# RGD-PIPELINE: ftp-file-extracts # MODULE: annotations-version-1.1.9 (Oct 10, 2019) # GENERATED-ON: 2023/05/20 # PURPOSE: annotations about active Bonobo objects extracted from RGD database # ONTOLOGY: RDO: RGD Disease Ontology # CONTACT: rgd.data@mcw.edu # FORMAT: tab delimited text # NOTES: multiple values in a single column are separated by '|' # #COLUMN INFORMATION: # #1 RGD_ID unique RGD_ID of the annotated object #2 OBJECT_SYMBOL official symbol of the annotated object #3 OBJECT_NAME official name of the annotated object #4 OBJECT_TYPE annotated object data type: one of ['gene','qtl','strain'] #5 TERM_ACC_ID ontology term accession id #6 TERM_NAME ontology term name #7 QUALIFIER optional qualifier #8 EVIDENCE evidence #9 WITH with info #10 ASPECT aspect #11 REFERENCES db references (Reference RGDID|PUBMED ID) #12 CREATED_DATE created date #13 ASSIGNED_BY assigned by #14 MESH_OMIM_ID MESH:xxx or OMIM:xxx id corresponding to RDO:xxx id found in TERM_ACC_ID column (RGD/CTD Disease Ontology annotations only) #15 CURATION_NOTES curation notes provided by RGD curators #16 ORIGINAL_REFERENCE original reference RGD_ID OBJECT_SYMBOL OBJECT_NAME OBJECT_TYPE TERM_ACC_ID TERM_NAME QUALIFIER EVIDENCE WITH ASPECT REFERENCES CREATED_DATE ASSIGNED_BY MESH_OMIM_ID CURATION_NOTES ORIGINAL_REFERENCE 11667972 CYLC2 cylicin 2 gene DOID:1059 intellectual disability ISO RGD:1344761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11667972 CYLC2 cylicin 2 gene DOID:630 genetic disease ISO RGD:1344761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11667981 LOC100967601 nuclear envelope pore membrane protein POM 121 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11667981 LOC100967601 nuclear envelope pore membrane protein POM 121 gene DOID:630 genetic disease ISO RGD:1605101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11667981 LOC100967601 nuclear envelope pore membrane protein POM 121 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11667981 LOC100967601 nuclear envelope pore membrane protein POM 121 gene DOID:9005747 Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability ISO RGD:1605101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability PMID:23332918 11667982 PDCL phosducin like gene DOID:630 genetic disease ISO RGD:735514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11667996 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:735346 D RGD:9068941 20220825 RGD protein:increased expression:tongue (human) PMID:26581505|REF_RGD_ID:11535375 11667996 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:735346 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 11667996 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:13139 crescentic glomerulonephritis ISO RGD:2945 D RGD:9068941 20210108 RGD PMID:18443593|REF_RGD_ID:2293336 11667996 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:1824 status epilepticus ISO RGD:735346 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7984056 11667996 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:2921 glomerulonephritis ISO RGD:735346 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18443593 11667996 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:4451 renal carcinoma ISO RGD:2945 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:9405228|REF_RGD_ID:2293758 11667996 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:5082 liver cirrhosis ISO RGD:735346 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17133482 11667996 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:630 genetic disease ISO RGD:735346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11667996 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:684 hepatocellular carcinoma ISO RGD:735346 D RGD:9068941 20220728 RGD associated with HBV;protein:increased expression:liver (human) PMID:15927205|REF_RGD_ID:153297768 11667996 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:9005172 Lung Neoplasms ISO RGD:735346 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 11667996 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735346 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17898221 11667996 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735346 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30515189 11667996 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:735346 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11668001 DAOA D-amino acid oxidase activator gene DOID:3312 bipolar disorder susceptibility ISO RGD:1349838 D RGD:9068941 20200806 RGD DNA:SNP,haplotype: : PMID:14966479|REF_RGD_ID:1358627 11668001 DAOA D-amino acid oxidase activator gene DOID:5419 schizophrenia ISO RGD:1349838 D RGD:7240710 20180130 OMIM 11668001 DAOA D-amino acid oxidase activator gene DOID:5419 schizophrenia susceptibility ISO RGD:1349838 D RGD:9068941 20200806 RGD DNA:SNPs,haplotype: : PMID:14966479|REF_RGD_ID:1358627 11668001 DAOA D-amino acid oxidase activator gene DOID:630 genetic disease ISO RGD:1349838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668001 DAOA D-amino acid oxidase activator gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1349838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11668008 XXYLT1 xyloside xylosyltransferase 1 gene DOID:0060224 atrial fibrillation ISO RGD:1345440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11668008 XXYLT1 xyloside xylosyltransferase 1 gene DOID:0080600 COVID-19 ISO RGD:1345440 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11668008 XXYLT1 xyloside xylosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1345440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668016 PIGM phosphatidylinositol glycan anchor biosynthesis class M gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1346161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11668016 PIGM phosphatidylinositol glycan anchor biosynthesis class M gene DOID:1540 parathyroid carcinoma ISO RGD:1346161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11668016 PIGM phosphatidylinositol glycan anchor biosynthesis class M gene DOID:630 genetic disease ISO RGD:1346161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11668016 PIGM phosphatidylinositol glycan anchor biosynthesis class M gene DOID:9003871 Venous Thrombosis ISO RGD:1346161 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16767100 11668016 PIGM phosphatidylinositol glycan anchor biosynthesis class M gene DOID:9006834 Glycosylphosphatidylinositol Deficiency ISO RGD:1346161 D RGD:7240710 20180130 OMIM 11668016 PIGM phosphatidylinositol glycan anchor biosynthesis class M gene DOID:9006834 Glycosylphosphatidylinositol Deficiency ISO RGD:1346161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 PMID:16767100|PMID:17442906|PMID:25293775|PMID:28492532|PMID:31445883 11668016 PIGM phosphatidylinositol glycan anchor biosynthesis class M gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11668021 ORC2 origin recognition complex subunit 2 gene DOID:630 genetic disease ISO RGD:1323514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668021 ORC2 origin recognition complex subunit 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1323514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 11668021 ORC2 origin recognition complex subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11668055 CEACAM5 CEA cell adhesion molecule 5 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1351932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11668055 CEACAM5 CEA cell adhesion molecule 5 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1351932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11668055 CEACAM5 CEA cell adhesion molecule 5 gene DOID:2340 craniosynostosis ISO RGD:1351932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11668055 CEACAM5 CEA cell adhesion molecule 5 gene DOID:5419 schizophrenia ISO RGD:1351932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11668055 CEACAM5 CEA cell adhesion molecule 5 gene DOID:630 genetic disease ISO RGD:1351932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668055 CEACAM5 CEA cell adhesion molecule 5 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1351932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11668055 CEACAM5 CEA cell adhesion molecule 5 gene DOID:9003281 Spontaneous Abortions ISO RGD:1351932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11668055 CEACAM5 CEA cell adhesion molecule 5 gene DOID:9269 maple syrup urine disease ISO RGD:1351932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11668080 ZNF107 zinc finger protein 107 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11668080 ZNF107 zinc finger protein 107 gene DOID:630 genetic disease ISO RGD:1343483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668088 CENPL centromere protein L gene DOID:1540 parathyroid carcinoma ISO RGD:1605310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11668088 CENPL centromere protein L gene DOID:3755 antithrombin III deficiency ISO RGD:1605310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 11668088 CENPL centromere protein L gene DOID:630 genetic disease ISO RGD:1605310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668088 CENPL centromere protein L gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1605310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 11668088 CENPL centromere protein L gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1605310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 11668088 CENPL centromere protein L gene DOID:9007747 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation ISO RGD:1605310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 11668088 CENPL centromere protein L gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11668101 ITFG1 integrin alpha FG-GAP repeat containing 1 gene DOID:0111041 glycogen storage disease IXb ISO RGD:735534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 11668101 ITFG1 integrin alpha FG-GAP repeat containing 1 gene DOID:630 genetic disease ISO RGD:735534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668123 C5H5orf24 chromosome 5 C5orf24 homolog gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605291 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11668123 C5H5orf24 chromosome 5 C5orf24 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11668123 C5H5orf24 chromosome 5 C5orf24 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605291 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11668136 MRPS12 mitochondrial ribosomal protein S12 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1314714 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11668136 MRPS12 mitochondrial ribosomal protein S12 gene DOID:630 genetic disease ISO RGD:1314714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668136 MRPS12 mitochondrial ribosomal protein S12 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1314714 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11668146 DNAJB4 DnaJ heat shock protein family (Hsp40) member B4 gene DOID:11720 distal myopathy ISO RGD:1314093 D RGD:9068941 20230330 MouseDO 11668146 DNAJB4 DnaJ heat shock protein family (Hsp40) member B4 gene DOID:630 genetic disease ISO RGD:1314092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668146 DNAJB4 DnaJ heat shock protein family (Hsp40) member B4 gene DOID:9001370 Congenital Myopathy 21 with Early Respiratory Failure ISO RGD:1314092 D RGD:7240710 20230505 OMIM 11668146 DNAJB4 DnaJ heat shock protein family (Hsp40) member B4 gene DOID:9001370 Congenital Myopathy 21 with Early Respiratory Failure ISO RGD:1314092 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital myopathy 21 with early respiratory failure PMID:36264506|PMID:36344539 11668157 HEPACAM2 HEPACAM family member 2 gene DOID:10283 prostate cancer ISO RGD:1602173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11668157 HEPACAM2 HEPACAM family member 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11668157 HEPACAM2 HEPACAM family member 2 gene DOID:630 genetic disease ISO RGD:1602173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668175 SKP1 S-phase kinase associated protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347276 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11668175 SKP1 S-phase kinase associated protein 1 gene DOID:630 genetic disease ISO RGD:1347276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668175 SKP1 S-phase kinase associated protein 1 gene DOID:9003318 Keratoconus 1 ISO RGD:1347276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 1 11668175 SKP1 S-phase kinase associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11668175 SKP1 S-phase kinase associated protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347276 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11668185 TNFAIP8 TNF alpha induced protein 8 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314220 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11668185 TNFAIP8 TNF alpha induced protein 8 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1314220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21969086 11668185 TNFAIP8 TNF alpha induced protein 8 gene DOID:630 genetic disease ISO RGD:1314220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668185 TNFAIP8 TNF alpha induced protein 8 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1314220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11668185 TNFAIP8 TNF alpha induced protein 8 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1314220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21969086 11668185 TNFAIP8 TNF alpha induced protein 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11668185 TNFAIP8 TNF alpha induced protein 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11668185 TNFAIP8 TNF alpha induced protein 8 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314220 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11668199 SEMA4C semaphorin 4C gene DOID:0080600 COVID-19 ISO RGD:1354487 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11668199 SEMA4C semaphorin 4C gene DOID:1059 intellectual disability ISO RGD:1354487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11668199 SEMA4C semaphorin 4C gene DOID:5419 schizophrenia ISO RGD:1354487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11668199 SEMA4C semaphorin 4C gene DOID:630 genetic disease ISO RGD:1354487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668218 ZNF584 zinc finger protein 584 gene DOID:630 genetic disease ISO RGD:1348200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668232 DIPK1A divergent protein kinase domain 1A gene DOID:0111879 Diamond-Blackfan anemia 6 ISO RGD:1603475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 PMID:19061985|PMID:19191325|PMID:19773262|PMID:20054847|PMID:20960466|PMID:23718193|PMID:23744582|PMID:25741868|PMID:25946618|PMID:28492532|PMID:28694211|PMID:28991257|PMID:30183354|PMID:30503522 11668232 DIPK1A divergent protein kinase domain 1A gene DOID:0111895 Diamond-Blackfan anemia 1 ISO RGD:1603475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 PMID:19061985|PMID:19191325|PMID:19773262|PMID:20054847|PMID:20960466|PMID:23718193|PMID:25741868|PMID:28492532 11668232 DIPK1A divergent protein kinase domain 1A gene DOID:0112131 severe congenital neutropenia 2 ISO RGD:1603475 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant PMID:28492532 11668232 DIPK1A divergent protein kinase domain 1A gene DOID:12449 aplastic anemia ISO RGD:1603475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aplastic anemia PMID:25741868 11668232 DIPK1A divergent protein kinase domain 1A gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603475 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:16199547|PMID:19061985|PMID:19191325|PMID:19773262|PMID:20054847|PMID:20960466|PMID:22689679|PMID:23718193|PMID:23744582|PMID:25741868|PMID:25946618|PMID:27432187|PMID:28492532|PMID:28694211|PMID:28991257|PMID:30183354|PMID:30503522 11668232 DIPK1A divergent protein kinase domain 1A gene DOID:630 genetic disease ISO RGD:1603475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668240 LSR lipolysis stimulated lipoprotein receptor gene DOID:0110222 Brugada syndrome 5 ISO RGD:736744 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11668240 LSR lipolysis stimulated lipoprotein receptor gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:736744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11668240 LSR lipolysis stimulated lipoprotein receptor gene DOID:305 carcinoma ISO RGD:736744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 11668240 LSR lipolysis stimulated lipoprotein receptor gene DOID:543 dystonia ISO RGD:736744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11668240 LSR lipolysis stimulated lipoprotein receptor gene DOID:630 genetic disease ISO RGD:736744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11668240 LSR lipolysis stimulated lipoprotein receptor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 11668240 LSR lipolysis stimulated lipoprotein receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 11668260 KHDRBS3 KH RNA binding domain containing, signal transduction associated 3 gene DOID:630 genetic disease ISO RGD:1354239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668286 FAM234A family with sequence similarity 234 member A gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1345598 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11668286 FAM234A family with sequence similarity 234 member A gene DOID:1826 epilepsy ISO RGD:1345598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 11668286 FAM234A family with sequence similarity 234 member A gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1345598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11668286 FAM234A family with sequence similarity 234 member A gene DOID:630 genetic disease ISO RGD:1345598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668286 FAM234A family with sequence similarity 234 member A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:0050465 Muir-Torre syndrome ISO RGD:732571 D RGD:9068941 20220825 MouseDO OMIM:158320 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:10283 prostate cancer ISO RGD:1344220 D RGD:9068941 20200609 RGD DNA:SNP:intron:increased risk in carriers of minor allele of SNP rs760317 PMID:15705877|REF_RGD_ID:2289878 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:10283 prostate cancer ISO RGD:1344220 D RGD:9068941 20200609 RGD DNA:SNP:intron:reduced risk in carriers of minor allele of SNP rs760317 PMID:17548701|REF_RGD_ID:2289869 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:10283 prostate cancer ISO RGD:1344220 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter:methylation percentage 15% in tumors vs no methylation in nonmalignant prostate PMID:11839671|REF_RGD_ID:2289896 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:11054 urinary bladder cancer ISO RGD:1344220 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter:hypermethylation found in 16/98 (16%) of tumors, associated with poor survival PMID:11751381|REF_RGD_ID:2289897 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:11054 urinary bladder cancer ISO RGD:1344220 D RGD:9068941 20200609 RGD associated with Schistosomiasis;DNA:hypermethylation:urinary bladder PMID:15154012|REF_RGD_ID:2301233 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:11054 urinary bladder cancer ISO RGD:732571 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:15591090|REF_RGD_ID:2301232 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:11372 megacolon ISO RGD:1344220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:12849 autistic disorder ISO RGD:1344220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:13938 amenorrhea ISO RGD:1344220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:1749 squamous cell carcinoma ISO RGD:1344220 D RGD:9068941 20200609 RGD cervical squamous cell carcinoma; DNA:hypermethylation,loss of heterozygosity:promoter,locus:hypermethylation in 24%, LOH in 10% of tumors PMID:17467893|REF_RGD_ID:2289871 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:2999 granulosa cell tumor ISO RGD:1344220 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter, ovary PMID:15574200|REF_RGD_ID:2298508 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:3008 invasive ductal carcinoma ISO RGD:1344220 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity,hypermethylation:breast:LOH in 8/40 tumors (20%), hypermethylation in 22/46 tumors (48%), significant positive association found (p=0.04) PMID:12231533|REF_RGD_ID:2289894 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:303 substance-related disorder ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:305 carcinoma ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16061637 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11788890 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1344220 D RGD:9068941 20200609 RGD PMID:9850082|REF_RGD_ID:13792770 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1344220 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:intron: PMID:9635574|REF_RGD_ID:13792815 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:4440 seminoma ISO RGD:1344220 D RGD:9068941 20200609 RGD protein:decreased expression::no expression observed in less mature seminomatous neoplastic tissues; re-expression seen in mature teratomatous tissues PMID:12379753|REF_RGD_ID:2289879 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:4450 renal cell carcinoma ISO RGD:1344220 D RGD:9068941 20200609 RGD DNA:translocation::t(3;8)(p14;q24.1) results in disruption of FHIT and TRC8/RNF139 genes PMID:17539022|REF_RGD_ID:2289870 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:4450 renal cell carcinoma ISO RGD:1344220 D RGD:9068941 20200609 RGD protein:decreased expression::reduced or negative expression in 78% of clear cell RCCs PMID:10530564|REF_RGD_ID:2289903 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:5419 schizophrenia ISO RGD:1344220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1344220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:28580594 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:630 genetic disease ISO RGD:1344220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:670 amphetamine abuse ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:684 hepatocellular carcinoma ISO RGD:620448 D RGD:9068941 20200609 RGD PMID:12112319|REF_RGD_ID:632723 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9000217 Stomach Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12958204 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 RGD protein:decreased expression:testis PMID:14670177|REF_RGD_ID:2301235 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:732571 D RGD:9068941 20230504 RGD PMID:30107138|REF_RGD_ID:329349307 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17548701 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 RGD mRNA,DNA:alternative form,loss of heterozygosity::abnormal transcript in 2/54 cases (4%), LOH in 8/54 cases (15%) PMID:9569038|REF_RGD_ID:2289905 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 RGD associated with smoking; DNA:decreased expression,deletions,gene instability::frequency of genomic alterations significantly higher for smokers than nonsmokers (P<0.02) PMID:16115913|REF_RGD_ID:2289874 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 RGD cervical squamous cell carcinoma; DNA:hypermethylation,loss of heterozygosity:promoter,locus:hypermethylation in 24%, LOH in 10% of tumors PMID:17467893|REF_RGD_ID:2289871 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9003373 Uterine Cervical Neoplasms no_association ISO RGD:1344220 D RGD:9068941 20200609 RGD mRNA:alternative form::all tumors examined had full-length transcripts despite LOH at 3p14 in 39%, frequency of minor transcripts the same in tumors and normal tissues PMID:9462708|REF_RGD_ID:2289906 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9003566 Mesothelioma ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14569398|PMID:18038314 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9004643 Urologic Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23618899 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9005172 Lung Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10959838|PMID:16061637 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9005804 Vulvar Neoplasms disease_progression ISO RGD:1344220 D RGD:9068941 20200609 RGD protein:decreased expression:vulva, squamous epithelial cell PMID:16608079|REF_RGD_ID:2301231 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9007188 Liver Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12112319 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9007715 Endometrial Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium:loss of expression in 41/111 (37%) of tumors, significantly associated with poor survival and/or poor prognostic indicators PMID:10873085|REF_RGD_ID:2289899 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9008939 Breast Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 RGD lobular breast cancer; DNA:loss of heterozygosity::LOH within the FHIT gene in 16% of cases, significant association between LOH and reduced or negative expression PMID:10930803|REF_RGD_ID:2289898 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9008939 Breast Neoplasms severity ISO RGD:1344220 D RGD:9068941 20200609 RGD protein:decreased expression:breast:frequency increases from 0% in nonproliferative benign breast disease to 41% in invasive carcinoma PMID:17164758|REF_RGD_ID:2289872 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:0050120 hemophagocytic lymphohistiocytosis ISO RGD:734036 D RGD:9068941 20220825 MouseDO 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:734035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy PMID:26392352|PMID:28492532 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:0050902 medulloblastoma ISO RGD:734035 D RGD:7240710 20211020 OMIM 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:0050902 medulloblastoma ISO RGD:734035 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:11179008|PMID:11179021|PMID:12116234|PMID:16199547|PMID:18303054|PMID:22975760|PMID:24173031|PMID:25741868|PMID:26392352|PMID:28492532|PMID:29289840|PMID:32296180 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:0050902 medulloblastoma ISO RGD:734035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:11179008|PMID:11179021|PMID:12116234|PMID:16199547|PMID:17576681|PMID:18303054|PMID:22975760|PMID:24173031|PMID:25741868|PMID:26392352|PMID:28492532|PMID:29289840|PMID:32296180|PMID:9536098 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:0060249 scoliosis ISO RGD:734035 D RGD:9068941 20200609 RGD PMID:11097445|REF_RGD_ID:5129159 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:0080435 developmental and epileptic encephalopathy 37 ISO RGD:734035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 PMID:28492532 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:734035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10090896|PMID:11179008|PMID:11179021|PMID:12116234|PMID:12687659|PMID:16964593|PMID:17206408|PMID:18091349|PMID:18197058|PMID:20301359|PMID:22190446|PMID:22850346|PMID:22975760|PMID:23515154|PMID:24033266|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29289840|PMID:29290691|PMID:9536098 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:734035 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10090896|PMID:11179008|PMID:11179021|PMID:12116234|PMID:12687659|PMID:16964593|PMID:17206408|PMID:17576681|PMID:18091349|PMID:18197058|PMID:20301359|PMID:22190446|PMID:22850346|PMID:22975760|PMID:23515154|PMID:24033266|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29289840|PMID:29290691|PMID:29762696|PMID:9536098 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:11589 Riley-Day syndrome ISO RGD:734035 D RGD:7240710 20180130 OMIM 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:11589 Riley-Day syndrome ISO RGD:734035 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial dysautonomia PMID:10090896|PMID:11179008|PMID:11179021|PMID:12116234|PMID:12687659|PMID:16199547|PMID:16964593|PMID:17206408|PMID:17576681|PMID:18091349|PMID:18197058|PMID:18303054|PMID:20301359|PMID:22190446|PMID:22850346|PMID:22975760|PMID:23515154|PMID:24033266|PMID:24173031|PMID:24995671|PMID:25741868|PMID:26264438|PMID:26392352|PMID:27065010|PMID:27104957|PMID:27582484|PMID:28492532|PMID:29289840|PMID:29290691|PMID:29762696|PMID:32296180|PMID:9536098 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:1926 Gaucher's disease ISO RGD:734035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gaucher disease PMID:28492532 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:2841 asthma ISO RGD:734035 D RGD:9068941 20200609 RGD PMID:11281413|REF_RGD_ID:5129157 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:2841 asthma no_association ISO RGD:734035 D RGD:9068941 20200609 RGD PMID:12774215|REF_RGD_ID:5129158 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:630 genetic disease ISO RGD:734035 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11179008|PMID:11179021|PMID:12116234|PMID:16964593|PMID:17206408|PMID:17576681|PMID:18303054|PMID:20301359|PMID:22190446|PMID:22850346|PMID:23515154|PMID:24033266|PMID:24173031|PMID:24995671|PMID:25741868|PMID:26264438|PMID:26392352|PMID:27065010|PMID:27582484|PMID:28492532|PMID:29762696|PMID:9536098 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:9003358 Kyphosis ISO RGD:734035 D RGD:9068941 20200609 RGD PMID:11097445|REF_RGD_ID:5129159 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:734035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:9008939 Breast Neoplasms ISO RGD:734035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 11668388 MTNR1A melatonin receptor 1A gene DOID:0060041 autism spectrum disorder ISO RGD:1352571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20657642 11668388 MTNR1A melatonin receptor 1A gene DOID:12849 autistic disorder ISO RGD:1352571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11668388 MTNR1A melatonin receptor 1A gene DOID:12858 Huntington's disease ISO RGD:1352571 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:21994366|REF_RGD_ID:9686058 11668388 MTNR1A melatonin receptor 1A gene DOID:12858 Huntington's disease treatment ISO RGD:734169 D RGD:9068941 20200609 RGD PMID:21994366|REF_RGD_ID:9686058 11668388 MTNR1A melatonin receptor 1A gene DOID:2229 factor XI deficiency ISO RGD:1352571 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:34355501 11668388 MTNR1A melatonin receptor 1A gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:734169 D RGD:9068941 20200609 RGD protein:decreased expression:spinal chord PMID:23537713|REF_RGD_ID:13524569 11668388 MTNR1A melatonin receptor 1A gene DOID:5679 retinal disease ISO RGD:1352571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21915336 11668388 MTNR1A melatonin receptor 1A gene DOID:630 genetic disease ISO RGD:1352571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668388 MTNR1A melatonin receptor 1A gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1352571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 11668388 MTNR1A melatonin receptor 1A gene DOID:9352 type 2 diabetes mellitus ISO RGD:620797 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:16441550|REF_RGD_ID:2301037 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:736969 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:10400998|PMID:10428953|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12566567|PMID:15840476|PMID:16818210|PMID:19008479|PMID:19340287|PMID:19521339|PMID:19716085|PMID:22166941|PMID:22581653|PMID:23124029|PMID:23510998|PMID:23631430|PMID:24033266|PMID:24400172|PMID:24561134|PMID:24606995|PMID:25637381|PMID:25741868|PMID:26187847|PMID:28176637|PMID:28492532|PMID:30847666|PMID:31447099|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0050451 Brugada syndrome ISO RGD:736969 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:10400998|PMID:10428953|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12566567|PMID:15840476|PMID:16818210|PMID:19008479|PMID:19340287|PMID:19521339|PMID:19716085|PMID:22166941|PMID:22581653|PMID:23124029|PMID:23510998|PMID:23631430|PMID:24033266|PMID:24400172|PMID:24561134|PMID:24606995|PMID:25637381|PMID:25741868|PMID:26187847|PMID:28176637|PMID:28492532|PMID:30847666|PMID:31447099|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0050700 cardiomyopathy ISO RGD:736969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10807545|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:16132053|PMID:16266404|PMID:16487223|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:18426444|PMID:19305408|PMID:19695459|PMID:19907016|PMID:20823649|PMID:21244686|PMID:21712262|PMID:22100668|PMID:22378279|PMID:22581653|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:25737393|PMID:25741868|PMID:26132555|PMID:26743238|PMID:28003625|PMID:28492532|PMID:29625280|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:8899564|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0050700 cardiomyopathy ISO RGD:736969 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10807545|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:16132053|PMID:16266404|PMID:16487223|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:18426444|PMID:19305408|PMID:19695459|PMID:19907016|PMID:20823649|PMID:21244686|PMID:21712262|PMID:22100668|PMID:22378279|PMID:22581653|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:25737393|PMID:25741868|PMID:26132555|PMID:26743238|PMID:28003625|PMID:28492532|PMID:29625280|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:32429735|PMID:8899564|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0050700 cardiomyopathy ISO RGD:736969 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:10807545|PMID:10973849|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:16132053|PMID:16266404|PMID:16487223|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:18426444|PMID:19305408|PMID:19695459|PMID:19907016|PMID:20823649|PMID:21244686|PMID:21712262|PMID:21907427|PMID:22100668|PMID:22378279|PMID:22581653|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24710009|PMID:25737393|PMID:25741868|PMID:26132555|PMID:26743238|PMID:28003625|PMID:28492532|PMID:28807990|PMID:29625280|PMID:30245029|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:32429735|PMID:8899564|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0050700 cardiomyopathy ISO RGD:736969 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:10807545|PMID:10973849|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:16132053|PMID:16266404|PMID:16487223|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:18426444|PMID:19305408|PMID:19695459|PMID:19907016|PMID:20823649|PMID:21244686|PMID:21712262|PMID:21907427|PMID:22100668|PMID:22378279|PMID:22581653|PMID:23098067|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24710009|PMID:25737393|PMID:25741868|PMID:26132555|PMID:26743238|PMID:28003625|PMID:28492532|PMID:28807990|PMID:29625280|PMID:30245029|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31941373|PMID:32429735|PMID:8899564|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:736969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0060224 atrial fibrillation ISO RGD:736969 D RGD:9068941 20200609 RGD PMID:12228786|REF_RGD_ID:1580498 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:736969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:736969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0080600 COVID-19 ISO RGD:736969 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:736969 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:736969 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28166811|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:736969 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28166811|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:32429735|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:736969 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28166811|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:32429735|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:736969 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:32429735|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110647 long QT syndrome 5 ISO RGD:736969 D RGD:7240710 20180130 OMIM 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110647 long QT syndrome 5 ISO RGD:736969 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long QT syndrome 5 | ClinVar Annotator: match by term: Long QT syndrome 5, acquired, susceptibility to PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:22934933|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28176637|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31043699|PMID:31308327|PMID:31337358|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:32429735|PMID:33693037|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110648 long QT syndrome 6 ISO RGD:736969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 6 PMID:21626672|PMID:25640679|PMID:28492532 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24217263|PMID:28492532 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:736969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532|PMID:30461122 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:1588 thrombocytopenia ISO RGD:736969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2842 Jervell-Lange Nielsen syndrome ISO RGD:736969 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome PMID:10400998|PMID:10428953|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12566567|PMID:15840476|PMID:16818210|PMID:19008479|PMID:19340287|PMID:19521339|PMID:19716085|PMID:22166941|PMID:22581653|PMID:23124029|PMID:23510998|PMID:23631430|PMID:24033266|PMID:24400172|PMID:24561134|PMID:24606995|PMID:25637381|PMID:25741868|PMID:26187847|PMID:28176637|PMID:28492532|PMID:30847666|PMID:31447099|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2843 long QT syndrome ISO RGD:736969 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14499862|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19322600|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21152909|PMID:21244686|PMID:21576493|PMID:21712262|PMID:21854832|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22471742|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23382499|PMID:23396983|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26467025|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:27871843|PMID:28003625|PMID:28018021|PMID:28166811|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31337358|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32164657|PMID:32344329|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2843 long QT syndrome ISO RGD:736969 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14499862|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19322600|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21152909|PMID:21244686|PMID:21576493|PMID:21712262|PMID:21854832|PMID:21907427|PMID:21967835|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22471742|PMID:22581653|PMID:22934933|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23382499|PMID:23396983|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24314077|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25351510|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26467025|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:27871843|PMID:28003625|PMID:28018021|PMID:28166811|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28616568|PMID:28767663|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30245029|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:30975432|PMID:31043699|PMID:31308327|PMID:31337358|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32164657|PMID:32344329|PMID:32429735|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2843 long QT syndrome ISO RGD:736969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14499862|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17130521|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19322600|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21152909|PMID:21244686|PMID:21576493|PMID:21712262|PMID:21854832|PMID:21907427|PMID:21967835|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22471742|PMID:22581653|PMID:22934933|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23382499|PMID:23396983|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24217263|PMID:24314077|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25351510|PMID:25535795|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26467025|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27076034|PMID:27784853|PMID:27871843|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28616568|PMID:28767663|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30079003|PMID:30123799|PMID:30245029|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:30975432|PMID:31043699|PMID:31308327|PMID:31337358|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32145446|PMID:32164657|PMID:32344329|PMID:32429735|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2843 long QT syndrome susceptibility ISO RGD:736969 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.D85N(human) PMID:19695459|REF_RGD_ID:11072353 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:4440 seminoma ISO RGD:736969 D RGD:9068941 20200609 RGD PMID:15389592|REF_RGD_ID:1580497 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:6000 congestive heart failure ISO RGD:2956 D RGD:9068941 20200609 RGD associated with Myocardial Infarction (RDO:0006167); mRNA:increased expression:heart left ventricle, septum PMID:16497176|REF_RGD_ID:1642301 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:6000 congestive heart failure ISO RGD:736969 D RGD:9068941 20200609 RGD mRNA:increased expression:endocardium of right ventricle: PMID:17384445|REF_RGD_ID:12910696 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:630 genetic disease ISO RGD:736969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9000059 Long QT Syndrome 2/5 ISO RGD:736969 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2/5, digenic PMID:10807545|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:16132053|PMID:16266404|PMID:16487223|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:18426444|PMID:19305408|PMID:19695459|PMID:20823649|PMID:21244686|PMID:21712262|PMID:22100668|PMID:22378279|PMID:22581653|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:25737393|PMID:25741868|PMID:26132555|PMID:26743238|PMID:28003625|PMID:28492532|PMID:29625280|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:32429735|PMID:8899564|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:736969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:736969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noise induced hearing loss PMID:12402336|PMID:14661677|PMID:14760488|PMID:15599693|PMID:16487223|PMID:17161064|PMID:17210839|PMID:17597962|PMID:18426444|PMID:22581653|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7828904|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:736969 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:10400998|PMID:10428953|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12566567|PMID:15840476|PMID:16818210|PMID:19008479|PMID:19340287|PMID:19521339|PMID:19716085|PMID:22166941|PMID:22581653|PMID:23124029|PMID:23510998|PMID:23631430|PMID:24033266|PMID:24400172|PMID:24561134|PMID:24606995|PMID:25637381|PMID:25741868|PMID:26187847|PMID:28176637|PMID:28492532|PMID:30847666|PMID:31447099|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9004538 Hearing Loss ISO RGD:736969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary hearing loss and deafness 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:736969 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:32429735|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9005444 Torsades de Pointes ISO RGD:736969 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.D85N (rs1805128)(human) PMID:22100668|REF_RGD_ID:11066279 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9007 sudden infant death syndrome ISO RGD:736969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868|PMID:28492532|PMID:30461122 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9007577 Jervell And Lange-Nielsen Syndrome 2 ISO RGD:736969 D RGD:7240710 20180130 OMIM 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9007577 Jervell And Lange-Nielsen Syndrome 2 ISO RGD:736969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 2 PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17130521|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22471742|PMID:22581653|PMID:22934933|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29032884|PMID:29625280|PMID:29672598|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31043699|PMID:31308327|PMID:31337358|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32164657|PMID:32344329|PMID:32429735|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9007820 Sudden Death ISO RGD:736969 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:10400998|PMID:10428953|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12566567|PMID:15840476|PMID:16818210|PMID:19008479|PMID:19340287|PMID:19521339|PMID:19716085|PMID:22166941|PMID:22581653|PMID:23124029|PMID:23510998|PMID:23631430|PMID:24033266|PMID:24400172|PMID:24561134|PMID:24606995|PMID:25637381|PMID:25741868|PMID:26187847|PMID:28176637|PMID:28492532|PMID:30847666|PMID:31447099|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 11668412 RCC1 regulator of chromosome condensation 1 gene DOID:630 genetic disease ISO RGD:1343250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668443 CLDN16 claudin 16 gene DOID:0060879 primary hypomagnesemia ISO RGD:1351544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hypomagnesemia PMID:10390358|PMID:10878661|PMID:11518780|PMID:15856319|PMID:16234325|PMID:16501001|PMID:16705067|PMID:18003771|PMID:20607983|PMID:24033266|PMID:25477417|PMID:25741868|PMID:25852890|PMID:26426912|PMID:28492532|PMID:28893421|PMID:32860008|PMID:33532864|PMID:668721 11668443 CLDN16 claudin 16 gene DOID:0060880 renal hypomagnesemia 3 ISO RGD:1351544 D RGD:7240710 20180228 OMIM 11668443 CLDN16 claudin 16 gene DOID:0060881 renal hypomagnesemia 5 with ocular involvement ISO RGD:1351544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement 11668443 CLDN16 claudin 16 gene DOID:10763 hypertension ISO RGD:620322 D RGD:9068941 20200609 RGD Protein:decreased serine phosphorylation:kidney PMID:16959063|REF_RGD_ID:1599616 11668443 CLDN16 claudin 16 gene DOID:12679 nephrocalcinosis ISO RGD:1351544 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:10390358|PMID:25741868|PMID:28893421 11668443 CLDN16 claudin 16 gene DOID:447 renal tubular transport disease susceptibility ISO RGD:1351544 D RGD:9068941 20200609 RGD DNA:mutation: ; PRIMARY HYPOMAGNESEMIA, OMIM#248250 PMID:10390358|REF_RGD_ID:1599615 11668443 CLDN16 claudin 16 gene DOID:5419 schizophrenia ISO RGD:1351544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11668443 CLDN16 claudin 16 gene DOID:630 genetic disease ISO RGD:1351544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33532864 11668443 CLDN16 claudin 16 gene DOID:9001738 Hypercalciuria ISO RGD:1351544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercalciuria, childhood, self-limiting PMID:14628289 11668443 CLDN16 claudin 16 gene DOID:9007711 Nisch syndrome ISO RGD:1351544 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome PMID:12164927|PMID:15521008|PMID:16619213|PMID:25741868|PMID:28492532 11668456 GIMD1 GIMAP family P-loop NTPase domain containing 1 gene DOID:630 genetic disease ISO RGD:6770684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668466 KRT26 keratin 26 gene DOID:630 genetic disease ISO RGD:1343053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668478 ATP5MK ATP synthase membrane subunit k gene DOID:0111749 mitochondrial complex V (ATP synthase) deficiency nuclear type 6 ISO RGD:1347198 D RGD:7240710 20191211 OMIM 11668478 ATP5MK ATP synthase membrane subunit k gene DOID:0111749 mitochondrial complex V (ATP synthase) deficiency nuclear type 6 ISO RGD:1347198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6 PMID:25741868|PMID:29917077 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:0080202 adenoid cystic carcinoma treatment ISO RGD:1354062 D RGD:9068941 20211022 RGD PMID:23027130|REF_RGD_ID:150519921 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:10534 stomach cancer ameliorates ISO RGD:1354062 D RGD:9068941 20211022 RGD PMID:30452981|REF_RGD_ID:150519920 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:1824 status epilepticus ISO RGD:1354062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8635431 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:2717 Bloom syndrome ISO RGD:1354062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:289 endometriosis ISO RGD:1354062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:3008 invasive ductal carcinoma ISO RGD:1354062 D RGD:9068941 20211022 RGD mRNA,protein:increased expression:breast: PMID:20802235|REF_RGD_ID:150520014 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:3070 high grade glioma ISO RGD:1354062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24705251 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1354062 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:10209957|REF_RGD_ID:2325663 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1354062 D RGD:9068941 20200609 RGD PMID:11295066|REF_RGD_ID:2325660 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:5426 primary ovarian insufficiency ISO RGD:1354062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:630 genetic disease ISO RGD:1354062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3214 D RGD:9068941 20200609 RGD mRNA:decreased expression:spinal cord PMID:18585435|REF_RGD_ID:2308892 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:9000403 Animal Mammary Neoplasms ameliorates ISO RGD:737043 D RGD:9068941 20211022 RGD PMID:20802235|REF_RGD_ID:150520014 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3214 D RGD:9068941 20200609 RGD mRNA:decreased expression:dorsal root ganglion PMID:9541170|REF_RGD_ID:2325654 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:9009121 lung metastasis ameliorates ISO RGD:737043 D RGD:9068941 20211022 RGD associated with mammary carcinoma PMID:20802235|REF_RGD_ID:150520014 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1354062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29119387 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:9256 colorectal cancer ISO RGD:1354062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1354062 D RGD:9068941 20211022 RGD PMID:33593392|REF_RGD_ID:150520009 11668525 FBXO33 F-box protein 33 gene DOID:630 genetic disease ISO RGD:1316797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668525 FBXO33 F-box protein 33 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1316797 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11668577 UBE2C ubiquitin conjugating enzyme E2 C gene DOID:0080600 COVID-19 ISO RGD:1313378 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11668577 UBE2C ubiquitin conjugating enzyme E2 C gene DOID:2234 focal epilepsy ISO RGD:1313378 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11668577 UBE2C ubiquitin conjugating enzyme E2 C gene DOID:630 genetic disease ISO RGD:1313378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668577 UBE2C ubiquitin conjugating enzyme E2 C gene DOID:684 hepatocellular carcinoma ISO RGD:1313378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11668577 UBE2C ubiquitin conjugating enzyme E2 C gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1313378 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11668577 UBE2C ubiquitin conjugating enzyme E2 C gene DOID:9004814 Chromosome Aberrations ISO RGD:1313378 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27129209 11668577 UBE2C ubiquitin conjugating enzyme E2 C gene DOID:9008939 Breast Neoplasms ISO RGD:1313378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 11668587 CDC34 cell division cycle 34, ubiqiutin conjugating enzyme gene DOID:630 genetic disease ISO RGD:1313428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668596 TYMS thymidylate synthetase gene DOID:0050861 colorectal adenocarcinoma ISO RGD:3921 D RGD:9068941 20200609 RGD protein:increased activity:colon (rat) PMID:10226549|REF_RGD_ID:2317418 11668596 TYMS thymidylate synthetase gene DOID:0050873 follicular lymphoma ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16410450 11668596 TYMS thymidylate synthetase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16365025 11668596 TYMS thymidylate synthetase gene DOID:0080600 COVID-19 ISO RGD:732334 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11668596 TYMS thymidylate synthetase gene DOID:11054 urinary bladder cancer ISO RGD:3921 D RGD:9068941 20200609 RGD PMID:18463958|REF_RGD_ID:2317413 11668596 TYMS thymidylate synthetase gene DOID:12849 autistic disorder ISO RGD:732334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11668596 TYMS thymidylate synthetase gene DOID:1520 colon carcinoma ISO RGD:732334 D RGD:9068941 20200609 RGD human tumor in mouse model PMID:17848948|REF_RGD_ID:5133430 11668596 TYMS thymidylate synthetase gene DOID:169 neuroendocrine tumor ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18281538 11668596 TYMS thymidylate synthetase gene DOID:1749 squamous cell carcinoma ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16280240 11668596 TYMS thymidylate synthetase gene DOID:1793 pancreatic cancer ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19020767 11668596 TYMS thymidylate synthetase gene DOID:1984 rectal benign neoplasm ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16931962 11668596 TYMS thymidylate synthetase gene DOID:2355 anemia ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19648163 11668596 TYMS thymidylate synthetase gene DOID:2729 dyskeratosis congenita ISO RGD:732334 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:25741868|PMID:35931051 11668596 TYMS thymidylate synthetase gene DOID:3910 lung adenocarcinoma ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11668596 TYMS thymidylate synthetase gene DOID:630 genetic disease ISO RGD:732334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668596 TYMS thymidylate synthetase gene DOID:674 cleft palate ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 11668596 TYMS thymidylate synthetase gene DOID:684 hepatocellular carcinoma ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18019677|PMID:18230555 11668596 TYMS thymidylate synthetase gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732334 D RGD:9068941 20200609 RGD DNA:deletion:3'UTR:1494del6(human) PMID:17659576|REF_RGD_ID:14696708 11668596 TYMS thymidylate synthetase gene DOID:7148 rheumatoid arthritis treatment ISO RGD:732334 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:22763757|REF_RGD_ID:11075093 11668596 TYMS thymidylate synthetase gene DOID:863 nervous system disease ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 11668596 TYMS thymidylate synthetase gene DOID:9000217 Stomach Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15837757|PMID:18505590|PMID:18652704|PMID:19020767 11668596 TYMS thymidylate synthetase gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:732334 D RGD:9068941 20200609 RGD associated with Gastrointestinal Neoplasms;DNA:SNPs: : PMID:25677447|REF_RGD_ID:11081002 11668596 TYMS thymidylate synthetase gene DOID:9002304 Prostatic Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15999119 11668596 TYMS thymidylate synthetase gene DOID:9002720 Splenomegaly ISO RGD:3921 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:spleen (rat) PMID:11554613|REF_RGD_ID:5133431 11668596 TYMS thymidylate synthetase gene DOID:9002762 Ovarian Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21795601 11668596 TYMS thymidylate synthetase gene DOID:9002928 Colonic Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15355913|PMID:16284371|PMID:16609021|PMID:18192902|PMID:18652704|PMID:19105824 11668596 TYMS thymidylate synthetase gene DOID:9004351 Digestive System Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18281538 11668596 TYMS thymidylate synthetase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11668596 TYMS thymidylate synthetase gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18192902 11668596 TYMS thymidylate synthetase gene DOID:9005172 Lung Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18281538|PMID:19020767 11668596 TYMS thymidylate synthetase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3921 D RGD:9068941 20200609 RGD PMID:9635926|REF_RGD_ID:2315839 11668596 TYMS thymidylate synthetase gene DOID:9005873 Tongue Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16280240 11668596 TYMS thymidylate synthetase gene DOID:9006169 Head and Neck Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19020767 11668596 TYMS thymidylate synthetase gene DOID:9006205 Animal Disease Models ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11668596 TYMS thymidylate synthetase gene DOID:9006803 DYSKERATOSIS CONGENITA, DIGENIC ISO RGD:732334 D RGD:7240710 20221207 OMIM 11668596 TYMS thymidylate synthetase gene DOID:9006803 DYSKERATOSIS CONGENITA, DIGENIC ISO RGD:732334 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, digenic PMID:25741868|PMID:35931051 11668596 TYMS thymidylate synthetase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19648163|PMID:21064136|PMID:25007187|PMID:26077125 11668596 TYMS thymidylate synthetase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:732334 D RGD:9068941 20220616 RGD DNA:SNP:cds:rs2853741 (human) PMID:28347776|REF_RGD_ID:152995291 11668596 TYMS thymidylate synthetase gene DOID:9008443 Colorectal Neoplasms ISO RGD:3921 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:adenocarcinoma (rat) PMID:10523711|REF_RGD_ID:5133433 11668596 TYMS thymidylate synthetase gene DOID:9008443 Colorectal Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15222106|PMID:15386371|PMID:15500737|PMID:16141798|PMID:16943523|PMID:17047489|PMID:17943475|PMID:18607850|PMID:18676755|PMID:19020767|PMID:25944804 11668596 TYMS thymidylate synthetase gene DOID:9008939 Breast Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16723031|PMID:19020767|PMID:21501481 11668596 TYMS thymidylate synthetase gene DOID:9008972 Hyperammonemia ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20714149 11668596 TYMS thymidylate synthetase gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:732334 D RGD:9068941 20200609 RGD DNA:repeats,insertion/deletion:5'UTR, 3'UTR: PMID:18774170|REF_RGD_ID:11075096 11668596 TYMS thymidylate synthetase gene DOID:9296 cleft lip ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 11668596 TYMS thymidylate synthetase gene DOID:936 brain disease ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20714149 11668596 TYMS thymidylate synthetase gene DOID:9538 multiple myeloma no_association ISO RGD:732334 D RGD:9068941 20200609 RGD DNA:repeats:5'UTR: PMID:17655928|REF_RGD_ID:11075095 11668596 TYMS thymidylate synthetase gene DOID:9538 multiple myeloma treatment ISO RGD:732334 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:17512053|REF_RGD_ID:11075094 11668596 TYMS thymidylate synthetase gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:732334 D RGD:9068941 20200609 RGD DNA:repeats: : rs347430033(human) PMID:25007187|REF_RGD_ID:11080979 11668607 LYPD4 LY6/PLAUR domain containing 4 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11668607 LYPD4 LY6/PLAUR domain containing 4 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1602183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11668607 LYPD4 LY6/PLAUR domain containing 4 gene DOID:2340 craniosynostosis ISO RGD:1602183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11668607 LYPD4 LY6/PLAUR domain containing 4 gene DOID:5419 schizophrenia ISO RGD:1602183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11668607 LYPD4 LY6/PLAUR domain containing 4 gene DOID:630 genetic disease ISO RGD:1602183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668607 LYPD4 LY6/PLAUR domain containing 4 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1602183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11668607 LYPD4 LY6/PLAUR domain containing 4 gene DOID:9269 maple syrup urine disease ISO RGD:1602183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11668620 LOC100977487 diphosphoinositol polyphosphate phosphohydrolase 3-beta gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11668620 LOC100977487 diphosphoinositol polyphosphate phosphohydrolase 3-beta gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1343668 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 11668620 LOC100977487 diphosphoinositol polyphosphate phosphohydrolase 3-beta gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1343668 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 11668620 LOC100977487 diphosphoinositol polyphosphate phosphohydrolase 3-beta gene DOID:12849 autistic disorder ISO RGD:1343668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11668620 LOC100977487 diphosphoinositol polyphosphate phosphohydrolase 3-beta gene DOID:630 genetic disease ISO RGD:1343668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668624 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:0112361 spondylocostal dysostosis 3 ISO RGD:1350319 D RGD:7240710 20180130 OMIM 11668624 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:0112361 spondylocostal dysostosis 3 ISO RGD:1350319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 3, autosomal recessive PMID:16385447|PMID:17576681|PMID:25741868|PMID:28492532|PMID:29459493|PMID:30531807|PMID:9536098 11668624 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:0112362 spondylocostal dysostosis 2 ISO RGD:1350319 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive PMID:16385447 11668624 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:630 genetic disease ISO RGD:1350319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11668624 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:9003268 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal ISO RGD:1350319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal PMID:22279524|PMID:25500575|PMID:28492532 11668624 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:9006006 Spondylocostal Dysostosis, Autosomal Recessive ISO RGD:1350319 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11668635 ADAD2 adenosine deaminase domain containing 2 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1602291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 11668635 ADAD2 adenosine deaminase domain containing 2 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1602291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 11668635 ADAD2 adenosine deaminase domain containing 2 gene DOID:630 genetic disease ISO RGD:1602291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668660 ATP6V1E2 ATPase H+ transporting V1 subunit E2 gene DOID:3883 Lynch syndrome ISO RGD:1323263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11668660 ATP6V1E2 ATPase H+ transporting V1 subunit E2 gene DOID:630 genetic disease ISO RGD:1323263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668680 GRM3 glutamate metabotropic receptor 3 gene DOID:1826 epilepsy ISO RGD:732815 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 11668680 GRM3 glutamate metabotropic receptor 3 gene DOID:1909 melanoma ISO RGD:732815 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21946352|PMID:22842228 11668680 GRM3 glutamate metabotropic receptor 3 gene DOID:3328 temporal lobe epilepsy ISO RGD:732815 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18804094 11668680 GRM3 glutamate metabotropic receptor 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11668680 GRM3 glutamate metabotropic receptor 3 gene DOID:5419 schizophrenia ISO RGD:732815 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18256595 11668680 GRM3 glutamate metabotropic receptor 3 gene DOID:630 genetic disease ISO RGD:732815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668706 ZC3H6 zinc finger CCCH-type containing 6 gene DOID:630 genetic disease ISO RGD:1322317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668722 ZIK1 zinc finger protein interacting with K protein 1 gene DOID:630 genetic disease ISO RGD:1604492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668749 NUDT6 nudix hydrolase 6 gene DOID:630 genetic disease ISO RGD:735257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668749 NUDT6 nudix hydrolase 6 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:735257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:26299366|PMID:28492532 11668749 NUDT6 nudix hydrolase 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11668767 OAZ3 ornithine decarboxylase antizyme 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1347463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11668767 OAZ3 ornithine decarboxylase antizyme 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1347463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11668767 OAZ3 ornithine decarboxylase antizyme 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1347463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11668767 OAZ3 ornithine decarboxylase antizyme 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1347463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11668767 OAZ3 ornithine decarboxylase antizyme 3 gene DOID:5812 MHC class II deficiency ISO RGD:1347463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11668767 OAZ3 ornithine decarboxylase antizyme 3 gene DOID:630 genetic disease ISO RGD:1347463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668767 OAZ3 ornithine decarboxylase antizyme 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11668788 LOC100986087 zinc finger protein 841 gene DOID:630 genetic disease ISO RGD:2303672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668806 NUP133 nucleoporin 133 gene DOID:0080393 nephrotic syndrome type 18 ISO RGD:1317249 D RGD:7240710 20190315 OMIM 11668806 NUP133 nucleoporin 133 gene DOID:0080393 nephrotic syndrome type 18 ISO RGD:1317249 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 18 PMID:25741868|PMID:28492532|PMID:30179222 11668806 NUP133 nucleoporin 133 gene DOID:1540 parathyroid carcinoma ISO RGD:1317249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11668806 NUP133 nucleoporin 133 gene DOID:1826 epilepsy ISO RGD:1317249 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11668806 NUP133 nucleoporin 133 gene DOID:630 genetic disease ISO RGD:1317249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11668806 NUP133 nucleoporin 133 gene DOID:9005443 Galloway-Mowat Syndrome 8 ISO RGD:1317249 D RGD:7240710 20190315 OMIM 11668806 NUP133 nucleoporin 133 gene DOID:9005443 Galloway-Mowat Syndrome 8 ISO RGD:1317249 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 PMID:11793129|PMID:25741868|PMID:28492532|PMID:30427554 11668806 NUP133 nucleoporin 133 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1317249 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 11668806 NUP133 nucleoporin 133 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11668837 CHRDL1 chordin like 1 gene DOID:0060305 megalocornea ISO RGD:1349204 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Isolated congenital megalocornea | ClinVar Annotator: match by term: Megalocornea PMID:22284829|PMID:25093588|PMID:25712132|PMID:25741868|PMID:26938784 11668837 CHRDL1 chordin like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11668837 CHRDL1 chordin like 1 gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:1349204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 PMID:28492532 11668837 CHRDL1 chordin like 1 gene DOID:12849 autistic disorder ISO RGD:1349204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11668837 CHRDL1 chordin like 1 gene DOID:5419 schizophrenia ISO RGD:1349204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11668837 CHRDL1 chordin like 1 gene DOID:630 genetic disease ISO RGD:1349204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668860 RPE ribulose-5-phosphate-3-epimerase gene DOID:14557 primary pulmonary hypertension ISO RGD:1320609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11668860 RPE ribulose-5-phosphate-3-epimerase gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1320609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11668860 RPE ribulose-5-phosphate-3-epimerase gene DOID:630 genetic disease ISO RGD:1320609 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668860 RPE ribulose-5-phosphate-3-epimerase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1321051 D RGD:7240710 20180509 OMIM 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1321051 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:10024875|PMID:11809908|PMID:14566336|PMID:16199547|PMID:16507770|PMID:16537806|PMID:16551969|PMID:17576681|PMID:23265383|PMID:23403622|PMID:24033266|PMID:25741868|PMID:25980904|PMID:27781387|PMID:28492532|PMID:31898847|PMID:32935436|PMID:8042664|PMID:9536098 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:10283 prostate cancer ISO RGD:1321051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:1059 intellectual disability ISO RGD:1321051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:1227 neutropenia ISO RGD:1321051 D RGD:9068941 20200609 RGD PMID:12125811|REF_RGD_ID:1578409 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:12800 mucopolysaccharidosis VI ISO RGD:1321051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 PMID:10036316|PMID:17458871|PMID:18486607|PMID:28492532 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:2213 hemorrhagic disease ISO RGD:1321051 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532|PMID:32935436 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:2223 platelet storage pool deficiency ISO RGD:1321052 D RGD:9068941 20220825 MouseDO OMIM:185050 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1321051 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:24033266|PMID:25741868|PMID:28492532|PMID:31898847 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:3082 interstitial lung disease ISO RGD:1321051 D RGD:9068941 20200609 RGD associated with Hermansky-Pudlak Syndrome 2;DNA:snps, missense mutation, nonsense mutations:exons, introns:multiple (human) PMID:22009278|REF_RGD_ID:11096518 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1321051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:16507770|PMID:23403622|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31898847 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1321051 D RGD:9068941 20200609 RGD PMID:12125811|REF_RGD_ID:1578409 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:5339 cyclic hematopoiesis ISO RGD:12137585 D RGD:9068941 20220825 OMIA Neutropenia, cyclic PMID:1013155|PMID:1167851|PMID:1251140|PMID:1259228|PMID:12750178|PMID:127610|PMID:12897784|PMID:1379221|PMID:15059607|PMID:15576359|PMID:16610934|PMID:1699776|PMID:17053055|PMID:173440|PMID:1893969|PMID:18951469|PMID:19208418|PMID:19941936|PMID:2172633|PMID:22285163|PMID:22845776|PMID:2458781|PMID:2830927|PMID:2945680|PMID:2979797|PMID:3026784|PMID:3181344|PMID:336117|PMID:347941|PMID:3491636|PMID:351627|PMID:35904319|PMID:3607647|PMID:3996494|PMID:4170467|PMID:438337|PMID:4430726|PMID:4587264|PMID:4591036|PMID:4612548|PMID:4703853|PMID:47249|PMID:4795953|PMID:4796766|PMID:4834515|PMID:5054471|PMID:5054472|PMID:5366324|PMID:5529685|PMID:5534257|PMID:5581910|PMID:568046|PMID:6067150|PMID:6096876|PMID:6506453|PMID:6759148|PMID:6803622|PMID:6837566|PMID:6846503|PMID:6853718|PMID:686147|PMID:6884440|PMID:6972315|PMID:6976196|PMID:7011123|PMID:7059519|PMID:7060078|PMID:7066210|PMID:710550|PMID:719169|PMID:7281477|PMID:7350939|PMID:738429|PMID:738763|PMID:7405719|PMID:7474871|PMID:7519075|PMID:7528575|PMID:8737267|PMID:955040|PMID:995965 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:630 genetic disease ISO RGD:1321051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11668918 PANK4 pantothenate kinase 4 (inactive) gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:731329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11668918 PANK4 pantothenate kinase 4 (inactive) gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:731329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11668918 PANK4 pantothenate kinase 4 (inactive) gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:731329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11668918 PANK4 pantothenate kinase 4 (inactive) gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:731329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11668918 PANK4 pantothenate kinase 4 (inactive) gene DOID:0110994 Joubert syndrome 25 ISO RGD:731329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11668918 PANK4 pantothenate kinase 4 (inactive) gene DOID:0111934 immunodeficiency 38 ISO RGD:731329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11668918 PANK4 pantothenate kinase 4 (inactive) gene DOID:0111935 immunodeficiency 16 ISO RGD:731329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11668918 PANK4 pantothenate kinase 4 (inactive) gene DOID:630 genetic disease ISO RGD:731329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668918 PANK4 pantothenate kinase 4 (inactive) gene DOID:83 cataract ISO RGD:1550985 D RGD:9068941 20220825 MouseDO OMIM:601371 11668918 PANK4 pantothenate kinase 4 (inactive) gene DOID:9001743 Cataract 49 ISO RGD:731329 D RGD:7240710 20211110 OMIM 11668918 PANK4 pantothenate kinase 4 (inactive) gene DOID:9001743 Cataract 49 ISO RGD:731329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 49 PMID:30585370 11668918 PANK4 pantothenate kinase 4 (inactive) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11668918 PANK4 pantothenate kinase 4 (inactive) gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:731329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11668918 PANK4 pantothenate kinase 4 (inactive) gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:731329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11668940 TM6SF1 transmembrane 6 superfamily member 1 gene DOID:13938 amenorrhea ISO RGD:1317482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11668940 TM6SF1 transmembrane 6 superfamily member 1 gene DOID:2717 Bloom syndrome ISO RGD:1317482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11668940 TM6SF1 transmembrane 6 superfamily member 1 gene DOID:630 genetic disease ISO RGD:1317482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668940 TM6SF1 transmembrane 6 superfamily member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11668940 TM6SF1 transmembrane 6 superfamily member 1 gene DOID:9256 colorectal cancer ISO RGD:1317482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11668957 YJEFN3 YjeF N-terminal domain containing 3 gene DOID:11054 urinary bladder cancer ISO RGD:1605797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 11668957 YJEFN3 YjeF N-terminal domain containing 3 gene DOID:630 genetic disease ISO RGD:1605797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668982 GGACT gamma-glutamylamine cyclotransferase gene DOID:0110878 holoprosencephaly 5 ISO RGD:2299985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 11668982 GGACT gamma-glutamylamine cyclotransferase gene DOID:14701 propionic acidemia ISO RGD:2299985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:15464417|PMID:19157943|PMID:22033733|PMID:28492532 11668982 GGACT gamma-glutamylamine cyclotransferase gene DOID:4621 holoprosencephaly ISO RGD:2299985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 11668982 GGACT gamma-glutamylamine cyclotransferase gene DOID:630 genetic disease ISO RGD:2299985 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668982 GGACT gamma-glutamylamine cyclotransferase gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:2299985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11669000 CPNE3 copine 3 gene DOID:630 genetic disease ISO RGD:1320926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669000 CPNE3 copine 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18264096 11669021 LONRF1 LON peptidase N-terminal domain and ring finger 1 gene DOID:630 genetic disease ISO RGD:1605309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1354126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1354126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:1596 depressive disorder ISO RGD:1354126 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21871532 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:1596 depressive disorder susceptibility ISO RGD:732064 D RGD:9068941 20200609 RGD PMID:16906152|REF_RGD_ID:9831184 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:1826 epilepsy susceptibility ISO RGD:732064 D RGD:9068941 20200609 RGD PMID:15175651|REF_RGD_ID:9831121 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:224 transient cerebral ischemia ISO RGD:621448 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:25062759|REF_RGD_ID:9831122 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:224 transient cerebral ischemia severity ISO RGD:732064 D RGD:9068941 20200609 RGD PMID:15175651|REF_RGD_ID:9831121 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:224 transient cerebral ischemia treatment ISO RGD:621448 D RGD:9068941 20200609 RGD PMID:24154701|REF_RGD_ID:9831178 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:2316 brain ischemia ISO RGD:621448 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:14741413|REF_RGD_ID:9831127 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:5844 myocardial infarction ISO RGD:621448 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle, epicardium, endocardium (rat) PMID:21683547|REF_RGD_ID:9831182 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:6000 congestive heart failure ISO RGD:621448 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary:mRNA:decreased expression:heart right ventricle (rat) PMID:25016242|REF_RGD_ID:9831185 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:630 genetic disease ISO RGD:1354126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:621448 D RGD:9068941 20200609 RGD PMID:22425721|REF_RGD_ID:9831183 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:9002211 Hyperalgesia ISO RGD:732064 D RGD:9068941 20200609 RGD PMID:16675954|REF_RGD_ID:9831112 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:621448 D RGD:9068941 20200609 RGD protein:increased expression:endocardium of left ventricle (rat) PMID:23232841|REF_RGD_ID:9831114 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:9005372 Inflammation ISO RGD:621448 D RGD:9068941 20200609 RGD mRNA:decreased expression:dorsal root ganglia (rat) PMID:22273507|REF_RGD_ID:9831113 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:621448 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle, epicardium, endocardium (rat) PMID:24705172|REF_RGD_ID:9831164 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11669056 PUSL1 pseudouridine synthase like 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1353807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11669056 PUSL1 pseudouridine synthase like 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1353807 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11669056 PUSL1 pseudouridine synthase like 1 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1353807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11669056 PUSL1 pseudouridine synthase like 1 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1353807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11669056 PUSL1 pseudouridine synthase like 1 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1353807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11669056 PUSL1 pseudouridine synthase like 1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1353807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11669056 PUSL1 pseudouridine synthase like 1 gene DOID:0111934 immunodeficiency 38 ISO RGD:1353807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11669056 PUSL1 pseudouridine synthase like 1 gene DOID:0111935 immunodeficiency 16 ISO RGD:1353807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11669056 PUSL1 pseudouridine synthase like 1 gene DOID:630 genetic disease ISO RGD:1353807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669056 PUSL1 pseudouridine synthase like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11669056 PUSL1 pseudouridine synthase like 1 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1353807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11669056 PUSL1 pseudouridine synthase like 1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1353807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11669068 RCSD1 RCSD domain containing 1 gene DOID:0111942 immunodeficiency 25 ISO RGD:1603598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 11669068 RCSD1 RCSD domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1603598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11669068 RCSD1 RCSD domain containing 1 gene DOID:630 genetic disease ISO RGD:1603598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669068 RCSD1 RCSD domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11669068 RCSD1 RCSD domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11669080 C9H9orf85 chromosome 9 C9orf85 homolog gene DOID:630 genetic disease ISO RGD:1605873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669093 NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1320359 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11669093 NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1320359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 11669093 NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:0112097 nuclear type mitochondrial complex I deficiency 33 ISO RGD:1320359 D RGD:7240710 20190315 OMIM 11669093 NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:0112097 nuclear type mitochondrial complex I deficiency 33 ISO RGD:1320359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 PMID:25741868|PMID:28492532|PMID:30245030|PMID:30847515 11669093 NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:1059 intellectual disability ISO RGD:1320359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11669093 NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:10652 Alzheimer's disease ISO RGD:1320359 D RGD:9068941 20200609 RGD mRNA:increased expression:blood PMID:26943237|REF_RGD_ID:11572212 11669093 NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:630 genetic disease ISO RGD:1320359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:30245030|PMID:30847515 11669093 NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:700 mitochondrial metabolism disease ISO RGD:1320359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:30245030|PMID:30847515 11669093 NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1320359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 11669100 TGM3 transglutaminase 3 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1343492 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11669100 TGM3 transglutaminase 3 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1343492 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11669100 TGM3 transglutaminase 3 gene DOID:630 genetic disease ISO RGD:1343492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669100 TGM3 transglutaminase 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1343492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11669100 TGM3 transglutaminase 3 gene DOID:9001368 Uncombable Hair Syndrome 2 ISO RGD:1343492 D RGD:7240710 20190315 OMIM 11669100 TGM3 transglutaminase 3 gene DOID:9001368 Uncombable Hair Syndrome 2 ISO RGD:1343492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uncombable hair syndrome 2 PMID:24183230|PMID:27866708 11669100 TGM3 transglutaminase 3 gene DOID:9005997 Uncombable Hair Syndrome ISO RGD:1343492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11669119 HSH2D hematopoietic SH2 domain containing gene DOID:630 genetic disease ISO RGD:1313876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669130 DNM2 dynamin 2 gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:730970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate PMID:28492532 11669130 DNM2 dynamin 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:730970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11669130 DNM2 dynamin 2 gene DOID:0080089 tubular aggregate myopathy 1 ISO RGD:730970 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY, AUTOSOMAL DOMINANT PMID:16227997|PMID:18414213|PMID:20529869|PMID:20858595|PMID:22096584|PMID:22369075|PMID:22396310|PMID:24088041|PMID:25741868|PMID:26633545|PMID:2734399|PMID:27343996|PMID:28492532 11669130 DNM2 dynamin 2 gene DOID:0080307 myofibrillar myopathy ISO RGD:730970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy PMID:25741868|PMID:28492532 11669130 DNM2 dynamin 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:730970 D RGD:7240710 20180509 OMIM 11669130 DNM2 dynamin 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:730970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2M | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate B, with neutropenia PMID:15731758|PMID:16199547|PMID:16227997|PMID:17008356|PMID:17576681|PMID:17636067|PMID:17932957|PMID:18414213|PMID:18560793|PMID:19122038|PMID:19130742|PMID:19502294|PMID:19623537|PMID:19932619|PMID:19932620|PMID:20227276|PMID:20529869|PMID:20700106|PMID:20817456|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22091729|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22451505|PMID:22613877|PMID:23338057|PMID:23394783|PMID:23806086|PMID:24016602|PMID:24033266|PMID:24088041|PMID:24135484|PMID:24215330|PMID:24366529|PMID:24465259|PMID:24728327|PMID:25214167|PMID:25259927|PMID:25262827|PMID:25326635|PMID:25492887|PMID:25501959|PMID:25640679|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26275793|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26842864|PMID:26908122|PMID:27328317|PMID:2734399|PMID:27343996|PMID:27549087|PMID:27698851|PMID:27854218|PMID:28166811|PMID:28357347|PMID:28357410|PMID:28492532|PMID:28676641|PMID:28708278|PMID:28971531|PMID:29653220|PMID:30103202|PMID:30146126|PMID:30208955|PMID:30373780|PMID:32528171|PMID:32860008|PMID:33333461|PMID:34008892|PMID:9536098 11669130 DNM2 dynamin 2 gene DOID:0111217 autosomal dominant centronuclear myopathy ISO RGD:730970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:16199547|PMID:16227997|PMID:17008356|PMID:17932957|PMID:18414213|PMID:19130742|PMID:19623537|PMID:19932619|PMID:20227276|PMID:20529869|PMID:20700106|PMID:20817456|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23374900|PMID:23394783|PMID:24016602|PMID:24033266|PMID:24088041|PMID:24135484|PMID:24366529|PMID:24465259|PMID:24728327|PMID:25214167|PMID:25262827|PMID:25326635|PMID:25492887|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26633545|PMID:26842864|PMID:26908122|PMID:2734399|PMID:27343996|PMID:27698851|PMID:27854218|PMID:28492532|PMID:28676641|PMID:30103202|PMID:32860008|PMID:34008892 11669130 DNM2 dynamin 2 gene DOID:0111223 centronuclear myopathy 1 ISO RGD:730970 D RGD:7240710 20180509 OMIM 11669130 DNM2 dynamin 2 gene DOID:0111223 centronuclear myopathy 1 ISO RGD:730970 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Centronuclear Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, centronuclear, 1 PMID:16227997|PMID:18414213|PMID:20529869|PMID:20858595|PMID:22096584|PMID:22369075|PMID:22396310|PMID:24088041|PMID:25741868|PMID:26633545|PMID:2734399|PMID:27343996|PMID:28492532 11669130 DNM2 dynamin 2 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:730970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:17932957|PMID:18414213|PMID:20227276|PMID:20700106|PMID:22396310|PMID:23338057|PMID:24135484|PMID:25741868|PMID:25957634|PMID:26199319|PMID:28492532|PMID:32860008 11669130 DNM2 dynamin 2 gene DOID:0111254 glutaric acidemia I ISO RGD:730970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11669130 DNM2 dynamin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:730970 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:15731758|PMID:16227997|PMID:17636067|PMID:18394888|PMID:18414213|PMID:20529869|PMID:20817456|PMID:21762456|PMID:22091729|PMID:22613877|PMID:24016602|PMID:25025039|PMID:25492887|PMID:25501959|PMID:25741868|PMID:27328317|PMID:28492532|PMID:28676641 11669130 DNM2 dynamin 2 gene DOID:11252 microcytic anemia ISO RGD:730971 D RGD:9068941 20221117 MouseDO OMIM:206200 11669130 DNM2 dynamin 2 gene DOID:13810 familial hypercholesterolemia ISO RGD:730970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:28492532 11669130 DNM2 dynamin 2 gene DOID:14717 centronuclear myopathy ISO RGD:730970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Centronuclear myopathy PMID:16227997|PMID:17008356|PMID:17932957|PMID:18414213|PMID:19130742|PMID:19932620|PMID:20227276|PMID:20529869|PMID:20700106|PMID:20817456|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23394783|PMID:24016602|PMID:24088041|PMID:24135484|PMID:24366529|PMID:24465259|PMID:25262827|PMID:25326635|PMID:25492887|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26633545|PMID:26842864|PMID:26908122|PMID:2734399|PMID:27343996|PMID:28492532|PMID:28676641|PMID:32860008 11669130 DNM2 dynamin 2 gene DOID:2975 cystic kidney disease ISO RGD:730971 D RGD:9068941 20220825 MouseDO 11669130 DNM2 dynamin 2 gene DOID:3413 alpha-mannosidosis ISO RGD:730970 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11669130 DNM2 dynamin 2 gene DOID:422 congenital structural myopathy ISO RGD:730970 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:16227997|PMID:17008356|PMID:17932957|PMID:18414213|PMID:19130742|PMID:20227276|PMID:20529869|PMID:20817456|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23394783|PMID:24016602|PMID:24033266|PMID:24088041|PMID:24465259|PMID:24728327|PMID:25214167|PMID:25262827|PMID:25326635|PMID:25492887|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26633545|PMID:26842864|PMID:26908122|PMID:2734399|PMID:27343996|PMID:27698851|PMID:27854218|PMID:28492532|PMID:28676641|PMID:30103202|PMID:32860008|PMID:34008892 11669130 DNM2 dynamin 2 gene DOID:422 congenital structural myopathy ISO RGD:730970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:16199547|PMID:16227997|PMID:17008356|PMID:17932957|PMID:18414213|PMID:19130742|PMID:19623537|PMID:19932619|PMID:20227276|PMID:20529869|PMID:20700106|PMID:20817456|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23374900|PMID:23394783|PMID:24016602|PMID:24033266|PMID:24088041|PMID:24135484|PMID:24366529|PMID:24465259|PMID:24728327|PMID:25214167|PMID:25262827|PMID:25326635|PMID:25492887|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26633545|PMID:26842864|PMID:26908122|PMID:2734399|PMID:27343996|PMID:27698851|PMID:27854218|PMID:28492532|PMID:28676641|PMID:30103202|PMID:32860008|PMID:34008892 11669130 DNM2 dynamin 2 gene DOID:423 myopathy ISO RGD:730970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:16227997|PMID:17008356|PMID:18414213|PMID:19130742|PMID:20227276|PMID:20529869|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23394783|PMID:24465259|PMID:25262827|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:28492532 11669130 DNM2 dynamin 2 gene DOID:574 peripheral nervous system disease ISO RGD:730970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:18414213|PMID:24728327|PMID:26467025|PMID:27854218|PMID:28492532 11669130 DNM2 dynamin 2 gene DOID:630 genetic disease ISO RGD:730970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:22730194|PMID:24215330|PMID:24728327|PMID:25214167|PMID:25501959|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26517984|PMID:27698851|PMID:27854218|PMID:28492532|PMID:28708278|PMID:30103202|PMID:30146126|PMID:33333461|PMID:9536098 11669130 DNM2 dynamin 2 gene DOID:870 neuropathy ISO RGD:730970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:18414213|PMID:24728327|PMID:26467025|PMID:27854218|PMID:28492532 11669130 DNM2 dynamin 2 gene DOID:9004426 Lethal Congenital Contracture Syndrome 5 ISO RGD:730970 D RGD:7240710 20180509 OMIM 11669130 DNM2 dynamin 2 gene DOID:9004426 Lethal Congenital Contracture Syndrome 5 ISO RGD:730970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 5 PMID:23092955|PMID:25741868 11669130 DNM2 dynamin 2 gene DOID:9008014 Charcot-Marie-Tooth Disease, Dominant Intermediate 1 ISO RGD:730970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate 1 PMID:16227997|PMID:18414213|PMID:18560793|PMID:19502294|PMID:20529869|PMID:20858595|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22451505|PMID:23806086|PMID:24088041|PMID:25259927|PMID:25741868|PMID:26467025|PMID:26633545|PMID:2734399|PMID:27343996|PMID:28357347|PMID:28492532 11669130 DNM2 dynamin 2 gene DOID:9277 primary cerebellar degeneration ISO RGD:730970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorimotor neuropathy PMID:17636067|PMID:25741868|PMID:28492532|PMID:30373780 11669162 MIF4GD MIF4G domain containing gene DOID:630 genetic disease ISO RGD:1606529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669241 SRGN serglycin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11669249 SCFD1 sec1 family domain containing 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1350281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 11669249 SCFD1 sec1 family domain containing 1 gene DOID:630 genetic disease ISO RGD:1350281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669249 SCFD1 sec1 family domain containing 1 gene DOID:9004009 Reperfusion Injury ISO RGD:619828 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:9195952|REF_RGD_ID:633771 11669249 SCFD1 sec1 family domain containing 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1350281 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11669283 CHST10 carbohydrate sulfotransferase 10 gene DOID:0060041 autism spectrum disorder ISO RGD:1353236 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11669283 CHST10 carbohydrate sulfotransferase 10 gene DOID:630 genetic disease ISO RGD:1353236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669316 SEC31B SEC31 homolog B, COPII coat complex component gene DOID:630 genetic disease ISO RGD:1317006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669351 CHMP3 charged multivesicular body protein 3 gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1351348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 11669365 KLK12 kallikrein related peptidase 12 gene DOID:630 genetic disease ISO RGD:1319061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669376 LOC100971127 arachidonate 15-lipoxygenase type B gene DOID:0060041 autism spectrum disorder ISO RGD:731629 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11669376 LOC100971127 arachidonate 15-lipoxygenase type B gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:731629 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11669376 LOC100971127 arachidonate 15-lipoxygenase type B gene DOID:0080600 COVID-19 ISO RGD:731629 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11669376 LOC100971127 arachidonate 15-lipoxygenase type B gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:731629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:28492532 11669376 LOC100971127 arachidonate 15-lipoxygenase type B gene DOID:12177 common variable immunodeficiency ISO RGD:731629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11669376 LOC100971127 arachidonate 15-lipoxygenase type B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:731629 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11669376 LOC100971127 arachidonate 15-lipoxygenase type B gene DOID:2729 dyskeratosis congenita ISO RGD:731629 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11669376 LOC100971127 arachidonate 15-lipoxygenase type B gene DOID:3012 Li-Fraumeni syndrome ISO RGD:731629 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 11669376 LOC100971127 arachidonate 15-lipoxygenase type B gene DOID:630 genetic disease ISO RGD:731629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669397 C1QL4 complement C1q like 4 gene DOID:630 genetic disease ISO RGD:1604955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669405 CXCL14 C-X-C motif chemokine ligand 14 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1316586 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11669405 CXCL14 C-X-C motif chemokine ligand 14 gene DOID:2773 contact dermatitis ISO RGD:1316586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11669405 CXCL14 C-X-C motif chemokine ligand 14 gene DOID:2841 asthma ISO RGD:1316586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21150878 11669405 CXCL14 C-X-C motif chemokine ligand 14 gene DOID:289 endometriosis ISO RGD:1316586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 11669405 CXCL14 C-X-C motif chemokine ligand 14 gene DOID:303 substance-related disorder ISO RGD:1316586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11669405 CXCL14 C-X-C motif chemokine ligand 14 gene DOID:5082 liver cirrhosis ISO RGD:1316586 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:33069761 11669405 CXCL14 C-X-C motif chemokine ligand 14 gene DOID:630 genetic disease ISO RGD:1316586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669405 CXCL14 C-X-C motif chemokine ligand 14 gene DOID:684 hepatocellular carcinoma ISO RGD:1316586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11669405 CXCL14 C-X-C motif chemokine ligand 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11669405 CXCL14 C-X-C motif chemokine ligand 14 gene DOID:9005172 Lung Neoplasms ISO RGD:1316586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20562917 11669405 CXCL14 C-X-C motif chemokine ligand 14 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316586 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:0050683 Bothnia retinal dystrophy ISO RGD:1320101 D RGD:7240710 20180130 OMIM 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:0050683 Bothnia retinal dystrophy ISO RGD:1320101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bothnia retinal dystrophy | ClinVar Annotator: match by term: VASTERBOTTEN DYSTROPHY PMID:10102298|PMID:10102299|PMID:11449319|PMID:12536144|PMID:15234312|PMID:15953459|PMID:19846785|PMID:20238024|PMID:22171637|PMID:22183382|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28492532|PMID:32188692 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:1320101 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:11301032|PMID:21447491|PMID:2392416|PMID:25429852|PMID:28492532 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:0111015 Newfoundland cone-rod dystrophy ISO RGD:1320101 D RGD:7240710 20180130 OMIM 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:0111015 Newfoundland cone-rod dystrophy ISO RGD:1320101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Newfoundland cone-rod dystrophy PMID:10102298|PMID:10102299|PMID:11301032|PMID:11449319|PMID:11868161|PMID:15953459|PMID:16199547|PMID:17576681|PMID:21447491|PMID:22171637|PMID:2392416|PMID:23929416|PMID:24265693|PMID:25356976|PMID:25429852|PMID:25741868|PMID:28492532|PMID:28559085|PMID:31872526|PMID:32188692|PMID:34410188|PMID:34795310|PMID:9536098 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1320101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320101 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10102298|PMID:10102299|PMID:11449319|PMID:11453974|PMID:12536144|PMID:14718298|PMID:15953459|PMID:17065479|PMID:18344446|PMID:19846785|PMID:20238024|PMID:22164218|PMID:22171637|PMID:22183382|PMID:22551409|PMID:22559933|PMID:23105016|PMID:23929416|PMID:24265693|PMID:25307992|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30718709|PMID:32188692|PMID:33188265|PMID:34410188|PMID:34795310|PMID:9326942 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:11105 fundus albipunctatus ISO RGD:1320101 D RGD:7240710 20180130 OMIM 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:11105 fundus albipunctatus ISO RGD:1320101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens PMID:10102298|PMID:10102299|PMID:11449319|PMID:11453974|PMID:11868161|PMID:12536144|PMID:15234312|PMID:15953459|PMID:18344446|PMID:19846785|PMID:20238024|PMID:22171637|PMID:22183382|PMID:22551409|PMID:22559933|PMID:23105016|PMID:25307992|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:32188692|PMID:33188265|PMID:9326942 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:11105 fundus albipunctatus ISO RGD:1320101 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens PMID:10102298|PMID:10102299|PMID:11449319|PMID:11453974|PMID:11868161|PMID:12536144|PMID:14718298|PMID:15234312|PMID:15953459|PMID:17576681|PMID:18344446|PMID:19846785|PMID:20238024|PMID:22171637|PMID:22183382|PMID:22551409|PMID:22559933|PMID:23105016|PMID:24265693|PMID:25307992|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:32188692|PMID:33188265|PMID:34795310|PMID:9326942|PMID:9536098 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1320101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:4448 macular degeneration ISO RGD:1320101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30742112 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:630 genetic disease ISO RGD:1320101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:8499 night blindness ISO RGD:1320101 D RGD:9068941 20200609 RGD Fundus albipunctatus, OMIM:180090 PMID:11453974|REF_RGD_ID:1599620 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:8501 fundus dystrophy ISO RGD:1320101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10102299|PMID:11301032|PMID:12536144|PMID:18344446|PMID:21447491|PMID:22551409|PMID:2392416|PMID:23929416|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:32188692 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:9002525 Hereditary Eye Diseases ISO RGD:1320101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16968212 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1320101 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25326637|PMID:25741868|PMID:26355662|PMID:28492532|PMID:32188692 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:9256 colorectal cancer ISO RGD:1320101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11669424 CH25H cholesterol 25-hydroxylase gene DOID:630 genetic disease ISO RGD:1321560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669424 CH25H cholesterol 25-hydroxylase gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1321560 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532 11669424 CH25H cholesterol 25-hydroxylase gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:1321560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 PMID:28492532 11669429 ZSWIM5 zinc finger SWIM-type containing 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1321821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11669429 ZSWIM5 zinc finger SWIM-type containing 5 gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1321821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:28492532 11669429 ZSWIM5 zinc finger SWIM-type containing 5 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1321821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11669429 ZSWIM5 zinc finger SWIM-type containing 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1321821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11669429 ZSWIM5 zinc finger SWIM-type containing 5 gene DOID:630 genetic disease ISO RGD:1321821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669429 ZSWIM5 zinc finger SWIM-type containing 5 gene DOID:9008939 Breast Neoplasms ISO RGD:1321821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 11669456 DCP1A decapping mRNA 1A gene DOID:630 genetic disease ISO RGD:1350050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669471 IMPA2 inositol monophosphatase 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1347157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11669471 IMPA2 inositol monophosphatase 2 gene DOID:1059 intellectual disability ISO RGD:1347157 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11669471 IMPA2 inositol monophosphatase 2 gene DOID:289 endometriosis ISO RGD:1347157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11669471 IMPA2 inositol monophosphatase 2 gene DOID:3312 bipolar disorder ISO RGD:1347157 D RGD:9068941 20200609 RGD PMID:11673796|PMID:9322233|REF_RGD_ID:6480265|REF_RGD_ID:6480269 11669471 IMPA2 inositol monophosphatase 2 gene DOID:3312 bipolar disorder susceptibility ISO RGD:1347157 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-461C>T, -207T>C(human) PMID:14699425|REF_RGD_ID:6480267 11669471 IMPA2 inositol monophosphatase 2 gene DOID:5419 schizophrenia ISO RGD:1347157 D RGD:9068941 20200609 RGD DNA:polymorphisms:intron,exons:-15G>A, 58G>A, 800C>T (human) PMID:11317223|REF_RGD_ID:6480266 11669471 IMPA2 inositol monophosphatase 2 gene DOID:543 dystonia ISO RGD:1347157 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 11669471 IMPA2 inositol monophosphatase 2 gene DOID:630 genetic disease ISO RGD:1347157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669471 IMPA2 inositol monophosphatase 2 gene DOID:9007956 Febrile Seizures ISO RGD:1347157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15557493 11669483 KCTD21 potassium channel tetramerization domain containing 21 gene DOID:1059 intellectual disability ISO RGD:1603870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11669483 KCTD21 potassium channel tetramerization domain containing 21 gene DOID:630 genetic disease ISO RGD:1603870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669498 NT5DC2 5'-nucleotidase domain containing 2 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1601740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 11669498 NT5DC2 5'-nucleotidase domain containing 2 gene DOID:0080600 COVID-19 ISO RGD:1601740 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11669498 NT5DC2 5'-nucleotidase domain containing 2 gene DOID:630 genetic disease ISO RGD:1601740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669518 EPO erythropoietin gene DOID:0050700 cardiomyopathy ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16449733|PMID:16731534|PMID:17924179|PMID:17928571 11669518 EPO erythropoietin gene DOID:0050852 limb ischemia treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:23294128|REF_RGD_ID:10400895 11669518 EPO erythropoietin gene DOID:0050908 myelodysplastic syndrome ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12670338|PMID:16076383 11669518 EPO erythropoietin gene DOID:0060903 thrombosis ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14979412|PMID:25013951 11669518 EPO erythropoietin gene DOID:0080290 familial erythrocytosis 5 ISO RGD:735849 D RGD:7240710 20190315 OMIM 11669518 EPO erythropoietin gene DOID:0080290 familial erythrocytosis 5 ISO RGD:735849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Erythrocytosis, familial, 5 PMID:27651169|PMID:29514032 11669518 EPO erythropoietin gene DOID:10652 Alzheimer's disease treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:22004348|PMID:23813967|REF_RGD_ID:10395389|REF_RGD_ID:10400882 11669518 EPO erythropoietin gene DOID:1074 kidney failure ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22013135 11669518 EPO erythropoietin gene DOID:10763 hypertension ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10694834|PMID:1516988 11669518 EPO erythropoietin gene DOID:10808 gastric ulcer ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20723003 11669518 EPO erythropoietin gene DOID:114 heart disease ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16707910 11669518 EPO erythropoietin gene DOID:11713 diabetic angiopathy ISO RGD:735849 D RGD:7240710 20180130 OMIM 11669518 EPO erythropoietin gene DOID:11713 diabetic angiopathy ISO RGD:735849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 2 PMID:18458324 11669518 EPO erythropoietin gene DOID:11832 visual epilepsy treatment ISO RGD:2559 D RGD:9068941 20200609 RGD PMID:23518641|REF_RGD_ID:10401076 11669518 EPO erythropoietin gene DOID:1184 nephrotic syndrome treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:23128049|REF_RGD_ID:11041725 11669518 EPO erythropoietin gene DOID:12241 beta thalassemia ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16225658 11669518 EPO erythropoietin gene DOID:12450 pancytopenia ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9051142 11669518 EPO erythropoietin gene DOID:12554 hemolytic-uremic syndrome ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12053072 11669518 EPO erythropoietin gene DOID:1289 neurodegenerative disease ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15816862 11669518 EPO erythropoietin gene DOID:1289 neurodegenerative disease susceptibility ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Brain Injuries PMID:16339796|REF_RGD_ID:10400893 11669518 EPO erythropoietin gene DOID:13025 retinopathy of prematurity ISO RGD:2559 D RGD:9068941 20200609 RGD protein:decreased expression:retina: PMID:24630601|REF_RGD_ID:11041658 11669518 EPO erythropoietin gene DOID:13268 porphyria ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus,nephrosclerosis PMID:17435269|REF_RGD_ID:2313839 11669518 EPO erythropoietin gene DOID:1389 polyneuropathy ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17010629 11669518 EPO erythropoietin gene DOID:14330 Parkinson's disease treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:19727138|REF_RGD_ID:10400901 11669518 EPO erythropoietin gene DOID:1561 cognitive disorder ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20833152 11669518 EPO erythropoietin gene DOID:1588 thrombocytopenia ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8260696 11669518 EPO erythropoietin gene DOID:1612 breast cancer ISO RGD:735849 D RGD:9068941 20200609 RGD protein:increased expression:breast: PMID:12118093|REF_RGD_ID:11041669 11669518 EPO erythropoietin gene DOID:1657 ventricular septal defect ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19337937 11669518 EPO erythropoietin gene DOID:1686 glaucoma ISO RGD:2559 D RGD:9068941 20200609 RGD protein:increased expression:retina: PMID:17554621|REF_RGD_ID:11041649 11669518 EPO erythropoietin gene DOID:1686 glaucoma ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:17554621|PMID:19741249|REF_RGD_ID:10401071|REF_RGD_ID:11041649 11669518 EPO erythropoietin gene DOID:178 vascular disease ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25013951 11669518 EPO erythropoietin gene DOID:182 calcinosis ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12148126 11669518 EPO erythropoietin gene DOID:1824 status epilepticus ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16679645|PMID:17166730 11669518 EPO erythropoietin gene DOID:1909 melanoma ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15743794 11669518 EPO erythropoietin gene DOID:224 transient cerebral ischemia treatment ISO RGD:2559 D RGD:9068941 20200609 RGD PMID:22282883|REF_RGD_ID:10401060 11669518 EPO erythropoietin gene DOID:224 transient cerebral ischemia treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:24702327|REF_RGD_ID:11041699 11669518 EPO erythropoietin gene DOID:2355 anemia ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10506726|PMID:10713657|PMID:11245434|PMID:11273875|PMID:11454181|PMID:11569724|PMID:11828949|PMID:11981781|PMID:12670280|PMID:12713065|PMID:12820454|PMID:12897097|PMID:12899718|PMID:14568602|PMID:14706663|PMID:15160343|PMID:1516988|PMID:15232364|PMID:15660393|PMID:1574960|PMID:16434484|PMID:16511603|PMID:16637862|PMID:16707910|PMID:16798232|PMID:16949463|PMID:16970215|PMID:16970600|PMID:17058596|PMID:17168855|PMID:17180133|PMID:17288690|PMID:17397412|PMID:17409018|PMID:17559739|PMID:18265628|PMID:18403296|PMID:18611800|PMID:18695134|PMID:1893952|PMID:19015056|PMID:19212639|PMID:19787831|PMID:1982298|PMID:20189893|PMID:20303990|PMID:21860424|PMID:2186273|PMID:2206997|PMID:22174104|PMID:23077460|PMID:7529132|PMID:7602351|PMID:7631396|PMID:7732690|PMID:8202718|PMID:8250662|PMID:8260696|PMID:8418619|PMID:8504984|PMID:9118049|PMID:9616293|PMID:9617462|PMID:9743294 11669518 EPO erythropoietin gene DOID:2355 anemia ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum PMID:15855576|REF_RGD_ID:2313896 11669518 EPO erythropoietin gene DOID:2355 anemia ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetic Nephropathies;protein:decreased expression:serum PMID:16681558|REF_RGD_ID:2313843 11669518 EPO erythropoietin gene DOID:3021 acute kidney failure ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21847101|PMID:24561306 11669518 EPO erythropoietin gene DOID:3021 acute kidney failure treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:22209169|PMID:22235348|REF_RGD_ID:10400913|REF_RGD_ID:11041660 11669518 EPO erythropoietin gene DOID:3070 high grade glioma ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:21749867|REF_RGD_ID:10400910 11669518 EPO erythropoietin gene DOID:331 central nervous system disease ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15816862 11669518 EPO erythropoietin gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:735849 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:17368721|REF_RGD_ID:10395391 11669518 EPO erythropoietin gene DOID:3393 coronary artery disease ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25245553 11669518 EPO erythropoietin gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:20547143|PMID:20833153|REF_RGD_ID:10400898|REF_RGD_ID:10401066 11669518 EPO erythropoietin gene DOID:3827 congenital diaphragmatic hernia ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27880037 11669518 EPO erythropoietin gene DOID:3891 placental insufficiency treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:20809703|REF_RGD_ID:10400897 11669518 EPO erythropoietin gene DOID:4449 macular retinal edema severity ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:20664492|REF_RGD_ID:10400883 11669518 EPO erythropoietin gene DOID:4676 uremia ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12675867 11669518 EPO erythropoietin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11669518 EPO erythropoietin gene DOID:4947 cholangiocarcinoma ISO RGD:2559 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:23052842|REF_RGD_ID:10400912 11669518 EPO erythropoietin gene DOID:5327 retinal detachment ISO RGD:2559 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:retina: PMID:17882708|REF_RGD_ID:11041648 11669518 EPO erythropoietin gene DOID:5327 retinal detachment treatment ISO RGD:2559 D RGD:9068941 20200609 RGD PMID:22020175|REF_RGD_ID:10401069 11669518 EPO erythropoietin gene DOID:557 kidney disease ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20606417 11669518 EPO erythropoietin gene DOID:583 hemolytic anemia ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10733367|PMID:16629641|PMID:20446436 11669518 EPO erythropoietin gene DOID:5844 myocardial infarction ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19337937 11669518 EPO erythropoietin gene DOID:5844 myocardial infarction treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:21415704|REF_RGD_ID:10400907 11669518 EPO erythropoietin gene DOID:6000 congestive heart failure treatment ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Myocardial Infarction PMID:20139114|REF_RGD_ID:10401073 11669518 EPO erythropoietin gene DOID:627 severe combined immunodeficiency ISO RGD:10531 D RGD:9068941 20200609 RGD Protein: decreased expression:skin PMID:19826948|REF_RGD_ID:2313831 11669518 EPO erythropoietin gene DOID:630 genetic disease ISO RGD:735849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669518 EPO erythropoietin gene DOID:6432 pulmonary hypertension treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:22559233|REF_RGD_ID:10400914 11669518 EPO erythropoietin gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735849 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 11669518 EPO erythropoietin gene DOID:783 end stage renal disease ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16707910 11669518 EPO erythropoietin gene DOID:8466 retinal degeneration treatment ISO RGD:10531 D RGD:9068941 20200609 RGD PMID:21421996|REF_RGD_ID:10400896 11669518 EPO erythropoietin gene DOID:8725 vascular dementia ISO RGD:2559 D RGD:9068941 20200609 RGD PMID:17037738|REF_RGD_ID:10400891 11669518 EPO erythropoietin gene DOID:8947 diabetic retinopathy ISO RGD:735849 D RGD:9068941 20200609 RGD DNA:snp:promoter:-1125T>G(rs1617640)(human) PMID:18458324|REF_RGD_ID:2313838 11669518 EPO erythropoietin gene DOID:8947 diabetic retinopathy ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18235022|REF_RGD_ID:2313890 11669518 EPO erythropoietin gene DOID:8947 diabetic retinopathy ISO RGD:735849 D RGD:9068941 20200609 RGD protein:increased expression:serum,vitreous body PMID:18670462|REF_RGD_ID:2313837 11669518 EPO erythropoietin gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24508793|REF_RGD_ID:10400906 11669518 EPO erythropoietin gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:22196867|REF_RGD_ID:10401074 11669518 EPO erythropoietin gene DOID:9000046 Poisoning ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15727166 11669518 EPO erythropoietin gene DOID:9000184 Ventricular Fibrillation ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18156309 11669518 EPO erythropoietin gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:23907045|REF_RGD_ID:10400909 11669518 EPO erythropoietin gene DOID:9000656 Penetrating Wounds treatment ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21326299|REF_RGD_ID:10401063 11669518 EPO erythropoietin gene DOID:9000892 Fetal Distress ISO RGD:2559 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain, serum PMID:22099204|REF_RGD_ID:10401064 11669518 EPO erythropoietin gene DOID:9000965 Neoplasm Metastasis ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16699298 11669518 EPO erythropoietin gene DOID:9000998 Brain Injuries ISO RGD:2559 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:18093155|REF_RGD_ID:2293059 11669518 EPO erythropoietin gene DOID:9000998 Brain Injuries ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20833152 11669518 EPO erythropoietin gene DOID:9000998 Brain Injuries treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:23063952|REF_RGD_ID:10401061 11669518 EPO erythropoietin gene DOID:9001542 Albuminuria ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:urine,serum PMID:16921186|REF_RGD_ID:2313841 11669518 EPO erythropoietin gene DOID:9001553 Spinal Cord Compression ISO RGD:2559 D RGD:9068941 20200609 RGD protein:increased expression:neuron, endothelium, glia: PMID:15792521|REF_RGD_ID:11041719 11669518 EPO erythropoietin gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:20539178|REF_RGD_ID:10401059 11669518 EPO erythropoietin gene DOID:9001981 Weight Loss ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8260696 11669518 EPO erythropoietin gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:25769561|REF_RGD_ID:15090809 11669518 EPO erythropoietin gene DOID:9002165 Diabetic Nephropathies ISO RGD:735849 D RGD:9068941 20200609 RGD DNA:snp:promoter:-1125T>G(rs1617640)(human) PMID:18458324|REF_RGD_ID:2313838 11669518 EPO erythropoietin gene DOID:9002165 Diabetic Nephropathies ISO RGD:735849 D RGD:9068941 20200609 RGD Protein:decreased expression:serum PMID:19619913|REF_RGD_ID:2313832 11669518 EPO erythropoietin gene DOID:9002165 Diabetic Nephropathies ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; PMID:19356735|REF_RGD_ID:2313833 11669518 EPO erythropoietin gene DOID:9002331 Knee Osteoarthritis treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:25422652|REF_RGD_ID:10400892 11669518 EPO erythropoietin gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18382691 11669518 EPO erythropoietin gene DOID:9002955 Nerve Degeneration ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17010629|PMID:17166730|PMID:19497871|PMID:30837834 11669518 EPO erythropoietin gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2559 D RGD:9068941 20200609 RGD PMID:24034924|REF_RGD_ID:10400911 11669518 EPO erythropoietin gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:22156696|REF_RGD_ID:10401072 11669518 EPO erythropoietin gene DOID:9003871 Venous Thrombosis ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12670338|PMID:17547733 11669518 EPO erythropoietin gene DOID:9004086 AIDS Dementia Complex treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:20818790|REF_RGD_ID:10395393 11669518 EPO erythropoietin gene DOID:9004303 Tubulointerstitial Fibrosis treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:22678524|REF_RGD_ID:10401065 11669518 EPO erythropoietin gene DOID:9004547 Thyroid Neoplasms ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16699298 11669518 EPO erythropoietin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16699298 11669518 EPO erythropoietin gene DOID:9004702 Pregnancy Complications ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Pregnancy in Diabetes;protein:increased expression:amniotic fluid PMID:15502930|REF_RGD_ID:2313897 11669518 EPO erythropoietin gene DOID:9004713 Acute-Phase Reaction ISO RGD:2559 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:multiple PMID:19840250|REF_RGD_ID:10395370 11669518 EPO erythropoietin gene DOID:9004756 Brain Hypoxia treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:21116766|REF_RGD_ID:10400899 11669518 EPO erythropoietin gene DOID:9004756 Brain Hypoxia treatment ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Brain Injuries PMID:24344874|REF_RGD_ID:10401067 11669518 EPO erythropoietin gene DOID:9005141 Ventricular Tachycardia ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18156309 11669518 EPO erythropoietin gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:2559 D RGD:9068941 20200609 RGD PMID:12118093|REF_RGD_ID:11041669 11669518 EPO erythropoietin gene DOID:9005372 Inflammation ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21497595 11669518 EPO erythropoietin gene DOID:9005474 Experimental Sarcoma ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9743294 11669518 EPO erythropoietin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2559 D RGD:9068941 20200609 RGD mRNA:increased expression:Schwann cell: PMID:24673486|REF_RGD_ID:11041670 11669518 EPO erythropoietin gene DOID:9005749 Necrosis treatment ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Ischemia PMID:22924373|REF_RGD_ID:8655615 11669518 EPO erythropoietin gene DOID:9005930 Endotoxemia treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:23214195|REF_RGD_ID:10400903 11669518 EPO erythropoietin gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:19961832|PMID:25581532|REF_RGD_ID:10401077|REF_RGD_ID:11041698 11669518 EPO erythropoietin gene DOID:9006617 Fatigue ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18695134 11669518 EPO erythropoietin gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:2559 D RGD:9068941 20200609 RGD PMID:20361946|REF_RGD_ID:10400894 11669518 EPO erythropoietin gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30944280 11669518 EPO erythropoietin gene DOID:9006839 Anastomotic Leak treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:22149012|REF_RGD_ID:10400902 11669518 EPO erythropoietin gene DOID:9006924 Cardiogenic Shock ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19337937 11669518 EPO erythropoietin gene DOID:9007199 Paraneoplastic Syndromes ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10713657 11669518 EPO erythropoietin gene DOID:9007622 Acute Subdural Hematoma treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:23415790|REF_RGD_ID:10401075 11669518 EPO erythropoietin gene DOID:9009142 Diamond-Blackfan Anemia-Like ISO RGD:735849 D RGD:7240710 20190315 OMIM 11669518 EPO erythropoietin gene DOID:9009142 Diamond-Blackfan Anemia-Like ISO RGD:735849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia-like PMID:28283061 11669518 EPO erythropoietin gene DOID:9352 type 2 diabetes mellitus ISO RGD:735849 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:16936148|REF_RGD_ID:2313840 11669518 EPO erythropoietin gene DOID:9352 type 2 diabetes mellitus ISO RGD:735849 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16911620|REF_RGD_ID:2313842 11669518 EPO erythropoietin gene DOID:9477 pulmonary embolism ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12670338 11669518 EPO erythropoietin gene DOID:9743 diabetic neuropathy ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; PMID:19244253|REF_RGD_ID:2313834 11669518 EPO erythropoietin gene DOID:9993 hypoglycemia ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:plasma PMID:19211168|REF_RGD_ID:2313835 11669527 LOC100982221 olfactory receptor 10X1 gene DOID:1540 parathyroid carcinoma ISO RGD:1342523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11669527 LOC100982221 olfactory receptor 10X1 gene DOID:630 genetic disease ISO RGD:1342523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669527 LOC100982221 olfactory receptor 10X1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1342523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11669530 FBXO42 F-box protein 42 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1312431 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11669530 FBXO42 F-box protein 42 gene DOID:630 genetic disease ISO RGD:1312431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669544 CBLB Cbl proto-oncogene B gene DOID:2377 multiple sclerosis ISO RGD:733798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453840 11669544 CBLB Cbl proto-oncogene B gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:733798 D RGD:9068941 20220107 RGD PMID:29384143|REF_RGD_ID:150540336 11669544 CBLB Cbl proto-oncogene B gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:733798 D RGD:9068941 20210521 RGD DNA:SNPs: :rs2305035, rs9657904 (human) PMID:29707316|REF_RGD_ID:126925239 11669544 CBLB Cbl proto-oncogene B gene DOID:3908 lung non-small cell carcinoma no_association ISO RGD:733798 D RGD:9068941 20210521 RGD DNA:SNPs: :rs3772534 (human) PMID:29707316|REF_RGD_ID:126925239 11669544 CBLB Cbl proto-oncogene B gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:733798 D RGD:9068941 20220107 RGD DNA:SNP,haplotype: :rs2305035(human) PMID:26732495|REF_RGD_ID:150540334 11669544 CBLB Cbl proto-oncogene B gene DOID:5517 stomach carcinoma disease_progression ISO RGD:733798 D RGD:9068941 20220107 RGD PMID:28334634|REF_RGD_ID:150540337 11669544 CBLB Cbl proto-oncogene B gene DOID:5517 stomach carcinoma severity ISO RGD:733798 D RGD:9068941 20220107 RGD PMID:20038312|REF_RGD_ID:150540338 11669544 CBLB Cbl proto-oncogene B gene DOID:630 genetic disease ISO RGD:733798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669544 CBLB Cbl proto-oncogene B gene DOID:9000081 Lymphatic Metastasis ISO RGD:733798 D RGD:9068941 20220107 RGD associated with stomach carcinoma; PMID:20038312|REF_RGD_ID:150540338 11669544 CBLB Cbl proto-oncogene B gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:620535 D RGD:9068941 20210521 RGD mRNA:increased expression:spinal cord PMID:30021515|REF_RGD_ID:126925240 11669544 CBLB Cbl proto-oncogene B gene DOID:9002457 Experimental Arthritis ISO RGD:620535 D RGD:9068941 20200609 RGD PMID:16984225|REF_RGD_ID:2306289 11669544 CBLB Cbl proto-oncogene B gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:733798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453840 11669544 CBLB Cbl proto-oncogene B gene DOID:9007692 Insulin Resistance ISO RGD:733799 D RGD:9068941 20200609 RGD PMID:17601987|REF_RGD_ID:2314038 11669544 CBLB Cbl proto-oncogene B gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:733798 D RGD:9068941 20220107 RGD associated with lung non-small cell carcinoma; DNA:SNP,haplotype: :rs2305035(human) PMID:26732495|REF_RGD_ID:150540334 11669544 CBLB Cbl proto-oncogene B gene DOID:9009121 lung metastasis severity ISO RGD:733798 D RGD:9068941 20220107 RGD associated with stomach carcinoma; PMID:28334634|REF_RGD_ID:150540337 11669544 CBLB Cbl proto-oncogene B gene DOID:9744 type 1 diabetes mellitus ISO RGD:620535 D RGD:9068941 20200609 RGD PMID:12118252|REF_RGD_ID:625457 11669544 CBLB Cbl proto-oncogene B gene DOID:9744 type 1 diabetes mellitus ISO RGD:733798 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs3772534 (human) PMID:15629882|REF_RGD_ID:2314040 11669544 CBLB Cbl proto-oncogene B gene DOID:9744 type 1 diabetes mellitus ISO RGD:733798 D RGD:9068941 20200609 RGD DNA:missense mutations: :multiple (human) PMID:18201552|REF_RGD_ID:2314037 11669544 CBLB Cbl proto-oncogene B gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:733798 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs3772534 (human) PMID:17209142|REF_RGD_ID:2314039 11669544 CBLB Cbl proto-oncogene B gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:733798 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:14961073|REF_RGD_ID:2314041 11669544 CBLB Cbl proto-oncogene B gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:620535 D RGD:9068941 20200609 RGD DNA:nonsense mutation (rat) PMID:12118252|REF_RGD_ID:625457 11669583 ZNRD2 zinc ribbon domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1323499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11669583 ZNRD2 zinc ribbon domain containing 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1323499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11669583 ZNRD2 zinc ribbon domain containing 2 gene DOID:2746 glycogen storage disease V ISO RGD:1323499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11669583 ZNRD2 zinc ribbon domain containing 2 gene DOID:3070 high grade glioma ISO RGD:1323499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11669583 ZNRD2 zinc ribbon domain containing 2 gene DOID:630 genetic disease ISO RGD:1323499 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669583 ZNRD2 zinc ribbon domain containing 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1323499 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11669583 ZNRD2 zinc ribbon domain containing 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1323499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 11669591 CMTM1 CKLF like MARVEL transmembrane domain containing 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1316732 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11669591 CMTM1 CKLF like MARVEL transmembrane domain containing 1 gene DOID:0110255 cataract 5 multiple types ISO RGD:1316732 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 11669591 CMTM1 CKLF like MARVEL transmembrane domain containing 1 gene DOID:630 genetic disease ISO RGD:1316732 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669599 FOXK2 forkhead box K2 gene DOID:12336 male infertility ISO RGD:1313423 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32522586 11669599 FOXK2 forkhead box K2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1313423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868|PMID:28492532 11669599 FOXK2 forkhead box K2 gene DOID:630 genetic disease ISO RGD:1313423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669610 CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1349470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11669610 CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1349470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11669610 CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1349470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11669610 CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1349470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11669610 CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 gene DOID:630 genetic disease ISO RGD:1349470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669610 CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11669627 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:0050557 congenital muscular dystrophy ISO RGD:3160581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29260090|PMID:29382405 11669627 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:0050560 Walker-Warburg syndrome ISO RGD:3160581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22522420|PMID:22522421 11669627 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:0080000 muscular disease ISO RGD:3160581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22522421 11669627 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:0110295 autosomal recessive limb-girdle muscular dystrophy type 2U ISO RGD:3160581 D RGD:7240710 20180808 OMIM 11669627 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:0110295 autosomal recessive limb-girdle muscular dystrophy type 2U ISO RGD:3160581 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2U PMID:22522420|PMID:22522421|PMID:23217329|PMID:23288328|PMID:23390185|PMID:25326635|PMID:25741868|PMID:28492532|PMID:28973083|PMID:31909476 11669627 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency ISO RGD:3160581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency PMID:25741868 11669627 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:0111234 congenital muscular dystrophy-dystroglycanopathy A7 ISO RGD:3160581 D RGD:7240710 20180130 OMIM 11669627 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:0111234 congenital muscular dystrophy-dystroglycanopathy A7 ISO RGD:3160581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 PMID:10738921|PMID:16199547|PMID:17576681|PMID:18414213|PMID:22522420|PMID:22522421|PMID:23217329|PMID:2328832|PMID:23288328|PMID:23390185|PMID:24033266|PMID:24120487|PMID:2522420|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26404900|PMID:26467025|PMID:27234031|PMID:27363342|PMID:28492532|PMID:28688748|PMID:28973083|PMID:29260090|PMID:29382405|PMID:30564623|PMID:31127727|PMID:31395954|PMID:31909476|PMID:32502767|PMID:33199158|PMID:7604843|PMID:9492098|PMID:9536098 11669627 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:0112374 muscular dystrophy-dystroglycanopathy ISO RGD:3160581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy PMID:22522420|PMID:2522420|PMID:25741868|PMID:28492532 11669627 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:10908 hydrocephalus ISO RGD:3160581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22522421 11669627 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:3160581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11669627 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:9008296 Eye Abnormalities ISO RGD:3160581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22522421 11669642 PCDHB9 protocadherin beta 9 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1345982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11669642 PCDHB9 protocadherin beta 9 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1345982 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11669642 PCDHB9 protocadherin beta 9 gene DOID:630 genetic disease ISO RGD:1345982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669642 PCDHB9 protocadherin beta 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11669642 PCDHB9 protocadherin beta 9 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 11669642 PCDHB9 protocadherin beta 9 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345982 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11669647 SLAMF6 SLAM family member 6 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1345807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11669647 SLAMF6 SLAM family member 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1345807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11669647 SLAMF6 SLAM family member 6 gene DOID:630 genetic disease ISO RGD:1345807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669647 SLAMF6 SLAM family member 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11669666 LOC100992635 olfactory receptor 4C3 gene DOID:1059 intellectual disability ISO RGD:1342934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11669679 DRD5 dopamine receptor D5 gene DOID:0050840 cervical dystonia ISO RGD:731837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11459908 11669679 DRD5 dopamine receptor D5 gene DOID:0060040 pervasive developmental disorder ISO RGD:731837 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood PMID:21906006|REF_RGD_ID:5686422 11669679 DRD5 dopamine receptor D5 gene DOID:10652 Alzheimer's disease ISO RGD:731837 D RGD:9068941 20200609 RGD protein:increased expression:frontal cortex, neuron PMID:17182012|REF_RGD_ID:5686412 11669679 DRD5 dopamine receptor D5 gene DOID:10763 hypertension ISO RGD:10489 D RGD:9068941 20200609 RGD PMID:12486173|REF_RGD_ID:1580887 11669679 DRD5 dopamine receptor D5 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:731837 D RGD:9068941 20230511 CTD CTD Direct Evidence: marker/mechanism PMID:14699430|PMID:14732906 11669679 DRD5 dopamine receptor D5 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:731837 D RGD:9068941 20230511 RGD PMID:14699430|REF_RGD_ID:1358609 11669679 DRD5 dopamine receptor D5 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:731837 D RGD:9068941 20230511 RGD DNA:repeat PMID:11032390|REF_RGD_ID:5686417 11669679 DRD5 dopamine receptor D5 gene DOID:1094 attention deficit hyperactivity disorder no_association ISO RGD:731837 D RGD:9068941 20200609 RGD PMID:15389755|REF_RGD_ID:5686411 11669679 DRD5 dopamine receptor D5 gene DOID:1094 attention deficit hyperactivity disorder susceptibility ISO RGD:731837 D RGD:7240710 20230505 OMIM 11669679 DRD5 dopamine receptor D5 gene DOID:12858 Huntington's disease ISO RGD:68472 D RGD:9068941 20200609 RGD PMID:12111832|REF_RGD_ID:5686414 11669679 DRD5 dopamine receptor D5 gene DOID:14330 Parkinson's disease ISO RGD:731837 D RGD:9068941 20200609 RGD protein:increased expression:blood, lymphocyte PMID:10495037|REF_RGD_ID:5686418 11669679 DRD5 dopamine receptor D5 gene DOID:1596 depressive disorder ISO RGD:731837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 11669679 DRD5 dopamine receptor D5 gene DOID:2468 psychotic disorder ISO RGD:731837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 11669679 DRD5 dopamine receptor D5 gene DOID:3312 bipolar disorder ISO RGD:731837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 11669679 DRD5 dopamine receptor D5 gene DOID:529 blepharospasm ISO RGD:731837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11781417 11669679 DRD5 dopamine receptor D5 gene DOID:529 blepharospasm ISO RGD:731837 D RGD:9068941 20200609 RGD DNA:repeat PMID:11781417|REF_RGD_ID:734899 11669679 DRD5 dopamine receptor D5 gene DOID:630 genetic disease ISO RGD:731837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669679 DRD5 dopamine receptor D5 gene DOID:9002584 Benign Essential Blepharospasm ISO RGD:731837 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 11669679 DRD5 dopamine receptor D5 gene DOID:9002584 Benign Essential Blepharospasm susceptibility ISO RGD:731837 D RGD:7240710 20230505 OMIM 11669701 LOC103785307 pregnancy-specific beta-1-glycoprotein 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1348613 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11669701 LOC103785307 pregnancy-specific beta-1-glycoprotein 4 gene DOID:5419 schizophrenia ISO RGD:1348613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11669701 LOC103785307 pregnancy-specific beta-1-glycoprotein 4 gene DOID:630 genetic disease ISO RGD:1348613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669730 MORN2 MORN repeat containing 2 gene DOID:0080690 RASopathy ISO RGD:2303892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11669730 MORN2 MORN repeat containing 2 gene DOID:3883 Lynch syndrome ISO RGD:2303892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11669730 MORN2 MORN repeat containing 2 gene DOID:630 genetic disease ISO RGD:2303892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669730 MORN2 MORN repeat containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2303892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11669749 TNRC18 trinucleotide repeat containing 18 gene DOID:11372 megacolon ISO RGD:2291816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11669749 TNRC18 trinucleotide repeat containing 18 gene DOID:630 genetic disease ISO RGD:2291816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11669781 TEAD2 TEA domain transcription factor 2 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1344942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11669781 TEAD2 TEA domain transcription factor 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1344942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11669781 TEAD2 TEA domain transcription factor 2 gene DOID:630 genetic disease ISO RGD:1344942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669798 SH3RF3 SH3 domain containing ring finger 3 gene DOID:630 genetic disease ISO RGD:1344960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669798 SH3RF3 SH3 domain containing ring finger 3 gene DOID:670 amphetamine abuse ISO RGD:1344960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11669810 CHMP7 charged multivesicular body protein 7 gene DOID:630 genetic disease ISO RGD:1602310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669810 CHMP7 charged multivesicular body protein 7 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1602310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 11669824 C4H4orf17 chromosome 4 C4orf17 homolog gene DOID:630 genetic disease ISO RGD:1352720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669837 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1354110 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11669837 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1354110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11669837 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:0080690 RASopathy ISO RGD:1354110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11669837 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1354110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 11669837 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:0110651 long QT syndrome 10 ISO RGD:1354110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11669837 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1354110 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11669837 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1354110 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11669837 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1354110 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11669837 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1354110 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11669837 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1354110 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868 11669837 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:3070 high grade glioma ISO RGD:1354110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578367 11669837 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:630 genetic disease ISO RGD:1354110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669837 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1354110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11669837 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:9007661 Dwarfism ISO RGD:1354110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11669924 TOM1L2 target of myb1 like 2 membrane trafficking protein gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1315512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 11669924 TOM1L2 target of myb1 like 2 membrane trafficking protein gene DOID:0050777 Joubert syndrome ISO RGD:1315512 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11669924 TOM1L2 target of myb1 like 2 membrane trafficking protein gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1315512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis syndrome PMID:25087610 11669924 TOM1L2 target of myb1 like 2 membrane trafficking protein gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1315512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 11669924 TOM1L2 target of myb1 like 2 membrane trafficking protein gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1315512 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 11669924 TOM1L2 target of myb1 like 2 membrane trafficking protein gene DOID:12849 autistic disorder ISO RGD:1315512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11669924 TOM1L2 target of myb1 like 2 membrane trafficking protein gene DOID:630 genetic disease ISO RGD:1315512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669954 NCAM2 neural cell adhesion molecule 2 gene DOID:10652 Alzheimer's disease ISO RGD:1342930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 11669954 NCAM2 neural cell adhesion molecule 2 gene DOID:13938 amenorrhea ISO RGD:1342930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11669954 NCAM2 neural cell adhesion molecule 2 gene DOID:630 genetic disease ISO RGD:1342930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669954 NCAM2 neural cell adhesion molecule 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11669981 SYT7 synaptotagmin 7 gene DOID:0050773 paraganglioma ISO RGD:736086 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:22241717|PMID:26096992|PMID:28492532 11669981 SYT7 synaptotagmin 7 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:736086 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11669981 SYT7 synaptotagmin 7 gene DOID:1059 intellectual disability ISO RGD:736086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11669981 SYT7 synaptotagmin 7 gene DOID:2661 myoepithelioma ISO RGD:736086 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11669981 SYT7 synaptotagmin 7 gene DOID:630 genetic disease ISO RGD:736086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11669981 SYT7 synaptotagmin 7 gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:736086 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:22241717|PMID:26096992|PMID:28492532 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0050861 colorectal adenocarcinoma ISO RGD:1323005 D RGD:9068941 20221020 RGD mRNA:decreased expression:colorectum (human) PMID:22966016|REF_RGD_ID:155598682 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0060058 lymphoma susceptibility ISO RGD:1622854 D RGD:9068941 20200609 RGD PMID:11238917|REF_RGD_ID:11567233 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0060240 UV-sensitive syndrome ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26972010 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080199 colorectal carcinoma treatment ISO RGD:1323005 D RGD:9068941 20221006 RGD human cell line in a mouse model PMID:28665687|REF_RGD_ID:155260341 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080868 primary ovarian insufficiency 11 ISO RGD:1323005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 11 PMID:10196384|PMID:10767341|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:21143350|PMID:21228398|PMID:22661500|PMID:22904069|PMID:23311583|PMID:24154677|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:26218421|PMID:27004399|PMID:27186691|PMID:27356891|PMID:28492532|PMID:29572252|PMID:30111349|PMID:9443879 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080868 primary ovarian insufficiency 11 susceptibility ISO RGD:1323005 D RGD:7240710 20230517 OMIM 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1323005 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:28492532 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080908 Cockayne syndrome B ISO RGD:1323005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cockayne Syndrome, Type II | ClinVar Annotator: match by term: Cockayne syndrome B PMID:10196384|PMID:10767341|PMID:11809892|PMID:1339317|PMID:15486090|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18446857|PMID:18628313|PMID:18784753|PMID:19894250|PMID:20122405|PMID:20456449|PMID:21143350|PMID:21228398|PMID:22466610|PMID:22483866|PMID:22661500|PMID:22904069|PMID:23311583|PMID:23422418|PMID:23428416|PMID:24033266|PMID:24154677|PMID:25136123|PMID:25251875|PMID:25326635|PMID:25741868|PMID:25820262|PMID:26206375|PMID:27004399|PMID:27356891|PMID:28170084|PMID:28440418|PMID:28492532|PMID:29203878|PMID:29572252|PMID:29915382|PMID:30111349|PMID:30842647|PMID:31130284|PMID:31501894|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32557569|PMID:32853555|PMID:32860008|PMID:7063265|PMID:7264357|PMID:887325|PMID:9150142|PMID:9443879|PMID:9536098|PMID:9777763 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080908 Cockayne syndrome B susceptibility ISO RGD:1323005 D RGD:7240710 20230517 OMIM 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080910 cerebrooculofacioskeletal syndrome ISO RGD:1323005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COFS syndrome | ClinVar Annotator: match by term: Cerebrooculofacioskeletal Syndrome PMID:18414213|PMID:25741868|PMID:28492532 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080911 cerebrooculofacioskeletal syndrome 1 ISO RGD:1323005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CEREBROOCULOFACIOSKELETAL SYNDROME 1 | ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1 | ClinVar Annotator: match by term: PENA-SHOKEIR SYNDROME, TYPE II PMID:10196384|PMID:10739753|PMID:10767341|PMID:11809892|PMID:1339317|PMID:17576681|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:20122405|PMID:20456449|PMID:21143350|PMID:21228398|PMID:22661500|PMID:22904069|PMID:23311583|PMID:23422418|PMID:23428416|PMID:24033266|PMID:24154677|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:26206375|PMID:27004399|PMID:27356891|PMID:28170084|PMID:28440418|PMID:28492532|PMID:29203878|PMID:29572252|PMID:29915382|PMID:30111349|PMID:31130284|PMID:31501894|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32557569|PMID:32853555|PMID:7063265|PMID:887325|PMID:9150142|PMID:9443879|PMID:9536098 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080911 cerebrooculofacioskeletal syndrome 1 susceptibility ISO RGD:1323005 D RGD:7240710 20230517 OMIM 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18628313 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0110028 age related macular degeneration 5 ISO RGD:1323005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 5 PMID:10196384|PMID:10767341|PMID:16754848|PMID:17576681|PMID:17854076|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:21143350|PMID:21228398|PMID:22661500|PMID:22904069|PMID:23311583|PMID:23422418|PMID:24154677|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28492532|PMID:29572252|PMID:30111349|PMID:9443879|PMID:9536098 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0110028 age related macular degeneration 5 susceptibility ISO RGD:1323005 D RGD:7240710 20230517 OMIM 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0112158 De Sanctis-Cacchione syndrome ISO RGD:1323005 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME PMID:10196384|PMID:10767341|PMID:11809892|PMID:1339317|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:20122405|PMID:20456449|PMID:21143350|PMID:21228398|PMID:22661500|PMID:22904069|PMID:23311583|PMID:23422418|PMID:23428416|PMID:24033266|PMID:24154677|PMID:25136123|PMID:25326635|PMID:25356239|PMID:25463447|PMID:25677497|PMID:25741868|PMID:25820262|PMID:26206375|PMID:26218421|PMID:26620705|PMID:27004399|PMID:27186691|PMID:27356891|PMID:28170084|PMID:28440418|PMID:28492532|PMID:29203878|PMID:29572252|PMID:29915382|PMID:30111349|PMID:31130284|PMID:31501894|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32557569|PMID:32853555|PMID:34005834|PMID:7063265|PMID:887325|PMID:9150142|PMID:9443879|PMID:9536098 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0112158 De Sanctis-Cacchione syndrome susceptibility ISO RGD:1323005 D RGD:7240710 20230517 OMIM 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:10003 sensorineural hearing loss ISO RGD:1622854 D RGD:9068941 20200609 RGD PMID:25762674|REF_RGD_ID:11567237 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:10534 stomach cancer exacerbates ISO RGD:1323005 D RGD:9068941 20221006 RGD DNA:SNP:enhancer: (rs1917799) (human) PMID:27340861|REF_RGD_ID:155260339 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:10534 stomach cancer exacerbates ISO RGD:1323005 D RGD:9068941 20221006 RGD mRNA:increased expression:stomach (human) PMID:30417012|REF_RGD_ID:155260342 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:10629 microphthalmia ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10739753 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:10907 microcephaly ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10739753|PMID:18628313 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:11372 megacolon ISO RGD:1323005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer ISO RGD:1323005 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: LUNG CANCER, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic PMID:10767341|PMID:16754848|PMID:17854076|PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:22661500|PMID:22904069|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28492532|PMID:29572252|PMID:30111349|PMID:9443879 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer disease_progression ISO RGD:1323005 D RGD:9068941 20200609 RGD DNA:SNPs: :p.G399D, p.Q1413R (human) PMID:17855454|REF_RGD_ID:11567235 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer no_association ISO RGD:1323005 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:18789574|REF_RGD_ID:11567231 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer susceptibility ISO RGD:1323005 D RGD:9068941 20200609 RGD DNA:point mutation:promoter::c.-6530C>G (rs3793784) (human) PMID:17854076|REF_RGD_ID:11561791 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer susceptibility ISO RGD:1323005 D RGD:9068941 20221006 RGD mRNA:decreased expression:lung (human) PMID:10910954|REF_RGD_ID:155260338 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:14184 polyneuropathy due to drug treatment ISO RGD:1323005 D RGD:9068941 20221006 RGD associated with colorectal cancer;DNA:missense mutations:CDS:p.D425A, p.G446D, p.S797C (rs4253046, rs4253047, rs146043988) (human) PMID:35135151|REF_RGD_ID:155260345 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:14261 fragile X syndrome ISO RGD:1622854 D RGD:9068941 20200609 RGD PMID:24352881|REF_RGD_ID:10401097 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1749 squamous cell carcinoma severity ISO RGD:1622854 D RGD:9068941 20200609 RGD associated with Cockayne Syndrome PMID:9150142|REF_RGD_ID:10401099 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:224 transient cerebral ischemia ISO RGD:1311509 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex PMID:10437118|REF_RGD_ID:10401104 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:2596 larynx cancer susceptibility ISO RGD:1323005 D RGD:9068941 20221006 RGD DNA:missense mutation:CDS:p.R1230P (human) PMID:19444904|REF_RGD_ID:155260337 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:2962 Cockayne syndrome ISO RGD:1323005 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cockayne syndrome | ClinVar Annotator: match by term: Progeroid nanism PMID:16199547|PMID:18414213|PMID:18628313|PMID:19894250|PMID:20122405|PMID:21228398|PMID:25326635|PMID:25741868|PMID:25820262|PMID:26206375|PMID:27004399|PMID:27356891|PMID:28492532|PMID:29203878|PMID:29572252|PMID:29915382|PMID:29955172|PMID:30111349|PMID:31130284|PMID:31501894|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32557569|PMID:32853555|PMID:9443879 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3355 fibrosarcoma susceptibility ISO RGD:1622854 D RGD:9068941 20200609 RGD PMID:11238917|REF_RGD_ID:11567233 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3525 middle cerebral artery infarction ISO RGD:1311509 D RGD:9068941 20200609 RGD PMID:9974119|REF_RGD_ID:10401103 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3905 lung carcinoma ISO RGD:1323005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:10196384|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:21143350|PMID:23311583|PMID:24154677|PMID:25741868|PMID:28492532|PMID:29572252|PMID:9443879 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3907 lung squamous cell carcinoma ISO RGD:1323005 D RGD:9068941 20221006 RGD mRNA, protein:increased expression:lung (human) PMID:31615563|REF_RGD_ID:155260344 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1323005 D RGD:9068941 20221006 RGD DNA:SNP:intron: (rs4253002) (human) PMID:28924235|REF_RGD_ID:153323316 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3910 lung adenocarcinoma ISO RGD:1323005 D RGD:9068941 20221006 RGD mRNA, protein:increased expression:lung (human) PMID:31615563|REF_RGD_ID:155260344 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:4448 macular degeneration ISO RGD:1323005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:18414213|PMID:25741868|PMID:28492532 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:4448 macular degeneration onset ISO RGD:1323005 D RGD:9068941 20200609 RGD PMID:21072178|REF_RGD_ID:10401096 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:5419 schizophrenia ISO RGD:1323005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1323005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:630 genetic disease ISO RGD:1323005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:18414213|PMID:18628313|PMID:19894250|PMID:20456449|PMID:23311583|PMID:23428416|PMID:25251875|PMID:25741868|PMID:27004399|PMID:28440418|PMID:28492532|PMID:29572252|PMID:7063265|PMID:9443879 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:83 cataract ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18628313 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9002350 Hereditary Hemorrhagic Telangiectasia, Type 1 ISO RGD:1323005 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 PMID:25741868|PMID:28492532 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9002644 Premature Aging ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25440059 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:1323005 D RGD:9068941 20221006 RGD associated with lung non-small cell carcinoma;DNA:SNP:intron: (rs4253212) (human) PMID:28924235|REF_RGD_ID:153323316 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9004538 Hearing Loss ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25440059 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9005172 Lung Neoplasms ISO RGD:1323005 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:17854076 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9005172 Lung Neoplasms susceptibility ISO RGD:1323005 D RGD:7240710 20230517 OMIM 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9006257 Growth Disorders ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18628313 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9006274 UV-Sensitive Syndrome 1 ISO RGD:1323005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: UV-SENSITIVE SYNDROME 1 | ClinVar Annotator: match by term: UV-sensitive syndrome 1 PMID:10196384|PMID:10767341|PMID:15486090|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:21143350|PMID:21228398|PMID:22466610|PMID:22483866|PMID:22661500|PMID:22904069|PMID:23311583|PMID:24154677|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28492532|PMID:29572252|PMID:30111349|PMID:7264357|PMID:9443879|PMID:9777763 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9006274 UV-Sensitive Syndrome 1 susceptibility ISO RGD:1323005 D RGD:7240710 20230517 OMIM 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9008514 Psychomotor Disorders ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18628313 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18628313 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9256 colorectal cancer ISO RGD:1323005 D RGD:9068941 20221006 RGD DNA:SNP:exon: (rs2228526) (human) PMID:29151331|REF_RGD_ID:155260348 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9256 colorectal cancer ISO RGD:1323005 D RGD:9068941 20221006 RGD mRNA:increased expression:colorectum (human) PMID:16951227|REF_RGD_ID:155260343 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9256 colorectal cancer susceptibility ISO RGD:1323005 D RGD:9068941 20221006 RGD DNA:missense mutation:CDS:p.R1213G (human) PMID:17119055|REF_RGD_ID:155260340 11670022 TNFSF13 TNF superfamily member 13 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1314162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11670022 TNFSF13 TNF superfamily member 13 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1314162 D RGD:9068941 20200609 RGD PMID:15488762|REF_RGD_ID:1549466 11670022 TNFSF13 TNF superfamily member 13 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1314162 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11670022 TNFSF13 TNF superfamily member 13 gene DOID:12177 common variable immunodeficiency ISO RGD:1314162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11670022 TNFSF13 TNF superfamily member 13 gene DOID:2729 dyskeratosis congenita ISO RGD:1314162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11670022 TNFSF13 TNF superfamily member 13 gene DOID:2986 IgA glomerulonephritis ISO RGD:1314162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22197929 11670022 TNFSF13 TNF superfamily member 13 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1314162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11670022 TNFSF13 TNF superfamily member 13 gene DOID:630 genetic disease ISO RGD:1314162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670022 TNFSF13 TNF superfamily member 13 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1314162 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15488762|REF_RGD_ID:1549466 11670022 TNFSF13 TNF superfamily member 13 gene DOID:9003281 Spontaneous Abortions ISO RGD:1314162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11670022 TNFSF13 TNF superfamily member 13 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1314162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18423122 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:0060074 ductal carcinoma in situ ISO RGD:730833 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:12888825|REF_RGD_ID:2298909 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:1824 status epilepticus ISO RGD:621087 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:14614901|REF_RGD_ID:1625688 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:1936 atherosclerosis ISO RGD:730833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19330073 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:3008 invasive ductal carcinoma ISO RGD:730833 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:12888825|REF_RGD_ID:2298909 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:409 liver disease ISO RGD:730833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:4947 cholangiocarcinoma severity ISO RGD:730833 D RGD:9068941 20220128 RGD protein:decreased expression:bile duct (human) PMID:26485275|REF_RGD_ID:11250478 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:730833 D RGD:9068941 20200609 RGD mRNA:decreased expression:uterine cervix PMID:16878360|REF_RGD_ID:2298904 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:630 genetic disease ISO RGD:730833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:684 hepatocellular carcinoma ISO RGD:730833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16831601 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9000081 Lymphatic Metastasis ISO RGD:730833 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:18097573|REF_RGD_ID:2298901 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9000099 Experimental Colitis treatment ISO RGD:621087 D RGD:9068941 20220623 RGD PMID:29572553|REF_RGD_ID:152995414 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9000784 Fibrosis ISO RGD:621087 D RGD:9068941 20200609 RGD PMID:16012948|REF_RGD_ID:1625686 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9002457 Experimental Arthritis ISO RGD:621087 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell PMID:16507131|REF_RGD_ID:1625684 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9004009 Reperfusion Injury ISO RGD:621087 D RGD:9068941 20200609 RGD associated with Brain Ischemia;mRNA, protein:increased expression:cerebral cortex PMID:12437578|REF_RGD_ID:632385 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9004484 Sepsis ISO RGD:621087 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11312157|REF_RGD_ID:634751 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9004484 Sepsis ISO RGD:621087 D RGD:9068941 20200609 RGD protein:increased expression:gastrocnemius PMID:12644450|REF_RGD_ID:2298924 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730834 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:18381452|REF_RGD_ID:2298899 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621087 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina PMID:18356406|REF_RGD_ID:2298911 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9005643 Experimental Diabetes Mellitus susceptibility ISO RGD:730834 D RGD:9068941 20200609 RGD PMID:17562326|REF_RGD_ID:2313787 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9005930 Endotoxemia ISO RGD:621087 D RGD:9068941 20200609 RGD PMID:12217886|REF_RGD_ID:625688 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9005930 Endotoxemia ISO RGD:730834 D RGD:9068941 20200609 RGD mRNA:increased expression:liver, skeletal muscle PMID:15169905|REF_RGD_ID:2298923 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9006599 Hypertriglyceridemia ISO RGD:730834 D RGD:9068941 20200609 RGD associated with Obesity PMID:15240880|REF_RGD_ID:1625677 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:730833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9007692 Insulin Resistance ISO RGD:730834 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:15240880|REF_RGD_ID:1625677 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:730834 D RGD:9068941 20200609 RGD associated with Obesity PMID:17295835|REF_RGD_ID:2313789 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9007715 Endometrial Neoplasms ISO RGD:730833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16804899 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9007730 Burns ISO RGD:621087 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hepatocyte PMID:12392283|REF_RGD_ID:730264 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9008114 Helicobacter Infections ISO RGD:621087 D RGD:9068941 20200609 RGD mRNA, protein:increased expression PMID:17405912|REF_RGD_ID:1625683 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730833 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:15331532|REF_RGD_ID:2313790 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730834 D RGD:9068941 20200609 RGD PMID:17513737|REF_RGD_ID:2313788 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:621087 D RGD:9068941 20200609 RGD PMID:29110587|REF_RGD_ID:13506806 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9452 fatty liver disease ISO RGD:730834 D RGD:9068941 20200609 RGD associated with Obesity PMID:15240880|REF_RGD_ID:1625677 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9970 obesity ISO RGD:621087 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:white fat PMID:11027633|REF_RGD_ID:2298920 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9970 obesity ISO RGD:730833 D RGD:9068941 20200609 RGD mRNA:altered expression:skeletal muscle, subcutaneous adipose tissue PMID:15331532|REF_RGD_ID:2313790 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9970 obesity ISO RGD:730833 D RGD:9068941 20200609 RGD mRNA:decreased expression:subcutaneous adipose tissue PMID:16920065|REF_RGD_ID:1625676 11670052 ZNF597 zinc finger protein 597 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1351139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11670052 ZNF597 zinc finger protein 597 gene DOID:1826 epilepsy ISO RGD:1351139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11670052 ZNF597 zinc finger protein 597 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1351139 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11670052 ZNF597 zinc finger protein 597 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1351139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 11670052 ZNF597 zinc finger protein 597 gene DOID:630 genetic disease ISO RGD:1351139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670063 ZNF483 zinc finger protein 483 gene DOID:630 genetic disease ISO RGD:1604223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670110 AFTPH aftiphilin gene DOID:630 genetic disease ISO RGD:1606558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670131 RPL22L1 ribosomal protein L22 like 1 gene DOID:1062 Fanconi syndrome ISO RGD:1602286 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 11670131 RPL22L1 ribosomal protein L22 like 1 gene DOID:630 genetic disease ISO RGD:1602286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670143 KCND3 potassium voltage-gated channel subfamily D member 3 gene DOID:0050451 Brugada syndrome ISO RGD:68576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 11670143 KCND3 potassium voltage-gated channel subfamily D member 3 gene DOID:0050970 spinocerebellar ataxia type 19/22 ISO RGD:68576 D RGD:7240710 20180130 OMIM 11670143 KCND3 potassium voltage-gated channel subfamily D member 3 gene DOID:0050970 spinocerebellar ataxia type 19/22 ISO RGD:68576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22 PMID:11284128|PMID:17576681|PMID:17581856|PMID:21349352|PMID:21640846|PMID:21703448|PMID:22284586|PMID:22336521|PMID:22402074|PMID:22457051|PMID:22584458|PMID:22840528|PMID:23280837|PMID:23280838|PMID:23400760|PMID:23414114|PMID:23834499|PMID:23838598|PMID:24762397|PMID:25175087|PMID:25214526|PMID:25401298|PMID:25410959|PMID:25741868|PMID:25741869|PMID:26016905|PMID:26220970|PMID:26467025|PMID:26633542|PMID:28074886|PMID:28166811|PMID:28341588|PMID:28362824|PMID:28444220|PMID:28492532|PMID:29053796|PMID:29062094|PMID:29482223|PMID:29527639|PMID:29953624|PMID:30662450|PMID:30776697|PMID:30847666|PMID:31017293|PMID:31130284|PMID:31195250|PMID:31293010|PMID:31695177|PMID:31737537|PMID:32709127|PMID:32818936|PMID:34087979|PMID:34361012|PMID:9536098 11670143 KCND3 potassium voltage-gated channel subfamily D member 3 gene DOID:0060224 atrial fibrillation ISO RGD:68576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28416822|PMID:29892015|PMID:30061737 11670143 KCND3 potassium voltage-gated channel subfamily D member 3 gene DOID:0110226 Brugada syndrome 9 ISO RGD:68576 D RGD:7240710 20180130 OMIM 11670143 KCND3 potassium voltage-gated channel subfamily D member 3 gene DOID:0110226 Brugada syndrome 9 ISO RGD:68576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome 9 PMID:21349352|PMID:21640846|PMID:21703448|PMID:22284586|PMID:22336521|PMID:22457051|PMID:22840528|PMID:23400760|PMID:23414114|PMID:24762397|PMID:25214526|PMID:25741868|PMID:26016905|PMID:26467025|PMID:28492532|PMID:29053796|PMID:30662450|PMID:30776697|PMID:31017293|PMID:31130284|PMID:31737537|PMID:32709127 11670143 KCND3 potassium voltage-gated channel subfamily D member 3 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:68576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 11670143 KCND3 potassium voltage-gated channel subfamily D member 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:68576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 11670143 KCND3 potassium voltage-gated channel subfamily D member 3 gene DOID:1826 epilepsy ISO RGD:68576 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11670143 KCND3 potassium voltage-gated channel subfamily D member 3 gene DOID:630 genetic disease ISO RGD:68576 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22402074|PMID:25741868|PMID:26467025|PMID:26633542|PMID:28341588|PMID:28444220|PMID:28492532|PMID:30847666|PMID:31195250|PMID:31695177 11670143 KCND3 potassium voltage-gated channel subfamily D member 3 gene DOID:9003936 Cardiomegaly ISO RGD:68577 D RGD:9068941 20200609 RGD protein:decreased expression:heart: PMID:23747723|REF_RGD_ID:8847123 11670160 GFOD1 Gfo/Idh/MocA-like oxidoreductase domain containing 1 gene DOID:3393 coronary artery disease ISO RGD:1323002 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 11670160 GFOD1 Gfo/Idh/MocA-like oxidoreductase domain containing 1 gene DOID:630 genetic disease ISO RGD:1323002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670174 NDP norrin cystine knot growth factor NDP gene DOID:0050535 exudative vitreoretinopathy ISO RGD:1558298 D RGD:9068941 20220825 MouseDO OMIM:133780 | OMIM:305390 | OMIM:601813 | OMIM:605750 | OMIM:613310 11670174 NDP norrin cystine knot growth factor NDP gene DOID:0060282 persistent hyperplastic primary vitreous ISO RGD:1343189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous PMID:25741868 11670174 NDP norrin cystine knot growth factor NDP gene DOID:0060693 Brunner syndrome ISO RGD:1343189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brunner syndrome PMID:17296899|PMID:20340138|PMID:22382802|PMID:28492532|PMID:30452590|PMID:8211186 11670174 NDP norrin cystine knot growth factor NDP gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11670174 NDP norrin cystine knot growth factor NDP gene DOID:0060844 Norrie disease ISO RGD:1343189 D RGD:7240710 20180130 OMIM 11670174 NDP norrin cystine knot growth factor NDP gene DOID:0060844 Norrie disease ISO RGD:1343189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrophia bulborum hereditaria PMID:10484772|PMID:10773814|PMID:11748312|PMID:1303235|PMID:1303264|PMID:1307245|PMID:14635119|PMID:15776010|PMID:16970763|PMID:17296899|PMID:17334993|PMID:20340138|PMID:20385941|PMID:22563645|PMID:22786811|PMID:23141577|PMID:25711638|PMID:25741868|PMID:26547627|PMID:28492532|PMID:30097784|PMID:30311386|PMID:30452590|PMID:31030433|PMID:31456290|PMID:7627181|PMID:7814011|PMID:8069314|PMID:8240113|PMID:8268931|PMID:8790105|PMID:8990009|PMID:9143918|PMID:9382152 11670174 NDP norrin cystine knot growth factor NDP gene DOID:0111413 X-linked exudative vitreoretinopathy 2 ISO RGD:1343189 D RGD:7240710 20180214 OMIM 11670174 NDP norrin cystine knot growth factor NDP gene DOID:0111413 X-linked exudative vitreoretinopathy 2 ISO RGD:1343189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 2, X-linked | ClinVar Annotator: match by term: Exudative vitreoretinopathy, X-linked PMID:17050281|PMID:17296899|PMID:20491809|PMID:25741868|PMID:26158506|PMID:28492532|PMID:7558002|PMID:7795608|PMID:8252044|PMID:8457509|PMID:8535448|PMID:8832723|PMID:8946107|PMID:9143917|PMID:9382152|PMID:95062|PMID:9618247 11670174 NDP norrin cystine knot growth factor NDP gene DOID:12849 autistic disorder ISO RGD:1343189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11670174 NDP norrin cystine knot growth factor NDP gene DOID:13025 retinopathy of prematurity severity ISO RGD:1343189 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:p.R121W, p.L108P (human) PMID:9152134|REF_RGD_ID:8694210 11670174 NDP norrin cystine knot growth factor NDP gene DOID:3612 retinitis ISO RGD:1343189 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29654250 11670174 NDP norrin cystine knot growth factor NDP gene DOID:4449 macular retinal edema ISO RGD:1343189 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29654250 11670174 NDP norrin cystine knot growth factor NDP gene DOID:5327 retinal detachment ISO RGD:1343189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal detachment PMID:25741868 11670174 NDP norrin cystine knot growth factor NDP gene DOID:630 genetic disease ISO RGD:1343189 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20340138|PMID:28492532 11670174 NDP norrin cystine knot growth factor NDP gene DOID:7765 Coats disease ISO RGD:1343189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative retinopathy PMID:26908610 11670174 NDP norrin cystine knot growth factor NDP gene DOID:9002525 Hereditary Eye Diseases ISO RGD:1343189 D RGD:9068941 20200609 RGD Norrie Disease, OMIM:310600, DNA:point mutations:exon PMID:1303235|REF_RGD_ID:1600222 11670174 NDP norrin cystine knot growth factor NDP gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:1558298 D RGD:9068941 20200609 RGD PMID:20053900|REF_RGD_ID:8694208 11670174 NDP norrin cystine knot growth factor NDP gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11670174 NDP norrin cystine knot growth factor NDP gene DOID:9004538 Hearing Loss ISO RGD:1343189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:14635119|PMID:25741868|PMID:28492532|PMID:30311386|PMID:31456290 11670174 NDP norrin cystine knot growth factor NDP gene DOID:9007748 Retinal Neovascularization ISO RGD:1343189 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29654250 11670174 NDP norrin cystine knot growth factor NDP gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1343189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:22197486|PMID:23076834|PMID:23354975|PMID:23913813|PMID:25972376|PMID:28492532 11670181 SNCA synuclein alpha gene DOID:0050890 synucleinopathy ISO RGD:733186 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34332006 11670181 SNCA synuclein alpha gene DOID:0060367 Parkinson's disease 1 ISO RGD:733186 D RGD:7240710 20180130 OMIM 11670181 SNCA synuclein alpha gene DOID:0060367 Parkinson's disease 1 ISO RGD:733186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 1 PMID:10417297|PMID:11261505|PMID:11376188|PMID:12062037|PMID:14593171|PMID:14755720|PMID:15144854|PMID:15451224|PMID:15451225|PMID:16358335|PMID:17251522|PMID:17489854|PMID:17625105|PMID:18195271|PMID:18704525|PMID:18852445|PMID:18852448|PMID:18852449|PMID:19632874|PMID:20340137|PMID:20437567|PMID:21252228|PMID:21559878|PMID:23404372|PMID:23427326|PMID:23457019|PMID:23526723|PMID:24047453|PMID:24158904|PMID:24158909|PMID:24313877|PMID:24315198|PMID:24728187|PMID:24746362|PMID:24936070|PMID:24984882|PMID:25268550|PMID:25393002|PMID:25741868|PMID:25892596|PMID:26306801|PMID:26341711|PMID:26799529|PMID:26858591|PMID:27066564|PMID:27393118|PMID:28492532|PMID:29398121|PMID:30528390|PMID:31267130|PMID:33617693|PMID:9197268|PMID:9462735|PMID:9499430|PMID:9506559|PMID:9827625 11670181 SNCA synuclein alpha gene DOID:0060895 Parkinson's disease 4 ISO RGD:733186 D RGD:7240710 20180130 OMIM 11670181 SNCA synuclein alpha gene DOID:0060895 Parkinson's disease 4 ISO RGD:733186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 4 PMID:11376188|PMID:21559878|PMID:25741868|PMID:26858591|PMID:28492532|PMID:33617693 11670181 SNCA synuclein alpha gene DOID:0080855 Parkinsonism ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20464527|PMID:22319455|PMID:23046578|PMID:23295396|PMID:26075822|PMID:26558463|PMID:26687234|PMID:27026137|PMID:27324791 11670181 SNCA synuclein alpha gene DOID:0080855 Parkinsonism ISO RGD:735748 D RGD:9068941 20200609 RGD PMID:15147505|REF_RGD_ID:6478802 11670181 SNCA synuclein alpha gene DOID:0080855 Parkinsonism ISO RGD:735748 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:15499605|REF_RGD_ID:6478799 11670181 SNCA synuclein alpha gene DOID:10652 Alzheimer's disease ISO RGD:733186 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:11572944|REF_RGD_ID:1302528 11670181 SNCA synuclein alpha gene DOID:10652 Alzheimer's disease ISO RGD:733186 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:18577885|REF_RGD_ID:6478792 11670181 SNCA synuclein alpha gene DOID:11870 Pick's disease ISO RGD:733186 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus PMID:12410393|REF_RGD_ID:6480200 11670181 SNCA synuclein alpha gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:733186 D RGD:9068941 20200609 RGD protein:increased expression:cerebral spinal fluid: PMID:18625222|REF_RGD_ID:13506723 11670181 SNCA synuclein alpha gene DOID:12217 Lewy body dementia ISO RGD:733186 D RGD:7240710 20180130 OMIM 11670181 SNCA synuclein alpha gene DOID:12217 Lewy body dementia ISO RGD:733186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lewy body dementia PMID:10417297|PMID:11261505|PMID:11376188|PMID:12062037|PMID:14593171|PMID:14755719|PMID:14755720|PMID:15144854|PMID:15451224|PMID:15451225|PMID:15498564|PMID:15632170|PMID:16001411|PMID:16199547|PMID:16358335|PMID:17251522|PMID:17489854|PMID:17576681|PMID:17625105|PMID:18195271|PMID:18413475|PMID:18704525|PMID:18852445|PMID:18852448|PMID:18852449|PMID:19139307|PMID:19632874|PMID:19833540|PMID:20340137|PMID:21252228|PMID:21559878|PMID:23427326|PMID:23457019|PMID:23674501|PMID:23880019|PMID:24047453|PMID:24313877|PMID:24552873|PMID:24746362|PMID:24752924|PMID:24936070|PMID:25003242|PMID:25268550|PMID:25393002|PMID:25741868|PMID:25892596|PMID:26341711|PMID:26799529|PMID:26858591|PMID:27066564|PMID:27393118|PMID:28492532|PMID:28666710|PMID:29398121|PMID:29771508|PMID:30528390|PMID:30598256|PMID:32786148|PMID:33617693|PMID:9197268|PMID:9499430|PMID:9506559|PMID:9536098|PMID:9827625 11670181 SNCA synuclein alpha gene DOID:1289 neurodegenerative disease ISO RGD:733186 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:17296847|PMID:18514411|PMID:26075822 11670181 SNCA synuclein alpha gene DOID:13548 secondary Parkinson disease ISO RGD:733186 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34332006 11670181 SNCA synuclein alpha gene DOID:14330 Parkinson's disease ISO RGD:733186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Dominant PMID:23427326|PMID:23457019|PMID:24047453|PMID:24752924|PMID:24936070|PMID:25393002|PMID:25741868|PMID:26341711|PMID:28492532|PMID:29398121|PMID:30528390 11670181 SNCA synuclein alpha gene DOID:1574 alcohol use disorder ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18055133 11670181 SNCA synuclein alpha gene DOID:1596 depressive disorder ISO RGD:3729 D RGD:9068941 20200609 RGD PMID:18800064|REF_RGD_ID:6218960 11670181 SNCA synuclein alpha gene DOID:1596 depressive disorder ISO RGD:733186 D RGD:9068941 20200609 RGD PMID:19198857|REF_RGD_ID:6478716 11670181 SNCA synuclein alpha gene DOID:1926 Gaucher's disease ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19576930 11670181 SNCA synuclein alpha gene DOID:3192 neurilemmoma ISO RGD:3729 D RGD:9068941 20200609 RGD protein:increased expression:cytoplasm PMID:11810180|REF_RGD_ID:6218996 11670181 SNCA synuclein alpha gene DOID:3312 bipolar disorder ISO RGD:733186 D RGD:9068941 20200609 RGD PMID:19198857|REF_RGD_ID:6478716 11670181 SNCA synuclein alpha gene DOID:3321 GM2 gangliosidosis ISO RGD:735748 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:12657883|REF_RGD_ID:6480199 11670181 SNCA synuclein alpha gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:733186 D RGD:9068941 20200609 RGD PMID:10934140|REF_RGD_ID:6480098 11670181 SNCA synuclein alpha gene DOID:4752 multiple system atrophy ISO RGD:733186 D RGD:9068941 20200609 RGD protein:increased expression:oligodendrocyte PMID:9749615|REF_RGD_ID:6480091 11670181 SNCA synuclein alpha gene DOID:5419 schizophrenia ISO RGD:733186 D RGD:9068941 20200609 RGD PMID:19198857|REF_RGD_ID:6478716 11670181 SNCA synuclein alpha gene DOID:6000 congestive heart failure ISO RGD:733186 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 11670181 SNCA synuclein alpha gene DOID:630 genetic disease ISO RGD:733186 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670181 SNCA synuclein alpha gene DOID:670 amphetamine abuse ISO RGD:733186 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:15542733|PMID:32278788 11670181 SNCA synuclein alpha gene DOID:670 amphetamine abuse treatment ISO RGD:3729 D RGD:9068941 20200609 RGD PMID:20551914|REF_RGD_ID:13506280 11670181 SNCA synuclein alpha gene DOID:8646 substance-induced psychosis ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15542733 11670181 SNCA synuclein alpha gene DOID:8692 myeloid leukemia ISO RGD:733186 D RGD:9068941 20200609 RGD PMID:21264917|REF_RGD_ID:6478703 11670181 SNCA synuclein alpha gene DOID:8725 vascular dementia ISO RGD:733186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 11670181 SNCA synuclein alpha gene DOID:893 Wilson disease ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 11670181 SNCA synuclein alpha gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:733186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 11670181 SNCA synuclein alpha gene DOID:9000304 Manganese Poisoning ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23934647 11670181 SNCA synuclein alpha gene DOID:9000542 Animal Lameness ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23219665 11670181 SNCA synuclein alpha gene DOID:9000998 Brain Injuries ISO RGD:3729 D RGD:9068941 20200609 RGD PMID:25089700|REF_RGD_ID:11576302 11670181 SNCA synuclein alpha gene DOID:9000998 Brain Injuries ISO RGD:735748 D RGD:9068941 20200609 RGD PMID:14637093|REF_RGD_ID:6480195 11670181 SNCA synuclein alpha gene DOID:9001981 Weight Loss ISO RGD:733186 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:32278788 11670181 SNCA synuclein alpha gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:733186 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:32278788 11670181 SNCA synuclein alpha gene DOID:9002955 Nerve Degeneration ISO RGD:733186 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21039522|PMID:23106139|PMID:27585560|PMID:34562559 11670181 SNCA synuclein alpha gene DOID:9004866 Ataxia ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31783120 11670181 SNCA synuclein alpha gene DOID:9005632 Cocaine-Related Disorders ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18055133 11670181 SNCA synuclein alpha gene DOID:9005632 Cocaine-Related Disorders ISO RGD:733186 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:dopamine neuron PMID:12684441|REF_RGD_ID:6480198 11670181 SNCA synuclein alpha gene DOID:9006205 Animal Disease Models ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21892157|PMID:26075822 11670202 ADAD1 adenosine deaminase domain containing 1 gene DOID:630 genetic disease ISO RGD:1606972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670202 ADAD1 adenosine deaminase domain containing 1 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1606972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 11670202 ADAD1 adenosine deaminase domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11670228 CD163L1 CD163 molecule like 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1603525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11670228 CD163L1 CD163 molecule like 1 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1603525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11670228 CD163L1 CD163 molecule like 1 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1603525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11670228 CD163L1 CD163 molecule like 1 gene DOID:0080600 COVID-19 ISO RGD:1603525 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11670228 CD163L1 CD163 molecule like 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1603525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11670228 CD163L1 CD163 molecule like 1 gene DOID:0111621 Temtamy syndrome ISO RGD:1603525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11670228 CD163L1 CD163 molecule like 1 gene DOID:1909 melanoma ISO RGD:1603525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842228 11670228 CD163L1 CD163 molecule like 1 gene DOID:630 genetic disease ISO RGD:1603525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670228 CD163L1 CD163 molecule like 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1603525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11670251 CRISP2 cysteine rich secretory protein 2 gene DOID:11372 megacolon ISO RGD:1315322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11670251 CRISP2 cysteine rich secretory protein 2 gene DOID:630 genetic disease ISO RGD:1315322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670287 BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:0060474 familial erythrocytosis 2 ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chuvash polycythemia PMID:10567493|PMID:10830910|PMID:17537157|PMID:19280651|PMID:19764026|PMID:20567917|PMID:28492532|PMID:8634692 11670287 BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1352437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 11670287 BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 11670287 BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:13636 Fanconi anemia ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:17436244|PMID:28492532 11670287 BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:14175 von Hippel-Lindau disease ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Von Hippel-Lindau syndrome PMID:25741868 11670287 BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11670287 BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 11670287 BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:25516202|PMID:28492532 11670294 GP5 glycoprotein V platelet gene DOID:630 genetic disease ISO RGD:736629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670298 TMOD2 tropomodulin 2 gene DOID:0080445 developmental and epileptic encephalopathy 13 ISO RGD:1351754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 11670298 TMOD2 tropomodulin 2 gene DOID:2717 Bloom syndrome ISO RGD:1351754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11670298 TMOD2 tropomodulin 2 gene DOID:607 paraplegia ISO RGD:1351754 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 11670298 TMOD2 tropomodulin 2 gene DOID:630 genetic disease ISO RGD:1351754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670298 TMOD2 tropomodulin 2 gene DOID:9256 colorectal cancer ISO RGD:1351754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11670311 VEGFC vascular endothelial growth factor C gene DOID:0001816 angiosarcoma ISO RGD:732214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 11670311 VEGFC vascular endothelial growth factor C gene DOID:0002116 pterygium ISO RGD:732214 D RGD:9068941 20200609 RGD mRNA:increased expression:bulbar conjunctiva: PMID:22801834|REF_RGD_ID:8548457 11670311 VEGFC vascular endothelial growth factor C gene DOID:0050580 hereditary lymphedema ISO RGD:732215 D RGD:9068941 20220825 MouseDO OMIM:153100 | OMIM:153200 | OMIM:247440 | OMIM:611944 | OMIM:613480 | OMIM:615907 11670311 VEGFC vascular endothelial growth factor C gene DOID:0070209 hereditary lymphedema ID ISO RGD:732214 D RGD:7240710 20180130 OMIM 11670311 VEGFC vascular endothelial growth factor C gene DOID:0070209 hereditary lymphedema ID ISO RGD:732214 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lymphedema, hereditary, ID PMID:23410910|PMID:24744435|PMID:25741868|PMID:30071673 11670311 VEGFC vascular endothelial growth factor C gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732214 D RGD:9068941 20200609 RGD PMID:17094484|REF_RGD_ID:2315482 11670311 VEGFC vascular endothelial growth factor C gene DOID:1324 lung cancer ISO RGD:732214 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 11670311 VEGFC vascular endothelial growth factor C gene DOID:1909 melanoma ISO RGD:732214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17562445 11670311 VEGFC vascular endothelial growth factor C gene DOID:1936 atherosclerosis ISO RGD:732215 D RGD:9068941 20200609 RGD associated with hypercholesterolemia;protein:increased expression:serum: PMID:22206010|REF_RGD_ID:7483588 11670311 VEGFC vascular endothelial growth factor C gene DOID:2154 nephroblastoma disease_progression ISO RGD:732214 D RGD:9068941 20200609 RGD PMID:17257131|REF_RGD_ID:2315481 11670311 VEGFC vascular endothelial growth factor C gene DOID:234 colon adenocarcinoma ISO RGD:619800 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:18424890|REF_RGD_ID:2315488 11670311 VEGFC vascular endothelial growth factor C gene DOID:2394 ovarian cancer disease_progression ISO RGD:732214 D RGD:9068941 20200609 RGD PMID:19911196|REF_RGD_ID:2315470 11670311 VEGFC vascular endothelial growth factor C gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:732214 D RGD:9068941 20200609 RGD PMID:19885590|REF_RGD_ID:2315471 11670311 VEGFC vascular endothelial growth factor C gene DOID:3113 papillary carcinoma disease_progression ISO RGD:732214 D RGD:9068941 20200609 RGD associated with thyroid diseases;mRNA:increased expression:thyroid gland: PMID:12203051|REF_RGD_ID:7483611 11670311 VEGFC vascular endothelial growth factor C gene DOID:3459 breast carcinoma ISO RGD:732214 D RGD:9068941 20200609 RGD PMID:19382240|REF_RGD_ID:2315477 11670311 VEGFC vascular endothelial growth factor C gene DOID:4074 pancreatic adenocarcinoma exacerbates ISO RGD:732214 D RGD:9068941 20221027 RGD protein:increased expression:pancreas (human) PMID:22082308|REF_RGD_ID:155630643 11670311 VEGFC vascular endothelial growth factor C gene DOID:4450 renal cell carcinoma ISO RGD:732214 D RGD:9068941 20200609 RGD PMID:19500329|REF_RGD_ID:2315476 11670311 VEGFC vascular endothelial growth factor C gene DOID:5082 liver cirrhosis ISO RGD:732214 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:18544126|REF_RGD_ID:15003200 11670311 VEGFC vascular endothelial growth factor C gene DOID:630 genetic disease ISO RGD:732214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670311 VEGFC vascular endothelial growth factor C gene DOID:684 hepatocellular carcinoma ISO RGD:732214 D RGD:9068941 20200609 RGD associated with liver cirrhosis; protein:increased expression:liver: PMID:18544126|REF_RGD_ID:15003200 11670311 VEGFC vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis ISO RGD:732214 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:19923084|REF_RGD_ID:2315469 11670311 VEGFC vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis ISO RGD:732214 D RGD:9068941 20200609 RGD associated with Carcinoma, Transitional Cell;protein:increased expression:urinary bladder PMID:17034609|REF_RGD_ID:2315484 11670311 VEGFC vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis ISO RGD:732214 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms PMID:19589137|REF_RGD_ID:2315475 11670311 VEGFC vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis ISO RGD:732214 D RGD:9068941 20200609 RGD associated with Lymphatic Metastasis; PMID:15289890|REF_RGD_ID:7488946 11670311 VEGFC vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis ISO RGD:732214 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:19608016|REF_RGD_ID:2315474 11670311 VEGFC vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:732214 D RGD:9068941 20200609 RGD associated with thyroid diseases;mRNA:increased expression:thyroid gland: PMID:12203051|REF_RGD_ID:7483611 11670311 VEGFC vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis exacerbates ISO RGD:732214 D RGD:9068941 20221027 RGD associated with pancreatic adenocarcinoma;protein:increased expression:pancreas (human) PMID:18061373|REF_RGD_ID:155630642 11670311 VEGFC vascular endothelial growth factor C gene DOID:9002801 Recurrence ISO RGD:732214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26124351 11670311 VEGFC vascular endothelial growth factor C gene DOID:9004009 Reperfusion Injury ISO RGD:619800 D RGD:9068941 20200609 RGD PMID:18704465|REF_RGD_ID:2315487 11670311 VEGFC vascular endothelial growth factor C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11670311 VEGFC vascular endothelial growth factor C gene DOID:9005873 Tongue Neoplasms disease_progression ISO RGD:732214 D RGD:9068941 20200609 RGD PMID:15289890|REF_RGD_ID:7488946 11670311 VEGFC vascular endothelial growth factor C gene DOID:9008939 Breast Neoplasms ISO RGD:732214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18509974|PMID:26124351 11670322 IZUMO1 izumo sperm-oocyte fusion 1 gene DOID:630 genetic disease ISO RGD:1604485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670352 IL1RAP interleukin 1 receptor accessory protein gene DOID:409 liver disease ISO RGD:732294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11670352 IL1RAP interleukin 1 receptor accessory protein gene DOID:5419 schizophrenia ISO RGD:732294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11670352 IL1RAP interleukin 1 receptor accessory protein gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:732294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27738319 11670352 IL1RAP interleukin 1 receptor accessory protein gene DOID:630 genetic disease ISO RGD:732294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670352 IL1RAP interleukin 1 receptor accessory protein gene DOID:684 hepatocellular carcinoma ISO RGD:732294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11670352 IL1RAP interleukin 1 receptor accessory protein gene DOID:9000918 Disease Progression ISO RGD:732294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27738319 11670352 IL1RAP interleukin 1 receptor accessory protein gene DOID:9002189 High Myopia ISO RGD:732294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11670381 TMEM249 transmembrane protein 249 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:6767351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11670381 TMEM249 transmembrane protein 249 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:6767351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11670381 TMEM249 transmembrane protein 249 gene DOID:4621 holoprosencephaly ISO RGD:6767351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11670381 TMEM249 transmembrane protein 249 gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:6767351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy 11670391 C15H15orf61 chromosome 15 C15orf61 homolog gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:2302457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11670391 C15H15orf61 chromosome 15 C15orf61 homolog gene DOID:2717 Bloom syndrome ISO RGD:2302457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11670391 C15H15orf61 chromosome 15 C15orf61 homolog gene DOID:630 genetic disease ISO RGD:2302457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670391 C15H15orf61 chromosome 15 C15orf61 homolog gene DOID:9256 colorectal cancer ISO RGD:2302457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11670412 LCNL1 lipocalin like 1 gene DOID:0050777 Joubert syndrome ISO RGD:1601788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11670412 LCNL1 lipocalin like 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1601788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11670412 LCNL1 lipocalin like 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1601788 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11670412 LCNL1 lipocalin like 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1601788 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11670412 LCNL1 lipocalin like 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1601788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11670412 LCNL1 lipocalin like 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1601788 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11670412 LCNL1 lipocalin like 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1601788 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11670412 LCNL1 lipocalin like 1 gene DOID:0080600 COVID-19 ISO RGD:1601788 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11670412 LCNL1 lipocalin like 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1601788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11670412 LCNL1 lipocalin like 1 gene DOID:1826 epilepsy ISO RGD:1601788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11670412 LCNL1 lipocalin like 1 gene DOID:3652 Leigh disease ISO RGD:1601788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11670412 LCNL1 lipocalin like 1 gene DOID:630 genetic disease ISO RGD:1601788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670412 LCNL1 lipocalin like 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1601788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11670439 TMEM171 transmembrane protein 171 gene DOID:630 genetic disease ISO RGD:1606157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670439 TMEM171 transmembrane protein 171 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11670449 SMAD5 SMAD family member 5 gene DOID:0060001 withdrawal disorder ISO RGD:1349958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 11670449 SMAD5 SMAD family member 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349958 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11670449 SMAD5 SMAD family member 5 gene DOID:2999 granulosa cell tumor ISO RGD:1550273 D RGD:9068941 20200609 RGD PMID:17967875|REF_RGD_ID:2299978 11670449 SMAD5 SMAD family member 5 gene DOID:630 genetic disease ISO RGD:1349958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670449 SMAD5 SMAD family member 5 gene DOID:9004207 Testicular Neoplasms ISO RGD:1550273 D RGD:9068941 20200609 RGD PMID:17967875|REF_RGD_ID:2299978 11670449 SMAD5 SMAD family member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11670449 SMAD5 SMAD family member 5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1349958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 11670449 SMAD5 SMAD family member 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349958 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11670449 SMAD5 SMAD family member 5 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349958 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20079400 11670475 EGFLAM EGF like, fibronectin type III and laminin G domains gene DOID:630 genetic disease ISO RGD:1602070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670475 EGFLAM EGF like, fibronectin type III and laminin G domains gene DOID:9002189 High Myopia ISO RGD:1602070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11670475 EGFLAM EGF like, fibronectin type III and laminin G domains gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11670507 TTC6 tetratricopeptide repeat domain 6 gene DOID:0050778 Meckel syndrome ISO RGD:1323287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome 11670507 TTC6 tetratricopeptide repeat domain 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1323287 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11670558 RAP2B RAP2B, member of RAS oncogene family gene DOID:630 genetic disease ISO RGD:736861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670563 PARP8 poly(ADP-ribose) polymerase family member 8 gene DOID:630 genetic disease ISO RGD:1350347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670563 PARP8 poly(ADP-ribose) polymerase family member 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11670606 ZFR2 zinc finger RNA binding protein 2 gene DOID:13938 amenorrhea ISO RGD:1312353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11670606 ZFR2 zinc finger RNA binding protein 2 gene DOID:630 genetic disease ISO RGD:1312353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670606 ZFR2 zinc finger RNA binding protein 2 gene DOID:9970 obesity ISO RGD:1312353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 11670631 STK10 serine/threonine kinase 10 gene DOID:630 genetic disease ISO RGD:733000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670631 STK10 serine/threonine kinase 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11670654 SRRM4 serine/arginine repetitive matrix 4 gene DOID:3426 vestibular disease ISO RGD:1603376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17613114 11670654 SRRM4 serine/arginine repetitive matrix 4 gene DOID:630 genetic disease ISO RGD:1603376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670654 SRRM4 serine/arginine repetitive matrix 4 gene DOID:9002500 Hearing Disorders ISO RGD:1603376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17613114 11670671 TFAP2E transcription factor AP-2 epsilon gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1352189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11670671 TFAP2E transcription factor AP-2 epsilon gene DOID:630 genetic disease ISO RGD:1352189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670686 FAM227A family with sequence similarity 227 member A gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:6767369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11670686 FAM227A family with sequence similarity 227 member A gene DOID:0090036 myoclonic dystonia 26 ISO RGD:6767369 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11670686 FAM227A family with sequence similarity 227 member A gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:6767369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11670686 FAM227A family with sequence similarity 227 member A gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:6767369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11670686 FAM227A family with sequence similarity 227 member A gene DOID:630 genetic disease ISO RGD:6767369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670772 NFYB nuclear transcription factor Y subunit beta gene DOID:630 genetic disease ISO RGD:1352074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670786 DBNL drebrin like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11670786 DBNL drebrin like gene DOID:630 genetic disease ISO RGD:1606301 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11670786 DBNL drebrin like gene DOID:9000884 Rhabdomyolysis ISO RGD:1606301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:28779239 11670786 DBNL drebrin like gene DOID:9005787 Dimauro Disease ISO RGD:1606301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dimauro disease | ClinVar Annotator: match by term: GSD X | ClinVar Annotator: match by term: Myopathy due to phosphoglycerate mutase deficiency PMID:10545043|PMID:16881065|PMID:17576681|PMID:18852891|PMID:19273759|PMID:19322572|PMID:19783439|PMID:21444020|PMID:22995991|PMID:23169535|PMID:23335027|PMID:25741868|PMID:26502762|PMID:27612597|PMID:28492532|PMID:28944235|PMID:2987758|PMID:30310767|PMID:33782433|PMID:6308514|PMID:8447317|PMID:9536098 11670818 RNF19B ring finger protein 19B gene DOID:0080600 COVID-19 ISO RGD:1313515 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11670818 RNF19B ring finger protein 19B gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1313515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11670818 RNF19B ring finger protein 19B gene DOID:630 genetic disease ISO RGD:1313515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670836 TDRKH tudor and KH domain containing gene DOID:0111940 immunodeficiency 42 ISO RGD:1322527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11670836 TDRKH tudor and KH domain containing gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1322527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11670836 TDRKH tudor and KH domain containing gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1322527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11670836 TDRKH tudor and KH domain containing gene DOID:12377 spinal muscular atrophy ISO RGD:1322527 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:30503856 11670836 TDRKH tudor and KH domain containing gene DOID:14227 azoospermia ISO RGD:1322527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 11670836 TDRKH tudor and KH domain containing gene DOID:1540 parathyroid carcinoma ISO RGD:1322527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11670836 TDRKH tudor and KH domain containing gene DOID:5812 MHC class II deficiency ISO RGD:1322527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11670836 TDRKH tudor and KH domain containing gene DOID:630 genetic disease ISO RGD:1322527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670836 TDRKH tudor and KH domain containing gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11670863 MEIS2 Meis homeobox 2 gene DOID:0050567 orofacial cleft ISO RGD:1313085 D RGD:9068941 20221020 RGD DNA:mutations, haplotype insufficiency: : PMID:24678003|REF_RGD_ID:155598680 11670863 MEIS2 Meis homeobox 2 gene DOID:0111697 cleft palate, cardiac defects, and intellectual disabillity ISO RGD:1313085 D RGD:7240710 20190315 OMIM 11670863 MEIS2 Meis homeobox 2 gene DOID:0111697 cleft palate, cardiac defects, and intellectual disabillity ISO RGD:1313085 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies PMID:24678003|PMID:25712757|PMID:25741868|PMID:27225850|PMID:28492532|PMID:30055086|PMID:30291340|PMID:33526774 11670863 MEIS2 Meis homeobox 2 gene DOID:1067 open-angle glaucoma susceptibility ISO RGD:1313085 D RGD:9068941 20221020 RGD DNA:SNP::rs28480457(human) PMID:29452408|REF_RGD_ID:155630591 11670863 MEIS2 Meis homeobox 2 gene DOID:2717 Bloom syndrome ISO RGD:1313085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11670863 MEIS2 Meis homeobox 2 gene DOID:3454 brain infarction ISO RGD:1305198 D RGD:9068941 20221027 RGD protein:altered expression:brain (rat) PMID:12161747|REF_RGD_ID:155630606 11670863 MEIS2 Meis homeobox 2 gene DOID:630 genetic disease ISO RGD:1313085 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30291340|PMID:30735726 11670863 MEIS2 Meis homeobox 2 gene DOID:674 cleft palate ISO RGD:1313085 D RGD:9068941 20221020 RGD DNA:mutations:cds:multiples PMID:30291340|REF_RGD_ID:155598678 11670863 MEIS2 Meis homeobox 2 gene DOID:8927 learning disability ISO RGD:1313085 D RGD:9068941 20221020 RGD DNA:mutations, haplotype insufficiency: : PMID:24678003|REF_RGD_ID:155598680 11670863 MEIS2 Meis homeobox 2 gene DOID:9004397 calcification of aortic valve ISO RGD:1313085 D RGD:9068941 20221020 RGD mRNA,protein:decreased expression:aortic valve: PMID:30594396|REF_RGD_ID:155598679 11670863 MEIS2 Meis homeobox 2 gene DOID:9005813 DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES ISO RGD:1313085 D RGD:9068941 20221020 RGD DNA:mutations:cds:multiples PMID:30291340|REF_RGD_ID:155598678 11670863 MEIS2 Meis homeobox 2 gene DOID:9256 colorectal cancer ISO RGD:1313085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11670903 SPATA32 spermatogenesis associated 32 gene DOID:630 genetic disease ISO RGD:1603588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670916 ERGIC3 ERGIC and golgi 3 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1317746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27588471 11670916 ERGIC3 ERGIC and golgi 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1317746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27588471 11670916 ERGIC3 ERGIC and golgi 3 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1317747 D RGD:9068941 20220812 RGD PMID:27588471|REF_RGD_ID:153323314 11670916 ERGIC3 ERGIC and golgi 3 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1317746 D RGD:9068941 20220812 RGD mRNA,protein:increased expression:lung (human) PMID:23374247|REF_RGD_ID:151708716 11670916 ERGIC3 ERGIC and golgi 3 gene DOID:630 genetic disease ISO RGD:1317746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670916 ERGIC3 ERGIC and golgi 3 gene DOID:9002170 Experimental Neoplasms ISO RGD:1317746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27588471 11670916 ERGIC3 ERGIC and golgi 3 gene DOID:9005172 Lung Neoplasms ISO RGD:1317746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27588471 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:1606336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:0110471 autosomal recessive nonsyndromic deafness 16 ISO RGD:1606336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 16 PMID:25741868 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:1059 intellectual disability ISO RGD:1606336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:11088 asphyxia neonatorum ISO RGD:68430 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus: PMID:15453273|REF_RGD_ID:9999183 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:14566 disease of cellular proliferation ISO RGD:1606336 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17353921 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:2048 autoimmune hepatitis ISO RGD:1606336 D RGD:9068941 20200609 RGD PMID:20208391|REF_RGD_ID:9999172 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:2048 autoimmune hepatitis ISO RGD:68430 D RGD:9068941 20200609 RGD PMID:20208391|REF_RGD_ID:9999172 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:2055 post-traumatic stress disorder ISO RGD:68430 D RGD:9068941 20200609 RGD PMID:25331812|REF_RGD_ID:13782181 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:2717 Bloom syndrome ISO RGD:1606336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:5082 liver cirrhosis ISO RGD:68430 D RGD:9068941 20200609 RGD protein:decreased expression:liver: PMID:24562544|REF_RGD_ID:9999176 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:5082 liver cirrhosis severity ISO RGD:1606336 D RGD:9068941 20200609 RGD protein:decreased expression:liver: PMID:24562544|REF_RGD_ID:9999176 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:5434 scrapie ISO RGD:1553192 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:15772339|REF_RGD_ID:9999196 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:630 genetic disease ISO RGD:1606336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:6432 pulmonary hypertension ISO RGD:68430 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:23315792|REF_RGD_ID:9999167 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1606336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1606336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:9002477 Sensorineural Deafness and Male Infertility ISO RGD:1606336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness-infertility syndrome PMID:25741868 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:68430 D RGD:9068941 20200609 RGD PMID:12872233|REF_RGD_ID:1624250 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:9007993 Dehydration ISO RGD:68430 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:17412804|REF_RGD_ID:1642352 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:9256 colorectal cancer ISO RGD:1606336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:9778 irritable bowel syndrome ISO RGD:68430 D RGD:9068941 20200609 RGD protein:increased expression:colonic mucosa: PMID:20367971|REF_RGD_ID:9999158 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:9778 irritable bowel syndrome severity ISO RGD:68430 D RGD:9068941 20200609 RGD PMID:26221224|REF_RGD_ID:13838729 11670954 ATP2A3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 gene DOID:10763 hypertension ISO RGD:2175 D RGD:9068941 20200609 RGD PMID:11208768|REF_RGD_ID:68726 11670954 ATP2A3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 gene DOID:630 genetic disease ISO RGD:732893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670954 ATP2A3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 gene DOID:657 adenoma ISO RGD:732893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23913004 11670954 ATP2A3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2175 D RGD:9068941 20200609 RGD PMID:20122173|REF_RGD_ID:13782130 11670954 ATP2A3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 11670954 ATP2A3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 11670986 DDIT4 DNA damage inducible transcript 4 gene DOID:0080600 COVID-19 ISO RGD:1346554 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11670986 DDIT4 DNA damage inducible transcript 4 gene DOID:1240 leukemia ISO RGD:1346554 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17379067 11670986 DDIT4 DNA damage inducible transcript 4 gene DOID:14330 Parkinson's disease ISO RGD:1346554 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17005863 11670986 DDIT4 DNA damage inducible transcript 4 gene DOID:403 mouth disease ISO RGD:1346554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 11670986 DDIT4 DNA damage inducible transcript 4 gene DOID:630 genetic disease ISO RGD:1346554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670986 DDIT4 DNA damage inducible transcript 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1346554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17379860 11670986 DDIT4 DNA damage inducible transcript 4 gene DOID:9002955 Nerve Degeneration ISO RGD:1346554 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17005863 11670993 CSF2RB colony stimulating factor 2 receptor subunit beta gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1348418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11670993 CSF2RB colony stimulating factor 2 receptor subunit beta gene DOID:0070194 autosomal recessive chronic granulomatous disease 3 ISO RGD:1348418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III PMID:28492532 11670993 CSF2RB colony stimulating factor 2 receptor subunit beta gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1348418 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11670993 CSF2RB colony stimulating factor 2 receptor subunit beta gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1348418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11670993 CSF2RB colony stimulating factor 2 receptor subunit beta gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1348418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11670993 CSF2RB colony stimulating factor 2 receptor subunit beta gene DOID:2316 brain ischemia ISO RGD:620189 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:7643220|REF_RGD_ID:632531 11670993 CSF2RB colony stimulating factor 2 receptor subunit beta gene DOID:2841 asthma ISO RGD:620189 D RGD:9068941 20200609 RGD PMID:17145927|REF_RGD_ID:1601020 11670993 CSF2RB colony stimulating factor 2 receptor subunit beta gene DOID:630 genetic disease ISO RGD:1348418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 11670993 CSF2RB colony stimulating factor 2 receptor subunit beta gene DOID:9007475 Pulmonary Surfactant Metabolism Dysfunction 5 ISO RGD:1348418 D RGD:7240710 20180130 OMIM 11670993 CSF2RB colony stimulating factor 2 receptor subunit beta gene DOID:9007475 Pulmonary Surfactant Metabolism Dysfunction 5 ISO RGD:1348418 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 5 PMID:21075760|PMID:21205713|PMID:25741868|PMID:27118405|PMID:28492532 11671015 LOC100989368 Kell metallo-endopeptidase (Kell blood group) gene DOID:630 genetic disease ISO RGD:1316929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11671015 LOC100989368 Kell metallo-endopeptidase (Kell blood group) gene DOID:9003879 Vein of Galen Aneurysm ISO RGD:1316929 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galen vein aneurysm PMID:30578106 11671043 GIGYF2 GRB10 interacting GYF protein 2 gene DOID:0060476 Perlman syndrome ISO RGD:1314368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11671043 GIGYF2 GRB10 interacting GYF protein 2 gene DOID:0110118 Leber congenital amaurosis 16 ISO RGD:1314368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 16 PMID:18179896|PMID:21763485|PMID:23255580|PMID:23977131|PMID:25326637|PMID:25475713|PMID:25741868|PMID:25921210|PMID:27203561|PMID:28492532|PMID:29068479 11671043 GIGYF2 GRB10 interacting GYF protein 2 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1314368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11671043 GIGYF2 GRB10 interacting GYF protein 2 gene DOID:0111570 snowflake vitreoretinal degeneration ISO RGD:1314368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Snowflake vitreoretinal degeneration PMID:18179896|PMID:23255580|PMID:23977131|PMID:25741868|PMID:28492532|PMID:33546218 11671043 GIGYF2 GRB10 interacting GYF protein 2 gene DOID:14791 Leber congenital amaurosis ISO RGD:1314368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25326637 11671043 GIGYF2 GRB10 interacting GYF protein 2 gene DOID:630 genetic disease ISO RGD:1314368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11671043 GIGYF2 GRB10 interacting GYF protein 2 gene DOID:8501 fundus dystrophy ISO RGD:1314368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 11671043 GIGYF2 GRB10 interacting GYF protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 11671043 GIGYF2 GRB10 interacting GYF protein 2 gene DOID:9007737 Parkinson's Disease 11 ISO RGD:1314368 D RGD:7240710 20180130 OMIM 11671043 GIGYF2 GRB10 interacting GYF protein 2 gene DOID:9007737 Parkinson's Disease 11 ISO RGD:1314368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease 11, autosomal dominant, susceptibility to PMID:18358451|PMID:18923002|PMID:19250854|PMID:19279319|PMID:19449032|PMID:24033266|PMID:25326637|PMID:25741868 11671102 CYP26C1 cytochrome P450 family 26 subfamily C member 1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1318849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 11671102 CYP26C1 cytochrome P450 family 26 subfamily C member 1 gene DOID:630 genetic disease ISO RGD:1318849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11671102 CYP26C1 cytochrome P450 family 26 subfamily C member 1 gene DOID:9000745 Focal Facial Dermal Dysplasia ISO RGD:1318849 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism 11671102 CYP26C1 cytochrome P450 family 26 subfamily C member 1 gene DOID:9000763 Focal Facial Dermal Dysplasia 4 ISO RGD:1318849 D RGD:7240710 20180130 OMIM 11671102 CYP26C1 cytochrome P450 family 26 subfamily C member 1 gene DOID:9000763 Focal Facial Dermal Dysplasia 4 ISO RGD:1318849 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Focal facial dermal dysplasia 4 PMID:16530710|PMID:23161670|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29263414 11671126 PLXNA1 plexin A1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1342576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 11671126 PLXNA1 plexin A1 gene DOID:1826 epilepsy ISO RGD:1342576 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11671126 PLXNA1 plexin A1 gene DOID:630 genetic disease ISO RGD:1342576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11671126 PLXNA1 plexin A1 gene DOID:9000876 DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME ISO RGD:1342576 D RGD:7240710 20221207 OMIM 11671126 PLXNA1 plexin A1 gene DOID:9000876 DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME ISO RGD:1342576 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Dworschak-Punetha neurodevelopmental syndrome | ClinVar Annotator: match by term: PLXNA1-related neurodevelopmental disorder PMID:25741868|PMID:34054129 11671126 PLXNA1 plexin A1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342576 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:34054129 11671126 PLXNA1 plexin A1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1342576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 11671126 PLXNA1 plexin A1 gene DOID:9270 alkaptonuria ISO RGD:1342576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:0050553 JMP syndrome ISO RGD:1347386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:0080820 occupational asthma susceptibility ISO RGD:1347386 D RGD:9068941 20200609 RGD DNA:SNP: : rs928976(human) PMID:24709764|REF_RGD_ID:13506912 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:0081267 graft-versus-host disease severity ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:polymorphsims: :multiple (human) PMID:12774051|REF_RGD_ID:150429809 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:10322 berylliosis ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11551429|PMID:14662898|PMID:15273960|PMID:17927685|PMID:17956852|PMID:8105536 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:10608 celiac disease ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17956852 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:11166 papillomavirus infectious disease susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD associated with cervical cancer;DNA:polymorphism: :HLA-DPB1*040101 (human) PMID:17349874|REF_RGD_ID:150429811 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:11335 sarcoidosis ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14508706|PMID:17956852|PMID:8909942 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:1555 urticaria ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:1558 angioedema ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15784113 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2043 hepatitis B disease_progression ISO RGD:1347386 D RGD:9068941 20200609 RGD DNA:polymorphisms:3-UTR:rs9277534(human) PMID:22496224|REF_RGD_ID:14694821 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2043 hepatitis B severity ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:SNPs, haplotype:3' utr:multiple (human) PMID:26197724|REF_RGD_ID:11553629 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2043 hepatitis B susceptibility ISO RGD:1347386 D RGD:9068941 20200609 RGD DNA:SNP: :rs9277535(human) PMID:27051043|REF_RGD_ID:14694816 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2043 hepatitis B treatment ISO RGD:1347386 D RGD:9068941 20200609 RGD DNA:SNP: :rs7770370(human) PMID:27083422|REF_RGD_ID:14694820 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2048 autoimmune hepatitis susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:SNP, polymorphism:3' utr, :g.33087030G>A, HLA-DPB1*04:05 (rs9277534) (human) PMID:30093645|REF_RGD_ID:150429797 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2377 multiple sclerosis ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17956852 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2377 multiple sclerosis ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:polymorphism: :HLA-DPB1*0501 (human) PMID:17125797|REF_RGD_ID:150429801 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:polymorphisms: :HLA-DPB1*02, HLA-DPB1*03, HLA-DPB1*04 (human) PMID:32560041|REF_RGD_ID:150429806 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2772 irritant dermatitis ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27258892 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2841 asthma ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16792590|PMID:17956852 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2841 asthma ISO RGD:1347386 D RGD:9068941 20200609 RGD DNA:haplotype PMID:21217921|REF_RGD_ID:5143938 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2841 asthma susceptibility ISO RGD:1347386 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:21814517|REF_RGD_ID:13506911 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:289 endometriosis ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17956852 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2957 pulmonary tuberculosis ISO RGD:1347386 D RGD:9068941 20200609 RGD PMID:18652916|REF_RGD_ID:5144001 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1347386 D RGD:9068941 20200609 RGD PMID:21423603|REF_RGD_ID:5143980 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:322 myelitis susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:polymorphism: :HLA-DPB1*0201 (human) PMID:22884298|REF_RGD_ID:150429795 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:409 liver disease exacerbates ISO RGD:1347386 D RGD:9068941 20211001 RGD associated with Chronic Hepatitis C;mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:28332201|REF_RGD_ID:150429805 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:4362 cervical cancer susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:polymorphism: :HLA-DPB1*1301 (human) PMID:17349874|REF_RGD_ID:150429811 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:437 myasthenia gravis ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17956852 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:1347386 D RGD:9068941 20200609 RGD PMID:21569485|REF_RGD_ID:5147561 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:7148 rheumatoid arthritis ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17956852|PMID:22286218 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:850 lung disease ISO RGD:1347386 D RGD:9068941 20200609 RGD PMID:21186201|REF_RGD_ID:5143998 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:8986 narcolepsy susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:polymorphisms, haplotypes: :multiple (human) PMID:25574827|REF_RGD_ID:150429810 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9000509 Epstein-Barr Virus Infections susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD associated with infectious mononucleosis, Hodgkin's lymphoma;DNA:polymorphism: :HLA-DPB1*0301 (human) PMID:11401923|REF_RGD_ID:150429800 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23817570 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9004017 Chronic Hepatitis C ISO RGD:1347386 D RGD:9068941 20211001 RGD mRNA:increased expression:peripheral blood mononuclear cell(human) PMID:28332201|REF_RGD_ID:150429805 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9004017 Chronic Hepatitis C ameliorates ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:polymorphism: :HLA-DPB1*04:01 (human) PMID:27601657|REF_RGD_ID:150429796 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9005236 Drug Eruptions ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9006788 Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis susceptibility ISO RGD:1347386 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:HLA-DPB1*0202 (human) PMID:19165231|REF_RGD_ID:5143999 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9008023 Memory Disorders ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14975599 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9008163 Chronic Hepatitis B ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19349983 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:1347386 D RGD:9068941 20210917 RGD DNA:SNPs:multiple (human) PMID:21274863|REF_RGD_ID:150429660 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1347386 D RGD:9068941 20200609 RGD DNA:SNP: :rs33054861(human) PMID:27051043|REF_RGD_ID:14694816 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:SNP:exon 6: (rs9277542) (human) PMID:22737229|REF_RGD_ID:150429807 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:SNP:exon, 3' utr: (rs9277542) (human) PMID:28267888|REF_RGD_ID:14974232 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:polymorphism:exon, 3' utr: (rs9277535) (human) PMID:21310144|REF_RGD_ID:150429802 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:polymorphisms, haplotypes:multiple (human) PMID:19349983|PMID:24520320|REF_RGD_ID:150429799|REF_RGD_ID:150429808 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:polymorphisms:multiple (human) PMID:26449183|REF_RGD_ID:11536957 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:polymorphism: :(human) PMID:25109699|REF_RGD_ID:150429794 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9415 allergic asthma susceptibility ISO RGD:1347386 D RGD:9068941 20200609 RGD DNA:polymorphism: PMID:28380482|REF_RGD_ID:13506910 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9744 type 1 diabetes mellitus ISO RGD:1347386 D RGD:9068941 20200609 RGD PMID:7576003|REF_RGD_ID:6480651 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:0050473 Alstrom syndrome ISO RGD:1323128 D RGD:7240710 20180130 OMIM 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:0050473 Alstrom syndrome ISO RGD:1323128 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome PMID:11941369|PMID:11941370|PMID:15689433|PMID:16199547|PMID:16720663|PMID:17576681|PMID:17594715|PMID:17850632|PMID:18038714|PMID:18154657|PMID:18414213|PMID:19763152|PMID:20307669|PMID:21157496|PMID:21877133|PMID:21897446|PMID:21901789|PMID:21943378|PMID:22406018|PMID:22447358|PMID:22533542|PMID:22555271|PMID:22773737|PMID:22876109|PMID:23188138|PMID:23847139|PMID:24033266|PMID:24049434|PMID:24462884|PMID:24503146|PMID:24595103|PMID:24830966|PMID:25268133|PMID:25296579|PMID:25468891|PMID:25533962|PMID:25640679|PMID:25706677|PMID:25741868|PMID:25846608|PMID:25999675|PMID:26010121|PMID:26047050|PMID:26077327|PMID:26082521|PMID:26104972|PMID:26111748|PMID:26239645|PMID:26283575|PMID:26285675|PMID:26467025|PMID:26566502|PMID:26633542|PMID:26636822|PMID:27178444|PMID:27665122|PMID:28402684|PMID:28432734|PMID:28492532|PMID:28502102|PMID:28717663|PMID:29079548|PMID:29193673|PMID:29345162|PMID:29588463|PMID:29610177|PMID:29715191|PMID:30029497|PMID:30064963|PMID:30311386|PMID:30488743|PMID:31607746|PMID:31630094|PMID:31638414|PMID:31755649|PMID:32531870|PMID:32581362|PMID:32944671|PMID:32973878|PMID:9063741|PMID:9409865|PMID:9536098 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:0050473 Alstrom syndrome ISO RGD:1323128 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome PMID:11941369|PMID:11941370|PMID:15689433|PMID:16199547|PMID:16720663|PMID:17576681|PMID:17594715|PMID:17850632|PMID:18038714|PMID:18154657|PMID:18195218|PMID:18414213|PMID:18654604|PMID:19283855|PMID:19763152|PMID:20307669|PMID:21128906|PMID:21157496|PMID:21877133|PMID:21897446|PMID:21901789|PMID:21943378|PMID:22406018|PMID:22447358|PMID:22533542|PMID:22555271|PMID:22773737|PMID:22876109|PMID:23188138|PMID:23661369|PMID:23847139|PMID:24033266|PMID:24049434|PMID:24257694|PMID:24400638|PMID:24462884|PMID:24503146|PMID:24595103|PMID:24690487|PMID:24830966|PMID:25268133|PMID:25296579|PMID:25468891|PMID:25469153|PMID:25533962|PMID:25640679|PMID:25706677|PMID:25741868|PMID:25846608|PMID:25999675|PMID:26010121|PMID:26047050|PMID:26066530|PMID:26077327|PMID:26082521|PMID:26104972|PMID:26111748|PMID:26239645|PMID:26283575|PMID:26285675|PMID:26467025|PMID:26566502|PMID:26633542|PMID:26636822|PMID:26704672|PMID:26992781|PMID:27178444|PMID:27486776|PMID:27665122|PMID:28112973|PMID:28145517|PMID:28402684|PMID:28432734|PMID:28456785|PMID:28492532|PMID:28502102|PMID:28717663|PMID:28724398|PMID:28912962|PMID:29079548|PMID:29193673|PMID:29302074|PMID:29345162|PMID:29588463|PMID:29590070|PMID:29610177|PMID:29715191|PMID:29718281|PMID:29961767|PMID:29970176|PMID:29976977|PMID:30029497|PMID:30054919|PMID:30064963|PMID:30311386|PMID:30421101|PMID:30488743|PMID:30513137|PMID:30532227|PMID:30600744|PMID:31106028|PMID:31456290|PMID:31607746|PMID:31624253|PMID:31630094|PMID:31638414|PMID:31755649|PMID:31810438|PMID:31898538|PMID:32349990|PMID:32483926|PMID:32503575|PMID:32531858|PMID:32531870|PMID:32581362|PMID:32682410|PMID:32746448|PMID:32856788|PMID:32944671|PMID:32973878|PMID:33502066|PMID:33669459|PMID:33924909|PMID:33981653|PMID:34147365|PMID:34148947|PMID:9063741|PMID:9409865|PMID:9536098 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:0050473 Alstrom syndrome susceptibility ISO RGD:1323128 D RGD:9068941 20200609 RGD DNA:frameshift mutations, nonsense mutations PMID:11941369|REF_RGD_ID:1601169 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:0050572 cone-rod dystrophy ISO RGD:1323128 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:17594715|PMID:25741868|PMID:26047050|PMID:26077327|PMID:28492532|PMID:29588463 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:0060786 hypomyelinating leukodystrophy ISO RGD:1323128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy PMID:17594715|PMID:24462884|PMID:25296579|PMID:25741868|PMID:26066530|PMID:26104972|PMID:27178444|PMID:28492532|PMID:32581362 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1323128 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:0080046 Stickler syndrome ISO RGD:1323128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stickler syndrome PMID:17594715|PMID:28492532|PMID:30311386 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:10579 leukodystrophy ISO RGD:1323128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:17594715|PMID:24462884|PMID:25296579|PMID:25741868|PMID:26066530|PMID:26104972|PMID:27178444|PMID:28492532|PMID:32581362 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:10584 retinitis pigmentosa ISO RGD:1323128 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17594715|PMID:25706677|PMID:25741868|PMID:25846608|PMID:28492532|PMID:30718709 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:1059 intellectual disability ISO RGD:1323128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17594715|PMID:25741868|PMID:25846608|PMID:28492532 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:1184 nephrotic syndrome ISO RGD:1323128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:28492532 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:12930 dilated cardiomyopathy ISO RGD:1323128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22447358 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:14250 Down syndrome ISO RGD:1323128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complete trisomy 21 syndrome PMID:28492532|PMID:30311386 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:14791 Leber congenital amaurosis ISO RGD:1323128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:26633542|PMID:28492532|PMID:31630094|PMID:31755649|PMID:32531870 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1323128 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:15689433|PMID:17594715|PMID:24400638|PMID:25741868|PMID:28492532 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:543 dystonia ISO RGD:1323128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:630 genetic disease ISO RGD:1323128 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11941369|PMID:11941370|PMID:17576681|PMID:17594715|PMID:21897446|PMID:25741868|PMID:25846608|PMID:26111748|PMID:26704672|PMID:28492532|PMID:29302074|PMID:29718281|PMID:30064963|PMID:30488743|PMID:31106028|PMID:9536098 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:783 end stage renal disease ISO RGD:1323128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stage 5 chronic kidney disease PMID:17594715|PMID:24462884|PMID:25296579|PMID:25741868|PMID:26066530|PMID:26104972|PMID:27178444|PMID:28492532|PMID:32581362 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:8501 fundus dystrophy ISO RGD:1323128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11941369|PMID:11941370|PMID:15689433|PMID:16720663|PMID:17594715|PMID:21157496|PMID:21897446|PMID:22555271|PMID:23847139|PMID:24595103|PMID:25706677|PMID:25741868|PMID:25846608|PMID:28041643|PMID:28492532|PMID:30064963|PMID:31810438|PMID:32349990|PMID:32944671 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:9000343 Vision Disorders ISO RGD:1323128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:17594715|PMID:24462884|PMID:25296579|PMID:25741868|PMID:26066530|PMID:26104972|PMID:27178444|PMID:28492532|PMID:32581362 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1323128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:9004538 Hearing Loss ISO RGD:1323128 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:17594715|PMID:24462884|PMID:25296579|PMID:25741868|PMID:26066530|PMID:26104972|PMID:27178444|PMID:28492532|PMID:30311386|PMID:32581362 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:9008296 Eye Abnormalities ISO RGD:1323128 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:9008818 Retinal Dystrophy, Early Onset Severe ISO RGD:1323128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy, early-onset severe PMID:17594715|PMID:18414213|PMID:22876109|PMID:25741868|PMID:25846608|PMID:26704672|PMID:28112973|PMID:28432734|PMID:28492532|PMID:29718281 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:9351 diabetes mellitus ISO RGD:1323128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:18154657|PMID:21157496|PMID:21943378|PMID:22876109|PMID:24033266|PMID:24503146|PMID:24830966|PMID:25296579|PMID:25533962|PMID:25741868|PMID:25846608|PMID:26082521|PMID:26104972|PMID:26239645|PMID:26283575|PMID:26467025|PMID:26636822|PMID:27178444|PMID:28432734|PMID:28492532|PMID:28502102|PMID:28717663|PMID:29610177 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:9351 diabetes mellitus ISO RGD:1323128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:18154657|PMID:21157496|PMID:21943378|PMID:22876109|PMID:24033266|PMID:24503146|PMID:24830966|PMID:25296579|PMID:25533962|PMID:25741868|PMID:25846608|PMID:26082521|PMID:26104972|PMID:26239645|PMID:26283575|PMID:26467025|PMID:26636822|PMID:27178444|PMID:28432734|PMID:28492532|PMID:28502102|PMID:28717663|PMID:29610177|PMID:30421101|PMID:32746448|PMID:33669459|PMID:34148947 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1323128 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1320374, rs1881245, rs3820700 (human) PMID:16601972|REF_RGD_ID:8696017 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:9970 obesity ISO RGD:1616534 D RGD:9068941 20220825 MouseDO OMIM:601665 11671200 THUMPD1 THUMP domain containing 1 gene DOID:630 genetic disease ISO RGD:1318865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11671200 THUMPD1 THUMP domain containing 1 gene DOID:9004131 NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES ISO RGD:1318865 D RGD:7240710 20221221 OMIM 11671200 THUMPD1 THUMP domain containing 1 gene DOID:9004131 NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES ISO RGD:1318865 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with speech delay and variable ocular anomalies PMID:25741868|PMID:30237576|PMID:35196516 11671200 THUMPD1 THUMP domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318865 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30237576|PMID:35196516 11671208 NUDT3 nudix hydrolase 3 gene DOID:0050553 JMP syndrome ISO RGD:1320933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11671208 NUDT3 nudix hydrolase 3 gene DOID:630 genetic disease ISO RGD:1320933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11671217 SOHLH2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 gene DOID:630 genetic disease ISO RGD:1603036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11671233 PEX19 peroxisomal biogenesis factor 19 gene DOID:0060178 familial hemiplegic migraine ISO RGD:1315796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 11671233 PEX19 peroxisomal biogenesis factor 19 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1315796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20683989 11671233 PEX19 peroxisomal biogenesis factor 19 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1315796 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) PMID:28492532 11671233 PEX19 peroxisomal biogenesis factor 19 gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:1315796 D RGD:7240710 20180130 OMIM 11671233 PEX19 peroxisomal biogenesis factor 19 gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:1315796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) PMID:10051604|PMID:16199547|PMID:17576681|PMID:20683989|PMID:21031596|PMID:25741868|PMID:28281558|PMID:28492532|PMID:30561787|PMID:33798445|PMID:9536098 11671233 PEX19 peroxisomal biogenesis factor 19 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1315796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11671233 PEX19 peroxisomal biogenesis factor 19 gene DOID:1540 parathyroid carcinoma ISO RGD:1315796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11671233 PEX19 peroxisomal biogenesis factor 19 gene DOID:630 genetic disease ISO RGD:1315796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11671233 PEX19 peroxisomal biogenesis factor 19 gene DOID:905 Zellweger syndrome ISO RGD:1315796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10051604 11671233 PEX19 peroxisomal biogenesis factor 19 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11671283 PHB1 prohibitin 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 11671283 PHB1 prohibitin 1 gene DOID:11054 urinary bladder cancer ISO RGD:3322 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:8062216|REF_RGD_ID:2292407 11671283 PHB1 prohibitin 1 gene DOID:1612 breast cancer ISO RGD:736948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to PMID:11377649|PMID:8809404 11671283 PHB1 prohibitin 1 gene DOID:1612 breast cancer no_association ISO RGD:736948 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1703C>T PMID:14652295|REF_RGD_ID:2292402 11671283 PHB1 prohibitin 1 gene DOID:1612 breast cancer susceptibility ISO RGD:736948 D RGD:7240710 20230505 OMIM 11671283 PHB1 prohibitin 1 gene DOID:2394 ovarian cancer ISO RGD:736948 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 11671283 PHB1 prohibitin 1 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:736948 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:17465217|REF_RGD_ID:2292396 11671283 PHB1 prohibitin 1 gene DOID:299 adenocarcinoma ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 11671283 PHB1 prohibitin 1 gene DOID:305 carcinoma ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11671283 PHB1 prohibitin 1 gene DOID:5419 schizophrenia ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18504422 11671283 PHB1 prohibitin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11671283 PHB1 prohibitin 1 gene DOID:8029 sporadic breast cancer ISO RGD:736948 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity, mutations: :multiple PMID:1540973|REF_RGD_ID:2292408 11671283 PHB1 prohibitin 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:736948 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland PMID:18384941|REF_RGD_ID:2292382 11671283 PHB1 prohibitin 1 gene DOID:8646 substance-induced psychosis ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18504422 11671283 PHB1 prohibitin 1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:736948 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:16426920|REF_RGD_ID:2292398 11671283 PHB1 prohibitin 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 11671283 PHB1 prohibitin 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696|PMID:21364753 11671283 PHB1 prohibitin 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11671283 PHB1 prohibitin 1 gene DOID:9000784 Fibrosis ISO RGD:736948 D RGD:9068941 20200609 RGD associated with Glomerulonephritis;protein:decreased expression:kidney, epithelial cell PMID:17043753|REF_RGD_ID:2292410 11671283 PHB1 prohibitin 1 gene DOID:9000918 Disease Progression ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11671283 PHB1 prohibitin 1 gene DOID:9000998 Brain Injuries ISO RGD:3322 D RGD:9068941 20200609 RGD protein:increased oxidation:cerebral cortex PMID:17518533|REF_RGD_ID:2292409 11671283 PHB1 prohibitin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736948 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland PMID:18384941|REF_RGD_ID:2292382 11671283 PHB1 prohibitin 1 gene DOID:9002762 Ovarian Neoplasms no_association ISO RGD:736948 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1703C>T PMID:12821355|REF_RGD_ID:2292403 11671283 PHB1 prohibitin 1 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:736948 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:16426920|REF_RGD_ID:2292398 11671283 PHB1 prohibitin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3322 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:mammary gland PMID:12376462|REF_RGD_ID:2292404 11671283 PHB1 prohibitin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11671283 PHB1 prohibitin 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:736948 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:10421803|REF_RGD_ID:2292406 11671283 PHB1 prohibitin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11671300 RPS2 ribosomal protein S2 gene DOID:0060224 atrial fibrillation ISO RGD:732314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 11671300 RPS2 ribosomal protein S2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:732314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 11671300 RPS2 ribosomal protein S2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:732314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11671300 RPS2 ribosomal protein S2 gene DOID:1826 epilepsy ISO RGD:732314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11671300 RPS2 ribosomal protein S2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:732314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11671300 RPS2 ribosomal protein S2 gene DOID:630 genetic disease ISO RGD:732314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11671300 RPS2 ribosomal protein S2 gene DOID:9002669 Hypoxia ISO RGD:732314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18258771 11671310 PRAC1 PRAC1 small nuclear protein gene DOID:630 genetic disease ISO RGD:1601838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11671317 PLEC plectin gene DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ISO RGD:731690 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia 11671317 PLEC plectin gene DOID:0060736 epidermolysis bullosa simplex Ogna type ISO RGD:731690 D RGD:7240710 20180130 OMIM 11671317 PLEC plectin gene DOID:0060736 epidermolysis bullosa simplex Ogna type ISO RGD:731690 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:11851880|PMID:15206692|PMID:15810881|PMID:18414213|PMID:20016501|PMID:20301336|PMID:22854623|PMID:22864774|PMID:23757202|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28400893|PMID:28492532|PMID:29334134|PMID:29453417|PMID:32017015 11671317 PLEC plectin gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:731690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11671317 PLEC plectin gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731690 D RGD:7240710 20180130 OMIM 11671317 PLEC plectin gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:10446808|PMID:10652002|PMID:11851880|PMID:12071635|PMID:15654962|PMID:15659326|PMID:15810881|PMID:17576681|PMID:18414213|PMID:19945614|PMID:20016501|PMID:20301336|PMID:20447487|PMID:20665883|PMID:21109228|PMID:21263134|PMID:22854623|PMID:22864774|PMID:23289980|PMID:23757202|PMID:23774525|PMID:24033266|PMID:24253200|PMID:25640679|PMID:25741868|PMID:25987458|PMID:26467025|PMID:27392081|PMID:27813154|PMID:28400893|PMID:28492532|PMID:28824526|PMID:28830826|PMID:29050564|PMID:29334134|PMID:29352809|PMID:29453417|PMID:29797489|PMID:30293987|PMID:30919572|PMID:31319225|PMID:31513275|PMID:31517061|PMID:31641117|PMID:32017015|PMID:8696340|PMID:8830774|PMID:8894687|PMID:9536098 11671317 PLEC plectin gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731690 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:10446808|PMID:10652002|PMID:11851880|PMID:12071635|PMID:15654962|PMID:15659326|PMID:15810881|PMID:17576681|PMID:18414213|PMID:19945614|PMID:20016501|PMID:20052759|PMID:20301336|PMID:20447487|PMID:20665883|PMID:21109228|PMID:21263134|PMID:22854623|PMID:22864774|PMID:23289980|PMID:23757202|PMID:23774525|PMID:24033266|PMID:24253200|PMID:25640679|PMID:25741868|PMID:25987458|PMID:26467025|PMID:27392081|PMID:27813154|PMID:28400893|PMID:28492532|PMID:28824526|PMID:28830826|PMID:29050564|PMID:29334134|PMID:29352809|PMID:29453417|PMID:29797489|PMID:30919572|PMID:31319225|PMID:31517061|PMID:31641117|PMID:32017015|PMID:8696340|PMID:8830774|PMID:8894687|PMID:9536098 11671317 PLEC plectin gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731690 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:10446808|PMID:10652002|PMID:11851880|PMID:12071635|PMID:15206692|PMID:15654962|PMID:15659326|PMID:15810881|PMID:17576681|PMID:18414213|PMID:19945614|PMID:20016501|PMID:20052759|PMID:20301336|PMID:20447487|PMID:20665883|PMID:21109228|PMID:21263134|PMID:22854623|PMID:22864774|PMID:23289980|PMID:23757202|PMID:23774525|PMID:24033266|PMID:24253200|PMID:25640679|PMID:25741868|PMID:25987458|PMID:26467025|PMID:27392081|PMID:27813154|PMID:28400893|PMID:28447722|PMID:28492532|PMID:28824526|PMID:28830826|PMID:29050564|PMID:29334134|PMID:29352809|PMID:29453417|PMID:29797489|PMID:30919572|PMID:31319225|PMID:31517061|PMID:31641117|PMID:32017015|PMID:32725257|PMID:34572129|PMID:8696340|PMID:8830774|PMID:8894687|PMID:9536098 11671317 PLEC plectin gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731690 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:10446808|PMID:10652002|PMID:11851880|PMID:12071635|PMID:15206692|PMID:15654962|PMID:15659326|PMID:15810881|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19945614|PMID:20016501|PMID:20052759|PMID:20301336|PMID:20447487|PMID:20665883|PMID:21109228|PMID:21263134|PMID:22854623|PMID:22864774|PMID:23289980|PMID:23757202|PMID:23774525|PMID:24033266|PMID:24253200|PMID:25640679|PMID:25741868|PMID:25987458|PMID:26467025|PMID:27392081|PMID:27813154|PMID:28400893|PMID:28447722|PMID:28492532|PMID:28824526|PMID:28830826|PMID:29050564|PMID:29334134|PMID:29352809|PMID:29453417|PMID:30293987|PMID:30691450|PMID:30919572|PMID:31001817|PMID:31066050|PMID:31230720|PMID:31319225|PMID:31509265|PMID:31513275|PMID:31517061|PMID:31641117|PMID:32017015|PMID:32576226|PMID:32707200|PMID:32725257|PMID:34572129|PMID:8696340|PMID:8830774|PMID:8894687|PMID:9536098|PMID:9886273 11671317 PLEC plectin gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:731690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 PMID:25741868|PMID:26467025|PMID:28492532 11671317 PLEC plectin gene DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q ISO RGD:731690 D RGD:7240710 20180130 OMIM 11671317 PLEC plectin gene DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q ISO RGD:731690 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17 PMID:10652002|PMID:11851880|PMID:15206692|PMID:15810881|PMID:17576681|PMID:20301336|PMID:20447487|PMID:21109228|PMID:22854623|PMID:23289980|PMID:23757202|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28447722|PMID:28492532|PMID:28824526|PMID:29453417|PMID:30919572|PMID:31230720|PMID:31319225|PMID:32017015|PMID:34572129|PMID:9536098 11671317 PLEC plectin gene DOID:423 myopathy ISO RGD:731690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868|PMID:28400893 11671317 PLEC plectin gene DOID:4621 holoprosencephaly ISO RGD:731690 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11671317 PLEC plectin gene DOID:4644 epidermolysis bullosa simplex ISO RGD:731690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex PMID:11851880|PMID:23289980|PMID:25741868|PMID:28492532 11671317 PLEC plectin gene DOID:630 genetic disease ISO RGD:731690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 11671317 PLEC plectin gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:731690 D RGD:7240710 20180130 OMIM 11671317 PLEC plectin gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:731690 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:11851880|PMID:15206692|PMID:15659326|PMID:15810881|PMID:20301336|PMID:20447487|PMID:21109228|PMID:21263134|PMID:22854623|PMID:23289980|PMID:23757202|PMID:24033266|PMID:25712130|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28824526|PMID:28830826|PMID:29453417|PMID:32017015|PMID:32725257 11671317 PLEC plectin gene DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia ISO RGD:731690 D RGD:7240710 20180130 OMIM 11671317 PLEC plectin gene DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia ISO RGD:731690 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5C, with pyloric atresia | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:11851880|PMID:14675180|PMID:15206692|PMID:15654962|PMID:15681471|PMID:15810881|PMID:20301336|PMID:22854623|PMID:23757202|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29453417|PMID:32017015 11671317 PLEC plectin gene DOID:9005992 Rothmund-Thomson Syndrome Type 2 ISO RGD:731690 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rothmund-Thomson syndrome type 2 PMID:25741868|PMID:28492532 11671355 CSDE1 cold shock domain containing E1 gene DOID:0080690 RASopathy ISO RGD:1607084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11671355 CSDE1 cold shock domain containing E1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1607084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 11671355 CSDE1 cold shock domain containing E1 gene DOID:630 genetic disease ISO RGD:1607084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11671395 UXS1 UDP-glucuronate decarboxylase 1 gene DOID:630 genetic disease ISO RGD:735996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11671395 UXS1 UDP-glucuronate decarboxylase 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:735996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 11671420 ODAPH odontogenesis associated phosphoprotein gene DOID:0110062 amelogenesis imperfecta hypomaturation type 2A4 ISO RGD:1604986 D RGD:7240710 20180130 OMIM 11671420 ODAPH odontogenesis associated phosphoprotein gene DOID:0110062 amelogenesis imperfecta hypomaturation type 2A4 ISO RGD:1604986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A4 PMID:22901946 11671420 ODAPH odontogenesis associated phosphoprotein gene DOID:891 progressive myoclonus epilepsy ISO RGD:1604986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 11671420 ODAPH odontogenesis associated phosphoprotein gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1604986 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11671435 PRUNE1 prune exopolyphosphatase 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1350944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11671435 PRUNE1 prune exopolyphosphatase 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1350944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11671435 PRUNE1 prune exopolyphosphatase 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1350944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11671435 PRUNE1 prune exopolyphosphatase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1350944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11671435 PRUNE1 prune exopolyphosphatase 1 gene DOID:5812 MHC class II deficiency ISO RGD:1350944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11671435 PRUNE1 prune exopolyphosphatase 1 gene DOID:630 genetic disease ISO RGD:1350944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11671435 PRUNE1 prune exopolyphosphatase 1 gene DOID:9005194 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES ISO RGD:1350944 D RGD:7240710 20190315 OMIM 11671435 PRUNE1 prune exopolyphosphatase 1 gene DOID:9005194 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES ISO RGD:1350944 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies PMID:25741868|PMID:26539891|PMID:28211990|PMID:28334956|PMID:28492532|PMID:29797509|PMID:29940663|PMID:30556349|PMID:33105479 11671435 PRUNE1 prune exopolyphosphatase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11671466 CCDC40 coiled-coil domain containing 40 gene DOID:0050144 Kartagener syndrome ISO RGD:1605992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:16199547|PMID:21131974|PMID:22693285|PMID:23255504|PMID:25741868|PMID:28492532|PMID:31213628|PMID:31443223|PMID:31650533|PMID:31772028|PMID:31879361 11671466 CCDC40 coiled-coil domain containing 40 gene DOID:0050545 visceral heterotaxy ISO RGD:1605992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Situs ambiguus 11671466 CCDC40 coiled-coil domain containing 40 gene DOID:0060041 autism spectrum disorder ISO RGD:1605992 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11671466 CCDC40 coiled-coil domain containing 40 gene DOID:0110623 primary ciliary dyskinesia 15 ISO RGD:1605992 D RGD:7240710 20180130 OMIM 11671466 CCDC40 coiled-coil domain containing 40 gene DOID:0110623 primary ciliary dyskinesia 15 ISO RGD:1605992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 15 PMID:16199547|PMID:17576681|PMID:21131974|PMID:22499950|PMID:22693285|PMID:23255504|PMID:23261302|PMID:23891469|PMID:24033266|PMID:25326637|PMID:25619595|PMID:25741868|PMID:25877373|PMID:26228299|PMID:28492532|PMID:30067075|PMID:31213628|PMID:31443223|PMID:31507630|PMID:31589614|PMID:31650533|PMID:31772028|PMID:31879361|PMID:31980526|PMID:9536098 11671466 CCDC40 coiled-coil domain containing 40 gene DOID:12336 male infertility ISO RGD:1605992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility PMID:24033266|PMID:25741868|PMID:28492532 11671466 CCDC40 coiled-coil domain containing 40 gene DOID:2752 glycogen storage disease II ISO RGD:1605992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:18414213|PMID:23757202|PMID:24033266|PMID:25741868|PMID:28492532 11671466 CCDC40 coiled-coil domain containing 40 gene DOID:630 genetic disease ISO RGD:1605992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11671466 CCDC40 coiled-coil domain containing 40 gene DOID:758 situs inversus ISO RGD:1605992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence 11671466 CCDC40 coiled-coil domain containing 40 gene DOID:9001828 Cardiac Form of Generalized Glycogenosis ISO RGD:1605992 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa PMID:18414213|PMID:23757202|PMID:24033266|PMID:25741868|PMID:28492532 11671466 CCDC40 coiled-coil domain containing 40 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1605992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 11671466 CCDC40 coiled-coil domain containing 40 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:18414213|PMID:21131974|PMID:22499950|PMID:22693285|PMID:23255504|PMID:23261302|PMID:23757202|PMID:23891469|PMID:24033266|PMID:24498942|PMID:24518672|PMID:25326637|PMID:25619595|PMID:25741868|PMID:25877373|PMID:26228299|PMID:28492532|PMID:30067075|PMID:31213628|PMID:31443223|PMID:31507630|PMID:31589614|PMID:31650533|PMID:31765523|PMID:31772028|PMID:31879361|PMID:31980526|PMID:32502479|PMID:9536098 11671494 MED9 mediator complex subunit 9 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1349775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 11671494 MED9 mediator complex subunit 9 gene DOID:0050777 Joubert syndrome ISO RGD:1349775 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11671494 MED9 mediator complex subunit 9 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1349775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 11671494 MED9 mediator complex subunit 9 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1349775 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 11671494 MED9 mediator complex subunit 9 gene DOID:12849 autistic disorder ISO RGD:1349775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11671494 MED9 mediator complex subunit 9 gene DOID:630 genetic disease ISO RGD:1349775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11671500 PRICKLE4 prickle planar cell polarity protein 4 gene DOID:0050444 infantile Refsum disease ISO RGD:1347495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11671500 PRICKLE4 prickle planar cell polarity protein 4 gene DOID:630 genetic disease ISO RGD:1347495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11671500 PRICKLE4 prickle planar cell polarity protein 4 gene DOID:905 Zellweger syndrome ISO RGD:1347495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11671520 ENGASE endo-beta-N-acetylglucosaminidase gene DOID:630 genetic disease ISO RGD:1601977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11671520 ENGASE endo-beta-N-acetylglucosaminidase gene DOID:9212 pityriasis rubra pilaris ISO RGD:1601977 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 11671547 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:0060041 autism spectrum disorder ISO RGD:1315674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11671547 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1315674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11671547 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1315674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 11671547 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:0110266 cataract 9 multiple types ISO RGD:1315674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11671547 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:12849 autistic disorder ISO RGD:1315674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11671547 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:574 peripheral nervous system disease ISO RGD:1315674 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 11671547 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:630 genetic disease ISO RGD:1315674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:28633435|PMID:32202298|PMID:9536098 11671547 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:870 neuropathy ISO RGD:1315674 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 11671547 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:891 progressive myoclonus epilepsy ISO RGD:1315674 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11671547 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:9002421 Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development ISO RGD:1315674 D RGD:7240710 20190315 OMIM 11671547 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:9002421 Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development ISO RGD:1315674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development PMID:17576681|PMID:25741868|PMID:28492532|PMID:28633435|PMID:28969388|PMID:29982295|PMID:32202298|PMID:9536098 11671547 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:9263 homocystinuria ISO RGD:1315674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11671547 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:1315674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11671580 STX7 syntaxin 7 gene DOID:630 genetic disease ISO RGD:737314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11671597 DRAM2 DNA damage regulated autophagy modulator 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1604537 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11671597 DRAM2 DNA damage regulated autophagy modulator 2 gene DOID:12849 autistic disorder ISO RGD:1604537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11671597 DRAM2 DNA damage regulated autophagy modulator 2 gene DOID:630 genetic disease ISO RGD:1604537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11671597 DRAM2 DNA damage regulated autophagy modulator 2 gene DOID:8501 fundus dystrophy ISO RGD:1604537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25983245|PMID:28492532 11671597 DRAM2 DNA damage regulated autophagy modulator 2 gene DOID:9005737 Cone-Rod Dystrophy 21 ISO RGD:1604537 D RGD:7240710 20180130 OMIM 11671597 DRAM2 DNA damage regulated autophagy modulator 2 gene DOID:9005737 Cone-Rod Dystrophy 21 ISO RGD:1604537 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 21 PMID:25741868|PMID:25983245|PMID:28492532 11671624 SRA1 steroid receptor RNA activator 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1353576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11671624 SRA1 steroid receptor RNA activator 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353576 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11671624 SRA1 steroid receptor RNA activator 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1353576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11671624 SRA1 steroid receptor RNA activator 1 gene DOID:3614 Kallmann syndrome ISO RGD:1353576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadism with anosmia 11671624 SRA1 steroid receptor RNA activator 1 gene DOID:6000 congestive heart failure severity ISO RGD:1353576 D RGD:9068941 20230401 RGD associated with ischemic cardiomyopathy; RNA:increased expression:heart left ventricle (human) PMID:27317124|REF_RGD_ID:243048444 11671624 SRA1 steroid receptor RNA activator 1 gene DOID:630 genetic disease ISO RGD:1353576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11671624 SRA1 steroid receptor RNA activator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11671624 SRA1 steroid receptor RNA activator 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353576 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11671632 SFT2D2 SFT2 domain containing 2 gene DOID:0111942 immunodeficiency 25 ISO RGD:1605217 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 11671632 SFT2D2 SFT2 domain containing 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1605217 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11671632 SFT2D2 SFT2 domain containing 2 gene DOID:630 genetic disease ISO RGD:1605217 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11671632 SFT2D2 SFT2 domain containing 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605217 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11671662 ACP7 acid phosphatase 7, tartrate resistant (putative) gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1604436 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11671662 ACP7 acid phosphatase 7, tartrate resistant (putative) gene DOID:630 genetic disease ISO RGD:1604436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11671662 ACP7 acid phosphatase 7, tartrate resistant (putative) gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604436 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11671679 LOC100977711 olfactory receptor 51D1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1344581 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11671679 LOC100977711 olfactory receptor 51D1 gene DOID:630 genetic disease ISO RGD:1344581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11671682 ATP10A ATPase phospholipid transporting 10A (putative) gene DOID:0060041 autism spectrum disorder ISO RGD:1314601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545|PMID:30504930 11671682 ATP10A ATPase phospholipid transporting 10A (putative) gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1314601 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 11671682 ATP10A ATPase phospholipid transporting 10A (putative) gene DOID:11983 Prader-Willi syndrome ISO RGD:1314601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 11671682 ATP10A ATPase phospholipid transporting 10A (putative) gene DOID:12849 autistic disorder ISO RGD:1314601 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 11671682 ATP10A ATPase phospholipid transporting 10A (putative) gene DOID:1932 Angelman syndrome ISO RGD:1314601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:12210318|PMID:18821858|PMID:22190369|PMID:23495136|PMID:24088041|PMID:25099823|PMID:25212744|PMID:25884337|PMID:26633545|PMID:28492532 11671682 ATP10A ATPase phospholipid transporting 10A (putative) gene DOID:5419 schizophrenia ISO RGD:1314601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11671682 ATP10A ATPase phospholipid transporting 10A (putative) gene DOID:630 genetic disease ISO RGD:1314601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11671682 ATP10A ATPase phospholipid transporting 10A (putative) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11671682 ATP10A ATPase phospholipid transporting 10A (putative) gene DOID:9009060 Childhood Absence Epilepsy 1 ISO RGD:1314601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 PMID:11198279|PMID:26950270|PMID:28053010|PMID:28492532 11671706 BRAT1 BRCA1 associated ATM activator 1 gene DOID:0080422 Dravet syndrome ISO RGD:1318809 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:22279524|PMID:25500575|PMID:25741868|PMID:28492532|PMID:29390993 11671706 BRAT1 BRCA1 associated ATM activator 1 gene DOID:0090031 D-bifunctional protein deficiency ISO RGD:1318809 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: DBP deficiency PMID:16385454|PMID:22279524|PMID:23035047|PMID:28492532 11671706 BRAT1 BRCA1 associated ATM activator 1 gene DOID:0111957 immunodeficiency 11A ISO RGD:1318809 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency PMID:28492532 11671706 BRAT1 BRCA1 associated ATM activator 1 gene DOID:0112361 spondylocostal dysostosis 3 ISO RGD:1318809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 3, autosomal recessive PMID:28492532 11671706 BRAT1 BRCA1 associated ATM activator 1 gene DOID:1059 intellectual disability ISO RGD:1318809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:26467025|PMID:28492532 11671706 BRAT1 BRCA1 associated ATM activator 1 gene DOID:1826 epilepsy ISO RGD:1318809 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11671706 BRAT1 BRCA1 associated ATM activator 1 gene DOID:308 early myoclonic encephalopathy ISO RGD:1318809 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:22279524|PMID:25500575|PMID:25741868|PMID:28492532|PMID:29390993 11671706 BRAT1 BRCA1 associated ATM activator 1 gene DOID:630 genetic disease ISO RGD:1318809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:16452482|PMID:17576681|PMID:22279524|PMID:23035047|PMID:25500575|PMID:25741868|PMID:26467025|PMID:26483087|PMID:26494257|PMID:26535877|PMID:26870756|PMID:26947546|PMID:27282546|PMID:27282648|PMID:27480663|PMID:28492532|PMID:28635423|PMID:28752061|PMID:30552426|PMID:31345272|PMID:32565546|PMID:32964447|PMID:9536098 11671706 BRAT1 BRCA1 associated ATM activator 1 gene DOID:9003268 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal ISO RGD:1318809 D RGD:7240710 20180130 OMIM 11671706 BRAT1 BRCA1 associated ATM activator 1 gene DOID:9003268 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal ISO RGD:1318809 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal PMID:16199547|PMID:16452482|PMID:17576681|PMID:22279524|PMID:23035047|PMID:25319849|PMID:25500575|PMID:25741868|PMID:26467025|PMID:26483087|PMID:26494257|PMID:26535877|PMID:26870756|PMID:26947546|PMID:26964041|PMID:27282546|PMID:27282648|PMID:27480663|PMID:28492532|PMID:28635423|PMID:28752061|PMID:29375859|PMID:29390993|PMID:29431110|PMID:29997391|PMID:30346566|PMID:30552426|PMID:31345272|PMID:31618474|PMID:31868227|PMID:32139178|PMID:32565546|PMID:32964447|PMID:9536098 11671706 BRAT1 BRCA1 associated ATM activator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318809 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:16199547|PMID:22279524|PMID:25500575|PMID:25741868|PMID:28492532 11671706 BRAT1 BRCA1 associated ATM activator 1 gene DOID:9009220 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES ISO RGD:1318809 D RGD:7240710 20190315 OMIM 11671706 BRAT1 BRCA1 associated ATM activator 1 gene DOID:9009220 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES ISO RGD:1318809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BRAT1-associated neurodegenerative disorder | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures PMID:16452482|PMID:22279524|PMID:25500575|PMID:25741868|PMID:26467025|PMID:26483087|PMID:26494257|PMID:26535877|PMID:26947546|PMID:26964041|PMID:27282546|PMID:27282648|PMID:27480663|PMID:28492532|PMID:28635423|PMID:28752061|PMID:29375859|PMID:30552426|PMID:31345272|PMID:32964447 11671745 SPINDOC spindlin interactor and repressor of chromatin binding gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1604233 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11671745 SPINDOC spindlin interactor and repressor of chromatin binding gene DOID:1059 intellectual disability ISO RGD:1604233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11671745 SPINDOC spindlin interactor and repressor of chromatin binding gene DOID:3070 high grade glioma ISO RGD:1604233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11671767 ATP6V1A ATPase H+ transporting V1 subunit A gene DOID:0070129 autosomal recessive cutis laxa type IID ISO RGD:1323585 D RGD:7240710 20190315 OMIM 11671767 ATP6V1A ATPase H+ transporting V1 subunit A gene DOID:0070129 autosomal recessive cutis laxa type IID ISO RGD:1323585 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID PMID:24459010|PMID:25741868|PMID:28065471|PMID:28492532 11671767 ATP6V1A ATPase H+ transporting V1 subunit A gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1323585 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:25741868 11671767 ATP6V1A ATPase H+ transporting V1 subunit A gene DOID:0112275 developmental and epileptic encephalopathy 93 ISO RGD:1323585 D RGD:7240710 20190315 OMIM 11671767 ATP6V1A ATPase H+ transporting V1 subunit A gene DOID:0112275 developmental and epileptic encephalopathy 93 ISO RGD:1323585 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 | ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood, 3 PMID:23334411|PMID:25741868|PMID:28492532|PMID:29668857|PMID:35675510 11671767 ATP6V1A ATPase H+ transporting V1 subunit A gene DOID:630 genetic disease ISO RGD:1323585 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23334411|PMID:25741868|PMID:28492532|PMID:29668857 11671767 ATP6V1A ATPase H+ transporting V1 subunit A gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1323585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 11671767 ATP6V1A ATPase H+ transporting V1 subunit A gene DOID:9008582 Developmental Disease ISO RGD:1323585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11671767 ATP6V1A ATPase H+ transporting V1 subunit A gene DOID:936 brain disease ISO RGD:1323585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868 11671786 YIPF1 Yip1 domain family member 1 gene DOID:630 genetic disease ISO RGD:1604013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11671815 UBE2D2 ubiquitin conjugating enzyme E2 D2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:69475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11671815 UBE2D2 ubiquitin conjugating enzyme E2 D2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:69475 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11671815 UBE2D2 ubiquitin conjugating enzyme E2 D2 gene DOID:630 genetic disease ISO RGD:69475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11671815 UBE2D2 ubiquitin conjugating enzyme E2 D2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11671815 UBE2D2 ubiquitin conjugating enzyme E2 D2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69475 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11671833 DOP1B DOP1 leucine zipper like protein B gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1314515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11671833 DOP1B DOP1 leucine zipper like protein B gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1314515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11671833 DOP1B DOP1 leucine zipper like protein B gene DOID:10126 keratoconus ISO RGD:1314515 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratoconus 11671833 DOP1B DOP1 leucine zipper like protein B gene DOID:630 genetic disease ISO RGD:1314515 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11671833 DOP1B DOP1 leucine zipper like protein B gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1314515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 11671877 SUSD3 sushi domain containing 3 gene DOID:630 genetic disease ISO RGD:1322117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11671889 TXNDC8 thioredoxin domain containing 8 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1345541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:28492532 11671889 TXNDC8 thioredoxin domain containing 8 gene DOID:12336 male infertility ISO RGD:1345541 D RGD:9068941 20200609 RGD protein:increased expression:sperm (human) PMID:15181017|REF_RGD_ID:1303999 11671889 TXNDC8 thioredoxin domain containing 8 gene DOID:630 genetic disease ISO RGD:1345541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11671903 GPR19 G protein-coupled receptor 19 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1344105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 11671903 GPR19 G protein-coupled receptor 19 gene DOID:0080137 multiple endocrine neoplasia type 4 ISO RGD:1344105 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia type 4 PMID:28492532 11671903 GPR19 G protein-coupled receptor 19 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1344105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 11671903 GPR19 G protein-coupled receptor 19 gene DOID:630 genetic disease ISO RGD:1344105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11671916 UNC119 unc-119 lipid binding chaperone gene DOID:0050572 cone-rod dystrophy ISO RGD:1343859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:11006213|PMID:22184408|PMID:24033266|PMID:25741868|PMID:28492532 11671916 UNC119 unc-119 lipid binding chaperone gene DOID:0111987 immunodeficiency 13 ISO RGD:1343859 D RGD:7240710 20200826 OMIM 11671916 UNC119 unc-119 lipid binding chaperone gene DOID:0111987 immunodeficiency 13 ISO RGD:1343859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 13 PMID:22184408|PMID:24033266|PMID:25741868|PMID:28492532 11671916 UNC119 unc-119 lipid binding chaperone gene DOID:10584 retinitis pigmentosa ISO RGD:1343859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11006213 11671916 UNC119 unc-119 lipid binding chaperone gene DOID:3109 idiopathic CD4-positive T-lymphocytopenia ISO RGD:1343859 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IDIOPATHIC CD4 LYMPHOPENIA PMID:22184408|PMID:24033266|PMID:25741868|PMID:28492532 11671916 UNC119 unc-119 lipid binding chaperone gene DOID:4448 macular degeneration ISO RGD:1343859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:26992781|PMID:35947183 11671916 UNC119 unc-119 lipid binding chaperone gene DOID:630 genetic disease ISO RGD:1343859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11671916 UNC119 unc-119 lipid binding chaperone gene DOID:9005636 Cone-Rod Dystrophy 24 ISO RGD:1343859 D RGD:7240710 20230505 OMIM 11671916 UNC119 unc-119 lipid binding chaperone gene DOID:9005636 Cone-Rod Dystrophy 24 ISO RGD:1343859 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 24 PMID:11006213|PMID:26992781|PMID:28492532|PMID:35947183 11671924 LIPG lipase G, endothelial type gene DOID:1059 intellectual disability ISO RGD:1321819 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11671924 LIPG lipase G, endothelial type gene DOID:10763 hypertension ISO RGD:1310740 D RGD:9068941 20200609 RGD PMID:15914124|REF_RGD_ID:1581875 11671924 LIPG lipase G, endothelial type gene DOID:1287 cardiovascular system disease ISO RGD:1321819 D RGD:9068941 20200609 RGD PMID:16023652|REF_RGD_ID:1580864 11671924 LIPG lipase G, endothelial type gene DOID:2349 arteriosclerosis ISO RGD:1321820 D RGD:9068941 20200609 RGD PMID:15304490|REF_RGD_ID:1581874 11671924 LIPG lipase G, endothelial type gene DOID:3393 coronary artery disease ISO RGD:1321819 D RGD:9068941 20200609 RGD PMID:16354105|REF_RGD_ID:1580865 11671924 LIPG lipase G, endothelial type gene DOID:3526 cerebral infarction susceptibility ISO RGD:1321819 D RGD:9068941 20200609 RGD DNA:polymorphism: :584C>T (human) PMID:17016617|REF_RGD_ID:1601237 11671924 LIPG lipase G, endothelial type gene DOID:5844 myocardial infarction susceptibility ISO RGD:1321819 D RGD:9068941 20200609 RGD DNA:polymorphism: :584C>T (human) PMID:17526978|REF_RGD_ID:1641818 11671924 LIPG lipase G, endothelial type gene DOID:630 genetic disease ISO RGD:1321819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11671924 LIPG lipase G, endothelial type gene DOID:9006646 Metabolic Syndrome ISO RGD:1321819 D RGD:9068941 20200609 RGD PMID:16354105|REF_RGD_ID:1580865 11671924 LIPG lipase G, endothelial type gene DOID:9970 obesity ISO RGD:1321819 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16772345|REF_RGD_ID:1641819 11671957 CCDC127 coiled-coil domain containing 127 gene DOID:630 genetic disease ISO RGD:1603363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11671964 STX10 syntaxin 10 gene DOID:0050858 Marshall-Smith syndrome ISO RGD:1353548 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marshall-Smith syndrome PMID:20673863|PMID:23495138|PMID:25118028|PMID:25736188|PMID:26927468|PMID:27688808|PMID:28492532|PMID:29184170 11671964 STX10 syntaxin 10 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1353548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532|PMID:29184170 11671964 STX10 syntaxin 10 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1353548 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11671964 STX10 syntaxin 10 gene DOID:0111254 glutaric acidemia I ISO RGD:1353548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11671964 STX10 syntaxin 10 gene DOID:3413 alpha-mannosidosis ISO RGD:1353548 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11671964 STX10 syntaxin 10 gene DOID:630 genetic disease ISO RGD:1353548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11671987 SUMF2 sulfatase modifying factor 2 gene DOID:0050441 mucosulfatidosis ISO RGD:1349479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple sulfatase deficiency PMID:12757706 11671987 SUMF2 sulfatase modifying factor 2 gene DOID:0050724 PSPH deficiency ISO RGD:1349479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency PMID:28492532 11671987 SUMF2 sulfatase modifying factor 2 gene DOID:12849 autistic disorder ISO RGD:1349479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11671987 SUMF2 sulfatase modifying factor 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11671987 SUMF2 sulfatase modifying factor 2 gene DOID:630 genetic disease ISO RGD:1349479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11672001 CAMK2N2 calcium/calmodulin dependent protein kinase II inhibitor 2 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:732268 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11672001 CAMK2N2 calcium/calmodulin dependent protein kinase II inhibitor 2 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:732268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11672001 CAMK2N2 calcium/calmodulin dependent protein kinase II inhibitor 2 gene DOID:0111546 Currarino syndrome ISO RGD:732268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11672002 NANOS3 nanos C2HC-type zinc finger 3 gene DOID:630 genetic disease ISO RGD:1315421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11672008 SAMD14 sterile alpha motif domain containing 14 gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:1602057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:23949819|PMID:25944380|PMID:26478226|PMID:28492532|PMID:7942841|PMID:9295084|PMID:9443882 11672008 SAMD14 sterile alpha motif domain containing 14 gene DOID:630 genetic disease ISO RGD:1602057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11672029 PRKX protein kinase cAMP-dependent X-linked catalytic subunit gene DOID:12849 autistic disorder ISO RGD:1353983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11672029 PRKX protein kinase cAMP-dependent X-linked catalytic subunit gene DOID:630 genetic disease ISO RGD:1353983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11672029 PRKX protein kinase cAMP-dependent X-linked catalytic subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11672045 PDGFRL platelet derived growth factor receptor like gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1317560 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 11672045 PDGFRL platelet derived growth factor receptor like gene DOID:1520 colon carcinoma ISO RGD:1317560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:7898930 11672045 PDGFRL platelet derived growth factor receptor like gene DOID:630 genetic disease ISO RGD:1317560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11672045 PDGFRL platelet derived growth factor receptor like gene DOID:684 hepatocellular carcinoma ISO RGD:1317560 D RGD:7240710 20180130 OMIM 11672045 PDGFRL platelet derived growth factor receptor like gene DOID:684 hepatocellular carcinoma ISO RGD:1317560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:7898930 11672045 PDGFRL platelet derived growth factor receptor like gene DOID:9008443 Colorectal Neoplasms ISO RGD:1317560 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 11672045 PDGFRL platelet derived growth factor receptor like gene DOID:9256 colorectal cancer ISO RGD:1317560 D RGD:7240710 20200226 OMIM 11672084 PRELID3A PRELI domain containing 3A gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1315398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11672084 PRELID3A PRELI domain containing 3A gene DOID:1059 intellectual disability ISO RGD:1315398 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11672084 PRELID3A PRELI domain containing 3A gene DOID:543 dystonia ISO RGD:1315398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 11672084 PRELID3A PRELI domain containing 3A gene DOID:630 genetic disease ISO RGD:1315398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11672100 MTHFS methenyltetrahydrofolate synthetase gene DOID:2717 Bloom syndrome ISO RGD:1315743 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11672100 MTHFS methenyltetrahydrofolate synthetase gene DOID:630 genetic disease ISO RGD:1315743 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11672100 MTHFS methenyltetrahydrofolate synthetase gene DOID:674 cleft palate ISO RGD:1315743 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 11672100 MTHFS methenyltetrahydrofolate synthetase gene DOID:9000512 Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination ISO RGD:1315743 D RGD:7240710 20230505 OMIM 11672100 MTHFS methenyltetrahydrofolate synthetase gene DOID:9000512 Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination ISO RGD:1315743 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination PMID:25741868|PMID:28492532|PMID:30031689 11672100 MTHFS methenyltetrahydrofolate synthetase gene DOID:9256 colorectal cancer ISO RGD:1315743 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11672100 MTHFS methenyltetrahydrofolate synthetase gene DOID:9296 cleft lip ISO RGD:1315743 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 11672113 POU5F2 POU domain class 5, transcription factor 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606459 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11672113 POU5F2 POU domain class 5, transcription factor 2 gene DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome ISO RGD:1606459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome PMID:24462372 11672113 POU5F2 POU domain class 5, transcription factor 2 gene DOID:630 genetic disease ISO RGD:1606459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11672113 POU5F2 POU domain class 5, transcription factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11672113 POU5F2 POU domain class 5, transcription factor 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606459 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11672118 ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide gene DOID:0060041 autism spectrum disorder ISO RGD:735489 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11672118 ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:735489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29718361 11672118 ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide gene DOID:630 genetic disease ISO RGD:735489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11672118 ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide gene DOID:684 hepatocellular carcinoma ISO RGD:735489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11672118 ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 11672138 KCNT2 potassium sodium-activated channel subfamily T member 2 gene DOID:0080284 developmental and epileptic encephalopathy 57 ISO RGD:1351112 D RGD:7240710 20190315 OMIM 11672138 KCNT2 potassium sodium-activated channel subfamily T member 2 gene DOID:0080284 developmental and epileptic encephalopathy 57 ISO RGD:1351112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 57 PMID:24166878|PMID:25741868|PMID:26724206|PMID:29069600|PMID:29314763|PMID:29740868|PMID:32038177|PMID:32773162 11672138 KCNT2 potassium sodium-activated channel subfamily T member 2 gene DOID:0112045 non-syndromic X-linked intellectual disability 93 ISO RGD:1351112 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 93 PMID:25741868 11672138 KCNT2 potassium sodium-activated channel subfamily T member 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1351112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11672138 KCNT2 potassium sodium-activated channel subfamily T member 2 gene DOID:1826 epilepsy ISO RGD:1351112 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:32038177 11672138 KCNT2 potassium sodium-activated channel subfamily T member 2 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1351112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis PMID:32581362 11672138 KCNT2 potassium sodium-activated channel subfamily T member 2 gene DOID:630 genetic disease ISO RGD:1351112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24166878|PMID:25741868|PMID:26724206|PMID:29069600|PMID:29314763|PMID:29740868|PMID:32773162 11672138 KCNT2 potassium sodium-activated channel subfamily T member 2 gene DOID:9000668 Nizon-Isidor Syndrome ISO RGD:1351112 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nizon-Isidor syndrome PMID:25741868 11672138 KCNT2 potassium sodium-activated channel subfamily T member 2 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:1351112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: KCNT2-related condition PMID:25741868|PMID:29069600 11672138 KCNT2 potassium sodium-activated channel subfamily T member 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11672176 E2F6 E2F transcription factor 6 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 11672176 E2F6 E2F transcription factor 6 gene DOID:5419 schizophrenia ISO RGD:1605732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11672176 E2F6 E2F transcription factor 6 gene DOID:630 genetic disease ISO RGD:1605732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11672176 E2F6 E2F transcription factor 6 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1605732 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35225430 11672198 LOC100971080 olfactory receptor 5F1 gene DOID:1059 intellectual disability ISO RGD:1351053 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Intellectual disability 11672198 LOC100971080 olfactory receptor 5F1 gene DOID:630 genetic disease ISO RGD:1351053 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11672200 RSF1 remodeling and spacing factor 1 gene DOID:1059 intellectual disability ISO RGD:1322599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11672200 RSF1 remodeling and spacing factor 1 gene DOID:630 genetic disease ISO RGD:1322599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11672227 PPIA peptidylprolyl isomerase A gene DOID:10763 hypertension ISO RGD:731273 D RGD:9068941 20210903 RGD mRNA:increased expression:alveolar system (human) PMID:32496587|REF_RGD_ID:150383342 11672227 PPIA peptidylprolyl isomerase A gene DOID:12506 Bell's palsy exacerbates ISO RGD:731273 D RGD:9068941 20210910 RGD protein:increased expression:blood serum (human) PMID:32149981|REF_RGD_ID:150429625 11672227 PPIA peptidylprolyl isomerase A gene DOID:1474 aggressive periodontitis ISO RGD:731273 D RGD:9068941 20210910 RGD protein:increased expression:gingiva (human) PMID:27176139|REF_RGD_ID:150429628 11672227 PPIA peptidylprolyl isomerase A gene DOID:1749 squamous cell carcinoma ISO RGD:731273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 11672227 PPIA peptidylprolyl isomerase A gene DOID:1826 epilepsy ISO RGD:3372 D RGD:9068941 20200609 RGD PMID:20626060|REF_RGD_ID:4890972 11672227 PPIA peptidylprolyl isomerase A gene DOID:1883 hepatitis C ameliorates ISO RGD:11131 D RGD:9068941 20210910 RGD PMID:23903655|REF_RGD_ID:150429630 11672227 PPIA peptidylprolyl isomerase A gene DOID:3310 atopic dermatitis ISO RGD:731273 D RGD:9068941 20210903 RGD mRNA:increased expression:zone of skin (human) PMID:32496587|REF_RGD_ID:150383342 11672227 PPIA peptidylprolyl isomerase A gene DOID:3908 lung non-small cell carcinoma ISO RGD:731273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 11672227 PPIA peptidylprolyl isomerase A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11672227 PPIA peptidylprolyl isomerase A gene DOID:4947 cholangiocarcinoma ameliorates ISO RGD:731273 D RGD:9068941 20210910 RGD human cell line and construct in a mouse model PMID:21871105|REF_RGD_ID:150429623 11672227 PPIA peptidylprolyl isomerase A gene DOID:526 human immunodeficiency virus infectious disease disease_progression ISO RGD:731273 D RGD:9068941 20210903 RGD DNA:SNPs:promotor, intron 1: 1604C>G, 2653A>C (rs8177826, rs3735481) (human) PMID:17590083|REF_RGD_ID:150383341 11672227 PPIA peptidylprolyl isomerase A gene DOID:649 prion disease exacerbates ISO RGD:11131 D RGD:9068941 20210903 RGD PMID:31181281|REF_RGD_ID:150383343 11672227 PPIA peptidylprolyl isomerase A gene DOID:9000217 Stomach Neoplasms ISO RGD:731273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 11672227 PPIA peptidylprolyl isomerase A gene DOID:9000371 influenza A ameliorates ISO RGD:731273 D RGD:9068941 20210910 RGD human gene in a mouse model PMID:27354005|REF_RGD_ID:150429624 11672227 PPIA peptidylprolyl isomerase A gene DOID:9000469 Viral Myocarditis ameliorates ISO RGD:11131 D RGD:9068941 20210910 RGD associated with Coxsackievirus Infections PMID:22446162|REF_RGD_ID:150429627 11672227 PPIA peptidylprolyl isomerase A gene DOID:9000965 Neoplasm Metastasis ISO RGD:731273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21956400 11672227 PPIA peptidylprolyl isomerase A gene DOID:9004484 Sepsis treatment ISO RGD:11131 D RGD:9068941 20210910 RGD PMID:29680745|REF_RGD_ID:150429626 11672227 PPIA peptidylprolyl isomerase A gene DOID:9007364 Mouth Neoplasms ISO RGD:731273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 11672227 PPIA peptidylprolyl isomerase A gene DOID:9008225 Respirovirus Infections exacerbates ISO RGD:11131 D RGD:9068941 20210910 RGD PMID:28594325|REF_RGD_ID:150429629 11672227 PPIA peptidylprolyl isomerase A gene DOID:9261 nasopharynx carcinoma ISO RGD:731273 D RGD:9068941 20210910 RGD mRNA, protein:increased expression:blood serum, nasopharynx, extracellular exosome (human) PMID:31063269|REF_RGD_ID:150429622 11672227 PPIA peptidylprolyl isomerase A gene DOID:9970 obesity ISO RGD:731273 D RGD:9068941 20210903 RGD mRNA:increased expression:blood (human) PMID:32496587|REF_RGD_ID:150383342 11672236 CACUL1 CDK2 associated cullin domain 1 gene DOID:630 genetic disease ISO RGD:1317719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11672236 CACUL1 CDK2 associated cullin domain 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1317719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 11672256 ZNF268 zinc finger protein 268 gene DOID:630 genetic disease ISO RGD:1347350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11672282 FARSB phenylalanyl-tRNA synthetase subunit beta gene DOID:3082 interstitial lung disease ISO RGD:1348852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial pneumonitis PMID:29979980 11672282 FARSB phenylalanyl-tRNA synthetase subunit beta gene DOID:5082 liver cirrhosis ISO RGD:1348852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Liver cirrhosis PMID:29979980 11672282 FARSB phenylalanyl-tRNA synthetase subunit beta gene DOID:630 genetic disease ISO RGD:1348852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11672282 FARSB phenylalanyl-tRNA synthetase subunit beta gene DOID:9001665 Aneurysm ISO RGD:1348852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aneurysm PMID:29979980 11672282 FARSB phenylalanyl-tRNA synthetase subunit beta gene DOID:9001942 Rajab Interstitial Lung Disease with Brain Calcifications ISO RGD:1348852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications | ClinVar Annotator: match by term: Rajab syndrome PMID:19161147|PMID:25741868|PMID:29573043|PMID:29979980|PMID:30014610 11672282 FARSB phenylalanyl-tRNA synthetase subunit beta gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1348852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease PMID:29573043 11672282 FARSB phenylalanyl-tRNA synthetase subunit beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11672282 FARSB phenylalanyl-tRNA synthetase subunit beta gene DOID:9006686 Rajab Interstitial Lung Disease with Brain Calcifications 1 ISO RGD:1348852 D RGD:7240710 20190315 OMIM 11672282 FARSB phenylalanyl-tRNA synthetase subunit beta gene DOID:9006686 Rajab Interstitial Lung Disease with Brain Calcifications 1 ISO RGD:1348852 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, SMALL STATURE, MICROCEPHALY, AND BRAIN CALCIFICATIONS | ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 1 PMID:25741868|PMID:28492532|PMID:29573043|PMID:29979980 11672303 CELF4 CUGBP Elav-like family member 4 gene DOID:1059 intellectual disability ISO RGD:1316936 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11672303 CELF4 CUGBP Elav-like family member 4 gene DOID:2661 myoepithelioma ISO RGD:1316936 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11672303 CELF4 CUGBP Elav-like family member 4 gene DOID:630 genetic disease ISO RGD:1316936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14973222 11672353 FBXO6 F-box protein 6 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1352122 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 11672353 FBXO6 F-box protein 6 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1352122 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11672353 FBXO6 F-box protein 6 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1352122 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11672353 FBXO6 F-box protein 6 gene DOID:630 genetic disease ISO RGD:1352122 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11672353 FBXO6 F-box protein 6 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1352122 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:0050952 spastic ataxia ISO RGD:731981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:0060041 autism spectrum disorder ISO RGD:731981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:0080600 COVID-19 ISO RGD:731981 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:1059 intellectual disability ISO RGD:731981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:19266219|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31152168 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:731981 D RGD:9068941 20200609 RGD DNA:SNP: :rs16934131 (human) PMID:21480501|REF_RGD_ID:10412025 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:11981 morbid obesity ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21708048 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:12849 autistic disorder ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16946189 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:1824 status epilepticus ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18695509 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:1826 epilepsy ISO RGD:731981 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:4450 renal cell carcinoma ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:630 genetic disease ISO RGD:731981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12366739|PMID:15184377|PMID:15194823|PMID:15937479|PMID:25741868|PMID:26195193|PMID:26467025|PMID:27567911|PMID:28383543|PMID:28492532|PMID:29330545|PMID:31152168|PMID:32132200 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:6432 pulmonary hypertension ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28090300 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:893 Wilson disease ISO RGD:731981 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:25741868|PMID:26195193|PMID:28492532|PMID:29330545 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9000099 Experimental Colitis ISO RGD:620715 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:colon PMID:23986198|REF_RGD_ID:10412026 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21695131 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9002672 Generalized Epilepsy and Paroxysmal Dyskinesia ISO RGD:731981 D RGD:7240710 20230505 OMIM 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9002672 Generalized Epilepsy and Paroxysmal Dyskinesia ISO RGD:731981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized epilepsy and paroxysmal dyskinesia | ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy PMID:15937479|PMID:16199547|PMID:16946189|PMID:17576681|PMID:18414213|PMID:19266219|PMID:20430843|PMID:25326635|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26195193|PMID:26467025|PMID:27567911|PMID:28492532|PMID:29330545|PMID:29356177|PMID:29545233|PMID:29738522|PMID:29933521|PMID:9536098 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9003251 CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES ISO RGD:731981 D RGD:7240710 20230505 OMIM 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9003251 CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES ISO RGD:731981 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES | ClinVar Annotator: match by term: Cerebellar atrophy, developmental delay, and seizures PMID:17576681|PMID:25741868|PMID:26467025|PMID:27567911|PMID:28492532|PMID:29545233|PMID:9536098 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9004657 Weight Gain ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27605626 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9004958 Idiopathic Generalized Epilepsy 16 ISO RGD:731981 D RGD:7240710 20230505 OMIM 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9004958 Idiopathic Generalized Epilepsy 16 ISO RGD:731981 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 16 PMID:25741868|PMID:28492532 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:731981 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:28492532 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620715 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:aorta, smooth muscle PMID:24589593|REF_RGD_ID:10412030 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9006257 Growth Disorders ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28242822 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9008086 Developmental Disabilities ISO RGD:731981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9008539 Perinatal Death ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28242822 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9008959 Liang-Wang Syndrome ISO RGD:731981 D RGD:7240710 20230505 OMIM 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9008959 Liang-Wang Syndrome ISO RGD:731981 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Liang-Wang syndrome PMID:12366739|PMID:15184377|PMID:15194823|PMID:15937479|PMID:17576681|PMID:25741868|PMID:26195193|PMID:26467025|PMID:27567911|PMID:28383543|PMID:28492532|PMID:31152168|PMID:32132200|PMID:9536098 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15088113 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9970 obesity ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27605626 11672418 CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 gene DOID:0060648 anterior segment dysgenesis ISO RGD:1347044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:27839872|PMID:32499604 11672418 CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 gene DOID:0080613 anterior segment dysgenesis 8 ISO RGD:1347044 D RGD:7240710 20190315 OMIM 11672418 CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 gene DOID:0080613 anterior segment dysgenesis 8 ISO RGD:1347044 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis 8 PMID:25741868|PMID:27839872|PMID:28492532|PMID:32499604 11672418 CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 gene DOID:3007 breast ductal carcinoma ISO RGD:1347044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 11672418 CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 gene DOID:630 genetic disease ISO RGD:1347044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11672418 CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 gene DOID:9008296 Eye Abnormalities ISO RGD:1347044 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormal anterior eye segment morphology PMID:25741868 11672418 CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1347044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 11672445 LOC100980025 putative G-protein coupled receptor GPR32P1 gene DOID:0060041 autism spectrum disorder ISO RGD:1343074 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11672445 LOC100980025 putative G-protein coupled receptor GPR32P1 gene DOID:630 genetic disease ISO RGD:1343074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11672449 SLC22A17 solute carrier family 22 member 17 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1348088 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11672449 SLC22A17 solute carrier family 22 member 17 gene DOID:630 genetic disease ISO RGD:1348088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11672449 SLC22A17 solute carrier family 22 member 17 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1348088 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 11672449 SLC22A17 solute carrier family 22 member 17 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1348088 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11672467 APOBEC2 apolipoprotein B mRNA editing enzyme catalytic subunit 2 gene DOID:630 genetic disease ISO RGD:1318670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11672474 SEMA4B semaphorin 4B gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1317317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 11672474 SEMA4B semaphorin 4B gene DOID:2717 Bloom syndrome ISO RGD:1317317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11672474 SEMA4B semaphorin 4B gene DOID:630 genetic disease ISO RGD:1317317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11672474 SEMA4B semaphorin 4B gene DOID:9256 colorectal cancer ISO RGD:1317317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11672498 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 11672498 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11672498 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1312950 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:25741868 11672498 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:0080690 RASopathy ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11672498 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 11672498 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:0111971 immunodeficiency 18 ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 11672498 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:0111972 immunodeficiency 19 ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 11672498 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:0111973 immunodeficiency 17 ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 11672498 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:5419 schizophrenia ISO RGD:1312950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11672498 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:630 genetic disease ISO RGD:1312950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11672498 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1312950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11672498 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:9004657 Weight Gain ISO RGD:1312950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11672498 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:9007661 Dwarfism ISO RGD:1312950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11672548 FABP1 fatty acid binding protein 1 gene DOID:10763 hypertension ISO RGD:736881 D RGD:9068941 20200609 RGD protein:increased excretion:urine:possibly related to arteriosclerosis (MeSH:D001161) PMID:15830271|REF_RGD_ID:1626441 11672548 FABP1 fatty acid binding protein 1 gene DOID:12556 acute kidney tubular necrosis ISO RGD:736881 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18368030 11672548 FABP1 fatty acid binding protein 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:736881 D RGD:9068941 20200609 RGD protein:increased expression:urine (human) PMID:16118482|REF_RGD_ID:1578453 11672548 FABP1 fatty acid binding protein 1 gene DOID:630 genetic disease ISO RGD:736881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11672548 FABP1 fatty acid binding protein 1 gene DOID:783 end stage renal disease ISO RGD:736881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 11672548 FABP1 fatty acid binding protein 1 gene DOID:9004590 Acute Liver Failure ISO RGD:736881 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 11672548 FABP1 fatty acid binding protein 1 gene DOID:9452 fatty liver disease ISO RGD:10563 D RGD:9068941 20200609 RGD Western diet-induced hepatic steatosis; DNA:mutation::Fabp1 knockout mice PMID:17058218|REF_RGD_ID:1626440 11672548 FABP1 fatty acid binding protein 1 gene DOID:9455 lipid storage disease ISO RGD:736881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414 11672548 FABP1 fatty acid binding protein 1 gene DOID:9970 obesity ISO RGD:10563 D RGD:9068941 20200609 RGD Western diet-induced obesity; DNA:mutation::Fabp1 knockout mice PMID:17058218|REF_RGD_ID:1626440 11672556 LOC100983103 surfactant-associated protein 3 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:3866 D RGD:9068941 20200702 RGD mRNA, protein:increased expression:lung PMID:17245593|REF_RGD_ID:1600158 11672562 PRR5L proline rich 5 like gene DOID:1059 intellectual disability ISO RGD:1605618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11672562 PRR5L proline rich 5 like gene DOID:630 genetic disease ISO RGD:1605618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11672588 CMTM3 CKLF like MARVEL transmembrane domain containing 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1318724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11672588 CMTM3 CKLF like MARVEL transmembrane domain containing 3 gene DOID:0110255 cataract 5 multiple types ISO RGD:1318724 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 11672588 CMTM3 CKLF like MARVEL transmembrane domain containing 3 gene DOID:630 genetic disease ISO RGD:1318724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11672588 CMTM3 CKLF like MARVEL transmembrane domain containing 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11672597 GDPD5 glycerophosphodiester phosphodiesterase domain containing 5 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1604590 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11672597 GDPD5 glycerophosphodiester phosphodiesterase domain containing 5 gene DOID:1059 intellectual disability ISO RGD:1604590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11672597 GDPD5 glycerophosphodiester phosphodiesterase domain containing 5 gene DOID:630 genetic disease ISO RGD:1604590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11672632 EFCAB10 EF-hand calcium binding domain 10 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:2301274 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25050558|PMID:25741868|PMID:28492532|PMID:32566746 11672632 EFCAB10 EF-hand calcium binding domain 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:2301274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25050558|PMID:25741868|PMID:26787654|PMID:27544226|PMID:28492532|PMID:31173646|PMID:31204009|PMID:32566746|PMID:33471991 11672632 EFCAB10 EF-hand calcium binding domain 10 gene DOID:9008663 Infantile Liver Failure Syndrome 3 ISO RGD:2301274 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Infantile liver failure syndrome 3 PMID:17576681|PMID:24033266|PMID:25050558|PMID:25741868|PMID:26787654|PMID:28492532|PMID:9536098 11672668 NF1 neurofibromin 1 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:737471 D RGD:7240710 20180130 OMIM 11672668 NF1 neurofibromin 1 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:10336779|PMID:10543400|PMID:10607834|PMID:10678181|PMID:10712197|PMID:10726756|PMID:10862084|PMID:10874316|PMID:11258625|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12807981|PMID:15060124|PMID:15146469|PMID:15207265|PMID:15846561|PMID:16513807|PMID:16786508|PMID:16835897|PMID:16944272|PMID:17406642|PMID:17426081|PMID:18183640|PMID:18546366|PMID:19076627|PMID:19120036|PMID:19142971|PMID:20301288|PMID:21278392|PMID:22034633|PMID:22155606|PMID:22190595|PMID:22965773|PMID:23460398|PMID:23637863|PMID:23668869|PMID:23758643|PMID:23913538|PMID:24357598|PMID:24413922|PMID:24654934|PMID:24789688|PMID:24922668|PMID:25324867|PMID:25370043|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25741868|PMID:25925892|PMID:26056819|PMID:26088551|PMID:26178382|PMID:26467025|PMID:26509978|PMID:26706011|PMID:26740943|PMID:26969325|PMID:27074763|PMID:27322474|PMID:27838393|PMID:28422438|PMID:28492532|PMID:29290338|PMID:29415745|PMID:29483232|PMID:29522274|PMID:29926981|PMID:30287823|PMID:30290804|PMID:30308447|PMID:30530636|PMID:31160754|PMID:31308404|PMID:31370276|PMID:31533797|PMID:31717729|PMID:31766501|PMID:32581362|PMID:33046013|PMID:33540839|PMID:36988593|PMID:7655472|PMID:7981679|PMID:9042399|PMID:9180088|PMID:9463322|PMID:9639526|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:0050771 pheochromocytoma ISO RGD:737471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:11857752|PMID:12095621|PMID:14722917|PMID:1568247|PMID:16380919|PMID:16513807|PMID:16786508|PMID:18546366|PMID:22155606|PMID:22807134|PMID:23244495|PMID:24033266|PMID:25325900|PMID:25741868|PMID:26467025|PMID:26840085|PMID:27322474|PMID:27716896|PMID:28492532|PMID:29290338|PMID:29415745|PMID:29673180|PMID:31595648|PMID:32107864|PMID:8264648|PMID:8499944|PMID:8499945|PMID:8669813|PMID:9003501|PMID:9219873 11672668 NF1 neurofibromin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737471 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:28492532|PMID:30763456 11672668 NF1 neurofibromin 1 gene DOID:0060320 inguinal hernia ISO RGD:737471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inguinal hernia PMID:10712197|PMID:23656349|PMID:23913538|PMID:25741868|PMID:28492532 11672668 NF1 neurofibromin 1 gene DOID:0080199 colorectal carcinoma severity ISO RGD:737471 D RGD:9068941 20210917 RGD protein:increased expression:colorectum (human) PMID:27798892|REF_RGD_ID:150429697 11672668 NF1 neurofibromin 1 gene DOID:0080638 B-cell acute lymphoblastic leukemia ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B Acute Lymphoblastic Leukemia PMID:17576681|PMID:23656349|PMID:25741868|PMID:28492532|PMID:9536098 11672668 NF1 neurofibromin 1 gene DOID:0080690 RASopathy ISO RGD:737471 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10712197|PMID:23913538|PMID:25741868|PMID:28492532 11672668 NF1 neurofibromin 1 gene DOID:0111222 centronuclear myopathy 5 ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 5 PMID:10862084|PMID:12552569|PMID:15060124|PMID:15863657|PMID:16944272|PMID:17726231|PMID:24033266|PMID:25741868|PMID:28492532 11672668 NF1 neurofibromin 1 gene DOID:0111252 neurofibromatosis 2 ISO RGD:737471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:25741868 11672668 NF1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:7240710 20180130 OMIM 11672668 NF1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, familial spinal | ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10076878|PMID:10090487|PMID:10220149|PMID:10336779|PMID:10451518|PMID:10494088|PMID:10534774|PMID:10543400|PMID:10587576|PMID:10607834|PMID:10631140|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11292340|PMID:11431704|PMID:11476066|PMID:11704931|PMID:11726231|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12387455|PMID:12403553|PMID:12438263|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12624144|PMID:12687660|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12808981|PMID:12822827|PMID:12872266|PMID:1302608|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14605872|PMID:14635100|PMID:14722914|PMID:14722917|PMID:1483690|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:15257518|PMID:15338462|PMID:15520408|PMID:15523626|PMID:15523642|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15858190|PMID:15863657|PMID:1587809|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16380919|PMID:16397625|PMID:16405917|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16740526|PMID:16773574|PMID:16786508|PMID:16787982|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17114577|PMID:17160901|PMID:1719426|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:1745350|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17668375|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17889038|PMID:17914445|PMID:17960768|PMID:18000842|PMID:18021924|PMID:18041031|PMID:18055911|PMID:18183042|PMID:18183640|PMID:18196300|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:1937470|PMID:19449407|PMID:19665063|PMID:19738042|PMID:19763152|PMID:19785027|PMID:19823873|PMID:19845691|PMID:19920235|PMID:20015894|PMID:20186797|PMID:20229272|PMID:20301288|PMID:20307669|PMID:20358387|PMID:20513137|PMID:20602485|PMID:20605257|PMID:20844836|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21512413|PMID:2152033|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21618341|PMID:21732117|PMID:21822264|PMID:21838856|PMID:22034633|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22159552|PMID:22190595|PMID:22207399|PMID:22222937|PMID:22241097|PMID:22406018|PMID:22608206|PMID:22617876|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22837079|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23175693|PMID:23222849|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23417386|PMID:23460398|PMID:23532973|PMID:23583981|PMID:23621909|PMID:23624750|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:2411134|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24451118|PMID:24463508|PMID:24506781|PMID:24586880|PMID:24654934|PMID:24676424|PMID:24676943|PMID:24694336|PMID:24710307|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24916674|PMID:24922668|PMID:24932921|PMID:24951259|PMID:24958239|PMID:25074460|PMID:25156439|PMID:25166435|PMID:25205021|PMID:25211147|PMID:25234363|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25520849|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25612910|PMID:25624686|PMID:25631097|PMID:25640679|PMID:25733387|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25834617|PMID:25877891|PMID:25925892|PMID:25938944|PMID:25966637|PMID:26000329 11672668 NF1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, familial spinal | ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:26017449|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26189818|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26822949|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27234610|PMID:27305697|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27629806|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27959697|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28152038|PMID:28422438|PMID:28492532|PMID:28529006|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28924536|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29471550|PMID:29483232|PMID:2948975|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29588991|PMID:29618358|PMID:29620724|PMID:29625052|PMID:29673180|PMID:29680440|PMID:29684080|PMID:29685074|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30098238|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30124220|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30828344|PMID:30877234|PMID:30977107|PMID:31031587|PMID:31048186|PMID:31066482|PMID:31130284|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31397088|PMID:31422574|PMID:31443423|PMID:31476437|PMID:31507634|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31690835|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31836666|PMID:31868168|PMID:31874108|PMID:31882575|PMID:32005694|PMID:32052251|PMID:32056211|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32133419|PMID:32359129|PMID:32427313|PMID:32533764|PMID:32552793|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32575496|PMID:32581362|PMID:32582540|PMID:32761593|PMID:32860008|PMID:32873259|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33794220|PMID:33804961|PMID:33877690|PMID:33911094|PMID:33919865|PMID:34012022|PMID:34080803|PMID:34284872|PMID:34392670|PMID:34418705|PMID:34427956|PMID:34439939|PMID:34489640|PMID:34598035|PMID:34646065|PMID:34694046|PMID:34707296|PMID:34782607|PMID:34887559|PMID:34906502|PMID:34988040|PMID:35024939|PMID:35039564|PMID:35091509|PMID:35101336|PMID:35264596|PMID:35353986|PMID:35836575|PMID:35885913|PMID:36988593|PMID:4633999|PMID:7311297|PMID:7581973|PMID:7586657|PMID:7607663|PMID:7633431|PMID:7643367|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8034304|PMID:8069310|PMID:8069315|PMID:8081387|PMID:8099055|PMID:8116612|PMID:8118468|PMID:8242079|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8931693|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9101303|PMID:9109662|PMID:9132486|PMID:9150739|PMID:9177273|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9452037|PMID:9463322|PMID:9475595|PMID:9529361|PMID:9536098|PMID:9544853|PMID:9545275|PMID:9639526|PMID:9643287|PMID:9654211|PMID:9668168 11672668 NF1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, familial spinal | ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:9687500|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:0111627 DOORS syndrome ISO RGD:737471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: DOORS syndrome PMID:11857752|PMID:12095621|PMID:14722917|PMID:1568247|PMID:16380919|PMID:16513807|PMID:16786508|PMID:18546366|PMID:22155606|PMID:22807134|PMID:23244495|PMID:24033266|PMID:25325900|PMID:25741868|PMID:26467025|PMID:26840085|PMID:27322474|PMID:27716896|PMID:28492532|PMID:29290338|PMID:29415745|PMID:29673180|PMID:31595648|PMID:32107864|PMID:8264648|PMID:8499944|PMID:8499945|PMID:8669813|PMID:9003501|PMID:9219873 11672668 NF1 neurofibromin 1 gene DOID:0111683 neurofibromatosis-Noonan syndrome ISO RGD:737471 D RGD:7240710 20180130 OMIM 11672668 NF1 neurofibromin 1 gene DOID:0111683 neurofibromatosis-Noonan syndrome ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurofibromatosis with Noonan phenotype | ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome PMID:10090487|PMID:10336779|PMID:10451518|PMID:10543400|PMID:10607834|PMID:10678181|PMID:10712197|PMID:10726756|PMID:10862084|PMID:10980545|PMID:11258625|PMID:12112660|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12707950|PMID:12807981|PMID:14569132|PMID:15060124|PMID:15146469|PMID:15207265|PMID:15523642|PMID:1568246|PMID:15863657|PMID:16138229|PMID:16199547|PMID:16479075|PMID:16513807|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16835897|PMID:16944272|PMID:17160901|PMID:17311297|PMID:17426081|PMID:17668375|PMID:17726231|PMID:17914445|PMID:18041031|PMID:18183640|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19221814|PMID:19738042|PMID:19845691|PMID:20301288|PMID:20602485|PMID:21271658|PMID:21354044|PMID:21520333|PMID:21532985|PMID:22034633|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22703879|PMID:22807134|PMID:22962301|PMID:22965773|PMID:23047742|PMID:23404336|PMID:23460398|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23913538|PMID:24033266|PMID:24218100|PMID:24357598|PMID:24413922|PMID:24463508|PMID:24654934|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24922668|PMID:24951259|PMID:25074460|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25533962|PMID:25541118|PMID:25741868|PMID:25788518|PMID:25877891|PMID:25925892|PMID:26000329|PMID:26056819|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26467025|PMID:26489445|PMID:26510091|PMID:26580448|PMID:26635368|PMID:26706011|PMID:26740943|PMID:26758488|PMID:26908603|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27171602|PMID:27322474|PMID:27482814|PMID:27498913|PMID:27793025|PMID:27838393|PMID:27980226|PMID:27999334|PMID:28422438|PMID:28492532|PMID:28825729|PMID:28873162|PMID:28976792|PMID:29089047|PMID:29290338|PMID:29415745|PMID:29483232|PMID:29522274|PMID:29872168|PMID:29908077|PMID:29926981|PMID:30014477|PMID:30111351|PMID:30190611|PMID:30287823|PMID:30290804|PMID:30308447|PMID:30530636|PMID:30632835|PMID:30877234|PMID:31159747|PMID:31160754|PMID:31308404|PMID:31370276|PMID:31371350|PMID:31422574|PMID:31533797|PMID:31595648|PMID:31717729|PMID:31766501|PMID:31868168|PMID:32566746|PMID:33046013|PMID:33322618|PMID:33372952|PMID:33471991|PMID:33540839|PMID:33562071|PMID:34080803|PMID:34418705|PMID:34427956|PMID:34988040|PMID:35885913|PMID:36988593|PMID:7586657|PMID:7607663|PMID:7655472|PMID:7904209|PMID:7981679|PMID:8544190|PMID:8664912|PMID:9042399|PMID:9109662|PMID:9219684|PMID:9302992|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:10126 keratoconus ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 11672668 NF1 neurofibromin 1 gene DOID:10534 stomach cancer ISO RGD:737471 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:10494088|PMID:10607834|PMID:10678181|PMID:10712197|PMID:10726756|PMID:10862084|PMID:11137998|PMID:12112660|PMID:12552569|PMID:12807981|PMID:14569132|PMID:14722917|PMID:15060124|PMID:15146469|PMID:1568246|PMID:15863657|PMID:16199547|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16542390|PMID:16544997|PMID:16835897|PMID:16870183|PMID:16941471|PMID:16944272|PMID:17160901|PMID:17209131|PMID:17311297|PMID:17551851|PMID:17914445|PMID:18021924|PMID:18041031|PMID:18546366|PMID:190611|PMID:19061981|PMID:20301288|PMID:20602485|PMID:21354044|PMID:21532985|PMID:22108604|PMID:22925204|PMID:23010473|PMID:23047742|PMID:23460398|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23913538|PMID:24033266|PMID:24413922|PMID:24654934|PMID:24789688|PMID:25240281|PMID:25324867|PMID:25325900|PMID:25541118|PMID:25741868|PMID:25810463|PMID:26056819|PMID:26088551|PMID:26230854|PMID:26467025|PMID:26962827|PMID:26969325|PMID:27069254|PMID:27322474|PMID:27838393|PMID:28492532|PMID:28873162|PMID:29290338|PMID:29483232|PMID:29498099|PMID:29618358|PMID:29872168|PMID:29914388|PMID:29926981|PMID:30190611|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30308447|PMID:30530636|PMID:31160754|PMID:31370276|PMID:31533651|PMID:31533797|PMID:31717729|PMID:31730495|PMID:32554297|PMID:36988593|PMID:7607663|PMID:7655472|PMID:7904209|PMID:8834249|PMID:9180088|PMID:9385374|PMID:9463322 11672668 NF1 neurofibromin 1 gene DOID:1059 intellectual disability ISO RGD:737471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:12807981|PMID:18183640|PMID:19120036|PMID:24357598|PMID:24789688|PMID:25370043|PMID:25533962|PMID:25741868|PMID:26178382|PMID:26706011|PMID:26740943|PMID:28492532|PMID:29522274 11672668 NF1 neurofibromin 1 gene DOID:1059 intellectual disability ISO RGD:737471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:12807981|PMID:18183640|PMID:19120036|PMID:20301288|PMID:24357598|PMID:24789688|PMID:25370043|PMID:25533962|PMID:25741868|PMID:26178382|PMID:26706011|PMID:26740943|PMID:28492532|PMID:29522274 11672668 NF1 neurofibromin 1 gene DOID:10907 microcephaly ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:30308447 11672668 NF1 neurofibromin 1 gene DOID:1115 sarcoma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20601955 11672668 NF1 neurofibromin 1 gene DOID:11446 sciatic neuropathy ISO RGD:3168 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve: PMID:8847098|REF_RGD_ID:12790590 11672668 NF1 neurofibromin 1 gene DOID:12849 autistic disorder ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15389774 11672668 NF1 neurofibromin 1 gene DOID:12849 autistic disorder susceptibility ISO RGD:737471 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:GXAlu, IVS27AC28.4 (human) PMID:15389774|REF_RGD_ID:12743657 11672668 NF1 neurofibromin 1 gene DOID:1909 melanoma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042|PMID:26214590 11672668 NF1 neurofibromin 1 gene DOID:1969 cerebral palsy ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 11672668 NF1 neurofibromin 1 gene DOID:219 colon cancer ISO RGD:737471 D RGD:9068941 20210917 RGD mRNA:increased expression:colon (human) PMID:15840687|REF_RGD_ID:150429699 11672668 NF1 neurofibromin 1 gene DOID:2226 myeloproliferative neoplasm ISO RGD:737471 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable PMID:28492532|PMID:35101336 11672668 NF1 neurofibromin 1 gene DOID:224 transient cerebral ischemia ISO RGD:3168 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:astrocyte: PMID:8820972|REF_RGD_ID:12789703 11672668 NF1 neurofibromin 1 gene DOID:2394 ovarian cancer ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532|PMID:30287823|PMID:30290804|PMID:30784236|PMID:33471991 11672668 NF1 neurofibromin 1 gene DOID:3068 glioblastoma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 11672668 NF1 neurofibromin 1 gene DOID:3069 malignant astrocytoma ISO RGD:10973 D RGD:9068941 20200609 RGD PMID:10973261|REF_RGD_ID:1302542 11672668 NF1 neurofibromin 1 gene DOID:3069 malignant astrocytoma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20176786|PMID:23817572 11672668 NF1 neurofibromin 1 gene DOID:3069 malignant astrocytoma ISO RGD:737471 D RGD:9068941 20200609 RGD protein:decreased expression:brain: PMID:10931370|REF_RGD_ID:12743656 11672668 NF1 neurofibromin 1 gene DOID:3070 high grade glioma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 11672668 NF1 neurofibromin 1 gene DOID:3070 high grade glioma disease_progression ISO RGD:737471 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:26190195|REF_RGD_ID:12789702 11672668 NF1 neurofibromin 1 gene DOID:3192 neurilemmoma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 11672668 NF1 neurofibromin 1 gene DOID:3247 rhabdomyosarcoma ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:10090487|PMID:10543400|PMID:10607834|PMID:10678181|PMID:10712197|PMID:10862084|PMID:10980545|PMID:11258625|PMID:11857752|PMID:12112660|PMID:12566521|PMID:12746402|PMID:12807981|PMID:1511985|PMID:15627836|PMID:16199547|PMID:16937374|PMID:16944272|PMID:16961930|PMID:17426081|PMID:17576681|PMID:17668375|PMID:18041031|PMID:18484666|PMID:18546366|PMID:19076627|PMID:19221814|PMID:19292874|PMID:19738042|PMID:20015894|PMID:21354044|PMID:22155606|PMID:22190595|PMID:23222849|PMID:23404336|PMID:23460398|PMID:23668869|PMID:23758643|PMID:23913538|PMID:24033266|PMID:24789688|PMID:24932921|PMID:25324867|PMID:25325900|PMID:25741868|PMID:26056819|PMID:26467025|PMID:26478990|PMID:26740943|PMID:26908603|PMID:26969325|PMID:26973730|PMID:27069254|PMID:27074763|PMID:27171602|PMID:27322474|PMID:27482814|PMID:27838393|PMID:27862945|PMID:28422438|PMID:28492532|PMID:28955729|PMID:29522274|PMID:29673180|PMID:29872168|PMID:29914388|PMID:30014477|PMID:31533797|PMID:31717729|PMID:31776437|PMID:32107864|PMID:32860008|PMID:33372952|PMID:34080803|PMID:34694046|PMID:7655472|PMID:8069310|PMID:8099055|PMID:9536098|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:3355 fibrosarcoma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20601955 11672668 NF1 neurofibromin 1 gene DOID:3369 Ewing sarcoma ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ewing sarcoma PMID:10494088|PMID:10607834|PMID:10712197|PMID:11137998|PMID:12112660|PMID:12807981|PMID:15060124|PMID:16479075|PMID:16870183|PMID:17311297|PMID:20301288|PMID:22925204|PMID:23668869|PMID:23913538|PMID:25741868|PMID:25810463|PMID:26467025|PMID:26962827|PMID:27322474|PMID:28492532|PMID:31730495|PMID:36988593|PMID:7607663|PMID:9385374|PMID:9463322 11672668 NF1 neurofibromin 1 gene DOID:3382 liposarcoma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20601955 11672668 NF1 neurofibromin 1 gene DOID:3840 craniopharyngioma ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniopharyngioma PMID:25741868|PMID:28492532 11672668 NF1 neurofibromin 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:737471 D RGD:9068941 20210521 RGD mRNA:increased expression:lung (human) PMID:30280776|REF_RGD_ID:126925764 11672668 NF1 neurofibromin 1 gene DOID:4851 pilocytic astrocytoma ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pilocytic astrocytoma PMID:25741868 11672668 NF1 neurofibromin 1 gene DOID:4992 optic nerve glioma ISO RGD:737471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Optic nerve glioma PMID:10712197|PMID:16199547|PMID:23913538|PMID:25741868|PMID:28492532|PMID:29483232 11672668 NF1 neurofibromin 1 gene DOID:4992 optic nerve glioma susceptibility ISO RGD:737471 D RGD:9068941 20200609 RGD associated with Neurofibromatosis 1; DNA:mutations:5'end: PMID:21278392|REF_RGD_ID:12789442 11672668 NF1 neurofibromin 1 gene DOID:5078 ganglioglioma ISO RGD:737471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ganglioglioma PMID:10712197|PMID:15523642|PMID:16835897|PMID:16944272|PMID:18546366|PMID:19738042|PMID:23913538|PMID:24357598|PMID:25325900|PMID:25741868|PMID:26467025|PMID:27980226|PMID:28492532|PMID:31371350|PMID:34427956|PMID:34988040|PMID:7607663 11672668 NF1 neurofibromin 1 gene DOID:5151 plexiform neurofibroma ISO RGD:737471 D RGD:9068941 20210528 RGD associated with severe combined immunodeficiency, human cells in mouse model PMID:17335073|REF_RGD_ID:126925763 11672668 NF1 neurofibromin 1 gene DOID:540 strabismus ISO RGD:737471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Strabismus PMID:21520333|PMID:23656349|PMID:25741868|PMID:28492532|PMID:29089047|PMID:33471991 11672668 NF1 neurofibromin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10336779|PMID:11857752|PMID:12807981|PMID:15146469|PMID:21520333|PMID:24789688|PMID:25741868|PMID:26489445|PMID:26510091|PMID:28492532|PMID:29089047|PMID:30287823|PMID:32566746|PMID:9691142 11672668 NF1 neurofibromin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737471 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10336779|PMID:11857752|PMID:12807981|PMID:15146469|PMID:21520333|PMID:23913538|PMID:24789688|PMID:25741868|PMID:26489445|PMID:26510091|PMID:28492532|PMID:29089047|PMID:30287823|PMID:32566746|PMID:33471991|PMID:9691142 11672668 NF1 neurofibromin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10336779|PMID:11857752|PMID:12807981|PMID:15146469|PMID:21520333|PMID:23913538|PMID:24789688|PMID:25741868|PMID:26489445|PMID:26510091|PMID:28492532|PMID:29089047|PMID:30287823|PMID:32566746|PMID:33471991|PMID:35091509|PMID:9691142 11672668 NF1 neurofibromin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10336779|PMID:11857752|PMID:12807981|PMID:15146469|PMID:21520333|PMID:23913538|PMID:24789688|PMID:25741868|PMID:26467025|PMID:26489445|PMID:26510091|PMID:28492532|PMID:29089047|PMID:30287823|PMID:32566746|PMID:33471991|PMID:35091509|PMID:9691142 11672668 NF1 neurofibromin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10336779|PMID:11857752|PMID:12807981|PMID:15146469|PMID:23913538|PMID:24789688|PMID:25741868|PMID:26467025|PMID:26489445|PMID:26510091|PMID:28492532|PMID:29089047|PMID:30287823|PMID:31370276|PMID:32566746|PMID:33471991|PMID:35091509|PMID:9691142 11672668 NF1 neurofibromin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10336779|PMID:11857752|PMID:12807981|PMID:15146469|PMID:23913538|PMID:24789688|PMID:25741868|PMID:26467025|PMID:26489445|PMID:26510091|PMID:28492532|PMID:29089047|PMID:30287823|PMID:31370276|PMID:32566746|PMID:33471991|PMID:35091509|PMID:35264596|PMID:9691142 11672668 NF1 neurofibromin 1 gene DOID:630 genetic disease ISO RGD:737471 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10607834|PMID:10678181|PMID:10712197|PMID:10862084|PMID:10980545|PMID:11258625|PMID:11857752|PMID:12483293|PMID:12807981|PMID:15060124|PMID:1511985|PMID:16835897|PMID:16937374|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17311297|PMID:17576681|PMID:17726231|PMID:17889038|PMID:18041031|PMID:18484666|PMID:18546366|PMID:21031597|PMID:21354044|PMID:23460398|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23913538|PMID:24932921|PMID:25074460|PMID:25325900|PMID:25356970|PMID:25525159|PMID:25624686|PMID:25741868|PMID:25788518|PMID:26467025|PMID:26514327|PMID:26740943|PMID:26969325|PMID:27069254|PMID:27074763|PMID:27322474|PMID:2783839|PMID:27838393|PMID:28068329|PMID:28152038|PMID:28492532|PMID:28529006|PMID:28955729|PMID:29089047|PMID:29483232|PMID:29618358|PMID:29620724|PMID:29673180|PMID:30014477|PMID:30287823|PMID:30290804|PMID:30308447|PMID:31370276|PMID:31476437|PMID:31717729|PMID:31766501|PMID:31776437|PMID:32005694|PMID:32056211|PMID:32533764|PMID:33673681|PMID:33919865|PMID:34080803|PMID:34427956|PMID:8099055|PMID:9536098|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:657 adenoma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 11672668 NF1 neurofibromin 1 gene DOID:768 retinoblastoma ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:25741868|PMID:28492532 11672668 NF1 neurofibromin 1 gene DOID:8712 neurofibromatosis ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurofibromatosis | ClinVar Annotator: match by term: Neurofibromatosis type 6 PMID:10678181|PMID:10712197|PMID:14722917|PMID:16199547|PMID:16479075|PMID:16835897|PMID:16941471|PMID:17209131|PMID:17426081|PMID:17551851|PMID:17914445|PMID:18546366|PMID:21354044|PMID:23460398|PMID:23668869|PMID:23913538|PMID:25240281|PMID:25741868|PMID:26467025|PMID:26969325|PMID:27069254|PMID:27838393|PMID:28492532|PMID:29872168|PMID:30530636|PMID:31370276|PMID:31533651|PMID:31533797|PMID:31717729|PMID:36988593|PMID:9150739|PMID:9180088 11672668 NF1 neurofibromin 1 gene DOID:8864 acute monocytic leukemia ISO RGD:737471 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Acute monocytic leukemia PMID:25741868|PMID:28492532|PMID:29290338|PMID:33471991 11672668 NF1 neurofibromin 1 gene DOID:8927 learning disability ISO RGD:10973 D RGD:9068941 20200609 RGD PMID:11279521|REF_RGD_ID:1302541 11672668 NF1 neurofibromin 1 gene DOID:8927 learning disability ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21949590 11672668 NF1 neurofibromin 1 gene DOID:9002182 Cafe au lait Spots, Multiple ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cafe au lait spots, multiple PMID:10543400|PMID:10607834|PMID:10678181|PMID:10712197|PMID:10726756|PMID:10862084|PMID:11857752|PMID:12095621|PMID:14722917|PMID:15146469|PMID:1568247|PMID:15846561|PMID:16380919|PMID:16479075|PMID:16513807|PMID:16786508|PMID:16835897|PMID:16941471|PMID:16944272|PMID:17209131|PMID:17406642|PMID:17551851|PMID:17576681|PMID:17914445|PMID:18484666|PMID:18546366|PMID:19142971|PMID:19845691|PMID:21278392|PMID:21354044|PMID:21520333|PMID:22155606|PMID:22190595|PMID:22807134|PMID:23244495|PMID:23404336|PMID:23460398|PMID:23656349|PMID:23668869|PMID:23913538|PMID:24033266|PMID:24232412|PMID:24789688|PMID:25240281|PMID:25325900|PMID:25403449|PMID:25525159|PMID:25741868|PMID:26056819|PMID:26467025|PMID:26478990|PMID:26840085|PMID:26969325|PMID:27069254|PMID:27074763|PMID:27322474|PMID:27716896|PMID:27838393|PMID:28008555|PMID:28492532|PMID:29290338|PMID:29415745|PMID:29673180|PMID:29872168|PMID:30530636|PMID:31370276|PMID:31533651|PMID:31533797|PMID:31595648|PMID:31717729|PMID:31776437|PMID:32107864|PMID:32126153|PMID:32581362|PMID:33443663|PMID:34080803|PMID:35024939|PMID:36988593|PMID:7581973|PMID:7981679|PMID:8264648|PMID:8499944|PMID:8499945|PMID:8669813|PMID:8837715|PMID:9003501|PMID:9150739|PMID:9180088|PMID:9219873|PMID:9475595|PMID:9536098 11672668 NF1 neurofibromin 1 gene DOID:9002380 Watson Syndrome ISO RGD:737471 D RGD:7240710 20180130 OMIM 11672668 NF1 neurofibromin 1 gene DOID:9002380 Watson Syndrome ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Café-au-lait macules with pulmonary stenosis | ClinVar Annotator: match by term: Pulmonic stenosis with cafe-au-lait spots PMID:10090487|PMID:10336779|PMID:10543400|PMID:10607834|PMID:10678181|PMID:10712197|PMID:10726756|PMID:10862084|PMID:10980545|PMID:11258625|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12807981|PMID:1302608|PMID:14569132|PMID:15060124|PMID:15146469|PMID:15207265|PMID:1568246|PMID:15863657|PMID:16138229|PMID:16199547|PMID:16513807|PMID:16528606|PMID:16542390|PMID:16835897|PMID:16944272|PMID:17160901|PMID:17426081|PMID:17726231|PMID:18041031|PMID:18183640|PMID:18800150|PMID:190611|PMID:19076627|PMID:19120036|PMID:20301288|PMID:20602485|PMID:20844836|PMID:21354044|PMID:21520333|PMID:21532985|PMID:22034633|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22703879|PMID:22962301|PMID:22965773|PMID:23047742|PMID:23460398|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23913538|PMID:24033266|PMID:24218100|PMID:24357598|PMID:24413922|PMID:24463508|PMID:24654934|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24922668|PMID:25074460|PMID:25324867|PMID:25370043|PMID:25533962|PMID:25541118|PMID:25741868|PMID:25877891|PMID:25925892|PMID:26000329|PMID:26056819|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26467025|PMID:26489445|PMID:26510091|PMID:26580448|PMID:26706011|PMID:26740943|PMID:26969325|PMID:27069254|PMID:27074763|PMID:27322474|PMID:27498913|PMID:27793025|PMID:27838393|PMID:28422438|PMID:28492532|PMID:28825729|PMID:28873162|PMID:28976792|PMID:29089047|PMID:29290338|PMID:29415745|PMID:29483232|PMID:29522274|PMID:29872168|PMID:29908077|PMID:29926981|PMID:30111351|PMID:30190611|PMID:30287823|PMID:30290804|PMID:30308447|PMID:30530636|PMID:30632835|PMID:30877234|PMID:31159747|PMID:31160754|PMID:31308404|PMID:31370276|PMID:31422574|PMID:31533797|PMID:31766501|PMID:32566746|PMID:33046013|PMID:33322618|PMID:33471991|PMID:33540839|PMID:33562071|PMID:35885913|PMID:36988593|PMID:7655472|PMID:7904209|PMID:7981679|PMID:8317503|PMID:9042399|PMID:9654211|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:9002453 Cafe-au-Lait Spots ISO RGD:737471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cafe-au-lait spot PMID:10607834|PMID:10712197|PMID:12112660|PMID:12807981|PMID:16199547|PMID:16835897|PMID:16944272|PMID:17668375|PMID:19738042|PMID:21520333|PMID:22155606|PMID:22190595|PMID:23404336|PMID:23656349|PMID:23913538|PMID:25324867|PMID:25325900|PMID:25741868|PMID:26467025|PMID:26908603|PMID:26973730|PMID:27171602|PMID:27482814|PMID:28492532|PMID:29089047|PMID:29522274|PMID:31717729|PMID:33372952|PMID:33471991|PMID:34080803 11672668 NF1 neurofibromin 1 gene DOID:9002498 Wallerian Degeneration ISO RGD:3168 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve: PMID:8847098|REF_RGD_ID:12790590 11672668 NF1 neurofibromin 1 gene DOID:9004158 diffuse intrinsic pontine glioma ISO RGD:737471 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma PMID:25741868|PMID:28492532 11672668 NF1 neurofibromin 1 gene DOID:9004217 Nerve Sheath Neoplasms ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20176786|PMID:25240281 11672668 NF1 neurofibromin 1 gene DOID:9005120 Pigmented Nevus ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 11672668 NF1 neurofibromin 1 gene DOID:9005235 Neurofibromatosis, Familial Spinal ISO RGD:737471 D RGD:7240710 20180130 OMIM 11672668 NF1 neurofibromin 1 gene DOID:9005235 Neurofibromatosis, Familial Spinal ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, familial spinal | ClinVar Annotator: match by term: Spinal neurofibromas PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10677298|PMID:10678181|PMID:10712197|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11704931|PMID:11735023|PMID:11857752|PMID:12095621|PMID:12112660|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12807981|PMID:14517963|PMID:14569132|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:1568246|PMID:1568247|PMID:15858190|PMID:15863657|PMID:16138229|PMID:16199547|PMID:16380919|PMID:16479075|PMID:16513807|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16944272|PMID:16961930|PMID:17160901|PMID:17295913|PMID:17311297|PMID:17426081|PMID:1745350|PMID:1757093|PMID:17576681|PMID:17712740|PMID:17726231|PMID:1783401|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18546366|PMID:18800150|PMID:190611|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:20301288|PMID:20602485|PMID:20605257|PMID:2114220|PMID:21271658|PMID:21354044|PMID:21512413|PMID:21520333|PMID:21532985|PMID:22034633|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22207399|PMID:22703879|PMID:22807134|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23047742|PMID:23244495|PMID:23460398|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23913538|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24463508|PMID:24654934|PMID:24676943|PMID:24694336|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25741868|PMID:25810463|PMID:25877891|PMID:25925892|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26580448|PMID:26635368|PMID:26706011|PMID:26740943|PMID:26758488|PMID:26840085|PMID:26962827|PMID:26969325|PMID:27069254|PMID:27074763|PMID:27322474|PMID:27498913|PMID:27716896|PMID:27793025|PMID:27838393|PMID:28130400|PMID:28422438|PMID:28492532|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28976792|PMID:29082380|PMID:29089047|PMID:29290338|PMID:29415745|PMID:29483232|PMID:29522274|PMID:29625052|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:30014477|PMID:30086788|PMID:30111351|PMID:30190611|PMID:30287823|PMID:30290804|PMID:30308447|PMID:30530636|PMID:30632835|PMID:30877234|PMID:31159747|PMID:31160754|PMID:31308404|PMID:31370276|PMID:31422574|PMID:31533651|PMID:31533797|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31882575|PMID:32107864|PMID:32126153|PMID:32566746|PMID:32980694|PMID:33046013|PMID:33322618|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33674644|PMID:34080803|PMID:34418705|PMID:35024939|PMID:35091509|PMID:35264596|PMID:35885913|PMID:36988593|PMID:7607663|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8669813|PMID:8829638|PMID:8845843|PMID:9003501|PMID:9042399|PMID:9109662|PMID:9132486|PMID:9150739|PMID:9219684|PMID:9219873|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9529361|PMID:9536098|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11431704|PMID:11459867|PMID:11476066|PMID:11704931|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15523626|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16306205|PMID:16380919|PMID:16414076|PMID:16479075|PMID:16513807|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17160901|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19292874|PMID:19449407|PMID:19738042|PMID:19845691|PMID:20186797|PMID:20602485|PMID:20605257|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21838856|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22222937|PMID:22608206|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22869071|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23913538|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24586880|PMID:24654934|PMID:24694336|PMID:24710307|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25541118|PMID:25612910|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27069254|PMID:27074763|PMID:27171602|PMID:27322474|PMID:27482814|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28166811|PMID:28422438|PMID:28492532|PMID:28529006|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29089047|PMID:29100083|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29483232|PMID:29489754|PMID:29522274|PMID:29618358|PMID:29673180|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30014477|PMID:30087692|PMID:30093976|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30308447|PMID:30530636|PMID:30632835|PMID:30977107|PMID:31159747|PMID:31160754|PMID:31206626|PMID:31301733|PMID:31347283|PMID:31370276|PMID:31422574|PMID:31443423|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31882575|PMID:32107864|PMID:32126153|PMID:32566746|PMID:32581362 11672668 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32860008|PMID:33046013|PMID:33121128|PMID:33443663|PMID:33471991|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11431704|PMID:11459867|PMID:11476066|PMID:11704931|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15523626|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16306205|PMID:16380919|PMID:16414076|PMID:16479075|PMID:16513807|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17160901|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19292874|PMID:19449407|PMID:19738042|PMID:19845691|PMID:20186797|PMID:20602485|PMID:20605257|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21838856|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22222937|PMID:22608206|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22869071|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23913538|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24586880|PMID:24654934|PMID:24694336|PMID:24710307|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25541118|PMID:25612910|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27069254|PMID:27074763|PMID:27171602|PMID:27322474|PMID:27482814|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27854218|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28166811|PMID:28422438|PMID:28492532|PMID:28529006|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29089047|PMID:29100083|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29483232|PMID:29489754|PMID:29522274|PMID:29618358|PMID:29673180|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30014477|PMID:30087692|PMID:30093976|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30308447|PMID:30530636|PMID:30632835|PMID:30977107|PMID:31159747|PMID:31160754|PMID:31206626|PMID:31301733|PMID:31347283|PMID:31370276|PMID:31422574|PMID:31443423|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31882575|PMID:32107864|PMID:32126153|PMID:32566746 11672668 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32581362|PMID:32860008|PMID:33046013|PMID:33121128|PMID:33443663|PMID:33471991|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11431704|PMID:11459867|PMID:11476066|PMID:11704931|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12387455|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15523626|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16306205|PMID:16380919|PMID:16397625|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17160901|PMID:17187824|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:18021924|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:19321438|PMID:19449407|PMID:19738042|PMID:19823873|PMID:19845691|PMID:19920235|PMID:20186797|PMID:20301288|PMID:20602485|PMID:20605257|PMID:20844836|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21732117|PMID:21838856|PMID:22034633|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22222937|PMID:22426308|PMID:22608206|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22869071|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24463508|PMID:24506781|PMID:24586880|PMID:24654934|PMID:24675358|PMID:24694336|PMID:24710307|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24916674|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25612910|PMID:25733387|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25938944|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28166811|PMID:28422438|PMID:28492532|PMID:28529006|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29483232 11672668 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29618358|PMID:29625052|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30192042|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30308447|PMID:30530636|PMID:30531922|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30977107|PMID:31066482|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31347283|PMID:31370276|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31874108|PMID:31882575|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32359129|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32581362|PMID:32582540|PMID:32743991|PMID:32860008|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33673681|PMID:33674644|PMID:34080803|PMID:34392670|PMID:34646065|PMID:34782607|PMID:34860164|PMID:35091509|PMID:35101336|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11431704|PMID:11459867|PMID:11476066|PMID:11704931|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12387455|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:15523626|PMID:15523642|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16306205|PMID:16380919|PMID:16397625|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17160901|PMID:17187824|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17668375|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:18021924|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:19321438|PMID:19449407|PMID:19738042|PMID:19823873|PMID:19845691|PMID:19920235|PMID:20015894|PMID:20186797|PMID:20301288|PMID:20602485|PMID:20605257|PMID:20844836|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21732117|PMID:21838856|PMID:22034633|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22222937|PMID:22426308|PMID:22608206|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22869071|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24463508|PMID:24506781|PMID:24586880|PMID:24654934|PMID:24675358|PMID:24694336|PMID:24710307|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24916674|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25612910|PMID:25733387|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25925892|PMID:25938944|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28166811|PMID:28422438|PMID:28492532|PMID:28529006|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29082380|PMID:29089047|PMID:29100083 11672668 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29483232|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29618358|PMID:29625052|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30308447|PMID:30530636|PMID:30531922|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30877234|PMID:30977107|PMID:31066482|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31874108|PMID:31882575|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32359129|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32581362|PMID:32582540|PMID:32743991|PMID:32860008|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33674644|PMID:34012022|PMID:34080803|PMID:34392670|PMID:34427956|PMID:34646065|PMID:34694046|PMID:34782607|PMID:34860164|PMID:34988040|PMID:35091509|PMID:35101336|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28976792|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29483232|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29618358|PMID:29625052|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30531922|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30877234|PMID:30977107|PMID:31066482|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31874108|PMID:31882575|PMID:32052251|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32133419|PMID:32359129|PMID:32427313|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32581362|PMID:32582540|PMID:32743991|PMID:32860008|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33804961|PMID:34012022|PMID:34080803|PMID:34392670|PMID:34427956|PMID:34489640|PMID:34646065|PMID:34694046|PMID:34782607|PMID:34860164|PMID:34988040|PMID:35091509|PMID:35101336|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11292340|PMID:11431704|PMID:11476066|PMID:11704931|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12387455|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:15523626|PMID:15523642|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16306205|PMID:16380919|PMID:16397625|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17114577|PMID:17160901|PMID:17187824|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17668375|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:17960768|PMID:18021924|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:19321438|PMID:19449407|PMID:19738042|PMID:19823873|PMID:19845691|PMID:19920235|PMID:20015894|PMID:20186797|PMID:20301288|PMID:20602485|PMID:20605257|PMID:20844836|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21512413|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21732117|PMID:21838856|PMID:22034633|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22222937|PMID:22426308|PMID:22608206|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22869071|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24463508|PMID:24506781|PMID:24586880|PMID:24654934|PMID:24675358|PMID:24676424|PMID:24676943|PMID:24694336|PMID:24710307|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24916674|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25612910|PMID:25733387|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25925892|PMID:25938944|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27305697|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28422438|PMID:28492532|PMID:28529006|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274 11672668 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11292340|PMID:11431704|PMID:11476066|PMID:11704931|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12387455|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:15523626|PMID:15523642|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16306205|PMID:16380919|PMID:16397625|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16740526|PMID:16773574|PMID:16786508|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17114577|PMID:17160901|PMID:17187824|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17668375|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:17960768|PMID:18021924|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:19321438|PMID:19449407|PMID:19738042|PMID:19823873|PMID:19845691|PMID:19920235|PMID:20015894|PMID:20186797|PMID:20301288|PMID:20358387|PMID:20602485|PMID:20605257|PMID:20844836|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21512413|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21732117|PMID:21838856|PMID:22034633|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22222937|PMID:22426308|PMID:22608206|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22869071|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23624750|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24463508|PMID:24506781|PMID:24586880|PMID:24654934|PMID:24675358|PMID:24676424|PMID:24676943|PMID:24694336|PMID:24710307|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24916674|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25612910|PMID:25733387|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25925892|PMID:25938944|PMID:25966637|PMID:26000329|PMID:26017449|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27305697|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28422438|PMID:28492532|PMID:28529006 11672668 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29483232|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29618358|PMID:29625052|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30531922|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30877234|PMID:30977107|PMID:31066482|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31476437|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31836666|PMID:31874108|PMID:31882575|PMID:32005694|PMID:32052251|PMID:32056211|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32133419|PMID:32359129|PMID:32427313|PMID:32533764|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32581362|PMID:32582540|PMID:32743991|PMID:32860008|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33804961|PMID:34012022|PMID:34080803|PMID:34284872|PMID:34392670|PMID:34418705|PMID:34427956|PMID:34489640|PMID:34598035|PMID:34646065|PMID:34694046|PMID:34707296|PMID:34782607|PMID:34860164|PMID:34887559|PMID:34988040|PMID:35039564|PMID:35091509|PMID:35101336|PMID:35264596|PMID:35353986|PMID:35836575|PMID:35885913|PMID:36988593|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9544853|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:9007748 Retinal Neovascularization ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29847659 11672668 NF1 neurofibromin 1 gene DOID:9007769 Pseudarthrosis ISO RGD:3168 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cartilage" PMID:8820972|REF_RGD_ID:12789703 11672668 NF1 neurofibromin 1 gene DOID:9007908 Aortic Coarctation ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Midaortic syndrome PMID:10712197|PMID:10862084|PMID:12552569|PMID:15146469|PMID:16199547|PMID:16513807|PMID:16944272|PMID:17576681|PMID:23637863|PMID:23668869|PMID:23758643|PMID:23913538|PMID:24413922|PMID:24654934|PMID:25074460|PMID:25741868|PMID:26088551|PMID:28492532|PMID:29290338|PMID:29483232|PMID:29926981|PMID:30287823|PMID:30308447|PMID:30530636|PMID:31160754|PMID:36988593|PMID:9536098 11672668 NF1 neurofibromin 1 gene DOID:9007956 Febrile Seizures ISO RGD:737471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Febrile seizures PMID:21520333|PMID:23656349|PMID:25741868|PMID:28492532|PMID:29089047|PMID:33471991 11672668 NF1 neurofibromin 1 gene DOID:9008086 Developmental Disabilities ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 11672668 NF1 neurofibromin 1 gene DOID:9008342 Johnson Munson Syndrome ISO RGD:737471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aphalangy of the hands and feet, hemivertebrae, and visceral malformations PMID:25741868|PMID:28492532 11672668 NF1 neurofibromin 1 gene DOID:9008763 Femoral Fractures ISO RGD:10973 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cartilage" PMID:8820972|REF_RGD_ID:12789703 11672668 NF1 neurofibromin 1 gene DOID:9119 acute myeloid leukemia ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21441929|PMID:25822087 11672668 NF1 neurofibromin 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:737471 D RGD:9068941 20200609 RGD PMID:12518368|REF_RGD_ID:12754447 11672668 NF1 neurofibromin 1 gene DOID:9119 acute myeloid leukemia severity ISO RGD:737471 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:23460398|REF_RGD_ID:12789444 11672668 NF1 neurofibromin 1 gene DOID:9538 multiple myeloma ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11672668 NF1 neurofibromin 1 gene DOID:962 neurofibroma ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurofibroma PMID:10712197|PMID:12807981|PMID:16199547|PMID:16835897|PMID:16944272|PMID:17103458|PMID:17311297|PMID:18546366|PMID:19449407|PMID:21031597|PMID:23758643|PMID:23913538|PMID:25741868|PMID:25788518|PMID:26467025|PMID:26514327|PMID:27074763|PMID:28068329|PMID:28492532|PMID:28955729|PMID:29618358|PMID:30290804|PMID:31476437|PMID:31533651|PMID:31717729|PMID:31766501|PMID:31776437|PMID:32005694|PMID:32056211|PMID:32533764|PMID:32581362|PMID:34080803|PMID:34427956|PMID:9783703 11672743 ADPGK ADP dependent glucokinase gene DOID:0110225 Brugada syndrome 8 ISO RGD:1353628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 11672743 ADPGK ADP dependent glucokinase gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11672743 ADPGK ADP dependent glucokinase gene DOID:2717 Bloom syndrome ISO RGD:1353628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11672743 ADPGK ADP dependent glucokinase gene DOID:3320 Tay-Sachs disease ISO RGD:1353628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 11672743 ADPGK ADP dependent glucokinase gene DOID:5419 schizophrenia ISO RGD:1353628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11672743 ADPGK ADP dependent glucokinase gene DOID:630 genetic disease ISO RGD:1353628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11672743 ADPGK ADP dependent glucokinase gene DOID:9256 colorectal cancer ISO RGD:1353628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11672756 WDR12 WD repeat domain 12 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1353160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11672756 WDR12 WD repeat domain 12 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1353160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11672756 WDR12 WD repeat domain 12 gene DOID:12930 dilated cardiomyopathy ISO RGD:1353160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25915632 11672756 WDR12 WD repeat domain 12 gene DOID:14557 primary pulmonary hypertension ISO RGD:1353160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11672756 WDR12 WD repeat domain 12 gene DOID:3393 coronary artery disease ISO RGD:1353160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 11672756 WDR12 WD repeat domain 12 gene DOID:5844 myocardial infarction ISO RGD:1353160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19198609|PMID:25915632 11672756 WDR12 WD repeat domain 12 gene DOID:630 genetic disease ISO RGD:1353160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11672756 WDR12 WD repeat domain 12 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1353160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 11672756 WDR12 WD repeat domain 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11672756 WDR12 WD repeat domain 12 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1353160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11672774 CACNG8 calcium voltage-gated channel auxiliary subunit gamma 8 gene DOID:10939 antisocial personality disorder ISO RGD:732323 D RGD:9068941 20220825 MouseDO 11672774 CACNG8 calcium voltage-gated channel auxiliary subunit gamma 8 gene DOID:12930 dilated cardiomyopathy ISO RGD:732322 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:left ventricule: PMID:26710323|REF_RGD_ID:11353143 11672774 CACNG8 calcium voltage-gated channel auxiliary subunit gamma 8 gene DOID:630 genetic disease ISO RGD:732322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11672783 NALCN sodium leak channel, non-selective gene DOID:0060041 autism spectrum disorder ISO RGD:733715 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30504930 11672783 NALCN sodium leak channel, non-selective gene DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome ISO RGD:733715 D RGD:7240710 20180130 OMIM 11672783 NALCN sodium leak channel, non-selective gene DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome ISO RGD:733715 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay PMID:25683120|PMID:25741868|PMID:25864427|PMID:26763878|PMID:26938784|PMID:27473021|PMID:27633718|PMID:27681385|PMID:28327206|PMID:28333917|PMID:28454995|PMID:28492532|PMID:30167850|PMID:32698188 11672783 NALCN sodium leak channel, non-selective gene DOID:0110878 holoprosencephaly 5 ISO RGD:733715 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 11672783 NALCN sodium leak channel, non-selective gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:733715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:27214504|PMID:31680123 11672783 NALCN sodium leak channel, non-selective gene DOID:1059 intellectual disability ISO RGD:733715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11672783 NALCN sodium leak channel, non-selective gene DOID:14701 propionic acidemia ISO RGD:733715 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 11672783 NALCN sodium leak channel, non-selective gene DOID:1826 epilepsy ISO RGD:733715 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:26923739 11672783 NALCN sodium leak channel, non-selective gene DOID:630 genetic disease ISO RGD:733715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25683120|PMID:25741868|PMID:25864427|PMID:26763878|PMID:27214504|PMID:27473021|PMID:28133733|PMID:28327206|PMID:28454995|PMID:28492532|PMID:29610177 11672783 NALCN sodium leak channel, non-selective gene DOID:9001769 Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis ISO RGD:733715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability with episodic ataxia and congenital arthrogryposis PMID:25683120|PMID:25741868|PMID:25864427|PMID:26763878|PMID:28454995|PMID:28492532 11672783 NALCN sodium leak channel, non-selective gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:733715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11672783 NALCN sodium leak channel, non-selective gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11672783 NALCN sodium leak channel, non-selective gene DOID:9006534 Nervous System Malformations ISO RGD:733715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11672783 NALCN sodium leak channel, non-selective gene DOID:9006603 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies ISO RGD:733715 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies PMID:25741868 11672783 NALCN sodium leak channel, non-selective gene DOID:9008582 Developmental Disease ISO RGD:733715 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11672783 NALCN sodium leak channel, non-selective gene DOID:9008988 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1 ISO RGD:733715 D RGD:7240710 20180130 OMIM 11672783 NALCN sodium leak channel, non-selective gene DOID:9008988 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1 ISO RGD:733715 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:23749988|PMID:24075186|PMID:25741868|PMID:28492532|PMID:29168298|PMID:29610177|PMID:30167850|PMID:30293248 11672836 FAM32A family with sequence similarity 32 member A gene DOID:630 genetic disease ISO RGD:1316761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11672845 FBXO39 F-box protein 39 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1322937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11672845 FBXO39 F-box protein 39 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1322937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 11672845 FBXO39 F-box protein 39 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1322937 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11672845 FBXO39 F-box protein 39 gene DOID:12177 common variable immunodeficiency ISO RGD:1322937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11672845 FBXO39 F-box protein 39 gene DOID:2729 dyskeratosis congenita ISO RGD:1322937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11672845 FBXO39 F-box protein 39 gene DOID:630 genetic disease ISO RGD:1322937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11672853 RAB2A RAB2A, member RAS oncogene family gene DOID:0050834 CHARGE syndrome ISO RGD:68446 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:18413373|PMID:19772954|PMID:22258531|PMID:22902603|PMID:28492532 11672853 RAB2A RAB2A, member RAS oncogene family gene DOID:11612 polycystic ovary syndrome ISO RGD:68446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11672853 RAB2A RAB2A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:68446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11672865 ZNF655 zinc finger protein 655 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11672865 ZNF655 zinc finger protein 655 gene DOID:630 genetic disease ISO RGD:1351627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11672893 ZNF670 zinc finger protein 670 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1603930 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11672893 ZNF670 zinc finger protein 670 gene DOID:13938 amenorrhea ISO RGD:1603930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11672893 ZNF670 zinc finger protein 670 gene DOID:1540 parathyroid carcinoma ISO RGD:1603930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11672893 ZNF670 zinc finger protein 670 gene DOID:630 genetic disease ISO RGD:1603930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11672893 ZNF670 zinc finger protein 670 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11672911 WWC2 WW and C2 domain containing 2 gene DOID:2843 long QT syndrome ISO RGD:1605043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11672911 WWC2 WW and C2 domain containing 2 gene DOID:630 genetic disease ISO RGD:1605043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11672937 TRERF1 transcriptional regulating factor 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1316196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11672937 TRERF1 transcriptional regulating factor 1 gene DOID:630 genetic disease ISO RGD:1316196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11672937 TRERF1 transcriptional regulating factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1316196 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19075277 11672937 TRERF1 transcriptional regulating factor 1 gene DOID:905 Zellweger syndrome ISO RGD:1316196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11672994 SEH1L SEH1 like nucleoporin gene DOID:0050591 tooth agenesis ISO RGD:1352568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tooth agenesis 11672994 SEH1L SEH1 like nucleoporin gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1352568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11672994 SEH1L SEH1 like nucleoporin gene DOID:1059 intellectual disability ISO RGD:1352568 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11672994 SEH1L SEH1 like nucleoporin gene DOID:630 genetic disease ISO RGD:1352568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673013 ITGB8 integrin subunit beta 8 gene DOID:0050589 inflammatory bowel disease ISO RGD:1322799 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28067908 11673013 ITGB8 integrin subunit beta 8 gene DOID:0080600 COVID-19 ISO RGD:1322799 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11673013 ITGB8 integrin subunit beta 8 gene DOID:289 endometriosis ISO RGD:1322799 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11673013 ITGB8 integrin subunit beta 8 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11673013 ITGB8 integrin subunit beta 8 gene DOID:630 genetic disease ISO RGD:1322799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673013 ITGB8 integrin subunit beta 8 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1322799 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11673031 TAF8 TATA-box binding protein associated factor 8 gene DOID:0050444 infantile Refsum disease ISO RGD:1318181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11673031 TAF8 TATA-box binding protein associated factor 8 gene DOID:630 genetic disease ISO RGD:1318181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673031 TAF8 TATA-box binding protein associated factor 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318181 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 11673031 TAF8 TATA-box binding protein associated factor 8 gene DOID:9007324 NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY ISO RGD:1318181 D RGD:7240710 20221221 OMIM 11673031 TAF8 TATA-box binding protein associated factor 8 gene DOID:9007324 NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY ISO RGD:1318181 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy PMID:25741868|PMID:29648665|PMID:35759269 11673031 TAF8 TATA-box binding protein associated factor 8 gene DOID:9007462 Partial Agenesis of Corpus Callosum ISO RGD:1318181 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Partial agenesis of the corpus callosum PMID:25741868|PMID:29648665|PMID:35759269 11673031 TAF8 TATA-box binding protein associated factor 8 gene DOID:905 Zellweger syndrome ISO RGD:1318181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11673050 CLEC6A C-type lectin domain containing 6A gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1351045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11673050 CLEC6A C-type lectin domain containing 6A gene DOID:0060758 immunodeficiency with hyper-IgM type 2 ISO RGD:1351045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 PMID:16964591|PMID:28492532 11673050 CLEC6A C-type lectin domain containing 6A gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1351045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11673050 CLEC6A C-type lectin domain containing 6A gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1351045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11673050 CLEC6A C-type lectin domain containing 6A gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1351045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11673050 CLEC6A C-type lectin domain containing 6A gene DOID:0111621 Temtamy syndrome ISO RGD:1351045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11673050 CLEC6A C-type lectin domain containing 6A gene DOID:630 genetic disease ISO RGD:1351045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673050 CLEC6A C-type lectin domain containing 6A gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1351045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11673061 RPL31 ribosomal protein L31 gene DOID:630 genetic disease ISO RGD:734080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673061 RPL31 ribosomal protein L31 gene DOID:9008939 Breast Neoplasms ISO RGD:734080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 11673073 NR2E1 nuclear receptor subfamily 2 group E member 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1346337 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 11673073 NR2E1 nuclear receptor subfamily 2 group E member 1 gene DOID:630 genetic disease ISO RGD:1346337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673086 IRF2BP2 interferon regulatory factor 2 binding protein 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1603839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25583766 11673086 IRF2BP2 interferon regulatory factor 2 binding protein 2 gene DOID:0060706 X-linked lymphoproliferative syndrome 2 ISO RGD:1603839 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked PMID:25741868|PMID:28492532 11673086 IRF2BP2 interferon regulatory factor 2 binding protein 2 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1603839 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:25741868 11673086 IRF2BP2 interferon regulatory factor 2 binding protein 2 gene DOID:0081156 common variable immunodeficiency 14 ISO RGD:1603839 D RGD:7240710 20190315 OMIM 11673086 IRF2BP2 interferon regulatory factor 2 binding protein 2 gene DOID:0081156 common variable immunodeficiency 14 ISO RGD:1603839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 PMID:24033266|PMID:25741868|PMID:27016798|PMID:28492532 11673086 IRF2BP2 interferon regulatory factor 2 binding protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1603839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11673086 IRF2BP2 interferon regulatory factor 2 binding protein 2 gene DOID:630 genetic disease ISO RGD:1603839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11673086 IRF2BP2 interferon regulatory factor 2 binding protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11673099 DNAJA2 DnaJ heat shock protein family (Hsp40) member A2 gene DOID:0111041 glycogen storage disease IXb ISO RGD:732533 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 11673099 DNAJA2 DnaJ heat shock protein family (Hsp40) member A2 gene DOID:409 liver disease ISO RGD:71001 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:15270078|REF_RGD_ID:4891447 11673099 DNAJA2 DnaJ heat shock protein family (Hsp40) member A2 gene DOID:630 genetic disease ISO RGD:732533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673112 CYRIA CYFIP related Rac1 interactor A gene DOID:5723 optic atrophy ISO RGD:1348694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:32581362 11673112 CYRIA CYFIP related Rac1 interactor A gene DOID:630 genetic disease ISO RGD:1348694 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673112 CYRIA CYFIP related Rac1 interactor A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:0001816 angiosarcoma ISO RGD:736032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:0060680 pigment dispersion syndrome ISO RGD:736033 D RGD:9068941 20220825 MouseDO OMIM:600510 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:736032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:0080600 COVID-19 ISO RGD:736032 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:736032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:0110266 cataract 9 multiple types ISO RGD:736032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:10584 retinitis pigmentosa ISO RGD:736032 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29977801 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:1059 intellectual disability ISO RGD:736032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:10808 gastric ulcer ISO RGD:70936 D RGD:9068941 20200609 RGD Protein:decreased expression:serum PMID:11353854|REF_RGD_ID:1600910 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:12849 autistic disorder ISO RGD:736032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:1289 neurodegenerative disease ISO RGD:736032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive neurodegenerative disease PMID:25741868|PMID:28492532|PMID:31623504 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:13550 angle-closure glaucoma ISO RGD:736032 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Glaucoma, primary closed-angle PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:26467025|PMID:28041643|PMID:28492532|PMID:29977801|PMID:30007336|PMID:31623504 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:1405 primary angle-closure glaucoma ISO RGD:736032 D RGD:7240710 20200715 OMIM 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:182 calcinosis ISO RGD:736032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:1826 epilepsy ISO RGD:736032 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:4079 heart valve disease ISO RGD:736032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:4448 macular degeneration ISO RGD:736032 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29977801 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:630 genetic disease ISO RGD:736032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28714951|PMID:29738522|PMID:9536098 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:684 hepatocellular carcinoma severity ISO RGD:70936 D RGD:9068941 20200609 RGD Protein:increased expression PMID:15739185|REF_RGD_ID:1600906 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:83 cataract ISO RGD:736032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract PMID:12415512|PMID:16199547|PMID:19390655|PMID:25456301|PMID:28492532 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:8501 fundus dystrophy ISO RGD:736032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29977801|PMID:32581362 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:8577 ulcerative colitis ISO RGD:70936 D RGD:9068941 20200609 RGD Protein:increased expression:large intestine mucosa PMID:17011522|REF_RGD_ID:1600887 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:891 progressive myoclonus epilepsy ISO RGD:736032 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:9000784 Fibrosis ISO RGD:70936 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11592600|REF_RGD_ID:632362 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:9002033 Knobloch Syndrome ISO RGD:736032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Knobloch syndrome PMID:10942434|PMID:12415512|PMID:14695535|PMID:1554013|PMID:16199547|PMID:17546652|PMID:17576681|PMID:17975799|PMID:19160445|PMID:19390655|PMID:20799329|PMID:20979194|PMID:21862674|PMID:21937992|PMID:23667181|PMID:24033266|PMID:25456301|PMID:25741868|PMID:26467025|PMID:27259167|PMID:28041643|PMID:28144890|PMID:28492532|PMID:29977801|PMID:30007336|PMID:31415705|PMID:32581362|PMID:32860008|PMID:9536098 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:9002525 Hereditary Eye Diseases susceptibility ISO RGD:736032 D RGD:9068941 20200609 RGD Knobloch syndrome, OMIM:267750;DNA:deletion: :c.3514delCT PMID:12415512|REF_RGD_ID:1600885 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:9002766 Knobloch Syndrome Type I ISO RGD:736032 D RGD:7240710 20220727 OMIM 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:9002766 Knobloch Syndrome Type I ISO RGD:736032 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Knobloch syndrome 1 PMID:12415512|PMID:23667181|PMID:25456301|PMID:25741868|PMID:27259167|PMID:28144890|PMID:28492532|PMID:31415705 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:9002928 Colonic Neoplasms severity ISO RGD:70936 D RGD:9068941 20200609 RGD PMID:16437622|REF_RGD_ID:1600901 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:9005233 Experimental Mammary Neoplasms severity ISO RGD:70936 D RGD:9068941 20200609 RGD PMID:10766159|REF_RGD_ID:70690 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:9263 homocystinuria ISO RGD:736032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:9562 primary ciliary dyskinesia ISO RGD:736032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11673169 MAP7D3 MAP7 domain containing 3 gene DOID:0060022 CD40 ligand deficiency ISO RGD:1606231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11673169 MAP7D3 MAP7 domain containing 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11673169 MAP7D3 MAP7 domain containing 3 gene DOID:0060825 Christianson syndrome ISO RGD:1606231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11673169 MAP7D3 MAP7 domain containing 3 gene DOID:12849 autistic disorder ISO RGD:1606231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11673169 MAP7D3 MAP7 domain containing 3 gene DOID:630 genetic disease ISO RGD:1606231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673169 MAP7D3 MAP7 domain containing 3 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1606231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11673169 MAP7D3 MAP7 domain containing 3 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1606231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Visceral heterotaxia PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11673198 TMEM9B TMEM9 domain family member B gene DOID:630 genetic disease ISO RGD:1321873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673212 CDK10 cyclin dependent kinase 10 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1312526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 11673212 CDK10 cyclin dependent kinase 10 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1312526 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11673212 CDK10 cyclin dependent kinase 10 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1312526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:23613520 11673212 CDK10 cyclin dependent kinase 10 gene DOID:13636 Fanconi anemia ISO RGD:1312526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 11673212 CDK10 cyclin dependent kinase 10 gene DOID:14780 KBG syndrome ISO RGD:1312526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 11673212 CDK10 cyclin dependent kinase 10 gene DOID:630 genetic disease ISO RGD:1312526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26539891|PMID:29130579 11673212 CDK10 cyclin dependent kinase 10 gene DOID:9003087 Al Kaissi Syndrome ISO RGD:1312526 D RGD:7240710 20190315 OMIM 11673212 CDK10 cyclin dependent kinase 10 gene DOID:9003087 Al Kaissi Syndrome ISO RGD:1312526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Al Kaissi syndrome PMID:25741868|PMID:26539891|PMID:28886341|PMID:29130579 11673212 CDK10 cyclin dependent kinase 10 gene DOID:9008086 Developmental Disabilities ISO RGD:1312526 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11673250 UCKL1 uridine-cytidine kinase 1 like 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1342858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11673250 UCKL1 uridine-cytidine kinase 1 like 1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1342858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11673250 UCKL1 uridine-cytidine kinase 1 like 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1342858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11673250 UCKL1 uridine-cytidine kinase 1 like 1 gene DOID:630 genetic disease ISO RGD:1342858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673281 BBIP1 BBSome interacting protein 1 gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:2300355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 11673281 BBIP1 BBSome interacting protein 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:2300355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia 11673281 BBIP1 BBSome interacting protein 1 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:2300355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:24026985 11673281 BBIP1 BBSome interacting protein 1 gene DOID:0110140 Bardet-Biedl syndrome 18 ISO RGD:2300355 D RGD:7240710 20180130 OMIM 11673281 BBIP1 BBSome interacting protein 1 gene DOID:0110140 Bardet-Biedl syndrome 18 ISO RGD:2300355 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 18 PMID:17576681|PMID:24026985|PMID:25741868|PMID:28492532|PMID:32055034|PMID:32552793|PMID:9536098 11673281 BBIP1 BBSome interacting protein 1 gene DOID:0110447 dilated cardiomyopathy 1DD ISO RGD:2300355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:28492532 11673281 BBIP1 BBSome interacting protein 1 gene DOID:630 genetic disease ISO RGD:2300355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11673321 MAN1A1 mannosidase alpha class 1A member 1 gene DOID:1059 intellectual disability ISO RGD:1322054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 11673321 MAN1A1 mannosidase alpha class 1A member 1 gene DOID:10907 microcephaly ISO RGD:1322054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 11673321 MAN1A1 mannosidase alpha class 1A member 1 gene DOID:1826 epilepsy ISO RGD:1322054 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11673321 MAN1A1 mannosidase alpha class 1A member 1 gene DOID:630 genetic disease ISO RGD:1322054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673321 MAN1A1 mannosidase alpha class 1A member 1 gene DOID:9000495 Tremor ISO RGD:1322054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 11673339 RETN resistin gene DOID:0060180 colitis treatment ISO RGD:628781 D RGD:9068941 20200609 RGD PMID:22630819|REF_RGD_ID:7207222 11673339 RETN resistin gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1349693 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 11673339 RETN resistin gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:628781 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20560816|REF_RGD_ID:7207249 11673339 RETN resistin gene DOID:0080490 mucolipidosis type IV ISO RGD:1349693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11673339 RETN resistin gene DOID:0080600 COVID-19 ISO RGD:1349693 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 11673339 RETN resistin gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1349693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 11673339 RETN resistin gene DOID:10763 hypertension ISO RGD:1349693 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:*62A>G (human) PMID:12629116|REF_RGD_ID:1624968 11673339 RETN resistin gene DOID:11054 urinary bladder cancer ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:18373357|REF_RGD_ID:7207154 11673339 RETN resistin gene DOID:114 heart disease ISO RGD:1349693 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic;protein:increased expression:serum PMID:15670203|REF_RGD_ID:7207157 11673339 RETN resistin gene DOID:11400 pyelonephritis ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20178460|REF_RGD_ID:7207160 11673339 RETN resistin gene DOID:11714 gestational diabetes ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19408175|REF_RGD_ID:2307186 11673339 RETN resistin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1349693 D RGD:9068941 20200609 RGD DNA, protein:SNP, increased expression:promoter, serum:-420G>C (rs1862513) (human) PMID:20171599|REF_RGD_ID:7207251 11673339 RETN resistin gene DOID:4676 uremia ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:increased expression:adipose tissue PMID:23058473|REF_RGD_ID:7207071 11673339 RETN resistin gene DOID:5844 myocardial infarction ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18997620|REF_RGD_ID:7207152 11673339 RETN resistin gene DOID:6000 congestive heart failure ISO RGD:1349693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 11673339 RETN resistin gene DOID:6000 congestive heart failure ISO RGD:1349693 D RGD:9068941 20200609 RGD associated with Coronary Disease PMID:22240747|REF_RGD_ID:7207075 11673339 RETN resistin gene DOID:630 genetic disease ISO RGD:1349693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673339 RETN resistin gene DOID:783 end stage renal disease ISO RGD:1349693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19539174 11673339 RETN resistin gene DOID:783 end stage renal disease severity ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22421264|REF_RGD_ID:7207074 11673339 RETN resistin gene DOID:784 chronic kidney disease ISO RGD:1349693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22421264 11673339 RETN resistin gene DOID:8947 diabetic retinopathy ISO RGD:1349693 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:17303077|REF_RGD_ID:7207162 11673339 RETN resistin gene DOID:9000528 Coronary Disease ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:17175295|REF_RGD_ID:7207156 11673339 RETN resistin gene DOID:9001542 Albuminuria ISO RGD:1349693 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:blood PMID:20203628|REF_RGD_ID:7207150 11673339 RETN resistin gene DOID:9002165 Diabetic Nephropathies ISO RGD:1349693 D RGD:9068941 20200609 RGD PMID:21425555|REF_RGD_ID:7207159 11673339 RETN resistin gene DOID:9004484 Sepsis ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19545363|REF_RGD_ID:7207151 11673339 RETN resistin gene DOID:9006359 Vitamin D Deficiency ISO RGD:628781 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:21994008|REF_RGD_ID:7207230 11673339 RETN resistin gene DOID:9006646 Metabolic Syndrome ISO RGD:1349693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18328350 11673339 RETN resistin gene DOID:9006646 Metabolic Syndrome ISO RGD:1349693 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-420C>G (human) PMID:17598818|REF_RGD_ID:7207155 11673339 RETN resistin gene DOID:9007096 Stroke ISO RGD:1349693 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:promoter:-420G>C (rs1862513) (human) PMID:19269054|REF_RGD_ID:2313497 11673339 RETN resistin gene DOID:9007692 Insulin Resistance ISO RGD:1349693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16493877 11673339 RETN resistin gene DOID:9007692 Insulin Resistance ISO RGD:1349693 D RGD:9068941 20200609 RGD PMID:18789551|REF_RGD_ID:2313499 11673339 RETN resistin gene DOID:9074 systemic lupus erythematosus ISO RGD:1349693 D RGD:9068941 20200609 RGD PMID:21885493|REF_RGD_ID:7207148 11673339 RETN resistin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO PMID:11558907|PMID:12629116 11673339 RETN resistin gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1349693 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-394C>G, -420G>C (rs1862513) (human) PMID:19381781|REF_RGD_ID:2313495 11673339 RETN resistin gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1349693 D RGD:7240710 20230505 OMIM 11673339 RETN resistin gene DOID:9743 diabetic neuropathy ISO RGD:1349693 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:17919381|REF_RGD_ID:7207161 11673339 RETN resistin gene DOID:9744 type 1 diabetes mellitus ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:15523596|REF_RGD_ID:7207163 11673339 RETN resistin gene DOID:9970 obesity ISO RGD:1349693 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-420C>G (human) PMID:17598818|REF_RGD_ID:7207155 11673339 RETN resistin gene DOID:9970 obesity ISO RGD:1349693 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:subcutaneous adipose tissue, serum PMID:22816026|REF_RGD_ID:7207072 11673339 RETN resistin gene DOID:9970 obesity ISO RGD:730829 D RGD:9068941 20200609 RGD PMID:11201732|REF_RGD_ID:7207158 11673339 RETN resistin gene DOID:9976 heroin dependence ISO RGD:1349693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15717844 11673348 FCGR1A Fc gamma receptor Ia gene DOID:1540 parathyroid carcinoma ISO RGD:1320511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11673348 FCGR1A Fc gamma receptor Ia gene DOID:182 calcinosis ISO RGD:1320511 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11673348 FCGR1A Fc gamma receptor Ia gene DOID:4079 heart valve disease ISO RGD:1320511 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11673348 FCGR1A Fc gamma receptor Ia gene DOID:630 genetic disease ISO RGD:1320511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673348 FCGR1A Fc gamma receptor Ia gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1320511 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11673348 FCGR1A Fc gamma receptor Ia gene DOID:7148 rheumatoid arthritis ISO RGD:1320511 D RGD:9068941 20200611 RGD protein:increased expression:synovial joint: PMID:16670289|REF_RGD_ID:9685708 11673348 FCGR1A Fc gamma receptor Ia gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320511 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11673348 FCGR1A Fc gamma receptor Ia gene DOID:9002211 Hyperalgesia ameliorates ISO RGD:1309912 D RGD:9068941 20210709 RGD PMID:32510872|REF_RGD_ID:127338469 11673348 FCGR1A Fc gamma receptor Ia gene DOID:9002457 Experimental Arthritis ISO RGD:10573 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:12875993 11673348 FCGR1A Fc gamma receptor Ia gene DOID:9002457 Experimental Arthritis ISO RGD:1309912 D RGD:9068941 20210709 RGD protein:increased expression:dorsal root ganglion PMID:32510872|REF_RGD_ID:127338469 11673348 FCGR1A Fc gamma receptor Ia gene DOID:9002457 Experimental Arthritis ISO RGD:1320511 D RGD:9068941 20200611 RGD PMID:16670289|REF_RGD_ID:9685708 11673348 FCGR1A Fc gamma receptor Ia gene DOID:9004610 Acute Lung Injury ISO RGD:1309912 D RGD:9068941 20200611 RGD PMID:19106808|REF_RGD_ID:5147925 11673348 FCGR1A Fc gamma receptor Ia gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:1320511 D RGD:9068941 20200611 RGD PMID:22402584|REF_RGD_ID:9685699 11673348 FCGR1A Fc gamma receptor Ia gene DOID:9006862 PERITONEAL GLIOMATOSIS ISO RGD:1320511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peritoneal Gliomatosis 11673348 FCGR1A Fc gamma receptor Ia gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:0080488 mucolipidosis ISO RGD:1319026 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mucolipidosis PMID:10441585|PMID:10973263|PMID:11013137|PMID:11030752|PMID:11317355|PMID:11551108|PMID:11845410|PMID:15523648|PMID:16287144|PMID:16645217|PMID:17384215|PMID:19815695|PMID:23555759|PMID:24033266|PMID:25741868|PMID:28492532 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1319026 D RGD:7240710 20190227 OMIM 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1319026 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:10441585|PMID:10973263|PMID:11013137|PMID:11030752|PMID:11317355|PMID:11551108|PMID:11845410|PMID:12125810|PMID:12182165|PMID:14749347|PMID:15178326|PMID:15523648|PMID:16199547|PMID:16257972|PMID:16287144|PMID:16645217|PMID:16978393|PMID:17239335|PMID:17306511|PMID:17384215|PMID:17576681|PMID:18326692|PMID:18794901|PMID:19815695|PMID:20159435|PMID:21763169|PMID:22268962|PMID:22281206|PMID:23555759|PMID:24033266|PMID:25119295|PMID:25465891|PMID:25741868|PMID:25933391|PMID:26467025|PMID:27670435|PMID:28112729|PMID:28492532|PMID:28604674|PMID:28936784|PMID:29019983|PMID:30120981|PMID:31578829|PMID:31618753|PMID:31899079|PMID:32214227|PMID:32860008|PMID:33454187|PMID:33963976|PMID:35425852|PMID:9536098 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:0110790 hereditary spastic paraplegia 39 ISO RGD:1319026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 PMID:25741868|PMID:26467025|PMID:28492532 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:1319026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A PMID:25741868 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1319026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:0111265 Boucher-Neuhauser syndrome ISO RGD:1319026 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome PMID:25741868|PMID:26467025|PMID:28492532 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:1059 intellectual disability ISO RGD:1319026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:13088 periventricular leukomalacia ISO RGD:1319026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Periventricular leukomalacia 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1319026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:25741868|PMID:26467025|PMID:28492532 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:3343 glycoproteinosis ISO RGD:1319026 D RGD:9068941 20200609 RGD PMID:10973263|REF_RGD_ID:1599926 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:630 genetic disease ISO RGD:1319026 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10973263|PMID:11030752|PMID:11317355|PMID:14749347|PMID:15178326|PMID:16978393|PMID:17239335|PMID:17576681|PMID:18326692|PMID:18794901|PMID:21763169|PMID:25119295|PMID:25741868|PMID:25933391|PMID:27670435|PMID:28492532|PMID:31618753|PMID:31899079|PMID:9536098 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:9006257 Growth Disorders ISO RGD:1319026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth Retardation 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1319026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:9008606 Corneal Opacity ISO RGD:1319026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal opacity 11673386 F2R coagulation factor II thrombin receptor gene DOID:10591 pre-eclampsia ISO RGD:735960 D RGD:9068941 20230427 RGD PMID:12161502|REF_RGD_ID:1581033 11673386 F2R coagulation factor II thrombin receptor gene DOID:2237 hepatitis ISO RGD:735960 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:21907177 11673386 F2R coagulation factor II thrombin receptor gene DOID:5082 liver cirrhosis ISO RGD:735960 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:21037076 11673386 F2R coagulation factor II thrombin receptor gene DOID:630 genetic disease ISO RGD:735960 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673386 F2R coagulation factor II thrombin receptor gene DOID:9000217 Stomach Neoplasms ISO RGD:735960 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11673386 F2R coagulation factor II thrombin receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735960 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11673386 F2R coagulation factor II thrombin receptor gene DOID:9002170 Experimental Neoplasms ISO RGD:735960 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:17374729 11673386 F2R coagulation factor II thrombin receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735960 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11673386 F2R coagulation factor II thrombin receptor gene DOID:9005372 Inflammation ISO RGD:735960 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:20008134 11673386 F2R coagulation factor II thrombin receptor gene DOID:9452 fatty liver disease ISO RGD:735960 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:20008134|PMID:21907177|PMID:22841818 11673392 NT5C 5', 3'-nucleotidase, cytosolic gene DOID:630 genetic disease ISO RGD:1353894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673392 NT5C 5', 3'-nucleotidase, cytosolic gene DOID:9008443 Colorectal Neoplasms ISO RGD:1353894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0050589 inflammatory bowel disease treatment ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:22018461|REF_RGD_ID:7495770 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0060180 colitis treatment ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:17543437|REF_RGD_ID:2298659 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0090039 torsion dystonia 6 ISO RGD:733968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0111959 immunodeficiency 15B ISO RGD:733968 D RGD:7240710 20180130 OMIM 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0111959 immunodeficiency 15B ISO RGD:733968 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:10195897|PMID:17576681|PMID:24033266|PMID:24369075|PMID:24679846|PMID:25139357|PMID:25216719|PMID:25741868|PMID:26122175|PMID:28492532|PMID:30335863|PMID:32117824|PMID:9536098 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0111960 immunodeficiency 15A ISO RGD:733968 D RGD:7240710 20190315 OMIM 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0111960 immunodeficiency 15A ISO RGD:733968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15a PMID:24033266|PMID:25741868|PMID:28492532|PMID:30337470 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:10283 prostate cancer ISO RGD:733968 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:prostate gland PMID:26435478|REF_RGD_ID:13504773 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:10487 Hirschsprung's disease ISO RGD:733968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:10603 glucose intolerance ISO RGD:733968 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31095431 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:10652 Alzheimer's disease treatment ISO RGD:621375 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus: PMID:24380241|REF_RGD_ID:10045941 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:10763 hypertension ISO RGD:733968 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:27659729|PMID:32147540 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:10763 hypertension treatment ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:19246475|REF_RGD_ID:7495780 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:1612 breast cancer susceptibility ISO RGD:733968 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:22562547|REF_RGD_ID:6484541 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:178 vascular disease ISO RGD:733968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29036520 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:219 colon cancer ISO RGD:621375 D RGD:9068941 20200609 RGD associated with Obesity;protein:increased expression:large intestine mucosa PMID:20143392|REF_RGD_ID:7495781 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:224 transient cerebral ischemia treatment ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:24261295|REF_RGD_ID:7495766 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:733968 D RGD:9068941 20200609 RGD PMID:27196761|REF_RGD_ID:13504772 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:2723 dermatitis ISO RGD:733968 D RGD:9068941 20200609 RGD PMID:20200541|REF_RGD_ID:7495759 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:2723 dermatitis ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:12075355|REF_RGD_ID:7495756 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:3498 pancreatic ductal adenocarcinoma susceptibility ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:22264792|REF_RGD_ID:13838741 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:16286924|REF_RGD_ID:10045955 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:3571 liver cancer ISO RGD:733968 D RGD:9068941 20220811 RGD human cells in mouse model PMID:27367027|REF_RGD_ID:153305911 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:4989 pancreatitis treatment ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:17525799|REF_RGD_ID:10045954 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:552 pneumonia ISO RGD:733968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31095431 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:552 pneumonia treatment ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:20080200|REF_RGD_ID:7495767 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:627 severe combined immunodeficiency ISO RGD:733968 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:630 genetic disease ISO RGD:733968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:767 muscular atrophy treatment ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:18827022|REF_RGD_ID:7495773 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:8893 psoriasis ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:16397523|REF_RGD_ID:7495754 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:24489934|REF_RGD_ID:10045942 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9002221 Hyperplasia ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:15939736|REF_RGD_ID:7495757 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9002457 Experimental Arthritis ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:19652024|REF_RGD_ID:7495778 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9002457 Experimental Arthritis ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:19652024|REF_RGD_ID:7495778 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9002457 Experimental Arthritis treatment ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:21087862|REF_RGD_ID:7495772 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9002532 Neonatal Hyperbilirubinemia ISO RGD:733968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28167773 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9004078 Pancreatic Intraepithelial Neoplasia disease_progression ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:22056382|REF_RGD_ID:13838742 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9004078 Pancreatic Intraepithelial Neoplasia severity ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:22406536|REF_RGD_ID:13838740 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9004118 Experimental Melanoma ISO RGD:733968 D RGD:9068941 20200609 RGD PMID:19276165|REF_RGD_ID:7495758 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9004283 Transplant Rejection ISO RGD:621375 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:19249479|REF_RGD_ID:7495769 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9004283 Transplant Rejection treatment ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:20500684|REF_RGD_ID:4892204 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9005372 Inflammation ISO RGD:733968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29036520 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621375 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver PMID:20362663|REF_RGD_ID:7495777 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:19546526|REF_RGD_ID:7495779 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9007692 Insulin Resistance ISO RGD:733968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29036520 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9007692 Insulin Resistance ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:11533494|REF_RGD_ID:10045961 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9007692 Insulin Resistance treatment ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:19073766|REF_RGD_ID:7495768 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:733968 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:10195897|PMID:17576681|PMID:24033266|PMID:24369075|PMID:24679846|PMID:25139357|PMID:25216719|PMID:25741868|PMID:26122175|PMID:28492532|PMID:30335863|PMID:32117824|PMID:9536098 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9352 type 2 diabetes mellitus ISO RGD:733968 D RGD:9068941 20200609 RGD PMID:15685173|REF_RGD_ID:10045952 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9970 obesity ISO RGD:733969 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:15685173|REF_RGD_ID:10045952 11673437 IBSP integrin binding sialoprotein gene DOID:630 genetic disease ISO RGD:735575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673437 IBSP integrin binding sialoprotein gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:735575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 11673437 IBSP integrin binding sialoprotein gene DOID:9000965 Neoplasm Metastasis ISO RGD:735575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22407340|PMID:24980816 11673437 IBSP integrin binding sialoprotein gene DOID:9006081 Osteolysis ISO RGD:735575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22407340 11673437 IBSP integrin binding sialoprotein gene DOID:9008939 Breast Neoplasms ISO RGD:735575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24980816 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:0050891 adrenal cortical adenoma ISO RGD:735332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aldosterone-producing adrenal cortex adenoma PMID:23416519 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:735332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:0111558 Charcot-Marie-Tooth disease type 2DD ISO RGD:735332 D RGD:7240710 20190315 OMIM 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:0111558 Charcot-Marie-Tooth disease type 2DD ISO RGD:735332 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Charcot-marie-tooth disease, axonal, type 2DD PMID:25741868|PMID:28492532|PMID:29499166|PMID:30388404|PMID:31705535|PMID:31707753 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:10003 sensorineural hearing loss ISO RGD:2167 D RGD:9068941 20200609 RGD protein:decreased expression:cochlea: PMID:23827367|REF_RGD_ID:7349365 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:10283 prostate cancer ISO RGD:735332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:1059 intellectual disability ISO RGD:735332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:10763 hypertension ISO RGD:2167 D RGD:9068941 20200609 RGD PMID:8082931|REF_RGD_ID:1579862 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:10763 hypertension ISO RGD:735332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23416519 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:3426 vestibular disease ISO RGD:735332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21269433 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:446 primary hyperaldosteronism ISO RGD:735332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23416519 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:5844 myocardial infarction ISO RGD:735332 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29702141 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:630 genetic disease ISO RGD:735332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:657 adenoma ISO RGD:735332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23416519|PMID:23913004 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9006615 HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2 ISO RGD:735332 D RGD:7240710 20190315 OMIM 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9006615 HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2 ISO RGD:735332 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypomagnesemia, seizures, and intellectual disability 2 PMID:25741868|PMID:28492532|PMID:30388404 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:735332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:735332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:735332 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29702141 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9008817 Transmissible Gastroenteritis, of Swine ISO RGD:735332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28438630 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9279 hyperhomocysteinemia ISO RGD:2167 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex PMID:23467881|REF_RGD_ID:11576285 11673474 LOC100993012 olfactory receptor 8B12 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1350337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11673474 LOC100993012 olfactory receptor 8B12 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1350337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11673474 LOC100993012 olfactory receptor 8B12 gene DOID:5419 schizophrenia ISO RGD:1350337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11673474 LOC100993012 olfactory receptor 8B12 gene DOID:630 genetic disease ISO RGD:1350337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673474 LOC100993012 olfactory receptor 8B12 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1350337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11673474 LOC100993012 olfactory receptor 8B12 gene DOID:9007661 Dwarfism ISO RGD:1350337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11673477 DNAJC9 DnaJ heat shock protein family (Hsp40) member C9 gene DOID:630 genetic disease ISO RGD:1312781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673492 SDAD1 SDA1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1353066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673492 SDAD1 SDA1 domain containing 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1353066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 11673492 SDAD1 SDA1 domain containing 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1353066 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11673523 NEIL3 nei like DNA glycosylase 3 gene DOID:630 genetic disease ISO RGD:1352319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673523 NEIL3 nei like DNA glycosylase 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1352319 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11673523 NEIL3 nei like DNA glycosylase 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352319 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 11673523 NEIL3 nei like DNA glycosylase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11673546 LOC103782852 uncharacterized LOC103782852 gene DOID:2234 focal epilepsy ISO RGD:1343114 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11673546 LOC103782852 uncharacterized LOC103782852 gene DOID:630 genetic disease ISO RGD:1343114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673546 LOC103782852 uncharacterized LOC103782852 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1343114 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11673569 LOC103784696 zinc finger protein 583 gene DOID:630 genetic disease ISO RGD:1350167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673612 IGFBP7 insulin like growth factor binding protein 7 gene DOID:4450 renal cell carcinoma ISO RGD:1306201 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:10854235|REF_RGD_ID:1626565 11673612 IGFBP7 insulin like growth factor binding protein 7 gene DOID:630 genetic disease ISO RGD:1314683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673612 IGFBP7 insulin like growth factor binding protein 7 gene DOID:9000217 Stomach Neoplasms ISO RGD:1314683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11673612 IGFBP7 insulin like growth factor binding protein 7 gene DOID:9000951 Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis ISO RGD:1314683 D RGD:7240710 20180130 OMIM 11673612 IGFBP7 insulin like growth factor binding protein 7 gene DOID:9000951 Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis ISO RGD:1314683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | ClinVar Annotator: match by term: Retinal arterial macroaneurysm with supravascular pulmonic stenosis PMID:12441727|PMID:21835307|PMID:25741868 11673612 IGFBP7 insulin like growth factor binding protein 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11673612 IGFBP7 insulin like growth factor binding protein 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314683 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12592389 11673612 IGFBP7 insulin like growth factor binding protein 7 gene DOID:9007692 Insulin Resistance ISO RGD:1314683 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16873698|REF_RGD_ID:1626516 11673612 IGFBP7 insulin like growth factor binding protein 7 gene DOID:9007730 Burns ISO RGD:1306201 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11742840|REF_RGD_ID:1626551 11673612 IGFBP7 insulin like growth factor binding protein 7 gene DOID:9008939 Breast Neoplasms ISO RGD:1314683 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12592389 11673621 SPATA12 spermatogenesis associated 12 gene DOID:630 genetic disease ISO RGD:1353232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673633 APH1B aph-1 homolog B, gamma-secretase subunit gene DOID:0110935 nemaline myopathy 6 ISO RGD:1344589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11673633 APH1B aph-1 homolog B, gamma-secretase subunit gene DOID:10652 Alzheimer's disease ISO RGD:1344589 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33589840 11673633 APH1B aph-1 homolog B, gamma-secretase subunit gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1344589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 11673633 APH1B aph-1 homolog B, gamma-secretase subunit gene DOID:2717 Bloom syndrome ISO RGD:1344589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11673633 APH1B aph-1 homolog B, gamma-secretase subunit gene DOID:3393 coronary artery disease ISO RGD:1344589 D RGD:9068941 20200609 RGD DNA:SNP:CDS:p.F217L (rs1047552) (human) PMID:18987747|REF_RGD_ID:13703124 11673633 APH1B aph-1 homolog B, gamma-secretase subunit gene DOID:630 genetic disease ISO RGD:1344589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673633 APH1B aph-1 homolog B, gamma-secretase subunit gene DOID:9003284 HIV Seropositivity susceptibility ISO RGD:1344589 D RGD:9068941 20200609 RGD DNA:SNP:CDS:p.F217L (rs1047552) (human) PMID:19774691|REF_RGD_ID:13703126 11673633 APH1B aph-1 homolog B, gamma-secretase subunit gene DOID:9256 colorectal cancer ISO RGD:1344589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11673643 MFSD6 major facilitator superfamily domain containing 6 gene DOID:0111944 immunodeficiency 31B ISO RGD:1603217 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 11673643 MFSD6 major facilitator superfamily domain containing 6 gene DOID:630 genetic disease ISO RGD:1603217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673643 MFSD6 major facilitator superfamily domain containing 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11673660 UBN2 ubinuclein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:2302451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28263302 11673660 UBN2 ubinuclein 2 gene DOID:0080690 RASopathy ISO RGD:2302451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 11673660 UBN2 ubinuclein 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2302451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11673660 UBN2 ubinuclein 2 gene DOID:630 genetic disease ISO RGD:2302451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673691 COPS7A COP9 signalosome subunit 7A gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1320761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11673691 COPS7A COP9 signalosome subunit 7A gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1320761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11673691 COPS7A COP9 signalosome subunit 7A gene DOID:0111621 Temtamy syndrome ISO RGD:1320761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11673691 COPS7A COP9 signalosome subunit 7A gene DOID:630 genetic disease ISO RGD:1320761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673691 COPS7A COP9 signalosome subunit 7A gene DOID:9000217 Stomach Neoplasms ISO RGD:1320761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11673691 COPS7A COP9 signalosome subunit 7A gene DOID:9000918 Disease Progression ISO RGD:1320761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11673691 COPS7A COP9 signalosome subunit 7A gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1320761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11673722 MYORG myogenesis regulating glycosidase (putative) gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1320364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11673722 MYORG myogenesis regulating glycosidase (putative) gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1320364 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11673722 MYORG myogenesis regulating glycosidase (putative) gene DOID:0080942 anauxetic dysplasia ISO RGD:1320364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11673722 MYORG myogenesis regulating glycosidase (putative) gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1320364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11673722 MYORG myogenesis regulating glycosidase (putative) gene DOID:630 genetic disease ISO RGD:1320364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30649222|PMID:31009047|PMID:31951047|PMID:32211515 11673722 MYORG myogenesis regulating glycosidase (putative) gene DOID:9007487 Idiopathic Basal Ganglia Calcification 7 ISO RGD:1320364 D RGD:7240710 20190315 OMIM 11673722 MYORG myogenesis regulating glycosidase (putative) gene DOID:9007487 Idiopathic Basal Ganglia Calcification 7 ISO RGD:1320364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 7, autosomal recessive PMID:25741868|PMID:28492532|PMID:29910000|PMID:30460687|PMID:30589467|PMID:30649222|PMID:30656188|PMID:31009047|PMID:31440850|PMID:31951047|PMID:32211515 11673722 MYORG myogenesis regulating glycosidase (putative) gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11673722 MYORG myogenesis regulating glycosidase (putative) gene DOID:9870 galactosemia ISO RGD:1320364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11673730 PRRC2A proline rich coiled-coil 2A gene DOID:0050553 JMP syndrome ISO RGD:1350670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11673730 PRRC2A proline rich coiled-coil 2A gene DOID:11372 megacolon ISO RGD:1350670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11673730 PRRC2A proline rich coiled-coil 2A gene DOID:630 genetic disease ISO RGD:1350670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673730 PRRC2A proline rich coiled-coil 2A gene DOID:9004283 Transplant Rejection susceptibility ISO RGD:1350670 D RGD:9068941 20200609 RGD DNA:haplotype: :rs11538264(human) PMID:25111513|REF_RGD_ID:14390152 11673730 PRRC2A proline rich coiled-coil 2A gene DOID:9744 type 1 diabetes mellitus ISO RGD:1350670 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15842729|REF_RGD_ID:2306963 11673730 PRRC2A proline rich coiled-coil 2A gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:1350670 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:10987645|REF_RGD_ID:2306964 11673769 MMADHC metabolism of cobalamin associated D gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:1346733 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:18385497|PMID:22156578|PMID:25155779|PMID:25741868|PMID:28492532|PMID:32252256 11673769 MMADHC metabolism of cobalamin associated D gene DOID:0050716 methylmalonic aciduria and homocystinuria type cblD ISO RGD:1346733 D RGD:7240710 20180130 OMIM 11673769 MMADHC metabolism of cobalamin associated D gene DOID:0050716 methylmalonic aciduria and homocystinuria type cblD ISO RGD:1346733 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Homocystinuria, cblD type, variant 1 | ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria cblD | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria, cblD type, variant 2 PMID:15292234|PMID:16199547|PMID:17576681|PMID:18385497|PMID:19058814|PMID:22156578|PMID:24033266|PMID:25155779|PMID:25741868|PMID:27252276|PMID:28492532|PMID:28939051|PMID:29620684|PMID:32252256|PMID:5524089|PMID:9536098 11673769 MMADHC metabolism of cobalamin associated D gene DOID:630 genetic disease ISO RGD:1346733 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11673769 MMADHC metabolism of cobalamin associated D gene DOID:655 inherited metabolic disorder ISO RGD:1346733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:24033266|PMID:25741868|PMID:28492532 11673781 TLK1 tousled like kinase 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1321237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11673781 TLK1 tousled like kinase 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1321237 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11673781 TLK1 tousled like kinase 1 gene DOID:630 genetic disease ISO RGD:1321237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673781 TLK1 tousled like kinase 1 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1321237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17481512 11673809 PLA2G2C phospholipase A2 group IIC gene DOID:0060369 Parkinson's disease 6 ISO RGD:1349993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11673809 PLA2G2C phospholipase A2 group IIC gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1349993 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11673809 PLA2G2C phospholipase A2 group IIC gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1349993 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11673809 PLA2G2C phospholipase A2 group IIC gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1349993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11673809 PLA2G2C phospholipase A2 group IIC gene DOID:630 genetic disease ISO RGD:1349993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673809 PLA2G2C phospholipase A2 group IIC gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1349993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11673815 NKX2-8 NK2 homeobox 8 gene DOID:0080016 spina bifida ISO RGD:12245875 D RGD:9068941 20210604 OMIA Spinal dysraphism PMID:1641930|PMID:22843830|PMID:23874236|PMID:4434313|PMID:4732250|PMID:5023160|PMID:5318050|PMID:5339905|PMID:5893238|PMID:6756221|PMID:6756222|PMID:8578905 11673815 NKX2-8 NK2 homeobox 8 gene DOID:12859 choreatic disease ISO RGD:1321643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign hereditary chorea PMID:11971878 11673815 NKX2-8 NK2 homeobox 8 gene DOID:630 genetic disease ISO RGD:1321643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673815 NKX2-8 NK2 homeobox 8 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321643 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11673821 AARSD1 alanyl-tRNA synthetase domain containing 1 gene DOID:630 genetic disease ISO RGD:1606776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673840 ERAP2 endoplasmic reticulum aminopeptidase 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605959 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11673840 ERAP2 endoplasmic reticulum aminopeptidase 2 gene DOID:0111079 birdshot chorioretinopathy ISO RGD:1605959 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:36013011 11673840 ERAP2 endoplasmic reticulum aminopeptidase 2 gene DOID:3482 plague ISO RGD:1605959 D RGD:9068941 20221103 CTD CTD Direct Evidence: therapeutic PMID:36261521 11673840 ERAP2 endoplasmic reticulum aminopeptidase 2 gene DOID:630 genetic disease ISO RGD:1605959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673840 ERAP2 endoplasmic reticulum aminopeptidase 2 gene DOID:7147 ankylosing spondylitis ISO RGD:1605959 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:33550689 11673840 ERAP2 endoplasmic reticulum aminopeptidase 2 gene DOID:8778 Crohn's disease ISO RGD:1605959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 11673840 ERAP2 endoplasmic reticulum aminopeptidase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11673840 ERAP2 endoplasmic reticulum aminopeptidase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605959 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:733483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0050589 inflammatory bowel disease ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A>C (human) PMID:17111197|REF_RGD_ID:10449410 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0050745 diffuse large B-cell lymphoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human) PMID:17712558|REF_RGD_ID:6893517 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0050830 peripheral artery disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:transition:cds:g.677C>T (human) PMID:16274479|REF_RGD_ID:6893659 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0050864 non-arteritic anterior ischemic optic neuropathy susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :677C>T(human) PMID:20162297|REF_RGD_ID:8693343 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:677C>T (human) PMID:16365753|REF_RGD_ID:10449416 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0050873 follicular lymphoma ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16410450 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0060041 autism spectrum disorder ISO RGD:733483 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0060058 lymphoma ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16799656 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17488658 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0060326 myelomeningocele ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16602021 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:733483 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0060770 dextro-looped transposition of the great arteries susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: : rs1801133(human) PMID:22868813|REF_RGD_ID:11565105 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0060903 thrombosis no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T (human) PMID:10780318|REF_RGD_ID:10449414 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0070004 myeloid neoplasm ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T, 1298A>C (human) PMID:23107469|REF_RGD_ID:10449419 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0080016 spina bifida ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27713094 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0080016 spina bifida no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :677C>T(human) PMID:15022402|REF_RGD_ID:11565178 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0080016 spina bifida severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :677C>T(human) PMID:12797455|REF_RGD_ID:11565104 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0080016 spina bifida susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:10791559|REF_RGD_ID:6893455 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0080074 neural tube defect ISO RGD:733483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:25736335|PMID:25741868 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0080074 neural tube defect susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :677C>T(human) PMID:8826441|REF_RGD_ID:11565102 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0080177 hepatic veno-occlusive disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) PMID:24583625|REF_RGD_ID:14696752 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0080178 mucositis ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17488658 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A > C (human) PMID:24488901|REF_RGD_ID:14696706 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) PMID:17563923|REF_RGD_ID:14696748 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:733483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 PMID:28492532 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0081267 graft-versus-host disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16518429 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0081267 graft-versus-host disease treatment ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:19005482|REF_RGD_ID:6893635 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0111907 thrombophilia due to thrombin defect ISO RGD:733483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: THROMBOPHILIA DUE TO FACTOR 2 DEFECT | ClinVar Annotator: match by term: Thrombophilia due to thrombin defect PMID:10196703|PMID:10323741|PMID:10440833|PMID:10679944|PMID:10732818|PMID:10869114|PMID:10923034|PMID:10930360|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11710708|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12673793|PMID:12733064|PMID:12796225|PMID:12915598|PMID:15048559|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:16172608|PMID:16199547|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18523009|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:19810817|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21534867|PMID:21644011|PMID:21778025|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:24908438|PMID:25007187|PMID:25079578|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25736335|PMID:25741868|PMID:25778468|PMID:26025547|PMID:26872964|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27743313|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28696419|PMID:29246599|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31870219|PMID:32612964|PMID:32695297|PMID:33089527|PMID:34214447|PMID:7564788|PMID:7647779|PMID:7726158|PMID:7741859|PMID:7920641|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0111907 thrombophilia due to thrombin defect susceptibility ISO RGD:733483 D RGD:7240710 20230505 OMIM 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:10024 migraine with aura susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP:cds:677C>T(human) PMID:21635773|REF_RGD_ID:7387244 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:10159 osteonecrosis no_association ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:SNP: :677C>T (human) PMID:9840906|REF_RGD_ID:10449417 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:10283 prostate cancer ISO RGD:733483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:10534 stomach cancer no_association ISO RGD:733483 D RGD:9068941 20200814 RGD DNA:missense mutation:cds:g.677C>T (human) PMID:23183616|PMID:24615072|REF_RGD_ID:38501052|REF_RGD_ID:38501056 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:10548 cardia cancer no_association ISO RGD:733483 D RGD:9068941 20200813 RGD associated with stomach cancer;DNA:missense mutation:cds:g.677C>T (human) PMID:24615072|REF_RGD_ID:38501052 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1059 intellectual disability ISO RGD:733483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:12733064|PMID:25736335|PMID:25741868|PMID:28492532|PMID:7726158 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:10652 Alzheimer's disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17192785 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1067 open-angle glaucoma no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: : 677C>T, 1298A>C (human) PMID:17558844|REF_RGD_ID:7387254 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1067 open-angle glaucoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:15808177|REF_RGD_ID:7387252 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1074 kidney failure ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:20433440|REF_RGD_ID:6893515 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP:cds:rs1801133(human) PMID:22065928|REF_RGD_ID:7387224 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:10923 sickle cell anemia no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A>C (human) PMID:22924497|REF_RGD_ID:10449403 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:10923 sickle cell anemia no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T (human) PMID:20113291|REF_RGD_ID:10449420 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:10923 sickle cell anemia severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T (human) PMID:22924497|REF_RGD_ID:10449403 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1094 attention deficit hyperactivity disorder no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A>C,677C>T(human) PMID:21819229|REF_RGD_ID:11565109 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1094 attention deficit hyperactivity disorder susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :1298A>C(human) PMID:21897766|REF_RGD_ID:11565107 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:11054 urinary bladder cancer ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22747749 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:11054 urinary bladder cancer no_association ISO RGD:733483 D RGD:9068941 20200609 RGD protein:missense mutation:cds:p.A222V (human) PMID:17311259|REF_RGD_ID:6893597 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human) PMID:20146887|REF_RGD_ID:6893516 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:22126575|REF_RGD_ID:6893457 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transversion:cds:g.1298A>C (human) PMID:19837268|REF_RGD_ID:6893521 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:11166 papillomavirus infectious disease no_association ISO RGD:733483 D RGD:9068941 20200814 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) PMID:23444906|REF_RGD_ID:38501058 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:11512 Budd-Chiari syndrome ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition: :677C>T (human) PMID:12221667|REF_RGD_ID:10449395 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:11512 Budd-Chiari syndrome susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) PMID:26238013|REF_RGD_ID:11537993 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:11664 nephrosclerosis ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) PMID:21613384|REF_RGD_ID:6893469 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:11695 portal vein thrombosis susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:25987440|PMID:27221722|REF_RGD_ID:14696705|REF_RGD_ID:14696749 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:11713 diabetic angiopathy ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16681562 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:11836 clubfoot ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16936070 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1205 allergic disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16766537 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:12134 factor VIII deficiency no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A>C (human) PMID:22411997|REF_RGD_ID:10449409 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:12134 factor VIII deficiency severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T (human) PMID:22411997|REF_RGD_ID:10449409 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1227 neutropenia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19391036 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:12336 male infertility ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16861746 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:12336 male infertility susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :677C>T(human) PMID:16247718|REF_RGD_ID:11565106 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:12361 Graves' disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP:cds:677C>T(human) PMID:20941748|REF_RGD_ID:7387246 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:12849 autistic disorder ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19267885 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1287 cardiovascular system disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16958597|PMID:25050994 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1287 cardiovascular system disease ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) PMID:12187094|REF_RGD_ID:1580585 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:13001 carotid stenosis ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP:CDS:rs1801133, c.677C>T, p.A222V, in men only PMID:15748240|REF_RGD_ID:5509914 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:13550 angle-closure glaucoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T,1298A>C(human) PMID:19936026|REF_RGD_ID:7387250 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:14018 alcoholic liver cirrhosis susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:25987440|REF_RGD_ID:14696749 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:14250 Down syndrome ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16353284|PMID:16489479|PMID:16845273|PMID:17431899 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:14250 Down syndrome susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs:cds:c.677C>T,c.1298A>C (human) PMID:16489479|REF_RGD_ID:11565177 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:14330 Parkinson's disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30726997 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1459 hypothyroidism ISO RGD:1309952 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:7990714|REF_RGD_ID:6893690 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1588 thrombocytopenia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19391036 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1588 thrombocytopenia ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :1298A>C (human) PMID:23498762|REF_RGD_ID:10449418 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1588 thrombocytopenia no_association ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :677C>T, 1793G>A (human) PMID:23498762|REF_RGD_ID:10449418 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1596 depressive disorder ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17074966 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1682 congenital heart disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16524890 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1727 retinal vein occlusion no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A>C(human) PMID:23289804|REF_RGD_ID:10449405 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1727 retinal vein occlusion no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:677C>T (human) PMID:24250697|REF_RGD_ID:10449421 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1727 retinal vein occlusion susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:10485556|REF_RGD_ID:7387256 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1749 squamous cell carcinoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:17627246|REF_RGD_ID:6893580 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:178 vascular disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19646848 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1793 pancreatic cancer susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :677C>T (human) PMID:16737574|REF_RGD_ID:2317120 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1936 atherosclerosis severity ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic; DNA:transversion:cds:g.1298A>C (human) PMID:17899317|REF_RGD_ID:6893579 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1984 rectal benign neoplasm severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:21865946|REF_RGD_ID:6893664 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:2043 hepatitis B no_association ISO RGD:733483 D RGD:9068941 20200820 RGD DNA:missense mutations:cds:g.1298A>C, g.2756A>G PMID:18222012|REF_RGD_ID:38508898 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:2043 hepatitis B susceptibility ISO RGD:733483 D RGD:9068941 20200820 RGD DNA:transition:cds:g.677C>T (human) PMID:18222012|REF_RGD_ID:38508898 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:2154 nephroblastoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:19346876|REF_RGD_ID:6893546 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:2316 brain ischemia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15534175 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:2355 anemia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19391036|PMID:25007187 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:2355 anemia susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma; DNA:SNP:: rs1801133(human) PMID:25007187|REF_RGD_ID:11080979 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:2388 renal artery disease ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:16760910|REF_RGD_ID:2313876 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:2452 thrombophilia ISO RGD:733483 D RGD:9068941 20200730 CTD CTD Direct Evidence: marker/mechanism PMID:17493413 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:2452 thrombophilia ISO RGD:733483 D RGD:9068941 20200730 RGD associated with Liver Cirrhosis, Biliary;DNA:SNP: :677C>T (human) PMID:16570355|REF_RGD_ID:10449396 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:2671 transitional cell carcinoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transversion:cds:g.1298A>C (human) PMID:21046286|REF_RGD_ID:6893477 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:2841 asthma ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:20456312|REF_RGD_ID:4891145 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:2921 glomerulonephritis ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:22111818|REF_RGD_ID:6893468 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:2987 familial Mediterranean fever susceptibility ISO RGD:733483 D RGD:9068941 20200813 RGD DNA:missense mutations:cds:g.677C>T (rs1801133), g.1298A>C (rs1801131) (human) PMID:28543752|REF_RGD_ID:38501050 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:3021 acute kidney failure ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17387702 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:319 spinal cord disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16361298 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:326 ischemia susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Retinal Vein Occlusion;DNA:SNP:cds:677C>T(human) PMID:17719079|REF_RGD_ID:7387251 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:3312 bipolar disorder ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17074966 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:332 amyotrophic lateral sclerosis no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.677C>T(human) PMID:21868135|REF_RGD_ID:11565173 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:332 amyotrophic lateral sclerosis susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.677C>T(human) PMID:21128869|REF_RGD_ID:11565111 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:3347 osteosarcoma treatment ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:19159907|REF_RGD_ID:6893634 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:3393 coronary artery disease no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:15648053|REF_RGD_ID:1580579 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:3393 coronary artery disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:12387655|REF_RGD_ID:6893453 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:3526 cerebral infarction ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:10929044|REF_RGD_ID:1580590 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:3572 intracranial sinus thrombosis ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18941937 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:37 skin disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17548696 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:409 liver disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16877991 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:4247 coronary restenosis ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16489563 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:4362 cervical cancer susceptibility ISO RGD:733483 D RGD:9068941 20200813 RGD DNA:missense mutation:cds:g.1298A>C (human) PMID:27771518|REF_RGD_ID:38501051 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.A222V (rs1801133) (human) PMID:18098291|REF_RGD_ID:6893654 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:4467 clear cell renal cell carcinoma severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) PMID:20039875|REF_RGD_ID:6893632 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:4467 clear cell renal cell carcinoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) PMID:21489764|REF_RGD_ID:6893474 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:4947 cholangiocarcinoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:17201138|REF_RGD_ID:2317119 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:5082 liver cirrhosis susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:25987440|REF_RGD_ID:14696749 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:5409 lung small cell carcinoma severity ISO RGD:733483 D RGD:9068941 20200609 RGD protein:missense mutation:cds:p.A222V (human) PMID:17533396|REF_RGD_ID:4891158 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:5419 schizophrenia ISO RGD:733483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SCHIZOPHRENIA WITH OR WITHOUT AN AFFECTIVE DISORDER | ClinVar Annotator: match by term: Schizophrenia | ClinVar Annotator: match by term: Schizophrenia, susceptibility to PMID:10677336|PMID:10679944|PMID:10923034|PMID:10958762|PMID:11590551|PMID:11742092|PMID:11752418|PMID:11938441|PMID:12560871|PMID:12673793|PMID:12733064|PMID:15048559|PMID:15103709|PMID:15543147|PMID:15951337|PMID:16199547|PMID:16244782|PMID:18523009|PMID:18583979|PMID:19810817|PMID:21778025|PMID:25079578|PMID:25227144|PMID:25736335|PMID:25741868|PMID:26025547|PMID:26872964|PMID:27743313|PMID:28492532|PMID:28514598|PMID:29246599|PMID:33089527|PMID:34214447|PMID:7726158|PMID:7920641|PMID:9545395 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:5419 schizophrenia susceptibility ISO RGD:733483 D RGD:7240710 20230505 OMIM 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:557 kidney disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18551038 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:5614 eye disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;DNA:SNP:cds:677C>T(human) PMID:16299146|REF_RGD_ID:7387241 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:5679 retinal disease ISO RGD:1551392 D RGD:9068941 20200609 RGD PMID:20532821|REF_RGD_ID:7387239 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:5844 myocardial infarction ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T (human) PMID:10090925|REF_RGD_ID:10449412 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:5844 myocardial infarction susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic; DNA:transition:cds:g.677C>T rs1801133 (human) PMID:19272686|REF_RGD_ID:6893548 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:61 mitral valve disease susceptibility ISO RGD:733483 D RGD:9068941 20210305 RGD associated with rheumatic heart disease;DNA:SNP:cds:677C>T (human) PMID:26813460|REF_RGD_ID:11537145 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:615 leukopenia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19648163 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:630 genetic disease ISO RGD:733483 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25736335|PMID:25741868|PMID:28492532 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:6364 migraine susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP:cds:677C>T(human) PMID:21635773|REF_RGD_ID:7387244 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:6419 tetralogy of Fallot susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: : rs1801133(human) PMID:22868813|REF_RGD_ID:11565105 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:23996892|REF_RGD_ID:14696704 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:684 hepatocellular carcinoma onset ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A>C(human) PMID:19035314|REF_RGD_ID:14696707 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :677C>T, 1298A>C(human) PMID:17503006|REF_RGD_ID:14696703 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T, 1298A>C(human) PMID:17659576|REF_RGD_ID:14696708 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:7147 ankylosing spondylitis susceptibility ISO RGD:733483 D RGD:9068941 20210305 RGD DNA:SNP:cds:677C>T (human) PMID:25060515|REF_RGD_ID:42722610 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:7148 rheumatoid arthritis ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22104130 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:7148 rheumatoid arthritis ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:23685257|REF_RGD_ID:7387222 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:74 hematopoietic system disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19159907 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:7693 abdominal aortic aneurysm ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:17398378|REF_RGD_ID:6893584 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:77 gastrointestinal system disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19648163 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:733483 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:25741868 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:783 end stage renal disease ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:25664255|REF_RGD_ID:14696732 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:783 end stage renal disease no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:19520069|REF_RGD_ID:6893523 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:783 end stage renal disease severity ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human) PMID:14737040|REF_RGD_ID:6893524 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:783 end stage renal disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) PMID:19520684|REF_RGD_ID:6893522 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:783 end stage renal disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transitions, transversion, haplotype:cds:g.677C>T, g.1298A>C, g.1793G>A (human) PMID:17899317|REF_RGD_ID:6893579 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:784 chronic kidney disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:g.677C>T (human) PMID:23595572|REF_RGD_ID:7244284 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:7997 thyrotoxicosis ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18941937 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:7998 hyperthyroidism ISO RGD:1309952 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:7990714|REF_RGD_ID:6893690 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:8029 sporadic breast cancer no_association ISO RGD:733483 D RGD:9068941 20200814 RGD DNA:missense mutations:cds:g.677C>T, g.1298A>T (human) PMID:28330681|REF_RGD_ID:38501055 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:83 cataract susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: : 677C>T, 1298A>C (human) PMID:16310481|REF_RGD_ID:7387253 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:8552 chronic myeloid leukemia ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T, 1298A>C(human) PMID:17156840|REF_RGD_ID:10449408 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:863 nervous system disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:8725 vascular dementia ISO RGD:733483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:8736 smallpox treatment ISO RGD:733483 D RGD:9068941 20210305 RGD DNA:SNP:exon:rs1801133(human) PMID:18454680|REF_RGD_ID:42722608 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:8778 Crohn's disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28002332 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human) PMID:9040583|REF_RGD_ID:6893525 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:733483 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:17303386 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9000027 Microsatellite Instability ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17350979 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9000217 Stomach Neoplasms ISO RGD:733483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Stomach Neoplasms PMID:10196703|PMID:10323741|PMID:10440833|PMID:10732818|PMID:10869114|PMID:10930360|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11710708|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:16172608|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:24908438|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31870219|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9000326 Thrombotic Microangiopathies susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:19448163|REF_RGD_ID:6893633 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9000528 Coronary Disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16792904 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9000965 Neoplasm Metastasis ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17704422 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9001542 Albuminuria susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) PMID:22554825|REF_RGD_ID:6893631 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency ISO RGD:733483 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency PMID:10196703|PMID:10323741|PMID:10440833|PMID:10551815|PMID:10677336|PMID:10679944|PMID:10732818|PMID:10767000|PMID:10869114|PMID:10923034|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12673793|PMID:12733064|PMID:12796225|PMID:12840091|PMID:12915598|PMID:15048559|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16199547|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17409006|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17576681|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18523009|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:19810817|PMID:20154341|PMID:20356773|PMID:20472929|PMID:20490923|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21480888|PMID:21534867|PMID:21644011|PMID:21778025|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22887477|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24033266|PMID:24241962|PMID:24797679|PMID:24908438|PMID:24997712|PMID:25007187|PMID:25079578|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25736335|PMID:25741868|PMID:25778468|PMID:25856670|PMID:26025547|PMID:26872964|PMID:26898294|PMID:27104192|PMID:27118298|PMID:27217051|PMID:27399166|PMID:27743313|PMID:27768236|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29246599|PMID:29391032|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31068897|PMID:31870219|PMID:32230794|PMID:32451826|PMID:32612964|PMID:32695297|PMID:33089527|PMID:3347350|PMID:34015165|PMID:3580562|PMID:6381059|PMID:7564788|PMID:7647779|PMID:7726158|PMID:7741859|PMID:7920641|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8940272|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9536098|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9781030|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency ISO RGD:733483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency PMID:10196703|PMID:10323741|PMID:10440833|PMID:10551815|PMID:10677336|PMID:10679944|PMID:10732818|PMID:10767000|PMID:10869114|PMID:10923034|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12673793|PMID:12733064|PMID:12796225|PMID:12840091|PMID:12915598|PMID:15048559|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16199547|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17409006|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17576681|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18523009|PMID:18583979|PMID:18704422|PMID:18854913|PMID:19031955|PMID:19648163|PMID:19810817|PMID:20154341|PMID:20236116|PMID:20356773|PMID:20472929|PMID:20490923|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21131308|PMID:21387541|PMID:21480888|PMID:21534867|PMID:21644011|PMID:21778025|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22887477|PMID:22947400|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23526309|PMID:23648444|PMID:24033266|PMID:24241962|PMID:24726568|PMID:24797679|PMID:24908438|PMID:24997712|PMID:25007187|PMID:25024447|PMID:25079578|PMID:25110820|PMID:25162892|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25736335|PMID:25741868|PMID:25778468|PMID:25856670|PMID:26025547|PMID:26872964|PMID:26898294|PMID:27104192|PMID:27118298|PMID:27217051|PMID:27399166|PMID:27527345|PMID:27743313|PMID:27768236|PMID:27781293|PMID:27992285|PMID:28241805|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29246599|PMID:29391032|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31068897|PMID:31462756|PMID:31870219|PMID:32161077|PMID:32230794|PMID:32451826|PMID:32612964|PMID:32695297|PMID:32939339|PMID:33089527|PMID:3347350|PMID:34015165|PMID:34214447|PMID:3580562|PMID:6381059|PMID:7564788|PMID:7647779|PMID:7726158|PMID:7741859|PMID:7920641|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8940272|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9536098|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9781030|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency susceptibility ISO RGD:733483 D RGD:7240710 20230505 OMIM 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9001989 Folate-Sensitive Neural Tube Defects ISO RGD:733483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive PMID:10196703|PMID:10323741|PMID:10440833|PMID:10677336|PMID:10679944|PMID:10732818|PMID:10869114|PMID:10923034|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12673793|PMID:12733064|PMID:12796225|PMID:12915598|PMID:15048559|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16199547|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18523009|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:19810817|PMID:20154341|PMID:20356773|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21534867|PMID:21644011|PMID:21778025|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:24908438|PMID:25007187|PMID:25079578|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25736335|PMID:25741868|PMID:25778468|PMID:26025547|PMID:26872964|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27743313|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29246599|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31870219|PMID:32612964|PMID:32695297|PMID:33089527|PMID:34214447|PMID:7564788|PMID:7647779|PMID:7726158|PMID:7741859|PMID:7920641|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9001989 Folate-Sensitive Neural Tube Defects susceptibility ISO RGD:733483 D RGD:7240710 20230505 OMIM 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human) PMID:18280442|REF_RGD_ID:6893576 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human) PMID:14737040|REF_RGD_ID:6893524 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16706930 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9002269 Mthfr Deficiency, Thermolabile Type ISO RGD:733483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: MTHFR deficiency, thermolabile type PMID:10196703|PMID:10323741|PMID:10440833|PMID:10677336|PMID:10732818|PMID:10869114|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:24908438|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31870219|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9002304 Prostatic Neoplasms ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17967524 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9002557 Inherited Blood Coagulation Disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17493413 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9002704 Leukoencephalopathies ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15753437 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9002775 Cognitive Dysfunction ISO RGD:733483 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mental deterioration PMID:25741868 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9002928 Colonic Neoplasms ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16284371 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17303386 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9003505 Venous Thromboembolism ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T (human) PMID:25207100|REF_RGD_ID:10449399 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9003505 Venous Thromboembolism no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T, 1298A>C (human) PMID:25207100|REF_RGD_ID:10449399 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9003758 Banti's Syndrome susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) PMID:18685811|REF_RGD_ID:10755472 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9003817 Sudden Hearing Loss ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16275406 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9003817 Sudden Hearing Loss ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:20798492|REF_RGD_ID:7387236 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9003817 Sudden Hearing Loss no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP:cds:677C>T(human) PMID:16572609|REF_RGD_ID:7387240 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9003817 Sudden Hearing Loss susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs:cds:677C>T,1298A>C(human) PMID:15775757|REF_RGD_ID:7387243 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9003871 Venous Thrombosis ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19123085 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9003871 Venous Thrombosis ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:10929044|REF_RGD_ID:1580590 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9003871 Venous Thrombosis no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition: :677C>T (human) PMID:12442281|REF_RGD_ID:10449394 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9003871 Venous Thrombosis no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:10792297|REF_RGD_ID:6893655 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic; DNA:transition, transversion:cds:g.677C>T rs1801133, g.1298A>C rs1801131 (human) PMID:22707612|REF_RGD_ID:6893602 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9004538 Hearing Loss susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP:cds:677C>T(human) PMID:21385350|REF_RGD_ID:7387225 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9004563 Maxillofacial Abnormalities ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16832597 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9004616 Left Ventricular Hypertrophy susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T, 1298A>C(human) PMID:25664255|REF_RGD_ID:14696732 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9005172 Lung Neoplasms ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17389614 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9005236 Drug Eruptions ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14723717 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1309952 D RGD:9068941 20200609 RGD protein:decreased activity:kidney (rat) PMID:9836532|REF_RGD_ID:6893689 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9005695 Malnutrition ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16709328 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9005749 Necrosis ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14723717 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9006262 Cytomegalovirus Infections ISO RGD:733483 D RGD:9068941 20210305 RGD PMID:19609317|REF_RGD_ID:42722609 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9006262 Cytomegalovirus Infections ameliorates ISO RGD:1551392 D RGD:9068941 20210305 RGD PMID:19609317|REF_RGD_ID:42722609 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9006332 Vascular Calcification severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:21394321|REF_RGD_ID:6893475 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T (human) PMID:10477457|REF_RGD_ID:10449401 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9006532 Hematologic Neoplasms no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T (human) PMID:21984221|REF_RGD_ID:10449413 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9006532 Hematologic Neoplasms treatment ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A>C (human) PMID:21984221|REF_RGD_ID:10449413 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15753437|PMID:16166815|PMID:17387702|PMID:17502830|PMID:18551038|PMID:19159907|PMID:19391036|PMID:19821069|PMID:21064136|PMID:25007187|PMID:26077125 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9007096 Stroke ISO RGD:733483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Stroke PMID:10196703|PMID:10323741|PMID:10440833|PMID:10677336|PMID:10732818|PMID:10869114|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:24908438|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31870219|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9007096 Stroke no_association ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:missense mutation:cds:677C>T (human) PMID:9840906|REF_RGD_ID:10449417 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18551038|PMID:19648163 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:733483 D RGD:9068941 20200609 RGD associated with precursor lymphoblastic lymphoma/leukemia; DNA:SNP: :677C>T(human) PMID:30545275|REF_RGD_ID:14696733 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9007456 Female Infertility ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16679164 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9007479 Habitual Abortions ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T, 1298A>C (human) PMID:22047507|PMID:22882325|REF_RGD_ID:10449404|REF_RGD_ID:10449415 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9007479 Habitual Abortions no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A>C (human) PMID:19906129|REF_RGD_ID:10449411 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:733483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9007617 Conotruncal Cardiac Defects no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs:cds:c.677C>T,c.1298A>C (human) PMID:12705333|REF_RGD_ID:11565174 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9007715 Endometrial Neoplasms ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17301261 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9007908 Aortic Coarctation ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:19764075|REF_RGD_ID:4891157 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9007964 Arsenic Poisoning ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24384392 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9008086 Developmental Disabilities ISO RGD:733483 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9008114 Helicobacter Infections susceptibility ISO RGD:733483 D RGD:9068941 20200814 RGD associated with stomach cancer;DNA:missense mutation:cds:g.677C>T (human) PMID:20957490|PMID:23183616|REF_RGD_ID:38501056|REF_RGD_ID:38501057 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9008443 Colorectal Neoplasms ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15608557|PMID:16512993|PMID:16985020|PMID:17047490|PMID:17087956|PMID:17245555|PMID:17350979|PMID:18676755|PMID:26858257 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9008887 Microvascular Angina ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17491230 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9008887 Microvascular Angina ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:17491230|REF_RGD_ID:4891159 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9008939 Breast Neoplasms ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16777985|PMID:17595805|PMID:28114181 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9119 acute myeloid leukemia ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T, 1298A>C(human) PMID:17156840|REF_RGD_ID:10449408 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:916 liver benign neoplasm onset ISO RGD:1309952 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:22213190|REF_RGD_ID:6893663 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:10196703|PMID:10323741|PMID:10440833|PMID:10677336|PMID:10732818|PMID:10869114|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:24908438|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31870219|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Gastrointestinal stroma tumor PMID:10196703|PMID:10323741|PMID:10440833|PMID:10677336|PMID:10732818|PMID:10869114|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:24908438|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31870219|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9279 hyperhomocysteinemia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10459572|PMID:15226090|PMID:16317120|PMID:16397167|PMID:16411416|PMID:16575899|PMID:17387702|PMID:18234410|PMID:18551038|PMID:19204075|PMID:19646848 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9279 hyperhomocysteinemia ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:missense mutations, nonsense mutations:CDS:multiple (human) PMID:10679944|REF_RGD_ID:1601421 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms; DNA:SNP: :677C>T (human) PMID:12471611|REF_RGD_ID:10449400 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9296 cleft lip ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16470725 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9296 cleft lip susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.677C>T(human) PMID:27387868|REF_RGD_ID:11565179 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9351 diabetes mellitus no_association ISO RGD:733483 D RGD:9068941 20200813 RGD DNA:transition:cds:g.677C>T (human) PMID:9607212|REF_RGD_ID:38501049 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:19996639|REF_RGD_ID:6893653 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) PMID:16828193|REF_RGD_ID:6893657 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:21186995|REF_RGD_ID:6893476 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9406 hypopituitarism ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T, 1298A>C(human) PMID:21107737|REF_RGD_ID:10449406 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9452 fatty liver disease ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic; DNA:transition:cds:g.677C>T (human) PMID:15834927|REF_RGD_ID:1580580 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9477 pulmonary embolism ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19123085 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9538 multiple myeloma ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:677C>T, 1298A>C (human) PMID:24839819|REF_RGD_ID:10449397 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9663 aphthous stomatitis severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:677C>T (rs1801133) (human) PMID:23665953|REF_RGD_ID:10449402 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9744 type 1 diabetes mellitus severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transversion:cds:g.1298A>C (human) PMID:18774994|REF_RGD_ID:6893652 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9849 Meniere's disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T(rs1801133),1298A>C(1801131)(human) PMID:23484733|REF_RGD_ID:7387223 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:987 alopecia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18381794 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16706930 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:677C>T (p.A222V) (rs1801133) (human) PMID:19923983|REF_RGD_ID:10449398 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:677C>T (human) PMID:21644011|REF_RGD_ID:10449407 11673891 ZG16 zymogen granule protein 16 gene DOID:0060041 autism spectrum disorder ISO RGD:732666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 11673891 ZG16 zymogen granule protein 16 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:732666 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 11673891 ZG16 zymogen granule protein 16 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:732666 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 11673891 ZG16 zymogen granule protein 16 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:732666 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 11673891 ZG16 zymogen granule protein 16 gene DOID:12849 autistic disorder ISO RGD:732666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11673891 ZG16 zymogen granule protein 16 gene DOID:1882 atrial heart septal defect ISO RGD:732666 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 11673891 ZG16 zymogen granule protein 16 gene DOID:5419 schizophrenia ISO RGD:732666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11673891 ZG16 zymogen granule protein 16 gene DOID:630 genetic disease ISO RGD:732666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673891 ZG16 zymogen granule protein 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11673891 ZG16 zymogen granule protein 16 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:732666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 11673904 ARMT1 acidic residue methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1313144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673916 MVB12A multivesicular body subunit 12A gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1604253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid progression to AIDS 11673916 MVB12A multivesicular body subunit 12A gene DOID:630 genetic disease ISO RGD:1604253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673929 FAM83C family with sequence similarity 83 member C gene DOID:10283 prostate cancer ISO RGD:1344185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11673929 FAM83C family with sequence similarity 83 member C gene DOID:630 genetic disease ISO RGD:1344185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673939 E2F1 E2F transcription factor 1 gene DOID:0080600 COVID-19 ISO RGD:730923 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11673939 E2F1 E2F transcription factor 1 gene DOID:10283 prostate cancer ISO RGD:730923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11673939 E2F1 E2F transcription factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:730923 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex,cytoplasm: PMID:11939591|REF_RGD_ID:10401093 11673939 E2F1 E2F transcription factor 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:730923 D RGD:9068941 20200609 RGD mRNA:increased expression:bladder PMID:20421545|REF_RGD_ID:13602004 11673939 E2F1 E2F transcription factor 1 gene DOID:12858 Huntington's disease ISO RGD:728892 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:18768156|REF_RGD_ID:2316262 11673939 E2F1 E2F transcription factor 1 gene DOID:12858 Huntington's disease ISO RGD:730923 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:18768156|REF_RGD_ID:2316262 11673939 E2F1 E2F transcription factor 1 gene DOID:12894 Sjogren's syndrome ISO RGD:730924 D RGD:9068941 20220825 MouseDO OMIM:270150 11673939 E2F1 E2F transcription factor 1 gene DOID:1307 dementia ISO RGD:730923 D RGD:9068941 20200609 RGD associated with Down Syndrome;protein:increased expression:frontal cortex; PMID:11423103|REF_RGD_ID:10401091 11673939 E2F1 E2F transcription factor 1 gene DOID:14566 disease of cellular proliferation ISO RGD:730923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29464002 11673939 E2F1 E2F transcription factor 1 gene DOID:1793 pancreatic cancer treatment ISO RGD:728892 D RGD:9068941 20200609 RGD PMID:28344092|REF_RGD_ID:13838737 11673939 E2F1 E2F transcription factor 1 gene DOID:1909 melanoma ISO RGD:730923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15574415|PMID:16827129 11673939 E2F1 E2F transcription factor 1 gene DOID:2843 long QT syndrome ISO RGD:730923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11673939 E2F1 E2F transcription factor 1 gene DOID:3068 glioblastoma disease_progression ISO RGD:730923 D RGD:9068941 20200609 RGD PMID:16264179|REF_RGD_ID:13702471 11673939 E2F1 E2F transcription factor 1 gene DOID:3070 high grade glioma severity ISO RGD:730923 D RGD:9068941 20200609 RGD PMID:28042322|REF_RGD_ID:13702468 11673939 E2F1 E2F transcription factor 1 gene DOID:3347 osteosarcoma ISO RGD:730923 D RGD:9068941 20220128 RGD human cells in mouse model PMID:29039472|REF_RGD_ID:151347601 11673939 E2F1 E2F transcription factor 1 gene DOID:3347 osteosarcoma severity ISO RGD:730923 D RGD:9068941 20220128 RGD protein:increased expression:bone (human) PMID:29039472|REF_RGD_ID:151347601 11673939 E2F1 E2F transcription factor 1 gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:730923 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic ductal cell, nucleus (human) PMID:27573434|REF_RGD_ID:13838738 11673939 E2F1 E2F transcription factor 1 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:730923 D RGD:9068941 20200609 RGD DNA:amplification: : (human) PMID:17233815|REF_RGD_ID:13838739 11673939 E2F1 E2F transcription factor 1 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:730923 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic ductal cell, nucleus (human) PMID:12650514|REF_RGD_ID:13838735 11673939 E2F1 E2F transcription factor 1 gene DOID:3907 lung squamous cell carcinoma treatment ISO RGD:730923 D RGD:9068941 20200609 RGD PMID:28927142|REF_RGD_ID:13464332 11673939 E2F1 E2F transcription factor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 11673939 E2F1 E2F transcription factor 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:730923 D RGD:9068941 20200609 RGD PMID:12237873|REF_RGD_ID:13464342 11673939 E2F1 E2F transcription factor 1 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:730923 D RGD:9068941 20200609 RGD PMID:23543735|REF_RGD_ID:9590260 11673939 E2F1 E2F transcription factor 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:730923 D RGD:9068941 20200609 RGD PMID:12358350|PMID:28498400|REF_RGD_ID:13464333|REF_RGD_ID:13464343 11673939 E2F1 E2F transcription factor 1 gene DOID:3910 lung adenocarcinoma ISO RGD:730923 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:26695082|REF_RGD_ID:13464334 11673939 E2F1 E2F transcription factor 1 gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:730923 D RGD:9068941 20200609 RGD Human cells in a mouse model PMID:28797284|REF_RGD_ID:13838736 11673939 E2F1 E2F transcription factor 1 gene DOID:5409 lung small cell carcinoma ISO RGD:730923 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:11313916|REF_RGD_ID:13464344 11673939 E2F1 E2F transcription factor 1 gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:730923 D RGD:9068941 20200609 RGD PMID:24755270|REF_RGD_ID:13464335 11673939 E2F1 E2F transcription factor 1 gene DOID:5409 lung small cell carcinoma treatment ISO RGD:730923 D RGD:9068941 20200609 RGD PMID:23792570|REF_RGD_ID:13464337 11673939 E2F1 E2F transcription factor 1 gene DOID:630 genetic disease ISO RGD:730923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673939 E2F1 E2F transcription factor 1 gene DOID:646 viral encephalitis ISO RGD:730923 D RGD:9068941 20200609 RGD associated with HIV Infections; protein:increased expression:brain, neuron, cytoplasm: PMID:11896158|REF_RGD_ID:10401094 11673939 E2F1 E2F transcription factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:730923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12029619|PMID:15565109|PMID:28284560 11673939 E2F1 E2F transcription factor 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:730923 D RGD:9068941 20200609 RGD mRNA:increased expression:blood PMID:26460262|REF_RGD_ID:13674165 11673939 E2F1 E2F transcription factor 1 gene DOID:9000965 Neoplasm Metastasis severity ISO RGD:730923 D RGD:9068941 20220128 RGD protein:increased expression:bone (human) PMID:29039472|REF_RGD_ID:151347601 11673939 E2F1 E2F transcription factor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30515189 11673939 E2F1 E2F transcription factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:730923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14672398 11673939 E2F1 E2F transcription factor 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730924 D RGD:9068941 20200609 RGD E2f1/E2f2 double knockout PMID:15146237|REF_RGD_ID:1300306 11673939 E2F1 E2F transcription factor 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730924 D RGD:9068941 20220825 MouseDO OMIM:222100 11673955 KCTD10 potassium channel tetramerization domain containing 10 gene DOID:630 genetic disease ISO RGD:1347079 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673988 FAM9C family with sequence similarity 9 member C gene DOID:0050777 Joubert syndrome ISO RGD:1345371 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:27081566|PMID:28492532 11673988 FAM9C family with sequence similarity 9 member C gene DOID:12849 autistic disorder ISO RGD:1345371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11673988 FAM9C family with sequence similarity 9 member C gene DOID:630 genetic disease ISO RGD:1345371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673988 FAM9C family with sequence similarity 9 member C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11674006 JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:1909 melanoma ISO RGD:1313400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 11674006 JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:6039 uveal melanoma ISO RGD:1313400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 11674006 JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:630 genetic disease ISO RGD:1313400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674006 JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:8923 skin melanoma ISO RGD:1313400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 11674006 JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 11674006 JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1313400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 11674006 JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:9003566 Mesothelioma ISO RGD:1313400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 11674006 JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:9008939 Breast Neoplasms ISO RGD:1313400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 11674022 SPIB Spi-B transcription factor gene DOID:12236 primary biliary cholangitis ISO RGD:1347644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20639880 11674022 SPIB Spi-B transcription factor gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1347644 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 11674022 SPIB Spi-B transcription factor gene DOID:630 genetic disease ISO RGD:1347644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674050 TBK1 TANK binding kinase 1 gene DOID:0081013 severe COVID-19 ISO RGD:1313752 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to severe COVID-19 PMID:25741868|PMID:28492532 11674050 TBK1 TANK binding kinase 1 gene DOID:0110069 frontotemporal dementia and/or amyotrophic lateral sclerosis-4 ISO RGD:1313752 D RGD:7240710 20230517 OMIM 11674050 TBK1 TANK binding kinase 1 gene DOID:0110069 frontotemporal dementia and/or amyotrophic lateral sclerosis-4 ISO RGD:1313752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 PMID:16199547|PMID:17576681|PMID:21447600|PMID:23453972|PMID:24033266|PMID:25700176|PMID:25741868|PMID:25803835|PMID:25943890|PMID:26476236|PMID:26581300|PMID:26804609|PMID:27156075|PMID:27892983|PMID:28008748|PMID:28089114|PMID:28365590|PMID:28492532|PMID:28822984|PMID:29146049|PMID:29398122|PMID:30033073|PMID:30739198|PMID:31000212|PMID:31244341|PMID:31475037|PMID:31498468|PMID:31748271|PMID:31914217|PMID:31996268|PMID:32317127|PMID:32409511|PMID:32447396|PMID:32579787|PMID:32638105|PMID:32772249|PMID:32980182|PMID:33208543|PMID:33245169|PMID:34363755|PMID:9536098 11674050 TBK1 TANK binding kinase 1 gene DOID:0110823 hereditary spastic paraplegia 8 ISO RGD:1313752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 PMID:25741868 11674050 TBK1 TANK binding kinase 1 gene DOID:1070 primary open angle glaucoma ISO RGD:1313752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:25700176|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532 11674050 TBK1 TANK binding kinase 1 gene DOID:231 motor neuron disease ISO RGD:1313752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Motor neuron disease PMID:21447600|PMID:25700176|PMID:25803835|PMID:26476236|PMID:26581300|PMID:26804609|PMID:28089114|PMID:28492532|PMID:31996268|PMID:32317127 11674050 TBK1 TANK binding kinase 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1313752 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26861016 11674050 TBK1 TANK binding kinase 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1313752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:16199547|PMID:25741868|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532|PMID:33245169 11674050 TBK1 TANK binding kinase 1 gene DOID:630 genetic disease ISO RGD:1313752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11674050 TBK1 TANK binding kinase 1 gene DOID:9000417 Glaucoma 1, Open Angle, P ISO RGD:1313752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma 1, open angle, P PMID:24033266|PMID:25741868|PMID:28492532 11674050 TBK1 TANK binding kinase 1 gene DOID:9003457 Primary Progressive Nonfluent Aphasia ISO RGD:1313752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary progressive non fluent aphasia 11674050 TBK1 TANK binding kinase 1 gene DOID:9009143 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 8 ISO RGD:1313752 D RGD:7240710 20230517 OMIM 11674050 TBK1 TANK binding kinase 1 gene DOID:9009143 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 8 ISO RGD:1313752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 PMID:22851595|PMID:25741868|PMID:26513235|PMID:28492532|PMID:30033073|PMID:31244341 11674080 RPL30 ribosomal protein L30 gene DOID:630 genetic disease ISO RGD:731558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674080 RPL30 ribosomal protein L30 gene DOID:8566 herpes simplex ISO RGD:731558 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:ribosome PMID:7588575|REF_RGD_ID:11039399 11674088 LHFPL4 LHFPL tetraspan subfamily member 4 gene DOID:2843 long QT syndrome ISO RGD:1604456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11674088 LHFPL4 LHFPL tetraspan subfamily member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11674088 LHFPL4 LHFPL tetraspan subfamily member 4 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1604456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 11674095 AIMP1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 gene DOID:0060790 hypomyelinating leukodystrophy 3 ISO RGD:1344147 D RGD:7240710 20180130 OMIM 11674095 AIMP1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 gene DOID:0060790 hypomyelinating leukodystrophy 3 ISO RGD:1344147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 3 PMID:21092922|PMID:23806086|PMID:24088041|PMID:24958424|PMID:25741868|PMID:26257172|PMID:28492532|PMID:30828585|PMID:30924036|PMID:32531460 11674095 AIMP1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 gene DOID:1289 neurodegenerative disease ISO RGD:620466 D RGD:9068941 20200609 RGD PMID:12429238|REF_RGD_ID:724676 11674095 AIMP1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 gene DOID:5844 myocardial infarction ISO RGD:620466 D RGD:9068941 20200609 RGD PMID:14732363|REF_RGD_ID:1580021 11674095 AIMP1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 gene DOID:630 genetic disease ISO RGD:1344147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11674095 AIMP1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1344147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotonia PMID:25741868 11674117 SLC16A13 solute carrier family 16 member 13 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1354212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11674117 SLC16A13 solute carrier family 16 member 13 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1354212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 11674117 SLC16A13 solute carrier family 16 member 13 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1354212 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11674117 SLC16A13 solute carrier family 16 member 13 gene DOID:12177 common variable immunodeficiency ISO RGD:1354212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11674117 SLC16A13 solute carrier family 16 member 13 gene DOID:2729 dyskeratosis congenita ISO RGD:1354212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11674117 SLC16A13 solute carrier family 16 member 13 gene DOID:630 genetic disease ISO RGD:1354212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1349923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1349923 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1349923 D RGD:7240710 20180130 OMIM 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1349923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:12872255|PMID:16199547|PMID:17576681|PMID:18414213|PMID:22304930|PMID:22492991|PMID:22742743|PMID:22786653|PMID:23249953|PMID:23430862|PMID:23591138|PMID:23806237|PMID:24033266|PMID:24759841|PMID:25326635|PMID:25500013|PMID:25741868|PMID:26467025|PMID:28454995|PMID:28492532|PMID:28662078|PMID:28712839|PMID:30117111|PMID:30388443|PMID:31127727|PMID:31153949|PMID:31589614|PMID:33743358|PMID:9536098 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0080690 RASopathy ISO RGD:1349923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:22742743|PMID:28492532 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1349923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0110651 long QT syndrome 10 ISO RGD:1349923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1349923 D RGD:7240710 20180130 OMIM 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1349923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 13 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 PMID:12872255|PMID:16199547|PMID:17576681|PMID:18414213|PMID:22742743|PMID:22786653|PMID:23249953|PMID:23430862|PMID:23591138|PMID:23806237|PMID:24033266|PMID:24759841|PMID:25500013|PMID:25741868|PMID:26467025|PMID:28454995|PMID:28492532|PMID:28662078|PMID:28712839|PMID:30117111|PMID:30388443|PMID:31127727|PMID:31153949|PMID:31589614|PMID:33743358|PMID:9536098 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1349923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1349923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1349923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1349923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:3133 acute porphyria ISO RGD:1349923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute Porphyria PMID:18414213|PMID:25741868|PMID:28492532 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1349923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:3890 acute intermittent porphyria ISO RGD:1349923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: Porphyria, Swedish type PMID:18414213|PMID:25741868|PMID:28492532 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1349923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:12872255|PMID:18414213|PMID:22304930|PMID:22742743|PMID:23806237|PMID:25741868|PMID:28492532|PMID:30117111|PMID:31589614|PMID:33743358 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:5419 schizophrenia ISO RGD:1349923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:630 genetic disease ISO RGD:1349923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:22742743|PMID:23806237|PMID:25741868|PMID:28492532|PMID:30117111|PMID:31589614|PMID:33743358|PMID:9536098 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1349923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:9000918 Disease Progression ISO RGD:1349923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1349923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:9007661 Dwarfism ISO RGD:1349923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1349923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 11674157 SMIM9 small integral membrane protein 9 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:5481439 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11674157 SMIM9 small integral membrane protein 9 gene DOID:0050476 Barth syndrome ISO RGD:5481439 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11674157 SMIM9 small integral membrane protein 9 gene DOID:0050800 creatine transporter deficiency ISO RGD:5481439 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11674157 SMIM9 small integral membrane protein 9 gene DOID:0112003 immunodeficiency 33 ISO RGD:5481439 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11674157 SMIM9 small integral membrane protein 9 gene DOID:10588 adrenoleukodystrophy ISO RGD:5481439 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11674157 SMIM9 small integral membrane protein 9 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:5481439 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11674157 SMIM9 small integral membrane protein 9 gene DOID:12134 factor VIII deficiency ISO RGD:5481439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Factor VIII deficiency, congenital PMID:2105106 11674157 SMIM9 small integral membrane protein 9 gene DOID:12849 autistic disorder ISO RGD:5481439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11674157 SMIM9 small integral membrane protein 9 gene DOID:13628 favism ISO RGD:5481439 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11674157 SMIM9 small integral membrane protein 9 gene DOID:2729 dyskeratosis congenita ISO RGD:5481439 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11674157 SMIM9 small integral membrane protein 9 gene DOID:607 paraplegia ISO RGD:5481439 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11674157 SMIM9 small integral membrane protein 9 gene DOID:630 genetic disease ISO RGD:5481439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674157 SMIM9 small integral membrane protein 9 gene DOID:9002720 Splenomegaly ISO RGD:5481439 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11674175 LOC100995817 protein ARMCX6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11674175 LOC100995817 protein ARMCX6 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1352776 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 11674175 LOC100995817 protein ARMCX6 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1352776 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 11674175 LOC100995817 protein ARMCX6 gene DOID:12849 autistic disorder ISO RGD:1352776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11674175 LOC100995817 protein ARMCX6 gene DOID:630 genetic disease ISO RGD:1352776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674196 ZNF771 zinc finger protein 771 gene DOID:630 genetic disease ISO RGD:1605390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674204 TTC36 tetratricopeptide repeat domain 36 gene DOID:0060017 CD3epsilon deficiency ISO RGD:2293598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11674204 TTC36 tetratricopeptide repeat domain 36 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:2293598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11674204 TTC36 tetratricopeptide repeat domain 36 gene DOID:0080690 RASopathy ISO RGD:2293598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11674204 TTC36 tetratricopeptide repeat domain 36 gene DOID:0081330 glycogen storage disease Ib ISO RGD:2293598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 11674204 TTC36 tetratricopeptide repeat domain 36 gene DOID:0110651 long QT syndrome 10 ISO RGD:2293598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11674204 TTC36 tetratricopeptide repeat domain 36 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:2293598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11674204 TTC36 tetratricopeptide repeat domain 36 gene DOID:0111971 immunodeficiency 18 ISO RGD:2293598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11674204 TTC36 tetratricopeptide repeat domain 36 gene DOID:0111972 immunodeficiency 19 ISO RGD:2293598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11674204 TTC36 tetratricopeptide repeat domain 36 gene DOID:0111973 immunodeficiency 17 ISO RGD:2293598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11674204 TTC36 tetratricopeptide repeat domain 36 gene DOID:630 genetic disease ISO RGD:2293598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674204 TTC36 tetratricopeptide repeat domain 36 gene DOID:684 hepatocellular carcinoma ISO RGD:2293598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11674204 TTC36 tetratricopeptide repeat domain 36 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2293598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11674204 TTC36 tetratricopeptide repeat domain 36 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:2293598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11674204 TTC36 tetratricopeptide repeat domain 36 gene DOID:9007661 Dwarfism ISO RGD:2293598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11674211 PHOSPHO2 phosphatase, orphan 2 gene DOID:630 genetic disease ISO RGD:1603445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674251 STC1 stanniocalcin 1 gene DOID:630 genetic disease ISO RGD:730961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674251 STC1 stanniocalcin 1 gene DOID:9004009 Reperfusion Injury ISO RGD:621776 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:15485913|REF_RGD_ID:2324700 11674259 UBE2W ubiquitin conjugating enzyme E2 W gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:1605362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K PMID:15805163|PMID:20685671|PMID:21681106 11674272 CWC25 CWC25 spliceosome associated protein homolog gene DOID:630 genetic disease ISO RGD:1603211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674286 PRR14 proline rich 14 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1604599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11674286 PRR14 proline rich 14 gene DOID:630 genetic disease ISO RGD:1604599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674305 EXOC4 exocyst complex component 4 gene DOID:0050778 Meckel syndrome ISO RGD:1353036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25558065 11674305 EXOC4 exocyst complex component 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11674305 EXOC4 exocyst complex component 4 gene DOID:630 genetic disease ISO RGD:1353036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674327 SRL sarcalumenin gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1315254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11674327 SRL sarcalumenin gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1315254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 11674327 SRL sarcalumenin gene DOID:1059 intellectual disability ISO RGD:1315254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11674327 SRL sarcalumenin gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1315254 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868 11674327 SRL sarcalumenin gene DOID:1682 congenital heart disease ISO RGD:1315254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 11674327 SRL sarcalumenin gene DOID:1826 epilepsy ISO RGD:1315254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11674327 SRL sarcalumenin gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1315254 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11674327 SRL sarcalumenin gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1315254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 PMID:12114483|PMID:15706485|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 11674327 SRL sarcalumenin gene DOID:630 genetic disease ISO RGD:1315254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674342 BTN1A1 butyrophilin subfamily 1 member A1 gene DOID:630 genetic disease ISO RGD:1315909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674359 YBX3 Y-box binding protein 3 gene DOID:630 genetic disease ISO RGD:733766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674359 YBX3 Y-box binding protein 3 gene DOID:9008091 Optic Nerve Injuries ISO RGD:621056 D RGD:9068941 20200609 RGD mRNA:increased expression:retinal ganglion cell PMID:11750989|REF_RGD_ID:2311250 11674373 QTRT1 queuine tRNA-ribosyltransferase catalytic subunit 1 gene DOID:630 genetic disease ISO RGD:732681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674393 DTL denticleless E3 ubiquitin protein ligase homolog gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1604818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11674393 DTL denticleless E3 ubiquitin protein ligase homolog gene DOID:0080600 COVID-19 ISO RGD:1604818 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11674393 DTL denticleless E3 ubiquitin protein ligase homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1604818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11674393 DTL denticleless E3 ubiquitin protein ligase homolog gene DOID:630 genetic disease ISO RGD:1604818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674393 DTL denticleless E3 ubiquitin protein ligase homolog gene DOID:684 hepatocellular carcinoma ISO RGD:1604818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11674393 DTL denticleless E3 ubiquitin protein ligase homolog gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1604818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11674393 DTL denticleless E3 ubiquitin protein ligase homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11674412 NUDT1 nudix hydrolase 1 gene DOID:10652 Alzheimer's disease ISO RGD:731881 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:21538080|REF_RGD_ID:10449033 11674412 NUDT1 nudix hydrolase 1 gene DOID:10763 hypertension ISO RGD:621080 D RGD:9068941 20200609 RGD PMID:17280880|REF_RGD_ID:10449166 11674412 NUDT1 nudix hydrolase 1 gene DOID:630 genetic disease ISO RGD:731881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674412 NUDT1 nudix hydrolase 1 gene DOID:9001191 Cadmium Poisoning ISO RGD:621080 D RGD:9068941 20200609 RGD PMID:11817101|REF_RGD_ID:633232 11674412 NUDT1 nudix hydrolase 1 gene DOID:9002644 Premature Aging ISO RGD:731882 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:hippocampus PMID:21538080|REF_RGD_ID:10449033 11674412 NUDT1 nudix hydrolase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:621080 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:12036445|REF_RGD_ID:724605 11674412 NUDT1 nudix hydrolase 1 gene DOID:9008691 Liver Injury ISO RGD:621080 D RGD:9068941 20200609 RGD PMID:9547863|REF_RGD_ID:10449034 11674421 PDCD6IP programmed cell death 6 interacting protein gene DOID:630 genetic disease ISO RGD:68505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674421 PDCD6IP programmed cell death 6 interacting protein gene DOID:8398 osteoarthritis ISO RGD:68505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11674421 PDCD6IP programmed cell death 6 interacting protein gene DOID:9003562 Primary Autosomal Recessive Microcephaly 29 ISO RGD:68505 D RGD:7240710 20221012 OMIM 11674448 RUFY4 RUN and FYVE domain containing 4 gene DOID:630 genetic disease ISO RGD:1602820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674448 RUFY4 RUN and FYVE domain containing 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11674465 DVL3 dishevelled segment polarity protein 3 gene DOID:0060254 Robinow syndrome ISO RGD:1318833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11674465 DVL3 dishevelled segment polarity protein 3 gene DOID:0060765 autosomal dominant Robinow syndrome 2 ISO RGD:1318833 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 PMID:23806086|PMID:24088041|PMID:25741868|PMID:26924530|PMID:29276006 11674465 DVL3 dishevelled segment polarity protein 3 gene DOID:0060766 autosomal dominant Robinow syndrome 1 ISO RGD:1318833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 PMID:23806086|PMID:24088041|PMID:25741868|PMID:26924530 11674465 DVL3 dishevelled segment polarity protein 3 gene DOID:0060767 autosomal dominant Robinow syndrome 3 ISO RGD:1318833 D RGD:7240710 20190315 OMIM 11674465 DVL3 dishevelled segment polarity protein 3 gene DOID:0060767 autosomal dominant Robinow syndrome 3 ISO RGD:1318833 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3 PMID:23806086|PMID:24088041|PMID:25741868|PMID:26924530|PMID:28492532 11674465 DVL3 dishevelled segment polarity protein 3 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1318833 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11674465 DVL3 dishevelled segment polarity protein 3 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1318833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11674465 DVL3 dishevelled segment polarity protein 3 gene DOID:0111546 Currarino syndrome ISO RGD:1318833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11674465 DVL3 dishevelled segment polarity protein 3 gene DOID:1324 lung cancer ISO RGD:1318833 D RGD:9068941 20220721 RGD DNA:SNP:intron:rs1969253 (human) PMID:29193083|REF_RGD_ID:153297750 11674465 DVL3 dishevelled segment polarity protein 3 gene DOID:630 genetic disease ISO RGD:1318833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11674465 DVL3 dishevelled segment polarity protein 3 gene DOID:9007661 Dwarfism ISO RGD:1318833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11674489 SRFBP1 serum response factor binding protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603357 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11674489 SRFBP1 serum response factor binding protein 1 gene DOID:0080685 aortic dissection ISO RGD:1603357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute aortic dissection PMID:12417550|PMID:26838787|PMID:27432961|PMID:28492532|PMID:30675029|PMID:31211696|PMID:31459939 11674489 SRFBP1 serum response factor binding protein 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1603357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12417550|PMID:24033266|PMID:25741868|PMID:26838787|PMID:27432961|PMID:28492532|PMID:30675029|PMID:31211696|PMID:31459939|PMID:34281165 11674489 SRFBP1 serum response factor binding protein 1 gene DOID:3144 cutis laxa ISO RGD:1603357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa PMID:25741868 11674489 SRFBP1 serum response factor binding protein 1 gene DOID:630 genetic disease ISO RGD:1603357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26838787|PMID:28492532|PMID:29961567 11674489 SRFBP1 serum response factor binding protein 1 gene DOID:65 connective tissue disease ISO RGD:1603357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 11674489 SRFBP1 serum response factor binding protein 1 gene DOID:9000442 Familial Thoracic Aortic Aneurysm 10 ISO RGD:1603357 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-Related Disorder | ClinVar Annotator: match by term: LOX-related disorders PMID:12417550|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25017124|PMID:25741868|PMID:26838787|PMID:27432961|PMID:28492532|PMID:29086201|PMID:29961567|PMID:30675029|PMID:31211624|PMID:31506931|PMID:32860008|PMID:33648514|PMID:34281165|PMID:9536098 11674489 SRFBP1 serum response factor binding protein 1 gene DOID:9002884 Emphysema ISO RGD:1603357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emphysema PMID:25741868 11674489 SRFBP1 serum response factor binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11674489 SRFBP1 serum response factor binding protein 1 gene DOID:9005883 Pleural Effusion ISO RGD:1603357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleural effusion PMID:25741868 11674489 SRFBP1 serum response factor binding protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603357 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11674489 SRFBP1 serum response factor binding protein 1 gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:1603357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial aortic dissection | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:12417550|PMID:26838787|PMID:27432961|PMID:28492532|PMID:30675029|PMID:31211696|PMID:31459939 11674489 SRFBP1 serum response factor binding protein 1 gene DOID:9675 pulmonary emphysema ISO RGD:1603357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary emphysema PMID:25741868 11674501 ATRIP ATR interacting protein gene DOID:0050569 Seckel syndrome ISO RGD:1625848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seckel syndrome PMID:25741868 11674501 ATRIP ATR interacting protein gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1625848 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME PMID:16845398|PMID:17846997|PMID:20131292|PMID:23602593|PMID:24033266|PMID:24183309|PMID:24300241|PMID:25582466|PMID:25604658|PMID:25741868|PMID:26467025|PMID:26938784|PMID:28492532|PMID:28750028 11674501 ATRIP ATR interacting protein gene DOID:0060386 Chilblain lupus ISO RGD:1625848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chilblain lupus PMID:16960810|PMID:17357087|PMID:17440703|PMID:18805785|PMID:20799324|PMID:20871604|PMID:21808053|PMID:22829693|PMID:23989343|PMID:25848017|PMID:28492532 11674501 ATRIP ATR interacting protein gene DOID:0111567 retinal vasculopathy with cerebral leukodystrophy ISO RGD:1625848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | ClinVar Annotator: match by term: Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena PMID:16845398|PMID:17293595|PMID:17660818|PMID:17660820|PMID:17846997|PMID:1821204|PMID:18583934|PMID:18805785|PMID:20131292|PMID:21270825|PMID:21937424|PMID:23602593|PMID:23881107|PMID:23979357|PMID:24033266|PMID:24183309|PMID:24224166|PMID:25138095|PMID:25582466|PMID:25604658|PMID:25741868|PMID:25906927|PMID:26182405|PMID:26467025|PMID:26938784|PMID:27391121|PMID:27604306|PMID:28089741|PMID:28492532|PMID:29239743|PMID:30219631|PMID:3174024|PMID:31980526|PMID:33504652|PMID:34426522|PMID:9371916 11674501 ATRIP ATR interacting protein gene DOID:13945 CADASIL ISO RGD:1625848 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy PMID:17660818|PMID:21270825|PMID:23881107|PMID:28492532|PMID:35307828 11674501 ATRIP ATR interacting protein gene DOID:630 genetic disease ISO RGD:1625848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16845398|PMID:17293595|PMID:17660818|PMID:17660820|PMID:17846997|PMID:18583934|PMID:18805785|PMID:20131292|PMID:21270825|PMID:21937424|PMID:23881107|PMID:23979357|PMID:24033266|PMID:24183309|PMID:24224166|PMID:25138095|PMID:25500883|PMID:25604658|PMID:25741868|PMID:25906927|PMID:26182405|PMID:26467025|PMID:27391121|PMID:28089741|PMID:28492532|PMID:29239743|PMID:30219631|PMID:31980526|PMID:33504652|PMID:33606975|PMID:34426522 11674501 ATRIP ATR interacting protein gene DOID:8725 vascular dementia ISO RGD:1625848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:17660818|PMID:21270825|PMID:23881107|PMID:28492532|PMID:35307828 11674501 ATRIP ATR interacting protein gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:1625848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombotic microangiopathy PMID:29941221 11674501 ATRIP ATR interacting protein gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1625848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:16960810|PMID:17293595|PMID:17357087|PMID:17440703|PMID:17660818|PMID:17660820|PMID:17846997|PMID:1821204|PMID:18583934|PMID:18805785|PMID:19344873|PMID:19875384|PMID:20131292|PMID:20799324|PMID:20871604|PMID:21270825|PMID:21808053|PMID:21937424|PMID:22367235|PMID:22829693|PMID:23602593|PMID:23881107|PMID:23918923|PMID:23979357|PMID:23989343|PMID:24033266|PMID:24088041|PMID:24183309|PMID:24224166|PMID:24300241|PMID:25138095|PMID:25500883|PMID:25582466|PMID:25604658|PMID:25741868|PMID:25848017|PMID:25906927|PMID:26150267|PMID:26182405|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26691497|PMID:26938784|PMID:27391121|PMID:27604306|PMID:28089741|PMID:28492532|PMID:28750028|PMID:28919362|PMID:29239743|PMID:29387804|PMID:29453956|PMID:30219631|PMID:31130681|PMID:31589614|PMID:31719132|PMID:3174024|PMID:31980526|PMID:32860008|PMID:33504652|PMID:33606975|PMID:33892200|PMID:34426522|PMID:34440436|PMID:35307828 11674501 ATRIP ATR interacting protein gene DOID:9005881 Chilblain Lupus 1 ISO RGD:1625848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chilblain lupus 1 PMID:16845398|PMID:23602593|PMID:24183309|PMID:25582466|PMID:25604658|PMID:25741868|PMID:26938784|PMID:28492532 11674501 ATRIP ATR interacting protein gene DOID:9074 systemic lupus erythematosus ISO RGD:1625848 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to PMID:16845398|PMID:17293595|PMID:17660818|PMID:17660820|PMID:17846997|PMID:18583934|PMID:18805785|PMID:20131292|PMID:21270825|PMID:21937424|PMID:23881107|PMID:24033266|PMID:24224166|PMID:24300241|PMID:25138095|PMID:25582466|PMID:25604658|PMID:25741868|PMID:25906927|PMID:26182405|PMID:26467025|PMID:27391121|PMID:28089741|PMID:28492532|PMID:28750028|PMID:29239743|PMID:30219631|PMID:31980526|PMID:33504652|PMID:34426522 11674527 LAT linker for activation of T cells gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1342944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 11674527 LAT linker for activation of T cells gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1342944 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 11674527 LAT linker for activation of T cells gene DOID:0080356 IgG4-related disease ISO RGD:734455 D RGD:9068941 20220825 MouseDO 11674527 LAT linker for activation of T cells gene DOID:0111983 immunodeficiency 52 ISO RGD:1342944 D RGD:7240710 20190315 OMIM 11674527 LAT linker for activation of T cells gene DOID:0111983 immunodeficiency 52 ISO RGD:1342944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to LAT deficiency PMID:25741868|PMID:27242165|PMID:27522155|PMID:28492532 11674527 LAT linker for activation of T cells gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1342944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 11674527 LAT linker for activation of T cells gene DOID:3602 toxic encephalopathy ISO RGD:1342944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11674527 LAT linker for activation of T cells gene DOID:409 liver disease ISO RGD:1342944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11674527 LAT linker for activation of T cells gene DOID:5419 schizophrenia ISO RGD:1342944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11674527 LAT linker for activation of T cells gene DOID:630 genetic disease ISO RGD:1342944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11674527 LAT linker for activation of T cells gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1342944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 11674528 E2F2 E2F transcription factor 2 gene DOID:0080600 COVID-19 ISO RGD:1348982 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11674528 E2F2 E2F transcription factor 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1348982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 11674528 E2F2 E2F transcription factor 2 gene DOID:630 genetic disease ISO RGD:1348982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674528 E2F2 E2F transcription factor 2 gene DOID:9000918 Disease Progression ISO RGD:1348982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 11674528 E2F2 E2F transcription factor 2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1348982 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11674528 E2F2 E2F transcription factor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1616520 D RGD:9068941 20200609 RGD E2f1/E2f2 double knockout PMID:15146237|REF_RGD_ID:1300306 11674543 GCNT3 glucosaminyl (N-acetyl) transferase 3, mucin type gene DOID:2717 Bloom syndrome ISO RGD:1344597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11674543 GCNT3 glucosaminyl (N-acetyl) transferase 3, mucin type gene DOID:630 genetic disease ISO RGD:1344597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674543 GCNT3 glucosaminyl (N-acetyl) transferase 3, mucin type gene DOID:9256 colorectal cancer ISO RGD:1344597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11674554 EXTL3 exostosin like glycosyltransferase 3 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:735783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11674554 EXTL3 exostosin like glycosyltransferase 3 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:735783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11674554 EXTL3 exostosin like glycosyltransferase 3 gene DOID:630 genetic disease ISO RGD:735783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11674554 EXTL3 exostosin like glycosyltransferase 3 gene DOID:9001094 Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities ISO RGD:735783 D RGD:7240710 20190315 OMIM 11674554 EXTL3 exostosin like glycosyltransferase 3 gene DOID:9001094 Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities ISO RGD:735783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunoskeletal dysplasia with neurodevelopmental abnormalities PMID:25741868|PMID:28132690|PMID:28148688|PMID:28492532 11674581 FZD3 frizzled class receptor 3 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:732935 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11674581 FZD3 frizzled class receptor 3 gene DOID:0070338 cerebellar hypoplasia ISO RGD:732935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 11674581 FZD3 frizzled class receptor 3 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:732935 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11674581 FZD3 frizzled class receptor 3 gene DOID:1928 Williams-Beuren syndrome ISO RGD:732935 D RGD:9068941 20200609 RGD maps to 2 Mb in chromosome band 7q11.23 deleted in WS PMID:9147651|REF_RGD_ID:1582654 11674581 FZD3 frizzled class receptor 3 gene DOID:5419 schizophrenia ISO RGD:732935 D RGD:9068941 20200609 RGD IVS3+258T>C polymorphism and/or IVS3+258T−435G haplotype in a Japanese population PMID:14642436|REF_RGD_ID:1582649 11674581 FZD3 frizzled class receptor 3 gene DOID:5419 schizophrenia ISO RGD:732935 D RGD:9068941 20200609 RGD SNPs rs2323019 or rs880481 and/or three-locus haplotype ATG or GCG for SNPs rs2323019-rs352203-rs880481; Chinese Han population PMID:15274031|REF_RGD_ID:1582650 11674581 FZD3 frizzled class receptor 3 gene DOID:5419 schizophrenia no_association ISO RGD:732935 D RGD:9068941 20200609 RGD SNPs rs960914, rs2241802, rs2323019 and rs352203; Japanese population PMID:15657645|REF_RGD_ID:1582651 11674581 FZD3 frizzled class receptor 3 gene DOID:630 genetic disease ISO RGD:732935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674581 FZD3 frizzled class receptor 3 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:732935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:31474318 11674581 FZD3 frizzled class receptor 3 gene DOID:9256 colorectal cancer ISO RGD:732935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 11674594 PLCL1 phospholipase C like 1 (inactive) gene DOID:630 genetic disease ISO RGD:733121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674594 PLCL1 phospholipase C like 1 (inactive) gene DOID:9001586 Experimental Liver Neoplasms disease_progression ISO RGD:708420 D RGD:9068941 20220707 RGD mRNA:increased expression:liver (rat) PMID:19533683|REF_RGD_ID:2315050 11674594 PLCL1 phospholipase C like 1 (inactive) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11674604 ARHGEF10L Rho guanine nucleotide exchange factor 10 like gene DOID:0050933 ovarian serous carcinoma susceptibility ISO RGD:1605662 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs10788679(human) PMID:29979793|REF_RGD_ID:14348955 11674604 ARHGEF10L Rho guanine nucleotide exchange factor 10 like gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1605662 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11674604 ARHGEF10L Rho guanine nucleotide exchange factor 10 like gene DOID:3307 teratoma ISO RGD:1605662 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 11674604 ARHGEF10L Rho guanine nucleotide exchange factor 10 like gene DOID:6212 ovarian endometrial cancer susceptibility ISO RGD:1605662 D RGD:9068941 20200609 RGD DNA:SNP: :rs2256787(human) PMID:29979793|REF_RGD_ID:14348955 11674604 ARHGEF10L Rho guanine nucleotide exchange factor 10 like gene DOID:630 genetic disease ISO RGD:1605662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674604 ARHGEF10L Rho guanine nucleotide exchange factor 10 like gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1605662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 11674676 SYS1 SYS1 golgi trafficking protein gene DOID:2234 focal epilepsy ISO RGD:1602841 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11674676 SYS1 SYS1 golgi trafficking protein gene DOID:2377 multiple sclerosis ISO RGD:1602841 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 11674676 SYS1 SYS1 golgi trafficking protein gene DOID:630 genetic disease ISO RGD:1602841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674676 SYS1 SYS1 golgi trafficking protein gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1602841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11674684 TSPAN17 tetraspanin 17 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1346680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11674684 TSPAN17 tetraspanin 17 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1346680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11674684 TSPAN17 tetraspanin 17 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1346680 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11674684 TSPAN17 tetraspanin 17 gene DOID:630 genetic disease ISO RGD:1346680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674684 TSPAN17 tetraspanin 17 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1346680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11674684 TSPAN17 tetraspanin 17 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1346680 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 11674712 MARK1 microtubule affinity regulating kinase 1 gene DOID:0050439 Usher syndrome ISO RGD:732241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 11674712 MARK1 microtubule affinity regulating kinase 1 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:732241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 11674712 MARK1 microtubule affinity regulating kinase 1 gene DOID:12849 autistic disorder ISO RGD:732241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18492799 11674712 MARK1 microtubule affinity regulating kinase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:732241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11674712 MARK1 microtubule affinity regulating kinase 1 gene DOID:630 genetic disease ISO RGD:732241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674712 MARK1 microtubule affinity regulating kinase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:732241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11674712 MARK1 microtubule affinity regulating kinase 1 gene DOID:9006949 Martsolf Syndrome ISO RGD:732241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 11674712 MARK1 microtubule affinity regulating kinase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11674743 ASZ1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 gene DOID:4450 renal cell carcinoma ISO RGD:1348719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:28492532 11674743 ASZ1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11674743 ASZ1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 gene DOID:630 genetic disease ISO RGD:1348719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674743 ASZ1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11674743 ASZ1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1348719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:28492532 11674764 TMEM120B transmembrane protein 120B gene DOID:630 genetic disease ISO RGD:1626589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674779 GPR174 G protein-coupled receptor 174 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11674779 GPR174 G protein-coupled receptor 174 gene DOID:12849 autistic disorder ISO RGD:1345699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11674779 GPR174 G protein-coupled receptor 174 gene DOID:630 genetic disease ISO RGD:1345699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674784 DMAC1 distal membrane arm assembly component 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1319327 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:0050156 idiopathic pulmonary fibrosis exacerbates ISO RGD:1602894 D RGD:9068941 20210910 RGD associated with lung squamous cell carcinoma; DNA:mutations:multiple (human) PMID:33533494|REF_RGD_ID:150429642 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:1602894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:0070338 cerebellar hypoplasia ISO RGD:1602894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:29276005|PMID:31474318|PMID:32710489 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1602894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:0080794 childhood acute megakaryoblastic leukemia ISO RGD:1602894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia without down syndrome PMID:27993330 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:10534 stomach cancer exacerbates ISO RGD:1602894 D RGD:9068941 20210910 RGD mRNA:decreased expression:stomach (human) PMID:29522714|REF_RGD_ID:150429638 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:1059 intellectual disability ISO RGD:1602894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:10908 hydrocephalus ISO RGD:1602894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:31474318 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:1240 leukemia ISO RGD:1602894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24509477 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:12849 autistic disorder ISO RGD:1602894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:25741868|PMID:28492532 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:1790 malignant mesothelioma ISO RGD:1602894 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:1790 malignant mesothelioma ISO RGD:1602894 D RGD:9068941 20210910 RGD DNA:mutations:multiple (human) PMID:27834213|REF_RGD_ID:150429641 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:1826 epilepsy ISO RGD:1602894 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:2785 Dandy-Walker syndrome ISO RGD:1602894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:31474318 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:1602894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29376028 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:3307 teratoma ISO RGD:1602894 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:3571 liver cancer ISO RGD:1602894 D RGD:9068941 20210910 RGD protein:decreased expression:liver (human) PMID:26172293|REF_RGD_ID:11530741 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1602894 D RGD:9068941 20210910 RGD human cells and genes in mouse model PMID:33223508|REF_RGD_ID:150429633 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1602894 D RGD:9068941 20210910 RGD DNA:mutations:multiple (human) PMID:27687306|REF_RGD_ID:150429649 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1621311 D RGD:9068941 20210910 RGD PMID:28202515|REF_RGD_ID:126848875 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:3910 lung adenocarcinoma severity ISO RGD:1602894 D RGD:9068941 20210910 RGD PMID:33707235|REF_RGD_ID:150429648 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:4450 renal cell carcinoma ISO RGD:1602894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691|PMID:23797736 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1602894 D RGD:9068941 20210910 RGD DNA:SNPs,loss of heterozygosity:multiple (human) PMID:26864202|REF_RGD_ID:150429635 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:4467 clear cell renal cell carcinoma severity ISO RGD:1602894 D RGD:9068941 20210910 RGD DNA:mutations:multiple (human) PMID:26891804|REF_RGD_ID:150429640 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1602894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20864444|PMID:22495309|PMID:23160955|PMID:24267886|PMID:24728327|PMID:24852293|PMID:24901346|PMID:25574603|PMID:25741868|PMID:26084711|PMID:26580448|PMID:27317772|PMID:28424246|PMID:28492532|PMID:29276005|PMID:29681085|PMID:30419952|PMID:31474318|PMID:32710489|PMID:33004838 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:7474 malignant pleural mesothelioma ISO RGD:1602894 D RGD:9068941 20210910 RGD DNA:mutations:CDS:multiple (human) PMID:26928227|REF_RGD_ID:150429647 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:1602894 D RGD:9068941 20211105 RGD PMID:33691361|REF_RGD_ID:150520202 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9000027 Microsatellite Instability ISO RGD:1602894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1602894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum agenesis PMID:25741868|PMID:29276005|PMID:31474318|PMID:32710489 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1602894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1602894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9003745 Enteropathy-Associated T-Cell Lymphoma ISO RGD:1602894 D RGD:9068941 20210910 RGD DNA:mutations:multiple (human) PMID:27600764|REF_RGD_ID:150429643 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9004240 Phyllodes Tumor ISO RGD:1602894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9006951 Autosomal Dominant Intellectual Developmental Disorder 70 ISO RGD:1602894 D RGD:7240710 20221221 OMIM 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9006951 Autosomal Dominant Intellectual Developmental Disorder 70 ISO RGD:1602894 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70 PMID:32710489 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9008051 Luscan-Lumish Syndrome ISO RGD:1602894 D RGD:7240710 20190315 OMIM 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9008051 Luscan-Lumish Syndrome ISO RGD:1602894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Luscan-Lumish syndrome | ClinVar Annotator: match by term: Luscan-lumish syndrome PMID:17576681|PMID:20864444|PMID:22495309|PMID:23160955|PMID:24267886|PMID:24728327|PMID:24852293|PMID:24901346|PMID:25574603|PMID:25741868|PMID:26084711|PMID:26467025|PMID:26580448|PMID:27317772|PMID:27455002|PMID:28166811|PMID:28424246|PMID:28492532|PMID:28577310|PMID:29276005|PMID:29681085|PMID:30419952|PMID:31474318|PMID:32668055|PMID:32710489|PMID:33004838|PMID:9536098 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9008939 Breast Neoplasms ISO RGD:1602894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9009131 Ventriculomegaly ISO RGD:1602894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:31474318 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9253 gastrointestinal stromal tumor exacerbates ISO RGD:1602894 D RGD:9068941 20210910 RGD DNA:mutations:multiple (human) PMID:26338826|REF_RGD_ID:150429637 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9256 colorectal cancer ISO RGD:1602894 D RGD:9068941 20210910 RGD DNA:frameshift mutation:exon 3:c.4219delA (human) PMID:24925220|REF_RGD_ID:150429646 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9256 colorectal cancer ISO RGD:1602894 D RGD:9068941 20210910 RGD mRNA:decreased expression:colon (human) PMID:26069251|REF_RGD_ID:150429645 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9256 colorectal cancer exacerbates ISO RGD:10166 D RGD:9068941 20210910 RGD PMID:28825595|REF_RGD_ID:150429636 11674832 PARD3B par-3 family cell polarity regulator beta gene DOID:14557 primary pulmonary hypertension ISO RGD:1312545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11674832 PARD3B par-3 family cell polarity regulator beta gene DOID:5419 schizophrenia ISO RGD:1312545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11674832 PARD3B par-3 family cell polarity regulator beta gene DOID:630 genetic disease ISO RGD:1312545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674832 PARD3B par-3 family cell polarity regulator beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11674860 ARF4 ADP ribosylation factor 4 gene DOID:630 genetic disease ISO RGD:1352328 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674860 ARF4 ADP ribosylation factor 4 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1352328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 11674870 PDK3 pyruvate dehydrogenase kinase 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11674870 PDK3 pyruvate dehydrogenase kinase 3 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1343163 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:19439424|PMID:19738637|PMID:24643514|PMID:26337422|PMID:28492532 11674870 PDK3 pyruvate dehydrogenase kinase 3 gene DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 ISO RGD:1343163 D RGD:7240710 20180130 OMIM 11674870 PDK3 pyruvate dehydrogenase kinase 3 gene DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 ISO RGD:1343163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 6 PMID:16199547|PMID:17576681|PMID:23297365|PMID:25741868|PMID:26801680|PMID:27388934|PMID:28106320|PMID:28492532|PMID:32504000|PMID:34387338|PMID:9536098 11674870 PDK3 pyruvate dehydrogenase kinase 3 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1343163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:28492532 11674870 PDK3 pyruvate dehydrogenase kinase 3 gene DOID:12849 autistic disorder ISO RGD:1343163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11674870 PDK3 pyruvate dehydrogenase kinase 3 gene DOID:630 genetic disease ISO RGD:1343163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23297365|PMID:25741868|PMID:26801680|PMID:27388934|PMID:28106320|PMID:28492532|PMID:32504000|PMID:34387338 11674870 PDK3 pyruvate dehydrogenase kinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11674886 MEGF10 multiple EGF like domains 10 gene DOID:0080000 muscular disease ISO RGD:1601732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22101682 11674886 MEGF10 multiple EGF like domains 10 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601732 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11674886 MEGF10 multiple EGF like domains 10 gene DOID:0111333 early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome ISO RGD:1601732 D RGD:7240710 20180130 OMIM 11674886 MEGF10 multiple EGF like domains 10 gene DOID:0111333 early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome ISO RGD:1601732 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 10A, SEVERE VARIANT | ClinVar Annotator: match by term: CONGENITAL MYOPATHY 10B, MILD VARIANT | ClinVar Annotator: match by term: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset PMID:16199547|PMID:17236770|PMID:17576681|PMID:22101682|PMID:22371254|PMID:23453856|PMID:23954233|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26802438|PMID:27460346|PMID:28492532|PMID:28498977|PMID:29128256|PMID:31127727|PMID:31501239|PMID:36349186|PMID:9536098 11674886 MEGF10 multiple EGF like domains 10 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:1601732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22101682 11674886 MEGF10 multiple EGF like domains 10 gene DOID:630 genetic disease ISO RGD:1601732 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11674886 MEGF10 multiple EGF like domains 10 gene DOID:9000123 Deglutition Disorders ISO RGD:1601732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22101682 11674886 MEGF10 multiple EGF like domains 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11674886 MEGF10 multiple EGF like domains 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601732 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11674939 ARL13B ADP ribosylation factor like GTPase 13B gene DOID:0050777 Joubert syndrome ISO RGD:1349356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:18674751|PMID:23153492|PMID:24033266|PMID:25741868|PMID:27153923|PMID:28492532|PMID:31846650 11674939 ARL13B ADP ribosylation factor like GTPase 13B gene DOID:0080074 neural tube defect ISO RGD:1557633 D RGD:9068941 20200609 RGD DNA:transversion:intron:IVS2+2T>G (mouse) PMID:17488627|REF_RGD_ID:11553935 11674939 ARL13B ADP ribosylation factor like GTPase 13B gene DOID:0110980 Joubert syndrome 1 ISO RGD:1349356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 1 PMID:25741868|PMID:28492532 11674939 ARL13B ADP ribosylation factor like GTPase 13B gene DOID:0111003 Joubert syndrome 8 ISO RGD:1349356 D RGD:7240710 20180130 OMIM 11674939 ARL13B ADP ribosylation factor like GTPase 13B gene DOID:0111003 Joubert syndrome 8 ISO RGD:1349356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 8 PMID:16199547|PMID:17576681|PMID:18674751|PMID:24033266|PMID:25138100|PMID:25741868|PMID:26092869|PMID:26132555|PMID:28492532|PMID:28787594|PMID:29255182|PMID:9536098 11674939 ARL13B ADP ribosylation factor like GTPase 13B gene DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency ISO RGD:1349356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive PMID:16363235|PMID:22627709|PMID:28492532|PMID:9241758 11674939 ARL13B ADP ribosylation factor like GTPase 13B gene DOID:2451 protein S deficiency ISO RGD:1349356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Protein S deficiency disease PMID:32581362 11674939 ARL13B ADP ribosylation factor like GTPase 13B gene DOID:2843 long QT syndrome ISO RGD:1349356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555|PMID:28492532 11674939 ARL13B ADP ribosylation factor like GTPase 13B gene DOID:2975 cystic kidney disease ISO RGD:1557633 D RGD:9068941 20200609 RGD PMID:27153923|REF_RGD_ID:11553938 11674939 ARL13B ADP ribosylation factor like GTPase 13B gene DOID:630 genetic disease ISO RGD:1349356 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25138100|PMID:25741868|PMID:28492532|PMID:28787594 11674939 ARL13B ADP ribosylation factor like GTPase 13B gene DOID:9970 obesity ISO RGD:1557633 D RGD:9068941 20200609 RGD protein:decreased expression:hypothalamus, cilium (mouse) PMID:22581473|REF_RGD_ID:11553936 11674959 ATG10 autophagy related 10 gene DOID:630 genetic disease ISO RGD:1351458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674959 ATG10 autophagy related 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11674959 ATG10 autophagy related 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1351458 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 11674978 ACSM6 acyl-CoA synthetase medium chain family member 6 gene DOID:630 genetic disease ISO RGD:1344514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11674993 GCKR glucokinase regulator gene DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly ISO RGD:69130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly PMID:28492532 11674993 GCKR glucokinase regulator gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:69130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11674993 GCKR glucokinase regulator gene DOID:630 genetic disease ISO RGD:69130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11674993 GCKR glucokinase regulator gene DOID:783 end stage renal disease ISO RGD:69130 D RGD:9068941 20200609 RGD DNA: snp: rs1260326 PMID:21980298|REF_RGD_ID:7242279 11674993 GCKR glucokinase regulator gene DOID:9006599 Hypertriglyceridemia ISO RGD:69130 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia PMID:22182842|PMID:25741868|PMID:28492532 11674993 GCKR glucokinase regulator gene DOID:9006646 Metabolic Syndrome ISO RGD:69130 D RGD:9068941 20200609 RGD PMID:19861489|REF_RGD_ID:7242423 11674993 GCKR glucokinase regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:69130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20081858 11674993 GCKR glucokinase regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:69130 D RGD:9068941 20200609 RGD PMID:11473043|PMID:21411509|REF_RGD_ID:2315986|REF_RGD_ID:7242280 11674993 GCKR glucokinase regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:69130 D RGD:9068941 20200609 RGD DNA:SNP::rs1260326(human) PMID:18556336|REF_RGD_ID:2315985 11674993 GCKR glucokinase regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:69130 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs780094 (human) PMID:19241058|REF_RGD_ID:2315983 11674993 GCKR glucokinase regulator gene DOID:9970 obesity no_association ISO RGD:69130 D RGD:9068941 20200609 RGD DNA:mutations:CDS:no association with mutations P446L, R590Y, R227X or R518Q in obese French patients despite localization of gene within a QTL for obesity-related phenotypes PMID:12739015|REF_RGD_ID:1626607 11675016 TSHZ3 teashirt zinc finger homeobox 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1314877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27668656 11675016 TSHZ3 teashirt zinc finger homeobox 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1314878 D RGD:9068941 20220825 MouseDO 11675016 TSHZ3 teashirt zinc finger homeobox 3 gene DOID:10283 prostate cancer ISO RGD:1314877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11675016 TSHZ3 teashirt zinc finger homeobox 3 gene DOID:630 genetic disease ISO RGD:1314877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675016 TSHZ3 teashirt zinc finger homeobox 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11675026 FRS2 fibroblast growth factor receptor substrate 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1317842 D RGD:9068941 20200609 RGD PMID:25900027|REF_RGD_ID:11352663 11675026 FRS2 fibroblast growth factor receptor substrate 2 gene DOID:630 genetic disease ISO RGD:1317842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675046 ADM2 adrenomedullin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1348112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 11675046 ADM2 adrenomedullin 2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1348112 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 11675046 ADM2 adrenomedullin 2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1348112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11675046 ADM2 adrenomedullin 2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1348112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 11675046 ADM2 adrenomedullin 2 gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1348112 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 11675046 ADM2 adrenomedullin 2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1348112 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 11675046 ADM2 adrenomedullin 2 gene DOID:1059 intellectual disability ISO RGD:1348112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11675046 ADM2 adrenomedullin 2 gene DOID:178 vascular disease ISO RGD:1348112 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19910445 11675046 ADM2 adrenomedullin 2 gene DOID:630 genetic disease ISO RGD:1348112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675046 ADM2 adrenomedullin 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1348112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16987513 11675052 SPRR4 small proline rich protein 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1350265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11675052 SPRR4 small proline rich protein 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1350265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11675052 SPRR4 small proline rich protein 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1350265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11675052 SPRR4 small proline rich protein 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1350265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11675052 SPRR4 small proline rich protein 4 gene DOID:5812 MHC class II deficiency ISO RGD:1350265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11675052 SPRR4 small proline rich protein 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11675058 PATL1 PAT1 homolog 1, processing body mRNA decay factor gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606423 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11675058 PATL1 PAT1 homolog 1, processing body mRNA decay factor gene DOID:1059 intellectual disability ISO RGD:1606423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11675058 PATL1 PAT1 homolog 1, processing body mRNA decay factor gene DOID:630 genetic disease ISO RGD:1606423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675085 MAPK15 mitogen-activated protein kinase 15 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1604966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11675085 MAPK15 mitogen-activated protein kinase 15 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1604966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11675085 MAPK15 mitogen-activated protein kinase 15 gene DOID:11054 urinary bladder cancer ISO RGD:1604966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 11675085 MAPK15 mitogen-activated protein kinase 15 gene DOID:1612 breast cancer disease_progression ISO RGD:1604966 D RGD:9068941 20200609 RGD protein:decreased expression:tumor (human) PMID:12917323|REF_RGD_ID:2304230 11675085 MAPK15 mitogen-activated protein kinase 15 gene DOID:4621 holoprosencephaly ISO RGD:1604966 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11675085 MAPK15 mitogen-activated protein kinase 15 gene DOID:630 genetic disease ISO RGD:1604966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675117 KIRREL3 kirre like nephrin family adhesion molecule 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1322814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11675117 KIRREL3 kirre like nephrin family adhesion molecule 3 gene DOID:0070034 autosomal dominant intellectual developmental disorder 4 ISO RGD:1322814 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 4 PMID:19012874|PMID:25741868 11675117 KIRREL3 kirre like nephrin family adhesion molecule 3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1322814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11675117 KIRREL3 kirre like nephrin family adhesion molecule 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1322814 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868 11675117 KIRREL3 kirre like nephrin family adhesion molecule 3 gene DOID:1059 intellectual disability ISO RGD:1322814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11675117 KIRREL3 kirre like nephrin family adhesion molecule 3 gene DOID:5419 schizophrenia ISO RGD:1322814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11675117 KIRREL3 kirre like nephrin family adhesion molecule 3 gene DOID:630 genetic disease ISO RGD:1322814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213 11675117 KIRREL3 kirre like nephrin family adhesion molecule 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11675117 KIRREL3 kirre like nephrin family adhesion molecule 3 gene DOID:9007661 Dwarfism ISO RGD:1322814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11675117 KIRREL3 kirre like nephrin family adhesion molecule 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1322814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11675117 KIRREL3 kirre like nephrin family adhesion molecule 3 gene DOID:9008582 Developmental Disease ISO RGD:1322814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11675148 PRKCE protein kinase C epsilon gene DOID:0050700 cardiomyopathy ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15242976 11675148 PRKCE protein kinase C epsilon gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29341352 11675148 PRKCE protein kinase C epsilon gene DOID:10763 hypertension ISO RGD:61925 D RGD:9068941 20200609 RGD PMID:15792354|REF_RGD_ID:1581271 11675148 PRKCE protein kinase C epsilon gene DOID:303 substance-related disorder ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11675148 PRKCE protein kinase C epsilon gene DOID:3883 Lynch syndrome ISO RGD:736442 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11675148 PRKCE protein kinase C epsilon gene DOID:4248 coronary stenosis ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16782078 11675148 PRKCE protein kinase C epsilon gene DOID:574 peripheral nervous system disease ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20726883 11675148 PRKCE protein kinase C epsilon gene DOID:5844 myocardial infarction ISO RGD:62218 D RGD:9068941 20230202 RGD RNA:decreased expression:myocardium: PMID:28887629|REF_RGD_ID:155882580 11675148 PRKCE protein kinase C epsilon gene DOID:5844 myocardial infarction ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16782078 11675148 PRKCE protein kinase C epsilon gene DOID:630 genetic disease ISO RGD:736442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675148 PRKCE protein kinase C epsilon gene DOID:9002165 Diabetic Nephropathies ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20665664 11675148 PRKCE protein kinase C epsilon gene DOID:9002211 Hyperalgesia ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11738263|PMID:12582831|PMID:20457222 11675148 PRKCE protein kinase C epsilon gene DOID:9003936 Cardiomegaly ISO RGD:61925 D RGD:9068941 20200609 RGD PMID:15792354|REF_RGD_ID:1581271 11675148 PRKCE protein kinase C epsilon gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12198386 11675148 PRKCE protein kinase C epsilon gene DOID:9007102 Myocardial Ischemia ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11675148 PRKCE protein kinase C epsilon gene DOID:9007188 Liver Neoplasms ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11675148 PRKCE protein kinase C epsilon gene DOID:9008443 Colorectal Neoplasms ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7705931 11675148 PRKCE protein kinase C epsilon gene DOID:9352 type 2 diabetes mellitus ISO RGD:61925 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver: PMID:26398746|REF_RGD_ID:13506804 11675173 TMED1 transmembrane p24 trafficking protein 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1354453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11675173 TMED1 transmembrane p24 trafficking protein 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1354453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11675173 TMED1 transmembrane p24 trafficking protein 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1354453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11675173 TMED1 transmembrane p24 trafficking protein 1 gene DOID:13810 familial hypercholesterolemia ISO RGD:1354453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:28492532 11675173 TMED1 transmembrane p24 trafficking protein 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1354453 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11675173 TMED1 transmembrane p24 trafficking protein 1 gene DOID:630 genetic disease ISO RGD:1354453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675187 LOC100976163 polyadenylate-binding protein 1-like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1642212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11675187 LOC100976163 polyadenylate-binding protein 1-like 2 gene DOID:0080509 Cornelia de Lange syndrome 5 ISO RGD:1642212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 PMID:24403048 11675187 LOC100976163 polyadenylate-binding protein 1-like 2 gene DOID:12849 autistic disorder ISO RGD:1642212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11675195 MUC4 mucin 4, cell surface associated gene DOID:0050625 biliary tract benign neoplasm ISO RGD:735893 D RGD:9068941 20200609 RGD protein:increased expression:bile,biliary tract PMID:18475301|REF_RGD_ID:2324916 11675195 MUC4 mucin 4, cell surface associated gene DOID:0080178 mucositis ISO RGD:621331 D RGD:9068941 20200609 RGD protein:decreased expression:intestine PMID:18998135|REF_RGD_ID:2303603 11675195 MUC4 mucin 4, cell surface associated gene DOID:0080599 Coronavirus infectious disease ISO RGD:735894 D RGD:9068941 20220825 MouseDO 11675195 MUC4 mucin 4, cell surface associated gene DOID:10754 otitis media ISO RGD:621331 D RGD:9068941 20200609 RGD associated with Pneumococcal Infections;mRNA:increased expression:middle ear PMID:11576628|REF_RGD_ID:2303743 11675195 MUC4 mucin 4, cell surface associated gene DOID:10754 otitis media ISO RGD:735893 D RGD:9068941 20200609 RGD mRNA:increased expression:middle ear PMID:14690056|REF_RGD_ID:7349395 11675195 MUC4 mucin 4, cell surface associated gene DOID:11204 allergic conjunctivitis ISO RGD:735894 D RGD:9068941 20200609 RGD PMID:11581187|REF_RGD_ID:7349400 11675195 MUC4 mucin 4, cell surface associated gene DOID:11204 allergic conjunctivitis severity ISO RGD:735893 D RGD:9068941 20200609 RGD PMID:17177679|REF_RGD_ID:7349351 11675195 MUC4 mucin 4, cell surface associated gene DOID:11382 corneal neovascularization ISO RGD:621331 D RGD:9068941 20200609 RGD PMID:17169838|REF_RGD_ID:7349391 11675195 MUC4 mucin 4, cell surface associated gene DOID:12895 keratoconjunctivitis sicca ISO RGD:731951 D RGD:9068941 20200609 RGD PMID:14507865|REF_RGD_ID:7349377 11675195 MUC4 mucin 4, cell surface associated gene DOID:1324 lung cancer ISO RGD:735893 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 11675195 MUC4 mucin 4, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:735893 D RGD:9068941 20200609 RGD PMID:17595659|REF_RGD_ID:2324922 11675195 MUC4 mucin 4, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:735893 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:11751498|REF_RGD_ID:2324891 11675195 MUC4 mucin 4, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:735893 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell PMID:16274046|REF_RGD_ID:2324931 11675195 MUC4 mucin 4, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:735893 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:20303649|REF_RGD_ID:2324914 11675195 MUC4 mucin 4, cell surface associated gene DOID:1793 pancreatic cancer disease_progression ISO RGD:735893 D RGD:9068941 20200609 RGD PMID:17406026|REF_RGD_ID:2324923 11675195 MUC4 mucin 4, cell surface associated gene DOID:3030 mucinous adenocarcinoma severity ISO RGD:735893 D RGD:9068941 20200609 RGD associated with pancreatic disease;protein:increased expression:pancreas PMID:17079945|REF_RGD_ID:2324927 11675195 MUC4 mucin 4, cell surface associated gene DOID:3587 pancreatic ductal carcinoma ISO RGD:735893 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:12657964|REF_RGD_ID:2324946 11675195 MUC4 mucin 4, cell surface associated gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:735893 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:16049287|REF_RGD_ID:2324942 11675195 MUC4 mucin 4, cell surface associated gene DOID:3905 lung carcinoma ISO RGD:735893 D RGD:9068941 20200609 RGD protein:altered expression:lung PMID:11596032|REF_RGD_ID:5131258 11675195 MUC4 mucin 4, cell surface associated gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:735893 D RGD:9068941 20200609 RGD protein:increased expression:trachea PMID:17126950|REF_RGD_ID:5131208 11675195 MUC4 mucin 4, cell surface associated gene DOID:4450 renal cell carcinoma ISO RGD:735893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 11675195 MUC4 mucin 4, cell surface associated gene DOID:4608 common bile duct neoplasm ISO RGD:735893 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:8143972|REF_RGD_ID:2324890 11675195 MUC4 mucin 4, cell surface associated gene DOID:4947 cholangiocarcinoma ISO RGD:621331 D RGD:9068941 20200609 RGD PMID:19082442|REF_RGD_ID:2303602 11675195 MUC4 mucin 4, cell surface associated gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:735893 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:14752841|REF_RGD_ID:2324944 11675195 MUC4 mucin 4, cell surface associated gene DOID:5409 lung small cell carcinoma ISO RGD:735893 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 11675195 MUC4 mucin 4, cell surface associated gene DOID:684 hepatocellular carcinoma ISO RGD:735893 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 11675195 MUC4 mucin 4, cell surface associated gene DOID:9000011 Gallbladder Neoplasms ISO RGD:735893 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:gallbladder PMID:18397823|REF_RGD_ID:2324921 11675195 MUC4 mucin 4, cell surface associated gene DOID:9000965 Neoplasm Metastasis ISO RGD:621331 D RGD:9068941 20200609 RGD associated with Melanoma PMID:10918186|REF_RGD_ID:2303746 11675195 MUC4 mucin 4, cell surface associated gene DOID:9002159 Liver Reperfusion Injury ISO RGD:621331 D RGD:9068941 20200609 RGD mRNA:decreased expression:bile duct PMID:21775928|REF_RGD_ID:7364757 11675195 MUC4 mucin 4, cell surface associated gene DOID:9002231 Fetal Growth Retardation ISO RGD:621331 D RGD:9068941 20200609 RGD PMID:19287349|REF_RGD_ID:7349369 11675195 MUC4 mucin 4, cell surface associated gene DOID:9002304 Prostatic Neoplasms ISO RGD:735893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11675195 MUC4 mucin 4, cell surface associated gene DOID:9002936 Bile Duct Neoplasms disease_progression ISO RGD:735893 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:16857800|REF_RGD_ID:2324929 11675195 MUC4 mucin 4, cell surface associated gene DOID:9002992 Nematode Infections ISO RGD:621331 D RGD:9068941 20200609 RGD mRNA:increased expression:intestine PMID:16689826|REF_RGD_ID:2303607 11675195 MUC4 mucin 4, cell surface associated gene DOID:9002992 Nematode Infections ISO RGD:735894 D RGD:9068941 20200609 RGD protein:increased expression:cecum, glycocalyx PMID:21155842|REF_RGD_ID:7364766 11675195 MUC4 mucin 4, cell surface associated gene DOID:9003281 Spontaneous Abortions ISO RGD:735893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11675195 MUC4 mucin 4, cell surface associated gene DOID:9004283 Transplant Rejection ISO RGD:621331 D RGD:9068941 20200609 RGD PMID:12717211|REF_RGD_ID:7349372 11675201 ESR1 estrogen receptor 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30165855 11675201 ESR1 estrogen receptor 1 gene DOID:0050753 cerebellar ataxia ISO RGD:736559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia 11675201 ESR1 estrogen receptor 1 gene DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 ISO RGD:736559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:25741868|PMID:26467025|PMID:28492532 11675201 ESR1 estrogen receptor 1 gene DOID:0080001 bone disease ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28505433 11675201 ESR1 estrogen receptor 1 gene DOID:0080855 Parkinsonism ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:21420980|REF_RGD_ID:8553241 11675201 ESR1 estrogen receptor 1 gene DOID:0080979 arthrogryposis multiplex congenita-3 ISO RGD:736559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 3, myogenic type PMID:25741868|PMID:27782104 11675201 ESR1 estrogen receptor 1 gene DOID:0110264 cataract 33 ISO RGD:10551 D RGD:9068941 20200609 RGD PMID:12082175|REF_RGD_ID:734947 11675201 ESR1 estrogen receptor 1 gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:736559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:25741868|PMID:26467025|PMID:27782104|PMID:28492532 11675201 ESR1 estrogen receptor 1 gene DOID:10247 pleurisy ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:17035596|REF_RGD_ID:4892303 11675201 ESR1 estrogen receptor 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:736559 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:17908481|REF_RGD_ID:2290023 11675201 ESR1 estrogen receptor 1 gene DOID:10283 prostate cancer severity ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:17922863|REF_RGD_ID:2290022 11675201 ESR1 estrogen receptor 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:repeat PMID:18006911|REF_RGD_ID:2290020 11675201 ESR1 estrogen receptor 1 gene DOID:10652 Alzheimer's disease ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17192785 11675201 ESR1 estrogen receptor 1 gene DOID:10652 Alzheimer's disease ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:10558867|REF_RGD_ID:1358612 11675201 ESR1 estrogen receptor 1 gene DOID:11054 urinary bladder cancer ISO RGD:736559 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:16712894|PMID:35764155 11675201 ESR1 estrogen receptor 1 gene DOID:11132 prostatic hypertrophy treatment ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:24872436|REF_RGD_ID:10045676 11675201 ESR1 estrogen receptor 1 gene DOID:11383 cryptorchidism ISO RGD:2581 D RGD:9068941 20200609 RGD mRNA:decreased expression:testis PMID:20951417|REF_RGD_ID:8553220 11675201 ESR1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:10551 D RGD:9068941 20200609 RGD PMID:21421090|REF_RGD_ID:10045841 11675201 ESR1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:10773580|REF_RGD_ID:10045834 11675201 ESR1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:intron:g.938C>T (human) PMID:16530497|REF_RGD_ID:10045825 11675201 ESR1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:exon:2014G>A (human) PMID:17953702|REF_RGD_ID:10045839 11675201 ESR1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:intron:397T>C (human) PMID:23137636|REF_RGD_ID:10045665 11675201 ESR1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNPs:intron: (rs2234693, rs9340799) (human) PMID:20116372|REF_RGD_ID:10045826 11675201 ESR1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:repeat:intron:IVS5+225(CA)18-25 (human) PMID:17896124|REF_RGD_ID:10045828 11675201 ESR1 estrogen receptor 1 gene DOID:11476 osteoporosis no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:repeat:5' utr:g.-1174(TA)10-27 (human) PMID:17953702|REF_RGD_ID:10045839 11675201 ESR1 estrogen receptor 1 gene DOID:11476 osteoporosis treatment ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:16955786|REF_RGD_ID:8694129 11675201 ESR1 estrogen receptor 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:736559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 11675201 ESR1 estrogen receptor 1 gene DOID:12306 vitiligo no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:exon PMID:15381239|REF_RGD_ID:8552976 11675201 ESR1 estrogen receptor 1 gene DOID:12306 vitiligo susceptibility ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:intron PMID:15381239|REF_RGD_ID:8552976 11675201 ESR1 estrogen receptor 1 gene DOID:12336 male infertility ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20833731|PMID:23213263 11675201 ESR1 estrogen receptor 1 gene DOID:1240 leukemia ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18808365 11675201 ESR1 estrogen receptor 1 gene DOID:127 leiomyoma ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18701604|PMID:31468104 11675201 ESR1 estrogen receptor 1 gene DOID:14228 oligospermia ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20833731 11675201 ESR1 estrogen receptor 1 gene DOID:1612 breast cancer ISO RGD:736559 D RGD:7240710 20230517 OMIM 11675201 ESR1 estrogen receptor 1 gene DOID:1612 breast cancer disease_progression ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:amplification PMID:19320640|REF_RGD_ID:8552981 11675201 ESR1 estrogen receptor 1 gene DOID:1612 breast cancer no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP: :908A>G (p.K303R) (human) PMID:15034868|REF_RGD_ID:8553053 11675201 ESR1 estrogen receptor 1 gene DOID:1612 breast cancer no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2234693, rs9340799 (human) PMID:20846920|REF_RGD_ID:8552980 11675201 ESR1 estrogen receptor 1 gene DOID:1612 breast cancer susceptibility ISO RGD:736559 D RGD:9068941 20230518 RGD DNA:SNP:exon:2014G>A (human) PMID:19636371|REF_RGD_ID:8552982 11675201 ESR1 estrogen receptor 1 gene DOID:1612 breast cancer susceptibility ISO RGD:736559 D RGD:9068941 20230518 RGD DNA:SNPs, haplotypes:promoter, exon PMID:15604249|REF_RGD_ID:8552978 11675201 ESR1 estrogen receptor 1 gene DOID:1612 breast cancer treatment ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:19011961|REF_RGD_ID:8552979 11675201 ESR1 estrogen receptor 1 gene DOID:1909 melanoma severity ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:19153340|REF_RGD_ID:8553064 11675201 ESR1 estrogen receptor 1 gene DOID:1936 atherosclerosis ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11894143 11675201 ESR1 estrogen receptor 1 gene DOID:1936 atherosclerosis treatment ISO RGD:10551 D RGD:9068941 20200609 RGD PMID:11160157|REF_RGD_ID:8553067 11675201 ESR1 estrogen receptor 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:24548484|PMID:25098259|REF_RGD_ID:10045843|REF_RGD_ID:10045845 11675201 ESR1 estrogen receptor 1 gene DOID:2349 arteriosclerosis ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:17903303|REF_RGD_ID:4892301 11675201 ESR1 estrogen receptor 1 gene DOID:2394 ovarian cancer ISO RGD:2581 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental;protein:decreased expression:ovary, breast PMID:16891317|REF_RGD_ID:2290042 11675201 ESR1 estrogen receptor 1 gene DOID:2696 Leydig cell tumor ISO RGD:736559 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:17656605|REF_RGD_ID:2290041 11675201 ESR1 estrogen receptor 1 gene DOID:289 endometriosis ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:16500359|REF_RGD_ID:1580337 11675201 ESR1 estrogen receptor 1 gene DOID:2921 glomerulonephritis ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20962747 11675201 ESR1 estrogen receptor 1 gene DOID:299 adenocarcinoma ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15639718|PMID:20458558 11675201 ESR1 estrogen receptor 1 gene DOID:305 carcinoma ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15637090|PMID:17173897 11675201 ESR1 estrogen receptor 1 gene DOID:3069 malignant astrocytoma ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24680642 11675201 ESR1 estrogen receptor 1 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:18285421|REF_RGD_ID:4892300 11675201 ESR1 estrogen receptor 1 gene DOID:3393 coronary artery disease ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20559769|PMID:9396482 11675201 ESR1 estrogen receptor 1 gene DOID:3393 coronary artery disease ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:16159931|REF_RGD_ID:1580335 11675201 ESR1 estrogen receptor 1 gene DOID:3459 breast carcinoma disease_progression ISO RGD:736559 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation PMID:15355923|REF_RGD_ID:8552986 11675201 ESR1 estrogen receptor 1 gene DOID:3459 breast carcinoma severity ISO RGD:736559 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:breast PMID:18234277|REF_RGD_ID:2290017 11675201 ESR1 estrogen receptor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:hypermethylation: :lung PMID:19506903|REF_RGD_ID:4892255 11675201 ESR1 estrogen receptor 1 gene DOID:418 systemic scleroderma susceptibility ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:intron: PMID:19032828|REF_RGD_ID:8553058 11675201 ESR1 estrogen receptor 1 gene DOID:4448 macular degeneration ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:snps, haplotype:intron:c.454-397T>C, c.454-351A>G (rs2234693, rs9340799) (human) PMID:17325140|REF_RGD_ID:10045664 11675201 ESR1 estrogen receptor 1 gene DOID:5223 infertility ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:24506075|REF_RGD_ID:8552987 11675201 ESR1 estrogen receptor 1 gene DOID:5844 myocardial infarction ISO RGD:736559 D RGD:7240710 20230517 OMIM 11675201 ESR1 estrogen receptor 1 gene DOID:5844 myocardial infarction ISO RGD:736559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:11894143|PMID:11919305|PMID:14600184 11675201 ESR1 estrogen receptor 1 gene DOID:630 genetic disease ISO RGD:736559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675201 ESR1 estrogen receptor 1 gene DOID:6364 migraine ISO RGD:736559 D RGD:7240710 20230517 OMIM 11675201 ESR1 estrogen receptor 1 gene DOID:6364 migraine ISO RGD:736559 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Migraine with or without aura, susceptibility to PMID:15133719|PMID:25741868 11675201 ESR1 estrogen receptor 1 gene DOID:6432 pulmonary hypertension ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:20081107|REF_RGD_ID:4892253 11675201 ESR1 estrogen receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144|PMID:28284560 11675201 ESR1 estrogen receptor 1 gene DOID:700 mitochondrial metabolism disease ISO RGD:736559 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30673822 11675201 ESR1 estrogen receptor 1 gene DOID:769 neuroblastoma ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27366082 11675201 ESR1 estrogen receptor 1 gene DOID:8029 sporadic breast cancer ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:17932744|REF_RGD_ID:2290043 11675201 ESR1 estrogen receptor 1 gene DOID:8029 sporadic breast cancer no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:repeat:promoter PMID:17904846|REF_RGD_ID:8552977 11675201 ESR1 estrogen receptor 1 gene DOID:8283 peritonitis treatment ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:23063870|REF_RGD_ID:8553243 11675201 ESR1 estrogen receptor 1 gene DOID:8398 osteoarthritis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs2234693) (human) PMID:20417295|REF_RGD_ID:10045662 11675201 ESR1 estrogen receptor 1 gene DOID:8398 osteoarthritis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNPs:introns: (rs2234693, rs9340799) (human) PMID:19884274|REF_RGD_ID:10045830 11675201 ESR1 estrogen receptor 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:22025007|REF_RGD_ID:8553211 11675201 ESR1 estrogen receptor 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16220300 11675201 ESR1 estrogen receptor 1 gene DOID:8646 substance-induced psychosis ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19386276 11675201 ESR1 estrogen receptor 1 gene DOID:8719 in situ carcinoma ISO RGD:736559 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17924141|REF_RGD_ID:2290024 11675201 ESR1 estrogen receptor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:25105782|REF_RGD_ID:10045844 11675201 ESR1 estrogen receptor 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:736559 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 11675201 ESR1 estrogen receptor 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736559 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:15637090|PMID:17173897|PMID:34606849 11675201 ESR1 estrogen receptor 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:2581 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus PMID:23465388|REF_RGD_ID:8553242 11675201 ESR1 estrogen receptor 1 gene DOID:9000555 Vulvar Lichen Sclerosus ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:18076706|REF_RGD_ID:2293866 11675201 ESR1 estrogen receptor 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:16522460|REF_RGD_ID:4892312 11675201 ESR1 estrogen receptor 1 gene DOID:9000918 Disease Progression ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20104649 11675201 ESR1 estrogen receptor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736559 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:20104649|PMID:35044086 11675201 ESR1 estrogen receptor 1 gene DOID:9001004 Chronic Periodontitis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15324358|REF_RGD_ID:10045837 11675201 ESR1 estrogen receptor 1 gene DOID:9001004 Chronic Periodontitis no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15324358|REF_RGD_ID:10045837 11675201 ESR1 estrogen receptor 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736559 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35044086 11675201 ESR1 estrogen receptor 1 gene DOID:9001708 Hemorrhagic Shock severity ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:20195535|REF_RGD_ID:4892252 11675201 ESR1 estrogen receptor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:10551 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:glomerulus PMID:15550505|REF_RGD_ID:2314023 11675201 ESR1 estrogen receptor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2581 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney PMID:16464734|REF_RGD_ID:2314020 11675201 ESR1 estrogen receptor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736559 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:snps:introns: multiple(human) PMID:18305958|REF_RGD_ID:2314005 11675201 ESR1 estrogen receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:10551 D RGD:9068941 20200609 RGD PMID:19285805|REF_RGD_ID:8553066 11675201 ESR1 estrogen receptor 1 gene DOID:9002239 Estrogen Resistance ISO RGD:736559 D RGD:7240710 20230517 OMIM 11675201 ESR1 estrogen receptor 1 gene DOID:9002239 Estrogen Resistance ISO RGD:736559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Estrogen resistance syndrome PMID:23841731|PMID:27754803|PMID:8090165|PMID:8961262 11675201 ESR1 estrogen receptor 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18505767 11675201 ESR1 estrogen receptor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16220300|PMID:17176215 11675201 ESR1 estrogen receptor 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:cds:c.1782G>A (rs2228480) (human) PMID:20128071|REF_RGD_ID:10045835 11675201 ESR1 estrogen receptor 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNPs:intron: (rs2234693, rs9340799) (human) PMID:24772413|REF_RGD_ID:10045829 11675201 ESR1 estrogen receptor 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:intron, exon PMID:15380041|REF_RGD_ID:10045840 11675201 ESR1 estrogen receptor 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:repeat:promoter:-1174(TA)9-25 (human) PMID:16098017|REF_RGD_ID:10043199 11675201 ESR1 estrogen receptor 1 gene DOID:9002407 Spinal Fractures no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:mutation, SNP:intron, exon: , 274G>C (human) PMID:12183765|REF_RGD_ID:10045833 11675201 ESR1 estrogen receptor 1 gene DOID:9002407 Spinal Fractures susceptibility ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:intron:g.-397T>C, g.-351A>G (human) PMID:12915669|REF_RGD_ID:10045836 11675201 ESR1 estrogen receptor 1 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:10551 D RGD:9068941 20200609 RGD associated with Osteoporosis PMID:20112355|REF_RGD_ID:10045851 11675201 ESR1 estrogen receptor 1 gene DOID:9002589 Bone Fractures ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs9340799 (human) PMID:15523071|REF_RGD_ID:10045827 11675201 ESR1 estrogen receptor 1 gene DOID:9002589 Bone Fractures no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP, repeat:promoter:rs2234693 (human) PMID:15523071|REF_RGD_ID:10045827 11675201 ESR1 estrogen receptor 1 gene DOID:9002739 Female Urogenital Diseases ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 11675201 ESR1 estrogen receptor 1 gene DOID:9003566 Mesothelioma ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15639718|PMID:17659810 11675201 ESR1 estrogen receptor 1 gene DOID:9003566 Mesothelioma ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:17659810|REF_RGD_ID:4892302 11675201 ESR1 estrogen receptor 1 gene DOID:9003919 Urination Disorders treatment ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:24259512|REF_RGD_ID:10045674 11675201 ESR1 estrogen receptor 1 gene DOID:9004265 Endometrioid Carcinomas severity ISO RGD:736559 D RGD:9068941 20200609 RGD protein:increased phosphorylation PMID:14559803|REF_RGD_ID:4105451 11675201 ESR1 estrogen receptor 1 gene DOID:9004272 Varicose Ulcer no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:polymorphism:(TA) dinucleotide repeat PMID:16153823|REF_RGD_ID:1626508 11675201 ESR1 estrogen receptor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736559 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:26990689|PMID:27366082|PMID:35044086 11675201 ESR1 estrogen receptor 1 gene DOID:9004914 Postmenopausal Osteoporosis susceptibility ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:intron: (rs2234693, rs9340799) (human) PMID:16972020|REF_RGD_ID:10045838 11675201 ESR1 estrogen receptor 1 gene DOID:9004914 Postmenopausal Osteoporosis treatment ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS1T>C (human) PMID:16604479|REF_RGD_ID:8158082 11675201 ESR1 estrogen receptor 1 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20556506 11675201 ESR1 estrogen receptor 1 gene DOID:9005040 Hand Osteoarthritis no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNPs:exons: (rs2077647, rs1801132) (human) PMID:19884274|REF_RGD_ID:10045830 11675201 ESR1 estrogen receptor 1 gene DOID:9005172 Lung Neoplasms ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11872642|PMID:17077188 11675201 ESR1 estrogen receptor 1 gene DOID:9005228 Musculoskeletal Pain ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25218601 11675201 ESR1 estrogen receptor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:10551 D RGD:9068941 20200609 RGD PMID:11759285|REF_RGD_ID:8553057 11675201 ESR1 estrogen receptor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2581 D RGD:9068941 20200609 RGD protein:increased expression:epithelial cell, nucleus PMID:15637090|REF_RGD_ID:8552983 11675201 ESR1 estrogen receptor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15637090 11675201 ESR1 estrogen receptor 1 gene DOID:9005233 Experimental Mammary Neoplasms susceptibility ISO RGD:10551 D RGD:9068941 20200609 RGD PMID:18055862|REF_RGD_ID:2290019 11675201 ESR1 estrogen receptor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2581 D RGD:9068941 20200609 RGD protein:decreased expression:penis PMID:15596216|REF_RGD_ID:2306775 11675201 ESR1 estrogen receptor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2581 D RGD:9068941 20200609 RGD protein:decreased expression:vagina,nucleus PMID:16734901|REF_RGD_ID:2314014 11675201 ESR1 estrogen receptor 1 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:intron:g.-397T>C (human) PMID:17419075|REF_RGD_ID:10045661 11675201 ESR1 estrogen receptor 1 gene DOID:9006205 Animal Disease Models ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20962747 11675201 ESR1 estrogen receptor 1 gene DOID:9006421 Feminization ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22275727 11675201 ESR1 estrogen receptor 1 gene DOID:9007181 Osteoporotic Fractures ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:25085540|REF_RGD_ID:10045675 11675201 ESR1 estrogen receptor 1 gene DOID:9007181 Osteoporotic Fractures ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:introns: (rs9397448, rs2234693, rs1643821) (human) PMID:22807154|REF_RGD_ID:10045832 11675201 ESR1 estrogen receptor 1 gene DOID:9007188 Liver Neoplasms ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16712894 11675201 ESR1 estrogen receptor 1 gene DOID:9007456 Female Infertility ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23710174 11675201 ESR1 estrogen receptor 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025|PMID:27366082 11675201 ESR1 estrogen receptor 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24185510 11675201 ESR1 estrogen receptor 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:18314151|REF_RGD_ID:4892299 11675201 ESR1 estrogen receptor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:24185510|PMID:24185512|PMID:24398047 11675201 ESR1 estrogen receptor 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:736559 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:10945602|PMID:15133719|PMID:16280033|PMID:17545528|PMID:17553133|PMID:23236557|PMID:25741868 11675201 ESR1 estrogen receptor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:17097034|REF_RGD_ID:2314012 11675201 ESR1 estrogen receptor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:snps:introns: rs3020314, rs985694, rs1884051(human) PMID:18854778|REF_RGD_ID:2314003 11675201 ESR1 estrogen receptor 1 gene DOID:9970 obesity ISO RGD:10551 D RGD:9068941 20200609 RGD PMID:11095962|REF_RGD_ID:8553065 11675201 ESR1 estrogen receptor 1 gene DOID:9970 obesity ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:22230815|REF_RGD_ID:8553199 11675201 ESR1 estrogen receptor 1 gene DOID:9970 obesity ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20667977 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1604644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:0060179 Renpenning syndrome ISO RGD:1604644 D RGD:7240710 20180130 OMIM 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:0060179 Renpenning syndrome ISO RGD:1604644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Renpenning syndrome PMID:13981686|PMID:14634649|PMID:15024694|PMID:15355434|PMID:15782410|PMID:16199547|PMID:16493439|PMID:16740914|PMID:20410308|PMID:20950397|PMID:21267006|PMID:21315190|PMID:21836667|PMID:24088041|PMID:24781215|PMID:25326635|PMID:25741868|PMID:26350204|PMID:26467025|PMID:26633545|PMID:28492532|PMID:30143497|PMID:31230720|PMID:32041777|PMID:32903913|PMID:33668121|PMID:34470565|PMID:6711604|PMID:9545405 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1604644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1604644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1604644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1604644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1604644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:1059 intellectual disability ISO RGD:1604644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild PMID:25167861|PMID:25741868|PMID:28492532 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:10907 microcephaly ISO RGD:1604644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14634649|PMID:15024694|PMID:16740914 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:12849 autistic disorder ISO RGD:1604644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:1882 atrial heart septal defect ISO RGD:1604644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16740914 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1604644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14634649 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:630 genetic disease ISO RGD:1604644 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21267006|PMID:24781215|PMID:25741868|PMID:28492532|PMID:30143497|PMID:31230720|PMID:33668121 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1604644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14634649|PMID:15024694 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:9006257 Growth Disorders ISO RGD:1604644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14634649|PMID:16740914 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:1059 intellectual disability ISO RGD:1344886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:10652 Alzheimer's disease ISO RGD:1344886 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (human) PMID:15337312|REF_RGD_ID:2317734 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:11054 urinary bladder cancer ISO RGD:1344886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:28492532 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:1344886 D RGD:9068941 20200609 RGD DNA:snp:3' utr:c.2501A>G rs2155209 (human) PMID:18638378|REF_RGD_ID:2317733 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:12704 ataxia telangiectasia ISO RGD:1344886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:1380 endometrial cancer ISO RGD:1344886 D RGD:9068941 20200609 RGD DNA:deletions:intron:IVS4_delT (human) PMID:15048091|REF_RGD_ID:2317737 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:1993 rectum cancer susceptibility ISO RGD:1344886 D RGD:9068941 20220303 RGD DNA:SNP:3'utr: (rs2155209) (human) PMID:26735576|REF_RGD_ID:151361212 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:219 colon cancer susceptibility ISO RGD:1344886 D RGD:9068941 20220303 RGD DNA:SNP:3'utr: (rs2155209) (human) PMID:26735576|REF_RGD_ID:151361212 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:2394 ovarian cancer ISO RGD:1344886 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:3069 malignant astrocytoma severity ISO RGD:1344886 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain tumor (human) PMID:17034947|REF_RGD_ID:2317736 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:3459 breast carcinoma ISO RGD:1344886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:23080121|PMID:23912341|PMID:28492532 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:3883 Lynch syndrome ISO RGD:1344886 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:3910 lung adenocarcinoma ISO RGD:735478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:5426 primary ovarian insufficiency ISO RGD:1344886 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868|PMID:28492532|PMID:30924587 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:543 dystonia ISO RGD:1344886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868|PMID:26467025|PMID:26878173|PMID:26898890|PMID:27878467|PMID:28492532|PMID:31159747 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:5517 stomach carcinoma ISO RGD:1344886 D RGD:9068941 20200609 RGD DNA:deletions:intron:IVS4_delT (human) PMID:15319296|REF_RGD_ID:2317738 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:11196167|PMID:23912341|PMID:24093751|PMID:24894818|PMID:25741868|PMID:26467025|PMID:26898890|PMID:28492532|PMID:32566746|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344886 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11196167|PMID:19383352|PMID:20052722|PMID:20805886|PMID:23912341|PMID:24033266|PMID:24093751|PMID:24894818|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26787654|PMID:26898890|PMID:27621404|PMID:28051113|PMID:28492532|PMID:29922827|PMID:32427313|PMID:32566746|PMID:33134171|PMID:33479248|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344886 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11196167|PMID:19383352|PMID:20052722|PMID:20805886|PMID:23080121|PMID:23912341|PMID:24033266|PMID:24093751|PMID:24894818|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26787654|PMID:26898890|PMID:27621404|PMID:28051113|PMID:28492532|PMID:29922827|PMID:32427313|PMID:32566746|PMID:33134171|PMID:33479248|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344886 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11196167|PMID:19383352|PMID:20052722|PMID:20805886|PMID:23080121|PMID:23912341|PMID:24033266|PMID:24093751|PMID:24894818|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26787654|PMID:26898890|PMID:27621404|PMID:28051113|PMID:28492532|PMID:29922827|PMID:32427313|PMID:32566746|PMID:33134171|PMID:33471991|PMID:33479248|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344886 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11196167|PMID:19383352|PMID:20052722|PMID:20805886|PMID:23080121|PMID:23912341|PMID:24033266|PMID:24093751|PMID:24894818|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26787654|PMID:26898890|PMID:27621404|PMID:28051113|PMID:28492532|PMID:29922827|PMID:32039725|PMID:32427313|PMID:32566746|PMID:33134171|PMID:33471991|PMID:33479248|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11196167|PMID:17576681|PMID:19383352|PMID:20052722|PMID:20805886|PMID:23080121|PMID:23912341|PMID:24033266|PMID:24093751|PMID:24763289|PMID:24894818|PMID:25503501|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26787654|PMID:26898890|PMID:27153395|PMID:27621404|PMID:28051113|PMID:28492532|PMID:28559769|PMID:29478780|PMID:29922827|PMID:32039725|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32959997|PMID:33134171|PMID:33471991|PMID:33479248|PMID:36091175|PMID:9536098|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:630 genetic disease ISO RGD:1344886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9001734 Neurocutaneous Syndromes ISO RGD:1344886 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:W210C (human) PMID:15574463|REF_RGD_ID:2317722 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9002304 Prostatic Neoplasms ISO RGD:735478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9002762 Ovarian Neoplasms ISO RGD:1344886 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:25741868|PMID:26467025|PMID:28492532|PMID:33471991 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9002928 Colonic Neoplasms ISO RGD:1344886 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colonic neoplasm PMID:23080121|PMID:23912341|PMID:25452441|PMID:25741868|PMID:26556299|PMID:27329137|PMID:28492532|PMID:31033087 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9004583 Ataxia Telangiectasia Like Disorder ISO RGD:1344886 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:18854157|PMID:19383352|PMID:19732584|PMID:19763152|PMID:20052722|PMID:20307669|PMID:20805886|PMID:21227757|PMID:21252998|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22406018|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24033266|PMID:24093751|PMID:24332946|PMID:2433832|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27433846|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28699156|PMID:28715532|PMID:28849312|PMID:28873162|PMID:28888541|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29478780|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30306255|PMID:30441849|PMID:30613976|PMID:30924587|PMID:31033087|PMID:31159747|PMID:31273614|PMID:31360874|PMID:31780696|PMID:31887429|PMID:32039725|PMID:32427313|PMID:32449991|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32959997|PMID:33098801|PMID:33426167|PMID:33471991|PMID:33479248|PMID:33510186|PMID:33956305|PMID:35089076|PMID:36091175|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9006205 Animal Disease Models ISO RGD:735478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1344886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Triple-negative breast cancer PMID:26328243 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26580448|PMID:26633542|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27433846|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28699156|PMID:28849312|PMID:28873162|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30441849|PMID:31159747|PMID:31273614|PMID:32566746|PMID:32658311|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26580448|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28849312|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29752822|PMID:29922827|PMID:30093976|PMID:31159747|PMID:31273614|PMID:32427313|PMID:32449991|PMID:32566746|PMID:32658311|PMID:33134171|PMID:33479248|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26580448|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28849312|PMID:28873162|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30613976|PMID:31159747|PMID:31273614|PMID:31780696|PMID:32427313|PMID:32449991|PMID:32566746|PMID:32658311|PMID:33134171|PMID:33471991|PMID:33479248|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26580448|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28849312|PMID:28873162|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30613976|PMID:31159747|PMID:31273614|PMID:31360874|PMID:31780696|PMID:32427313|PMID:32449991|PMID:32566746|PMID:32658311|PMID:33134171|PMID:33471991|PMID:33479248|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27433846|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28849312|PMID:28873162|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30613976|PMID:30924587|PMID:31033087|PMID:31159747|PMID:31273614|PMID:31360874|PMID:31780696|PMID:31887429|PMID:32039725|PMID:32427313|PMID:32449991|PMID:32566746|PMID:32658311|PMID:32832836|PMID:33134171|PMID:33471991|PMID:33479248|PMID:33956305|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:2433832|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27433846|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28699156|PMID:28715532|PMID:28849312|PMID:28873162|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29478780|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30441849|PMID:30613976|PMID:30924587|PMID:31033087|PMID:31159747|PMID:31273614|PMID:31360874|PMID:31780696|PMID:31887429|PMID:32039725|PMID:32427313|PMID:32449991|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32959997|PMID:33098801|PMID:33134171|PMID:33426167|PMID:33471991|PMID:33479248|PMID:33956305|PMID:36091175|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:2433832|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27433846|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28699156|PMID:28715532|PMID:28849312|PMID:28873162|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29478780|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30441849|PMID:30613976|PMID:30924587|PMID:31033087|PMID:31159747|PMID:31273614|PMID:31360874|PMID:31780696|PMID:31887429|PMID:32039725|PMID:32427313|PMID:32449991|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32959997|PMID:33098801|PMID:33134171|PMID:33426167|PMID:33471991|PMID:33479248|PMID:33510186|PMID:33956305|PMID:35089076|PMID:36091175|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:2433832|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27433846|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28699156|PMID:28715532|PMID:28849312|PMID:28873162|PMID:28888541|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29478780|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30306255|PMID:30441849|PMID:30613976|PMID:30924587|PMID:31033087|PMID:31159747|PMID:31273614|PMID:31360874|PMID:31780696|PMID:31887429|PMID:32039725|PMID:32427313|PMID:32449991|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32959997|PMID:33098801|PMID:33134171|PMID:33426167|PMID:33471991|PMID:33479248|PMID:33510186|PMID:33956305|PMID:35089076|PMID:36091175|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9007720 Ataxia-Telangiectasia-Like Disorder 1 ISO RGD:1344886 D RGD:7240710 20180130 OMIM 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9007720 Ataxia-Telangiectasia-Like Disorder 1 ISO RGD:1344886 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1 PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:15574463|PMID:16199547|PMID:16858402|PMID:18652530|PMID:18854157|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:21252998|PMID:21324166|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24033266|PMID:24332946|PMID:2433832|PMID:24549055|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25326635|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26680607|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27124789|PMID:27153395|PMID:27329137|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28559769|PMID:28715532|PMID:28849312|PMID:28873162|PMID:28888541|PMID:29170652|PMID:29348823|PMID:29478780|PMID:29752822|PMID:29922827|PMID:30306255|PMID:30441849|PMID:30613976|PMID:31033087|PMID:31159747|PMID:31780696|PMID:32039725|PMID:32427313|PMID:32449991|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32832836|PMID:33098801|PMID:33426167|PMID:33471991|PMID:33479248|PMID:33956305|PMID:8445618|PMID:8684395|PMID:9845372 11675277 RNASEH2A ribonuclease H2 subunit A gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1316328 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome PMID:17846997|PMID:20131292|PMID:21177858|PMID:21454563|PMID:23592335|PMID:24033266|PMID:24183309|PMID:24300241|PMID:25274781|PMID:25604658|PMID:25741868|PMID:26182405|PMID:27943079|PMID:28492532|PMID:31130681 11675277 RNASEH2A ribonuclease H2 subunit A gene DOID:0050990 episodic ataxia type 2 ISO RGD:1316328 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11675277 RNASEH2A ribonuclease H2 subunit A gene DOID:0080598 Kleefstra syndrome 2 ISO RGD:1316328 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 2 PMID:21454563|PMID:24183309|PMID:25274781|PMID:25604658|PMID:25741868|PMID:27943079|PMID:28492532 11675277 RNASEH2A ribonuclease H2 subunit A gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1316328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11675277 RNASEH2A ribonuclease H2 subunit A gene DOID:0111254 glutaric acidemia I ISO RGD:1316328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11675277 RNASEH2A ribonuclease H2 subunit A gene DOID:3413 alpha-mannosidosis ISO RGD:1316328 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11675277 RNASEH2A ribonuclease H2 subunit A gene DOID:3910 lung adenocarcinoma ISO RGD:1316328 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34254728 11675277 RNASEH2A ribonuclease H2 subunit A gene DOID:630 genetic disease ISO RGD:1316328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24300241|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28600779|PMID:29239743|PMID:31130284 11675277 RNASEH2A ribonuclease H2 subunit A gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1316328 D RGD:7240710 20180130 OMIM 11675277 RNASEH2A ribonuclease H2 subunit A gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1316328 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 PMID:15870678|PMID:16199547|PMID:16845400|PMID:17576681|PMID:17846997|PMID:20131292|PMID:21177858|PMID:21454563|PMID:23592335|PMID:24033266|PMID:24183309|PMID:24300241|PMID:25274781|PMID:25500883|PMID:25604658|PMID:25741868|PMID:26182405|PMID:26467025|PMID:27943079|PMID:28492532|PMID:28600779|PMID:29239743|PMID:31130284|PMID:31130681|PMID:31529068|PMID:9536098 11675289 EI24 EI24 autophagy associated transmembrane protein gene DOID:0110877 holoprosencephaly 11 ISO RGD:1320441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11675289 EI24 EI24 autophagy associated transmembrane protein gene DOID:0111723 Jacobsen Syndrome ISO RGD:1320441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11675289 EI24 EI24 autophagy associated transmembrane protein gene DOID:1059 intellectual disability ISO RGD:1320441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 11675289 EI24 EI24 autophagy associated transmembrane protein gene DOID:5419 schizophrenia ISO RGD:1320441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11675289 EI24 EI24 autophagy associated transmembrane protein gene DOID:630 genetic disease ISO RGD:1320441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675289 EI24 EI24 autophagy associated transmembrane protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11675289 EI24 EI24 autophagy associated transmembrane protein gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1320441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11675289 EI24 EI24 autophagy associated transmembrane protein gene DOID:9007661 Dwarfism ISO RGD:1320441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11675304 HTR3B 5-hydroxytryptamine receptor 3B gene DOID:0080000 muscular disease ISO RGD:730958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17600820 11675304 HTR3B 5-hydroxytryptamine receptor 3B gene DOID:1059 intellectual disability ISO RGD:730958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11675304 HTR3B 5-hydroxytryptamine receptor 3B gene DOID:1574 alcohol use disorder susceptibility ISO RGD:730958 D RGD:9068941 20200609 RGD DNA:SNP:cds:rs1176744(human) PMID:20838391|REF_RGD_ID:6480660 11675304 HTR3B 5-hydroxytryptamine receptor 3B gene DOID:1596 depressive disorder susceptibility ISO RGD:730958 D RGD:9068941 20200609 RGD PMID:16487942|REF_RGD_ID:6480662 11675304 HTR3B 5-hydroxytryptamine receptor 3B gene DOID:630 genetic disease ISO RGD:730958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675304 HTR3B 5-hydroxytryptamine receptor 3B gene DOID:9000641 Pain ISO RGD:730958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17600820 11675304 HTR3B 5-hydroxytryptamine receptor 3B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:730958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11675304 HTR3B 5-hydroxytryptamine receptor 3B gene DOID:9005632 Cocaine-Related Disorders susceptibility ISO RGD:730958 D RGD:9068941 20200609 RGD DNA:SNP:cds:rs1176744(human) PMID:20838391|REF_RGD_ID:6480660 11675317 BLTP1 bridge-like lipid transfer protein family member 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1344341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 11675317 BLTP1 bridge-like lipid transfer protein family member 1 gene DOID:0111555 Alkuraya-Kucinskas syndrome ISO RGD:1344341 D RGD:7240710 20190315 OMIM 11675317 BLTP1 bridge-like lipid transfer protein family member 1 gene DOID:0111555 Alkuraya-Kucinskas syndrome ISO RGD:1344341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkuraya-Kucinskas syndrome PMID:25558065|PMID:25741868|PMID:29290337 11675317 BLTP1 bridge-like lipid transfer protein family member 1 gene DOID:11836 clubfoot ISO RGD:1344341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:25741868|PMID:29290337|PMID:31680349 11675317 BLTP1 bridge-like lipid transfer protein family member 1 gene DOID:14766 renal agenesis ISO RGD:1344341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal agenesis PMID:25741868|PMID:29290337|PMID:31680349 11675317 BLTP1 bridge-like lipid transfer protein family member 1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1344341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:25558065 11675317 BLTP1 bridge-like lipid transfer protein family member 1 gene DOID:630 genetic disease ISO RGD:1344341 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11675317 BLTP1 bridge-like lipid transfer protein family member 1 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1344341 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 11675317 BLTP1 bridge-like lipid transfer protein family member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11675412 KCTD19 potassium channel tetramerization domain containing 19 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1349783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11675412 KCTD19 potassium channel tetramerization domain containing 19 gene DOID:630 genetic disease ISO RGD:1349783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675412 KCTD19 potassium channel tetramerization domain containing 19 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1349783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 11675436 ELOVL1 ELOVL fatty acid elongase 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1349015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11675436 ELOVL1 ELOVL fatty acid elongase 1 gene DOID:630 genetic disease ISO RGD:1349015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675436 ELOVL1 ELOVL fatty acid elongase 1 gene DOID:9006712 ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES ISO RGD:1349015 D RGD:7240710 20190918 OMIM 11675436 ELOVL1 ELOVL fatty acid elongase 1 gene DOID:9006712 ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES ISO RGD:1349015 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features PMID:28492532|PMID:29496980|PMID:30487246|PMID:35379526 11675461 GPR183 G protein-coupled receptor 183 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1346200 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 11675461 GPR183 G protein-coupled receptor 183 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1346200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 11675461 GPR183 G protein-coupled receptor 183 gene DOID:2986 IgA glomerulonephritis ISO RGD:1346200 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 11675461 GPR183 G protein-coupled receptor 183 gene DOID:4621 holoprosencephaly ISO RGD:1346200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 11675461 GPR183 G protein-coupled receptor 183 gene DOID:630 genetic disease ISO RGD:1346200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675461 GPR183 G protein-coupled receptor 183 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1346200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11675467 HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:0111458 galactose epimerase deficiency ISO RGD:733716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: UDPglucose-4-epimerase deficiency 11675467 HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:630 genetic disease ISO RGD:733716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15308132|PMID:15752612|PMID:17692550|PMID:19177531|PMID:23465862|PMID:25741868|PMID:25872961|PMID:28257639|PMID:28492532|PMID:28583327|PMID:9163320|PMID:9439591 11675467 HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:9002882 Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:733716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:10916782|PMID:14518825|PMID:15122894|PMID:15308132|PMID:16199547|PMID:16330550|PMID:17173698|PMID:17692550|PMID:19036343|PMID:19177531|PMID:19932602|PMID:23465862|PMID:25741868|PMID:25872961|PMID:28488182|PMID:28492532|PMID:28583327|PMID:28747690|PMID:8798725|PMID:9439591|PMID:9463337|PMID:9784232|PMID:9817922 11675467 HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620554 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:5667251|REF_RGD_ID:2326171 11675467 HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:733716 D RGD:7240710 20180130 OMIM 11675467 HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:733716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:10916782|PMID:11129331|PMID:11461194|PMID:12746442|PMID:14518825|PMID:15122894|PMID:15308132|PMID:15752612|PMID:16199547|PMID:16330550|PMID:16601870|PMID:17173698|PMID:17576681|PMID:17628222|PMID:17692550|PMID:19036343|PMID:19177531|PMID:19932602|PMID:20532825|PMID:23465862|PMID:2443756|PMID:25741868|PMID:25872961|PMID:28220407|PMID:28257639|PMID:28488182|PMID:28492532|PMID:28583327|PMID:28747690|PMID:32059735|PMID:6085636|PMID:7479590|PMID:8617516|PMID:8798725|PMID:8978493|PMID:9163320|PMID:9439591|PMID:9463337|PMID:9536098|PMID:9784232|PMID:9817922 11675467 HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:9252 amino acid metabolic disorder ISO RGD:733716 D RGD:9068941 20200609 RGD Hydroxymethylglutaric aciduria/HMG-CoA lyase deficiency DNA:deletion, frameshift_mutation:CDS:2-bp deletion in the serine-69 codon PMID:8440722|REF_RGD_ID:1599500 11675484 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11675484 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:0080509 Cornelia de Lange syndrome 5 ISO RGD:733215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 PMID:24403048|PMID:25741868 11675484 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:0111040 glycogen storage disease IXd ISO RGD:733215 D RGD:7240710 20180130 OMIM 11675484 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:0111040 glycogen storage disease IXd ISO RGD:733215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXd PMID:12825073|PMID:15637709|PMID:16199547|PMID:17576681|PMID:18401027|PMID:22238410|PMID:2252364|PMID:25640679|PMID:25741868|PMID:26242992|PMID:28492532|PMID:29667327|PMID:32528171|PMID:7874115|PMID:8145916|PMID:9536098|PMID:9731190 11675484 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:733215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked PMID:26242992|PMID:28492532 11675484 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:12849 autistic disorder ISO RGD:733215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11675484 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:1459 hypothyroidism ISO RGD:621522 D RGD:9068941 20200609 RGD PMID:2774570|REF_RGD_ID:70269 11675484 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:2747 glycogen storage disease ISO RGD:733215 D RGD:9068941 20200609 RGD DNA:missense mutation PMID:12825073|REF_RGD_ID:1599893 11675484 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:574 peripheral nervous system disease ISO RGD:733215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868 11675484 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:630 genetic disease ISO RGD:733215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11675484 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:8445 intestinal volvulus ISO RGD:733215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11675484 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:870 neuropathy ISO RGD:733215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868 11675484 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621522 D RGD:9068941 20200609 RGD PMID:11692172|REF_RGD_ID:1599897 11675484 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:733215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11675533 CENPW centromere protein W gene DOID:0080600 COVID-19 ISO RGD:1350206 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11675533 CENPW centromere protein W gene DOID:630 genetic disease ISO RGD:1350206 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675533 CENPW centromere protein W gene DOID:684 hepatocellular carcinoma ISO RGD:1350206 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11675548 SMIM19 small integral membrane protein 19 gene DOID:0090039 torsion dystonia 6 ISO RGD:1602660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 11675548 SMIM19 small integral membrane protein 19 gene DOID:0111959 immunodeficiency 15B ISO RGD:1602660 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 11675548 SMIM19 small integral membrane protein 19 gene DOID:630 genetic disease ISO RGD:1602660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675548 SMIM19 small integral membrane protein 19 gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:1602660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:27726124 11675548 SMIM19 small integral membrane protein 19 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1602660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 11675573 ATCAY ATCAY kinesin light chain interacting caytaxin gene DOID:0050753 cerebellar ataxia susceptibility ISO RGD:1319593 D RGD:9068941 20200609 RGD PMID:14556008|REF_RGD_ID:1599348 11675573 ATCAY ATCAY kinesin light chain interacting caytaxin gene DOID:0060694 Cayman type cerebellar ataxia ISO RGD:1319593 D RGD:7240710 20180130 OMIM 11675573 ATCAY ATCAY kinesin light chain interacting caytaxin gene DOID:0060694 Cayman type cerebellar ataxia ISO RGD:1319593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cayman type cerebellar ataxia PMID:25741868|PMID:28492532|PMID:29449188 11675573 ATCAY ATCAY kinesin light chain interacting caytaxin gene DOID:13938 amenorrhea ISO RGD:1319593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11675573 ATCAY ATCAY kinesin light chain interacting caytaxin gene DOID:543 dystonia ISO RGD:1309312 D RGD:9068941 20200609 RGD DNA:insertion:intron (rat) PMID:16246457|REF_RGD_ID:5133436 11675573 ATCAY ATCAY kinesin light chain interacting caytaxin gene DOID:543 dystonia ISO RGD:1617620 D RGD:9068941 20200609 RGD DNA:insertions, deletion:intron, exons (mouse) PMID:14556008|REF_RGD_ID:1599348 11675573 ATCAY ATCAY kinesin light chain interacting caytaxin gene DOID:630 genetic disease ISO RGD:1319593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675573 ATCAY ATCAY kinesin light chain interacting caytaxin gene DOID:9004866 Ataxia ISO RGD:1617620 D RGD:9068941 20200609 RGD DNA:insertions, deletion:intron, exons (mouse) PMID:14556008|REF_RGD_ID:1599348 11675591 FKBPL FKBP prolyl isomerase like gene DOID:0050553 JMP syndrome ISO RGD:1353952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11675591 FKBPL FKBP prolyl isomerase like gene DOID:630 genetic disease ISO RGD:1353952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675591 FKBPL FKBP prolyl isomerase like gene DOID:9008939 Breast Neoplasms ISO RGD:1353952 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20103631 11675597 SF3A3 splicing factor 3a subunit 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1318668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11675597 SF3A3 splicing factor 3a subunit 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1318668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11675597 SF3A3 splicing factor 3a subunit 3 gene DOID:630 genetic disease ISO RGD:1318668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675618 GPR75 G protein-coupled receptor 75 gene DOID:630 genetic disease ISO RGD:1343209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675651 SULT4A1 sulfotransferase family 4A member 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:736677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11675651 SULT4A1 sulfotransferase family 4A member 1 gene DOID:1059 intellectual disability ISO RGD:736677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11675651 SULT4A1 sulfotransferase family 4A member 1 gene DOID:630 genetic disease ISO RGD:736677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675665 SRSF6 serine and arginine rich splicing factor 6 gene DOID:0070168 spermatogenic failure 3 susceptibility ISO RGD:1342668 D RGD:9068941 20200609 RGD DNA:snp:intron:g.IVS2+305T>C (rs6103330) (human) PMID:24661730|REF_RGD_ID:11039404 11675665 SRSF6 serine and arginine rich splicing factor 6 gene DOID:12858 Huntington's disease ISO RGD:1342668 D RGD:9068941 20200609 RGD protein:increased expression:striatum (human) PMID:25038828|REF_RGD_ID:11039484 11675665 SRSF6 serine and arginine rich splicing factor 6 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:1342668 D RGD:9068941 20200609 RGD DNA:snp:exon:p.P281P (rs2235611) (human) PMID:21309690|REF_RGD_ID:11039452 11675665 SRSF6 serine and arginine rich splicing factor 6 gene DOID:1324 lung cancer ISO RGD:1342668 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:23132731|REF_RGD_ID:11039482 11675665 SRSF6 serine and arginine rich splicing factor 6 gene DOID:2234 focal epilepsy ISO RGD:1342668 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11675665 SRSF6 serine and arginine rich splicing factor 6 gene DOID:234 colon adenocarcinoma ISO RGD:1342668 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon mucosa (human) PMID:9865741|REF_RGD_ID:11039405 11675665 SRSF6 serine and arginine rich splicing factor 6 gene DOID:4159 skin cancer ISO RGD:1342668 D RGD:9068941 20200609 RGD protein:increased expression:skin (human) PMID:24440982|REF_RGD_ID:11039481 11675665 SRSF6 serine and arginine rich splicing factor 6 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1342668 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney (human) PMID:21082031|REF_RGD_ID:11039407 11675665 SRSF6 serine and arginine rich splicing factor 6 gene DOID:630 genetic disease ISO RGD:1342668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675665 SRSF6 serine and arginine rich splicing factor 6 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1342668 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms;mRNA:increased expression:epithelium of female gonad (human) PMID:23748175|REF_RGD_ID:11039469 11675665 SRSF6 serine and arginine rich splicing factor 6 gene DOID:9006285 Epidermal Hyperplasia ISO RGD:1342668 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:24440982|REF_RGD_ID:11039481 11675688 TMEM235 transmembrane protein 235 gene DOID:630 genetic disease ISO RGD:4892151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675699 FBXL22 F-box and leucine rich repeat protein 22 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1350469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11675699 FBXL22 F-box and leucine rich repeat protein 22 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1350469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 11675699 FBXL22 F-box and leucine rich repeat protein 22 gene DOID:2717 Bloom syndrome ISO RGD:1350469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11675699 FBXL22 F-box and leucine rich repeat protein 22 gene DOID:630 genetic disease ISO RGD:1350469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675699 FBXL22 F-box and leucine rich repeat protein 22 gene DOID:9256 colorectal cancer ISO RGD:1350469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11675705 TYROBP transmembrane immune signaling adaptor TYROBP gene DOID:0090112 Nasu-Hakola disease ISO RGD:1351113 D RGD:7240710 20180130 OMIM 11675705 TYROBP transmembrane immune signaling adaptor TYROBP gene DOID:0090112 Nasu-Hakola disease ISO RGD:1351113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 PMID:10888890|PMID:11109371|PMID:12370476|PMID:15883308|PMID:17125796|PMID:20500450|PMID:22082900|PMID:25741868|PMID:27658901|PMID:28492532|PMID:28620717|PMID:31996268 11675705 TYROBP transmembrane immune signaling adaptor TYROBP gene DOID:0110222 Brugada syndrome 5 ISO RGD:1351113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11675705 TYROBP transmembrane immune signaling adaptor TYROBP gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1351113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11675705 TYROBP transmembrane immune signaling adaptor TYROBP gene DOID:409 liver disease ISO RGD:1351113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12651611 11675705 TYROBP transmembrane immune signaling adaptor TYROBP gene DOID:630 genetic disease ISO RGD:1351113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11675705 TYROBP transmembrane immune signaling adaptor TYROBP gene DOID:7148 rheumatoid arthritis treatment ISO RGD:1303081 D RGD:9068941 20210604 RGD PMID:27049384|REF_RGD_ID:127229930 11675705 TYROBP transmembrane immune signaling adaptor TYROBP gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11675705 TYROBP transmembrane immune signaling adaptor TYROBP gene DOID:9008023 Memory Disorders ISO RGD:1351113 D RGD:8554872 20230103 ClinVar ClinVar Annotator: match by term: Memory impairment PMID:25741868 11675717 DACH2 dachshund family transcription factor 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11675717 DACH2 dachshund family transcription factor 2 gene DOID:12849 autistic disorder ISO RGD:1354112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11675717 DACH2 dachshund family transcription factor 2 gene DOID:630 genetic disease ISO RGD:1354112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675739 CRYL1 crystallin lambda 1 gene DOID:0050563 nonsyndromic deafness ISO RGD:735568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:11807148|PMID:12917317|PMID:14571368|PMID:14681039|PMID:15994881|PMID:19047647|PMID:22098503|PMID:23303923|PMID:24158611|PMID:28823936|PMID:30311386 11675739 CRYL1 crystallin lambda 1 gene DOID:0110253 cataract 14 multiple types ISO RGD:735568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types PMID:28492532 11675739 CRYL1 crystallin lambda 1 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:735568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:15994881|PMID:17041943|PMID:18324688|PMID:20236118|PMID:28492532 11675739 CRYL1 crystallin lambda 1 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:735568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 PMID:11807148|PMID:12172394|PMID:12885339|PMID:14571368|PMID:15638823|PMID:15994881|PMID:17041943|PMID:18324688|PMID:20236118|PMID:27480936|PMID:28492532 11675739 CRYL1 crystallin lambda 1 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:735568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:11807148|PMID:12172394|PMID:12885339|PMID:14571368|PMID:15638823|PMID:15994881|PMID:17041943|PMID:18324688|PMID:27480936|PMID:28492532 11675739 CRYL1 crystallin lambda 1 gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:735568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:27480936|PMID:28492532 11675739 CRYL1 crystallin lambda 1 gene DOID:14693 Clouston syndrome ISO RGD:735568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:27480936|PMID:28492532 11675739 CRYL1 crystallin lambda 1 gene DOID:2121 ectodermal dysplasia ISO RGD:735568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:27480936|PMID:28492532 11675739 CRYL1 crystallin lambda 1 gene DOID:630 genetic disease ISO RGD:735568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675739 CRYL1 crystallin lambda 1 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 11675739 CRYL1 crystallin lambda 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11675762 MIDEAS mitotic deacetylase associated SANT domain protein gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1314547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 11675762 MIDEAS mitotic deacetylase associated SANT domain protein gene DOID:1059 intellectual disability ISO RGD:1314547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11675762 MIDEAS mitotic deacetylase associated SANT domain protein gene DOID:630 genetic disease ISO RGD:1314547 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675792 ARHGAP42 Rho GTPase activating protein 42 gene DOID:1059 intellectual disability ISO RGD:3500508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11675792 ARHGAP42 Rho GTPase activating protein 42 gene DOID:12704 ataxia telangiectasia ISO RGD:3500508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11675792 ARHGAP42 Rho GTPase activating protein 42 gene DOID:630 genetic disease ISO RGD:3500508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675825 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:0050777 Joubert syndrome ISO RGD:1319171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11675825 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1319171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11675825 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1319171 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11675825 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1319171 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11675825 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1319171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11675825 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1319171 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11675825 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1319171 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11675825 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:0081097 Rafiq syndrome ISO RGD:1319171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11675825 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1319171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 11675825 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:2843 long QT syndrome ISO RGD:1319171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11675825 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:3652 Leigh disease ISO RGD:1319171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11675825 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:630 genetic disease ISO RGD:1319171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675825 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:9005249 Immunodeficiency 103 ISO RGD:1319171 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS PMID:28492532 11675825 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1319171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 11675853 PPIL1 peptidylprolyl isomerase like 1 gene DOID:0050553 JMP syndrome ISO RGD:1319281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11675853 PPIL1 peptidylprolyl isomerase like 1 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1319281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital pontocerebellar hypoplasia PMID:24033266|PMID:33220177 11675853 PPIL1 peptidylprolyl isomerase like 1 gene DOID:0112325 pontocerebellar hypoplasia type 14 ISO RGD:1319281 D RGD:7240710 20210505 OMIM 11675853 PPIL1 peptidylprolyl isomerase like 1 gene DOID:0112325 pontocerebellar hypoplasia type 14 ISO RGD:1319281 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 14 PMID:24033266|PMID:25741868|PMID:33220177 11675853 PPIL1 peptidylprolyl isomerase like 1 gene DOID:10907 microcephaly ISO RGD:1319282 D RGD:9068941 20220825 MouseDO 11675853 PPIL1 peptidylprolyl isomerase like 1 gene DOID:630 genetic disease ISO RGD:1319281 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675853 PPIL1 peptidylprolyl isomerase like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:24033266|PMID:33220177 11675861 RDH12 retinol dehydrogenase 12 gene DOID:0050572 cone-rod dystrophy ISO RGD:1321376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod degeneration PMID:15258582|PMID:16269441|PMID:20006610|PMID:22065924|PMID:24474277|PMID:25741868|PMID:27032803|PMID:28492532|PMID:32014858 11675861 RDH12 retinol dehydrogenase 12 gene DOID:0050572 cone-rod dystrophy ISO RGD:1321376 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:15258582|PMID:16269441|PMID:20006610|PMID:22065924|PMID:23847139|PMID:24474277|PMID:25741868|PMID:27032803|PMID:28157192|PMID:28492532|PMID:30134391|PMID:32014858 11675861 RDH12 retinol dehydrogenase 12 gene DOID:0050817 Stargardt disease ISO RGD:1321376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:25741868 11675861 RDH12 retinol dehydrogenase 12 gene DOID:0070223 progressive familial intrahepatic cholestasis 3 ISO RGD:1321376 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Low Gamma-GT Familial Intrahepatic Cholestasis PMID:17964524|PMID:22065924|PMID:25741868|PMID:28492532|PMID:32014858|PMID:34001834 11675861 RDH12 retinol dehydrogenase 12 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1321376 D RGD:7240710 20180130 OMIM 11675861 RDH12 retinol dehydrogenase 12 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1321376 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: Retinitis pigmentosa 53 PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:21232531|PMID:21602930|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25412400|PMID:25494902|PMID:25561519|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26868535|PMID:27032803|PMID:27208204|PMID:27422788|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:2855908|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31630094|PMID:31814694|PMID:32014858|PMID:32141364|PMID:32790509|PMID:34001834|PMID:34448047|PMID:9536098 11675861 RDH12 retinol dehydrogenase 12 gene DOID:10584 retinitis pigmentosa ISO RGD:1321376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:31054281|PMID:32014858 11675861 RDH12 retinol dehydrogenase 12 gene DOID:10584 retinitis pigmentosa ISO RGD:1321376 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26306921|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30718709|PMID:30979730|PMID:31054281|PMID:32014858 11675861 RDH12 retinol dehydrogenase 12 gene DOID:10584 retinitis pigmentosa ISO RGD:1321376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:32014858|PMID:32141364|PMID:32790509|PMID:34001834|PMID:34448047 11675861 RDH12 retinol dehydrogenase 12 gene DOID:10584 retinitis pigmentosa ISO RGD:1321376 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:32014858|PMID:32141364|PMID:32790509|PMID:34001834|PMID:34448047 11675861 RDH12 retinol dehydrogenase 12 gene DOID:1242 globe disease ISO RGD:1321376 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Globe disease PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:20301475|PMID:20683928|PMID:22065924|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26667666|PMID:28041643|PMID:28492532 11675861 RDH12 retinol dehydrogenase 12 gene DOID:14791 Leber congenital amaurosis ISO RGD:1321376 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital PMID:15258582|PMID:15322982|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17964524|PMID:19011012|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30979730|PMID:31814694|PMID:32014858|PMID:32865313|PMID:34448047 11675861 RDH12 retinol dehydrogenase 12 gene DOID:14791 Leber congenital amaurosis ISO RGD:1321376 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:27032803|PMID:27208204|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31814694|PMID:32014858|PMID:32141364|PMID:32790509|PMID:32865313|PMID:34001834|PMID:34448047|PMID:9536098 11675861 RDH12 retinol dehydrogenase 12 gene DOID:4448 macular degeneration ISO RGD:1321376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:16269441|PMID:17512964|PMID:19011012|PMID:21151602|PMID:22065924|PMID:23591405|PMID:25412400|PMID:25494902|PMID:25741868|PMID:28492532|PMID:30902645|PMID:30979730|PMID:32014858|PMID:32790509|PMID:34001834 11675861 RDH12 retinol dehydrogenase 12 gene DOID:607 paraplegia ISO RGD:1321376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11675861 RDH12 retinol dehydrogenase 12 gene DOID:630 genetic disease ISO RGD:1321376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11675861 RDH12 retinol dehydrogenase 12 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1321376 D RGD:9068941 20200609 RGD PMID:15322982|REF_RGD_ID:1599415 11675861 RDH12 retinol dehydrogenase 12 gene DOID:8466 retinal degeneration ISO RGD:1321376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16269441 11675861 RDH12 retinol dehydrogenase 12 gene DOID:8501 fundus dystrophy ISO RGD:1321376 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:18779497|PMID:19140180|PMID:20301475|PMID:20683928|PMID:20736127|PMID:22065924|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26497376|PMID:26667666|PMID:27032803|PMID:27208204|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31456290|PMID:32014858|PMID:32141364|PMID:34001834|PMID:34448047|PMID:9536098 11675861 RDH12 retinol dehydrogenase 12 gene DOID:9008296 Eye Abnormalities ISO RGD:1321376 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:20301475|PMID:20683928|PMID:22065924|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26667666|PMID:28041643|PMID:28492532 11675873 CLVS1 clavesin 1 gene DOID:0050834 CHARGE syndrome ISO RGD:1602646 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:18413373|PMID:19772954|PMID:22258531|PMID:22902603|PMID:28492532 11675873 CLVS1 clavesin 1 gene DOID:630 genetic disease ISO RGD:1602646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675883 ZNF174 zinc finger protein 174 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1322583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11675883 ZNF174 zinc finger protein 174 gene DOID:1826 epilepsy ISO RGD:1322583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11675883 ZNF174 zinc finger protein 174 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1322583 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11675883 ZNF174 zinc finger protein 174 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1322583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 11675883 ZNF174 zinc finger protein 174 gene DOID:2843 long QT syndrome ISO RGD:1322583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11675883 ZNF174 zinc finger protein 174 gene DOID:630 genetic disease ISO RGD:1322583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675900 MRPL14 mitochondrial ribosomal protein L14 gene DOID:630 genetic disease ISO RGD:1314744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675910 TBL2 transducin beta like 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1354068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 11675910 TBL2 transducin beta like 2 gene DOID:0080600 COVID-19 ISO RGD:1354068 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11675910 TBL2 transducin beta like 2 gene DOID:10907 microcephaly ISO RGD:1354068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11675910 TBL2 transducin beta like 2 gene DOID:10923 sickle cell anemia ISO RGD:1354068 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 11675910 TBL2 transducin beta like 2 gene DOID:12849 autistic disorder ISO RGD:1354068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11675910 TBL2 transducin beta like 2 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1354068 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 11675910 TBL2 transducin beta like 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1354068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11675910 TBL2 transducin beta like 2 gene DOID:5419 schizophrenia ISO RGD:1354068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11675910 TBL2 transducin beta like 2 gene DOID:630 genetic disease ISO RGD:1354068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675910 TBL2 transducin beta like 2 gene DOID:8445 intestinal volvulus ISO RGD:1354068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11675910 TBL2 transducin beta like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11675910 TBL2 transducin beta like 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1354068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11675947 RNF133 ring finger protein 133 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11675947 RNF133 ring finger protein 133 gene DOID:630 genetic disease ISO RGD:1350521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675952 AP1S2 adaptor related protein complex 1 subunit sigma 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11675952 AP1S2 adaptor related protein complex 1 subunit sigma 2 gene DOID:0060800 syndromic X-linked intellectual disability 5 ISO RGD:1348501 D RGD:7240710 20180130 OMIM 11675952 AP1S2 adaptor related protein complex 1 subunit sigma 2 gene DOID:0060800 syndromic X-linked intellectual disability 5 ISO RGD:1348501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pettigrew syndrome PMID:10398241|PMID:12599187|PMID:17186471|PMID:17617514|PMID:18414213|PMID:18428203|PMID:2018058|PMID:23756445|PMID:25741868|PMID:33847015|PMID:5054319 11675952 AP1S2 adaptor related protein complex 1 subunit sigma 2 gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1348501 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 11675952 AP1S2 adaptor related protein complex 1 subunit sigma 2 gene DOID:12849 autistic disorder ISO RGD:1348501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11675952 AP1S2 adaptor related protein complex 1 subunit sigma 2 gene DOID:13636 Fanconi anemia ISO RGD:1348501 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 11675952 AP1S2 adaptor related protein complex 1 subunit sigma 2 gene DOID:630 genetic disease ISO RGD:1348501 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11675952 AP1S2 adaptor related protein complex 1 subunit sigma 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348501 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11675952 AP1S2 adaptor related protein complex 1 subunit sigma 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:0050661 vitelliform macular dystrophy susceptibility ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-625G>A (rs11200638) (human) PMID:22893068|REF_RGD_ID:7394745 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:0060863 patterned macular dystrophy susceptibility ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-625G>A (rs11200638) (human) PMID:22893068|REF_RGD_ID:7394745 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:0080600 COVID-19 ISO RGD:732659 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:0110019 age related macular degeneration 7 ISO RGD:732659 D RGD:7240710 20180130 OMIM 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:0110019 age related macular degeneration 7 ISO RGD:732659 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 7 | ClinVar Annotator: match by term: Susceptibility to neovascular type of age-related macular degeneration PMID:17053108|PMID:17053109|PMID:17568988|PMID:18511946|PMID:19259132|PMID:30068478|PMID:31719132|PMID:34510819|PMID:34626176 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:0110019 age related macular degeneration 7 severity ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:snps:promoter, exons:g.-497C>T, g.+108G>T/C, g.5230C>T (rs2672598, rs2293870, rs1049331) (human) PMID:19796758|REF_RGD_ID:7394719 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:0110019 age related macular degeneration 7 susceptibility ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:polymorphisms:multiple (human) PMID:18207215|REF_RGD_ID:7394722 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:0110019 age related macular degeneration 7 susceptibility ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:snp:intron:g.IVS1+9824G>A (rs932275) (human) PMID:19933195|REF_RGD_ID:7394713 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:0110019 age related macular degeneration 7 susceptibility ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-497C>T (rs2672598) (human) PMID:18436811|REF_RGD_ID:7394721 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:0111036 CADASIL2 ISO RGD:732659 D RGD:7240710 20190315 OMIM 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:0111036 CADASIL2 ISO RGD:732659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 PMID:19387015|PMID:25712943|PMID:25741868|PMID:26063658|PMID:26467025|PMID:27164673|PMID:28402226|PMID:28492532|PMID:29561953|PMID:29895533|PMID:30447605|PMID:30981321|PMID:31316458|PMID:32101834|PMID:32581362|PMID:34220097 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:10534 stomach cancer ISO RGD:732659 D RGD:9068941 20220609 RGD protein:decreased expression:stomach (human) PMID:25761858|REF_RGD_ID:11058317 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:10534 stomach cancer treatment ISO RGD:732659 D RGD:9068941 20220609 RGD PMID:21447133|REF_RGD_ID:152977763 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:10763 hypertension ISO RGD:732659 D RGD:9068941 20200609 RGD associated with Macular Degeneration; DNA:snp:cds:g.102C>T (rs1049331) (human) PMID:21682878|REF_RGD_ID:7394697 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:10871 age related macular degeneration susceptibility ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-1894G>A (rs3793917) (human) PMID:22618592|REF_RGD_ID:7394695 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:silent mutations:exon:g.+102C>T, g.+108G>T/C (rs1049331, rs2293870) (human) PMID:18164066|REF_RGD_ID:7394724 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-625G>A (rs11200638) (human) PMID:22800422|REF_RGD_ID:7387322 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:1107 esophageal carcinoma disease_progression ISO RGD:732659 D RGD:9068941 20220609 RGD mRNA,protein:decreased expression:esophagus (human) PMID:22935172|REF_RGD_ID:152985525 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:13945 CADASIL ISO RGD:732659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:1790 malignant mesothelioma disease_progression ISO RGD:732659 D RGD:9068941 20220527 RGD protein:increased expression:mesothelium (human) PMID:18681782|REF_RGD_ID:152975625 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:1826 epilepsy ISO RGD:732659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizures PMID:19387015|PMID:25741868|PMID:26063658|PMID:28492532|PMID:29895533|PMID:32101834|PMID:32581362 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:2152 ovary epithelial cancer treatment ISO RGD:732659 D RGD:9068941 20220603 RGD PMID:16767218|REF_RGD_ID:152977756 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:219 colon cancer disease_progression ISO RGD:732659 D RGD:9068941 20220609 RGD DNA:SNP:cds: (rs1049331) (human) PMID:32218415|REF_RGD_ID:152985527 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:2340 craniosynostosis ISO RGD:732659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:3748 esophagus squamous cell carcinoma ameliorates ISO RGD:732659 D RGD:9068941 20220603 RGD human gene and cells in mouse model PMID:23079781|REF_RGD_ID:152975633 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:732659 D RGD:9068941 20220603 RGD mRNA,protein:decreased expression:epithelium of esophagus (human) PMID:23079781|REF_RGD_ID:152975633 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:732659 D RGD:9068941 20220527 RGD protein:decreased expression:lung (human) PMID:32878625|REF_RGD_ID:152975629 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:732659 D RGD:9068941 20220526 RGD human cells in mouse model PMID:24356998|REF_RGD_ID:152975621 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:4448 macular degeneration ISO RGD:732659 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:18164066|PMID:18316707|PMID:20437615|PMID:25741868|PMID:26467025|PMID:27338780|PMID:28492532|PMID:28782182|PMID:32017060 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:630 genetic disease ISO RGD:732659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:732659 D RGD:9068941 20220609 RGD mRNA:decreased expression:liver (human) PMID:26403966|REF_RGD_ID:152985529 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:732659 D RGD:9068941 20220609 RGD protein:decreased expression:liver (human) PMID:20943460|REF_RGD_ID:152985524 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:8577 ulcerative colitis ISO RGD:732659 D RGD:9068941 20220609 RGD protein:decreased expression:colonic epithelium,colonic mucosa (human) PMID:28586045|REF_RGD_ID:152985530 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:8725 vascular dementia ISO RGD:732659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:24500651|PMID:25741868|PMID:33268848|PMID:35307828 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:9001044 Choroidal Neovascularization ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-625G>A (rs11200638) (human) PMID:18682806|REF_RGD_ID:7394694 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:9001044 Choroidal Neovascularization ISO RGD:732659 D RGD:9068941 20200609 RGD human gene in mouse model PMID:21844367|REF_RGD_ID:7394749 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:9001044 Choroidal Neovascularization no_association ISO RGD:732659 D RGD:9068941 20200609 RGD associated with Myopia; DNA:snp:promoter:g.-625G>A (rs11200638) (human) PMID:19680273|REF_RGD_ID:7394720 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:9001147 Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy ISO RGD:732659 D RGD:7240710 20180130 OMIM 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:9001147 Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy ISO RGD:732659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARASIL syndrome | ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease | ClinVar Annotator: match by term: HTRA1-related cerebral small vessel disease PMID:11889251|PMID:18316707|PMID:19387015|PMID:20437615|PMID:21115960|PMID:21482952|PMID:22900900|PMID:23963851|PMID:24500651|PMID:24535794|PMID:25741868|PMID:25770224|PMID:25772074|PMID:25957642|PMID:26063658|PMID:26467025|PMID:27164673|PMID:27353043|PMID:28492532|PMID:28782182|PMID:29561953|PMID:29895533|PMID:30859180|PMID:31316458|PMID:32101834|PMID:32581362|PMID:33268848|PMID:34220097 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:9001427 Geographic Atrophy ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-625G>A (rs11200638) (human) PMID:17426452|REF_RGD_ID:7394693 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:732659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:19387015|PMID:25741868|PMID:26063658|PMID:28492532|PMID:29895533|PMID:32101834|PMID:32581362 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:9008537 Polypoidal Choroidal Vasculopathy ISO RGD:732659 D RGD:9068941 20200609 RGD human gene in mouse model PMID:21844367|REF_RGD_ID:7394749 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:9008537 Polypoidal Choroidal Vasculopathy susceptibility ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-625G>A (rs11200638) (human) PMID:23326481|REF_RGD_ID:7394751 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:9256 colorectal cancer ISO RGD:732659 D RGD:9068941 20220609 RGD protein:decreased expression:colonic epithelium,colonic mucosa (human) PMID:28586045|REF_RGD_ID:152985530 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:9256 colorectal cancer exacerbates ISO RGD:732659 D RGD:9068941 20220609 RGD mRNA, protein:increased expression,decreased expression:colorectal mucosa (human) PMID:32486357|REF_RGD_ID:152977762 11675975 HTRA1 HtrA serine peptidase 1 gene DOID:9351 diabetes mellitus ISO RGD:732659 D RGD:9068941 20220527 RGD associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:decreased expression:lung (human) PMID:27411924|REF_RGD_ID:152975631 11675989 AVPI1 arginine vasopressin induced 1 gene DOID:630 genetic disease ISO RGD:1353971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675989 AVPI1 arginine vasopressin induced 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1353971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 11675996 THBS3 thrombospondin 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1314326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11675996 THBS3 thrombospondin 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1314326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11675996 THBS3 thrombospondin 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11675996 THBS3 thrombospondin 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314326 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11675996 THBS3 thrombospondin 3 gene DOID:10283 prostate cancer ISO RGD:1314326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11675996 THBS3 thrombospondin 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1314326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11675996 THBS3 thrombospondin 3 gene DOID:5812 MHC class II deficiency ISO RGD:1314326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11675996 THBS3 thrombospondin 3 gene DOID:630 genetic disease ISO RGD:1314326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675996 THBS3 thrombospondin 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11676038 RPS29 ribosomal protein S29 gene DOID:0111889 Diamond-Blackfan anemia 13 ISO RGD:734258 D RGD:7240710 20180130 OMIM 11676038 RPS29 ribosomal protein S29 gene DOID:0111889 Diamond-Blackfan anemia 13 ISO RGD:734258 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 13 PMID:24829207|PMID:25741868|PMID:28492532 11676038 RPS29 ribosomal protein S29 gene DOID:630 genetic disease ISO RGD:734258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676038 RPS29 ribosomal protein S29 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:734258 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11676038 RPS29 ribosomal protein S29 gene DOID:9562 primary ciliary dyskinesia ISO RGD:734258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11676051 LSM14A LSM14A mRNA processing body assembly factor gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1313874 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11676051 LSM14A LSM14A mRNA processing body assembly factor gene DOID:630 genetic disease ISO RGD:1313874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676085 LPL lipoprotein lipase gene DOID:0050700 cardiomyopathy ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10533957 11676085 LPL lipoprotein lipase gene DOID:0080000 muscular disease ISO RGD:70836 D RGD:9068941 20200609 RGD PMID:7635990|REF_RGD_ID:1302535 11676085 LPL lipoprotein lipase gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:27978932|PMID:30214514|REF_RGD_ID:13793398|REF_RGD_ID:13794377 11676085 LPL lipoprotein lipase gene DOID:0080600 COVID-19 ISO RGD:70836 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11676085 LPL lipoprotein lipase gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:70836 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:28492532|PMID:32041611|PMID:33303402 11676085 LPL lipoprotein lipase gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:70836 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:28492532|PMID:32041611|PMID:33303402 11676085 LPL lipoprotein lipase gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:70836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 11676085 LPL lipoprotein lipase gene DOID:10608 celiac disease ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 11676085 LPL lipoprotein lipase gene DOID:10652 Alzheimer's disease ISO RGD:70836 D RGD:9068941 20200609 RGD PMID:24004859|REF_RGD_ID:13793392 11676085 LPL lipoprotein lipase gene DOID:10652 Alzheimer's disease ISO RGD:70836 D RGD:9068941 20200609 RGD DNA:SNPs: :rs268, rs328 (human) PMID:16013913|REF_RGD_ID:5685661 11676085 LPL lipoprotein lipase gene DOID:10652 Alzheimer's disease ISO RGD:70836 D RGD:9068941 20200609 RGD DNA:point mutations: :p.N291S, p.S447X (human) PMID:10206232|REF_RGD_ID:13799353 11676085 LPL lipoprotein lipase gene DOID:10652 Alzheimer's disease ISO RGD:70836 D RGD:9068941 20200609 RGD DNA:polymorphism:intron PMID:15331147|REF_RGD_ID:13793396 11676085 LPL lipoprotein lipase gene DOID:10652 Alzheimer's disease no_association ISO RGD:70836 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:27897113|REF_RGD_ID:13793395 11676085 LPL lipoprotein lipase gene DOID:10652 Alzheimer's disease no_association ISO RGD:70836 D RGD:9068941 20200609 RGD DNA:point mutations: :p.N291S, p.S447X (human) PMID:12133567|REF_RGD_ID:13793397 11676085 LPL lipoprotein lipase gene DOID:10652 Alzheimer's disease severity ISO RGD:70836 D RGD:9068941 20200609 RGD DNA, mRNA:SNP, decreased expression: :rs285 (human) PMID:16965549|REF_RGD_ID:13793393 11676085 LPL lipoprotein lipase gene DOID:10763 hypertension ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 11676085 LPL lipoprotein lipase gene DOID:10763 hypertension ISO RGD:70836 D RGD:9068941 20200806 RGD PMID:16132104|REF_RGD_ID:1580535 11676085 LPL lipoprotein lipase gene DOID:1168 familial hyperlipidemia ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17658632 11676085 LPL lipoprotein lipase gene DOID:1168 familial hyperlipidemia ISO RGD:70836 D RGD:9068941 20200609 RGD PMID:9920508|REF_RGD_ID:1556571 11676085 LPL lipoprotein lipase gene DOID:1168 familial hyperlipidemia treatment ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:29931882|REF_RGD_ID:13794383 11676085 LPL lipoprotein lipase gene DOID:1287 cardiovascular system disease ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16544732 11676085 LPL lipoprotein lipase gene DOID:12930 dilated cardiomyopathy ISO RGD:70836 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic PMID:28492532|PMID:32041611|PMID:33303402 11676085 LPL lipoprotein lipase gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:14531811|REF_RGD_ID:2308781 11676085 LPL lipoprotein lipase gene DOID:13809 familial combined hyperlipidemia ISO RGD:70836 D RGD:7240710 20180130 OMIM 11676085 LPL lipoprotein lipase gene DOID:13809 familial combined hyperlipidemia ISO RGD:70836 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10364086|PMID:10517255|PMID:11260209|PMID:11334614|PMID:11893776|PMID:12839295|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:15877202|PMID:1598907|PMID:1619366|PMID:16199547|PMID:16278884|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1752947|PMID:17560523|PMID:17717288|PMID:18068174|PMID:18350203|PMID:1872917|PMID:18922999|PMID:19335919|PMID:1969408|PMID:1975597|PMID:2038366|PMID:20650961|PMID:21146168|PMID:21159338|PMID:22095987|PMID:22239554|PMID:22691586|PMID:23212406|PMID:23484243|PMID:2394828|PMID:24033266|PMID:24291057|PMID:24366202|PMID:24503134|PMID:24507774|PMID:24591733|PMID:24627108|PMID:24747307|PMID:24793350|PMID:25741868|PMID:25966443|PMID:26156051|PMID:26337181|PMID:26975783|PMID:27055971|PMID:27142713|PMID:27150867|PMID:27573733|PMID:28008009|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28502509|PMID:28606150|PMID:28951076|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29431110|PMID:29748148|PMID:30150141|PMID:30210108|PMID:31589614|PMID:31619059|PMID:32041611|PMID:32472350|PMID:33217533|PMID:33303402|PMID:6645961|PMID:7607318|PMID:7647785|PMID:7753827|PMID:7906986|PMID:8096693|PMID:8099055|PMID:8199176|PMID:8541837|PMID:8732773|PMID:8808493|PMID:8872057|PMID:9401010|PMID:9550358|PMID:9811888 11676085 LPL lipoprotein lipase gene DOID:13809 familial combined hyperlipidemia ISO RGD:70836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10364086|PMID:10517255|PMID:10560236|PMID:10619999|PMID:11260209|PMID:11334614|PMID:11893776|PMID:12204001|PMID:12655575|PMID:12839295|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:15877202|PMID:1598907|PMID:1619366|PMID:16199547|PMID:16278884|PMID:1639392|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1731801|PMID:17476032|PMID:1752947|PMID:17560523|PMID:17717288|PMID:18068174|PMID:18350203|PMID:1872917|PMID:18922999|PMID:1907278|PMID:19335919|PMID:1969408|PMID:1975597|PMID:2038366|PMID:20650961|PMID:21146168|PMID:21159338|PMID:22095987|PMID:22239554|PMID:22691586|PMID:23212406|PMID:23484243|PMID:2394828|PMID:24033266|PMID:24291057|PMID:24366202|PMID:24503134|PMID:24507774|PMID:24591733|PMID:24627108|PMID:24646025|PMID:24747307|PMID:24793350|PMID:25741868|PMID:25966443|PMID:26079787|PMID:26156051|PMID:26337181|PMID:26342331|PMID:26975783|PMID:27055971|PMID:27097985|PMID:27142713|PMID:27150867|PMID:27206937|PMID:27573733|PMID:28008009|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28502509|PMID:28606150|PMID:28951076|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29431110|PMID:29748148|PMID:29921298|PMID:30150141|PMID:30210108|PMID:30420299|PMID:31589614|PMID:31619059|PMID:31669931|PMID:32041611|PMID:32472350|PMID:33217533|PMID:33303402|PMID:33588820|PMID:35309119|PMID:35368694|PMID:6645961|PMID:7607318|PMID:7647785|PMID:7753827|PMID:7906986|PMID:8096693|PMID:8099055|PMID:8199176|PMID:8541837|PMID:8732773|PMID:8808493|PMID:8872057|PMID:8956048|PMID:8973094|PMID:9401010|PMID:9550358|PMID:9811888 11676085 LPL lipoprotein lipase gene DOID:13809 familial combined hyperlipidemia ISO RGD:70836 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10364086|PMID:10517255|PMID:10560236|PMID:10619999|PMID:11260209|PMID:11334614|PMID:11893776|PMID:12204001|PMID:12655575|PMID:12839295|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:15877202|PMID:1598907|PMID:1619366|PMID:16199547|PMID:16278884|PMID:1639392|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1731801|PMID:17476032|PMID:1752947|PMID:17560523|PMID:17717288|PMID:18068174|PMID:18350203|PMID:1872917|PMID:18922999|PMID:1907278|PMID:19335919|PMID:1969408|PMID:1975597|PMID:2038366|PMID:20650961|PMID:21146168|PMID:21159338|PMID:22095987|PMID:22239554|PMID:22691586|PMID:23212406|PMID:23484243|PMID:2394828|PMID:24033266|PMID:24291057|PMID:24366202|PMID:24503134|PMID:24507774|PMID:24591733|PMID:24627108|PMID:24646025|PMID:24747307|PMID:24793350|PMID:25741868|PMID:25966443|PMID:26079787|PMID:26156051|PMID:26337181|PMID:26342331|PMID:26975783|PMID:27055971|PMID:27097985|PMID:27142713|PMID:27150867|PMID:27206937|PMID:27573733|PMID:28008009|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28502509|PMID:28606150|PMID:28951076|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29431110|PMID:29748148|PMID:29921298|PMID:30150141|PMID:30210108|PMID:30420299|PMID:30559189|PMID:31153847|PMID:31589614|PMID:31619059|PMID:31669931|PMID:32041611|PMID:32472350|PMID:33217533|PMID:33303402|PMID:33588820|PMID:35309119|PMID:35368694|PMID:36555767|PMID:6645961|PMID:7607318|PMID:7647785|PMID:7753827|PMID:7906986|PMID:8096693|PMID:8099055|PMID:8199176|PMID:8541837|PMID:8732773|PMID:8808493|PMID:8872057|PMID:8956048|PMID:8973094|PMID:9401010|PMID:9550358|PMID:9811888 11676085 LPL lipoprotein lipase gene DOID:14118 familial lipoprotein lipase deficiency ISO RGD:70836 D RGD:7240710 20180130 OMIM 11676085 LPL lipoprotein lipase gene DOID:14118 familial lipoprotein lipase deficiency ISO RGD:70836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperlipemia essential familial | ClinVar Annotator: match by term: Hyperlipoproteinemia, type I PMID:10364086|PMID:10407505|PMID:10431049|PMID:10517255|PMID:10560236|PMID:10619999|PMID:10735636|PMID:11134145|PMID:11260209|PMID:11334614|PMID:11893776|PMID:12204001|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:1530621|PMID:1562620|PMID:1576758|PMID:15840743|PMID:15877202|PMID:1598907|PMID:16174715|PMID:16199547|PMID:16278884|PMID:1639392|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1731801|PMID:1737848|PMID:1752947|PMID:17717288|PMID:18068174|PMID:1833777|PMID:18350203|PMID:18649389|PMID:1872917|PMID:1907278|PMID:1937490|PMID:1969408|PMID:1975597|PMID:2010533|PMID:2038366|PMID:2110364|PMID:21146168|PMID:21159338|PMID:2121025|PMID:22095987|PMID:22129523|PMID:22239554|PMID:2294743|PMID:23212406|PMID:23246289|PMID:23484243|PMID:2349938|PMID:2394828|PMID:24033266|PMID:24212298|PMID:24291057|PMID:24366202|PMID:24627108|PMID:24646025|PMID:24793350|PMID:2536938|PMID:25741868|PMID:25966443|PMID:26156051|PMID:26337181|PMID:26342331|PMID:26892137|PMID:27055971|PMID:27142713|PMID:27153815|PMID:27573733|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28606150|PMID:28951076|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29479812|PMID:29748148|PMID:29921298|PMID:30150141|PMID:31619059|PMID:6645961|PMID:7647785|PMID:7818530|PMID:7906986|PMID:8077845|PMID:8096693|PMID:8099055|PMID:8135797|PMID:8199176|PMID:8228642|PMID:8288243|PMID:8325986|PMID:8486765|PMID:8541837|PMID:8567671|PMID:8843465|PMID:8858123|PMID:8872057|PMID:9225235|PMID:9279761|PMID:9401010|PMID:9550358|PMID:9714430|PMID:9811888 11676085 LPL lipoprotein lipase gene DOID:14118 familial lipoprotein lipase deficiency ISO RGD:70836 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial Lipoprotein Lipase Deficiency | ClinVar Annotator: match by term: Hyperlipemia essential familial | ClinVar Annotator: match by term: Hyperlipoproteinemia, type I PMID:10364086|PMID:10407505|PMID:10431049|PMID:10517255|PMID:10560236|PMID:10619999|PMID:10735636|PMID:11134145|PMID:11260209|PMID:11334614|PMID:11730817|PMID:11893776|PMID:12204001|PMID:12655575|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:1521525|PMID:1530621|PMID:1562620|PMID:1576758|PMID:15840743|PMID:15877202|PMID:1598907|PMID:16174715|PMID:1619366|PMID:16199547|PMID:16278884|PMID:1639392|PMID:16431216|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1731801|PMID:1737848|PMID:17476032|PMID:1752947|PMID:17560523|PMID:17717288|PMID:18068174|PMID:1833777|PMID:18350203|PMID:18649389|PMID:1872917|PMID:18922999|PMID:1907278|PMID:19335919|PMID:1937490|PMID:1969408|PMID:1975597|PMID:2010533|PMID:2038366|PMID:20650961|PMID:2110364|PMID:21146168|PMID:21159338|PMID:2121025|PMID:22095987|PMID:22129523|PMID:22239554|PMID:22691586|PMID:2294743|PMID:23212406|PMID:23246289|PMID:23484243|PMID:2349938|PMID:2394828|PMID:24033266|PMID:24212298|PMID:24291057|PMID:24366202|PMID:24497850|PMID:24503134|PMID:24507774|PMID:24591733|PMID:24627108|PMID:24646025|PMID:24747307|PMID:24793350|PMID:2536938|PMID:25525159|PMID:25741868|PMID:25966443|PMID:26079787|PMID:26156051|PMID:26337181|PMID:26342331|PMID:26892137|PMID:26975783|PMID:27055971|PMID:27097985|PMID:27142713|PMID:27150867|PMID:27153815|PMID:27206937|PMID:27573733|PMID:28008009|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28502509|PMID:28606150|PMID:28695157|PMID:28951076|PMID:28958672|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29431110|PMID:29479812|PMID:29748148|PMID:29921298|PMID:30150141|PMID:30210108|PMID:30333156|PMID:30389453|PMID:30420299|PMID:30559189|PMID:31153847|PMID:31589614|PMID:31619059|PMID:31669931|PMID:32041611|PMID:32472350|PMID:33217533|PMID:33303402|PMID:33879184|PMID:36555767|PMID:6645961|PMID:7607318|PMID:7647785|PMID:7818530|PMID:7906986|PMID:8077845|PMID:8096693|PMID:8099055|PMID:8135797|PMID:8199176|PMID:8228642|PMID:8288243|PMID:8325986|PMID:8486765|PMID:8541837|PMID:8567671|PMID:8732773|PMID:8808493|PMID:8843465|PMID:8858123|PMID:8872057|PMID:8956048|PMID:8973094|PMID:9225235|PMID:9279761|PMID:9401010|PMID:9550358|PMID:9714430|PMID:9811888 11676085 LPL lipoprotein lipase gene DOID:14221 abdominal obesity-metabolic syndrome 1 treatment ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:26996629|REF_RGD_ID:13794382 11676085 LPL lipoprotein lipase gene DOID:1883 hepatitis C ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17517063 11676085 LPL lipoprotein lipase gene DOID:305 carcinoma ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11676085 LPL lipoprotein lipase gene DOID:3393 coronary artery disease ISO RGD:70836 D RGD:9068941 20200609 RGD PMID:8641022|REF_RGD_ID:1580537 11676085 LPL lipoprotein lipase gene DOID:4989 pancreatitis ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18936103 11676085 LPL lipoprotein lipase gene DOID:5844 myocardial infarction susceptibility ISO RGD:70836 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP: :p.D9N (rs1801177) (human) PMID:18823627|REF_RGD_ID:2313302 11676085 LPL lipoprotein lipase gene DOID:630 genetic disease ISO RGD:70836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12839295|PMID:18068174|PMID:22239554|PMID:24793350|PMID:25741868|PMID:25966443|PMID:27578109|PMID:28267856|PMID:28492532|PMID:31669931|PMID:32041611|PMID:33217533|PMID:33588820|PMID:35309119|PMID:35368694 11676085 LPL lipoprotein lipase gene DOID:783 end stage renal disease ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:22009636|REF_RGD_ID:6909179 11676085 LPL lipoprotein lipase gene DOID:9000288 Chronic Intermittent Hypoxia treatment ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:29968701|REF_RGD_ID:13793400 11676085 LPL lipoprotein lipase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11676085 LPL lipoprotein lipase gene DOID:9000528 Coronary Disease ISO RGD:70836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary heart disease PMID:10364086|PMID:10517255|PMID:21146168|PMID:24033266|PMID:25741868|PMID:28492532|PMID:8199176|PMID:8541837|PMID:8872057 11676085 LPL lipoprotein lipase gene DOID:9000808 Hypercholesterolemia ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21852083 11676085 LPL lipoprotein lipase gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:28442378|REF_RGD_ID:13794376 11676085 LPL lipoprotein lipase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11676085 LPL lipoprotein lipase gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:70836 D RGD:9068941 20200609 RGD PMID:16813599|REF_RGD_ID:2306755 11676085 LPL lipoprotein lipase gene DOID:9002180 Familial Hyperchylomicronemia Syndrome ISO RGD:70836 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia type 1 PMID:10364086|PMID:10407505|PMID:10431049|PMID:10517255|PMID:10560236|PMID:10619999|PMID:10735636|PMID:11334614|PMID:11730817|PMID:11893776|PMID:12204001|PMID:12655575|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:1562620|PMID:1576758|PMID:15877202|PMID:1598907|PMID:16174715|PMID:1619366|PMID:16199547|PMID:16278884|PMID:1639392|PMID:16431216|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1731801|PMID:1737848|PMID:17476032|PMID:1752947|PMID:17560523|PMID:17717288|PMID:18068174|PMID:18350203|PMID:18649389|PMID:1872917|PMID:18922999|PMID:1907278|PMID:19335919|PMID:1969408|PMID:1975597|PMID:2038366|PMID:20650961|PMID:21146168|PMID:21159338|PMID:22095987|PMID:22129523|PMID:22239554|PMID:22691586|PMID:23212406|PMID:23246289|PMID:23484243|PMID:2394828|PMID:24033266|PMID:24212298|PMID:24291057|PMID:24366202|PMID:24497850|PMID:24503134|PMID:24507774|PMID:24591733|PMID:24627108|PMID:24646025|PMID:24747307|PMID:24793350|PMID:25741868|PMID:25966443|PMID:26079787|PMID:26156051|PMID:26337181|PMID:26342331|PMID:26892137|PMID:26975783|PMID:27055971|PMID:27097985|PMID:27142713|PMID:27150867|PMID:27206937|PMID:27573733|PMID:28008009|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28502509|PMID:28606150|PMID:28695157|PMID:28951076|PMID:28958672|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29431110|PMID:29748148|PMID:29921298|PMID:30150141|PMID:30210108|PMID:30389453|PMID:30420299|PMID:30559189|PMID:31153847|PMID:31589614|PMID:31619059|PMID:31669931|PMID:32041611|PMID:32472350|PMID:33217533|PMID:33303402|PMID:33879184|PMID:36555767|PMID:6645961|PMID:7607318|PMID:7647785|PMID:7906986|PMID:8096693|PMID:8099055|PMID:8199176|PMID:8541837|PMID:8732773|PMID:8808493|PMID:8843465|PMID:8872057|PMID:8956048|PMID:8973094|PMID:9279761|PMID:9401010|PMID:9811888 11676085 LPL lipoprotein lipase gene DOID:9002304 Prostatic Neoplasms ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15386377 11676085 LPL lipoprotein lipase gene DOID:9002928 Colonic Neoplasms ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 11676085 LPL lipoprotein lipase gene DOID:9003370 Dyslipidemias ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17952847 11676085 LPL lipoprotein lipase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11676085 LPL lipoprotein lipase gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16030523 11676085 LPL lipoprotein lipase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:18780778|REF_RGD_ID:2313303 11676085 LPL lipoprotein lipase gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:27158912|REF_RGD_ID:13794379 11676085 LPL lipoprotein lipase gene DOID:9005749 Necrosis ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10533957 11676085 LPL lipoprotein lipase gene DOID:9005911 Hyperapobetalipoproteinemia ISO RGD:70836 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hyperapobetalipoproteinemia PMID:10560236|PMID:10619999|PMID:11334614|PMID:11893776|PMID:12204001|PMID:12655575|PMID:12839295|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:15877202|PMID:1598907|PMID:1619366|PMID:16199547|PMID:16278884|PMID:1639392|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1731801|PMID:17476032|PMID:1752947|PMID:17560523|PMID:17717288|PMID:18068174|PMID:18350203|PMID:1872917|PMID:18922999|PMID:1907278|PMID:19335919|PMID:1969408|PMID:1975597|PMID:2038366|PMID:20650961|PMID:21159338|PMID:22095987|PMID:22239554|PMID:22691586|PMID:23212406|PMID:23484243|PMID:2394828|PMID:24291057|PMID:24366202|PMID:24503134|PMID:24507774|PMID:24591733|PMID:24627108|PMID:24646025|PMID:24747307|PMID:24793350|PMID:25741868|PMID:25966443|PMID:26079787|PMID:26156051|PMID:26337181|PMID:26342331|PMID:26975783|PMID:27055971|PMID:27097985|PMID:27142713|PMID:27150867|PMID:27206937|PMID:27573733|PMID:28008009|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28502509|PMID:28606150|PMID:28951076|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29431110|PMID:29748148|PMID:29921298|PMID:30150141|PMID:30210108|PMID:30420299|PMID:30559189|PMID:31153847|PMID:31589614|PMID:31619059|PMID:31669931|PMID:32041611|PMID:32472350|PMID:33217533|PMID:33303402|PMID:33588820|PMID:35309119|PMID:35368694|PMID:36555767|PMID:6645961|PMID:7607318|PMID:7647785|PMID:7906986|PMID:8096693|PMID:8099055|PMID:8541837|PMID:8732773|PMID:8808493|PMID:8956048|PMID:8973094|PMID:9401010|PMID:9811888 11676085 LPL lipoprotein lipase gene DOID:9006599 Hypertriglyceridemia ISO RGD:70836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia PMID:25741868 11676085 LPL lipoprotein lipase gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:70836 D RGD:9068941 20200609 RGD PMID:17848837|REF_RGD_ID:2313305 11676085 LPL lipoprotein lipase gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:27071702|REF_RGD_ID:13794380 11676085 LPL lipoprotein lipase gene DOID:9007692 Insulin Resistance ISO RGD:10876 D RGD:9068941 20200609 RGD PMID:18952837|REF_RGD_ID:2313300 11676085 LPL lipoprotein lipase gene DOID:9352 type 2 diabetes mellitus ISO RGD:70836 D RGD:9068941 20200609 RGD PMID:8641022|REF_RGD_ID:1580537 11676085 LPL lipoprotein lipase gene DOID:9352 type 2 diabetes mellitus ISO RGD:70836 D RGD:9068941 20200609 RGD DNA:SNP:intron:13836C>A (rs343) (human) PMID:18985010|REF_RGD_ID:2313298 11676085 LPL lipoprotein lipase gene DOID:9352 type 2 diabetes mellitus ISO RGD:70836 D RGD:9068941 20200609 RGD associated with Obesity PMID:18321693|REF_RGD_ID:2313304 11676085 LPL lipoprotein lipase gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:29981201|REF_RGD_ID:13793399 11676085 LPL lipoprotein lipase gene DOID:9970 obesity ISO RGD:10876 D RGD:9068941 20200609 RGD PMID:18952837|REF_RGD_ID:2313300 11676085 LPL lipoprotein lipase gene DOID:9970 obesity ISO RGD:3017 D RGD:9068941 20200609 RGD mRNA:increased expression:white fat PMID:17712951|REF_RGD_ID:2313580 11676085 LPL lipoprotein lipase gene DOID:9970 obesity ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18344982 11676085 LPL lipoprotein lipase gene DOID:9970 obesity treatment ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:27160499|PMID:28514832|REF_RGD_ID:13793401|REF_RGD_ID:13794378 11676099 RNF214 ring finger protein 214 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1604189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 11676099 RNF214 ring finger protein 214 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1604189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11676099 RNF214 ring finger protein 214 gene DOID:0080690 RASopathy ISO RGD:1604189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11676099 RNF214 ring finger protein 214 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1604189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 11676099 RNF214 ring finger protein 214 gene DOID:0111123 nephronophthisis 15 ISO RGD:1604189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 11676099 RNF214 ring finger protein 214 gene DOID:0111971 immunodeficiency 18 ISO RGD:1604189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 11676099 RNF214 ring finger protein 214 gene DOID:0111972 immunodeficiency 19 ISO RGD:1604189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 11676099 RNF214 ring finger protein 214 gene DOID:0111973 immunodeficiency 17 ISO RGD:1604189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 PMID:28492532 11676099 RNF214 ring finger protein 214 gene DOID:1059 intellectual disability ISO RGD:1604189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11676099 RNF214 ring finger protein 214 gene DOID:630 genetic disease ISO RGD:1604189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676099 RNF214 ring finger protein 214 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11676099 RNF214 ring finger protein 214 gene DOID:9007661 Dwarfism ISO RGD:1604189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11676117 LOC100988670 histone H2A type 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1319217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11676117 LOC100988670 histone H2A type 1 gene DOID:9538 multiple myeloma ISO RGD:1319217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11676125 DPH6 diphthamine biosynthesis 6 gene DOID:2717 Bloom syndrome ISO RGD:1603188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11676125 DPH6 diphthamine biosynthesis 6 gene DOID:630 genetic disease ISO RGD:1603188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676125 DPH6 diphthamine biosynthesis 6 gene DOID:9256 colorectal cancer ISO RGD:1603188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11676141 FOXB2 forkhead box B2 gene DOID:630 genetic disease ISO RGD:1605769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676146 MAP3K9 mitogen-activated protein kinase kinase kinase 9 gene DOID:1909 melanoma ISO RGD:1352186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22197930 11676146 MAP3K9 mitogen-activated protein kinase kinase kinase 9 gene DOID:630 genetic disease ISO RGD:1352186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676165 CCDC179 coiled-coil domain containing 179 gene DOID:1059 intellectual disability ISO RGD:7205404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11676165 CCDC179 coiled-coil domain containing 179 gene DOID:630 genetic disease ISO RGD:7205404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676173 C1S complement C1s gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1605130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11676173 C1S complement C1s gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1605130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11676173 C1S complement C1s gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1605130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11676173 C1S complement C1s gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1605130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11676173 C1S complement C1s gene DOID:0080939 hereditary angioedema type I ISO RGD:1605130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3184114 11676173 C1S complement C1s gene DOID:0080986 Ehlers-Danlos syndrome periodontal type 1 ISO RGD:1605130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 PMID:27745832 11676173 C1S complement C1s gene DOID:0080987 Ehlers-Danlos syndrome periodontal type 2 ISO RGD:1605130 D RGD:7240710 20190315 OMIM 11676173 C1S complement C1s gene DOID:0080987 Ehlers-Danlos syndrome periodontal type 2 ISO RGD:1605130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 PMID:25741868|PMID:27745832|PMID:28492532 11676173 C1S complement C1s gene DOID:0111621 Temtamy syndrome ISO RGD:1605130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11676173 C1S complement C1s gene DOID:2048 autoimmune hepatitis ISO RGD:1605130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11390518 11676173 C1S complement C1s gene DOID:417 autoimmune disease ISO RGD:1605130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11390518 11676173 C1S complement C1s gene DOID:630 genetic disease ISO RGD:1605130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11676173 C1S complement C1s gene DOID:9006194 Complement Component C1s Deficiency ISO RGD:1605130 D RGD:7240710 20180130 OMIM 11676173 C1S complement C1s gene DOID:9006194 Complement Component C1s Deficiency ISO RGD:1605130 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Complement component C1s deficiency PMID:11390518|PMID:25741868|PMID:28492532 11676173 C1S complement C1s gene DOID:9007355 Hashimoto Disease ISO RGD:1605130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11390518 11676173 C1S complement C1s gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1605130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11676203 MROH1 maestro heat like repeat family member 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:2302193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11676203 MROH1 maestro heat like repeat family member 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:2302193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11676203 MROH1 maestro heat like repeat family member 1 gene DOID:4621 holoprosencephaly ISO RGD:2302193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11676203 MROH1 maestro heat like repeat family member 1 gene DOID:630 genetic disease ISO RGD:2302193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676279 MAGEB3 MAGE family member B3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11676279 MAGEB3 MAGE family member B3 gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:1353042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked PMID:17504899|PMID:20685758|PMID:21408189|PMID:26980296|PMID:28492532 11676279 MAGEB3 MAGE family member B3 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1353042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:12632325|PMID:19937601|PMID:22510846|PMID:23453023|PMID:24302611|PMID:24504883|PMID:28492532|PMID:31705731 11676279 MAGEB3 MAGE family member B3 gene DOID:12849 autistic disorder ISO RGD:1353042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11676279 MAGEB3 MAGE family member B3 gene DOID:630 genetic disease ISO RGD:1353042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676279 MAGEB3 MAGE family member B3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11676303 C11H11orf21 chromosome 11 C11orf21 homolog gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1354141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11676303 C11H11orf21 chromosome 11 C11orf21 homolog gene DOID:0080773 delta beta-thalassemia ISO RGD:1354141 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11676303 C11H11orf21 chromosome 11 C11orf21 homolog gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1354141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11676303 C11H11orf21 chromosome 11 C11orf21 homolog gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1354141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11676303 C11H11orf21 chromosome 11 C11orf21 homolog gene DOID:630 genetic disease ISO RGD:1354141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676303 C11H11orf21 chromosome 11 C11orf21 homolog gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1354141 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770605 11676303 C11H11orf21 chromosome 11 C11orf21 homolog gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1354141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11676314 MMACHC metabolism of cobalamin associated C gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1601765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11676314 MMACHC metabolism of cobalamin associated C gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:1601765 D RGD:7240710 20180130 OMIM 11676314 MMACHC metabolism of cobalamin associated C gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:1601765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type | ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:11261516|PMID:11320193|PMID:14568819|PMID:16199547|PMID:16311595|PMID:16714133|PMID:17431913|PMID:17576681|PMID:17768669|PMID:17853453|PMID:18164228|PMID:18245139|PMID:19370762|PMID:19573432|PMID:19700356|PMID:19760748|PMID:19767224|PMID:19836982|PMID:19914430|PMID:20219402|PMID:20549364|PMID:20610126|PMID:20631720|PMID:20652818|PMID:20924684|PMID:21055272|PMID:21114891|PMID:21228398|PMID:21835369|PMID:22447314|PMID:22560872|PMID:22642810|PMID:23241609|PMID:23580368|PMID:23591356|PMID:23757202|PMID:23825108|PMID:23837176|PMID:23932106|PMID:23954310|PMID:24033266|PMID:24126030|PMID:24210589|PMID:24577983|PMID:24599607|PMID:25388550|PMID:25398587|PMID:25511120|PMID:25668207|PMID:25672861|PMID:25687216|PMID:25689098|PMID:25741868|PMID:25772322|PMID:25809485|PMID:25894566|PMID:26149271|PMID:26253414|PMID:26270766|PMID:26283149|PMID:26287336|PMID:26464686|PMID:26467025|PMID:26563984|PMID:26658511|PMID:26825575|PMID:26979128|PMID:26990548|PMID:27252276|PMID:27383490|PMID:27751223|PMID:28151490|PMID:28218226|PMID:28327205|PMID:28337550|PMID:28454995|PMID:28481040|PMID:28492532|PMID:28693988|PMID:28835862|PMID:29294253|PMID:29340559|PMID:29379858|PMID:29396438|PMID:29453417|PMID:29581464|PMID:29731766|PMID:30157807|PMID:30197982|PMID:30209273|PMID:30293248|PMID:30863077|PMID:31092259|PMID:31130284|PMID:31278756|PMID:31279840|PMID:31470807|PMID:31503356|PMID:31555752|PMID:31574870|PMID:31998365|PMID:32071835|PMID:32164588|PMID:32439973|PMID:32481360|PMID:32943488|PMID:33411215|PMID:33473346|PMID:34215320|PMID:34356170|PMID:34389282|PMID:34445196|PMID:9536098 11676314 MMACHC metabolism of cobalamin associated C gene DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ISO RGD:1601765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | ClinVar Annotator: match by term: Methylmalonic aciduria, mut type PMID:11320193|PMID:16311595|PMID:16714133|PMID:17431913|PMID:17853453|PMID:18164228|PMID:19370762|PMID:19700356|PMID:19760748|PMID:20219402|PMID:20631720|PMID:21055272|PMID:22560872|PMID:23825108|PMID:24577983|PMID:25511120|PMID:25687216|PMID:25741868|PMID:25809485|PMID:26149271|PMID:26283149|PMID:26563984|PMID:28218226|PMID:28492532|PMID:28693988 11676314 MMACHC metabolism of cobalamin associated C gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1601765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY PMID:11320193|PMID:16311595|PMID:16714133|PMID:17431913|PMID:17853453|PMID:18164228|PMID:19370762|PMID:19700356|PMID:19760748|PMID:20219402|PMID:20631720|PMID:21055272|PMID:22560872|PMID:23825108|PMID:24577983|PMID:25511120|PMID:25687216|PMID:25741868|PMID:25809485|PMID:26149271|PMID:26283149|PMID:26563984|PMID:28218226|PMID:28492532|PMID:28693988 11676314 MMACHC metabolism of cobalamin associated C gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1601765 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:16311595|PMID:16714133|PMID:17768669|PMID:17853453|PMID:18164228|PMID:19370762|PMID:19760748|PMID:20549364|PMID:20610126|PMID:20631720|PMID:23757202|PMID:23837176|PMID:24033266|PMID:24126030|PMID:24599607|PMID:25687216|PMID:25741868|PMID:25894566|PMID:26467025|PMID:28492532|PMID:29396438|PMID:31279840 11676314 MMACHC metabolism of cobalamin associated C gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1601765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11676314 MMACHC metabolism of cobalamin associated C gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1601765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11676314 MMACHC metabolism of cobalamin associated C gene DOID:14749 methylmalonic acidemia ISO RGD:1601765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria PMID:11261516|PMID:16311595|PMID:16714133|PMID:17853453|PMID:18245139|PMID:19370762|PMID:19700356|PMID:25398587|PMID:25672861|PMID:25689098|PMID:25741868|PMID:26825575|PMID:26990548|PMID:28492532|PMID:34356170 11676314 MMACHC metabolism of cobalamin associated C gene DOID:630 genetic disease ISO RGD:1601765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11261516|PMID:11320193|PMID:16311595|PMID:16714133|PMID:17853453|PMID:18164228|PMID:18245139|PMID:19370762|PMID:19700356|PMID:20219402|PMID:20631720|PMID:21055272|PMID:22560872|PMID:23825108|PMID:23932106|PMID:24126030|PMID:25398587|PMID:25672861|PMID:25687216|PMID:25689098|PMID:25741868|PMID:25809485|PMID:26283149|PMID:26825575|PMID:26990548|PMID:28218226|PMID:28337550|PMID:28492532|PMID:28693988|PMID:30293248|PMID:31555752|PMID:32439973|PMID:34356170|PMID:34445196 11676314 MMACHC metabolism of cobalamin associated C gene DOID:655 inherited metabolic disorder ISO RGD:1601765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:11261516|PMID:11320193|PMID:14568819|PMID:16311595|PMID:16714133|PMID:17431913|PMID:17768669|PMID:17853453|PMID:18164228|PMID:18245139|PMID:19370762|PMID:19700356|PMID:19760748|PMID:20219402|PMID:20549364|PMID:20610126|PMID:20631720|PMID:20924684|PMID:21055272|PMID:22560872|PMID:22642810|PMID:23757202|PMID:23825108|PMID:23837176|PMID:23932106|PMID:23954310|PMID:24033266|PMID:24126030|PMID:24210589|PMID:24577983|PMID:24599607|PMID:25398587|PMID:25511120|PMID:25668207|PMID:25672861|PMID:25687216|PMID:25689098|PMID:25741868|PMID:25772322|PMID:25809485|PMID:25894566|PMID:26149271|PMID:26283149|PMID:26467025|PMID:26563984|PMID:26825575|PMID:26990548|PMID:27383490|PMID:28218226|PMID:28327205|PMID:28337550|PMID:28492532|PMID:28693988|PMID:29294253|PMID:29396438|PMID:30197982|PMID:30293248|PMID:31130284|PMID:31279840|PMID:31555752|PMID:32071835|PMID:32439973|PMID:32481360|PMID:32943488|PMID:33473346|PMID:34356170|PMID:34445196 11676314 MMACHC metabolism of cobalamin associated C gene DOID:8501 fundus dystrophy ISO RGD:1601765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16311595|PMID:19370762|PMID:24210589|PMID:25398587|PMID:25741868|PMID:28492532|PMID:30197982|PMID:32071835|PMID:32481360|PMID:33473346 11676314 MMACHC metabolism of cobalamin associated C gene DOID:9263 homocystinuria ISO RGD:1601765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Homocystinuria PMID:11261516|PMID:16311595|PMID:16714133|PMID:17853453|PMID:18245139|PMID:19370762|PMID:19700356|PMID:25398587|PMID:25672861|PMID:25689098|PMID:25741868|PMID:26825575|PMID:26990548|PMID:28492532|PMID:34356170 11676322 ANP32B acidic nuclear phosphoprotein 32 family member B gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:731659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 11676322 ANP32B acidic nuclear phosphoprotein 32 family member B gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:731659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 11676322 ANP32B acidic nuclear phosphoprotein 32 family member B gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:731659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 11676322 ANP32B acidic nuclear phosphoprotein 32 family member B gene DOID:1059 intellectual disability ISO RGD:731659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11676322 ANP32B acidic nuclear phosphoprotein 32 family member B gene DOID:12712 nephronophthisis ISO RGD:731659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 11676322 ANP32B acidic nuclear phosphoprotein 32 family member B gene DOID:14004 thoracic aortic aneurysm ISO RGD:731659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:20813212|PMID:28492532 11676322 ANP32B acidic nuclear phosphoprotein 32 family member B gene DOID:630 genetic disease ISO RGD:731659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676322 ANP32B acidic nuclear phosphoprotein 32 family member B gene DOID:9000039 Spinal Cord Injuries ISO RGD:621285 D RGD:9068941 20200609 RGD PMID:25034417|REF_RGD_ID:10401137 11676322 ANP32B acidic nuclear phosphoprotein 32 family member B gene DOID:9001793 Generalized Epilepsy ISO RGD:731659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 11676333 MRPL23 mitochondrial ribosomal protein L23 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:68481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11676333 MRPL23 mitochondrial ribosomal protein L23 gene DOID:0080773 delta beta-thalassemia ISO RGD:68481 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11676333 MRPL23 mitochondrial ribosomal protein L23 gene DOID:0111969 immunodeficiency 39 ISO RGD:68481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11676333 MRPL23 mitochondrial ribosomal protein L23 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:68481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11676333 MRPL23 mitochondrial ribosomal protein L23 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:68481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11676333 MRPL23 mitochondrial ribosomal protein L23 gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:68481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome PMID:18836444 11676333 MRPL23 mitochondrial ribosomal protein L23 gene DOID:630 genetic disease ISO RGD:68481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676333 MRPL23 mitochondrial ribosomal protein L23 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:68481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11676333 MRPL23 mitochondrial ribosomal protein L23 gene DOID:9008576 Wilms Tumor 2 ISO RGD:68481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wilms tumor 2 PMID:18836444 11676344 ILKAP ILK associated serine/threonine phosphatase gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:731849 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11676344 ILKAP ILK associated serine/threonine phosphatase gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:731849 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11676344 ILKAP ILK associated serine/threonine phosphatase gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:731849 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11676344 ILKAP ILK associated serine/threonine phosphatase gene DOID:1059 intellectual disability ISO RGD:731849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11676344 ILKAP ILK associated serine/threonine phosphatase gene DOID:630 genetic disease ISO RGD:731849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676344 ILKAP ILK associated serine/threonine phosphatase gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:731849 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11676361 TNFSF4 TNF superfamily member 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:1345164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 11676361 TNFSF4 TNF superfamily member 4 gene DOID:14557 primary pulmonary hypertension ISO RGD:733125 D RGD:9068941 20220825 MouseDO OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 11676361 TNFSF4 TNF superfamily member 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1345164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11676361 TNFSF4 TNF superfamily member 4 gene DOID:3744 cervical squamous cell carcinoma severity ISO RGD:1345164 D RGD:9068941 20200807 RGD PMID:28086903|REF_RGD_ID:38455996 11676361 TNFSF4 TNF superfamily member 4 gene DOID:3755 antithrombin III deficiency ISO RGD:1345164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 11676361 TNFSF4 TNF superfamily member 4 gene DOID:5844 myocardial infarction ISO RGD:1345164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11676361 TNFSF4 TNF superfamily member 4 gene DOID:5844 myocardial infarction ISO RGD:1345164 D RGD:9068941 20200609 RGD PMID:15750594|REF_RGD_ID:1580396 11676361 TNFSF4 TNF superfamily member 4 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1345164 D RGD:7240710 20190502 OMIM 11676361 TNFSF4 TNF superfamily member 4 gene DOID:630 genetic disease ISO RGD:1345164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676361 TNFSF4 TNF superfamily member 4 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1345164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 11676361 TNFSF4 TNF superfamily member 4 gene DOID:820 myocarditis ISO RGD:1345164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 11676361 TNFSF4 TNF superfamily member 4 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1345164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 11676361 TNFSF4 TNF superfamily member 4 gene DOID:9065 leishmaniasis ISO RGD:1345164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10637281 11676361 TNFSF4 TNF superfamily member 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:1345164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18059267|PMID:19838193 11676361 TNFSF4 TNF superfamily member 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11676361 TNFSF4 TNF superfamily member 4 gene DOID:934 viral infectious disease ISO RGD:1345164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 11676361 TNFSF4 TNF superfamily member 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:733125 D RGD:9068941 20220825 MouseDO OMIM:222100 11676387 LY6G5C lymphocyte antigen 6 family member G5C gene DOID:0050553 JMP syndrome ISO RGD:1346509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11676387 LY6G5C lymphocyte antigen 6 family member G5C gene DOID:11372 megacolon ISO RGD:1346509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11676387 LY6G5C lymphocyte antigen 6 family member G5C gene DOID:630 genetic disease ISO RGD:1346509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676399 SLC39A5 solute carrier family 39 member 5 gene DOID:630 genetic disease ISO RGD:1321159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676399 SLC39A5 solute carrier family 39 member 5 gene DOID:9008442 Myopia 24, Autosomal Dominant ISO RGD:1321159 D RGD:7240710 20180130 OMIM 11676399 SLC39A5 solute carrier family 39 member 5 gene DOID:9008442 Myopia 24, Autosomal Dominant ISO RGD:1321159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia 24, autosomal dominant PMID:24891338|PMID:25741868 11676420 PDE8B phosphodiesterase 8B gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:1348334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18272904 11676420 PDE8B phosphodiesterase 8B gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1348334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 11676420 PDE8B phosphodiesterase 8B gene DOID:1289 neurodegenerative disease ISO RGD:1348334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20085714 11676420 PDE8B phosphodiesterase 8B gene DOID:630 genetic disease ISO RGD:1348334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11676420 PDE8B phosphodiesterase 8B gene DOID:679 basal ganglia disease ISO RGD:1348334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20085714 11676420 PDE8B phosphodiesterase 8B gene DOID:9001480 Muscle Rigidity ISO RGD:1348334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20085714 11676420 PDE8B phosphodiesterase 8B gene DOID:9001722 Dysarthria ISO RGD:1348334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20085714 11676420 PDE8B phosphodiesterase 8B gene DOID:9002743 Striatal Degeneration, Autosomal Dominant 1 ISO RGD:1348334 D RGD:7240710 20180130 OMIM 11676420 PDE8B phosphodiesterase 8B gene DOID:9002743 Striatal Degeneration, Autosomal Dominant 1 ISO RGD:1348334 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Striatal degeneration, autosomal dominant 1 PMID:24033266|PMID:25741868|PMID:26475694|PMID:26769607|PMID:28492532 11676420 PDE8B phosphodiesterase 8B gene DOID:9002955 Nerve Degeneration ISO RGD:1348334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Striatal Degeneration 11676420 PDE8B phosphodiesterase 8B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11676420 PDE8B phosphodiesterase 8B gene DOID:9005327 Primary Pigmented Nodular Adrenocortical Disease, 3 ISO RGD:1348334 D RGD:7240710 20180130 OMIM 11676420 PDE8B phosphodiesterase 8B gene DOID:9005327 Primary Pigmented Nodular Adrenocortical Disease, 3 ISO RGD:1348334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 3 PMID:18272904 11676420 PDE8B phosphodiesterase 8B gene DOID:9006845 Striatal Degeneration, Autosomal Dominant ISO RGD:1348334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11676452 MPPE1 metallophosphoesterase 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1319383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11676452 MPPE1 metallophosphoesterase 1 gene DOID:1059 intellectual disability ISO RGD:1319383 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11676452 MPPE1 metallophosphoesterase 1 gene DOID:543 dystonia ISO RGD:1319383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 11676452 MPPE1 metallophosphoesterase 1 gene DOID:630 genetic disease ISO RGD:1319383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676477 HDDC3 HD domain containing 3 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1606390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 11676477 HDDC3 HD domain containing 3 gene DOID:2717 Bloom syndrome ISO RGD:1606390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11676477 HDDC3 HD domain containing 3 gene DOID:630 genetic disease ISO RGD:1606390 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676488 TRIM59 tripartite motif containing 59 gene DOID:630 genetic disease ISO RGD:1349912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676488 TRIM59 tripartite motif containing 59 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11676495 ALLC allantoicase gene DOID:630 genetic disease ISO RGD:736731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676516 DEFB1 defensin beta 1 gene DOID:10754 otitis media ISO RGD:8967243 D RGD:9068941 20200609 RGD PMID:22072973|REF_RGD_ID:11554036 11676516 DEFB1 defensin beta 1 gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:737379 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:17000097|REF_RGD_ID:4892262 11676516 DEFB1 defensin beta 1 gene DOID:13406 pulmonary sarcoidosis ISO RGD:737379 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17000097|REF_RGD_ID:4892262 11676516 DEFB1 defensin beta 1 gene DOID:2773 contact dermatitis ISO RGD:737379 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11676516 DEFB1 defensin beta 1 gene DOID:2841 asthma ISO RGD:737379 D RGD:9068941 20200609 RGD DNA:SNPs:5' utr:g.-52G>A, g.-44C>G, g.-20G>A (human) PMID:16435024|REF_RGD_ID:4892254 11676516 DEFB1 defensin beta 1 gene DOID:2841 asthma susceptibility ISO RGD:737379 D RGD:9068941 20200609 RGD DNA:SNP: :-1816 T>C (human) PMID:15696078|REF_RGD_ID:4892263 11676516 DEFB1 defensin beta 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737379 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:11829455|REF_RGD_ID:1331523 11676516 DEFB1 defensin beta 1 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:737379 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:16700921|REF_RGD_ID:4892251 11676516 DEFB1 defensin beta 1 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:737379 D RGD:9068941 20200609 RGD DNA:polymorphism: :668C>G (human) PMID:15569478|REF_RGD_ID:4892257 11676516 DEFB1 defensin beta 1 gene DOID:3770 pulmonary fibrosis ISO RGD:737379 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17000097|REF_RGD_ID:4892262 11676516 DEFB1 defensin beta 1 gene DOID:552 pneumonia ISO RGD:737379 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17000097|REF_RGD_ID:4892262 11676516 DEFB1 defensin beta 1 gene DOID:630 genetic disease ISO RGD:737379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676516 DEFB1 defensin beta 1 gene DOID:850 lung disease disease_progression ISO RGD:737379 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;protein:decreased expression:respiratory system fluid/secretion PMID:15463886|REF_RGD_ID:4892259 11676516 DEFB1 defensin beta 1 gene DOID:850 lung disease severity ISO RGD:737379 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:SNP:5' utr:c.-20G>A (human) PMID:21077791|REF_RGD_ID:4892247 11676516 DEFB1 defensin beta 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737379 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11676516 DEFB1 defensin beta 1 gene DOID:9005446 Mandibular Neoplasms ISO RGD:737379 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:11934727|REF_RGD_ID:4892265 11676516 DEFB1 defensin beta 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619943 D RGD:9068941 20200609 RGD PMID:16740310|REF_RGD_ID:2312491 11676516 DEFB1 defensin beta 1 gene DOID:9007041 Actinobacillus Infections ISO RGD:619943 D RGD:9068941 20200609 RGD mRNA:increased expression:gingival epithelium PMID:17076783|REF_RGD_ID:4892269 11676516 DEFB1 defensin beta 1 gene DOID:9007417 Pseudomonas Infections no_association ISO RGD:737379 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:SNPs:5' utr, intron, 3' utr:multiple (human) PMID:15820309|REF_RGD_ID:4892256 11676516 DEFB1 defensin beta 1 gene DOID:9007417 Pseudomonas Infections no_association ISO RGD:737379 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:SNPs:5' utr:g.-52G>A, g.-44C>G, g.-20G>A (human) PMID:20193032|REF_RGD_ID:4892248 11676516 DEFB1 defensin beta 1 gene DOID:9007417 Pseudomonas Infections susceptibility ISO RGD:737379 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:SNPs:5' utr:g.-52G>A, g.-44C>G, g.-20G>A (human) PMID:17960157|REF_RGD_ID:4892250 11676516 DEFB1 defensin beta 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:619943 D RGD:9068941 20200609 RGD PMID:14521940|REF_RGD_ID:4892271 11676516 DEFB1 defensin beta 1 gene DOID:9675 pulmonary emphysema ISO RGD:732690 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:18699806|REF_RGD_ID:4892249 11676516 DEFB1 defensin beta 1 gene DOID:9970 obesity ISO RGD:619943 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:11340353|REF_RGD_ID:4892260 11676522 ZNF524 zinc finger protein 524 gene DOID:630 genetic disease ISO RGD:1351738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676529 AFP alpha fetoprotein gene DOID:10283 prostate cancer ISO RGD:736278 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17932343|REF_RGD_ID:2292038 11676529 AFP alpha fetoprotein gene DOID:1380 endometrial cancer severity ISO RGD:736278 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17659325|REF_RGD_ID:2292039 11676529 AFP alpha fetoprotein gene DOID:1883 hepatitis C treatment ISO RGD:736278 D RGD:9068941 20210430 RGD PMID:25914481|REF_RGD_ID:126790581 11676529 AFP alpha fetoprotein gene DOID:1911 endodermal sinus tumor ISO RGD:736278 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17525908|REF_RGD_ID:2292040 11676529 AFP alpha fetoprotein gene DOID:2237 hepatitis ISO RGD:2065 D RGD:9068941 20210430 RGD protein:increased expression:serum, liver oval cell PMID:2459091|REF_RGD_ID:126848736 11676529 AFP alpha fetoprotein gene DOID:3305 teratocarcinoma ISO RGD:736278 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:68943|REF_RGD_ID:2292041 11676529 AFP alpha fetoprotein gene DOID:3308 embryonal carcinoma ISO RGD:736278 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:68943|REF_RGD_ID:2292041 11676529 AFP alpha fetoprotein gene DOID:409 liver disease ISO RGD:736278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16965562 11676529 AFP alpha fetoprotein gene DOID:4450 renal cell carcinoma ISO RGD:736278 D RGD:9068941 20200609 RGD PMID:1714107|REF_RGD_ID:2292042 11676529 AFP alpha fetoprotein gene DOID:5426 primary ovarian insufficiency ISO RGD:736278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11676529 AFP alpha fetoprotein gene DOID:630 genetic disease ISO RGD:736278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676529 AFP alpha fetoprotein gene DOID:684 hepatocellular carcinoma ISO RGD:736278 D RGD:9068941 20210528 RGD protein:increased expression:serum (human) PMID:22392353|REF_RGD_ID:125097525 11676529 AFP alpha fetoprotein gene DOID:684 hepatocellular carcinoma ISO RGD:736278 D RGD:9068941 20210813 CTD CTD Direct Evidence: marker/mechanism PMID:15276417|PMID:24012840|PMID:28284560|PMID:32961231|PMID:9029167 11676529 AFP alpha fetoprotein gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736278 D RGD:9068941 20210430 RGD PMID:28611981|REF_RGD_ID:126790579 11676529 AFP alpha fetoprotein gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736278 D RGD:9068941 20210430 RGD associated with hepatitis B PMID:25968302|REF_RGD_ID:126790583 11676529 AFP alpha fetoprotein gene DOID:684 hepatocellular carcinoma severity ISO RGD:736278 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:22147961|REF_RGD_ID:14401581 11676529 AFP alpha fetoprotein gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2065 D RGD:9068941 20220520 RGD PMID:25999787|REF_RGD_ID:152177911 11676529 AFP alpha fetoprotein gene DOID:9000217 Stomach Neoplasms ISO RGD:736278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23382965 11676529 AFP alpha fetoprotein gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:736278 D RGD:9068941 20200609 RGD PMID:18203521|REF_RGD_ID:2292037 11676529 AFP alpha fetoprotein gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:736278 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11676529 AFP alpha fetoprotein gene DOID:9001493 Alpha-Fetoprotein Deficiency ISO RGD:736278 D RGD:7240710 20180130 OMIM 11676529 AFP alpha fetoprotein gene DOID:9001493 Alpha-Fetoprotein Deficiency ISO RGD:736278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-fetoprotein deficiency PMID:18854864 11676529 AFP alpha fetoprotein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 11676529 AFP alpha fetoprotein gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2065 D RGD:9068941 20220331 RGD PMID:30346985|REF_RGD_ID:151665755 11676529 AFP alpha fetoprotein gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736278 D RGD:9068941 20210813 CTD CTD Direct Evidence: marker/mechanism PMID:24012840|PMID:32961231 11676529 AFP alpha fetoprotein gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736278 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16322315 11676529 AFP alpha fetoprotein gene DOID:9007456 Female Infertility ISO RGD:10116 D RGD:9068941 20200609 RGD PMID:12297623|REF_RGD_ID:1300268 11676529 AFP alpha fetoprotein gene DOID:9007967 Alpha-Fetoprotein, Hereditary Persistence of ISO RGD:736278 D RGD:7240710 20221221 OMIM 11676529 AFP alpha fetoprotein gene DOID:9007967 Alpha-Fetoprotein, Hereditary Persistence of ISO RGD:736278 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alpha-fetoprotein, hereditary persistence of PMID:14699509|PMID:7684942 11676529 AFP alpha fetoprotein gene DOID:9008939 Breast Neoplasms ISO RGD:736278 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18497072 11676548 CSTB cystatin B gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:735434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 11676548 CSTB cystatin B gene DOID:0110266 cataract 9 multiple types ISO RGD:735434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11676548 CSTB cystatin B gene DOID:0111452 progressive myoclonus epilepsy 1A ISO RGD:735434 D RGD:7240710 20191106 OMIM 11676548 CSTB cystatin B gene DOID:1059 intellectual disability ISO RGD:735434 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:15329070|PMID:15483648|PMID:16155205|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22936898|PMID:25741868|PMID:26843564|PMID:28492532|PMID:29358611|PMID:8596935|PMID:9054946|PMID:9342192 11676548 CSTB cystatin B gene DOID:1059 intellectual disability ISO RGD:735434 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:15329070|PMID:15483648|PMID:16155205|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22936898|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:29358611|PMID:8596935|PMID:9054946|PMID:9342192 11676548 CSTB cystatin B gene DOID:10907 microcephaly ISO RGD:735434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Progressive microcephaly PMID:15329070|PMID:15483648|PMID:16155205|PMID:17003839|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22936898|PMID:23205931|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:29358611|PMID:32581362|PMID:8596935|PMID:9012407|PMID:9054946|PMID:9342192|PMID:9360639 11676548 CSTB cystatin B gene DOID:11832 visual epilepsy ISO RGD:735434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26467025|PMID:28492532 11676548 CSTB cystatin B gene DOID:12849 autistic disorder ISO RGD:735434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11676548 CSTB cystatin B gene DOID:3068 glioblastoma ISO RGD:735434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22287159 11676548 CSTB cystatin B gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:735434 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:15329070|PMID:15483648|PMID:16155205|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22936898|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:29358611|PMID:8596935|PMID:9054946|PMID:9342192 11676548 CSTB cystatin B gene DOID:3535 Unverricht-Lundborg syndrome ISO RGD:735434 D RGD:7240710 20191113 OMIM 11676548 CSTB cystatin B gene DOID:3535 Unverricht-Lundborg syndrome ISO RGD:735434 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Unverricht-Lundborg syndrome PMID:11814737|PMID:15329070|PMID:15483648|PMID:16155205|PMID:17003839|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22154554|PMID:22936898|PMID:23205931|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:29358611|PMID:32581362|PMID:8596935|PMID:9012407|PMID:9054946|PMID:9342192|PMID:9360639 11676548 CSTB cystatin B gene DOID:3565 meningioma ISO RGD:735434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19747051 11676548 CSTB cystatin B gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:735434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 11676548 CSTB cystatin B gene DOID:543 dystonia ISO RGD:735434 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:15329070|PMID:15483648|PMID:16155205|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22936898|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:29358611|PMID:8596935|PMID:9054946|PMID:9342192 11676548 CSTB cystatin B gene DOID:630 genetic disease ISO RGD:735434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15483648|PMID:17003839|PMID:17217964|PMID:23091450|PMID:23205931|PMID:2347312|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:32581362|PMID:8596935|PMID:9012407|PMID:9054946|PMID:9360639 11676548 CSTB cystatin B gene DOID:891 progressive myoclonus epilepsy ISO RGD:735434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:15329070|PMID:15483648|PMID:16155205|PMID:17003839|PMID:17576681|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22936898|PMID:23091450|PMID:23205931|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:29358611|PMID:32581362|PMID:8596935|PMID:9012407|PMID:9054946|PMID:9342192|PMID:9360639|PMID:9536098 11676548 CSTB cystatin B gene DOID:9002801 Recurrence ISO RGD:735434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19747051 11676548 CSTB cystatin B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11676548 CSTB cystatin B gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19747051|PMID:22287159 11676548 CSTB cystatin B gene DOID:9005154 Myoclonic Epilepsies ISO RGD:735434 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoclonus epilepsy PMID:15329070|PMID:15483648|PMID:16155205|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22936898|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:29358611|PMID:8596935|PMID:9054946|PMID:9342192 11676548 CSTB cystatin B gene DOID:9008675 Dyskinesias ISO RGD:735434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyskinesia PMID:15329070|PMID:15483648|PMID:16155205|PMID:17003839|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22936898|PMID:23205931|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:29358611|PMID:32581362|PMID:8596935|PMID:9012407|PMID:9054946|PMID:9342192|PMID:9360639 11676548 CSTB cystatin B gene DOID:9263 homocystinuria ISO RGD:735434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11676548 CSTB cystatin B gene DOID:9562 primary ciliary dyskinesia ISO RGD:735434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11676555 BNIP1 BCL2 interacting protein 1 gene DOID:0110112 atrial heart septal defect 7 ISO RGD:732440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 11676555 BNIP1 BCL2 interacting protein 1 gene DOID:14250 Down syndrome ISO RGD:732440 D RGD:9068941 20200609 RGD mRNA:decreased expression:amniotic fluid cell: PMID:15716609|REF_RGD_ID:14398459 11676555 BNIP1 BCL2 interacting protein 1 gene DOID:14789 spondyloepiphyseal dysplasia congenita ISO RGD:732440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita PMID:25741868 11676555 BNIP1 BCL2 interacting protein 1 gene DOID:630 genetic disease ISO RGD:732440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676555 BNIP1 BCL2 interacting protein 1 gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:732440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 11676565 TMEM179B transmembrane protein 179B gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1601691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11676565 TMEM179B transmembrane protein 179B gene DOID:1059 intellectual disability ISO RGD:1601691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11676565 TMEM179B transmembrane protein 179B gene DOID:630 genetic disease ISO RGD:1601691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676572 APLP1 amyloid beta precursor like protein 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:736696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11676572 APLP1 amyloid beta precursor like protein 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:736696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11676572 APLP1 amyloid beta precursor like protein 1 gene DOID:630 genetic disease ISO RGD:736696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676597 HK2 hexokinase 2 gene DOID:3910 lung adenocarcinoma ISO RGD:733090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11676597 HK2 hexokinase 2 gene DOID:630 genetic disease ISO RGD:733090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676597 HK2 hexokinase 2 gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:2797 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cardiac ventricle PMID:24525799|REF_RGD_ID:11353961 11676597 HK2 hexokinase 2 gene DOID:9006205 Animal Disease Models ISO RGD:733090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11676597 HK2 hexokinase 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:733090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11676597 HK2 hexokinase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733090 D RGD:9068941 20200609 RGD PMID:11319725|REF_RGD_ID:2313227 11676597 HK2 hexokinase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735576 D RGD:9068941 20200609 RGD mRNA:decreased expression:epididymal fat pad, quadriceps PMID:7813813|REF_RGD_ID:2313229 11676597 HK2 hexokinase 2 gene DOID:9970 obesity ISO RGD:2797 D RGD:9068941 20200609 RGD mRNA:increased expression:gastrocnemius PMID:16555472|REF_RGD_ID:1624365 11676597 HK2 hexokinase 2 gene DOID:9970 obesity ISO RGD:733090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 11676597 HK2 hexokinase 2 gene DOID:9970 obesity ISO RGD:733090 D RGD:9068941 20200609 RGD PMID:11319725|REF_RGD_ID:2313227 11676622 NMRAL1 NmrA like redox sensor 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1603207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11676622 NMRAL1 NmrA like redox sensor 1 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1603207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 11676622 NMRAL1 NmrA like redox sensor 1 gene DOID:1826 epilepsy ISO RGD:1603207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11676622 NMRAL1 NmrA like redox sensor 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603207 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11676622 NMRAL1 NmrA like redox sensor 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1603207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 11676622 NMRAL1 NmrA like redox sensor 1 gene DOID:630 genetic disease ISO RGD:1603207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676629 VCL vinculin gene DOID:0050700 cardiomyopathy ISO RGD:1322560 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:15331426|PMID:15769782|PMID:16236538|PMID:16712796|PMID:16783378|PMID:17785437|PMID:20301718|PMID:22421524|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25332820|PMID:25351510|PMID:25741868|PMID:26191084|PMID:26458567|PMID:26656175|PMID:27532257|PMID:27930701|PMID:28087426|PMID:28492532|PMID:28771489|PMID:29247119|PMID:29255176|PMID:29875424|PMID:30847666|PMID:31513939|PMID:31737537|PMID:31983221|PMID:32516855|PMID:33012304|PMID:33302605 11676629 VCL vinculin gene DOID:0060041 autism spectrum disorder ISO RGD:1322560 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11676629 VCL vinculin gene DOID:0060319 cardiac arrest ISO RGD:1322560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:25741868|PMID:28492532 11676629 VCL vinculin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1322560 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:20474083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26656175|PMID:28492532|PMID:30847666|PMID:31983221|PMID:32880476 11676629 VCL vinculin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1322560 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:20474083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26656175|PMID:28492532|PMID:30847666|PMID:31983221|PMID:32880476 11676629 VCL vinculin gene DOID:0110321 hypertrophic cardiomyopathy 15 ISO RGD:1322560 D RGD:7240710 20180130 OMIM 11676629 VCL vinculin gene DOID:0110321 hypertrophic cardiomyopathy 15 ISO RGD:1322560 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 15 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 15 PMID:11815424|PMID:16236538|PMID:16712796|PMID:16949038|PMID:17097056|PMID:22421524|PMID:23159629|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24062880|PMID:24227891|PMID:24503780|PMID:25299611|PMID:25332820|PMID:25351510|PMID:25741868|PMID:26458567|PMID:26735901|PMID:27503891|PMID:27532257|PMID:27930701|PMID:28087426|PMID:28492532|PMID:28771489|PMID:29255176|PMID:29875424|PMID:30847666|PMID:31513939|PMID:31737537|PMID:31983221|PMID:32516855|PMID:32880476|PMID:33012304|PMID:33302605|PMID:33500567 11676629 VCL vinculin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1322560 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:15769782|PMID:16236538|PMID:16712796|PMID:17785437|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26191084|PMID:27930701|PMID:28492532|PMID:28771489|PMID:29875424|PMID:31513939 11676629 VCL vinculin gene DOID:0110446 dilated cardiomyopathy 1W ISO RGD:1322560 D RGD:7240710 20180130 OMIM 11676629 VCL vinculin gene DOID:0110446 dilated cardiomyopathy 1W ISO RGD:1322560 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:11815424|PMID:15331426|PMID:15769782|PMID:16199547|PMID:16236538|PMID:16712796|PMID:16783378|PMID:16949038|PMID:17097056|PMID:17576681|PMID:17785437|PMID:20301718|PMID:20474083|PMID:21681106|PMID:22421524|PMID:23159629|PMID:23299917|PMID:23396983|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24062880|PMID:24227891|PMID:24503780|PMID:25163546|PMID:25299611|PMID:25332820|PMID:25351510|PMID:25500949|PMID:25741868|PMID:26191084|PMID:26458567|PMID:26656175|PMID:26735901|PMID:26776555|PMID:27503891|PMID:27532257|PMID:27930701|PMID:27957775|PMID:28087426|PMID:28087566|PMID:28218286|PMID:28492532|PMID:28611029|PMID:28771489|PMID:29247119|PMID:29255176|PMID:29875424|PMID:30847666|PMID:30923642|PMID:31513939|PMID:31737537|PMID:31983221|PMID:32516855|PMID:32880476|PMID:33012304|PMID:33302605|PMID:33500567|PMID:9536098 11676629 VCL vinculin gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1322560 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:24033266|PMID:24062880|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30847666|PMID:32880476 11676629 VCL vinculin gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1322560 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy 1 PMID:16783378|PMID:20301718|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 11676629 VCL vinculin gene DOID:10487 Hirschsprung's disease ISO RGD:1322560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirschsprung disease PMID:24033266|PMID:25741868|PMID:28492532 11676629 VCL vinculin gene DOID:11476 osteoporosis ISO RGD:1322560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 11676629 VCL vinculin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1322560 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:16712796|PMID:23299917|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27930701|PMID:28492532|PMID:28771489|PMID:29255176|PMID:29875424|PMID:30847666|PMID:31513939|PMID:33012304 11676629 VCL vinculin gene DOID:12930 dilated cardiomyopathy ISO RGD:1322560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11815424|PMID:16949038|PMID:17785437|PMID:20474083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26656175|PMID:26735901|PMID:27532257|PMID:28492532|PMID:30923642 11676629 VCL vinculin gene DOID:12930 dilated cardiomyopathy ISO RGD:1322560 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11815424|PMID:16949038|PMID:17785437|PMID:20474083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26656175|PMID:26735901|PMID:27532257|PMID:28492532|PMID:30923642|PMID:32516855 11676629 VCL vinculin gene DOID:12930 dilated cardiomyopathy ISO RGD:1322560 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11815424|PMID:16783378|PMID:16949038|PMID:17785437|PMID:20301718|PMID:20474083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25741868|PMID:26191084|PMID:26656175|PMID:26735901|PMID:27532257|PMID:28492532|PMID:30923642|PMID:32516855 11676629 VCL vinculin gene DOID:2843 long QT syndrome ISO RGD:1322560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11676629 VCL vinculin gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1322560 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532 11676629 VCL vinculin gene DOID:6000 congestive heart failure ISO RGD:1322560 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:24033266|PMID:25741868|PMID:28492532|PMID:33500567 11676629 VCL vinculin gene DOID:630 genetic disease ISO RGD:1322560 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11676629 VCL vinculin gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1322560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with left ventricular noncompaction PMID:11815424|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532 11676629 VCL vinculin gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1322560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 11676629 VCL vinculin gene DOID:9005141 Ventricular Tachycardia ISO RGD:1322560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:17785437|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26191084|PMID:28492532 11676629 VCL vinculin gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1322560 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:28492532 11676629 VCL vinculin gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:1322560 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 11676658 PDCD2L programmed cell death 2 like gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1601844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11676658 PDCD2L programmed cell death 2 like gene DOID:630 genetic disease ISO RGD:1601844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676669 LOC100987402 zinc finger protein 426 gene DOID:12849 autistic disorder ISO RGD:1318534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11676669 LOC100987402 zinc finger protein 426 gene DOID:630 genetic disease ISO RGD:1318534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676688 RARG retinoic acid receptor gamma gene DOID:0060673 Peters anomaly ISO RGD:735465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:26893459 11676688 RARG retinoic acid receptor gamma gene DOID:114 heart disease ISO RGD:735465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26237429 11676688 RARG retinoic acid receptor gamma gene DOID:630 genetic disease ISO RGD:735465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676688 RARG retinoic acid receptor gamma gene DOID:674 cleft palate ISO RGD:735465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21807577 11676688 RARG retinoic acid receptor gamma gene DOID:9002371 Cardiotoxicity ISO RGD:735465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26237429 11676688 RARG retinoic acid receptor gamma gene DOID:9005004 Musculoskeletal Abnormalities ISO RGD:735465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9142499 11676726 DLGAP5 DLG associated protein 5 gene DOID:0080600 COVID-19 ISO RGD:1322602 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11676726 DLGAP5 DLG associated protein 5 gene DOID:630 genetic disease ISO RGD:1322602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676726 DLGAP5 DLG associated protein 5 gene DOID:684 hepatocellular carcinoma ISO RGD:1322602 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11676761 SMIM8 small integral membrane protein 8 gene DOID:630 genetic disease ISO RGD:1313022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676772 TTC39A tetratricopeptide repeat domain 39A gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1322418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 11676772 TTC39A tetratricopeptide repeat domain 39A gene DOID:630 genetic disease ISO RGD:1322418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676772 TTC39A tetratricopeptide repeat domain 39A gene DOID:9007188 Liver Neoplasms ISO RGD:1322418 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17114358 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:0050908 myelodysplastic syndrome susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:polymorphism: :66A>G(human) PMID:18774170|REF_RGD_ID:11075096 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:0060060 non-Hodgkin lymphoma susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:polymorphism: :66A>G(human) PMID:15159311|REF_RGD_ID:11531140 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:0060668 anencephaly susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:point mutation:intron:c.-26+755C>A (rs326119) (human) PMID:26045171|REF_RGD_ID:11098877 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:0080016 spina bifida ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:polymorphism: :66A>G(human) PMID:12375236|REF_RGD_ID:1302512 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:0080016 spina bifida susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:polymorphism: :66A>G(human) PMID:12590188|REF_RGD_ID:5508199 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:0112255 homocystinuria-megaloblastic anemia cblE type ISO RGD:1318580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylcobalamin deficiency type cblE PMID:10444342|PMID:10484769|PMID:10500018|PMID:10930360|PMID:12375236|PMID:12555939|PMID:12923861|PMID:12971424|PMID:15292234|PMID:15494741|PMID:15714522|PMID:15979034|PMID:16199547|PMID:17576681|PMID:20120036|PMID:22887477|PMID:24033266|PMID:25227144|PMID:25526710|PMID:25741868|PMID:25978498|PMID:28492532|PMID:2860337|PMID:30041674|PMID:31063268|PMID:6700644|PMID:9501215|PMID:9536098 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:0112255 homocystinuria-megaloblastic anemia cblE type susceptibility ISO RGD:1318580 D RGD:7240710 20230505 OMIM 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:114 heart disease ISO RGD:1318580 D RGD:9068941 20200609 RGD PMID:15612980|REF_RGD_ID:1581051 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:12336 male infertility ISO RGD:1318580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16861746 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:14250 Down syndrome ISO RGD:1318580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Down syndrome, susceptibility to PMID:10444342|PMID:10500018|PMID:10930360|PMID:12375236|PMID:12923861|PMID:15979034|PMID:25227144|PMID:25741868|PMID:28492532|PMID:9501215 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:polymorphism: :1049A>G (human) PMID:21070756|REF_RGD_ID:5508183 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:1681 heart septal defect ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs326119(human) PMID:22179537|REF_RGD_ID:7244247 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:1793 pancreatic cancer ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:polymorphism: :66A>G (human) PMID:18843018|REF_RGD_ID:2317118 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:SNPs:intron, exon:rs162049, p.H595Y (rs10380) (human) PMID:18515090|REF_RGD_ID:2325772 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:3565 meningioma susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:SNP: :66A>G, (rs1801394) (human) PMID:18483342|REF_RGD_ID:5508186 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:630 genetic disease ISO RGD:1318580 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12555939|PMID:15714522|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:655 inherited metabolic disorder ISO RGD:1318580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:10444342|PMID:10484769|PMID:10500018|PMID:10930360|PMID:12375236|PMID:12555939|PMID:12923861|PMID:12971424|PMID:15292234|PMID:15494741|PMID:15714522|PMID:15979034|PMID:20120036|PMID:22887477|PMID:25227144|PMID:25741868|PMID:25978498|PMID:28492532|PMID:9501215 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:657 adenoma ISO RGD:1318580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17389618 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:SNP: :66A>G(human) PMID:19035314|REF_RGD_ID:14696707 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:8577 ulcerative colitis susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:polymorphism: :66A>G (human) PMID:21947961|REF_RGD_ID:5508217 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:863 nervous system disease ISO RGD:1318580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9001989 Folate-Sensitive Neural Tube Defects ISO RGD:1318580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to PMID:10444342|PMID:10500018|PMID:10930360|PMID:12375236|PMID:12923861|PMID:15979034|PMID:25227144|PMID:25741868|PMID:28492532|PMID:9501215 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9001989 Folate-Sensitive Neural Tube Defects susceptibility ISO RGD:1318580 D RGD:7240710 20230505 OMIM 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9002165 Diabetic Nephropathies ISO RGD:1318580 D RGD:9068941 20200609 RGD Associated with Diabetes Mellitus, Type 1;DNA:SNP:cds:66A>G, (rs1801394) (human) PMID:18774994|REF_RGD_ID:6893652 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9006281 Temporomandibular Joint Disorders susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.I22M (rs1801394)(human) PMID:21615938|REF_RGD_ID:5490535 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1318580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16985020|PMID:17389618 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:polymorphism: :66A>G(human) PMID:18774170|REF_RGD_ID:11075096 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:10444342|PMID:10500018|PMID:10930360|PMID:12375236|PMID:12923861|PMID:15979034|PMID:25227144|PMID:25741868|PMID:28492532|PMID:9501215 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9263 homocystinuria ISO RGD:1318580 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Homocystinuria without methylmalonic aciduria PMID:10484769|PMID:15714522|PMID:24033266|PMID:25741868|PMID:28492532 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9279 hyperhomocysteinemia ISO RGD:1318580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16575899|PMID:17369066 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9538 multiple myeloma susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:polymorphism: :66G>A(human) PMID:17655928|REF_RGD_ID:11075095 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1318580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17136115 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:SNP: :rs3776455(human) PMID:23940529|REF_RGD_ID:11531135 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:haplotype:cds: PMID:17136115|REF_RGD_ID:11531133 11676843 PRAP1 proline rich acidic protein 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1354045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11676843 PRAP1 proline rich acidic protein 1 gene DOID:630 genetic disease ISO RGD:1354045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676865 FZD1 frizzled class receptor 1 gene DOID:3459 breast carcinoma ISO RGD:736261 D RGD:9068941 20200609 RGD protein:increased expression:tumor PMID:15492823|REF_RGD_ID:2298699 11676865 FZD1 frizzled class receptor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11676865 FZD1 frizzled class receptor 1 gene DOID:630 genetic disease ISO RGD:736261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676915 LILRB5 leukocyte immunoglobulin like receptor B5 gene DOID:0080600 COVID-19 ISO RGD:1351276 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11676915 LILRB5 leukocyte immunoglobulin like receptor B5 gene DOID:630 genetic disease ISO RGD:1351276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676915 LILRB5 leukocyte immunoglobulin like receptor B5 gene DOID:684 hepatocellular carcinoma ISO RGD:1351276 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11676943 GFER growth factor, augmenter of liver regeneration gene DOID:0050855 renal fibrosis treatment ISO RGD:736290 D RGD:9068941 20200609 RGD associated with ureteral obstruction PMID:24844766|REF_RGD_ID:13506791 11676943 GFER growth factor, augmenter of liver regeneration gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 11676943 GFER growth factor, augmenter of liver regeneration gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11676943 GFER growth factor, augmenter of liver regeneration gene DOID:1074 kidney failure treatment ISO RGD:736290 D RGD:9068941 20200609 RGD associated with liver transplant; PMID:18929838|REF_RGD_ID:9685774 11676943 GFER growth factor, augmenter of liver regeneration gene DOID:11383 cryptorchidism ISO RGD:61845 D RGD:9068941 20200609 RGD protein:decreased expression:male germ cell: PMID:17918708|REF_RGD_ID:9685739 11676943 GFER growth factor, augmenter of liver regeneration gene DOID:1826 epilepsy ISO RGD:736290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11676943 GFER growth factor, augmenter of liver regeneration gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11676943 GFER growth factor, augmenter of liver regeneration gene DOID:3021 acute kidney failure ISO RGD:61845 D RGD:9068941 20200609 RGD protein:increased expression:cortex of kidney,renal medulla: PMID:20030531|REF_RGD_ID:9685736 11676943 GFER growth factor, augmenter of liver regeneration gene DOID:3021 acute kidney failure ISO RGD:736290 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20030531 11676943 GFER growth factor, augmenter of liver regeneration gene DOID:3021 acute kidney failure treatment ISO RGD:61845 D RGD:9068941 20200609 RGD PMID:20030531|REF_RGD_ID:9685736 11676943 GFER growth factor, augmenter of liver regeneration gene DOID:5199 ureteral obstruction ISO RGD:61845 D RGD:9068941 20200609 RGD PMID:24844766|REF_RGD_ID:13506791 11676943 GFER growth factor, augmenter of liver regeneration gene DOID:630 genetic disease ISO RGD:736290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19409522|PMID:20593814|PMID:25269795|PMID:25326635|PMID:25741868|PMID:26018198|PMID:26944241|PMID:28155230|PMID:28492532|PMID:8627443 11676943 GFER growth factor, augmenter of liver regeneration gene DOID:700 mitochondrial metabolism disease ISO RGD:736290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:25741868|PMID:28812649 11676943 GFER growth factor, augmenter of liver regeneration gene DOID:9000238 Acute-On-Chronic Liver Failure disease_progression ISO RGD:736290 D RGD:9068941 20200609 RGD PMID:22246190|REF_RGD_ID:9685741 11676943 GFER growth factor, augmenter of liver regeneration gene DOID:9001708 Hemorrhagic Shock ISO RGD:62137 D RGD:9068941 20200609 RGD PMID:23073658|REF_RGD_ID:9685733 11676943 GFER growth factor, augmenter of liver regeneration gene DOID:9004283 Transplant Rejection ISO RGD:61845 D RGD:9068941 20200609 RGD PMID:22819311|REF_RGD_ID:9685732 11676943 GFER growth factor, augmenter of liver regeneration gene DOID:9004484 Sepsis ISO RGD:61845 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:23073658|REF_RGD_ID:9685733 11676943 GFER growth factor, augmenter of liver regeneration gene DOID:9004590 Acute Liver Failure ISO RGD:736290 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15968720 11676943 GFER growth factor, augmenter of liver regeneration gene DOID:9004590 Acute Liver Failure treatment ISO RGD:736290 D RGD:9068941 20200609 RGD PMID:23337881|REF_RGD_ID:9685775 11676943 GFER growth factor, augmenter of liver regeneration gene DOID:9004786 Carbon Tetrachloride Poisoning ISO RGD:736290 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15968720 11676943 GFER growth factor, augmenter of liver regeneration gene DOID:9005930 Endotoxemia ISO RGD:61845 D RGD:9068941 20200609 RGD PMID:23073658|REF_RGD_ID:9685733 11676943 GFER growth factor, augmenter of liver regeneration gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:61845 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:20332418|REF_RGD_ID:9685723 11676943 GFER growth factor, augmenter of liver regeneration gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:736290 D RGD:9068941 20200609 RGD PMID:20332418|REF_RGD_ID:9685723 11676943 GFER growth factor, augmenter of liver regeneration gene DOID:9007052 Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay ISO RGD:736290 D RGD:7240710 20180130 OMIM 11676943 GFER growth factor, augmenter of liver regeneration gene DOID:9007052 Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay ISO RGD:736290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX DEFICIENCY, COMBINED | ClinVar Annotator: match by term: Myopathy with cataract and combined respiratory-chain deficiency | ClinVar Annotator: match by term: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay PMID:16199547|PMID:18414213|PMID:19409522|PMID:20593814|PMID:25269795|PMID:25326635|PMID:25741868|PMID:26018198|PMID:26757139|PMID:26944241|PMID:28155230|PMID:28492532|PMID:28812649|PMID:28939701|PMID:8627443 11676943 GFER growth factor, augmenter of liver regeneration gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:61845 D RGD:9068941 20200609 RGD PMID:15968720|REF_RGD_ID:9685727 11676943 GFER growth factor, augmenter of liver regeneration gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:736290 D RGD:9068941 20200609 RGD PMID:22033404|REF_RGD_ID:9685722 11676943 GFER growth factor, augmenter of liver regeneration gene DOID:9008691 Liver Injury ISO RGD:61845 D RGD:9068941 20200609 RGD PMID:24880092|REF_RGD_ID:9685725 11676949 PAM peptidylglycine alpha-amidating monooxygenase gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:735807 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11676949 PAM peptidylglycine alpha-amidating monooxygenase gene DOID:1459 hypothyroidism ISO RGD:3252 D RGD:9068941 20200609 RGD mRNA:increased stability:pituitary gland PMID:8940376|REF_RGD_ID:2302427 11676949 PAM peptidylglycine alpha-amidating monooxygenase gene DOID:2030 anxiety disorder ISO RGD:735807 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19815072 11676949 PAM peptidylglycine alpha-amidating monooxygenase gene DOID:2526 prostate adenocarcinoma ISO RGD:735807 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland (human) PMID:11221851|REF_RGD_ID:6483769 11676949 PAM peptidylglycine alpha-amidating monooxygenase gene DOID:630 genetic disease ISO RGD:735807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11676949 PAM peptidylglycine alpha-amidating monooxygenase gene DOID:9002221 Hyperplasia ISO RGD:3252 D RGD:9068941 20200609 RGD protein:increased expression:lung, alveolus (rat) PMID:11742033|REF_RGD_ID:6483575 11676949 PAM peptidylglycine alpha-amidating monooxygenase gene DOID:9002457 Experimental Arthritis ISO RGD:3252 D RGD:9068941 20200609 RGD PMID:17138865|REF_RGD_ID:6483527 11676949 PAM peptidylglycine alpha-amidating monooxygenase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11676949 PAM peptidylglycine alpha-amidating monooxygenase gene DOID:9004756 Brain Hypoxia ISO RGD:3252 D RGD:9068941 20200609 RGD protein:increased activity:brain stem (rat) PMID:18818385|REF_RGD_ID:6483514 11676949 PAM peptidylglycine alpha-amidating monooxygenase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 11676949 PAM peptidylglycine alpha-amidating monooxygenase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735807 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11676949 PAM peptidylglycine alpha-amidating monooxygenase gene DOID:9352 type 2 diabetes mellitus ISO RGD:735807 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24464100|PMID:30054598 11676999 UTP18 UTP18 small subunit processome component gene DOID:630 genetic disease ISO RGD:1349005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11677017 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:0050771 pheochromocytoma ISO RGD:732223 D RGD:9068941 20200609 RGD PMID:25879199|REF_RGD_ID:13792787 11677017 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11677017 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:0060810 syndromic X-linked intellectual disability type 10 ISO RGD:732223 D RGD:7240710 20180130 OMIM 11677017 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:0060810 syndromic X-linked intellectual disability type 10 ISO RGD:732223 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHORIOATHETOSIS WITH MENTAL RETARDATION AND ABNORMAL BEHAVIOR | ClinVar Annotator: match by term: HSD10 mitochondrial disease | ClinVar Annotator: match by term: HSD17B10-Related Disorder PMID:10521307|PMID:11102558|PMID:12112118|PMID:12555940|PMID:12696021|PMID:12872843|PMID:15059617|PMID:15342248|PMID:16148061|PMID:16176262|PMID:17236142|PMID:17618155|PMID:18996107|PMID:20077426|PMID:22132097|PMID:23266819|PMID:24549042|PMID:25741868|PMID:26950678|PMID:28333917|PMID:28492532|PMID:31654490|PMID:34765396 11677017 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:732223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 11677017 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:0080600 COVID-19 ISO RGD:732223 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11677017 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:0112038 non-syndromic X-linked intellectual disability 1 ISO RGD:732223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 PMID:26059843|PMID:28492532 11677017 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:10652 Alzheimer's disease ISO RGD:1332361 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, neuron, mitochondria PMID:11869808|REF_RGD_ID:632866 11677017 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:10652 Alzheimer's disease ISO RGD:732223 D RGD:9068941 20200609 RGD protein:increased expression:brain (human) PMID:9338779|REF_RGD_ID:1358426 11677017 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:10652 Alzheimer's disease treatment ISO RGD:1332361 D RGD:9068941 20200609 RGD PMID:21307267|REF_RGD_ID:13792781 11677017 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:12849 autistic disorder ISO RGD:732223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11677017 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:14227 azoospermia ISO RGD:1332361 D RGD:9068941 20200609 RGD mRNA:increased expression:testis PMID:9851691|REF_RGD_ID:13792783 11677017 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:3347 osteosarcoma treatment ISO RGD:732223 D RGD:9068941 20200609 RGD PMID:19449377|REF_RGD_ID:13792789 11677017 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:3910 lung adenocarcinoma ISO RGD:732223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 11677017 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:607 paraplegia ISO RGD:732223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11677017 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:630 genetic disease ISO RGD:732223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15342248|PMID:25741868|PMID:28492532 11677017 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:9004603 Atkin Syndrome ISO RGD:732223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome PMID:26059843|PMID:28492532 11677027 TEPSIN TEPSIN adaptor related protein complex 4 accessory protein gene DOID:630 genetic disease ISO RGD:1601823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11677060 BCOR BCL6 corepressor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11677060 BCOR BCL6 corepressor gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1606540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 11677060 BCOR BCL6 corepressor gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1606540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 11677060 BCOR BCL6 corepressor gene DOID:0070338 cerebellar hypoplasia ISO RGD:1606540 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868 11677060 BCOR BCL6 corepressor gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1606540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma 11677060 BCOR BCL6 corepressor gene DOID:0111799 syndromic microphthalmia 1 ISO RGD:1606540 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microphthalmia, syndromic 1 PMID:24728327|PMID:25741868|PMID:28492532 11677060 BCOR BCL6 corepressor gene DOID:0111809 syndromic microphthalmia 2 ISO RGD:1606540 D RGD:7240710 20180130 OMIM 11677060 BCOR BCL6 corepressor gene DOID:0111809 syndromic microphthalmia 2 ISO RGD:1606540 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oculofaciocardiodental syndrome PMID:15004558|PMID:15770227|PMID:16199547|PMID:16829040|PMID:18414213|PMID:19367324|PMID:21740180|PMID:22983184|PMID:23815237|PMID:24728327|PMID:25326637|PMID:25620158|PMID:25741868|PMID:26694549|PMID:28166811|PMID:28317252|PMID:28492532|PMID:29974297|PMID:31048080 11677060 BCOR BCL6 corepressor gene DOID:10534 stomach cancer disease_progression ISO RGD:1606540 D RGD:9068941 20210903 RGD PMID:33145269|REF_RGD_ID:150340707 11677060 BCOR BCL6 corepressor gene DOID:1059 intellectual disability ISO RGD:1606540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11677060 BCOR BCL6 corepressor gene DOID:12849 autistic disorder ISO RGD:1606540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11677060 BCOR BCL6 corepressor gene DOID:13207 proliferative diabetic retinopathy susceptibility ISO RGD:1606540 D RGD:9068941 20221103 RGD associated with type 1 diabetes mellitus;DNA:hypomethylation:5'UTR PMID:26248552|REF_RGD_ID:155631276 11677060 BCOR BCL6 corepressor gene DOID:2154 nephroblastoma ISO RGD:1606540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 11677060 BCOR BCL6 corepressor gene DOID:216 dental caries susceptibility ISO RGD:1606540 D RGD:9068941 20221028 RGD DNA:SNP: : rs17145638(human) PMID:23470693|REF_RGD_ID:155631274 11677060 BCOR BCL6 corepressor gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:1606540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29376028 11677060 BCOR BCL6 corepressor gene DOID:3347 osteosarcoma ISO RGD:1606540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22387997 11677060 BCOR BCL6 corepressor gene DOID:4233 clear cell sarcoma ISO RGD:1606540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098867 11677060 BCOR BCL6 corepressor gene DOID:5517 stomach carcinoma disease_progression ISO RGD:1606540 D RGD:9068941 20210903 RGD PMID:27313181|REF_RGD_ID:150340706 11677060 BCOR BCL6 corepressor gene DOID:630 genetic disease ISO RGD:1606540 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24728327|PMID:25741868|PMID:26694549|PMID:28492532 11677060 BCOR BCL6 corepressor gene DOID:83 cataract ISO RGD:1606540 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:24728327|PMID:26694549|PMID:28492532 11677060 BCOR BCL6 corepressor gene DOID:9002265 Kidney Neoplasms ISO RGD:1606540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098867 11677060 BCOR BCL6 corepressor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11677060 BCOR BCL6 corepressor gene DOID:9119 acute myeloid leukemia ISO RGD:1606540 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 11677060 BCOR BCL6 corepressor gene DOID:9256 colorectal cancer treatment ISO RGD:1606540 D RGD:9068941 20210903 RGD PMID:27880939|REF_RGD_ID:150340704 11677060 BCOR BCL6 corepressor gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1606540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 11677099 CCT3 chaperonin containing TCP1 subunit 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1342982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11677099 CCT3 chaperonin containing TCP1 subunit 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1342982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11677099 CCT3 chaperonin containing TCP1 subunit 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1342982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11677099 CCT3 chaperonin containing TCP1 subunit 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1342982 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11677099 CCT3 chaperonin containing TCP1 subunit 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1342982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11677099 CCT3 chaperonin containing TCP1 subunit 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1342982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11677099 CCT3 chaperonin containing TCP1 subunit 3 gene DOID:5812 MHC class II deficiency ISO RGD:1342982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11677099 CCT3 chaperonin containing TCP1 subunit 3 gene DOID:630 genetic disease ISO RGD:1342982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11677099 CCT3 chaperonin containing TCP1 subunit 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1342982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11677099 CCT3 chaperonin containing TCP1 subunit 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1342982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11677117 MPEG1 macrophage expressed 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:736355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11677117 MPEG1 macrophage expressed 1 gene DOID:0111152 multicentric Castleman disease ISO RGD:736355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TAFRO syndrome 11677117 MPEG1 macrophage expressed 1 gene DOID:0111954 immunodeficiency 60 ISO RGD:736355 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 60 PMID:25741868 11677117 MPEG1 macrophage expressed 1 gene DOID:1059 intellectual disability ISO RGD:736355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11677117 MPEG1 macrophage expressed 1 gene DOID:630 genetic disease ISO RGD:736355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11677117 MPEG1 macrophage expressed 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736355 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 11677117 MPEG1 macrophage expressed 1 gene DOID:9001958 Immunodeficiency 77 ISO RGD:736355 D RGD:7240710 20210324 OMIM 11677117 MPEG1 macrophage expressed 1 gene DOID:9001958 Immunodeficiency 77 ISO RGD:736355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 77 PMID:25741868|PMID:28422754|PMID:33224153 11677127 JCAD junctional cadherin 5 associated gene DOID:3393 coronary artery disease ISO RGD:1346091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378988 11677127 JCAD junctional cadherin 5 associated gene DOID:630 genetic disease ISO RGD:1346091 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11677134 CREBZF CREB/ATF bZIP transcription factor gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1603614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 11677134 CREBZF CREB/ATF bZIP transcription factor gene DOID:1059 intellectual disability ISO RGD:1603614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11677134 CREBZF CREB/ATF bZIP transcription factor gene DOID:630 genetic disease ISO RGD:1603614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11677167 PTTG1 PTTG1 regulator of sister chromatid separation, securin gene DOID:12894 Sjogren's syndrome ISO RGD:68511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 11677167 PTTG1 PTTG1 regulator of sister chromatid separation, securin gene DOID:630 genetic disease ISO RGD:68511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11677167 PTTG1 PTTG1 regulator of sister chromatid separation, securin gene DOID:684 hepatocellular carcinoma ISO RGD:68511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11677167 PTTG1 PTTG1 regulator of sister chromatid separation, securin gene DOID:8893 psoriasis ISO RGD:68511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953187 11677167 PTTG1 PTTG1 regulator of sister chromatid separation, securin gene DOID:9002234 Pituitary Neoplasms ISO RGD:68359 D RGD:9068941 20200609 RGD PMID:9092795|REF_RGD_ID:68295 11677180 LRRC10B leucine rich repeat containing 10B gene DOID:0050773 paraganglioma ISO RGD:3208116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:22241717|PMID:26096992|PMID:28492532 11677180 LRRC10B leucine rich repeat containing 10B gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:3208116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11677180 LRRC10B leucine rich repeat containing 10B gene DOID:1059 intellectual disability ISO RGD:3208116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11677180 LRRC10B leucine rich repeat containing 10B gene DOID:630 genetic disease ISO RGD:3208116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11677180 LRRC10B leucine rich repeat containing 10B gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:3208116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:22241717|PMID:26096992|PMID:28492532 11677185 FER1L5 fer-1 like family member 5 gene DOID:1059 intellectual disability ISO RGD:1625097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11677185 FER1L5 fer-1 like family member 5 gene DOID:5419 schizophrenia ISO RGD:1625097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11677185 FER1L5 fer-1 like family member 5 gene DOID:630 genetic disease ISO RGD:1625097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11677242 VRTN vertebrae development associated gene DOID:1059 intellectual disability ISO RGD:1347442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11677242 VRTN vertebrae development associated gene DOID:630 genetic disease ISO RGD:1347442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11677248 PHACTR1 phosphatase and actin regulator 1 gene DOID:0080600 COVID-19 ISO RGD:1353173 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 11677248 PHACTR1 phosphatase and actin regulator 1 gene DOID:0112206 developmental and epileptic encephalopathy 70 ISO RGD:1353173 D RGD:7240710 20190315 OMIM 11677248 PHACTR1 phosphatase and actin regulator 1 gene DOID:0112206 developmental and epileptic encephalopathy 70 ISO RGD:1353173 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 70 PMID:23033978|PMID:25741868|PMID:30256902|PMID:33463715 11677248 PHACTR1 phosphatase and actin regulator 1 gene DOID:12783 migraine without aura ISO RGD:1353173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22683712 11677248 PHACTR1 phosphatase and actin regulator 1 gene DOID:3393 coronary artery disease ISO RGD:1353173 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:21378990|PMID:22751097|PMID:26098115|PMID:34961328 11677248 PHACTR1 phosphatase and actin regulator 1 gene DOID:5419 schizophrenia ISO RGD:1353173 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11677248 PHACTR1 phosphatase and actin regulator 1 gene DOID:5844 myocardial infarction ISO RGD:1353173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19198609|PMID:26098115 11677248 PHACTR1 phosphatase and actin regulator 1 gene DOID:630 genetic disease ISO RGD:1353173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11677248 PHACTR1 phosphatase and actin regulator 1 gene DOID:9001829 Cerebrovascular Trauma ISO RGD:1353173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25420145 11677248 PHACTR1 phosphatase and actin regulator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 11677248 PHACTR1 phosphatase and actin regulator 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1353173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11677258 MIGA2 mitoguardin 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1322047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11677258 MIGA2 mitoguardin 2 gene DOID:630 genetic disease ISO RGD:1322047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11677279 EXOSC3 exosome component 3 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1312357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11677279 EXOSC3 exosome component 3 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1312357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:18414213|PMID:22544365|PMID:23284067|PMID:23975261|PMID:24033266|PMID:24524299|PMID:25741868|PMID:25809939|PMID:28492532|PMID:33462000|PMID:36004024 11677279 EXOSC3 exosome component 3 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1312357 D RGD:7240710 20180130 OMIM 11677279 EXOSC3 exosome component 3 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1312357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1B PMID:18414213|PMID:22544365|PMID:23284067|PMID:23564332|PMID:23883322|PMID:23975261|PMID:24033266|PMID:24524299|PMID:24970098|PMID:25149867|PMID:25326635|PMID:25533962|PMID:25741868|PMID:25809939|PMID:27146152|PMID:27777260|PMID:28053271|PMID:28492532|PMID:28687512|PMID:29186371|PMID:29444210|PMID:29656927|PMID:30221345|PMID:30986545|PMID:33462000|PMID:36004024 11677279 EXOSC3 exosome component 3 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1312357 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11677279 EXOSC3 exosome component 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1312357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:22544365|PMID:23883322|PMID:25741868|PMID:28053271|PMID:28492532|PMID:30221345 11677279 EXOSC3 exosome component 3 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1312357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11677279 EXOSC3 exosome component 3 gene DOID:0112322 pontocerebellar hypoplasia type 1 ISO RGD:1312357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22544365 11677279 EXOSC3 exosome component 3 gene DOID:10534 stomach cancer disease_progression ISO RGD:1312357 D RGD:9068941 20220421 RGD mRNA:altered expression:stomach, tumor (human) PMID:29069277|REF_RGD_ID:151893464 11677279 EXOSC3 exosome component 3 gene DOID:630 genetic disease ISO RGD:1312357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22544365|PMID:23564332|PMID:23883322|PMID:23975261|PMID:24524299|PMID:24970098|PMID:25149867|PMID:25326635|PMID:25533962|PMID:25741868|PMID:27146152|PMID:27777260|PMID:28492532|PMID:28687512|PMID:29186371|PMID:29444210|PMID:29656927|PMID:30986545 11677279 EXOSC3 exosome component 3 gene DOID:9005603 Muscle Hypotonia ISO RGD:1312357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotonia PMID:22544365|PMID:23564332|PMID:23883322|PMID:23975261|PMID:24524299|PMID:24970098|PMID:25149867|PMID:25326635|PMID:25533962|PMID:25741868|PMID:27146152|PMID:27777260|PMID:28492532|PMID:28687512|PMID:29186371|PMID:29444210|PMID:29656927|PMID:30986545 11677279 EXOSC3 exosome component 3 gene DOID:9006534 Nervous System Malformations ISO RGD:1312357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:22544365|PMID:23564332|PMID:23883322|PMID:23975261|PMID:24524299|PMID:24970098|PMID:25149867|PMID:25326635|PMID:25533962|PMID:25741868|PMID:27146152|PMID:27777260|PMID:28492532|PMID:28687512|PMID:29186371|PMID:29444210|PMID:29656927|PMID:30986545 11677279 EXOSC3 exosome component 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1312357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11677279 EXOSC3 exosome component 3 gene DOID:9870 galactosemia ISO RGD:1312357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11677292 SLX4IP SLX4 interacting protein gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1352856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 11677292 SLX4IP SLX4 interacting protein gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:1352856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 11677292 SLX4IP SLX4 interacting protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1352856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11677292 SLX4IP SLX4 interacting protein gene DOID:630 genetic disease ISO RGD:1352856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11677292 SLX4IP SLX4 interacting protein gene DOID:9245 Alagille syndrome ISO RGD:1352856 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:10213047|PMID:16575836|PMID:19058200|PMID:22382802|PMID:28492532|PMID:32733715 11677305 ARFIP1 ADP ribosylation factor interacting protein 1 gene DOID:630 genetic disease ISO RGD:732747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11677333 MTUS2 microtubule associated scaffold protein 2 gene DOID:630 genetic disease ISO RGD:1346037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11677346 MRPL42 mitochondrial ribosomal protein L42 gene DOID:630 genetic disease ISO RGD:1312629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11677358 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:0060879 primary hypomagnesemia ISO RGD:1317777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypomagnesemia 11677358 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:0060884 renal hypomagnesemia 6 ISO RGD:1317777 D RGD:7240710 20180130 OMIM 11677358 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:0060884 renal hypomagnesemia 6 ISO RGD:1317777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal hypomagnesemia 6 PMID:21397062|PMID:25741868|PMID:28492532 11677358 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:0060885 renal hypomagnesemia 2 ISO RGD:1317777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal Hypomagnesemia, Dominant 11677358 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:0110797 hereditary spastic paraplegia 45 ISO RGD:1317777 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 45 PMID:24482476|PMID:25741868|PMID:28492532 11677358 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1317777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 11677358 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:557 kidney disease ISO RGD:1317777 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23027747 11677358 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:630 genetic disease ISO RGD:1317777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11677358 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1317777 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23027747 11677358 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 11677358 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:9005063 HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 1 ISO RGD:1317777 D RGD:7240710 20180130 OMIM 11677358 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:9005063 HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 1 ISO RGD:1317777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypomagnesemia, seizures, and intellectual disability 1 PMID:24699222|PMID:25741868|PMID:28492532 11677358 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:9008449 Tetany ISO RGD:1317777 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23027747 11677373 UMPS uridine monophosphate synthetase gene DOID:0050833 orotic aciduria ISO RGD:1323612 D RGD:7240710 20180130 OMIM 11677373 UMPS uridine monophosphate synthetase gene DOID:0050833 orotic aciduria ISO RGD:1323612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary orotic aciduria, type 1 | ClinVar Annotator: match by term: Orotic aciduria PMID:16199547|PMID:25741868|PMID:25757096|PMID:28205048|PMID:28263315|PMID:28492532|PMID:9042911 11677373 UMPS uridine monophosphate synthetase gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1323612 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 11677373 UMPS uridine monophosphate synthetase gene DOID:0080916 erythroleukemia ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 11677373 UMPS uridine monophosphate synthetase gene DOID:10923 sickle cell anemia ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 11677373 UMPS uridine monophosphate synthetase gene DOID:12241 beta thalassemia ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 11677373 UMPS uridine monophosphate synthetase gene DOID:12971 hereditary spherocytosis ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 11677373 UMPS uridine monophosphate synthetase gene DOID:1342 congenital hypoplastic anemia ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 11677373 UMPS uridine monophosphate synthetase gene DOID:1749 squamous cell carcinoma ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16757204 11677373 UMPS uridine monophosphate synthetase gene DOID:630 genetic disease ISO RGD:1323612 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11677373 UMPS uridine monophosphate synthetase gene DOID:653 purine-pyrimidine metabolic disorder ISO RGD:1323612 D RGD:9068941 20200609 RGD orotic aciduria PMID:9042911|REF_RGD_ID:1599702 11677373 UMPS uridine monophosphate synthetase gene DOID:684 hepatocellular carcinoma ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18230555 11677373 UMPS uridine monophosphate synthetase gene DOID:9000217 Stomach Neoplasms ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16912530|PMID:17089033|PMID:18652704 11677373 UMPS uridine monophosphate synthetase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15999119|PMID:19082440 11677373 UMPS uridine monophosphate synthetase gene DOID:9002928 Colonic Neoplasms ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18652704 11677373 UMPS uridine monophosphate synthetase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1311908 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:3907307|REF_RGD_ID:5132278 11677373 UMPS uridine monophosphate synthetase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1311908 D RGD:9068941 20200609 RGD protein:decreased activity:mammary gland (rat) PMID:1476792|REF_RGD_ID:5132591 11677373 UMPS uridine monophosphate synthetase gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1323612 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 11677373 UMPS uridine monophosphate synthetase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1323612 D RGD:9068941 20220616 RGD DNA:SNP:cds:rs2279199|rs4678145 (human) PMID:28347776|REF_RGD_ID:152995291 11677373 UMPS uridine monophosphate synthetase gene DOID:9007364 Mouth Neoplasms ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16757204 11677373 UMPS uridine monophosphate synthetase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814641|PMID:19020767 11677373 UMPS uridine monophosphate synthetase gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1323612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 11677373 UMPS uridine monophosphate synthetase gene DOID:9008939 Breast Neoplasms ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19020767|PMID:19151563 11677373 UMPS uridine monophosphate synthetase gene DOID:9270 alkaptonuria ISO RGD:1323612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11677383 MGAT4C MGAT4 family member C gene DOID:630 genetic disease ISO RGD:1604033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11677406 CLEC11A C-type lectin domain containing 11A gene DOID:11476 osteoporosis ISO RGD:1604062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27976999 11677406 CLEC11A C-type lectin domain containing 11A gene DOID:13001 carotid stenosis ISO RGD:1604062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26564003 11677406 CLEC11A C-type lectin domain containing 11A gene DOID:14067 Plasmodium falciparum malaria ISO RGD:1604062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19884328 11677406 CLEC11A C-type lectin domain containing 11A gene DOID:1790 malignant mesothelioma ISO RGD:1604062 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 11677406 CLEC11A C-type lectin domain containing 11A gene DOID:2355 anemia ISO RGD:1604062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19884328 11677406 CLEC11A C-type lectin domain containing 11A gene DOID:630 genetic disease ISO RGD:1604062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11677418 NELL1 neural EGFL like 1 gene DOID:10283 prostate cancer ISO RGD:733264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11677418 NELL1 neural EGFL like 1 gene DOID:1059 intellectual disability ISO RGD:733264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11677418 NELL1 neural EGFL like 1 gene DOID:2340 craniosynostosis ISO RGD:620998 D RGD:9068941 20200609 RGD PMID:12235118|REF_RGD_ID:633405 11677418 NELL1 neural EGFL like 1 gene DOID:2340 craniosynostosis ISO RGD:733264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14672347 11677418 NELL1 neural EGFL like 1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:733264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17452981 11677418 NELL1 neural EGFL like 1 gene DOID:630 genetic disease ISO RGD:733264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11677443 DLG5 discs large MAGUK scaffold protein 5 gene DOID:630 genetic disease ISO RGD:1318707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11677443 DLG5 discs large MAGUK scaffold protein 5 gene DOID:9002672 Generalized Epilepsy and Paroxysmal Dyskinesia ISO RGD:1318707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy PMID:28492532 11677443 DLG5 discs large MAGUK scaffold protein 5 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1318707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:28492532 11677530 KLHL41 kelch like family member 41 gene DOID:0110929 nemaline myopathy 9 ISO RGD:1351992 D RGD:7240710 20180130 OMIM 11677530 KLHL41 kelch like family member 41 gene DOID:0110929 nemaline myopathy 9 ISO RGD:1351992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 9 PMID:24268659|PMID:25558065|PMID:25741868|PMID:28492532 11677530 KLHL41 kelch like family member 41 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1351992 D RGD:9068941 20200609 RGD PMID:11583900|REF_RGD_ID:1580798 11677530 KLHL41 kelch like family member 41 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1351992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11677530 KLHL41 kelch like family member 41 gene DOID:3191 nemaline myopathy ISO RGD:1351992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy PMID:24268659|PMID:25558065 11677530 KLHL41 kelch like family member 41 gene DOID:630 genetic disease ISO RGD:1351992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11677557 TMEM184C transmembrane protein 184C gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1349593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 11677557 TMEM184C transmembrane protein 184C gene DOID:630 genetic disease ISO RGD:1349593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11677557 TMEM184C transmembrane protein 184C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868 11677582 SUPT3H SPT3 homolog, SAGA and STAGA complex component gene DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome ISO RGD:1313449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome PMID:23290074 11677582 SUPT3H SPT3 homolog, SAGA and STAGA complex component gene DOID:13994 cleidocranial dysplasia ISO RGD:1313449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleidocranial dysostosis PMID:25741868|PMID:33987976 11677582 SUPT3H SPT3 homolog, SAGA and STAGA complex component gene DOID:630 genetic disease ISO RGD:1313449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:0080006 bone development disease ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:17078022|PMID:19344236|PMID:25741868|PMID:27519266|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:730984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrochalasis multiplex congenita | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7A PMID:25441681|PMID:28492532 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:31414283|PMID:31794058|PMID:7695699|PMID:8218237|PMID:9016532 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:0080728 Ehlers-Danlos syndrome arthrochalasia type 2 ISO RGD:730984 D RGD:7240710 20200318 OMIM 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:0080728 Ehlers-Danlos syndrome arthrochalasia type 2 ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2 PMID:10976985|PMID:11288717|PMID:11317364|PMID:15077201|PMID:15172002|PMID:1556139|PMID:1577745|PMID:16199547|PMID:16705691|PMID:16786509|PMID:17078022|PMID:1712342|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18996919|PMID:19344236|PMID:1978725|PMID:1990839|PMID:21520333|PMID:21530898|PMID:21801164|PMID:21884818|PMID:22589248|PMID:23158907|PMID:23869235|PMID:24033266|PMID:2454224|PMID:25146735|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26264438|PMID:26307460|PMID:26371943|PMID:26432670|PMID:26467025|PMID:26604951|PMID:27011056|PMID:27056980|PMID:27519266|PMID:2777808|PMID:28017821|PMID:28346524|PMID:28492532|PMID:28725987|PMID:29150909|PMID:2985635|PMID:2993307|PMID:30283887|PMID:30715774|PMID:30821104|PMID:30984112|PMID:31319225|PMID:31414283|PMID:31447884|PMID:32659730|PMID:34422331|PMID:3621666|PMID:3680255|PMID:3733683|PMID:4742738|PMID:6773953|PMID:7695699|PMID:7860070|PMID:7864655|PMID:8081389|PMID:8094076|PMID:8218237|PMID:8456808|PMID:9016532|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9594376|PMID:9923651 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type ISO RGD:730984 D RGD:7240710 20180130 OMIM 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, cardiac valvular type PMID:15077201|PMID:16705691|PMID:16786509|PMID:16816023|PMID:17078022|PMID:17576681|PMID:19344236|PMID:21520333|PMID:22589248|PMID:25326637|PMID:25441681|PMID:25450603|PMID:25741868|PMID:25944380|PMID:26307460|PMID:26371943|PMID:26432670|PMID:26467025|PMID:26604951|PMID:27519266|PMID:28492532|PMID:29150909|PMID:3049731|PMID:30821104|PMID:31414283|PMID:31794058|PMID:32659730|PMID:3383844|PMID:7695699|PMID:7860070|PMID:8094076|PMID:8218237|PMID:9016532|PMID:9272740|PMID:9295084|PMID:9536098|PMID:9594376 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:0090034 myoclonic dystonia 11 ISO RGD:730984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 11 PMID:12821748|PMID:15389977|PMID:17853490|PMID:23677909|PMID:24297365|PMID:28492532 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:730984 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta tarda | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1A | ClinVar Annotator: match by term: Osteogenesis imperfecta type I | ClinVar Annotator: match by term: Osteogenesis imperfecta with opalescent teeth PMID:10027910|PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:1642148|PMID:16705691|PMID:16786509|PMID:16816023|PMID:16879195|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19344236|PMID:19594296|PMID:1978725|PMID:1990009|PMID:2010058|PMID:21344539|PMID:21520333|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23158907|PMID:23227268|PMID:23443412|PMID:23548243|PMID:23692737|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24342908|PMID:24501682|PMID:2454224|PMID:24668929|PMID:25146735|PMID:25289482|PMID:25326637|PMID:25441681|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26307460|PMID:26371943|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:26627451|PMID:26788535|PMID:27011056|PMID:27056980|PMID:27264419|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:2777808|PMID:2824475|PMID:28378289|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28725987|PMID:28810924|PMID:28916840|PMID:29150909|PMID:29499418|PMID:29595812|PMID:29656858|PMID:29669177|PMID:2985635|PMID:2993307|PMID:29947050|PMID:30152103|PMID:30311386|PMID:30715774|PMID:30886339|PMID:31039433|PMID:31141158|PMID:31363794|PMID:31414283|PMID:31447884|PMID:31794058|PMID:32659730|PMID:32667677|PMID:32770541|PMID:33070251|PMID:3372533|PMID:3680255|PMID:458828|PMID:4742738|PMID:6092353|PMID:6773953|PMID:7695699|PMID:7860070|PMID:8071956|PMID:8081389|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9099837|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:730984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta tarda | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1A | ClinVar Annotator: match by term: Osteogenesis imperfecta type I | ClinVar Annotator: match by term: Osteogenesis imperfecta with opalescent teeth PMID:10027910|PMID:10627137|PMID:10807697|PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:1634225|PMID:1642148|PMID:16705691|PMID:16786509|PMID:16816023|PMID:16879195|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18798308|PMID:18996919|PMID:19317096|PMID:19344236|PMID:19594296|PMID:1978725|PMID:1990009|PMID:2010058|PMID:2052622|PMID:21239989|PMID:21344539|PMID:21488275|PMID:21488294|PMID:21520333|PMID:21530898|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23158907|PMID:23227268|PMID:23443412|PMID:23548243|PMID:23692737|PMID:23869235|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24296239|PMID:24342908|PMID:24501682|PMID:2454224|PMID:24668929|PMID:24863959|PMID:25086671|PMID:25146735|PMID:25289482|PMID:25326637|PMID:25436829|PMID:25441681|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26264438|PMID:26307460|PMID:26371943|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26551090|PMID:26604951|PMID:26627451|PMID:26788535|PMID:27011056|PMID:27056980|PMID:27090748|PMID:27264419|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:2777808|PMID:28017821|PMID:2824475|PMID:28346524|PMID:28378289|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28725987|PMID:28810924|PMID:28916840|PMID:29150909|PMID:29499418|PMID:29595812|PMID:29620724|PMID:29656858|PMID:29669177|PMID:29807018|PMID:2985635|PMID:2993307|PMID:29947050|PMID:30152103|PMID:30283887|PMID:30311386|PMID:30715774|PMID:30821104|PMID:30886339|PMID:30984112|PMID:31039433|PMID:31141158|PMID:31363794|PMID:31414283|PMID:31429852|PMID:31447884|PMID:31566912|PMID:31737030|PMID:31794058|PMID:32123938|PMID:32659730|PMID:32667677|PMID:32770541|PMID:32920552|PMID:33070251|PMID:3372533|PMID:33939306|PMID:34025714|PMID:34306033|PMID:34422331|PMID:3680255|PMID:458828|PMID:4742738|PMID:6092353|PMID:6773953|PMID:7695699|PMID:7860070|PMID:7891382|PMID:7959683|PMID:8071956|PMID:8081389|PMID:8081394|PMID:8094076|PMID:8218237|PMID:8456807|PMID:8456808|PMID:8800927|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9099837|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:730984 D RGD:7240710 20180130 OMIM 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: OI type III | ClinVar Annotator: match by term: Osteogenesis imperfecta type III PMID:10807697|PMID:16705691|PMID:16786509|PMID:17078022|PMID:19208385|PMID:19344236|PMID:2052622|PMID:2064612|PMID:21488294|PMID:21520333|PMID:21667357|PMID:22206639|PMID:22589248|PMID:23934635|PMID:24033266|PMID:24501682|PMID:24668929|PMID:25326635|PMID:25326637|PMID:25450603|PMID:25741868|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26307460|PMID:26371943|PMID:26432670|PMID:26467025|PMID:26604951|PMID:26627451|PMID:27510842|PMID:27519266|PMID:27748872|PMID:2824475|PMID:28492532|PMID:28498836|PMID:28810924|PMID:29150909|PMID:3023615|PMID:30715774|PMID:30821104|PMID:31447884|PMID:31794058|PMID:32659730|PMID:32770541|PMID:3995789|PMID:6092353|PMID:7695699|PMID:7749416|PMID:7860070|PMID:7881420|PMID:8081394|PMID:8094076|PMID:8218237|PMID:8728690|PMID:8829649|PMID:9016532|PMID:9099837|PMID:9143923|PMID:9272740|PMID:9594376 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:0110340 osteogenesis imperfecta type 4 ISO RGD:730984 D RGD:7240710 20180130 OMIM 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:0110340 osteogenesis imperfecta type 4 ISO RGD:730984 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: OI type IV | ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV | ClinVar Annotator: match by term: Osteogenesis imperfecta type 4 PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:17078022|PMID:19344236|PMID:20301472|PMID:2064612|PMID:21344539|PMID:21488275|PMID:21488294|PMID:21520333|PMID:21530898|PMID:21667357|PMID:22206639|PMID:22589248|PMID:23227268|PMID:23934635|PMID:24033266|PMID:24501682|PMID:25326637|PMID:25450603|PMID:25741868|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26307460|PMID:26371943|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:26627451|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:28492532|PMID:28498836|PMID:28810924|PMID:2897363|PMID:29150909|PMID:29595812|PMID:29669177|PMID:30152103|PMID:30715774|PMID:30821104|PMID:30886339|PMID:32659730|PMID:32667677|PMID:7695699|PMID:7860070|PMID:7881420|PMID:8094076|PMID:8218237|PMID:8456807|PMID:8786065|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9143923|PMID:9240878|PMID:9268111|PMID:9272740|PMID:9594376 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:0110341 osteogenesis imperfecta type 2 ISO RGD:730984 D RGD:7240710 20180130 OMIM 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:0110341 osteogenesis imperfecta type 2 ISO RGD:730984 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA | ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta PMID:10027910|PMID:11288717|PMID:11317364|PMID:12362985|PMID:1301191|PMID:1385413|PMID:15077201|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:17078022|PMID:1711048|PMID:17576681|PMID:1874719|PMID:18996919|PMID:19344236|PMID:21488294|PMID:21520333|PMID:21667357|PMID:21829228|PMID:22589248|PMID:22753364|PMID:24033266|PMID:25326637|PMID:25450603|PMID:25741868|PMID:25944380|PMID:26177859|PMID:26307460|PMID:26371943|PMID:26432670|PMID:26467025|PMID:26604951|PMID:26627451|PMID:26938784|PMID:27509835|PMID:27519266|PMID:27748872|PMID:2777764|PMID:2839839|PMID:28492532|PMID:2914942|PMID:29150909|PMID:2952379|PMID:29656858|PMID:30715774|PMID:30821104|PMID:32659730|PMID:3372533|PMID:3383844|PMID:6191221|PMID:7695699|PMID:7860070|PMID:7959683|PMID:8094076|PMID:8218237|PMID:8482361|PMID:9016532|PMID:9272740|PMID:9536098|PMID:9594376|PMID:9923651 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:10941 intracranial aneurysm ISO RGD:730984 D RGD:9068941 20200609 RGD PMID:14739420|REF_RGD_ID:1581199 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:11476 osteoporosis ISO RGD:730984 D RGD:7240710 20180130 OMIM 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:11476 osteoporosis ISO RGD:730984 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 1 | ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis PMID:15172002|PMID:16705691|PMID:16786509|PMID:17078022|PMID:18028452|PMID:19344236|PMID:1978725|PMID:21520333|PMID:22589248|PMID:25326637|PMID:25450603|PMID:25741868|PMID:25944380|PMID:26264438|PMID:26307460|PMID:26371943|PMID:26432670|PMID:26467025|PMID:26604951|PMID:27011056|PMID:27519266|PMID:28017821|PMID:28492532|PMID:29150909|PMID:2985635|PMID:30283887|PMID:30821104|PMID:32659730|PMID:7695699|PMID:7860070|PMID:8094076|PMID:8218237|PMID:9016532|PMID:9272740|PMID:9399846|PMID:9594376|PMID:9923651 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:730984 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brittle bone disease | ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16705691|PMID:16816023|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19344236|PMID:1978725|PMID:1990009|PMID:2010058|PMID:21344539|PMID:21520333|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23227268|PMID:23692737|PMID:24033266|PMID:24140640|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26307460|PMID:26432670|PMID:26467025|PMID:26604951|PMID:27056980|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:2824475|PMID:28378289|PMID:28396251|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28810924|PMID:28916840|PMID:29595812|PMID:29656858|PMID:2985635|PMID:2993307|PMID:30152103|PMID:30886339|PMID:31039433|PMID:31794058|PMID:32659730|PMID:32667677|PMID:3372533|PMID:3403536|PMID:458828|PMID:6092353|PMID:7695699|PMID:7860070|PMID:8071956|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:9016532|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:730984 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brittle bone disease | ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:16705691|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19344236|PMID:1978725|PMID:1990009|PMID:2010058|PMID:21344539|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23227268|PMID:23692737|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26307460|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:27056980|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:2824475|PMID:28378289|PMID:28396251|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28810924|PMID:28916840|PMID:29595812|PMID:29656858|PMID:2985635|PMID:30152103|PMID:30886339|PMID:31039433|PMID:31141158|PMID:31794058|PMID:32659730|PMID:32667677|PMID:3403536|PMID:458828|PMID:7695699|PMID:7860070|PMID:8071956|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:730984 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta with blue sclerae | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19317096|PMID:19344236|PMID:1978725|PMID:1990009|PMID:2010058|PMID:21344539|PMID:21520333|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23227268|PMID:23692737|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26264438|PMID:26307460|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:27011056|PMID:27056980|PMID:27090748|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:28017821|PMID:2824475|PMID:28346524|PMID:28378289|PMID:28396251|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28725987|PMID:28810924|PMID:28916840|PMID:29595812|PMID:29656858|PMID:2985635|PMID:29947050|PMID:30152103|PMID:30283887|PMID:30715774|PMID:30821104|PMID:30886339|PMID:30984112|PMID:31039433|PMID:31141158|PMID:31414283|PMID:31566912|PMID:31794058|PMID:32659730|PMID:32667677|PMID:3403536|PMID:458828|PMID:7695699|PMID:7860070|PMID:8071956|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:730984 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta with blue sclerae PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19317096|PMID:19344236|PMID:1978725|PMID:1990009|PMID:2010058|PMID:21344539|PMID:21520333|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23227268|PMID:23692737|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26264438|PMID:26307460|PMID:26371943|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:27011056|PMID:27056980|PMID:27090748|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:28017821|PMID:2824475|PMID:28346524|PMID:28378289|PMID:28396251|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28725987|PMID:28810924|PMID:28916840|PMID:29150909|PMID:29595812|PMID:29656858|PMID:2985635|PMID:29947050|PMID:30152103|PMID:30283887|PMID:30715774|PMID:30821104|PMID:30886339|PMID:30984112|PMID:31039433|PMID:31141158|PMID:31414283|PMID:31566912|PMID:31794058|PMID:32659730|PMID:32667677|PMID:3403536|PMID:458828|PMID:7695699|PMID:7860070|PMID:8071956|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta with blue sclerae | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19317096|PMID:19344236|PMID:1978725|PMID:1990009|PMID:2010058|PMID:20301472|PMID:21344539|PMID:21488294|PMID:21520333|PMID:21530898|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23227268|PMID:23692737|PMID:23869235|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25146735|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26264438|PMID:26307460|PMID:26371943|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:26627451|PMID:27011056|PMID:27056980|PMID:27090748|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:28017821|PMID:2824475|PMID:28346524|PMID:28378289|PMID:28396251|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28725987|PMID:28810924|PMID:28916840|PMID:29150909|PMID:29595812|PMID:29656858|PMID:2985635|PMID:29947050|PMID:30152103|PMID:30283887|PMID:30715774|PMID:30821104|PMID:30886339|PMID:30984112|PMID:31039433|PMID:31141158|PMID:31414283|PMID:31566912|PMID:31737030|PMID:31794058|PMID:32659730|PMID:32667677|PMID:32920552|PMID:3403536|PMID:34422331|PMID:458828|PMID:7695699|PMID:7860070|PMID:8071956|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:730984 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta with blue sclerae | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19317096|PMID:19344236|PMID:1978725|PMID:1990009|PMID:2010058|PMID:20301472|PMID:21344539|PMID:21488275|PMID:21488294|PMID:21520333|PMID:21530898|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23227268|PMID:23692737|PMID:23869235|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25146735|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26264438|PMID:26307460|PMID:26371943|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:26627451|PMID:27011056|PMID:27056980|PMID:27090748|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:28017821|PMID:2824475|PMID:28346524|PMID:28378289|PMID:28396251|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28725987|PMID:28810924|PMID:28916840|PMID:29150909|PMID:29595812|PMID:29656858|PMID:2985635|PMID:29947050|PMID:30152103|PMID:30283887|PMID:30715774|PMID:30821104|PMID:30886339|PMID:30984112|PMID:31039433|PMID:31141158|PMID:31414283|PMID:31566912|PMID:31737030|PMID:31794058|PMID:32659730|PMID:32667677|PMID:32920552|PMID:3403536|PMID:34422331|PMID:458828|PMID:7695699|PMID:7860070|PMID:8071956|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:11288717|PMID:15077201|PMID:1577745|PMID:16199547|PMID:1634225|PMID:16786509|PMID:17078022|PMID:1712342|PMID:17576681|PMID:18996919|PMID:19344236|PMID:1990839|PMID:21239989|PMID:21520333|PMID:21801164|PMID:24033266|PMID:25741868|PMID:25944380|PMID:26402641|PMID:26467025|PMID:27056980|PMID:28492532|PMID:3049731|PMID:3383844|PMID:34025714|PMID:3621666|PMID:3733683|PMID:7695699|PMID:7864655|PMID:8218237|PMID:9016532|PMID:9272740|PMID:9295084|PMID:9536098 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:14323 Marfan syndrome ISO RGD:730984 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:15172002|PMID:18028452|PMID:1978725|PMID:25741868|PMID:26264438|PMID:26432670|PMID:27011056|PMID:28017821|PMID:28492532|PMID:2985635|PMID:30283887|PMID:9399846|PMID:9923651 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:1459 hypothyroidism ISO RGD:621351 D RGD:9068941 20200609 RGD mRNA:increased expression:heart ventricle PMID:8745212|REF_RGD_ID:7257542 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:730984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:10027910|PMID:11288717|PMID:11317364|PMID:11359465|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:16816023|PMID:16879195|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18311573|PMID:18996919|PMID:19344236|PMID:19594296|PMID:1978725|PMID:1990009|PMID:2052622|PMID:21520333|PMID:21667357|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23227268|PMID:23548243|PMID:23692737|PMID:23934635|PMID:24033266|PMID:24342908|PMID:24501682|PMID:2454224|PMID:24668929|PMID:25146735|PMID:25289482|PMID:25326637|PMID:25450603|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26307460|PMID:26371943|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26551090|PMID:26604951|PMID:26627451|PMID:27056980|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:2777808|PMID:2824475|PMID:28378289|PMID:28492532|PMID:28498836|PMID:28725987|PMID:28810924|PMID:29595812|PMID:29620724|PMID:29656858|PMID:29807018|PMID:2985635|PMID:2993307|PMID:30152103|PMID:30283887|PMID:30715774|PMID:30886339|PMID:31039433|PMID:31363794|PMID:31414283|PMID:31794058|PMID:32659730|PMID:32667677|PMID:3372533|PMID:3680255|PMID:4742738|PMID:6092353|PMID:6773953|PMID:7693712|PMID:7695699|PMID:7749416|PMID:7860070|PMID:7891382|PMID:8081389|PMID:8081394|PMID:8094076|PMID:8218237|PMID:8829649|PMID:9016532|PMID:9099837|PMID:9240878|PMID:9272740|PMID:9399846|PMID:9536098|PMID:9594376|PMID:9923651 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:730984 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:16816023|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19317096|PMID:19344236|PMID:1978725|PMID:2010058|PMID:21344539|PMID:21488275|PMID:21488294|PMID:21520333|PMID:21667357|PMID:21801164|PMID:21912751|PMID:22206639|PMID:22589248|PMID:23227268|PMID:23692737|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24501682|PMID:24668929|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26264438|PMID:26307460|PMID:26371943|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:26627451|PMID:27011056|PMID:27056980|PMID:27090748|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:28017821|PMID:2824475|PMID:28346524|PMID:28378289|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28725987|PMID:28810924|PMID:28916840|PMID:29150909|PMID:29595812|PMID:2985635|PMID:2993307|PMID:29947050|PMID:30152103|PMID:30283887|PMID:30715774|PMID:30821104|PMID:30886339|PMID:30984112|PMID:31039433|PMID:31141158|PMID:31414283|PMID:31566912|PMID:31794058|PMID:32659730|PMID:32667677|PMID:3372533|PMID:34422331|PMID:458828|PMID:6092353|PMID:7695699|PMID:7749416|PMID:7860070|PMID:8071956|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:9016532|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:3770 pulmonary fibrosis ISO RGD:621351 D RGD:9068941 20200609 RGD PMID:7511187|REF_RGD_ID:7257543 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:4079 heart valve disease ISO RGD:730984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15077201 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:4079 heart valve disease ISO RGD:730984 D RGD:9068941 20200609 RGD PMID:15077201|PMID:16816023|REF_RGD_ID:1581196|REF_RGD_ID:1581198 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:4154 dentinogenesis imperfecta ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dentinogenesis imperfecta PMID:16705691|PMID:17078022|PMID:19344236|PMID:23227268|PMID:25741868|PMID:25944380|PMID:26177859|PMID:26788535|PMID:27510842|PMID:28492532|PMID:30152103|PMID:30715774|PMID:30886339|PMID:31429852|PMID:7695699|PMID:8218237|PMID:9016532 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:418 systemic scleroderma ISO RGD:730984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24706986 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:730984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:5082 liver cirrhosis ISO RGD:730984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:5199 ureteral obstruction ISO RGD:621351 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:20660018|REF_RGD_ID:5688341 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:5773 oral submucous fibrosis ISO RGD:730984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:630 genetic disease ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10027910|PMID:11288717|PMID:11317364|PMID:15077201|PMID:16199547|PMID:17078022|PMID:18996919|PMID:19344236|PMID:2010058|PMID:21344539|PMID:21667357|PMID:21801164|PMID:21912751|PMID:24140640|PMID:24668929|PMID:25741868|PMID:25944380|PMID:2824475|PMID:28492532|PMID:28625337|PMID:28916840|PMID:458828|PMID:7695699|PMID:8071956|PMID:8218237|PMID:9016532|PMID:9268111|PMID:9295084|PMID:9557891 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:65 connective tissue disease ISO RGD:730984 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:15172002|PMID:17576681|PMID:18028452|PMID:1978725|PMID:25741868|PMID:25944380|PMID:26264438|PMID:26432670|PMID:26467025|PMID:27011056|PMID:27056980|PMID:28017821|PMID:28492532|PMID:2985635|PMID:30283887|PMID:31363794|PMID:9399846|PMID:9536098|PMID:9923651 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:767 muscular atrophy ISO RGD:621351 D RGD:9068941 20200609 RGD PMID:17916675|REF_RGD_ID:7257536 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:8398 osteoarthritis ISO RGD:730984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:9000784 Fibrosis ISO RGD:730984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20388698 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:9001528 ARTERIAL DISSECTION ISO RGD:730984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Predisposition to dissection PMID:25741868|PMID:28492532 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621351 D RGD:9068941 20200609 RGD PMID:7512265|REF_RGD_ID:7257544 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:730984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:9004283 Transplant Rejection ISO RGD:730984 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:20150539|REF_RGD_ID:7248773 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:9004590 Acute Liver Failure ISO RGD:621351 D RGD:9068941 20200609 RGD PMID:11786959|REF_RGD_ID:7257539 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:9004797 Fetal Nutrition Disorders ISO RGD:621351 D RGD:9068941 20230202 RGD associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) PMID:23977013|REF_RGD_ID:155882570 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Postmenopausal osteoporosis PMID:1463018|PMID:15172002|PMID:16705691|PMID:16786509|PMID:16879195|PMID:17078022|PMID:18028452|PMID:19344236|PMID:1978725|PMID:2052622|PMID:21520333|PMID:22589248|PMID:22753364|PMID:25326637|PMID:25450603|PMID:25741868|PMID:25944380|PMID:26177859|PMID:26264438|PMID:26307460|PMID:26432670|PMID:26604951|PMID:27011056|PMID:27519266|PMID:28017821|PMID:28492532|PMID:2985635|PMID:30283887|PMID:32659730|PMID:7695699|PMID:7860070|PMID:8094076|PMID:8218237|PMID:8786074|PMID:9016532|PMID:9272740|PMID:9399846|PMID:9594376|PMID:9923651 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:9005950 Orthostatic Hypotension ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Orthostatic hypotension 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:9007227 Bruck Syndrome 1 ISO RGD:730984 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bruck syndrome 1 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:9007779 Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 ISO RGD:730984 D RGD:7240710 20201223 OMIM 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:9007779 Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | ClinVar Annotator: match by term: OIEDS SYNDROME 2 PMID:10027910|PMID:10982177|PMID:11288717|PMID:11317364|PMID:16705691|PMID:17078022|PMID:18311573|PMID:18996919|PMID:19344236|PMID:21520333|PMID:21667357|PMID:22589248|PMID:23692737|PMID:25146735|PMID:25741868|PMID:25944380|PMID:26177859|PMID:26371943|PMID:26432670|PMID:26467025|PMID:27510842|PMID:28378289|PMID:28492532|PMID:29150909|PMID:30715774|PMID:30821104|PMID:34422331|PMID:7695699|PMID:8218237|PMID:9016532 11677625 COL1A2 collagen type I alpha 2 chain gene DOID:9008086 Developmental Disabilities ISO RGD:730984 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:28492532|PMID:30311386 11677687 ZNF385B zinc finger protein 385B gene DOID:630 genetic disease ISO RGD:1322504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11677707 NOL8 nucleolar protein 8 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1319952 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 11677707 NOL8 nucleolar protein 8 gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1319952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 11677707 NOL8 nucleolar protein 8 gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1319952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 11677707 NOL8 nucleolar protein 8 gene DOID:630 genetic disease ISO RGD:1319952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11677707 NOL8 nucleolar protein 8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30125550 11677761 FAM174C family with sequence similarity 174 member C gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1346714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 11677761 FAM174C family with sequence similarity 174 member C gene DOID:5339 cyclic hematopoiesis ISO RGD:1346714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11677766 TOGARAM2 TOG array regulator of axonemal microtubules 2 gene DOID:630 genetic disease ISO RGD:1603353 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11677766 TOGARAM2 TOG array regulator of axonemal microtubules 2 gene DOID:9009095 Neuroblastoma 3 ISO RGD:1603353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 PMID:28492532 11677791 BICRA BRD4 interacting chromatin remodeling complex associated protein gene DOID:0080598 Kleefstra syndrome 2 ISO RGD:1314970 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 2 PMID:25741868 11677791 BICRA BRD4 interacting chromatin remodeling complex associated protein gene DOID:0112370 Coffin-Siris syndrome 12 ISO RGD:1314970 D RGD:7240710 20210616 OMIM 11677791 BICRA BRD4 interacting chromatin remodeling complex associated protein gene DOID:0112370 Coffin-Siris syndrome 12 ISO RGD:1314970 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 12 PMID:25741868|PMID:25741870|PMID:28492532|PMID:33232675 11677791 BICRA BRD4 interacting chromatin remodeling complex associated protein gene DOID:1059 intellectual disability ISO RGD:1314970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:33232675 11677791 BICRA BRD4 interacting chromatin remodeling complex associated protein gene DOID:630 genetic disease ISO RGD:1314970 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11677791 BICRA BRD4 interacting chromatin remodeling complex associated protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314970 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33232675 11677791 BICRA BRD4 interacting chromatin remodeling complex associated protein gene DOID:9008582 Developmental Disease ISO RGD:1314970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11677810 PPOX protoporphyrinogen oxidase gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1321506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11677810 PPOX protoporphyrinogen oxidase gene DOID:1540 parathyroid carcinoma ISO RGD:1321506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11677810 PPOX protoporphyrinogen oxidase gene DOID:3890 acute intermittent porphyria ISO RGD:1321507 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.R59W (mouse) PMID:11929050|REF_RGD_ID:4145363 11677810 PPOX protoporphyrinogen oxidase gene DOID:4346 variegate porphyria ISO RGD:1321506 D RGD:7240710 20180207 OMIM 11677810 PPOX protoporphyrinogen oxidase gene DOID:4346 variegate porphyria ISO RGD:1321506 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Variegate porphyria | ClinVar Annotator: match by term: Variegate porphyria, homozygous PMID:10401000|PMID:10486317|PMID:10870850|PMID:11173967|PMID:11286631|PMID:11298551|PMID:11348478|PMID:11929051|PMID:12380696|PMID:12655566|PMID:12922165|PMID:15327556|PMID:16433813|PMID:17576681|PMID:18570668|PMID:1946837|PMID:19656457|PMID:19845869|PMID:21048046|PMID:21910705|PMID:23409300|PMID:24033266|PMID:25445397|PMID:25741868|PMID:27982422|PMID:28492532|PMID:28653968|PMID:29130490|PMID:33159949|PMID:3319294|PMID:8290408|PMID:8673113|PMID:8817334|PMID:8852667|PMID:9536098|PMID:9540991|PMID:9738863|PMID:9811936|PMID:9829909 11677810 PPOX protoporphyrinogen oxidase gene DOID:630 genetic disease ISO RGD:1321506 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10486317|PMID:11474578|PMID:11929051|PMID:12859407|PMID:21048046|PMID:24073655|PMID:28492532|PMID:9763307 11677810 PPOX protoporphyrinogen oxidase gene DOID:6364 migraine ISO RGD:1321506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Migraine PMID:25741868 11677810 PPOX protoporphyrinogen oxidase gene DOID:9005584 Hepatic Porphyrias ISO RGD:1321506 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G232R (human) PMID:8852667|REF_RGD_ID:1599172 11677810 PPOX protoporphyrinogen oxidase gene DOID:9005584 Hepatic Porphyrias ISO RGD:1321506 D RGD:9068941 20200609 RGD DNA:mutations:cds:multiple (human) PMID:10486317|REF_RGD_ID:1599176 11677810 PPOX protoporphyrinogen oxidase gene DOID:9005584 Hepatic Porphyrias ISO RGD:1321506 D RGD:9068941 20200609 RGD DNA:transition:cds:p.R59W (human) PMID:9254745|REF_RGD_ID:1599174 11677810 PPOX protoporphyrinogen oxidase gene DOID:9005584 Hepatic Porphyrias ISO RGD:1321507 D RGD:9068941 20200609 RGD protein:decreased activity:liver, kidney (mouse) PMID:9431441|REF_RGD_ID:4145281 11677810 PPOX protoporphyrinogen oxidase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1321506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 11677810 PPOX protoporphyrinogen oxidase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11677837 ITPR2 inositol 1,4,5-trisphosphate receptor type 2 gene DOID:0060603 isolated anhidrosis with normal sweat glands ISO RGD:734228 D RGD:7240710 20180130 OMIM 11677837 ITPR2 inositol 1,4,5-trisphosphate receptor type 2 gene DOID:0060603 isolated anhidrosis with normal sweat glands ISO RGD:734228 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated anhidrosis with normal sweat glands PMID:25329695|PMID:25741868|PMID:28492532 11677837 ITPR2 inositol 1,4,5-trisphosphate receptor type 2 gene DOID:1059 intellectual disability ISO RGD:734228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11677837 ITPR2 inositol 1,4,5-trisphosphate receptor type 2 gene DOID:332 amyotrophic lateral sclerosis susceptibility ISO RGD:734228 D RGD:9068941 20200609 RGD DNA:snp:intron:g.26636386A>G rs2306677 (human) PMID:17827064|REF_RGD_ID:6482791 11677837 ITPR2 inositol 1,4,5-trisphosphate receptor type 2 gene DOID:630 genetic disease ISO RGD:734228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11677837 ITPR2 inositol 1,4,5-trisphosphate receptor type 2 gene DOID:9003936 Cardiomegaly ISO RGD:734228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20616315 11677837 ITPR2 inositol 1,4,5-trisphosphate receptor type 2 gene DOID:9004756 Brain Hypoxia ISO RGD:734228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17285299 11677837 ITPR2 inositol 1,4,5-trisphosphate receptor type 2 gene DOID:9004756 Brain Hypoxia ISO RGD:737250 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebellum (mouse) PMID:17285299|REF_RGD_ID:6482794 11677898 FADS2 fatty acid desaturase 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:68475 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11677898 FADS2 fatty acid desaturase 2 gene DOID:1059 intellectual disability ISO RGD:68475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11677898 FADS2 fatty acid desaturase 2 gene DOID:3312 bipolar disorder ISO RGD:68475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 11677898 FADS2 fatty acid desaturase 2 gene DOID:630 genetic disease ISO RGD:68475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11677898 FADS2 fatty acid desaturase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:68475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11677898 FADS2 fatty acid desaturase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:68475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24836286 11677898 FADS2 fatty acid desaturase 2 gene DOID:9455 lipid storage disease ISO RGD:68475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21123845 11677918 HOMER1 homer scaffold protein 1 gene DOID:630 genetic disease ISO RGD:1354218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11677918 HOMER1 homer scaffold protein 1 gene DOID:9003126 Hallucinations ISO RGD:1354218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24126708 11677918 HOMER1 homer scaffold protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11677918 HOMER1 homer scaffold protein 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1354218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16160706|PMID:16314758 11677918 HOMER1 homer scaffold protein 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1354218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24126708 11677918 HOMER1 homer scaffold protein 1 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:1354218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24126708 11677938 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:0050563 nonsyndromic deafness ISO RGD:1316090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:30311386 11677938 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1316090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 11677938 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:0110440 dilated cardiomyopathy 1J ISO RGD:1316090 D RGD:7240710 20180130 OMIM 11677938 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:0110440 dilated cardiomyopathy 1J ISO RGD:1316090 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1J PMID:10769282|PMID:11159937|PMID:15735644|PMID:16199547|PMID:17576681|PMID:23861362|PMID:23990876|PMID:24033266|PMID:25242383|PMID:25681523|PMID:25741868|PMID:25781927|PMID:25961296|PMID:25963406|PMID:26084686|PMID:26467025|PMID:26969326|PMID:27068579|PMID:28492532|PMID:28767663|PMID:28798025|PMID:28831623|PMID:29030401|PMID:30123251|PMID:30165862|PMID:30311386|PMID:30828794|PMID:31163360|PMID:32107406|PMID:32277154|PMID:33745059|PMID:34426522|PMID:9536098 11677938 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:0110542 autosomal dominant nonsyndromic deafness 10 ISO RGD:1316090 D RGD:7240710 20180130 OMIM 11677938 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:0110542 autosomal dominant nonsyndromic deafness 10 ISO RGD:1316090 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 10 | ClinVar Annotator: match by term: EYA4-Related Disorders PMID:11159937|PMID:15735644|PMID:16199547|PMID:17567890|PMID:17568404|PMID:17576681|PMID:23861362|PMID:23990876|PMID:24033266|PMID:25681523|PMID:25741868|PMID:25781927|PMID:25963406|PMID:27068579|PMID:28492532|PMID:28798025|PMID:29030401|PMID:30165862|PMID:30828794|PMID:32107406|PMID:32277154|PMID:33745059|PMID:35802133|PMID:36633841|PMID:9536098 11677938 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:10003 sensorineural hearing loss ISO RGD:1316090 D RGD:9068941 20200609 RGD DNA:deletion:introns, exon (human) PMID:15735644|REF_RGD_ID:1598455 11677938 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:10754 otitis media ISO RGD:1316091 D RGD:9068941 20220825 MouseDO OMIM:166760 11677938 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1316090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 11677938 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:1316090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10769282|PMID:15735644|PMID:17567890|PMID:24033266 11677938 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:2661 myoepithelioma ISO RGD:1316090 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor PMID:24033266|PMID:25741868|PMID:28492532 11677938 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:6000 congestive heart failure ISO RGD:1316090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:25741868|PMID:28492532 11677938 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:630 genetic disease ISO RGD:1316090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11677938 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1316090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:31333075|PMID:31568572 11677938 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:9004538 Hearing Loss ISO RGD:1316090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:28492532|PMID:30311386 11677938 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1316090 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28492532 11677938 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1316090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant 11677938 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 11677973 BNIP5 BCL2 interacting protein 5 gene DOID:0050553 JMP syndrome ISO RGD:1605195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11677973 BNIP5 BCL2 interacting protein 5 gene DOID:10283 prostate cancer ISO RGD:1605195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11677990 LOC100981887 olfactory receptor 10Z1 gene DOID:0110918 hereditary spherocytosis type 3 ISO RGD:1350384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis type 3 11677990 LOC100981887 olfactory receptor 10Z1 gene DOID:12971 hereditary spherocytosis ISO RGD:1350384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spherocytosis, Recessive 11677990 LOC100981887 olfactory receptor 10Z1 gene DOID:1540 parathyroid carcinoma ISO RGD:1350384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11677990 LOC100981887 olfactory receptor 10Z1 gene DOID:2373 hereditary elliptocytosis ISO RGD:1350384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Elliptocytosis 11677990 LOC100981887 olfactory receptor 10Z1 gene DOID:630 genetic disease ISO RGD:1350384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11677990 LOC100981887 olfactory receptor 10Z1 gene DOID:9000212 Hereditary Pyropoikilocytosis ISO RGD:1350384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary 11677990 LOC100981887 olfactory receptor 10Z1 gene DOID:9000941 Elliptocytosis 2 ISO RGD:1350384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Elliptocytosis 2 11677990 LOC100981887 olfactory receptor 10Z1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11677995 LOC100984246 CMT1A duplicated region transcript 15 like 2 gene DOID:12849 autistic disorder ISO RGD:2298814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11677995 LOC100984246 CMT1A duplicated region transcript 15 like 2 gene DOID:630 genetic disease ISO RGD:2298814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678001 ZBTB9 zinc finger and BTB domain containing 9 gene DOID:0050553 JMP syndrome ISO RGD:1354226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11678001 ZBTB9 zinc finger and BTB domain containing 9 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1354226 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 11678001 ZBTB9 zinc finger and BTB domain containing 9 gene DOID:630 genetic disease ISO RGD:1354226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678013 C10H10orf62 chromosome 10 C10orf62 homolog gene DOID:630 genetic disease ISO RGD:1351899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678018 OXR1 oxidation resistance 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:736990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:31785787 11678018 OXR1 oxidation resistance 1 gene DOID:0070339 cerebellar hyplasia/atrophy, epilepsy, and global developmental delay ISO RGD:736990 D RGD:7240710 20200325 OMIM 11678018 OXR1 oxidation resistance 1 gene DOID:1826 epilepsy ISO RGD:736990 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:31785787 11678018 OXR1 oxidation resistance 1 gene DOID:630 genetic disease ISO RGD:736990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678018 OXR1 oxidation resistance 1 gene DOID:9004538 Hearing Loss ISO RGD:736990 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hearing impairment 11678051 LOC100989047 uncharacterized LOC100989047 gene DOID:9269 maple syrup urine disease ISO RGD:1353600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:16786533|PMID:22593002|PMID:24571530|PMID:28492532 11678068 PDHX pyruvate dehydrogenase complex component X gene DOID:1059 intellectual disability ISO RGD:1352009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11678068 PDHX pyruvate dehydrogenase complex component X gene DOID:1115 sarcoma treatment ISO RGD:1352009 D RGD:9068941 20220303 RGD PMID:31089155|REF_RGD_ID:151660332 11678068 PDHX pyruvate dehydrogenase complex component X gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:1352009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency 11678068 PDHX pyruvate dehydrogenase complex component X gene DOID:630 genetic disease ISO RGD:1352009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11678068 PDHX pyruvate dehydrogenase complex component X gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:1352009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:25741868|PMID:28492532 11678068 PDHX pyruvate dehydrogenase complex component X gene DOID:9003678 Pyruvate Dehydrogenase E3-Binding Protein Deficiency ISO RGD:1352009 D RGD:7240710 20190315 OMIM 11678068 PDHX pyruvate dehydrogenase complex component X gene DOID:9003678 Pyruvate Dehydrogenase E3-Binding Protein Deficiency ISO RGD:1352009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency PMID:11935326|PMID:12557299|PMID:16566017|PMID:16904023|PMID:17152059|PMID:21914562|PMID:21937992|PMID:25087164|PMID:25326635|PMID:25741868|PMID:28492532|PMID:8229524|PMID:8584393|PMID:9399911|PMID:9467010 11678087 ELF4 E74 like ETS transcription factor 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11678087 ELF4 E74 like ETS transcription factor 4 gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:1351734 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:24357419|PMID:28492532 11678087 ELF4 E74 like ETS transcription factor 4 gene DOID:12849 autistic disorder ISO RGD:1351734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11678087 ELF4 E74 like ETS transcription factor 4 gene DOID:630 genetic disease ISO RGD:1351734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678087 ELF4 E74 like ETS transcription factor 4 gene DOID:9005800 AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 ISO RGD:1351734 D RGD:7240710 20220615 OMIM 11678087 ELF4 E74 like ETS transcription factor 4 gene DOID:9005800 AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 ISO RGD:1351734 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 PMID:25741868|PMID:34326534|PMID:35266071 11678104 PML PML nuclear body scaffold gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1345145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 11678104 PML PML nuclear body scaffold gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1345145 D RGD:9068941 20210205 RGD human PML/RARA gene fusion in a mouse model PMID:9122233|REF_RGD_ID:41404695 11678104 PML PML nuclear body scaffold gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1345145 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:10742073|PMID:14706140|PMID:16788101|PMID:16835227|PMID:16891316|PMID:16935935|PMID:17294898|PMID:17649720|PMID:19029980|PMID:19035177|PMID:19884644|PMID:19887701|PMID:21345080|PMID:21613260|PMID:22213200|PMID:23208507|PMID:23734343|PMID:26285909|PMID:26728337|PMID:32882258|PMID:32929351|PMID:8616088 11678104 PML PML nuclear body scaffold gene DOID:10591 pre-eclampsia ISO RGD:1345145 D RGD:9068941 20210205 RGD mRNA:decreased expression:placenta (human) PMID:20228380|REF_RGD_ID:41404689 11678104 PML PML nuclear body scaffold gene DOID:1324 lung cancer ameliorates ISO RGD:1557220 D RGD:9068941 20210205 RGD PMID:25486572|REF_RGD_ID:41404692 11678104 PML PML nuclear body scaffold gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1345145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11678104 PML PML nuclear body scaffold gene DOID:2717 Bloom syndrome ISO RGD:1345145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11678104 PML PML nuclear body scaffold gene DOID:3007 breast ductal carcinoma ISO RGD:1345145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 11678104 PML PML nuclear body scaffold gene DOID:3068 glioblastoma ISO RGD:1345145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23440206 11678104 PML PML nuclear body scaffold gene DOID:4159 skin cancer severity ISO RGD:1345145 D RGD:9068941 20210205 RGD human gene in a mouse model PMID:19058256|REF_RGD_ID:41404688 11678104 PML PML nuclear body scaffold gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1345145 D RGD:9068941 20210205 RGD protein:decreased expression:kidney (human) PMID:25293974|REF_RGD_ID:41404694 11678104 PML PML nuclear body scaffold gene DOID:5408 Paget's disease of bone ISO RGD:1345145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21623375 11678104 PML PML nuclear body scaffold gene DOID:5419 schizophrenia ISO RGD:1345145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11678104 PML PML nuclear body scaffold gene DOID:630 genetic disease ISO RGD:1345145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678104 PML PML nuclear body scaffold gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1557220 D RGD:9068941 20210205 RGD mRNA:increased expression:liver (mouse) PMID:26118777|REF_RGD_ID:41404690 11678104 PML PML nuclear body scaffold gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1345145 D RGD:9068941 20210205 RGD protein:increased expression:liver (human) PMID:11511788|REF_RGD_ID:41404685 11678104 PML PML nuclear body scaffold gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1557220 D RGD:9068941 20210205 RGD associated with hepatitis C PMID:31144474|REF_RGD_ID:41404687 11678104 PML PML nuclear body scaffold gene DOID:9000645 Rotavirus Infections ISO RGD:1345145 D RGD:9068941 20210205 RGD associated with gastroenteritis;mRNA:decreased expression:blood (human) PMID:31677607|REF_RGD_ID:41404693 11678104 PML PML nuclear body scaffold gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29335545 11678104 PML PML nuclear body scaffold gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1345145 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20377131 11678104 PML PML nuclear body scaffold gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29335545 11678104 PML PML nuclear body scaffold gene DOID:9003370 Dyslipidemias ISO RGD:1345145 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 11678104 PML PML nuclear body scaffold gene DOID:9005715 Neoplasms, Second Primary ISO RGD:1345145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19884644 11678104 PML PML nuclear body scaffold gene DOID:9256 colorectal cancer ISO RGD:1345145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11678104 PML PML nuclear body scaffold gene DOID:9538 multiple myeloma severity ISO RGD:1345145 D RGD:9068941 20210205 RGD protein:increased expression:bone marrow (human) PMID:22906876|REF_RGD_ID:41404686 11678154 ODC1 ornithine decarboxylase 1 gene DOID:0060689 atrichia with papular lesions ISO RGD:1551973 D RGD:9068941 20220825 MouseDO OMIM:209500 11678154 ODC1 ornithine decarboxylase 1 gene DOID:2615 papilloma ISO RGD:731324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17928125 11678154 ODC1 ornithine decarboxylase 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:731324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 11678154 ODC1 ornithine decarboxylase 1 gene DOID:630 genetic disease ISO RGD:731324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678154 ODC1 ornithine decarboxylase 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:731324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12810952 11678154 ODC1 ornithine decarboxylase 1 gene DOID:9003013 Neurodevelopmental Disorder with Alopecia and Brain Abnormalities ISO RGD:731324 D RGD:7240710 20201111 OMIM 11678154 ODC1 ornithine decarboxylase 1 gene DOID:9003013 Neurodevelopmental Disorder with Alopecia and Brain Abnormalities ISO RGD:731324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with alopecia and brain abnormalities PMID:25741868|PMID:30239107 11678154 ODC1 ornithine decarboxylase 1 gene DOID:9004464 Skin Neoplasms ISO RGD:731324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2591024|PMID:7653998 11678154 ODC1 ornithine decarboxylase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:731324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21930798 11678175 LY96 lymphocyte antigen 96 gene DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ISO RGD:1349135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 PMID:21147908|PMID:28492532 11678175 LY96 lymphocyte antigen 96 gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:1349135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K PMID:15805163|PMID:20685671|PMID:21681106 11678175 LY96 lymphocyte antigen 96 gene DOID:0110185 Charcot-Marie-Tooth disease type 4A ISO RGD:1349135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A PMID:28492532 11678175 LY96 lymphocyte antigen 96 gene DOID:13580 cholestasis ISO RGD:1349135 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 11678175 LY96 lymphocyte antigen 96 gene DOID:305 carcinoma ISO RGD:1349135 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22180778 11678175 LY96 lymphocyte antigen 96 gene DOID:630 genetic disease ISO RGD:1349135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678175 LY96 lymphocyte antigen 96 gene DOID:7148 rheumatoid arthritis ISO RGD:1349135 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17379860 11678175 LY96 lymphocyte antigen 96 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349135 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22180778 11678175 LY96 lymphocyte antigen 96 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349135 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11678175 LY96 lymphocyte antigen 96 gene DOID:9003321 Bacterial Keratitis ISO RGD:1623303 D RGD:9068941 20200609 RGD associated with Serratia Infections; PMID:23033384|REF_RGD_ID:8662876 11678175 LY96 lymphocyte antigen 96 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1349135 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22180778 11678188 E2F7 E2F transcription factor 7 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1321054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 11678188 E2F7 E2F transcription factor 7 gene DOID:630 genetic disease ISO RGD:1321054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678188 E2F7 E2F transcription factor 7 gene DOID:9000918 Disease Progression ISO RGD:1321054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 11678218 MRTFA myocardin related transcription factor A gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1312564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11678218 MRTFA myocardin related transcription factor A gene DOID:0111998 immunodeficiency 66 ISO RGD:1312564 D RGD:7240710 20200429 OMIM 11678218 MRTFA myocardin related transcription factor A gene DOID:0111998 immunodeficiency 66 ISO RGD:1312564 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency 66 PMID:25741868|PMID:26224645|PMID:27479822|PMID:28492532 11678218 MRTFA myocardin related transcription factor A gene DOID:630 genetic disease ISO RGD:1312564 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678218 MRTFA myocardin related transcription factor A gene DOID:8761 acute megakaryocytic leukemia ISO RGD:1312564 D RGD:9068941 20200609 RGD PMID:11431691|REF_RGD_ID:1599948 11678274 ZSCAN5B zinc finger and SCAN domain containing 5B gene DOID:630 genetic disease ISO RGD:2293895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678292 NKIRAS1 NFKB inhibitor interacting Ras like 1 gene DOID:0111882 Diamond-Blackfan anemia 12 ISO RGD:1318403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 PMID:23812780|PMID:25741868|PMID:28492532 11678292 NKIRAS1 NFKB inhibitor interacting Ras like 1 gene DOID:630 genetic disease ISO RGD:1318403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:0050848 obstructive sleep apnea severity ISO RGD:1604061 D RGD:9068941 20200609 RGD mRNA:increased expression:faucial pillar, muscle (human) PMID:20847078|REF_RGD_ID:4891917 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:0060319 cardiac arrest ISO RGD:69069 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:19756023|REF_RGD_ID:4889980 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:0080208 non-alcoholic fatty liver disease disease_progression ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:27639593|REF_RGD_ID:14995335 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:27639593|REF_RGD_ID:14995335 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:0080546 non-alcoholic fatty liver ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:27639593|REF_RGD_ID:14995335 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:27639593|REF_RGD_ID:14995335 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:0080600 COVID-19 severity ISO RGD:1604061 D RGD:9068941 20200618 RGD protein:increased expression:serum (human) PMID:32427582|REF_RGD_ID:30309200 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:0080821 exercise-induced bronchoconstriction ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased secretion:lung, secretion (human) PMID:19996575|REF_RGD_ID:4892021 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:10247 pleurisy ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased secretion:lung (mouse) PMID:18672096|REF_RGD_ID:4890016 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:10534 stomach cancer disease_progression ISO RGD:1604061 D RGD:9068941 20220421 RGD mRNA:altered expression:stomach, tumor (human) PMID:29069277|REF_RGD_ID:151893464 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:10591 pre-eclampsia ISO RGD:69069 D RGD:9068941 20200609 RGD protein:increased secretion:serum (rat) PMID:19617880|REF_RGD_ID:2317272 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:10603 glucose intolerance ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:16306328|REF_RGD_ID:2307103 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:10652 Alzheimer's disease ISO RGD:1604061 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebrum, blood vessels (human) PMID:18440671|REF_RGD_ID:4890025 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:10763 hypertension ISO RGD:1604061 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum PMID:15668187|REF_RGD_ID:2307105 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:11204 allergic conjunctivitis ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:conjunctiva PMID:12682842|REF_RGD_ID:2307196 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:11446 sciatic neuropathy ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:sciatic nerve (rat) PMID:19152028|REF_RGD_ID:4890004 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:12140 Chagas disease ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:20452453|REF_RGD_ID:4889906 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:12236 primary biliary cholangitis ISO RGD:1604061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12126966 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:12236 primary biliary cholangitis ISO RGD:1604061 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:15770052|REF_RGD_ID:14995336 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:12351 alcoholic hepatitis ISO RGD:1604061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12586603 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:12351 alcoholic hepatitis treatment ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:31258651|REF_RGD_ID:14995304 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:12375 bronchopneumonia ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:20350425|REF_RGD_ID:4892019 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:12574 posterior uveitis ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:aqueous humor, vitreous body (rat) PMID:19232006|REF_RGD_ID:4889998 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:69127 D RGD:9068941 20200609 RGD protein:altered expression:lung, T cell (mouse) PMID:19124761|REF_RGD_ID:4891880 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:13141 uveitis ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:conjunctiva, ciliary body PMID:19104678|REF_RGD_ID:2306302 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased secretion:lung, secretion (mouse) PMID:18717637|REF_RGD_ID:4891914 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1604061 D RGD:9068941 20200609 RGD mRNA:increased expression:lung:bronchoalveolar lavage cell (human) PMID:10384061|REF_RGD_ID:4891436 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:13976 peptic esophagitis ISO RGD:69069 D RGD:9068941 20200609 RGD associated with Asthma;mRNA:increased expression:esophagus PMID:18222984|REF_RGD_ID:2307110 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:1790 malignant mesothelioma ISO RGD:1604061 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:1793 pancreatic cancer ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:19155524|REF_RGD_ID:2317567 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:1883 hepatitis C susceptibility ISO RGD:1604061 D RGD:9068941 20200609 RGD associated with Intravenous Substance Abuse;DNA:haplotype: :rs2107538A,rs2280788G,rs2280789C (human) PMID:27304910|REF_RGD_ID:14401735 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:2043 hepatitis B disease_progression ISO RGD:1604061 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:19017985|REF_RGD_ID:14995327 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:2043 hepatitis B disease_progression ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:30536991|REF_RGD_ID:14401739 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:2043 hepatitis B susceptibility ISO RGD:1604061 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:-403G>A,-28C>G (human) PMID:22576913|PMID:23336202|REF_RGD_ID:14995330|REF_RGD_ID:14995331 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:2048 autoimmune hepatitis ISO RGD:1604061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:2349 arteriosclerosis ISO RGD:69069 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16259780|REF_RGD_ID:2307165 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:2349 arteriosclerosis ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:14656931|REF_RGD_ID:4890030 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:2349 arteriosclerosis ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased secretion:serum (mouse) PMID:19752857|REF_RGD_ID:4891452 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:2377 multiple sclerosis ISO RGD:1604061 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, frontal cortex (human) PMID:11091283|REF_RGD_ID:4890028 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:2518 orchitis ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:11897701|REF_RGD_ID:704384 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:2799 bronchiolitis obliterans ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:14611812|REF_RGD_ID:2307195 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:2799 bronchiolitis obliterans ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:19840961|REF_RGD_ID:4889978 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:2841 asthma ISO RGD:1604061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8534483 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:2841 asthma ISO RGD:69069 D RGD:9068941 20200609 RGD protein:increased expression:smooth muscle cell PMID:18208670|REF_RGD_ID:2307112 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:2841 asthma ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased expression:lung, secretion (mouse) PMID:20092989|REF_RGD_ID:4891430 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:2841 asthma susceptibility ISO RGD:1604061 D RGD:9068941 20200609 RGD DNA:transition:5' utr:-403G>A (human) PMID:20430255|REF_RGD_ID:4891381 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:289 endometriosis ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium (human) PMID:18595729|REF_RGD_ID:2307108 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:2921 glomerulonephritis ISO RGD:1604061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10385480 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1604061 D RGD:9068941 20200702 RGD protein:increased expression:bronchoalveolar lavage (human) PMID:15888207|REF_RGD_ID:34201108 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:2945 severe acute respiratory syndrome ISO RGD:69127 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:2945 severe acute respiratory syndrome ISO RGD:69127 D RGD:9068941 20200619 RGD mRNA, protein: increased expression, altered expression:lung, brain (mouse) PMID:15356152|REF_RGD_ID:30309221 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1604061 D RGD:9068941 20200618 RGD Severe Acute Respiratory Syndrome; DNA:transversion:5' utr:-28C>G (human) PMID:19258635|REF_RGD_ID:4891448 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1604061 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:16195357|REF_RGD_ID:30309218 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:69127 D RGD:9068941 20200618 RGD mRNA:increased expression:lung (mouse) PMID:32365944|REF_RGD_ID:30309207 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1604061 D RGD:9068941 20200702 RGD PMID:15781938|PMID:15865221|REF_RGD_ID:30309220|REF_RGD_ID:33769580 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:69127 D RGD:9068941 20200702 RGD PMID:32553273|REF_RGD_ID:32716426 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:2957 pulmonary tuberculosis ISO RGD:1604061 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:15128813|REF_RGD_ID:4892112 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1604061 D RGD:9068941 20200609 RGD DNA:snps:5' utr:g.-403G>A rs2280788, g.-28C>G rs2107538 (human) PMID:19335954|REF_RGD_ID:4891879 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:3008 invasive ductal carcinoma ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased expression:breast, ductal carcinoma (human) PMID:18790652|REF_RGD_ID:4891911 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:3021 acute kidney failure ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased secretion:serum (mouse) PMID:19508392|REF_RGD_ID:4889990 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:3042 allergic contact dermatitis ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased expression:ear (mouse) PMID:15491423|REF_RGD_ID:1626251 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:3082 interstitial lung disease ISO RGD:69127 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:20089076|REF_RGD_ID:4891431 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1604061 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung, bronchial epithelium, submucosa (human) PMID:19703829|REF_RGD_ID:4891477 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:3310 atopic dermatitis ISO RGD:1604061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased secretion:lung, alveolar macrophage (human) PMID:19729668|REF_RGD_ID:4891476 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:3770 pulmonary fibrosis ISO RGD:1604061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17620002 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:3770 pulmonary fibrosis ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:20833968|REF_RGD_ID:4145112 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:17898087|REF_RGD_ID:2307059 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:4989 pancreatitis ISO RGD:1604061 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms;DNA:polymorphism: :-403G>A (human) PMID:16614115|REF_RGD_ID:2317568 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:4989 pancreatitis ISO RGD:69069 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (rat) PMID:16843865|REF_RGD_ID:2307146 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:5082 liver cirrhosis severity ISO RGD:1604061 D RGD:9068941 20200609 RGD PMID:20978355|PMID:28011329|REF_RGD_ID:14995306|REF_RGD_ID:14995328 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:5082 liver cirrhosis severity ISO RGD:1604061 D RGD:9068941 20200609 RGD DNA:SNAP, haplotype: :rs11652536(human) PMID:20978355|REF_RGD_ID:14995328 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:5082 liver cirrhosis treatment ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:28011329|REF_RGD_ID:14995306 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy ISO RGD:69127 D RGD:9068941 20200609 RGD mRNA:increased expression:sciatic nerve (mouse) PMID:19050296|REF_RGD_ID:4890012 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1604061 D RGD:7240710 20230505 OMIM 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1604061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, delayed disease progression with infection by | ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid disease progression with infection by PMID:10200305|PMID:12114533|PMID:12610055 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:5434 scrapie ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:22787236|REF_RGD_ID:13782158 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:557 kidney disease ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:15882261|REF_RGD_ID:2307176 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:5844 myocardial infarction ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (rat) PMID:18954648|REF_RGD_ID:4890013 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:630 genetic disease ISO RGD:1604061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:6432 pulmonary hypertension ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:19932032|REF_RGD_ID:4891440 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1604061 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:-403G>A,-28C>G (human) PMID:22374185|REF_RGD_ID:14995333 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1604061 D RGD:9068941 20200609 RGD associated with alcoholic liver cirrhosis;DNA:SNP:promoter:-403G>A(human) PMID:21610221|REF_RGD_ID:14995338 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:28011329|REF_RGD_ID:14995306 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:783 end stage renal disease ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney cortex (rat) PMID:19535570|REF_RGD_ID:4889989 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1604061 D RGD:9068941 20200609 RGD mRNA:increased expression:lung:bronchoalveolar lavage cell (human) PMID:10384061|REF_RGD_ID:4891436 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:841 extrinsic allergic alveolitis ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased secretion:lung, secretion (mouse) PMID:16387809|REF_RGD_ID:4891434 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:850 lung disease ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17304115|REF_RGD_ID:2307141 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:8704 genital herpes ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:12502811|REF_RGD_ID:4890015 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:8947 diabetic retinopathy ISO RGD:1604061 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor PMID:18978347|REF_RGD_ID:2307061 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:8947 diabetic retinopathy severity ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16249511|REF_RGD_ID:2307104 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9000039 Spinal Cord Injuries ISO RGD:69127 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord segment (mouse) PMID:20478301|REF_RGD_ID:4889905 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9000641 Pain ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:11438578|REF_RGD_ID:2306307 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:69127 D RGD:9068941 20200609 RGD associated with Animal Mammary Neoplasms; PMID:15692764|REF_RGD_ID:14995455 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9000972 Fever ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:15066130|REF_RGD_ID:2307192 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9001488 Human Influenza ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:20656925|REF_RGD_ID:4145452 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9001488 Human Influenza susceptibility ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:16208318|REF_RGD_ID:4892131 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69127 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver PMID:20978355|REF_RGD_ID:14995328 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9001573 Experimental Liver Cirrhosis disease_progression ISO RGD:1322355 D RGD:9068941 20200609 RGD PMID:25617348|REF_RGD_ID:14995329 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9001573 Experimental Liver Cirrhosis severity ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:20978355|REF_RGD_ID:14995328 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:22574195|REF_RGD_ID:14995337 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9002106 Pneumococcal Pneumonia susceptibility ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:16455992|REF_RGD_ID:4892130 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9002159 Liver Reperfusion Injury severity ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:28623253|REF_RGD_ID:14995305 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:28623253|REF_RGD_ID:14995305 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1604061 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:urine PMID:18326229|REF_RGD_ID:2307063 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:1604061 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:-28C>G PMID:12610055|REF_RGD_ID:2307107 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9002211 Hyperalgesia ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:18656466|REF_RGD_ID:2303121 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9002211 Hyperalgesia ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal root ganglion (rat) PMID:18076762|REF_RGD_ID:4890034 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9002457 Experimental Arthritis ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:9637726|REF_RGD_ID:4889940 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9002457 Experimental Arthritis ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:synovium, monocytes PMID:17052673|REF_RGD_ID:2307143 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9002762 Ovarian Neoplasms severity ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:20400704|REF_RGD_ID:4891397 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:17666800|REF_RGD_ID:2307114 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased expression:brain (mouse) PMID:15833367|REF_RGD_ID:4890027 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9002834 Herpesviridae Infections ISO RGD:69127 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:18768196|REF_RGD_ID:4891912 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium PMID:15823807|REF_RGD_ID:2307177 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9003281 Spontaneous Abortions ISO RGD:1604061 D RGD:9068941 20200609 RGD associated with Pregnancy in Diabetics;protein:decreased expression:serum PMID:17924206|REF_RGD_ID:2307065 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9003671 Hypoventilation ISO RGD:1604061 D RGD:9068941 20200609 RGD associated with Obesity; protein:increased secretion:serum (human) PMID:19701463|REF_RGD_ID:4892041 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9004009 Reperfusion Injury ISO RGD:69069 D RGD:9068941 20200609 RGD protein:increased expression:gut PMID:15542513|REF_RGD_ID:2307184 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9004009 Reperfusion Injury ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased secretion:lung, secretion (mouse) PMID:19558673|REF_RGD_ID:4891479 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1604061 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:15770052|REF_RGD_ID:14995336 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1604061 D RGD:9068941 20200609 RGD DNA:SNP: :rs3817656(human) PMID:29703961|REF_RGD_ID:14995334 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:1604061 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-403G>A(human) PMID:12557141|REF_RGD_ID:14995332 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1604061 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: : PMID:15368437|REF_RGD_ID:14995340 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9004484 Sepsis ISO RGD:69069 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (rat) PMID:18290317|REF_RGD_ID:4890036 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1604061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18985009 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9004590 Acute Liver Failure ISO RGD:1604061 D RGD:9068941 20200609 RGD protein, mRNA:increased expression:liver PMID:12579535|REF_RGD_ID:14995451 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9004659 Respiration Disorders ISO RGD:69127 D RGD:9068941 20200609 RGD Severe Acute Respiratory Syndrome; mRNA:increased expression:lung (mouse) PMID:19906920|REF_RGD_ID:4891446 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9004912 Hyperoxaluria ISO RGD:1604061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16284884 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9004912 Hyperoxaluria ISO RGD:69069 D RGD:9068941 20200609 RGD protein:increased expression:renal tubule, epithelial cell (rat) PMID:16284884|REF_RGD_ID:2307164 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9005106 Animal Toxoplasmosis ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:blood vessel endothelial cell PMID:15710456|REF_RGD_ID:2307183 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9005372 Inflammation ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:subcutaneous tissue, granuloma (rat) PMID:17164972|REF_RGD_ID:2307142 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9005372 Inflammation ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased secretion:lung, secretion (mouse) PMID:19486528|REF_RGD_ID:4891481 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9005930 Endotoxemia ISO RGD:69069 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16215387|REF_RGD_ID:2307171 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased secretion:lung, secretion (human) PMID:18513272|REF_RGD_ID:4891916 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9006618 Liver Metastasis treatment ISO RGD:69127 D RGD:9068941 20200609 RGD associated with Animal Mammary Neoplasms; PMID:15692764|REF_RGD_ID:14995455 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9006646 Metabolic Syndrome ISO RGD:69069 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (rat) PMID:19905967|REF_RGD_ID:4889977 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:19005677|REF_RGD_ID:4891884 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:1604061 D RGD:9068941 20200609 RGD DNA:snp:5' utr:g.-28C>G (human) PMID:19099677|REF_RGD_ID:4891881 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9007090 Experimental Seizures ISO RGD:69069 D RGD:9068941 20230128 RGD protein:increased expression:hippocampus, vasculature (rat) PMID:20940264|REF_RGD_ID:4889880 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9007244 Paramyxoviridae Infections ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucus (human) PMID:20182399|REF_RGD_ID:4891406 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9007417 Pseudomonas Infections ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased expression:lung, secretion (mouse) PMID:20720199|REF_RGD_ID:4891951 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:69127 D RGD:9068941 20200702 RGD PMID:27175332|REF_RGD_ID:32733623 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased expression:inferior turbinate, epithelium (human) PMID:20459697|REF_RGD_ID:4891379 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9008113 Tissue Adhesions ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:18707039|REF_RGD_ID:4890014 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:1604061 D RGD:9068941 20200609 RGD PMID:17711627|REF_RGD_ID:14995339 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9008939 Breast Neoplasms ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:18708360|REF_RGD_ID:4891915 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9351 diabetes mellitus ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18385799|REF_RGD_ID:2307062 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17966842|REF_RGD_ID:2307064 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9452 fatty liver disease ISO RGD:1604061 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:28011329|REF_RGD_ID:14995306 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9452 fatty liver disease ISO RGD:69127 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:28011329|REF_RGD_ID:14995306 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9743 diabetic neuropathy ISO RGD:1604061 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;protein:increased expression:serum PMID:19276232|REF_RGD_ID:2307060 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1604061 D RGD:9068941 20200609 RGD DNA:SNPs:rs4251719, rs2306630, rs2107538 (human) PMID:16855620|REF_RGD_ID:2307102 11678301 CCL5 C-C motif chemokine ligand 5 gene DOID:9970 obesity ISO RGD:69069 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18469848|REF_RGD_ID:2307038 11678331 SERPINI2 serpin family I member 2 gene DOID:0060479 Shwachman-Diamond syndrome ISO RGD:737029 D RGD:9068941 20220825 MouseDO OMIM:260400 11678331 SERPINI2 serpin family I member 2 gene DOID:630 genetic disease ISO RGD:737028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678349 SEMA6B semaphorin 6B gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:731900 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure PMID:25741868 11678349 SEMA6B semaphorin 6B gene DOID:0070338 cerebellar hypoplasia ISO RGD:731900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 11678349 SEMA6B semaphorin 6B gene DOID:0080600 COVID-19 ISO RGD:731900 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11678349 SEMA6B semaphorin 6B gene DOID:1059 intellectual disability ISO RGD:731900 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11678349 SEMA6B semaphorin 6B gene DOID:12849 autistic disorder ISO RGD:731900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 11678349 SEMA6B semaphorin 6B gene DOID:13938 amenorrhea ISO RGD:731900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11678349 SEMA6B semaphorin 6B gene DOID:630 genetic disease ISO RGD:731900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11678349 SEMA6B semaphorin 6B gene DOID:9000895 Preterm Intraventricular Hemorrhage ISO RGD:731900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Grade I preterm intraventricular hemorrhage PMID:31474318 11678349 SEMA6B semaphorin 6B gene DOID:9003902 Progressive Myoclonus Epilepsy 11 ISO RGD:731900 D RGD:7240710 20200520 OMIM 11678349 SEMA6B semaphorin 6B gene DOID:9003902 Progressive Myoclonus Epilepsy 11 ISO RGD:731900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 11 PMID:25741868|PMID:28492532|PMID:32169168|PMID:35604360 11678372 PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:0080307 myofibrillar myopathy ISO RGD:1605346 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11678372 PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:0080308 myofibrillar myopathy 8 ISO RGD:1605346 D RGD:7240710 20190315 OMIM 11678372 PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:0080308 myofibrillar myopathy 8 ISO RGD:1605346 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 8 PMID:17576681|PMID:25741868|PMID:27745833|PMID:28492532|PMID:30345904|PMID:30515627|PMID:31455395|PMID:32037607|PMID:33694278|PMID:9536098 11678372 PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:1605346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:28492532 11678372 PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:32566746 11678372 PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:630 genetic disease ISO RGD:1605346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11678372 PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532|PMID:30224651 11678372 PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605346 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532|PMID:28724667|PMID:29351780|PMID:30224651|PMID:32566746 11678388 TFCP2L1 transcription factor CP2 like 1 gene DOID:630 genetic disease ISO RGD:1313494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678388 TFCP2L1 transcription factor CP2 like 1 gene DOID:784 chronic kidney disease ISO RGD:1313494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:33097957 11678407 LPAR6 lysophosphatidic acid receptor 6 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1349646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11678407 LPAR6 lysophosphatidic acid receptor 6 gene DOID:0080124 mitochondrial DNA depletion syndrome 5 ISO RGD:1349646 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:15877282|PMID:17301081|PMID:26475597|PMID:28492532 11678407 LPAR6 lysophosphatidic acid receptor 6 gene DOID:0110698 hypotrichosis 1 ISO RGD:1349646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18297070 11678407 LPAR6 lysophosphatidic acid receptor 6 gene DOID:0110705 hypotrichosis 8 ISO RGD:1349646 D RGD:7240710 20220216 OMIM 11678407 LPAR6 lysophosphatidic acid receptor 6 gene DOID:0110705 hypotrichosis 8 ISO RGD:1349646 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hypotrichosis 8 PMID:18297070|PMID:18297072|PMID:18461368|PMID:21070332|PMID:21426374|PMID:25119526|PMID:25741868 11678407 LPAR6 lysophosphatidic acid receptor 6 gene DOID:1059 intellectual disability ISO RGD:1349646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11678407 LPAR6 lysophosphatidic acid receptor 6 gene DOID:4535 hypotrichosis ISO RGD:1349646 D RGD:9068941 20220217 CTD CTD Direct Evidence: marker/mechanism PMID:18297072 11678407 LPAR6 lysophosphatidic acid receptor 6 gene DOID:630 genetic disease ISO RGD:1349646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678407 LPAR6 lysophosphatidic acid receptor 6 gene DOID:768 retinoblastoma ISO RGD:1349646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma PMID:12541220|PMID:15877282|PMID:17096365|PMID:17301081|PMID:21505449|PMID:22909775|PMID:23301675|PMID:25640679|PMID:26475597|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255 11678407 LPAR6 lysophosphatidic acid receptor 6 gene DOID:768 retinoblastoma ISO RGD:1349646 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:12541220|PMID:17096365|PMID:21505449|PMID:22909775|PMID:23301675|PMID:25640679|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255 11678407 LPAR6 lysophosphatidic acid receptor 6 gene DOID:9001083 Autosomal Recessive Woolly Hair ISO RGD:1349646 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Woolly hair, autosomal recessive 1, with or without hypotrichosis PMID:18297072|PMID:18461368|PMID:21426374|PMID:25741868 11678419 ADAL adenosine deaminase like gene DOID:2717 Bloom syndrome ISO RGD:1605272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11678419 ADAL adenosine deaminase like gene DOID:630 genetic disease ISO RGD:1605272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678419 ADAL adenosine deaminase like gene DOID:9256 colorectal cancer ISO RGD:1605272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11678433 UMOD uromodulin gene DOID:0060062 familial juvenile hyperuricemic nephropathy ISO RGD:737075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant tubulointerstitial kidney disease PMID:20172860|PMID:21868615|PMID:23748428|PMID:25741868|PMID:28492532|PMID:28781372|PMID:29204651|PMID:30773290|PMID:31068150|PMID:31509055|PMID:31822006|PMID:32274456|PMID:32450155|PMID:32926855 11678433 UMOD uromodulin gene DOID:10763 hypertension ISO RGD:737075 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 11678433 UMOD uromodulin gene DOID:10825 essential hypertension ISO RGD:737075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential hypertension 11678433 UMOD uromodulin gene DOID:557 kidney disease ISO RGD:737075 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:14531790|PMID:23988501|PMID:25741868|PMID:26467025|PMID:28492532 11678433 UMOD uromodulin gene DOID:630 genetic disease ISO RGD:737075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16883323|PMID:25741868|PMID:28492532 11678433 UMOD uromodulin gene DOID:784 chronic kidney disease ISO RGD:737075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868 11678433 UMOD uromodulin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3940 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:10925066|REF_RGD_ID:2324705 11678433 UMOD uromodulin gene DOID:9007051 Autosomal Dominant Tubulointerstitial Kidney Disease 1 ISO RGD:737075 D RGD:7240710 20180130 OMIM 11678433 UMOD uromodulin gene DOID:9007051 Autosomal Dominant Tubulointerstitial Kidney Disease 1 ISO RGD:737075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glomerulocystic kidney disease with hyperuricemia and isosthenuria | ClinVar Annotator: match by term: Medullary cystic kidney disease 2 | ClinVar Annotator: match by term: Medullary cystic kidney disease 2, autosomal dominant | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 | ClinVar Annotator: match by term: UMOD-Associated Kidney Disease | ClinVar Annotator: match by term: Uromodulin-associated kidney disease PMID:10330352|PMID:12205338|PMID:12471200|PMID:12519891|PMID:12629136|PMID:12634862|PMID:14531790|PMID:14569098|PMID:14570709|PMID:15253706|PMID:15589826|PMID:16135773|PMID:16883323|PMID:17010121|PMID:17245395|PMID:19465746|PMID:20172860|PMID:20472742|PMID:21060763|PMID:21868615|PMID:22117067|PMID:22693617|PMID:23748428|PMID:23988501|PMID:24670410|PMID:24961278|PMID:25741868|PMID:26467025|PMID:27729211|PMID:27795632|PMID:28166811|PMID:28492532|PMID:28781372|PMID:28990932|PMID:29204651|PMID:29212948|PMID:30099615|PMID:30376835|PMID:30773290|PMID:31068150|PMID:31509055|PMID:31822006|PMID:32274456|PMID:32450155|PMID:32926855|PMID:32954071|PMID:33532864|PMID:33574344|PMID:34519781|PMID:7396593 11678455 POLL DNA polymerase lambda gene DOID:0090020 split hand-foot malformation ISO RGD:1317600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation PMID:21681106 11678455 POLL DNA polymerase lambda gene DOID:630 genetic disease ISO RGD:1317600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678494 RGMB repulsive guidance molecule BMP co-receptor b gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350725 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11678494 RGMB repulsive guidance molecule BMP co-receptor b gene DOID:630 genetic disease ISO RGD:1350725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678494 RGMB repulsive guidance molecule BMP co-receptor b gene DOID:7148 rheumatoid arthritis ISO RGD:1350725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 11678494 RGMB repulsive guidance molecule BMP co-receptor b gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 11678494 RGMB repulsive guidance molecule BMP co-receptor b gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11678494 RGMB repulsive guidance molecule BMP co-receptor b gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350725 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11678501 ZNF135 zinc finger protein 135 gene DOID:630 genetic disease ISO RGD:1349048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678530 ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:1321433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 11678530 ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 gene DOID:0080600 COVID-19 ISO RGD:1321433 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11678530 ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1321433 D RGD:7240710 20180130 OMIM 11678530 ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1321433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:10417273|PMID:15373769|PMID:15389701|PMID:16199547|PMID:1642226|PMID:16770806|PMID:17090394|PMID:17576681|PMID:18973246|PMID:21567906|PMID:22863189|PMID:23495203|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25640679|PMID:25741868|PMID:26765342|PMID:28128410|PMID:28346524|PMID:28492532|PMID:29843651|PMID:33389145|PMID:7735500|PMID:8215497|PMID:8986271|PMID:9536098 11678530 ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1321433 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11678530 ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1321433 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:22863189|PMID:25741868|PMID:28346524|PMID:28492532|PMID:29843651 11678530 ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 gene DOID:13359 Ehlers-Danlos syndrome susceptibility ISO RGD:1321433 D RGD:9068941 20200609 RGD PMID:10417273|REF_RGD_ID:1598739 11678530 ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 gene DOID:1790 malignant mesothelioma ISO RGD:1321433 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26139392 11678530 ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 gene DOID:630 genetic disease ISO RGD:1321433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11678530 ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 gene DOID:9007096 Stroke susceptibility ISO RGD:1321433 D RGD:9068941 20200609 RGD DNA:SNP::rs469568(human) PMID:22990015|REF_RGD_ID:9681739 11678559 UGP2 UDP-glucose pyrophosphorylase 2 gene DOID:0112218 developmental and epileptic encephalopathy 83 ISO RGD:1320978 D RGD:7240710 20200226 OMIM 11678559 UGP2 UDP-glucose pyrophosphorylase 2 gene DOID:0112218 developmental and epileptic encephalopathy 83 ISO RGD:1320978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 83 PMID:25741868|PMID:28492532|PMID:31820119 11678559 UGP2 UDP-glucose pyrophosphorylase 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1320978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11678559 UGP2 UDP-glucose pyrophosphorylase 2 gene DOID:630 genetic disease ISO RGD:1320978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678573 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1342584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:10944442|PMID:15269216|PMID:19364667|PMID:22033105|PMID:22200994|PMID:25741868|PMID:28492532|PMID:31292494|PMID:31386302|PMID:32860008 11678573 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:0080600 COVID-19 ISO RGD:1342584 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11678573 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1342584 D RGD:7240710 20190213 OMIM 11678573 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1342584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:10944442|PMID:11181577|PMID:12616398|PMID:12944388|PMID:14765537|PMID:15269216|PMID:17383918|PMID:19107570|PMID:19364667|PMID:20818383|PMID:22033105|PMID:22200994|PMID:22326555|PMID:24020637|PMID:25741868|PMID:28492532|PMID:30634555|PMID:31292494|PMID:31386302|PMID:32860008|PMID:33093004|PMID:34849584|PMID:9463323 11678573 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:14330 Parkinson's disease ISO RGD:1556886 D RGD:9068941 20200609 RGD PMID:21383081|REF_RGD_ID:6484691 11678573 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:3650 lactic acidosis ISO RGD:1342584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lactic acidosis PMID:25741868|PMID:33093004 11678573 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:3652 Leigh disease ISO RGD:1342584 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:10944442|PMID:11112787|PMID:12616398|PMID:12944388|PMID:14765537|PMID:15269216|PMID:16213125|PMID:17383918|PMID:18804471|PMID:19107570|PMID:19364667|PMID:20818383|PMID:22033105|PMID:22200994|PMID:22326555|PMID:24020637|PMID:25741868|PMID:27079373|PMID:28492532|PMID:30634555|PMID:32860008|PMID:34849584|PMID:9463323 11678573 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:3652 Leigh disease ISO RGD:1342584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:10944442|PMID:11112787|PMID:12616398|PMID:12944388|PMID:14765537|PMID:15269216|PMID:16213125|PMID:17383918|PMID:18804471|PMID:19107570|PMID:19364667|PMID:20818383|PMID:22033105|PMID:22200994|PMID:22326555|PMID:24020637|PMID:25741868|PMID:27079373|PMID:28492532|PMID:30634555|PMID:31292494|PMID:31386302|PMID:32860008|PMID:34849584|PMID:9463323 11678573 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:630 genetic disease ISO RGD:1342584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11165261|PMID:19107570|PMID:19364667|PMID:20433953|PMID:20818383|PMID:24020637|PMID:25741868|PMID:28492532|PMID:28844695 11678573 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11678573 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:9005683 Metabolic Brain Diseases, Inborn ISO RGD:1556886 D RGD:9068941 20200609 RGD PMID:18396137|REF_RGD_ID:6484689 11678573 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:936 brain disease ISO RGD:1342584 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24935635 11678573 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:9923 developmental coordination disorder ISO RGD:1342584 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24935635 11678594 BFAR bifunctional apoptosis regulator gene DOID:630 genetic disease ISO RGD:1312438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678613 ARC activity regulated cytoskeleton associated protein gene DOID:10652 Alzheimer's disease ISO RGD:730952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18503570 11678613 ARC activity regulated cytoskeleton associated protein gene DOID:11832 visual epilepsy ISO RGD:62037 D RGD:9068941 20200609 RGD PMID:23744421|REF_RGD_ID:10395306 11678613 ARC activity regulated cytoskeleton associated protein gene DOID:3525 middle cerebral artery infarction ISO RGD:62037 D RGD:9068941 20200609 RGD PMID:22645329|REF_RGD_ID:10395314 11678613 ARC activity regulated cytoskeleton associated protein gene DOID:480 movement disease ISO RGD:730952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20298714 11678613 ARC activity regulated cytoskeleton associated protein gene DOID:630 genetic disease ISO RGD:730952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678613 ARC activity regulated cytoskeleton associated protein gene DOID:9001733 Tinnitus ISO RGD:62037 D RGD:9068941 20200609 RGD mRNA:decreased expression:auditory cortex: PMID:18524887|REF_RGD_ID:8655535 11678613 ARC activity regulated cytoskeleton associated protein gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:62037 D RGD:9068941 20200609 RGD PMID:17275194|REF_RGD_ID:8655559 11678613 ARC activity regulated cytoskeleton associated protein gene DOID:9004538 Hearing Loss ISO RGD:62037 D RGD:9068941 20200609 RGD mRNA:decreased expression:auditory cortex: PMID:18524887|REF_RGD_ID:8655535 11678613 ARC activity regulated cytoskeleton associated protein gene DOID:9004538 Hearing Loss treatment ISO RGD:730952 D RGD:9068941 20200609 RGD PMID:18607918|REF_RGD_ID:8655538 11678613 ARC activity regulated cytoskeleton associated protein gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18311559 11678625 DUSP7 dual specificity phosphatase 7 gene DOID:0080600 COVID-19 ISO RGD:1350752 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11678625 DUSP7 dual specificity phosphatase 7 gene DOID:630 genetic disease ISO RGD:1350752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678632 CFAP57 cilia and flagella associated protein 57 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11678632 CFAP57 cilia and flagella associated protein 57 gene DOID:630 genetic disease ISO RGD:1603569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678632 CFAP57 cilia and flagella associated protein 57 gene DOID:9007802 GLUT1 Deficiency Syndrome ISO RGD:1603569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive PMID:28492532 11678632 CFAP57 cilia and flagella associated protein 57 gene DOID:9008934 Van der Woude Syndrome 2 ISO RGD:1603569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Van der Woude syndrome 2 PMID:21574244 11678632 CFAP57 cilia and flagella associated protein 57 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1603569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:32764743 11678663 MARCHF7 membrane associated ring-CH-type finger 7 gene DOID:12849 autistic disorder ISO RGD:1603971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 11678663 MARCHF7 membrane associated ring-CH-type finger 7 gene DOID:630 genetic disease ISO RGD:1603971 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678719 C12H12orf56 chromosome 12 C12orf56 homolog gene DOID:630 genetic disease ISO RGD:1603368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678743 NUDCD1 NudC domain containing 1 gene DOID:630 genetic disease ISO RGD:1349940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678770 C2BH2orf76 chromosome 2B C2orf76 homolog gene DOID:630 genetic disease ISO RGD:1606162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678794 LOC100994951 ficolin-1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1351597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 11678794 LOC100994951 ficolin-1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1351597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11678794 LOC100994951 ficolin-1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1351597 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11678794 LOC100994951 ficolin-1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1351597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11678794 LOC100994951 ficolin-1 gene DOID:0081097 Rafiq syndrome ISO RGD:1351597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11678794 LOC100994951 ficolin-1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1351597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 11678794 LOC100994951 ficolin-1 gene DOID:3652 Leigh disease ISO RGD:1351597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11678794 LOC100994951 ficolin-1 gene DOID:630 genetic disease ISO RGD:1351597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678794 LOC100994951 ficolin-1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351597 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11678794 LOC100994951 ficolin-1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1351597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:28492532|PMID:29907982 11678794 LOC100994951 ficolin-1 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:1351597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 11678807 TMEM50B transmembrane protein 50B gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1316828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11678807 TMEM50B transmembrane protein 50B gene DOID:0060898 Parkinson's disease 20 ISO RGD:1316828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 11678807 TMEM50B transmembrane protein 50B gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1316828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11678807 TMEM50B transmembrane protein 50B gene DOID:0111995 immunodeficiency 28 ISO RGD:1316828 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 28 PMID:17576681|PMID:28492532|PMID:29106381|PMID:9536098 11678807 TMEM50B transmembrane protein 50B gene DOID:630 genetic disease ISO RGD:1316828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678807 TMEM50B transmembrane protein 50B gene DOID:9004697 Interferon Gamma, Receptor 1, Deficiency ISO RGD:1316828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interferon gamma receptor deficiency PMID:28492532 11678807 TMEM50B transmembrane protein 50B gene DOID:9005698 ZTTK Syndrome ISO RGD:1316828 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 11678829 PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:735560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11678829 PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:37 skin disease ISO RGD:735560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11678829 PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:3978 extrinsic cardiomyopathy ISO RGD:735561 D RGD:9068941 20220825 MouseDO 11678829 PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:5419 schizophrenia ISO RGD:735560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11678829 PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:630 genetic disease ISO RGD:735560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678829 PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:9004610 Acute Lung Injury ISO RGD:735561 D RGD:9068941 20210212 RGD associated with Endotoxemia;mRNA, protein:increased expression:lung (mouse) PMID:31167111|REF_RGD_ID:41410778 11678829 PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:735560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11678829 PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:9007964 Arsenic Poisoning ISO RGD:735560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11678829 PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:9970 obesity ISO RGD:735560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 11678884 ZNF502 zinc finger protein 502 gene DOID:630 genetic disease ISO RGD:1343425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678921 GPR34 G protein-coupled receptor 34 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11678921 GPR34 G protein-coupled receptor 34 gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1349710 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 11678921 GPR34 G protein-coupled receptor 34 gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1349710 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:19165920|PMID:20029458|PMID:21735175|PMID:21954287|PMID:22452838|PMID:22709267|PMID:23901204|PMID:28492532 11678921 GPR34 G protein-coupled receptor 34 gene DOID:12849 autistic disorder ISO RGD:1349710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11678921 GPR34 G protein-coupled receptor 34 gene DOID:5119 ovarian cyst ISO RGD:1349710 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 11678921 GPR34 G protein-coupled receptor 34 gene DOID:630 genetic disease ISO RGD:1349710 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678921 GPR34 G protein-coupled receptor 34 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11678941 MINAR1 membrane integral NOTCH2 associated receptor 1 gene DOID:2717 Bloom syndrome ISO RGD:1604043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11678941 MINAR1 membrane integral NOTCH2 associated receptor 1 gene DOID:630 genetic disease ISO RGD:1604043 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678941 MINAR1 membrane integral NOTCH2 associated receptor 1 gene DOID:9256 colorectal cancer ISO RGD:1604043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11678954 LTF lactotransferrin gene DOID:0050589 inflammatory bowel disease ISO RGD:1313477 D RGD:9068941 20200609 RGD PMID:9791051|REF_RGD_ID:7243943 11678954 LTF lactotransferrin gene DOID:10763 hypertension ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24587916 11678954 LTF lactotransferrin gene DOID:11476 osteoporosis ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16648989|PMID:16936800 11678954 LTF lactotransferrin gene DOID:13250 diarrhea ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16640825 11678954 LTF lactotransferrin gene DOID:13689 prostate calculus ISO RGD:1313477 D RGD:9068941 20200609 RGD PMID:19202053|REF_RGD_ID:7243107 11678954 LTF lactotransferrin gene DOID:14262 oral candidiasis ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16640825 11678954 LTF lactotransferrin gene DOID:14566 disease of cellular proliferation ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16640825 11678954 LTF lactotransferrin gene DOID:1508 candidiasis ISO RGD:1313477 D RGD:9068941 20200609 RGD PMID:17922408|REF_RGD_ID:7243948 11678954 LTF lactotransferrin gene DOID:2272 vulvovaginal candidiasis ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16640825 11678954 LTF lactotransferrin gene DOID:289 endometriosis ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 11678954 LTF lactotransferrin gene DOID:381 arthropathy ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16640825 11678954 LTF lactotransferrin gene DOID:3908 lung non-small cell carcinoma ISO RGD:1313477 D RGD:9068941 20200609 RGD PMID:21532506|REF_RGD_ID:7243860 11678954 LTF lactotransferrin gene DOID:4450 renal cell carcinoma ISO RGD:1313477 D RGD:9068941 20200609 RGD PMID:23201854|REF_RGD_ID:7243106 11678954 LTF lactotransferrin gene DOID:630 genetic disease ISO RGD:1313477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678954 LTF lactotransferrin gene DOID:65 connective tissue disease ISO RGD:1313477 D RGD:9068941 20200609 RGD PMID:8296641|REF_RGD_ID:7243945 11678954 LTF lactotransferrin gene DOID:8577 ulcerative colitis ISO RGD:1313477 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16640825|PMID:35999755 11678954 LTF lactotransferrin gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16640825 11678954 LTF lactotransferrin gene DOID:9000310 Lung Injury ISO RGD:1313477 D RGD:9068941 20200609 RGD PMID:16905637|REF_RGD_ID:7243109 11678954 LTF lactotransferrin gene DOID:9001600 Wounds and Injuries ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16640825 11678954 LTF lactotransferrin gene DOID:9001981 Weight Loss ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24587916 11678954 LTF lactotransferrin gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1313477 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11678954 LTF lactotransferrin gene DOID:9002928 Colonic Neoplasms ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12079509 11678954 LTF lactotransferrin gene DOID:9003507 Premature Birth ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16640825 11678954 LTF lactotransferrin gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis ISO RGD:1313477 D RGD:9068941 20200609 RGD PMID:23201854|REF_RGD_ID:7243106 11678954 LTF lactotransferrin gene DOID:9004484 Sepsis ISO RGD:1313477 D RGD:9068941 20200609 RGD PMID:23425819|REF_RGD_ID:7243861 11678954 LTF lactotransferrin gene DOID:9004786 Carbon Tetrachloride Poisoning ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16141546 11678954 LTF lactotransferrin gene DOID:9005372 Inflammation ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16141546 11678954 LTF lactotransferrin gene DOID:9006024 Hypotension ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563657 11678954 LTF lactotransferrin gene DOID:9007188 Liver Neoplasms ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12079509 11678954 LTF lactotransferrin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16141546 11678954 LTF lactotransferrin gene DOID:9008261 Chemically-Induced Disorders ISO RGD:1313477 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 11678954 LTF lactotransferrin gene DOID:9008821 Otitis Media with Effusion treatment ISO RGD:1313477 D RGD:9068941 20200609 RGD PMID:21079169|REF_RGD_ID:11554025 11678954 LTF lactotransferrin gene DOID:9008885 Staphylococcal Infections ISO RGD:1313477 D RGD:9068941 20200609 RGD PMID:10030017|REF_RGD_ID:7243953 11678954 LTF lactotransferrin gene DOID:9008975 Gastrointestinal Hemorrhage ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15651117 11678978 ERMN ermin gene DOID:0060041 autism spectrum disorder ISO RGD:1318095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11678978 ERMN ermin gene DOID:630 genetic disease ISO RGD:1318095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678985 RAB11FIP2 RAB11 family interacting protein 2 gene DOID:630 genetic disease ISO RGD:1344867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11678994 RWDD4 RWD domain containing 4 gene DOID:630 genetic disease ISO RGD:1605847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11679013 TLDC2 TBC/LysM-associated domain containing 2 gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1348581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome PMID:28492532 11679013 TLDC2 TBC/LysM-associated domain containing 2 gene DOID:2234 focal epilepsy ISO RGD:1348581 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11679013 TLDC2 TBC/LysM-associated domain containing 2 gene DOID:630 genetic disease ISO RGD:1348581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11679013 TLDC2 TBC/LysM-associated domain containing 2 gene DOID:9004067 Chilblain Lupus 2 ISO RGD:1348581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chilblain lupus 2 PMID:25741868 11679013 TLDC2 TBC/LysM-associated domain containing 2 gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1348581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:25741868|PMID:28492532 11679030 TPK1 thiamin pyrophosphokinase 1 gene DOID:0090130 cortical dysplasia-focal epilepsy syndrome ISO RGD:1348190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome PMID:27439707 11679030 TPK1 thiamin pyrophosphokinase 1 gene DOID:630 genetic disease ISO RGD:1348190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22152682|PMID:25741868|PMID:26975778|PMID:28431625|PMID:28492532|PMID:28747443|PMID:28856750|PMID:30483896 11679030 TPK1 thiamin pyrophosphokinase 1 gene DOID:9003549 Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) ISO RGD:1348190 D RGD:7240710 20180130 OMIM 11679030 TPK1 thiamin pyrophosphokinase 1 gene DOID:9003549 Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) ISO RGD:1348190 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ENCEPHALOPATHY, EPISODIC, DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY | ClinVar Annotator: match by term: Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) PMID:16199547|PMID:17576681|PMID:22152682|PMID:25458521|PMID:25640679|PMID:25741868|PMID:26975778|PMID:28431625|PMID:28492532|PMID:28747443|PMID:28856750|PMID:30483896|PMID:30789823|PMID:31288420|PMID:31404531|PMID:32679198|PMID:33086386|PMID:9536098 11679052 TBX20 T-box transcription factor 20 gene DOID:0070315 hypoplastic right heart syndrome ISO RGD:1319719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoplastic right heart syndrome 11679052 TBX20 T-box transcription factor 20 gene DOID:0080333 aortic valve disease 1 ISO RGD:1319719 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Aortic valve disease 1 PMID:19762328|PMID:25741868|PMID:27510170|PMID:27642787|PMID:28553164|PMID:30820038 11679052 TBX20 T-box transcription factor 20 gene DOID:0110109 atrial heart septal defect 4 ISO RGD:1319719 D RGD:7240710 20180130 OMIM 11679052 TBX20 T-box transcription factor 20 gene DOID:0110109 atrial heart septal defect 4 ISO RGD:1319719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial septal defect 4 PMID:17668378|PMID:18834961|PMID:19074289|PMID:19762328|PMID:25741868|PMID:27510170|PMID:27642787|PMID:28492532|PMID:28553164|PMID:29089047|PMID:29517769|PMID:30820038 11679052 TBX20 T-box transcription factor 20 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319719 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532|PMID:29089047|PMID:31333075|PMID:31568572 11679052 TBX20 T-box transcription factor 20 gene DOID:1657 ventricular septal defect ISO RGD:1319719 D RGD:9068941 20230202 RGD DNA:hypomethylation:promoter PMID:30084275|REF_RGD_ID:155882594 11679052 TBX20 T-box transcription factor 20 gene DOID:1682 congenital heart disease ISO RGD:1319719 D RGD:9068941 20230202 RGD mRNA,protein:decreased expression:heart (human) PMID:27572266|REF_RGD_ID:155882587 11679052 TBX20 T-box transcription factor 20 gene DOID:1682 congenital heart disease susceptibility ISO RGD:1319719 D RGD:9068941 20230202 RGD DNA:SNP,haplotype:promoter: PMID:27034249|REF_RGD_ID:155882589 11679052 TBX20 T-box transcription factor 20 gene DOID:1682 congenital heart disease susceptibility ISO RGD:1319719 D RGD:9068941 20230202 RGD DNA:SNPs:exon5: c.657A>C (rs3999941) PMID:25487630|REF_RGD_ID:155882596 11679052 TBX20 T-box transcription factor 20 gene DOID:1882 atrial heart septal defect susceptibility ISO RGD:1319719 D RGD:9068941 20230202 RGD DNA:SNPs, haplotype: (rs17675131, rs4720169) (human) PMID:26675025|REF_RGD_ID:155882600 11679052 TBX20 T-box transcription factor 20 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1319719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 11679052 TBX20 T-box transcription factor 20 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11679052 TBX20 T-box transcription factor 20 gene DOID:6000 congestive heart failure ISO RGD:1319719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11679052 TBX20 T-box transcription factor 20 gene DOID:630 genetic disease ISO RGD:1319719 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28049825|PMID:28492532|PMID:29089047|PMID:34426522 11679052 TBX20 T-box transcription factor 20 gene DOID:6419 tetralogy of Fallot ISO RGD:1319719 D RGD:9068941 20230202 RGD DNA:hypomethylation:promoter PMID:31138201|REF_RGD_ID:155882584 11679052 TBX20 T-box transcription factor 20 gene DOID:6419 tetralogy of Fallot ISO RGD:1319719 D RGD:9068941 20230202 RGD mRNA:increased expression:heart (human) PMID:18275040|REF_RGD_ID:155882585 11679052 TBX20 T-box transcription factor 20 gene DOID:9003936 Cardiomegaly ISO RGD:1319719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11679052 TBX20 T-box transcription factor 20 gene DOID:9006205 Animal Disease Models ISO RGD:1319719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11679052 TBX20 T-box transcription factor 20 gene DOID:9007174 Ventricular Remodeling ISO RGD:1319719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11679052 TBX20 T-box transcription factor 20 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1319719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome 11679069 KCNJ6 potassium inwardly rectifying channel subfamily J member 6 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1313992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11679069 KCNJ6 potassium inwardly rectifying channel subfamily J member 6 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1313992 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11679069 KCNJ6 potassium inwardly rectifying channel subfamily J member 6 gene DOID:14250 Down syndrome ISO RGD:731945 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:22178330|REF_RGD_ID:6483052 11679069 KCNJ6 potassium inwardly rectifying channel subfamily J member 6 gene DOID:1574 alcohol use disorder ISO RGD:1313992 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs2836016 (human) PMID:21307845|REF_RGD_ID:6483053 11679069 KCNJ6 potassium inwardly rectifying channel subfamily J member 6 gene DOID:1826 epilepsy ISO RGD:1313992 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11679069 KCNJ6 potassium inwardly rectifying channel subfamily J member 6 gene DOID:5419 schizophrenia ISO RGD:1313992 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11679069 KCNJ6 potassium inwardly rectifying channel subfamily J member 6 gene DOID:630 genetic disease ISO RGD:1313992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11679069 KCNJ6 potassium inwardly rectifying channel subfamily J member 6 gene DOID:9002955 Nerve Degeneration ISO RGD:1313992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15256069 11679069 KCNJ6 potassium inwardly rectifying channel subfamily J member 6 gene DOID:9007674 Keppen-Lubinsky Syndrome ISO RGD:1313992 D RGD:7240710 20180130 OMIM 11679069 KCNJ6 potassium inwardly rectifying channel subfamily J member 6 gene DOID:9007674 Keppen-Lubinsky Syndrome ISO RGD:1313992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keppen-Lubinsky syndrome PMID:19610118|PMID:25620207|PMID:25741868|PMID:28492532 11679069 KCNJ6 potassium inwardly rectifying channel subfamily J member 6 gene DOID:9976 heroin dependence ISO RGD:1313992 D RGD:9068941 20200609 RGD DNA:SNP: :rs2070995 (human) PMID:20220551|REF_RGD_ID:6483055 11679078 FITM1 fat storage inducing transmembrane protein 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1603355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11679078 FITM1 fat storage inducing transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:1603355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11679078 FITM1 fat storage inducing transmembrane protein 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1603355 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11679078 FITM1 fat storage inducing transmembrane protein 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1603355 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11679092 SLC52A1 solute carrier family 52 member 1 gene DOID:630 genetic disease ISO RGD:1346677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11679092 SLC52A1 solute carrier family 52 member 1 gene DOID:8454 riboflavin deficiency ISO RGD:1346677 D RGD:7240710 20180130 OMIM 11679092 SLC52A1 solute carrier family 52 member 1 gene DOID:8454 riboflavin deficiency ISO RGD:1346677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ariboflavinosis | ClinVar Annotator: match by term: Maternal riboflavin deficiency PMID:17689999|PMID:21089064|PMID:23506902|PMID:25741868|PMID:28492532|PMID:29122468 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:0001816 angiosarcoma ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:0050860 colorectal adenoma ISO RGD:734356 D RGD:9068941 20200609 RGD PMID:8264230|REF_RGD_ID:13210753 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:0050861 colorectal adenocarcinoma ISO RGD:734356 D RGD:9068941 20200609 RGD PMID:8264230|REF_RGD_ID:13210753 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:734356 D RGD:9068941 20220825 RGD mRNA,protein:increased expression:tongue (human) PMID:26581505|REF_RGD_ID:11535375 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:0050866 oral squamous cell carcinoma ISO RGD:734356 D RGD:9068941 20220826 RGD mRNA, protein:increased expression:mouth (human) PMID:34111459|REF_RGD_ID:153344573 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:0080600 COVID-19 ISO RGD:734356 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:10286 prostate carcinoma ISO RGD:734356 D RGD:9068941 20200609 RGD protein:increased activation:tumor:nuclear localization in 13/16 (81.25%) of BPH and 31/36 (86.1%) of adenocarcinomas (PCa) with significantly stronger staining in PCa (P=0.006) PMID:16413376|REF_RGD_ID:2290480 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:10325 silicosis ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27621875 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:10763 hypertension ISO RGD:2943 D RGD:9068941 20200609 RGD PMID:11358932|REF_RGD_ID:10047414 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:10763 hypertension ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039778 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:13533 osteopetrosis ISO RGD:10828 D RGD:9068941 20200609 RGD PMID:15314684|REF_RGD_ID:1549450 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:13619 extrahepatic cholestasis ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:1596 depressive disorder ISO RGD:2943 D RGD:9068941 20200609 RGD protein:increased expression:basolateral amygdala PMID:10719210|REF_RGD_ID:2290593 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:1612 breast cancer ISO RGD:734356 D RGD:9068941 20200609 RGD protein:increased activation:tumor: 50% of cases showed activated protein present in mitotic cells at the invasive front, associated with tumor cell proliferation and microvessel density PMID:16733206|REF_RGD_ID:2290479 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:1686 glaucoma ISO RGD:734356 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (human) PMID:28990066|REF_RGD_ID:155630605 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:1824 status epilepticus ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7984056 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:2316 brain ischemia ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17901229 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:734356 D RGD:9068941 20200609 RGD protein:increased expression, increased activation:significantly higher levels in invading vs organ-confined specimens (P<0.001) PMID:9748134|REF_RGD_ID:2290484 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:2870 endometrial adenocarcinoma no_association ISO RGD:734356 D RGD:9068941 20200609 RGD protein, mRNA::endometrial epithelium and stroma:no correlation between expression and type of tissue or cancer stage or grade PMID:10684716|REF_RGD_ID:2290482 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:734356 D RGD:9068941 20200609 RGD protein:increased expression:tumor:positive correlation between expression and tumor grade (P=0.027) PMID:15800680|REF_RGD_ID:2290481 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:2957 pulmonary tuberculosis ISO RGD:734356 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:macrophage, nucleus PMID:19737230|REF_RGD_ID:4889999 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:10828 D RGD:9068941 20221117 RGD mRNA, protein:increased expression:lung (mouse) PMID:34331613|REF_RGD_ID:155663371 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:3347 osteosarcoma ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18645001 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:4450 renal cell carcinoma ISO RGD:734356 D RGD:9068941 20200609 RGD protein:increased activation:tumor:associated with early carcinogenesis--10/18 (55.5%) of pT1a cases vs 11/44 (25%) of pT1b or greater cases PMID:16006965|REF_RGD_ID:1549443 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:4451 renal carcinoma ISO RGD:2943 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:9405228|REF_RGD_ID:2293758 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:574 peripheral nervous system disease ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17686523 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:630 genetic disease ISO RGD:734356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:676 juvenile rheumatoid arthritis ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:684 hepatocellular carcinoma ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20214788 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:8567 Hodgkin's lymphoma ISO RGD:734356 D RGD:9068941 20200609 RGD PMID:12145210|REF_RGD_ID:1549449 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9000039 Spinal Cord Injuries ISO RGD:2943 D RGD:9068941 20200609 RGD protein:increased phosphorylation:neuron PMID:21132399|REF_RGD_ID:4889994 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9000217 Stomach Neoplasms ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17355264 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9000998 Brain Injuries ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9001041 Asphyxia ISO RGD:10828 D RGD:9068941 20200609 RGD PMID:18620825|REF_RGD_ID:4890002 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9001472 Nasal Polyps ISO RGD:734356 D RGD:9068941 20200609 RGD mRNA:decreased expression:nasal cavity epithelium PMID:19158123|REF_RGD_ID:4890001 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9001642 Intestinal Polyps ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12584176 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9002304 Prostatic Neoplasms ISO RGD:734356 D RGD:9068941 20200609 RGD protein:increased expression:malignant tissues PMID:17634427|REF_RGD_ID:2290478 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:734356 D RGD:9068941 20200609 RGD Jun interacts with androgen receptor and ETV1 to mediate invasion PMID:17634427|REF_RGD_ID:2290478 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9002928 Colonic Neoplasms ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12628520|PMID:18283038 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9004009 Reperfusion Injury ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7922267 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9004649 Heat Stroke ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9004871 Mercury Poisoning, Nervous System ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15515958 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9005172 Lung Neoplasms ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20716630 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9007188 Liver Neoplasms ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12127263|PMID:24183702 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21726611|PMID:8777434 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9008091 Optic Nerve Injuries ISO RGD:2943 D RGD:9068941 20200609 RGD PMID:10366744|REF_RGD_ID:10047417 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9008939 Breast Neoplasms ISO RGD:734356 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast neoplasm 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9675 pulmonary emphysema ISO RGD:10828 D RGD:9068941 20220825 MouseDO OMIM:130700 11679118 MINDY2 MINDY lysine 48 deubiquitinase 2 gene DOID:2717 Bloom syndrome ISO RGD:1607025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11679118 MINDY2 MINDY lysine 48 deubiquitinase 2 gene DOID:630 genetic disease ISO RGD:1607025 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11679118 MINDY2 MINDY lysine 48 deubiquitinase 2 gene DOID:9256 colorectal cancer ISO RGD:1607025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11679137 ALDH4A1 aldehyde dehydrogenase 4 family member A1 gene DOID:0060041 autism spectrum disorder ISO RGD:1346272 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11679137 ALDH4A1 aldehyde dehydrogenase 4 family member A1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1346272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11679137 ALDH4A1 aldehyde dehydrogenase 4 family member A1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1346272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11679137 ALDH4A1 aldehyde dehydrogenase 4 family member A1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1346272 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11679137 ALDH4A1 aldehyde dehydrogenase 4 family member A1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1346272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29718361 11679137 ALDH4A1 aldehyde dehydrogenase 4 family member A1 gene DOID:0080541 hyperprolinemia ISO RGD:1346272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperprolinemia 11679137 ALDH4A1 aldehyde dehydrogenase 4 family member A1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1346272 D RGD:7240710 20180130 OMIM 11679137 ALDH4A1 aldehyde dehydrogenase 4 family member A1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1346272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:17576681|PMID:25741868|PMID:2624476|PMID:26822237|PMID:28492532|PMID:9536098|PMID:9700195 11679137 ALDH4A1 aldehyde dehydrogenase 4 family member A1 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1346272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11679137 ALDH4A1 aldehyde dehydrogenase 4 family member A1 gene DOID:0080600 COVID-19 ISO RGD:1346272 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11679137 ALDH4A1 aldehyde dehydrogenase 4 family member A1 gene DOID:1059 intellectual disability ISO RGD:1346272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11679137 ALDH4A1 aldehyde dehydrogenase 4 family member A1 gene DOID:630 genetic disease ISO RGD:1346272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11679137 ALDH4A1 aldehyde dehydrogenase 4 family member A1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1346272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11679156 POLE2 DNA polymerase epsilon 2, accessory subunit gene DOID:630 genetic disease ISO RGD:1323687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11679156 POLE2 DNA polymerase epsilon 2, accessory subunit gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1323687 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11679156 POLE2 DNA polymerase epsilon 2, accessory subunit gene DOID:9562 primary ciliary dyskinesia ISO RGD:1323687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606587 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:0080011 bone resorption disease ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11985600 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:0090122 aromatase excess syndrome ISO RGD:1606587 D RGD:7240710 20180130 OMIM 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:0090122 aromatase excess syndrome ISO RGD:1606587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aromatase deficiency | ClinVar Annotator: match by term: Aromatase excess syndrome PMID:10566648|PMID:12466340|PMID:14602738|PMID:14715828|PMID:1496995|PMID:16199547|PMID:16882736|PMID:17164303|PMID:17576681|PMID:1825497|PMID:20048079|PMID:20186154|PMID:23329769|PMID:25088806|PMID:25301327|PMID:25415177|PMID:25741868|PMID:26822949|PMID:27086564|PMID:27256151|PMID:27693882|PMID:28492532|PMID:2973313|PMID:30968679|PMID:8265607|PMID:8530621|PMID:9177373|PMID:9211678|PMID:9536098|PMID:9718379 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:10652 Alzheimer's disease ISO RGD:1606587 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:16882736|REF_RGD_ID:1600861 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:10652 Alzheimer's disease ISO RGD:1606587 D RGD:9068941 20200609 RGD mRNA:altered expression:cerebellum, hippocampus (human) PMID:18180323|REF_RGD_ID:4889108 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:10763 hypertension ISO RGD:2457 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary (rat) PMID:19228890|REF_RGD_ID:4761326 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:1100 ovarian disease ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11985600 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:11054 urinary bladder cancer ISO RGD:737520 D RGD:9068941 20200609 RGD PMID:17406000|REF_RGD_ID:7257712 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:11476 osteoporosis ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20723554 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:11476 osteoporosis ISO RGD:1606587 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:17002564|REF_RGD_ID:1625350 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21262361|PMID:22381227|PMID:8265607|PMID:9177373 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:2457 D RGD:9068941 20200609 RGD PMID:23183180|REF_RGD_ID:7257726 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:2457 D RGD:9068941 20200609 RGD mRNA, protein:decreased expresssion:ovary PMID:23598873|REF_RGD_ID:7257717 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:11612 polycystic ovary syndrome susceptibility ISO RGD:1606587 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.A264C (rs700519) (human) PMID:21282199|REF_RGD_ID:7257710 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:11714 gestational diabetes ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20421132 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:11801 protein-energy malnutrition ISO RGD:2457 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary (rat) PMID:20018485|REF_RGD_ID:4890381 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:12577 urethral obstruction ISO RGD:1606587 D RGD:9068941 20200609 RGD PMID:12050560|REF_RGD_ID:7257713 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:12849 autistic disorder ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21359227 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:12894 Sjogren's syndrome ISO RGD:737520 D RGD:9068941 20220825 MouseDO OMIM:270150 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:1380 endometrial cancer ISO RGD:1606587 D RGD:9068941 20200609 RGD DNA:SNP::increase in frequency of mutant heterozygote C/T (p=0.0004) PMID:18497059|REF_RGD_ID:2301045 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:13938 amenorrhea ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8265607 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:13948 bladder neck obstruction ISO RGD:1606587 D RGD:9068941 20200609 RGD PMID:21356374|REF_RGD_ID:7257709 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:1459 hypothyroidism ISO RGD:2457 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary (rat) PMID:20149258|REF_RGD_ID:4890368 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:14654 prostatitis ISO RGD:1606587 D RGD:9068941 20200609 RGD PMID:19700748|REF_RGD_ID:7257711 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:1612 breast cancer ISO RGD:1606587 D RGD:9068941 20200609 RGD DNA:repeat::(TTTA)10 (human) PMID:16875543|REF_RGD_ID:2301046 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:1612 breast cancer treatment ISO RGD:1606587 D RGD:9068941 20200609 RGD PMID:7053713|REF_RGD_ID:7257716 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:1612 breast cancer treatment ISO RGD:1606587 D RGD:9068941 20200609 RGD DNA:SNP:cds:rs700518 (human) PMID:23643682|REF_RGD_ID:7257707 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:1924 hypogonadism ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9177373 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:2394 ovarian cancer ISO RGD:1606587 D RGD:9068941 20200609 RGD DNA:SNP::increase in frequency of mutant heterozygote C/T (p=0.001) PMID:18497059|REF_RGD_ID:2301045 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:2717 Bloom syndrome ISO RGD:1606587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:289 endometriosis ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18815356|PMID:21958689 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:289 endometriosis ISO RGD:1606587 D RGD:9068941 20200609 RGD PMID:8550748|REF_RGD_ID:7257715 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:289 endometriosis ISO RGD:2457 D RGD:9068941 20200609 RGD PMID:23406865|REF_RGD_ID:7257718 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:299 adenocarcinoma ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1606587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:3891 placental insufficiency ISO RGD:2457 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:hippocampus (rat) PMID:20662593|REF_RGD_ID:4890445 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:1606587 D RGD:9068941 20210521 RGD DNA:SNP:5'utr: (rs2445762) (human) PMID:21472143|REF_RGD_ID:126925218 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1606587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:20048079|PMID:25741868 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:607 paraplegia ISO RGD:1606587 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1606587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:1606587 D RGD:9068941 20200609 RGD PMID:19700748|REF_RGD_ID:7257711 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1606587 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:34426286 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9000784 Fibrosis ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22028442 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28112739 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9001604 Sexual Infantilism ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8265607 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9001827 Critical Illness ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16670151 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2457 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22301628|REF_RGD_ID:7257708 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16424004|PMID:17704407 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1606587 D RGD:9068941 20200609 RGD DNA:SNP:intron, 5' utr: (rs1062033) (human) PMID:20417295|REF_RGD_ID:10045662 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9002801 Recurrence ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28112739 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency ISO RGD:1606587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency PMID:25741868 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2457 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:21114983|REF_RGD_ID:4890041 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:1606587 D RGD:9068941 20200609 RGD DNA:snps:exon:multiple (human) PMID:17118999|REF_RGD_ID:1600860 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2457 D RGD:9068941 20200609 RGD protein:decreased expression:ovary, testis (rat) PMID:20428845|REF_RGD_ID:4890359 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2457 D RGD:9068941 20200609 RGD PMID:23552495|REF_RGD_ID:7244372 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9007456 Female Infertility ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14684609 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9008113 Tissue Adhesions treatment ISO RGD:2457 D RGD:9068941 20200609 RGD PMID:23395555|REF_RGD_ID:7257719 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1606587 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:11850205|PMID:19639193|PMID:23342035|PMID:28112739|PMID:29701941|PMID:34426286 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9256 colorectal cancer ISO RGD:1606587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9406 hypopituitarism ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12970278 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9452 fatty liver disease ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11929713 11679204 KIDINS220 kinase D interacting substrate 220 gene DOID:1059 intellectual disability ISO RGD:732181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11679204 KIDINS220 kinase D interacting substrate 220 gene DOID:1969 cerebral palsy ISO RGD:732181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 11679204 KIDINS220 kinase D interacting substrate 220 gene DOID:630 genetic disease ISO RGD:732181 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11679204 KIDINS220 kinase D interacting substrate 220 gene DOID:9006183 Ventriculomegaly and Arthrogryposis ISO RGD:732181 D RGD:7240710 20210908 OMIM 11679204 KIDINS220 kinase D interacting substrate 220 gene DOID:9006183 Ventriculomegaly and Arthrogryposis ISO RGD:732181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: VENTRICULOMEGALY AND ARTHROGRYPOSIS PMID:25741868|PMID:28492532|PMID:28934391|PMID:32909676|PMID:33205811 11679204 KIDINS220 kinase D interacting substrate 220 gene DOID:9008346 SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY ISO RGD:732181 D RGD:7240710 20190315 OMIM 11679204 KIDINS220 kinase D interacting substrate 220 gene DOID:9008346 SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY ISO RGD:732181 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, intellectual disability, nystagmus, and obesity PMID:17576681|PMID:25741868|PMID:27005418|PMID:28492532|PMID:28934391|PMID:29667355|PMID:9536098 11679237 PODN podocan gene DOID:10283 prostate cancer ISO RGD:1320634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11679237 PODN podocan gene DOID:630 genetic disease ISO RGD:1320634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11679255 CCDC88A coiled-coil domain containing 88A gene DOID:0080539 PEHO syndrome ISO RGD:1347801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PEHO syndrome | ClinVar Annotator: match by term: PEHO-like syndrome PMID:25741868|PMID:26917597|PMID:28492532 11679255 CCDC88A coiled-coil domain containing 88A gene DOID:10907 microcephaly ISO RGD:1347801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11679255 CCDC88A coiled-coil domain containing 88A gene DOID:630 genetic disease ISO RGD:1347801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11679292 LOC100987123 zinc finger protein 595 gene DOID:630 genetic disease ISO RGD:1352410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11679292 LOC100987123 zinc finger protein 595 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1352410 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:29054765 11679292 LOC100987123 zinc finger protein 595 gene DOID:9005172 Lung Neoplasms ISO RGD:1352410 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:29054765 11679300 JMY junction mediating and regulatory protein, p53 cofactor gene DOID:630 genetic disease ISO RGD:1603907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11679300 JMY junction mediating and regulatory protein, p53 cofactor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11679309 NASP nuclear autoantigenic sperm protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11679309 NASP nuclear autoantigenic sperm protein gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11679309 NASP nuclear autoantigenic sperm protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11679309 NASP nuclear autoantigenic sperm protein gene DOID:2394 ovarian cancer ISO RGD:1605124 D RGD:9068941 20200609 RGD protein:increased expression:ovary (human) PMID:20164540|REF_RGD_ID:9590111 11679309 NASP nuclear autoantigenic sperm protein gene DOID:630 genetic disease ISO RGD:1605124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11679309 NASP nuclear autoantigenic sperm protein gene DOID:9007456 Female Infertility ISO RGD:1552828 D RGD:9068941 20200609 RGD PMID:19219058|REF_RGD_ID:9590110 11679332 LOC100988774 protocadherin beta-7 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1314071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11679332 LOC100988774 protocadherin beta-7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314071 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11679332 LOC100988774 protocadherin beta-7 gene DOID:630 genetic disease ISO RGD:1314071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11679332 LOC100988774 protocadherin beta-7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11679332 LOC100988774 protocadherin beta-7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314071 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11679337 POLK DNA polymerase kappa gene DOID:0070064 autosomal dominant intellectual developmental disorder 34 ISO RGD:1343998 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 34 PMID:25741868 11679337 POLK DNA polymerase kappa gene DOID:10283 prostate cancer ISO RGD:1343998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:25741868|PMID:26046662 11679337 POLK DNA polymerase kappa gene DOID:1059 intellectual disability ISO RGD:1343998 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11679337 POLK DNA polymerase kappa gene DOID:10907 microcephaly ISO RGD:1343998 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11679337 POLK DNA polymerase kappa gene DOID:1826 epilepsy ISO RGD:1343998 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26046662 11679337 POLK DNA polymerase kappa gene DOID:3068 glioblastoma ISO RGD:1343998 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26651356 11679337 POLK DNA polymerase kappa gene DOID:3323 Sandhoff disease ISO RGD:1343998 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 11679337 POLK DNA polymerase kappa gene DOID:630 genetic disease ISO RGD:1343998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11679337 POLK DNA polymerase kappa gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343998 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26046662 11679337 POLK DNA polymerase kappa gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11679337 POLK DNA polymerase kappa gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1343998 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26651356 11679365 FEZ2 fasciculation and elongation protein zeta 2 gene DOID:630 genetic disease ISO RGD:735511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11679365 FEZ2 fasciculation and elongation protein zeta 2 gene DOID:9004657 Weight Gain ISO RGD:735511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11679365 FEZ2 fasciculation and elongation protein zeta 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:735511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11679377 SERPINA11 serpin family A member 11 gene DOID:0081063 DICER1 syndrome ISO RGD:1345910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 11679377 SERPINA11 serpin family A member 11 gene DOID:118 pericardial effusion ISO RGD:1345910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pericardial effusion PMID:25741868 11679377 SERPINA11 serpin family A member 11 gene DOID:630 genetic disease ISO RGD:1345910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11679377 SERPINA11 serpin family A member 11 gene DOID:9008386 Hydrops Fetalis ISO RGD:1345910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 11679387 F8 coagulation factor VIII gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1343567 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11679387 F8 coagulation factor VIII gene DOID:0050476 Barth syndrome ISO RGD:1343567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11679387 F8 coagulation factor VIII gene DOID:0050800 creatine transporter deficiency ISO RGD:1343567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11679387 F8 coagulation factor VIII gene DOID:0060574 von Willebrand's disease 2 ISO RGD:1343567 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16409463|REF_RGD_ID:10766469 11679387 F8 coagulation factor VIII gene DOID:0080600 COVID-19 ISO RGD:1343567 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 11679387 F8 coagulation factor VIII gene DOID:0111823 autosomal hemophilia A ISO RGD:1343567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mild hemophilia A PMID:29357978 11679387 F8 coagulation factor VIII gene DOID:0112003 immunodeficiency 33 ISO RGD:1343567 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11679387 F8 coagulation factor VIII gene DOID:10588 adrenoleukodystrophy ISO RGD:1343567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11679387 F8 coagulation factor VIII gene DOID:10907 microcephaly ISO RGD:1343567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11679387 F8 coagulation factor VIII gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11679387 F8 coagulation factor VIII gene DOID:12134 factor VIII deficiency ISO RGD:1343567 D RGD:7240710 20180130 OMIM 11679387 F8 coagulation factor VIII gene DOID:12134 factor VIII deficiency ISO RGD:1343567 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar Annotator: match by term: Hemophilia A | ClinVar Annotator: match by term: Hemophilia A, congenital PMID:10215414|PMID:10338101|PMID:10404764|PMID:10519986|PMID:10609755|PMID:10896236|PMID:10910910|PMID:10910913|PMID:11102988|PMID:11110718|PMID:11189482|PMID:11251334|PMID:11298607|PMID:11341489|PMID:11410838|PMID:11442643|PMID:11554935|PMID:11713379|PMID:11748850|PMID:11843836|PMID:11857744|PMID:11858487|PMID:12139751|PMID:12204009|PMID:12325022|PMID:12351418|PMID:12406074|PMID:12871415|PMID:12884004|PMID:1301194|PMID:1301932|PMID:1301960|PMID:1349567|PMID:1357455|PMID:1412186|PMID:1523102|PMID:15471879|PMID:15569173|PMID:1559571|PMID:15625837|PMID:15670040|PMID:1569180|PMID:1569181|PMID:15710596|PMID:15735794|PMID:15741993|PMID:15810915|PMID:15921397|PMID:15996930|PMID:16128892|PMID:16173970|PMID:1639429|PMID:1643024|PMID:16601827|PMID:1671991|PMID:16769589|PMID:16786531|PMID:16834740|PMID:16972227|PMID:17209060|PMID:17222201|PMID:17445092|PMID:17498081|PMID:17550859|PMID:17610549|PMID:17610560|PMID:18034822|PMID:18184865|PMID:18217193|PMID:18371163|PMID:18387975|PMID:18403393|PMID:1840568|PMID:18479430|PMID:1851341|PMID:18565236|PMID:18600086|PMID:18691168|PMID:1908096|PMID:1908817|PMID:1923751|PMID:1924291|PMID:19369668|PMID:19377476|PMID:19448530|PMID:19456877|PMID:19473408|PMID:19473423|PMID:19548904|PMID:1969840|PMID:19719548|PMID:19719828|PMID:1973901|PMID:19740093|PMID:1979502|PMID:20028422|PMID:20102490|PMID:20108389|PMID:20193250|PMID:20300295|PMID:20301578|PMID:20331753|PMID:20331761|PMID:20431853|PMID:20533009|PMID:20536985|PMID:20800587|PMID:2104741|PMID:2104766|PMID:2105106|PMID:2105906|PMID:2106480|PMID:21070499|PMID:2107542|PMID:2109644|PMID:2110545|PMID:2121026|PMID:2121641|PMID:21217077|PMID:2125022|PMID:21371196|PMID:21462120|PMID:2159433|PMID:21645180|PMID:21645224|PMID:21645226|PMID:21689372|PMID:21751985|PMID:21838755|PMID:21883705|PMID:21910785|PMID:22103590|PMID:22958177|PMID:23534532|PMID:23625609|PMID:23711237|PMID:23711294|PMID:23809411|PMID:23812942|PMID:23913812|PMID:23926300|PMID:23961341|PMID:23963097|PMID:24033266|PMID:24086941|PMID:24108539|PMID:24118398|PMID:24134483|PMID:2473810|PMID:2493803|PMID:2495245|PMID:24953131|PMID:2498882|PMID:2506948|PMID:2510835|PMID:25326637|PMID:25628142|PMID:2563431|PMID:2567219|PMID:25708597|PMID:25741868|PMID:25741908|PMID:25824987|PMID:25854144|PMID:25948085|PMID:26308136|PMID:26383047|PMID:26879396|PMID:26897466|PMID:27292088|PMID:27868395|PMID:27943580|PMID:28252515|PMID:2831458|PMID:2833855|PMID:2835307|PMID:28492532|PMID:2861360|PMID:2887317|PMID:2901224|PMID:2907841|PMID:29296726|PMID:2986011|PMID:2987704|PMID:2993888|PMID:3035554|PMID:30534853|PMID:30913330|PMID:3097553|PMID:31064749|PMID:3122181|PMID:3131627|PMID:3137981|PMID:32166871|PMID:32581362|PMID:34355501|PMID:6253938|PMID:6438527|PMID:7579394|PMID:7662970|PMID:7728145|PMID:7794769|PMID:7959679|PMID:7984443|PMID:8011517|PMID:8052958|PMID:8054459|PMID:8069313|PMID:8281136|PMID:8307558|PMID:8322269|PMID:8449505|PMID:8485051|PMID:8490618|PMID:8497853|PMID:8547094|PMID:8576960|PMID:8584995|PMID:8639447|PMID:8644728|PMID:9184393|PMID:9326186|PMID:9452104|PMID:9569189|PMID:9594277|PMID:9792405|PMID:9829908|PMID:9886318 11679387 F8 coagulation factor VIII gene DOID:12134 factor VIII deficiency treatment ISO RGD:1343567 D RGD:9068941 20200609 RGD PMID:10468616|REF_RGD_ID:10450757 11679387 F8 coagulation factor VIII gene DOID:12134 factor VIII deficiency treatment ISO RGD:727845 D RGD:9068941 20211029 RGD PMID:31899798|REF_RGD_ID:150520060 11679387 F8 coagulation factor VIII gene DOID:12259 hemophilia B ISO RGD:1343567 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Factor IX deficiency | ClinVar Annotator: match by term: Hereditary factor IX deficiency disease PMID:10338101|PMID:10404764|PMID:10519986|PMID:10896236|PMID:10910910|PMID:10910913|PMID:11102988|PMID:11298607|PMID:11341489|PMID:11410838|PMID:11442643|PMID:11843836|PMID:11857744|PMID:12139751|PMID:12204009|PMID:12871415|PMID:1301932|PMID:1301960|PMID:1349567|PMID:1357455|PMID:15569173|PMID:15625837|PMID:15810915|PMID:15921397|PMID:15996930|PMID:16128892|PMID:16173970|PMID:16601827|PMID:1671991|PMID:16769589|PMID:16786531|PMID:16834740|PMID:16972227|PMID:17222201|PMID:17445092|PMID:17610549|PMID:18034822|PMID:18387975|PMID:18403393|PMID:18565236|PMID:18600086|PMID:18691168|PMID:1908096|PMID:1924291|PMID:19456877|PMID:19473408|PMID:19473423|PMID:19548904|PMID:19719828|PMID:1979502|PMID:20102490|PMID:20193250|PMID:20300295|PMID:20331753|PMID:20533009|PMID:20800587|PMID:2104741|PMID:2106480|PMID:21070499|PMID:21371196|PMID:21751985|PMID:21838755|PMID:21883705|PMID:23625609|PMID:23812942|PMID:23926300|PMID:2493803|PMID:2498882|PMID:2506948|PMID:25741868|PMID:25824987|PMID:25854144|PMID:27943580|PMID:2833855|PMID:29296726|PMID:2987704|PMID:31064749|PMID:32166871|PMID:34355501|PMID:6438527|PMID:7728145|PMID:7794769|PMID:8281136|PMID:8307558|PMID:8449505|PMID:8490618|PMID:8547094|PMID:8584995|PMID:8639447|PMID:8644728|PMID:9326186|PMID:9452104|PMID:9569189|PMID:9829908|PMID:9886318 11679387 F8 coagulation factor VIII gene DOID:1247 blood coagulation disease ISO RGD:1343567 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormality of coagulation PMID:1301932|PMID:25741868|PMID:31064749|PMID:8485051 11679387 F8 coagulation factor VIII gene DOID:12849 autistic disorder ISO RGD:1343567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11679387 F8 coagulation factor VIII gene DOID:13628 favism ISO RGD:1343567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11679387 F8 coagulation factor VIII gene DOID:1969 cerebral palsy ISO RGD:1343567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 11679387 F8 coagulation factor VIII gene DOID:2213 hemorrhagic disease ISO RGD:1343567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 11679387 F8 coagulation factor VIII gene DOID:2452 thrombophilia ISO RGD:1343567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16628723 11679387 F8 coagulation factor VIII gene DOID:2729 dyskeratosis congenita ISO RGD:1343567 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11679387 F8 coagulation factor VIII gene DOID:417 autoimmune disease ISO RGD:1343567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11886462 11679387 F8 coagulation factor VIII gene DOID:607 paraplegia ISO RGD:1343567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11679387 F8 coagulation factor VIII gene DOID:630 genetic disease ISO RGD:1343567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18691168|PMID:19473423|PMID:21371196|PMID:25741868|PMID:25824987|PMID:28492532|PMID:29296726|PMID:31064749|PMID:32166871|PMID:9886318 11679387 F8 coagulation factor VIII gene DOID:801 hemarthrosis treatment ISO RGD:727845 D RGD:9068941 20211029 RGD PMID:31899798|REF_RGD_ID:150520060 11679387 F8 coagulation factor VIII gene DOID:9001708 Hemorrhagic Shock ISO RGD:727845 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:15748447|REF_RGD_ID:10450768 11679387 F8 coagulation factor VIII gene DOID:9002720 Splenomegaly ISO RGD:1343567 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11679387 F8 coagulation factor VIII gene DOID:9003121 Thromboembolism ISO RGD:1343567 D RGD:9068941 20200609 RGD PMID:15634269|REF_RGD_ID:1582359 11679387 F8 coagulation factor VIII gene DOID:9003305 X-Linked Thrombophilia due to Factor VIII Defect ISO RGD:1343567 D RGD:7240710 20220316 OMIM 11679387 F8 coagulation factor VIII gene DOID:9003305 X-Linked Thrombophilia due to Factor VIII Defect ISO RGD:1343567 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT PMID:11442643|PMID:1301932|PMID:1412186|PMID:17498081|PMID:18479430|PMID:18691168|PMID:1908096|PMID:1924291|PMID:19369668|PMID:19473423|PMID:19548904|PMID:19719548|PMID:20028422|PMID:20102490|PMID:20301578|PMID:2121641|PMID:21645226|PMID:22958177|PMID:23625609|PMID:23711237|PMID:23913812|PMID:23961341|PMID:24033266|PMID:24108539|PMID:24134483|PMID:25326637|PMID:25628142|PMID:25708597|PMID:25741868|PMID:25824987|PMID:25854144|PMID:27292088|PMID:27868395|PMID:27943580|PMID:28252515|PMID:28492532|PMID:29296726|PMID:29357978|PMID:30913330|PMID:31064749|PMID:32166871|PMID:6438527|PMID:7579394|PMID:7728145|PMID:8281136|PMID:8307558|PMID:8449505|PMID:8639447|PMID:9829908|PMID:9886318 11679387 F8 coagulation factor VIII gene DOID:9003871 Venous Thrombosis ISO RGD:1343567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16875063 11679387 F8 coagulation factor VIII gene DOID:9003871 Venous Thrombosis ISO RGD:1343567 D RGD:9068941 20200609 RGD PMID:15634269|REF_RGD_ID:1582359 11679387 F8 coagulation factor VIII gene DOID:9004755 Hemophilic Arthropathy treatment ISO RGD:727845 D RGD:9068941 20211029 RGD PMID:27060449|REF_RGD_ID:150520059 11679387 F8 coagulation factor VIII gene DOID:9005930 Endotoxemia ISO RGD:727845 D RGD:9068941 20200609 RGD PMID:11092686|REF_RGD_ID:7394782 11679387 F8 coagulation factor VIII gene DOID:9006035 Factor VIII Deficiency, Acquired ISO RGD:1343567 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11886462 11679387 F8 coagulation factor VIII gene DOID:9007096 Stroke ISO RGD:1343567 D RGD:9068941 20200609 RGD PMID:15202164|REF_RGD_ID:1582360 11679387 F8 coagulation factor VIII gene DOID:9008217 Hemorrhage ISO RGD:1343567 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hemorrhage PMID:25741868|PMID:6438527|PMID:7728145 11679387 F8 coagulation factor VIII gene DOID:9008217 Hemorrhage treatment ISO RGD:1343567 D RGD:9068941 20200609 RGD PMID:24931420|REF_RGD_ID:11530071 11679387 F8 coagulation factor VIII gene DOID:9279 hyperhomocysteinemia ISO RGD:727845 D RGD:9068941 20200609 RGD PMID:16046705|REF_RGD_ID:1601105 11679387 F8 coagulation factor VIII gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343567 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:7974333|REF_RGD_ID:2312416 11679423 KIF20A kinesin family member 20A gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1317032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11679423 KIF20A kinesin family member 20A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1317032 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11679423 KIF20A kinesin family member 20A gene DOID:0080600 COVID-19 ISO RGD:1317032 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11679423 KIF20A kinesin family member 20A gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1317032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 11679423 KIF20A kinesin family member 20A gene DOID:630 genetic disease ISO RGD:1317032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11679423 KIF20A kinesin family member 20A gene DOID:684 hepatocellular carcinoma ISO RGD:1317032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11679423 KIF20A kinesin family member 20A gene DOID:9000303 Familial Restrictive Cardiomyopathy 6 ISO RGD:1317032 D RGD:7240710 20210728 OMIM 11679423 KIF20A kinesin family member 20A gene DOID:9000303 Familial Restrictive Cardiomyopathy 6 ISO RGD:1317032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 6 PMID:29357359 11679423 KIF20A kinesin family member 20A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11679423 KIF20A kinesin family member 20A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317032 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11679446 MSH5 mutS homolog 5 gene DOID:0050553 JMP syndrome ISO RGD:1343663 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11679446 MSH5 mutS homolog 5 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1343663 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:34755185 11679446 MSH5 mutS homolog 5 gene DOID:0080870 primary ovarian insufficiency 13 ISO RGD:1343663 D RGD:7240710 20190315 OMIM 11679446 MSH5 mutS homolog 5 gene DOID:0080870 primary ovarian insufficiency 13 ISO RGD:1343663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 13 PMID:28175301 11679446 MSH5 mutS homolog 5 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1343663 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 11679446 MSH5 mutS homolog 5 gene DOID:14227 azoospermia ISO RGD:1343663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 11679446 MSH5 mutS homolog 5 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1343663 D RGD:9068941 20210430 RGD DNA:SNPs: :rs805304, rs707939 (human) PMID:28093084|REF_RGD_ID:126848786 11679446 MSH5 mutS homolog 5 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1343663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome 11679446 MSH5 mutS homolog 5 gene DOID:630 genetic disease ISO RGD:1343663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11679446 MSH5 mutS homolog 5 gene DOID:684 hepatocellular carcinoma ISO RGD:1343663 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11679446 MSH5 mutS homolog 5 gene DOID:9002151 Spermatogenic Failure 74 ISO RGD:1343663 D RGD:7240710 20220720 OMIM 11679446 MSH5 mutS homolog 5 gene DOID:9002151 Spermatogenic Failure 74 ISO RGD:1343663 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 74 PMID:25741868|PMID:34755185 11679492 ARHGEF28 Rho guanine nucleotide exchange factor 28 gene DOID:630 genetic disease ISO RGD:6892765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11679492 ARHGEF28 Rho guanine nucleotide exchange factor 28 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:6892765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11679536 RNF39 ring finger protein 39 gene DOID:11372 megacolon ISO RGD:1604283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11679536 RNF39 ring finger protein 39 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1604283 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 11679536 RNF39 ring finger protein 39 gene DOID:630 genetic disease ISO RGD:1604283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11679536 RNF39 ring finger protein 39 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11679582 UBR2 ubiquitin protein ligase E3 component n-recognin 2 gene DOID:0050444 infantile Refsum disease ISO RGD:1313853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11679582 UBR2 ubiquitin protein ligase E3 component n-recognin 2 gene DOID:630 genetic disease ISO RGD:1313853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11679582 UBR2 ubiquitin protein ligase E3 component n-recognin 2 gene DOID:905 Zellweger syndrome ISO RGD:1313853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11679644 CDC42BPB CDC42 binding protein kinase beta gene DOID:0060041 autism spectrum disorder ISO RGD:1351337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:32031333 11679644 CDC42BPB CDC42 binding protein kinase beta gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1351337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11679644 CDC42BPB CDC42 binding protein kinase beta gene DOID:630 genetic disease ISO RGD:1351337 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11679644 CDC42BPB CDC42 binding protein kinase beta gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1351337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 11679644 CDC42BPB CDC42 binding protein kinase beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDC42BPB-related neurodevelopmental syndrome | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32031333 11679644 CDC42BPB CDC42 binding protein kinase beta gene DOID:9007606 CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME ISO RGD:1351337 D RGD:7240710 20220615 OMIM 11679644 CDC42BPB CDC42 binding protein kinase beta gene DOID:9007606 CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME ISO RGD:1351337 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Chilton-Okur-Chung neurodevelopmental syndrome PMID:25741868|PMID:32031333 11679684 ERG ETS transcription factor ERG gene DOID:1240 leukemia ISO RGD:1348469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19108891 11679684 ERG ETS transcription factor ERG gene DOID:1826 epilepsy ISO RGD:1348469 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11679684 ERG ETS transcription factor ERG gene DOID:5453 pulmonary venoocclusive disease ISO RGD:1348469 D RGD:9068941 20200903 RGD protein:decreased expression:lung PMID:32209028|REF_RGD_ID:38549370 11679684 ERG ETS transcription factor ERG gene DOID:5453 pulmonary venoocclusive disease ISO RGD:621108 D RGD:9068941 20200903 RGD protein:decreased expression:lung PMID:32209028|REF_RGD_ID:38549370 11679684 ERG ETS transcription factor ERG gene DOID:630 genetic disease ISO RGD:1348469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11679684 ERG ETS transcription factor ERG gene DOID:8398 osteoarthritis ISO RGD:1550130 D RGD:9068941 20220825 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 11679684 ERG ETS transcription factor ERG gene DOID:8692 myeloid leukemia ISO RGD:1348469 D RGD:9068941 20200609 RGD PMID:23719302|REF_RGD_ID:10450751 11679684 ERG ETS transcription factor ERG gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17173048|PMID:18798265|PMID:19396168|PMID:25735316|PMID:27223260|PMID:27783944|PMID:28783165 11679684 ERG ETS transcription factor ERG gene DOID:9008192 Neoplastic Processes ISO RGD:1348469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27783944 11679684 ERG ETS transcription factor ERG gene DOID:9119 acute myeloid leukemia ISO RGD:1348469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19822134 11679684 ERG ETS transcription factor ERG gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1348469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27776115 11679704 PCED1A PC-esterase domain containing 1A gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1318837 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11679704 PCED1A PC-esterase domain containing 1A gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1318837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11679704 PCED1A PC-esterase domain containing 1A gene DOID:630 genetic disease ISO RGD:1318837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11679718 MMP17 matrix metallopeptidase 17 gene DOID:630 genetic disease ISO RGD:1323053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11679731 UNC5A unc-5 netrin receptor A gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1344019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11679731 UNC5A unc-5 netrin receptor A gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1344019 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11679731 UNC5A unc-5 netrin receptor A gene DOID:0112103 Sotos syndrome 1 ISO RGD:1344019 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 11679731 UNC5A unc-5 netrin receptor A gene DOID:630 genetic disease ISO RGD:1344019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11679731 UNC5A unc-5 netrin receptor A gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1344019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11679731 UNC5A unc-5 netrin receptor A gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1344019 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 11679753 PTGR2 prostaglandin reductase 2 gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1321465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 11679753 PTGR2 prostaglandin reductase 2 gene DOID:1059 intellectual disability ISO RGD:1321465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11679753 PTGR2 prostaglandin reductase 2 gene DOID:630 genetic disease ISO RGD:1321465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11679778 C19H19orf12 chromosome 19 C19orf12 homolog gene DOID:0050952 spastic ataxia ISO RGD:1319491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 11679778 C19H19orf12 chromosome 19 C19orf12 homolog gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1319491 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:21981780|PMID:22584950|PMID:23269600|PMID:23436634|PMID:23857908|PMID:25741868|PMID:28492532|PMID:28641177|PMID:30392167|PMID:31087512|PMID:31518459|PMID:31804703|PMID:33607528|PMID:34284285 11679778 C19H19orf12 chromosome 19 C19orf12 homolog gene DOID:0110738 neurodegeneration with brain iron accumulation 4 ISO RGD:1319491 D RGD:7240710 20180130 OMIM 11679778 C19H19orf12 chromosome 19 C19orf12 homolog gene DOID:0110738 neurodegeneration with brain iron accumulation 4 ISO RGD:1319491 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 4 PMID:17576681|PMID:18414213|PMID:20039086|PMID:21981780|PMID:22508347|PMID:22584950|PMID:23166001|PMID:23269600|PMID:23278385|PMID:23436634|PMID:23494994|PMID:23857908|PMID:24033266|PMID:24209434|PMID:25592411|PMID:25741868|PMID:26187298|PMID:26539891|PMID:27112773|PMID:28347615|PMID:28492532|PMID:28641177|PMID:29295770|PMID:29389947|PMID:29915382|PMID:30088953|PMID:30369941|PMID:30392167|PMID:31087512|PMID:31518459|PMID:31804703|PMID:32581362|PMID:33607528|PMID:34284285|PMID:9536098 11679778 C19H19orf12 chromosome 19 C19orf12 homolog gene DOID:0110795 hereditary spastic paraplegia 43 ISO RGD:1319491 D RGD:7240710 20180130 OMIM 11679778 C19H19orf12 chromosome 19 C19orf12 homolog gene DOID:0110795 hereditary spastic paraplegia 43 ISO RGD:1319491 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 43 | ClinVar Annotator: match by term: Spastic paraplegia 43, autosomal recessive PMID:17576681|PMID:18414213|PMID:20039086|PMID:21981780|PMID:22584950|PMID:23166001|PMID:23269600|PMID:23436634|PMID:23494994|PMID:23857908|PMID:24033266|PMID:24361204|PMID:25558065|PMID:25592411|PMID:25741868|PMID:26187298|PMID:27112773|PMID:28492532|PMID:28641177|PMID:28832565|PMID:29915382|PMID:30088953|PMID:30369941|PMID:30392167|PMID:31087512|PMID:31105013|PMID:31804703|PMID:33607528|PMID:34284285|PMID:9536098 11679778 C19H19orf12 chromosome 19 C19orf12 homolog gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:1319491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A PMID:21981780|PMID:25741868|PMID:28492532 11679778 C19H19orf12 chromosome 19 C19orf12 homolog gene DOID:1289 neurodegenerative disease ISO RGD:1319491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder PMID:21981780|PMID:24361204|PMID:25558065|PMID:28492532|PMID:28832565|PMID:31087512 11679778 C19H19orf12 chromosome 19 C19orf12 homolog gene DOID:2476 hereditary spastic paraplegia ISO RGD:1319491 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:21981780|PMID:23269600|PMID:24361204|PMID:25558065|PMID:25741868|PMID:27112773|PMID:28492532|PMID:28832565|PMID:31087512|PMID:31105013 11679778 C19H19orf12 chromosome 19 C19orf12 homolog gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1319491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:21981780|PMID:23269600|PMID:23494994|PMID:23857908|PMID:24033266|PMID:25592411|PMID:25741868|PMID:28492532|PMID:30088953 11679778 C19H19orf12 chromosome 19 C19orf12 homolog gene DOID:543 dystonia ISO RGD:1319491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:21981780|PMID:23269600|PMID:23494994|PMID:23857908|PMID:24033266|PMID:25592411|PMID:25741868|PMID:28492532|PMID:30088953 11679778 C19H19orf12 chromosome 19 C19orf12 homolog gene DOID:630 genetic disease ISO RGD:1319491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11679778 C19H19orf12 chromosome 19 C19orf12 homolog gene DOID:9002762 Ovarian Neoplasms ISO RGD:1319491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21397856 11679778 C19H19orf12 chromosome 19 C19orf12 homolog gene DOID:9008086 Developmental Disabilities ISO RGD:1319491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:26539891 11679805 NFKBIA NFKB inhibitor alpha gene DOID:0050745 diffuse large B-cell lymphoma no_association ISO RGD:735440 D RGD:9068941 20200609 RGD SNA:polymorphism(s) PMID:15198731|REF_RGD_ID:2298905 11679805 NFKBIA NFKB inhibitor alpha gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:3171 D RGD:9068941 20200609 RGD associated with Liver Neoplasms PMID:20045035|REF_RGD_ID:10413878 11679805 NFKBIA NFKB inhibitor alpha gene DOID:0080600 COVID-19 ISO RGD:735440 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 11679805 NFKBIA NFKB inhibitor alpha gene DOID:0080815 childhood-onset asthma exacerbates ISO RGD:735440 D RGD:9068941 20210625 RGD associated with respiratory syncytial virus infectious disease;DNA:SNPs:protomer: (rs2233409) (human) PMID:23487427|REF_RGD_ID:40902982 11679805 NFKBIA NFKB inhibitor alpha gene DOID:0080998 acute necrotizing pancreatitis treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:19174608|REF_RGD_ID:10414072 11679805 NFKBIA NFKB inhibitor alpha gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:735440 D RGD:7240710 20180130 OMIM 11679805 NFKBIA NFKB inhibitor alpha gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:735440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 PMID:14523047|PMID:15337789|PMID:17576681|PMID:17931563|PMID:18412279|PMID:23708964|PMID:23864385|PMID:23870671|PMID:24033266|PMID:25601653|PMID:25741868|PMID:26888281|PMID:28417298|PMID:28492532|PMID:28629746|PMID:29948576|PMID:32581362|PMID:9536098 11679805 NFKBIA NFKB inhibitor alpha gene DOID:10283 prostate cancer ISO RGD:735440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11679805 NFKBIA NFKB inhibitor alpha gene DOID:10283 prostate cancer disease_progression ISO RGD:735440 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation PMID:23093296|REF_RGD_ID:13506767 11679805 NFKBIA NFKB inhibitor alpha gene DOID:10283 prostate cancer no_association ISO RGD:735440 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2233406, rs3138053 (human) PMID:26834482|REF_RGD_ID:13506766 11679805 NFKBIA NFKB inhibitor alpha gene DOID:10283 prostate cancer no_association ISO RGD:735440 D RGD:9068941 20200609 RGD DNA:polymorphism:3' UTR PMID:26068031|REF_RGD_ID:11054182 11679805 NFKBIA NFKB inhibitor alpha gene DOID:10283 prostate cancer susceptibility ISO RGD:735440 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-826C>T, -881A>G (human) PMID:26068031|REF_RGD_ID:11054182 11679805 NFKBIA NFKB inhibitor alpha gene DOID:10763 hypertension treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:19246475|REF_RGD_ID:7495780 11679805 NFKBIA NFKB inhibitor alpha gene DOID:11383 cryptorchidism ISO RGD:10975 D RGD:9068941 20200609 RGD protein:decreased expression:testis PMID:22777528|REF_RGD_ID:11567213 11679805 NFKBIA NFKB inhibitor alpha gene DOID:11446 sciatic neuropathy treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:18938092|REF_RGD_ID:10413869 11679805 NFKBIA NFKB inhibitor alpha gene DOID:11650 bronchopulmonary dysplasia exacerbates ISO RGD:735440 D RGD:9068941 20210625 RGD DNA:SNPs:promoter: (rs2233406, rs2233409) (human) PMID:23487427|REF_RGD_ID:40902982 11679805 NFKBIA NFKB inhibitor alpha gene DOID:1184 nephrotic syndrome exacerbates ISO RGD:735440 D RGD:9068941 20210625 RGD protein:decreased expression:peripheral blood mononuclear cell (human) PMID:17441336|REF_RGD_ID:127285019 11679805 NFKBIA NFKB inhibitor alpha gene DOID:12351 alcoholic hepatitis treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 11679805 NFKBIA NFKB inhibitor alpha gene DOID:12894 Sjogren's syndrome ISO RGD:10975 D RGD:9068941 20210514 RGD PMID:20696914|REF_RGD_ID:126908016 11679805 NFKBIA NFKB inhibitor alpha gene DOID:12894 Sjogren's syndrome ISO RGD:10975 D RGD:9068941 20220825 MouseDO OMIM:270150 11679805 NFKBIA NFKB inhibitor alpha gene DOID:1324 lung cancer susceptibility ISO RGD:735440 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:-826C>T,-881A>G (human) PMID:26870106|REF_RGD_ID:13793394 11679805 NFKBIA NFKB inhibitor alpha gene DOID:13250 diarrhea ameliorates ISO RGD:735440 D RGD:9068941 20210521 RGD human gene in a mouse model PMID:20008138|REF_RGD_ID:126925947 11679805 NFKBIA NFKB inhibitor alpha gene DOID:14115 toxic shock syndrome treatment ISO RGD:3171 D RGD:9068941 20210604 RGD PMID:11961112|REF_RGD_ID:126928137 11679805 NFKBIA NFKB inhibitor alpha gene DOID:1793 pancreatic cancer ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15861417 11679805 NFKBIA NFKB inhibitor alpha gene DOID:1883 hepatitis C susceptibility ISO RGD:735440 D RGD:9068941 20201218 RGD DNA:deletion:promoter: (rs28362491) (human) PMID:30056167|REF_RGD_ID:40902826 11679805 NFKBIA NFKB inhibitor alpha gene DOID:1909 melanoma ISO RGD:735440 D RGD:9068941 20200609 RGD DNA:insertion(s) PMID:17492467|REF_RGD_ID:2298900 11679805 NFKBIA NFKB inhibitor alpha gene DOID:2043 hepatitis B susceptibility ISO RGD:735440 D RGD:9068941 20210604 RGD DNA:SNPs:promoter:-826C>T, -881A>G (rs2233406, rs3138053) (human) PMID:25223483|REF_RGD_ID:40902986 11679805 NFKBIA NFKB inhibitor alpha gene DOID:2316 brain ischemia ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18628779 11679805 NFKBIA NFKB inhibitor alpha gene DOID:2349 arteriosclerosis ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 11679805 NFKBIA NFKB inhibitor alpha gene DOID:2526 prostate adenocarcinoma ISO RGD:10975 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation PMID:15712212|REF_RGD_ID:2298768 11679805 NFKBIA NFKB inhibitor alpha gene DOID:2526 prostate adenocarcinoma severity ISO RGD:735440 D RGD:9068941 20200609 RGD PMID:15073126|REF_RGD_ID:13506768 11679805 NFKBIA NFKB inhibitor alpha gene DOID:289 endometriosis ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:23954358|REF_RGD_ID:10413877 11679805 NFKBIA NFKB inhibitor alpha gene DOID:2957 pulmonary tuberculosis ISO RGD:735440 D RGD:9068941 20210514 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:9379002|REF_RGD_ID:126908014 11679805 NFKBIA NFKB inhibitor alpha gene DOID:3068 glioblastoma treatment ISO RGD:735440 D RGD:9068941 20210618 RGD human cell line in a mouse model PMID:15692608|REF_RGD_ID:127285387 11679805 NFKBIA NFKB inhibitor alpha gene DOID:3310 atopic dermatitis ISO RGD:10975 D RGD:9068941 20220825 MouseDO OMIM:603165 11679805 NFKBIA NFKB inhibitor alpha gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:21122797|REF_RGD_ID:10413868 11679805 NFKBIA NFKB inhibitor alpha gene DOID:4029 gastritis treatment ISO RGD:3171 D RGD:9068941 20200609 RGD associated with Helicobacter Infections PMID:25335260|REF_RGD_ID:10413874 11679805 NFKBIA NFKB inhibitor alpha gene DOID:552 pneumonia susceptibility ISO RGD:735440 D RGD:9068941 20210528 RGD associated with combined immunodeficiency;DNA:missense mutation:CDS:c.106T>G (p.S36A) (human) PMID:31683054|REF_RGD_ID:126925985 11679805 NFKBIA NFKB inhibitor alpha gene DOID:5844 myocardial infarction treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:19616538|REF_RGD_ID:10413879 11679805 NFKBIA NFKB inhibitor alpha gene DOID:612 primary immunodeficiency disease ISO RGD:735440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:17931563|PMID:25741868|PMID:28492532|PMID:28629746|PMID:32581362 11679805 NFKBIA NFKB inhibitor alpha gene DOID:630 genetic disease ISO RGD:735440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11679805 NFKBIA NFKB inhibitor alpha gene DOID:684 hepatocellular carcinoma ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22022477 11679805 NFKBIA NFKB inhibitor alpha gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735440 D RGD:9068941 20201211 RGD associated with Chronic Hepatitis B;DNA:SNPs,haplotype:3'utr,promoter: 826C>T,881A>G (rs2233406,rs3138053) (human) PMID:19797428|REF_RGD_ID:40400751 11679805 NFKBIA NFKB inhibitor alpha gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:735440 D RGD:9068941 20210604 RGD associated with hepatitis B;DNA:SNP:promoter:-826C>T (rs2233406) (human) PMID:25223483|REF_RGD_ID:40902986 11679805 NFKBIA NFKB inhibitor alpha gene DOID:8567 Hodgkin's lymphoma ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19223558 11679805 NFKBIA NFKB inhibitor alpha gene DOID:8567 Hodgkin's lymphoma ISO RGD:735440 D RGD:9068941 20200609 RGD PMID:10340377|REF_RGD_ID:2298893 11679805 NFKBIA NFKB inhibitor alpha gene DOID:8567 Hodgkin's lymphoma ISO RGD:735440 D RGD:9068941 20200609 RGD DNA:deletion:C-terminally truncated protein PMID:10556199|REF_RGD_ID:2298894 11679805 NFKBIA NFKB inhibitor alpha gene DOID:865 vasculitis ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 11679805 NFKBIA NFKB inhibitor alpha gene DOID:8893 psoriasis ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953190 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:21134362|REF_RGD_ID:10413867 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9000099 Experimental Colitis treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:21642017|REF_RGD_ID:10413866 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9000310 Lung Injury ISO RGD:3171 D RGD:9068941 20200609 RGD associated with Reperfusion Injury PMID:19321049|REF_RGD_ID:10413876 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9000873 Adenoviridae Infections ameliorates ISO RGD:735440 D RGD:9068941 20210521 RGD human gene in a mouse model, associated with Animal Viral Hepatitis PMID:10692445|REF_RGD_ID:126925948 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:20199666|REF_RGD_ID:10413863 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9000965 Neoplasm Metastasis ISO RGD:735440 D RGD:9068941 20200609 RGD associated with prostate cancer;protein:increased serine phosphorylation PMID:23093296|REF_RGD_ID:13506767 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9000989 Pneumococcal Infections susceptibility ISO RGD:735440 D RGD:9068941 20210625 RGD DNA:SNP: :(rs1050851) (human) PMID:29407193|REF_RGD_ID:127285391 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9000989 Pneumococcal Infections susceptibility ISO RGD:735440 D RGD:9068941 20210625 RGD DNA:SNPs:enhancers: (rs3138053, rs2233406) (human) PMID:17463416|REF_RGD_ID:127285388 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26806094 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:3171 D RGD:9068941 20210625 RGD PMID:11557243|REF_RGD_ID:127285020 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9002676 Cerebral Hemorrhage ISO RGD:3171 D RGD:9068941 20200609 RGD protein:increased phosphorylation:brain PMID:20150961|REF_RGD_ID:10413872 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:3171 D RGD:9068941 20200609 RGD associated with Hypertension PMID:20231522|REF_RGD_ID:10413875 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9004283 Transplant Rejection treatment ISO RGD:10975 D RGD:9068941 20200609 RGD PMID:19399405|REF_RGD_ID:10413870 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9004283 Transplant Rejection treatment ISO RGD:3171 D RGD:9068941 20200709 RGD PMID:31828147|REF_RGD_ID:35316072 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9004484 Sepsis treatment ISO RGD:3171 D RGD:9068941 20210604 RGD PMID:14662889|REF_RGD_ID:126928138 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9004702 Pregnancy Complications susceptibility ISO RGD:735440 D RGD:9068941 20201218 RGD associated with Cytomegalovirus Infections;DNA:SNP:promoter: -94ins/delATTG (human) PMID:25792174|REF_RGD_ID:11342310 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:735440 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3171 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:22483164|REF_RGD_ID:10413864 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:20188823|REF_RGD_ID:10413873 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9005930 Endotoxemia exacerbates ISO RGD:10975 D RGD:9068941 20210514 RGD PMID:19098124|REF_RGD_ID:126908017 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9005930 Endotoxemia treatment ISO RGD:10975 D RGD:9068941 20210604 RGD PMID:10229101|REF_RGD_ID:126928139 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9006262 Cytomegalovirus Infections susceptibility ISO RGD:735440 D RGD:9068941 20201211 RGD associated with end stage renal disease;DNA:SNP:promoter: -94ins/delATTG (human) PMID:30431214|REF_RGD_ID:40902821 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9006623 Murine Acquired Immunodeficiency Syndrome ISO RGD:10975 D RGD:9068941 20210625 RGD protein:decreased expression:lymph node (mouse) PMID:10429205|REF_RGD_ID:127285021 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:735440 D RGD:9068941 20210625 RGD associated with respiratory syncytial virus infectious disease;DNA:SNP:promoter: (rs2233406) (human) PMID:23487427|REF_RGD_ID:40902982 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9007102 Myocardial Ischemia ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9007151 Deficiency of Interleukin-1 Receptor Antagonist ISO RGD:735440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:19304943|REF_RGD_ID:10413871 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:735440 D RGD:9068941 20210625 RGD DNA:enhancers: :(rs2233406, rs2233409) (human) PMID:29093318|REF_RGD_ID:127285389 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9008824 Sarcopenia ISO RGD:3171 D RGD:9068941 20200609 RGD protein:increased expression:soleus PMID:15665035|REF_RGD_ID:10413861 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9008939 Breast Neoplasms ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9538 multiple myeloma ISO RGD:735440 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:12377412|PMID:16540234|REF_RGD_ID:2298895|REF_RGD_ID:2298898 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9588 encephalitis ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:16006567|REF_RGD_ID:5147676 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9675 pulmonary emphysema treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:20472710|REF_RGD_ID:4891488 11679805 NFKBIA NFKB inhibitor alpha gene DOID:9965 toxoplasmosis exacerbates ISO RGD:735440 D RGD:9068941 20210528 RGD human gene in a mouse model PMID:12626571|REF_RGD_ID:126925984 11679818 TSPAN11 tetraspanin 11 gene DOID:630 genetic disease ISO RGD:1604416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11679831 LIG4 DNA ligase 4 gene DOID:0060021 DNA ligase IV deficiency ISO RGD:1312194 D RGD:7240710 20180130 OMIM 11679831 LIG4 DNA ligase 4 gene DOID:0060021 DNA ligase IV deficiency ISO RGD:1312194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DNA ligase IV deficiency | ClinVar Annotator: match by term: LIG4-Related Disorders PMID:10395545|PMID:11349135|PMID:11779494|PMID:12471202|PMID:15333585|PMID:16088910|PMID:16358361|PMID:16358631|PMID:16585603|PMID:18845326|PMID:21664875|PMID:23337116|PMID:23372718|PMID:24027040|PMID:24033266|PMID:24123394|PMID:24759409|PMID:24892279|PMID:2523926|PMID:25239263|PMID:25741868|PMID:26151233|PMID:26608917|PMID:26762768|PMID:27063650|PMID:27612988|PMID:27855655|PMID:27893162|PMID:28039949|PMID:28492532|PMID:28866308|PMID:29146883|PMID:30617623|PMID:30719430|PMID:31589614|PMID:31604460|PMID:32534991|PMID:34630384|PMID:35592332|PMID:7063650 11679831 LIG4 DNA ligase 4 gene DOID:0060173 Timothy syndrome ISO RGD:1312194 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:25741868 11679831 LIG4 DNA ligase 4 gene DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation ISO RGD:1312194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency PMID:12471202|PMID:24033266|PMID:25741868|PMID:28492532 11679831 LIG4 DNA ligase 4 gene DOID:10283 prostate cancer treatment ISO RGD:1312194 D RGD:9068941 20200609 RGD PMID:16638864|REF_RGD_ID:13204720 11679831 LIG4 DNA ligase 4 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1312194 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;DNA:polymorphism: :54C>T (human) PMID:19147782|REF_RGD_ID:2317363 11679831 LIG4 DNA ligase 4 gene DOID:3070 high grade glioma ISO RGD:1312194 D RGD:9068941 20200609 RGD DNA:SNP: :rs1805388 (human) PMID:23663450|REF_RGD_ID:13204718 11679831 LIG4 DNA ligase 4 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1312194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary thyroid carcinoma PMID:25741868 11679831 LIG4 DNA ligase 4 gene DOID:627 severe combined immunodeficiency ISO RGD:1312194 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:16585603|PMID:18845326|PMID:26151233|PMID:28492532|PMID:31604460 11679831 LIG4 DNA ligase 4 gene DOID:630 genetic disease ISO RGD:1312194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11779494|PMID:15333585|PMID:16088910|PMID:23372718|PMID:24027040|PMID:24123394|PMID:24759409|PMID:24892279|PMID:2523926|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|PMID:28866308|PMID:29146883|PMID:31589614|PMID:31604460|PMID:35592332 11679831 LIG4 DNA ligase 4 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1312194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11679831 LIG4 DNA ligase 4 gene DOID:9256 colorectal cancer ISO RGD:1312194 D RGD:9068941 20200609 RGD DNA, mRNA:hypermethylation, decreased expression PMID:24282031|REF_RGD_ID:8694072 11679831 LIG4 DNA ligase 4 gene DOID:9538 multiple myeloma ISO RGD:1312194 D RGD:7240710 20180130 OMIM 11679831 LIG4 DNA ligase 4 gene DOID:9538 multiple myeloma ISO RGD:1312194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Multiple myeloma, resistance to PMID:12471202|PMID:24033266|PMID:25741868|PMID:28492532 11679855 MAST2 microtubule associated serine/threonine kinase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11679855 MAST2 microtubule associated serine/threonine kinase 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11679855 MAST2 microtubule associated serine/threonine kinase 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11679855 MAST2 microtubule associated serine/threonine kinase 2 gene DOID:13938 amenorrhea ISO RGD:1312089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11679855 MAST2 microtubule associated serine/threonine kinase 2 gene DOID:630 genetic disease ISO RGD:1312089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11679901 CPXCR1 CPX chromosome region candidate 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11679901 CPXCR1 CPX chromosome region candidate 1 gene DOID:12849 autistic disorder ISO RGD:1345373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11679901 CPXCR1 CPX chromosome region candidate 1 gene DOID:630 genetic disease ISO RGD:1345373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:0060058 lymphoma ISO RGD:736498 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19075289 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:0060180 colitis ISO RGD:732089 D RGD:9068941 20200609 RGD PMID:20833794|REF_RGD_ID:6483551 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:10652 Alzheimer's disease ISO RGD:732089 D RGD:9068941 20200609 RGD PMID:22044482|REF_RGD_ID:6483525 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:11476 osteoporosis treatment ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:16442794|REF_RGD_ID:10043381 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:12387 nephrogenic diabetes insipidus treatment ISO RGD:732089 D RGD:9068941 20200609 RGD PMID:19729836|REF_RGD_ID:10003043 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:12510 retinal ischemia ISO RGD:628641 D RGD:9068941 20200609 RGD protein:decreased expression:retina (rat) PMID:12821538|REF_RGD_ID:9850261 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:732089 D RGD:9068941 20220825 MouseDO 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:13832 patent ductus arteriosus ISO RGD:732089 D RGD:9068941 20200609 RGD PMID:9600059|REF_RGD_ID:10003086 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:1679 cystitis ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:20860016|REF_RGD_ID:5147913 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:1876 sexual dysfunction ISO RGD:736498 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18726914 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:224 transient cerebral ischemia ISO RGD:628641 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:16437207|REF_RGD_ID:10043375 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:2349 arteriosclerosis ISO RGD:736498 D RGD:9068941 20200609 RGD PMID:16020747|REF_RGD_ID:1581284 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:289 endometriosis ISO RGD:736498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19407222 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:3021 acute kidney failure treatment ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:16871242|REF_RGD_ID:10003092 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:3627 aortic aneurysm ISO RGD:732089 D RGD:9068941 20200609 RGD PMID:22570740|REF_RGD_ID:6483518 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:3627 aortic aneurysm ISO RGD:736498 D RGD:9068941 20200609 RGD PMID:22570740|REF_RGD_ID:6483518 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:5119 ovarian cyst ISO RGD:736498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:630 genetic disease ISO RGD:736498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:7147 ankylosing spondylitis ISO RGD:736498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743469 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:7147 ankylosing spondylitis ISO RGD:736498 D RGD:9068941 20200609 RGD PMID:21743469|REF_RGD_ID:6483530 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:783 end stage renal disease treatment ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:16871242|REF_RGD_ID:10003092 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:820 myocarditis resistance ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:21383594|REF_RGD_ID:6483535 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:8577 ulcerative colitis ISO RGD:736498 D RGD:9068941 20200609 RGD PMID:21818367|REF_RGD_ID:6483532 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:9000099 Experimental Colitis treatment ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:12100473|REF_RGD_ID:727388 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:9001048 Nociceptive Pain ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:21371033|REF_RGD_ID:6483537 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:9001341 Chloracne ISO RGD:736498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:9002211 Hyperalgesia treatment ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:20423341|REF_RGD_ID:10003041 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:9002457 Experimental Arthritis ISO RGD:736498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18287210 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:9002457 Experimental Arthritis disease_progression ISO RGD:628641 D RGD:9068941 20200609 RGD mRNA:increased expression:tarsal joint, synovium (rat) PMID:11207665|REF_RGD_ID:10043377 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:18287210|REF_RGD_ID:10003052 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:732089 D RGD:9068941 20200609 RGD PMID:20423341|REF_RGD_ID:10003041 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:9002910 Hearing Loss, Noise-Induced resistance ISO RGD:732089 D RGD:9068941 20200609 RGD PMID:22198478|REF_RGD_ID:6483524 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:9004914 Postmenopausal Osteoporosis treatment ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:11917107|REF_RGD_ID:10003045 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:9005372 Inflammation ISO RGD:736498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18287210 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:9005372 Inflammation treatment ISO RGD:628641 D RGD:9068941 20200609 RGD associated with Arthritis, Experimental PMID:18498708|REF_RGD_ID:10043613 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:9005930 Endotoxemia ISO RGD:628641 D RGD:9068941 20200609 RGD protein:increased expression:paraventricular hypothalamic nucleus parvicellular division (rat) PMID:11058222|REF_RGD_ID:10043329 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:9006024 Hypotension ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:15201706|REF_RGD_ID:1581283 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:9006937 NSAID-Enteropathy treatment ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:11991626|REF_RGD_ID:10003093 11679912 PTGER4 prostaglandin E receptor 4 gene DOID:9007096 Stroke ISO RGD:732089 D RGD:9068941 20200609 RGD PMID:21965326|REF_RGD_ID:6483526 11679919 MBNL1 muscleblind like splicing regulator 1 gene DOID:450 myotonic disease ISO RGD:1552938 D RGD:9068941 20220825 MouseDO 11679919 MBNL1 muscleblind like splicing regulator 1 gene DOID:5419 schizophrenia ISO RGD:1606580 D RGD:9068941 20200609 RGD mRNA:increased expression:Brodmann (1909) area 46 PMID:17464717|REF_RGD_ID:10041058 11679919 MBNL1 muscleblind like splicing regulator 1 gene DOID:630 genetic disease ISO RGD:1606580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11679919 MBNL1 muscleblind like splicing regulator 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1606580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11679919 MBNL1 muscleblind like splicing regulator 1 gene DOID:9008993 Myotonia ISO RGD:1606580 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24039817 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:0002116 pterygium ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:conjunctiva (human) PMID:21892527|REF_RGD_ID:6771360 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:0050852 limb ischemia ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:21940947|PMID:22369073|REF_RGD_ID:6767285|REF_RGD_ID:6906905 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:0050853 chronic venous insufficiency ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:saphenous vein, venous endothelial cell (human) PMID:22737245|REF_RGD_ID:6484725 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1349615 D RGD:9068941 20220811 RGD protein:decreased expression:oral mucosa (human) PMID:26044849|REF_RGD_ID:153323290 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:0081267 graft-versus-host disease ISO RGD:1349615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM PMID:8532023 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:10923 sickle cell anemia severity ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:20306667|REF_RGD_ID:11541101 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:1115 sarcoma ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:21760628|REF_RGD_ID:6771216 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:11382 corneal neovascularization ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:21719569|PMID:22553751|REF_RGD_ID:6771213|REF_RGD_ID:6771229 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:22456311|REF_RGD_ID:6767304 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:11713 diabetic angiopathy ISO RGD:62220 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased tyrosine phosphorylation:conceptus PMID:10329590|REF_RGD_ID:2311657 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:decreased expression:T cell (human) PMID:22697005|REF_RGD_ID:6771226 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:12377 spinal muscular atrophy ISO RGD:62220 D RGD:9068941 20200609 RGD protein:decreased expression:levator auris longus, transversus abdominis (mouse) PMID:22153987|REF_RGD_ID:6767297 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:12849 autistic disorder ISO RGD:1349615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17509538 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:12849 autistic disorder ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:22717029|REF_RGD_ID:6484728 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:13922 eosinophilic esophagitis ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:esophagus (human) PMID:22331014|REF_RGD_ID:6771318 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1349615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:1588 thrombocytopenia ISO RGD:1349615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10848805 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:1936 atherosclerosis ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:22053073|REF_RGD_ID:6771176 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:1936 atherosclerosis resistance ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:17659202|REF_RGD_ID:6771223 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:1936 atherosclerosis severity ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery (human) PMID:21960570|REF_RGD_ID:6771359 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:224 transient cerebral ischemia ISO RGD:62220 D RGD:9068941 20200609 RGD protein:increased expression:brain (mouse) PMID:22382321|REF_RGD_ID:6766379 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:2394 ovarian cancer severity ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:female gonad (human) PMID:25502723|REF_RGD_ID:11541094 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:2518 orchitis ISO RGD:61927 D RGD:9068941 20200609 RGD protein:increased expression:testes, endothelial cells (rat) PMID:22351899|REF_RGD_ID:6767571 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1349615 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:3068 glioblastoma ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:21858729|REF_RGD_ID:6771207 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:3192 neurilemmoma severity ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:tumor (human) PMID:22555941|REF_RGD_ID:6771228 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:3393 coronary artery disease ISO RGD:1349615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28530674 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:3393 coronary artery disease ISO RGD:1349615 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.N536S, p.G670R (human) PMID:11795274|REF_RGD_ID:2311656 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:3393 coronary artery disease ISO RGD:1349615 D RGD:9068941 20200609 RGD DNA:polymorphism:5' utr:g.53G>A (human) PMID:12732396|REF_RGD_ID:1581010 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:3393 coronary artery disease no_association ISO RGD:1349615 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L125V (human) PMID:10780329|REF_RGD_ID:6771225 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1349615 D RGD:9068941 20210903 RGD human cells in mouse model PMID:23632475|REF_RGD_ID:150404268 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:417 autoimmune disease ISO RGD:1349615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10848805 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:418 systemic scleroderma ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:decreased expression:superficial vasculature (human) PMID:20228226|REF_RGD_ID:11541095 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:418 systemic scleroderma ISO RGD:62220 D RGD:9068941 20200609 RGD protein:decreased expression:superficial vasculature (human) PMID:20228226|REF_RGD_ID:11541095 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:4248 coronary stenosis ISO RGD:1349615 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L125V, p.S563N (human) PMID:10571959|REF_RGD_ID:1598382 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:5082 liver cirrhosis ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:blood microparticle (human) PMID:22465620|REF_RGD_ID:6771231 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:5844 myocardial infarction ISO RGD:1349615 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R643G (human) PMID:15488875|REF_RGD_ID:6771224 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:5844 myocardial infarction no_association ISO RGD:1349615 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L125V, p.S563N (human) PMID:15265022|REF_RGD_ID:1581009 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:5844 myocardial infarction onset ISO RGD:1349615 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.N563S, p.G670R (human) PMID:11795274|REF_RGD_ID:2311656 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:6432 pulmonary hypertension treatment ISO RGD:61927 D RGD:9068941 20200609 RGD PMID:22559233|REF_RGD_ID:10400914 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:680 tauopathy ISO RGD:62220 D RGD:9068941 20200609 RGD protein:increased expression:brain, blood vessel (mouse) PMID:21839061|REF_RGD_ID:6771210 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:769 neuroblastoma ISO RGD:1349615 D RGD:9068941 20200609 RGD human tumor in mouse model PMID:22174364|REF_RGD_ID:6767296 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:799 varicose veins ISO RGD:1349615 D RGD:9068941 20221110 RGD mRNA,protein:decreased expression:endothelium: PMID:26808710|REF_RGD_ID:11529441 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:824 periodontitis ISO RGD:62220 D RGD:9068941 20200609 RGD protein:increased expression:gingiva, blood vessels (mouse) PMID:21979132|REF_RGD_ID:6771178 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:8283 peritonitis treatment ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:8113674|REF_RGD_ID:11541096 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:8398 osteoarthritis ISO RGD:61927 D RGD:9068941 20200609 RGD mRNA:increased expression:tibia (rat) PMID:21864409|REF_RGD_ID:6771362 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:853 polymyalgia rheumatica ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:plasma, endothelial microparticle (human) PMID:22211720|REF_RGD_ID:6771319 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:16521495|REF_RGD_ID:11552593 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:8692 myeloid leukemia ISO RGD:1349615 D RGD:9068941 20200609 RGD mRNA:increased expression:blood (human) PMID:23772643|REF_RGD_ID:11541098 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:874 bacterial pneumonia ISO RGD:61927 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:12524254|REF_RGD_ID:724645 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9000310 Lung Injury ISO RGD:62220 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:lung (mouse) PMID:22806890|REF_RGD_ID:6771215 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9000352 Vascular System Injuries ISO RGD:61927 D RGD:9068941 20200609 RGD PMID:22552115|REF_RGD_ID:6484736 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9000528 Coronary Disease ISO RGD:1349615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Three Vessel Coronary Disease PMID:8532023 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9000656 Penetrating Wounds ISO RGD:1349615 D RGD:9068941 20200609 RGD PMID:22092840|REF_RGD_ID:6771175 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9000656 Penetrating Wounds ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:22615899|REF_RGD_ID:6771227 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:61927 D RGD:9068941 20200609 RGD mRNA:altered expression:jejunum, duodenum, ileum (rat) PMID:22227376|REF_RGD_ID:6767294 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9000998 Brain Injuries ISO RGD:61927 D RGD:9068941 20200609 RGD PMID:22658532|REF_RGD_ID:6484732 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:coronary artery, intima (human) PMID:22336504|REF_RGD_ID:6767292 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1349615 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA:increased expression:glomerulus PMID:15042541|REF_RGD_ID:2311655 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:B cell (human) PMID:12673718|REF_RGD_ID:11541127 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002457 Experimental Arthritis ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:21982514|REF_RGD_ID:6771177 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002457 Experimental Arthritis ISO RGD:62220 D RGD:9068941 20200609 RGD protein:increased expression:knee joint, blood vessels (mouse) PMID:22548760|REF_RGD_ID:6484738 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002457 Experimental Arthritis severity ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:14613294|REF_RGD_ID:6771222 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002488 Peritoneal Fibrosis ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:22101032|REF_RGD_ID:6771356 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002493 Ocular Neovascularization treatment ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:20538980|REF_RGD_ID:11541082 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002589 Bone Fractures ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:21788831|REF_RGD_ID:6771211 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:22832932|REF_RGD_ID:6771355 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9003204 Neovascularization, Pathologic treatment ISO RGD:62220 D RGD:9068941 20200609 RGD Ocular Neovascularization PMID:20538980|REF_RGD_ID:11541082 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:1349615 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L125V (human) PMID:25846278|REF_RGD_ID:11541089 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9004009 Reperfusion Injury ISO RGD:61927 D RGD:9068941 20200609 RGD PMID:12121711|REF_RGD_ID:2311660 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9004009 Reperfusion Injury ISO RGD:61927 D RGD:9068941 20200609 RGD protein:decreased expression:lung (rat) PMID:21872880|REF_RGD_ID:6771206 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9004009 Reperfusion Injury ISO RGD:62220 D RGD:9068941 20200609 RGD protein:increased expression:brain (mouse) PMID:22382321|REF_RGD_ID:6766379 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9004484 Sepsis disease_progression ISO RGD:62220 D RGD:9068941 20200609 RGD protein:increased expression:myeloid suppressor cell (mouse) PMID:22451518|REF_RGD_ID:6771205 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9004593 Drug-Induced Immune Thrombocytopenia ISO RGD:1349615 D RGD:9068941 20200609 RGD PMID:10942385|REF_RGD_ID:11541093 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9004593 Drug-Induced Immune Thrombocytopenia severity ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:17234740|REF_RGD_ID:11541120 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9004610 Acute Lung Injury ISO RGD:61927 D RGD:9068941 20200609 RGD PMID:22592748|REF_RGD_ID:6483494 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61927 D RGD:9068941 20200609 RGD protein:decreased expression:corpus callosum, endothelium (rat) PMID:21967314|REF_RGD_ID:6771179 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9005721 Preeclamptic Toxemia ISO RGD:1349615 D RGD:9068941 20200609 RGD PMID:22534418|REF_RGD_ID:6771230 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9005930 Endotoxemia ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:22119535|REF_RGD_ID:6771174 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9006827 Lung Reperfusion Injury ISO RGD:61927 D RGD:9068941 20200609 RGD PMID:21781312|REF_RGD_ID:6771212 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9006827 Lung Reperfusion Injury ISO RGD:61927 D RGD:9068941 20200609 RGD protein:increased expression:alveolar macrophage (rat) PMID:16449942|REF_RGD_ID:11541083 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:61927 D RGD:9068941 20200609 RGD PMID:8989147|REF_RGD_ID:2311662 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9008 psoriatic arthritis ISO RGD:1349615 D RGD:9068941 20200609 RGD PMID:22751595|REF_RGD_ID:6771221 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9008091 Optic Nerve Injuries ISO RGD:61927 D RGD:9068941 20200609 RGD protein:increased expression:optic nerve (rat) PMID:22336118|REF_RGD_ID:6767293 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:21702037|REF_RGD_ID:6771214 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9008939 Breast Neoplasms ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:21890879|REF_RGD_ID:6771361 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:62220 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow stem cell (mouse) PMID:21984919|REF_RGD_ID:6771358 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9643 babesiosis ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:25539588|REF_RGD_ID:11541121 11679988 PLAAT3 phospholipase A and acyltransferase 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:737532 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11679988 PLAAT3 phospholipase A and acyltransferase 3 gene DOID:1059 intellectual disability ISO RGD:737532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11679988 PLAAT3 phospholipase A and acyltransferase 3 gene DOID:4440 seminoma ISO RGD:737532 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:strong expression in normal tesis and preinvasive carcinoma in situ, no expression in malignant tumors PMID:11526504|REF_RGD_ID:2290002 11679988 PLAAT3 phospholipase A and acyltransferase 3 gene DOID:630 genetic disease ISO RGD:737532 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11679988 PLAAT3 phospholipase A and acyltransferase 3 gene DOID:9004207 Testicular Neoplasms ISO RGD:737532 D RGD:9068941 20200609 RGD non-seminoma testicular germ cell tumors; mRNA:decreased expression:tumor:strong expression in normal tesis and preinvasive carcinoma in situ, no expression in malignant tumors PMID:11526504|REF_RGD_ID:2290002 11679988 PLAAT3 phospholipase A and acyltransferase 3 gene DOID:9008939 Breast Neoplasms ISO RGD:734412 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:tumor:mRNA decreased and protein undetectable in HRAS transgene-induced tumors PMID:9049257|REF_RGD_ID:2290001 11679997 KIAA1671 KIAA1671 ortholog gene DOID:630 genetic disease ISO RGD:2311473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11680015 EML5 EMAP like 5 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:1350172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:28492532 11680015 EML5 EMAP like 5 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1350172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11680015 EML5 EMAP like 5 gene DOID:630 genetic disease ISO RGD:1350172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:0050562 West syndrome treatment ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:24321005|REF_RGD_ID:9588540 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:0060174 GABA aminotransferase deficiency ISO RGD:732065 D RGD:7240710 20180130 OMIM 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:0060174 GABA aminotransferase deficiency ISO RGD:732065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency PMID:10407778|PMID:15642443|PMID:16199547|PMID:17576681|PMID:20052547|PMID:25640679|PMID:25738457|PMID:25741868|PMID:26467025|PMID:27596361|PMID:27903293|PMID:28411234|PMID:28492532|PMID:30617166|PMID:31133775|PMID:6148708|PMID:9536098 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:732065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PMM2-congenital disorder of glycosylation PMID:28492532 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:0080855 Parkinsonism treatment ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:22634324|REF_RGD_ID:9588554 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:732065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:10652 Alzheimer's disease ISO RGD:732065 D RGD:9068941 20200609 RGD PMID:1627256|REF_RGD_ID:10046060 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:10763 hypertension ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:1570022|REF_RGD_ID:1598531 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:11832 visual epilepsy ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:21935729|PMID:2753001|REF_RGD_ID:10047056|REF_RGD_ID:10047087 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:11832 visual epilepsy treatment ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:20109543|REF_RGD_ID:9588535 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:12849 autistic disorder ISO RGD:732065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15830322 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:12858 Huntington's disease ISO RGD:732065 D RGD:9068941 20200609 RGD PMID:6237280|REF_RGD_ID:10046047 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:12858 Huntington's disease treatment ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:152600|REF_RGD_ID:10047058 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:1596 depressive disorder ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:21914462|REF_RGD_ID:9588556 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:1824 status epilepticus ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:9344635|REF_RGD_ID:1598522 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:2538 Landau-Kleffner syndrome ISO RGD:732065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:2548 reflex epilepsy ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:9706369|REF_RGD_ID:1598520 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:326 ischemia ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:10375453|REF_RGD_ID:1598516 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:5679 retinal disease ISO RGD:1332048 D RGD:9068941 20200609 RGD PMID:18412635|REF_RGD_ID:9588533 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:5812 MHC class II deficiency ISO RGD:732065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:630 genetic disease ISO RGD:732065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:8534 gastroesophageal reflux disease ISO RGD:732065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552517 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:732065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552517 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:9001109 Anorexia ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:6534893|REF_RGD_ID:10047083 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:9001733 Tinnitus treatment ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:17221143|REF_RGD_ID:9588534 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:9002211 Hyperalgesia treatment ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:24890317|REF_RGD_ID:9588557 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:9005219 Abnormal Reflexes ISO RGD:732065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10407778 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:9005603 Muscle Hypotonia ISO RGD:732065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10407778 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:9005632 Cocaine-Related Disorders treatment ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:22128851|REF_RGD_ID:9588542 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:9846053|REF_RGD_ID:1598518 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:6445277|PMID:7740056|REF_RGD_ID:10047091|REF_RGD_ID:1598524 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:9008514 Psychomotor Disorders ISO RGD:732065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10407778 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:9008617 Lethargy ISO RGD:732065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10407778 11680064 ABAT 4-aminobutyrate aminotransferase gene DOID:9976 heroin dependence ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:10900239|REF_RGD_ID:10046064 11680105 MAOA monoamine oxidase A gene DOID:0050771 pheochromocytoma ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22569243 11680105 MAOA monoamine oxidase A gene DOID:0060041 autism spectrum disorder ISO RGD:735751 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs6323, rs1801291, rs3027407 (human) PMID:24356376|REF_RGD_ID:11535982 11680105 MAOA monoamine oxidase A gene DOID:0060693 Brunner syndrome ISO RGD:735751 D RGD:7240710 20180130 OMIM 11680105 MAOA monoamine oxidase A gene DOID:0060693 Brunner syndrome ISO RGD:735751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brunner syndrome PMID:11700166|PMID:17296899|PMID:17576681|PMID:20340138|PMID:22382802|PMID:24169519|PMID:25741868|PMID:25807999|PMID:28492532|PMID:30452590|PMID:8211186|PMID:9536098 11680105 MAOA monoamine oxidase A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11680105 MAOA monoamine oxidase A gene DOID:0080000 muscular disease ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15946989 11680105 MAOA monoamine oxidase A gene DOID:0080600 COVID-19 ISO RGD:735751 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11680105 MAOA monoamine oxidase A gene DOID:1059 intellectual disability ISO RGD:735751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11680105 MAOA monoamine oxidase A gene DOID:10652 Alzheimer's disease ISO RGD:735751 D RGD:9068941 20200609 RGD PMID:1627256|REF_RGD_ID:10046060 11680105 MAOA monoamine oxidase A gene DOID:10939 antisocial personality disorder ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12161658|PMID:18212819|PMID:8503438 11680105 MAOA monoamine oxidase A gene DOID:12849 autistic disorder ISO RGD:735751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11680105 MAOA monoamine oxidase A gene DOID:12858 Huntington's disease ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21075085 11680105 MAOA monoamine oxidase A gene DOID:13413 hepatic encephalopathy ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10206825|PMID:10564534|PMID:9048767 11680105 MAOA monoamine oxidase A gene DOID:14330 Parkinson's disease ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17449559 11680105 MAOA monoamine oxidase A gene DOID:150 disease of mental health ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22340208 11680105 MAOA monoamine oxidase A gene DOID:1561 cognitive disorder ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24402517 11680105 MAOA monoamine oxidase A gene DOID:1574 alcohol use disorder susceptibility ISO RGD:735751 D RGD:9068941 20200609 RGD PMID:15900229|REF_RGD_ID:1600720 11680105 MAOA monoamine oxidase A gene DOID:289 endometriosis ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 11680105 MAOA monoamine oxidase A gene DOID:594 panic disorder ISO RGD:735751 D RGD:9068941 20200609 RGD PMID:15670397|REF_RGD_ID:1600723 11680105 MAOA monoamine oxidase A gene DOID:630 genetic disease ISO RGD:735751 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11680105 MAOA monoamine oxidase A gene DOID:6364 migraine no_association ISO RGD:735751 D RGD:9068941 20200609 RGD PMID:15088153|REF_RGD_ID:1600725 11680105 MAOA monoamine oxidase A gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22340208 11680105 MAOA monoamine oxidase A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11680105 MAOA monoamine oxidase A gene DOID:9004797 Fetal Nutrition Disorders ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22340208 11680105 MAOA monoamine oxidase A gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8503438 11680105 MAOA monoamine oxidase A gene DOID:9006024 Hypotension ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11834493 11680105 MAOA monoamine oxidase A gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:735751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:22197486|PMID:23076834|PMID:23354975|PMID:23913813|PMID:25972376|PMID:28492532 11680105 MAOA monoamine oxidase A gene DOID:9007996 End Stage Liver Disease ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15025246 11680124 MAP7D2 MAP7 domain containing 2 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1605254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11680124 MAP7D2 MAP7 domain containing 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11680124 MAP7D2 MAP7 domain containing 2 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1605254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11680124 MAP7D2 MAP7 domain containing 2 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1605254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11680124 MAP7D2 MAP7 domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1605254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11680124 MAP7D2 MAP7 domain containing 2 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1605254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11680124 MAP7D2 MAP7 domain containing 2 gene DOID:630 genetic disease ISO RGD:1605254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11680124 MAP7D2 MAP7 domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11680146 MSMO1 methylsterol monooxygenase 1 gene DOID:630 genetic disease ISO RGD:737148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21285510 11680146 MSMO1 methylsterol monooxygenase 1 gene DOID:9002853 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis ISO RGD:737148 D RGD:7240710 20190315 OMIM 11680146 MSMO1 methylsterol monooxygenase 1 gene DOID:9002853 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis ISO RGD:737148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, congenital cataract, and psoriasiform dermatitis PMID:21285510|PMID:24144731 11680167 LOC100987752 actin alpha cardiac muscle 1 gene DOID:0050700 cardiomyopathy ISO RGD:735789 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10494087|PMID:10966831|PMID:11052860|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17576681|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:22555271|PMID:22590617|PMID:23054336|PMID:23283745|PMID:24033266|PMID:24736382|PMID:25163546|PMID:25741868|PMID:27532257|PMID:28138913|PMID:28408708|PMID:28416588|PMID:28492532|PMID:28798025|PMID:30371277|PMID:30471092|PMID:30847666|PMID:31246743|PMID:31430208|PMID:31434612|PMID:32815737|PMID:32880476|PMID:34011823|PMID:34088380|PMID:34935411|PMID:9536098|PMID:9563954 11680167 LOC100987752 actin alpha cardiac muscle 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:735789 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11680167 LOC100987752 actin alpha cardiac muscle 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:735789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:24033266|PMID:24736382|PMID:25524337|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30371277 11680167 LOC100987752 actin alpha cardiac muscle 1 gene DOID:0110110 atrial heart septal defect 5 ISO RGD:735789 D RGD:7240710 20180130 OMIM 11680167 LOC100987752 actin alpha cardiac muscle 1 gene DOID:0110110 atrial heart septal defect 5 ISO RGD:735789 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Atrial septal defect 5 PMID:10494087|PMID:10966831|PMID:11052860|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:21839045|PMID:22464770|PMID:22555271|PMID:22563033|PMID:23054336|PMID:24033266|PMID:24461919|PMID:24736382|PMID:25163546|PMID:25239116|PMID:25741868|PMID:27532257|PMID:27561770|PMID:28138913|PMID:28416588|PMID:28492532|PMID:28790153|PMID:28798025|PMID:29764897|PMID:30371277|PMID:30471092|PMID:30847666|PMID:31246743|PMID:31430208|PMID:31434612|PMID:32880476|PMID:33500567|PMID:34088380|PMID:34935411 11680167 LOC100987752 actin alpha cardiac muscle 1 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:735789 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:24033266|PMID:24736382|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30371277 11680167 LOC100987752 actin alpha cardiac muscle 1 gene DOID:0110317 hypertrophic cardiomyopathy 11 ISO RGD:735789 D RGD:7240710 20180130 OMIM 11680167 LOC100987752 actin alpha cardiac muscle 1 gene DOID:0110317 hypertrophic cardiomyopathy 11 ISO RGD:735789 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 PMID:10330430|PMID:10494087|PMID:10966831|PMID:11052860|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16199547|PMID:16267253|PMID:16611632|PMID:17576681|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18403758|PMID:18458017|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19562689|PMID:19799913|PMID:20497191|PMID:20600154|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:21839045|PMID:22464770|PMID:22555271|PMID:22563033|PMID:22590617|PMID:23054336|PMID:23283745|PMID:24033266|PMID:24461919|PMID:24503780|PMID:24691700|PMID:24736382|PMID:24793351|PMID:25132132|PMID:25163546|PMID:25239116|PMID:25524337|PMID:25741868|PMID:26914223|PMID:27125413|PMID:27532257|PMID:27561770|PMID:27600940|PMID:28138913|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28973083|PMID:29121657|PMID:29440008|PMID:29719515|PMID:29764897|PMID:30297972|PMID:30371277|PMID:30471092|PMID:30600190|PMID:30685992|PMID:30762279|PMID:30847666|PMID:31246743|PMID:31430208|PMID:31434612|PMID:31481237|PMID:32815737|PMID:32880476|PMID:33049292|PMID:33500567|PMID:34011823|PMID:34088380|PMID:34935411|PMID:9536098|PMID:9563954 11680167 LOC100987752 actin alpha cardiac muscle 1 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:735789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868|PMID:28492532 11680167 LOC100987752 actin alpha cardiac muscle 1 gene DOID:0110456 dilated cardiomyopathy 1R ISO RGD:735789 D RGD:7240710 20180228 OMIM 11680167 LOC100987752 actin alpha cardiac muscle 1 gene DOID:0110456 dilated cardiomyopathy 1R ISO RGD:735789 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1R PMID:10494087|PMID:10966831|PMID:11052860|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20600154|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:21839045|PMID:22555271|PMID:22563033|PMID:22590617|PMID:23054336|PMID:23283745|PMID:24033266|PMID:24461919|PMID:24736382|PMID:25163546|PMID:25239116|PMID:25741868|PMID:27532257|PMID:27561770|PMID:28138913|PMID:28416588|PMID:28492532|PMID:28790153|PMID:28798025|PMID:28973083|PMID:29719515|PMID:29764897|PMID:30371277|PMID:30471092|PMID:30847666|PMID:31246743|PMID:31430208|PMID:31434612|PMID:32880476|PMID:33500567|PMID:34011823|PMID:34088380|PMID:34935411|PMID:9563954 11680167 LOC100987752 actin alpha cardiac muscle 1 gene DOID:10763 hypertension ISO RGD:2026 D RGD:9068941 20200609 RGD PMID:16343576|REF_RGD_ID:1598724 11680167 LOC100987752 actin alpha cardiac muscle 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:735789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17576681|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:21839045|PMID:22563033|PMID:24033266|PMID:24736382|PMID:25239116|PMID:25741868|PMID:27532257|PMID:28408708|PMID:28492532|PMID:28790153|PMID:30371277|PMID:9536098 11680167 LOC100987752 actin alpha cardiac muscle 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:735789 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:24033266|PMID:24503780|PMID:24736382|PMID:25201647|PMID:25741868|PMID:27532257|PMID:28492532 11680167 LOC100987752 actin alpha cardiac muscle 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:735789 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:24033266|PMID:24503780|PMID:24736382|PMID:25201647|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30371277 11680167 LOC100987752 actin alpha cardiac muscle 1 gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:735789 D RGD:9068941 20200609 RGD DNA:point mutations: :p.Arg312His, p.Glu361Gly (human) PMID:9563954|REF_RGD_ID:1559158 11680167 LOC100987752 actin alpha cardiac muscle 1 gene DOID:1882 atrial heart septal defect ISO RGD:735789 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:28492532 11680167 LOC100987752 actin alpha cardiac muscle 1 gene DOID:2717 Bloom syndrome ISO RGD:735789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11680167 LOC100987752 actin alpha cardiac muscle 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:735789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 11680167 LOC100987752 actin alpha cardiac muscle 1 gene DOID:397 restrictive cardiomyopathy ISO RGD:735789 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy PMID:28492532 11680167 LOC100987752 actin alpha cardiac muscle 1 gene DOID:630 genetic disease ISO RGD:735789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:28973083 11680167 LOC100987752 actin alpha cardiac muscle 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:735789 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 11680167 LOC100987752 actin alpha cardiac muscle 1 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:735789 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:28492532 11680167 LOC100987752 actin alpha cardiac muscle 1 gene DOID:9005930 Endotoxemia ISO RGD:2026 D RGD:9068941 20200609 RGD PMID:11680626|REF_RGD_ID:1598729 11680167 LOC100987752 actin alpha cardiac muscle 1 gene DOID:9256 colorectal cancer ISO RGD:735789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11680167 LOC100987752 actin alpha cardiac muscle 1 gene DOID:9835 refractive error ISO RGD:735789 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20835239 11680181 MEI1 meiotic double-stranded break formation protein 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1642765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11680181 MEI1 meiotic double-stranded break formation protein 1 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1642765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 11680181 MEI1 meiotic double-stranded break formation protein 1 gene DOID:630 genetic disease ISO RGD:1642765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11680181 MEI1 meiotic double-stranded break formation protein 1 gene DOID:9005301 Hydatidiform Mole, Recurrent, 3 ISO RGD:1642765 D RGD:7240710 20190612 OMIM 11680181 MEI1 meiotic double-stranded break formation protein 1 gene DOID:9005301 Hydatidiform Mole, Recurrent, 3 ISO RGD:1642765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 3 PMID:25741868|PMID:30388401 11680216 NEFH neurofilament heavy chain gene DOID:0040089 autoimmune optic neuritis severity ISO RGD:736723 D RGD:9068941 20200609 RGD PMID:23316360|REF_RGD_ID:27226805 11680216 NEFH neurofilament heavy chain gene DOID:0050328 congenital hypothyroidism ISO RGD:3159 D RGD:9068941 20200609 RGD protein:decreased expression, increased phosphorylation PMID:18845185|REF_RGD_ID:9693732 11680216 NEFH neurofilament heavy chain gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:736723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:25741868|PMID:28492532 11680216 NEFH neurofilament heavy chain gene DOID:0060193 amyotrophic lateral sclerosis type 1 susceptibility ISO RGD:736723 D RGD:7240710 20230517 OMIM 11680216 NEFH neurofilament heavy chain gene DOID:0110180 Charcot-Marie-Tooth disease axonal type 2CC ISO RGD:736723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2CC PMID:25741868|PMID:27040688|PMID:28492532|PMID:29587262|PMID:30992180 11680216 NEFH neurofilament heavy chain gene DOID:0110180 Charcot-Marie-Tooth disease axonal type 2CC susceptibility ISO RGD:736723 D RGD:7240710 20230517 OMIM 11680216 NEFH neurofilament heavy chain gene DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C ISO RGD:736723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C PMID:25741868 11680216 NEFH neurofilament heavy chain gene DOID:0111252 neurofibromatosis 2 ISO RGD:736723 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 11680216 NEFH neurofilament heavy chain gene DOID:11260 rabies ISO RGD:10969 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord: PMID:29509660|REF_RGD_ID:27226884 11680216 NEFH neurofilament heavy chain gene DOID:11446 sciatic neuropathy ISO RGD:3159 D RGD:9068941 20200609 RGD PMID:3135913|REF_RGD_ID:9693730 11680216 NEFH neurofilament heavy chain gene DOID:11446 sciatic neuropathy treatment ISO RGD:3159 D RGD:9068941 20200609 RGD PMID:12445968|REF_RGD_ID:9743941 11680216 NEFH neurofilament heavy chain gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:736723 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:27929120|REF_RGD_ID:127284887 11680216 NEFH neurofilament heavy chain gene DOID:1210 optic neuritis ISO RGD:736723 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:29085182|REF_RGD_ID:27226813 11680216 NEFH neurofilament heavy chain gene DOID:1210 optic neuritis severity ISO RGD:736723 D RGD:9068941 20200609 RGD PMID:15258226|REF_RGD_ID:27226814 11680216 NEFH neurofilament heavy chain gene DOID:1459 hypothyroidism treatment ISO RGD:3159 D RGD:9068941 20200609 RGD PMID:10439464|REF_RGD_ID:9743942 11680216 NEFH neurofilament heavy chain gene DOID:1686 glaucoma ISO RGD:3159 D RGD:9068941 20200609 RGD protein:decreased expression:optic nerve: PMID:28498493|REF_RGD_ID:27226819 11680216 NEFH neurofilament heavy chain gene DOID:224 transient cerebral ischemia ISO RGD:3159 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:8726968|REF_RGD_ID:9743938 11680216 NEFH neurofilament heavy chain gene DOID:2377 multiple sclerosis severity ISO RGD:736723 D RGD:9068941 20200609 RGD PMID:16764346|REF_RGD_ID:27226808 11680216 NEFH neurofilament heavy chain gene DOID:2378 relapsing-remitting multiple sclerosis treatment ISO RGD:736723 D RGD:9068941 20200609 RGD PMID:15222692|REF_RGD_ID:27226879 11680216 NEFH neurofilament heavy chain gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532 11680216 NEFH neurofilament heavy chain gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:10969 D RGD:9068941 20200609 RGD PMID:10686419|REF_RGD_ID:13525000 11680216 NEFH neurofilament heavy chain gene DOID:3525 middle cerebral artery infarction ISO RGD:10969 D RGD:9068941 20201211 RGD PMID:29967576|REF_RGD_ID:27226878 11680216 NEFH neurofilament heavy chain gene DOID:574 peripheral nervous system disease ISO RGD:736723 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 11680216 NEFH neurofilament heavy chain gene DOID:630 genetic disease ISO RGD:736723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23056405|PMID:25741868|PMID:27040688|PMID:28492532|PMID:28709447|PMID:28717666|PMID:29587262|PMID:30992180|PMID:33589474|PMID:9536098 11680216 NEFH neurofilament heavy chain gene DOID:7442 monoclonal gammopathy of uncertain significance ISO RGD:736723 D RGD:9068941 20200609 RGD associated with Peripheral Nervous System Diseases PMID:12536221|REF_RGD_ID:9693726 11680216 NEFH neurofilament heavy chain gene DOID:870 neuropathy ISO RGD:736723 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 11680216 NEFH neurofilament heavy chain gene DOID:8869 neuromyelitis optica ISO RGD:736723 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:23316360|REF_RGD_ID:27226805 11680216 NEFH neurofilament heavy chain gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:3159 D RGD:9068941 20200609 RGD PMID:18772508|PMID:32168135|REF_RGD_ID:27226888|REF_RGD_ID:9698443 11680216 NEFH neurofilament heavy chain gene DOID:9000794 Sporadic Creutzfeldt-Jakob Disease ISO RGD:736723 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:27929120|REF_RGD_ID:127284887 11680216 NEFH neurofilament heavy chain gene DOID:9001767 Unilateral Hearing Loss disease_progression ISO RGD:3159 D RGD:9068941 20200609 RGD PMID:27457532|REF_RGD_ID:27372873 11680216 NEFH neurofilament heavy chain gene DOID:9002211 Hyperalgesia treatment ISO RGD:3159 D RGD:9068941 20200609 RGD PMID:21071147|REF_RGD_ID:27226885 11680216 NEFH neurofilament heavy chain gene DOID:9002498 Wallerian Degeneration ISO RGD:3159 D RGD:9068941 20200609 RGD protein:decreased expression:neuron PMID:10646539|REF_RGD_ID:9698439 11680216 NEFH neurofilament heavy chain gene DOID:9003034 Anti-N-Methyl-D-Aspartate Receptor Encephalitis treatment ISO RGD:736723 D RGD:9068941 20200609 RGD PMID:31313506|REF_RGD_ID:27226816 11680216 NEFH neurofilament heavy chain gene DOID:9003740 Nerve Injuries treatment ISO RGD:3159 D RGD:9068941 20200609 RGD PMID:24269493|REF_RGD_ID:27226886 11680216 NEFH neurofilament heavy chain gene DOID:9004484 Sepsis severity ISO RGD:736723 D RGD:9068941 20200609 RGD PMID:30677080|REF_RGD_ID:27226881 11680216 NEFH neurofilament heavy chain gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:3159 D RGD:9068941 20200609 RGD PMID:12941778|REF_RGD_ID:9698428 11680216 NEFH neurofilament heavy chain gene DOID:9006380 Bilateral Hearing Loss disease_progression ISO RGD:3159 D RGD:9068941 20200609 RGD PMID:27457532|REF_RGD_ID:27372873 11680216 NEFH neurofilament heavy chain gene DOID:9007752 Chronic Relapsing Experimental Autoimmune Encephalomyelitis ISO RGD:10969 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord: PMID:12742652|REF_RGD_ID:27226817 11680216 NEFH neurofilament heavy chain gene DOID:9007842 Sepsis-Associated Encephalopathy severity ISO RGD:736723 D RGD:9068941 20200609 RGD PMID:30677080|REF_RGD_ID:27226881 11680216 NEFH neurofilament heavy chain gene DOID:9008952 Breast Cancer, Familial ISO RGD:736723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 11680216 NEFH neurofilament heavy chain gene DOID:9281 phenylketonuria ISO RGD:3159 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:7507064|REF_RGD_ID:9693700 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) gene DOID:0050758 metabolic acidosis ISO RGD:3710 D RGD:9068941 20200609 RGD protein:increased expression:renal cortex, renal medulla (rat) PMID:19439519|REF_RGD_ID:7242944 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:737027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) gene DOID:0110919 hereditary spherocytosis type 4 ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis type 4 | ClinVar Annotator: match by term: Spherocytosis type 4 PMID:10403343|PMID:10745622|PMID:10766130|PMID:10926824|PMID:10942416|PMID:11155072|PMID:11208088|PMID:11380459|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:1419785|PMID:14618420|PMID:1520883|PMID:16107207|PMID:16227998|PMID:16420521|PMID:1678289|PMID:1696010|PMID:17215882|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19289107|PMID:19565014|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:20799361|PMID:21039340|PMID:2146504|PMID:2196932|PMID:22126643|PMID:22518001|PMID:22609520|PMID:23255290|PMID:24033266|PMID:24652967|PMID:25111073|PMID:2527366|PMID:25296721|PMID:25741868|PMID:26571219|PMID:26879370|PMID:27058983|PMID:27292444|PMID:28045035|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29572776|PMID:29627839|PMID:30192042|PMID:30230413|PMID:31122244|PMID:31147440|PMID:31672324|PMID:31959358|PMID:32071839|PMID:32266426|PMID:33532864|PMID:34093240|PMID:35738466|PMID:6338046|PMID:7530501|PMID:7689982|PMID:7812009|PMID:7919393|PMID:7949112|PMID:8011524|PMID:8206915|PMID:8282779|PMID:8343110|PMID:8434259|PMID:8471774|PMID:8547122|PMID:8567957|PMID:8608262|PMID:8640229|PMID:8704215|PMID:893429|PMID:8943874|PMID:9012689|PMID:9207478|PMID:9233560|PMID:9312167|PMID:9565662|PMID:9734643|PMID:9854053|PMID:9973643 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) gene DOID:11758 iron deficiency anemia ISO RGD:3710 D RGD:9068941 20200609 RGD protein:decreased expression:erythrocyte, membrane (rat) PMID:1317772|REF_RGD_ID:10450513 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) gene DOID:12365 malaria ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malaria, cerebral, resistance to | ClinVar Annotator: match by term: Malaria, susceptibility to PMID:10403343|PMID:10926824|PMID:10942416|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:14618420|PMID:16107207|PMID:16420521|PMID:17215882|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19289107|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:20799361|PMID:2146504|PMID:22126643|PMID:22518001|PMID:22609520|PMID:23255290|PMID:24652967|PMID:25741868|PMID:28045035|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:30192042|PMID:30230413|PMID:31147440|PMID:31672324|PMID:31959358|PMID:32071839|PMID:33532864|PMID:35738466|PMID:6338046|PMID:7689982|PMID:7919393|PMID:7949112|PMID:8434259|PMID:8704215|PMID:9207478|PMID:9312167|PMID:9854053 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) gene DOID:12971 hereditary spherocytosis ISO RGD:737027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spherocytosis, Dominant 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) gene DOID:1386 abetalipoproteinemia ISO RGD:737027 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Acanthocytosis PMID:1696010|PMID:2527366|PMID:28492532|PMID:8343110 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) gene DOID:14219 renal tubular acidosis ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis | ClinVar Annotator: match by term: Renal tubular acidosis PMID:10403343|PMID:10926824|PMID:11934690|PMID:12750988|PMID:1378323|PMID:14618420|PMID:14734552|PMID:16107207|PMID:16420521|PMID:1722314|PMID:1737855|PMID:18524859|PMID:19229254|PMID:19289107|PMID:20151848|PMID:20421175|PMID:20799361|PMID:2146504|PMID:22126643|PMID:24652967|PMID:25741868|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:28638614|PMID:29627839|PMID:30230413|PMID:31672324|PMID:31959358|PMID:32154456|PMID:32632909|PMID:33532864|PMID:34159584|PMID:35738466|PMID:4116984|PMID:6338046|PMID:7689982|PMID:7919393|PMID:7949112|PMID:8210309|PMID:8434259|PMID:9312167|PMID:9600966 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) gene DOID:1588 thrombocytopenia ISO RGD:11309 D RGD:9068941 20200609 RGD mRNA:decreased expression:erythrocyte (mouse) PMID:22279059|REF_RGD_ID:10450520 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) gene DOID:2373 hereditary elliptocytosis ISO RGD:737027 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stomatocytic elliptocytosis, hereditary PMID:10403343|PMID:10926824|PMID:10942416|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:14618420|PMID:16107207|PMID:16420521|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:2146504|PMID:22126643|PMID:23255290|PMID:24652967|PMID:25741868|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:30192042|PMID:30230413|PMID:31147440|PMID:31672324|PMID:31959358|PMID:33532864|PMID:35738466|PMID:6338046|PMID:7689982|PMID:7919393|PMID:7949112|PMID:8434259|PMID:8704215|PMID:9207478|PMID:9312167|PMID:9854053 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) gene DOID:2373 hereditary elliptocytosis ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stomatocytic elliptocytosis, hereditary PMID:10403343|PMID:10926824|PMID:10942416|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:14618420|PMID:16107207|PMID:16420521|PMID:17215882|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19289107|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:20799361|PMID:2146504|PMID:22126643|PMID:22518001|PMID:22609520|PMID:23255290|PMID:24652967|PMID:25741868|PMID:28045035|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:30192042|PMID:30230413|PMID:31147440|PMID:31672324|PMID:31959358|PMID:32071839|PMID:33532864|PMID:35738466|PMID:6338046|PMID:7689982|PMID:7919393|PMID:7949112|PMID:8434259|PMID:8704215|PMID:9207478|PMID:9312167|PMID:9854053 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) gene DOID:2862 glucosephosphate dehydrogenase deficiency ISO RGD:737027 D RGD:9068941 20200609 RGD protein:increased phosphorylation:erythrocyte (human) PMID:21246053|REF_RGD_ID:10450516 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) gene DOID:583 hemolytic anemia ISO RGD:737027 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hemolytic anemia PMID:11155072|PMID:1419785|PMID:1520883|PMID:1678289|PMID:1696010|PMID:19229254|PMID:21039340|PMID:2146504|PMID:2196932|PMID:23255290|PMID:24033266|PMID:25111073|PMID:2527366|PMID:25296721|PMID:25741868|PMID:26571219|PMID:26879370|PMID:28492532|PMID:35738466|PMID:7812009|PMID:8206915|PMID:8343110|PMID:8471774|PMID:8608262|PMID:8704215|PMID:893429 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) gene DOID:589 congenital hemolytic anemia ISO RGD:11309 D RGD:9068941 20200609 RGD PMID:8841202|REF_RGD_ID:10450509 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) gene DOID:589 congenital hemolytic anemia ISO RGD:737027 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple (human) PMID:16227998|REF_RGD_ID:10450505 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) gene DOID:630 genetic disease ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11934690|PMID:16420521|PMID:25741868|PMID:28492532|PMID:29627839|PMID:30230413|PMID:31959358|PMID:32154456|PMID:35738466|PMID:4116984|PMID:8210309|PMID:9312167|PMID:9600966 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) gene DOID:718 autoimmune hemolytic anemia ISO RGD:11309 D RGD:9068941 20200609 RGD PMID:8325343|REF_RGD_ID:10450476 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) gene DOID:74 hematopoietic system disease ISO RGD:737027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8343110 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9001003 Distal Renal Tubular Acidosis, with Normal Red Cell Morphology ISO RGD:737027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal tubular acidosis, distal, with normal red cell morphology PMID:15211439 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9003197 Vaso-occlusive Crisis ISO RGD:737027 D RGD:9068941 20200609 RGD PMID:23643401|REF_RGD_ID:11100023 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9003936 Cardiomegaly ISO RGD:11309 D RGD:9068941 20200609 RGD associated with Anemia, Hemolytic PMID:17056673|REF_RGD_ID:10450496 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9004970 Distal Renal Tubular Acidosis 1 ISO RGD:737027 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal renal tubular acidosis | ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Dominant | ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 1 | ClinVar Annotator: match by term: RTA, distal type, autosomal dominant PMID:10403343|PMID:10926824|PMID:10942416|PMID:11155072|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:1419785|PMID:14618420|PMID:1520883|PMID:16107207|PMID:16420521|PMID:1678289|PMID:1696010|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:21039340|PMID:2146504|PMID:2196932|PMID:22126643|PMID:23255290|PMID:24033266|PMID:24652967|PMID:25111073|PMID:2527366|PMID:25296721|PMID:25741868|PMID:26571219|PMID:26879370|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:30192042|PMID:30230413|PMID:30256676|PMID:31147440|PMID:31672324|PMID:31959358|PMID:33532864|PMID:35738466|PMID:4116984|PMID:6338046|PMID:7689982|PMID:7812009|PMID:7919393|PMID:7949112|PMID:8206915|PMID:8210309|PMID:8343110|PMID:8434259|PMID:8471774|PMID:8608262|PMID:8704215|PMID:893429|PMID:9207478|PMID:9312167|PMID:9600966|PMID:9734643|PMID:9854053 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9004970 Distal Renal Tubular Acidosis 1 ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal renal tubular acidosis | ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Dominant | ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 1 | ClinVar Annotator: match by term: RTA, distal type, autosomal dominant | ClinVar Annotator: match by term: Renal Tubular Acidosis, Type I PMID:10403343|PMID:10926824|PMID:10942416|PMID:11155072|PMID:11934690|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:1419785|PMID:14618420|PMID:1520883|PMID:16107207|PMID:16420521|PMID:1678289|PMID:1696010|PMID:17215882|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19289107|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:20799361|PMID:21039340|PMID:2146504|PMID:2196932|PMID:22126643|PMID:22518001|PMID:22609520|PMID:23255290|PMID:24033266|PMID:24652967|PMID:25111073|PMID:2527366|PMID:25296721|PMID:25741868|PMID:26571219|PMID:26879370|PMID:28045035|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:30192042|PMID:30230413|PMID:30256676|PMID:31147440|PMID:31672324|PMID:31959358|PMID:32071839|PMID:32154456|PMID:33532864|PMID:35738466|PMID:4116984|PMID:6338046|PMID:7689982|PMID:7812009|PMID:7919393|PMID:7949112|PMID:8206915|PMID:8210309|PMID:8343110|PMID:8434259|PMID:8471774|PMID:8608262|PMID:8704215|PMID:893429|PMID:9207478|PMID:9312167|PMID:9600966|PMID:9734643|PMID:9854053 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9005267 Potassium Deficiency ISO RGD:3710 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:renal cortex, renal medulla (rat) PMID:17804457|REF_RGD_ID:8554499 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9005808 Distal Renal Tubular Acidosis 3, Autosomal Recessive ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing PMID:25741868|PMID:28492532|PMID:35738466 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9006575 Vitamin E Deficiency ISO RGD:3710 D RGD:9068941 20200609 RGD protein:increased degradation:erythrocyte, membrane (rat) PMID:3458208|REF_RGD_ID:10450477 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9007331 Alkalosis ISO RGD:3710 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:kidney: PMID:10600930|REF_RGD_ID:13208945 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9007406 Distal Renal Tubular Acidosis ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:10403343|PMID:10926824|PMID:11934690|PMID:1378323|PMID:14618420|PMID:16107207|PMID:16420521|PMID:1722314|PMID:1737855|PMID:19229254|PMID:19289107|PMID:20151848|PMID:20421175|PMID:20799361|PMID:2146504|PMID:22126643|PMID:24652967|PMID:25741868|PMID:28188436|PMID:28492532|PMID:29627839|PMID:30230413|PMID:31672324|PMID:31959358|PMID:32154456|PMID:35738466|PMID:4116984|PMID:6338046|PMID:7689982|PMID:7919393|PMID:7949112|PMID:8210309|PMID:8434259|PMID:9312167|PMID:9600966 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9007818 Distal Renal Tubular Acidosis 4 with Hemolytic Anemia ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA | ClinVar Annotator: match by term: Renal tubular acidosis, distal, 4, with hemolytic anemia PMID:10403343|PMID:10926824|PMID:10942416|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:14618420|PMID:15211439|PMID:16107207|PMID:16420521|PMID:17215882|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19289107|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:20799361|PMID:2146504|PMID:22126643|PMID:22518001|PMID:22609520|PMID:23255290|PMID:24652967|PMID:25741868|PMID:28045035|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:30192042|PMID:30230413|PMID:31147440|PMID:31672324|PMID:31959358|PMID:32071839|PMID:33532864|PMID:35738466|PMID:6338046|PMID:7689982|PMID:7919393|PMID:7949112|PMID:8434259|PMID:8704215|PMID:9207478|PMID:9312167|PMID:9854053 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9008560 Pseudohyperkalemia, Familial, 2, due to Red Cell Leak ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cryohydrocytosis | ClinVar Annotator: match by term: Stomatocytosis, cold-sensitive PMID:10050708|PMID:10403343|PMID:10554820|PMID:10926824|PMID:10942416|PMID:11442486|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:14618420|PMID:15142123|PMID:16107207|PMID:16227998|PMID:16420521|PMID:17215882|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19289107|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:20799361|PMID:21039340|PMID:2146504|PMID:22126643|PMID:22518001|PMID:22609520|PMID:23255290|PMID:24652967|PMID:25741868|PMID:28045035|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:30192042|PMID:30230413|PMID:31147440|PMID:31672324|PMID:31959358|PMID:32071839|PMID:33532864|PMID:35738466|PMID:6338046|PMID:7689982|PMID:7831176|PMID:7919393|PMID:7949112|PMID:8434259|PMID:8471774|PMID:8704215|PMID:9207478|PMID:9312167|PMID:9854053 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9008765 Malarial Anemia severity ISO RGD:737027 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-5699T>C (human) PMID:16960783|REF_RGD_ID:10450507 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9008912 Ovalocytosis, Malaysian-Melanesian-Filipino Type ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Elliptocytosis 4 | ClinVar Annotator: match by term: Southeast Asian ovalocytosis PMID:10403343|PMID:10926824|PMID:10942416|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:14618420|PMID:16107207|PMID:16420521|PMID:17215882|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19289107|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:20799361|PMID:2146504|PMID:22126643|PMID:22518001|PMID:22609520|PMID:23255290|PMID:24652967|PMID:25741868|PMID:28045035|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:30192042|PMID:30230413|PMID:31147440|PMID:31672324|PMID:31959358|PMID:32071839|PMID:33532864|PMID:35738466|PMID:6338046|PMID:7689982|PMID:7919393|PMID:7949112|PMID:8434259|PMID:8704215|PMID:9207478|PMID:9312167|PMID:9854053 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9009133 ACANTHOCYTOSIS ISO RGD:737027 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Acanthocytosis due to band 3 ht PMID:1696010|PMID:2527366|PMID:28492532|PMID:8343110 11680254 PRELP proline and arginine rich end leucine rich repeat protein gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:732559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11680254 PRELP proline and arginine rich end leucine rich repeat protein gene DOID:1540 parathyroid carcinoma ISO RGD:732559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11680254 PRELP proline and arginine rich end leucine rich repeat protein gene DOID:630 genetic disease ISO RGD:732559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11680254 PRELP proline and arginine rich end leucine rich repeat protein gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:732559 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11680254 PRELP proline and arginine rich end leucine rich repeat protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11680267 LOC100990610 cytochrome c oxidase assembly factor 7 gene DOID:630 genetic disease ISO RGD:1606511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11680267 LOC100990610 cytochrome c oxidase assembly factor 7 gene DOID:9008083 Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 3 ISO RGD:1606511 D RGD:7240710 20190515 OMIM 11680267 LOC100990610 cytochrome c oxidase assembly factor 7 gene DOID:9008083 Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 3 ISO RGD:1606511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 PMID:25741868|PMID:27683825|PMID:28492532|PMID:29718187|PMID:30885959 11680274 PLD3 phospholipase D family member 3 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1317914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:15197604|PMID:15469949|PMID:16770524|PMID:22847150|PMID:24011642|PMID:25741868|PMID:26059842|PMID:28492532|PMID:32376792 11680274 PLD3 phospholipase D family member 3 gene DOID:0080288 spinocerebellar ataxia 46 ISO RGD:1317914 D RGD:7240710 20190315 OMIM 11680274 PLD3 phospholipase D family member 3 gene DOID:0080288 spinocerebellar ataxia 46 ISO RGD:1317914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 46 PMID:15197604|PMID:15469949|PMID:16770524|PMID:22847150|PMID:24011642|PMID:25741868|PMID:26059842|PMID:28492532|PMID:29053796|PMID:32376792|PMID:8595484 11680274 PLD3 phospholipase D family member 3 gene DOID:0080600 COVID-19 ISO RGD:1317914 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11680274 PLD3 phospholipase D family member 3 gene DOID:0110051 Alzheimer's disease 19 ISO RGD:1317914 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Alzheimer disease 19 PMID:24336208|PMID:25832408|PMID:25832410|PMID:25832411|PMID:28492532 11680274 PLD3 phospholipase D family member 3 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1317914 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11680274 PLD3 phospholipase D family member 3 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1317914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:15197604|PMID:15469949|PMID:16770524|PMID:22847150|PMID:24011642|PMID:25741868|PMID:26059842|PMID:28492532|PMID:32376792 11680274 PLD3 phospholipase D family member 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1317914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11680274 PLD3 phospholipase D family member 3 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1317914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11680274 PLD3 phospholipase D family member 3 gene DOID:2340 craniosynostosis ISO RGD:1317914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11680274 PLD3 phospholipase D family member 3 gene DOID:630 genetic disease ISO RGD:1317914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11680274 PLD3 phospholipase D family member 3 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1317914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11680274 PLD3 phospholipase D family member 3 gene DOID:9269 maple syrup urine disease ISO RGD:1317914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11680274 PLD3 phospholipase D family member 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317914 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11680312 ETFRF1 electron transfer flavoprotein regulatory factor 1 gene DOID:630 genetic disease ISO RGD:1606960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11680341 RGS13 regulator of G protein signaling 13 gene DOID:1540 parathyroid carcinoma ISO RGD:1604849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11680341 RGS13 regulator of G protein signaling 13 gene DOID:630 genetic disease ISO RGD:1604849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11680341 RGS13 regulator of G protein signaling 13 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1604849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:28774260 11680341 RGS13 regulator of G protein signaling 13 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11680353 ZFAND5 zinc finger AN1-type containing 5 gene DOID:630 genetic disease ISO RGD:1349305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11680353 ZFAND5 zinc finger AN1-type containing 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 11680399 CYP2C8 cytochrome P450 family 2 subfamily C member 8 gene DOID:0060041 autism spectrum disorder ISO RGD:1606589 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11680399 CYP2C8 cytochrome P450 family 2 subfamily C member 8 gene DOID:1073 renal hypertension ISO RGD:1606589 D RGD:9068941 20200609 RGD PMID:20495177|REF_RGD_ID:7243143 11680399 CYP2C8 cytochrome P450 family 2 subfamily C member 8 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1606589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 11680399 CYP2C8 cytochrome P450 family 2 subfamily C member 8 gene DOID:557 kidney disease ISO RGD:1606589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18769365 11680399 CYP2C8 cytochrome P450 family 2 subfamily C member 8 gene DOID:574 peripheral nervous system disease ISO RGD:1606589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27736846 11680399 CYP2C8 cytochrome P450 family 2 subfamily C member 8 gene DOID:630 genetic disease ISO RGD:1606589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11680399 CYP2C8 cytochrome P450 family 2 subfamily C member 8 gene DOID:684 hepatocellular carcinoma ISO RGD:1606589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11680399 CYP2C8 cytochrome P450 family 2 subfamily C member 8 gene DOID:783 end stage renal disease ISO RGD:1606589 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:18769365|REF_RGD_ID:7243146 11680399 CYP2C8 cytochrome P450 family 2 subfamily C member 8 gene DOID:863 nervous system disease ISO RGD:1606589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 11680399 CYP2C8 cytochrome P450 family 2 subfamily C member 8 gene DOID:9000884 Rhabdomyolysis ISO RGD:1606589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15365880 11680399 CYP2C8 cytochrome P450 family 2 subfamily C member 8 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:734157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 11680399 CYP2C8 cytochrome P450 family 2 subfamily C member 8 gene DOID:9002235 Rhabdomyolysis, Cerivastatin-Induced ISO RGD:1606589 D RGD:7240710 20200923 OMIM 11680399 CYP2C8 cytochrome P450 family 2 subfamily C member 8 gene DOID:9002235 Rhabdomyolysis, Cerivastatin-Induced ISO RGD:1606589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DRUG METABOLISM, ALTERED, CYP2C8-RELATED PMID:15365880 11680399 CYP2C8 cytochrome P450 family 2 subfamily C member 8 gene DOID:9004289 Drug-Induced Leukopenia susceptibility ISO RGD:1606589 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms: DNA:polymorphism: : PMID:21702053|REF_RGD_ID:11353800 11680399 CYP2C8 cytochrome P450 family 2 subfamily C member 8 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:1606589 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms: DNA:polymorphism: : PMID:21702053|REF_RGD_ID:11353800 11680399 CYP2C8 cytochrome P450 family 2 subfamily C member 8 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1606589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27736846 11680399 CYP2C8 cytochrome P450 family 2 subfamily C member 8 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1606589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22674224 11680416 UNC93A unc-93 homolog A gene DOID:630 genetic disease ISO RGD:1343732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11680435 HCAR2 hydroxycarboxylic acid receptor 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1352808 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:21655214 11680435 HCAR2 hydroxycarboxylic acid receptor 2 gene DOID:5419 schizophrenia ISO RGD:1352808 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:18639743 11680435 HCAR2 hydroxycarboxylic acid receptor 2 gene DOID:630 genetic disease ISO RGD:1352808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11680435 HCAR2 hydroxycarboxylic acid receptor 2 gene DOID:8893 psoriasis ISO RGD:1352808 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:18722346 11680435 HCAR2 hydroxycarboxylic acid receptor 2 gene DOID:9004464 Skin Neoplasms ISO RGD:1352808 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:21655214 11680435 HCAR2 hydroxycarboxylic acid receptor 2 gene DOID:9007763 Flushing ISO RGD:1352808 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:16322797 11680440 PSMG4 proteasome assembly chaperone 4 gene DOID:630 genetic disease ISO RGD:1347146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11680449 FAM220A family with sequence similarity 220 member A gene DOID:630 genetic disease ISO RGD:1606484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11680488 DHFR dihydrofolate reductase gene DOID:0080412 familial adenomatous polyposis 4 ISO RGD:736871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 4 PMID:28492532 11680488 DHFR dihydrofolate reductase gene DOID:12450 pancytopenia ISO RGD:736871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21310276 11680488 DHFR dihydrofolate reductase gene DOID:12849 autistic disorder ISO RGD:736871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17597297 11680488 DHFR dihydrofolate reductase gene DOID:1324 lung cancer ISO RGD:736871 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:28492532 11680488 DHFR dihydrofolate reductase gene DOID:13382 megaloblastic anemia ISO RGD:736871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21310276|PMID:21310277 11680488 DHFR dihydrofolate reductase gene DOID:14026 folic acid deficiency anemia ISO RGD:736871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21310277 11680488 DHFR dihydrofolate reductase gene DOID:2871 endometrial carcinoma ISO RGD:736871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:25741868 11680488 DHFR dihydrofolate reductase gene DOID:3347 osteosarcoma ISO RGD:736871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19159907 11680488 DHFR dihydrofolate reductase gene DOID:4435 cavernous sinus meningioma ISO RGD:736871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cavernous sinus meningioma PMID:26467025|PMID:31371350|PMID:31627758 11680488 DHFR dihydrofolate reductase gene DOID:630 genetic disease ISO RGD:736871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11680488 DHFR dihydrofolate reductase gene DOID:655 inherited metabolic disorder ISO RGD:736871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21310276|PMID:21310277 11680488 DHFR dihydrofolate reductase gene DOID:684 hepatocellular carcinoma ISO RGD:736871 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:28492532 11680488 DHFR dihydrofolate reductase gene DOID:7148 rheumatoid arthritis ISO RGD:736871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 11680488 DHFR dihydrofolate reductase gene DOID:863 nervous system disease ISO RGD:736871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136|PMID:21310277 11680488 DHFR dihydrofolate reductase gene DOID:8692 myeloid leukemia ISO RGD:10471 D RGD:9068941 20200609 RGD PMID:12649191|REF_RGD_ID:11039541 11680488 DHFR dihydrofolate reductase gene DOID:9000965 Neoplasm Metastasis ISO RGD:736871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19159907 11680488 DHFR dihydrofolate reductase gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:2500 D RGD:9068941 20200609 RGD PMID:8149482|REF_RGD_ID:11040442 11680488 DHFR dihydrofolate reductase gene DOID:9003281 Spontaneous Abortions ISO RGD:736871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11680488 DHFR dihydrofolate reductase gene DOID:9003312 Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency ISO RGD:736871 D RGD:7240710 20180130 OMIM 11680488 DHFR dihydrofolate reductase gene DOID:9003312 Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency ISO RGD:736871 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: DHFR DEFICIENCY | ClinVar Annotator: match by term: Megaloblastic anemia due to dihydrofolate reductase deficiency PMID:1060915|PMID:1099447|PMID:21310276|PMID:21310277|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31371350|PMID:31627758|PMID:6700662 11680488 DHFR dihydrofolate reductase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11680488 DHFR dihydrofolate reductase gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2500 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:kidney: PMID:18408363|REF_RGD_ID:11040540 11680488 DHFR dihydrofolate reductase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 11680488 DHFR dihydrofolate reductase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736871 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:24033266|PMID:26467025|PMID:26904404|PMID:27476653|PMID:28492532|PMID:31371350|PMID:31627758|PMID:9536098 11680488 DHFR dihydrofolate reductase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736871 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:20154325|PMID:24033266|PMID:26467025|PMID:26904404|PMID:27476653|PMID:28492532|PMID:29641532|PMID:31371350|PMID:31627758|PMID:33332384|PMID:9536098 11680488 DHFR dihydrofolate reductase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19648163 11680488 DHFR dihydrofolate reductase gene DOID:9007456 Female Infertility ISO RGD:736871 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17519396 11680488 DHFR dihydrofolate reductase gene DOID:9008443 Colorectal Neoplasms ISO RGD:736871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 11680488 DHFR dihydrofolate reductase gene DOID:9008939 Breast Neoplasms ISO RGD:736871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21501481|PMID:28188287 11680488 DHFR dihydrofolate reductase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736871 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:25227144|PMID:28492532 11680488 DHFR dihydrofolate reductase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:736871 D RGD:9068941 20200609 RGD PMID:9226157|REF_RGD_ID:11039543 11680488 DHFR dihydrofolate reductase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:736871 D RGD:9068941 20200609 RGD PMID:12972803|REF_RGD_ID:11039545 11680488 DHFR dihydrofolate reductase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:736871 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:promoter: PMID:19861437|REF_RGD_ID:11039542 11680488 DHFR dihydrofolate reductase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:736871 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-317A>G, 829C>T (human) PMID:22969948|REF_RGD_ID:11039544 11680509 LOC100977118 NADH-cytochrome b5 reductase-like gene DOID:630 genetic disease ISO RGD:2302325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11680527 SLC2A10 solute carrier family 2 member 10 gene DOID:0050645 arterial tortuosity syndrome ISO RGD:1315233 D RGD:7240710 20180130 OMIM 11680527 SLC2A10 solute carrier family 2 member 10 gene DOID:0050645 arterial tortuosity syndrome ISO RGD:1315233 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Arterial tortuosity syndrome PMID:12801113|PMID:14569121|PMID:16199547|PMID:16550171|PMID:17163528|PMID:17576681|PMID:17935213|PMID:18565096|PMID:18774132|PMID:18818946|PMID:19028722|PMID:19622975|PMID:19781076|PMID:22488877|PMID:23142374|PMID:23410549|PMID:23494979|PMID:24033266|PMID:25326637|PMID:25373504|PMID:25741868|PMID:25907466|PMID:25944730|PMID:27153185|PMID:28492532|PMID:28726533|PMID:28829359|PMID:28855619|PMID:29323665|PMID:29543232|PMID:29907982|PMID:30090112|PMID:30425910|PMID:32368696|PMID:33144682|PMID:34668355|PMID:9536098 11680527 SLC2A10 solute carrier family 2 member 10 gene DOID:0060797 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism ISO RGD:1315233 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome PMID:24033266|PMID:25326637|PMID:25741868|PMID:25944730|PMID:28492532 11680527 SLC2A10 solute carrier family 2 member 10 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:1315233 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bicuspid aortic valve PMID:25741868|PMID:28492532 11680527 SLC2A10 solute carrier family 2 member 10 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1315233 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:14569121|PMID:16550171|PMID:17576681|PMID:17935213|PMID:18774132|PMID:19028722|PMID:19781076|PMID:22488877|PMID:23142374|PMID:23494979|PMID:24033266|PMID:25741868|PMID:25944730|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:29907982|PMID:30090112|PMID:33144682|PMID:34668355|PMID:9536098 11680527 SLC2A10 solute carrier family 2 member 10 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1315233 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:14569121|PMID:16550171|PMID:17576681|PMID:17935213|PMID:18774132|PMID:19028722|PMID:19781076|PMID:22488877|PMID:23142374|PMID:23494979|PMID:24033266|PMID:25326637|PMID:25741868|PMID:25944730|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:29907982|PMID:30090112|PMID:33144682|PMID:34668355|PMID:9536098 11680527 SLC2A10 solute carrier family 2 member 10 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1315233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11680527 SLC2A10 solute carrier family 2 member 10 gene DOID:2234 focal epilepsy ISO RGD:1315233 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11680527 SLC2A10 solute carrier family 2 member 10 gene DOID:630 genetic disease ISO RGD:1315233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11680527 SLC2A10 solute carrier family 2 member 10 gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:1315233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI PMID:25741868|PMID:28492532 11680527 SLC2A10 solute carrier family 2 member 10 gene DOID:9005890 Disproportionate Tall Stature ISO RGD:1315233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disproportionate tall stature 11680527 SLC2A10 solute carrier family 2 member 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1315233 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 11680527 SLC2A10 solute carrier family 2 member 10 gene DOID:9009005 Familial Thoracic Aortic Aneurysm 2 ISO RGD:1315233 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 PMID:25741868|PMID:28492532 11680536 ANK3 ankyrin 3 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:1318779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29109170 11680536 ANK3 ankyrin 3 gene DOID:0081202 autosomal recessive intellectual developmental disorder 37 ISO RGD:1318779 D RGD:7240710 20180130 OMIM 11680536 ANK3 ankyrin 3 gene DOID:0081202 autosomal recessive intellectual developmental disorder 37 ISO RGD:1318779 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability-hypotonia-spasticity-sleep disorder syndrome PMID:22865819|PMID:23390136|PMID:25741868|PMID:28492532|PMID:29302074 11680536 ANK3 ankyrin 3 gene DOID:0081227 autosomal recessive intellectual developmental disorder 66 ISO RGD:1318779 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mental retardation, autosomal recessive 66 PMID:25741868 11680536 ANK3 ankyrin 3 gene DOID:0111444 progressive myoclonus epilepsy 4 ISO RGD:1318779 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome PMID:25741868|PMID:28492532 11680536 ANK3 ankyrin 3 gene DOID:1059 intellectual disability ISO RGD:1318779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11680536 ANK3 ankyrin 3 gene DOID:12849 autistic disorder ISO RGD:1318779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:22865819|PMID:25741868 11680536 ANK3 ankyrin 3 gene DOID:1824 status epilepticus ISO RGD:1318779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19306853 11680536 ANK3 ankyrin 3 gene DOID:1824 status epilepticus ISO RGD:620157 D RGD:9068941 20200609 RGD PMID:19306853|REF_RGD_ID:6767290 11680536 ANK3 ankyrin 3 gene DOID:3312 bipolar disorder ISO RGD:1318779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711365|PMID:21926974|PMID:31043756 11680536 ANK3 ankyrin 3 gene DOID:3312 bipolar disorder susceptibility ISO RGD:1318779 D RGD:9068941 20220901 RGD DNS:SNPs:multiple:(human) PMID:33729739|REF_RGD_ID:153344594 11680536 ANK3 ankyrin 3 gene DOID:3911 progeria ISO RGD:1318779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27217151 11680536 ANK3 ankyrin 3 gene DOID:5419 schizophrenia ISO RGD:1318779 D RGD:9068941 20220901 RGD mRNA,protein:decreased expression:superior temporal gyrus PMID:21893642|REF_RGD_ID:153344576 11680536 ANK3 ankyrin 3 gene DOID:5419 schizophrenia susceptibility ISO RGD:1318779 D RGD:9068941 20220901 RGD DNA:SNP: :rs9804190(human) PMID:21893642|REF_RGD_ID:153344576 11680536 ANK3 ankyrin 3 gene DOID:630 genetic disease ISO RGD:1318779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26350204|PMID:28492532 11680536 ANK3 ankyrin 3 gene DOID:684 hepatocellular carcinoma ISO RGD:734217 D RGD:9068941 20220825 RGD protein:decreased expression:liver PMID:26652480|REF_RGD_ID:153344559 11680536 ANK3 ankyrin 3 gene DOID:9000998 Brain Injuries ISO RGD:620157 D RGD:9068941 20200609 RGD PMID:20557305|REF_RGD_ID:6767288 11680536 ANK3 ankyrin 3 gene DOID:9001234 Prenatal Exposure Delayed Effects susceptibility ISO RGD:1318779 D RGD:9068941 20220826 RGD DNA:SNP: : rs9804190(human) PMID:27824361|REF_RGD_ID:153344561 11680536 ANK3 ankyrin 3 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:620157 D RGD:9068941 20200609 RGD mRNA:decreased expression:neuron PMID:10915577|REF_RGD_ID:6767305 11680536 ANK3 ankyrin 3 gene DOID:9005172 Lung Neoplasms ISO RGD:1318779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 11680536 ANK3 ankyrin 3 gene DOID:9006534 Nervous System Malformations ISO RGD:1318779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11680536 ANK3 ankyrin 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1318779 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 11680536 ANK3 ankyrin 3 gene DOID:9008330 Serrated Polyposis ISO RGD:1318779 D RGD:9068941 20220825 RGD DNA:hypomethylation:exon,mucosa: PMID:35447336|REF_RGD_ID:153344547 11680584 KCNC3 potassium voltage-gated channel subfamily C member 3 gene DOID:0050963 spinocerebellar ataxia type 13 ISO RGD:733063 D RGD:7240710 20180130 OMIM 11680584 KCNC3 potassium voltage-gated channel subfamily C member 3 gene DOID:0050963 spinocerebellar ataxia type 13 ISO RGD:733063 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 13 PMID:10820125|PMID:16135769|PMID:16501573|PMID:18592334|PMID:19953606|PMID:20712895|PMID:21479265|PMID:21543613|PMID:22289912|PMID:22736459|PMID:22933745|PMID:23215817|PMID:23734863|PMID:23912307|PMID:24116147|PMID:25152487|PMID:25497598|PMID:25741868|PMID:25756792|PMID:25981959|PMID:26442672|PMID:26467025|PMID:28216058|PMID:28467418|PMID:28492532|PMID:30862666|PMID:32644043 11680584 KCNC3 potassium voltage-gated channel subfamily C member 3 gene DOID:630 genetic disease ISO RGD:733063 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19953606|PMID:21479265|PMID:21543613|PMID:22289912|PMID:23734863|PMID:25741868|PMID:25756792|PMID:26442672|PMID:26467025|PMID:28216058|PMID:28467418|PMID:28492532|PMID:30862666|PMID:32644043 11680591 ZFP91 ZFP91 zinc finger protein, atypical E3 ubiquitin ligase gene DOID:10534 stomach cancer ameliorates ISO RGD:1354161 D RGD:9068941 20220331 RGD PMID:31046116|REF_RGD_ID:151665744 11680591 ZFP91 ZFP91 zinc finger protein, atypical E3 ubiquitin ligase gene DOID:1059 intellectual disability ISO RGD:1354161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11680591 ZFP91 ZFP91 zinc finger protein, atypical E3 ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1354161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11680591 ZFP91 ZFP91 zinc finger protein, atypical E3 ubiquitin ligase gene DOID:9002395 Hypothermia ISO RGD:1354161 D RGD:9068941 20220707 CTD CTD Direct Evidence: therapeutic PMID:34942311 11680591 ZFP91 ZFP91 zinc finger protein, atypical E3 ubiquitin ligase gene DOID:9119 acute myeloid leukemia ISO RGD:628736 D RGD:9068941 20200609 RGD PMID:12738986|REF_RGD_ID:727221 11680606 AK5 adenylate kinase 5 gene DOID:630 genetic disease ISO RGD:1353587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11680606 AK5 adenylate kinase 5 gene DOID:670 amphetamine abuse ISO RGD:1353587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11680632 NPM3 nucleophosmin/nucleoplasmin 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1349032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11680632 NPM3 nucleophosmin/nucleoplasmin 3 gene DOID:630 genetic disease ISO RGD:1349032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11680632 NPM3 nucleophosmin/nucleoplasmin 3 gene DOID:9006205 Animal Disease Models ISO RGD:1349032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11680647 DSCAM DS cell adhesion molecule gene DOID:10485 esophageal atresia ISO RGD:732493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 11680647 DSCAM DS cell adhesion molecule gene DOID:10487 Hirschsprung's disease ISO RGD:732493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 11680647 DSCAM DS cell adhesion molecule gene DOID:1059 intellectual disability ISO RGD:732493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11680647 DSCAM DS cell adhesion molecule gene DOID:12849 autistic disorder ISO RGD:732493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11680647 DSCAM DS cell adhesion molecule gene DOID:303 substance-related disorder ISO RGD:732493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11680647 DSCAM DS cell adhesion molecule gene DOID:630 genetic disease ISO RGD:732493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28191889 11680647 DSCAM DS cell adhesion molecule gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 11680647 DSCAM DS cell adhesion molecule gene DOID:9005369 Hepatomegaly ISO RGD:732493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 11680682 SLC25A31 solute carrier family 25 member 31 gene DOID:0110722 neuronal ceroid lipofuscinosis 7 ISO RGD:1606496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 PMID:19177532|PMID:28492532 11680682 SLC25A31 solute carrier family 25 member 31 gene DOID:630 genetic disease ISO RGD:1606496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11680692 JAKMIP1 janus kinase and microtubule interacting protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1619087 D RGD:9068941 20220825 MouseDO 11680692 JAKMIP1 janus kinase and microtubule interacting protein 1 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1605275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:27799067 11680692 JAKMIP1 janus kinase and microtubule interacting protein 1 gene DOID:1059 intellectual disability ISO RGD:1605275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11680692 JAKMIP1 janus kinase and microtubule interacting protein 1 gene DOID:12849 autistic disorder ISO RGD:1605275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17519220 11680692 JAKMIP1 janus kinase and microtubule interacting protein 1 gene DOID:630 genetic disease ISO RGD:1605275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11680692 JAKMIP1 janus kinase and microtubule interacting protein 1 gene DOID:6678 tooth and nail syndrome ISO RGD:1605275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:14630905|PMID:28492532|PMID:9742121 11680723 LPP LIM domain containing preferred translocation partner in lipoma gene DOID:5419 schizophrenia ISO RGD:1321494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11680723 LPP LIM domain containing preferred translocation partner in lipoma gene DOID:630 genetic disease ISO RGD:1321494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11680723 LPP LIM domain containing preferred translocation partner in lipoma gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1321494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11680723 LPP LIM domain containing preferred translocation partner in lipoma gene DOID:9119 acute myeloid leukemia ISO RGD:1321494 D RGD:7240710 20180130 OMIM 11680723 LPP LIM domain containing preferred translocation partner in lipoma gene DOID:9119 acute myeloid leukemia ISO RGD:1321494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:25741868 11680748 LHX1 LIM homeobox 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 11680748 LHX1 LIM homeobox 1 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:732963 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 11680748 LHX1 LIM homeobox 1 gene DOID:12849 autistic disorder ISO RGD:732963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11680748 LHX1 LIM homeobox 1 gene DOID:5419 schizophrenia ISO RGD:732963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11680748 LHX1 LIM homeobox 1 gene DOID:630 genetic disease ISO RGD:732963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11680748 LHX1 LIM homeobox 1 gene DOID:9002739 Female Urogenital Diseases ISO RGD:732963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 11680748 LHX1 LIM homeobox 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11680748 LHX1 LIM homeobox 1 gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:732963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 11680757 MGAT5B alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B gene DOID:11612 polycystic ovary syndrome ISO RGD:1313067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11680757 MGAT5B alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B gene DOID:630 genetic disease ISO RGD:1313067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11680786 RAX retina and anterior neural fold homeobox gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1606797 D RGD:7240710 20180130 OMIM 11680786 RAX retina and anterior neural fold homeobox gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1606797 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19158959|PMID:19935664|PMID:20494911|PMID:21778431|PMID:22736936|PMID:24033328|PMID:25741868|PMID:26686525|PMID:28492532|PMID:30811539 11680786 RAX retina and anterior neural fold homeobox gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1606797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome 11680786 RAX retina and anterior neural fold homeobox gene DOID:0111988 immunodeficiency 12 ISO RGD:1606797 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 11680786 RAX retina and anterior neural fold homeobox gene DOID:1909 melanoma ISO RGD:1606797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 11680786 RAX retina and anterior neural fold homeobox gene DOID:630 genetic disease ISO RGD:1606797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11680786 RAX retina and anterior neural fold homeobox gene DOID:9002049 Anophthalmia ISO RGD:1606797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15789424 11680786 RAX retina and anterior neural fold homeobox gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1606797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15789424 11680792 GXYLT2 glucoside xylosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1625085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11680809 LOC100989105 signal transducer and activator of transcription 5B gene DOID:0050751 T-cell large granular lymphocyte leukemia ISO RGD:730906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916|PMID:29200404 11680809 LOC100989105 signal transducer and activator of transcription 5B gene DOID:0050861 colorectal adenocarcinoma ameliorates ISO RGD:730906 D RGD:9068941 20220812 RGD human cells in a mouse model PMID:23733954|REF_RGD_ID:11076784 11680809 LOC100989105 signal transducer and activator of transcription 5B gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:730906 D RGD:9068941 20220729 RGD protein:increased expression:colorectum (human) PMID:21826656|REF_RGD_ID:153298931 11680809 LOC100989105 signal transducer and activator of transcription 5B gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:730906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 11680809 LOC100989105 signal transducer and activator of transcription 5B gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma ISO RGD:730906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29200404 11680809 LOC100989105 signal transducer and activator of transcription 5B gene DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 ISO RGD:730906 D RGD:7240710 20180130 OMIM 11680809 LOC100989105 signal transducer and activator of transcription 5B gene DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 ISO RGD:730906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive PMID:13679528|PMID:15827093|PMID:16199547|PMID:16464942|PMID:16787985|PMID:17030597|PMID:17576681|PMID:20538865|PMID:24033266|PMID:24825865|PMID:24972766|PMID:25586472|PMID:25741868|PMID:26703237|PMID:27600764|PMID:28492532|PMID:29200404|PMID:29844444|PMID:9536098 11680809 LOC100989105 signal transducer and activator of transcription 5B gene DOID:0080837 growth hormone insensitivity syndrome with immune dysregulation 2 ISO RGD:730906 D RGD:7240710 20200910 OMIM 11680809 LOC100989105 signal transducer and activator of transcription 5B gene DOID:0080837 growth hormone insensitivity syndrome with immune dysregulation 2 ISO RGD:730906 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant PMID:25741868|PMID:28492532|PMID:29844444|PMID:31902742 11680809 LOC100989105 signal transducer and activator of transcription 5B gene DOID:0081042 T-cell prolymphocytic leukemia ISO RGD:730906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29200404 11680809 LOC100989105 signal transducer and activator of transcription 5B gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:730906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 11680809 LOC100989105 signal transducer and activator of transcription 5B gene DOID:234 colon adenocarcinoma ISO RGD:730906 D RGD:9068941 20220812 RGD DNA:SNPs:introns: (rs6503691, rs7218653) (human) PMID:22121102|REF_RGD_ID:153323313 11680809 LOC100989105 signal transducer and activator of transcription 5B gene DOID:3261 hyper IgE recurrent infection syndrome 1 ISO RGD:730906 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1 PMID:28492532 11680809 LOC100989105 signal transducer and activator of transcription 5B gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:730906 D RGD:9068941 20220729 RGD mRNA:increased expression:stomach (human) PMID:33042401|REF_RGD_ID:153298934 11680809 LOC100989105 signal transducer and activator of transcription 5B gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:730906 D RGD:9068941 20220729 RGD mRNA,protein:increased expression:lung (human) PMID:25137041|REF_RGD_ID:153298930 11680809 LOC100989105 signal transducer and activator of transcription 5B gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:730906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29200404 11680809 LOC100989105 signal transducer and activator of transcription 5B gene DOID:630 genetic disease ISO RGD:730906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11680809 LOC100989105 signal transducer and activator of transcription 5B gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:730906 D RGD:9068941 20220729 RGD mRNA:increased expression:liver (human) PMID:31485610|REF_RGD_ID:153298932 11680809 LOC100989105 signal transducer and activator of transcription 5B gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:730906 D RGD:9068941 20220729 RGD protein:increased expression:liver (human) PMID:17047057|REF_RGD_ID:153298929 11680809 LOC100989105 signal transducer and activator of transcription 5B gene DOID:9002304 Prostatic Neoplasms ISO RGD:11352 D RGD:9068941 20200609 RGD PMID:14695191|REF_RGD_ID:2291933 11680809 LOC100989105 signal transducer and activator of transcription 5B gene DOID:9002669 Hypoxia ISO RGD:3774 D RGD:9068941 20200609 RGD mRNA:increased expression:perifornical nucleus PMID:16730240|REF_RGD_ID:1601380 11680809 LOC100989105 signal transducer and activator of transcription 5B gene DOID:9002720 Splenomegaly ISO RGD:730906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29200404 11680809 LOC100989105 signal transducer and activator of transcription 5B gene DOID:9003745 Enteropathy-Associated T-Cell Lymphoma ISO RGD:730906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29200404 11680809 LOC100989105 signal transducer and activator of transcription 5B gene DOID:9004009 Reperfusion Injury ISO RGD:3774 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:17880360|REF_RGD_ID:2303397 11680809 LOC100989105 signal transducer and activator of transcription 5B gene DOID:9004713 Acute-Phase Reaction ISO RGD:3774 D RGD:9068941 20200609 RGD protein:decreased activity:liver PMID:17565389|REF_RGD_ID:2291935 11680809 LOC100989105 signal transducer and activator of transcription 5B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3774 D RGD:9068941 20200609 RGD PMID:17003334|REF_RGD_ID:2291940 11680809 LOC100989105 signal transducer and activator of transcription 5B gene DOID:9005930 Endotoxemia ISO RGD:3774 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation:liver PMID:17327369|REF_RGD_ID:1601383 11680809 LOC100989105 signal transducer and activator of transcription 5B gene DOID:9007188 Liver Neoplasms exacerbates ISO RGD:11352 D RGD:9068941 20220812 RGD B6 strain PMID:24838184|REF_RGD_ID:153298928 11680809 LOC100989105 signal transducer and activator of transcription 5B gene DOID:9008671 T-Lymphocytopenia ISO RGD:730906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17030597 11680838 P4HA1 prolyl 4-hydroxylase subunit alpha 1 gene DOID:630 genetic disease ISO RGD:731788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11680858 SLC52A2 solute carrier family 52 member 2 gene DOID:0050694 Brown-Vialetto-Van Laere syndrome ISO RGD:1349767 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11680858 SLC52A2 solute carrier family 52 member 2 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:1349767 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:24253200|PMID:25741868|PMID:27148561|PMID:28492532 11680858 SLC52A2 solute carrier family 52 member 2 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1349767 D RGD:7240710 20180130 OMIM 11680858 SLC52A2 solute carrier family 52 member 2 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1349767 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:10797435|PMID:16199547|PMID:17576681|PMID:20301336|PMID:20447487|PMID:21109228|PMID:22740598|PMID:22824638|PMID:22864630|PMID:23107375|PMID:23243084|PMID:23289980|PMID:24033266|PMID:24253200|PMID:24616084|PMID:25133958|PMID:25356970|PMID:25741868|PMID:25798182|PMID:25807286|PMID:26633542|PMID:26669662|PMID:27148561|PMID:27518768|PMID:28116953|PMID:28251916|PMID:28492532|PMID:28781516|PMID:28824526|PMID:29053833|PMID:29287867|PMID:29858556|PMID:29913018|PMID:29915382|PMID:29961509|PMID:30343981|PMID:30377535|PMID:31064337|PMID:31152317|PMID:32827528|PMID:33036493|PMID:33201363|PMID:33258288|PMID:34428344|PMID:34602496|PMID:9536098 11680858 SLC52A2 solute carrier family 52 member 2 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1349767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11680858 SLC52A2 solute carrier family 52 member 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1349767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 11680858 SLC52A2 solute carrier family 52 member 2 gene DOID:4621 holoprosencephaly ISO RGD:1349767 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11680858 SLC52A2 solute carrier family 52 member 2 gene DOID:630 genetic disease ISO RGD:1349767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10797435|PMID:22740598|PMID:22864630|PMID:23107375|PMID:24033266|PMID:24253200|PMID:24616084|PMID:25133958|PMID:25356970|PMID:25741868|PMID:25798182|PMID:25807286|PMID:26669662|PMID:27148561|PMID:27518768|PMID:28116953|PMID:28251916|PMID:28492532|PMID:28781516|PMID:29053833|PMID:29858556|PMID:29913018|PMID:29915382|PMID:29961509|PMID:30343981|PMID:30377535|PMID:31152317|PMID:33036493|PMID:33201363|PMID:33258288|PMID:34428344|PMID:34602496 11680877 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:0060041 autism spectrum disorder ISO RGD:1322469 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11680877 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1322469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11680877 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1322469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 11680877 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1322469 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11680877 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:10283 prostate cancer disease_progression ISO RGD:1322469 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:7624992|REF_RGD_ID:2315611 11680877 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:10763 hypertension ISO RGD:1311159 D RGD:9068941 20200609 RGD mRNA:decreased expression:medulla oblongata PMID:16445702|REF_RGD_ID:5509789 11680877 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:11054 urinary bladder cancer ISO RGD:1322469 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:14532840|REF_RGD_ID:2315608 11680877 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:12177 common variable immunodeficiency ISO RGD:1322469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11680877 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:1612 breast cancer disease_progression ISO RGD:1322469 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:19282568|REF_RGD_ID:2315607 11680877 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:2729 dyskeratosis congenita ISO RGD:1322469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11680877 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:37 skin disease ISO RGD:1322469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 11680877 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:4450 renal cell carcinoma ISO RGD:1322469 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:14654968|REF_RGD_ID:2315610 11680877 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:574 peripheral nervous system disease ISO RGD:1322469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 11680877 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:6000 congestive heart failure ISO RGD:1311159 D RGD:9068941 20200609 RGD PMID:15623566|REF_RGD_ID:5509787 11680877 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:630 genetic disease ISO RGD:1322469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11680877 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1322469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11680877 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:8577 ulcerative colitis ISO RGD:1322469 D RGD:9068941 20200609 RGD protein:increased expression:large intestine epithelium PMID:7679252|REF_RGD_ID:5509621 11680877 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:8778 Crohn's disease ISO RGD:1322469 D RGD:9068941 20200609 RGD protein:increased expression:large intestine epithelium PMID:7679252|REF_RGD_ID:5509621 11680877 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:8893 psoriasis ISO RGD:1322469 D RGD:9068941 20200609 RGD protein:increased expression:keratinocyte PMID:8304420|REF_RGD_ID:5509788 11680877 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:9001472 Nasal Polyps ISO RGD:1322469 D RGD:9068941 20200609 RGD mRNA:decreased expression:nasal cavity epithelium PMID:20554417|REF_RGD_ID:5509597 11680877 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:9001542 Albuminuria ISO RGD:1322469 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphism:cds:p.R261Q (human) PMID:18640486|REF_RGD_ID:2313875 11680877 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:9002211 Hyperalgesia ISO RGD:1322469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12582831 11680877 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:9003730 Chemical Burns ISO RGD:1322469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 11680877 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:9004009 Reperfusion Injury ISO RGD:1311159 D RGD:9068941 20200609 RGD PMID:15518705|REF_RGD_ID:5509617 11680877 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:9004207 Testicular Neoplasms ISO RGD:1322469 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:14767568|REF_RGD_ID:2315609 11680877 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:9005172 Lung Neoplasms ISO RGD:1322470 D RGD:9068941 20200609 RGD PMID:7511046|REF_RGD_ID:2313872 11680877 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:9006182 Carotid Artery Injuries ISO RGD:1311159 D RGD:9068941 20200609 RGD PMID:16118253|REF_RGD_ID:5509614 11680877 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:9007482 Bone Metastasis ISO RGD:1322469 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms; PMID:14669797|REF_RGD_ID:1578303 11680877 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:9352 type 2 diabetes mellitus ISO RGD:1322469 D RGD:9068941 20200609 RGD protein:decreased activity:platelet (human) PMID:9500559|REF_RGD_ID:2313877 11680877 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:9970 obesity ISO RGD:1311159 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue, fat cell PMID:20978234|REF_RGD_ID:5509594 11680877 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:9970 obesity ISO RGD:1322470 D RGD:9068941 20200609 RGD PMID:18780776|REF_RGD_ID:5509628 11680900 DCST2 DC-STAMP domain containing 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11680900 DCST2 DC-STAMP domain containing 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11680900 DCST2 DC-STAMP domain containing 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11680900 DCST2 DC-STAMP domain containing 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11680900 DCST2 DC-STAMP domain containing 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1606730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11680900 DCST2 DC-STAMP domain containing 2 gene DOID:5812 MHC class II deficiency ISO RGD:1606730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11680900 DCST2 DC-STAMP domain containing 2 gene DOID:630 genetic disease ISO RGD:1606730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11680900 DCST2 DC-STAMP domain containing 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11680918 SCUBE2 signal peptide, CUB domain and EGF like domain containing 2 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1352842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 11680918 SCUBE2 signal peptide, CUB domain and EGF like domain containing 2 gene DOID:630 genetic disease ISO RGD:1352842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11680946 DCHS2 dachsous cadherin-related 2 gene DOID:10283 prostate cancer ISO RGD:1603301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11680946 DCHS2 dachsous cadherin-related 2 gene DOID:630 genetic disease ISO RGD:1603301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11680974 SPPL3 signal peptide peptidase like 3 gene DOID:630 genetic disease ISO RGD:1605007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11680994 CRB1 crumbs cell polarity complex component 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:1320564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868|PMID:28492532 11680994 CRB1 crumbs cell polarity complex component 1 gene DOID:0050662 bestrophinopathy ISO RGD:1320564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy PMID:17128490|PMID:17297678|PMID:23379534|PMID:24033266|PMID:25474345|PMID:25741868|PMID:27096895|PMID:27258436|PMID:27628848|PMID:28041643|PMID:28181551|PMID:28492532|PMID:28819299|PMID:29391521|PMID:33546218 11680994 CRB1 crumbs cell polarity complex component 1 gene DOID:0050817 Stargardt disease ISO RGD:1320564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:10508521|PMID:22065545|PMID:23379534|PMID:25412400|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521 11680994 CRB1 crumbs cell polarity complex component 1 gene DOID:0060869 late-onset retinal degeneration ISO RGD:1320565 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.C249W (mouse) PMID:17234588|REF_RGD_ID:8552692 11680994 CRB1 crumbs cell polarity complex component 1 gene DOID:0110016 Leber congenital amaurosis 2 ISO RGD:1320564 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset retinal dystrophy PMID:10508521|PMID:15024725|PMID:16543197|PMID:17724218|PMID:17964524|PMID:19140180|PMID:22065545|PMID:23379534|PMID:23449718|PMID:25133751|PMID:25323024|PMID:25412400|PMID:25741868|PMID:26147992|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521|PMID:31456290|PMID:31896775|PMID:32295525|PMID:33342761|PMID:33546218 11680994 CRB1 crumbs cell polarity complex component 1 gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:1320564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER I | ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:10508521|PMID:11231775|PMID:12700176|PMID:12843338|PMID:15459956|PMID:16272259|PMID:17128490|PMID:17297678|PMID:18055816|PMID:19401883|PMID:20079931|PMID:20956273|PMID:22065545|PMID:23379534|PMID:23847139|PMID:24033266|PMID:24512366|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26312378|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27258436|PMID:27628848|PMID:28005958|PMID:28041643|PMID:28181551|PMID:28492532|PMID:28714225|PMID:28800606|PMID:28819299|PMID:29178642|PMID:29186038|PMID:29391521|PMID:30718709|PMID:31736247|PMID:32865313|PMID:33546218 11680994 CRB1 crumbs cell polarity complex component 1 gene DOID:0110079 Leber congenital amaurosis 8 ISO RGD:1320564 D RGD:7240710 20180130 OMIM 11680994 CRB1 crumbs cell polarity complex component 1 gene DOID:0110079 Leber congenital amaurosis 8 ISO RGD:1320564 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 8 PMID:10508521|PMID:11231775|PMID:11389483|PMID:12567265|PMID:12700176|PMID:12843338|PMID:1389483|PMID:1427914|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16505055|PMID:16543197|PMID:17128490|PMID:17297678|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18682808|PMID:19140180|PMID:19339744|PMID:19401883|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22219627|PMID:22277662|PMID:22968130|PMID:23077403|PMID:23105016|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:23592920|PMID:23661368|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25133751|PMID:25323024|PMID:25326637|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26047050|PMID:26147992|PMID:26312378|PMID:26667666|PMID:26872607|PMID:26914788|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27258436|PMID:27353947|PMID:27375279|PMID:27380427|PMID:27628848|PMID:27806333|PMID:27884173|PMID:28005958|PMID:28041643|PMID:28129017|PMID:28181551|PMID:28341475|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28714225|PMID:28800606|PMID:28819299|PMID:2906847|PMID:29068479|PMID:29178642|PMID:29391521|PMID:29641573|PMID:30029497|PMID:30543658|PMID:30576320|PMID:30718709|PMID:31456290|PMID:31630094|PMID:31736247|PMID:31896775|PMID:32295525|PMID:32581362|PMID:33090715|PMID:33342761|PMID:33546218|PMID:36115989|PMID:9536098 11680994 CRB1 crumbs cell polarity complex component 1 gene DOID:0110358 retinitis pigmentosa 12 ISO RGD:1320564 D RGD:7240710 20180130 OMIM 11680994 CRB1 crumbs cell polarity complex component 1 gene DOID:0110358 retinitis pigmentosa 12 ISO RGD:1320564 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: RETINITIS PIGMENTOSA WITH OR WITHOUT PARAARTERIOLAR PRESERVATION OF RETINAL PIGMENT EPITHELIUM | ClinVar Annotator: match by term: Retinitis pigmentosa 12 PMID:10508521|PMID:11231775|PMID:11389483|PMID:12567265|PMID:12573663|PMID:12700176|PMID:12843338|PMID:1389483|PMID:1427914|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16505055|PMID:16543197|PMID:16936081|PMID:17128490|PMID:17297678|PMID:17525851|PMID:17576681|PMID:17660513|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18055820|PMID:18055821|PMID:18682808|PMID:19140180|PMID:19339744|PMID:19401883|PMID:19763152|PMID:19956407|PMID:20065226|PMID:20079931|PMID:20301475|PMID:20307669|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21484995|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22128245|PMID:22164218|PMID:22219627|PMID:22334370|PMID:22406018|PMID:22968130|PMID:23077403|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:23592920|PMID:23661368|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24618324|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25133751|PMID:25323024|PMID:25326637|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25474345|PMID:25611614|PMID:25640679|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26147992|PMID:26312378|PMID:26355662|PMID:26626312|PMID:26667666|PMID:26766544|PMID:26872607|PMID:26914788|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27208204|PMID:27258436|PMID:27353947|PMID:27380427|PMID:27628848|PMID:27670293|PMID:27806333|PMID:27884173|PMID:28005958|PMID:28041643|PMID:28129017|PMID:28157192|PMID:28181551|PMID:28341475|PMID:28341476|PMID:28460491|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28714225|PMID:28800606|PMID:28819299|PMID:28912962|PMID:29053603|PMID:2906847|PMID:29068479|PMID:29074561|PMID:29178642|PMID:29186038|PMID:29200130|PMID:29391521|PMID:29641573|PMID:29844330|PMID:30029497|PMID:30543658|PMID:30576320|PMID:30608181|PMID:30718709|PMID:30902645|PMID:31054281|PMID:31103025|PMID:31106028|PMID:31322236|PMID:31456290|PMID:31630094|PMID:31736247|PMID:31896775|PMID:32037395|PMID:32141364|PMID:32581362|PMID:32865313|PMID:32901921|PMID:33090715|PMID:33342761|PMID:33546218|PMID:33576794|PMID:33633436|PMID:33921607|PMID:33946315|PMID:8069649|PMID:9536098 11680994 CRB1 crumbs cell polarity complex component 1 gene DOID:0111541 pigmented paravenous chorioretinal atrophy ISO RGD:1320564 D RGD:7240710 20180130 OMIM 11680994 CRB1 crumbs cell polarity complex component 1 gene DOID:0111541 pigmented paravenous chorioretinal atrophy ISO RGD:1320564 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophy PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:1389483|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16199547|PMID:16272259|PMID:17576681|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20956273|PMID:21602930|PMID:22065545|PMID:22219627|PMID:22968130|PMID:23105016|PMID:23379534|PMID:23449718|PMID:23591405|PMID:23592920|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24715753|PMID:24811962|PMID:25097241|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26047050|PMID:26312378|PMID:26914788|PMID:26957898|PMID:27096895|PMID:27113771|PMID:28005958|PMID:28041643|PMID:28129017|PMID:28341475|PMID:28492532|PMID:28559085|PMID:28714225|PMID:28800606|PMID:28819299|PMID:29178642|PMID:29391521|PMID:30029497|PMID:30718709|PMID:31630094|PMID:31736247|PMID:32581362|PMID:33090715|PMID:33342761|PMID:33546218|PMID:9536098 11680994 CRB1 crumbs cell polarity complex component 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16272259|PMID:17576681|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:19956407|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26957898|PMID:27113771|PMID:28041643|PMID:28129017|PMID:28341475|PMID:28492532|PMID:28800606|PMID:29178642|PMID:29200130|PMID:29391521|PMID:30029497|PMID:30718709|PMID:31456290|PMID:33546218|PMID:9536098 11680994 CRB1 crumbs cell polarity complex component 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320564 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16272259|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:19956407|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24715753|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26957898|PMID:27113771|PMID:27157150|PMID:28041643|PMID:28129017|PMID:28341475|PMID:28492532|PMID:28800606|PMID:29178642|PMID:29200130|PMID:29391521|PMID:30718709|PMID:31456290|PMID:33546218 11680994 CRB1 crumbs cell polarity complex component 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16272259|PMID:17576681|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:19956407|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23077403|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26957898|PMID:27113771|PMID:27157150|PMID:27380427|PMID:28041643|PMID:28129017|PMID:28341475|PMID:28492532|PMID:28800606|PMID:29074561|PMID:29178642|PMID:29200130|PMID:29391521|PMID:30029497|PMID:30543658|PMID:30718709|PMID:31456290|PMID:32581362|PMID:33090715|PMID:33546218|PMID:9536098 11680994 CRB1 crumbs cell polarity complex component 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320564 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16272259|PMID:17576681|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:19956407|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23077403|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26957898|PMID:27113771|PMID:27157150|PMID:27380427|PMID:28041643|PMID:28129017|PMID:28341475|PMID:28492532|PMID:28800606|PMID:29074561|PMID:29178642|PMID:29200130|PMID:29391521|PMID:30029497|PMID:30543658|PMID:30718709|PMID:31456290|PMID:32165824|PMID:32581362|PMID:33090715|PMID:33546218|PMID:9536098 11680994 CRB1 crumbs cell polarity complex component 1 gene DOID:10584 retinitis pigmentosa susceptibility ISO RGD:1320564 D RGD:9068941 20200609 RGD DNA:missense mutations PMID:10508521|REF_RGD_ID:1600966 11680994 CRB1 crumbs cell polarity complex component 1 gene DOID:1059 intellectual disability ISO RGD:1320564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:11231775|PMID:12843338|PMID:15024725|PMID:15459956|PMID:16272259|PMID:18055816|PMID:20079931|PMID:20591486|PMID:22164218|PMID:25741868|PMID:28492532|PMID:30718709 11680994 CRB1 crumbs cell polarity complex component 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1320564 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital retinal blindness | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease | ClinVar Annotator: match by term: Retinal blindness, congenital PMID:10508521|PMID:11231775|PMID:11389483|PMID:12567265|PMID:12843338|PMID:1389483|PMID:15024725|PMID:15459956|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16543197|PMID:17128490|PMID:17297678|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18682808|PMID:19140180|PMID:19401883|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23105016|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:23592920|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24715753|PMID:24938718|PMID:25133751|PMID:25323024|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26147992|PMID:26667666|PMID:26872607|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27208204|PMID:27258436|PMID:27628848|PMID:28005958|PMID:28041643|PMID:28181551|PMID:28341475|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28714225|PMID:28800606|PMID:28819299|PMID:29178642|PMID:29186038|PMID:29391521|PMID:30576320|PMID:30718709|PMID:31456290|PMID:31896775|PMID:32141364|PMID:33342761|PMID:33546218|PMID:33576794 11680994 CRB1 crumbs cell polarity complex component 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1320564 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital retinal blindness | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital PMID:10508521|PMID:11231775|PMID:11389483|PMID:12567265|PMID:12843338|PMID:1389483|PMID:15024725|PMID:15459956|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16543197|PMID:17128490|PMID:17297678|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18682808|PMID:19140180|PMID:19401883|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23105016|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:23592920|PMID:23661368|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24938718|PMID:25133751|PMID:25323024|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26147992|PMID:26312378|PMID:26667666|PMID:26872607|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27208204|PMID:27258436|PMID:27628848|PMID:27806333|PMID:28005958|PMID:28041643|PMID:28181551|PMID:28341475|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28714225|PMID:28800606|PMID:28819299|PMID:29068479|PMID:29178642|PMID:29391521|PMID:29641573|PMID:30029497|PMID:30576320|PMID:30718709|PMID:31456290|PMID:31736247|PMID:31896775|PMID:32141364|PMID:32581362|PMID:32865313|PMID:33090715|PMID:33342761|PMID:33546218|PMID:33576794|PMID:33921607|PMID:9536098 11680994 CRB1 crumbs cell polarity complex component 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1320564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11680994 CRB1 crumbs cell polarity complex component 1 gene DOID:4448 macular degeneration ISO RGD:1320564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:10508521|PMID:11389483|PMID:12700176|PMID:15024725|PMID:15459956|PMID:17128490|PMID:17297678|PMID:20683928|PMID:20956273|PMID:22065545|PMID:23379534|PMID:24033266|PMID:24512366|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26047050|PMID:26914788|PMID:26957898|PMID:27096895|PMID:27258436|PMID:27628848|PMID:28041643|PMID:28129017|PMID:28181551|PMID:28341475|PMID:28492532|PMID:28819299|PMID:29391521|PMID:30718709|PMID:33546218 11680994 CRB1 crumbs cell polarity complex component 1 gene DOID:5327 retinal detachment ISO RGD:1320564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11389483 11680994 CRB1 crumbs cell polarity complex component 1 gene DOID:5419 schizophrenia ISO RGD:1320564 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11680994 CRB1 crumbs cell polarity complex component 1 gene DOID:630 genetic disease ISO RGD:1320564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10508521|PMID:17964524|PMID:22065545|PMID:23379534|PMID:25412400|PMID:25741868|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521 11680994 CRB1 crumbs cell polarity complex component 1 gene DOID:7736 retinal telangiectasia ISO RGD:1320564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11389483 11680994 CRB1 crumbs cell polarity complex component 1 gene DOID:8501 fundus dystrophy ISO RGD:1320564 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:1427914|PMID:15024725|PMID:15459956|PMID:16199547|PMID:16543197|PMID:17128490|PMID:17297678|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18055820|PMID:18682808|PMID:19140180|PMID:19401883|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21484995|PMID:21757580|PMID:22065545|PMID:22968130|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:25133751|PMID:25323024|PMID:25356976|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26047050|PMID:26147992|PMID:26312378|PMID:26667666|PMID:26914788|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27208204|PMID:27258436|PMID:27353947|PMID:27380427|PMID:27628848|PMID:28041643|PMID:28129017|PMID:28181551|PMID:28341475|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28800606|PMID:28819299|PMID:28912962|PMID:29068479|PMID:29178642|PMID:29200130|PMID:29391521|PMID:30543658|PMID:30576320|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31736247|PMID:31896775|PMID:32581362|PMID:33342761|PMID:33546218|PMID:33576794|PMID:33633436|PMID:9536098 11680994 CRB1 crumbs cell polarity complex component 1 gene DOID:9006597 Retinal Dysplasia treatment ISO RGD:1320565 D RGD:9068941 20200609 RGD PMID:24346171|REF_RGD_ID:8552698 11680994 CRB1 crumbs cell polarity complex component 1 gene DOID:9007488 Idiopathic Juxtafoveal Retinal Telangiectasia ISO RGD:1309947 D RGD:9068941 20200609 RGD PMID:25878282|REF_RGD_ID:13451131 11680994 CRB1 crumbs cell polarity complex component 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1320564 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868 11680994 CRB1 crumbs cell polarity complex component 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11681021 PRSS55 serine protease 55 gene DOID:630 genetic disease ISO RGD:1603165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11681021 PRSS55 serine protease 55 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11681022 HGH1 HGH1 homolog gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1602718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11681022 HGH1 HGH1 homolog gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1602718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11681022 HGH1 HGH1 homolog gene DOID:4621 holoprosencephaly ISO RGD:1602718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11681022 HGH1 HGH1 homolog gene DOID:630 genetic disease ISO RGD:1602718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11681032 SHH sonic hedgehog signaling molecule gene DOID:0050651 atrioventricular septal defect ISO RGD:736830 D RGD:9068941 20200609 RGD PMID:19538633|REF_RGD_ID:12801428 11681032 SHH sonic hedgehog signaling molecule gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:736829 D RGD:9068941 20200609 RGD PMID:12926841|REF_RGD_ID:12801414 11681032 SHH sonic hedgehog signaling molecule gene DOID:0060041 autism spectrum disorder ISO RGD:736829 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:26691363|REF_RGD_ID:11561296 11681032 SHH sonic hedgehog signaling molecule gene DOID:0060041 autism spectrum disorder severity ISO RGD:736829 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21984201|REF_RGD_ID:12801412 11681032 SHH sonic hedgehog signaling molecule gene DOID:0060071 pre-malignant neoplasm ISO RGD:3673 D RGD:9068941 20211105 RGD PMID:30537251|REF_RGD_ID:150520178 11681032 SHH sonic hedgehog signaling molecule gene DOID:0060857 septooptic dysplasia ISO RGD:736829 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence PMID:25741868|PMID:35885948 11681032 SHH sonic hedgehog signaling molecule gene DOID:0080171 esophageal atresia/tracheoesophageal fistula ISO RGD:3673 D RGD:9068941 20200609 RGD PMID:25003913|REF_RGD_ID:12801416 11681032 SHH sonic hedgehog signaling molecule gene DOID:0080855 Parkinsonism treatment ISO RGD:3673 D RGD:9068941 20200609 RGD PMID:25030123|REF_RGD_ID:12859032 11681032 SHH sonic hedgehog signaling molecule gene DOID:0110875 holoprosencephaly 3 ISO RGD:736829 D RGD:7240710 20180130 OMIM 11681032 SHH sonic hedgehog signaling molecule gene DOID:0110875 holoprosencephaly 3 ISO RGD:736829 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10479723|PMID:10556296|PMID:10631160|PMID:10749657|PMID:11471164|PMID:11479728|PMID:11857543|PMID:11919111|PMID:12503095|PMID:12567406|PMID:12709790|PMID:15107988|PMID:15292211|PMID:15942944|PMID:15942952|PMID:16199547|PMID:16254195|PMID:16282375|PMID:18655123|PMID:19057928|PMID:19478089|PMID:19533790|PMID:19561609|PMID:19603532|PMID:19920144|PMID:20157829|PMID:20425842|PMID:21416594|PMID:21940735|PMID:21976454|PMID:22354285|PMID:22683912|PMID:22791840|PMID:22859937|PMID:22897141|PMID:23370340|PMID:23476075|PMID:24033266|PMID:24095820|PMID:25569381|PMID:25741868|PMID:26467025|PMID:28127823|PMID:28284480|PMID:28492532|PMID:28518168|PMID:28588853|PMID:29205322|PMID:29983323|PMID:29992659|PMID:31334757|PMID:32022405|PMID:32461654|PMID:32677110|PMID:32939873|PMID:8896572|PMID:9302262|PMID:9600232 11681032 SHH sonic hedgehog signaling molecule gene DOID:0110964 brachydactyly type A1 ISO RGD:736830 D RGD:9068941 20200609 RGD PMID:15841179|REF_RGD_ID:12798572 11681032 SHH sonic hedgehog signaling molecule gene DOID:0111380 solitary median maxillary central incisor ISO RGD:736829 D RGD:7240710 20180130 OMIM 11681032 SHH sonic hedgehog signaling molecule gene DOID:0111380 solitary median maxillary central incisor ISO RGD:736829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome PMID:11471164|PMID:12567406|PMID:15103725|PMID:15292211|PMID:25741868|PMID:28492532|PMID:32939873|PMID:9302262 11681032 SHH sonic hedgehog signaling molecule gene DOID:0111564 hypoplastic or aplastic tibia with polydactyly ISO RGD:736829 D RGD:9068941 20200609 RGD DNA:point mutations:enhancer:404G>A, 404G>C (human) PMID:19847792|REF_RGD_ID:12801438 11681032 SHH sonic hedgehog signaling molecule gene DOID:0111818 syndactyly type 4 ISO RGD:736829 D RGD:9068941 20200609 RGD DNA:duplication:enhancer PMID:18417549|REF_RGD_ID:12801418 11681032 SHH sonic hedgehog signaling molecule gene DOID:10487 Hirschsprung's disease ISO RGD:736829 D RGD:9068941 20200609 RGD PMID:20972907|REF_RGD_ID:12801434 11681032 SHH sonic hedgehog signaling molecule gene DOID:10534 stomach cancer disease_progression ISO RGD:736829 D RGD:9068941 20211126 RGD PMID:22456124|REF_RGD_ID:150523844 11681032 SHH sonic hedgehog signaling molecule gene DOID:10629 microphthalmia ISO RGD:736829 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:31690747|PMID:32472575 11681032 SHH sonic hedgehog signaling molecule gene DOID:10976 membranous glomerulonephritis ISO RGD:736829 D RGD:9068941 20200609 RGD PMID:24744439|REF_RGD_ID:12859042 11681032 SHH sonic hedgehog signaling molecule gene DOID:1148 polydactyly ISO RGD:736829 D RGD:9068941 20200609 RGD DNA:point mutation:enhancer:g.106954C>T (human) PMID:22903933|REF_RGD_ID:12801449 11681032 SHH sonic hedgehog signaling molecule gene DOID:1148 polydactyly ISO RGD:736830 D RGD:9068941 20200609 RGD PMID:10021368|PMID:14597572|REF_RGD_ID:12801421|REF_RGD_ID:12801429 11681032 SHH sonic hedgehog signaling molecule gene DOID:12849 autistic disorder ISO RGD:736829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11681032 SHH sonic hedgehog signaling molecule gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:736829 D RGD:9068941 20200609 RGD PMID:24744439|REF_RGD_ID:12859042 11681032 SHH sonic hedgehog signaling molecule gene DOID:13548 secondary Parkinson disease ISO RGD:736829 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11771942 11681032 SHH sonic hedgehog signaling molecule gene DOID:13608 biliary atresia disease_progression ISO RGD:736829 D RGD:9068941 20200609 RGD PMID:25746691|REF_RGD_ID:12802349 11681032 SHH sonic hedgehog signaling molecule gene DOID:1459 hypothyroidism ISO RGD:3673 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebellum PMID:18827446|REF_RGD_ID:2306294 11681032 SHH sonic hedgehog signaling molecule gene DOID:14679 VACTERL association ISO RGD:3673 D RGD:9068941 20200609 RGD PMID:12632369|REF_RGD_ID:12801426 11681032 SHH sonic hedgehog signaling molecule gene DOID:2377 multiple sclerosis ISO RGD:736829 D RGD:9068941 20200609 RGD PMID:18991353|REF_RGD_ID:12801440 11681032 SHH sonic hedgehog signaling molecule gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:736830 D RGD:9068941 20200609 RGD PMID:9115210|REF_RGD_ID:12802345 11681032 SHH sonic hedgehog signaling molecule gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:736830 D RGD:9068941 20220915 MouseDO OMIM:109400 11681032 SHH sonic hedgehog signaling molecule gene DOID:2513 basal cell carcinoma ISO RGD:736829 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:skin of body PMID:23284750|REF_RGD_ID:12801452 11681032 SHH sonic hedgehog signaling molecule gene DOID:2986 IgA glomerulonephritis ISO RGD:736829 D RGD:9068941 20200609 RGD PMID:24744439|REF_RGD_ID:12859042 11681032 SHH sonic hedgehog signaling molecule gene DOID:3213 demyelinating disease treatment ISO RGD:736830 D RGD:9068941 20200609 RGD PMID:15128833|REF_RGD_ID:12801445 11681032 SHH sonic hedgehog signaling molecule gene DOID:3328 temporal lobe epilepsy ISO RGD:3673 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, temporal cortex PMID:21376786|REF_RGD_ID:12859046 11681032 SHH sonic hedgehog signaling molecule gene DOID:3328 temporal lobe epilepsy ISO RGD:736829 D RGD:9068941 20200609 RGD protein:increased expression:temporal cortex PMID:21376786|REF_RGD_ID:12859046 11681032 SHH sonic hedgehog signaling molecule gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:736829 D RGD:9068941 20200609 RGD PMID:22324418|REF_RGD_ID:12879461 11681032 SHH sonic hedgehog signaling molecule gene DOID:4621 holoprosencephaly ISO RGD:736829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:29584859 11681032 SHH sonic hedgehog signaling molecule gene DOID:4621 holoprosencephaly treatment ISO RGD:736830 D RGD:9068941 20200609 RGD PMID:18338389|REF_RGD_ID:12801437 11681032 SHH sonic hedgehog signaling molecule gene DOID:5199 ureteral obstruction ISO RGD:736830 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:nephron tubule epithelium PMID:22302193|REF_RGD_ID:12859047 11681032 SHH sonic hedgehog signaling molecule gene DOID:5844 myocardial infarction treatment ISO RGD:3673 D RGD:9068941 20200609 RGD PMID:20052412|REF_RGD_ID:12879408 11681032 SHH sonic hedgehog signaling molecule gene DOID:630 genetic disease ISO RGD:736829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11479728|PMID:15292211|PMID:19603532|PMID:23476075|PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654 11681032 SHH sonic hedgehog signaling molecule gene DOID:674 cleft palate ISO RGD:733158 D RGD:9068941 20200609 RGD PMID:17097601|REF_RGD_ID:12801424 11681032 SHH sonic hedgehog signaling molecule gene DOID:684 hepatocellular carcinoma ISO RGD:736829 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26189965 11681032 SHH sonic hedgehog signaling molecule gene DOID:784 chronic kidney disease ISO RGD:3673 D RGD:9068941 20200609 RGD PMID:24744439|REF_RGD_ID:12859042 11681032 SHH sonic hedgehog signaling molecule gene DOID:784 chronic kidney disease ISO RGD:736830 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:24744439|REF_RGD_ID:12859042 11681032 SHH sonic hedgehog signaling molecule gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:3673 D RGD:9068941 20200609 RGD PMID:24837681|REF_RGD_ID:12879409 11681032 SHH sonic hedgehog signaling molecule gene DOID:9000392 Fluoride Poisoning ISO RGD:3673 D RGD:9068941 20200609 RGD PMID:25623978|REF_RGD_ID:12879410 11681032 SHH sonic hedgehog signaling molecule gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:3673 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:23933201|REF_RGD_ID:12859044 11681032 SHH sonic hedgehog signaling molecule gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:3673 D RGD:9068941 20200609 RGD PMID:22994531|REF_RGD_ID:12879407 11681032 SHH sonic hedgehog signaling molecule gene DOID:9001276 Failure to Thrive ISO RGD:736829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868 11681032 SHH sonic hedgehog signaling molecule gene DOID:9001471 Anorectal Malformations ISO RGD:3673 D RGD:9068941 20200609 RGD mRNA:decreased expression:hindgut PMID:17161201|REF_RGD_ID:1599527 11681032 SHH sonic hedgehog signaling molecule gene DOID:9001471 Anorectal Malformations ISO RGD:736829 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, rectum PMID:25148746|REF_RGD_ID:12798569 11681032 SHH sonic hedgehog signaling molecule gene DOID:9001471 Anorectal Malformations severity ISO RGD:736829 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:rectum PMID:20146882|REF_RGD_ID:12798571 11681032 SHH sonic hedgehog signaling molecule gene DOID:9002457 Experimental Arthritis treatment ISO RGD:3673 D RGD:9068941 20200609 RGD PMID:25821409|REF_RGD_ID:12879456 11681032 SHH sonic hedgehog signaling molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3673 D RGD:9068941 20200609 RGD PMID:15892298|REF_RGD_ID:12801423 11681032 SHH sonic hedgehog signaling molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:736830 D RGD:9068941 20200609 RGD PMID:18991353|REF_RGD_ID:12801440 11681032 SHH sonic hedgehog signaling molecule gene DOID:9002811 Facial Dysmorphism with Multiple Malformations ISO RGD:736829 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27585885 11681032 SHH sonic hedgehog signaling molecule gene DOID:9003769 Patterson Stevenson Syndrome ISO RGD:736829 D RGD:9068941 20200609 RGD DNA:duplication:enhancer PMID:18417549|REF_RGD_ID:12801418 11681032 SHH sonic hedgehog signaling molecule gene DOID:9004237 Hyperoxic Lung Injury ISO RGD:3673 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:22641469|REF_RGD_ID:12859031 11681032 SHH sonic hedgehog signaling molecule gene DOID:9004387 Isolated Microphthalmia with Coloboma 5 ISO RGD:736829 D RGD:7240710 20180130 OMIM 11681032 SHH sonic hedgehog signaling molecule gene DOID:9004387 Isolated Microphthalmia with Coloboma 5 ISO RGD:736829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 5 PMID:10556296|PMID:12503095|PMID:15292211|PMID:18414213|PMID:20425842|PMID:25741868|PMID:28492532|PMID:32939873|PMID:9302262 11681032 SHH sonic hedgehog signaling molecule gene DOID:9005351 Persistent Cloaca ISO RGD:736829 D RGD:9068941 20200609 RGD PMID:24524909|REF_RGD_ID:12801442 11681032 SHH sonic hedgehog signaling molecule gene DOID:9005351 Persistent Cloaca ISO RGD:736830 D RGD:9068941 20200609 RGD PMID:24524909|REF_RGD_ID:12801442 11681032 SHH sonic hedgehog signaling molecule gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:736830 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:24744439|REF_RGD_ID:12859042 11681032 SHH sonic hedgehog signaling molecule gene DOID:9006294 Congenital Limb Deformities ISO RGD:736830 D RGD:9068941 20200609 RGD PMID:15677727|REF_RGD_ID:12801441 11681032 SHH sonic hedgehog signaling molecule gene DOID:9006637 Schizencephaly ISO RGD:736829 D RGD:7240710 20190327 OMIM 11681032 SHH sonic hedgehog signaling molecule gene DOID:9006637 Schizencephaly ISO RGD:736829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Schizencephaly PMID:10556296|PMID:12709790|PMID:15292211|PMID:18655123|PMID:19533790|PMID:19603532|PMID:19920144|PMID:20157829|PMID:20425842|PMID:21416594|PMID:25741868|PMID:26467025|PMID:28127823|PMID:28492532|PMID:32939873|PMID:9302262 11681032 SHH sonic hedgehog signaling molecule gene DOID:9007462 Partial Agenesis of Corpus Callosum ISO RGD:736829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Partial agenesis of the corpus callosum 11681032 SHH sonic hedgehog signaling molecule gene DOID:9007798 Preaxial Polydactyly II ISO RGD:736829 D RGD:9068941 20200609 RGD PMID:18463159|PMID:20569257|REF_RGD_ID:12801447|REF_RGD_ID:12801448 11681032 SHH sonic hedgehog signaling molecule gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3673 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:18228117|REF_RGD_ID:2306299 11681032 SHH sonic hedgehog signaling molecule gene DOID:9008296 Eye Abnormalities ISO RGD:736829 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24973920 11681032 SHH sonic hedgehog signaling molecule gene DOID:9009097 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies ISO RGD:736829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies PMID:15292211|PMID:22897141|PMID:25741868|PMID:28492532|PMID:29205322|PMID:9302262 11681032 SHH sonic hedgehog signaling molecule gene DOID:9250 acrocallosal syndrome ISO RGD:736829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acrocallosal syndrome PMID:25741868|PMID:29321670 11681032 SHH sonic hedgehog signaling molecule gene DOID:9253 gastrointestinal stromal tumor disease_progression ISO RGD:736829 D RGD:9068941 20211105 RGD PMID:17007023|REF_RGD_ID:150520173 11681032 SHH sonic hedgehog signaling molecule gene DOID:9256 colorectal cancer ISO RGD:736829 D RGD:9068941 20211105 RGD PMID:22901214|REF_RGD_ID:150520174 11681032 SHH sonic hedgehog signaling molecule gene DOID:9282 ocular hypertension ISO RGD:3673 D RGD:9068941 20200609 RGD PMID:20071678|REF_RGD_ID:2324982 11681065 TIGD1 tigger transposable element derived 1 gene DOID:0060476 Perlman syndrome ISO RGD:1344912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11681065 TIGD1 tigger transposable element derived 1 gene DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B ISO RGD:1344912 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome PMID:16826520|PMID:25741868|PMID:28492532|PMID:31354645 11681065 TIGD1 tigger transposable element derived 1 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1344912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11681065 TIGD1 tigger transposable element derived 1 gene DOID:630 genetic disease ISO RGD:1344912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11681065 TIGD1 tigger transposable element derived 1 gene DOID:9005962 Multiple Pterygium Syndrome, Lethal Type ISO RGD:1344912 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:25741868|PMID:28492532 11681084 RC3H2 ring finger and CCCH-type domains 2 gene DOID:630 genetic disease ISO RGD:1312502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11681124 MTAP methylthioadenosine phosphorylase gene DOID:0050625 biliary tract benign neoplasm ISO RGD:1320830 D RGD:9068941 20200609 RGD PMID:16373701|REF_RGD_ID:2317953 11681124 MTAP methylthioadenosine phosphorylase gene DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma ISO RGD:1320830 D RGD:7240710 20180130 OMIM 11681124 MTAP methylthioadenosine phosphorylase gene DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma ISO RGD:1320830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone dysplasia with malignant fibrous histiocytoma | ClinVar Annotator: match by term: Bone dysplasia with medullary fibrosarcoma | ClinVar Annotator: match by term: Diaphyseal medullary stenosis with malignant fibrous histiocytoma | ClinVar Annotator: match by term: MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY PMID:13511301|PMID:16244874|PMID:16419137|PMID:22464254|PMID:25741868|PMID:28492532|PMID:3745248|PMID:4713573|PMID:8781110 11681124 MTAP methylthioadenosine phosphorylase gene DOID:1793 pancreatic cancer ISO RGD:1320830 D RGD:9068941 20200609 RGD DNA, protein:deletion, decreased activity:pancreas: PMID:15534104|REF_RGD_ID:2317952 11681124 MTAP methylthioadenosine phosphorylase gene DOID:1909 melanoma ISO RGD:1320830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578364 11681124 MTAP methylthioadenosine phosphorylase gene DOID:4608 common bile duct neoplasm ISO RGD:1320830 D RGD:9068941 20200609 RGD DNA, protein:deletion, decreased expression:common bile duct: PMID:15662124|REF_RGD_ID:2317954 11681124 MTAP methylthioadenosine phosphorylase gene DOID:5419 schizophrenia ISO RGD:1320830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11681124 MTAP methylthioadenosine phosphorylase gene DOID:630 genetic disease ISO RGD:1320830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11681124 MTAP methylthioadenosine phosphorylase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21716162 11681124 MTAP methylthioadenosine phosphorylase gene DOID:9002969 Nevus ISO RGD:1320830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578365 11681141 KBTBD8 kelch repeat and BTB domain containing 8 gene DOID:630 genetic disease ISO RGD:1606999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11681153 PHTF1 putative homeodomain transcription factor 1 gene DOID:0080690 RASopathy ISO RGD:1353546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11681153 PHTF1 putative homeodomain transcription factor 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1353546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 11681153 PHTF1 putative homeodomain transcription factor 1 gene DOID:630 genetic disease ISO RGD:1353546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11681176 NLRP9 NLR family pyrin domain containing 9 gene DOID:630 genetic disease ISO RGD:1319070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11681189 ZNF623 zinc finger protein 623 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1345531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11681189 ZNF623 zinc finger protein 623 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1345531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11681189 ZNF623 zinc finger protein 623 gene DOID:4621 holoprosencephaly ISO RGD:1345531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11681189 ZNF623 zinc finger protein 623 gene DOID:630 genetic disease ISO RGD:1345531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11681199 CCT6B chaperonin containing TCP1 subunit 6B gene DOID:630 genetic disease ISO RGD:1345746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11681199 CCT6B chaperonin containing TCP1 subunit 6B gene DOID:8584 Burkitt lymphoma ISO RGD:1345746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 11681199 CCT6B chaperonin containing TCP1 subunit 6B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11681224 NEURL4 neuralized E3 ubiquitin protein ligase 4 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1601733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11681224 NEURL4 neuralized E3 ubiquitin protein ligase 4 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1601733 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11681224 NEURL4 neuralized E3 ubiquitin protein ligase 4 gene DOID:1059 intellectual disability ISO RGD:1601733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11681224 NEURL4 neuralized E3 ubiquitin protein ligase 4 gene DOID:12177 common variable immunodeficiency ISO RGD:1601733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11681224 NEURL4 neuralized E3 ubiquitin protein ligase 4 gene DOID:2729 dyskeratosis congenita ISO RGD:1601733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11681224 NEURL4 neuralized E3 ubiquitin protein ligase 4 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1601733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11681224 NEURL4 neuralized E3 ubiquitin protein ligase 4 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1601733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 11681224 NEURL4 neuralized E3 ubiquitin protein ligase 4 gene DOID:630 genetic disease ISO RGD:1601733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11681256 SF3A2 splicing factor 3a subunit 2 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1318510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 11681256 SF3A2 splicing factor 3a subunit 2 gene DOID:630 genetic disease ISO RGD:1318510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11681256 SF3A2 splicing factor 3a subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11681269 SLC26A1 solute carrier family 26 member 1 gene DOID:0060222 Scheie syndrome ISO RGD:736905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE V | ClinVar Annotator: match by term: Scheie Syndrome PMID:10215409|PMID:11159948|PMID:11735025|PMID:12203999|PMID:12509712|PMID:12559846|PMID:1301941|PMID:14559116|PMID:1505961|PMID:15862278|PMID:18796143|PMID:19396826|PMID:19839758|PMID:21394825|PMID:21480867|PMID:21831683|PMID:22306676|PMID:22976768|PMID:23786846|PMID:24033266|PMID:24036510|PMID:24053568|PMID:24314423|PMID:24368159|PMID:25741868|PMID:27896125|PMID:28492532|PMID:28752568|PMID:29393969|PMID:7550242|PMID:7951228|PMID:8401515|PMID:8664897|PMID:9427149|PMID:9748610|PMID:9787109 11681269 SLC26A1 solute carrier family 26 member 1 gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:736905 D RGD:7240710 20190315 OMIM 11681269 SLC26A1 solute carrier family 26 member 1 gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:736905 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis PMID:25741868|PMID:27125215|PMID:27210743|PMID:27238910|PMID:27939258|PMID:28492532|PMID:32432561 11681269 SLC26A1 solute carrier family 26 member 1 gene DOID:0080653 urolithiasis ISO RGD:736905 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19002488|PMID:20160351 11681269 SLC26A1 solute carrier family 26 member 1 gene DOID:0111389 mucopolysaccharidosis Ih/s ISO RGD:736905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/S | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-I-H/S PMID:10215409|PMID:11159948|PMID:11735025|PMID:12203999|PMID:12509712|PMID:12559846|PMID:1301941|PMID:14559116|PMID:1505961|PMID:15862278|PMID:18796143|PMID:19396826|PMID:19839758|PMID:21394825|PMID:21462124|PMID:21480867|PMID:21831683|PMID:22306676|PMID:22976768|PMID:23786846|PMID:24033266|PMID:24036510|PMID:24053568|PMID:24314423|PMID:24368159|PMID:25741868|PMID:27896125|PMID:28492532|PMID:28752568|PMID:29282708|PMID:29393969|PMID:7550242|PMID:7951228|PMID:8213840|PMID:8401515|PMID:8664897|PMID:8680403|PMID:9427149|PMID:9748610|PMID:9787109 11681269 SLC26A1 solute carrier family 26 member 1 gene DOID:0111390 mucopolysaccharidosis Ih ISO RGD:736905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome | ClinVar Annotator: match by term: Hurler syndrome PMID:10215409|PMID:11159948|PMID:11735025|PMID:12189649|PMID:12203999|PMID:12509712|PMID:12559846|PMID:1301941|PMID:14559116|PMID:1505961|PMID:15300847|PMID:15862278|PMID:16438163|PMID:18796143|PMID:19396826|PMID:19839758|PMID:20217237|PMID:21394825|PMID:21462124|PMID:21480867|PMID:21831683|PMID:22306676|PMID:22976768|PMID:23430803|PMID:23465405|PMID:23786846|PMID:24033266|PMID:24036510|PMID:24053568|PMID:24314423|PMID:24368159|PMID:24798265|PMID:25009127|PMID:25256405|PMID:25557439|PMID:25741868|PMID:27146977|PMID:27238910|PMID:27511503|PMID:27843123|PMID:27896125|PMID:27939258|PMID:28492532|PMID:28721335|PMID:28725570|PMID:28728811|PMID:28752568|PMID:29282708|PMID:29393969|PMID:29843745|PMID:31194252|PMID:31236806|PMID:32432561|PMID:6821579|PMID:7550232|PMID:7550242|PMID:7951228|PMID:8019563|PMID:8213840|PMID:8328452|PMID:8401515|PMID:8477267|PMID:8664897|PMID:8680403|PMID:9427149|PMID:9748610|PMID:9787109 11681269 SLC26A1 solute carrier family 26 member 1 gene DOID:12679 nephrocalcinosis ISO RGD:736905 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20160351 11681269 SLC26A1 solute carrier family 26 member 1 gene DOID:12802 mucopolysaccharidosis I ISO RGD:736905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alpha-L-Iduronidase deficiency | ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 PMID:10215409|PMID:11159948|PMID:11735025|PMID:12189649|PMID:12203999|PMID:12509712|PMID:12559846|PMID:1301941|PMID:14559116|PMID:1505961|PMID:15300847|PMID:15862278|PMID:16199547|PMID:16438163|PMID:17407067|PMID:18796143|PMID:19396826|PMID:19839758|PMID:20217237|PMID:21176924|PMID:21394825|PMID:21462124|PMID:21480867|PMID:21734815|PMID:21831683|PMID:22306676|PMID:22976768|PMID:23430803|PMID:23465405|PMID:23786846|PMID:24033266|PMID:24036510|PMID:24053568|PMID:24314423|PMID:24368159|PMID:24781210|PMID:25009127|PMID:25256405|PMID:25557439|PMID:25741868|PMID:27146977|PMID:27238910|PMID:27511503|PMID:27766162|PMID:27843123|PMID:27896125|PMID:27939258|PMID:28492532|PMID:28721335|PMID:28725570|PMID:28728811|PMID:28752568|PMID:29143201|PMID:29282708|PMID:29393969|PMID:29843745|PMID:30755342|PMID:31194252|PMID:31236806|PMID:32432561|PMID:6821579|PMID:7550232|PMID:7550242|PMID:7951228|PMID:8019563|PMID:8213840|PMID:8328452|PMID:8401515|PMID:8477267|PMID:8664897|PMID:8680403|PMID:9427149|PMID:9748610|PMID:9787109 11681269 SLC26A1 solute carrier family 26 member 1 gene DOID:1856 cherubism ISO RGD:736905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11681269 SLC26A1 solute carrier family 26 member 1 gene DOID:2978 carbohydrate metabolic disorder ISO RGD:736905 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormality of mucopolysaccharide metabolism PMID:11735025|PMID:21176924|PMID:21480867|PMID:25741868|PMID:28492532|PMID:30755342|PMID:7550242 11681269 SLC26A1 solute carrier family 26 member 1 gene DOID:3082 interstitial lung disease ISO RGD:736905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial pneumonitis PMID:10215409|PMID:11159948|PMID:11735025|PMID:1301941|PMID:1505961|PMID:18796143|PMID:19396826|PMID:21394825|PMID:21480867|PMID:21831683|PMID:22976768|PMID:23786846|PMID:24033266|PMID:24314423|PMID:24368159|PMID:25741868|PMID:28492532|PMID:28752568|PMID:29393969|PMID:7951228|PMID:8401515|PMID:9427149|PMID:9787109 11681269 SLC26A1 solute carrier family 26 member 1 gene DOID:585 nephrolithiasis ISO RGD:736905 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis | ClinVar Annotator: match by term: Calcium oxalate urolithiasis PMID:25741868|PMID:27125215|PMID:27210743|PMID:27238910|PMID:27939258|PMID:28492532|PMID:32432561 11681269 SLC26A1 solute carrier family 26 member 1 gene DOID:630 genetic disease ISO RGD:736905 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15300847|PMID:23465405|PMID:25741868|PMID:27843123|PMID:27939258|PMID:28492532|PMID:28721335|PMID:28725570|PMID:28728811 11681269 SLC26A1 solute carrier family 26 member 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:736905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 11681269 SLC26A1 solute carrier family 26 member 1 gene DOID:9004912 Hyperoxaluria ISO RGD:736905 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20160351 11681269 SLC26A1 solute carrier family 26 member 1 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:736905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 11681278 PRKCSH protein kinase C substrate 80K-H gene DOID:0050770 polycystic liver disease ISO RGD:1320068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:25741868|PMID:28492532 11681278 PRKCSH protein kinase C substrate 80K-H gene DOID:0050990 episodic ataxia type 2 ISO RGD:1320068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11681278 PRKCSH protein kinase C substrate 80K-H gene DOID:0080322 polycystic kidney disease ISO RGD:1320068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21685914 11681278 PRKCSH protein kinase C substrate 80K-H gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1320068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11681278 PRKCSH protein kinase C substrate 80K-H gene DOID:0110624 primary ciliary dyskinesia 30 ISO RGD:1320068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 30 11681278 PRKCSH protein kinase C substrate 80K-H gene DOID:0111254 glutaric acidemia I ISO RGD:1320068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11681278 PRKCSH protein kinase C substrate 80K-H gene DOID:2043 hepatitis B treatment ISO RGD:1320069 D RGD:9068941 20200609 RGD PMID:24769044|REF_RGD_ID:14402034 11681278 PRKCSH protein kinase C substrate 80K-H gene DOID:3413 alpha-mannosidosis ISO RGD:1320068 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11681278 PRKCSH protein kinase C substrate 80K-H gene DOID:409 liver disease ISO RGD:1320068 D RGD:9068941 20200609 RGD PMID:12529853|REF_RGD_ID:1599188 11681278 PRKCSH protein kinase C substrate 80K-H gene DOID:630 genetic disease ISO RGD:1320068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28166811|PMID:28492532 11681278 PRKCSH protein kinase C substrate 80K-H gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1320068 D RGD:7240710 20180130 OMIM 11681278 PRKCSH protein kinase C substrate 80K-H gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1320068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Polycystic liver disease 1 PMID:11047756|PMID:12529853|PMID:12577059|PMID:16835903|PMID:22415584|PMID:25741868|PMID:26046366|PMID:28166811|PMID:28492532|PMID:29038287 11681307 HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 gene DOID:0060544 Hermansky-Pudlak syndrome 6 ISO RGD:1347712 D RGD:7240710 20180130 OMIM 11681307 HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 gene DOID:0060544 Hermansky-Pudlak syndrome 6 ISO RGD:1347712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 6 PMID:12548288|PMID:17041891|PMID:19843503|PMID:20158590|PMID:24033266|PMID:25741868|PMID:25949529|PMID:27225848|PMID:28492532|PMID:29345414|PMID:30369044|PMID:30387913|PMID:31064749|PMID:31898847|PMID:32581362|PMID:32725903|PMID:32830442|PMID:33878481|PMID:35054407 11681307 HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 gene DOID:11983 Prader-Willi syndrome ISO RGD:1347712 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:25741868|PMID:27593200|PMID:28492532|PMID:30387913 11681307 HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 gene DOID:2213 hemorrhagic disease ISO RGD:1347712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:28492532 11681307 HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 gene DOID:2223 platelet storage pool deficiency ISO RGD:1347712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Storage pool disease of platelets PMID:25741868|PMID:28492532|PMID:31064749 11681307 HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1347712 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:12548288|PMID:17041891|PMID:19843503|PMID:24033266|PMID:25741868|PMID:26575419|PMID:27225848|PMID:28492532|PMID:29345414|PMID:31064749|PMID:35054407 11681307 HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 gene DOID:630 genetic disease ISO RGD:1347712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11681312 FARP1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1313320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 11681312 FARP1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 gene DOID:303 substance-related disorder ISO RGD:1313320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11681312 FARP1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 gene DOID:630 genetic disease ISO RGD:1313320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11681312 FARP1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1313320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11681353 ATG4B autophagy related 4B cysteine peptidase gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1320126 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11681353 ATG4B autophagy related 4B cysteine peptidase gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1320126 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11681353 ATG4B autophagy related 4B cysteine peptidase gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1320126 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11681353 ATG4B autophagy related 4B cysteine peptidase gene DOID:1059 intellectual disability ISO RGD:1320126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11681353 ATG4B autophagy related 4B cysteine peptidase gene DOID:630 genetic disease ISO RGD:1320126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11681353 ATG4B autophagy related 4B cysteine peptidase gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1320126 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11681375 PTMS parathymosin gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:734337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11681375 PTMS parathymosin gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:734337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11681375 PTMS parathymosin gene DOID:0111621 Temtamy syndrome ISO RGD:734337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11681375 PTMS parathymosin gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:734337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11681438 GSTK1 glutathione S-transferase kappa 1 gene DOID:630 genetic disease ISO RGD:1606879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11681438 GSTK1 glutathione S-transferase kappa 1 gene DOID:8398 osteoarthritis ISO RGD:1606879 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11681438 GSTK1 glutathione S-transferase kappa 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606879 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11681452 PHF7 PHD finger protein 7 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1318527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 11681452 PHF7 PHD finger protein 7 gene DOID:10003 sensorineural hearing loss ISO RGD:1318527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27876815 11681452 PHF7 PHD finger protein 7 gene DOID:630 genetic disease ISO RGD:1318527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11681474 ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1348513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25678704|PMID:26467025|PMID:28492532|PMID:28589176|PMID:29130122 11681474 ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11681474 ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1348513 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:25741868|PMID:9383023 11681474 ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:0080215 developmental and epileptic encephalopathy 8 ISO RGD:1348513 D RGD:7240710 20180130 OMIM 11681474 ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:0080215 developmental and epileptic encephalopathy 8 ISO RGD:1348513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 PMID:15215304|PMID:16199547|PMID:16616186|PMID:17576681|PMID:17893116|PMID:18414213|PMID:18615734|PMID:21633362|PMID:21731583|PMID:22612257|PMID:23033978|PMID:25568878|PMID:25678704|PMID:25741868|PMID:26467025|PMID:26834553|PMID:27238888|PMID:28492532|PMID:28589176|PMID:28620718|PMID:28708303|PMID:29130122|PMID:30914922|PMID:31054490|PMID:32005694|PMID:32860008|PMID:33860439|PMID:9536098 11681474 ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1348513 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 11681474 ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:1059 intellectual disability ISO RGD:1348513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11681474 ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:12849 autistic disorder ISO RGD:1348513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11681474 ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:1826 epilepsy ISO RGD:1348513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11681474 ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:630 genetic disease ISO RGD:1348513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16616186|PMID:18414213|PMID:21731583|PMID:22612257|PMID:25568878|PMID:25678704|PMID:25741868|PMID:26467025|PMID:26834553|PMID:28492532|PMID:28589176|PMID:28620718|PMID:29130122|PMID:30914922 11681474 ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1348513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21807943 11681474 ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:9008086 Developmental Disabilities ISO RGD:1348513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:17893116|PMID:18615734|PMID:23033978|PMID:25678704|PMID:25741868|PMID:26834553|PMID:28492532|PMID:28589176|PMID:28708303 11681474 ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:9008582 Developmental Disease ISO RGD:1348513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25678704|PMID:25741868|PMID:26834553|PMID:28492532|PMID:28589176 11681513 PPM1F protein phosphatase, Mg2+/Mn2+ dependent 1F gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:737169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 11681513 PPM1F protein phosphatase, Mg2+/Mn2+ dependent 1F gene DOID:11198 DiGeorge syndrome ISO RGD:737169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 11681513 PPM1F protein phosphatase, Mg2+/Mn2+ dependent 1F gene DOID:630 genetic disease ISO RGD:737169 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11681525 KDM2B lysine demethylase 2B gene DOID:0080074 neural tube defect ISO RGD:1320990 D RGD:9068941 20200609 RGD PMID:21220025|REF_RGD_ID:9588256 11681525 KDM2B lysine demethylase 2B gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1310217 D RGD:9068941 20200609 RGD DNA:insertions:promoter:multiple (rat) PMID:18250326|REF_RGD_ID:9588252 11681525 KDM2B lysine demethylase 2B gene DOID:3587 pancreatic ductal carcinoma severity ISO RGD:1320989 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas (human) PMID:23321669|REF_RGD_ID:9588253 11681525 KDM2B lysine demethylase 2B gene DOID:5419 schizophrenia ISO RGD:1320989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 11681525 KDM2B lysine demethylase 2B gene DOID:630 genetic disease ISO RGD:1320989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11681525 KDM2B lysine demethylase 2B gene DOID:9008086 Developmental Disabilities ISO RGD:1320989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11681525 KDM2B lysine demethylase 2B gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1320989 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow (human) PMID:21310926|REF_RGD_ID:9588255 11681587 NOTCH4 notch receptor 4 gene DOID:0050553 JMP syndrome ISO RGD:1354309 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11681587 NOTCH4 notch receptor 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1354309 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11681587 NOTCH4 notch receptor 4 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1354309 D RGD:9068941 20200609 RGD PMID:17440163|REF_RGD_ID:2299156 11681587 NOTCH4 notch receptor 4 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1354309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868|PMID:27231971 11681587 NOTCH4 notch receptor 4 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1354309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459|PMID:28492532 11681587 NOTCH4 notch receptor 4 gene DOID:10487 Hirschsprung's disease ISO RGD:1354309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 11681587 NOTCH4 notch receptor 4 gene DOID:1307 dementia ISO RGD:1354309 D RGD:9068941 20200609 RGD PMID:21297263|REF_RGD_ID:6480775 11681587 NOTCH4 notch receptor 4 gene DOID:1380 endometrial cancer ISO RGD:1354309 D RGD:9068941 20200609 RGD mRNA:decreased expression:endometrium PMID:11078798|REF_RGD_ID:2299153 11681587 NOTCH4 notch receptor 4 gene DOID:1749 squamous cell carcinoma ISO RGD:1354309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27923803 11681587 NOTCH4 notch receptor 4 gene DOID:2349 arteriosclerosis ISO RGD:1354309 D RGD:9068941 20200609 RGD PMID:18802018|REF_RGD_ID:6480862 11681587 NOTCH4 notch receptor 4 gene DOID:2377 multiple sclerosis ISO RGD:1354309 D RGD:9068941 20200609 RGD DNA: snps: cds: rs422951 PMID:21654846|REF_RGD_ID:6480692 11681587 NOTCH4 notch receptor 4 gene DOID:264 hemangiopericytoma ISO RGD:1354309 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:anterior temporal lobe PMID:26951238|REF_RGD_ID:155663351 11681587 NOTCH4 notch receptor 4 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1354309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 11681587 NOTCH4 notch receptor 4 gene DOID:418 systemic scleroderma ISO RGD:1354309 D RGD:9068941 20200609 RGD DNA: SNPs: non-coding :multiple PMID:21779181|REF_RGD_ID:6480691 11681587 NOTCH4 notch receptor 4 gene DOID:5241 hemangioblastoma ISO RGD:1354309 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:temporal lobe : PMID:27388534|REF_RGD_ID:155641257 11681587 NOTCH4 notch receptor 4 gene DOID:5419 schizophrenia ISO RGD:1354309 D RGD:9068941 20200609 RGD DNA: SNP: intron: rs520692 PMID:16894623|REF_RGD_ID:6480689 11681587 NOTCH4 notch receptor 4 gene DOID:5419 schizophrenia no_association ISO RGD:1354309 D RGD:9068941 20200609 RGD DNA: SNPs: :five SNPs in a Japanese population PMID:15211628|REF_RGD_ID:6480690 11681587 NOTCH4 notch receptor 4 gene DOID:5419 schizophrenia susceptibility ISO RGD:1354309 D RGD:9068941 20200609 RGD DNA:snps, haplotype:5' utr:g.-1725T>G, g.-25T>C (human) PMID:14732589|REF_RGD_ID:1358753 11681587 NOTCH4 notch receptor 4 gene DOID:630 genetic disease ISO RGD:1354309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11681587 NOTCH4 notch receptor 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1354309 D RGD:9068941 20200609 RGD mRNA : increased expression: : cd4+ cells PMID:20132067|REF_RGD_ID:6480790 11681587 NOTCH4 notch receptor 4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1553588 D RGD:9068941 20200609 RGD DNA, mRNA:mutation, alternative form PMID:8030284|REF_RGD_ID:2299155 11681587 NOTCH4 notch receptor 4 gene DOID:9004464 Skin Neoplasms ISO RGD:1354309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27923803 11681587 NOTCH4 notch receptor 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1354309 D RGD:9068941 20200609 RGD PMID:15531924|REF_RGD_ID:2299154 11681587 NOTCH4 notch receptor 4 gene DOID:9008782 AIDS-Associated Nephropathy ISO RGD:1303282 D RGD:9068941 20200609 RGD protein: increased expression: kidney PMID:20706108|REF_RGD_ID:6480788 11681587 NOTCH4 notch receptor 4 gene DOID:9008782 AIDS-Associated Nephropathy ISO RGD:1354309 D RGD:9068941 20200609 RGD protein: increased expression: kidney PMID:20706108|REF_RGD_ID:6480788 11681587 NOTCH4 notch receptor 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1354309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21036696|PMID:21679465 11681587 NOTCH4 notch receptor 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1354309 D RGD:9068941 20200609 RGD DNA: SNP: 5' utr: rs2395106 PMID:19143814|REF_RGD_ID:6480791 11681587 NOTCH4 notch receptor 4 gene DOID:986 alopecia areata ISO RGD:1354309 D RGD:9068941 20200609 RGD PMID:12589427|REF_RGD_ID:6480681 11681626 SRRD SRR1 domain containing gene DOID:0110271 cataract 23 ISO RGD:1606069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 11681626 SRRD SRR1 domain containing gene DOID:630 genetic disease ISO RGD:1606069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11681637 SLC22A5 solute carrier family 22 member 5 gene DOID:0050700 cardiomyopathy ISO RGD:733710 D RGD:9068941 20200609 RGD DNA:frameshift mutation:cds:p.R282fsX295 (human) PMID:15487009|REF_RGD_ID:1580608 11681637 SLC22A5 solute carrier family 22 member 5 gene DOID:0050908 myelodysplastic syndrome ISO RGD:733710 D RGD:9068941 20200609 RGD mRNA:decreased expression:PBMCs (human) PMID:12802501|REF_RGD_ID:1580610 11681637 SLC22A5 solute carrier family 22 member 5 gene DOID:0060041 autism spectrum disorder ISO RGD:733710 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11681637 SLC22A5 solute carrier family 22 member 5 gene DOID:0060235 carnitine palmitoyltransferase II deficiency ISO RGD:733710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency PMID:10051646|PMID:10480371|PMID:11715001|PMID:12210323|PMID:16199547|PMID:16652335|PMID:16830263|PMID:17576681|PMID:17703373|PMID:18337137|PMID:20027113|PMID:20074989|PMID:20208395|PMID:20574985|PMID:21126579|PMID:21864509|PMID:21922592|PMID:2199596|PMID:2235122|PMID:23430858|PMID:23520115|PMID:23653224|PMID:23757202|PMID:23798014|PMID:23963628|PMID:24746540|PMID:24997454|PMID:25132046|PMID:25224063|PMID:25741868|PMID:26190315|PMID:26828774|PMID:27896095|PMID:28166811|PMID:28492532|PMID:28711408|PMID:28841266|PMID:30863740|PMID:31364285|PMID:3215194|PMID:9536098|PMID:9916797 11681637 SLC22A5 solute carrier family 22 member 5 gene DOID:0060235 carnitine palmitoyltransferase II deficiency ISO RGD:733710 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Carnitine deficiency PMID:10051646|PMID:10480371|PMID:11715001|PMID:12210323|PMID:16199547|PMID:16652335|PMID:16830263|PMID:17576681|PMID:17703373|PMID:20027113|PMID:20208395|PMID:20574985|PMID:21864509|PMID:21922592|PMID:2199596|PMID:2235122|PMID:23430858|PMID:23653224|PMID:23757202|PMID:23798014|PMID:23963628|PMID:24746540|PMID:24997454|PMID:25132046|PMID:25224063|PMID:25741868|PMID:27896095|PMID:28492532|PMID:28711408|PMID:28841266|PMID:30863740|PMID:31364285|PMID:3215194|PMID:32371215|PMID:33181153|PMID:9536098|PMID:9916797 11681637 SLC22A5 solute carrier family 22 member 5 gene DOID:0060235 carnitine palmitoyltransferase II deficiency ISO RGD:733710 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency PMID:10051646|PMID:10480371|PMID:11715001|PMID:12210323|PMID:16199547|PMID:16652335|PMID:16830263|PMID:17576681|PMID:17703373|PMID:20027113|PMID:20208395|PMID:20574985|PMID:21864509|PMID:21922592|PMID:2199596|PMID:2235122|PMID:23430858|PMID:23653224|PMID:23757202|PMID:23798014|PMID:23963628|PMID:24746540|PMID:24997454|PMID:25132046|PMID:25224063|PMID:25741868|PMID:27896095|PMID:28492532|PMID:28711408|PMID:28841266|PMID:30863740|PMID:31364285|PMID:3215194|PMID:32371215|PMID:33181153|PMID:34178604|PMID:9536098|PMID:9916797 11681637 SLC22A5 solute carrier family 22 member 5 gene DOID:0060235 carnitine palmitoyltransferase II deficiency ISO RGD:733710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency PMID:10051646|PMID:10480371|PMID:11715001|PMID:12210323|PMID:14605509|PMID:15714519|PMID:16199547|PMID:16652335|PMID:16830263|PMID:17576681|PMID:17703373|PMID:18337137|PMID:20027113|PMID:20074989|PMID:20208395|PMID:20574985|PMID:21864509|PMID:21922592|PMID:2199596|PMID:2235122|PMID:23430858|PMID:23520115|PMID:23653224|PMID:23757202|PMID:23798014|PMID:23963628|PMID:24746540|PMID:24997454|PMID:25132046|PMID:25224063|PMID:25741868|PMID:26190315|PMID:26828774|PMID:27896095|PMID:28492532|PMID:28711408|PMID:28841266|PMID:30863740|PMID:31364285|PMID:3215194|PMID:32371215|PMID:33181153|PMID:34178604|PMID:9536098|PMID:9916797 11681637 SLC22A5 solute carrier family 22 member 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733710 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11681637 SLC22A5 solute carrier family 22 member 5 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:733710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:20074989|PMID:23520115|PMID:25741868|PMID:28492532 11681637 SLC22A5 solute carrier family 22 member 5 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:733710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:20074989|PMID:23520115|PMID:25741868|PMID:28492532 11681637 SLC22A5 solute carrier family 22 member 5 gene DOID:0110889 inflammatory bowel disease 5 ISO RGD:733710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 5 PMID:15107849|PMID:16333318|PMID:17213842 11681637 SLC22A5 solute carrier family 22 member 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:733710 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 11681637 SLC22A5 solute carrier family 22 member 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:733710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic PMID:20074989|PMID:23520115|PMID:25741868|PMID:28492532 11681637 SLC22A5 solute carrier family 22 member 5 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:733710 D RGD:7240710 20180130 OMIM 11681637 SLC22A5 solute carrier family 22 member 5 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:733710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:10051646|PMID:10072434|PMID:10425211|PMID:10454528|PMID:10480371|PMID:10545605|PMID:10559218|PMID:10612840|PMID:10679939|PMID:11058897|PMID:11715001|PMID:12183691|PMID:12204000|PMID:12210323|PMID:12408185|PMID:12409266|PMID:14506273|PMID:14605509|PMID:14665638|PMID:15303004|PMID:15523054|PMID:15617188|PMID:15714519|PMID:16199547|PMID:16602102|PMID:16652335|PMID:16830263|PMID:16931768|PMID:17126586|PMID:17486650|PMID:17576681|PMID:17594400|PMID:17703373|PMID:18337137|PMID:18673259|PMID:19141711|PMID:19208393|PMID:19238580|PMID:19419416|PMID:20027113|PMID:20074989|PMID:20208395|PMID:20574985|PMID:21126579|PMID:21864509|PMID:21922592|PMID:2199596|PMID:22116472|PMID:2216472|PMID:2235122|PMID:22494076|PMID:22989098|PMID:23090741|PMID:23379544|PMID:23430798|PMID:23430858|PMID:23430869|PMID:23520115|PMID:23653224|PMID:23757202|PMID:23798014|PMID:23963628|PMID:24033266|PMID:24516753|PMID:24517888|PMID:24746540|PMID:24997454|PMID:25132046|PMID:25224063|PMID:25525159|PMID:25665836|PMID:25741868|PMID:25846890|PMID:25961151|PMID:26075114|PMID:26190315|PMID:26252091|PMID:26350513|PMID:26633542|PMID:26828774|PMID:26990548|PMID:27181684|PMID:27320645|PMID:27581592|PMID:27629047|PMID:27896095|PMID:27931018|PMID:28074886|PMID:28492532|PMID:28554332|PMID:28711408|PMID:28753539|PMID:28841266|PMID:28857146|PMID:29132460|PMID:29165669|PMID:29790872|PMID:30609409|PMID:30626930|PMID:30838026|PMID:30863740|PMID:30904546|PMID:31187905|PMID:31200524|PMID:31364285|PMID:31737040|PMID:31813139|PMID:31864849|PMID:31980526|PMID:3215194|PMID:32371215|PMID:32371413|PMID:32778825|PMID:32793418|PMID:32870709|PMID:33181153|PMID:33560599|PMID:33757571|PMID:34032155|PMID:34178604|PMID:34249102|PMID:34637945|PMID:35095998|PMID:35281663|PMID:35888728|PMID:3974805|PMID:9536098|PMID:9634512|PMID:9700600|PMID:9700603|PMID:9826541|PMID:9916797 11681637 SLC22A5 solute carrier family 22 member 5 gene DOID:1790 malignant mesothelioma ISO RGD:733710 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 11681637 SLC22A5 solute carrier family 22 member 5 gene DOID:630 genetic disease ISO RGD:733710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12210323|PMID:16652335|PMID:16830263|PMID:20574985|PMID:21922592|PMID:23430869|PMID:24997454|PMID:25741868|PMID:28492532 11681637 SLC22A5 solute carrier family 22 member 5 gene DOID:655 inherited metabolic disorder ISO RGD:733710 D RGD:9068941 20200609 RGD primary systemic carnitine deficiency,OMIM:212140;DNA:deletion:exon PMID:3974805|REF_RGD_ID:1624241 11681637 SLC22A5 solute carrier family 22 member 5 gene DOID:820 myocarditis ISO RGD:733710 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641380 11681637 SLC22A5 solute carrier family 22 member 5 gene DOID:8778 Crohn's disease susceptibility ISO RGD:733710 D RGD:9068941 20200609 RGD DNA:snp, haplotype:promoter:g.-207G>C (human) PMID:15107849|REF_RGD_ID:1580609 11681637 SLC22A5 solute carrier family 22 member 5 gene DOID:9000220 Coxsackievirus Infections ISO RGD:733710 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641380 11681637 SLC22A5 solute carrier family 22 member 5 gene DOID:9002189 High Myopia ISO RGD:733710 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: High myopia PMID:18673259|PMID:25741868|PMID:26633542|PMID:26828774|PMID:28074886|PMID:28492532|PMID:28841266 11681637 SLC22A5 solute carrier family 22 member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11681637 SLC22A5 solute carrier family 22 member 5 gene DOID:9005372 Inflammation ISO RGD:733710 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641380 11681637 SLC22A5 solute carrier family 22 member 5 gene DOID:9006534 Nervous System Malformations ISO RGD:733710 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:20208395|PMID:20574985|PMID:21864509|PMID:24033266|PMID:25741868|PMID:28074886|PMID:28492532|PMID:30626930|PMID:31980526|PMID:32371413|PMID:32778825 11681637 SLC22A5 solute carrier family 22 member 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733710 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11681653 PTPRC protein tyrosine phosphatase receptor type C gene DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive ISO RGD:736371 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive PMID:11101853|PMID:11528386|PMID:11548742|PMID:11841494|PMID:12373647|PMID:15372250|PMID:16505159|PMID:19111528|PMID:21507955|PMID:28492532|PMID:7621884 11681653 PTPRC protein tyrosine phosphatase receptor type C gene DOID:1540 parathyroid carcinoma ISO RGD:736371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11681653 PTPRC protein tyrosine phosphatase receptor type C gene DOID:2377 multiple sclerosis ISO RGD:736371 D RGD:9068941 20200609 RGD DNA:snp:exon:c.77C>G (human) PMID:11101853|REF_RGD_ID:1358566 11681653 PTPRC protein tyrosine phosphatase receptor type C gene DOID:5679 retinal disease ISO RGD:736371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19324842 11681653 PTPRC protein tyrosine phosphatase receptor type C gene DOID:627 severe combined immunodeficiency ISO RGD:736371 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 11681653 PTPRC protein tyrosine phosphatase receptor type C gene DOID:630 genetic disease ISO RGD:736371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11681653 PTPRC protein tyrosine phosphatase receptor type C gene DOID:7148 rheumatoid arthritis ISO RGD:736371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 11681653 PTPRC protein tyrosine phosphatase receptor type C gene DOID:9000795 Immunodeficiency 104 ISO RGD:736371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 104 PMID:10700239|PMID:11101853|PMID:11528386|PMID:11548742|PMID:11841494|PMID:12373647|PMID:15372250|PMID:16199547|PMID:16505159|PMID:17576681|PMID:19111528|PMID:21507955|PMID:25741868|PMID:26915675|PMID:28492532|PMID:31848144|PMID:7621884|PMID:9536098 11681653 PTPRC protein tyrosine phosphatase receptor type C gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11681653 PTPRC protein tyrosine phosphatase receptor type C gene DOID:9002304 Prostatic Neoplasms ISO RGD:736371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11681653 PTPRC protein tyrosine phosphatase receptor type C gene DOID:9002514 Neointima treatment ISO RGD:3451 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:12377736|REF_RGD_ID:729766 11681653 PTPRC protein tyrosine phosphatase receptor type C gene DOID:9005579 Immunodeficiency 105 ISO RGD:736371 D RGD:7240710 20220720 OMIM 11681653 PTPRC protein tyrosine phosphatase receptor type C gene DOID:9005579 Immunodeficiency 105 ISO RGD:736371 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Immunodeficiency 105 PMID:10700239|PMID:11101853|PMID:11145714|PMID:11528386|PMID:11548742|PMID:11841494|PMID:12373647|PMID:15372250|PMID:16505159|PMID:19111528|PMID:21507955|PMID:22689986|PMID:25741868|PMID:26915675|PMID:28492532|PMID:7621884|PMID:9068311 11681653 PTPRC protein tyrosine phosphatase receptor type C gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:736371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 11681653 PTPRC protein tyrosine phosphatase receptor type C gene DOID:9074 systemic lupus erythematosus ISO RGD:11196 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 11681653 PTPRC protein tyrosine phosphatase receptor type C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11681695 OBSL1 obscurin like cytoskeletal adaptor 1 gene DOID:0060241 3-M syndrome ISO RGD:1603688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3-M syndrome 11681695 OBSL1 obscurin like cytoskeletal adaptor 1 gene DOID:0060604 ankyloglossia ISO RGD:1603688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ankyloglossia PMID:25741868|PMID:28492532|PMID:30755392 11681695 OBSL1 obscurin like cytoskeletal adaptor 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1603688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11681695 OBSL1 obscurin like cytoskeletal adaptor 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1603688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11681695 OBSL1 obscurin like cytoskeletal adaptor 1 gene DOID:1148 polydactyly ISO RGD:1603688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 11681695 OBSL1 obscurin like cytoskeletal adaptor 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1603688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11681695 OBSL1 obscurin like cytoskeletal adaptor 1 gene DOID:630 genetic disease ISO RGD:1603688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11681695 OBSL1 obscurin like cytoskeletal adaptor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11681695 OBSL1 obscurin like cytoskeletal adaptor 1 gene DOID:9005349 Three M Syndrome 1 ISO RGD:1603688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3M syndrome 1 PMID:30980518 11681695 OBSL1 obscurin like cytoskeletal adaptor 1 gene DOID:9006598 Three M Syndrome 2 ISO RGD:1603688 D RGD:7240710 20180509 OMIM 11681695 OBSL1 obscurin like cytoskeletal adaptor 1 gene DOID:9006598 Three M Syndrome 2 ISO RGD:1603688 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 3M syndrome 2 PMID:16531729|PMID:17681982|PMID:19481195|PMID:19877176|PMID:20164589|PMID:25741868|PMID:25923536|PMID:26627873|PMID:27796265|PMID:27959697|PMID:28492532|PMID:28969986|PMID:30980518|PMID:33135300 11681695 OBSL1 obscurin like cytoskeletal adaptor 1 gene DOID:9007661 Dwarfism ISO RGD:1603688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:19481195|PMID:25741868 11681719 MAGED1 MAGE family member D1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11681719 MAGED1 MAGE family member D1 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:736331 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 11681719 MAGED1 MAGE family member D1 gene DOID:12849 autistic disorder ISO RGD:736331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11681719 MAGED1 MAGE family member D1 gene DOID:630 genetic disease ISO RGD:736331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11681744 RNF169 ring finger protein 169 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1602283 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11681744 RNF169 ring finger protein 169 gene DOID:1059 intellectual disability ISO RGD:1602283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11681744 RNF169 ring finger protein 169 gene DOID:630 genetic disease ISO RGD:1602283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11681754 DDI2 DNA damage inducible 1 homolog 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603951 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11681754 DDI2 DNA damage inducible 1 homolog 2 gene DOID:630 genetic disease ISO RGD:1603951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11681754 DDI2 DNA damage inducible 1 homolog 2 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1603951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23721890|PMID:28492532 11681773 CARNMT1 carnosine N-methyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:1323541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 11681773 CARNMT1 carnosine N-methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1323541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11681799 SLC17A6 solute carrier family 17 member 6 gene DOID:1059 intellectual disability ISO RGD:730912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11681799 SLC17A6 solute carrier family 17 member 6 gene DOID:224 transient cerebral ischemia ISO RGD:620531 D RGD:9068941 20200609 RGD PMID:23458738|REF_RGD_ID:9999193 11681799 SLC17A6 solute carrier family 17 member 6 gene DOID:630 genetic disease ISO RGD:730912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11681799 SLC17A6 solute carrier family 17 member 6 gene DOID:8927 learning disability ISO RGD:730912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21295146 11681799 SLC17A6 solute carrier family 17 member 6 gene DOID:9008023 Memory Disorders ISO RGD:730912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21295146 11681815 NDE1 nudE neurodevelopment protein 1 gene DOID:0050453 lissencephaly ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:18391202|PMID:24033266|PMID:25741868|PMID:26017485|PMID:26436109|PMID:28166811|PMID:28492532|PMID:31664448 11681815 NDE1 nudE neurodevelopment protein 1 gene DOID:0050453 lissencephaly ISO RGD:1348797 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:18391202|PMID:24033266|PMID:25741868|PMID:26017485|PMID:26436109|PMID:28492532|PMID:31664448 11681815 NDE1 nudE neurodevelopment protein 1 gene DOID:0050453 lissencephaly ISO RGD:1348797 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:18391202|PMID:24033266|PMID:25741868|PMID:26017485|PMID:26436109|PMID:28492532|PMID:28679693|PMID:30122538|PMID:31664448 11681815 NDE1 nudE neurodevelopment protein 1 gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1348797 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction PMID:25741868|PMID:31389005 11681815 NDE1 nudE neurodevelopment protein 1 gene DOID:0112235 lissencephaly 4 ISO RGD:1348797 D RGD:7240710 20180130 OMIM 11681815 NDE1 nudE neurodevelopment protein 1 gene DOID:0112235 lissencephaly 4 ISO RGD:1348797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) PMID:18414213|PMID:21529751|PMID:21529752|PMID:24033266|PMID:25326635|PMID:25332407|PMID:25741868|PMID:26206584|PMID:26467025|PMID:28492532|PMID:30637988 11681815 NDE1 nudE neurodevelopment protein 1 gene DOID:1059 intellectual disability ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18414213|PMID:25326635|PMID:25741868|PMID:28492532 11681815 NDE1 nudE neurodevelopment protein 1 gene DOID:12849 autistic disorder ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11681815 NDE1 nudE neurodevelopment protein 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16199547|PMID:16444274|PMID:17576681|PMID:18391202|PMID:20226094|PMID:21937134|PMID:22001912|PMID:23099432|PMID:23142374|PMID:24033266|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26436109|PMID:26467025|PMID:27146836|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:28074631|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30122538|PMID:31473177|PMID:31664448|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32238909|PMID:32368696|PMID:9536098 11681815 NDE1 nudE neurodevelopment protein 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348797 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16199547|PMID:16444274|PMID:17576681|PMID:18391202|PMID:20226094|PMID:21937134|PMID:22001912|PMID:23099432|PMID:23142374|PMID:24033266|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26436109|PMID:26467025|PMID:27146836|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:28074631|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30122538|PMID:31473177|PMID:31664448|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32238909|PMID:32368696|PMID:32600061|PMID:9536098 11681815 NDE1 nudE neurodevelopment protein 1 gene DOID:1826 epilepsy ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11681815 NDE1 nudE neurodevelopment protein 1 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum PMID:16541094 11681815 NDE1 nudE neurodevelopment protein 1 gene DOID:3627 aortic aneurysm ISO RGD:1348797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm PMID:22001912|PMID:25741868|PMID:28492532 11681815 NDE1 nudE neurodevelopment protein 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868 11681815 NDE1 nudE neurodevelopment protein 1 gene DOID:4080 tricuspid valve insufficiency ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tricuspid regurgitation PMID:25741868 11681815 NDE1 nudE neurodevelopment protein 1 gene DOID:520 aortic disease ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:24033266|PMID:25741868|PMID:28492532 11681815 NDE1 nudE neurodevelopment protein 1 gene DOID:5419 schizophrenia ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11681815 NDE1 nudE neurodevelopment protein 1 gene DOID:630 genetic disease ISO RGD:1348797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25500235|PMID:25637381|PMID:25741868|PMID:28492532|PMID:9536098 11681815 NDE1 nudE neurodevelopment protein 1 gene DOID:65 connective tissue disease ISO RGD:1348797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:17576681|PMID:22001912|PMID:25500235|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:26188975|PMID:27153395|PMID:28492532|PMID:29543232|PMID:29907982|PMID:32238909|PMID:32368696|PMID:9536098 11681815 NDE1 nudE neurodevelopment protein 1 gene DOID:8445 intestinal volvulus ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11681815 NDE1 nudE neurodevelopment protein 1 gene DOID:9000664 Familial Thoracic Aortic Aneurysm 4 ISO RGD:1348797 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:16199547|PMID:16444274|PMID:17576681|PMID:18391202|PMID:20226094|PMID:21698135|PMID:21937134|PMID:22001912|PMID:22318994|PMID:23099432|PMID:23142374|PMID:24033266|PMID:25407000|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26436109|PMID:26467025|PMID:27146836|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:27884122|PMID:28074631|PMID:28166811|PMID:28195393|PMID:28367076|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29179725|PMID:29441698|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29907982|PMID:30122538|PMID:31473177|PMID:31664448|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32238909|PMID:32368696|PMID:32600061|PMID:35535697|PMID:9536098 11681815 NDE1 nudE neurodevelopment protein 1 gene DOID:9000924 Gastrointestinal Motility Disorders ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal and colonic dysmotility PMID:18391202 11681815 NDE1 nudE neurodevelopment protein 1 gene DOID:9001104 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 ISO RGD:1348797 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 PMID:17576681|PMID:22001912|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29543232|PMID:29907982|PMID:32238909|PMID:9536098 11681815 NDE1 nudE neurodevelopment protein 1 gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:1348797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI PMID:25500235|PMID:25637381|PMID:25741868|PMID:28492532 11681815 NDE1 nudE neurodevelopment protein 1 gene DOID:9002767 Microhydranencephaly ISO RGD:1348797 D RGD:7240710 20180130 OMIM 11681815 NDE1 nudE neurodevelopment protein 1 gene DOID:9002767 Microhydranencephaly ISO RGD:1348797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydranencephaly and microcephaly PMID:10762554|PMID:18414213|PMID:22526350|PMID:25326635|PMID:25332407|PMID:25741868|PMID:28492532|PMID:30637988 11681815 NDE1 nudE neurodevelopment protein 1 gene DOID:9007096 Stroke ISO RGD:1348797 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:28492532 11681815 NDE1 nudE neurodevelopment protein 1 gene DOID:9007521 Desbuquois Dysplasia 1 ISO RGD:1348797 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 1 PMID:24581741|PMID:26601923|PMID:28492532|PMID:30554721 11681815 NDE1 nudE neurodevelopment protein 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11681815 NDE1 nudE neurodevelopment protein 1 gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:25741868|PMID:28492532 11681815 NDE1 nudE neurodevelopment protein 1 gene DOID:9009175 Visceral Myopathy 2 ISO RGD:1348797 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: VISCERAL MYOPATHY 2 | ClinVar Annotator: match by term: Visceral myopathy 2 PMID:17576681|PMID:18391202|PMID:22001912|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29543232|PMID:29907982|PMID:31389005|PMID:32238909|PMID:9536098 11681841 GSC goosecoid homeobox gene DOID:0081063 DICER1 syndrome ISO RGD:736937 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 11681841 GSC goosecoid homeobox gene DOID:630 genetic disease ISO RGD:736937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11681841 GSC goosecoid homeobox gene DOID:9007856 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities ISO RGD:736937 D RGD:7240710 20180130 OMIM 11681841 GSC goosecoid homeobox gene DOID:9007856 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities ISO RGD:736937 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities PMID:24290375|PMID:25741868|PMID:28492532|PMID:9475592 11681841 GSC goosecoid homeobox gene DOID:9008731 Craniofacial Abnormalities ISO RGD:736937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10433910 11681855 SDC3 syndecan 3 gene DOID:630 genetic disease ISO RGD:1343030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11681855 SDC3 syndecan 3 gene DOID:9970 obesity ISO RGD:1343030 D RGD:7240710 20180130 OMIM 11681855 SDC3 syndecan 3 gene DOID:9970 obesity ISO RGD:1343030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity, association with PMID:17018662 11681903 HHLA2 HHLA2 member of B7 family gene DOID:630 genetic disease ISO RGD:1350112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11681933 CD80 CD80 molecule gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:2314 D RGD:9068941 20200609 RGD PMID:10590132|REF_RGD_ID:6902938 11681933 CD80 CD80 molecule gene DOID:0060189 ileitis ISO RGD:10316 D RGD:9068941 20200609 RGD PMID:22068168|REF_RGD_ID:6902902 11681933 CD80 CD80 molecule gene DOID:10608 celiac disease ISO RGD:737082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 11681933 CD80 CD80 molecule gene DOID:1074 kidney failure ISO RGD:2314 D RGD:9068941 20200609 RGD PMID:16893502|REF_RGD_ID:6902939 11681933 CD80 CD80 molecule gene DOID:12236 primary biliary cholangitis ISO RGD:737082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21399635 11681933 CD80 CD80 molecule gene DOID:12306 vitiligo ISO RGD:737082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 11681933 CD80 CD80 molecule gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:737082 D RGD:9068941 20200609 RGD protein:increased expression:blood, B cell PMID:21310664|REF_RGD_ID:6893670 11681933 CD80 CD80 molecule gene DOID:2841 asthma ISO RGD:10316 D RGD:9068941 20200609 RGD PMID:21051864|PMID:21352203|PMID:21440530|REF_RGD_ID:5132619|REF_RGD_ID:5132620|REF_RGD_ID:5132621 11681933 CD80 CD80 molecule gene DOID:3070 high grade glioma ISO RGD:2314 D RGD:9068941 20200609 RGD PMID:10078962|REF_RGD_ID:727266 11681933 CD80 CD80 molecule gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737082 D RGD:9068941 20200609 RGD PMID:19729666|REF_RGD_ID:4892292 11681933 CD80 CD80 molecule gene DOID:3213 demyelinating disease ISO RGD:737082 D RGD:9068941 20200609 RGD protein:increased expression:blood, B cell PMID:21310664|REF_RGD_ID:6893670 11681933 CD80 CD80 molecule gene DOID:3388 periodontal disease ISO RGD:2314 D RGD:9068941 20200609 RGD PMID:10657664|REF_RGD_ID:6902937 11681933 CD80 CD80 molecule gene DOID:4483 rhinitis ISO RGD:10316 D RGD:9068941 20200609 RGD PMID:21108691|REF_RGD_ID:5132622 11681933 CD80 CD80 molecule gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:2314 D RGD:9068941 20200609 RGD PMID:10712436|REF_RGD_ID:6902936 11681933 CD80 CD80 molecule gene DOID:630 genetic disease ISO RGD:737082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11681933 CD80 CD80 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:737082 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22917707|REF_RGD_ID:6893647 11681933 CD80 CD80 molecule gene DOID:874 bacterial pneumonia ISO RGD:10316 D RGD:9068941 20200609 RGD PMID:20949109|REF_RGD_ID:4892562 11681933 CD80 CD80 molecule gene DOID:9000469 Viral Myocarditis treatment ISO RGD:10316 D RGD:9068941 20200609 RGD PMID:29039143|REF_RGD_ID:13702893 11681933 CD80 CD80 molecule gene DOID:9001488 Human Influenza ISO RGD:10316 D RGD:9068941 20200609 RGD PMID:10604996|PMID:19922665|REF_RGD_ID:5132270|REF_RGD_ID:5132623 11681933 CD80 CD80 molecule gene DOID:9002457 Experimental Arthritis ISO RGD:10316 D RGD:9068941 20200609 RGD PMID:22004797|REF_RGD_ID:6902903 11681933 CD80 CD80 molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2314 D RGD:9068941 20200609 RGD PMID:9379015|REF_RGD_ID:6902906 11681933 CD80 CD80 molecule gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10316 D RGD:9068941 20200609 RGD PMID:11160314|REF_RGD_ID:2307200 11681933 CD80 CD80 molecule gene DOID:9007356 Eczema ISO RGD:737082 D RGD:9068941 20200609 RGD DNA:SNP PMID:22192168|REF_RGD_ID:6893665 11681933 CD80 CD80 molecule gene DOID:9074 systemic lupus erythematosus ISO RGD:737082 D RGD:9068941 20200609 RGD PMID:20653937|REF_RGD_ID:6902898 11681933 CD80 CD80 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:737082 D RGD:9068941 20200609 RGD PMID:19658094|REF_RGD_ID:5132624 11681974 RHOQ ras homolog family member Q gene DOID:3883 Lynch syndrome ISO RGD:1345983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11681974 RHOQ ras homolog family member Q gene DOID:630 genetic disease ISO RGD:1345983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11681974 RHOQ ras homolog family member Q gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345983 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11681997 SESN3 sestrin 3 gene DOID:1059 intellectual disability ISO RGD:1319828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11681997 SESN3 sestrin 3 gene DOID:12704 ataxia telangiectasia ISO RGD:1319828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11681997 SESN3 sestrin 3 gene DOID:630 genetic disease ISO RGD:1319828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11681997 SESN3 sestrin 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 11682014 BTNL10P Butyrophilin-like protein 10 gene DOID:1540 parathyroid carcinoma ISO RGD:6480792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11682014 BTNL10P Butyrophilin-like protein 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:6480792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11682020 TRIM32 tripartite motif containing 32 gene DOID:0110133 Bardet-Biedl syndrome 11 ISO RGD:1313150 D RGD:7240710 20180130 OMIM 11682020 TRIM32 tripartite motif containing 32 gene DOID:0110133 Bardet-Biedl syndrome 11 ISO RGD:1313150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 11 PMID:10399877|PMID:11822024|PMID:15786463|PMID:15886712|PMID:16606853|PMID:17994549|PMID:19349376|PMID:21775502|PMID:22025579|PMID:22981120|PMID:23142638|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29921608|PMID:31624253|PMID:33296226|PMID:4269389 11682020 TRIM32 tripartite motif containing 32 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1313150 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:23541687|PMID:25351777|PMID:25741868|PMID:28492532 11682020 TRIM32 tripartite motif containing 32 gene DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H ISO RGD:1313150 D RGD:7240710 20180130 OMIM 11682020 TRIM32 tripartite motif containing 32 gene DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H ISO RGD:1313150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sarcotubular myopathy PMID:10399877|PMID:11822024|PMID:15786463|PMID:15886712|PMID:17994549|PMID:19349376|PMID:21775502|PMID:22025579|PMID:22981120|PMID:23142638|PMID:23541687|PMID:24033266|PMID:25351777|PMID:25741868|PMID:26467025|PMID:27491411|PMID:28492532|PMID:29921608|PMID:30823891|PMID:31624253|PMID:32419263|PMID:32528171|PMID:33296226|PMID:4269389 11682020 TRIM32 tripartite motif containing 32 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1313150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:24033266 11682020 TRIM32 tripartite motif containing 32 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1313150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:10399877|PMID:11822024|PMID:15786463|PMID:15886712|PMID:16606853|PMID:17994549|PMID:19349376|PMID:21775502|PMID:22025579|PMID:22981120|PMID:23142638|PMID:23541687|PMID:24033266|PMID:25351777|PMID:25741868|PMID:26467025|PMID:27491411|PMID:28492532|PMID:28812413|PMID:29921608|PMID:30564623|PMID:30823891|PMID:31624253|PMID:32419263|PMID:32528171|PMID:33296226|PMID:4269389 11682020 TRIM32 tripartite motif containing 32 gene DOID:1935 Bardet-Biedl syndrome susceptibility ISO RGD:1313150 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.P130S PMID:16606853|REF_RGD_ID:1624129 11682020 TRIM32 tripartite motif containing 32 gene DOID:423 myopathy ISO RGD:1313150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:10399877|PMID:11822024|PMID:15786463|PMID:15886712|PMID:17994549|PMID:19349376|PMID:21775502|PMID:22981120|PMID:23142638|PMID:25741868|PMID:28492532|PMID:4269389 11682020 TRIM32 tripartite motif containing 32 gene DOID:5419 schizophrenia ISO RGD:1313150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11682020 TRIM32 tripartite motif containing 32 gene DOID:630 genetic disease ISO RGD:1313150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 11682020 TRIM32 tripartite motif containing 32 gene DOID:9884 muscular dystrophy susceptibility ISO RGD:1313150 D RGD:9068941 20200609 RGD Limb-girdle muscular dystrophy type 2H, OMIM:254110;DNA:missense mutation:exon:p.D487N PMID:11822024|REF_RGD_ID:1624127 11682049 NSUN6 NOP2/Sun RNA methyltransferase 6 gene DOID:0050700 cardiomyopathy ISO RGD:1344487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28166811|PMID:28492532 11682049 NSUN6 NOP2/Sun RNA methyltransferase 6 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1344487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11682049 NSUN6 NOP2/Sun RNA methyltransferase 6 gene DOID:630 genetic disease ISO RGD:1344487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682049 NSUN6 NOP2/Sun RNA methyltransferase 6 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1344487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 11682049 NSUN6 NOP2/Sun RNA methyltransferase 6 gene DOID:9008939 Breast Neoplasms ISO RGD:1344487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 11682072 FASTKD1 FAST kinase domains 1 gene DOID:630 genetic disease ISO RGD:1606223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682072 FASTKD1 FAST kinase domains 1 gene DOID:9003605 Glaucoma 1, Open Angle, B ISO RGD:1606223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma 1, open angle, B 11682094 MFSD6L major facilitator superfamily domain containing 6 like gene DOID:630 genetic disease ISO RGD:1603890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682099 RBM10 RNA binding motif protein 10 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11682099 RBM10 RNA binding motif protein 10 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:732878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 11682099 RBM10 RNA binding motif protein 10 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:732878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11682099 RBM10 RNA binding motif protein 10 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:732878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11682099 RBM10 RNA binding motif protein 10 gene DOID:0111780 TARP syndrome ISO RGD:732878 D RGD:7240710 20180130 OMIM 11682099 RBM10 RNA binding motif protein 10 gene DOID:0111780 TARP syndrome ISO RGD:732878 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: TARP syndrome PMID:20451169|PMID:21910224|PMID:24259342|PMID:25741868|PMID:28492532|PMID:30462380|PMID:32812661|PMID:5410571 11682099 RBM10 RNA binding motif protein 10 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:732878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 11682099 RBM10 RNA binding motif protein 10 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:732878 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 11682099 RBM10 RNA binding motif protein 10 gene DOID:1059 intellectual disability ISO RGD:732878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11682099 RBM10 RNA binding motif protein 10 gene DOID:12849 autistic disorder ISO RGD:732878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11682099 RBM10 RNA binding motif protein 10 gene DOID:1324 lung cancer onset ISO RGD:732878 D RGD:9068941 20220224 RGD PMID:33219256|REF_RGD_ID:150429789 11682099 RBM10 RNA binding motif protein 10 gene DOID:3910 lung adenocarcinoma ISO RGD:732878 D RGD:9068941 20220224 RGD PMID:30955253|REF_RGD_ID:151356984 11682099 RBM10 RNA binding motif protein 10 gene DOID:3910 lung adenocarcinoma ISO RGD:732878 D RGD:9068941 20220224 RGD DNA:missense mutations, protein-truncating variants: :multiple PMID:22980975|REF_RGD_ID:11097386 11682099 RBM10 RNA binding motif protein 10 gene DOID:3910 lung adenocarcinoma ISO RGD:732878 D RGD:9068941 20220224 RGD mRNA, protein:decreased expression:lung PMID:29085465|REF_RGD_ID:151356983 11682099 RBM10 RNA binding motif protein 10 gene DOID:6000 congestive heart failure ISO RGD:631366 D RGD:9068941 20220414 RGD protein:decreased expression:heart PMID:30257214|REF_RGD_ID:151667449 11682099 RBM10 RNA binding motif protein 10 gene DOID:630 genetic disease ISO RGD:732878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15853797|PMID:28492532 11682099 RBM10 RNA binding motif protein 10 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:732878 D RGD:9068941 20220224 RGD mRNA:decreased expression:liver PMID:32572914|REF_RGD_ID:151356975 11682099 RBM10 RNA binding motif protein 10 gene DOID:9000081 Lymphatic Metastasis ISO RGD:732878 D RGD:9068941 20220224 RGD associated with lung adenocarcinoma;DNA:missense mutation:exon:p.R241C (c.763C>T) (human) PMID:30405763|REF_RGD_ID:151356993 11682099 RBM10 RNA binding motif protein 10 gene DOID:9003936 Cardiomegaly ISO RGD:631366 D RGD:9068941 20220414 RGD protein:decreased expression:heart PMID:30257214|REF_RGD_ID:151667449 11682099 RBM10 RNA binding motif protein 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11682099 RBM10 RNA binding motif protein 10 gene DOID:9256 colorectal cancer onset ISO RGD:732878 D RGD:9068941 20220224 RGD PMID:33194656|REF_RGD_ID:151356979 11682135 IL10RA interleukin 10 receptor subunit alpha gene DOID:0050589 inflammatory bowel disease ISO RGD:731000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 11682135 IL10RA interleukin 10 receptor subunit alpha gene DOID:0060017 CD3epsilon deficiency ISO RGD:731000 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11682135 IL10RA interleukin 10 receptor subunit alpha gene DOID:0060837 isolated microphthalmia 5 ISO RGD:731000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11682135 IL10RA interleukin 10 receptor subunit alpha gene DOID:0080600 COVID-19 ISO RGD:731000 D RGD:9068941 20200618 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11682135 IL10RA interleukin 10 receptor subunit alpha gene DOID:0080690 RASopathy ISO RGD:731000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11682135 IL10RA interleukin 10 receptor subunit alpha gene DOID:0081330 glycogen storage disease Ib ISO RGD:731000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 11682135 IL10RA interleukin 10 receptor subunit alpha gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:731000 D RGD:7240710 20180130 OMIM 11682135 IL10RA interleukin 10 receptor subunit alpha gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:731000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:16199547|PMID:1635567|PMID:17277165|PMID:17576681|PMID:19890111|PMID:21519361|PMID:22476154|PMID:22549091|PMID:23158016|PMID:24001973|PMID:24033266|PMID:24216686|PMID:24813381|PMID:24910257|PMID:25373860|PMID:25741868|PMID:26193622|PMID:26822028|PMID:27699570|PMID:28267044|PMID:28492532|PMID:28930861|PMID:29140941|PMID:29248579|PMID:29531467|PMID:30212871|PMID:30894704|PMID:33359885|PMID:8490660|PMID:9536098 11682135 IL10RA interleukin 10 receptor subunit alpha gene DOID:0111123 nephronophthisis 15 ISO RGD:731000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 11682135 IL10RA interleukin 10 receptor subunit alpha gene DOID:0111971 immunodeficiency 18 ISO RGD:731000 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11682135 IL10RA interleukin 10 receptor subunit alpha gene DOID:0111972 immunodeficiency 19 ISO RGD:731000 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11682135 IL10RA interleukin 10 receptor subunit alpha gene DOID:0111973 immunodeficiency 17 ISO RGD:731000 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11682135 IL10RA interleukin 10 receptor subunit alpha gene DOID:1059 intellectual disability ISO RGD:731000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11682135 IL10RA interleukin 10 receptor subunit alpha gene DOID:630 genetic disease ISO RGD:731000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11682135 IL10RA interleukin 10 receptor subunit alpha gene DOID:8778 Crohn's disease ISO RGD:731000 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 11682135 IL10RA interleukin 10 receptor subunit alpha gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:620138 D RGD:9068941 20200609 RGD PMID:12620647|REF_RGD_ID:2316323 11682135 IL10RA interleukin 10 receptor subunit alpha gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:731000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11682135 IL10RA interleukin 10 receptor subunit alpha gene DOID:9007661 Dwarfism ISO RGD:731000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11682135 IL10RA interleukin 10 receptor subunit alpha gene DOID:9146 visceral leishmaniasis ISO RGD:731000 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15716043 11682146 RPA4 replication protein A4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11682146 RPA4 replication protein A4 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1350001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:25741868 11682146 RPA4 replication protein A4 gene DOID:12849 autistic disorder ISO RGD:1350001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11682146 RPA4 replication protein A4 gene DOID:630 genetic disease ISO RGD:1350001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682152 RNF6 ring finger protein 6 gene DOID:1749 squamous cell carcinoma ISO RGD:1314509 D RGD:9068941 20200609 RGD PMID:12154016|REF_RGD_ID:1599613 11682152 RNF6 ring finger protein 6 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1314509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic PMID:12154016 11682152 RNF6 ring finger protein 6 gene DOID:5041 esophageal cancer ISO RGD:1314509 D RGD:7240710 20180418 OMIM 11682152 RNF6 ring finger protein 6 gene DOID:630 genetic disease ISO RGD:1314509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682152 RNF6 ring finger protein 6 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1314509 D RGD:9068941 20220331 RGD PMID:30496760|REF_RGD_ID:151665757 11682152 RNF6 ring finger protein 6 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1314509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11682152 RNF6 ring finger protein 6 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1314509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 11682176 PLEKHD1 pleckstrin homology and coiled-coil domain containing D1 gene DOID:630 genetic disease ISO RGD:1347482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682176 PLEKHD1 pleckstrin homology and coiled-coil domain containing D1 gene DOID:9008939 Breast Neoplasms ISO RGD:1347482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 11682193 RBM11 RNA binding motif protein 11 gene DOID:10652 Alzheimer's disease ISO RGD:1313079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 11682193 RBM11 RNA binding motif protein 11 gene DOID:630 genetic disease ISO RGD:1313079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682193 RBM11 RNA binding motif protein 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11682210 TBC1D31 TBC1 domain family member 31 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1603593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11682210 TBC1D31 TBC1 domain family member 31 gene DOID:630 genetic disease ISO RGD:1603593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682247 RAB11A RAB11A, member RAS oncogene family gene DOID:0070297 primary microcephaly ISO RGD:1343833 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:25741868 11682247 RAB11A RAB11A, member RAS oncogene family gene DOID:0110935 nemaline myopathy 6 ISO RGD:1343833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11682247 RAB11A RAB11A, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1343833 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild PMID:25741868 11682247 RAB11A RAB11A, member RAS oncogene family gene DOID:10907 microcephaly ISO RGD:1343833 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital microcephaly PMID:25741868 11682247 RAB11A RAB11A, member RAS oncogene family gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1343833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11682247 RAB11A RAB11A, member RAS oncogene family gene DOID:2717 Bloom syndrome ISO RGD:1343833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11682247 RAB11A RAB11A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1343833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11682247 RAB11A RAB11A, member RAS oncogene family gene DOID:9001341 Chloracne ISO RGD:1343833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 11682247 RAB11A RAB11A, member RAS oncogene family gene DOID:9256 colorectal cancer ISO RGD:1343833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11682256 ARHGEF39 Rho guanine nucleotide exchange factor 39 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1321248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11682256 ARHGEF39 Rho guanine nucleotide exchange factor 39 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1321248 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11682256 ARHGEF39 Rho guanine nucleotide exchange factor 39 gene DOID:0080942 anauxetic dysplasia ISO RGD:1321248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11682256 ARHGEF39 Rho guanine nucleotide exchange factor 39 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1321248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11682256 ARHGEF39 Rho guanine nucleotide exchange factor 39 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1321248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11682256 ARHGEF39 Rho guanine nucleotide exchange factor 39 gene DOID:630 genetic disease ISO RGD:1321248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682256 ARHGEF39 Rho guanine nucleotide exchange factor 39 gene DOID:684 hepatocellular carcinoma ISO RGD:1321248 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11682256 ARHGEF39 Rho guanine nucleotide exchange factor 39 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1321248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11682256 ARHGEF39 Rho guanine nucleotide exchange factor 39 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11682256 ARHGEF39 Rho guanine nucleotide exchange factor 39 gene DOID:9870 galactosemia ISO RGD:1321248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11682278 ADAM30 ADAM metallopeptidase domain 30 gene DOID:0050722 PHGDH deficiency ISO RGD:1314448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:28492532 11682278 ADAM30 ADAM metallopeptidase domain 30 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:1314448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 11682278 ADAM30 ADAM metallopeptidase domain 30 gene DOID:630 genetic disease ISO RGD:1314448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682283 USP25 ubiquitin specific peptidase 25 gene DOID:10652 Alzheimer's disease ISO RGD:1319103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 11682283 USP25 ubiquitin specific peptidase 25 gene DOID:630 genetic disease ISO RGD:1319103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682283 USP25 ubiquitin specific peptidase 25 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11682314 GYS1 glycogen synthase 1 gene DOID:0110737 neurodegeneration with brain iron accumulation 3 ISO RGD:1320086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroferritinopathy PMID:17182944|PMID:18414213|PMID:25741868|PMID:28492532 11682314 GYS1 glycogen synthase 1 gene DOID:0111076 progressive familial heart block type IB ISO RGD:1320086 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:28492532 11682314 GYS1 glycogen synthase 1 gene DOID:0111256 hyperferritinemia-cataract syndrome ISO RGD:1320086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts PMID:17182944|PMID:18414213|PMID:25741868|PMID:28492532 11682314 GYS1 glycogen synthase 1 gene DOID:1287 cardiovascular system disease severity ISO RGD:1320086 D RGD:9068941 20200609 RGD PMID:17356695|REF_RGD_ID:2313172 11682314 GYS1 glycogen synthase 1 gene DOID:630 genetic disease ISO RGD:1320086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11682314 GYS1 glycogen synthase 1 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1320086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm PMID:17182944|PMID:18414213|PMID:25741868|PMID:28492532 11682314 GYS1 glycogen synthase 1 gene DOID:9004878 L-Ferritin Deficiency ISO RGD:1320086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: L-ferritin deficiency PMID:17182944|PMID:18414213|PMID:25741868|PMID:28492532 11682314 GYS1 glycogen synthase 1 gene DOID:9005648 Glycogen Storage Disease 0, Muscle ISO RGD:1320086 D RGD:7240710 20180130 OMIM 11682314 GYS1 glycogen synthase 1 gene DOID:9005648 Glycogen Storage Disease 0, Muscle ISO RGD:1320086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GSD 0b | ClinVar Annotator: match by term: Glycogen storage disease 0, muscle | ClinVar Annotator: match by term: Muscle glycogen synthase deficiency PMID:10102713|PMID:16199547|PMID:17182944|PMID:17576681|PMID:17928598|PMID:18414213|PMID:19699667|PMID:21958591|PMID:25741868|PMID:28492532|PMID:34906502|PMID:9267990|PMID:9389424|PMID:9536098 11682314 GYS1 glycogen synthase 1 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:1320086 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:missense mutation:exon:p.M416V (human) PMID:9267990|REF_RGD_ID:2313176 11682338 SAMD8 sterile alpha motif domain containing 8 gene DOID:630 genetic disease ISO RGD:1315069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682338 SAMD8 sterile alpha motif domain containing 8 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1315069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:22077973|PMID:23436491|PMID:25424711|PMID:27880066|PMID:28492532 11682356 B3GALT4 beta-1,3-galactosyltransferase 4 gene DOID:0050553 JMP syndrome ISO RGD:1343637 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11682356 B3GALT4 beta-1,3-galactosyltransferase 4 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1343637 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 11682356 B3GALT4 beta-1,3-galactosyltransferase 4 gene DOID:630 genetic disease ISO RGD:1343637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682361 ATOSA atos homolog A gene DOID:2717 Bloom syndrome ISO RGD:1606264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11682361 ATOSA atos homolog A gene DOID:607 paraplegia ISO RGD:1606264 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 11682361 ATOSA atos homolog A gene DOID:630 genetic disease ISO RGD:1606264 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682361 ATOSA atos homolog A gene DOID:9256 colorectal cancer ISO RGD:1606264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11682385 EID1 EP300 interacting inhibitor of differentiation 1 gene DOID:2717 Bloom syndrome ISO RGD:1348426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11682385 EID1 EP300 interacting inhibitor of differentiation 1 gene DOID:630 genetic disease ISO RGD:1348426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682385 EID1 EP300 interacting inhibitor of differentiation 1 gene DOID:9003566 Mesothelioma ISO RGD:1348426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15920167 11682385 EID1 EP300 interacting inhibitor of differentiation 1 gene DOID:9256 colorectal cancer ISO RGD:1348426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11682400 STK35 serine/threonine kinase 35 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1321037 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11682400 STK35 serine/threonine kinase 35 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1321037 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11682400 STK35 serine/threonine kinase 35 gene DOID:630 genetic disease ISO RGD:1321037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682408 CCPG1 cell cycle progression 1 gene DOID:0060833 Griscelli syndrome type 2 ISO RGD:1322623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 2 PMID:28492532 11682408 CCPG1 cell cycle progression 1 gene DOID:0112216 developmental and epileptic encephalopathy 80 ISO RGD:1322623 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 80 PMID:25741868|PMID:28492532|PMID:31256876 11682408 CCPG1 cell cycle progression 1 gene DOID:2717 Bloom syndrome ISO RGD:1322623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11682408 CCPG1 cell cycle progression 1 gene DOID:630 genetic disease ISO RGD:1322623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682408 CCPG1 cell cycle progression 1 gene DOID:9256 colorectal cancer ISO RGD:1322623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11682427 VAMP4 vesicle associated membrane protein 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1320258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11682427 VAMP4 vesicle associated membrane protein 4 gene DOID:630 genetic disease ISO RGD:1320258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682427 VAMP4 vesicle associated membrane protein 4 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1320258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 11682427 VAMP4 vesicle associated membrane protein 4 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1320258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 11682427 VAMP4 vesicle associated membrane protein 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11682445 TXNL4A thioredoxin like 4A gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1347193 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11682445 TXNL4A thioredoxin like 4A gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1347193 D RGD:7240710 20180130 OMIM 11682445 TXNL4A thioredoxin like 4A gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1347193 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:1342861|PMID:14564154|PMID:16523509|PMID:25434003|PMID:25741868|PMID:28492532|PMID:34713892 11682445 TXNL4A thioredoxin like 4A gene DOID:630 genetic disease ISO RGD:1347193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682445 TXNL4A thioredoxin like 4A gene DOID:6420 pulmonary valve stenosis ISO RGD:1347193 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 11682445 TXNL4A thioredoxin like 4A gene DOID:8445 intestinal volvulus ISO RGD:1347193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11682445 TXNL4A thioredoxin like 4A gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1347193 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA | ClinVar Annotator: match by term: Oculootofacial dysplasia PMID:1342861|PMID:14564154|PMID:16523509|PMID:25434003|PMID:25741868|PMID:28492532|PMID:34713892 11682445 TXNL4A thioredoxin like 4A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11682445 TXNL4A thioredoxin like 4A gene DOID:9008419 Volvulus Of Midgut ISO RGD:1347193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11682458 ALS2CL ALS2 C-terminal like gene DOID:5419 schizophrenia ISO RGD:1605837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 11682458 ALS2CL ALS2 C-terminal like gene DOID:630 genetic disease ISO RGD:1605837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682458 ALS2CL ALS2 C-terminal like gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1605837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11682576 PUS10 pseudouridine synthase 10 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1606697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) 11682576 PUS10 pseudouridine synthase 10 gene DOID:0080485 peroxisome biogenesis disorder 11A ISO RGD:1606697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) PMID:10332040|PMID:17576681|PMID:19449432|PMID:21031596|PMID:25741868|PMID:28492532|PMID:34055681|PMID:9536098 11682576 PUS10 pseudouridine synthase 10 gene DOID:630 genetic disease ISO RGD:1606697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11682607 PRAC2 PRAC2 small nuclear protein gene DOID:630 genetic disease ISO RGD:2291822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682616 PTPRN protein tyrosine phosphatase receptor type N gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:734153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11682616 PTPRN protein tyrosine phosphatase receptor type N gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:734153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11682616 PTPRN protein tyrosine phosphatase receptor type N gene DOID:0111214 distal spinal muscular atrophy type 5 ISO RGD:734153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Young adult-onset distal hereditary motor neuropathy PMID:28492532 11682616 PTPRN protein tyrosine phosphatase receptor type N gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:734153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11682616 PTPRN protein tyrosine phosphatase receptor type N gene DOID:1148 polydactyly ISO RGD:734153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 11682616 PTPRN protein tyrosine phosphatase receptor type N gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:734153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11682616 PTPRN protein tyrosine phosphatase receptor type N gene DOID:630 genetic disease ISO RGD:734153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682616 PTPRN protein tyrosine phosphatase receptor type N gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11682616 PTPRN protein tyrosine phosphatase receptor type N gene DOID:9005643 Experimental Diabetes Mellitus severity ISO RGD:734154 D RGD:9068941 20200609 RGD PMID:19513530|REF_RGD_ID:2313594 11682616 PTPRN protein tyrosine phosphatase receptor type N gene DOID:9744 type 1 diabetes mellitus ISO RGD:620777 D RGD:9068941 20200609 RGD PMID:7568143|REF_RGD_ID:729710 11682616 PTPRN protein tyrosine phosphatase receptor type N gene DOID:9744 type 1 diabetes mellitus ISO RGD:734153 D RGD:9068941 20200609 RGD PMID:19741189|REF_RGD_ID:2313289 11682643 EMX2 empty spiracles homeobox 2 gene DOID:0050861 colorectal adenocarcinoma exacerbates ISO RGD:1322367 D RGD:9068941 20220811 RGD mRNA:decreased expression:colorectal mucosa (human) PMID:28830374|REF_RGD_ID:153323301 11682643 EMX2 empty spiracles homeobox 2 gene DOID:10534 stomach cancer ameliorates ISO RGD:1322367 D RGD:9068941 20220811 RGD human cells in mouse model PMID:23029345|REF_RGD_ID:153323292 11682643 EMX2 empty spiracles homeobox 2 gene DOID:1826 epilepsy ISO RGD:1322367 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11682643 EMX2 empty spiracles homeobox 2 gene DOID:3907 lung squamous cell carcinoma exacerbates ISO RGD:1322367 D RGD:9068941 20220812 RGD protein:decreased expression:lung (human) PMID:26132438|REF_RGD_ID:11079903 11682643 EMX2 empty spiracles homeobox 2 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1322367 D RGD:9068941 20220812 RGD mRNA,protein:decreased expression:lung (human) PMID:21726823|REF_RGD_ID:153323303 11682643 EMX2 empty spiracles homeobox 2 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1322367 D RGD:9068941 20220812 RGD protein:decreased expression:esophagus (human) PMID:31432154|REF_RGD_ID:153323302 11682643 EMX2 empty spiracles homeobox 2 gene DOID:630 genetic disease ISO RGD:1322367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682643 EMX2 empty spiracles homeobox 2 gene DOID:7474 malignant pleural mesothelioma exacerbates ISO RGD:1322367 D RGD:9068941 20220812 RGD mRNA:decreased expression:mesothelium of pleural cavity (human) PMID:25023662|REF_RGD_ID:153323312 11682643 EMX2 empty spiracles homeobox 2 gene DOID:9002739 Female Urogenital Diseases ISO RGD:1322367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 11682643 EMX2 empty spiracles homeobox 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1322367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20697358 11682643 EMX2 empty spiracles homeobox 2 gene DOID:9006637 Schizencephaly ISO RGD:1322367 D RGD:7240710 20190327 OMIM 11682643 EMX2 empty spiracles homeobox 2 gene DOID:9006637 Schizencephaly ISO RGD:1322367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizencephaly PMID:8528262|PMID:9359037 11682643 EMX2 empty spiracles homeobox 2 gene DOID:9256 colorectal cancer ameliorates ISO RGD:1322367 D RGD:9068941 20220811 RGD human cells in mouse model PMID:27712600|REF_RGD_ID:153323291 11682652 SMCR8 SMCR8-C9orf72 complex subunit gene DOID:0050777 Joubert syndrome ISO RGD:1345463 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11682652 SMCR8 SMCR8-C9orf72 complex subunit gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1345463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 11682652 SMCR8 SMCR8-C9orf72 complex subunit gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1345463 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 11682652 SMCR8 SMCR8-C9orf72 complex subunit gene DOID:12849 autistic disorder ISO RGD:1345463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11682652 SMCR8 SMCR8-C9orf72 complex subunit gene DOID:630 genetic disease ISO RGD:1345463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682652 SMCR8 SMCR8-C9orf72 complex subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11682658 BNIP3 BCL2 interacting protein 3 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1350913 D RGD:9068941 20200609 RGD PMID:14648660|REF_RGD_ID:7483575 11682658 BNIP3 BCL2 interacting protein 3 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1350913 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11682658 BNIP3 BCL2 interacting protein 3 gene DOID:224 transient cerebral ischemia ISO RGD:620800 D RGD:9068941 20200609 RGD PMID:14972662|REF_RGD_ID:2314028 11682658 BNIP3 BCL2 interacting protein 3 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:620800 D RGD:9068941 20200609 RGD PMID:25888379|REF_RGD_ID:11561985 11682658 BNIP3 BCL2 interacting protein 3 gene DOID:3525 middle cerebral artery infarction ISO RGD:620800 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17379825|REF_RGD_ID:9685412 11682658 BNIP3 BCL2 interacting protein 3 gene DOID:5327 retinal detachment ISO RGD:620800 D RGD:9068941 20200609 RGD PMID:26093278|REF_RGD_ID:11561987 11682658 BNIP3 BCL2 interacting protein 3 gene DOID:5327 retinal detachment ISO RGD:733814 D RGD:9068941 20200609 RGD PMID:26093278|REF_RGD_ID:11561987 11682658 BNIP3 BCL2 interacting protein 3 gene DOID:5844 myocardial infarction ISO RGD:620800 D RGD:9068941 20200609 RGD mRNA:increased expression:plantaris PMID:24427319|REF_RGD_ID:11557988 11682658 BNIP3 BCL2 interacting protein 3 gene DOID:6000 congestive heart failure treatment ISO RGD:620800 D RGD:9068941 20200609 RGD PMID:23508759|REF_RGD_ID:11561982 11682658 BNIP3 BCL2 interacting protein 3 gene DOID:630 genetic disease ISO RGD:1350913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682658 BNIP3 BCL2 interacting protein 3 gene DOID:783 end stage renal disease ISO RGD:620800 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:24090408|REF_RGD_ID:11561926 11682658 BNIP3 BCL2 interacting protein 3 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1350913 D RGD:9068941 20200609 RGD protein:increased expression:ileum PMID:16002567|REF_RGD_ID:11561971 11682658 BNIP3 BCL2 interacting protein 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620800 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:23637053|REF_RGD_ID:11564330 11682658 BNIP3 BCL2 interacting protein 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1350913 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11682658 BNIP3 BCL2 interacting protein 3 gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:620800 D RGD:9068941 20200609 RGD PMID:24990154|REF_RGD_ID:11561988 11682658 BNIP3 BCL2 interacting protein 3 gene DOID:9000304 Manganese Poisoning ISO RGD:1350913 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19442826 11682658 BNIP3 BCL2 interacting protein 3 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:620800 D RGD:9068941 20200609 RGD PMID:23850688|REF_RGD_ID:11561986 11682658 BNIP3 BCL2 interacting protein 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350913 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18163427 11682658 BNIP3 BCL2 interacting protein 3 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:620800 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:23698117|REF_RGD_ID:11561968 11682658 BNIP3 BCL2 interacting protein 3 gene DOID:9007480 Hyperoxia ISO RGD:620800 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina PMID:20157446|REF_RGD_ID:5128796 11682658 BNIP3 BCL2 interacting protein 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620800 D RGD:9068941 20220930 RGD protein:decreased expression:myocardium (human) PMID:28661226|REF_RGD_ID:155260328 11682658 BNIP3 BCL2 interacting protein 3 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:620800 D RGD:9068941 20200609 RGD PMID:16645637|REF_RGD_ID:11561983 11682658 BNIP3 BCL2 interacting protein 3 gene DOID:9008217 Hemorrhage ISO RGD:620800 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle PMID:21193900|REF_RGD_ID:11564331 11682658 BNIP3 BCL2 interacting protein 3 gene DOID:9538 multiple myeloma ISO RGD:1350913 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18172295 11682658 BNIP3 BCL2 interacting protein 3 gene DOID:9970 obesity ISO RGD:620800 D RGD:9068941 20200609 RGD PMID:18070754|REF_RGD_ID:2292682 11682668 CCM2 CCM2 scaffold protein gene DOID:0060669 cerebral cavernous malformation ISO RGD:1317623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation PMID:25525273|PMID:25741868|PMID:28492532 11682668 CCM2 CCM2 scaffold protein gene DOID:0060670 cerebral cavernous malformation 2 ISO RGD:1317623 D RGD:7240710 20180130 OMIM 11682668 CCM2 CCM2 scaffold protein gene DOID:0060670 cerebral cavernous malformation 2 ISO RGD:1317623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 2 PMID:14624391|PMID:14740320|PMID:15122722|PMID:16199547|PMID:17160895|PMID:17277691|PMID:17576681|PMID:18060436|PMID:18300272|PMID:19088123|PMID:19088124|PMID:19475721|PMID:20419355|PMID:23595507|PMID:24466005|PMID:2468908|PMID:24689081|PMID:25525273|PMID:25741868|PMID:26467025|PMID:27153162|PMID:27561926|PMID:27792856|PMID:28492532|PMID:28655553|PMID:30161288|PMID:32860008|PMID:35307828|PMID:9536098 11682668 CCM2 CCM2 scaffold protein gene DOID:483 cavernous hemangioma ISO RGD:1317623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cavernous hemangioma PMID:25741868 11682668 CCM2 CCM2 scaffold protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11682668 CCM2 CCM2 scaffold protein gene DOID:630 genetic disease ISO RGD:1317623 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 11682668 CCM2 CCM2 scaffold protein gene DOID:865 vasculitis ISO RGD:1317623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vasculitis PMID:25741868 11682668 CCM2 CCM2 scaffold protein gene DOID:8725 vascular dementia ISO RGD:1317623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:28492532|PMID:33268848|PMID:35307828 11682668 CCM2 CCM2 scaffold protein gene DOID:9003443 Central Nervous System Vascular Malformations susceptibility ISO RGD:1317623 D RGD:9068941 20200609 RGD DNA:deletions: ; Cerebral cavernous malformations, OMIM:603284 PMID:17160895|REF_RGD_ID:1600689 11682682 NFIC nuclear factor I C gene DOID:630 genetic disease ISO RGD:69148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682682 NFIC nuclear factor I C gene DOID:9002304 Prostatic Neoplasms ISO RGD:69148 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 11682682 NFIC nuclear factor I C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11682697 TEX50 testis expressed 50 gene DOID:3755 antithrombin III deficiency ISO RGD:12879508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 11682702 CACNA1E calcium voltage-gated channel subunit alpha1 E gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:17660294|PMID:23934111|PMID:25741868|PMID:26680202|PMID:28135719|PMID:28492532|PMID:30343943|PMID:31785789|PMID:32695065|PMID:33776624|PMID:35937981 11682702 CACNA1E calcium voltage-gated channel subunit alpha1 E gene DOID:0060239 Van der Woude syndrome ISO RGD:733702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Van der Woude syndrome 1 PMID:17660294|PMID:23934111|PMID:25741868|PMID:28492532|PMID:30343943 11682702 CACNA1E calcium voltage-gated channel subunit alpha1 E gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:733702 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:25741868 11682702 CACNA1E calcium voltage-gated channel subunit alpha1 E gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:733702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 11682702 CACNA1E calcium voltage-gated channel subunit alpha1 E gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:17660294|PMID:23934111|PMID:25741868|PMID:26680202|PMID:28135719|PMID:28492532|PMID:30343943|PMID:31785789|PMID:32695065|PMID:33776624|PMID:35937981 11682702 CACNA1E calcium voltage-gated channel subunit alpha1 E gene DOID:0112205 developmental and epileptic encephalopathy 69 ISO RGD:733702 D RGD:7240710 20190315 OMIM 11682702 CACNA1E calcium voltage-gated channel subunit alpha1 E gene DOID:0112205 developmental and epileptic encephalopathy 69 ISO RGD:733702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 69 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 PMID:17660294|PMID:23934111|PMID:25741868|PMID:28492532|PMID:30343943|PMID:32695065|PMID:33776624|PMID:34702355|PMID:34906502|PMID:35937981 11682702 CACNA1E calcium voltage-gated channel subunit alpha1 E gene DOID:1059 intellectual disability ISO RGD:733702 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11682702 CACNA1E calcium voltage-gated channel subunit alpha1 E gene DOID:1540 parathyroid carcinoma ISO RGD:733702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11682702 CACNA1E calcium voltage-gated channel subunit alpha1 E gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:733702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:28492532 11682702 CACNA1E calcium voltage-gated channel subunit alpha1 E gene DOID:4195 hyperglycemia ISO RGD:733703 D RGD:9068941 20200609 RGD PMID:11735114|REF_RGD_ID:734670 11682702 CACNA1E calcium voltage-gated channel subunit alpha1 E gene DOID:630 genetic disease ISO RGD:733702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17660294|PMID:23934111|PMID:25741868|PMID:26680202|PMID:28492532|PMID:30343943|PMID:32695065|PMID:33776624|PMID:35937981 11682702 CACNA1E calcium voltage-gated channel subunit alpha1 E gene DOID:9006462 Coma ISO RGD:733702 D RGD:8554872 20220621 ClinVar ClinVar Annotator: match by term: Episodic coma PMID:28492532 11682702 CACNA1E calcium voltage-gated channel subunit alpha1 E gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:733702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11682702 CACNA1E calcium voltage-gated channel subunit alpha1 E gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11682756 SLC35C2 solute carrier family 35 member C2 gene DOID:2234 focal epilepsy ISO RGD:1322607 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11682756 SLC35C2 solute carrier family 35 member C2 gene DOID:630 genetic disease ISO RGD:1322607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682787 ST13 ST13 Hsp70 interacting protein gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:733794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11682787 ST13 ST13 Hsp70 interacting protein gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:733794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:15706485|PMID:24476420|PMID:28492532 11682787 ST13 ST13 Hsp70 interacting protein gene DOID:630 genetic disease ISO RGD:733794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682803 RAB40C RAB40C, member RAS oncogene family gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1349011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 11682803 RAB40C RAB40C, member RAS oncogene family gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1349011 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11682803 RAB40C RAB40C, member RAS oncogene family gene DOID:1826 epilepsy ISO RGD:1349011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11682803 RAB40C RAB40C, member RAS oncogene family gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1349011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11682803 RAB40C RAB40C, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1349011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682814 HNRNPUL1 heterogeneous nuclear ribonucleoprotein U like 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1316659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11682814 HNRNPUL1 heterogeneous nuclear ribonucleoprotein U like 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1316659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11682814 HNRNPUL1 heterogeneous nuclear ribonucleoprotein U like 1 gene DOID:2340 craniosynostosis ISO RGD:1316659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11682814 HNRNPUL1 heterogeneous nuclear ribonucleoprotein U like 1 gene DOID:630 genetic disease ISO RGD:1316659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682814 HNRNPUL1 heterogeneous nuclear ribonucleoprotein U like 1 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1316659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11682814 HNRNPUL1 heterogeneous nuclear ribonucleoprotein U like 1 gene DOID:9269 maple syrup urine disease ISO RGD:1316659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11682846 TSC22D3 TSC22 domain family member 3 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1605734 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 11682846 TSC22D3 TSC22 domain family member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11682846 TSC22D3 TSC22 domain family member 3 gene DOID:0080600 COVID-19 ISO RGD:1605734 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 11682846 TSC22D3 TSC22 domain family member 3 gene DOID:12336 male infertility ISO RGD:1605734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22556341 11682846 TSC22D3 TSC22 domain family member 3 gene DOID:12849 autistic disorder ISO RGD:1605734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11682846 TSC22D3 TSC22 domain family member 3 gene DOID:2018 hyperinsulinism ISO RGD:1605734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22556341 11682846 TSC22D3 TSC22 domain family member 3 gene DOID:2519 testicular disease ISO RGD:1605734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22556341 11682846 TSC22D3 TSC22 domain family member 3 gene DOID:630 genetic disease ISO RGD:1605734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682846 TSC22D3 TSC22 domain family member 3 gene DOID:9001981 Weight Loss ISO RGD:1605734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22556341 11682867 TNFAIP1 TNF alpha induced protein 1 gene DOID:630 genetic disease ISO RGD:1346510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682867 TNFAIP1 TNF alpha induced protein 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1346510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20665664 11682878 ARPC2 actin related protein 2/3 complex subunit 2 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:1314126 D RGD:9068941 20200609 RGD mRNA:decreased expression:colonic mucosa (human) PMID:25107436|REF_RGD_ID:11049173 11682878 ARPC2 actin related protein 2/3 complex subunit 2 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1314126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11682878 ARPC2 actin related protein 2/3 complex subunit 2 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1314126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11682878 ARPC2 actin related protein 2/3 complex subunit 2 gene DOID:10325 silicosis ISO RGD:1305848 D RGD:9068941 20200609 RGD mRNA:altered expression:lung (rat) PMID:18685790|REF_RGD_ID:4893904 11682878 ARPC2 actin related protein 2/3 complex subunit 2 gene DOID:1909 melanoma ISO RGD:1314126 D RGD:9068941 20200609 RGD protein:increased expression:nevus (human) PMID:19332774|REF_RGD_ID:11049176 11682878 ARPC2 actin related protein 2/3 complex subunit 2 gene DOID:3008 invasive ductal carcinoma ISO RGD:1314126 D RGD:9068941 20200609 RGD protein:increased expression:breast (human) PMID:21136934|REF_RGD_ID:11049179 11682878 ARPC2 actin related protein 2/3 complex subunit 2 gene DOID:418 systemic scleroderma ISO RGD:1314126 D RGD:9068941 20200609 RGD protein:increased expression:saliva (human) PMID:17722226|REF_RGD_ID:11049167 11682878 ARPC2 actin related protein 2/3 complex subunit 2 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1314126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11682878 ARPC2 actin related protein 2/3 complex subunit 2 gene DOID:630 genetic disease ISO RGD:1314126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682878 ARPC2 actin related protein 2/3 complex subunit 2 gene DOID:8577 ulcerative colitis ISO RGD:1314126 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18836448 11682878 ARPC2 actin related protein 2/3 complex subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11682893 GPR150 G protein-coupled receptor 150 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343055 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11682893 GPR150 G protein-coupled receptor 150 gene DOID:630 genetic disease ISO RGD:1343055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682893 GPR150 G protein-coupled receptor 150 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1343055 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17303177 11682893 GPR150 G protein-coupled receptor 150 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11682893 GPR150 G protein-coupled receptor 150 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 11682893 GPR150 G protein-coupled receptor 150 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343055 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11682911 DPP4 dipeptidyl peptidase 4 gene DOID:0080599 Coronavirus infectious disease ISO RGD:737491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30626688 11682911 DPP4 dipeptidyl peptidase 4 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:10481 D RGD:9068941 20220825 MouseDO 11682911 DPP4 dipeptidyl peptidase 4 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:737491 D RGD:9068941 20200618 RGD PMID:30626685|REF_RGD_ID:30309198 11682911 DPP4 dipeptidyl peptidase 4 gene DOID:0080642 Middle East respiratory syndrome severity ISO RGD:737491 D RGD:9068941 20200618 RGD PMID:31838832|REF_RGD_ID:30309204 11682911 DPP4 dipeptidyl peptidase 4 gene DOID:0080642 Middle East respiratory syndrome treatment ISO RGD:737491 D RGD:9068941 20200626 RGD human gene in mouse model PMID:30256968|REF_RGD_ID:30309959 11682911 DPP4 dipeptidyl peptidase 4 gene DOID:12849 autistic disorder ISO RGD:737491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213|PMID:25741868 11682911 DPP4 dipeptidyl peptidase 4 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737491 D RGD:9068941 20220526 RGD protein:increased expression: esophagus PMID:24789592|REF_RGD_ID:152600903 11682911 DPP4 dipeptidyl peptidase 4 gene DOID:576 proteinuria ISO RGD:737491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2880436 11682911 DPP4 dipeptidyl peptidase 4 gene DOID:630 genetic disease ISO RGD:737491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682911 DPP4 dipeptidyl peptidase 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10481 D RGD:9068941 20200609 RGD PMID:19765579|REF_RGD_ID:2313699 11682911 DPP4 dipeptidyl peptidase 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737491 D RGD:9068941 20200609 RGD PMID:19705345|REF_RGD_ID:2313700 11682911 DPP4 dipeptidyl peptidase 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:10481 D RGD:9068941 20200609 RGD PMID:19073764|REF_RGD_ID:2313702 11682945 MOCS1 molybdenum cofactor synthesis 1 gene DOID:0111164 molybdenum cofactor deficiency type A ISO RGD:1318258 D RGD:7240710 20180130 OMIM 11682945 MOCS1 molybdenum cofactor synthesis 1 gene DOID:0111164 molybdenum cofactor deficiency type A ISO RGD:1318258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group A PMID:10327149|PMID:11891227|PMID:12754701|PMID:16021469|PMID:16199547|PMID:17576681|PMID:20573177|PMID:21031595|PMID:22403017|PMID:25640679|PMID:25741868|PMID:27289259|PMID:28274890|PMID:28492532|PMID:28600779|PMID:29274890|PMID:30695801|PMID:32014857|PMID:32099439|PMID:33552910|PMID:7660932|PMID:9536098|PMID:9634514|PMID:9731530|PMID:9921896 11682945 MOCS1 molybdenum cofactor synthesis 1 gene DOID:0111165 molybdenum cofactor deficiency ISO RGD:1318258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency PMID:28492532 11682945 MOCS1 molybdenum cofactor synthesis 1 gene DOID:1059 intellectual disability ISO RGD:1318258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 11682945 MOCS1 molybdenum cofactor synthesis 1 gene DOID:630 genetic disease ISO RGD:1318258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|PMID:9921896 11682945 MOCS1 molybdenum cofactor synthesis 1 gene DOID:9001753 Hypomyelinating Leukodystrophy 24 ISO RGD:1318258 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 24 PMID:12754701|PMID:16021469|PMID:16199547|PMID:25741868|PMID:28492532 11682968 PLA2G4F phospholipase A2 group IVF gene DOID:2717 Bloom syndrome ISO RGD:1606120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11682968 PLA2G4F phospholipase A2 group IVF gene DOID:630 genetic disease ISO RGD:1606120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11682968 PLA2G4F phospholipase A2 group IVF gene DOID:9256 colorectal cancer ISO RGD:1606120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11682999 RBMS1 RNA binding motif single stranded interacting protein 1 gene DOID:12849 autistic disorder ISO RGD:1317165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 11682999 RBMS1 RNA binding motif single stranded interacting protein 1 gene DOID:630 genetic disease ISO RGD:1317165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683036 CREM cAMP responsive element modulator gene DOID:11713 diabetic angiopathy ISO RGD:735941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 11683036 CREM cAMP responsive element modulator gene DOID:224 transient cerebral ischemia ISO RGD:2402 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex (rat) PMID:12437578|REF_RGD_ID:632385 11683036 CREM cAMP responsive element modulator gene DOID:3042 allergic contact dermatitis ISO RGD:735941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 11683036 CREM cAMP responsive element modulator gene DOID:5844 myocardial infarction ISO RGD:735941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19027736 11683036 CREM cAMP responsive element modulator gene DOID:630 genetic disease ISO RGD:735941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683036 CREM cAMP responsive element modulator gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11683036 CREM cAMP responsive element modulator gene DOID:9000040 Hypertrophy ISO RGD:735941 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12791704 11683036 CREM cAMP responsive element modulator gene DOID:9001341 Chloracne ISO RGD:735941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 11683036 CREM cAMP responsive element modulator gene DOID:9003936 Cardiomegaly ISO RGD:735941 D RGD:9068941 20200609 RGD PMID:15569686|REF_RGD_ID:1581291 11683114 LIN37 lin-37 DREAM MuvB core complex component gene DOID:0110222 Brugada syndrome 5 ISO RGD:1603391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11683114 LIN37 lin-37 DREAM MuvB core complex component gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1603391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11683114 LIN37 lin-37 DREAM MuvB core complex component gene DOID:543 dystonia ISO RGD:1603391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11683114 LIN37 lin-37 DREAM MuvB core complex component gene DOID:630 genetic disease ISO RGD:1603391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683130 IL24 interleukin 24 gene DOID:0050589 inflammatory bowel disease ISO RGD:1605405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 11683130 IL24 interleukin 24 gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1605405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 11683130 IL24 interleukin 24 gene DOID:12849 autistic disorder ISO RGD:1605405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11683130 IL24 interleukin 24 gene DOID:1540 parathyroid carcinoma ISO RGD:1605405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11683130 IL24 interleukin 24 gene DOID:1793 pancreatic cancer ISO RGD:1605405 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15580305 11683130 IL24 interleukin 24 gene DOID:3388 periodontal disease ISO RGD:621484 D RGD:9068941 20200609 RGD mRNA:increased expression:lymph node, T cell PMID:20618701|REF_RGD_ID:5024938 11683130 IL24 interleukin 24 gene DOID:630 genetic disease ISO RGD:1605405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683130 IL24 interleukin 24 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605405 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14678967|PMID:21671747 11683130 IL24 interleukin 24 gene DOID:9003281 Spontaneous Abortions ISO RGD:1605405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11683130 IL24 interleukin 24 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1605405 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11683130 IL24 interleukin 24 gene DOID:9005172 Lung Neoplasms ISO RGD:1605405 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12830052|PMID:15713900 11683130 IL24 interleukin 24 gene DOID:9007417 Pseudomonas Infections ISO RGD:1605405 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:19399182|REF_RGD_ID:5147421 11683130 IL24 interleukin 24 gene DOID:9008939 Breast Neoplasms ISO RGD:1605405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16298037|PMID:21671747 11683130 IL24 interleukin 24 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11683153 SYNPO2 synaptopodin 2 gene DOID:4001 ovarian carcinoma ISO RGD:1344756 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:25581431 11683153 SYNPO2 synaptopodin 2 gene DOID:630 genetic disease ISO RGD:1344756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683153 SYNPO2 synaptopodin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11683173 FAM167A family with sequence similarity 167 member A gene DOID:0111109 maturity-onset diabetes of the young type 11 ISO RGD:1344184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 11 PMID:19667185 11683173 FAM167A family with sequence similarity 167 member A gene DOID:630 genetic disease ISO RGD:1344184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683173 FAM167A family with sequence similarity 167 member A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1344540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:0050486 exanthem ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16096327 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:0050589 inflammatory bowel disease treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:12184521|REF_RGD_ID:10450573 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:0050854 Muckle-Wells syndrome ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:22146561|REF_RGD_ID:6906895 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:0060496 respiratory allergy ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:12663678|REF_RGD_ID:4143222 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:15258192|REF_RGD_ID:8549793 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:0080162 lupus nephritis resistance ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic; protein:increased expression:serum (human) PMID:20538031|REF_RGD_ID:6907068 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:0080178 mucositis ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20844880 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1344540 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with morbid obesity, protein:increased expression:serum (human) PMID:22027586|REF_RGD_ID:14401582 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:0080474 pustular psoriasis 14 ISO RGD:1344540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized pustular psoriasis PMID:19494218|PMID:21792839|PMID:22940634|PMID:23698098|PMID:26100510|PMID:28492532 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:0080600 COVID-19 ISO RGD:1344540 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*1 (human) PMID:17258699|REF_RGD_ID:6907128 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:7736749|REF_RGD_ID:8551826 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:0081120 Graves ophthalmopathy severity ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:12186498|REF_RGD_ID:7387296 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:0081120 Graves ophthalmopathy susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:snp:exon:11100 C>T (rs315952) (human) PMID:19702713|REF_RGD_ID:8549808 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:0081267 graft-versus-host disease ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:8049450|REF_RGD_ID:6909143 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:10126 keratoconus susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:snp:intron:c.214+242C>T (human) PMID:23462747|REF_RGD_ID:8549797 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:10140 dry eye syndrome ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:tears (human) PMID:20508732|REF_RGD_ID:8551707 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:10247 pleurisy ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:8491511|REF_RGD_ID:4143233 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:10325 silicosis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:11264025|REF_RGD_ID:4142816 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:10325 silicosis treatment ISO RGD:621159 D RGD:9068941 20200609 RGD PMID:23842733|REF_RGD_ID:8551847 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:10327 anthracosis ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20005085 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:10459 common cold ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:18279051|REF_RGD_ID:4143207 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:10459 common cold ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucus PMID:10358201|REF_RGD_ID:4143183 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:10533 viral pneumonia ISO RGD:1344540 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:10534 stomach cancer ISO RGD:1344540 D RGD:7240710 20220209 OMIM 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:10591 pre-eclampsia ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21126355|REF_RGD_ID:6906962 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:106 pleural tuberculosis ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeat (human) PMID:10377182|REF_RGD_ID:4143226 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:10763 hypertension ISO RGD:621159 D RGD:9068941 20200609 RGD PMID:11585563|REF_RGD_ID:1626668 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:10763 hypertension susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:11840488|REF_RGD_ID:1626667 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:19489682|REF_RGD_ID:6907081 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup multiple (human) PMID:16698387|REF_RGD_ID:6907367 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:9186886|REF_RGD_ID:6909151 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:11204 allergic conjunctivitis treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:10549671|REF_RGD_ID:8549802 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:11382 corneal neovascularization treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in mouse model PMID:10359324|REF_RGD_ID:8549790 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:11382 corneal neovascularization treatment ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:12202509|REF_RGD_ID:8549796 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:11394 adult respiratory distress syndrome ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:8810593|REF_RGD_ID:4143190 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:11394 adult respiratory distress syndrome ISO RGD:621159 D RGD:9068941 20200609 RGD PMID:22810359|REF_RGD_ID:6909177 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:11394 adult respiratory distress syndrome disease_progression ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:8686976|REF_RGD_ID:4143191 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:11400 pyelonephritis ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:urine (human) PMID:8640042|REF_RGD_ID:6907372 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:11446 sciatic neuropathy ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:12574433|REF_RGD_ID:7175064 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:11476 osteoporosis treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in a rat model PMID:8182127|REF_RGD_ID:8551834 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:11573 listeriosis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:8855299|REF_RGD_ID:11522760 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:11650 bronchopulmonary dysplasia ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15539764|REF_RGD_ID:4143172 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:11650 bronchopulmonary dysplasia susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Premature Birth;DNA:polymorphism:: PMID:22882323|REF_RGD_ID:12910846 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:11656 cicatricial pemphigoid ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:11448121|REF_RGD_ID:8549794 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:11713 diabetic angiopathy ISO RGD:1344540 D RGD:7240710 20180130 OMIM 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:11713 diabetic angiopathy ISO RGD:1344540 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 4 PMID:25741868|PMID:28492532 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:1184 nephrotic syndrome ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*1, IL1RN*2 (human) PMID:14758530|REF_RGD_ID:6907374 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:11981 morbid obesity ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11889184|REF_RGD_ID:1626666 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:12373296|REF_RGD_ID:6909171 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased concentration:serum (human) PMID:9802632|REF_RGD_ID:6909134 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:12849 autistic disorder ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11803234 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:1287 cardiovascular system disease ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29114965 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:12894 Sjogren's syndrome ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:9646842|REF_RGD_ID:8549786 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:12894 Sjogren's syndrome ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:conjunctiva (human) PMID:11527941|REF_RGD_ID:8549807 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:13139 crescentic glomerulonephritis treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in a rat model PMID:7637259|REF_RGD_ID:8551712 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:13189 gout ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18403674 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:13241 Behcet's disease ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14600787|REF_RGD_ID:7401213 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:13250 diarrhea ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20844880 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:13406 pulmonary sarcoidosis ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:8239179|REF_RGD_ID:4143198 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:1407 anterior uveitis ISO RGD:1344540 D RGD:9068941 20200609 RGD human gene in rabbit model PMID:19693263|REF_RGD_ID:8551704 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:14115 toxic shock syndrome susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphism:: PMID:23014359|REF_RGD_ID:11522756 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:14115 toxic shock syndrome treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:15516267|REF_RGD_ID:8551736 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:14654 prostatitis ISO RGD:733437 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland (mouse) PMID:21681776|REF_RGD_ID:6906929 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:1485 cystic fibrosis ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:decreased expression:blood, neutrophil PMID:12547728|REF_RGD_ID:4143175 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:1485 cystic fibrosis ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:10515411|REF_RGD_ID:4143181 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:1532 pleural disease ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:alveolar macrophage PMID:8325116|REF_RGD_ID:4143201 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:1596 depressive disorder ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Status Epilepticus; rat model treated with human protein PMID:22427156|REF_RGD_ID:7174694 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:178 vascular disease ISO RGD:1344540 D RGD:9068941 20200609 RGD mouse model treated with human protein; associated with Diabetes Mellitus, Type 2 PMID:22081301|REF_RGD_ID:6906924 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:1824 status epilepticus ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19010416 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:1909 melanoma ISO RGD:1344540 D RGD:9068941 20200609 RGD mouse model treated with human protein PMID:8168095|REF_RGD_ID:6909140 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:224 transient cerebral ischemia ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in a rat model PMID:20412072|REF_RGD_ID:8551852 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:224 transient cerebral ischemia ISO RGD:621159 D RGD:9068941 20200609 RGD PMID:15837124|REF_RGD_ID:1626674 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:2316 brain ischemia ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9236716 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:2377 multiple sclerosis ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25458313 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:2799 bronchiolitis obliterans ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11889437|REF_RGD_ID:4143176 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:2841 asthma ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9176529 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:2841 asthma ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:16724092|PMID:18763028|REF_RGD_ID:4142802|REF_RGD_ID:4143209 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:2841 asthma ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA, protein:repeat, decreased expression (human) PMID:11027520|REF_RGD_ID:4143224 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:2841 asthma severity ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:10843772|REF_RGD_ID:4143225 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:2841 asthma susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:SNP: :rs2234678 (human) PMID:17107994|REF_RGD_ID:4143208 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:2841 asthma susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:15020290|REF_RGD_ID:4143216 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:2841 asthma susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:SNPs: :rs447713, rs3087271 (human) PMID:16409203|REF_RGD_ID:4143163 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:2841 asthma susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:18926055|REF_RGD_ID:4142864 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:285 hairy cell leukemia treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:9613675|REF_RGD_ID:11522762 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:289 endometriosis ISO RGD:1344540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometriosis 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:2921 glomerulonephritis ISO RGD:1344540 D RGD:9068941 20200609 RGD mouse model treated with human protein PMID:22241891|REF_RGD_ID:6906885 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:2921 glomerulonephritis ISO RGD:733437 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (mouse) PMID:21304992|REF_RGD_ID:6906960 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1344540 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:12837270|PMID:16519819|PMID:19729864|PMID:20842532|PMID:21279638|PMID:22032624|PMID:24033266|PMID:24863340|PMID:25501066|PMID:25741868|PMID:28236224|PMID:28492532 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:2942 bronchiolitis ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:8608647|REF_RGD_ID:4143192 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:2957 pulmonary tuberculosis ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:14619382|REF_RGD_ID:4143174 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:2957 pulmonary tuberculosis ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:lung, serum PMID:10543265|REF_RGD_ID:4143180 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:2957 pulmonary tuberculosis severity ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:10631206|REF_RGD_ID:4143179 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:2986 IgA glomerulonephritis ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:10916103|REF_RGD_ID:6906961 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:2986 IgA glomerulonephritis ISO RGD:1344540 D RGD:9068941 20200609 RGD mouse model treated with human protein PMID:9370186|REF_RGD_ID:6909150 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:2986 IgA glomerulonephritis ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:decreased expression:serum, urine (human) PMID:16209246|REF_RGD_ID:6907414 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:2986 IgA glomerulonephritis ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:10079261|REF_RGD_ID:6909131 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:2986 IgA glomerulonephritis ISO RGD:1344540 D RGD:9068941 20200609 RGD response to immunoglobulin therapy PMID:9844059|REF_RGD_ID:6909132 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:2986 IgA glomerulonephritis ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:10566895|REF_RGD_ID:6907427 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:2986 IgA glomerulonephritis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphisms:intron, 3' utr:IVS1+1890G>T, IVS1+8796A>G, *138C>G (rs928940, rs439154, rs315951) (human) PMID:19280228|REF_RGD_ID:6907082 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:3021 acute kidney failure ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Asphyxia; rat model treated with human protein PMID:16259926|REF_RGD_ID:6907369 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:3021 acute kidney failure ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Sepsis PMID:16763508|REF_RGD_ID:6907360 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:3021 acute kidney failure ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:14610321|REF_RGD_ID:6907375 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:3082 interstitial lung disease ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;protein:increased expression:plasma PMID:20404807|REF_RGD_ID:4142853 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:3082 interstitial lung disease ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:alveolar macrophage PMID:8342915|REF_RGD_ID:4143199 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:19291375|REF_RGD_ID:4142861 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:18364273|REF_RGD_ID:4142868 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:18579366|REF_RGD_ID:4142866 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human gene in a rat model PMID:7790404|REF_RGD_ID:8551708 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:37 skin disease ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338|PMID:7706905 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:3770 pulmonary fibrosis ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18403674 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:3770 pulmonary fibrosis ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:7767546|REF_RGD_ID:4143194 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:3770 pulmonary fibrosis disease_progression ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:17056243|REF_RGD_ID:4142874 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:3770 pulmonary fibrosis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:10934117|REF_RGD_ID:4143177 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:3904 bronchus carcinoma ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression, alternative forms:lung PMID:8030748|REF_RGD_ID:4143231 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:16126303|REF_RGD_ID:4143167 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:4195 hyperglycemia ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1; protein:decreased expression:urine (human) PMID:12679866|REF_RGD_ID:6907426 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:4371 Schnitzler syndrome ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16096327 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:4371 Schnitzler syndrome susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:16096327|REF_RGD_ID:11522758 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:4450 renal cell carcinoma ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:17031403|REF_RGD_ID:6907413 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:4483 rhinitis ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:15178892|REF_RGD_ID:4143215 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:4483 rhinitis ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Hypersensitivity PMID:10224452|REF_RGD_ID:4143227 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:4483 rhinitis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Hypersensitivity;DNA:repeat:intron (human) PMID:14533660|REF_RGD_ID:4142859 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:621159 D RGD:9068941 20200609 RGD PMID:20071465|REF_RGD_ID:4145614 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:5199 ureteral obstruction ISO RGD:1344540 D RGD:9068941 20200609 RGD mouse model treated with human protein PMID:21975862|REF_RGD_ID:6906925 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:5199 ureteral obstruction ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:11123344|REF_RGD_ID:6909121 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:552 pneumonia ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:16369129|REF_RGD_ID:4143213 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:552 pneumonia ISO RGD:1344540 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:552 pneumonia ISO RGD:621159 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchioalveolar lavage fluid, neutrophil (rat) PMID:1385928|REF_RGD_ID:8551846 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:552 pneumonia ISO RGD:733437 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17569781|REF_RGD_ID:4142871 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:552 pneumonia disease_progression ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:18838927|REF_RGD_ID:4142865 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:552 pneumonia no_association ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:19900796|REF_RGD_ID:4143204 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:557 kidney disease ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9370186 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:576 proteinuria ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9370186 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:576 proteinuria ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Glomerulonephritis, IGA; DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:12138282|REF_RGD_ID:6909118 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:5844 myocardial infarction ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18474815|PMID:19005744 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:630 genetic disease ISO RGD:1344540 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:631 fibromyalgia severity ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:10341365|REF_RGD_ID:8549787 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:633 myositis ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10886238 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:633 myositis ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle (human) PMID:18251582|REF_RGD_ID:8549795 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:6432 pulmonary hypertension ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:7946395|REF_RGD_ID:4143197 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:6713 cerebrovascular disease ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29114965 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:684 hepatocellular carcinoma ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:7148 rheumatoid arthritis ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19192274|PMID:7706905 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:7148 rheumatoid arthritis ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:19447938|REF_RGD_ID:7174696 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:7148 rheumatoid arthritis ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:10637275|REF_RGD_ID:8549810 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:783 end stage renal disease ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:g.14709C>T rs315952 (human) PMID:12837270|REF_RGD_ID:6907105 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:783 end stage renal disease ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:IVS6+327A>G rs452204 (human) PMID:20551628|REF_RGD_ID:6907070 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:783 end stage renal disease ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:16556139|REF_RGD_ID:6907368 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:783 end stage renal disease disease_progression ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:17224277|REF_RGD_ID:6907131 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:783 end stage renal disease susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*1 (human) PMID:16766392|REF_RGD_ID:6907370 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:784 chronic kidney disease ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:23024164|REF_RGD_ID:6906880 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:784 chronic kidney disease susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*1 (human) PMID:22795294|REF_RGD_ID:6906881 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:824 periodontitis ISO RGD:1344540 D RGD:9068941 20200609 RGD mRNA:increased expression:gingiva PMID:22795294|REF_RGD_ID:6906881 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:824 periodontitis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic;DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:22795294|REF_RGD_ID:6906881 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:8552 chronic myeloid leukemia severity ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:7949186|REF_RGD_ID:10450889 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:8577 ulcerative colitis ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:8119534|REF_RGD_ID:6909136 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:874 bacterial pneumonia ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:18322242|PMID:18596024|REF_RGD_ID:4143205|REF_RGD_ID:4143206 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:8924 autoimmune thrombocytopenic purpura susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:: PMID:20626741|REF_RGD_ID:11528541 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:8927 learning disability ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25665855 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:8927 learning disability ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:10751560|REF_RGD_ID:7175060 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:decreased expression:urine (human) PMID:9090470|REF_RGD_ID:6909172 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9000039 Spinal Cord Injuries ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:17964877|REF_RGD_ID:6907102 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9000039 Spinal Cord Injuries ISO RGD:621159 D RGD:9068941 20200609 RGD PMID:16038625|REF_RGD_ID:1626673 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9000099 Experimental Colitis treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in a rat model PMID:8978354|REF_RGD_ID:8551835 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9000217 Stomach Neoplasms ISO RGD:1344540 D RGD:9068941 20220217 CTD CTD Direct Evidence: marker/mechanism 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9000325 Abscess severity ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in a rat model PMID:8872492|REF_RGD_ID:8551794 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:22679224|REF_RGD_ID:7051590 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9000641 Pain ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15317861 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14754758 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:14754758|REF_RGD_ID:4143217 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9000784 Fibrosis ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7637259 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:621159 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:22782699|REF_RGD_ID:6909178 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9000972 Fever ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16096327 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9000972 Fever ISO RGD:621159 D RGD:9068941 20200609 RGD PMID:16455768|REF_RGD_ID:1626671 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9000998 Brain Injuries ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25665855 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9001020 Eye Manifestations ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;protein:increased expression:serum (human) PMID:9152064|REF_RGD_ID:8549789 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9001039 Leukocytosis ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Meningitis, Listeria; PMID:10085034|REF_RGD_ID:11522759 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9001109 Anorexia ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25392278 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9001109 Anorexia ISO RGD:621159 D RGD:9068941 20200609 RGD associated with Adenocarcinoma;mRNA:increased expression:cerebral cortex, hypothalamus (rat) PMID:9688694|REF_RGD_ID:8551744 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9001142 Drug-Induced Agranulocytosis ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Leukemia;protein:decreased expression:serum: PMID:8698137|REF_RGD_ID:11528539 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9001164 Proctocolitis ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased concentration:serum (human) PMID:9802632|REF_RGD_ID:6909134 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9001310 Tobacco Use Disorder treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Graves Ophthalmopathy PMID:10792346|REF_RGD_ID:8549806 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9001462 Meibomian Gland Dysfunction ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:tears (human) PMID:20508732|REF_RGD_ID:8551707 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9001488 Human Influenza ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:9439800|REF_RGD_ID:4143228 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9001488 Human Influenza disease_progression ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20840779|REF_RGD_ID:4143203 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9001831 Lichen Sclerosus et Atrophicus severity ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:7927338|REF_RGD_ID:6909135 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9002159 Liver Reperfusion Injury ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:9000676|REF_RGD_ID:6909138 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:621159 D RGD:9068941 20200609 RGD PMID:12451245|REF_RGD_ID:8551710 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:17286233|REF_RGD_ID:6909120 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:16174285|REF_RGD_ID:6907371 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9002211 Hyperalgesia ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15317861|PMID:17174526|PMID:20937348|PMID:8864563 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9002211 Hyperalgesia ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Arthritis, Experimental; rat model treated with human protein PMID:22933159|REF_RGD_ID:6909175 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9002211 Hyperalgesia ISO RGD:621159 D RGD:9068941 20200609 RGD PMID:23092240|REF_RGD_ID:6909165 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9002211 Hyperalgesia severity ISO RGD:621159 D RGD:9068941 20200609 RGD PMID:10903985|REF_RGD_ID:8549800 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9002211 Hyperalgesia treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:17959986|REF_RGD_ID:7401210 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:10870116|REF_RGD_ID:11522755 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16106254|PMID:16284379 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:733437 D RGD:9068941 20200609 RGD mouse gene in a rat model PMID:15795329|REF_RGD_ID:8551728 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9002457 Experimental Arthritis ISO RGD:1344540 D RGD:9068941 20200609 RGD mouse model treated with human protein PMID:23006786|REF_RGD_ID:6907376 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9002457 Experimental Arthritis ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:15270736|REF_RGD_ID:1626677 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9002457 Experimental Arthritis ISO RGD:621159 D RGD:9068941 20200609 RGD mRNA:increased expression:popliteal lymph node (rat) PMID:10921508|REF_RGD_ID:8551741 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9002457 Experimental Arthritis ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:22267332|REF_RGD_ID:8549801 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human gene in a rat model PMID:12727108|REF_RGD_ID:8551745 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9002676 Cerebral Hemorrhage ISO RGD:621159 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum (rat) PMID:22707991|REF_RGD_ID:6997504 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human gene in a rat model PMID:14753487|REF_RGD_ID:8551833 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in a rat model PMID:7593560|REF_RGD_ID:8551836 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9002847 Serositis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic; DNA:repeats, haplotype:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:17596285|REF_RGD_ID:5508454 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9002906 Multiple Organ Failure ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:19241361|REF_RGD_ID:6907089 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9002906 Multiple Organ Failure ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Wounds and Injuries;protein:increased expression:plasma PMID:10670873|REF_RGD_ID:4143178 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9002928 Colonic Neoplasms ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18987561 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9003223 Corneal Graft Rejection ISO RGD:1344540 D RGD:9068941 20200609 RGD human gene in a rat model PMID:23723965|REF_RGD_ID:9684950 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9003311 Urinary Calculi susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats, haplotype:intron:IVS2+914_1000dup IL1RN*1, IL1RN*2 IL1RN*3 (human) PMID:18186699|REF_RGD_ID:6907399 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:haplotype::rs2232354(human) PMID:17413037|REF_RGD_ID:11528540 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9004283 Transplant Rejection treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD cornea transplant; human protein in a mouse model PMID:9175817|REF_RGD_ID:8549799 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9004462 Atrophy ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7637259 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9004484 Sepsis ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:8196140|REF_RGD_ID:6909139 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9004484 Sepsis ISO RGD:621159 D RGD:9068941 20200609 RGD mRNA:increased expression:pituitary gland (rat) PMID:10048466|REF_RGD_ID:7175061 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9004484 Sepsis ISO RGD:733437 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:20454520|REF_RGD_ID:4142852 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9004484 Sepsis disease_progression ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats: : PMID:11876758|REF_RGD_ID:11528543 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9004484 Sepsis severity ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:17014550|REF_RGD_ID:6907358 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9004484 Sepsis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Premature Birth;DNA:polymorphism:: PMID:22882323|REF_RGD_ID:12910846 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27567548 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9004590 Acute Liver Failure ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20644519 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9004590 Acute Liver Failure ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human gene-expressing stem cells PMID:22844472|REF_RGD_ID:6909176 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9004610 Acute Lung Injury ISO RGD:621159 D RGD:9068941 20200609 RGD PMID:8613550|REF_RGD_ID:4143193 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9004610 Acute Lung Injury ISO RGD:621159 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15970097|REF_RGD_ID:4143168 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9004960 Chronic Anterior Uveitis severity ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:snp:exon:g.2018T>C (human) PMID:17005410|REF_RGD_ID:8549792 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:21890879|REF_RGD_ID:6771361 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9005372 Inflammation ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25665855 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9005372 Inflammation ISO RGD:621159 D RGD:9068941 20200609 RGD associated with Hypersensitivity, Delayed;protein:increased expression:brain, plasma PMID:15050649|REF_RGD_ID:1626679 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1344540 D RGD:9068941 20200609 RGD human gene in a rat model PMID:17221214|REF_RGD_ID:8551855 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:19545727|PMID:8037760|REF_RGD_ID:6907397|REF_RGD_ID:6907425 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in mouse model PMID:16009838|REF_RGD_ID:8549788 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9005749 Necrosis ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1838896|PMID:20644519 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9005930 Endotoxemia ISO RGD:621159 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, spleen, liver (rat) PMID:1385928|REF_RGD_ID:8551846 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9005930 Endotoxemia treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:8855299|REF_RGD_ID:11522760 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9006182 Carotid Artery Injuries ISO RGD:1344540 D RGD:9068941 20200609 RGD human gene in rat model PMID:12754378|REF_RGD_ID:2316108 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1344540 D RGD:9068941 20200609 RGD mouse model treated with human protein PMID:9555664|REF_RGD_ID:6909149 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:18363573|REF_RGD_ID:6907101 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:16849996|REF_RGD_ID:6907359 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9006358 Postoperative Cognitive Dysfunction treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in a rat model PMID:23077050|REF_RGD_ID:8551854 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9006771 Chronic Rhinosinusitis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup I/II alleles (human) PMID:16549749|REF_RGD_ID:8549791 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1344540 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9006890 Chronic Uveitis ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor (human) PMID:10694897|REF_RGD_ID:8549804 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:SNP: :c.390T>C (rs315952) (human) PMID:19258923|REF_RGD_ID:4142862 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9006966 Pseudomonas Aeruginosa Keratitis ISO RGD:733437 D RGD:9068941 20200609 RGD mRNA:increased expression:cornea (mouse) PMID:9423885|REF_RGD_ID:8549805 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9006966 Pseudomonas Aeruginosa Keratitis treatment ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:11895986|REF_RGD_ID:7401195 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9007096 Stroke ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9007096 Stroke ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:22781338|REF_RGD_ID:6909180 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9007151 Deficiency of Interleukin-1 Receptor Antagonist ISO RGD:1344540 D RGD:7240710 20180606 OMIM 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9007151 Deficiency of Interleukin-1 Receptor Antagonist ISO RGD:1344540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis PMID:12837270|PMID:16519819|PMID:17576681|PMID:19280228|PMID:19494218|PMID:19494219|PMID:19729864|PMID:20213597|PMID:20842532|PMID:21279638|PMID:21792839|PMID:22032624|PMID:22127713|PMID:22940634|PMID:23698098|PMID:24033266|PMID:24863340|PMID:25501066|PMID:25741868|PMID:26100510|PMID:28236224|PMID:28492532|PMID:32819369|PMID:9536098 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9007346 Cachexia ISO RGD:621159 D RGD:9068941 20200609 RGD associated with Inflammation PMID:15005009|REF_RGD_ID:1626680 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9007417 Pseudomonas Infections ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:8327288|REF_RGD_ID:4143202 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs2234663 (human) PMID:23461376|REF_RGD_ID:11051970 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:22649318|REF_RGD_ID:7174360 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9007896 Sclerosis ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7637259 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9007956 Febrile Seizures ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:16393156|REF_RGD_ID:1626672 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9007964 Arsenic Poisoning ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9008413 Oligoanuria ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Hemolytic-Uremic Syndrome; protein:increased expression:blood (human) PMID:10603133|REF_RGD_ID:6909130 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:16899778|REF_RGD_ID:8549803 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9008511 Extravasation of Diagnostic and Therapeutic Materials ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7706905 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9008609 Endotoxin-Induced Uveitis ISO RGD:621159 D RGD:9068941 20200609 RGD mRNA:increased expression:uvea, retina (rat) PMID:7928184|REF_RGD_ID:8551705 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9008609 Endotoxin-Induced Uveitis susceptibility ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:22267332|REF_RGD_ID:8549801 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9074 systemic lupus erythematosus ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:g.14709C>T rs315952 (human) PMID:17176440|REF_RGD_ID:6907356 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9074 systemic lupus erythematosus ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:20805419|REF_RGD_ID:6906963 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9352 type 2 diabetes mellitus disease_progression ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X; DNA:snp:intron:IVS3+102A>G rs3213448 (human) PMID:21205020|REF_RGD_ID:7175255 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:8786086|REF_RGD_ID:6907412 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2, IL1RN*3 (human) PMID:17069782|REF_RGD_ID:6907409 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9498 pulmonary eosinophilia ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:Bronchoalveolar lavage: PMID:24706315|REF_RGD_ID:11528542 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9538 multiple myeloma ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:snp: :11100C>T (human) PMID:17926179|REF_RGD_ID:11051973 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9538 multiple myeloma no_association ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron: PMID:10848780|REF_RGD_ID:11522764 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9588 encephalitis ISO RGD:621159 D RGD:9068941 20200609 RGD protein:increased expression:right hippocampus, plasma (rat) PMID:15020061|REF_RGD_ID:8551849 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9744 type 1 diabetes mellitus ISO RGD:1344540 D RGD:9068941 20200609 RGD mouse model treated with human protein PMID:9158104|REF_RGD_ID:6907407 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9744 type 1 diabetes mellitus ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9112337|REF_RGD_ID:6907403 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:986 alopecia areata severity ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:8077705|REF_RGD_ID:6909137 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9938 dacryocystitis treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:24068863|REF_RGD_ID:8551706 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9970 obesity ISO RGD:1344540 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:adipose tissue PMID:12716739|REF_RGD_ID:1626665 11683174 IL1RN interleukin 1 receptor antagonist gene DOID:9970 obesity ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:12975454|REF_RGD_ID:1626664 11683190 KLHL18 kelch like family member 18 gene DOID:630 genetic disease ISO RGD:1351976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683190 KLHL18 kelch like family member 18 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1351976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11683190 KLHL18 kelch like family member 18 gene DOID:9008051 Luscan-Lumish Syndrome ISO RGD:1351976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Luscan-Lumish syndrome PMID:28492532 11683207 ZNF354B zinc finger protein 354B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1346578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11683207 ZNF354B zinc finger protein 354B gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1346578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11683207 ZNF354B zinc finger protein 354B gene DOID:0112103 Sotos syndrome 1 ISO RGD:1346578 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11683207 ZNF354B zinc finger protein 354B gene DOID:630 genetic disease ISO RGD:1346578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683216 NOL11 nucleolar protein 11 gene DOID:630 genetic disease ISO RGD:1603676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683216 NOL11 nucleolar protein 11 gene DOID:9008086 Developmental Disabilities ISO RGD:1603676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:28942966 11683238 MTM1 myotubularin 1 gene DOID:0050760 X-linked myopathy with excessive autophagy ISO RGD:1312103 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 11683238 MTM1 myotubularin 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1312103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11683238 MTM1 myotubularin 1 gene DOID:0111217 autosomal dominant centronuclear myopathy ISO RGD:1312103 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:25741868|PMID:28492532 11683238 MTM1 myotubularin 1 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:1312103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:10063835|PMID:10215413|PMID:10449925|PMID:10502779|PMID:10714588|PMID:10726846|PMID:10790201|PMID:10900271|PMID:11456308|PMID:11552027|PMID:11793470|PMID:12031625|PMID:12118066|PMID:12467733|PMID:12522554|PMID:12646134|PMID:12707446|PMID:12859411|PMID:15725586|PMID:15811014|PMID:15883335|PMID:16199547|PMID:17005396|PMID:17537630|PMID:17576681|PMID:17973976|PMID:18358876|PMID:18414213|PMID:18817572|PMID:19084976|PMID:20301605|PMID:20358311|PMID:20434914|PMID:21135508|PMID:22068590|PMID:22520358|PMID:22968136|PMID:23071445|PMID:2352255|PMID:23818870|PMID:23917616|PMID:24033266|PMID:24381816|PMID:25640679|PMID:25741868|PMID:25957634|PMID:26338224|PMID:26467025|PMID:26898940|PMID:26938784|PMID:27017278|PMID:27363342|PMID:28007904|PMID:28492532|PMID:28685322|PMID:29567349|PMID:30047259|PMID:30232666|PMID:30241883|PMID:30884204|PMID:30902907|PMID:31541013|PMID:32805447|PMID:33164942|PMID:34011573|PMID:34782754|PMID:7611280|PMID:8640223|PMID:9199578|PMID:9285787|PMID:9305655|PMID:9450905|PMID:9536098|PMID:9829274|PMID:9851444|PMID:9858861 11683238 MTM1 myotubularin 1 gene DOID:12849 autistic disorder ISO RGD:1312103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11683238 MTM1 myotubularin 1 gene DOID:14717 centronuclear myopathy ISO RGD:1312103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Centronuclear myopathy PMID:18414213 11683238 MTM1 myotubularin 1 gene DOID:422 congenital structural myopathy ISO RGD:1312103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY 1 PMID:12118066|PMID:17005396|PMID:19084976|PMID:25741868|PMID:25957634|PMID:28492532|PMID:9285787 11683238 MTM1 myotubularin 1 gene DOID:423 myopathy ISO RGD:1312103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:32581362 11683238 MTM1 myotubularin 1 gene DOID:607 paraplegia ISO RGD:1312103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10790201|PMID:11793470|PMID:12646134|PMID:17973976|PMID:18414213|PMID:21135508|PMID:22520358|PMID:23071445|PMID:23917616|PMID:25741868|PMID:26338224|PMID:28492532|PMID:32805447|PMID:9285787|PMID:9305655 11683238 MTM1 myotubularin 1 gene DOID:630 genetic disease ISO RGD:1312103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10502779|PMID:10714588|PMID:10900271|PMID:11793470|PMID:12031625|PMID:12118066|PMID:17537630|PMID:18414213|PMID:2352255|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28685322|PMID:8640223 11683238 MTM1 myotubularin 1 gene DOID:8488 polyhydramnios ISO RGD:1312103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyhydramnios PMID:25741868 11683238 MTM1 myotubularin 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1312103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868 11683304 TNFAIP2 TNF alpha induced protein 2 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1312234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11683304 TNFAIP2 TNF alpha induced protein 2 gene DOID:630 genetic disease ISO RGD:1312234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683304 TNFAIP2 TNF alpha induced protein 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1312234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 11683304 TNFAIP2 TNF alpha induced protein 2 gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1312234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 11683319 PKP3 plakophilin 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1319304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11683319 PKP3 plakophilin 3 gene DOID:0111969 immunodeficiency 39 ISO RGD:1319304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11683319 PKP3 plakophilin 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1319304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11683319 PKP3 plakophilin 3 gene DOID:1227 neutropenia ISO RGD:1319304 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 11683319 PKP3 plakophilin 3 gene DOID:630 genetic disease ISO RGD:1319304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683319 PKP3 plakophilin 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11683335 MTMR12 myotubularin related protein 12 gene DOID:630 genetic disease ISO RGD:1317364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683335 MTMR12 myotubularin related protein 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11683355 TGIF2 TGFB induced factor homeobox 2 gene DOID:2234 focal epilepsy ISO RGD:1344249 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11683355 TGIF2 TGFB induced factor homeobox 2 gene DOID:630 genetic disease ISO RGD:1344249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683375 NES nestin gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:737242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11683375 NES nestin gene DOID:0111940 immunodeficiency 42 ISO RGD:737242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11683375 NES nestin gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:737242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11683375 NES nestin gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:737242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11683375 NES nestin gene DOID:1540 parathyroid carcinoma ISO RGD:737242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11683375 NES nestin gene DOID:2316 brain ischemia ISO RGD:3162 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:17697621|REF_RGD_ID:1642071 11683375 NES nestin gene DOID:2527 nephrosis ISO RGD:3162 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:glomerulus PMID:17637254|REF_RGD_ID:1642072 11683375 NES nestin gene DOID:2527 nephrosis ISO RGD:737242 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16418842 11683375 NES nestin gene DOID:3021 acute kidney failure ISO RGD:3162 D RGD:9068941 20200609 RGD PMID:24503548|REF_RGD_ID:11570523 11683375 NES nestin gene DOID:3454 brain infarction ISO RGD:3162 D RGD:9068941 20200609 RGD associated with Hypertension PMID:16321245|REF_RGD_ID:1642069 11683375 NES nestin gene DOID:5812 MHC class II deficiency ISO RGD:737242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11683375 NES nestin gene DOID:630 genetic disease ISO RGD:737242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683375 NES nestin gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:737242 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16137769 11683375 NES nestin gene DOID:9001004 Chronic Periodontitis ISO RGD:737242 D RGD:9068941 20200609 RGD mRNA:decreased expression:gingival tissues PMID:21382035|REF_RGD_ID:6480655 11683375 NES nestin gene DOID:9004009 Reperfusion Injury ISO RGD:3162 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:17569338|REF_RGD_ID:1642074 11683375 NES nestin gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:3162 D RGD:9068941 20200609 RGD PMID:24503548|REF_RGD_ID:11570523 11683375 NES nestin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11683383 CLDND2 claudin domain containing 2 gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1604242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:16510302|PMID:23785301|PMID:28492532 11683383 CLDND2 claudin domain containing 2 gene DOID:0080600 COVID-19 ISO RGD:1604242 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11683383 CLDND2 claudin domain containing 2 gene DOID:630 genetic disease ISO RGD:1604242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683392 TAFA1 TAFA chemokine like family member 1 gene DOID:630 genetic disease ISO RGD:1347131 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683406 LOC100972759 plasma membrane ascorbate-dependent reductase CYBRD1 gene DOID:0080600 COVID-19 ISO RGD:1313951 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11683406 LOC100972759 plasma membrane ascorbate-dependent reductase CYBRD1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1313951 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11683406 LOC100972759 plasma membrane ascorbate-dependent reductase CYBRD1 gene DOID:630 genetic disease ISO RGD:1313951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683422 TIMM8B translocase of inner mitochondrial membrane 8 homolog B gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:734090 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 11683422 TIMM8B translocase of inner mitochondrial membrane 8 homolog B gene DOID:0080600 COVID-19 ISO RGD:734090 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11683422 TIMM8B translocase of inner mitochondrial membrane 8 homolog B gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:734090 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 11683422 TIMM8B translocase of inner mitochondrial membrane 8 homolog B gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:734090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:28492532 11683422 TIMM8B translocase of inner mitochondrial membrane 8 homolog B gene DOID:1059 intellectual disability ISO RGD:734090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11683422 TIMM8B translocase of inner mitochondrial membrane 8 homolog B gene DOID:12704 ataxia telangiectasia ISO RGD:734090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11683422 TIMM8B translocase of inner mitochondrial membrane 8 homolog B gene DOID:630 genetic disease ISO RGD:734090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683422 TIMM8B translocase of inner mitochondrial membrane 8 homolog B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:734090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11683422 TIMM8B translocase of inner mitochondrial membrane 8 homolog B gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:734090 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 11683428 C16H16orf90 chromosome 16 C16orf90 homolog gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:2303333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11683428 C16H16orf90 chromosome 16 C16orf90 homolog gene DOID:1826 epilepsy ISO RGD:2303333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11683428 C16H16orf90 chromosome 16 C16orf90 homolog gene DOID:1827 idiopathic generalized epilepsy ISO RGD:2303333 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11683428 C16H16orf90 chromosome 16 C16orf90 homolog gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:2303333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 11683435 CFAP92 cilia and flagella associated protein 92 (putative) gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1603021 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:16199547|PMID:20929961|PMID:21057504|PMID:22499348|PMID:25721401|PMID:25741868|PMID:28492532|PMID:30025539 11683435 CFAP92 cilia and flagella associated protein 92 (putative) gene DOID:0110159 Charcot-Marie-Tooth disease type 2B ISO RGD:1603021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B PMID:28492532 11683435 CFAP92 cilia and flagella associated protein 92 (putative) gene DOID:0111947 immunodeficiency 21 ISO RGD:1603021 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 11683435 CFAP92 cilia and flagella associated protein 92 (putative) gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:1603021 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency PMID:16199547|PMID:20929961|PMID:21057504|PMID:22499348|PMID:25326637|PMID:25721401|PMID:25741868|PMID:27233227|PMID:28492532|PMID:30025539|PMID:30831263|PMID:32746448 11683435 CFAP92 cilia and flagella associated protein 92 (putative) gene DOID:630 genetic disease ISO RGD:1603021 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25326637|PMID:25741868|PMID:27233227|PMID:28492532|PMID:30831263 11683435 CFAP92 cilia and flagella associated protein 92 (putative) gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1603021 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 11683435 CFAP92 cilia and flagella associated protein 92 (putative) gene DOID:9270 alkaptonuria ISO RGD:1603021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11683474 CIMAP1C ciliary microtubule associated protein 1C gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1348133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 11683474 CIMAP1C ciliary microtubule associated protein 1C gene DOID:1826 epilepsy ISO RGD:1348133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11683474 CIMAP1C ciliary microtubule associated protein 1C gene DOID:2717 Bloom syndrome ISO RGD:1348133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11683474 CIMAP1C ciliary microtubule associated protein 1C gene DOID:5419 schizophrenia ISO RGD:1348133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11683474 CIMAP1C ciliary microtubule associated protein 1C gene DOID:630 genetic disease ISO RGD:1348133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683474 CIMAP1C ciliary microtubule associated protein 1C gene DOID:9256 colorectal cancer ISO RGD:1348133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11683482 TTC4 tetratricopeptide repeat domain 4 gene DOID:630 genetic disease ISO RGD:1318353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683496 CACYBP calcyclin binding protein gene DOID:1540 parathyroid carcinoma ISO RGD:1346732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11683496 CACYBP calcyclin binding protein gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1346732 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas PMID:18765951|REF_RGD_ID:2326146 11683496 CACYBP calcyclin binding protein gene DOID:3755 antithrombin III deficiency ISO RGD:1346732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 11683496 CACYBP calcyclin binding protein gene DOID:5844 myocardial infarction ISO RGD:1303146 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:16440310|REF_RGD_ID:2326117 11683496 CACYBP calcyclin binding protein gene DOID:630 genetic disease ISO RGD:1346732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683496 CACYBP calcyclin binding protein gene DOID:9000965 Neoplasm Metastasis ISO RGD:1346732 D RGD:9068941 20200609 RGD associated with pancreatic neoplasms PMID:18765951|REF_RGD_ID:2326146 11683496 CACYBP calcyclin binding protein gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1346732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 11683496 CACYBP calcyclin binding protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11683512 CYP46A1 cytochrome P450 family 46 subfamily A member 1 gene DOID:10652 Alzheimer's disease ISO RGD:1315314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19286353 11683512 CYP46A1 cytochrome P450 family 46 subfamily A member 1 gene DOID:10652 Alzheimer's disease ISO RGD:1315314 D RGD:9068941 20200609 RGD PMID:12232784|REF_RGD_ID:1358575 11683512 CYP46A1 cytochrome P450 family 46 subfamily A member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1315314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 11683512 CYP46A1 cytochrome P450 family 46 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1315314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683532 FLNA filamin A gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1354471 D RGD:7240710 20180130 OMIM 11683532 FLNA filamin A gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 PMID:10982489|PMID:10982965|PMID:11532987|PMID:11914408|PMID:12410386|PMID:12612583|PMID:14988809|PMID:15194946|PMID:15523633|PMID:15668422|PMID:15864382|PMID:15917206|PMID:15994863|PMID:16199547|PMID:16299064|PMID:16303888|PMID:16417552|PMID:16596676|PMID:16684786|PMID:16822260|PMID:16835913|PMID:17152064|PMID:17264970|PMID:17546640|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:18854860|PMID:19773341|PMID:20014127|PMID:20186808|PMID:20598277|PMID:20730588|PMID:20844545|PMID:21520333|PMID:21836662|PMID:21960593|PMID:22366253|PMID:22522697|PMID:23873601|PMID:24088041|PMID:24098143|PMID:25167861|PMID:25326637|PMID:25614868|PMID:25649377|PMID:25686753|PMID:25741868|PMID:25817843|PMID:26059211|PMID:26061098|PMID:26188975|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27193221|PMID:27457812|PMID:27724990|PMID:28133863|PMID:28425981|PMID:28428218|PMID:28454995|PMID:28492532|PMID:28798025|PMID:29024177|PMID:29168297|PMID:29706646|PMID:29738522|PMID:30089473|PMID:30115950|PMID:30561107|PMID:30986657|PMID:31064749|PMID:32738303|PMID:33448881|PMID:3658675|PMID:8290091|PMID:9071288|PMID:9536098|PMID:9800904|PMID:9883725 11683532 FLNA filamin A gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1354471 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular | ClinVar Annotator: match by term: Periventricular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 PMID:10480214|PMID:10982489|PMID:10982965|PMID:11532987|PMID:11748843|PMID:11914408|PMID:11968085|PMID:12410386|PMID:12612583|PMID:14988809|PMID:15194946|PMID:15523633|PMID:15668422|PMID:15689435|PMID:15864382|PMID:15917206|PMID:15994863|PMID:16080119|PMID:16199547|PMID:16299064|PMID:16303888|PMID:16417552|PMID:16427346|PMID:16538226|PMID:16596676|PMID:16601897|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17152064|PMID:17264970|PMID:17546640|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:18854860|PMID:19377476|PMID:19396829|PMID:19773341|PMID:19846429|PMID:20014127|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20844545|PMID:20871226|PMID:21520333|PMID:21620354|PMID:21821884|PMID:21836662|PMID:21960593|PMID:22281021|PMID:22366253|PMID:22382802|PMID:22522697|PMID:23032111|PMID:23409742|PMID:23660394|PMID:23873601|PMID:24088041|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25167861|PMID:25614868|PMID:25649377|PMID:25686753|PMID:25741868|PMID:25817843|PMID:26059211|PMID:26061098|PMID:26188975|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27193221|PMID:27457812|PMID:27724990|PMID:28133863|PMID:28411558|PMID:28428218|PMID:28454995|PMID:28492532|PMID:28798025|PMID:28898549|PMID:29024177|PMID:29168297|PMID:29334594|PMID:29650765|PMID:29706646|PMID:29720203|PMID:29738522|PMID:30089473|PMID:30115950|PMID:30143558|PMID:30293987|PMID:30561107|PMID:30755392|PMID:30986657|PMID:31064749|PMID:31625567|PMID:31919883|PMID:32410215|PMID:32738303|PMID:33077954|PMID:33448881|PMID:33994118|PMID:3658675|PMID:8290091|PMID:9071288|PMID:9384614|PMID:9536098|PMID:9800904|PMID:9883725 11683532 FLNA filamin A gene DOID:0050476 Barth syndrome ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11683532 FLNA filamin A gene DOID:0050645 arterial tortuosity syndrome ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arterial tortuosity PMID:25741868 11683532 FLNA filamin A gene DOID:0050800 creatine transporter deficiency ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 11683532 FLNA filamin A gene DOID:0060180 colitis ISO RGD:1354471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colitis PMID:25741868|PMID:28492532|PMID:30755392 11683532 FLNA filamin A gene DOID:0060249 scoliosis ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:28492532 11683532 FLNA filamin A gene DOID:0060327 omphalocele ISO RGD:1354471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Omphalocoele PMID:25741868 11683532 FLNA filamin A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11683532 FLNA filamin A gene DOID:0060889 prune belly syndrome ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prune belly syndrome 11683532 FLNA filamin A gene DOID:0080681 X-linked chronic idiopathic intestinal pseudo-obstruction ISO RGD:1354471 D RGD:7240710 20180130 OMIM 11683532 FLNA filamin A gene DOID:0080681 X-linked chronic idiopathic intestinal pseudo-obstruction ISO RGD:1354471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CIIP X-linked | ClinVar Annotator: match by term: Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked PMID:10982489|PMID:12612583|PMID:16417552|PMID:16822260|PMID:18414213|PMID:22522697|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30089473|PMID:30986657 11683532 FLNA filamin A gene DOID:0111765 X-linked cardiac valvular dysplasia ISO RGD:1354471 D RGD:7240710 20180130 OMIM 11683532 FLNA filamin A gene DOID:0111765 X-linked cardiac valvular dysplasia ISO RGD:1354471 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiac valvular dysplasia, X-linked | ClinVar Annotator: match by term: Myxomatous valvular dystrophy, X-linked PMID:10982489|PMID:12612583|PMID:16299064|PMID:16417552|PMID:16822260|PMID:16875750|PMID:17190868|PMID:17576681|PMID:17632775|PMID:18414213|PMID:1854572|PMID:20301567|PMID:22522697|PMID:240645|PMID:24088041|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27739212|PMID:28492532|PMID:29168297|PMID:29237676|PMID:30089473|PMID:30986657|PMID:32738303|PMID:8230166|PMID:9497244|PMID:9536098 11683532 FLNA filamin A gene DOID:0111782 otopalatodigital syndrome spectrum disorder ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Otopalatodigital syndrome spectrum disorder PMID:15654694|PMID:16596676 11683532 FLNA filamin A gene DOID:0111783 otopalatodigital syndrome type 1 ISO RGD:1354471 D RGD:7240710 20180130 OMIM 11683532 FLNA filamin A gene DOID:0111783 otopalatodigital syndrome type 1 ISO RGD:1354471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: OPD syndrome 1 | ClinVar Annotator: match by term: Oto-palato-digital syndrome, type I | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type I PMID:10982489|PMID:11704759|PMID:11992261|PMID:12612583|PMID:15194946|PMID:15917206|PMID:15940695|PMID:16417552|PMID:16538226|PMID:16822260|PMID:17264970|PMID:18414213|PMID:20301567|PMID:20979190|PMID:22465605|PMID:22522697|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29300383|PMID:30143558|PMID:30986657|PMID:31942422|PMID:6019437 11683532 FLNA filamin A gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1354471 D RGD:7240710 20180130 OMIM 11683532 FLNA filamin A gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Andre syndrome | ClinVar Annotator: match by term: Cranio-oro-digital syndrome | ClinVar Annotator: match by term: Faciopalatoosseous syndrome | ClinVar Annotator: match by term: OPD 2 syndrome | ClinVar Annotator: match by term: OPD II SYNDROME | ClinVar Annotator: match by term: Oto-palato-digital syndrome type 2 | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:10982489|PMID:11532987|PMID:12410386|PMID:12612583|PMID:15194946|PMID:15523633|PMID:15689435|PMID:15917206|PMID:16080119|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16596676|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17264970|PMID:17431908|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:19773341|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20844545|PMID:21620354|PMID:21836662|PMID:21960593|PMID:22522697|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26404489|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:30089473|PMID:30143558|PMID:30755392|PMID:30986657|PMID:31064749|PMID:32410215|PMID:32738303|PMID:33448881|PMID:9071288|PMID:9536098 11683532 FLNA filamin A gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:10982489|PMID:11532987|PMID:12410386|PMID:12612583|PMID:15194946|PMID:15523633|PMID:15689435|PMID:15917206|PMID:16080119|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16596676|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17264970|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:19773341|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20844545|PMID:21620354|PMID:21836662|PMID:21960593|PMID:22522697|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26404489|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:30089473|PMID:30143558|PMID:30755392|PMID:30986657|PMID:31064749|PMID:32410215|PMID:32738303|PMID:33448881|PMID:9071288|PMID:9536098 11683532 FLNA filamin A gene DOID:0111786 frontometaphyseal dysplasia 1 ISO RGD:1354471 D RGD:7240710 20180130 OMIM 11683532 FLNA filamin A gene DOID:0111786 frontometaphyseal dysplasia 1 ISO RGD:1354471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FRONTOMETAPHYSEAL DYSPLASIA 1 | ClinVar Annotator: match by term: Frontometaphyseal dysplasia 1 PMID:10982489|PMID:12612583|PMID:15523633|PMID:15917206|PMID:16417552|PMID:16596676|PMID:16822260|PMID:16835913|PMID:18414213|PMID:22522697|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30986657|PMID:9071288 11683532 FLNA filamin A gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1354471 D RGD:7240710 20200408 OMIM 11683532 FLNA filamin A gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Melnick-Needles osteodysplasty | ClinVar Annotator: match by term: Melnick-Needles syndrome | ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:10982489|PMID:11532987|PMID:12410386|PMID:12612583|PMID:15194946|PMID:15523633|PMID:15689435|PMID:15917206|PMID:16080119|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16596676|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17264970|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:19773341|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20844545|PMID:21620354|PMID:21836662|PMID:21960593|PMID:22522697|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26404489|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:30089473|PMID:30143558|PMID:30755392|PMID:30986657|PMID:31064749|PMID:32410215|PMID:32738303|PMID:33448881|PMID:9071288|PMID:9536098 11683532 FLNA filamin A gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 11683532 FLNA filamin A gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 11683532 FLNA filamin A gene DOID:0112003 immunodeficiency 33 ISO RGD:1354471 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11683532 FLNA filamin A gene DOID:0112149 terminal osseous dysplasia ISO RGD:1354471 D RGD:7240710 20180130 OMIM 11683532 FLNA filamin A gene DOID:0112149 terminal osseous dysplasia ISO RGD:1354471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Terminal osseous dysplasia | ClinVar Annotator: match by term: Terminal osseous dysplasia-pigmentary defects syndrome PMID:10982489|PMID:10982965|PMID:12612583|PMID:15864382|PMID:16417552|PMID:16822260|PMID:17152064|PMID:17576681|PMID:18414213|PMID:20301567|PMID:20598277|PMID:22522697|PMID:25614868|PMID:25741868|PMID:26059211|PMID:26061098|PMID:26467025|PMID:28492532|PMID:30561107|PMID:30986657|PMID:31919883|PMID:9536098|PMID:9800904 11683532 FLNA filamin A gene DOID:10588 adrenoleukodystrophy ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11683532 FLNA filamin A gene DOID:1059 intellectual disability ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:28492532 11683532 FLNA filamin A gene DOID:10907 microcephaly ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11683532 FLNA filamin A gene DOID:11111 hydronephrosis ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydronephrosis PMID:28492532 11683532 FLNA filamin A gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23169761|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11683532 FLNA filamin A gene DOID:11830 myopia ISO RGD:1354471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Myopia PMID:28492532 11683532 FLNA filamin A gene DOID:12849 autistic disorder ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11683532 FLNA filamin A gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868 11683532 FLNA filamin A gene DOID:13515 tuberous sclerosis ISO RGD:1354471 D RGD:9068941 20200609 RGD protein:increased expression:prefrontal cortex (human) PMID:25277454|REF_RGD_ID:11565117 11683532 FLNA filamin A gene DOID:13620 patent foramen ovale ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Patent foramen ovale PMID:25741868 11683532 FLNA filamin A gene DOID:13628 favism ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11683532 FLNA filamin A gene DOID:14004 thoracic aortic aneurysm ISO RGD:1354471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11704759|PMID:11992261|PMID:12612583|PMID:15917206|PMID:16299064|PMID:16538226|PMID:17576681|PMID:17632775|PMID:18414213|PMID:19377476|PMID:20979190|PMID:21320118|PMID:22076441|PMID:22465605|PMID:22740120|PMID:23032111|PMID:23487190|PMID:25167861|PMID:25741868|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:30089473|PMID:30143558|PMID:30755392|PMID:30986657|PMID:31942422|PMID:32410215|PMID:32738303|PMID:33448881|PMID:6019437|PMID:9536098 11683532 FLNA filamin A gene DOID:14323 Marfan syndrome ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:28492532 11683532 FLNA filamin A gene DOID:14711 FG syndrome ISO RGD:1354471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17632775 11683532 FLNA filamin A gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type 11683532 FLNA filamin A gene DOID:1588 thrombocytopenia ISO RGD:1354471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:26467025|PMID:28492532|PMID:30755392 11683532 FLNA filamin A gene DOID:1657 ventricular septal defect ISO RGD:1354471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:28492532 11683532 FLNA filamin A gene DOID:1682 congenital heart disease ISO RGD:1354471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 11683532 FLNA filamin A gene DOID:1826 epilepsy ISO RGD:1354471 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure 11683532 FLNA filamin A gene DOID:1923 disorder of sexual development ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ambiguous genitalia | ClinVar Annotator: match by term: Disorder of sexual differentiation PMID:25741868|PMID:28492532 11683532 FLNA filamin A gene DOID:2213 hemorrhagic disease ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:26467025|PMID:28492532 11683532 FLNA filamin A gene DOID:2256 osteochondrodysplasia ISO RGD:1354471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12612583 11683532 FLNA filamin A gene DOID:2256 osteochondrodysplasia ISO RGD:1354471 D RGD:9068941 20200609 RGD Melnick-Needles syndrome;DNA:missense mutations:cds:p.A1188T, p.S1199L (human) PMID:12612583|REF_RGD_ID:1598954 11683532 FLNA filamin A gene DOID:2256 osteochondrodysplasia ISO RGD:1354471 D RGD:9068941 20200609 RGD associated with Periventricular Nodular Heterotopia;DNA:missense mutation:cds:p.G208R (human) PMID:25755106|REF_RGD_ID:11565455 11683532 FLNA filamin A gene DOID:2340 craniosynostosis ISO RGD:1354471 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple (human) PMID:25873011|REF_RGD_ID:11531800 11683532 FLNA filamin A gene DOID:2729 dyskeratosis congenita ISO RGD:1354471 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11683532 FLNA filamin A gene DOID:3627 aortic aneurysm ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic dilatation PMID:18414213|PMID:21836662|PMID:25741868|PMID:26467025|PMID:28492532 11683532 FLNA filamin A gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:28492532 11683532 FLNA filamin A gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11683532 FLNA filamin A gene DOID:607 paraplegia ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11683532 FLNA filamin A gene DOID:630 genetic disease ISO RGD:1354471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26404489|PMID:28492532|PMID:30293987|PMID:30391507|PMID:31625567|PMID:33077954|PMID:34863227 11683532 FLNA filamin A gene DOID:65 connective tissue disease ISO RGD:1354471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:18414213|PMID:18805826|PMID:21520333|PMID:21836662|PMID:25741868|PMID:26404489|PMID:26467025|PMID:28492532 11683532 FLNA filamin A gene DOID:674 cleft palate ISO RGD:1354471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:11704759|PMID:11992261|PMID:12612583|PMID:15917206|PMID:16538226|PMID:20979190|PMID:22465605|PMID:25741868|PMID:31942422|PMID:6019437 11683532 FLNA filamin A gene DOID:687 hepatoblastoma ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 11683532 FLNA filamin A gene DOID:7400 Nijmegen breakage syndrome ISO RGD:1354471 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency PMID:18414213|PMID:25677497|PMID:25741868|PMID:28492532 11683532 FLNA filamin A gene DOID:850 lung disease ISO RGD:1354471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chronic lung disease PMID:18414213|PMID:25741868|PMID:28492532 11683532 FLNA filamin A gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1354471 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 11683532 FLNA filamin A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1354471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11683532 FLNA filamin A gene DOID:9001665 Aneurysm ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aneurysm PMID:25741868 11683532 FLNA filamin A gene DOID:9002387 FG Syndrome 2 ISO RGD:1354471 D RGD:7240710 20200226 OMIM 11683532 FLNA filamin A gene DOID:9002387 FG Syndrome 2 ISO RGD:1354471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: FG syndrome 2 PMID:10982489|PMID:12612583|PMID:16299064|PMID:16417552|PMID:16822260|PMID:17632775|PMID:18414213|PMID:22522697|PMID:25167861|PMID:25741868|PMID:26467025|PMID:28133863|PMID:28492532|PMID:29720203|PMID:30089473|PMID:30986657 11683532 FLNA filamin A gene DOID:9002720 Splenomegaly ISO RGD:1354471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11683532 FLNA filamin A gene DOID:9002914 Familial Sudden Death ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death in childhood PMID:25741868|PMID:28492532 11683532 FLNA filamin A gene DOID:9003646 Arterial Thrombosis ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arterial thrombosis PMID:25741868 11683532 FLNA filamin A gene DOID:9004240 Phyllodes Tumor ISO RGD:1354471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 11683532 FLNA filamin A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11683532 FLNA filamin A gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT | ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant | ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 PMID:10982489|PMID:11532987|PMID:12410386|PMID:12612583|PMID:15194946|PMID:15523633|PMID:15689435|PMID:15917206|PMID:16080119|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16596676|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17264970|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:19773341|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20844545|PMID:21620354|PMID:21836662|PMID:21960593|PMID:22522697|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26404489|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:30089473|PMID:30143558|PMID:30755392|PMID:30986657|PMID:31064749|PMID:32410215|PMID:32738303|PMID:33448881|PMID:9071288|PMID:9536098 11683532 FLNA filamin A gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:10982489|PMID:11532987|PMID:12410386|PMID:12612583|PMID:15194946|PMID:15523633|PMID:15689435|PMID:15917206|PMID:16080119|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16596676|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17264970|PMID:17431908|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:19773341|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20844545|PMID:21620354|PMID:21836662|PMID:21960593|PMID:22522697|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26404489|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:30089473|PMID:30143558|PMID:30755392|PMID:30986657|PMID:31064749|PMID:32410215|PMID:32738303|PMID:33448881|PMID:9071288|PMID:9536098 11683532 FLNA filamin A gene DOID:9005603 Muscle Hypotonia ISO RGD:1354471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:25741868 11683532 FLNA filamin A gene DOID:9007096 Stroke ISO RGD:1354471 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:28492532 11683532 FLNA filamin A gene DOID:9007661 Dwarfism ISO RGD:1354471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Short stature PMID:11704759|PMID:11992261|PMID:12612583|PMID:15917206|PMID:16538226|PMID:20979190|PMID:22465605|PMID:25741868|PMID:31942422|PMID:6019437 11683532 FLNA filamin A gene DOID:9008086 Developmental Disabilities ISO RGD:1354471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay PMID:16684786|PMID:20730588|PMID:25741868|PMID:26471271|PMID:28492532|PMID:36937954 11683532 FLNA filamin A gene DOID:9008939 Breast Neoplasms ISO RGD:1354471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 11683532 FLNA filamin A gene DOID:9008975 Gastrointestinal Hemorrhage ISO RGD:1354471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hematochezia PMID:25741868|PMID:28492532|PMID:30755392 11683532 FLNA filamin A gene DOID:9009005 Familial Thoracic Aortic Aneurysm 2 ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 PMID:28492532 11683532 FLNA filamin A gene DOID:988 mitral valve prolapse ISO RGD:1354471 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G288R (human) PMID:24243761|REF_RGD_ID:11565119 11683533 LRRN4CL LRRN4 C-terminal like gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1603349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:28492532 11683533 LRRN4CL LRRN4 C-terminal like gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11683533 LRRN4CL LRRN4 C-terminal like gene DOID:1059 intellectual disability ISO RGD:1603349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11683533 LRRN4CL LRRN4 C-terminal like gene DOID:630 genetic disease ISO RGD:1603349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683539 CD300A CD300a molecule gene DOID:630 genetic disease ISO RGD:1344130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683565 MMP24 matrix metallopeptidase 24 gene DOID:630 genetic disease ISO RGD:732592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683565 MMP24 matrix metallopeptidase 24 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732592 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869830 11683580 GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 gene DOID:630 genetic disease ISO RGD:1320757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683580 GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 gene DOID:8445 intestinal volvulus ISO RGD:1320757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11683580 GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 gene DOID:9008386 Hydrops Fetalis ISO RGD:1320757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 11683580 GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1320757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11683602 PI3 peptidase inhibitor 3 gene DOID:2234 focal epilepsy ISO RGD:1344308 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11683602 PI3 peptidase inhibitor 3 gene DOID:2773 contact dermatitis ISO RGD:1344308 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11683602 PI3 peptidase inhibitor 3 gene DOID:630 genetic disease ISO RGD:1344308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683602 PI3 peptidase inhibitor 3 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1344308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11683609 KCNK17 potassium two pore domain channel subfamily K member 17 gene DOID:630 genetic disease ISO RGD:1349439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683624 MRPL28 mitochondrial ribosomal protein L28 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1349308 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11683624 MRPL28 mitochondrial ribosomal protein L28 gene DOID:13501 Moebius syndrome ISO RGD:1349308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 11683624 MRPL28 mitochondrial ribosomal protein L28 gene DOID:1826 epilepsy ISO RGD:1349308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 11683624 MRPL28 mitochondrial ribosomal protein L28 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1349308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11683624 MRPL28 mitochondrial ribosomal protein L28 gene DOID:630 genetic disease ISO RGD:1349308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683650 YY2 YY2 transcription factor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11683650 YY2 YY2 transcription factor gene DOID:12849 autistic disorder ISO RGD:1354472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11683650 YY2 YY2 transcription factor gene DOID:630 genetic disease ISO RGD:1354472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683650 YY2 YY2 transcription factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11683659 TMEM132A transmembrane protein 132A gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11683659 TMEM132A transmembrane protein 132A gene DOID:1059 intellectual disability ISO RGD:1606273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11683659 TMEM132A transmembrane protein 132A gene DOID:630 genetic disease ISO RGD:1606273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683674 IRF1 interferon regulatory factor 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:735989 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11683674 IRF1 interferon regulatory factor 1 gene DOID:10534 stomach cancer ISO RGD:735989 D RGD:7240710 20220209 OMIM 11683674 IRF1 interferon regulatory factor 1 gene DOID:10534 stomach cancer ISO RGD:735989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:9679752 11683674 IRF1 interferon regulatory factor 1 gene DOID:11204 allergic conjunctivitis ISO RGD:2920 D RGD:9068941 20200609 RGD PMID:14605445|REF_RGD_ID:5128787 11683674 IRF1 interferon regulatory factor 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:2920 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion PMID:20045913|REF_RGD_ID:5128775 11683674 IRF1 interferon regulatory factor 1 gene DOID:1485 cystic fibrosis ISO RGD:10815 D RGD:9068941 20200609 RGD protein:decreased expression:intestine epithelium, nasal cavity epithelium PMID:10930443|REF_RGD_ID:5128720 11683674 IRF1 interferon regulatory factor 1 gene DOID:2043 hepatitis B disease_progression ISO RGD:10815 D RGD:9068941 20201218 RGD PMID:11861827|REF_RGD_ID:40902828 11683674 IRF1 interferon regulatory factor 1 gene DOID:2841 asthma ISO RGD:735989 D RGD:9068941 20200609 RGD protein:increased expression:respiratory tract epithelium PMID:10225979|REF_RGD_ID:5128723 11683674 IRF1 interferon regulatory factor 1 gene DOID:2841 asthma no_association ISO RGD:735989 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, cds:-300G>T, 4396A>G, 6355G>A (human) PMID:11069564|REF_RGD_ID:5128726 11683674 IRF1 interferon regulatory factor 1 gene DOID:2841 asthma susceptibility ISO RGD:735989 D RGD:9068941 20200609 RGD DNA:repeat:intron (human) PMID:16961714|REF_RGD_ID:5128724 11683674 IRF1 interferon regulatory factor 1 gene DOID:2870 endometrial adenocarcinoma ISO RGD:2920 D RGD:9068941 20200609 RGD DNA:deletions (rat) PMID:19075038|REF_RGD_ID:5128782 11683674 IRF1 interferon regulatory factor 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:10815 D RGD:9068941 20200609 RGD PMID:11083808|REF_RGD_ID:5128719 11683674 IRF1 interferon regulatory factor 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:735989 D RGD:9068941 20200609 RGD PMID:9679752|REF_RGD_ID:1600013 11683674 IRF1 interferon regulatory factor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:10395927 11683674 IRF1 interferon regulatory factor 1 gene DOID:5199 ureteral obstruction ISO RGD:2920 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:12787392|REF_RGD_ID:2317694 11683674 IRF1 interferon regulatory factor 1 gene DOID:630 genetic disease ISO RGD:735989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683674 IRF1 interferon regulatory factor 1 gene DOID:850 lung disease ISO RGD:2920 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:11880315|REF_RGD_ID:5128716 11683674 IRF1 interferon regulatory factor 1 gene DOID:8736 smallpox treatment ISO RGD:735989 D RGD:9068941 20210305 RGD DNA:SNPs,haplotype: :rs839, rs9282763(human) PMID:18454680|REF_RGD_ID:42722608 11683674 IRF1 interferon regulatory factor 1 gene DOID:874 bacterial pneumonia ISO RGD:10815 D RGD:9068941 20200609 RGD PMID:11854220|REF_RGD_ID:5128725 11683674 IRF1 interferon regulatory factor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2920 D RGD:9068941 20200609 RGD PMID:11723173|REF_RGD_ID:2298928 11683674 IRF1 interferon regulatory factor 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:735989 D RGD:9068941 20220217 CTD CTD Direct Evidence: marker/mechanism 11683674 IRF1 interferon regulatory factor 1 gene DOID:9000998 Brain Injuries ISO RGD:2920 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:12503083|REF_RGD_ID:2317873 11683674 IRF1 interferon regulatory factor 1 gene DOID:9000998 Brain Injuries ISO RGD:735989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 11683674 IRF1 interferon regulatory factor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2920 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:12437578|REF_RGD_ID:632385 11683674 IRF1 interferon regulatory factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11683674 IRF1 interferon regulatory factor 1 gene DOID:9005172 Lung Neoplasms ISO RGD:735989 D RGD:7240710 20180130 OMIM 11683674 IRF1 interferon regulatory factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735989 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11683674 IRF1 interferon regulatory factor 1 gene DOID:9007096 Stroke ISO RGD:735989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 11683674 IRF1 interferon regulatory factor 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:735989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11683674 IRF1 interferon regulatory factor 1 gene DOID:9008680 Respiratory Tract Infections ISO RGD:10815 D RGD:9068941 20200609 RGD PMID:10497103|REF_RGD_ID:5128721 11683688 SMARCA5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 gene DOID:1059 intellectual disability ISO RGD:1318831 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intellectual disability 11683688 SMARCA5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 gene DOID:630 genetic disease ISO RGD:1318831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683688 SMARCA5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 gene DOID:9007661 Dwarfism ISO RGD:1318831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11683688 SMARCA5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1318831 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay 11683716 MCRIP1 MAPK regulated corepressor interacting protein 1 gene DOID:630 genetic disease ISO RGD:1603840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683794 MAP1LC3B microtubule associated protein 1 light chain 3 beta gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1350223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 11683794 MAP1LC3B microtubule associated protein 1 light chain 3 beta gene DOID:630 genetic disease ISO RGD:1350223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683794 MAP1LC3B microtubule associated protein 1 light chain 3 beta gene DOID:700 mitochondrial metabolism disease ISO RGD:1350223 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30673822 11683794 MAP1LC3B microtubule associated protein 1 light chain 3 beta gene DOID:9000039 Spinal Cord Injuries ISO RGD:1350223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 11683794 MAP1LC3B microtubule associated protein 1 light chain 3 beta gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1350223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 11683794 MAP1LC3B microtubule associated protein 1 light chain 3 beta gene DOID:9005587 Starvation ISO RGD:1350223 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26483381 11683794 MAP1LC3B microtubule associated protein 1 light chain 3 beta gene DOID:9007102 Myocardial Ischemia ISO RGD:621315 D RGD:9068941 20200609 RGD PMID:12371906|REF_RGD_ID:629541 11683794 MAP1LC3B microtubule associated protein 1 light chain 3 beta gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1350223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11683794 MAP1LC3B microtubule associated protein 1 light chain 3 beta gene DOID:9008022 Temporomandibular Joint Osteoarthritis ISO RGD:621315 D RGD:9068941 20200709 RGD PMID:31007149|REF_RGD_ID:34888237 11683806 CNTROB centrobin, centriole duplication and spindle assembly protein gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1603924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11683806 CNTROB centrobin, centriole duplication and spindle assembly protein gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:1603924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:28492532 11683806 CNTROB centrobin, centriole duplication and spindle assembly protein gene DOID:0112311 male infertility due to acephalic spermatozoa ISO RGD:1307488 D RGD:9068941 20211112 RGD DNA:insertion:intron 10 (rat) PMID:19710508|REF_RGD_ID:150521555 11683806 CNTROB centrobin, centriole duplication and spindle assembly protein gene DOID:11612 polycystic ovary syndrome ISO RGD:1603924 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11683806 CNTROB centrobin, centriole duplication and spindle assembly protein gene DOID:12177 common variable immunodeficiency ISO RGD:1603924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11683806 CNTROB centrobin, centriole duplication and spindle assembly protein gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11683806 CNTROB centrobin, centriole duplication and spindle assembly protein gene DOID:2729 dyskeratosis congenita ISO RGD:1603924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11683806 CNTROB centrobin, centriole duplication and spindle assembly protein gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1603924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 11683806 CNTROB centrobin, centriole duplication and spindle assembly protein gene DOID:630 genetic disease ISO RGD:1603924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683858 HIPK3 homeodomain interacting protein kinase 3 gene DOID:1059 intellectual disability ISO RGD:731500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11683858 HIPK3 homeodomain interacting protein kinase 3 gene DOID:630 genetic disease ISO RGD:731500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683884 CCDC27 coiled-coil domain containing 27 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1602432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11683884 CCDC27 coiled-coil domain containing 27 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11683884 CCDC27 coiled-coil domain containing 27 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1602432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11683884 CCDC27 coiled-coil domain containing 27 gene DOID:0111934 immunodeficiency 38 ISO RGD:1602432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11683884 CCDC27 coiled-coil domain containing 27 gene DOID:0111935 immunodeficiency 16 ISO RGD:1602432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11683884 CCDC27 coiled-coil domain containing 27 gene DOID:630 genetic disease ISO RGD:1602432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683884 CCDC27 coiled-coil domain containing 27 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11683884 CCDC27 coiled-coil domain containing 27 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1602432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11683901 GZMM granzyme M gene DOID:630 genetic disease ISO RGD:1344003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683909 HIGD1A HIG1 hypoxia inducible domain family member 1A gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1603666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 11683909 HIGD1A HIG1 hypoxia inducible domain family member 1A gene DOID:630 genetic disease ISO RGD:1603666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683925 CLDN34 claudin 34 gene DOID:12849 autistic disorder ISO RGD:9837188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11683925 CLDN34 claudin 34 gene DOID:630 genetic disease ISO RGD:9837188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683929 VSTM2A V-set and transmembrane domain containing 2A gene DOID:12849 autistic disorder ISO RGD:1604199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11683929 VSTM2A V-set and transmembrane domain containing 2A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11683929 VSTM2A V-set and transmembrane domain containing 2A gene DOID:630 genetic disease ISO RGD:1604199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683950 TBXT T-box transcription factor T gene DOID:0080074 neural tube defect ISO RGD:1320869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect | ClinVar Annotator: match by term: Neural tube defects, susceptibility to PMID:10332959|PMID:10817656|PMID:12116228|PMID:15449172|PMID:25741868|PMID:8733136 11683950 TBXT T-box transcription factor T gene DOID:0080074 neural tube defect susceptibility ISO RGD:1320869 D RGD:7240710 20230517 OMIM 11683950 TBXT T-box transcription factor T gene DOID:0081205 autosomal recessive intellectual developmental disorder 40 ISO RGD:1320869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 40 PMID:25741868 11683950 TBXT T-box transcription factor T gene DOID:3302 chordoma ISO RGD:1320869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19801981|PMID:23064415 11683950 TBXT T-box transcription factor T gene DOID:630 genetic disease ISO RGD:1320869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683950 TBXT T-box transcription factor T gene DOID:9004975 Sacral Agenesis with Vertebral Anomalies ISO RGD:1320869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sacral agenesis with vertebral anomalies PMID:24253444|PMID:25741868 11683950 TBXT T-box transcription factor T gene DOID:9004975 Sacral Agenesis with Vertebral Anomalies susceptibility ISO RGD:1320869 D RGD:7240710 20230517 OMIM 11683971 GDAP1L1 ganglioside induced differentiation associated protein 1 like 1 gene DOID:2234 focal epilepsy ISO RGD:1312703 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11683971 GDAP1L1 ganglioside induced differentiation associated protein 1 like 1 gene DOID:630 genetic disease ISO RGD:1312703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683971 GDAP1L1 ganglioside induced differentiation associated protein 1 like 1 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1312703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11683988 LRRC47 leucine rich repeat containing 47 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1603205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11683988 LRRC47 leucine rich repeat containing 47 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11683988 LRRC47 leucine rich repeat containing 47 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1603205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11683988 LRRC47 leucine rich repeat containing 47 gene DOID:0111934 immunodeficiency 38 ISO RGD:1603205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11683988 LRRC47 leucine rich repeat containing 47 gene DOID:0111935 immunodeficiency 16 ISO RGD:1603205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11683988 LRRC47 leucine rich repeat containing 47 gene DOID:630 genetic disease ISO RGD:1603205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11683988 LRRC47 leucine rich repeat containing 47 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11683988 LRRC47 leucine rich repeat containing 47 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1603205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11684000 TMEM210 transmembrane protein 210 gene DOID:0050777 Joubert syndrome ISO RGD:2292188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11684000 TMEM210 transmembrane protein 210 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:2292188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 11684000 TMEM210 transmembrane protein 210 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:2292188 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 11684000 TMEM210 transmembrane protein 210 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:2292188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11684000 TMEM210 transmembrane protein 210 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:2292188 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11684000 TMEM210 transmembrane protein 210 gene DOID:0081097 Rafiq syndrome ISO RGD:2292188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11684000 TMEM210 transmembrane protein 210 gene DOID:1826 epilepsy ISO RGD:2292188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11684000 TMEM210 transmembrane protein 210 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:2292188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11684023 SHOC1 shortage in chiasmata 1 gene DOID:9003010 Spermatogenic Failure 75 ISO RGD:1351188 D RGD:7240710 20221109 OMIM 11684023 SHOC1 shortage in chiasmata 1 gene DOID:9003010 Spermatogenic Failure 75 ISO RGD:1351188 D RGD:8554872 20221115 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 75 PMID:32741963|PMID:32900840|PMID:35485979 11684061 SLC30A6 solute carrier family 30 member 6 gene DOID:0090065 familial cold autoinflammatory syndrome 4 ISO RGD:1319489 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 PMID:28492532 11684061 SLC30A6 solute carrier family 30 member 6 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1319489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:25065914|PMID:25741868|PMID:28492532 11684061 SLC30A6 solute carrier family 30 member 6 gene DOID:10652 Alzheimer's disease ISO RGD:1319489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16580781 11684061 SLC30A6 solute carrier family 30 member 6 gene DOID:607 paraplegia ISO RGD:1319489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:32581362 11684061 SLC30A6 solute carrier family 30 member 6 gene DOID:630 genetic disease ISO RGD:1319489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11684061 SLC30A6 solute carrier family 30 member 6 gene DOID:9008410 Autoinflammation with Infantile Enterocolitis ISO RGD:1319489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis PMID:28492532 11684086 SLC35E1 solute carrier family 35 member E1 gene DOID:630 genetic disease ISO RGD:1319908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11684096 C2BH2orf80 chromosome 2B C2orf80 homolog gene DOID:14557 primary pulmonary hypertension ISO RGD:2298832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11684096 C2BH2orf80 chromosome 2B C2orf80 homolog gene DOID:630 genetic disease ISO RGD:2298832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11684096 C2BH2orf80 chromosome 2B C2orf80 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2298832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11684114 MC4R melanocortin 4 receptor gene DOID:0050572 cone-rod dystrophy ISO RGD:733058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive PMID:10903341|PMID:12499395|PMID:12690102|PMID:16507637|PMID:16611215|PMID:18559663|PMID:23791567|PMID:25741868|PMID:25741869|PMID:30004997 11684114 MC4R melanocortin 4 receptor gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:733058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868 11684114 MC4R melanocortin 4 receptor gene DOID:0060842 isolated microphthalmia 3 ISO RGD:733058 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 11684114 MC4R melanocortin 4 receptor gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:735526 D RGD:9068941 20220825 MouseDO 11684114 MC4R melanocortin 4 receptor gene DOID:0111988 immunodeficiency 12 ISO RGD:733058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 11684114 MC4R melanocortin 4 receptor gene DOID:11446 sciatic neuropathy ISO RGD:3057 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglia (rat) PMID:21985621|REF_RGD_ID:6484557 11684114 MC4R melanocortin 4 receptor gene DOID:11981 morbid obesity ISO RGD:733058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29273807|PMID:29311635 11684114 MC4R melanocortin 4 receptor gene DOID:11981 morbid obesity ISO RGD:733058 D RGD:9068941 20200609 RGD PMID:11443223|PMID:12588803|REF_RGD_ID:1600750|REF_RGD_ID:1600755 11684114 MC4R melanocortin 4 receptor gene DOID:2018 hyperinsulinism ISO RGD:733058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23251400 11684114 MC4R melanocortin 4 receptor gene DOID:5419 schizophrenia ISO RGD:733058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:10199800|PMID:10577903|PMID:12499395|PMID:12646665|PMID:12851297|PMID:12970296|PMID:15486053|PMID:16274851|PMID:16507637|PMID:16616374|PMID:16752916|PMID:18559663|PMID:18801902|PMID:19091795|PMID:19301229|PMID:20966905|PMID:25741868|PMID:29273807|PMID:29970488 11684114 MC4R melanocortin 4 receptor gene DOID:630 genetic disease ISO RGD:733058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11684114 MC4R melanocortin 4 receptor gene DOID:9002211 Hyperalgesia ISO RGD:3057 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglia (rat) PMID:20081244|REF_RGD_ID:6484233 11684114 MC4R melanocortin 4 receptor gene DOID:9002916 Hyperphagia ISO RGD:733058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23251400 11684114 MC4R melanocortin 4 receptor gene DOID:9004713 Acute-Phase Reaction ISO RGD:3057 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:22183812|REF_RGD_ID:6484138 11684114 MC4R melanocortin 4 receptor gene DOID:9005930 Endotoxemia ISO RGD:3057 D RGD:9068941 20200609 RGD mRNA:increased expression:paraventricular nucleus (rat) PMID:21343543|REF_RGD_ID:6484214 11684114 MC4R melanocortin 4 receptor gene DOID:9007001 Bradycardia ISO RGD:3057 D RGD:9068941 20200609 RGD PMID:24400148|REF_RGD_ID:13825242 11684114 MC4R melanocortin 4 receptor gene DOID:9007346 Cachexia ISO RGD:735526 D RGD:9068941 20200609 RGD associated with Myocardial Infarction PMID:20371568|REF_RGD_ID:6484229 11684114 MC4R melanocortin 4 receptor gene DOID:9007633 Body Weight ISO RGD:733058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344219|PMID:22344221 11684114 MC4R melanocortin 4 receptor gene DOID:9007692 Insulin Resistance ISO RGD:3057 D RGD:9068941 20210611 RGD DNA:nonsense mutation:cds:p.K314X (rat) PMID:24400148|REF_RGD_ID:13825242 11684114 MC4R melanocortin 4 receptor gene DOID:9007692 Insulin Resistance ISO RGD:733058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18454146 11684114 MC4R melanocortin 4 receptor gene DOID:9008953 Binge-Eating Disorder ISO RGD:733058 D RGD:9068941 20200609 RGD PMID:12646666|REF_RGD_ID:1600752 11684114 MC4R melanocortin 4 receptor gene DOID:9351 diabetes mellitus ISO RGD:733058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10078568|PMID:10199800|PMID:10592235|PMID:10903341|PMID:12364414|PMID:12364415|PMID:12499395|PMID:12629567|PMID:12646665|PMID:12646666|PMID:12690102|PMID:12970296|PMID:14764812|PMID:14973783|PMID:15037865|PMID:154889963|PMID:15585384|PMID:15805150|PMID:15975705|PMID:16030156|PMID:16032553|PMID:16094248|PMID:16274851|PMID:16469222|PMID:16492696|PMID:16507637|PMID:16611215|PMID:16614075|PMID:17286227|PMID:17306938|PMID:17517246|PMID:17519222|PMID:17579204|PMID:17628007|PMID:17986382|PMID:18559663|PMID:19091795|PMID:19179454|PMID:20462274|PMID:22106157|PMID:22492873|PMID:23146882|PMID:23251400|PMID:23505181|PMID:23791567|PMID:24611737|PMID:24890885|PMID:25332687|PMID:25741868|PMID:25741869|PMID:26467025|PMID:27654141|PMID:28492532|PMID:29970488|PMID:31002796|PMID:9267995 11684114 MC4R melanocortin 4 receptor gene DOID:9452 fatty liver disease ISO RGD:735526 D RGD:9068941 20220825 MouseDO OMIM:228100 11684114 MC4R melanocortin 4 receptor gene DOID:9970 obesity ISO RGD:733058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, autosomal dominant PMID:10078568|PMID:10199800|PMID:10577903|PMID:10592235|PMID:10903341|PMID:10903343|PMID:11443223|PMID:12364414|PMID:12364415|PMID:12499395|PMID:12588803|PMID:12629567|PMID:12646665|PMID:12646666|PMID:12690102|PMID:12815165|PMID:12851297|PMID:12959994|PMID:12970296|PMID:14633862|PMID:14764812|PMID:14764818|PMID:14973783|PMID:15037865|PMID:15126516|PMID:15448103|PMID:15466016|PMID:15486053|PMID:15585384|PMID:15805150|PMID:15975705|PMID:16030156|PMID:16032553|PMID:16083993|PMID:16094248|PMID:16231025|PMID:16274851|PMID:16289450|PMID:16469222|PMID:16492696|PMID:16507637|PMID:16611215|PMID:16614075|PMID:16616374|PMID:16710097|PMID:16752916|PMID:16960181|PMID:17185898|PMID:17286227|PMID:17306938|PMID:17357083|PMID:17492953|PMID:17517246|PMID:17519222|PMID:17579204|PMID:17590021|PMID:17628007|PMID:17668051|PMID:17986382|PMID:18559663|PMID:18801902|PMID:18997677|PMID:19011902|PMID:19091795|PMID:19179454|PMID:19184404|PMID:19244934|PMID:19284607|PMID:19298524|PMID:19301229|PMID:19400288|PMID:19417090|PMID:19766264|PMID:19889825|PMID:20462274|PMID:20631012|PMID:20696697|PMID:20826565|PMID:20966905|PMID:20975296|PMID:21085626|PMID:21404042|PMID:22106157|PMID:22447289|PMID:22463805|PMID:22688572|PMID:23146882|PMID:23251400|PMID:23505181|PMID:23791567|PMID:24276017|PMID:24385306|PMID:24512492|PMID:24611737|PMID:24705671|PMID:24780838|PMID:24890885|PMID:25076858|PMID:25136332|PMID:25332687|PMID:25741868|PMID:25741869|PMID:26047380|PMID:26179253|PMID:26238496|PMID:26244670|PMID:26467025|PMID:26588347|PMID:26666384|PMID:26782456|PMID:26788538|PMID:27222505|PMID:27654141|PMID:28166811|PMID:28492532|PMID:29273807|PMID:29311635|PMID:29758564|PMID:29861388|PMID:29970488|PMID:30048591|PMID:30811542|PMID:30926952|PMID:31002796|PMID:31118516|PMID:31841602|PMID:32534219|PMID:32952152|PMID:9267995 11684114 MC4R melanocortin 4 receptor gene DOID:9970 obesity ISO RGD:733058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, autosomal dominant PMID:10078568|PMID:10199800|PMID:10577903|PMID:10592235|PMID:10903341|PMID:10903343|PMID:11443223|PMID:12364414|PMID:12364415|PMID:12499395|PMID:12588803|PMID:12629567|PMID:12646665|PMID:12646666|PMID:12690102|PMID:12815165|PMID:12851297|PMID:12959994|PMID:12970296|PMID:14633862|PMID:14764812|PMID:14764818|PMID:14973783|PMID:15037865|PMID:15126516|PMID:15448103|PMID:15466016|PMID:15486053|PMID:15585384|PMID:15805150|PMID:15975705|PMID:16030156|PMID:16032553|PMID:16083993|PMID:16094248|PMID:16231025|PMID:16274851|PMID:16289450|PMID:16469222|PMID:16492696|PMID:16507637|PMID:16611215|PMID:16614075|PMID:16616374|PMID:16710097|PMID:16752916|PMID:16960181|PMID:17185898|PMID:17286227|PMID:17306938|PMID:17357083|PMID:17492953|PMID:17517246|PMID:17519222|PMID:17579204|PMID:17590021|PMID:17628007|PMID:17668051|PMID:17986382|PMID:18559663|PMID:18801902|PMID:18997677|PMID:19011902|PMID:19091795|PMID:19179454|PMID:19184404|PMID:19244934|PMID:19284607|PMID:19298524|PMID:19301229|PMID:19400288|PMID:19417090|PMID:19766264|PMID:19889825|PMID:20462274|PMID:20631012|PMID:20696697|PMID:20826565|PMID:20966905|PMID:20975296|PMID:21085626|PMID:21404042|PMID:22106157|PMID:22447289|PMID:22463805|PMID:22688572|PMID:23146882|PMID:23251400|PMID:23505181|PMID:23791567|PMID:24276017|PMID:24385306|PMID:24512492|PMID:24611737|PMID:24705671|PMID:24780838|PMID:24890885|PMID:25076858|PMID:25136332|PMID:25332687|PMID:25741868|PMID:25741869|PMID:26047380|PMID:26179253|PMID:26238496|PMID:26244670|PMID:26467025|PMID:26588347|PMID:26666384|PMID:26782456|PMID:26788538|PMID:27222505|PMID:27654141|PMID:28492532|PMID:29273807|PMID:29311635|PMID:29758564|PMID:29861388|PMID:29970488|PMID:30048591|PMID:30811542|PMID:30926952|PMID:31002796|PMID:31118516|PMID:31841602|PMID:32534219|PMID:32952152|PMID:9267995 11684119 PDPK1 3-phosphoinositide dependent protein kinase 1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:732664 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:21173233 11684119 PDPK1 3-phosphoinositide dependent protein kinase 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:732664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11684119 PDPK1 3-phosphoinositide dependent protein kinase 1 gene DOID:10283 prostate cancer treatment ISO RGD:732664 D RGD:9068941 20200611 RGD PMID:26294745|REF_RGD_ID:11534031 11684119 PDPK1 3-phosphoinositide dependent protein kinase 1 gene DOID:1826 epilepsy ISO RGD:732664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11684119 PDPK1 3-phosphoinositide dependent protein kinase 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:732664 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11684119 PDPK1 3-phosphoinositide dependent protein kinase 1 gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:732665 D RGD:9068941 20200611 RGD PMID:17562488|REF_RGD_ID:13506808 11684119 PDPK1 3-phosphoinositide dependent protein kinase 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:732664 D RGD:9068941 20200611 RGD mRNA:increased expression:blood serum PMID:25064732|REF_RGD_ID:13503320 11684119 PDPK1 3-phosphoinositide dependent protein kinase 1 gene DOID:6000 congestive heart failure ISO RGD:732664 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:19429709 11684119 PDPK1 3-phosphoinositide dependent protein kinase 1 gene DOID:630 genetic disease ISO RGD:732664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11684119 PDPK1 3-phosphoinositide dependent protein kinase 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:732664 D RGD:9068941 20200611 RGD associated with non-small cell lung carcinoma;mRNA:increased expression:blood serum PMID:25064732|REF_RGD_ID:13503320 11684119 PDPK1 3-phosphoinositide dependent protein kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732664 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:24739482 11684120 MBNL2 muscleblind like splicing regulator 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1315628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 11684120 MBNL2 muscleblind like splicing regulator 2 gene DOID:630 genetic disease ISO RGD:1315628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11684120 MBNL2 muscleblind like splicing regulator 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1315628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11684144 GRAMD1C GRAM domain containing 1C gene DOID:630 genetic disease ISO RGD:1606791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11684188 BCL7B BAF chromatin remodeling complex subunit BCL7B gene DOID:0060041 autism spectrum disorder ISO RGD:1349003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 11684188 BCL7B BAF chromatin remodeling complex subunit BCL7B gene DOID:10923 sickle cell anemia ISO RGD:1349003 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 11684188 BCL7B BAF chromatin remodeling complex subunit BCL7B gene DOID:12849 autistic disorder ISO RGD:1349003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11684188 BCL7B BAF chromatin remodeling complex subunit BCL7B gene DOID:1928 Williams-Beuren syndrome ISO RGD:1349003 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 11684188 BCL7B BAF chromatin remodeling complex subunit BCL7B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11684188 BCL7B BAF chromatin remodeling complex subunit BCL7B gene DOID:5419 schizophrenia ISO RGD:1349003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11684188 BCL7B BAF chromatin remodeling complex subunit BCL7B gene DOID:630 genetic disease ISO RGD:1349003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11684188 BCL7B BAF chromatin remodeling complex subunit BCL7B gene DOID:8445 intestinal volvulus ISO RGD:1349003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11684188 BCL7B BAF chromatin remodeling complex subunit BCL7B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11684188 BCL7B BAF chromatin remodeling complex subunit BCL7B gene DOID:9008419 Volvulus Of Midgut ISO RGD:1349003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11684198 ATM ATM serine/threonine kinase gene DOID:0040084 Streptococcus pneumonia exacerbates ISO RGD:10199 D RGD:9068941 20210409 RGD PMID:27421701|REF_RGD_ID:126779562 11684198 ATM ATM serine/threonine kinase gene DOID:0050671 female breast cancer susceptibility ISO RGD:1606040 D RGD:9068941 20220609 RGD DNA:missense mutation:cds: (human) PMID:30303537|REF_RGD_ID:152995259 11684198 ATM ATM serine/threonine kinase gene DOID:0050746 mantle cell lymphoma ISO RGD:1606040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mantle cell lymphoma PMID:10706620|PMID:23807571|PMID:25614872|PMID:28492532 11684198 ATM ATM serine/threonine kinase gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413734 11684198 ATM ATM serine/threonine kinase gene DOID:0050753 cerebellar ataxia ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:12810666|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28488180|PMID:28492532|PMID:29909963|PMID:31050087|PMID:9887333 11684198 ATM ATM serine/threonine kinase gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1606040 D RGD:9068941 20210903 RGD protein:increased expression:mucosa of oral region (human) PMID:18288488|PMID:29928356|REF_RGD_ID:150340604|REF_RGD_ID:150340709 11684198 ATM ATM serine/threonine kinase gene DOID:0060058 lymphoma ISO RGD:1593265 D RGD:9068941 20200609 RGD DNA:deletion:exon: PMID:28007901|REF_RGD_ID:12879399 11684198 ATM ATM serine/threonine kinase gene DOID:0060058 lymphoma ISO RGD:1593265 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: PMID:27895165|REF_RGD_ID:12879393 11684198 ATM ATM serine/threonine kinase gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 11684198 ATM ATM serine/threonine kinase gene DOID:0060071 pre-malignant neoplasm ISO RGD:1593265 D RGD:9068941 20200609 RGD protein:decreased expression:hepatocyte PMID:11751435|REF_RGD_ID:1599367 11684198 ATM ATM serine/threonine kinase gene DOID:0070271 Lynch syndrome 1 ISO RGD:1606040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868 11684198 ATM ATM serine/threonine kinase gene DOID:0080158 herpes simplex virus keratitis ameliorates ISO RGD:10199 D RGD:9068941 20210416 RGD PMID:24370835|REF_RGD_ID:126781690 11684198 ATM ATM serine/threonine kinase gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11684198 ATM ATM serine/threonine kinase gene DOID:0081042 T-cell prolymphocytic leukemia ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: T-cell prolymphocytic leukemia PMID:10817650|PMID:11382771|PMID:11805335|PMID:11830610|PMID:12195425|PMID:12552559|PMID:16958054|PMID:17001622|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19781682|PMID:20301790|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22529920|PMID:22585167|PMID:22649200|PMID:23807571|PMID:24088041|PMID:24733792|PMID:25186627|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26506520|PMID:26556299|PMID:26633545|PMID:26662178|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29719442|PMID:29915382|PMID:30549301|PMID:31447099|PMID:31948886|PMID:32338768|PMID:32853339|PMID:33509806|PMID:6504056|PMID:7792600|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9150358|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9463314|PMID:9537233 11684198 ATM ATM serine/threonine kinase gene DOID:10283 prostate cancer ISO RGD:1606040 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532 11684198 ATM ATM serine/threonine kinase gene DOID:10534 stomach cancer ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10706620|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11298136|PMID:11756177|PMID:12149228|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:15039971|PMID:15101044|PMID:15164409|PMID:15390180|PMID:15843990|PMID:16199547|PMID:16266405|PMID:16941484|PMID:17124347|PMID:17376192|PMID:17576681|PMID:17910737|PMID:17968022|PMID:18321536|PMID:18431795|PMID:18560558|PMID:18573109|PMID:18634022|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19691550|PMID:20153123|PMID:20301790|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21792198|PMID:21933854|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22213089|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22649200|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23561644|PMID:23566627|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23807571|PMID:24172824|PMID:24368146|PMID:24405665|PMID:24789685|PMID:24935205|PMID:24954719|PMID:25037873|PMID:25077176|PMID:25122203|PMID:25186627|PMID:25303977|PMID:25374739|PMID:25525159|PMID:25614872|PMID:25625042|PMID:25741868|PMID:26022348|PMID:26094658|PMID:26098866|PMID:26270727|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26628246|PMID:26677768|PMID:26681312|PMID:26846839|PMID:26896183|PMID:27121310|PMID:27159176|PMID:27433846|PMID:27664052|PMID:27732944|PMID:27779110|PMID:27884168|PMID:27913932|PMID:27989354|PMID:28139868|PMID:28152038|PMID:28195393|PMID:28281021|PMID:28492532|PMID:28497333|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28843361|PMID:29368341|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29665859|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29906526|PMID:29909963|PMID:29922827|PMID:29946849|PMID:30093976|PMID:30287823|PMID:30322717|PMID:30402232|PMID:30549301|PMID:30607632|PMID:30620386|PMID:30697212|PMID:30772474|PMID:30816533|PMID:30982232|PMID:31050087|PMID:31118792|PMID:31139954|PMID:31214711|PMID:31263571|PMID:31447099|PMID:31472684|PMID:31589614|PMID:31611883|PMID:31691010|PMID:31784493|PMID:31794323|PMID:31843900|PMID:31948886|PMID:32002120|PMID:32068069|PMID:32338768|PMID:32427313|PMID:32471518|PMID:32521533|PMID:32566746|PMID:32694154|PMID:32754152|PMID:32810930|PMID:32885271|PMID:32918381|PMID:32980694|PMID:33280026|PMID:33436325|PMID:33471991|PMID:34873480|PMID:36988593|PMID:7792600|PMID:8698354|PMID:8755918|PMID:8808599|PMID:8845835|PMID:9334731|PMID:9443866|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9711876|PMID:9872980|PMID:9887333 11684198 ATM ATM serine/threonine kinase gene DOID:10534 stomach cancer severity ISO RGD:1606040 D RGD:9068941 20210827 RGD protein:decreased expression:mucosa of stomach (human) PMID:23649938|REF_RGD_ID:150340700 11684198 ATM ATM serine/threonine kinase gene DOID:10534 stomach cancer severity ISO RGD:1606040 D RGD:9068941 20210903 RGD protein:decreased phosphorylation:stomach (human) PMID:17928013|REF_RGD_ID:150340715 11684198 ATM ATM serine/threonine kinase gene DOID:1059 intellectual disability ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11684198 ATM ATM serine/threonine kinase gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:1606040 D RGD:9068941 20200609 RGD PMID:23861893|REF_RGD_ID:10047419 11684198 ATM ATM serine/threonine kinase gene DOID:10907 microcephaly ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:19781682|PMID:25741868|PMID:28492532|PMID:30287823|PMID:31871109|PMID:32068069|PMID:32566746 11684198 ATM ATM serine/threonine kinase gene DOID:11054 urinary bladder cancer ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121791 11684198 ATM ATM serine/threonine kinase gene DOID:11476 osteoporosis ISO RGD:10199 D RGD:9068941 20200609 RGD PMID:16644862|REF_RGD_ID:10047420 11684198 ATM ATM serine/threonine kinase gene DOID:1240 leukemia ISO RGD:1593265 D RGD:9068941 20200609 RGD DNA:deletion:exon: PMID:28007901|REF_RGD_ID:12879399 11684198 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:7240710 20230517 OMIM 11684198 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601 11684198 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653 11684198 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:28423360|PMID:28423363|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28956312|PMID:28975018|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30713859|PMID:30713931|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:3280694|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32958592|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33047316|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411 11684198 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34453918|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34820595|PMID:34994613|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 11684198 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971 11684198 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360 11684198 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:28423363|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28956312|PMID:28975018|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30713859|PMID:30713931|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:3280694|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32958592|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33047316|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313 11684198 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34453918|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34820595|PMID:34994613|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 11684198 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363 11684198 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28956312|PMID:28975018|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30713859|PMID:30713931|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:3280694|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32958592|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33047316|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920 11684198 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34453918|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34820595|PMID:34994613|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 11684198 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601 11684198 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476 11684198 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152 11684198 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34270679|PMID:34284872|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35201558|PMID:35260754|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35980532|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 11684198 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193 11684198 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368 11684198 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151 11684198 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34270679|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35145552|PMID:35186721|PMID:35201558|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35980532|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 11684198 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152 11684198 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566 11684198 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388 11684198 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35145552|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36200007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 11684198 ATM ATM serine/threonine kinase gene DOID:12930 dilated cardiomyopathy ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24358288 11684198 ATM ATM serine/threonine kinase gene DOID:1319 brain cancer ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brain cancer 11684198 ATM ATM serine/threonine kinase gene DOID:1324 lung cancer ISO RGD:1606040 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:21665257 11684198 ATM ATM serine/threonine kinase gene DOID:1380 endometrial cancer susceptibility ISO RGD:1606040 D RGD:9068941 20200609 RGD PMID:17164260|REF_RGD_ID:2293868 11684198 ATM ATM serine/threonine kinase gene DOID:14330 Parkinson's disease ISO RGD:1606040 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:cingulate gyrus PMID:20502937|REF_RGD_ID:10053605 11684198 ATM ATM serine/threonine kinase gene DOID:14566 disease of cellular proliferation ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm 11684198 ATM ATM serine/threonine kinase gene DOID:14723 beta-ketothiolase deficiency ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:28492532 11684198 ATM ATM serine/threonine kinase gene DOID:1520 colon carcinoma ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:10817650|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12882767|PMID:12935933|PMID:14695997|PMID:15101044|PMID:15280931|PMID:15880721|PMID:16574953|PMID:16631465|PMID:16832357|PMID:17023046|PMID:17333338|PMID:17341484|PMID:17393301|PMID:17517479|PMID:17623063|PMID:17640065|PMID:19404735|PMID:19431188|PMID:19781682|PMID:20305132|PMID:20826828|PMID:21787400|PMID:21833744|PMID:21933854|PMID:22369572|PMID:22529920|PMID:23091097|PMID:23555315|PMID:23585524|PMID:23807571|PMID:24142997|PMID:24416720|PMID:24728327|PMID:25148578|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25523272|PMID:25587027|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26009992|PMID:26123645|PMID:26207792|PMID:26467025|PMID:26580448|PMID:26898890|PMID:26901136|PMID:27146902|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:29522266|PMID:29641532|PMID:29659569|PMID:30256826|PMID:30303537|PMID:30613976|PMID:31159747|PMID:31415627|PMID:31742824|PMID:32522261|PMID:33471991|PMID:34262154|PMID:34646395|PMID:9792409|PMID:9887333 11684198 ATM ATM serine/threonine kinase gene DOID:1520 colon carcinoma ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10425038|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12882767|PMID:12935933|PMID:14695997|PMID:14754616|PMID:15101044|PMID:15280931|PMID:15880721|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16832357|PMID:17000706|PMID:17023046|PMID:17333338|PMID:17341484|PMID:17351744|PMID:17393301|PMID:17502119|PMID:17517479|PMID:17623063|PMID:17640065|PMID:17910737|PMID:19404735|PMID:19431188|PMID:19781682|PMID:20305132|PMID:20826828|PMID:21787400|PMID:21833744|PMID:21933854|PMID:22369572|PMID:22529920|PMID:23091097|PMID:23555315|PMID:23585524|PMID:23807571|PMID:24142997|PMID:24416720|PMID:24728327|PMID:25148578|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25523272|PMID:25587027|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26009992|PMID:26123645|PMID:26207792|PMID:26467025|PMID:26580448|PMID:26689913|PMID:26898890|PMID:26901136|PMID:27146902|PMID:27224988|PMID:27365426|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:29522266|PMID:29641532|PMID:29659569|PMID:30256826|PMID:30303537|PMID:30613976|PMID:31159747|PMID:31415627|PMID:31742824|PMID:32522261|PMID:33191115|PMID:33471991|PMID:34262154|PMID:34646395|PMID:9792409|PMID:9887333 11684198 ATM ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:7240710 20230517 OMIM 11684198 ATM ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26854966|PMID:26878173|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087 11684198 ATM ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28188106|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30814645|PMID:30883245|PMID:30938815|PMID:30995915|PMID:31050087|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31867841|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:32039725|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32906206|PMID:32958592|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33747920|PMID:34262154|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 11684198 ATM ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26854966|PMID:26878173|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332 11684198 ATM ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28188106|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30814645|PMID:30883245|PMID:30938815|PMID:30995915|PMID:31050087|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:32039725|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32906206|PMID:32958592|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33747920|PMID:34262154|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 11684198 ATM ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160 11684198 ATM ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32906206|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34262154|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 11684198 ATM ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 11684198 ATM ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310 11684198 ATM ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 11684198 ATM ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186 11684198 ATM ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 11684198 ATM ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 11684198 ATM ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775 11684198 ATM ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 11684198 ATM ATM serine/threonine kinase gene DOID:1612 breast cancer susceptibility ISO RGD:1606040 D RGD:9068941 20230518 RGD PMID:11200774|REF_RGD_ID:1643350 11684198 ATM ATM serine/threonine kinase gene DOID:1749 squamous cell carcinoma ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25125259 11684198 ATM ATM serine/threonine kinase gene DOID:1781 thyroid gland cancer ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid cancer PMID:28492532 11684198 ATM ATM serine/threonine kinase gene DOID:1793 pancreatic cancer ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098866|PMID:26098869 11684198 ATM ATM serine/threonine kinase gene DOID:1793 pancreatic cancer ISO RGD:1606040 D RGD:9068941 20200609 RGD DNA:SNP: :60G>A(human) PMID:18381943|REF_RGD_ID:2317234 11684198 ATM ATM serine/threonine kinase gene DOID:1793 pancreatic cancer ISO RGD:1606040 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs664677 (human) PMID:16520463|REF_RGD_ID:2317367 11684198 ATM ATM serine/threonine kinase gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1606040 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs1801516(human) PMID:19147782|REF_RGD_ID:2317363 11684198 ATM ATM serine/threonine kinase gene DOID:1824 status epilepticus ISO RGD:1593265 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:11852039|REF_RGD_ID:1599366 11684198 ATM ATM serine/threonine kinase gene DOID:1909 melanoma ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983787 11684198 ATM ATM serine/threonine kinase gene DOID:219 colon cancer ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon cancer 11684198 ATM ATM serine/threonine kinase gene DOID:2349 arteriosclerosis susceptibility ISO RGD:10199 D RGD:9068941 20200609 RGD PMID:15863839|REF_RGD_ID:1601249 11684198 ATM ATM serine/threonine kinase gene DOID:2394 ovarian cancer ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:10330348|PMID:10817650|PMID:10873394|PMID:11756185|PMID:11996792|PMID:12473594|PMID:12552559|PMID:12673797|PMID:12917204|PMID:12935922|PMID:14706517|PMID:15756685|PMID:17333338|PMID:18634022|PMID:19404735|PMID:19781682|PMID:20305132|PMID:21665257|PMID:21933854|PMID:21993670|PMID:22529920|PMID:22585167|PMID:23555315|PMID:23807571|PMID:24728327|PMID:25318351|PMID:25326635|PMID:25503501|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26094658|PMID:26155992|PMID:26270727|PMID:26467025|PMID:26530882|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26976419|PMID:27093186|PMID:27878467|PMID:27913932|PMID:28007021|PMID:28008555|PMID:28135048|PMID:28135145|PMID:28281318|PMID:28492532|PMID:28580595|PMID:28652578|PMID:28726808|PMID:28779002|PMID:29522266|PMID:29641532|PMID:29684080|PMID:30093976|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30549301|PMID:31050087|PMID:31159747|PMID:31248605|PMID:31666926|PMID:31742824|PMID:31780696|PMID:31867841|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32107087|PMID:32566746|PMID:32866190|PMID:32936981|PMID:33206719|PMID:33436325|PMID:33471991|PMID:33552952|PMID:35245693|PMID:35264596|PMID:8659541|PMID:9443866|PMID:9463314|PMID:9872980 11684198 ATM ATM serine/threonine kinase gene DOID:2871 endometrial carcinoma ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10425038|PMID:11298136|PMID:12673797|PMID:12810666|PMID:12815592|PMID:1300551|PMID:133608|PMID:19781682|PMID:21787400|PMID:23322442|PMID:23555315|PMID:23807571|PMID:24728327|PMID:25186627|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26787654|PMID:26837699|PMID:27443514|PMID:28492532|PMID:29486991|PMID:29659569|PMID:30651582|PMID:31050087|PMID:31159747|PMID:31206626|PMID:31611883|PMID:31920950|PMID:33280026|PMID:33436325|PMID:33558524|PMID:34204722|PMID:8845835|PMID:8968760 11684198 ATM ATM serine/threonine kinase gene DOID:299 adenocarcinoma ISO RGD:1606040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma PMID:10330348|PMID:10817650|PMID:10980530|PMID:12810666|PMID:15390180|PMID:16266405|PMID:17576681|PMID:20153123|PMID:22585167|PMID:25614872|PMID:25741868|PMID:26506520|PMID:27159176|PMID:28492532|PMID:36988593|PMID:9536098|PMID:9887333 11684198 ATM ATM serine/threonine kinase gene DOID:3068 glioblastoma ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:19781682|PMID:23322442|PMID:25525159|PMID:25741868|PMID:26467025|PMID:9054948 11684198 ATM ATM serine/threonine kinase gene DOID:3070 high grade glioma ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant glioma PMID:10330348|PMID:10817650|PMID:10980530|PMID:11298136|PMID:21445571|PMID:21459046|PMID:21792198|PMID:25741868|PMID:26681312|PMID:28492532|PMID:29478780|PMID:30549301|PMID:33471991|PMID:8659541|PMID:8808599|PMID:9000145|PMID:9463314 11684198 ATM ATM serine/threonine kinase gene DOID:3459 breast carcinoma ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast | ClinVar Annotator: match by term: Multifocal breast carcinoma PMID:10330348|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11606401|PMID:11805335|PMID:12810666|PMID:12815592|PMID:15039971|PMID:15279808|PMID:15390180|PMID:16014569|PMID:16266405|PMID:16832357|PMID:16864838|PMID:17124347|PMID:17344846|PMID:17576681|PMID:18384426|PMID:18634022|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19691550|PMID:20153123|PMID:20301790|PMID:21354641|PMID:21445571|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21933854|PMID:21965147|PMID:22146522|PMID:22213089|PMID:22529920|PMID:22585167|PMID:23264026|PMID:23585524|PMID:23807571|PMID:25077176|PMID:25122203|PMID:25479140|PMID:2557216|PMID:25572163|PMID:25614872|PMID:25741868|PMID:25957637|PMID:25980754|PMID:26467025|PMID:26506520|PMID:26681312|PMID:26787654|PMID:26837699|PMID:26976419|PMID:27159176|PMID:27433846|PMID:27484032|PMID:27664052|PMID:27884168|PMID:28120234|PMID:28126470|PMID:28492532|PMID:28580595|PMID:28652578|PMID:28726808|PMID:28779002|PMID:28843361|PMID:29478780|PMID:29909963|PMID:30303537|PMID:30322717|PMID:30549301|PMID:30579816|PMID:30819809|PMID:31050087|PMID:31159747|PMID:31741144|PMID:32658311|PMID:32854451|PMID:32957588|PMID:33280026|PMID:8755918|PMID:9463314|PMID:9536098|PMID:9622061|PMID:9887333 11684198 ATM ATM serine/threonine kinase gene DOID:3459 breast carcinoma ISO RGD:1606040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Multifocal breast carcinoma PMID:10330348|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11606401|PMID:11805335|PMID:12810666|PMID:12815592|PMID:15039971|PMID:15279808|PMID:15390180|PMID:16014569|PMID:16266405|PMID:16832357|PMID:16864838|PMID:17124347|PMID:17344846|PMID:17576681|PMID:18384426|PMID:18634022|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19691550|PMID:20153123|PMID:20301790|PMID:21354641|PMID:21445571|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21933854|PMID:21965147|PMID:22146522|PMID:22213089|PMID:22529920|PMID:22585167|PMID:23264026|PMID:23585524|PMID:23807571|PMID:25077176|PMID:25122203|PMID:25479140|PMID:2557216|PMID:25572163|PMID:25614872|PMID:25741868|PMID:25957637|PMID:25980754|PMID:26467025|PMID:26506520|PMID:26681312|PMID:26787654|PMID:26837699|PMID:26976419|PMID:27159176|PMID:27433846|PMID:27484032|PMID:27664052|PMID:27884168|PMID:28120234|PMID:28126470|PMID:28492532|PMID:28580595|PMID:28652578|PMID:28726808|PMID:28779002|PMID:28843361|PMID:29478780|PMID:29909963|PMID:30303537|PMID:30322717|PMID:30549301|PMID:30579816|PMID:30819809|PMID:31050087|PMID:31159747|PMID:31741144|PMID:32658311|PMID:32854451|PMID:32957588|PMID:33280026|PMID:36988593|PMID:8755918|PMID:9463314|PMID:9536098|PMID:9622061|PMID:9887333 11684198 ATM ATM serine/threonine kinase gene DOID:3459 breast carcinoma disease_progression ISO RGD:1606040 D RGD:9068941 20200609 RGD protein:decreased expression:lymph node PMID:10748873|REF_RGD_ID:1643351 11684198 ATM ATM serine/threonine kinase gene DOID:3571 liver cancer ameliorates ISO RGD:10199 D RGD:9068941 20210903 RGD PMID:19919837|REF_RGD_ID:150340702 11684198 ATM ATM serine/threonine kinase gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1606040 D RGD:9068941 20210903 RGD Smoke Inhalation Injury; mRNA:increased expression:esophagus (human) PMID:17019709|REF_RGD_ID:150340713 11684198 ATM ATM serine/threonine kinase gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1606040 D RGD:9068941 20210903 RGD DNA:SNP:intron:(rs228589) (human) PMID:28642860|REF_RGD_ID:150383339 11684198 ATM ATM serine/threonine kinase gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1606040 D RGD:9068941 20210903 RGD DNA:SNPs,haplotypes:intron: (rs227060, rs170548) (human) PMID:17582598|REF_RGD_ID:150383340 11684198 ATM ATM serine/threonine kinase gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1606040 D RGD:9068941 20210903 RGD human cells in mouse model PMID:23632475|REF_RGD_ID:150404268 11684198 ATM ATM serine/threonine kinase gene DOID:3944 Arenaviridae infectious disease ISO RGD:10199 D RGD:9068941 20210409 RGD PMID:21641396|REF_RGD_ID:126779561 11684198 ATM ATM serine/threonine kinase gene DOID:3948 adrenocortical carcinoma ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 11684198 ATM ATM serine/threonine kinase gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Papillary thyroid carcinoma PMID:19404735|PMID:20305132|PMID:25186627|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26901136|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28717660|PMID:28779002|PMID:29659569|PMID:30256826|PMID:30303537|PMID:30613976|PMID:31159747|PMID:31742824|PMID:32522261|PMID:33471991|PMID:34262154|PMID:34646395 11684198 ATM ATM serine/threonine kinase gene DOID:4001 ovarian carcinoma ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:10330348|PMID:10817650|PMID:16461462|PMID:17124347|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532 11684198 ATM ATM serine/threonine kinase gene DOID:4450 renal cell carcinoma ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:10571946 11684198 ATM ATM serine/threonine kinase gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:10980530|PMID:18560558|PMID:19431188|PMID:19691550|PMID:19779456|PMID:25186627|PMID:25741868|PMID:26628246|PMID:28492532|PMID:29522266|PMID:33747920|PMID:8755918|PMID:9792409 11684198 ATM ATM serine/threonine kinase gene DOID:4606 bile duct cancer ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bile duct cancer PMID:17124347|PMID:20077034|PMID:25741868|PMID:26635394|PMID:28492532|PMID:9887333 11684198 ATM ATM serine/threonine kinase gene DOID:4905 pancreatic carcinoma ISO RGD:1606040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:10330348|PMID:10817650|PMID:10980530|PMID:12497634|PMID:12673797|PMID:12810666|PMID:14586414|PMID:14970866|PMID:15101044|PMID:15390180|PMID:16266405|PMID:17576681|PMID:1849795|PMID:18497957|PMID:20153123|PMID:21833744|PMID:22585167|PMID:23454770|PMID:23807571|PMID:24556621|PMID:25614872|PMID:25741868|PMID:26483394|PMID:26506520|PMID:26822949|PMID:27159176|PMID:28492532|PMID:32295079|PMID:3338800|PMID:36988593|PMID:8808599|PMID:9443866|PMID:9536098|PMID:9887333 11684198 ATM ATM serine/threonine kinase gene DOID:5082 liver cirrhosis ISO RGD:1606040 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:36526012 11684198 ATM ATM serine/threonine kinase gene DOID:5223 infertility ISO RGD:1593265 D RGD:9068941 20200609 RGD DNA:deletion:exon: PMID:28007901|REF_RGD_ID:12879399 11684198 ATM ATM serine/threonine kinase gene DOID:5223 infertility ISO RGD:1593265 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: PMID:27895165|REF_RGD_ID:12879393 11684198 ATM ATM serine/threonine kinase gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1606040 D RGD:9068941 20210430 RGD protein:decreased expression:T cell (human) PMID:31781094|REF_RGD_ID:126790561 11684198 ATM ATM serine/threonine kinase gene DOID:5409 lung small cell carcinoma susceptibility ISO RGD:1606040 D RGD:9068941 20210903 RGD DNA:SNP:intron:(rs227060) (human) PMID:28642860|REF_RGD_ID:150383339 11684198 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11996792|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24451234|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25148578|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176 11684198 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:30541756|PMID:30549301|PMID:30553997|PMID:30819809|PMID:30851086|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31422574|PMID:31428572|PMID:31666926|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:32039725|PMID:32068069|PMID:32183364|PMID:32295079|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32866190|PMID:32958592|PMID:32986223|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33436325|PMID:33471991|PMID:33606809|PMID:33630411|PMID:34204722|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 11684198 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24451234|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460 11684198 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28492532|PMID:28503720|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30819809|PMID:30851086|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33747920|PMID:33850299|PMID:34204722|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 11684198 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326637|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476 11684198 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28451460|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30819809|PMID:30851086|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34204722|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 11684198 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30772474|PMID:30819809|PMID:30851086|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34204722|PMID:34359559|PMID:34646395|PMID:34994613|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 11684198 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393 11684198 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30772474|PMID:30819809|PMID:30851086|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34204722|PMID:34262154|PMID:34359559|PMID:34646395|PMID:34994613|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 11684198 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063 11684198 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30772474|PMID:30819809|PMID:30851086|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34204722|PMID:34262154|PMID:34359559|PMID:34646395|PMID:34994613|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 11684198 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27989354 11684198 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34994613|PMID:35534218|PMID:35666082|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 11684198 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326637|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426 11684198 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34994613|PMID:35039564|PMID:35245693|PMID:35264596|PMID:35534218|PMID:35666082|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 11684198 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234 11684198 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34994613|PMID:35039564|PMID:35245693|PMID:35264596|PMID:35534218|PMID:35666082|PMID:35892882|PMID:35893033|PMID:36200007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 11684198 ATM ATM serine/threonine kinase gene DOID:5750 endometrial serous adenocarcinoma ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial serous adenocarcinoma 11684198 ATM ATM serine/threonine kinase gene DOID:5844 myocardial infarction ISO RGD:10199 D RGD:9068941 20200609 RGD PMID:24358288|REF_RGD_ID:10053570 11684198 ATM ATM serine/threonine kinase gene DOID:5844 myocardial infarction ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24358288 11684198 ATM ATM serine/threonine kinase gene DOID:630 genetic disease ISO RGD:1606040 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20305132|PMID:25356970|PMID:25741868|PMID:25980754|PMID:26053404|PMID:28492532|PMID:28652578|PMID:28779002|PMID:29778231|PMID:33471991 11684198 ATM ATM serine/threonine kinase gene DOID:6741 bilateral breast cancer ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral breast carcinoma PMID:19781682|PMID:25741868|PMID:26689913|PMID:26787654|PMID:28492532|PMID:31159747|PMID:31206626|PMID:32283892|PMID:33471991 11684198 ATM ATM serine/threonine kinase gene DOID:684 hepatocellular carcinoma ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19919837 11684198 ATM ATM serine/threonine kinase gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1606040 D RGD:9068941 20210423 RGD protein:increased expression:liver (human) PMID:12866955|REF_RGD_ID:126781750 11684198 ATM ATM serine/threonine kinase gene DOID:687 hepatoblastoma ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:11756177|PMID:16832357|PMID:17333338|PMID:19781682|PMID:20305132|PMID:21665257|PMID:24728327|PMID:25186627|PMID:25741868|PMID:26689913|PMID:26787654|PMID:26837699|PMID:27913932|PMID:28492532|PMID:29522266|PMID:30303537|PMID:31780696|PMID:33128190|PMID:33471991|PMID:34262154 11684198 ATM ATM serine/threonine kinase gene DOID:83 cataract ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16799786 11684198 ATM ATM serine/threonine kinase gene DOID:8634 prostate carcinoma in situ ISO RGD:1606040 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:prostate gland PMID:16997395|REF_RGD_ID:2293869 11684198 ATM ATM serine/threonine kinase gene DOID:8997 polycythemia vera ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycythemia rubra vera 11684198 ATM ATM serine/threonine kinase gene DOID:9000039 Spinal Cord Injuries ISO RGD:1593265 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:21748659|REF_RGD_ID:10053608 11684198 ATM ATM serine/threonine kinase gene DOID:9000099 Experimental Colitis exacerbates ISO RGD:10199 D RGD:9068941 20210423 RGD PMID:20179206|REF_RGD_ID:126781749 11684198 ATM ATM serine/threonine kinase gene DOID:9000113 Pneumococcal Meningitis ameliorates ISO RGD:10199 D RGD:9068941 20210423 RGD PMID:15529270|REF_RGD_ID:126781748 11684198 ATM ATM serine/threonine kinase gene DOID:9000217 Stomach Neoplasms ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098866 11684198 ATM ATM serine/threonine kinase gene DOID:9000371 influenza A exacerbates ISO RGD:10199 D RGD:9068941 20210409 RGD PMID:31509427|REF_RGD_ID:126779564 11684198 ATM ATM serine/threonine kinase gene DOID:9000784 Fibrosis ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24358288 11684198 ATM ATM serine/threonine kinase gene DOID:9000808 Hypercholesterolemia susceptibility ISO RGD:10199 D RGD:9068941 20200609 RGD PMID:15863839|REF_RGD_ID:1601249 11684198 ATM ATM serine/threonine kinase gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21177254 11684198 ATM ATM serine/threonine kinase gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24358288 11684198 ATM ATM serine/threonine kinase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17968022 11684198 ATM ATM serine/threonine kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17502119|PMID:25415046|PMID:26098866|PMID:29610475 11684198 ATM ATM serine/threonine kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606040 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:14983937|REF_RGD_ID:2293870 11684198 ATM ATM serine/threonine kinase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms 11684198 ATM ATM serine/threonine kinase gene DOID:9002834 Herpesviridae Infections ameliorates ISO RGD:10199 D RGD:9068941 20210416 RGD PMID:22993144|PMID:28701397|REF_RGD_ID:126781689|REF_RGD_ID:126781691 11684198 ATM ATM serine/threonine kinase gene DOID:9002928 Colonic Neoplasms ISO RGD:1606040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colonic neoplasm PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:30482293|PMID:32658311 11684198 ATM ATM serine/threonine kinase gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma PMID:10330348|PMID:10864201|PMID:11606401|PMID:12362033|PMID:12552559|PMID:12815592|PMID:15039971|PMID:15843990|PMID:16832357|PMID:17124347|PMID:18384426|PMID:19691550|PMID:19781682|PMID:20301790|PMID:21445571|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21965147|PMID:22146522|PMID:22585167|PMID:22649200|PMID:23585524|PMID:23807571|PMID:24416720|PMID:25077176|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26023681|PMID:26467025|PMID:26667234|PMID:26681312|PMID:26976419|PMID:27034805|PMID:27433846|PMID:27484032|PMID:27664052|PMID:27884168|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28779002|PMID:29641532|PMID:30549301|PMID:31882575|PMID:32566746|PMID:32853339|PMID:32885271|PMID:33280026|PMID:33471991|PMID:8755918|PMID:9443866|PMID:9463314|PMID:9887333 11684198 ATM ATM serine/threonine kinase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11684198 ATM ATM serine/threonine kinase gene DOID:9004484 Sepsis treatment ISO RGD:10199 D RGD:9068941 20210423 RGD PMID:24184056|REF_RGD_ID:126781746 11684198 ATM ATM serine/threonine kinase gene DOID:9004590 Acute Liver Failure treatment ISO RGD:10199 D RGD:9068941 20200609 RGD PMID:21224054|REF_RGD_ID:10053606 11684198 ATM ATM serine/threonine kinase gene DOID:9004590 Acute Liver Failure treatment ISO RGD:1593265 D RGD:9068941 20200609 RGD PMID:24565947|REF_RGD_ID:10053604 11684198 ATM ATM serine/threonine kinase gene DOID:9005539 Familial Prostate Cancer ISO RGD:1606040 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary prostate cancer PMID:16199547|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:30322717|PMID:32866655|PMID:34654685 11684198 ATM ATM serine/threonine kinase gene DOID:9005628 Ataxia-Telangiectasia Variant ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ataxia - telangiectasia variant PMID:10330348|PMID:11382771|PMID:11826028|PMID:11830610|PMID:14654357|PMID:15054841|PMID:15174027|PMID:16958054|PMID:17001622|PMID:17576681|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19535770|PMID:19781682|PMID:19823873|PMID:20301790|PMID:21787400|PMID:21792198|PMID:22345219|PMID:22529920|PMID:22585167|PMID:23143971|PMID:24088041|PMID:24733792|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25186627|PMID:25741868|PMID:25914063|PMID:25980754|PMID:26506520|PMID:26633545|PMID:26662178|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27884168|PMID:27978560|PMID:27988859|PMID:28008555|PMID:28492532|PMID:28779002|PMID:29719442|PMID:29915382|PMID:30504431|PMID:30549301|PMID:33509806|PMID:8755918|PMID:8808599|PMID:9000145|PMID:9288106|PMID:9463314|PMID:9536098|PMID:9792410|PMID:9887333 11684198 ATM ATM serine/threonine kinase gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor disease_progression ISO RGD:1606040 D RGD:9068941 20210903 RGD associated with Neoplasm Metastasis;mRNA, protein: decreased expression:gastrointestinal system, multiple (human) PMID:22485171|REF_RGD_ID:150340716 11684198 ATM ATM serine/threonine kinase gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1593265 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:22768306|REF_RGD_ID:10053607 11684198 ATM ATM serine/threonine kinase gene DOID:9006269 Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dwarfism, low-birth-weight type, with unresponsiveness to growth hormone PMID:11443540|PMID:19781682|PMID:25741868|PMID:26467025|PMID:26689913|PMID:28492532|PMID:28779002|PMID:33471991 11684198 ATM ATM serine/threonine kinase gene DOID:9006644 Retroviridae Infections ameliorates ISO RGD:10199 D RGD:9068941 20210423 RGD PMID:15661267|REF_RGD_ID:126781747 11684198 ATM ATM serine/threonine kinase gene DOID:9006646 Metabolic Syndrome ISO RGD:10199 D RGD:9068941 20200609 RGD PMID:17084711|REF_RGD_ID:1601248 11684198 ATM ATM serine/threonine kinase gene DOID:9006815 Otorhinolaryngologic Neoplasms severity ISO RGD:1606040 D RGD:9068941 20210903 RGD mRNA:decreased expression:pharynx,larynx (human) PMID:21127011|REF_RGD_ID:150340703 11684198 ATM ATM serine/threonine kinase gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:10571946 11684198 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24451234|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28188106|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191 11684198 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28956312|PMID:28975018|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29866652|PMID:29888287|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30713859|PMID:30713931|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31360874|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31719806|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32107087|PMID:32125938|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32810930|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32906206|PMID:32918381|PMID:32958592|PMID:32986223|PMID:33011440|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33747920|PMID:33850299|PMID:34204722|PMID:34262154|PMID:34299313|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 11684198 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266 11684198 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308 11684198 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145 11684198 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556 11684198 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35186721|PMID:35201558|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35980532|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 11684198 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201 11684198 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075 11684198 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615 11684198 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35186721|PMID:35201558|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35980532|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 11684198 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21270786|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595 11684198 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25974703|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368 11684198 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28590052|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087 11684198 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193 11684198 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075 11684198 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261 11684198 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36200007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 11684198 ATM ATM serine/threonine kinase gene DOID:9007502 Brain Neoplasms ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant brain neoplasm 11684198 ATM ATM serine/threonine kinase gene DOID:9007692 Insulin Resistance ISO RGD:1593265 D RGD:9068941 20200609 RGD protein:decreased expression:muscle: PMID:18534819|REF_RGD_ID:8693659 11684198 ATM ATM serine/threonine kinase gene DOID:9007692 Insulin Resistance treatment ISO RGD:1606040 D RGD:9068941 20210416 RGD Associated with human immunodeficiency virus infectious disease, hepatitis C;DNA:SNP:intron: (rs11212617) (human) PMID:23171036|REF_RGD_ID:126781688 11684198 ATM ATM serine/threonine kinase gene DOID:9008114 Helicobacter Infections ISO RGD:1606040 D RGD:9068941 20210430 RGD associated with gastritis;mRNA:increased expression:mucosa of stomach (human) PMID:25069978|REF_RGD_ID:126790566 11684198 ATM ATM serine/threonine kinase gene DOID:9008114 Helicobacter Infections ISO RGD:1606040 D RGD:9068941 20210430 RGD associated with stomach cancer;mRNA:increased expression:stomach (human) PMID:29128564|REF_RGD_ID:126790563 11684198 ATM ATM serine/threonine kinase gene DOID:9008257 Multiple Polyps and Recurrent Inflammatory Fibroid, Gastrointestinal ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal PMID:25741868|PMID:28492532 11684198 ATM ATM serine/threonine kinase gene DOID:9008603 Rhabdoviridae Infections ameliorates ISO RGD:10199 D RGD:9068941 20210430 RGD PMID:25692705|REF_RGD_ID:126790565 11684198 ATM ATM serine/threonine kinase gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:1606040 D RGD:9068941 20210903 RGD associated with lung cancer;DNA:SNPs:promoter:���111G>A,126713G>A (rs189037, s373759) (human) PMID:20171797|REF_RGD_ID:150340755 11684198 ATM ATM serine/threonine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:10817650|PMID:11382771|PMID:11805335|PMID:11830610|PMID:12195425|PMID:12552559|PMID:16958054|PMID:17001622|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19781682|PMID:20301790|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22529920|PMID:22585167|PMID:22649200|PMID:24088041|PMID:24733792|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26506520|PMID:26556299|PMID:26633545|PMID:26662178|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29719442|PMID:29915382|PMID:30549301|PMID:31447099|PMID:31948886|PMID:32338768|PMID:32853339|PMID:33509806|PMID:6504056|PMID:7792600|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9537233 11684198 ATM ATM serine/threonine kinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10571946|PMID:10677309|PMID:10706620|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15643608|PMID:15756685|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17344846|PMID:17351744|PMID:17376192|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18431795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19691550|PMID:19705055|PMID:19770270|PMID:19773425|PMID:19781682|PMID:19823873|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20966255|PMID:21150274|PMID:21164480|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21593342|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24204193|PMID:24325359|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24920063|PMID:24935205|PMID:24954719|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25101980|PMID:25122203|PMID:25148578|PMID:25151137|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637 11684198 ATM ATM serine/threonine kinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27034805|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27322425|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28087566|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28282032|PMID:28338653|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29101607|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29778231|PMID:29785153|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29954938|PMID:29967250|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30716324|PMID:30723761|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31097817|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31159747|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31360874|PMID:31407689 11684198 ATM ATM serine/threonine kinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31611883|PMID:31617914|PMID:31658756|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32756499|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33050356|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33176972|PMID:33181636|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33747920|PMID:33850299|PMID:33919281|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34399810|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34761457|PMID:34820595|PMID:34994613|PMID:35039564|PMID:35245693|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35666082|PMID:35806449|PMID:35980532|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9150358|PMID:9244351|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333 11684198 ATM ATM serine/threonine kinase gene DOID:9256 colorectal cancer ISO RGD:1606040 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:10330348|PMID:10817650|PMID:10980530|PMID:12646636|PMID:15039971|PMID:16266405|PMID:21665257|PMID:21833744|PMID:25374739|PMID:25614872|PMID:25741868|PMID:26681312|PMID:27433846|PMID:28492532|PMID:29360161|PMID:30067863|PMID:31159747|PMID:32295079|PMID:9443866|PMID:9887333 11684198 ATM ATM serine/threonine kinase gene DOID:9256 colorectal cancer disease_progression ISO RGD:1606040 D RGD:9068941 20210430 RGD PMID:16533773|REF_RGD_ID:126790575 11684198 ATM ATM serine/threonine kinase gene DOID:9256 colorectal cancer disease_progression ISO RGD:1606040 D RGD:9068941 20210903 RGD DNA:mutations PMID:30814645|REF_RGD_ID:150340714 11684198 ATM ATM serine/threonine kinase gene DOID:9261 nasopharynx carcinoma ISO RGD:1606040 D RGD:9068941 20210409 RGD protein:decreased expression:epithelium of nasopharynx (human) PMID:29230817|REF_RGD_ID:126779560 11684198 ATM ATM serine/threonine kinase gene DOID:9261 nasopharynx carcinoma ISO RGD:1606040 D RGD:9068941 20210430 RGD associated with Epstein-Barr Virus Infections;mRNA:decreased expression:nasopharyngeal tissue (human) PMID:19142888|REF_RGD_ID:126790562 11684198 ATM ATM serine/threonine kinase gene DOID:9261 nasopharynx carcinoma treatment ISO RGD:1606040 D RGD:9068941 20210827 RGD PMID:28820634|REF_RGD_ID:150340692 11684198 ATM ATM serine/threonine kinase gene DOID:9460 uterine corpus cancer ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:11805335|PMID:15279808|PMID:16864838|PMID:19535770|PMID:19605768|PMID:21354641|PMID:21778326|PMID:21792198|PMID:21965147|PMID:22146522|PMID:22213089|PMID:25122203|PMID:2557216|PMID:25572163|PMID:25741868|PMID:25957637|PMID:25980754|PMID:26467025|PMID:26681312|PMID:26976419|PMID:28126470|PMID:28492532|PMID:28843361|PMID:29478780|PMID:29909963|PMID:30322717|PMID:30549301|PMID:30579816|PMID:30819809|PMID:31050087|PMID:32854451 11684198 ATM ATM serine/threonine kinase gene DOID:9538 multiple myeloma ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11684198 ATM ATM serine/threonine kinase gene DOID:9655 oral mucosa leukoplakia ISO RGD:1606040 D RGD:9068941 20210903 RGD protein:increased expression:mucosa of oral region (human) PMID:18288488|REF_RGD_ID:150340709 11684198 ATM ATM serine/threonine kinase gene DOID:9655 oral mucosa leukoplakia severity ISO RGD:1606040 D RGD:9068941 20210820 RGD protein:increased expression:mucosa of oral region (human) PMID:29928356|REF_RGD_ID:150340604 11684198 ATM ATM serine/threonine kinase gene DOID:9669 senile cataract susceptibility ISO RGD:1606040 D RGD:9068941 20210430 RGD DNA:SNP:3' UTR: (rs4585) (human) PMID:29156695|REF_RGD_ID:126790564 11684286 MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like gene DOID:0080074 neural tube defect ISO RGD:1550697 D RGD:9068941 20200609 RGD PMID:23267094|REF_RGD_ID:12914149 11684286 MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like gene DOID:0080074 neural tube defect ISO RGD:1550697 D RGD:9068941 20220825 MouseDO OMIM:182940 | OMIM:301410 | OMIM:601634 11684286 MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like gene DOID:0080074 neural tube defect susceptibility ISO RGD:1342984 D RGD:9068941 20200609 RGD DNA:deletion/insertion polymorphism:splice junction:rs3832406(human) PMID:19777576|REF_RGD_ID:12914147 11684286 MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like gene DOID:630 genetic disease ISO RGD:1342984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11684286 MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1550697 D RGD:9068941 20200609 RGD PMID:23267094|REF_RGD_ID:12914149 11684326 HTRA4 HtrA serine peptidase 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1350689 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11684326 HTRA4 HtrA serine peptidase 4 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1350689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 11684326 HTRA4 HtrA serine peptidase 4 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1350689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 11684326 HTRA4 HtrA serine peptidase 4 gene DOID:607 paraplegia ISO RGD:1350689 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11684326 HTRA4 HtrA serine peptidase 4 gene DOID:630 genetic disease ISO RGD:1350689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11684339 SRPX2 sushi repeat containing protein X-linked 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11684339 SRPX2 sushi repeat containing protein X-linked 2 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1350450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:21053371|PMID:23712037|PMID:27179713|PMID:28492532|PMID:29377098 11684339 SRPX2 sushi repeat containing protein X-linked 2 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1350450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 11684339 SRPX2 sushi repeat containing protein X-linked 2 gene DOID:12849 autistic disorder ISO RGD:1350450 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:28492532|PMID:30208311 11684339 SRPX2 sushi repeat containing protein X-linked 2 gene DOID:630 genetic disease ISO RGD:1350450 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11684339 SRPX2 sushi repeat containing protein X-linked 2 gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1350450 D RGD:7240710 20180130 OMIM 11684339 SRPX2 sushi repeat containing protein X-linked 2 gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1350450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:16199547|PMID:16497722|PMID:18718938|PMID:23352160|PMID:23831613|PMID:23871722|PMID:23933820|PMID:24995671|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28492532 11684354 RXFP4 relaxin family peptide/INSL5 receptor 4 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1348831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11684354 RXFP4 relaxin family peptide/INSL5 receptor 4 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1348831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 11684354 RXFP4 relaxin family peptide/INSL5 receptor 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1348831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11684354 RXFP4 relaxin family peptide/INSL5 receptor 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1348831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11684354 RXFP4 relaxin family peptide/INSL5 receptor 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1348831 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11684354 RXFP4 relaxin family peptide/INSL5 receptor 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1348831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11684354 RXFP4 relaxin family peptide/INSL5 receptor 4 gene DOID:5812 MHC class II deficiency ISO RGD:1348831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11684354 RXFP4 relaxin family peptide/INSL5 receptor 4 gene DOID:630 genetic disease ISO RGD:1348831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11684354 RXFP4 relaxin family peptide/INSL5 receptor 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11684359 GCLM glutamate-cysteine ligase modifier subunit gene DOID:10322 berylliosis ISO RGD:731551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16766924 11684359 GCLM glutamate-cysteine ligase modifier subunit gene DOID:5844 myocardial infarction ISO RGD:731551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:12081989|PMID:12975258 11684359 GCLM glutamate-cysteine ligase modifier subunit gene DOID:5844 myocardial infarction susceptibility ISO RGD:731551 D RGD:7240710 20190502 OMIM 11684359 GCLM glutamate-cysteine ligase modifier subunit gene DOID:630 genetic disease ISO RGD:731551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11684359 GCLM glutamate-cysteine ligase modifier subunit gene DOID:8725 vascular dementia susceptibility ISO RGD:731551 D RGD:9068941 20200609 RGD associated with stroke;DNA:polymorphism:promoter:-588C>T(human) PMID:17548779|REF_RGD_ID:10402374 11684359 GCLM glutamate-cysteine ligase modifier subunit gene DOID:9004303 Tubulointerstitial Fibrosis ISO RGD:619871 D RGD:9068941 20200609 RGD PMID:21152904|REF_RGD_ID:5134352 11684359 GCLM glutamate-cysteine ligase modifier subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11684359 GCLM glutamate-cysteine ligase modifier subunit gene DOID:9008691 Liver Injury ISO RGD:619871 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver: PMID:24944771|REF_RGD_ID:10402380 11684359 GCLM glutamate-cysteine ligase modifier subunit gene DOID:9352 type 2 diabetes mellitus ISO RGD:731551 D RGD:9068941 20200910 CTD CTD Direct Evidence: therapeutic PMID:32715377 11684369 NMU neuromedin U gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:68564 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 11684369 NMU neuromedin U gene DOID:630 genetic disease ISO RGD:68564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11684369 NMU neuromedin U gene DOID:9970 obesity ISO RGD:68388 D RGD:9068941 20200609 RGD PMID:17706946|REF_RGD_ID:1642093 11684369 NMU neuromedin U gene DOID:9970 obesity ISO RGD:68565 D RGD:9068941 20200609 RGD PMID:15448684|REF_RGD_ID:1642095 11684369 NMU neuromedin U gene DOID:9970 obesity susceptibility ISO RGD:68564 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.R165W,p.A19E PMID:16984985|REF_RGD_ID:1642094 11684394 UBLCP1 ubiquitin like domain containing CTD phosphatase 1 gene DOID:630 genetic disease ISO RGD:1605293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11684394 UBLCP1 ubiquitin like domain containing CTD phosphatase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1605293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 11684409 MPDZ multiple PDZ domain crumbs cell polarity complex component gene DOID:0050563 nonsyndromic deafness ISO RGD:737285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing impairment PMID:28492532 11684409 MPDZ multiple PDZ domain crumbs cell polarity complex component gene DOID:0060041 autism spectrum disorder ISO RGD:737285 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11684409 MPDZ multiple PDZ domain crumbs cell polarity complex component gene DOID:10908 hydrocephalus ISO RGD:737285 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:23240096|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28556411 11684409 MPDZ multiple PDZ domain crumbs cell polarity complex component gene DOID:630 genetic disease ISO RGD:737285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28135719|PMID:28492532|PMID:29499638|PMID:29924831|PMID:9536098 11684409 MPDZ multiple PDZ domain crumbs cell polarity complex component gene DOID:9006616 Congenital Hydrocephalus 2, with or without Brain or Eye Anomalies ISO RGD:737285 D RGD:7240710 20180130 OMIM 11684409 MPDZ multiple PDZ domain crumbs cell polarity complex component gene DOID:9006616 Congenital Hydrocephalus 2, with or without Brain or Eye Anomalies ISO RGD:737285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 2 PMID:16199547|PMID:17576681|PMID:18414213|PMID:23240096|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28556411|PMID:29499638|PMID:32860008|PMID:9536098 11684470 IL22RA1 interleukin 22 receptor subunit alpha 1 gene DOID:630 genetic disease ISO RGD:1352751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11684470 IL22RA1 interleukin 22 receptor subunit alpha 1 gene DOID:9005941 Rhinosinusitis susceptibility ISO RGD:1352751 D RGD:9068941 20200609 RGD DNA:SNPs:5' utr, intron: (rs4292900, rs16829225, rs4648936) (human) PMID:19393422|REF_RGD_ID:5147411 11684470 IL22RA1 interleukin 22 receptor subunit alpha 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1352751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11684481 UBXN7 UBX domain protein 7 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1607058 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 11684481 UBXN7 UBX domain protein 7 gene DOID:12849 autistic disorder ISO RGD:1607058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11684481 UBXN7 UBX domain protein 7 gene DOID:5419 schizophrenia ISO RGD:1607058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11684481 UBXN7 UBX domain protein 7 gene DOID:630 genetic disease ISO RGD:1607058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11684496 TEX13C TEX13 family member C gene DOID:12849 autistic disorder ISO RGD:10449326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:731380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:17576681|PMID:20362274|PMID:20818383|PMID:22019070|PMID:23217327|PMID:23806086|PMID:24088041|PMID:25583628|PMID:25590979|PMID:25741868|PMID:25934856|PMID:25986071|PMID:26173962|PMID:26257172|PMID:26467025|PMID:27102849|PMID:28492532|PMID:28842795|PMID:28888069|PMID:28967629|PMID:28975462|PMID:29625556|PMID:31523922|PMID:31850270|PMID:32376792|PMID:33146414|PMID:3856385|PMID:9536098 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:731380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:25741868|PMID:25986071|PMID:28492532|PMID:31850270 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:731381 D RGD:9068941 20220825 MouseDO OMIM:252010 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:0060786 hypomyelinating leukodystrophy ISO RGD:731380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy PMID:25741868|PMID:28842795 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:731380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:24357419|PMID:28492532 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:0110212 Charcot-Marie-Tooth disease X-linked recessive 4 ISO RGD:731380 D RGD:7240710 20180130 OMIM 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:0110212 Charcot-Marie-Tooth disease X-linked recessive 4 ISO RGD:731380 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 PMID:20362274|PMID:20818383|PMID:22019070|PMID:23217327|PMID:23806086|PMID:24088041|PMID:25583628|PMID:25590979|PMID:25741868|PMID:25934856|PMID:25986071|PMID:26173962|PMID:26257172|PMID:27102849|PMID:28492532|PMID:28842795|PMID:28967629|PMID:31523922|PMID:32376792|PMID:3856385 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:731380 D RGD:9068941 20200609 RGD mRNA:increased expression:left ventricle: PMID:19332114|REF_RGD_ID:10053590 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:731380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:0111502 combined oxidative phosphorylation deficiency 6 ISO RGD:731380 D RGD:7240710 20180130 OMIM 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:0111502 combined oxidative phosphorylation deficiency 6 ISO RGD:731380 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy PMID:20362274|PMID:22019070|PMID:25583628|PMID:25741868|PMID:26173962|PMID:26467025|PMID:28492532 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:0111741 X-linked deafness 5 ISO RGD:731380 D RGD:7240710 20180130 OMIM 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:0111741 X-linked deafness 5 ISO RGD:731380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5 PMID:16816020|PMID:25741868|PMID:25986071|PMID:28492532|PMID:31850270 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:10003 sensorineural hearing loss ISO RGD:731380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25590979|PMID:25741868|PMID:28492532|PMID:28967629|PMID:31523922 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:10283 prostate cancer ISO RGD:731380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:10579 leukodystrophy ISO RGD:731380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:25741868|PMID:28842795 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:10584 retinitis pigmentosa treatment ISO RGD:620817 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:23951212|REF_RGD_ID:10053563 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:1059 intellectual disability ISO RGD:731380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:731380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:26467025|PMID:28492532 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:10652 Alzheimer's disease ISO RGD:731380 D RGD:9068941 20200609 RGD protein:increased expression:basal forebrain,amygdala: PMID:22536549|REF_RGD_ID:10053593 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:10652 Alzheimer's disease ISO RGD:731381 D RGD:9068941 20200609 RGD protein:increased expression:cortex,nucleus: PMID:24915960|REF_RGD_ID:10053592 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:12849 autistic disorder ISO RGD:731380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:12858 Huntington's disease ISO RGD:731380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12930891 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:224 transient cerebral ischemia ISO RGD:620817 D RGD:9068941 20200609 RGD mRNA:decreased expression, altered localization:CA1 pyramidal layer, nucleus: PMID:14526224|REF_RGD_ID:10047409 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:224 transient cerebral ischemia ISO RGD:731381 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:15087715|REF_RGD_ID:10053562 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:620817 D RGD:9068941 20200609 RGD protein:altered localization: : PMID:15181376|REF_RGD_ID:10047403 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:5327 retinal detachment ISO RGD:620817 D RGD:9068941 20200609 RGD protein:altered localization:photoreceptor,nucleus: PMID:11290545|REF_RGD_ID:10047408 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:5327 retinal detachment ISO RGD:731380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18497877 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:574 peripheral nervous system disease ISO RGD:731380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:630 genetic disease ISO RGD:731380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20362274|PMID:20818383|PMID:22019070|PMID:23217327|PMID:25583628|PMID:25741868|PMID:25934856|PMID:25986071|PMID:26173962|PMID:27102849|PMID:28492532|PMID:28842795|PMID:32376792|PMID:3856385|PMID:9536098 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:870 neuropathy ISO RGD:731380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:9000068 X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy ISO RGD:731380 D RGD:7240710 20191211 OMIM 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:9000068 X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy ISO RGD:731380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SEMD X-linked with mental deterioration | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy PMID:10486082|PMID:16924009|PMID:23239615|PMID:25741868|PMID:27102849|PMID:28492532|PMID:28842795 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:9000998 Brain Injuries ISO RGD:620817 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:12091479|REF_RGD_ID:10053567 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:9002408 Sketetal Dysplasia Coarse Facies Mental Retardation ISO RGD:731380 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia X-linked with mental deterioration PMID:10486082|PMID:16924009|PMID:23239615|PMID:25741868|PMID:27102849|PMID:28492532|PMID:28842795 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620817 D RGD:9068941 20200609 RGD PMID:28108258|REF_RGD_ID:13524865 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620817 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:12871572|REF_RGD_ID:10053564 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:9004953 Diabetic Cystopathy ISO RGD:620817 D RGD:9068941 20200609 RGD protein:increased expression:nuclei: PMID:20879002|REF_RGD_ID:10053565 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23499715 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:9005749 Necrosis ISO RGD:731380 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16532269 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25743375 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620817 D RGD:9068941 20200609 RGD protein:decreased expression:mitochondrion: PMID:23685150|REF_RGD_ID:10053560 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731381 D RGD:9068941 20200609 RGD PMID:23685150|REF_RGD_ID:10053560 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:9008824 Sarcopenia severity ISO RGD:620817 D RGD:9068941 20200609 RGD RNA:increased expression:plantaris muscle: PMID:17029665|REF_RGD_ID:2325745 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:731380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23499715 11684526 SECISBP2L SECIS binding protein 2 like gene DOID:2717 Bloom syndrome ISO RGD:1605418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11684526 SECISBP2L SECIS binding protein 2 like gene DOID:630 genetic disease ISO RGD:1605418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11684526 SECISBP2L SECIS binding protein 2 like gene DOID:9005172 Lung Neoplasms ISO RGD:1605418 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28604730 11684526 SECISBP2L SECIS binding protein 2 like gene DOID:9256 colorectal cancer ISO RGD:1605418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11684551 AMTN amelotin gene DOID:0080243 amelogenesis imperfecta type 3B ISO RGD:1604908 D RGD:7240710 20190315 OMIM 11684551 AMTN amelotin gene DOID:630 genetic disease ISO RGD:1604908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11684551 AMTN amelotin gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1604908 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11684566 HMGN1 high mobility group nucleosome binding domain 1 gene DOID:12849 autistic disorder ISO RGD:1317138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11684566 HMGN1 high mobility group nucleosome binding domain 1 gene DOID:630 genetic disease ISO RGD:1317138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11684566 HMGN1 high mobility group nucleosome binding domain 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1317138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747640 11684599 CEP170 centrosomal protein 170 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1605104 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11684599 CEP170 centrosomal protein 170 gene DOID:1540 parathyroid carcinoma ISO RGD:1605104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11684599 CEP170 centrosomal protein 170 gene DOID:630 genetic disease ISO RGD:1605104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11684599 CEP170 centrosomal protein 170 gene DOID:9002186 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 ISO RGD:1605104 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 PMID:25087610 11684599 CEP170 centrosomal protein 170 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1605104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:20835237|PMID:22190896|PMID:28492532 11684599 CEP170 centrosomal protein 170 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11684599 CEP170 centrosomal protein 170 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11684636 ESRP1 epithelial splicing regulatory protein 1 gene DOID:0111639 autosomal recessive nonsyndromic deafness 109 ISO RGD:1606552 D RGD:7240710 20190315 OMIM 11684636 ESRP1 epithelial splicing regulatory protein 1 gene DOID:0111639 autosomal recessive nonsyndromic deafness 109 ISO RGD:1606552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 109 PMID:25741868|PMID:29107558 11684636 ESRP1 epithelial splicing regulatory protein 1 gene DOID:630 genetic disease ISO RGD:1606552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11684650 SAMD3 sterile alpha motif domain containing 3 gene DOID:630 genetic disease ISO RGD:1322660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11684679 CISH cytokine inducible SH2 containing protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 11684679 CISH cytokine inducible SH2 containing protein gene DOID:0060071 pre-malignant neoplasm ISO RGD:735426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 11684679 CISH cytokine inducible SH2 containing protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 11684679 CISH cytokine inducible SH2 containing protein gene DOID:12365 malaria ISO RGD:735426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malaria, susceptibility to PMID:20484391 11684679 CISH cytokine inducible SH2 containing protein gene DOID:12365 malaria susceptibility ISO RGD:735426 D RGD:7240710 20190502 OMIM 11684679 CISH cytokine inducible SH2 containing protein gene DOID:3042 allergic contact dermatitis ISO RGD:735426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 11684679 CISH cytokine inducible SH2 containing protein gene DOID:399 tuberculosis ISO RGD:735426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberculosis, susceptibility to PMID:20484391 11684679 CISH cytokine inducible SH2 containing protein gene DOID:399 tuberculosis susceptibility ISO RGD:735426 D RGD:7240710 20190502 OMIM 11684679 CISH cytokine inducible SH2 containing protein gene DOID:630 genetic disease ISO RGD:735426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11684679 CISH cytokine inducible SH2 containing protein gene DOID:9005036 Bacteremia ISO RGD:735426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bacteremia, susceptibility to, 2 PMID:20484391 11684679 CISH cytokine inducible SH2 containing protein gene DOID:9005036 Bacteremia susceptibility ISO RGD:735426 D RGD:7240710 20190502 OMIM 11684693 C20H20orf144 chromosome 20 C20orf144 homolog gene DOID:2843 long QT syndrome ISO RGD:1348206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11684693 C20H20orf144 chromosome 20 C20orf144 homolog gene DOID:630 genetic disease ISO RGD:1348206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11684699 ORMDL3 ORMDL sphingolipid biosynthesis regulator 3 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1352369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 11684699 ORMDL3 ORMDL sphingolipid biosynthesis regulator 3 gene DOID:2841 asthma ISO RGD:1352369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21150878|PMID:25256354 11684699 ORMDL3 ORMDL sphingolipid biosynthesis regulator 3 gene DOID:630 genetic disease ISO RGD:1352369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11684699 ORMDL3 ORMDL sphingolipid biosynthesis regulator 3 gene DOID:8577 ulcerative colitis ISO RGD:1352369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 11684717 CWH43 cell wall biogenesis 43 C-terminal homolog gene DOID:1572 normal pressure hydrocephalus ISO RGD:1332079 D RGD:9068941 20230309 MouseDO OMIM:236690 11684717 CWH43 cell wall biogenesis 43 C-terminal homolog gene DOID:630 genetic disease ISO RGD:1602204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11684717 CWH43 cell wall biogenesis 43 C-terminal homolog gene DOID:9005172 Lung Neoplasms ISO RGD:1602204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 11684740 GPC6 glypican 6 gene DOID:0060288 omodysplasia ISO RGD:1352914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Omodysplasia 11684740 GPC6 glypican 6 gene DOID:0080844 omodysplasia 1 ISO RGD:1352914 D RGD:7240710 20180130 OMIM 11684740 GPC6 glypican 6 gene DOID:0080844 omodysplasia 1 ISO RGD:1352914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive omodysplasia PMID:19481194|PMID:25741868|PMID:28492532 11684740 GPC6 glypican 6 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1352914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 11684740 GPC6 glypican 6 gene DOID:11476 osteoporosis ISO RGD:1352914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869591 11684740 GPC6 glypican 6 gene DOID:630 genetic disease ISO RGD:1352914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11684740 GPC6 glypican 6 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1352914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11684740 GPC6 glypican 6 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1352914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19481194 11684740 GPC6 glypican 6 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1352914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19481194 11684756 RNF41 ring finger protein 41 gene DOID:630 genetic disease ISO RGD:1319962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11684773 LNPEP leucyl and cystinyl aminopeptidase gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732137 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11684773 LNPEP leucyl and cystinyl aminopeptidase gene DOID:127 leiomyoma disease_progression ISO RGD:732137 D RGD:9068941 20200609 RGD associated with Uterine Neoplasms;protein:increased expression:serum PMID:7446622|REF_RGD_ID:2314924 11684773 LNPEP leucyl and cystinyl aminopeptidase gene DOID:1612 breast cancer ISO RGD:732137 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:10508127|REF_RGD_ID:2314923 11684773 LNPEP leucyl and cystinyl aminopeptidase gene DOID:4450 renal cell carcinoma ISO RGD:732137 D RGD:9068941 20200609 RGD PMID:17692401|REF_RGD_ID:2314919 11684773 LNPEP leucyl and cystinyl aminopeptidase gene DOID:630 genetic disease ISO RGD:732137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11684773 LNPEP leucyl and cystinyl aminopeptidase gene DOID:8488 polyhydramnios ISO RGD:732137 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:1789335|REF_RGD_ID:2311543 11684773 LNPEP leucyl and cystinyl aminopeptidase gene DOID:9002165 Diabetic Nephropathies ISO RGD:732137 D RGD:9068941 20200609 RGD PMID:1789335|REF_RGD_ID:2311543 11684773 LNPEP leucyl and cystinyl aminopeptidase gene DOID:9002762 Ovarian Neoplasms ISO RGD:732137 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:15907336|REF_RGD_ID:2314920 11684773 LNPEP leucyl and cystinyl aminopeptidase gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:732137 D RGD:9068941 20200609 RGD PMID:7446622|REF_RGD_ID:2314924 11684773 LNPEP leucyl and cystinyl aminopeptidase gene DOID:9004265 Endometrioid Carcinomas ISO RGD:732137 D RGD:9068941 20200609 RGD associated with Endometrial Neoplasms PMID:15218296|REF_RGD_ID:2314922 11684773 LNPEP leucyl and cystinyl aminopeptidase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11684773 LNPEP leucyl and cystinyl aminopeptidase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:621752 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16619500|REF_RGD_ID:1582109 11684773 LNPEP leucyl and cystinyl aminopeptidase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732137 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16619500 11684773 LNPEP leucyl and cystinyl aminopeptidase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732137 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11684773 LNPEP leucyl and cystinyl aminopeptidase gene DOID:9007715 Endometrial Neoplasms ISO RGD:732137 D RGD:9068941 20200609 RGD PMID:15491750|REF_RGD_ID:2314921 11684773 LNPEP leucyl and cystinyl aminopeptidase gene DOID:9008023 Memory Disorders ISO RGD:732137 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11730987 11684773 LNPEP leucyl and cystinyl aminopeptidase gene DOID:9352 type 2 diabetes mellitus ISO RGD:621752 D RGD:9068941 20200609 RGD PMID:16967782|REF_RGD_ID:2306436 11684773 LNPEP leucyl and cystinyl aminopeptidase gene DOID:9352 type 2 diabetes mellitus ISO RGD:732137 D RGD:9068941 20200609 RGD PMID:11701721|REF_RGD_ID:2311542 11684798 BTRC beta-transducin repeat containing E3 ubiquitin protein ligase gene DOID:0090020 split hand-foot malformation ISO RGD:1347748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation PMID:21681106 11684798 BTRC beta-transducin repeat containing E3 ubiquitin protein ligase gene DOID:630 genetic disease ISO RGD:1347748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11684825 ARHGEF25 Rho guanine nucleotide exchange factor 25 gene DOID:10283 prostate cancer ISO RGD:1601833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11684825 ARHGEF25 Rho guanine nucleotide exchange factor 25 gene DOID:607 paraplegia ISO RGD:1601833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11684825 ARHGEF25 Rho guanine nucleotide exchange factor 25 gene DOID:630 genetic disease ISO RGD:1601833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11684825 ARHGEF25 Rho guanine nucleotide exchange factor 25 gene DOID:6846 familial melanoma ISO RGD:1601833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 11684861 TP53RK TP53 regulating kinase gene DOID:0080246 Galloway-Mowat syndrome 4 ISO RGD:1317644 D RGD:7240710 20190315 OMIM 11684861 TP53RK TP53 regulating kinase gene DOID:0080246 Galloway-Mowat syndrome 4 ISO RGD:1317644 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 PMID:25741868|PMID:28492532|PMID:28805828|PMID:32581362 11684861 TP53RK TP53 regulating kinase gene DOID:0080694 Galloway-Mowat syndrome ISO RGD:1317644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28805828 11684861 TP53RK TP53 regulating kinase gene DOID:2234 focal epilepsy ISO RGD:1317644 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11684861 TP53RK TP53 regulating kinase gene DOID:630 genetic disease ISO RGD:1317644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11684861 TP53RK TP53 regulating kinase gene DOID:9008086 Developmental Disabilities ISO RGD:1317644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:32581362 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:70498 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:liver (rat) treatment with INT-767 PMID:30038487|REF_RGD_ID:15092090 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:0081154 common variable immunodeficiency 12 ISO RGD:730892 D RGD:7240710 20180130 OMIM 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:0081154 common variable immunodeficiency 12 ISO RGD:730892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 PMID:11583829|PMID:16199547|PMID:16639407|PMID:25741868|PMID:26279205|PMID:27365489|PMID:28492532|PMID:29077208|PMID:29477724|PMID:31803180|PMID:32278790|PMID:32499645|PMID:32581362|PMID:32918165|PMID:34447408|PMID:9383370 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:730892 D RGD:9068941 20200609 RGD PMID:26068031|REF_RGD_ID:11054182 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:730892 D RGD:9068941 20200609 RGD DNA:indel:promoter PMID:26788504|REF_RGD_ID:11554936 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:10283 prostate cancer treatment ISO RGD:730892 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :multiple PMID:28797847|REF_RGD_ID:13506729 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:10534 stomach cancer ISO RGD:730892 D RGD:9068941 20210528 RGD human cells in mouse model; associated with mental depression; protein:increased phosphorylation:stomach (human) PMID:31396300|REF_RGD_ID:126908003 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:12155 lymphocytic choriomeningitis severity ISO RGD:730893 D RGD:9068941 20201218 RGD PMID:20565293|REF_RGD_ID:40902858 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:12177 common variable immunodeficiency ISO RGD:730892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:25741868|PMID:26279205|PMID:28492532|PMID:29477724|PMID:32278790|PMID:32499645|PMID:32581362|PMID:32918165 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:12236 primary biliary cholangitis ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21399635 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:12351 alcoholic hepatitis treatment ISO RGD:70498 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:12858 Huntington's disease severity ISO RGD:730893 D RGD:9068941 20200609 RGD PMID:11211235|REF_RGD_ID:10045663 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:1324 lung cancer disease_progression ISO RGD:730892 D RGD:9068941 20220224 RGD PMID:26300007|REF_RGD_ID:11535492 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:1324 lung cancer exacerbates ISO RGD:730893 D RGD:9068941 20220224 RGD PMID:26300007|REF_RGD_ID:11535492 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:1596 depressive disorder ISO RGD:730893 D RGD:9068941 20210528 RGD protein:increased phosphorylation:hippocampus (mouse) PMID:31396300|REF_RGD_ID:126908003 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:1612 breast cancer treatment ISO RGD:730892 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :multiple PMID:28797847|REF_RGD_ID:13506729 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:1909 melanoma ISO RGD:730892 D RGD:9068941 20200609 RGD DNA:insertion(s) PMID:17492467|REF_RGD_ID:2298900 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:224 transient cerebral ischemia ISO RGD:70498 D RGD:9068941 20200609 RGD protein:increased expression:hippocampal pyramidal neuron, nucleus (rat) PMID:9158652|REF_RGD_ID:10045943 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:2316 brain ischemia ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18628779 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:299 adenocarcinoma ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19028472 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:3021 acute kidney failure ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29286200 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:321 tropical spastic paraparesis susceptibility ISO RGD:730892 D RGD:9068941 20201218 RGD DNA:SNP:5'utr: (rs3138045) (human) PMID:22170554|REF_RGD_ID:39018559 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:3633 beta-mannosidosis ISO RGD:730892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730892 D RGD:9068941 20200609 RGD protein:increased expression:nucleus PMID:17899287|REF_RGD_ID:13793391 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:730892 D RGD:9068941 20200609 RGD DNA:polymorphism:rs28362491(human) PMID:26221384|REF_RGD_ID:13793390 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:4074 pancreatic adenocarcinoma severity ISO RGD:730892 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (human) PMID:27919956|REF_RGD_ID:13451128 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:409 liver disease ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15743782 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:5119 ovarian cyst ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:612 primary immunodeficiency disease ISO RGD:730892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868|PMID:26279205|PMID:28492532|PMID:29077208|PMID:29403474|PMID:29477724|PMID:31803180|PMID:32499645|PMID:32581362|PMID:32918165 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:630 genetic disease ISO RGD:730892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:649 prion disease severity ISO RGD:730893 D RGD:9068941 20201218 RGD PMID:17573907|REF_RGD_ID:40902830 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:730892 D RGD:9068941 20201211 RGD associated with Chronic Hepatitis B;DNA:insertion/deletion:3'utr: -94ins/delATTG (rs28720239) (human) PMID:19797428|REF_RGD_ID:40400751 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:70498 D RGD:9068941 20220520 RGD PMID:25999787|REF_RGD_ID:152177911 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:783 end stage renal disease ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:8929 atrophic gastritis severity ISO RGD:730893 D RGD:9068941 20201218 RGD associated with Helicobacter Infections PMID:23975431|REF_RGD_ID:40902973 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730892 D RGD:9068941 20200609 RGD associated with prostate cancer PMID:17974971|REF_RGD_ID:13506764 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9001455 Intestinal Helminthiasis disease_progression ISO RGD:730893 D RGD:9068941 20201225 RGD PMID:12370384|REF_RGD_ID:40902988 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9001479 Cerebral Toxoplasmosis severity ISO RGD:730893 D RGD:9068941 20201218 RGD PMID:20156658|REF_RGD_ID:40902838 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9002189 High Myopia ISO RGD:730892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: High myopia PMID:28492532 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:70498 D RGD:9068941 20200609 RGD protein:increased activity:striatum PMID:17250675|REF_RGD_ID:2302394 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19028472|PMID:20715105 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:730892 D RGD:9068941 20201225 RGD DNA:insertion:promoter: -94insATTG (rs28362491) (human) PMID:26827631|REF_RGD_ID:11572306 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9004649 Heat Stroke ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9004912 Hyperoxaluria ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16284884 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:730892 D RGD:9068941 20201218 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:26541527|REF_RGD_ID:40902860 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:730892 D RGD:9068941 20201225 RGD associated with tuberculosis ;DNA:SNPs,haplotypes: 3'utr,5'utr: (rs78872571,rs4647992) (human) PMID:31490979|REF_RGD_ID:40902984 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:70498 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:730893 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20516118|PMID:28823542 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9008865 Entamoebiasis severity ISO RGD:730893 D RGD:9068941 20201218 RGD PMID:20086086|REF_RGD_ID:40902842 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9256 colorectal cancer ISO RGD:730893 D RGD:9068941 20201218 RGD associated with Experimental Colitis PMID:25727407|REF_RGD_ID:40902978 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17107852 11684867 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9452 fatty liver disease ISO RGD:70498 D RGD:9068941 20200609 RGD PMID:21643627|REF_RGD_ID:5135028 11684900 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:0050214 Lambert-Eaton myasthenic syndrome ISO RGD:1347795 D RGD:9068941 20200609 RGD PMID:16289869|REF_RGD_ID:1626312 11684900 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:0050777 Joubert syndrome ISO RGD:1347795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11684900 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1347795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:28492532|PMID:30982612|PMID:31209758 11684900 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1347795 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 11684900 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1347795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11684900 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1347795 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11684900 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:0081097 Rafiq syndrome ISO RGD:1347795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11684900 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:0090051 dystonia 23 ISO RGD:1347795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia 23 PMID:21370267|PMID:25296916|PMID:25741868|PMID:26157024|PMID:28492532 11684900 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:1826 epilepsy ISO RGD:1347795 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:28492532 11684900 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:2377 multiple sclerosis ISO RGD:1347795 D RGD:9068941 20200609 RGD PMID:11353727|REF_RGD_ID:1580151 11684900 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:574 peripheral nervous system disease ISO RGD:1347795 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22891239 11684900 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:630 genetic disease ISO RGD:1347795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11684900 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:9001474 Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements ISO RGD:1347795 D RGD:7240710 20190918 OMIM 11684900 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:9001474 Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements ISO RGD:1347795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements PMID:17576681|PMID:25741868|PMID:28492532|PMID:30982612|PMID:9536098 11684900 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:735793 D RGD:9068941 20200609 RGD PMID:27273361|REF_RGD_ID:13506726 11684900 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:9002211 Hyperalgesia ISO RGD:628852 D RGD:9068941 20200609 RGD PMID:17567797|REF_RGD_ID:1626313 11684900 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:628852 D RGD:9068941 20200609 RGD PMID:11353727|REF_RGD_ID:1580151 11684900 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1347795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11684963 UMODL1 uromodulin like 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1351162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11684963 UMODL1 uromodulin like 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:1351162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11684963 UMODL1 uromodulin like 1 gene DOID:10283 prostate cancer ISO RGD:1351162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11684963 UMODL1 uromodulin like 1 gene DOID:630 genetic disease ISO RGD:1351162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11684963 UMODL1 uromodulin like 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1351162 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11684963 UMODL1 uromodulin like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11684963 UMODL1 uromodulin like 1 gene DOID:9263 homocystinuria ISO RGD:1351162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11684963 UMODL1 uromodulin like 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11684988 SIDT2 SID1 transmembrane family member 2 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1351240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 11684988 SIDT2 SID1 transmembrane family member 2 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1351240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11684988 SIDT2 SID1 transmembrane family member 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1623819 D RGD:9068941 20220825 MouseDO OMIM:613282 | OMIM:613387 11684988 SIDT2 SID1 transmembrane family member 2 gene DOID:0080690 RASopathy ISO RGD:1351240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11684988 SIDT2 SID1 transmembrane family member 2 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1351240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 11684988 SIDT2 SID1 transmembrane family member 2 gene DOID:0111123 nephronophthisis 15 ISO RGD:1351240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 11684988 SIDT2 SID1 transmembrane family member 2 gene DOID:0111971 immunodeficiency 18 ISO RGD:1351240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 11684988 SIDT2 SID1 transmembrane family member 2 gene DOID:0111972 immunodeficiency 19 ISO RGD:1351240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 11684988 SIDT2 SID1 transmembrane family member 2 gene DOID:0111973 immunodeficiency 17 ISO RGD:1351240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 11684988 SIDT2 SID1 transmembrane family member 2 gene DOID:1059 intellectual disability ISO RGD:1351240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11684988 SIDT2 SID1 transmembrane family member 2 gene DOID:630 genetic disease ISO RGD:1351240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11684988 SIDT2 SID1 transmembrane family member 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1351240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11684988 SIDT2 SID1 transmembrane family member 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1351240 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 11684988 SIDT2 SID1 transmembrane family member 2 gene DOID:9007661 Dwarfism ISO RGD:1351240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11685019 NCLN nicalin gene DOID:10487 Hirschsprung's disease ISO RGD:1343218 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 11685019 NCLN nicalin gene DOID:630 genetic disease ISO RGD:1343218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11685019 NCLN nicalin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11685043 ULBP2 UL16 binding protein 2 gene DOID:630 genetic disease ISO RGD:1346628 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11685043 ULBP2 UL16 binding protein 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1346628 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11685052 ZNF207 zinc finger protein 207 gene DOID:630 genetic disease ISO RGD:1317710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11685079 LOC100985838 uncharacterized LOC100985838 gene DOID:2717 Bloom syndrome ISO RGD:3398935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11685079 LOC100985838 uncharacterized LOC100985838 gene DOID:630 genetic disease ISO RGD:3398935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11685079 LOC100985838 uncharacterized LOC100985838 gene DOID:9256 colorectal cancer ISO RGD:3398935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 11685087 CCNY cyclin Y gene DOID:630 genetic disease ISO RGD:1347341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11685087 CCNY cyclin Y gene DOID:8577 ulcerative colitis ISO RGD:1347341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438405 11685087 CCNY cyclin Y gene DOID:8778 Crohn's disease ISO RGD:1347341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438405 11685119 TIE1 tyrosine kinase with immunoglobulin like and EGF like domains 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1346429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11685119 TIE1 tyrosine kinase with immunoglobulin like and EGF like domains 1 gene DOID:630 genetic disease ISO RGD:1346429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11685119 TIE1 tyrosine kinase with immunoglobulin like and EGF like domains 1 gene DOID:9004103 Lymphatic Malformation 11 ISO RGD:1346429 D RGD:7240710 20210707 OMIM 11685119 TIE1 tyrosine kinase with immunoglobulin like and EGF like domains 1 gene DOID:9004103 Lymphatic Malformation 11 ISO RGD:1346429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 11 PMID:32947856 11685150 ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1348132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11685150 ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11685150 ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:1348132 D RGD:7240710 20180130 OMIM 11685150 ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:1348132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:17576681|PMID:19377476|PMID:22796527|PMID:24357419|PMID:24811172|PMID:25649377|PMID:25741868|PMID:28492532|PMID:28687527|PMID:29681091|PMID:9536098 11685150 ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:1056 oculocerebrorenal syndrome ISO RGD:1348132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lowe syndrome PMID:22965764|PMID:28492532 11685150 ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:1059 intellectual disability ISO RGD:1348132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17436253|PMID:24811172|PMID:25741868|PMID:28492532|PMID:29681091 11685150 ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:1059 intellectual disability ISO RGD:1348132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17436253|PMID:25741868|PMID:28492532|PMID:29681091 11685150 ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:12849 autistic disorder ISO RGD:1348132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11685150 ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:630 genetic disease ISO RGD:1348132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24357419|PMID:28492532 11685150 ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 11685174 ESPN espin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:731924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587 11685174 ESPN espin gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:731924 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11685174 ESPN espin gene DOID:0110494 autosomal recessive nonsyndromic deafness 36 ISO RGD:731924 D RGD:7240710 20180130 OMIM 11685174 ESPN espin gene DOID:0110494 autosomal recessive nonsyndromic deafness 36 ISO RGD:731924 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 36 | ClinVar Annotator: match by term: Deafness, autosomal recessive 36, with or without vestibular involvement | ClinVar Annotator: match by term: Deafness, autosomal recessive 36, without vestibular involvement | ClinVar Annotator: match by term: Deafness, without vestibular involvement, autosomal dominant PMID:15286153|PMID:15930085|PMID:18973245|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29572253|PMID:30303587|PMID:32747562|PMID:33297549|PMID:35802133|PMID:36633841|PMID:9763424 11685174 ESPN espin gene DOID:0110826 Usher syndrome type 1 ISO RGD:731924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:29572253 11685174 ESPN espin gene DOID:10003 sensorineural hearing loss ISO RGD:731924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 11685174 ESPN espin gene DOID:3426 vestibular disease ISO RGD:10825 D RGD:9068941 20200609 RGD PMID:10975527|REF_RGD_ID:734943 11685174 ESPN espin gene DOID:3426 vestibular disease ISO RGD:731924 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15286153 11685174 ESPN espin gene DOID:630 genetic disease ISO RGD:731924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25356970|PMID:28492532 11685174 ESPN espin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11685174 ESPN espin gene DOID:9008222 Usher Syndrome Type 1M ISO RGD:731924 D RGD:7240710 20191030 OMIM 11685174 ESPN espin gene DOID:9008222 Usher Syndrome Type 1M ISO RGD:731924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 1M PMID:15930085|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29572253|PMID:33297549 11685174 ESPN espin gene DOID:9008681 Deafness ISO RGD:10825 D RGD:9068941 20200609 RGD PMID:10975527|REF_RGD_ID:734943 11685174 ESPN espin gene DOID:9008681 Deafness ISO RGD:731924 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15286153|PMID:15930085 11685189 NOL3 nucleolar protein 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1352407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11685189 NOL3 nucleolar protein 3 gene DOID:0080600 COVID-19 ISO RGD:1352407 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11685189 NOL3 nucleolar protein 3 gene DOID:0110255 cataract 5 multiple types ISO RGD:1352407 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 11685189 NOL3 nucleolar protein 3 gene DOID:630 genetic disease ISO RGD:1352407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11685189 NOL3 nucleolar protein 3 gene DOID:700 mitochondrial metabolism disease ISO RGD:1352407 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19139834 11685189 NOL3 nucleolar protein 3 gene DOID:9009015 Familial Myoclonus 1 ISO RGD:1352407 D RGD:7240710 20180130 OMIM 11685189 NOL3 nucleolar protein 3 gene DOID:9009015 Familial Myoclonus 1 ISO RGD:1352407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myoclonus, familial, 1 PMID:22926851|PMID:25741868 11685210 SERTAD1 SERTA domain containing 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1353244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11685210 SERTAD1 SERTA domain containing 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1353244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11685210 SERTAD1 SERTA domain containing 1 gene DOID:2340 craniosynostosis ISO RGD:1353244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11685210 SERTAD1 SERTA domain containing 1 gene DOID:630 genetic disease ISO RGD:1353244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11685210 SERTAD1 SERTA domain containing 1 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1353244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11685210 SERTAD1 SERTA domain containing 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1353244 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18097604 11685210 SERTAD1 SERTA domain containing 1 gene DOID:9269 maple syrup urine disease ISO RGD:1353244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11685216 RHBDL2 rhomboid like 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1317987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11685216 RHBDL2 rhomboid like 2 gene DOID:630 genetic disease ISO RGD:1317987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11685237 EFCAB11 EF-hand calcium binding domain 11 gene DOID:630 genetic disease ISO RGD:1343471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11685267 PLEKHH2 pleckstrin homology, MyTH4 and FERM domain containing H2 gene DOID:3883 Lynch syndrome ISO RGD:1351016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11685267 PLEKHH2 pleckstrin homology, MyTH4 and FERM domain containing H2 gene DOID:630 genetic disease ISO RGD:1351016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11685322 NLRP7 NLR family pyrin domain containing 7 gene DOID:10283 prostate cancer ISO RGD:1604725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:19066229|PMID:21507883|PMID:24105752 11685322 NLRP7 NLR family pyrin domain containing 7 gene DOID:630 genetic disease ISO RGD:1604725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11685322 NLRP7 NLR family pyrin domain containing 7 gene DOID:9003652 Hydatidiform Mole, Recurrent, 1 ISO RGD:1604725 D RGD:7240710 20190315 OMIM 11685322 NLRP7 NLR family pyrin domain containing 7 gene DOID:9003652 Hydatidiform Mole, Recurrent, 1 ISO RGD:1604725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 PMID:10072436|PMID:10951527|PMID:11598368|PMID:12471053|PMID:14756744|PMID:16199547|PMID:16239310|PMID:16462743|PMID:18039680|PMID:19054016|PMID:19066229|PMID:19246479|PMID:19309689|PMID:19650864|PMID:2030859|PMID:21507883|PMID:21659348|PMID:21948117|PMID:22025618|PMID:22315435|PMID:22361007|PMID:22646272|PMID:22909446|PMID:23065465|PMID:23125094|PMID:23201303|PMID:23354651|PMID:23515668|PMID:23963444|PMID:24033266|PMID:24105752|PMID:24137163|PMID:24533231|PMID:25082979|PMID:25097207|PMID:25376457|PMID:25741868|PMID:26121690|PMID:26323243|PMID:26956250|PMID:28492532 11685322 NLRP7 NLR family pyrin domain containing 7 gene DOID:9005147 Hydatidiform Mole ISO RGD:1604725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydatidiform mole PMID:24033266|PMID:25741868 11685336 NFU1 NFU1 iron-sulfur cluster scaffold gene DOID:0070330 multiple mitochondrial dysfunctions syndrome ISO RGD:1317241 D RGD:8554872 20220621 ClinVar ClinVar Annotator: match by term: Fatal multiple mitochondrial dysfunctions syndrome 11685336 NFU1 NFU1 iron-sulfur cluster scaffold gene DOID:0080133 multiple mitochondrial dysfunctions syndrome 1 ISO RGD:1317241 D RGD:7240710 20180130 OMIM 11685336 NFU1 NFU1 iron-sulfur cluster scaffold gene DOID:0080133 multiple mitochondrial dysfunctions syndrome 1 ISO RGD:1317241 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 1 PMID:11156534|PMID:16199547|PMID:17576681|PMID:21944046|PMID:22077971|PMID:24033266|PMID:25477904|PMID:25640679|PMID:25741868|PMID:25758857|PMID:25918518|PMID:28161430|PMID:28470589|PMID:28492532|PMID:28803783|PMID:29441221|PMID:31461310|PMID:31970900|PMID:9536098 11685336 NFU1 NFU1 iron-sulfur cluster scaffold gene DOID:630 genetic disease ISO RGD:1317241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:0050770 polycystic liver disease ISO RGD:731858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:0111252 neurofibromatosis 2 ISO RGD:731858 D RGD:7240710 20180130 OMIM 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:0111252 neurofibromatosis 2 ISO RGD:731858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:10691417|PMID:10712203|PMID:10777666|PMID:10970839|PMID:11085592|PMID:11448944|PMID:11535133|PMID:11668501|PMID:11756419|PMID:11779178|PMID:11809806|PMID:12118253|PMID:12217955|PMID:12566519|PMID:12695331|PMID:12807969|PMID:1479598|PMID:15598747|PMID:15635074|PMID:15645494|PMID:15684865|PMID:15692946|PMID:16199547|PMID:16509493|PMID:16532029|PMID:16983642|PMID:17222329|PMID:17576681|PMID:17607601|PMID:18033041|PMID:18173316|PMID:18554169|PMID:18670066|PMID:18766994|PMID:19234911|PMID:19451225|PMID:19924781|PMID:19968670|PMID:20553997|PMID:20831745|PMID:21294614|PMID:21563229|PMID:21671232|PMID:21906157|PMID:22012890|PMID:22081132|PMID:22295085|PMID:22325036|PMID:22703879|PMID:22711605|PMID:23196945|PMID:23348505|PMID:24030433|PMID:24033266|PMID:24309211|PMID:24595234|PMID:24728327|PMID:24815379|PMID:25326635|PMID:2543905|PMID:25525159|PMID:25567352|PMID:25640679|PMID:25741868|PMID:25798586|PMID:25931164|PMID:26031996|PMID:26045165|PMID:26066488|PMID:26073919|PMID:26332594|PMID:26343386|PMID:26407091|PMID:26467025|PMID:27128293|PMID:27600092|PMID:27704245|PMID:27930734|PMID:28365909|PMID:28492532|PMID:28526081|PMID:28737257|PMID:28873162|PMID:29316957|PMID:29409008|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29761250|PMID:29781505|PMID:30306255|PMID:30594554|PMID:30833958|PMID:31089872|PMID:31273341|PMID:31370276|PMID:33067351|PMID:4000972|PMID:7535084|PMID:7666400|PMID:7711726|PMID:7759081|PMID:7868131|PMID:7913580|PMID:7951231|PMID:8012353|PMID:8081368|PMID:8230593|PMID:8379998|PMID:8566958|PMID:8698340|PMID:8751853|PMID:8755919|PMID:8757035|PMID:8797533|PMID:8882871|PMID:8889506|PMID:9391890|PMID:9466988|PMID:9536098|PMID:9605590|PMID:9643284|PMID:9718334|PMID:9817921|PMID:9817927|PMID:9884492|PMID:9931334 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:0111253 neurofibromatosis 1 ISO RGD:731858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:10754 otitis media ISO RGD:731859 D RGD:9068941 20220825 MouseDO OMIM:166760 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:12270 coloboma ISO RGD:731859 D RGD:9068941 20220825 MouseDO OMIM:120200 | OMIM:120300 | OMIM:216820 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:12689 acoustic neuroma ISO RGD:731858 D RGD:9068941 20200609 RGD protein:decreased expression:myelinated nerve: PMID:20600642|REF_RGD_ID:8661792 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:1612 breast cancer ISO RGD:731858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:1790 malignant mesothelioma ISO RGD:10322,RGD:731792 D RGD:9068941 20211224 RGD PMID:32271879|REF_RGD_ID:150530636 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:1790 malignant mesothelioma ISO RGD:731858 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23435014|PMID:26463840|PMID:26678224|PMID:26928227|PMID:29112861 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:1790 malignant mesothelioma disease_progression ISO RGD:731859 D RGD:9068941 20211224 RGD PMID:16166281|REF_RGD_ID:150530640 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:1826 epilepsy ISO RGD:3169 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, hippocampus PMID:16468657|REF_RGD_ID:2315002 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:3070 high grade glioma ISO RGD:731858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:3192 neurilemmoma ISO RGD:731858 D RGD:9068941 20211217 RGD DNA:loss of heterozygosity PMID:7669741|REF_RGD_ID:150530508 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:3204 neurilemmomatosis ISO RGD:731858 D RGD:7240710 20180130 OMIM 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:3204 neurilemmomatosis ISO RGD:731858 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schwannomatosis 1 PMID:25741868|PMID:7798645|PMID:9399891 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:3565 meningioma ISO RGD:731858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meningioma PMID:16983642|PMID:18033041|PMID:21294614|PMID:22711605|PMID:23196945|PMID:25741868|PMID:26073919|PMID:28492532|PMID:29781505|PMID:31273341|PMID:33067351|PMID:7868131|PMID:8162072|PMID:8379998|PMID:8882871|PMID:9643284|PMID:9718334|PMID:9884492 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:3908 lung non-small cell carcinoma ISO RGD:731858 D RGD:9068941 20211224 RGD PMID:21743150|REF_RGD_ID:150530639 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:4235 spindle cell sarcoma ISO RGD:731858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spindle cell sarcoma PMID:28890946 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:4450 renal cell carcinoma ISO RGD:731858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:4450 renal cell carcinoma ISO RGD:731859 D RGD:9068941 20200609 RGD PMID:19487675|REF_RGD_ID:2315000 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:4450 renal cell carcinoma ISO RGD:731859 D RGD:9068941 20220825 MouseDO OMIM:300854 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:4586 familial meningioma ISO RGD:731858 D RGD:7240710 20230505 OMIM 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:4586 familial meningioma ISO RGD:731858 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial meningioma PMID:16983642|PMID:20553997|PMID:25741868|PMID:27930734|PMID:28492532|PMID:29641532 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:5648 choroid plexus carcinoma ISO RGD:731858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Choroid plexus carcinoma PMID:26822237 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:630 genetic disease ISO RGD:731858 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1484939|PMID:15684865|PMID:28492532|PMID:7535084 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:684 hepatocellular carcinoma ISO RGD:731858 D RGD:9068941 20211217 RGD PMID:27289045|REF_RGD_ID:150530504 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:684 hepatocellular carcinoma ISO RGD:731858 D RGD:9068941 20211217 RGD DNA, protein:SNP, increased expression:intron, liver PMID:29130106|REF_RGD_ID:150530489 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:731858 D RGD:9068941 20211217 RGD protein:decreased expression:liver PMID:26443326|REF_RGD_ID:11076529 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:7474 malignant pleural mesothelioma ISO RGD:731858 D RGD:9068941 20211224 RGD PMID:26928227|REF_RGD_ID:150429647 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:731858 D RGD:9068941 20211224 RGD PMID:27378628|REF_RGD_ID:150530638 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:731858 D RGD:9068941 20211224 RGD DNA:loss of heterozygosity PMID:26493618|REF_RGD_ID:11553131 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:8712 neurofibromatosis ISO RGD:731859 D RGD:9068941 20220825 MouseDO OMIM:101000 | OMIM:162200 | OMIM:162210 | OMIM:162260 | OMIM:162270 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9000315 Pleural Neoplasms ISO RGD:731858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23435014 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:731858 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9003566 Mesothelioma ISO RGD:731858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12136076|PMID:12168054|PMID:12802287|PMID:16166281|PMID:16319530|PMID:18835652 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:731858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731858 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10712203|PMID:10970839|PMID:11085592|PMID:11448944|PMID:11668501|PMID:11756419|PMID:11779178|PMID:11838794|PMID:11856822|PMID:12566519|PMID:12807969|PMID:1479598|PMID:15635074|PMID:15684865|PMID:15692946|PMID:16199547|PMID:16532029|PMID:16983642|PMID:17222329|PMID:17576681|PMID:18033041|PMID:18173316|PMID:18766994|PMID:19234911|PMID:20553997|PMID:20831745|PMID:21294614|PMID:22012890|PMID:22081132|PMID:22325036|PMID:22703879|PMID:22711605|PMID:23196945|PMID:24033266|PMID:24595234|PMID:24728327|PMID:24815379|PMID:25525159|PMID:25567352|PMID:25741868|PMID:25798586|PMID:25801821|PMID:25931164|PMID:26031996|PMID:26045165|PMID:26066488|PMID:26073919|PMID:26332594|PMID:26343386|PMID:26467025|PMID:27128293|PMID:27600092|PMID:27704245|PMID:27930734|PMID:28365909|PMID:28492532|PMID:28526081|PMID:29316957|PMID:29409008|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29781505|PMID:30122282|PMID:30306255|PMID:30553997|PMID:30833958|PMID:31089872|PMID:31273341|PMID:31296571|PMID:31370276|PMID:32716568|PMID:33067351|PMID:7759081|PMID:7868131|PMID:7913580|PMID:7951231|PMID:8012353|PMID:8081368|PMID:8379998|PMID:8698340|PMID:8755919|PMID:8797533|PMID:8882871|PMID:8889506|PMID:9466988|PMID:9536098|PMID:9605590|PMID:9643284|PMID:9718334 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10712203|PMID:10970839|PMID:11085592|PMID:11448944|PMID:11668501|PMID:11756419|PMID:11779178|PMID:11838794|PMID:11856822|PMID:12566519|PMID:12807969|PMID:1479598|PMID:15635074|PMID:15684865|PMID:15692946|PMID:16199547|PMID:16532029|PMID:16983642|PMID:17222329|PMID:17576681|PMID:18033041|PMID:18173316|PMID:18766994|PMID:19234911|PMID:20553997|PMID:20831745|PMID:21294614|PMID:22012890|PMID:22081132|PMID:22325036|PMID:22703879|PMID:22711605|PMID:23196945|PMID:24033266|PMID:24595234|PMID:24728327|PMID:24815379|PMID:25525159|PMID:25567352|PMID:25741868|PMID:25798586|PMID:25801821|PMID:25931164|PMID:26031996|PMID:26045165|PMID:26066488|PMID:26073919|PMID:26332594|PMID:26343386|PMID:26467025|PMID:27128293|PMID:27600092|PMID:27704245|PMID:27930734|PMID:28365909|PMID:28492532|PMID:28526081|PMID:29316957|PMID:29409008|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29761250|PMID:29781505|PMID:30122282|PMID:30306255|PMID:30553997|PMID:30833958|PMID:31089872|PMID:31273341|PMID:31296571|PMID:31370276|PMID:32716568|PMID:33067351|PMID:7759081|PMID:7868131|PMID:7913580|PMID:7951231|PMID:8012353|PMID:8081368|PMID:8379998|PMID:8698340|PMID:8755919|PMID:8797533|PMID:8882871|PMID:8889506|PMID:9466988|PMID:9536098|PMID:9605590|PMID:9643284|PMID:9718334|PMID:9884492 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9008952 Breast Cancer, Familial ISO RGD:731858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9009121 lung metastasis ISO RGD:731858 D RGD:9068941 20211217 RGD associated with hepatocellular carcinoma PMID:26443326|REF_RGD_ID:11076529 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731858 D RGD:9068941 20211217 RGD DNA:loss of heterozygosity PMID:11123422|REF_RGD_ID:150530507 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9256 colorectal cancer ISO RGD:731858 D RGD:9068941 20211217 RGD DNA:loss of heterozygosity PMID:24323642|REF_RGD_ID:150530506 11685378 C9H9orf50 chromosome 9 C9orf50 homolog gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1606874 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11685378 C9H9orf50 chromosome 9 C9orf50 homolog gene DOID:630 genetic disease ISO RGD:1606874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11685394 BHLHE40 basic helix-loop-helix family member e40 gene DOID:0050628 advanced sleep phase syndrome ISO RGD:68659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25395965 11685394 BHLHE40 basic helix-loop-helix family member e40 gene DOID:0080600 COVID-19 ISO RGD:68659 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 11685394 BHLHE40 basic helix-loop-helix family member e40 gene DOID:3068 glioblastoma ISO RGD:68659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23582323 11685394 BHLHE40 basic helix-loop-helix family member e40 gene DOID:3312 bipolar disorder ISO RGD:68659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25395965 11685394 BHLHE40 basic helix-loop-helix family member e40 gene DOID:630 genetic disease ISO RGD:68659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11685394 BHLHE40 basic helix-loop-helix family member e40 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11685394 BHLHE40 basic helix-loop-helix family member e40 gene DOID:9007102 Myocardial Ischemia ISO RGD:68659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11685429 TMC2 transmembrane channel like 2 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1320766 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11685429 TMC2 transmembrane channel like 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1320766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11685429 TMC2 transmembrane channel like 2 gene DOID:630 genetic disease ISO RGD:1320766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11685453 RHEBL1 RHEB like 1 gene DOID:0080600 COVID-19 ISO RGD:1346400 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11685453 RHEBL1 RHEB like 1 gene DOID:630 genetic disease ISO RGD:1346400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11685480 TRIOBP TRIO and F-actin binding protein gene DOID:0050563 nonsyndromic deafness ISO RGD:1605399 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:24033266 11685480 TRIOBP TRIO and F-actin binding protein gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1605399 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587 11685480 TRIOBP TRIO and F-actin binding protein gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1605399 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11685480 TRIOBP TRIO and F-actin binding protein gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1605399 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11685480 TRIOBP TRIO and F-actin binding protein gene DOID:0110486 autosomal recessive nonsyndromic deafness 28 ISO RGD:1605399 D RGD:7240710 20230505 OMIM 11685480 TRIOBP TRIO and F-actin binding protein gene DOID:0110486 autosomal recessive nonsyndromic deafness 28 ISO RGD:1605399 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 28 PMID:16385457|PMID:16385458|PMID:20510926|PMID:23967202|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26872740|PMID:26969326|PMID:27014650|PMID:27068579|PMID:28000701|PMID:28089734|PMID:28492532|PMID:29197352|PMID:30303587|PMID:30311386|PMID:31178897|PMID:35802133|PMID:36633841 11685480 TRIOBP TRIO and F-actin binding protein gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1605399 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11685480 TRIOBP TRIO and F-actin binding protein gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1605399 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11685480 TRIOBP TRIO and F-actin binding protein gene DOID:630 genetic disease ISO RGD:1605399 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 11685480 TRIOBP TRIO and F-actin binding protein gene DOID:9004538 Hearing Loss ISO RGD:1605399 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:16385457|PMID:16385458|PMID:20510926|PMID:24033266|PMID:25741868|PMID:28000701|PMID:28089734|PMID:28492532|PMID:29197352|PMID:30311386 11685480 TRIOBP TRIO and F-actin binding protein gene DOID:9008681 Deafness ISO RGD:1605399 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Deafness PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 11685502 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:0050545 visceral heterotaxy ISO RGD:1552230 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 11685502 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:0060321 umbilical hernia ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 11685502 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:0080006 bone development disease ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 11685502 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:0080700 caudal regression syndrome ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 11685502 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:0111546 Currarino syndrome ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 11685502 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:10488 imperforate anus ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 11685502 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:11446 sciatic neuropathy ISO RGD:620326 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:nerve: PMID:9729404|REF_RGD_ID:11556234 11685502 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:13938 amenorrhea ISO RGD:732125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11685502 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:14679 VACTERL association ISO RGD:1552230 D RGD:9068941 20200609 RGD DNA:mutation:exon:p.C470R(mouse) PMID:18519639|REF_RGD_ID:11556208 11685502 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:14679 VACTERL association ISO RGD:1552230 D RGD:9068941 20220825 MouseDO OMIM:192350 | OMIM:276950 11685502 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:14679 VACTERL association ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 11685502 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:1657 ventricular septal defect ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 11685502 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:1681 heart septal defect ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 11685502 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:234 colon adenocarcinoma ISO RGD:732125 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon: PMID:19737405|REF_RGD_ID:11556207 11685502 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:557 kidney disease ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 11685502 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:630 genetic disease ISO RGD:732125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11685502 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:850 lung disease ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 11685502 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:9000066 Jaw Abnormalities ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 11685502 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:9001018 Mouth Abnormalities ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 11685502 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:9001471 Anorectal Malformations ISO RGD:1552230 D RGD:9068941 20200609 RGD protein:decreased expression:somite PMID:21480163|REF_RGD_ID:11556204 11685502 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:9006182 Carotid Artery Injuries ISO RGD:620326 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:artery: PMID:12649739|REF_RGD_ID:11556213 11685502 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:9006778 Carotid Atherosclerosis ISO RGD:732125 D RGD:9068941 20200609 RGD protein:increased expression:myofibroblast: PMID:14970114|REF_RGD_ID:11556214 11685502 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:9007794 Lower Extremity Deformities, Congenital ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 11685502 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 11685502 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1552230 D RGD:9068941 20220825 MouseDO 11685502 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:9002245 Intestinal Neoplasms ISO RGD:1552230 D RGD:9068941 20200609 RGD PMID:19737405|REF_RGD_ID:11556207 11685537 B4GALT7 beta-1,4-galactosyltransferase 7 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1354325 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:10473568|PMID:10506123|PMID:1221956|PMID:15211654|PMID:1640425|PMID:17576681|PMID:18158310|PMID:20691685|PMID:20809901|PMID:23956117|PMID:24755949|PMID:25533962|PMID:25741868|PMID:26940150|PMID:28492532|PMID:28882145|PMID:30914273|PMID:31278392|PMID:31614862|PMID:32429945|PMID:3631078|PMID:9536098 11685537 B4GALT7 beta-1,4-galactosyltransferase 7 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1354325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:10473568|PMID:10506123|PMID:1221956|PMID:15211654|PMID:16199547|PMID:1640425|PMID:17576681|PMID:18158310|PMID:20691685|PMID:20809901|PMID:23956117|PMID:24755949|PMID:25533962|PMID:25741868|PMID:26940150|PMID:28492532|PMID:28882145|PMID:30914273|PMID:31278392|PMID:31614862|PMID:32429945|PMID:34193099|PMID:3631078|PMID:9536098 11685537 B4GALT7 beta-1,4-galactosyltransferase 7 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1354325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:1221956|PMID:15211654|PMID:1640425|PMID:18158310|PMID:20691685|PMID:20809901|PMID:23956117|PMID:24755949|PMID:25533962|PMID:25741868|PMID:26940150|PMID:28492532|PMID:31278392 11685537 B4GALT7 beta-1,4-galactosyltransferase 7 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1354325 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11685537 B4GALT7 beta-1,4-galactosyltransferase 7 gene DOID:0080738 Ehlers-Danlos syndrome spondylodysplastic type 1 ISO RGD:1354325 D RGD:7240710 20200826 OMIM 11685537 B4GALT7 beta-1,4-galactosyltransferase 7 gene DOID:0080738 Ehlers-Danlos syndrome spondylodysplastic type 1 ISO RGD:1354325 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 1 PMID:1221956|PMID:15211654|PMID:1640425|PMID:17576681|PMID:18158310|PMID:20691685|PMID:20809901|PMID:23956117|PMID:24755949|PMID:25533962|PMID:25741868|PMID:26940150|PMID:28492532|PMID:30914273|PMID:31278392|PMID:31614862|PMID:9536098 11685537 B4GALT7 beta-1,4-galactosyltransferase 7 gene DOID:0111508 Torrance type platyspondylic dysplasia ISO RGD:1354325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal skeletal dysplasia PMID:1221956|PMID:15211654|PMID:1640425|PMID:18158310|PMID:20691685|PMID:20809901|PMID:23956117|PMID:24755949|PMID:25533962|PMID:25741868|PMID:26940150|PMID:28492532|PMID:31278392 11685537 B4GALT7 beta-1,4-galactosyltransferase 7 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1354325 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 11685537 B4GALT7 beta-1,4-galactosyltransferase 7 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1354325 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28492532|PMID:31278392|PMID:31614862 11685537 B4GALT7 beta-1,4-galactosyltransferase 7 gene DOID:13359 Ehlers-Danlos syndrome susceptibility ISO RGD:1354325 D RGD:9068941 20200609 RGD DNA:transition:exon;808C>T PMID:10473568|REF_RGD_ID:1599433 11685537 B4GALT7 beta-1,4-galactosyltransferase 7 gene DOID:2729 dyskeratosis congenita ISO RGD:1354325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11685537 B4GALT7 beta-1,4-galactosyltransferase 7 gene DOID:630 genetic disease ISO RGD:1354325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25533962|PMID:25741868|PMID:26940150|PMID:28492532|PMID:31614862 11685537 B4GALT7 beta-1,4-galactosyltransferase 7 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1354325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11685537 B4GALT7 beta-1,4-galactosyltransferase 7 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1354325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 11685547 L3MBTL1 L3MBTL histone methyl-lysine binding protein 1 gene DOID:1612 breast cancer severity ISO RGD:1344736 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast (human) PMID:21837478|REF_RGD_ID:9588606 11685547 L3MBTL1 L3MBTL histone methyl-lysine binding protein 1 gene DOID:2234 focal epilepsy ISO RGD:1344736 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11685547 L3MBTL1 L3MBTL histone methyl-lysine binding protein 1 gene DOID:630 genetic disease ISO RGD:1344736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11685581 CLIC5 chloride intracellular channel 5 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1351761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 11685581 CLIC5 chloride intracellular channel 5 gene DOID:0110464 autosomal recessive nonsyndromic deafness 103 ISO RGD:1351761 D RGD:7240710 20180130 OMIM 11685581 CLIC5 chloride intracellular channel 5 gene DOID:0110464 autosomal recessive nonsyndromic deafness 103 ISO RGD:1351761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 103 PMID:24033266|PMID:24781754|PMID:25741868|PMID:28492532 11685581 CLIC5 chloride intracellular channel 5 gene DOID:630 genetic disease ISO RGD:1351761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11685581 CLIC5 chloride intracellular channel 5 gene DOID:9004538 Hearing Loss ISO RGD:1351761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 11685596 PPCDC phosphopantothenoylcysteine decarboxylase gene DOID:2717 Bloom syndrome ISO RGD:1605355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11685596 PPCDC phosphopantothenoylcysteine decarboxylase gene DOID:5419 schizophrenia ISO RGD:1605355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11685596 PPCDC phosphopantothenoylcysteine decarboxylase gene DOID:630 genetic disease ISO RGD:1605355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11685596 PPCDC phosphopantothenoylcysteine decarboxylase gene DOID:9256 colorectal cancer ISO RGD:1605355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11685607 ZNF19 zinc finger protein 19 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1349877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11685607 ZNF19 zinc finger protein 19 gene DOID:630 genetic disease ISO RGD:1349877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11685634 GPR143 G protein-coupled receptor 143 gene DOID:0050633 ocular albinism ISO RGD:1558529 D RGD:9068941 20220825 MouseDO OMIM:300500 11685634 GPR143 G protein-coupled receptor 143 gene DOID:0111795 congenital nystagmus 6 ISO RGD:1353035 D RGD:7240710 20180130 OMIM 11685634 GPR143 G protein-coupled receptor 143 gene DOID:0111795 congenital nystagmus 6 ISO RGD:1353035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nystagmus 6, congenital, X-linked PMID:15965158|PMID:17516023|PMID:18523664|PMID:18978956|PMID:19390656|PMID:21541274|PMID:25741868|PMID:26160353|PMID:28211458|PMID:28492532 11685634 GPR143 G protein-coupled receptor 143 gene DOID:12849 autistic disorder ISO RGD:1353035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11685634 GPR143 G protein-coupled receptor 143 gene DOID:630 genetic disease ISO RGD:1353035 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11115845|PMID:11214907|PMID:16704458|PMID:21541274|PMID:21739261|PMID:25741868|PMID:27734839|PMID:28492532|PMID:28559085|PMID:29345414|PMID:34251969|PMID:7647783 11685634 GPR143 G protein-coupled receptor 143 gene DOID:9001386 Albinism ISO RGD:1353035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Albinism PMID:28041643|PMID:8634705 11685634 GPR143 G protein-coupled receptor 143 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11685634 GPR143 G protein-coupled receptor 143 gene DOID:9005467 Ocular Albinism Type 1 ISO RGD:1353035 D RGD:7240710 20180130 OMIM 11685634 GPR143 G protein-coupled receptor 143 gene DOID:9005467 Ocular Albinism Type 1 ISO RGD:1353035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ocular albinism, type I PMID:11214907|PMID:11520764|PMID:1427786|PMID:15965158|PMID:16199547|PMID:1652548|PMID:16646960|PMID:17576681|PMID:17960122|PMID:18978956|PMID:19390656|PMID:19610097|PMID:21541274|PMID:25741868|PMID:26160353|PMID:28211458|PMID:28492532|PMID:5125647|PMID:7647783|PMID:8400292|PMID:8634705|PMID:9529334|PMID:9536098|PMID:9887374 11685634 GPR143 G protein-coupled receptor 143 gene DOID:9650 pathologic nystagmus ISO RGD:1353035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:15965158|PMID:18978956|PMID:19390656|PMID:21541274|PMID:25741868|PMID:26160353|PMID:28211458|PMID:28492532 11685653 ARPC1B actin related protein 2/3 complex subunit 1B gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:736395 D RGD:9068941 20200609 RGD protein:increased expression:oral mucosa (human) PMID:26138391|REF_RGD_ID:11046268 11685653 ARPC1B actin related protein 2/3 complex subunit 1B gene DOID:0050908 myelodysplastic syndrome treatment ISO RGD:736395 D RGD:9068941 20200609 RGD PMID:22608605|REF_RGD_ID:11046272 11685653 ARPC1B actin related protein 2/3 complex subunit 1B gene DOID:0111962 combined immunodeficiency ISO RGD:736395 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:25741868|PMID:32499645 11685653 ARPC1B actin related protein 2/3 complex subunit 1B gene DOID:0112004 immunodeficiency 71 ISO RGD:736395 D RGD:7240710 20190315 OMIM 11685653 ARPC1B actin related protein 2/3 complex subunit 1B gene DOID:0112004 immunodeficiency 71 ISO RGD:736395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease PMID:17576681|PMID:25741868|PMID:28368018|PMID:28492532|PMID:29127144|PMID:30254128|PMID:32499645|PMID:33679784|PMID:9536098 11685653 ARPC1B actin related protein 2/3 complex subunit 1B gene DOID:10534 stomach cancer ISO RGD:736395 D RGD:9068941 20200609 RGD mRNA:decreased expression:gastric epithelium (human) PMID:15279900|REF_RGD_ID:11046270 11685653 ARPC1B actin related protein 2/3 complex subunit 1B gene DOID:2213 hemorrhagic disease ISO RGD:736395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532 11685653 ARPC1B actin related protein 2/3 complex subunit 1B gene DOID:4029 gastritis ISO RGD:736395 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: (human) PMID:23292007|REF_RGD_ID:11046273 11685653 ARPC1B actin related protein 2/3 complex subunit 1B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11685653 ARPC1B actin related protein 2/3 complex subunit 1B gene DOID:5419 schizophrenia ISO RGD:736395 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex (human) PMID:15098003|REF_RGD_ID:11571619 11685653 ARPC1B actin related protein 2/3 complex subunit 1B gene DOID:612 primary immunodeficiency disease ISO RGD:736395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11685653 ARPC1B actin related protein 2/3 complex subunit 1B gene DOID:630 genetic disease ISO RGD:736395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11685653 ARPC1B actin related protein 2/3 complex subunit 1B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11685666 VAX2 ventral anterior homeobox 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:731657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 11685666 VAX2 ventral anterior homeobox 2 gene DOID:543 dystonia ISO RGD:731657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11685666 VAX2 ventral anterior homeobox 2 gene DOID:630 genetic disease ISO RGD:731657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11685666 VAX2 ventral anterior homeobox 2 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:731657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11685673 RUNDC3B RUN domain containing 3B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11685673 RUNDC3B RUN domain containing 3B gene DOID:630 genetic disease ISO RGD:1601714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11685689 DCAF12L2 DDB1 and CUL4 associated factor 12 like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11685689 DCAF12L2 DDB1 and CUL4 associated factor 12 like 2 gene DOID:12849 autistic disorder ISO RGD:1603495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11685689 DCAF12L2 DDB1 and CUL4 associated factor 12 like 2 gene DOID:630 genetic disease ISO RGD:1603495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11685695 MOCS2 molybdenum cofactor synthesis 2 gene DOID:0111045 platelet-type bleeding disorder 9 ISO RGD:1347583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COLLAGEN PLATELET RECEPTOR DEFICIENCY | ClinVar Annotator: match by term: Platelet-type bleeding disorder 9 11685695 MOCS2 molybdenum cofactor synthesis 2 gene DOID:0111163 molybdenum cofactor deficiency type B ISO RGD:1347583 D RGD:7240710 20180130 OMIM 11685695 MOCS2 molybdenum cofactor synthesis 2 gene DOID:0111163 molybdenum cofactor deficiency type B ISO RGD:1347583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group B PMID:10053003|PMID:10053004|PMID:11746050|PMID:12732628|PMID:12754701|PMID:1427786|PMID:16021469|PMID:16737835|PMID:17576681|PMID:21031595|PMID:23436702|PMID:24033266|PMID:25741868|PMID:27146152|PMID:27289259|PMID:28492532|PMID:30810871|PMID:33502714|PMID:9459218|PMID:9536098 11685695 MOCS2 molybdenum cofactor synthesis 2 gene DOID:0111164 molybdenum cofactor deficiency type A ISO RGD:1347583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group A PMID:11746050|PMID:21031595|PMID:28492532 11685695 MOCS2 molybdenum cofactor synthesis 2 gene DOID:0111165 molybdenum cofactor deficiency ISO RGD:1347583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency PMID:10053004|PMID:28492532 11685695 MOCS2 molybdenum cofactor synthesis 2 gene DOID:630 genetic disease ISO RGD:1347583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11685695 MOCS2 molybdenum cofactor synthesis 2 gene DOID:655 inherited metabolic disorder ISO RGD:1553221 D RGD:9068941 20220825 MouseDO 11685695 MOCS2 molybdenum cofactor synthesis 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11685709 CBY1 chibby family member 1, beta catenin antagonist gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1343969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11685709 CBY1 chibby family member 1, beta catenin antagonist gene DOID:0050777 Joubert syndrome ISO RGD:1343969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:33131181 11685709 CBY1 chibby family member 1, beta catenin antagonist gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1343969 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11685709 CBY1 chibby family member 1, beta catenin antagonist gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1343969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11685709 CBY1 chibby family member 1, beta catenin antagonist gene DOID:10283 prostate cancer ISO RGD:1343969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11685709 CBY1 chibby family member 1, beta catenin antagonist gene DOID:10754 otitis media ISO RGD:1616726 D RGD:9068941 20220825 MouseDO OMIM:166760 11685709 CBY1 chibby family member 1, beta catenin antagonist gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11685709 CBY1 chibby family member 1, beta catenin antagonist gene DOID:630 genetic disease ISO RGD:1343969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11685709 CBY1 chibby family member 1, beta catenin antagonist gene DOID:9562 primary ciliary dyskinesia ISO RGD:1616726 D RGD:9068941 20220825 MouseDO 11685736 RRP1B ribosomal RNA processing 1B gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1313777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 11685736 RRP1B ribosomal RNA processing 1B gene DOID:0110266 cataract 9 multiple types ISO RGD:1313777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11685736 RRP1B ribosomal RNA processing 1B gene DOID:12849 autistic disorder ISO RGD:1313777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11685736 RRP1B ribosomal RNA processing 1B gene DOID:630 genetic disease ISO RGD:1313777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11685736 RRP1B ribosomal RNA processing 1B gene DOID:891 progressive myoclonus epilepsy ISO RGD:1313777 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11685736 RRP1B ribosomal RNA processing 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11685736 RRP1B ribosomal RNA processing 1B gene DOID:9263 homocystinuria ISO RGD:1313777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11685736 RRP1B ribosomal RNA processing 1B gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11685757 VSIG1 V-set and immunoglobulin domain containing 1 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1347101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 11685757 VSIG1 V-set and immunoglobulin domain containing 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11685757 VSIG1 V-set and immunoglobulin domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1347101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11685757 VSIG1 V-set and immunoglobulin domain containing 1 gene DOID:630 genetic disease ISO RGD:1347101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11685772 RLN2 relaxin 2 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1348053 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 11685772 RLN2 relaxin 2 gene DOID:630 genetic disease ISO RGD:1348053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11685772 RLN2 relaxin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348053 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16434975 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:0060478 Zika fever ISO RGD:62396 D RGD:9068941 20200702 RGD mRNA:increased expression:brain PMID:30241539|REF_RGD_ID:32733625 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:69165 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U PMID:28492532 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:10320 asbestosis ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25324550 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:2316 brain ischemia ISO RGD:62391 D RGD:9068941 20200609 RGD Protein:increased expression:brain PMID:15921666|REF_RGD_ID:1599731 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:2527 nephrosis ISO RGD:62391 D RGD:9068941 20200609 RGD Protein:increased expression:glomerulus, podocyte PMID:16400006|REF_RGD_ID:1599729 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:2527 nephrosis ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16400006 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:2773 contact dermatitis ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:2957 pulmonary tuberculosis ISO RGD:69165 D RGD:9068941 20200702 RGD mRNA,protein:increased expression:lung PMID:20856677|REF_RGD_ID:34888225 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:3021 acute kidney failure ISO RGD:62391 D RGD:9068941 20200609 RGD Protein:increased expression:renal tubule epithelium PMID:15476864|REF_RGD_ID:1599736 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:62391 D RGD:9068941 20200609 RGD PMID:24694971|REF_RGD_ID:13782182 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:5154 borna disease ISO RGD:62391 D RGD:9068941 20200702 RGD mRNA,protein:increased expression:cerebellum, hippocampus PMID:16912310|REF_RGD_ID:32733622 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:5199 ureteral obstruction treatment ISO RGD:62391 D RGD:9068941 20200609 RGD PMID:25707520|REF_RGD_ID:13782175 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:5295 intestinal disease ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20668000 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:5363 myxoid liposarcoma ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1283316|PMID:7503811|PMID:8510758 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:5363 myxoid liposarcoma ISO RGD:69165 D RGD:9068941 20200609 RGD DNA:translocation: ;t(12;16)(q13;p11) PMID:1283316|REF_RGD_ID:1599726 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:62391 D RGD:9068941 20200903 RGD protein:increased expression:lung PMID:32209028|REF_RGD_ID:38549370 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:69165 D RGD:9068941 20200903 RGD protein:increased expression:lung, endothelial cell PMID:32209028|REF_RGD_ID:38549370 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:5844 myocardial infarction ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25450231 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:607 paraplegia ISO RGD:69165 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:630 genetic disease ISO RGD:69165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:6846 familial melanoma ISO RGD:69165 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:62391 D RGD:9068941 20200709 RGD PMID:30226536|REF_RGD_ID:35316073 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:69165 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease PMID:28492532 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:62391 D RGD:9068941 20200709 RGD associated with Crush Injuries PMID:30465396|REF_RGD_ID:34901874 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:9004713 Acute-Phase Reaction ISO RGD:62391 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:8051100|REF_RGD_ID:1599745 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:9005175 Ulcer ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20668000 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:9005666 Contrast-Induced Nephropathy treatment ISO RGD:62391 D RGD:9068941 20200609 RGD PMID:27781957|REF_RGD_ID:13782262 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:62396 D RGD:9068941 20230302 RGD PMID:36044268|REF_RGD_ID:156430337 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:9008022 Temporomandibular Joint Osteoarthritis ISO RGD:62391 D RGD:9068941 20200709 RGD mRNA,protein:increased expression:chondrocyte PMID:31007149|REF_RGD_ID:34888237 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:9008939 Breast Neoplasms ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14604972 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:9282 ocular hypertension ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24691439 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:9452 fatty liver disease ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27664470 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23499715 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:9870 galactosemia ISO RGD:62391 D RGD:9068941 20200609 RGD Protein:increased expression:lens epithelium PMID:16936110|REF_RGD_ID:1599728 11685790 DDIT3 DNA damage inducible transcript 3 gene DOID:9970 obesity ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26655953 11685810 ANKRD10 ankyrin repeat domain 10 gene DOID:2222 factor X deficiency ISO RGD:1321439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 11685810 ANKRD10 ankyrin repeat domain 10 gene DOID:630 genetic disease ISO RGD:1321439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11685810 ANKRD10 ankyrin repeat domain 10 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1321439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11685822 OTUD6B OTU deubiquitinase 6B gene DOID:1826 epilepsy ISO RGD:1602119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868|PMID:28343629|PMID:28492532|PMID:31147255|PMID:32924626 11685822 OTUD6B OTU deubiquitinase 6B gene DOID:630 genetic disease ISO RGD:1602119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28343629|PMID:28492532|PMID:31147255|PMID:32924626 11685822 OTUD6B OTU deubiquitinase 6B gene DOID:9000505 Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies ISO RGD:1602119 D RGD:7240710 20190315 OMIM 11685822 OTUD6B OTU deubiquitinase 6B gene DOID:9000505 Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies ISO RGD:1602119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies PMID:25741868|PMID:28343629|PMID:28492532|PMID:31147255|PMID:32181568|PMID:32924626 11685838 MATR3 matrin 3 gene DOID:0060212 amyotrophic lateral sclerosis type 21 ISO RGD:736833 D RGD:7240710 20180130 OMIM 11685838 MATR3 matrin 3 gene DOID:0060212 amyotrophic lateral sclerosis type 21 ISO RGD:736833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 PMID:17576681|PMID:19344878|PMID:24686783|PMID:25154462|PMID:25185957|PMID:25677933|PMID:25741868|PMID:25771394|PMID:25952333|PMID:26467025|PMID:26493020|PMID:26528920|PMID:26780671|PMID:28029397|PMID:28492532|PMID:29109432|PMID:30015619|PMID:30563574|PMID:31019288|PMID:32028661|PMID:9536098|PMID:9837826 11685838 MATR3 matrin 3 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:736833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11685838 MATR3 matrin 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736833 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11685838 MATR3 matrin 3 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:736833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 11685838 MATR3 matrin 3 gene DOID:11720 distal myopathy ISO RGD:736833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal myopathy | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type 11685838 MATR3 matrin 3 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 11685838 MATR3 matrin 3 gene DOID:630 genetic disease ISO RGD:736833 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11685838 MATR3 matrin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11685838 MATR3 matrin 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736833 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11685887 ABHD12 abhydrolase domain containing 12, lysophospholipase gene DOID:0050795 cone dystrophy ISO RGD:1314604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:24697911 11685887 ABHD12 abhydrolase domain containing 12, lysophospholipase gene DOID:0080181 PHARC syndrome ISO RGD:1314604 D RGD:7240710 20180130 OMIM 11685887 ABHD12 abhydrolase domain containing 12, lysophospholipase gene DOID:0080181 PHARC syndrome ISO RGD:1314604 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: PHARC syndrome PMID:17576681|PMID:20797687|PMID:23806086|PMID:24088041|PMID:24697911|PMID:25741868|PMID:26257172|PMID:26467025|PMID:28041643|PMID:28492532|PMID:29571850|PMID:31690835|PMID:9536098 11685887 ABHD12 abhydrolase domain containing 12, lysophospholipase gene DOID:630 genetic disease ISO RGD:1314604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11685887 ABHD12 abhydrolase domain containing 12, lysophospholipase gene DOID:8501 fundus dystrophy ISO RGD:1314604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:22938382|PMID:28041643|PMID:28492532 11685887 ABHD12 abhydrolase domain containing 12, lysophospholipase gene DOID:9004538 Hearing Loss ISO RGD:1314604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 11685911 FBXO16 F-box protein 16 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1312847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11685911 FBXO16 F-box protein 16 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1312847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11685911 FBXO16 F-box protein 16 gene DOID:630 genetic disease ISO RGD:1312847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11685937 CUL2 cullin 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:1321670 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983784 11685937 CUL2 cullin 2 gene DOID:630 genetic disease ISO RGD:1321670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11685969 CPPED1 calcineurin like phosphoesterase domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1602325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11685969 CPPED1 calcineurin like phosphoesterase domain containing 1 gene DOID:630 genetic disease ISO RGD:1602325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11685980 RIPK1 receptor interacting serine/threonine kinase 1 gene DOID:0111952 immunodeficiency 57 ISO RGD:1320896 D RGD:7240710 20190410 OMIM 11685980 RIPK1 receptor interacting serine/threonine kinase 1 gene DOID:0111952 immunodeficiency 57 ISO RGD:1320896 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome | ClinVar Annotator: match by term: Immunodeficiency 57 PMID:25741868|PMID:28492532|PMID:30026316|PMID:30591564|PMID:31213653|PMID:32181283 11685980 RIPK1 receptor interacting serine/threonine kinase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320897 D RGD:9068941 20200609 RGD PMID:22908283|REF_RGD_ID:7777166 11685980 RIPK1 receptor interacting serine/threonine kinase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1320896 D RGD:9068941 20200609 RGD PMID:19778795|REF_RGD_ID:7777170 11685980 RIPK1 receptor interacting serine/threonine kinase 1 gene DOID:1826 epilepsy ameliorates ISO RGD:1310158 D RGD:9068941 20230216 RGD PMID:32308116|REF_RGD_ID:156420143 11685980 RIPK1 receptor interacting serine/threonine kinase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1320896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11685980 RIPK1 receptor interacting serine/threonine kinase 1 gene DOID:630 genetic disease ISO RGD:1320896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11685980 RIPK1 receptor interacting serine/threonine kinase 1 gene DOID:9004604 Autoinflammation with Episodic Fever and Lymphadenopathy ISO RGD:1320896 D RGD:7240710 20200708 OMIM 11685980 RIPK1 receptor interacting serine/threonine kinase 1 gene DOID:9004604 Autoinflammation with Episodic Fever and Lymphadenopathy ISO RGD:1320896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoinflammation with episodic fever and lymphadenopathy PMID:25741868|PMID:28492532|PMID:31827280|PMID:31827281 11685980 RIPK1 receptor interacting serine/threonine kinase 1 gene DOID:9201 lichen planus ISO RGD:1320896 D RGD:9068941 20200609 RGD PMID:20368033|REF_RGD_ID:7777168 11686001 FCRL4 Fc receptor like 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1603196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11686001 FCRL4 Fc receptor like 4 gene DOID:630 genetic disease ISO RGD:1603196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11686001 FCRL4 Fc receptor like 4 gene DOID:9008386 Hydrops Fetalis ISO RGD:1603196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 11686001 FCRL4 Fc receptor like 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11686027 LRMDA leucine rich melanocyte differentiation associated gene DOID:0060224 atrial fibrillation ISO RGD:1321229 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11686027 LRMDA leucine rich melanocyte differentiation associated gene DOID:0070100 oculocutaneous albinism type VII ISO RGD:1321229 D RGD:7240710 20180130 OMIM 11686027 LRMDA leucine rich melanocyte differentiation associated gene DOID:0070100 oculocutaneous albinism type VII ISO RGD:1321229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism type 7 PMID:23395477|PMID:25741868|PMID:26818737|PMID:28492532|PMID:29345414|PMID:31694064 11686027 LRMDA leucine rich melanocyte differentiation associated gene DOID:303 substance-related disorder ISO RGD:1321229 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11686027 LRMDA leucine rich melanocyte differentiation associated gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1321229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:22077973|PMID:23436491|PMID:25424711|PMID:27880066|PMID:28492532 11686044 AMOTL2 angiomotin like 2 gene DOID:630 genetic disease ISO RGD:737053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11686044 AMOTL2 angiomotin like 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:737053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 11686058 EARS2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1604541 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:28492532 11686058 EARS2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:1604541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:28492532 11686058 EARS2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1604541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:28492532|PMID:31680123 11686058 EARS2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:0111493 combined oxidative phosphorylation deficiency 12 ISO RGD:1604541 D RGD:7240710 20180130 OMIM 11686058 EARS2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:0111493 combined oxidative phosphorylation deficiency 12 ISO RGD:1604541 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome PMID:22492562|PMID:23008233|PMID:24706556|PMID:25741868|PMID:26741492|PMID:26780086|PMID:26893310|PMID:27117034|PMID:27290639|PMID:28492532|PMID:28748214|PMID:28748215|PMID:28973083|PMID:31520968|PMID:31665838|PMID:32887222|PMID:33128823|PMID:33258288|PMID:33855712|PMID:33962821|PMID:34440436 11686058 EARS2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1604541 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22492562|PMID:25741868|PMID:26780086|PMID:26893310|PMID:28492532|PMID:28748214|PMID:28748215|PMID:31520968|PMID:33128823 11686058 EARS2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:9008086 Developmental Disabilities ISO RGD:1604541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22492562|PMID:25741868|PMID:26893310|PMID:28492532 11686101 GINS4 GINS complex subunit 4 gene DOID:630 genetic disease ISO RGD:1601940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11686145 OXLD1 oxidoreductase like domain containing 1 gene DOID:630 genetic disease ISO RGD:2290031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11686167 MRPL47 mitochondrial ribosomal protein L47 gene DOID:0111546 Currarino syndrome ISO RGD:1316780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11686167 MRPL47 mitochondrial ribosomal protein L47 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1316780 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 11686167 MRPL47 mitochondrial ribosomal protein L47 gene DOID:630 genetic disease ISO RGD:1316780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11686180 KLHDC8A kelch domain containing 8A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1605377 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11686180 KLHDC8A kelch domain containing 8A gene DOID:12849 autistic disorder ISO RGD:1605377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11686180 KLHDC8A kelch domain containing 8A gene DOID:1540 parathyroid carcinoma ISO RGD:1605377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11686180 KLHDC8A kelch domain containing 8A gene DOID:630 genetic disease ISO RGD:1605377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11686180 KLHDC8A kelch domain containing 8A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1605377 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11686180 KLHDC8A kelch domain containing 8A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11686195 LOC100975391 olfactory receptor 5A1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1354277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11686195 LOC100975391 olfactory receptor 5A1 gene DOID:1059 intellectual disability ISO RGD:1354277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11686195 LOC100975391 olfactory receptor 5A1 gene DOID:630 genetic disease ISO RGD:1354277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11686199 RIPOR2 RHO family interacting cell polarization regulator 2 gene DOID:0110465 autosomal recessive nonsyndromic deafness 104 ISO RGD:1315839 D RGD:7240710 20180130 OMIM 11686199 RIPOR2 RHO family interacting cell polarization regulator 2 gene DOID:0110465 autosomal recessive nonsyndromic deafness 104 ISO RGD:1315839 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 104 PMID:24033266|PMID:24958875|PMID:25741868|PMID:28492532 11686199 RIPOR2 RHO family interacting cell polarization regulator 2 gene DOID:0110551 autosomal dominant nonsyndromic deafness 21 ISO RGD:1315839 D RGD:7240710 20220406 OMIM 11686199 RIPOR2 RHO family interacting cell polarization regulator 2 gene DOID:0110551 autosomal dominant nonsyndromic deafness 21 ISO RGD:1315839 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 21 PMID:10764236|PMID:25741868|PMID:28492532|PMID:32631815 11686199 RIPOR2 RHO family interacting cell polarization regulator 2 gene DOID:630 genetic disease ISO RGD:1315839 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:0050331 LADD syndrome ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: LACRIMOAURICULODENTODIGITAL SYNDROME | ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10671061|PMID:10696568|PMID:10861678|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15772091|PMID:15915095|PMID:16501574|PMID:16841094|PMID:17384684|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:21510009|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28483234|PMID:28492532|PMID:32238909|PMID:7647778|PMID:7773297|PMID:8589699|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Short ribs PMID:10073901|PMID:10471491|PMID:10696568|PMID:11241532|PMID:11529856|PMID:12833394|PMID:15772091|PMID:16841094|PMID:18642369|PMID:1908846|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8858131|PMID:9677066 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:0050736 autosomal dominant disease ISO RGD:733045 D RGD:9068941 20220825 MouseDO 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:733044 D RGD:9068941 20200813 RGD associated with human papillomavirus;DNA:missense mutation:cds: p.S249C (human) PMID:30563911|REF_RGD_ID:38500239 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:0050920 tonsil squamous cell carcinoma severity ISO RGD:733044 D RGD:9068941 20200806 RGD associated with human papillomavirus;protein:decreased expression:tumor cells (human) PMID:30061236|REF_RGD_ID:36947883 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:0060041 autism spectrum disorder ISO RGD:733044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:0060249 scoliosis ISO RGD:733045 D RGD:9068941 20220825 MouseDO 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:0060703 Muenke syndrome ISO RGD:733044 D RGD:7240710 20180130 OMIM 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:0060703 Muenke syndrome ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Muenke syndrome | ClinVar Annotator: match by term: Syndrome of coronal craniosynostosis PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10671061|PMID:10696568|PMID:10861678|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15772091|PMID:15915095|PMID:16841094|PMID:17384684|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:21510009|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28492532|PMID:31976144|PMID:32238909|PMID:7647778|PMID:7773297|PMID:8589699|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:0070004 myeloid neoplasm ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myeloproliferative disorder PMID:11429702|PMID:19088846|PMID:19331127|PMID:19381019|PMID:20301540|PMID:20542753|PMID:21273588|PMID:22869148|PMID:23200862|PMID:24419316|PMID:24476948|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28249712|PMID:28492532|PMID:29593476|PMID:30692697|PMID:31299979|PMID:8845844|PMID:9438390|PMID:9843049 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:0070309 absence epilepsy ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Absence seizures PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:0080006 bone development disease ISO RGD:733044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:10073901|PMID:10471491|PMID:10696568|PMID:11241532|PMID:11529856|PMID:12833394|PMID:15772091|PMID:16841094|PMID:16912704|PMID:18642369|PMID:1908846|PMID:19215249|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25741868|PMID:26619011|PMID:28492532|PMID:32981126|PMID:7773297|PMID:8858131|PMID:9677066 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:0080041 hypochondroplasia ISO RGD:733044 D RGD:7240710 20180130 OMIM 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:0080041 hypochondroplasia ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypochondroplasia PMID:10053006|PMID:10073901|PMID:10094188|PMID:10215410|PMID:10360392|PMID:10360393|PMID:10361991|PMID:10395236|PMID:10425034|PMID:10471491|PMID:10607835|PMID:10671061|PMID:10696568|PMID:10777366|PMID:10861678|PMID:10979354|PMID:11030304|PMID:11038465|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11241532|PMID:11314002|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11754059|PMID:11879084|PMID:12707965|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15517832|PMID:15772091|PMID:15915095|PMID:16766665|PMID:16841094|PMID:16912704|PMID:17256796|PMID:17384684|PMID:17526800|PMID:17552943|PMID:17875876|PMID:17895900|PMID:18000903|PMID:18076102|PMID:18198189|PMID:18252861|PMID:18266238|PMID:18328977|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301331|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:20624921|PMID:21324899|PMID:21510009|PMID:21739570|PMID:22016144|PMID:22045636|PMID:22339077|PMID:22622662|PMID:22628360|PMID:22903874|PMID:23045425|PMID:23056398|PMID:23149434|PMID:23165795|PMID:23573386|PMID:23726269|PMID:23972473|PMID:24411048|PMID:24715719|PMID:24728327|PMID:25157968|PMID:25505835|PMID:25606676|PMID:25614871|PMID:25691418|PMID:25728633|PMID:25741868|PMID:25777271|PMID:25809207|PMID:26220993|PMID:26380986|PMID:26467025|PMID:26619011|PMID:26740388|PMID:26754866|PMID:26818779|PMID:26887047|PMID:26992226|PMID:28181399|PMID:28230213|PMID:28492532|PMID:28763161|PMID:28777845|PMID:29595812|PMID:29620724|PMID:29681095|PMID:30138938|PMID:30355600|PMID:30681580|PMID:30692697|PMID:30753492|PMID:31048079|PMID:31130284|PMID:31218223|PMID:31299979|PMID:31994750|PMID:32238909|PMID:32502767|PMID:33942288|PMID:4697848|PMID:7647778|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7773297|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589686|PMID:8589699|PMID:8673103|PMID:8723101|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9450868|PMID:9452043|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9672519|PMID:9677066|PMID:9842995|PMID:9843059|PMID:9857065|PMID:9950359 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:0111158 SADDAN ISO RGD:733044 D RGD:7240710 20180418 OMIM 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:0111158 SADDAN ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: SADDAN dysplasia | ClinVar Annotator: match by term: Severe achondroplasia with developmental delay and acanthosis nigricans PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10671061|PMID:10696568|PMID:10861678|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15772091|PMID:15915095|PMID:16841094|PMID:17384684|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:21510009|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28492532|PMID:32238909|PMID:7647778|PMID:7773297|PMID:8589699|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome ISO RGD:733044 D RGD:7240710 20180130 OMIM 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Camptodactyly, tall stature, and hearing loss syndrome | ClinVar Annotator: match by term: Camptodactyly-tall stature-scoliosis-hearing loss syndrome PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10671061|PMID:10696568|PMID:10861678|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15772091|PMID:15915095|PMID:16199547|PMID:16841094|PMID:17033969|PMID:17384684|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:21510009|PMID:22016144|PMID:22622662|PMID:24728327|PMID:24864036|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:27139183|PMID:28252636|PMID:28492532|PMID:32238909|PMID:7647778|PMID:7773297|PMID:8589699|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:0111161 Crouzon syndrome-acanthosis nigricans syndrome ISO RGD:733044 D RGD:7240710 20180130 OMIM 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:0111161 Crouzon syndrome-acanthosis nigricans syndrome ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Crouzon syndrome with acanthosis nigricans | ClinVar Annotator: match by term: Crouzon syndrome-acanthosis nigricans syndrome PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10671061|PMID:10696568|PMID:10861678|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11424131|PMID:11426459|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15772091|PMID:15915095|PMID:16841094|PMID:17384684|PMID:17552943|PMID:17576681|PMID:17875876|PMID:17935505|PMID:18076102|PMID:18583390|PMID:18642369|PMID:18976668|PMID:1908846|PMID:19088846|PMID:19165726|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20199409|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:21510009|PMID:21536014|PMID:22016144|PMID:22622662|PMID:23437153|PMID:24728327|PMID:25157968|PMID:25326635|PMID:25606676|PMID:25614871|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28492532|PMID:32238909|PMID:7493034|PMID:7647778|PMID:7773297|PMID:8589699|PMID:8723106|PMID:8841188|PMID:8858131|PMID:8880573|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9536098|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:0111162 epidermal nevus ISO RGD:733044 D RGD:7240710 20180130 OMIM 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:0111162 epidermal nevus ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epidermal nevus | ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10607835|PMID:10671061|PMID:10696568|PMID:10861678|PMID:10979354|PMID:11030304|PMID:11038465|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12009017|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15517832|PMID:15772091|PMID:15915095|PMID:16766665|PMID:16841094|PMID:17384684|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18266238|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301331|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:20624921|PMID:21324899|PMID:21510009|PMID:21739570|PMID:22016144|PMID:22045636|PMID:22622662|PMID:23056398|PMID:24728327|PMID:24863959|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25691418|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28230213|PMID:28492532|PMID:28777845|PMID:29681095|PMID:30138938|PMID:30692697|PMID:31218223|PMID:31299979|PMID:31994750|PMID:32238909|PMID:32502767|PMID:33942288|PMID:7647778|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7773297|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589699|PMID:8673103|PMID:8723106|PMID:8841188|PMID:8845844|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9790257|PMID:9843059|PMID:9857065|PMID:9950359 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:733044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26467025|PMID:26893459|PMID:28492532 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:11054 urinary bladder cancer ISO RGD:733044 D RGD:7240710 20180130 OMIM 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:11054 urinary bladder cancer ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder | ClinVar Annotator: match by term: Urinary bladder cancer PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10671061|PMID:10696568|PMID:10861678|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11314002|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15772091|PMID:15915095|PMID:16841094|PMID:16912704|PMID:17384684|PMID:17552943|PMID:17875876|PMID:18000903|PMID:18076102|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:21510009|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28492532|PMID:32238909|PMID:7647778|PMID:7773297|PMID:8589699|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:733044 D RGD:9068941 20200609 RGD DNA:mutation PMID:18166262|REF_RGD_ID:2301224 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:733044 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:18072261|REF_RGD_ID:2301225 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:11054 urinary bladder cancer severity ISO RGD:733044 D RGD:9068941 20200609 RGD DNA:mutations PMID:18231634|REF_RGD_ID:2301223 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:1115 sarcoma ISO RGD:733044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:25741868|PMID:28492532 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:11166 papillomavirus infectious disease ISO RGD:733044 D RGD:9068941 20211119 RGD associated with head and neck squamous cell carcinoma;DNA:missense mutation:cds: p.S249C (human) PMID:25056374|REF_RGD_ID:38500237 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:12960 acrocephalosyndactylia ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:13481 thanatophoric dysplasia ISO RGD:733044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19855393 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:13481 thanatophoric dysplasia ISO RGD:733044 D RGD:9068941 20200609 RGD DNA:transition:CDS:742C>T, amino acid R248C PMID:10073901|REF_RGD_ID:2289863 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:13481 thanatophoric dysplasia ISO RGD:733044 D RGD:9068941 20200609 RGD protein:increased expression:necleus,chondrocyte: PMID:9302269|REF_RGD_ID:11568030 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:13481 thanatophoric dysplasia ISO RGD:733045 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.S365C (mouse) PMID:11181569|REF_RGD_ID:12910972 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:13481 thanatophoric dysplasia ISO RGD:733045 D RGD:9068941 20220825 MouseDO OMIM:187600 | OMIM:187601 | OMIM:273680 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:14764 Larsen syndrome ISO RGD:733044 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Larsen syndrome PMID:10360392|PMID:10361991|PMID:10395236|PMID:10777366|PMID:11055896|PMID:11754059|PMID:12707965|PMID:16912704|PMID:18198189|PMID:19088846|PMID:22045636|PMID:23149434|PMID:23165795|PMID:24715719|PMID:25614871|PMID:25741868|PMID:26380986|PMID:28492532|PMID:7670477|PMID:8589686|PMID:9452043|PMID:9672519 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:14768 Saethre-Chotzen syndrome ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Saethre-Chotzen syndrome PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:1520 colon carcinoma ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma PMID:10073901|PMID:10471491|PMID:10696568|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11529856|PMID:11879084|PMID:11906172|PMID:12833394|PMID:15772091|PMID:16841094|PMID:17384684|PMID:17875876|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20453470|PMID:21510009|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26818779|PMID:28492532|PMID:7773297|PMID:8589699|PMID:8858131|PMID:9677066 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:1612 breast cancer ISO RGD:733044 D RGD:9068941 20200609 RGD protein:altered localization:even cytoplasmic-nuclear distribution to primarily nuclear PMID:11329138|REF_RGD_ID:2289867 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:1826 epilepsy ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seizure PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:1856 cherubism ISO RGD:733044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:2339 Crouzon syndrome ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Craniofacial dysostosis PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:2340 craniosynostosis ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis, nonspecific PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:2671 transitional cell carcinoma ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:10073901|PMID:10471491|PMID:10696568|PMID:11038465|PMID:11241532|PMID:11429702|PMID:11529856|PMID:11879084|PMID:12833394|PMID:15772091|PMID:16841094|PMID:17384684|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19331127|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20542753|PMID:21273588|PMID:22869148|PMID:23200862|PMID:24419316|PMID:24476948|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28249712|PMID:28492532|PMID:29593476|PMID:30692697|PMID:31299979|PMID:7773297|PMID:8589699|PMID:8845844|PMID:8858131|PMID:9438390|PMID:9677066|PMID:9843049 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:2871 endometrial carcinoma ISO RGD:733044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:2893 cervix carcinoma ISO RGD:733044 D RGD:9068941 20200609 RGD DNA:missense mutation:CDS:amino acid S249C, only found in 1/51 primary tumors and no cell lines tested implying that mutation frequency is much lower than previously reported PMID:11114733|REF_RGD_ID:2289865 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:2893 cervix carcinoma ISO RGD:733044 D RGD:9068941 20200609 RGD DNA:missense mutations:CDS:somatic mutations found in 3/12 (25%) of cervix carcinomas, all mutations are equivalent to activating germline mutations which cause thanatophoric dysplasia PMID:10471491|REF_RGD_ID:2289864 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:2998 testicular cancer ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cancer of the testes PMID:10073901|PMID:10471491|PMID:10696568|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11529856|PMID:11879084|PMID:12833394|PMID:15772091|PMID:16841094|PMID:17384684|PMID:17875876|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20453470|PMID:21510009|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26818779|PMID:28492532|PMID:7773297|PMID:8589699|PMID:8858131|PMID:9677066 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:305 carcinoma ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma PMID:10073901|PMID:10471491|PMID:10696568|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11426459|PMID:11429702|PMID:11529856|PMID:11879084|PMID:12009017|PMID:12624096|PMID:12833394|PMID:15772091|PMID:15880580|PMID:16752380|PMID:16841094|PMID:16912704|PMID:17384684|PMID:17935505|PMID:18642369|PMID:18976668|PMID:1908846|PMID:19088846|PMID:19165726|PMID:19331127|PMID:19381019|PMID:19749790|PMID:19855393|PMID:20199409|PMID:20301540|PMID:20453470|PMID:20542753|PMID:21273588|PMID:21510009|PMID:21536014|PMID:22869148|PMID:23200862|PMID:23437153|PMID:24075385|PMID:24419316|PMID:24476948|PMID:25157968|PMID:25326635|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28249712|PMID:28492532|PMID:29593476|PMID:30692697|PMID:31299979|PMID:7493034|PMID:7773297|PMID:8589699|PMID:8845844|PMID:8858131|PMID:8880573|PMID:9207791|PMID:9438390|PMID:9677066|PMID:9843049|PMID:9857065 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:3138 acanthosis nigricans ISO RGD:733044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acanthosis nigricans PMID:11055896|PMID:11314002|PMID:16912704|PMID:17875876|PMID:18000903|PMID:20453470|PMID:21510009|PMID:25157968|PMID:28492532 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:3213 demyelinating disease ISO RGD:733045 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:11020217|REF_RGD_ID:8655565 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:3371 chondrosarcoma ISO RGD:620714 D RGD:9068941 20200609 RGD protein:increased expression:growth plate PMID:17907424|REF_RGD_ID:11568634 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:3458 breast adenocarcinoma no_association ISO RGD:733044 D RGD:9068941 20200609 RGD DNA:mutation:exons:no mutations found in mutation hotspots in exons 7, 10 or 15 PMID:11466624|REF_RGD_ID:2289868 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:3744 cervical squamous cell carcinoma no_association ISO RGD:733044 D RGD:9068941 20200813 RGD DNA:missense mutation:cds: p.S249G (human) PMID:11605053|REF_RGD_ID:38500202 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:3907 lung squamous cell carcinoma ISO RGD:733044 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:10073901|PMID:10471491|PMID:10696568|PMID:11038465|PMID:11241532|PMID:11529856|PMID:11879084|PMID:12833394|PMID:15772091|PMID:16841094|PMID:17384684|PMID:18642369|PMID:1908846|PMID:19381019|PMID:19749790|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8589699|PMID:8858131|PMID:9677066 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:3910 lung adenocarcinoma ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:10073901|PMID:10471491|PMID:10696568|PMID:11241532|PMID:11529856|PMID:12833394|PMID:15772091|PMID:16841094|PMID:18642369|PMID:1908846|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8858131|PMID:9677066 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:3965 Merkel cell carcinoma ISO RGD:733044 D RGD:9068941 20200813 RGD mRNA:decreased expression:skin (human) PMID:28359267|REF_RGD_ID:38500206 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:4006 bladder urothelial carcinoma severity ISO RGD:733044 D RGD:9068941 20200813 RGD protein:increased expression:urothelial cells (human) PMID:28507621|REF_RGD_ID:38500205 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:4007 bladder carcinoma ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Urinary bladder carcinoma PMID:10471491|PMID:11038465|PMID:11055896|PMID:11314002|PMID:11429702|PMID:11879084|PMID:12009017|PMID:15772091|PMID:15880580|PMID:16841094|PMID:16912704|PMID:17384684|PMID:18000903|PMID:19088846|PMID:19331127|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20453470|PMID:20542753|PMID:21273588|PMID:21510009|PMID:22869148|PMID:23200862|PMID:24419316|PMID:24476948|PMID:24863959|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28249712|PMID:28492532|PMID:29593476|PMID:30692697|PMID:31299979|PMID:7773297|PMID:8589699|PMID:8845844|PMID:9438390|PMID:9790257|PMID:9843049 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:4362 cervical cancer ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cancer of cervix | ClinVar Annotator: match by term: Cervical cancer PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10671061|PMID:10696568|PMID:10861678|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15772091|PMID:15915095|PMID:16841094|PMID:17384684|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:21510009|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28492532|PMID:32238909|PMID:7647778|PMID:7773297|PMID:8589699|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:4440 seminoma ISO RGD:733044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19855393 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:4465 papillary renal cell carcinoma ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:10471491|PMID:11038465|PMID:11429702|PMID:11879084|PMID:15772091|PMID:17384684|PMID:19088846|PMID:19331127|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20542753|PMID:21273588|PMID:22869148|PMID:23200862|PMID:24419316|PMID:24476948|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28249712|PMID:28492532|PMID:29593476|PMID:30692697|PMID:31299979|PMID:8589699|PMID:8845844|PMID:9438390|PMID:9843049 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:4480 achondroplasia ISO RGD:733044 D RGD:7240710 20180130 OMIM 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:4480 achondroplasia ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Achondroplasia | ClinVar Annotator: match by term: Skeleton skin brain syndrome PMID:10053006|PMID:10073901|PMID:10094188|PMID:10215410|PMID:10360392|PMID:10360393|PMID:10361991|PMID:10395236|PMID:10425034|PMID:10471491|PMID:10587515|PMID:10607835|PMID:10671061|PMID:10696568|PMID:10777366|PMID:10861678|PMID:10893668|PMID:10979354|PMID:11030304|PMID:11038465|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11754059|PMID:11879084|PMID:12707965|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15517832|PMID:15772091|PMID:15915095|PMID:16766665|PMID:16841094|PMID:16912704|PMID:17256796|PMID:17384684|PMID:17526800|PMID:17552943|PMID:17875876|PMID:17895900|PMID:18076102|PMID:18198189|PMID:18266238|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301331|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:20624921|PMID:21324899|PMID:21510009|PMID:21739570|PMID:22016144|PMID:22045636|PMID:22339077|PMID:22529939|PMID:22622662|PMID:22628360|PMID:23045425|PMID:23056398|PMID:23149434|PMID:23165795|PMID:23573386|PMID:23972473|PMID:24715719|PMID:24728327|PMID:25157968|PMID:25505835|PMID:25606676|PMID:25614871|PMID:25691418|PMID:25728633|PMID:25741868|PMID:25777271|PMID:25809207|PMID:26220993|PMID:26380986|PMID:26467025|PMID:26619011|PMID:26740388|PMID:26818779|PMID:26887047|PMID:26992226|PMID:28230213|PMID:28492532|PMID:28777845|PMID:29620724|PMID:29681095|PMID:30138938|PMID:30355600|PMID:30692697|PMID:31130284|PMID:31218223|PMID:31299979|PMID:31994750|PMID:32238909|PMID:32502767|PMID:33942288|PMID:4697848|PMID:7647778|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7758520|PMID:7773297|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589686|PMID:8589699|PMID:8599370|PMID:8673103|PMID:8723101|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9450868|PMID:9452043|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9672519|PMID:9677066|PMID:9842995|PMID:9843059|PMID:9857065|PMID:9950359 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:4480 achondroplasia severity ISO RGD:733044 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.K650M(human) PMID:10377013|REF_RGD_ID:11568054 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma PMID:10073901|PMID:10471491|PMID:10696568|PMID:11241532|PMID:11529856|PMID:12833394|PMID:15772091|PMID:16841094|PMID:18642369|PMID:1908846|PMID:19381019|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8589699|PMID:8858131|PMID:9677066 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:733044 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma PMID:10073901|PMID:10471491|PMID:10696568|PMID:11038465|PMID:11241532|PMID:11529856|PMID:11879084|PMID:12833394|PMID:15772091|PMID:16841094|PMID:17384684|PMID:18642369|PMID:1908846|PMID:19381019|PMID:19749790|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8589699|PMID:8858131|PMID:9677066 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:5557 testicular germ cell cancer ISO RGD:733044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis PMID:10053006|PMID:10094188|PMID:10425034|PMID:10671061|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:17875876|PMID:18076102|PMID:19088846|PMID:19215249|PMID:20301540|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25614871|PMID:25728633|PMID:25741868|PMID:26740388|PMID:26818779|PMID:28492532|PMID:32238909|PMID:7647778|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9857065|PMID:9950359 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:5834 spermatocytoma ISO RGD:733044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spermatocytic seminoma PMID:10471491|PMID:11055896|PMID:11241532|PMID:11429702|PMID:12624096|PMID:16752380|PMID:16912704|PMID:19088846|PMID:19855393|PMID:20301540|PMID:20453470|PMID:21510009|PMID:24075385|PMID:25741868|PMID:28492532|PMID:7773297|PMID:9207791|PMID:9677066 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:630 genetic disease ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10094188|PMID:10215410|PMID:10360392|PMID:10361991|PMID:10395236|PMID:10607835|PMID:10777366|PMID:10861678|PMID:10979354|PMID:11030304|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11424131|PMID:11426459|PMID:11746040|PMID:11754059|PMID:12707965|PMID:14613973|PMID:15241680|PMID:15517832|PMID:15915095|PMID:16766665|PMID:16841094|PMID:16912704|PMID:17552943|PMID:17935505|PMID:18198189|PMID:18266238|PMID:18976668|PMID:19088846|PMID:19165726|PMID:19215249|PMID:20199409|PMID:20301331|PMID:20301588|PMID:20301628|PMID:20624921|PMID:21324899|PMID:21536014|PMID:21739570|PMID:22016144|PMID:22045636|PMID:22622662|PMID:23045425|PMID:23056398|PMID:23149434|PMID:23165795|PMID:23437153|PMID:23972473|PMID:24715719|PMID:24728327|PMID:25326635|PMID:25614871|PMID:25691418|PMID:25741868|PMID:26220993|PMID:26380986|PMID:26467025|PMID:26740388|PMID:26893459|PMID:26992226|PMID:28230213|PMID:28492532|PMID:28777845|PMID:29681095|PMID:30138938|PMID:30692697|PMID:31218223|PMID:31299979|PMID:31994750|PMID:32238909|PMID:32502767|PMID:33942288|PMID:7493034|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589686|PMID:8673103|PMID:8723106|PMID:8841188|PMID:8880573|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9452043|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9672519|PMID:9843059|PMID:9857065|PMID:9950359 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:6498 seborrheic keratosis ISO RGD:733044 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratosis Seborrheica PMID:10073901|PMID:10471491|PMID:10696568|PMID:11038465|PMID:11241532|PMID:11529856|PMID:11879084|PMID:12833394|PMID:15772091|PMID:16841094|PMID:17384684|PMID:18642369|PMID:1908846|PMID:19381019|PMID:19749790|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8589699|PMID:8858131|PMID:9677066 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:65 connective tissue disease ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:10073901|PMID:10360392|PMID:10361991|PMID:10395236|PMID:10471491|PMID:10607835|PMID:10696568|PMID:10777366|PMID:10979354|PMID:11030304|PMID:11038465|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11241532|PMID:11529856|PMID:11754059|PMID:11879084|PMID:12707965|PMID:12833394|PMID:15517832|PMID:15772091|PMID:16766665|PMID:16841094|PMID:16912704|PMID:17384684|PMID:18198189|PMID:18252861|PMID:18266238|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19381019|PMID:19749790|PMID:20301331|PMID:20301540|PMID:20624921|PMID:21324899|PMID:21739570|PMID:22045636|PMID:23056398|PMID:23149434|PMID:23165795|PMID:24715719|PMID:24728327|PMID:25157968|PMID:25505835|PMID:25606676|PMID:25614871|PMID:25691418|PMID:25741868|PMID:25777271|PMID:26380986|PMID:26467025|PMID:26619011|PMID:26887047|PMID:28230213|PMID:28492532|PMID:28777845|PMID:29593476|PMID:29681095|PMID:30138938|PMID:30692697|PMID:31218223|PMID:31299979|PMID:31994750|PMID:32502767|PMID:33942288|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7773297|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589686|PMID:8589699|PMID:8673103|PMID:8858131|PMID:9279764|PMID:9452043|PMID:9672519|PMID:9677066 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:6536 plasma cell neoplasm ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:10073901|PMID:10471491|PMID:10696568|PMID:11241532|PMID:11529856|PMID:12833394|PMID:15772091|PMID:16841094|PMID:18642369|PMID:1908846|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8858131|PMID:9677066 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:674 cleft palate ISO RGD:733044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:687 hepatoblastoma ISO RGD:733044 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:769 neuroblastoma ISO RGD:733044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26822237 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:8552 chronic myeloid leukemia ISO RGD:733044 D RGD:9068941 20200806 RGD mRNA:increased expression:peripheral blood (human) PMID:14562121|REF_RGD_ID:36947884 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:8567 Hodgkin's lymphoma ISO RGD:733044 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Classic Hodgkin lymphoma PMID:28492532|PMID:32934698 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:8649 tongue cancer severity ISO RGD:733044 D RGD:9068941 20200806 RGD associated with human papillomavirus;protein:decreased expression:tumor cells PMID:30061236|REF_RGD_ID:36947883 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:9002331 Knee Osteoarthritis treatment ISO RGD:733045 D RGD:9068941 20200609 RGD PMID:27159076|REF_RGD_ID:11568056 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:9002835 LADD Syndrome 2 ISO RGD:733044 D RGD:7240710 20230125 OMIM 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:9002862 Craniosynostosis 3 ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Coronal craniosynostosis PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:733044 D RGD:7240710 20180130 OMIM 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:9003571 Paraproteinemias ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:10073901|PMID:10471491|PMID:10696568|PMID:11241532|PMID:11529856|PMID:12833394|PMID:15772091|PMID:16841094|PMID:18642369|PMID:1908846|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8858131|PMID:9677066 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:733044 D RGD:7240710 20180130 OMIM 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:733044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Male germ cell tumor, somatic | ClinVar Annotator: match by term: Testicular germ cell tumor PMID:10053006|PMID:10094188|PMID:10425034|PMID:10671061|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:17875876|PMID:18076102|PMID:19088846|PMID:19215249|PMID:20301540|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25614871|PMID:25728633|PMID:25741868|PMID:26740388|PMID:26818779|PMID:28492532|PMID:32238909|PMID:7647778|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9857065|PMID:9950359 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:733044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:733044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:9004806 Thanatophoric Dysplasia, Type II ISO RGD:733044 D RGD:7240710 20180130 OMIM 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:9004806 Thanatophoric Dysplasia, Type II ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Thanatophoric dysplasia with Kleeblattschaedel | ClinVar Annotator: match by term: Thanatophoric dysplasia, type 2 PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10671061|PMID:10696568|PMID:10861678|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11424131|PMID:11429702|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12624096|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15772091|PMID:15915095|PMID:16752380|PMID:16841094|PMID:16912704|PMID:17384684|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:19855393|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:21510009|PMID:22016144|PMID:22622662|PMID:24075385|PMID:24728327|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28492532|PMID:32238909|PMID:7647778|PMID:7773297|PMID:8589699|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:9006257 Growth Disorders ISO RGD:733044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth Retardation PMID:10073901|PMID:10471491|PMID:10696568|PMID:11241532|PMID:11529856|PMID:12833394|PMID:15772091|PMID:16841094|PMID:18642369|PMID:1908846|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8858131|PMID:9677066 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:9006534 Nervous System Malformations ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:9007253 Hamartoma ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hamartoma PMID:10073901|PMID:10471491|PMID:10696568|PMID:11241532|PMID:11529856|PMID:12833394|PMID:15772091|PMID:16841094|PMID:18642369|PMID:1908846|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8858131|PMID:9677066 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:9007661 Dwarfism ISO RGD:733044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:10073901|PMID:10360392|PMID:10361991|PMID:10395236|PMID:10471491|PMID:10696568|PMID:10777366|PMID:11055896|PMID:11241532|PMID:11529856|PMID:11754059|PMID:12707965|PMID:12833394|PMID:15772091|PMID:16841094|PMID:16912704|PMID:18198189|PMID:18642369|PMID:1908846|PMID:19088846|PMID:20301540|PMID:22045636|PMID:22903874|PMID:23149434|PMID:23165795|PMID:24411048|PMID:24715719|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26380986|PMID:26619011|PMID:28492532|PMID:29595812|PMID:7670477|PMID:7773297|PMID:8589686|PMID:8858131|PMID:9452043|PMID:9672519|PMID:9677066 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:10471491|PMID:11038465|PMID:11429702|PMID:11879084|PMID:15772091|PMID:17384684|PMID:19088846|PMID:19331127|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20542753|PMID:21273588|PMID:22869148|PMID:23200862|PMID:24419316|PMID:24476948|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28249712|PMID:28492532|PMID:29593476|PMID:30692697|PMID:31299979|PMID:8589699|PMID:8845844|PMID:9438390|PMID:9843049 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:9008086 Developmental Disabilities ISO RGD:733044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:9008166 Achondroplastic Dwarfism ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Achondroplastic dwarfism PMID:10053006|PMID:10073901|PMID:10094188|PMID:10215410|PMID:10360392|PMID:10360393|PMID:10425034|PMID:10471491|PMID:10671061|PMID:10696568|PMID:10777366|PMID:10861678|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12707965|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15772091|PMID:15915095|PMID:16841094|PMID:17384684|PMID:17526800|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:21510009|PMID:22016144|PMID:22622662|PMID:22628360|PMID:23045425|PMID:23165795|PMID:23573386|PMID:23972473|PMID:24728327|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26220993|PMID:26619011|PMID:26740388|PMID:26818779|PMID:26992226|PMID:28492532|PMID:29620724|PMID:30138938|PMID:30355600|PMID:31130284|PMID:32238909|PMID:4697848|PMID:7647778|PMID:7670477|PMID:7773297|PMID:8589686|PMID:8589699|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9450868|PMID:9452043|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9672519|PMID:9677066|PMID:9842995|PMID:9843059|PMID:9857065|PMID:9950359 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:10094188|PMID:10861678|PMID:11424131|PMID:11426459|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:17935505|PMID:18976668|PMID:19165726|PMID:19215249|PMID:20199409|PMID:20301588|PMID:20301628|PMID:21536014|PMID:22016144|PMID:22622662|PMID:23437153|PMID:24728327|PMID:25326635|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:7493034|PMID:8723106|PMID:8841188|PMID:8880573|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9857065|PMID:9950359 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733044 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:9008797 Facial Asymmetry ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Facial asymmetry PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:9008968 Thanatophoric Dysplasia, Type I ISO RGD:733044 D RGD:7240710 20180130 OMIM 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:9008968 Thanatophoric Dysplasia, Type I ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO TYPE PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10671061|PMID:10696568|PMID:10861678|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11424131|PMID:11429702|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12009017|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15772091|PMID:15915095|PMID:16841094|PMID:17384684|PMID:17509076|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19331127|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:20542753|PMID:21273588|PMID:21510009|PMID:22016144|PMID:22622662|PMID:22869148|PMID:23200862|PMID:24419316|PMID:24476948|PMID:24728327|PMID:24863959|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28249712|PMID:28492532|PMID:29593476|PMID:30692697|PMID:31299979|PMID:32238909|PMID:7647778|PMID:7773297|PMID:8589699|PMID:8723106|PMID:8841188|PMID:8845844|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9438390|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9790257|PMID:9843049|PMID:9843059|PMID:9857065|PMID:9950359 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:9009116 Urinary Bladder Neoplasm ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Urinary Bladder Neoplasms PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10671061|PMID:10696568|PMID:10861678|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15772091|PMID:15915095|PMID:16841094|PMID:17384684|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:21510009|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28492532|PMID:32238909|PMID:7647778|PMID:7773297|PMID:8589699|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:9256 colorectal cancer ISO RGD:733044 D RGD:7240710 20200226 OMIM 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:9256 colorectal cancer ISO RGD:733044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10053006|PMID:10094188|PMID:10425034|PMID:10671061|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:17875876|PMID:18076102|PMID:19088846|PMID:19215249|PMID:20301540|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25614871|PMID:25728633|PMID:25741868|PMID:26740388|PMID:26818779|PMID:28492532|PMID:32238909|PMID:7647778|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9857065|PMID:9950359 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:9296 cleft lip ISO RGD:733044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 11686252 FGFR3 fibroblast growth factor receptor 3 gene DOID:9538 multiple myeloma ISO RGD:733044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:10073901|PMID:10471491|PMID:10696568|PMID:11055896|PMID:11241532|PMID:11429702|PMID:11529856|PMID:12624096|PMID:12833394|PMID:15772091|PMID:16752380|PMID:16841094|PMID:16912704|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19855393|PMID:20301540|PMID:20453470|PMID:21510009|PMID:24075385|PMID:25157968|PMID:25606676|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8858131|PMID:9207791|PMID:9677066 11686289 ZNF862 zinc finger protein 862 gene DOID:0060466 gingival fibromatosis ISO RGD:2299992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gingival fibromatosis PMID:25741868 11686289 ZNF862 zinc finger protein 862 gene DOID:2843 long QT syndrome ISO RGD:2299992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11686289 ZNF862 zinc finger protein 862 gene DOID:630 genetic disease ISO RGD:2299992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11686311 KCNG4 potassium voltage-gated channel modifier subfamily G member 4 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1318394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 11686311 KCNG4 potassium voltage-gated channel modifier subfamily G member 4 gene DOID:630 genetic disease ISO RGD:1318394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11686318 CPT1B carnitine palmitoyltransferase 1B gene DOID:0060041 autism spectrum disorder ISO RGD:619557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 11686318 CPT1B carnitine palmitoyltransferase 1B gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:619557 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 11686318 CPT1B carnitine palmitoyltransferase 1B gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:619557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11686318 CPT1B carnitine palmitoyltransferase 1B gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:619557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 11686318 CPT1B carnitine palmitoyltransferase 1B gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:619557 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 11686318 CPT1B carnitine palmitoyltransferase 1B gene DOID:10581 metachromatic leukodystrophy ISO RGD:619557 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 11686318 CPT1B carnitine palmitoyltransferase 1B gene DOID:1059 intellectual disability ISO RGD:619557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11686318 CPT1B carnitine palmitoyltransferase 1B gene DOID:630 genetic disease ISO RGD:619557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11686318 CPT1B carnitine palmitoyltransferase 1B gene DOID:8986 narcolepsy ISO RGD:619557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18820697 11686318 CPT1B carnitine palmitoyltransferase 1B gene DOID:9002189 High Myopia ISO RGD:619557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11686318 CPT1B carnitine palmitoyltransferase 1B gene DOID:9003936 Cardiomegaly ISO RGD:619557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24330405 11686318 CPT1B carnitine palmitoyltransferase 1B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563825 11686318 CPT1B carnitine palmitoyltransferase 1B gene DOID:9007102 Myocardial Ischemia ISO RGD:619557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11686318 CPT1B carnitine palmitoyltransferase 1B gene DOID:9007188 Liver Neoplasms ISO RGD:619557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:0060368 Parkinson's disease 2 ISO RGD:730938 D RGD:7240710 20180502 OMIM 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:0060368 Parkinson's disease 2 ISO RGD:730938 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 | ClinVar Annotator: match by term: Parkinsonism, early onset, with diurnal fluctuation | ClinVar Annotator: match by term: Young-onset Parkinson disease PMID:10072423|PMID:10319889|PMID:10824074|PMID:10894217|PMID:10939576|PMID:10983716|PMID:11009195|PMID:11163284|PMID:11179010|PMID:11222808|PMID:11402119|PMID:11405814|PMID:11487568|PMID:11558785|PMID:11889248|PMID:11971093|PMID:12056932|PMID:12114481|PMID:12116199|PMID:12397156|PMID:12629236|PMID:12707451|PMID:12707457|PMID:12730996|PMID:12764050|PMID:12764051|PMID:12781588|PMID:12891670|PMID:12975291|PMID:14519684|PMID:14639672|PMID:15090472|PMID:15193026|PMID:15197707|PMID:15254940|PMID:15266615|PMID:15390068|PMID:15606901|PMID:15729528|PMID:15816865|PMID:15823482|PMID:15970950|PMID:16049031|PMID:16086186|PMID:16130111|PMID:16227559|PMID:16269266|PMID:16328510|PMID:16339143|PMID:16367892|PMID:16476817|PMID:16500134|PMID:16606767|PMID:16714300|PMID:16769863|PMID:16793319|PMID:17095157|PMID:17187375|PMID:17415800|PMID:17766365|PMID:17914726|PMID:18211709|PMID:18413468|PMID:18485927|PMID:18486522|PMID:18514563|PMID:18519021|PMID:18685134|PMID:18785233|PMID:18927607|PMID:18951541|PMID:18973255|PMID:19006224|PMID:19087301|PMID:19162522|PMID:19205068|PMID:19351622|PMID:19405094|PMID:19636047|PMID:19715670|PMID:19801972|PMID:19891003|PMID:19922375|PMID:19946270|PMID:20301651|PMID:20399249|PMID:20404107|PMID:20457763|PMID:20558392|PMID:20604804|PMID:20643691|PMID:20798600|PMID:21215313|PMID:21322020|PMID:21348451|PMID:21534944|PMID:21625934|PMID:21681106|PMID:21694720|PMID:21993715|PMID:21996382|PMID:22118943|PMID:22233331|PMID:22243833|PMID:22302706|PMID:22523156|PMID:22555654|PMID:22766139|PMID:22777964|PMID:22956510|PMID:22995991|PMID:23275044|PMID:23531835|PMID:23727886|PMID:23751051|PMID:23818421|PMID:23835509|PMID:23880019|PMID:23986421|PMID:24033266|PMID:24082139|PMID:24167364|PMID:24375549|PMID:24647965|PMID:24677602|PMID:24816432|PMID:24831986|PMID:25174650|PMID:25238391|PMID:25284222|PMID:25558820|PMID:25591737|PMID:25640679|PMID:25741868|PMID:25815004|PMID:25833766|PMID:25877876|PMID:25907632|PMID:25939424|PMID:26116755|PMID:26161729|PMID:26188007|PMID:26274610|PMID:26467025|PMID:26556299|PMID:26683220|PMID:26764160|PMID:26830385|PMID:26836416|PMID:26855076|PMID:27094865|PMID:27182553|PMID:27206984|PMID:27294386|PMID:27776828|PMID:28492532|PMID:28862745|PMID:29353703|PMID:29530980|PMID:29606608|PMID:29910155|PMID:29967542|PMID:30099245|PMID:30200940|PMID:30502028|PMID:30537300|PMID:30609409|PMID:30994895|PMID:31147223|PMID:31182772|PMID:31217084|PMID:31324919|PMID:31409571|PMID:31429726|PMID:31660654|PMID:31695088|PMID:31929871|PMID:32214227|PMID:32870915|PMID:32970363|PMID:33045815|PMID:33150996|PMID:33166806|PMID:33845304|PMID:34426522|PMID:7565830|PMID:9560156|PMID:9634531|PMID:9731209|PMID:9802278|PMID:9851438 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:0080855 Parkinsonism ISO RGD:730938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Juvenile parkinsonism | ClinVar Annotator: match by term: Parkinson Disease, Juvenile PMID:10072423|PMID:11971093|PMID:12116199|PMID:12629236|PMID:12730996|PMID:12764050|PMID:14519684|PMID:15823482|PMID:16049031|PMID:16227559|PMID:16367892|PMID:16476817|PMID:16714300|PMID:17766365|PMID:18211709|PMID:18519021|PMID:18973255|PMID:19205068|PMID:19405094|PMID:19636047|PMID:23275044|PMID:24167364|PMID:25591737|PMID:25741868|PMID:25877876|PMID:25939424|PMID:26274610|PMID:26467025|PMID:26556299|PMID:28492532|PMID:28862745|PMID:30200940|PMID:30994895|PMID:31409571|PMID:32870915|PMID:33045815|PMID:34426522 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:730938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:1024 leprosy ISO RGD:730938 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 2 PMID:10072423|PMID:11558785|PMID:11889248|PMID:12730996|PMID:12891670|PMID:14519684|PMID:15390068|PMID:15970950|PMID:16049031|PMID:16714300|PMID:17766365|PMID:19162522|PMID:19636047|PMID:19801972|PMID:20457763|PMID:20798600|PMID:22118943|PMID:22555654|PMID:23531835|PMID:24033266|PMID:24082139|PMID:24647965|PMID:24831986|PMID:25591737|PMID:25741868|PMID:25815004|PMID:25907632|PMID:25939424|PMID:26188007|PMID:26467025|PMID:26683220|PMID:26764160|PMID:26836416|PMID:26855076|PMID:27182553|PMID:27294386|PMID:28492532|PMID:29353703|PMID:30200940|PMID:30537300|PMID:30609409|PMID:30994895|PMID:31409571|PMID:32970363|PMID:33045815|PMID:33845304 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:10652 Alzheimer's disease ISO RGD:730938 D RGD:9068941 20200609 RGD protein:increased expression:vessel,astrocyte: PMID:19716418|REF_RGD_ID:10412736 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:10652 Alzheimer's disease treatment ISO RGD:62089 D RGD:9068941 20200609 RGD PMID:24105468|REF_RGD_ID:10412735 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:12217 Lewy body dementia ISO RGD:730938 D RGD:9068941 20200609 RGD PMID:17467279|REF_RGD_ID:10412737 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:12849 autistic disorder ISO RGD:730938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:12858 Huntington's disease ISO RGD:62089 D RGD:9068941 20200609 RGD PMID:19464273|REF_RGD_ID:10412729 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:1324 lung cancer ISO RGD:730938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:25741868|PMID:25939424|PMID:28492532|PMID:28862745 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:13548 secondary Parkinson disease ISO RGD:730938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15993444 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease ISO RGD:62089 D RGD:9068941 20200609 RGD PMID:28695462|REF_RGD_ID:13432207 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease ISO RGD:730938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12588799|PMID:15198987|PMID:15882845|PMID:16573651|PMID:17010972|PMID:19946270|PMID:22043175|PMID:22841634|PMID:23628791|PMID:24582596|PMID:25149416|PMID:25631236|PMID:28284907 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease ISO RGD:730938 D RGD:9068941 20200609 RGD PMID:25639775|PMID:26223426|REF_RGD_ID:10450518|REF_RGD_ID:10450521 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease ISO RGD:730938 D RGD:9068941 20200609 RGD DNA:deletions:exons: (human) PMID:9560156|REF_RGD_ID:9693725 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease ISO RGD:730938 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:12629236|REF_RGD_ID:737763 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease ISO RGD:730938 D RGD:9068941 20200609 RGD protein:increased tyrosine-phosphorylation:substantia nigra, striatum, PMID:20823226|REF_RGD_ID:8693409 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease treatment ISO RGD:61797 D RGD:9068941 20200609 RGD PMID:28526446|REF_RGD_ID:13432567 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease treatment ISO RGD:62089 D RGD:9068941 20200609 RGD PMID:28583715|REF_RGD_ID:13432563 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease treatment ISO RGD:730938 D RGD:9068941 20200609 RGD PMID:16914382|REF_RGD_ID:10413859 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:1561 cognitive disorder treatment ISO RGD:62089 D RGD:9068941 20200609 RGD PMID:28532818|REF_RGD_ID:13432566 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:224 transient cerebral ischemia ISO RGD:62089 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex, striatum: PMID:12415119|REF_RGD_ID:10413862 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:2377 multiple sclerosis ISO RGD:730938 D RGD:9068941 20200609 RGD protein:increased expression:white matter,astrocyte: PMID:19716418|REF_RGD_ID:10412736 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:2394 ovarian cancer ISO RGD:730938 D RGD:7240710 20190213 OMIM 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:3068 glioblastoma ISO RGD:730938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19946270 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:3910 lung adenocarcinoma ISO RGD:730938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:12719539 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:4362 cervical cancer disease_progression ISO RGD:730938 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix (human) PMID:28631565|REF_RGD_ID:13432557 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:5119 ovarian cyst ISO RGD:730938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:5419 schizophrenia ISO RGD:730938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:684 hepatocellular carcinoma severity ISO RGD:62089 D RGD:9068941 20200609 RGD protein:decreased expression:liver (human) PMID:28862485|REF_RGD_ID:13432206 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:8927 learning disability ISO RGD:730938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12915482 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:9000304 Manganese Poisoning ISO RGD:730938 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20089134 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:61797 D RGD:9068941 20200609 RGD PMID:28546552|REF_RGD_ID:13432565 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:62089 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:28663335|REF_RGD_ID:13432209 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:61797 D RGD:9068941 20200609 RGD PMID:26882442|REF_RGD_ID:12910839 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:9002762 Ovarian Neoplasms ISO RGD:730938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:10072423|PMID:11558785|PMID:11889248|PMID:11971093|PMID:12116199|PMID:12629236|PMID:12719539|PMID:12730996|PMID:12764050|PMID:12891670|PMID:14519684|PMID:15390068|PMID:15823482|PMID:15970950|PMID:16049031|PMID:16227559|PMID:16367892|PMID:16476817|PMID:16714300|PMID:17766365|PMID:18211709|PMID:18519021|PMID:18973255|PMID:19162522|PMID:19205068|PMID:19405094|PMID:19636047|PMID:19801972|PMID:20457763|PMID:20798600|PMID:22118943|PMID:22555654|PMID:23275044|PMID:23531835|PMID:24033266|PMID:24082139|PMID:24167364|PMID:24831986|PMID:25591737|PMID:25741868|PMID:25815004|PMID:25877876|PMID:25907632|PMID:25939424|PMID:26188007|PMID:26274610|PMID:26467025|PMID:26764160|PMID:26836416|PMID:26855076|PMID:27182553|PMID:27294386|PMID:28492532 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:9002762 Ovarian Neoplasms ISO RGD:730938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:10072423|PMID:11971093|PMID:12116199|PMID:12629236|PMID:12719539|PMID:12730996|PMID:12764050|PMID:14519684|PMID:15823482|PMID:16049031|PMID:16227559|PMID:16367892|PMID:16476817|PMID:16714300|PMID:17766365|PMID:18211709|PMID:18519021|PMID:18973255|PMID:19205068|PMID:19405094|PMID:19636047|PMID:23275044|PMID:24167364|PMID:25591737|PMID:25741868|PMID:25877876|PMID:25939424|PMID:26274610|PMID:26467025|PMID:26556299|PMID:28492532|PMID:28862745|PMID:30200940|PMID:30994895|PMID:31409571|PMID:32870915|PMID:33045815|PMID:34426522 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:9002928 Colonic Neoplasms ISO RGD:730938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19946270 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:9002955 Nerve Degeneration ISO RGD:730938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17687034 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:62089 D RGD:9068941 20200609 RGD PMID:28522833|REF_RGD_ID:13432569 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:9005172 Lung Neoplasms ISO RGD:730938 D RGD:7240710 20180130 OMIM 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:9005930 Endotoxemia ISO RGD:62089 D RGD:9068941 20200609 RGD protein:increased expression:liver, mitochondrion (mouse) PMID:28615325|REF_RGD_ID:13432559 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:9006205 Animal Disease Models ISO RGD:730938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15882845 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:9008023 Memory Disorders ISO RGD:730938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12915482 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:9255 frontotemporal dementia disease_progression ISO RGD:62089 D RGD:9068941 20200609 RGD PMID:18817929|REF_RGD_ID:10412726 11686371 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:9352 type 2 diabetes mellitus ISO RGD:61797 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (rat) PMID:28573460|REF_RGD_ID:13432564 11686387 LOC100980841 protein diaphanous homolog 1 gene DOID:0060744 Pendred syndrome ISO RGD:1321771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:30311386 11686387 LOC100980841 protein diaphanous homolog 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1321771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11686387 LOC100980841 protein diaphanous homolog 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321771 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11686387 LOC100980841 protein diaphanous homolog 1 gene DOID:0110541 autosomal dominant nonsyndromic deafness 1 ISO RGD:1321771 D RGD:7240710 20180130 OMIM 11686387 LOC100980841 protein diaphanous homolog 1 gene DOID:0110541 autosomal dominant nonsyndromic deafness 1 ISO RGD:1321771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA | ClinVar Annotator: match by term: Deafness, autosomal dominant 1 | ClinVar Annotator: match by term: KONIGSMARK SYNDROME PMID:16199547|PMID:17576681|PMID:22938506|PMID:23804846|PMID:24033266|PMID:24781755|PMID:25342930|PMID:25741868|PMID:26011067|PMID:26463574|PMID:26467025|PMID:26912466|PMID:27707755|PMID:27808407|PMID:27911912|PMID:28492532|PMID:28815995|PMID:28983057|PMID:30311386|PMID:30896630|PMID:32678080|PMID:35307828|PMID:9360932|PMID:9536098 11686387 LOC100980841 protein diaphanous homolog 1 gene DOID:10003 sensorineural hearing loss susceptibility ISO RGD:1321771 D RGD:9068941 20200609 RGD autosomal dominant nonsyndromic sensorineural deafness 1, OMIM:124900;DNA:splice-site mutation PMID:9360932|REF_RGD_ID:1601058 11686387 LOC100980841 protein diaphanous homolog 1 gene DOID:10907 microcephaly ISO RGD:1321771 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24781755|PMID:25558065|PMID:25741868|PMID:28492532 11686387 LOC100980841 protein diaphanous homolog 1 gene DOID:14264 benign neonatal seizures ISO RGD:1321771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal seizure 11686387 LOC100980841 protein diaphanous homolog 1 gene DOID:1826 epilepsy ISO RGD:1321771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure Disorders PMID:24781755|PMID:25558065 11686387 LOC100980841 protein diaphanous homolog 1 gene DOID:3633 beta-mannosidosis ISO RGD:1321771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:28492532|PMID:30311386 11686387 LOC100980841 protein diaphanous homolog 1 gene DOID:630 genetic disease ISO RGD:1321771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22938506|PMID:24033266|PMID:28492532 11686387 LOC100980841 protein diaphanous homolog 1 gene DOID:8725 vascular dementia ISO RGD:1321771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:28492532|PMID:35307828 11686387 LOC100980841 protein diaphanous homolog 1 gene DOID:9001276 Failure to Thrive ISO RGD:1321771 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:24781755|PMID:25558065 11686387 LOC100980841 protein diaphanous homolog 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11686387 LOC100980841 protein diaphanous homolog 1 gene DOID:9004538 Hearing Loss ISO RGD:1321771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:32581362 11686387 LOC100980841 protein diaphanous homolog 1 gene DOID:9005489 Seizures, Cortical Blindness, and Microcephaly Syndrome ISO RGD:1321771 D RGD:7240710 20180130 OMIM 11686387 LOC100980841 protein diaphanous homolog 1 gene DOID:9005489 Seizures, Cortical Blindness, and Microcephaly Syndrome ISO RGD:1321771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome PMID:16199547|PMID:17576681|PMID:22938506|PMID:23804846|PMID:24033266|PMID:24781755|PMID:25342930|PMID:25558065|PMID:25741868|PMID:26011067|PMID:26463574|PMID:26467025|PMID:26912466|PMID:27707755|PMID:27808407|PMID:27911912|PMID:28492532|PMID:28815995|PMID:28983057|PMID:30311386|PMID:30896630|PMID:32678080|PMID:35307828|PMID:9360932|PMID:9536098 11686387 LOC100980841 protein diaphanous homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321771 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11686387 LOC100980841 protein diaphanous homolog 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1321771 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24781755|PMID:25558065 11686421 CPLX1 complexin 1 gene DOID:0050460 Wolf-Hirschhorn syndrome ISO RGD:735999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11686421 CPLX1 complexin 1 gene DOID:0080426 developmental and epileptic encephalopathy 63 ISO RGD:735999 D RGD:7240710 20190315 OMIM 11686421 CPLX1 complexin 1 gene DOID:0080426 developmental and epileptic encephalopathy 63 ISO RGD:735999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 63 PMID:25741868|PMID:26539891|PMID:28422131|PMID:28492532 11686421 CPLX1 complexin 1 gene DOID:0110604 primary ciliary dyskinesia 18 ISO RGD:735999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 18 PMID:25741868 11686421 CPLX1 complexin 1 gene DOID:11832 visual epilepsy ISO RGD:733328 D RGD:9068941 20200609 RGD PMID:11163241|REF_RGD_ID:734813 11686421 CPLX1 complexin 1 gene DOID:1856 cherubism ISO RGD:735999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11686421 CPLX1 complexin 1 gene DOID:2468 psychotic disorder ISO RGD:735999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 11686421 CPLX1 complexin 1 gene DOID:3312 bipolar disorder ISO RGD:735999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 11686421 CPLX1 complexin 1 gene DOID:5419 schizophrenia ISO RGD:735999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 11686421 CPLX1 complexin 1 gene DOID:630 genetic disease ISO RGD:735999 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11686421 CPLX1 complexin 1 gene DOID:9000495 Tremor ISO RGD:70944 D RGD:9068941 20210702 RGD PMID:31875236|REF_RGD_ID:127285808 11686421 CPLX1 complexin 1 gene DOID:9004866 Ataxia ISO RGD:70944 D RGD:9068941 20210702 RGD PMID:31875236|REF_RGD_ID:127285808 11686421 CPLX1 complexin 1 gene DOID:9004866 Ataxia ISO RGD:733328 D RGD:9068941 20200609 RGD PMID:11163241|REF_RGD_ID:734813 11686421 CPLX1 complexin 1 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:735999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 11686428 LOC100983286 olfactory receptor 2AT4 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1348041 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11686428 LOC100983286 olfactory receptor 2AT4 gene DOID:1059 intellectual disability ISO RGD:1348041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11686428 LOC100983286 olfactory receptor 2AT4 gene DOID:630 genetic disease ISO RGD:1348041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11686431 AGBL5 AGBL carboxypeptidase 5 gene DOID:0110361 retinitis pigmentosa 75 ISO RGD:1605057 D RGD:7240710 20190315 OMIM 11686431 AGBL5 AGBL carboxypeptidase 5 gene DOID:0110361 retinitis pigmentosa 75 ISO RGD:1605057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 75 PMID:25741868|PMID:26355662|PMID:26720455|PMID:28492532 11686431 AGBL5 AGBL carboxypeptidase 5 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1605057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11686431 AGBL5 AGBL carboxypeptidase 5 gene DOID:10584 retinitis pigmentosa ISO RGD:1605057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:31725702 11686431 AGBL5 AGBL carboxypeptidase 5 gene DOID:630 genetic disease ISO RGD:1605057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11686431 AGBL5 AGBL carboxypeptidase 5 gene DOID:8501 fundus dystrophy ISO RGD:1605057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 11686505 ATG12 autophagy related 12 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314851 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11686505 ATG12 autophagy related 12 gene DOID:12849 autistic disorder ISO RGD:1314851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11686505 ATG12 autophagy related 12 gene DOID:630 genetic disease ISO RGD:1314851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11686505 ATG12 autophagy related 12 gene DOID:9000998 Brain Injuries ISO RGD:1306306 D RGD:9068941 20200609 RGD protein:altered localization:brain PMID:18059433|REF_RGD_ID:2301217 11686505 ATG12 autophagy related 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11686505 ATG12 autophagy related 12 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314851 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11686513 GLRX5 glutaredoxin 5 gene DOID:0060065 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 ISO RGD:1318119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11686513 GLRX5 glutaredoxin 5 gene DOID:0080343 autosomal recessive pyridoxine-refractory sideroblastic anemia 3 ISO RGD:1318119 D RGD:7240710 20190315 OMIM 11686513 GLRX5 glutaredoxin 5 gene DOID:0080343 autosomal recessive pyridoxine-refractory sideroblastic anemia 3 ISO RGD:1318119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sideroblastic anemia 3 PMID:17485548|PMID:20364084|PMID:25342667|PMID:25741868|PMID:26100117|PMID:30660387 11686513 GLRX5 glutaredoxin 5 gene DOID:630 genetic disease ISO RGD:1318119 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11686513 GLRX5 glutaredoxin 5 gene DOID:8955 sideroblastic anemia ISO RGD:1318119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18637800 11686513 GLRX5 glutaredoxin 5 gene DOID:9001337 Childhood-Onset Spasticity with Hyperglycinemia ISO RGD:1318119 D RGD:7240710 20190315 OMIM 11686513 GLRX5 glutaredoxin 5 gene DOID:9001337 Childhood-Onset Spasticity with Hyperglycinemia ISO RGD:1318119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spasticity, childhood-onset, with hyperglycinemia PMID:24334290|PMID:25741868|PMID:28492532 11686518 DGKI diacylglycerol kinase iota gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11686518 DGKI diacylglycerol kinase iota gene DOID:630 genetic disease ISO RGD:1343674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11686553 ASPSCR1 ASPSCR1 tether for SLC2A4, UBX domain containing gene DOID:4239 alveolar soft part sarcoma ISO RGD:1344232 D RGD:7240710 20180130 OMIM 11686553 ASPSCR1 ASPSCR1 tether for SLC2A4, UBX domain containing gene DOID:630 genetic disease ISO RGD:1344232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11686576 IFI27L2 interferon alpha inducible protein 27 like 2 gene DOID:0080054 achondrogenesis type IA ISO RGD:1344421 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11686576 IFI27L2 interferon alpha inducible protein 27 like 2 gene DOID:0080600 COVID-19 ISO RGD:1344421 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11686576 IFI27L2 interferon alpha inducible protein 27 like 2 gene DOID:0081063 DICER1 syndrome ISO RGD:1344421 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 11686576 IFI27L2 interferon alpha inducible protein 27 like 2 gene DOID:630 genetic disease ISO RGD:1344421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11686584 FCRL3 Fc receptor like 3 gene DOID:12361 Graves' disease ISO RGD:1604549 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21841780 11686584 FCRL3 Fc receptor like 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1604549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11686584 FCRL3 Fc receptor like 3 gene DOID:630 genetic disease ISO RGD:1604549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11686584 FCRL3 Fc receptor like 3 gene DOID:7188 autoimmune thyroiditis ISO RGD:1604549 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17952073 11686584 FCRL3 Fc receptor like 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11686613 METTL9 methyltransferase 9, His-X-His N1-histidine gene DOID:0080600 COVID-19 ISO RGD:1602890 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11686613 METTL9 methyltransferase 9, His-X-His N1-histidine gene DOID:0110480 autosomal recessive nonsyndromic deafness 22 ISO RGD:1602890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 22 PMID:25741868|PMID:33492714 11686613 METTL9 methyltransferase 9, His-X-His N1-histidine gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1602890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 9 PMID:25741868 11686613 METTL9 methyltransferase 9, His-X-His N1-histidine gene DOID:630 genetic disease ISO RGD:1602890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11686622 GPM6B glycoprotein M6B gene DOID:12849 autistic disorder ISO RGD:1349867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11686622 GPM6B glycoprotein M6B gene DOID:630 genetic disease ISO RGD:1349867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11686622 GPM6B glycoprotein M6B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11686639 TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1606198 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 11686639 TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 gene DOID:14701 propionic acidemia ISO RGD:1606198 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 11686639 TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 gene DOID:4621 holoprosencephaly ISO RGD:1606198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 11686639 TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 gene DOID:630 genetic disease ISO RGD:1606198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11686639 TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1606198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11686639 TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 gene DOID:9007853 Worster-Drought Syndrome ISO RGD:1606198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Worster-Drought syndrome PMID:24375697 11686667 RNF208 ring finger protein 208 gene DOID:0050777 Joubert syndrome ISO RGD:1603720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11686667 RNF208 ring finger protein 208 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1603720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 11686667 RNF208 ring finger protein 208 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1603720 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 11686667 RNF208 ring finger protein 208 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1603720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11686667 RNF208 ring finger protein 208 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1603720 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11686667 RNF208 ring finger protein 208 gene DOID:0081097 Rafiq syndrome ISO RGD:1603720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11686667 RNF208 ring finger protein 208 gene DOID:1826 epilepsy ISO RGD:1603720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11686667 RNF208 ring finger protein 208 gene DOID:630 genetic disease ISO RGD:1603720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11686667 RNF208 ring finger protein 208 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1603720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11686672 PARP11 poly(ADP-ribose) polymerase family member 11 gene DOID:630 genetic disease ISO RGD:1344916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11686672 PARP11 poly(ADP-ribose) polymerase family member 11 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1344916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11686698 RELL1 RELT like 1 gene DOID:630 genetic disease ISO RGD:1625842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11686698 RELL1 RELT like 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1625842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11686709 MARF1 meiosis regulator and mRNA stability factor 1 gene DOID:12849 autistic disorder ISO RGD:1605711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11686709 MARF1 meiosis regulator and mRNA stability factor 1 gene DOID:1826 epilepsy ISO RGD:1605711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11686709 MARF1 meiosis regulator and mRNA stability factor 1 gene DOID:5419 schizophrenia ISO RGD:1605711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11686709 MARF1 meiosis regulator and mRNA stability factor 1 gene DOID:630 genetic disease ISO RGD:1605711 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11686709 MARF1 meiosis regulator and mRNA stability factor 1 gene DOID:8445 intestinal volvulus ISO RGD:1605711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11686709 MARF1 meiosis regulator and mRNA stability factor 1 gene DOID:9000664 Familial Thoracic Aortic Aneurysm 4 ISO RGD:1605711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:22318994|PMID:27884122|PMID:28492532|PMID:29179725 11686709 MARF1 meiosis regulator and mRNA stability factor 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1605711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11686753 SNX29 sorting nexin 29 gene DOID:5419 schizophrenia ISO RGD:1604256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11686753 SNX29 sorting nexin 29 gene DOID:630 genetic disease ISO RGD:1604256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11686775 ING5 inhibitor of growth family member 5 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1317373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11686775 ING5 inhibitor of growth family member 5 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1317373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11686775 ING5 inhibitor of growth family member 5 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1317373 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11686775 ING5 inhibitor of growth family member 5 gene DOID:1059 intellectual disability ISO RGD:1317373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11686775 ING5 inhibitor of growth family member 5 gene DOID:630 genetic disease ISO RGD:1317373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11686775 ING5 inhibitor of growth family member 5 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1317373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11686794 PRCP prolylcarboxypeptidase gene DOID:1059 intellectual disability ISO RGD:1317272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11686794 PRCP prolylcarboxypeptidase gene DOID:630 genetic disease ISO RGD:1317272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11686813 NPFFR2 neuropeptide FF receptor 2 gene DOID:630 genetic disease ISO RGD:733261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11686813 NPFFR2 neuropeptide FF receptor 2 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:733261 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11686889 UBE2L6 ubiquitin conjugating enzyme E2 L6 gene DOID:1059 intellectual disability ISO RGD:1317456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11686889 UBE2L6 ubiquitin conjugating enzyme E2 L6 gene DOID:630 genetic disease ISO RGD:1317456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11686889 UBE2L6 ubiquitin conjugating enzyme E2 L6 gene DOID:9001488 Human Influenza ISO RGD:1317456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11686900 ZNF512 zinc finger protein 512 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1349628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11686900 ZNF512 zinc finger protein 512 gene DOID:630 genetic disease ISO RGD:1349628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11686931 WWC1 WW and C2 domain containing 1 gene DOID:0111951 immunodeficiency 40 ISO RGD:1601880 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:26083206|PMID:28492532 11686931 WWC1 WW and C2 domain containing 1 gene DOID:1790 malignant mesothelioma ISO RGD:1601880 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 11686931 WWC1 WW and C2 domain containing 1 gene DOID:630 genetic disease ISO RGD:1601880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11686968 LOC100971374 thioredoxin-interacting protein gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:732141 D RGD:9068941 20200609 RGD PMID:29482933|REF_RGD_ID:15090806 11686968 LOC100971374 thioredoxin-interacting protein gene DOID:10534 stomach cancer ISO RGD:620886 D RGD:9068941 20200609 RGD mRNA:decreased expression:stomach PMID:12553030|REF_RGD_ID:1642760 11686968 LOC100971374 thioredoxin-interacting protein gene DOID:14525 Reye syndrome ISO RGD:732141 D RGD:9068941 20220825 MouseDO 11686968 LOC100971374 thioredoxin-interacting protein gene DOID:1686 glaucoma ISO RGD:620886 D RGD:9068941 20200609 RGD protein:increased expression:retinal ganglion cell PMID:18701913|REF_RGD_ID:2306193 11686968 LOC100971374 thioredoxin-interacting protein gene DOID:2018 hyperinsulinism susceptibility ISO RGD:732141 D RGD:9068941 20200609 RGD DNA:nonsense mutation PMID:15047687|REF_RGD_ID:1642753 11686968 LOC100971374 thioredoxin-interacting protein gene DOID:4450 renal cell carcinoma ISO RGD:620886 D RGD:9068941 20200609 RGD DNA, mRNA, protein:hypermethylation, decreased expression:promoter, kidney PMID:15834431|REF_RGD_ID:1642756 11686968 LOC100971374 thioredoxin-interacting protein gene DOID:684 hepatocellular carcinoma ISO RGD:732141 D RGD:9068941 20220825 MouseDO OMIM:114550 11686968 LOC100971374 thioredoxin-interacting protein gene DOID:9005233 Experimental Mammary Neoplasms severity ISO RGD:620886 D RGD:9068941 20200609 RGD mRNA:decreased expression:mammary gland PMID:15170812|REF_RGD_ID:1642758 11686968 LOC100971374 thioredoxin-interacting protein gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620886 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17675577|REF_RGD_ID:1642749 11686968 LOC100971374 thioredoxin-interacting protein gene DOID:9007102 Myocardial Ischemia ISO RGD:620886 D RGD:9068941 20200609 RGD PMID:16172122|REF_RGD_ID:1580789 11686968 LOC100971374 thioredoxin-interacting protein gene DOID:9256 colorectal cancer disease_progression ISO RGD:620886 D RGD:9068941 20200609 RGD mRNA:decreased expression:stomach PMID:12553030|REF_RGD_ID:1642760 11686975 PRM1 protamine 1 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1350304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 11686975 PRM1 protamine 1 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1350304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 11686975 PRM1 protamine 1 gene DOID:5812 MHC class II deficiency ISO RGD:1350304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11686975 PRM1 protamine 1 gene DOID:630 genetic disease ISO RGD:1350304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11686992 TMEM115 transmembrane protein 115 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532|PMID:30410802 11686992 TMEM115 transmembrane protein 115 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532|PMID:30410802 11686992 TMEM115 transmembrane protein 115 gene DOID:630 genetic disease ISO RGD:1605401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11686992 TMEM115 transmembrane protein 115 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11686998 AATK apoptosis associated tyrosine kinase gene DOID:630 genetic disease ISO RGD:1317702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11687034 PTPRE protein tyrosine phosphatase receptor type E gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1346203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11687034 PTPRE protein tyrosine phosphatase receptor type E gene DOID:630 genetic disease ISO RGD:1346203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11687074 LRRC32 leucine rich repeat containing 32 gene DOID:1059 intellectual disability ISO RGD:1319230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11687074 LRRC32 leucine rich repeat containing 32 gene DOID:630 genetic disease ISO RGD:1319230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11687074 LRRC32 leucine rich repeat containing 32 gene DOID:9000539 Cleft Palate, Proliferative Retinopathy, and Developmental Delay ISO RGD:1319230 D RGD:7240710 20201111 OMIM 11687074 LRRC32 leucine rich repeat containing 32 gene DOID:9000539 Cleft Palate, Proliferative Retinopathy, and Developmental Delay ISO RGD:1319230 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cleft palate, proliferative retinopathy, and developmental delay PMID:25741868|PMID:30976112 11687074 LRRC32 leucine rich repeat containing 32 gene DOID:9008086 Developmental Disabilities ISO RGD:1319230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:30976112 11687089 DDX39B DExD-box helicase 39B gene DOID:0050553 JMP syndrome ISO RGD:737407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11687089 DDX39B DExD-box helicase 39B gene DOID:11372 megacolon ISO RGD:737407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11687089 DDX39B DExD-box helicase 39B gene DOID:630 genetic disease ISO RGD:737407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11687089 DDX39B DExD-box helicase 39B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737407 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11687089 DDX39B DExD-box helicase 39B gene DOID:9744 type 1 diabetes mellitus ISO RGD:737407 D RGD:9068941 20200609 RGD PMID:11756005|REF_RGD_ID:13702905 11687116 RUFY1 RUN and FYVE domain containing 1 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:1312929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 11687116 RUFY1 RUN and FYVE domain containing 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1312929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11687116 RUFY1 RUN and FYVE domain containing 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1312929 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11687116 RUFY1 RUN and FYVE domain containing 1 gene DOID:630 genetic disease ISO RGD:1312929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11687139 ERGIC2 ERGIC and golgi 2 gene DOID:630 genetic disease ISO RGD:1605678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11687161 LOC100979736 PC4 and SFRS1-interacting protein gene DOID:630 genetic disease ISO RGD:1350264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11687161 LOC100979736 PC4 and SFRS1-interacting protein gene DOID:9119 acute myeloid leukemia ISO RGD:1350264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:0050328 congenital hypothyroidism ISO RGD:2206 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:skull, serum PMID:7920889|REF_RGD_ID:6483557 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:0050445 X-linked dominant hypophosphatemic rickets ISO RGD:1621634 D RGD:9068941 20200609 RGD mRNA:increased expression:long bone PMID:22573557|REF_RGD_ID:7207229 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:619567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:0080322 polycystic kidney disease ISO RGD:2206 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12376805|REF_RGD_ID:7207414 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:619567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis PMID:24886237 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:0090109 autosomal dominant hypocalcemia ISO RGD:2206 D RGD:9068941 20200609 RGD PMID:2106357|REF_RGD_ID:6483581 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:0111253 neurofibromatosis 1 ISO RGD:619567 D RGD:9068941 20200609 RGD protein:decreased expression:blood PMID:22120694|REF_RGD_ID:6483542 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:0111535 progressive osseous heteroplasia ISO RGD:619567 D RGD:9068941 20200609 RGD protein:increased expression:dermis: PMID:18422975|REF_RGD_ID:9068449 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:0111940 immunodeficiency 42 ISO RGD:619567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:619567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:619567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:10283 prostate cancer ISO RGD:619567 D RGD:9068941 20200609 RGD PMID:12565780|REF_RGD_ID:6483580 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:11249 vitamin K deficiency bleeding ISO RGD:619567 D RGD:9068941 20200609 RGD PMID:16869104|REF_RGD_ID:6483568 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:11476 osteoporosis ISO RGD:2206 D RGD:9068941 20200609 RGD PMID:21550389|REF_RGD_ID:6483552 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:11476 osteoporosis ISO RGD:619567 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, type 2;associated with Diabetes Mellitus, type 2; protein:uncercarboxylated:serum PMID:15108065|REF_RGD_ID:6483579 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:11476 osteoporosis susceptibility ISO RGD:619567 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:promoter:g.-298C>T (human) PMID:23137636|REF_RGD_ID:10045665 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:1184 nephrotic syndrome ISO RGD:619567 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:22989431|REF_RGD_ID:7205481 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:14330 Parkinson's disease ISO RGD:619567 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:16114020|REF_RGD_ID:7207224 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:1485 cystic fibrosis ISO RGD:619567 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:16622660|REF_RGD_ID:6483578 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:1540 parathyroid carcinoma ISO RGD:619567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:182 calcinosis ISO RGD:619567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:182 calcinosis ISO RGD:619567 D RGD:9068941 20200609 RGD associated with hypertension;protein:undercarboxylated:serum PMID:20197689|REF_RGD_ID:6483566 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:182 calcinosis ISO RGD:619567 D RGD:9068941 20200609 RGD protein:increased expression:dermis: PMID:18422975|REF_RGD_ID:9068449 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:2841 asthma ISO RGD:619567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8429434 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:4079 heart valve disease ISO RGD:619567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:5812 MHC class II deficiency ISO RGD:619567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:585 nephrolithiasis ISO RGD:619567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis PMID:24886237 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:630 genetic disease ISO RGD:619567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:7148 rheumatoid arthritis ISO RGD:619567 D RGD:9068941 20200609 RGD PMID:22447331|REF_RGD_ID:6483593 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:7148 rheumatoid arthritis ISO RGD:619567 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:3488088|REF_RGD_ID:6483600 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:783 end stage renal disease ISO RGD:2206 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17365904|REF_RGD_ID:7207409 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:783 end stage renal disease ISO RGD:619567 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20845051|REF_RGD_ID:7207235 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:8398 osteoarthritis disease_progression ISO RGD:619567 D RGD:9068941 20200609 RGD PMID:20157712|REF_RGD_ID:6483599 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:8778 Crohn's disease ISO RGD:619567 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone PMID:22535626|REF_RGD_ID:6483321 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:8778 Crohn's disease ISO RGD:619567 D RGD:9068941 20200609 RGD protein:undercarboxylated:serum PMID:21482072|REF_RGD_ID:6483546 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:9002165 Diabetic Nephropathies ISO RGD:619567 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type2; protein:increased expression:serum: PMID:9347246|REF_RGD_ID:7207424 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:619567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14666681 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:9002315 Kidney Calculi ISO RGD:1621634 D RGD:9068941 20200609 RGD PMID:12674322|REF_RGD_ID:7207412 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:9002331 Knee Osteoarthritis ISO RGD:2206 D RGD:9068941 20200609 RGD PMID:21387139|REF_RGD_ID:6483595 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:9002331 Knee Osteoarthritis ISO RGD:619567 D RGD:9068941 20200609 RGD PMID:22294259|REF_RGD_ID:6483563 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:9002407 Spinal Fractures ISO RGD:619567 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; PMID:19641839|REF_RGD_ID:7207248 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:9002407 Spinal Fractures disease_progression ISO RGD:619567 D RGD:9068941 20200609 RGD associated with osteoporosis PMID:12697366|REF_RGD_ID:7207225 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:9002457 Experimental Arthritis ISO RGD:1621634 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:21406003|REF_RGD_ID:6483549 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:9002589 Bone Fractures ISO RGD:619567 D RGD:9068941 20200609 RGD associated with kidney failure, chronic; PMID:21784896|REF_RGD_ID:7207231 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2206 D RGD:9068941 20200609 RGD protein:reduced expression:serum (rat) PMID:19494718|REF_RGD_ID:2316184 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:9006359 Vitamin D Deficiency ISO RGD:2206 D RGD:9068941 20200609 RGD PMID:3105848|REF_RGD_ID:6483561 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:9006646 Metabolic Syndrome ISO RGD:619567 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:21760737|REF_RGD_ID:6483594 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:619567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:619567 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:15747054|REF_RGD_ID:7207410 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:9409 diabetes insipidus ISO RGD:619567 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:9661594|REF_RGD_ID:7207422 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:9744 type 1 diabetes mellitus ISO RGD:619567 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:21041817|REF_RGD_ID:7207232 11687188 BGLAP bone gamma-carboxyglutamate protein gene DOID:9744 type 1 diabetes mellitus ISO RGD:619567 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:9850345|REF_RGD_ID:7207419 11687196 C1QL2 complement C1q like 2 gene DOID:630 genetic disease ISO RGD:1350440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11687203 PRSS16 serine protease 16 gene DOID:630 genetic disease ISO RGD:1315387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11687219 OPRL1 opioid related nociceptin receptor 1 gene DOID:0060001 withdrawal disorder ISO RGD:68657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11027224 11687219 OPRL1 opioid related nociceptin receptor 1 gene DOID:11446 sciatic neuropathy ISO RGD:68438 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:15862535|REF_RGD_ID:9835022 11687219 OPRL1 opioid related nociceptin receptor 1 gene DOID:1574 alcohol use disorder ISO RGD:68438 D RGD:9068941 20200609 RGD PMID:11814626|REF_RGD_ID:9835016 11687219 OPRL1 opioid related nociceptin receptor 1 gene DOID:2560 morphine dependence ISO RGD:68657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11027224 11687219 OPRL1 opioid related nociceptin receptor 1 gene DOID:630 genetic disease ISO RGD:68657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11687219 OPRL1 opioid related nociceptin receptor 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:68657 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16995444 11687219 OPRL1 opioid related nociceptin receptor 1 gene DOID:9000831 Hypokinesia ISO RGD:68657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20950413 11687219 OPRL1 opioid related nociceptin receptor 1 gene DOID:9001109 Anorexia treatment ISO RGD:68438 D RGD:9068941 20200609 RGD PMID:11981590|REF_RGD_ID:9835031 11687219 OPRL1 opioid related nociceptin receptor 1 gene DOID:9001600 Wounds and Injuries ISO RGD:68438 D RGD:9068941 20200609 RGD protein:decreased expression:hypothalamus: PMID:11931711|REF_RGD_ID:9835019 11687219 OPRL1 opioid related nociceptin receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:68438 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy;mRNA:increased expression:spinal cord lumbar segment,dorsal root ganglion: PMID:12106803|REF_RGD_ID:9835017 11687219 OPRL1 opioid related nociceptin receptor 1 gene DOID:9002916 Hyperphagia ISO RGD:68438 D RGD:9068941 20200609 RGD PMID:9669488|PMID:9808678|REF_RGD_ID:9831410|REF_RGD_ID:9835033 11687219 OPRL1 opioid related nociceptin receptor 1 gene DOID:9006302 Binge Drinking ISO RGD:68657 D RGD:9068941 20200609 RGD PMID:29197086|REF_RGD_ID:14348965 11687234 PPFIBP1 PPFIA binding protein 1 gene DOID:1059 intellectual disability ISO RGD:1320664 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:35830857 11687234 PPFIBP1 PPFIA binding protein 1 gene DOID:1826 epilepsy ISO RGD:1320664 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:35830857 11687234 PPFIBP1 PPFIA binding protein 1 gene DOID:3677 pulmonary plasma cell granuloma ISO RGD:1320664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21430068 11687234 PPFIBP1 PPFIA binding protein 1 gene DOID:630 genetic disease ISO RGD:1320664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11687234 PPFIBP1 PPFIA binding protein 1 gene DOID:9006383 Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities ISO RGD:1320664 D RGD:7240710 20221116 OMIM 11687234 PPFIBP1 PPFIA binding protein 1 gene DOID:9006383 Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities ISO RGD:1320664 D RGD:8554872 20221115 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities PMID:25741868|PMID:35830857 11687284 CCDC81 coiled-coil domain containing 81 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1605353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 11687284 CCDC81 coiled-coil domain containing 81 gene DOID:1059 intellectual disability ISO RGD:1605353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11687284 CCDC81 coiled-coil domain containing 81 gene DOID:630 genetic disease ISO RGD:1605353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11687309 LY86 lymphocyte antigen 86 gene DOID:182 calcinosis ISO RGD:1320546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11687309 LY86 lymphocyte antigen 86 gene DOID:4079 heart valve disease ISO RGD:1320546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11687309 LY86 lymphocyte antigen 86 gene DOID:630 genetic disease ISO RGD:1320546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11687309 LY86 lymphocyte antigen 86 gene DOID:9000998 Brain Injuries ISO RGD:1320546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 11687309 LY86 lymphocyte antigen 86 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11687318 PROB1 proline rich basic protein 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:5486560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11687318 PROB1 proline rich basic protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:5486560 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11687318 PROB1 proline rich basic protein 1 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:5486560 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 11687318 PROB1 proline rich basic protein 1 gene DOID:630 genetic disease ISO RGD:5486560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11687318 PROB1 proline rich basic protein 1 gene DOID:9003318 Keratoconus 1 ISO RGD:5486560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 1 11687318 PROB1 proline rich basic protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:5486560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11687318 PROB1 proline rich basic protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:5486560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 11687318 PROB1 proline rich basic protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:5486560 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11687323 TRIM31 tripartite motif containing 31 gene DOID:11372 megacolon ISO RGD:1318479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11687323 TRIM31 tripartite motif containing 31 gene DOID:2772 irritant dermatitis ISO RGD:1318479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27258892 11687323 TRIM31 tripartite motif containing 31 gene DOID:630 genetic disease ISO RGD:1318479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11687348 BAP1 BRCA1 associated protein 1 gene DOID:0050773 paraganglioma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 11687348 BAP1 BRCA1 associated protein 1 gene DOID:0050902 medulloblastoma ISO RGD:1323652 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:24970262|PMID:25741868|PMID:26719535|PMID:28492532|PMID:29641532|PMID:32068069 11687348 BAP1 BRCA1 associated protein 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1323653 D RGD:9068941 20220825 MouseDO OMIM:614286 11687348 BAP1 BRCA1 associated protein 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1323652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma PMID:21642991|PMID:24894717|PMID:26166446|PMID:26452128 11687348 BAP1 BRCA1 associated protein 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1323652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 11687348 BAP1 BRCA1 associated protein 1 gene DOID:11054 urinary bladder cancer ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 11687348 BAP1 BRCA1 associated protein 1 gene DOID:1240 leukemia ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 11687348 BAP1 BRCA1 associated protein 1 gene DOID:169 neuroendocrine tumor ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 11687348 BAP1 BRCA1 associated protein 1 gene DOID:1790 malignant mesothelioma ISO RGD:1323652 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:24928783|PMID:25231345|PMID:26463840|PMID:26928227|PMID:29112861 11687348 BAP1 BRCA1 associated protein 1 gene DOID:1790 malignant mesothelioma ISO RGD:1323653 D RGD:9068941 20200609 RGD PMID:24928783|REF_RGD_ID:9586039 11687348 BAP1 BRCA1 associated protein 1 gene DOID:1793 pancreatic cancer ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 11687348 BAP1 BRCA1 associated protein 1 gene DOID:2513 basal cell carcinoma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26719535 11687348 BAP1 BRCA1 associated protein 1 gene DOID:2513 basal cell carcinoma ISO RGD:1323652 D RGD:9068941 20200609 RGD PMID:25080371|REF_RGD_ID:9586038 11687348 BAP1 BRCA1 associated protein 1 gene DOID:3070 high grade glioma ISO RGD:1323652 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:25741868 11687348 BAP1 BRCA1 associated protein 1 gene DOID:3275 thymoma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24974848 11687348 BAP1 BRCA1 associated protein 1 gene DOID:3315 lipoma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 11687348 BAP1 BRCA1 associated protein 1 gene DOID:3369 Ewing sarcoma ISO RGD:1323652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ewing sarcoma PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11687348 BAP1 BRCA1 associated protein 1 gene DOID:3495 extrahepatic bile duct adenocarcinoma disease_progression ISO RGD:1323652 D RGD:9068941 20210827 RGD PMID:25536104|REF_RGD_ID:150340631 11687348 BAP1 BRCA1 associated protein 1 gene DOID:3565 meningioma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 11687348 BAP1 BRCA1 associated protein 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 11687348 BAP1 BRCA1 associated protein 1 gene DOID:3948 adrenocortical carcinoma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 11687348 BAP1 BRCA1 associated protein 1 gene DOID:4450 renal cell carcinoma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691|PMID:22683710|PMID:23797736|PMID:25231345 11687348 BAP1 BRCA1 associated protein 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1323652 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:25741868|PMID:28492532|PMID:35483881|PMID:35992853 11687348 BAP1 BRCA1 associated protein 1 gene DOID:4531 mucoepidermoid carcinoma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 11687348 BAP1 BRCA1 associated protein 1 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1323652 D RGD:9068941 20210827 RGD PMID:27864835|REF_RGD_ID:150340628 11687348 BAP1 BRCA1 associated protein 1 gene DOID:4947 cholangiocarcinoma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24185509|PMID:25231345 11687348 BAP1 BRCA1 associated protein 1 gene DOID:5078 ganglioglioma ISO RGD:1323652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ganglioglioma PMID:25741868|PMID:28492532 11687348 BAP1 BRCA1 associated protein 1 gene DOID:6039 uveal melanoma ISO RGD:1323652 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Melanoma, uveal, susceptibility to, 2 | ClinVar Annotator: match by term: Uveal melanoma PMID:21874000|PMID:23032617|PMID:23684012|PMID:25687217|PMID:25741868|PMID:26556299|PMID:26683624|PMID:26719535|PMID:28492532|PMID:28793149|PMID:30477459|PMID:31186267|PMID:32002398 11687348 BAP1 BRCA1 associated protein 1 gene DOID:6039 uveal melanoma disease_progression ISO RGD:1323652 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression: : PMID:25147369|REF_RGD_ID:9586037 11687348 BAP1 BRCA1 associated protein 1 gene DOID:6039 uveal melanoma susceptibility ISO RGD:1323652 D RGD:7240710 20230517 OMIM 11687348 BAP1 BRCA1 associated protein 1 gene DOID:630 genetic disease ISO RGD:1323652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11687348 BAP1 BRCA1 associated protein 1 gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:1323652 D RGD:9068941 20210604 RGD PMID:27422796|REF_RGD_ID:127229946 11687348 BAP1 BRCA1 associated protein 1 gene DOID:8923 skin melanoma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345|PMID:26719535 11687348 BAP1 BRCA1 associated protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345|PMID:26719535 11687348 BAP1 BRCA1 associated protein 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24928783 11687348 BAP1 BRCA1 associated protein 1 gene DOID:9001326 Nevus, Epithelioid and Spindle Cell ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 11687348 BAP1 BRCA1 associated protein 1 gene DOID:9002089 Tumor Predisposition Syndrome 1 ISO RGD:1323652 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 | ClinVar Annotator: match by term: Tumor susceptibility linked to germline BAP1 mutations PMID:16199547|PMID:16341802|PMID:17576681|PMID:18757409|PMID:19197335|PMID:21874000|PMID:21874003|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22935333|PMID:23032617|PMID:23171164|PMID:23341325|PMID:23550303|PMID:23585512|PMID:23684012|PMID:23709298|PMID:23849051|PMID:23977234|PMID:24166983|PMID:24187051|PMID:24243779|PMID:24728327|PMID:24970262|PMID:25225168|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25889843|PMID:25929848|PMID:25974357|PMID:26096145|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:26896281|PMID:27123562|PMID:27153395|PMID:27181379|PMID:27507853|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28170043|PMID:28213671|PMID:28380455|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28793149|PMID:28900502|PMID:29212164|PMID:29351919|PMID:29368341|PMID:29478780|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:29978187|PMID:30001711|PMID:30039884|PMID:30113886|PMID:30258054|PMID:30306255|PMID:30338612|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31432501|PMID:31465090|PMID:31887429|PMID:31921681|PMID:32002398|PMID:32068069|PMID:32325837|PMID:32649346|PMID:33240524|PMID:33600035|PMID:33606809|PMID:33646313|PMID:35051358|PMID:35483881|PMID:35992853|PMID:9536098 11687348 BAP1 BRCA1 associated protein 1 gene DOID:9002089 Tumor Predisposition Syndrome 1 susceptibility ISO RGD:1323652 D RGD:7240710 20230517 OMIM 11687348 BAP1 BRCA1 associated protein 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26719535 11687348 BAP1 BRCA1 associated protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 11687348 BAP1 BRCA1 associated protein 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 11687348 BAP1 BRCA1 associated protein 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 11687348 BAP1 BRCA1 associated protein 1 gene DOID:9003566 Mesothelioma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21642991|PMID:21874000|PMID:26119930|PMID:26719535 11687348 BAP1 BRCA1 associated protein 1 gene DOID:9004207 Testicular Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 11687348 BAP1 BRCA1 associated protein 1 gene DOID:9004268 Uterine Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 11687348 BAP1 BRCA1 associated protein 1 gene DOID:9004389 Bone Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 11687348 BAP1 BRCA1 associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28213671|PMID:28492532|PMID:35051358 11687348 BAP1 BRCA1 associated protein 1 gene DOID:9004799 KURY-ISIDOR SYNDROME ISO RGD:1323652 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Kury-Isidor syndrome PMID:16341802|PMID:19197335|PMID:24970262|PMID:25741868|PMID:25974357|PMID:26467025|PMID:26683624|PMID:26719535|PMID:28492532|PMID:28551647|PMID:29641532|PMID:31034483|PMID:32068069|PMID:35051358 11687348 BAP1 BRCA1 associated protein 1 gene DOID:9004799 KURY-ISIDOR SYNDROME susceptibility ISO RGD:1323652 D RGD:7240710 20230517 OMIM 11687348 BAP1 BRCA1 associated protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26719535 11687348 BAP1 BRCA1 associated protein 1 gene DOID:9005825 Nevi and Melanomas ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21874003 11687348 BAP1 BRCA1 associated protein 1 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 11687348 BAP1 BRCA1 associated protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323652 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:18757409|PMID:21642991|PMID:21874000|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22935333|PMID:23171164|PMID:23341325|PMID:23684012|PMID:23709298|PMID:24166983|PMID:24243779|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25889843|PMID:25929848|PMID:25974357|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:27123562|PMID:27181379|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28767289|PMID:28793149|PMID:28900502|PMID:29212164|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30039884|PMID:30258054|PMID:30338612|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31382694|PMID:31382929|PMID:32068069|PMID:32649346|PMID:9536098 11687348 BAP1 BRCA1 associated protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323652 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:18757409|PMID:21642991|PMID:21874000|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22935333|PMID:23171164|PMID:23341325|PMID:23684012|PMID:23709298|PMID:24166983|PMID:24243779|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25889843|PMID:25929848|PMID:25974357|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:27123562|PMID:27181379|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28767289|PMID:28793149|PMID:28900502|PMID:29212164|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30039884|PMID:30258054|PMID:30338612|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31382694|PMID:31382929|PMID:32002398|PMID:32068069|PMID:32649346|PMID:9536098 11687348 BAP1 BRCA1 associated protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323652 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:18757409|PMID:21642991|PMID:21874000|PMID:21874003|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22889334|PMID:22935333|PMID:23032617|PMID:23171164|PMID:23341325|PMID:23684012|PMID:23709298|PMID:23849051|PMID:24166983|PMID:24243779|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25225168|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25889843|PMID:25900292|PMID:25929848|PMID:25974357|PMID:26140217|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:26896281|PMID:27123562|PMID:27181379|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28380455|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28767289|PMID:28793149|PMID:28900502|PMID:29061454|PMID:29212164|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30039884|PMID:30113886|PMID:30258054|PMID:30306255|PMID:30338612|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31432501|PMID:31465090|PMID:31887429|PMID:31921681|PMID:32002398|PMID:32068069|PMID:32649346|PMID:33240524|PMID:33600035|PMID:33606809|PMID:9536098 11687348 BAP1 BRCA1 associated protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:16341802|PMID:17576681|PMID:18757409|PMID:19197335|PMID:21642991|PMID:21874000|PMID:21874003|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22889334|PMID:22935333|PMID:23032617|PMID:23171164|PMID:23341325|PMID:23684012|PMID:23709298|PMID:23849051|PMID:23977234|PMID:24166983|PMID:24243779|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25225168|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25889843|PMID:25900292|PMID:25929848|PMID:25974357|PMID:26140217|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:26896281|PMID:27123562|PMID:27153395|PMID:27181379|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28170043|PMID:28380455|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28767289|PMID:28793149|PMID:28900502|PMID:29061454|PMID:29212164|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30039884|PMID:30113886|PMID:30258054|PMID:30306255|PMID:30338612|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31432501|PMID:31465090|PMID:31887429|PMID:31921681|PMID:32002398|PMID:32068069|PMID:32325837|PMID:32649346|PMID:33240524|PMID:33600035|PMID:33606809|PMID:33646313|PMID:9536098 11687348 BAP1 BRCA1 associated protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323652 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:16341802|PMID:17576681|PMID:18757409|PMID:19197335|PMID:21642991|PMID:21874000|PMID:21874003|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22889334|PMID:22935333|PMID:23032617|PMID:23171164|PMID:23341325|PMID:23684012|PMID:23709298|PMID:23849051|PMID:23977234|PMID:24166983|PMID:24243779|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25225168|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25889843|PMID:25900292|PMID:25929848|PMID:25974357|PMID:26096145|PMID:26140217|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:26896281|PMID:27123562|PMID:27153395|PMID:27181379|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28170043|PMID:28380455|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28767289|PMID:28793149|PMID:28900502|PMID:29061454|PMID:29212164|PMID:29368341|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30039884|PMID:30113886|PMID:30258054|PMID:30306255|PMID:30338612|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31432501|PMID:31465090|PMID:31887429|PMID:31921681|PMID:32002398|PMID:32068069|PMID:32325837|PMID:32649346|PMID:33240524|PMID:33600035|PMID:33606809|PMID:33646313|PMID:35483881|PMID:35992853|PMID:9536098 11687348 BAP1 BRCA1 associated protein 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 11687348 BAP1 BRCA1 associated protein 1 gene DOID:9007701 Central Nervous System Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 11687348 BAP1 BRCA1 associated protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345|PMID:26719535 11687348 BAP1 BRCA1 associated protein 1 gene DOID:9538 multiple myeloma ISO RGD:1323652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11687376 TMEM14C transmembrane protein 14C gene DOID:0110242 cataract 13 with adult i phenotype ISO RGD:1313920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 13 with adult I phenotype PMID:28492532 11687376 TMEM14C transmembrane protein 14C gene DOID:630 genetic disease ISO RGD:1313920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11687397 NFE2L1 NFE2 like bZIP transcription factor 1 gene DOID:630 genetic disease ISO RGD:1323705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11687397 NFE2L1 NFE2 like bZIP transcription factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1323706 D RGD:9068941 20220825 MouseDO OMIM:114550 11687397 NFE2L1 NFE2 like bZIP transcription factor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1323705 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Global developmental delay 11687397 NFE2L1 NFE2 like bZIP transcription factor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1323706 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 11687443 MRPS17 mitochondrial ribosomal protein S17 gene DOID:12849 autistic disorder ISO RGD:1316964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11687443 MRPS17 mitochondrial ribosomal protein S17 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11687443 MRPS17 mitochondrial ribosomal protein S17 gene DOID:630 genetic disease ISO RGD:1316964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11687455 ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:11054 urinary bladder cancer ISO RGD:1354069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 11687455 ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:1354069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25774636 11687455 ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:630 genetic disease ISO RGD:1354069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11687455 ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1354069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11687499 ART3 ADP-ribosyltransferase 3 (inactive) gene DOID:630 genetic disease ISO RGD:1320437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11687499 ART3 ADP-ribosyltransferase 3 (inactive) gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 11687499 ART3 ADP-ribosyltransferase 3 (inactive) gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1320437 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11687534 RPL19 ribosomal protein L19 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:734460 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:28492532 11687547 SCYL2 SCY1 like pseudokinase 2 gene DOID:0080980 arthrogryposis multiplex congenita-4 ISO RGD:1343640 D RGD:7240710 20200318 OMIM 11687547 SCYL2 SCY1 like pseudokinase 2 gene DOID:0080980 arthrogryposis multiplex congenita-4 ISO RGD:1343640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum PMID:25741868|PMID:31960134 11687547 SCYL2 SCY1 like pseudokinase 2 gene DOID:630 genetic disease ISO RGD:1343640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11687588 TBR1 T-box brain transcription factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1557526 D RGD:9068941 20220825 MouseDO 11687588 TBR1 T-box brain transcription factor 1 gene DOID:0070056 autosomal dominant intellectual developmental disorder 26 ISO RGD:1343708 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder due to AUTS2 deficiency PMID:25741868 11687588 TBR1 T-box brain transcription factor 1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1343708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cortical dysplasia PMID:25741868 11687588 TBR1 T-box brain transcription factor 1 gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1343708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gait disturbance PMID:25741868 11687588 TBR1 T-box brain transcription factor 1 gene DOID:1059 intellectual disability ISO RGD:1343708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11687588 TBR1 T-box brain transcription factor 1 gene DOID:12849 autistic disorder ISO RGD:1343708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213|PMID:25741868 11687588 TBR1 T-box brain transcription factor 1 gene DOID:1826 epilepsy ISO RGD:1343708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11687588 TBR1 T-box brain transcription factor 1 gene DOID:630 genetic disease ISO RGD:1343708 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11687588 TBR1 T-box brain transcription factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11687588 TBR1 T-box brain transcription factor 1 gene DOID:9004695 Intellectual Developmental Disorder with Autism and Speech Delay ISO RGD:1343708 D RGD:7240710 20210224 OMIM 11687588 TBR1 T-box brain transcription factor 1 gene DOID:9004695 Intellectual Developmental Disorder with Autism and Speech Delay ISO RGD:1343708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AUTS5 | ClinVar Annotator: match by term: Autism, susceptibility to, 5 PMID:11353400|PMID:25232744|PMID:25741868|PMID:28492532|PMID:30250039 11687588 TBR1 T-box brain transcription factor 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1343708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868 11687588 TBR1 T-box brain transcription factor 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1343708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11687599 GATD1 glutamine amidotransferase class 1 domain containing 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11687599 GATD1 glutamine amidotransferase class 1 domain containing 1 gene DOID:0050729 neutral lipid storage disease ISO RGD:1604948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 11687599 GATD1 glutamine amidotransferase class 1 domain containing 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1604948 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11687599 GATD1 glutamine amidotransferase class 1 domain containing 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:1604948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11687599 GATD1 glutamine amidotransferase class 1 domain containing 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11687599 GATD1 glutamine amidotransferase class 1 domain containing 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11687599 GATD1 glutamine amidotransferase class 1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1604948 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11687599 GATD1 glutamine amidotransferase class 1 domain containing 1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1604948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11687655 NAV2 neuron navigator 2 gene DOID:0060224 atrial fibrillation ISO RGD:1320655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11687655 NAV2 neuron navigator 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1320655 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 11687655 NAV2 neuron navigator 2 gene DOID:1059 intellectual disability ISO RGD:1320655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11687655 NAV2 neuron navigator 2 gene DOID:630 genetic disease ISO RGD:1320655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11687716 FAM13A family with sequence similarity 13 member A gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1320343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 11687716 FAM13A family with sequence similarity 13 member A gene DOID:0110859 polycystic kidney disease 2 ISO RGD:1320343 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 2 PMID:25741868 11687716 FAM13A family with sequence similarity 13 member A gene DOID:1749 squamous cell carcinoma ISO RGD:1320343 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 11687716 FAM13A family with sequence similarity 13 member A gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1320343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease 11687716 FAM13A family with sequence similarity 13 member A gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1320343 D RGD:9068941 20200609 RGD DNA:SNP: :rs7671167 (human) PMID:25928290|REF_RGD_ID:11552597 11687716 FAM13A family with sequence similarity 13 member A gene DOID:3770 pulmonary fibrosis ISO RGD:1320343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28166215 11687716 FAM13A family with sequence similarity 13 member A gene DOID:630 genetic disease ISO RGD:1320343 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:27993330 11687716 FAM13A family with sequence similarity 13 member A gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1320343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 11687766 PPP2R2D protein phosphatase 2 regulatory subunit Bdelta gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1351294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11687766 PPP2R2D protein phosphatase 2 regulatory subunit Bdelta gene DOID:630 genetic disease ISO RGD:1351294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11687792 NAP1L1 nucleosome assembly protein 1 like 1 gene DOID:11240 appendiceal neoplasm severity ISO RGD:737279 D RGD:9068941 20200609 RGD mRNA:increased expression:appendix, mucosa (human) PMID:16794389|REF_RGD_ID:9590083 11687792 NAP1L1 nucleosome assembly protein 1 like 1 gene DOID:1793 pancreatic cancer ISO RGD:737279 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:25071868|REF_RGD_ID:9590074 11687792 NAP1L1 nucleosome assembly protein 1 like 1 gene DOID:630 genetic disease ISO RGD:737279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11687792 NAP1L1 nucleosome assembly protein 1 like 1 gene DOID:687 hepatoblastoma ISO RGD:737279 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:12935928|REF_RGD_ID:9590075 11687792 NAP1L1 nucleosome assembly protein 1 like 1 gene DOID:9002669 Hypoxia ISO RGD:71094 D RGD:9068941 20200609 RGD protein:decreased dimerization:hippocampus (rat) PMID:24893663|REF_RGD_ID:9590077 11687792 NAP1L1 nucleosome assembly protein 1 like 1 gene DOID:9004109 Intestinal Carcinoid Tumors ISO RGD:737279 D RGD:9068941 20200609 RGD mRNA:increased expression:intestinal mucosa (human) PMID:16424981|REF_RGD_ID:9590082 11687792 NAP1L1 nucleosome assembly protein 1 like 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:737279 D RGD:9068941 20200609 RGD mRNA:increased expression:colon (human) PMID:12384809|REF_RGD_ID:9590076 11687821 SPOP speckle type BTB/POZ protein gene DOID:10283 prostate cancer ISO RGD:1323163 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer PMID:23265383|PMID:25741868|PMID:26619011 11687821 SPOP speckle type BTB/POZ protein gene DOID:10534 stomach cancer exacerbates ISO RGD:1323163 D RGD:9068941 20220729 RGD protein:decreased expression:stomach (human) PMID:25204354|REF_RGD_ID:153298922 11687821 SPOP speckle type BTB/POZ protein gene DOID:2526 prostate adenocarcinoma ISO RGD:1323163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:23265383|PMID:26619011 11687821 SPOP speckle type BTB/POZ protein gene DOID:363 uterine cancer ISO RGD:1323163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:26619011 11687821 SPOP speckle type BTB/POZ protein gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1323163 D RGD:9068941 20220729 RGD mRNA, protein:increased expression:lung (human) PMID:28927035|REF_RGD_ID:153298923 11687821 SPOP speckle type BTB/POZ protein gene DOID:3910 lung adenocarcinoma ISO RGD:1323163 D RGD:9068941 20220729 RGD mRNA, protein:increased expression:lung (human) PMID:31105033|REF_RGD_ID:153298927 11687821 SPOP speckle type BTB/POZ protein gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1323163 D RGD:9068941 20220729 RGD human gene and cell line in mouse model PMID:30607139|REF_RGD_ID:153298920 11687821 SPOP speckle type BTB/POZ protein gene DOID:630 genetic disease ISO RGD:1323163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32109420 11687821 SPOP speckle type BTB/POZ protein gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1323163 D RGD:9068941 20220729 RGD human cells in mouse model PMID:33209975|REF_RGD_ID:153298924 11687821 SPOP speckle type BTB/POZ protein gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1323163 D RGD:9068941 20220729 RGD mRNA:decreased expression:liver (human) PMID:26156804|REF_RGD_ID:11074965 11687821 SPOP speckle type BTB/POZ protein gene DOID:687 hepatoblastoma ISO RGD:1323163 D RGD:9068941 20220729 RGD mRNA:decreased expression:liver (human) PMID:24912477|REF_RGD_ID:153298925 11687821 SPOP speckle type BTB/POZ protein gene DOID:9001256 Nabais Sa-de Vries Syndrome, Type 1 ISO RGD:1323163 D RGD:7240710 20200520 OMIM 11687821 SPOP speckle type BTB/POZ protein gene DOID:9001256 Nabais Sa-de Vries Syndrome, Type 1 ISO RGD:1323163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and dysmorphic facies PMID:25741868|PMID:32109420 11687821 SPOP speckle type BTB/POZ protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1323163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22610119|PMID:29295717|PMID:29610475 11687821 SPOP speckle type BTB/POZ protein gene DOID:9004007 Nabais Sa-de Vries Syndrome, Type 2 ISO RGD:1323163 D RGD:7240710 20200520 OMIM 11687821 SPOP speckle type BTB/POZ protein gene DOID:9004007 Nabais Sa-de Vries Syndrome, Type 2 ISO RGD:1323163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NABAIS SA-DE VRIES SYNDROME, TYPE 2 | ClinVar Annotator: match by term: Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies PMID:25741868|PMID:32109420 11687821 SPOP speckle type BTB/POZ protein gene DOID:9007715 Endometrial Neoplasms ISO RGD:1323163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 11687821 SPOP speckle type BTB/POZ protein gene DOID:9008138 Ductal Carcinoma ISO RGD:1323163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29295717 11687821 SPOP speckle type BTB/POZ protein gene DOID:9256 colorectal cancer ISO RGD:1323163 D RGD:9068941 20220729 RGD mRNA:decreased expression:colorectum (human) PMID:30171794|REF_RGD_ID:153298926 11687821 SPOP speckle type BTB/POZ protein gene DOID:9256 colorectal cancer exacerbates ISO RGD:1323163 D RGD:9068941 20220729 RGD DNA:hypermethylation:promoter (human) PMID:28032859|REF_RGD_ID:153298921 11687821 SPOP speckle type BTB/POZ protein gene DOID:9256 colorectal cancer exacerbates ISO RGD:1323163 D RGD:9068941 20220729 RGD protein:decreased expression:colorectum (human) PMID:26022775|REF_RGD_ID:11056110 11687839 USP19 ubiquitin specific peptidase 19 gene DOID:2843 long QT syndrome ISO RGD:1344113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11687839 USP19 ubiquitin specific peptidase 19 gene DOID:630 genetic disease ISO RGD:1344113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11687839 USP19 ubiquitin specific peptidase 19 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1344113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11687839 USP19 ubiquitin specific peptidase 19 gene DOID:9001793 Generalized Epilepsy ISO RGD:1344113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 11687870 TRAF3IP1 TRAF3 interacting protein 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1319493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:28492532|PMID:29068549 11687870 TRAF3IP1 TRAF3 interacting protein 1 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1319493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:16199547|PMID:21945076|PMID:26487268|PMID:28492532|PMID:29068549 11687870 TRAF3IP1 TRAF3 interacting protein 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1319493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11687870 TRAF3IP1 TRAF3 interacting protein 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1319493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11687870 TRAF3IP1 TRAF3 interacting protein 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1319493 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11687870 TRAF3IP1 TRAF3 interacting protein 1 gene DOID:1059 intellectual disability ISO RGD:1319493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11687870 TRAF3IP1 TRAF3 interacting protein 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1319493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:25741868 11687870 TRAF3IP1 TRAF3 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1319493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11687870 TRAF3IP1 TRAF3 interacting protein 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1319493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11687870 TRAF3IP1 TRAF3 interacting protein 1 gene DOID:9001693 Senior-Loken Syndrome 9 ISO RGD:1319493 D RGD:7240710 20180130 OMIM 11687870 TRAF3IP1 TRAF3 interacting protein 1 gene DOID:9001693 Senior-Loken Syndrome 9 ISO RGD:1319493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 9 PMID:21945076|PMID:25741868|PMID:26487268|PMID:28492532|PMID:29068549 11687902 PPM1A protein phosphatase, Mg2+/Mn2+ dependent 1A gene DOID:630 genetic disease ISO RGD:731572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11687940 LOC100971944 BAF chromatin remodeling complex subunit BCL7C gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1318207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11687940 LOC100971944 BAF chromatin remodeling complex subunit BCL7C gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1318207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 11687940 LOC100971944 BAF chromatin remodeling complex subunit BCL7C gene DOID:630 genetic disease ISO RGD:1318207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11687940 LOC100971944 BAF chromatin remodeling complex subunit BCL7C gene DOID:9005834 Ependymomas ISO RGD:1318207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075792 11687950 BDKRB1 bradykinin receptor B1 gene DOID:0050855 renal fibrosis ISO RGD:731358 D RGD:9068941 20200609 RGD PMID:18809736|REF_RGD_ID:7241554 11687950 BDKRB1 bradykinin receptor B1 gene DOID:0070355 overactive bladder syndrome ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:15576455|REF_RGD_ID:1625040 11687950 BDKRB1 bradykinin receptor B1 gene DOID:10247 pleurisy ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:11853231|REF_RGD_ID:5129218 11687950 BDKRB1 bradykinin receptor B1 gene DOID:10763 hypertension ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:12025958|PMID:17988733|REF_RGD_ID:5129214|REF_RGD_ID:704378 11687950 BDKRB1 bradykinin receptor B1 gene DOID:10763 hypertension ISO RGD:730874 D RGD:9068941 20200609 RGD DNA:polymorphisms:CDS:in American-Caucasians,T allele of SNP8, C allele of SNP12, T allele of SNP13 PMID:15643125|REF_RGD_ID:1625732 11687950 BDKRB1 bradykinin receptor B1 gene DOID:10952 nephritis ISO RGD:731358 D RGD:9068941 20200609 RGD PMID:18809736|REF_RGD_ID:7241554 11687950 BDKRB1 bradykinin receptor B1 gene DOID:11446 sciatic neuropathy ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:18182225|REF_RGD_ID:5129227 11687950 BDKRB1 bradykinin receptor B1 gene DOID:11713 diabetic angiopathy ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:15878326|REF_RGD_ID:7241570 11687950 BDKRB1 bradykinin receptor B1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:731358 D RGD:9068941 20200609 RGD PMID:21412216|REF_RGD_ID:7175321 11687950 BDKRB1 bradykinin receptor B1 gene DOID:1826 epilepsy ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:12746865|REF_RGD_ID:704381 11687950 BDKRB1 bradykinin receptor B1 gene DOID:2224 essential thrombocythemia ISO RGD:730874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 11687950 BDKRB1 bradykinin receptor B1 gene DOID:2921 glomerulonephritis ISO RGD:730874 D RGD:9068941 20200609 RGD PMID:20448019|REF_RGD_ID:7241551 11687950 BDKRB1 bradykinin receptor B1 gene DOID:2921 glomerulonephritis ISO RGD:731358 D RGD:9068941 20200609 RGD PMID:20448019|REF_RGD_ID:7241551 11687950 BDKRB1 bradykinin receptor B1 gene DOID:3328 temporal lobe epilepsy ISO RGD:730874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15196965 11687950 BDKRB1 bradykinin receptor B1 gene DOID:3770 pulmonary fibrosis ISO RGD:730874 D RGD:9068941 20200609 RGD PMID:20451601|REF_RGD_ID:5129229 11687950 BDKRB1 bradykinin receptor B1 gene DOID:4483 rhinitis ISO RGD:730874 D RGD:9068941 20200609 RGD PMID:12165532|REF_RGD_ID:5129220 11687950 BDKRB1 bradykinin receptor B1 gene DOID:4971 myelofibrosis ISO RGD:730874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis 11687950 BDKRB1 bradykinin receptor B1 gene DOID:5844 myocardial infarction ISO RGD:620401 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:12489796|REF_RGD_ID:704379 11687950 BDKRB1 bradykinin receptor B1 gene DOID:630 genetic disease ISO RGD:730874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11687950 BDKRB1 bradykinin receptor B1 gene DOID:783 end stage renal disease ISO RGD:730874 D RGD:9068941 20200609 RGD PMID:10604543|REF_RGD_ID:7241582 11687950 BDKRB1 bradykinin receptor B1 gene DOID:783 end stage renal disease no_association ISO RGD:730874 D RGD:9068941 20200609 RGD DNA: SNP: G(-699)C PMID:10809796|REF_RGD_ID:7241561 11687950 BDKRB1 bradykinin receptor B1 gene DOID:783 end stage renal disease resistance ISO RGD:730874 D RGD:9068941 20200609 RGD DNA: SNP: G-699-->C PMID:9555662|REF_RGD_ID:7241560 11687950 BDKRB1 bradykinin receptor B1 gene DOID:8947 diabetic retinopathy treatment ISO RGD:620401 D RGD:9068941 20200716 RGD associated with Diabetes Mellitus, Experimental PMID:18311190|REF_RGD_ID:2313334 11687950 BDKRB1 bradykinin receptor B1 gene DOID:9000197 Edema severity ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:12411434|REF_RGD_ID:628496 11687950 BDKRB1 bradykinin receptor B1 gene DOID:9000352 Vascular System Injuries ISO RGD:730874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16982965 11687950 BDKRB1 bradykinin receptor B1 gene DOID:9000641 Pain ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:17988733|REF_RGD_ID:5129214 11687950 BDKRB1 bradykinin receptor B1 gene DOID:9000641 Pain ISO RGD:730874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20152050 11687950 BDKRB1 bradykinin receptor B1 gene DOID:9000784 Fibrosis ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:15253105|REF_RGD_ID:1625759 11687950 BDKRB1 bradykinin receptor B1 gene DOID:9002211 Hyperalgesia ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:12927641|REF_RGD_ID:1579989 11687950 BDKRB1 bradykinin receptor B1 gene DOID:9002211 Hyperalgesia ISO RGD:730874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17989505|PMID:19300402|PMID:19815945 11687950 BDKRB1 bradykinin receptor B1 gene DOID:9002211 Hyperalgesia ISO RGD:731358 D RGD:9068941 20200609 RGD PMID:12637034|REF_RGD_ID:7241581 11687950 BDKRB1 bradykinin receptor B1 gene DOID:9002457 Experimental Arthritis ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:15001555|REF_RGD_ID:1625760 11687950 BDKRB1 bradykinin receptor B1 gene DOID:9002661 Diabetes Complications ISO RGD:731358 D RGD:9068941 20200609 RGD PMID:20479236|REF_RGD_ID:7241550 11687950 BDKRB1 bradykinin receptor B1 gene DOID:9002720 Splenomegaly ISO RGD:730874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20096676 11687950 BDKRB1 bradykinin receptor B1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:620401 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:12489796|REF_RGD_ID:704379 11687950 BDKRB1 bradykinin receptor B1 gene DOID:9005372 Inflammation ISO RGD:730874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20152050 11687950 BDKRB1 bradykinin receptor B1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:12522068|REF_RGD_ID:704380 11687950 BDKRB1 bradykinin receptor B1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620401 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:12489796|REF_RGD_ID:704379 11687950 BDKRB1 bradykinin receptor B1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21430409 11687950 BDKRB1 bradykinin receptor B1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731358 D RGD:9068941 20200609 RGD PMID:20092893|REF_RGD_ID:7241569 11687950 BDKRB1 bradykinin receptor B1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:731358 D RGD:9068941 20200609 RGD PMID:18725957|REF_RGD_ID:7241559 11687950 BDKRB1 bradykinin receptor B1 gene DOID:9007692 Insulin Resistance ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:17618300|PMID:17988733|REF_RGD_ID:5129214|REF_RGD_ID:5129217 11687950 BDKRB1 bradykinin receptor B1 gene DOID:9008887 Microvascular Angina ISO RGD:730874 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, mononuclear cell PMID:17852785|REF_RGD_ID:4890450 11687950 BDKRB1 bradykinin receptor B1 gene DOID:9119 acute myeloid leukemia ISO RGD:730874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 11687950 BDKRB1 bradykinin receptor B1 gene DOID:9743 diabetic neuropathy ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:20587056|REF_RGD_ID:5129222 11687950 BDKRB1 bradykinin receptor B1 gene DOID:9970 obesity ISO RGD:731358 D RGD:9068941 20200609 RGD ob/ob mice mRNA:decreased expression:brown adipose tissue, heart mRNA:increased expression:white adipose tissue, hypothalamus PMID:17184856|REF_RGD_ID:1625733 11687968 TOP1MT DNA topoisomerase I mitochondrial gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1351494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11687968 TOP1MT DNA topoisomerase I mitochondrial gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1351494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11687968 TOP1MT DNA topoisomerase I mitochondrial gene DOID:10003 sensorineural hearing loss ISO RGD:1351494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 11687968 TOP1MT DNA topoisomerase I mitochondrial gene DOID:4621 holoprosencephaly ISO RGD:1351494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11687968 TOP1MT DNA topoisomerase I mitochondrial gene DOID:630 genetic disease ISO RGD:1351494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11688005 MVP major vault protein gene DOID:0060019 coronin-1A deficiency ISO RGD:732476 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11688005 MVP major vault protein gene DOID:0060041 autism spectrum disorder ISO RGD:732476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 11688005 MVP major vault protein gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:732476 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 11688005 MVP major vault protein gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:732476 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 11688005 MVP major vault protein gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:732476 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11688005 MVP major vault protein gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:732476 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 11688005 MVP major vault protein gene DOID:12849 autistic disorder ISO RGD:732476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11688005 MVP major vault protein gene DOID:1882 atrial heart septal defect ISO RGD:732476 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 11688005 MVP major vault protein gene DOID:5419 schizophrenia ISO RGD:732476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11688005 MVP major vault protein gene DOID:630 genetic disease ISO RGD:732476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11688005 MVP major vault protein gene DOID:8398 osteoarthritis ISO RGD:732476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11688005 MVP major vault protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11688005 MVP major vault protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11688005 MVP major vault protein gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:732476 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11688005 MVP major vault protein gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:732476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 11688005 MVP major vault protein gene DOID:9007283 Familial Infantile Convulsions and Paroxysmal Choreoathetosis ISO RGD:732476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial PMID:25741868 11688027 SCT secretin gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11688027 SCT secretin gene DOID:0050729 neutral lipid storage disease ISO RGD:735506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 11688027 SCT secretin gene DOID:0080773 delta beta-thalassemia ISO RGD:735506 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11688027 SCT secretin gene DOID:0111969 immunodeficiency 39 ISO RGD:735506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11688027 SCT secretin gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11688027 SCT secretin gene DOID:11612 polycystic ovary syndrome ISO RGD:735506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11688027 SCT secretin gene DOID:12849 autistic disorder ISO RGD:735506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12732234|PMID:15206007|PMID:15272612|PMID:16168596 11688027 SCT secretin gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11688027 SCT secretin gene DOID:630 genetic disease ISO RGD:735506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688027 SCT secretin gene DOID:899 choledochal cyst ISO RGD:735506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 11688027 SCT secretin gene DOID:9002554 Tachycardia ISO RGD:735506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2103752 11688027 SCT secretin gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:735506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11688035 VOPP1 VOPP1 WW domain binding protein gene DOID:12849 autistic disorder ISO RGD:1602094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11688035 VOPP1 VOPP1 WW domain binding protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11688035 VOPP1 VOPP1 WW domain binding protein gene DOID:630 genetic disease ISO RGD:1602094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688035 VOPP1 VOPP1 WW domain binding protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11688035 VOPP1 VOPP1 WW domain binding protein gene DOID:9119 acute myeloid leukemia ISO RGD:1602094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 11688054 ZNF710 zinc finger protein 710 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1606391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 11688054 ZNF710 zinc finger protein 710 gene DOID:2717 Bloom syndrome ISO RGD:1606391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11688054 ZNF710 zinc finger protein 710 gene DOID:630 genetic disease ISO RGD:1606391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688054 ZNF710 zinc finger protein 710 gene DOID:9256 colorectal cancer ISO RGD:1606391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11688087 FAM47A family with sequence similarity 47 member A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347430 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11688087 FAM47A family with sequence similarity 47 member A gene DOID:1059 intellectual disability ISO RGD:1347430 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11688087 FAM47A family with sequence similarity 47 member A gene DOID:12849 autistic disorder ISO RGD:1347430 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11688087 FAM47A family with sequence similarity 47 member A gene DOID:630 genetic disease ISO RGD:1347430 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11688087 FAM47A family with sequence similarity 47 member A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347430 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11688087 FAM47A family with sequence similarity 47 member A gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1347430 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 11688093 PRDM6 PR/SET domain 6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350258 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11688093 PRDM6 PR/SET domain 6 gene DOID:13832 patent ductus arteriosus ISO RGD:1350258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11688093 PRDM6 PR/SET domain 6 gene DOID:1682 congenital heart disease ISO RGD:1350258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of 11688093 PRDM6 PR/SET domain 6 gene DOID:630 genetic disease ISO RGD:1350258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688093 PRDM6 PR/SET domain 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11688093 PRDM6 PR/SET domain 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350258 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11688093 PRDM6 PR/SET domain 6 gene DOID:9007386 Congenital Lower Urinary Tract Obstruction ISO RGD:1350258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital PMID:31690835 11688093 PRDM6 PR/SET domain 6 gene DOID:9007470 Patent Ductus Arteriosus 3 ISO RGD:1350258 D RGD:7240710 20190315 OMIM 11688093 PRDM6 PR/SET domain 6 gene DOID:9007470 Patent Ductus Arteriosus 3 ISO RGD:1350258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Patent ductus arteriosus 3 PMID:25741868|PMID:27181681 11688103 SWAP70 switching B cell complex subunit SWAP70 gene DOID:630 genetic disease ISO RGD:1604631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688120 RPL8 ribosomal protein L8 gene DOID:630 genetic disease ISO RGD:735772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688133 TMC7 transmembrane channel like 7 gene DOID:630 genetic disease ISO RGD:1344679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688153 ASB16 ankyrin repeat and SOCS box containing 16 gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1313384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 11688153 ASB16 ankyrin repeat and SOCS box containing 16 gene DOID:630 genetic disease ISO RGD:1313384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688188 STX1B syntaxin 1B gene DOID:0060170 generalized epilepsy with febrile seizures plus ISO RGD:736110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus 11688188 STX1B syntaxin 1B gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:736110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11688188 STX1B syntaxin 1B gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:736110 D RGD:7240710 20180130 OMIM 11688188 STX1B syntaxin 1B gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:736110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:11591834|PMID:16199547|PMID:17576681|PMID:18479394|PMID:25362483|PMID:25741868|PMID:26467025|PMID:26818399|PMID:28166811|PMID:28492532|PMID:30737342|PMID:31273778|PMID:9536098 11688188 STX1B syntaxin 1B gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736111 D RGD:9068941 20200609 RGD PMID:26604869|REF_RGD_ID:12903957 11688188 STX1B syntaxin 1B gene DOID:1826 epilepsy ISO RGD:736110 D RGD:9068941 20221208 CTD CTD Direct Evidence: marker/mechanism PMID:25362483 11688188 STX1B syntaxin 1B gene DOID:630 genetic disease ISO RGD:736110 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18691641|PMID:25362483|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30737342 11688188 STX1B syntaxin 1B gene DOID:9001793 Generalized Epilepsy ISO RGD:736110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 11688188 STX1B syntaxin 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25362483|PMID:25741868 11688188 STX1B syntaxin 1B gene DOID:9007956 Febrile Seizures ISO RGD:736110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25362483 11688202 ALKBH2 alkB homolog 2, alpha-ketoglutarate dependent dioxygenase gene DOID:630 genetic disease ISO RGD:1605008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688228 MYG1 MYG1 exonuclease gene DOID:0050602 triple-A syndrome ISO RGD:1350875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Achalasia alacrima syndrome 11688239 CCDC190 coiled-coil domain containing 190 gene DOID:1540 parathyroid carcinoma ISO RGD:1606402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11688239 CCDC190 coiled-coil domain containing 190 gene DOID:630 genetic disease ISO RGD:1606402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688239 CCDC190 coiled-coil domain containing 190 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11688247 CRELD1 cysteine rich with EGF like domains 1 gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1319745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 11688247 CRELD1 cysteine rich with EGF like domains 1 gene DOID:1681 heart septal defect susceptibility ISO RGD:1319745 D RGD:9068941 20200609 RGD Atrioventricular septal defect;DNA:missense mutations PMID:12632326|REF_RGD_ID:1600967 11688247 CRELD1 cysteine rich with EGF like domains 1 gene DOID:2843 long QT syndrome ISO RGD:1319745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11688247 CRELD1 cysteine rich with EGF like domains 1 gene DOID:630 genetic disease ISO RGD:1319745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11688247 CRELD1 cysteine rich with EGF like domains 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1319745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:25741868|PMID:28492532 11688247 CRELD1 cysteine rich with EGF like domains 1 gene DOID:9001355 Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome ISO RGD:1319745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, partial, with heterotaxy syndrome PMID:12632326|PMID:24697899|PMID:28492532 11688247 CRELD1 cysteine rich with EGF like domains 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11688247 CRELD1 cysteine rich with EGF like domains 1 gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1319745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:25741868|PMID:28492532 11688247 CRELD1 cysteine rich with EGF like domains 1 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1319745 D RGD:7240710 20230517 OMIM 11688247 CRELD1 cysteine rich with EGF like domains 1 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1319745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 | ClinVar Annotator: match by term: CRELD1-related condition PMID:11376440|PMID:12632326|PMID:15857420|PMID:17036335|PMID:21080147|PMID:23040494|PMID:24697899|PMID:24927998|PMID:25516202|PMID:25741868|PMID:28166811|PMID:28492532 11688260 PGR progesterone receptor gene DOID:0060074 ductal carcinoma in situ disease_progression ISO RGD:731081 D RGD:9068941 20200609 RGD PMID:12628841|REF_RGD_ID:2289659 11688260 PGR progesterone receptor gene DOID:1059 intellectual disability ISO RGD:731081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11688260 PGR progesterone receptor gene DOID:11612 polycystic ovary syndrome ISO RGD:3317 D RGD:9068941 20200609 RGD protein:decreased expression:ovary: PMID:19698287|REF_RGD_ID:4145934 11688260 PGR progesterone receptor gene DOID:127 leiomyoma no_association ISO RGD:731081 D RGD:9068941 20200609 RGD PMID:15807882|REF_RGD_ID:1601278 11688260 PGR progesterone receptor gene DOID:12700 hyperprolactinemia susceptibility ISO RGD:731081 D RGD:9068941 20200609 RGD PMID:15807882|REF_RGD_ID:1601278 11688260 PGR progesterone receptor gene DOID:12704 ataxia telangiectasia ISO RGD:731081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11688260 PGR progesterone receptor gene DOID:289 endometriosis ISO RGD:3317 D RGD:9068941 20200609 RGD PMID:21166214|REF_RGD_ID:7248704 11688260 PGR progesterone receptor gene DOID:289 endometriosis ISO RGD:731081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642|PMID:21232532 11688260 PGR progesterone receptor gene DOID:289 endometriosis ISO RGD:731081 D RGD:9068941 20200609 RGD PMID:16126772|REF_RGD_ID:1601277 11688260 PGR progesterone receptor gene DOID:299 adenocarcinoma ISO RGD:731081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15639718 11688260 PGR progesterone receptor gene DOID:305 carcinoma ISO RGD:731081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15637090 11688260 PGR progesterone receptor gene DOID:3565 meningioma ISO RGD:731081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19731987|PMID:19747051|PMID:8008172 11688260 PGR progesterone receptor gene DOID:630 genetic disease ISO RGD:731081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688260 PGR progesterone receptor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15637090 11688260 PGR progesterone receptor gene DOID:9000998 Brain Injuries ISO RGD:3317 D RGD:9068941 20200609 RGD PMID:23211561|REF_RGD_ID:7248711 11688260 PGR progesterone receptor gene DOID:9002801 Recurrence ISO RGD:731081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19747051 11688260 PGR progesterone receptor gene DOID:9003566 Mesothelioma ISO RGD:731081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15639718 11688260 PGR progesterone receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15637090 11688260 PGR progesterone receptor gene DOID:9006882 Progesterone Resistance ISO RGD:731081 D RGD:7240710 20180130 OMIM 11688260 PGR progesterone receptor gene DOID:9007715 Endometrial Neoplasms ISO RGD:731081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23200943 11688260 PGR progesterone receptor gene DOID:9008939 Breast Neoplasms ISO RGD:731081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19436038|PMID:21501481 11688260 PGR progesterone receptor gene DOID:9970 obesity ISO RGD:731081 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:PROGINS polymorphism, combination of long polyglutamine repeat in NCOA3 and homozygous A1/A1 PGR PROGINS genotype associated with obesity in 301 postmenopausal women with breast cancer PMID:14557830|REF_RGD_ID:1642050 11688278 OXA1L OXA1L mitochondrial inner membrane protein gene DOID:0060439 lysinuric protein intolerance ISO RGD:1316768 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:18716612 11688278 OXA1L OXA1L mitochondrial inner membrane protein gene DOID:10283 prostate cancer ISO RGD:1316768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11688278 OXA1L OXA1L mitochondrial inner membrane protein gene DOID:2661 myoepithelioma ISO RGD:1316768 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11688278 OXA1L OXA1L mitochondrial inner membrane protein gene DOID:630 genetic disease ISO RGD:1316768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688278 OXA1L OXA1L mitochondrial inner membrane protein gene DOID:700 mitochondrial metabolism disease ISO RGD:1316768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:30201738 11688278 OXA1L OXA1L mitochondrial inner membrane protein gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1316768 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11688292 PHOX2A paired like homeobox 2A gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:733682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:19732866|PMID:22586289|PMID:28492532 11688292 PHOX2A paired like homeobox 2A gene DOID:0081016 congenital fibrosis of the extraocular muscles 2 ISO RGD:733682 D RGD:7240710 20180130 OMIM 11688292 PHOX2A paired like homeobox 2A gene DOID:0081016 congenital fibrosis of the extraocular muscles 2 ISO RGD:733682 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 2 PMID:11600883|PMID:25741868 11688292 PHOX2A paired like homeobox 2A gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:733682 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11688292 PHOX2A paired like homeobox 2A gene DOID:1059 intellectual disability ISO RGD:733682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11688292 PHOX2A paired like homeobox 2A gene DOID:630 genetic disease ISO RGD:733682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688292 PHOX2A paired like homeobox 2A gene DOID:9000784 Fibrosis ISO RGD:733682 D RGD:9068941 20200609 RGD PMID:11600883|REF_RGD_ID:1599902 11688292 PHOX2A paired like homeobox 2A gene DOID:9352 type 2 diabetes mellitus ISO RGD:733683 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 11688298 MTCL1 microtubule crosslinking factor 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1348438 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:30548255 11688298 MTCL1 microtubule crosslinking factor 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1348438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11688298 MTCL1 microtubule crosslinking factor 1 gene DOID:1059 intellectual disability ISO RGD:1348438 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11688298 MTCL1 microtubule crosslinking factor 1 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1348438 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:23902687|PMID:25741868 11688298 MTCL1 microtubule crosslinking factor 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1348438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28166215 11688298 MTCL1 microtubule crosslinking factor 1 gene DOID:630 genetic disease ISO RGD:1348438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688325 SNTA1 syntrophin alpha 1 gene DOID:0050451 Brugada syndrome ISO RGD:1316039 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:26220970|PMID:28492532 11688325 SNTA1 syntrophin alpha 1 gene DOID:0060224 atrial fibrillation ISO RGD:1316039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:18591664|PMID:22378279|PMID:25741868|PMID:27028743|PMID:28492532|PMID:31589614 11688325 SNTA1 syntrophin alpha 1 gene DOID:0081164 dilated cardiomyopathy 3B ISO RGD:1316039 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 3B PMID:25741868|PMID:28492532 11688325 SNTA1 syntrophin alpha 1 gene DOID:0110461 X-linked dilated cardiomyopathy ISO RGD:1316039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, X-LINKED PMID:25741868|PMID:28492532 11688325 SNTA1 syntrophin alpha 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:1316039 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:19684871|PMID:20009079|PMID:22584458|PMID:23834499|PMID:23861362|PMID:24014171|PMID:24319568|PMID:25650408|PMID:25741868|PMID:25956966|PMID:26159999|PMID:28492532|PMID:28837624|PMID:29343803|PMID:30847666 11688325 SNTA1 syntrophin alpha 1 gene DOID:0110645 long QT syndrome 2 ISO RGD:1316039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 11688325 SNTA1 syntrophin alpha 1 gene DOID:0110653 long QT syndrome 12 ISO RGD:1316039 D RGD:7240710 20180130 OMIM 11688325 SNTA1 syntrophin alpha 1 gene DOID:0110653 long QT syndrome 12 ISO RGD:1316039 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 12 PMID:17576681|PMID:18591664|PMID:19684871|PMID:20009079|PMID:22378279|PMID:22584458|PMID:23376825|PMID:23465283|PMID:23631430|PMID:23834499|PMID:23861362|PMID:24014171|PMID:24319568|PMID:25395996|PMID:25650408|PMID:25741868|PMID:25864170|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26220970|PMID:27028743|PMID:28074886|PMID:28166811|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28837624|PMID:29247119|PMID:29343803|PMID:29806494|PMID:30403391|PMID:30471092|PMID:30615648|PMID:30847666|PMID:30975432|PMID:31589614|PMID:31737537|PMID:32032478|PMID:9536098 11688325 SNTA1 syntrophin alpha 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1316039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:25741868|PMID:28492532 11688325 SNTA1 syntrophin alpha 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1316039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 11688325 SNTA1 syntrophin alpha 1 gene DOID:13884 sick sinus syndrome ISO RGD:1316039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome PMID:25741868|PMID:28492532 11688325 SNTA1 syntrophin alpha 1 gene DOID:1824 status epilepticus ISO RGD:1307068 D RGD:9068941 20200609 RGD protein:decreased expression:piriform cortex PMID:20886625|REF_RGD_ID:5148023 11688325 SNTA1 syntrophin alpha 1 gene DOID:1824 status epilepticus ISO RGD:1316039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20886625 11688325 SNTA1 syntrophin alpha 1 gene DOID:2843 long QT syndrome ISO RGD:1316039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:16199547|PMID:17576681|PMID:18591664|PMID:19684871|PMID:20009079|PMID:22378279|PMID:22584458|PMID:23376825|PMID:23465283|PMID:23631430|PMID:23834499|PMID:23861362|PMID:24014171|PMID:24319568|PMID:24981977|PMID:25395996|PMID:25650408|PMID:25741868|PMID:25864170|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26220970|PMID:27028743|PMID:27231019|PMID:28074886|PMID:28166811|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28837624|PMID:29247119|PMID:29343803|PMID:29806494|PMID:30403391|PMID:30471092|PMID:30615648|PMID:30847666|PMID:30975432|PMID:31589614|PMID:31737537|PMID:32032478|PMID:9536098 11688325 SNTA1 syntrophin alpha 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1316039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:23631430|PMID:28492532 11688325 SNTA1 syntrophin alpha 1 gene DOID:630 genetic disease ISO RGD:1316039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688325 SNTA1 syntrophin alpha 1 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1316039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation 11688325 SNTA1 syntrophin alpha 1 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1316039 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:26220970|PMID:28492532 11688325 SNTA1 syntrophin alpha 1 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1316039 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:25741868|PMID:28492532|PMID:28837624 11688325 SNTA1 syntrophin alpha 1 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1316039 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:25741868|PMID:28492532|PMID:28837624|PMID:30847666 11688325 SNTA1 syntrophin alpha 1 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1316039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:20009079|PMID:24319568|PMID:25650408|PMID:25741868|PMID:28492532|PMID:29343803 11688325 SNTA1 syntrophin alpha 1 gene DOID:9007 sudden infant death syndrome susceptibility ISO RGD:1316039 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple PMID:20009079|REF_RGD_ID:6771369 11688325 SNTA1 syntrophin alpha 1 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:1316039 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:28492532 11688325 SNTA1 syntrophin alpha 1 gene DOID:9883 Becker muscular dystrophy ISO RGD:1316039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type PMID:25741868|PMID:28492532 11688337 TNFAIP6 TNF alpha induced protein 6 gene DOID:11382 corneal neovascularization treatment ISO RGD:1345645 D RGD:9068941 20200609 RGD PMID:20837529|REF_RGD_ID:7777186 11688337 TNFAIP6 TNF alpha induced protein 6 gene DOID:3042 allergic contact dermatitis ISO RGD:1345645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404|PMID:17374397 11688337 TNFAIP6 TNF alpha induced protein 6 gene DOID:3310 atopic dermatitis ISO RGD:1345645 D RGD:9068941 20200609 RGD mRNA:altered expression:fibroblast PMID:16650051|REF_RGD_ID:7777183 11688337 TNFAIP6 TNF alpha induced protein 6 gene DOID:3525 middle cerebral artery infarction ISO RGD:1345645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 11688337 TNFAIP6 TNF alpha induced protein 6 gene DOID:37 skin disease ISO RGD:1345645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11688337 TNFAIP6 TNF alpha induced protein 6 gene DOID:4251 conjunctival disease ISO RGD:1345645 D RGD:9068941 20200609 RGD PMID:22297496|REF_RGD_ID:7777184 11688337 TNFAIP6 TNF alpha induced protein 6 gene DOID:630 genetic disease ISO RGD:1345645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688337 TNFAIP6 TNF alpha induced protein 6 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1345645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11688337 TNFAIP6 TNF alpha induced protein 6 gene DOID:9001488 Human Influenza ISO RGD:1345645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11688337 TNFAIP6 TNF alpha induced protein 6 gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:621359 D RGD:9068941 20200609 RGD PMID:22912904|REF_RGD_ID:7777188 11688337 TNFAIP6 TNF alpha induced protein 6 gene DOID:9004610 Acute Lung Injury ISO RGD:1345645 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26313688 11688337 TNFAIP6 TNF alpha induced protein 6 gene DOID:9005372 Inflammation treatment ISO RGD:1345645 D RGD:9068941 20200609 RGD associated with Corneal Diseases PMID:21837654|REF_RGD_ID:7777185 11688337 TNFAIP6 TNF alpha induced protein 6 gene DOID:9007964 Arsenic Poisoning ISO RGD:1345645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11688337 TNFAIP6 TNF alpha induced protein 6 gene DOID:9008606 Corneal Opacity treatment ISO RGD:1345645 D RGD:9068941 20200609 RGD PMID:20837529|REF_RGD_ID:7777186 11688393 MSMB microseminoprotein beta gene DOID:10283 prostate cancer ISO RGD:69209 D RGD:9068941 20220825 MouseDO OMIM:176807 | OMIM:300147 | OMIM:300704 | OMIM:601518 | OMIM:602759 | OMIM:608656 | OMIM:608658 | OMIM:609299 | OMIM:609558 | OMIM:610321 | OMIM:610997 | OMIM:611100 | OMIM:611868 | OMIM:611928 | OMIM:611955 | OMIM:611958 | OMIM:611959 11688393 MSMB microseminoprotein beta gene DOID:11372 megacolon ISO RGD:69208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11688393 MSMB microseminoprotein beta gene DOID:630 genetic disease ISO RGD:69208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688393 MSMB microseminoprotein beta gene DOID:9002015 Prostate Cancer, Hereditary, 13 ISO RGD:69208 D RGD:7240710 20180130 OMIM 11688393 MSMB microseminoprotein beta gene DOID:9002015 Prostate Cancer, Hereditary, 13 ISO RGD:69208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 13 PMID:18264096|PMID:18264097|PMID:19153072|PMID:19383797|PMID:19644707 11688393 MSMB microseminoprotein beta gene DOID:9002304 Prostatic Neoplasms ISO RGD:69208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881|PMID:18264096|PMID:18264097 11688404 ZMYM5 zinc finger MYM-type containing 5 gene DOID:11612 polycystic ovary syndrome ISO RGD:1343268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11688404 ZMYM5 zinc finger MYM-type containing 5 gene DOID:630 genetic disease ISO RGD:1343268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688434 PDZD8 PDZ domain containing 8 gene DOID:630 genetic disease ISO RGD:1318503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688434 PDZD8 PDZ domain containing 8 gene DOID:9003701 Intellectual Developmental Disorder with Autism and Dysmorphic Facies ISO RGD:1318503 D RGD:7240710 20221116 OMIM 11688434 PDZD8 PDZ domain containing 8 gene DOID:9003701 Intellectual Developmental Disorder with Autism and Dysmorphic Facies ISO RGD:1318503 D RGD:8554872 20221115 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with autism and dysmorphic facies PMID:35227461 11688448 LACTB lactamase beta gene DOID:0110935 nemaline myopathy 6 ISO RGD:1312433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11688448 LACTB lactamase beta gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1312433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 11688448 LACTB lactamase beta gene DOID:2717 Bloom syndrome ISO RGD:1312433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11688448 LACTB lactamase beta gene DOID:630 genetic disease ISO RGD:1312433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688448 LACTB lactamase beta gene DOID:9256 colorectal cancer ISO RGD:1312433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11688448 LACTB lactamase beta gene DOID:9970 obesity ISO RGD:1312433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18344982 11688461 TMPRSS11A transmembrane serine protease 11A gene DOID:630 genetic disease ISO RGD:1605232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688461 TMPRSS11A transmembrane serine protease 11A gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1605232 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11688477 KRTDAP keratinocyte differentiation associated protein gene DOID:0110222 Brugada syndrome 5 ISO RGD:1603836 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11688477 KRTDAP keratinocyte differentiation associated protein gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1603836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11688477 KRTDAP keratinocyte differentiation associated protein gene DOID:543 dystonia ISO RGD:1603836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11688477 KRTDAP keratinocyte differentiation associated protein gene DOID:630 genetic disease ISO RGD:1603836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688488 PITX3 paired like homeodomain 3 gene DOID:0060648 anterior segment dysgenesis ISO RGD:732297 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:18989383|PMID:9620774 11688488 PITX3 paired like homeodomain 3 gene DOID:0060648 anterior segment dysgenesis ISO RGD:732297 D RGD:9068941 20220512 RGD DNA:insertion:exon:c.657ins17bp PMID:18989383|REF_RGD_ID:11535067 11688488 PITX3 paired like homeodomain 3 gene DOID:0060648 anterior segment dysgenesis ISO RGD:736766 D RGD:9068941 20221027 MouseDO 11688488 PITX3 paired like homeodomain 3 gene DOID:0080606 anterior segment dysgenesis 1 ISO RGD:732297 D RGD:7240710 20190327 OMIM 11688488 PITX3 paired like homeodomain 3 gene DOID:0080606 anterior segment dysgenesis 1 ISO RGD:732297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES | ClinVar Annotator: match by term: Anterior segment dysgenesis 1 PMID:10361984|PMID:15286169|PMID:17888164|PMID:18989383|PMID:24555714|PMID:25741868|PMID:28492532|PMID:29405783|PMID:6801987|PMID:9620774 11688488 PITX3 paired like homeodomain 3 gene DOID:0110249 cataract 11 multiple types ISO RGD:732297 D RGD:7240710 20180130 OMIM 11688488 PITX3 paired like homeodomain 3 gene DOID:0110249 cataract 11 multiple types ISO RGD:732297 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cataract 11 multiple types | ClinVar Annotator: match by term: Cataract 11, posterior polar PMID:10361984|PMID:15286169|PMID:16565358|PMID:17888164|PMID:18989383|PMID:24555714|PMID:25741868|PMID:28492532|PMID:29405783|PMID:6801987|PMID:9620774 11688488 PITX3 paired like homeodomain 3 gene DOID:0110266 cataract 9 multiple types ISO RGD:732297 D RGD:9068941 20200609 RGD DNA:missense mutation, insertion:cds:p.S13N, G219fsX226 (human) PMID:9620774|REF_RGD_ID:737764 11688488 PITX3 paired like homeodomain 3 gene DOID:10629 microphthalmia ISO RGD:732297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16565358 11688488 PITX3 paired like homeodomain 3 gene DOID:10629 microphthalmia ISO RGD:736766 D RGD:9068941 20200609 RGD DNA:nonsense mutation:cl444C>A(mouse) PMID:25347445|REF_RGD_ID:11535071 11688488 PITX3 paired like homeodomain 3 gene DOID:14330 Parkinson's disease ISO RGD:736766 D RGD:9068941 20200609 RGD PMID:18573342|REF_RGD_ID:11535079 11688488 PITX3 paired like homeodomain 3 gene DOID:14330 Parkinson's disease ISO RGD:736766 D RGD:9068941 20220825 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 11688488 PITX3 paired like homeodomain 3 gene DOID:630 genetic disease ISO RGD:732297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688488 PITX3 paired like homeodomain 3 gene DOID:83 cataract ISO RGD:732297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 11688488 PITX3 paired like homeodomain 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 11688488 PITX3 paired like homeodomain 3 gene DOID:9003814 Neurologic Manifestations ISO RGD:732297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16565358 11688488 PITX3 paired like homeodomain 3 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:732297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 11688488 PITX3 paired like homeodomain 3 gene DOID:9005728 Posterior Polar Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities ISO RGD:732297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities PMID:15286169|PMID:16565358 11688488 PITX3 paired like homeodomain 3 gene DOID:9008804 Aphakia ISO RGD:736766 D RGD:9068941 20200609 RGD DNA:deletions:promoter, cds: PMID:11247667|REF_RGD_ID:11535075 11688488 PITX3 paired like homeodomain 3 gene DOID:9008804 Aphakia ISO RGD:736766 D RGD:9068941 20200609 RGD DNA:nonsense mutation:cl444C>A(mouse) PMID:25347445|REF_RGD_ID:11535071 11688496 NT5DC4 5'-nucleotidase domain containing 4 gene DOID:0112194 Filippi syndrome ISO RGD:1603155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Filippi syndrome PMID:25741868|PMID:28492532 11688496 NT5DC4 5'-nucleotidase domain containing 4 gene DOID:630 genetic disease ISO RGD:1603155 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11688517 EID2B EP300 interacting inhibitor of differentiation 2B gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1603273 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11688517 EID2B EP300 interacting inhibitor of differentiation 2B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11688517 EID2B EP300 interacting inhibitor of differentiation 2B gene DOID:1342 congenital hypoplastic anemia ISO RGD:1603273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11688517 EID2B EP300 interacting inhibitor of differentiation 2B gene DOID:2340 craniosynostosis ISO RGD:1603273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11688517 EID2B EP300 interacting inhibitor of differentiation 2B gene DOID:630 genetic disease ISO RGD:1603273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688517 EID2B EP300 interacting inhibitor of differentiation 2B gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1603273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11688517 EID2B EP300 interacting inhibitor of differentiation 2B gene DOID:9269 maple syrup urine disease ISO RGD:1603273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11688517 EID2B EP300 interacting inhibitor of differentiation 2B gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603273 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11688522 CCDC9B coiled-coil domain containing 9B gene DOID:2717 Bloom syndrome ISO RGD:1602266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11688522 CCDC9B coiled-coil domain containing 9B gene DOID:9256 colorectal cancer ISO RGD:1602266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11688541 DNASE2B deoxyribonuclease 2 beta gene DOID:630 genetic disease ISO RGD:1607010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688541 DNASE2B deoxyribonuclease 2 beta gene DOID:83 cataract ISO RGD:1332002 D RGD:9068941 20220825 MouseDO OMIM:601371 11688551 HINT1 histidine triad nucleotide binding protein 1 gene DOID:0050526 Gamstorp-Wohlfart syndrome ISO RGD:1606034 D RGD:7240710 20180130 OMIM 11688551 HINT1 histidine triad nucleotide binding protein 1 gene DOID:0050526 Gamstorp-Wohlfart syndrome ISO RGD:1606034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive axonal neuropathy with neuromyotonia PMID:16199547|PMID:16835243|PMID:17576681|PMID:1851512|PMID:22961002|PMID:24105373|PMID:25342199|PMID:25741868|PMID:26059562|PMID:26182879|PMID:27549087|PMID:28492532|PMID:29787766|PMID:31088288|PMID:31400136|PMID:31673878|PMID:31832804|PMID:31848916|PMID:33369814|PMID:33663550|PMID:34694653|PMID:9536098 11688551 HINT1 histidine triad nucleotide binding protein 1 gene DOID:0050742 nicotine dependence ISO RGD:1606034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20514075 11688551 HINT1 histidine triad nucleotide binding protein 1 gene DOID:0080000 muscular disease ISO RGD:1606034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22961002 11688551 HINT1 histidine triad nucleotide binding protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606034 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11688551 HINT1 histidine triad nucleotide binding protein 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1606034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:22961002|PMID:24105373|PMID:25342199|PMID:25741868|PMID:28492532|PMID:29787766|PMID:31673878 11688551 HINT1 histidine triad nucleotide binding protein 1 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1606034 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:28492532 11688551 HINT1 histidine triad nucleotide binding protein 1 gene DOID:5419 schizophrenia ISO RGD:1606034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17203012|PMID:20514075 11688551 HINT1 histidine triad nucleotide binding protein 1 gene DOID:574 peripheral nervous system disease ISO RGD:1606034 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:22961002|PMID:25342199|PMID:25741868|PMID:26182879|PMID:27549087|PMID:28492532|PMID:29787766|PMID:34694653 11688551 HINT1 histidine triad nucleotide binding protein 1 gene DOID:630 genetic disease ISO RGD:1606034 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1851512|PMID:22961002|PMID:25342199|PMID:25741868|PMID:26182879|PMID:27549087|PMID:28492532|PMID:29787766|PMID:31832804|PMID:34694653 11688551 HINT1 histidine triad nucleotide binding protein 1 gene DOID:7319 axonal neuropathy ISO RGD:1606034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensory axonal neuropathy 11688551 HINT1 histidine triad nucleotide binding protein 1 gene DOID:870 neuropathy ISO RGD:1606034 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:22961002|PMID:25342199|PMID:25741868|PMID:26182879|PMID:27549087|PMID:28492532|PMID:29787766|PMID:34694653 11688551 HINT1 histidine triad nucleotide binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11688551 HINT1 histidine triad nucleotide binding protein 1 gene DOID:9006079 Inherited Peripheral Neuropathy ISO RGD:1606034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22961002 11688551 HINT1 histidine triad nucleotide binding protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606034 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11688558 MROH8 maestro heat like repeat family member 8 gene DOID:2234 focal epilepsy ISO RGD:1352113 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11688558 MROH8 maestro heat like repeat family member 8 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1352113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:28492532 11688558 MROH8 maestro heat like repeat family member 8 gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1352113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 11688589 OS9 OS9 endoplasmic reticulum lectin gene DOID:630 genetic disease ISO RGD:1605693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688589 OS9 OS9 endoplasmic reticulum lectin gene DOID:6846 familial melanoma ISO RGD:1605693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 11688619 YBEY ybeY metalloendoribonuclease gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1318661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11688619 YBEY ybeY metalloendoribonuclease gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1318661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 11688619 YBEY ybeY metalloendoribonuclease gene DOID:0110266 cataract 9 multiple types ISO RGD:1318661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11688619 YBEY ybeY metalloendoribonuclease gene DOID:12849 autistic disorder ISO RGD:1318661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11688619 YBEY ybeY metalloendoribonuclease gene DOID:630 genetic disease ISO RGD:1318661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688619 YBEY ybeY metalloendoribonuclease gene DOID:891 progressive myoclonus epilepsy ISO RGD:1318661 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11688619 YBEY ybeY metalloendoribonuclease gene DOID:9263 homocystinuria ISO RGD:1318661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11688619 YBEY ybeY metalloendoribonuclease gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11688638 MARK3 microtubule affinity regulating kinase 3 gene DOID:0070356 visual impairment and progressive phthisis bulbi ISO RGD:1353156 D RGD:7240710 20190724 OMIM 11688638 MARK3 microtubule affinity regulating kinase 3 gene DOID:0070356 visual impairment and progressive phthisis bulbi ISO RGD:1353156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visual impairment and progressive phthisis bulbi PMID:25741868|PMID:29771303 11688638 MARK3 microtubule affinity regulating kinase 3 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1353156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11688638 MARK3 microtubule affinity regulating kinase 3 gene DOID:630 genetic disease ISO RGD:1353156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688638 MARK3 microtubule affinity regulating kinase 3 gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1353156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 11688677 RNF185 ring finger protein 185 gene DOID:630 genetic disease ISO RGD:1602840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688697 DCAKD dephospho-CoA kinase domain containing gene DOID:630 genetic disease ISO RGD:1602678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688713 NDFIP1 Nedd4 family interacting protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1320732 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11688713 NDFIP1 Nedd4 family interacting protein 1 gene DOID:630 genetic disease ISO RGD:1320732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688713 NDFIP1 Nedd4 family interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11688713 NDFIP1 Nedd4 family interacting protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 11688713 NDFIP1 Nedd4 family interacting protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320732 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11688713 NDFIP1 Nedd4 family interacting protein 1 gene DOID:9007096 Stroke ISO RGD:1310053 D RGD:9068941 20200609 RGD PMID:22417925|REF_RGD_ID:6893327 11688727 PKP2 plakophilin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22036071|PMID:22085907|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23973953|PMID:24033266|PMID:24055113|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24704780|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25163546|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25857910|PMID:25979592|PMID:26264440|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:26850880|PMID:27153395|PMID:27194543|PMID:27335691|PMID:27532257|PMID:27727376|PMID:27930701|PMID:28069705|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28611399|PMID:28705875|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29288195|PMID:29582136|PMID:29802319|PMID:29940860|PMID:29997227|PMID:30161220|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30562116|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30677492|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30847666|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31638835|PMID:31702781|PMID:31737537|PMID:32183154|PMID:32372669|PMID:32522011|PMID:32600061|PMID:33087929|PMID:33232181|PMID:35535697 11688727 PKP2 plakophilin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1315204 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20525856|PMID:20603720|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22036071|PMID:22085907|PMID:22177269|PMID:22214898|PMID:22458570|PMID:22781308|PMID:23085127|PMID:23137101|PMID:23178689|PMID:23183494|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23863954|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24618965|PMID:24704780|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25163546|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25611685|PMID:25616645|PMID:25637381|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25857910|PMID:25979592|PMID:26138720|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:26850880|PMID:27153395|PMID:27194543|PMID:27335691|PMID:27532257|PMID:27650965|PMID:27727376|PMID:27831900|PMID:27930701|PMID:28069705|PMID:28166282|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28611399|PMID:28705875|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29221435|PMID:29288195|PMID:29582136|PMID:29606362|PMID:29802319|PMID:29915097|PMID:29940860|PMID:29997227|PMID:30161220|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30562116|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30677492|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30847666|PMID:31156706|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31638835|PMID:31702781|PMID:31737537|PMID:32183154|PMID:32372669|PMID:32522011|PMID:32600061|PMID:33087929|PMID:33232181|PMID:33238575|PMID:34469894|PMID:35535697|PMID:35655036|PMID:9536098 11688727 PKP2 plakophilin 2 gene DOID:0050451 Brugada syndrome ISO RGD:1315204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:20400443|PMID:20857253|PMID:21378009|PMID:21606390|PMID:21636032|PMID:23137101|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24200904|PMID:24704780|PMID:25650408|PMID:25676813|PMID:25741868|PMID:27930701|PMID:28166282|PMID:28492532|PMID:29288195|PMID:33919104 11688727 PKP2 plakophilin 2 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis PMID:25351510|PMID:25741868|PMID:28492532|PMID:28600387|PMID:30847666 11688727 PKP2 plakophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:26887364|PMID:27000522|PMID:27005929|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27711072|PMID:27727376|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28431057|PMID:28471438|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29497013|PMID:29540472|PMID:29582136|PMID:29802319|PMID:29997227|PMID:30279520|PMID:30354609|PMID:30445427|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31319917|PMID:31333075|PMID:31402444|PMID:31539150|PMID:31568572|PMID:32906206|PMID:9536098 11688727 PKP2 plakophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:27000522|PMID:27005929|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27711072|PMID:27727376|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28431057|PMID:28471438|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29540472|PMID:29582136|PMID:29802319|PMID:29961461|PMID:29997227|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33232181|PMID:33919104|PMID:9536098 11688727 PKP2 plakophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:27000522|PMID:27005929|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27711072|PMID:27727376|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28431057|PMID:28471438|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29540472|PMID:29582136|PMID:29802319|PMID:29961461|PMID:29997227|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33232181|PMID:33919104|PMID:35535697|PMID:9536098 11688727 PKP2 plakophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:27000522|PMID:27005929|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27711072|PMID:27727376|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28431057|PMID:28471438|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29540472|PMID:29582136|PMID:29802319|PMID:29961461|PMID:29997227|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33232181|PMID:33919104|PMID:35535697|PMID:9536098 11688727 PKP2 plakophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23183494|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:27000522|PMID:27005929|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27711072|PMID:27727376|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28431057|PMID:28471438|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29540472|PMID:29582136|PMID:29802319|PMID:29961461|PMID:29997227|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33232181|PMID:33919104|PMID:35535697|PMID:9536098 11688727 PKP2 plakophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1315204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:17908752|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:20890277|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23183494|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24618965|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:26887364|PMID:27000522|PMID:27005929|PMID:27030002|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27650965|PMID:27697855|PMID:27711072|PMID:27727376|PMID:27831900|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29172153|PMID:29178656|PMID:29192238|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29456632|PMID:29497013|PMID:29540472|PMID:29582136|PMID:29606362|PMID:29802319|PMID:29915097|PMID:29961461|PMID:29997227|PMID:30260051|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30471092|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30678776|PMID:30685992|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31156706|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32397162|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33232181|PMID:33500567|PMID:33919104|PMID:34008892|PMID:34135346|PMID:34426522|PMID:34469894|PMID:34816084|PMID:35535697|PMID:9536098 11688727 PKP2 plakophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1315204 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:17908752|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:20890277|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23183494|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24618965|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:26887364|PMID:27000522|PMID:27005929|PMID:27030002|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27650965|PMID:27697855|PMID:27711072|PMID:27727376|PMID:27831900|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29172153|PMID:29178656|PMID:29192238|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29456632|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29582136|PMID:29606362|PMID:29802319|PMID:29915097|PMID:29961461|PMID:29997227|PMID:30260051|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30471092|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30678776|PMID:30685992|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31156706|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32397162|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33232181|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33919104|PMID:34008892|PMID:34120153|PMID:34135346|PMID:34426522|PMID:34469894|PMID:34816084|PMID:35535697|PMID:35655036|PMID:35932045|PMID:9536098 11688727 PKP2 plakophilin 2 gene DOID:0060224 atrial fibrillation ISO RGD:1315204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11688727 PKP2 plakophilin 2 gene DOID:0060480 left ventricular noncompaction ISO RGD:1315204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:21636032|PMID:22214898|PMID:23299917|PMID:24033266|PMID:25741868|PMID:28492532 11688727 PKP2 plakophilin 2 gene DOID:0060608 microcephalic osteodysplastic primordial dwarfism type I ISO RGD:1315204 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MOPD 1 PMID:24033266|PMID:25741868|PMID:28492532 11688727 PKP2 plakophilin 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1315204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20857253|PMID:21062920|PMID:21606390|PMID:22170284|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24352520|PMID:25395996|PMID:25741868|PMID:26676851|PMID:27085656|PMID:27711072|PMID:28341588|PMID:28492532|PMID:31539150 11688727 PKP2 plakophilin 2 gene DOID:0081164 dilated cardiomyopathy 3B ISO RGD:1315204 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 3B PMID:20400443|PMID:21378009|PMID:23861362|PMID:24033266|PMID:25650408|PMID:25676813|PMID:25741868|PMID:27930701|PMID:28166282|PMID:28492532|PMID:33919104 11688727 PKP2 plakophilin 2 gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:19863551|PMID:24704780|PMID:25741868|PMID:28492532 11688727 PKP2 plakophilin 2 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1315204 D RGD:7240710 20180130 OMIM 11688727 PKP2 plakophilin 2 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1315204 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16799251|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:17908752|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20525856|PMID:20573160|PMID:20603720|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:20890277|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22085907|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22458570|PMID:22781308|PMID:22889254|PMID:23085127|PMID:23137101|PMID:23178689|PMID:23183494|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23486541|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23863954|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24618965|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:24981977|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25326635|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25611685|PMID:25616645|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25857910|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26701096|PMID:26743238|PMID:26850880|PMID:26887364|PMID:27000522|PMID:27005929|PMID:27030002|PMID:27066507|PMID:27085656|PMID:27114410|PMID:27122407|PMID:27153395|PMID:27194543|PMID:27335691|PMID:27532257|PMID:27650965|PMID:27697855|PMID:27711072|PMID:27727376|PMID:27831900|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29038103|PMID:29099038|PMID:29128982|PMID:29172153|PMID:29178656|PMID:29192238|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29343803|PMID:29456632|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29582136|PMID:29606362|PMID:29802319|PMID:29915097|PMID:29940860|PMID:29961461|PMID:29997227|PMID:30161220|PMID:30260051|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30471092|PMID:30562116|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30678776|PMID:30685992|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:30985088|PMID:31156706|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31638835|PMID:31702781|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32397162|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33919104|PMID:34008892|PMID:34120153|PMID:34135346|PMID:34426522|PMID:34469894|PMID:34540771|PMID:34816084|PMID:35535697|PMID:35655036|PMID:35932045|PMID:9536098 11688727 PKP2 plakophilin 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20857253|PMID:21062920|PMID:21606390|PMID:22170284|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24352520|PMID:25395996|PMID:25741868|PMID:26676851|PMID:27085656|PMID:27711072|PMID:28166811|PMID:28341588|PMID:28492532|PMID:31539150 11688727 PKP2 plakophilin 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1315204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20857253|PMID:21062920|PMID:21606390|PMID:22170284|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24352520|PMID:25395996|PMID:25741868|PMID:26676851|PMID:27085656|PMID:27711072|PMID:28341588|PMID:28492532|PMID:31539150 11688727 PKP2 plakophilin 2 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1315204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 11688727 PKP2 plakophilin 2 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 11688727 PKP2 plakophilin 2 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1315204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 11688727 PKP2 plakophilin 2 gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1315204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:25741868 11688727 PKP2 plakophilin 2 gene DOID:0110461 X-linked dilated cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, X-LINKED PMID:20400443|PMID:21378009|PMID:23861362|PMID:24033266|PMID:25650408|PMID:25676813|PMID:25741868|PMID:27930701|PMID:28166282|PMID:28492532|PMID:33919104 11688727 PKP2 plakophilin 2 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1315204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:20400443|PMID:21378009|PMID:23861362|PMID:24033266|PMID:25650408|PMID:25676813|PMID:25741868|PMID:27930701|PMID:28166282|PMID:28492532|PMID:33919104 11688727 PKP2 plakophilin 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:16567567|PMID:17556197|PMID:19863551|PMID:19955750|PMID:20525856|PMID:20716751|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24352520|PMID:25163546|PMID:25637381|PMID:25741868|PMID:26498160|PMID:28301460|PMID:28492532|PMID:29802319|PMID:30445427 11688727 PKP2 plakophilin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:20400443|PMID:21378009|PMID:2163603|PMID:21636032|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25650408|PMID:25676813|PMID:25741868|PMID:26220970|PMID:26743238|PMID:27066507|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28492532|PMID:28750076|PMID:31333075|PMID:31568572|PMID:32906206|PMID:33919104 11688727 PKP2 plakophilin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1315204 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:20400443|PMID:21378009|PMID:2163603|PMID:21636032|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25650408|PMID:25676813|PMID:25741868|PMID:26220970|PMID:26743238|PMID:27066507|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28492532|PMID:28750076|PMID:31333075|PMID:31568572|PMID:32906206|PMID:33552729|PMID:33919104|PMID:35932045 11688727 PKP2 plakophilin 2 gene DOID:630 genetic disease ISO RGD:1315204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11688727 PKP2 plakophilin 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1315204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:15489853|PMID:16549640|PMID:16567567|PMID:17010805|PMID:19084810|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20829228|PMID:20857253|PMID:21301620|PMID:21606396|PMID:21723241|PMID:22177269|PMID:23178689|PMID:23354045|PMID:23810883|PMID:23871674|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24585727|PMID:24704780|PMID:24768880|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25971409|PMID:27532257|PMID:28097316|PMID:28341588|PMID:28492532|PMID:28588093|PMID:29221435|PMID:30562116 11688727 PKP2 plakophilin 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:25351510|PMID:25741868|PMID:28492532|PMID:28600387|PMID:30847666 11688727 PKP2 plakophilin 2 gene DOID:9000299 cardiac amyloidosis ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY PMID:25351510|PMID:25741868|PMID:28492532|PMID:28600387|PMID:30847666 11688727 PKP2 plakophilin 2 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1315204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:15489853|PMID:25741868|PMID:28492532|PMID:34540771 11688727 PKP2 plakophilin 2 gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial amyloid polyneuropathy PMID:25351510|PMID:25741868|PMID:28492532|PMID:28600387|PMID:30847666 11688727 PKP2 plakophilin 2 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:17010805|PMID:20400443|PMID:23183494|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26230511|PMID:27085656|PMID:28492532|PMID:29172153|PMID:29288195 11688727 PKP2 plakophilin 2 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1315204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:20400443|PMID:20857253|PMID:21378009|PMID:21606390|PMID:21636032|PMID:23137101|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24200904|PMID:24704780|PMID:25650408|PMID:25676813|PMID:25741868|PMID:27930701|PMID:28166282|PMID:28492532|PMID:29288195|PMID:33919104 11688727 PKP2 plakophilin 2 gene DOID:9003163 Heart Block ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:17010805|PMID:20400443|PMID:23183494|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26230511|PMID:27085656|PMID:28492532|PMID:29172153|PMID:29288195 11688727 PKP2 plakophilin 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1315204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:15489853|PMID:16101641|PMID:16549640|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17521752|PMID:18382419|PMID:19279339|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20857253|PMID:21606396|PMID:21636032|PMID:21859740|PMID:22781308|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:24033266|PMID:24503780|PMID:24585727|PMID:25163546|PMID:25637381|PMID:25741868|PMID:25825243|PMID:25979592|PMID:26743238|PMID:27153395|PMID:28255936|PMID:28492532|PMID:29099038|PMID:29247119|PMID:29802319|PMID:29997227|PMID:30656044|PMID:30764827|PMID:30790397 11688727 PKP2 plakophilin 2 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:1315204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction PMID:20857253|PMID:21606390|PMID:21636032|PMID:23137101|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24200904|PMID:24704780|PMID:25741868|PMID:28492532|PMID:29288195 11688727 PKP2 plakophilin 2 gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:1315204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:25741868|PMID:28492532 11688727 PKP2 plakophilin 2 gene DOID:9007820 Sudden Death ISO RGD:1315204 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:15489853|PMID:17010805|PMID:20400443|PMID:23183494|PMID:23911551|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30571190|PMID:30677492|PMID:30678776|PMID:30700137|PMID:30790397|PMID:34135346 11688727 PKP2 plakophilin 2 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:25741868|PMID:27532257|PMID:28492532|PMID:29802319|PMID:31402444 11688727 PKP2 plakophilin 2 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:1315204 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:25741868|PMID:28492532 11688727 PKP2 plakophilin 2 gene DOID:9883 Becker muscular dystrophy ISO RGD:1315204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type PMID:20400443|PMID:21378009|PMID:23861362|PMID:24033266|PMID:25650408|PMID:25676813|PMID:25741868|PMID:27930701|PMID:28166282|PMID:28492532|PMID:33919104 11688743 B4GALT5 beta-1,4-galactosyltransferase 5 gene DOID:0080600 COVID-19 ISO RGD:1320747 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11688743 B4GALT5 beta-1,4-galactosyltransferase 5 gene DOID:2377 multiple sclerosis ISO RGD:1320747 D RGD:9068941 20200609 RGD mRNA:increased expression:white matter PMID:25216636|REF_RGD_ID:14390079 11688743 B4GALT5 beta-1,4-galactosyltransferase 5 gene DOID:630 genetic disease ISO RGD:1320747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688743 B4GALT5 beta-1,4-galactosyltransferase 5 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1320747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11688743 B4GALT5 beta-1,4-galactosyltransferase 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11688762 GDE1 glycerophosphodiester phosphodiesterase 1 gene DOID:630 genetic disease ISO RGD:734410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688772 PKNOX2 PBX/knotted 1 homeobox 2 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1348448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11688772 PKNOX2 PBX/knotted 1 homeobox 2 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1348448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11688772 PKNOX2 PBX/knotted 1 homeobox 2 gene DOID:5419 schizophrenia ISO RGD:1348448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11688772 PKNOX2 PBX/knotted 1 homeobox 2 gene DOID:630 genetic disease ISO RGD:1348448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688772 PKNOX2 PBX/knotted 1 homeobox 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1348448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11688772 PKNOX2 PBX/knotted 1 homeobox 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1348448 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11688772 PKNOX2 PBX/knotted 1 homeobox 2 gene DOID:9007661 Dwarfism ISO RGD:1348448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11688812 C6H6orf52 chromosome 6 C6orf52 homolog gene DOID:0110242 cataract 13 with adult i phenotype ISO RGD:1348700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 13 with adult I phenotype PMID:28492532 11688812 C6H6orf52 chromosome 6 C6orf52 homolog gene DOID:630 genetic disease ISO RGD:1348700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688821 TRAF1 TNF receptor associated factor 1 gene DOID:13832 patent ductus arteriosus ISO RGD:1351243 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19336370 11688821 TRAF1 TNF receptor associated factor 1 gene DOID:2377 multiple sclerosis ISO RGD:1351243 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 11688821 TRAF1 TNF receptor associated factor 1 gene DOID:630 genetic disease ISO RGD:1351243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688821 TRAF1 TNF receptor associated factor 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1351243 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18794853|PMID:23143596 11688821 TRAF1 TNF receptor associated factor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351243 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11688821 TRAF1 TNF receptor associated factor 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:1351243 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11688839 PHGDH phosphoglycerate dehydrogenase gene DOID:0050722 PHGDH deficiency ISO RGD:737224 D RGD:7240710 20180130 OMIM 11688839 PHGDH phosphoglycerate dehydrogenase gene DOID:0050722 PHGDH deficiency ISO RGD:737224 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:11034457|PMID:11055895|PMID:11751922|PMID:14645240|PMID:16199547|PMID:17576681|PMID:19235232|PMID:20196394|PMID:21113737|PMID:22393170|PMID:22886422|PMID:24836451|PMID:25152457|PMID:25741868|PMID:25913727|PMID:26467025|PMID:26610677|PMID:26960553|PMID:28135894|PMID:28252636|PMID:28492532|PMID:28903583|PMID:29018476|PMID:29286531|PMID:29703746|PMID:30214071|PMID:30348640|PMID:30838783|PMID:31847883|PMID:32404165|PMID:32579715|PMID:33087887|PMID:33758422|PMID:34055682|PMID:9536098 11688839 PHGDH phosphoglycerate dehydrogenase gene DOID:0080076 Neu-Laxova syndrome 1 ISO RGD:737224 D RGD:7240710 20180130 OMIM 11688839 PHGDH phosphoglycerate dehydrogenase gene DOID:0080076 Neu-Laxova syndrome 1 ISO RGD:737224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neu-Laxova syndrome 1 PMID:11034457|PMID:11055895|PMID:14645240|PMID:16199547|PMID:19235232|PMID:20196394|PMID:22393170|PMID:24836451|PMID:25152457|PMID:25741868|PMID:26467025|PMID:26960553|PMID:28492532|PMID:29018476|PMID:32404165|PMID:33758422 11688839 PHGDH phosphoglycerate dehydrogenase gene DOID:0081168 HMG-CoA synthase 2 deficiency ISO RGD:737224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency 11688839 PHGDH phosphoglycerate dehydrogenase gene DOID:1826 epilepsy ISO RGD:737224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:14645240|PMID:16199547|PMID:24836451|PMID:25741868|PMID:28492532|PMID:29286531|PMID:29703746 11688839 PHGDH phosphoglycerate dehydrogenase gene DOID:1909 melanoma ISO RGD:737224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21804546 11688839 PHGDH phosphoglycerate dehydrogenase gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:737224 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 11688839 PHGDH phosphoglycerate dehydrogenase gene DOID:3908 lung non-small cell carcinoma ISO RGD:737224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26482881 11688839 PHGDH phosphoglycerate dehydrogenase gene DOID:630 genetic disease ISO RGD:737224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22393170|PMID:25741868|PMID:28492532|PMID:29286531|PMID:31847883|PMID:33758422 11688839 PHGDH phosphoglycerate dehydrogenase gene DOID:9002304 Prostatic Neoplasms ISO RGD:737224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11688839 PHGDH phosphoglycerate dehydrogenase gene DOID:9007188 Liver Neoplasms ISO RGD:737224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 11688839 PHGDH phosphoglycerate dehydrogenase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21804546 11688839 PHGDH phosphoglycerate dehydrogenase gene DOID:9008939 Breast Neoplasms ISO RGD:737224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21804546 11688839 PHGDH phosphoglycerate dehydrogenase gene DOID:9252 amino acid metabolic disorder ISO RGD:737224 D RGD:9068941 20200609 RGD PHGDH deficiency, OMIM:601815, DNA:point mutation:exon:V490M PMID:11055895|REF_RGD_ID:1600412 11688856 ARHGAP29 Rho GTPase activating protein 29 gene DOID:0050746 mantle cell lymphoma ISO RGD:1606326 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17488656 11688856 ARHGAP29 Rho GTPase activating protein 29 gene DOID:0080600 COVID-19 ISO RGD:1606326 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11688856 ARHGAP29 Rho GTPase activating protein 29 gene DOID:0110213 isolated cleft palate ISO RGD:1606326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated cleft palate PMID:25741868 11688856 ARHGAP29 Rho GTPase activating protein 29 gene DOID:630 genetic disease ISO RGD:1606326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688856 ARHGAP29 Rho GTPase activating protein 29 gene DOID:9296 cleft lip ISO RGD:1606326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate PMID:25741868 11688889 GJD2 gap junction protein delta 2 gene DOID:0110317 hypertrophic cardiomyopathy 11 ISO RGD:733205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 PMID:18458017|PMID:27125413|PMID:28492532 11688889 GJD2 gap junction protein delta 2 gene DOID:11830 myopia ISO RGD:733205 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 11688889 GJD2 gap junction protein delta 2 gene DOID:2717 Bloom syndrome ISO RGD:733205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11688889 GJD2 gap junction protein delta 2 gene DOID:630 genetic disease ISO RGD:733205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688889 GJD2 gap junction protein delta 2 gene DOID:9004756 Brain Hypoxia ISO RGD:2694 D RGD:9068941 20200609 RGD PMID:20034754|REF_RGD_ID:7364784 11688889 GJD2 gap junction protein delta 2 gene DOID:9256 colorectal cancer ISO RGD:733205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11688889 GJD2 gap junction protein delta 2 gene DOID:9835 refractive error ISO RGD:733205 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20835239 11688900 TELO2 telomere maintenance 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1605097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 11688900 TELO2 telomere maintenance 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605097 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532|PMID:29688594 11688900 TELO2 telomere maintenance 2 gene DOID:10907 microcephaly ISO RGD:1605097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11688900 TELO2 telomere maintenance 2 gene DOID:1826 epilepsy ISO RGD:1605097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11688900 TELO2 telomere maintenance 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11688900 TELO2 telomere maintenance 2 gene DOID:630 genetic disease ISO RGD:1605097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11688900 TELO2 telomere maintenance 2 gene DOID:9008826 YOU-HOOVER-FONG SYNDROME ISO RGD:1605097 D RGD:7240710 20190315 OMIM 11688900 TELO2 telomere maintenance 2 gene DOID:9008826 YOU-HOOVER-FONG SYNDROME ISO RGD:1605097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: TELO2-related intellectual disability-neurodevelopmental disorder PMID:24033266|PMID:25741868|PMID:27132593|PMID:28492532|PMID:32940098 11688925 PSMB11 proteasome subunit beta 11 gene DOID:0060439 lysinuric protein intolerance ISO RGD:2291820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11688925 PSMB11 proteasome subunit beta 11 gene DOID:630 genetic disease ISO RGD:2291820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688925 PSMB11 proteasome subunit beta 11 gene DOID:9000265 Specific Granule Deficiency ISO RGD:2291820 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11688925 PSMB11 proteasome subunit beta 11 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:2291820 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11688930 KCTD5 potassium channel tetramerization domain containing 5 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1312748 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11688930 KCTD5 potassium channel tetramerization domain containing 5 gene DOID:1826 epilepsy ISO RGD:1312748 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11688930 KCTD5 potassium channel tetramerization domain containing 5 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1312748 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11688930 KCTD5 potassium channel tetramerization domain containing 5 gene DOID:630 genetic disease ISO RGD:1312748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11688941 DOCK7 dedicator of cytokinesis 7 gene DOID:0080415 developmental and epileptic encephalopathy 23 ISO RGD:1352133 D RGD:7240710 20180130 OMIM 11688941 DOCK7 dedicator of cytokinesis 7 gene DOID:0080415 developmental and epileptic encephalopathy 23 ISO RGD:1352133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 PMID:16199547|PMID:17576681|PMID:24814191|PMID:25363768|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31175295|PMID:31785789|PMID:9536098 11688941 DOCK7 dedicator of cytokinesis 7 gene DOID:0111061 familial hypobetalipoproteinemia 2 ISO RGD:1352133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2 PMID:19075393|PMID:20942659|PMID:22062970|PMID:22247256|PMID:28492532|PMID:32041611 11688941 DOCK7 dedicator of cytokinesis 7 gene DOID:0111376 fetal akinesia deformation sequence syndrome 3 ISO RGD:1352133 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 PMID:25741868 11688941 DOCK7 dedicator of cytokinesis 7 gene DOID:1059 intellectual disability ISO RGD:1352133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11688941 DOCK7 dedicator of cytokinesis 7 gene DOID:1826 epilepsy ISO RGD:1352133 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11688941 DOCK7 dedicator of cytokinesis 7 gene DOID:2223 platelet storage pool deficiency ISO RGD:1320319 D RGD:9068941 20220825 MouseDO OMIM:185050 11688941 DOCK7 dedicator of cytokinesis 7 gene DOID:630 genetic disease ISO RGD:1352133 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32041611|PMID:9536098 11688941 DOCK7 dedicator of cytokinesis 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11689010 TM4SF18 transmembrane 4 L six family member 18 gene DOID:0050579 glycogen storage disease XV ISO RGD:1605011 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 11689010 TM4SF18 transmembrane 4 L six family member 18 gene DOID:630 genetic disease ISO RGD:1605011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11689021 NCCRP1 NCCRP1, F-box associated domain containing gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1602046 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11689021 NCCRP1 NCCRP1, F-box associated domain containing gene DOID:630 genetic disease ISO RGD:1602046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11689021 NCCRP1 NCCRP1, F-box associated domain containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:1602046 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11689032 STK3 serine/threonine kinase 3 gene DOID:0111590 Cohen syndrome ISO RGD:732933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 11689032 STK3 serine/threonine kinase 3 gene DOID:630 genetic disease ISO RGD:732933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11689061 LOC103785871 late cornified envelope protein 4A gene DOID:0111940 immunodeficiency 42 ISO RGD:1345430 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11689061 LOC103785871 late cornified envelope protein 4A gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1345430 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11689061 LOC103785871 late cornified envelope protein 4A gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1345430 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11689061 LOC103785871 late cornified envelope protein 4A gene DOID:1540 parathyroid carcinoma ISO RGD:1345430 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11689061 LOC103785871 late cornified envelope protein 4A gene DOID:5812 MHC class II deficiency ISO RGD:1345430 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11689061 LOC103785871 late cornified envelope protein 4A gene DOID:630 genetic disease ISO RGD:1345430 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11689061 LOC103785871 late cornified envelope protein 4A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345430 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11689087 FOXE1 forkhead box E1 gene DOID:0050328 congenital hypothyroidism ISO RGD:735500 D RGD:9068941 20220825 MouseDO 11689087 FOXE1 forkhead box E1 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:735499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 11689087 FOXE1 forkhead box E1 gene DOID:0050655 Bamforth-Lazarus syndrome ISO RGD:735499 D RGD:7240710 20180130 OMIM 11689087 FOXE1 forkhead box E1 gene DOID:0050655 Bamforth-Lazarus syndrome ISO RGD:735499 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bamforth-Lazarus syndrome PMID:12165566|PMID:16882747|PMID:21177256|PMID:25381600|PMID:25741868|PMID:28492532|PMID:2918525|PMID:35963604|PMID:9697705 11689087 FOXE1 forkhead box E1 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:735499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 11689087 FOXE1 forkhead box E1 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:735499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 11689087 FOXE1 forkhead box E1 gene DOID:1059 intellectual disability ISO RGD:735499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11689087 FOXE1 forkhead box E1 gene DOID:12712 nephronophthisis ISO RGD:735499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 11689087 FOXE1 forkhead box E1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:735499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 11689087 FOXE1 forkhead box E1 gene DOID:630 genetic disease ISO RGD:735499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11689087 FOXE1 forkhead box E1 gene DOID:9001793 Generalized Epilepsy ISO RGD:735499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 11689087 FOXE1 forkhead box E1 gene DOID:9003422 Thyroid Cancer, Nonmedullary, 4 ISO RGD:735499 D RGD:7240710 20180418 OMIM 11689087 FOXE1 forkhead box E1 gene DOID:9003422 Thyroid Cancer, Nonmedullary, 4 ISO RGD:735499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 4 PMID:25381600 11689092 ARL10 ADP ribosylation factor like GTPase 10 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1344087 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11689092 ARL10 ADP ribosylation factor like GTPase 10 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1344087 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11689092 ARL10 ADP ribosylation factor like GTPase 10 gene DOID:630 genetic disease ISO RGD:1344087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11689099 ZBBX zinc finger B-box domain containing gene DOID:630 genetic disease ISO RGD:1602864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11689123 LRIF1 ligand dependent nuclear receptor interacting factor 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1603986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11689123 LRIF1 ligand dependent nuclear receptor interacting factor 1 gene DOID:12849 autistic disorder ISO RGD:1603986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11689123 LRIF1 ligand dependent nuclear receptor interacting factor 1 gene DOID:630 genetic disease ISO RGD:1603986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11689123 LRIF1 ligand dependent nuclear receptor interacting factor 1 gene DOID:9005731 Facioscapulohumeral Muscular Dystrophy 3 ISO RGD:1603986 D RGD:7240710 20210825 OMIM 11689123 LRIF1 ligand dependent nuclear receptor interacting factor 1 gene DOID:9005731 Facioscapulohumeral Muscular Dystrophy 3 ISO RGD:1603986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 3, digenic PMID:32467133 11689154 C3H3orf38 chromosome 3 C3orf38 homolog gene DOID:630 genetic disease ISO RGD:1602632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11689165 MYLK3 myosin light chain kinase 3 gene DOID:0060897 Parkinson's disease 17 ISO RGD:1604762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease 17 PMID:28492532 11689165 MYLK3 myosin light chain kinase 3 gene DOID:0111041 glycogen storage disease IXb ISO RGD:1604762 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 11689165 MYLK3 myosin light chain kinase 3 gene DOID:630 genetic disease ISO RGD:1604762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11689201 RHCG Rh family C glycoprotein gene DOID:0050758 metabolic acidosis ISO RGD:727859 D RGD:9068941 20200609 RGD protein:increased expression:medulla, kidney collecting duct intercalated cell PMID:16144966|REF_RGD_ID:8554685 11689201 RHCG Rh family C glycoprotein gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1345053 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 11689201 RHCG Rh family C glycoprotein gene DOID:1074 kidney failure ISO RGD:727859 D RGD:9068941 20200609 RGD protein:altered localization PMID:17652373|REF_RGD_ID:9850158 11689201 RHCG Rh family C glycoprotein gene DOID:2717 Bloom syndrome ISO RGD:1345053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11689201 RHCG Rh family C glycoprotein gene DOID:4500 hypokalemia ISO RGD:727859 D RGD:9068941 20200609 RGD protein:increased expression:outer medulla of kidney PMID:21753075|REF_RGD_ID:9850155 11689201 RHCG Rh family C glycoprotein gene DOID:630 genetic disease ISO RGD:1345053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11689201 RHCG Rh family C glycoprotein gene DOID:9005658 Hypoaldosteronism treatment ISO RGD:727859 D RGD:9068941 20200609 RGD PMID:21415155|REF_RGD_ID:9850160 11689201 RHCG Rh family C glycoprotein gene DOID:9256 colorectal cancer ISO RGD:1345053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11689224 LOC100976323 olfactory receptor 7C2 gene DOID:630 genetic disease ISO RGD:1344773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11689228 TMED4 transmembrane p24 trafficking protein 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11689228 TMED4 transmembrane p24 trafficking protein 4 gene DOID:630 genetic disease ISO RGD:1352955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11689243 CFAP99 cilia and flagella associated protein 99 gene DOID:630 genetic disease ISO RGD:8695362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11689262 TMEM205 transmembrane protein 205 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1605798 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11689262 TMEM205 transmembrane protein 205 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1605798 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11689262 TMEM205 transmembrane protein 205 gene DOID:0111254 glutaric acidemia I ISO RGD:1605798 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11689262 TMEM205 transmembrane protein 205 gene DOID:3413 alpha-mannosidosis ISO RGD:1605798 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11689262 TMEM205 transmembrane protein 205 gene DOID:630 genetic disease ISO RGD:1605798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11689279 VPS35L VPS35 endosomal protein sorting factor like gene DOID:9008236 Ritscher-Schinzel Syndrome 3 ISO RGD:1603979 D RGD:7240710 20210113 OMIM 11689279 VPS35L VPS35 endosomal protein sorting factor like gene DOID:9008236 Ritscher-Schinzel Syndrome 3 ISO RGD:1603979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 3 PMID:31712251 11689319 CALCR calcitonin receptor gene DOID:11476 osteoporosis ISO RGD:731272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 15 PMID:9003491|PMID:9571205|PMID:9817931 11689319 CALCR calcitonin receptor gene DOID:11476 osteoporosis susceptibility ISO RGD:731272 D RGD:7240710 20230505 OMIM 11689319 CALCR calcitonin receptor gene DOID:12678 hypercalcemia ISO RGD:731272 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18627265 11689319 CALCR calcitonin receptor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11689319 CALCR calcitonin receptor gene DOID:630 genetic disease ISO RGD:731272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11689319 CALCR calcitonin receptor gene DOID:9003870 Herpes Simplex Encephalitis treatment ISO RGD:621001 D RGD:9068941 20200609 RGD PMID:22761571|REF_RGD_ID:7240516 11689347 LOC100978953 histone H2A type 1-A gene DOID:630 genetic disease ISO RGD:1349225 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11689355 CFAP210 cilia and flagella associated protein 210 gene DOID:630 genetic disease ISO RGD:2298833 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11689373 ADAM9 ADAM metallopeptidase domain 9 gene DOID:0050572 cone-rod dystrophy ISO RGD:1321127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:19409519|PMID:25741868|PMID:28492532 11689373 ADAM9 ADAM metallopeptidase domain 9 gene DOID:0080600 COVID-19 ISO RGD:1321127 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11689373 ADAM9 ADAM metallopeptidase domain 9 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1321127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 11689373 ADAM9 ADAM metallopeptidase domain 9 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1321127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 11689373 ADAM9 ADAM metallopeptidase domain 9 gene DOID:0111013 cone-rod dystrophy 3 ISO RGD:12354473 D RGD:9068941 20210604 OMIA Cone-rod dystrophy 3 PMID:20691256|PMID:20806078|PMID:22065099 11689373 ADAM9 ADAM metallopeptidase domain 9 gene DOID:0111020 cone-rod dystrophy 9 ISO RGD:1321127 D RGD:7240710 20180130 OMIM 11689373 ADAM9 ADAM metallopeptidase domain 9 gene DOID:0111020 cone-rod dystrophy 9 ISO RGD:1321127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 9 PMID:11581183|PMID:17576681|PMID:19409519|PMID:25091951|PMID:25741868|PMID:28492532|PMID:9536098 11689373 ADAM9 ADAM metallopeptidase domain 9 gene DOID:10584 retinitis pigmentosa ISO RGD:1321127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:26261414|PMID:28492532|PMID:31456290 11689373 ADAM9 ADAM metallopeptidase domain 9 gene DOID:10652 Alzheimer's disease ISO RGD:621473 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:24792732|REF_RGD_ID:13703037 11689373 ADAM9 ADAM metallopeptidase domain 9 gene DOID:1793 pancreatic cancer ISO RGD:1321127 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas, epithelial cell PMID:17465204|REF_RGD_ID:2325247 11689373 ADAM9 ADAM metallopeptidase domain 9 gene DOID:1824 status epilepticus ISO RGD:621473 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus PMID:15950787|REF_RGD_ID:1559151 11689373 ADAM9 ADAM metallopeptidase domain 9 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1321127 D RGD:9068941 20200609 RGD protein:altered localization:cytoplasm PMID:14997207|REF_RGD_ID:2325249 11689373 ADAM9 ADAM metallopeptidase domain 9 gene DOID:607 paraplegia ISO RGD:1321127 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11689373 ADAM9 ADAM metallopeptidase domain 9 gene DOID:630 genetic disease ISO RGD:1321127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11689373 ADAM9 ADAM metallopeptidase domain 9 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1321127 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:19473694|REF_RGD_ID:2325246 11689373 ADAM9 ADAM metallopeptidase domain 9 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321127 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17018608 11689373 ADAM9 ADAM metallopeptidase domain 9 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1321127 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:19473694|REF_RGD_ID:2325246 11689399 HDDC2 HD domain containing 2 gene DOID:630 genetic disease ISO RGD:1316830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11689409 MGAT3 beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1343088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11689409 MGAT3 beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase gene DOID:630 genetic disease ISO RGD:1343088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11689421 FCAMR Fc alpha and mu receptor gene DOID:0050589 inflammatory bowel disease ISO RGD:1605024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 11689421 FCAMR Fc alpha and mu receptor gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1605024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 11689421 FCAMR Fc alpha and mu receptor gene DOID:12849 autistic disorder ISO RGD:1605024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11689421 FCAMR Fc alpha and mu receptor gene DOID:1540 parathyroid carcinoma ISO RGD:1605024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11689421 FCAMR Fc alpha and mu receptor gene DOID:630 genetic disease ISO RGD:1605024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11689421 FCAMR Fc alpha and mu receptor gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1605024 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11689421 FCAMR Fc alpha and mu receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11689433 LOC100988099 intelectin-1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1346201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11689433 LOC100988099 intelectin-1 gene DOID:1540 parathyroid carcinoma ISO RGD:1346201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11689433 LOC100988099 intelectin-1 gene DOID:630 genetic disease ISO RGD:1346201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11689433 LOC100988099 intelectin-1 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1346201 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23555749 11689433 LOC100988099 intelectin-1 gene DOID:9003566 Mesothelioma ISO RGD:1346201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15777968 11689433 LOC100988099 intelectin-1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11689433 LOC100988099 intelectin-1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23555749 11689445 MAPKBP1 mitogen-activated protein kinase binding protein 1 gene DOID:0111127 nephronophthisis 20 ISO RGD:1604640 D RGD:7240710 20200610 OMIM 11689445 MAPKBP1 mitogen-activated protein kinase binding protein 1 gene DOID:0111127 nephronophthisis 20 ISO RGD:1604640 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 20 PMID:25741868|PMID:28089251|PMID:28492532|PMID:32055034 11689445 MAPKBP1 mitogen-activated protein kinase binding protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1604640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11689445 MAPKBP1 mitogen-activated protein kinase binding protein 1 gene DOID:630 genetic disease ISO RGD:1604640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11689445 MAPKBP1 mitogen-activated protein kinase binding protein 1 gene DOID:9256 colorectal cancer ISO RGD:1604640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11689463 FANCL FA complementation group L gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1322885 D RGD:9068941 20200609 RGD PMID:17409780|REF_RGD_ID:11049143 11689463 FANCL FA complementation group L gene DOID:0111082 Fanconi anemia complementation group L ISO RGD:1322885 D RGD:7240710 20180130 OMIM 11689463 FANCL FA complementation group L gene DOID:0111082 Fanconi anemia complementation group L ISO RGD:1322885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group L PMID:16199547|PMID:17576681|PMID:19405097|PMID:21279724|PMID:23613520|PMID:24033266|PMID:25239263|PMID:25659033|PMID:25741868|PMID:25754594|PMID:26149689|PMID:26740942|PMID:26822237|PMID:26822949|PMID:27153395|PMID:27986371|PMID:28104920|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29335925|PMID:29625052|PMID:30306255|PMID:30995915|PMID:31300551|PMID:31513304|PMID:31980526|PMID:32235514|PMID:32420600|PMID:32789750|PMID:34008892|PMID:9536098 11689463 FANCL FA complementation group L gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1322885 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:17576681|PMID:19405097|PMID:21279724|PMID:23613520|PMID:25741868|PMID:26822237|PMID:26822949|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:30306255|PMID:32235514|PMID:9536098 11689463 FANCL FA complementation group L gene DOID:0111766 X-linked VACTERL association ISO RGD:1322885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus PMID:19405097|PMID:23613520|PMID:25754594|PMID:28492532|PMID:29625052 11689463 FANCL FA complementation group L gene DOID:13636 Fanconi anemia ISO RGD:1322885 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:16199547|PMID:17576681|PMID:19405097|PMID:21279724|PMID:23613520|PMID:24033266|PMID:25239263|PMID:25659033|PMID:25741868|PMID:25754594|PMID:26149689|PMID:26822237|PMID:26822949|PMID:27153395|PMID:27986371|PMID:28104920|PMID:28492532|PMID:29335925|PMID:29478780|PMID:29625052|PMID:30995915|PMID:31300551|PMID:31513304|PMID:32789750|PMID:34008892|PMID:9536098 11689463 FANCL FA complementation group L gene DOID:13636 Fanconi anemia ISO RGD:1322885 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia PMID:16199547|PMID:17576681|PMID:19405097|PMID:21279724|PMID:23613520|PMID:24033266|PMID:25239263|PMID:25659033|PMID:25741868|PMID:25754594|PMID:26149689|PMID:26822237|PMID:26822949|PMID:27153395|PMID:27986371|PMID:28104920|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29335925|PMID:29416752|PMID:29478780|PMID:29625052|PMID:30306255|PMID:30995915|PMID:31300551|PMID:31513304|PMID:31942411|PMID:31980526|PMID:32008151|PMID:32235514|PMID:32420600|PMID:32789750|PMID:34008892|PMID:34647594|PMID:9536098 11689463 FANCL FA complementation group L gene DOID:13636 Fanconi anemia ISO RGD:1322885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:12973351|PMID:16199547|PMID:17576681|PMID:17938197|PMID:19111657|PMID:19405097|PMID:21279724|PMID:22720145|PMID:23613520|PMID:24033266|PMID:24389026|PMID:25239263|PMID:25659033|PMID:25741868|PMID:25754594|PMID:26149689|PMID:26740942|PMID:26822237|PMID:26822949|PMID:27153395|PMID:27986371|PMID:28104920|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29335925|PMID:29416752|PMID:29478780|PMID:29625052|PMID:30306255|PMID:30995915|PMID:31300551|PMID:31513304|PMID:31942411|PMID:31980526|PMID:32008151|PMID:32235514|PMID:32420600|PMID:32789750|PMID:34008892|PMID:34647594|PMID:9536098 11689463 FANCL FA complementation group L gene DOID:14450 46 XX gonadal dysgenesis ISO RGD:1618380 D RGD:9068941 20220825 MouseDO OMIM:233300 | OMIM:278850 | OMIM:300833 | OMIM:400045 | OMIM:611812 | OMIM:614324 11689463 FANCL FA complementation group L gene DOID:14679 VACTERL association ISO RGD:1322885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: VATER association PMID:19405097|PMID:23613520|PMID:25754594|PMID:28492532 11689463 FANCL FA complementation group L gene DOID:5426 primary ovarian insufficiency ISO RGD:1322885 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:19405097|PMID:23613520|PMID:24033266|PMID:25239263|PMID:25659033|PMID:25741868|PMID:27153395|PMID:28104920|PMID:28492532|PMID:31980526 11689463 FANCL FA complementation group L gene DOID:630 genetic disease ISO RGD:1322885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11689508 WFDC2 WAP four-disulfide core domain 2 gene DOID:2234 focal epilepsy ISO RGD:1344525 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11689508 WFDC2 WAP four-disulfide core domain 2 gene DOID:630 genetic disease ISO RGD:1344525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11689508 WFDC2 WAP four-disulfide core domain 2 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1344525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11689508 WFDC2 WAP four-disulfide core domain 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11689516 POU2AF2 POU class 2 homeobox associating factor 2 gene DOID:1059 intellectual disability ISO RGD:1605809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11689516 POU2AF2 POU class 2 homeobox associating factor 2 gene DOID:12704 ataxia telangiectasia ISO RGD:1605809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11689516 POU2AF2 POU class 2 homeobox associating factor 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11689529 FKBP15 FKBP prolyl isomerase family member 15 gene DOID:303 substance-related disorder ISO RGD:1312480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11689529 FKBP15 FKBP prolyl isomerase family member 15 gene DOID:630 genetic disease ISO RGD:1312480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11689529 FKBP15 FKBP prolyl isomerase family member 15 gene DOID:670 amphetamine abuse ISO RGD:1312480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11689573 GLB1L galactosidase beta 1 like gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1319832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11689573 GLB1L galactosidase beta 1 like gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1319832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11689573 GLB1L galactosidase beta 1 like gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1319832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11689573 GLB1L galactosidase beta 1 like gene DOID:1148 polydactyly ISO RGD:1319832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 11689573 GLB1L galactosidase beta 1 like gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1319832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11689573 GLB1L galactosidase beta 1 like gene DOID:630 genetic disease ISO RGD:1319832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11689573 GLB1L galactosidase beta 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11689603 SLC25A10 solute carrier family 25 member 10 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1350550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25741868|PMID:29211846 11689603 SLC25A10 solute carrier family 25 member 10 gene DOID:305 carcinoma ISO RGD:1350550 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11689603 SLC25A10 solute carrier family 25 member 10 gene DOID:630 genetic disease ISO RGD:1350550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11689603 SLC25A10 solute carrier family 25 member 10 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1350550 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11689603 SLC25A10 solute carrier family 25 member 10 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1350550 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11689603 SLC25A10 solute carrier family 25 member 10 gene DOID:9006004 Mitochondrial DNA Depletion Syndrome 19 ISO RGD:1350550 D RGD:7240710 20200812 OMIM 11689603 SLC25A10 solute carrier family 25 member 10 gene DOID:9006004 Mitochondrial DNA Depletion Syndrome 19 ISO RGD:1350550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 19 PMID:25741868|PMID:29211846 11689705 PPP2R5B protein phosphatase 2 regulatory subunit B'beta gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1353441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11689705 PPP2R5B protein phosphatase 2 regulatory subunit B'beta gene DOID:1059 intellectual disability ISO RGD:1353441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11689705 PPP2R5B protein phosphatase 2 regulatory subunit B'beta gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11689705 PPP2R5B protein phosphatase 2 regulatory subunit B'beta gene DOID:2746 glycogen storage disease V ISO RGD:1353441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11689705 PPP2R5B protein phosphatase 2 regulatory subunit B'beta gene DOID:3070 high grade glioma ISO RGD:1353441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11689705 PPP2R5B protein phosphatase 2 regulatory subunit B'beta gene DOID:630 genetic disease ISO RGD:1353441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11689724 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1347377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 11689724 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1347377 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11689724 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q gene DOID:0112213 developmental and epileptic encephalopathy 77 ISO RGD:1347377 D RGD:7240710 20190911 OMIM 11689724 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q gene DOID:0112213 developmental and epileptic encephalopathy 77 ISO RGD:1347377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77 | ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:31148362|PMID:32588908 11689724 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q gene DOID:1826 epilepsy ISO RGD:1347377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:16199547|PMID:17576681|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:31148362|PMID:32588908|PMID:9536098 11689724 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1347377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11689724 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q gene DOID:630 genetic disease ISO RGD:1347377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:31148362|PMID:32588908 11689724 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q gene DOID:9008086 Developmental Disabilities ISO RGD:1347377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24463883|PMID:25558065|PMID:28492532 11689756 HEPACAM hepatic and glial cell adhesion molecule gene DOID:0060041 autism spectrum disorder ISO RGD:1605560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30763456 11689756 HEPACAM hepatic and glial cell adhesion molecule gene DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts ISO RGD:1605560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts PMID:21419380|PMID:25741868|PMID:28492532 11689756 HEPACAM hepatic and glial cell adhesion molecule gene DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 ISO RGD:1605560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 PMID:25741868|PMID:28492532|PMID:29389947|PMID:29915382 11689756 HEPACAM hepatic and glial cell adhesion molecule gene DOID:0080317 megalencephalic leukoencephalopathy with subcortical cysts 2B ISO RGD:1605560 D RGD:7240710 20180130 OMIM 11689756 HEPACAM hepatic and glial cell adhesion molecule gene DOID:0080317 megalencephalic leukoencephalopathy with subcortical cysts 2B ISO RGD:1605560 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability PMID:21419380|PMID:25044933|PMID:25741868|PMID:28492532 11689756 HEPACAM hepatic and glial cell adhesion molecule gene DOID:0080318 megalencephalic leukoencephalopathy with subcortical cysts 2A ISO RGD:1605560 D RGD:7240710 20180130 OMIM 11689756 HEPACAM hepatic and glial cell adhesion molecule gene DOID:0080318 megalencephalic leukoencephalopathy with subcortical cysts 2A ISO RGD:1605560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2A PMID:21419380|PMID:25044933|PMID:25741868|PMID:28492532 11689756 HEPACAM hepatic and glial cell adhesion molecule gene DOID:0110877 holoprosencephaly 11 ISO RGD:1605560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11689756 HEPACAM hepatic and glial cell adhesion molecule gene DOID:0111723 Jacobsen Syndrome ISO RGD:1605560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11689756 HEPACAM hepatic and glial cell adhesion molecule gene DOID:1059 intellectual disability ISO RGD:1605560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11689756 HEPACAM hepatic and glial cell adhesion molecule gene DOID:5419 schizophrenia ISO RGD:1605560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11689756 HEPACAM hepatic and glial cell adhesion molecule gene DOID:630 genetic disease ISO RGD:1605560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29915382 11689756 HEPACAM hepatic and glial cell adhesion molecule gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11689756 HEPACAM hepatic and glial cell adhesion molecule gene DOID:9007661 Dwarfism ISO RGD:1605560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11689774 MTHFD2L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like gene DOID:630 genetic disease ISO RGD:1345478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11689774 MTHFD2L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1345478 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11689802 UBE2O ubiquitin conjugating enzyme E2 O gene DOID:630 genetic disease ISO RGD:1606786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11689834 LOC100977575 cytochrome b-c1 complex subunit 1, mitochondrial gene DOID:10652 Alzheimer's disease ISO RGD:1342599 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:26943237|REF_RGD_ID:11572212 11689834 LOC100977575 cytochrome b-c1 complex subunit 1, mitochondrial gene DOID:10652 Alzheimer's disease ISO RGD:1342599 D RGD:9068941 20200609 RGD protein:decreased expression:temporal cortex PMID:11130185|REF_RGD_ID:13831335 11689834 LOC100977575 cytochrome b-c1 complex subunit 1, mitochondrial gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1342599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11689834 LOC100977575 cytochrome b-c1 complex subunit 1, mitochondrial gene DOID:630 genetic disease ISO RGD:1342599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11689834 LOC100977575 cytochrome b-c1 complex subunit 1, mitochondrial gene DOID:9000233 PARKINSONISM WITH POLYNEUROPATHY ISO RGD:1342599 D RGD:7240710 20210519 OMIM 11689834 LOC100977575 cytochrome b-c1 complex subunit 1, mitochondrial gene DOID:9000233 PARKINSONISM WITH POLYNEUROPATHY ISO RGD:1342599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism with polyneuropathy PMID:25741868|PMID:33141179 11689834 LOC100977575 cytochrome b-c1 complex subunit 1, mitochondrial gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1342599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11689834 LOC100977575 cytochrome b-c1 complex subunit 1, mitochondrial gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1342599 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11689851 GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1351614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11689851 GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1351614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11689851 GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1351614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11689851 GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) gene DOID:0080600 COVID-19 ISO RGD:1351614 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11689851 GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) gene DOID:0081097 Rafiq syndrome ISO RGD:1351614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11689851 GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1351614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11689851 GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) gene DOID:3652 Leigh disease ISO RGD:1351614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11689851 GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) gene DOID:630 genetic disease ISO RGD:1351614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11689890 SLC51B solute carrier family 51 subunit beta gene DOID:0110935 nemaline myopathy 6 ISO RGD:1604245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055|PMID:28492532 11689890 SLC51B solute carrier family 51 subunit beta gene DOID:12236 primary biliary cholangitis ISO RGD:1604245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16423920 11689890 SLC51B solute carrier family 51 subunit beta gene DOID:13250 diarrhea ISO RGD:1604245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diarrhea PMID:25741868|PMID:28898457 11689890 SLC51B solute carrier family 51 subunit beta gene DOID:13580 cholestasis ISO RGD:1604245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16423920|PMID:22461449 11689890 SLC51B solute carrier family 51 subunit beta gene DOID:1561 cognitive disorder ISO RGD:1604245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 11689890 SLC51B solute carrier family 51 subunit beta gene DOID:2717 Bloom syndrome ISO RGD:1604245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11689890 SLC51B solute carrier family 51 subunit beta gene DOID:630 genetic disease ISO RGD:1604245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11689890 SLC51B solute carrier family 51 subunit beta gene DOID:9002010 Primary Bile Acid Malabsorption 2 ISO RGD:1604245 D RGD:7240710 20210825 OMIM 11689890 SLC51B solute carrier family 51 subunit beta gene DOID:9002010 Primary Bile Acid Malabsorption 2 ISO RGD:1604245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bile acid malabsorption, primary, 2 PMID:25741868|PMID:28898457 11689890 SLC51B solute carrier family 51 subunit beta gene DOID:9002661 Diabetes Complications ISO RGD:1604245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 11689890 SLC51B solute carrier family 51 subunit beta gene DOID:9256 colorectal cancer ISO RGD:1604245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11689902 IL4I1 interleukin 4 induced 1 gene DOID:630 genetic disease ISO RGD:1312498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11689902 IL4I1 interleukin 4 induced 1 gene DOID:9008334 Striatonigral Degeneration, Infantile ISO RGD:1312498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile bilateral striatal necrosis | ClinVar Annotator: match by term: Striatal degeneration familial PMID:16786527|PMID:25741868|PMID:28492532 11689932 SOX30 SRY-box transcription factor 30 gene DOID:12336 male infertility ISO RGD:1602491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 11689932 SOX30 SRY-box transcription factor 30 gene DOID:1324 lung cancer ISO RGD:1602491 D RGD:9068941 20220303 RGD DNA:hypermethylation:lung: PMID:25435374|REF_RGD_ID:151660338 11689932 SOX30 SRY-box transcription factor 30 gene DOID:1324 lung cancer exacerbates ISO RGD:1602491 D RGD:9068941 20220303 RGD PMID:25435374|REF_RGD_ID:151660338 11689932 SOX30 SRY-box transcription factor 30 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:1602491 D RGD:9068941 20220303 RGD PMID:26330328|REF_RGD_ID:11535423 11689932 SOX30 SRY-box transcription factor 30 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1602491 D RGD:9068941 20220303 RGD PMID:32443323|REF_RGD_ID:151660331 11689932 SOX30 SRY-box transcription factor 30 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1602491 D RGD:9068941 20220303 RGD PMID:26330328|REF_RGD_ID:11535423 11689932 SOX30 SRY-box transcription factor 30 gene DOID:630 genetic disease ISO RGD:1602491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11689932 SOX30 SRY-box transcription factor 30 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1602491 D RGD:9068941 20220303 RGD PMID:30312695|REF_RGD_ID:151660341 11689932 SOX30 SRY-box transcription factor 30 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1602491 D RGD:9068941 20220303 RGD PMID:30312695|REF_RGD_ID:151660341 11689932 SOX30 SRY-box transcription factor 30 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1602491 D RGD:9068941 20220303 RGD associated with lung non-small cell carcinoma;mRNA, protein:decreased expression: : PMID:29739711|REF_RGD_ID:151660333 11689932 SOX30 SRY-box transcription factor 30 gene DOID:9005172 Lung Neoplasms ISO RGD:1602491 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25435374 11689932 SOX30 SRY-box transcription factor 30 gene DOID:9006618 Liver Metastasis ameliorates ISO RGD:1313914 D RGD:9068941 20220303 RGD PMID:29739711|REF_RGD_ID:151660333 11689932 SOX30 SRY-box transcription factor 30 gene DOID:9009121 lung metastasis ameliorates ISO RGD:1313914 D RGD:9068941 20220303 RGD PMID:29739711|REF_RGD_ID:151660333 11689950 C5H5orf46 chromosome 5 C5orf46 homolog gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605197 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11689950 C5H5orf46 chromosome 5 C5orf46 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11689950 C5H5orf46 chromosome 5 C5orf46 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605197 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:0050938 breast lobular carcinoma ISO RGD:737523 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:15609129 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:0060071 pre-malignant neoplasm ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15609129 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:0060074 ductal carcinoma in situ ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15609129 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:0060074 ductal carcinoma in situ ISO RGD:737523 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:15609129|REF_RGD_ID:2291932 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:0060074 ductal carcinoma in situ ISO RGD:737523 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:16133357|REF_RGD_ID:2291930 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:737523 D RGD:9068941 20220407 RGD protein:increased phosphorylation:bone marrow (human) PMID:27018255|REF_RGD_ID:151665817 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 ISO RGD:737523 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive PMID:28492532 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:0080909 castration-resistant prostate carcinoma disease_progression ISO RGD:737523 D RGD:9068941 20220414 RGD DNA:CNV: :prostate (human) PMID:23660011|REF_RGD_ID:151667415 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:0080909 castration-resistant prostate carcinoma treatment ISO RGD:11351 D RGD:9068941 20220414 RGD PMID:23660011|REF_RGD_ID:151667415 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:10283 prostate cancer disease_progression ISO RGD:737523 D RGD:9068941 20220414 RGD DNA:CNV: :prostate (human) PMID:23660011|REF_RGD_ID:151667415 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:10485 esophageal atresia ISO RGD:737523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:234 colon adenocarcinoma ISO RGD:737523 D RGD:9068941 20220812 RGD DNA:SNP:intron: (rs7217728) (human) PMID:22121102|REF_RGD_ID:153323313 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:299 adenocarcinoma ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20235097|PMID:21552421 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:305 carcinoma ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942|PMID:17173897 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:3068 glioblastoma disease_progression ISO RGD:737523 D RGD:9068941 20220414 RGD mRNA, protein:increased expression:brain (human) PMID:31783691|REF_RGD_ID:151667907 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:3068 glioblastoma treatment ISO RGD:737523 D RGD:9068941 20220414 RGD human cells in mouse model PMID:31783691|REF_RGD_ID:151667907 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:3261 hyper IgE recurrent infection syndrome 1 ISO RGD:737523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1 PMID:28492532 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:3457 invasive lobular carcinoma ISO RGD:737523 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:15609129|REF_RGD_ID:2291932 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:737523 D RGD:9068941 20220729 RGD mRNA:increased expression:stomach (human) PMID:33042401|REF_RGD_ID:153298934 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:630 genetic disease ISO RGD:737523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:11351 D RGD:9068941 20210702 RGD PMID:28100771|REF_RGD_ID:127285675 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:707 B-cell lymphoma ISO RGD:11351 D RGD:9068941 20220407 RGD PMID:27018255|REF_RGD_ID:151665817 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:8552 chronic myeloid leukemia ISO RGD:737523 D RGD:9068941 20220414 RGD mRNA:increased expression:PBMC (human) PMID:31952546|REF_RGD_ID:151667904 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:8552 chronic myeloid leukemia disease_progression ISO RGD:11351 D RGD:9068941 20220414 RGD PMID:16522816|REF_RGD_ID:151667903 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:737523 D RGD:9068941 20220414 RGD human cells in mouse model PMID:31952546|REF_RGD_ID:151667904 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:15609129|PMID:16316942|PMID:17173897|PMID:20235097 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:737523 D RGD:9068941 20220414 RGD DNA:CNV: :prostate (human) PMID:23660011|REF_RGD_ID:151667415 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3773 D RGD:9068941 20220331 RGD PMID:30346985|REF_RGD_ID:151665755 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:9004009 Reperfusion Injury ISO RGD:3773 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:17880360|REF_RGD_ID:2303397 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:9004713 Acute-Phase Reaction ISO RGD:3773 D RGD:9068941 20220331 RGD protein:increased expression:liver (rat) PMID:7519723|REF_RGD_ID:151665740 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:9005172 Lung Neoplasms ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:11351 D RGD:9068941 20220407 RGD PMID:20181624|REF_RGD_ID:151665819 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3773 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:15609129|REF_RGD_ID:2291932 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3773 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:mammary gland PMID:17173897|REF_RGD_ID:2291927 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3773 D RGD:9068941 20220324 RGD mRNA:increased expression:mammary gland (rat) PMID:16316942|REF_RGD_ID:2306898 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3773 D RGD:9068941 20220331 RGD mRNA, protein:increased expression:mammary gland (rat) PMID:12376462|REF_RGD_ID:2292404 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:15609129|PMID:16316942 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms susceptibility ISO RGD:11351 D RGD:9068941 20200609 RGD PMID:12082622|REF_RGD_ID:2298539 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:737523 D RGD:9068941 20201218 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:26541527|REF_RGD_ID:40902860 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:9007102 Myocardial Ischemia ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15746188 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:9008138 Ductal Carcinoma ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15609129 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:9008939 Breast Neoplasms ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15609129 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:9008939 Breast Neoplasms ISO RGD:737523 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:15609129|REF_RGD_ID:2291932 11689961 LOC100988550 signal transducer and activator of transcription 5A gene DOID:9008939 Breast Neoplasms ISO RGD:737523 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:16133357|REF_RGD_ID:2291930 11689988 PRDX5 peroxiredoxin 5 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1347956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11689988 PRDX5 peroxiredoxin 5 gene DOID:10459 common cold ISO RGD:1347956 D RGD:9068941 20210205 RGD associated with asthma;protein:increased expression:sputum (human) PMID:18219526|REF_RGD_ID:41404684 11689988 PRDX5 peroxiredoxin 5 gene DOID:1059 intellectual disability ISO RGD:1347956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11689988 PRDX5 peroxiredoxin 5 gene DOID:11077 brucellosis ISO RGD:733919 D RGD:9068941 20210205 RGD mRNA:increased expression:spleen (mouse) PMID:31196623|REF_RGD_ID:41404681 11689988 PRDX5 peroxiredoxin 5 gene DOID:11335 sarcoidosis ISO RGD:1347956 D RGD:9068941 20210205 RGD protein:increased expression:alveolus of lung (human) PMID:22837380|REF_RGD_ID:41404683 11689988 PRDX5 peroxiredoxin 5 gene DOID:3070 high grade glioma ISO RGD:1347956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11689988 PRDX5 peroxiredoxin 5 gene DOID:630 genetic disease ISO RGD:1347956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11689988 PRDX5 peroxiredoxin 5 gene DOID:9000217 Stomach Neoplasms ISO RGD:1347956 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 11689988 PRDX5 peroxiredoxin 5 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1347956 D RGD:9068941 20210205 RGD mRNA:decreased expression:liver, blood (human) PMID:32103340|REF_RGD_ID:41404682 11689988 PRDX5 peroxiredoxin 5 gene DOID:986 alopecia areata ISO RGD:1347956 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20596022 11690001 EPHB6 EPH receptor B6 gene DOID:12365 malaria ISO RGD:1314624 D RGD:9068941 20210618 RGD PMID:25784101|REF_RGD_ID:127285023 11690001 EPHB6 EPH receptor B6 gene DOID:2661 myoepithelioma ISO RGD:1314623 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11690001 EPHB6 EPH receptor B6 gene DOID:630 genetic disease ISO RGD:1314623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11690036 TFR2 transferrin receptor 2 gene DOID:0111029 hemochromatosis type 1 ISO RGD:1320887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 1 | ClinVar Annotator: match by term: Hemochromatosis, type 1, modifier of PMID:12150153|PMID:16424658|PMID:20301523|PMID:22890139|PMID:23600741|PMID:24055163|PMID:25741868|PMID:26029709|PMID:28492532 11690036 TFR2 transferrin receptor 2 gene DOID:0111030 hemochromatosis type 3 ISO RGD:1320887 D RGD:7240710 20180130 OMIM 11690036 TFR2 transferrin receptor 2 gene DOID:0111030 hemochromatosis type 3 ISO RGD:1320887 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 3 | ClinVar Annotator: match by term: Hereditary hemochromatosis type 3 PMID:10802645|PMID:11102989|PMID:11313241|PMID:11358389|PMID:12130528|PMID:12150153|PMID:14633868|PMID:15147384|PMID:15749661|PMID:16424658|PMID:16838333|PMID:16923517|PMID:17562347|PMID:17576681|PMID:17951290|PMID:18245657|PMID:18450729|PMID:18762941|PMID:20301523|PMID:21524769|PMID:21770687|PMID:22890139|PMID:23556518|PMID:23600741|PMID:24055163|PMID:25741868|PMID:26029709|PMID:26183747|PMID:26408288|PMID:27667161|PMID:28492532|PMID:34946929|PMID:9536098 11690036 TFR2 transferrin receptor 2 gene DOID:0111031 hemochromatosis type 5 ISO RGD:1320887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary hemochromatosis type 5 PMID:28492532 11690036 TFR2 transferrin receptor 2 gene DOID:12241 beta thalassemia ISO RGD:1320887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16755567 11690036 TFR2 transferrin receptor 2 gene DOID:12241 beta thalassemia ISO RGD:1320888 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver: PMID:16755567|REF_RGD_ID:11062138 11690036 TFR2 transferrin receptor 2 gene DOID:2352 hemochromatosis ISO RGD:1320887 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: HFE POLYMORPHISM | ClinVar Annotator: match by term: Hereditary hemochromatosis PMID:11313241|PMID:12130528|PMID:12150153|PMID:14633868|PMID:15147384|PMID:16199547|PMID:16424658|PMID:17562347|PMID:17576681|PMID:17951290|PMID:18245657|PMID:18762941|PMID:20301523|PMID:21770687|PMID:21901660|PMID:22890139|PMID:23556518|PMID:23600741|PMID:24055163|PMID:25741868|PMID:26029709|PMID:27667161|PMID:28276324|PMID:28492532|PMID:9536098 11690036 TFR2 transferrin receptor 2 gene DOID:2352 hemochromatosis ISO RGD:1320887 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hemochromatosis PMID:11102989|PMID:11313241|PMID:11358389|PMID:12130528|PMID:12150153|PMID:14633868|PMID:15147384|PMID:16199547|PMID:16424658|PMID:17562347|PMID:17576681|PMID:17951290|PMID:18245657|PMID:18450729|PMID:18762941|PMID:20301523|PMID:21770687|PMID:22890139|PMID:22981443|PMID:23556518|PMID:23600741|PMID:24055163|PMID:25741868|PMID:26029709|PMID:26183747|PMID:26408288|PMID:27667161|PMID:27896572|PMID:28276324|PMID:28492532|PMID:9536098 11690036 TFR2 transferrin receptor 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11690036 TFR2 transferrin receptor 2 gene DOID:630 genetic disease ISO RGD:1320887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11690036 TFR2 transferrin receptor 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1320887 D RGD:9068941 20200609 RGD PMID:15015967|REF_RGD_ID:11062090 11690053 TOX4 TOX high mobility group box family member 4 gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1350277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:11528500|PMID:23105016|PMID:28492532 11690053 TOX4 TOX high mobility group box family member 4 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1350277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 11690053 TOX4 TOX high mobility group box family member 4 gene DOID:630 genetic disease ISO RGD:1350277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11690053 TOX4 TOX high mobility group box family member 4 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1350277 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11690067 LOC100992160 protocadherin alpha-11 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1343466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11690067 LOC100992160 protocadherin alpha-11 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343466 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11690067 LOC100992160 protocadherin alpha-11 gene DOID:10283 prostate cancer ISO RGD:1343466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11690067 LOC100992160 protocadherin alpha-11 gene DOID:10487 Hirschsprung's disease ISO RGD:1343466 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 11690067 LOC100992160 protocadherin alpha-11 gene DOID:2228 thrombocytosis ISO RGD:1343466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytosis PMID:25741868 11690067 LOC100992160 protocadherin alpha-11 gene DOID:4079 heart valve disease ISO RGD:1343466 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28530678 11690067 LOC100992160 protocadherin alpha-11 gene DOID:630 genetic disease ISO RGD:1343466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11690067 LOC100992160 protocadherin alpha-11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11690067 LOC100992160 protocadherin alpha-11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343466 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11690067 LOC100992160 protocadherin alpha-11 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1343466 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28530678 11690134 OSR2 odd-skipped related transciption factor 2 gene DOID:0111590 Cohen syndrome ISO RGD:1345615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 11690134 OSR2 odd-skipped related transciption factor 2 gene DOID:289 endometriosis ISO RGD:1345615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11690134 OSR2 odd-skipped related transciption factor 2 gene DOID:630 genetic disease ISO RGD:1345615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11690180 PHLDA1 pleckstrin homology like domain family A member 1 gene DOID:0060224 atrial fibrillation ISO RGD:733133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 11690180 PHLDA1 pleckstrin homology like domain family A member 1 gene DOID:1561 cognitive disorder ISO RGD:733133 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:36155068 11690180 PHLDA1 pleckstrin homology like domain family A member 1 gene DOID:3042 allergic contact dermatitis ISO RGD:733133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 11690180 PHLDA1 pleckstrin homology like domain family A member 1 gene DOID:630 genetic disease ISO RGD:733133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11690180 PHLDA1 pleckstrin homology like domain family A member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11690231 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:0080016 spina bifida ISO RGD:1593621 D RGD:9068941 20200611 RGD PMID:20515739|REF_RGD_ID:9491842 11690231 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:14731 Weaver syndrome ISO RGD:1344509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Weaver syndrome PMID:25741868|PMID:30019515 11690231 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:1909 melanoma ISO RGD:1344509 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 11690231 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:1969 cerebral palsy ISO RGD:1344509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 11690231 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:3068 glioblastoma ISO RGD:1344509 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 11690231 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:3070 high grade glioma ISO RGD:1344509 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 11690231 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:3192 neurilemmoma ISO RGD:1344509 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 11690231 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:3307 teratoma ISO RGD:1344509 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 11690231 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:5176 renal Wilms' tumor ISO RGD:1344509 D RGD:9068941 20221103 RGD human tumor in mouse model PMID:18467665|REF_RGD_ID:155631277 11690231 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:630 genetic disease ISO RGD:1344509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11690231 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:657 adenoma ISO RGD:1344509 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 11690231 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9001800 IMAGAWA-MATSUMOTO SYNDROME ISO RGD:1344509 D RGD:7240710 20200611 OMIM 11690231 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9001800 IMAGAWA-MATSUMOTO SYNDROME ISO RGD:1344509 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Imagawa-Matsumoto syndrome PMID:25741868|PMID:28229514|PMID:28492532|PMID:30019515|PMID:31736240 11690231 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9004217 Nerve Sheath Neoplasms ISO RGD:1344509 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:25240281|PMID:25305755 11690231 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344509 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11690231 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9005120 Pigmented Nevus ISO RGD:1344509 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 11690231 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1619223 D RGD:9068941 20221103 RGD mRNA:altered expression:kidney (mouse) PMID:18467665|REF_RGD_ID:155631277 11690231 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9007715 Endometrial Neoplasms ISO RGD:1344509 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:18264096 11690231 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9008086 Developmental Disabilities ISO RGD:1344509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11690231 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9008386 Hydrops Fetalis ISO RGD:1344509 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868 11690231 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9008582 Developmental Disease ISO RGD:1344509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11690231 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:962 neurofibroma ISO RGD:1344509 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 11690242 PLPP6 phospholipid phosphatase 6 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1606068 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 11690242 PLPP6 phospholipid phosphatase 6 gene DOID:630 genetic disease ISO RGD:1606068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11690268 PPP1R12C protein phosphatase 1 regulatory subunit 12C gene DOID:630 genetic disease ISO RGD:1343542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11690311 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1323692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 11690311 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1323692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 11690311 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1323692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 11690311 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:1059 intellectual disability ISO RGD:1323692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11690311 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:12712 nephronophthisis ISO RGD:1323692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 11690311 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1323692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 11690311 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:630 genetic disease ISO RGD:1323692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11690311 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9001793 Generalized Epilepsy ISO RGD:1323692 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 11690311 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9002232 Attenuated Adenomatous Polyposis Coli ISO RGD:1323692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenomatous polyposis coli, attenuated PMID:19617566|PMID:20551049|PMID:22461326|PMID:24038392|PMID:24357849|PMID:25741868|PMID:26467025|PMID:26845104|PMID:27153395|PMID:28492532|PMID:28944238|PMID:29095867|PMID:29596542|PMID:29749045|PMID:31548401|PMID:33193653 11690311 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:19617566|PMID:20551049|PMID:22461326|PMID:24038392|PMID:24357849|PMID:25741868|PMID:26467025|PMID:26845104|PMID:27153395|PMID:28166811|PMID:28492532|PMID:28944238|PMID:29095867|PMID:29546405|PMID:29596542|PMID:29749045|PMID:31548401|PMID:33193653|PMID:9536098 11690311 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:19617566|PMID:20551049|PMID:22461326|PMID:24038392|PMID:24357849|PMID:25637381|PMID:25741868|PMID:26021770|PMID:26467025|PMID:26845104|PMID:27153395|PMID:28166811|PMID:28492532|PMID:28944238|PMID:29095867|PMID:29546405|PMID:29596542|PMID:29749045|PMID:30886832|PMID:31263571|PMID:31548401|PMID:32963463|PMID:33193653|PMID:9536098 11690311 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1323692 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11690311 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9008939 Breast Neoplasms ISO RGD:1323692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:25741868|PMID:28492532|PMID:29546405 11690311 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9256 colorectal cancer ISO RGD:1323692 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:19617566|PMID:20551049|PMID:22461326|PMID:24038392|PMID:24357849|PMID:25637381|PMID:25741868|PMID:26021770|PMID:26467025|PMID:26845104|PMID:27153395|PMID:28492532|PMID:28944238|PMID:29095867|PMID:29596542|PMID:29749045|PMID:31548401|PMID:33193653 11690311 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1323692 D RGD:7240710 20200226 OMIM 11690337 GATA3 GATA binding protein 3 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 11690337 GATA3 GATA binding protein 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:733638 D RGD:7240710 20180130 OMIM 11690337 GATA3 GATA binding protein 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:733638 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:10935639|PMID:11389161|PMID:14985365|PMID:15705923|PMID:16199547|PMID:16912130|PMID:17210674|PMID:17309062|PMID:17576681|PMID:18621058|PMID:19057839|PMID:19248180|PMID:19253381|PMID:21120445|PMID:21242646|PMID:21834031|PMID:23052618|PMID:23142663|PMID:23435732|PMID:24033266|PMID:24728327|PMID:25137426|PMID:25741868|PMID:25741912|PMID:26282285|PMID:26316437|PMID:26467025|PMID:26514990|PMID:27387476|PMID:28492532|PMID:28566604|PMID:30143558|PMID:30311386|PMID:30396722|PMID:30534854|PMID:31433868|PMID:32442337|PMID:33120464|PMID:35802133|PMID:36633841|PMID:9536098 11690337 GATA3 GATA binding protein 3 gene DOID:0080205 CAKUT ISO RGD:733638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 11690337 GATA3 GATA binding protein 3 gene DOID:0080600 COVID-19 ISO RGD:733638 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11690337 GATA3 GATA binding protein 3 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24141364 11690337 GATA3 GATA binding protein 3 gene DOID:10003 sensorineural hearing loss ISO RGD:733638 D RGD:9068941 20200609 RGD HDR Syndrome/Barakat Syndrome, OMIM:146255 DNA:point_mutation, deletion, deletion:CDS:Arg277Ter, 49bpDELnt465-513, 12bpDELnt946-957 PMID:10935639|REF_RGD_ID:1358706 11690337 GATA3 GATA binding protein 3 gene DOID:11199 hypoparathyroidism ISO RGD:733638 D RGD:9068941 20200609 RGD HDR Syndrome/Barakat Syndrome, OMIM:146255 DNA:point_mutation, deletion, deletion:CDS:Arg277Ter, 49bpDELnt465-513, 12bpDELnt946-957 PMID:10935639|REF_RGD_ID:1358706 11690337 GATA3 GATA binding protein 3 gene DOID:2527 nephrosis ISO RGD:733638 D RGD:9068941 20200609 RGD HDR Syndrome/Barakat Syndrome, OMIM:146255 DNA:point_mutation, deletion, deletion:CDS:Arg277Ter, 49bpDELnt465-513, 12bpDELnt946-957 PMID:10935639|REF_RGD_ID:1358706 11690337 GATA3 GATA binding protein 3 gene DOID:2841 asthma ISO RGD:621250 D RGD:9068941 20200609 RGD PMID:18186587|REF_RGD_ID:5128803 11690337 GATA3 GATA binding protein 3 gene DOID:2841 asthma ISO RGD:733638 D RGD:9068941 20200609 RGD PMID:9949310|REF_RGD_ID:5128802 11690337 GATA3 GATA binding protein 3 gene DOID:305 carcinoma ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11690337 GATA3 GATA binding protein 3 gene DOID:630 genetic disease ISO RGD:733638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26514990|PMID:27387476|PMID:28492532 11690337 GATA3 GATA binding protein 3 gene DOID:7148 rheumatoid arthritis ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 11690337 GATA3 GATA binding protein 3 gene DOID:769 neuroblastoma ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30127528 11690337 GATA3 GATA binding protein 3 gene DOID:783 end stage renal disease ISO RGD:733638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stage 5 chronic kidney disease PMID:25741868 11690337 GATA3 GATA binding protein 3 gene DOID:8567 Hodgkin's lymphoma ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21037568 11690337 GATA3 GATA binding protein 3 gene DOID:9000156 Metaplasia ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27315767 11690337 GATA3 GATA binding protein 3 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11690337 GATA3 GATA binding protein 3 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:621250 D RGD:9068941 20200609 RGD PMID:20118299|REF_RGD_ID:5128801 11690337 GATA3 GATA binding protein 3 gene DOID:9001371 Eosinophilia ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27315767 11690337 GATA3 GATA binding protein 3 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:621250 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spleen PMID:16336837|REF_RGD_ID:2314191 11690337 GATA3 GATA binding protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:25741912 11690337 GATA3 GATA binding protein 3 gene DOID:9004484 Sepsis severity ISO RGD:733638 D RGD:9068941 20200806 RGD PMID:25403265|REF_RGD_ID:38455982 11690337 GATA3 GATA binding protein 3 gene DOID:9004538 Hearing Loss ISO RGD:733638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:28492532|PMID:30311386 11690337 GATA3 GATA binding protein 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11690337 GATA3 GATA binding protein 3 gene DOID:9005372 Inflammation ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22325453 11690337 GATA3 GATA binding protein 3 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 11690337 GATA3 GATA binding protein 3 gene DOID:9007702 Carcinogenesis ISO RGD:733638 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:35115686 11690337 GATA3 GATA binding protein 3 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:733638 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:35115686 11690361 TERF1 telomeric repeat binding factor 1 gene DOID:10534 stomach cancer ISO RGD:1323104 D RGD:9068941 20200609 RGD protein:increased expression:gastric mucosa (human) PMID:20127252|REF_RGD_ID:2317220 11690361 TERF1 telomeric repeat binding factor 1 gene DOID:1612 breast cancer ISO RGD:1323104 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast tumor (human) PMID:18720522|REF_RGD_ID:2317222 11690361 TERF1 telomeric repeat binding factor 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1323105 D RGD:9068941 20200609 RGD PMID:19679647|REF_RGD_ID:2317221 11690361 TERF1 telomeric repeat binding factor 1 gene DOID:630 genetic disease ISO RGD:1323104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11690385 KCNA3 potassium voltage-gated channel subfamily A member 3 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1342945 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11690385 KCNA3 potassium voltage-gated channel subfamily A member 3 gene DOID:12849 autistic disorder ISO RGD:1342945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11690385 KCNA3 potassium voltage-gated channel subfamily A member 3 gene DOID:630 genetic disease ISO RGD:1342945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11690392 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:0050700 cardiomyopathy ISO RGD:732730 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20378996 11690392 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:0070355 overactive bladder syndrome ISO RGD:732730 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16322346 11690392 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:0080855 Parkinsonism ISO RGD:2037 D RGD:9068941 20200609 RGD PMID:16888218|REF_RGD_ID:2325295 11690392 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:2037 D RGD:9068941 20200609 RGD PMID:15702783|REF_RGD_ID:2325308 11690392 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:12849 autistic disorder ISO RGD:732730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11690392 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:1679 cystitis ISO RGD:2037 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder urothelium PMID:18563302|REF_RGD_ID:2315964 11690392 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:2018 hyperinsulinism ISO RGD:10084 D RGD:9068941 20200609 RGD PMID:14742740|REF_RGD_ID:2325255 11690392 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:3602 toxic encephalopathy ISO RGD:732730 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29604313 11690392 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 11690392 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:630 genetic disease ISO RGD:732730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11690392 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2037 D RGD:9068941 20200609 RGD PMID:15913892|REF_RGD_ID:2325306 11690392 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2037 D RGD:9068941 20200609 RGD protein:altered expression:spinal cord,dorsal root ganglion, urinary bladder PMID:15698618|REF_RGD_ID:2325309 11690392 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:9000998 Brain Injuries ISO RGD:2037 D RGD:9068941 20200609 RGD PMID:16689670|REF_RGD_ID:2325298 11690392 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:9001366 Psychomotor Agitation ISO RGD:732730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17658665 11690392 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:9002221 Hyperplasia ISO RGD:10084 D RGD:9068941 20200609 RGD PMID:14742740|REF_RGD_ID:2325255 11690392 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:9003165 Miosis ISO RGD:732730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8637627 11690392 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:9004001 Facial Nerve Injuries ISO RGD:2037 D RGD:9068941 20200609 RGD mRNA:increased expression:facial VII nucleus PMID:19427307|REF_RGD_ID:2325258 11690392 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2037 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampal granule cell PMID:19647005|REF_RGD_ID:2315956 11690392 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11690392 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2037 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, hypothalamus PMID:9864055|REF_RGD_ID:2325314 11690392 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:9009039 Hyperemia ISO RGD:732730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8637627 11690407 PLXNA4 plexin A4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11690407 PLXNA4 plexin A4 gene DOID:630 genetic disease ISO RGD:1602663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11690443 MED29 mediator complex subunit 29 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1351639 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11690443 MED29 mediator complex subunit 29 gene DOID:630 genetic disease ISO RGD:1351639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11690443 MED29 mediator complex subunit 29 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351639 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11690451 ACSL1 acyl-CoA synthetase long chain family member 1 gene DOID:0050700 cardiomyopathy ISO RGD:737089 D RGD:9068941 20220825 MouseDO 11690451 ACSL1 acyl-CoA synthetase long chain family member 1 gene DOID:305 carcinoma ISO RGD:1342971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11690451 ACSL1 acyl-CoA synthetase long chain family member 1 gene DOID:630 genetic disease ISO RGD:1342971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11690451 ACSL1 acyl-CoA synthetase long chain family member 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1342971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11690451 ACSL1 acyl-CoA synthetase long chain family member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11690451 ACSL1 acyl-CoA synthetase long chain family member 1 gene DOID:9002457 Experimental Arthritis ISO RGD:1342971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988084 11690451 ACSL1 acyl-CoA synthetase long chain family member 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1342971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11690451 ACSL1 acyl-CoA synthetase long chain family member 1 gene DOID:9005587 Starvation ISO RGD:2015 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:15811777|REF_RGD_ID:1625742 11690451 ACSL1 acyl-CoA synthetase long chain family member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1342971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9452481 11690451 ACSL1 acyl-CoA synthetase long chain family member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1342971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11690451 ACSL1 acyl-CoA synthetase long chain family member 1 gene DOID:9007692 Insulin Resistance ISO RGD:1342971 D RGD:9068941 20200609 RGD mRNA:decreased expression:subcutaneous adipose tissue PMID:16788709|REF_RGD_ID:1625735 11690451 ACSL1 acyl-CoA synthetase long chain family member 1 gene DOID:9970 obesity ISO RGD:1342971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 11690451 ACSL1 acyl-CoA synthetase long chain family member 1 gene DOID:9970 obesity ISO RGD:1342971 D RGD:9068941 20200609 RGD mRNA:decreased expression:subcutaneous adipose tissue PMID:16788709|REF_RGD_ID:1625735 11690451 ACSL1 acyl-CoA synthetase long chain family member 1 gene DOID:9970 obesity ISO RGD:2015 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:adipose tissue, liver PMID:1543733|REF_RGD_ID:1625737 11690497 TEX38 testis expressed 38 gene DOID:630 genetic disease ISO RGD:2298822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11690513 PLA2G3 phospholipase A2 group III gene DOID:630 genetic disease ISO RGD:1313284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11690528 YARS1 tyrosyl-tRNA synthetase 1 gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:1316914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate PMID:28492532 11690528 YARS1 tyrosyl-tRNA synthetase 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1316914 D RGD:7240710 20180509 OMIM 11690528 YARS1 tyrosyl-tRNA synthetase 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1316914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:14606043|PMID:16199547|PMID:16429158|PMID:17576681|PMID:19561293|PMID:21384131|PMID:21576112|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25741868|PMID:26138142|PMID:26257172|PMID:26467025|PMID:26975778|PMID:28492532|PMID:29302074|PMID:30304524|PMID:30340945|PMID:31130284|PMID:34352414|PMID:34536092|PMID:9536098 11690528 YARS1 tyrosyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1316914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:14606043|PMID:16429158|PMID:19561293|PMID:26138142|PMID:26257172|PMID:26975778|PMID:28492532 11690528 YARS1 tyrosyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1316914 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16429158|PMID:21384131|PMID:25741868|PMID:26257172|PMID:26467025|PMID:28492532|PMID:29302074|PMID:30340945|PMID:31130284|PMID:34536092 11690528 YARS1 tyrosyl-tRNA synthetase 1 gene DOID:9000988 Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 2 ISO RGD:1316914 D RGD:7240710 20210728 OMIM 11690528 YARS1 tyrosyl-tRNA synthetase 1 gene DOID:9000988 Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 2 ISO RGD:1316914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 PMID:25741868|PMID:26467025|PMID:27633801|PMID:28492532|PMID:29232904|PMID:29302074|PMID:30304524|PMID:31130284|PMID:33490854|PMID:34352414|PMID:34536092 11690528 YARS1 tyrosyl-tRNA synthetase 1 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1316914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:29232904 11690528 YARS1 tyrosyl-tRNA synthetase 1 gene DOID:9005516 Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1 ISO RGD:1316914 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset PMID:25741868 11690528 YARS1 tyrosyl-tRNA synthetase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1316914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:27633801|PMID:33490854 11690540 MPP4 MAGUK p55 scaffold protein 4 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:733195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11690540 MPP4 MAGUK p55 scaffold protein 4 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:733195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11690540 MPP4 MAGUK p55 scaffold protein 4 gene DOID:0110983 Joubert syndrome 14 ISO RGD:733195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 14 PMID:11586298|PMID:22152675|PMID:24315819|PMID:28492532 11690540 MPP4 MAGUK p55 scaffold protein 4 gene DOID:630 genetic disease ISO RGD:733195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11690540 MPP4 MAGUK p55 scaffold protein 4 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:733195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 11690540 MPP4 MAGUK p55 scaffold protein 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11690540 MPP4 MAGUK p55 scaffold protein 4 gene DOID:9005843 Hereditary Spastic Paralysis, Infantile Onset Ascending ISO RGD:733195 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis PMID:11586298|PMID:22152675|PMID:24315819|PMID:28492532 11690540 MPP4 MAGUK p55 scaffold protein 4 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:733195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11690540 MPP4 MAGUK p55 scaffold protein 4 gene DOID:9008086 Developmental Disabilities ISO RGD:733195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11690567 TSR1 TSR1 ribosome maturation factor gene DOID:0070297 primary microcephaly ISO RGD:1603994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:25741868 11690567 TSR1 TSR1 ribosome maturation factor gene DOID:630 genetic disease ISO RGD:1603994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11690567 TSR1 TSR1 ribosome maturation factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11690586 SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1605688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11690586 SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1605688 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11690586 SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1605688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11690586 SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1605688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11690586 SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1605688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11690586 SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0110994 Joubert syndrome 25 ISO RGD:1605688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11690586 SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0111934 immunodeficiency 38 ISO RGD:1605688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11690586 SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0111935 immunodeficiency 16 ISO RGD:1605688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11690586 SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11690586 SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11690586 SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1605688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11690586 SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1605688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11690595 FCN3 ficolin 3 gene DOID:0050827 rheumatic heart disease ISO RGD:1348305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rheumatic heart disease 11690595 FCN3 ficolin 3 gene DOID:10907 microcephaly ISO RGD:1348305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11690595 FCN3 ficolin 3 gene DOID:612 primary immunodeficiency disease ISO RGD:1348305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19535802 11690595 FCN3 ficolin 3 gene DOID:630 genetic disease ISO RGD:1348305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11690595 FCN3 ficolin 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1348305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11690595 FCN3 ficolin 3 gene DOID:9003220 Immunodeficiency due to Ficolin 3 Deficiency ISO RGD:1348305 D RGD:7240710 20180509 OMIM 11690595 FCN3 ficolin 3 gene DOID:9003220 Immunodeficiency due to Ficolin 3 Deficiency ISO RGD:1348305 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency due to ficolin 3 deficiency | ClinVar Annotator: match by term: LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 3 PMID:19535802|PMID:20971976|PMID:22226667|PMID:25662573|PMID:25741868|PMID:28492532 11690605 SDC4 syndecan 4 gene DOID:0080600 COVID-19 ISO RGD:730877 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11690605 SDC4 syndecan 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:730877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 11690605 SDC4 syndecan 4 gene DOID:104 bacterial infectious disease ISO RGD:3650 D RGD:9068941 20200609 RGD PMID:15001228|REF_RGD_ID:2312325 11690605 SDC4 syndecan 4 gene DOID:2234 focal epilepsy ISO RGD:730877 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11690605 SDC4 syndecan 4 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22919003 11690605 SDC4 syndecan 4 gene DOID:5844 myocardial infarction ISO RGD:730877 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:11372670|REF_RGD_ID:2312328 11690605 SDC4 syndecan 4 gene DOID:630 genetic disease ISO RGD:730877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11690605 SDC4 syndecan 4 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:730877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11690605 SDC4 syndecan 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 11690614 MAGOHB mago homolog B, exon junction complex subunit gene DOID:5119 ovarian cyst ISO RGD:1602707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 11690614 MAGOHB mago homolog B, exon junction complex subunit gene DOID:630 genetic disease ISO RGD:1602707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11690623 ATOX1 antioxidant 1 copper chaperone gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:737338 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11690623 ATOX1 antioxidant 1 copper chaperone gene DOID:10763 hypertension ISO RGD:737338 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22753205 11690623 ATOX1 antioxidant 1 copper chaperone gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:732672 D RGD:9068941 20200609 RGD protein:increased expression:spinal chord PMID:19656261|REF_RGD_ID:13524567 11690623 ATOX1 antioxidant 1 copper chaperone gene DOID:630 genetic disease ISO RGD:737338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11690623 ATOX1 antioxidant 1 copper chaperone gene DOID:9005172 Lung Neoplasms ISO RGD:737338 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23624903 11690623 ATOX1 antioxidant 1 copper chaperone gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737338 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11690623 ATOX1 antioxidant 1 copper chaperone gene DOID:9008443 Colorectal Neoplasms ISO RGD:737338 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31961892 11690623 ATOX1 antioxidant 1 copper chaperone gene DOID:9008510 Chronic Hepatitis ISO RGD:737338 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 11690631 RNF26 ring finger protein 26 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1314288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 11690631 RNF26 ring finger protein 26 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1314288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11690631 RNF26 ring finger protein 26 gene DOID:0080690 RASopathy ISO RGD:1314288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11690631 RNF26 ring finger protein 26 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1314288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 11690631 RNF26 ring finger protein 26 gene DOID:0111971 immunodeficiency 18 ISO RGD:1314288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 11690631 RNF26 ring finger protein 26 gene DOID:0111972 immunodeficiency 19 ISO RGD:1314288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 11690631 RNF26 ring finger protein 26 gene DOID:0111973 immunodeficiency 17 ISO RGD:1314288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 11690631 RNF26 ring finger protein 26 gene DOID:5419 schizophrenia ISO RGD:1314288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11690631 RNF26 ring finger protein 26 gene DOID:630 genetic disease ISO RGD:1314288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11690631 RNF26 ring finger protein 26 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1314288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11690631 RNF26 ring finger protein 26 gene DOID:9007661 Dwarfism ISO RGD:1314288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11690645 SLC45A4 solute carrier family 45 member 4 gene DOID:630 genetic disease ISO RGD:1607016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11690669 CD48 CD48 molecule gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1352782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11690669 CD48 CD48 molecule gene DOID:1540 parathyroid carcinoma ISO RGD:1352782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11690669 CD48 CD48 molecule gene DOID:630 genetic disease ISO RGD:1352782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11690669 CD48 CD48 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11690669 CD48 CD48 molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11690680 SLC6A18 solute carrier family 6 member 18 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1346320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 11690680 SLC6A18 solute carrier family 6 member 18 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1346320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 11690680 SLC6A18 solute carrier family 6 member 18 gene DOID:10763 hypertension ISO RGD:1346320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15121838 11690680 SLC6A18 solute carrier family 6 member 18 gene DOID:630 genetic disease ISO RGD:1346320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11690680 SLC6A18 solute carrier family 6 member 18 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1346320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 11690701 RASGRP2 RAS guanyl releasing protein 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1323188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11690701 RASGRP2 RAS guanyl releasing protein 2 gene DOID:0111051 platelet-type bleeding disorder 18 ISO RGD:1323188 D RGD:7240710 20180130 OMIM 11690701 RASGRP2 RAS guanyl releasing protein 2 gene DOID:0111051 platelet-type bleeding disorder 18 ISO RGD:1323188 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Platelet-type bleeding disorder 18 PMID:24958846|PMID:25741868|PMID:27235135|PMID:28983057|PMID:31064749|PMID:32581362|PMID:34355501 11690701 RASGRP2 RAS guanyl releasing protein 2 gene DOID:1059 intellectual disability ISO RGD:1323188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11690701 RASGRP2 RAS guanyl releasing protein 2 gene DOID:2213 hemorrhagic disease ISO RGD:1323188 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28983057|PMID:31064749 11690701 RASGRP2 RAS guanyl releasing protein 2 gene DOID:3070 high grade glioma ISO RGD:1323188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11690701 RASGRP2 RAS guanyl releasing protein 2 gene DOID:630 genetic disease ISO RGD:1323188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11690744 ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11690744 ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1604545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 11690744 ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 gene DOID:1826 epilepsy ISO RGD:1604545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11690744 ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604545 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11690744 ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1604545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 11690744 ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 gene DOID:630 genetic disease ISO RGD:1604545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11690744 ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 gene DOID:9007661 Dwarfism ISO RGD:1604545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11690744 ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 gene DOID:9008386 Hydrops Fetalis ISO RGD:1604545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 11690786 LSM6 LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1345160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 11690806 ATP11B ATPase phospholipid transporting 11B (putative) gene DOID:0111546 Currarino syndrome ISO RGD:1348822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11690806 ATP11B ATPase phospholipid transporting 11B (putative) gene DOID:630 genetic disease ISO RGD:1348822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11690846 HADH hydroxyacyl-CoA dehydrogenase gene DOID:0060071 pre-malignant neoplasm ISO RGD:1351201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11690846 HADH hydroxyacyl-CoA dehydrogenase gene DOID:0070215 familial hyperinsulinemic hypoglycemia 4 ISO RGD:1351201 D RGD:7240710 20190315 OMIM 11690846 HADH hydroxyacyl-CoA dehydrogenase gene DOID:0070215 familial hyperinsulinemic hypoglycemia 4 ISO RGD:1351201 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 | ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency PMID:11489939|PMID:14693719|PMID:16725361|PMID:18414213|PMID:19318379|PMID:21252247|PMID:21347589|PMID:22579592|PMID:22662265|PMID:23273570|PMID:25741868|PMID:27104957|PMID:28492532|PMID:29280746|PMID:32876354|PMID:34055426|PMID:34547194|PMID:904979 11690846 HADH hydroxyacyl-CoA dehydrogenase gene DOID:0070215 familial hyperinsulinemic hypoglycemia 4 ISO RGD:1351201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 PMID:11489939|PMID:14693719|PMID:16725361|PMID:18414213|PMID:19318379|PMID:21252247|PMID:21347589|PMID:22579592|PMID:22662265|PMID:23273570|PMID:25741868|PMID:27104957|PMID:28492532|PMID:29280746|PMID:32876354|PMID:34055426|PMID:34547194|PMID:8825408|PMID:904979 11690846 HADH hydroxyacyl-CoA dehydrogenase gene DOID:0070219 familial hyperinsulinemic hypoglycemia 1 ISO RGD:1351201 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 PMID:25741868|PMID:28492532|PMID:29280746|PMID:34055426|PMID:34547194 11690846 HADH hydroxyacyl-CoA dehydrogenase gene DOID:13317 hyperinsulinemic hypoglycemia ISO RGD:1351201 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia PMID:16725361|PMID:21347589|PMID:25741868|PMID:27104957|PMID:28492532|PMID:29280746|PMID:32876354|PMID:34055426|PMID:34547194|PMID:8825408 11690846 HADH hydroxyacyl-CoA dehydrogenase gene DOID:2018 hyperinsulinism ISO RGD:1351201 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive PMID:25741868|PMID:28492532|PMID:29280746|PMID:34055426|PMID:34547194 11690846 HADH hydroxyacyl-CoA dehydrogenase gene DOID:5844 myocardial infarction ISO RGD:69321 D RGD:9068941 20200609 RGD PMID:11481570|REF_RGD_ID:2302229 11690846 HADH hydroxyacyl-CoA dehydrogenase gene DOID:630 genetic disease ISO RGD:1351201 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29280746|PMID:34055426|PMID:34547194 11690846 HADH hydroxyacyl-CoA dehydrogenase gene DOID:9001715 3-Hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:1351201 D RGD:7240710 20190315 OMIM 11690846 HADH hydroxyacyl-CoA dehydrogenase gene DOID:9001715 3-Hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:1351201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deficiency of 3-hydroxyacyl-CoA dehydrogenase PMID:16725361|PMID:18414213|PMID:21347589|PMID:22579592|PMID:22662265|PMID:25741868|PMID:27104957|PMID:28492532|PMID:29280746|PMID:32876354|PMID:34055426|PMID:34547194|PMID:8825408 11690846 HADH hydroxyacyl-CoA dehydrogenase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69321 D RGD:9068941 20200609 RGD PMID:7050060|REF_RGD_ID:2302232 11690846 HADH hydroxyacyl-CoA dehydrogenase gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:1351201 D RGD:9068941 20200609 RGD DNA:deletion:cds (human) PMID:14693719|REF_RGD_ID:2306664 11690846 HADH hydroxyacyl-CoA dehydrogenase gene DOID:9351 diabetes mellitus ISO RGD:1351201 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:22662265|PMID:25741868|PMID:27104957|PMID:28492532|PMID:29280746|PMID:34055426|PMID:34547194 11690846 HADH hydroxyacyl-CoA dehydrogenase gene DOID:9970 obesity ISO RGD:1351201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 11690846 HADH hydroxyacyl-CoA dehydrogenase gene DOID:9970 obesity ISO RGD:69321 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:16088331|REF_RGD_ID:2302228 11690902 ZNF777 zinc finger protein 777 gene DOID:630 genetic disease ISO RGD:1604021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11690922 SP5 Sp5 transcription factor gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1318302 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11690922 SP5 Sp5 transcription factor gene DOID:630 genetic disease ISO RGD:1318302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11690922 SP5 Sp5 transcription factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11690928 PLPPR3 phospholipid phosphatase related 3 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1602461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 11690928 PLPPR3 phospholipid phosphatase related 3 gene DOID:5339 cyclic hematopoiesis ISO RGD:1602461 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11690928 PLPPR3 phospholipid phosphatase related 3 gene DOID:630 genetic disease ISO RGD:1602461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11690944 LOC100971371 olfactory receptor 5M9 gene DOID:1059 intellectual disability ISO RGD:1347852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11690944 LOC100971371 olfactory receptor 5M9 gene DOID:630 genetic disease ISO RGD:1347852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11690945 VWA3A von Willebrand factor A domain containing 3A gene DOID:0080114 mitochondrial complex III deficiency nuclear type 5 ISO RGD:1641961 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 5 PMID:25741868 11690945 VWA3A von Willebrand factor A domain containing 3A gene DOID:11054 urinary bladder cancer ISO RGD:1641961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 11690945 VWA3A von Willebrand factor A domain containing 3A gene DOID:12849 autistic disorder ISO RGD:1641961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11690945 VWA3A von Willebrand factor A domain containing 3A gene DOID:5419 schizophrenia ISO RGD:1641961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11690945 VWA3A von Willebrand factor A domain containing 3A gene DOID:630 genetic disease ISO RGD:1641961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11690984 TAF11 TATA-box binding protein associated factor 11 gene DOID:0050553 JMP syndrome ISO RGD:1313766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11690984 TAF11 TATA-box binding protein associated factor 11 gene DOID:630 genetic disease ISO RGD:1313766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11690995 DNAH11 dynein axonemal heavy chain 11 gene DOID:0050144 Kartagener syndrome ISO RGD:1620923 D RGD:9068941 20220825 MouseDO 11690995 DNAH11 dynein axonemal heavy chain 11 gene DOID:0050144 Kartagener syndrome susceptibility ISO RGD:1348566 D RGD:9068941 20200609 RGD DNA:nonsense mutation, missense mutation:R2852X, R3004Q PMID:12142464|REF_RGD_ID:734893 11690995 DNAH11 dynein axonemal heavy chain 11 gene DOID:0050545 visceral heterotaxy ISO RGD:1620923 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 11690995 DNAH11 dynein axonemal heavy chain 11 gene DOID:0050651 atrioventricular septal defect ISO RGD:1620923 D RGD:9068941 20220825 MouseDO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 11690995 DNAH11 dynein axonemal heavy chain 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1348566 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11690995 DNAH11 dynein axonemal heavy chain 11 gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:1348566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 11690995 DNAH11 dynein axonemal heavy chain 11 gene DOID:0110605 primary ciliary dyskinesia 7 ISO RGD:1348566 D RGD:7240710 20180130 OMIM 11690995 DNAH11 dynein axonemal heavy chain 11 gene DOID:0110605 primary ciliary dyskinesia 7 ISO RGD:1348566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 7 PMID:12142464|PMID:16199547|PMID:17576681|PMID:18022865|PMID:18616530|PMID:19187973|PMID:20301301|PMID:20513915|PMID:21917145|PMID:22102620|PMID:22184204|PMID:24033266|PMID:24450482|PMID:25741868|PMID:25802884|PMID:26139845|PMID:26729821|PMID:2690980|PMID:26909801|PMID:27637300|PMID:27637763|PMID:28492532|PMID:29467202|PMID:29997923|PMID:30067075|PMID:31040315|PMID:31507630|PMID:31607746|PMID:31772028|PMID:31879361|PMID:32502479|PMID:32622824|PMID:32633470|PMID:32860008|PMID:34008892|PMID:34298581|PMID:34513534|PMID:9536098|PMID:9585585 11690995 DNAH11 dynein axonemal heavy chain 11 gene DOID:12336 male infertility ISO RGD:1348566 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Male infertility PMID:22184204|PMID:25741868 11690995 DNAH11 dynein axonemal heavy chain 11 gene DOID:13088 periventricular leukomalacia ISO RGD:1348566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Periventricular leukomalacia PMID:24033266|PMID:25741868|PMID:28492532 11690995 DNAH11 dynein axonemal heavy chain 11 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11690995 DNAH11 dynein axonemal heavy chain 11 gene DOID:5223 infertility ISO RGD:1348566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infertility PMID:28492532 11690995 DNAH11 dynein axonemal heavy chain 11 gene DOID:630 genetic disease ISO RGD:1348566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 11690995 DNAH11 dynein axonemal heavy chain 11 gene DOID:674 cleft palate ISO RGD:1348566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:24033266|PMID:25741868|PMID:28492532 11690995 DNAH11 dynein axonemal heavy chain 11 gene DOID:9000528 Coronary Disease ISO RGD:1348566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19060911 11690995 DNAH11 dynein axonemal heavy chain 11 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1348566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:24033266|PMID:25741868|PMID:28492532 11690995 DNAH11 dynein axonemal heavy chain 11 gene DOID:9003370 Dyslipidemias ISO RGD:1348566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19060911 11690995 DNAH11 dynein axonemal heavy chain 11 gene DOID:9004657 Weight Gain ISO RGD:1348566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11690995 DNAH11 dynein axonemal heavy chain 11 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1348566 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:18022865|PMID:20513915|PMID:21911699|PMID:22102620|PMID:22184204|PMID:22499950|PMID:22749724|PMID:23998934|PMID:24033266|PMID:24450482|PMID:25640679|PMID:25741868|PMID:25802884|PMID:26139845|PMID:26729821|PMID:2690980|PMID:26909801|PMID:27637300|PMID:27637763|PMID:28492532|PMID:29363216|PMID:29467202|PMID:29997923|PMID:30067075|PMID:30359267|PMID:30919572|PMID:31040315|PMID:31213628|PMID:31507630|PMID:31607746|PMID:31633846|PMID:31772028|PMID:31879361|PMID:32367404|PMID:32502479|PMID:32622824|PMID:33240318|PMID:33577779|PMID:33715250|PMID:34008892|PMID:34210339|PMID:34513534|PMID:9536098 11691079 ATG3 autophagy related 3 gene DOID:630 genetic disease ISO RGD:1353416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691096 DKK1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:11832 visual epilepsy ISO RGD:1307313 D RGD:9068941 20200609 RGD PMID:17437412|REF_RGD_ID:6907384 11691096 DKK1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:13714 anodontia ISO RGD:1316435 D RGD:9068941 20200609 RGD DNA:SNP: :rs11001553 (human) PMID:22984994|REF_RGD_ID:12738234 11691096 DKK1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:289 endometriosis ISO RGD:1316435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 11691096 DKK1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:630 genetic disease ISO RGD:1316435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691096 DKK1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1307313 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:20019166|REF_RGD_ID:6907383 11691096 DKK1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1307313 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21567076|REF_RGD_ID:6907380 11691096 DKK1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1316436 D RGD:9068941 20200609 RGD PMID:21773994|REF_RGD_ID:6907379 11691096 DKK1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1307313 D RGD:9068941 20200609 RGD PMID:20131282|REF_RGD_ID:6907382 11691096 DKK1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:9002589 Bone Fractures ISO RGD:1316435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22504420 11691096 DKK1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:9003536 Familial Thoracic Aortic Aneurysm 8 ISO RGD:1316435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 PMID:28492532 11691096 DKK1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:9008763 Femoral Fractures ISO RGD:1307313 D RGD:9068941 20200609 RGD PMID:21773994|REF_RGD_ID:6907379 11691096 DKK1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1316435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18283316 11691104 NFX1 nuclear transcription factor, X-box binding 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1321083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11691104 NFX1 nuclear transcription factor, X-box binding 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1321083 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11691104 NFX1 nuclear transcription factor, X-box binding 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1321083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11691104 NFX1 nuclear transcription factor, X-box binding 1 gene DOID:630 genetic disease ISO RGD:1321083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691104 NFX1 nuclear transcription factor, X-box binding 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11691104 NFX1 nuclear transcription factor, X-box binding 1 gene DOID:9870 galactosemia ISO RGD:1321083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11691141 PRRG2 proline rich and Gla domain 2 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1313475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11691141 PRRG2 proline rich and Gla domain 2 gene DOID:630 genetic disease ISO RGD:1313475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691152 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:10598 D RGD:9068941 20220825 MouseDO OMIM:178500 11691152 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:733116 D RGD:9068941 20220825 RGD mRNA,protein:increased expression:tongue (human) PMID:26581505|REF_RGD_ID:11535375 11691152 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:0050866 oral squamous cell carcinoma ISO RGD:733116 D RGD:9068941 20220826 RGD mRNA, protein:increased expression:mouth (human) PMID:34111459|REF_RGD_ID:153344573 11691152 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:733116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11691152 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:234 colon adenocarcinoma ISO RGD:733116 D RGD:9068941 20220826 RGD protein:increased expression:colon (human) PMID:22419013|REF_RGD_ID:153344572 11691152 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:3068 glioblastoma ISO RGD:733116 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23582323 11691152 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:733116 D RGD:9068941 20220818 RGD protein:increased expression:lung (human) PMID:25375657|REF_RGD_ID:11074609 11691152 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:418 systemic scleroderma ISO RGD:10598 D RGD:9068941 20220825 MouseDO OMIM:181750 11691152 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:4451 renal carcinoma ISO RGD:2628 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:9405228|REF_RGD_ID:2293758 11691152 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:630 genetic disease ISO RGD:733116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691152 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:676 juvenile rheumatoid arthritis ISO RGD:733116 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11691152 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:684 hepatocellular carcinoma ISO RGD:733116 D RGD:9068941 20220819 RGD mRNA:increased expression:liver (human) PMID:30086463|PMID:32048611|REF_RGD_ID:153344517|REF_RGD_ID:153344521 11691152 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:9004009 Reperfusion Injury ISO RGD:2628 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:15121240|REF_RGD_ID:2293779 11691152 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:9005172 Lung Neoplasms ISO RGD:733116 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 11691152 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:9006618 Liver Metastasis ISO RGD:733116 D RGD:9068941 20220825 RGD human cells in mouse model PMID:30114390|REF_RGD_ID:153344554 11691152 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:9009121 lung metastasis ISO RGD:733116 D RGD:9068941 20220825 RGD human cells in mouse model PMID:30326930|REF_RGD_ID:153344557 11691152 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:9256 colorectal cancer ISO RGD:733116 D RGD:9068941 20220825 RGD MRNA, protein:increased expression:colon (human) PMID:35034245|REF_RGD_ID:153344553 11691152 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:9256 colorectal cancer ISO RGD:733116 D RGD:9068941 20220825 RGD mRNA:increased expression:colon (human) PMID:30114390|REF_RGD_ID:153344554 11691152 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:9261 nasopharynx carcinoma ISO RGD:733116 D RGD:9068941 20220825 RGD mRNA:increased expression:nasopharynx (human) PMID:30326930|REF_RGD_ID:153344557 11691167 FCHO2 FCH and mu domain containing endocytic adaptor 2 gene DOID:630 genetic disease ISO RGD:1348405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691167 FCHO2 FCH and mu domain containing endocytic adaptor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11691197 IER3IP1 immediate early response 3 interacting protein 1 gene DOID:0060356 Vici syndrome ISO RGD:1352833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 11691197 IER3IP1 immediate early response 3 interacting protein 1 gene DOID:1059 intellectual disability ISO RGD:1352833 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11691197 IER3IP1 immediate early response 3 interacting protein 1 gene DOID:1826 epilepsy ISO RGD:1352833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:29358611 11691197 IER3IP1 immediate early response 3 interacting protein 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1352833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:29358611 11691197 IER3IP1 immediate early response 3 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1352833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11691197 IER3IP1 immediate early response 3 interacting protein 1 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1352833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:16972080|PMID:17576681|PMID:21835305|PMID:22991235|PMID:23771172|PMID:24138066|PMID:25741868|PMID:28492532|PMID:28711742|PMID:31264968|PMID:9536098 11691197 IER3IP1 immediate early response 3 interacting protein 1 gene DOID:9004175 Microcephaly, Epilepsy, and Diabetes Syndrome 1 ISO RGD:1352833 D RGD:7240710 20210421 OMIM 11691197 IER3IP1 immediate early response 3 interacting protein 1 gene DOID:9004175 Microcephaly, Epilepsy, and Diabetes Syndrome 1 ISO RGD:1352833 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome 1 PMID:16972080|PMID:21835305|PMID:22991235|PMID:23771172|PMID:24138066|PMID:25741868|PMID:28492532|PMID:28711742 11691209 PDLIM3 PDZ and LIM domain 3 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:733817 D RGD:9068941 20220825 MouseDO 11691209 PDLIM3 PDZ and LIM domain 3 gene DOID:0050700 cardiomyopathy ISO RGD:1351346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 11691209 PDLIM3 PDZ and LIM domain 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1351346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 11691209 PDLIM3 PDZ and LIM domain 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1351346 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17254821|PMID:24033266|PMID:25741868|PMID:28492532 11691209 PDLIM3 PDZ and LIM domain 3 gene DOID:12849 autistic disorder ISO RGD:1351346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11691209 PDLIM3 PDZ and LIM domain 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17254821|PMID:17576681|PMID:20801532|PMID:24033266|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:9536098 11691209 PDLIM3 PDZ and LIM domain 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17254821|PMID:17576681|PMID:20801532|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:31983221|PMID:9536098 11691209 PDLIM3 PDZ and LIM domain 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351346 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17254821|PMID:17576681|PMID:20801532|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:31983221|PMID:32746448|PMID:9536098 11691209 PDLIM3 PDZ and LIM domain 3 gene DOID:397 restrictive cardiomyopathy ISO RGD:1351346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:25741868 11691209 PDLIM3 PDZ and LIM domain 3 gene DOID:630 genetic disease ISO RGD:1351346 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 11691209 PDLIM3 PDZ and LIM domain 3 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1351346 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 11691227 TFF2 trefoil factor 2 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:731368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11691227 TFF2 trefoil factor 2 gene DOID:0110266 cataract 9 multiple types ISO RGD:731368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11691227 TFF2 trefoil factor 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:731368 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16467092|REF_RGD_ID:2291999 11691227 TFF2 trefoil factor 2 gene DOID:630 genetic disease ISO RGD:731368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691227 TFF2 trefoil factor 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:731368 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11691227 TFF2 trefoil factor 2 gene DOID:9004610 Acute Lung Injury ISO RGD:731368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19880587 11691227 TFF2 trefoil factor 2 gene DOID:9006535 Hookworm Infections ISO RGD:731369 D RGD:9068941 20201015 RGD PMID:22329990|REF_RGD_ID:39938827 11691227 TFF2 trefoil factor 2 gene DOID:9008114 Helicobacter Infections ISO RGD:731368 D RGD:9068941 20200609 RGD protein:increased expression:stomach epithelium PMID:15280409|REF_RGD_ID:7364760 11691227 TFF2 trefoil factor 2 gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:731369 D RGD:9068941 20200828 RGD mRNA:altered expression:gastric antrum (mouse) PMID:29085807|REF_RGD_ID:38549349 11691227 TFF2 trefoil factor 2 gene DOID:9263 homocystinuria ISO RGD:731368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11691227 TFF2 trefoil factor 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:731368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11691235 ACLY ATP citrate lyase gene DOID:6000 congestive heart failure ISO RGD:10065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 11691235 ACLY ATP citrate lyase gene DOID:630 genetic disease ISO RGD:10065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691235 ACLY ATP citrate lyase gene DOID:684 hepatocellular carcinoma ISO RGD:10065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 11691235 ACLY ATP citrate lyase gene DOID:9970 obesity ISO RGD:10065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 11691269 HAGHL hydroxyacylglutathione hydrolase like gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1317582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 11691269 HAGHL hydroxyacylglutathione hydrolase like gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1317582 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11691269 HAGHL hydroxyacylglutathione hydrolase like gene DOID:1826 epilepsy ISO RGD:1317582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11691269 HAGHL hydroxyacylglutathione hydrolase like gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1317582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11691269 HAGHL hydroxyacylglutathione hydrolase like gene DOID:630 genetic disease ISO RGD:1317582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691281 ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:2303680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11691281 ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:2303680 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11691281 ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator gene DOID:0110541 autosomal dominant nonsyndromic deafness 1 ISO RGD:2303680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA PMID:28492532 11691281 ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:2303680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 11691281 ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator gene DOID:630 genetic disease ISO RGD:2303680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691281 ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2303680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11691281 ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:2303680 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11691303 TBC1D2 TBC1 domain family member 2 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1315719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 11691303 TBC1D2 TBC1 domain family member 2 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1315719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 11691303 TBC1D2 TBC1 domain family member 2 gene DOID:0080600 COVID-19 ISO RGD:1315719 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11691303 TBC1D2 TBC1 domain family member 2 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1315719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 11691303 TBC1D2 TBC1 domain family member 2 gene DOID:1059 intellectual disability ISO RGD:1315719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11691303 TBC1D2 TBC1 domain family member 2 gene DOID:12712 nephronophthisis ISO RGD:1315719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 11691303 TBC1D2 TBC1 domain family member 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1315719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 11691303 TBC1D2 TBC1 domain family member 2 gene DOID:630 genetic disease ISO RGD:1315719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691303 TBC1D2 TBC1 domain family member 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:1315719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 11691303 TBC1D2 TBC1 domain family member 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11691323 PDGFC platelet derived growth factor C gene DOID:0080600 COVID-19 ISO RGD:68605 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11691323 PDGFC platelet derived growth factor C gene DOID:630 genetic disease ISO RGD:68605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691323 PDGFC platelet derived growth factor C gene DOID:9003566 Mesothelioma ISO RGD:68605 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15920167 11691339 PCGF1 polycomb group ring finger 1 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1349943 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11691339 PCGF1 polycomb group ring finger 1 gene DOID:543 dystonia ISO RGD:1349943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11691339 PCGF1 polycomb group ring finger 1 gene DOID:630 genetic disease ISO RGD:1349943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691339 PCGF1 polycomb group ring finger 1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1349943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11691352 SLC25A2 solute carrier family 25 member 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1347291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11691352 SLC25A2 solute carrier family 25 member 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347291 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11691352 SLC25A2 solute carrier family 25 member 2 gene DOID:630 genetic disease ISO RGD:1347291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691352 SLC25A2 solute carrier family 25 member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11691352 SLC25A2 solute carrier family 25 member 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 11691352 SLC25A2 solute carrier family 25 member 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347291 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11691358 ARF5 ADP ribosylation factor 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11691358 ARF5 ADP ribosylation factor 5 gene DOID:630 genetic disease ISO RGD:732462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691368 WIPF1 WAS/WASL interacting protein family member 1 gene DOID:0060224 atrial fibrillation ISO RGD:736993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 11691368 WIPF1 WAS/WASL interacting protein family member 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:736993 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11691368 WIPF1 WAS/WASL interacting protein family member 1 gene DOID:630 genetic disease ISO RGD:736993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11691368 WIPF1 WAS/WASL interacting protein family member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11691368 WIPF1 WAS/WASL interacting protein family member 1 gene DOID:9004016 Wiskott-Aldrich Syndrome 2 ISO RGD:736993 D RGD:7240710 20180130 OMIM 11691368 WIPF1 WAS/WASL interacting protein family member 1 gene DOID:9004016 Wiskott-Aldrich Syndrome 2 ISO RGD:736993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2 PMID:17576681|PMID:22231303|PMID:24033266|PMID:25741868|PMID:27742395|PMID:28492532|PMID:9536098 11691368 WIPF1 WAS/WASL interacting protein family member 1 gene DOID:9169 Wiskott-Aldrich syndrome ISO RGD:736993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11691378 MARVELD2 MARVEL domain containing 2 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1345417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587 11691378 MARVELD2 MARVEL domain containing 2 gene DOID:0110506 autosomal recessive nonsyndromic deafness 49 ISO RGD:1345417 D RGD:7240710 20180130 OMIM 11691378 MARVELD2 MARVEL domain containing 2 gene DOID:0110506 autosomal recessive nonsyndromic deafness 49 ISO RGD:1345417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 49 | ClinVar Annotator: match by term: Deafness, neurosensory, autosomal recessive 49 PMID:16199547|PMID:17186462|PMID:18084694|PMID:22097895|PMID:23767834|PMID:23979167|PMID:24033266|PMID:25652404|PMID:25666562|PMID:25741868|PMID:25788563|PMID:25885414|PMID:26467025|PMID:28492532|PMID:30311386|PMID:31850270|PMID:32747562|PMID:33597575 11691378 MARVELD2 MARVEL domain containing 2 gene DOID:630 genetic disease ISO RGD:1345417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 11691378 MARVELD2 MARVEL domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11691378 MARVELD2 MARVEL domain containing 2 gene DOID:9004538 Hearing Loss ISO RGD:1345417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:17186462|PMID:18084694|PMID:24033266|PMID:25741868|PMID:30311386 11691378 MARVELD2 MARVEL domain containing 2 gene DOID:9004538 Hearing Loss ISO RGD:1345417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:16199547|PMID:17186462|PMID:18084694|PMID:22097895|PMID:24033266|PMID:25666562|PMID:25741868|PMID:28492532|PMID:30311386 11691378 MARVELD2 MARVEL domain containing 2 gene DOID:9008681 Deafness ISO RGD:1345417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 11691395 LOC100988799 chromosome 13 C13orf46 homolog gene DOID:2222 factor X deficiency ISO RGD:13462007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 11691410 CFL2 cofilin 2 gene DOID:0060224 atrial fibrillation ISO RGD:1315906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 11691410 CFL2 cofilin 2 gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:1315906 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 PMID:28492532 11691410 CFL2 cofilin 2 gene DOID:0110934 nemaline myopathy 7 ISO RGD:1315906 D RGD:7240710 20180130 OMIM 11691410 CFL2 cofilin 2 gene DOID:0110934 nemaline myopathy 7 ISO RGD:1315906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 7 PMID:17160903|PMID:17576681|PMID:18414213|PMID:22560515|PMID:24610938|PMID:25741868|PMID:27447704|PMID:28492532|PMID:29457652|PMID:9536098 11691410 CFL2 cofilin 2 gene DOID:3191 nemaline myopathy ISO RGD:1315906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Recessive PMID:28492532 11691410 CFL2 cofilin 2 gene DOID:630 genetic disease ISO RGD:1315906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691410 CFL2 cofilin 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1315906 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11691410 CFL2 cofilin 2 gene DOID:9005532 Muscle Weakness ISO RGD:1315906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:28492532 11691423 VIPR2 vasoactive intestinal peptide receptor 2 gene DOID:0060180 colitis ISO RGD:737317 D RGD:9068941 20200609 RGD PMID:21295288|REF_RGD_ID:5685384 11691423 VIPR2 vasoactive intestinal peptide receptor 2 gene DOID:12849 autistic disorder ISO RGD:1351062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11691423 VIPR2 vasoactive intestinal peptide receptor 2 gene DOID:2661 myoepithelioma ISO RGD:1351062 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11691423 VIPR2 vasoactive intestinal peptide receptor 2 gene DOID:5419 schizophrenia ISO RGD:1351062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11691423 VIPR2 vasoactive intestinal peptide receptor 2 gene DOID:630 genetic disease ISO RGD:1351062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691450 FUBP3 far upstream element binding protein 3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1315940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11691450 FUBP3 far upstream element binding protein 3 gene DOID:630 genetic disease ISO RGD:1315940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691450 FUBP3 far upstream element binding protein 3 gene DOID:9273 citrullinemia ISO RGD:1315940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Citrullinemia PMID:28492532 11691500 FGF19 fibroblast growth factor 19 gene DOID:0060180 colitis ISO RGD:1550725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27580383 11691500 FGF19 fibroblast growth factor 19 gene DOID:1059 intellectual disability ISO RGD:1344909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11691500 FGF19 fibroblast growth factor 19 gene DOID:12351 alcoholic hepatitis treatment ISO RGD:620166 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 11691500 FGF19 fibroblast growth factor 19 gene DOID:5082 liver cirrhosis ISO RGD:1550725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28673684 11691500 FGF19 fibroblast growth factor 19 gene DOID:630 genetic disease ISO RGD:1344909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691500 FGF19 fibroblast growth factor 19 gene DOID:684 hepatocellular carcinoma ISO RGD:1344909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25822088 11691500 FGF19 fibroblast growth factor 19 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1344909 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11691500 FGF19 fibroblast growth factor 19 gene DOID:9004250 Hepatic Insufficiency ISO RGD:1550725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28673684 11691500 FGF19 fibroblast growth factor 19 gene DOID:9005749 Necrosis ISO RGD:1550725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24699334 11691500 FGF19 fibroblast growth factor 19 gene DOID:9006646 Metabolic Syndrome ISO RGD:1550725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28673684 11691500 FGF19 fibroblast growth factor 19 gene DOID:9007692 Insulin Resistance ISO RGD:1550725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28673684 11691500 FGF19 fibroblast growth factor 19 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1344909 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11691507 PERP p53 apoptosis effector related to PMP22 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1321113 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 11691507 PERP p53 apoptosis effector related to PMP22 gene DOID:630 genetic disease ISO RGD:1321113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691507 PERP p53 apoptosis effector related to PMP22 gene DOID:9000198 Erythrokeratodermia Variabilis et Progressiva 7 ISO RGD:1321113 D RGD:7240710 20210303 OMIM 11691507 PERP p53 apoptosis effector related to PMP22 gene DOID:9000198 Erythrokeratodermia Variabilis et Progressiva 7 ISO RGD:1321113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 7 PMID:30321533|PMID:31898316 11691507 PERP p53 apoptosis effector related to PMP22 gene DOID:9008575 Olmsted Syndrome 2 ISO RGD:1321113 D RGD:7240710 20210303 OMIM 11691507 PERP p53 apoptosis effector related to PMP22 gene DOID:9008575 Olmsted Syndrome 2 ISO RGD:1321113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Olmsted syndrome 2 PMID:30321533|PMID:31361044 11691514 CDH6 cadherin 6 gene DOID:630 genetic disease ISO RGD:735712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691514 CDH6 cadherin 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11691514 CDH6 cadherin 6 gene DOID:9007346 Cachexia ISO RGD:735712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17878525 11691534 MOGAT3 monoacylglycerol O-acyltransferase 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11691534 MOGAT3 monoacylglycerol O-acyltransferase 3 gene DOID:630 genetic disease ISO RGD:1350436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691534 MOGAT3 monoacylglycerol O-acyltransferase 3 gene DOID:9008533 Plasminogen Activator Inhibitor-1 Deficiency ISO RGD:1350436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY PMID:21681106 11691550 LOC100969680 protein S gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1342781 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 11691550 LOC100969680 protein S gene DOID:0060903 thrombosis ISO RGD:1342781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10706858|PMID:11132655 11691550 LOC100969680 protein S gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1342781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome PMID:11127877|PMID:11858485|PMID:20880255|PMID:24014240|PMID:24055113|PMID:25637381|PMID:25741868|PMID:28492532|PMID:31064749 11691550 LOC100969680 protein S gene DOID:0111003 Joubert syndrome 8 ISO RGD:1342781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 8 PMID:28492532 11691550 LOC100969680 protein S gene DOID:0111900 autosomal dominant thrombophilia due to protein S deficiency ISO RGD:1342781 D RGD:7240710 20180130 OMIM 11691550 LOC100969680 protein S gene DOID:0111900 autosomal dominant thrombophilia due to protein S deficiency ISO RGD:1342781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal dominant PMID:10447256|PMID:10456456|PMID:10669162|PMID:10706858|PMID:10790208|PMID:10811787|PMID:10887114|PMID:11127877|PMID:11858485|PMID:12960605|PMID:15147381|PMID:15175796|PMID:15238143|PMID:1547381|PMID:15712227|PMID:15978566|PMID:16100035|PMID:16461766|PMID:16961607|PMID:16961608|PMID:17157360|PMID:17576681|PMID:18322254|PMID:18435454|PMID:18841302|PMID:18954896|PMID:19826897|PMID:20811787|PMID:20880255|PMID:21172841|PMID:21285903|PMID:2143091|PMID:21486865|PMID:21764424|PMID:21764702|PMID:21811774|PMID:22261441|PMID:22273984|PMID:22627591|PMID:23813890|PMID:24014240|PMID:24033266|PMID:24055113|PMID:24119292|PMID:24162787|PMID:24233386|PMID:24365770|PMID:2526663|PMID:25272994|PMID:25637381|PMID:25741868|PMID:26251307|PMID:26466767|PMID:26985940|PMID:27652279|PMID:27660039|PMID:27667277|PMID:27748013|PMID:27838551|PMID:28374852|PMID:28492532|PMID:28607330|PMID:29225857|PMID:29321366|PMID:29748776|PMID:29883906|PMID:30349894|PMID:30669159|PMID:31064749|PMID:34355501|PMID:7545463|PMID:7579448|PMID:7579449|PMID:7803790|PMID:8113388|PMID:8298131|PMID:8765219|PMID:8781426|PMID:8943854|PMID:9241758|PMID:9536098|PMID:9651142|PMID:9657428 11691550 LOC100969680 protein S gene DOID:0111902 thrombophilia due to activated protein C resistance ISO RGD:1342781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11703344 11691550 LOC100969680 protein S gene DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency ISO RGD:1342781 D RGD:7240710 20180130 OMIM 11691550 LOC100969680 protein S gene DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency ISO RGD:1342781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive PMID:10063989|PMID:10456456|PMID:10613646|PMID:10613647|PMID:10669162|PMID:10706858|PMID:10790208|PMID:10811787|PMID:10887114|PMID:11127877|PMID:11776305|PMID:11858485|PMID:12351389|PMID:12960605|PMID:15147381|PMID:15175796|PMID:15238143|PMID:1547381|PMID:15712227|PMID:15712777|PMID:15978566|PMID:16100035|PMID:16199547|PMID:16363235|PMID:16461766|PMID:16953283|PMID:16961607|PMID:16961608|PMID:17157360|PMID:17576681|PMID:18322254|PMID:18435454|PMID:18841302|PMID:18954896|PMID:19826897|PMID:20181378|PMID:20421270|PMID:20484936|PMID:20811787|PMID:20880255|PMID:21172841|PMID:21285903|PMID:2143091|PMID:21486865|PMID:21764424|PMID:21764702|PMID:21811774|PMID:22166512|PMID:22261441|PMID:22273984|PMID:2231208|PMID:22627591|PMID:22627709|PMID:22951146|PMID:23813890|PMID:24014240|PMID:24033266|PMID:24055113|PMID:24119292|PMID:24162787|PMID:24233386|PMID:24365770|PMID:2521801|PMID:2526663|PMID:25272994|PMID:25637381|PMID:25640679|PMID:25741868|PMID:26046366|PMID:26251307|PMID:26466767|PMID:26985940|PMID:27652279|PMID:27660039|PMID:27667277|PMID:27748013|PMID:27838551|PMID:28374852|PMID:28492532|PMID:28607330|PMID:29225857|PMID:29321366|PMID:29748776|PMID:29883906|PMID:30349894|PMID:30543986|PMID:30669159|PMID:31064749|PMID:31422373|PMID:32964666|PMID:34355501|PMID:34533296|PMID:7545463|PMID:7579448|PMID:7579449|PMID:7803790|PMID:7974339|PMID:8298131|PMID:8616098|PMID:8639833|PMID:8765219|PMID:8781426|PMID:8841302|PMID:8943854|PMID:9031442|PMID:9031443|PMID:9241758|PMID:9536098|PMID:9651142 11691550 LOC100969680 protein S gene DOID:11394 adult respiratory distress syndrome ISO RGD:1342781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 11691550 LOC100969680 protein S gene DOID:1247 blood coagulation disease ISO RGD:1550610 D RGD:9068941 20200609 RGD PMID:19729839|REF_RGD_ID:11250417 11691550 LOC100969680 protein S gene DOID:178 vascular disease ISO RGD:1550610 D RGD:9068941 20200609 RGD PMID:19729839|REF_RGD_ID:11250417 11691550 LOC100969680 protein S gene DOID:2213 hemorrhagic disease ISO RGD:1342781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:20880255|PMID:25741868|PMID:28492532|PMID:31064749|PMID:8943854|PMID:9651142 11691550 LOC100969680 protein S gene DOID:2451 protein S deficiency ISO RGD:1342781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Protein S deficiency disease PMID:10447256|PMID:10706858|PMID:10790208|PMID:11127877|PMID:11858485|PMID:12351389|PMID:17576681|PMID:18322254|PMID:20880255|PMID:22166512|PMID:22261441|PMID:22951146|PMID:23813890|PMID:24014240|PMID:24055113|PMID:25272994|PMID:25637381|PMID:25741868|PMID:26466767|PMID:27652279|PMID:28492532|PMID:29321366|PMID:29748776|PMID:30543986|PMID:30669159|PMID:31064749|PMID:32581362|PMID:32964666|PMID:34355501|PMID:7579449|PMID:7803790|PMID:8943854|PMID:9241758|PMID:9536098 11691550 LOC100969680 protein S gene DOID:2451 protein S deficiency no_association ISO RGD:1342781 D RGD:9068941 20200609 RGD DNA:SNPs: : c.1016T>A, c.1138A>C (human) PMID:22261441|REF_RGD_ID:11250419 11691550 LOC100969680 protein S gene DOID:3526 cerebral infarction ISO RGD:1342781 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.R355C (1063C>T) (human) PMID:21172841|REF_RGD_ID:11250416 11691550 LOC100969680 protein S gene DOID:3576 sagittal sinus thrombosis ISO RGD:1342781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18382986 11691550 LOC100969680 protein S gene DOID:630 genetic disease ISO RGD:1342781 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10077735|PMID:20880255|PMID:25741868|PMID:28492532 11691550 LOC100969680 protein S gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1342781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11691550 LOC100969680 protein S gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:620971 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver, plasma PMID:16995903|REF_RGD_ID:2300011 11691550 LOC100969680 protein S gene DOID:9002165 Diabetic Nephropathies ISO RGD:1342781 D RGD:9068941 20200609 RGD protein:increased expression:kidney, glomerulus PMID:29511111|REF_RGD_ID:13515131 11691550 LOC100969680 protein S gene DOID:9002165 Diabetic Nephropathies ISO RGD:620971 D RGD:9068941 20200609 RGD associated with diabetes mellitus, experimental;mRNA, protein:increased expression:kidney, glomerulus PMID:29511111|REF_RGD_ID:13515131 11691550 LOC100969680 protein S gene DOID:9002165 Diabetic Nephropathies severity ISO RGD:1550610 D RGD:9068941 20200609 RGD associated with diabetes mellitus, experimental PMID:29511111|REF_RGD_ID:13515131 11691550 LOC100969680 protein S gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:1342781 D RGD:9068941 20200609 RGD associated with diabetes mellitus, experimental PMID:29511111|REF_RGD_ID:13515131 11691550 LOC100969680 protein S gene DOID:9003121 Thromboembolism ISO RGD:1342781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thromboembolism PMID:25741868|PMID:31064749 11691550 LOC100969680 protein S gene DOID:9003505 Venous Thromboembolism ISO RGD:1342781 D RGD:9068941 20200609 RGD PMID:11434940|PMID:26466767|REF_RGD_ID:11099984|REF_RGD_ID:11251678 11691550 LOC100969680 protein S gene DOID:9003871 Venous Thrombosis ISO RGD:1342781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:12351389|PMID:20880255|PMID:22261441|PMID:25741868|PMID:28492532|PMID:31064749|PMID:32964666|PMID:7803790 11691570 SLC5A9 solute carrier family 5 member 9 gene DOID:630 genetic disease ISO RGD:1322816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691591 EOGT EGF domain specific O-linked N-acetylglucosamine transferase gene DOID:0060227 Adams-Oliver syndrome ISO RGD:1602633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome PMID:23522784|PMID:25558065|PMID:25741868 11691591 EOGT EGF domain specific O-linked N-acetylglucosamine transferase gene DOID:630 genetic disease ISO RGD:1602633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11691591 EOGT EGF domain specific O-linked N-acetylglucosamine transferase gene DOID:9002329 Adams-Oliver Syndrome 4 ISO RGD:1602633 D RGD:7240710 20180130 OMIM 11691591 EOGT EGF domain specific O-linked N-acetylglucosamine transferase gene DOID:9002329 Adams-Oliver Syndrome 4 ISO RGD:1602633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 4 PMID:16199547|PMID:17576681|PMID:23522784|PMID:23860037|PMID:25488668|PMID:25558065|PMID:25741868|PMID:28492532|PMID:29924900|PMID:31368252|PMID:31654484|PMID:34782754|PMID:9536098 11691627 HOXA2 homeobox A2 gene DOID:0050682 Athabaskan brainstem dysgenesis syndrome ISO RGD:1353431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Navajo brainstem syndrome 11691627 HOXA2 homeobox A2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11691627 HOXA2 homeobox A2 gene DOID:630 genetic disease ISO RGD:1353431 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691627 HOXA2 homeobox A2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1353431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17786296 11691627 HOXA2 homeobox A2 gene DOID:9001502 Congenital Microtia ISO RGD:1353431 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:c.558C>A(p.Q186K)(human) PMID:18394579|REF_RGD_ID:11553827 11691627 HOXA2 homeobox A2 gene DOID:9003920 Microtia, Hearing Impairment, and Cleft Palate ISO RGD:1353431 D RGD:7240710 20180130 OMIM 11691627 HOXA2 homeobox A2 gene DOID:9003920 Microtia, Hearing Impairment, and Cleft Palate ISO RGD:1353431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microtia with or without hearing impairment | ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate PMID:18394579|PMID:23775976|PMID:25691070|PMID:25741868 11691634 NOX5 NADPH oxidase 5 gene DOID:2717 Bloom syndrome ISO RGD:1353478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11691634 NOX5 NADPH oxidase 5 gene DOID:630 genetic disease ISO RGD:1353478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691634 NOX5 NADPH oxidase 5 gene DOID:9256 colorectal cancer ISO RGD:1353478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11691661 ACTR8 actin related protein 8 gene DOID:630 genetic disease ISO RGD:1323563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691692 ZNF683 zinc finger protein 683 gene DOID:0080600 COVID-19 ISO RGD:1601926 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD8+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 11691692 ZNF683 zinc finger protein 683 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1601926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 11691692 ZNF683 zinc finger protein 683 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1601926 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 11691692 ZNF683 zinc finger protein 683 gene DOID:630 genetic disease ISO RGD:1601926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691692 ZNF683 zinc finger protein 683 gene DOID:9001341 Chloracne ISO RGD:1601926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 11691718 MROH2A maestro heat like repeat family member 2A gene DOID:0060476 Perlman syndrome ISO RGD:2302189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11691718 MROH2A maestro heat like repeat family member 2A gene DOID:0110991 Joubert syndrome 22 ISO RGD:2302189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11691751 TMEM127 transmembrane protein 127 gene DOID:0050771 pheochromocytoma ISO RGD:1601991 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28492532|PMID:28855235|PMID:29625052|PMID:30113886|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098 11691751 TMEM127 transmembrane protein 127 gene DOID:0050771 pheochromocytoma susceptibility ISO RGD:1601991 D RGD:7240710 20230505 OMIM 11691751 TMEM127 transmembrane protein 127 gene DOID:0050773 paraganglioma ISO RGD:1601991 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paragangliomata PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29909963|PMID:30877234|PMID:31666924|PMID:32877928|PMID:33051659|PMID:9536098 11691751 TMEM127 transmembrane protein 127 gene DOID:0050773 paraganglioma ISO RGD:1601991 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:9536098 11691751 TMEM127 transmembrane protein 127 gene DOID:0050773 paraganglioma ISO RGD:1601991 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098 11691751 TMEM127 transmembrane protein 127 gene DOID:0050773 paraganglioma ISO RGD:1601991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098 11691751 TMEM127 transmembrane protein 127 gene DOID:0050773 paraganglioma ISO RGD:1601991 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098 11691751 TMEM127 transmembrane protein 127 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1601991 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acute promyelocytic leukemia PMID:25741868|PMID:28492532|PMID:32575117 11691751 TMEM127 transmembrane protein 127 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1601991 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Smith-Magenis syndrome PMID:16266984|PMID:17576681|PMID:20154675|PMID:25389632|PMID:25741868|PMID:28492532|PMID:9536098 11691751 TMEM127 transmembrane protein 127 gene DOID:1059 intellectual disability ISO RGD:1601991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11691751 TMEM127 transmembrane protein 127 gene DOID:1752 ocular melanoma ISO RGD:1601991 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intraocular melanoma PMID:25741868|PMID:28492532 11691751 TMEM127 transmembrane protein 127 gene DOID:2394 ovarian cancer ISO RGD:1601991 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 11691751 TMEM127 transmembrane protein 127 gene DOID:5419 schizophrenia ISO RGD:1601991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11691751 TMEM127 transmembrane protein 127 gene DOID:6039 uveal melanoma ISO RGD:1601991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uveal melanoma PMID:25741868|PMID:28492532 11691751 TMEM127 transmembrane protein 127 gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:1601991 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28492532|PMID:28855235|PMID:29625052|PMID:30113886|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:9536098 11691751 TMEM127 transmembrane protein 127 gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:1601991 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098 11691751 TMEM127 transmembrane protein 127 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601991 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30877234|PMID:31666924|PMID:32575117|PMID:33051659 11691751 TMEM127 transmembrane protein 127 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601991 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338 11691751 TMEM127 transmembrane protein 127 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098 11691751 TMEM127 transmembrane protein 127 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601991 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28492532|PMID:28567294|PMID:28646318|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098 11691751 TMEM127 transmembrane protein 127 gene DOID:9119 acute myeloid leukemia ISO RGD:1601991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:20923864|PMID:25741868|PMID:28492532 11691763 CCDC59 coiled-coil domain containing 59 gene DOID:630 genetic disease ISO RGD:1606017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691771 SLCO1B1 solute carrier organic anion transporter family member 1B1 gene DOID:0080000 muscular disease ISO RGD:1344263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15681900|PMID:18650507|PMID:19238167|PMID:19833260|PMID:21243006 11691771 SLCO1B1 solute carrier organic anion transporter family member 1B1 gene DOID:2739 Gilbert syndrome ISO RGD:1344263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gilbert syndrome | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE PMID:16198652|PMID:17108811|PMID:17473846|PMID:17568401|PMID:18650507|PMID:19374892|PMID:19833260|PMID:20040338|PMID:21178985|PMID:21243006|PMID:21928084|PMID:22992668|PMID:23361102|PMID:23876492|PMID:23930675|PMID:23942138|PMID:24263182|PMID:24598718|PMID:25446771|PMID:25630984|PMID:25673568|PMID:25741868|PMID:26086347|PMID:26164721|PMID:26367500|PMID:26373210|PMID:26774055|PMID:26857559|PMID:27557342|PMID:27595674|PMID:27839692|PMID:28350522|PMID:28435225|PMID:28812116|PMID:28940218|PMID:29039339|PMID:29242847|PMID:29442027|PMID:29469964|PMID:29785580|PMID:29950617|PMID:30250148|PMID:30528195|PMID:30595243|PMID:31220337|PMID:31242253|PMID:31594719|PMID:31857620|PMID:31967516|PMID:31981411|PMID:32128760|PMID:32361904|PMID:32453264 11691771 SLCO1B1 solute carrier organic anion transporter family member 1B1 gene DOID:3571 liver cancer disease_progression ISO RGD:1344263 D RGD:9068941 20220623 RGD mRNA:decreased expression:liver (human) PMID:21625523|REF_RGD_ID:152995425 11691771 SLCO1B1 solute carrier organic anion transporter family member 1B1 gene DOID:630 genetic disease ISO RGD:1344263 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11691771 SLCO1B1 solute carrier organic anion transporter family member 1B1 gene DOID:9005094 Hereditary Hyperbilirubinemia ISO RGD:1344263 D RGD:7240710 20180131 OMIM 11691771 SLCO1B1 solute carrier organic anion transporter family member 1B1 gene DOID:9005094 Hereditary Hyperbilirubinemia ISO RGD:1344263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperbilirubinemia, Rotor type | ClinVar Annotator: match by term: Rotor syndrome PMID:11477075|PMID:12811365|PMID:15970799|PMID:16198652|PMID:16513443|PMID:17108811|PMID:17415554|PMID:17473846|PMID:17568401|PMID:17883959|PMID:17989996|PMID:18154446|PMID:18159134|PMID:18185926|PMID:18650507|PMID:19122343|PMID:19374892|PMID:19833260|PMID:20040338|PMID:20660695|PMID:20821001|PMID:20955959|PMID:21178985|PMID:21243006|PMID:21928084|PMID:22013971|PMID:22147369|PMID:22185815|PMID:22232210|PMID:22992668|PMID:23047721|PMID:23361102|PMID:23652407|PMID:23876492|PMID:23930675|PMID:23942138|PMID:24263182|PMID:24598718|PMID:24918167|PMID:25446771|PMID:25546334|PMID:25630984|PMID:25673568|PMID:25741868|PMID:26086347|PMID:26164721|PMID:26367500|PMID:26373210|PMID:26774055|PMID:26857559|PMID:26929901|PMID:27557342|PMID:27595674|PMID:27839692|PMID:28350522|PMID:28435225|PMID:28492532|PMID:28812116|PMID:28940218|PMID:29039339|PMID:29242847|PMID:29442027|PMID:29469964|PMID:29785580|PMID:29950617|PMID:30250148|PMID:30366773|PMID:30528195|PMID:30595243|PMID:31220337|PMID:31242253|PMID:31594719|PMID:31857620|PMID:31967516|PMID:31981411|PMID:32082363|PMID:32128760|PMID:32361904|PMID:32453264 11691771 SLCO1B1 solute carrier organic anion transporter family member 1B1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1344263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21387541 11691771 SLCO1B1 solute carrier organic anion transporter family member 1B1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344263 D RGD:9068941 20200910 CTD CTD Direct Evidence: marker/mechanism PMID:32259555 11691771 SLCO1B1 solute carrier organic anion transporter family member 1B1 gene DOID:9008939 Breast Neoplasms ISO RGD:1344263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21457551 11691790 ST8SIA2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 gene DOID:12849 autistic disorder ISO RGD:1351358 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20663923 11691790 ST8SIA2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 gene DOID:630 genetic disease ISO RGD:1351358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691802 NCAPG2 non-SMC condensin II complex subunit G2 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1603208 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:23370340|PMID:24095820|PMID:28492532|PMID:29992659|PMID:31334757 11691802 NCAPG2 non-SMC condensin II complex subunit G2 gene DOID:12849 autistic disorder ISO RGD:1603208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11691802 NCAPG2 non-SMC condensin II complex subunit G2 gene DOID:14330 Parkinson's disease ISO RGD:1603208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 11691802 NCAPG2 non-SMC condensin II complex subunit G2 gene DOID:630 genetic disease ISO RGD:1603208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691802 NCAPG2 non-SMC condensin II complex subunit G2 gene DOID:9000330 Kahn-Kahn-Katsanis Syndrome ISO RGD:1603208 D RGD:7240710 20190626 OMIM 11691802 NCAPG2 non-SMC condensin II complex subunit G2 gene DOID:9000330 Kahn-Kahn-Katsanis Syndrome ISO RGD:1603208 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: 3K SYNDROME PMID:25741868|PMID:28492532|PMID:30609410 11691840 TARS2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:0111465 combined oxidative phosphorylation deficiency 21 ISO RGD:1344526 D RGD:7240710 20180130 OMIM 11691840 TARS2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:0111465 combined oxidative phosphorylation deficiency 21 ISO RGD:1344526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 21 PMID:24827421|PMID:25741868|PMID:28492532|PMID:33153448 11691840 TARS2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:0111940 immunodeficiency 42 ISO RGD:1344526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11691840 TARS2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11691840 TARS2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11691840 TARS2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:10967 spastic hemiplegia ISO RGD:1344526 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spastic hemiplegia PMID:25741868 11691840 TARS2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:1540 parathyroid carcinoma ISO RGD:1344526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11691840 TARS2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:5812 MHC class II deficiency ISO RGD:1344526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11691840 TARS2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1344526 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11691840 TARS2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:9001276 Failure to Thrive ISO RGD:1344526 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868 11691840 TARS2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11691840 TARS2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11691867 PHYHIP phytanoyl-CoA 2-hydroxylase interacting protein gene DOID:630 genetic disease ISO RGD:1314035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691867 PHYHIP phytanoyl-CoA 2-hydroxylase interacting protein gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1314035 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 11691879 THAP12 THAP domain containing 12 gene DOID:1059 intellectual disability ISO RGD:1320154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11691879 THAP12 THAP domain containing 12 gene DOID:630 genetic disease ISO RGD:1320154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691894 WASF2 WASP family member 2 gene DOID:630 genetic disease ISO RGD:1316411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691907 TPX2 TPX2 microtubule nucleation factor gene DOID:0080600 COVID-19 ISO RGD:1323589 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11691907 TPX2 TPX2 microtubule nucleation factor gene DOID:630 genetic disease ISO RGD:1323589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11691907 TPX2 TPX2 microtubule nucleation factor gene DOID:684 hepatocellular carcinoma ISO RGD:1323589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11691944 KATNAL2 katanin catalytic subunit A1 like 2 gene DOID:0060356 Vici syndrome ISO RGD:1350599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 11691944 KATNAL2 katanin catalytic subunit A1 like 2 gene DOID:10283 prostate cancer ISO RGD:1350599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11691944 KATNAL2 katanin catalytic subunit A1 like 2 gene DOID:1059 intellectual disability ISO RGD:1350599 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11691944 KATNAL2 katanin catalytic subunit A1 like 2 gene DOID:12849 autistic disorder ISO RGD:1350599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 11691944 KATNAL2 katanin catalytic subunit A1 like 2 gene DOID:5419 schizophrenia ISO RGD:1350599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11691944 KATNAL2 katanin catalytic subunit A1 like 2 gene DOID:630 genetic disease ISO RGD:1350599 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25621899|PMID:26506440|PMID:28492532 11691944 KATNAL2 katanin catalytic subunit A1 like 2 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1350599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 11691944 KATNAL2 katanin catalytic subunit A1 like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 11691976 ELP2 elongator acetyltransferase complex subunit 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1315023 D RGD:9068941 20220825 MouseDO 11691976 ELP2 elongator acetyltransferase complex subunit 2 gene DOID:0081212 autosomal recessive intellectual developmental disorder 48 ISO RGD:1315022 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome PMID:25741868 11691976 ELP2 elongator acetyltransferase complex subunit 2 gene DOID:0081220 autosomal recessive intellectual developmental disorder 58 ISO RGD:1315022 D RGD:7240710 20190315 OMIM 11691976 ELP2 elongator acetyltransferase complex subunit 2 gene DOID:0081220 autosomal recessive intellectual developmental disorder 58 ISO RGD:1315022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ELP2-Related Disorders | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 58 PMID:21937992|PMID:25356970|PMID:25741868|PMID:25847581|PMID:28492532|PMID:28726809|PMID:32573669|PMID:33393008|PMID:33510603|PMID:33976153|PMID:34653680 11691976 ELP2 elongator acetyltransferase complex subunit 2 gene DOID:1059 intellectual disability ISO RGD:1315022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound PMID:25741868 11691976 ELP2 elongator acetyltransferase complex subunit 2 gene DOID:1059 intellectual disability ISO RGD:1315022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound PMID:21937992|PMID:25356970|PMID:25741868|PMID:25847581|PMID:28492532|PMID:28726809|PMID:32573669|PMID:33393008|PMID:33510603|PMID:33976153|PMID:34653680 11691976 ELP2 elongator acetyltransferase complex subunit 2 gene DOID:630 genetic disease ISO RGD:1315022 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21937992|PMID:25741868|PMID:25847581|PMID:33976153 11692009 EQTN equatorin gene DOID:630 genetic disease ISO RGD:1342522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11692021 SERTAD4 SERTA domain containing 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1351903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11692021 SERTAD4 SERTA domain containing 4 gene DOID:630 genetic disease ISO RGD:1351903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11692021 SERTAD4 SERTA domain containing 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11692029 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:0050572 cone-rod dystrophy ISO RGD:1605701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:18313024|PMID:20603202|PMID:24355708|PMID:25480986|PMID:25741868|PMID:28492532|PMID:31135245|PMID:31712030|PMID:3963113|PMID:8053762 11692029 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:0050952 spastic ataxia ISO RGD:1605701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532|PMID:32579787 11692029 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:0080490 mucolipidosis type IV ISO RGD:1605701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:25741868|PMID:26467025|PMID:28492532 11692029 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1605701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25033069|PMID:25359264|PMID:25741868|PMID:28492532 11692029 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:0110790 hereditary spastic paraplegia 39 ISO RGD:1605701 D RGD:7240710 20180130 OMIM 11692029 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:0110790 hereditary spastic paraplegia 39 ISO RGD:1605701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 | ClinVar Annotator: match by term: Spastic paraplegia 39 PMID:16199547|PMID:17576681|PMID:18313024|PMID:20603202|PMID:23733235|PMID:24355708|PMID:25033069|PMID:25133958|PMID:25267340|PMID:25299038|PMID:25359264|PMID:25480986|PMID:25574898|PMID:25741868|PMID:26467025|PMID:26995604|PMID:27866050|PMID:28492532|PMID:28559085|PMID:29221171|PMID:29248984|PMID:30097146|PMID:30555943|PMID:30564185|PMID:31048186|PMID:31135245|PMID:31712030|PMID:31780887|PMID:32579787|PMID:32586184|PMID:32623594|PMID:32758583|PMID:32870266|PMID:33141049|PMID:33210227|PMID:34103343|PMID:3963113|PMID:8053762|PMID:9536098 11692029 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1605701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 11692029 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:0111265 Boucher-Neuhauser syndrome ISO RGD:1605701 D RGD:7240710 20180130 OMIM 11692029 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:0111265 Boucher-Neuhauser syndrome ISO RGD:1605701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome | ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism PMID:18313024|PMID:20603202|PMID:23733235|PMID:24355708|PMID:25033069|PMID:25267340|PMID:25299038|PMID:25359264|PMID:25480986|PMID:25574898|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29248984|PMID:30555943|PMID:31135245|PMID:31780887|PMID:33141049|PMID:3963113|PMID:8053762|PMID:9321767 11692029 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:0111271 Oliver-McFarlane syndrome ISO RGD:1605701 D RGD:7240710 20180130 OMIM 11692029 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:0111271 Oliver-McFarlane syndrome ISO RGD:1605701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome PMID:18313024|PMID:20603202|PMID:23733235|PMID:24355708|PMID:25299038|PMID:25480986|PMID:25574898|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31135245|PMID:31780887|PMID:3963113|PMID:8053762 11692029 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:1389 polyneuropathy ISO RGD:1605701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22819951 11692029 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:13938 amenorrhea ISO RGD:1605701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:28492532|PMID:32870266 11692029 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:1930 Laurence-Moon syndrome ISO RGD:1605701 D RGD:7240710 20180130 OMIM 11692029 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:1930 Laurence-Moon syndrome ISO RGD:1605701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Laurence-Moon syndrome PMID:18313024|PMID:20603202|PMID:23733235|PMID:24355708|PMID:25299038|PMID:25480986|PMID:25574898|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31135245|PMID:3963113|PMID:8053762 11692029 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:231 motor neuron disease ISO RGD:1605701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18313024|PMID:20603202 11692029 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1605701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:18313024|PMID:20603202|PMID:23733235|PMID:24355708|PMID:25033069|PMID:25133958|PMID:25299038|PMID:25359264|PMID:25480986|PMID:25574898|PMID:25741868|PMID:26467025|PMID:26995604|PMID:27866050|PMID:28492532|PMID:29221171|PMID:29248984|PMID:30555943|PMID:30564185|PMID:31048186|PMID:31135245|PMID:33141049|PMID:3963113|PMID:8053762 11692029 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:2710 sick building syndrome ISO RGD:1605701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23418070 11692029 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1605701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532|PMID:32579787 11692029 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:3614 Kallmann syndrome ISO RGD:1605701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadism with anosmia PMID:25741868 11692029 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:574 peripheral nervous system disease ISO RGD:1605701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 11692029 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:630 genetic disease ISO RGD:1605701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18313024|PMID:20603202|PMID:23733235|PMID:24355708|PMID:25133958|PMID:25299038|PMID:25480986|PMID:25574898|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31135245|PMID:3963113|PMID:8053762|PMID:9536098 11692029 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:8501 fundus dystrophy ISO RGD:1605701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868 11692029 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:863 nervous system disease ISO RGD:1605701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8211998 11692029 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:870 neuropathy ISO RGD:1605701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 11692029 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:9001722 Dysarthria ISO RGD:1605701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dysarthria PMID:25033069|PMID:25359264|PMID:25741868|PMID:28492532 11692029 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1605701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:28492532 11692029 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:9007284 Precocious Puberty ISO RGD:1605701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral precocious puberty 11692069 ZNF318 zinc finger protein 318 gene DOID:0050444 infantile Refsum disease ISO RGD:1318587 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11692069 ZNF318 zinc finger protein 318 gene DOID:630 genetic disease ISO RGD:1318587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11692069 ZNF318 zinc finger protein 318 gene DOID:905 Zellweger syndrome ISO RGD:1318587 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11692083 CYLD CYLD lysine 63 deubiquitinase gene DOID:0050693 Brooke-Spiegler syndrome ISO RGD:1319183 D RGD:7240710 20180130 OMIM 11692083 CYLD CYLD lysine 63 deubiquitinase gene DOID:0050693 Brooke-Spiegler syndrome ISO RGD:1319183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brooke-Spiegler syndrome | ClinVar Annotator: match by term: Familial cylindromatosis | ClinVar Annotator: match by term: Familial multiple trichoepitheliomata | ClinVar Annotator: match by term: Trichoepithelioma, multiple familial, 1 PMID:10835629|PMID:12190880|PMID:12950348|PMID:14632188|PMID:15854031|PMID:16307661|PMID:16922728|PMID:19807742|PMID:24728327|PMID:25741868|PMID:28492532 11692083 CYLD CYLD lysine 63 deubiquitinase gene DOID:0111122 nephronophthisis 14 ISO RGD:1319183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 11692083 CYLD CYLD lysine 63 deubiquitinase gene DOID:11573 listeriosis ISO RGD:1319183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23825949 11692083 CYLD CYLD lysine 63 deubiquitinase gene DOID:2394 ovarian cancer ISO RGD:1319183 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 11692083 CYLD CYLD lysine 63 deubiquitinase gene DOID:3275 thymoma ISO RGD:1319183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24974848 11692083 CYLD CYLD lysine 63 deubiquitinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1319183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043644 11692083 CYLD CYLD lysine 63 deubiquitinase gene DOID:630 genetic disease ISO RGD:1319183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11692083 CYLD CYLD lysine 63 deubiquitinase gene DOID:684 hepatocellular carcinoma ISO RGD:1319183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21109933 11692083 CYLD CYLD lysine 63 deubiquitinase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1319183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29477382 11692083 CYLD CYLD lysine 63 deubiquitinase gene DOID:9004464 Skin Neoplasms susceptibility ISO RGD:1319183 D RGD:9068941 20200609 RGD familial cylindromatosis, OMIM:132700;DNA:nonsense mutations PMID:10835629|REF_RGD_ID:1601033 11692083 CYLD CYLD lysine 63 deubiquitinase gene DOID:9007226 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-8 ISO RGD:1319183 D RGD:7240710 20210113 OMIM 11692083 CYLD CYLD lysine 63 deubiquitinase gene DOID:9007226 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-8 ISO RGD:1319183 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 PMID:23338750|PMID:25741868|PMID:32185393 11692083 CYLD CYLD lysine 63 deubiquitinase gene DOID:9008454 Trichoepithelioma, Multiple Familial, 2 ISO RGD:1319183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichoepithelioma, multiple familial, 2 11692083 CYLD CYLD lysine 63 deubiquitinase gene DOID:9538 multiple myeloma ISO RGD:1319183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11692118 JADE1 jade family PHD finger 1 gene DOID:630 genetic disease ISO RGD:1315809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11692163 SFXN1 sideroflexin 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1318276 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11692163 SFXN1 sideroflexin 1 gene DOID:630 genetic disease ISO RGD:1318276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11692163 SFXN1 sideroflexin 1 gene DOID:9006205 Animal Disease Models ISO RGD:1318276 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11692163 SFXN1 sideroflexin 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318276 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 11692181 ZNF555 zinc finger protein 555 gene DOID:630 genetic disease ISO RGD:1350400 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11692181 ZNF555 zinc finger protein 555 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350400 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:732480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:25741868|PMID:28492532 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:0110163 Charcot-Marie-Tooth disease axonal type 2F ISO RGD:732480 D RGD:7240710 20180130 OMIM 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:0110163 Charcot-Marie-Tooth disease axonal type 2F ISO RGD:732480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2F | ClinVar Annotator: match by term: HSPB1-Related Disorder PMID:11528513|PMID:12372593|PMID:15122254|PMID:16087758|PMID:16155736|PMID:16215937|PMID:17576681|PMID:17623484|PMID:17881652|PMID:18325928|PMID:18344398|PMID:18832141|PMID:18952241|PMID:20178975|PMID:20660910|PMID:20870250|PMID:21611841|PMID:21785432|PMID:21892769|PMID:21971574|PMID:21983720|PMID:22031878|PMID:22057845|PMID:22176143|PMID:22206013|PMID:22484489|PMID:22521462|PMID:22734906|PMID:23379525|PMID:23643870|PMID:23728742|PMID:23948568|PMID:23963299|PMID:24607769|PMID:24719117|PMID:25025039|PMID:25088881|PMID:25220807|PMID:25429913|PMID:25547330|PMID:25741868|PMID:25965061|PMID:25999205|PMID:26077850|PMID:26141737|PMID:26467025|PMID:26675522|PMID:26768280|PMID:26986878|PMID:26989944|PMID:27492805|PMID:27816334|PMID:27830184|PMID:27862672|PMID:28000086|PMID:28077174|PMID:28144995|PMID:28379183|PMID:28492532|PMID:28547731|PMID:28595321|PMID:28702508|PMID:28717666|PMID:28797631|PMID:28828227|PMID:29031079|PMID:29048431|PMID:29330367|PMID:29381233|PMID:29547183|PMID:29858556|PMID:30669930|PMID:30758704|PMID:30842409|PMID:31573509|PMID:31919945|PMID:32298515|PMID:32301006|PMID:32323160|PMID:32334137|PMID:32376792|PMID:32397312|PMID:32528171|PMID:33509756|PMID:9536098 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:732480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:0111200 distal hereditary motor neuronopathy type 1 ISO RGD:732480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:0111207 distal hereditary motor neuronopathy type 2B ISO RGD:732480 D RGD:7240710 20180130 OMIM 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:0111207 distal hereditary motor neuronopathy type 2B ISO RGD:732480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2B PMID:11528513|PMID:15122254|PMID:16087758|PMID:16155736|PMID:16215937|PMID:16368711|PMID:17576681|PMID:17623484|PMID:17881652|PMID:18325928|PMID:18832141|PMID:20178975|PMID:20660910|PMID:21149811|PMID:21971574|PMID:22031878|PMID:22057845|PMID:22176143|PMID:22484489|PMID:22734906|PMID:23379525|PMID:23643870|PMID:23728742|PMID:23963299|PMID:24607769|PMID:24719117|PMID:25025039|PMID:25220807|PMID:25741868|PMID:25965061|PMID:25999205|PMID:26077850|PMID:26141737|PMID:26467025|PMID:26675522|PMID:26986878|PMID:26989944|PMID:27816334|PMID:27830184|PMID:28144995|PMID:28492532|PMID:28547731|PMID:28595321|PMID:28702508|PMID:29048431|PMID:29330367|PMID:29381233|PMID:29547183|PMID:30669930|PMID:30758704|PMID:31573509|PMID:32301006|PMID:32323160|PMID:32334137|PMID:32376792|PMID:33509756|PMID:9536098 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:11528513|PMID:12372593|PMID:15122254|PMID:16215937|PMID:17576681|PMID:17623484|PMID:17881652|PMID:18325928|PMID:18344398|PMID:18832141|PMID:18952241|PMID:19435728|PMID:20178975|PMID:20660910|PMID:20870250|PMID:21149811|PMID:21611841|PMID:21892769|PMID:21983720|PMID:22031878|PMID:22176143|PMID:22206013|PMID:22521462|PMID:22734906|PMID:23643870|PMID:23728742|PMID:23948568|PMID:23963299|PMID:24607769|PMID:25025039|PMID:25088881|PMID:25220807|PMID:25429913|PMID:25547330|PMID:25614874|PMID:25741868|PMID:25965061|PMID:26141737|PMID:26467025|PMID:26675522|PMID:26986878|PMID:26989944|PMID:27816334|PMID:27830184|PMID:27862672|PMID:28000086|PMID:28144995|PMID:28166811|PMID:28379183|PMID:28492532|PMID:28595321|PMID:28702508|PMID:28797631|PMID:29381233|PMID:29547183|PMID:9536098 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732480 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:11528513|PMID:12372593|PMID:15122254|PMID:17576681|PMID:17623484|PMID:17881652|PMID:18325928|PMID:18344398|PMID:18832141|PMID:18952241|PMID:19435728|PMID:20178975|PMID:20660910|PMID:20870250|PMID:21149811|PMID:21611841|PMID:21892769|PMID:22031878|PMID:22176143|PMID:22206013|PMID:22521462|PMID:22734906|PMID:23643870|PMID:23948568|PMID:23963299|PMID:24607769|PMID:25025039|PMID:25088881|PMID:25429913|PMID:25547330|PMID:25614874|PMID:25741868|PMID:25965061|PMID:26141737|PMID:26467025|PMID:26986878|PMID:26989944|PMID:27816334|PMID:27830184|PMID:28000086|PMID:28144995|PMID:28379183|PMID:28492532|PMID:28595321|PMID:28702508|PMID:28797631|PMID:29381233|PMID:29547183|PMID:32334137|PMID:32376792|PMID:32528171|PMID:9536098 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732480 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11528513|PMID:12372593|PMID:15122254|PMID:16215937|PMID:17576681|PMID:17623484|PMID:17881652|PMID:18325928|PMID:18344398|PMID:18832141|PMID:18952241|PMID:19435728|PMID:20178975|PMID:20660910|PMID:20870250|PMID:21149811|PMID:21611841|PMID:21892769|PMID:21971574|PMID:21983720|PMID:22031878|PMID:22176143|PMID:22206013|PMID:22484489|PMID:22521462|PMID:22734906|PMID:23379525|PMID:23643870|PMID:23728742|PMID:23948568|PMID:23963299|PMID:24607769|PMID:24719117|PMID:25025039|PMID:25088881|PMID:25429913|PMID:25547330|PMID:25614874|PMID:25741868|PMID:25965061|PMID:25999205|PMID:26077850|PMID:26141737|PMID:26467025|PMID:26675522|PMID:26986878|PMID:26989944|PMID:27816334|PMID:27830184|PMID:27862672|PMID:28000086|PMID:28077174|PMID:28144995|PMID:28379183|PMID:28492532|PMID:28595321|PMID:28702508|PMID:28797631|PMID:29381233|PMID:29547183|PMID:30758704|PMID:31573509|PMID:32301006|PMID:32323160|PMID:32334137|PMID:32376792|PMID:32528171|PMID:9536098 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:10652 Alzheimer's disease ISO RGD:61306 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brainstem, astrocyte: PMID:25772164|REF_RGD_ID:10402580 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:1115 sarcoma disease_progression ISO RGD:732480 D RGD:9068941 20200609 RGD PMID:21833720|REF_RGD_ID:10402768 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9527842 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:732480 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus, podocyte: PMID:21931298|REF_RGD_ID:10402764 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:1749 squamous cell carcinoma ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:732480 D RGD:9068941 20200609 RGD PMID:21833720|REF_RGD_ID:10402768 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:1824 status epilepticus ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20971094 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:224 transient cerebral ischemia ISO RGD:61306 D RGD:9068941 20200609 RGD protein:increased expression:brain,astrocyte: PMID:10559386|REF_RGD_ID:10402577 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:2773 contact dermatitis ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:3910 lung adenocarcinoma ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:4450 renal cell carcinoma ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:6000 congestive heart failure ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17481944 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:630 genetic disease ISO RGD:732480 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12372593|PMID:15122254|PMID:16087758|PMID:16215937|PMID:17576681|PMID:17623484|PMID:18344398|PMID:18832141|PMID:20178975|PMID:20660910|PMID:21611841|PMID:21892769|PMID:22031878|PMID:22176143|PMID:22521462|PMID:23643870|PMID:23728742|PMID:23948568|PMID:24607769|PMID:25025039|PMID:25429913|PMID:25547330|PMID:25741868|PMID:26141737|PMID:26467025|PMID:26675522|PMID:26986878|PMID:26989944|PMID:27816334|PMID:27830184|PMID:28000086|PMID:28144995|PMID:28379183|PMID:28492532|PMID:28595321|PMID:28702508|PMID:28797631|PMID:29048431|PMID:29330367|PMID:29381233|PMID:29547183|PMID:30669930|PMID:32334137|PMID:32376792|PMID:32528171|PMID:33509756|PMID:9536098 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:7148 rheumatoid arthritis ISO RGD:732480 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21417552|REF_RGD_ID:10402843 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:61306 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal cord: PMID:12098653|REF_RGD_ID:10402749 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:61306 D RGD:9068941 20200903 RGD PMID:30287503|REF_RGD_ID:38549580 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:9000307 Presbycusis ISO RGD:732481 D RGD:9068941 20200609 RGD PMID:24587312|REF_RGD_ID:10402574 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:9000972 Fever ISO RGD:61306 D RGD:9068941 20200609 RGD protein:increased expression:glial cell PMID:12834255|REF_RGD_ID:1304397 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:9000998 Brain Injuries ISO RGD:61306 D RGD:9068941 20200609 RGD PMID:11746764|REF_RGD_ID:6480530 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:61306 D RGD:9068941 20200609 RGD PMID:21310899|REF_RGD_ID:10402767 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:61306 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:glomerulus: PMID:21931298|REF_RGD_ID:10402764 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:732480 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus, podocyte: PMID:21931298|REF_RGD_ID:10402764 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:9002221 Hyperplasia ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864298 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:9003104 Intracranial Hemorrhages ISO RGD:61306 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:15472083|REF_RGD_ID:10402769 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:9004009 Reperfusion Injury ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19193722 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:9005873 Tongue Neoplasms ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19840781 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:732480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:9008691 Liver Injury ISO RGD:61306 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver,hepatocyte,macrophage: PMID:22417648|REF_RGD_ID:10402770 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:9119 acute myeloid leukemia ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11692191 HSPB1 heat shock protein family B (small) member 1 gene DOID:9538 multiple myeloma ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12855565 11692198 WWP1 WW domain containing E3 ubiquitin protein ligase 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1323344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 11692198 WWP1 WW domain containing E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1323344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11692234 ZDHHC1 zinc finger DHHC-type containing 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1348828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11692234 ZDHHC1 zinc finger DHHC-type containing 1 gene DOID:630 genetic disease ISO RGD:1348828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11692253 CLDN6 claudin 6 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1318839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11692253 CLDN6 claudin 6 gene DOID:1826 epilepsy ISO RGD:1318839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11692253 CLDN6 claudin 6 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1318839 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11692253 CLDN6 claudin 6 gene DOID:630 genetic disease ISO RGD:1318839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11692259 NEFL neurofilament light chain gene DOID:0050328 congenital hypothyroidism ISO RGD:621458 D RGD:9068941 20200609 RGD protein:decreased expression, increased phosphorylation PMID:18845185|REF_RGD_ID:9693732 11692259 NEFL neurofilament light chain gene DOID:0050433 fatal familial insomnia ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:30048013|REF_RGD_ID:127285394 11692259 NEFL neurofilament light chain gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1344238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:12566280|PMID:22765307|PMID:25741868|PMID:26467025|PMID:28492532 11692259 NEFL neurofilament light chain gene DOID:0080294 Charcot-Marie-Tooth disease dominant intermediate G ISO RGD:1344238 D RGD:7240710 20190315 OMIM 11692259 NEFL neurofilament light chain gene DOID:0080294 Charcot-Marie-Tooth disease dominant intermediate G ISO RGD:1344238 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate G PMID:12477167|PMID:12566280|PMID:14733962|PMID:17052987|PMID:19158810|PMID:20301384|PMID:21493625|PMID:21840889|PMID:22206013|PMID:22288874|PMID:24887401|PMID:25448007|PMID:25552649|PMID:25741868|PMID:25741869|PMID:25877835|PMID:26109717|PMID:26467025|PMID:26645395|PMID:27206872|PMID:27549087|PMID:28492532|PMID:32376792 11692259 NEFL neurofilament light chain gene DOID:0080600 COVID-19 ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:serum (human) PMID:33743046|REF_RGD_ID:127284892 11692259 NEFL neurofilament light chain gene DOID:0080600 COVID-19 severity ISO RGD:1344238 D RGD:9068941 20210625 RGD associated with central neurological symptoms;protein:increased expression:CSF (human) PMID:33369818|REF_RGD_ID:127284893 11692259 NEFL neurofilament light chain gene DOID:0080600 COVID-19 severity ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:plasma (human) PMID:32546655|REF_RGD_ID:127284882 11692259 NEFL neurofilament light chain gene DOID:0080600 COVID-19 severity ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:serum (human) PMID:33377539|REF_RGD_ID:127285022 11692259 NEFL neurofilament light chain gene DOID:0080832 mild cognitive impairment ISO RGD:1344238 D RGD:9068941 20210618 RGD protein:increased expression:CSF (human) PMID:29391125|REF_RGD_ID:127285384 11692259 NEFL neurofilament light chain gene DOID:0110149 Charcot-Marie-Tooth disease type 1F ISO RGD:1344238 D RGD:7240710 20180130 OMIM 11692259 NEFL neurofilament light chain gene DOID:0110149 Charcot-Marie-Tooth disease type 1F ISO RGD:1344238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1f PMID:12477167|PMID:12481988|PMID:12566280|PMID:15111691|PMID:16452125|PMID:16930284|PMID:17052987|PMID:19123978|PMID:19158810|PMID:19286384|PMID:20039262|PMID:20301384|PMID:20421365|PMID:21168446|PMID:21493625|PMID:21840889|PMID:2288874|PMID:23230147|PMID:24078732|PMID:25448007|PMID:25552649|PMID:25741868|PMID:25741869|PMID:26467025|PMID:26645395|PMID:27206872|PMID:28492532|PMID:28501821|PMID:31574566|PMID:31673878|PMID:32376792 11692259 NEFL neurofilament light chain gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1344238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, Type 1C PMID:12481988|PMID:15111691|PMID:16452125|PMID:19286384|PMID:20421365|PMID:21168446|PMID:21493625|PMID:2288874|PMID:23230147|PMID:25741868|PMID:28492532|PMID:31574566 11692259 NEFL neurofilament light chain gene DOID:0110165 Charcot-Marie-Tooth disease type 2E ISO RGD:1344238 D RGD:7240710 20180130 OMIM 11692259 NEFL neurofilament light chain gene DOID:0110165 Charcot-Marie-Tooth disease type 2E ISO RGD:1344238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2E PMID:10841809|PMID:11220745|PMID:12393795|PMID:12477167|PMID:12481988|PMID:12566280|PMID:14733962|PMID:15111691|PMID:15241803|PMID:16199547|PMID:16452125|PMID:16619203|PMID:16930284|PMID:17052987|PMID:17576681|PMID:17620486|PMID:17881652|PMID:19123978|PMID:19158810|PMID:19286384|PMID:19458545|PMID:20039262|PMID:20301384|PMID:20421365|PMID:21149811|PMID:21168446|PMID:21493625|PMID:21840889|PMID:22155564|PMID:22206013|PMID:22288874|PMID:22765307|PMID:2288874|PMID:23230147|PMID:23618875|PMID:24078732|PMID:24887401|PMID:25264603|PMID:25448007|PMID:25552649|PMID:25583183|PMID:25741868|PMID:25741869|PMID:25802885|PMID:25877835|PMID:26109717|PMID:26392352|PMID:26467025|PMID:26645395|PMID:27206872|PMID:27549087|PMID:28492532|PMID:28501821|PMID:29888333|PMID:30373780|PMID:30393079|PMID:31574566|PMID:31788662|PMID:31827005|PMID:32376792|PMID:33201363|PMID:9536098 11692259 NEFL neurofilament light chain gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:1344238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy 11692259 NEFL neurofilament light chain gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:1344238 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:25741868|PMID:26467025|PMID:28492532 11692259 NEFL neurofilament light chain gene DOID:0111559 Charcot-Marie-Tooth disease type 2EE ISO RGD:1344238 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE PMID:25741868 11692259 NEFL neurofilament light chain gene DOID:10003 sensorineural hearing loss ISO RGD:1344238 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:12477167|PMID:12566280|PMID:19158810|PMID:20301384|PMID:21840889|PMID:25448007|PMID:25552649|PMID:25741868|PMID:25741869|PMID:26645395|PMID:27206872|PMID:28492532|PMID:32376792 11692259 NEFL neurofilament light chain gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1344238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11220745|PMID:12477167|PMID:12566280|PMID:14733962|PMID:16619203|PMID:16930284|PMID:17052987|PMID:17620486|PMID:17881652|PMID:19158810|PMID:19458545|PMID:20039262|PMID:20301384|PMID:21149811|PMID:21493625|PMID:21840889|PMID:22155564|PMID:22206013|PMID:22288874|PMID:22765307|PMID:23618875|PMID:24887401|PMID:25264603|PMID:25448007|PMID:25552649|PMID:25741868|PMID:25741869|PMID:25802885|PMID:25877835|PMID:26109717|PMID:26467025|PMID:26645395|PMID:27206872|PMID:27549087|PMID:28492532|PMID:28501821|PMID:30373780|PMID:31574566|PMID:31788662|PMID:32376792|PMID:33201363 11692259 NEFL neurofilament light chain gene DOID:10652 Alzheimer's disease ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:29368621|PMID:29391125|REF_RGD_ID:127284889|REF_RGD_ID:127285384 11692259 NEFL neurofilament light chain gene DOID:11446 sciatic neuropathy ISO RGD:621458 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1 PMID:12638730|REF_RGD_ID:9743948 11692259 NEFL neurofilament light chain gene DOID:11446 sciatic neuropathy ISO RGD:621458 D RGD:9068941 20201211 RGD PMID:12445968|PMID:3135913|REF_RGD_ID:9693730|REF_RGD_ID:9743941 11692259 NEFL neurofilament light chain gene DOID:11720 distal myopathy ISO RGD:1344238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal muscle weakness PMID:12481988|PMID:15111691|PMID:16452125|PMID:19286384|PMID:21168446|PMID:25741868|PMID:28492532 11692259 NEFL neurofilament light chain gene DOID:11720 distal myopathy ISO RGD:1344238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Distal muscle weakness PMID:12481988|PMID:15111691|PMID:16452125|PMID:19286384|PMID:20421365|PMID:21168446|PMID:21493625|PMID:2288874|PMID:23230147|PMID:25741868|PMID:28492532|PMID:31574566 11692259 NEFL neurofilament light chain gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:29368621|PMID:30309804|PMID:31541342|REF_RGD_ID:127284880|REF_RGD_ID:127284881|REF_RGD_ID:127284889 11692259 NEFL neurofilament light chain gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF, serum (human) PMID:27929120|REF_RGD_ID:127284887 11692259 NEFL neurofilament light chain gene DOID:12217 Lewy body dementia ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:29368621|PMID:29391125|REF_RGD_ID:127284889|REF_RGD_ID:127285384 11692259 NEFL neurofilament light chain gene DOID:12377 spinal muscular atrophy ISO RGD:1344238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy 11692259 NEFL neurofilament light chain gene DOID:12894 Sjogren's syndrome ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:32423153|REF_RGD_ID:127284890 11692259 NEFL neurofilament light chain gene DOID:14330 Parkinson's disease ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:29391125|REF_RGD_ID:127285384 11692259 NEFL neurofilament light chain gene DOID:1459 hypothyroidism treatment ISO RGD:621458 D RGD:9068941 20200609 RGD PMID:10439464|REF_RGD_ID:9743942 11692259 NEFL neurofilament light chain gene DOID:1596 depressive disorder ISO RGD:621458 D RGD:9068941 20200609 RGD protein:decreased expression:dentate gyrus, hippocampus CA3 PMID:17683840|REF_RGD_ID:2299053 11692259 NEFL neurofilament light chain gene DOID:224 transient cerebral ischemia ISO RGD:621458 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:8726968|REF_RGD_ID:9743938 11692259 NEFL neurofilament light chain gene DOID:2377 multiple sclerosis ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:serum (human) PMID:33317883|REF_RGD_ID:127285024 11692259 NEFL neurofilament light chain gene DOID:2377 multiple sclerosis disease_progression ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expresssion:serum (human) PMID:31383792|REF_RGD_ID:127284875 11692259 NEFL neurofilament light chain gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:1344238 D RGD:9068941 20210618 RGD protein:increased expression:CSF (human) PMID:33658322|REF_RGD_ID:127285027 11692259 NEFL neurofilament light chain gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:1344238 D RGD:9068941 20210625 RGD associated with relapse;protein:increased expression:serum (human) PMID:30761586|REF_RGD_ID:127285025 11692259 NEFL neurofilament light chain gene DOID:3008 invasive ductal carcinoma ISO RGD:1344238 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity PMID:8814452|REF_RGD_ID:2298999 11692259 NEFL neurofilament light chain gene DOID:3213 demyelinating disease disease_progression ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expresssion:serum (human) PMID:31383792|REF_RGD_ID:127284875 11692259 NEFL neurofilament light chain gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:1344238 D RGD:9068941 20200609 RGD protein:increased expression:serum, csf PMID:26273687|REF_RGD_ID:13525006 11692259 NEFL neurofilament light chain gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:1344238 D RGD:9068941 20210618 RGD protein:increased expression:serum (human) PMID:30309882|REF_RGD_ID:127284877 11692259 NEFL neurofilament light chain gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:1552280 D RGD:9068941 20200609 RGD PMID:10686419|REF_RGD_ID:13525000 11692259 NEFL neurofilament light chain gene DOID:3525 middle cerebral artery infarction ISO RGD:1552280 D RGD:9068941 20201211 RGD protein:increased expression:brain PMID:29967576|REF_RGD_ID:27226878 11692259 NEFL neurofilament light chain gene DOID:4166 syphilis ISO RGD:1344238 D RGD:9068941 20210618 RGD associated with age;protein:increased expression:CSF (human) PMID:32117023|REF_RGD_ID:127285386 11692259 NEFL neurofilament light chain gene DOID:526 human immunodeficiency virus infectious disease treatment ISO RGD:1344238 D RGD:9068941 20210625 RGD PMID:30005007|REF_RGD_ID:127285390 11692259 NEFL neurofilament light chain gene DOID:574 peripheral nervous system disease ISO RGD:1344238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:12481988|PMID:15111691|PMID:16452125|PMID:19286384|PMID:20421365|PMID:21168446|PMID:21493625|PMID:2288874|PMID:23230147|PMID:25741868|PMID:28492532|PMID:31574566 11692259 NEFL neurofilament light chain gene DOID:630 genetic disease ISO RGD:1344238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11220745|PMID:12481988|PMID:12566280|PMID:15111691|PMID:16452125|PMID:16930284|PMID:17052987|PMID:17620486|PMID:17881652|PMID:19158810|PMID:19286384|PMID:19458545|PMID:20039262|PMID:20301384|PMID:20421365|PMID:21149811|PMID:21168446|PMID:21493625|PMID:22155564|PMID:22206013|PMID:2288874|PMID:23230147|PMID:23618875|PMID:24078732|PMID:25741868|PMID:25802885|PMID:26392352|PMID:26467025|PMID:28492532|PMID:28501821|PMID:30373780|PMID:31574566|PMID:33201363 11692259 NEFL neurofilament light chain gene DOID:639 acute disseminated encephalomyelitis disease_progression ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expresssion:serum (human) PMID:31383792|REF_RGD_ID:127284875 11692259 NEFL neurofilament light chain gene DOID:643 progressive multifocal leukoencephalopathy ISO RGD:1344238 D RGD:9068941 20210625 RGD associated with relapsing-remitting multiple sclerosis;protein:increased expression:serum (human) PMID:30761586|PMID:33903203|REF_RGD_ID:127284888|REF_RGD_ID:127285025 11692259 NEFL neurofilament light chain gene DOID:870 neuropathy ISO RGD:1344238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:12481988|PMID:15111691|PMID:16452125|PMID:19286384|PMID:20421365|PMID:21168446|PMID:21493625|PMID:2288874|PMID:23230147|PMID:25741868|PMID:28492532|PMID:31574566 11692259 NEFL neurofilament light chain gene DOID:8725 vascular dementia ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:29391125|REF_RGD_ID:127285384 11692259 NEFL neurofilament light chain gene DOID:8869 neuromyelitis optica ISO RGD:1344238 D RGD:9068941 20210618 RGD protein:increased expression:serum (human) PMID:33317883|REF_RGD_ID:127285024 11692259 NEFL neurofilament light chain gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:621458 D RGD:9068941 20200609 RGD PMID:18772508|REF_RGD_ID:9698443 11692259 NEFL neurofilament light chain gene DOID:9000794 Sporadic Creutzfeldt-Jakob Disease ISO RGD:1344238 D RGD:9068941 20210618 RGD protein:increased expression:CSF, serum (human) PMID:27929120|REF_RGD_ID:127284887 11692259 NEFL neurofilament light chain gene DOID:9000794 Sporadic Creutzfeldt-Jakob Disease severity ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:29391125|REF_RGD_ID:127285384 11692259 NEFL neurofilament light chain gene DOID:9001414 Neurosyphilis disease_progression ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:32117023|REF_RGD_ID:127285386 11692259 NEFL neurofilament light chain gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1344238 D RGD:9068941 20210618 RGD protein:increased expression:CSF (human) PMID:29368621|REF_RGD_ID:127284889 11692259 NEFL neurofilament light chain gene DOID:9002498 Wallerian Degeneration ISO RGD:621458 D RGD:9068941 20200609 RGD protein:decreased expression:neuron PMID:10646539|REF_RGD_ID:9698439 11692259 NEFL neurofilament light chain gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:621458 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid, spinal cord PMID:16182933|REF_RGD_ID:2299007 11692259 NEFL neurofilament light chain gene DOID:9003034 Anti-N-Methyl-D-Aspartate Receptor Encephalitis treatment ISO RGD:1344238 D RGD:9068941 20200609 RGD PMID:31313506|REF_RGD_ID:27226816 11692259 NEFL neurofilament light chain gene DOID:9003284 HIV Seropositivity treatment ISO RGD:1344238 D RGD:9068941 20210618 RGD PMID:30105502|REF_RGD_ID:127284876 11692259 NEFL neurofilament light chain gene DOID:9004086 AIDS Dementia Complex ISO RGD:1344238 D RGD:9068941 20210625 RGD associated with HIV Seropositivity;protein:increased expression:plasma, CSF (human) PMID:30105502|REF_RGD_ID:127284876 11692259 NEFL neurofilament light chain gene DOID:9004086 AIDS Dementia Complex ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:27400930|REF_RGD_ID:127284885 11692259 NEFL neurofilament light chain gene DOID:9004484 Sepsis disease_progression ISO RGD:1344238 D RGD:9068941 20200609 RGD PMID:30677080|REF_RGD_ID:27226881 11692259 NEFL neurofilament light chain gene DOID:9005695 Malnutrition ISO RGD:621458 D RGD:9068941 20201211 RGD protein:increased expression:cerebral cortex PMID:1908892|REF_RGD_ID:40902817 11692259 NEFL neurofilament light chain gene DOID:9007096 Stroke ISO RGD:1344238 D RGD:9068941 20200609 RGD PMID:29967576|REF_RGD_ID:27226878 11692259 NEFL neurofilament light chain gene DOID:9007842 Sepsis-Associated Encephalopathy disease_progression ISO RGD:1344238 D RGD:9068941 20200609 RGD PMID:30677080|REF_RGD_ID:27226881 11692259 NEFL neurofilament light chain gene DOID:9008305 Talipes Cavus ISO RGD:1344238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pes cavus PMID:12481988|PMID:15111691|PMID:16452125|PMID:19286384|PMID:20421365|PMID:21168446|PMID:21493625|PMID:2288874|PMID:23230147|PMID:25741868|PMID:28492532|PMID:31574566 11692259 NEFL neurofilament light chain gene DOID:9255 frontotemporal dementia ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:29391125|REF_RGD_ID:127285384 11692290 MSI2 musashi RNA binding protein 2 gene DOID:0050777 Joubert syndrome ISO RGD:1352746 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11692290 MSI2 musashi RNA binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1352746 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11692290 MSI2 musashi RNA binding protein 2 gene DOID:630 genetic disease ISO RGD:1352746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11692314 PGBD4 piggyBac transposable element derived 4 gene DOID:2717 Bloom syndrome ISO RGD:1349164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11692314 PGBD4 piggyBac transposable element derived 4 gene DOID:630 genetic disease ISO RGD:1349164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11692314 PGBD4 piggyBac transposable element derived 4 gene DOID:9256 colorectal cancer ISO RGD:1349164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11692319 ZMYND12 zinc finger MYND-type containing 12 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1316209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11692319 ZMYND12 zinc finger MYND-type containing 12 gene DOID:630 genetic disease ISO RGD:1316209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11692338 ZNF662 zinc finger protein 662 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1602806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 11692338 ZNF662 zinc finger protein 662 gene DOID:630 genetic disease ISO RGD:1602806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11692346 ECE1 endothelin converting enzyme 1 gene DOID:0050855 renal fibrosis ISO RGD:620293 D RGD:9068941 20200609 RGD associated with Ureteral obstruction;mRNA:increased expression:kidney PMID:11078391|REF_RGD_ID:7244179 11692346 ECE1 endothelin converting enzyme 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:731823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11692346 ECE1 endothelin converting enzyme 1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:731823 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11692346 ECE1 endothelin converting enzyme 1 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:731823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11692346 ECE1 endothelin converting enzyme 1 gene DOID:10487 Hirschsprung's disease ISO RGD:731823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 11692346 ECE1 endothelin converting enzyme 1 gene DOID:10652 Alzheimer's disease ISO RGD:731823 D RGD:9068941 20200609 RGD PMID:15340356|REF_RGD_ID:1580902 11692346 ECE1 endothelin converting enzyme 1 gene DOID:10763 hypertension ISO RGD:620293 D RGD:9068941 20200609 RGD PMID:12193123|REF_RGD_ID:1580907 11692346 ECE1 endothelin converting enzyme 1 gene DOID:10763 hypertension ISO RGD:620293 D RGD:9068941 20200609 RGD mRNA,protein:increased expression,increased activity:kidney medulla PMID:10894793|REF_RGD_ID:7244182 11692346 ECE1 endothelin converting enzyme 1 gene DOID:10763 hypertension ISO RGD:731823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12566389 11692346 ECE1 endothelin converting enzyme 1 gene DOID:10763 hypertension ISO RGD:731823 D RGD:9068941 20200609 RGD PMID:15126915|REF_RGD_ID:1580904 11692346 ECE1 endothelin converting enzyme 1 gene DOID:10825 essential hypertension ISO RGD:731823 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 11692346 ECE1 endothelin converting enzyme 1 gene DOID:10825 essential hypertension susceptibility ISO RGD:731823 D RGD:7240710 20230510 OMIM 11692346 ECE1 endothelin converting enzyme 1 gene DOID:11465 autonomic nervous system disease ISO RGD:731823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9915973 11692346 ECE1 endothelin converting enzyme 1 gene DOID:1184 nephrotic syndrome ISO RGD:620293 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:12972712|REF_RGD_ID:7244242 11692346 ECE1 endothelin converting enzyme 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:731823 D RGD:9068941 20200609 RGD PMID:11145756|REF_RGD_ID:1580911 11692346 ECE1 endothelin converting enzyme 1 gene DOID:1682 congenital heart disease ISO RGD:731823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9449665|PMID:9915973 11692346 ECE1 endothelin converting enzyme 1 gene DOID:3021 acute kidney failure ISO RGD:620293 D RGD:9068941 20200609 RGD PMID:10073607|PMID:11043448|REF_RGD_ID:7244180|REF_RGD_ID:7244185 11692346 ECE1 endothelin converting enzyme 1 gene DOID:3393 coronary artery disease ISO RGD:731823 D RGD:9068941 20200609 RGD PMID:10973835|REF_RGD_ID:1580909 11692346 ECE1 endothelin converting enzyme 1 gene DOID:3393 coronary artery disease ISO RGD:731823 D RGD:9068941 20200609 RGD protein:increased expression:smooth muscle cell,macrophage PMID:8994440|REF_RGD_ID:7244168 11692346 ECE1 endothelin converting enzyme 1 gene DOID:3454 brain infarction ISO RGD:1552140 D RGD:9068941 20200609 RGD PMID:15485550|REF_RGD_ID:1580908 11692346 ECE1 endothelin converting enzyme 1 gene DOID:5844 myocardial infarction ISO RGD:731823 D RGD:9068941 20200609 RGD PMID:9607404|REF_RGD_ID:1580912 11692346 ECE1 endothelin converting enzyme 1 gene DOID:6000 congestive heart failure ISO RGD:620293 D RGD:9068941 20200609 RGD associated with myocardial ischemia PMID:19596829|REF_RGD_ID:7243876 11692346 ECE1 endothelin converting enzyme 1 gene DOID:6000 congestive heart failure ISO RGD:620293 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:9595392|REF_RGD_ID:7244244 11692346 ECE1 endothelin converting enzyme 1 gene DOID:6000 congestive heart failure ISO RGD:731823 D RGD:9068941 20200609 RGD PMID:11145756|REF_RGD_ID:1580911 11692346 ECE1 endothelin converting enzyme 1 gene DOID:630 genetic disease ISO RGD:731823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11692346 ECE1 endothelin converting enzyme 1 gene DOID:6406 double outlet right ventricle ISO RGD:1552140 D RGD:9068941 20220825 MouseDO OMIM:217095 11692346 ECE1 endothelin converting enzyme 1 gene DOID:6432 pulmonary hypertension ISO RGD:620293 D RGD:9068941 20200609 RGD associated with Anoxia; PMID:18767389|REF_RGD_ID:7243939 11692346 ECE1 endothelin converting enzyme 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:620293 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:16170464|REF_RGD_ID:7243952 11692346 ECE1 endothelin converting enzyme 1 gene DOID:9001782 Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction ISO RGD:731823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, cardiac defects, and autonomic dysfunction PMID:25741868|PMID:34298581|PMID:8530372|PMID:9915973 11692346 ECE1 endothelin converting enzyme 1 gene DOID:9001782 Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction susceptibility ISO RGD:731823 D RGD:7240710 20230510 OMIM 11692346 ECE1 endothelin converting enzyme 1 gene DOID:9002514 Neointima ISO RGD:620293 D RGD:9068941 20200609 RGD mRNA:increased expression:carotid artery PMID:8575076|REF_RGD_ID:7244170 11692346 ECE1 endothelin converting enzyme 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1552140 D RGD:9068941 20200609 RGD PMID:9649553|REF_RGD_ID:734910 11692346 ECE1 endothelin converting enzyme 1 gene DOID:9004283 Transplant Rejection ISO RGD:620293 D RGD:9068941 20200609 RGD PMID:10401760|REF_RGD_ID:7244165 11692346 ECE1 endothelin converting enzyme 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:620293 D RGD:9068941 20200609 RGD associated with Hypertension, Renovascular and Diabetes Mellitus, Experimental;mRNA,protein:increased expression:heart left ventricle PMID:14627492|REF_RGD_ID:7244172 11692346 ECE1 endothelin converting enzyme 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620293 D RGD:9068941 20200609 RGD mRNA:increased expression:thoracic aorta PMID:23600389|REF_RGD_ID:7243858 11692346 ECE1 endothelin converting enzyme 1 gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:620293 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney medulla PMID:18385664|REF_RGD_ID:7243946 11692346 ECE1 endothelin converting enzyme 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:731823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11692346 ECE1 endothelin converting enzyme 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620293 D RGD:9068941 20200609 RGD PMID:12193087|PMID:18586023|REF_RGD_ID:4892580|REF_RGD_ID:7244160 11692346 ECE1 endothelin converting enzyme 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:731823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9449665 11692346 ECE1 endothelin converting enzyme 1 gene DOID:9279 hyperhomocysteinemia ISO RGD:620293 D RGD:9068941 20200609 RGD PMID:19371338|REF_RGD_ID:4892572 11692346 ECE1 endothelin converting enzyme 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16387788 11692368 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0050471 Carney complex ISO RGD:735732 D RGD:7240710 20180130 OMIM 11692368 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0050471 Carney complex ISO RGD:735732 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carney complex | ClinVar Annotator: match by term: Carney complex, type 1 PMID:10973256|PMID:10974026|PMID:11115848|PMID:12213893|PMID:12424709|PMID:12950501|PMID:15371594|PMID:15992699|PMID:16199547|PMID:16569736|PMID:17396442|PMID:17576681|PMID:18056771|PMID:18223213|PMID:18241045|PMID:18445140|PMID:19265501|PMID:19293268|PMID:20358582|PMID:20924687|PMID:21047926|PMID:21651393|PMID:21850686|PMID:21900385|PMID:22112814|PMID:22259056|PMID:22341669|PMID:22464250|PMID:22464252|PMID:22785148|PMID:23043190|PMID:23425300|PMID:23942052|PMID:24033266|PMID:24170103|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26354069|PMID:26405036|PMID:26822237|PMID:27589370|PMID:27825928|PMID:27930734|PMID:28051113|PMID:28255981|PMID:28492532|PMID:28640241|PMID:28804209|PMID:29264456|PMID:32287321|PMID:32443704|PMID:35586626|PMID:9536098 11692368 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:735732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15521956 11692368 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0050902 medulloblastoma ISO RGD:735732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:26822237|PMID:28492532 11692368 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0060280 primary pigmented nodular adrenocortical disease ISO RGD:735733 D RGD:9068941 20220825 MouseDO OMIM:610475 | OMIM:610489 | OMIM:614190 | OMIM:615830 11692368 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0060318 acute promyelocytic leukemia ISO RGD:735732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17712046 11692368 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0080074 neural tube defect ISO RGD:735732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect 11692368 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0110066 amelogenesis imperfecta type 1G ISO RGD:735732 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G PMID:21990045|PMID:23434854|PMID:23468644|PMID:24196488|PMID:25741868|PMID:28492532|PMID:32246227 11692368 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0110081 arrhythmogenic right ventricular dysplasia 10 ISO RGD:735732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 PMID:25741868 11692368 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:14669 acrodysostosis ISO RGD:735732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acrodysostosis PMID:25741868|PMID:28492532 11692368 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:3962 thyroid gland follicular carcinoma ISO RGD:735733 D RGD:9068941 20220825 MouseDO OMIM:188470 11692368 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:4195 hyperglycemia ISO RGD:735732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29367455 11692368 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:4367 apparent mineralocorticoid excess syndrome ISO RGD:735732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15521956 11692368 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:630 genetic disease ISO RGD:735732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11692368 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:767 muscular atrophy ISO RGD:735732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29367455 11692368 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9001451 Acrodysostosis 1, with or without Hormone Resistance ISO RGD:735732 D RGD:7240710 20180130 OMIM 11692368 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9001451 Acrodysostosis 1, with or without Hormone Resistance ISO RGD:735732 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acrodysostosis 1 with or without hormone resistance PMID:11200992|PMID:21651393|PMID:22464250|PMID:22464252|PMID:23043190|PMID:23425300|PMID:25741868|PMID:26405036|PMID:27589370|PMID:28051113|PMID:28492532|PMID:28804209|PMID:29264456|PMID:32443704 11692368 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9003253 Myxoma ISO RGD:735732 D RGD:9068941 20200609 RGD PMID:10973256|REF_RGD_ID:1581267 11692368 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9005158 Cushing Syndrome ISO RGD:735732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15521956|PMID:29367455 11692368 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9005158 Cushing Syndrome ISO RGD:735732 D RGD:9068941 20200609 RGD PMID:12213893|REF_RGD_ID:1581269 11692368 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9005209 Usher Syndrome Type 4 ISO RGD:735732 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 4 PMID:28492532|PMID:33300174|PMID:36317447 11692368 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9005321 Primary Pigmented Nodular Adrenocortical Disease, 1 ISO RGD:735732 D RGD:7240710 20180130 OMIM 11692368 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9005321 Primary Pigmented Nodular Adrenocortical Disease, 1 ISO RGD:735732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 1 PMID:12213893|PMID:17576681|PMID:21651393|PMID:22464250|PMID:23043190|PMID:25741868|PMID:26405036|PMID:27589370|PMID:28492532|PMID:28804209|PMID:9536098 11692368 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9005582 Adrenal Cortex Neoplasms ISO RGD:735732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortical tumor, somatic PMID:12203783|PMID:14500362 11692368 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735732 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15371594|PMID:17576681|PMID:18241045|PMID:18445140|PMID:20358582|PMID:23942052|PMID:25637381|PMID:25741868|PMID:26822237|PMID:27825928|PMID:27930734|PMID:28051113|PMID:28492532|PMID:29264456|PMID:32287321|PMID:32443704|PMID:9536098 11692368 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735732 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15371594|PMID:17576681|PMID:18241045|PMID:18445140|PMID:20358582|PMID:23942052|PMID:25637381|PMID:25741868|PMID:26822237|PMID:27825928|PMID:27930734|PMID:28051113|PMID:28492532|PMID:29264456|PMID:32287321|PMID:32443704|PMID:35586626|PMID:9536098 11692368 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9007692 Insulin Resistance ISO RGD:735732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29367455 11692368 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9007814 Familial Atrial Myxoma ISO RGD:735732 D RGD:7240710 20180130 OMIM 11692368 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9007814 Familial Atrial Myxoma ISO RGD:735732 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial atrial myxoma PMID:10973256|PMID:1263542 11692368 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:987 alopecia ISO RGD:735732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29367455 11692368 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9970 obesity ISO RGD:735732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29367455 11692392 CPNE7 copine 7 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1316677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 11692392 CPNE7 copine 7 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1316677 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11692392 CPNE7 copine 7 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1316677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:23613520 11692392 CPNE7 copine 7 gene DOID:13636 Fanconi anemia ISO RGD:1316677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 11692392 CPNE7 copine 7 gene DOID:14780 KBG syndrome ISO RGD:1316677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 11692392 CPNE7 copine 7 gene DOID:630 genetic disease ISO RGD:1316677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11692392 CPNE7 copine 7 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1316677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 11692410 TMEM131 transmembrane protein 131 gene DOID:630 genetic disease ISO RGD:1606821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11692465 NEK5 NIMA related kinase 5 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1344374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11692465 NEK5 NIMA related kinase 5 gene DOID:1059 intellectual disability ISO RGD:1344374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11692465 NEK5 NIMA related kinase 5 gene DOID:630 genetic disease ISO RGD:1344374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11692490 SDHC succinate dehydrogenase complex subunit C gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1354327 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1 PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 11692490 SDHC succinate dehydrogenase complex subunit C gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 11692490 SDHC succinate dehydrogenase complex subunit C gene DOID:0050771 pheochromocytoma ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:12807974|PMID:17468193|PMID:19454582|PMID:22517554|PMID:22703879|PMID:23342407|PMID:24033266|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532 11692490 SDHC succinate dehydrogenase complex subunit C gene DOID:0050773 paraganglioma ISO RGD:1354327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:12658451|PMID:12807974|PMID:15989954|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17898811|PMID:19351833|PMID:19454582|PMID:21106325|PMID:21173220|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25637381|PMID:25741868|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27700540|PMID:28412079|PMID:28492532|PMID:28819017|PMID:29386252|PMID:29878124|PMID:30050099|PMID:30548481|PMID:31194233|PMID:31308404|PMID:32688340|PMID:33332384|PMID:33748650|PMID:34558728|PMID:9536098 11692490 SDHC succinate dehydrogenase complex subunit C gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1354327 D RGD:7240710 20180130 OMIM 11692490 SDHC succinate dehydrogenase complex subunit C gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1354327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor PMID:12658451|PMID:12807974|PMID:17468193|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17898811|PMID:19454582|PMID:21173220|PMID:23083876|PMID:23282968|PMID:23342407|PMID:24033266|PMID:24402737|PMID:24423348|PMID:24523625|PMID:24758179|PMID:25024072|PMID:25741868|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27700540|PMID:28492532|PMID:28819017|PMID:30548481|PMID:9536098 11692490 SDHC succinate dehydrogenase complex subunit C gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11692490 SDHC succinate dehydrogenase complex subunit C gene DOID:0110152 Charcot-Marie-Tooth disease type 1B ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1B PMID:26378787 11692490 SDHC succinate dehydrogenase complex subunit C gene DOID:0110195 Charcot-Marie-Tooth disease type 4E ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypomyelination, severe congenital PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 11692490 SDHC succinate dehydrogenase complex subunit C gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 11692490 SDHC succinate dehydrogenase complex subunit C gene DOID:1540 parathyroid carcinoma ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11692490 SDHC succinate dehydrogenase complex subunit C gene DOID:1612 breast cancer ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:23175444|PMID:24033266|PMID:24466223|PMID:25741868|PMID:26467025|PMID:27153395|PMID:28492532 11692490 SDHC succinate dehydrogenase complex subunit C gene DOID:2394 ovarian cancer ISO RGD:1354327 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:23175444|PMID:24033266|PMID:24466223|PMID:25741868|PMID:26467025|PMID:27153395|PMID:28492532 11692490 SDHC succinate dehydrogenase complex subunit C gene DOID:3247 rhabdomyosarcoma ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:23083876|PMID:24423348|PMID:24758179|PMID:25741868|PMID:27700540|PMID:28492532|PMID:33372952 11692490 SDHC succinate dehydrogenase complex subunit C gene DOID:3652 Leigh disease ISO RGD:1553681 D RGD:9068941 20220825 MouseDO OMIM:256000 11692490 SDHC succinate dehydrogenase complex subunit C gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1354327 D RGD:9068941 20210820 RGD DNA:SNP: 3'utr (rs12064957) (human) PMID:25576295|REF_RGD_ID:150340558 11692490 SDHC succinate dehydrogenase complex subunit C gene DOID:9003626 Paragangliomas 3 ISO RGD:1354327 D RGD:7240710 20180130 OMIM 11692490 SDHC succinate dehydrogenase complex subunit C gene DOID:9003626 Paragangliomas 3 ISO RGD:1354327 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: Paragangliomas 3 | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16249420|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:19351833|PMID:19454582|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25637381|PMID:25741868|PMID:25950479|PMID:26173966|PMID:26273102|PMID:26467025|PMID:26492543|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:28412079|PMID:28492532|PMID:28819017|PMID:29386252|PMID:31308404|PMID:33372952|PMID:34558728|PMID:9536098 11692490 SDHC succinate dehydrogenase complex subunit C gene DOID:9003626 Paragangliomas 3 ISO RGD:1354327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: Paragangliomas 3 PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25637381|PMID:25741868|PMID:25950479|PMID:25950813|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28412079|PMID:28492532|PMID:28819017|PMID:29386252|PMID:29878124|PMID:30050099|PMID:30548481|PMID:30877234|PMID:31194233|PMID:31308404|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33372952|PMID:33748650|PMID:34558728|PMID:9536098 11692490 SDHC succinate dehydrogenase complex subunit C gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:1354327 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:12807974|PMID:17468193|PMID:19454582|PMID:22703879|PMID:23342407|PMID:24033266|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532 11692490 SDHC succinate dehydrogenase complex subunit C gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:1354327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:12658451|PMID:12807974|PMID:15989954|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17898811|PMID:19351833|PMID:19454582|PMID:21106325|PMID:21173220|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25637381|PMID:25741868|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27700540|PMID:28412079|PMID:28492532|PMID:28819017|PMID:29386252|PMID:29878124|PMID:30050099|PMID:30548481|PMID:31194233|PMID:31308404|PMID:32688340|PMID:33332384|PMID:33748650|PMID:34558728|PMID:9536098 11692490 SDHC succinate dehydrogenase complex subunit C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11062460|PMID:12658451|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17298551|PMID:17376234|PMID:17576681|PMID:17667967|PMID:17898811|PMID:19351833|PMID:19454582|PMID:21106325|PMID:21173220|PMID:21822798|PMID:21979946|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:26173966|PMID:26273102|PMID:26467025|PMID:26492543|PMID:27153395|PMID:27279923|PMID:27700540|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:31308404|PMID:34558728|PMID:9536098 11692490 SDHC succinate dehydrogenase complex subunit C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354327 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17298551|PMID:17376234|PMID:17468193|PMID:17576681|PMID:17667967|PMID:17898811|PMID:19351833|PMID:19454582|PMID:21106325|PMID:21173220|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:26173966|PMID:26273102|PMID:26467025|PMID:26492543|PMID:27153395|PMID:27279923|PMID:27700540|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:31308404|PMID:34558728|PMID:9536098 11692490 SDHC succinate dehydrogenase complex subunit C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354327 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25950479|PMID:25950813|PMID:26173966|PMID:26198225|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30548481|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33397043|PMID:33748650|PMID:34558728|PMID:9536098 11692490 SDHC succinate dehydrogenase complex subunit C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354327 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25950479|PMID:25950813|PMID:26173966|PMID:26198225|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30548481|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:31666924|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33397043|PMID:33748650|PMID:34558728|PMID:34663632|PMID:9536098 11692490 SDHC succinate dehydrogenase complex subunit C gene DOID:9007167 Carney Triad ISO RGD:1354327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA PMID:12658451|PMID:17576681|PMID:17667967|PMID:17804857|PMID:19351833|PMID:21173220|PMID:21822798|PMID:24402737|PMID:26173966|PMID:28492532|PMID:9536098 11692490 SDHC succinate dehydrogenase complex subunit C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354327 D RGD:7240710 20180130 OMIM 11692490 SDHC succinate dehydrogenase complex subunit C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354327 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor of small intestine | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17376234|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25950479|PMID:25950813|PMID:26162468|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27485256|PMID:27700540|PMID:27867439|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30548481|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33748650|PMID:34558728|PMID:9536098 11692490 SDHC succinate dehydrogenase complex subunit C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25787132|PMID:25950479|PMID:25950813|PMID:26162468|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27485256|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30548481|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:31666924|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33748650|PMID:34558728|PMID:9536098 11692490 SDHC succinate dehydrogenase complex subunit C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25950479|PMID:25950813|PMID:26162468|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27485256|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30548481|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:31666924|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33748650|PMID:34558728|PMID:9536098 11692509 SLC22A10 solute carrier family 22 member 10 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602951 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11692509 SLC22A10 solute carrier family 22 member 10 gene DOID:1059 intellectual disability ISO RGD:1602951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11692509 SLC22A10 solute carrier family 22 member 10 gene DOID:3068 glioblastoma ISO RGD:1602951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11692509 SLC22A10 solute carrier family 22 member 10 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1602951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11692509 SLC22A10 solute carrier family 22 member 10 gene DOID:630 genetic disease ISO RGD:1602951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11692509 SLC22A10 solute carrier family 22 member 10 gene DOID:684 hepatocellular carcinoma ISO RGD:1602951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560|PMID:30705370 11692509 SLC22A10 solute carrier family 22 member 10 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1602951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11692509 SLC22A10 solute carrier family 22 member 10 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1602951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11692534 C2CD4C C2 calcium dependent domain containing 4C gene DOID:630 genetic disease ISO RGD:1351171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11692539 WASHC5 WASH complex subunit 5 gene DOID:0060565 Ritscher-Schinzel syndrome ISO RGD:1605096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11692539 WASHC5 WASH complex subunit 5 gene DOID:0060571 Ritscher-Schinzel syndrome 1 ISO RGD:1605096 D RGD:7240710 20181010 OMIM 11692539 WASHC5 WASH complex subunit 5 gene DOID:0060571 Ritscher-Schinzel syndrome 1 ISO RGD:1605096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 PMID:24065355|PMID:24824269|PMID:25741868|PMID:26467025|PMID:27957547|PMID:28492532|PMID:31971710|PMID:7604842 11692539 WASHC5 WASH complex subunit 5 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1605096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant 11692539 WASHC5 WASH complex subunit 5 gene DOID:0110823 hereditary spastic paraplegia 8 ISO RGD:1605096 D RGD:7240710 20180130 OMIM 11692539 WASHC5 WASH complex subunit 5 gene DOID:0110823 hereditary spastic paraplegia 8 ISO RGD:1605096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 PMID:10797436|PMID:16199547|PMID:17160902|PMID:17576681|PMID:20301727|PMID:20833645|PMID:23455931|PMID:23881105|PMID:24065355|PMID:24123792|PMID:24451228|PMID:24759409|PMID:24824269|PMID:25741868|PMID:26467025|PMID:27957547|PMID:28492532|PMID:30564185|PMID:30778698|PMID:30896870|PMID:31227335|PMID:31814071|PMID:9536098 11692539 WASHC5 WASH complex subunit 5 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1605096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11692539 WASHC5 WASH complex subunit 5 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1605096 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia PMID:17160902|PMID:25741868|PMID:26467025|PMID:28492532 11692539 WASHC5 WASH complex subunit 5 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1605096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17160902|PMID:20301727|PMID:25741868|PMID:26467025|PMID:27957547|PMID:28492532|PMID:30896870|PMID:31227335 11692539 WASHC5 WASH complex subunit 5 gene DOID:607 paraplegia ISO RGD:1605096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:26467025|PMID:28492532 11692539 WASHC5 WASH complex subunit 5 gene DOID:630 genetic disease ISO RGD:1605096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30564185|PMID:31814071 11692539 WASHC5 WASH complex subunit 5 gene DOID:9005532 Muscle Weakness ISO RGD:1605096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868|PMID:28492532 11692539 WASHC5 WASH complex subunit 5 gene DOID:9007428 Muscle Spasticity ISO RGD:1605096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spasticity PMID:17576681|PMID:28492532|PMID:9536098 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1316171 D RGD:9068941 20220825 MouseDO OMIM:236670 | OMIM:253280 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:0060263 porencephaly ISO RGD:1316170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY | ClinVar Annotator: match by term: Hemiplegia, infantile, with porencephaly | ClinVar Annotator: match by term: Porencephaly PMID:16598045|PMID:17078022|PMID:17576681|PMID:17696175|PMID:17938367|PMID:18077766|PMID:19344236|PMID:19477666|PMID:20301768|PMID:20385946|PMID:20733150|PMID:21527998|PMID:21625620|PMID:22102590|PMID:22522439|PMID:22574627|PMID:22914737|PMID:23225343|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25719457|PMID:25741868|PMID:26310487|PMID:26362372|PMID:26467025|PMID:28492532|PMID:29602769|PMID:30653986|PMID:31051113|PMID:31230195|PMID:31719132|PMID:31857254|PMID:32033901|PMID:32515830|PMID:33353976|PMID:33527515|PMID:3691802|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9536098|PMID:9724608 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:0060648 anterior segment dysgenesis ISO RGD:1316170 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:17078022|PMID:19344236|PMID:25590979|PMID:25741868|PMID:28492532|PMID:30181649|PMID:32499604|PMID:7695699|PMID:8218237|PMID:9016532 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:0080205 CAKUT ISO RGD:1316170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:25741868|PMID:28492532|PMID:31230195 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:0090125 brain small vessel disease 1 ISO RGD:1316170 D RGD:7240710 20190515 OMIM 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:0090125 brain small vessel disease 1 ISO RGD:1316170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies | ClinVar Annotator: match by term: GOULD SYNDROME 1 | ClinVar Annotator: match by term: RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT PMID:10713126|PMID:10896941|PMID:12011424|PMID:15023374|PMID:15136694|PMID:15905400|PMID:16107487|PMID:16159887|PMID:16199547|PMID:16598045|PMID:17078022|PMID:17576681|PMID:17696175|PMID:17938367|PMID:18077766|PMID:19194877|PMID:19344236|PMID:19477666|PMID:20301768|PMID:20385946|PMID:20733150|PMID:21527998|PMID:21625620|PMID:22102590|PMID:2211826|PMID:22522439|PMID:22574627|PMID:22914737|PMID:23065703|PMID:23225343|PMID:23394911|PMID:24088041|PMID:24374867|PMID:24628545|PMID:25326635|PMID:25457163|PMID:25719457|PMID:25741868|PMID:25741869|PMID:26310487|PMID:26362372|PMID:26467025|PMID:26633545|PMID:28017902|PMID:28369186|PMID:28492532|PMID:29602769|PMID:29927466|PMID:30413629|PMID:30653986|PMID:31051113|PMID:31230195|PMID:31719132|PMID:31857254|PMID:32033901|PMID:32042920|PMID:32488064|PMID:32515830|PMID:32732225|PMID:32818659|PMID:33298904|PMID:33353976|PMID:33527515|PMID:34906502|PMID:3691802|PMID:6428250|PMID:7257746|PMID:7695699|PMID:8218237|PMID:9016532|PMID:906807|PMID:9536098|PMID:9724608 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:0090125 brain small vessel disease 1 ISO RGD:1316170 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies | ClinVar Annotator: match by term: GOULD SYNDROME 1 | ClinVar Annotator: match by term: RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT PMID:10713126|PMID:10896941|PMID:12011424|PMID:15023374|PMID:15136694|PMID:15905400|PMID:16107487|PMID:16159887|PMID:16199547|PMID:16598045|PMID:17078022|PMID:17576681|PMID:17696175|PMID:17938367|PMID:18077766|PMID:19194877|PMID:19344236|PMID:19477666|PMID:20301768|PMID:20385946|PMID:20733150|PMID:21527998|PMID:21625620|PMID:22102590|PMID:2211826|PMID:22522439|PMID:22574627|PMID:22914737|PMID:23065703|PMID:23225343|PMID:23394911|PMID:24088041|PMID:24374867|PMID:24628545|PMID:25326635|PMID:25457163|PMID:25590979|PMID:25719457|PMID:25741868|PMID:25741869|PMID:26310487|PMID:26362372|PMID:26467025|PMID:26633545|PMID:28017902|PMID:28369186|PMID:28492532|PMID:29602769|PMID:29927466|PMID:30181649|PMID:30413629|PMID:30653986|PMID:31051113|PMID:31230195|PMID:31719132|PMID:31857254|PMID:32033901|PMID:32042920|PMID:32488064|PMID:32499604|PMID:32515830|PMID:32732225|PMID:32818659|PMID:33298904|PMID:33353976|PMID:33527515|PMID:34906502|PMID:3691802|PMID:6428250|PMID:7257746|PMID:7695699|PMID:8218237|PMID:9016532|PMID:906807|PMID:9536098|PMID:9724608 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:0111547 retinal arterial tortuosity ISO RGD:1316170 D RGD:7240710 20180130 OMIM 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:0111547 retinal arterial tortuosity ISO RGD:1316170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal arterial tortuosity | ClinVar Annotator: match by term: Retinal arteries, tortuosity of PMID:17576681|PMID:20818663|PMID:22574627|PMID:22914737|PMID:23225343|PMID:24374867|PMID:24628545|PMID:25228067|PMID:25457163|PMID:25741868|PMID:26310487|PMID:26467025|PMID:28492532|PMID:30653986|PMID:31051113|PMID:31230195|PMID:31719132|PMID:33353976|PMID:33527515|PMID:3691802|PMID:9536098|PMID:9724608 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:0112313 brain small vessel disease ISO RGD:1316170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16598045|PMID:17696175 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:0112314 brain small vessel disease 2 ISO RGD:1316170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Porencephaly 2 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:10907 microcephaly ISO RGD:1316170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:1184 nephrotic syndrome ISO RGD:1316170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1281619 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1316170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16191423|PMID:18682491 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:14686 Axenfeld-Rieger syndrome ISO RGD:1316170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17696175|PMID:20385946 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:1826 epilepsy ISO RGD:1316170 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:1969 cerebral palsy ISO RGD:1316170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:2222 factor X deficiency ISO RGD:1316170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:557 kidney disease ISO RGD:1316171 D RGD:9068941 20220825 MouseDO 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:583 hemolytic anemia ISO RGD:1316170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23225343 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:5844 myocardial infarction susceptibility ISO RGD:1316170 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.Q1334H (human) PMID:18077766|REF_RGD_ID:2311341 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:630 genetic disease ISO RGD:1316170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10713126|PMID:10896941|PMID:12011424|PMID:12525718|PMID:15882279|PMID:15905400|PMID:16107487|PMID:16374828|PMID:16598045|PMID:17576681|PMID:17696175|PMID:17938367|PMID:18160688|PMID:19194877|PMID:19840616|PMID:19949034|PMID:21625620|PMID:2211826|PMID:22574627|PMID:22914737|PMID:23065703|PMID:23394911|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25741868|PMID:26220970|PMID:26467025|PMID:28492532|PMID:29801666|PMID:31051113|PMID:31230195|PMID:33353976|PMID:33527515|PMID:3691802|PMID:6428250|PMID:9536098|PMID:9724608 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:6432 pulmonary hypertension treatment ISO RGD:1307148 D RGD:9068941 20200609 RGD PMID:25867313|REF_RGD_ID:11041577 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:784 chronic kidney disease ISO RGD:1316170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:83 cataract ISO RGD:1316170 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:17696175|PMID:20301768|PMID:25741868 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:8725 vascular dementia ISO RGD:1316170 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:28492532|PMID:33268848|PMID:35307828 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1316170 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:9001585 Intraventricular Hemorrhage ISO RGD:1316170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intraventricular hemorrhage PMID:16598045|PMID:17078022|PMID:17938367|PMID:19344236|PMID:22102590|PMID:25741868|PMID:26362372|PMID:28492532|PMID:31857254|PMID:32033901|PMID:7695699|PMID:8218237|PMID:9016532 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1316170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:16199547|PMID:23225343|PMID:25741868|PMID:28492532 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:9002165 Diabetic Nephropathies ISO RGD:1316170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18682491|PMID:27997345 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:9002165 Diabetic Nephropathies ISO RGD:1316171 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17582205|REF_RGD_ID:2311342 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:9002165 Diabetic Nephropathies ISO RGD:1316171 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin Dependent;mRNA:increased expression:kidney PMID:19466391|REF_RGD_ID:2311340 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:9002417 Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant ISO RGD:1316170 D RGD:7240710 20191016 OMIM 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:9002417 Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant ISO RGD:1316170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DEMENTIA, HEREDITARY MULTI-INFARCT, SWEDISH TYPE | ClinVar Annotator: match by term: Microangiopathy and leukoencephalopathy, pontine, autosomal dominant PMID:15221337|PMID:17576681|PMID:22574627|PMID:22914737|PMID:23225343|PMID:24374867|PMID:24628545|PMID:25326635|PMID:25425218|PMID:25457163|PMID:25741868|PMID:26310487|PMID:26467025|PMID:27666438|PMID:28369186|PMID:28492532|PMID:30413629|PMID:30653986|PMID:31051113|PMID:31230195|PMID:31719132|PMID:33353976|PMID:33527515|PMID:3691802|PMID:906807|PMID:9536098|PMID:9724608 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1316170 D RGD:7240710 20230505 OMIM 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1316170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intracerebral hemorrhage | ClinVar Annotator: match by term: Stroke, hemorrhagic, susceptibility to PMID:16159887|PMID:17576681|PMID:21625620|PMID:22522439|PMID:22574627|PMID:22914737|PMID:23225343|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25741868|PMID:26310487|PMID:26467025|PMID:28492532|PMID:30413629|PMID:30653986|PMID:31051113|PMID:31230195|PMID:31719132|PMID:33353976|PMID:33527515|PMID:3691802|PMID:9536098|PMID:9724608 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:9002704 Leukoencephalopathies ISO RGD:1316170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20385946 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1316170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:9003104 Intracranial Hemorrhages ISO RGD:1316170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intracranial Hemorrhages PMID:16598045|PMID:17078022|PMID:17938367|PMID:19344236|PMID:22102590|PMID:25741868|PMID:26362372|PMID:28492532|PMID:31857254|PMID:32033901|PMID:7695699|PMID:8218237|PMID:9016532 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:9003443 Central Nervous System Vascular Malformations ISO RGD:1316170 D RGD:9068941 20200609 RGD DNA:snp:cds:p.G562E (human) PMID:16598045|REF_RGD_ID:1581204 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:9003443 Central Nervous System Vascular Malformations ISO RGD:1316171 D RGD:9068941 20200609 RGD PMID:16598045|REF_RGD_ID:1581204 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:9003529 Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps ISO RGD:1316170 D RGD:7240710 20180130 OMIM 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:9003529 Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps ISO RGD:1316170 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | ClinVar Annotator: match by term: HANAC-like syndrome PMID:16159887|PMID:17030722|PMID:17078022|PMID:17576681|PMID:18077766|PMID:18160688|PMID:1867713|PMID:19344236|PMID:19477666|PMID:20301768|PMID:20385946|PMID:20733150|PMID:20818663|PMID:21527998|PMID:21625620|PMID:22522439|PMID:22574627|PMID:22914737|PMID:23065703|PMID:23225343|PMID:24374867|PMID:24628545|PMID:25228067|PMID:25457163|PMID:25741868|PMID:26310487|PMID:26467025|PMID:27794444|PMID:28492532|PMID:29602769|PMID:30413629|PMID:30653986|PMID:31051113|PMID:31230195|PMID:31719132|PMID:31915071|PMID:31922066|PMID:33353976|PMID:33527515|PMID:33532864|PMID:3691802|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9536098|PMID:9724608 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:9006637 Schizencephaly ISO RGD:1316170 D RGD:8554872 20230117 ClinVar ClinVar Annotator: match by term: SCHIZENCEPHALY PMID:25741868|PMID:28492532 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:9007096 Stroke ISO RGD:1316170 D RGD:9068941 20200609 RGD PMID:16374828|REF_RGD_ID:1581205 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:9008296 Eye Abnormalities ISO RGD:1316170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20385946 11692580 COL4A1 collagen type IV alpha 1 chain gene DOID:9775 diastolic heart failure ISO RGD:1316170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 11692646 NUDT5 nudix hydrolase 5 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1345366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11692646 NUDT5 nudix hydrolase 5 gene DOID:630 genetic disease ISO RGD:1345366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11692660 TMEM126A transmembrane protein 126A gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1604272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 11692660 TMEM126A transmembrane protein 126A gene DOID:0111437 optic atrophy 7 ISO RGD:1604272 D RGD:7240710 20180130 OMIM 11692660 TMEM126A transmembrane protein 126A gene DOID:0111437 optic atrophy 7 ISO RGD:1604272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY | ClinVar Annotator: match by term: Optic atrophy 7 PMID:19327736|PMID:20405026|PMID:22815638|PMID:25741868|PMID:28492532|PMID:30369941 11692660 TMEM126A transmembrane protein 126A gene DOID:1059 intellectual disability ISO RGD:1604272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11692660 TMEM126A transmembrane protein 126A gene DOID:630 genetic disease ISO RGD:1604272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11692660 TMEM126A transmembrane protein 126A gene DOID:9005850 Hereditary Optic Atrophies ISO RGD:1604272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic Atrophy, Recessive 11692669 DPH7 diphthamide biosynthesis 7 gene DOID:0050777 Joubert syndrome ISO RGD:1312556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11692669 DPH7 diphthamide biosynthesis 7 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1312556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 11692669 DPH7 diphthamide biosynthesis 7 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1312556 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 11692669 DPH7 diphthamide biosynthesis 7 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1312556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11692669 DPH7 diphthamide biosynthesis 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1312556 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11692669 DPH7 diphthamide biosynthesis 7 gene DOID:0081097 Rafiq syndrome ISO RGD:1312556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11692669 DPH7 diphthamide biosynthesis 7 gene DOID:10283 prostate cancer ISO RGD:1312556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11692669 DPH7 diphthamide biosynthesis 7 gene DOID:1826 epilepsy ISO RGD:1312556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11692669 DPH7 diphthamide biosynthesis 7 gene DOID:630 genetic disease ISO RGD:1312556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11692669 DPH7 diphthamide biosynthesis 7 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1312556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11692686 TCAP titin-cap gene DOID:0050451 Brugada syndrome ISO RGD:1348921 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:23861362|PMID:24033266|PMID:24037902|PMID:25741868|PMID:26332198|PMID:26467025|PMID:28492532|PMID:30871747|PMID:31303467 11692686 TCAP titin-cap gene DOID:0050700 cardiomyopathy ISO RGD:1348921 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:16911908|PMID:18585512|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:22194935|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25741868|PMID:26332198|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27532257|PMID:28492532|PMID:29884292|PMID:30871747|PMID:31303467 11692686 TCAP titin-cap gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1348921 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10655062|PMID:15582318|PMID:16352453|PMID:16911908|PMID:17097056|PMID:18408010|PMID:18414213|PMID:18585512|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:21530252|PMID:21959314|PMID:22194935|PMID:23299917|PMID:23479141|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25055047|PMID:25298746|PMID:25351510|PMID:25741868|PMID:26084686|PMID:26332198|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27055092|PMID:27532257|PMID:28492532|PMID:28518168|PMID:28771489|PMID:29884292|PMID:30531895|PMID:30847666|PMID:30871747|PMID:31114860|PMID:31303467|PMID:31980526|PMID:31983221|PMID:32233023|PMID:32451364|PMID:32880476|PMID:35026164 11692686 TCAP titin-cap gene DOID:0110281 autosomal recessive limb-girdle muscular dystrophy type 2G ISO RGD:1348921 D RGD:7240710 20180130 OMIM 11692686 TCAP titin-cap gene DOID:0110281 autosomal recessive limb-girdle muscular dystrophy type 2G ISO RGD:1348921 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2G | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2G PMID:10655062|PMID:15582318|PMID:16352453|PMID:16911908|PMID:17097056|PMID:18414213|PMID:18585512|PMID:18948002|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:21530252|PMID:22194935|PMID:23299917|PMID:23479141|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25055047|PMID:25298746|PMID:25326637|PMID:25351510|PMID:25741868|PMID:26084686|PMID:26332198|PMID:26350513|PMID:26467025|PMID:27055092|PMID:27532257|PMID:27618135|PMID:28492532|PMID:28518168|PMID:28771489|PMID:29884292|PMID:29935994|PMID:30531895|PMID:30847666|PMID:30871747|PMID:31114860|PMID:31303467|PMID:31980526|PMID:31983221|PMID:32140910|PMID:32233023|PMID:32451364|PMID:32528171|PMID:32880476|PMID:35026164 11692686 TCAP titin-cap gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1348921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10655062|PMID:16911908|PMID:18414213|PMID:18585512|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:21530252|PMID:22194935|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25055047|PMID:25741868|PMID:26084686|PMID:26332198|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27532257|PMID:28166811|PMID:28492532|PMID:30871747|PMID:31303467 11692686 TCAP titin-cap gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1348921 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10655062|PMID:15582318|PMID:16911908|PMID:18408010|PMID:18414213|PMID:18585512|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:21530252|PMID:21959314|PMID:22194935|PMID:23299917|PMID:23479141|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25055047|PMID:25298746|PMID:25351510|PMID:25741868|PMID:26084686|PMID:26332198|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27532257|PMID:28492532|PMID:28518168|PMID:28771489|PMID:29884292|PMID:30531895|PMID:30847666|PMID:30871747|PMID:31303467|PMID:31983221|PMID:32233023|PMID:32451364 11692686 TCAP titin-cap gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1348921 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10655062|PMID:15582318|PMID:16352453|PMID:16911908|PMID:17097056|PMID:18408010|PMID:18414213|PMID:18585512|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:21530252|PMID:21959314|PMID:22194935|PMID:23299917|PMID:23479141|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25055047|PMID:25298746|PMID:25351510|PMID:25741868|PMID:26084686|PMID:26332198|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27055092|PMID:27532257|PMID:28492532|PMID:28518168|PMID:28771489|PMID:29884292|PMID:30531895|PMID:30847666|PMID:30871747|PMID:31114860|PMID:31303467|PMID:31980526|PMID:31983221|PMID:32233023|PMID:32451364|PMID:32880476|PMID:35026164 11692686 TCAP titin-cap gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:1348921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:12507422|PMID:15582318|PMID:28492532 11692686 TCAP titin-cap gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1348921 D RGD:7240710 20180130 OMIM 11692686 TCAP titin-cap gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1348921 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:10655062|PMID:12507422|PMID:15582318|PMID:16352453|PMID:16911908|PMID:17097056|PMID:17576681|PMID:18408010|PMID:18414213|PMID:18585512|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:21520333|PMID:21530252|PMID:21959314|PMID:22194935|PMID:23299917|PMID:23479141|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25055047|PMID:25298746|PMID:25741868|PMID:26084686|PMID:26332198|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27066551|PMID:27532257|PMID:27618135|PMID:28492532|PMID:29797799|PMID:30871747|PMID:31303467|PMID:31983221|PMID:32005491|PMID:32451364|PMID:32761539|PMID:32880476|PMID:9536098 11692686 TCAP titin-cap gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1348921 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:10655062|PMID:12507422|PMID:15582318|PMID:16352453|PMID:16911908|PMID:17097056|PMID:17576681|PMID:18408010|PMID:18414213|PMID:18585512|PMID:18948002|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:21530252|PMID:21959314|PMID:22194935|PMID:23299917|PMID:23479141|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25055047|PMID:25298746|PMID:25351510|PMID:25724973|PMID:25741868|PMID:26084686|PMID:26332198|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27055092|PMID:27066551|PMID:27532257|PMID:27618135|PMID:28492532|PMID:28518168|PMID:28771489|PMID:29797799|PMID:29884292|PMID:29935994|PMID:30531895|PMID:30564623|PMID:30847666|PMID:30871747|PMID:31114860|PMID:31303467|PMID:31308319|PMID:31980526|PMID:31983221|PMID:32005491|PMID:32140910|PMID:32233023|PMID:32451364|PMID:32528171|PMID:32565061|PMID:32588437|PMID:32761539|PMID:32880476|PMID:35026164|PMID:9536098 11692686 TCAP titin-cap gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1348921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase PMID:25741868 11692686 TCAP titin-cap gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1348921 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:16352453|PMID:17097056|PMID:19035361|PMID:20474083|PMID:22194935|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24037902|PMID:25741868|PMID:26084686|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27055092|PMID:27532257|PMID:28492532|PMID:30847666|PMID:31114860|PMID:31980526|PMID:32451364|PMID:32880476|PMID:35026164 11692686 TCAP titin-cap gene DOID:12930 dilated cardiomyopathy ISO RGD:1348921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10655062|PMID:23479141|PMID:25298746|PMID:25741868|PMID:27618135|PMID:28492532 11692686 TCAP titin-cap gene DOID:12930 dilated cardiomyopathy ISO RGD:1348921 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10655062|PMID:24037902|PMID:25298746|PMID:25741868|PMID:27618135|PMID:28492532 11692686 TCAP titin-cap gene DOID:12930 dilated cardiomyopathy ISO RGD:1348921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10655062|PMID:23479141|PMID:24037902|PMID:25298746|PMID:25741868|PMID:27618135|PMID:28492532 11692686 TCAP titin-cap gene DOID:2843 long QT syndrome ISO RGD:1348921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26636822|PMID:28492532 11692686 TCAP titin-cap gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1348921 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532|PMID:28771489|PMID:32233023 11692686 TCAP titin-cap gene DOID:630 genetic disease ISO RGD:1348921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11692686 TCAP titin-cap gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1348921 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|PMID:31983221 11692686 TCAP titin-cap gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1348921 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:23861362|PMID:24033266|PMID:24037902|PMID:25741868|PMID:26332198|PMID:26467025|PMID:28492532|PMID:30871747|PMID:31303467 11692686 TCAP titin-cap gene DOID:9005141 Ventricular Tachycardia ISO RGD:1348921 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28492532|PMID:31983221 11692692 USP26 ubiquitin specific peptidase 26 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11692692 USP26 ubiquitin specific peptidase 26 gene DOID:12849 autistic disorder ISO RGD:1354275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11692692 USP26 ubiquitin specific peptidase 26 gene DOID:630 genetic disease ISO RGD:1354275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11692692 USP26 ubiquitin specific peptidase 26 gene DOID:9005967 X-Linked Spermatogenic Failure 6 ISO RGD:1354275 D RGD:7240710 20230505 OMIM 11692692 USP26 ubiquitin specific peptidase 26 gene DOID:9005967 X-Linked Spermatogenic Failure 6 ISO RGD:1354275 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 6 PMID:34202084 11692697 IFTAP intraflagellar transport associated protein gene DOID:0080600 COVID-19 ISO RGD:1603277 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11692697 IFTAP intraflagellar transport associated protein gene DOID:0080915 histiocytic sarcoma ISO RGD:1603277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Histiocytic medullary reticulosis 11692697 IFTAP intraflagellar transport associated protein gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1603277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 11692697 IFTAP intraflagellar transport associated protein gene DOID:0112253 combined cellular and humoral immune defects with granulomas ISO RGD:1603277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas PMID:11133745|PMID:24290284|PMID:25739914|PMID:28492532|PMID:8810255 11692697 IFTAP intraflagellar transport associated protein gene DOID:1059 intellectual disability ISO RGD:1603277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11692726 HAUS2 HAUS augmin like complex subunit 2 gene DOID:2717 Bloom syndrome ISO RGD:1321425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11692726 HAUS2 HAUS augmin like complex subunit 2 gene DOID:630 genetic disease ISO RGD:1321425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11692726 HAUS2 HAUS augmin like complex subunit 2 gene DOID:9256 colorectal cancer ISO RGD:1321425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11692741 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1320554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | ClinVar Annotator: match by term: Congenital disorder of glycosylation type II PMID:12684507|PMID:20813212|PMID:25741868|PMID:28492532|PMID:33644825 11692741 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:0070253 congenital disorder of glycosylation type IIa ISO RGD:1320554 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome type II PMID:12684507|PMID:28492532 11692741 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1320554 D RGD:7240710 20180130 OMIM 11692741 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1320554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I | ClinVar Annotator: match by term: Congenital disorder of glycosylation type II PMID:12684507|PMID:20813212|PMID:25741868|PMID:28492532|PMID:33644825 11692741 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1320554 D RGD:7240710 20180130 OMIM 11692741 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1320554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 14 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:12684507|PMID:20813212|PMID:23404334|PMID:25741868|PMID:28492532 11692741 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:1059 intellectual disability ISO RGD:1320554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11692741 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:12712 nephronophthisis ISO RGD:1320554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 11692741 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1320554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:21358634|PMID:28492532 11692741 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:3635 congenital myasthenic syndrome ISO RGD:1320554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11692741 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1320554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 11692741 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:630 genetic disease ISO RGD:1320554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11692747 CLINT1 clathrin interactor 1 gene DOID:630 genetic disease ISO RGD:1602726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11692772 MBTPS2 membrane bound transcription factor peptidase, site 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11692772 MBTPS2 membrane bound transcription factor peptidase, site 2 gene DOID:0080754 X-linked keratosis follicularis spinulosa decalvans ISO RGD:1342985 D RGD:7240710 20180130 OMIM 11692772 MBTPS2 membrane bound transcription factor peptidase, site 2 gene DOID:0080754 X-linked keratosis follicularis spinulosa decalvans ISO RGD:1342985 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratosis follicularis spinulosa decalvans, X-linked PMID:20672378|PMID:23316014|PMID:25741868|PMID:8745901 11692772 MBTPS2 membrane bound transcription factor peptidase, site 2 gene DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 ISO RGD:1342985 D RGD:7240710 20180130 OMIM 11692772 MBTPS2 membrane bound transcription factor peptidase, site 2 gene DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 ISO RGD:1342985 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome PMID:10694306|PMID:19361614|PMID:21426410|PMID:22105905|PMID:24090718|PMID:24313295|PMID:25741868|PMID:28492532 11692772 MBTPS2 membrane bound transcription factor peptidase, site 2 gene DOID:0111847 osteogenesis imperfecta type 19 ISO RGD:1342985 D RGD:7240710 20190315 OMIM 11692772 MBTPS2 membrane bound transcription factor peptidase, site 2 gene DOID:0111847 osteogenesis imperfecta type 19 ISO RGD:1342985 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type 19 PMID:25741868|PMID:27380894 11692772 MBTPS2 membrane bound transcription factor peptidase, site 2 gene DOID:0112012 X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques ISO RGD:1342985 D RGD:7240710 20180130 OMIM 11692772 MBTPS2 membrane bound transcription factor peptidase, site 2 gene DOID:0112012 X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques ISO RGD:1342985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Olmsted syndrome, X-linked PMID:17367233|PMID:22931912|PMID:25741868 11692772 MBTPS2 membrane bound transcription factor peptidase, site 2 gene DOID:12347 osteogenesis imperfecta ISO RGD:1342985 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:28492532 11692772 MBTPS2 membrane bound transcription factor peptidase, site 2 gene DOID:12849 autistic disorder ISO RGD:1342985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11692772 MBTPS2 membrane bound transcription factor peptidase, site 2 gene DOID:630 genetic disease ISO RGD:1342985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11692772 MBTPS2 membrane bound transcription factor peptidase, site 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1342985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563831 11692772 MBTPS2 membrane bound transcription factor peptidase, site 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11692792 POMT2 protein O-mannosyltransferase 2 gene DOID:0050453 lissencephaly ISO RGD:1313480 D RGD:9068941 20200609 RGD DNA:missense mutation:exonp.G726R (c.2176G>A) (human) PMID:17559086|REF_RGD_ID:11065022 11692792 POMT2 protein O-mannosyltransferase 2 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1313480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy 11692792 POMT2 protein O-mannosyltransferase 2 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1313480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pagon syndrome PMID:17634419|PMID:17878207|PMID:17878297|PMID:19138766|PMID:19299310|PMID:24002165|PMID:25741868|PMID:27854218|PMID:28492532 11692792 POMT2 protein O-mannosyltransferase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1313480 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11692792 POMT2 protein O-mannosyltransferase 2 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1313480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:28492532 11692792 POMT2 protein O-mannosyltransferase 2 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1313480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:18414213|PMID:24183756|PMID:25741868|PMID:27457812|PMID:27854218|PMID:28492532|PMID:29175898|PMID:30060766|PMID:31127727|PMID:32528171|PMID:33200426|PMID:34413876 11692792 POMT2 protein O-mannosyltransferase 2 gene DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N ISO RGD:1313480 D RGD:7240710 20180130 OMIM 11692792 POMT2 protein O-mannosyltransferase 2 gene DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N ISO RGD:1313480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2N | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 14 PMID:17559086|PMID:17576681|PMID:17634419|PMID:17869517|PMID:17878207|PMID:17878297|PMID:17923109|PMID:18414213|PMID:18513969|PMID:18752264|PMID:19138766|PMID:19299310|PMID:24002165|PMID:24033266|PMID:25214167|PMID:25741868|PMID:26467025|PMID:27447704|PMID:27457812|PMID:27854218|PMID:28492532|PMID:29175898|PMID:29382405|PMID:30060766|PMID:31127727|PMID:32404165|PMID:32528171|PMID:33176815|PMID:33200426|PMID:34413876|PMID:9536098 11692792 POMT2 protein O-mannosyltransferase 2 gene DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ISO RGD:1313480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:17559086|PMID:17634419|PMID:17878207|PMID:17878297|PMID:19138766|PMID:19299310|PMID:24002165|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532 11692792 POMT2 protein O-mannosyltransferase 2 gene DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ISO RGD:1313480 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:15894594|PMID:17559086|PMID:17634419|PMID:17878207|PMID:17878297|PMID:19138766|PMID:19299310|PMID:24002165|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532|PMID:29175898|PMID:29382405|PMID:30060766|PMID:30091983|PMID:31127727|PMID:32494558|PMID:32528171|PMID:33200426|PMID:34413876 11692792 POMT2 protein O-mannosyltransferase 2 gene DOID:0111240 congenital muscular dystrophy-dystroglycanopathy type A2 ISO RGD:1313480 D RGD:7240710 20180130 OMIM 11692792 POMT2 protein O-mannosyltransferase 2 gene DOID:0111240 congenital muscular dystrophy-dystroglycanopathy type A2 ISO RGD:1313480 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 PMID:15894594|PMID:16199547|PMID:16701995|PMID:17559086|PMID:17576681|PMID:17634419|PMID:17869517|PMID:17878207|PMID:17878297|PMID:17923109|PMID:18414213|PMID:18513969|PMID:18752264|PMID:19138766|PMID:19299310|PMID:22323514|PMID:22700954|PMID:22958903|PMID:24002165|PMID:24033266|PMID:25214167|PMID:25267602|PMID:25741868|PMID:26467025|PMID:26495167|PMID:27447704|PMID:27854218|PMID:27894351|PMID:28492532|PMID:28688748|PMID:28973083|PMID:28980384|PMID:29175898|PMID:29382405|PMID:30060766|PMID:30091983|PMID:31127727|PMID:32494558|PMID:32528171|PMID:33176815|PMID:33200426|PMID:34413876|PMID:35628876|PMID:9536098 11692792 POMT2 protein O-mannosyltransferase 2 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1313480 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase 11692792 POMT2 protein O-mannosyltransferase 2 gene DOID:0112380 muscular dystrophy-dystroglycanopathy type B2 ISO RGD:1313480 D RGD:7240710 20180130 OMIM 11692792 POMT2 protein O-mannosyltransferase 2 gene DOID:0112380 muscular dystrophy-dystroglycanopathy type B2 ISO RGD:1313480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT2-RELATED PMID:16701995|PMID:17634419|PMID:17869517|PMID:17878207|PMID:17878297|PMID:18513969|PMID:19138766|PMID:19299310|PMID:24002165|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532 11692792 POMT2 protein O-mannosyltransferase 2 gene DOID:1059 intellectual disability ISO RGD:1313480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17878207|PMID:17923109|PMID:25214167|PMID:25741868|PMID:27447704|PMID:28492532|PMID:28973083|PMID:30060766|PMID:32528171|PMID:33176815|PMID:34413876 11692792 POMT2 protein O-mannosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1313480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28815891 11692792 POMT2 protein O-mannosyltransferase 2 gene DOID:9884 muscular dystrophy ISO RGD:1313480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:17634419|PMID:17878207|PMID:17878297|PMID:19138766|PMID:19299310|PMID:24002165|PMID:25741868|PMID:27854218|PMID:28492532 11692826 DCST1 DC-STAMP domain containing 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11692826 DCST1 DC-STAMP domain containing 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1602181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11692826 DCST1 DC-STAMP domain containing 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1602181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11692826 DCST1 DC-STAMP domain containing 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1602181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11692826 DCST1 DC-STAMP domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1602181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11692826 DCST1 DC-STAMP domain containing 1 gene DOID:5812 MHC class II deficiency ISO RGD:1602181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11692826 DCST1 DC-STAMP domain containing 1 gene DOID:630 genetic disease ISO RGD:1602181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11692826 DCST1 DC-STAMP domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11692851 PTGER3 prostaglandin E receptor 3 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:731378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21966456 11692851 PTGER3 prostaglandin E receptor 3 gene DOID:0060001 withdrawal disorder treatment ISO RGD:3435 D RGD:9068941 20200609 RGD PMID:10708732|REF_RGD_ID:10043351 11692851 PTGER3 prostaglandin E receptor 3 gene DOID:0060500 drug allergy ISO RGD:731378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20587336 11692851 PTGER3 prostaglandin E receptor 3 gene DOID:0060903 thrombosis ISO RGD:731378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17242161 11692851 PTGER3 prostaglandin E receptor 3 gene DOID:1059 intellectual disability ISO RGD:731378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11692851 PTGER3 prostaglandin E receptor 3 gene DOID:10976 membranous glomerulonephritis ISO RGD:3435 D RGD:9068941 20200609 RGD mRNA:increased expression:renal cortex (rat) PMID:14636300|REF_RGD_ID:10043359 11692851 PTGER3 prostaglandin E receptor 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:731378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11692851 PTGER3 prostaglandin E receptor 3 gene DOID:11656 cicatricial pemphigoid ISO RGD:731378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21966456 11692851 PTGER3 prostaglandin E receptor 3 gene DOID:127 leiomyoma ISO RGD:731378 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine myometrium (human) PMID:17407572|REF_RGD_ID:10043352 11692851 PTGER3 prostaglandin E receptor 3 gene DOID:1591 renovascular hypertension ISO RGD:3435 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:16788145|REF_RGD_ID:1642130 11692851 PTGER3 prostaglandin E receptor 3 gene DOID:219 colon cancer ISO RGD:3435 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon mucosa (rat) PMID:15247185|REF_RGD_ID:9850265 11692851 PTGER3 prostaglandin E receptor 3 gene DOID:2841 asthma treatment ISO RGD:3435 D RGD:9068941 20200609 RGD PMID:23221044|REF_RGD_ID:10043366 11692851 PTGER3 prostaglandin E receptor 3 gene DOID:630 genetic disease ISO RGD:731378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11692851 PTGER3 prostaglandin E receptor 3 gene DOID:9000197 Edema treatment ISO RGD:3435 D RGD:9068941 20200609 RGD PMID:8138964|REF_RGD_ID:10043358 11692851 PTGER3 prostaglandin E receptor 3 gene DOID:9000972 Fever ISO RGD:731379 D RGD:9068941 20200609 RGD PMID:9751056|REF_RGD_ID:737727 11692851 PTGER3 prostaglandin E receptor 3 gene DOID:9000998 Brain Injuries ISO RGD:3435 D RGD:9068941 20200609 RGD protein:increased expression:striatum, microglia (rat) PMID:15234107|REF_RGD_ID:9850280 11692851 PTGER3 prostaglandin E receptor 3 gene DOID:9002211 Hyperalgesia ISO RGD:3435 D RGD:9068941 20200609 RGD protein:increased expression:lumbar spinal cord dorsal horn (rat) PMID:17413918|REF_RGD_ID:5688169 11692851 PTGER3 prostaglandin E receptor 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3435 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:placenta (rat) PMID:15990166|REF_RGD_ID:10043194 11692851 PTGER3 prostaglandin E receptor 3 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:3435 D RGD:9068941 20200609 RGD protein:increased expression:retina (rat) PMID:12821538|REF_RGD_ID:9850261 11692851 PTGER3 prostaglandin E receptor 3 gene DOID:9002928 Colonic Neoplasms severity ISO RGD:731379 D RGD:9068941 20200609 RGD PMID:15247185|REF_RGD_ID:9850265 11692851 PTGER3 prostaglandin E receptor 3 gene DOID:9006937 NSAID-Enteropathy treatment ISO RGD:3435 D RGD:9068941 20200609 RGD PMID:11991626|REF_RGD_ID:10003093 11692851 PTGER3 prostaglandin E receptor 3 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:3435 D RGD:9068941 20200609 RGD PMID:10193764|REF_RGD_ID:10043342 11692893 KNG1 kininogen 1 gene DOID:0060575 3MC syndrome 1 ISO RGD:1603713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 11692893 KNG1 kininogen 1 gene DOID:0060903 thrombosis ISO RGD:1603713 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thrombus PMID:25741868 11692893 KNG1 kininogen 1 gene DOID:0080941 acquired angioedema ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9734886 11692893 KNG1 kininogen 1 gene DOID:0111676 high molecular weight kininogen deficiency ISO RGD:1603713 D RGD:7240710 20180130 OMIM 11692893 KNG1 kininogen 1 gene DOID:0111676 high molecular weight kininogen deficiency ISO RGD:1603713 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: High molecular weight kininogen deficiency | ClinVar Annotator: match by term: Kininogen deficiency, total PMID:1202089|PMID:12576314|PMID:17522339|PMID:1968772|PMID:25741868|PMID:32202057|PMID:7901207 11692893 KNG1 kininogen 1 gene DOID:10763 hypertension ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7027322 11692893 KNG1 kininogen 1 gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:1603713 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:26098644|REF_RGD_ID:11059888 11692893 KNG1 kininogen 1 gene DOID:1205 allergic disease ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11160071 11692893 KNG1 kininogen 1 gene DOID:14735 hereditary angioedema ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9734886 11692893 KNG1 kininogen 1 gene DOID:3021 acute kidney failure ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3015452|PMID:513486 11692893 KNG1 kininogen 1 gene DOID:4404 occupational dermatitis ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30685357 11692893 KNG1 kininogen 1 gene DOID:630 genetic disease ISO RGD:1603713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11692893 KNG1 kininogen 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2535056 11692893 KNG1 kininogen 1 gene DOID:9000197 Edema ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9719496 11692893 KNG1 kininogen 1 gene DOID:9000197 Edema treatment ISO RGD:2980 D RGD:9068941 20200609 RGD PMID:20860667|REF_RGD_ID:10450565 11692893 KNG1 kininogen 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22248470 11692893 KNG1 kininogen 1 gene DOID:9000641 Pain ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10445233|PMID:10543429|PMID:1281941|PMID:16076651|PMID:20018876|PMID:29655911|PMID:3951883 11692893 KNG1 kininogen 1 gene DOID:9001039 Leukocytosis ISO RGD:2980 D RGD:9068941 20200609 RGD PMID:5116037|REF_RGD_ID:11059893 11692893 KNG1 kininogen 1 gene DOID:9001371 Eosinophilia ISO RGD:2980 D RGD:9068941 20200609 RGD PMID:1937926|REF_RGD_ID:11059896 11692893 KNG1 kininogen 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18054572 11692893 KNG1 kininogen 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1603713 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism: :7965C>T (human) PMID:17065357|REF_RGD_ID:2311541 11692893 KNG1 kininogen 1 gene DOID:9002211 Hyperalgesia ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10401557|PMID:10499367|PMID:10543429|PMID:15626726|PMID:16259764|PMID:16793879|PMID:18234883|PMID:2010815|PMID:2128375|PMID:21521205|PMID:3061568|PMID:7493622|PMID:7582491|PMID:7881729|PMID:9714424|PMID:9720808 11692893 KNG1 kininogen 1 gene DOID:9002211 Hyperalgesia ISO RGD:2980 D RGD:9068941 20200609 RGD PMID:20868656|REF_RGD_ID:11059894 11692893 KNG1 kininogen 1 gene DOID:9002291 Hereditary Angioedema 6 ISO RGD:1603713 D RGD:7240710 20210616 OMIM 11692893 KNG1 kininogen 1 gene DOID:9002291 Hereditary Angioedema 6 ISO RGD:1603713 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angioedema, hereditary, 6 PMID:25741868|PMID:31087670|PMID:33114181 11692893 KNG1 kininogen 1 gene DOID:9002457 Experimental Arthritis ISO RGD:2980 D RGD:9068941 20200609 RGD PMID:1996642|REF_RGD_ID:11059895 11692893 KNG1 kininogen 1 gene DOID:9002457 Experimental Arthritis ISO RGD:2980 D RGD:9068941 20200609 RGD peptidoglycan-polysaccharide-induced arthritis in Lewis rats PMID:9214434|REF_RGD_ID:1600547 11692893 KNG1 kininogen 1 gene DOID:9002554 Tachycardia ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7027322 11692893 KNG1 kininogen 1 gene DOID:9003505 Venous Thromboembolism ISO RGD:1603713 D RGD:9068941 20200609 RGD DNA:SNP: :rs710446 (human) PMID:25472531|REF_RGD_ID:11059890 11692893 KNG1 kininogen 1 gene DOID:9005236 Drug Eruptions ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1371395|PMID:3034372 11692893 KNG1 kininogen 1 gene DOID:9006024 Hypotension ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10805402|PMID:1334354|PMID:14744816|PMID:16321614|PMID:18084312|PMID:21420289|PMID:2404862|PMID:6675575|PMID:9249246 11692893 KNG1 kininogen 1 gene DOID:9006205 Animal Disease Models ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30685357 11692893 KNG1 kininogen 1 gene DOID:9007001 Bradycardia ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1281941 11692893 KNG1 kininogen 1 gene DOID:9007073 Cough ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22693178 11692893 KNG1 kininogen 1 gene DOID:9007096 Stroke susceptibility ISO RGD:1603713 D RGD:9068941 20200609 RGD DNA:SNP: :rs710446(human) PMID:26159646|REF_RGD_ID:10411883 11692893 KNG1 kininogen 1 gene DOID:9007251 Hyperesthesia ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8190269 11692893 KNG1 kininogen 1 gene DOID:9007278 Anaphylaxis ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7623993 11692893 KNG1 kininogen 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20362651|PMID:30685357 11692893 KNG1 kininogen 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2535056|PMID:7856280 11692893 KNG1 kininogen 1 gene DOID:9007925 Sudden Cardiac Death susceptibility ISO RGD:1603713 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:19716087|REF_RGD_ID:10411885 11692893 KNG1 kininogen 1 gene DOID:9008511 Extravasation of Diagnostic and Therapeutic Materials ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9622145 11692893 KNG1 kininogen 1 gene DOID:9009039 Hyperemia ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11837250 11692893 KNG1 kininogen 1 gene DOID:9719 neovascular inflammatory vitreoretinopathy severity ISO RGD:1603713 D RGD:9068941 20200609 RGD protein:increased expression:vitreous,serum: PMID:23808406|REF_RGD_ID:10411880 11692953 ZNF776 zinc finger protein 776 gene DOID:10283 prostate cancer ISO RGD:1602053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11692953 ZNF776 zinc finger protein 776 gene DOID:630 genetic disease ISO RGD:1602053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11692981 LOC103786998 keratin-associated protein 10-3 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1605517 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 11692981 LOC103786998 keratin-associated protein 10-3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1605517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11692981 LOC103786998 keratin-associated protein 10-3 gene DOID:0110266 cataract 9 multiple types ISO RGD:1605517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11692981 LOC103786998 keratin-associated protein 10-3 gene DOID:0110540 autosomal recessive nonsyndromic deafness 98 ISO RGD:1605517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 98 PMID:25741868 11692981 LOC103786998 keratin-associated protein 10-3 gene DOID:12849 autistic disorder ISO RGD:1605517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11692981 LOC103786998 keratin-associated protein 10-3 gene DOID:3007 breast ductal carcinoma ISO RGD:1605517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 11692981 LOC103786998 keratin-associated protein 10-3 gene DOID:630 genetic disease ISO RGD:1605517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11692981 LOC103786998 keratin-associated protein 10-3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1605517 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11692981 LOC103786998 keratin-associated protein 10-3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11692981 LOC103786998 keratin-associated protein 10-3 gene DOID:9263 homocystinuria ISO RGD:1605517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11692981 LOC103786998 keratin-associated protein 10-3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11693021 CDC42EP1 CDC42 effector protein 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1322427 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11693021 CDC42EP1 CDC42 effector protein 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1322427 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11693021 CDC42EP1 CDC42 effector protein 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1322427 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11693021 CDC42EP1 CDC42 effector protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1322427 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11693021 CDC42EP1 CDC42 effector protein 1 gene DOID:630 genetic disease ISO RGD:1322427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11693040 TCEAL2 transcription elongation factor A like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11693040 TCEAL2 transcription elongation factor A like 2 gene DOID:12849 autistic disorder ISO RGD:1342883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11693040 TCEAL2 transcription elongation factor A like 2 gene DOID:630 genetic disease ISO RGD:1342883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11693047 GJB6 gap junction protein beta 6 gene DOID:0050563 nonsyndromic deafness ISO RGD:1349249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:11807148|PMID:12917317|PMID:14571368|PMID:14681039|PMID:15994881|PMID:19047647|PMID:22098503|PMID:23303923|PMID:24158611|PMID:25741868|PMID:28823936|PMID:30311386 11693047 GJB6 gap junction protein beta 6 gene DOID:0110253 cataract 14 multiple types ISO RGD:1349249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types PMID:28492532 11693047 GJB6 gap junction protein beta 6 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1349249 D RGD:7240710 20180130 OMIM 11693047 GJB6 gap junction protein beta 6 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1349249 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 PMID:10610709|PMID:11017065|PMID:11807148|PMID:11896458|PMID:12172394|PMID:12419304|PMID:12788524|PMID:12885339|PMID:14571368|PMID:14708603|PMID:15213106|PMID:15638823|PMID:15769851|PMID:15994881|PMID:16547895|PMID:16950989|PMID:17041943|PMID:17259707|PMID:17666888|PMID:18324688|PMID:19723508|PMID:20536673|PMID:21731760|PMID:22106692|PMID:22617145|PMID:23219093|PMID:23757202|PMID:23863883|PMID:23926005|PMID:23981984|PMID:24033266|PMID:24514865|PMID:24522190|PMID:24685692|PMID:25214170|PMID:25262649|PMID:25741868|PMID:26551294|PMID:27137747|PMID:27480936|PMID:27817781|PMID:28492532|PMID:29771057|PMID:31589614 11693047 GJB6 gap junction protein beta 6 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1349249 D RGD:7240710 20180130 OMIM 11693047 GJB6 gap junction protein beta 6 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1349249 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:10610709|PMID:11017065|PMID:11807148|PMID:11896458|PMID:12172394|PMID:12419304|PMID:12788524|PMID:12885339|PMID:14571368|PMID:14708603|PMID:15213106|PMID:15638823|PMID:15769851|PMID:15994881|PMID:16547895|PMID:16950989|PMID:17041943|PMID:17259707|PMID:17666888|PMID:18324688|PMID:19723508|PMID:20536673|PMID:21731760|PMID:22106692|PMID:22617145|PMID:23219093|PMID:23757202|PMID:23863883|PMID:23926005|PMID:23981984|PMID:24033266|PMID:24514865|PMID:24522190|PMID:24685692|PMID:25214170|PMID:25262649|PMID:25741868|PMID:26551294|PMID:27137747|PMID:27480936|PMID:27817781|PMID:28492532|PMID:29771057|PMID:31589614 11693047 GJB6 gap junction protein beta 6 gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:1349249 D RGD:7240710 20180130 OMIM 11693047 GJB6 gap junction protein beta 6 gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:1349249 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:10471490|PMID:10610709|PMID:11017065|PMID:11807148|PMID:11896458|PMID:12419304|PMID:12788524|PMID:14708603|PMID:15213106|PMID:15769851|PMID:16547895|PMID:16950989|PMID:17259707|PMID:17666888|PMID:19723508|PMID:20536673|PMID:20858605|PMID:21731760|PMID:22106692|PMID:22617145|PMID:23219093|PMID:23757202|PMID:23863883|PMID:23926005|PMID:23981984|PMID:24033266|PMID:24514865|PMID:24522190|PMID:24685692|PMID:25214170|PMID:25262649|PMID:25741868|PMID:26551294|PMID:27137747|PMID:27480936|PMID:27817781|PMID:28492532|PMID:29771057|PMID:31589614 11693047 GJB6 gap junction protein beta 6 gene DOID:0111737 X-linked deafness 2 ISO RGD:1349249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear PMID:11017065|PMID:12419304|PMID:12788524|PMID:14708603|PMID:15213106|PMID:15769851|PMID:20536673|PMID:22106692|PMID:23219093|PMID:23863883|PMID:23926005|PMID:23981984|PMID:24033266|PMID:24514865|PMID:24522190|PMID:24685692|PMID:25741868|PMID:26551294|PMID:27137747|PMID:27817781|PMID:28492532 11693047 GJB6 gap junction protein beta 6 gene DOID:11832 visual epilepsy ISO RGD:621830 D RGD:9068941 20200609 RGD PMID:23149765|REF_RGD_ID:7364770 11693047 GJB6 gap junction protein beta 6 gene DOID:14693 Clouston syndrome ISO RGD:1349249 D RGD:7240710 20191127 OMIM 11693047 GJB6 gap junction protein beta 6 gene DOID:14693 Clouston syndrome ISO RGD:1349249 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia syndrome PMID:10610709|PMID:11017065|PMID:11807148|PMID:11874494|PMID:11896458|PMID:12419304|PMID:12788524|PMID:14708603|PMID:15213106|PMID:15769851|PMID:16547895|PMID:16950989|PMID:17259707|PMID:17666888|PMID:19723508|PMID:20536673|PMID:21731760|PMID:22106692|PMID:22617145|PMID:23219093|PMID:23757202|PMID:23863883|PMID:23926005|PMID:23981984|PMID:24033266|PMID:24514865|PMID:24522190|PMID:24685692|PMID:25214170|PMID:25262649|PMID:25741868|PMID:26551294|PMID:27137747|PMID:27480936|PMID:27817781|PMID:28492532|PMID:29771057|PMID:31589614 11693047 GJB6 gap junction protein beta 6 gene DOID:1824 status epilepticus ISO RGD:621830 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:12359154|REF_RGD_ID:632751 11693047 GJB6 gap junction protein beta 6 gene DOID:2121 ectodermal dysplasia ISO RGD:1349249 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hidrotic Ectodermal Dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:10610709|PMID:11017065|PMID:11807148|PMID:11896458|PMID:12419304|PMID:12788524|PMID:15213106|PMID:15769851|PMID:16950989|PMID:17259707|PMID:19723508|PMID:20536673|PMID:21731760|PMID:22106692|PMID:22617145|PMID:23219093|PMID:23757202|PMID:23926005|PMID:23981984|PMID:24033266|PMID:24514865|PMID:25214170|PMID:25262649|PMID:25741868|PMID:26551294|PMID:27817781|PMID:28492532 11693047 GJB6 gap junction protein beta 6 gene DOID:2121 ectodermal dysplasia ISO RGD:1349249 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hidrotic Ectodermal Dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Dominant | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Recessive PMID:10610709|PMID:11017065|PMID:11807148|PMID:11896458|PMID:12419304|PMID:12788524|PMID:15213106|PMID:15769851|PMID:16950989|PMID:17259707|PMID:19723508|PMID:20536673|PMID:21731760|PMID:22106692|PMID:22617145|PMID:23219093|PMID:23757202|PMID:23926005|PMID:23981984|PMID:24033266|PMID:24514865|PMID:25214170|PMID:25262649|PMID:25741868|PMID:26551294|PMID:27817781|PMID:28492532|PMID:31589614 11693047 GJB6 gap junction protein beta 6 gene DOID:2121 ectodermal dysplasia ISO RGD:1349249 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hidrotic Ectodermal Dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:10610709|PMID:11017065|PMID:11807148|PMID:11896458|PMID:12419304|PMID:12788524|PMID:14708603|PMID:15213106|PMID:15769851|PMID:16547895|PMID:16950989|PMID:17259707|PMID:17666888|PMID:19723508|PMID:20536673|PMID:21731760|PMID:22106692|PMID:22617145|PMID:23219093|PMID:23757202|PMID:23863883|PMID:23926005|PMID:23981984|PMID:24033266|PMID:24514865|PMID:24522190|PMID:24685692|PMID:25214170|PMID:25262649|PMID:25741868|PMID:26551294|PMID:27137747|PMID:27480936|PMID:27817781|PMID:28492532|PMID:29771057|PMID:31589614 11693047 GJB6 gap junction protein beta 6 gene DOID:224 transient cerebral ischemia ISO RGD:621830 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus: PMID:21718970|REF_RGD_ID:6480433 11693047 GJB6 gap junction protein beta 6 gene DOID:5154 borna disease ISO RGD:621830 D RGD:9068941 20200609 RGD PMID:18538309|REF_RGD_ID:7364785 11693047 GJB6 gap junction protein beta 6 gene DOID:5199 ureteral obstruction ISO RGD:621830 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney: PMID:12644912|REF_RGD_ID:7207847 11693047 GJB6 gap junction protein beta 6 gene DOID:630 genetic disease ISO RGD:1349249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18717672|PMID:28492532 11693047 GJB6 gap junction protein beta 6 gene DOID:9004538 Hearing Loss ISO RGD:1349249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 11693047 GJB6 gap junction protein beta 6 gene DOID:9004756 Brain Hypoxia ISO RGD:621830 D RGD:9068941 20200609 RGD PMID:20034754|REF_RGD_ID:7364784 11693047 GJB6 gap junction protein beta 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621830 D RGD:9068941 20200609 RGD PMID:21567444|REF_RGD_ID:7364783 11693047 GJB6 gap junction protein beta 6 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1349249 D RGD:9068941 20200609 RGD DNA:del::GJB6-D13S1854(human) PMID:23668481|REF_RGD_ID:7364817 11693047 GJB6 gap junction protein beta 6 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1349249 D RGD:9068941 20200609 RGD DNA:del:cds:del(GJB6-D13S1830) PMID:20022641|REF_RGD_ID:7364812 11693047 GJB6 gap junction protein beta 6 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1349249 D RGD:9068941 20200609 RGD DNA:mutations:multiple: PMID:23554706|REF_RGD_ID:7364803 11693047 GJB6 gap junction protein beta 6 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss no_association ISO RGD:1349249 D RGD:9068941 20200609 RGD PMID:21227513|PMID:22186156|REF_RGD_ID:7364891|REF_RGD_ID:7364892 11693070 CCDC178 coiled-coil domain containing 178 gene DOID:1059 intellectual disability ISO RGD:1317773 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11693070 CCDC178 coiled-coil domain containing 178 gene DOID:630 genetic disease ISO RGD:1317773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11693098 RPL13 ribosomal protein L13 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:732066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 11693098 RPL13 ribosomal protein L13 gene DOID:0080027 spondyloepimetaphyseal dysplasia ISO RGD:732066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia PMID:23956136|PMID:25741868|PMID:31630789 11693098 RPL13 ribosomal protein L13 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:732066 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11693098 RPL13 ribosomal protein L13 gene DOID:13636 Fanconi anemia ISO RGD:732066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 11693098 RPL13 ribosomal protein L13 gene DOID:14780 KBG syndrome ISO RGD:732066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 11693098 RPL13 ribosomal protein L13 gene DOID:630 genetic disease ISO RGD:732066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11693098 RPL13 ribosomal protein L13 gene DOID:9000217 Stomach Neoplasms ISO RGD:732066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11693098 RPL13 ribosomal protein L13 gene DOID:9000918 Disease Progression ISO RGD:732066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11693098 RPL13 ribosomal protein L13 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:732066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 11693098 RPL13 ribosomal protein L13 gene DOID:9006652 Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type ISO RGD:732066 D RGD:7240710 20200226 OMIM 11693098 RPL13 ribosomal protein L13 gene DOID:9006652 Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type ISO RGD:732066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Isidor-Toutain type PMID:23956136|PMID:25741868|PMID:28492532|PMID:31630789 11693106 ADCY9 adenylate cyclase 9 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1312370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11693106 ADCY9 adenylate cyclase 9 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1312370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 11693106 ADCY9 adenylate cyclase 9 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1312370 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868 11693106 ADCY9 adenylate cyclase 9 gene DOID:1682 congenital heart disease ISO RGD:1312370 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 11693106 ADCY9 adenylate cyclase 9 gene DOID:1826 epilepsy ISO RGD:1312370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11693106 ADCY9 adenylate cyclase 9 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1312370 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11693106 ADCY9 adenylate cyclase 9 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1312370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 PMID:12114483|PMID:15706485|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 11693106 ADCY9 adenylate cyclase 9 gene DOID:3324 mood disorder no_association ISO RGD:1312370 D RGD:9068941 20200609 RGD DNA:polymorphisms:repeat,cds: PMID:11840511|REF_RGD_ID:1358365 11693106 ADCY9 adenylate cyclase 9 gene DOID:630 genetic disease ISO RGD:1312370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11693106 ADCY9 adenylate cyclase 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11693127 SLC35F3 solute carrier family 35 member F3 gene DOID:1540 parathyroid carcinoma ISO RGD:1347980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11693127 SLC35F3 solute carrier family 35 member F3 gene DOID:630 genetic disease ISO RGD:1347980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11693127 SLC35F3 solute carrier family 35 member F3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11693144 TRIB2 tribbles pseudokinase 2 gene DOID:5419 schizophrenia ISO RGD:1351441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11693144 TRIB2 tribbles pseudokinase 2 gene DOID:630 genetic disease ISO RGD:1351441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11693158 LRATD2 LRAT domain containing 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1606136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11693158 LRATD2 LRAT domain containing 2 gene DOID:630 genetic disease ISO RGD:1606136 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11693168 DNAL1 dynein axonemal light chain 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1320134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:21496787 11693168 DNAL1 dynein axonemal light chain 1 gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1320134 D RGD:7240710 20180130 OMIM 11693168 DNAL1 dynein axonemal light chain 1 gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1320134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:17576681|PMID:21496787|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 11693168 DNAL1 dynein axonemal light chain 1 gene DOID:1059 intellectual disability ISO RGD:1320134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11693168 DNAL1 dynein axonemal light chain 1 gene DOID:630 genetic disease ISO RGD:1320134 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11693168 DNAL1 dynein axonemal light chain 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320134 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:21496787|PMID:24033266|PMID:28492532 11693187 CSTPP1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1604290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11693187 CSTPP1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1604290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 11693187 CSTPP1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 gene DOID:1059 intellectual disability ISO RGD:1604290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11693187 CSTPP1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1604290 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 11693205 CD52 CD52 molecule gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1348187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 11693205 CD52 CD52 molecule gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1348187 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 11693205 CD52 CD52 molecule gene DOID:630 genetic disease ISO RGD:1348187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11693211 DYNC2I1 dynein 2 intermediate chain 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1605671 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868|PMID:28492532|PMID:29068549 11693211 DYNC2I1 dynein 2 intermediate chain 1 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1605671 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 PMID:25741868|PMID:28492532|PMID:29068549 11693211 DYNC2I1 dynein 2 intermediate chain 1 gene DOID:0110094 short-rib thoracic dysplasia 8 with or without polydactyly ISO RGD:1605671 D RGD:7240710 20180130 OMIM 11693211 DYNC2I1 dynein 2 intermediate chain 1 gene DOID:0110094 short-rib thoracic dysplasia 8 with or without polydactyly ISO RGD:1605671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 8 with or without polydactyly PMID:17576681|PMID:23910462|PMID:24033266|PMID:25492405|PMID:25640679|PMID:25741868|PMID:28422394|PMID:28492532|PMID:29068549|PMID:30320547|PMID:9068549|PMID:9536098 11693211 DYNC2I1 dynein 2 intermediate chain 1 gene DOID:12849 autistic disorder ISO RGD:1605671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11693211 DYNC2I1 dynein 2 intermediate chain 1 gene DOID:5419 schizophrenia ISO RGD:1605671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11693211 DYNC2I1 dynein 2 intermediate chain 1 gene DOID:630 genetic disease ISO RGD:1605671 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11693260 TBX15 T-box transcription factor 15 gene DOID:0050722 PHGDH deficiency ISO RGD:1317666 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:14645240|PMID:24836451|PMID:28492532 11693260 TBX15 T-box transcription factor 15 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:1317666 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 11693260 TBX15 T-box transcription factor 15 gene DOID:630 genetic disease ISO RGD:1317666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11693260 TBX15 T-box transcription factor 15 gene DOID:9004239 Cousin Syndrome ISO RGD:1317666 D RGD:7240710 20180130 OMIM 11693260 TBX15 T-box transcription factor 15 gene DOID:9004239 Cousin Syndrome ISO RGD:1317666 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pelviscapular dysplasia PMID:19068278|PMID:25741868|PMID:28492532 11693260 TBX15 T-box transcription factor 15 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1317666 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 11693260 TBX15 T-box transcription factor 15 gene DOID:9006257 Growth Disorders ISO RGD:1317666 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19068278 11693260 TBX15 T-box transcription factor 15 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1317666 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19068278 11693277 UBQLN3 ubiquilin 3 gene DOID:630 genetic disease ISO RGD:1312638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11693284 ACSM5 acyl-CoA synthetase medium chain family member 5 gene DOID:630 genetic disease ISO RGD:1603027 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11693334 AATF apoptosis antagonizing transcription factor gene DOID:0060041 autism spectrum disorder ISO RGD:734398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 11693334 AATF apoptosis antagonizing transcription factor gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:734398 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 11693334 AATF apoptosis antagonizing transcription factor gene DOID:12849 autistic disorder ISO RGD:734398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11693334 AATF apoptosis antagonizing transcription factor gene DOID:5419 schizophrenia ISO RGD:734398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11693334 AATF apoptosis antagonizing transcription factor gene DOID:630 genetic disease ISO RGD:734398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11693334 AATF apoptosis antagonizing transcription factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11693334 AATF apoptosis antagonizing transcription factor gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:734398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 11693350 CNBD1 cyclic nucleotide binding domain containing 1 gene DOID:630 genetic disease ISO RGD:1603547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11693366 GRIN2C glutamate ionotropic receptor NMDA type subunit 2C gene DOID:630 genetic disease ISO RGD:736076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11693396 ZFP42 ZFP42 zinc finger protein gene DOID:12849 autistic disorder ISO RGD:1606971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11693396 ZFP42 ZFP42 zinc finger protein gene DOID:2229 factor XI deficiency ISO RGD:1606971 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:34355501 11693396 ZFP42 ZFP42 zinc finger protein gene DOID:630 genetic disease ISO RGD:1606971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11693396 ZFP42 ZFP42 zinc finger protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11693419 POLD3 DNA polymerase delta 3, accessory subunit gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1323795 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11693419 POLD3 DNA polymerase delta 3, accessory subunit gene DOID:1059 intellectual disability ISO RGD:1323795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11693419 POLD3 DNA polymerase delta 3, accessory subunit gene DOID:630 genetic disease ISO RGD:1323795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11693419 POLD3 DNA polymerase delta 3, accessory subunit gene DOID:9008443 Colorectal Neoplasms ISO RGD:1323795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22634755|PMID:30510241 11693438 ZNF18 zinc finger protein 18 gene DOID:630 genetic disease ISO RGD:1312982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11693462 ASMTL acetylserotonin O-methyltransferase like gene DOID:12849 autistic disorder ISO RGD:1315744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11693462 ASMTL acetylserotonin O-methyltransferase like gene DOID:13938 amenorrhea ISO RGD:1315744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11693462 ASMTL acetylserotonin O-methyltransferase like gene DOID:2661 myoepithelioma ISO RGD:1315744 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11693462 ASMTL acetylserotonin O-methyltransferase like gene DOID:9119 acute myeloid leukemia ISO RGD:1315744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11693479 SLC44A4 solute carrier family 44 member 4 gene DOID:0050553 JMP syndrome ISO RGD:1349303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11693479 SLC44A4 solute carrier family 44 member 4 gene DOID:0080268 autosomal dominant nonsyndromic deafness 72 ISO RGD:1349303 D RGD:7240710 20190315 OMIM 11693479 SLC44A4 solute carrier family 44 member 4 gene DOID:0080268 autosomal dominant nonsyndromic deafness 72 ISO RGD:1349303 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 72 PMID:25741868|PMID:28013291|PMID:28492532 11693479 SLC44A4 solute carrier family 44 member 4 gene DOID:630 genetic disease ISO RGD:1349303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11693504 CRB3 crumbs cell polarity complex component 3 gene DOID:0080490 mucolipidosis type IV ISO RGD:1348954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11693504 CRB3 crumbs cell polarity complex component 3 gene DOID:630 genetic disease ISO RGD:1348954 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11693513 GKN2 gastrokine 2 gene DOID:630 genetic disease ISO RGD:1606131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11693524 DOCK3 dedicator of cytokinesis 3 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1315429 D RGD:9068941 20200609 RGD PMID:14569117|REF_RGD_ID:1358592 11693524 DOCK3 dedicator of cytokinesis 3 gene DOID:630 genetic disease ISO RGD:1315429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28195318|PMID:30976111 11693524 DOCK3 dedicator of cytokinesis 3 gene DOID:9002933 Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia ISO RGD:1315429 D RGD:7240710 20190315 OMIM 11693524 DOCK3 dedicator of cytokinesis 3 gene DOID:9002933 Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia ISO RGD:1315429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia PMID:25741868|PMID:28195318|PMID:28492532|PMID:29130632|PMID:30976111 11693524 DOCK3 dedicator of cytokinesis 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1315429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:30976111 11693595 NCBP2AS2 NCBP2 antisense 2 (head to head) gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:2291780 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 11693595 NCBP2AS2 NCBP2 antisense 2 (head to head) gene DOID:12849 autistic disorder ISO RGD:2291780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11693595 NCBP2AS2 NCBP2 antisense 2 (head to head) gene DOID:5419 schizophrenia ISO RGD:2291780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11693600 PDCD5 programmed cell death 5 gene DOID:630 genetic disease ISO RGD:1321536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11693615 REXO5 RNA exonuclease 5 gene DOID:630 genetic disease ISO RGD:1601954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11693645 VAT1L vesicle amine transport 1 like gene DOID:0060041 autism spectrum disorder ISO RGD:1605968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11693645 VAT1L vesicle amine transport 1 like gene DOID:0080452 developmental and epileptic encephalopathy 28 ISO RGD:1605968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 11693645 VAT1L vesicle amine transport 1 like gene DOID:630 genetic disease ISO RGD:1605968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11693673 MYCBP MYC binding protein gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1315945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11693673 MYCBP MYC binding protein gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1315945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11693687 SLC26A6 solute carrier family 26 member 6 gene DOID:630 genetic disease ISO RGD:1320955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11693687 SLC26A6 solute carrier family 26 member 6 gene DOID:684 hepatocellular carcinoma ISO RGD:1320955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11693687 SLC26A6 solute carrier family 26 member 6 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1320955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11693687 SLC26A6 solute carrier family 26 member 6 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1320955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:730884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:0080324 tuberous sclerosis 1 ISO RGD:730884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:730884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:0080600 COVID-19 ISO RGD:730884 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:32558485 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:0080600 COVID-19 susceptibility ISO RGD:730884 D RGD:9068941 20200709 RGD DNA:polymorphism:cds:allele A, allele O (human) PMID:32379894|REF_RGD_ID:35668862 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:0081097 Rafiq syndrome ISO RGD:730884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:0081267 graft-versus-host disease ISO RGD:730884 D RGD:9068941 20200609 RGD PMID:3289150|REF_RGD_ID:11100006 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:10763 hypertension susceptibility ISO RGD:730884 D RGD:9068941 20200709 RGD associated with COVID-19; DNA:polymorphism:cds:allele A (human) PMID:32379894|REF_RGD_ID:35668862 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:11162 respiratory failure ISO RGD:730884 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32558485 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:1240 leukemia susceptibility ISO RGD:730884 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:18426641|REF_RGD_ID:11100002 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:13406 pulmonary sarcoidosis severity ISO RGD:730884 D RGD:9068941 20200609 RGD PMID:9036208|REF_RGD_ID:5128833 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:14067 Plasmodium falciparum malaria susceptibility ISO RGD:730884 D RGD:9068941 20201015 RGD DNA:SNPs,haplotype:multiple PMID:18003641|REF_RGD_ID:39938831 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:730884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:1496 echinococcosis ISO RGD:730884 D RGD:9068941 20200609 RGD PMID:2142987|REF_RGD_ID:5128834 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:1724 duodenal ulcer ISO RGD:730884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22387998 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:1793 pancreatic cancer ISO RGD:730884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19648918|PMID:26098869 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:1793 pancreatic cancer ISO RGD:730884 D RGD:9068941 20200609 RGD PMID:20103627|REF_RGD_ID:2317511 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:2237 hepatitis susceptibility ISO RGD:730884 D RGD:9068941 20200709 RGD associated with COVID-19; DNA:polymorphism:cds:allele A (human) PMID:32379894|REF_RGD_ID:35668862 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:2841 asthma ISO RGD:730884 D RGD:9068941 20200609 RGD PMID:16008680|REF_RGD_ID:5128831 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:2841 asthma no_association ISO RGD:730884 D RGD:9068941 20200609 RGD PMID:19771478|REF_RGD_ID:5128835 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:2945 severe acute respiratory syndrome susceptibility ISO RGD:730884 D RGD:9068941 20200730 RGD PMID:15784866|REF_RGD_ID:5128832 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:3393 coronary artery disease ISO RGD:730884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:3652 Leigh disease ISO RGD:730884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:4001 ovarian carcinoma ISO RGD:730884 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:25581431 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:4948 gallbladder carcinoma ISO RGD:730884 D RGD:9068941 20200609 RGD PMID:7795450|REF_RGD_ID:2317512 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:552 pneumonia severity ISO RGD:730884 D RGD:9068941 20201015 RGD DNA:polymorphism:cds:allele A (human) PMID:4375858|REF_RGD_ID:39938844 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:583 hemolytic anemia ISO RGD:730884 D RGD:9068941 20200609 RGD PMID:3136561|REF_RGD_ID:11100010 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9000528 Coronary Disease ISO RGD:730884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Three Vessel Coronary Disease 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9000873 Adenoviridae Infections susceptibility ISO RGD:730884 D RGD:9068941 20201015 RGD DNA:polymorphism:cds:allele AB (human) PMID:4375858|REF_RGD_ID:39938844 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9001488 Human Influenza ISO RGD:730884 D RGD:9068941 20200609 RGD PMID:6189297|REF_RGD_ID:5128836 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9001488 Human Influenza susceptibility ISO RGD:730884 D RGD:9068941 20201015 RGD DNA:polymorphism:cds:allele AB (human) PMID:4375858|REF_RGD_ID:39938844 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9001827 Critical Illness ISO RGD:730884 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32558485 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9002304 Prostatic Neoplasms ISO RGD:730884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9003505 Venous Thromboembolism susceptibility ISO RGD:730884 D RGD:9068941 20200609 RGD DNA:polymorphism:: PMID:15735796|REF_RGD_ID:11100013 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9004484 Sepsis severity ISO RGD:730884 D RGD:9068941 20201015 RGD DNA:polymorphism:cds:allele A (human) PMID:4375858|REF_RGD_ID:39938844 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9004590 Acute Liver Failure treatment ISO RGD:730884 D RGD:9068941 20201015 RGD associated with Chronic Hepatitis B PMID:22321886|REF_RGD_ID:39938835 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9006532 Hematologic Neoplasms susceptibility ISO RGD:730884 D RGD:9068941 20200609 RGD PMID:19274076|REF_RGD_ID:11100003 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9007096 Stroke ISO RGD:730884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9007417 Pseudomonas Infections susceptibility ISO RGD:730884 D RGD:9068941 20200813 RGD DNA:polymorphism:cds:allele B (human) PMID:22464692|REF_RGD_ID:38455983 11693743 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:730884 D RGD:9068941 20200609 RGD PMID:17065136|REF_RGD_ID:11100012 11693767 TENT5A terminal nucleotidyltransferase 5A gene DOID:0111848 osteogenesis imperfecta type 18 ISO RGD:1604353 D RGD:7240710 20190315 OMIM 11693767 TENT5A terminal nucleotidyltransferase 5A gene DOID:0111848 osteogenesis imperfecta type 18 ISO RGD:1604353 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type 18 PMID:25741868|PMID:28492532|PMID:29358272 11693767 TENT5A terminal nucleotidyltransferase 5A gene DOID:10485 esophageal atresia ISO RGD:1604353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 11693767 TENT5A terminal nucleotidyltransferase 5A gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1604353 D RGD:9068941 20200609 RGD DNA:repeats: : PMID:25884493|REF_RGD_ID:14390136 11693767 TENT5A terminal nucleotidyltransferase 5A gene DOID:8398 osteoarthritis susceptibility ISO RGD:1604353 D RGD:9068941 20200609 RGD DNA:repeats: : PMID:25231575|REF_RGD_ID:14390133 11693778 ST8SIA1 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 gene DOID:3602 toxic encephalopathy ISO RGD:1603707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11693778 ST8SIA1 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 gene DOID:409 liver disease ISO RGD:1603707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11693778 ST8SIA1 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 gene DOID:630 genetic disease ISO RGD:1603707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11693792 SIGLEC15 sialic acid binding Ig like lectin 15 gene DOID:0060356 Vici syndrome ISO RGD:1604713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 11693792 SIGLEC15 sialic acid binding Ig like lectin 15 gene DOID:1059 intellectual disability ISO RGD:1604713 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11693792 SIGLEC15 sialic acid binding Ig like lectin 15 gene DOID:630 genetic disease ISO RGD:1604713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11693792 SIGLEC15 sialic acid binding Ig like lectin 15 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1604713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 11693805 SLC27A4 solute carrier family 27 member 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316551 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11693805 SLC27A4 solute carrier family 27 member 4 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1316551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:19631310|PMID:21450060|PMID:22927265|PMID:26783444|PMID:27025581|PMID:28492532 11693805 SLC27A4 solute carrier family 27 member 4 gene DOID:0060762 restrictive dermopathy ISO RGD:1316552 D RGD:9068941 20220825 MouseDO OMIM:275210 11693805 SLC27A4 solute carrier family 27 member 4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316551 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11693805 SLC27A4 solute carrier family 27 member 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316551 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11693805 SLC27A4 solute carrier family 27 member 4 gene DOID:630 genetic disease ISO RGD:1316551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:19631310|PMID:21450060|PMID:28492532 11693805 SLC27A4 solute carrier family 27 member 4 gene DOID:9001309 Ichthyosis Prematurity Syndrome ISO RGD:1316551 D RGD:7240710 20180130 OMIM 11693805 SLC27A4 solute carrier family 27 member 4 gene DOID:9001309 Ichthyosis Prematurity Syndrome ISO RGD:1316551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ichthyosis prematurity syndrome PMID:19631310|PMID:21450060|PMID:22927265|PMID:25741868|PMID:26783444|PMID:27025581|PMID:27081519|PMID:27224495|PMID:28492532|PMID:30536735 11693805 SLC27A4 solute carrier family 27 member 4 gene DOID:9007692 Insulin Resistance ISO RGD:1316551 D RGD:9068941 20200609 RGD mRNA:increased expression:subcutaneous adipose tissue PMID:15168018|REF_RGD_ID:1625638 11693805 SLC27A4 solute carrier family 27 member 4 gene DOID:9452 fatty liver disease ISO RGD:1307383 D RGD:9068941 20200609 RGD mRNA, protein:increased expression PMID:16248953|REF_RGD_ID:1625640 11693805 SLC27A4 solute carrier family 27 member 4 gene DOID:9970 obesity ISO RGD:1316551 D RGD:9068941 20200609 RGD mRNA:increased expression:subcutaneous adipose tissue PMID:15168018|REF_RGD_ID:1625638 11693821 LOC100972219 protein NipSnap homolog 3A gene DOID:630 genetic disease ISO RGD:1352624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11693831 STRBP spermatid perinuclear RNA binding protein gene DOID:3910 lung adenocarcinoma ISO RGD:1352738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11693831 STRBP spermatid perinuclear RNA binding protein gene DOID:630 genetic disease ISO RGD:1352738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11693831 STRBP spermatid perinuclear RNA binding protein gene DOID:9006205 Animal Disease Models ISO RGD:1352738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11693858 ANO8 anoctamin 8 gene DOID:630 genetic disease ISO RGD:1349559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11693888 STON2 stonin 2 gene DOID:630 genetic disease ISO RGD:1604566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11693911 ZFYVE16 zinc finger FYVE-type containing 16 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1348980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 11693911 ZFYVE16 zinc finger FYVE-type containing 16 gene DOID:630 genetic disease ISO RGD:1348980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11693911 ZFYVE16 zinc finger FYVE-type containing 16 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348980 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11693911 ZFYVE16 zinc finger FYVE-type containing 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11693911 ZFYVE16 zinc finger FYVE-type containing 16 gene DOID:9565 dextrocardia ISO RGD:1348980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dextrocardia 11693942 SOX14 SRY-box transcription factor 14 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1320109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 11693942 SOX14 SRY-box transcription factor 14 gene DOID:630 genetic disease ISO RGD:1320109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11693947 PDE6A phosphodiesterase 6A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1315676 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11693947 PDE6A phosphodiesterase 6A gene DOID:0110379 retinitis pigmentosa 43 ISO RGD:1315676 D RGD:7240710 20180130 OMIM 11693947 PDE6A phosphodiesterase 6A gene DOID:0110379 retinitis pigmentosa 43 ISO RGD:1315676 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 43 PMID:10393062|PMID:16199547|PMID:17110911|PMID:17576681|PMID:18849587|PMID:21039428|PMID:21147909|PMID:21151602|PMID:22128245|PMID:23105016|PMID:23847139|PMID:24265693|PMID:24339724|PMID:24416769|PMID:24512775|PMID:25182519|PMID:25741868|PMID:25775262|PMID:25999674|PMID:26188004|PMID:26306921|PMID:26321862|PMID:26868535|PMID:27208204|PMID:27551530|PMID:27917291|PMID:28041643|PMID:28157543|PMID:28492532|PMID:29343940|PMID:29693493|PMID:30337596|PMID:30543658|PMID:30718709|PMID:30998820|PMID:31213501|PMID:31736247|PMID:31872526|PMID:33057649|PMID:33090715|PMID:33946315|PMID:34926197|PMID:35533076|PMID:7493036|PMID:9536098 11693947 PDE6A phosphodiesterase 6A gene DOID:10584 retinitis pigmentosa ISO RGD:1315676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10393062|PMID:16199547|PMID:17110911|PMID:18723146|PMID:21147909|PMID:21151602|PMID:22128245|PMID:23105016|PMID:23134348|PMID:23847139|PMID:24265693|PMID:24339724|PMID:24416769|PMID:24512775|PMID:25741868|PMID:25775262|PMID:25999674|PMID:26188004|PMID:26806561|PMID:26868535|PMID:27208204|PMID:27551530|PMID:27820873|PMID:27917291|PMID:28041643|PMID:28492532|PMID:29118501|PMID:29343940|PMID:29693493|PMID:30029497|PMID:30337596|PMID:30619975|PMID:30718709|PMID:30998820|PMID:31213501|PMID:31736247|PMID:33057649|PMID:33090715|PMID:7493036 11693947 PDE6A phosphodiesterase 6A gene DOID:10584 retinitis pigmentosa ISO RGD:1315676 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10393062|PMID:16199547|PMID:17110911|PMID:18723146|PMID:21147909|PMID:21151602|PMID:22128245|PMID:23105016|PMID:23134348|PMID:23847139|PMID:24265693|PMID:24339724|PMID:24416769|PMID:24512775|PMID:25741868|PMID:25775262|PMID:25999674|PMID:26188004|PMID:26306921|PMID:26806561|PMID:26868535|PMID:27208204|PMID:27551530|PMID:27820873|PMID:27917291|PMID:28041643|PMID:28492532|PMID:29118501|PMID:29343940|PMID:29693493|PMID:30029497|PMID:30337596|PMID:30619975|PMID:30718709|PMID:30998820|PMID:31213501|PMID:31736247|PMID:33057649|PMID:33090715|PMID:7493036 11693947 PDE6A phosphodiesterase 6A gene DOID:10584 retinitis pigmentosa ISO RGD:1315676 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10393062|PMID:16199547|PMID:17110911|PMID:18723146|PMID:21147909|PMID:21151602|PMID:22128245|PMID:23105016|PMID:23134348|PMID:23847139|PMID:24265693|PMID:24339724|PMID:24416769|PMID:24512775|PMID:25182519|PMID:25741868|PMID:25775262|PMID:25999674|PMID:26188004|PMID:26306921|PMID:26806561|PMID:26868535|PMID:27208204|PMID:27551530|PMID:27820873|PMID:27917291|PMID:28041643|PMID:28492532|PMID:29118501|PMID:29343940|PMID:29693493|PMID:30029497|PMID:30337596|PMID:30619975|PMID:30718709|PMID:30998820|PMID:31213501|PMID:31736247|PMID:33057649|PMID:33090715|PMID:7493036 11693947 PDE6A phosphodiesterase 6A gene DOID:14791 Leber congenital amaurosis ISO RGD:1315676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 11693947 PDE6A phosphodiesterase 6A gene DOID:630 genetic disease ISO RGD:1315676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22128245|PMID:23847139|PMID:25741868|PMID:26321862|PMID:26496393|PMID:26806561|PMID:28041643|PMID:28492532|PMID:29693493|PMID:30619975|PMID:7493036 11693947 PDE6A phosphodiesterase 6A gene DOID:8501 fundus dystrophy ISO RGD:1315676 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10393062|PMID:16199547|PMID:17110911|PMID:17576681|PMID:18849587|PMID:21039428|PMID:22128245|PMID:23105016|PMID:23134348|PMID:23847139|PMID:24339724|PMID:24416769|PMID:25741868|PMID:25775262|PMID:26188004|PMID:26806561|PMID:26868535|PMID:27208204|PMID:27551530|PMID:27917291|PMID:28041643|PMID:28157543|PMID:28492532|PMID:29343940|PMID:29693493|PMID:30543658|PMID:30718709|PMID:31872526|PMID:33057649|PMID:35533076|PMID:7493036|PMID:9536098 11693947 PDE6A phosphodiesterase 6A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11693947 PDE6A phosphodiesterase 6A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315676 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11693977 HSPA12B heat shock protein family A (Hsp70) member 12B gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1323758 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11693977 HSPA12B heat shock protein family A (Hsp70) member 12B gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1323758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11693977 HSPA12B heat shock protein family A (Hsp70) member 12B gene DOID:630 genetic disease ISO RGD:1323758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11693977 HSPA12B heat shock protein family A (Hsp70) member 12B gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1323758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 11693999 AQP9 aquaporin 9 gene DOID:0060041 autism spectrum disorder ISO RGD:735505 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11693999 AQP9 aquaporin 9 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:735505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23563754 11693999 AQP9 aquaporin 9 gene DOID:1240 leukemia ISO RGD:735505 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15336539 11693999 AQP9 aquaporin 9 gene DOID:2717 Bloom syndrome ISO RGD:735505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11693999 AQP9 aquaporin 9 gene DOID:630 genetic disease ISO RGD:735505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11693999 AQP9 aquaporin 9 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11693999 AQP9 aquaporin 9 gene DOID:9005968 Neuralgia ameliorates ISO RGD:68433 D RGD:9068941 20220623 RGD PMID:31746418|REF_RGD_ID:152995474 11693999 AQP9 aquaporin 9 gene DOID:9006854 MPTP Poisoning ISO RGD:735505 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:29566083 11693999 AQP9 aquaporin 9 gene DOID:9007964 Arsenic Poisoning ISO RGD:735505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19805235 11693999 AQP9 aquaporin 9 gene DOID:9008091 Optic Nerve Injuries ISO RGD:68433 D RGD:9068941 20200609 RGD PMID:20216911|REF_RGD_ID:2326035 11693999 AQP9 aquaporin 9 gene DOID:9119 acute myeloid leukemia ISO RGD:735505 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16968895 11693999 AQP9 aquaporin 9 gene DOID:9256 colorectal cancer ISO RGD:735505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11694016 MYPOP Myb related transcription factor, partner of profilin gene DOID:630 genetic disease ISO RGD:1606912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694022 ZNF789 zinc finger protein 789 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11694022 ZNF789 zinc finger protein 789 gene DOID:630 genetic disease ISO RGD:1603509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694044 TEFM transcription elongation factor, mitochondrial gene DOID:0111253 neurofibromatosis 1 ISO RGD:1605945 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 11694044 TEFM transcription elongation factor, mitochondrial gene DOID:1969 cerebral palsy ISO RGD:1605945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 11694044 TEFM transcription elongation factor, mitochondrial gene DOID:630 genetic disease ISO RGD:1605945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694044 TEFM transcription elongation factor, mitochondrial gene DOID:9008086 Developmental Disabilities ISO RGD:1605945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 11694055 KHDC4 KH domain containing 4, pre-mRNA splicing factor gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1605086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11694055 KHDC4 KH domain containing 4, pre-mRNA splicing factor gene DOID:0060586 Noonan syndrome 8 ISO RGD:1605086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 11694055 KHDC4 KH domain containing 4, pre-mRNA splicing factor gene DOID:0111940 immunodeficiency 42 ISO RGD:1605086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11694055 KHDC4 KH domain containing 4, pre-mRNA splicing factor gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11694055 KHDC4 KH domain containing 4, pre-mRNA splicing factor gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605086 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11694055 KHDC4 KH domain containing 4, pre-mRNA splicing factor gene DOID:1540 parathyroid carcinoma ISO RGD:1605086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11694055 KHDC4 KH domain containing 4, pre-mRNA splicing factor gene DOID:5812 MHC class II deficiency ISO RGD:1605086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11694055 KHDC4 KH domain containing 4, pre-mRNA splicing factor gene DOID:630 genetic disease ISO RGD:1605086 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694055 KHDC4 KH domain containing 4, pre-mRNA splicing factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11694075 RBM33 RNA binding motif protein 33 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1604982 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:23370340|PMID:24095820|PMID:28492532|PMID:29992659|PMID:31334757 11694075 RBM33 RNA binding motif protein 33 gene DOID:12849 autistic disorder ISO RGD:1604982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11694075 RBM33 RNA binding motif protein 33 gene DOID:630 genetic disease ISO RGD:1604982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694111 DCUN1D2 defective in cullin neddylation 1 domain containing 2 gene DOID:2222 factor X deficiency ISO RGD:1323358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 11694111 DCUN1D2 defective in cullin neddylation 1 domain containing 2 gene DOID:630 genetic disease ISO RGD:1323358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694111 DCUN1D2 defective in cullin neddylation 1 domain containing 2 gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:1323358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy 11694130 GPR137 G protein-coupled receptor 137 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1604608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11694130 GPR137 G protein-coupled receptor 137 gene DOID:1059 intellectual disability ISO RGD:1604608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11694130 GPR137 G protein-coupled receptor 137 gene DOID:3070 high grade glioma ISO RGD:1604608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11694130 GPR137 G protein-coupled receptor 137 gene DOID:630 genetic disease ISO RGD:1604608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694159 SLC1A2 solute carrier family 1 member 2 gene DOID:0080442 developmental and epileptic encephalopathy 41 ISO RGD:732300 D RGD:7240710 20190315 OMIM 11694159 SLC1A2 solute carrier family 1 member 2 gene DOID:0080442 developmental and epileptic encephalopathy 41 ISO RGD:732300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 41 PMID:23107647|PMID:23934111|PMID:24214974|PMID:25741868|PMID:27476654|PMID:28492532|PMID:28777935|PMID:31164858|PMID:31618753 11694159 SLC1A2 solute carrier family 1 member 2 gene DOID:1059 intellectual disability ISO RGD:732300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11694159 SLC1A2 solute carrier family 1 member 2 gene DOID:12858 Huntington's disease ISO RGD:732300 D RGD:9068941 20200609 RGD PMID:9100675|REF_RGD_ID:13432194 11694159 SLC1A2 solute carrier family 1 member 2 gene DOID:12858 Huntington's disease ISO RGD:736773 D RGD:9068941 20200609 RGD PMID:17409241|REF_RGD_ID:13432195 11694159 SLC1A2 solute carrier family 1 member 2 gene DOID:1826 epilepsy ISO RGD:732300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19853022 11694159 SLC1A2 solute carrier family 1 member 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11723166 11694159 SLC1A2 solute carrier family 1 member 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732300 D RGD:9068941 20200609 RGD mRNA:processing errors:spinal cord, motor cortex (human) PMID:9539131|REF_RGD_ID:1302517 11694159 SLC1A2 solute carrier family 1 member 2 gene DOID:630 genetic disease ISO RGD:732300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11694159 SLC1A2 solute carrier family 1 member 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:732300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21471434 11694159 SLC1A2 solute carrier family 1 member 2 gene DOID:9002955 Nerve Degeneration ISO RGD:732300 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22645130 11694159 SLC1A2 solute carrier family 1 member 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732300 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19625514 11694159 SLC1A2 solute carrier family 1 member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 11694198 SMIM7 small integral membrane protein 7 gene DOID:630 genetic disease ISO RGD:1601966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694215 SPARCL1 SPARC like 1 gene DOID:1826 epilepsy ISO RGD:736595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18488994 11694215 SPARCL1 SPARC like 1 gene DOID:289 endometriosis ISO RGD:736595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11694215 SPARCL1 SPARC like 1 gene DOID:630 genetic disease ISO RGD:736595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694215 SPARCL1 SPARC like 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 11694234 USP53 ubiquitin specific peptidase 53 gene DOID:0070224 progressive familial intrahepatic cholestasis 4 ISO RGD:1315332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, (PFIC4-like) PMID:25741868|PMID:32124521 11694234 USP53 ubiquitin specific peptidase 53 gene DOID:13580 cholestasis ISO RGD:1315332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cholestasis PMID:25741868|PMID:32124521|PMID:34608165 11694234 USP53 ubiquitin specific peptidase 53 gene DOID:5426 primary ovarian insufficiency ISO RGD:1315332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 11694234 USP53 ubiquitin specific peptidase 53 gene DOID:630 genetic disease ISO RGD:1315332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32124521 11694234 USP53 ubiquitin specific peptidase 53 gene DOID:9002460 Progressive Familial Intrahepatic Cholestasis 7 ISO RGD:1315332 D RGD:7240710 20211222 OMIM 11694234 USP53 ubiquitin specific peptidase 53 gene DOID:9002460 Progressive Familial Intrahepatic Cholestasis 7 ISO RGD:1315332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss PMID:25741868|PMID:28492532|PMID:30250217|PMID:32124521|PMID:33075013|PMID:34608165 11694234 USP53 ubiquitin specific peptidase 53 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11694264 LOC100991907 olfactory receptor 14I1 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1349157 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11694264 LOC100991907 olfactory receptor 14I1 gene DOID:1540 parathyroid carcinoma ISO RGD:1349157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11694264 LOC100991907 olfactory receptor 14I1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11694265 RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:0060237 Warburg micro syndrome ISO RGD:1604828 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Warburg micro syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:35196747 11694265 RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:0060591 WHIM syndrome 1 ISO RGD:1604828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:28492532 11694265 RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:0110716 Warburg micro syndrome 1 ISO RGD:1604828 D RGD:7240710 20180228 OMIM 11694265 RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:0110716 Warburg micro syndrome 1 ISO RGD:1604828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Warburg micro syndrome 1 PMID:15216543|PMID:15696165|PMID:16199547|PMID:17351351|PMID:17576681|PMID:18286824|PMID:18414213|PMID:20512159|PMID:20584031|PMID:23176487|PMID:23420520|PMID:25326635|PMID:25741868|PMID:26138576|PMID:26421802|PMID:26467025|PMID:26852512|PMID:28454995|PMID:28492532|PMID:29300443|PMID:29878067|PMID:30202406|PMID:31319225|PMID:32740904|PMID:32870266|PMID:8249951|PMID:9536098 11694265 RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:11383 cryptorchidism ISO RGD:1604828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryptorchidism 11694265 RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:13938 amenorrhea ISO RGD:1604828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:25741868|PMID:26467025|PMID:28492532|PMID:32870266 11694265 RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:630 genetic disease ISO RGD:1604828 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15696165|PMID:16199547|PMID:17351351|PMID:20512159|PMID:23176487|PMID:23420520|PMID:25741868|PMID:26852512|PMID:28492532|PMID:29300443|PMID:31319225|PMID:34702808 11694265 RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:9000980 Martsolf Syndrome 2 ISO RGD:1604828 D RGD:7240710 20210728 OMIM 11694265 RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:9000980 Martsolf Syndrome 2 ISO RGD:1604828 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 2 PMID:23420520|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29300443|PMID:30730599 11694265 RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:9006949 Martsolf Syndrome ISO RGD:1604828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:29300443 11694305 BMP10 bone morphogenetic protein 10 gene DOID:630 genetic disease ISO RGD:1353352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694305 BMP10 bone morphogenetic protein 10 gene DOID:6419 tetralogy of Fallot ISO RGD:1558624 D RGD:9068941 20220825 MouseDO OMIM:187500 11694305 BMP10 bone morphogenetic protein 10 gene DOID:9000784 Fibrosis ISO RGD:1353352 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31712309 11694305 BMP10 bone morphogenetic protein 10 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1562986 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA:increased expression:heart left ventricle PMID:17921333|REF_RGD_ID:2302083 11694305 BMP10 bone morphogenetic protein 10 gene DOID:9651 systolic heart failure ISO RGD:1353352 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31712309 11694311 WDR75 WD repeat domain 75 gene DOID:0111944 immunodeficiency 31B ISO RGD:1604581 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 11694311 WDR75 WD repeat domain 75 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1604581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:20648054|PMID:23587214|PMID:28492532 11694311 WDR75 WD repeat domain 75 gene DOID:630 genetic disease ISO RGD:1604581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694311 WDR75 WD repeat domain 75 gene DOID:9001287 Ehlers-Danlos Syndrome Type 4 ISO RGD:1604581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 PMID:20648054|PMID:23587214|PMID:28492532 11694311 WDR75 WD repeat domain 75 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11694336 DNAAF8 dynein axonemal assembly factor 8 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11694336 DNAAF8 dynein axonemal assembly factor 8 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1604523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 11694336 DNAAF8 dynein axonemal assembly factor 8 gene DOID:1826 epilepsy ISO RGD:1604523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11694336 DNAAF8 dynein axonemal assembly factor 8 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604523 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11694336 DNAAF8 dynein axonemal assembly factor 8 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1604523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 11694359 CCDC137 coiled-coil domain containing 137 gene DOID:5419 schizophrenia ISO RGD:1625086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 11694359 CCDC137 coiled-coil domain containing 137 gene DOID:630 genetic disease ISO RGD:1625086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694373 MGAM maltase-glucoamylase gene DOID:0080690 RASopathy ISO RGD:1318097 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 11694373 MGAM maltase-glucoamylase gene DOID:630 genetic disease ISO RGD:1318097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694373 MGAM maltase-glucoamylase gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1318097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 11694470 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349836 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11694470 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:1240 leukemia ISO RGD:1349836 D RGD:9068941 20200609 RGD DNA:translocation: :t(5;12)(q31;p13) (human) PMID:10502316|REF_RGD_ID:1599805 11694470 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1349836 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:28492532 11694470 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:5419 schizophrenia ISO RGD:1349836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11694470 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:630 genetic disease ISO RGD:1349836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694470 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:670 amphetamine abuse ISO RGD:1349836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11694470 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11694470 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:9005372 Inflammation ISO RGD:69403 D RGD:9068941 20200609 RGD mRNA:increased expression:lumbar spinal cord (rat) PMID:14622223|REF_RGD_ID:2315920 11694470 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69403 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:16428347|REF_RGD_ID:1599808 11694470 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 11694470 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349836 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11694470 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:9119 acute myeloid leukemia ISO RGD:1349836 D RGD:9068941 20200609 RGD DNA:translocation: :t(5;12)(q31;p13) (human) PMID:10502316|REF_RGD_ID:1599805 11694512 CKS1B CDC28 protein kinase regulatory subunit 1B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1344929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11694512 CKS1B CDC28 protein kinase regulatory subunit 1B gene DOID:0111940 immunodeficiency 42 ISO RGD:1344929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11694512 CKS1B CDC28 protein kinase regulatory subunit 1B gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11694512 CKS1B CDC28 protein kinase regulatory subunit 1B gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11694512 CKS1B CDC28 protein kinase regulatory subunit 1B gene DOID:1540 parathyroid carcinoma ISO RGD:1344929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11694512 CKS1B CDC28 protein kinase regulatory subunit 1B gene DOID:5812 MHC class II deficiency ISO RGD:1344929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11694512 CKS1B CDC28 protein kinase regulatory subunit 1B gene DOID:9008939 Breast Neoplasms ISO RGD:1344929 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast neoplasm 11694512 CKS1B CDC28 protein kinase regulatory subunit 1B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11694520 ZMAT1 zinc finger matrin-type 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11694520 ZMAT1 zinc finger matrin-type 1 gene DOID:12849 autistic disorder ISO RGD:1345896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11694520 ZMAT1 zinc finger matrin-type 1 gene DOID:630 genetic disease ISO RGD:1345896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694536 CFH complement factor H gene DOID:0060746 basal laminar drusen ISO RGD:1353869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Basal laminar drusen | ClinVar Annotator: match by term: DRUSEN, EARLY ADULT-ONSET, GROUPED PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170896|PMID:11978762|PMID:12424708|PMID:12697737|PMID:14978182|PMID:15761120|PMID:15761121|PMID:15761122|PMID:15870199|PMID:15895326|PMID:16229850|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:16621965|PMID:16630992|PMID:16710702|PMID:16787919|PMID:16816528|PMID:16936733|PMID:17018561|PMID:17076561|PMID:17079491|PMID:17198853|PMID:17210858|PMID:17241667|PMID:17293598|PMID:17360715|PMID:17396242|PMID:17398321|PMID:17472578|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252232|PMID:18252712|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20301541|PMID:20513133|PMID:20660596|PMID:21317894|PMID:21415311|PMID:21670343|PMID:21909106|PMID:21930971|PMID:21979047|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:22594991|PMID:22669321|PMID:23307876|PMID:23431077|PMID:23852337|PMID:23870792|PMID:24036949|PMID:24333077|PMID:24498017|PMID:24847005|PMID:25006455|PMID:25037630|PMID:25188723|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26501415|PMID:26559391|PMID:26826462|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29410599|PMID:29500241|PMID:29511899|PMID:29686068|PMID:29888403|PMID:30560448|PMID:31447099|PMID:33519811|PMID:34189567|PMID:8072530|PMID:9536098|PMID:9811382 11694536 CFH complement factor H gene DOID:0060746 basal laminar drusen susceptibility ISO RGD:1353869 D RGD:7240710 20230517 OMIM 11694536 CFH complement factor H gene DOID:0080162 lupus nephritis ISO RGD:1353869 D RGD:9068941 20200609 RGD PMID:22171659|REF_RGD_ID:5684551 11694536 CFH complement factor H gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11978762|PMID:12424708|PMID:12697737|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16601698|PMID:16619239|PMID:17018561|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252712|PMID:18268093|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:23431077|PMID:23852337|PMID:24036949|PMID:24498017|PMID:25037630|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26559391|PMID:26826462|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29410599|PMID:29500241|PMID:29888403|PMID:30560448|PMID:31447099|PMID:33519811|PMID:646435|PMID:8072530|PMID:9536098|PMID:9551389|PMID:9811382|PMID:9848786 11694536 CFH complement factor H gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353869 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11978762|PMID:12424708|PMID:12697737|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:17018561|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252712|PMID:18268093|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:23431077|PMID:23852337|PMID:24036949|PMID:24498017|PMID:25037630|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26559391|PMID:26826462|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29410599|PMID:29500241|PMID:29888403|PMID:30560448|PMID:31447099|PMID:33519811|PMID:34189567|PMID:646435|PMID:8072530|PMID:9536098|PMID:9551389|PMID:9811382|PMID:9848786 11694536 CFH complement factor H gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353869 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11978762|PMID:12424708|PMID:12697737|PMID:14978182|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:17018561|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252712|PMID:18268093|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:23431077|PMID:23852337|PMID:24036949|PMID:24498017|PMID:25037630|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26559391|PMID:26826462|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29410599|PMID:29500241|PMID:29888403|PMID:30560448|PMID:31447099|PMID:33519811|PMID:34189567|PMID:646435|PMID:8072530|PMID:9536098|PMID:9551389|PMID:9811382|PMID:9848786 11694536 CFH complement factor H gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353869 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11978762|PMID:12424708|PMID:12697737|PMID:14978182|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:17018561|PMID:17076561|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252712|PMID:18268093|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20301541|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:23431077|PMID:23852337|PMID:24036949|PMID:24498017|PMID:25037630|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26559391|PMID:26826462|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29410599|PMID:29500241|PMID:29888403|PMID:30560448|PMID:31447099|PMID:33519811|PMID:34189567|PMID:646435|PMID:8072530|PMID:9536098|PMID:9551389|PMID:9811382|PMID:9848786 11694536 CFH complement factor H gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353869 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11978762|PMID:12424708|PMID:12697737|PMID:14978182|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:17018561|PMID:17076561|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252712|PMID:18268093|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20301541|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:23431077|PMID:23852337|PMID:24036949|PMID:24498017|PMID:24906858|PMID:25037630|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26501415|PMID:26559391|PMID:26826462|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29410599|PMID:29500241|PMID:29888403|PMID:30295827|PMID:30560448|PMID:31447099|PMID:32185379|PMID:33519811|PMID:34189567|PMID:646435|PMID:8072530|PMID:9536098|PMID:9551389|PMID:9811382|PMID:9848786 11694536 CFH complement factor H gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11978762|PMID:12424708|PMID:12697737|PMID:14978182|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:17018561|PMID:17076561|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252712|PMID:18268093|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20301541|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:23307876|PMID:23431077|PMID:23852337|PMID:24036949|PMID:24498017|PMID:24847005|PMID:24906858|PMID:25006455|PMID:25037630|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26501415|PMID:26559391|PMID:26826462|PMID:27572114|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29410599|PMID:29500241|PMID:29686068|PMID:29888403|PMID:30295827|PMID:30560448|PMID:31447099|PMID:32185379|PMID:33519811|PMID:34189567|PMID:646435|PMID:8072530|PMID:9536098|PMID:9551389|PMID:9811382|PMID:9848786 11694536 CFH complement factor H gene DOID:0080301 atypical hemolytic-uremic syndrome susceptibility ISO RGD:1353869 D RGD:7240710 20230517 OMIM 11694536 CFH complement factor H gene DOID:0080600 COVID-19 severity ISO RGD:1353869 D RGD:9068941 20200813 RGD DNA:SNP: : PMID:32747830|REF_RGD_ID:38500238 11694536 CFH complement factor H gene DOID:0110017 age related macular degeneration 4 ISO RGD:1353869 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 4 PMID:10577907|PMID:10762557|PMID:11158219|PMID:11978762|PMID:12424708|PMID:12697737|PMID:15761120|PMID:15761121|PMID:15761122|PMID:15870199|PMID:15895326|PMID:16229850|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:16630992|PMID:16710702|PMID:16787919|PMID:16816528|PMID:16936732|PMID:16936733|PMID:17018561|PMID:17076561|PMID:17079491|PMID:17198853|PMID:17210858|PMID:17241667|PMID:17293598|PMID:17360715|PMID:17396242|PMID:17398321|PMID:17472578|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252232|PMID:18252712|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20301541|PMID:20660596|PMID:21317894|PMID:21415311|PMID:21670343|PMID:21909106|PMID:21930971|PMID:21979047|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:23431077|PMID:23852337|PMID:24036949|PMID:24498017|PMID:24906858|PMID:25037630|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26501415|PMID:26559391|PMID:26826462|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29410599|PMID:29500241|PMID:29888403|PMID:30295827|PMID:30560448|PMID:31447099|PMID:32185379|PMID:33519811|PMID:34189567|PMID:8072530|PMID:9536098|PMID:9811382 11694536 CFH complement factor H gene DOID:0110017 age related macular degeneration 4 susceptibility ISO RGD:1353869 D RGD:7240710 20230517 OMIM 11694536 CFH complement factor H gene DOID:0111101 maturity-onset diabetes of the young type 5 ISO RGD:1353869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Renal cysts and diabetes syndrome PMID:25741868 11694536 CFH complement factor H gene DOID:10976 membranous glomerulonephritis ISO RGD:620428 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:glomerulus PMID:12911541|REF_RGD_ID:1599888 11694536 CFH complement factor H gene DOID:11335 sarcoidosis susceptibility ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.Y402H(human) PMID:23497844|REF_RGD_ID:7365014 11694536 CFH complement factor H gene DOID:12030 panuveitis susceptibility ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.Y402H(human) PMID:23497844|REF_RGD_ID:7365014 11694536 CFH complement factor H gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:mutations, polymorphisms:promoter, exon:multiple PMID:14583443|REF_RGD_ID:11041164 11694536 CFH complement factor H gene DOID:12554 hemolytic-uremic syndrome ISO RGD:733427 D RGD:9068941 20220825 MouseDO OMIM:235400 | OMIM:612922 | OMIM:612923 | OMIM:612924 | OMIM:612925 | OMIM:612926 11694536 CFH complement factor H gene DOID:12574 posterior uveitis susceptibility ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.Y402H(human) PMID:23497844|REF_RGD_ID:7365014 11694536 CFH complement factor H gene DOID:1287 cardiovascular system disease ISO RGD:1353869 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:SNP: :rs1410996(human) PMID:23296223|REF_RGD_ID:7365023 11694536 CFH complement factor H gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1353869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:15870199|PMID:16299065|PMID:17089378|PMID:17947292|PMID:18252712|PMID:19259132|PMID:21909106|PMID:25741868|PMID:28492532|PMID:8072530 11694536 CFH complement factor H gene DOID:13603 obstructive jaundice ISO RGD:620428 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:20132852|REF_RGD_ID:7364952 11694536 CFH complement factor H gene DOID:1407 anterior uveitis ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :rs800292 (human) PMID:22714898|REF_RGD_ID:7411695 11694536 CFH complement factor H gene DOID:1540 parathyroid carcinoma ISO RGD:1353869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11694536 CFH complement factor H gene DOID:1686 glaucoma ISO RGD:1353869 D RGD:9068941 20200609 RGD protein:decreased expression:retina: PMID:20484586|REF_RGD_ID:7364950 11694536 CFH complement factor H gene DOID:1749 squamous cell carcinoma ISO RGD:1353869 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:23938460|REF_RGD_ID:8662319 11694536 CFH complement factor H gene DOID:2377 multiple sclerosis no_association ISO RGD:1353869 D RGD:9068941 20200609 RGD PMID:21618592|REF_RGD_ID:5684555 11694536 CFH complement factor H gene DOID:2527 nephrosis ISO RGD:620428 D RGD:9068941 20200609 RGD protein:altered expression:kidney: PMID:22815489|REF_RGD_ID:7364901 11694536 CFH complement factor H gene DOID:2569 retinal drusen ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:mutations:multiple: PMID:22491393|REF_RGD_ID:7365010 11694536 CFH complement factor H gene DOID:2569 retinal drusen susceptibility ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:SNPs: :p.Y402H, rs1410996(human) PMID:18936151|REF_RGD_ID:7365005 11694536 CFH complement factor H gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1353869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis | ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis, type II PMID:32581362 11694536 CFH complement factor H gene DOID:2921 glomerulonephritis ISO RGD:733427 D RGD:9068941 20200609 RGD PMID:17344423|REF_RGD_ID:7365002 11694536 CFH complement factor H gene DOID:3454 brain infarction treatment ISO RGD:1353869 D RGD:9068941 20200609 RGD PMID:21695352|REF_RGD_ID:5508764 11694536 CFH complement factor H gene DOID:4448 macular degeneration ISO RGD:1353869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular degeneration 11694536 CFH complement factor H gene DOID:4448 macular degeneration disease_progression ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.Y402H(human) PMID:17456821|REF_RGD_ID:7364999 11694536 CFH complement factor H gene DOID:4448 macular degeneration no_association ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:SNP: :rs1061170 (Y402H)(human) PMID:16710702|REF_RGD_ID:7365035 11694536 CFH complement factor H gene DOID:4448 macular degeneration susceptibility ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:SNP: :rs1061170(human) PMID:23362846|REF_RGD_ID:7365022 11694536 CFH complement factor H gene DOID:4448 macular degeneration susceptibility ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:SNP: :rs1410996(human) PMID:23534868|REF_RGD_ID:7365021 11694536 CFH complement factor H gene DOID:4448 macular degeneration susceptibility ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.Y402H(human) PMID:16379025|PMID:16877387|REF_RGD_ID:7365034|REF_RGD_ID:7365036 11694536 CFH complement factor H gene DOID:5327 retinal detachment no_association ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Y402H (rs1061170) PMID:18515590|REF_RGD_ID:7411726 11694536 CFH complement factor H gene DOID:5327 retinal detachment susceptibility ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:SNP, missense mutation:promoter, cds:g.-257C>T, p.I62V (rs3753394, rs800292) PMID:18515590|REF_RGD_ID:7411726 11694536 CFH complement factor H gene DOID:557 kidney disease ISO RGD:1353869 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:11158219|PMID:12424708|PMID:12697737|PMID:16338962|PMID:16601698|PMID:17018561|PMID:18235085|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:21317894|PMID:22019782|PMID:22410797|PMID:23431077|PMID:24036949|PMID:24498017|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26826462|PMID:28492532|PMID:29410599|PMID:29500241|PMID:29888403|PMID:31447099 11694536 CFH complement factor H gene DOID:576 proteinuria ISO RGD:620428 D RGD:9068941 20200609 RGD protein:altered expression:kidney: PMID:22815489|REF_RGD_ID:7364901 11694536 CFH complement factor H gene DOID:612 primary immunodeficiency disease ISO RGD:1353869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14978182 11694536 CFH complement factor H gene DOID:630 genetic disease ISO RGD:1353869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11694536 CFH complement factor H gene DOID:670 amphetamine abuse ISO RGD:1353869 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:22871478|REF_RGD_ID:7364944 11694536 CFH complement factor H gene DOID:670 amphetamine abuse ISO RGD:620428 D RGD:9068941 20200609 RGD protein:increased expression:serum, hippocampus: PMID:22871478|REF_RGD_ID:7364944 11694536 CFH complement factor H gene DOID:784 chronic kidney disease ISO RGD:1353869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868 11694536 CFH complement factor H gene DOID:8466 retinal degeneration ISO RGD:620428 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:21467172|REF_RGD_ID:7364947 11694536 CFH complement factor H gene DOID:8893 psoriasis severity ISO RGD:1353869 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:2973157|REF_RGD_ID:8662318 11694536 CFH complement factor H gene DOID:8947 diabetic retinopathy ISO RGD:1353869 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:SNP: :rs1410996(human) PMID:23296223|REF_RGD_ID:7365023 11694536 CFH complement factor H gene DOID:8947 diabetic retinopathy ISO RGD:1353869 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:SNP: :rs800292(human) PMID:23864767|REF_RGD_ID:7365019 11694536 CFH complement factor H gene DOID:9000169 Systemic Inflammatory Response Syndrome ISO RGD:1353869 D RGD:9068941 20200609 RGD PMID:20351616|REF_RGD_ID:5684556 11694536 CFH complement factor H gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:1353869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombotic microangiopathy PMID:25741868|PMID:26283675|PMID:28492532 11694536 CFH complement factor H gene DOID:9000989 Pneumococcal Infections ISO RGD:733427 D RGD:9068941 20210319 RGD PMID:26802141|REF_RGD_ID:108019050 11694536 CFH complement factor H gene DOID:9000989 Pneumococcal Infections exacerbates ISO RGD:1353869 D RGD:9068941 20210319 RGD PMID:26802141|REF_RGD_ID:108019050 11694536 CFH complement factor H gene DOID:9001044 Choroidal Neovascularization ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:SNPs:cds:p.Y402H,I62V(human) PMID:22536038|REF_RGD_ID:7365031 11694536 CFH complement factor H gene DOID:9001044 Choroidal Neovascularization ISO RGD:1353869 D RGD:9068941 20200609 RGD associated with myopia;DNA:SNP: :rs1061170(human) PMID:22678500|REF_RGD_ID:7365030 11694536 CFH complement factor H gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:1353869 D RGD:9068941 20200609 RGD PMID:23258212|REF_RGD_ID:7364943 11694536 CFH complement factor H gene DOID:9001708 Hemorrhagic Shock ISO RGD:620428 D RGD:9068941 20200609 RGD PMID:15973109|REF_RGD_ID:7364990 11694536 CFH complement factor H gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:1353869 D RGD:9068941 20200609 RGD PMID:18403050|PMID:18496585|REF_RGD_ID:11041173|REF_RGD_ID:7364987 11694536 CFH complement factor H gene DOID:9002159 Liver Reperfusion Injury ISO RGD:620428 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver,plasma: PMID:19212187|REF_RGD_ID:7364958 11694536 CFH complement factor H gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:1353869 D RGD:9068941 20200609 RGD PMID:19212187|REF_RGD_ID:7364958 11694536 CFH complement factor H gene DOID:9002457 Experimental Arthritis ISO RGD:733427 D RGD:9068941 20200609 RGD PMID:19828624|REF_RGD_ID:5684557 11694536 CFH complement factor H gene DOID:9002676 Cerebral Hemorrhage severity ISO RGD:1353869 D RGD:9068941 20200609 RGD PMID:21871809|REF_RGD_ID:5684553 11694536 CFH complement factor H gene DOID:9003092 Glomerulonephritis with Isolated C3 Deposits and Factor H Deficiency ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:SNPs,Haplotype:: PMID:17517971|REF_RGD_ID:7364995 11694536 CFH complement factor H gene DOID:9003092 Glomerulonephritis with Isolated C3 Deposits and Factor H Deficiency ISO RGD:733427 D RGD:9068941 20200609 RGD PMID:17517971|REF_RGD_ID:7364995 11694536 CFH complement factor H gene DOID:9004009 Reperfusion Injury ISO RGD:620428 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:17263982|REF_RGD_ID:7364988 11694536 CFH complement factor H gene DOID:9004484 Sepsis ISO RGD:620428 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:20132852|REF_RGD_ID:7364952 11694536 CFH complement factor H gene DOID:9004484 Sepsis treatment ISO RGD:1353869 D RGD:9068941 20200609 RGD PMID:19009024|REF_RGD_ID:7364986 11694536 CFH complement factor H gene DOID:9004484 Sepsis treatment ISO RGD:1353869 D RGD:9068941 20200609 RGD associated with Jaundice,Obstructive; PMID:20132852|REF_RGD_ID:7364952 11694536 CFH complement factor H gene DOID:9004663 Intestinal Ischemia ISO RGD:620428 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:17263982|REF_RGD_ID:7364988 11694536 CFH complement factor H gene DOID:9005036 Bacteremia ISO RGD:1353869 D RGD:9068941 20200609 RGD associated with Meningococcal Infections; PMID:22104107|REF_RGD_ID:7364945 11694536 CFH complement factor H gene DOID:9005377 Complement Factor H Deficiency ISO RGD:1353869 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: C3 GLOMERULOPATHY 1 | ClinVar Annotator: match by term: Factor H deficiency PMID:10206995|PMID:10577907|PMID:10762557|PMID:10803850|PMID:10975323|PMID:11158219|PMID:11978762|PMID:12424708|PMID:12697737|PMID:14978182|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:17018561|PMID:17076561|PMID:17947292|PMID:18235085|PMID:18252712|PMID:19259132|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20301541|PMID:21317894|PMID:21909106|PMID:22019782|PMID:22410797|PMID:23431077|PMID:24036949|PMID:24498017|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26826462|PMID:28492532|PMID:29410599|PMID:29500241|PMID:2950269|PMID:2966809|PMID:29888403|PMID:31447099|PMID:34189567|PMID:7742208|PMID:8072530|PMID:9811382 11694536 CFH complement factor H gene DOID:9005377 Complement Factor H Deficiency susceptibility ISO RGD:1353869 D RGD:7240710 20230517 OMIM 11694536 CFH complement factor H gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:620428 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:20538296|REF_RGD_ID:7364948 11694536 CFH complement factor H gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:1353869 D RGD:9068941 20200609 RGD PMID:20538296|REF_RGD_ID:7364948 11694536 CFH complement factor H gene DOID:9007096 Stroke ISO RGD:620428 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:21695352|REF_RGD_ID:5508764 11694536 CFH complement factor H gene DOID:9007189 Multifocal Choroiditis ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:SNPs, missense mutation:introns, cds:multiple PMID:19001225|REF_RGD_ID:7411728 11694536 CFH complement factor H gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11694536 CFH complement factor H gene DOID:9008366 Meningococcal Infections ISO RGD:1353869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20694013 11694536 CFH complement factor H gene DOID:9008366 Meningococcal Infections exacerbates ISO RGD:1353869 D RGD:9068941 20210319 RGD PMID:19047406|REF_RGD_ID:108019051 11694536 CFH complement factor H gene DOID:9008366 Meningococcal Infections treatment ISO RGD:1353869 D RGD:9068941 20200609 RGD PMID:25143339|REF_RGD_ID:11041174 11694536 CFH complement factor H gene DOID:9008537 Polypoidal Choroidal Vasculopathy no_association ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Y402H (rs1061170) (human) PMID:18515590|REF_RGD_ID:7411726 11694536 CFH complement factor H gene DOID:9008537 Polypoidal Choroidal Vasculopathy susceptibility ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:SNP, missense mutation:promoter, cds:g.-257C>T, p.I62V (rs3753394, rs800292) (human) PMID:18515590|REF_RGD_ID:7411726 11694536 CFH complement factor H gene DOID:9008867 C3 Glomerulopathy 3 ISO RGD:1353869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II PMID:11158219|PMID:11978762|PMID:12424708|PMID:12697737|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16601698|PMID:16619239|PMID:17018561|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252712|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:23431077|PMID:23852337|PMID:24036949|PMID:24498017|PMID:25037630|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26501415|PMID:26559391|PMID:26826462|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29410599|PMID:29500241|PMID:29888403|PMID:30560448|PMID:31447099|PMID:33519811|PMID:8072530|PMID:9536098 11694536 CFH complement factor H gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1353869 D RGD:9068941 20200609 RGD PMID:21637784|REF_RGD_ID:5684554 11694536 CFH complement factor H gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11694560 LOC100972492 olfactory receptor 6X1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1349187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11694560 LOC100972492 olfactory receptor 6X1 gene DOID:5419 schizophrenia ISO RGD:1349187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11694560 LOC100972492 olfactory receptor 6X1 gene DOID:630 genetic disease ISO RGD:1349187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694560 LOC100972492 olfactory receptor 6X1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1349187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11694560 LOC100972492 olfactory receptor 6X1 gene DOID:9007661 Dwarfism ISO RGD:1349187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11694563 NEK3 NIMA related kinase 3 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1316605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11694563 NEK3 NIMA related kinase 3 gene DOID:1059 intellectual disability ISO RGD:1316605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11694563 NEK3 NIMA related kinase 3 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11694563 NEK3 NIMA related kinase 3 gene DOID:630 genetic disease ISO RGD:1316605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694592 LGALS3BP galectin 3 binding protein gene DOID:5082 liver cirrhosis ISO RGD:1352457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 11694592 LGALS3BP galectin 3 binding protein gene DOID:630 genetic disease ISO RGD:1352457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694592 LGALS3BP galectin 3 binding protein gene DOID:9212 pityriasis rubra pilaris ISO RGD:1352457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 11694602 ZNF736 zinc finger protein 736 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:3378506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11694602 ZNF736 zinc finger protein 736 gene DOID:630 genetic disease ISO RGD:3378506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694615 ACSL3 acyl-CoA synthetase long chain family member 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:1602231 D RGD:9068941 20200609 RGD PMID:27270436|REF_RGD_ID:13831303 11694615 ACSL3 acyl-CoA synthetase long chain family member 3 gene DOID:10283 prostate cancer treatment ISO RGD:1602231 D RGD:9068941 20200609 RGD PMID:27270436|REF_RGD_ID:13831303 11694615 ACSL3 acyl-CoA synthetase long chain family member 3 gene DOID:1324 lung cancer ISO RGD:1602231 D RGD:9068941 20200609 RGD PMID:23936004|REF_RGD_ID:13831302 11694615 ACSL3 acyl-CoA synthetase long chain family member 3 gene DOID:1612 breast cancer ISO RGD:1602231 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:23512947|REF_RGD_ID:13831301 11694615 ACSL3 acyl-CoA synthetase long chain family member 3 gene DOID:1612 breast cancer disease_progression ISO RGD:1602231 D RGD:9068941 20200609 RGD DNA:deletion PMID:28977883|REF_RGD_ID:13831299 11694615 ACSL3 acyl-CoA synthetase long chain family member 3 gene DOID:2841 asthma ISO RGD:1602231 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:19221603|REF_RGD_ID:13831295 11694615 ACSL3 acyl-CoA synthetase long chain family member 3 gene DOID:630 genetic disease ISO RGD:1602231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694615 ACSL3 acyl-CoA synthetase long chain family member 3 gene DOID:9002283 Experimental Allergic Asthma ISO RGD:733171 D RGD:9068941 20200609 RGD PMID:23526225|REF_RGD_ID:13831300 11694615 ACSL3 acyl-CoA synthetase long chain family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11694615 ACSL3 acyl-CoA synthetase long chain family member 3 gene DOID:9005372 Inflammation ISO RGD:70552 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:14622223|REF_RGD_ID:2315920 11694615 ACSL3 acyl-CoA synthetase long chain family member 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70552 D RGD:9068941 20200609 RGD PMID:21136146|REF_RGD_ID:13831298 11694615 ACSL3 acyl-CoA synthetase long chain family member 3 gene DOID:9007925 Sudden Cardiac Death disease_progression ISO RGD:1602231 D RGD:9068941 20200609 RGD PMID:22661490|REF_RGD_ID:13831296 11694638 SLC38A11 solute carrier family 38 member 11 gene DOID:1826 epilepsy ISO RGD:1605863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 11694638 SLC38A11 solute carrier family 38 member 11 gene DOID:630 genetic disease ISO RGD:1605863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694656 CNOT11 CCR4-NOT transcription complex subunit 11 gene DOID:630 genetic disease ISO RGD:1348103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694668 C1H1orf146 chromosome 1 C1orf146 homolog gene DOID:630 genetic disease ISO RGD:1603476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694678 ARHGAP33 Rho GTPase activating protein 33 gene DOID:0060041 autism spectrum disorder ISO RGD:1318752 D RGD:9068941 20210430 RGD PMID:25869807|REF_RGD_ID:126848764 11694678 ARHGAP33 Rho GTPase activating protein 33 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1318751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11694678 ARHGAP33 Rho GTPase activating protein 33 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1318751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11694678 ARHGAP33 Rho GTPase activating protein 33 gene DOID:150 disease of mental health ISO RGD:1318752 D RGD:9068941 20210430 RGD PMID:26839058|REF_RGD_ID:11343316 11694678 ARHGAP33 Rho GTPase activating protein 33 gene DOID:3328 temporal lobe epilepsy ISO RGD:1318752 D RGD:9068941 20210430 RGD protein:increased phosphorylation:hippocampus PMID:30996354|REF_RGD_ID:126848765 11694678 ARHGAP33 Rho GTPase activating protein 33 gene DOID:630 genetic disease ISO RGD:1318751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694721 ALDH1B1 aldehyde dehydrogenase 1 family member B1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1315525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29718361 11694721 ALDH1B1 aldehyde dehydrogenase 1 family member B1 gene DOID:13580 cholestasis ISO RGD:1315525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 11694721 ALDH1B1 aldehyde dehydrogenase 1 family member B1 gene DOID:630 genetic disease ISO RGD:1315525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694721 ALDH1B1 aldehyde dehydrogenase 1 family member B1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15650968|PMID:25380136 11694721 ALDH1B1 aldehyde dehydrogenase 1 family member B1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1315525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25641190 11694721 ALDH1B1 aldehyde dehydrogenase 1 family member B1 gene DOID:9005369 Hepatomegaly ISO RGD:1315525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 11694727 GNB2 G protein subunit beta 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11694727 GNB2 G protein subunit beta 2 gene DOID:630 genetic disease ISO RGD:733685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694727 GNB2 G protein subunit beta 2 gene DOID:9001288 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES ISO RGD:733685 D RGD:7240710 20211027 OMIM 11694727 GNB2 G protein subunit beta 2 gene DOID:9001288 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES ISO RGD:733685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and dysmorphic facies PMID:25741868|PMID:31698099|PMID:33971351|PMID:34183358 11694727 GNB2 G protein subunit beta 2 gene DOID:9002070 Sick Sinus Syndrome 4 ISO RGD:733685 D RGD:7240710 20210818 OMIM 11694727 GNB2 G protein subunit beta 2 gene DOID:9002070 Sick Sinus Syndrome 4 ISO RGD:733685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GNB2-related condition | ClinVar Annotator: match by term: Sick sinus syndrome 4 PMID:25741868|PMID:28219978|PMID:31698099|PMID:34183358 11694727 GNB2 G protein subunit beta 2 gene DOID:9005897 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES ISO RGD:733685 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES PMID:25741868 11694727 GNB2 G protein subunit beta 2 gene DOID:9008086 Developmental Disabilities ISO RGD:733685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:33971351 11694727 GNB2 G protein subunit beta 2 gene DOID:9009182 Developmental Delay with or without Dysmorphic Facies and Autism ISO RGD:733685 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay with or without dysmorphic facies and autism PMID:25741868 11694740 KPNB1 karyopherin subunit beta 1 gene DOID:4001 ovarian carcinoma ISO RGD:737037 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 11694740 KPNB1 karyopherin subunit beta 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:737037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11694740 KPNB1 karyopherin subunit beta 1 gene DOID:630 genetic disease ISO RGD:737037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694767 ITGB2 integrin subunit beta 2 gene DOID:0040084 Streptococcus pneumonia susceptibility ISO RGD:1313695 D RGD:9068941 20210709 RGD PMID:11390487|REF_RGD_ID:127345090 11694767 ITGB2 integrin subunit beta 2 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1313694 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 11694767 ITGB2 integrin subunit beta 2 gene DOID:0060180 colitis ISO RGD:1313695 D RGD:9068941 20200609 RGD associated with Spirochaetales infections PMID:11031123|REF_RGD_ID:6482227 11694767 ITGB2 integrin subunit beta 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16764927 11694767 ITGB2 integrin subunit beta 2 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1313694 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11694767 ITGB2 integrin subunit beta 2 gene DOID:0110266 cataract 9 multiple types ISO RGD:1313694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11694767 ITGB2 integrin subunit beta 2 gene DOID:0110910 leukocyte adhesion deficiency 1 ISO RGD:1313694 D RGD:7240710 20180130 OMIM 11694767 ITGB2 integrin subunit beta 2 gene DOID:0110910 leukocyte adhesion deficiency 1 ISO RGD:1313694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 PMID:10886250|PMID:11703376|PMID:11882363|PMID:12377933|PMID:12488604|PMID:1346132|PMID:1346613|PMID:1347532|PMID:1590804|PMID:16199547|PMID:16595236|PMID:1694220|PMID:17576681|PMID:17875809|PMID:18675632|PMID:19171538|PMID:1968911|PMID:20549317|PMID:20807363|PMID:21103413|PMID:21195692|PMID:22134107|PMID:24033266|PMID:24338230|PMID:25135596|PMID:25514840|PMID:25703682|PMID:25741868|PMID:25858935|PMID:26497373|PMID:26639818|PMID:27492259|PMID:28445705|PMID:28492532|PMID:30412664|PMID:30919141|PMID:32279896|PMID:33391282|PMID:36353617|PMID:6142255|PMID:7143170|PMID:7686755|PMID:7705401|PMID:9536098|PMID:9884339 11694767 ITGB2 integrin subunit beta 2 gene DOID:0110910 leukocyte adhesion deficiency 1 susceptibility ISO RGD:1313694 D RGD:9068941 20210702 RGD DNA:polymorphisms:multiple (human) PMID:20549317|REF_RGD_ID:6482224 11694767 ITGB2 integrin subunit beta 2 gene DOID:10952 nephritis treatment ISO RGD:1305581 D RGD:9068941 20200609 RGD PMID:8773354|REF_RGD_ID:8547716 11694767 ITGB2 integrin subunit beta 2 gene DOID:1205 allergic disease ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11694767 ITGB2 integrin subunit beta 2 gene DOID:12297 Vogt-Koyanagi-Harada disease ISO RGD:1313694 D RGD:9068941 20200609 RGD protein:decreased expression:T cell PMID:21297967|REF_RGD_ID:6482200 11694767 ITGB2 integrin subunit beta 2 gene DOID:12849 autistic disorder ISO RGD:1313694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11694767 ITGB2 integrin subunit beta 2 gene DOID:13241 Behcet's disease ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8712863 11694767 ITGB2 integrin subunit beta 2 gene DOID:182 calcinosis ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11694767 ITGB2 integrin subunit beta 2 gene DOID:2527 nephrosis ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12845231 11694767 ITGB2 integrin subunit beta 2 gene DOID:2723 dermatitis ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9653089 11694767 ITGB2 integrin subunit beta 2 gene DOID:2921 glomerulonephritis ISO RGD:1313695 D RGD:9068941 20200609 RGD PMID:15277234|PMID:19752320|REF_RGD_ID:6907051|REF_RGD_ID:6907066 11694767 ITGB2 integrin subunit beta 2 gene DOID:4079 heart valve disease ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11694767 ITGB2 integrin subunit beta 2 gene DOID:4247 coronary restenosis ISO RGD:1313694 D RGD:9068941 20200609 RGD PMID:11703955|REF_RGD_ID:1581185 11694767 ITGB2 integrin subunit beta 2 gene DOID:4481 allergic rhinitis treatment ISO RGD:1305581 D RGD:9068941 20210709 RGD PMID:12046991|REF_RGD_ID:9698435 11694767 ITGB2 integrin subunit beta 2 gene DOID:4989 pancreatitis ISO RGD:1313695 D RGD:9068941 20200609 RGD PMID:22490516|REF_RGD_ID:6482196 11694767 ITGB2 integrin subunit beta 2 gene DOID:552 pneumonia ISO RGD:1305581 D RGD:9068941 20200609 RGD PMID:10030843|REF_RGD_ID:6482228 11694767 ITGB2 integrin subunit beta 2 gene DOID:552 pneumonia ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11694767 ITGB2 integrin subunit beta 2 gene DOID:630 genetic disease ISO RGD:1313694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10886250|PMID:11703376|PMID:12488604|PMID:1346132|PMID:17875809|PMID:22134107|PMID:25514840|PMID:25703682|PMID:25741868|PMID:28492532|PMID:30412664|PMID:7143170|PMID:7686755|PMID:7705401 11694767 ITGB2 integrin subunit beta 2 gene DOID:6612 leukocyte adhesion deficiency ISO RGD:1313694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 11694767 ITGB2 integrin subunit beta 2 gene DOID:820 myocarditis ISO RGD:1313694 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9556870|REF_RGD_ID:13702915 11694767 ITGB2 integrin subunit beta 2 gene DOID:8283 peritonitis ameliorates ISO RGD:620535 D RGD:9068941 20210709 RGD PMID:18239087|REF_RGD_ID:127345091 11694767 ITGB2 integrin subunit beta 2 gene DOID:8549 chronic ulcer of skin ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9653089 11694767 ITGB2 integrin subunit beta 2 gene DOID:8893 psoriasis ISO RGD:1313695 D RGD:9068941 20200609 RGD PMID:19812597|REF_RGD_ID:6482221 11694767 ITGB2 integrin subunit beta 2 gene DOID:8893 psoriasis ISO RGD:1313695 D RGD:9068941 20220825 MouseDO OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106 11694767 ITGB2 integrin subunit beta 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1313694 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11694767 ITGB2 integrin subunit beta 2 gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:1313694 D RGD:9068941 20200609 RGD mRNA:increased expression:artery PMID:26188538|REF_RGD_ID:11085957 11694767 ITGB2 integrin subunit beta 2 gene DOID:9000509 Epstein-Barr Virus Infections ISO RGD:1313694 D RGD:9068941 20210702 RGD associated with Hodgkin's lymphoma;mRNA, protein:increased expression:lymph node (human) PMID:25041527|REF_RGD_ID:127285814 11694767 ITGB2 integrin subunit beta 2 gene DOID:9001004 Chronic Periodontitis ISO RGD:1313694 D RGD:9068941 20200609 RGD mRNA:increased expression:gingival tissues PMID:21382035|REF_RGD_ID:6480655 11694767 ITGB2 integrin subunit beta 2 gene DOID:9001341 Chloracne ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 11694767 ITGB2 integrin subunit beta 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11694767 ITGB2 integrin subunit beta 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:1313695 D RGD:9068941 20200609 RGD PMID:11907109|REF_RGD_ID:6907072 11694767 ITGB2 integrin subunit beta 2 gene DOID:9002457 Experimental Arthritis ISO RGD:1305581 D RGD:9068941 20200609 RGD PMID:8881759|REF_RGD_ID:6482229 11694767 ITGB2 integrin subunit beta 2 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1313695 D RGD:9068941 20200609 RGD PMID:18615643|REF_RGD_ID:6482197 11694767 ITGB2 integrin subunit beta 2 gene DOID:9002805 Enterocolitis ISO RGD:1313694 D RGD:9068941 20200609 RGD associated with Hirschsprung Disease;DNA:polymorphisms:multiple PMID:18675632|REF_RGD_ID:6482226 11694767 ITGB2 integrin subunit beta 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11694767 ITGB2 integrin subunit beta 2 gene DOID:9004610 Acute Lung Injury ISO RGD:1305581 D RGD:9068941 20200609 RGD PMID:1374449|REF_RGD_ID:6482199 11694767 ITGB2 integrin subunit beta 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1305581 D RGD:9068941 20200609 RGD PMID:11007822|REF_RGD_ID:6907073 11694767 ITGB2 integrin subunit beta 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1313694 D RGD:9068941 20200609 RGD Associated with renal transplant patients PMID:20504838|REF_RGD_ID:6907049 11694767 ITGB2 integrin subunit beta 2 gene DOID:9007502 Brain Neoplasms ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 11694767 ITGB2 integrin subunit beta 2 gene DOID:9009184 Eosinophilic Myocarditis treatment ISO RGD:1313695 D RGD:9068941 20200609 RGD PMID:9822282|REF_RGD_ID:13702914 11694767 ITGB2 integrin subunit beta 2 gene DOID:9065 leishmaniasis ameliorates ISO RGD:1313695 D RGD:9068941 20210702 RGD PMID:14502280|REF_RGD_ID:127285813 11694767 ITGB2 integrin subunit beta 2 gene DOID:9263 homocystinuria ISO RGD:1313694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11694767 ITGB2 integrin subunit beta 2 gene DOID:9498 pulmonary eosinophilia ISO RGD:1313695 D RGD:9068941 20210709 RGD protein:increased expression:lung (mouse) PMID:7743671|REF_RGD_ID:8547590 11694767 ITGB2 integrin subunit beta 2 gene DOID:9500 leukocyte disease ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2880869|PMID:9653089 11694767 ITGB2 integrin subunit beta 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313694 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11694787 WNT9A Wnt family member 9A gene DOID:1540 parathyroid carcinoma ISO RGD:1312797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11694787 WNT9A Wnt family member 9A gene DOID:1612 breast cancer ISO RGD:1312797 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor, cell line:up-regulated in 1/9 primary breast tumors and 2/3 breast cancer cell lines (T-47D, MCF-7) PMID:11713592|REF_RGD_ID:2299944 11694787 WNT9A Wnt family member 9A gene DOID:1793 pancreatic cancer ISO RGD:1312797 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:18772397|REF_RGD_ID:5490966 11694787 WNT9A Wnt family member 9A gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1312797 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 11694787 WNT9A Wnt family member 9A gene DOID:630 genetic disease ISO RGD:1312797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694787 WNT9A Wnt family member 9A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11694794 PLVAP plasmalemma vesicle associated protein gene DOID:630 genetic disease ISO RGD:1353643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11694794 PLVAP plasmalemma vesicle associated protein gene DOID:684 hepatocellular carcinoma ISO RGD:1353643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11694794 PLVAP plasmalemma vesicle associated protein gene DOID:9008956 DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE ISO RGD:1353643 D RGD:7240710 20190315 OMIM 11694794 PLVAP plasmalemma vesicle associated protein gene DOID:9008956 DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE ISO RGD:1353643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diarrhea 10, protein-losing enteropathy type PMID:26207260|PMID:29661969|PMID:29875123 11694804 VCPIP1 valosin containing protein interacting protein 1 gene DOID:3911 progeria ISO RGD:1552825 D RGD:9068941 20220825 MouseDO OMIM:176670 11694804 VCPIP1 valosin containing protein interacting protein 1 gene DOID:630 genetic disease ISO RGD:1604797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694811 TTC28 tetratricopeptide repeat domain 28 gene DOID:630 genetic disease ISO RGD:1601773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11694811 TTC28 tetratricopeptide repeat domain 28 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1601773 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11694849 CATSPERZ catsper channel auxiliary subunit zeta gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:2302458 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11694849 CATSPERZ catsper channel auxiliary subunit zeta gene DOID:1059 intellectual disability ISO RGD:2302458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11694849 CATSPERZ catsper channel auxiliary subunit zeta gene DOID:3070 high grade glioma ISO RGD:2302458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11694849 CATSPERZ catsper channel auxiliary subunit zeta gene DOID:630 genetic disease ISO RGD:2302458 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694873 CCDC134 coiled-coil domain containing 134 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1605621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11694873 CCDC134 coiled-coil domain containing 134 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1605621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11694873 CCDC134 coiled-coil domain containing 134 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1605621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 11694873 CCDC134 coiled-coil domain containing 134 gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:1605621 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Severe progressive deforming recessive osteogenesis imperfecta (type III) PMID:25741868|PMID:32181939|PMID:34204301|PMID:35019224 11694873 CCDC134 coiled-coil domain containing 134 gene DOID:630 genetic disease ISO RGD:1605621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694873 CCDC134 coiled-coil domain containing 134 gene DOID:9001928 Osteogenesis Imperfecta Type 22 ISO RGD:1605621 D RGD:7240710 20220406 OMIM 11694873 CCDC134 coiled-coil domain containing 134 gene DOID:9001928 Osteogenesis Imperfecta Type 22 ISO RGD:1605621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type XXII PMID:25741868|PMID:32181939|PMID:34204301|PMID:35019224 11694873 CCDC134 coiled-coil domain containing 134 gene DOID:9002589 Bone Fractures ISO RGD:1605621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent fractures PMID:25741868|PMID:32181939|PMID:34204301|PMID:35019224 11694873 CCDC134 coiled-coil domain containing 134 gene DOID:9007188 Liver Neoplasms ISO RGD:1605621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11694890 CPLX2 complexin 2 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:732283 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11694890 CPLX2 complexin 2 gene DOID:0112103 Sotos syndrome 1 ISO RGD:732283 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11694890 CPLX2 complexin 2 gene DOID:2468 psychotic disorder ISO RGD:732283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 11694890 CPLX2 complexin 2 gene DOID:3312 bipolar disorder ISO RGD:732283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 11694890 CPLX2 complexin 2 gene DOID:5419 schizophrenia ISO RGD:732283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11483314|PMID:14708030 11694890 CPLX2 complexin 2 gene DOID:5419 schizophrenia ISO RGD:732284 D RGD:9068941 20220825 MouseDO OMIM:181500 11694905 TMCO3 transmembrane and coiled-coil domains 3 gene DOID:2222 factor X deficiency ISO RGD:1315285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 11694905 TMCO3 transmembrane and coiled-coil domains 3 gene DOID:630 genetic disease ISO RGD:1315285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694930 CBFB core-binding factor subunit beta gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1320589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11694930 CBFB core-binding factor subunit beta gene DOID:0080006 bone development disease ISO RGD:1320589 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:17022082 11694930 CBFB core-binding factor subunit beta gene DOID:0081082 acute myelomonocytic leukemia ISO RGD:1320589 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:10958941 11694930 CBFB core-binding factor subunit beta gene DOID:0081082 acute myelomonocytic leukemia susceptibility ISO RGD:1320589 D RGD:9068941 20200611 RGD DNA:inversion: :inv(16)(p13q22) PMID:8351518|REF_RGD_ID:1599543 11694930 CBFB core-binding factor subunit beta gene DOID:0110255 cataract 5 multiple types ISO RGD:1320589 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 11694930 CBFB core-binding factor subunit beta gene DOID:1682 congenital heart disease ISO RGD:1320589 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:17022082 11694930 CBFB core-binding factor subunit beta gene DOID:630 genetic disease ISO RGD:1320589 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694930 CBFB core-binding factor subunit beta gene DOID:674 cleft palate ISO RGD:1320589 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:17022082 11694930 CBFB core-binding factor subunit beta gene DOID:684 hepatocellular carcinoma ISO RGD:1320589 D RGD:9068941 20210409 RGD mRNA:decreased expression:liver PMID:17094378|REF_RGD_ID:126775147 11694930 CBFB core-binding factor subunit beta gene DOID:9003295 Heterotopic Ossification ISO RGD:1320589 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:17022082 11694930 CBFB core-binding factor subunit beta gene DOID:9006628 Cleidocranial Dysplasia 2 ISO RGD:1320589 D RGD:7240710 20221102 OMIM 11694930 CBFB core-binding factor subunit beta gene DOID:9006628 Cleidocranial Dysplasia 2 ISO RGD:1320589 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cleidocranial dysplasia 2 PMID:25741868|PMID:36241386 11694930 CBFB core-binding factor subunit beta gene DOID:9119 acute myeloid leukemia ISO RGD:1320589 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:25741868|PMID:36241386 11694935 IRS4 insulin receptor substrate 4 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1352224 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 11694935 IRS4 insulin receptor substrate 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11694935 IRS4 insulin receptor substrate 4 gene DOID:0111835 congenital nongoitrous hypothyroidism 9 ISO RGD:1352224 D RGD:7240710 20191002 OMIM 11694935 IRS4 insulin receptor substrate 4 gene DOID:0111835 congenital nongoitrous hypothyroidism 9 ISO RGD:1352224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 9 PMID:25741868|PMID:30061370 11694935 IRS4 insulin receptor substrate 4 gene DOID:12849 autistic disorder ISO RGD:1352224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11694935 IRS4 insulin receptor substrate 4 gene DOID:1324 lung cancer treatment ISO RGD:1352224 D RGD:9068941 20220210 RGD human cells in mouse model PMID:33894221|REF_RGD_ID:151347872 11694935 IRS4 insulin receptor substrate 4 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352224 D RGD:9068941 20220210 RGD protein:increased expression:lung (human) PMID:33894221|REF_RGD_ID:151347872 11694935 IRS4 insulin receptor substrate 4 gene DOID:630 genetic disease ISO RGD:1352224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694935 IRS4 insulin receptor substrate 4 gene DOID:9256 colorectal cancer ISO RGD:1352224 D RGD:9068941 20220210 RGD protein:increased expression:colorectum (human) PMID:29353348|REF_RGD_ID:151347867 11694935 IRS4 insulin receptor substrate 4 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1352224 D RGD:9068941 20220210 RGD protein:increased expression:colorectal mucosa (human) PMID:29185229|REF_RGD_ID:151347868 11694935 IRS4 insulin receptor substrate 4 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1352224 D RGD:9068941 20220210 RGD protein:increased expression:colorectum (human) PMID:30410539|REF_RGD_ID:151347869 11694940 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:0050700 cardiomyopathy ISO RGD:730888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21037199 11694940 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:10603 glucose intolerance ISO RGD:730888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19934007 11694940 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:10603 glucose intolerance ISO RGD:730889 D RGD:9068941 20200609 RGD PMID:12511592|REF_RGD_ID:1302556 11694940 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:10779 septic myocarditis treatment ISO RGD:730889 D RGD:9068941 20201008 RGD PMID:27621180|REF_RGD_ID:39456138 11694940 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:14069 cerebral malaria ISO RGD:730889 D RGD:9068941 20201008 RGD mRNA:decreased expression:brain (mouse) PMID:29107705|REF_RGD_ID:39456137 11694940 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:630 genetic disease ISO RGD:730888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694940 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:730888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29753072 11694940 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9002189 High Myopia ISO RGD:730888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11694940 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9003936 Cardiomegaly ISO RGD:730888 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18812163 11694940 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9007096 Stroke ISO RGD:730888 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20847317 11694940 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9007692 Insulin Resistance ISO RGD:730888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19934007 11694940 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:730888 D RGD:9068941 20200609 RGD DNA:SNPs PMID:16567511|REF_RGD_ID:1625266 11694940 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:730888 D RGD:9068941 20200609 RGD DNA:SNPs PMID:16567511|REF_RGD_ID:1625266 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:731036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:33200460 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:0050700 cardiomyopathy ISO RGD:731036 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17008600 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:0050852 limb ischemia treatment ISO RGD:2062 D RGD:9068941 20200609 RGD PMID:26604244|REF_RGD_ID:13514042 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:1059 intellectual disability ISO RGD:731036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:10762 portal hypertension ISO RGD:2062 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell, liver sinusoid PMID:16142243|REF_RGD_ID:1580269 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:10762 portal hypertension treatment ISO RGD:2062 D RGD:9068941 20200609 RGD PMID:25469036|REF_RGD_ID:13514048 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:10763 hypertension ISO RGD:2062 D RGD:9068941 20200609 RGD protein:increased expression:lymphocyte, vascular associated smooth muscle cell PMID:10642272|REF_RGD_ID:1625788 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:10763 hypertension ISO RGD:731036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11901213 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:10763 hypertension treatment ISO RGD:2062 D RGD:9068941 20200609 RGD PMID:23913704|REF_RGD_ID:13792716 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:1287 cardiovascular system disease ISO RGD:731036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26032411 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:14115 toxic shock syndrome ISO RGD:731036 D RGD:9068941 20210507 RGD mRNA:decreased expression:polymorphonuclear leukocyte PMID:24465168|REF_RGD_ID:126848796 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:14330 Parkinson's disease ISO RGD:2062 D RGD:9068941 20200609 RGD Protein: decreased expression: brain PMID:17996024|REF_RGD_ID:5685370 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:1875 impotence ISO RGD:2062 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:30226217|REF_RGD_ID:13792691 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:3042 allergic contact dermatitis ISO RGD:731036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:3829 pituitary adenoma ISO RGD:731036 D RGD:9068941 20200609 RGD mRNA:altered expression:pituitary gland (human) PMID:24169548|REF_RGD_ID:13792706 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:4195 hyperglycemia ISO RGD:2062 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16478977|REF_RGD_ID:1625789 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:5082 liver cirrhosis ISO RGD:731036 D RGD:9068941 20200609 RGD associated with hepatitis B;protein:increased expression:mesenteric artery (human) PMID:23742775|REF_RGD_ID:13792718 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:6000 congestive heart failure ISO RGD:10111 D RGD:9068941 20200609 RGD PMID:11331748|REF_RGD_ID:737776 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:6000 congestive heart failure ISO RGD:2062 D RGD:9068941 20200609 RGD associated with Hypertrophy, Left Ventricular and Hypertension;protein:increased expression, increased activity:heart left ventricle, cytosol (rat) PMID:9931137|REF_RGD_ID:1625790 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:6000 congestive heart failure ISO RGD:731036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:6000 congestive heart failure ISO RGD:731036 D RGD:9068941 20200609 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:26248277|REF_RGD_ID:11535540 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:6000 congestive heart failure treatment ISO RGD:2062 D RGD:9068941 20200609 RGD PMID:29247373|REF_RGD_ID:13506830 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:630 genetic disease ISO RGD:731036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:10111 D RGD:9068941 20200609 RGD DNA: deletion: : heterozygous PMID:18662895|REF_RGD_ID:5688373 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:731036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10094932 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:731036 D RGD:9068941 20200609 RGD protein: decreased expression: mononuclear leukocytes PMID:10094932|REF_RGD_ID:5688380 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:874 bacterial pneumonia ISO RGD:731036 D RGD:9068941 20210507 RGD mRNA:decreased expression:polymorphonuclear leukocyte PMID:24465168|REF_RGD_ID:126848796 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9000352 Vascular System Injuries ISO RGD:2062 D RGD:9068941 20200609 RGD protein:increased expression:aorta (rat) PMID:28653218|REF_RGD_ID:13513975 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2062 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:17256744|REF_RGD_ID:1625784 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2062 D RGD:9068941 20200609 RGD PMID:23196710|REF_RGD_ID:13792785 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9002211 Hyperalgesia severity ISO RGD:2062 D RGD:9068941 20200609 RGD PMID:22796071|REF_RGD_ID:13792780 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9002211 Hyperalgesia treatment ISO RGD:2062 D RGD:9068941 20200609 RGD PMID:26064176|REF_RGD_ID:13514046 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9002211 Hyperalgesia treatment ISO RGD:2062 D RGD:9068941 20200609 RGD associated with Complex Regional Pain Syndromes PMID:25466829|REF_RGD_ID:13514049 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9002211 Hyperalgesia treatment ISO RGD:2062 D RGD:9068941 20200609 RGD associated with bone cancer PMID:26935064|REF_RGD_ID:13513996 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:2062 D RGD:9068941 20200609 RGD PMID:30024944|REF_RGD_ID:13792695 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9002457 Experimental Arthritis ISO RGD:2062 D RGD:9068941 20200609 RGD protein:increased expression:aorta (rat) PMID:28653218|REF_RGD_ID:13513975 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9002457 Experimental Arthritis disease_progression ISO RGD:2062 D RGD:9068941 20200609 RGD protein:altered expression:T cell (rat) PMID:28349925|REF_RGD_ID:13513979 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2062 D RGD:9068941 20200609 RGD PMID:28631356|REF_RGD_ID:13513976 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:731036 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9003936 Cardiomegaly ISO RGD:10111 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle (mouse) PMID:23969695|REF_RGD_ID:13792712 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9003936 Cardiomegaly ISO RGD:731036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11901213 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9003936 Cardiomegaly severity ISO RGD:10111 D RGD:9068941 20200609 RGD PMID:25982117|REF_RGD_ID:11052788 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9004484 Sepsis ISO RGD:731036 D RGD:9068941 20200609 RGD protein: increased expression: neutrophils PMID:16849637|REF_RGD_ID:5688378 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:10111 D RGD:9068941 20200609 RGD PMID:9618528|REF_RGD_ID:737775 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:731036 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:lymphocyte PMID:15097244|REF_RGD_ID:1625786 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9004616 Left Ventricular Hypertrophy severity ISO RGD:10111 D RGD:9068941 20200609 RGD PMID:28759639|REF_RGD_ID:13513977 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:2062 D RGD:9068941 20200609 RGD PMID:26224342|REF_RGD_ID:11534182 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9004994 Embryo Loss ISO RGD:731036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17008600 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731036 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex (human) PMID:23727505|REF_RGD_ID:13792719 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9005835 Congenital Abnormalities ISO RGD:731036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17008600 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9005968 Neuralgia treatment ISO RGD:2062 D RGD:9068941 20200609 RGD PMID:24216329|REF_RGD_ID:13792703 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:2062 D RGD:9068941 20200609 RGD protein:increased activity:heart right ventricel (rat) PMID:23124027|REF_RGD_ID:13792786 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9006202 Pruritus severity ISO RGD:10111 D RGD:9068941 20200609 RGD PMID:29530536|REF_RGD_ID:13513974 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9007692 Insulin Resistance ISO RGD:10111 D RGD:9068941 20200609 RGD PMID:15994203|REF_RGD_ID:1625791 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9007730 Burns ISO RGD:2062 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle (rat) PMID:29232706|REF_RGD_ID:13506829 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:10111 D RGD:9068941 20200609 RGD protein:increased expression:heart, mitochondrion (mouse) PMID:23467820|REF_RGD_ID:13792779 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9007838 Myocardial Reperfusion Injury severity ISO RGD:10111 D RGD:9068941 20200609 RGD PMID:24170934|REF_RGD_ID:13792704 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9007838 Myocardial Reperfusion Injury susceptibility ISO RGD:10111 D RGD:9068941 20200609 RGD PMID:27601479|REF_RGD_ID:13513993 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2062 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:27865836|REF_RGD_ID:13513990 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2062 D RGD:9068941 20200609 RGD associated with Hypertension PMID:27296507|REF_RGD_ID:13513995 11694955 GRK2 G protein-coupled receptor kinase 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:731036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11694981 CST5 cystatin D gene DOID:630 genetic disease ISO RGD:1322184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11694988 C12H12orf60 chromosome 12 C12orf60 homolog gene DOID:0060296 congenital secretory chloride diarrhea 1 ISO RGD:1606152 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE PMID:25741868|PMID:28492532 11694988 C12H12orf60 chromosome 12 C12orf60 homolog gene DOID:0060780 congenital diarrhea 6 ISO RGD:1606152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital diarrhea 6 PMID:22436048|PMID:24033266|PMID:25741868|PMID:28492532 11694988 C12H12orf60 chromosome 12 C12orf60 homolog gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1606152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 11694988 C12H12orf60 chromosome 12 C12orf60 homolog gene DOID:0080216 duodenal atresia ISO RGD:1606152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Duodenal atresia 11694988 C12H12orf60 chromosome 12 C12orf60 homolog gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1606152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 11694988 C12H12orf60 chromosome 12 C12orf60 homolog gene DOID:0110892 inflammatory bowel disease 1 ISO RGD:1606152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 PMID:25741868 11694988 C12H12orf60 chromosome 12 C12orf60 homolog gene DOID:630 genetic disease ISO RGD:1606152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11694988 C12H12orf60 chromosome 12 C12orf60 homolog gene DOID:8778 Crohn's disease ISO RGD:1606152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 PMID:25741868 11694988 C12H12orf60 chromosome 12 C12orf60 homolog gene DOID:9006465 Meconium Ileus ISO RGD:1606152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | ClinVar Annotator: match by term: Meconium ileus PMID:22521417|PMID:24033266|PMID:25370039|PMID:25741868|PMID:28492532|PMID:33223529|PMID:4006357 11694988 C12H12orf60 chromosome 12 C12orf60 homolog gene DOID:9008737 VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS ISO RGD:1606152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vertebral, cardiac, tracheoesophageal, renal, and limb defects | ClinVar Annotator: match by term: WBP11 spliceosomopathy PMID:25741868|PMID:33276377 11695004 MS4A6A membrane spanning 4-domains A6A gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1323386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11695004 MS4A6A membrane spanning 4-domains A6A gene DOID:1059 intellectual disability ISO RGD:1323386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11695004 MS4A6A membrane spanning 4-domains A6A gene DOID:2986 IgA glomerulonephritis ISO RGD:1323386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 11695004 MS4A6A membrane spanning 4-domains A6A gene DOID:630 genetic disease ISO RGD:1323386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11695004 MS4A6A membrane spanning 4-domains A6A gene DOID:9775 diastolic heart failure ISO RGD:1323386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 11695054 PAQR7 progestin and adipoQ receptor family member 7 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1606437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 11695054 PAQR7 progestin and adipoQ receptor family member 7 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1606437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 11695054 PAQR7 progestin and adipoQ receptor family member 7 gene DOID:630 genetic disease ISO RGD:1606437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11695096 CEP350 centrosomal protein 350 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1605105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 11695096 CEP350 centrosomal protein 350 gene DOID:1540 parathyroid carcinoma ISO RGD:1605105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11695096 CEP350 centrosomal protein 350 gene DOID:630 genetic disease ISO RGD:1605105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11695096 CEP350 centrosomal protein 350 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1605105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11695096 CEP350 centrosomal protein 350 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11695138 P3H3 prolyl 3-hydroxylase 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1313881 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11695138 P3H3 prolyl 3-hydroxylase 3 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1313881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11695138 P3H3 prolyl 3-hydroxylase 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1313881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11695138 P3H3 prolyl 3-hydroxylase 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1313881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11695138 P3H3 prolyl 3-hydroxylase 3 gene DOID:0111621 Temtamy syndrome ISO RGD:1313881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11695138 P3H3 prolyl 3-hydroxylase 3 gene DOID:630 genetic disease ISO RGD:1313881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11695138 P3H3 prolyl 3-hydroxylase 3 gene DOID:8398 osteoarthritis ISO RGD:1313881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11695138 P3H3 prolyl 3-hydroxylase 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1313881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11695157 MFAP4 microfibril associated protein 4 gene DOID:0050777 Joubert syndrome ISO RGD:1317270 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11695157 MFAP4 microfibril associated protein 4 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1317270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 11695157 MFAP4 microfibril associated protein 4 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1317270 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 11695157 MFAP4 microfibril associated protein 4 gene DOID:12849 autistic disorder ISO RGD:1317270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11695157 MFAP4 microfibril associated protein 4 gene DOID:630 genetic disease ISO RGD:1317270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11695157 MFAP4 microfibril associated protein 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11695157 MFAP4 microfibril associated protein 4 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1317270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 11695170 RPS23 ribosomal protein S23 gene DOID:9003486 Brachycephaly, Trichomegaly, and Developmental Delay ISO RGD:1343302 D RGD:7240710 20190315 OMIM 11695170 RPS23 ribosomal protein S23 gene DOID:9003486 Brachycephaly, Trichomegaly, and Developmental Delay ISO RGD:1343302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachycephaly, trichomegaly, and developmental delay PMID:25741868|PMID:28257692 11695170 RPS23 ribosomal protein S23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11695179 NHLRC4 NHL repeat containing 4 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1602637 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11695179 NHLRC4 NHL repeat containing 4 gene DOID:1826 epilepsy ISO RGD:1602637 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 11695179 NHLRC4 NHL repeat containing 4 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1602637 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11695179 NHLRC4 NHL repeat containing 4 gene DOID:630 genetic disease ISO RGD:1602637 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11695187 TEX47 testis expressed 47 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11695207 ASPG asparaginase gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1344860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11695207 ASPG asparaginase gene DOID:10211 cholelithiasis ISO RGD:1344860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12902918 11695207 ASPG asparaginase gene DOID:11755 choledocholithiasis ISO RGD:1344860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12902918 11695207 ASPG asparaginase gene DOID:1588 thrombocytopenia ISO RGD:1344860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2187653 11695207 ASPG asparaginase gene DOID:2355 anemia ISO RGD:1344860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2187653 11695207 ASPG asparaginase gene DOID:615 leukopenia ISO RGD:1344860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2187653 11695207 ASPG asparaginase gene DOID:630 genetic disease ISO RGD:1344860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11695207 ASPG asparaginase gene DOID:684 hepatocellular carcinoma ISO RGD:1344860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11695207 ASPG asparaginase gene DOID:9000363 Hematuria ISO RGD:1344860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2187653 11695207 ASPG asparaginase gene DOID:9000972 Fever ISO RGD:1344860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2187653 11695207 ASPG asparaginase gene DOID:9007278 Anaphylaxis ISO RGD:1344860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:65671 11695207 ASPG asparaginase gene DOID:9008385 Vomiting ISO RGD:1344860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2187653 11695231 TNFAIP8L1 TNF alpha induced protein 8 like 1 gene DOID:630 genetic disease ISO RGD:1603272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11695241 CCN6 cellular communication network factor 6 gene DOID:0090004 progressive pseudorheumatoid arthropathy of childhood ISO RGD:1345324 D RGD:7240710 20180130 OMIM 11695241 CCN6 cellular communication network factor 6 gene DOID:0090004 progressive pseudorheumatoid arthropathy of childhood ISO RGD:1345324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive pseudorheumatoid dysplasia PMID:10471507|PMID:16152649|PMID:21528827|PMID:21993478|PMID:22791401|PMID:22987568|PMID:23270760|PMID:23424195|PMID:25738435|PMID:25741868|PMID:25794430|PMID:25988854|PMID:27291587|PMID:27436824|PMID:28210640|PMID:28492532|PMID:29092958|PMID:29258992|PMID:30408610|PMID:32382396|PMID:34008892 11695241 CCN6 cellular communication network factor 6 gene DOID:381 arthropathy ISO RGD:1345324 D RGD:9068941 20200609 RGD PPAC, OMIM:208230 PMID:10471507|REF_RGD_ID:1599850 11695241 CCN6 cellular communication network factor 6 gene DOID:4680 breast metaplastic carcinoma ISO RGD:1622848 D RGD:9068941 20220825 MouseDO 11695241 CCN6 cellular communication network factor 6 gene DOID:630 genetic disease ISO RGD:1345324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22791401|PMID:22987568|PMID:23270760|PMID:23424195|PMID:25741868|PMID:25988854|PMID:27436824 11695262 SLC7A1 solute carrier family 7 member 1 gene DOID:630 genetic disease ISO RGD:736349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11695262 SLC7A1 solute carrier family 7 member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11695262 SLC7A1 solute carrier family 7 member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11401523 11695285 STAC SH3 and cysteine rich domain gene DOID:3042 allergic contact dermatitis ISO RGD:1313960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 11695285 STAC SH3 and cysteine rich domain gene DOID:630 genetic disease ISO RGD:1313960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11695315 HAP1 huntingtin associated protein 1 gene DOID:12858 Huntington's disease ISO RGD:68455 D RGD:9068941 20200609 RGD PMID:22402331|PMID:24324398|REF_RGD_ID:10401859|REF_RGD_ID:13432577 11695315 HAP1 huntingtin associated protein 1 gene DOID:12858 Huntington's disease no_association ISO RGD:68454 D RGD:9068941 20200609 RGD DNA:SNP: :p.T441M (human) PMID:22698993|REF_RGD_ID:13432576 11695315 HAP1 huntingtin associated protein 1 gene DOID:12858 Huntington's disease no_association ISO RGD:68454 D RGD:9068941 20200609 RGD DNA:SNP: :rs4523977 (human) PMID:26000918|REF_RGD_ID:13432579 11695315 HAP1 huntingtin associated protein 1 gene DOID:12858 Huntington's disease no_association ISO RGD:68454 D RGD:9068941 20200609 RGD DNA:SNP:multiple PMID:18192679|REF_RGD_ID:13432575 11695315 HAP1 huntingtin associated protein 1 gene DOID:12858 Huntington's disease onset ISO RGD:68454 D RGD:9068941 20200609 RGD DNA:SNP: :p.T441M (human) PMID:18192679|PMID:20512606|REF_RGD_ID:13432575|REF_RGD_ID:13432578 11695315 HAP1 huntingtin associated protein 1 gene DOID:1595 melancholic depression ISO RGD:68455 D RGD:9068941 20220825 MouseDO OMIM:608516 11695315 HAP1 huntingtin associated protein 1 gene DOID:374 nutrition disease ISO RGD:68455 D RGD:9068941 20200609 RGD PMID:11971876|REF_RGD_ID:1302538 11695315 HAP1 huntingtin associated protein 1 gene DOID:630 genetic disease ISO RGD:68454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11695315 HAP1 huntingtin associated protein 1 gene DOID:9007993 Dehydration ISO RGD:68455 D RGD:9068941 20200609 RGD PMID:11971876|REF_RGD_ID:1302538 11695335 PTPRB protein tyrosine phosphatase receptor type B gene DOID:0001816 angiosarcoma ISO RGD:1314242 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24633157 11695335 PTPRB protein tyrosine phosphatase receptor type B gene DOID:0001816 angiosarcoma ISO RGD:1314242 D RGD:9068941 20220303 RGD DNA:mutations:multiple (human) PMID:24633157|REF_RGD_ID:151361292 11695335 PTPRB protein tyrosine phosphatase receptor type B gene DOID:0001816 angiosarcoma ISO RGD:1314242 D RGD:9068941 20220310 RGD DNA:mutation:multiple (human) PMID:26440310|REF_RGD_ID:151665099 11695335 PTPRB protein tyrosine phosphatase receptor type B gene DOID:0060108 brain glioma ISO RGD:1314242 D RGD:9068941 20220310 RGD human cell in mouse model PMID:16923162|REF_RGD_ID:151660368 11695335 PTPRB protein tyrosine phosphatase receptor type B gene DOID:0060108 brain glioma ISO RGD:1314242 D RGD:9068941 20220310 RGD protein:increased expression:brain (human) PMID:33900414|REF_RGD_ID:151660356 11695335 PTPRB protein tyrosine phosphatase receptor type B gene DOID:0080199 colorectal carcinoma ISO RGD:1314242 D RGD:9068941 20220303 RGD associated with metastasis; human cells in mouse model PMID:31040266|REF_RGD_ID:151361283 11695335 PTPRB protein tyrosine phosphatase receptor type B gene DOID:1115 sarcoma treatment ISO RGD:1314242 D RGD:9068941 20220303 RGD PMID:31089155|REF_RGD_ID:151660332 11695335 PTPRB protein tyrosine phosphatase receptor type B gene DOID:14400 capillary leak syndrome treatment ISO RGD:1552328 D RGD:9068941 20220310 RGD mouse tumor cells in mouse recipient PMID:31348125|REF_RGD_ID:151660353 11695335 PTPRB protein tyrosine phosphatase receptor type B gene DOID:3068 glioblastoma ISO RGD:1314242 D RGD:9068941 20220310 RGD protein:increased expression:brain (human) PMID:14692702|PMID:15831233|REF_RGD_ID:151660507|REF_RGD_ID:151664746 11695335 PTPRB protein tyrosine phosphatase receptor type B gene DOID:3068 glioblastoma treatment ISO RGD:1314242 D RGD:9068941 20220310 RGD human cells in mouse model PMID:16489031|REF_RGD_ID:151660504 11695335 PTPRB protein tyrosine phosphatase receptor type B gene DOID:3307 teratoma ISO RGD:1552328 D RGD:9068941 20220310 RGD PMID:23575676|REF_RGD_ID:151660354 11695335 PTPRB protein tyrosine phosphatase receptor type B gene DOID:3347 osteosarcoma disease_progression ISO RGD:1314242 D RGD:9068941 20220303 RGD mRNA:decreased expression:bone (human) PMID:31829261|REF_RGD_ID:151361289 11695335 PTPRB protein tyrosine phosphatase receptor type B gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:1314242 D RGD:9068941 20220303 RGD protein:decreased expression:blood (human) PMID:32663515|REF_RGD_ID:151660329 11695335 PTPRB protein tyrosine phosphatase receptor type B gene DOID:3908 lung non-small cell carcinoma ISO RGD:1314242 D RGD:9068941 20220303 RGD human cells in mouse model PMID:27314562|REF_RGD_ID:151361281 11695335 PTPRB protein tyrosine phosphatase receptor type B gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1314242 D RGD:9068941 20220303 RGD mRNA:decreased expression:lung (human) PMID:27314562|REF_RGD_ID:151361281 11695335 PTPRB protein tyrosine phosphatase receptor type B gene DOID:3910 lung adenocarcinoma ISO RGD:1314242 D RGD:9068941 20220310 RGD mRNA:decreased expression:lung (human) PMID:7981622|REF_RGD_ID:151665112 11695335 PTPRB protein tyrosine phosphatase receptor type B gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1314242 D RGD:9068941 20220310 RGD mRNA:altered expression:lung (human) PMID:29254206|REF_RGD_ID:151665107 11695335 PTPRB protein tyrosine phosphatase receptor type B gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:1314242 D RGD:9068941 20220310 RGD PMID:32626543|REF_RGD_ID:151665104 11695335 PTPRB protein tyrosine phosphatase receptor type B gene DOID:4511 breast angiosarcoma ISO RGD:1314242 D RGD:9068941 20220310 RGD DNA:mutation:multiple (human) PMID:32123305|REF_RGD_ID:151665102 11695335 PTPRB protein tyrosine phosphatase receptor type B gene DOID:630 genetic disease ISO RGD:1314242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11695335 PTPRB protein tyrosine phosphatase receptor type B gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1314242 D RGD:9068941 20220303 RGD mRNA:decreased expression:liver (human) PMID:30237408|REF_RGD_ID:151361293 11695335 PTPRB protein tyrosine phosphatase receptor type B gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:1552328 D RGD:9068941 20220310 RGD PMID:23899555|REF_RGD_ID:151660352 11695335 PTPRB protein tyrosine phosphatase receptor type B gene DOID:9006608 Lung Carcinoid Tumors severity ISO RGD:1314242 D RGD:9068941 20220303 RGD mRNA:decreased expression:lung (human) PMID:25105010|REF_RGD_ID:151660336 11695335 PTPRB protein tyrosine phosphatase receptor type B gene DOID:9006618 Liver Metastasis treatment ISO RGD:1552328 D RGD:9068941 20220310 RGD mouse tumor cells in mouse recipient PMID:31348125|REF_RGD_ID:151660353 11695335 PTPRB protein tyrosine phosphatase receptor type B gene DOID:9009121 lung metastasis treatment ISO RGD:1552328 D RGD:9068941 20220310 RGD PMID:23899555|REF_RGD_ID:151660352 11695376 PGM2L1 phosphoglucomutase 2 like 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1316099 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11695376 PGM2L1 phosphoglucomutase 2 like 1 gene DOID:1059 intellectual disability ISO RGD:1316099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11695376 PGM2L1 phosphoglucomutase 2 like 1 gene DOID:630 genetic disease ISO RGD:1316099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11695376 PGM2L1 phosphoglucomutase 2 like 1 gene DOID:9003945 Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities ISO RGD:1316099 D RGD:7240710 20230125 OMIM 11695376 PGM2L1 phosphoglucomutase 2 like 1 gene DOID:9003945 Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities ISO RGD:1316099 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities PMID:33979636 11695394 WRAP53 WD repeat containing antisense to TP53 gene DOID:0070019 autosomal recessive dyskeratosis congenita 3 ISO RGD:1605665 D RGD:7240710 20180130 OMIM 11695394 WRAP53 WD repeat containing antisense to TP53 gene DOID:0070019 autosomal recessive dyskeratosis congenita 3 ISO RGD:1605665 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 3 PMID:17683073|PMID:20301779|PMID:21205863|PMID:24033266|PMID:25741868|PMID:26822237|PMID:28125078|PMID:28492532|PMID:32303682|PMID:34573280 11695394 WRAP53 WD repeat containing antisense to TP53 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1605665 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11695394 WRAP53 WD repeat containing antisense to TP53 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1605665 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11695394 WRAP53 WD repeat containing antisense to TP53 gene DOID:0111503 Li-Fraumeni syndrome 1 ISO RGD:1605665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 11695394 WRAP53 WD repeat containing antisense to TP53 gene DOID:12177 common variable immunodeficiency ISO RGD:1605665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11695394 WRAP53 WD repeat containing antisense to TP53 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1605665 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11695394 WRAP53 WD repeat containing antisense to TP53 gene DOID:1612 breast cancer ISO RGD:1605665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast 11695394 WRAP53 WD repeat containing antisense to TP53 gene DOID:1612 breast cancer no_association ISO RGD:1605665 D RGD:9068941 20200609 RGD DNA:SNP: : rs2287499(human) PMID:25134915|REF_RGD_ID:21081531 11695394 WRAP53 WD repeat containing antisense to TP53 gene DOID:1984 rectal benign neoplasm treatment ISO RGD:1605665 D RGD:9068941 20200609 RGD PMID:22805008|REF_RGD_ID:21081677 11695394 WRAP53 WD repeat containing antisense to TP53 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1605665 D RGD:9068941 20200609 RGD PMID:26426684|REF_RGD_ID:11522675 11695394 WRAP53 WD repeat containing antisense to TP53 gene DOID:2394 ovarian cancer susceptibility ISO RGD:1605665 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:23192612|REF_RGD_ID:21081534 11695394 WRAP53 WD repeat containing antisense to TP53 gene DOID:2729 dyskeratosis congenita ISO RGD:1605665 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:17683073|PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:24033266|PMID:25741868|PMID:26822237|PMID:28125078|PMID:28492532 11695394 WRAP53 WD repeat containing antisense to TP53 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1605665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni PMID:17576681|PMID:17683073|PMID:18511570|PMID:20522432|PMID:21056402|PMID:23172776|PMID:24033266|PMID:25741868|PMID:25762628|PMID:26681312|PMID:28492532|PMID:9242456|PMID:9536098 11695394 WRAP53 WD repeat containing antisense to TP53 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1605665 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:17576681|PMID:17683073|PMID:18511570|PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:24033266|PMID:25741868|PMID:25762628|PMID:26681312|PMID:28369373|PMID:28492532|PMID:9242456|PMID:9536098 11695394 WRAP53 WD repeat containing antisense to TP53 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1605665 D RGD:9068941 20200609 RGD PMID:24626331|REF_RGD_ID:21081532 11695394 WRAP53 WD repeat containing antisense to TP53 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1605665 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:30344734|REF_RGD_ID:21081519 11695394 WRAP53 WD repeat containing antisense to TP53 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1605665 D RGD:9068941 20200609 RGD RNA:increased expression:lung PMID:31281482|REF_RGD_ID:21081513 11695394 WRAP53 WD repeat containing antisense to TP53 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1605665 D RGD:9068941 20200609 RGD PMID:28347242|REF_RGD_ID:21081522 11695394 WRAP53 WD repeat containing antisense to TP53 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1605665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 11695394 WRAP53 WD repeat containing antisense to TP53 gene DOID:5520 head and neck squamous cell carcinoma treatment ISO RGD:1605665 D RGD:9068941 20200609 RGD PMID:25070141|PMID:25456005|REF_RGD_ID:21081529|REF_RGD_ID:21081533 11695394 WRAP53 WD repeat containing antisense to TP53 gene DOID:630 genetic disease ISO RGD:1605665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11695394 WRAP53 WD repeat containing antisense to TP53 gene DOID:684 hepatocellular carcinoma ISO RGD:1605665 D RGD:9068941 20200609 RGD RNA:increased expression:liver: PMID:26551349|REF_RGD_ID:11096781 11695394 WRAP53 WD repeat containing antisense to TP53 gene DOID:7031 glottis squamous cell carcinoma disease_progression ISO RGD:1605665 D RGD:9068941 20200609 RGD PMID:28849066|REF_RGD_ID:21081521 11695394 WRAP53 WD repeat containing antisense to TP53 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1605665 D RGD:9068941 20200609 RGD associated with esophagus squamous cell carcinoma; PMID:24626331|REF_RGD_ID:21081532 11695394 WRAP53 WD repeat containing antisense to TP53 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1605665 D RGD:9068941 20200609 RGD associated with lung non-small cell carcinoma; PMID:31281482|REF_RGD_ID:21081513 11695394 WRAP53 WD repeat containing antisense to TP53 gene DOID:9004373 Autosomal Recessive Dyskeratosis Congenita ISO RGD:1605665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11695394 WRAP53 WD repeat containing antisense to TP53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605665 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:21205863|PMID:25741868|PMID:28492532|PMID:9536098 11695394 WRAP53 WD repeat containing antisense to TP53 gene DOID:9007633 Body Weight ISO RGD:1605665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31243981 11695394 WRAP53 WD repeat containing antisense to TP53 gene DOID:9256 colorectal cancer ISO RGD:1605665 D RGD:9068941 20200609 RGD PMID:30175821|REF_RGD_ID:21081520 11695394 WRAP53 WD repeat containing antisense to TP53 gene DOID:9256 colorectal cancer onset ISO RGD:1605665 D RGD:9068941 20200609 RGD PMID:26013439|REF_RGD_ID:21081528 11695394 WRAP53 WD repeat containing antisense to TP53 gene DOID:9261 nasopharynx carcinoma ISO RGD:1605665 D RGD:9068941 20200609 RGD associated with Epstein-Barr Virus Infections; protein:increased expression:nasopharynx epithelium PMID:28607398|REF_RGD_ID:21081524 11695417 CNKSR3 CNKSR family member 3 gene DOID:630 genetic disease ISO RGD:1316799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11695434 MERTK MER proto-oncogene, tyrosine kinase gene DOID:0060903 thrombosis ISO RGD:731631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15130911 11695434 MERTK MER proto-oncogene, tyrosine kinase gene DOID:0060903 thrombosis ISO RGD:731632 D RGD:9068941 20200609 RGD PMID:15130911|REF_RGD_ID:1582496 11695434 MERTK MER proto-oncogene, tyrosine kinase gene DOID:0080600 COVID-19 ISO RGD:731631 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11695434 MERTK MER proto-oncogene, tyrosine kinase gene DOID:0110367 retinitis pigmentosa 38 ISO RGD:731631 D RGD:7240710 20180130 OMIM 11695434 MERTK MER proto-oncogene, tyrosine kinase gene DOID:0110367 retinitis pigmentosa 38 ISO RGD:731631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 38 PMID:11062461|PMID:11727200|PMID:15111602|PMID:16199547|PMID:16714263|PMID:17301963|PMID:17576681|PMID:20300561|PMID:21677792|PMID:22180149|PMID:22939401|PMID:24033266|PMID:24265693|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25326637|PMID:25741868|PMID:26263531|PMID:26355662|PMID:26872967|PMID:28041643|PMID:28462455|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29659094|PMID:30718709|PMID:30851773|PMID:32036094|PMID:33353011|PMID:9536098 11695434 MERTK MER proto-oncogene, tyrosine kinase gene DOID:10584 retinitis pigmentosa ISO RGD:731631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11062461|PMID:11592982|PMID:15111602|PMID:16199547|PMID:16714263|PMID:17301963|PMID:17576681|PMID:19956407|PMID:20300561|PMID:22180149|PMID:22939401|PMID:24265693|PMID:24625443|PMID:24938718|PMID:25097241|PMID:25741868|PMID:26263531|PMID:26355662|PMID:26700204|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29659094|PMID:30054919|PMID:30718709|PMID:31725702|PMID:9536098 11695434 MERTK MER proto-oncogene, tyrosine kinase gene DOID:10584 retinitis pigmentosa ISO RGD:731631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11062461|PMID:15111602|PMID:16199547|PMID:16714263|PMID:17301963|PMID:17576681|PMID:19956407|PMID:20300561|PMID:22180149|PMID:22939401|PMID:24265693|PMID:24625443|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25741868|PMID:26355662|PMID:26700204|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29659094|PMID:30054919|PMID:30718709|PMID:31054281|PMID:31725702|PMID:32036094|PMID:33353011|PMID:9536098 11695434 MERTK MER proto-oncogene, tyrosine kinase gene DOID:2986 IgA glomerulonephritis ISO RGD:731631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 11695434 MERTK MER proto-oncogene, tyrosine kinase gene DOID:305 carcinoma ISO RGD:731631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19028587 11695434 MERTK MER proto-oncogene, tyrosine kinase gene DOID:630 genetic disease ISO RGD:731631 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17301963|PMID:24265693|PMID:26355662|PMID:28492532|PMID:29659094 11695434 MERTK MER proto-oncogene, tyrosine kinase gene DOID:8466 retinal degeneration ISO RGD:69283 D RGD:9068941 20201218 RGD PMID:11592982|REF_RGD_ID:69668 11695434 MERTK MER proto-oncogene, tyrosine kinase gene DOID:8466 retinal degeneration treatment ISO RGD:69283 D RGD:9068941 20200609 RGD PMID:11592982|REF_RGD_ID:69668 11695434 MERTK MER proto-oncogene, tyrosine kinase gene DOID:8501 fundus dystrophy ISO RGD:731631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11062461|PMID:11727200|PMID:15111602|PMID:16199547|PMID:17301963|PMID:17576681|PMID:24265693|PMID:24625443|PMID:25097241|PMID:25741868|PMID:26355662|PMID:26700204|PMID:27208204|PMID:28041643|PMID:28462455|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29074561|PMID:29659094|PMID:30718709|PMID:33353011|PMID:33921607|PMID:9536098 11695434 MERTK MER proto-oncogene, tyrosine kinase gene DOID:9003121 Thromboembolism ISO RGD:731631 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17047157 11695434 MERTK MER proto-oncogene, tyrosine kinase gene DOID:9477 pulmonary embolism ISO RGD:731631 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19028587 11695434 MERTK MER proto-oncogene, tyrosine kinase gene DOID:9477 pulmonary embolism ISO RGD:731632 D RGD:9068941 20200609 RGD PMID:15130911|REF_RGD_ID:1582496 11695456 FANCG FA complementation group G gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1350702 D RGD:9068941 20200609 RGD PMID:17409780|REF_RGD_ID:11049143 11695456 FANCG FA complementation group G gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1350702 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:11438206|PMID:16643430|PMID:24728327|PMID:25741868|PMID:26740942|PMID:28492532 11695456 FANCG FA complementation group G gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1350702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11695456 FANCG FA complementation group G gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1350702 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11695456 FANCG FA complementation group G gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:1350702 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant PMID:11438206|PMID:16643430|PMID:24728327|PMID:25741868|PMID:26740942|PMID:28492532 11695456 FANCG FA complementation group G gene DOID:0080942 anauxetic dysplasia ISO RGD:1350702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11695456 FANCG FA complementation group G gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1350702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11695456 FANCG FA complementation group G gene DOID:0111086 Fanconi anemia complementation group G ISO RGD:1350702 D RGD:7240710 20180130 OMIM 11695456 FANCG FA complementation group G gene DOID:0111086 Fanconi anemia complementation group G ISO RGD:1350702 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group G PMID:09806548|PMID:10567393|PMID:10807541|PMID:10961856|PMID:11093276|PMID:11126723|PMID:11438206|PMID:12552564|PMID:12673805|PMID:15657175|PMID:16084127|PMID:16199547|PMID:16621732|PMID:16643430|PMID:17010390|PMID:17576681|PMID:17924555|PMID:19102630|PMID:20301575|PMID:21659346|PMID:22778927|PMID:23067021|PMID:23613520|PMID:24136620|PMID:24300640|PMID:24584348|PMID:24728327|PMID:24763404|PMID:25703136|PMID:25741868|PMID:26689913|PMID:26740942|PMID:26968956|PMID:28024295|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29905759|PMID:30031030|PMID:31558676|PMID:31839986|PMID:32546565|PMID:32947577|PMID:33718801|PMID:9536098|PMID:9806548 11695456 FANCG FA complementation group G gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1350702 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:25741868|PMID:28492532 11695456 FANCG FA complementation group G gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1350702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11695456 FANCG FA complementation group G gene DOID:13636 Fanconi anemia ISO RGD:1350702 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:09806548|PMID:10807541|PMID:10961856|PMID:11093276|PMID:11126723|PMID:11438206|PMID:12552564|PMID:12673805|PMID:15657175|PMID:16084127|PMID:16199547|PMID:16643430|PMID:17576681|PMID:17924555|PMID:19102630|PMID:20301575|PMID:22778927|PMID:23067021|PMID:23613520|PMID:24033266|PMID:24584348|PMID:24728327|PMID:24763404|PMID:24989076|PMID:25703136|PMID:25741868|PMID:26689913|PMID:27041517|PMID:28024295|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29905759|PMID:30031030|PMID:32546565|PMID:33563768|PMID:9536098|PMID:9806548 11695456 FANCG FA complementation group G gene DOID:13636 Fanconi anemia ISO RGD:1350702 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:09806548|PMID:10807541|PMID:10961856|PMID:11093276|PMID:11126723|PMID:11438206|PMID:12552564|PMID:12673805|PMID:15657175|PMID:16084127|PMID:16199547|PMID:16621732|PMID:16643430|PMID:17010390|PMID:17576681|PMID:17924555|PMID:19102630|PMID:20301575|PMID:22778927|PMID:23067021|PMID:23613520|PMID:24033266|PMID:24584348|PMID:24728327|PMID:24763404|PMID:24989076|PMID:25703136|PMID:25741868|PMID:26689913|PMID:27041517|PMID:28024295|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29905759|PMID:30031030|PMID:31558676|PMID:32546565|PMID:33563768|PMID:9536098|PMID:9806548 11695456 FANCG FA complementation group G gene DOID:13636 Fanconi anemia ISO RGD:1350702 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:09806548|PMID:10567393|PMID:10807541|PMID:10961856|PMID:11093276|PMID:11126723|PMID:11438206|PMID:12552564|PMID:12673805|PMID:15657175|PMID:16084127|PMID:16199547|PMID:16621732|PMID:16643430|PMID:17010390|PMID:17576681|PMID:17924555|PMID:19102630|PMID:20301575|PMID:21659346|PMID:22778927|PMID:23067021|PMID:23613520|PMID:24033266|PMID:24136620|PMID:24584348|PMID:24728327|PMID:24763404|PMID:24989076|PMID:25703136|PMID:25741868|PMID:26689913|PMID:26740942|PMID:26968956|PMID:27041517|PMID:28024295|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29905759|PMID:30031030|PMID:31558676|PMID:31839986|PMID:32546565|PMID:32947577|PMID:33563768|PMID:33718801|PMID:34422195|PMID:9536098|PMID:9806548 11695456 FANCG FA complementation group G gene DOID:1793 pancreatic cancer ISO RGD:1350702 D RGD:9068941 20200609 RGD PMID:16243825|REF_RGD_ID:2317238 11695456 FANCG FA complementation group G gene DOID:2394 ovarian cancer ISO RGD:1350702 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:28492532 11695456 FANCG FA complementation group G gene DOID:403 mouth disease ISO RGD:1350702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 11695456 FANCG FA complementation group G gene DOID:4905 pancreatic carcinoma ISO RGD:1350702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas 11695456 FANCG FA complementation group G gene DOID:630 genetic disease ISO RGD:1350702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11695456 FANCG FA complementation group G gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1350702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11695456 FANCG FA complementation group G gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1350702 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868|PMID:28717661 11695456 FANCG FA complementation group G gene DOID:9562 primary ciliary dyskinesia ISO RGD:1350702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11695456 FANCG FA complementation group G gene DOID:9870 galactosemia ISO RGD:1350702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11695487 UNC13D unc-13 homolog D gene DOID:0110923 familial hemophagocytic lymphohistiocytosis 3 ISO RGD:1604204 D RGD:7240710 20180130 OMIM 11695487 UNC13D unc-13 homolog D gene DOID:0110923 familial hemophagocytic lymphohistiocytosis 3 ISO RGD:1604204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 3 PMID:10459864|PMID:14622600|PMID:15466010|PMID:15548590|PMID:16199547|PMID:16278825|PMID:16825436|PMID:17576681|PMID:17993578|PMID:18240215|PMID:18492689|PMID:18759271|PMID:19484379|PMID:19704116|PMID:19903216|PMID:20015888|PMID:20823128|PMID:21094958|PMID:21152410|PMID:21182842|PMID:21248318|PMID:21600143|PMID:21653941|PMID:21674762|PMID:21755595|PMID:21881043|PMID:21931115|PMID:22508512|PMID:23180437|PMID:23560006|PMID:23669735|PMID:23672263|PMID:23840885|PMID:24033266|PMID:24043286|PMID:24139496|PMID:24309606|PMID:24459464|PMID:24470399|PMID:24825797|PMID:24842371|PMID:24916509|PMID:24935083|PMID:25502423|PMID:25553300|PMID:25573973|PMID:25741868|PMID:25901543|PMID:26342526|PMID:26419432|PMID:26684649|PMID:27123661|PMID:27164702|PMID:27209435|PMID:27781387|PMID:27872624|PMID:27896523|PMID:27914778|PMID:28353193|PMID:28399723|PMID:28492532|PMID:28748566|PMID:28848550|PMID:29113160|PMID:29262924|PMID:29357941|PMID:29409136|PMID:29415165|PMID:29549174|PMID:29665027|PMID:29783935|PMID:2978935|PMID:29864493|PMID:29930202|PMID:30220951|PMID:30899265|PMID:31388699|PMID:31681265|PMID:32135276|PMID:32245292|PMID:32327331|PMID:32375849|PMID:32542393|PMID:32638196|PMID:32888943|PMID:33658321|PMID:33746956|PMID:34083498|PMID:34170459|PMID:34339548|PMID:9536098 11695487 UNC13D unc-13 homolog D gene DOID:0110923 familial hemophagocytic lymphohistiocytosis 3 susceptibility ISO RGD:1604204 D RGD:9068941 20200609 RGD DNA:deletions, insertion, snps:exons, intron:multiple (human) PMID:14622600|REF_RGD_ID:1600451 11695487 UNC13D unc-13 homolog D gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1604204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:10459864|PMID:14622600|PMID:15466010|PMID:16199547|PMID:16278825|PMID:16825436|PMID:17576681|PMID:17993578|PMID:18240215|PMID:18492689|PMID:18759271|PMID:19484379|PMID:19704116|PMID:20823128|PMID:21094958|PMID:21152410|PMID:21248318|PMID:21600143|PMID:21674762|PMID:21755595|PMID:21881043|PMID:23180437|PMID:23840885|PMID:24033266|PMID:24139496|PMID:24459464|PMID:24470399|PMID:24916509|PMID:25502423|PMID:25573973|PMID:25741868|PMID:26342526|PMID:28399723|PMID:28492532|PMID:28748566|PMID:29113160|PMID:29262924|PMID:29357941|PMID:29415165|PMID:29549174|PMID:30899265|PMID:32375849|PMID:32542393|PMID:32638196|PMID:33746956|PMID:34339548|PMID:9536098 11695487 UNC13D unc-13 homolog D gene DOID:630 genetic disease ISO RGD:1604204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11695487 UNC13D unc-13 homolog D gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11695487 UNC13D unc-13 homolog D gene DOID:9004404 Familial Hemophagocytic Lymphohistiocytoses ISO RGD:1604204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis PMID:14622600|PMID:16778144|PMID:16825436|PMID:20823128|PMID:21248318|PMID:21931115|PMID:23180437|PMID:23560006|PMID:24470399|PMID:24825797|PMID:24842371|PMID:24935083|PMID:25553300|PMID:25573973|PMID:25741868|PMID:27123661|PMID:27896523|PMID:28492532|PMID:28848550|PMID:29262924|PMID:29312353|PMID:29549174|PMID:31388699|PMID:32327331|PMID:32542393|PMID:33746956 11695538 HDAC8 histone deacetylase 8 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11695538 HDAC8 histone deacetylase 8 gene DOID:0060814 Wilson-Turner syndrome ISO RGD:1344478 D RGD:9068941 20200609 RGD DNA:snp:intron:c.164+5G>A (human) PMID:22889856|REF_RGD_ID:13208817 11695538 HDAC8 histone deacetylase 8 gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1344478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:25741868|PMID:26671848|PMID:30158690 11695538 HDAC8 histone deacetylase 8 gene DOID:0080509 Cornelia de Lange syndrome 5 ISO RGD:1344478 D RGD:7240710 20180130 OMIM 11695538 HDAC8 histone deacetylase 8 gene DOID:0080509 Cornelia de Lange syndrome 5 ISO RGD:1344478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 PMID:16199547|PMID:17576681|PMID:18414213|PMID:19605684|PMID:21320778|PMID:22885700|PMID:22889856|PMID:24038889|PMID:24088041|PMID:24375697|PMID:24403048|PMID:25075551|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25574841|PMID:25640679|PMID:25741868|PMID:26463496|PMID:26633545|PMID:26671848|PMID:26725122|PMID:27159028|PMID:28492532|PMID:29293505|PMID:30158690|PMID:9536098 11695538 HDAC8 histone deacetylase 8 gene DOID:10487 Hirschsprung's disease ISO RGD:1344478 D RGD:9068941 20200609 RGD protein:decreased expression:colon (human) PMID:16771768|REF_RGD_ID:13208819 11695538 HDAC8 histone deacetylase 8 gene DOID:1059 intellectual disability ISO RGD:1344478 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:22885700|PMID:24038889|PMID:24403048|PMID:25741868|PMID:26671848|PMID:26725122|PMID:27159028|PMID:28492532 11695538 HDAC8 histone deacetylase 8 gene DOID:10763 hypertension ISO RGD:1558090 D RGD:9068941 20200609 RGD protein:decreased expression:heart (mouse, rat) PMID:28567090|REF_RGD_ID:13208602 11695538 HDAC8 histone deacetylase 8 gene DOID:10763 hypertension ISO RGD:1562895 D RGD:9068941 20200609 RGD protein:decreased expression:heart (mouse, rat) PMID:28567090|REF_RGD_ID:13208602 11695538 HDAC8 histone deacetylase 8 gene DOID:12849 autistic disorder ISO RGD:1344478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11695538 HDAC8 histone deacetylase 8 gene DOID:1591 renovascular hypertension treatment ISO RGD:1562895 D RGD:9068941 20200609 RGD PMID:27673327|REF_RGD_ID:13208809 11695538 HDAC8 histone deacetylase 8 gene DOID:1882 atrial heart septal defect ISO RGD:1344478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 11695538 HDAC8 histone deacetylase 8 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1344478 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (human) PMID:15888697|REF_RGD_ID:13208820 11695538 HDAC8 histone deacetylase 8 gene DOID:630 genetic disease ISO RGD:1344478 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15146185|PMID:15146186|PMID:17640042|PMID:18414213|PMID:19886810|PMID:21320778|PMID:22885700|PMID:22889856|PMID:24038889|PMID:24403048|PMID:24718998|PMID:25075551|PMID:25209348|PMID:25741868|PMID:26463496|PMID:26671848|PMID:26725122|PMID:27159028|PMID:28492532|PMID:30158690 11695538 HDAC8 histone deacetylase 8 gene DOID:670 amphetamine abuse ISO RGD:1562895 D RGD:9068941 20200609 RGD mRNA:decreased expression:striatum (rat) PMID:25452209|REF_RGD_ID:9681719 11695538 HDAC8 histone deacetylase 8 gene DOID:8445 intestinal volvulus ISO RGD:1344478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11695538 HDAC8 histone deacetylase 8 gene DOID:9000924 Gastrointestinal Motility Disorders ISO RGD:1344478 D RGD:9068941 20200609 RGD protein:decreased expression:colon (human) PMID:16771768|REF_RGD_ID:13208819 11695538 HDAC8 histone deacetylase 8 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1558090 D RGD:9068941 20200609 RGD PMID:25504627|REF_RGD_ID:13208811 11695538 HDAC8 histone deacetylase 8 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1562895 D RGD:9068941 20200609 RGD associated with Hypertension PMID:23868068|REF_RGD_ID:9681716 11695538 HDAC8 histone deacetylase 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11695538 HDAC8 histone deacetylase 8 gene DOID:9008086 Developmental Disabilities ISO RGD:1344478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:26671848 11695538 HDAC8 histone deacetylase 8 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1344478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11695567 PTAR1 protein prenyltransferase alpha subunit repeat containing 1 gene DOID:630 genetic disease ISO RGD:1313649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11695590 CTNNA2 catenin alpha 2 gene DOID:0050453 lissencephaly ISO RGD:1312865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30013181 11695590 CTNNA2 catenin alpha 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1312865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11695590 CTNNA2 catenin alpha 2 gene DOID:630 genetic disease ISO RGD:1312865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11695590 CTNNA2 catenin alpha 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1312865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24816253 11695590 CTNNA2 catenin alpha 2 gene DOID:9001005 Complex Cortical Dysplasia with Other Brain Malformations 9 ISO RGD:1312865 D RGD:7240710 20190315 OMIM 11695590 CTNNA2 catenin alpha 2 gene DOID:9001005 Complex Cortical Dysplasia with Other Brain Malformations 9 ISO RGD:1312865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 9 PMID:25741868|PMID:30013181 11695622 FRMD5 FERM domain containing 5 gene DOID:0081275 neurodevelopmental disorder with eye movement abnormalities and ataxia ISO RGD:1605911 D RGD:7240710 20221102 OMIM 11695622 FRMD5 FERM domain containing 5 gene DOID:0081275 neurodevelopmental disorder with eye movement abnormalities and ataxia ISO RGD:1605911 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with eye movement abnormalities and ataxia PMID:25741868|PMID:36206744 11695622 FRMD5 FERM domain containing 5 gene DOID:0110471 autosomal recessive nonsyndromic deafness 16 ISO RGD:1605911 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 16 PMID:25741868 11695622 FRMD5 FERM domain containing 5 gene DOID:2717 Bloom syndrome ISO RGD:1605911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11695622 FRMD5 FERM domain containing 5 gene DOID:630 genetic disease ISO RGD:1605911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11695622 FRMD5 FERM domain containing 5 gene DOID:9256 colorectal cancer ISO RGD:1605911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 11695654 RPL35 ribosomal protein L35 gene DOID:0111886 Diamond-Blackfan anemia 19 ISO RGD:1353068 D RGD:7240710 20190315 OMIM 11695654 RPL35 ribosomal protein L35 gene DOID:0111886 Diamond-Blackfan anemia 19 ISO RGD:1353068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 19 PMID:28280134 11695654 RPL35 ribosomal protein L35 gene DOID:630 genetic disease ISO RGD:1353068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11695662 MORC1 MORC family CW-type zinc finger 1 gene DOID:11372 megacolon ISO RGD:1321422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11695662 MORC1 MORC family CW-type zinc finger 1 gene DOID:1595 melancholic depression ISO RGD:1620107 D RGD:9068941 20220825 MouseDO OMIM:608516 11695662 MORC1 MORC family CW-type zinc finger 1 gene DOID:630 genetic disease ISO RGD:1321422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11695693 PRPF38A pre-mRNA processing factor 38A gene DOID:630 genetic disease ISO RGD:1602851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11695712 PLA2G7 phospholipase A2 group VII gene DOID:0050848 obstructive sleep apnea ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:21698055|REF_RGD_ID:6482785 11695712 PLA2G7 phospholipase A2 group VII gene DOID:0050851 glomerulosclerosis ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:16213192|REF_RGD_ID:7248790 11695712 PLA2G7 phospholipase A2 group VII gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1321810 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22112193|REF_RGD_ID:6482771 11695712 PLA2G7 phospholipase A2 group VII gene DOID:0080379 nephrotic syndrome type 2 disease_progression ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:9853251|REF_RGD_ID:7248793 11695712 PLA2G7 phospholipase A2 group VII gene DOID:0110098 atopic dermatitis 2 ISO RGD:1321810 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dermatitis, atopic, 2 PMID:25741868 11695712 PLA2G7 phospholipase A2 group VII gene DOID:1184 nephrotic syndrome ISO RGD:1310734 D RGD:9068941 20200609 RGD protein:increased activity:plasma PMID:8692015|REF_RGD_ID:7257517 11695712 PLA2G7 phospholipase A2 group VII gene DOID:1184 nephrotic syndrome ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:15292677|REF_RGD_ID:7248795 11695712 PLA2G7 phospholipase A2 group VII gene DOID:12554 hemolytic-uremic syndrome severity ISO RGD:1321810 D RGD:9068941 20200609 RGD associated with Escherichia coli Infections; DNA:transversion mutation: :994 G>T (human) PMID:10873870|REF_RGD_ID:7257516 11695712 PLA2G7 phospholipase A2 group VII gene DOID:13001 carotid stenosis severity ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:22075154|REF_RGD_ID:6482772 11695712 PLA2G7 phospholipase A2 group VII gene DOID:1307 dementia ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:16278861|REF_RGD_ID:6482779 11695712 PLA2G7 phospholipase A2 group VII gene DOID:1936 atherosclerosis ISO RGD:1321810 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, type 2;DNA:missense mutation: :994G>T(human) PMID:12590019|REF_RGD_ID:7248796 11695712 PLA2G7 phospholipase A2 group VII gene DOID:1936 atherosclerosis ISO RGD:1321811 D RGD:9068941 20200609 RGD PMID:21970837|REF_RGD_ID:6482784 11695712 PLA2G7 phospholipase A2 group VII gene DOID:2377 multiple sclerosis ISO RGD:1321810 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22246459|REF_RGD_ID:6482783 11695712 PLA2G7 phospholipase A2 group VII gene DOID:2841 asthma ISO RGD:1321810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma and atopy, susceptibility to PMID:10733466|PMID:15115767 11695712 PLA2G7 phospholipase A2 group VII gene DOID:2841 asthma susceptibility ISO RGD:1321810 D RGD:7240710 20230517 OMIM 11695712 PLA2G7 phospholipase A2 group VII gene DOID:2921 glomerulonephritis ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:8730430|REF_RGD_ID:7248794 11695712 PLA2G7 phospholipase A2 group VII gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:1321810 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:12220450|REF_RGD_ID:7257515 11695712 PLA2G7 phospholipase A2 group VII gene DOID:3393 coronary artery disease disease_progression ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:17070179|REF_RGD_ID:6482777 11695712 PLA2G7 phospholipase A2 group VII gene DOID:3393 coronary artery disease susceptibility ISO RGD:1321810 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A379V (human) PMID:15115767|REF_RGD_ID:6482781 11695712 PLA2G7 phospholipase A2 group VII gene DOID:3407 carotid artery disease severity ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:22499993|REF_RGD_ID:6482769 11695712 PLA2G7 phospholipase A2 group VII gene DOID:3526 cerebral infarction ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:18201705|REF_RGD_ID:6482775 11695712 PLA2G7 phospholipase A2 group VII gene DOID:576 proteinuria ISO RGD:1321810 D RGD:9068941 20200609 RGD DNA:mutation: :994G>T(human) PMID:10430976|REF_RGD_ID:7248792 11695712 PLA2G7 phospholipase A2 group VII gene DOID:5844 myocardial infarction ISO RGD:1321810 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19644070|REF_RGD_ID:6482786 11695712 PLA2G7 phospholipase A2 group VII gene DOID:6000 congestive heart failure ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:16952920|REF_RGD_ID:6482778 11695712 PLA2G7 phospholipase A2 group VII gene DOID:630 genetic disease ISO RGD:1321810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11695712 PLA2G7 phospholipase A2 group VII gene DOID:655 inherited metabolic disorder ISO RGD:1321810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8675689 11695712 PLA2G7 phospholipase A2 group VII gene DOID:7148 rheumatoid arthritis ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:17326817|REF_RGD_ID:6482776 11695712 PLA2G7 phospholipase A2 group VII gene DOID:7693 abdominal aortic aneurysm ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:11807372|REF_RGD_ID:1581024 11695712 PLA2G7 phospholipase A2 group VII gene DOID:783 end stage renal disease ISO RGD:1321810 D RGD:9068941 20200609 RGD plasma:increased expression:plasma PMID:16421163|REF_RGD_ID:7248787 11695712 PLA2G7 phospholipase A2 group VII gene DOID:9000204 Platelet-Activating Factor Acetylhydrolase Deficiency ISO RGD:1321810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Platelet-activating factor acetylhydrolase deficiency PMID:10194471|PMID:10733466|PMID:16787988|PMID:25741868|PMID:28406212|PMID:8675689|PMID:9412624 11695712 PLA2G7 phospholipase A2 group VII gene DOID:9000204 Platelet-Activating Factor Acetylhydrolase Deficiency susceptibility ISO RGD:1321810 D RGD:7240710 20230517 OMIM 11695712 PLA2G7 phospholipase A2 group VII gene DOID:9000528 Coronary Disease ISO RGD:1321810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21356620 11695712 PLA2G7 phospholipase A2 group VII gene DOID:9000528 Coronary Disease ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:15699277|REF_RGD_ID:6482780 11695712 PLA2G7 phospholipase A2 group VII gene DOID:9001686 Acute Coronary Syndrome disease_progression ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:22024276|REF_RGD_ID:6482773 11695712 PLA2G7 phospholipase A2 group VII gene DOID:9002850 Immediate Hypersensitivity ISO RGD:1321810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10733466 11695712 PLA2G7 phospholipase A2 group VII gene DOID:9005372 Inflammation ISO RGD:1321810 D RGD:9068941 20200609 RGD associated with Cerebral Infarction;protein:increased expression:serum PMID:19886071|REF_RGD_ID:6482774 11695712 PLA2G7 phospholipase A2 group VII gene DOID:9005930 Endotoxemia ISO RGD:1310734 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:10748027|REF_RGD_ID:7248791 11695712 PLA2G7 phospholipase A2 group VII gene DOID:9006332 Vascular Calcification ISO RGD:1321810 D RGD:9068941 20200609 RGD DNA:SNPs:cds, intron:multiple PMID:22340269|REF_RGD_ID:6482770 11695712 PLA2G7 phospholipase A2 group VII gene DOID:9006646 Metabolic Syndrome ISO RGD:1310734 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:21172452|REF_RGD_ID:6482748 11695712 PLA2G7 phospholipase A2 group VII gene DOID:9007096 Stroke ISO RGD:1321810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21356620 11695712 PLA2G7 phospholipase A2 group VII gene DOID:9007096 Stroke ISO RGD:1321810 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19644070|REF_RGD_ID:6482786 11695712 PLA2G7 phospholipase A2 group VII gene DOID:9008727 Ige Responsiveness, Atopic susceptibility ISO RGD:1321810 D RGD:7240710 20230517 OMIM 11695712 PLA2G7 phospholipase A2 group VII gene DOID:9352 type 2 diabetes mellitus ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:22399516|REF_RGD_ID:6482782 11695731 LENG9 leukocyte receptor cluster member 9 gene DOID:2661 myoepithelioma ISO RGD:1317999 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11695731 LENG9 leukocyte receptor cluster member 9 gene DOID:630 genetic disease ISO RGD:1317999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11695792 PWWP2B PWWP domain containing 2B gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1316105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11695792 PWWP2B PWWP domain containing 2B gene DOID:11612 polycystic ovary syndrome ISO RGD:1316105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11695792 PWWP2B PWWP domain containing 2B gene DOID:630 genetic disease ISO RGD:1316105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11695801 TMEM223 transmembrane protein 223 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:2303656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11695801 TMEM223 transmembrane protein 223 gene DOID:1059 intellectual disability ISO RGD:2303656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11695801 TMEM223 transmembrane protein 223 gene DOID:630 genetic disease ISO RGD:2303656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11695807 BRMS1 BRMS1 transcriptional repressor and anoikis regulator gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1322310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 11695807 BRMS1 BRMS1 transcriptional repressor and anoikis regulator gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:1322310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:22219654|PMID:28492532 11695807 BRMS1 BRMS1 transcriptional repressor and anoikis regulator gene DOID:1059 intellectual disability ISO RGD:1322310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11695807 BRMS1 BRMS1 transcriptional repressor and anoikis regulator gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1322310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11695807 BRMS1 BRMS1 transcriptional repressor and anoikis regulator gene DOID:2746 glycogen storage disease V ISO RGD:1322310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11695807 BRMS1 BRMS1 transcriptional repressor and anoikis regulator gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1322310 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brain metastases:10-fold lower expression in metastases vs primary tumors PMID:15592684|REF_RGD_ID:2289400 11695807 BRMS1 BRMS1 transcriptional repressor and anoikis regulator gene DOID:630 genetic disease ISO RGD:1322310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11695807 BRMS1 BRMS1 transcriptional repressor and anoikis regulator gene DOID:9000965 Neoplasm Metastasis ISO RGD:1322310 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27501413 11695807 BRMS1 BRMS1 transcriptional repressor and anoikis regulator gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1322310 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11695807 BRMS1 BRMS1 transcriptional repressor and anoikis regulator gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1322310 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27501413 11695807 BRMS1 BRMS1 transcriptional repressor and anoikis regulator gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1322310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11695824 AADACL3 arylacetamide deacetylase like 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602438 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11695824 AADACL3 arylacetamide deacetylase like 3 gene DOID:630 genetic disease ISO RGD:1602438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11695832 GRK6 G protein-coupled receptor kinase 6 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1350771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11695832 GRK6 G protein-coupled receptor kinase 6 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1350771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11695832 GRK6 G protein-coupled receptor kinase 6 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1350771 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 11695832 GRK6 G protein-coupled receptor kinase 6 gene DOID:14330 Parkinson's disease ISO RGD:1350771 D RGD:9068941 20200609 RGD human gene in rat model PMID:22090514|REF_RGD_ID:5684916 11695832 GRK6 G protein-coupled receptor kinase 6 gene DOID:14330 Parkinson's disease ISO RGD:61986 D RGD:9068941 20200609 RGD protein: decreased expression: brain PMID:17996024|REF_RGD_ID:5685370 11695832 GRK6 G protein-coupled receptor kinase 6 gene DOID:630 genetic disease ISO RGD:1350771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11695832 GRK6 G protein-coupled receptor kinase 6 gene DOID:7148 rheumatoid arthritis ISO RGD:1350771 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10094932 11695832 GRK6 G protein-coupled receptor kinase 6 gene DOID:7148 rheumatoid arthritis ISO RGD:1350771 D RGD:9068941 20200609 RGD protein: decreased expression: mononuclear leukocytes PMID:10094932|REF_RGD_ID:5688380 11695832 GRK6 G protein-coupled receptor kinase 6 gene DOID:7148 rheumatoid arthritis ISO RGD:62278 D RGD:9068941 20200609 RGD DNA: deletion: : homozygous PMID:18662895|REF_RGD_ID:5688373 11695832 GRK6 G protein-coupled receptor kinase 6 gene DOID:9000039 Spinal Cord Injuries ISO RGD:61986 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord, neuron, microglial cell (rat) PMID:23359120|REF_RGD_ID:13792782 11695832 GRK6 G protein-coupled receptor kinase 6 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:61986 D RGD:9068941 20200609 RGD PMID:23196710|REF_RGD_ID:13792785 11695832 GRK6 G protein-coupled receptor kinase 6 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1350771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11695832 GRK6 G protein-coupled receptor kinase 6 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:61986 D RGD:9068941 20200609 RGD associated with Parkinson Disease PMID:20410529|REF_RGD_ID:5684919 11695870 SLFN12 schlafen family member 12 gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:1605673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 11695870 SLFN12 schlafen family member 12 gene DOID:630 genetic disease ISO RGD:1605673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11695888 TTF1 transcription termination factor 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1352742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11695888 TTF1 transcription termination factor 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1352742 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11695888 TTF1 transcription termination factor 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1352742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11695888 TTF1 transcription termination factor 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1352742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11695888 TTF1 transcription termination factor 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1352742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11695888 TTF1 transcription termination factor 1 gene DOID:3652 Leigh disease ISO RGD:1352742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11695888 TTF1 transcription termination factor 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1352742 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25851810 11695888 TTF1 transcription termination factor 1 gene DOID:630 genetic disease ISO RGD:1352742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11695907 ABHD13 abhydrolase domain containing 13 gene DOID:630 genetic disease ISO RGD:1318018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11695907 ABHD13 abhydrolase domain containing 13 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1318018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11695914 RESF1 retroelement silencing factor 1 gene DOID:630 genetic disease ISO RGD:1605655 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11695943 NADK NAD kinase gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1606514 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11695943 NADK NAD kinase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606514 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11695943 NADK NAD kinase gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1606514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11695943 NADK NAD kinase gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1606514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11695943 NADK NAD kinase gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1606514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11695943 NADK NAD kinase gene DOID:0110994 Joubert syndrome 25 ISO RGD:1606514 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11695943 NADK NAD kinase gene DOID:0111934 immunodeficiency 38 ISO RGD:1606514 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11695943 NADK NAD kinase gene DOID:0111935 immunodeficiency 16 ISO RGD:1606514 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11695943 NADK NAD kinase gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1606514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11695943 NADK NAD kinase gene DOID:630 genetic disease ISO RGD:1606514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11695943 NADK NAD kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11695943 NADK NAD kinase gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1606514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11695943 NADK NAD kinase gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1606514 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11695972 HDAC2 histone deacetylase 2 gene DOID:0050424 familial adenomatous polyposis treatment ISO RGD:1312510 D RGD:9068941 20200609 RGD PMID:24218540|REF_RGD_ID:9590246 11695972 HDAC2 histone deacetylase 2 gene DOID:0060163 body dysmorphic disorder ISO RGD:1312509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 11695972 HDAC2 histone deacetylase 2 gene DOID:10286 prostate carcinoma disease_progression ISO RGD:1312509 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18212746|REF_RGD_ID:2306214 11695972 HDAC2 histone deacetylase 2 gene DOID:10534 stomach cancer ISO RGD:1312509 D RGD:9068941 20200609 RGD PMID:23175521|REF_RGD_ID:9590325 11695972 HDAC2 histone deacetylase 2 gene DOID:10534 stomach cancer disease_progression ISO RGD:1312509 D RGD:9068941 20200609 RGD PMID:15865607|REF_RGD_ID:9590322 11695972 HDAC2 histone deacetylase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1312510 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus: PMID:22388814|REF_RGD_ID:9590324 11695972 HDAC2 histone deacetylase 2 gene DOID:11832 visual epilepsy ISO RGD:619976 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus & cortex: PMID:21987499|REF_RGD_ID:9590259 11695972 HDAC2 histone deacetylase 2 gene DOID:1561 cognitive disorder ISO RGD:1312510 D RGD:9068941 20200609 RGD PMID:22388814|REF_RGD_ID:9590324 11695972 HDAC2 histone deacetylase 2 gene DOID:1574 alcohol use disorder ISO RGD:619976 D RGD:9068941 20200609 RGD PMID:23485013|REF_RGD_ID:9590265 11695972 HDAC2 histone deacetylase 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1312509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21527555 11695972 HDAC2 histone deacetylase 2 gene DOID:1909 melanoma ISO RGD:1312509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11695972 HDAC2 histone deacetylase 2 gene DOID:2030 anxiety disorder ISO RGD:619976 D RGD:9068941 20200609 RGD PMID:23485013|REF_RGD_ID:9590265 11695972 HDAC2 histone deacetylase 2 gene DOID:2841 asthma ISO RGD:1312509 D RGD:9068941 20200609 RGD mRNA:decreased expression:macrophage: PMID:20538962|REF_RGD_ID:9590321 11695972 HDAC2 histone deacetylase 2 gene DOID:289 endometriosis ISO RGD:1312509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 11695972 HDAC2 histone deacetylase 2 gene DOID:289 endometriosis treatment ISO RGD:619976 D RGD:9068941 20200609 RGD protein:decreased expression:ectopic endometrium, dorsal root ganglion: PMID:20884991|REF_RGD_ID:9590244 11695972 HDAC2 histone deacetylase 2 gene DOID:3021 acute kidney failure treatment ISO RGD:1312510 D RGD:9068941 20200609 RGD associated with sepsis; PMID:22933299|REF_RGD_ID:9590257 11695972 HDAC2 histone deacetylase 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1312509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15337792|PMID:18421014 11695972 HDAC2 histone deacetylase 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:619976 D RGD:9068941 20200609 RGD protein:decreased expression:lung: PMID:22732689|REF_RGD_ID:7204496 11695972 HDAC2 histone deacetylase 2 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:619976 D RGD:9068941 20200609 RGD PMID:24940433|REF_RGD_ID:9590287 11695972 HDAC2 histone deacetylase 2 gene DOID:3328 temporal lobe epilepsy ISO RGD:1312509 D RGD:9068941 20200609 RGD protein:increased expression:timporal lobe: PMID:21987499|REF_RGD_ID:9590259 11695972 HDAC2 histone deacetylase 2 gene DOID:3525 middle cerebral artery infarction exacerbates ISO RGD:1312510 D RGD:9068941 20230209 RGD PMID:32239566|REF_RGD_ID:155883173 11695972 HDAC2 histone deacetylase 2 gene DOID:5082 liver cirrhosis ISO RGD:1312509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27396813 11695972 HDAC2 histone deacetylase 2 gene DOID:6132 bronchitis treatment ISO RGD:619976 D RGD:9068941 20200609 RGD PMID:22708526|REF_RGD_ID:9590258 11695972 HDAC2 histone deacetylase 2 gene DOID:630 genetic disease ISO RGD:1312509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11302704|PMID:19822520 11695972 HDAC2 histone deacetylase 2 gene DOID:6432 pulmonary hypertension ISO RGD:1312509 D RGD:9068941 20200609 RGD protein:decreased expression:lung: PMID:22711276|REF_RGD_ID:9590133 11695972 HDAC2 histone deacetylase 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1312509 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:24448241|REF_RGD_ID:9590206 11695972 HDAC2 histone deacetylase 2 gene DOID:8616 Peyronie's disease ISO RGD:619976 D RGD:9068941 20200609 RGD PMID:24841412|REF_RGD_ID:9590209 11695972 HDAC2 histone deacetylase 2 gene DOID:8692 myeloid leukemia ISO RGD:1312509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21535412 11695972 HDAC2 histone deacetylase 2 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1312509 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:19147762|REF_RGD_ID:2306200 11695972 HDAC2 histone deacetylase 2 gene DOID:9000027 Microsatellite Instability ISO RGD:1312509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 11695972 HDAC2 histone deacetylase 2 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:1312510 D RGD:9068941 20200609 RGD PMID:23696608|REF_RGD_ID:9590210 11695972 HDAC2 histone deacetylase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1312509 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:24717296|REF_RGD_ID:9590311 11695972 HDAC2 histone deacetylase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1312510 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:24717296|REF_RGD_ID:9590311 11695972 HDAC2 histone deacetylase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:619976 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:24717296|REF_RGD_ID:9590311 11695972 HDAC2 histone deacetylase 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:619976 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland: PMID:24717552|REF_RGD_ID:9590296 11695972 HDAC2 histone deacetylase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1312509 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:17387270|REF_RGD_ID:2306215 11695972 HDAC2 histone deacetylase 2 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1312509 D RGD:9068941 20200609 RGD PMID:18714364|REF_RGD_ID:2306205 11695972 HDAC2 histone deacetylase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:1312509 D RGD:9068941 20200609 RGD DNA:mutations:colon: PMID:16642021|REF_RGD_ID:9590331 11695972 HDAC2 histone deacetylase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:1312509 D RGD:9068941 20200609 RGD mRNA:increased expression:colon: PMID:23724067|REF_RGD_ID:9590193 11695972 HDAC2 histone deacetylase 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1312509 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:19147762|REF_RGD_ID:2306200 11695972 HDAC2 histone deacetylase 2 gene DOID:9003936 Cardiomegaly ISO RGD:1312509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18625706 11695972 HDAC2 histone deacetylase 2 gene DOID:9003936 Cardiomegaly ISO RGD:1312510 D RGD:9068941 20200609 RGD protein:increased acetylation:heart: PMID:24526703|REF_RGD_ID:9590211 11695972 HDAC2 histone deacetylase 2 gene DOID:9003936 Cardiomegaly ISO RGD:1312510 D RGD:9068941 20200609 RGD protein:increased activity:heart: PMID:18849323|REF_RGD_ID:2306446 11695972 HDAC2 histone deacetylase 2 gene DOID:9004271 Colonic Polyps ISO RGD:1312510 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:19010907|REF_RGD_ID:9590323 11695972 HDAC2 histone deacetylase 2 gene DOID:9004271 Colonic Polyps treatment ISO RGD:619976 D RGD:9068941 20200609 RGD PMID:24218540|REF_RGD_ID:9590246 11695972 HDAC2 histone deacetylase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619976 D RGD:9068941 20200609 RGD protein:increased activity:renal cortex: PMID:19553350|REF_RGD_ID:9590229 11695972 HDAC2 histone deacetylase 2 gene DOID:9007096 Stroke ISO RGD:1312509 D RGD:9068941 20230225 RGD mRNA:decreased expression:lymphocyte PMID:31465536|REF_RGD_ID:156430320 11695972 HDAC2 histone deacetylase 2 gene DOID:9007096 Stroke ISO RGD:619976 D RGD:9068941 20200609 RGD PMID:24657831|REF_RGD_ID:9590303 11695972 HDAC2 histone deacetylase 2 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:1312509 D RGD:9068941 20200609 RGD PMID:18714364|REF_RGD_ID:2306205 11695972 HDAC2 histone deacetylase 2 gene DOID:9008023 Memory Disorders treatment ISO RGD:1312510 D RGD:9068941 20200609 RGD PMID:22388814|REF_RGD_ID:9590324 11695972 HDAC2 histone deacetylase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1312510 D RGD:9068941 20200609 RGD protein:increased activity:kidney: PMID:19553350|REF_RGD_ID:9590229 11695972 HDAC2 histone deacetylase 2 gene DOID:9675 pulmonary emphysema ISO RGD:1312510 D RGD:9068941 20200609 RGD mRNA,proetin:increased expression,increased activity,hyperphosphorylation,hypercarbonylation:lung: PMID:24040961|REF_RGD_ID:9590320 11695972 HDAC2 histone deacetylase 2 gene DOID:9675 pulmonary emphysema treatment ISO RGD:619976 D RGD:9068941 20200609 RGD PMID:23326540|REF_RGD_ID:9590245 11695972 HDAC2 histone deacetylase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1312509 D RGD:9068941 20200609 RGD protein:decreased expression:pancreatic beta cell: PMID:22772764|REF_RGD_ID:9590127 11695972 HDAC2 histone deacetylase 2 gene DOID:986 alopecia areata ISO RGD:1312509 D RGD:9068941 20200609 RGD mRNA:decreased expression:mononuclear cell: PMID:21936853|REF_RGD_ID:9587460 11695972 HDAC2 histone deacetylase 2 gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:1312509 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow,blood: PMID:23948281|REF_RGD_ID:9681454 11695995 ATP13A5 ATPase 13A5 gene DOID:5419 schizophrenia ISO RGD:1343803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11695995 ATP13A5 ATPase 13A5 gene DOID:630 genetic disease ISO RGD:1343803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696028 CCL1 C-C motif chemokine ligand 1 gene DOID:1063 interstitial nephritis ISO RGD:1353511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10385480 11696028 CCL1 C-C motif chemokine ligand 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1618405 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:11134301|REF_RGD_ID:4891417 11696028 CCL1 C-C motif chemokine ligand 1 gene DOID:2377 multiple sclerosis ISO RGD:1353511 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:c.*136G>A (rs3136682) (human) PMID:19865101|REF_RGD_ID:4145472 11696028 CCL1 C-C motif chemokine ligand 1 gene DOID:2527 nephrosis ISO RGD:1586495 D RGD:9068941 20200609 RGD PMID:10867541|REF_RGD_ID:4891422 11696028 CCL1 C-C motif chemokine ligand 1 gene DOID:2841 asthma ISO RGD:1353511 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:20455898|REF_RGD_ID:4891420 11696028 CCL1 C-C motif chemokine ligand 1 gene DOID:289 endometriosis ISO RGD:1353511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30579999 11696028 CCL1 C-C motif chemokine ligand 1 gene DOID:2921 glomerulonephritis ISO RGD:1353511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10385480 11696028 CCL1 C-C motif chemokine ligand 1 gene DOID:2921 glomerulonephritis ISO RGD:1586495 D RGD:9068941 20200609 RGD PMID:11157384|REF_RGD_ID:8693624 11696028 CCL1 C-C motif chemokine ligand 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1618405 D RGD:9068941 20200619 RGD mRNA: increased expression:lung (mouse) PMID:15356152|REF_RGD_ID:30309221 11696028 CCL1 C-C motif chemokine ligand 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:1618405 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, dendritic cell PMID:18703681|REF_RGD_ID:4891409 11696028 CCL1 C-C motif chemokine ligand 1 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1353511 D RGD:9068941 20200609 RGD DNA:SNP: :multiple (human) PMID:19057661|REF_RGD_ID:4891408 11696028 CCL1 C-C motif chemokine ligand 1 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1353511 D RGD:9068941 20200609 RGD DNA:SNP:enhancer:rs2282691 (human) PMID:16864713|REF_RGD_ID:4891410 11696028 CCL1 C-C motif chemokine ligand 1 gene DOID:399 tuberculosis susceptibility ISO RGD:1353511 D RGD:9068941 20200609 RGD DNA:SNP: :rs159294, rs210837, rs10491110 (human) PMID:19057661|REF_RGD_ID:4891408 11696028 CCL1 C-C motif chemokine ligand 1 gene DOID:4483 rhinitis ISO RGD:1353511 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium PMID:17982926|REF_RGD_ID:4145109 11696028 CCL1 C-C motif chemokine ligand 1 gene DOID:630 genetic disease ISO RGD:1353511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696028 CCL1 C-C motif chemokine ligand 1 gene DOID:6432 pulmonary hypertension ISO RGD:1353511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22507635 11696028 CCL1 C-C motif chemokine ligand 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1618405 D RGD:9068941 20210423 RGD mRNA:increased expression:liver (mouse) PMID:26569409|REF_RGD_ID:11344640 11696028 CCL1 C-C motif chemokine ligand 1 gene DOID:9001472 Nasal Polyps ISO RGD:1353511 D RGD:9068941 20200609 RGD associated with Sinusitis PMID:20598643|REF_RGD_ID:4891418 11696028 CCL1 C-C motif chemokine ligand 1 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1618405 D RGD:9068941 20200609 RGD associated with Schistosomiasis mansoni PMID:12600821|REF_RGD_ID:4145441 11696028 CCL1 C-C motif chemokine ligand 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1586495 D RGD:9068941 20200609 RGD mRNA:decreased expression:lymph node PMID:19865101|REF_RGD_ID:4145472 11696028 CCL1 C-C motif chemokine ligand 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11696028 CCL1 C-C motif chemokine ligand 1 gene DOID:9498 pulmonary eosinophilia ISO RGD:1618405 D RGD:9068941 20200609 RGD associated with Asthma PMID:12707363|REF_RGD_ID:4891412 11696035 KCNG1 potassium voltage-gated channel modifier subfamily G member 1 gene DOID:630 genetic disease ISO RGD:1604067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696058 PREP prolyl endopeptidase gene DOID:10914 amnestic disorder ISO RGD:732518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8691432 11696058 PREP prolyl endopeptidase gene DOID:1596 depressive disorder ISO RGD:620841 D RGD:9068941 20211224 RGD protein:altered activity:frontal cortex, striatum, hypothalamus (rat) PMID:17415460|REF_RGD_ID:1626457 11696058 PREP prolyl endopeptidase gene DOID:4543 retrograde amnesia ISO RGD:732518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18318186 11696058 PREP prolyl endopeptidase gene DOID:630 genetic disease ISO RGD:732518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696058 PREP prolyl endopeptidase gene DOID:9000217 Stomach Neoplasms ISO RGD:732518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11696058 PREP prolyl endopeptidase gene DOID:9000918 Disease Progression ISO RGD:732518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11696076 IPO5 importin 5 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1603712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 11696076 IPO5 importin 5 gene DOID:3910 lung adenocarcinoma ISO RGD:1603712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11696076 IPO5 importin 5 gene DOID:630 genetic disease ISO RGD:1603712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696076 IPO5 importin 5 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1603712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11696076 IPO5 importin 5 gene DOID:9006205 Animal Disease Models ISO RGD:1603712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11696105 KBTBD2 kelch repeat and BTB domain containing 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11696105 KBTBD2 kelch repeat and BTB domain containing 2 gene DOID:630 genetic disease ISO RGD:1321151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696122 PPP1R3C protein phosphatase 1 regulatory subunit 3C gene DOID:10283 prostate cancer ISO RGD:1319302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11696122 PPP1R3C protein phosphatase 1 regulatory subunit 3C gene DOID:630 genetic disease ISO RGD:1319302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696122 PPP1R3C protein phosphatase 1 regulatory subunit 3C gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11696122 PPP1R3C protein phosphatase 1 regulatory subunit 3C gene DOID:9352 type 2 diabetes mellitus ISO RGD:1319303 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 11696137 TAS2R50 taste 2 receptor member 50 gene DOID:630 genetic disease ISO RGD:1347594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696142 LIPM lipase family member M gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1312623 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:18456716|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9467011 11696142 LIPM lipase family member M gene DOID:630 genetic disease ISO RGD:1312623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696142 LIPM lipase family member M gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1312623 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532 11696159 TMPRSS2 transmembrane serine protease 2 gene DOID:11132 prostatic hypertrophy ISO RGD:1354092 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18338334|REF_RGD_ID:2324904 11696159 TMPRSS2 transmembrane serine protease 2 gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:1354092 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:prostate gland PMID:18338334|REF_RGD_ID:2324904 11696159 TMPRSS2 transmembrane serine protease 2 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:733656 D RGD:9068941 20200618 RGD PMID:30626688|REF_RGD_ID:30309210 11696177 SMIM5 small integral membrane protein 5 gene DOID:630 genetic disease ISO RGD:5132337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696187 C11H11orf68 chromosome 11 C11orf68 homolog gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1602858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 11696187 C11H11orf68 chromosome 11 C11orf68 homolog gene DOID:1059 intellectual disability ISO RGD:1602858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11696187 C11H11orf68 chromosome 11 C11orf68 homolog gene DOID:1909 melanoma ISO RGD:1602858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11696187 C11H11orf68 chromosome 11 C11orf68 homolog gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11696187 C11H11orf68 chromosome 11 C11orf68 homolog gene DOID:2746 glycogen storage disease V ISO RGD:1602858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11696187 C11H11orf68 chromosome 11 C11orf68 homolog gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1602858 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11696187 C11H11orf68 chromosome 11 C11orf68 homolog gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1602858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11696213 FN1 fibronectin 1 gene DOID:0050855 renal fibrosis ISO RGD:10594 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:22052058|REF_RGD_ID:9068421 11696213 FN1 fibronectin 1 gene DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type ISO RGD:736627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Strudwick type | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia PMID:15666313|PMID:1677003|PMID:25741868|PMID:28492532|PMID:29100092|PMID:30599297|PMID:32200603|PMID:33605604 11696213 FN1 fibronectin 1 gene DOID:0080600 COVID-19 ISO RGD:736627 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11696213 FN1 fibronectin 1 gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:2624 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:11025758|REF_RGD_ID:7206846 11696213 FN1 fibronectin 1 gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:736627 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:19616291|REF_RGD_ID:7206842 11696213 FN1 fibronectin 1 gene DOID:0110034 X-linked Alport syndrome ISO RGD:736627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked Alport syndrome PMID:25741868|PMID:28492532 11696213 FN1 fibronectin 1 gene DOID:0111563 Sturge-Weber syndrome ISO RGD:736627 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex PMID:12621118|REF_RGD_ID:1358624 11696213 FN1 fibronectin 1 gene DOID:0112295 spondylometaphyseal dysplasia ISO RGD:736627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia PMID:15666313|PMID:1677003|PMID:25741868|PMID:28492532|PMID:29100092|PMID:30599297|PMID:32200603|PMID:33605604 11696213 FN1 fibronectin 1 gene DOID:0112297 spondylometaphyseal dysplasia corner fracture type ISO RGD:736627 D RGD:7240710 20190315 OMIM 11696213 FN1 fibronectin 1 gene DOID:0112297 spondylometaphyseal dysplasia corner fracture type ISO RGD:736627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type PMID:15666313|PMID:1677003|PMID:25741868|PMID:28492532|PMID:29100092|PMID:32200603|PMID:33605604 11696213 FN1 fibronectin 1 gene DOID:10763 hypertension ISO RGD:2624 D RGD:9068941 20200903 RGD mRNA:increased expression:kidney (SHRSP/A3N rat) PMID:11682445|PMID:11907153|REF_RGD_ID:28912746|REF_RGD_ID:30296650 11696213 FN1 fibronectin 1 gene DOID:10763 hypertension ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11682445|PMID:17324946 11696213 FN1 fibronectin 1 gene DOID:11054 urinary bladder cancer ISO RGD:736627 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:20012564|REF_RGD_ID:7205680 11696213 FN1 fibronectin 1 gene DOID:11372 megacolon ISO RGD:736627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11696213 FN1 fibronectin 1 gene DOID:11713 diabetic angiopathy ISO RGD:2624 D RGD:9068941 20200609 RGD PMID:12716757|REF_RGD_ID:1601179 11696213 FN1 fibronectin 1 gene DOID:11758 iron deficiency anemia ISO RGD:2624 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus: PMID:18723004|REF_RGD_ID:2301196 11696213 FN1 fibronectin 1 gene DOID:1184 nephrotic syndrome ISO RGD:736627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:29127259 11696213 FN1 fibronectin 1 gene DOID:12897 submandibular gland disease ISO RGD:2624 D RGD:9068941 20200609 RGD PMID:19097859|REF_RGD_ID:7205460 11696213 FN1 fibronectin 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16191423 11696213 FN1 fibronectin 1 gene DOID:14679 VACTERL association ISO RGD:2624 D RGD:9068941 20200609 RGD protein:increased expression:embryo PMID:14986037|REF_RGD_ID:7205466 11696213 FN1 fibronectin 1 gene DOID:1591 renovascular hypertension ISO RGD:2624 D RGD:9068941 20200609 RGD PMID:17324142|REF_RGD_ID:7205461 11696213 FN1 fibronectin 1 gene DOID:1790 malignant mesothelioma ISO RGD:736627 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 11696213 FN1 fibronectin 1 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:2624 D RGD:9068941 20200609 RGD PMID:10082755|REF_RGD_ID:7206847 11696213 FN1 fibronectin 1 gene DOID:2921 glomerulonephritis disease_progression ISO RGD:736627 D RGD:9068941 20200609 RGD PMID:20484935|REF_RGD_ID:7206839 11696213 FN1 fibronectin 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:10594 D RGD:9068941 20200625 RGD protein:increased expression:lung (mouse) PMID:23919993|REF_RGD_ID:30310231 11696213 FN1 fibronectin 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:736627 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:15925904|REF_RGD_ID:7206844 11696213 FN1 fibronectin 1 gene DOID:3021 acute kidney failure ISO RGD:2624 D RGD:9068941 20200609 RGD PMID:12884040|REF_RGD_ID:7205684 11696213 FN1 fibronectin 1 gene DOID:3021 acute kidney failure ISO RGD:2624 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:11768240|REF_RGD_ID:729934 11696213 FN1 fibronectin 1 gene DOID:305 carcinoma ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11696213 FN1 fibronectin 1 gene DOID:3068 glioblastoma ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17099729 11696213 FN1 fibronectin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26817844 11696213 FN1 fibronectin 1 gene DOID:4450 renal cell carcinoma severity ISO RGD:736627 D RGD:9068941 20200609 RGD PMID:20860816|REF_RGD_ID:7205637 11696213 FN1 fibronectin 1 gene DOID:5199 ureteral obstruction ISO RGD:2624 D RGD:9068941 20200609 RGD PMID:12218318|REF_RGD_ID:7205473 11696213 FN1 fibronectin 1 gene DOID:5199 ureteral obstruction ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 11696213 FN1 fibronectin 1 gene DOID:57 aortic valve insufficiency ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 11696213 FN1 fibronectin 1 gene DOID:5844 myocardial infarction ISO RGD:2624 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:19695229|REF_RGD_ID:2325720 11696213 FN1 fibronectin 1 gene DOID:630 genetic disease ISO RGD:736627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28166811|PMID:28492532|PMID:29100092 11696213 FN1 fibronectin 1 gene DOID:783 end stage renal disease ISO RGD:736627 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:6665521|REF_RGD_ID:7205701 11696213 FN1 fibronectin 1 gene DOID:784 chronic kidney disease ISO RGD:736627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 11696213 FN1 fibronectin 1 gene DOID:8398 osteoarthritis ISO RGD:736627 D RGD:9068941 20200609 RGD protein:increased expression:cartilage: PMID:8646429|REF_RGD_ID:10402156 11696213 FN1 fibronectin 1 gene DOID:8778 Crohn's disease ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19751734 11696213 FN1 fibronectin 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:736627 D RGD:9068941 20200609 RGD PMID:20347014|REF_RGD_ID:7205459 11696213 FN1 fibronectin 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11696213 FN1 fibronectin 1 gene DOID:9000955 Acute Otitis Media ISO RGD:8845050 D RGD:9068941 20200609 RGD PMID:10453785|REF_RGD_ID:11556224 11696213 FN1 fibronectin 1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:736627 D RGD:9068941 20220616 RGD associated with stomach cancer; human cells in mouse model PMID:27431311|REF_RGD_ID:152995400 11696213 FN1 fibronectin 1 gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:2624 D RGD:9068941 20200609 RGD PMID:12065530|REF_RGD_ID:7205474 11696213 FN1 fibronectin 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2624 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:15980055|REF_RGD_ID:1625201 11696213 FN1 fibronectin 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2624 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:19914391|REF_RGD_ID:4140452 11696213 FN1 fibronectin 1 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2624 D RGD:9068941 20200609 RGD PMID:12651615|REF_RGD_ID:7205470 11696213 FN1 fibronectin 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:10594 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA:increased expression:kidney PMID:16301823|REF_RGD_ID:7206843 11696213 FN1 fibronectin 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413998 11696213 FN1 fibronectin 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2624 D RGD:9068941 20200609 RGD protein:increased expression:kidney cortex: PMID:22736507|REF_RGD_ID:10402169 11696213 FN1 fibronectin 1 gene DOID:9003139 Cardiac Fibrosis ISO RGD:2624 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart: PMID:23383330|REF_RGD_ID:10402158 11696213 FN1 fibronectin 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11696213 FN1 fibronectin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11696213 FN1 fibronectin 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 11696213 FN1 fibronectin 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181017 11696213 FN1 fibronectin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11696213 FN1 fibronectin 1 gene DOID:9005563 Glomerulopathy with Giant Fibrillar Deposits ISO RGD:736627 D RGD:7240710 20180130 OMIM 11696213 FN1 fibronectin 1 gene DOID:9005563 Glomerulopathy with Giant Fibrillar Deposits ISO RGD:736627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 PMID:12042895|PMID:1544672|PMID:17576681|PMID:18268355|PMID:25741868|PMID:28492532|PMID:29100092|PMID:30599297|PMID:32200603|PMID:7747733|PMID:9536098 11696213 FN1 fibronectin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2624 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:22937115|REF_RGD_ID:7206838 11696213 FN1 fibronectin 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2624 D RGD:9068941 20200609 RGD PMID:22228707|REF_RGD_ID:7296926 11696213 FN1 fibronectin 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2624 D RGD:9068941 20200609 RGD PMID:11352844|REF_RGD_ID:7205629 11696213 FN1 fibronectin 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 11696213 FN1 fibronectin 1 gene DOID:9008691 Liver Injury ISO RGD:2624 D RGD:9068941 20200609 RGD PMID:7806580|REF_RGD_ID:7205469 11696213 FN1 fibronectin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 11696213 FN1 fibronectin 1 gene DOID:9351 diabetes mellitus ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20551625 11696213 FN1 fibronectin 1 gene DOID:9351 diabetes mellitus ISO RGD:736627 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:11213886|REF_RGD_ID:7206845 11696213 FN1 fibronectin 1 gene DOID:936 brain disease ISO RGD:736627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868 11696292 RWDD3 RWD domain containing 3 gene DOID:630 genetic disease ISO RGD:1314557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:0050336 hypophosphatemia ISO RGD:3708 D RGD:9068941 20200609 RGD protein:altered expression:renal cortex, brush border membrane (rat) PMID:20466874|REF_RGD_ID:7243098 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:0050336 hypophosphatemia ISO RGD:733686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9560283 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:0050336 hypophosphatemia ISO RGD:736512 D RGD:9068941 20200609 RGD PMID:19515808|PMID:9560283|REF_RGD_ID:7242939|REF_RGD_ID:7243007 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:0050336 hypophosphatemia ISO RGD:736512 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney (mouse) PMID:19933269|REF_RGD_ID:7242942 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:0050459 hyperphosphatemia ISO RGD:736512 D RGD:9068941 20200609 RGD PMID:20418498|REF_RGD_ID:7243099 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:0050459 hyperphosphatemia ISO RGD:736512 D RGD:9068941 20200609 RGD protein:increased expression:kidney (mouse) PMID:18835926|REF_RGD_ID:7242940 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:733686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria ISO RGD:733686 D RGD:9068941 20200609 RGD DNA:deletions, snps:multiple (human) PMID:16358215|REF_RGD_ID:7242925 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria ISO RGD:736512 D RGD:9068941 20200609 RGD PMID:19570882|REF_RGD_ID:7242924 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria ISO RGD:736512 D RGD:9068941 20220825 MouseDO OMIM:241530 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:0060903 thrombosis ISO RGD:733686 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thrombus PMID:25741868 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:0080006 bone development disease ISO RGD:733686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9560283 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:0080077 hypophosphatemic nephrolithiasis/osteoporosis 1 ISO RGD:733686 D RGD:7240710 20180130 OMIM 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:0080077 hypophosphatemic nephrolithiasis/osteoporosis 1 ISO RGD:733686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 PMID:12324554|PMID:14672348|PMID:16199547|PMID:16688119|PMID:17576681|PMID:24033266|PMID:25050900|PMID:25082825|PMID:25741868|PMID:26047794|PMID:26272126|PMID:26787776|PMID:27378183|PMID:28492532|PMID:28893421|PMID:29959532|PMID:30778725|PMID:30943683|PMID:31672324|PMID:33099630|PMID:9536098 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:0080655 hypophosphatemic nephrolithiasis/osteoporosis ISO RGD:733686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic PMID:17576681|PMID:21920016|PMID:23348723|PMID:24029428|PMID:24033266|PMID:25050900|PMID:25524745|PMID:25741868|PMID:28492532|PMID:30943683|PMID:8528215|PMID:9354665|PMID:9536098 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:733686 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:0080758 Fanconi renotubular syndrome 2 ISO RGD:733686 D RGD:7240710 20190327 OMIM 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:0080758 Fanconi renotubular syndrome 2 ISO RGD:733686 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fanconi renotubular syndrome 2 PMID:20335586|PMID:24033266|PMID:25741868|PMID:26047794|PMID:26787776|PMID:2842681|PMID:28492532|PMID:35738466 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:0080940 hereditary angioedema type III ISO RGD:733686 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ESTROGEN-SENSITIVE HAE | ClinVar Annotator: match by term: Hereditary angioedema, type III PMID:10984376|PMID:16638441|PMID:17186468|PMID:17825897|PMID:19178938|PMID:19474702|PMID:20490261|PMID:22920075|PMID:24033266|PMID:25741868|PMID:25744496|PMID:25790805|PMID:27130860|PMID:28492532 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:733686 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:10283 prostate cancer ISO RGD:733686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:1062 Fanconi syndrome ISO RGD:733686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:1062 Fanconi syndrome ISO RGD:733686 D RGD:9068941 20200609 RGD DNA:duplication:exon:g.2061_2081dup (human) PMID:20335586|REF_RGD_ID:7242923 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:10763 hypertension ISO RGD:733686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertension PMID:16638441|PMID:25741868 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:11111 hydronephrosis ISO RGD:736512 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:p.A499V, p.V528M (mouse) PMID:18550648|REF_RGD_ID:7243122 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:1227 neutropenia ISO RGD:733686 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:28492532 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:12678 hypercalcemia ISO RGD:733686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9560283 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:12679 nephrocalcinosis ISO RGD:733686 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:16199547|PMID:16688119|PMID:25741868|PMID:26047794|PMID:28492532|PMID:28893421|PMID:29959532 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:1459 hypothyroidism ISO RGD:3708 D RGD:9068941 20200609 RGD protein:decreased expression:renal cortex, brush border membrane (rat) PMID:17409279|REF_RGD_ID:7243134 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:14735 hereditary angioedema ISO RGD:733686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary angioneurotic edema PMID:10984376|PMID:16638441|PMID:17186468|PMID:17825897|PMID:19178938|PMID:19474702|PMID:20490261|PMID:22920075|PMID:24033266|PMID:25050900|PMID:25741868|PMID:25744496|PMID:25790805|PMID:27130860|PMID:28492532|PMID:30943683 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:1555 urticaria ISO RGD:733686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Urticaria PMID:16638441|PMID:25741868 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:1558 angioedema ISO RGD:733686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angioedema PMID:16638441|PMID:25741868 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:2231 factor XII deficiency ISO RGD:733686 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar Annotator: match by term: Factor XII deficiency disease PMID:10984376|PMID:16638441|PMID:17186468|PMID:17576681|PMID:17825897|PMID:19178938|PMID:19474702|PMID:20490261|PMID:21920016|PMID:22920075|PMID:23348723|PMID:24029428|PMID:24033266|PMID:25050900|PMID:25524745|PMID:25741868|PMID:25744496|PMID:25790805|PMID:27130860|PMID:28492532|PMID:30943683|PMID:8528215|PMID:9354665|PMID:9536098 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:2741 bilirubin metabolic disorder ISO RGD:733686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperbilirubinemia PMID:16638441|PMID:25741868 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:3021 acute kidney failure disease_progression ISO RGD:736512 D RGD:9068941 20200609 RGD associated with Sepsis; protein:decreased expression:renal proximal tubule (mouse) PMID:19729856|REF_RGD_ID:7242943 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:736512 D RGD:9068941 20200609 RGD protein:decreased expression:kidney, brush border membrane (mouse) PMID:19193726|REF_RGD_ID:7242947 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:585 nephrolithiasis ISO RGD:733686 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS4+54C>T rs3812036 (human) PMID:22396660|REF_RGD_ID:7242927 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:585 nephrolithiasis onset ISO RGD:736512 D RGD:9068941 20200609 RGD associated with Hyperoxaluria PMID:18337544|REF_RGD_ID:7243005 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:630 genetic disease ISO RGD:733686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:783 end stage renal disease ISO RGD:3708 D RGD:9068941 20200609 RGD mRNA:decreased expression:renal cortex (rat) PMID:15452708|REF_RGD_ID:7242930 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:784 chronic kidney disease ISO RGD:3708 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney (rat) PMID:21826734|REF_RGD_ID:7242935 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:784 chronic kidney disease ISO RGD:733686 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS9+122A>G rs6420094 (human) PMID:20383146|REF_RGD_ID:7243100 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:7998 hyperthyroidism ISO RGD:3708 D RGD:9068941 20200609 RGD protein:increased expression:renal cortex, brush border membrane (rat) PMID:10098486|REF_RGD_ID:7243131 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:898 autosomal dominant polycystic kidney disease disease_progression ISO RGD:3708 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:renal cortex (rat) PMID:11004225|REF_RGD_ID:7242933 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:9000264 Hypercalcemia, Infantile, 2 ISO RGD:733686 D RGD:7240710 20190315 OMIM 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:9000264 Hypercalcemia, Infantile, 2 ISO RGD:733686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypercalcemia, infantile, 2 PMID:16199547|PMID:20466674|PMID:24033266|PMID:25741868|PMID:26047794|PMID:26787776|PMID:28492532|PMID:28893421|PMID:29959532|PMID:33099630 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:9001738 Hypercalciuria ISO RGD:733686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9560283 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:9001738 Hypercalciuria ISO RGD:736512 D RGD:9068941 20200609 RGD PMID:21784483|REF_RGD_ID:7242936 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:9002802 Acidoses ISO RGD:3708 D RGD:9068941 20200609 RGD protein:altered expression:kidney, brush border membrane (rat) PMID:19439519|REF_RGD_ID:7242944 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:9002802 Acidoses ISO RGD:736512 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney (mouse) PMID:18535837|REF_RGD_ID:7242948 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:9004009 Reperfusion Injury ISO RGD:3708 D RGD:9068941 20200609 RGD protein:decreased expression:renal proximal tubule PMID:15775707|REF_RGD_ID:2311304 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:9005216 Infantile Hypercalcemia ISO RGD:733686 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypercalcemia, infantile PMID:24033266|PMID:25741868 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:9005267 Potassium Deficiency ISO RGD:3708 D RGD:9068941 20200609 RGD protein:decreased expression:renal cortex, brush border membrane (rat) PMID:15355967|REF_RGD_ID:7243096 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:3708 D RGD:9068941 20200609 RGD protein:decreased expression:renal proximal tubule, brush border membrane (rat) PMID:15775707|REF_RGD_ID:2311304 11696320 SLC34A1 solute carrier family 34 member 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:733686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11696349 SBNO2 strawberry notch homolog 2 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1316240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 11696349 SBNO2 strawberry notch homolog 2 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1316240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 11696349 SBNO2 strawberry notch homolog 2 gene DOID:5339 cyclic hematopoiesis ISO RGD:1316240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11696349 SBNO2 strawberry notch homolog 2 gene DOID:630 genetic disease ISO RGD:1316240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696385 DBN1 drebrin 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:732725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11696385 DBN1 drebrin 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:732725 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11696385 DBN1 drebrin 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:732725 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 11696385 DBN1 drebrin 1 gene DOID:10652 Alzheimer's disease ISO RGD:732725 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampal formation: PMID:8838578|REF_RGD_ID:10395286 11696385 DBN1 drebrin 1 gene DOID:10652 Alzheimer's disease ISO RGD:737436 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus,neuronal spine: PMID:17912741|REF_RGD_ID:10398820 11696385 DBN1 drebrin 1 gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:732725 D RGD:9068941 20200609 RGD mRNA:decreased expression:parietal cortex, temporal cortex, hippocampus: PMID:18338803|REF_RGD_ID:10398821 11696385 DBN1 drebrin 1 gene DOID:11446 sciatic neuropathy ISO RGD:70885 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:11578820|REF_RGD_ID:10398813 11696385 DBN1 drebrin 1 gene DOID:14250 Down syndrome ISO RGD:732725 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex, temporal cortex: PMID:12009525|REF_RGD_ID:10398822 11696385 DBN1 drebrin 1 gene DOID:14330 Parkinson's disease treatment ISO RGD:70885 D RGD:9068941 20200609 RGD levodopainduced; protein:increased expression:striatum: PMID:23241013|REF_RGD_ID:10398811 11696385 DBN1 drebrin 1 gene DOID:1561 cognitive disorder ISO RGD:70885 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:21440628|REF_RGD_ID:10398818 11696385 DBN1 drebrin 1 gene DOID:1561 cognitive disorder ISO RGD:732725 D RGD:9068941 20200609 RGD protein:altered expression:superior temporal cortex, superior temporal cortex: PMID:16783169|REF_RGD_ID:10398823 11696385 DBN1 drebrin 1 gene DOID:224 transient cerebral ischemia ISO RGD:70885 D RGD:9068941 20200609 RGD PMID:8583659|REF_RGD_ID:10398814 11696385 DBN1 drebrin 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:70885 D RGD:9068941 20200609 RGD mRNA,protein:altered expression:hippocampus: PMID:21240918|REF_RGD_ID:10398806 11696385 DBN1 drebrin 1 gene DOID:630 genetic disease ISO RGD:732725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696385 DBN1 drebrin 1 gene DOID:8927 learning disability ISO RGD:737436 D RGD:9068941 20200609 RGD PMID:19837137|REF_RGD_ID:10398819 11696385 DBN1 drebrin 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:732725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11696385 DBN1 drebrin 1 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:70885 D RGD:9068941 20200609 RGD levodopainduced; protein:increased expression:striatum: PMID:23241013|REF_RGD_ID:10398811 11696401 PSMG1 proteasome assembly chaperone 1 gene DOID:12849 autistic disorder ISO RGD:1313491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11696401 PSMG1 proteasome assembly chaperone 1 gene DOID:630 genetic disease ISO RGD:1313491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696401 PSMG1 proteasome assembly chaperone 1 gene DOID:8577 ulcerative colitis ISO RGD:1313491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 11696464 EDARADD EDAR associated via death domain gene DOID:0050591 tooth agenesis ISO RGD:1351297 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Tooth agenesis PMID:25741868 11696464 EDARADD EDAR associated via death domain gene DOID:0111653 ectodermal dysplasia 11A ISO RGD:1351297 D RGD:7240710 20230420 OMIM 11696464 EDARADD EDAR associated via death domain gene DOID:0111653 ectodermal dysplasia 11A ISO RGD:1351297 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant PMID:11780064|PMID:17354266|PMID:20222921|PMID:20979233|PMID:21626677|PMID:25640679|PMID:25741868|PMID:28492532 11696464 EDARADD EDAR associated via death domain gene DOID:0111654 ectodermal dysplasia 11B ISO RGD:1351297 D RGD:7240710 20230420 OMIM 11696464 EDARADD EDAR associated via death domain gene DOID:0111654 ectodermal dysplasia 11B ISO RGD:1351297 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive PMID:11780064|PMID:17354266|PMID:25741868|PMID:26991760|PMID:28492532|PMID:9245989 11696464 EDARADD EDAR associated via death domain gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1351297 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant PMID:11780064|PMID:17354266|PMID:20222921|PMID:9245989 11696464 EDARADD EDAR associated via death domain gene DOID:0111665 ectodermal dysplasia 10B ISO RGD:1351297 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive 11696464 EDARADD EDAR associated via death domain gene DOID:10754 otitis media ISO RGD:1564010 D RGD:9068941 20230427 RGD PMID:31028034|REF_RGD_ID:14398763 11696464 EDARADD EDAR associated via death domain gene DOID:14793 hypohidrotic ectodermal dysplasia ISO RGD:1351297 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia PMID:20222921|PMID:20979233|PMID:21626677|PMID:25741868|PMID:28492532 11696464 EDARADD EDAR associated via death domain gene DOID:1540 parathyroid carcinoma ISO RGD:1351297 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11696464 EDARADD EDAR associated via death domain gene DOID:2121 ectodermal dysplasia ISO RGD:1351297 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Recessive PMID:25741868|PMID:28492532 11696464 EDARADD EDAR associated via death domain gene DOID:630 genetic disease ISO RGD:1351297 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696464 EDARADD EDAR associated via death domain gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351297 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11696473 TTLL6 tubulin tyrosine ligase like 6 gene DOID:630 genetic disease ISO RGD:1605245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696504 GSAP gamma-secretase activating protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11696504 GSAP gamma-secretase activating protein gene DOID:630 genetic disease ISO RGD:1604809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696504 GSAP gamma-secretase activating protein gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1604809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 11696541 LOC100969613 putative olfactory receptor 2B3 gene DOID:11372 megacolon ISO RGD:1351242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11696541 LOC100969613 putative olfactory receptor 2B3 gene DOID:2772 irritant dermatitis ISO RGD:1351242 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27258892 11696541 LOC100969613 putative olfactory receptor 2B3 gene DOID:630 genetic disease ISO RGD:1351242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696546 SLC16A5 solute carrier family 16 member 5 gene DOID:630 genetic disease ISO RGD:1351583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696567 GPR84 G protein-coupled receptor 84 gene DOID:630 genetic disease ISO RGD:1323208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696573 CXCR5 C-X-C motif chemokine receptor 5 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1345690 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11696573 CXCR5 C-X-C motif chemokine receptor 5 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1345690 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11696573 CXCR5 C-X-C motif chemokine receptor 5 gene DOID:0080690 RASopathy ISO RGD:1345690 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11696573 CXCR5 C-X-C motif chemokine receptor 5 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1345690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 11696573 CXCR5 C-X-C motif chemokine receptor 5 gene DOID:0110651 long QT syndrome 10 ISO RGD:1345690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11696573 CXCR5 C-X-C motif chemokine receptor 5 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1345690 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11696573 CXCR5 C-X-C motif chemokine receptor 5 gene DOID:0111971 immunodeficiency 18 ISO RGD:1345690 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11696573 CXCR5 C-X-C motif chemokine receptor 5 gene DOID:0111972 immunodeficiency 19 ISO RGD:1345690 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11696573 CXCR5 C-X-C motif chemokine receptor 5 gene DOID:0111973 immunodeficiency 17 ISO RGD:1345690 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11696573 CXCR5 C-X-C motif chemokine receptor 5 gene DOID:12236 primary biliary cholangitis ISO RGD:1345690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21399635 11696573 CXCR5 C-X-C motif chemokine receptor 5 gene DOID:630 genetic disease ISO RGD:1345690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696573 CXCR5 C-X-C motif chemokine receptor 5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11696573 CXCR5 C-X-C motif chemokine receptor 5 gene DOID:9007661 Dwarfism ISO RGD:1345690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11696579 KCNA10 potassium voltage-gated channel subfamily A member 10 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1312242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 11696579 KCNA10 potassium voltage-gated channel subfamily A member 10 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1312242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11696579 KCNA10 potassium voltage-gated channel subfamily A member 10 gene DOID:12849 autistic disorder ISO RGD:1312242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11696579 KCNA10 potassium voltage-gated channel subfamily A member 10 gene DOID:3426 vestibular disease ISO RGD:1621289 D RGD:9068941 20220825 MouseDO 11696579 KCNA10 potassium voltage-gated channel subfamily A member 10 gene DOID:630 genetic disease ISO RGD:1312242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696594 MEIOB meiosis specific with OB-fold gene DOID:0070177 spermatogenic failure 22 ISO RGD:1604193 D RGD:7240710 20190315 OMIM 11696594 MEIOB meiosis specific with OB-fold gene DOID:0070177 spermatogenic failure 22 ISO RGD:1604193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 22 PMID:28206990 11696594 MEIOB meiosis specific with OB-fold gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1604193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 11696594 MEIOB meiosis specific with OB-fold gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11696594 MEIOB meiosis specific with OB-fold gene DOID:14227 azoospermia ISO RGD:1604193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 11696594 MEIOB meiosis specific with OB-fold gene DOID:1826 epilepsy ISO RGD:1604193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11696594 MEIOB meiosis specific with OB-fold gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11696594 MEIOB meiosis specific with OB-fold gene DOID:630 genetic disease ISO RGD:1604193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696608 EFHB EF-hand domain family member B gene DOID:0060417 3p deletion syndrome ISO RGD:1349676 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 11696608 EFHB EF-hand domain family member B gene DOID:630 genetic disease ISO RGD:1349676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696625 RPS28 ribosomal protein S28 gene DOID:0080490 mucolipidosis type IV ISO RGD:735338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 11696625 RPS28 ribosomal protein S28 gene DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ISO RGD:735338 D RGD:7240710 20180130 OMIM 11696625 RPS28 ribosomal protein S28 gene DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ISO RGD:735338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis PMID:24942156|PMID:25741868 11696625 RPS28 ribosomal protein S28 gene DOID:12849 autistic disorder ISO RGD:735338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11696625 RPS28 ribosomal protein S28 gene DOID:630 genetic disease ISO RGD:735338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696625 RPS28 ribosomal protein S28 gene DOID:9004657 Weight Gain ISO RGD:735338 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11696633 BEST3 bestrophin 3 gene DOID:0060224 atrial fibrillation ISO RGD:1313470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 11696633 BEST3 bestrophin 3 gene DOID:630 genetic disease ISO RGD:1313470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696664 FTHL17 ferritin heavy chain like 17 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11696664 FTHL17 ferritin heavy chain like 17 gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:1347675 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked PMID:17504899|PMID:20685758|PMID:21408189|PMID:26980296|PMID:28492532 11696664 FTHL17 ferritin heavy chain like 17 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1347675 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:12632325|PMID:19937601|PMID:22510846|PMID:23453023|PMID:24302611|PMID:24504883|PMID:28492532|PMID:31705731 11696664 FTHL17 ferritin heavy chain like 17 gene DOID:12849 autistic disorder ISO RGD:1347675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11696664 FTHL17 ferritin heavy chain like 17 gene DOID:630 genetic disease ISO RGD:1347675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696664 FTHL17 ferritin heavy chain like 17 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11696664 FTHL17 ferritin heavy chain like 17 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1347675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 11696669 TNN tenascin N gene DOID:1540 parathyroid carcinoma ISO RGD:1314366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11696669 TNN tenascin N gene DOID:3755 antithrombin III deficiency ISO RGD:1314366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 11696669 TNN tenascin N gene DOID:630 genetic disease ISO RGD:1314366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696669 TNN tenascin N gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1314366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 11696669 TNN tenascin N gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11696695 LRFN4 leucine rich repeat and fibronectin type III domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1350359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11696695 LRFN4 leucine rich repeat and fibronectin type III domain containing 4 gene DOID:3651 pyruvate carboxylase deficiency disease ISO RGD:1350359 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pyruvate carboxylase deficiency PMID:12112657|PMID:19306334|PMID:25741868|PMID:28492532 11696695 LRFN4 leucine rich repeat and fibronectin type III domain containing 4 gene DOID:630 genetic disease ISO RGD:1350359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696695 LRFN4 leucine rich repeat and fibronectin type III domain containing 4 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1350359 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11696695 LRFN4 leucine rich repeat and fibronectin type III domain containing 4 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1350359 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11696702 CPSF6 cleavage and polyadenylation specific factor 6 gene DOID:630 genetic disease ISO RGD:1312196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696716 LAS1L LAS1 like ribosome biogenesis factor gene DOID:0060041 autism spectrum disorder ISO RGD:1354295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11696716 LAS1L LAS1 like ribosome biogenesis factor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11696716 LAS1L LAS1 like ribosome biogenesis factor gene DOID:0060814 Wilson-Turner syndrome ISO RGD:1354295 D RGD:7240710 20190315 OMIM 11696716 LAS1L LAS1 like ribosome biogenesis factor gene DOID:0060814 Wilson-Turner syndrome ISO RGD:1354295 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wilson-Turner syndrome PMID:1746601|PMID:24647030|PMID:25644381|PMID:25741868|PMID:28492532 11696716 LAS1L LAS1 like ribosome biogenesis factor gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1354295 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:9383023 11696716 LAS1L LAS1 like ribosome biogenesis factor gene DOID:1059 intellectual disability ISO RGD:1354295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11696716 LAS1L LAS1 like ribosome biogenesis factor gene DOID:12849 autistic disorder ISO RGD:1354295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11696716 LAS1L LAS1 like ribosome biogenesis factor gene DOID:630 genetic disease ISO RGD:1354295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11696716 LAS1L LAS1 like ribosome biogenesis factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11696716 LAS1L LAS1 like ribosome biogenesis factor gene DOID:9008086 Developmental Disabilities ISO RGD:1354295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25644381|PMID:28492532 11696741 BRD7 bromodomain containing 7 gene DOID:0080199 colorectal carcinoma severity ISO RGD:1320478 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:colon: PMID:23215825|REF_RGD_ID:9586444 11696741 BRD7 bromodomain containing 7 gene DOID:0111122 nephronophthisis 14 ISO RGD:1320478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 11696741 BRD7 bromodomain containing 7 gene DOID:2152 ovary epithelial cancer severity ISO RGD:1320478 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary PMID:24198243|REF_RGD_ID:9586445 11696741 BRD7 bromodomain containing 7 gene DOID:3068 glioblastoma ISO RGD:1320478 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:24404152|REF_RGD_ID:9586441 11696741 BRD7 bromodomain containing 7 gene DOID:3069 malignant astrocytoma severity ISO RGD:1320478 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:24404152|REF_RGD_ID:9586441 11696741 BRD7 bromodomain containing 7 gene DOID:3070 high grade glioma ISO RGD:1320478 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:24404152|REF_RGD_ID:9586441 11696741 BRD7 bromodomain containing 7 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1320478 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:22008115|REF_RGD_ID:9586442 11696741 BRD7 bromodomain containing 7 gene DOID:630 genetic disease ISO RGD:1320478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696741 BRD7 bromodomain containing 7 gene DOID:9000081 Lymphatic Metastasis severity ISO RGD:1320478 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:22008115|REF_RGD_ID:9586442 11696741 BRD7 bromodomain containing 7 gene DOID:9008863 Malignant Granular Cell Tumor ISO RGD:1320478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: malignant granular cell tumor 11696741 BRD7 bromodomain containing 7 gene DOID:9119 acute myeloid leukemia ISO RGD:1320478 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow: PMID:18772500|REF_RGD_ID:9586443 11696741 BRD7 bromodomain containing 7 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1320478 D RGD:9068941 20200609 RGD DNA:haplotype:cds:737A>G,495C>T(human) PMID:18772500|REF_RGD_ID:9586443 11696761 ARHGEF19 Rho guanine nucleotide exchange factor 19 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1312400 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11696761 ARHGEF19 Rho guanine nucleotide exchange factor 19 gene DOID:0110229 cataract 6 multiple types ISO RGD:1312400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 6 multiple types PMID:19649315|PMID:22167091|PMID:25148791|PMID:28492532 11696761 ARHGEF19 Rho guanine nucleotide exchange factor 19 gene DOID:630 genetic disease ISO RGD:1312400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696789 UAP1 UDP-N-acetylglucosamine pyrophosphorylase 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1319461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11696789 UAP1 UDP-N-acetylglucosamine pyrophosphorylase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1319461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11696789 UAP1 UDP-N-acetylglucosamine pyrophosphorylase 1 gene DOID:630 genetic disease ISO RGD:1319461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696789 UAP1 UDP-N-acetylglucosamine pyrophosphorylase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11696814 CPQ carboxypeptidase Q gene DOID:4450 renal cell carcinoma ISO RGD:736012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 11696814 CPQ carboxypeptidase Q gene DOID:630 genetic disease ISO RGD:736012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696814 CPQ carboxypeptidase Q gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11696826 EXOC3L1 exocyst complex component 3 like 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11696826 EXOC3L1 exocyst complex component 3 like 1 gene DOID:630 genetic disease ISO RGD:1605832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696854 KAT6B lysine acetyltransferase 6B gene DOID:0060263 porencephaly ISO RGD:1353532 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY PMID:25741868 11696854 KAT6B lysine acetyltransferase 6B gene DOID:0060290 blepharophimosis-intellectual disability syndrome, SBBYS type ISO RGD:1353532 D RGD:7240710 20180130 OMIM 11696854 KAT6B lysine acetyltransferase 6B gene DOID:0060290 blepharophimosis-intellectual disability syndrome, SBBYS type ISO RGD:1353532 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type PMID:18798845|PMID:21344633|PMID:22077973|PMID:22265014|PMID:22715153|PMID:23236640|PMID:23436491|PMID:25326637|PMID:25424711|PMID:25741868|PMID:25741872|PMID:26334766|PMID:26938784|PMID:27696664|PMID:28492532|PMID:28758091|PMID:30353918|PMID:32424177|PMID:8055130 11696854 KAT6B lysine acetyltransferase 6B gene DOID:0080204 renal hypoplasia ISO RGD:1353532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal hypoplasia PMID:25741868 11696854 KAT6B lysine acetyltransferase 6B gene DOID:0080205 CAKUT ISO RGD:1353532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:30143558 11696854 KAT6B lysine acetyltransferase 6B gene DOID:0090125 brain small vessel disease 1 ISO RGD:1353532 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: GOULD SYNDROME 1 PMID:25741868 11696854 KAT6B lysine acetyltransferase 6B gene DOID:0111547 retinal arterial tortuosity ISO RGD:1353532 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinal arterial tortuosity PMID:25741868 11696854 KAT6B lysine acetyltransferase 6B gene DOID:10348 blepharophimosis ISO RGD:1353532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis PMID:25741868 11696854 KAT6B lysine acetyltransferase 6B gene DOID:1059 intellectual disability ISO RGD:1353532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23236640|PMID:25424711|PMID:25741868|PMID:26334766|PMID:28492532 11696854 KAT6B lysine acetyltransferase 6B gene DOID:10892 hypospadias ISO RGD:1353532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypospadias PMID:25741868 11696854 KAT6B lysine acetyltransferase 6B gene DOID:11383 cryptorchidism ISO RGD:1353532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryptorchidism PMID:25741868 11696854 KAT6B lysine acetyltransferase 6B gene DOID:127 leiomyoma ISO RGD:1353532 D RGD:9068941 20200609 RGD DNA:translocation:intron:IVS3 (human) PMID:15313893|REF_RGD_ID:9590338 11696854 KAT6B lysine acetyltransferase 6B gene DOID:12712 nephronophthisis ISO RGD:1353532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532|PMID:30143558 11696854 KAT6B lysine acetyltransferase 6B gene DOID:14780 KBG syndrome ISO RGD:1353532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:25741868 11696854 KAT6B lysine acetyltransferase 6B gene DOID:1612 breast cancer ISO RGD:1353532 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.D1516Y, p.R1577C (human) PMID:23800003|REF_RGD_ID:9590339 11696854 KAT6B lysine acetyltransferase 6B gene DOID:1826 epilepsy ISO RGD:1353532 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 11696854 KAT6B lysine acetyltransferase 6B gene DOID:2340 craniosynostosis ISO RGD:1353532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 11696854 KAT6B lysine acetyltransferase 6B gene DOID:3070 high grade glioma ISO RGD:1353532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11696854 KAT6B lysine acetyltransferase 6B gene DOID:3312 bipolar disorder ISO RGD:1353532 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:24444492|REF_RGD_ID:9588521 11696854 KAT6B lysine acetyltransferase 6B gene DOID:3490 Noonan syndrome ISO RGD:1617572 D RGD:9068941 20200609 RGD PMID:21804188|REF_RGD_ID:9590337 11696854 KAT6B lysine acetyltransferase 6B gene DOID:3490 Noonan syndrome ISO RGD:1617572 D RGD:9068941 20220825 MouseDO 11696854 KAT6B lysine acetyltransferase 6B gene DOID:630 genetic disease ISO RGD:1353532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22265014|PMID:23436491|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29226580|PMID:32424177 11696854 KAT6B lysine acetyltransferase 6B gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1353532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11696854 KAT6B lysine acetyltransferase 6B gene DOID:9002417 Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant ISO RGD:1353532 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microangiopathy and leukoencephalopathy, pontine, autosomal dominant PMID:25741868 11696854 KAT6B lysine acetyltransferase 6B gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1353532 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intracerebral hemorrhage PMID:25741868 11696854 KAT6B lysine acetyltransferase 6B gene DOID:9003529 Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps ISO RGD:1353532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps PMID:25741868 11696854 KAT6B lysine acetyltransferase 6B gene DOID:9003591 Telecanthus ISO RGD:1353532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Telecanthus PMID:25741868 11696854 KAT6B lysine acetyltransferase 6B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11696854 KAT6B lysine acetyltransferase 6B gene DOID:9005367 Arachnodactyly ISO RGD:1353532 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arachnodactyly 11696854 KAT6B lysine acetyltransferase 6B gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1353532 D RGD:7240710 20180130 OMIM 11696854 KAT6B lysine acetyltransferase 6B gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1353532 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ABSENT PATELLAE, SCROTAL HYPOPLASIA, RENAL ANOMALIES, FACIAL DYSMORPHISM, AND MENTAL RETARDATION | ClinVar Annotator: match by term: Autosomal dominant KAT6B-related disorders | ClinVar Annotator: match by term: Genitopatellar syndrome | ClinVar Annotator: match by term: KAT6B-Related Spectrum Disorders PMID:12210329|PMID:12210330|PMID:16761293|PMID:17576681|PMID:21344633|PMID:22077973|PMID:22265014|PMID:22265017|PMID:22715153|PMID:23236640|PMID:23436491|PMID:24033266|PMID:25326635|PMID:25424711|PMID:25473036|PMID:25741868|PMID:25741872|PMID:25937001|PMID:26938784|PMID:27880066|PMID:28166811|PMID:28492532|PMID:28696035|PMID:28758091|PMID:29226580|PMID:30143558|PMID:30919572|PMID:32170002|PMID:32424177|PMID:33004838|PMID:9536098 11696854 KAT6B lysine acetyltransferase 6B gene DOID:9006249 RADIO-TARTAGLIA SYNDROME ISO RGD:1353532 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Radio-Tartaglia syndrome PMID:25741868|PMID:28492532 11696854 KAT6B lysine acetyltransferase 6B gene DOID:9008086 Developmental Disabilities ISO RGD:1353532 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:36937954 11696854 KAT6B lysine acetyltransferase 6B gene DOID:9620 vesicoureteral reflux ISO RGD:1353532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vesico-Ureteral Reflux PMID:25741868 11696896 RSPO3 R-spondin 3 gene DOID:630 genetic disease ISO RGD:1345376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696896 RSPO3 R-spondin 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1345376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11696896 RSPO3 R-spondin 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1345376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17468756 11696904 ESAM endothelial cell adhesion molecule gene DOID:0110877 holoprosencephaly 11 ISO RGD:1348841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11696904 ESAM endothelial cell adhesion molecule gene DOID:0111723 Jacobsen Syndrome ISO RGD:1348841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11696904 ESAM endothelial cell adhesion molecule gene DOID:5419 schizophrenia ISO RGD:1348841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11696904 ESAM endothelial cell adhesion molecule gene DOID:630 genetic disease ISO RGD:1348841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696904 ESAM endothelial cell adhesion molecule gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1348841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11696904 ESAM endothelial cell adhesion molecule gene DOID:9007661 Dwarfism ISO RGD:1348841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11696926 PAQR4 progestin and adipoQ receptor family member 4 gene DOID:0080600 COVID-19 ISO RGD:1319922 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11696926 PAQR4 progestin and adipoQ receptor family member 4 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1319922 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11696926 PAQR4 progestin and adipoQ receptor family member 4 gene DOID:1826 epilepsy ISO RGD:1319922 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11696926 PAQR4 progestin and adipoQ receptor family member 4 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319922 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11696926 PAQR4 progestin and adipoQ receptor family member 4 gene DOID:630 genetic disease ISO RGD:1319922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696926 PAQR4 progestin and adipoQ receptor family member 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 11696926 PAQR4 progestin and adipoQ receptor family member 4 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1319922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 11696933 TOE1 target of EGR1, exonuclease gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1319240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11696933 TOE1 target of EGR1, exonuclease gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1319240 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28092684 11696933 TOE1 target of EGR1, exonuclease gene DOID:0060276 pontocerebellar hypoplasia type 7 ISO RGD:1319240 D RGD:7240710 20190315 OMIM 11696933 TOE1 target of EGR1, exonuclease gene DOID:0060276 pontocerebellar hypoplasia type 7 ISO RGD:1319240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 7 PMID:18271935|PMID:21594990|PMID:25741868|PMID:28092684|PMID:28492532 11696933 TOE1 target of EGR1, exonuclease gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1319240 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:12056405|PMID:14618256|PMID:16199547|PMID:16408224|PMID:17576681|PMID:18271935|PMID:18534194|PMID:19725997|PMID:20663686|PMID:22473953|PMID:25186627|PMID:25741868|PMID:26467025|PMID:28492532|PMID:36988593|PMID:9536098 11696933 TOE1 target of EGR1, exonuclease gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11696933 TOE1 target of EGR1, exonuclease gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1319240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11696933 TOE1 target of EGR1, exonuclease gene DOID:10534 stomach cancer ISO RGD:1319240 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:14618256|PMID:22473953|PMID:25741868|PMID:28492532|PMID:36988593 11696933 TOE1 target of EGR1, exonuclease gene DOID:1520 colon carcinoma ISO RGD:1319240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:18271935|PMID:25741868|PMID:28492532 11696933 TOE1 target of EGR1, exonuclease gene DOID:630 genetic disease ISO RGD:1319240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28092684|PMID:28492532|PMID:9536098 11696933 TOE1 target of EGR1, exonuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12056405|PMID:14618256|PMID:16408224|PMID:17576681|PMID:18271935|PMID:18534194|PMID:19725997|PMID:20663686|PMID:20725929|PMID:22473953|PMID:25186627|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 11696933 TOE1 target of EGR1, exonuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319240 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12056405|PMID:14618256|PMID:16199547|PMID:16408224|PMID:17576681|PMID:18271935|PMID:18534194|PMID:19725997|PMID:20663686|PMID:22473953|PMID:25186627|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28644590|PMID:36988593|PMID:9536098 11696956 SLC22A1 solute carrier family 22 member 1 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:732626 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 11696956 SLC22A1 solute carrier family 22 member 1 gene DOID:10487 Hirschsprung's disease ISO RGD:732626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 11696956 SLC22A1 solute carrier family 22 member 1 gene DOID:13619 extrahepatic cholestasis ISO RGD:3224 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:20814153|REF_RGD_ID:7243879 11696956 SLC22A1 solute carrier family 22 member 1 gene DOID:1852 intrahepatic cholestasis ISO RGD:3224 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:19002567|REF_RGD_ID:7243885 11696956 SLC22A1 solute carrier family 22 member 1 gene DOID:1920 hyperuricemia treatment ISO RGD:737278 D RGD:9068941 20200609 RGD PMID:21154198|PMID:21909718|REF_RGD_ID:7243180|REF_RGD_ID:7244192 11696956 SLC22A1 solute carrier family 22 member 1 gene DOID:2841 asthma ISO RGD:3224 D RGD:9068941 20200609 RGD PMID:17328924|REF_RGD_ID:5686690 11696956 SLC22A1 solute carrier family 22 member 1 gene DOID:3021 acute kidney failure treatment ISO RGD:3224 D RGD:9068941 20200609 RGD PMID:22414646|REF_RGD_ID:7243179 11696956 SLC22A1 solute carrier family 22 member 1 gene DOID:630 genetic disease ISO RGD:732626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11696956 SLC22A1 solute carrier family 22 member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11696956 SLC22A1 solute carrier family 22 member 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:737278 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:23228442|REF_RGD_ID:7243178 11696956 SLC22A1 solute carrier family 22 member 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:732626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 11696956 SLC22A1 solute carrier family 22 member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3224 D RGD:9068941 20200609 RGD PMID:14718608|REF_RGD_ID:2317435 11696956 SLC22A1 solute carrier family 22 member 1 gene DOID:9005930 Endotoxemia treatment ISO RGD:3224 D RGD:9068941 20200609 RGD PMID:18313662|REF_RGD_ID:7243881 11696956 SLC22A1 solute carrier family 22 member 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:3224 D RGD:9068941 20200609 RGD PMID:21835768|REF_RGD_ID:7243877 11696956 SLC22A1 solute carrier family 22 member 1 gene DOID:9970 obesity ISO RGD:732626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20956498 11696973 NOL10 nucleolar protein 10 gene DOID:11372 megacolon ISO RGD:1602460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11696973 NOL10 nucleolar protein 10 gene DOID:630 genetic disease ISO RGD:1602460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697004 SERPING1 serpin family G member 1 gene DOID:0080162 lupus nephritis ISO RGD:1344082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4014294 11697004 SERPING1 serpin family G member 1 gene DOID:0080600 COVID-19 severity ISO RGD:1344082 D RGD:9068941 20200813 RGD DNA:SNP: : PMID:32747830|REF_RGD_ID:38500238 11697004 SERPING1 serpin family G member 1 gene DOID:0080939 hereditary angioedema type I ISO RGD:1344082 D RGD:7240710 20180418 OMIM 11697004 SERPING1 serpin family G member 1 gene DOID:0080939 hereditary angioedema type I ISO RGD:1344082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary C1 esterase inhibitor deficiency - dysfunctional factor | ClinVar Annotator: match by term: Hereditary angioedema type 1 | ClinVar Annotator: match by term: Hereditary angioedema with C1Inh deficiency PMID:12402344|PMID:1339401|PMID:1363816|PMID:1451784|PMID:16813612|PMID:1684567|PMID:17137866|PMID:17576681|PMID:18586324|PMID:18758157|PMID:1885769|PMID:20804470|PMID:20864152|PMID:21832835|PMID:22129507|PMID:2296585|PMID:22994404|PMID:23437219|PMID:2365061|PMID:24033266|PMID:25258140|PMID:2563376|PMID:25741868|PMID:26812872|PMID:2723063|PMID:28194776|PMID:28359783|PMID:28492532|PMID:2890659|PMID:29343682|PMID:29753808|PMID:30398465|PMID:30508583|PMID:30847342|PMID:3178731|PMID:31959500|PMID:31982983|PMID:32065705|PMID:33034800|PMID:3587308|PMID:8396558|PMID:8755917|PMID:9536098 11697004 SERPING1 serpin family G member 1 gene DOID:0080941 acquired angioedema ISO RGD:1344082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:23406939|PMID:9734886 11697004 SERPING1 serpin family G member 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:735225 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:10360224|REF_RGD_ID:8661651 11697004 SERPING1 serpin family G member 1 gene DOID:1059 intellectual disability ISO RGD:1344082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11697004 SERPING1 serpin family G member 1 gene DOID:14115 toxic shock syndrome treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:8172580|REF_RGD_ID:8661646 11697004 SERPING1 serpin family G member 1 gene DOID:14735 hereditary angioedema ISO RGD:1344082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary angioneurotic edema 11697004 SERPING1 serpin family G member 1 gene DOID:14735 hereditary angioedema treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:22800873|REF_RGD_ID:8661265 11697004 SERPING1 serpin family G member 1 gene DOID:1558 angioedema ISO RGD:1344082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angioedema 11697004 SERPING1 serpin family G member 1 gene DOID:1558 angioedema susceptibility ISO RGD:1344082 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:12402344|REF_RGD_ID:1600545 11697004 SERPING1 serpin family G member 1 gene DOID:3068 glioblastoma treatment ISO RGD:735225 D RGD:9068941 20200609 RGD PMID:28880870|REF_RGD_ID:13525003 11697004 SERPING1 serpin family G member 1 gene DOID:3526 cerebral infarction treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD associated with Venous Thrombosis PMID:10446335|REF_RGD_ID:8661653 11697004 SERPING1 serpin family G member 1 gene DOID:4448 macular degeneration ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:21852020|REF_RGD_ID:8661263 11697004 SERPING1 serpin family G member 1 gene DOID:4448 macular degeneration ISO RGD:1344082 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:intron:c.1030-865C>T (rs2511989) (human) PMID:20576771|REF_RGD_ID:8661638 11697004 SERPING1 serpin family G member 1 gene DOID:4448 macular degeneration no_association ISO RGD:1344082 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:intron:c.1030-865C>T (rs2511989) (human) PMID:21526158|REF_RGD_ID:8661639 11697004 SERPING1 serpin family G member 1 gene DOID:4448 macular degeneration no_association ISO RGD:1344082 D RGD:9068941 20200609 RGD DNA:SNP:intron:c.1029+312T>C (rs11603020) (human) PMID:20606025|REF_RGD_ID:8661640 11697004 SERPING1 serpin family G member 1 gene DOID:4448 macular degeneration no_association ISO RGD:1344082 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:19169411|REF_RGD_ID:8661264 11697004 SERPING1 serpin family G member 1 gene DOID:4448 macular degeneration susceptibility ISO RGD:1344082 D RGD:9068941 20200609 RGD DNA:SNPs:introns:c.52-130C>T, c.1030-865C>T (rs1005510, rs2511989) (human) PMID:20606025|REF_RGD_ID:8661640 11697004 SERPING1 serpin family G member 1 gene DOID:4989 pancreatitis treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:9176084|REF_RGD_ID:8661649 11697004 SERPING1 serpin family G member 1 gene DOID:5082 liver cirrhosis ISO RGD:1344082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 11697004 SERPING1 serpin family G member 1 gene DOID:630 genetic disease ISO RGD:1344082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12402344|PMID:1451784|PMID:14635117|PMID:15971231|PMID:16470590|PMID:17576681|PMID:18586324|PMID:18758157|PMID:21864911|PMID:22994404|PMID:23123409|PMID:23437219|PMID:2365061|PMID:24033266|PMID:24456027|PMID:25258140|PMID:2563376|PMID:25741868|PMID:26535898|PMID:28492532|PMID:29753808|PMID:3178731|PMID:3756141|PMID:8125476|PMID:9536098 11697004 SERPING1 serpin family G member 1 gene DOID:898 autosomal dominant polycystic kidney disease disease_progression ISO RGD:1344082 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:24494798|REF_RGD_ID:8661641 11697004 SERPING1 serpin family G member 1 gene DOID:9000113 Pneumococcal Meningitis treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:17538891|REF_RGD_ID:8661645 11697004 SERPING1 serpin family G member 1 gene DOID:9000728 Traumatic Shock treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:9377162|REF_RGD_ID:8661648 11697004 SERPING1 serpin family G member 1 gene DOID:9001488 Human Influenza ISO RGD:1344082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11697004 SERPING1 serpin family G member 1 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:16367929|REF_RGD_ID:1580273 11697004 SERPING1 serpin family G member 1 gene DOID:9002625 Complement Component 4, Partial Deficiency Of ISO RGD:1344082 D RGD:7240710 20180130 OMIM 11697004 SERPING1 serpin family G member 1 gene DOID:9002625 Complement Component 4, Partial Deficiency Of ISO RGD:1344082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor PMID:7883978 11697004 SERPING1 serpin family G member 1 gene DOID:9003104 Intracranial Hemorrhages treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD associated with Stroke PMID:21779364|REF_RGD_ID:6484131 11697004 SERPING1 serpin family G member 1 gene DOID:9004009 Reperfusion Injury treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:23991040|REF_RGD_ID:8661644 11697004 SERPING1 serpin family G member 1 gene DOID:9004347 Skeletal Muscle Reperfusion Injury treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:24585935|PMID:29395422|REF_RGD_ID:13525001|REF_RGD_ID:13542089 11697004 SERPING1 serpin family G member 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:11685347|REF_RGD_ID:8661650 11697004 SERPING1 serpin family G member 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1344082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 11697004 SERPING1 serpin family G member 1 gene DOID:9005372 Inflammation treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD associated with Myocardial Infarction PMID:27153875|REF_RGD_ID:13525005 11697004 SERPING1 serpin family G member 1 gene DOID:9005930 Endotoxemia treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:18652771|REF_RGD_ID:8661643 11697004 SERPING1 serpin family G member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11697004 SERPING1 serpin family G member 1 gene DOID:9007730 Burns treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:22447201|REF_RGD_ID:6903314 11697004 SERPING1 serpin family G member 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:16942749|REF_RGD_ID:8661647 11697004 SERPING1 serpin family G member 1 gene DOID:9408 acute myocardial infarction ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:26476955|REF_RGD_ID:11552746 11697004 SERPING1 serpin family G member 1 gene DOID:9408 acute myocardial infarction ISO RGD:735225 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:26476955|REF_RGD_ID:11552746 11697055 LINC02903 long intergenic non-protein coding RNA 2903 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11697077 ICAM5 intercellular adhesion molecule 5 gene DOID:0080600 COVID-19 ISO RGD:1312830 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11697077 ICAM5 intercellular adhesion molecule 5 gene DOID:0080600 COVID-19 ISO RGD:1312830 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 11697077 ICAM5 intercellular adhesion molecule 5 gene DOID:630 genetic disease ISO RGD:1312830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697077 ICAM5 intercellular adhesion molecule 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1312830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 11697077 ICAM5 intercellular adhesion molecule 5 gene DOID:9008939 Breast Neoplasms ISO RGD:1312830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 11697092 GJA3 gap junction protein alpha 3 gene DOID:0110231 cataract 1 multiple types ISO RGD:1349664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Zonular Pulverulent Cataract 11697092 GJA3 gap junction protein alpha 3 gene DOID:0110253 cataract 14 multiple types ISO RGD:1349664 D RGD:7240710 20180130 OMIM 11697092 GJA3 gap junction protein alpha 3 gene DOID:0110253 cataract 14 multiple types ISO RGD:1349664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types | ClinVar Annotator: match by term: Zonular pulverulent cataract 3 PMID:10205266|PMID:10746562|PMID:15208569|PMID:15286166|PMID:15448617|PMID:16204255|PMID:16885921|PMID:19182255|PMID:20431721|PMID:21681855|PMID:21897748|PMID:22312188|PMID:22550389|PMID:22843197|PMID:22876138|PMID:23734083|PMID:25148791|PMID:25741868|PMID:26694549|PMID:27275416|PMID:27609163|PMID:28492532|PMID:28877251|PMID:29321356|PMID:29934635 11697092 GJA3 gap junction protein alpha 3 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1349664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:28492532 11697092 GJA3 gap junction protein alpha 3 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1349664 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:28492532 11697092 GJA3 gap junction protein alpha 3 gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:1349664 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:28492532 11697092 GJA3 gap junction protein alpha 3 gene DOID:14693 Clouston syndrome ISO RGD:1349664 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia PMID:28492532 11697092 GJA3 gap junction protein alpha 3 gene DOID:2121 ectodermal dysplasia ISO RGD:1349664 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 11697092 GJA3 gap junction protein alpha 3 gene DOID:630 genetic disease ISO RGD:1349664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11697092 GJA3 gap junction protein alpha 3 gene DOID:83 cataract ISO RGD:1349664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:15208569|PMID:16885921|PMID:19182255|PMID:22843197|PMID:25741868|PMID:26694549|PMID:27609163|PMID:28492532|PMID:29934635 11697092 GJA3 gap junction protein alpha 3 gene DOID:9005826 Congenital Cataracts, Facial Dysmorphism, and Neuropathy ISO RGD:1349664 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital Cataracts, Facial Dysmorphism, and Neuropathy PMID:25741868 11697092 GJA3 gap junction protein alpha 3 gene DOID:9008035 Cataract, Autosomal Dominant Nuclear ISO RGD:1349664 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.N188T (human) PMID:15448617|REF_RGD_ID:1578473 11697113 LOC100973224 olfactory receptor 5AR1 gene DOID:1059 intellectual disability ISO RGD:1346704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11697113 LOC100973224 olfactory receptor 5AR1 gene DOID:630 genetic disease ISO RGD:1346704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697114 LCE1C late cornified envelope 1C gene DOID:0111940 immunodeficiency 42 ISO RGD:1344293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11697114 LCE1C late cornified envelope 1C gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11697114 LCE1C late cornified envelope 1C gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11697114 LCE1C late cornified envelope 1C gene DOID:1540 parathyroid carcinoma ISO RGD:1344293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11697114 LCE1C late cornified envelope 1C gene DOID:5812 MHC class II deficiency ISO RGD:1344293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11697114 LCE1C late cornified envelope 1C gene DOID:630 genetic disease ISO RGD:1344293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697114 LCE1C late cornified envelope 1C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11697123 RABL3 RAB, member of RAS oncogene family like 3 gene DOID:1793 pancreatic cancer ISO RGD:1315050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 5 PMID:31406347 11697123 RABL3 RAB, member of RAS oncogene family like 3 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1315050 D RGD:7240710 20191211 OMIM 11697123 RABL3 RAB, member of RAS oncogene family like 3 gene DOID:630 genetic disease ISO RGD:1315050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697123 RABL3 RAB, member of RAS oncogene family like 3 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1315050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 11697123 RABL3 RAB, member of RAS oncogene family like 3 gene DOID:9270 alkaptonuria ISO RGD:1315050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11697135 GPT2 glutamic--pyruvic transaminase 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1313502 D RGD:9068941 20200609 RGD protein:increased activity:plasma PMID:22922605|REF_RGD_ID:14975251 11697135 GPT2 glutamic--pyruvic transaminase 2 gene DOID:0080546 non-alcoholic fatty liver ISO RGD:1313503 D RGD:9068941 20200609 RGD protein:increased expression:liver,serum PMID:18710424|REF_RGD_ID:14975250 11697135 GPT2 glutamic--pyruvic transaminase 2 gene DOID:0111041 glycogen storage disease IXb ISO RGD:1313502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 11697135 GPT2 glutamic--pyruvic transaminase 2 gene DOID:1059 intellectual disability ISO RGD:1313502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild PMID:25741868|PMID:28492532 11697135 GPT2 glutamic--pyruvic transaminase 2 gene DOID:3571 liver cancer treatment ISO RGD:1313502 D RGD:9068941 20200609 RGD PMID:22922605|REF_RGD_ID:14975251 11697135 GPT2 glutamic--pyruvic transaminase 2 gene DOID:630 genetic disease ISO RGD:1313502 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24901346|PMID:25741868|PMID:25758935|PMID:27601654|PMID:28374019|PMID:29882329|PMID:32214227 11697135 GPT2 glutamic--pyruvic transaminase 2 gene DOID:9002164 Mental Retardation, Autosomal Recessive 49 ISO RGD:1313502 D RGD:7240710 20180130 OMIM 11697135 GPT2 glutamic--pyruvic transaminase 2 gene DOID:9002164 Mental Retardation, Autosomal Recessive 49 ISO RGD:1313502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GPT2-related neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and spastic paraplegia PMID:25741868|PMID:25758935|PMID:27601654|PMID:28374019|PMID:29226631|PMID:29882329|PMID:31471722|PMID:32214227 11697135 GPT2 glutamic--pyruvic transaminase 2 gene DOID:9002164 Mental Retardation, Autosomal Recessive 49 ISO RGD:1313502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GPT2-related neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and spastic paraplegia PMID:24901346|PMID:25741868|PMID:25758935|PMID:27601654|PMID:28374019|PMID:29226631|PMID:29882329|PMID:31471722|PMID:32214227 11697135 GPT2 glutamic--pyruvic transaminase 2 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1313502 D RGD:9068941 20200609 RGD protein:increased activity:plasma PMID:22922605|REF_RGD_ID:14975251 11697135 GPT2 glutamic--pyruvic transaminase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:30057029 11697135 GPT2 glutamic--pyruvic transaminase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1305462 D RGD:9068941 20200609 RGD protein:increased expression, activity:serum: PMID:19085960|REF_RGD_ID:14975249 11697135 GPT2 glutamic--pyruvic transaminase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1313503 D RGD:9068941 20200609 RGD protein:increased expression, activity:serum: PMID:19085960|REF_RGD_ID:14975249 11697135 GPT2 glutamic--pyruvic transaminase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1305462 D RGD:9068941 20200609 RGD protein:increased expression, activity:liver: PMID:25865565|REF_RGD_ID:11342811 11697135 GPT2 glutamic--pyruvic transaminase 2 gene DOID:9452 fatty liver disease ISO RGD:1313503 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:15122758|REF_RGD_ID:14975241 11697135 GPT2 glutamic--pyruvic transaminase 2 gene DOID:9970 obesity ISO RGD:1313503 D RGD:9068941 20200609 RGD protein:increased expression, activity:liver: PMID:25865565|REF_RGD_ID:11342811 11697151 THOC1 THO complex subunit 1 gene DOID:12849 autistic disorder ISO RGD:1318555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11697151 THOC1 THO complex subunit 1 gene DOID:630 genetic disease ISO RGD:1318555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697151 THOC1 THO complex subunit 1 gene DOID:9002299 Autosomal Dominant Nonsyndromic Deafness 86 ISO RGD:1318555 D RGD:7240710 20230505 OMIM 11697151 THOC1 THO complex subunit 1 gene DOID:9002299 Autosomal Dominant Nonsyndromic Deafness 86 ISO RGD:1318555 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 86 PMID:32776944 11697151 THOC1 THO complex subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11697176 CXCL5 C-X-C motif chemokine ligand 5 gene DOID:0050127 sinusitis ISO RGD:1348297 D RGD:9068941 20200609 RGD associated with Rhinitis;mRNA:increased expression:paranasal sinus PMID:19153309|REF_RGD_ID:5135257 11697176 CXCL5 C-X-C motif chemokine ligand 5 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1348297 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-156G>C (human) PMID:20137269|REF_RGD_ID:5135241 11697176 CXCL5 C-X-C motif chemokine ligand 5 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1348297 D RGD:9068941 20200609 RGD protein:increased expression:lung, macrophage, type II pneumocyte PMID:11751193|REF_RGD_ID:5135250 11697176 CXCL5 C-X-C motif chemokine ligand 5 gene DOID:10459 common cold ISO RGD:1348297 D RGD:9068941 20200609 RGD associated with Asthma PMID:12751040|REF_RGD_ID:5135264 11697176 CXCL5 C-X-C motif chemokine ligand 5 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1348297 D RGD:9068941 20200609 RGD PMID:8810593|REF_RGD_ID:4143190 11697176 CXCL5 C-X-C motif chemokine ligand 5 gene DOID:1205 allergic disease ISO RGD:1348297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11697176 CXCL5 C-X-C motif chemokine ligand 5 gene DOID:13406 pulmonary sarcoidosis disease_progression ISO RGD:1348297 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:17052298|REF_RGD_ID:5135244 11697176 CXCL5 C-X-C motif chemokine ligand 5 gene DOID:1580 diffuse scleroderma ISO RGD:1348297 D RGD:9068941 20200609 RGD PMID:18432520|REF_RGD_ID:5135258 11697176 CXCL5 C-X-C motif chemokine ligand 5 gene DOID:2797 idiopathic interstitial pneumonia ISO RGD:1348297 D RGD:9068941 20200609 RGD associated with Scleroderma, Diffuse PMID:18432520|REF_RGD_ID:5135258 11697176 CXCL5 C-X-C motif chemokine ligand 5 gene DOID:2797 idiopathic interstitial pneumonia ISO RGD:1348297 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16085216|REF_RGD_ID:5135260 11697176 CXCL5 C-X-C motif chemokine ligand 5 gene DOID:2841 asthma ISO RGD:1348297 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchus epithelium PMID:17234659|REF_RGD_ID:5135243 11697176 CXCL5 C-X-C motif chemokine ligand 5 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1348297 D RGD:9068941 20200609 RGD PMID:12857718|REF_RGD_ID:5135248 11697176 CXCL5 C-X-C motif chemokine ligand 5 gene DOID:552 pneumonia ISO RGD:1348297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11697176 CXCL5 C-X-C motif chemokine ligand 5 gene DOID:552 pneumonia ISO RGD:1348297 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:18410262|REF_RGD_ID:5135259 11697176 CXCL5 C-X-C motif chemokine ligand 5 gene DOID:630 genetic disease ISO RGD:1348297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697176 CXCL5 C-X-C motif chemokine ligand 5 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1348297 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11697176 CXCL5 C-X-C motif chemokine ligand 5 gene DOID:9002801 Recurrence ISO RGD:1348297 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22607768 11697176 CXCL5 C-X-C motif chemokine ligand 5 gene DOID:9256 colorectal cancer ISO RGD:1348297 D RGD:9068941 20220721 RGD mRNA:increased expression:colon (human) PMID:33717244|REF_RGD_ID:152999433 11697176 CXCL5 C-X-C motif chemokine ligand 5 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1348297 D RGD:9068941 20200609 RGD PMID:18413816|REF_RGD_ID:5135268 11697176 CXCL5 C-X-C motif chemokine ligand 5 gene DOID:9279 hyperhomocysteinemia ISO RGD:1348297 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:11950713|REF_RGD_ID:5135249 11697184 WDR59 WD repeat domain 59 gene DOID:2565 macular corneal dystrophy ISO RGD:1605950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 11697184 WDR59 WD repeat domain 59 gene DOID:607 paraplegia ISO RGD:1605950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11697184 WDR59 WD repeat domain 59 gene DOID:630 genetic disease ISO RGD:1605950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697184 WDR59 WD repeat domain 59 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11697214 TNFSF12 TNF superfamily member 12 gene DOID:0060224 atrial fibrillation ISO RGD:1350160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 11697214 TNFSF12 TNF superfamily member 12 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1350160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11697214 TNFSF12 TNF superfamily member 12 gene DOID:0080600 COVID-19 ISO RGD:1350160 D RGD:9068941 20200618 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11697214 TNFSF12 TNF superfamily member 12 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1350160 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11697214 TNFSF12 TNF superfamily member 12 gene DOID:12177 common variable immunodeficiency ISO RGD:1350160 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:17576681|PMID:23493554|PMID:25741868|PMID:28492532|PMID:9536098 11697214 TNFSF12 TNF superfamily member 12 gene DOID:2729 dyskeratosis congenita ISO RGD:1350160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11697214 TNFSF12 TNF superfamily member 12 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1350160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11697214 TNFSF12 TNF superfamily member 12 gene DOID:552 pneumonia ISO RGD:1350160 D RGD:9068941 20200618 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11697214 TNFSF12 TNF superfamily member 12 gene DOID:630 genetic disease ISO RGD:1350160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11697214 TNFSF12 TNF superfamily member 12 gene DOID:9000998 Brain Injuries ISO RGD:1350160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 11697224 ASCL3 achaete-scute family bHLH transcription factor 3 gene DOID:630 genetic disease ISO RGD:1315779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697230 TPST2 tyrosylprotein sulfotransferase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1313297 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11697230 TPST2 tyrosylprotein sulfotransferase 2 gene DOID:0110271 cataract 23 ISO RGD:1313297 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 11697230 TPST2 tyrosylprotein sulfotransferase 2 gene DOID:630 genetic disease ISO RGD:1313297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697245 EXOC5 exocyst complex component 5 gene DOID:0070314 obstructive nephropathy ISO RGD:1622168 D RGD:9068941 20220825 MouseDO 11697245 EXOC5 exocyst complex component 5 gene DOID:630 genetic disease ISO RGD:731494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697269 SPIDR scaffold protein involved in DNA repair gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1603315 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 11697269 SPIDR scaffold protein involved in DNA repair gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 11697269 SPIDR scaffold protein involved in DNA repair gene DOID:630 genetic disease ISO RGD:1603315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697269 SPIDR scaffold protein involved in DNA repair gene DOID:9000760 Ovarian Dysgenesis 9 ISO RGD:1603315 D RGD:7240710 20211222 OMIM 11697269 SPIDR scaffold protein involved in DNA repair gene DOID:9000760 Ovarian Dysgenesis 9 ISO RGD:1603315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 9 PMID:27967308|PMID:34697795 11697310 GK2 glycerol kinase 2 gene DOID:630 genetic disease ISO RGD:1353777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697310 GK2 glycerol kinase 2 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1353777 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11697316 TMED5 transmembrane p24 trafficking protein 5 gene DOID:630 genetic disease ISO RGD:1349482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697327 VSIR V-set immunoregulatory receptor gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:1605963 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:25741868 11697327 VSIR V-set immunoregulatory receptor gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:1605963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome 11697327 VSIR V-set immunoregulatory receptor gene DOID:0110831 Usher syndrome type 1D ISO RGD:1605963 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID PMID:25741868 11697327 VSIR V-set immunoregulatory receptor gene DOID:0111330 combined saposin deficiency ISO RGD:1605963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency PMID:28492532 11697327 VSIR V-set immunoregulatory receptor gene DOID:0112008 pituitary adenoma 5 ISO RGD:1605963 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types PMID:25741868 11697327 VSIR V-set immunoregulatory receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11697338 CLCF1 cardiotrophin like cytokine factor 1 gene DOID:0060294 cold-induced sweating syndrome ISO RGD:1606817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11697338 CLCF1 cardiotrophin like cytokine factor 1 gene DOID:0080330 cold-induced sweating syndrome 2 ISO RGD:1606817 D RGD:7240710 20180130 OMIM 11697338 CLCF1 cardiotrophin like cytokine factor 1 gene DOID:0080330 cold-induced sweating syndrome 2 ISO RGD:1606817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cold-induced sweating syndrome 2 PMID:16782820|PMID:20400119|PMID:25741868 11697338 CLCF1 cardiotrophin like cytokine factor 1 gene DOID:0080600 COVID-19 ISO RGD:1606817 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11697338 CLCF1 cardiotrophin like cytokine factor 1 gene DOID:1059 intellectual disability ISO RGD:1606817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11697338 CLCF1 cardiotrophin like cytokine factor 1 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1606817 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 11697338 CLCF1 cardiotrophin like cytokine factor 1 gene DOID:630 genetic disease ISO RGD:1606817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11697338 CLCF1 cardiotrophin like cytokine factor 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1606817 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11697338 CLCF1 cardiotrophin like cytokine factor 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1606817 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11697344 PURB purine rich element binding protein B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11697344 PURB purine rich element binding protein B gene DOID:630 genetic disease ISO RGD:1353565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697349 AFF4 ALF transcription elongation factor 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1601873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11697349 AFF4 ALF transcription elongation factor 4 gene DOID:0080006 bone development disease ISO RGD:1601873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25730767 11697349 AFF4 ALF transcription elongation factor 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601873 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11697349 AFF4 ALF transcription elongation factor 4 gene DOID:1561 cognitive disorder ISO RGD:1601873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25730767 11697349 AFF4 ALF transcription elongation factor 4 gene DOID:1682 congenital heart disease ISO RGD:1601873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25730767 11697349 AFF4 ALF transcription elongation factor 4 gene DOID:630 genetic disease ISO RGD:1601873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25730767|PMID:25741868|PMID:28492532|PMID:31058441 11697349 AFF4 ALF transcription elongation factor 4 gene DOID:850 lung disease ISO RGD:1601873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25730767 11697349 AFF4 ALF transcription elongation factor 4 gene DOID:8923 skin melanoma disease_progression ISO RGD:1601873 D RGD:9068941 20221028 RGD PMID:33417923|REF_RGD_ID:155631266 11697349 AFF4 ALF transcription elongation factor 4 gene DOID:9001487 Facies ISO RGD:1601873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25730767 11697349 AFF4 ALF transcription elongation factor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11697349 AFF4 ALF transcription elongation factor 4 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1311694 D RGD:9068941 20221028 RGD PMID:31466050|REF_RGD_ID:155631268 11697349 AFF4 ALF transcription elongation factor 4 gene DOID:9006257 Growth Disorders ISO RGD:1601873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25730767 11697349 AFF4 ALF transcription elongation factor 4 gene DOID:9006799 CHOPS Syndrome ISO RGD:1601873 D RGD:7240710 20180130 OMIM 11697349 AFF4 ALF transcription elongation factor 4 gene DOID:9006799 CHOPS Syndrome ISO RGD:1601873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome PMID:17576681|PMID:25730767|PMID:25741868|PMID:28492532|PMID:31058441|PMID:34782754|PMID:9536098 11697349 AFF4 ALF transcription elongation factor 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601873 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11697349 AFF4 ALF transcription elongation factor 4 gene DOID:9007653 Multiple Abnormalities ISO RGD:1601873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25730767 11697349 AFF4 ALF transcription elongation factor 4 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1601873 D RGD:9068941 20221028 RGD PMID:35223479|REF_RGD_ID:155631267 11697349 AFF4 ALF transcription elongation factor 4 gene DOID:9970 obesity ISO RGD:1601873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25730767 11697384 FNDC1 fibronectin type III domain containing 1 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1321663 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 11697384 FNDC1 fibronectin type III domain containing 1 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1321663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 11697384 FNDC1 fibronectin type III domain containing 1 gene DOID:630 genetic disease ISO RGD:1321663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697410 MTARC1 mitochondrial amidoxime reducing component 1 gene DOID:0050439 Usher syndrome ISO RGD:1604320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 11697410 MTARC1 mitochondrial amidoxime reducing component 1 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1604320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 11697410 MTARC1 mitochondrial amidoxime reducing component 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1604320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11697410 MTARC1 mitochondrial amidoxime reducing component 1 gene DOID:630 genetic disease ISO RGD:1604320 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697410 MTARC1 mitochondrial amidoxime reducing component 1 gene DOID:670 amphetamine abuse ISO RGD:1604320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11697410 MTARC1 mitochondrial amidoxime reducing component 1 gene DOID:9006949 Martsolf Syndrome ISO RGD:1604320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 11697410 MTARC1 mitochondrial amidoxime reducing component 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11697424 TMEM92 transmembrane protein 92 gene DOID:630 genetic disease ISO RGD:1603555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697424 TMEM92 transmembrane protein 92 gene DOID:9008086 Developmental Disabilities ISO RGD:1603555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 11697433 ABCE1 ATP binding cassette subfamily E member 1 gene DOID:10283 prostate cancer ISO RGD:1313249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11697433 ABCE1 ATP binding cassette subfamily E member 1 gene DOID:3459 breast carcinoma ISO RGD:1313249 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:23556449|REF_RGD_ID:11041882 11697433 ABCE1 ATP binding cassette subfamily E member 1 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1313249 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (human) PMID:18788636|REF_RGD_ID:11046260 11697433 ABCE1 ATP binding cassette subfamily E member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313249 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:19657357|REF_RGD_ID:11041871 11697433 ABCE1 ATP binding cassette subfamily E member 1 gene DOID:630 genetic disease ISO RGD:1313249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697433 ABCE1 ATP binding cassette subfamily E member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1313249 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:21932399|REF_RGD_ID:11041873 11697433 ABCE1 ATP binding cassette subfamily E member 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313249 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 11697433 ABCE1 ATP binding cassette subfamily E member 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313249 D RGD:9068941 20200609 RGD mRNA:increased expression:colorectal mucosa (human) PMID:22294766|REF_RGD_ID:11041887 11697462 CMC4 C-X9-C motif containing 4 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:2308876 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11697462 CMC4 C-X9-C motif containing 4 gene DOID:0050476 Barth syndrome ISO RGD:2308876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11697462 CMC4 C-X9-C motif containing 4 gene DOID:0050800 creatine transporter deficiency ISO RGD:2308876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11697462 CMC4 C-X9-C motif containing 4 gene DOID:0112003 immunodeficiency 33 ISO RGD:2308876 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11697462 CMC4 C-X9-C motif containing 4 gene DOID:10588 adrenoleukodystrophy ISO RGD:2308876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11697462 CMC4 C-X9-C motif containing 4 gene DOID:11372 megacolon ISO RGD:2308876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11697462 CMC4 C-X9-C motif containing 4 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:2308876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11697462 CMC4 C-X9-C motif containing 4 gene DOID:12849 autistic disorder ISO RGD:2308876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11697462 CMC4 C-X9-C motif containing 4 gene DOID:13628 favism ISO RGD:2308876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11697462 CMC4 C-X9-C motif containing 4 gene DOID:2729 dyskeratosis congenita ISO RGD:2308876 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11697462 CMC4 C-X9-C motif containing 4 gene DOID:607 paraplegia ISO RGD:2308876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11697462 CMC4 C-X9-C motif containing 4 gene DOID:630 genetic disease ISO RGD:2308876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697462 CMC4 C-X9-C motif containing 4 gene DOID:9002720 Splenomegaly ISO RGD:2308876 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11697480 RARS2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1313439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:17847012|PMID:20635367|PMID:20952379|PMID:22086604|PMID:22569581|PMID:24033266|PMID:25356970|PMID:25533962|PMID:25741868|PMID:26083569|PMID:26539891|PMID:26795593|PMID:26968897|PMID:26970947|PMID:2706168|PMID:27061686|PMID:27290639|PMID:28492532|PMID:29881806|PMID:31102535|PMID:31216405|PMID:31429931|PMID:31474318|PMID:31980526|PMID:32071833|PMID:32725632|PMID:32860008|PMID:33798445|PMID:33926074|PMID:33972171|PMID:34085948|PMID:34717047|PMID:34869784 11697480 RARS2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1313439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:17847012|PMID:20635367|PMID:20952379|PMID:22086604|PMID:22569581|PMID:24033266|PMID:25356970|PMID:25533962|PMID:25741868|PMID:26083569|PMID:26539891|PMID:26795593|PMID:26968897|PMID:26970947|PMID:2706168|PMID:27061686|PMID:27290639|PMID:28492532|PMID:29881806|PMID:31102535|PMID:31216405|PMID:31429931|PMID:31474318|PMID:31980526|PMID:32071833|PMID:32725632|PMID:32860008|PMID:33798445|PMID:33926074|PMID:33972171|PMID:34085948|PMID:34717047|PMID:34869784 11697480 RARS2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:0060275 pontocerebellar hypoplasia type 6 ISO RGD:1313439 D RGD:7240710 20180130 OMIM 11697480 RARS2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:0060275 pontocerebellar hypoplasia type 6 ISO RGD:1313439 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Encephalopathy fatal infantile with mitochondrial respiratory chain defects | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 6 PMID:10447505|PMID:16199547|PMID:17576681|PMID:17847012|PMID:18414213|PMID:20635367|PMID:20952379|PMID:22086604|PMID:22569581|PMID:24047924|PMID:24123792|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25533962|PMID:25741868|PMID:25809939|PMID:26083569|PMID:26467025|PMID:26795593|PMID:26970947|PMID:2706168|PMID:27061686|PMID:27290639|PMID:27683254|PMID:28492532|PMID:29881806|PMID:30634555|PMID:31102535|PMID:31216405|PMID:31429931|PMID:31474318|PMID:31536827|PMID:31618753|PMID:31665838|PMID:32313153|PMID:32725632|PMID:32860008|PMID:33209735|PMID:33798445|PMID:33926074|PMID:33972171|PMID:34247374|PMID:34445196|PMID:34717047|PMID:9536098 11697480 RARS2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:0070258 congenital disorder of glycosylation type IIf ISO RGD:1313439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SLC35A1-CDG PMID:24033266|PMID:28492532 11697480 RARS2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:0070338 cerebellar hypoplasia ISO RGD:1313439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25533962|PMID:25741868|PMID:2706168|PMID:27061686|PMID:28492532|PMID:29881806|PMID:31429931|PMID:31474318 11697480 RARS2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:1059 intellectual disability ISO RGD:1313439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe intellectual deficiency 11697480 RARS2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:1826 epilepsy ISO RGD:1313439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11697480 RARS2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:5212 congenital disorder of glycosylation ISO RGD:1313439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:24033266|PMID:25741868|PMID:28492532 11697480 RARS2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1313439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10447505|PMID:17576681|PMID:20635367|PMID:20952379|PMID:22569581|PMID:2259581|PMID:25326635|PMID:25356970|PMID:25741868|PMID:26083569|PMID:26539891|PMID:26795593|PMID:26968897|PMID:28492532|PMID:30006346|PMID:31102535|PMID:31216405|PMID:34085948|PMID:34717047|PMID:34869784|PMID:9536098 11697512 SLBP stem-loop binding protein gene DOID:12270 coloboma ISO RGD:1350910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30695021 11697512 SLBP stem-loop binding protein gene DOID:1856 cherubism ISO RGD:1350910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11697512 SLBP stem-loop binding protein gene DOID:5723 optic atrophy ISO RGD:1350910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30695021 11697512 SLBP stem-loop binding protein gene DOID:630 genetic disease ISO RGD:1350910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697512 SLBP stem-loop binding protein gene DOID:9006597 Retinal Dysplasia ISO RGD:1350910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30695021 11697537 TRH thyrotropin releasing hormone gene DOID:0111947 immunodeficiency 21 ISO RGD:69154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 11697537 TRH thyrotropin releasing hormone gene DOID:10763 hypertension ISO RGD:3903 D RGD:9068941 20200609 RGD protein:decreased expression:diencephalon PMID:17227965|REF_RGD_ID:1600406 11697537 TRH thyrotropin releasing hormone gene DOID:10763 hypertension ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 11697537 TRH thyrotropin releasing hormone gene DOID:10914 amnestic disorder ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7562510|PMID:7617693|PMID:8405091 11697537 TRH thyrotropin releasing hormone gene DOID:11162 respiratory failure ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1305443|PMID:1833029 11697537 TRH thyrotropin releasing hormone gene DOID:1459 hypothyroidism ISO RGD:3903 D RGD:9068941 20200609 RGD protein:increased expression:hypothalamus, neuron PMID:16926379|REF_RGD_ID:1600414 11697537 TRH thyrotropin releasing hormone gene DOID:2303 stereotypic movement disorder ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8736133 11697537 TRH thyrotropin releasing hormone gene DOID:289 endometriosis ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 11697537 TRH thyrotropin releasing hormone gene DOID:630 genetic disease ISO RGD:69154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697537 TRH thyrotropin releasing hormone gene DOID:8927 learning disability ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8405091 11697537 TRH thyrotropin releasing hormone gene DOID:8986 narcolepsy ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2845442 11697537 TRH thyrotropin releasing hormone gene DOID:9000064 Cardiac Arrhythmias ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6813757 11697537 TRH thyrotropin releasing hormone gene DOID:9000495 Tremor ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:103733|PMID:416961 11697537 TRH thyrotropin releasing hormone gene DOID:9000641 Pain ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:6409194 11697537 TRH thyrotropin releasing hormone gene DOID:9002395 Hypothermia ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 11697537 TRH thyrotropin releasing hormone gene DOID:9002554 Tachycardia ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 11697537 TRH thyrotropin releasing hormone gene DOID:9003416 Post-Head Injury Coma ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8690305 11697537 TRH thyrotropin releasing hormone gene DOID:9003805 Catalepsy ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2547386 11697537 TRH thyrotropin releasing hormone gene DOID:9006315 Stupor ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:416961|PMID:8690305 11697537 TRH thyrotropin releasing hormone gene DOID:9006335 Thyrotropin-Releasing Hormone Deficiency ISO RGD:69154 D RGD:7240710 20180130 OMIM 11697537 TRH thyrotropin releasing hormone gene DOID:9006335 Thyrotropin-Releasing Hormone Deficiency ISO RGD:69154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypothalamic hypothyroidism PMID:25741868 11697537 TRH thyrotropin releasing hormone gene DOID:9007001 Bradycardia ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:6350720|PMID:6813757 11697537 TRH thyrotropin releasing hormone gene DOID:9007650 Unconsciousness ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:6281507 11697537 TRH thyrotropin releasing hormone gene DOID:9008086 Developmental Disabilities ISO RGD:69154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11697537 TRH thyrotropin releasing hormone gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:69154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 11697537 TRH thyrotropin releasing hormone gene DOID:9119 acute myeloid leukemia ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 11697537 TRH thyrotropin releasing hormone gene DOID:9270 alkaptonuria ISO RGD:69154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11697549 LOC100995494 keratin-associated protein 8-1 gene DOID:630 genetic disease ISO RGD:1354331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697554 SHARPIN SHANK associated RH domain interactor gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1603608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11697554 SHARPIN SHANK associated RH domain interactor gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1603608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11697554 SHARPIN SHANK associated RH domain interactor gene DOID:2723 dermatitis ISO RGD:1603608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19650867 11697554 SHARPIN SHANK associated RH domain interactor gene DOID:3310 atopic dermatitis ISO RGD:1549996 D RGD:9068941 20220825 MouseDO OMIM:603165 11697554 SHARPIN SHANK associated RH domain interactor gene DOID:4621 holoprosencephaly ISO RGD:1603608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11697554 SHARPIN SHANK associated RH domain interactor gene DOID:630 genetic disease ISO RGD:1603608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697554 SHARPIN SHANK associated RH domain interactor gene DOID:9001371 Eosinophilia ISO RGD:1603608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19650867 11697624 ARMCX3 armadillo repeat containing X-linked 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11697624 ARMCX3 armadillo repeat containing X-linked 3 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1604814 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 11697624 ARMCX3 armadillo repeat containing X-linked 3 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1604814 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 11697624 ARMCX3 armadillo repeat containing X-linked 3 gene DOID:12849 autistic disorder ISO RGD:1604814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11697624 ARMCX3 armadillo repeat containing X-linked 3 gene DOID:630 genetic disease ISO RGD:1604814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697643 HDAC11 histone deacetylase 11 gene DOID:0060417 3p deletion syndrome ISO RGD:1323302 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 11697643 HDAC11 histone deacetylase 11 gene DOID:630 genetic disease ISO RGD:1323302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697657 HTR3D 5-hydroxytryptamine receptor 3D pseudogene gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1344328 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11697657 HTR3D 5-hydroxytryptamine receptor 3D pseudogene gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1344328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11697657 HTR3D 5-hydroxytryptamine receptor 3D pseudogene gene DOID:0111546 Currarino syndrome ISO RGD:1344328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11697657 HTR3D 5-hydroxytryptamine receptor 3D pseudogene gene DOID:630 genetic disease ISO RGD:1344328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697674 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:1064 cystinosis ISO RGD:733197 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cystinosin, defect of | ClinVar Annotator: match by term: Nephropathic cystinosis PMID:10625078|PMID:10673275|PMID:12110740|PMID:15365816|PMID:18186520|PMID:19863563|PMID:21546516|PMID:27734949|PMID:9537412|PMID:9792862 11697674 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:11054 urinary bladder cancer ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19502594 11697674 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:11963 esophagitis ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16091555 11697674 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:14566 disease of cellular proliferation ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21349818 11697674 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:1936 atherosclerosis ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21908651 11697674 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:2548 reflex epilepsy treatment ISO RGD:628841 D RGD:9068941 20200618 RGD PMID:29105300|REF_RGD_ID:13450923 11697674 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20144892 11697674 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:3613 Canavan disease ISO RGD:733197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 11697674 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:4989 pancreatitis ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17698068 11697674 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:5844 myocardial infarction ISO RGD:628841 D RGD:9068941 20200609 RGD PMID:27671317|REF_RGD_ID:13792689 11697674 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:6050 esophageal disease ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19566590 11697674 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:630 genetic disease ISO RGD:733197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10909858|PMID:21546516|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 11697674 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:6364 migraine ISO RGD:733197 D RGD:9068941 20200609 RGD DNA:snp:intron:g.IVS2+2841C>T rs222741 (human) PMID:22162417|REF_RGD_ID:7175557 11697674 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:9000133 Sneezing ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27545873 11697674 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:9000641 Pain ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16996476|PMID:17575321|PMID:20422007|PMID:23006841 11697674 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043671 11697674 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:9002211 Hyperalgesia ISO RGD:628841 D RGD:9068941 20200609 RGD associated with inflammation;protein:increased expression:dorsal root ganglion: PMID:21958434|REF_RGD_ID:8657122 11697674 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:9002211 Hyperalgesia ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151517|PMID:18234885|PMID:18774343|PMID:23006841 11697674 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:9002714 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type ISO RGD:733197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE PMID:10625078|PMID:10673275|PMID:10909858|PMID:12110740|PMID:15365816|PMID:18186520|PMID:19863563|PMID:21546516|PMID:27102039|PMID:27734949|PMID:28492532|PMID:7668285|PMID:9537412|PMID:9792862 11697674 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:9003181 Heartburn ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19566590 11697674 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:9004409 Abderhalden-Kaufmann-Lignac Syndrome ISO RGD:733197 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome PMID:10625078|PMID:10673275|PMID:12110740|PMID:15365816|PMID:18186520|PMID:19863563|PMID:27734949|PMID:9537412|PMID:9792862 11697674 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:9005372 Inflammation ISO RGD:628841 D RGD:9068941 20200609 RGD protein:increased expression:hindpaw: PMID:21958434|REF_RGD_ID:8657122 11697674 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:9005372 Inflammation ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17575321|PMID:20712533 11697674 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:9007073 Cough ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27545873 11697674 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:733197 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:32751388 11697674 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:9007952 Cystinosis, Ocular Nonnephropathic ISO RGD:733197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic PMID:10625078|PMID:10673275|PMID:10909858|PMID:12110740|PMID:15365816|PMID:18186520|PMID:19863563|PMID:21546516|PMID:27102039|PMID:27734949|PMID:28492532|PMID:7668285|PMID:9537412|PMID:9792862 11697674 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:9970 obesity ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17347480 11697698 LMBR1L limb development membrane protein 1 like gene DOID:630 genetic disease ISO RGD:1603995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697738 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide gene DOID:0050741 alcohol dependence ISO RGD:1348288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alcohol dependence PMID:10697413|PMID:12050823|PMID:17718394|PMID:2398055|PMID:2547609|PMID:3619918|PMID:6354175|PMID:6374651|PMID:7003596|PMID:7035335 11697738 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide gene DOID:0060041 autism spectrum disorder ISO RGD:1348288 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11697738 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1348288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29718361 11697738 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide gene DOID:1574 alcohol use disorder ISO RGD:1348288 D RGD:7240710 20180509 OMIM 11697738 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide gene DOID:1574 alcohol use disorder ISO RGD:1348288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alcohol dependence PMID:10697413|PMID:12050823|PMID:17718394|PMID:2398055|PMID:2547609|PMID:3619918|PMID:6354175|PMID:6374651|PMID:7003596|PMID:7035335 11697738 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide gene DOID:3526 cerebral infarction ISO RGD:1348288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15534263 11697738 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1348288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22960999 11697738 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide gene DOID:630 genetic disease ISO RGD:1348288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697738 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide gene DOID:9000117 Esophageal Neoplasms ISO RGD:1348288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18500343 11697738 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1348288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16404797|PMID:17590986 11697738 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide gene DOID:9002346 Pharyngeal Neoplasms ISO RGD:1348288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18500343 11697738 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide gene DOID:9003613 Laryngeal Neoplasms ISO RGD:1348288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18500343 11697738 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide gene DOID:9004590 Acute Liver Failure ISO RGD:1348288 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 11697738 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide gene DOID:9007364 Mouth Neoplasms ISO RGD:1348288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18500343 11697738 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide gene DOID:9008443 Colorectal Neoplasms ISO RGD:1348288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16332725 11697738 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide gene DOID:9009187 Aerodigestive Tract Squamous Cell Carcinoma ISO RGD:1348288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aerodigestive tract cancer, squamous cell, alcohol-related, protection against PMID:10697413|PMID:12050823|PMID:2398055|PMID:2547609|PMID:6374651 11697738 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide gene DOID:9970 obesity ISO RGD:1348288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 11697751 ABRACL ABRA C-terminal like gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1351168 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 11697751 ABRACL ABRA C-terminal like gene DOID:630 genetic disease ISO RGD:1351168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697763 LOC100972251 olfactory receptor 2T3 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1345089 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11697763 LOC100972251 olfactory receptor 2T3 gene DOID:1540 parathyroid carcinoma ISO RGD:1345089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11697763 LOC100972251 olfactory receptor 2T3 gene DOID:630 genetic disease ISO RGD:1345089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697763 LOC100972251 olfactory receptor 2T3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11697766 TM7SF2 transmembrane 7 superfamily member 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1322541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11697766 TM7SF2 transmembrane 7 superfamily member 2 gene DOID:1059 intellectual disability ISO RGD:1322541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11697766 TM7SF2 transmembrane 7 superfamily member 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1322541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11697766 TM7SF2 transmembrane 7 superfamily member 2 gene DOID:2746 glycogen storage disease V ISO RGD:1322541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11697766 TM7SF2 transmembrane 7 superfamily member 2 gene DOID:3070 high grade glioma ISO RGD:1322541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11697766 TM7SF2 transmembrane 7 superfamily member 2 gene DOID:630 genetic disease ISO RGD:1322541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697780 FAM151B family with sequence similarity 151 member B gene DOID:630 genetic disease ISO RGD:1603888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697780 FAM151B family with sequence similarity 151 member B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11697796 LOC100975275 olfactory receptor 13F1 gene DOID:630 genetic disease ISO RGD:1342816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697801 WNT5B Wnt family member 5B gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1346792 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11697801 WNT5B Wnt family member 5B gene DOID:127 leiomyoma ISO RGD:1346792 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15972578 11697801 WNT5B Wnt family member 5B gene DOID:127 leiomyoma ISO RGD:1346792 D RGD:9068941 20200609 RGD Uterine leiomyoma; mRNA:increased expression:leiomyoma smooth muscle cells (SMCs):vs matched myometrial SMCs PMID:15972578|REF_RGD_ID:2298808 11697801 WNT5B Wnt family member 5B gene DOID:630 genetic disease ISO RGD:1346792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697801 WNT5B Wnt family member 5B gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1346792 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11697801 WNT5B Wnt family member 5B gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1551592 D RGD:9068941 20200609 RGD in vitro transformation of transfected C57MG mammary epithelial cell line PMID:8065359|REF_RGD_ID:2298863 11697801 WNT5B Wnt family member 5B gene DOID:9005233 Experimental Mammary Neoplasms no_association ISO RGD:1551592 D RGD:9068941 20200609 RGD in vitro transformation of transfected C57MG mammary epithelial cell line PMID:9419423|REF_RGD_ID:2298848 11697801 WNT5B Wnt family member 5B gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1346792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11697831 GRB7 growth factor receptor bound protein 7 gene DOID:0050922 gastrointestinal carcinoma ISO RGD:733273 D RGD:9068941 20220204 RGD mRNA:increased expression:stomach (human) PMID:16849520|REF_RGD_ID:151347663 11697831 GRB7 growth factor receptor bound protein 7 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:733273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 11697831 GRB7 growth factor receptor bound protein 7 gene DOID:10534 stomach cancer ISO RGD:733273 D RGD:9068941 20220204 RGD mRNA:increased expression:mucosa of stomach (human) PMID:17229543|REF_RGD_ID:151347657 11697831 GRB7 growth factor receptor bound protein 7 gene DOID:1107 esophageal carcinoma exacerbates ISO RGD:733273 D RGD:9068941 20220204 RGD mRNA:increased expression:esophagus mucosa (human) PMID:8988034|REF_RGD_ID:151347660 11697831 GRB7 growth factor receptor bound protein 7 gene DOID:299 adenocarcinoma ISO RGD:733273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 11697831 GRB7 growth factor receptor bound protein 7 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:733273 D RGD:9068941 20220204 RGD mRNA:increased expression:esophagus mucosa (human) PMID:26465158|REF_RGD_ID:151347661 11697831 GRB7 growth factor receptor bound protein 7 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:733273 D RGD:9068941 20220204 RGD protein:increased expression:esophagus (human) PMID:10797316|REF_RGD_ID:151347654 11697831 GRB7 growth factor receptor bound protein 7 gene DOID:4450 renal cell carcinoma ISO RGD:733273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 11697831 GRB7 growth factor receptor bound protein 7 gene DOID:4914 esophagus adenocarcinoma exacerbates ISO RGD:733273 D RGD:9068941 20220204 RGD human cells in a mouse model PMID:32737994|REF_RGD_ID:151347656 11697831 GRB7 growth factor receptor bound protein 7 gene DOID:4914 esophagus adenocarcinoma treatment ISO RGD:733273 D RGD:9068941 20220204 RGD PMID:31809243|REF_RGD_ID:151347659 11697831 GRB7 growth factor receptor bound protein 7 gene DOID:5517 stomach carcinoma ISO RGD:733273 D RGD:9068941 20220204 RGD mRNA:increased expression:stomach (human) PMID:9125150|REF_RGD_ID:151347662 11697831 GRB7 growth factor receptor bound protein 7 gene DOID:630 genetic disease ISO RGD:733273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697831 GRB7 growth factor receptor bound protein 7 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:733273 D RGD:9068941 20220204 RGD protein:increased expression:liver (human) PMID:17634422|REF_RGD_ID:151347655 11697831 GRB7 growth factor receptor bound protein 7 gene DOID:9002189 High Myopia ISO RGD:733273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11697831 GRB7 growth factor receptor bound protein 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11697831 GRB7 growth factor receptor bound protein 7 gene DOID:9005172 Lung Neoplasms ISO RGD:733273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 11697831 GRB7 growth factor receptor bound protein 7 gene DOID:9008939 Breast Neoplasms ISO RGD:733273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17426702|PMID:19075277 11697855 ATL3 atlastin GTPase 3 gene DOID:0070154 hereditary sensory neuropathy type 1F ISO RGD:1601766 D RGD:7240710 20180130 OMIM 11697855 ATL3 atlastin GTPase 3 gene DOID:0070154 hereditary sensory neuropathy type 1F ISO RGD:1601766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory, type 1F PMID:16199547|PMID:17576681|PMID:24459106|PMID:24736309|PMID:25741868|PMID:28492532|PMID:30680846|PMID:9536098 11697855 ATL3 atlastin GTPase 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1601766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11697855 ATL3 atlastin GTPase 3 gene DOID:10283 prostate cancer ISO RGD:1601766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11697855 ATL3 atlastin GTPase 3 gene DOID:1059 intellectual disability ISO RGD:1601766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11697855 ATL3 atlastin GTPase 3 gene DOID:2843 long QT syndrome ISO RGD:1601766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11697855 ATL3 atlastin GTPase 3 gene DOID:630 genetic disease ISO RGD:1601766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11697880 SLC23A2 solute carrier family 23 member 2 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1353786 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11697880 SLC23A2 solute carrier family 23 member 2 gene DOID:13580 cholestasis ISO RGD:1353786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18706437 11697880 SLC23A2 solute carrier family 23 member 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1353786 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11697880 SLC23A2 solute carrier family 23 member 2 gene DOID:630 genetic disease ISO RGD:1353786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697880 SLC23A2 solute carrier family 23 member 2 gene DOID:9006302 Binge Drinking ISO RGD:619876 D RGD:9068941 20200609 RGD PMID:27085842|REF_RGD_ID:26884454 11697900 PIK3IP1 phosphoinositide-3-kinase interacting protein 1 gene DOID:630 genetic disease ISO RGD:1605305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697900 PIK3IP1 phosphoinositide-3-kinase interacting protein 1 gene DOID:9775 diastolic heart failure ISO RGD:1605305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 11697912 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1351979 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11697912 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0050476 Barth syndrome ISO RGD:1351979 D RGD:7240710 20180130 OMIM 11697912 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0050476 Barth syndrome ISO RGD:1351979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria | ClinVar Annotator: match by term: MGA type II PMID:10480214|PMID:10484795|PMID:11238270|PMID:11735032|PMID:11748843|PMID:11896212|PMID:11968085|PMID:12032589|PMID:12468278|PMID:12529714|PMID:12930833|PMID:14654353|PMID:14662265|PMID:15098233|PMID:15793838|PMID:16199547|PMID:16427346|PMID:16548007|PMID:16601897|PMID:16684786|PMID:16873891|PMID:16880272|PMID:1719174|PMID:17394203|PMID:17576681|PMID:19037987|PMID:19396829|PMID:19438153|PMID:19619503|PMID:19648820|PMID:19700766|PMID:19846429|PMID:1998334|PMID:20530761|PMID:20730588|PMID:20812380|PMID:21300850|PMID:21659346|PMID:22281021|PMID:22382802|PMID:22410210|PMID:23031367|PMID:23206890|PMID:23345479|PMID:23361305|PMID:23409742|PMID:23606313|PMID:23656970|PMID:23660394|PMID:24033266|PMID:24342716|PMID:24365856|PMID:24813252|PMID:24887148|PMID:24962355|PMID:25112388|PMID:25652404|PMID:25741868|PMID:25941633|PMID:26350513|PMID:26471271|PMID:26724946|PMID:26845103|PMID:28123175|PMID:28183324|PMID:28492532|PMID:28855170|PMID:29077208|PMID:29089047|PMID:29247119|PMID:29334594|PMID:30471092|PMID:31333075|PMID:31568572|PMID:31647997|PMID:32619718|PMID:33500567|PMID:34906502|PMID:4685904|PMID:6142097|PMID:7616547|PMID:8042670|PMID:8434619|PMID:8630491|PMID:9332651|PMID:9345098|PMID:9382096|PMID:9382097|PMID:9384614|PMID:9536098 11697912 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0050700 cardiomyopathy ISO RGD:1351979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 11697912 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0050800 creatine transporter deficiency ISO RGD:1351979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11697912 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0060480 left ventricular noncompaction ISO RGD:1351979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:25741868 11697912 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11697912 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1351979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 11697912 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0081164 dilated cardiomyopathy 3B ISO RGD:1351979 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 3B 11697912 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1351979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868|PMID:28492532 11697912 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1351979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868 11697912 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1351979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 11697912 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0112003 immunodeficiency 33 ISO RGD:1351979 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11697912 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:10588 adrenoleukodystrophy ISO RGD:1351979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11697912 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1351979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11697912 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:12849 autistic disorder ISO RGD:1351979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11697912 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:12929 endocardial fibroelastosis ISO RGD:1351979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endocardial fibroelastosis PMID:19438153|PMID:19700766|PMID:20530761|PMID:24033266|PMID:24342716|PMID:25741868|PMID:25941633|PMID:26350513|PMID:28492532 11697912 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:12930 dilated cardiomyopathy ISO RGD:1351979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11896212|PMID:12468278|PMID:19438153|PMID:19700766|PMID:20530761|PMID:24033266|PMID:24342716|PMID:25741868|PMID:25941633|PMID:26350513|PMID:28492532|PMID:4685904|PMID:9382096 11697912 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:13628 favism ISO RGD:1351979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11697912 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:2729 dyskeratosis congenita ISO RGD:1351979 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11697912 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:607 paraplegia ISO RGD:1351979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11697912 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1351979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:19438153|PMID:19700766|PMID:20530761|PMID:24033266|PMID:24342716|PMID:25741868|PMID:25941633|PMID:26350513|PMID:28492532|PMID:31333075|PMID:31568572|PMID:34540771 11697912 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:9002720 Splenomegaly ISO RGD:1351979 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11697950 CRYBA4 crystallin beta A4 gene DOID:0110270 cataract 17 multiple types ISO RGD:733543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 17 multiple types PMID:12360425|PMID:16110300|PMID:17460281|PMID:17576681|PMID:20565250|PMID:21972112|PMID:25741868|PMID:28492532|PMID:32854469|PMID:33223529|PMID:9536098 11697950 CRYBA4 crystallin beta A4 gene DOID:0110271 cataract 23 ISO RGD:733543 D RGD:7240710 20180130 OMIM 11697950 CRYBA4 crystallin beta A4 gene DOID:0110271 cataract 23 ISO RGD:733543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 23 | ClinVar Annotator: match by term: Cataract 23, multiple types PMID:15452067|PMID:16199547|PMID:16960806|PMID:20577656|PMID:24968223|PMID:25741868|PMID:26694549|PMID:28166811|PMID:28450710|PMID:28492532|PMID:31555371 11697950 CRYBA4 crystallin beta A4 gene DOID:5419 schizophrenia ISO RGD:733543 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11697950 CRYBA4 crystallin beta A4 gene DOID:630 genetic disease ISO RGD:733543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11697950 CRYBA4 crystallin beta A4 gene DOID:83 cataract ISO RGD:733543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:26694549|PMID:28272538|PMID:28492532 11697950 CRYBA4 crystallin beta A4 gene DOID:9001495 Cataract, Lamellar 2 ISO RGD:733543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract, lamellar 2 PMID:26694549|PMID:28492532 11697950 CRYBA4 crystallin beta A4 gene DOID:9002474 Isolated Microphthalmia with Cataract 4 ISO RGD:733543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated, with cataract 4 PMID:26694549|PMID:28492532 11697960 MLYCD malonyl-CoA decarboxylase gene DOID:0050700 cardiomyopathy ISO RGD:731588 D RGD:9068941 20200609 RGD malonyl-CoA decarboxylase deficiency, OMIM:248360 PMID:10455107|REF_RGD_ID:1600798 11697960 MLYCD malonyl-CoA decarboxylase gene DOID:1059 intellectual disability ISO RGD:731588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 11697960 MLYCD malonyl-CoA decarboxylase gene DOID:13042 persistent fetal circulation syndrome ISO RGD:731588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 11697960 MLYCD malonyl-CoA decarboxylase gene DOID:630 genetic disease ISO RGD:731588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11697960 MLYCD malonyl-CoA decarboxylase gene DOID:9005126 Malonic Aciduria ISO RGD:731588 D RGD:7240710 20180130 OMIM 11697960 MLYCD malonyl-CoA decarboxylase gene DOID:9005126 Malonic Aciduria ISO RGD:731588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of malonyl-CoA decarboxylase PMID:10417274|PMID:10455107|PMID:12955715|PMID:16199547|PMID:17186413|PMID:17576681|PMID:22104738|PMID:22778304|PMID:23177061|PMID:23791943|PMID:25741868|PMID:28492532|PMID:31395333|PMID:32602666|PMID:6145813|PMID:7609455|PMID:8259873|PMID:9177981|PMID:9536098|PMID:9869665 11697960 MLYCD malonyl-CoA decarboxylase gene DOID:9562 primary ciliary dyskinesia ISO RGD:731588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11697972 GPR12 G protein-coupled receptor 12 gene DOID:630 genetic disease ISO RGD:68465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697972 GPR12 G protein-coupled receptor 12 gene DOID:9970 obesity ISO RGD:68466 D RGD:9068941 20220825 MouseDO OMIM:601665 11697981 H1-5 H1.5 linker histone, cluster member gene DOID:630 genetic disease ISO RGD:1351111 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11697986 SEMA3G semaphorin 3G gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1601989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 11697986 SEMA3G semaphorin 3G gene DOID:630 genetic disease ISO RGD:1601989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11698010 GHRHR growth hormone releasing hormone receptor gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:734452 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11698010 GHRHR growth hormone releasing hormone receptor gene DOID:0060870 isolated growth hormone deficiency ISO RGD:734452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated congenital growth hormone deficiency 11698010 GHRHR growth hormone releasing hormone receptor gene DOID:0060874 isolated growth hormone deficiency type IB ISO RGD:734452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DWARFISM OF SINDH | ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB PMID:10084571|PMID:10566659|PMID:10944436|PMID:10946881|PMID:11232012|PMID:11298081|PMID:11443201|PMID:11502843|PMID:11875102|PMID:12163232|PMID:12181638|PMID:12414875|PMID:12444890|PMID:12788864|PMID:12794696|PMID:16199547|PMID:16284391|PMID:16355809|PMID:16522693|PMID:17356054|PMID:17911170|PMID:18297129|PMID:18785993|PMID:19622623|PMID:21044116|PMID:22489751|PMID:23052699|PMID:25153028|PMID:25541890|PMID:25741868|PMID:28492532|PMID:31231873|PMID:8528260|PMID:9467553|PMID:9814493 11698010 GHRHR growth hormone releasing hormone receptor gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:734452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 11698010 GHRHR growth hormone releasing hormone receptor gene DOID:1923 disorder of sexual development ISO RGD:734452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 11698010 GHRHR growth hormone releasing hormone receptor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:734452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11698010 GHRHR growth hormone releasing hormone receptor gene DOID:535 sleep disorder ISO RGD:2688 D RGD:9068941 20200609 RGD mRNA:decreased expression:hypothalamus (rat) PMID:12161265|REF_RGD_ID:728477 11698010 GHRHR growth hormone releasing hormone receptor gene DOID:630 genetic disease ISO RGD:734452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11698010 GHRHR growth hormone releasing hormone receptor gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:10645 D RGD:9068941 20200609 RGD DNA:transition:cds:p.D60G (mouse) PMID:15870705|REF_RGD_ID:2301422 11698010 GHRHR growth hormone releasing hormone receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2688 D RGD:9068941 20200609 RGD PMID:18285528|REF_RGD_ID:10401258 11698010 GHRHR growth hormone releasing hormone receptor gene DOID:9007827 Upper Airway Obstruction ISO RGD:2688 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:hypothalamus PMID:21406516|REF_RGD_ID:5687169 11698010 GHRHR growth hormone releasing hormone receptor gene DOID:9008214 Genu Valgum ISO RGD:734452 D RGD:9068941 20200609 RGD DNA:mutation:intron:c.57+1G>A (human) PMID:24057284|REF_RGD_ID:10401244 11698033 MSR1 macrophage scavenger receptor 1 gene DOID:0080600 COVID-19 ISO RGD:1347158 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11698033 MSR1 macrophage scavenger receptor 1 gene DOID:0110034 X-linked Alport syndrome ISO RGD:1347158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked Alport syndrome PMID:12244320|PMID:12958598|PMID:21791690|PMID:24082139|PMID:25333069|PMID:25741868|PMID:28492532 11698033 MSR1 macrophage scavenger receptor 1 gene DOID:10283 prostate cancer ISO RGD:1347158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:12244320|PMID:12958598|PMID:21791690|PMID:24082139|PMID:25333069|PMID:25741868|PMID:28492532 11698033 MSR1 macrophage scavenger receptor 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:1347158 D RGD:9068941 20200609 RGD DNA:SNPs PMID:17903305|REF_RGD_ID:2306127 11698033 MSR1 macrophage scavenger receptor 1 gene DOID:2349 arteriosclerosis ISO RGD:1347158 D RGD:9068941 20200609 RGD PMID:14664792|REF_RGD_ID:2306130 11698033 MSR1 macrophage scavenger receptor 1 gene DOID:2349 arteriosclerosis ISO RGD:1557852 D RGD:9068941 20200609 RGD PMID:15567863|PMID:9069289|REF_RGD_ID:1582314|REF_RGD_ID:1582669 11698033 MSR1 macrophage scavenger receptor 1 gene DOID:2394 ovarian cancer ISO RGD:1347158 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 11698033 MSR1 macrophage scavenger receptor 1 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1347158 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 11698033 MSR1 macrophage scavenger receptor 1 gene DOID:630 genetic disease ISO RGD:1347158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11698033 MSR1 macrophage scavenger receptor 1 gene DOID:783 end stage renal disease ISO RGD:1347158 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 11698033 MSR1 macrophage scavenger receptor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347158 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16998812 11698033 MSR1 macrophage scavenger receptor 1 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1557852 D RGD:9068941 20200609 RGD PMID:17510407|REF_RGD_ID:2306128 11698033 MSR1 macrophage scavenger receptor 1 gene DOID:9003023 Heart Rupture, Post-Infarction ISO RGD:1557852 D RGD:9068941 20200609 RGD PMID:17389263|REF_RGD_ID:2306129 11698033 MSR1 macrophage scavenger receptor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12244320|PMID:12958598|PMID:21791690|PMID:24082139|PMID:25333069|PMID:25741868|PMID:28492532 11698033 MSR1 macrophage scavenger receptor 1 gene DOID:9007102 Myocardial Ischemia disease_progression ISO RGD:1347158 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, mononuclear cell PMID:17945237|REF_RGD_ID:2306126 11698033 MSR1 macrophage scavenger receptor 1 gene DOID:9206 Barrett's esophagus ISO RGD:1347158 D RGD:7240710 20180130 OMIM 11698033 MSR1 macrophage scavenger receptor 1 gene DOID:9206 Barrett's esophagus ISO RGD:1347158 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Barrett esophagus | ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma PMID:12244320|PMID:12958598|PMID:21791690|PMID:24082139|PMID:25333069|PMID:25741868|PMID:28492532 11698053 MOGS mannosyl-oligosaccharide glucosidase gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:732423 D RGD:7240710 20180130 OMIM 11698053 MOGS mannosyl-oligosaccharide glucosidase gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:732423 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: CDG IIb | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:10788335|PMID:12145188|PMID:16199547|PMID:24716661|PMID:25531304|PMID:25741868|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532|PMID:29235540|PMID:30587846|PMID:31925597|PMID:32246563|PMID:32860008|PMID:33058492|PMID:33261925 11698053 MOGS mannosyl-oligosaccharide glucosidase gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:732423 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 PMID:24716661 11698053 MOGS mannosyl-oligosaccharide glucosidase gene DOID:543 dystonia ISO RGD:732423 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11698053 MOGS mannosyl-oligosaccharide glucosidase gene DOID:630 genetic disease ISO RGD:732423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11698053 MOGS mannosyl-oligosaccharide glucosidase gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:732423 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11698068 IQSEC3 IQ motif and Sec7 domain ArfGEF 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1605175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 11698068 IQSEC3 IQ motif and Sec7 domain ArfGEF 3 gene DOID:630 genetic disease ISO RGD:1605175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11698068 IQSEC3 IQ motif and Sec7 domain ArfGEF 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1605175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11698088 VAMP7 vesicle associated membrane protein 7 gene DOID:0112003 immunodeficiency 33 ISO RGD:1350434 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11698088 VAMP7 vesicle associated membrane protein 7 gene DOID:11166 papillomavirus infectious disease ISO RGD:1350434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23358896 11698088 VAMP7 vesicle associated membrane protein 7 gene DOID:12849 autistic disorder ISO RGD:1350434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11698088 VAMP7 vesicle associated membrane protein 7 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1350434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23358896 11698088 VAMP7 vesicle associated membrane protein 7 gene DOID:9002720 Splenomegaly ISO RGD:1350434 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11698109 TMPRSS6 transmembrane serine protease 6 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11698109 TMPRSS6 transmembrane serine protease 6 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1316154 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11698109 TMPRSS6 transmembrane serine protease 6 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1316154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11698109 TMPRSS6 transmembrane serine protease 6 gene DOID:11252 microcytic anemia ISO RGD:1316154 D RGD:7240710 20180130 OMIM 11698109 TMPRSS6 transmembrane serine protease 6 gene DOID:11252 microcytic anemia ISO RGD:1316154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Iron-refractory iron deficiency anemia | ClinVar Annotator: match by term: Microcytic anemia PMID:18408718|PMID:18596229|PMID:19357398|PMID:19592582|PMID:19818657|PMID:20719010|PMID:23319530|PMID:25156943|PMID:25588876|PMID:25741868|PMID:25873000|PMID:27365303|PMID:27643674|PMID:28492532|PMID:32581362 11698109 TMPRSS6 transmembrane serine protease 6 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1316154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11698109 TMPRSS6 transmembrane serine protease 6 gene DOID:11758 iron deficiency anemia ISO RGD:1316154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18408718|PMID:22169218 11698109 TMPRSS6 transmembrane serine protease 6 gene DOID:630 genetic disease ISO RGD:1316154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11698140 PPM1N protein phosphatase, Mg2+/Mn2+ dependent 1N (putative) gene DOID:630 genetic disease ISO RGD:1604993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11698160 IL18R1 interleukin 18 receptor 1 gene DOID:0080685 aortic dissection ISO RGD:1318449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ascending aortic dissection PMID:34409081 11698160 IL18R1 interleukin 18 receptor 1 gene DOID:13241 Behcet's disease ISO RGD:1318449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Behcet disease PMID:25741868 11698160 IL18R1 interleukin 18 receptor 1 gene DOID:13406 pulmonary sarcoidosis severity ISO RGD:1318449 D RGD:9068941 20200609 RGD PMID:14641797|REF_RGD_ID:5024944 11698160 IL18R1 interleukin 18 receptor 1 gene DOID:2841 asthma ISO RGD:1318449 D RGD:9068941 20200609 RGD PMID:19910030|REF_RGD_ID:5024945 11698160 IL18R1 interleukin 18 receptor 1 gene DOID:2841 asthma ISO RGD:1318449 D RGD:9068941 20200609 RGD DNA:SNP: :rs3771166 (human) PMID:20860503|REF_RGD_ID:5024942 11698160 IL18R1 interleukin 18 receptor 1 gene DOID:2841 asthma ISO RGD:1318449 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:18382474|PMID:18774397|REF_RGD_ID:5024946|REF_RGD_ID:5024947 11698160 IL18R1 interleukin 18 receptor 1 gene DOID:2841 asthma ISO RGD:1318450 D RGD:9068941 20200609 RGD PMID:11972614|REF_RGD_ID:5024948 11698160 IL18R1 interleukin 18 receptor 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1318449 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15308504|REF_RGD_ID:4889841 11698160 IL18R1 interleukin 18 receptor 1 gene DOID:417 autoimmune disease ISO RGD:1318450 D RGD:9068941 20200609 RGD PMID:15470078|REF_RGD_ID:5024943 11698160 IL18R1 interleukin 18 receptor 1 gene DOID:630 genetic disease ISO RGD:1318449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11698160 IL18R1 interleukin 18 receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1318449 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:26893476|REF_RGD_ID:11538094 11698160 IL18R1 interleukin 18 receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1318450 D RGD:9068941 20200609 RGD PMID:26893476|REF_RGD_ID:11538094 11698160 IL18R1 interleukin 18 receptor 1 gene DOID:850 lung disease ISO RGD:1318449 D RGD:9068941 20200609 RGD Lung Injury;protein:increased expression:lung PMID:19265174|REF_RGD_ID:4889574 11698160 IL18R1 interleukin 18 receptor 1 gene DOID:850 lung disease ISO RGD:1318450 D RGD:9068941 20200609 RGD Lung Injury PMID:19265174|REF_RGD_ID:4889574 11698160 IL18R1 interleukin 18 receptor 1 gene DOID:9000998 Brain Injuries ISO RGD:1318449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 11698160 IL18R1 interleukin 18 receptor 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1308589 D RGD:9068941 20200609 RGD mRNA:increased expression:lymph node PMID:19269041|REF_RGD_ID:2311529 11698193 ZNF354C zinc finger protein 354C gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:736972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 11698193 ZNF354C zinc finger protein 354C gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:736972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11698193 ZNF354C zinc finger protein 354C gene DOID:0112103 Sotos syndrome 1 ISO RGD:736972 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11698193 ZNF354C zinc finger protein 354C gene DOID:630 genetic disease ISO RGD:736972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11698235 COQ2 coenzyme Q2, polyprenyltransferase gene DOID:0050730 coenzyme Q10 deficiency disease ISO RGD:1603662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CoQ10 deficiency, primary | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary PMID:16116126|PMID:16400613|PMID:17332895|PMID:17374725|PMID:17420317|PMID:17855635|PMID:20495179|PMID:20689595|PMID:23349334|PMID:23758206|PMID:24988567|PMID:25349199|PMID:25525159|PMID:25548529|PMID:25594503|PMID:25741868|PMID:27493029|PMID:28492532|PMID:29127259|PMID:29637272|PMID:29869118|PMID:30295827|PMID:30613928 11698235 COQ2 coenzyme Q2, polyprenyltransferase gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1603662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 11698235 COQ2 coenzyme Q2, polyprenyltransferase gene DOID:0070238 primary coenzyme Q10 deficiency 1 ISO RGD:1603662 D RGD:7240710 20180130 OMIM 11698235 COQ2 coenzyme Q2, polyprenyltransferase gene DOID:0070238 primary coenzyme Q10 deficiency 1 ISO RGD:1603662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 1 PMID:16116126|PMID:16400613|PMID:17332895|PMID:17374725|PMID:17420317|PMID:17855635|PMID:20495179|PMID:20689595|PMID:23343605|PMID:23349334|PMID:23758206|PMID:24033266|PMID:24988567|PMID:25349199|PMID:25373618|PMID:25525159|PMID:25548529|PMID:25594503|PMID:25741868|PMID:27493029|PMID:28492532|PMID:28780565|PMID:29127259|PMID:29637272|PMID:29869118|PMID:30180404|PMID:30295827|PMID:30613928|PMID:32604935|PMID:32746448 11698235 COQ2 coenzyme Q2, polyprenyltransferase gene DOID:10603 glucose intolerance ISO RGD:1306722 D RGD:9068941 20200609 RGD associated with obesity PMID:26296322|REF_RGD_ID:10755343 11698235 COQ2 coenzyme Q2, polyprenyltransferase gene DOID:1184 nephrotic syndrome ISO RGD:1603662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:17855635|PMID:20495179|PMID:20689595|PMID:23349334|PMID:25349199|PMID:25741868|PMID:27493029|PMID:28492532|PMID:29127259|PMID:29637272|PMID:29869118|PMID:30295827 11698235 COQ2 coenzyme Q2, polyprenyltransferase gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1603662 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:24033266|PMID:25741868|PMID:28492532 11698235 COQ2 coenzyme Q2, polyprenyltransferase gene DOID:4752 multiple system atrophy ISO RGD:1603662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple system atrophy PMID:17420317|PMID:23758206|PMID:24988567|PMID:24988568|PMID:24988569|PMID:25548529|PMID:25594503|PMID:25741868|PMID:27493029|PMID:28492532|PMID:30613928 11698235 COQ2 coenzyme Q2, polyprenyltransferase gene DOID:557 kidney disease ISO RGD:1603662 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868 11698235 COQ2 coenzyme Q2, polyprenyltransferase gene DOID:630 genetic disease ISO RGD:1603662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17420317|PMID:17855635|PMID:20495179|PMID:20689595|PMID:23349334|PMID:23758206|PMID:24988567|PMID:25349199|PMID:25548529|PMID:25594503|PMID:25741868|PMID:27394078|PMID:27493029|PMID:28492532|PMID:29127259|PMID:29637272|PMID:29869118|PMID:30295827|PMID:30613928|PMID:32746448 11698235 COQ2 coenzyme Q2, polyprenyltransferase gene DOID:9002322 Shy-Drager Syndrome ISO RGD:1603662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Shy-Drager syndrome PMID:17420317|PMID:23758206|PMID:24988567|PMID:25548529|PMID:25594503|PMID:25741868|PMID:27493029|PMID:28492532|PMID:30613928 11698235 COQ2 coenzyme Q2, polyprenyltransferase gene DOID:9007501 Multiple System Atrophy (MSA) with Orthostatic Hypotension ISO RGD:1603662 D RGD:7240710 20230505 OMIM 11698235 COQ2 coenzyme Q2, polyprenyltransferase gene DOID:9007501 Multiple System Atrophy (MSA) with Orthostatic Hypotension ISO RGD:1603662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple system atrophy (MSA) with orthostatic hypotension PMID:17420317|PMID:23758206|PMID:24988567|PMID:25548529|PMID:25594503|PMID:25741868|PMID:27493029|PMID:28492532|PMID:30613928 11698235 COQ2 coenzyme Q2, polyprenyltransferase gene DOID:9007692 Insulin Resistance ISO RGD:1306722 D RGD:9068941 20200609 RGD associated with obesity PMID:26296322|REF_RGD_ID:10755343 11698235 COQ2 coenzyme Q2, polyprenyltransferase gene DOID:936 brain disease ISO RGD:1603662 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 11698246 MRPL39 mitochondrial ribosomal protein L39 gene DOID:10652 Alzheimer's disease ISO RGD:1348143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562|PMID:25741868 11698246 MRPL39 mitochondrial ribosomal protein L39 gene DOID:3652 Leigh disease ISO RGD:1348143 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868 11698246 MRPL39 mitochondrial ribosomal protein L39 gene DOID:630 genetic disease ISO RGD:1348143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11698246 MRPL39 mitochondrial ribosomal protein L39 gene DOID:700 mitochondrial metabolism disease ISO RGD:1348143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease 11698246 MRPL39 mitochondrial ribosomal protein L39 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11698267 FRRS1 ferric chelate reductase 1 gene DOID:0080600 COVID-19 ISO RGD:1604148 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11698267 FRRS1 ferric chelate reductase 1 gene DOID:630 genetic disease ISO RGD:1604148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11698294 MRPS27 mitochondrial ribosomal protein S27 gene DOID:630 genetic disease ISO RGD:1323490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11698294 MRPS27 mitochondrial ribosomal protein S27 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11698315 AOC2 amine oxidase copper containing 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1344698 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11698315 AOC2 amine oxidase copper containing 2 gene DOID:630 genetic disease ISO RGD:1344698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11698323 PSMA8 proteasome 20S subunit alpha 8 gene DOID:1059 intellectual disability ISO RGD:1349882 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11698323 PSMA8 proteasome 20S subunit alpha 8 gene DOID:630 genetic disease ISO RGD:1349882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11698340 ESYT3 extended synaptotagmin 3 gene DOID:630 genetic disease ISO RGD:1605327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11698383 IQGAP3 IQ motif containing GTPase activating protein 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1314286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11698383 IQGAP3 IQ motif containing GTPase activating protein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1314286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 11698383 IQGAP3 IQ motif containing GTPase activating protein 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1314286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11698383 IQGAP3 IQ motif containing GTPase activating protein 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11698383 IQGAP3 IQ motif containing GTPase activating protein 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314286 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11698383 IQGAP3 IQ motif containing GTPase activating protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1314286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11698383 IQGAP3 IQ motif containing GTPase activating protein 3 gene DOID:5812 MHC class II deficiency ISO RGD:1314286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11698383 IQGAP3 IQ motif containing GTPase activating protein 3 gene DOID:630 genetic disease ISO RGD:1314286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11698383 IQGAP3 IQ motif containing GTPase activating protein 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1314286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11698383 IQGAP3 IQ motif containing GTPase activating protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11698430 ARMC2 armadillo repeat containing 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1350350 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 11698430 ARMC2 armadillo repeat containing 2 gene DOID:0111919 spermatogenic failure 38 ISO RGD:1350350 D RGD:7240710 20190619 OMIM 11698430 ARMC2 armadillo repeat containing 2 gene DOID:0111919 spermatogenic failure 38 ISO RGD:1350350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 38 PMID:30686508 11698430 ARMC2 armadillo repeat containing 2 gene DOID:12336 male infertility ISO RGD:1622123 D RGD:9068941 20220825 MouseDO 11698430 ARMC2 armadillo repeat containing 2 gene DOID:630 genetic disease ISO RGD:1350350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11698462 LPAR3 lysophosphatidic acid receptor 3 gene DOID:630 genetic disease ISO RGD:1323219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11698467 PIK3C3 phosphatidylinositol 3-kinase catalytic subunit type 3 gene DOID:1059 intellectual disability ISO RGD:732994 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11698467 PIK3C3 phosphatidylinositol 3-kinase catalytic subunit type 3 gene DOID:630 genetic disease ISO RGD:732994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11698507 MAP3K15 mitogen-activated protein kinase kinase kinase 15 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1345894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11698507 MAP3K15 mitogen-activated protein kinase kinase kinase 15 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11698507 MAP3K15 mitogen-activated protein kinase kinase kinase 15 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1345894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11698507 MAP3K15 mitogen-activated protein kinase kinase kinase 15 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1345894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11698507 MAP3K15 mitogen-activated protein kinase kinase kinase 15 gene DOID:12849 autistic disorder ISO RGD:1345894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11698507 MAP3K15 mitogen-activated protein kinase kinase kinase 15 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1345894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11698507 MAP3K15 mitogen-activated protein kinase kinase kinase 15 gene DOID:630 genetic disease ISO RGD:1345894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11698507 MAP3K15 mitogen-activated protein kinase kinase kinase 15 gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:1345894 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:25741868 11698507 MAP3K15 mitogen-activated protein kinase kinase kinase 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11698541 LOC100977055 patr class I histocompatibility antigen, alpha chain E gene DOID:0080820 occupational asthma susceptibility ISO RGD:1353823 D RGD:9068941 20230427 RGD DNA:SNP: :rs1573294(human) PMID:24709764|REF_RGD_ID:13506912 11698541 LOC100977055 patr class I histocompatibility antigen, alpha chain E gene DOID:11372 megacolon ISO RGD:1353823 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11698541 LOC100977055 patr class I histocompatibility antigen, alpha chain E gene DOID:9007102 Myocardial Ischemia ISO RGD:1558332 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11698541 LOC100977055 patr class I histocompatibility antigen, alpha chain E gene DOID:9088 parapsoriasis ISO RGD:1353823 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:16538176 11698557 PLIN4 perilipin 4 gene DOID:13938 amenorrhea ISO RGD:1347657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11698557 PLIN4 perilipin 4 gene DOID:630 genetic disease ISO RGD:1347657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11698570 THOC7 THO complex subunit 7 gene DOID:630 genetic disease ISO RGD:1602206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11698588 MORN1 MORN repeat containing 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1602465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11698588 MORN1 MORN repeat containing 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11698588 MORN1 MORN repeat containing 1 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1602465 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11698588 MORN1 MORN repeat containing 1 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1602465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11698588 MORN1 MORN repeat containing 1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1602465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11698588 MORN1 MORN repeat containing 1 gene DOID:0111934 immunodeficiency 38 ISO RGD:1602465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11698588 MORN1 MORN repeat containing 1 gene DOID:0111935 immunodeficiency 16 ISO RGD:1602465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11698588 MORN1 MORN repeat containing 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1602465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11698588 MORN1 MORN repeat containing 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1602465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11698588 MORN1 MORN repeat containing 1 gene DOID:630 genetic disease ISO RGD:1602465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11698588 MORN1 MORN repeat containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11698588 MORN1 MORN repeat containing 1 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1602465 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11698588 MORN1 MORN repeat containing 1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1602465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11698625 LOC100981940 transmembrane serine protease 11B gene DOID:630 genetic disease ISO RGD:1606722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11698625 LOC100981940 transmembrane serine protease 11B gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1606722 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11698640 PNPLA4 patatin like phospholipase domain containing 4 gene DOID:12849 autistic disorder ISO RGD:1346226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11698640 PNPLA4 patatin like phospholipase domain containing 4 gene DOID:13938 amenorrhea ISO RGD:1346226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11698640 PNPLA4 patatin like phospholipase domain containing 4 gene DOID:1700 X-linked ichthyosis ISO RGD:1346226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recessive X-linked ichthyosis PMID:18413370|PMID:3007328|PMID:7208152 11698640 PNPLA4 patatin like phospholipase domain containing 4 gene DOID:1969 cerebral palsy ISO RGD:1346226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 11698640 PNPLA4 patatin like phospholipase domain containing 4 gene DOID:5419 schizophrenia ISO RGD:1346226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11698640 PNPLA4 patatin like phospholipase domain containing 4 gene DOID:543 dystonia ISO RGD:1346226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11698640 PNPLA4 patatin like phospholipase domain containing 4 gene DOID:630 genetic disease ISO RGD:1346226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11698640 PNPLA4 patatin like phospholipase domain containing 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11698658 CLDN25 claudin 25 gene DOID:1059 intellectual disability ISO RGD:3436494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11698658 CLDN25 claudin 25 gene DOID:630 genetic disease ISO RGD:3436494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11698658 CLDN25 claudin 25 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:3436494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11698679 AP3M1 adaptor related protein complex 3 subunit mu 1 gene DOID:0110446 dilated cardiomyopathy 1W ISO RGD:734238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:11815424|PMID:16236538|PMID:21681106 11698679 AP3M1 adaptor related protein complex 3 subunit mu 1 gene DOID:630 genetic disease ISO RGD:734238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11698679 AP3M1 adaptor related protein complex 3 subunit mu 1 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:734238 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:28492532 11698710 CCBE1 collagen and calcium binding EGF domains 1 gene DOID:0060366 Hennekam syndrome ISO RGD:1349047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19911200|PMID:19935664 11698710 CCBE1 collagen and calcium binding EGF domains 1 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1349047 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 11698710 CCBE1 collagen and calcium binding EGF domains 1 gene DOID:0111988 immunodeficiency 12 ISO RGD:1349047 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 11698710 CCBE1 collagen and calcium binding EGF domains 1 gene DOID:1059 intellectual disability ISO RGD:1349047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19935664 11698710 CCBE1 collagen and calcium binding EGF domains 1 gene DOID:630 genetic disease ISO RGD:1349047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:19935664|PMID:21778431|PMID:25741868|PMID:26686525|PMID:28492532|PMID:28985353|PMID:31453292 11698710 CCBE1 collagen and calcium binding EGF domains 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1349047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11698710 CCBE1 collagen and calcium binding EGF domains 1 gene DOID:9001487 Facies ISO RGD:1349047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19935664 11698710 CCBE1 collagen and calcium binding EGF domains 1 gene DOID:9003821 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 ISO RGD:1349047 D RGD:7240710 20190320 OMIM 11698710 CCBE1 collagen and calcium binding EGF domains 1 gene DOID:9003821 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 ISO RGD:1349047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 PMID:16199547|PMID:17576681|PMID:19911200|PMID:19935664|PMID:21778431|PMID:22239599|PMID:23653581|PMID:24033266|PMID:24167460|PMID:25741868|PMID:26686525|PMID:27323140|PMID:28073151|PMID:28492532|PMID:28985353|PMID:31453292|PMID:32472549|PMID:32629717|PMID:9536098 11698710 CCBE1 collagen and calcium binding EGF domains 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1349047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19911200 11698726 ABLIM1 actin binding LIM protein 1 gene DOID:303 substance-related disorder ISO RGD:1346152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11698726 ABLIM1 actin binding LIM protein 1 gene DOID:630 genetic disease ISO RGD:1346152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11698785 LATS2 large tumor suppressor kinase 2 gene DOID:1788 peritoneal mesothelioma ISO RGD:1314216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant peritoneal mesothelioma 11698785 LATS2 large tumor suppressor kinase 2 gene DOID:3069 malignant astrocytoma ISO RGD:1314216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17049657 11698785 LATS2 large tumor suppressor kinase 2 gene DOID:630 genetic disease ISO RGD:1314216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11698785 LATS2 large tumor suppressor kinase 2 gene DOID:9256 colorectal cancer treatment ISO RGD:1314216 D RGD:9068941 20220728 RGD Human cells in mouse model PMID:32682784|REF_RGD_ID:153297782 11698798 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:0060041 autism spectrum disorder ISO RGD:1342489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:23160955|PMID:25741868|PMID:28492532|PMID:30504930 11698798 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:0060261 congenital ptosis ISO RGD:1342489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital ptosis PMID:25741868|PMID:32267004 11698798 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:0070053 autosomal dominant intellectual developmental disorder 23 ISO RGD:1342489 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 23 PMID:25741868 11698798 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1342489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:11528500|PMID:23105016|PMID:28492532 11698798 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:1059 intellectual disability ISO RGD:1342489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11698798 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:12849 autistic disorder ISO RGD:1342489 D RGD:8554872 20220517 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: CHD8-Related Disorder | ClinVar Annotator: match by term: CHD8-Related Disorders PMID:25741868 11698798 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1342489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 11698798 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:630 genetic disease ISO RGD:1342489 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18378692|PMID:21447119|PMID:22083958|PMID:22495306|PMID:23160955|PMID:23835524|PMID:24267886|PMID:24998929|PMID:25741868|PMID:26789910|PMID:27824329|PMID:27959697|PMID:28475857|PMID:28492532|PMID:28600779|PMID:31130284|PMID:31311581|PMID:31721432|PMID:32309624|PMID:32801363|PMID:32951261|PMID:33004838|PMID:33352116|PMID:9536098 11698798 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:77 gastrointestinal system disease ISO RGD:1342489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24998929 11698798 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:9000443 Intellectual Developmental Disorder with Autism and Macrocephaly ISO RGD:1342489 D RGD:7240710 20220518 OMIM 11698798 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:9000443 Intellectual Developmental Disorder with Autism and Macrocephaly ISO RGD:1342489 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism, susceptibility to, 18 PMID:18414213|PMID:22495309|PMID:23160955|PMID:24998929|PMID:25326635|PMID:25326637|PMID:25363760|PMID:25741868|PMID:25741869|PMID:26789910|PMID:27824329|PMID:27959697|PMID:28191890|PMID:28492532|PMID:28600779|PMID:28714951|PMID:29389947|PMID:30504930|PMID:30670789|PMID:31001818|PMID:31130284|PMID:31721432|PMID:31980904|PMID:31981491|PMID:32309624|PMID:34906502 11698798 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:9001487 Facies ISO RGD:1342489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30670789 11698798 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:9003816 Macrocephaly ISO RGD:1342489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868|PMID:32267004 11698798 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342489 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:23160955|PMID:25741868 11698798 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1342489 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11698798 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1342489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11698798 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:9008582 Developmental Disease ISO RGD:1342489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11698841 VPS28 VPS28 subunit of ESCRT-I gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1315210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11698841 VPS28 VPS28 subunit of ESCRT-I gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1315210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11698841 VPS28 VPS28 subunit of ESCRT-I gene DOID:4621 holoprosencephaly ISO RGD:1315210 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11698841 VPS28 VPS28 subunit of ESCRT-I gene DOID:630 genetic disease ISO RGD:1315210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11698855 NIPAL3 NIPA like domain containing 3 gene DOID:630 genetic disease ISO RGD:1603619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11698855 NIPAL3 NIPA like domain containing 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1603619 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17173048 11698855 NIPAL3 NIPA like domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11698874 LOC100992118 cytochrome c oxidase assembly protein COX20, mitochondrial gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1319259 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11698874 LOC100992118 cytochrome c oxidase assembly protein COX20, mitochondrial gene DOID:1540 parathyroid carcinoma ISO RGD:1319259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11698874 LOC100992118 cytochrome c oxidase assembly protein COX20, mitochondrial gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1319259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:17576681|PMID:25741868|PMID:28492532|PMID:30656193|PMID:32827528|PMID:9536098 11698874 LOC100992118 cytochrome c oxidase assembly protein COX20, mitochondrial gene DOID:630 genetic disease ISO RGD:1319259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11698874 LOC100992118 cytochrome c oxidase assembly protein COX20, mitochondrial gene DOID:9000374 Mitochondrial Complex IV Deficiency, Nuclear Type 11 ISO RGD:1319259 D RGD:7240710 20201111 OMIM 11698874 LOC100992118 cytochrome c oxidase assembly protein COX20, mitochondrial gene DOID:9000374 Mitochondrial Complex IV Deficiency, Nuclear Type 11 ISO RGD:1319259 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11 PMID:17576681|PMID:23125284|PMID:24202787|PMID:25741868|PMID:28492532|PMID:30656193|PMID:31079202|PMID:32827528|PMID:33751098|PMID:36136859|PMID:9536098 11698874 LOC100992118 cytochrome c oxidase assembly protein COX20, mitochondrial gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1319259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:28492532 11698874 LOC100992118 cytochrome c oxidase assembly protein COX20, mitochondrial gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:1319259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:17576681|PMID:25741868|PMID:28492532|PMID:30656193|PMID:32827528|PMID:9536098 11698874 LOC100992118 cytochrome c oxidase assembly protein COX20, mitochondrial gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11698887 TRIM77 tripartite motif containing 77 gene DOID:1059 intellectual disability ISO RGD:2293601 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Intellectual disability 11698887 TRIM77 tripartite motif containing 77 gene DOID:630 genetic disease ISO RGD:2293601 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11698902 POLI DNA polymerase iota gene DOID:1059 intellectual disability ISO RGD:1313103 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11698902 POLI DNA polymerase iota gene DOID:630 genetic disease ISO RGD:1313103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11698925 CEND1 cell cycle exit and neuronal differentiation 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11698925 CEND1 cell cycle exit and neuronal differentiation 1 gene DOID:0050729 neutral lipid storage disease ISO RGD:1602711 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 11698925 CEND1 cell cycle exit and neuronal differentiation 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1602711 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11698925 CEND1 cell cycle exit and neuronal differentiation 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:1602711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11698925 CEND1 cell cycle exit and neuronal differentiation 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11698925 CEND1 cell cycle exit and neuronal differentiation 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1602711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11698925 CEND1 cell cycle exit and neuronal differentiation 1 gene DOID:630 genetic disease ISO RGD:1602711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11698925 CEND1 cell cycle exit and neuronal differentiation 1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1602711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11698931 REEP5 receptor accessory protein 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314440 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:11257105|PMID:12136240|PMID:14672538|PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11698931 REEP5 receptor accessory protein 5 gene DOID:13580 cholestasis ISO RGD:1314440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 11698931 REEP5 receptor accessory protein 5 gene DOID:630 genetic disease ISO RGD:1314440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11698931 REEP5 receptor accessory protein 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11698931 REEP5 receptor accessory protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11698931 REEP5 receptor accessory protein 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 11698931 REEP5 receptor accessory protein 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314440 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11698931 REEP5 receptor accessory protein 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1314440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 11698941 TOP2A DNA topoisomerase II alpha gene DOID:0060074 ductal carcinoma in situ severity ISO RGD:1352729 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:11070118|REF_RGD_ID:2315133 11698941 TOP2A DNA topoisomerase II alpha gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1352729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dna topoisomerase II, resistance to inhibition of, by amsacrine PMID:1651812 11698941 TOP2A DNA topoisomerase II alpha gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11698941 TOP2A DNA topoisomerase II alpha gene DOID:0080600 COVID-19 ISO RGD:1352729 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11698941 TOP2A DNA topoisomerase II alpha gene DOID:10283 prostate cancer ISO RGD:1352729 D RGD:9068941 20200609 RGD PMID:18347174|REF_RGD_ID:2315130 11698941 TOP2A DNA topoisomerase II alpha gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1352729 D RGD:9068941 20200609 RGD PMID:19913893|REF_RGD_ID:2315121 11698941 TOP2A DNA topoisomerase II alpha gene DOID:11612 polycystic ovary syndrome ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11698941 TOP2A DNA topoisomerase II alpha gene DOID:11624 penile benign neoplasm severity ISO RGD:1352729 D RGD:9068941 20200609 RGD PMID:18489530|REF_RGD_ID:2315128 11698941 TOP2A DNA topoisomerase II alpha gene DOID:1240 leukemia ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15833037 11698941 TOP2A DNA topoisomerase II alpha gene DOID:2154 nephroblastoma ISO RGD:1352729 D RGD:9068941 20200609 RGD PMID:16556665|REF_RGD_ID:2315131 11698941 TOP2A DNA topoisomerase II alpha gene DOID:2154 nephroblastoma ISO RGD:1352729 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:12438255|REF_RGD_ID:2315132 11698941 TOP2A DNA topoisomerase II alpha gene DOID:2843 long QT syndrome ISO RGD:1352729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11698941 TOP2A DNA topoisomerase II alpha gene DOID:3070 high grade glioma ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18402387 11698941 TOP2A DNA topoisomerase II alpha gene DOID:3910 lung adenocarcinoma ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11698941 TOP2A DNA topoisomerase II alpha gene DOID:3948 adrenocortical carcinoma ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23533247 11698941 TOP2A DNA topoisomerase II alpha gene DOID:630 genetic disease ISO RGD:1352729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11698941 TOP2A DNA topoisomerase II alpha gene DOID:684 hepatocellular carcinoma ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11698941 TOP2A DNA topoisomerase II alpha gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1352729 D RGD:9068941 20200609 RGD PMID:19051821|REF_RGD_ID:2315126 11698941 TOP2A DNA topoisomerase II alpha gene DOID:9000918 Disease Progression ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22204715|PMID:30132517 11698941 TOP2A DNA topoisomerase II alpha gene DOID:9002265 Kidney Neoplasms disease_progression ISO RGD:1352729 D RGD:9068941 20200609 RGD PMID:19539329|REF_RGD_ID:2315122 11698941 TOP2A DNA topoisomerase II alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17363613 11698941 TOP2A DNA topoisomerase II alpha gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1352729 D RGD:9068941 20200609 RGD PMID:19270648|REF_RGD_ID:2315125 11698941 TOP2A DNA topoisomerase II alpha gene DOID:9002801 Recurrence ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20079691|PMID:22204715|PMID:30132517 11698941 TOP2A DNA topoisomerase II alpha gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11698941 TOP2A DNA topoisomerase II alpha gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1352729 D RGD:9068941 20200609 RGD PMID:19347305|REF_RGD_ID:2315124 11698941 TOP2A DNA topoisomerase II alpha gene DOID:9004484 Sepsis ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27978524 11698941 TOP2A DNA topoisomerase II alpha gene DOID:9006205 Animal Disease Models ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11698941 TOP2A DNA topoisomerase II alpha gene DOID:9007188 Liver Neoplasms ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30132517 11698941 TOP2A DNA topoisomerase II alpha gene DOID:9008939 Breast Neoplasms ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11583189|PMID:12006526|PMID:16234514|PMID:22204715 11698941 TOP2A DNA topoisomerase II alpha gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1352729 D RGD:9068941 20200609 RGD PMID:19996222|REF_RGD_ID:2315120 11698941 TOP2A DNA topoisomerase II alpha gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1352729 D RGD:9068941 20200609 RGD DNA:amplification, deletion (human) PMID:18465341|REF_RGD_ID:2315129 11698941 TOP2A DNA topoisomerase II alpha gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1352729 D RGD:9068941 20200609 RGD DNA:deletion (human) PMID:18702822|REF_RGD_ID:2315127 11698990 SLC35G6 solute carrier family 35 member G6 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1345092 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11698990 SLC35G6 solute carrier family 35 member G6 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1345092 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11698990 SLC35G6 solute carrier family 35 member G6 gene DOID:1059 intellectual disability ISO RGD:1345092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11698990 SLC35G6 solute carrier family 35 member G6 gene DOID:12177 common variable immunodeficiency ISO RGD:1345092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11698990 SLC35G6 solute carrier family 35 member G6 gene DOID:2729 dyskeratosis congenita ISO RGD:1345092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11698990 SLC35G6 solute carrier family 35 member G6 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1345092 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11698990 SLC35G6 solute carrier family 35 member G6 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1345092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 11698990 SLC35G6 solute carrier family 35 member G6 gene DOID:630 genetic disease ISO RGD:1345092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699022 SELENOS selenoprotein S gene DOID:0050860 colorectal adenoma ISO RGD:1601754 D RGD:9068941 20220407 RGD mRNA:decreased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 11699022 SELENOS selenoprotein S gene DOID:0080199 colorectal carcinoma ISO RGD:1601754 D RGD:9068941 20220407 RGD mRNA:decreased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 11699022 SELENOS selenoprotein S gene DOID:3908 lung non-small cell carcinoma ISO RGD:1601754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20471133 11699022 SELENOS selenoprotein S gene DOID:630 genetic disease ISO RGD:1601754 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699022 SELENOS selenoprotein S gene DOID:9002304 Prostatic Neoplasms ISO RGD:1601754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11699022 SELENOS selenoprotein S gene DOID:9005372 Inflammation ISO RGD:1601754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16227999 11699036 LOC100970781 protein FAM234B gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1605976 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 11699036 LOC100970781 protein FAM234B gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1605976 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 11699036 LOC100970781 protein FAM234B gene DOID:630 genetic disease ISO RGD:1605976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699058 CBX6 chromobox 6 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11699058 CBX6 chromobox 6 gene DOID:3068 glioblastoma disease_progression ISO RGD:1316437 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:astrocyte: PMID:24260522|REF_RGD_ID:9587354 11699058 CBX6 chromobox 6 gene DOID:630 genetic disease ISO RGD:1316437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699068 GMEB2 glucocorticoid modulatory element binding protein 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 11699068 GMEB2 glucocorticoid modulatory element binding protein 2 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:736932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 11699068 GMEB2 glucocorticoid modulatory element binding protein 2 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:736932 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 11699068 GMEB2 glucocorticoid modulatory element binding protein 2 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:736932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11699068 GMEB2 glucocorticoid modulatory element binding protein 2 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:736932 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 11699068 GMEB2 glucocorticoid modulatory element binding protein 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 11699068 GMEB2 glucocorticoid modulatory element binding protein 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 11699068 GMEB2 glucocorticoid modulatory element binding protein 2 gene DOID:630 genetic disease ISO RGD:736932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699068 GMEB2 glucocorticoid modulatory element binding protein 2 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:736932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 11699085 IFI44L interferon induced protein 44 like gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1352700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 11699085 IFI44L interferon induced protein 44 like gene DOID:1470 major depressive disorder ISO RGD:1352700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29175309 11699085 IFI44L interferon induced protein 44 like gene DOID:630 genetic disease ISO RGD:1352700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699085 IFI44L interferon induced protein 44 like gene DOID:9001488 Human Influenza ISO RGD:1352700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11699107 BRICD5 BRICHOS domain containing 5 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1602822 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 11699107 BRICD5 BRICHOS domain containing 5 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1602822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 11699107 BRICD5 BRICHOS domain containing 5 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1602822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11699107 BRICD5 BRICHOS domain containing 5 gene DOID:1826 epilepsy ISO RGD:1602822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11699107 BRICD5 BRICHOS domain containing 5 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1602822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11699107 BRICD5 BRICHOS domain containing 5 gene DOID:2871 endometrial carcinoma ISO RGD:1602822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 11699107 BRICD5 BRICHOS domain containing 5 gene DOID:630 genetic disease ISO RGD:1602822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699107 BRICD5 BRICHOS domain containing 5 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1602822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 11699120 UBE2K ubiquitin conjugating enzyme E2 K gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1323181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 11699134 IQUB IQ motif and ubiquitin domain containing gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11699134 IQUB IQ motif and ubiquitin domain containing gene DOID:630 genetic disease ISO RGD:1606694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699157 UBASH3B ubiquitin associated and SH3 domain containing B gene DOID:5419 schizophrenia ISO RGD:1605914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11699157 UBASH3B ubiquitin associated and SH3 domain containing B gene DOID:630 genetic disease ISO RGD:1605914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699157 UBASH3B ubiquitin associated and SH3 domain containing B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11699157 UBASH3B ubiquitin associated and SH3 domain containing B gene DOID:9007661 Dwarfism ISO RGD:1605914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11699180 USP7 ubiquitin specific peptidase 7 gene DOID:0060174 GABA aminotransferase deficiency ISO RGD:1315800 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency PMID:25738457|PMID:28492532 11699180 USP7 ubiquitin specific peptidase 7 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1315800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 11699180 USP7 ubiquitin specific peptidase 7 gene DOID:1059 intellectual disability ISO RGD:1315800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11699180 USP7 ubiquitin specific peptidase 7 gene DOID:11054 urinary bladder cancer ISO RGD:1315800 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 11699180 USP7 ubiquitin specific peptidase 7 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1315800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 11699180 USP7 ubiquitin specific peptidase 7 gene DOID:5812 MHC class II deficiency ISO RGD:1315800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11699180 USP7 ubiquitin specific peptidase 7 gene DOID:630 genetic disease ISO RGD:1315800 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11699180 USP7 ubiquitin specific peptidase 7 gene DOID:9000141 Autosomal Dominant Intellectual Developmental Disorder 58 ISO RGD:1315800 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 58 PMID:25741868 11699180 USP7 ubiquitin specific peptidase 7 gene DOID:9001064 Hao-Fountain Syndrome ISO RGD:1315800 D RGD:7240710 20200722 OMIM 11699180 USP7 ubiquitin specific peptidase 7 gene DOID:9001064 Hao-Fountain Syndrome ISO RGD:1315800 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hao-Fountain syndrome | ClinVar Annotator: match by term: USP7-related neurodevelopmental disorder PMID:25741868|PMID:26365382|PMID:28492532|PMID:30679821 11699180 USP7 ubiquitin specific peptidase 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315800 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11699180 USP7 ubiquitin specific peptidase 7 gene DOID:9003816 Macrocephaly ISO RGD:1315800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868 11699180 USP7 ubiquitin specific peptidase 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11699180 USP7 ubiquitin specific peptidase 7 gene DOID:9005603 Muscle Hypotonia ISO RGD:1315800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotonia PMID:25741868 11699215 ZNF784 zinc finger protein 784 gene DOID:630 genetic disease ISO RGD:1602066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699221 AIRE autoimmune regulator gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1322440 D RGD:7240710 20180130 OMIM 11699221 AIRE autoimmune regulator gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1322440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:10084559|PMID:10677297|PMID:10720083|PMID:10946904|PMID:11275943|PMID:11343230|PMID:11524731|PMID:11524733|PMID:11600535|PMID:11836330|PMID:12050215|PMID:12471056|PMID:12503856|PMID:12542742|PMID:12625412|PMID:12843157|PMID:14557425|PMID:14582926|PMID:14974083|PMID:15511668|PMID:15712268|PMID:15811934|PMID:16114041|PMID:16166780|PMID:16199547|PMID:16313305|PMID:16684821|PMID:16774540|PMID:16784312|PMID:16792967|PMID:16965330|PMID:17101293|PMID:17118990|PMID:17189144|PMID:17220063|PMID:17289071|PMID:17539912|PMID:17576681|PMID:17675238|PMID:18200029|PMID:18248641|PMID:18264745|PMID:18274776|PMID:18320920|PMID:1836330|PMID:18399903|PMID:18414213|PMID:18414681|PMID:18426830|PMID:18616706|PMID:18682433|PMID:18708298|PMID:18713028|PMID:18728167|PMID:19037923|PMID:19209622|PMID:19246027|PMID:19265170|PMID:19322061|PMID:19758376|PMID:19807739|PMID:19863576|PMID:20140861|PMID:20185822|PMID:20407228|PMID:20453472|PMID:20718774|PMID:21070315|PMID:21295522|PMID:21505073|PMID:21508664|PMID:21724609|PMID:21865375|PMID:21932610|PMID:22024611|PMID:22104652|PMID:22162465|PMID:23000069|PMID:23074189|PMID:23133448|PMID:23320549|PMID:23342054|PMID:23620608|PMID:23643663|PMID:24014553|PMID:24033266|PMID:24158785|PMID:24703644|PMID:24948345|PMID:25064028|PMID:25068407|PMID:25361846|PMID:25367057|PMID:25402387|PMID:25707324|PMID:25741868|PMID:26084028|PMID:26114819|PMID:26141571|PMID:26467025|PMID:26650942|PMID:26915675|PMID:27048654|PMID:27105486|PMID:27253668|PMID:27266815|PMID:27504588|PMID:27588307|PMID:27646917|PMID:27884173|PMID:28323927|PMID:28446514|PMID:28472507|PMID:28492532|PMID:28567288|PMID:28911151|PMID:28919897|PMID:29129473|PMID:29335648|PMID:2943776|PMID:29437776|PMID:29666621|PMID:30003128|PMID:30287219|PMID:30290665|PMID:30863741|PMID:31420020|PMID:31433868|PMID:31588815|PMID:31874111|PMID:32373116|PMID:32441320|PMID:32531373|PMID:32627016|PMID:32767280|PMID:33225392|PMID:33352647|PMID:33468135|PMID:33574239|PMID:33599910|PMID:34008892|PMID:34573280|PMID:35521792|PMID:6031738|PMID:9398839|PMID:9398840|PMID:9536098|PMID:9717837|PMID:9837820|PMID:9856486|PMID:9888391|PMID:9921903 11699221 AIRE autoimmune regulator gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1322440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11699221 AIRE autoimmune regulator gene DOID:0110266 cataract 9 multiple types ISO RGD:1322440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11699221 AIRE autoimmune regulator gene DOID:12842 Guillain-Barre syndrome ISO RGD:1322441 D RGD:9068941 20220825 MouseDO OMIM:139393 11699221 AIRE autoimmune regulator gene DOID:12849 autistic disorder ISO RGD:1322440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11699221 AIRE autoimmune regulator gene DOID:12894 Sjogren's syndrome ISO RGD:1322441 D RGD:9068941 20220825 MouseDO OMIM:270150 11699221 AIRE autoimmune regulator gene DOID:14040 autoimmune polyendocrine syndrome ISO RGD:1311139 D RGD:9068941 20200910 RGD PMID:29959280|REF_RGD_ID:38599145 11699221 AIRE autoimmune regulator gene DOID:14040 autoimmune polyendocrine syndrome ISO RGD:1322440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16982213 11699221 AIRE autoimmune regulator gene DOID:14040 autoimmune polyendocrine syndrome susceptibility ISO RGD:1322440 D RGD:9068941 20200609 RGD PMID:9921903|REF_RGD_ID:1599008 11699221 AIRE autoimmune regulator gene DOID:1508 candidiasis ISO RGD:1322440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12050215 11699221 AIRE autoimmune regulator gene DOID:612 primary immunodeficiency disease ISO RGD:1322440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:16965330|PMID:19758376|PMID:25741868|PMID:28446514|PMID:28492532|PMID:28911151 11699221 AIRE autoimmune regulator gene DOID:630 genetic disease ISO RGD:1322440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11699221 AIRE autoimmune regulator gene DOID:891 progressive myoclonus epilepsy ISO RGD:1322440 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11699221 AIRE autoimmune regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11699221 AIRE autoimmune regulator gene DOID:9004464 Skin Neoplasms ISO RGD:1322440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26168014 11699221 AIRE autoimmune regulator gene DOID:9005643 Experimental Diabetes Mellitus susceptibility ISO RGD:1322441 D RGD:9068941 20200609 RGD PMID:18399912|REF_RGD_ID:2306853 11699221 AIRE autoimmune regulator gene DOID:9263 homocystinuria ISO RGD:1322440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11699221 AIRE autoimmune regulator gene DOID:9562 primary ciliary dyskinesia ISO RGD:1322440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11699239 SLC15A2 solute carrier family 15 member 2 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:731699 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 11699239 SLC15A2 solute carrier family 15 member 2 gene DOID:1909 melanoma ISO RGD:731699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842228 11699239 SLC15A2 solute carrier family 15 member 2 gene DOID:3910 lung adenocarcinoma ISO RGD:731699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11699239 SLC15A2 solute carrier family 15 member 2 gene DOID:630 genetic disease ISO RGD:731699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699239 SLC15A2 solute carrier family 15 member 2 gene DOID:9006205 Animal Disease Models ISO RGD:731699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11699239 SLC15A2 solute carrier family 15 member 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:731699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 11699239 SLC15A2 solute carrier family 15 member 2 gene DOID:9270 alkaptonuria ISO RGD:731699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11699277 FAM91A1 family with sequence similarity 91 member A1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1605857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11699277 FAM91A1 family with sequence similarity 91 member A1 gene DOID:630 genetic disease ISO RGD:1605857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699305 IFT20 intraflagellar transport 20 gene DOID:630 genetic disease ISO RGD:1605017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699319 CSTA cystatin A gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1320029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:11807402|PMID:20798521|PMID:28492532 11699319 CSTA cystatin A gene DOID:3068 glioblastoma ISO RGD:1320029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22287159 11699319 CSTA cystatin A gene DOID:630 genetic disease ISO RGD:1320029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699319 CSTA cystatin A gene DOID:9000918 Disease Progression ISO RGD:1320029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20461718|PMID:22287159 11699319 CSTA cystatin A gene DOID:9000965 Neoplasm Metastasis ISO RGD:1320029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20461718 11699319 CSTA cystatin A gene DOID:9007796 Peeling Skin Syndrome 4 ISO RGD:1320029 D RGD:7240710 20180130 OMIM 11699319 CSTA cystatin A gene DOID:9007796 Peeling Skin Syndrome 4 ISO RGD:1320029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peeling skin syndrome 4 PMID:12890214|PMID:21944047|PMID:22066523|PMID:23534700|PMID:25400170 11699319 CSTA cystatin A gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1320029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 11699319 CSTA cystatin A gene DOID:9270 alkaptonuria ISO RGD:1320029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11699327 INTS9 integrator complex subunit 9 gene DOID:630 genetic disease ISO RGD:1603989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699354 CDHR4 cadherin related family member 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 11699354 CDHR4 cadherin related family member 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 11699354 CDHR4 cadherin related family member 4 gene DOID:630 genetic disease ISO RGD:1605792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699354 CDHR4 cadherin related family member 4 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1605792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11699378 NYAP1 neuronal tyrosine phosphorylated phosphoinositide-3-kinase adaptor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11699378 NYAP1 neuronal tyrosine phosphorylated phosphoinositide-3-kinase adaptor 1 gene DOID:630 genetic disease ISO RGD:1602420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699396 CDHR3 cadherin related family member 3 gene DOID:0080600 COVID-19 ISO RGD:1603532 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11699396 CDHR3 cadherin related family member 3 gene DOID:10754 otitis media ISO RGD:1603532 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to nonsyndromic otitis media 11699396 CDHR3 cadherin related family member 3 gene DOID:2841 asthma ISO RGD:1603532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24241537 11699396 CDHR3 cadherin related family member 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11699396 CDHR3 cadherin related family member 3 gene DOID:630 genetic disease ISO RGD:1603532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699421 RSPH3 radial spoke head 3 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1322691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 11699421 RSPH3 radial spoke head 3 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1322691 D RGD:7240710 20180130 OMIM 11699421 RSPH3 radial spoke head 3 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1322691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:16199547|PMID:17576681|PMID:25741868|PMID:26073779|PMID:28492532|PMID:9536098 11699421 RSPH3 radial spoke head 3 gene DOID:630 genetic disease ISO RGD:1322691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11699421 RSPH3 radial spoke head 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1322691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 11699449 PRAM1 PML-RARA regulated adaptor molecule 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1604582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 11699449 PRAM1 PML-RARA regulated adaptor molecule 1 gene DOID:12849 autistic disorder ISO RGD:1604582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11699449 PRAM1 PML-RARA regulated adaptor molecule 1 gene DOID:630 genetic disease ISO RGD:1604582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699466 GYPA glycophorin A (MNS blood group) gene DOID:12365 malaria ISO RGD:1342753 D RGD:7240710 20230505 OMIM 11699466 GYPA glycophorin A (MNS blood group) gene DOID:630 genetic disease ISO RGD:1342753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699466 GYPA glycophorin A (MNS blood group) gene DOID:9004464 Skin Neoplasms ISO RGD:1342753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17029826 11699519 FADS6 fatty acid desaturase 6 gene DOID:630 genetic disease ISO RGD:1351054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699529 USP48 ubiquitin specific peptidase 48 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1351270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11699529 USP48 ubiquitin specific peptidase 48 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1351270 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11699529 USP48 ubiquitin specific peptidase 48 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1351270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11699529 USP48 ubiquitin specific peptidase 48 gene DOID:10283 prostate cancer ISO RGD:1351270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11699529 USP48 ubiquitin specific peptidase 48 gene DOID:630 genetic disease ISO RGD:1351270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699529 USP48 ubiquitin specific peptidase 48 gene DOID:670 amphetamine abuse ISO RGD:1351270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11699529 USP48 ubiquitin specific peptidase 48 gene DOID:9002609 Autosomal Dominant Nonsyndromic Deafness 85 ISO RGD:1351270 D RGD:7240710 20230215 OMIM 11699529 USP48 ubiquitin specific peptidase 48 gene DOID:9002609 Autosomal Dominant Nonsyndromic Deafness 85 ISO RGD:1351270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 85 PMID:25741868|PMID:34059922 11699529 USP48 ubiquitin specific peptidase 48 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1351270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11699529 USP48 ubiquitin specific peptidase 48 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 11699569 ANO3 anoctamin 3 gene DOID:0090052 dystonia 24 ISO RGD:1318896 D RGD:7240710 20180130 OMIM 11699569 ANO3 anoctamin 3 gene DOID:0090052 dystonia 24 ISO RGD:1318896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia 24 PMID:11009204|PMID:23200863|PMID:25741868|PMID:27666935|PMID:28492532|PMID:33388357 11699569 ANO3 anoctamin 3 gene DOID:1059 intellectual disability ISO RGD:1318896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11699569 ANO3 anoctamin 3 gene DOID:543 dystonia ISO RGD:1318896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:16199547|PMID:17576681|PMID:25741868|PMID:27666935|PMID:28492532|PMID:29449182|PMID:30502610|PMID:31053532|PMID:9536098 11699569 ANO3 anoctamin 3 gene DOID:630 genetic disease ISO RGD:1318896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11699569 ANO3 anoctamin 3 gene DOID:9002211 Hyperalgesia ISO RGD:1308873 D RGD:9068941 20200609 RGD PMID:23872594|REF_RGD_ID:9681745 11699569 ANO3 anoctamin 3 gene DOID:9007956 Febrile Seizures ISO RGD:1318896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25344690 11699600 MMRN2 multimerin 2 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1322933 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:11536076|PMID:12417513|PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 11699600 MMRN2 multimerin 2 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1322933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 11699600 MMRN2 multimerin 2 gene DOID:630 genetic disease ISO RGD:1322933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699611 TAF1B TATA-box binding protein associated factor, RNA polymerase I subunit B gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1314966 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 11699611 TAF1B TATA-box binding protein associated factor, RNA polymerase I subunit B gene DOID:3883 Lynch syndrome ISO RGD:1314966 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 11699611 TAF1B TATA-box binding protein associated factor, RNA polymerase I subunit B gene DOID:630 genetic disease ISO RGD:1314966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699630 ZNF713 zinc finger protein 713 gene DOID:12849 autistic disorder ISO RGD:1605220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11699630 ZNF713 zinc finger protein 713 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11699630 ZNF713 zinc finger protein 713 gene DOID:630 genetic disease ISO RGD:1605220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699648 VBP1 VHL binding protein 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1352433 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11699648 VBP1 VHL binding protein 1 gene DOID:0050476 Barth syndrome ISO RGD:1352433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11699648 VBP1 VHL binding protein 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:1352433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11699648 VBP1 VHL binding protein 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1352433 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11699648 VBP1 VHL binding protein 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1352433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11699648 VBP1 VHL binding protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1352433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11699648 VBP1 VHL binding protein 1 gene DOID:12849 autistic disorder ISO RGD:1352433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11699648 VBP1 VHL binding protein 1 gene DOID:13628 favism ISO RGD:1352433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11699648 VBP1 VHL binding protein 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1352433 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11699648 VBP1 VHL binding protein 1 gene DOID:3070 high grade glioma ISO RGD:1352433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11699648 VBP1 VHL binding protein 1 gene DOID:607 paraplegia ISO RGD:1352433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11699648 VBP1 VHL binding protein 1 gene DOID:630 genetic disease ISO RGD:1352433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699648 VBP1 VHL binding protein 1 gene DOID:9002720 Splenomegaly ISO RGD:1352433 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11699662 RAB11FIP3 RAB11 family interacting protein 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1353989 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11699662 RAB11FIP3 RAB11 family interacting protein 3 gene DOID:1826 epilepsy ISO RGD:1353989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 11699662 RAB11FIP3 RAB11 family interacting protein 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1353989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11699662 RAB11FIP3 RAB11 family interacting protein 3 gene DOID:630 genetic disease ISO RGD:1353989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699670 BUB3 BUB3 mitotic checkpoint protein gene DOID:630 genetic disease ISO RGD:1315390 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11699670 BUB3 BUB3 mitotic checkpoint protein gene DOID:9002644 Premature Aging ISO RGD:1315391 D RGD:9068941 20200609 RGD PMID:16476774|REF_RGD_ID:10059413 11699685 SLC8B1 solute carrier family 8 member B1 gene DOID:630 genetic disease ISO RGD:1349643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699685 SLC8B1 solute carrier family 8 member B1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1565818 D RGD:9068941 20200609 RGD PMID:23564126|REF_RGD_ID:9685494 11699708 WDSUB1 WD repeat, sterile alpha motif and U-box domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1346298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 11699708 WDSUB1 WD repeat, sterile alpha motif and U-box domain containing 1 gene DOID:630 genetic disease ISO RGD:1346298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699731 ACSM4 acyl-CoA synthetase medium chain family member 4 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1642901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11699731 ACSM4 acyl-CoA synthetase medium chain family member 4 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1642901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11699731 ACSM4 acyl-CoA synthetase medium chain family member 4 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1642901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11699731 ACSM4 acyl-CoA synthetase medium chain family member 4 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1642901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11699731 ACSM4 acyl-CoA synthetase medium chain family member 4 gene DOID:0111621 Temtamy syndrome ISO RGD:1642901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11699731 ACSM4 acyl-CoA synthetase medium chain family member 4 gene DOID:630 genetic disease ISO RGD:1642901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699731 ACSM4 acyl-CoA synthetase medium chain family member 4 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1642901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11699747 PENK proenkephalin gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:68998 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 11699747 PENK proenkephalin gene DOID:0060564 spinal disease ISO RGD:68946 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus: PMID:11501038|REF_RGD_ID:10003114 11699747 PENK proenkephalin gene DOID:0070355 overactive bladder syndrome treatment ISO RGD:68998 D RGD:9068941 20200609 RGD PMID:23316929|REF_RGD_ID:10003040 11699747 PENK proenkephalin gene DOID:14330 Parkinson's disease ISO RGD:68946 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum: PMID:11501038|REF_RGD_ID:10003114 11699747 PENK proenkephalin gene DOID:1574 alcohol use disorder ISO RGD:68946 D RGD:9068941 20200609 RGD mRNA:increased expression:frontal lobe: PMID:22703995|REF_RGD_ID:10003152 11699747 PENK proenkephalin gene DOID:2559 opiate dependence ISO RGD:68998 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10321497 11699747 PENK proenkephalin gene DOID:543 dystonia ISO RGD:68946 D RGD:9068941 20200609 RGD mRNA:decreased expression:striatum: PMID:22595488|REF_RGD_ID:10003100 11699747 PENK proenkephalin gene DOID:630 genetic disease ISO RGD:68998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699747 PENK proenkephalin gene DOID:863 nervous system disease ISO RGD:68998 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12030189 11699747 PENK proenkephalin gene DOID:8986 narcolepsy ISO RGD:68998 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17521418 11699747 PENK proenkephalin gene DOID:9000641 Pain ISO RGD:68998 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15833551 11699747 PENK proenkephalin gene DOID:9002211 Hyperalgesia treatment ISO RGD:68998 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; PMID:23235561|REF_RGD_ID:10003116 11699747 PENK proenkephalin gene DOID:9002304 Prostatic Neoplasms ISO RGD:68998 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 11699747 PENK proenkephalin gene DOID:9002331 Knee Osteoarthritis treatment ISO RGD:68946 D RGD:9068941 20200609 RGD PMID:21928671|REF_RGD_ID:10003115 11699747 PENK proenkephalin gene DOID:9002916 Hyperphagia ISO RGD:68946 D RGD:9068941 20200609 RGD PMID:20603139|REF_RGD_ID:10003144 11699747 PENK proenkephalin gene DOID:9006604 Anhedonia ISO RGD:68946 D RGD:9068941 20200609 RGD PMID:24090157|REF_RGD_ID:10003087 11699747 PENK proenkephalin gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:68946 D RGD:9068941 20200609 RGD PMID:21247719|REF_RGD_ID:10003103 11699747 PENK proenkephalin gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:68946 D RGD:9068941 20200609 RGD mRNA:increased expression:brain:striatum: PMID:20456008|REF_RGD_ID:10003039 11699747 PENK proenkephalin gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:68998 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9767399 11699747 PENK proenkephalin gene DOID:9008820 Visceral Pain treatment ISO RGD:68998 D RGD:9068941 20200609 RGD PMID:23316929|REF_RGD_ID:10003040 11699747 PENK proenkephalin gene DOID:9976 heroin dependence ISO RGD:68946 D RGD:9068941 20200609 RGD PMID:22683090|REF_RGD_ID:10003025 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:0050873 follicular lymphoma ISO RGD:1351803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1351803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:1615155 D RGD:9068941 20220128 RGD PMID:27253414|REF_RGD_ID:151347600 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:0080600 COVID-19 ISO RGD:1351803 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1351803 D RGD:7240710 20190315 OMIM 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1351803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like | ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like 1 PMID:24728327|PMID:25741868|PMID:26642243|PMID:28492532|PMID:29241730|PMID:30810840|PMID:31625129|PMID:32666380 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:12894 Sjogren's syndrome ISO RGD:1351803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097066|PMID:24097067 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:1612 breast cancer ameliorates ISO RGD:1351803 D RGD:9068941 20220128 RGD associated with Neoplasm Metastasis; human cells in mouse model PMID:28892081|REF_RGD_ID:151347436 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:219 colon cancer ISO RGD:1351803 D RGD:9068941 20220128 RGD protein:decreased expression:colon (human) PMID:27991929|REF_RGD_ID:151347529 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:219 colon cancer ISO RGD:1351803 D RGD:9068941 20220204 RGD mRNA,protein:increased expression:colon (human) PMID:24099634|REF_RGD_ID:151347624 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:219 colon cancer treatment ISO RGD:1615155 D RGD:9068941 20220128 RGD associated with Experimental Colitis PMID:27991929|REF_RGD_ID:151347529 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:2377 multiple sclerosis ISO RGD:1351803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24076602 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1351803 D RGD:9068941 20220128 RGD mRNA,protein:increased expression:esophagus squamous epithelium (human) PMID:28197630|REF_RGD_ID:151347617 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:417 autoimmune disease ISO RGD:1351803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24453940 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:4947 cholangiocarcinoma severity ISO RGD:1351803 D RGD:9068941 20220128 RGD protein:increased expression:bile duct (human) PMID:26485275|REF_RGD_ID:11250478 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:5041 esophageal cancer disease_progression ISO RGD:1351803 D RGD:9068941 20220128 RGD DNA:SNP:intron 6: (rs610604) (human) PMID:25354935|REF_RGD_ID:151347597 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:5041 esophageal cancer severity ISO RGD:1351803 D RGD:9068941 20220128 RGD DNA:SNP:3'utr: (rs583522) (human) PMID:26598072|REF_RGD_ID:11075880 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:5517 stomach carcinoma ISO RGD:1351803 D RGD:9068941 20220128 RGD mRNA,protein:increased expression:stomach (human) PMID:31153693|REF_RGD_ID:151347607 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:630 genetic disease ISO RGD:1351803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1351803 D RGD:9068941 20220128 RGD mRNA:decreased expression:liver (human) PMID:29190981|REF_RGD_ID:151347622 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1351803 D RGD:9068941 20220128 RGD protein:decreased expression:liver (human) PMID:32015333|REF_RGD_ID:151347604 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1351803 D RGD:9068941 20220128 RGD mRNA,protein:increased expression:liver (human) PMID:26538215|REF_RGD_ID:151347618 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:684 hepatocellular carcinoma sexual_dimorphism ISO RGD:1615155 D RGD:9068941 20220128 RGD PMID:27253414|REF_RGD_ID:151347600 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1351803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18794853|PMID:20453842|PMID:21841782|PMID:23143596|PMID:30224649 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:8577 ulcerative colitis severity ISO RGD:1351803 D RGD:9068941 20220128 RGD mRNA,protein:increased expression, decreased expression:colonic mucosa (human) PMID:28842689|REF_RGD_ID:151347619 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:8893 psoriasis ISO RGD:1351803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19169254|PMID:20953190 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1351803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection PMID:26642243|PMID:28492532|PMID:29572183|PMID:8960473|PMID:9806040 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:9005372 Inflammation ISO RGD:1351803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24453940 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:9006364 Hereditary Autoinflammatory Diseases ISO RGD:1351803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26642243 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1351803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1351803 D RGD:9068941 20220128 RGD DNA:SNP,haplotypes: (rs148314165, rs200820567) (human) PMID:28784141|REF_RGD_ID:151347613 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:9074 systemic lupus erythematosus ISO RGD:1351803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19165918|PMID:19165919|PMID:19838193|PMID:21336280 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:9256 colorectal cancer severity ISO RGD:1351803 D RGD:9068941 20220128 RGD DNA:SNP:3'utr: (rs6920220) (human) PMID:22843550|REF_RGD_ID:151347611 11699755 TNFAIP3 TNF alpha induced protein 3 gene DOID:9261 nasopharynx carcinoma treatment ISO RGD:1351803 D RGD:9068941 20220128 RGD PMID:26149137|REF_RGD_ID:151347434 11699820 MMP28 matrix metallopeptidase 28 gene DOID:630 genetic disease ISO RGD:1323102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699836 MRPL16 mitochondrial ribosomal protein L16 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1354403 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11699836 MRPL16 mitochondrial ribosomal protein L16 gene DOID:1059 intellectual disability ISO RGD:1354403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11699836 MRPL16 mitochondrial ribosomal protein L16 gene DOID:630 genetic disease ISO RGD:1354403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699844 C20H20orf96 chromosome 20 C20orf96 homolog gene DOID:630 genetic disease ISO RGD:1346131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699844 C20H20orf96 chromosome 20 C20orf96 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11699863 STX3 syntaxin 3 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:732917 D RGD:9068941 20200609 RGD PMID:26216965|REF_RGD_ID:11532386 11699863 STX3 syntaxin 3 gene DOID:0110139 Bardet-Biedl syndrome 17 ISO RGD:732917 D RGD:9068941 20200609 RGD protein:increased expression:photoreceptor outer segment layer PMID:26216965|REF_RGD_ID:11532386 11699863 STX3 syntaxin 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:735349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11699863 STX3 syntaxin 3 gene DOID:1059 intellectual disability ISO RGD:735349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11699863 STX3 syntaxin 3 gene DOID:630 genetic disease ISO RGD:735349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11699863 STX3 syntaxin 3 gene DOID:9006044 Microvillus Inclusion Disease 2 ISO RGD:735349 D RGD:7240710 20210728 OMIM 11699863 STX3 syntaxin 3 gene DOID:9006044 Microvillus Inclusion Disease 2 ISO RGD:735349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diarrhea 12, with microvillus atrophy PMID:24726755|PMID:28492532|PMID:29282386 11699863 STX3 syntaxin 3 gene DOID:9008564 Retinal Dystrophy and Microvillus Inclusion Disease ISO RGD:735349 D RGD:7240710 20210728 OMIM 11699863 STX3 syntaxin 3 gene DOID:9008564 Retinal Dystrophy and Microvillus Inclusion Disease ISO RGD:735349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE 11699895 RPL7 ribosomal protein L7 gene DOID:630 genetic disease ISO RGD:1350931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699912 STX6 syntaxin 6 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:731983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 11699912 STX6 syntaxin 6 gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:731983 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23516525 11699912 STX6 syntaxin 6 gene DOID:1540 parathyroid carcinoma ISO RGD:731983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11699912 STX6 syntaxin 6 gene DOID:630 genetic disease ISO RGD:731983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699912 STX6 syntaxin 6 gene DOID:678 progressive supranuclear palsy ISO RGD:731983 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21685912 11699912 STX6 syntaxin 6 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:731983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11699912 STX6 syntaxin 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11699928 GLRX3 glutaredoxin 3 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:69462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11699928 GLRX3 glutaredoxin 3 gene DOID:12859 choreatic disease ISO RGD:69462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal dyskinesia PMID:32581362 11699928 GLRX3 glutaredoxin 3 gene DOID:630 genetic disease ISO RGD:69462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699928 GLRX3 glutaredoxin 3 gene DOID:9003936 Cardiomegaly ISO RGD:69462 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16809552 11699943 IL1RAPL2 interleukin 1 receptor accessory protein like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11699943 IL1RAPL2 interleukin 1 receptor accessory protein like 2 gene DOID:12849 autistic disorder ISO RGD:1349606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11699943 IL1RAPL2 interleukin 1 receptor accessory protein like 2 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1349606 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:1720927|PMID:9633722|PMID:9634530 11699943 IL1RAPL2 interleukin 1 receptor accessory protein like 2 gene DOID:630 genetic disease ISO RGD:1349606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699958 REC8 REC8 meiotic recombination protein gene DOID:0060439 lysinuric protein intolerance ISO RGD:1319692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11699958 REC8 REC8 meiotic recombination protein gene DOID:0070168 spermatogenic failure 3 ISO RGD:1319692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:31479588 11699958 REC8 REC8 meiotic recombination protein gene DOID:14227 azoospermia ISO RGD:1319692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 11699958 REC8 REC8 meiotic recombination protein gene DOID:1909 melanoma ISO RGD:1319692 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 11699958 REC8 REC8 meiotic recombination protein gene DOID:5426 primary ovarian insufficiency ISO RGD:1319692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure | ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 11699958 REC8 REC8 meiotic recombination protein gene DOID:630 genetic disease ISO RGD:1319692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11699958 REC8 REC8 meiotic recombination protein gene DOID:9000265 Specific Granule Deficiency ISO RGD:1319692 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11699958 REC8 REC8 meiotic recombination protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319692 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11699958 REC8 REC8 meiotic recombination protein gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319692 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11699999 ANO6 anoctamin 6 gene DOID:0050589 inflammatory bowel disease ISO RGD:1312398 D RGD:9068941 20200609 RGD associated with Spondylitis, Ankylosing;DNA:SNP: :rs17095830(human) PMID:23308121|REF_RGD_ID:9684849 11699999 ANO6 anoctamin 6 gene DOID:0111052 Scott syndrome ISO RGD:1312398 D RGD:7240710 20180130 OMIM 11699999 ANO6 anoctamin 6 gene DOID:0111052 Scott syndrome ISO RGD:1312398 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SCOTT SYNDROME PMID:16199547|PMID:21107324|PMID:21511967|PMID:25741868|PMID:27879994|PMID:28492532|PMID:7989579 11699999 ANO6 anoctamin 6 gene DOID:630 genetic disease ISO RGD:1312398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11699999 ANO6 anoctamin 6 gene DOID:7147 ankylosing spondylitis ISO RGD:1312398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138694 11699999 ANO6 anoctamin 6 gene DOID:7147 ankylosing spondylitis severity ISO RGD:1312398 D RGD:9068941 20200609 RGD DNA:SNP: :rs17095830(human) PMID:23308121|REF_RGD_ID:9684849 11699999 ANO6 anoctamin 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11700035 KCNH8 potassium voltage-gated channel subfamily H member 8 gene DOID:0060417 3p deletion syndrome ISO RGD:1352658 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 11700035 KCNH8 potassium voltage-gated channel subfamily H member 8 gene DOID:0111444 progressive myoclonus epilepsy 4 ISO RGD:1352658 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome PMID:25741868 11700035 KCNH8 potassium voltage-gated channel subfamily H member 8 gene DOID:630 genetic disease ISO RGD:1352658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11700056 SAMD1 sterile alpha motif domain containing 1 gene DOID:630 genetic disease ISO RGD:1343473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11700064 ZBTB37 zinc finger and BTB domain containing 37 gene DOID:1540 parathyroid carcinoma ISO RGD:1352612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11700064 ZBTB37 zinc finger and BTB domain containing 37 gene DOID:3755 antithrombin III deficiency ISO RGD:1352612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 11700064 ZBTB37 zinc finger and BTB domain containing 37 gene DOID:630 genetic disease ISO RGD:1352612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11700064 ZBTB37 zinc finger and BTB domain containing 37 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1352612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 11700064 ZBTB37 zinc finger and BTB domain containing 37 gene DOID:869 cholesteatoma ISO RGD:1352612 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cholesteatoma 11700064 ZBTB37 zinc finger and BTB domain containing 37 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1352612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 11700064 ZBTB37 zinc finger and BTB domain containing 37 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11700079 SMAGP small cell adhesion glycoprotein gene DOID:630 genetic disease ISO RGD:1607014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11700093 KCNMB4 potassium calcium-activated channel subfamily M regulatory beta subunit 4 gene DOID:630 genetic disease ISO RGD:1343155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11700100 NPAS3 neuronal PAS domain protein 3 gene DOID:5419 schizophrenia ISO RGD:1316218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11700100 NPAS3 neuronal PAS domain protein 3 gene DOID:630 genetic disease ISO RGD:1316218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11700100 NPAS3 neuronal PAS domain protein 3 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1316218 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11700122 FANCA FA complementation group A gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1322810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 11700122 FANCA FA complementation group A gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1322810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11700122 FANCA FA complementation group A gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1322810 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11700122 FANCA FA complementation group A gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1322810 D RGD:7240710 20181219 OMIM 11700122 FANCA FA complementation group A gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1322810 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:08896563|PMID:08896564|PMID:09371798|PMID:09399890|PMID:09721219|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12827451|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:19109555|PMID:19139070|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:20301575|PMID:20435624|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:2339692|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28104920|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28873162|PMID:28973083|PMID:29093742|PMID:29098742|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30792206|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31248416|PMID:31259830|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31721781|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32947577|PMID:33088445|PMID:33172906|PMID:33224012|PMID:33679882|PMID:33686268|PMID:33718801|PMID:34008892|PMID:34130653|PMID:34250406|PMID:34422195|PMID:34512202|PMID:34585473|PMID:34864095|PMID:34906502|PMID:8896563|PMID:8896564|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9929978 11700122 FANCA FA complementation group A gene DOID:10283 prostate cancer ISO RGD:1322810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:10094191|PMID:24728327|PMID:25741868|PMID:26181256|PMID:28492532|PMID:28864460 11700122 FANCA FA complementation group A gene DOID:10907 microcephaly ISO RGD:1322810 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:26689913|PMID:28202063|PMID:28492532|PMID:30032139 11700122 FANCA FA complementation group A gene DOID:11054 urinary bladder cancer ISO RGD:1322810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121791 11700122 FANCA FA complementation group A gene DOID:11054 urinary bladder cancer ISO RGD:1322810 D RGD:9068941 20200609 RGD PMID:19237606|REF_RGD_ID:11344902 11700122 FANCA FA complementation group A gene DOID:13636 Fanconi anemia ISO RGD:1322810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:24704046|PMID:2472832|PMID:24728327|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28973083|PMID:29093742|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29797310|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30792206|PMID:31192125|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31721781|PMID:32098966|PMID:33172906|PMID:33224012|PMID:33686268|PMID:33718801|PMID:34008892|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978 11700122 FANCA FA complementation group A gene DOID:13636 Fanconi anemia ISO RGD:1322810 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25741868|PMID:25751062|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:29093742|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29797310|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30792206|PMID:31192125|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31721781|PMID:32098966|PMID:33172906|PMID:33224012|PMID:33686268|PMID:33718801|PMID:34008892|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978 11700122 FANCA FA complementation group A gene DOID:13636 Fanconi anemia ISO RGD:1322810 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25741868|PMID:25751062|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:27997549|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:29093742|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29797310|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30792206|PMID:31030435|PMID:31192125|PMID:31259830|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31721781|PMID:32098966|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32850347|PMID:32947577|PMID:33172906|PMID:33224012|PMID:33679882|PMID:33686268|PMID:33718801|PMID:34008892|PMID:34130653|PMID:34250406|PMID:34422195|PMID:34512202|PMID:34585473|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978 11700122 FANCA FA complementation group A gene DOID:13636 Fanconi anemia ISO RGD:1322810 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25741868|PMID:25751062|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:27997549|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:29093742|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29797310|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30792206|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31259830|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31721781|PMID:32098966|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32850347|PMID:32947577|PMID:33172906|PMID:33224012|PMID:33679882|PMID:33686268|PMID:33718801|PMID:34008892|PMID:34130653|PMID:34250406|PMID:34422195|PMID:34512202|PMID:34585473|PMID:34864095|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978 11700122 FANCA FA complementation group A gene DOID:13636 Fanconi anemia ISO RGD:1322810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:27733357|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30792206|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31248416|PMID:31259830|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31721781|PMID:32098966|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32850347|PMID:32947577|PMID:33088445|PMID:33172906|PMID:33224012|PMID:33482836|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33883933|PMID:34008892|PMID:34130653|PMID:34250406|PMID:34422195|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34864095|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978 11700122 FANCA FA complementation group A gene DOID:13636 Fanconi anemia ISO RGD:1322810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:27733357|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29702541|PMID:29779353|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30792206|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31248416|PMID:31259830|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31721781|PMID:32098966|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32850347|PMID:32947577|PMID:33088445|PMID:33172906|PMID:33224012|PMID:33482836|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33883933|PMID:34008892|PMID:34130653|PMID:34250406|PMID:34422195|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34864095|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978 11700122 FANCA FA complementation group A gene DOID:13636 Fanconi anemia ISO RGD:1322810 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:27733357|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28104920|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29702541|PMID:29779353|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30792206|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31248416|PMID:31259830|PMID:31395037|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31721781|PMID:32098966|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32850347|PMID:32947577|PMID:33088445|PMID:33172906|PMID:33224012|PMID:33482836|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33883933|PMID:34008892|PMID:34130653|PMID:34250406|PMID:34422195|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34864095|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978 11700122 FANCA FA complementation group A gene DOID:13636 Fanconi anemia disease_progression ISO RGD:1322810 D RGD:9068941 20200609 RGD DNA:deletion PMID:11110674|REF_RGD_ID:11344914 11700122 FANCA FA complementation group A gene DOID:14780 KBG syndrome ISO RGD:1322810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 11700122 FANCA FA complementation group A gene DOID:1612 breast cancer ISO RGD:1322810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:24728327|PMID:25741868|PMID:28492532 11700122 FANCA FA complementation group A gene DOID:1793 pancreatic cancer ISO RGD:1322810 D RGD:9068941 20200609 RGD DNA,Protein:polymorphisms:exons:c.377C>G, c.661A>G (human) PMID:15591268|REF_RGD_ID:2317735 11700122 FANCA FA complementation group A gene DOID:2018 hyperinsulinism ISO RGD:1322810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22482891 11700122 FANCA FA complementation group A gene DOID:2394 ovarian cancer ISO RGD:1322810 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:26467025|PMID:28202063|PMID:28492532|PMID:30032139|PMID:9371798 11700122 FANCA FA complementation group A gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1322810 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.S858R (human) PMID:21279724|REF_RGD_ID:11344913 11700122 FANCA FA complementation group A gene DOID:4362 cervical cancer ISO RGD:1322810 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :[rs2239359, rs7190823, rs7195066 (human) PMID:19012493|REF_RGD_ID:11344886 11700122 FANCA FA complementation group A gene DOID:4362 cervical cancer no_association ISO RGD:1322810 D RGD:9068941 20200609 RGD DNA:SNP: :rs11649196 (human) PMID:21543111|REF_RGD_ID:11344901 11700122 FANCA FA complementation group A gene DOID:5223 infertility ISO RGD:1322811 D RGD:9068941 20200609 RGD associated with Hypogonadism PMID:10915769|REF_RGD_ID:11344895 11700122 FANCA FA complementation group A gene DOID:5426 primary ovarian insufficiency ISO RGD:1322810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868|PMID:28492532|PMID:28687356|PMID:28767289 11700122 FANCA FA complementation group A gene DOID:630 genetic disease ISO RGD:1322810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30792206 11700122 FANCA FA complementation group A gene DOID:6846 familial melanoma ISO RGD:1322810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:28492532 11700122 FANCA FA complementation group A gene DOID:687 hepatoblastoma ISO RGD:1322810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:24728327|PMID:25741868|PMID:28492532 11700122 FANCA FA complementation group A gene DOID:769 neuroblastoma ISO RGD:1322810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:15059067|PMID:17576681|PMID:24584348|PMID:27041517|PMID:28060124|PMID:28492532|PMID:29098742|PMID:9536098 11700122 FANCA FA complementation group A gene DOID:8923 skin melanoma disease_progression ISO RGD:1322810 D RGD:9068941 20200609 RGD DNA:SNP: :rs62068372 (human) PMID:25243787|REF_RGD_ID:11344896 11700122 FANCA FA complementation group A gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1322810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11700122 FANCA FA complementation group A gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1322810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:10521298|PMID:12444097|PMID:25741868 11700122 FANCA FA complementation group A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11700122 FANCA FA complementation group A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17924555|PMID:19367192|PMID:25741868|PMID:28492532 11700122 FANCA FA complementation group A gene DOID:9007692 Insulin Resistance ISO RGD:1322811 D RGD:9068941 20200609 RGD PMID:22482891|REF_RGD_ID:11046266 11700122 FANCA FA complementation group A gene DOID:9119 acute myeloid leukemia ISO RGD:1322810 D RGD:9068941 20200609 RGD DNA, mRNA:deletions, decreased expression: :multiple PMID:14749703|REF_RGD_ID:11344889 11700122 FANCA FA complementation group A gene DOID:9970 obesity ISO RGD:1322811 D RGD:9068941 20200609 RGD PMID:22482891|REF_RGD_ID:11046266 11700175 ARL5B ADP ribosylation factor like GTPase 5B gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1313675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11700175 ARL5B ADP ribosylation factor like GTPase 5B gene DOID:0080600 COVID-19 ISO RGD:1313675 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11700175 ARL5B ADP ribosylation factor like GTPase 5B gene DOID:1909 melanoma ISO RGD:1313675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11700175 ARL5B ADP ribosylation factor like GTPase 5B gene DOID:630 genetic disease ISO RGD:1313675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11700185 VCP valosin containing protein gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:731621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 11700185 VCP valosin containing protein gene DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia ISO RGD:731621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia PMID:15034582|PMID:16247064|PMID:16321991|PMID:16790606|PMID:16984901|PMID:17329348|PMID:17763460|PMID:18341608|PMID:18845250|PMID:19225410|PMID:19237541|PMID:19364651|PMID:19506019|PMID:19704082|PMID:20008565|PMID:20104022|PMID:20512113|PMID:20604808|PMID:20957154|PMID:21145000|PMID:21320982|PMID:21387114|PMID:21822278|PMID:21920633|PMID:21984748|PMID:22078486|PMID:22137929|PMID:22270372|PMID:22686199|PMID:22898872|PMID:22900631|PMID:22909335|PMID:23029473|PMID:23056506|PMID:23169451|PMID:23333620|PMID:23498975|PMID:24196964|PMID:24829604|PMID:25125609|PMID:25326637|PMID:25388089|PMID:25492614|PMID:25617006|PMID:25618255|PMID:25741868|PMID:25775548|PMID:26105173|PMID:26467025|PMID:26549226|PMID:26555887|PMID:27226613|PMID:27538664|PMID:27708273|PMID:27768726|PMID:27790088|PMID:28130640|PMID:28360103|PMID:28492532|PMID:28692196|PMID:29754758|PMID:30005904|PMID:30279455|PMID:30293881|PMID:31687228|PMID:31848255|PMID:33144514|PMID:7182974 11700185 VCP valosin containing protein gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:731621 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant PMID:11438206|PMID:16643430|PMID:24728327|PMID:25741868|PMID:26740942|PMID:28492532 11700185 VCP valosin containing protein gene DOID:0060198 amyotrophic lateral sclerosis type 6 ISO RGD:731621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6 PMID:30103325 11700185 VCP valosin containing protein gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:731621 D RGD:7240710 20180130 OMIM 11700185 VCP valosin containing protein gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:731621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:15034582|PMID:16247064|PMID:16321991|PMID:16790606|PMID:16984901|PMID:17329348|PMID:17576681|PMID:17622780|PMID:17763460|PMID:17889967|PMID:18341608|PMID:18845250|PMID:19208399|PMID:19225410|PMID:19237541|PMID:19364651|PMID:19506019|PMID:19704082|PMID:20008565|PMID:20104022|PMID:20512113|PMID:20604808|PMID:20957154|PMID:21145000|PMID:21249466|PMID:21320982|PMID:21387114|PMID:21816654|PMID:21822278|PMID:21880997|PMID:21920633|PMID:21984748|PMID:22078486|PMID:22137929|PMID:22270372|PMID:22572540|PMID:22686199|PMID:22898872|PMID:22900631|PMID:22909335|PMID:23000505|PMID:23029473|PMID:23056506|PMID:23152587|PMID:23169451|PMID:23333620|PMID:23498975|PMID:23868359|PMID:24123792|PMID:24196964|PMID:24829604|PMID:25125609|PMID:25326637|PMID:25388089|PMID:25492614|PMID:25617006|PMID:25618255|PMID:25741868|PMID:25775548|PMID:25878907|PMID:26105173|PMID:26467025|PMID:26511028|PMID:26549226|PMID:26555887|PMID:26627873|PMID:26809617|PMID:26853221|PMID:27165006|PMID:27226613|PMID:27538664|PMID:27708273|PMID:27768726|PMID:27790088|PMID:28130640|PMID:28360103|PMID:28492532|PMID:28542158|PMID:28692196|PMID:28709720|PMID:29033165|PMID:29127544|PMID:29754758|PMID:30005904|PMID:30103325|PMID:30103957|PMID:30270202|PMID:30279455|PMID:30293881|PMID:30488450|PMID:30955949|PMID:31687228|PMID:31848255|PMID:31914217|PMID:32036797|PMID:32481679|PMID:33144514|PMID:7182974|PMID:9536098 11700185 VCP valosin containing protein gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:731621 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11700185 VCP valosin containing protein gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:731621 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant PMID:11438206|PMID:16643430|PMID:24728327|PMID:25741868|PMID:26740942|PMID:28492532 11700185 VCP valosin containing protein gene DOID:0080942 anauxetic dysplasia ISO RGD:731621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11700185 VCP valosin containing protein gene DOID:0110168 Charcot-Marie-Tooth disease type 2Y ISO RGD:731621 D RGD:7240710 20180130 OMIM 11700185 VCP valosin containing protein gene DOID:0110168 Charcot-Marie-Tooth disease type 2Y ISO RGD:731621 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2Y | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2y PMID:15034582|PMID:19237541|PMID:21145000|PMID:21984748|PMID:22270372|PMID:22900631|PMID:23000505|PMID:23333620|PMID:23498975|PMID:24196964|PMID:25125609|PMID:25741868|PMID:25878907|PMID:26105173|PMID:26467025|PMID:27226613|PMID:27708273|PMID:28360103|PMID:28492532|PMID:28692196|PMID:29127544|PMID:30279455|PMID:32481679 11700185 VCP valosin containing protein gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:731621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11700185 VCP valosin containing protein gene DOID:0111086 Fanconi anemia complementation group G ISO RGD:731621 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group G PMID:11438206|PMID:16643430|PMID:24728327|PMID:25741868|PMID:26740942|PMID:28492532 11700185 VCP valosin containing protein gene DOID:0111385 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 ISO RGD:731621 D RGD:7240710 20190320 OMIM 11700185 VCP valosin containing protein gene DOID:0111385 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 ISO RGD:731621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 1 PMID:15034582|PMID:16247064|PMID:16321991|PMID:16790606|PMID:16984901|PMID:17329348|PMID:17763460|PMID:18341608|PMID:18845250|PMID:19225410|PMID:19237541|PMID:19364651|PMID:19506019|PMID:19704082|PMID:20008565|PMID:20104022|PMID:20512113|PMID:20604808|PMID:20957154|PMID:21145000|PMID:21320982|PMID:21387114|PMID:21822278|PMID:21920633|PMID:21984748|PMID:22078486|PMID:22137929|PMID:22270372|PMID:22686199|PMID:22898872|PMID:22900631|PMID:22909335|PMID:23029473|PMID:23056506|PMID:23169451|PMID:23333620|PMID:23498975|PMID:24196964|PMID:24829604|PMID:25125609|PMID:25326637|PMID:25388089|PMID:25492614|PMID:25617006|PMID:25618255|PMID:25741868|PMID:25775548|PMID:26105173|PMID:26467025|PMID:26549226|PMID:26555887|PMID:27226613|PMID:27538664|PMID:27708273|PMID:27768726|PMID:27790088|PMID:28130640|PMID:28360103|PMID:28492532|PMID:28692196|PMID:30005904|PMID:30279455|PMID:30293881|PMID:31687228|PMID:31848255|PMID:33144514|PMID:7182974 11700185 VCP valosin containing protein gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:731621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11700185 VCP valosin containing protein gene DOID:1059 intellectual disability ISO RGD:731621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21387114|PMID:21920633|PMID:25617006|PMID:25741868|PMID:26467025|PMID:28492532 11700185 VCP valosin containing protein gene DOID:10652 Alzheimer's disease ISO RGD:731621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:30279455 11700185 VCP valosin containing protein gene DOID:12217 Lewy body dementia ISO RGD:731621 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lewy body dementia PMID:28492532 11700185 VCP valosin containing protein gene DOID:1307 dementia ISO RGD:731621 D RGD:9068941 20200609 RGD IBMPFD, OMIM:167320 PMID:15034582|REF_RGD_ID:1599735 11700185 VCP valosin containing protein gene DOID:13636 Fanconi anemia ISO RGD:731621 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:11438206|PMID:16643430|PMID:24728327|PMID:25741868|PMID:26740942|PMID:28492532 11700185 VCP valosin containing protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731621 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot disease PMID:18845250|PMID:23333620|PMID:25617006|PMID:25741868|PMID:28492532|PMID:33144514 11700185 VCP valosin containing protein gene DOID:3429 inclusion body myositis ISO RGD:731621 D RGD:9068941 20200609 RGD IBMPFD, OMIM:167320 PMID:15034582|REF_RGD_ID:1599735 11700185 VCP valosin containing protein gene DOID:5408 Paget's disease of bone ISO RGD:731621 D RGD:9068941 20200609 RGD IBMPFD, OMIM:167320 PMID:15034582|REF_RGD_ID:1599735 11700185 VCP valosin containing protein gene DOID:607 paraplegia ISO RGD:731621 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:18845250|PMID:23333620|PMID:25617006|PMID:25741868|PMID:28492532|PMID:33144514 11700185 VCP valosin containing protein gene DOID:630 genetic disease ISO RGD:731621 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15034582|PMID:16321991|PMID:16790606|PMID:16984901|PMID:17329348|PMID:17576681|PMID:18341608|PMID:18845250|PMID:19237541|PMID:20008565|PMID:20104022|PMID:20512113|PMID:20604808|PMID:20957154|PMID:21145000|PMID:21387114|PMID:21822278|PMID:21920633|PMID:22078486|PMID:22137929|PMID:22270372|PMID:22686199|PMID:22898872|PMID:23029473|PMID:23169451|PMID:23333620|PMID:23498975|PMID:24196964|PMID:24838343|PMID:25125609|PMID:25388089|PMID:25617006|PMID:25618255|PMID:25741868|PMID:25775548|PMID:26467025|PMID:27790088|PMID:28130640|PMID:28492532|PMID:30270202|PMID:30293881|PMID:31687228|PMID:33144514|PMID:9536098 11700185 VCP valosin containing protein gene DOID:9000918 Disease Progression ISO RGD:731621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29693262 11700185 VCP valosin containing protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:731621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29693262 11700185 VCP valosin containing protein gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:731621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11700185 VCP valosin containing protein gene DOID:9005532 Muscle Weakness ISO RGD:731621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25884947 11700185 VCP valosin containing protein gene DOID:9006205 Animal Disease Models ISO RGD:731621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25884947 11700185 VCP valosin containing protein gene DOID:9006262 Cytomegalovirus Infections ISO RGD:731621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28494016 11700185 VCP valosin containing protein gene DOID:9008086 Developmental Disabilities ISO RGD:731621 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11700185 VCP valosin containing protein gene DOID:9255 frontotemporal dementia ISO RGD:731622 D RGD:9068941 20220825 MouseDO OMIM:600274 11700185 VCP valosin containing protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:731621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11700185 VCP valosin containing protein gene DOID:9870 galactosemia ISO RGD:731621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11700211 ZNF549 zinc finger protein 549 gene DOID:630 genetic disease ISO RGD:1344121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11700222 CDNF cerebral dopamine neurotrophic factor gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1316888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11700222 CDNF cerebral dopamine neurotrophic factor gene DOID:630 genetic disease ISO RGD:1316888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11700230 TCEA2 transcription elongation factor A2 gene DOID:630 genetic disease ISO RGD:731353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11700230 TCEA2 transcription elongation factor A2 gene DOID:9119 acute myeloid leukemia ISO RGD:731353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11700260 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:2843 long QT syndrome ISO RGD:1320847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11700260 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:630 genetic disease ISO RGD:1320847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11700298 P3H4 prolyl 3-hydroxylase family member 4 (inactive) gene DOID:630 genetic disease ISO RGD:732924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11700307 COQ7 coenzyme Q7, hydroxylase gene DOID:0060859 salmonellosis susceptibility ISO RGD:10379 D RGD:9068941 20200609 RGD PMID:23166727|REF_RGD_ID:10402105 11700307 COQ7 coenzyme Q7, hydroxylase gene DOID:0070245 primary coenzyme Q10 deficiency 8 ISO RGD:737189 D RGD:7240710 20190315 OMIM 11700307 COQ7 coenzyme Q7, hydroxylase gene DOID:0070245 primary coenzyme Q10 deficiency 8 ISO RGD:737189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary coenzyme Q10 deficiency 8 PMID:25741868|PMID:26084283|PMID:28492532|PMID:30369941|PMID:31240163|PMID:32963807 11700307 COQ7 coenzyme Q7, hydroxylase gene DOID:224 transient cerebral ischemia severity ISO RGD:10379 D RGD:9068941 20200609 RGD PMID:20170652|REF_RGD_ID:10402096 11700307 COQ7 coenzyme Q7, hydroxylase gene DOID:630 genetic disease ISO RGD:737189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11700307 COQ7 coenzyme Q7, hydroxylase gene DOID:890 mitochondrial encephalomyopathy ISO RGD:10379 D RGD:9068941 20200609 RGD protein:decreased expression:heart (mouse) PMID:23255162|REF_RGD_ID:10402107 11700307 COQ7 coenzyme Q7, hydroxylase gene DOID:9002644 Premature Aging ISO RGD:10379 D RGD:9068941 20200609 RGD PMID:19478076|REF_RGD_ID:10402088 11700307 COQ7 coenzyme Q7, hydroxylase gene DOID:9003690 Carcinoma, Lewis Lung susceptibility ISO RGD:10379 D RGD:9068941 20200609 RGD PMID:23166727|REF_RGD_ID:10402105 11700307 COQ7 coenzyme Q7, hydroxylase gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:2381 D RGD:9068941 20200609 RGD associated with Hypertension;protein:altered expression:heart PMID:17130255|REF_RGD_ID:2313649 11700307 COQ7 coenzyme Q7, hydroxylase gene DOID:9007346 Cachexia susceptibility ISO RGD:10379 D RGD:9068941 20200609 RGD PMID:23166727|REF_RGD_ID:10402105 11700322 KARS1 lysyl-tRNA synthetase 1 gene DOID:0050563 nonsyndromic deafness ISO RGD:1345099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:21181198|PMID:23768514|PMID:24824130|PMID:25741868 11700322 KARS1 lysyl-tRNA synthetase 1 gene DOID:0060786 hypomyelinating leukodystrophy ISO RGD:1345099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy PMID:25741868|PMID:33260297 11700322 KARS1 lysyl-tRNA synthetase 1 gene DOID:0110204 Charcot-Marie-Tooth disease recessive intermediate B ISO RGD:1345099 D RGD:7240710 20180130 OMIM 11700322 KARS1 lysyl-tRNA synthetase 1 gene DOID:0110204 Charcot-Marie-Tooth disease recessive intermediate B ISO RGD:1345099 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate B PMID:20920668|PMID:23596069|PMID:24033266|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30252186|PMID:30311386|PMID:30369941|PMID:31116475 11700322 KARS1 lysyl-tRNA synthetase 1 gene DOID:0110534 autosomal recessive nonsyndromic deafness 89 ISO RGD:1345099 D RGD:7240710 20180130 OMIM 11700322 KARS1 lysyl-tRNA synthetase 1 gene DOID:0110534 autosomal recessive nonsyndromic deafness 89 ISO RGD:1345099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 89 PMID:21181198|PMID:21427441|PMID:23596069|PMID:23768514|PMID:24033266|PMID:24824130|PMID:25356970|PMID:25741868|PMID:28492532|PMID:28887846|PMID:29615062|PMID:30252186|PMID:30311386|PMID:30369941|PMID:31116475|PMID:32730690|PMID:33260297|PMID:34062854 11700322 KARS1 lysyl-tRNA synthetase 1 gene DOID:0110989 Joubert syndrome 20 ISO RGD:1345099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 20 PMID:23012439|PMID:23349226|PMID:28492532 11700322 KARS1 lysyl-tRNA synthetase 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1345099 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:23596069|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30252186|PMID:30311386|PMID:30369941|PMID:31116475|PMID:33260297 11700322 KARS1 lysyl-tRNA synthetase 1 gene DOID:10579 leukodystrophy ISO RGD:1345099 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:25741868|PMID:33260297 11700322 KARS1 lysyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1345099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:20920668|PMID:28492532 11700322 KARS1 lysyl-tRNA synthetase 1 gene DOID:11446 sciatic neuropathy ISO RGD:1359653 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:dorsal root ganglion: PMID:25467976|REF_RGD_ID:12910554 11700322 KARS1 lysyl-tRNA synthetase 1 gene DOID:1891 optic nerve disease ISO RGD:1345099 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Optic neuropathy PMID:23596069|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30252186|PMID:30311386|PMID:30369941|PMID:31116475 11700322 KARS1 lysyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1345099 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10913247|PMID:23596069|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30252186|PMID:30369941|PMID:31116475 11700322 KARS1 lysyl-tRNA synthetase 1 gene DOID:9000305 LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS ISO RGD:1345099 D RGD:7240710 20210414 OMIM 11700322 KARS1 lysyl-tRNA synthetase 1 gene DOID:9000305 LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS ISO RGD:1345099 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS | ClinVar Annotator: match by term: Leukoencephalopathy, progressive, infantile-onset, with or without deafness PMID:21181198|PMID:21427441|PMID:23596069|PMID:23768514|PMID:24824130|PMID:25356970|PMID:25741868|PMID:27243033|PMID:28492532|PMID:28887846|PMID:29615062|PMID:30252186|PMID:30369941|PMID:31116475|PMID:32730690|PMID:33260297|PMID:33942428 11700322 KARS1 lysyl-tRNA synthetase 1 gene DOID:9004489 DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY ISO RGD:1345099 D RGD:7240710 20210407 OMIM 11700322 KARS1 lysyl-tRNA synthetase 1 gene DOID:9004489 DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY ISO RGD:1345099 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Deafness, congenital, and adult-onset progressive leukoencephalopathy PMID:21427441|PMID:23596069|PMID:25356970|PMID:25741868|PMID:28492532|PMID:28887846|PMID:29615062|PMID:30252186|PMID:30311386|PMID:30369941|PMID:31116475|PMID:33260297 11700322 KARS1 lysyl-tRNA synthetase 1 gene DOID:9004538 Hearing Loss ISO RGD:1345099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386 11700322 KARS1 lysyl-tRNA synthetase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1345099 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:33260297 11700350 LOC100985075 taste receptor type 2 member 20 gene DOID:10283 prostate cancer ISO RGD:1350205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11700350 LOC100985075 taste receptor type 2 member 20 gene DOID:630 genetic disease ISO RGD:1350205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11700354 RCAN1 regulator of calcineurin 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:735348 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11700354 RCAN1 regulator of calcineurin 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:735348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 11700354 RCAN1 regulator of calcineurin 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:735348 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11700354 RCAN1 regulator of calcineurin 1 gene DOID:0110648 long QT syndrome 6 ISO RGD:735348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 6 PMID:21626672|PMID:28492532 11700354 RCAN1 regulator of calcineurin 1 gene DOID:10652 Alzheimer's disease ISO RGD:735348 D RGD:9068941 20200609 RGD PMID:11483593|REF_RGD_ID:1580889 11700354 RCAN1 regulator of calcineurin 1 gene DOID:12858 Huntington's disease ISO RGD:735348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270310 11700354 RCAN1 regulator of calcineurin 1 gene DOID:14250 Down syndrome ISO RGD:735348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15906378 11700354 RCAN1 regulator of calcineurin 1 gene DOID:1588 thrombocytopenia ISO RGD:735348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 11700354 RCAN1 regulator of calcineurin 1 gene DOID:1682 congenital heart disease ISO RGD:735348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15906378 11700354 RCAN1 regulator of calcineurin 1 gene DOID:630 genetic disease ISO RGD:735348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11700354 RCAN1 regulator of calcineurin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11700354 RCAN1 regulator of calcineurin 1 gene DOID:7148 rheumatoid arthritis ISO RGD:735348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 11700354 RCAN1 regulator of calcineurin 1 gene DOID:9003936 Cardiomegaly ISO RGD:631338 D RGD:9068941 20200609 RGD PMID:12124198|REF_RGD_ID:625605 11700354 RCAN1 regulator of calcineurin 1 gene DOID:9003936 Cardiomegaly ISO RGD:731330 D RGD:9068941 20200609 RGD PMID:12515860|REF_RGD_ID:734902 11700354 RCAN1 regulator of calcineurin 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:735348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15906378 11700362 LOC100987247 putative teratocarcinoma-derived growth factor 3 gene DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ISO RGD:1347488 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 11700362 LOC100987247 putative teratocarcinoma-derived growth factor 3 gene DOID:12849 autistic disorder ISO RGD:1347488 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11700362 LOC100987247 putative teratocarcinoma-derived growth factor 3 gene DOID:5419 schizophrenia ISO RGD:1347488 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11700367 LCMT1 leucine carboxyl methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1351587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11700367 LCMT1 leucine carboxyl methyltransferase 1 gene DOID:9004994 Embryo Loss ISO RGD:1351587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17724024 11700386 ADAMTSL3 ADAMTS like 3 gene DOID:13938 amenorrhea ISO RGD:1313018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11700386 ADAMTSL3 ADAMTS like 3 gene DOID:1749 squamous cell carcinoma ISO RGD:1313018 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 11700386 ADAMTSL3 ADAMTS like 3 gene DOID:2717 Bloom syndrome ISO RGD:1313018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11700386 ADAMTSL3 ADAMTS like 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1313018 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 11700386 ADAMTSL3 ADAMTS like 3 gene DOID:630 genetic disease ISO RGD:1313018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11700386 ADAMTSL3 ADAMTS like 3 gene DOID:9256 colorectal cancer ISO RGD:1313018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11700420 CPNE8 copine 8 gene DOID:630 genetic disease ISO RGD:1317425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11700444 PRR12 proline rich 12 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1320487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11700444 PRR12 proline rich 12 gene DOID:1059 intellectual disability ISO RGD:1320487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11700444 PRR12 proline rich 12 gene DOID:10629 microphthalmia ISO RGD:1320487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: complex microphthalmia PMID:33314030 11700444 PRR12 proline rich 12 gene DOID:12849 autistic disorder ISO RGD:1320487 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868|PMID:29556724|PMID:33824499 11700444 PRR12 proline rich 12 gene DOID:630 genetic disease ISO RGD:1320487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11700444 PRR12 proline rich 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320487 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:27479843|PMID:28135719|PMID:29556724|PMID:33824499 11700444 PRR12 proline rich 12 gene DOID:9004543 NEUROOCULAR SYNDROME ISO RGD:1320487 D RGD:7240710 20211027 OMIM 11700444 PRR12 proline rich 12 gene DOID:9004543 NEUROOCULAR SYNDROME ISO RGD:1320487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroocular syndrome PMID:25741868|PMID:29556724|PMID:33314030|PMID:33824499 11700463 MED25 mediator complex subunit 25 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1347126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:16199547|PMID:17576681|PMID:25488817|PMID:25527630|PMID:25741868|PMID:26257172|PMID:28492532|PMID:30039206|PMID:30800049|PMID:9536098 11700463 MED25 mediator complex subunit 25 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1347126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:16199547|PMID:17576681|PMID:25488817|PMID:25527630|PMID:25741868|PMID:26257172|PMID:28170084|PMID:28492532|PMID:30039206|PMID:30800049|PMID:31602195|PMID:32324310|PMID:32371413|PMID:32376792|PMID:9536098 11700463 MED25 mediator complex subunit 25 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1347126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11700463 MED25 mediator complex subunit 25 gene DOID:0110179 Charcot-Marie-Tooth disease type 2B2 ISO RGD:1347126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2 PMID:25488817|PMID:25527630|PMID:25741868|PMID:28492532|PMID:30039206|PMID:32324310|PMID:32371413 11700463 MED25 mediator complex subunit 25 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1347126 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25488817|PMID:25741868|PMID:26257172|PMID:28492532|PMID:30039206|PMID:32376792 11700463 MED25 mediator complex subunit 25 gene DOID:1389 polyneuropathy ISO RGD:1347126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:25741868|PMID:28492532 11700463 MED25 mediator complex subunit 25 gene DOID:630 genetic disease ISO RGD:1347126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:32376792|PMID:9536098 11700463 MED25 mediator complex subunit 25 gene DOID:9001276 Failure to Thrive ISO RGD:1347126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:28492532 11700463 MED25 mediator complex subunit 25 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11700463 MED25 mediator complex subunit 25 gene DOID:9005442 Basel-Vanagaite-Smirin-Yosef syndrome ISO RGD:1347126 D RGD:7240710 20180130 OMIM 11700463 MED25 mediator complex subunit 25 gene DOID:9005442 Basel-Vanagaite-Smirin-Yosef syndrome ISO RGD:1347126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome PMID:25488817|PMID:25741868|PMID:25792360|PMID:28170084|PMID:28492532|PMID:30039206|PMID:32324310|PMID:32376792 11700485 TNFRSF11A TNF receptor superfamily member 11a gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1321639 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11700485 TNFRSF11A TNF receptor superfamily member 11a gene DOID:0080006 bone development disease ISO RGD:1321639 D RGD:9068941 20200609 RGD familial expansile osteolysis, OMIM:174810 PMID:10615125|REF_RGD_ID:1599463 11700485 TNFRSF11A TNF receptor superfamily member 11a gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1321639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 11700485 TNFRSF11A TNF receptor superfamily member 11a gene DOID:0110946 autosomal recessive osteopetrosis 7 ISO RGD:1321639 D RGD:7240710 20180130 OMIM 11700485 TNFRSF11A TNF receptor superfamily member 11a gene DOID:0110946 autosomal recessive osteopetrosis 7 ISO RGD:1321639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7 PMID:15231021|PMID:17576681|PMID:18606301|PMID:19940926|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 11700485 TNFRSF11A TNF receptor superfamily member 11a gene DOID:0111542 familial expansile osteolysis ISO RGD:1321639 D RGD:7240710 20180130 OMIM 11700485 TNFRSF11A TNF receptor superfamily member 11a gene DOID:0111542 familial expansile osteolysis ISO RGD:1321639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial expansile osteolysis PMID:10615125|PMID:12362049|PMID:12568416|PMID:17447113|PMID:21472776|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7911698 11700485 TNFRSF11A TNF receptor superfamily member 11a gene DOID:10534 stomach cancer severity ISO RGD:1321639 D RGD:9068941 20220616 RGD mRNA:altered expression:stomach tumor (human) PMID:28035468|REF_RGD_ID:152995287 11700485 TNFRSF11A TNF receptor superfamily member 11a gene DOID:11476 osteoporosis ISO RGD:1321639 D RGD:9068941 20200609 RGD PMID:17002564|REF_RGD_ID:1625350 11700485 TNFRSF11A TNF receptor superfamily member 11a gene DOID:13533 osteopetrosis ISO RGD:1321639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteopetrosis PMID:24033266|PMID:25741868|PMID:28492532 11700485 TNFRSF11A TNF receptor superfamily member 11a gene DOID:4254 osteosclerosis ISO RGD:1321639 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:24033266|PMID:25741868|PMID:28492532 11700485 TNFRSF11A TNF receptor superfamily member 11a gene DOID:5408 Paget's disease of bone ISO RGD:1321639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone Paget disease | ClinVar Annotator: match by term: Paget disease of bone PMID:24033266|PMID:25741868|PMID:28492532 11700485 TNFRSF11A TNF receptor superfamily member 11a gene DOID:630 genetic disease ISO RGD:1321639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11700485 TNFRSF11A TNF receptor superfamily member 11a gene DOID:820 myocarditis ISO RGD:1563614 D RGD:9068941 20200609 RGD associated with Autoimmune Diseases;mRNA:increased expression:heart myocardium PMID:18417124|REF_RGD_ID:2302361 11700485 TNFRSF11A TNF receptor superfamily member 11a gene DOID:9000965 Neoplasm Metastasis ISO RGD:1321639 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;protein:increased expression:bone, lymph node PMID:16752412|REF_RGD_ID:2302322 11700485 TNFRSF11A TNF receptor superfamily member 11a gene DOID:9001547 Tibial Fractures ISO RGD:1563614 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18592139|REF_RGD_ID:2302324 11700485 TNFRSF11A TNF receptor superfamily member 11a gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1321639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16270354 11700485 TNFRSF11A TNF receptor superfamily member 11a gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321640 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18317887|REF_RGD_ID:2291908 11700485 TNFRSF11A TNF receptor superfamily member 11a gene DOID:9003060 Paget Disease of Bone 2, Early-Onset ISO RGD:1321639 D RGD:7240710 20190327 OMIM 11700485 TNFRSF11A TNF receptor superfamily member 11a gene DOID:9003060 Paget Disease of Bone 2, Early-Onset ISO RGD:1321639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paget disease of bone 2, early-onset PMID:10615125|PMID:11771666|PMID:12568416|PMID:17447113|PMID:17576681|PMID:21472776|PMID:25063546|PMID:25741868|PMID:28492532|PMID:31923705|PMID:9536098 11700485 TNFRSF11A TNF receptor superfamily member 11a gene DOID:9005372 Inflammation ISO RGD:1321639 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;mRNA:increased expression:breast PMID:18248671|REF_RGD_ID:2302321 11700509 HMBS hydroxymethylbilane synthase gene DOID:0060017 CD3epsilon deficiency ISO RGD:733095 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11700509 HMBS hydroxymethylbilane synthase gene DOID:0060837 isolated microphthalmia 5 ISO RGD:733095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11700509 HMBS hydroxymethylbilane synthase gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:18414213|PMID:25741868|PMID:28492532 11700509 HMBS hydroxymethylbilane synthase gene DOID:0080690 RASopathy ISO RGD:733095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11700509 HMBS hydroxymethylbilane synthase gene DOID:0081330 glycogen storage disease Ib ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 11700509 HMBS hydroxymethylbilane synthase gene DOID:0110651 long QT syndrome 10 ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11700509 HMBS hydroxymethylbilane synthase gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates PMID:18414213|PMID:25741868|PMID:28492532 11700509 HMBS hydroxymethylbilane synthase gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:733095 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11700509 HMBS hydroxymethylbilane synthase gene DOID:0111971 immunodeficiency 18 ISO RGD:733095 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11700509 HMBS hydroxymethylbilane synthase gene DOID:0111972 immunodeficiency 19 ISO RGD:733095 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11700509 HMBS hydroxymethylbilane synthase gene DOID:0111973 immunodeficiency 17 ISO RGD:733095 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11700509 HMBS hydroxymethylbilane synthase gene DOID:10286 prostate carcinoma ISO RGD:733095 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:in matched malignant and non-malignant sample pairs (p = 0.009) PMID:16211407|REF_RGD_ID:2301682 11700509 HMBS hydroxymethylbilane synthase gene DOID:10923 sickle cell anemia ISO RGD:733095 D RGD:9068941 20200609 RGD protein:increased activity:erythrocyte PMID:900140|REF_RGD_ID:12904674 11700509 HMBS hydroxymethylbilane synthase gene DOID:11054 urinary bladder cancer ISO RGD:733095 D RGD:9068941 20200609 RGD urinary bladder transitional cell carcinoma; mRNA:decreased expression:tumor:in matched malignant and non-malignant sample pairs (p = 0.008) PMID:16600798|REF_RGD_ID:2301681 11700509 HMBS hydroxymethylbilane synthase gene DOID:13603 obstructive jaundice ISO RGD:2801 D RGD:9068941 20200609 RGD Protein:increased activity:liver (rat) PMID:3963818|REF_RGD_ID:4144803 11700509 HMBS hydroxymethylbilane synthase gene DOID:2030 anxiety disorder ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anxiety PMID:25741868 11700509 HMBS hydroxymethylbilane synthase gene DOID:2741 bilirubin metabolic disorder ISO RGD:2801 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:3963818|REF_RGD_ID:4144803 11700509 HMBS hydroxymethylbilane synthase gene DOID:3133 acute porphyria ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute Porphyria PMID:18414213|PMID:25741868|PMID:28492532 11700509 HMBS hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria ISO RGD:733095 D RGD:7240710 20180130 OMIM 11700509 HMBS hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria ISO RGD:733095 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Abnormality of the heme biosynthetic pathway | ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: Porphyria, Swedish type PMID:10408772|PMID:10453740|PMID:10494093|PMID:10502788|PMID:10782018|PMID:10944860|PMID:11055586|PMID:11399210|PMID:11831862|PMID:11857754|PMID:12357456|PMID:12372055|PMID:12566739|PMID:12773194|PMID:1301948|PMID:1427766|PMID:1496994|PMID:14970743|PMID:15003823|PMID:15469427|PMID:15534187|PMID:15643298|PMID:1577472|PMID:16025832|PMID:16199547|PMID:16211556|PMID:16817012|PMID:1714233|PMID:17298217|PMID:17576681|PMID:18414213|PMID:18627369|PMID:19138865|PMID:19267997|PMID:19292878|PMID:19401933|PMID:19460837|PMID:1961762|PMID:19656452|PMID:19656453|PMID:19694018|PMID:2025226|PMID:20301372|PMID:20978940|PMID:2227955|PMID:2243128|PMID:23815679|PMID:24997713|PMID:25016127|PMID:25118551|PMID:25637381|PMID:25741868|PMID:26075277|PMID:26095755|PMID:26582343|PMID:27507172|PMID:27539938|PMID:27558376|PMID:27849156|PMID:27884173|PMID:2789372|PMID:28492532|PMID:2864531|PMID:29360981|PMID:30740734|PMID:31044425|PMID:31073229|PMID:32581362|PMID:33445488|PMID:34089223|PMID:6985467|PMID:7635464|PMID:7757070|PMID:7962538|PMID:8081367|PMID:8096492|PMID:8168829|PMID:8262514|PMID:8262523|PMID:8268934|PMID:8270254|PMID:8270256|PMID:8401516|PMID:8565205|PMID:9067752|PMID:9199558|PMID:9225970|PMID:9238757|PMID:9281416|PMID:9350165|PMID:9463797|PMID:9536098|PMID:9702975 11700509 HMBS hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria severity ISO RGD:733096 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: p.R167Q (c.500G>A) (mouse) PMID:30615115|REF_RGD_ID:21079460 11700509 HMBS hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria susceptibility ISO RGD:733095 D RGD:9068941 20200609 RGD DNA:missense mutation:exon 10: p.R173W (c.517C>T) (human) PMID:9523350|REF_RGD_ID:19165353 11700509 HMBS hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria treatment ISO RGD:733095 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:28990424|REF_RGD_ID:21079452 11700509 HMBS hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria treatment ISO RGD:733095 D RGD:9068941 20200609 RGD human mRNA in a mouse model PMID:30297912|REF_RGD_ID:21079456 11700509 HMBS hydroxymethylbilane synthase gene DOID:4440 seminoma ISO RGD:733095 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor PMID:15823405|REF_RGD_ID:2301683 11700509 HMBS hydroxymethylbilane synthase gene DOID:5212 congenital disorder of glycosylation ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:18414213|PMID:25741868|PMID:28492532 11700509 HMBS hydroxymethylbilane synthase gene DOID:5419 schizophrenia ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11700509 HMBS hydroxymethylbilane synthase gene DOID:630 genetic disease ISO RGD:733095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26795593|PMID:28492532 11700509 HMBS hydroxymethylbilane synthase gene DOID:686 liver carcinoma sexual_dimorphism ISO RGD:2801 D RGD:9068941 20200609 RGD Protein:increased activity:liver (rat) PMID:1781034|REF_RGD_ID:25440495 11700509 HMBS hydroxymethylbilane synthase gene DOID:9000808 Hypercholesterolemia ISO RGD:733095 D RGD:9068941 20200609 RGD associated with Porphyria, Acute Intermittent (MeSH:D017118); protein:reduced activity:erythrocytes PMID:2809566|REF_RGD_ID:2301684 11700509 HMBS hydroxymethylbilane synthase gene DOID:9002558 Acute Intermittent Porphyria, Nonerythroid Variant ISO RGD:733095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Porphyria, acute intermittent, nonerythroid variant PMID:10343207|PMID:11071386|PMID:12406973|PMID:16199547|PMID:2511016|PMID:2563167|PMID:25923088|PMID:27539938|PMID:28492532|PMID:2915972|PMID:7757070|PMID:7962538|PMID:9199558|PMID:9860299 11700509 HMBS hydroxymethylbilane synthase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11700509 HMBS hydroxymethylbilane synthase gene DOID:9005584 Hepatic Porphyrias ISO RGD:2801 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:6721832|REF_RGD_ID:4144806 11700509 HMBS hydroxymethylbilane synthase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2801 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:6688350|REF_RGD_ID:4144808 11700509 HMBS hydroxymethylbilane synthase gene DOID:9005734 Abdominal Pain ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abdominal pain 11700509 HMBS hydroxymethylbilane synthase gene DOID:9006618 Liver Metastasis ISO RGD:2801 D RGD:9068941 20200609 RGD associated with colon adenocarcinoma;protein:decreased activity:liver(rat) PMID:1386052|REF_RGD_ID:25440496 11700509 HMBS hydroxymethylbilane synthase gene DOID:9007661 Dwarfism ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11700509 HMBS hydroxymethylbilane synthase gene DOID:9008385 Vomiting ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vomiting PMID:25741868 11700531 SLF1 SMC5-SMC6 complex localization factor 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1312535 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11700531 SLF1 SMC5-SMC6 complex localization factor 1 gene DOID:630 genetic disease ISO RGD:1312535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11700531 SLF1 SMC5-SMC6 complex localization factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312535 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11700531 SLF1 SMC5-SMC6 complex localization factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1312535 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11700593 FAM181B family with sequence similarity 181 member B gene DOID:1059 intellectual disability ISO RGD:1605261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11700593 FAM181B family with sequence similarity 181 member B gene DOID:630 genetic disease ISO RGD:1605261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11700605 ZBED10P Putative protein ZBED10P gene DOID:630 genetic disease ISO RGD:1321295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11700611 LOC100970305 olfactory receptor 2T3 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1349827 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11700611 LOC100970305 olfactory receptor 2T3 gene DOID:1540 parathyroid carcinoma ISO RGD:1349827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11700611 LOC100970305 olfactory receptor 2T3 gene DOID:630 genetic disease ISO RGD:1349827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11700611 LOC100970305 olfactory receptor 2T3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11700614 IL18 interleukin 18 gene DOID:0050120 hemophagocytic lymphohistiocytosis ISO RGD:730894 D RGD:9068941 20200609 RGD associated with Epstein-Barr Virus Infections;protein:increased expression:serum PMID:20472718|REF_RGD_ID:8655917 11700614 IL18 interleukin 18 gene DOID:0050847 sleep apnea severity ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:19187612|REF_RGD_ID:4889903 11700614 IL18 interleukin 18 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16428475|REF_RGD_ID:8655925 11700614 IL18 interleukin 18 gene DOID:0060319 cardiac arrest ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:18679114|REF_RGD_ID:4889454 11700614 IL18 interleukin 18 gene DOID:0070227 intrahepatic cholestasis of pregnancy severity ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:28697498|REF_RGD_ID:14696655 11700614 IL18 interleukin 18 gene DOID:0080162 lupus nephritis ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:20980973|REF_RGD_ID:6893449 11700614 IL18 interleukin 18 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20422882|REF_RGD_ID:14696664 11700614 IL18 interleukin 18 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:28660148|REF_RGD_ID:14696674 11700614 IL18 interleukin 18 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:24006666|REF_RGD_ID:8655964 11700614 IL18 interleukin 18 gene DOID:0080600 COVID-19 ISO RGD:730894 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11700614 IL18 interleukin 18 gene DOID:0080600 COVID-19 ISO RGD:730894 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 11700614 IL18 interleukin 18 gene DOID:0080600 COVID-19 severity ISO RGD:730894 D RGD:9068941 20200618 RGD protein:increased expression:plasma (human) PMID:32360286|REF_RGD_ID:30309209 11700614 IL18 interleukin 18 gene DOID:0080745 polymyositis ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20601655|REF_RGD_ID:4889547 11700614 IL18 interleukin 18 gene DOID:0080784 urinary tract infection ISO RGD:2889 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:19171043|REF_RGD_ID:2311084 11700614 IL18 interleukin 18 gene DOID:0081120 Graves ophthalmopathy treatment ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:12689659|REF_RGD_ID:8655878 11700614 IL18 interleukin 18 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:730894 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 11700614 IL18 interleukin 18 gene DOID:10223 dermatomyositis ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20601655|REF_RGD_ID:4889547 11700614 IL18 interleukin 18 gene DOID:10457 Legionnaires' disease ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:11083766|REF_RGD_ID:4889865 11700614 IL18 interleukin 18 gene DOID:1059 intellectual disability ISO RGD:730894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11700614 IL18 interleukin 18 gene DOID:10955 strongyloidiasis treatment ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:16129701|REF_RGD_ID:8655932 11700614 IL18 interleukin 18 gene DOID:11162 respiratory failure ISO RGD:730894 D RGD:9068941 20200609 RGD associated with pancreatitis; protein:increased expression:plasma PMID:19357034|REF_RGD_ID:4889556 11700614 IL18 interleukin 18 gene DOID:11335 sarcoidosis ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16100009 11700614 IL18 interleukin 18 gene DOID:11335 sarcoidosis disease_progression ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17015003|REF_RGD_ID:4889815 11700614 IL18 interleukin 18 gene DOID:11396 pulmonary edema ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:19394645|REF_RGD_ID:4889555 11700614 IL18 interleukin 18 gene DOID:114 heart disease ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:20644901|REF_RGD_ID:4889158 11700614 IL18 interleukin 18 gene DOID:1205 allergic disease ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11700614 IL18 interleukin 18 gene DOID:12351 alcoholic hepatitis severity ISO RGD:730894 D RGD:9068941 20200609 RGD associated alcoholic liver cirrhosis; protein:increased expression:plasma: PMID:15566508|REF_RGD_ID:14696666 11700614 IL18 interleukin 18 gene DOID:12361 Graves' disease ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12689659|REF_RGD_ID:8655878 11700614 IL18 interleukin 18 gene DOID:12361 Graves' disease no_association ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon:multiple PMID:16571086|REF_RGD_ID:8655916 11700614 IL18 interleukin 18 gene DOID:12662 paracoccidioidomycosis treatment ISO RGD:730894 D RGD:9068941 20201015 RGD PMID:28992214|REF_RGD_ID:39938858 11700614 IL18 interleukin 18 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:rs360721 (human) PMID:18043444|REF_RGD_ID:4889584 11700614 IL18 interleukin 18 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:20130064|REF_RGD_ID:4889550 11700614 IL18 interleukin 18 gene DOID:12894 Sjogren's syndrome ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:saliva PMID:23906036|REF_RGD_ID:8655918 11700614 IL18 interleukin 18 gene DOID:13141 uveitis treatment ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:22562515|REF_RGD_ID:8655982 11700614 IL18 interleukin 18 gene DOID:13241 Behcet's disease ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:14727452|REF_RGD_ID:4889844 11700614 IL18 interleukin 18 gene DOID:13241 Behcet's disease no_association ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:promoter:-607C>A (rs1946518) (human) PMID:16273766|REF_RGD_ID:8655910 11700614 IL18 interleukin 18 gene DOID:13241 Behcet's disease no_association ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-1297T>C (rs360719), -137G>C (rs187238) (human) PMID:21532063|REF_RGD_ID:8655926 11700614 IL18 interleukin 18 gene DOID:13241 Behcet's disease susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human) PMID:17055358|REF_RGD_ID:8655897 11700614 IL18 interleukin 18 gene DOID:13241 Behcet's disease susceptibility ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:15234532|REF_RGD_ID:8655927 11700614 IL18 interleukin 18 gene DOID:13375 temporal arteritis ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-607C>A (rs1946518), -1297T>C (rs360719) (human) PMID:20331879|REF_RGD_ID:8655865 11700614 IL18 interleukin 18 gene DOID:13375 temporal arteritis no_association ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-137G>C (rs187238) (human) PMID:20331879|REF_RGD_ID:8655865 11700614 IL18 interleukin 18 gene DOID:13378 Kawasaki disease ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:silent mutation, haplotypes:cds:c.105A>C (rs549908) (human) PMID:19288449|REF_RGD_ID:8655898 11700614 IL18 interleukin 18 gene DOID:13378 Kawasaki disease disease_progression ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:15345916|REF_RGD_ID:8655924 11700614 IL18 interleukin 18 gene DOID:13378 Kawasaki disease susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:-137G>C, -607C>A, -656G>T (rs187238, rs1946519, rs1946518) (human) PMID:18484687|REF_RGD_ID:8655874 11700614 IL18 interleukin 18 gene DOID:13406 pulmonary sarcoidosis ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:bronchoalveolar lavage fluid PMID:16734560|REF_RGD_ID:4889823 11700614 IL18 interleukin 18 gene DOID:13406 pulmonary sarcoidosis ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11174201|REF_RGD_ID:4889863 11700614 IL18 interleukin 18 gene DOID:13608 biliary atresia ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:10726686|REF_RGD_ID:14695529 11700614 IL18 interleukin 18 gene DOID:13608 biliary atresia susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:rs187238,rs1946518(human) PMID:30059753|REF_RGD_ID:14695528 11700614 IL18 interleukin 18 gene DOID:14566 disease of cellular proliferation ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21273262 11700614 IL18 interleukin 18 gene DOID:1485 cystic fibrosis ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20026745|REF_RGD_ID:4889551 11700614 IL18 interleukin 18 gene DOID:1555 urticaria ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18204966 11700614 IL18 interleukin 18 gene DOID:1555 urticaria ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:24490166|REF_RGD_ID:8655890 11700614 IL18 interleukin 18 gene DOID:1555 urticaria ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human) PMID:21692767|REF_RGD_ID:8655894 11700614 IL18 interleukin 18 gene DOID:1612 breast cancer ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-137G>C (rs187238) (human) PMID:19152241|REF_RGD_ID:8655899 11700614 IL18 interleukin 18 gene DOID:1612 breast cancer ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12209760|REF_RGD_ID:8655866 11700614 IL18 interleukin 18 gene DOID:1612 breast cancer no_association ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-607C>A (rs1946518) (human) PMID:19152241|REF_RGD_ID:8655899 11700614 IL18 interleukin 18 gene DOID:1679 cystitis ISO RGD:2889 D RGD:9068941 20200609 RGD protein:increased expression:urine, bladder PMID:18848347|REF_RGD_ID:2317284 11700614 IL18 interleukin 18 gene DOID:182 calcinosis ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11700614 IL18 interleukin 18 gene DOID:1824 status epilepticus ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:20674684|REF_RGD_ID:4889491 11700614 IL18 interleukin 18 gene DOID:1883 hepatitis C ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:27927859|REF_RGD_ID:14696653 11700614 IL18 interleukin 18 gene DOID:1883 hepatitis C disease_progression ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:21984735|REF_RGD_ID:14696657 11700614 IL18 interleukin 18 gene DOID:1883 hepatitis C disease_progression ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-607C>A, -137G>C(human) PMID:18781864|REF_RGD_ID:14695527 11700614 IL18 interleukin 18 gene DOID:1883 hepatitis C susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-607C>A (rs1946518)(human) PMID:26486291|REF_RGD_ID:14696654 11700614 IL18 interleukin 18 gene DOID:1883 hepatitis C treatment ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-137G>C,-607C>A(human) PMID:19455410|REF_RGD_ID:14695530 11700614 IL18 interleukin 18 gene DOID:1936 atherosclerosis ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:16732281|REF_RGD_ID:14695532 11700614 IL18 interleukin 18 gene DOID:1936 atherosclerosis treatment ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:23685195|REF_RGD_ID:8655997 11700614 IL18 interleukin 18 gene DOID:2043 hepatitis B disease_progression ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:promoter,intron,exon:���148G>C, +8925C>G,+13925A>C(human) PMID:19466545|REF_RGD_ID:14696658 11700614 IL18 interleukin 18 gene DOID:2043 hepatitis B susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD associated with hepatocellular carcinoma; DNA:SNP:promoter:-137G>C(rs187238)(human) PMID:27429592|REF_RGD_ID:14695540 11700614 IL18 interleukin 18 gene DOID:2048 autoimmune hepatitis ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 11700614 IL18 interleukin 18 gene DOID:2316 brain ischemia ISO RGD:2889 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:11807395|REF_RGD_ID:4889510 11700614 IL18 interleukin 18 gene DOID:2316 brain ischemia ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 11700614 IL18 interleukin 18 gene DOID:2723 dermatitis ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:12925208|REF_RGD_ID:8655896 11700614 IL18 interleukin 18 gene DOID:2773 contact dermatitis ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11700614 IL18 interleukin 18 gene DOID:2841 asthma ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:20497957|REF_RGD_ID:4889898 11700614 IL18 interleukin 18 gene DOID:2841 asthma ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:18826499|PMID:20497957|REF_RGD_ID:4889898|REF_RGD_ID:4889908 11700614 IL18 interleukin 18 gene DOID:2841 asthma disease_progression ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11174201|REF_RGD_ID:4889863 11700614 IL18 interleukin 18 gene DOID:2841 asthma severity ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter: c.-380C>G (rs5744247)(human) PMID:19745201|REF_RGD_ID:4889900 11700614 IL18 interleukin 18 gene DOID:2841 asthma severity ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:Promoter:c. -607C>A (rs1946518), -137G/C (rs187238) (human) PMID:17767553|REF_RGD_ID:4889585 11700614 IL18 interleukin 18 gene DOID:2841 asthma susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:c.and -137G>C (rs187238)(human) PMID:16433859|REF_RGD_ID:4889923 11700614 IL18 interleukin 18 gene DOID:2841 asthma susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:polymorphism: :c. -105A>C (human) PMID:18200581|REF_RGD_ID:4889910 11700614 IL18 interleukin 18 gene DOID:2921 glomerulonephritis ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18462998 11700614 IL18 interleukin 18 gene DOID:2945 severe acute respiratory syndrome ISO RGD:730894 D RGD:9068941 20200702 RGD protein:increased expression:serum (human) PMID:15602737|REF_RGD_ID:32716399 11700614 IL18 interleukin 18 gene DOID:2957 pulmonary tuberculosis ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15955140|REF_RGD_ID:4889836 11700614 IL18 interleukin 18 gene DOID:2986 IgA glomerulonephritis ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:22518072|REF_RGD_ID:6893446 11700614 IL18 interleukin 18 gene DOID:2987 familial Mediterranean fever ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16273770|REF_RGD_ID:8655877 11700614 IL18 interleukin 18 gene DOID:3008 invasive ductal carcinoma ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:21263407|REF_RGD_ID:8655888 11700614 IL18 interleukin 18 gene DOID:3021 acute kidney failure ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:11342578|REF_RGD_ID:6893450 11700614 IL18 interleukin 18 gene DOID:3042 allergic contact dermatitis ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27585668 11700614 IL18 interleukin 18 gene DOID:3042 allergic contact dermatitis ISO RGD:730895 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:9781803|REF_RGD_ID:8655902 11700614 IL18 interleukin 18 gene DOID:3042 allergic contact dermatitis treatment ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:12874202|REF_RGD_ID:8655940 11700614 IL18 interleukin 18 gene DOID:3070 high grade glioma treatment ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:18725309|REF_RGD_ID:8657054 11700614 IL18 interleukin 18 gene DOID:3082 interstitial lung disease ISO RGD:2889 D RGD:9068941 20200609 RGD associated with Pseudomonas Infection; protein:increased expression:lung PMID:20543002|REF_RGD_ID:4889883 11700614 IL18 interleukin 18 gene DOID:3082 interstitial lung disease ISO RGD:730894 D RGD:9068941 20200609 RGD associated with dermatomyositis; protein:increased expression:serum PMID:20601655|REF_RGD_ID:4889547 11700614 IL18 interleukin 18 gene DOID:3082 interstitial lung disease ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:21257923|REF_RGD_ID:5144220 11700614 IL18 interleukin 18 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20026745|REF_RGD_ID:4889551 11700614 IL18 interleukin 18 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:sputum, macrophage PMID:19208460|REF_RGD_ID:4889575 11700614 IL18 interleukin 18 gene DOID:326 ischemia ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:21289055|REF_RGD_ID:6893448 11700614 IL18 interleukin 18 gene DOID:3310 atopic dermatitis ISO RGD:730895 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11490156|REF_RGD_ID:8655908 11700614 IL18 interleukin 18 gene DOID:3310 atopic dermatitis ISO RGD:730895 D RGD:9068941 20220825 MouseDO OMIM:603165 11700614 IL18 interleukin 18 gene DOID:3310 atopic dermatitis no_association ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-137G>C (rs187238) (human) PMID:22840759|REF_RGD_ID:8655914 11700614 IL18 interleukin 18 gene DOID:3310 atopic dermatitis severity ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-140C>G (rs360721) (human) PMID:22840759|REF_RGD_ID:8655914 11700614 IL18 interleukin 18 gene DOID:3310 atopic dermatitis severity ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs795467, rs4937113, rs5744247 (human) PMID:17517100|REF_RGD_ID:8655876 11700614 IL18 interleukin 18 gene DOID:3310 atopic dermatitis severity ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15317323|REF_RGD_ID:8655872 11700614 IL18 interleukin 18 gene DOID:3526 cerebral infarction treatment ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:20584315|REF_RGD_ID:8655991 11700614 IL18 interleukin 18 gene DOID:3770 pulmonary fibrosis ISO RGD:730894 D RGD:9068941 20200609 RGD idiopathic pulmonary fibrosis; protein:increased expression:lung, serum PMID:15308504|REF_RGD_ID:4889841 11700614 IL18 interleukin 18 gene DOID:3770 pulmonary fibrosis ISO RGD:730895 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:18598692|REF_RGD_ID:4889581 11700614 IL18 interleukin 18 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15955140|REF_RGD_ID:4889836 11700614 IL18 interleukin 18 gene DOID:4079 heart valve disease ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11700614 IL18 interleukin 18 gene DOID:4481 allergic rhinitis no_association ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-140C>G (rs360721) (human) PMID:22840759|REF_RGD_ID:8655914 11700614 IL18 interleukin 18 gene DOID:4481 allergic rhinitis severity ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-137G>C (rs187238) (human) PMID:22840759|REF_RGD_ID:8655914 11700614 IL18 interleukin 18 gene DOID:4483 rhinitis ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17323858|REF_RGD_ID:4889916 11700614 IL18 interleukin 18 gene DOID:4483 rhinitis ISO RGD:730895 D RGD:9068941 20200609 RGD protein:increased expression:nasal lavage fluid, bronchoalveolar lavage fluid PMID:17305282|REF_RGD_ID:4889917 11700614 IL18 interleukin 18 gene DOID:4483 rhinitis disease_progression ISO RGD:730894 D RGD:9068941 20200609 RGD rhinitis allergic, seasonal; protein:increased expression:plasma PMID:15934281|REF_RGD_ID:4889927 11700614 IL18 interleukin 18 gene DOID:4724 brain edema treatment ISO RGD:2889 D RGD:9068941 20200609 RGD associated with Status Epilepticus PMID:22338606|REF_RGD_ID:6771363 11700614 IL18 interleukin 18 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:22046355|REF_RGD_ID:6893447 11700614 IL18 interleukin 18 gene DOID:4989 pancreatitis ISO RGD:2889 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19238530|REF_RGD_ID:4889404 11700614 IL18 interleukin 18 gene DOID:4989 pancreatitis treatment ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:23983797|REF_RGD_ID:8655988 11700614 IL18 interleukin 18 gene DOID:5082 liver cirrhosis ISO RGD:730894 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;mRNA:increased expression:PBMC: PMID:19740312|REF_RGD_ID:14696656 11700614 IL18 interleukin 18 gene DOID:5082 liver cirrhosis ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:12462332|REF_RGD_ID:14695542 11700614 IL18 interleukin 18 gene DOID:5082 liver cirrhosis severity ISO RGD:730894 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;mRNA:increased expression:PBMC: PMID:19740312|REF_RGD_ID:14696656 11700614 IL18 interleukin 18 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:730894 D RGD:9068941 20200609 RGD associated with hepatitis C; protein:increased expression:serum: PMID:27927859|REF_RGD_ID:14696653 11700614 IL18 interleukin 18 gene DOID:526 human immunodeficiency virus infectious disease treatment ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:27927859|REF_RGD_ID:14696653 11700614 IL18 interleukin 18 gene DOID:552 pneumonia ISO RGD:2889 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung,bronchoalveolar fluid PMID:11739527|REF_RGD_ID:729357 11700614 IL18 interleukin 18 gene DOID:552 pneumonia ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11700614 IL18 interleukin 18 gene DOID:552 pneumonia ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15955140|REF_RGD_ID:4889836 11700614 IL18 interleukin 18 gene DOID:552 pneumonia ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:17400729|REF_RGD_ID:4889590 11700614 IL18 interleukin 18 gene DOID:552 pneumonia ISO RGD:730895 D RGD:9068941 20200609 RGD associated with reperfusion injury PMID:16052682|REF_RGD_ID:4889825 11700614 IL18 interleukin 18 gene DOID:5614 eye disease susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;DNA:SNP:promoter:-137G>C (rs187238) (human) PMID:16273766|REF_RGD_ID:8655910 11700614 IL18 interleukin 18 gene DOID:5844 myocardial infarction ameliorates ISO RGD:2889 D RGD:9068941 20230330 RGD PMID:33389498|REF_RGD_ID:242905187 11700614 IL18 interleukin 18 gene DOID:633 myositis treatment ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:16968394|REF_RGD_ID:8655903 11700614 IL18 interleukin 18 gene DOID:6432 pulmonary hypertension ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:17400729|REF_RGD_ID:4889590 11700614 IL18 interleukin 18 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:26893476|REF_RGD_ID:11538094 11700614 IL18 interleukin 18 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:730894 D RGD:9068941 20200609 RGD associated with hepatitis B, chronic;DNA:SNP:promoter:-607C>A(human) PMID:27470888|REF_RGD_ID:14696663 11700614 IL18 interleukin 18 gene DOID:684 hepatocellular carcinoma severity ISO RGD:730894 D RGD:9068941 20200609 RGD associated with hepatitis C;DNA:SNPs, haplotype:promoter:-607C>A, -137G>C(human) PMID:29341496|REF_RGD_ID:14695526 11700614 IL18 interleukin 18 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-137G>C(rs187238)(human) PMID:27429592|REF_RGD_ID:14695540 11700614 IL18 interleukin 18 gene DOID:7148 rheumatoid arthritis ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16368150 11700614 IL18 interleukin 18 gene DOID:769 neuroblastoma susceptibility ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:16428511|REF_RGD_ID:8655920 11700614 IL18 interleukin 18 gene DOID:83 cataract ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:18006521|REF_RGD_ID:8655879 11700614 IL18 interleukin 18 gene DOID:83 cataract ISO RGD:2889 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;mRNA:increased expression:lens PMID:21591858|REF_RGD_ID:8655881 11700614 IL18 interleukin 18 gene DOID:850 lung disease ISO RGD:730894 D RGD:9068941 20200609 RGD acute lung injury; associated with cardiac surgical procedures; DNA:polymorphism: : c. -607 C>G (human) PMID:20522205|REF_RGD_ID:4889548 11700614 IL18 interleukin 18 gene DOID:850 lung disease ISO RGD:730894 D RGD:9068941 20200609 RGD lung injury; protein:increased expression:lung PMID:19265174|REF_RGD_ID:4889574 11700614 IL18 interleukin 18 gene DOID:850 lung disease ISO RGD:730895 D RGD:9068941 20200609 RGD acute lung injury; associated with endotoxemia; PMID:19197224|REF_RGD_ID:4889576 11700614 IL18 interleukin 18 gene DOID:850 lung disease ISO RGD:730895 D RGD:9068941 20200609 RGD lung injury PMID:19265174|REF_RGD_ID:4889574 11700614 IL18 interleukin 18 gene DOID:8566 herpes simplex treatment ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:9971824|REF_RGD_ID:8655923 11700614 IL18 interleukin 18 gene DOID:865 vasculitis ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:19717152|REF_RGD_ID:4889401 11700614 IL18 interleukin 18 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:2889 D RGD:9068941 20200609 RGD protein:increased expression:ileum PMID:12032269|PMID:21240009|REF_RGD_ID:5490305|REF_RGD_ID:729222 11700614 IL18 interleukin 18 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:2889 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:12529262|REF_RGD_ID:4889473 11700614 IL18 interleukin 18 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:17947451|REF_RGD_ID:4889475 11700614 IL18 interleukin 18 gene DOID:874 bacterial pneumonia ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:17664259|REF_RGD_ID:4889913 11700614 IL18 interleukin 18 gene DOID:8893 psoriasis ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17611614|REF_RGD_ID:8655919 11700614 IL18 interleukin 18 gene DOID:8893 psoriasis treatment ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:22291810|REF_RGD_ID:8655900 11700614 IL18 interleukin 18 gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:24801815|REF_RGD_ID:11073600 11700614 IL18 interleukin 18 gene DOID:8947 diabetic retinopathy ISO RGD:730894 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum PMID:16260350|REF_RGD_ID:8655907 11700614 IL18 interleukin 18 gene DOID:8947 diabetic retinopathy ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:19011009|REF_RGD_ID:4889417 11700614 IL18 interleukin 18 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:18367607|REF_RGD_ID:2315889 11700614 IL18 interleukin 18 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:23140983|REF_RGD_ID:8655974 11700614 IL18 interleukin 18 gene DOID:9000081 Lymphatic Metastasis ISO RGD:730894 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:increased expression:serum PMID:12902898|REF_RGD_ID:8655867 11700614 IL18 interleukin 18 gene DOID:9000197 Edema ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:19497959|REF_RGD_ID:4889403 11700614 IL18 interleukin 18 gene DOID:9000386 Polyomavirus Infections ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 11700614 IL18 interleukin 18 gene DOID:9000528 Coronary Disease ISO RGD:730894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Three Vessel Coronary Disease 11700614 IL18 interleukin 18 gene DOID:9000641 Pain ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:19853379|REF_RGD_ID:2315887 11700614 IL18 interleukin 18 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:11766995|REF_RGD_ID:4889856 11700614 IL18 interleukin 18 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11121210 11700614 IL18 interleukin 18 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12748951 11700614 IL18 interleukin 18 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730894 D RGD:9068941 20200609 RGD associated with breast cancer;DNA:SNP:promoter:-137G>C (rs187238) (human) PMID:19152241|REF_RGD_ID:8655899 11700614 IL18 interleukin 18 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730894 D RGD:9068941 20200609 RGD associated with breast cancer;protein:increased expression:serum PMID:12209760|REF_RGD_ID:8655866 11700614 IL18 interleukin 18 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11215816|REF_RGD_ID:4889862 11700614 IL18 interleukin 18 gene DOID:9000998 Brain Injuries ISO RGD:2889 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:17188500|REF_RGD_ID:2315917 11700614 IL18 interleukin 18 gene DOID:9000998 Brain Injuries severity ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:17188500|REF_RGD_ID:2315917 11700614 IL18 interleukin 18 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:23000553|REF_RGD_ID:8655963 11700614 IL18 interleukin 18 gene DOID:9001488 Human Influenza ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:15606801|REF_RGD_ID:4889964 11700614 IL18 interleukin 18 gene DOID:9001547 Tibial Fractures ISO RGD:2889 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:19853379|REF_RGD_ID:2315887 11700614 IL18 interleukin 18 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11700614 IL18 interleukin 18 gene DOID:9001708 Hemorrhagic Shock ISO RGD:730895 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:23589298|REF_RGD_ID:14695541 11700614 IL18 interleukin 18 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:15770015|REF_RGD_ID:4889960 11700614 IL18 interleukin 18 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:25919765|REF_RGD_ID:14696667 11700614 IL18 interleukin 18 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:14999688|REF_RGD_ID:14696668 11700614 IL18 interleukin 18 gene DOID:9002211 Hyperalgesia treatment ISO RGD:2889 D RGD:9068941 20200609 RGD associated with Peripheral Nerve Injuries PMID:19036970|REF_RGD_ID:8655929 11700614 IL18 interleukin 18 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17688413 11700614 IL18 interleukin 18 gene DOID:9002433 Schistosomiasis Japonica treatment ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:19467215|REF_RGD_ID:14696662 11700614 IL18 interleukin 18 gene DOID:9002457 Experimental Arthritis ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:15147345|REF_RGD_ID:4889503 11700614 IL18 interleukin 18 gene DOID:9002457 Experimental Arthritis disease_progression ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:19096963|REF_RGD_ID:4889415 11700614 IL18 interleukin 18 gene DOID:9002498 Wallerian Degeneration ISO RGD:2889 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:macrophage, microglia: PMID:11494369|REF_RGD_ID:4889526 11700614 IL18 interleukin 18 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:9834127|REF_RGD_ID:4889543 11700614 IL18 interleukin 18 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2889 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:9846824|REF_RGD_ID:4889542 11700614 IL18 interleukin 18 gene DOID:9002798 Macrophage Activation Syndrome ISO RGD:730894 D RGD:9068941 20200609 RGD associated with Arthritis, Juvenile;protein:increased expression:serum PMID:20472718|REF_RGD_ID:8655917 11700614 IL18 interleukin 18 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22967010 11700614 IL18 interleukin 18 gene DOID:9002916 Hyperphagia ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:16732281|REF_RGD_ID:14695532 11700614 IL18 interleukin 18 gene DOID:9003036 Oral Lichen Planus ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human) PMID:17854431|REF_RGD_ID:8655868 11700614 IL18 interleukin 18 gene DOID:9003036 Oral Lichen Planus no_association ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, intron:-656G>T (rs1946519), 1248A>G (rs189667) (human) PMID:17854431|REF_RGD_ID:8655868 11700614 IL18 interleukin 18 gene DOID:9003657 Perennial Allergic Rhinitis susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:c. -607A>C (rs1946518) (human) PMID:16406079|REF_RGD_ID:4889924 11700614 IL18 interleukin 18 gene DOID:9003690 Carcinoma, Lewis Lung treatment ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:16767432|REF_RGD_ID:8655941 11700614 IL18 interleukin 18 gene DOID:9003871 Venous Thrombosis ISO RGD:2889 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22318348|REF_RGD_ID:8655957 11700614 IL18 interleukin 18 gene DOID:9003936 Cardiomegaly ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18660453 11700614 IL18 interleukin 18 gene DOID:9004009 Reperfusion Injury ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:19394645|REF_RGD_ID:4889555 11700614 IL18 interleukin 18 gene DOID:9004009 Reperfusion Injury ISO RGD:730895 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16052682|REF_RGD_ID:4889825 11700614 IL18 interleukin 18 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:19740312|REF_RGD_ID:14696656 11700614 IL18 interleukin 18 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-607C>A (rs1946518)(human) PMID:25198668|REF_RGD_ID:14696651 11700614 IL18 interleukin 18 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:730894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11700614 IL18 interleukin 18 gene DOID:9004118 Experimental Melanoma treatment ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:12230493|PMID:17411412|REF_RGD_ID:8655870|REF_RGD_ID:8655901 11700614 IL18 interleukin 18 gene DOID:9004283 Transplant Rejection ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:21962809|REF_RGD_ID:8655943 11700614 IL18 interleukin 18 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2889 D RGD:9068941 20200609 RGD associated with Myocardial Reperfusion Injury PMID:24223666|REF_RGD_ID:8655952 11700614 IL18 interleukin 18 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:21045270|REF_RGD_ID:4889546 11700614 IL18 interleukin 18 gene DOID:9004994 Embryo Loss ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:21920610|REF_RGD_ID:8655947 11700614 IL18 interleukin 18 gene DOID:9005236 Drug Eruptions ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18204966 11700614 IL18 interleukin 18 gene DOID:9005966 Staphylococcal Skin Infections treatment ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:21536791|REF_RGD_ID:8655921 11700614 IL18 interleukin 18 gene DOID:9006182 Carotid Artery Injuries ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:16864728|REF_RGD_ID:4889500 11700614 IL18 interleukin 18 gene DOID:9006182 Carotid Artery Injuries ISO RGD:2889 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery PMID:19955748|REF_RGD_ID:4889159 11700614 IL18 interleukin 18 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:22089199|REF_RGD_ID:8655971 11700614 IL18 interleukin 18 gene DOID:9006646 Metabolic Syndrome ISO RGD:2889 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19717152|REF_RGD_ID:4889401 11700614 IL18 interleukin 18 gene DOID:9006646 Metabolic Syndrome ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16644639 11700614 IL18 interleukin 18 gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:24456735|REF_RGD_ID:8655985 11700614 IL18 interleukin 18 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:12023376|REF_RGD_ID:8655931 11700614 IL18 interleukin 18 gene DOID:9007096 Stroke ISO RGD:2889 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:21171972|REF_RGD_ID:4891154 11700614 IL18 interleukin 18 gene DOID:9007356 Eczema ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon:multiple PMID:15806006|REF_RGD_ID:8655937 11700614 IL18 interleukin 18 gene DOID:9007364 Mouth Neoplasms ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24349532 11700614 IL18 interleukin 18 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19164858 11700614 IL18 interleukin 18 gene DOID:9007480 Hyperoxia ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:19672068|REF_RGD_ID:4889402 11700614 IL18 interleukin 18 gene DOID:9007692 Insulin Resistance ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:16732281|REF_RGD_ID:14695532 11700614 IL18 interleukin 18 gene DOID:9007692 Insulin Resistance treatment ISO RGD:730894 D RGD:9068941 20200609 RGD associated with Graves Disease PMID:23257837|REF_RGD_ID:8655938 11700614 IL18 interleukin 18 gene DOID:9007730 Burns ISO RGD:730895 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:19197224|REF_RGD_ID:4889576 11700614 IL18 interleukin 18 gene DOID:9007748 Retinal Neovascularization ISO RGD:730894 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina PMID:17562991|REF_RGD_ID:8655891 11700614 IL18 interleukin 18 gene DOID:9007748 Retinal Neovascularization ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:17234681|REF_RGD_ID:8655930 11700614 IL18 interleukin 18 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:19805173|REF_RGD_ID:4889400 11700614 IL18 interleukin 18 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:19164288|REF_RGD_ID:4889578 11700614 IL18 interleukin 18 gene DOID:9007874 Liver Failure treatment ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:23155311|REF_RGD_ID:8655993 11700614 IL18 interleukin 18 gene DOID:9008103 Seasonal Allergic Rhinitis no_association ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:promoters:multiple PMID:12532106|REF_RGD_ID:8655871 11700614 IL18 interleukin 18 gene DOID:9008103 Seasonal Allergic Rhinitis susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:promoters, exon:multiple PMID:12532106|REF_RGD_ID:8655871 11700614 IL18 interleukin 18 gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-607C>A(human) PMID:27470888|REF_RGD_ID:14696663 11700614 IL18 interleukin 18 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:730894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 11700614 IL18 interleukin 18 gene DOID:9008691 Liver Injury ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:24412291|REF_RGD_ID:14696652 11700614 IL18 interleukin 18 gene DOID:9008691 Liver Injury ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:21106643|REF_RGD_ID:8655972 11700614 IL18 interleukin 18 gene DOID:9008856 HIV-Associated Lipodystrophy Syndrome ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:15353983|REF_RGD_ID:8655934 11700614 IL18 interleukin 18 gene DOID:9008856 HIV-Associated Lipodystrophy Syndrome susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human) PMID:20331838|REF_RGD_ID:8655915 11700614 IL18 interleukin 18 gene DOID:9065 leishmaniasis ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16879623 11700614 IL18 interleukin 18 gene DOID:9065 leishmaniasis treatment ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:10768930|REF_RGD_ID:8655909 11700614 IL18 interleukin 18 gene DOID:9146 visceral leishmaniasis susceptibility ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:16879623|REF_RGD_ID:8655922 11700614 IL18 interleukin 18 gene DOID:9452 fatty liver disease ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:19084941|REF_RGD_ID:4889416 11700614 IL18 interleukin 18 gene DOID:9675 pulmonary emphysema ISO RGD:2889 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:respiratory system fluid/secretion, macrophage PMID:23392573|REF_RGD_ID:8655969 11700614 IL18 interleukin 18 gene DOID:9675 pulmonary emphysema ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:17400729|REF_RGD_ID:4889590 11700614 IL18 interleukin 18 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18359638|REF_RGD_ID:8655935 11700614 IL18 interleukin 18 gene DOID:986 alopecia areata susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon:-137G>C (rs187238), rs549908 (human) PMID:24446726|REF_RGD_ID:8655875 11700614 IL18 interleukin 18 gene DOID:9970 obesity ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:16732281|REF_RGD_ID:14695532 11700614 IL18 interleukin 18 gene DOID:9970 obesity treatment ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:20490358|REF_RGD_ID:7175343 11700630 SRBD1 S1 RNA binding domain 1 gene DOID:3883 Lynch syndrome ISO RGD:1602705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11700630 SRBD1 S1 RNA binding domain 1 gene DOID:630 genetic disease ISO RGD:1602705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11700656 OPHN1 oligophrenin 1 gene DOID:0050888 syndromic intellectual disability ISO RGD:1557080 D RGD:9068941 20220825 MouseDO OMIM:300486 | OMIM:300860 | OMIM:309583 11700656 OPHN1 oligophrenin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1345567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11700656 OPHN1 oligophrenin 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11700656 OPHN1 oligophrenin 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1345567 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:31474318 11700656 OPHN1 oligophrenin 1 gene DOID:0080311 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance ISO RGD:1345567 D RGD:7240710 20180130 OMIM 11700656 OPHN1 oligophrenin 1 gene DOID:0080311 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance ISO RGD:1345567 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BILLUART TYPE | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 60 PMID:10818214|PMID:12807966|PMID:16199547|PMID:16221952|PMID:18414213|PMID:20528889|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32238909|PMID:34906502|PMID:9582072 11700656 OPHN1 oligophrenin 1 gene DOID:1059 intellectual disability ISO RGD:1345567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11700656 OPHN1 oligophrenin 1 gene DOID:12849 autistic disorder ISO RGD:1345567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11700656 OPHN1 oligophrenin 1 gene DOID:14737 craniofrontonasal syndrome ISO RGD:1345567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17941886 11700656 OPHN1 oligophrenin 1 gene DOID:1826 epilepsy ISO RGD:1345567 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure 11700656 OPHN1 oligophrenin 1 gene DOID:630 genetic disease ISO RGD:1345567 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10818214|PMID:16221952|PMID:18414213|PMID:24105372|PMID:25741868|PMID:26467025|PMID:28492532 11700656 OPHN1 oligophrenin 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1345567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17941886 11700656 OPHN1 oligophrenin 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1345567 D RGD:9068941 20200609 RGD DNA:deletion:exon PMID:12805098|REF_RGD_ID:13207442 11700656 OPHN1 oligophrenin 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1345567 D RGD:9068941 20200609 RGD DNA:frameshift mutation:exon:p.P199_V200insEFSLLMNGLKIFIKCL (human) PMID:21796728|REF_RGD_ID:13207441 11700696 NBEA neurobeachin gene DOID:0060041 autism spectrum disorder ISO RGD:1323716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11700696 NBEA neurobeachin gene DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome ISO RGD:1323716 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome PMID:25741868 11700696 NBEA neurobeachin gene DOID:0112081 nuclear type mitochondrial complex I deficiency 8 ISO RGD:1323716 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 PMID:25741868 11700696 NBEA neurobeachin gene DOID:10534 stomach cancer severity ISO RGD:1323716 D RGD:9068941 20220616 RGD mRNA:altered expression:stomach tumor (human) PMID:28035468|REF_RGD_ID:152995287 11700696 NBEA neurobeachin gene DOID:1059 intellectual disability ISO RGD:1323716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11700696 NBEA neurobeachin gene DOID:12849 autistic disorder ISO RGD:1323716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:21681106|PMID:30208311 11700696 NBEA neurobeachin gene DOID:1826 epilepsy ISO RGD:1323716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868 11700696 NBEA neurobeachin gene DOID:2213 hemorrhagic disease ISO RGD:1323716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 11700696 NBEA neurobeachin gene DOID:630 genetic disease ISO RGD:1323716 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11700696 NBEA neurobeachin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11700696 NBEA neurobeachin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11700696 NBEA neurobeachin gene DOID:9004635 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY ISO RGD:1323716 D RGD:7240710 20210217 OMIM 11700696 NBEA neurobeachin gene DOID:9004635 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY ISO RGD:1323716 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: NBEA-related complex neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without early-onset generalized epilepsy PMID:25741868|PMID:28492532|PMID:30269351|PMID:34412939 11700696 NBEA neurobeachin gene DOID:9008086 Developmental Disabilities ISO RGD:1323716 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11700696 NBEA neurobeachin gene DOID:9008126 Cerebellar, Ocular, Craniofacial, and Genital Syndrome ISO RGD:1323716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar, ocular, craniofacial, and genital syndrome PMID:23374822|PMID:27075597|PMID:27103078|PMID:30487245 11700696 NBEA neurobeachin gene DOID:9008582 Developmental Disease ISO RGD:1323716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11700770 FUCA2 alpha-L-fucosidase 2 gene DOID:0080600 COVID-19 ISO RGD:1344103 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11700770 FUCA2 alpha-L-fucosidase 2 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1344103 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:28492532 11700770 FUCA2 alpha-L-fucosidase 2 gene DOID:630 genetic disease ISO RGD:1344103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11700770 FUCA2 alpha-L-fucosidase 2 gene DOID:9002189 High Myopia ISO RGD:1344103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11700781 CATSPER3 cation channel sperm associated 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313883 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11700781 CATSPER3 cation channel sperm associated 3 gene DOID:630 genetic disease ISO RGD:1313883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11700781 CATSPER3 cation channel sperm associated 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11700781 CATSPER3 cation channel sperm associated 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313883 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11700794 RHBDF2 rhomboid 5 homolog 2 gene DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome ISO RGD:1320182 D RGD:7240710 20180130 OMIM 11700794 RHBDF2 rhomboid 5 homolog 2 gene DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome ISO RGD:1320182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma-esophageal carcinoma syndrome PMID:13209063|PMID:22265016|PMID:22638770|PMID:25741868|PMID:28492532|PMID:8508402 11700794 RHBDF2 rhomboid 5 homolog 2 gene DOID:630 genetic disease ISO RGD:1320182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11700794 RHBDF2 rhomboid 5 homolog 2 gene DOID:687 hepatoblastoma ISO RGD:1320182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 11700818 PECR peroxisomal trans-2-enoyl-CoA reductase gene DOID:1059 intellectual disability ISO RGD:1603637 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11700818 PECR peroxisomal trans-2-enoyl-CoA reductase gene DOID:630 genetic disease ISO RGD:1603637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11700818 PECR peroxisomal trans-2-enoyl-CoA reductase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11700830 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1323132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 11700830 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:0060903 thrombosis ISO RGD:1323132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombus PMID:25741868|PMID:28492532 11700830 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1323132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11700830 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:0080177 hepatic veno-occlusive disease ISO RGD:1323132 D RGD:9068941 20200611 RGD protein:decreased activity:plasma (human) PMID:12040478|REF_RGD_ID:10449042 11700830 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1311594 D RGD:9068941 20200611 RGD mRNA, protein:increased expression, increased activity:liver, plasma (rat) PMID:19652891|REF_RGD_ID:2315953 11700830 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1323132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:12753286|PMID:17187257|PMID:17627784|PMID:23715102|PMID:25741868|PMID:28492532|PMID:28748566|PMID:28866379|PMID:30046676|PMID:32183147 11700830 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1323132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11700830 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1323132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11700830 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:0081097 Rafiq syndrome ISO RGD:1323132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11700830 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:1323132 D RGD:7240710 20200610 OMIM 11700830 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:1323132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombotic thrombocytopenic purpura | ClinVar Annotator: match by term: Upshaw-Schulman syndrome PMID:11563771|PMID:11586351|PMID:12181489|PMID:12393505|PMID:12434890|PMID:12576319|PMID:12614216|PMID:12753286|PMID:14512317|PMID:14563640|PMID:14597993|PMID:15009458|PMID:15126318|PMID:15521921|PMID:15800115|PMID:16160007|PMID:16388417|PMID:16453338|PMID:16597588|PMID:16796708|PMID:16807643|PMID:17003922|PMID:17187257|PMID:17576681|PMID:17627784|PMID:17849048|PMID:18031293|PMID:18443791|PMID:18481107|PMID:18581589|PMID:18665921|PMID:19047683|PMID:19055667|PMID:19786614|PMID:19847791|PMID:20647566|PMID:20886194|PMID:21488199|PMID:21676167|PMID:21781265|PMID:22289888|PMID:22529288|PMID:22547583|PMID:22768050|PMID:22783805|PMID:23058857|PMID:23208954|PMID:23346910|PMID:23621748|PMID:23648131|PMID:23715102|PMID:23847193|PMID:24033266|PMID:24433405|PMID:24859360|PMID:24936513|PMID:25442981|PMID:25741868|PMID:25934476|PMID:26081109|PMID:26139087|PMID:26342041|PMID:26352112|PMID:26566785|PMID:27132698|PMID:27427187|PMID:27802307|PMID:28492532|PMID:28678087|PMID:28748566|PMID:28866379|PMID:29554699|PMID:30046676|PMID:30312976|PMID:30792199|PMID:31064749|PMID:31971692|PMID:31980526|PMID:32183147|PMID:32496441|PMID:34355501|PMID:6433703|PMID:7094941|PMID:9536098 11700830 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:11247 disseminated intravascular coagulation ISO RGD:1323132 D RGD:9068941 20200611 RGD protein:decreased expression, decreased activity:plasma (human) PMID:16189276|REF_RGD_ID:10449048 11700830 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:13133 HELLP syndrome ISO RGD:1323132 D RGD:9068941 20200611 RGD protein:decreased activity:plasma (human) PMID:12969811|REF_RGD_ID:10449045 11700830 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:13580 cholestasis ISO RGD:1311594 D RGD:9068941 20200611 RGD mRNA, protein:increased expression, increased activity:liver, plasma (rat) PMID:19652891|REF_RGD_ID:2315953 11700830 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:14067 Plasmodium falciparum malaria ISO RGD:1323132 D RGD:9068941 20200611 RGD protein:decreased activity:plasma (human) PMID:20062916|REF_RGD_ID:10449041 11700830 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1323132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11700830 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:2213 hemorrhagic disease ISO RGD:1323132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 11700830 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:3652 Leigh disease ISO RGD:1323132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11700830 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:418 systemic scleroderma ISO RGD:1323132 D RGD:9068941 20200611 RGD protein:decreased expression:plasma (human) PMID:12935979|REF_RGD_ID:10449040 11700830 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:5082 liver cirrhosis severity ISO RGD:1323132 D RGD:9068941 20200611 RGD protein:increased expression, increased activity:liver (rat) PMID:16689760|REF_RGD_ID:1598737 11700830 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:630 genetic disease ISO RGD:1323132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11700830 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:684 hepatocellular carcinoma ISO RGD:1323132 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11700830 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1323132 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:19260037 11700830 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:1323132 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:14625834|PMID:16388419 11700830 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:9000528 Coronary Disease ISO RGD:1323132 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Three Vessel Coronary Disease PMID:25741868|PMID:28492532 11700830 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:9001553 Spinal Cord Compression ISO RGD:1311594 D RGD:9068941 20200611 RGD mRNA, protein:increased expression, increased activity:spinal cord (rat) PMID:22425718|REF_RGD_ID:10449098 11700830 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:9002448 Thrombotic Thrombocytopenic Purpura, Acquired ISO RGD:1323132 D RGD:9068941 20200611 RGD PMID:9828246|REF_RGD_ID:10449039 11700830 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:9002448 Thrombotic Thrombocytopenic Purpura, Acquired treatment ISO RGD:1323132 D RGD:9068941 20200611 RGD human protein in a rat model PMID:26338302|REF_RGD_ID:10449097 11700830 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:9003871 Venous Thrombosis treatment ISO RGD:1311594 D RGD:9068941 20200611 RGD PMID:21095090|REF_RGD_ID:10449099 11700830 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:9007096 Stroke ISO RGD:1323132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:27802307|PMID:28492532 11700830 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:9074 systemic lupus erythematosus ISO RGD:1323132 D RGD:9068941 20200611 RGD protein:decreased expression:plasma (human) PMID:12935979|REF_RGD_ID:10449040 11700859 TMEM41B transmembrane protein 41B gene DOID:630 genetic disease ISO RGD:1347999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11700875 TGFB1 transforming growth factor beta 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29483653 11700875 TGFB1 transforming growth factor beta 1 gene DOID:0050589 inflammatory bowel disease treatment ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:28891831|REF_RGD_ID:14995457 11700875 TGFB1 transforming growth factor beta 1 gene DOID:0050697 chorioamnionitis severity ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:amniotic fluid PMID:19332995|REF_RGD_ID:4145137 11700875 TGFB1 transforming growth factor beta 1 gene DOID:0050777 Joubert syndrome ISO RGD:69095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11700875 TGFB1 transforming growth factor beta 1 gene DOID:0060224 atrial fibrillation ISO RGD:69095 D RGD:9068941 20230330 RGD associated with heart valve disease;protein:increased expression:right atrial myocardium PMID:33236535|REF_RGD_ID:242905189 11700875 TGFB1 transforming growth factor beta 1 gene DOID:0080000 muscular disease ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21152098 11700875 TGFB1 transforming growth factor beta 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69095 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:21664615|PMID:32613381 11700875 TGFB1 transforming growth factor beta 1 gene DOID:0080820 occupational asthma ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25721048 11700875 TGFB1 transforming growth factor beta 1 gene DOID:0081292 traumatic brain injury treatment ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:28433746|REF_RGD_ID:14995478 11700875 TGFB1 transforming growth factor beta 1 gene DOID:0111243 acromicric dysplasia ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 11700875 TGFB1 transforming growth factor beta 1 gene DOID:10140 dry eye syndrome ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22194977 11700875 TGFB1 transforming growth factor beta 1 gene DOID:10283 prostate cancer ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:1289674|REF_RGD_ID:7394822 11700875 TGFB1 transforming growth factor beta 1 gene DOID:10322 berylliosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15750822|PMID:17785866 11700875 TGFB1 transforming growth factor beta 1 gene DOID:10322 berylliosis severity ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-509C>T (human) PMID:17785866|REF_RGD_ID:4145294 11700875 TGFB1 transforming growth factor beta 1 gene DOID:10763 hypertension ISO RGD:69051 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus PMID:12771048|REF_RGD_ID:12879474 11700875 TGFB1 transforming growth factor beta 1 gene DOID:10763 hypertension ISO RGD:69051 D RGD:9068941 20200609 RGD protein:increased expression:vascular associated smooth muscle cell PMID:17364610|REF_RGD_ID:1601552 11700875 TGFB1 transforming growth factor beta 1 gene DOID:10763 hypertension ISO RGD:69051 D RGD:9068941 20200903 RGD mRNA:increased expression:kidney (SHRSP/A3N rat) PMID:11682445|PMID:11907153|REF_RGD_ID:28912746|REF_RGD_ID:30296650 11700875 TGFB1 transforming growth factor beta 1 gene DOID:10763 hypertension ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11682445|PMID:19018797 11700875 TGFB1 transforming growth factor beta 1 gene DOID:10923 sickle cell anemia ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:26928604|REF_RGD_ID:11062147 11700875 TGFB1 transforming growth factor beta 1 gene DOID:11168 anogenital venereal wart ISO RGD:69095 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 11700875 TGFB1 transforming growth factor beta 1 gene DOID:11204 allergic conjunctivitis treatment ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:16914468|REF_RGD_ID:11041889 11700875 TGFB1 transforming growth factor beta 1 gene DOID:11263 chlamydia treatment ISO RGD:69095 D RGD:9068941 20200807 RGD PMID:30832593|REF_RGD_ID:38455984 11700875 TGFB1 transforming growth factor beta 1 gene DOID:11335 sarcoidosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17785866 11700875 TGFB1 transforming growth factor beta 1 gene DOID:114 heart disease ISO RGD:69095 D RGD:9068941 20200609 RGD associated with pulmonary hypertension;mRNA:increased expression:lung, arteriole PMID:15938827|REF_RGD_ID:1601581 11700875 TGFB1 transforming growth factor beta 1 gene DOID:11476 osteoporosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12706579 11700875 TGFB1 transforming growth factor beta 1 gene DOID:11476 osteoporosis treatment ISO RGD:69051 D RGD:9068941 20200609 RGD associated with Uremia;protein:increased expression:osteoblast, osteoclast PMID:17647196|REF_RGD_ID:10003128 11700875 TGFB1 transforming growth factor beta 1 gene DOID:11664 nephrosclerosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 11700875 TGFB1 transforming growth factor beta 1 gene DOID:1168 familial hyperlipidemia ISO RGD:69051 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney cortex PMID:19001732|REF_RGD_ID:2306735 11700875 TGFB1 transforming growth factor beta 1 gene DOID:1168 familial hyperlipidemia treatment ISO RGD:69051 D RGD:9068941 20200609 RGD associated with Chronic Kidney Failure;mRNA:increased expression:kidney PMID:16834981|REF_RGD_ID:1601559 11700875 TGFB1 transforming growth factor beta 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641384 11700875 TGFB1 transforming growth factor beta 1 gene DOID:1184 nephrotic syndrome ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10515446|PMID:1281619|PMID:8023968 11700875 TGFB1 transforming growth factor beta 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:22134166|REF_RGD_ID:11073617 11700875 TGFB1 transforming growth factor beta 1 gene DOID:1205 allergic disease ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19138248|PMID:21625544 11700875 TGFB1 transforming growth factor beta 1 gene DOID:12134 factor VIII deficiency treatment ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:polymorphism: :869T>C(rs1982037)(human) PMID:25930091|REF_RGD_ID:11055683 11700875 TGFB1 transforming growth factor beta 1 gene DOID:12236 primary biliary cholangitis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 11700875 TGFB1 transforming growth factor beta 1 gene DOID:12306 vitiligo ISO RGD:69095 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:22342018|REF_RGD_ID:8663475 11700875 TGFB1 transforming growth factor beta 1 gene DOID:12361 Graves' disease ISO RGD:69095 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 11700875 TGFB1 transforming growth factor beta 1 gene DOID:12449 aplastic anemia severity ISO RGD:69095 D RGD:9068941 20200609 RGD protein:decreased expression: : PMID:24028718|REF_RGD_ID:11073606 11700875 TGFB1 transforming growth factor beta 1 gene DOID:12449 aplastic anemia susceptibility ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:polymorphism: :509C>T(human) PMID:24362456|REF_RGD_ID:11073601 11700875 TGFB1 transforming growth factor beta 1 gene DOID:12577 urethral obstruction treatment ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:24066596|REF_RGD_ID:7394856 11700875 TGFB1 transforming growth factor beta 1 gene DOID:12894 Sjogren's syndrome ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:9358754|REF_RGD_ID:7394829 11700875 TGFB1 transforming growth factor beta 1 gene DOID:12894 Sjogren's syndrome ISO RGD:69096 D RGD:9068941 20220825 MouseDO OMIM:270150 11700875 TGFB1 transforming growth factor beta 1 gene DOID:12894 Sjogren's syndrome severity ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:7554451|REF_RGD_ID:7394845 11700875 TGFB1 transforming growth factor beta 1 gene DOID:12932 endomyocardial fibrosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25450231 11700875 TGFB1 transforming growth factor beta 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16191423|PMID:18682491|PMID:20493835 11700875 TGFB1 transforming growth factor beta 1 gene DOID:13141 uveitis treatment ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:9008650|REF_RGD_ID:7394815 11700875 TGFB1 transforming growth factor beta 1 gene DOID:13241 Behcet's disease ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:exon (human) PMID:21640045|REF_RGD_ID:5147902 11700875 TGFB1 transforming growth factor beta 1 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:24399159|REF_RGD_ID:11073604 11700875 TGFB1 transforming growth factor beta 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:69095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11700875 TGFB1 transforming growth factor beta 1 gene DOID:13406 pulmonary sarcoidosis severity ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-509C>T (human) PMID:17785866|REF_RGD_ID:4145294 11700875 TGFB1 transforming growth factor beta 1 gene DOID:13413 hepatic encephalopathy treatment ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:30940161|REF_RGD_ID:14995440 11700875 TGFB1 transforming growth factor beta 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:69095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11700875 TGFB1 transforming growth factor beta 1 gene DOID:13608 biliary atresia treatment ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:30686515|REF_RGD_ID:14985228 11700875 TGFB1 transforming growth factor beta 1 gene DOID:13619 extrahepatic cholestasis ISO RGD:69095 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:28789951|PMID:30026087|PMID:31932644 11700875 TGFB1 transforming growth factor beta 1 gene DOID:13922 eosinophilic esophagitis ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:24486052|REF_RGD_ID:11073602 11700875 TGFB1 transforming growth factor beta 1 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 11700875 TGFB1 transforming growth factor beta 1 gene DOID:1485 cystic fibrosis ISO RGD:69095 D RGD:7240710 20180130 OMIM 11700875 TGFB1 transforming growth factor beta 1 gene DOID:1485 cystic fibrosis ISO RGD:69095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:16207846|PMID:17293864|PMID:18292811|PMID:18424453|PMID:25741868|PMID:28492532 11700875 TGFB1 transforming growth factor beta 1 gene DOID:1520 colon carcinoma disease_progression ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:11166150|REF_RGD_ID:13432074 11700875 TGFB1 transforming growth factor beta 1 gene DOID:1532 pleural disease ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24142982 11700875 TGFB1 transforming growth factor beta 1 gene DOID:1555 urticaria ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19138248 11700875 TGFB1 transforming growth factor beta 1 gene DOID:1588 thrombocytopenia ISO RGD:69096 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:22134166|REF_RGD_ID:11073617 11700875 TGFB1 transforming growth factor beta 1 gene DOID:1612 breast cancer ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:7543740|REF_RGD_ID:7394794 11700875 TGFB1 transforming growth factor beta 1 gene DOID:1612 breast cancer disease_progression ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:18075785|REF_RGD_ID:7394832 11700875 TGFB1 transforming growth factor beta 1 gene DOID:1612 breast cancer no_association ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:polymorphism: :29T>C (human) PMID:20157775|REF_RGD_ID:7394854 11700875 TGFB1 transforming growth factor beta 1 gene DOID:1612 breast cancer no_association ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.L10P (human) PMID:17848193|REF_RGD_ID:7394853 11700875 TGFB1 transforming growth factor beta 1 gene DOID:1612 breast cancer severity ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNP: :rs1982073 (human) PMID:20640597|REF_RGD_ID:7394846 11700875 TGFB1 transforming growth factor beta 1 gene DOID:1612 breast cancer susceptibility ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-509 C>T (human) PMID:20232138|REF_RGD_ID:7394850 11700875 TGFB1 transforming growth factor beta 1 gene DOID:1612 breast cancer treatment ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:2021547|REF_RGD_ID:7394824 11700875 TGFB1 transforming growth factor beta 1 gene DOID:1724 duodenal ulcer ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12868675 11700875 TGFB1 transforming growth factor beta 1 gene DOID:1749 squamous cell carcinoma ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20852150 11700875 TGFB1 transforming growth factor beta 1 gene DOID:1793 pancreatic cancer ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23992306 11700875 TGFB1 transforming growth factor beta 1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:18787407|REF_RGD_ID:2325015 11700875 TGFB1 transforming growth factor beta 1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16933058|REF_RGD_ID:2325018 11700875 TGFB1 transforming growth factor beta 1 gene DOID:182 calcinosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24142982 11700875 TGFB1 transforming growth factor beta 1 gene DOID:1826 epilepsy ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29483653 11700875 TGFB1 transforming growth factor beta 1 gene DOID:1875 impotence ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:27051243|REF_RGD_ID:14995446 11700875 TGFB1 transforming growth factor beta 1 gene DOID:1875 impotence ISO RGD:69051 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:penis PMID:18778311|REF_RGD_ID:2306738 11700875 TGFB1 transforming growth factor beta 1 gene DOID:2048 autoimmune hepatitis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 11700875 TGFB1 transforming growth factor beta 1 gene DOID:219 colon cancer treatment ISO RGD:69051 D RGD:9068941 20210611 RGD PMID:33360052|REF_RGD_ID:127229954 11700875 TGFB1 transforming growth factor beta 1 gene DOID:2224 essential thrombocythemia ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15682418 11700875 TGFB1 transforming growth factor beta 1 gene DOID:2256 osteochondrodysplasia susceptibility ISO RGD:69095 D RGD:9068941 20200609 RGD Camurati-Engelmann Syndrome, OMIM:131300;DNA:missense mutations: :p.R218H, p.R218C, p.C225R (human) PMID:10973241|REF_RGD_ID:1601550 11700875 TGFB1 transforming growth factor beta 1 gene DOID:2316 brain ischemia ISO RGD:69051 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:14997937|REF_RGD_ID:2302105 11700875 TGFB1 transforming growth factor beta 1 gene DOID:234 colon adenocarcinoma disease_progression ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:9019169|REF_RGD_ID:13432089 11700875 TGFB1 transforming growth factor beta 1 gene DOID:2340 craniosynostosis ISO RGD:69095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11700875 TGFB1 transforming growth factor beta 1 gene DOID:2349 arteriosclerosis ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:16733295|REF_RGD_ID:1580959 11700875 TGFB1 transforming growth factor beta 1 gene DOID:2615 papilloma ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20172950 11700875 TGFB1 transforming growth factor beta 1 gene DOID:2615 papilloma disease_progression ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:7954410|REF_RGD_ID:7394796 11700875 TGFB1 transforming growth factor beta 1 gene DOID:2841 asthma ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:18366906|REF_RGD_ID:4145280 11700875 TGFB1 transforming growth factor beta 1 gene DOID:2841 asthma ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16365456|PMID:19138248 11700875 TGFB1 transforming growth factor beta 1 gene DOID:2841 asthma ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNP:cds:915G>C (human) PMID:19046298|REF_RGD_ID:4145142 11700875 TGFB1 transforming growth factor beta 1 gene DOID:2841 asthma ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon:multiple (human) PMID:19096005|REF_RGD_ID:4145143 11700875 TGFB1 transforming growth factor beta 1 gene DOID:2841 asthma ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:polymorphism: :-509C>T (human) PMID:18711258|PMID:19222424|REF_RGD_ID:4143443|REF_RGD_ID:4145299 11700875 TGFB1 transforming growth factor beta 1 gene DOID:2841 asthma ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19317336|REF_RGD_ID:4145139 11700875 TGFB1 transforming growth factor beta 1 gene DOID:2841 asthma ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:19620629|REF_RGD_ID:4145132 11700875 TGFB1 transforming growth factor beta 1 gene DOID:2841 asthma ISO RGD:69096 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:20485865|REF_RGD_ID:4145113 11700875 TGFB1 transforming growth factor beta 1 gene DOID:2841 asthma no_association ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNP:cds:915G>C (human) PMID:19533439|REF_RGD_ID:4145297 11700875 TGFB1 transforming growth factor beta 1 gene DOID:2841 asthma no_association ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple (human) PMID:19136038|REF_RGD_ID:4145144 11700875 TGFB1 transforming growth factor beta 1 gene DOID:2841 asthma onset ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNP: :-509C>T (human) PMID:17673695|REF_RGD_ID:4145295 11700875 TGFB1 transforming growth factor beta 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:69051 D RGD:9068941 20200702 RGD protein:increased expression:serum, bronchoalveolar Lavage fluid (rat) PMID:16409721|REF_RGD_ID:32726073 11700875 TGFB1 transforming growth factor beta 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:69095 D RGD:9068941 20200702 RGD protein:increased expression:serum (human) PMID:15271897|REF_RGD_ID:32716401 11700875 TGFB1 transforming growth factor beta 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11728950 11700875 TGFB1 transforming growth factor beta 1 gene DOID:299 adenocarcinoma ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17418594 11700875 TGFB1 transforming growth factor beta 1 gene DOID:3021 acute kidney failure ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10469268 11700875 TGFB1 transforming growth factor beta 1 gene DOID:305 carcinoma ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12417722 11700875 TGFB1 transforming growth factor beta 1 gene DOID:3082 interstitial lung disease ISO RGD:69095 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid;protein:increased expression:serum PMID:18846962|REF_RGD_ID:4145270 11700875 TGFB1 transforming growth factor beta 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:18269849|REF_RGD_ID:4145292 11700875 TGFB1 transforming growth factor beta 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16365456|PMID:31349846 11700875 TGFB1 transforming growth factor beta 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19186046|REF_RGD_ID:4145140 11700875 TGFB1 transforming growth factor beta 1 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:polymorphisms: :509C>T, 869T>C (human) PMID:19186046|REF_RGD_ID:4145140 11700875 TGFB1 transforming growth factor beta 1 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNP:exon:869T>C (human) PMID:20193474|REF_RGD_ID:4145115 11700875 TGFB1 transforming growth factor beta 1 gene DOID:3227 tracheal stenosis susceptibility ISO RGD:69095 D RGD:9068941 20200609 RGD associated with Ventilator-Induced Lung Injury;DNA:polymorphism: :-509C>T (human) PMID:20172396|REF_RGD_ID:4145116 11700875 TGFB1 transforming growth factor beta 1 gene DOID:3310 atopic dermatitis ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:11496247|REF_RGD_ID:7394812 11700875 TGFB1 transforming growth factor beta 1 gene DOID:3407 carotid artery disease ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:17119348|REF_RGD_ID:1601556 11700875 TGFB1 transforming growth factor beta 1 gene DOID:3498 pancreatic ductal adenocarcinoma ameliorates ISO RGD:69095 D RGD:9068941 20221027 RGD protein:decreased expression:pancreas (human) PMID:8253361|REF_RGD_ID:155630628 11700875 TGFB1 transforming growth factor beta 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:31409163|REF_RGD_ID:14995477 11700875 TGFB1 transforming growth factor beta 1 gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:69096 D RGD:9068941 20230330 RGD PMID:28630232|REF_RGD_ID:242905192 11700875 TGFB1 transforming growth factor beta 1 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:16101174|REF_RGD_ID:2325019 11700875 TGFB1 transforming growth factor beta 1 gene DOID:3770 pulmonary fibrosis ISO RGD:69051 D RGD:9068941 20200609 RGD associated with Silicosis PMID:19439069|REF_RGD_ID:2307220 11700875 TGFB1 transforming growth factor beta 1 gene DOID:3770 pulmonary fibrosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15286001|PMID:16324872|PMID:16365456|PMID:17266442|PMID:19817698|PMID:24762191|PMID:26817844 11700875 TGFB1 transforming growth factor beta 1 gene DOID:3770 pulmonary fibrosis ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:18403781|REF_RGD_ID:4145279 11700875 TGFB1 transforming growth factor beta 1 gene DOID:3770 pulmonary fibrosis ISO RGD:69096 D RGD:9068941 20200609 RGD associated with Asthma PMID:19542246|REF_RGD_ID:4145133 11700875 TGFB1 transforming growth factor beta 1 gene DOID:3770 pulmonary fibrosis ISO RGD:69096 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20833968|REF_RGD_ID:4145112 11700875 TGFB1 transforming growth factor beta 1 gene DOID:3770 pulmonary fibrosis ISO RGD:69096 D RGD:9068941 20200619 RGD associated with Middle East respiratory syndrome;mRNA:increased expression:lung PMID:31838832|REF_RGD_ID:30309204 11700875 TGFB1 transforming growth factor beta 1 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:26822530|REF_RGD_ID:14995444 11700875 TGFB1 transforming growth factor beta 1 gene DOID:3892 insulinoma ISO RGD:69095 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:pancreatic islet PMID:18058603|REF_RGD_ID:2325017 11700875 TGFB1 transforming growth factor beta 1 gene DOID:4236 carcinosarcoma ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15132766 11700875 TGFB1 transforming growth factor beta 1 gene DOID:4450 renal cell carcinoma ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:26749573|REF_RGD_ID:11560966 11700875 TGFB1 transforming growth factor beta 1 gene DOID:4450 renal cell carcinoma ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood PMID:25499257|REF_RGD_ID:13506175 11700875 TGFB1 transforming growth factor beta 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:26631499|REF_RGD_ID:13506173 11700875 TGFB1 transforming growth factor beta 1 gene DOID:4481 allergic rhinitis treatment ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:31368266|REF_RGD_ID:14995445 11700875 TGFB1 transforming growth factor beta 1 gene DOID:4483 rhinitis ISO RGD:69095 D RGD:9068941 20200609 RGD associated with Sinusitis PMID:18423831|REF_RGD_ID:4145277 11700875 TGFB1 transforming growth factor beta 1 gene DOID:4676 uremia ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 11700875 TGFB1 transforming growth factor beta 1 gene DOID:4947 cholangiocarcinoma ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:12632524|REF_RGD_ID:1299231 11700875 TGFB1 transforming growth factor beta 1 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:16083599|REF_RGD_ID:2325020 11700875 TGFB1 transforming growth factor beta 1 gene DOID:4971 myelofibrosis ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:plasma,bone marrow: PMID:23462118|REF_RGD_ID:11073609 11700875 TGFB1 transforming growth factor beta 1 gene DOID:4971 myelofibrosis ISO RGD:69096 D RGD:9068941 20200609 RGD mRNA:increased expression:spleen,bone marrow: PMID:23462118|REF_RGD_ID:11073609 11700875 TGFB1 transforming growth factor beta 1 gene DOID:4971 myelofibrosis treatment ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:23462118|REF_RGD_ID:11073609 11700875 TGFB1 transforming growth factor beta 1 gene DOID:4997 Camurati-Engelmann disease ISO RGD:69095 D RGD:7240710 20180130 OMIM 11700875 TGFB1 transforming growth factor beta 1 gene DOID:4997 Camurati-Engelmann disease ISO RGD:69095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diaphyseal dysplasia PMID:10973241|PMID:11062463|PMID:11278244|PMID:12843182|PMID:15103729|PMID:15326622|PMID:16207846|PMID:17293864|PMID:18292811|PMID:18424453|PMID:19584867|PMID:20308061|PMID:23846138|PMID:25099136|PMID:25741868|PMID:28492532|PMID:30034812 11700875 TGFB1 transforming growth factor beta 1 gene DOID:5082 liver cirrhosis ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:30686515|REF_RGD_ID:14985228 11700875 TGFB1 transforming growth factor beta 1 gene DOID:5082 liver cirrhosis ISO RGD:69095 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:21037076|PMID:35101388|PMID:36368619 11700875 TGFB1 transforming growth factor beta 1 gene DOID:5199 ureteral obstruction ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17164399 11700875 TGFB1 transforming growth factor beta 1 gene DOID:552 pneumonia ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11700875 TGFB1 transforming growth factor beta 1 gene DOID:552 pneumonia ISO RGD:69096 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19965809|REF_RGD_ID:4145120 11700875 TGFB1 transforming growth factor beta 1 gene DOID:552 pneumonia severity ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:19181604|REF_RGD_ID:4145141 11700875 TGFB1 transforming growth factor beta 1 gene DOID:557 kidney disease ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11682445|PMID:14675041|PMID:18390891 11700875 TGFB1 transforming growth factor beta 1 gene DOID:57 aortic valve insufficiency ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 11700875 TGFB1 transforming growth factor beta 1 gene DOID:576 proteinuria ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12937228 11700875 TGFB1 transforming growth factor beta 1 gene DOID:576 proteinuria ameliorates ISO RGD:69051 D RGD:9068941 20210827 RGD PMID:23249995|REF_RGD_ID:13446413 11700875 TGFB1 transforming growth factor beta 1 gene DOID:5773 oral submucous fibrosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 11700875 TGFB1 transforming growth factor beta 1 gene DOID:5773 oral submucous fibrosis ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:10680515|REF_RGD_ID:7394849 11700875 TGFB1 transforming growth factor beta 1 gene DOID:5844 myocardial infarction ISO RGD:69051 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:heart: PMID:27121011|REF_RGD_ID:11073666 11700875 TGFB1 transforming growth factor beta 1 gene DOID:5844 myocardial infarction ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16310260 11700875 TGFB1 transforming growth factor beta 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:69095 D RGD:9068941 20200609 RGD associated with Coronary Disease;DNA:polymorphism:promoter:-509C>T (human) PMID:16543493|REF_RGD_ID:1601560 11700875 TGFB1 transforming growth factor beta 1 gene DOID:585 nephrolithiasis treatment ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:24712822|REF_RGD_ID:11073675 11700875 TGFB1 transforming growth factor beta 1 gene DOID:630 genetic disease ISO RGD:69095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11700875 TGFB1 transforming growth factor beta 1 gene DOID:6432 pulmonary hypertension ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:19324949|REF_RGD_ID:4145138 11700875 TGFB1 transforming growth factor beta 1 gene DOID:6432 pulmonary hypertension onset ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:18496036|REF_RGD_ID:4145273 11700875 TGFB1 transforming growth factor beta 1 gene DOID:674 cleft palate ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25450421 11700875 TGFB1 transforming growth factor beta 1 gene DOID:684 hepatocellular carcinoma ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9029167 11700875 TGFB1 transforming growth factor beta 1 gene DOID:684 hepatocellular carcinoma ISO RGD:69096 D RGD:9068941 20210702 RGD mRNA:increased expression:liver (mouse) PMID:28100771|REF_RGD_ID:127285675 11700875 TGFB1 transforming growth factor beta 1 gene DOID:783 end stage renal disease ISO RGD:69051 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:10919844|REF_RGD_ID:7394838 11700875 TGFB1 transforming growth factor beta 1 gene DOID:783 end stage renal disease ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 11700875 TGFB1 transforming growth factor beta 1 gene DOID:8398 osteoarthritis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30664745 11700875 TGFB1 transforming growth factor beta 1 gene DOID:8472 localized scleroderma ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:7510487|REF_RGD_ID:7394847 11700875 TGFB1 transforming growth factor beta 1 gene DOID:850 lung disease ISO RGD:69051 D RGD:9068941 20200609 RGD Acute Lung Injury;mRNA, protein:increased expression:lung, plasma PMID:19639047|REF_RGD_ID:4145127 11700875 TGFB1 transforming growth factor beta 1 gene DOID:850 lung disease ISO RGD:69051 D RGD:9068941 20200609 RGD associated with Endotoxemia;mRNA, protein:increased expression:lung PMID:19941153|REF_RGD_ID:4145122 11700875 TGFB1 transforming growth factor beta 1 gene DOID:850 lung disease ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11472967 11700875 TGFB1 transforming growth factor beta 1 gene DOID:850 lung disease ISO RGD:69095 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:SNPs: :rs1800469, rs1982073, rs8179181 (human PMID:18424453|REF_RGD_ID:4145276 11700875 TGFB1 transforming growth factor beta 1 gene DOID:850 lung disease severity ISO RGD:69095 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:SNP:exon:869T>C (human) PMID:19466271|REF_RGD_ID:4144796 11700875 TGFB1 transforming growth factor beta 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:29951173|REF_RGD_ID:13782079 11700875 TGFB1 transforming growth factor beta 1 gene DOID:8616 Peyronie's disease ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14996430 11700875 TGFB1 transforming growth factor beta 1 gene DOID:874 bacterial pneumonia severity ISO RGD:69096 D RGD:9068941 20200820 RGD PMID:25398094|REF_RGD_ID:38501102 11700875 TGFB1 transforming growth factor beta 1 gene DOID:8866 actinic keratosis ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:9274625|REF_RGD_ID:7394827 11700875 TGFB1 transforming growth factor beta 1 gene DOID:8893 psoriasis severity ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15072741|REF_RGD_ID:7394851 11700875 TGFB1 transforming growth factor beta 1 gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:69095 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:24763013|REF_RGD_ID:11073603 11700875 TGFB1 transforming growth factor beta 1 gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:69095 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:24801815|REF_RGD_ID:11073600 11700875 TGFB1 transforming growth factor beta 1 gene DOID:8924 autoimmune thrombocytopenic purpura disease_progression ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:11886393|REF_RGD_ID:11073598 11700875 TGFB1 transforming growth factor beta 1 gene DOID:90 degenerative disc disease ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21351055 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9000011 Gallbladder Neoplasms susceptibility ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:polymorphism: : -509C>T (human) PMID:18571008|REF_RGD_ID:2317641 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:15145083|REF_RGD_ID:2302103 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9000784 Fibrosis ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:26923362|REF_RGD_ID:11073665 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9000784 Fibrosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10469268|PMID:16306446|PMID:17947678|PMID:18705752|PMID:24142982|PMID:26054450|PMID:27870162|PMID:30809271 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9000784 Fibrosis ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:2054795|PMID:9389733|REF_RGD_ID:737732|REF_RGD_ID:7394820 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23146760|PMID:23992306|PMID:26896736|PMID:31381904 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9001074 Posterior Leukoencephalopathy Syndrome ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29483653 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9001472 Nasal Polyps ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:12761968|REF_RGD_ID:7394830 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9001472 Nasal Polyps ISO RGD:69095 D RGD:9068941 20200609 RGD associated with Rhinitis PMID:18423831|REF_RGD_ID:4145277 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9001472 Nasal Polyps ISO RGD:69095 D RGD:9068941 20200609 RGD mRNA:decreased expression:nasal cavity epithelium PMID:23406597|REF_RGD_ID:7394852 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69051 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:16009107|REF_RGD_ID:1601595 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12586293|PMID:15772939|PMID:16579972|PMID:26806094|PMID:27605418 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69096 D RGD:9068941 20201023 RGD mRNA:increased expression:liver (mouse) PMID:28465467|REF_RGD_ID:39939037 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9001573 Experimental Liver Cirrhosis onset ISO RGD:69051 D RGD:9068941 20200609 RGD associated with extrahepatic cholestasis PMID:30243650|REF_RGD_ID:14985234 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:30092114|REF_RGD_ID:14985231 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:27528511|REF_RGD_ID:14995475 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:69096 D RGD:9068941 20200609 RGD associated with Chemical and Drug Induced Liver Injury PMID:28390311|REF_RGD_ID:14985232 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9001600 Wounds and Injuries ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:17117936|REF_RGD_ID:2302090 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9001600 Wounds and Injuries ISO RGD:69051 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:12533868|REF_RGD_ID:2292211 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18682491|PMID:19960420 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69096 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:19211686|REF_RGD_ID:2306734 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:69051 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24074026|REF_RGD_ID:7394855 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9002221 Hyperplasia ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20172950 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9002254 Dilatation, Pathologic ISO RGD:69095 D RGD:9068941 20200609 RGD associated with Coronary Arteriosclerosis;protein:increased expression:plasma PMID:17429295|REF_RGD_ID:1601551 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15159307|PMID:18082198 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9002350 Hereditary Hemorrhagic Telangiectasia, Type 1 ISO RGD:69095 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:15907823|REF_RGD_ID:11041166 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9002457 Experimental Arthritis ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:29763498|REF_RGD_ID:15036801 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:69095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9002488 Peritoneal Fibrosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199790 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:28190234|REF_RGD_ID:14985233 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9002498 Wallerian Degeneration ISO RGD:69051 D RGD:9068941 20200609 RGD mRNA:increased expression:optic (II) nerve, sciatic nerve PMID:14997937|REF_RGD_ID:2302105 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9002689 Spontaneous Neoplasm Regression ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11594583 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:69051 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:central nervous system PMID:17204936|REF_RGD_ID:2302088 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9003139 Cardiac Fibrosis ISO RGD:69051 D RGD:9068941 20200609 RGD protein:increased expression:heart: PMID:27108788|REF_RGD_ID:11073667 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9003139 Cardiac Fibrosis ISO RGD:69051 D RGD:9068941 20230225 RGD protein:increased expression:blood serum (rat) PMID:27318893|REF_RGD_ID:156430318 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9003139 Cardiac Fibrosis ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:22134166|REF_RGD_ID:11073617 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9003139 Cardiac Fibrosis ameliorates ISO RGD:69096 D RGD:9068941 20230330 RGD PMID:33236535|REF_RGD_ID:242905189 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9003548 Infant, Newborn, Diseases ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29483653 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9003867 Lymphomatoid Papulosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11594583 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9003936 Cardiomegaly ISO RGD:69051 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart PMID:15542404|REF_RGD_ID:1581939 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9004018 Paraquat Lung ISO RGD:69095 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung,serum: PMID:24535699|REF_RGD_ID:11073678 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9004250 Hepatic Insufficiency ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9004303 Tubulointerstitial Fibrosis ISO RGD:69051 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:15007308|REF_RGD_ID:1304308 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9004303 Tubulointerstitial Fibrosis ameliorates ISO RGD:69051 D RGD:9068941 20210827 RGD PMID:23249995|REF_RGD_ID:13446413 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9004364 Meckel Syndrome 10 ISO RGD:69095 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 10 PMID:16207846|PMID:17293864|PMID:18292811|PMID:18424453|PMID:25741868|PMID:28492532 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9004464 Skin Neoplasms ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8148055 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9004484 Sepsis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16003065 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:69095 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:23992306|PMID:24727557|PMID:24793912|PMID:25884904|PMID:26896736|PMID:32745479 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9004610 Acute Lung Injury ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16100012 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:69096 D RGD:9068941 20201022 RGD PMID:25278421|REF_RGD_ID:39939031 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10750555 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9005172 Lung Neoplasms ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11074608|PMID:11641043|PMID:17418594 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:8466857|REF_RGD_ID:7394797 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9005369 Hepatomegaly ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9005372 Inflammation ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19138248|PMID:20172950 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9005463 Occupational Diseases ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24142982 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69051 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:15855808|REF_RGD_ID:1601583 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17177138|PMID:23090186 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9005729 Chronic Experimental Pancreatitis ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:26645248|REF_RGD_ID:14995470 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9005968 Neuralgia treatment ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:24979268|REF_RGD_ID:11073677 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:69051 D RGD:9068941 20200609 RGD protein:increased expression:pulmonary artery PMID:17213961|REF_RGD_ID:1601553 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9006392 Anetoderma ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:9274625|REF_RGD_ID:7394827 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:69051 D RGD:9068941 20200609 RGD mRNA:increased expression:left heart ventricle PMID:18692559|REF_RGD_ID:2306739 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9007096 Stroke ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9007174 Ventricular Remodeling ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16635409 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9007332 Progressive Diaphyseal Dysplasia 1 ISO RGD:69095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diaphyseal dysplasia 1, progressive PMID:16207846|PMID:17293864|PMID:18292811|PMID:18424453|PMID:25741868|PMID:28492532 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9007346 Cachexia ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:2054795|REF_RGD_ID:7394820 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:27516150|REF_RGD_ID:14995464 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9007480 Hyperoxia ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:18353229|REF_RGD_ID:4145291 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9007480 Hyperoxia ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:18245268|REF_RGD_ID:4145293 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9007480 Hyperoxia ISO RGD:69096 D RGD:9068941 20200609 RGD protein:decreased activity:lung PMID:20220550|REF_RGD_ID:4145114 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9007588 Heart Injuries ameliorates ISO RGD:69096 D RGD:9068941 20230330 RGD associated with obesity PMID:32084395|REF_RGD_ID:242905211 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20172950 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:22913380|REF_RGD_ID:12903950 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :869C>T (rs1800470), 11929C>T (rs1800472) (human) PMID:28700046|REF_RGD_ID:14995436 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9008163 Chronic Hepatitis B no_association ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-509C>T (rs1800469) (human) PMID:28700046|REF_RGD_ID:14995436 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24836286 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9008510 Chronic Hepatitis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9008604 Radiation Pneumonitis ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:18411002|REF_RGD_ID:4145278 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9008604 Radiation Pneumonitis ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:19943923|REF_RGD_ID:4145121 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNP:exon:869T>C (rs1982073) (human) PMID:19380441|REF_RGD_ID:4145136 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:69051 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19635314|REF_RGD_ID:4145129 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10646786 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9009237 INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY ISO RGD:69095 D RGD:7240710 20190315 OMIM 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9009237 INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY ISO RGD:69095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease, immunodeficiency, and encephalopathy PMID:16207846|PMID:17293864|PMID:18292811|PMID:18424453|PMID:25741868|PMID:28492532|PMID:29483653 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9256 colorectal cancer ISO RGD:69095 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:12778073|REF_RGD_ID:13432088 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:15057430|REF_RGD_ID:13432086 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9269 maple syrup urine disease ISO RGD:69095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9351 diabetes mellitus ISO RGD:69095 D RGD:9068941 20220527 RGD associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:increased expression:lung (human) PMID:27411924|REF_RGD_ID:152975631 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69051 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:heart: PMID:24613393|REF_RGD_ID:11073674 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23500658 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:18646321|REF_RGD_ID:2306740 11700875 TGFB1 transforming growth factor beta 1 gene DOID:936 brain disease ISO RGD:69095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868|PMID:29483653 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9538 multiple myeloma ISO RGD:69095 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:22560388|REF_RGD_ID:11073614 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9538 multiple myeloma disease_progression ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:hypermethylation:: PMID:23699600|REF_RGD_ID:11073605 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9663 aphthous stomatitis ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-509T>C (human) PMID:27266194|REF_RGD_ID:14975145 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9675 pulmonary emphysema ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12634787 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9675 pulmonary emphysema severity ISO RGD:69095 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive;DNA:SNPs:promoter:rs1800469, rs1982073 (human) PMID:18670143|REF_RGD_ID:4145272 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9743 diabetic neuropathy ISO RGD:69051 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:dorsal root ganglion PMID:18406405|REF_RGD_ID:2302086 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9743 diabetic neuropathy ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16696316 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:18979373|REF_RGD_ID:2306737 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9970 obesity ISO RGD:69051 D RGD:9068941 20200609 RGD protein:increased expression:platelet PMID:16477387|REF_RGD_ID:1601561 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9970 obesity ISO RGD:69095 D RGD:9068941 20200609 RGD associated with hypertension;protein:increased expression:blood PMID:15944724|REF_RGD_ID:1601579 11700875 TGFB1 transforming growth factor beta 1 gene DOID:9970 obesity severity ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:adipose tissue PMID:16253647|REF_RGD_ID:1601563 11700886 RBM5 RNA binding motif protein 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 11700886 RBM5 RNA binding motif protein 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 11700886 RBM5 RNA binding motif protein 5 gene DOID:630 genetic disease ISO RGD:1312863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11700886 RBM5 RNA binding motif protein 5 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1312863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11700886 RBM5 RNA binding motif protein 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1312863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11700923 LOC100981677 cytochrome c oxidase subunit 7A2, mitochondrial gene DOID:630 genetic disease ISO RGD:1342607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11700931 LIMA1 LIM domain and actin binding 1 gene DOID:630 genetic disease ISO RGD:1602328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11700958 SHFL shiftless antiviral inhibitor of ribosomal frameshifting gene DOID:0070158 hereditary sensory neuropathy type 1E ISO RGD:1605065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory neuropathy type IE | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIA PMID:28492532 11700958 SHFL shiftless antiviral inhibitor of ribosomal frameshifting gene DOID:630 genetic disease ISO RGD:1605065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11700990 EPCAM epithelial cell adhesion molecule gene DOID:0060776 congenital diarrhea 5 with tufting enteropathy ISO RGD:1345999 D RGD:7240710 20180130 OMIM 11700990 EPCAM epithelial cell adhesion molecule gene DOID:0060776 congenital diarrhea 5 with tufting enteropathy ISO RGD:1345999 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital diarrhea 5 with tufting enteropathy | ClinVar Annotator: match by term: Congenital tufting enteropathy PMID:15849733|PMID:16199547|PMID:18572020|PMID:19098912|PMID:19455606|PMID:19820410|PMID:20034091|PMID:20981223|PMID:21315192|PMID:23264089|PMID:23462293|PMID:23938213|PMID:24033266|PMID:24142340|PMID:24337010|PMID:25637381|PMID:25741868|PMID:28361844|PMID:28492532|PMID:28701297|PMID:36988593 11700990 EPCAM epithelial cell adhesion molecule gene DOID:0070223 progressive familial intrahepatic cholestasis 3 ISO RGD:1345999 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Low Gamma-GT Familial Intrahepatic Cholestasis PMID:25741868|PMID:28492532 11700990 EPCAM epithelial cell adhesion molecule gene DOID:0070270 hereditary nonpolyposis colorectal cancer type 8 ISO RGD:1345999 D RGD:7240710 20180130 OMIM 11700990 EPCAM epithelial cell adhesion molecule gene DOID:0070270 hereditary nonpolyposis colorectal cancer type 8 ISO RGD:1345999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 8 PMID:16951683|PMID:19098912|PMID:25741868|PMID:28492532 11700990 EPCAM epithelial cell adhesion molecule gene DOID:0070271 Lynch syndrome 1 ISO RGD:1345999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:24033266|PMID:25741868|PMID:28492532 11700990 EPCAM epithelial cell adhesion molecule gene DOID:10534 stomach cancer ISO RGD:1345999 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:18572020|PMID:20034091|PMID:23462293|PMID:36988593 11700990 EPCAM epithelial cell adhesion molecule gene DOID:1520 colon carcinoma ISO RGD:1345999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon 11700990 EPCAM epithelial cell adhesion molecule gene DOID:1793 pancreatic cancer ISO RGD:1345999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17446842 11700990 EPCAM epithelial cell adhesion molecule gene DOID:2394 ovarian cancer ISO RGD:1345999 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 11700990 EPCAM epithelial cell adhesion molecule gene DOID:305 carcinoma ISO RGD:1345999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11700990 EPCAM epithelial cell adhesion molecule gene DOID:3525 middle cerebral artery infarction ISO RGD:621365 D RGD:9068941 20200609 RGD PMID:15950761|REF_RGD_ID:11038820 11700990 EPCAM epithelial cell adhesion molecule gene DOID:3883 Lynch syndrome ISO RGD:1345999 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:11830542|PMID:11857745|PMID:12373605|PMID:14729822|PMID:14871915|PMID:15713769|PMID:15849733|PMID:15870828|PMID:15942939|PMID:16086322|PMID:16142001|PMID:16143124|PMID:16199547|PMID:16736289|PMID:16941473|PMID:17250661|PMID:17576681|PMID:18307539|PMID:18572020|PMID:19098912|PMID:19177550|PMID:19250818|PMID:19455606|PMID:19526325|PMID:19930554|PMID:20034091|PMID:20587412|PMID:20591884|PMID:20864635|PMID:20981223|PMID:21145788|PMID:21227399|PMID:21309036|PMID:21315192|PMID:21642682|PMID:21791569|PMID:22243433|PMID:22283331|PMID:22658618|PMID:22883484|PMID:23264089|PMID:23454724|PMID:23462293|PMID:23801599|PMID:23938213|PMID:24033266|PMID:24142340|PMID:24244552|PMID:24323032|PMID:24337010|PMID:24362816|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25759555|PMID:25980754|PMID:26530882|PMID:27064304|PMID:27144940|PMID:28361844|PMID:28492532|PMID:28701297|PMID:30374176|PMID:9536098|PMID:9843200 11700990 EPCAM epithelial cell adhesion molecule gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1345999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:32566746 11700990 EPCAM epithelial cell adhesion molecule gene DOID:630 genetic disease ISO RGD:1345999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11700990 EPCAM epithelial cell adhesion molecule gene DOID:684 hepatocellular carcinoma severity ISO RGD:1345999 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:24616575|REF_RGD_ID:14695007 11700990 EPCAM epithelial cell adhesion molecule gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1345999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11700990 EPCAM epithelial cell adhesion molecule gene DOID:9000965 Neoplasm Metastasis ISO RGD:621365 D RGD:9068941 20200609 RGD PMID:23390083|REF_RGD_ID:9685143 11700990 EPCAM epithelial cell adhesion molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11700990 EPCAM epithelial cell adhesion molecule gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11700990 EPCAM epithelial cell adhesion molecule gene DOID:9002762 Ovarian Neoplasms ISO RGD:1345999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20870202 11700990 EPCAM epithelial cell adhesion molecule gene DOID:9002928 Colonic Neoplasms ISO RGD:1345999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colonic neoplasm 11700990 EPCAM epithelial cell adhesion molecule gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1345999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11700990 EPCAM epithelial cell adhesion molecule gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 11701003 MAGOH mago homolog, exon junction complex subunit gene DOID:630 genetic disease ISO RGD:1313047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11701020 EMILIN1 elastin microfibril interfacer 1 gene DOID:0050645 arterial tortuosity syndrome ISO RGD:1322548 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Arterial tortuosity PMID:28492532 11701020 EMILIN1 elastin microfibril interfacer 1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1322548 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11701020 EMILIN1 elastin microfibril interfacer 1 gene DOID:10283 prostate cancer ISO RGD:1322548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11701020 EMILIN1 elastin microfibril interfacer 1 gene DOID:10763 hypertension ISO RGD:1322549 D RGD:9068941 20200609 RGD PMID:16530041|REF_RGD_ID:1580958 11701020 EMILIN1 elastin microfibril interfacer 1 gene DOID:630 genetic disease ISO RGD:1322548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26462740 11701020 EMILIN1 elastin microfibril interfacer 1 gene DOID:9000162 Distal Hereditary Motor Neuronopathy Type 10 ISO RGD:1322548 D RGD:7240710 20221102 OMIM 11701020 EMILIN1 elastin microfibril interfacer 1 gene DOID:9000162 Distal Hereditary Motor Neuronopathy Type 10 ISO RGD:1322548 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type X PMID:26462740|PMID:31978608 11701045 GCM2 glial cells missing transcription factor 2 gene DOID:0110242 cataract 13 with adult i phenotype ISO RGD:1322420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 13 with adult I phenotype PMID:28492532 11701045 GCM2 glial cells missing transcription factor 2 gene DOID:0111387 familial isolated hypoparathyroidism ISO RGD:1322420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial isolated hypoparathyroidism PMID:15728199|PMID:18182452|PMID:21642377|PMID:23155703|PMID:25741868|PMID:27745835|PMID:28492532|PMID:29264504|PMID:30624640|PMID:31671402|PMID:32576032 11701045 GCM2 glial cells missing transcription factor 2 gene DOID:11199 hypoparathyroidism ISO RGD:1322421 D RGD:9068941 20220825 MouseDO OMIM:146200 | OMIM:307700 11701045 GCM2 glial cells missing transcription factor 2 gene DOID:630 genetic disease ISO RGD:1322420 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18712808|PMID:27480553 11701045 GCM2 glial cells missing transcription factor 2 gene DOID:9002627 Familial Isolated Hypoparathyroidism 2 ISO RGD:1322420 D RGD:7240710 20200520 OMIM 11701045 GCM2 glial cells missing transcription factor 2 gene DOID:9002627 Familial Isolated Hypoparathyroidism 2 ISO RGD:1322420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, familial isolated, 2 PMID:11602629|PMID:15728199|PMID:15863676|PMID:18583467|PMID:18712808|PMID:21642377|PMID:25741868|PMID:27745835|PMID:28492532|PMID:29264504|PMID:30624640|PMID:31671402|PMID:32576032 11701045 GCM2 glial cells missing transcription factor 2 gene DOID:9003143 Hyperparathyroidism 4 ISO RGD:1322420 D RGD:7240710 20190315 OMIM 11701045 GCM2 glial cells missing transcription factor 2 gene DOID:9003143 Hyperparathyroidism 4 ISO RGD:1322420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 4 PMID:15728199|PMID:21642377|PMID:25741868|PMID:27745835|PMID:28492532|PMID:29264504|PMID:30624640|PMID:31671402|PMID:32576032|PMID:34008892 11701054 CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1601858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 11701054 CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 gene DOID:630 genetic disease ISO RGD:1601858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11701054 CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1601858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11701054 CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 gene DOID:9008465 SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE ISO RGD:1601858 D RGD:7240710 20200826 OMIM 11701054 CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 gene DOID:9008465 SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE ISO RGD:1601858 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia, mild, with joint laxity and advanced bone age PMID:25741868|PMID:27599773|PMID:28492532|PMID:31325655|PMID:31705726 11701083 R3HCC1L R3H domain and coiled-coil containing 1 like gene DOID:630 genetic disease ISO RGD:1317417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11701118 NFS1 NFS1 cysteine desulfurase gene DOID:630 genetic disease ISO RGD:1350532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11701118 NFS1 NFS1 cysteine desulfurase gene DOID:9005483 Combined Oxidative Phosphorylation Deficiency 52 ISO RGD:1350532 D RGD:7240710 20210707 OMIM 11701118 NFS1 NFS1 cysteine desulfurase gene DOID:9005483 Combined Oxidative Phosphorylation Deficiency 52 ISO RGD:1350532 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 52 PMID:16199547|PMID:24498631|PMID:25741868|PMID:28492532|PMID:33457206 11701135 CABLES2 Cdk5 and Abl enzyme substrate 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345026 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11701135 CABLES2 Cdk5 and Abl enzyme substrate 2 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1345026 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11701135 CABLES2 Cdk5 and Abl enzyme substrate 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345026 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11701135 CABLES2 Cdk5 and Abl enzyme substrate 2 gene DOID:630 genetic disease ISO RGD:1345026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11701148 RPL23A ribosomal protein L23a gene DOID:14330 Parkinson's disease ISO RGD:1312599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18353766 11701148 RPL23A ribosomal protein L23a gene DOID:630 genetic disease ISO RGD:1312599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11701148 RPL23A ribosomal protein L23a gene DOID:9008939 Breast Neoplasms ISO RGD:1312599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 11701157 SLC30A3 solute carrier family 30 member 3 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1346114 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11701157 SLC30A3 solute carrier family 30 member 3 gene DOID:630 genetic disease ISO RGD:1346114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11701157 SLC30A3 solute carrier family 30 member 3 gene DOID:9007956 Febrile Seizures ISO RGD:1346114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Febrile seizures 11701175 TAS2R38 taste 2 receptor member 38 gene DOID:0080690 RASopathy ISO RGD:1346793 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 11701175 TAS2R38 taste 2 receptor member 38 gene DOID:1574 alcohol use disorder ISO RGD:1346793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17250611 11701175 TAS2R38 taste 2 receptor member 38 gene DOID:630 genetic disease ISO RGD:1346793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11701175 TAS2R38 taste 2 receptor member 38 gene DOID:9004935 Thiourea Tasting ISO RGD:1346793 D RGD:7240710 20180130 OMIM 11701175 TAS2R38 taste 2 receptor member 38 gene DOID:9004935 Thiourea Tasting ISO RGD:1346793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phenylthiocarbamide tasting PMID:12595690|PMID:28492532 11701175 TAS2R38 taste 2 receptor member 38 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1346793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 11701180 STRA8 stimulated by retinoic acid 8 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11701180 STRA8 stimulated by retinoic acid 8 gene DOID:630 genetic disease ISO RGD:1604701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11701192 KCNH6 potassium voltage-gated channel subfamily H member 6 gene DOID:4194 glucose metabolism disease ISO RGD:1332067 D RGD:9068941 20220825 MouseDO 11701192 KCNH6 potassium voltage-gated channel subfamily H member 6 gene DOID:630 genetic disease ISO RGD:737542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11701211 GLIPR2 GLI pathogenesis related 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1316497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11701211 GLIPR2 GLI pathogenesis related 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1316497 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11701211 GLIPR2 GLI pathogenesis related 2 gene DOID:0080942 anauxetic dysplasia ISO RGD:1316497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11701211 GLIPR2 GLI pathogenesis related 2 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1316497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11701211 GLIPR2 GLI pathogenesis related 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1316497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11701211 GLIPR2 GLI pathogenesis related 2 gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:1316497 D RGD:9068941 20220303 RGD protein:decreased expression:blood (human) PMID:32663515|REF_RGD_ID:151660329 11701211 GLIPR2 GLI pathogenesis related 2 gene DOID:630 genetic disease ISO RGD:1316497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11701211 GLIPR2 GLI pathogenesis related 2 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1316497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11701211 GLIPR2 GLI pathogenesis related 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11701211 GLIPR2 GLI pathogenesis related 2 gene DOID:9870 galactosemia ISO RGD:1316497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11701224 LAMC3 laminin subunit gamma 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1319725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21572417|PMID:28191889 11701224 LAMC3 laminin subunit gamma 3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1319725 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11701224 LAMC3 laminin subunit gamma 3 gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1319725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 11701224 LAMC3 laminin subunit gamma 3 gene DOID:1059 intellectual disability ISO RGD:1319725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:33639934 11701224 LAMC3 laminin subunit gamma 3 gene DOID:1826 epilepsy ISO RGD:1319725 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11701224 LAMC3 laminin subunit gamma 3 gene DOID:630 genetic disease ISO RGD:1319725 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28191889|PMID:28492532 11701224 LAMC3 laminin subunit gamma 3 gene DOID:9003313 Occipital Cortical Malformations ISO RGD:1319725 D RGD:7240710 20180130 OMIM 11701224 LAMC3 laminin subunit gamma 3 gene DOID:9003313 Occipital Cortical Malformations ISO RGD:1319725 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cortical malformations, occipital PMID:16199547|PMID:18414213|PMID:21572413|PMID:23160955|PMID:25326635|PMID:25741868|PMID:26633542|PMID:26802095|PMID:28492532|PMID:30266093|PMID:32902107|PMID:33639934 11701224 LAMC3 laminin subunit gamma 3 gene DOID:9007364 Mouth Neoplasms ISO RGD:1319725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27749845 11701224 LAMC3 laminin subunit gamma 3 gene DOID:9008539 Perinatal Death ISO RGD:1319725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal death PMID:25741868|PMID:28492532|PMID:33639934 11701224 LAMC3 laminin subunit gamma 3 gene DOID:936 brain disease ISO RGD:1319725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21572413 11701290 ZNF48 zinc finger protein 48 gene DOID:10283 prostate cancer ISO RGD:1343499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11701290 ZNF48 zinc finger protein 48 gene DOID:630 genetic disease ISO RGD:1343499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11701296 TIAM1 TIAM Rac1 associated GEF 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1316657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11701296 TIAM1 TIAM Rac1 associated GEF 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1316657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 11701296 TIAM1 TIAM Rac1 associated GEF 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1316657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11701296 TIAM1 TIAM Rac1 associated GEF 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1316657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27862620 11701296 TIAM1 TIAM Rac1 associated GEF 1 gene DOID:630 genetic disease ISO RGD:1316657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11701296 TIAM1 TIAM Rac1 associated GEF 1 gene DOID:9003411 Neurodevelopmental Disorder with Language Delay and Seizures ISO RGD:1316657 D RGD:7240710 20221116 OMIM 11701296 TIAM1 TIAM Rac1 associated GEF 1 gene DOID:9003411 Neurodevelopmental Disorder with Language Delay and Seizures ISO RGD:1316657 D RGD:8554872 20221115 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with language delay and seizures PMID:35240055 11701296 TIAM1 TIAM Rac1 associated GEF 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:1316657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27862620 11701342 SDE2 SDE2 telomere maintenance homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1603354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11701342 SDE2 SDE2 telomere maintenance homolog gene DOID:630 genetic disease ISO RGD:1603354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11701342 SDE2 SDE2 telomere maintenance homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11701353 BTBD9 BTB domain containing 9 gene DOID:0050425 restless legs syndrome ISO RGD:1315893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17637780 11701353 BTBD9 BTB domain containing 9 gene DOID:0050425 restless legs syndrome ISO RGD:1315894 D RGD:9068941 20220825 MouseDO OMIM:102300 | OMIM:610438 | OMIM:610439 | OMIM:611185 | OMIM:611242 | OMIM:612853 | OMIM:615197 11701353 BTBD9 BTB domain containing 9 gene DOID:1059 intellectual disability ISO RGD:1315893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11701353 BTBD9 BTB domain containing 9 gene DOID:630 genetic disease ISO RGD:1315893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11701377 TRIR telomerase RNA component interacting RNase gene DOID:0050990 episodic ataxia type 2 ISO RGD:1604305 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11701377 TRIR telomerase RNA component interacting RNase gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1604305 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11701377 TRIR telomerase RNA component interacting RNase gene DOID:0111254 glutaric acidemia I ISO RGD:1604305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11701377 TRIR telomerase RNA component interacting RNase gene DOID:3413 alpha-mannosidosis ISO RGD:1604305 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11701384 PRKCB protein kinase C beta gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:731404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 11701384 PRKCB protein kinase C beta gene DOID:10003 sensorineural hearing loss ISO RGD:731404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27329761 11701384 PRKCB protein kinase C beta gene DOID:10325 silicosis ISO RGD:3396 D RGD:9068941 20200609 RGD protein:increased activation:alveolar macrophage PMID:14680365|REF_RGD_ID:1625527 11701384 PRKCB protein kinase C beta gene DOID:10652 Alzheimer's disease ISO RGD:731404 D RGD:9068941 20200609 RGD PMID:8534418|REF_RGD_ID:13825140 11701384 PRKCB protein kinase C beta gene DOID:10763 hypertension ISO RGD:3396 D RGD:9068941 20200609 RGD PMID:15804434|REF_RGD_ID:1625513 11701384 PRKCB protein kinase C beta gene DOID:12849 autistic disorder ISO RGD:731404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16027742 11701384 PRKCB protein kinase C beta gene DOID:12930 dilated cardiomyopathy ISO RGD:731404 D RGD:9068941 20200609 RGD PMID:9918525|REF_RGD_ID:1581274 11701384 PRKCB protein kinase C beta gene DOID:1824 status epilepticus ISO RGD:3396 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:15058486|REF_RGD_ID:1625525 11701384 PRKCB protein kinase C beta gene DOID:2914 immune system disease ISO RGD:1550017 D RGD:9068941 20200609 RGD PMID:12118249|REF_RGD_ID:737729 11701384 PRKCB protein kinase C beta gene DOID:3908 lung non-small cell carcinoma ISO RGD:731404 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter:lung PMID:28422739|REF_RGD_ID:13503321 11701384 PRKCB protein kinase C beta gene DOID:4195 hyperglycemia ISO RGD:3396 D RGD:9068941 20200609 RGD PMID:15616014|REF_RGD_ID:1625514 11701384 PRKCB protein kinase C beta gene DOID:4195 hyperglycemia ISO RGD:731404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17443133 11701384 PRKCB protein kinase C beta gene DOID:6000 congestive heart failure ISO RGD:3396 D RGD:9068941 20200609 RGD associated with hypertension PMID:12392998|REF_RGD_ID:1625516 11701384 PRKCB protein kinase C beta gene DOID:630 genetic disease ISO RGD:731404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11701384 PRKCB protein kinase C beta gene DOID:9000217 Stomach Neoplasms ISO RGD:731404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17003101 11701384 PRKCB protein kinase C beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11701384 PRKCB protein kinase C beta gene DOID:9001984 Fetal Diseases ISO RGD:3396 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression PMID:15496608|REF_RGD_ID:1625524 11701384 PRKCB protein kinase C beta gene DOID:9002165 Diabetic Nephropathies ISO RGD:3396 D RGD:9068941 20200609 RGD associated with hypertension;protein:increased expression:glomerular mesangium PMID:12540629|REF_RGD_ID:729635 11701384 PRKCB protein kinase C beta gene DOID:9002211 Hyperalgesia ISO RGD:3396 D RGD:9068941 20200609 RGD associated with inflammation;protein:increased activity:spinal cord PMID:16360284|REF_RGD_ID:1625519 11701384 PRKCB protein kinase C beta gene DOID:9003936 Cardiomegaly ISO RGD:3396 D RGD:9068941 20200609 RGD PMID:12887134|REF_RGD_ID:1581276 11701384 PRKCB protein kinase C beta gene DOID:9003936 Cardiomegaly ISO RGD:731404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17121852 11701384 PRKCB protein kinase C beta gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3396 D RGD:9068941 20200609 RGD PMID:16900949|REF_RGD_ID:1581275 11701384 PRKCB protein kinase C beta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3396 D RGD:9068941 20200609 RGD protein:increased expression:myocardium PMID:17250813|REF_RGD_ID:1625511 11701384 PRKCB protein kinase C beta gene DOID:9007692 Insulin Resistance ISO RGD:3396 D RGD:9068941 20200609 RGD PMID:12665248|REF_RGD_ID:1625515 11701384 PRKCB protein kinase C beta gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3396 D RGD:9068941 20200609 RGD PMID:15878997|REF_RGD_ID:1625520 11701384 PRKCB protein kinase C beta gene DOID:9008443 Colorectal Neoplasms ISO RGD:731404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7705931 11701384 PRKCB protein kinase C beta gene DOID:9352 type 2 diabetes mellitus ISO RGD:731404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15531508 11701384 PRKCB protein kinase C beta gene DOID:9970 obesity ISO RGD:3396 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:mononuclear cell PMID:17180352|REF_RGD_ID:1625512 11701407 DES desmin gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1347887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:10717012|PMID:10905661|PMID:14991347|PMID:15050448|PMID:21262226|PMID:22153487|PMID:23425003|PMID:23575897|PMID:24033266|PMID:25179549|PMID:25741868|PMID:27532257|PMID:27854218|PMID:28492532|PMID:31718026|PMID:33023321 11701407 DES desmin gene DOID:0050700 cardiomyopathy ISO RGD:1347887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10430757|PMID:10717012|PMID:10905661|PMID:14724127|PMID:14991347|PMID:15050448|PMID:15477095|PMID:16217025|PMID:16519886|PMID:16828798|PMID:16865695|PMID:17221859|PMID:17325244|PMID:17576681|PMID:17626518|PMID:18414213|PMID:18653338|PMID:19181099|PMID:20474083|PMID:20981092|PMID:21262226|PMID:21842594|PMID:22153487|PMID:22215463|PMID:22337857|PMID:23143191|PMID:23168288|PMID:23299917|PMID:23300193|PMID:23425003|PMID:23575897|PMID:23806086|PMID:23861362|PMID:24033266|PMID:24088041|PMID:24503780|PMID:25214167|PMID:25617006|PMID:25736269|PMID:25741868|PMID:26265630|PMID:26431784|PMID:26467025|PMID:26724190|PMID:27532257|PMID:27697855|PMID:27854218|PMID:27896284|PMID:27930701|PMID:28341588|PMID:28492532|PMID:28798025|PMID:29926427|PMID:30190612|PMID:30323756|PMID:30615648|PMID:30755392|PMID:30764827|PMID:30847666|PMID:31371504|PMID:31718026|PMID:31953240|PMID:31983221|PMID:32093415|PMID:32142595|PMID:32268277|PMID:32403337|PMID:32746448|PMID:32880476|PMID:33023321|PMID:33662488|PMID:34426522|PMID:9536098 11701407 DES desmin gene DOID:0060224 atrial fibrillation ISO RGD:1347887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20137276 11701407 DES desmin gene DOID:0080000 muscular disease ISO RGD:1347887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Skeletal muscle disease PMID:24033266|PMID:24503780|PMID:25741868|PMID:26265630|PMID:26724190|PMID:28341588|PMID:28492532|PMID:30755392|PMID:32268277|PMID:32403337 11701407 DES desmin gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1347887 D RGD:7240710 20180130 OMIM 11701407 DES desmin gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1347887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy | ClinVar Annotator: match by term: Myofibrillar myopathy 1 PMID:10430757|PMID:10545598|PMID:10717012|PMID:10905661|PMID:10970245|PMID:11061256|PMID:11073539|PMID:11310634|PMID:11668632|PMID:11728149|PMID:12410397|PMID:12609507|PMID:12620971|PMID:12766977|PMID:14326018|PMID:14648196|PMID:14711882|PMID:14724127|PMID:14991347|PMID:15050448|PMID:15477095|PMID:15759133|PMID:15800015|PMID:16009553|PMID:16199547|PMID:16217025|PMID:16376610|PMID:16449718|PMID:16519886|PMID:16806931|PMID:16828798|PMID:16865695|PMID:16890305|PMID:17105773|PMID:17188893|PMID:17221859|PMID:17325244|PMID:17418574|PMID:17439987|PMID:17576681|PMID:17626518|PMID:17720647|PMID:18061454|PMID:18414213|PMID:18504128|PMID:18539904|PMID:18563598|PMID:18653338|PMID:18765652|PMID:19005210|PMID:19105189|PMID:19151983|PMID:19181099|PMID:19433360|PMID:19587455|PMID:19716701|PMID:19763525|PMID:19879535|PMID:20171226|PMID:20301672|PMID:20423733|PMID:20448486|PMID:20474083|PMID:20696008|PMID:20718792|PMID:20829228|PMID:20981092|PMID:21135508|PMID:21262226|PMID:21520333|PMID:21676617|PMID:21842594|PMID:22106715|PMID:22153487|PMID:22215463|PMID:22275259|PMID:22337857|PMID:22395865|PMID:22403400|PMID:22484823|PMID:23032110|PMID:23051780|PMID:23143191|PMID:23155419|PMID:23168288|PMID:23299917|PMID:23300193|PMID:23349452|PMID:23396983|PMID:23425003|PMID:23575897|PMID:23639843|PMID:23687351|PMID:23785128|PMID:23806086|PMID:23815709|PMID:23861362|PMID:24033266|PMID:24088041|PMID:24200904|PMID:24441330|PMID:24503780|PMID:25163546|PMID:25171807|PMID:25179549|PMID:25214167|PMID:25333361|PMID:25394388|PMID:25557463|PMID:25590979|PMID:25617006|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25928149|PMID:26097489|PMID:26265630|PMID:26272908|PMID:26431784|PMID:26467025|PMID:26633545|PMID:26676851|PMID:26724190|PMID:26789769|PMID:27393313|PMID:27532257|PMID:27561770|PMID:27618136|PMID:27697855|PMID:27733623|PMID:27810088|PMID:27854218|PMID:27896284|PMID:27930701|PMID:28171858|PMID:28256728|PMID:28341588|PMID:28403181|PMID:28416588|PMID:28470624|PMID:28492532|PMID:28566242|PMID:28588093|PMID:28611029|PMID:28703267|PMID:28798025|PMID:29034897|PMID:29212896|PMID:29247119|PMID:29382405|PMID:29386531|PMID:29447731|PMID:29892087|PMID:29915097|PMID:29915714|PMID:29926427|PMID:29997562|PMID:30023281|PMID:30055862|PMID:30062237|PMID:30190612|PMID:30323756|PMID:30403391|PMID:30531895|PMID:30614851|PMID:30615648|PMID:30677492|PMID:30755392|PMID:30764827|PMID:30847666|PMID:30975432|PMID:31371504|PMID:31609036|PMID:31718026|PMID:31835587|PMID:31912959|PMID:31953240|PMID:31983221|PMID:31998224|PMID:32093415|PMID:32105824|PMID:32142595|PMID:32150461|PMID:32235386|PMID:32268277|PMID:32397162|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32880476|PMID:33023321|PMID:33290826|PMID:33373648|PMID:33505848|PMID:33546848|PMID:33652119|PMID:33662488|PMID:33673806|PMID:33874732|PMID:34011823|PMID:34315782|PMID:34426522|PMID:36497166|PMID:5828910|PMID:7672786|PMID:8114783|PMID:9382102|PMID:9536098|PMID:9697706|PMID:9736733 11701407 DES desmin gene DOID:0080307 myofibrillar myopathy ISO RGD:1347887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant | ClinVar Annotator: match by term: Myofibrillar myopathy PMID:10905661|PMID:14711882|PMID:14724127|PMID:15477095|PMID:16217025|PMID:16519886|PMID:16828798|PMID:16865695|PMID:17221859|PMID:17325244|PMID:17626518|PMID:18414213|PMID:20474083|PMID:20981092|PMID:21262226|PMID:21842594|PMID:22215463|PMID:22337857|PMID:23051780|PMID:23143191|PMID:23168288|PMID:23299917|PMID:23806086|PMID:23861362|PMID:24033266|PMID:24088041|PMID:25214167|PMID:25617006|PMID:25736269|PMID:25741868|PMID:25928149|PMID:26467025|PMID:27618136|PMID:27697855|PMID:27896284|PMID:27930701|PMID:28416588|PMID:28492532|PMID:28798025|PMID:29892087|PMID:29926427|PMID:30190612|PMID:30847666|PMID:32142595|PMID:32150461|PMID:32880476|PMID:33652119 11701407 DES desmin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1347887 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:17221859|PMID:18653338|PMID:19151983|PMID:20171226|PMID:20423733|PMID:20448486|PMID:22106715|PMID:22153487|PMID:22403400|PMID:23349452|PMID:24033266|PMID:25557463|PMID:25741868|PMID:26467025|PMID:27810088|PMID:27854218|PMID:28256728|PMID:28492532|PMID:28611029|PMID:29915714|PMID:30023281|PMID:31912959 11701407 DES desmin gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1347887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11701407 DES desmin gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1347887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:25741868 11701407 DES desmin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1347887 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:17221859|PMID:18653338|PMID:19151983|PMID:20171226|PMID:20423733|PMID:20448486|PMID:22106715|PMID:22153487|PMID:22403400|PMID:23349452|PMID:24033266|PMID:25557463|PMID:25741868|PMID:26467025|PMID:27810088|PMID:27854218|PMID:28256728|PMID:28492532|PMID:28611029|PMID:29915714|PMID:30023281|PMID:31912959 11701407 DES desmin gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1347887 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868|PMID:28492532|PMID:30847666 11701407 DES desmin gene DOID:0110431 dilated cardiomyopathy 1I ISO RGD:1347887 D RGD:7240710 20180130 OMIM 11701407 DES desmin gene DOID:0110431 dilated cardiomyopathy 1I ISO RGD:1347887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1I PMID:10430757|PMID:10717012|PMID:10905661|PMID:11310634|PMID:11728149|PMID:12609507|PMID:14724127|PMID:14991347|PMID:15477095|PMID:15800015|PMID:16199547|PMID:16217025|PMID:16519886|PMID:16828798|PMID:16865695|PMID:17105773|PMID:17221859|PMID:17325244|PMID:17439987|PMID:17576681|PMID:17626518|PMID:18414213|PMID:18539904|PMID:18653338|PMID:19105189|PMID:19181099|PMID:20448486|PMID:20474083|PMID:20696008|PMID:20718792|PMID:20981092|PMID:21262226|PMID:21520333|PMID:21842594|PMID:22153487|PMID:22215463|PMID:22337857|PMID:23143191|PMID:23168288|PMID:23299917|PMID:23396983|PMID:23575897|PMID:23806086|PMID:23861362|PMID:24033266|PMID:24088041|PMID:24200904|PMID:24503780|PMID:25214167|PMID:25333361|PMID:25394388|PMID:25617006|PMID:25736269|PMID:25741868|PMID:25928149|PMID:26265630|PMID:26272908|PMID:26431784|PMID:26467025|PMID:26724190|PMID:27393313|PMID:27532257|PMID:27697855|PMID:27896284|PMID:27930701|PMID:28341588|PMID:28416588|PMID:28470624|PMID:28492532|PMID:28588093|PMID:28798025|PMID:29247119|PMID:29382405|PMID:29386531|PMID:29447731|PMID:29915097|PMID:29926427|PMID:29997562|PMID:30190612|PMID:30403391|PMID:30531895|PMID:30615648|PMID:30677492|PMID:30755392|PMID:30764827|PMID:30847666|PMID:31019283|PMID:31953240|PMID:31983221|PMID:32093415|PMID:32142595|PMID:32150461|PMID:32235386|PMID:32268277|PMID:32397162|PMID:32403337|PMID:32528171|PMID:32880476|PMID:33652119|PMID:33662488|PMID:34011823|PMID:34426522|PMID:36497166|PMID:9536098|PMID:9697706 11701407 DES desmin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1347887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:10717012|PMID:11073539|PMID:12620971|PMID:14724127|PMID:19587455|PMID:19716701|PMID:20696008|PMID:22153487|PMID:23575897|PMID:23815709|PMID:24033266|PMID:24503780|PMID:25590979|PMID:28492532|PMID:33874732 11701407 DES desmin gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1347887 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:29253866 11701407 DES desmin gene DOID:0111214 distal spinal muscular atrophy type 5 ISO RGD:1347887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Young adult-onset distal hereditary motor neuropathy PMID:28492532 11701407 DES desmin gene DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type ISO RGD:1347887 D RGD:7240710 20180130 OMIM 11701407 DES desmin gene DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type ISO RGD:1347887 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neurogenic scapuloperoneal syndrome, Kaeser type | ClinVar Annotator: match by term: Scapuloperoneal syndrome, neurogenic type, of Kaeser PMID:10430757|PMID:10717012|PMID:10905661|PMID:11310634|PMID:11728149|PMID:12609507|PMID:14326018|PMID:14724127|PMID:14991347|PMID:15477095|PMID:15800015|PMID:16199547|PMID:16217025|PMID:16519886|PMID:16828798|PMID:16865695|PMID:17105773|PMID:17221859|PMID:17325244|PMID:17439987|PMID:17626518|PMID:18414213|PMID:18539904|PMID:18653338|PMID:19181099|PMID:20448486|PMID:20474083|PMID:20696008|PMID:20718792|PMID:20981092|PMID:21262226|PMID:21520333|PMID:21842594|PMID:22153487|PMID:22215463|PMID:22337857|PMID:23143191|PMID:23168288|PMID:23299917|PMID:23396983|PMID:23575897|PMID:23806086|PMID:23861362|PMID:24033266|PMID:24088041|PMID:24503780|PMID:25214167|PMID:25333361|PMID:25394388|PMID:25617006|PMID:25736269|PMID:25741868|PMID:25928149|PMID:26265630|PMID:26272908|PMID:26467025|PMID:26724190|PMID:27393313|PMID:27532257|PMID:27697855|PMID:27896284|PMID:27930701|PMID:28171858|PMID:28341588|PMID:28416588|PMID:28470624|PMID:28492532|PMID:28588093|PMID:28798025|PMID:29247119|PMID:29382405|PMID:29447731|PMID:29915097|PMID:29926427|PMID:29997562|PMID:30190612|PMID:30403391|PMID:30531895|PMID:30615648|PMID:30677492|PMID:30755392|PMID:30764827|PMID:30847666|PMID:31953240|PMID:32093415|PMID:32142595|PMID:32150461|PMID:32235386|PMID:32268277|PMID:32397162|PMID:32403337|PMID:32528171|PMID:32880476|PMID:33652119|PMID:34011823|PMID:34426522|PMID:36497166|PMID:5828910|PMID:9697706 11701407 DES desmin gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1347887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11701407 DES desmin gene DOID:11372 megacolon ISO RGD:1347887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11701407 DES desmin gene DOID:1148 polydactyly ISO RGD:1347887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 11701407 DES desmin gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1347887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23687351|PMID:30055862 11701407 DES desmin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1551179 D RGD:9068941 20200609 RGD PMID:10591032|REF_RGD_ID:13525010 11701407 DES desmin gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:1347887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary alveolar proteinosis PMID:24033266|PMID:24503780|PMID:25741868|PMID:26265630|PMID:26724190|PMID:28341588|PMID:28492532|PMID:30755392|PMID:32268277|PMID:32403337 11701407 DES desmin gene DOID:12716 newborn respiratory distress syndrome ISO RGD:1347887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neonatal respiratory distress PMID:24033266|PMID:24503780|PMID:25741868|PMID:26265630|PMID:26724190|PMID:28341588|PMID:28492532|PMID:30755392|PMID:32268277|PMID:32403337 11701407 DES desmin gene DOID:12930 dilated cardiomyopathy ISO RGD:1347887 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10717012|PMID:11073539|PMID:12620971|PMID:14724127|PMID:15800015|PMID:17221859|PMID:17325244|PMID:17439987|PMID:17720647|PMID:18061454|PMID:18653338|PMID:19151983|PMID:19181099|PMID:19587455|PMID:19716701|PMID:19763525|PMID:19879535|PMID:20171226|PMID:20423733|PMID:20448486|PMID:20474083|PMID:20696008|PMID:20981092|PMID:22106715|PMID:22153487|PMID:22215463|PMID:22275259|PMID:22337857|PMID:22403400|PMID:22484823|PMID:23143191|PMID:23155419|PMID:23299917|PMID:23349452|PMID:23815709|PMID:23861362|PMID:24033266|PMID:24088041|PMID:24503780|PMID:25394388|PMID:25557463|PMID:25590979|PMID:25617006|PMID:25741868|PMID:26467025|PMID:26633545|PMID:27393313|PMID:27532257|PMID:27810088|PMID:27854218|PMID:27896284|PMID:28256728|PMID:28492532|PMID:28611029|PMID:29247119|PMID:29386531|PMID:29915714|PMID:29926427|PMID:30023281|PMID:30615648|PMID:31609036|PMID:31912959|PMID:32093415|PMID:32403337|PMID:34426522|PMID:9382102 11701407 DES desmin gene DOID:12930 dilated cardiomyopathy ISO RGD:1347887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10717012|PMID:11073539|PMID:12620971|PMID:14724127|PMID:15800015|PMID:17221859|PMID:17325244|PMID:17439987|PMID:17576681|PMID:17720647|PMID:18061454|PMID:18653338|PMID:19151983|PMID:19181099|PMID:19587455|PMID:19716701|PMID:19763525|PMID:19879535|PMID:20171226|PMID:20423733|PMID:20448486|PMID:20474083|PMID:20696008|PMID:20981092|PMID:22106715|PMID:22153487|PMID:22215463|PMID:22275259|PMID:22337857|PMID:22403400|PMID:22484823|PMID:23143191|PMID:23155419|PMID:23299917|PMID:23349452|PMID:23575897|PMID:23815709|PMID:23861362|PMID:24033266|PMID:24088041|PMID:24503780|PMID:25394388|PMID:25557463|PMID:25590979|PMID:25617006|PMID:25741868|PMID:26097489|PMID:26467025|PMID:26633545|PMID:27393313|PMID:27532257|PMID:27810088|PMID:27854218|PMID:27896284|PMID:28256728|PMID:28492532|PMID:28611029|PMID:29247119|PMID:29386531|PMID:29915714|PMID:29926427|PMID:30023281|PMID:30615648|PMID:31609036|PMID:31912959|PMID:32093415|PMID:32403337|PMID:33874732|PMID:34426522|PMID:9382102|PMID:9536098 11701407 DES desmin gene DOID:2527 nephrosis ISO RGD:1347887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16418842 11701407 DES desmin gene DOID:2921 glomerulonephritis ISO RGD:1347887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20962747 11701407 DES desmin gene DOID:305 carcinoma ISO RGD:1347887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11701407 DES desmin gene DOID:3082 interstitial lung disease ISO RGD:1347887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Interstitial lung disease PMID:24033266|PMID:24503780|PMID:25741868|PMID:26265630|PMID:26724190|PMID:28341588|PMID:28492532|PMID:30755392|PMID:32268277|PMID:32403337 11701407 DES desmin gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1347887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia PMID:14724127|PMID:15477095|PMID:16217025|PMID:16519886|PMID:16828798|PMID:16865695|PMID:17325244|PMID:17626518|PMID:20474083|PMID:21842594|PMID:22215463|PMID:23143191|PMID:23168288|PMID:23806086|PMID:23861362|PMID:24033266|PMID:24088041|PMID:25214167|PMID:25736269|PMID:25741868|PMID:26467025|PMID:28492532 11701407 DES desmin gene DOID:397 restrictive cardiomyopathy ISO RGD:1347887 D RGD:9068941 20200609 RGD PMID:11298680|REF_RGD_ID:1580290 11701407 DES desmin gene DOID:423 myopathy ISO RGD:1347887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myopathy PMID:24033266|PMID:24503780|PMID:25741868|PMID:26265630|PMID:26724190|PMID:28341588|PMID:28492532|PMID:30755392|PMID:32268277|PMID:32403337 11701407 DES desmin gene DOID:440 neuromuscular disease ISO RGD:1347887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuromuscular disorder PMID:10717012|PMID:11073539|PMID:12620971|PMID:14724127|PMID:17221859|PMID:18653338|PMID:19151983|PMID:19587455|PMID:19716701|PMID:20171226|PMID:20423733|PMID:20448486|PMID:20696008|PMID:22106715|PMID:22153487|PMID:22403400|PMID:23349452|PMID:23575897|PMID:23815709|PMID:24033266|PMID:24503780|PMID:25557463|PMID:25590979|PMID:25741868|PMID:26467025|PMID:27810088|PMID:27854218|PMID:28256728|PMID:28492532|PMID:28611029|PMID:29915714|PMID:30023281|PMID:31912959|PMID:33874732 11701407 DES desmin gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1347887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11701407 DES desmin gene DOID:630 genetic disease ISO RGD:1347887 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11701407 DES desmin gene DOID:9000217 Stomach Neoplasms ISO RGD:1347887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 11701407 DES desmin gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1347887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11701407 DES desmin gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1347887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:24033266|PMID:25741868|PMID:27697855|PMID:27930701|PMID:28492532|PMID:28798025|PMID:29926427|PMID:30190612|PMID:30847666|PMID:32142595|PMID:32880476 11701407 DES desmin gene DOID:9000655 Hereditary Motor Neuropathy with Myopathic Features ISO RGD:1347887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuromyopathy PMID:10717012|PMID:11073539|PMID:12620971|PMID:14724127|PMID:17221859|PMID:18653338|PMID:19151983|PMID:19587455|PMID:19716701|PMID:20171226|PMID:20423733|PMID:20448486|PMID:20696008|PMID:22106715|PMID:22153487|PMID:22403400|PMID:23349452|PMID:23575897|PMID:23815709|PMID:24033266|PMID:24503780|PMID:25557463|PMID:25590979|PMID:25741868|PMID:26467025|PMID:27810088|PMID:27854218|PMID:28256728|PMID:28492532|PMID:28611029|PMID:29915714|PMID:30023281|PMID:31912959|PMID:33874732 11701407 DES desmin gene DOID:9002231 Fetal Growth Retardation ISO RGD:1347887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28157488 11701407 DES desmin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11701407 DES desmin gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1347887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11701407 DES desmin gene DOID:9005603 Muscle Hypotonia ISO RGD:1347887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:24033266|PMID:24503780|PMID:25741868|PMID:26265630|PMID:26724190|PMID:28341588|PMID:28492532 11701407 DES desmin gene DOID:9005603 Muscle Hypotonia ISO RGD:1347887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:24033266|PMID:24503780|PMID:25741868|PMID:26265630|PMID:26724190|PMID:28341588|PMID:28492532|PMID:30755392|PMID:32268277|PMID:32403337 11701407 DES desmin gene DOID:9005605 Arteriovenous Fistula ISO RGD:620686 D RGD:9068941 20200609 RGD PMID:10591032|REF_RGD_ID:13525010 11701407 DES desmin gene DOID:9008939 Breast Neoplasms ISO RGD:1347887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25330770 11701407 DES desmin gene DOID:9279 hyperhomocysteinemia ISO RGD:1347887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20116427 11701407 DES desmin gene DOID:988 mitral valve prolapse ISO RGD:1347887 D RGD:9068941 20200609 RGD protein:altered expression:;eft ventricule PMID:27464577|REF_RGD_ID:13542088 11701420 PDE4D phosphodiesterase 4D gene DOID:0080297 Coffin-Siris syndrome 6 ISO RGD:736102 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 6 PMID:25741868 11701420 PDE4D phosphodiesterase 4D gene DOID:10485 esophageal atresia ISO RGD:736102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 11701420 PDE4D phosphodiesterase 4D gene DOID:1059 intellectual disability ISO RGD:736102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11701420 PDE4D phosphodiesterase 4D gene DOID:14669 acrodysostosis ISO RGD:736102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acrodysostosis PMID:25741868|PMID:28492532 11701420 PDE4D phosphodiesterase 4D gene DOID:1596 depressive disorder ISO RGD:3281 D RGD:9068941 20200609 RGD PMID:22487514|REF_RGD_ID:7327149 11701420 PDE4D phosphodiesterase 4D gene DOID:224 transient cerebral ischemia ISO RGD:3281 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus CA1 PMID:22860212|REF_RGD_ID:7327148 11701420 PDE4D phosphodiesterase 4D gene DOID:2841 asthma ISO RGD:736102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19426955|PMID:21611147 11701420 PDE4D phosphodiesterase 4D gene DOID:630 genetic disease ISO RGD:736102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11701420 PDE4D phosphodiesterase 4D gene DOID:670 amphetamine abuse ISO RGD:736102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11701420 PDE4D phosphodiesterase 4D gene DOID:9000998 Brain Injuries ISO RGD:3281 D RGD:9068941 20200609 RGD mRNA, protein:alternative form, decreased phosphorylation:brain PMID:23057870|REF_RGD_ID:7327147 11701420 PDE4D phosphodiesterase 4D gene DOID:9002304 Prostatic Neoplasms ISO RGD:736102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16740699|PMID:29662167 11701420 PDE4D phosphodiesterase 4D gene DOID:9002649 Acrodysostosis 2, with or without Hormone Resistance ISO RGD:736102 D RGD:7240710 20180130 OMIM 11701420 PDE4D phosphodiesterase 4D gene DOID:9002649 Acrodysostosis 2, with or without Hormone Resistance ISO RGD:736102 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance PMID:11200992|PMID:12121997|PMID:15025561|PMID:21681106|PMID:22464250|PMID:23033274|PMID:24033266|PMID:24203977|PMID:25044890|PMID:25064455|PMID:25741868|PMID:28492532|PMID:30006632 11701420 PDE4D phosphodiesterase 4D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11701420 PDE4D phosphodiesterase 4D gene DOID:9007096 Stroke ISO RGD:3281 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, leukocyte PMID:17922411|REF_RGD_ID:2313907 11701420 PDE4D phosphodiesterase 4D gene DOID:9007096 Stroke ISO RGD:736102 D RGD:9068941 20200609 RGD PMID:14517540|PMID:16675738|PMID:16825591|PMID:16914755|REF_RGD_ID:1581003|REF_RGD_ID:1581004|REF_RGD_ID:1581005|REF_RGD_ID:1581007 11701445 CAMKMT calmodulin-lysine N-methyltransferase gene DOID:0060858 hypotonia-cystinuria syndrome ISO RGD:1332422 D RGD:9068941 20220825 MouseDO OMIM:606407 11701445 CAMKMT calmodulin-lysine N-methyltransferase gene DOID:0060858 hypotonia-cystinuria syndrome ISO RGD:1605634 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 11701445 CAMKMT calmodulin-lysine N-methyltransferase gene DOID:3883 Lynch syndrome ISO RGD:1605634 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11701445 CAMKMT calmodulin-lysine N-methyltransferase gene DOID:630 genetic disease ISO RGD:1605634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11701445 CAMKMT calmodulin-lysine N-methyltransferase gene DOID:699 mitochondrial myopathy ISO RGD:1605634 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 11701445 CAMKMT calmodulin-lysine N-methyltransferase gene DOID:8927 learning disability ISO RGD:1605634 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 11701445 CAMKMT calmodulin-lysine N-methyltransferase gene DOID:9005532 Muscle Weakness ISO RGD:1605634 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 11701445 CAMKMT calmodulin-lysine N-methyltransferase gene DOID:9008086 Developmental Disabilities ISO RGD:1605634 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 11701445 CAMKMT calmodulin-lysine N-methyltransferase gene DOID:9923 developmental coordination disorder ISO RGD:1605634 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 11701461 MINAR2 membrane integral NOTCH2 associated receptor 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:2291767 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11701461 MINAR2 membrane integral NOTCH2 associated receptor 2 gene DOID:14330 Parkinson's disease ISO RGD:1323760 D RGD:9068941 20220825 MouseDO 11701461 MINAR2 membrane integral NOTCH2 associated receptor 2 gene DOID:9000161 Autosomal Recessive Nonsyndromic Deafness 120 ISO RGD:2291767 D RGD:7240710 20230215 OMIM 11701461 MINAR2 membrane integral NOTCH2 associated receptor 2 gene DOID:9000161 Autosomal Recessive Nonsyndromic Deafness 120 ISO RGD:2291767 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 120 PMID:35727972 11701461 MINAR2 membrane integral NOTCH2 associated receptor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2291767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11701461 MINAR2 membrane integral NOTCH2 associated receptor 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:2291767 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11701466 TNNI2 troponin I2, fast skeletal type gene DOID:0050646 distal arthrogryposis ISO RGD:1344978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal | ClinVar Annotator: match by term: Distal arthrogryposis PMID:12592607|PMID:17101001|PMID:17194691|PMID:25741868 11701466 TNNI2 troponin I2, fast skeletal type gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11701466 TNNI2 troponin I2, fast skeletal type gene DOID:0080000 muscular disease ISO RGD:1344978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19628585 11701466 TNNI2 troponin I2, fast skeletal type gene DOID:0080773 delta beta-thalassemia ISO RGD:1344978 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11701466 TNNI2 troponin I2, fast skeletal type gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1344978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868 11701466 TNNI2 troponin I2, fast skeletal type gene DOID:0111599 distal arthrogryposis type 2B ISO RGD:1344978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11701466 TNNI2 troponin I2, fast skeletal type gene DOID:0111600 distal arthrogryposis type 2B1 ISO RGD:1344978 D RGD:7240710 20180130 OMIM 11701466 TNNI2 troponin I2, fast skeletal type gene DOID:0111600 distal arthrogryposis type 2B1 ISO RGD:1344978 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 PMID:12592607|PMID:17101001|PMID:17194691|PMID:23401156|PMID:23850728|PMID:25340332|PMID:25741868|PMID:26526134|PMID:27790376|PMID:28492532 11701466 TNNI2 troponin I2, fast skeletal type gene DOID:0111969 immunodeficiency 39 ISO RGD:1344978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11701466 TNNI2 troponin I2, fast skeletal type gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11701466 TNNI2 troponin I2, fast skeletal type gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1344978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11701466 TNNI2 troponin I2, fast skeletal type gene DOID:630 genetic disease ISO RGD:1344978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11701466 TNNI2 troponin I2, fast skeletal type gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1344978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11701486 MUC16 mucin 16, cell surface associated gene DOID:10140 dry eye syndrome ISO RGD:1346263 D RGD:9068941 20200609 RGD protein:increased expression:tear PMID:22089171|REF_RGD_ID:7349375 11701486 MUC16 mucin 16, cell surface associated gene DOID:1227 neutropenia ISO RGD:1346263 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 11701486 MUC16 mucin 16, cell surface associated gene DOID:12849 autistic disorder ISO RGD:1346263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11701486 MUC16 mucin 16, cell surface associated gene DOID:12894 Sjogren's syndrome ISO RGD:1346263 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:conjunctival epithelial cell, tear PMID:19122828|REF_RGD_ID:7364772 11701486 MUC16 mucin 16, cell surface associated gene DOID:1324 lung cancer ISO RGD:1346263 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 11701486 MUC16 mucin 16, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:1346263 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19377061|REF_RGD_ID:2325129 11701486 MUC16 mucin 16, cell surface associated gene DOID:2394 ovarian cancer treatment ISO RGD:1346263 D RGD:9068941 20200609 RGD PMID:18641636|REF_RGD_ID:7364774 11701486 MUC16 mucin 16, cell surface associated gene DOID:4001 ovarian carcinoma ISO RGD:1308422 D RGD:9068941 20200609 RGD PMID:20356397|REF_RGD_ID:2325203 11701486 MUC16 mucin 16, cell surface associated gene DOID:4947 cholangiocarcinoma ISO RGD:1346263 D RGD:9068941 20200609 RGD associated with Opisthorchiasis;protein:increased expression:serum PMID:1653472|REF_RGD_ID:2325142 11701486 MUC16 mucin 16, cell surface associated gene DOID:5409 lung small cell carcinoma ISO RGD:1346263 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 11701486 MUC16 mucin 16, cell surface associated gene DOID:576 proteinuria ISO RGD:1346263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12169874 11701486 MUC16 mucin 16, cell surface associated gene DOID:9000011 Gallbladder Neoplasms ISO RGD:1346263 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17542293|REF_RGD_ID:2325132 11701486 MUC16 mucin 16, cell surface associated gene DOID:9002762 Ovarian Neoplasms ISO RGD:1346263 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11706781 11701486 MUC16 mucin 16, cell surface associated gene DOID:9002936 Bile Duct Neoplasms ISO RGD:1346263 D RGD:9068941 20200609 RGD protein:increased expression:serum,bile PMID:1657243|REF_RGD_ID:2325134 11701486 MUC16 mucin 16, cell surface associated gene DOID:9005172 Lung Neoplasms ISO RGD:1346263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29552305 11701486 MUC16 mucin 16, cell surface associated gene DOID:9368 keratoconjunctivitis ISO RGD:1346263 D RGD:9068941 20200609 RGD mRNA:increased expression:conjunctival epithelial cell PMID:18782111|REF_RGD_ID:7364735 11701574 LAMA4 laminin subunit alpha 4 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1320894 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:24033266|PMID:25741868|PMID:28492532|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32880476 11701574 LAMA4 laminin subunit alpha 4 gene DOID:0050451 Brugada syndrome ISO RGD:1320894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:25741868|PMID:28492532|PMID:28986455 11701574 LAMA4 laminin subunit alpha 4 gene DOID:0050650 familial atrial fibrillation ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial atrial fibrillation PMID:25741868|PMID:28492532 11701574 LAMA4 laminin subunit alpha 4 gene DOID:0050700 cardiomyopathy ISO RGD:1320894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:17576681|PMID:17646580|PMID:20890277|PMID:23861362|PMID:24033266|PMID:24463507|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28798025|PMID:30847666|PMID:31333075|PMID:31568572|PMID:31983221|PMID:9536098 11701574 LAMA4 laminin subunit alpha 4 gene DOID:0050970 spinocerebellar ataxia type 19/22 ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22 PMID:25741868|PMID:28492532 11701574 LAMA4 laminin subunit alpha 4 gene DOID:0060163 body dysmorphic disorder ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 11701574 LAMA4 laminin subunit alpha 4 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 11701574 LAMA4 laminin subunit alpha 4 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1320894 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30086531|PMID:30847666|PMID:31333075|PMID:31568572|PMID:31983221 11701574 LAMA4 laminin subunit alpha 4 gene DOID:0110226 Brugada syndrome 9 ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 9 PMID:25741868|PMID:28492532 11701574 LAMA4 laminin subunit alpha 4 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:24033266|PMID:25741868|PMID:28166811|PMID:28492532|PMID:31333075|PMID:31568572 11701574 LAMA4 laminin subunit alpha 4 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1320894 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30086531|PMID:30847666|PMID:31333075|PMID:31568572|PMID:31983221 11701574 LAMA4 laminin subunit alpha 4 gene DOID:0110438 dilated cardiomyopathy 1JJ ISO RGD:1320894 D RGD:7240710 20180130 OMIM 11701574 LAMA4 laminin subunit alpha 4 gene DOID:0110438 dilated cardiomyopathy 1JJ ISO RGD:1320894 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1JJ PMID:16199547|PMID:16204254|PMID:17576681|PMID:17646580|PMID:20890277|PMID:21822268|PMID:23274168|PMID:23861362|PMID:24033266|PMID:24121792|PMID:24463507|PMID:24503780|PMID:25326637|PMID:25741868|PMID:27532257|PMID:28166811|PMID:28416588|PMID:28492532|PMID:28750076|PMID:28798025|PMID:28986455|PMID:29016939|PMID:29247119|PMID:30086531|PMID:30847666|PMID:31024045|PMID:31333075|PMID:31527676|PMID:31534214|PMID:31568572|PMID:31983221|PMID:32746448|PMID:32880476|PMID:33874732|PMID:9536098 11701574 LAMA4 laminin subunit alpha 4 gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S 11701574 LAMA4 laminin subunit alpha 4 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 11701574 LAMA4 laminin subunit alpha 4 gene DOID:12642 hiatus hernia ISO RGD:1320894 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hiatus hernia PMID:25741868|PMID:28492532 11701574 LAMA4 laminin subunit alpha 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28416588|PMID:28492532|PMID:31333075|PMID:31568572 11701574 LAMA4 laminin subunit alpha 4 gene DOID:2843 long QT syndrome ISO RGD:1320894 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 11701574 LAMA4 laminin subunit alpha 4 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1320894 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:23861362|PMID:28492532|PMID:30847666 11701574 LAMA4 laminin subunit alpha 4 gene DOID:630 genetic disease ISO RGD:1320894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11701574 LAMA4 laminin subunit alpha 4 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:28492532 11701574 LAMA4 laminin subunit alpha 4 gene DOID:9003281 Spontaneous Abortions ISO RGD:1320894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11701574 LAMA4 laminin subunit alpha 4 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 11701574 LAMA4 laminin subunit alpha 4 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 11701622 BAG6 BAG cochaperone 6 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:733092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia PMID:31474318 11701622 BAG6 BAG cochaperone 6 gene DOID:0050553 JMP syndrome ISO RGD:733092 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11701622 BAG6 BAG cochaperone 6 gene DOID:11372 megacolon ISO RGD:733092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11701622 BAG6 BAG cochaperone 6 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:733092 D RGD:9068941 20200609 RGD DNA:SNP: :rs3117582(human) PMID:25884493|REF_RGD_ID:14390136 11701622 BAG6 BAG cochaperone 6 gene DOID:630 genetic disease ISO RGD:733092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11701622 BAG6 BAG cochaperone 6 gene DOID:8398 osteoarthritis susceptibility ISO RGD:733092 D RGD:9068941 20200609 RGD DNA:SNP: :rs3117582(human) PMID:25231575|REF_RGD_ID:14390133 11701622 BAG6 BAG cochaperone 6 gene DOID:9004283 Transplant Rejection susceptibility ISO RGD:733092 D RGD:9068941 20200609 RGD DNA:haplotype: :rs10484558(human) PMID:25111513|REF_RGD_ID:14390152 11701622 BAG6 BAG cochaperone 6 gene DOID:9253 gastrointestinal stromal tumor disease_progression ISO RGD:733092 D RGD:9068941 20200609 RGD PMID:28197361|REF_RGD_ID:14390153 11701702 NCKIPSD NCK interacting protein with SH3 domain gene DOID:630 genetic disease ISO RGD:1322714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11701702 NCKIPSD NCK interacting protein with SH3 domain gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1322714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11701702 NCKIPSD NCK interacting protein with SH3 domain gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1322714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11701719 MTRES1 mitochondrial transcription rescue factor 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1346285 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 11701727 CFAP141 cilia and flagella associated protein 141 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11701727 CFAP141 cilia and flagella associated protein 141 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11701727 CFAP141 cilia and flagella associated protein 141 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11701727 CFAP141 cilia and flagella associated protein 141 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 11701727 CFAP141 cilia and flagella associated protein 141 gene DOID:1540 parathyroid carcinoma ISO RGD:1606869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11701727 CFAP141 cilia and flagella associated protein 141 gene DOID:5812 MHC class II deficiency ISO RGD:1606869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11701727 CFAP141 cilia and flagella associated protein 141 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11701735 NDC80 NDC80 kinetochore complex component gene DOID:10534 stomach cancer ISO RGD:1320890 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach PMID:19878654|REF_RGD_ID:28867241 11701735 NDC80 NDC80 kinetochore complex component gene DOID:1059 intellectual disability ISO RGD:1320890 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11701735 NDC80 NDC80 kinetochore complex component gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1320890 D RGD:9068941 20200609 RGD PMID:17079454|REF_RGD_ID:28867236 11701735 NDC80 NDC80 kinetochore complex component gene DOID:630 genetic disease ISO RGD:1320890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11701735 NDC80 NDC80 kinetochore complex component gene DOID:684 hepatocellular carcinoma ISO RGD:1320890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11701735 NDC80 NDC80 kinetochore complex component gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1320890 D RGD:9068941 20201203 RGD associated with melanoma PMID:31173190|REF_RGD_ID:40822820 11701735 NDC80 NDC80 kinetochore complex component gene DOID:9256 colorectal cancer ISO RGD:1320890 D RGD:9068941 20200609 RGD mRNA:increased expression:colorectum PMID:19878654|REF_RGD_ID:28867241 11701756 EDN2 endothelin 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:737548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11701756 EDN2 endothelin 2 gene DOID:10591 pre-eclampsia ISO RGD:737548 D RGD:9068941 20200609 RGD PMID:9015697|REF_RGD_ID:1580919 11701756 EDN2 endothelin 2 gene DOID:10763 hypertension ISO RGD:737548 D RGD:9068941 20200609 RGD PMID:10489105|PMID:10976780|REF_RGD_ID:1580916|REF_RGD_ID:1580917 11701756 EDN2 endothelin 2 gene DOID:10763 hypertension ISO RGD:737548 D RGD:9068941 20200609 RGD mRNA:increased expression:leukocyte PMID:15007037|REF_RGD_ID:1625402 11701756 EDN2 endothelin 2 gene DOID:5844 myocardial infarction ISO RGD:2533 D RGD:9068941 20200609 RGD PMID:10573185|REF_RGD_ID:1580921 11701756 EDN2 endothelin 2 gene DOID:630 genetic disease ISO RGD:737548 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11701756 EDN2 endothelin 2 gene DOID:6432 pulmonary hypertension ISO RGD:737548 D RGD:9068941 20200609 RGD PMID:10598486|REF_RGD_ID:1580918 11701756 EDN2 endothelin 2 gene DOID:9004009 Reperfusion Injury ISO RGD:2533 D RGD:9068941 20200609 RGD PMID:1479622|REF_RGD_ID:1580920 11701756 EDN2 endothelin 2 gene DOID:9004080 Aortic Rupture ISO RGD:737548 D RGD:9068941 20200609 RGD PMID:11947982|REF_RGD_ID:1580915 11701756 EDN2 endothelin 2 gene DOID:9006024 Hypotension ISO RGD:737548 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1309933 11701756 EDN2 endothelin 2 gene DOID:9006045 Dissecting Aneurysm ISO RGD:737548 D RGD:9068941 20200609 RGD PMID:11947982|REF_RGD_ID:1580915 11701756 EDN2 endothelin 2 gene DOID:9007001 Bradycardia ISO RGD:737548 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1309933 11701766 BCAS4 breast carcinoma amplified sequence 4 gene DOID:630 genetic disease ISO RGD:1352594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11701776 ARGFX arginine-fifty homeobox gene DOID:630 genetic disease ISO RGD:1605759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11701776 ARGFX arginine-fifty homeobox gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1605759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 11701776 ARGFX arginine-fifty homeobox gene DOID:9270 alkaptonuria ISO RGD:1605759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11701790 MYBPC2 myosin binding protein C2 gene DOID:630 genetic disease ISO RGD:1323136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11701790 MYBPC2 myosin binding protein C2 gene DOID:9006836 Contracture ISO RGD:1323136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures PMID:26752647 11701818 DUSP10 dual specificity phosphatase 10 gene DOID:0050439 Usher syndrome ISO RGD:1321979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 11701818 DUSP10 dual specificity phosphatase 10 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1321979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 11701818 DUSP10 dual specificity phosphatase 10 gene DOID:1540 parathyroid carcinoma ISO RGD:1321979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11701818 DUSP10 dual specificity phosphatase 10 gene DOID:4989 pancreatitis ISO RGD:1310844 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:11027531|REF_RGD_ID:2301725 11701818 DUSP10 dual specificity phosphatase 10 gene DOID:630 genetic disease ISO RGD:1321979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11701818 DUSP10 dual specificity phosphatase 10 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1321980 D RGD:9068941 20200609 RGD PMID:15306813|REF_RGD_ID:7775013 11701818 DUSP10 dual specificity phosphatase 10 gene DOID:9005372 Inflammation ISO RGD:1321979 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17151092 11701818 DUSP10 dual specificity phosphatase 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11701833 ZNF358 zinc finger protein 358 gene DOID:0080490 mucolipidosis type IV ISO RGD:1321306 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11701833 ZNF358 zinc finger protein 358 gene DOID:0110790 hereditary spastic paraplegia 39 ISO RGD:1321306 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 PMID:28492532 11701833 ZNF358 zinc finger protein 358 gene DOID:630 genetic disease ISO RGD:1321306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11701840 ISM1 isthmin 1 gene DOID:630 genetic disease ISO RGD:1351413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11701853 TMEM125 transmembrane protein 125 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1604757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11701853 TMEM125 transmembrane protein 125 gene DOID:630 genetic disease ISO RGD:1604757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11701879 HLTF helicase like transcription factor gene DOID:0050579 glycogen storage disease XV ISO RGD:1319146 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 11701879 HLTF helicase like transcription factor gene DOID:630 genetic disease ISO RGD:1319146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11701879 HLTF helicase like transcription factor gene DOID:9002265 Kidney Neoplasms ISO RGD:1319146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762066 11701937 SYNM synemin gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1354169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 11701937 SYNM synemin gene DOID:630 genetic disease ISO RGD:1354169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11701948 FLNB filamin B gene DOID:0050680 Boomerang dysplasia ISO RGD:1323621 D RGD:7240710 20180130 OMIM 11701948 FLNB filamin B gene DOID:0050680 Boomerang dysplasia ISO RGD:1323621 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Boomerang dysplasia PMID:12955767|PMID:14991055|PMID:17510210|PMID:25741868|PMID:28492532 11701948 FLNB filamin B gene DOID:0060564 spinal disease ISO RGD:1323621 D RGD:9068941 20200609 RGD spondylocarpotarsal syndrome,OMIM:272460;DNA:frameshift:6408delC,DNA:point mutation:exons:R818X,R1607X PMID:14991055|REF_RGD_ID:1601168 11701948 FLNB filamin B gene DOID:0080006 bone development disease ISO RGD:1323621 D RGD:9068941 20200609 RGD Larsen syndrome,OMIM:150250;DNA:point mutation:exon:F161C PMID:14991055|REF_RGD_ID:1601168 11701948 FLNB filamin B gene DOID:0080006 bone development disease ISO RGD:1323621 D RGD:9068941 20200609 RGD boomerang dysplasia, OMIM:112310;DNA:point mutation:exon:L171R,S235P PMID:15994868|REF_RGD_ID:1601170 11701948 FLNB filamin B gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1323621 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: FLNB-Related Disorders PMID:16752402|PMID:20301736|PMID:22190451|PMID:25741868 11701948 FLNB filamin B gene DOID:0090116 spondylocarpotarsal synostosis syndrome ISO RGD:1323621 D RGD:7240710 20180130 OMIM 11701948 FLNB filamin B gene DOID:0090116 spondylocarpotarsal synostosis syndrome ISO RGD:1323621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome PMID:14991055|PMID:18257094|PMID:18322662|PMID:18386804|PMID:20301736|PMID:25741868|PMID:26380986|PMID:28492532|PMID:29566257 11701948 FLNB filamin B gene DOID:11836 clubfoot ISO RGD:1323621 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:c.4717G>T (p.D1573Y), c.1897A>G(p.M633V,c.2195A>G (p.Y732C)(human) PMID:27395407|REF_RGD_ID:12791025 11701948 FLNB filamin B gene DOID:14764 Larsen syndrome ISO RGD:1323621 D RGD:7240710 20180130 OMIM 11701948 FLNB filamin B gene DOID:14764 Larsen syndrome ISO RGD:1323621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders | ClinVar Annotator: match by term: Larsen syndrome PMID:14991055|PMID:16648377|PMID:16752402|PMID:16801345|PMID:17576681|PMID:18322662|PMID:20301736|PMID:21620354|PMID:22190451|PMID:24123776|PMID:25741868|PMID:26380986|PMID:26491051|PMID:27048506|PMID:28229453|PMID:28492532|PMID:32369273|PMID:9536098 11701948 FLNB filamin B gene DOID:2256 osteochondrodysplasia ISO RGD:1323621 D RGD:9068941 20200609 RGD DNA:missense, deletion mutations:exons: PMID:16752402|REF_RGD_ID:12791027 11701948 FLNB filamin B gene DOID:2256 osteochondrodysplasia ISO RGD:1323621 D RGD:9068941 20200609 RGD atelosteogenesis type I,OMIM:108720;DNA:point mutation:exon:A173V PMID:14991055|REF_RGD_ID:1601168 11701948 FLNB filamin B gene DOID:630 genetic disease ISO RGD:1323621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11701948 FLNB filamin B gene DOID:65 connective tissue disease ISO RGD:1323621 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:14991055|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11701948 FLNB filamin B gene DOID:65 connective tissue disease ISO RGD:1323621 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:14991055|PMID:17576681|PMID:20301736|PMID:25741868|PMID:28492532|PMID:9536098 11701948 FLNB filamin B gene DOID:674 cleft palate susceptibility ISO RGD:1323621 D RGD:9068941 20200609 RGD DNA:SNPs:: PMID:20634891|REF_RGD_ID:12791026 11701948 FLNB filamin B gene DOID:9001383 Atelosteogenesis Type 1 ISO RGD:1323621 D RGD:7240710 20180130 OMIM 11701948 FLNB filamin B gene DOID:9001383 Atelosteogenesis Type 1 ISO RGD:1323621 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Atelosteogenesis type I PMID:14991055|PMID:16752402|PMID:20301736|PMID:22190451|PMID:24624349|PMID:25741868|PMID:28492532 11701948 FLNB filamin B gene DOID:9004353 Larsen Syndromes ISO RGD:1323621 D RGD:9068941 20200609 RGD DNA:deletion, missense mutations:cds: PMID:16801345|REF_RGD_ID:12791029 11701948 FLNB filamin B gene DOID:9004436 Atelosteogenesis Type 3 ISO RGD:1323621 D RGD:7240710 20180130 OMIM 11701948 FLNB filamin B gene DOID:9004436 Atelosteogenesis Type 3 ISO RGD:1323621 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Atelosteogenesis type III PMID:14991055|PMID:17576681|PMID:20301736|PMID:25741868|PMID:28492532|PMID:9536098 11701948 FLNB filamin B gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1323621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 11701948 FLNB filamin B gene DOID:9004979 Knee Dislocation ISO RGD:1323621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Knee dislocation PMID:25741868|PMID:28492532|PMID:31836586 11701948 FLNB filamin B gene DOID:9007661 Dwarfism ISO RGD:1323621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11702008 BRSK2 BR serine/threonine kinase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11702008 BRSK2 BR serine/threonine kinase 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1345228 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11702008 BRSK2 BR serine/threonine kinase 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:1345228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11702008 BRSK2 BR serine/threonine kinase 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11702008 BRSK2 BR serine/threonine kinase 2 gene DOID:1059 intellectual disability ISO RGD:1345228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11702008 BRSK2 BR serine/threonine kinase 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1345228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11702008 BRSK2 BR serine/threonine kinase 2 gene DOID:630 genetic disease ISO RGD:1345228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:30879638 11702008 BRSK2 BR serine/threonine kinase 2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1345228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11702044 TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:0050590 severe congenital neutropenia ISO RGD:1603702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia PMID:24753205 11702044 TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1603702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency 11702044 TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:0080625 severe congenital neutropenia 1 ISO RGD:1603702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant PMID:24753205 11702044 TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:0110942 autosomal recessive osteopetrosis 1 ISO RGD:1603702 D RGD:7240710 20180130 OMIM 11702044 TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:0110942 autosomal recessive osteopetrosis 1 ISO RGD:1603702 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 | ClinVar Annotator: match by term: Marble bones autosomal recessive PMID:10888887|PMID:10942435|PMID:11532986|PMID:12507890|PMID:12552563|PMID:12566520|PMID:14675409|PMID:15300850|PMID:16199547|PMID:16840787|PMID:17576681|PMID:18715141|PMID:19448635|PMID:19507210|PMID:20424301|PMID:21042819|PMID:22231430|PMID:23412864|PMID:23721911|PMID:24033266|PMID:24101165|PMID:24108692|PMID:24535484|PMID:24753205|PMID:24989235|PMID:25018813|PMID:25326635|PMID:25525159|PMID:25741868|PMID:25829125|PMID:26264438|PMID:26777052|PMID:27229898|PMID:28492532|PMID:28604959|PMID:29363653|PMID:29431110|PMID:30084437|PMID:30431110|PMID:30537558|PMID:30539151|PMID:30898715|PMID:31319225|PMID:31501239|PMID:31567691|PMID:31589614|PMID:31949009|PMID:31949762|PMID:32411386|PMID:34753502|PMID:9506970|PMID:9536098 11702044 TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1603702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 11702044 TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:1059 intellectual disability ISO RGD:1603702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11702044 TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:11836 clubfoot ISO RGD:1552412 D RGD:9068941 20220825 MouseDO OMIM:119800 11702044 TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:13533 osteopetrosis ISO RGD:1603702 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteopetrosis PMID:10888887|PMID:10942435|PMID:11532986|PMID:12552563|PMID:15300850|PMID:16199547|PMID:16840787|PMID:19448635|PMID:19507210|PMID:20424301|PMID:21042819|PMID:23721911|PMID:24033266|PMID:24535484|PMID:24753205|PMID:25326635|PMID:25525159|PMID:25741868|PMID:28492532|PMID:29363653|PMID:29431110|PMID:30084437|PMID:30431110|PMID:30539151|PMID:30898715|PMID:31501239|PMID:31567691|PMID:31589614|PMID:31949009|PMID:31949762|PMID:32411386|PMID:34753502 11702044 TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:3652 Leigh disease ISO RGD:1603702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome 11702044 TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:4254 osteosclerosis ISO RGD:1603702 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:22231430|PMID:24033266|PMID:25741868|PMID:26264438|PMID:28492532 11702044 TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:630 genetic disease ISO RGD:1603702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10942435|PMID:15300850|PMID:17576681|PMID:19507210|PMID:24989235|PMID:25741868|PMID:28492532|PMID:9536098 11702044 TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1603702 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11702044 TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1603702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11702080 ATP6V1C2 ATPase H+ transporting V1 subunit C2 gene DOID:11372 megacolon ISO RGD:1354342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11702080 ATP6V1C2 ATPase H+ transporting V1 subunit C2 gene DOID:14219 renal tubular acidosis ISO RGD:1354342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:31959358 11702080 ATP6V1C2 ATPase H+ transporting V1 subunit C2 gene DOID:630 genetic disease ISO RGD:1354342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11702080 ATP6V1C2 ATPase H+ transporting V1 subunit C2 gene DOID:9007406 Distal Renal Tubular Acidosis ISO RGD:1354342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:31959358 11702101 RPS20 ribosomal protein S20 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:736603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:25741868|PMID:32790018 11702101 RPS20 ribosomal protein S20 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736603 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:24941021|PMID:28492532 11702109 PTBP2 polypyrimidine tract binding protein 2 gene DOID:630 genetic disease ISO RGD:1343835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11702144 ZDHHC17 zinc finger DHHC-type palmitoyltransferase 17 gene DOID:12858 Huntington's disease ISO RGD:1557918 D RGD:9068941 20220825 MouseDO OMIM:143100 11702144 ZDHHC17 zinc finger DHHC-type palmitoyltransferase 17 gene DOID:630 genetic disease ISO RGD:1351838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11702170 CROCC2 ciliary rootlet coiled-coil, rootletin family member 2 gene DOID:0080600 COVID-19 ISO RGD:10040878 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11702170 CROCC2 ciliary rootlet coiled-coil, rootletin family member 2 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:10040878 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11702237 DDX41 DEAD-box helicase 41 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1323380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11702237 DDX41 DEAD-box helicase 41 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1323380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelodysplasia | ClinVar Annotator: match by term: Myelodysplastic syndrome PMID:25741868|PMID:26712909|PMID:27133828|PMID:27795557|PMID:28492532|PMID:28547672|PMID:30963592|PMID:31484648|PMID:32098966|PMID:33585199 11702237 DDX41 DEAD-box helicase 41 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1323380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11702237 DDX41 DEAD-box helicase 41 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1323380 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 11702237 DDX41 DEAD-box helicase 41 gene DOID:12449 aplastic anemia ISO RGD:1323380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aplastic anemia 11702237 DDX41 DEAD-box helicase 41 gene DOID:2226 myeloproliferative neoplasm ISO RGD:1323380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to PMID:17576681|PMID:25741868|PMID:25920683|PMID:26712909|PMID:27133828|PMID:27174803|PMID:27721487|PMID:27795557|PMID:28492532|PMID:28547672|PMID:30963592|PMID:31484648|PMID:31713024|PMID:32054657|PMID:32098966|PMID:33585199|PMID:33626862|PMID:9536098 11702237 DDX41 DEAD-box helicase 41 gene DOID:2226 myeloproliferative neoplasm susceptibility ISO RGD:1323380 D RGD:7240710 20230118 OMIM 11702237 DDX41 DEAD-box helicase 41 gene DOID:4961 bone marrow disease ISO RGD:1323380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bone marrow hypocellularity PMID:25741868|PMID:26712909|PMID:27133828|PMID:27795557|PMID:28492532|PMID:28547672|PMID:30963592|PMID:31484648|PMID:32054657|PMID:32098966|PMID:33585199 11702237 DDX41 DEAD-box helicase 41 gene DOID:630 genetic disease ISO RGD:1323380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11702237 DDX41 DEAD-box helicase 41 gene DOID:9000647 Acute Erythroleukemia ISO RGD:1323380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926971 11702237 DDX41 DEAD-box helicase 41 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1323380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11702237 DDX41 DEAD-box helicase 41 gene DOID:9119 acute myeloid leukemia ISO RGD:1323380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:25741868|PMID:25920683|PMID:26712909|PMID:27133828|PMID:28492532|PMID:28547672|PMID:30963592|PMID:33585199 11702275 RRP1 ribosomal RNA processing 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1605116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 11702275 RRP1 ribosomal RNA processing 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:1605116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11702275 RRP1 ribosomal RNA processing 1 gene DOID:12849 autistic disorder ISO RGD:1605116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11702275 RRP1 ribosomal RNA processing 1 gene DOID:3007 breast ductal carcinoma ISO RGD:1605116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 11702275 RRP1 ribosomal RNA processing 1 gene DOID:630 genetic disease ISO RGD:1605116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11702275 RRP1 ribosomal RNA processing 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1605116 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11702275 RRP1 ribosomal RNA processing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11702275 RRP1 ribosomal RNA processing 1 gene DOID:9263 homocystinuria ISO RGD:1605116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11702275 RRP1 ribosomal RNA processing 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11702292 P2RX3 purinergic receptor P2X 3 gene DOID:1059 intellectual disability ISO RGD:735321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11702292 P2RX3 purinergic receptor P2X 3 gene DOID:630 genetic disease ISO RGD:735321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11702292 P2RX3 purinergic receptor P2X 3 gene DOID:9002211 Hyperalgesia ISO RGD:735321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19383439 11702292 P2RX3 purinergic receptor P2X 3 gene DOID:9006062 Nervous System Trauma ISO RGD:735321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24136739 11702308 GIN1 gypsy retrotransposon integrase 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603218 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11702308 GIN1 gypsy retrotransposon integrase 1 gene DOID:630 genetic disease ISO RGD:1603218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11702308 GIN1 gypsy retrotransposon integrase 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1603218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 11702308 GIN1 gypsy retrotransposon integrase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11702308 GIN1 gypsy retrotransposon integrase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603218 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11702320 POU2F1 POU class 2 homeobox 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1344654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11702320 POU2F1 POU class 2 homeobox 1 gene DOID:630 genetic disease ISO RGD:1344654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11702320 POU2F1 POU class 2 homeobox 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11702347 LOC100971827 putative transcription factor SPT20 homolog-like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11702347 LOC100971827 putative transcription factor SPT20 homolog-like 2 gene DOID:12849 autistic disorder ISO RGD:1347213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11702347 LOC100971827 putative transcription factor SPT20 homolog-like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11702348 CCDC157 coiled-coil domain containing 157 gene DOID:630 genetic disease ISO RGD:1604878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11702377 VTA1 vesicle trafficking 1 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1312819 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 11702377 VTA1 vesicle trafficking 1 gene DOID:630 genetic disease ISO RGD:1312819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11702389 GAMT guanidinoacetate N-methyltransferase gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:732024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:11136556|PMID:11978605|PMID:12468279|PMID:12557293|PMID:15108290|PMID:15651030|PMID:16054853|PMID:16169544|PMID:16199547|PMID:16855203|PMID:17101918|PMID:17171576|PMID:17336114|PMID:17576681|PMID:19027335|PMID:19288536|PMID:19388150|PMID:19892372|PMID:20301745|PMID:21140503|PMID:22019491|PMID:23031365|PMID:23234264|PMID:23583224|PMID:23660394|PMID:24071436|PMID:24268530|PMID:24276113|PMID:24415674|PMID:24440240|PMID:2476685|PMID:25741868|PMID:26003046|PMID:26319512|PMID:26467025|PMID:27233226|PMID:27650626|PMID:27848944|PMID:28055022|PMID:28438604|PMID:28492532|PMID:28600779|PMID:29506905|PMID:29655203|PMID:31130284|PMID:31222513|PMID:32214227|PMID:34389248|PMID:8651275|PMID:9386672|PMID:9536098 11702389 GAMT guanidinoacetate N-methyltransferase gene DOID:0050799 guanidinoacetate methyltransferase deficiency ISO RGD:732024 D RGD:7240710 20180130 OMIM 11702389 GAMT guanidinoacetate N-methyltransferase gene DOID:0050799 guanidinoacetate methyltransferase deficiency ISO RGD:732024 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 PMID:11136556|PMID:11978605|PMID:12468279|PMID:12557293|PMID:15108290|PMID:15651030|PMID:16054853|PMID:16169544|PMID:16199547|PMID:16855203|PMID:17101918|PMID:17171576|PMID:17336114|PMID:17576681|PMID:19027335|PMID:19288536|PMID:19388150|PMID:19892372|PMID:20301745|PMID:21140503|PMID:22019491|PMID:23031365|PMID:23234264|PMID:23583224|PMID:23660394|PMID:23846910|PMID:24071436|PMID:24268530|PMID:24276113|PMID:24415674|PMID:24440240|PMID:2476685|PMID:25741868|PMID:26003046|PMID:26319512|PMID:26467025|PMID:27233226|PMID:27650626|PMID:28055022|PMID:28438604|PMID:28492532|PMID:29506905|PMID:29655203|PMID:31130284|PMID:32214227|PMID:33996490|PMID:34389248|PMID:8651275|PMID:9386672|PMID:9536098 11702389 GAMT guanidinoacetate N-methyltransferase gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:732024 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:11978605|PMID:12468279|PMID:20301745|PMID:25741868|PMID:28492532 11702389 GAMT guanidinoacetate N-methyltransferase gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:732024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 11702389 GAMT guanidinoacetate N-methyltransferase gene DOID:1059 intellectual disability ISO RGD:732024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:15108290|PMID:16199547|PMID:24415674|PMID:25741868|PMID:26467025|PMID:28492532 11702389 GAMT guanidinoacetate N-methyltransferase gene DOID:1826 epilepsy ISO RGD:732024 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11702389 GAMT guanidinoacetate N-methyltransferase gene DOID:3652 Leigh disease ISO RGD:732024 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:11978605|PMID:12468279|PMID:20301745|PMID:25741868|PMID:28492532 11702389 GAMT guanidinoacetate N-methyltransferase gene DOID:5339 cyclic hematopoiesis ISO RGD:732024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11702389 GAMT guanidinoacetate N-methyltransferase gene DOID:630 genetic disease ISO RGD:732024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11978605|PMID:12468279|PMID:15108290|PMID:15651030|PMID:16855203|PMID:17171576|PMID:17336114|PMID:17576681|PMID:19027335|PMID:20301745|PMID:21140503|PMID:22019491|PMID:23031365|PMID:23234264|PMID:23583224|PMID:23660394|PMID:24071436|PMID:24268530|PMID:24276113|PMID:24415674|PMID:24440240|PMID:2476685|PMID:25741868|PMID:26003046|PMID:26319512|PMID:26467025|PMID:27233226|PMID:28055022|PMID:28492532|PMID:29506905|PMID:8651275|PMID:9386672|PMID:9536098 11702389 GAMT guanidinoacetate N-methyltransferase gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:732024 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:11978605|PMID:12468279|PMID:20301745|PMID:25741868|PMID:28492532 11702389 GAMT guanidinoacetate N-methyltransferase gene DOID:9006534 Nervous System Malformations ISO RGD:732024 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:15108290|PMID:21140503|PMID:24415674|PMID:25741868|PMID:28492532|PMID:29506905 11702389 GAMT guanidinoacetate N-methyltransferase gene DOID:9252 amino acid metabolic disorder ISO RGD:732024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15651030 11702389 GAMT guanidinoacetate N-methyltransferase gene DOID:9252 amino acid metabolic disorder ISO RGD:732024 D RGD:9068941 20200609 RGD GAMT deficiency,OMIM:601240;DNA:point mutation, DNA:deletion PMID:8651275|REF_RGD_ID:1601275 11702399 CACTIN cactin, spliceosome C complex subunit gene DOID:630 genetic disease ISO RGD:1344995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11702414 TSPAN18 tetraspanin 18 gene DOID:1059 intellectual disability ISO RGD:1605907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11702414 TSPAN18 tetraspanin 18 gene DOID:5419 schizophrenia ISO RGD:1605907 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22037552 11702414 TSPAN18 tetraspanin 18 gene DOID:630 genetic disease ISO RGD:1605907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11702435 ARHGEF15 Rho guanine nucleotide exchange factor 15 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:23647072|PMID:25741868|PMID:28492532|PMID:9536098 11702435 ARHGEF15 Rho guanine nucleotide exchange factor 15 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:23647072|PMID:25741868|PMID:28492532|PMID:9536098 11702435 ARHGEF15 Rho guanine nucleotide exchange factor 15 gene DOID:10283 prostate cancer ISO RGD:1315873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11702435 ARHGEF15 Rho guanine nucleotide exchange factor 15 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1315873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22431104|PMID:23172776|PMID:28492532 11702435 ARHGEF15 Rho guanine nucleotide exchange factor 15 gene DOID:2729 dyskeratosis congenita ISO RGD:1315873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11702435 ARHGEF15 Rho guanine nucleotide exchange factor 15 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1315873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 11702435 ARHGEF15 Rho guanine nucleotide exchange factor 15 gene DOID:630 genetic disease ISO RGD:1315873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11702466 ILDR1 immunoglobulin like domain containing receptor 1 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1348957 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:15641023|PMID:21255762|PMID:25741868|PMID:30303587 11702466 ILDR1 immunoglobulin like domain containing receptor 1 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1348957 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 11702466 ILDR1 immunoglobulin like domain containing receptor 1 gene DOID:0110500 autosomal recessive nonsyndromic deafness 42 ISO RGD:1348957 D RGD:7240710 20180130 OMIM 11702466 ILDR1 immunoglobulin like domain containing receptor 1 gene DOID:0110500 autosomal recessive nonsyndromic deafness 42 ISO RGD:1348957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 42 PMID:15641023|PMID:21255762|PMID:24033266|PMID:25668204|PMID:25741868|PMID:26467025|PMID:26969326|PMID:27610647|PMID:28492532|PMID:30303587|PMID:30311386|PMID:32747562 11702466 ILDR1 immunoglobulin like domain containing receptor 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1348957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital sensorineural hearing impairment PMID:21255762|PMID:25741868|PMID:28492532 11702466 ILDR1 immunoglobulin like domain containing receptor 1 gene DOID:630 genetic disease ISO RGD:1348957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 11702466 ILDR1 immunoglobulin like domain containing receptor 1 gene DOID:9004538 Hearing Loss ISO RGD:1348957 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:21255762|PMID:24033266|PMID:25741868|PMID:27610647|PMID:28492532|PMID:30311386 11702466 ILDR1 immunoglobulin like domain containing receptor 1 gene DOID:9008681 Deafness ISO RGD:1348957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 11702466 ILDR1 immunoglobulin like domain containing receptor 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1348957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 11702466 ILDR1 immunoglobulin like domain containing receptor 1 gene DOID:9270 alkaptonuria ISO RGD:1348957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11702492 SCFD2 sec1 family domain containing 2 gene DOID:630 genetic disease ISO RGD:1348082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11702507 FAM120AOS family with sequence similarity 120A opposite strand gene DOID:12642 hiatus hernia ISO RGD:1349056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hiatus hernia 11702507 FAM120AOS family with sequence similarity 120A opposite strand gene DOID:630 genetic disease ISO RGD:1349056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11702507 FAM120AOS family with sequence similarity 120A opposite strand gene DOID:9001510 Funnel Chest ISO RGD:1349056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:25558065 11702517 TARBP2 TARBP2 subunit of RISC loading complex gene DOID:630 genetic disease ISO RGD:1316539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11702517 TARBP2 TARBP2 subunit of RISC loading complex gene DOID:9000027 Microsatellite Instability ISO RGD:1316539 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 11702517 TARBP2 TARBP2 subunit of RISC loading complex gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11702544 INAVA innate immunity activator gene DOID:0050589 inflammatory bowel disease ISO RGD:1601862 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983784 11702544 INAVA innate immunity activator gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1601862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11702544 INAVA innate immunity activator gene DOID:0112155 inflammatory bowel disease 29 ISO RGD:1601862 D RGD:7240710 20200311 OMIM 11702544 INAVA innate immunity activator gene DOID:0112155 inflammatory bowel disease 29 ISO RGD:1601862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 29 PMID:21983784|PMID:25741868|PMID:29420262 11702544 INAVA innate immunity activator gene DOID:1540 parathyroid carcinoma ISO RGD:1601862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11702544 INAVA innate immunity activator gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1601862 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11702544 INAVA innate immunity activator gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11702571 VASP vasodilator stimulated phosphoprotein gene DOID:630 genetic disease ISO RGD:1323055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11702571 VASP vasodilator stimulated phosphoprotein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323055 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11702592 PPT2 palmitoyl-protein thioesterase 2 gene DOID:0050553 JMP syndrome ISO RGD:731722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11702592 PPT2 palmitoyl-protein thioesterase 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735972 D RGD:9068941 20200609 RGD PMID:11717424|REF_RGD_ID:734785 11702592 PPT2 palmitoyl-protein thioesterase 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735972 D RGD:9068941 20220825 MouseDO 11702592 PPT2 palmitoyl-protein thioesterase 2 gene DOID:630 genetic disease ISO RGD:731722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11702616 STK11IP serine/threonine kinase 11 interacting protein gene DOID:1148 polydactyly ISO RGD:1312841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 11702616 STK11IP serine/threonine kinase 11 interacting protein gene DOID:630 genetic disease ISO RGD:1312841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11702616 STK11IP serine/threonine kinase 11 interacting protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11702644 IGSF6 immunoglobulin superfamily member 6 gene DOID:0110480 autosomal recessive nonsyndromic deafness 22 ISO RGD:1343123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 22 PMID:25741868|PMID:33492714 11702644 IGSF6 immunoglobulin superfamily member 6 gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1343123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 9 PMID:25741868 11702644 IGSF6 immunoglobulin superfamily member 6 gene DOID:3042 allergic contact dermatitis ISO RGD:1343123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 11702644 IGSF6 immunoglobulin superfamily member 6 gene DOID:630 genetic disease ISO RGD:1343123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11702644 IGSF6 immunoglobulin superfamily member 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11702654 PKMYT1 protein kinase, membrane associated tyrosine/threonine 1 gene DOID:0080600 COVID-19 ISO RGD:1603703 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11702654 PKMYT1 protein kinase, membrane associated tyrosine/threonine 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1603703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11702654 PKMYT1 protein kinase, membrane associated tyrosine/threonine 1 gene DOID:1826 epilepsy ISO RGD:1603703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11702654 PKMYT1 protein kinase, membrane associated tyrosine/threonine 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603703 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11702654 PKMYT1 protein kinase, membrane associated tyrosine/threonine 1 gene DOID:1909 melanoma ISO RGD:1603703 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11702654 PKMYT1 protein kinase, membrane associated tyrosine/threonine 1 gene DOID:630 genetic disease ISO RGD:1603703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11702654 PKMYT1 protein kinase, membrane associated tyrosine/threonine 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1603703 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11702668 PHF12 PHD finger protein 12 gene DOID:630 genetic disease ISO RGD:1313935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11702668 PHF12 PHD finger protein 12 gene DOID:9008582 Developmental Disease ISO RGD:1313935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11702700 NIFK nucleolar protein interacting with the FHA domain of MKI67 gene DOID:630 genetic disease ISO RGD:1345364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11702711 SLC2A7 solute carrier family 2 member 7 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1344587 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11702711 SLC2A7 solute carrier family 2 member 7 gene DOID:630 genetic disease ISO RGD:1344587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11702711 SLC2A7 solute carrier family 2 member 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11702727 TMCC3 transmembrane and coiled-coil domain family 3 gene DOID:2661 myoepithelioma ISO RGD:1346901 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11702727 TMCC3 transmembrane and coiled-coil domain family 3 gene DOID:630 genetic disease ISO RGD:1346901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11702735 GAB3 GRB2 associated binding protein 3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1353554 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11702735 GAB3 GRB2 associated binding protein 3 gene DOID:0050476 Barth syndrome ISO RGD:1353554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11702735 GAB3 GRB2 associated binding protein 3 gene DOID:0050800 creatine transporter deficiency ISO RGD:1353554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11702735 GAB3 GRB2 associated binding protein 3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1353554 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11702735 GAB3 GRB2 associated binding protein 3 gene DOID:10588 adrenoleukodystrophy ISO RGD:1353554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11702735 GAB3 GRB2 associated binding protein 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1353554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11702735 GAB3 GRB2 associated binding protein 3 gene DOID:12849 autistic disorder ISO RGD:1353554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11702735 GAB3 GRB2 associated binding protein 3 gene DOID:13628 favism ISO RGD:1353554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11702735 GAB3 GRB2 associated binding protein 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1353554 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11702735 GAB3 GRB2 associated binding protein 3 gene DOID:607 paraplegia ISO RGD:1353554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11702735 GAB3 GRB2 associated binding protein 3 gene DOID:630 genetic disease ISO RGD:1353554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11702735 GAB3 GRB2 associated binding protein 3 gene DOID:9002720 Splenomegaly ISO RGD:1353554 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11702749 CBLC Cbl proto-oncogene C gene DOID:630 genetic disease ISO RGD:1316966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11702817 CDC73 cell division cycle 73 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1323393 D RGD:9068941 20211224 RGD mRNA:altered expression: tongue, oral cavity (human) PMID:24257751|REF_RGD_ID:150537040 11702817 CDC73 cell division cycle 73 gene DOID:10534 stomach cancer ameliorates ISO RGD:1323393 D RGD:9068941 20211231 RGD mRNA:increased expression:mucosa of stomach (human) PMID:29221126|REF_RGD_ID:150539444 11702817 CDC73 cell division cycle 73 gene DOID:1324 lung cancer exacerbates ISO RGD:1323393 D RGD:9068941 20211231 RGD mRNA:increased expression:lung (human) PMID:29221126|REF_RGD_ID:150539444 11702817 CDC73 cell division cycle 73 gene DOID:13543 hyperparathyroidism ISO RGD:1323393 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism PMID:20301744|PMID:25741868 11702817 CDC73 cell division cycle 73 gene DOID:1540 parathyroid carcinoma ISO RGD:1323393 D RGD:7240710 20190315 OMIM 11702817 CDC73 cell division cycle 73 gene DOID:1540 parathyroid carcinoma ISO RGD:1323393 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:12434154|PMID:12960210|PMID:14585940|PMID:14715834|PMID:14985403|PMID:15070940|PMID:15531515|PMID:15580289|PMID:15613436|PMID:15632063|PMID:16061557|PMID:16199547|PMID:16487440|PMID:16728578|PMID:17065424|PMID:17314275|PMID:17468190|PMID:17576681|PMID:18755853|PMID:19017757|PMID:19332451|PMID:20052758|PMID:20301744|PMID:20304979|PMID:20979880|PMID:21360064|PMID:21652691|PMID:21732217|PMID:22187299|PMID:22703879|PMID:22987117|PMID:23029104|PMID:2329331|PMID:23293331|PMID:23757631|PMID:24340015|PMID:24716902|PMID:24728327|PMID:24823466|PMID:25388829|PMID:25444225|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25959515|PMID:26121439|PMID:26580448|PMID:26650250|PMID:27679651|PMID:28394026|PMID:28492532|PMID:28833384|PMID:28870973|PMID:28881068|PMID:29040582|PMID:29142233|PMID:29225260|PMID:29324469|PMID:29641532|PMID:29755684|PMID:30262796|PMID:30885698|PMID:32590342|PMID:33332384|PMID:9536098 11702817 CDC73 cell division cycle 73 gene DOID:1540 parathyroid carcinoma disease_progression ISO RGD:1323393 D RGD:9068941 20211231 RGD protein:decreased expression:parathyroid gland (human) PMID:27490759|REF_RGD_ID:150539446 11702817 CDC73 cell division cycle 73 gene DOID:1612 breast cancer exacerbates ISO RGD:1323393 D RGD:9068941 20211231 RGD mRNA:increased expression:breast (human) PMID:29221126|REF_RGD_ID:150539444 11702817 CDC73 cell division cycle 73 gene DOID:180 ossifying fibroma ISO RGD:1323393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ossifying fibroma of the jaw PMID:27658992 11702817 CDC73 cell division cycle 73 gene DOID:2394 ovarian cancer ISO RGD:1323393 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:22703879|PMID:25741868|PMID:28492532|PMID:30262796 11702817 CDC73 cell division cycle 73 gene DOID:2394 ovarian cancer severity ISO RGD:1323393 D RGD:9068941 20211231 RGD mRNA:increased expression:ovary (human) PMID:29221126|REF_RGD_ID:150539444 11702817 CDC73 cell division cycle 73 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:1323393 D RGD:9068941 20211231 RGD protein:decreased expression:larynx (human) PMID:27334641|REF_RGD_ID:150539447 11702817 CDC73 cell division cycle 73 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:1323393 D RGD:9068941 20211231 RGD protein:decreased expression:stomach (human) PMID:18080135|REF_RGD_ID:150539445 11702817 CDC73 cell division cycle 73 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1323393 D RGD:9068941 20211224 RGD mRNA:decreased expression:lung (human) PMID:21692036|REF_RGD_ID:150537041 11702817 CDC73 cell division cycle 73 gene DOID:5520 head and neck squamous cell carcinoma exacerbates ISO RGD:1323393 D RGD:9068941 20211224 RGD protein:increased expression:squamous epithelium (human) PMID:26124004|REF_RGD_ID:11065919 11702817 CDC73 cell division cycle 73 gene DOID:630 genetic disease ISO RGD:1323393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12434154 11702817 CDC73 cell division cycle 73 gene DOID:7608 parathyroid adenoma ISO RGD:1323393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parathyroid adenoma, somatic PMID:12434154|PMID:15531515|PMID:16061557|PMID:16199547|PMID:25741868|PMID:28492532 11702817 CDC73 cell division cycle 73 gene DOID:9002327 Hyperparathyroidism 2 ISO RGD:1323393 D RGD:7240710 20190315 OMIM 11702817 CDC73 cell division cycle 73 gene DOID:9002327 Hyperparathyroidism 2 ISO RGD:1323393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors PMID:12434154|PMID:12960210|PMID:14585940|PMID:14715834|PMID:15070940|PMID:15613436|PMID:17065424|PMID:20052758|PMID:20301744|PMID:25637381|PMID:25741868|PMID:28492532|PMID:29641532 11702817 CDC73 cell division cycle 73 gene DOID:9004331 Parathyroid Neoplasms ISO RGD:1323393 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11702817 CDC73 cell division cycle 73 gene DOID:9006156 Familial Cystic Parathyroid Adenomatosis ISO RGD:1323393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystic parathyroid adenoma PMID:12434154 11702817 CDC73 cell division cycle 73 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1323393 D RGD:7240710 20190315 OMIM 11702817 CDC73 cell division cycle 73 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1323393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY | ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:12434154|PMID:12960210|PMID:14585940|PMID:14715834|PMID:14985403|PMID:15531515|PMID:15580289|PMID:15632063|PMID:16061557|PMID:16199547|PMID:17065424|PMID:17576681|PMID:19017757|PMID:20052758|PMID:20301744|PMID:20979880|PMID:21681106|PMID:22187299|PMID:22703879|PMID:23029104|PMID:23293331|PMID:24716902|PMID:25444225|PMID:25637381|PMID:25741868|PMID:25959515|PMID:28492532|PMID:28774260|PMID:28833384|PMID:28881068|PMID:29641532|PMID:30262796|PMID:9536098 11702817 CDC73 cell division cycle 73 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12960210|PMID:14985403|PMID:17065424|PMID:19332451|PMID:20052758|PMID:25741868|PMID:28166811|PMID:28492532 11702817 CDC73 cell division cycle 73 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12434154|PMID:12960210|PMID:14585940|PMID:14985403|PMID:15531515|PMID:16061557|PMID:16199547|PMID:16487440|PMID:16728578|PMID:17065424|PMID:17468190|PMID:17576681|PMID:19332451|PMID:20052758|PMID:20979880|PMID:22703879|PMID:22987117|PMID:23029104|PMID:23293331|PMID:24716902|PMID:24728327|PMID:25444225|PMID:25741868|PMID:26121439|PMID:26580448|PMID:27679651|PMID:28492532|PMID:28833384|PMID:28870973|PMID:28881068|PMID:29040582|PMID:29225260|PMID:29324469|PMID:29641532|PMID:30262796|PMID:32590342|PMID:33332384|PMID:9536098 11702817 CDC73 cell division cycle 73 gene DOID:9007696 Parathyroid Cancer ISO RGD:1323393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid cancer PMID:25741868|PMID:28492532 11702817 CDC73 cell division cycle 73 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1323393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:12434154|PMID:22187299|PMID:23293331|PMID:25741868|PMID:25959515|PMID:28492532 11702817 CDC73 cell division cycle 73 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11702817 CDC73 cell division cycle 73 gene DOID:9256 colorectal cancer ameliorates ISO RGD:1323393 D RGD:9068941 20211231 RGD mRNA:increased expression:colorectum (human) PMID:21315421|REF_RGD_ID:150539448 11702843 SLC8A1 solute carrier family 8 member A1 gene DOID:10652 Alzheimer's disease ISO RGD:731021 D RGD:9068941 20200609 RGD protein:altered expression:synaptosome: PMID:21382638|REF_RGD_ID:13628395 11702843 SLC8A1 solute carrier family 8 member A1 gene DOID:10763 hypertension ISO RGD:3717 D RGD:9068941 20200609 RGD PMID:16343576|REF_RGD_ID:1598724 11702843 SLC8A1 solute carrier family 8 member A1 gene DOID:10763 hypertension ISO RGD:731021 D RGD:9068941 20200609 RGD DNA:SNP: :1784C>T PMID:15824464|REF_RGD_ID:1580586 11702843 SLC8A1 solute carrier family 8 member A1 gene DOID:10763 hypertension ISO RGD:731021 D RGD:9068941 20200609 RGD DNA:snps:intron:g.-23200T>C, g.-23181T>C (human) PMID:15785003|REF_RGD_ID:1580732 11702843 SLC8A1 solute carrier family 8 member A1 gene DOID:11372 megacolon ISO RGD:731021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11702843 SLC8A1 solute carrier family 8 member A1 gene DOID:12930 dilated cardiomyopathy ISO RGD:731022 D RGD:9068941 20200609 RGD PMID:23436819|REF_RGD_ID:10053661 11702843 SLC8A1 solute carrier family 8 member A1 gene DOID:1824 status epilepticus ISO RGD:3717 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:15461673|REF_RGD_ID:2316980 11702843 SLC8A1 solute carrier family 8 member A1 gene DOID:1824 status epilepticus ISO RGD:731021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20888801 11702843 SLC8A1 solute carrier family 8 member A1 gene DOID:2316 brain ischemia ISO RGD:3717 D RGD:9068941 20200609 RGD PMID:22036625|REF_RGD_ID:6771236 11702843 SLC8A1 solute carrier family 8 member A1 gene DOID:2316 brain ischemia ISO RGD:3717 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex (rat) PMID:12377375|REF_RGD_ID:727449 11702843 SLC8A1 solute carrier family 8 member A1 gene DOID:2316 brain ischemia ISO RGD:3717 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17662498|REF_RGD_ID:1642717 11702843 SLC8A1 solute carrier family 8 member A1 gene DOID:3883 Lynch syndrome ISO RGD:731021 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11702843 SLC8A1 solute carrier family 8 member A1 gene DOID:6000 congestive heart failure ISO RGD:3717 D RGD:9068941 20200609 RGD protein:increased expression:cardiac muscle cell PMID:17536604|REF_RGD_ID:1642720 11702843 SLC8A1 solute carrier family 8 member A1 gene DOID:630 genetic disease ISO RGD:731021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11702843 SLC8A1 solute carrier family 8 member A1 gene DOID:6432 pulmonary hypertension ISO RGD:731021 D RGD:9068941 20200609 RGD protein:increased expression:pulmonary artery, smooth muscle cell PMID:17192285|REF_RGD_ID:1642711 11702843 SLC8A1 solute carrier family 8 member A1 gene DOID:9003936 Cardiomegaly ISO RGD:3717 D RGD:9068941 20200609 RGD associated with Hypertension;protein:decreased activity:heart left ventricle, cardiac muscle cell PMID:15615841|REF_RGD_ID:1642713 11702843 SLC8A1 solute carrier family 8 member A1 gene DOID:9003936 Cardiomegaly ISO RGD:731022 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:heart PMID:17446477|REF_RGD_ID:1642725 11702843 SLC8A1 solute carrier family 8 member A1 gene DOID:9004009 Reperfusion Injury ISO RGD:3717 D RGD:9068941 20200609 RGD PMID:18037393|REF_RGD_ID:2316975 11702843 SLC8A1 solute carrier family 8 member A1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11702843 SLC8A1 solute carrier family 8 member A1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3717 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cardiac muscle cell PMID:10944172|REF_RGD_ID:1642714 11702843 SLC8A1 solute carrier family 8 member A1 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:3717 D RGD:9068941 20200609 RGD PMID:27058979|REF_RGD_ID:13628396 11702843 SLC8A1 solute carrier family 8 member A1 gene DOID:9007102 Myocardial Ischemia ISO RGD:731021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11702843 SLC8A1 solute carrier family 8 member A1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3717 D RGD:9068941 20200609 RGD PMID:17267548|REF_RGD_ID:1642729 11702843 SLC8A1 solute carrier family 8 member A1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3717 D RGD:9068941 20200609 RGD protein:increased activity:cardiac muscle cell PMID:17822695|REF_RGD_ID:1642716 11702843 SLC8A1 solute carrier family 8 member A1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15215644 11702858 AQP4 aquaporin 4 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1553166 D RGD:9068941 20200609 RGD PMID:20680099|REF_RGD_ID:5148028 11702858 AQP4 aquaporin 4 gene DOID:0060041 autism spectrum disorder ISO RGD:735519 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11702858 AQP4 aquaporin 4 gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:735519 D RGD:9068941 20200609 RGD PMID:20680636|REF_RGD_ID:5148026 11702858 AQP4 aquaporin 4 gene DOID:0080743 transverse myelitis ISO RGD:735519 D RGD:9068941 20200609 RGD PMID:21771203|PMID:23999580|REF_RGD_ID:5148008|REF_RGD_ID:8696028 11702858 AQP4 aquaporin 4 gene DOID:0080855 Parkinsonism severity ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:21255222|REF_RGD_ID:5148006 11702858 AQP4 aquaporin 4 gene DOID:1059 intellectual disability ISO RGD:735519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11702858 AQP4 aquaporin 4 gene DOID:10652 Alzheimer's disease ISO RGD:735519 D RGD:9068941 20200609 RGD PMID:21107133|REF_RGD_ID:5148012 11702858 AQP4 aquaporin 4 gene DOID:10763 hypertension ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:20156423|REF_RGD_ID:5148031 11702858 AQP4 aquaporin 4 gene DOID:10908 hydrocephalus disease_progression ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:21135737|REF_RGD_ID:5148011 11702858 AQP4 aquaporin 4 gene DOID:1210 optic neuritis ISO RGD:735519 D RGD:9068941 20200609 RGD PMID:22157536|REF_RGD_ID:9685553 11702858 AQP4 aquaporin 4 gene DOID:1210 optic neuritis disease_progression ISO RGD:735519 D RGD:9068941 20200609 RGD PMID:23024849|REF_RGD_ID:8696036 11702858 AQP4 aquaporin 4 gene DOID:12236 primary biliary cholangitis ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:20451280|REF_RGD_ID:5148030 11702858 AQP4 aquaporin 4 gene DOID:12365 malaria ISO RGD:10183 D RGD:9068941 20220825 MouseDO OMIM:609148 | OMIM:611162 11702858 AQP4 aquaporin 4 gene DOID:12849 autistic disorder ISO RGD:735519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18435417 11702858 AQP4 aquaporin 4 gene DOID:13141 uveitis ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:20383338|REF_RGD_ID:5148029 11702858 AQP4 aquaporin 4 gene DOID:13141 uveitis ISO RGD:2143 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:21724913|REF_RGD_ID:5490118 11702858 AQP4 aquaporin 4 gene DOID:14069 cerebral malaria disease_progression ISO RGD:10183 D RGD:9068941 20200609 RGD protein:increased expression:astrocyte: PMID:21904632|REF_RGD_ID:8698661 11702858 AQP4 aquaporin 4 gene DOID:1432 blindness ISO RGD:735519 D RGD:9068941 20200609 RGD associated with Multiple Sclerosis, Relapsing-Remitting; PMID:17702782|REF_RGD_ID:8696024 11702858 AQP4 aquaporin 4 gene DOID:1727 retinal vein occlusion ISO RGD:2143 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina PMID:21487926|REF_RGD_ID:5490120 11702858 AQP4 aquaporin 4 gene DOID:1824 status epilepticus ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:22361023|REF_RGD_ID:8695999 11702858 AQP4 aquaporin 4 gene DOID:1824 status epilepticus ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:20886625|REF_RGD_ID:5148023 11702858 AQP4 aquaporin 4 gene DOID:1824 status epilepticus ISO RGD:735519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20886625 11702858 AQP4 aquaporin 4 gene DOID:1824 status epilepticus severity ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:22361023|REF_RGD_ID:8695999 11702858 AQP4 aquaporin 4 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:24773551|REF_RGD_ID:13207320 11702858 AQP4 aquaporin 4 gene DOID:2316 brain ischemia ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:19616516|REF_RGD_ID:5490152 11702858 AQP4 aquaporin 4 gene DOID:3275 thymoma ISO RGD:735519 D RGD:9068941 20200609 RGD associated with Myasthenia Gravis PMID:20728226|REF_RGD_ID:5148025 11702858 AQP4 aquaporin 4 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:2143 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord PMID:19089902|REF_RGD_ID:5490153 11702858 AQP4 aquaporin 4 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:2143 D RGD:9068941 20200609 RGD protein:increased expression:brainstem PMID:22987392|REF_RGD_ID:8662893 11702858 AQP4 aquaporin 4 gene DOID:3328 temporal lobe epilepsy ISO RGD:735519 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:19864112|REF_RGD_ID:5148036 11702858 AQP4 aquaporin 4 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2143 D RGD:9068941 20221110 RGD PMID:20815926|PMID:33127515|REF_RGD_ID:155646130|REF_RGD_ID:8695955 11702858 AQP4 aquaporin 4 gene DOID:3910 lung adenocarcinoma ISO RGD:735519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11702858 AQP4 aquaporin 4 gene DOID:4724 brain edema ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:21187412|REF_RGD_ID:5148010 11702858 AQP4 aquaporin 4 gene DOID:4724 brain edema ISO RGD:10183 D RGD:9068941 20200609 RGD associated with Drug-Induced Liver Injury;protein:increased expression:cerebral cortex PMID:20938728|REF_RGD_ID:5148020 11702858 AQP4 aquaporin 4 gene DOID:4724 brain edema ISO RGD:2143 D RGD:9068941 20200609 RGD associated with Anoxia PMID:21560328|REF_RGD_ID:5148033 11702858 AQP4 aquaporin 4 gene DOID:4724 brain edema ISO RGD:2143 D RGD:9068941 20200609 RGD associated with Cerebral Hemorrhage PMID:20541575|REF_RGD_ID:5490126 11702858 AQP4 aquaporin 4 gene DOID:4724 brain edema ISO RGD:2143 D RGD:9068941 20200609 RGD associated with Drug-Induced Liver Injury;protein:increased expression:cerebral cortex, astrocyte, plasma membrane PMID:20720509|REF_RGD_ID:5490122 11702858 AQP4 aquaporin 4 gene DOID:4724 brain edema ISO RGD:2143 D RGD:9068941 20200609 RGD associated with Embolism, Fat;protein:increased expression:brain PMID:20111877|REF_RGD_ID:5490129 11702858 AQP4 aquaporin 4 gene DOID:5679 retinal disease ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:18836575|REF_RGD_ID:5490154 11702858 AQP4 aquaporin 4 gene DOID:630 genetic disease ISO RGD:735519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11702858 AQP4 aquaporin 4 gene DOID:636 central pontine myelinolysis ISO RGD:735519 D RGD:9068941 20200609 RGD protein:altered expression:basal part of pons: PMID:24252214|REF_RGD_ID:8696006 11702858 AQP4 aquaporin 4 gene DOID:8869 neuromyelitis optica ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:22271321|PMID:23995423|REF_RGD_ID:8695993|REF_RGD_ID:8696034 11702858 AQP4 aquaporin 4 gene DOID:8869 neuromyelitis optica ISO RGD:735519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18509235|PMID:24070676 11702858 AQP4 aquaporin 4 gene DOID:8869 neuromyelitis optica ISO RGD:735519 D RGD:9068941 20200609 RGD PMID:16087714|PMID:20047900|PMID:23890015|REF_RGD_ID:5148024|REF_RGD_ID:5148032|REF_RGD_ID:8696026 11702858 AQP4 aquaporin 4 gene DOID:8869 neuromyelitis optica ISO RGD:735519 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-1003A>G(human) PMID:23116879|REF_RGD_ID:8696032 11702858 AQP4 aquaporin 4 gene DOID:8869 neuromyelitis optica disease_progression ISO RGD:735519 D RGD:9068941 20200609 RGD associated withHiccup; PMID:18420727|REF_RGD_ID:8696033 11702858 AQP4 aquaporin 4 gene DOID:8947 diabetic retinopathy ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:22449442|REF_RGD_ID:8695996 11702858 AQP4 aquaporin 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:20517941|PMID:21280976|REF_RGD_ID:5148027|REF_RGD_ID:5148035 11702858 AQP4 aquaporin 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:21092735|REF_RGD_ID:5148013 11702858 AQP4 aquaporin 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:735519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21092735 11702858 AQP4 aquaporin 4 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:10183 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:15695511|REF_RGD_ID:8698660 11702858 AQP4 aquaporin 4 gene DOID:9000113 Pneumococcal Meningitis treatment ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:15695511|REF_RGD_ID:8698660 11702858 AQP4 aquaporin 4 gene DOID:9000307 Presbycusis severity ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:19070604|REF_RGD_ID:8695953 11702858 AQP4 aquaporin 4 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:2143 D RGD:9068941 20220121 RGD mRNA:increased expression:brain: PMID:33574749|REF_RGD_ID:127284879 11702858 AQP4 aquaporin 4 gene DOID:9000438 Subarachnoid Hemorrhage exacerbates ISO RGD:2143 D RGD:9068941 20220121 RGD PMID:33574749|REF_RGD_ID:127284879 11702858 AQP4 aquaporin 4 gene DOID:9000998 Brain Injuries ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:21488209|REF_RGD_ID:5148034 11702858 AQP4 aquaporin 4 gene DOID:9000998 Brain Injuries ISO RGD:2143 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:21083433|REF_RGD_ID:5148014 11702858 AQP4 aquaporin 4 gene DOID:9002211 Hyperalgesia ISO RGD:2143 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries;mRNA,protein:increased expression:brain,spinal cord: PMID:16219025|REF_RGD_ID:8695957 11702858 AQP4 aquaporin 4 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:25545558|REF_RGD_ID:11541062 11702858 AQP4 aquaporin 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:23707078|REF_RGD_ID:8696030 11702858 AQP4 aquaporin 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis disease_progression ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:21056916|REF_RGD_ID:5148015 11702858 AQP4 aquaporin 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis disease_progression ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:21157915|REF_RGD_ID:5490117 11702858 AQP4 aquaporin 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis severity ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:19660138|REF_RGD_ID:5490116 11702858 AQP4 aquaporin 4 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:17454447|REF_RGD_ID:8698664 11702858 AQP4 aquaporin 4 gene DOID:9004009 Reperfusion Injury ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:19806476|PMID:20924629|REF_RGD_ID:5148022|REF_RGD_ID:5148037 11702858 AQP4 aquaporin 4 gene DOID:9004009 Reperfusion Injury ISO RGD:2143 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:parietal cortex PMID:21718723|REF_RGD_ID:5684013 11702858 AQP4 aquaporin 4 gene DOID:9004009 Reperfusion Injury ISO RGD:2143 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:20979759|REF_RGD_ID:5148016 11702858 AQP4 aquaporin 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2143 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:retina: PMID:22449442|REF_RGD_ID:8695996 11702858 AQP4 aquaporin 4 gene DOID:9005754 Hypoalgesia ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:20851747|REF_RGD_ID:8696005 11702858 AQP4 aquaporin 4 gene DOID:9006089 Opticospinal Multiple Sclerosis ISO RGD:735519 D RGD:9068941 20200609 RGD PMID:17468440|REF_RGD_ID:8698645 11702858 AQP4 aquaporin 4 gene DOID:9006205 Animal Disease Models ISO RGD:735519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11702858 AQP4 aquaporin 4 gene DOID:9008091 Optic Nerve Injuries ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:20216911|REF_RGD_ID:2326035 11702858 AQP4 aquaporin 4 gene DOID:9008681 Deafness ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:11406631|REF_RGD_ID:734598 11702858 AQP4 aquaporin 4 gene DOID:9246 cerebral amyloid angiopathy ISO RGD:735519 D RGD:9068941 20200609 RGD PMID:21107133|REF_RGD_ID:5148012 11702858 AQP4 aquaporin 4 gene DOID:9282 ocular hypertension ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:22943863|REF_RGD_ID:8698651 11702858 AQP4 aquaporin 4 gene DOID:9351 diabetes mellitus ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:19748503|REF_RGD_ID:2316076 11702858 AQP4 aquaporin 4 gene DOID:9849 Meniere's disease ISO RGD:735519 D RGD:9068941 20200609 RGD protein:decreased expression:macula of utricle of membranous labyrinth: PMID:20461409|REF_RGD_ID:8696022 11702858 AQP4 aquaporin 4 gene DOID:9849 Meniere's disease susceptibility ISO RGD:735519 D RGD:9068941 20200609 RGD DNA:conservative mutation:cds:c.105G>C(human) PMID:21063116|REF_RGD_ID:8696023 11702868 PPIL6 peptidylprolyl isomerase like 6 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1352974 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 11702868 PPIL6 peptidylprolyl isomerase like 6 gene DOID:630 genetic disease ISO RGD:1352974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11702891 CAPS2 calcyphosine 2 gene DOID:630 genetic disease ISO RGD:1320373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11702913 SI sucrase-isomaltase gene DOID:0060180 colitis ISO RGD:3675 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:ileum PMID:16964428|REF_RGD_ID:1625545 11702913 SI sucrase-isomaltase gene DOID:0111633 congenital sucrase-isomaltase deficiency ISO RGD:1352166 D RGD:7240710 20180130 OMIM 11702913 SI sucrase-isomaltase gene DOID:0111633 congenital sucrase-isomaltase deficiency ISO RGD:1352166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sucrase-isomaltase deficiency PMID:12624106|PMID:15944403|PMID:16199547|PMID:16329100|PMID:17576681|PMID:19121318|PMID:19680155|PMID:23103650|PMID:24033266|PMID:25452324|PMID:25741868|PMID:26812950|PMID:27579322|PMID:27749612|PMID:27872184|PMID:28062276|PMID:28492532|PMID:29408290|PMID:8609217|PMID:9092938|PMID:9536098 11702913 SI sucrase-isomaltase gene DOID:10283 prostate cancer ISO RGD:1352166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11702913 SI sucrase-isomaltase gene DOID:630 genetic disease ISO RGD:1352166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16329100|PMID:19121318|PMID:23103650|PMID:24033266|PMID:25452324|PMID:25741868|PMID:27579322|PMID:27872184|PMID:28062276|PMID:28492532|PMID:29408290 11702913 SI sucrase-isomaltase gene DOID:9004009 Reperfusion Injury ISO RGD:3675 D RGD:9068941 20200609 RGD PMID:9724271|REF_RGD_ID:1625550 11702913 SI sucrase-isomaltase gene DOID:9005587 Starvation ISO RGD:3675 D RGD:9068941 20200609 RGD PMID:10864000|REF_RGD_ID:1625548 11702913 SI sucrase-isomaltase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3675 D RGD:9068941 20200609 RGD protein:increased expression:small intestine mucosa PMID:12940455|REF_RGD_ID:1625543 11702913 SI sucrase-isomaltase gene DOID:9007692 Insulin Resistance ISO RGD:3675 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;mRNA:increased expression:small intestine PMID:9878708|REF_RGD_ID:1625544 11702965 LOC100973465 sulfotransferase 1B1 gene DOID:0060041 autism spectrum disorder ISO RGD:1354463 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11702965 LOC100973465 sulfotransferase 1B1 gene DOID:630 genetic disease ISO RGD:1354463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11702965 LOC100973465 sulfotransferase 1B1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1354463 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11702977 TMX1 thioredoxin related transmembrane protein 1 gene DOID:0080600 COVID-19 ISO RGD:1318232 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11702977 TMX1 thioredoxin related transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:1318232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11702989 PEBP4 phosphatidylethanolamine binding protein 4 gene DOID:630 genetic disease ISO RGD:1606949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11702989 PEBP4 phosphatidylethanolamine binding protein 4 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1606949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 11703003 MCOLN2 mucolipin TRP cation channel 2 gene DOID:630 genetic disease ISO RGD:1318909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703026 AR androgen receptor gene DOID:0050856 oppositional defiant disorder ISO RGD:735652 D RGD:9068941 20200609 RGD associated with Tourette Syndrome;DNA:repeats, haplotypes PMID:10380986|REF_RGD_ID:6907129 11703026 AR androgen receptor gene DOID:0060074 ductal carcinoma in situ ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:17543076|REF_RGD_ID:1643341 11703026 AR androgen receptor gene DOID:0060161 Kennedy's disease ISO RGD:735652 D RGD:7240710 20180130 OMIM 11703026 AR androgen receptor gene DOID:0060161 Kennedy's disease ISO RGD:735652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bulbospinal neuronopathy X-linked recessive | ClinVar Annotator: match by term: Kennedy disease PMID:16804045|PMID:25741868|PMID:28492532 11703026 AR androgen receptor gene DOID:0060161 Kennedy's disease treatment ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:26942099|REF_RGD_ID:11576229 11703026 AR androgen receptor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11703026 AR androgen receptor gene DOID:0070168 spermatogenic failure 3 ISO RGD:735652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:28492532 11703026 AR androgen receptor gene DOID:0080776 partial androgen insensitivity syndrome ISO RGD:735652 D RGD:7240710 20200916 OMIM 11703026 AR androgen receptor gene DOID:0080776 partial androgen insensitivity syndrome ISO RGD:735652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Androgen insensitivity, partial, with breast cancer | ClinVar Annotator: match by term: Partial androgen insensitivity syndrome PMID:10221692|PMID:10485299|PMID:10543676|PMID:10999818|PMID:11788616|PMID:11788673|PMID:1303262|PMID:1430233|PMID:15001585|PMID:15109605|PMID:15925895|PMID:1598912|PMID:16083860|PMID:16450583|PMID:16804045|PMID:20011049|PMID:2010552|PMID:23808476|PMID:24321103|PMID:24737579|PMID:25241384|PMID:25326637|PMID:25741868|PMID:26778393|PMID:27267075|PMID:27854360|PMID:28186600|PMID:28261839|PMID:28492532|PMID:28624954|PMID:2918059|PMID:30668521|PMID:32985417|PMID:33750429|PMID:7581399|PMID:8040309|PMID:8096390|PMID:8097257|PMID:8281139|PMID:8325932|PMID:8446106|PMID:8823308|PMID:8824883|PMID:9345099|PMID:9543136|PMID:9768671|PMID:9851768 11703026 AR androgen receptor gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18985049|PMID:24740322|PMID:28500234|PMID:28757136 11703026 AR androgen receptor gene DOID:0090122 aromatase excess syndrome ISO RGD:735652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gynecomastia, familial PMID:16804045|PMID:28492532 11703026 AR androgen receptor gene DOID:0111152 multicentric Castleman disease ISO RGD:735652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: TAFRO syndrome PMID:16804045|PMID:28492532 11703026 AR androgen receptor gene DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome ISO RGD:735652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aplasia of the uterus PMID:25741868 11703026 AR androgen receptor gene DOID:10283 prostate cancer ISO RGD:735652 D RGD:7240710 20180418 OMIM 11703026 AR androgen receptor gene DOID:10283 prostate cancer ISO RGD:735652 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:10589774|PMID:11103816|PMID:1631125|PMID:1779964|PMID:25741868|PMID:28492532|PMID:7795646|PMID:8530589|PMID:8824883|PMID:9851768 11703026 AR androgen receptor gene DOID:10283 prostate cancer no_association ISO RGD:735652 D RGD:9068941 20200609 RGD african-american men PMID:15479493|REF_RGD_ID:1578686 11703026 AR androgen receptor gene DOID:10283 prostate cancer treatment ISO RGD:2147 D RGD:9068941 20200609 RGD PMID:17049844|REF_RGD_ID:10043311 11703026 AR androgen receptor gene DOID:10283 prostate cancer treatment ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:17049844|REF_RGD_ID:10043311 11703026 AR androgen receptor gene DOID:10763 hypertension ISO RGD:2147 D RGD:9068941 20200609 RGD PMID:15746697|REF_RGD_ID:1601245 11703026 AR androgen receptor gene DOID:10763 hypertension ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10523385 11703026 AR androgen receptor gene DOID:10763 hypertension treatment ISO RGD:2147 D RGD:9068941 20200609 RGD PMID:12397037|REF_RGD_ID:10043316 11703026 AR androgen receptor gene DOID:10892 hypospadias ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:15472213|REF_RGD_ID:1578685 11703026 AR androgen receptor gene DOID:10892 hypospadias ISO RGD:735652 D RGD:9068941 20200609 RGD mRNA:decreased expression:mucosa of urethra PMID:23386417|REF_RGD_ID:11576230 11703026 AR androgen receptor gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:735652 D RGD:9068941 20200609 RGD associated with Tourette Syndrome;DNA:repeats, haplotypes PMID:10380986|REF_RGD_ID:6907129 11703026 AR androgen receptor gene DOID:11132 prostatic hypertrophy treatment ISO RGD:2147 D RGD:9068941 20200609 RGD PMID:22430536|PMID:24872436|REF_RGD_ID:10043335|REF_RGD_ID:10045676 11703026 AR androgen receptor gene DOID:11383 cryptorchidism ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:15472213|REF_RGD_ID:1578685 11703026 AR androgen receptor gene DOID:11383 cryptorchidism ISO RGD:735652 D RGD:9068941 20200609 RGD DNA:repeats:exon PMID:15757859|REF_RGD_ID:11576231 11703026 AR androgen receptor gene DOID:11476 osteoporosis treatment ISO RGD:10187 D RGD:9068941 20200609 RGD PMID:18847323|REF_RGD_ID:10043198 11703026 AR androgen receptor gene DOID:11476 osteoporosis treatment ISO RGD:2147 D RGD:9068941 20200609 RGD PMID:14600402|REF_RGD_ID:10043196 11703026 AR androgen receptor gene DOID:11612 polycystic ovary syndrome no_association ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:15950642|REF_RGD_ID:1578688 11703026 AR androgen receptor gene DOID:11714 gestational diabetes ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20421132 11703026 AR androgen receptor gene DOID:12336 male infertility ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12220434|PMID:18554162|PMID:20164437 11703026 AR androgen receptor gene DOID:12377 spinal muscular atrophy ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:10400640|REF_RGD_ID:1578680 11703026 AR androgen receptor gene DOID:1240 leukemia ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19235587 11703026 AR androgen receptor gene DOID:127 leiomyoma ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:15704521|REF_RGD_ID:1578690 11703026 AR androgen receptor gene DOID:12849 autistic disorder ISO RGD:735652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11703026 AR androgen receptor gene DOID:12995 conduct disorder ISO RGD:735652 D RGD:9068941 20200609 RGD associated with Tourette Syndrome;DNA:repeats, haplotypes PMID:10380986|REF_RGD_ID:6907129 11703026 AR androgen receptor gene DOID:1380 endometrial cancer ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:15721279|REF_RGD_ID:1578689 11703026 AR androgen receptor gene DOID:14448 46,XY sex reversal ISO RGD:735652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY PMID:11549642|PMID:25741868|PMID:27899157 11703026 AR androgen receptor gene DOID:14499 Fabry disease treatment ISO RGD:10187 D RGD:9068941 20200609 RGD PMID:25701874|REF_RGD_ID:11576234 11703026 AR androgen receptor gene DOID:2394 ovarian cancer ISO RGD:735652 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 11703026 AR androgen receptor gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:2147 D RGD:9068941 20200609 RGD PMID:18439064|REF_RGD_ID:10043341 11703026 AR androgen receptor gene DOID:289 endometriosis no_association ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:15120698|REF_RGD_ID:1578684 11703026 AR androgen receptor gene DOID:3008 invasive ductal carcinoma severity ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:16075292|REF_RGD_ID:1643344 11703026 AR androgen receptor gene DOID:3021 acute kidney failure ISO RGD:2147 D RGD:9068941 20200609 RGD PMID:24503548|REF_RGD_ID:11570523 11703026 AR androgen receptor gene DOID:3069 malignant astrocytoma ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24680642 11703026 AR androgen receptor gene DOID:3764 Denys-Drash syndrome ISO RGD:10187 D RGD:9068941 20200609 RGD protein:decreased expression:sertoli cell PMID:16245160|REF_RGD_ID:1643343 11703026 AR androgen receptor gene DOID:4674 androgen insensitivity syndrome ISO RGD:735652 D RGD:7240710 20180130 OMIM 11703026 AR androgen receptor gene DOID:4674 androgen insensitivity syndrome ISO RGD:735652 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Androgen resistance syndrome | ClinVar Annotator: match by term: Dihydrotestosterone receptor deficiency PMID:10022458|PMID:10092153|PMID:10221692|PMID:10221770|PMID:10323251|PMID:10323385|PMID:10359561|PMID:10425033|PMID:10458483|PMID:10571951|PMID:10690872|PMID:10834333|PMID:10840043|PMID:11181525|PMID:11225909|PMID:11376111|PMID:11397856|PMID:11549642|PMID:11579211|PMID:1158706|PMID:11744994|PMID:11788616|PMID:11788645|PMID:11788673|PMID:11889162|PMID:12068007|PMID:12213902|PMID:12466388|PMID:12644579|PMID:12705360|PMID:12843171|PMID:1303262|PMID:1307250|PMID:1430233|PMID:1458719|PMID:14701682|PMID:1480178|PMID:14974091|PMID:1508223|PMID:15109605|PMID:15266301|PMID:15531547|PMID:15541764|PMID:1569163|PMID:15925895|PMID:15963062|PMID:1598912|PMID:16083860|PMID:1609793|PMID:16199547|PMID:16283146|PMID:16365032|PMID:16373394|PMID:16450583|PMID:16470553|PMID:16804045|PMID:17161333|PMID:1720929|PMID:17382127|PMID:1750490|PMID:17576681|PMID:1775137|PMID:17937062|PMID:17970778|PMID:18406699|PMID:18710728|PMID:19463997|PMID:20007693|PMID:20011049|PMID:20056211|PMID:20150575|PMID:20305676|PMID:20493947|PMID:20671138|PMID:2082179|PMID:21520333|PMID:21710452|PMID:21962961|PMID:22334387|PMID:22412043|PMID:22799610|PMID:2293020|PMID:22995991|PMID:23106833|PMID:2332504|PMID:2339702|PMID:23637914|PMID:23774508|PMID:24033266|PMID:24186138|PMID:24321103|PMID:24737579|PMID:24790346|PMID:25241384|PMID:25248670|PMID:25326637|PMID:25433660|PMID:25613104|PMID:25640679|PMID:25674389|PMID:25741868|PMID:2594783|PMID:26303084|PMID:26688387|PMID:26778393|PMID:26806084|PMID:26813233|PMID:26980296|PMID:27051040|PMID:27267075|PMID:27284311|PMID:27403927|PMID:27583472|PMID:27849622|PMID:27854360|PMID:27899157|PMID:27989800|PMID:28186600|PMID:28261839|PMID:28456808|PMID:28492532|PMID:28611373|PMID:28624954|PMID:28659371|PMID:28743543|PMID:28857053|PMID:28947719|PMID:29051026|PMID:29758562|PMID:29785970|PMID:30064134|PMID:30113450|PMID:30165367|PMID:30316867|PMID:30401990|PMID:30599484|PMID:30668521|PMID:30815925|PMID:31012339|PMID:31373714|PMID:31429517|PMID:31499074|PMID:3174628|PMID:3186717|PMID:3216866|PMID:32229106|PMID:32345305|PMID:32985417|PMID:33505695|PMID:33514065|PMID:33750429|PMID:33819955|PMID:34276780|PMID:35561789|PMID:4061484|PMID:7537149|PMID:7581399|PMID:7626493|PMID:7633398|PMID:7641413|PMID:7671849|PMID:7723794|PMID:7910529|PMID:7970939|PMID:7981687|PMID:8033918|PMID:8040309|PMID:8096390|PMID:8097257|PMID:8126121|PMID:8162033|PMID:8325932|PMID:8413310|PMID:8450040|PMID:8450042|PMID:8626869|PMID:8647313|PMID:8723113|PMID:8809734|PMID:8824883|PMID:8990010|PMID:9007482|PMID:9039340|PMID:9196614|PMID:9302173|PMID:9328206|PMID:9332480|PMID:9360511|PMID:9463997|PMID:9536098|PMID:9543136|PMID:9544375|PMID:9554754|PMID:9576916|PMID:9627582|PMID:9698822|PMID:9768671|PMID:9788719|PMID:9851768|PMID:9856504 11703026 AR androgen receptor gene DOID:48 male reproductive system disease ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25434310 11703026 AR androgen receptor gene DOID:630 genetic disease ISO RGD:735652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10359561|PMID:28261839|PMID:28492532 11703026 AR androgen receptor gene DOID:684 hepatocellular carcinoma ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18639551 11703026 AR androgen receptor gene DOID:8634 prostate carcinoma in situ ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20601956 11703026 AR androgen receptor gene DOID:9000357 Male Breast Neoplasms ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1303262|PMID:8281139 11703026 AR androgen receptor gene DOID:9000357 Male Breast Neoplasms disease_progression ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:14555518|REF_RGD_ID:1643345 11703026 AR androgen receptor gene DOID:9000466 Prostate Cancer, Somatic ISO RGD:735652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate cancer, somatic PMID:1631125|PMID:1779964|PMID:28492532|PMID:6541981|PMID:7723794|PMID:7795646|PMID:8187068 11703026 AR androgen receptor gene DOID:9000779 Hypospadias 1, X-Linked ISO RGD:735652 D RGD:7240710 20180130 OMIM 11703026 AR androgen receptor gene DOID:9000779 Hypospadias 1, X-Linked ISO RGD:735652 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hypospadias 1, X-linked PMID:20305676|PMID:25326637|PMID:25741868|PMID:28261839|PMID:28492532|PMID:29758562|PMID:7981687|PMID:8033918|PMID:8097257|PMID:8683794|PMID:8723113|PMID:9332480 11703026 AR androgen receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11742035|PMID:12237244|PMID:15389811|PMID:15790600|PMID:16266977|PMID:16877366|PMID:16934689|PMID:16998812|PMID:17003774|PMID:17141945|PMID:18829485|PMID:19011039|PMID:20729295|PMID:22610119|PMID:22666205|PMID:23704919|PMID:25062956|PMID:25735316|PMID:25908785|PMID:25970160|PMID:29610475 11703026 AR androgen receptor gene DOID:9002304 Prostatic Neoplasms onset ISO RGD:10187 D RGD:9068941 20200609 RGD PMID:17906287|REF_RGD_ID:2293867 11703026 AR androgen receptor gene DOID:9002331 Knee Osteoarthritis ISO RGD:735652 D RGD:9068941 20200609 RGD DNA:repeat:exon:c.172(CAG)8-34 (human) PMID:16098017|REF_RGD_ID:10043199 11703026 AR androgen receptor gene DOID:9003315 Lubs Syndrome ISO RGD:735652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type I familial incomplete male pseudohermaphroditism PMID:16804045|PMID:28492532 11703026 AR androgen receptor gene DOID:9003555 Androgen Insensitivity Syndrome due to Coactivator Deficiency ISO RGD:735652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Androgen insensitivity syndrome due to coactivator deficiency PMID:16804045|PMID:28492532 11703026 AR androgen receptor gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:12593895|REF_RGD_ID:1578682 11703026 AR androgen receptor gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11742035 11703026 AR androgen receptor gene DOID:9005172 Lung Neoplasms ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30008631 11703026 AR androgen receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2147 D RGD:9068941 20200609 RGD PMID:12150826|REF_RGD_ID:6482679 11703026 AR androgen receptor gene DOID:9005539 Familial Prostate Cancer ISO RGD:735652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate cancer susceptibility PMID:10589774|PMID:11103816|PMID:8530589 11703026 AR androgen receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10187 D RGD:9068941 20200609 RGD protein:decreased expression:pancreatic B cell PMID:18543106|REF_RGD_ID:2306772 11703026 AR androgen receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2147 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:epididymis, prostate gland, testis PMID:16398356|REF_RGD_ID:2306774 11703026 AR androgen receptor gene DOID:9007181 Osteoporotic Fractures susceptibility ISO RGD:735652 D RGD:9068941 20200609 RGD DNA:repeat:exon:g.6287(CAG)7-34 (human) PMID:14667136|REF_RGD_ID:10043197 11703026 AR androgen receptor gene DOID:9007456 Female Infertility ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23710174 11703026 AR androgen receptor gene DOID:9007692 Insulin Resistance ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21444647 11703026 AR androgen receptor gene DOID:9007692 Insulin Resistance ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:17332526|REF_RGD_ID:1601244 11703026 AR androgen receptor gene DOID:9007692 Insulin Resistance ISO RGD:735652 D RGD:9068941 20200609 RGD associated with Polycystic Ovary Syndrome;DNA:repeat: :CAG PMID:16793958|REF_RGD_ID:2306773 11703026 AR androgen receptor gene DOID:9008824 Sarcopenia treatment ISO RGD:10187 D RGD:9068941 20200609 RGD PMID:24177288|REF_RGD_ID:10043306 11703026 AR androgen receptor gene DOID:9008824 Sarcopenia treatment ISO RGD:2147 D RGD:9068941 20200609 RGD PMID:17049844|REF_RGD_ID:10043311 11703026 AR androgen receptor gene DOID:9008939 Breast Neoplasms ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21633166|PMID:22174584 11703026 AR androgen receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:10187 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 11703026 AR androgen receptor gene DOID:987 alopecia ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15902657 11703026 AR androgen receptor gene DOID:9970 obesity ISO RGD:10187 D RGD:9068941 20220825 MouseDO OMIM:601665 11703026 AR androgen receptor gene DOID:9970 obesity susceptibility ISO RGD:735652 D RGD:9068941 20200609 RGD DNA:repeats: :GGN, CAG PMID:12532157|REF_RGD_ID:1601246 11703026 AR androgen receptor gene DOID:9970 obesity susceptibility ISO RGD:735652 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:repeat: :CAG PMID:18805913|REF_RGD_ID:2306771 11703038 PPME1 protein phosphatase methylesterase 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1605082 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11703038 PPME1 protein phosphatase methylesterase 1 gene DOID:1059 intellectual disability ISO RGD:1605082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11703038 PPME1 protein phosphatase methylesterase 1 gene DOID:630 genetic disease ISO RGD:1605082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703059 BCL10 BCL10 immune signaling adaptor gene DOID:0050748 marginal zone lymphoma ISO RGD:1347575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11703059 BCL10 BCL10 immune signaling adaptor gene DOID:0050873 follicular lymphoma ISO RGD:1347575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Follicular lymphoma PMID:9989495 11703059 BCL10 BCL10 immune signaling adaptor gene DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue ISO RGD:1347575 D RGD:7240710 20180523 OMIM 11703059 BCL10 BCL10 immune signaling adaptor gene DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue ISO RGD:1347575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MALT lymphoma PMID:10380920|PMID:10408400|PMID:9989495 11703059 BCL10 BCL10 immune signaling adaptor gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1347575 D RGD:7240710 20180130 OMIM 11703059 BCL10 BCL10 immune signaling adaptor gene DOID:0111939 immunodeficiency 37 ISO RGD:1347575 D RGD:7240710 20180130 OMIM 11703059 BCL10 BCL10 immune signaling adaptor gene DOID:0111939 immunodeficiency 37 ISO RGD:1347575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 37 PMID:17576681|PMID:24033266|PMID:25365219|PMID:25741868|PMID:28492532|PMID:32008135|PMID:9536098 11703059 BCL10 BCL10 immune signaling adaptor gene DOID:1520 colon carcinoma ISO RGD:1347575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:9989495 11703059 BCL10 BCL10 immune signaling adaptor gene DOID:1790 malignant mesothelioma ISO RGD:1347575 D RGD:7240710 20180130 OMIM 11703059 BCL10 BCL10 immune signaling adaptor gene DOID:1790 malignant mesothelioma ISO RGD:1347575 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mesothelioma, malignant | ClinVar Annotator: match by term: Mesothelioma, somatic PMID:10380920|PMID:10408400|PMID:25741868|PMID:28492532|PMID:9989495 11703059 BCL10 BCL10 immune signaling adaptor gene DOID:2998 testicular cancer ISO RGD:1347575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of testis PMID:10582682 11703059 BCL10 BCL10 immune signaling adaptor gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1347575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: T-cell acute lymphoblastic leukemia PMID:9989495 11703059 BCL10 BCL10 immune signaling adaptor gene DOID:630 genetic disease ISO RGD:1347575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11703059 BCL10 BCL10 immune signaling adaptor gene DOID:8541 Sezary's disease ISO RGD:1347575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sezary syndrome PMID:9989495 11703059 BCL10 BCL10 immune signaling adaptor gene DOID:9003566 Mesothelioma ISO RGD:1347575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mesothelioma PMID:10380920|PMID:10408400|PMID:9989495 11703059 BCL10 BCL10 immune signaling adaptor gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1347575 D RGD:7240710 20190315 OMIM 11703059 BCL10 BCL10 immune signaling adaptor gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1347575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male germ cell tumor, somatic PMID:10380920|PMID:10408400|PMID:9989495 11703069 DPY19L2 dpy-19 like 2 gene DOID:0111156 spermatogenic failure 9 ISO RGD:1606928 D RGD:7240710 20200610 OMIM 11703069 DPY19L2 dpy-19 like 2 gene DOID:0111156 spermatogenic failure 9 ISO RGD:1606928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 9 PMID:15533374|PMID:21397063|PMID:21397064|PMID:22627659|PMID:22653751|PMID:25741868|PMID:28492532|PMID:33108537 11703069 DPY19L2 dpy-19 like 2 gene DOID:630 genetic disease ISO RGD:1606928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703083 RCL1 RNA terminal phosphate cyclase like 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1313278 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 11703083 RCL1 RNA terminal phosphate cyclase like 1 gene DOID:2468 psychotic disorder ISO RGD:1313278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Psychotic disorder 11703083 RCL1 RNA terminal phosphate cyclase like 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1313278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11703083 RCL1 RNA terminal phosphate cyclase like 1 gene DOID:630 genetic disease ISO RGD:1313278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703083 RCL1 RNA terminal phosphate cyclase like 1 gene DOID:9006205 Animal Disease Models ISO RGD:1313278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11703125 CBY3 chibby family member 3 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:1605449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 11703125 CBY3 chibby family member 3 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1605449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11703125 CBY3 chibby family member 3 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1605449 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11703125 CBY3 chibby family member 3 gene DOID:630 genetic disease ISO RGD:1605449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703131 LCORL ligand dependent nuclear receptor corepressor like gene DOID:630 genetic disease ISO RGD:1604965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703131 LCORL ligand dependent nuclear receptor corepressor like gene DOID:9003996 Birth Weight ISO RGD:1604965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23202124 11703164 AACS acetoacetyl-CoA synthetase gene DOID:630 genetic disease ISO RGD:732340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703164 AACS acetoacetyl-CoA synthetase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:708522 D RGD:9068941 20200609 RGD protein:decreased activity:liver PMID:12034369|REF_RGD_ID:2301022 11703164 AACS acetoacetyl-CoA synthetase gene DOID:9970 obesity ISO RGD:708522 D RGD:9068941 20200609 RGD mRNA:altered expression:thalamus, hypothalamus (rat) PMID:19219059|REF_RGD_ID:2326191 11703191 METTL16 methyltransferase 16, N6-methyladenosine gene DOID:630 genetic disease ISO RGD:1604299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703191 METTL16 methyltransferase 16, N6-methyladenosine gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11703204 LOC100986445 ras-related protein Rab-40A-like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:2291808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11703204 LOC100986445 ras-related protein Rab-40A-like gene DOID:0060830 deafness-intellectual disability, Martin-Probst type syndrome ISO RGD:2291808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness-intellectual disability, Martin-Probst type syndrome PMID:22581972|PMID:24863632|PMID:25044830|PMID:25741868 11703204 LOC100986445 ras-related protein Rab-40A-like gene DOID:12849 autistic disorder ISO RGD:2291808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11703204 LOC100986445 ras-related protein Rab-40A-like gene DOID:1561 cognitive disorder ISO RGD:2291808 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:22581972 11703204 LOC100986445 ras-related protein Rab-40A-like gene DOID:630 genetic disease ISO RGD:2291808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703204 LOC100986445 ras-related protein Rab-40A-like gene DOID:9001487 Facies ISO RGD:2291808 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:22581972 11703204 LOC100986445 ras-related protein Rab-40A-like gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:2291808 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:22581972 11703204 LOC100986445 ras-related protein Rab-40A-like gene DOID:9006257 Growth Disorders ISO RGD:2291808 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:22581972 11703204 LOC100986445 ras-related protein Rab-40A-like gene DOID:9008731 Craniofacial Abnormalities ISO RGD:2291808 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:22581972 11703234 FBXL18 F-box and leucine rich repeat protein 18 gene DOID:630 genetic disease ISO RGD:1352891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703234 FBXL18 F-box and leucine rich repeat protein 18 gene DOID:684 hepatocellular carcinoma ISO RGD:1352891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11703253 OSBPL2 oxysterol binding protein like 2 gene DOID:0110588 autosomal dominant nonsyndromic deafness 67 ISO RGD:1322700 D RGD:9068941 20220908 MouseDO OMIM:616340 11703281 GPR137C G protein-coupled receptor 137C gene DOID:630 genetic disease ISO RGD:1603253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:0060041 autism spectrum disorder ISO RGD:736217 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:0060043 sexual health disorder ISO RGD:736217 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:12378847|PMID:17541852 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:736217 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:1059 intellectual disability ISO RGD:736217 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Intellectual disability 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:1063 interstitial nephritis ISO RGD:736217 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:19814645 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:10652 Alzheimer's disease ISO RGD:736217 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:7574463 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:14330 Parkinson's disease ISO RGD:736217 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:14991823|PMID:15174030 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:1561 cognitive disorder ISO RGD:620640 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:20727252 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:2048 autoimmune hepatitis ISO RGD:736217 D RGD:9068941 20230427 RGD PMID:3186722|REF_RGD_ID:7207226 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:2048 autoimmune hepatitis ISO RGD:736217 D RGD:9068941 20230427 RGD protein:increased expression:serum: PMID:10435724|REF_RGD_ID:11353781 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:2841 asthma ISO RGD:736217 D RGD:9068941 20230427 RGD DNA:polymorphism: :1934G>A (human) PMID:19575027|REF_RGD_ID:5143944 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:3021 acute kidney failure ISO RGD:736217 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:19814645 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:303 substance-related disorder ISO RGD:736217 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:17089107 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:4483 rhinitis ISO RGD:736217 D RGD:9068941 20230427 RGD DNA:SNP:3' utr:*1934G>A (human) PMID:20088379|REF_RGD_ID:5143945 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:543 dystonia ISO RGD:736217 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:16702617 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:630 genetic disease ISO RGD:736217 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:670 amphetamine abuse ISO RGD:736217 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:18280655 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:679 basal ganglia disease ISO RGD:736217 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:16000684 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:736217 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:16835697 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:9000304 Manganese Poisoning ISO RGD:736217 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:12171760 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:9000495 Tremor ISO RGD:736217 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:15570195 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:736217 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:15570195 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:9001480 Muscle Rigidity ISO RGD:736217 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:15570195 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:620640 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:9002295 Poor Drug Metabolism, CYP2D6-Related ISO RGD:736217 D RGD:7240710 20230505 OMIM 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:9002295 Poor Drug Metabolism, CYP2D6-Related ISO RGD:736217 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Codeine, ultrarapid metabolism of | ClinVar Annotator: match by term: Debrisoquine, poor metabolism of PMID:10675100|PMID:12051754|PMID:15128046|PMID:15159443|PMID:15625333|PMID:1673290|PMID:16920476|PMID:17761971|PMID:1782973|PMID:1978251|PMID:1978565|PMID:19809024|PMID:21814747|PMID:2211621|PMID:22395643|PMID:22395644|PMID:23872831|PMID:24033728|PMID:24060820|PMID:24329190|PMID:24697814|PMID:25091503|PMID:27060675|PMID:27226358|PMID:27249031|PMID:27380339|PMID:27380342|PMID:27551126|PMID:27797974|PMID:27819145|PMID:27883289|PMID:27988492|PMID:28265459|PMID:28520357|PMID:28592184|PMID:28730340|PMID:28762370|PMID:28955222|PMID:29135105|PMID:29183390|PMID:29385237|PMID:29449008|PMID:29459457|PMID:29497277|PMID:29801584|PMID:30676859|PMID:31046213|PMID:7574463|PMID:7951238|PMID:8530011|PMID:8634695|PMID:9241659|PMID:9357098 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:9002304 Prostatic Neoplasms ISO RGD:736218 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:9004017 Chronic Hepatitis C ISO RGD:736217 D RGD:9068941 20230427 RGD protein:increased expression:serum: PMID:10435724|REF_RGD_ID:11353781 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:9004657 Weight Gain ISO RGD:736217 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:19997080 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:736217 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:9005463 Occupational Diseases ISO RGD:736217 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:16737584 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:9006462 Coma ISO RGD:736217 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:18359183 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736217 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:23609392 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:9007001 Bradycardia ISO RGD:736217 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:19284319 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736217 D RGD:9068941 20230427 RGD DNA:hypermethylation:promoter PMID:27490558|REF_RGD_ID:14700879 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:736217 D RGD:9068941 20230427 RGD PMID:12629505|REF_RGD_ID:1358549 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:9008939 Breast Neoplasms ISO RGD:736217 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:19597703 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:736217 D RGD:9068941 20230427 RGD DNA:polymorphisms: : PMID:11037802|REF_RGD_ID:11352820 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:9119 acute myeloid leukemia treatment ISO RGD:736217 D RGD:9068941 20230427 RGD DNA:SNP: :(rs16947)(human) PMID:21518482|REF_RGD_ID:11352828 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:9538 multiple myeloma no_association ISO RGD:736217 D RGD:9068941 20230427 RGD DNA:polymorphisms: : PMID:20684753|REF_RGD_ID:11352804 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:736217 D RGD:9068941 20230427 RGD DNA:SNP,deletion:splice junction,exon:1934G>A(human) PMID:19593802|REF_RGD_ID:11252111 11703292 LOC100988273 cytochrome P450 2D6-like gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:736217 D RGD:9068941 20230427 RGD DNA:polymorphisms: : PMID:11037802|REF_RGD_ID:11352820 11703293 ORC5 origin recognition complex subunit 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11703293 ORC5 origin recognition complex subunit 5 gene DOID:630 genetic disease ISO RGD:1320971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703314 TCEAL5 transcription elongation factor A like 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11703314 TCEAL5 transcription elongation factor A like 5 gene DOID:12849 autistic disorder ISO RGD:1354272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11703314 TCEAL5 transcription elongation factor A like 5 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1354272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:31690835 11703314 TCEAL5 transcription elongation factor A like 5 gene DOID:630 genetic disease ISO RGD:1354272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703324 OR7D4 olfactory receptor, family 7, subfamily D, member 4 gene DOID:12849 autistic disorder ISO RGD:1346280 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11703324 OR7D4 olfactory receptor, family 7, subfamily D, member 4 gene DOID:630 genetic disease ISO RGD:1346280 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703327 PEX6 peroxisomal biogenesis factor 6 gene DOID:0050444 infantile Refsum disease ISO RGD:734166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) PMID:11873320|PMID:15542397|PMID:16199547|PMID:16530715|PMID:17190851|PMID:17576681|PMID:19105186|PMID:19142205|PMID:19877282|PMID:21031596|PMID:22871920|PMID:23757202|PMID:24016303|PMID:24459294|PMID:25079577|PMID:25741868|PMID:26094004|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26669662|PMID:26943801|PMID:27302843|PMID:27779215|PMID:27848944|PMID:28492532|PMID:29220678|PMID:31831025|PMID:31980526|PMID:8670792|PMID:9536098 11703327 PEX6 peroxisomal biogenesis factor 6 gene DOID:0050444 infantile Refsum disease ISO RGD:734166 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B PMID:11873320|PMID:15542397|PMID:16199547|PMID:16530715|PMID:17190851|PMID:17576681|PMID:19105186|PMID:19142205|PMID:19877282|PMID:21031596|PMID:22871920|PMID:23757202|PMID:24016303|PMID:24459294|PMID:25079577|PMID:25741868|PMID:26094004|PMID:26387595|PMID:26467025|PMID:26669662|PMID:26943801|PMID:27302843|PMID:27604308|PMID:27779215|PMID:27848944|PMID:28492532|PMID:29220678|PMID:29676688|PMID:31216405|PMID:31831025|PMID:31980526|PMID:33003980|PMID:33776059|PMID:8670792|PMID:9536098 11703327 PEX6 peroxisomal biogenesis factor 6 gene DOID:0050444 infantile Refsum disease ISO RGD:734166 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) PMID:10408779|PMID:11355018|PMID:11873320|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16530715|PMID:17190851|PMID:17576681|PMID:19105186|PMID:19142205|PMID:19763152|PMID:19877282|PMID:20301621|PMID:20307669|PMID:21031596|PMID:21520333|PMID:22406018|PMID:22871920|PMID:22894767|PMID:23757202|PMID:24016303|PMID:24033266|PMID:24459294|PMID:25079577|PMID:25525159|PMID:25741868|PMID:26094004|PMID:26275793|PMID:26387595|PMID:26467025|PMID:26669662|PMID:26700162|PMID:26943801|PMID:27302843|PMID:27604308|PMID:27779215|PMID:27848944|PMID:28492532|PMID:28857144|PMID:29047053|PMID:29220678|PMID:29676688|PMID:31216405|PMID:31831025|PMID:31884617|PMID:31980526|PMID:32399598|PMID:33003980|PMID:33776059|PMID:8670792|PMID:8940266|PMID:9536098 11703327 PEX6 peroxisomal biogenesis factor 6 gene DOID:0050444 infantile Refsum disease ISO RGD:734166 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) PMID:10408779|PMID:11355018|PMID:11873320|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16530715|PMID:17041890|PMID:17190851|PMID:17576681|PMID:19105186|PMID:19142205|PMID:19763152|PMID:19877282|PMID:20301621|PMID:20307669|PMID:21031596|PMID:21520333|PMID:22406018|PMID:22871920|PMID:22894767|PMID:23757202|PMID:24016303|PMID:24033266|PMID:24459294|PMID:25079577|PMID:25079599|PMID:25525159|PMID:25741868|PMID:26094004|PMID:26275793|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26669662|PMID:26700162|PMID:26943801|PMID:27302843|PMID:27604308|PMID:27779215|PMID:27848944|PMID:28492532|PMID:28857144|PMID:29047053|PMID:29220678|PMID:29419819|PMID:29676688|PMID:31216405|PMID:31555682|PMID:31831025|PMID:31884617|PMID:31964843|PMID:31980526|PMID:32214787|PMID:32399598|PMID:33003980|PMID:33776059|PMID:34055681|PMID:3515938|PMID:8670792|PMID:8940266|PMID:9536098 11703327 PEX6 peroxisomal biogenesis factor 6 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:734166 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10408779|PMID:8940266 11703327 PEX6 peroxisomal biogenesis factor 6 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:734166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a PMID:10408779|PMID:19877282|PMID:25525159|PMID:25741868|PMID:26467025|PMID:28492532 11703327 PEX6 peroxisomal biogenesis factor 6 gene DOID:0080479 peroxisome biogenesis disorder 4A ISO RGD:734166 D RGD:7240710 20180130 OMIM 11703327 PEX6 peroxisomal biogenesis factor 6 gene DOID:0080479 peroxisome biogenesis disorder 4A ISO RGD:734166 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 4A (Zellweger) PMID:10408779|PMID:11004248|PMID:11355018|PMID:11873320|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16530715|PMID:17190851|PMID:17576681|PMID:19105186|PMID:19142205|PMID:19877282|PMID:20301621|PMID:21031596|PMID:22871920|PMID:22894767|PMID:23757202|PMID:24016303|PMID:24459294|PMID:25079577|PMID:25079599|PMID:25525159|PMID:25741868|PMID:26094004|PMID:26275793|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26593283|PMID:26669662|PMID:26700162|PMID:26943801|PMID:27302843|PMID:27604308|PMID:27779215|PMID:27848944|PMID:28492532|PMID:29220678|PMID:29419819|PMID:29676688|PMID:31216405|PMID:31831025|PMID:31884617|PMID:31980526|PMID:32399598|PMID:33003980|PMID:33776059|PMID:34055681|PMID:3515938|PMID:8670792|PMID:8940266|PMID:9536098 11703327 PEX6 peroxisomal biogenesis factor 6 gene DOID:0080623 Heimler syndrome 1 ISO RGD:734166 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11703327 PEX6 peroxisomal biogenesis factor 6 gene DOID:0080624 Heimler syndrome 2 ISO RGD:734166 D RGD:7240710 20180130 OMIM 11703327 PEX6 peroxisomal biogenesis factor 6 gene DOID:0080624 Heimler syndrome 2 ISO RGD:734166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heimler syndrome 2 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 4C PMID:11873320|PMID:15542397|PMID:16530715|PMID:19105186|PMID:19142205|PMID:19877282|PMID:21031596|PMID:22871920|PMID:23757202|PMID:24016303|PMID:24459294|PMID:25079577|PMID:25079599|PMID:25741868|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26593283|PMID:26669662|PMID:26943801|PMID:27302843|PMID:27604308|PMID:27779215|PMID:27848944|PMID:28492532|PMID:29220678|PMID:29676688|PMID:31216405|PMID:31831025|PMID:32399598|PMID:33003980|PMID:33776059|PMID:34055681|PMID:8670792 11703327 PEX6 peroxisomal biogenesis factor 6 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:734166 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 PMID:15542397|PMID:19105186|PMID:19877282|PMID:24016303|PMID:25741868|PMID:26387595|PMID:28492532|PMID:29220678 11703327 PEX6 peroxisomal biogenesis factor 6 gene DOID:10003 sensorineural hearing loss ISO RGD:734166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:19877282|PMID:25079577|PMID:25741868 11703327 PEX6 peroxisomal biogenesis factor 6 gene DOID:10579 leukodystrophy ISO RGD:734166 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:25741868 11703327 PEX6 peroxisomal biogenesis factor 6 gene DOID:1059 intellectual disability ISO RGD:734166 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11703327 PEX6 peroxisomal biogenesis factor 6 gene DOID:630 genetic disease ISO RGD:734166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15542397|PMID:19105186|PMID:19877282|PMID:21031596|PMID:24016303|PMID:24459294|PMID:25741868|PMID:26387595|PMID:28492532|PMID:29220678|PMID:34055681|PMID:8670792 11703327 PEX6 peroxisomal biogenesis factor 6 gene DOID:8501 fundus dystrophy ISO RGD:734166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16530715|PMID:19105186|PMID:19877282|PMID:21031596|PMID:25079577|PMID:25079599|PMID:25741868|PMID:26287655|PMID:26387595|PMID:26943801|PMID:27302843|PMID:27848944|PMID:28492532|PMID:29676688|PMID:31216405|PMID:31831025|PMID:33003980|PMID:33776059 11703327 PEX6 peroxisomal biogenesis factor 6 gene DOID:9002864 Peroxisome Biogenesis Disorder 4B ISO RGD:734166 D RGD:7240710 20180130 OMIM 11703327 PEX6 peroxisomal biogenesis factor 6 gene DOID:9002864 Peroxisome Biogenesis Disorder 4B ISO RGD:734166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 4B PMID:10408779|PMID:11355018|PMID:11873320|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16530715|PMID:17576681|PMID:19105186|PMID:19142205|PMID:19877282|PMID:20301621|PMID:21031596|PMID:21937992|PMID:22871920|PMID:22894767|PMID:23757202|PMID:24016303|PMID:24459294|PMID:25079577|PMID:25079599|PMID:25525159|PMID:25741868|PMID:26275793|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26669662|PMID:26700162|PMID:26943801|PMID:27302843|PMID:27604308|PMID:27779215|PMID:27848944|PMID:28492532|PMID:29220678|PMID:29676688|PMID:31216405|PMID:31831025|PMID:31884617|PMID:31980526|PMID:32399598|PMID:33003980|PMID:33776059|PMID:34055681|PMID:3515938|PMID:8670792|PMID:8940266|PMID:9536098 11703327 PEX6 peroxisomal biogenesis factor 6 gene DOID:9006420 Zellweger Leukodystrophy ISO RGD:734166 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:10408779|PMID:19877282|PMID:25525159|PMID:25741868|PMID:26467025|PMID:28492532 11703327 PEX6 peroxisomal biogenesis factor 6 gene DOID:905 Zellweger syndrome ISO RGD:734166 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10408779|PMID:11355018|PMID:11873320|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16530715|PMID:17041890|PMID:17190851|PMID:17576681|PMID:19105186|PMID:19142205|PMID:19763152|PMID:19877282|PMID:20301621|PMID:20307669|PMID:21031596|PMID:21520333|PMID:22406018|PMID:22871920|PMID:22894767|PMID:23757202|PMID:24016303|PMID:24033266|PMID:24459294|PMID:25079577|PMID:25079599|PMID:25525159|PMID:25741868|PMID:26094004|PMID:26275793|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26669662|PMID:26700162|PMID:26943801|PMID:27302843|PMID:27604308|PMID:27779215|PMID:27848944|PMID:28492532|PMID:28857144|PMID:29047053|PMID:29220678|PMID:29419819|PMID:29676688|PMID:31216405|PMID:31555682|PMID:31831025|PMID:31884617|PMID:31964843|PMID:31980526|PMID:32214787|PMID:32399598|PMID:33003980|PMID:33776059|PMID:34055681|PMID:3515938|PMID:8670792|PMID:8940266|PMID:9536098 11703327 PEX6 peroxisomal biogenesis factor 6 gene DOID:906 peroxisomal disease ISO RGD:621637 D RGD:9068941 20200609 RGD PMID:7493019|REF_RGD_ID:729462 11703349 CROCC ciliary rootlet coiled-coil, rootletin gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1313346 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11703349 CROCC ciliary rootlet coiled-coil, rootletin gene DOID:5426 primary ovarian insufficiency ISO RGD:1313346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 11703349 CROCC ciliary rootlet coiled-coil, rootletin gene DOID:630 genetic disease ISO RGD:1313346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11703408 CALD1 caldesmon 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:730856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11703408 CALD1 caldesmon 1 gene DOID:630 genetic disease ISO RGD:730856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703408 CALD1 caldesmon 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:730856 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11703408 CALD1 caldesmon 1 gene DOID:7148 rheumatoid arthritis ISO RGD:730856 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15292528 11703408 CALD1 caldesmon 1 gene DOID:9000955 Acute Otitis Media ISO RGD:8921357 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:mucosa of middle ear PMID:26711468|REF_RGD_ID:11553828 11703408 CALD1 caldesmon 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2256 D RGD:9068941 20200609 RGD PMID:10644879|REF_RGD_ID:2314036 11703497 ZCCHC8 zinc finger CCHC-type containing 8 gene DOID:1059 intellectual disability ISO RGD:1320291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11703497 ZCCHC8 zinc finger CCHC-type containing 8 gene DOID:630 genetic disease ISO RGD:1320291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11703497 ZCCHC8 zinc finger CCHC-type containing 8 gene DOID:9009112 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 5 ISO RGD:1320291 D RGD:7240710 20191211 OMIM 11703497 ZCCHC8 zinc finger CCHC-type containing 8 gene DOID:9009112 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 5 ISO RGD:1320291 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 PMID:25741868|PMID:28492532|PMID:31488579 11703515 FBXW4 F-box and WD repeat domain containing 4 gene DOID:0090020 split hand-foot malformation ISO RGD:1603710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation PMID:21681106 11703515 FBXW4 F-box and WD repeat domain containing 4 gene DOID:0090025 split hand-foot malformation 3 ISO RGD:1603710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 3 PMID:28492532 11703515 FBXW4 F-box and WD repeat domain containing 4 gene DOID:630 genetic disease ISO RGD:1603710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11703528 NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1322768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11703528 NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1322768 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11703528 NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1322768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11703528 NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 gene DOID:630 genetic disease ISO RGD:1322768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703528 NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1311354 D RGD:9068941 20200609 RGD associated with obesity PMID:20729114|REF_RGD_ID:13801195 11703528 NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1322768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11703528 NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 gene DOID:9870 galactosemia ISO RGD:1322768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11703528 NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 gene DOID:9970 obesity ISO RGD:1311354 D RGD:9068941 20200609 RGD mRNA:decreased expression:epididymal fat pad PMID:20559011|REF_RGD_ID:13822707 11703542 CYP8B1 cytochrome P450 family 8 subfamily B member 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:71016 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 11703542 CYP8B1 cytochrome P450 family 8 subfamily B member 1 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:736649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 11703542 CYP8B1 cytochrome P450 family 8 subfamily B member 1 gene DOID:10787 premature menopause ISO RGD:71016 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 11703542 CYP8B1 cytochrome P450 family 8 subfamily B member 1 gene DOID:13580 cholestasis ISO RGD:736649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22461449 11703542 CYP8B1 cytochrome P450 family 8 subfamily B member 1 gene DOID:13619 extrahepatic cholestasis treatment ISO RGD:71016 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:29360226|REF_RGD_ID:14995480 11703542 CYP8B1 cytochrome P450 family 8 subfamily B member 1 gene DOID:630 genetic disease ISO RGD:736649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703542 CYP8B1 cytochrome P450 family 8 subfamily B member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25448281 11703564 FASTKD2 FAST kinase domains 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:1317335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11703564 FASTKD2 FAST kinase domains 2 gene DOID:3652 Leigh disease ISO RGD:1317335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:31944455 11703564 FASTKD2 FAST kinase domains 2 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1317335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:18771761|PMID:25326635|PMID:25497598|PMID:25741868|PMID:25842391|PMID:28492532 11703564 FASTKD2 FAST kinase domains 2 gene DOID:630 genetic disease ISO RGD:1317335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11703564 FASTKD2 FAST kinase domains 2 gene DOID:9002715 Combined Oxidative Phosphorylation Deficiency 44 ISO RGD:1317335 D RGD:7240710 20200520 OMIM 11703564 FASTKD2 FAST kinase domains 2 gene DOID:9002715 Combined Oxidative Phosphorylation Deficiency 44 ISO RGD:1317335 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 44 PMID:18771761|PMID:25741868|PMID:28492532|PMID:28499982|PMID:31944455 11703564 FASTKD2 FAST kinase domains 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11703584 CKMT2 creatine kinase, mitochondrial 2 gene DOID:630 genetic disease ISO RGD:1343148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703584 CKMT2 creatine kinase, mitochondrial 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11703603 CEP128 centrosomal protein 128 gene DOID:0070126 congenital nongoitrous hypothyroidism 1 ISO RGD:1344060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 PMID:10037069|PMID:12050212|PMID:16060907|PMID:17062880|PMID:17705697|PMID:18727713|PMID:1955520|PMID:21186955|PMID:24728327|PMID:25741868|PMID:28492532|PMID:30372544|PMID:8964822|PMID:9385128 11703603 CEP128 centrosomal protein 128 gene DOID:0081101 nonautoimmune hyperthyroidism ISO RGD:1344060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperthyroidism, nonautoimmune PMID:10037069|PMID:12050212|PMID:16060907|PMID:17062880|PMID:17705697|PMID:18727713|PMID:1955520|PMID:21186955|PMID:24728327|PMID:25741868|PMID:28492532|PMID:30372544|PMID:8964822|PMID:9385128 11703603 CEP128 centrosomal protein 128 gene DOID:0081102 familial gestational hyperthyroidism ISO RGD:1344060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial gestational hyperthyroidism PMID:24728327|PMID:25741868 11703603 CEP128 centrosomal protein 128 gene DOID:1826 epilepsy ISO RGD:1344060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure disorder PMID:12050212|PMID:25741868|PMID:8964822 11703603 CEP128 centrosomal protein 128 gene DOID:630 genetic disease ISO RGD:1344060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16060907|PMID:17705697|PMID:18727713|PMID:21186955|PMID:28492532|PMID:30372544 11703603 CEP128 centrosomal protein 128 gene DOID:9000591 Congenital Nongoitrous Hypothyroidism ISO RGD:1344060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: TSH RESISTANCE PMID:10037069|PMID:12050212|PMID:16060907|PMID:17062880|PMID:17705697|PMID:18727713|PMID:1955520|PMID:21186955|PMID:24728327|PMID:25741868|PMID:28492532|PMID:30372544|PMID:8964822|PMID:9385128 11703603 CEP128 centrosomal protein 128 gene DOID:9008086 Developmental Disabilities ISO RGD:1344060 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:12050212|PMID:25741868|PMID:8964822 11703646 SLC1A6 solute carrier family 1 member 6 gene DOID:630 genetic disease ISO RGD:732902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703670 TMEM50A transmembrane protein 50A gene DOID:630 genetic disease ISO RGD:1606813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703671 EDA2R ectodysplasin A2 receptor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11703671 EDA2R ectodysplasin A2 receptor gene DOID:0111664 ectodermal dysplasia 1 ISO RGD:1344270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia PMID:22889853 11703671 EDA2R ectodysplasin A2 receptor gene DOID:12849 autistic disorder ISO RGD:1344270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11703671 EDA2R ectodysplasin A2 receptor gene DOID:630 genetic disease ISO RGD:1344270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703688 RGS17 regulator of G protein signaling 17 gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:1313587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:28492532 11703688 RGS17 regulator of G protein signaling 17 gene DOID:630 genetic disease ISO RGD:1313587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703688 RGS17 regulator of G protein signaling 17 gene DOID:670 amphetamine abuse ISO RGD:1313587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11703697 SNRPD1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1314912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 11703697 SNRPD1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:1059 intellectual disability ISO RGD:1314912 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11703697 SNRPD1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:10952 nephritis ISO RGD:1306345 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic in humans PMID:11771960|REF_RGD_ID:10755697 11703697 SNRPD1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:10952 nephritis ISO RGD:1314912 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic in humans PMID:11771960|REF_RGD_ID:10755697 11703697 SNRPD1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:10952 nephritis ISO RGD:1314913 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic in humans PMID:11771960|REF_RGD_ID:10755697 11703697 SNRPD1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:576 proteinuria ISO RGD:1306345 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic in a mouse model PMID:16418806|REF_RGD_ID:10755721 11703697 SNRPD1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:576 proteinuria ISO RGD:1314912 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic in a mouse model PMID:16418806|REF_RGD_ID:10755721 11703697 SNRPD1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:576 proteinuria ISO RGD:1314913 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic in a mouse model PMID:16418806|REF_RGD_ID:10755721 11703697 SNRPD1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:65 connective tissue disease ISO RGD:1314912 D RGD:9068941 20200609 RGD PMID:2477448|REF_RGD_ID:10755695 11703697 SNRPD1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1306345 D RGD:9068941 20200609 RGD mouse model PMID:12571858|REF_RGD_ID:10755713 11703697 SNRPD1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1314912 D RGD:9068941 20200609 RGD mouse model PMID:12571858|REF_RGD_ID:10755713 11703697 SNRPD1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1314913 D RGD:9068941 20200609 RGD mouse model PMID:12571858|REF_RGD_ID:10755713 11703697 SNRPD1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:9261 nasopharynx carcinoma ISO RGD:1314912 D RGD:9068941 20200609 RGD mRNA:increased expression:nasopharynx (human) PMID:24080422|REF_RGD_ID:10755709 11703705 LOC100977271 beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 7 gene DOID:630 genetic disease ISO RGD:1354424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703724 CCDC171 coiled-coil domain containing 171 gene DOID:10283 prostate cancer ISO RGD:1348779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11703724 CCDC171 coiled-coil domain containing 171 gene DOID:630 genetic disease ISO RGD:1348779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703760 SLIT1 slit guidance ligand 1 gene DOID:630 genetic disease ISO RGD:733848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703760 SLIT1 slit guidance ligand 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:736743 D RGD:9068941 20200609 RGD PMID:16262652|REF_RGD_ID:2316136 11703760 SLIT1 slit guidance ligand 1 gene DOID:9000998 Brain Injuries ISO RGD:69307 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:16262652|REF_RGD_ID:2316136 11703760 SLIT1 slit guidance ligand 1 gene DOID:9007330 Monomelic Amyotrophy ISO RGD:733848 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Monomelic amyotrophy 11703801 NVL nuclear VCP like gene DOID:1540 parathyroid carcinoma ISO RGD:1322636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11703801 NVL nuclear VCP like gene DOID:630 genetic disease ISO RGD:1322636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703801 NVL nuclear VCP like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11703828 CMTM6 CKLF like MARVEL transmembrane domain containing 6 gene DOID:630 genetic disease ISO RGD:1317145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703837 CDK15 cyclin dependent kinase 15 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1314644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11703837 CDK15 cyclin dependent kinase 15 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1314644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11703837 CDK15 cyclin dependent kinase 15 gene DOID:14557 primary pulmonary hypertension ISO RGD:1314644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:16429395|PMID:16429403|PMID:27453251|PMID:28492532|PMID:29743074 11703837 CDK15 cyclin dependent kinase 15 gene DOID:630 genetic disease ISO RGD:1314644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703837 CDK15 cyclin dependent kinase 15 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1314644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 11703837 CDK15 cyclin dependent kinase 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11703837 CDK15 cyclin dependent kinase 15 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1314644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11703868 LTK leukocyte receptor tyrosine kinase gene DOID:11612 polycystic ovary syndrome ISO RGD:1319608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11703868 LTK leukocyte receptor tyrosine kinase gene DOID:2717 Bloom syndrome ISO RGD:1319608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11703868 LTK leukocyte receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:1319608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703868 LTK leukocyte receptor tyrosine kinase gene DOID:9256 colorectal cancer ISO RGD:1319608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11703894 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1354498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11703894 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11703894 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:0080006 bone development disease ISO RGD:1354498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8955270 11703894 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1354498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11703894 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1354498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11703894 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:0112019 non-syndromic X-linked intellectual disability 19 ISO RGD:1354498 D RGD:7240710 20180130 OMIM 11703894 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:0112019 non-syndromic X-linked intellectual disability 19 ISO RGD:1354498 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 19 PMID:10319851|PMID:11180593|PMID:17100996|PMID:19377476|PMID:25741868|PMID:28492532 11703894 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:1059 intellectual disability ISO RGD:1354498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10094187|PMID:11180593|PMID:16879200|PMID:19377476|PMID:25741868|PMID:28492532 11703894 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:12849 autistic disorder ISO RGD:1354498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11703894 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1354498 D RGD:7240710 20180130 OMIM 11703894 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1354498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin syndrome | ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:10094187|PMID:10528858|PMID:11180593|PMID:11992250|PMID:12439904|PMID:12558110|PMID:14986828|PMID:15214012|PMID:16199547|PMID:16306095|PMID:16879200|PMID:17304053|PMID:17576681|PMID:17717706|PMID:18076117|PMID:18414213|PMID:19377476|PMID:19888300|PMID:25044551|PMID:25315662|PMID:25741868|PMID:26043507|PMID:26232052|PMID:28492532|PMID:29304373|PMID:30945684|PMID:31130284|PMID:31319225|PMID:32371413|PMID:5581017|PMID:8955270|PMID:9536098|PMID:9837815|PMID:9887375 11703894 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:630 genetic disease ISO RGD:1354498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10094187|PMID:11180593|PMID:11992250|PMID:16879200|PMID:18414213|PMID:19377476|PMID:22187936|PMID:25644381|PMID:25741868|PMID:26633542|PMID:28492532|PMID:8955270|PMID:9837815 11703894 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:684 hepatocellular carcinoma ISO RGD:1354498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561517 11703894 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1354498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21488662 11703894 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:9003133 Hypertelorism ISO RGD:1354498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 11703894 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11703894 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:9004507 Hirsutism ISO RGD:1354498 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirsutism PMID:25741868|PMID:28492532 11703894 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1354498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21488662 11703894 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:9008086 Developmental Disabilities ISO RGD:1354498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11703894 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:9008514 Psychomotor Disorders ISO RGD:1354498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8955270 11703936 SLC30A9 solute carrier family 30 member 9 gene DOID:630 genetic disease ISO RGD:1315097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703936 SLC30A9 solute carrier family 30 member 9 gene DOID:9007774 Birk-Landau-Perez Syndrome ISO RGD:1315097 D RGD:7240710 20190315 OMIM 11703936 SLC30A9 solute carrier family 30 member 9 gene DOID:9007774 Birk-Landau-Perez Syndrome ISO RGD:1315097 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Birk-Landau-Perez syndrome PMID:25741868|PMID:28334855|PMID:34716203 11703961 MLXIP MLX interacting protein gene DOID:630 genetic disease ISO RGD:1602332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703987 SPATA4 spermatogenesis associated 4 gene DOID:630 genetic disease ISO RGD:1348615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703987 SPATA4 spermatogenesis associated 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11703997 NUDT9 nudix hydrolase 9 gene DOID:630 genetic disease ISO RGD:1352650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11703997 NUDT9 nudix hydrolase 9 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1352650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 11704015 EMC10 ER membrane protein complex subunit 10 gene DOID:1059 intellectual disability ISO RGD:1602050 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:33531666|PMID:35684946 11704015 EMC10 ER membrane protein complex subunit 10 gene DOID:630 genetic disease ISO RGD:1602050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11704015 EMC10 ER membrane protein complex subunit 10 gene DOID:9007229 Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures ISO RGD:1602050 D RGD:7240710 20210414 OMIM 11704015 EMC10 ER membrane protein complex subunit 10 gene DOID:9007229 Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures ISO RGD:1602050 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and variable seizures PMID:25741868|PMID:32869858|PMID:33531666|PMID:35684946 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:0050827 rheumatic heart disease ISO RGD:2192 D RGD:9068941 20230202 RGD mRNA:increases expression:mitral valve, heart (rat) PMID:33179113|REF_RGD_ID:155882558 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12754746 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:2192 D RGD:9068941 20200609 RGD associated with gastric adenocarcinoma PMID:29588340|REF_RGD_ID:13792594 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:0060108 brain glioma treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:27255231|PMID:29324390|REF_RGD_ID:13792502|REF_RGD_ID:13792598 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:10283 prostate cancer ISO RGD:70373 D RGD:9068941 20200609 RGD PMID:17575222|PMID:18444130|REF_RGD_ID:1643354|REF_RGD_ID:2292907 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:10286 prostate carcinoma disease_progression ISO RGD:70373 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland epithelium PMID:17454944|REF_RGD_ID:1643355 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:10534 stomach cancer treatment ISO RGD:70373 D RGD:9068941 20210611 RGD human cells in mouse model PMID:29408335|REF_RGD_ID:127284846 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:10652 Alzheimer's disease ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:16265626|PMID:17639989|REF_RGD_ID:10054047|REF_RGD_ID:2293073 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:10652 Alzheimer's disease ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18077176 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:10652 Alzheimer's disease ISO RGD:70373 D RGD:9068941 20200609 RGD PMID:8990132|REF_RGD_ID:10054039 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:10652 Alzheimer's disease treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:21585051|PMID:29587274|PMID:29777699|REF_RGD_ID:10054049|REF_RGD_ID:13782186|REF_RGD_ID:13782188 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:10763 hypertension treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:20065158|REF_RGD_ID:10053702 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:11054 urinary bladder cancer ISO RGD:70373 D RGD:9068941 20200609 RGD PMID:18452128|REF_RGD_ID:2296023 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:114 heart disease ISO RGD:2192 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19820199|REF_RGD_ID:2314021 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:11476 osteoporosis treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:22648569|REF_RGD_ID:10054093 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:11612 polycystic ovary syndrome ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21062263 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:11650 bronchopulmonary dysplasia ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:26431790|REF_RGD_ID:11537057 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:12336 male infertility ISO RGD:10226 D RGD:9068941 20200609 RGD PMID:7569956|REF_RGD_ID:734632 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:12336 male infertility ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24723216 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:127 leiomyoma treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:23789224|REF_RGD_ID:10054112 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:12704 ataxia telangiectasia susceptibility ISO RGD:70373 D RGD:9068941 20200609 RGD DNA:mutations:introns:IVS1146C>T, IVS3+14A>G(human) PMID:19898928|REF_RGD_ID:14394817 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:12858 Huntington's disease ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:11299004|REF_RGD_ID:10054041 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:12858 Huntington's disease treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:18938217|REF_RGD_ID:10054048 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:12930 dilated cardiomyopathy ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:26004897|REF_RGD_ID:13782348 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:12930 dilated cardiomyopathy treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:23980359|REF_RGD_ID:10054117 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:1307 dementia treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:21473886|REF_RGD_ID:10054040 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:14221 abdominal obesity-metabolic syndrome 1 treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:27131981|REF_RGD_ID:13792503 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:1520 colon carcinoma ISO RGD:70373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:10984511|PMID:9020077|PMID:9453486|PMID:9531611 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:1596 depressive disorder treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:21308783|REF_RGD_ID:10054142 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:1612 breast cancer disease_progression ISO RGD:70373 D RGD:9068941 20200609 RGD PMID:17626754|REF_RGD_ID:1643353 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:1686 glaucoma ISO RGD:2192 D RGD:9068941 20200609 RGD mRNA:increased expression:optic nerve, retina PMID:24357921|REF_RGD_ID:10054098 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:1824 status epilepticus treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:22849356|REF_RGD_ID:10054246 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:1875 impotence treatment ISO RGD:2192 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21235725|REF_RGD_ID:10053666 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:2055 post-traumatic stress disorder ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:23381833|REF_RGD_ID:10054113 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:224 transient cerebral ischemia treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:21167243|REF_RGD_ID:10054102 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:234 colon adenocarcinoma susceptibility ISO RGD:70373 D RGD:9068941 20200609 RGD DNA:frameshift mutation: ; PMID:9020077|REF_RGD_ID:734633 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:2560 morphine dependence treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:24906198|REF_RGD_ID:10054248 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:289 endometriosis treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:23406865|REF_RGD_ID:7257718 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:3021 acute kidney failure ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:3021 acute kidney failure treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:20037173|REF_RGD_ID:10053672 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:326 ischemia ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15172883 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:3307 teratoma disease_progression ISO RGD:70373 D RGD:9068941 20200609 RGD PMID:17390059|REF_RGD_ID:2296025 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:10226 D RGD:9068941 20200609 RGD PMID:10582606|REF_RGD_ID:13506907 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:10226 D RGD:9068941 20200609 RGD PMID:20195368|PMID:21193837|REF_RGD_ID:13506800|REF_RGD_ID:13506805 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:10226 D RGD:9068941 20200609 RGD PMID:20890041|PMID:24699224|REF_RGD_ID:13506797|REF_RGD_ID:13506803 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:23143152|REF_RGD_ID:10054501 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:3669 intermittent claudication ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:23658678|REF_RGD_ID:9586024 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:3744 cervical squamous cell carcinoma ISO RGD:70373 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17694953|REF_RGD_ID:1643352 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:70373 D RGD:9068941 20210903 RGD human cells in mouse model PMID:23632475|REF_RGD_ID:150404268 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:4448 macular degeneration ISO RGD:70373 D RGD:9068941 20200609 RGD PMID:20054800|REF_RGD_ID:10043353 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:4467 clear cell renal cell carcinoma ISO RGD:70373 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:28551630|REF_RGD_ID:15036804 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:2192 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:12234300|REF_RGD_ID:1579984 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:5295 intestinal disease treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:24228095|REF_RGD_ID:10058972 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:5434 scrapie ISO RGD:10226 D RGD:9068941 20200609 RGD PMID:27921253|REF_RGD_ID:13782156 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:70373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: T-cell acute lymphoblastic leukemia PMID:9531611 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:5844 myocardial infarction ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20079142|PMID:25450231 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:6000 congestive heart failure treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:18097624|PMID:29746994|REF_RGD_ID:10054097|REF_RGD_ID:13792577 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:630 genetic disease ISO RGD:70373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10984511|PMID:9020077|PMID:9453486|PMID:9531611 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:649 prion disease ISO RGD:10226 D RGD:9068941 20200609 RGD PMID:15618403|REF_RGD_ID:13782157 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2192 D RGD:9068941 20220714 RGD PMID:33841550|REF_RGD_ID:152998960 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:7166 thyroiditis ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:20968180|REF_RGD_ID:10054115 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:8398 osteoarthritis ISO RGD:70373 D RGD:9068941 20200609 RGD PMID:19217321|REF_RGD_ID:10053643 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:8398 osteoarthritis ISO RGD:70373 D RGD:9068941 20200609 RGD protein:increased expression:chondrocyte PMID:16864079|REF_RGD_ID:10054095 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:8466 retinal degeneration ISO RGD:2192 D RGD:9068941 20200609 RGD protein:increased expression:retina (rat) PMID:24166353|REF_RGD_ID:11522757 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9000027 Microsatellite Instability ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:27256506|REF_RGD_ID:13792677 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9000117 Esophageal Neoplasms ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17634542 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9000288 Chronic Intermittent Hypoxia treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:26769958|REF_RGD_ID:13792505 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9000965 Neoplasm Metastasis ISO RGD:70373 D RGD:9068941 20200609 RGD associated with Carcinoma, Infiltrating Duct PMID:17288732|REF_RGD_ID:1643356 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9000998 Brain Injuries treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:20888848|REF_RGD_ID:10054247 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9001390 Testis Reperfusion Injury ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:26754107|REF_RGD_ID:11555349 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:23056591|REF_RGD_ID:10053711 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2192 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:22647552|REF_RGD_ID:10053673 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:21092002|REF_RGD_ID:5134995 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2192 D RGD:9068941 20200609 RGD associated with Non-alcoholic Fatty Liver Disease PMID:22847887|REF_RGD_ID:10053710 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9002221 Hyperplasia ISO RGD:10226 D RGD:9068941 20200609 RGD PMID:7569956|REF_RGD_ID:734632 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:22932950|REF_RGD_ID:10054114 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9002245 Intestinal Neoplasms ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12663524 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9002304 Prostatic Neoplasms ISO RGD:10226 D RGD:9068941 20200609 RGD PMID:18317887|REF_RGD_ID:2291908 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9002304 Prostatic Neoplasms ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17542986 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9002331 Knee Osteoarthritis treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:20131282|REF_RGD_ID:6907382 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9002457 Experimental Arthritis ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:21199477|REF_RGD_ID:10054249 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:22978269|REF_RGD_ID:10054498 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9002644 Premature Aging treatment ISO RGD:10226 D RGD:9068941 20200609 RGD PMID:21359432|REF_RGD_ID:6480478 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9002676 Cerebral Hemorrhage ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12721362 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9002928 Colonic Neoplasms ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17404573 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9002955 Nerve Degeneration ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20385067 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:2192 D RGD:9068941 20230128 RGD PMID:21189961|PMID:24089674|PMID:29635023|REF_RGD_ID:10054502|REF_RGD_ID:13782292|REF_RGD_ID:155882465 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9004009 Reperfusion Injury ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:18221257|REF_RGD_ID:2293026 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9004009 Reperfusion Injury ISO RGD:2192 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:18083315|REF_RGD_ID:2290557 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9004038 Kashin-Beck Disease ISO RGD:70373 D RGD:9068941 20200609 RGD protein:increased expression:articular cartilage, chondrocyte PMID:16511931|REF_RGD_ID:10054094 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9004610 Acute Lung Injury ISO RGD:2192 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:20663300|REF_RGD_ID:10054109 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9005181 Multi-Infarct Dementia treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:18938189|REF_RGD_ID:10054050 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9005233 Experimental Mammary Neoplasms severity ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:20732338|REF_RGD_ID:10053708 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:23404339|REF_RGD_ID:10053670 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2192 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:18991018|REF_RGD_ID:2311240 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23090186 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:23267840|REF_RGD_ID:10054099 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9005930 Endotoxemia ISO RGD:2192 D RGD:9068941 20200609 RGD mRNA:increased expression:diaphragm PMID:23940949|REF_RGD_ID:10054120 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:23151253|REF_RGD_ID:10054101 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9006827 Lung Reperfusion Injury ameliorates ISO RGD:10226 D RGD:9068941 20220915 RGD PMID:34238924|REF_RGD_ID:153350155 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:23953793|REF_RGD_ID:10054119 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:10226 D RGD:9068941 20230302 RGD PMID:36044268|REF_RGD_ID:156430337 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:22014268|REF_RGD_ID:10054500 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:10226 D RGD:9068941 20230406 RGD associated with myocardial infarction PMID:25726944|REF_RGD_ID:11252030 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17906064 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9007730 Burns treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:22153006|REF_RGD_ID:10054126 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20026869 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2192 D RGD:9068941 20220923 RGD PMID:21223820|PMID:25547710|PMID:31583047|REF_RGD_ID:10054103|REF_RGD_ID:13782178|REF_RGD_ID:155230831 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9008091 Optic Nerve Injuries ISO RGD:2192 D RGD:9068941 20200609 RGD mRNA:increased expression:optic nerve, retina PMID:24357921|REF_RGD_ID:10054098 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9008443 Colorectal Neoplasms ISO RGD:70373 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9008622 Adrenal Insufficiency ISO RGD:2192 D RGD:9068941 20200609 RGD associated with Pancreatitis, Acute Necrotizing;protein:increased expression:adrenal cortex PMID:21161352|REF_RGD_ID:6482719 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9008824 Sarcopenia ISO RGD:2192 D RGD:9068941 20200609 RGD mRNA:decreased expression:plantaris PMID:17029665|REF_RGD_ID:2325745 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9008939 Breast Neoplasms ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22572619 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9008975 Gastrointestinal Hemorrhage treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:24058648|REF_RGD_ID:10058975 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9256 colorectal cancer ISO RGD:70373 D RGD:7240710 20200226 OMIM 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31626838 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:22543177|REF_RGD_ID:10054139 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:2192 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9952 acute lymphoblastic leukemia ISO RGD:70373 D RGD:7240710 20230505 OMIM 11704027 BAX BCL2 associated X, apoptosis regulator gene DOID:9965 toxoplasmosis ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:24812878|REF_RGD_ID:10054127 11704048 SPR sepiapterin reductase gene DOID:0050473 Alstrom syndrome ISO RGD:1346391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 11704048 SPR sepiapterin reductase gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1346391 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11704048 SPR sepiapterin reductase gene DOID:0080600 COVID-19 ISO RGD:1346391 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11704048 SPR sepiapterin reductase gene DOID:0090043 dystonia 5 ISO RGD:1346391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dopa-responsive dystonia 11704048 SPR sepiapterin reductase gene DOID:0111168 sepiapterin reductase deficiency ISO RGD:1346391 D RGD:7240710 20180130 OMIM 11704048 SPR sepiapterin reductase gene DOID:0111168 sepiapterin reductase deficiency ISO RGD:1346391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dopa-responsive dystonia due to sepiapterin reductase deficiency PMID:10384371|PMID:11443547|PMID:15241655|PMID:16049044|PMID:16650784|PMID:16752391|PMID:16917893|PMID:17159114|PMID:18414213|PMID:18502672|PMID:19130291|PMID:19491146|PMID:21431957|PMID:21677200|PMID:22291068|PMID:22522443|PMID:23430877|PMID:24212389|PMID:25741868|PMID:25763508|PMID:28492532|PMID:29116116|PMID:29147684|PMID:31041399|PMID:33098801|PMID:33822819|PMID:9700606 11704048 SPR sepiapterin reductase gene DOID:1059 intellectual disability ISO RGD:1346391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:32581362 11704048 SPR sepiapterin reductase gene DOID:14330 Parkinson's disease ISO RGD:736908 D RGD:9068941 20220825 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 11704048 SPR sepiapterin reductase gene DOID:543 dystonia ISO RGD:1346391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder PMID:11443547|PMID:16697227|PMID:16752391|PMID:16917893|PMID:17159114|PMID:17576681|PMID:18502672|PMID:19130291|PMID:19491146|PMID:21431957|PMID:21677200|PMID:22522443|PMID:23430877|PMID:23542699|PMID:23640889|PMID:24212389|PMID:24588500|PMID:25741868|PMID:25763508|PMID:28492532|PMID:29116116|PMID:29147684|PMID:30682498|PMID:32581362|PMID:33098801|PMID:33822819|PMID:9536098 11704048 SPR sepiapterin reductase gene DOID:543 dystonia susceptibility ISO RGD:1346391 D RGD:9068941 20200609 RGD DNA:deletion, transitions PMID:11443547|REF_RGD_ID:1600054 11704048 SPR sepiapterin reductase gene DOID:630 genetic disease ISO RGD:1346391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22522443|PMID:25741868|PMID:28492532 11704048 SPR sepiapterin reductase gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1346391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11704055 SEPTIN12 septin 12 gene DOID:0070178 spermatogenic failure 10 ISO RGD:1604543 D RGD:7240710 20180130 OMIM 11704055 SEPTIN12 septin 12 gene DOID:0070178 spermatogenic failure 10 ISO RGD:1604543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 10 PMID:22275165|PMID:22479503 11704055 SEPTIN12 septin 12 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11704055 SEPTIN12 septin 12 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1604543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 11704055 SEPTIN12 septin 12 gene DOID:1826 epilepsy ISO RGD:1604543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11704055 SEPTIN12 septin 12 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604543 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11704055 SEPTIN12 septin 12 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1604543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 11704055 SEPTIN12 septin 12 gene DOID:630 genetic disease ISO RGD:1604543 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11704069 ZNF565 zinc finger protein 565 gene DOID:5419 schizophrenia ISO RGD:1344264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 11704069 ZNF565 zinc finger protein 565 gene DOID:630 genetic disease ISO RGD:1344264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11704081 GAS2L1 growth arrest specific 2 like 1 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1322543 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 11704081 GAS2L1 growth arrest specific 2 like 1 gene DOID:630 genetic disease ISO RGD:1322543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11704081 GAS2L1 growth arrest specific 2 like 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1322543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 11704081 GAS2L1 growth arrest specific 2 like 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1322543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11704093 C4H4orf19 chromosome 4 C4orf19 homolog gene DOID:13580 cholestasis ISO RGD:1602474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 11704100 AAR2 AAR2 splicing factor gene DOID:630 genetic disease ISO RGD:1322325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11704100 AAR2 AAR2 splicing factor gene DOID:9008086 Developmental Disabilities ISO RGD:1322325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11704112 YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma gene DOID:0080282 developmental and epileptic encephalopathy 56 ISO RGD:736065 D RGD:7240710 20190315 OMIM 11704112 YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma gene DOID:0080282 developmental and epileptic encephalopathy 56 ISO RGD:736065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 56 PMID:23934111|PMID:25741868|PMID:28492532|PMID:28777935|PMID:31926053|PMID:33590706|PMID:33619735|PMID:33767733|PMID:34294877|PMID:34413451|PMID:36243722 11704112 YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma gene DOID:0080600 COVID-19 ISO RGD:736065 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11704112 YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:736065 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:27929120|PMID:30309804|PMID:31541342|REF_RGD_ID:127284880|REF_RGD_ID:127284881|REF_RGD_ID:127284887 11704112 YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma gene DOID:1826 epilepsy ISO RGD:736065 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:31926053 11704112 YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11704112 YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma gene DOID:630 genetic disease ISO RGD:736065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31926053|PMID:33590706|PMID:34294877|PMID:34413451|PMID:36243722 11704112 YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma gene DOID:8927 learning disability ISO RGD:736065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Specific learning disability 11704112 YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma gene DOID:9000794 Sporadic Creutzfeldt-Jakob Disease ISO RGD:736065 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:27929120|REF_RGD_ID:127284887 11704112 YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11704112 YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:736065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 11704163 PDK1 pyruvate dehydrogenase kinase 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:69480 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11704163 PDK1 pyruvate dehydrogenase kinase 1 gene DOID:630 genetic disease ISO RGD:69480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11704197 FNDC4 fibronectin type III domain containing 4 gene DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly ISO RGD:1345842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly PMID:28492532 11704197 FNDC4 fibronectin type III domain containing 4 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1345842 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11704197 FNDC4 fibronectin type III domain containing 4 gene DOID:630 genetic disease ISO RGD:1345842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11704197 FNDC4 fibronectin type III domain containing 4 gene DOID:9455 lipid storage disease ISO RGD:1345842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414|PMID:17175557 11704213 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0050563 nonsyndromic deafness ISO RGD:1603834 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:25589040|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29703829|PMID:30514912|PMID:33111345 11704213 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1603834 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 11704213 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0110573 autosomal dominant nonsyndromic deafness 4A ISO RGD:1621965 D RGD:9068941 20220825 MouseDO OMIM:600652 11704213 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0110574 autosomal dominant nonsyndromic deafness 4B ISO RGD:1603834 D RGD:7240710 20180130 OMIM 11704213 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0110574 autosomal dominant nonsyndromic deafness 4B ISO RGD:1603834 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 4b PMID:21368133|PMID:24033266|PMID:25589040|PMID:25741868|PMID:28492532|PMID:30311386|PMID:35802133|PMID:36633841|PMID:7655461 11704213 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0111636 autosomal recessive nonsyndromic deafness 113 ISO RGD:1603834 D RGD:7240710 20190515 OMIM 11704213 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0111636 autosomal recessive nonsyndromic deafness 113 ISO RGD:1603834 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 113 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29703829|PMID:30311386|PMID:33111345 11704213 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:630 genetic disease ISO RGD:1603834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 11704213 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:9004538 Hearing Loss ISO RGD:1603834 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:25741868|PMID:30311386 11704234 PCNX2 pecanex 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1605048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11704234 PCNX2 pecanex 2 gene DOID:630 genetic disease ISO RGD:1605048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11704234 PCNX2 pecanex 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11704279 LOC100970830 MBL associated serine protease 1 gene DOID:0060575 3MC syndrome 1 ISO RGD:733853 D RGD:7240710 20180130 OMIM 11704279 LOC100970830 MBL associated serine protease 1 gene DOID:0060575 3MC syndrome 1 ISO RGD:733853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:17937425|PMID:18266249|PMID:21035106|PMID:21258343|PMID:22966085|PMID:25741868|PMID:28492532|PMID:28534045|PMID:28794230|PMID:29407414|PMID:30601195|PMID:33144682 11704279 LOC100970830 MBL associated serine protease 1 gene DOID:0060576 3MC syndrome 2 ISO RGD:733853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 11704279 LOC100970830 MBL associated serine protease 1 gene DOID:0060577 3MC syndrome 3 ISO RGD:733853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 11704279 LOC100970830 MBL associated serine protease 1 gene DOID:10123 pigmentation disease ISO RGD:733853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 11704279 LOC100970830 MBL associated serine protease 1 gene DOID:10907 microcephaly ISO RGD:733853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11704279 LOC100970830 MBL associated serine protease 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:733853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11704279 LOC100970830 MBL associated serine protease 1 gene DOID:5419 schizophrenia ISO RGD:733853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11704279 LOC100970830 MBL associated serine protease 1 gene DOID:630 genetic disease ISO RGD:733853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29168297|PMID:33144682 11704279 LOC100970830 MBL associated serine protease 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 11704307 REEP1 receptor accessory protein 1 gene DOID:0060224 atrial fibrillation ISO RGD:1313134 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 11704307 REEP1 receptor accessory protein 1 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1313134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant 11704307 REEP1 receptor accessory protein 1 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1313134 D RGD:7240710 20180130 OMIM 11704307 REEP1 receptor accessory protein 1 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1313134 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:16199547|PMID:16826527|PMID:17576681|PMID:18321925|PMID:18644145|PMID:19034539|PMID:19072839|PMID:20718791|PMID:21618648|PMID:22062632|PMID:22703882|PMID:23108492|PMID:23400676|PMID:23812641|PMID:24098485|PMID:24451228|PMID:24478229|PMID:24604904|PMID:24986827|PMID:25025039|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26201691|PMID:26374131|PMID:26467025|PMID:26671083|PMID:27066569|PMID:27260292|PMID:28362824|PMID:28492532|PMID:29124833|PMID:29629531|PMID:30373780|PMID:30564185|PMID:30637453|PMID:31872057|PMID:32581362|PMID:9536098 11704307 REEP1 receptor accessory protein 1 gene DOID:0111203 distal hereditary motor neuronopathy type 5 ISO RGD:1313134 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11704307 REEP1 receptor accessory protein 1 gene DOID:0111205 distal hereditary motor neuronopathy type 5B ISO RGD:1313134 D RGD:7240710 20180130 OMIM 11704307 REEP1 receptor accessory protein 1 gene DOID:0111205 distal hereditary motor neuronopathy type 5B ISO RGD:1313134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5B PMID:16826527|PMID:18321925|PMID:18644145|PMID:19034539|PMID:20718791|PMID:22703882|PMID:24478229|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34193129 11704307 REEP1 receptor accessory protein 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1313134 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:22703882|PMID:24604904|PMID:25025039|PMID:25741868|PMID:28492532 11704307 REEP1 receptor accessory protein 1 gene DOID:1389 polyneuropathy ISO RGD:1313134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:25741868 11704307 REEP1 receptor accessory protein 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1313134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:16199547|PMID:16826527|PMID:18321925|PMID:18644145|PMID:19034539|PMID:19072839|PMID:20718791|PMID:22703882|PMID:23400676|PMID:23812641|PMID:24478229|PMID:25525159|PMID:25741868|PMID:26201691|PMID:26467025|PMID:28492532|PMID:28832565|PMID:29629531|PMID:30637453|PMID:32581362 11704307 REEP1 receptor accessory protein 1 gene DOID:607 paraplegia ISO RGD:1313134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:16826527|PMID:18321925|PMID:18644145|PMID:20718791|PMID:22703882|PMID:23812641|PMID:24478229|PMID:25525159|PMID:25741868|PMID:26201691|PMID:26467025|PMID:27066569|PMID:28492532|PMID:29124833|PMID:30564185|PMID:31872057|PMID:32581362 11704307 REEP1 receptor accessory protein 1 gene DOID:630 genetic disease ISO RGD:1313134 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16826527|PMID:18321925|PMID:24051375|PMID:25741868|PMID:26392352|PMID:26467025|PMID:28362824|PMID:28492532|PMID:30373780 11704307 REEP1 receptor accessory protein 1 gene DOID:9003231 Distal Spinal Muscular Atrophy Type 6 ISO RGD:1313134 D RGD:7240710 20220921 OMIM 11704307 REEP1 receptor accessory protein 1 gene DOID:9003231 Distal Spinal Muscular Atrophy Type 6 ISO RGD:1313134 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 6 PMID:21618648|PMID:25741868|PMID:31872057|PMID:34193129 11704307 REEP1 receptor accessory protein 1 gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1313134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 11704307 REEP1 receptor accessory protein 1 gene DOID:9007428 Muscle Spasticity ISO RGD:1313134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spasticity PMID:25025039 11704319 SEMA3B semaphorin 3B gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1320778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 11704319 SEMA3B semaphorin 3B gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1320778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 11704319 SEMA3B semaphorin 3B gene DOID:630 genetic disease ISO RGD:1320778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11704319 SEMA3B semaphorin 3B gene DOID:769 neuroblastoma ISO RGD:1320778 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17452250 11704319 SEMA3B semaphorin 3B gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1320778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11704319 SEMA3B semaphorin 3B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11704319 SEMA3B semaphorin 3B gene DOID:9007715 Endometrial Neoplasms ISO RGD:1320778 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21933904 11704319 SEMA3B semaphorin 3B gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11704351 DDB1 damage specific DNA binding protein 1 gene DOID:0050888 syndromic intellectual disability ISO RGD:734016 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:33743206 11704351 DDB1 damage specific DNA binding protein 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:734016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11704351 DDB1 damage specific DNA binding protein 1 gene DOID:1059 intellectual disability ISO RGD:734016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11704351 DDB1 damage specific DNA binding protein 1 gene DOID:14764 Larsen syndrome ISO RGD:734016 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Larsen syndrome PMID:25741868 11704351 DDB1 damage specific DNA binding protein 1 gene DOID:1682 congenital heart disease ISO RGD:734016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 11704351 DDB1 damage specific DNA binding protein 1 gene DOID:630 genetic disease ISO RGD:734016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:33743206 11704351 DDB1 damage specific DNA binding protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:734016 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11704351 DDB1 damage specific DNA binding protein 1 gene DOID:9000918 Disease Progression ISO RGD:734016 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11704351 DDB1 damage specific DNA binding protein 1 gene DOID:9004434 WHITE-KERNOHAN SYNDROME ISO RGD:734016 D RGD:7240710 20210901 OMIM 11704351 DDB1 damage specific DNA binding protein 1 gene DOID:9004434 WHITE-KERNOHAN SYNDROME ISO RGD:734016 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: White-Kernohan syndrome PMID:25741868|PMID:33743206 11704351 DDB1 damage specific DNA binding protein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734016 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11704382 EGFR epidermal growth factor receptor gene DOID:0050424 familial adenomatous polyposis ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25200834 11704382 EGFR epidermal growth factor receptor gene DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome ISO RGD:69152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 11704382 EGFR epidermal growth factor receptor gene DOID:0050865 tongue squamous cell carcinoma treatment ISO RGD:10511 D RGD:9068941 20200609 RGD PMID:19380367|REF_RGD_ID:8551769 11704382 EGFR epidermal growth factor receptor gene DOID:0050866 oral squamous cell carcinoma ISO RGD:69152 D RGD:9068941 20210423 RGD PMID:11673832|REF_RGD_ID:126781761 11704382 EGFR epidermal growth factor receptor gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:69152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 11704382 EGFR epidermal growth factor receptor gene DOID:0080599 Coronavirus infectious disease ISO RGD:10511 D RGD:9068941 20220825 MouseDO 11704382 EGFR epidermal growth factor receptor gene DOID:0080855 Parkinsonism ISO RGD:2543 D RGD:9068941 20200609 RGD protein:decreased expression:striatum PMID:15857400|REF_RGD_ID:2289955 11704382 EGFR epidermal growth factor receptor gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9486961 11704382 EGFR epidermal growth factor receptor gene DOID:10283 prostate cancer ISO RGD:69152 D RGD:9068941 20200609 RGD PMID:18467313|REF_RGD_ID:2293731 11704382 EGFR epidermal growth factor receptor gene DOID:10534 stomach cancer treatment ISO RGD:10511 D RGD:9068941 20200917 RGD associated with Helicobacter Infections PMID:28473630|REF_RGD_ID:38599214 11704382 EGFR epidermal growth factor receptor gene DOID:10652 Alzheimer's disease treatment ISO RGD:10511 D RGD:9068941 20200609 RGD PMID:23019586|REF_RGD_ID:10059684 11704382 EGFR epidermal growth factor receptor gene DOID:10763 hypertension ISO RGD:2543 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:renal cortex PMID:15827348|REF_RGD_ID:1580953 11704382 EGFR epidermal growth factor receptor gene DOID:11054 urinary bladder cancer ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11723127|PMID:23523951 11704382 EGFR epidermal growth factor receptor gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:69152 D RGD:9068941 20200609 RGD PMID:16685269|REF_RGD_ID:2298502 11704382 EGFR epidermal growth factor receptor gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:18006009|REF_RGD_ID:2289943 11704382 EGFR epidermal growth factor receptor gene DOID:1107 esophageal carcinoma ISO RGD:69152 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus PMID:15623594|PMID:16205628|PMID:16707764|PMID:16863509|PMID:17653080|PMID:19147750|PMID:19536777|PMID:20522446|PMID:22753918|PMID:23102728|PMID:24033266|PMID:25157968|PMID:25521405|PMID:26051236|PMID:29141884 11704382 EGFR epidermal growth factor receptor gene DOID:11166 papillomavirus infectious disease disease_progression ISO RGD:69152 D RGD:9068941 20200911 RGD associated with squamous cell carcinoma PMID:31430224|REF_RGD_ID:38599177 11704382 EGFR epidermal growth factor receptor gene DOID:11934 head and neck cancer ISO RGD:69152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Head and neck neoplasm PMID:18089823|PMID:18355544|PMID:21172876|PMID:21274259|PMID:23380224|PMID:23578570|PMID:24934779|PMID:25057940|PMID:25157968|PMID:25176975|PMID:28492532|PMID:34012789 11704382 EGFR epidermal growth factor receptor gene DOID:127 leiomyoma ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31468104 11704382 EGFR epidermal growth factor receptor gene DOID:12849 autistic disorder ISO RGD:69152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11704382 EGFR epidermal growth factor receptor gene DOID:12858 Huntington's disease ISO RGD:10511 D RGD:9068941 20200609 RGD PMID:12890790|REF_RGD_ID:10047165 11704382 EGFR epidermal growth factor receptor gene DOID:12930 dilated cardiomyopathy ISO RGD:2543 D RGD:9068941 20200609 RGD PMID:22646904|REF_RGD_ID:7204501 11704382 EGFR epidermal growth factor receptor gene DOID:12930 dilated cardiomyopathy ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18599591 11704382 EGFR epidermal growth factor receptor gene DOID:1307 dementia ISO RGD:69152 D RGD:9068941 20200609 RGD PMID:2354367|REF_RGD_ID:10059682 11704382 EGFR epidermal growth factor receptor gene DOID:1324 lung cancer ISO RGD:69152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15728811|PMID:15737014|PMID:15897572|PMID:15901872|PMID:16115929|PMID:16187797|PMID:16203769|PMID:16204011|PMID:16204070|PMID:16258541|PMID:16857818|PMID:16865253|PMID:16912157|PMID:16956694|PMID:17020982|PMID:17047654|PMID:17085664|PMID:17106442|PMID:17192902|PMID:17285735|PMID:17317677|PMID:17332364|PMID:17387341|PMID:17429313|PMID:17473659|PMID:17510392|PMID:17726540|PMID:17877814|PMID:18093943|PMID:18227510|PMID:18303429|PMID:18408761|PMID:18509184|PMID:18596266|PMID:18981003|PMID:18992959|PMID:19096302|PMID:19096324|PMID:19147750|PMID:19381876|PMID:19455431|PMID:19589612|PMID:19692680|PMID:19692684|PMID:19922469|PMID:20022809|PMID:20033049|PMID:20038723|PMID:20068085|PMID:20129249|PMID:20479403|PMID:20573926|PMID:21132006|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21430269|PMID:21531810|PMID:21670455|PMID:21783417|PMID:21900837|PMID:21921847|PMID:22215752|PMID:22285168|PMID:22370314|PMID:22452895|PMID:22452896|PMID:22588155|PMID:22753918|PMID:22760226|PMID:22848293|PMID:22992668|PMID:23102728|PMID:23242437|PMID:23358982|PMID:23540867|PMID:23816960|PMID:23816963|PMID:23948351|PMID:23982599|PMID:24033266|PMID:24065731|PMID:24202392|PMID:24439929|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24712396|PMID:24729716|PMID:24736066|PMID:24736073|PMID:24736080|PMID:24868098|PMID:24893891|PMID:25157968|PMID:25176975|PMID:25382819|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:25969368|PMID:26066407|PMID:26101090|PMID:26490356|PMID:26515464|PMID:26619011|PMID:26700910|PMID:26720284|PMID:26901136|PMID:27032107|PMID:27102076|PMID:27993330|PMID:28492532|PMID:28874603|PMID:28947568|PMID:29228562|PMID:29576263|PMID:29625052|PMID:29945477|PMID:30610926|PMID:31314158|PMID:31779674|PMID:33326033|PMID:33644199|PMID:33898318|PMID:34555730 11704382 EGFR epidermal growth factor receptor gene DOID:13976 peptic esophagitis ISO RGD:2543 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:esophagus, basal cell PMID:11966524|REF_RGD_ID:10395244 11704382 EGFR epidermal growth factor receptor gene DOID:14330 Parkinson's disease ISO RGD:69152 D RGD:9068941 20200609 RGD protein:decreased expression:forebrain PMID:15857400|REF_RGD_ID:2289955 11704382 EGFR epidermal growth factor receptor gene DOID:1612 breast cancer ISO RGD:69152 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:17465220|REF_RGD_ID:2289949 11704382 EGFR epidermal growth factor receptor gene DOID:1712 aortic valve stenosis ISO RGD:10511 D RGD:9068941 20200609 RGD PMID:10700187|REF_RGD_ID:734918 11704382 EGFR epidermal growth factor receptor gene DOID:1749 squamous cell carcinoma ISO RGD:69152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:25157968|PMID:27993330 11704382 EGFR epidermal growth factor receptor gene DOID:1790 malignant mesothelioma ISO RGD:69152 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27032653 11704382 EGFR epidermal growth factor receptor gene DOID:1793 pancreatic cancer ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27720938 11704382 EGFR epidermal growth factor receptor gene DOID:1793 pancreatic cancer ISO RGD:69152 D RGD:9068941 20200609 RGD PMID:17452677|REF_RGD_ID:5131631 11704382 EGFR epidermal growth factor receptor gene DOID:1969 cerebral palsy ISO RGD:69152 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868|PMID:28492532|PMID:28726809|PMID:29899996|PMID:7630400 11704382 EGFR epidermal growth factor receptor gene DOID:1984 rectal benign neoplasm ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16839708 11704382 EGFR epidermal growth factor receptor gene DOID:2394 ovarian cancer ISO RGD:69152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25382819|PMID:25741868|PMID:28492532 11704382 EGFR epidermal growth factor receptor gene DOID:2615 papilloma ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8603490 11704382 EGFR epidermal growth factor receptor gene DOID:2615 papilloma susceptibility ISO RGD:10511 D RGD:9068941 20200609 RGD PMID:10943841|REF_RGD_ID:734919 11704382 EGFR epidermal growth factor receptor gene DOID:2671 transitional cell carcinoma ISO RGD:69152 D RGD:9068941 20200609 RGD PMID:3499520|REF_RGD_ID:10395259 11704382 EGFR epidermal growth factor receptor gene DOID:2671 transitional cell carcinoma ISO RGD:69152 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder PMID:16469638|REF_RGD_ID:2289980 11704382 EGFR epidermal growth factor receptor gene DOID:2723 dermatitis ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27206134 11704382 EGFR epidermal growth factor receptor gene DOID:2841 asthma ISO RGD:10511 D RGD:9068941 20200609 RGD PMID:21224214|REF_RGD_ID:5131633 11704382 EGFR epidermal growth factor receptor gene DOID:2841 asthma ISO RGD:10511 D RGD:9068941 20200609 RGD protein:increased expression:lung epithelium (mouse) PMID:21072743|REF_RGD_ID:5131642 11704382 EGFR epidermal growth factor receptor gene DOID:2841 asthma ISO RGD:2543 D RGD:9068941 20200609 RGD protein:increased expression:lung epithelium (rat) PMID:19954006|REF_RGD_ID:5131870 11704382 EGFR epidermal growth factor receptor gene DOID:2841 asthma severity ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:bronchial epithelium (human) PMID:12580917|REF_RGD_ID:5131468 11704382 EGFR epidermal growth factor receptor gene DOID:2871 endometrial carcinoma ISO RGD:69152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:28492532 11704382 EGFR epidermal growth factor receptor gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:69152 D RGD:9068941 20210423 RGD PMID:22549618|REF_RGD_ID:126790474 11704382 EGFR epidermal growth factor receptor gene DOID:289 endometriosis ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 11704382 EGFR epidermal growth factor receptor gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:10511 D RGD:9068941 20200911 RGD PMID:28404843|REF_RGD_ID:38599178 11704382 EGFR epidermal growth factor receptor gene DOID:2957 pulmonary tuberculosis disease_progression ISO RGD:69152 D RGD:9068941 20200911 RGD associated with lung adenocarcinoma; PMID:22173705|PMID:29621876|REF_RGD_ID:38599162|REF_RGD_ID:38599176 11704382 EGFR epidermal growth factor receptor gene DOID:299 adenocarcinoma ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20934974|PMID:21541241|PMID:22042947|PMID:2523869|PMID:27720938 11704382 EGFR epidermal growth factor receptor gene DOID:3021 acute kidney failure ISO RGD:2543 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:11340354|REF_RGD_ID:10395241 11704382 EGFR epidermal growth factor receptor gene DOID:3021 acute kidney failure ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14638913 11704382 EGFR epidermal growth factor receptor gene DOID:305 carcinoma ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15302576 11704382 EGFR epidermal growth factor receptor gene DOID:3068 glioblastoma ISO RGD:69152 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma multiforme, somatic PMID:15118073|PMID:15118125|PMID:15329413|PMID:15710947|PMID:15738541|PMID:16011858|PMID:16115929|PMID:17177598|PMID:18199554|PMID:18458038|PMID:19536777|PMID:19671738|PMID:19922469|PMID:20479403|PMID:21531810|PMID:21841502|PMID:22753918|PMID:2302402|PMID:23102728|PMID:23242437|PMID:23945392|PMID:24033266|PMID:25157968|PMID:26619011|PMID:31396478 11704382 EGFR epidermal growth factor receptor gene DOID:3070 high grade glioma ISO RGD:69152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brainstem glioma PMID:17177598|PMID:26619011 11704382 EGFR epidermal growth factor receptor gene DOID:3070 high grade glioma treatment ISO RGD:2543 D RGD:9068941 20200917 RGD PMID:10616092|REF_RGD_ID:38599219 11704382 EGFR epidermal growth factor receptor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:2543 D RGD:9068941 20200609 RGD PMID:22732689|REF_RGD_ID:7204496 11704382 EGFR epidermal growth factor receptor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:bronchial epithelium (human) PMID:16393673|REF_RGD_ID:5131627 11704382 EGFR epidermal growth factor receptor gene DOID:3347 osteosarcoma ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22235915 11704382 EGFR epidermal growth factor receptor gene DOID:3459 breast carcinoma ISO RGD:69152 D RGD:9068941 20200609 RGD DNA:amplification:cds, 3' utr (human) PMID:18413808|REF_RGD_ID:2293732 11704382 EGFR epidermal growth factor receptor gene DOID:3459 breast carcinoma disease_progression ISO RGD:69152 D RGD:9068941 20200609 RGD PMID:18522728|REF_RGD_ID:2293728 11704382 EGFR epidermal growth factor receptor gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:69152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal squamous cell carcinoma PMID:23485129|PMID:25157968 11704382 EGFR epidermal growth factor receptor gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:esophagus (human) PMID:10385363|REF_RGD_ID:5131486 11704382 EGFR epidermal growth factor receptor gene DOID:3770 pulmonary fibrosis ISO RGD:10511 D RGD:9068941 20200609 RGD PMID:21177177|PMID:8879184|REF_RGD_ID:5131634|REF_RGD_ID:5131638 11704382 EGFR epidermal growth factor receptor gene DOID:3770 pulmonary fibrosis ISO RGD:2543 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:7524566|REF_RGD_ID:5131873 11704382 EGFR epidermal growth factor receptor gene DOID:3905 lung carcinoma ISO RGD:69152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15623594|PMID:15728811|PMID:15737014|PMID:15788655|PMID:15897572|PMID:15901872|PMID:16043828|PMID:16115929|PMID:16203769|PMID:16204011|PMID:16204070|PMID:16258541|PMID:16533793|PMID:16857818|PMID:16863509|PMID:16865253|PMID:16912157|PMID:16956694|PMID:17020982|PMID:17047654|PMID:17085664|PMID:17106442|PMID:17192902|PMID:17236554|PMID:17285735|PMID:17317677|PMID:17332364|PMID:17368623|PMID:17387341|PMID:17429313|PMID:17473659|PMID:17510392|PMID:17726540|PMID:17877814|PMID:17904685|PMID:17941001|PMID:17973572|PMID:18000506|PMID:18093943|PMID:18176089|PMID:18227510|PMID:18261621|PMID:18303429|PMID:18372921|PMID:18408761|PMID:18509184|PMID:18596266|PMID:18981003|PMID:18992959|PMID:19096301|PMID:19096302|PMID:19096324|PMID:19147750|PMID:19381876|PMID:19455431|PMID:19536777|PMID:19589612|PMID:19692680|PMID:19692684|PMID:19922469|PMID:20022809|PMID:20033049|PMID:20038723|PMID:20068085|PMID:20129249|PMID:20479403|PMID:20573926|PMID:21057810|PMID:21132006|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21430269|PMID:21531810|PMID:21670455|PMID:21783417|PMID:21841502|PMID:21899495|PMID:21900837|PMID:21921847|PMID:22215752|PMID:22285168|PMID:22370314|PMID:22452895|PMID:22452896|PMID:22483783|PMID:22588155|PMID:22753918|PMID:22760226|PMID:22848293|PMID:22992668|PMID:23026641|PMID:23102728|PMID:23371856|PMID:23468066|PMID:23540867|PMID:23816960|PMID:23816963|PMID:23912954|PMID:23948351|PMID:23982599|PMID:24033266|PMID:24065731|PMID:24202392|PMID:24439929|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24729716|PMID:24736066|PMID:24736073|PMID:24736080|PMID:24868098|PMID:24893891|PMID:25157968|PMID:25176975|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:26490356|PMID:26515464|PMID:26619011|PMID:26700910|PMID:26720284|PMID:27032107|PMID:27102076|PMID:27993330|PMID:28492532|PMID:28947568|PMID:30610926|PMID:31314158|PMID:31779674|PMID:32913967|PMID:33326033|PMID:33707471 11704382 EGFR epidermal growth factor receptor gene DOID:3907 lung squamous cell carcinoma ISO RGD:69152 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:1111234672|PMID:15118073|PMID:15118125|PMID:15329413|PMID:15623594|PMID:15897572|PMID:16043828|PMID:16205628|PMID:16707764|PMID:16863509|PMID:16931592|PMID:17368623|PMID:17653080|PMID:17973572|PMID:18000506|PMID:18372921|PMID:18509184|PMID:19147750|PMID:19536777|PMID:19922469|PMID:20522446|PMID:20942962|PMID:22753918|PMID:23102728|PMID:23945392|PMID:24033266|PMID:25157968|PMID:25382819|PMID:25521405|PMID:25741868|PMID:26051236|PMID:26619011|PMID:27294619|PMID:28492532|PMID:29141884|PMID:30098700|PMID:30610926|PMID:32171629|PMID:32978515|PMID:32978518 11704382 EGFR epidermal growth factor receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:69152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Non-small cell lung cancer | ClinVar Annotator: match by term: Non-small cell lung carcinoma | ClinVar Annotator: match by term: Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15604253|PMID:15623594|PMID:15625347|PMID:15681531|PMID:15710947|PMID:15728811|PMID:15737014|PMID:15738541|PMID:15741570|PMID:15788655|PMID:15897572|PMID:15901872|PMID:15998907|PMID:16011858|PMID:16105816|PMID:16115929|PMID:16187797|PMID:16199108|PMID:16203769|PMID:16204011|PMID:16204070|PMID:16205628|PMID:16258541|PMID:16467085|PMID:16533793|PMID:16707764|PMID:16730855|PMID:16863509|PMID:16865253|PMID:16912157|PMID:16956694|PMID:17020982|PMID:17047654|PMID:17085664|PMID:17106442|PMID:17192902|PMID:17285735|PMID:17317677|PMID:17332364|PMID:17387341|PMID:17429313|PMID:17473653|PMID:17473659|PMID:17510392|PMID:17545553|PMID:17653080|PMID:17726540|PMID:17877814|PMID:17904685|PMID:18089823|PMID:18093943|PMID:18176089|PMID:18199554|PMID:18227510|PMID:18303429|PMID:18325048|PMID:18334834|PMID:18372921|PMID:18408761|PMID:18450321|PMID:18458038|PMID:18509184|PMID:18596266|PMID:18628075|PMID:18948947|PMID:18981003|PMID:18992959|PMID:19096302|PMID:19096324|PMID:19147750|PMID:19381876|PMID:19455431|PMID:19536777|PMID:19589612|PMID:19671738|PMID:19692680|PMID:19692684|PMID:19922469|PMID:20022809|PMID:20033049|PMID:20038723|PMID:20068085|PMID:20129249|PMID:20479403|PMID:20522446|PMID:20559149|PMID:20573926|PMID:20808254|PMID:21057810|PMID:21132006|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21317742|PMID:21430269|PMID:21527506|PMID:21531810|PMID:21572125|PMID:21592614|PMID:21670455|PMID:21718596|PMID:21783417|PMID:21841502|PMID:21899495|PMID:21900837|PMID:21921847|PMID:22019513|PMID:22215752|PMID:22285168|PMID:22370314|PMID:22452895|PMID:22452896|PMID:22588155|PMID:22622260|PMID:22753918|PMID:22760226|PMID:22809298|PMID:22992668|PMID:2302402|PMID:23102728|PMID:23242437|PMID:23358982|PMID:23468066|PMID:23485129|PMID:23540867|PMID:23800712|PMID:23816960|PMID:23816963|PMID:23945392|PMID:23948351|PMID:23982599|PMID:24033266|PMID:24039832|PMID:24065731|PMID:24202392|PMID:24439929|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24712396|PMID:24729716|PMID:24736066|PMID:24736073|PMID:24736080|PMID:24868098|PMID:24893891|PMID:24894453|PMID:24934779|PMID:25061320|PMID:25157968|PMID:25382819|PMID:25521405|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:25939061|PMID:25948633|PMID:25969368|PMID:26051236|PMID:26101090|PMID:26490356|PMID:26515464|PMID:26619011|PMID:26700910|PMID:26720284|PMID:27032107|PMID:27102076|PMID:27294619|PMID:27993330|PMID:28492532|PMID:28874603|PMID:28947568|PMID:29100434|PMID:29141884|PMID:29576263|PMID:29945477|PMID:30610926|PMID:31396478|PMID:31779674|PMID:33644199|PMID:33898318|PMID:34555730 11704382 EGFR epidermal growth factor receptor gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:69152 D RGD:9068941 20220901 RGD human cells in mouse model PMID:31205511|PMID:32276600|REF_RGD_ID:151357000|REF_RGD_ID:153344584 11704382 EGFR epidermal growth factor receptor gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:69152 D RGD:9068941 20210423 RGD PMID:11789762|REF_RGD_ID:126790479 11704382 EGFR epidermal growth factor receptor gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:69152 D RGD:9068941 20200609 RGD protein:decreased expression:tumor (human) PMID:21124077|REF_RGD_ID:5131640 11704382 EGFR epidermal growth factor receptor gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:69152 D RGD:9068941 20200609 RGD PMID:27040853|REF_RGD_ID:13464349 11704382 EGFR epidermal growth factor receptor gene DOID:3910 lung adenocarcinoma ISO RGD:69152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Adenocarcinoma of lung, somatic | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:1111234672|PMID:15118073|PMID:15118125|PMID:15329413|PMID:15710947|PMID:15737014|PMID:15738541|PMID:15897572|PMID:15901872|PMID:16011858|PMID:16115929|PMID:16203769|PMID:16204011|PMID:16204070|PMID:16865253|PMID:16956694|PMID:17047654|PMID:17106442|PMID:17177598|PMID:17192902|PMID:17285735|PMID:17317677|PMID:17387341|PMID:17429313|PMID:17473659|PMID:17877814|PMID:18199554|PMID:18303429|PMID:18408761|PMID:18458038|PMID:18509184|PMID:19096302|PMID:19147750|PMID:19455431|PMID:19536777|PMID:19671738|PMID:19692680|PMID:19692684|PMID:19922469|PMID:20022809|PMID:20038723|PMID:20479403|PMID:20573926|PMID:20942962|PMID:21132006|PMID:21531810|PMID:21670455|PMID:21783417|PMID:21841502|PMID:21900837|PMID:22215752|PMID:22285168|PMID:22370314|PMID:22452895|PMID:22622260|PMID:22753918|PMID:22760226|PMID:22992668|PMID:2302402|PMID:23102728|PMID:23242437|PMID:23816960|PMID:23945392|PMID:23948351|PMID:23982599|PMID:24033266|PMID:24212795|PMID:24439929|PMID:24736073|PMID:24868098|PMID:24893891|PMID:25157968|PMID:25382819|PMID:25741868|PMID:26066407|PMID:26490356|PMID:26515464|PMID:26619011|PMID:27032107|PMID:27102076|PMID:27294619|PMID:27993330|PMID:28492532|PMID:29228562|PMID:30098700|PMID:30610926|PMID:31396478|PMID:31779674|PMID:32171629|PMID:32978515|PMID:32978518 11704382 EGFR epidermal growth factor receptor gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:69152 D RGD:9068941 20210423 RGD PMID:26824984|REF_RGD_ID:126790475 11704382 EGFR epidermal growth factor receptor gene DOID:3948 adrenocortical carcinoma ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23585556 11704382 EGFR epidermal growth factor receptor gene DOID:4450 renal cell carcinoma ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:tumor PMID:18467719|REF_RGD_ID:2293730 11704382 EGFR epidermal growth factor receptor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11704382 EGFR epidermal growth factor receptor gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:10511 D RGD:9068941 20200609 RGD DNA:mutations:exons: PMID:26059825|REF_RGD_ID:11075076 11704382 EGFR epidermal growth factor receptor gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:2543 D RGD:9068941 20200609 RGD DNA:mutations:exons: PMID:26059825|REF_RGD_ID:11075076 11704382 EGFR epidermal growth factor receptor gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:69152 D RGD:9068941 20200609 RGD DNA:snp:cds:p.T790M (human) PMID:15737014|REF_RGD_ID:5131465 11704382 EGFR epidermal growth factor receptor gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:tumor (human) PMID:21419590|REF_RGD_ID:5131630 11704382 EGFR epidermal growth factor receptor gene DOID:4947 cholangiocarcinoma ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17341899 11704382 EGFR epidermal growth factor receptor gene DOID:5082 liver cirrhosis severity ISO RGD:69152 D RGD:9068941 20200609 RGD associated with non-alcoholic fatty liver disease;protein:increased expression:plasma PMID:28650518|REF_RGD_ID:14401722 11704382 EGFR epidermal growth factor receptor gene DOID:5409 lung small cell carcinoma ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20837450 11704382 EGFR epidermal growth factor receptor gene DOID:5419 schizophrenia ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:prefrontal cortex (human) PMID:12192610|REF_RGD_ID:5131451 11704382 EGFR epidermal growth factor receptor gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:69152 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:15118073|PMID:15118125|PMID:15788655|PMID:17177598|PMID:20415598|PMID:21531084|PMID:23242437|PMID:23358982|PMID:24712396|PMID:25157968|PMID:25382819|PMID:25969368|PMID:26101090|PMID:26619011|PMID:28492532|PMID:28874603|PMID:29945477|PMID:31775759|PMID:34555730 11704382 EGFR epidermal growth factor receptor gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:69152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:15118073|PMID:15118125|PMID:15788655|PMID:17177598|PMID:20415598|PMID:21531084|PMID:23242437|PMID:23358982|PMID:24712396|PMID:25157968|PMID:25382819|PMID:25741868|PMID:25969368|PMID:26101090|PMID:26619011|PMID:28492532|PMID:28874603|PMID:29576263|PMID:29945477|PMID:31775759|PMID:33644199|PMID:33898318|PMID:34555730 11704382 EGFR epidermal growth factor receptor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 11704382 EGFR epidermal growth factor receptor gene DOID:571 median neuropathy ISO RGD:2543 D RGD:9068941 20210423 RGD PMID:18845940|REF_RGD_ID:126790486 11704382 EGFR epidermal growth factor receptor gene DOID:62 aortic valve disease ISO RGD:10511 D RGD:9068941 20220825 MouseDO 11704382 EGFR epidermal growth factor receptor gene DOID:630 genetic disease ISO RGD:69152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11704382 EGFR epidermal growth factor receptor gene DOID:6432 pulmonary hypertension ISO RGD:10511 D RGD:9068941 20200609 RGD PMID:12896876|REF_RGD_ID:5131639 11704382 EGFR epidermal growth factor receptor gene DOID:6432 pulmonary hypertension ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:lung, arteriole (human) PMID:21492463|REF_RGD_ID:5131626 11704382 EGFR epidermal growth factor receptor gene DOID:684 hepatocellular carcinoma ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9029167 11704382 EGFR epidermal growth factor receptor gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:69152 D RGD:9068941 20210423 RGD PMID:11355950|REF_RGD_ID:126781769 11704382 EGFR epidermal growth factor receptor gene DOID:850 lung disease ISO RGD:2543 D RGD:9068941 20200609 RGD Acute Lung Injury; mRNA:increased expression:lung (rat) PMID:9700116|REF_RGD_ID:1578630 11704382 EGFR epidermal growth factor receptor gene DOID:8947 diabetic retinopathy ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:7947554|REF_RGD_ID:1580957 11704382 EGFR epidermal growth factor receptor gene DOID:8947 diabetic retinopathy treatment ISO RGD:10511 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23831329|REF_RGD_ID:10059675 11704382 EGFR epidermal growth factor receptor gene DOID:9000011 Gallbladder Neoplasms ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24997986 11704382 EGFR epidermal growth factor receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:2543 D RGD:9068941 20200609 RGD PMID:20869112|REF_RGD_ID:5131525 11704382 EGFR epidermal growth factor receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:2543 D RGD:9068941 20200609 RGD protein:increased phosphorylation:spinal cord, astrocyte (rat) PMID:21402118|REF_RGD_ID:5131454 11704382 EGFR epidermal growth factor receptor gene DOID:9000081 Lymphatic Metastasis treatment ISO RGD:10511 D RGD:9068941 20200609 RGD associated with Squamous Cell Carcinoma of the Tongue PMID:19380367|REF_RGD_ID:8551769 11704382 EGFR epidermal growth factor receptor gene DOID:9000117 Esophageal Neoplasms ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21298351|PMID:21468131|PMID:22042947 11704382 EGFR epidermal growth factor receptor gene DOID:9000184 Ventricular Fibrillation treatment ISO RGD:2543 D RGD:9068941 20200917 RGD PMID:22028338|REF_RGD_ID:38676260 11704382 EGFR epidermal growth factor receptor gene DOID:9000217 Stomach Neoplasms ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15723263|PMID:21173787|PMID:22042947 11704382 EGFR epidermal growth factor receptor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8603490 11704382 EGFR epidermal growth factor receptor gene DOID:9000918 Disease Progression ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20859196 11704382 EGFR epidermal growth factor receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17369752|PMID:17575224|PMID:23867902 11704382 EGFR epidermal growth factor receptor gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:10511 D RGD:9068941 20200917 RGD PMID:30502657|REF_RGD_ID:38599215 11704382 EGFR epidermal growth factor receptor gene DOID:9001310 Tobacco Use Disorder ISO RGD:2543 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (rat) PMID:21475988|REF_RGD_ID:5131452 11704382 EGFR epidermal growth factor receptor gene DOID:9001341 Chloracne ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21237254 11704382 EGFR epidermal growth factor receptor gene DOID:9002221 Hyperplasia ISO RGD:2543 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery (rat) PMID:21357274|REF_RGD_ID:5131466 11704382 EGFR epidermal growth factor receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:69152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate neoplasm PMID:23485129|PMID:25157968 11704382 EGFR epidermal growth factor receptor gene DOID:9002457 Experimental Arthritis ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7589090 11704382 EGFR epidermal growth factor receptor gene DOID:9002762 Ovarian Neoplasms ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16211241|PMID:21909139 11704382 EGFR epidermal growth factor receptor gene DOID:9002762 Ovarian Neoplasms ISO RGD:69152 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:18575766|REF_RGD_ID:2298499 11704382 EGFR epidermal growth factor receptor gene DOID:9002762 Ovarian Neoplasms severity ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:mammary tumor cell, nucleus (human) PMID:19058255|REF_RGD_ID:5131867 11704382 EGFR epidermal growth factor receptor gene DOID:9002850 Immediate Hypersensitivity ISO RGD:69152 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:20357714|REF_RGD_ID:5131868 11704382 EGFR epidermal growth factor receptor gene DOID:9002928 Colonic Neoplasms ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14569062|PMID:25200834 11704382 EGFR epidermal growth factor receptor gene DOID:9002936 Bile Duct Neoplasms ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17341899 11704382 EGFR epidermal growth factor receptor gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18703609|PMID:20859196|PMID:21329967 11704382 EGFR epidermal growth factor receptor gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17465227|REF_RGD_ID:2289947 11704382 EGFR epidermal growth factor receptor gene DOID:9003566 Mesothelioma ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21787763 11704382 EGFR epidermal growth factor receptor gene DOID:9003613 Laryngeal Neoplasms severity ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:tumor (human) PMID:8883413|REF_RGD_ID:5131485 11704382 EGFR epidermal growth factor receptor gene DOID:9003936 Cardiomegaly ISO RGD:10511 D RGD:9068941 20200609 RGD PMID:15652507|REF_RGD_ID:1580954 11704382 EGFR epidermal growth factor receptor gene DOID:9004240 Phyllodes Tumor disease_progression ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:tumor PMID:11206334|REF_RGD_ID:2289951 11704382 EGFR epidermal growth factor receptor gene DOID:9004265 Endometrioid Carcinomas ISO RGD:69152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation PMID:22885469 11704382 EGFR epidermal growth factor receptor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18844224|PMID:23867902 11704382 EGFR epidermal growth factor receptor gene DOID:9004610 Acute Lung Injury ISO RGD:10511 D RGD:9068941 20200609 RGD PMID:20935109|REF_RGD_ID:5131862 11704382 EGFR epidermal growth factor receptor gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:2543 D RGD:9068941 20200609 RGD PMID:12624003|REF_RGD_ID:1580955 11704382 EGFR epidermal growth factor receptor gene DOID:9004771 Vascular Remodeling treatment ISO RGD:2543 D RGD:9068941 20200917 RGD PMID:31264901|REF_RGD_ID:38599217 11704382 EGFR epidermal growth factor receptor gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21786012|PMID:22277784 11704382 EGFR epidermal growth factor receptor gene DOID:9005172 Lung Neoplasms ISO RGD:69152 D RGD:7240710 20230505 OMIM 11704382 EGFR epidermal growth factor receptor gene DOID:9005172 Lung Neoplasms ISO RGD:69152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: EGFR-related lung cancer PMID:1111234672|PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15604253|PMID:15623594|PMID:15625347|PMID:15710947|PMID:15728811|PMID:15737014|PMID:15741570|PMID:15746034|PMID:15901872|PMID:15998907|PMID:16011858|PMID:16105816|PMID:16115929|PMID:16166444|PMID:16187797|PMID:16199108|PMID:16199547|PMID:16204070|PMID:16258541|PMID:16467080|PMID:16467085|PMID:16533793|PMID:16857818|PMID:16912157|PMID:17020982|PMID:17085664|PMID:17177598|PMID:17192902|PMID:17285735|PMID:17332364|PMID:17473653|PMID:17510392|PMID:17576681|PMID:17726540|PMID:17877814|PMID:17904685|PMID:18093943|PMID:18176089|PMID:18193092|PMID:18227510|PMID:18325048|PMID:18334834|PMID:18355544|PMID:18379371|PMID:18495026|PMID:18497962|PMID:18528899|PMID:18596266|PMID:18948947|PMID:18981003|PMID:18992959|PMID:19059670|PMID:19096324|PMID:19147750|PMID:19381876|PMID:19536777|PMID:19589612|PMID:19671738|PMID:19844187|PMID:19922469|PMID:20033049|PMID:20068085|PMID:20129249|PMID:20479403|PMID:20559149|PMID:20808254|PMID:20823418|PMID:20942962|PMID:21057810|PMID:21172876|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21274259|PMID:21317742|PMID:21430269|PMID:21527506|PMID:21531810|PMID:21592614|PMID:21841502|PMID:21899495|PMID:21921847|PMID:22019513|PMID:22215752|PMID:22270724|PMID:22452896|PMID:22588155|PMID:22753918|PMID:22760226|PMID:22809298|PMID:22848293|PMID:22992668|PMID:23102728|PMID:23242437|PMID:23358982|PMID:23380224|PMID:23468066|PMID:23468851|PMID:23540867|PMID:23800712|PMID:23816963|PMID:23912954|PMID:24033266|PMID:24039832|PMID:24065731|PMID:24202392|PMID:24212795|PMID:24326041|PMID:24406864|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24691054|PMID:24712396|PMID:24728327|PMID:24729716|PMID:24736066|PMID:24736080|PMID:24743239|PMID:24893891|PMID:24894453|PMID:25057940|PMID:25061320|PMID:25111073|PMID:25157968|PMID:25176975|PMID:25288236|PMID:25382819|PMID:25498243|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:25939061|PMID:25948633|PMID:25969368|PMID:26066407|PMID:26101090|PMID:26280531|PMID:26436111|PMID:26467025|PMID:26515464|PMID:26700910|PMID:26720284|PMID:26870997|PMID:26901136|PMID:26987750|PMID:27294619|PMID:27993330|PMID:28135048|PMID:28229982|PMID:28286242|PMID:28492532|PMID:28726809|PMID:28835699|PMID:28838405|PMID:28874603|PMID:28947568|PMID:28979142|PMID:29100434|PMID:29228562|PMID:29290256|PMID:29576263|PMID:29587953|PMID:29625052|PMID:29899996|PMID:29945477|PMID:30098700|PMID:30325992|PMID:30405134|PMID:30588029|PMID:30610926|PMID:30796031|PMID:30981987|PMID:31290142|PMID:31314158|PMID:32171629|PMID:32512509|PMID:32602142|PMID:32913967|PMID:32978515|PMID:32978518|PMID:33326033|PMID:33644199|PMID:33707471|PMID:33898318|PMID:34012789|PMID:34555730|PMID:7630400|PMID:9536098 11704382 EGFR epidermal growth factor receptor gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21786012 11704382 EGFR epidermal growth factor receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2523869|PMID:8603490 11704382 EGFR epidermal growth factor receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69152 D RGD:9068941 20200609 RGD PMID:17203220|REF_RGD_ID:2289979 11704382 EGFR epidermal growth factor receptor gene DOID:9005372 Inflammation ISO RGD:2543 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries PMID:22824323|REF_RGD_ID:7204495 11704382 EGFR epidermal growth factor receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2543 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation:cornea PMID:21330660|REF_RGD_ID:5131482 11704382 EGFR epidermal growth factor receptor gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:2543 D RGD:9068941 20200917 RGD PMID:31264901|REF_RGD_ID:38599217 11704382 EGFR epidermal growth factor receptor gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced treatment ISO RGD:2543 D RGD:9068941 20200917 RGD PMID:31264901|REF_RGD_ID:38599217 11704382 EGFR epidermal growth factor receptor gene DOID:9006169 Head and Neck Neoplasms ISO RGD:69152 D RGD:9068941 20220901 CTD CTD Direct Evidence: marker/mechanism PMID:12942316|PMID:15342401|PMID:23917044 11704382 EGFR epidermal growth factor receptor gene DOID:9006169 Head and Neck Neoplasms ISO RGD:69152 D RGD:9068941 20220901 RGD PMID:16467544|REF_RGD_ID:5131641 11704382 EGFR epidermal growth factor receptor gene DOID:9006586 Neonatal Inflammatory Skin and Bowel Disease 2 ISO RGD:69152 D RGD:7240710 20230505 OMIM 11704382 EGFR epidermal growth factor receptor gene DOID:9006586 Neonatal Inflammatory Skin and Bowel Disease 2 ISO RGD:69152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inflammatory skin and bowel disease, neonatal, 2 PMID:24033266|PMID:24691054|PMID:24728327|PMID:25741868|PMID:26436111|PMID:28492532|PMID:32602142 11704382 EGFR epidermal growth factor receptor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69152 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:1111234672|PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15623594|PMID:15728811|PMID:15737014|PMID:15901872|PMID:16199547|PMID:16258541|PMID:16467080|PMID:16857818|PMID:16912157|PMID:17020982|PMID:17085664|PMID:17285735|PMID:17332364|PMID:17510392|PMID:17576681|PMID:17726540|PMID:17877814|PMID:18093943|PMID:18227510|PMID:18495026|PMID:18596266|PMID:18981003|PMID:18992959|PMID:19096324|PMID:19381876|PMID:19589612|PMID:20033049|PMID:20068085|PMID:20129249|PMID:20942962|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21430269|PMID:21531810|PMID:21921847|PMID:22215752|PMID:22452896|PMID:22588155|PMID:22848293|PMID:22992668|PMID:23102728|PMID:23540867|PMID:23816963|PMID:24033266|PMID:24065731|PMID:24202392|PMID:24326041|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24728327|PMID:24729716|PMID:24736066|PMID:24736080|PMID:24893891|PMID:25111073|PMID:25157968|PMID:25176975|PMID:25288236|PMID:25382819|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:26515464|PMID:26700910|PMID:26720284|PMID:27294619|PMID:28166811|PMID:28492532|PMID:28726809|PMID:28835699|PMID:28947568|PMID:29290256|PMID:29625052|PMID:29899996|PMID:30098700|PMID:30325992|PMID:30610926|PMID:30981987|PMID:31314158|PMID:32171629|PMID:32512509|PMID:32913967|PMID:32978515|PMID:32978518|PMID:33326033|PMID:33707471|PMID:7630400|PMID:9536098 11704382 EGFR epidermal growth factor receptor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:1111234672|PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15623594|PMID:15728811|PMID:15737014|PMID:15901872|PMID:16199547|PMID:16258541|PMID:16467080|PMID:16857818|PMID:16912157|PMID:17020982|PMID:17085664|PMID:17285735|PMID:17332364|PMID:17510392|PMID:17576681|PMID:17726540|PMID:17877814|PMID:18093943|PMID:18227510|PMID:18495026|PMID:18596266|PMID:18981003|PMID:18992959|PMID:19096324|PMID:19381876|PMID:19589612|PMID:20033049|PMID:20068085|PMID:20129249|PMID:20942962|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21430269|PMID:21531810|PMID:21921847|PMID:22215752|PMID:22452896|PMID:22588155|PMID:22848293|PMID:22992668|PMID:23102728|PMID:23242437|PMID:23358982|PMID:23540867|PMID:23816963|PMID:24033266|PMID:24065731|PMID:24202392|PMID:24326041|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24712396|PMID:24728327|PMID:24729716|PMID:24736066|PMID:24736080|PMID:24893891|PMID:25111073|PMID:25157968|PMID:25176975|PMID:25288236|PMID:25382819|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:25969368|PMID:26101090|PMID:26467025|PMID:26515464|PMID:26700910|PMID:26720284|PMID:26870997|PMID:27294619|PMID:28492532|PMID:28726809|PMID:28835699|PMID:28874603|PMID:28947568|PMID:29290256|PMID:29625052|PMID:29899996|PMID:29945477|PMID:30098700|PMID:30325992|PMID:30610926|PMID:30981987|PMID:31314158|PMID:32171629|PMID:32512509|PMID:32913967|PMID:32978515|PMID:32978518|PMID:33326033|PMID:33644199|PMID:33707471|PMID:34555730|PMID:7630400|PMID:9536098 11704382 EGFR epidermal growth factor receptor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:1111234672|PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15623594|PMID:15728811|PMID:15737014|PMID:15901872|PMID:16199547|PMID:16258541|PMID:16467080|PMID:16857818|PMID:16912157|PMID:17020982|PMID:17085664|PMID:17285735|PMID:17332364|PMID:17510392|PMID:17576681|PMID:17726540|PMID:17877814|PMID:18093943|PMID:18227510|PMID:18495026|PMID:18596266|PMID:18981003|PMID:18992959|PMID:19096324|PMID:19381876|PMID:19589612|PMID:20033049|PMID:20068085|PMID:20129249|PMID:20942962|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21430269|PMID:21531810|PMID:21921847|PMID:22215752|PMID:22452896|PMID:22588155|PMID:22848293|PMID:22992668|PMID:23102728|PMID:23242437|PMID:23358982|PMID:23540867|PMID:23816963|PMID:24033266|PMID:24065731|PMID:24202392|PMID:24326041|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24712396|PMID:24728327|PMID:24729716|PMID:24736066|PMID:24736080|PMID:24893891|PMID:25111073|PMID:25157968|PMID:25176975|PMID:25288236|PMID:25382819|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:25969368|PMID:26101090|PMID:26467025|PMID:26515464|PMID:26700910|PMID:26720284|PMID:26870997|PMID:27294619|PMID:28492532|PMID:28726809|PMID:28835699|PMID:28874603|PMID:28947568|PMID:29290256|PMID:29576263|PMID:29625052|PMID:29899996|PMID:29945477|PMID:30098700|PMID:30325992|PMID:30610926|PMID:30981987|PMID:31314158|PMID:32171629|PMID:32512509|PMID:32913967|PMID:32978515|PMID:32978518|PMID:33326033|PMID:33644199|PMID:33707471|PMID:33898318|PMID:34555730|PMID:7630400|PMID:9536098 11704382 EGFR epidermal growth factor receptor gene DOID:9007502 Brain Neoplasms ISO RGD:69152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of brain PMID:17177598|PMID:26619011 11704382 EGFR epidermal growth factor receptor gene DOID:9007692 Insulin Resistance ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22238402 11704382 EGFR epidermal growth factor receptor gene DOID:9008114 Helicobacter Infections treatment ISO RGD:10511 D RGD:9068941 20200917 RGD PMID:28473630|REF_RGD_ID:38599214 11704382 EGFR epidermal growth factor receptor gene DOID:9008114 Helicobacter Infections treatment ISO RGD:69152 D RGD:9068941 20200911 RGD associated with gastritis; PMID:25051417|REF_RGD_ID:38599160 11704382 EGFR epidermal growth factor receptor gene DOID:9008443 Colorectal Neoplasms ISO RGD:69152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:15118073|PMID:15118125|PMID:15329413|PMID:15604253|PMID:15625347|PMID:15710947|PMID:15741570|PMID:15998907|PMID:16011858|PMID:16105816|PMID:16115929|PMID:16166444|PMID:16187797|PMID:16199108|PMID:16204070|PMID:16467085|PMID:16533793|PMID:17192902|PMID:17285735|PMID:17473653|PMID:17904685|PMID:18176089|PMID:18325048|PMID:18334834|PMID:18948947|PMID:19536777|PMID:19844187|PMID:19922469|PMID:20479403|PMID:20559149|PMID:20808254|PMID:21057810|PMID:21317742|PMID:21527506|PMID:21592614|PMID:21841502|PMID:21899495|PMID:22019513|PMID:22270724|PMID:22753918|PMID:22809298|PMID:23102728|PMID:23468066|PMID:24033266|PMID:24039832|PMID:24894453|PMID:25061320|PMID:25157968|PMID:28286242|PMID:28492532|PMID:28838405|PMID:29100434|PMID:30405134|PMID:30588029|PMID:30610926|PMID:30796031 11704382 EGFR epidermal growth factor receptor gene DOID:9008731 Craniofacial Abnormalities ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10319864 11704382 EGFR epidermal growth factor receptor gene DOID:9008939 Breast Neoplasms ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16950593|PMID:18768436|PMID:19075277|PMID:20135347|PMID:20941507|PMID:23867902 11704382 EGFR epidermal growth factor receptor gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:10511 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, tumor (mouse) PMID:21107114|REF_RGD_ID:5037225 11704382 EGFR epidermal growth factor receptor gene DOID:9256 colorectal cancer ISO RGD:69152 D RGD:9068941 20200609 RGD PMID:15269313|REF_RGD_ID:5131632 11704382 EGFR epidermal growth factor receptor gene DOID:9256 colorectal cancer ISO RGD:69152 D RGD:9068941 20200609 RGD human tumor in mouse model PMID:21398618|REF_RGD_ID:5131455 11704382 EGFR epidermal growth factor receptor gene DOID:9256 colorectal cancer resistance ISO RGD:69152 D RGD:9068941 20200609 RGD mRNA, protein:increased expression (human) PMID:20010090|REF_RGD_ID:5131871 11704382 EGFR epidermal growth factor receptor gene DOID:9351 diabetes mellitus ISO RGD:69152 D RGD:9068941 20220527 RGD associated with lung squamous cell carcinoma; protein:increased expression:lung (human) PMID:27411924|REF_RGD_ID:152975631 11704382 EGFR epidermal growth factor receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22238402 11704382 EGFR epidermal growth factor receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:2543 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:liver (rat) PMID:2833110|REF_RGD_ID:5131531 11704382 EGFR epidermal growth factor receptor gene DOID:9970 obesity ISO RGD:10511 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:liver (mouse) PMID:3624263|REF_RGD_ID:5131534 11704413 TINF2 TERF1 interacting nuclear factor 2 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1354058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11704413 TINF2 TERF1 interacting nuclear factor 2 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 ISO RGD:1354058 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 PMID:18669893|PMID:20301779|PMID:21199492|PMID:22211879|PMID:25741868|PMID:28492532 11704413 TINF2 TERF1 interacting nuclear factor 2 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1354058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:18252230|PMID:18669893|PMID:19090550|PMID:20301779|PMID:21199492|PMID:21477109|PMID:21536674|PMID:22211879|PMID:23094712|PMID:25741868|PMID:26083318|PMID:26859482|PMID:28492532|PMID:29742735 11704413 TINF2 TERF1 interacting nuclear factor 2 gene DOID:0070018 autosomal dominant dyskeratosis congenita 3 ISO RGD:1354058 D RGD:7240710 20180130 OMIM 11704413 TINF2 TERF1 interacting nuclear factor 2 gene DOID:0070018 autosomal dominant dyskeratosis congenita 3 ISO RGD:1354058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 3 PMID:17576681|PMID:18252230|PMID:18669893|PMID:18979121|PMID:19090550|PMID:19327580|PMID:20301779|PMID:20979174|PMID:21199492|PMID:21477109|PMID:21536674|PMID:22080964|PMID:22211879|PMID:22339828|PMID:22341970|PMID:23094712|PMID:25741868|PMID:26193622|PMID:26230315|PMID:26808569|PMID:26859482|PMID:27824607|PMID:28102861|PMID:28104920|PMID:28492532|PMID:28643950|PMID:28866069|PMID:29483670|PMID:29581185|PMID:29742735|PMID:30604317|PMID:9536098 11704413 TINF2 TERF1 interacting nuclear factor 2 gene DOID:0070026 Revesz syndrome ISO RGD:1354058 D RGD:7240710 20180130 OMIM 11704413 TINF2 TERF1 interacting nuclear factor 2 gene DOID:0070026 Revesz syndrome ISO RGD:1354058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Revesz syndrome PMID:17576681|PMID:18252230|PMID:18669893|PMID:18979121|PMID:19090550|PMID:19327580|PMID:20301779|PMID:20979174|PMID:21199492|PMID:21477109|PMID:21536674|PMID:22080964|PMID:22211879|PMID:22339828|PMID:22341970|PMID:23094712|PMID:25741868|PMID:26193622|PMID:26230315|PMID:26808569|PMID:26859482|PMID:27824607|PMID:28102861|PMID:28104920|PMID:28492532|PMID:28643950|PMID:28866069|PMID:29483670|PMID:29581185|PMID:29742735|PMID:30604317|PMID:9536098 11704413 TINF2 TERF1 interacting nuclear factor 2 gene DOID:12449 aplastic anemia ISO RGD:1354058 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Aplastic anemia PMID:20301779 11704413 TINF2 TERF1 interacting nuclear factor 2 gene DOID:1612 breast cancer ISO RGD:1354058 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:18669893|PMID:20301779|PMID:25741868|PMID:28492532 11704413 TINF2 TERF1 interacting nuclear factor 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1354058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:16199547|PMID:17576681|PMID:18252230|PMID:18669893|PMID:18979121|PMID:19090550|PMID:19327580|PMID:20301779|PMID:20979174|PMID:21199492|PMID:21477109|PMID:21536674|PMID:22080964|PMID:22211879|PMID:22339828|PMID:22341970|PMID:23094712|PMID:25741868|PMID:26083318|PMID:26193622|PMID:26230315|PMID:26808569|PMID:26859482|PMID:27824607|PMID:28102861|PMID:28104920|PMID:28492532|PMID:28643950|PMID:28866069|PMID:29146883|PMID:29483670|PMID:29581185|PMID:29742735|PMID:30604317|PMID:32499645|PMID:9536098 11704413 TINF2 TERF1 interacting nuclear factor 2 gene DOID:2786 cerebellar disease ISO RGD:1354058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18252230 11704413 TINF2 TERF1 interacting nuclear factor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1354058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis 11704413 TINF2 TERF1 interacting nuclear factor 2 gene DOID:4123 nail disease ISO RGD:1354058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18252230 11704413 TINF2 TERF1 interacting nuclear factor 2 gene DOID:4961 bone marrow disease ISO RGD:1354058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18252230 11704413 TINF2 TERF1 interacting nuclear factor 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1354058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:16199547|PMID:25741868|PMID:28492532|PMID:32499645 11704413 TINF2 TERF1 interacting nuclear factor 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1354058 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11704413 TINF2 TERF1 interacting nuclear factor 2 gene DOID:9000981 Autosomal Dominant Dyskeratosis Congenita ISO RGD:1354058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11704413 TINF2 TERF1 interacting nuclear factor 2 gene DOID:9001272 Hoyeraal Hreidarsson Syndrome ISO RGD:1354058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome PMID:25741868|PMID:28492532 11704413 TINF2 TERF1 interacting nuclear factor 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1354058 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11704413 TINF2 TERF1 interacting nuclear factor 2 gene DOID:9006257 Growth Disorders ISO RGD:1354058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18252230 11704426 HMGXB3 HMG-box containing 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:2302190 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11704426 HMGXB3 HMG-box containing 3 gene DOID:630 genetic disease ISO RGD:2302190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11704426 HMGXB3 HMG-box containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2302190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11704426 HMGXB3 HMG-box containing 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:2302190 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11704482 SLC25A1 solute carrier family 25 member 1 gene DOID:0050573 2-hydroxyglutaric aciduria ISO RGD:1343333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 2-hydroxyglutaric aciduria PMID:23393310|PMID:23561848|PMID:25741868|PMID:28492532|PMID:29238895|PMID:9031613 11704482 SLC25A1 solute carrier family 25 member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1343333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11704482 SLC25A1 solute carrier family 25 member 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1343333 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 11704482 SLC25A1 solute carrier family 25 member 1 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1343333 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 11704482 SLC25A1 solute carrier family 25 member 1 gene DOID:0111619 combined D-2- and L-2-hydroxyglutaric aciduria ISO RGD:1343333 D RGD:7240710 20200205 OMIM 11704482 SLC25A1 solute carrier family 25 member 1 gene DOID:0111619 combined D-2- and L-2-hydroxyglutaric aciduria ISO RGD:1343333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: D,L-2-hydroxyglutaric aciduria PMID:23393310|PMID:23561848|PMID:25741868|PMID:28492532|PMID:29031613|PMID:29238895|PMID:9031613 11704482 SLC25A1 solute carrier family 25 member 1 gene DOID:0111996 immunodeficiency 51 ISO RGD:1343333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11704482 SLC25A1 solute carrier family 25 member 1 gene DOID:1059 intellectual disability ISO RGD:1343333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11704482 SLC25A1 solute carrier family 25 member 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1343333 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 11704482 SLC25A1 solute carrier family 25 member 1 gene DOID:11372 megacolon ISO RGD:1343333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11704482 SLC25A1 solute carrier family 25 member 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:1343333 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 11704482 SLC25A1 solute carrier family 25 member 1 gene DOID:12849 autistic disorder ISO RGD:1343333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11704482 SLC25A1 solute carrier family 25 member 1 gene DOID:1826 epilepsy ISO RGD:1343333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11704482 SLC25A1 solute carrier family 25 member 1 gene DOID:5419 schizophrenia ISO RGD:1343333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11704482 SLC25A1 solute carrier family 25 member 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1343333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11704482 SLC25A1 solute carrier family 25 member 1 gene DOID:630 genetic disease ISO RGD:1343333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 11704482 SLC25A1 solute carrier family 25 member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11704482 SLC25A1 solute carrier family 25 member 1 gene DOID:9007661 Dwarfism ISO RGD:1343333 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11704482 SLC25A1 solute carrier family 25 member 1 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1343333 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11704482 SLC25A1 solute carrier family 25 member 1 gene DOID:9009245 Congenital Myasthenic Syndrome 23 ISO RGD:1343333 D RGD:7240710 20190315 OMIM 11704482 SLC25A1 solute carrier family 25 member 1 gene DOID:9009245 Congenital Myasthenic Syndrome 23 ISO RGD:1343333 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 23, presynaptic PMID:25741868|PMID:26870663|PMID:31527857|PMID:31808147 11704505 GP2 glycoprotein 2 gene DOID:630 genetic disease ISO RGD:737446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11704505 GP2 glycoprotein 2 gene DOID:9007633 Body Weight ISO RGD:737446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344219 11704505 GP2 glycoprotein 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 11704541 HOXC4 homeobox C4 gene DOID:10485 esophageal atresia ISO RGD:1558279 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (mouse) PMID:17211587|REF_RGD_ID:10402180 11704541 HOXC4 homeobox C4 gene DOID:630 genetic disease ISO RGD:1351931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11704541 HOXC4 homeobox C4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11704552 FCER1G Fc epsilon receptor Ig gene DOID:0060500 drug allergy ISO RGD:736226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18534082|PMID:18595682 11704552 FCER1G Fc epsilon receptor Ig gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:736226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11704552 FCER1G Fc epsilon receptor Ig gene DOID:1540 parathyroid carcinoma ISO RGD:736226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11704552 FCER1G Fc epsilon receptor Ig gene DOID:630 genetic disease ISO RGD:736226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11704552 FCER1G Fc epsilon receptor Ig gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:736226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18595682 11704552 FCER1G Fc epsilon receptor Ig gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11704552 FCER1G Fc epsilon receptor Ig gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11704561 CAAP1 caspase activity and apoptosis inhibitor 1 gene DOID:630 genetic disease ISO RGD:1344567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11704577 MYOD1 myogenic differentiation 1 gene DOID:0111217 autosomal dominant centronuclear myopathy ISO RGD:1353183 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:31260566 11704577 MYOD1 myogenic differentiation 1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1353183 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 11704577 MYOD1 myogenic differentiation 1 gene DOID:1059 intellectual disability ISO RGD:1353183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11704577 MYOD1 myogenic differentiation 1 gene DOID:10763 hypertension ISO RGD:631429 D RGD:9068941 20200609 RGD mRNA:decreased expression:gastrocnemius PMID:22076133|REF_RGD_ID:9686076 11704577 MYOD1 myogenic differentiation 1 gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:1353183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24793135 11704577 MYOD1 myogenic differentiation 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1353183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258934 11704577 MYOD1 myogenic differentiation 1 gene DOID:422 congenital structural myopathy ISO RGD:1353183 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:31260566 11704577 MYOD1 myogenic differentiation 1 gene DOID:6000 congestive heart failure treatment ISO RGD:631429 D RGD:9068941 20200609 RGD associated with Aortic Valve Stenosis PMID:20060348|REF_RGD_ID:9686081 11704577 MYOD1 myogenic differentiation 1 gene DOID:630 genetic disease ISO RGD:1353183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11704577 MYOD1 myogenic differentiation 1 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:1353183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258934 11704577 MYOD1 myogenic differentiation 1 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:631429 D RGD:9068941 20200609 RGD PMID:23781298|REF_RGD_ID:9686078 11704577 MYOD1 myogenic differentiation 1 gene DOID:9008444 Skeletal Muscle Injuries treatment ISO RGD:631429 D RGD:9068941 20200609 RGD PMID:19754672|REF_RGD_ID:9686075 11704577 MYOD1 myogenic differentiation 1 gene DOID:9009026 Congenital Myopathy 17 ISO RGD:1353183 D RGD:7240710 20201216 OMIM 11704577 MYOD1 myogenic differentiation 1 gene DOID:9009026 Congenital Myopathy 17 ISO RGD:1353183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies PMID:25741868|PMID:26733463|PMID:30403323|PMID:31260566 11704577 MYOD1 myogenic differentiation 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:631429 D RGD:9068941 20200609 RGD mRNA:decreased expression:diaphragm PMID:21258934|REF_RGD_ID:9686080 11704577 MYOD1 myogenic differentiation 1 gene DOID:9970 obesity ISO RGD:631429 D RGD:9068941 20200609 RGD PMID:22349736|REF_RGD_ID:9686079 11704577 MYOD1 myogenic differentiation 1 gene DOID:9970 obesity ISO RGD:631429 D RGD:9068941 20200609 RGD mRNA:decreased expression:plantaris PMID:18508911|REF_RGD_ID:2313320 11704604 HAUS5 HAUS augmin like complex subunit 5 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1317198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11704604 HAUS5 HAUS augmin like complex subunit 5 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1317198 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11704604 HAUS5 HAUS augmin like complex subunit 5 gene DOID:543 dystonia ISO RGD:1317198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11704604 HAUS5 HAUS augmin like complex subunit 5 gene DOID:630 genetic disease ISO RGD:1317198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11704628 NANOS2 nanos C2HC-type zinc finger 2 gene DOID:12336 male infertility ISO RGD:1354099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22190708 11704628 NANOS2 nanos C2HC-type zinc finger 2 gene DOID:630 genetic disease ISO RGD:1354099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11704633 GDF5 growth differentiation factor 5 gene DOID:0050581 brachydactyly ISO RGD:1345266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:17384641|PMID:25741868|PMID:28492532 11704633 GDF5 growth differentiation factor 5 gene DOID:0050790 fibular hypoplasia and complex brachydactyly ISO RGD:1345266 D RGD:7240710 20180130 OMIM 11704633 GDF5 growth differentiation factor 5 gene DOID:0050790 fibular hypoplasia and complex brachydactyly ISO RGD:1345266 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 2B PMID:12121354|PMID:16014698|PMID:16127465|PMID:17384641|PMID:18629880|PMID:25741868|PMID:28492532 11704633 GDF5 growth differentiation factor 5 gene DOID:0050794 multiple synostoses syndrome ISO RGD:1622400 D RGD:9068941 20220825 MouseDO OMIM:186500 | OMIM:610017 | OMIM:612961 11704633 GDF5 growth differentiation factor 5 gene DOID:0080049 acromesomelic dysplasia ISO RGD:1345266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 11704633 GDF5 growth differentiation factor 5 gene DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type ISO RGD:1345266 D RGD:7240710 20180130 OMIM 11704633 GDF5 growth differentiation factor 5 gene DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type ISO RGD:1345266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type PMID:17384641|PMID:25741868|PMID:2703235|PMID:28492532|PMID:8589725|PMID:964999 11704633 GDF5 growth differentiation factor 5 gene DOID:0080052 acromesomelic dysplasia, Grebe type ISO RGD:1345266 D RGD:7240710 20180130 OMIM 11704633 GDF5 growth differentiation factor 5 gene DOID:0080052 acromesomelic dysplasia, Grebe type ISO RGD:1345266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Grebe syndrome PMID:12124730|PMID:12900894|PMID:17384641|PMID:25741868|PMID:28492532|PMID:9288098 11704633 GDF5 growth differentiation factor 5 gene DOID:0080788 proximal symphalangism 2 ISO RGD:1345266 D RGD:7240710 20201021 OMIM 11704633 GDF5 growth differentiation factor 5 gene DOID:0080788 proximal symphalangism 2 ISO RGD:1345266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symphalangism, proximal, 1B PMID:12121354|PMID:16014698|PMID:16127465|PMID:16532400|PMID:16892395|PMID:18283415 11704633 GDF5 growth differentiation factor 5 gene DOID:0081317 multiple synostoses syndrome 1 ISO RGD:1345266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome 11704633 GDF5 growth differentiation factor 5 gene DOID:0081318 multiple synostoses syndrome 2 ISO RGD:1345266 D RGD:7240710 20180130 OMIM 11704633 GDF5 growth differentiation factor 5 gene DOID:0081318 multiple synostoses syndrome 2 ISO RGD:1345266 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple synostoses syndrome 2 PMID:16127465|PMID:16532400|PMID:17384641|PMID:25741868|PMID:28492532|PMID:9024575|PMID:9288091 11704633 GDF5 growth differentiation factor 5 gene DOID:0110964 brachydactyly type A1 ISO RGD:1345266 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:c.1195C>T(human) PMID:20683927|REF_RGD_ID:12437076 11704633 GDF5 growth differentiation factor 5 gene DOID:0110965 brachydactyly type A2 ISO RGD:1345266 D RGD:7240710 20180130 OMIM 11704633 GDF5 growth differentiation factor 5 gene DOID:0110965 brachydactyly type A2 ISO RGD:1345266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly type A2 PMID:12121354|PMID:12357473|PMID:16014698|PMID:16127465|PMID:18203755|PMID:25741868|PMID:27577507|PMID:28492532|PMID:8589725|PMID:9288091 11704633 GDF5 growth differentiation factor 5 gene DOID:0110970 brachydactyly type C ISO RGD:1345266 D RGD:7240710 20180130 OMIM 11704633 GDF5 growth differentiation factor 5 gene DOID:0110970 brachydactyly type C ISO RGD:1345266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly type C PMID:12357473|PMID:12567410|PMID:13953230|PMID:14735582|PMID:16957682|PMID:18283415|PMID:25741868|PMID:9024575|PMID:9288091 11704633 GDF5 growth differentiation factor 5 gene DOID:0110977 brachydactyly type A1C ISO RGD:1345266 D RGD:7240710 20180130 OMIM 11704633 GDF5 growth differentiation factor 5 gene DOID:0110977 brachydactyly type A1C ISO RGD:1345266 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brachydactyly type A1C PMID:20683927|PMID:25741868|PMID:9288098 11704633 GDF5 growth differentiation factor 5 gene DOID:11193 syndactyly ISO RGD:1622400 D RGD:9068941 20200609 RGD DNA:insertion:cds: PMID:18984342|REF_RGD_ID:12738203 11704633 GDF5 growth differentiation factor 5 gene DOID:14330 Parkinson's disease ISO RGD:620102 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum: PMID:24373993|REF_RGD_ID:12738228 11704633 GDF5 growth differentiation factor 5 gene DOID:14330 Parkinson's disease treatment ISO RGD:1345266 D RGD:9068941 20200609 RGD PMID:22436046|REF_RGD_ID:12738227 11704633 GDF5 growth differentiation factor 5 gene DOID:2256 osteochondrodysplasia ISO RGD:1345266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chondrodysplasia 11704633 GDF5 growth differentiation factor 5 gene DOID:630 genetic disease ISO RGD:1345266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11704633 GDF5 growth differentiation factor 5 gene DOID:7148 rheumatoid arthritis ISO RGD:1345266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18830904 11704633 GDF5 growth differentiation factor 5 gene DOID:8398 osteoarthritis ISO RGD:1345266 D RGD:7240710 20180130 OMIM 11704633 GDF5 growth differentiation factor 5 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1345266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 11704633 GDF5 growth differentiation factor 5 gene DOID:9004340 Developmental Dysplasia of the Hip 1 ISO RGD:1345266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18947434 11704633 GDF5 growth differentiation factor 5 gene DOID:9004340 Developmental Dysplasia of the Hip 1 susceptibility ISO RGD:1345266 D RGD:9068941 20200609 RGD DNA:SNP::rs143383(human) PMID:18947434|REF_RGD_ID:12738201 11704633 GDF5 growth differentiation factor 5 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1345266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteoarthritis, hip PMID:17384641|PMID:28492532 11704633 GDF5 growth differentiation factor 5 gene DOID:9008331 Tendon Injuries treatment ISO RGD:1345266 D RGD:9068941 20200609 RGD PMID:17507245|REF_RGD_ID:12738226 11704633 GDF5 growth differentiation factor 5 gene DOID:9008331 Tendon Injuries treatment ISO RGD:1622400 D RGD:9068941 20200609 RGD PMID:16419971|REF_RGD_ID:12738229 11704633 GDF5 growth differentiation factor 5 gene DOID:9008763 Femoral Fractures treatment ISO RGD:1345266 D RGD:9068941 20200609 RGD PMID:25543012|REF_RGD_ID:12738204 11704641 ADAP2 ArfGAP with dual PH domains 2 gene DOID:0080600 COVID-19 ISO RGD:734306 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11704641 ADAP2 ArfGAP with dual PH domains 2 gene DOID:0111253 neurofibromatosis 1 ISO RGD:734306 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 11704641 ADAP2 ArfGAP with dual PH domains 2 gene DOID:1969 cerebral palsy ISO RGD:734306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 11704641 ADAP2 ArfGAP with dual PH domains 2 gene DOID:630 genetic disease ISO RGD:734306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11704641 ADAP2 ArfGAP with dual PH domains 2 gene DOID:9008086 Developmental Disabilities ISO RGD:734306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 11704657 PRAF2 PRA1 domain family member 2 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1350856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early onset epileptic encephalopathy PMID:26173968 11704657 PRAF2 PRA1 domain family member 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11704657 PRAF2 PRA1 domain family member 2 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1350856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 11704657 PRAF2 PRA1 domain family member 2 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1350856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11704657 PRAF2 PRA1 domain family member 2 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1350856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11704657 PRAF2 PRA1 domain family member 2 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1350856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11704657 PRAF2 PRA1 domain family member 2 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1350856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 11704657 PRAF2 PRA1 domain family member 2 gene DOID:12849 autistic disorder ISO RGD:1350856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11704657 PRAF2 PRA1 domain family member 2 gene DOID:630 genetic disease ISO RGD:1350856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11704657 PRAF2 PRA1 domain family member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350856 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11704672 LOC100988821 olfactory receptor 5AU1 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1343321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 11704672 LOC100988821 olfactory receptor 5AU1 gene DOID:630 genetic disease ISO RGD:1343321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11704672 LOC100988821 olfactory receptor 5AU1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343321 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11704682 FAM83B family with sequence similarity 83 member B gene DOID:630 genetic disease ISO RGD:1323733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11704690 DNAAF11 dynein axonemal assembly factor 11 gene DOID:0050144 Kartagener syndrome ISO RGD:1351490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:23122589|PMID:23891469|PMID:24307375|PMID:26139845|PMID:28492532 11704690 DNAAF11 dynein axonemal assembly factor 11 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1351490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:28492532 11704690 DNAAF11 dynein axonemal assembly factor 11 gene DOID:0050545 visceral heterotaxy ISO RGD:1351490 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Situs ambiguus PMID:20301301|PMID:23122589|PMID:23527195|PMID:23891469|PMID:25741868|PMID:28492532 11704690 DNAAF11 dynein axonemal assembly factor 11 gene DOID:0110608 primary ciliary dyskinesia 19 ISO RGD:1351490 D RGD:7240710 20180130 OMIM 11704690 DNAAF11 dynein axonemal assembly factor 11 gene DOID:0110608 primary ciliary dyskinesia 19 ISO RGD:1351490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 19 PMID:16199547|PMID:17576681|PMID:20301301|PMID:23122589|PMID:23527195|PMID:23891469|PMID:24033266|PMID:24307375|PMID:25741868|PMID:26139845|PMID:27637300|PMID:28492532|PMID:30300419|PMID:31650533|PMID:9536098 11704690 DNAAF11 dynein axonemal assembly factor 11 gene DOID:14264 benign neonatal seizures ISO RGD:1351490 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:28492532|PMID:29383681|PMID:29852413 11704690 DNAAF11 dynein axonemal assembly factor 11 gene DOID:2377 multiple sclerosis ISO RGD:1351490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to PMID:25741868|PMID:28492532 11704690 DNAAF11 dynein axonemal assembly factor 11 gene DOID:5223 infertility ISO RGD:1351490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infertility PMID:28492532|PMID:30300419 11704690 DNAAF11 dynein axonemal assembly factor 11 gene DOID:630 genetic disease ISO RGD:1351490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23122589|PMID:23891469|PMID:24307375|PMID:26139845|PMID:28492532 11704690 DNAAF11 dynein axonemal assembly factor 11 gene DOID:758 situs inversus ISO RGD:1351490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence PMID:20301301|PMID:23122589|PMID:23527195|PMID:23891469|PMID:25741868|PMID:28492532 11704690 DNAAF11 dynein axonemal assembly factor 11 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:20301301|PMID:23122589|PMID:23527195|PMID:23891469|PMID:24033266|PMID:24307375|PMID:25741868|PMID:26139845|PMID:27637300|PMID:28492532 11704713 BORCS8 BLOC-1 related complex subunit 8 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:5131351 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 11704713 BORCS8 BLOC-1 related complex subunit 8 gene DOID:630 genetic disease ISO RGD:5131351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11704713 BORCS8 BLOC-1 related complex subunit 8 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:5131351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11704728 USP32 ubiquitin specific peptidase 32 gene DOID:0050777 Joubert syndrome ISO RGD:1315395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11704728 USP32 ubiquitin specific peptidase 32 gene DOID:11372 megacolon ISO RGD:1315395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11704728 USP32 ubiquitin specific peptidase 32 gene DOID:4001 ovarian carcinoma ISO RGD:1315395 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 11704728 USP32 ubiquitin specific peptidase 32 gene DOID:630 genetic disease ISO RGD:1315395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11704745 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:731644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19223503 11704745 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:0050777 Joubert syndrome ISO RGD:731644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11704745 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:731644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 11704745 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:10763 hypertension ISO RGD:731644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19289642 11704745 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:12236 primary biliary cholangitis ISO RGD:620683 D RGD:9068941 20200609 RGD protein:increased expression, increased phosphorylation:liver PMID:15769867|REF_RGD_ID:1642977 11704745 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:12930 dilated cardiomyopathy ISO RGD:620683 D RGD:9068941 20200609 RGD protein:increased activity:heart PMID:16043946|REF_RGD_ID:1643022 11704745 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:2018 hyperinsulinism ISO RGD:620683 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver, skeletal muscle PMID:15692808|REF_RGD_ID:1643026 11704745 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:219 colon cancer treatment ISO RGD:620683 D RGD:9068941 20210611 RGD PMID:33360052|REF_RGD_ID:127229954 11704745 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:5844 myocardial infarction ISO RGD:620683 D RGD:9068941 20200609 RGD protein:increased threonine phosphorylation:heart left ventricle PMID:16540832|REF_RGD_ID:1642998 11704745 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:630 genetic disease ISO RGD:731644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11704745 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:767 muscular atrophy ISO RGD:620683 D RGD:9068941 20200609 RGD protein:decreased expression, decreased phosphorylation:soleus PMID:17885021|REF_RGD_ID:1642984 11704745 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:620683 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:kidney PMID:16221708|REF_RGD_ID:1643017 11704745 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:9002513 Hypoproteinemia ISO RGD:620683 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis, Experimental PMID:16169275|REF_RGD_ID:1643028 11704745 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:9003936 Cardiomegaly ISO RGD:620683 D RGD:9068941 20200609 RGD protein:increased threonine phosphorylation:heart left ventricle PMID:16540832|REF_RGD_ID:1642998 11704745 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:9004462 Atrophy ISO RGD:731644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16391472 11704745 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:731644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19289642 11704745 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:9007730 Burns ISO RGD:620683 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:heart PMID:14695116|REF_RGD_ID:1643025 11704745 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:9970 obesity ISO RGD:620683 D RGD:9068941 20200609 RGD protein:increased phosphorylation:skeletal muscle PMID:15604215|REF_RGD_ID:1642978 11704769 ZFP14 ZFP14 zinc finger protein gene DOID:630 genetic disease ISO RGD:1605971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11704826 BNC1 basonuclin 1 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1319162 D RGD:7240710 20200101 OMIM 11704826 BNC1 basonuclin 1 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1319162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 16 PMID:10909|PMID:25741868 11704826 BNC1 basonuclin 1 gene DOID:13938 amenorrhea ISO RGD:1319162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11704826 BNC1 basonuclin 1 gene DOID:2717 Bloom syndrome ISO RGD:1319162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11704826 BNC1 basonuclin 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1319162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11704826 BNC1 basonuclin 1 gene DOID:630 genetic disease ISO RGD:1319162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11704826 BNC1 basonuclin 1 gene DOID:9256 colorectal cancer ISO RGD:1319162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11704848 C22H22orf23 chromosome 22 C22orf23 homolog gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1351784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11704848 C22H22orf23 chromosome 22 C22orf23 homolog gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1351784 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11704848 C22H22orf23 chromosome 22 C22orf23 homolog gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1351784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11704848 C22H22orf23 chromosome 22 C22orf23 homolog gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1351784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11704848 C22H22orf23 chromosome 22 C22orf23 homolog gene DOID:630 genetic disease ISO RGD:1351784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11704857 ANKRD46 ankyrin repeat domain 46 gene DOID:0111590 Cohen syndrome ISO RGD:1606443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 11704857 ANKRD46 ankyrin repeat domain 46 gene DOID:630 genetic disease ISO RGD:1606443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11704874 PWWP2A PWWP domain containing 2A gene DOID:630 genetic disease ISO RGD:1642916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11704883 INTS2 integrator complex subunit 2 gene DOID:11372 megacolon ISO RGD:1606257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11704883 INTS2 integrator complex subunit 2 gene DOID:630 genetic disease ISO RGD:1606257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11704915 SLCO6A1 solute carrier organic anion transporter family member 6A1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353358 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11704915 SLCO6A1 solute carrier organic anion transporter family member 6A1 gene DOID:630 genetic disease ISO RGD:1353358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11704915 SLCO6A1 solute carrier organic anion transporter family member 6A1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11704915 SLCO6A1 solute carrier organic anion transporter family member 6A1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353358 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11704941 TIMM50 translocase of inner mitochondrial membrane 50 gene DOID:0070002 3-methylglutaconic aciduria type 9 ISO RGD:1606193 D RGD:7240710 20190315 OMIM 11704941 TIMM50 translocase of inner mitochondrial membrane 50 gene DOID:0070002 3-methylglutaconic aciduria type 9 ISO RGD:1606193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 9 PMID:25741868|PMID:27573165|PMID:28492532|PMID:30190335|PMID:31058414|PMID:32369862 11704941 TIMM50 translocase of inner mitochondrial membrane 50 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1606193 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11704941 TIMM50 translocase of inner mitochondrial membrane 50 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1606193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11704941 TIMM50 translocase of inner mitochondrial membrane 50 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1606193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11704941 TIMM50 translocase of inner mitochondrial membrane 50 gene DOID:2340 craniosynostosis ISO RGD:1606193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11704941 TIMM50 translocase of inner mitochondrial membrane 50 gene DOID:630 genetic disease ISO RGD:1606193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:30765764|PMID:31058414|PMID:9536098 11704941 TIMM50 translocase of inner mitochondrial membrane 50 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1606193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11704941 TIMM50 translocase of inner mitochondrial membrane 50 gene DOID:9007385 Mitochondrial Encephalopathy ISO RGD:1606193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial encephalopathy PMID:25741868|PMID:30190335 11704941 TIMM50 translocase of inner mitochondrial membrane 50 gene DOID:9269 maple syrup urine disease ISO RGD:1606193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11704941 TIMM50 translocase of inner mitochondrial membrane 50 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1606193 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11704956 DCAF17 DDB1 and CUL4 associated factor 17 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1605035 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11704956 DCAF17 DDB1 and CUL4 associated factor 17 gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1605035 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 11704956 DCAF17 DDB1 and CUL4 associated factor 17 gene DOID:0112264 Woodhouse-Sakati syndrome ISO RGD:1605035 D RGD:7240710 20180130 OMIM 11704956 DCAF17 DDB1 and CUL4 associated factor 17 gene DOID:0112264 Woodhouse-Sakati syndrome ISO RGD:1605035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Woodhouse-Sakati syndrome PMID:16199547|PMID:17576681|PMID:17710875|PMID:18049083|PMID:18175354|PMID:18414213|PMID:19026396|PMID:20507343|PMID:21044051|PMID:21964978|PMID:24015686|PMID:24088041|PMID:25326637|PMID:25741868|PMID:26612766|PMID:26633545|PMID:26664771|PMID:27489925|PMID:28492532|PMID:29546359|PMID:31347785|PMID:35876063|PMID:6876115|PMID:9536098 11704956 DCAF17 DDB1 and CUL4 associated factor 17 gene DOID:630 genetic disease ISO RGD:1605035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11704981 HIBADH 3-hydroxyisobutyrate dehydrogenase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11704981 HIBADH 3-hydroxyisobutyrate dehydrogenase gene DOID:630 genetic disease ISO RGD:732658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11705006 TOR4A torsin family 4 member A gene DOID:0050777 Joubert syndrome ISO RGD:1606545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11705006 TOR4A torsin family 4 member A gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1606545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 11705006 TOR4A torsin family 4 member A gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1606545 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 11705006 TOR4A torsin family 4 member A gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1606545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11705006 TOR4A torsin family 4 member A gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1606545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:19264732|PMID:27891178|PMID:28492532 11705006 TOR4A torsin family 4 member A gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1606545 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11705006 TOR4A torsin family 4 member A gene DOID:0081097 Rafiq syndrome ISO RGD:1606545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11705006 TOR4A torsin family 4 member A gene DOID:1826 epilepsy ISO RGD:1606545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11705006 TOR4A torsin family 4 member A gene DOID:630 genetic disease ISO RGD:1606545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11705006 TOR4A torsin family 4 member A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11705006 TOR4A torsin family 4 member A gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1606545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11705011 NUDT18 nudix hydrolase 18 gene DOID:630 genetic disease ISO RGD:1605623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11705011 NUDT18 nudix hydrolase 18 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1605623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 11705017 IFT80 intraflagellar transport 80 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1606252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome PMID:16199547|PMID:16385454|PMID:17468754|PMID:17576681|PMID:19610081|PMID:19648123|PMID:19763152|PMID:20307669|PMID:21227999|PMID:22406018|PMID:23339108|PMID:25741868|PMID:28492532|PMID:29068549|PMID:29658880|PMID:29923190|PMID:30266093|PMID:30767363|PMID:9536098 11705017 IFT80 intraflagellar transport 80 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1606252 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:11727201|PMID:12673792|PMID:16199547|PMID:17468754|PMID:17576681|PMID:19610081|PMID:19648123|PMID:19763152|PMID:20301601|PMID:20307669|PMID:21227999|PMID:22406018|PMID:23339108|PMID:25741868|PMID:28492532|PMID:29068549|PMID:29658880|PMID:30266093|PMID:30767363|PMID:33957996|PMID:9536098 11705017 IFT80 intraflagellar transport 80 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1606252 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:16199547|PMID:17468754|PMID:17576681|PMID:19610081|PMID:19648123|PMID:19763152|PMID:20307669|PMID:21227999|PMID:22406018|PMID:23339108|PMID:25741868|PMID:28492532|PMID:29068549|PMID:29658880|PMID:29923190|PMID:30266093|PMID:30767363|PMID:33957996|PMID:9536098 11705017 IFT80 intraflagellar transport 80 gene DOID:0060118 thoracic disease ISO RGD:1606252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17468754 11705017 IFT80 intraflagellar transport 80 gene DOID:0080006 bone development disease ISO RGD:1606252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17468754 11705017 IFT80 intraflagellar transport 80 gene DOID:0110086 asphyxiating thoracic dystrophy 2 ISO RGD:1606252 D RGD:7240710 20180130 OMIM 11705017 IFT80 intraflagellar transport 80 gene DOID:0110086 asphyxiating thoracic dystrophy 2 ISO RGD:1606252 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 PMID:16199547|PMID:17468754|PMID:17576681|PMID:19610081|PMID:19648123|PMID:21227999|PMID:23339108|PMID:25741868|PMID:28492532|PMID:29068549|PMID:30266093|PMID:30767363|PMID:9536098 11705017 IFT80 intraflagellar transport 80 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1550300 D RGD:9068941 20220825 MouseDO OMIM:613091 11705017 IFT80 intraflagellar transport 80 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1606252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:19648123|PMID:28492532|PMID:29068549|PMID:30266093 11705017 IFT80 intraflagellar transport 80 gene DOID:11162 respiratory failure ISO RGD:1606252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17468754 11705017 IFT80 intraflagellar transport 80 gene DOID:1148 polydactyly ISO RGD:1606252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17468754 11705017 IFT80 intraflagellar transport 80 gene DOID:2975 cystic kidney disease ISO RGD:1606252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17468754 11705017 IFT80 intraflagellar transport 80 gene DOID:630 genetic disease ISO RGD:1606252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11705017 IFT80 intraflagellar transport 80 gene DOID:65 connective tissue disease ISO RGD:1606252 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 11705017 IFT80 intraflagellar transport 80 gene DOID:8466 retinal degeneration ISO RGD:1606252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17468754 11705017 IFT80 intraflagellar transport 80 gene DOID:9001041 Asphyxia ISO RGD:1606252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17468754 11705017 IFT80 intraflagellar transport 80 gene DOID:9249 Beemer-Langer syndrome ISO RGD:1606252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome PMID:28492532|PMID:29068549 11705046 NLK nemo like kinase gene DOID:5844 myocardial infarction ISO RGD:1561602 D RGD:9068941 20230330 RGD mRNA, protein:decreased expression:heart PMID:26861724|REF_RGD_ID:242905213 11705046 NLK nemo like kinase gene DOID:630 genetic disease ISO RGD:1321854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11705046 NLK nemo like kinase gene DOID:9000039 Spinal Cord Injuries ISO RGD:1561602 D RGD:9068941 20200609 RGD protein:increased expression:grey matter: PMID:24395089|REF_RGD_ID:12791278 11705046 NLK nemo like kinase gene DOID:9000438 Subarachnoid Hemorrhage disease_progression ISO RGD:1561602 D RGD:9068941 20200609 RGD PMID:23325309|REF_RGD_ID:12791279 11705064 EDEM2 ER degradation enhancing alpha-mannosidase like protein 2 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:1354312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young 11705064 EDEM2 ER degradation enhancing alpha-mannosidase like protein 2 gene DOID:2843 long QT syndrome ISO RGD:1354312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11705064 EDEM2 ER degradation enhancing alpha-mannosidase like protein 2 gene DOID:5419 schizophrenia ISO RGD:1354312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 11705064 EDEM2 ER degradation enhancing alpha-mannosidase like protein 2 gene DOID:630 genetic disease ISO RGD:1354312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11705080 TNFAIP8L3 TNF alpha induced protein 8 like 3 gene DOID:2717 Bloom syndrome ISO RGD:1604925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11705080 TNFAIP8L3 TNF alpha induced protein 8 like 3 gene DOID:607 paraplegia ISO RGD:1604925 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 11705080 TNFAIP8L3 TNF alpha induced protein 8 like 3 gene DOID:630 genetic disease ISO RGD:1604925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11705080 TNFAIP8L3 TNF alpha induced protein 8 like 3 gene DOID:9256 colorectal cancer ISO RGD:1604925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11705086 PIM2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11705086 PIM2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1347613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 11705086 PIM2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1347613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11705086 PIM2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1347613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11705086 PIM2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1347613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11705086 PIM2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1347613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 11705086 PIM2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:12849 autistic disorder ISO RGD:1347613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11705086 PIM2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:630 genetic disease ISO RGD:1347613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11705086 PIM2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:9119 acute myeloid leukemia ISO RGD:1347613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19458359 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:0050553 JMP syndrome ISO RGD:619564 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:0050700 cardiomyopathy ISO RGD:619564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10620750 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:0080199 colorectal carcinoma ameliorates ISO RGD:619564 D RGD:9068941 20220331 RGD human cell line in a mouse model PMID:25548290|PMID:27286263|REF_RGD_ID:151665507|REF_RGD_ID:151665508 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:0080199 colorectal carcinoma treatment ISO RGD:619564 D RGD:9068941 20220324 RGD PMID:23624232|REF_RGD_ID:151665352 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:10652 Alzheimer's disease ISO RGD:70496 D RGD:9068941 20200609 RGD mRNA:increased expression:frontal lobe cortex, hippocampus CA2 (rat) PMID:20529587|REF_RGD_ID:10047076 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:10652 Alzheimer's disease treatment ISO RGD:619565 D RGD:9068941 20200609 RGD PMID:17784957|REF_RGD_ID:10047104 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:114 heart disease ISO RGD:619565 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19617408|REF_RGD_ID:2311565 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:11476 osteoporosis treatment ISO RGD:70496 D RGD:9068941 20200609 RGD PMID:18442314|REF_RGD_ID:10045965 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:12236 primary biliary cholangitis ISO RGD:619564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:13580 cholestasis ISO RGD:619564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20626112 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:13619 extrahepatic cholestasis ISO RGD:619564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:1561 cognitive disorder ISO RGD:619565 D RGD:9068941 20200609 RGD associated with Chronic Cerebral Hypoperfusion; PMID:24371084|REF_RGD_ID:10412307 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:1909 melanoma ameliorates ISO RGD:619565 D RGD:9068941 20220331 RGD mouse cell line in a mouse model PMID:29907597|REF_RGD_ID:151665504 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:1993 rectum cancer susceptibility ISO RGD:619564 D RGD:9068941 20220407 RGD DNA:SNPs:introns: (rs851011, rs851006) (human) PMID:23859041|REF_RGD_ID:150573807 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:219 colon cancer susceptibility ISO RGD:619564 D RGD:9068941 20220407 RGD DNA:SNP:intron: (rs10807156) (human) PMID:23859041|REF_RGD_ID:150573807 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:219 colon cancer susceptibility ISO RGD:619564 D RGD:9068941 20220407 RGD DNA:SNP:intron: (rs851016) (human) PMID:23027623|REF_RGD_ID:13217411 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:619565 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:motor neuron: PMID:15910777|REF_RGD_ID:10412312 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:3571 liver cancer exacerbates ISO RGD:619565 D RGD:9068941 20220324 RGD PMID:17468757|REF_RGD_ID:151665350 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:619564 D RGD:9068941 20220324 RGD mRNA:increased expression:stomach (human) PMID:32243890|REF_RGD_ID:151665345 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:619564 D RGD:9068941 20220407 RGD mRNA:increased expression:stomach (human) PMID:30238991|REF_RGD_ID:151665792 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:619565 D RGD:9068941 20220331 RGD mRNA:increased expression:lung (human) PMID:31969449|REF_RGD_ID:151665505 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:397 restrictive cardiomyopathy ISO RGD:1315342|RGD:732805 D RGD:9068941 20200609 RGD PMID:11593045|REF_RGD_ID:1302548 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:70496 D RGD:9068941 20200609 RGD PMID:21894146|REF_RGD_ID:6218988 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:5082 liver cirrhosis exacerbates ISO RGD:619565 D RGD:9068941 20220324 RGD PMID:23271722|REF_RGD_ID:151665348 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:630 genetic disease ISO RGD:619564 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:619565 D RGD:9068941 20220324 RGD PMID:23271722|REF_RGD_ID:151665348 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:619565 D RGD:9068941 20220324 RGD PMID:25216638|REF_RGD_ID:151665347 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:8552 chronic myeloid leukemia ISO RGD:619564 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16818652 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:9002165 Diabetic Nephropathies ISO RGD:619565 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased activity:kidney PMID:19066844|REF_RGD_ID:2311566 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:9003690 Carcinoma, Lewis Lung ameliorates ISO RGD:619565 D RGD:9068941 20220331 RGD mouse cell line in a mouse model PMID:29907597|REF_RGD_ID:151665504 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:9004250 Hepatic Insufficiency ISO RGD:619564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:9004831 Colitis-Associated Neoplasms ameliorates ISO RGD:619565 D RGD:9068941 20220331 RGD PMID:29907597|PMID:30541887|REF_RGD_ID:151665503|REF_RGD_ID:151665504 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:9004831 Colitis-Associated Neoplasms exacerbates ISO RGD:619565 D RGD:9068941 20220331 RGD PMID:24684847|REF_RGD_ID:151665506 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:9005172 Lung Neoplasms ISO RGD:619564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17468755 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:9005172 Lung Neoplasms ameliorates ISO RGD:619565 D RGD:9068941 20220331 RGD PMID:31969449|REF_RGD_ID:151665505 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:9005369 Hepatomegaly ISO RGD:619564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:9005930 Endotoxemia ISO RGD:70496 D RGD:9068941 20200609 RGD protein:increased activity:small intestine mucosa PMID:21641970|REF_RGD_ID:5135029 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:9005930 Endotoxemia treatment ISO RGD:70496 D RGD:9068941 20200609 RGD PMID:24312512|REF_RGD_ID:10047418 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions susceptibility ISO RGD:619564 D RGD:9068941 20220324 RGD associated with lung non-small cell carcinoma;DNA:SNP:3' utr, intron: (rs3804451) (human) PMID:26993769|REF_RGD_ID:151665351 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:9007102 Myocardial Ischemia ISO RGD:619564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:9007188 Liver Neoplasms ISO RGD:619564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17468757 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:619565 D RGD:9068941 20200609 RGD PMID:14749328|REF_RGD_ID:7495840 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:619565 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:corpus callosum, endothelial cell, astrocyte: PMID:24371084|REF_RGD_ID:10412307 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:9256 colorectal cancer exacerbates ISO RGD:619565 D RGD:9068941 20220324 RGD associated with experimental colitis PMID:22828150|REF_RGD_ID:151665346 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:9261 nasopharynx carcinoma treatment ISO RGD:619564 D RGD:9068941 20220331 RGD human cell line in a mouse model PMID:32449282|REF_RGD_ID:151665502 11705096 MAPK14 mitogen-activated protein kinase 14 gene DOID:9743 diabetic neuropathy ISO RGD:70496 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18579738|REF_RGD_ID:2311567 11705125 MYH9 myosin heavy chain 9 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:732401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 11705125 MYH9 myosin heavy chain 9 gene DOID:0050567 orofacial cleft ISO RGD:732401 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :rs7078 (human) PMID:19320731|REF_RGD_ID:12798512 11705125 MYH9 myosin heavy chain 9 gene DOID:0050567 orofacial cleft ISO RGD:732401 D RGD:9068941 20200609 RGD DNA:SNPs PMID:18716610|REF_RGD_ID:12798509 11705125 MYH9 myosin heavy chain 9 gene DOID:0050567 orofacial cleft ISO RGD:732401 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2269529, rs3752462, rs16996652 (human) PMID:19891592|REF_RGD_ID:12798511 11705125 MYH9 myosin heavy chain 9 gene DOID:0050567 orofacial cleft ISO RGD:732401 D RGD:9068941 20200609 RGD DNA:SNPs: :rs3752462, rs2009930 (human) PMID:17337617|REF_RGD_ID:12798514 11705125 MYH9 myosin heavy chain 9 gene DOID:0050758 metabolic acidosis ISO RGD:3140 D RGD:9068941 20200609 RGD protein:increased expression:brush border membrane PMID:22357915|REF_RGD_ID:7243154 11705125 MYH9 myosin heavy chain 9 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:732401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11705125 MYH9 myosin heavy chain 9 gene DOID:0050938 breast lobular carcinoma ISO RGD:732401 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 11705125 MYH9 myosin heavy chain 9 gene DOID:0060651 MYH-9 related disease ISO RGD:732401 D RGD:7240710 20180130 OMIM 11705125 MYH9 myosin heavy chain 9 gene DOID:0060651 MYH-9 related disease ISO RGD:732401 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MYH9-related disorder | ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | ClinVar Annotator: match by term: Sebastian platelet syndrome PMID:10603121|PMID:10739770|PMID:10973259|PMID:10973260|PMID:11023810|PMID:11093280|PMID:11159552|PMID:11590545|PMID:11752022|PMID:11776386|PMID:11935325|PMID:12237319|PMID:12533692|PMID:12621333|PMID:12649151|PMID:12792306|PMID:1449176|PMID:15339844|PMID:15613099|PMID:15667538|PMID:16098078|PMID:16162639|PMID:16818291|PMID:16969870|PMID:16978745|PMID:17146397|PMID:17576681|PMID:17655694|PMID:18059020|PMID:18330899|PMID:18676005|PMID:19450438|PMID:19557653|PMID:19967157|PMID:20002731|PMID:20301740|PMID:20416459|PMID:20588287|PMID:21542825|PMID:22123909|PMID:22477015|PMID:22627578|PMID:22995991|PMID:23123319|PMID:23144074|PMID:23207509|PMID:23349334|PMID:23409987|PMID:23804846|PMID:24033266|PMID:24123792|PMID:24130771|PMID:24186861|PMID:24643058|PMID:24875298|PMID:24890873|PMID:25077172|PMID:25505834|PMID:25741868|PMID:25752595|PMID:25949529|PMID:26056797|PMID:26226608|PMID:26346198|PMID:26387855|PMID:26467025|PMID:26969326|PMID:27068579|PMID:27610647|PMID:28059092|PMID:28492532|PMID:28983057|PMID:29090586|PMID:29532554|PMID:29679756|PMID:29782633|PMID:30311386|PMID:30471777|PMID:30720677|PMID:30916803|PMID:31064749|PMID:31308072|PMID:31555371|PMID:31562665|PMID:31937884|PMID:31977897|PMID:32100410|PMID:32545517|PMID:32604935|PMID:32746448|PMID:33004838|PMID:33532864|PMID:34355501|PMID:5011389|PMID:8280620|PMID:9390828|PMID:9536098 11705125 MYH9 myosin heavy chain 9 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:732401 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 11705125 MYH9 myosin heavy chain 9 gene DOID:0110032 autosomal dominant Alport syndrome ISO RGD:732401 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:4270G>C,D1424H (human) PMID:12500226|REF_RGD_ID:6902925 11705125 MYH9 myosin heavy chain 9 gene DOID:0110548 autosomal dominant nonsyndromic deafness 17 ISO RGD:732401 D RGD:7240710 20180130 OMIM 11705125 MYH9 myosin heavy chain 9 gene DOID:0110548 autosomal dominant nonsyndromic deafness 17 ISO RGD:732401 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 17 | ClinVar Annotator: match by term: Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration PMID:10603121|PMID:10973259|PMID:10973260|PMID:11023810|PMID:11159552|PMID:11590545|PMID:11752022|PMID:11776386|PMID:11935325|PMID:12533692|PMID:12621333|PMID:12649151|PMID:12792306|PMID:1449176|PMID:15339844|PMID:16098078|PMID:16162639|PMID:16818291|PMID:16969870|PMID:17146397|PMID:17655694|PMID:18059020|PMID:18330899|PMID:18676005|PMID:19557653|PMID:20002731|PMID:20301740|PMID:20416459|PMID:20588287|PMID:21542825|PMID:22123909|PMID:22477015|PMID:22627578|PMID:22995991|PMID:23144074|PMID:23207509|PMID:23349334|PMID:23409987|PMID:23804846|PMID:24033266|PMID:24130771|PMID:24186861|PMID:24643058|PMID:24890873|PMID:25077172|PMID:25505834|PMID:25741868|PMID:25752595|PMID:25949529|PMID:26056797|PMID:26226608|PMID:26346198|PMID:26387855|PMID:26467025|PMID:26969326|PMID:27068579|PMID:28059092|PMID:28492532|PMID:29090586|PMID:29532554|PMID:29782633|PMID:30311386|PMID:30471777|PMID:30720677|PMID:30916803|PMID:31064749|PMID:32100410|PMID:32545517|PMID:32604935|PMID:33532864|PMID:34355501|PMID:5011389|PMID:8280620|PMID:9390828 11705125 MYH9 myosin heavy chain 9 gene DOID:0110754 type 1 diabetes mellitus 17 ISO RGD:732401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 17 PMID:25741868 11705125 MYH9 myosin heavy chain 9 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:732401 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:19557653|PMID:23144074|PMID:24033266|PMID:25741868|PMID:26346198|PMID:26467025|PMID:26969326|PMID:27068579|PMID:28492532 11705125 MYH9 myosin heavy chain 9 gene DOID:10003 sensorineural hearing loss disease_progression ISO RGD:732401 D RGD:9068941 20200609 RGD associated with MYH9-Related Disorders;DNA:mutations:cds: PMID:26226608|REF_RGD_ID:11533922 11705125 MYH9 myosin heavy chain 9 gene DOID:1073 renal hypertension ISO RGD:732401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18794856 11705125 MYH9 myosin heavy chain 9 gene DOID:10983 Alport syndrome ISO RGD:732401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10973259 11705125 MYH9 myosin heavy chain 9 gene DOID:1184 nephrotic syndrome ISO RGD:732401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 11705125 MYH9 myosin heavy chain 9 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:732401 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:19557653|PMID:23144074|PMID:24033266|PMID:25741868|PMID:26346198|PMID:26467025|PMID:26969326|PMID:27068579|PMID:28492532 11705125 MYH9 myosin heavy chain 9 gene DOID:1588 thrombocytopenia ISO RGD:732401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10973259|PMID:11159552|PMID:11590545|PMID:11776386|PMID:12533692|PMID:12621333|PMID:12649151|PMID:12792306|PMID:1449176|PMID:15339844|PMID:16098078|PMID:16162639|PMID:17655694|PMID:18059020|PMID:21542825|PMID:22627578|PMID:23207509|PMID:24186861|PMID:25741868|PMID:26056797|PMID:28492532|PMID:29090586|PMID:30916803|PMID:31064749|PMID:32100410|PMID:32545517|PMID:34355501 11705125 MYH9 myosin heavy chain 9 gene DOID:2213 hemorrhagic disease ISO RGD:732401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:10739770|PMID:10973259|PMID:10973260|PMID:11159552|PMID:11590545|PMID:11776386|PMID:12533692|PMID:15339844|PMID:16098078|PMID:16162639|PMID:17655694|PMID:18059020|PMID:20301740|PMID:21542825|PMID:22627578|PMID:23207509|PMID:24186861|PMID:25741868|PMID:26056797|PMID:28492532|PMID:29090586|PMID:30916803|PMID:32100410|PMID:32545517 11705125 MYH9 myosin heavy chain 9 gene DOID:2921 glomerulonephritis ISO RGD:732401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glomerulonephritis PMID:25741868 11705125 MYH9 myosin heavy chain 9 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:732402 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus PMID:22313957|REF_RGD_ID:6903274 11705125 MYH9 myosin heavy chain 9 gene DOID:557 kidney disease ISO RGD:732401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:17576681|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 11705125 MYH9 myosin heavy chain 9 gene DOID:576 proteinuria ISO RGD:732401 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:25741868 11705125 MYH9 myosin heavy chain 9 gene DOID:576 proteinuria disease_progression ISO RGD:732401 D RGD:9068941 20200609 RGD associated with Epstein syndrome, Fechtner syndrome;DNA:missense mutation:exon:p.R702H, R702C(human) PMID:20200500|REF_RGD_ID:6903242 11705125 MYH9 myosin heavy chain 9 gene DOID:630 genetic disease ISO RGD:732401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 11705125 MYH9 myosin heavy chain 9 gene DOID:783 end stage renal disease ISO RGD:732401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18794854|PMID:18794856 11705125 MYH9 myosin heavy chain 9 gene DOID:783 end stage renal disease ISO RGD:732401 D RGD:9068941 20200609 RGD DNA:SNPs:multiple: PMID:20144966|REF_RGD_ID:6903243 11705125 MYH9 myosin heavy chain 9 gene DOID:783 end stage renal disease ISO RGD:732401 D RGD:9068941 20200609 RGD associated with diabetes mellitus, type 2;DNA:SNPs: : PMID:21968013|REF_RGD_ID:6903256 11705125 MYH9 myosin heavy chain 9 gene DOID:783 end stage renal disease ISO RGD:732401 D RGD:9068941 20200609 RGD associated with diabetes mellitus,type 2;DNA:SNPs: : PMID:19567477|REF_RGD_ID:6903238 11705125 MYH9 myosin heavy chain 9 gene DOID:783 end stage renal disease ISO RGD:732401 D RGD:9068941 20200609 RGD associated with hypertension, glomerulosclerosis, focal segmental;DNA:SNPs: :rs4821480, rs2032487, rs4821481(human) PMID:18794854|REF_RGD_ID:6903237 11705125 MYH9 myosin heavy chain 9 gene DOID:783 end stage renal disease ISO RGD:732401 D RGD:9068941 20200609 RGD associated with hypertension;DNA:polymorphisms:multiple: PMID:19177153|REF_RGD_ID:6903239 11705125 MYH9 myosin heavy chain 9 gene DOID:784 chronic kidney disease no_association ISO RGD:732401 D RGD:9068941 20200609 RGD PMID:22956460|REF_RGD_ID:12798515 11705125 MYH9 myosin heavy chain 9 gene DOID:9001542 Albuminuria ISO RGD:732401 D RGD:9068941 20200609 RGD associated with hypertension;DNA:SNPs: : PMID:19153477|REF_RGD_ID:6903241 11705125 MYH9 myosin heavy chain 9 gene DOID:9002631 Vitelliform Macular Dystrophy 1 ISO RGD:732401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 1 PMID:24033266|PMID:24130771|PMID:25077172|PMID:26467025|PMID:28492532|PMID:30720677 11705125 MYH9 myosin heavy chain 9 gene DOID:9004538 Hearing Loss ISO RGD:732401 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:18059020|PMID:24033266|PMID:28492532|PMID:30311386|PMID:30872814 11705125 MYH9 myosin heavy chain 9 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 11705125 MYH9 myosin heavy chain 9 gene DOID:9005875 Giant Platelet Syndrome with Thrombocytopenia ISO RGD:732401 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Giant platelet syndrome with thrombocytopenia PMID:10603121|PMID:10973259|PMID:10973260|PMID:11023810|PMID:11159552|PMID:11590545|PMID:11752022|PMID:11776386|PMID:11935325|PMID:12533692|PMID:12621333|PMID:12649151|PMID:12792306|PMID:1449176|PMID:15339844|PMID:16098078|PMID:16162639|PMID:16818291|PMID:16969870|PMID:17146397|PMID:17655694|PMID:18059020|PMID:18330899|PMID:18676005|PMID:20002731|PMID:20301740|PMID:20416459|PMID:20588287|PMID:21542825|PMID:22123909|PMID:22477015|PMID:22627578|PMID:22995991|PMID:23207509|PMID:23409987|PMID:23804846|PMID:24033266|PMID:24130771|PMID:24186861|PMID:24643058|PMID:24890873|PMID:25077172|PMID:25505834|PMID:25741868|PMID:25949529|PMID:26056797|PMID:26226608|PMID:26387855|PMID:26467025|PMID:28059092|PMID:28492532|PMID:29090586|PMID:29532554|PMID:29782633|PMID:30471777|PMID:30720677|PMID:30916803|PMID:31064749|PMID:32100410|PMID:32545517|PMID:32604935|PMID:33532864|PMID:34355501|PMID:5011389|PMID:8280620|PMID:9390828 11705125 MYH9 myosin heavy chain 9 gene DOID:9006182 Carotid Artery Injuries ISO RGD:3140 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery: PMID:11003588|REF_RGD_ID:11533926 11705125 MYH9 myosin heavy chain 9 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:732401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:24033266|PMID:25741868|PMID:28492532 11705125 MYH9 myosin heavy chain 9 gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:732401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY PMID:28492532 11705125 MYH9 myosin heavy chain 9 gene DOID:9008782 AIDS-Associated Nephropathy ISO RGD:732401 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus PMID:22313957|REF_RGD_ID:6903274 11705125 MYH9 myosin heavy chain 9 gene DOID:9008939 Breast Neoplasms ISO RGD:732401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 11705125 MYH9 myosin heavy chain 9 gene DOID:9970 obesity ISO RGD:732401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868|PMID:31064749 11705175 ATRX ATRX chromatin remodeler gene DOID:0050581 brachydactyly ISO RGD:1553098 D RGD:9068941 20200609 RGD PMID:23892236|REF_RGD_ID:9586033 11705175 ATRX ATRX chromatin remodeler gene DOID:0050908 myelodysplastic syndrome ISO RGD:1605736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19157545 11705175 ATRX ATRX chromatin remodeler gene DOID:0060118 thoracic disease ISO RGD:1605736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19291773 11705175 ATRX ATRX chromatin remodeler gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11705175 ATRX ATRX chromatin remodeler gene DOID:0060812 syndromic X-linked intellectual disability Siderius type ISO RGD:1605736 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Siderius type PMID:25741868 11705175 ATRX ATRX chromatin remodeler gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1605736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11705175 ATRX ATRX chromatin remodeler gene DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ISO RGD:1605736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia PMID:28492532 11705175 ATRX ATRX chromatin remodeler gene DOID:0080982 X-linked mental retardation-hypotonic facies syndrome-1 ISO RGD:1605736 D RGD:7240710 20180130 OMIM 11705175 ATRX ATRX chromatin remodeler gene DOID:0080982 X-linked mental retardation-hypotonic facies syndrome-1 ISO RGD:1605736 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHUDLEY-LOWRY SYNDROME | ClinVar Annotator: match by term: Carpenter-Waziri syndrome | ClinVar Annotator: match by term: Intellectual disability-hypotonic facies syndrome, X-linked PMID:10398234|PMID:10398237|PMID:10632111|PMID:10751095|PMID:10995512|PMID:11050622|PMID:12116232|PMID:15508018|PMID:15565397|PMID:15591283|PMID:16222662|PMID:16813605|PMID:1684092|PMID:16955409|PMID:18409179|PMID:18414213|PMID:20500465|PMID:21267006|PMID:23681356|PMID:24289169|PMID:24327140|PMID:24690944|PMID:24728327|PMID:24805811|PMID:25167861|PMID:25326635|PMID:25326637|PMID:25590979|PMID:25741868|PMID:25936994|PMID:26350204|PMID:26467025|PMID:28027854|PMID:28371217|PMID:28492532|PMID:29706636|PMID:31130284|PMID:3239563|PMID:32595695|PMID:6682021|PMID:6711605|PMID:7697714|PMID:8630485|PMID:8968741|PMID:9043863|PMID:9244431|PMID:9326931 11705175 ATRX ATRX chromatin remodeler gene DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ISO RGD:1605736 D RGD:7240710 20180130 OMIM 11705175 ATRX ATRX chromatin remodeler gene DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ISO RGD:1605736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED | ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome | ClinVar Annotator: match by term: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome | ClinVar Annotator: match by term: X-linked alpha-thalassemia-mental retardation syndrome PMID:10204841|PMID:10398237|PMID:10417298|PMID:10632111|PMID:10660327|PMID:10995512|PMID:11050622|PMID:12116232|PMID:12673795|PMID:15508018|PMID:15591283|PMID:16199547|PMID:16763962|PMID:16813605|PMID:16935875|PMID:16955409|PMID:17576681|PMID:17579672|PMID:17609377|PMID:18409179|PMID:18414213|PMID:19291773|PMID:20500465|PMID:20655035|PMID:21421568|PMID:21505078|PMID:22129561|PMID:22659343|PMID:22796527|PMID:22995991|PMID:23352163|PMID:23681356|PMID:24082139|PMID:24289169|PMID:24327140|PMID:24690944|PMID:24728327|PMID:24759409|PMID:24805811|PMID:25167861|PMID:25326635|PMID:25326637|PMID:25590979|PMID:25640679|PMID:25644381|PMID:25741868|PMID:26350204|PMID:26467025|PMID:26539891|PMID:28027854|PMID:28293299|PMID:28371217|PMID:28492530|PMID:28492532|PMID:28708303|PMID:29158550|PMID:29304373|PMID:29602769|PMID:29790871|PMID:29910053|PMID:31130284|PMID:32170002|PMID:3239563|PMID:32595695|PMID:3658675|PMID:6682021|PMID:6711605|PMID:7506096|PMID:7697714|PMID:7726225|PMID:8630485|PMID:8644709|PMID:8968741|PMID:9244431|PMID:9326931|PMID:9536098|PMID:9598720 11705175 ATRX ATRX chromatin remodeler gene DOID:0112125 alpha-thalassemia myelodysplasia syndrome ISO RGD:1605736 D RGD:7240710 20180130 OMIM 11705175 ATRX ATRX chromatin remodeler gene DOID:0112125 alpha-thalassemia myelodysplasia syndrome ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acquired hemoglobin H disease | ClinVar Annotator: match by term: Alpha-thalassemia myelodysplasia syndrome PMID:10995512|PMID:12858175|PMID:16955409|PMID:20500465|PMID:24327140|PMID:25590979|PMID:25741868|PMID:28492532|PMID:31130284|PMID:9326931 11705175 ATRX ATRX chromatin remodeler gene DOID:10534 stomach cancer ISO RGD:69092 D RGD:9068941 20220311 RGD PMID:27006499|REF_RGD_ID:11354809 11705175 ATRX ATRX chromatin remodeler gene DOID:1059 intellectual disability ISO RGD:1605736 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10398237|PMID:10632111|PMID:15508018|PMID:15591283|PMID:18409179|PMID:18414213|PMID:23681356|PMID:24690944|PMID:24805811|PMID:25167861|PMID:25326635|PMID:25741868|PMID:26350204|PMID:28371217|PMID:28492532|PMID:3239563|PMID:7697714 11705175 ATRX ATRX chromatin remodeler gene DOID:10907 microcephaly ISO RGD:1605736 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24690944|PMID:25741868|PMID:28371217|PMID:28492532|PMID:7697714 11705175 ATRX ATRX chromatin remodeler gene DOID:1115 sarcoma ISO RGD:1605736 D RGD:9068941 20200609 RGD protein:decreased expression: : PMID:26428317|REF_RGD_ID:11536196 11705175 ATRX ATRX chromatin remodeler gene DOID:11383 cryptorchidism ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: undescended testicle PMID:24690944|PMID:25741868|PMID:28371217|PMID:28492532|PMID:7697714 11705175 ATRX ATRX chromatin remodeler gene DOID:12849 autistic disorder ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11705175 ATRX ATRX chromatin remodeler gene DOID:12858 Huntington's disease ISO RGD:1553098 D RGD:9068941 20200609 RGD PMID:22240898|REF_RGD_ID:11040584 11705175 ATRX ATRX chromatin remodeler gene DOID:1529 penile disease ISO RGD:1605736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19291773 11705175 ATRX ATRX chromatin remodeler gene DOID:169 neuroendocrine tumor ISO RGD:1605736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21252315 11705175 ATRX ATRX chromatin remodeler gene DOID:1793 pancreatic cancer ISO RGD:1605736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21252315 11705175 ATRX ATRX chromatin remodeler gene DOID:1799 islet cell tumor disease_progression ISO RGD:1605736 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas: PMID:24148618|REF_RGD_ID:9586032 11705175 ATRX ATRX chromatin remodeler gene DOID:1838 Menkes disease ISO RGD:1605736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Menkes kinky-hair syndrome PMID:28492532 11705175 ATRX ATRX chromatin remodeler gene DOID:1909 melanoma disease_progression ISO RGD:1605736 D RGD:9068941 20200609 RGD protein:decreased expression:skin: PMID:24468746|REF_RGD_ID:9586028 11705175 ATRX ATRX chromatin remodeler gene DOID:1923 disorder of sexual development ISO RGD:1605736 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ambiguous genitalia PMID:24690944|PMID:25741868|PMID:28371217|PMID:28492532|PMID:7697714 11705175 ATRX ATRX chromatin remodeler gene DOID:2129 atypical teratoid rhabdoid tumor ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor PMID:18414213|PMID:22995991|PMID:24082139|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28293299|PMID:28492530|PMID:28492532|PMID:29304373|PMID:29602769|PMID:29910053|PMID:7697714|PMID:8968741 11705175 ATRX ATRX chromatin remodeler gene DOID:3068 glioblastoma ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma multiforme, somatic 11705175 ATRX ATRX chromatin remodeler gene DOID:3068 glioblastoma disease_progression ISO RGD:1605736 D RGD:9068941 20200609 RGD PMID:27478330|REF_RGD_ID:13442489 11705175 ATRX ATRX chromatin remodeler gene DOID:3069 malignant astrocytoma ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astrocytoma, anaplastic PMID:18414213|PMID:22995991|PMID:24082139|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28293299|PMID:28492530|PMID:28492532|PMID:29304373|PMID:29602769|PMID:29910053|PMID:7697714|PMID:8968741 11705175 ATRX ATRX chromatin remodeler gene DOID:3069 malignant astrocytoma disease_progression ISO RGD:1605736 D RGD:9068941 20200609 RGD PMID:24810474|REF_RGD_ID:9586026 11705175 ATRX ATRX chromatin remodeler gene DOID:3069 malignant astrocytoma severity ISO RGD:1605736 D RGD:9068941 20200609 RGD PMID:23765250|REF_RGD_ID:11040585 11705175 ATRX ATRX chromatin remodeler gene DOID:3070 high grade glioma ISO RGD:1605736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23583981|PMID:24705251 11705175 ATRX ATRX chromatin remodeler gene DOID:3070 high grade glioma ISO RGD:1605736 D RGD:9068941 20200609 RGD DNA:mutations: :multiple PMID:23104868|REF_RGD_ID:11040587 11705175 ATRX ATRX chromatin remodeler gene DOID:3078 anaplastic astrocytoma ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astrocytoma, anaplastic PMID:18414213|PMID:22995991|PMID:24082139|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28293299|PMID:28492530|PMID:28492532|PMID:29304373|PMID:29602769|PMID:29910053|PMID:7697714|PMID:8968741 11705175 ATRX ATRX chromatin remodeler gene DOID:3181 oligodendroglioma ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligodendroglioma 11705175 ATRX ATRX chromatin remodeler gene DOID:3347 osteosarcoma ISO RGD:1605736 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Osteosarcoma, somatic PMID:24690944|PMID:25741868|PMID:28371217|PMID:28492532|PMID:7697714 11705175 ATRX ATRX chromatin remodeler gene DOID:3376 bone osteosarcoma ISO RGD:1605736 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Bone osteosarcoma PMID:24690944|PMID:25741868|PMID:28371217|PMID:28492532|PMID:7697714 11705175 ATRX ATRX chromatin remodeler gene DOID:3907 lung squamous cell carcinoma severity ISO RGD:1605736 D RGD:9068941 20210618 RGD PMID:31374064|REF_RGD_ID:127285382 11705175 ATRX ATRX chromatin remodeler gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1605736 D RGD:9068941 20210625 RGD PMID:31374064|REF_RGD_ID:127285382 11705175 ATRX ATRX chromatin remodeler gene DOID:3948 adrenocortical carcinoma ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 11705175 ATRX ATRX chromatin remodeler gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:1605736 D RGD:9068941 20210625 RGD PMID:29748005|PMID:31374064|REF_RGD_ID:127285382|REF_RGD_ID:127285383 11705175 ATRX ATRX chromatin remodeler gene DOID:5419 schizophrenia ISO RGD:1605736 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11705175 ATRX ATRX chromatin remodeler gene DOID:630 genetic disease ISO RGD:1605736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10204841|PMID:10398234|PMID:10398237|PMID:10632111|PMID:10660327|PMID:10995512|PMID:11050622|PMID:12673795|PMID:1505078|PMID:15508018|PMID:15591283|PMID:16813605|PMID:16935875|PMID:16955409|PMID:17576681|PMID:18409179|PMID:18414213|PMID:20500465|PMID:21421568|PMID:21505078|PMID:22995991|PMID:23352163|PMID:23681356|PMID:24082139|PMID:24327140|PMID:24728327|PMID:24805811|PMID:25167861|PMID:25326635|PMID:25590979|PMID:25741868|PMID:25936994|PMID:26350204|PMID:26467025|PMID:28293299|PMID:28492530|PMID:28492532|PMID:29304373|PMID:29602769|PMID:29910053|PMID:31130284|PMID:3239563|PMID:35444965|PMID:6711605|PMID:7697714|PMID:7726225|PMID:8968741|PMID:9326931|PMID:9536098 11705175 ATRX ATRX chromatin remodeler gene DOID:769 neuroblastoma ISO RGD:1605736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23334666|PMID:26523776 11705175 ATRX ATRX chromatin remodeler gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605736 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11705175 ATRX ATRX chromatin remodeler gene DOID:9005603 Muscle Hypotonia ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:10995512|PMID:21505078|PMID:22129561|PMID:25741868|PMID:28492532 11705175 ATRX ATRX chromatin remodeler gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1605736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19291773 11705175 ATRX ATRX chromatin remodeler gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1605736 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.T1621M (human) PMID:12116232|REF_RGD_ID:11040586 11705175 ATRX ATRX chromatin remodeler gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor severity ISO RGD:1605736 D RGD:9068941 20210618 RGD PMID:26026117|REF_RGD_ID:127285385 11705175 ATRX ATRX chromatin remodeler gene DOID:9006257 Growth Disorders ISO RGD:1605736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19291773 11705175 ATRX ATRX chromatin remodeler gene DOID:9006534 Nervous System Malformations ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11705175 ATRX ATRX chromatin remodeler gene DOID:9006608 Lung Carcinoid Tumors disease_progression ISO RGD:1605736 D RGD:9068941 20210618 RGD protein:decreased expression:nucleus, lung PMID:31499081|REF_RGD_ID:127285379 11705175 ATRX ATRX chromatin remodeler gene DOID:9007661 Dwarfism ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11705175 ATRX ATRX chromatin remodeler gene DOID:9008086 Developmental Disabilities ISO RGD:1605736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:26539891|PMID:28492532|PMID:29790871 11705175 ATRX ATRX chromatin remodeler gene DOID:9008582 Developmental Disease ISO RGD:1605736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:26467025|PMID:28492532 11705175 ATRX ATRX chromatin remodeler gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1605736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19291773 11705230 CCDC62 coiled-coil domain containing 62 gene DOID:630 genetic disease ISO RGD:1603292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11705230 CCDC62 coiled-coil domain containing 62 gene DOID:9001970 Spermatogenic Failure 67 ISO RGD:1603292 D RGD:7240710 20220406 OMIM 11705230 CCDC62 coiled-coil domain containing 62 gene DOID:9001970 Spermatogenic Failure 67 ISO RGD:1603292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 67 PMID:31985809 11705247 ANKMY2 ankyrin repeat and MYND domain containing 2 gene DOID:0111234 congenital muscular dystrophy-dystroglycanopathy A7 ISO RGD:1314392 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 PMID:23288328|PMID:28492532 11705247 ANKMY2 ankyrin repeat and MYND domain containing 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11705247 ANKMY2 ankyrin repeat and MYND domain containing 2 gene DOID:630 genetic disease ISO RGD:1314392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11705247 ANKMY2 ankyrin repeat and MYND domain containing 2 gene DOID:9002189 High Myopia ISO RGD:1314392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11705261 AKR1A1 aldo-keto reductase family 1 member A1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:68486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11705261 AKR1A1 aldo-keto reductase family 1 member A1 gene DOID:0060041 autism spectrum disorder ISO RGD:68486 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11705261 AKR1A1 aldo-keto reductase family 1 member A1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:68486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11705261 AKR1A1 aldo-keto reductase family 1 member A1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:68486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11705261 AKR1A1 aldo-keto reductase family 1 member A1 gene DOID:1612 breast cancer ISO RGD:68486 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:25526449|REF_RGD_ID:27226689 11705261 AKR1A1 aldo-keto reductase family 1 member A1 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:68486 D RGD:9068941 20200609 RGD PMID:30727821|REF_RGD_ID:27226687 11705261 AKR1A1 aldo-keto reductase family 1 member A1 gene DOID:630 genetic disease ISO RGD:68486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11705261 AKR1A1 aldo-keto reductase family 1 member A1 gene DOID:684 hepatocellular carcinoma ISO RGD:68486 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32805337 11705261 AKR1A1 aldo-keto reductase family 1 member A1 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:68486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 11705261 AKR1A1 aldo-keto reductase family 1 member A1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1331936 D RGD:9068941 20200609 RGD PMID:31089212|REF_RGD_ID:27226686 11705261 AKR1A1 aldo-keto reductase family 1 member A1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1331936 D RGD:9068941 20200609 RGD PMID:29763686|REF_RGD_ID:27226688 11705261 AKR1A1 aldo-keto reductase family 1 member A1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:68486 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32805337 11705261 AKR1A1 aldo-keto reductase family 1 member A1 gene DOID:9007702 Carcinogenesis ISO RGD:68486 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32805337 11705282 PFDN6 prefoldin subunit 6 gene DOID:0050553 JMP syndrome ISO RGD:1351314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11705282 PFDN6 prefoldin subunit 6 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1351314 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 11705282 PFDN6 prefoldin subunit 6 gene DOID:630 genetic disease ISO RGD:1351314 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11705297 MRC1 mannose receptor C-type 1 gene DOID:0080600 COVID-19 ISO RGD:1319655 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11705297 MRC1 mannose receptor C-type 1 gene DOID:1024 leprosy ISO RGD:1319655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Susceptibility to leprosy and multibacillary leprosy PMID:20035344 11705297 MRC1 mannose receptor C-type 1 gene DOID:2018 hyperinsulinism ISO RGD:1319655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 11705297 MRC1 mannose receptor C-type 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1319655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 11705297 MRC1 mannose receptor C-type 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1309353 D RGD:9068941 20210122 RGD PMID:24968269|REF_RGD_ID:40924652 11705297 MRC1 mannose receptor C-type 1 gene DOID:9007692 Insulin Resistance ISO RGD:1319655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 11705297 MRC1 mannose receptor C-type 1 gene DOID:9970 obesity ISO RGD:1319655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 11705331 GALNT18 polypeptide N-acetylgalactosaminyltransferase 18 gene DOID:630 genetic disease ISO RGD:1347297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11705331 GALNT18 polypeptide N-acetylgalactosaminyltransferase 18 gene DOID:9001345 Okur-Chung Neurodevelopmental Syndrome ISO RGD:1347297 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Okur-Chung neurodevelopmental syndrome PMID:25741868 11705349 MFAP3L microfibril associated protein 3 like gene DOID:630 genetic disease ISO RGD:1322643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11705379 ICOS inducible T cell costimulator gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1344621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 11705379 ICOS inducible T cell costimulator gene DOID:0060025 immunoglobulin alpha deficiency susceptibility ISO RGD:1344621 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: :rs4521021,rs10172036(human) PMID:19020530|REF_RGD_ID:11344917 11705379 ICOS inducible T cell costimulator gene DOID:0060180 colitis ISO RGD:620123 D RGD:9068941 20200609 RGD protein:increased expression:T-cell PMID:14731127|REF_RGD_ID:1624274 11705379 ICOS inducible T cell costimulator gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1344621 D RGD:7240710 20190710 OMIM 11705379 ICOS inducible T cell costimulator gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1344621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:11956294|PMID:12353035|PMID:12577056|PMID:15507387|PMID:16199547|PMID:17576681|PMID:19380800|PMID:20817864|PMID:24033266|PMID:25213377|PMID:25329329|PMID:25741868|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257|PMID:31858365|PMID:32499645|PMID:9536098 11705379 ICOS inducible T cell costimulator gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1344621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11705379 ICOS inducible T cell costimulator gene DOID:10608 celiac disease susceptibility ISO RGD:1344621 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :rs10932037(human) PMID:19020530|REF_RGD_ID:11344917 11705379 ICOS inducible T cell costimulator gene DOID:12177 common variable immunodeficiency ISO RGD:1344621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11705379 ICOS inducible T cell costimulator gene DOID:12177 common variable immunodeficiency ISO RGD:732863 D RGD:9068941 20220825 MouseDO OMIM:240500 | OMIM:607594 | OMIM:613493 | OMIM:613494 | OMIM:613495 | OMIM:613496 | OMIM:614699 | OMIM:614700 | OMIM:615577 | OMIM:615767 11705379 ICOS inducible T cell costimulator gene DOID:13141 uveitis ISO RGD:620123 D RGD:9068941 20200609 RGD protein:increased expression:spleen, lymph node, retina PMID:16601981|REF_RGD_ID:1624269 11705379 ICOS inducible T cell costimulator gene DOID:14557 primary pulmonary hypertension ISO RGD:1344621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11705379 ICOS inducible T cell costimulator gene DOID:2349 arteriosclerosis ISO RGD:732863 D RGD:9068941 20200609 RGD PMID:17060381|REF_RGD_ID:1624268 11705379 ICOS inducible T cell costimulator gene DOID:612 primary immunodeficiency disease ISO RGD:1344621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:11343122|PMID:11956294|PMID:12577056|PMID:16199547|PMID:19380800|PMID:20817864|PMID:25741868|PMID:28492532|PMID:31858365|PMID:32499645 11705379 ICOS inducible T cell costimulator gene DOID:630 genetic disease ISO RGD:1344621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11705379 ICOS inducible T cell costimulator gene DOID:820 myocarditis ISO RGD:620123 D RGD:9068941 20200609 RGD PMID:12829180|REF_RGD_ID:1624275 11705379 ICOS inducible T cell costimulator gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1344621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 11705379 ICOS inducible T cell costimulator gene DOID:9002823 Gram-Positive Bacterial Infections ISO RGD:732863 D RGD:9068941 20200609 RGD PMID:12421962|REF_RGD_ID:1624276 11705379 ICOS inducible T cell costimulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11705379 ICOS inducible T cell costimulator gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1344621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11705395 MFSD2B MFSD2 lysolipid transporter B, sphingolipid gene DOID:630 genetic disease ISO RGD:3476989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11705410 DTD2 D-aminoacyl-tRNA deacylase 2 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1319312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:21681106 11705410 DTD2 D-aminoacyl-tRNA deacylase 2 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1319312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:20818383|PMID:22072591|PMID:25741868|PMID:32518176|PMID:33224084 11705410 DTD2 D-aminoacyl-tRNA deacylase 2 gene DOID:0112088 nuclear type mitochondrial complex I deficiency 21 ISO RGD:1319312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 PMID:20818383|PMID:22072591|PMID:25741868|PMID:32518176|PMID:33224084 11705410 DTD2 D-aminoacyl-tRNA deacylase 2 gene DOID:14330 Parkinson's disease ISO RGD:1319312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson's disease PMID:20818383|PMID:22072591|PMID:25741868|PMID:32518176|PMID:33224084 11705410 DTD2 D-aminoacyl-tRNA deacylase 2 gene DOID:630 genetic disease ISO RGD:1319312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11705410 DTD2 D-aminoacyl-tRNA deacylase 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319312 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11705417 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0050944 spastic ataxia 5 ISO RGD:1313183 D RGD:7240710 20180130 OMIM 11705417 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0050944 spastic ataxia 5 ISO RGD:1313183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia 5 PMID:22022284|PMID:25401298|PMID:25741868|PMID:26454370|PMID:26467025|PMID:27165006|PMID:28492532|PMID:30773800|PMID:31111429|PMID:32219868 11705417 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0050952 spastic ataxia ISO RGD:1313183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 11705417 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0050952 spastic ataxia onset ISO RGD:1313183 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.Y616C (c.1847G>A) (human) PMID:22022284|REF_RGD_ID:11532672 11705417 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0050977 spinocerebellar ataxia type 28 ISO RGD:1313183 D RGD:7240710 20180130 OMIM 11705417 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0050977 spinocerebellar ataxia type 28 ISO RGD:1313183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 28 PMID:16251216|PMID:20208537|PMID:20354562|PMID:20725928|PMID:23777634|PMID:25401298|PMID:25741868|PMID:25741869|PMID:26454370|PMID:26467025|PMID:26633542|PMID:27165006|PMID:28444220|PMID:28492532|PMID:29053796|PMID:30773800|PMID:31111429|PMID:31327635|PMID:33956305 11705417 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1313183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11705417 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0080840 optic atrophy 12 ISO RGD:1313183 D RGD:7240710 20200902 OMIM 11705417 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0080840 optic atrophy 12 ISO RGD:1313183 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Optic atrophy 12 PMID:25741868|PMID:26467025|PMID:26539208|PMID:26633542|PMID:28492532|PMID:29181157|PMID:32219868|PMID:32600459 11705417 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1313183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:32219868 11705417 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:1059 intellectual disability ISO RGD:1313183 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11705417 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1313183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:26467025|PMID:28492532 11705417 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:543 dystonia ISO RGD:1313183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:26467025|PMID:28492532|PMID:32219868 11705417 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:5723 optic atrophy ISO RGD:1313183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:26539208|PMID:29181157|PMID:32219868 11705417 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:630 genetic disease ISO RGD:1313183 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30773800|PMID:31111429|PMID:9536098 11705417 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1313183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 11705417 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1313183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20208537 11705493 TRIM61 tripartite motif containing 61 gene DOID:630 genetic disease ISO RGD:1354030 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11705520 LOC100967331 ubiquitin carboxyl-terminal hydrolase 4 gene DOID:0060852 Pierson syndrome ISO RGD:1344173 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 11705520 LOC100967331 ubiquitin carboxyl-terminal hydrolase 4 gene DOID:630 genetic disease ISO RGD:1344173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11705520 LOC100967331 ubiquitin carboxyl-terminal hydrolase 4 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1344173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11705559 HEATR9 HEAT repeat containing 9 gene DOID:630 genetic disease ISO RGD:1604716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11705585 PLPPR5 phospholipid phosphatase related 5 gene DOID:630 genetic disease ISO RGD:1604517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11705598 METAP1 methionyl aminopeptidase 1 gene DOID:1059 intellectual disability ISO RGD:1313634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:32764695 11705598 METAP1 methionyl aminopeptidase 1 gene DOID:630 genetic disease ISO RGD:1313634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11705620 ENPP4 ectonucleotide pyrophosphatase/phosphodiesterase 4 gene DOID:630 genetic disease ISO RGD:1318608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11705631 POLR3B RNA polymerase III subunit B gene DOID:0060794 hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism ISO RGD:1351468 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: POLR3-related leukodystrophy | ClinVar Annotator: match by term: Pol III-related leukodystrophy PMID:22036171|PMID:22036172|PMID:22855961|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32180488|PMID:32319736 11705631 POLR3B RNA polymerase III subunit B gene DOID:0060797 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism ISO RGD:1351468 D RGD:7240710 20180130 OMIM 11705631 POLR3B RNA polymerase III subunit B gene DOID:0060797 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism ISO RGD:1351468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism PMID:17576681|PMID:18851904|PMID:22036171|PMID:22036172|PMID:22855961|PMID:23355746|PMID:24190003|PMID:25133958|PMID:25339210|PMID:25741868|PMID:26011300|PMID:26045207|PMID:26204956|PMID:26478204|PMID:27029625|PMID:27512013|PMID:28492532|PMID:28589944|PMID:29141312|PMID:31221184|PMID:31969655|PMID:32180488|PMID:32319736|PMID:32870266|PMID:34440436|PMID:9536098 11705631 POLR3B RNA polymerase III subunit B gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1351468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:22036172|PMID:22855961|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736 11705631 POLR3B RNA polymerase III subunit B gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1351468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:22036172|PMID:22855961|PMID:23355746|PMID:24190003|PMID:25133958|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27029625|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736|PMID:32870266|PMID:34440436 11705631 POLR3B RNA polymerase III subunit B gene DOID:1059 intellectual disability ISO RGD:1351468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11705631 POLR3B RNA polymerase III subunit B gene DOID:13938 amenorrhea ISO RGD:1351468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:22855961|PMID:25133958|PMID:25741868|PMID:27029625|PMID:27512013|PMID:28492532|PMID:32870266|PMID:34440436 11705631 POLR3B RNA polymerase III subunit B gene DOID:1921 Klinefelter syndrome ISO RGD:1351468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:22036172|PMID:22855961|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736 11705631 POLR3B RNA polymerase III subunit B gene DOID:630 genetic disease ISO RGD:1351468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:22855961|PMID:25339210|PMID:25741868|PMID:28492532|PMID:9536098 11705631 POLR3B RNA polymerase III subunit B gene DOID:9000624 Charcot-Marie-Tooth Disease Type 1I ISO RGD:1351468 D RGD:7240710 20220223 OMIM 11705631 POLR3B RNA polymerase III subunit B gene DOID:9000624 Charcot-Marie-Tooth Disease Type 1I ISO RGD:1351468 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1I PMID:25741868|PMID:34666706|PMID:35395209 11705666 IQCN IQ motif containing N gene DOID:630 genetic disease ISO RGD:1353790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11705666 IQCN IQ motif containing N gene DOID:9006326 Spermatogenic Failure 78 ISO RGD:1353790 D RGD:7240710 20221221 OMIM 11705666 IQCN IQ motif containing N gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1353790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11705677 PPP1R3E protein phosphatase 1 regulatory subunit 3E gene DOID:0060439 lysinuric protein intolerance ISO RGD:1318988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11705677 PPP1R3E protein phosphatase 1 regulatory subunit 3E gene DOID:9000265 Specific Granule Deficiency ISO RGD:1318988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 11705677 PPP1R3E protein phosphatase 1 regulatory subunit 3E gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1318988 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11705687 LOC100974311 olfactory receptor 2M7 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1352477 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11705687 LOC100974311 olfactory receptor 2M7 gene DOID:1540 parathyroid carcinoma ISO RGD:1352477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11705687 LOC100974311 olfactory receptor 2M7 gene DOID:630 genetic disease ISO RGD:1352477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11705687 LOC100974311 olfactory receptor 2M7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11705687 LOC100974311 olfactory receptor 2M7 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11705693 RCBTB2 RCC1 and BTB domain containing protein 2 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1351172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11705693 RCBTB2 RCC1 and BTB domain containing protein 2 gene DOID:0080124 mitochondrial DNA depletion syndrome 5 ISO RGD:1351172 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:15877282|PMID:17301081|PMID:26475597|PMID:28492532 11705693 RCBTB2 RCC1 and BTB domain containing protein 2 gene DOID:1059 intellectual disability ISO RGD:1351172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11705693 RCBTB2 RCC1 and BTB domain containing protein 2 gene DOID:2570 malignant histiocytic disease ISO RGD:1557599 D RGD:9068941 20220825 MouseDO 11705693 RCBTB2 RCC1 and BTB domain containing protein 2 gene DOID:630 genetic disease ISO RGD:1351172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11705725 SEC11C SEC11 homolog C, signal peptidase complex subunit gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1348413 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 11705725 SEC11C SEC11 homolog C, signal peptidase complex subunit gene DOID:0111988 immunodeficiency 12 ISO RGD:1348413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 11705725 SEC11C SEC11 homolog C, signal peptidase complex subunit gene DOID:630 genetic disease ISO RGD:1348413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11705738 ZFP1 ZFP1 zinc finger protein gene DOID:2565 macular corneal dystrophy ISO RGD:1351790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 11705738 ZFP1 ZFP1 zinc finger protein gene DOID:607 paraplegia ISO RGD:1351790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11705738 ZFP1 ZFP1 zinc finger protein gene DOID:630 genetic disease ISO RGD:1351790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11705755 ARHGAP9 Rho GTPase activating protein 9 gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:1313314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2U PMID:17576681|PMID:24482476|PMID:28492532|PMID:9536098 11705755 ARHGAP9 Rho GTPase activating protein 9 gene DOID:11840 coronary artery vasospasm ISO RGD:1313314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery spasm 3, susceptibility to PMID:19911011 11705755 ARHGAP9 Rho GTPase activating protein 9 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1313314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28832565 11705755 ARHGAP9 Rho GTPase activating protein 9 gene DOID:630 genetic disease ISO RGD:1313314 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11705755 ARHGAP9 Rho GTPase activating protein 9 gene DOID:6846 familial melanoma ISO RGD:1313314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 11705755 ARHGAP9 Rho GTPase activating protein 9 gene DOID:9000026 Spastic Paraplegia 70, Autosomal Recessive ISO RGD:1313314 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 70, autosomal recessive PMID:24482476|PMID:28492532 11705755 ARHGAP9 Rho GTPase activating protein 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11705755 ARHGAP9 Rho GTPase activating protein 9 gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1313314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease | ClinVar Annotator: match by term: PULMONARY ALVEOLAR PROTEINOSIS, REUNION ISLAND PMID:17576681|PMID:24482476|PMID:28492532|PMID:9536098 11705793 PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:0060001 withdrawal disorder treatment ISO RGD:621859 D RGD:9068941 20200609 RGD associated with Morphine Dependence PMID:25604667|REF_RGD_ID:13514096 11705793 PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:12858 Huntington's disease ISO RGD:621859 D RGD:9068941 20200609 RGD PMID:18502785|REF_RGD_ID:13515080 11705793 PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:1596 depressive disorder treatment ISO RGD:621859 D RGD:9068941 20200609 RGD PMID:27457507|REF_RGD_ID:13514054 11705793 PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:1824 status epilepticus ISO RGD:621859 D RGD:9068941 20200609 RGD protein:increased phosphorylation:brain PMID:25219249|REF_RGD_ID:13515071 11705793 PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:3312 bipolar disorder ISO RGD:1347073 D RGD:9068941 20200609 RGD DNA, mRNA:SNPs, haplotype, splice variant:multiple PMID:23295814|REF_RGD_ID:13515076 11705793 PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:3454 brain infarction ISO RGD:621859 D RGD:9068941 20221027 RGD protein:altered expression:brain (rat) PMID:12161747|REF_RGD_ID:155630606 11705793 PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:5419 schizophrenia ISO RGD:1347073 D RGD:9068941 20200609 RGD DNA, mRNA:SNPs, haplotype, splice variant:multiple PMID:23295814|REF_RGD_ID:13515076 11705793 PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:5419 schizophrenia ISO RGD:621859 D RGD:9068941 20200609 RGD protein:increased threonine phosphorylation:nucleus accumbens PMID:22820052|REF_RGD_ID:13515078 11705793 PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:630 genetic disease ISO RGD:1347073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11705793 PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:9003104 Intracranial Hemorrhages ISO RGD:621859 D RGD:9068941 20200609 RGD PMID:23543809|REF_RGD_ID:13515075 11705793 PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:621859 D RGD:9068941 20200609 RGD PMID:23153068|REF_RGD_ID:13515077 11705793 PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:9003805 Catalepsy ISO RGD:1347073 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20682746 11705793 PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:9008394 Drug-Induced Dyskinesia treatment ISO RGD:621859 D RGD:9068941 20200609 RGD associated with Parkinsonian Disorders PMID:27771532|REF_RGD_ID:13514053 11705793 PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:9008675 Dyskinesias ISO RGD:1347073 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20682746 11705807 CLTC clathrin heavy chain gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:732795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22474449 11705807 CLTC clathrin heavy chain gene DOID:0050777 Joubert syndrome ISO RGD:732795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11705807 CLTC clathrin heavy chain gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:732795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability PMID:25741868 11705807 CLTC clathrin heavy chain gene DOID:0080226 autosomal dominant intellectual developmental disorder 56 ISO RGD:732795 D RGD:7240710 20190315 OMIM 11705807 CLTC clathrin heavy chain gene DOID:0080226 autosomal dominant intellectual developmental disorder 56 ISO RGD:732795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 56 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 PMID:17576681|PMID:22831640|PMID:25741868|PMID:28135719|PMID:28492532|PMID:29100083|PMID:31776469|PMID:9536098 11705807 CLTC clathrin heavy chain gene DOID:1059 intellectual disability ISO RGD:732795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11705807 CLTC clathrin heavy chain gene DOID:630 genetic disease ISO RGD:732795 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1063406|PMID:11955450|PMID:15217342|PMID:15284851|PMID:15858577|PMID:16618797|PMID:16982422|PMID:18762582|PMID:19348700|PMID:19854944|PMID:20206336|PMID:22511880|PMID:22831640|PMID:23911319|PMID:24234437|PMID:24253303|PMID:24870542|PMID:25741868|PMID:26822784|PMID:28135719|PMID:28492532|PMID:29100083|PMID:31776469|PMID:8375651|PMID:9147638|PMID:9671304 11705807 CLTC clathrin heavy chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732795 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11705807 CLTC clathrin heavy chain gene DOID:9008086 Developmental Disabilities ISO RGD:732795 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11705807 CLTC clathrin heavy chain gene DOID:9008582 Developmental Disease ISO RGD:732795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11705848 RPL10 ribosomal protein L10 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1350175 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11705848 RPL10 ribosomal protein L10 gene DOID:0050476 Barth syndrome ISO RGD:1350175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11705848 RPL10 ribosomal protein L10 gene DOID:0050800 creatine transporter deficiency ISO RGD:1350175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11705848 RPL10 ribosomal protein L10 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11705848 RPL10 ribosomal protein L10 gene DOID:0080241 syndromic X-linked mental retardation 35 ISO RGD:1350175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 35 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 PMID:18258260|PMID:25316788|PMID:25741868|PMID:25846674|PMID:26290468|PMID:7626060 11705848 RPL10 ribosomal protein L10 gene DOID:0080241 syndromic X-linked mental retardation 35 susceptibility ISO RGD:1350175 D RGD:7240710 20230517 OMIM 11705848 RPL10 ribosomal protein L10 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1350175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 11705848 RPL10 ribosomal protein L10 gene DOID:0112003 immunodeficiency 33 ISO RGD:1350175 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11705848 RPL10 ribosomal protein L10 gene DOID:10588 adrenoleukodystrophy ISO RGD:1350175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11705848 RPL10 ribosomal protein L10 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1350175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11705848 RPL10 ribosomal protein L10 gene DOID:12849 autistic disorder ISO RGD:1350175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 5 PMID:16940977|PMID:21567917|PMID:21681106|PMID:25316788|PMID:30208311 11705848 RPL10 ribosomal protein L10 gene DOID:12849 autistic disorder susceptibility ISO RGD:1350175 D RGD:7240710 20230517 OMIM 11705848 RPL10 ribosomal protein L10 gene DOID:13628 favism ISO RGD:1350175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11705848 RPL10 ribosomal protein L10 gene DOID:2729 dyskeratosis congenita ISO RGD:1350175 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11705848 RPL10 ribosomal protein L10 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1350175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23263491 11705848 RPL10 ribosomal protein L10 gene DOID:607 paraplegia ISO RGD:1350175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11705848 RPL10 ribosomal protein L10 gene DOID:630 genetic disease ISO RGD:1350175 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11705848 RPL10 ribosomal protein L10 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11705848 RPL10 ribosomal protein L10 gene DOID:9002720 Splenomegaly ISO RGD:1350175 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11705872 SYT12 synaptotagmin 12 gene DOID:1059 intellectual disability ISO RGD:737534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11705872 SYT12 synaptotagmin 12 gene DOID:630 genetic disease ISO RGD:737534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11705872 SYT12 synaptotagmin 12 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:737534 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11705872 SYT12 synaptotagmin 12 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:737534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1604803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1604803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1604803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:25741868|PMID:28492532|PMID:32376792 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0050690 brachyolmia ISO RGD:1604803 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brachyolmia | ClinVar Annotator: match by term: Brachyrachia PMID:18587396|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22419508|PMID:22689196|PMID:22702953|PMID:22851605|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25703509|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28166811|PMID:28251916|PMID:28492532|PMID:28898540|PMID:29858556|PMID:30230566|PMID:30373780|PMID:31475037|PMID:32376792|PMID:4056805|PMID:8179305 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0080001 bone disease ISO RGD:1604803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21964574|PMID:22187434 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0080006 bone development disease ISO RGD:1604803 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:10463355|PMID:12884428|PMID:14755468|PMID:17879966|PMID:18587396|PMID:19232556|PMID:20037588|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21573172|PMID:21658220|PMID:21964829|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22702953|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24830047|PMID:25703509|PMID:25741868|PMID:25802885|PMID:26048687|PMID:26170305|PMID:26249260|PMID:26377240|PMID:26467025|PMID:26948711|PMID:27530454|PMID:28492532|PMID:28687525|PMID:29776788|PMID:32381727|PMID:34008892|PMID:6628444 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type ISO RGD:1604803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia PMID:28492532 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C ISO RGD:1604803 D RGD:7240710 20180711 OMIM 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C ISO RGD:1604803 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy 2 C PMID:10463355|PMID:11891693|PMID:12884428|PMID:14755468|PMID:1520078|PMID:15668982|PMID:16199547|PMID:17576681|PMID:17879966|PMID:18587396|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21658220|PMID:21964574|PMID:21964829|PMID:22065612|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22675077|PMID:22689196|PMID:22702953|PMID:22791502|PMID:22851605|PMID:23306656|PMID:24319099|PMID:24342753|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24830047|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25363768|PMID:25703509|PMID:25741868|PMID:25802885|PMID:25900305|PMID:26046366|PMID:26048687|PMID:26110311|PMID:26170305|PMID:26249260|PMID:26377240|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27066566|PMID:27330106|PMID:27549087|PMID:27751652|PMID:28166811|PMID:28251916|PMID:28492532|PMID:28687525|PMID:28898540|PMID:29770609|PMID:29776788|PMID:29858556|PMID:30214761|PMID:30230566|PMID:30373780|PMID:30564185|PMID:31041394|PMID:31191204|PMID:31407473|PMID:31468327|PMID:31475037|PMID:32028661|PMID:32376792|PMID:32381727|PMID:32579787|PMID:34008892|PMID:4056805|PMID:6628444|PMID:8179305|PMID:9536098|PMID:956253 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0110555 autosomal dominant nonsyndromic deafness 25 ISO RGD:735797 D RGD:9068941 20220825 MouseDO OMIM:605583 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:1604803 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy PMID:10463355|PMID:1520078|PMID:15668982|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20460441|PMID:21115951|PMID:21288981|PMID:21454511|PMID:22065612|PMID:22291064|PMID:22526352|PMID:22702953|PMID:24319099|PMID:24789864|PMID:25741868|PMID:26048687|PMID:26467025|PMID:26948711|PMID:28492532|PMID:31041394|PMID:31191204|PMID:31468327|PMID:32579787|PMID:8179305 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:1604803 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:20037586|PMID:20037587|PMID:20037588|PMID:20460441|PMID:21336783|PMID:22702953|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28492532 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111215 distal hereditary motor neuronopathy type 8 ISO RGD:1604803 D RGD:7240710 20180130 OMIM 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111215 distal hereditary motor neuronopathy type 8 ISO RGD:1604803 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal dominant congenital benign spinal muscular atrophy | ClinVar Annotator: match by term: Distal spinal muscular atrophy, congenital nonprogressive | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII PMID:10463355|PMID:15668982|PMID:17879966|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21658220|PMID:21964574|PMID:22065612|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22675077|PMID:22689196|PMID:22702953|PMID:22851605|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25741868|PMID:25900305|PMID:26048687|PMID:26110311|PMID:26377240|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27549087|PMID:27751652|PMID:28166811|PMID:28251916|PMID:28492532|PMID:28687525|PMID:28898540|PMID:29776788|PMID:29858556|PMID:30230566|PMID:30373780|PMID:31041394|PMID:31191204|PMID:31475037|PMID:32376792|PMID:32381727|PMID:32579787|PMID:34008892|PMID:4056805|PMID:8179305 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111453 2-aminoadipic 2-oxoadipic aciduria ISO RGD:1604803 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 2-KETOADIPIC ACIDURIA PMID:25326637|PMID:25741868|PMID:28492532 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111514 metatropic dysplasia ISO RGD:1604803 D RGD:7240710 20180130 OMIM 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111514 metatropic dysplasia ISO RGD:1604803 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Metatropic dwarfism | ClinVar Annotator: match by term: Metatropic dysplasia PMID:14755468|PMID:17879966|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21658220|PMID:21964574|PMID:21964829|PMID:22419508|PMID:22689196|PMID:22702953|PMID:22851605|PMID:24575025|PMID:24789864|PMID:24830047|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26249260|PMID:26377240|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27530454|PMID:27751652|PMID:28166811|PMID:28251916|PMID:28492532|PMID:28687525|PMID:28898540|PMID:29776788|PMID:29858556|PMID:30230566|PMID:30373780|PMID:31475037|PMID:32376792|PMID:32381727|PMID:34008892|PMID:4056805|PMID:6628444|PMID:8179305 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111539 parastremmatic dwarfism ISO RGD:1604803 D RGD:7240710 20180130 OMIM 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111539 parastremmatic dwarfism ISO RGD:1604803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parastremmatic dwarfism PMID:14755468|PMID:17879966|PMID:19232556|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21658220|PMID:22702953|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26249260|PMID:26377240|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28251916|PMID:28492532|PMID:28687525|PMID:29776788|PMID:29858556|PMID:30230566|PMID:30373780|PMID:32381727|PMID:34008892|PMID:4056805|PMID:6628444|PMID:8179305 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111552 scapuloperoneal spinal muscular atrophy ISO RGD:1604803 D RGD:7240710 20180130 OMIM 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111552 scapuloperoneal spinal muscular atrophy ISO RGD:1604803 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Amyotrophy, neurogenic scapuloperoneal, New England type | ClinVar Annotator: match by term: Scapuloperoneal Form of Spinal Muscular Atrophy | ClinVar Annotator: match by term: Scapuloperoneal spinal muscular atrophy PMID:1520078|PMID:15668982|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22065612|PMID:22419508|PMID:22689196|PMID:22702953|PMID:22851605|PMID:24319099|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28166811|PMID:28251916|PMID:28492532|PMID:28898540|PMID:29858556|PMID:30230566|PMID:30373780|PMID:31041394|PMID:31191204|PMID:31468327|PMID:31475037|PMID:32376792|PMID:32579787|PMID:4056805|PMID:8179305 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111553 spondyloepiphyseal dysplasia Maroteaux type ISO RGD:1604803 D RGD:7240710 20180130 OMIM 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111553 spondyloepiphyseal dysplasia Maroteaux type ISO RGD:1604803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PSEUDO-MORQUIO SYNDROME, TYPE 2 | ClinVar Annotator: match by term: SED, Maroteaux type | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia Maroteaux type PMID:12884428|PMID:14755468|PMID:17879966|PMID:19232556|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21658220|PMID:22702953|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25741868|PMID:25802885|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26249260|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28251916|PMID:28492532|PMID:29858556|PMID:30230566|PMID:30373780|PMID:4056805|PMID:6628444|PMID:8179305 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111554 spondylometaphyseal dysplasia Kozlowski type ISO RGD:1604803 D RGD:7240710 20180130 OMIM 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111554 spondylometaphyseal dysplasia Kozlowski type ISO RGD:1604803 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: SMD Kozlowski type | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, Kozlowski type PMID:10463355|PMID:17879966|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21658220|PMID:21964574|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22689196|PMID:22702953|PMID:22851605|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25741868|PMID:25900305|PMID:26048687|PMID:26110311|PMID:26170305|PMID:26377240|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28166811|PMID:28251916|PMID:28492532|PMID:28687525|PMID:28898540|PMID:29776788|PMID:29858556|PMID:30230566|PMID:30373780|PMID:31475037|PMID:32376792|PMID:32381727|PMID:34008892|PMID:4056805|PMID:8179305 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0112295 spondylometaphyseal dysplasia ISO RGD:1604803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia PMID:28492532 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1604803 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:10463355|PMID:11891693|PMID:14755468|PMID:1520078|PMID:18587396|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22689196|PMID:22702953|PMID:22791502|PMID:22851605|PMID:24319099|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25703509|PMID:25741868|PMID:25802885|PMID:25900305|PMID:26048687|PMID:26110311|PMID:26249260|PMID:26467025|PMID:26948711|PMID:27330106|PMID:27751652|PMID:28492532|PMID:28898540|PMID:29858556|PMID:30230566|PMID:30373780|PMID:30564185|PMID:31468327|PMID:32376792|PMID:4056805|PMID:8179305|PMID:956253 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1604803 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10463355|PMID:11891693|PMID:14755468|PMID:1520078|PMID:18587396|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22689196|PMID:22702953|PMID:22791502|PMID:22851605|PMID:24319099|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25703509|PMID:25741868|PMID:25802885|PMID:25900305|PMID:26048687|PMID:26110311|PMID:26249260|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27330106|PMID:27751652|PMID:28251916|PMID:28492532|PMID:28898540|PMID:29858556|PMID:30230566|PMID:30373780|PMID:30564185|PMID:31468327|PMID:32376792|PMID:4056805|PMID:8179305|PMID:956253 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1604803 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:10463355|PMID:11891693|PMID:14755468|PMID:1520078|PMID:18587396|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22689196|PMID:22702953|PMID:22791502|PMID:22851605|PMID:24319099|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25703509|PMID:25741868|PMID:25802885|PMID:25900305|PMID:26048687|PMID:26110311|PMID:26249260|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27330106|PMID:27751652|PMID:28251916|PMID:28492532|PMID:28898540|PMID:29858556|PMID:30230566|PMID:30373780|PMID:30564185|PMID:31468327|PMID:32376792|PMID:4056805|PMID:8179305|PMID:956253 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1604803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10463355|PMID:11891693|PMID:14755468|PMID:1520078|PMID:18587396|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22689196|PMID:22702953|PMID:22791502|PMID:22851605|PMID:24319099|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25703509|PMID:25741868|PMID:25802885|PMID:25900305|PMID:26048687|PMID:26110311|PMID:26249260|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27330106|PMID:27751652|PMID:28251916|PMID:28492532|PMID:28898540|PMID:29770609|PMID:29858556|PMID:30230566|PMID:30373780|PMID:30564185|PMID:31468327|PMID:32376792|PMID:4056805|PMID:8179305|PMID:956253 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1604803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10463355|PMID:11891693|PMID:14755468|PMID:1520078|PMID:16199547|PMID:18587396|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22689196|PMID:22702953|PMID:22791502|PMID:22851605|PMID:24319099|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25703509|PMID:25741868|PMID:25802885|PMID:25900305|PMID:26048687|PMID:26110311|PMID:26249260|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27330106|PMID:27751652|PMID:28251916|PMID:28492532|PMID:28898540|PMID:29770609|PMID:29858556|PMID:30230566|PMID:30373780|PMID:30564185|PMID:31468327|PMID:32376792|PMID:4056805|PMID:8179305|PMID:956253 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1604803 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10463355|PMID:11891693|PMID:14755468|PMID:1520078|PMID:16199547|PMID:18587396|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21270786|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22689196|PMID:22702953|PMID:22791502|PMID:22851605|PMID:24319099|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25703509|PMID:25741868|PMID:25802885|PMID:25900305|PMID:25974703|PMID:26048687|PMID:26110311|PMID:26249260|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27330106|PMID:27751652|PMID:28251916|PMID:28492532|PMID:28898540|PMID:29770609|PMID:29858556|PMID:30230566|PMID:30373780|PMID:30564185|PMID:31468327|PMID:32376792|PMID:4056805|PMID:8179305|PMID:956253 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:11836 clubfoot ISO RGD:1604803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:20037587|PMID:20037588|PMID:21288981|PMID:21454511|PMID:24319099|PMID:24789864|PMID:25741868|PMID:28492532 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:12377 spinal muscular atrophy ISO RGD:1604803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:20037586|PMID:20037587|PMID:20037588|PMID:20460441|PMID:21336783|PMID:22702953|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28251916|PMID:28492532 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:2256 osteochondrodysplasia ISO RGD:1604803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18587396 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:2661 myoepithelioma ISO RGD:1604803 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:3070 high grade glioma ISO RGD:1604803 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:33629929 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1604803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245013 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:440 neuromuscular disease ISO RGD:1604803 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neuromuscular disease | ClinVar Annotator: match by term: Neuromuscular disorder PMID:12884428|PMID:1520078|PMID:15668982|PMID:18587396|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:22065612|PMID:22419508|PMID:22675077|PMID:22702953|PMID:24319099|PMID:24575025|PMID:24577120|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25703509|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26467025|PMID:26948711|PMID:27549087|PMID:27751652|PMID:28492532|PMID:29858556|PMID:30230566|PMID:30373780|PMID:31041394|PMID:31191204|PMID:31468327|PMID:32579787|PMID:4056805|PMID:8179305 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:630 genetic disease ISO RGD:1604803 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11891693|PMID:14755468|PMID:15152081|PMID:1520078|PMID:15668982|PMID:17576681|PMID:17879966|PMID:18587396|PMID:19232556|PMID:19661060|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21658220|PMID:21964574|PMID:22065612|PMID:22675077|PMID:22689196|PMID:22702953|PMID:22791502|PMID:22851605|PMID:24319099|PMID:24575025|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25363768|PMID:25741868|PMID:25900305|PMID:26046366|PMID:26110311|PMID:26170305|PMID:26249260|PMID:26377240|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27330106|PMID:27549087|PMID:27751652|PMID:28251916|PMID:28492532|PMID:28687525|PMID:28898540|PMID:29776788|PMID:29858556|PMID:30230566|PMID:30373780|PMID:30564185|PMID:31041394|PMID:31191204|PMID:31468327|PMID:32028661|PMID:32376792|PMID:32381727|PMID:32579787|PMID:34008892|PMID:4056805|PMID:6628444|PMID:8179305|PMID:9536098|PMID:956253 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:65 connective tissue disease ISO RGD:1604803 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:19666518|PMID:22419508|PMID:22851605|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:8398 osteoarthritis ISO RGD:1604803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21964574 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:9000655 Hereditary Motor Neuropathy with Myopathic Features ISO RGD:1604803 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neuromyopathy PMID:12884428|PMID:1520078|PMID:18587396|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:22419508|PMID:22702953|PMID:24319099|PMID:24575025|PMID:24577120|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25703509|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28492532|PMID:29858556|PMID:30230566|PMID:30373780|PMID:31468327|PMID:4056805|PMID:8179305 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:9002211 Hyperalgesia ISO RGD:1604803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18234883 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:9003049 Femur Head Necrosis ISO RGD:1604803 D RGD:7240710 20190315 OMIM 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:9003049 Femur Head Necrosis ISO RGD:1604803 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Avascular necrosis of femoral head, primary, 2 PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20460441|PMID:21288981|PMID:21336783|PMID:21454511|PMID:22702953|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28251916|PMID:28492532|PMID:29858556|PMID:30230566|PMID:30373780|PMID:4056805|PMID:8179305 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:9003559 Brachyolmia Type 3 ISO RGD:1604803 D RGD:7240710 20180130 OMIM 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:9003559 Brachyolmia Type 3 ISO RGD:1604803 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brachyolmia Type 3 | ClinVar Annotator: match by term: Brachyolmia autosomal dominant PMID:18587396|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22419508|PMID:22689196|PMID:22702953|PMID:22851605|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25703509|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28166811|PMID:28251916|PMID:28492532|PMID:28898540|PMID:29858556|PMID:30230566|PMID:30373780|PMID:31475037|PMID:32376792|PMID:4056805|PMID:8179305 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:9003919 Urination Disorders ISO RGD:1604803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20956320 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:9004825 Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal ISO RGD:1604803 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia and progressive central nervous system degeneration, lethal PMID:20425821|PMID:20577006|PMID:25741868 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:9006635 Hyponatremia ISO RGD:1604803 D RGD:7240710 20181003 OMIM 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:9006635 Hyponatremia ISO RGD:1604803 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sodium serum level quantitative trait locus 1 PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20460441|PMID:21288981|PMID:21336783|PMID:21454511|PMID:22702953|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28251916|PMID:28492532|PMID:29858556|PMID:30230566|PMID:30373780|PMID:4056805|PMID:8179305 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:9006934 Digital Arthropathy-Brachydactyly, Familial ISO RGD:1604803 D RGD:7240710 20180130 OMIM 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:9006934 Digital Arthropathy-Brachydactyly, Familial ISO RGD:1604803 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial digital arthropathy-brachydactyly PMID:11891693|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20460441|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21964574|PMID:22702953|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28251916|PMID:28492532|PMID:29858556|PMID:30230566|PMID:30373780|PMID:4056805|PMID:8179305 11705898 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:9008855 Brachyolmia Type 2 ISO RGD:1604803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia Maroteaux type PMID:12884428|PMID:14755468|PMID:17879966|PMID:19232556|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21658220|PMID:22702953|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25741868|PMID:25802885|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26249260|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28251916|PMID:28492532|PMID:29858556|PMID:30230566|PMID:30373780|PMID:4056805|PMID:6628444|PMID:8179305 11705925 TJP3 tight junction protein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1319483 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11705925 TJP3 tight junction protein 3 gene DOID:0080600 COVID-19 ISO RGD:1319483 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11705925 TJP3 tight junction protein 3 gene DOID:13938 amenorrhea ISO RGD:1319483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11705925 TJP3 tight junction protein 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11705956 MYCBPAP MYCBP associated protein gene DOID:630 genetic disease ISO RGD:1345665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11706003 MSRB3 methionine sulfoxide reductase B3 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1351511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness PMID:19650862|PMID:21185009|PMID:30303587 11706003 MSRB3 methionine sulfoxide reductase B3 gene DOID:0110523 autosomal recessive nonsyndromic deafness 74 ISO RGD:1351511 D RGD:7240710 20180130 OMIM 11706003 MSRB3 methionine sulfoxide reductase B3 gene DOID:0110523 autosomal recessive nonsyndromic deafness 74 ISO RGD:1351511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 74 PMID:19650862|PMID:21185009|PMID:25741868|PMID:30303587 11706003 MSRB3 methionine sulfoxide reductase B3 gene DOID:630 genetic disease ISO RGD:1351511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:26467025|PMID:28492532 11706003 MSRB3 methionine sulfoxide reductase B3 gene DOID:9004538 Hearing Loss ISO RGD:1351511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing loss PMID:24033266 11706024 TAGAP T cell activation RhoGTPase activating protein gene DOID:0080600 COVID-19 ISO RGD:1318496 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 11706024 TAGAP T cell activation RhoGTPase activating protein gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1318496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 11706024 TAGAP T cell activation RhoGTPase activating protein gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1318496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 11706024 TAGAP T cell activation RhoGTPase activating protein gene DOID:630 genetic disease ISO RGD:1318496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11706024 TAGAP T cell activation RhoGTPase activating protein gene DOID:7148 rheumatoid arthritis ISO RGD:1318496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 11706024 TAGAP T cell activation RhoGTPase activating protein gene DOID:8778 Crohn's disease ISO RGD:1318496 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:21102463|PMID:36038634 11706024 TAGAP T cell activation RhoGTPase activating protein gene DOID:8893 psoriasis ISO RGD:1318496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143594 11706043 SSUH2 ssu-2 homolog gene DOID:0050700 cardiomyopathy ISO RGD:1603044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:17897828|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26467025|PMID:27066573|PMID:27312022|PMID:27854218|PMID:28492532 11706043 SSUH2 ssu-2 homolog gene DOID:0060255 rippling muscle disease 2 ISO RGD:1603044 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rippling muscle disease 2 PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:17897828|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21404291|PMID:21610159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801 11706043 SSUH2 ssu-2 homolog gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1603044 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:17897828|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21404291|PMID:21610159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801 11706043 SSUH2 ssu-2 homolog gene DOID:0110650 long QT syndrome 9 ISO RGD:1603044 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 9 PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:17897828|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21404291|PMID:21610159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801 11706043 SSUH2 ssu-2 homolog gene DOID:0111191 distal muscular dystrophy Tateyama type ISO RGD:1603044 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Distal myopathy, Tateyama type PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:17897828|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21404291|PMID:21610159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801 11706043 SSUH2 ssu-2 homolog gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1603044 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:17897828|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21404291|PMID:21610159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801 11706043 SSUH2 ssu-2 homolog gene DOID:2843 long QT syndrome ISO RGD:1603044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12082049|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:14672715|PMID:15314133|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:16730439|PMID:17537631|PMID:17556197|PMID:17576681|PMID:17897828|PMID:18487559|PMID:18583131|PMID:18606002|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21294223|PMID:21404291|PMID:21610159|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26132555|PMID:26159999|PMID:26185955|PMID:26467025|PMID:27061274|PMID:27066573|PMID:27312022|PMID:27854218|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801|PMID:9536098 11706043 SSUH2 ssu-2 homolog gene DOID:2843 long QT syndrome ISO RGD:1603044 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:17897828|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21404291|PMID:21610159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801 11706043 SSUH2 ssu-2 homolog gene DOID:630 genetic disease ISO RGD:1603044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11706043 SSUH2 ssu-2 homolog gene DOID:701 dentin dysplasia ISO RGD:1557646 D RGD:9068941 20220825 MouseDO OMIM:125400 | OMIM:125420 11706043 SSUH2 ssu-2 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11706043 SSUH2 ssu-2 homolog gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1603044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 11706071 GNG8 G protein subunit gamma 8 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:735730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 11706071 GNG8 G protein subunit gamma 8 gene DOID:0110644 long QT syndrome 1 ISO RGD:735730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:28492532 11706071 GNG8 G protein subunit gamma 8 gene DOID:409 liver disease ISO RGD:735730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11706071 GNG8 G protein subunit gamma 8 gene DOID:630 genetic disease ISO RGD:735730 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11706129 BCL11B BCL11 transcription factor B gene DOID:0060041 autism spectrum disorder ISO RGD:1322422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11706129 BCL11B BCL11 transcription factor B gene DOID:0060058 lymphoma ISO RGD:1322422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17941976 11706129 BCL11B BCL11 transcription factor B gene DOID:0080600 COVID-19 ISO RGD:1322422 D RGD:9068941 20200702 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11706129 BCL11B BCL11 transcription factor B gene DOID:0111962 combined immunodeficiency ISO RGD:1322422 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:25627829|PMID:27959755 11706129 BCL11B BCL11 transcription factor B gene DOID:0111979 immunodeficiency 49 ISO RGD:1322422 D RGD:7240710 20190315 OMIM 11706129 BCL11B BCL11 transcription factor B gene DOID:0111979 immunodeficiency 49 ISO RGD:1322422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BCL11B-related BAFopathy | ClinVar Annotator: match by term: Immunodeficiency 49 PMID:25627829|PMID:25741868|PMID:27959755|PMID:28492532|PMID:29985992|PMID:32185379 11706129 BCL11B BCL11 transcription factor B gene DOID:10907 microcephaly ISO RGD:1322422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11706129 BCL11B BCL11 transcription factor B gene DOID:12849 autistic disorder ISO RGD:1322422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:28492532 11706129 BCL11B BCL11 transcription factor B gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1322422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20972433 11706129 BCL11B BCL11 transcription factor B gene DOID:630 genetic disease ISO RGD:1322422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19344873|PMID:27535533|PMID:28303347|PMID:28492532|PMID:29985992|PMID:32659295 11706129 BCL11B BCL11 transcription factor B gene DOID:9009214 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES ISO RGD:1322422 D RGD:7240710 20190315 OMIM 11706129 BCL11B BCL11 transcription factor B gene DOID:9009214 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES ISO RGD:1322422 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities PMID:25741868|PMID:27959755|PMID:28492532|PMID:29985992 11706137 ANAPC2 anaphase promoting complex subunit 2 gene DOID:0050777 Joubert syndrome ISO RGD:1313636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11706137 ANAPC2 anaphase promoting complex subunit 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1313636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 11706137 ANAPC2 anaphase promoting complex subunit 2 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1313636 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 11706137 ANAPC2 anaphase promoting complex subunit 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1313636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11706137 ANAPC2 anaphase promoting complex subunit 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1313636 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11706137 ANAPC2 anaphase promoting complex subunit 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1313636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11706137 ANAPC2 anaphase promoting complex subunit 2 gene DOID:0112104 Sotos syndrome 3 ISO RGD:1313637 D RGD:9068941 20200609 RGD PMID:25753423|REF_RGD_ID:11055469 11706137 ANAPC2 anaphase promoting complex subunit 2 gene DOID:12449 aplastic anemia ISO RGD:1313636 D RGD:9068941 20200609 RGD protein:decreased expression:bone marrow (human) PMID:28968996|REF_RGD_ID:14696669 11706137 ANAPC2 anaphase promoting complex subunit 2 gene DOID:1405 primary angle-closure glaucoma ISO RGD:1313636 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor of eyeball (human) PMID:29332228|REF_RGD_ID:14696671 11706137 ANAPC2 anaphase promoting complex subunit 2 gene DOID:1826 epilepsy ISO RGD:1313636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11706137 ANAPC2 anaphase promoting complex subunit 2 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1313636 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (human) PMID:12036940|REF_RGD_ID:14696682 11706137 ANAPC2 anaphase promoting complex subunit 2 gene DOID:5386 lung adenoma ISO RGD:1313636 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (human) PMID:14647414|REF_RGD_ID:10047051 11706137 ANAPC2 anaphase promoting complex subunit 2 gene DOID:630 genetic disease ISO RGD:1313636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11706137 ANAPC2 anaphase promoting complex subunit 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1313636 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:25724728|REF_RGD_ID:14696679 11706137 ANAPC2 anaphase promoting complex subunit 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1313636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11706137 ANAPC2 anaphase promoting complex subunit 2 gene DOID:9008023 Memory Disorders ISO RGD:1313637 D RGD:9068941 20200609 RGD PMID:21191042|REF_RGD_ID:14696672 11706137 ANAPC2 anaphase promoting complex subunit 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1313636 D RGD:9068941 20200609 RGD mRNA:increased expression:blood (human) PMID:26046517|REF_RGD_ID:11067888 11706159 PCBP4 poly(rC) binding protein 4 gene DOID:630 genetic disease ISO RGD:1317376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11706190 EPS8L3 EPS8 like 3 gene DOID:0110702 hypotrichosis 5 ISO RGD:1318007 D RGD:7240710 20200408 OMIM 11706190 EPS8L3 EPS8 like 3 gene DOID:0110702 hypotrichosis 5 ISO RGD:1318007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotrichosis 5 PMID:15347323|PMID:23099647|PMID:25741868 11706190 EPS8L3 EPS8 like 3 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1318007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11706190 EPS8L3 EPS8 like 3 gene DOID:12849 autistic disorder ISO RGD:1318007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11706190 EPS8L3 EPS8 like 3 gene DOID:630 genetic disease ISO RGD:1318007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11706190 EPS8L3 EPS8 like 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1318007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11706190 EPS8L3 EPS8 like 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19223546 11706212 TENT5D terminal nucleotidyltransferase 5D gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11706212 TENT5D terminal nucleotidyltransferase 5D gene DOID:12849 autistic disorder ISO RGD:1348599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11706212 TENT5D terminal nucleotidyltransferase 5D gene DOID:630 genetic disease ISO RGD:1348599 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11706228 CNPY3 canopy FGF signaling regulator 3 gene DOID:0050444 infantile Refsum disease ISO RGD:1319430 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11706228 CNPY3 canopy FGF signaling regulator 3 gene DOID:0080432 developmental and epileptic encephalopathy 60 ISO RGD:1319430 D RGD:7240710 20190315 OMIM 11706228 CNPY3 canopy FGF signaling regulator 3 gene DOID:0080432 developmental and epileptic encephalopathy 60 ISO RGD:1319430 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 60 PMID:25741868|PMID:29394991 11706228 CNPY3 canopy FGF signaling regulator 3 gene DOID:630 genetic disease ISO RGD:1319430 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11706228 CNPY3 canopy FGF signaling regulator 3 gene DOID:905 Zellweger syndrome ISO RGD:1319430 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11706238 KIFC2 kinesin family member C2 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1352702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11706238 KIFC2 kinesin family member C2 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1352702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11706238 KIFC2 kinesin family member C2 gene DOID:4621 holoprosencephaly ISO RGD:1352702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11706238 KIFC2 kinesin family member C2 gene DOID:630 genetic disease ISO RGD:1352702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11706297 TRAPPC6B trafficking protein particle complex subunit 6B gene DOID:630 genetic disease ISO RGD:1319611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25954003|PMID:27618451|PMID:28397838|PMID:28490743|PMID:28626029|PMID:31687267 11706297 TRAPPC6B trafficking protein particle complex subunit 6B gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319611 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11706297 TRAPPC6B trafficking protein particle complex subunit 6B gene DOID:9009122 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY ISO RGD:1319611 D RGD:7240710 20190315 OMIM 11706297 TRAPPC6B trafficking protein particle complex subunit 6B gene DOID:9009122 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY ISO RGD:1319611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | ClinVar Annotator: match by term: TRAPPC6B-related neurodevelopmental disorder PMID:25741868|PMID:25954003|PMID:27618451|PMID:28397838|PMID:28490743|PMID:28492532|PMID:28626029|PMID:31687267|PMID:32860008 11706308 TLCD3B TLC domain containing 3B gene DOID:0050572 cone-rod dystrophy ISO RGD:1332551 D RGD:9068941 20220825 MouseDO 11706308 TLCD3B TLC domain containing 3B gene DOID:0060019 coronin-1A deficiency ISO RGD:1605610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11706308 TLCD3B TLC domain containing 3B gene DOID:0060041 autism spectrum disorder ISO RGD:1605610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 11706308 TLCD3B TLC domain containing 3B gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1605610 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 11706308 TLCD3B TLC domain containing 3B gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1605610 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 11706308 TLCD3B TLC domain containing 3B gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1605610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11706308 TLCD3B TLC domain containing 3B gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1605610 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 11706308 TLCD3B TLC domain containing 3B gene DOID:12849 autistic disorder ISO RGD:1605610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11706308 TLCD3B TLC domain containing 3B gene DOID:1882 atrial heart septal defect ISO RGD:1605610 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 11706308 TLCD3B TLC domain containing 3B gene DOID:5419 schizophrenia ISO RGD:1605610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11706308 TLCD3B TLC domain containing 3B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11706308 TLCD3B TLC domain containing 3B gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1605610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11706308 TLCD3B TLC domain containing 3B gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1605610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 11706308 TLCD3B TLC domain containing 3B gene DOID:9007876 Cone-Rod Dystrophy 22 ISO RGD:1605610 D RGD:7240710 20210929 OMIM 11706308 TLCD3B TLC domain containing 3B gene DOID:9007876 Cone-Rod Dystrophy 22 ISO RGD:1605610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 22 PMID:33077892 11706317 PLD4 phospholipase D family member 4 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1347934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11706317 PLD4 phospholipase D family member 4 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1347934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 11706317 PLD4 phospholipase D family member 4 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1347934 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 11706317 PLD4 phospholipase D family member 4 gene DOID:630 genetic disease ISO RGD:1347934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11706317 PLD4 phospholipase D family member 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1347934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 11706317 PLD4 phospholipase D family member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11706317 PLD4 phospholipase D family member 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:1557943 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 11706332 CALM1 calmodulin 1 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:735369 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:23040497|PMID:24563457|PMID:24816216|PMID:25557436|PMID:25741868|PMID:26164367|PMID:26309258|PMID:27165696|PMID:28492532 11706332 CALM1 calmodulin 1 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:735369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:23040497|PMID:23388215|PMID:24563457|PMID:24816216|PMID:25557436|PMID:25741868|PMID:26164367|PMID:26309258|PMID:27165696|PMID:28492532 11706332 CALM1 calmodulin 1 gene DOID:0060678 catecholaminergic polymorphic ventricular tachycardia 4 ISO RGD:735369 D RGD:7240710 20180130 OMIM 11706332 CALM1 calmodulin 1 gene DOID:0060678 catecholaminergic polymorphic ventricular tachycardia 4 ISO RGD:735369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 4 PMID:11569915|PMID:23040497|PMID:23388215|PMID:24563457|PMID:24816216|PMID:24958779|PMID:25557436|PMID:25741868|PMID:26164367|PMID:26309258|PMID:26969752|PMID:27165696|PMID:27374306|PMID:27927985|PMID:28158429|PMID:28492532 11706332 CALM1 calmodulin 1 gene DOID:0080054 achondrogenesis type IA ISO RGD:735369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11706332 CALM1 calmodulin 1 gene DOID:0110655 long QT syndrome 14 ISO RGD:735369 D RGD:7240710 20180130 OMIM 11706332 CALM1 calmodulin 1 gene DOID:0110655 long QT syndrome 14 ISO RGD:735369 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome 14 PMID:23040497|PMID:23388215|PMID:24076290|PMID:24563457|PMID:24816216|PMID:25036739|PMID:25557436|PMID:25741868|PMID:26164367|PMID:26309258|PMID:26969752|PMID:27165696|PMID:28158429|PMID:28492532|PMID:31454269 11706332 CALM1 calmodulin 1 gene DOID:10652 Alzheimer's disease ISO RGD:735369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11470324 11706332 CALM1 calmodulin 1 gene DOID:10652 Alzheimer's disease ISO RGD:735369 D RGD:9068941 20200609 RGD protein:decreased expression:cerebellar cortex: PMID:11470324|REF_RGD_ID:13792493 11706332 CALM1 calmodulin 1 gene DOID:5062 phencyclidine abuse ISO RGD:735369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 11706332 CALM1 calmodulin 1 gene DOID:9004657 Weight Gain ISO RGD:735369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11706332 CALM1 calmodulin 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 11706332 CALM1 calmodulin 1 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:735369 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia PMID:23040497|PMID:24563457|PMID:24816216|PMID:25557436|PMID:25741868|PMID:26164367|PMID:26309258|PMID:27165696|PMID:28492532 11706332 CALM1 calmodulin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2257 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:21216827|REF_RGD_ID:6892953 11706332 CALM1 calmodulin 1 gene DOID:9505 cannabis abuse ISO RGD:735369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 11706348 PIP4K2B phosphatidylinositol-5-phosphate 4-kinase type 2 beta gene DOID:630 genetic disease ISO RGD:736672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11706377 RPS25 ribosomal protein S25 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1353637 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11706377 RPS25 ribosomal protein S25 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1353637 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11706377 RPS25 ribosomal protein S25 gene DOID:0080690 RASopathy ISO RGD:1353637 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11706377 RPS25 ribosomal protein S25 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1353637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 11706377 RPS25 ribosomal protein S25 gene DOID:0110651 long QT syndrome 10 ISO RGD:1353637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11706377 RPS25 ribosomal protein S25 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1353637 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11706377 RPS25 ribosomal protein S25 gene DOID:0111971 immunodeficiency 18 ISO RGD:1353637 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11706377 RPS25 ribosomal protein S25 gene DOID:0111972 immunodeficiency 19 ISO RGD:1353637 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11706377 RPS25 ribosomal protein S25 gene DOID:0111973 immunodeficiency 17 ISO RGD:1353637 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11706377 RPS25 ribosomal protein S25 gene DOID:5419 schizophrenia ISO RGD:1353637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11706377 RPS25 ribosomal protein S25 gene DOID:630 genetic disease ISO RGD:1353637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11706377 RPS25 ribosomal protein S25 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1353637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11706377 RPS25 ribosomal protein S25 gene DOID:9007661 Dwarfism ISO RGD:1353637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11706387 NR4A3 nuclear receptor subfamily 4 group A member 3 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1348747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 11706387 NR4A3 nuclear receptor subfamily 4 group A member 3 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1348747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 11706387 NR4A3 nuclear receptor subfamily 4 group A member 3 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1348747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 11706387 NR4A3 nuclear receptor subfamily 4 group A member 3 gene DOID:1059 intellectual disability ISO RGD:1348747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11706387 NR4A3 nuclear receptor subfamily 4 group A member 3 gene DOID:12712 nephronophthisis ISO RGD:1348747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 11706387 NR4A3 nuclear receptor subfamily 4 group A member 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 11706387 NR4A3 nuclear receptor subfamily 4 group A member 3 gene DOID:4549 extraskeletal myxoid chondrosarcoma ISO RGD:1348747 D RGD:7240710 20190315 OMIM 11706387 NR4A3 nuclear receptor subfamily 4 group A member 3 gene DOID:630 genetic disease ISO RGD:1348747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11706387 NR4A3 nuclear receptor subfamily 4 group A member 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1348747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11706387 NR4A3 nuclear receptor subfamily 4 group A member 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1348747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 11706387 NR4A3 nuclear receptor subfamily 4 group A member 3 gene DOID:9000808 Hypercholesterolemia ISO RGD:1348747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16005304 11706387 NR4A3 nuclear receptor subfamily 4 group A member 3 gene DOID:9007692 Insulin Resistance ISO RGD:1348747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17785466 11706397 FRMD3 FERM domain containing 3 gene DOID:630 genetic disease ISO RGD:1312459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11706397 FRMD3 FERM domain containing 3 gene DOID:9001341 Chloracne ISO RGD:1312459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 11706419 SHC2 SHC adaptor protein 2 gene DOID:630 genetic disease ISO RGD:1350366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11706442 CAPN5 calpain 5 gene DOID:1059 intellectual disability ISO RGD:731758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11706442 CAPN5 calpain 5 gene DOID:630 genetic disease ISO RGD:731758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29472286|PMID:29610848|PMID:30986125 11706442 CAPN5 calpain 5 gene DOID:8501 fundus dystrophy ISO RGD:731758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 11706442 CAPN5 calpain 5 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:731758 D RGD:7240710 20200115 OMIM 11706442 CAPN5 calpain 5 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:731758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Proliferative vitreoretinopathy PMID:2234842|PMID:23055945|PMID:24381307|PMID:25741868|PMID:25994508|PMID:28492532|PMID:29472286|PMID:29610848|PMID:30986125 11706458 TENM4 teneurin transmembrane protein 4 gene DOID:0111432 essential tremor 5 ISO RGD:1312224 D RGD:7240710 20190315 OMIM 11706458 TENM4 teneurin transmembrane protein 4 gene DOID:0111432 essential tremor 5 ISO RGD:1312224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor, hereditary essential, 5 PMID:25741868|PMID:26188006 11706458 TENM4 teneurin transmembrane protein 4 gene DOID:1059 intellectual disability ISO RGD:1312224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11706458 TENM4 teneurin transmembrane protein 4 gene DOID:3312 bipolar disorder ISO RGD:1312224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21926972 11706458 TENM4 teneurin transmembrane protein 4 gene DOID:630 genetic disease ISO RGD:1312224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11706458 TENM4 teneurin transmembrane protein 4 gene DOID:674 cleft palate ISO RGD:1312224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate 11706495 ECM1 extracellular matrix protein 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1605731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11706495 ECM1 extracellular matrix protein 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11706495 ECM1 extracellular matrix protein 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605731 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11706495 ECM1 extracellular matrix protein 1 gene DOID:14498 lipoid proteinosis ISO RGD:1605731 D RGD:7240710 20180130 OMIM 11706495 ECM1 extracellular matrix protein 1 gene DOID:14498 lipoid proteinosis ISO RGD:1605731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lipid proteinosis PMID:11929856|PMID:12472532|PMID:12603844|PMID:15327549|PMID:16172042|PMID:17063986|PMID:17199583|PMID:17927570|PMID:24413997|PMID:24708644|PMID:25529926|PMID:25741868|PMID:26803878|PMID:28492532|PMID:28720532 11706495 ECM1 extracellular matrix protein 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1605731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11706495 ECM1 extracellular matrix protein 1 gene DOID:5812 MHC class II deficiency ISO RGD:1605731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11706495 ECM1 extracellular matrix protein 1 gene DOID:630 genetic disease ISO RGD:1605731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11706495 ECM1 extracellular matrix protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1605731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11706495 ECM1 extracellular matrix protein 1 gene DOID:8577 ulcerative colitis ISO RGD:1605731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438406 11706495 ECM1 extracellular matrix protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1605731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31472228 11706495 ECM1 extracellular matrix protein 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:1605731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11706495 ECM1 extracellular matrix protein 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11706509 LOC100978810 uncharacterized protein TMEM132E-DT gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11706515 TRMO tRNA methyltransferase O gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1313441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 11706515 TRMO tRNA methyltransferase O gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1313441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 11706515 TRMO tRNA methyltransferase O gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1313441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 11706515 TRMO tRNA methyltransferase O gene DOID:1059 intellectual disability ISO RGD:1313441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11706515 TRMO tRNA methyltransferase O gene DOID:12712 nephronophthisis ISO RGD:1313441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 11706515 TRMO tRNA methyltransferase O gene DOID:14004 thoracic aortic aneurysm ISO RGD:1313441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 11706515 TRMO tRNA methyltransferase O gene DOID:630 genetic disease ISO RGD:1313441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11706515 TRMO tRNA methyltransferase O gene DOID:9001793 Generalized Epilepsy ISO RGD:1313441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 11706530 MED1 mediator complex subunit 1 gene DOID:10283 prostate cancer ISO RGD:1351174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11706530 MED1 mediator complex subunit 1 gene DOID:1059 intellectual disability ISO RGD:1351174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11706530 MED1 mediator complex subunit 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1617613 D RGD:9068941 20200609 RGD PMID:27548259|REF_RGD_ID:13513972 11706530 MED1 mediator complex subunit 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1617613 D RGD:9068941 20220825 MouseDO 11706530 MED1 mediator complex subunit 1 gene DOID:289 endometriosis ISO RGD:1351174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 11706530 MED1 mediator complex subunit 1 gene DOID:6000 congestive heart failure ISO RGD:1617613 D RGD:9068941 20220825 MouseDO 11706530 MED1 mediator complex subunit 1 gene DOID:630 genetic disease ISO RGD:1351174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11706530 MED1 mediator complex subunit 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1351174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20007298 11706530 MED1 mediator complex subunit 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16109766 11706551 MASP2 MBL associated serine protease 2 gene DOID:0050185 erythema multiforme ISO RGD:1606320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12904520 11706551 MASP2 MBL associated serine protease 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11706551 MASP2 MBL associated serine protease 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1606320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant PMID:24033266|PMID:28492532 11706551 MASP2 MBL associated serine protease 2 gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:1606320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 11706551 MASP2 MBL associated serine protease 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606320 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11706551 MASP2 MBL associated serine protease 2 gene DOID:0111936 immunodeficiency 14 ISO RGD:1606320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 11706551 MASP2 MBL associated serine protease 2 gene DOID:1557 hypersensitivity reaction type III disease ISO RGD:1606320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12904520 11706551 MASP2 MBL associated serine protease 2 gene DOID:630 genetic disease ISO RGD:1606320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11706551 MASP2 MBL associated serine protease 2 gene DOID:8577 ulcerative colitis ISO RGD:1606320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12904520 11706551 MASP2 MBL associated serine protease 2 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1606320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12904520 11706551 MASP2 MBL associated serine protease 2 gene DOID:9002347 MASP2 Deficiency ISO RGD:1606320 D RGD:7240710 20180130 OMIM 11706551 MASP2 MBL associated serine protease 2 gene DOID:9002347 MASP2 Deficiency ISO RGD:1606320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 2 | ClinVar Annotator: match by term: MASP2 deficiency PMID:12904520|PMID:15086395|PMID:16029433|PMID:17137870|PMID:17252003|PMID:19234189|PMID:19307021|PMID:24033266|PMID:24332888|PMID:24658431|PMID:25741868|PMID:25930971|PMID:28492532 11706551 MASP2 MBL associated serine protease 2 gene DOID:9005372 Inflammation ISO RGD:1606320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12904520 11706551 MASP2 MBL associated serine protease 2 gene DOID:9006158 Peroxisome Biogenesis Disorder, Complementation Group K ISO RGD:1606320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K PMID:28492532 11706551 MASP2 MBL associated serine protease 2 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1606320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 11706551 MASP2 MBL associated serine protease 2 gene DOID:9255 frontotemporal dementia ISO RGD:1606320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia PMID:24033266|PMID:28492532 11706582 STC2 stanniocalcin 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1352877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097666 11706582 STC2 stanniocalcin 2 gene DOID:0110112 atrial heart septal defect 7 ISO RGD:1352877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 11706582 STC2 stanniocalcin 2 gene DOID:289 endometriosis ISO RGD:1352877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11706582 STC2 stanniocalcin 2 gene DOID:630 genetic disease ISO RGD:1352877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11706582 STC2 stanniocalcin 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352877 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 11706582 STC2 stanniocalcin 2 gene DOID:9004009 Reperfusion Injury ISO RGD:621777 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex PMID:15485913|REF_RGD_ID:2324700 11706582 STC2 stanniocalcin 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:621777 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:18959458|REF_RGD_ID:2313895 11706582 STC2 stanniocalcin 2 gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:1352877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 11706582 STC2 stanniocalcin 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1352877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18492817 11706591 LOC100983381 protein NPAT gene DOID:1059 intellectual disability ISO RGD:1323667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11706591 LOC100983381 protein NPAT gene DOID:12704 ataxia telangiectasia ISO RGD:1323667 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532|PMID:31671381 11706591 LOC100983381 protein NPAT gene DOID:14723 beta-ketothiolase deficiency ISO RGD:1323667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:28492532 11706591 LOC100983381 protein NPAT gene DOID:630 genetic disease ISO RGD:1323667 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11706591 LOC100983381 protein NPAT gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1323667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11706619 NOD1 nucleotide binding oligomerization domain containing 1 gene DOID:0060180 colitis ISO RGD:1557544 D RGD:9068941 20200609 RGD PMID:20921147|REF_RGD_ID:5508755 11706619 NOD1 nucleotide binding oligomerization domain containing 1 gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1344653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 11706619 NOD1 nucleotide binding oligomerization domain containing 1 gene DOID:10457 Legionnaires' disease ISO RGD:1557544 D RGD:9068941 20200609 RGD PMID:20685341|REF_RGD_ID:5131443 11706619 NOD1 nucleotide binding oligomerization domain containing 1 gene DOID:2841 asthma ISO RGD:1344653 D RGD:9068941 20200609 RGD DNA:insertion:cds: PMID:15718249|REF_RGD_ID:5131518 11706619 NOD1 nucleotide binding oligomerization domain containing 1 gene DOID:2841 asthma susceptibility ISO RGD:1344653 D RGD:9068941 20200609 RGD DNA:SNP: :rs2075817 (human) PMID:16918516|REF_RGD_ID:5131519 11706619 NOD1 nucleotide binding oligomerization domain containing 1 gene DOID:4483 rhinitis ISO RGD:1344653 D RGD:9068941 20200609 RGD mRNA:decreased expression:nose PMID:20384614|REF_RGD_ID:5131446 11706619 NOD1 nucleotide binding oligomerization domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11706619 NOD1 nucleotide binding oligomerization domain containing 1 gene DOID:630 genetic disease ISO RGD:1344653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11706619 NOD1 nucleotide binding oligomerization domain containing 1 gene DOID:863 nervous system disease ISO RGD:1344653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11158245 11706619 NOD1 nucleotide binding oligomerization domain containing 1 gene DOID:874 bacterial pneumonia ISO RGD:1557544 D RGD:9068941 20200609 RGD PMID:19360122|REF_RGD_ID:5131449 11706619 NOD1 nucleotide binding oligomerization domain containing 1 gene DOID:9003139 Cardiac Fibrosis ISO RGD:1557544 D RGD:9068941 20200609 RGD PMID:23028889|REF_RGD_ID:9831166 11706619 NOD1 nucleotide binding oligomerization domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11706619 NOD1 nucleotide binding oligomerization domain containing 1 gene DOID:9008103 Seasonal Allergic Rhinitis susceptibility ISO RGD:1344653 D RGD:9068941 20200609 RGD DNA:SNP: :rs2075817 (human) PMID:16918516|REF_RGD_ID:5131519 11706639 MCMDC2 minichromosome maintenance domain containing 2 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1605856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 21 PMID:28492532 11706639 MCMDC2 minichromosome maintenance domain containing 2 gene DOID:14227 azoospermia ISO RGD:1605856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 11706639 MCMDC2 minichromosome maintenance domain containing 2 gene DOID:630 genetic disease ISO RGD:1605856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11706712 ATP6V0A1 ATPase H+ transporting V0 subunit a1 gene DOID:10283 prostate cancer ISO RGD:1605737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11706712 ATP6V0A1 ATPase H+ transporting V0 subunit a1 gene DOID:10485 esophageal atresia ISO RGD:1605737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 11706712 ATP6V0A1 ATPase H+ transporting V0 subunit a1 gene DOID:12849 autistic disorder ISO RGD:1605737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868|PMID:28135719|PMID:28492532|PMID:33833240|PMID:34909687 11706712 ATP6V0A1 ATPase H+ transporting V0 subunit a1 gene DOID:630 genetic disease ISO RGD:1605737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28135719|PMID:28492532|PMID:33833240|PMID:34909687 11706712 ATP6V0A1 ATPase H+ transporting V0 subunit a1 gene DOID:9001426 Developmental and Epileptic Encephalopathy 104 ISO RGD:1605737 D RGD:7240710 20220810 OMIM 11706712 ATP6V0A1 ATPase H+ transporting V0 subunit a1 gene DOID:9001426 Developmental and Epileptic Encephalopathy 104 ISO RGD:1605737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 104 PMID:25741868|PMID:28135719|PMID:28492532|PMID:33833240|PMID:34909687 11706712 ATP6V0A1 ATPase H+ transporting V0 subunit a1 gene DOID:9008086 Developmental Disabilities ISO RGD:1605737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28135719|PMID:28492532|PMID:33833240|PMID:34909687 11706712 ATP6V0A1 ATPase H+ transporting V0 subunit a1 gene DOID:9008621 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY ISO RGD:1605737 D RGD:7240710 20221214 OMIM 11706712 ATP6V0A1 ATPase H+ transporting V0 subunit a1 gene DOID:9008621 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY ISO RGD:1605737 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and brain atrophy PMID:15742102|PMID:33833240|PMID:34909687 11706750 HES3 hes family bHLH transcription factor 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604433 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11706750 HES3 hes family bHLH transcription factor 3 gene DOID:630 genetic disease ISO RGD:1604433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11706750 HES3 hes family bHLH transcription factor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11706762 MS4A15 membrane spanning 4-domains A15 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11706762 MS4A15 membrane spanning 4-domains A15 gene DOID:1059 intellectual disability ISO RGD:1603162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11706762 MS4A15 membrane spanning 4-domains A15 gene DOID:630 genetic disease ISO RGD:1603162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11706774 APOC3 apolipoprotein C3 gene DOID:0060017 CD3epsilon deficiency ISO RGD:737569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 11706774 APOC3 apolipoprotein C3 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:737569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11706774 APOC3 apolipoprotein C3 gene DOID:0080162 lupus nephritis ISO RGD:737569 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17957542|REF_RGD_ID:7207211 11706774 APOC3 apolipoprotein C3 gene DOID:0080690 RASopathy ISO RGD:737569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11706774 APOC3 apolipoprotein C3 gene DOID:0080958 primary hypoalphalipoproteinemia 2 ISO RGD:737569 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Apolipoprotein A-I deficiency PMID:2506176|PMID:6800349 11706774 APOC3 apolipoprotein C3 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:737569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 11706774 APOC3 apolipoprotein C3 gene DOID:0111123 nephronophthisis 15 ISO RGD:737569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 11706774 APOC3 apolipoprotein C3 gene DOID:0111370 apolipoprotein C-III deficiency ISO RGD:737569 D RGD:7240710 20180130 OMIM 11706774 APOC3 apolipoprotein C3 gene DOID:0111370 apolipoprotein C-III deficiency ISO RGD:737569 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Apolipoprotein c-III deficiency | ClinVar Annotator: match by term: Hyperalphalipoproteinemia 2 PMID:11060345|PMID:19074352|PMID:20097930|PMID:2022742|PMID:23701270|PMID:24941081|PMID:24941082|PMID:25225788|PMID:25962519|PMID:27114411|PMID:28406212|PMID:28492532|PMID:28825717|PMID:29237685|PMID:30255797|PMID:32041611|PMID:34548093 11706774 APOC3 apolipoprotein C3 gene DOID:0111971 immunodeficiency 18 ISO RGD:737569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 11706774 APOC3 apolipoprotein C3 gene DOID:0111972 immunodeficiency 19 ISO RGD:737569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 11706774 APOC3 apolipoprotein C3 gene DOID:0111973 immunodeficiency 17 ISO RGD:737569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 11706774 APOC3 apolipoprotein C3 gene DOID:1059 intellectual disability ISO RGD:737569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11706774 APOC3 apolipoprotein C3 gene DOID:10603 glucose intolerance ISO RGD:737569 D RGD:9068941 20200609 RGD PMID:11959336|REF_RGD_ID:1578441 11706774 APOC3 apolipoprotein C3 gene DOID:10608 celiac disease ISO RGD:737569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 11706774 APOC3 apolipoprotein C3 gene DOID:1067 open-angle glaucoma ISO RGD:737569 D RGD:9068941 20200609 RGD protein:increased expression: aqueous humor: PMID:23860758|REF_RGD_ID:10054092 11706774 APOC3 apolipoprotein C3 gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome disease_progression ISO RGD:737569 D RGD:9068941 20200609 RGD PMID:20797315|REF_RGD_ID:7207210 11706774 APOC3 apolipoprotein C3 gene DOID:1168 familial hyperlipidemia treatment ISO RGD:10179 D RGD:9068941 20200609 RGD PMID:23542898|REF_RGD_ID:10054091 11706774 APOC3 apolipoprotein C3 gene DOID:1184 nephrotic syndrome ISO RGD:737569 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:8366982|REF_RGD_ID:2313970 11706774 APOC3 apolipoprotein C3 gene DOID:1287 cardiovascular system disease ISO RGD:737569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16544732 11706774 APOC3 apolipoprotein C3 gene DOID:13580 cholestasis ISO RGD:2136 D RGD:9068941 20200609 RGD PMID:17201892|REF_RGD_ID:10054045 11706774 APOC3 apolipoprotein C3 gene DOID:13809 familial combined hyperlipidemia ISO RGD:10179 D RGD:9068941 20200609 RGD PMID:15863838|REF_RGD_ID:1601225 11706774 APOC3 apolipoprotein C3 gene DOID:13809 familial combined hyperlipidemia ISO RGD:737569 D RGD:9068941 20200609 RGD DNA:haplotype, snp:3' utr:g.3175G>C (human) PMID:9062353|REF_RGD_ID:5685674 11706774 APOC3 apolipoprotein C3 gene DOID:13809 familial combined hyperlipidemia no_association ISO RGD:737569 D RGD:9068941 20200609 RGD DNA:haplotype, snp:3' utr:g.3175G>C (human) PMID:9812922|REF_RGD_ID:5685676 11706774 APOC3 apolipoprotein C3 gene DOID:1459 hypothyroidism ISO RGD:2136 D RGD:9068941 20200609 RGD PMID:8429259|REF_RGD_ID:1599190 11706774 APOC3 apolipoprotein C3 gene DOID:1561 cognitive disorder ISO RGD:737569 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus; PMID:19424489|REF_RGD_ID:10054096 11706774 APOC3 apolipoprotein C3 gene DOID:1612 breast cancer disease_progression ISO RGD:737569 D RGD:9068941 20220908 RGD PMID:28715644|REF_RGD_ID:153350084 11706774 APOC3 apolipoprotein C3 gene DOID:2154 nephroblastoma ISO RGD:737569 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22160518|REF_RGD_ID:7207220 11706774 APOC3 apolipoprotein C3 gene DOID:2972 renal artery obstruction ISO RGD:737569 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21613792|REF_RGD_ID:7207208 11706774 APOC3 apolipoprotein C3 gene DOID:3145 hyperlipoproteinemia type III ISO RGD:737569 D RGD:9068941 20200609 RGD PMID:2879788|REF_RGD_ID:1578447 11706774 APOC3 apolipoprotein C3 gene DOID:3393 coronary artery disease ISO RGD:737569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097064 11706774 APOC3 apolipoprotein C3 gene DOID:3393 coronary artery disease ISO RGD:737569 D RGD:9068941 20200609 RGD PMID:14709372|REF_RGD_ID:1578443 11706774 APOC3 apolipoprotein C3 gene DOID:3393 coronary artery disease ISO RGD:737569 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-482C>T, in women without Diabetes Mellitus, Type 2 (MeSH:D003924) PMID:15059615|REF_RGD_ID:1626412 11706774 APOC3 apolipoprotein C3 gene DOID:3717 gastric adenocarcinoma ISO RGD:737569 D RGD:9068941 20220901 RGD protein:decreased expression:serum PMID:21267442|REF_RGD_ID:153344621 11706774 APOC3 apolipoprotein C3 gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:737569 D RGD:9068941 20220908 RGD PMID:27002935|REF_RGD_ID:153350083 11706774 APOC3 apolipoprotein C3 gene DOID:3910 lung adenocarcinoma ISO RGD:737569 D RGD:9068941 20220901 RGD protein:altered glycosylation:: PMID:19322776|REF_RGD_ID:153344619 11706774 APOC3 apolipoprotein C3 gene DOID:5409 lung small cell carcinoma treatment ISO RGD:737569 D RGD:9068941 20220908 RGD PMID:26996551|REF_RGD_ID:11561502 11706774 APOC3 apolipoprotein C3 gene DOID:5844 myocardial infarction ISO RGD:737569 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to 11706774 APOC3 apolipoprotein C3 gene DOID:5844 myocardial infarction no_association ISO RGD:737569 D RGD:9068941 20200609 RGD PMID:10428310|REF_RGD_ID:1578442 11706774 APOC3 apolipoprotein C3 gene DOID:630 genetic disease ISO RGD:737569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11706774 APOC3 apolipoprotein C3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737569 D RGD:9068941 20220908 RGD associated with hepatitis B; PMID:31211449|REF_RGD_ID:153350082 11706774 APOC3 apolipoprotein C3 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:737569 D RGD:9068941 20220901 RGD associated with Chronic Hepatitis B;DNA:SNP: :rs2854116(human) PMID:27547913|REF_RGD_ID:153344620 11706774 APOC3 apolipoprotein C3 gene DOID:783 end stage renal disease ISO RGD:737569 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:8139482|REF_RGD_ID:2313968 11706774 APOC3 apolipoprotein C3 gene DOID:783 end stage renal disease ISO RGD:737569 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:10822722|REF_RGD_ID:7207212 11706774 APOC3 apolipoprotein C3 gene DOID:784 chronic kidney disease ISO RGD:737569 D RGD:9068941 20200609 RGD PMID:21297177|REF_RGD_ID:7207209 11706774 APOC3 apolipoprotein C3 gene DOID:784 chronic kidney disease ISO RGD:737569 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21829457|REF_RGD_ID:7207207 11706774 APOC3 apolipoprotein C3 gene DOID:7998 hyperthyroidism ISO RGD:2136 D RGD:9068941 20200609 RGD PMID:8429259|REF_RGD_ID:1599190 11706774 APOC3 apolipoprotein C3 gene DOID:8947 diabetic retinopathy severity ISO RGD:737569 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15642486|REF_RGD_ID:2306768 11706774 APOC3 apolipoprotein C3 gene DOID:9000528 Coronary Disease ISO RGD:737569 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Coronary heart disease PMID:11060345|PMID:19074352|PMID:20097930|PMID:23701270|PMID:24941081|PMID:24941082|PMID:25225788|PMID:25962519|PMID:27114411|PMID:28406212|PMID:28492532|PMID:28825717|PMID:29237685|PMID:30255797|PMID:32041611|PMID:34548093 11706774 APOC3 apolipoprotein C3 gene DOID:9000528 Coronary Disease no_association ISO RGD:737569 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-482C>T PMID:16321685|REF_RGD_ID:1601224 11706774 APOC3 apolipoprotein C3 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:737569 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:17654446|REF_RGD_ID:2306754 11706774 APOC3 apolipoprotein C3 gene DOID:9000808 Hypercholesterolemia ISO RGD:737569 D RGD:9068941 20200609 RGD PMID:2879788|REF_RGD_ID:1578447 11706774 APOC3 apolipoprotein C3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737569 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:-455T>C PMID:16813599|REF_RGD_ID:2306755 11706774 APOC3 apolipoprotein C3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:737569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11706774 APOC3 apolipoprotein C3 gene DOID:9004968 Yin Deficiency ISO RGD:2136 D RGD:9068941 20220908 RGD protein:decreased expression:serum PMID:27843478|REF_RGD_ID:153350089 11706774 APOC3 apolipoprotein C3 gene DOID:9005172 Lung Neoplasms ISO RGD:737569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19180532 11706774 APOC3 apolipoprotein C3 gene DOID:9005236 Drug Eruptions ISO RGD:737569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21055120 11706774 APOC3 apolipoprotein C3 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:737569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16030523 11706774 APOC3 apolipoprotein C3 gene DOID:9006599 Hypertriglyceridemia ISO RGD:737569 D RGD:9068941 20200609 RGD PMID:7705829|REF_RGD_ID:1578444 11706774 APOC3 apolipoprotein C3 gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:737569 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent or Coronary Disease;DNA:polymorphism PMID:15715433|REF_RGD_ID:2306767 11706774 APOC3 apolipoprotein C3 gene DOID:9006646 Metabolic Syndrome ISO RGD:737569 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:16298371|REF_RGD_ID:2306766 11706774 APOC3 apolipoprotein C3 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:737569 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-482C>T, -455T>C PMID:17416293|REF_RGD_ID:1601223 11706774 APOC3 apolipoprotein C3 gene DOID:9007571 Hyperlipoproteinemias ISO RGD:737569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2022742 11706774 APOC3 apolipoprotein C3 gene DOID:9007661 Dwarfism ISO RGD:737569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11706774 APOC3 apolipoprotein C3 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:10179 D RGD:9068941 20200609 RGD PMID:15734841|REF_RGD_ID:1601226 11706774 APOC3 apolipoprotein C3 gene DOID:9007692 Insulin Resistance treatment ISO RGD:2136 D RGD:9068941 20200609 RGD PMID:15007394|REF_RGD_ID:1580750 11706774 APOC3 apolipoprotein C3 gene DOID:9256 colorectal cancer disease_progression ISO RGD:737569 D RGD:9068941 20220901 RGD PMID:31502404|REF_RGD_ID:153344612 11706774 APOC3 apolipoprotein C3 gene DOID:9351 diabetes mellitus ISO RGD:737569 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:2352345|REF_RGD_ID:2313973 11706774 APOC3 apolipoprotein C3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:2136 D RGD:9068941 20200609 RGD PMID:21670290|REF_RGD_ID:7207205 11706774 APOC3 apolipoprotein C3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737569 D RGD:9068941 20200609 RGD PMID:1579407|REF_RGD_ID:2313972 11706774 APOC3 apolipoprotein C3 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:737569 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple PMID:16505251|REF_RGD_ID:2306765 11706774 APOC3 apolipoprotein C3 gene DOID:9970 obesity ISO RGD:737569 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9002300|REF_RGD_ID:1601191 11706785 TMEM201 transmembrane protein 201 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1604210 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11706785 TMEM201 transmembrane protein 201 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604210 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11706785 TMEM201 transmembrane protein 201 gene DOID:630 genetic disease ISO RGD:1604210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11706785 TMEM201 transmembrane protein 201 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11706803 TGFBRAP1 transforming growth factor beta receptor associated protein 1 gene DOID:2843 long QT syndrome ISO RGD:1321869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11706803 TGFBRAP1 transforming growth factor beta receptor associated protein 1 gene DOID:630 genetic disease ISO RGD:1321869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11706823 KIF1A kinesin family member 1A gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:25265257|PMID:25326635|PMID:25741868|PMID:26125038|PMID:26354034|PMID:28492532|PMID:28554332|PMID:32935419|PMID:33880452 11706823 KIF1A kinesin family member 1A gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1312759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:25741868|PMID:26467025|PMID:28492532 11706823 KIF1A kinesin family member 1A gene DOID:0050888 syndromic intellectual disability ISO RGD:1312759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452 11706823 KIF1A kinesin family member 1A gene DOID:0050890 synucleinopathy ISO RGD:1304996 D RGD:9068941 20200609 RGD PMID:19295143|REF_RGD_ID:11049591 11706823 KIF1A kinesin family member 1A gene DOID:0050952 spastic ataxia ISO RGD:1312759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 11706823 KIF1A kinesin family member 1A gene DOID:0070039 NESCAV syndrome ISO RGD:1312759 D RGD:7240710 20180130 OMIM 11706823 KIF1A kinesin family member 1A gene DOID:0070039 NESCAV syndrome ISO RGD:1312759 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 9 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 9 | ClinVar Annotator: match by term: NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT PMID:17576681|PMID:21376300|PMID:25253658|PMID:25265257|PMID:25326635|PMID:25533962|PMID:25741868|PMID:26077850|PMID:26125038|PMID:26354034|PMID:26410750|PMID:26467025|PMID:26486474|PMID:26994895|PMID:27034427|PMID:27124789|PMID:27146152|PMID:28106320|PMID:28333917|PMID:28492532|PMID:28554332|PMID:28708303|PMID:28832565|PMID:28834584|PMID:28970574|PMID:29915382|PMID:30144970|PMID:30385166|PMID:30564185|PMID:31488895|PMID:31616253|PMID:31785789|PMID:31796088|PMID:31805580|PMID:31813911|PMID:32096284|PMID:32165824|PMID:32746806|PMID:32860008|PMID:33753861|PMID:33880452|PMID:9536098 11706823 KIF1A kinesin family member 1A gene DOID:0070147 hereditary sensory neuropathy type 2C ISO RGD:1312759 D RGD:7240710 20180130 OMIM 11706823 KIF1A kinesin family member 1A gene DOID:0070147 hereditary sensory neuropathy type 2C ISO RGD:1312759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIC | ClinVar Annotator: match by term: Neuropathy, hereditary sensory, type 2C PMID:17576681|PMID:21376300|PMID:21820098|PMID:22258533|PMID:25265257|PMID:25741868|PMID:26077850|PMID:26467025|PMID:27034427|PMID:27146152|PMID:28106320|PMID:28333917|PMID:28492532|PMID:28970574|PMID:29915382|PMID:31488895|PMID:31616253|PMID:9536098 11706823 KIF1A kinesin family member 1A gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1312759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:21820098|PMID:22258533|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:28106320|PMID:28492532|PMID:28554332|PMID:28970574|PMID:30564185|PMID:31616253|PMID:32096284|PMID:32860008 11706823 KIF1A kinesin family member 1A gene DOID:0070161 hereditary sensory and autonomic neuropathy type 2 ISO RGD:1312759 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 2 PMID:25741868|PMID:26467025|PMID:28492532 11706823 KIF1A kinesin family member 1A gene DOID:0080539 PEHO syndrome ISO RGD:1312759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PEHO syndrome PMID:21376300|PMID:25253658|PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452 11706823 KIF1A kinesin family member 1A gene DOID:0081120 Graves ophthalmopathy ISO RGD:1312759 D RGD:9068941 20200609 RGD PMID:26451909|REF_RGD_ID:12911230 11706823 KIF1A kinesin family member 1A gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1312759 D RGD:7240710 20180130 OMIM 11706823 KIF1A kinesin family member 1A gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1312759 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive PMID:16081310|PMID:16199547|PMID:16434418|PMID:17576681|PMID:18414213|PMID:20020533|PMID:20691407|PMID:21376300|PMID:21384162|PMID:21487076|PMID:21820098|PMID:22258533|PMID:24088041|PMID:24715439|PMID:25140959|PMID:25253658|PMID:25265257|PMID:25326635|PMID:25533962|PMID:25585697|PMID:25640679|PMID:25741868|PMID:26077850|PMID:26125038|PMID:26350204|PMID:26354034|PMID:26410750|PMID:26467025|PMID:26486474|PMID:26633545|PMID:26752160|PMID:26994895|PMID:27034427|PMID:27124789|PMID:27146152|PMID:27681307|PMID:28106320|PMID:28333917|PMID:28362824|PMID:28492532|PMID:28554332|PMID:28708303|PMID:28832565|PMID:28834584|PMID:28970574|PMID:29159194|PMID:29590070|PMID:29915382|PMID:29934652|PMID:30144970|PMID:30385166|PMID:30564185|PMID:30848064|PMID:31227335|PMID:31455732|PMID:31488895|PMID:31616253|PMID:31628766|PMID:31785789|PMID:31796088|PMID:31805580|PMID:31813911|PMID:32096284|PMID:32165824|PMID:32746806|PMID:32860008|PMID:32935419|PMID:33753861|PMID:33880452|PMID:34354735|PMID:34487232|PMID:34782662|PMID:9536098 11706823 KIF1A kinesin family member 1A gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1312759 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11706823 KIF1A kinesin family member 1A gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1312759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 11706823 KIF1A kinesin family member 1A gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1312759 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11706823 KIF1A kinesin family member 1A gene DOID:1059 intellectual disability ISO RGD:1312759 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26077850|PMID:26467025|PMID:28492532 11706823 KIF1A kinesin family member 1A gene DOID:12849 autistic disorder ISO RGD:1312759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30559488 11706823 KIF1A kinesin family member 1A gene DOID:1826 epilepsy ISO RGD:1312759 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11706823 KIF1A kinesin family member 1A gene DOID:2476 hereditary spastic paraplegia ISO RGD:1312759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:21376300|PMID:25265257|PMID:25585697|PMID:25741868|PMID:26077850|PMID:26125038|PMID:26354034|PMID:26410750|PMID:26467025|PMID:27034427|PMID:27681307|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28970574|PMID:29159194|PMID:29590070|PMID:31488895|PMID:32096284|PMID:32860008 11706823 KIF1A kinesin family member 1A gene DOID:2476 hereditary spastic paraplegia ISO RGD:1312759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:21376300|PMID:25265257|PMID:25585697|PMID:25741868|PMID:26077850|PMID:26125038|PMID:26354034|PMID:26410750|PMID:26467025|PMID:27034427|PMID:27681307|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28970574|PMID:29159194|PMID:29590070|PMID:31488895|PMID:31796088|PMID:32096284|PMID:32860008|PMID:33880452 11706823 KIF1A kinesin family member 1A gene DOID:2785 Dandy-Walker syndrome ISO RGD:1312759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:25741868 11706823 KIF1A kinesin family member 1A gene DOID:607 paraplegia ISO RGD:1312759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:17576681|PMID:24088041|PMID:25265257|PMID:25326635|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:26633545|PMID:28492532|PMID:28554332|PMID:28834584|PMID:32935419|PMID:33880452|PMID:9536098 11706823 KIF1A kinesin family member 1A gene DOID:630 genetic disease ISO RGD:1312759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:21376300|PMID:25209998|PMID:25265257|PMID:25533962|PMID:25741868|PMID:25975756|PMID:26125038|PMID:26350204|PMID:26354034|PMID:26467025|PMID:26486474|PMID:27034427|PMID:27146152|PMID:27681307|PMID:28106320|PMID:28333917|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28970574|PMID:29589274|PMID:29590070|PMID:29915382|PMID:30564185|PMID:31488895|PMID:31628766|PMID:31805580|PMID:32096284|PMID:32860008|PMID:33880452|PMID:9536098 11706823 KIF1A kinesin family member 1A gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1312759 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11706823 KIF1A kinesin family member 1A gene DOID:9005219 Abnormal Reflexes ISO RGD:1312759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperreflexia PMID:25741868|PMID:28492532|PMID:31488895 11706823 KIF1A kinesin family member 1A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1304996 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:23776493|REF_RGD_ID:11059542 11706823 KIF1A kinesin family member 1A gene DOID:9008086 Developmental Disabilities ISO RGD:1312759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30559488 11706823 KIF1A kinesin family member 1A gene DOID:9008582 Developmental Disease ISO RGD:1312759 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11706823 KIF1A kinesin family member 1A gene DOID:9351 diabetes mellitus ISO RGD:1312759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23776493 11706889 FAM110C family with sequence similarity 110 member C gene DOID:630 genetic disease ISO RGD:1606851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11706943 LOC103786029 myosin-4 gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:1323747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 11706943 LOC103786029 myosin-4 gene DOID:11446 sciatic neuropathy treatment ISO RGD:3139 D RGD:9068941 20220915 RGD PMID:14973145|REF_RGD_ID:9686059 11706943 LOC103786029 myosin-4 gene DOID:630 genetic disease ISO RGD:1323747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11706943 LOC103786029 myosin-4 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3139 D RGD:9068941 20220915 RGD associated with Heart Failure;protein:decreased expression:diaphragm PMID:25060722|REF_RGD_ID:9686065 11707015 ATP5F1B ATP synthase F1 subunit beta gene DOID:0050700 cardiomyopathy treatment ISO RGD:621368 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (rat) PMID:17229387|REF_RGD_ID:13792652 11707015 ATP5F1B ATP synthase F1 subunit beta gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:1344847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 11707015 ATP5F1B ATP synthase F1 subunit beta gene DOID:0060071 pre-malignant neoplasm ISO RGD:1344847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11707015 ATP5F1B ATP synthase F1 subunit beta gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1557957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25666834 11707015 ATP5F1B ATP synthase F1 subunit beta gene DOID:0080600 COVID-19 ISO RGD:1344847 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11707015 ATP5F1B ATP synthase F1 subunit beta gene DOID:11612 polycystic ovary syndrome ISO RGD:621368 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:pancreas (rat) PMID:28397049|REF_RGD_ID:13703107 11707015 ATP5F1B ATP synthase F1 subunit beta gene DOID:224 transient cerebral ischemia ISO RGD:621368 D RGD:9068941 20200609 RGD protein:increased expression:cerebrum (rat) PMID:21950801|REF_RGD_ID:13792582 11707015 ATP5F1B ATP synthase F1 subunit beta gene DOID:3021 acute kidney failure ISO RGD:1344847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25666834 11707015 ATP5F1B ATP synthase F1 subunit beta gene DOID:3021 acute kidney failure ISO RGD:1557957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25666834 11707015 ATP5F1B ATP synthase F1 subunit beta gene DOID:630 genetic disease ISO RGD:1344847 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707015 ATP5F1B ATP synthase F1 subunit beta gene DOID:9000188 HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2 ISO RGD:1344847 D RGD:7240710 20221123 OMIM 11707015 ATP5F1B ATP synthase F1 subunit beta gene DOID:9000188 HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2 ISO RGD:1344847 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 PMID:36239646 11707015 ATP5F1B ATP synthase F1 subunit beta gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:621368 D RGD:9068941 20200609 RGD mRNA:decreased expression:renal glomerulus (rat) PMID:22591908|REF_RGD_ID:13792578 11707015 ATP5F1B ATP synthase F1 subunit beta gene DOID:9002231 Fetal Growth Retardation ISO RGD:621368 D RGD:9068941 20200609 RGD protein:decreased expression:liver (rat) PMID:26342040|REF_RGD_ID:13782135 11707015 ATP5F1B ATP synthase F1 subunit beta gene DOID:9002669 Hypoxia ISO RGD:1344847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 11707015 ATP5F1B ATP synthase F1 subunit beta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621368 D RGD:9068941 20200609 RGD associated with polycystic ovary syndrome;mRNA, protein:decreased expression:pancreas (rat) PMID:28397049|REF_RGD_ID:13703107 11707015 ATP5F1B ATP synthase F1 subunit beta gene DOID:9007591 Hypermetabolism due to Defect in Mitochondria ISO RGD:1344847 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Hypermetabolism due to Defect in Mitochondrial Coupling PMID:36239646 11707015 ATP5F1B ATP synthase F1 subunit beta gene DOID:9008691 Liver Injury ISO RGD:621368 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:25772430|REF_RGD_ID:13800895 11707015 ATP5F1B ATP synthase F1 subunit beta gene DOID:9352 type 2 diabetes mellitus ISO RGD:621368 D RGD:9068941 20200609 RGD protein:decreased expression:islet of Langerhans (rat) PMID:21117707|REF_RGD_ID:13792619 11707015 ATP5F1B ATP synthase F1 subunit beta gene DOID:9970 obesity treatment ISO RGD:621368 D RGD:9068941 20200609 RGD PMID:26880535|REF_RGD_ID:13782133 11707030 AKT3 AKT serine/threonine kinase 3 gene DOID:0050576 Senior-Loken syndrome ISO RGD:735623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia 11707030 AKT3 AKT serine/threonine kinase 3 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:735623 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11707030 AKT3 AKT serine/threonine kinase 3 gene DOID:0080600 COVID-19 ISO RGD:735623 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11707030 AKT3 AKT serine/threonine kinase 3 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:735623 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22729223 11707030 AKT3 AKT serine/threonine kinase 3 gene DOID:0110138 Bardet-Biedl syndrome 16 ISO RGD:735623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 PMID:28492532 11707030 AKT3 AKT serine/threonine kinase 3 gene DOID:10283 prostate cancer severity ISO RGD:735623 D RGD:9068941 20200609 RGD DNA:SNP: :rs2125230 (human) PMID:22546513|REF_RGD_ID:13504678 11707030 AKT3 AKT serine/threonine kinase 3 gene DOID:11372 megacolon ISO RGD:735623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11707030 AKT3 AKT serine/threonine kinase 3 gene DOID:1540 parathyroid carcinoma ISO RGD:735623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11707030 AKT3 AKT serine/threonine kinase 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:735623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 11707030 AKT3 AKT serine/threonine kinase 3 gene DOID:219 colon cancer treatment ISO RGD:735623 D RGD:9068941 20200609 RGD PMID:20811704|REF_RGD_ID:13209140 11707030 AKT3 AKT serine/threonine kinase 3 gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:735623 D RGD:9068941 20200609 RGD PMID:20638364|REF_RGD_ID:13504677 11707030 AKT3 AKT serine/threonine kinase 3 gene DOID:3068 glioblastoma disease_progression ISO RGD:735623 D RGD:9068941 20200609 RGD PMID:27422127|REF_RGD_ID:13674164 11707030 AKT3 AKT serine/threonine kinase 3 gene DOID:3069 malignant astrocytoma severity ISO RGD:735623 D RGD:9068941 20200609 RGD PMID:20167810|REF_RGD_ID:13674163 11707030 AKT3 AKT serine/threonine kinase 3 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735623 D RGD:9068941 20200609 RGD PMID:19846969|REF_RGD_ID:13432583 11707030 AKT3 AKT serine/threonine kinase 3 gene DOID:4074 pancreatic adenocarcinoma severity ISO RGD:735623 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (human) PMID:27919956|REF_RGD_ID:13451128 11707030 AKT3 AKT serine/threonine kinase 3 gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:735623 D RGD:9068941 20200609 RGD DNA:missense mutation:exon, intron:multiple PMID:23378641|REF_RGD_ID:13503319 11707030 AKT3 AKT serine/threonine kinase 3 gene DOID:630 genetic disease ISO RGD:735623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22729224|PMID:23745724|PMID:24705253|PMID:25741868|PMID:28492532|PMID:28969385|PMID:29286531|PMID:33176815 11707030 AKT3 AKT serine/threonine kinase 3 gene DOID:9002186 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 ISO RGD:735623 D RGD:7240710 20180130 OMIM 11707030 AKT3 AKT serine/threonine kinase 3 gene DOID:9002186 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 ISO RGD:735623 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 PMID:17576681|PMID:18813315|PMID:22500628|PMID:22729223|PMID:22729224|PMID:23745724|PMID:24705253|PMID:25087610|PMID:25416470|PMID:25523067|PMID:25741868|PMID:28086757|PMID:28492532|PMID:28969385|PMID:29286531|PMID:31471318|PMID:33176815|PMID:34170046|PMID:9536098 11707030 AKT3 AKT serine/threonine kinase 3 gene DOID:9002403 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome ISO RGD:735623 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22729224 11707030 AKT3 AKT serine/threonine kinase 3 gene DOID:9002647 Megalencephaly - Cutis Marmorata Telangiectatica Congenita ISO RGD:735623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megalencephaly-capillary malformation-polymicrogyria syndrome PMID:22729224|PMID:23745724|PMID:25416470|PMID:25523067|PMID:28086757 11707030 AKT3 AKT serine/threonine kinase 3 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:735623 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:17576681|PMID:20835237|PMID:22190896|PMID:25640679|PMID:25741868|PMID:28492532|PMID:9536098 11707030 AKT3 AKT serine/threonine kinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11707030 AKT3 AKT serine/threonine kinase 3 gene DOID:9008086 Developmental Disabilities ISO RGD:735623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22729224|PMID:23745724|PMID:24705253|PMID:25741868|PMID:28492532|PMID:28969385|PMID:29286531|PMID:33176815 11707030 AKT3 AKT serine/threonine kinase 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11707047 CCDC28A coiled-coil domain containing 28A gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1351078 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 11707047 CCDC28A coiled-coil domain containing 28A gene DOID:2661 myoepithelioma ISO RGD:1351078 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11707047 CCDC28A coiled-coil domain containing 28A gene DOID:630 genetic disease ISO RGD:1351078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707057 TMEM179 transmembrane protein 179 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1346739 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11707064 NUDT2 nudix hydrolase 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1352613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11707064 NUDT2 nudix hydrolase 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1352613 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11707064 NUDT2 nudix hydrolase 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1352613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11707064 NUDT2 nudix hydrolase 2 gene DOID:1059 intellectual disability ISO RGD:1352613 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:27431290|PMID:30059600|PMID:33058507 11707064 NUDT2 nudix hydrolase 2 gene DOID:630 genetic disease ISO RGD:1352613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707064 NUDT2 nudix hydrolase 2 gene DOID:9000579 INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY ISO RGD:1352613 D RGD:7240710 20220629 OMIM 11707064 NUDT2 nudix hydrolase 2 gene DOID:9000579 INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY ISO RGD:1352613 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with or without peripheral neuropathy PMID:25741868|PMID:27431290|PMID:30059600|PMID:33058507 11707064 NUDT2 nudix hydrolase 2 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1352613 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:25741868|PMID:27431290|PMID:30059600|PMID:33058507 11707064 NUDT2 nudix hydrolase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1352613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20533549 11707064 NUDT2 nudix hydrolase 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11707064 NUDT2 nudix hydrolase 2 gene DOID:9870 galactosemia ISO RGD:1352613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11707089 STOX2 storkhead box 2 gene DOID:630 genetic disease ISO RGD:1601982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707106 ANKH ANKH inorganic pyrophosphate transport regulator gene DOID:0080033 craniometaphyseal dysplasia ISO RGD:734406 D RGD:9068941 20220825 MouseDO OMIM:122860 | OMIM:123000 | OMIM:218300 | OMIM:218400 | OMIM:614099 | OMIM:614378 11707106 ANKH ANKH inorganic pyrophosphate transport regulator gene DOID:0080801 autosomal dominant craniometaphyseal dysplasia ISO RGD:734405 D RGD:7240710 20180130 OMIM 11707106 ANKH ANKH inorganic pyrophosphate transport regulator gene DOID:0080801 autosomal dominant craniometaphyseal dysplasia ISO RGD:734405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant PMID:11326272|PMID:11326338|PMID:19449425|PMID:20358596|PMID:25741868|PMID:26467025|PMID:2712793|PMID:28492532 11707106 ANKH ANKH inorganic pyrophosphate transport regulator gene DOID:1059 intellectual disability ISO RGD:734405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11707106 ANKH ANKH inorganic pyrophosphate transport regulator gene DOID:1156 chondrocalcinosis ISO RGD:734405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chondrocalcinosis 11707106 ANKH ANKH inorganic pyrophosphate transport regulator gene DOID:11832 visual epilepsy ISO RGD:619925 D RGD:9068941 20200609 RGD PMID:12861042|REF_RGD_ID:634632 11707106 ANKH ANKH inorganic pyrophosphate transport regulator gene DOID:289 endometriosis ISO RGD:734405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11707106 ANKH ANKH inorganic pyrophosphate transport regulator gene DOID:630 genetic disease ISO RGD:734405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11707106 ANKH ANKH inorganic pyrophosphate transport regulator gene DOID:848 arthritis ISO RGD:734406 D RGD:9068941 20200609 RGD PMID:10894769|REF_RGD_ID:734569 11707106 ANKH ANKH inorganic pyrophosphate transport regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11707106 ANKH ANKH inorganic pyrophosphate transport regulator gene DOID:9006590 Chondrocalcinosis 2 ISO RGD:734405 D RGD:7240710 20180130 OMIM 11707106 ANKH ANKH inorganic pyrophosphate transport regulator gene DOID:9006590 Chondrocalcinosis 2 ISO RGD:734405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chondrocalcinosis 2 PMID:11326272|PMID:12297987|PMID:12297989|PMID:13130483|PMID:19449425|PMID:25741868|PMID:26467025|PMID:2712793|PMID:28492532|PMID:32860008|PMID:8528213|PMID:9915952 11707106 ANKH ANKH inorganic pyrophosphate transport regulator gene DOID:9008731 Craniofacial Abnormalities ISO RGD:734405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18027777 11707106 ANKH ANKH inorganic pyrophosphate transport regulator gene DOID:9009007 Tooth Abnormalities ISO RGD:734405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18027777 11707123 MPC1L mitochondrial pyruvate carrier 1 like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:6892656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11707123 MPC1L mitochondrial pyruvate carrier 1 like gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:6892656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 11707123 MPC1L mitochondrial pyruvate carrier 1 like gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:6892656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 11707123 MPC1L mitochondrial pyruvate carrier 1 like gene DOID:12849 autistic disorder ISO RGD:6892656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11707123 MPC1L mitochondrial pyruvate carrier 1 like gene DOID:630 genetic disease ISO RGD:6892656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707123 MPC1L mitochondrial pyruvate carrier 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:6892656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11707123 MPC1L mitochondrial pyruvate carrier 1 like gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:6892656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 11707128 FDXR ferredoxin reductase gene DOID:630 genetic disease ISO RGD:734233 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28965846|PMID:29040572|PMID:30250212|PMID:6766943 11707128 FDXR ferredoxin reductase gene DOID:9000729 OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME ISO RGD:734233 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome PMID:25741868|PMID:30250212 11707128 FDXR ferredoxin reductase gene DOID:9003451 Auditory Neuropathy and Optic Atrophy ISO RGD:734233 D RGD:7240710 20190315 OMIM 11707128 FDXR ferredoxin reductase gene DOID:9003451 Auditory Neuropathy and Optic Atrophy ISO RGD:734233 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: AUDITORY NEUROPATHY AND OPTIC ATROPHY PMID:24033266|PMID:25741868|PMID:28965846|PMID:29040572|PMID:30250212|PMID:6766943 11707166 ACSS1 acyl-CoA synthetase short chain family member 1 gene DOID:630 genetic disease ISO RGD:1314754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707166 ACSS1 acyl-CoA synthetase short chain family member 1 gene DOID:9002395 Hypothermia ISO RGD:1615097 D RGD:9068941 20200609 RGD PMID:19187775|REF_RGD_ID:13831305 11707166 ACSS1 acyl-CoA synthetase short chain family member 1 gene DOID:9004118 Experimental Melanoma treatment ISO RGD:1314754 D RGD:9068941 20200609 RGD PMID:27539851|REF_RGD_ID:13831304 11707182 LRFN1 leucine rich repeat and fibronectin type III domain containing 1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1312309 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11707182 LRFN1 leucine rich repeat and fibronectin type III domain containing 1 gene DOID:630 genetic disease ISO RGD:1312309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707182 LRFN1 leucine rich repeat and fibronectin type III domain containing 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1312309 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11707193 SHANK1 SH3 and multiple ankyrin repeat domains 1 gene DOID:1059 intellectual disability ISO RGD:734100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11707193 SHANK1 SH3 and multiple ankyrin repeat domains 1 gene DOID:12849 autistic disorder ISO RGD:734100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18272690 11707193 SHANK1 SH3 and multiple ankyrin repeat domains 1 gene DOID:2030 anxiety disorder ISO RGD:734100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18272690 11707193 SHANK1 SH3 and multiple ankyrin repeat domains 1 gene DOID:4450 renal cell carcinoma ISO RGD:734100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 11707193 SHANK1 SH3 and multiple ankyrin repeat domains 1 gene DOID:630 genetic disease ISO RGD:734100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707193 SHANK1 SH3 and multiple ankyrin repeat domains 1 gene DOID:9008086 Developmental Disabilities ISO RGD:734100 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11707193 SHANK1 SH3 and multiple ankyrin repeat domains 1 gene DOID:9923 developmental coordination disorder ISO RGD:734100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20868654 11707222 FIGN fidgetin, microtubule severing factor gene DOID:12849 autistic disorder ISO RGD:1317798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 11707222 FIGN fidgetin, microtubule severing factor gene DOID:630 genetic disease ISO RGD:1317798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707222 FIGN fidgetin, microtubule severing factor gene DOID:9008582 Developmental Disease ISO RGD:1317798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11707231 MID2 midline 2 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1602493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 11707231 MID2 midline 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11707231 MID2 midline 2 gene DOID:0070068 autosomal dominant intellectual developmental disorder 38 ISO RGD:1602493 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 38 PMID:25741868 11707231 MID2 midline 2 gene DOID:0112048 non-syndromic X-linked intellectual disability 101 ISO RGD:1602493 D RGD:7240710 20180130 OMIM 11707231 MID2 midline 2 gene DOID:0112048 non-syndromic X-linked intellectual disability 101 ISO RGD:1602493 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked 101 PMID:24115387|PMID:25741868 11707231 MID2 midline 2 gene DOID:10485 esophageal atresia ISO RGD:1602493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 11707231 MID2 midline 2 gene DOID:12849 autistic disorder ISO RGD:1602493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11707231 MID2 midline 2 gene DOID:630 genetic disease ISO RGD:1602493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11707247 EPHA7 EPH receptor A7 gene DOID:5409 lung small cell carcinoma ISO RGD:732959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941188 11707247 EPHA7 EPH receptor A7 gene DOID:630 genetic disease ISO RGD:732959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707247 EPHA7 EPH receptor A7 gene DOID:9000039 Spinal Cord Injuries ISO RGD:70957 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:16983667|REF_RGD_ID:2301957 11707247 EPHA7 EPH receptor A7 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:732959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30357299 11707247 EPHA7 EPH receptor A7 gene DOID:9008217 Hemorrhage ISO RGD:732959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30357299 11707273 NAA40 N-alpha-acetyltransferase 40, NatD catalytic subunit gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11707273 NAA40 N-alpha-acetyltransferase 40, NatD catalytic subunit gene DOID:1059 intellectual disability ISO RGD:1602685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11707273 NAA40 N-alpha-acetyltransferase 40, NatD catalytic subunit gene DOID:3070 high grade glioma ISO RGD:1602685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11707273 NAA40 N-alpha-acetyltransferase 40, NatD catalytic subunit gene DOID:630 genetic disease ISO RGD:1602685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707290 BDH2 3-hydroxybutyrate dehydrogenase 2 gene DOID:3633 beta-mannosidosis ISO RGD:1604606 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 11707290 BDH2 3-hydroxybutyrate dehydrogenase 2 gene DOID:630 genetic disease ISO RGD:1604606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707315 CLCN1 chloride voltage-gated channel 1 gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:734112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant intermediate Charcot-Marie-Tooth disease PMID:17932099|PMID:18337100|PMID:18337730|PMID:22094069|PMID:22649220|PMID:23739125|PMID:23893571|PMID:24349310|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7581380|PMID:7951215|PMID:8533761|PMID:8571958 11707315 CLCN1 chloride voltage-gated channel 1 gene DOID:0080000 muscular disease ISO RGD:734112 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:10430417|PMID:10644771|PMID:10665666|PMID:11840191|PMID:11933197|PMID:12390967|PMID:15162127|PMID:15980168|PMID:17107341|PMID:17932099|PMID:17990293|PMID:18263754|PMID:18337100|PMID:18337730|PMID:18807109|PMID:20301529|PMID:22094069|PMID:22197187|PMID:22995991|PMID:23097607|PMID:23152584|PMID:23739125|PMID:23893571|PMID:24033266|PMID:24349310|PMID:25741868|PMID:26096614|PMID:26467025|PMID:27142102|PMID:27296017|PMID:27614575|PMID:28492532|PMID:29606556|PMID:34008892|PMID:7874130|PMID:8533761|PMID:8571958|PMID:8845168|PMID:8857727|PMID:8857733|PMID:9566422 11707315 CLCN1 chloride voltage-gated channel 1 gene DOID:0080100 congenital myopathy ISO RGD:734112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Batten-Turner congenital myopathy PMID:10051520|PMID:10215406|PMID:10430417|PMID:10467912|PMID:10533075|PMID:10644771|PMID:10665666|PMID:10690989|PMID:10737121|PMID:10962018|PMID:11113225|PMID:11408615|PMID:11840191|PMID:11933197|PMID:12163078|PMID:12390967|PMID:12456816|PMID:12566541|PMID:12661046|PMID:14639587|PMID:15162127|PMID:15241802|PMID:15311340|PMID:15786415|PMID:15980168|PMID:16027167|PMID:16199547|PMID:16629771|PMID:16770776|PMID:17097617|PMID:17107341|PMID:17654559|PMID:17932099|PMID:17990293|PMID:18035046|PMID:18220014|PMID:18263754|PMID:18337100|PMID:18337730|PMID:18807109|PMID:19949657|PMID:20301529|PMID:21221019|PMID:21387378|PMID:21698652|PMID:22094069|PMID:22109722|PMID:22197187|PMID:22407275|PMID:22521272|PMID:22641783|PMID:22649220|PMID:22995991|PMID:23097607|PMID:23113340|PMID:23152584|PMID:23408874|PMID:23417379|PMID:23424641|PMID:23516313|PMID:23739125|PMID:23893571|PMID:23933576|PMID:24033266|PMID:24037712|PMID:24064982|PMID:24088041|PMID:24304580|PMID:24349310|PMID:24452722|PMID:24530047|PMID:24625573|PMID:24920213|PMID:25036107|PMID:25065301|PMID:25088311|PMID:25438602|PMID:25741868|PMID:25749817|PMID:25852444|PMID:26021757|PMID:26036855|PMID:26096614|PMID:26260254|PMID:26467025|PMID:26510092|PMID:26633545|PMID:27066551|PMID:27098784|PMID:27142102|PMID:27199537|PMID:27266866|PMID:27296017|PMID:27415035|PMID:27580824|PMID:27614575|PMID:28427807|PMID:28492532|PMID:28993909|PMID:29606556|PMID:31054297|PMID:31216405|PMID:31544778|PMID:31567646|PMID:31692161|PMID:32117024|PMID:32660787|PMID:32670189|PMID:33263785|PMID:34008892|PMID:34106991|PMID:758138|PMID:7581380|PMID:7874130|PMID:7951215|PMID:7981750|PMID:8112288|PMID:8533761|PMID:8571958|PMID:8845168|PMID:8857727|PMID:8857733|PMID:9040658|PMID:9122265|PMID:9158157|PMID:9566422|PMID:9736777 11707315 CLCN1 chloride voltage-gated channel 1 gene DOID:12932 endomyocardial fibrosis ISO RGD:734112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Becker's disease PMID:10360989|PMID:10430417|PMID:10644771|PMID:10665666|PMID:10690989|PMID:11840191|PMID:11933197|PMID:12390967|PMID:1379744|PMID:15162127|PMID:15980168|PMID:16770776|PMID:17107341|PMID:17576681|PMID:17654559|PMID:17932099|PMID:17990293|PMID:18263754|PMID:18337100|PMID:18337730|PMID:18807109|PMID:20301529|PMID:21204798|PMID:21221019|PMID:21698652|PMID:22094069|PMID:22109722|PMID:22197187|PMID:22407275|PMID:22521272|PMID:22641783|PMID:22995991|PMID:23097607|PMID:23113340|PMID:23152584|PMID:23739125|PMID:23893571|PMID:23933576|PMID:24033266|PMID:24037712|PMID:24088041|PMID:24304580|PMID:24349310|PMID:24452722|PMID:25741868|PMID:26096614|PMID:26467025|PMID:26510092|PMID:26633545|PMID:27142102|PMID:27199537|PMID:27266866|PMID:27296017|PMID:27614575|PMID:28325641|PMID:28427807|PMID:28492532|PMID:28993909|PMID:29050397|PMID:29606556|PMID:29790872|PMID:32117024|PMID:32670189|PMID:34008892|PMID:34106991|PMID:7874130|PMID:8301644|PMID:8533761|PMID:8571958|PMID:8845168|PMID:8857727|PMID:8857733|PMID:9040760|PMID:9536098|PMID:9566422 11707315 CLCN1 chloride voltage-gated channel 1 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:734112 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis 11707315 CLCN1 chloride voltage-gated channel 1 gene DOID:14692 Smith-Lemli-Opitz syndrome ISO RGD:734112 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome PMID:12390967|PMID:15786415|PMID:17932099|PMID:18337100|PMID:18337730|PMID:18816629|PMID:21387378|PMID:22094069|PMID:22649220|PMID:23739125|PMID:23893571|PMID:24037712|PMID:24349310|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28662944|PMID:29606556|PMID:7581380|PMID:7951215|PMID:8533761|PMID:8571958|PMID:9736777 11707315 CLCN1 chloride voltage-gated channel 1 gene DOID:1969 cerebral palsy ISO RGD:734112 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:10430417|PMID:10644771|PMID:10665666|PMID:11840191|PMID:11933197|PMID:12390967|PMID:15162127|PMID:15980168|PMID:17107341|PMID:17932099|PMID:17990293|PMID:18263754|PMID:18337100|PMID:18337730|PMID:18807109|PMID:20301529|PMID:22094069|PMID:22197187|PMID:22995991|PMID:23097607|PMID:23152584|PMID:23739125|PMID:23893571|PMID:24033266|PMID:24349310|PMID:25741868|PMID:26096614|PMID:26467025|PMID:27142102|PMID:27296017|PMID:27614575|PMID:28492532|PMID:29606556|PMID:34008892|PMID:7874130|PMID:8533761|PMID:8571958|PMID:8845168|PMID:8857727|PMID:8857733|PMID:9566422 11707315 CLCN1 chloride voltage-gated channel 1 gene DOID:2106 myotonia congenita ISO RGD:734112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myotonia generalized | ClinVar Annotator: match by term: Myotonia levior PMID:10360989|PMID:10430417|PMID:10644771|PMID:10665666|PMID:10690989|PMID:11840191|PMID:11933197|PMID:12390967|PMID:12456816|PMID:1379744|PMID:15162127|PMID:15786415|PMID:15980168|PMID:16770776|PMID:17107341|PMID:17576681|PMID:17654559|PMID:17932099|PMID:17990293|PMID:18263754|PMID:18337100|PMID:18337730|PMID:18807109|PMID:20301529|PMID:21204798|PMID:21221019|PMID:21698652|PMID:22094069|PMID:22109722|PMID:22197187|PMID:22407275|PMID:22521272|PMID:22641783|PMID:22995991|PMID:23097607|PMID:23113340|PMID:23152584|PMID:23739125|PMID:23893571|PMID:23933576|PMID:24033266|PMID:24037712|PMID:24088041|PMID:24304580|PMID:24349310|PMID:24452722|PMID:25741868|PMID:26096614|PMID:26467025|PMID:26510092|PMID:26633545|PMID:27142102|PMID:27199537|PMID:27266866|PMID:27296017|PMID:27614575|PMID:28325641|PMID:28427807|PMID:28492532|PMID:28993909|PMID:29050397|PMID:29606556|PMID:29790872|PMID:32117024|PMID:32670189|PMID:33263785|PMID:34008892|PMID:34106991|PMID:7581380|PMID:7874130|PMID:8301644|PMID:8533761|PMID:8571958|PMID:8845168|PMID:8857727|PMID:8857733|PMID:9040760|PMID:9536098|PMID:9566422|PMID:9736777 11707315 CLCN1 chloride voltage-gated channel 1 gene DOID:423 myopathy ISO RGD:734112 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Myopathy PMID:10430417|PMID:10644771|PMID:10665666|PMID:11840191|PMID:11933197|PMID:12390967|PMID:15162127|PMID:15980168|PMID:17107341|PMID:17932099|PMID:17990293|PMID:18263754|PMID:18337100|PMID:18337730|PMID:18807109|PMID:20301529|PMID:22094069|PMID:22197187|PMID:22995991|PMID:23097607|PMID:23152584|PMID:23739125|PMID:23893571|PMID:24033266|PMID:24349310|PMID:25741868|PMID:26096614|PMID:26467025|PMID:27142102|PMID:27296017|PMID:27614575|PMID:28492532|PMID:29606556|PMID:34008892|PMID:7874130|PMID:8533761|PMID:8571958|PMID:8845168|PMID:8857727|PMID:8857733|PMID:9566422 11707315 CLCN1 chloride voltage-gated channel 1 gene DOID:630 genetic disease ISO RGD:734112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23810313|PMID:25741868|PMID:26467025|PMID:26502825|PMID:28492532|PMID:31567646 11707315 CLCN1 chloride voltage-gated channel 1 gene DOID:6364 migraine ISO RGD:734112 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Migraine PMID:10737121|PMID:12163078|PMID:20301529|PMID:25741868|PMID:25749817|PMID:26467025|PMID:28492532|PMID:29606556|PMID:8533761|PMID:8845168 11707315 CLCN1 chloride voltage-gated channel 1 gene DOID:9001336 Myotonia Congenita, Autosomal Dominant ISO RGD:734112 D RGD:7240710 20180130 OMIM 11707315 CLCN1 chloride voltage-gated channel 1 gene DOID:9001336 Myotonia Congenita, Autosomal Dominant ISO RGD:734112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form | ClinVar Annotator: match by term: Thomsen's disease PMID:10051520|PMID:10360989|PMID:10430417|PMID:10467912|PMID:10533075|PMID:10644771|PMID:10665666|PMID:10690989|PMID:10737121|PMID:10962018|PMID:11408615|PMID:11840191|PMID:11933197|PMID:12163078|PMID:12390967|PMID:12456816|PMID:12566541|PMID:12661046|PMID:12699527|PMID:1379744|PMID:14639587|PMID:15116370|PMID:15162127|PMID:15786415|PMID:15980168|PMID:16199547|PMID:16321142|PMID:16770776|PMID:17107341|PMID:17576681|PMID:17654559|PMID:17717708|PMID:17932099|PMID:17990293|PMID:18220014|PMID:18263754|PMID:18337100|PMID:18337730|PMID:18624224|PMID:18807109|PMID:19949657|PMID:20301529|PMID:21045501|PMID:21204798|PMID:21221019|PMID:21698652|PMID:22094069|PMID:22109722|PMID:22197187|PMID:22407275|PMID:22521272|PMID:22641783|PMID:22649220|PMID:22995991|PMID:23097607|PMID:23113340|PMID:23152584|PMID:23516313|PMID:23603549|PMID:23739125|PMID:23810313|PMID:23893571|PMID:23933576|PMID:24033266|PMID:24037712|PMID:24064982|PMID:24088041|PMID:24304580|PMID:24349310|PMID:24452722|PMID:24515601|PMID:24625573|PMID:24920213|PMID:25036107|PMID:25088311|PMID:25741868|PMID:25749817|PMID:26096614|PMID:26260254|PMID:26467025|PMID:26502825|PMID:26510092|PMID:26633545|PMID:27118449|PMID:27142102|PMID:27199537|PMID:27266866|PMID:27296017|PMID:27415035|PMID:27582597|PMID:27614575|PMID:28325641|PMID:28427807|PMID:28492532|PMID:28706458|PMID:28993909|PMID:29050397|PMID:29606556|PMID:29790872|PMID:29935101|PMID:31544778|PMID:31567646|PMID:31692161|PMID:32117024|PMID:32117034|PMID:32660787|PMID:32670189|PMID:33263785|PMID:34008892|PMID:34106991|PMID:758138|PMID:7581380|PMID:7874130|PMID:7951215|PMID:7981750|PMID:8112288|PMID:8301644|PMID:8533761|PMID:8571958|PMID:8845168|PMID:8857727|PMID:8857733|PMID:9040760|PMID:9122265|PMID:9158157|PMID:9536098|PMID:9566422|PMID:9736777 11707315 CLCN1 chloride voltage-gated channel 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:734112 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 11707315 CLCN1 chloride voltage-gated channel 1 gene DOID:9008993 Myotonia ISO RGD:734112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myotonia PMID:10051520|PMID:10690989|PMID:10962018|PMID:12390967|PMID:16321142|PMID:16770776|PMID:17654559|PMID:17932099|PMID:18337100|PMID:18337730|PMID:20301529|PMID:21221019|PMID:21698652|PMID:22094069|PMID:22109722|PMID:22407275|PMID:22521272|PMID:22641783|PMID:23113340|PMID:23739125|PMID:23933576|PMID:24037712|PMID:24088041|PMID:24304580|PMID:24349310|PMID:24452722|PMID:25036107|PMID:25741868|PMID:26467025|PMID:26510092|PMID:26633545|PMID:27199537|PMID:27266866|PMID:27614575|PMID:28427807|PMID:28492532|PMID:28993909|PMID:32117024|PMID:32670189|PMID:34106991|PMID:758138|PMID:7581380|PMID:7874130|PMID:8533761|PMID:8845168|PMID:8857727 11707315 CLCN1 chloride voltage-gated channel 1 gene DOID:9009057 Myotonia Congenita, Autosomal Recessive ISO RGD:734112 D RGD:7240710 20180130 OMIM 11707315 CLCN1 chloride voltage-gated channel 1 gene DOID:9009057 Myotonia Congenita, Autosomal Recessive ISO RGD:734112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar Annotator: match by term: Myotonia congenita autosomal recessive | ClinVar Annotator: match by term: Myotonia generalized PMID:10051520|PMID:10215406|PMID:10360989|PMID:10430417|PMID:10467912|PMID:10525982|PMID:10533075|PMID:10619717|PMID:10644771|PMID:10665666|PMID:10690989|PMID:10737121|PMID:10962018|PMID:11113225|PMID:11408615|PMID:11840191|PMID:11933197|PMID:12163078|PMID:12390967|PMID:12456816|PMID:12566541|PMID:12661046|PMID:12699527|PMID:1379744|PMID:14639587|PMID:14724190|PMID:15116370|PMID:15162127|PMID:15241802|PMID:15311340|PMID:15786415|PMID:15980168|PMID:16027167|PMID:16199547|PMID:16321142|PMID:16567465|PMID:16629771|PMID:16770776|PMID:17042925|PMID:17097617|PMID:17107341|PMID:17576681|PMID:17654559|PMID:17717708|PMID:17932099|PMID:17990293|PMID:18035046|PMID:18220014|PMID:18263754|PMID:18337100|PMID:18337730|PMID:18579381|PMID:18624224|PMID:18807109|PMID:18816629|PMID:19185184|PMID:19697366|PMID:19882638|PMID:19949657|PMID:20181190|PMID:20301529|PMID:20398785|PMID:21045501|PMID:21204798|PMID:21221019|PMID:21387378|PMID:21520333|PMID:21698652|PMID:22094069|PMID:22109722|PMID:22197187|PMID:22246887|PMID:22346025|PMID:22407275|PMID:22521272|PMID:22641783|PMID:22649220|PMID:22689570|PMID:22790975|PMID:22921319|PMID:22987687|PMID:22995991|PMID:23097607|PMID:23113340|PMID:23152584|PMID:23225051|PMID:23408874|PMID:23417379|PMID:23424641|PMID:23456831|PMID:23483815|PMID:23516313|PMID:23603549|PMID:23739125|PMID:23810313|PMID:23893571|PMID:23933576|PMID:24033266|PMID:24037712|PMID:24064982|PMID:24088041|PMID:24304580|PMID:24349310|PMID:24452722|PMID:24515601|PMID:24530047|PMID:24625573|PMID:24705798|PMID:24920213|PMID:25036107|PMID:25065301|PMID:25088311|PMID:25438602|PMID:25487368|PMID:25741868|PMID:25749817|PMID:25852444|PMID:26007199|PMID:26021757|PMID:26036855|PMID:26042048|PMID:26096614|PMID:26260254|PMID:26467025|PMID:26471370|PMID:26502825|PMID:26510092|PMID:26633545|PMID:27066551|PMID:27098784|PMID:27118449|PMID:27142102|PMID:27199537|PMID:27266866|PMID:27296017|PMID:27300293|PMID:27415035|PMID:27580824|PMID:27582597|PMID:27614575|PMID:27639085|PMID:27653901|PMID:27666773|PMID:27927941|PMID:28325641|PMID:28427807|PMID:28492532|PMID:28600779|PMID:28662944|PMID:28706458|PMID:28993909|PMID:29050397|PMID:29405036|PMID:29424939|PMID:29480456|PMID:29500929|PMID:29606556|PMID:29790872|PMID:29935101|PMID:30243293|PMID:31054297|PMID:31130284|PMID:31216405|PMID:31544778|PMID:31566103|PMID:31567646|PMID:31589614|PMID:31692161|PMID:31732390|PMID:31970219|PMID:32117024|PMID:32214227|PMID:32355288|PMID:32407401|PMID:32466254|PMID:32528171|PMID:32593548|PMID:32660787|PMID:32670189|PMID:32721234|PMID:33263785|PMID:33573884|PMID:34008892|PMID:34106991|PMID:34426522|PMID:34529042|PMID:35170402|PMID:758138|PMID:7581380|PMID:7874130|PMID:7951215|PMID:7951242|PMID:7981750|PMID:8112288|PMID:8301644|PMID:8533761|PMID:8571958|PMID:8845168|PMID:8857727|PMID:8857733|PMID:9040658|PMID:9040760|PMID:9122265|PMID:9158157|PMID:9536098|PMID:9566422|PMID:9703437|PMID:9736066|PMID:9736777 11707341 RTBDN retbindin gene DOID:0050990 episodic ataxia type 2 ISO RGD:1606213 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11707341 RTBDN retbindin gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1606213 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11707341 RTBDN retbindin gene DOID:0111254 glutaric acidemia I ISO RGD:1606213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11707341 RTBDN retbindin gene DOID:3413 alpha-mannosidosis ISO RGD:1606213 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11707341 RTBDN retbindin gene DOID:630 genetic disease ISO RGD:1606213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707341 RTBDN retbindin gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1606213 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 PMID:28492532 11707341 RTBDN retbindin gene DOID:9005834 Ependymomas ISO RGD:1606213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075792 11707371 NNMT nicotinamide N-methyltransferase gene DOID:1059 intellectual disability ISO RGD:1320034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11707371 NNMT nicotinamide N-methyltransferase gene DOID:4450 renal cell carcinoma ISO RGD:1320034 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:17070307|REF_RGD_ID:2299120 11707371 NNMT nicotinamide N-methyltransferase gene DOID:630 genetic disease ISO RGD:1320034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707371 NNMT nicotinamide N-methyltransferase gene DOID:684 hepatocellular carcinoma ISO RGD:1320034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11707371 NNMT nicotinamide N-methyltransferase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1320034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11707378 GINS1 GINS complex subunit 1 gene DOID:0111993 immunodeficiency 55 ISO RGD:1605108 D RGD:7240710 20190315 OMIM 11707378 GINS1 GINS complex subunit 1 gene DOID:0111993 immunodeficiency 55 ISO RGD:1605108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to GINS1 deficiency PMID:25741868|PMID:28414293|PMID:28492532|PMID:31630891 11707378 GINS1 GINS complex subunit 1 gene DOID:630 genetic disease ISO RGD:1605108 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11707378 GINS1 GINS complex subunit 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1605108 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11707389 PCDHB15 protocadherin beta 15 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1321168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11707389 PCDHB15 protocadherin beta 15 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321168 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11707389 PCDHB15 protocadherin beta 15 gene DOID:630 genetic disease ISO RGD:1321168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707389 PCDHB15 protocadherin beta 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11707389 PCDHB15 protocadherin beta 15 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321168 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11707394 PADI3 peptidyl arginine deiminase 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:732756 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11707394 PADI3 peptidyl arginine deiminase 3 gene DOID:630 genetic disease ISO RGD:732756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707394 PADI3 peptidyl arginine deiminase 3 gene DOID:9000619 Uncombable Hair Syndrome 1 ISO RGD:732756 D RGD:7240710 20220601 OMIM 11707394 PADI3 peptidyl arginine deiminase 3 gene DOID:9000619 Uncombable Hair Syndrome 1 ISO RGD:732756 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Uncombable hair syndrome 1 PMID:22381266|PMID:24629392|PMID:25741868|PMID:27866708|PMID:35279260 11707394 PADI3 peptidyl arginine deiminase 3 gene DOID:9005997 Uncombable Hair Syndrome ISO RGD:732756 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism 11707394 PADI3 peptidyl arginine deiminase 3 gene DOID:9007442 Central Centrifugal Cicatricial Alopecia ISO RGD:732756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central centrifugal cicatricial alopecia PMID:30763140 11707415 FOXO6 forkhead box O6 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:2292467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11707420 NANOG Nanog homeobox gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1347686 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11707420 NANOG Nanog homeobox gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1347686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11707420 NANOG Nanog homeobox gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1347686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11707420 NANOG Nanog homeobox gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1347686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11707420 NANOG Nanog homeobox gene DOID:0111621 Temtamy syndrome ISO RGD:1347686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11707420 NANOG Nanog homeobox gene DOID:14330 Parkinson's disease treatment ISO RGD:1553059 D RGD:9068941 20200609 RGD mouse gene in a rat model;mRNA, protein:increased expression:embryonic stem cell PMID:24954161|REF_RGD_ID:9681444 11707420 NANOG Nanog homeobox gene DOID:219 colon cancer treatment ISO RGD:1303178 D RGD:9068941 20200609 RGD PMID:22641368|REF_RGD_ID:7240527 11707420 NANOG Nanog homeobox gene DOID:3307 teratoma severity ISO RGD:1553059 D RGD:9068941 20200609 RGD mouse gene in a rat Myocardial Infarction model;protein:decreased expression:embryonic stem cell PMID:20817694|REF_RGD_ID:9681441 11707420 NANOG Nanog homeobox gene DOID:630 genetic disease ISO RGD:1347686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707420 NANOG Nanog homeobox gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1347686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16168501 11707420 NANOG Nanog homeobox gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1347686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29626521 11707420 NANOG Nanog homeobox gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1347686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11707428 TRA2B transformer 2 beta homolog gene DOID:0080600 COVID-19 ISO RGD:732515 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 11707428 TRA2B transformer 2 beta homolog gene DOID:4448 macular degeneration ISO RGD:732515 D RGD:9068941 20200609 RGD protein:increased expression:retina (human) PMID:24098751|REF_RGD_ID:11038792 11707428 TRA2B transformer 2 beta homolog gene DOID:630 genetic disease ISO RGD:732515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707428 TRA2B transformer 2 beta homolog gene DOID:678 progressive supranuclear palsy ISO RGD:732515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25402454 11707452 CLDN1 claudin 1 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:68422 D RGD:9068941 20200609 RGD mRNA:increased expression:distal colon (rat) PMID:31189495|REF_RGD_ID:26884351 11707452 CLDN1 claudin 1 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:68626 D RGD:9068941 20200609 RGD mRNA:increased expression:distal colon (rat) PMID:31189495|REF_RGD_ID:26884351 11707452 CLDN1 claudin 1 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:68627 D RGD:9068941 20200609 RGD mRNA:increased expression:distal colon (rat) PMID:31189495|REF_RGD_ID:26884351 11707452 CLDN1 claudin 1 gene DOID:1749 squamous cell carcinoma ISO RGD:68626 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:33665778 11707452 CLDN1 claudin 1 gene DOID:2773 contact dermatitis ISO RGD:68626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23136956 11707452 CLDN1 claudin 1 gene DOID:289 endometriosis ISO RGD:68626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11707452 CLDN1 claudin 1 gene DOID:3310 atopic dermatitis ISO RGD:68626 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:epidermis: PMID:21163515|REF_RGD_ID:11344875 11707452 CLDN1 claudin 1 gene DOID:5082 liver cirrhosis severity ISO RGD:68422 D RGD:9068941 20200609 RGD associated with hepatitis C, Chronic;mRNA,protein:increased expression:liver (human) PMID:21620107|REF_RGD_ID:26884347 11707452 CLDN1 claudin 1 gene DOID:5082 liver cirrhosis severity ISO RGD:68626 D RGD:9068941 20200609 RGD associated with hepatitis C, Chronic;mRNA,protein:increased expression:liver (human) PMID:21620107|REF_RGD_ID:26884347 11707452 CLDN1 claudin 1 gene DOID:5082 liver cirrhosis severity ISO RGD:68627 D RGD:9068941 20200609 RGD associated with hepatitis C, Chronic;mRNA,protein:increased expression:liver (human) PMID:21620107|REF_RGD_ID:26884347 11707452 CLDN1 claudin 1 gene DOID:5419 schizophrenia ISO RGD:68626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11707452 CLDN1 claudin 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:68626 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:33665778 11707452 CLDN1 claudin 1 gene DOID:630 genetic disease ISO RGD:68626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707452 CLDN1 claudin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:68422 D RGD:9068941 20200609 RGD associated with liver cirrhosis;protein:increased expression:liver (human) PMID:24696415|REF_RGD_ID:26884352 11707452 CLDN1 claudin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:68626 D RGD:9068941 20200609 RGD associated with liver cirrhosis;protein:increased expression:liver (human) PMID:24696415|REF_RGD_ID:26884352 11707452 CLDN1 claudin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:68627 D RGD:9068941 20200609 RGD associated with liver cirrhosis;protein:increased expression:liver (human) PMID:24696415|REF_RGD_ID:26884352 11707452 CLDN1 claudin 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:68422 D RGD:9068941 20200609 RGD protein:decreased expression:liver (human) PMID:17270214|REF_RGD_ID:26884348 11707452 CLDN1 claudin 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:68422 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:24815833|REF_RGD_ID:26884345 11707452 CLDN1 claudin 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:68626 D RGD:9068941 20200609 RGD protein:decreased expression:liver (human) PMID:17270214|REF_RGD_ID:26884348 11707452 CLDN1 claudin 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:68626 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:24815833|REF_RGD_ID:26884345 11707452 CLDN1 claudin 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:68627 D RGD:9068941 20200609 RGD protein:decreased expression:liver (human) PMID:17270214|REF_RGD_ID:26884348 11707452 CLDN1 claudin 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:68627 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:24815833|REF_RGD_ID:26884345 11707452 CLDN1 claudin 1 gene DOID:687 hepatoblastoma severity ISO RGD:68422 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver, embryonic tissue (human) PMID:16647953|REF_RGD_ID:26884349 11707452 CLDN1 claudin 1 gene DOID:687 hepatoblastoma severity ISO RGD:68626 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver, embryonic tissue (human) PMID:16647953|REF_RGD_ID:26884349 11707452 CLDN1 claudin 1 gene DOID:687 hepatoblastoma severity ISO RGD:68627 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver, embryonic tissue (human) PMID:16647953|REF_RGD_ID:26884349 11707452 CLDN1 claudin 1 gene DOID:824 periodontitis ISO RGD:68422 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:epithelium: PMID:22092031|REF_RGD_ID:11344891 11707452 CLDN1 claudin 1 gene DOID:8778 Crohn's disease ISO RGD:68626 D RGD:9068941 20200609 RGD PMID:21748286|REF_RGD_ID:11341809 11707452 CLDN1 claudin 1 gene DOID:8947 diabetic retinopathy treatment ISO RGD:68422 D RGD:9068941 20200609 RGD PMID:25685822|REF_RGD_ID:11341734 11707452 CLDN1 claudin 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:68626 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:33665778 11707452 CLDN1 claudin 1 gene DOID:9001620 Leukoaraiosis ISO RGD:68626 D RGD:9068941 20200609 RGD DNA:SNPs: :rs17501010, rs893051,rs9290927(human) PMID:25956626|REF_RGD_ID:11344876 11707452 CLDN1 claudin 1 gene DOID:9004017 Chronic Hepatitis C ISO RGD:68422 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:21412800|REF_RGD_ID:26884350 11707452 CLDN1 claudin 1 gene DOID:9004017 Chronic Hepatitis C ISO RGD:68626 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:21412800|REF_RGD_ID:26884350 11707452 CLDN1 claudin 1 gene DOID:9004017 Chronic Hepatitis C ISO RGD:68627 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:21412800|REF_RGD_ID:26884350 11707452 CLDN1 claudin 1 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:68626 D RGD:9068941 20200609 RGD associated with intravenous substance abuse;DNA:SNP:promoter, intron:multiple mutations PMID:19674288|REF_RGD_ID:25330352 11707452 CLDN1 claudin 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:68626 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:33665778 11707452 CLDN1 claudin 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:68626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 11707452 CLDN1 claudin 1 gene DOID:9007711 Nisch syndrome ISO RGD:68626 D RGD:7240710 20180130 OMIM 11707452 CLDN1 claudin 1 gene DOID:9007711 Nisch syndrome ISO RGD:68626 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome PMID:12164927|PMID:15521008|PMID:16619213|PMID:25741868|PMID:28492532 11707452 CLDN1 claudin 1 gene DOID:9007730 Burns ISO RGD:68422 D RGD:9068941 20200609 RGD associated with Binge Drinking;protein: decreased tyrosine phosphorylation:intestine mucosa" PMID:22001439|REF_RGD_ID:8655996 11707452 CLDN1 claudin 1 gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:68422 D RGD:9068941 20200609 RGD protein:decreased expression:colon: PMID:19929946|REF_RGD_ID:2325127 11707452 CLDN1 claudin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:68626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579870|PMID:24014025 11707452 CLDN1 claudin 1 gene DOID:9778 irritable bowel syndrome ISO RGD:68626 D RGD:9068941 20200609 RGD protein:decreased expression:intestine: PMID:25277410|REF_RGD_ID:11344877 11707460 SMYD3 SET and MYND domain containing 3 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1348508 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11707460 SMYD3 SET and MYND domain containing 3 gene DOID:13938 amenorrhea ISO RGD:1348508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11707460 SMYD3 SET and MYND domain containing 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1348508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11707460 SMYD3 SET and MYND domain containing 3 gene DOID:630 genetic disease ISO RGD:1348508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707460 SMYD3 SET and MYND domain containing 3 gene DOID:670 amphetamine abuse ISO RGD:1348508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11707460 SMYD3 SET and MYND domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11707460 SMYD3 SET and MYND domain containing 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11707481 SHC4 SHC adaptor protein 4 gene DOID:2717 Bloom syndrome ISO RGD:1602620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11707481 SHC4 SHC adaptor protein 4 gene DOID:630 genetic disease ISO RGD:1602620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707481 SHC4 SHC adaptor protein 4 gene DOID:9256 colorectal cancer ISO RGD:1602620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11707497 ADO 2-aminoethanethiol dioxygenase gene DOID:630 genetic disease ISO RGD:1317890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707502 ARHGEF18 Rho/Rac guanine nucleotide exchange factor 18 gene DOID:0080490 mucolipidosis type IV ISO RGD:1322915 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11707502 ARHGEF18 Rho/Rac guanine nucleotide exchange factor 18 gene DOID:0110790 hereditary spastic paraplegia 39 ISO RGD:1322915 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 PMID:28492532 11707502 ARHGEF18 Rho/Rac guanine nucleotide exchange factor 18 gene DOID:630 genetic disease ISO RGD:1322915 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11707502 ARHGEF18 Rho/Rac guanine nucleotide exchange factor 18 gene DOID:8501 fundus dystrophy ISO RGD:1322915 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 11707502 ARHGEF18 Rho/Rac guanine nucleotide exchange factor 18 gene DOID:9003675 Retinitis Pigmentosa 78 ISO RGD:1322915 D RGD:7240710 20230505 OMIM 11707502 ARHGEF18 Rho/Rac guanine nucleotide exchange factor 18 gene DOID:9003675 Retinitis Pigmentosa 78 ISO RGD:1322915 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 78 PMID:16199547|PMID:25741868|PMID:28132693|PMID:28492532|PMID:32581362 11707523 APC APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10612827|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737795|PMID:10768871|PMID:10938175|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11247895|PMID:11247896|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12581900|PMID:12901799|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17568392|PMID:17576681|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18632633|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22875147|PMID:22987206|PMID:22995991|PMID:23159591|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24573554|PMID:24599579|PMID:24651453|PMID:24664542|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25801821|PMID:25832318|PMID:25925381|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26373296|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27574554|PMID:27600092|PMID:27623068|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28202063|PMID:28283864|PMID:28349240|PMID:28492532|PMID:28502729|PMID:28533537|PMID:28576136|PMID:28608266|PMID:28749474|PMID:28828701|PMID:28873162|PMID:29029407|PMID:29122597|PMID:29367705|PMID:29368261|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29506128|PMID:29562902|PMID:29641532|PMID:29684080|PMID:29710228|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29987844|PMID:30152102|PMID:30256826|PMID:30267214|PMID:30374176 11707523 APC APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:30426508|PMID:30487145|PMID:30613976|PMID:30680046|PMID:30814645|PMID:30897307|PMID:30980208|PMID:31054147|PMID:31113927|PMID:31159747|PMID:31285513|PMID:31428572|PMID:31444830|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33436027|PMID:33773808|PMID:33788735|PMID:35142982|PMID:7562975|PMID:7833936|PMID:8103406|PMID:8111416|PMID:8125478|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8931709|PMID:8940262|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9342373|PMID:9487968|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 11707523 APC APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11818965|PMID:11823972|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651563|PMID:16569251|PMID:16650078|PMID:16875934|PMID:17026565|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19347965|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21315632|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22864938|PMID:22875147|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24573554|PMID:24599579|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25801821|PMID:25832318|PMID:25925381|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26373296|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28251689|PMID:28283864|PMID:28349240|PMID:28423518 11707523 APC APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:28492532|PMID:28502729|PMID:28533537|PMID:28576136|PMID:28608266|PMID:28749474|PMID:28828701|PMID:28840378|PMID:28873162|PMID:28944238|PMID:29029407|PMID:29122597|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29506128|PMID:29562902|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31942411|PMID:32547059|PMID:32658311|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33009979|PMID:33193653|PMID:33279946|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33753878|PMID:33773808|PMID:33788735|PMID:34250417|PMID:34479915|PMID:35142982|PMID:7524601|PMID:7562975|PMID:7833931|PMID:7833936|PMID:8103406|PMID:8111416|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8931709|PMID:8940262|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9342373|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 11707523 APC APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11818965|PMID:11823972|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16650078|PMID:16875934|PMID:17026565|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19347965|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21270786|PMID:21315632|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22864938|PMID:22875147|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24573554|PMID:24599579|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25801821|PMID:25832318|PMID:25925381|PMID:25941542|PMID:25974703|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26373296|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28202063 11707523 APC APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11818965|PMID:11823972|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16650078|PMID:16875934|PMID:17026565|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19347965|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21315632|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22864938|PMID:22875147|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24573554|PMID:24599579|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25801821|PMID:25832318|PMID:25925381|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26373296|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28251689|PMID:28283864 11707523 APC APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL PMID:28349240|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28533537|PMID:28576136|PMID:28608266|PMID:28749474|PMID:28791770|PMID:28828701|PMID:28840378|PMID:28873162|PMID:28944238|PMID:29029407|PMID:29122597|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29506128|PMID:29562902|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31942411|PMID:32547059|PMID:32658311|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33009979|PMID:33193653|PMID:33279946|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33753878|PMID:33773808|PMID:33788735|PMID:34250417|PMID:34347074|PMID:34479915|PMID:35142982|PMID:36988593|PMID:7524601|PMID:7562975|PMID:7833931|PMID:7833936|PMID:8103406|PMID:8111416|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8931709|PMID:8940262|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9342373|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 11707523 APC APC regulator of WNT signaling pathway gene DOID:0050589 inflammatory bowel disease ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18716850 11707523 APC APC regulator of WNT signaling pathway gene DOID:0050860 colorectal adenoma ISO RGD:736624 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal adenoma PMID:10811618|PMID:11257105|PMID:11823972|PMID:11904335|PMID:16454848|PMID:18199528|PMID:18844223|PMID:20233475|PMID:21859464|PMID:22703879|PMID:22722839|PMID:22995991|PMID:23085758|PMID:23292937|PMID:23970361|PMID:24033266|PMID:24055113|PMID:2472832|PMID:24728327|PMID:24861525|PMID:25178641|PMID:25203624|PMID:25318351|PMID:25356985|PMID:25479140|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26000489|PMID:26332594|PMID:26416840|PMID:26467025|PMID:26580448|PMID:27153395|PMID:27535533|PMID:27600092|PMID:28259476|PMID:28301460|PMID:28492532|PMID:28503720|PMID:28873162|PMID:28944238|PMID:29212164|PMID:29684080|PMID:30122538|PMID:30256826|PMID:31159747|PMID:33503190|PMID:34250417|PMID:34301788|PMID:35128723 11707523 APC APC regulator of WNT signaling pathway gene DOID:0050902 medulloblastoma ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7661930 11707523 APC APC regulator of WNT signaling pathway gene DOID:0050902 medulloblastoma ISO RGD:736624 D RGD:9068941 20200609 RGD associated with Adenomatous Polyposis Coli;DNA:mutations: : PMID:17238184|REF_RGD_ID:6484523 11707523 APC APC regulator of WNT signaling pathway gene DOID:0060041 autism spectrum disorder ISO RGD:736624 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11707523 APC APC regulator of WNT signaling pathway gene DOID:0080366 desmoid tumor ISO RGD:736624 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Desmoid tumor PMID:1316610|PMID:15311282|PMID:17293347|PMID:22135120|PMID:23757202|PMID:25741868|PMID:27081525|PMID:28492532|PMID:8381579|PMID:9824584 11707523 APC APC regulator of WNT signaling pathway gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736624 D RGD:7240710 20190227 OMIM 11707523 APC APC regulator of WNT signaling pathway gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736624 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10439961|PMID:10454823|PMID:10470088|PMID:10494086|PMID:10562580|PMID:10598803|PMID:10612827|PMID:10634400|PMID:10646887|PMID:10666372|PMID:10669993|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10811618|PMID:10830991|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11145293|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11559652|PMID:11606402|PMID:11668620|PMID:11707392|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11754114|PMID:11818965|PMID:11823972|PMID:11839722|PMID:11852337|PMID:11896079|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12136240|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12486240|PMID:12494469|PMID:12503191|PMID:12527714|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12721244|PMID:12894596|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1319838|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14522379|PMID:14523376|PMID:14574009|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14672538|PMID:14695993|PMID:14729851|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15095859|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15131404|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15446460|PMID:15459959|PMID:15654777|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:15952110|PMID:16088911|PMID:16110024|PMID:16111973|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:16478792|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:16680592|PMID:16736293|PMID:1678319|PMID:16875934|PMID:16944273|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17169185|PMID:17293347|PMID:17410430|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17665205|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18166348|PMID:18199528|PMID:18224684|PMID:18343606|PMID:18369740|PMID:18387968|PMID:18393237|PMID:18406876|PMID:1843350|PMID:18433509|PMID:18487285|PMID:18612690|PMID:18629394|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18982352|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19111562|PMID:19196998|PMID:19279422|PMID:19307944|PMID:19331226|PMID:19336753|PMID:19347965|PMID:19409520|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19506109|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19763152|PMID:19768578|PMID:19793053|PMID:19995397|PMID:20007843|PMID:20033787|PMID:20223039|PMID:20232483|PMID:20233475|PMID:20301519|PMID:20307669|PMID:20333795|PMID:20434453|PMID:20513532|PMID:20564245|PMID:20649969|PMID:20682701|PMID:2068566|PMID:20685668|PMID:2068568|PMID:20924072|PMID:20977806|PMID:21078199|PMID:21110124|PMID:21142386|PMID:21153778|PMID:21315632|PMID:21476993|PMID:21520333|PMID:21533174|PMID:21598003|PMID:21643010|PMID:21646762|PMID:21653199|PMID:21779980|PMID:21813476|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21909382|PMID:21970370|PMID:21995949|PMID:22000517|PMID:22027476|PMID:22135120|PMID:22150579|PMID:22164339|PMID:22395475|PMID:22406018|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22447671|PMID:22585170|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:22799487|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22863191|PMID:22864254|PMID:22875147|PMID:22941256|PMID:22976915|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23185543|PMID:23204322|PMID:23244118|PMID:23292937|PMID:23348723|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23571587|PMID:23575299|PMID:23576677|PMID:23585368|PMID:23700467|PMID:23709753|PMID:23715166 11707523 APC APC regulator of WNT signaling pathway gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736624 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:23725351|PMID:23757202|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24123366|PMID:24233542|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24506336|PMID:24518971|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24618431|PMID:24651015|PMID:24651453|PMID:24664542|PMID:2472832|PMID:24728327|PMID:24735542|PMID:24750145|PMID:24755471|PMID:24763289|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:24946964|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25159889|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25243319|PMID:25256751|PMID:25257991|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25640679|PMID:25665006|PMID:25676610|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25801821|PMID:25815427|PMID:25819062|PMID:25832318|PMID:25925381|PMID:25938944|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26414517|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26511139|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26684191|PMID:26690363|PMID:26692440|PMID:26787237|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26934580|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27217144|PMID:27260402|PMID:27282352|PMID:27284491|PMID:27302369|PMID:27329244|PMID:27343414|PMID:27347161|PMID:27354939|PMID:27391059|PMID:27435373|PMID:27443514|PMID:27449473|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27647783|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28002797|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28251689|PMID:28259476|PMID:28283864|PMID:28301460|PMID:28380452|PMID:28423518|PMID:28481359|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28576136|PMID:28608266|PMID:28640387|PMID:28663347|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28891274|PMID:28944238|PMID:28975465|PMID:29029407|PMID:29050249|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29245953|PMID:29251405|PMID:29360161|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29458332|PMID:29478780|PMID:29485843|PMID:29506128|PMID:29517769|PMID:29518763|PMID:29535845|PMID:29562902|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29754767|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30148152|PMID:30152102|PMID:30239046|PMID:30256815|PMID:30256826|PMID:30267214|PMID:30272267|PMID:30274973 11707523 APC APC regulator of WNT signaling pathway gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736624 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:30287922|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30569724|PMID:30580288|PMID:30584346|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30809968|PMID:30814645|PMID:30833958|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31269945|PMID:31273614|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31504825|PMID:31547467|PMID:31552911|PMID:31702654|PMID:31703593|PMID:31744909|PMID:31780696|PMID:31921681|PMID:31942411|PMID:31970404|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32251017|PMID:32255556|PMID:32283892|PMID:32390703|PMID:32543227|PMID:32547059|PMID:32547938|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32829589|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32984025|PMID:32992489|PMID:32994724|PMID:33009979|PMID:33011440|PMID:33193653|PMID:33242120|PMID:33279946|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33606809|PMID:33646313|PMID:33670833|PMID:33753878|PMID:33773808|PMID:33788735|PMID:33821390|PMID:33875564|PMID:33977078|PMID:34034685|PMID:34106356|PMID:34250417|PMID:34271781|PMID:34301788|PMID:34347074|PMID:34371384|PMID:34388351|PMID:34479915|PMID:34545850|PMID:34754157|PMID:34855061|PMID:34897210|PMID:35098669|PMID:35128723|PMID:35142982|PMID:36988593|PMID:7485167|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7661930|PMID:7746201|PMID:7797123|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7951218|PMID:7959691|PMID:7981688|PMID:8019566|PMID:8103406|PMID:8111410|PMID:8111416|PMID:8162022|PMID:8162051|PMID:8187091|PMID:8252630|PMID:8252631|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8390900|PMID:8395941|PMID:8544194|PMID:8594558|PMID:8625067|PMID:8730280|PMID:8733048|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8910893|PMID:8931709|PMID:8940262|PMID:8940264|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9067764|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9341879|PMID:9342373|PMID:9343467|PMID:9375853|PMID:9452101|PMID:9476377|PMID:9487968|PMID:9494520|PMID:950360|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9765274|PMID:9824584|PMID:9831355|PMID:9843214|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 11707523 APC APC regulator of WNT signaling pathway gene DOID:0111349 hereditary desmoid disease ISO RGD:736624 D RGD:7240710 20180130 OMIM 11707523 APC APC regulator of WNT signaling pathway gene DOID:0111349 hereditary desmoid disease ISO RGD:736624 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation PMID:10077730|PMID:10083733|PMID:10094547|PMID:10470088|PMID:10713886|PMID:10768871|PMID:10782927|PMID:11741105|PMID:11748858|PMID:11933206|PMID:12007223|PMID:12034871|PMID:12173026|PMID:12357334|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14523376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15857185|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16199547|PMID:16292097|PMID:16317745|PMID:16461775|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17576681|PMID:17604324|PMID:17785554|PMID:17963004|PMID:18155426|PMID:18199528|PMID:18433509|PMID:19029688|PMID:19196998|PMID:19444466|PMID:1944466|PMID:19531215|PMID:19793053|PMID:20223039|PMID:20301519|PMID:20649969|PMID:2068566|PMID:20685668|PMID:20924072|PMID:21110124|PMID:21153778|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22431159|PMID:22447671|PMID:22703879|PMID:22864938|PMID:23159591|PMID:23970361|PMID:24033266|PMID:24055113|PMID:24123366|PMID:24448499|PMID:24573554|PMID:24599579|PMID:24728327|PMID:24735542|PMID:25186627|PMID:25203624|PMID:25318351|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25637381|PMID:25741868|PMID:25778705|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26138249|PMID:26300997|PMID:26320869|PMID:26332594|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26510091|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26681312|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27150160|PMID:27153395|PMID:27302369|PMID:27498913|PMID:27600092|PMID:27621404|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28202063|PMID:28283864|PMID:28301460|PMID:28492532|PMID:28526081|PMID:28608266|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29122597|PMID:29212164|PMID:29367705|PMID:29641532|PMID:29684080|PMID:29915797|PMID:29945567|PMID:30267214|PMID:30374176|PMID:30613976|PMID:30897307|PMID:31054147|PMID:31069152|PMID:31159747|PMID:31278746|PMID:31422818|PMID:31428572|PMID:31942411|PMID:32658311|PMID:33279946|PMID:33309985|PMID:33352971|PMID:34479915|PMID:35142982|PMID:36988593|PMID:7661930|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8381580|PMID:8730280|PMID:8844222|PMID:8940264|PMID:8990002|PMID:9101302|PMID:9342373|PMID:9536098|PMID:9585611|PMID:9664575|PMID:9669663|PMID:9824584|PMID:9950360 11707523 APC APC regulator of WNT signaling pathway gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7661930 11707523 APC APC regulator of WNT signaling pathway gene DOID:10283 prostate cancer ISO RGD:10166 D RGD:9068941 20220825 MouseDO OMIM:176807 | OMIM:300147 | OMIM:300704 | OMIM:601518 | OMIM:602759 | OMIM:608656 | OMIM:608658 | OMIM:609299 | OMIM:609558 | OMIM:610321 | OMIM:610997 | OMIM:611100 | OMIM:611868 | OMIM:611928 | OMIM:611955 | OMIM:611958 | OMIM:611959 11707523 APC APC regulator of WNT signaling pathway gene DOID:10283 prostate cancer disease_progression ISO RGD:730903 D RGD:9068941 20220317 RGD PMID:16322291|REF_RGD_ID:151665170 11707523 APC APC regulator of WNT signaling pathway gene DOID:10534 stomach cancer ISO RGD:736624 D RGD:7240710 20220209 OMIM 11707523 APC APC regulator of WNT signaling pathway gene DOID:10534 stomach cancer ISO RGD:736624 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:10094547|PMID:11247896|PMID:11754114|PMID:12007223|PMID:12034871|PMID:12357334|PMID:1316610|PMID:1317264|PMID:1324223|PMID:15108286|PMID:15311282|PMID:15951963|PMID:16461775|PMID:17293347|PMID:17963004|PMID:18433509|PMID:19531215|PMID:19793053|PMID:20223039|PMID:20301519|PMID:20685668|PMID:20924072|PMID:22135120|PMID:23159591|PMID:24033266|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26613750|PMID:26681312|PMID:26845104|PMID:27081525|PMID:28152038|PMID:28492532|PMID:29754767|PMID:30256826|PMID:30287922|PMID:30897307|PMID:31285513|PMID:31942411|PMID:36988593|PMID:8381579|PMID:9824584 11707523 APC APC regulator of WNT signaling pathway gene DOID:1059 intellectual disability ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8071957 11707523 APC APC regulator of WNT signaling pathway gene DOID:10652 Alzheimer's disease ISO RGD:736624 D RGD:9068941 20200609 RGD protein:increased expression:astrocyte PMID:11547943|REF_RGD_ID:6484525 11707523 APC APC regulator of WNT signaling pathway gene DOID:10816 duodenum adenocarcinoma ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Duodenal adenocarcinoma PMID:24033266|PMID:25741868|PMID:26530882|PMID:28195569|PMID:28492532|PMID:30111351|PMID:30833958 11707523 APC APC regulator of WNT signaling pathway gene DOID:11394 adult respiratory distress syndrome ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 11707523 APC APC regulator of WNT signaling pathway gene DOID:1168 familial hyperlipidemia ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17546600 11707523 APC APC regulator of WNT signaling pathway gene DOID:12192 sigmoid colon cancer ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sigmoid colon cancer PMID:25741868|PMID:28492532 11707523 APC APC regulator of WNT signaling pathway gene DOID:12849 autistic disorder ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17221838|PMID:8071957 11707523 APC APC regulator of WNT signaling pathway gene DOID:1380 endometrial cancer ISO RGD:736624 D RGD:9068941 20200609 RGD protein:increased expression:endometrium (human) PMID:15951972|REF_RGD_ID:13673917 11707523 APC APC regulator of WNT signaling pathway gene DOID:1380 endometrial cancer severity ISO RGD:10166 D RGD:9068941 20200609 RGD with Pten knockout PMID:23288720|REF_RGD_ID:13524585 11707523 APC APC regulator of WNT signaling pathway gene DOID:1380 endometrial cancer severity ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:mutations, haplotype:cds:multiple (human) PMID:29876005|REF_RGD_ID:13673916 11707523 APC APC regulator of WNT signaling pathway gene DOID:1380 endometrial cancer treatment ISO RGD:736624 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:22907428|REF_RGD_ID:13524624 11707523 APC APC regulator of WNT signaling pathway gene DOID:13938 amenorrhea ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11707523 APC APC regulator of WNT signaling pathway gene DOID:14566 disease of cellular proliferation ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:25157968 11707523 APC APC regulator of WNT signaling pathway gene DOID:1520 colon carcinoma ISO RGD:736624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10439961|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10830991|PMID:10938175|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11823972|PMID:11852337|PMID:11960572|PMID:12007223|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12486240|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14574009|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14729851|PMID:14961559|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15712637|PMID:15771908|PMID:15857185|PMID:15929773|PMID:16088911|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16461775|PMID:1651563|PMID:16569251|PMID:16680592|PMID:16875934|PMID:17064931|PMID:17119068|PMID:17293347|PMID:17410430|PMID:17411426|PMID:17489848|PMID:17576681|PMID:17604324|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18166348|PMID:18199528|PMID:18343606|PMID:18393237|PMID:18433509|PMID:18770064|PMID:18794146|PMID:18948947|PMID:19029688|PMID:19196998|PMID:19336753|PMID:19347965|PMID:19444466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:21110124|PMID:21153778|PMID:21315632|PMID:21520333|PMID:21653199|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21970370|PMID:21995949|PMID:22135120|PMID:22150579|PMID:22431159|PMID:22585170|PMID:22703879|PMID:2281069|PMID:22810696|PMID:22864938|PMID:22875147|PMID:22941256|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23204322|PMID:23575299|PMID:23576677|PMID:23700467|PMID:23715166|PMID:23846443|PMID:23896379|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24518971|PMID:24573554|PMID:24599579|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24750145|PMID:24861525|PMID:25142776|PMID:25157968|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25257991|PMID:25318351|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25722345|PMID:25741868|PMID:25778705|PMID:25832318|PMID:25925381|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26511139|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26667234|PMID:26681312|PMID:26819281|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27146957|PMID:27153395|PMID:27156442|PMID:27443514|PMID:27600092|PMID:27621404|PMID:27705013|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28185118|PMID:28202063|PMID:28251689|PMID:28283864|PMID:28301460|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28528518|PMID:28533537|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28944238|PMID:29122597|PMID:29367705|PMID:29371908|PMID:29478780|PMID:29506128|PMID:29684080|PMID:29901124|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31062380|PMID:31069152|PMID:31159747|PMID:31175917|PMID:31283021|PMID:31285513|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:32543227|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33332384 11707523 APC APC regulator of WNT signaling pathway gene DOID:1520 colon carcinoma ISO RGD:736624 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:33352971|PMID:33503190|PMID:33875564|PMID:34479915|PMID:35142982|PMID:36988593|PMID:7524601|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7959691|PMID:8111410|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8941012|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9375853|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 11707523 APC APC regulator of WNT signaling pathway gene DOID:1612 breast cancer ISO RGD:736624 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10439961|PMID:10679643|PMID:10938175|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11267860|PMID:11354631|PMID:11551102|PMID:11720476|PMID:12173321|PMID:12533824|PMID:12621137|PMID:14624392|PMID:14633595|PMID:15712637|PMID:15929773|PMID:16228836|PMID:16875934|PMID:17854661|PMID:18343606|PMID:18770064|PMID:20301519|PMID:21859464|PMID:22703879|PMID:23576677|PMID:23896379|PMID:24033266|PMID:24310308|PMID:24416237|PMID:24599579|PMID:24728327|PMID:25604157|PMID:25741868|PMID:26187149|PMID:26300997|PMID:26314409|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26845104|PMID:27146957|PMID:27153395|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28492532|PMID:28749474|PMID:29478780|PMID:29506128|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31444830|PMID:31447099|PMID:31465090|PMID:32658311|PMID:32854451|PMID:33193653|PMID:33332384|PMID:8940262|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9973276 11707523 APC APC regulator of WNT signaling pathway gene DOID:1749 squamous cell carcinoma ISO RGD:736624 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 11707523 APC APC regulator of WNT signaling pathway gene DOID:1793 pancreatic cancer ISO RGD:10166 D RGD:9068941 20200609 RGD DNA:mutation, loss of heterozygosity PMID:7478622|REF_RGD_ID:2317207 11707523 APC APC regulator of WNT signaling pathway gene DOID:1793 pancreatic cancer ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:deletions (human) PMID:1423316|REF_RGD_ID:2317208 11707523 APC APC regulator of WNT signaling pathway gene DOID:1896 sigmoid neoplasm ISO RGD:736624 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sigmoid colon cancer PMID:25741868|PMID:28492532 11707523 APC APC regulator of WNT signaling pathway gene DOID:1984 rectal benign neoplasm ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11766074|PMID:8071957 11707523 APC APC regulator of WNT signaling pathway gene DOID:1996 rectum adenocarcinoma ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rectum adenocarcinoma PMID:24033266|PMID:25741868|PMID:26530882|PMID:28195569|PMID:28492532|PMID:30111351|PMID:30833958 11707523 APC APC regulator of WNT signaling pathway gene DOID:218 ascending colon cancer ISO RGD:736624 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Malignant tumor of ascending colon PMID:25741868|PMID:28492532|PMID:30093976 11707523 APC APC regulator of WNT signaling pathway gene DOID:219 colon cancer ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:22675565|PMID:25741868|PMID:26692440|PMID:26837502|PMID:28492532 11707523 APC APC regulator of WNT signaling pathway gene DOID:234 colon adenocarcinoma ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma PMID:24033266|PMID:24728327|PMID:25741868|PMID:27978560|PMID:28492532 11707523 APC APC regulator of WNT signaling pathway gene DOID:2355 anemia ISO RGD:2123 D RGD:9068941 20201211 RGD PMID:17360473|REF_RGD_ID:1601201 11707523 APC APC regulator of WNT signaling pathway gene DOID:2361 macrocytic anemia ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 11707523 APC APC regulator of WNT signaling pathway gene DOID:2394 ovarian cancer ISO RGD:736624 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:18199528|PMID:19307944|PMID:21859464|PMID:25203624|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26000489|PMID:26332594|PMID:26467025|PMID:26530882|PMID:27121310|PMID:28195569|PMID:28492532|PMID:28744403|PMID:28944238|PMID:29684080|PMID:30256826|PMID:31062380|PMID:33193653|PMID:34250417 11707523 APC APC regulator of WNT signaling pathway gene DOID:2671 transitional cell carcinoma ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:methylation: : PMID:21599969|REF_RGD_ID:7242057 11707523 APC APC regulator of WNT signaling pathway gene DOID:2871 endometrial carcinoma ISO RGD:736624 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:25741868|PMID:28492532|PMID:32885271 11707523 APC APC regulator of WNT signaling pathway gene DOID:2871 endometrial carcinoma onset ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: (human) PMID:19900189|REF_RGD_ID:13524625 11707523 APC APC regulator of WNT signaling pathway gene DOID:299 adenocarcinoma ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15639718|PMID:9111214 11707523 APC APC regulator of WNT signaling pathway gene DOID:299 adenocarcinoma ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:frameshift mutations, nonsense mutations:exon:multiple (human) PMID:11677205|REF_RGD_ID:2317202 11707523 APC APC regulator of WNT signaling pathway gene DOID:3025 acinar cell carcinoma ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:mutations (human) PMID:11891193|REF_RGD_ID:2317200 11707523 APC APC regulator of WNT signaling pathway gene DOID:3068 glioblastoma ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7661930 11707523 APC APC regulator of WNT signaling pathway gene DOID:3121 gallbladder cancer disease_progression ISO RGD:736624 D RGD:9068941 20220210 RGD DNA:SNP::rs11954856(human) PMID:26715268|REF_RGD_ID:151356500 11707523 APC APC regulator of WNT signaling pathway gene DOID:3459 breast carcinoma ISO RGD:736624 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:10439961|PMID:10679643|PMID:10938175|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11267860|PMID:11354631|PMID:11551102|PMID:11720476|PMID:12173321|PMID:12533824|PMID:12621137|PMID:14624392|PMID:14633595|PMID:15712637|PMID:15929773|PMID:16228836|PMID:16875934|PMID:17854661|PMID:18343606|PMID:18770064|PMID:20301519|PMID:21859464|PMID:22703879|PMID:23576677|PMID:23896379|PMID:24033266|PMID:24310308|PMID:24416237|PMID:24599579|PMID:24728327|PMID:25604157|PMID:25741868|PMID:26187149|PMID:26300997|PMID:26314409|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26845104|PMID:27146957|PMID:27153395|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28492532|PMID:28749474|PMID:29478780|PMID:29506128|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31444830|PMID:31447099|PMID:31465090|PMID:32658311|PMID:32854451|PMID:33193653|PMID:33332384|PMID:8940262|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9973276 11707523 APC APC regulator of WNT signaling pathway gene DOID:3840 craniopharyngioma ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniopharyngioma PMID:10083733|PMID:11247896|PMID:12172928|PMID:12486240|PMID:1316610|PMID:15311282|PMID:15771908|PMID:16088911|PMID:17293347|PMID:18794146|PMID:19029688|PMID:20649969|PMID:20924072|PMID:22135120|PMID:23159591|PMID:25590978|PMID:25741868|PMID:26446593|PMID:26467025|PMID:26625971|PMID:26840078|PMID:27081525|PMID:28492532|PMID:8162022|PMID:8381579|PMID:8381581|PMID:8395941|PMID:9824584 11707523 APC APC regulator of WNT signaling pathway gene DOID:3883 Lynch syndrome ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7661930 11707523 APC APC regulator of WNT signaling pathway gene DOID:3908 lung non-small cell carcinoma ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18337602 11707523 APC APC regulator of WNT signaling pathway gene DOID:3910 lung adenocarcinoma ISO RGD:736624 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:10646887|PMID:1316610|PMID:1338764|PMID:15311282|PMID:16134147|PMID:17293347|PMID:18433509|PMID:18948947|PMID:20223039|PMID:20685668|PMID:20924072|PMID:21901162|PMID:22135120|PMID:2281069|PMID:22987206|PMID:23700467|PMID:25157968|PMID:25741868|PMID:27081525|PMID:27993330|PMID:28492532|PMID:8187091|PMID:8381579|PMID:9824584 11707523 APC APC regulator of WNT signaling pathway gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:736624 D RGD:9068941 20200609 RGD DNA,protein:LOH,decreased expression: : PMID:10426194|REF_RGD_ID:7242060 11707523 APC APC regulator of WNT signaling pathway gene DOID:4450 renal cell carcinoma onset ISO RGD:10166 D RGD:9068941 20200609 RGD PMID:16116480|REF_RGD_ID:7242056 11707523 APC APC regulator of WNT signaling pathway gene DOID:4450 renal cell carcinoma severity ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:LOH: : PMID:15203750|REF_RGD_ID:7242059 11707523 APC APC regulator of WNT signaling pathway gene DOID:4927 Klatskin's tumor ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klatskin tumor PMID:25741868|PMID:28492532 11707523 APC APC regulator of WNT signaling pathway gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:736624 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intrahepatic cholangiocarcinoma PMID:24728327|PMID:25479140|PMID:25741868|PMID:26467025|PMID:26530882|PMID:28135048|PMID:28195569|PMID:28492532|PMID:32390703 11707523 APC APC regulator of WNT signaling pathway gene DOID:4947 cholangiocarcinoma ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:15467712|REF_RGD_ID:2317198 11707523 APC APC regulator of WNT signaling pathway gene DOID:4947 cholangiocarcinoma ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity PMID:10212000|REF_RGD_ID:2317205 11707523 APC APC regulator of WNT signaling pathway gene DOID:630 genetic disease ISO RGD:736624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11707523 APC APC regulator of WNT signaling pathway gene DOID:657 adenoma ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10383901|PMID:12034317|PMID:19092804|PMID:30188895|PMID:9111214 11707523 APC APC regulator of WNT signaling pathway gene DOID:657 adenoma ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:frameshift mutations, nonsense mutations:exon:multiple (human) PMID:11677205|REF_RGD_ID:2317202 11707523 APC APC regulator of WNT signaling pathway gene DOID:684 hepatocellular carcinoma ISO RGD:736624 D RGD:7240710 20180130 OMIM 11707523 APC APC regulator of WNT signaling pathway gene DOID:684 hepatocellular carcinoma ISO RGD:736624 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:11466687|PMID:1316610|PMID:15311282|PMID:17293347|PMID:22135120|PMID:24728327|PMID:25479140|PMID:25741868|PMID:26530882|PMID:27081525|PMID:28135048|PMID:28195569|PMID:28492532|PMID:8381579|PMID:9824584 11707523 APC APC regulator of WNT signaling pathway gene DOID:684 hepatocellular carcinoma ISO RGD:736624 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:11466687|PMID:1316610|PMID:15311282|PMID:17293347|PMID:22135120|PMID:24728327|PMID:25479140|PMID:25741868|PMID:26467025|PMID:26530882|PMID:27081525|PMID:28135048|PMID:28195569|PMID:28492532|PMID:32390703|PMID:8381579|PMID:9824584 11707523 APC APC regulator of WNT signaling pathway gene DOID:687 hepatoblastoma ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:8764128 11707523 APC APC regulator of WNT signaling pathway gene DOID:9000011 Gallbladder Neoplasms ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:15447999|REF_RGD_ID:2317199 11707523 APC APC regulator of WNT signaling pathway gene DOID:9000217 Stomach Neoplasms ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of stomach PMID:25741868|PMID:26467025|PMID:26900293|PMID:26976419|PMID:28380452|PMID:28492532|PMID:29237405|PMID:32658311 11707523 APC APC regulator of WNT signaling pathway gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9111214 11707523 APC APC regulator of WNT signaling pathway gene DOID:9001039 Leukocytosis ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 11707523 APC APC regulator of WNT signaling pathway gene DOID:9001441 Adenomatous Polyps ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12810952 11707523 APC APC regulator of WNT signaling pathway gene DOID:9001515 Angioma Serpiginosum, Autosomal Dominant ISO RGD:736624 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angioma serpiginosum, autosomal dominant PMID:25741868|PMID:28492532 11707523 APC APC regulator of WNT signaling pathway gene DOID:9001642 Intestinal Polyps ISO RGD:736624 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:12189188|PMID:14991580|PMID:15063141|PMID:26262998|PMID:31715269|PMID:8561861 11707523 APC APC regulator of WNT signaling pathway gene DOID:9002221 Hyperplasia ISO RGD:10166 D RGD:9068941 20200609 RGD PMID:17596282|REF_RGD_ID:2317191 11707523 APC APC regulator of WNT signaling pathway gene DOID:9002232 Attenuated Adenomatous Polyposis Coli ISO RGD:736624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brain tumor-polyposis syndrome 2 PMID:11317365|PMID:1316610|PMID:1324223|PMID:15108288|PMID:17963004|PMID:20223039|PMID:20685668|PMID:25741868|PMID:28492532|PMID:28944238|PMID:31062380|PMID:7661930|PMID:8990002|PMID:9950360 11707523 APC APC regulator of WNT signaling pathway gene DOID:9002245 Intestinal Neoplasms ISO RGD:10166 D RGD:9068941 20200609 RGD PMID:16959882|PMID:8090754|REF_RGD_ID:6484212|REF_RGD_ID:7242058 11707523 APC APC regulator of WNT signaling pathway gene DOID:9002245 Intestinal Neoplasms ISO RGD:2123 D RGD:9068941 20201211 RGD PMID:17360473|REF_RGD_ID:1601201 11707523 APC APC regulator of WNT signaling pathway gene DOID:9002245 Intestinal Neoplasms ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14706516|PMID:16962818|PMID:19092804|PMID:26335331|PMID:27840820|PMID:9111214 11707523 APC APC regulator of WNT signaling pathway gene DOID:9002304 Prostatic Neoplasms ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17363566|PMID:29610475 11707523 APC APC regulator of WNT signaling pathway gene DOID:9002720 Splenomegaly ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 11707523 APC APC regulator of WNT signaling pathway gene DOID:9002722 Gastric Adenocarcinoma and Proximal Polyposis of the Stomach ISO RGD:736624 D RGD:7240710 20210303 OMIM 11707523 APC APC regulator of WNT signaling pathway gene DOID:9002722 Gastric Adenocarcinoma and Proximal Polyposis of the Stomach ISO RGD:736624 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma and proximal polyposis of the stomach PMID:10083733|PMID:10094547|PMID:10713886|PMID:11748858|PMID:11933206|PMID:12007223|PMID:12173026|PMID:1324223|PMID:15024739|PMID:15108288|PMID:16088911|PMID:16292097|PMID:16317745|PMID:17411426|PMID:18433509|PMID:1944466|PMID:20223039|PMID:20685668|PMID:20924072|PMID:21813476|PMID:22027476|PMID:25741868|PMID:26300997|PMID:26446593|PMID:26467025|PMID:27087319|PMID:27343414|PMID:28492532|PMID:28533537|PMID:29112017|PMID:29141268|PMID:29968043|PMID:30584346|PMID:31159747|PMID:31409086|PMID:33242120|PMID:8381579|PMID:8990002|PMID:9950360 11707523 APC APC regulator of WNT signaling pathway gene DOID:9002928 Colonic Neoplasms ISO RGD:736624 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colonic neoplasm PMID:17963004|PMID:20223039|PMID:20685668|PMID:25525159|PMID:25741868|PMID:28492532|PMID:7959691 11707523 APC APC regulator of WNT signaling pathway gene DOID:9003291 Aggressive Fibromatosis ISO RGD:736624 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:11816139 11707523 APC APC regulator of WNT signaling pathway gene DOID:9003566 Mesothelioma ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659810 11707523 APC APC regulator of WNT signaling pathway gene DOID:9004265 Endometrioid Carcinomas ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:hypermethylation: (human) PMID:18570730|REF_RGD_ID:13432144 11707523 APC APC regulator of WNT signaling pathway gene DOID:9004271 Colonic Polyps ISO RGD:2123 D RGD:9068941 20201211 RGD PMID:17360473|REF_RGD_ID:1601201 11707523 APC APC regulator of WNT signaling pathway gene DOID:9004351 Digestive System Neoplasms ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:missense mutation, insertion, loss of heterozygosity PMID:9369932|REF_RGD_ID:2317206 11707523 APC APC regulator of WNT signaling pathway gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11707523 APC APC regulator of WNT signaling pathway gene DOID:9004594 Jaw Neoplasms ISO RGD:2123 D RGD:9068941 20201211 RGD PMID:17360473|REF_RGD_ID:1601201 11707523 APC APC regulator of WNT signaling pathway gene DOID:9005100 Aberrant Crypt Foci ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14507667 11707523 APC APC regulator of WNT signaling pathway gene DOID:9005172 Lung Neoplasms ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18337602 11707523 APC APC regulator of WNT signaling pathway gene DOID:9006031 Abdominal Fibromatosis ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10686957 11707523 APC APC regulator of WNT signaling pathway gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis PMID:28492532 11707523 APC APC regulator of WNT signaling pathway gene DOID:9006796 Gastrointestinal Neoplasms ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297660 11707523 APC APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10598803|PMID:10612827|PMID:10646887|PMID:10666372|PMID:10669993|PMID:10679643|PMID:10713886|PMID:10737795|PMID:10768871|PMID:10811618|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11466687|PMID:11551102|PMID:11606402|PMID:11707392|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11768389|PMID:11818965|PMID:11839722|PMID:11852337|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12486240|PMID:12494469|PMID:12503191|PMID:12533824|PMID:12581900|PMID:12702169|PMID:12721244|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1319838|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14523376|PMID:14574009|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15131404|PMID:15133491|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:16680592|PMID:1678319|PMID:16875934|PMID:16883523|PMID:16944273|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17169185|PMID:17230660|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17576681|PMID:17604324|PMID:17704924|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18166348|PMID:18199528|PMID:18343606|PMID:18369740|PMID:18387968|PMID:18433509|PMID:18487285|PMID:18612690|PMID:18629394|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19111562|PMID:19196998|PMID:19279422|PMID:19331226|PMID:19336753|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19506109|PMID:19531215|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20033787|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20682701|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21078199|PMID:21110124|PMID:21142386|PMID:21153778|PMID:21520333|PMID:21643010|PMID:2164769|PMID:21653199|PMID:21779980|PMID:21813476|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995949|PMID:22000517|PMID:22027476|PMID:22135120|PMID:22150579|PMID:22164339|PMID:22395475|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22585170|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:22799487|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22863191|PMID:22864254|PMID:22875147|PMID:22941256|PMID:22976915|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23185543|PMID:23204322|PMID:23244118|PMID:23292937|PMID:23348723|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23575299|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23715166|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24123366|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24506336|PMID:24518971|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24618431|PMID:24651453|PMID:24664542|PMID:2472832|PMID:24728327|PMID:24735542|PMID:24750145|PMID:24755471|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25256751|PMID:25257991|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25676610|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25801821|PMID:25815427|PMID:25819062 11707523 APC APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25832318|PMID:25925381|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26414517|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26511139|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27282352|PMID:27284491|PMID:27329244|PMID:27343414|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27623068|PMID:27647783|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28301460|PMID:28380452|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28576136|PMID:28608266|PMID:28663347|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:28891274|PMID:28944238|PMID:29029407|PMID:29050249|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29517769|PMID:29562902|PMID:29641532|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29753700|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30239046|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30814645|PMID:30833958|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31113927|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31547467|PMID:31552911|PMID:31702654|PMID:31703593|PMID:31780696|PMID:31921681|PMID:31970404|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32251017|PMID:32283892|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33242120|PMID:33332384|PMID:33436027|PMID:33606809|PMID:33646313|PMID:33773808|PMID:33788735|PMID:35142982|PMID:7490101|PMID:7562975|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7959691|PMID:8103406|PMID:8111410|PMID:8125478|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8252631|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8940262|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9341879|PMID:9342373|PMID:9375853|PMID:9382065|PMID:9452101|PMID:9487968|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360 11707523 APC APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9973276 11707523 APC APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10598803|PMID:10646887|PMID:10666372|PMID:10669993|PMID:10679643|PMID:10713886|PMID:10737795|PMID:10768871|PMID:10811618|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11466687|PMID:11551102|PMID:11606402|PMID:11707392|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11768389|PMID:11818965|PMID:11839722|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12486240|PMID:12494469|PMID:12503191|PMID:12533824|PMID:12581900|PMID:12702169|PMID:12721244|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1319838|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14523376|PMID:14574009|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15131404|PMID:15133491|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:16680592|PMID:1678319|PMID:16875934|PMID:16883523|PMID:16944273|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17169185|PMID:17230660|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17576681|PMID:17604324|PMID:17704924|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18166348|PMID:18199528|PMID:18343606|PMID:18369740|PMID:18387968|PMID:18433509|PMID:18487285|PMID:18612690|PMID:18629394|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19111562|PMID:19196998|PMID:19279422|PMID:19331226|PMID:19336753|PMID:19347965|PMID:19409520|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19506109|PMID:19531215|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20682701|PMID:2068566|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21078199|PMID:21110124|PMID:21142386|PMID:21153778|PMID:21520333|PMID:21643010|PMID:2164769|PMID:21653199|PMID:21779980|PMID:21813476|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995949|PMID:22000517|PMID:22027476|PMID:22135120|PMID:22150579|PMID:22395475|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22585170|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:22799487|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22863191|PMID:22864254|PMID:22864938|PMID:22875147|PMID:22941256|PMID:22976915|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23185543|PMID:23204322|PMID:23244118|PMID:23292937|PMID:23348723|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23571587|PMID:23575299|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23715166|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24123366|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24506336|PMID:24518971|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24618431|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:24750145|PMID:24755471|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25256751|PMID:25257991|PMID:25318351|PMID:25338684|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25801821|PMID:25815427|PMID:25819062|PMID:25832318|PMID:25925381 11707523 APC APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27260402|PMID:27282352|PMID:27284491|PMID:27329244|PMID:27343414|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27623068|PMID:27647783|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28251689|PMID:28259476|PMID:28283864|PMID:28301460|PMID:28380452|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28576136|PMID:28608266|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28873162|PMID:28891274|PMID:28944238|PMID:28975465|PMID:29029407|PMID:29050249|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29485843|PMID:29489754|PMID:29506128|PMID:29517769|PMID:29562902|PMID:29596542|PMID:29641532|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29753700|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30148152|PMID:30152102|PMID:30239046|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30814645|PMID:30833958|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31113927|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31269945|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31547467|PMID:31552911|PMID:31702654|PMID:31703593|PMID:31780696|PMID:31921681|PMID:31942411|PMID:31970404|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32251017|PMID:32283892|PMID:32390703|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32829589|PMID:32854451|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33011440|PMID:33193653|PMID:33242120|PMID:33332384|PMID:33436027|PMID:33606809|PMID:33646313|PMID:33773808|PMID:33788735|PMID:33875564|PMID:34271781|PMID:34301788|PMID:34347074|PMID:34371384|PMID:34388351|PMID:34754157|PMID:35142982|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7959691|PMID:8103406|PMID:8111410|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8940262|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819 11707523 APC APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9341879|PMID:9342373|PMID:9343467|PMID:9375853|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 11707523 APC APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27260402|PMID:27282352|PMID:27284491|PMID:27302369|PMID:27329244|PMID:27343414|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27623068|PMID:27647783|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28251689|PMID:28259476|PMID:28283864|PMID:28301460|PMID:28380452|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28576136|PMID:28608266|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28891274|PMID:28944238|PMID:28975465|PMID:29029407|PMID:29050249|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29485843|PMID:29489754|PMID:29506128|PMID:29517769|PMID:29562902|PMID:29596542|PMID:29641532|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29753700|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30148152|PMID:30152102|PMID:30239046|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30814645|PMID:30833958|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31113927|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31269945|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31547467|PMID:31552911|PMID:31702654|PMID:31703593|PMID:31780696|PMID:31921681|PMID:31942411|PMID:31970404|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32251017|PMID:32283892|PMID:32390703|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32829589|PMID:32854451|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33011440|PMID:33193653|PMID:33242120|PMID:33332384|PMID:33436027|PMID:33606809|PMID:33646313|PMID:33773808|PMID:33788735|PMID:33875564|PMID:34271781|PMID:34301788|PMID:34347074|PMID:34371384|PMID:34388351|PMID:34754157|PMID:35128723|PMID:35142982|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7959691|PMID:8103406|PMID:8111410|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8940262|PMID:8941012|PMID:8956059 11707523 APC APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9341879|PMID:9342373|PMID:9343467|PMID:9375853|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 11707523 APC APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27260402|PMID:27282352|PMID:27284491|PMID:27302369|PMID:27329244|PMID:27343414|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27623068|PMID:27647783|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28251689|PMID:28259476|PMID:28283864|PMID:28301460|PMID:28380452|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28576136|PMID:28608266|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28891274|PMID:28944238|PMID:28975465|PMID:29029407|PMID:29050249|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29485843|PMID:29489754|PMID:29506128|PMID:29517769|PMID:29562902|PMID:29596542|PMID:29641532|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29753700|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30148152|PMID:30152102|PMID:30239046|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30814645|PMID:30833958|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31113927|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31269945|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31547467|PMID:31552911|PMID:31702654|PMID:31703593|PMID:31780696|PMID:31921681|PMID:31942411|PMID:31970404|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32251017|PMID:32283892|PMID:32390703|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32829589|PMID:32854451|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33011440|PMID:33193653|PMID:33242120|PMID:33332384|PMID:33436027|PMID:33606809|PMID:33646313|PMID:33773808|PMID:33788735|PMID:33875564|PMID:34271781|PMID:34301788|PMID:34347074|PMID:34371384|PMID:34388351|PMID:34754157|PMID:35128723|PMID:35142982|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7959691|PMID:8103406|PMID:8111410|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8940262|PMID:8941012 11707523 APC APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9341879|PMID:9342373|PMID:9343467|PMID:9375853|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 11707523 APC APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10598803|PMID:10612827|PMID:10634400|PMID:10646887|PMID:10666372|PMID:10669993|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10811618|PMID:10830991|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11355315|PMID:11466687|PMID:11551102|PMID:11559652|PMID:11606402|PMID:11707392|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11754114|PMID:11768389|PMID:11818965|PMID:11823972|PMID:11839722|PMID:11852337|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12486240|PMID:12494469|PMID:12503191|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12721244|PMID:12894596|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1319838|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14522379|PMID:14523376|PMID:14574009|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15131404|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15654777|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16111973|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:16478792|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:16680592|PMID:1678319|PMID:16875934|PMID:16944273|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17169185|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17576681|PMID:17604324|PMID:17665205|PMID:17704924|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18166348|PMID:18199528|PMID:18224684|PMID:18343606|PMID:18369740|PMID:18387968|PMID:18393237|PMID:1843350|PMID:18433509|PMID:18487285|PMID:18612690|PMID:18629394|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19111562|PMID:19196998|PMID:19279422|PMID:19307944|PMID:19331226|PMID:19336753|PMID:19347965|PMID:19409520|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19506109|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:19995397|PMID:20007843|PMID:20033787|PMID:20223039|PMID:20232483|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20513532|PMID:20564245|PMID:20649969|PMID:20682701|PMID:2068566|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21078199|PMID:21110124|PMID:21142386|PMID:21153778|PMID:21270786|PMID:21315632|PMID:21520333|PMID:21533174|PMID:21598003|PMID:21643010|PMID:2164769|PMID:21653199|PMID:21779980|PMID:21813476|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21909382|PMID:21970370|PMID:21995949|PMID:22000517|PMID:22027476|PMID:22135120|PMID:22150579|PMID:22164339|PMID:22395475|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22447671|PMID:22585170|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:22799487|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22863191|PMID:22864254|PMID:22864938|PMID:22875147|PMID:22941256|PMID:22976915|PMID:22987206|PMID:22995991|PMID:23054214|PMID:23085758|PMID:23159591|PMID:23185543|PMID:23204322|PMID:23244118|PMID:23292937|PMID:23348723|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23575299|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23715166|PMID:23771323|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24123366|PMID:24233542|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24506336|PMID:24518971|PMID:24549056|PMID:24573554 11707523 APC APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10598803|PMID:10612827|PMID:10634400|PMID:10646887|PMID:10666372|PMID:10669993|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10811618|PMID:10830991|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11355315|PMID:11466687|PMID:11551102|PMID:11559652|PMID:11606402|PMID:11707392|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11754114|PMID:11768389|PMID:11818965|PMID:11823972|PMID:11839722|PMID:11852337|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12486240|PMID:12494469|PMID:12503191|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12721244|PMID:12894596|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1319838|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14522379|PMID:14523376|PMID:14574009|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15131404|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15654777|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16111973|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:16478792|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:16680592|PMID:1678319|PMID:16875934|PMID:16944273|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17169185|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17576681|PMID:17604324|PMID:17665205|PMID:17704924|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18166348|PMID:18199528|PMID:18224684|PMID:18343606|PMID:18369740|PMID:18387968|PMID:18393237|PMID:1843350|PMID:18433509|PMID:18487285|PMID:18612690|PMID:18629394|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19111562|PMID:19196998|PMID:19279422|PMID:19307944|PMID:19331226|PMID:19336753|PMID:19347965|PMID:19409520|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19506109|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:19995397|PMID:20007843|PMID:20033787|PMID:20223039|PMID:20232483|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20513532|PMID:20564245|PMID:20649969|PMID:20682701|PMID:2068566|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21078199|PMID:21110124|PMID:21142386|PMID:21153778|PMID:21315632|PMID:21520333|PMID:21533174|PMID:21598003|PMID:21643010|PMID:2164769|PMID:21653199|PMID:21779980|PMID:21813476|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21909382|PMID:21970370|PMID:21995949|PMID:22000517|PMID:22027476|PMID:22135120|PMID:22150579|PMID:22164339|PMID:22395475|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22447671|PMID:22585170|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:22799487|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22863191|PMID:22864254|PMID:22864938|PMID:22875147|PMID:22941256|PMID:22976915|PMID:22987206|PMID:22995991|PMID:23054214|PMID:23085758|PMID:23159591|PMID:23185543|PMID:23204322|PMID:23244118|PMID:23292937|PMID:23348723|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23571587|PMID:23575299|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23715166|PMID:23771323|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24123366|PMID:24233542|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24506336|PMID:24518971|PMID:24549056|PMID:24573554 11707523 APC APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24599579|PMID:24618431|PMID:24651015|PMID:24651453|PMID:24664542|PMID:2472832|PMID:24728327|PMID:24735542|PMID:24750145|PMID:24755471|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25256751|PMID:25257991|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25665006|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25801821|PMID:25815427|PMID:25819062|PMID:25832318|PMID:25925381|PMID:25938944|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26414517|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26511139|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26684191|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26934580|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27260402|PMID:27282352|PMID:27284491|PMID:27302369|PMID:27329244|PMID:27343414|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27449473|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27647783|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28002797|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28251689|PMID:28259476|PMID:28283864|PMID:28301460|PMID:28349240|PMID:28380452|PMID:28413499|PMID:28423518|PMID:28481359|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28576136|PMID:28608266|PMID:28640387|PMID:28663347|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28891274|PMID:28944238|PMID:28975465|PMID:29029407|PMID:29050249|PMID:29109117|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29150975|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29245953|PMID:29251405|PMID:29360161|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29458332|PMID:29478780|PMID:29485843|PMID:29489754|PMID:29506128|PMID:29517769|PMID:29518763|PMID:29535845|PMID:29562902|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29753700|PMID:29754767|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30006736|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30148152|PMID:30152102|PMID:30239046|PMID:30256815|PMID:30256826|PMID:30267214|PMID:30287922|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30523670|PMID:30569724|PMID:30580288|PMID:30584346|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30809968|PMID:30814645|PMID:30833958|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31175917 11707523 APC APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31186761|PMID:31269945|PMID:31273614|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31547467|PMID:31552911|PMID:31702654|PMID:31703593|PMID:31744909|PMID:31780696|PMID:31921681|PMID:31942411|PMID:31970404|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32123317|PMID:32251017|PMID:32255556|PMID:32283892|PMID:32390703|PMID:32543227|PMID:32547059|PMID:32547938|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32829589|PMID:32854451|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32984025|PMID:32992489|PMID:32994724|PMID:33009979|PMID:33011440|PMID:33193653|PMID:33242120|PMID:33279946|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33606809|PMID:33646313|PMID:33773808|PMID:33788735|PMID:33821390|PMID:33875564|PMID:33977078|PMID:34034685|PMID:34106356|PMID:34250417|PMID:34271781|PMID:34301788|PMID:34347074|PMID:34371384|PMID:34388351|PMID:34479915|PMID:34545850|PMID:34754157|PMID:34855061|PMID:34897210|PMID:35098669|PMID:35128723|PMID:35142982|PMID:36988593|PMID:7485167|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7661930|PMID:7746201|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7951218|PMID:7959691|PMID:8020934|PMID:8103406|PMID:8111410|PMID:8162022|PMID:8162051|PMID:8187091|PMID:8252630|PMID:8252631|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8594558|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8910893|PMID:8940262|PMID:8940264|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9067764|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9341879|PMID:9342373|PMID:9343467|PMID:9375853|PMID:9452101|PMID:9476377|PMID:9487968|PMID:9494520|PMID:950360|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9765274|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 11707523 APC APC regulator of WNT signaling pathway gene DOID:9007188 Liver Neoplasms ISO RGD:736624 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neoplasm of the liver PMID:16569251|PMID:18199528|PMID:21859464|PMID:22703879|PMID:23159591|PMID:24728327|PMID:25186627|PMID:25479140|PMID:25741868|PMID:25980754|PMID:26173098|PMID:26252958|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26837502|PMID:26845104|PMID:26976419|PMID:27121310|PMID:28135048|PMID:28135145|PMID:28195569|PMID:28492532|PMID:32088909|PMID:32390703|PMID:32984025 11707523 APC APC regulator of WNT signaling pathway gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092804|PMID:21967605 11707523 APC APC regulator of WNT signaling pathway gene DOID:9007715 Endometrial Neoplasms ISO RGD:10166 D RGD:9068941 20200609 RGD PMID:24474556|REF_RGD_ID:13524584 11707523 APC APC regulator of WNT signaling pathway gene DOID:9008296 Eye Abnormalities ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16938888 11707523 APC APC regulator of WNT signaling pathway gene DOID:9008443 Colorectal Neoplasms ISO RGD:736624 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:10646887|PMID:10737795|PMID:12374230|PMID:12581900|PMID:12702169|PMID:1316610|PMID:1338764|PMID:1338904|PMID:14961559|PMID:15108286|PMID:15108288|PMID:1528264|PMID:15311282|PMID:16134147|PMID:1651563|PMID:17293347|PMID:17411426|PMID:17704924|PMID:17963004|PMID:18433509|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19347965|PMID:20007843|PMID:20223039|PMID:20685668|PMID:20924072|PMID:21110124|PMID:21901162|PMID:22135120|PMID:2281069|PMID:22810696|PMID:22848674|PMID:22987206|PMID:23159591|PMID:23204322|PMID:23561487|PMID:23700467|PMID:24518971|PMID:24651453|PMID:24861525|PMID:25157968|PMID:25741868|PMID:25832318|PMID:26446593|PMID:26467025|PMID:26613750|PMID:26625971|PMID:27081525|PMID:28251689|PMID:28492532|PMID:29122597|PMID:29367705|PMID:29368261|PMID:30006736|PMID:31062380|PMID:31283021|PMID:7524601|PMID:7833931|PMID:8103406|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8941012|PMID:8990002|PMID:9494520|PMID:9824584|PMID:9950360 11707523 APC APC regulator of WNT signaling pathway gene DOID:9008952 Breast Cancer, Familial ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:20301519|PMID:28492532 11707523 APC APC regulator of WNT signaling pathway gene DOID:9008975 Gastrointestinal Hemorrhage ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24430131 11707523 APC APC regulator of WNT signaling pathway gene DOID:9009045 Gardner Syndrome ISO RGD:736624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gardner syndrome PMID:10094547|PMID:10982189|PMID:11317365|PMID:11466687|PMID:12007223|PMID:12173026|PMID:1316610|PMID:14633595|PMID:15024739|PMID:15311282|PMID:16134147|PMID:16317745|PMID:1651563|PMID:17135589|PMID:17293347|PMID:17963004|PMID:18199528|PMID:18433509|PMID:20223039|PMID:20513532|PMID:20649969|PMID:20685668|PMID:20924072|PMID:21643010|PMID:2164769|PMID:21779980|PMID:21859464|PMID:22000517|PMID:22135120|PMID:22703879|PMID:22987206|PMID:23159591|PMID:23561487|PMID:24033266|PMID:24728327|PMID:2478327|PMID:24790607|PMID:24841357|PMID:25142776|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26467025|PMID:26613750|PMID:26845104|PMID:26917275|PMID:27081525|PMID:27435373|PMID:27930734|PMID:28492532|PMID:30897307|PMID:7485167|PMID:8162051|PMID:8381579|PMID:8381580|PMID:8594558|PMID:9375853|PMID:9487968|PMID:9824584|PMID:9916927 11707523 APC APC regulator of WNT signaling pathway gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor of small intestine PMID:25741868|PMID:26530882|PMID:28492532 11707523 APC APC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:736624 D RGD:7240710 20200226 OMIM 11707523 APC APC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10083733|PMID:10094547|PMID:10439961|PMID:10598803|PMID:10679643|PMID:10713886|PMID:10768871|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18844223|PMID:19029688|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20685668|PMID:20924072|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22875147|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25559809|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27077911|PMID:27081525|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27284491|PMID:27329244|PMID:27443514|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28380452|PMID:28492532|PMID:28502729|PMID:28548127|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29237405|PMID:29371908|PMID:29386312|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29945567|PMID:29961768|PMID:30152102|PMID:30267214|PMID:30426508|PMID:30487145|PMID:30814645|PMID:30897307|PMID:30980208|PMID:31159747|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31444830|PMID:31702654|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33436027|PMID:33773808|PMID:35142982|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 11707523 APC APC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:736624 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:10083733|PMID:10094547|PMID:10439961|PMID:10598803|PMID:10679643|PMID:10713886|PMID:10768871|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20685668|PMID:20924072|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22875147|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25559809|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27077911|PMID:27081525|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27284491|PMID:27329244|PMID:27443514|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28380452|PMID:28492532|PMID:28502729|PMID:28548127|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29237405|PMID:29371908|PMID:29386312|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31702654|PMID:31942411|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33332384|PMID:33436027|PMID:33773808|PMID:35142982|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 11707523 APC APC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:736624 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10083733|PMID:10094547|PMID:10439961|PMID:10598803|PMID:10679643|PMID:10713886|PMID:10768871|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12621137|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20685668|PMID:20924072|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22875147|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25559809|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27009842|PMID:27077911|PMID:27081525|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27284491|PMID:27329244|PMID:27443514|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28380452|PMID:28492532|PMID:28502729|PMID:28548127|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29237405|PMID:29371908|PMID:29386312|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31702654|PMID:31942411|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33332384|PMID:33436027|PMID:33773808|PMID:35142982|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 11707523 APC APC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:736624 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:10083733|PMID:10094547|PMID:10439961|PMID:10598803|PMID:10679643|PMID:10713886|PMID:10768871|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12621137|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19331226|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20685668|PMID:20924072|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22875147|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25559809|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27077911|PMID:27081525|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27284491|PMID:27329244|PMID:27443514|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28380452|PMID:28492532|PMID:28502729|PMID:28548127|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29237405|PMID:29371908|PMID:29386312|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31702654|PMID:31942411|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33309985|PMID:33332384|PMID:33436027|PMID:33773808|PMID:35142982|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 11707523 APC APC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:736624 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10083733|PMID:10094547|PMID:10439961|PMID:10598803|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10768871|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12537656|PMID:12621137|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19331226|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19701947|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20685668|PMID:20924072|PMID:21153778|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22875147|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25559809|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27077911|PMID:27081525|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27284491|PMID:27329244|PMID:27443514|PMID:27600092|PMID:27621404|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28380452|PMID:28492532|PMID:28502729|PMID:28548127|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29237405|PMID:29371908|PMID:29386312|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31702654|PMID:31942411|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33773808|PMID:35142982|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 11707523 APC APC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:736624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10083733|PMID:10094547|PMID:10439961|PMID:10598803|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10768871|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12537656|PMID:12621137|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19331226|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19701947|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20434453|PMID:20685668|PMID:20924072|PMID:21153778|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22875147|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25559809|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27077911|PMID:27081525|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27284491|PMID:27329244|PMID:27443514|PMID:27600092|PMID:27621404|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28380452|PMID:28492532|PMID:28502729|PMID:28548127|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29237405|PMID:29371908|PMID:29386312|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31702654|PMID:31942411|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33773808|PMID:35142982|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8940264|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 11707523 APC APC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:736624 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10083733|PMID:10094547|PMID:10439961|PMID:10598803|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10768871|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12537656|PMID:12621137|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19331226|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19701947|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20434453|PMID:20685668|PMID:20924072|PMID:21153778|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22447671|PMID:22703879|PMID:22722839|PMID:22875147|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25559809|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27077911|PMID:27081525|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27284491|PMID:27329244|PMID:27443514|PMID:27600092|PMID:27621404|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28380452|PMID:28492532|PMID:28502729|PMID:28548127|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29237405|PMID:29371908|PMID:29386312|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31702654|PMID:31942411|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33773808|PMID:35142982|PMID:36988593|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8940264|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 11707575 MTERF4 mitochondrial transcription termination factor 4 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1602073 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11707575 MTERF4 mitochondrial transcription termination factor 4 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1602073 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11707575 MTERF4 mitochondrial transcription termination factor 4 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1602073 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11707575 MTERF4 mitochondrial transcription termination factor 4 gene DOID:1059 intellectual disability ISO RGD:1602073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11707575 MTERF4 mitochondrial transcription termination factor 4 gene DOID:630 genetic disease ISO RGD:1602073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707575 MTERF4 mitochondrial transcription termination factor 4 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1602073 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11707592 SNED1 sushi, nidogen and EGF like domains 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1349916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11707592 SNED1 sushi, nidogen and EGF like domains 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1349916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11707592 SNED1 sushi, nidogen and EGF like domains 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1349916 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11707592 SNED1 sushi, nidogen and EGF like domains 1 gene DOID:1059 intellectual disability ISO RGD:1349916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11707592 SNED1 sushi, nidogen and EGF like domains 1 gene DOID:630 genetic disease ISO RGD:1349916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707592 SNED1 sushi, nidogen and EGF like domains 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1349916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11707628 AK1 adenylate kinase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736701 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11707628 AK1 adenylate kinase 1 gene DOID:0050746 mantle cell lymphoma ISO RGD:736701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23676220 11707628 AK1 adenylate kinase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:736701 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11707628 AK1 adenylate kinase 1 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:736701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11707628 AK1 adenylate kinase 1 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:736701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 11707628 AK1 adenylate kinase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736701 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11707628 AK1 adenylate kinase 1 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:736701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:15879500|PMID:20414677|PMID:28492532 11707628 AK1 adenylate kinase 1 gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:736701 D RGD:9068941 20200609 RGD DNA:missense, deletion mutations:cds: PMID:17662886|REF_RGD_ID:11100022 11707628 AK1 adenylate kinase 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:2076 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (rat) PMID:16468349|REF_RGD_ID:5508760 11707628 AK1 adenylate kinase 1 gene DOID:583 hemolytic anemia ISO RGD:736701 D RGD:9068941 20200609 RGD PMID:10233365|REF_RGD_ID:1300279 11707628 AK1 adenylate kinase 1 gene DOID:5844 myocardial infarction treatment ISO RGD:2076 D RGD:9068941 20200609 RGD PMID:22229508|REF_RGD_ID:11100025 11707628 AK1 adenylate kinase 1 gene DOID:630 genetic disease ISO RGD:736701 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11707628 AK1 adenylate kinase 1 gene DOID:9005319 Hemolytic Anemia due to Adenylate Kinase Deficiency ISO RGD:736701 D RGD:7240710 20180130 OMIM 11707628 AK1 adenylate kinase 1 gene DOID:9005319 Hemolytic Anemia due to Adenylate Kinase Deficiency ISO RGD:736701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemolytic anemia due to adenylate kinase deficiency PMID:10233365|PMID:12649162|PMID:15315793|PMID:24033266|PMID:2542324|PMID:25741868|PMID:28492532|PMID:9432020 11707628 AK1 adenylate kinase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:736701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11707628 AK1 adenylate kinase 1 gene DOID:9008824 Sarcopenia ISO RGD:2076 D RGD:9068941 20200609 RGD protein:increased expression:gastrocnemius muscle (rat) PMID:17611631|REF_RGD_ID:5147990 11707628 AK1 adenylate kinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2076 D RGD:9068941 20200609 RGD protein:increased expression:gastrocnemius muscle (rat) PMID:20127051|REF_RGD_ID:5134362 11707628 AK1 adenylate kinase 1 gene DOID:9970 obesity ISO RGD:736701 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:15855311|REF_RGD_ID:1601154 11707645 CDCA4 cell division cycle associated 4 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1348557 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11707645 CDCA4 cell division cycle associated 4 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1348557 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 11707645 CDCA4 cell division cycle associated 4 gene DOID:630 genetic disease ISO RGD:1348557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707682 KLK13 kallikrein related peptidase 13 gene DOID:10283 prostate cancer ISO RGD:1319630 D RGD:9068941 20200609 RGD protein:decreased expression:prostate PMID:12970725|REF_RGD_ID:2314865 11707682 KLK13 kallikrein related peptidase 13 gene DOID:4001 ovarian carcinoma ISO RGD:1319630 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:19707197|REF_RGD_ID:2314862 11707682 KLK13 kallikrein related peptidase 13 gene DOID:630 genetic disease ISO RGD:1319630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707702 LOC100969502 left-right determination factor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1350904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11707702 LOC100969502 left-right determination factor 1 gene DOID:630 genetic disease ISO RGD:1350904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707702 LOC100969502 left-right determination factor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11707710 SEPTIN10 septin 10 gene DOID:0080600 COVID-19 ISO RGD:1606447 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11707710 SEPTIN10 septin 10 gene DOID:630 genetic disease ISO RGD:1606447 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707727 LOC100970954 cytochrome b5 domain-containing protein 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1603917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11707727 LOC100970954 cytochrome b5 domain-containing protein 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1603917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11707727 LOC100970954 cytochrome b5 domain-containing protein 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11707727 LOC100970954 cytochrome b5 domain-containing protein 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1603917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11707727 LOC100970954 cytochrome b5 domain-containing protein 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1603917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 11707727 LOC100970954 cytochrome b5 domain-containing protein 1 gene DOID:630 genetic disease ISO RGD:1603917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707741 ZFPL1 zinc finger protein like 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11707741 ZFPL1 zinc finger protein like 1 gene DOID:1059 intellectual disability ISO RGD:1350269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11707741 ZFPL1 zinc finger protein like 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1350269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11707741 ZFPL1 zinc finger protein like 1 gene DOID:2746 glycogen storage disease V ISO RGD:1350269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11707741 ZFPL1 zinc finger protein like 1 gene DOID:3070 high grade glioma ISO RGD:1350269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11707741 ZFPL1 zinc finger protein like 1 gene DOID:630 genetic disease ISO RGD:1350269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707761 QSER1 glutamine and serine rich 1 gene DOID:1059 intellectual disability ISO RGD:1605632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11707761 QSER1 glutamine and serine rich 1 gene DOID:630 genetic disease ISO RGD:1605632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707777 YIPF2 Yip1 domain family member 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1604600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11707777 YIPF2 Yip1 domain family member 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1604600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11707777 YIPF2 Yip1 domain family member 2 gene DOID:0111254 glutaric acidemia I ISO RGD:1604600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11707777 YIPF2 Yip1 domain family member 2 gene DOID:13810 familial hypercholesterolemia ISO RGD:1604600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:28492532 11707777 YIPF2 Yip1 domain family member 2 gene DOID:3413 alpha-mannosidosis ISO RGD:1604600 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11707777 YIPF2 Yip1 domain family member 2 gene DOID:630 genetic disease ISO RGD:1604600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707793 TSNAXIP1 translin associated factor X interacting protein 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1348366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11707793 TSNAXIP1 translin associated factor X interacting protein 1 gene DOID:10283 prostate cancer ISO RGD:1348366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11707793 TSNAXIP1 translin associated factor X interacting protein 1 gene DOID:630 genetic disease ISO RGD:1348366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707837 PAN3 poly(A) specific ribonuclease subunit PAN3 gene DOID:630 genetic disease ISO RGD:1603874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707872 FABP9 fatty acid binding protein 9 gene DOID:630 genetic disease ISO RGD:1343200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707889 WDFY1 WD repeat and FYVE domain containing 1 gene DOID:630 genetic disease ISO RGD:1314357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707889 WDFY1 WD repeat and FYVE domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11707905 PAFAH2 platelet activating factor acetylhydrolase 2 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1349698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 11707905 PAFAH2 platelet activating factor acetylhydrolase 2 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1349698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 11707905 PAFAH2 platelet activating factor acetylhydrolase 2 gene DOID:630 genetic disease ISO RGD:1349698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707930 METTL24 methyltransferase like 24 gene DOID:630 genetic disease ISO RGD:1343913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707940 ANKRD37 ankyrin repeat domain 37 gene DOID:12849 autistic disorder ISO RGD:1604164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11707940 ANKRD37 ankyrin repeat domain 37 gene DOID:12930 dilated cardiomyopathy ISO RGD:1604164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 11707940 ANKRD37 ankyrin repeat domain 37 gene DOID:630 genetic disease ISO RGD:1604164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707940 ANKRD37 ankyrin repeat domain 37 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1604164 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 11707940 ANKRD37 ankyrin repeat domain 37 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1604164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 11707953 LOC100981101 olfactory receptor 10AC1 gene DOID:630 genetic disease ISO RGD:1351550 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707956 IL17A interleukin 17A gene DOID:0050073 invasive aspergillosis severity ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:21807912|REF_RGD_ID:8698654 11707956 IL17A interleukin 17A gene DOID:0050169 cutaneous lupus erythematosus ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:epidermis (human) PMID:20493423|REF_RGD_ID:8698667 11707956 IL17A interleukin 17A gene DOID:0060180 colitis ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:14962796|REF_RGD_ID:4888509 11707956 IL17A interleukin 17A gene DOID:0060180 colitis ISO RGD:2888 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:20881082|REF_RGD_ID:4781448 11707956 IL17A interleukin 17A gene DOID:0060180 colitis ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24548422 11707956 IL17A interleukin 17A gene DOID:0060189 ileitis ISO RGD:2888 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum PMID:18536735|REF_RGD_ID:4837793 11707956 IL17A interleukin 17A gene DOID:0060318 acute promyelocytic leukemia ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22617429 11707956 IL17A interleukin 17A gene DOID:0060704 lymphoproliferative syndrome ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22617429 11707956 IL17A interleukin 17A gene DOID:0080162 lupus nephritis treatment ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:25129462|REF_RGD_ID:9244623 11707956 IL17A interleukin 17A gene DOID:0080600 COVID-19 severity ISO RGD:735883 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 11707956 IL17A interleukin 17A gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:2888 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, serum (rat) PMID:22990529|REF_RGD_ID:9068935 11707956 IL17A interleukin 17A gene DOID:0081267 graft-versus-host disease ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22077062 11707956 IL17A interleukin 17A gene DOID:1024 leprosy severity ISO RGD:735883 D RGD:9068941 20200609 RGD mRNA:decreased expression:epidermis (human) PMID:22641009|REF_RGD_ID:8698644 11707956 IL17A interleukin 17A gene DOID:10247 pleurisy treatment ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:21898269|REF_RGD_ID:7175307 11707956 IL17A interleukin 17A gene DOID:10325 silicosis ISO RGD:10787 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:20421647|REF_RGD_ID:4888525 11707956 IL17A interleukin 17A gene DOID:10754 otitis media severity ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:24664502|REF_RGD_ID:8698659 11707956 IL17A interleukin 17A gene DOID:10966 lipoid nephrosis ISO RGD:2888 D RGD:9068941 20200609 RGD Protein:increased expression:plasma (rat) PMID:22772331|REF_RGD_ID:9068937 11707956 IL17A interleukin 17A gene DOID:11263 chlamydia ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:19812198|REF_RGD_ID:4889101 11707956 IL17A interleukin 17A gene DOID:11263 chlamydia ISO RGD:10787 D RGD:9068941 20200609 RGD associated with Bronchial Hyprractivity; mRNA:increased expression:lung PMID:20228193|REF_RGD_ID:4888528 11707956 IL17A interleukin 17A gene DOID:11265 trachoma ISO RGD:735883 D RGD:9068941 20200609 RGD mRNA:increased expression:conjunctiva (human) PMID:21911461|REF_RGD_ID:9068420 11707956 IL17A interleukin 17A gene DOID:11382 corneal neovascularization treatment ISO RGD:10787 D RGD:9068941 20200609 RGD associated with Herpes Simplex PMID:22379030|REF_RGD_ID:9068451 11707956 IL17A interleukin 17A gene DOID:11396 pulmonary edema ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28600744 11707956 IL17A interleukin 17A gene DOID:1205 allergic disease ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11707956 IL17A interleukin 17A gene DOID:12306 vitiligo ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:22342018|REF_RGD_ID:8663475 11707956 IL17A interleukin 17A gene DOID:12361 Graves' disease ISO RGD:735883 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 11707956 IL17A interleukin 17A gene DOID:12361 Graves' disease susceptibility ISO RGD:735883 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS1+18G>A (rs3819025) (human) PMID:22816799|REF_RGD_ID:9068423 11707956 IL17A interleukin 17A gene DOID:1273 respiratory syncytial virus infectious disease severity ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19738511|REF_RGD_ID:4889103 11707956 IL17A interleukin 17A gene DOID:1287 cardiovascular system disease ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29114965 11707956 IL17A interleukin 17A gene DOID:12894 Sjogren's syndrome ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:21182786|REF_RGD_ID:8696035 11707956 IL17A interleukin 17A gene DOID:13141 uveitis ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:19373578|REF_RGD_ID:4888523 11707956 IL17A interleukin 17A gene DOID:13141 uveitis ISO RGD:735883 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;protein:increased expression:serum (human) PMID:23101722|REF_RGD_ID:9068441 11707956 IL17A interleukin 17A gene DOID:13241 Behcet's disease ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:21455110|REF_RGD_ID:8698672 11707956 IL17A interleukin 17A gene DOID:13375 temporal arteritis severity ISO RGD:735883 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:temporal artery (human) PMID:22993227|REF_RGD_ID:8698666 11707956 IL17A interleukin 17A gene DOID:13375 temporal arteritis susceptibility ISO RGD:735883 D RGD:9068941 20200609 RGD DNA:snps:promoter, 3' utr: c.-197A>G (rs2275913), c.*159A>G (rs7747909) (human) PMID:24919468|REF_RGD_ID:9068454 11707956 IL17A interleukin 17A gene DOID:1485 cystic fibrosis ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:21109552|REF_RGD_ID:4889130 11707956 IL17A interleukin 17A gene DOID:1485 cystic fibrosis ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19342416|REF_RGD_ID:4889105 11707956 IL17A interleukin 17A gene DOID:1731 histoplasmosis ISO RGD:10787 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (mouse) PMID:19469707|REF_RGD_ID:9068939 11707956 IL17A interleukin 17A gene DOID:1936 atherosclerosis treatment ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:21300351|REF_RGD_ID:9170237 11707956 IL17A interleukin 17A gene DOID:2123 tularemia ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:20585449|REF_RGD_ID:4888521 11707956 IL17A interleukin 17A gene DOID:2316 brain ischemia ISO RGD:2888 D RGD:9068941 20200609 RGD protein, mRNA:increased expression:brain PMID:16305645|REF_RGD_ID:4846398 11707956 IL17A interleukin 17A gene DOID:2316 brain ischemia ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 11707956 IL17A interleukin 17A gene DOID:2316 brain ischemia ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:16305645|REF_RGD_ID:4846398 11707956 IL17A interleukin 17A gene DOID:2377 multiple sclerosis ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23517930 11707956 IL17A interleukin 17A gene DOID:2377 multiple sclerosis ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:21455110|REF_RGD_ID:8698672 11707956 IL17A interleukin 17A gene DOID:2755 Mycobacterium avium complex disease ISO RGD:735883 D RGD:9068941 20200609 RGD PMID:20797909|REF_RGD_ID:4888520 11707956 IL17A interleukin 17A gene DOID:2799 bronchiolitis obliterans ISO RGD:10787 D RGD:9068941 20200609 RGD mRNA:increased expression:trachea PMID:20393404|REF_RGD_ID:4143277 11707956 IL17A interleukin 17A gene DOID:2841 asthma ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:20351038|REF_RGD_ID:4888527 11707956 IL17A interleukin 17A gene DOID:2841 asthma ISO RGD:2888 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:Leukocytes, Mononuclear, lung, serum PMID:18060619|REF_RGD_ID:4839043 11707956 IL17A interleukin 17A gene DOID:2841 asthma ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:alveolar macrophage PMID:18941201|REF_RGD_ID:4889152 11707956 IL17A interleukin 17A gene DOID:2841 asthma ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:15730730|REF_RGD_ID:4889114 11707956 IL17A interleukin 17A gene DOID:2841 asthma susceptibility ISO RGD:735883 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs2275913 (human) PMID:20437253|REF_RGD_ID:4889139 11707956 IL17A interleukin 17A gene DOID:2942 bronchiolitis susceptibility ISO RGD:735883 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs2275913 (human) PMID:20437253|REF_RGD_ID:4889139 11707956 IL17A interleukin 17A gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:2888 D RGD:9068941 20200609 RGD protein:increased expression:lung, bronchioalveolar lavage fluid (rat) PMID:16200865|REF_RGD_ID:9068943 11707956 IL17A interleukin 17A gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:respiratory mucosa PMID:19604272|REF_RGD_ID:4889104 11707956 IL17A interleukin 17A gene DOID:331 central nervous system disease ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19940258 11707956 IL17A interleukin 17A gene DOID:3310 atopic dermatitis ISO RGD:10787 D RGD:9068941 20200609 RGD protein:increased expression:epidermis (mouse) PMID:22848348|REF_RGD_ID:9068417 11707956 IL17A interleukin 17A gene DOID:3310 atopic dermatitis severity ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:dermis, lymphocyte (human) PMID:18432274|REF_RGD_ID:9068436 11707956 IL17A interleukin 17A gene DOID:3310 atopic dermatitis treatment ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:24337738|REF_RGD_ID:8698670 11707956 IL17A interleukin 17A gene DOID:3388 periodontal disease ISO RGD:2888 D RGD:9068941 20200609 RGD protein:increased expression:gingiva (rat) PMID:21826658|REF_RGD_ID:9068940 11707956 IL17A interleukin 17A gene DOID:3482 plague ISO RGD:2888 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lymph node PMID:20876291|REF_RGD_ID:4781452 11707956 IL17A interleukin 17A gene DOID:3770 pulmonary fibrosis ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:18338242|PMID:20176803|REF_RGD_ID:4888529|REF_RGD_ID:4889110 11707956 IL17A interleukin 17A gene DOID:3770 pulmonary fibrosis ISO RGD:2888 D RGD:9068941 20200609 RGD protein:increased expression:lung, bronchioalveolar lavage fluid (rat) PMID:24721403|REF_RGD_ID:9179762 11707956 IL17A interleukin 17A gene DOID:3770 pulmonary fibrosis ISO RGD:735883 D RGD:9068941 20200609 RGD Idiopathic Pulmonary Fibrosis PMID:20176803|REF_RGD_ID:4888529 11707956 IL17A interleukin 17A gene DOID:417 autoimmune disease ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 11707956 IL17A interleukin 17A gene DOID:418 systemic scleroderma ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:22833167|REF_RGD_ID:8696037 11707956 IL17A interleukin 17A gene DOID:418 systemic scleroderma ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:epidermis, endodermis, mast cell (human) PMID:23335253|REF_RGD_ID:8696038 11707956 IL17A interleukin 17A gene DOID:4448 macular degeneration ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression: serum (human) PMID:21762495|REF_RGD_ID:9068453 11707956 IL17A interleukin 17A gene DOID:4448 macular degeneration susceptibility ISO RGD:735883 D RGD:9068941 20200609 RGD DNA:snps:promoter, 3' utr:c.-197G>A, c.*1249C>T (rs2275913, rs3748067) (human) PMID:25028103|REF_RGD_ID:9068445 11707956 IL17A interleukin 17A gene DOID:4481 allergic rhinitis ISO RGD:735883 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:21535180|REF_RGD_ID:5147409 11707956 IL17A interleukin 17A gene DOID:4481 allergic rhinitis susceptibility ISO RGD:735883 D RGD:9068941 20200609 RGD DNA:snp:promoter:c.-444A>G (human) PMID:22507625|REF_RGD_ID:9068429 11707956 IL17A interleukin 17A gene DOID:4483 rhinitis ISO RGD:735883 D RGD:9068941 20200609 RGD PMID:19927541|REF_RGD_ID:4889144 11707956 IL17A interleukin 17A gene DOID:4483 rhinitis ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa PMID:20506642|REF_RGD_ID:4889137 11707956 IL17A interleukin 17A gene DOID:4780 anti-basement membrane glomerulonephritis treatment ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:23826305|REF_RGD_ID:7365004 11707956 IL17A interleukin 17A gene DOID:552 pneumonia ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:20498020|PMID:22848348|REF_RGD_ID:4888524|REF_RGD_ID:9068417 11707956 IL17A interleukin 17A gene DOID:552 pneumonia ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11707956 IL17A interleukin 17A gene DOID:5844 myocardial infarction ISO RGD:2888 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart left ventricle (rat) PMID:23096364|REF_RGD_ID:9095344 11707956 IL17A interleukin 17A gene DOID:6000 congestive heart failure ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:19527710|REF_RGD_ID:4831836 11707956 IL17A interleukin 17A gene DOID:6000 congestive heart failure ISO RGD:2888 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:19909738|REF_RGD_ID:2325816 11707956 IL17A interleukin 17A gene DOID:630 genetic disease ISO RGD:735883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707956 IL17A interleukin 17A gene DOID:6543 acne ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:pilosebaceous unit, dermis (human) PMID:23924903|REF_RGD_ID:8698671 11707956 IL17A interleukin 17A gene DOID:6713 cerebrovascular disease ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29114965 11707956 IL17A interleukin 17A gene DOID:7147 ankylosing spondylitis treatment ISO RGD:735883 D RGD:9068941 20200609 RGD PMID:24035250|REF_RGD_ID:9068448 11707956 IL17A interleukin 17A gene DOID:7148 rheumatoid arthritis ISO RGD:735883 D RGD:9068941 20221117 RGD mRNA:increased expression:synovial (human) PMID:22660635|REF_RGD_ID:155663483 11707956 IL17A interleukin 17A gene DOID:7148 rheumatoid arthritis treatment ISO RGD:735883 D RGD:9068941 20200609 RGD PMID:20926833|REF_RGD_ID:9068415 11707956 IL17A interleukin 17A gene DOID:7188 autoimmune thyroiditis ISO RGD:10787 D RGD:9068941 20200609 RGD protein:increased expression:thyroid gland PMID:17046971|REF_RGD_ID:4841878 11707956 IL17A interleukin 17A gene DOID:820 myocarditis ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:18441464|REF_RGD_ID:4838736 11707956 IL17A interleukin 17A gene DOID:823 periapical periodontitis ISO RGD:2888 D RGD:9068941 20200609 RGD protein:increased expression:Periapical Tissue PMID:19166776|REF_RGD_ID:4832829 11707956 IL17A interleukin 17A gene DOID:841 extrinsic allergic alveolitis ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:19151189|REF_RGD_ID:4889106 11707956 IL17A interleukin 17A gene DOID:841 extrinsic allergic alveolitis ISO RGD:10787 D RGD:9068941 20200609 RGD associated with Silicosis PMID:20421647|REF_RGD_ID:4888525 11707956 IL17A interleukin 17A gene DOID:874 bacterial pneumonia ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:18802100|REF_RGD_ID:4889153 11707956 IL17A interleukin 17A gene DOID:874 bacterial pneumonia severity ISO RGD:10787 D RGD:9068941 20200820 RGD PMID:25398094|REF_RGD_ID:38501102 11707956 IL17A interleukin 17A gene DOID:8893 psoriasis ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:21172868|REF_RGD_ID:9068413 11707956 IL17A interleukin 17A gene DOID:8893 psoriasis ISO RGD:10787 D RGD:9068941 20200609 RGD mRNA:protein:increased expression:epidermis (human) PMID:23359500|REF_RGD_ID:8698663 11707956 IL17A interleukin 17A gene DOID:8893 psoriasis ISO RGD:735883 D RGD:9068941 20200609 RGD mRNA:protein:increased expression:epidermis (human) PMID:23359500|REF_RGD_ID:8698663 11707956 IL17A interleukin 17A gene DOID:8893 psoriasis treatment ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:24286371|REF_RGD_ID:8698656 11707956 IL17A interleukin 17A gene DOID:8893 psoriasis treatment ISO RGD:735883 D RGD:9068941 20200609 RGD PMID:20926833|REF_RGD_ID:9068415 11707956 IL17A interleukin 17A gene DOID:9000380 Spondylarthritis ISO RGD:2888 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:21905004|REF_RGD_ID:9068946 11707956 IL17A interleukin 17A gene DOID:9000469 Viral Myocarditis treatment ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:23702425|REF_RGD_ID:9227415 11707956 IL17A interleukin 17A gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:20413629|REF_RGD_ID:4888526 11707956 IL17A interleukin 17A gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:12814161|REF_RGD_ID:4889115 11707956 IL17A interleukin 17A gene DOID:9000955 Acute Otitis Media disease_progression ISO RGD:2888 D RGD:9068941 20201118 RGD protein:increased expression:serum (rat) PMID:27497403|REF_RGD_ID:40818299 11707956 IL17A interleukin 17A gene DOID:9000989 Pneumococcal Infections susceptibility ISO RGD:735883 D RGD:9068941 20200609 RGD associated with Bronchiolitis;DNA:SNP:promoter:rs2275913 (human) PMID:20437253|REF_RGD_ID:4889139 11707956 IL17A interleukin 17A gene DOID:9001472 Nasal Polyps ISO RGD:735883 D RGD:9068941 20200609 RGD associated with rhinitis; protein:increased expression:nasal mucosa PMID:21091665|REF_RGD_ID:4889132 11707956 IL17A interleukin 17A gene DOID:9001472 Nasal Polyps ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:nose, serum PMID:20506642|REF_RGD_ID:4889137 11707956 IL17A interleukin 17A gene DOID:9001488 Human Influenza ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:19265125|REF_RGD_ID:4889150 11707956 IL17A interleukin 17A gene DOID:9001488 Human Influenza ISO RGD:10787 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:19783685|REF_RGD_ID:4889102 11707956 IL17A interleukin 17A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:10787 D RGD:9068941 20201023 RGD protein:increased expression:liver, serum (mouse) PMID:28465467|REF_RGD_ID:39939037 11707956 IL17A interleukin 17A gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2888 D RGD:9068941 20220331 RGD PMID:30346985|REF_RGD_ID:151665755 11707956 IL17A interleukin 17A gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:19995896|REF_RGD_ID:4888531 11707956 IL17A interleukin 17A gene DOID:9002211 Hyperalgesia ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:23192794|REF_RGD_ID:9068942 11707956 IL17A interleukin 17A gene DOID:9002211 Hyperalgesia treatment ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:23246025|REF_RGD_ID:9222699 11707956 IL17A interleukin 17A gene DOID:9002457 Experimental Arthritis ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:20925596|REF_RGD_ID:4781444 11707956 IL17A interleukin 17A gene DOID:9002457 Experimental Arthritis ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:20925596|REF_RGD_ID:4781444 11707956 IL17A interleukin 17A gene DOID:9002457 Experimental Arthritis ISO RGD:2888 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:23377547|REF_RGD_ID:9130803 11707956 IL17A interleukin 17A gene DOID:9002457 Experimental Arthritis ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20974942 11707956 IL17A interleukin 17A gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:21194185|REF_RGD_ID:9068936 11707956 IL17A interleukin 17A gene DOID:9002605 Delayed Hypersensitivity ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:19373578|REF_RGD_ID:4888523 11707956 IL17A interleukin 17A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:16785554|REF_RGD_ID:4889113 11707956 IL17A interleukin 17A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:20003332|REF_RGD_ID:4888522 11707956 IL17A interleukin 17A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2888 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lymph node PMID:19233473|REF_RGD_ID:4831840 11707956 IL17A interleukin 17A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:16200068|REF_RGD_ID:9212317 11707956 IL17A interleukin 17A gene DOID:9003157 Respiratory Sounds ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:20199725|REF_RGD_ID:4889143 11707956 IL17A interleukin 17A gene DOID:9003646 Arterial Thrombosis ISO RGD:10787 D RGD:9068941 20200609 RGD mouse protein in a rat model PMID:24940514|REF_RGD_ID:9068933 11707956 IL17A interleukin 17A gene DOID:9003657 Perennial Allergic Rhinitis severity ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19226302|REF_RGD_ID:4889151 11707956 IL17A interleukin 17A gene DOID:9004283 Transplant Rejection ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:20651239|REF_RGD_ID:9068426 11707956 IL17A interleukin 17A gene DOID:9004283 Transplant Rejection ISO RGD:2888 D RGD:9068941 20200609 RGD protein:increased expression:liver, serum (rat) PMID:21043049|REF_RGD_ID:4781440 11707956 IL17A interleukin 17A gene DOID:9004283 Transplant Rejection treatment ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:23429965|REF_RGD_ID:9068938 11707956 IL17A interleukin 17A gene DOID:9004484 Sepsis ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:15776385|REF_RGD_ID:4888507 11707956 IL17A interleukin 17A gene DOID:9004610 Acute Lung Injury ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28600744 11707956 IL17A interleukin 17A gene DOID:9004945 Ocular Toxoplasmosis ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor (human) PMID:22927448|REF_RGD_ID:8698652 11707956 IL17A interleukin 17A gene DOID:9004945 Ocular Toxoplasmosis treatment ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:22927448|REF_RGD_ID:8698652 11707956 IL17A interleukin 17A gene DOID:9005036 Bacteremia ISO RGD:735883 D RGD:9068941 20200609 RGD associated with Respiratory Distress Syndrome, Adult; protein:increased expression:serum PMID:21062445|REF_RGD_ID:5128683 11707956 IL17A interleukin 17A gene DOID:9005106 Animal Toxoplasmosis ISO RGD:10787 D RGD:9068941 20200820 RGD mRNA,protein:increased expression:placenta: PMID:21923716|REF_RGD_ID:38501105 11707956 IL17A interleukin 17A gene DOID:9005236 Drug Eruptions ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31150805 11707956 IL17A interleukin 17A gene DOID:9005372 Inflammation ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22617429 11707956 IL17A interleukin 17A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2888 D RGD:9068941 20200609 RGD protein:increased expression:gingiva (rat) PMID:21826658|REF_RGD_ID:9068940 11707956 IL17A interleukin 17A gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:24117055|REF_RGD_ID:9074484 11707956 IL17A interleukin 17A gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:2888 D RGD:9068941 20200609 RGD mRNA:increased expression:lymph node (rat) PMID:21686325|REF_RGD_ID:9158567 11707956 IL17A interleukin 17A gene DOID:9005647 Experimental Autoimmune Uveitis treatment ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:23626769|REF_RGD_ID:9173789 11707956 IL17A interleukin 17A gene DOID:9005749 Necrosis ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24949944 11707956 IL17A interleukin 17A gene DOID:9005941 Rhinosinusitis ISO RGD:735883 D RGD:9068941 20200609 RGD associated with Asthma;mRNA, protein:increased expression:nasal polyps (human) PMID:19672092|REF_RGD_ID:4889146 11707956 IL17A interleukin 17A gene DOID:9005966 Staphylococcal Skin Infections ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:24614654|REF_RGD_ID:9068425 11707956 IL17A interleukin 17A gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:10785455|REF_RGD_ID:4888513 11707956 IL17A interleukin 17A gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:2888 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:sciatic nerve, inguinal lymph node PMID:19207263|REF_RGD_ID:4831923 11707956 IL17A interleukin 17A gene DOID:9006771 Chronic Rhinosinusitis ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:uncinate process, nasal mucosa (human) PMID:23613503|REF_RGD_ID:8696039 11707956 IL17A interleukin 17A gene DOID:9006779 Discoid Lupus Erythematosus ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:epidermis (human) PMID:20493423|REF_RGD_ID:8698667 11707956 IL17A interleukin 17A gene DOID:9006844 Streptococcal Infections ISO RGD:10787 D RGD:9068941 20200609 RGD protein:increased expression:serum (mouse) PMID:22384827|REF_RGD_ID:8698662 11707956 IL17A interleukin 17A gene DOID:9006854 MPTP Poisoning ISO RGD:735883 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31351185 11707956 IL17A interleukin 17A gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:735883 D RGD:9068941 20200609 RGD DNA:SNP: :rs7747909(human) PMID:17703412|REF_RGD_ID:4889847 11707956 IL17A interleukin 17A gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19633216|PMID:24949944 11707956 IL17A interleukin 17A gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:22030025|REF_RGD_ID:9068944 11707956 IL17A interleukin 17A gene DOID:9008 psoriatic arthritis severity ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:24567524|REF_RGD_ID:8698658 11707956 IL17A interleukin 17A gene DOID:9008 psoriatic arthritis treatment ISO RGD:735883 D RGD:9068941 20200609 RGD PMID:23361084|REF_RGD_ID:9068444 11707956 IL17A interleukin 17A gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes treatment ISO RGD:735883 D RGD:9068941 20200609 RGD PMID:21637346|REF_RGD_ID:9068438 11707956 IL17A interleukin 17A gene DOID:9008727 Ige Responsiveness, Atopic ISO RGD:735883 D RGD:9068941 20200609 RGD associated with Nasal Polyps;protein:increased expression:nasal polyps (human) PMID:24141678|REF_RGD_ID:9068428 11707956 IL17A interleukin 17A gene DOID:9008939 Breast Neoplasms treatment ISO RGD:10787 D RGD:9068941 20200609 RGD associated with Arthritis, Experimental PMID:24674692|REF_RGD_ID:9068440 11707956 IL17A interleukin 17A gene DOID:9008945 Gram-Negative Bacterial Infections susceptibility ISO RGD:735883 D RGD:9068941 20200609 RGD Moraxellaceae Infections; associated with Bronchiolitis;DNA:SNP:promoter:rs2275913 (human) PMID:20437253|REF_RGD_ID:4889139 11707956 IL17A interleukin 17A gene DOID:9074 systemic lupus erythematosus ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:epidermis (human) PMID:20493423|REF_RGD_ID:8698667 11707956 IL17A interleukin 17A gene DOID:9074 systemic lupus erythematosus ISO RGD:735883 D RGD:9068941 20221117 RGD mRNA:increased expression:kidney (human) PMID:22660635|REF_RGD_ID:155663483 11707956 IL17A interleukin 17A gene DOID:9111 cutaneous leishmaniasis ISO RGD:735883 D RGD:9068941 20200806 RGD mRNA:increased expression:Peripheral blood mononuclear cell: PMID:29205403|REF_RGD_ID:38455981 11707956 IL17A interleukin 17A gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:2888 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 11707969 DENND10 DENN domain containing 10 gene DOID:630 genetic disease ISO RGD:1344685 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707978 CDH24 cadherin 24 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1353170 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11707978 CDH24 cadherin 24 gene DOID:630 genetic disease ISO RGD:1353170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707978 CDH24 cadherin 24 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1353170 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11707978 CDH24 cadherin 24 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1353170 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11707995 SV2A synaptic vesicle glycoprotein 2A gene DOID:12377 spinal muscular atrophy ISO RGD:733212 D RGD:9068941 20211203 RGD protein:decreased expression:transversus abdominis muscle, axon terminus (mouse) PMID:28173138|REF_RGD_ID:11535337 11707995 SV2A synaptic vesicle glycoprotein 2A gene DOID:1540 parathyroid carcinoma ISO RGD:1604842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11707995 SV2A synaptic vesicle glycoprotein 2A gene DOID:630 genetic disease ISO RGD:1604842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11707995 SV2A synaptic vesicle glycoprotein 2A gene DOID:9007090 Experimental Seizures ISO RGD:619715 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.L174Q(rat) PMID:27265781|REF_RGD_ID:12792961 11707995 SV2A synaptic vesicle glycoprotein 2A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11708012 FGF16 fibroblast growth factor 16 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11708012 FGF16 fibroblast growth factor 16 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:733065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11708012 FGF16 fibroblast growth factor 16 gene DOID:0111813 syndactyly type 8 ISO RGD:733065 D RGD:7240710 20180130 OMIM 11708012 FGF16 fibroblast growth factor 16 gene DOID:0111813 syndactyly type 8 ISO RGD:733065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndactyly type 8 PMID:23709756|PMID:24878828 11708012 FGF16 fibroblast growth factor 16 gene DOID:12849 autistic disorder ISO RGD:733065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11708018 ZC2HC1A zinc finger C2HC-type containing 1A gene DOID:630 genetic disease ISO RGD:1602891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11708036 CNTN3 contactin 3 gene DOID:12849 autistic disorder ISO RGD:732842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18621663 11708036 CNTN3 contactin 3 gene DOID:3042 allergic contact dermatitis ISO RGD:732842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17597826 11708036 CNTN3 contactin 3 gene DOID:630 genetic disease ISO RGD:732842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11708066 HSF4 heat shock transcription factor 4 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1321924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11708066 HSF4 heat shock transcription factor 4 gene DOID:0110255 cataract 5 multiple types ISO RGD:1321924 D RGD:7240710 20180130 OMIM 11708066 HSF4 heat shock transcription factor 4 gene DOID:0110255 cataract 5 multiple types ISO RGD:1321924 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:12089525|PMID:15959809|PMID:16199547|PMID:16876512|PMID:17576681|PMID:18941546|PMID:20421844|PMID:20670914|PMID:23329665|PMID:24045990|PMID:24637349|PMID:24975927|PMID:25741868|PMID:28492532|PMID:3233780|PMID:9536098 11708066 HSF4 heat shock transcription factor 4 gene DOID:630 genetic disease ISO RGD:1321924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11708066 HSF4 heat shock transcription factor 4 gene DOID:83 cataract ISO RGD:1321924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract PMID:25741868 11708100 ZNF607 zinc finger protein 607 gene DOID:630 genetic disease ISO RGD:1343824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11708117 TTC21A tetratricopeptide repeat domain 21A gene DOID:0111927 spermatogenic failure 37 ISO RGD:1348204 D RGD:7240710 20190612 OMIM 11708117 TTC21A tetratricopeptide repeat domain 21A gene DOID:0111927 spermatogenic failure 37 ISO RGD:1348204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 37 PMID:30929735 11708117 TTC21A tetratricopeptide repeat domain 21A gene DOID:630 genetic disease ISO RGD:1348204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11708157 STXBP1 syntaxin binding protein 1 gene DOID:0050562 West syndrome ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant | ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: West syndrome PMID:20887364|PMID:21193638|PMID:22612257|PMID:23934111|PMID:25326390|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26865513|PMID:27779742|PMID:28492532|PMID:29186148|PMID:30174244|PMID:30185235|PMID:30266908|PMID:30540253|PMID:30842647|PMID:31221716|PMID:31474318|PMID:32112430 11708157 STXBP1 syntaxin binding protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:18469812|PMID:19557857|PMID:20876469|PMID:20887364|PMID:21762454|PMID:21770924|PMID:22211739|PMID:22368301|PMID:22495311|PMID:22612257|PMID:22722545|PMID:23409955|PMID:23662938|PMID:23708187|PMID:23757202|PMID:23934111|PMID:24033266|PMID:24189369|PMID:24315539|PMID:24623842|PMID:24781210|PMID:25008876|PMID:25131622|PMID:25356970|PMID:25418441|PMID:25497044|PMID:25533962|PMID:25556537|PMID:25658047|PMID:25693842|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26648591|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27184330|PMID:27779742|PMID:28133863|PMID:28135719|PMID:28387360|PMID:28387369|PMID:28492532|PMID:28628100|PMID:28947817|PMID:29056246|PMID:29186148|PMID:29264391|PMID:29314583|PMID:29655203|PMID:29896790|PMID:30109124|PMID:30397338|PMID:30504930|PMID:30842647|PMID:31255830|PMID:31474318|PMID:32238909|PMID:32581362|PMID:9536098 11708157 STXBP1 syntaxin binding protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737322 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:18469812|PMID:19557857|PMID:20887364|PMID:21762454|PMID:21770924|PMID:22495311|PMID:22612257|PMID:22722545|PMID:23409955|PMID:23757202|PMID:23934111|PMID:24033266|PMID:24189369|PMID:24315539|PMID:24623842|PMID:24781210|PMID:25131622|PMID:25356970|PMID:25418441|PMID:25497044|PMID:25533962|PMID:25556537|PMID:25693842|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27779742|PMID:28133863|PMID:28135719|PMID:28492532|PMID:29186148|PMID:29264391|PMID:29655203|PMID:29761117|PMID:30397338|PMID:30504930|PMID:30842647|PMID:31255830|PMID:31474318|PMID:32238909|PMID:32581362|PMID:9536098 11708157 STXBP1 syntaxin binding protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737322 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:18469812|PMID:19557857|PMID:20603329|PMID:20876469|PMID:20887364|PMID:21062273|PMID:21193638|PMID:21364700|PMID:21762454|PMID:21770924|PMID:21900502|PMID:22211739|PMID:22368301|PMID:22495311|PMID:22612257|PMID:22722545|PMID:23020937|PMID:23409955|PMID:23662938|PMID:23708187|PMID:23757202|PMID:23858467|PMID:23934111|PMID:24033266|PMID:24189369|PMID:24315539|PMID:24623842|PMID:24781210|PMID:25008876|PMID:25131622|PMID:25326390|PMID:25356970|PMID:25418441|PMID:25497044|PMID:25533962|PMID:25556537|PMID:25640679|PMID:25658047|PMID:25693842|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26648591|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27184330|PMID:27652284|PMID:27779742|PMID:27798625|PMID:28133863|PMID:28135719|PMID:28387360|PMID:28387369|PMID:28492532|PMID:28628100|PMID:28947817|PMID:29056246|PMID:29067685|PMID:29186148|PMID:29264391|PMID:29314583|PMID:29538625|PMID:29655203|PMID:29761117|PMID:29896790|PMID:30174244|PMID:30185235|PMID:30266908|PMID:30397338|PMID:30488659|PMID:30504930|PMID:30540253|PMID:30842647|PMID:31175295|PMID:31221716|PMID:31255830|PMID:31332438|PMID:31474318|PMID:31780880|PMID:32112430|PMID:32238909|PMID:32521962|PMID:32581362|PMID:32643187|PMID:32960281|PMID:33004838|PMID:33196034|PMID:33206935|PMID:33272087|PMID:34489640|PMID:35007884|PMID:35655584|PMID:9536098 11708157 STXBP1 syntaxin binding protein 1 gene DOID:0050753 cerebellar ataxia ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:20887364|PMID:24033266|PMID:25533962|PMID:25741868|PMID:26384463|PMID:26865513|PMID:26918652|PMID:27159321|PMID:28135719|PMID:28492532 11708157 STXBP1 syntaxin binding protein 1 gene DOID:0050889 non-syndromic intellectual disability ISO RGD:737322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic intellectual disability PMID:25741868|PMID:28708303 11708157 STXBP1 syntaxin binding protein 1 gene DOID:0050952 spastic ataxia ISO RGD:737322 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:18414213|PMID:24781210|PMID:25356970|PMID:25741868|PMID:26795593|PMID:26865513|PMID:26993267|PMID:28492532|PMID:29264391|PMID:32643187 11708157 STXBP1 syntaxin binding protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737322 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:23858467|PMID:25741868|PMID:28492532|PMID:30504930|PMID:31175295|PMID:33272087 11708157 STXBP1 syntaxin binding protein 1 gene DOID:0060470 salt and pepper syndrome ISO RGD:737322 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: GM3 synthase deficiency | ClinVar Annotator: match by term: Infantile epilepsy syndrome PMID:18414213|PMID:19557857|PMID:20887364|PMID:21762454|PMID:22495311|PMID:22612257|PMID:23409955|PMID:23934111|PMID:24033266|PMID:24781210|PMID:25326635|PMID:25356970|PMID:25497044|PMID:25533962|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27779742|PMID:28135719|PMID:28492532|PMID:29186148|PMID:29264391|PMID:29761117|PMID:30842647|PMID:31474318|PMID:32238909 11708157 STXBP1 syntaxin binding protein 1 gene DOID:0060470 salt and pepper syndrome ISO RGD:737322 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Infantile epilepsy syndrome PMID:18414213|PMID:19557857|PMID:20887364|PMID:21762454|PMID:22495311|PMID:22612257|PMID:23409955|PMID:23934111|PMID:24033266|PMID:24781210|PMID:25326635|PMID:25356970|PMID:25497044|PMID:25533962|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26648591|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27779742|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28947817|PMID:29186148|PMID:29264391|PMID:29761117|PMID:30185235|PMID:30842647|PMID:31474318|PMID:32238909|PMID:32643187 11708157 STXBP1 syntaxin binding protein 1 gene DOID:0060470 salt and pepper syndrome ISO RGD:737322 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Infantile epilepsy syndrome PMID:18414213|PMID:19557857|PMID:20887364|PMID:21762454|PMID:22495311|PMID:22612257|PMID:23409955|PMID:23934111|PMID:24033266|PMID:24781210|PMID:25326635|PMID:25356970|PMID:25473036|PMID:25497044|PMID:25533962|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26648591|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27779742|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28947817|PMID:29186148|PMID:29264391|PMID:29761117|PMID:30185235|PMID:30842647|PMID:31474318|PMID:32238909|PMID:32643187 11708157 STXBP1 syntaxin binding protein 1 gene DOID:0060470 salt and pepper syndrome ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile epilepsy syndrome PMID:17576681|PMID:18414213|PMID:19557857|PMID:20887364|PMID:21762454|PMID:21770924|PMID:22495311|PMID:22612257|PMID:23409955|PMID:23708187|PMID:23934111|PMID:24033266|PMID:24315539|PMID:24781210|PMID:25008876|PMID:25326635|PMID:25356970|PMID:25473036|PMID:25497044|PMID:25533962|PMID:25693842|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26544041|PMID:26648591|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27184330|PMID:27779742|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28947817|PMID:29186148|PMID:29264391|PMID:29761117|PMID:30185235|PMID:30842647|PMID:31474318|PMID:32238909|PMID:32643187|PMID:9536098 11708157 STXBP1 syntaxin binding protein 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:737322 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Infantile spasm PMID:18414213|PMID:20887364|PMID:22612257|PMID:24781210|PMID:25356970|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26795593|PMID:26865513|PMID:26993267|PMID:27779742|PMID:28492532|PMID:29264391|PMID:30185235|PMID:30842647|PMID:32643187 11708157 STXBP1 syntaxin binding protein 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:737322 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11708157 STXBP1 syntaxin binding protein 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:21193638|PMID:23934111|PMID:25326390|PMID:25533962|PMID:25741868|PMID:26865513|PMID:28492532|PMID:29186148|PMID:29761117|PMID:30174244|PMID:30266908|PMID:30540253|PMID:31221716|PMID:31474318|PMID:32112430 11708157 STXBP1 syntaxin binding protein 1 gene DOID:0080436 developmental and epileptic encephalopathy 4 ISO RGD:737322 D RGD:7240710 20180130 OMIM 11708157 STXBP1 syntaxin binding protein 1 gene DOID:0080436 developmental and epileptic encephalopathy 4 ISO RGD:737322 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4 | ClinVar Annotator: match by term: STXBP1-associated neurodevelopmental disorder PMID:16199547|PMID:17576681|PMID:18414213|PMID:18469812|PMID:19557857|PMID:20876469|PMID:20887364|PMID:21062273|PMID:21193638|PMID:21204804|PMID:21364700|PMID:21762454|PMID:21770924|PMID:22495311|PMID:22612257|PMID:23409955|PMID:23533165|PMID:23662938|PMID:23708187|PMID:23757202|PMID:23858467|PMID:23934111|PMID:24033266|PMID:24189369|PMID:24315539|PMID:24623842|PMID:24781210|PMID:25008876|PMID:25131622|PMID:25284778|PMID:25326390|PMID:25326635|PMID:25356970|PMID:25418441|PMID:25473036|PMID:25497044|PMID:25533962|PMID:25693842|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:25951140|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26648591|PMID:26740508|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27184330|PMID:27652284|PMID:27779742|PMID:28133863|PMID:28135719|PMID:28191889|PMID:28387369|PMID:28492532|PMID:28628100|PMID:28947817|PMID:29067685|PMID:29186148|PMID:29264391|PMID:29314583|PMID:29389947|PMID:29655203|PMID:29758562|PMID:29761117|PMID:29896790|PMID:30174244|PMID:30185235|PMID:30266908|PMID:30488659|PMID:30504930|PMID:30540253|PMID:30842647|PMID:31175295|PMID:31221716|PMID:31255830|PMID:31474318|PMID:31780880|PMID:31855252|PMID:32112430|PMID:32238909|PMID:32581362|PMID:32643187|PMID:33004838|PMID:33196034|PMID:33272087|PMID:34008892|PMID:34906502|PMID:35002760|PMID:35007884|PMID:35655584|PMID:9536098 11708157 STXBP1 syntaxin binding protein 1 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:737322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11708157 STXBP1 syntaxin binding protein 1 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:737322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 11708157 STXBP1 syntaxin binding protein 1 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:11361 D RGD:9068941 20200609 RGD PMID:26216965|REF_RGD_ID:11532386 11708157 STXBP1 syntaxin binding protein 1 gene DOID:0110139 Bardet-Biedl syndrome 17 ISO RGD:11361 D RGD:9068941 20200609 RGD protein:increased expression:photoreceptor outer segment layer PMID:26216965|REF_RGD_ID:11532386 11708157 STXBP1 syntaxin binding protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:737322 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:18469812|PMID:19557857|PMID:20603329|PMID:20876469|PMID:20887364|PMID:21062273|PMID:21193638|PMID:21364700|PMID:21762454|PMID:21770924|PMID:21900502|PMID:22211739|PMID:22368301|PMID:22495311|PMID:22612257|PMID:22722545|PMID:23020937|PMID:23409955|PMID:23662938|PMID:23708187|PMID:23757202|PMID:23858467|PMID:23934111|PMID:24033266|PMID:24189369|PMID:24315539|PMID:24623842|PMID:24781210|PMID:25008876|PMID:25131622|PMID:25326390|PMID:25356970|PMID:25418441|PMID:25497044|PMID:25533962|PMID:25556537|PMID:25640679|PMID:25658047|PMID:25693842|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26648591|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27184330|PMID:27652284|PMID:27779742|PMID:27798625|PMID:28133863|PMID:28135719|PMID:28387360|PMID:28387369|PMID:28492532|PMID:28628100|PMID:28947817|PMID:29056246|PMID:29067685|PMID:29186148|PMID:29264391|PMID:29314583|PMID:29538625|PMID:29655203|PMID:29761117|PMID:29896790|PMID:30174244|PMID:30185235|PMID:30266908|PMID:30397338|PMID:30488659|PMID:30504930|PMID:30540253|PMID:30842647|PMID:31175295|PMID:31221716|PMID:31255830|PMID:31332438|PMID:31474318|PMID:31780880|PMID:32112430|PMID:32238909|PMID:32521962|PMID:32581362|PMID:32643187|PMID:32960281|PMID:33004838|PMID:33196034|PMID:33206935|PMID:33272087|PMID:34489640|PMID:35007884|PMID:35655584|PMID:9536098 11708157 STXBP1 syntaxin binding protein 1 gene DOID:10283 prostate cancer ISO RGD:737322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11708157 STXBP1 syntaxin binding protein 1 gene DOID:1059 intellectual disability ISO RGD:737322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:20887364|PMID:21770924|PMID:22612257|PMID:23708187|PMID:23934111|PMID:24033266|PMID:24189369|PMID:24315539|PMID:25008876|PMID:25418441|PMID:25533962|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26865513|PMID:26918652|PMID:27159321|PMID:27779742|PMID:28133863|PMID:28135719|PMID:28492532|PMID:30842647|PMID:32581362 11708157 STXBP1 syntaxin binding protein 1 gene DOID:1059 intellectual disability ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Severe intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:20887364|PMID:21770924|PMID:22612257|PMID:23708187|PMID:23934111|PMID:24033266|PMID:24189369|PMID:24315539|PMID:25008876|PMID:25418441|PMID:25533962|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26865513|PMID:26918652|PMID:27159321|PMID:27779742|PMID:28133863|PMID:28135719|PMID:28492532|PMID:29067685|PMID:29186148|PMID:30185235|PMID:30842647|PMID:32581362|PMID:33196034 11708157 STXBP1 syntaxin binding protein 1 gene DOID:10907 microcephaly ISO RGD:737322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11708157 STXBP1 syntaxin binding protein 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:11361 D RGD:9068941 20200609 RGD PMID:26604869|REF_RGD_ID:12903957 11708157 STXBP1 syntaxin binding protein 1 gene DOID:12849 autistic disorder ISO RGD:737322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic disorder PMID:23708187|PMID:23934111|PMID:26514728|PMID:26544041|PMID:26633542|PMID:28492532|PMID:32581362 11708157 STXBP1 syntaxin binding protein 1 gene DOID:12849 autistic disorder ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic disorder PMID:23708187|PMID:23934111|PMID:25741868|PMID:26514728|PMID:26544041|PMID:26633542|PMID:28492532|PMID:32581362 11708157 STXBP1 syntaxin binding protein 1 gene DOID:1289 neurodegenerative disease ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder PMID:23708187|PMID:23934111|PMID:25741868|PMID:26514728|PMID:26544041|PMID:26633542|PMID:28492532|PMID:32581362 11708157 STXBP1 syntaxin binding protein 1 gene DOID:1826 epilepsy ISO RGD:737322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:24189369|PMID:25418441|PMID:25741868|PMID:28133863|PMID:28492532 11708157 STXBP1 syntaxin binding protein 1 gene DOID:540 strabismus ISO RGD:737322 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Strabismus PMID:20887364|PMID:22612257|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26865513|PMID:27779742|PMID:28492532|PMID:30185235|PMID:30842647 11708157 STXBP1 syntaxin binding protein 1 gene DOID:630 genetic disease ISO RGD:737322 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16806828|PMID:16829045|PMID:17301226|PMID:17576681|PMID:18414213|PMID:18469812|PMID:19557857|PMID:20196795|PMID:20876469|PMID:20887364|PMID:21062273|PMID:21204804|PMID:21364700|PMID:21762454|PMID:21770924|PMID:22495311|PMID:22722545|PMID:23020937|PMID:23409955|PMID:23708187|PMID:23858467|PMID:23934111|PMID:24315539|PMID:24623842|PMID:24781210|PMID:24836964|PMID:25008876|PMID:25131622|PMID:25284778|PMID:25356970|PMID:25533962|PMID:25556537|PMID:25621899|PMID:25714420|PMID:25741868|PMID:25914188|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26537360|PMID:26544041|PMID:26633542|PMID:26740508|PMID:26795593|PMID:26865513|PMID:26993267|PMID:27069701|PMID:27184330|PMID:27652284|PMID:27779742|PMID:27798625|PMID:28492532|PMID:29067685|PMID:29186148|PMID:29264391|PMID:29761117|PMID:29896790|PMID:30504930|PMID:31175295|PMID:31255830|PMID:32238909|PMID:32581362|PMID:32643187|PMID:33196034|PMID:33272087|PMID:35007884|PMID:35655584|PMID:9536098|PMID:9545644 11708157 STXBP1 syntaxin binding protein 1 gene DOID:9000495 Tremor ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: tremors PMID:20887364|PMID:24033266|PMID:25533962|PMID:25741868|PMID:26384463|PMID:26865513|PMID:26918652|PMID:27159321|PMID:28135719|PMID:28492532 11708157 STXBP1 syntaxin binding protein 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:20887364|PMID:21762454|PMID:23934111|PMID:24033266|PMID:25533962|PMID:25741868|PMID:26384463|PMID:26648591|PMID:26865513|PMID:26918652|PMID:27159321|PMID:27171548|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28947817|PMID:32581362 11708157 STXBP1 syntaxin binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737322 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889|PMID:29942082 11708157 STXBP1 syntaxin binding protein 1 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:737322 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:18469812|PMID:29929108 11708157 STXBP1 syntaxin binding protein 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:737322 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:20887364|PMID:22612257|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26865513|PMID:27779742|PMID:28492532|PMID:30185235|PMID:30842647 11708157 STXBP1 syntaxin binding protein 1 gene DOID:9007428 Muscle Spasticity ISO RGD:737322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spasticity 11708157 STXBP1 syntaxin binding protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:737322 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:20887364|PMID:22612257|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26865513|PMID:27779742|PMID:28492532|PMID:30185235|PMID:30842647 11708157 STXBP1 syntaxin binding protein 1 gene DOID:9008582 Developmental Disease ISO RGD:737322 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:22495311|PMID:23409955|PMID:25741868|PMID:26467025|PMID:26514728|PMID:26865513|PMID:27069701|PMID:28492532 11708157 STXBP1 syntaxin binding protein 1 gene DOID:9650 pathologic nystagmus ISO RGD:737322 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Horizontal nystagmus PMID:20887364|PMID:22612257|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26865513|PMID:27779742|PMID:28492532|PMID:30185235|PMID:30842647 11708186 SAXO5 stabilizer of axonemal microtubules 5 gene DOID:0080490 mucolipidosis type IV ISO RGD:1602810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11708186 SAXO5 stabilizer of axonemal microtubules 5 gene DOID:0110790 hereditary spastic paraplegia 39 ISO RGD:1602810 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 PMID:28492532 11708208 HNRNPAB heterogeneous nuclear ribonucleoprotein A/B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:730896 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11708208 HNRNPAB heterogeneous nuclear ribonucleoprotein A/B gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:730896 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11708208 HNRNPAB heterogeneous nuclear ribonucleoprotein A/B gene DOID:0112103 Sotos syndrome 1 ISO RGD:730896 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11708208 HNRNPAB heterogeneous nuclear ribonucleoprotein A/B gene DOID:224 transient cerebral ischemia treatment ISO RGD:69255 D RGD:9068941 20200609 RGD PMID:22366221|REF_RGD_ID:9999181 11708208 HNRNPAB heterogeneous nuclear ribonucleoprotein A/B gene DOID:630 genetic disease ISO RGD:730896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11708208 HNRNPAB heterogeneous nuclear ribonucleoprotein A/B gene DOID:684 hepatocellular carcinoma severity ISO RGD:730896 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:24638979|REF_RGD_ID:10059322 11708208 HNRNPAB heterogeneous nuclear ribonucleoprotein A/B gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15538050 11708229 BRWD3 bromodomain and WD repeat domain containing 3 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1354337 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability PMID:28492532 11708229 BRWD3 bromodomain and WD repeat domain containing 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1354337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11708229 BRWD3 bromodomain and WD repeat domain containing 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11708229 BRWD3 bromodomain and WD repeat domain containing 3 gene DOID:0112045 non-syndromic X-linked intellectual disability 93 ISO RGD:1354337 D RGD:7240710 20180130 OMIM 11708229 BRWD3 bromodomain and WD repeat domain containing 3 gene DOID:0112045 non-syndromic X-linked intellectual disability 93 ISO RGD:1354337 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: BRWD3-Related Disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 93 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH MACROCEPHALY PMID:17668385|PMID:18414213|PMID:25326637|PMID:25741868|PMID:28492532|PMID:30628072|PMID:36937954|PMID:7943039 11708229 BRWD3 bromodomain and WD repeat domain containing 3 gene DOID:1059 intellectual disability ISO RGD:1354337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 11708229 BRWD3 bromodomain and WD repeat domain containing 3 gene DOID:12849 autistic disorder ISO RGD:1354337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11708229 BRWD3 bromodomain and WD repeat domain containing 3 gene DOID:630 genetic disease ISO RGD:1354337 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21468892|PMID:25741868|PMID:28492532 11708229 BRWD3 bromodomain and WD repeat domain containing 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1354337 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:36937954 11708283 SMYD5 SMYD family member 5 gene DOID:0050473 Alstrom syndrome ISO RGD:1319335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 11708283 SMYD5 SMYD family member 5 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1319335 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11708283 SMYD5 SMYD family member 5 gene DOID:543 dystonia ISO RGD:1319335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11708283 SMYD5 SMYD family member 5 gene DOID:630 genetic disease ISO RGD:1319335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11708283 SMYD5 SMYD family member 5 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1319335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11708306 PNRC1 proline rich nuclear receptor coactivator 1 gene DOID:0080600 COVID-19 ISO RGD:1354036 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 11708306 PNRC1 proline rich nuclear receptor coactivator 1 gene DOID:630 genetic disease ISO RGD:1354036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11708306 PNRC1 proline rich nuclear receptor coactivator 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1354036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11708325 RIPPLY2 ripply transcriptional repressor 2 gene DOID:0050568 spondylocostal dysostosis ISO RGD:1318698 D RGD:9068941 20220825 MouseDO OMIM:122600 | OMIM:277300 | OMIM:608681 | OMIM:609813 | OMIM:613686 11708325 RIPPLY2 ripply transcriptional repressor 2 gene DOID:0080590 Klippel-Feil syndrome 2 ISO RGD:1604749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 2, autosomal recessive PMID:25343988|PMID:26238661 11708325 RIPPLY2 ripply transcriptional repressor 2 gene DOID:0112360 spondylocostal dysostosis 6 ISO RGD:1604749 D RGD:7240710 20180130 OMIM 11708325 RIPPLY2 ripply transcriptional repressor 2 gene DOID:0112360 spondylocostal dysostosis 6 ISO RGD:1604749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 6, autosomal recessive PMID:25343988|PMID:25741868|PMID:28492532 11708325 RIPPLY2 ripply transcriptional repressor 2 gene DOID:0112362 spondylocostal dysostosis 2 ISO RGD:1604749 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive PMID:25343988|PMID:25741868|PMID:28492532 11708325 RIPPLY2 ripply transcriptional repressor 2 gene DOID:630 genetic disease ISO RGD:1604749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11708325 RIPPLY2 ripply transcriptional repressor 2 gene DOID:9006006 Spondylocostal Dysostosis, Autosomal Recessive ISO RGD:1604749 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11708363 LRRC27 leucine rich repeat containing 27 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1318562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11708363 LRRC27 leucine rich repeat containing 27 gene DOID:630 genetic disease ISO RGD:1318562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11708405 PDCD10 programmed cell death 10 gene DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies ISO RGD:1351056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial encephalopathy with neuroserpin inclusion bodies PMID:28492532 11708405 PDCD10 programmed cell death 10 gene DOID:0060669 cerebral cavernous malformation ISO RGD:1351056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation PMID:15543491|PMID:18035376|PMID:18300272|PMID:23485406|PMID:23595507|PMID:23801932|PMID:25741868|PMID:26896283|PMID:28492532 11708405 PDCD10 programmed cell death 10 gene DOID:0060671 cerebral cavernous malformation 3 ISO RGD:1351056 D RGD:7240710 20180130 OMIM 11708405 PDCD10 programmed cell death 10 gene DOID:0060671 cerebral cavernous malformation 3 ISO RGD:1351056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 3 PMID:15543491|PMID:16199547|PMID:16329096|PMID:17576681|PMID:18035376|PMID:18060436|PMID:18300272|PMID:23485406|PMID:23595507|PMID:23801932|PMID:24466005|PMID:24689081|PMID:25122144|PMID:25354366|PMID:25741868|PMID:26246098|PMID:26896283|PMID:28492532|PMID:30161288|PMID:9536098 11708405 PDCD10 programmed cell death 10 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1351056 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:16329096|PMID:17576681|PMID:24466005|PMID:25122144|PMID:25741868|PMID:28492532|PMID:9536098 11708405 PDCD10 programmed cell death 10 gene DOID:0080491 cerebral cavernous malformation 1 ISO RGD:1351056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 1 PMID:25741868 11708405 PDCD10 programmed cell death 10 gene DOID:630 genetic disease ISO RGD:1351056 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24689081|PMID:28492532 11708425 BCL9 BCL9 transcription coactivator gene DOID:0060041 autism spectrum disorder ISO RGD:1315830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 11708425 BCL9 BCL9 transcription coactivator gene DOID:0060411 chromosome 1q21.1 deletion syndrome ISO RGD:1315830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome 11708425 BCL9 BCL9 transcription coactivator gene DOID:0060435 chromosome 1q21.1 duplication syndrome ISO RGD:1315830 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome 11708425 BCL9 BCL9 transcription coactivator gene DOID:0110231 cataract 1 multiple types ISO RGD:1315830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 1 multiple types PMID:17601931|PMID:23720739|PMID:23772370|PMID:28492532 11708425 BCL9 BCL9 transcription coactivator gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1315830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 11708425 BCL9 BCL9 transcription coactivator gene DOID:1540 parathyroid carcinoma ISO RGD:1315830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11708425 BCL9 BCL9 transcription coactivator gene DOID:5419 schizophrenia ISO RGD:1315830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11708425 BCL9 BCL9 transcription coactivator gene DOID:630 genetic disease ISO RGD:1315830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11708425 BCL9 BCL9 transcription coactivator gene DOID:9002762 Ovarian Neoplasms ISO RGD:1315830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22024689 11708425 BCL9 BCL9 transcription coactivator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11708425 BCL9 BCL9 transcription coactivator gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11708449 ASIC4 acid sensing ion channel subunit family member 4 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1604616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11708449 ASIC4 acid sensing ion channel subunit family member 4 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1604616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11708449 ASIC4 acid sensing ion channel subunit family member 4 gene DOID:1148 polydactyly ISO RGD:1604616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 11708449 ASIC4 acid sensing ion channel subunit family member 4 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1604616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11708449 ASIC4 acid sensing ion channel subunit family member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11708463 LOC100973979 olfactory receptor 14C36 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1353060 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11708463 LOC100973979 olfactory receptor 14C36 gene DOID:1540 parathyroid carcinoma ISO RGD:1353060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11708463 LOC100973979 olfactory receptor 14C36 gene DOID:630 genetic disease ISO RGD:1353060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11708463 LOC100973979 olfactory receptor 14C36 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11708463 LOC100973979 olfactory receptor 14C36 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11708466 PLA2G2F phospholipase A2 group IIF gene DOID:0060369 Parkinson's disease 6 ISO RGD:1322150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11708466 PLA2G2F phospholipase A2 group IIF gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1322150 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11708466 PLA2G2F phospholipase A2 group IIF gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1322150 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11708466 PLA2G2F phospholipase A2 group IIF gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1322150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11708466 PLA2G2F phospholipase A2 group IIF gene DOID:630 genetic disease ISO RGD:1322150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11708466 PLA2G2F phospholipase A2 group IIF gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1322150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11708484 DUSP23 dual specificity phosphatase 23 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1319412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11708484 DUSP23 dual specificity phosphatase 23 gene DOID:1540 parathyroid carcinoma ISO RGD:1319412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11708484 DUSP23 dual specificity phosphatase 23 gene DOID:630 genetic disease ISO RGD:1319412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11708484 DUSP23 dual specificity phosphatase 23 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11708494 CD40LG CD40 ligand gene DOID:0050169 cutaneous lupus erythematosus ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:18050371|REF_RGD_ID:8547765 11708494 CD40LG CD40 ligand gene DOID:0050175 tick-borne encephalitis ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:16463218|REF_RGD_ID:11352252 11708494 CD40LG CD40 ligand gene DOID:0050185 erythema multiforme ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:18050371|REF_RGD_ID:8547765 11708494 CD40LG CD40 ligand gene DOID:0050589 inflammatory bowel disease ISO RGD:1615151 D RGD:9068941 20220825 MouseDO 11708494 CD40LG CD40 ligand gene DOID:0050731 vitamin B12 deficiency treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:16716410|REF_RGD_ID:2313422 11708494 CD40LG CD40 ligand gene DOID:0050873 follicular lymphoma ISO RGD:1352959 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:25582824|REF_RGD_ID:11344981 11708494 CD40LG CD40 ligand gene DOID:0060022 CD40 ligand deficiency ISO RGD:1352959 D RGD:7240710 20180130 OMIM 11708494 CD40LG CD40 ligand gene DOID:0060022 CD40 ligand deficiency ISO RGD:1352959 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hyper IgM immunodeficiency, X-linked | ClinVar Annotator: match by term: IMMUNODEFICIENCY 3 | ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:10366125|PMID:10484640|PMID:10559240|PMID:10651941|PMID:11038461|PMID:11158612|PMID:11850600|PMID:1385114|PMID:1427881|PMID:14514918|PMID:14641931|PMID:15319456|PMID:15358621|PMID:15623492|PMID:15924140|PMID:16019685|PMID:16169277|PMID:16199547|PMID:16509032|PMID:17146684|PMID:17351759|PMID:17553565|PMID:17576681|PMID:18342287|PMID:18805740|PMID:18955577|PMID:19575287|PMID:20301576|PMID:20591076|PMID:20625427|PMID:20652909|PMID:20981468|PMID:21465648|PMID:21543760|PMID:22009004|PMID:22193914|PMID:22750225|PMID:22928961|PMID:22963373|PMID:23622016|PMID:23653974|PMID:24123890|PMID:24402618|PMID:24768948|PMID:24929972|PMID:25215306|PMID:25541662|PMID:25741868|PMID:26545377|PMID:26997321|PMID:27189378|PMID:27324886|PMID:27484504|PMID:28492532|PMID:28916186|PMID:29077208|PMID:29525420|PMID:30053428|PMID:30405923|PMID:31117086|PMID:31179555|PMID:31331973|PMID:32888943|PMID:33060515|PMID:34335625|PMID:35572607|PMID:36478253|PMID:7586644|PMID:7678782|PMID:7679206|PMID:7679801|PMID:7717401|PMID:7906987|PMID:7907793|PMID:7916370|PMID:8094231|PMID:8550833|PMID:8889581|PMID:9150729|PMID:9536098|PMID:9605317|PMID:9746782 11708494 CD40LG CD40 ligand gene DOID:0060022 CD40 ligand deficiency disease_progression ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:21841160|REF_RGD_ID:5490298 11708494 CD40LG CD40 ligand gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11708494 CD40LG CD40 ligand gene DOID:0060825 Christianson syndrome ISO RGD:1352959 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11708494 CD40LG CD40 ligand gene DOID:0060903 thrombosis ISO RGD:1615151 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:21914625|REF_RGD_ID:5490522 11708494 CD40LG CD40 ligand gene DOID:0060903 thrombosis susceptibility ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:15306157|REF_RGD_ID:11352250 11708494 CD40LG CD40 ligand gene DOID:0060903 thrombosis treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:27085896|REF_RGD_ID:11344959 11708494 CD40LG CD40 ligand gene DOID:0070355 overactive bladder syndrome ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:19784793|REF_RGD_ID:7248423 11708494 CD40LG CD40 ligand gene DOID:0080162 lupus nephritis ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20726330|REF_RGD_ID:7248426 11708494 CD40LG CD40 ligand gene DOID:0080162 lupus nephritis ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:11751940|REF_RGD_ID:7248714 11708494 CD40LG CD40 ligand gene DOID:0080162 lupus nephritis treatment ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:12632425|PMID:15693003|REF_RGD_ID:7248439|REF_RGD_ID:7248710 11708494 CD40LG CD40 ligand gene DOID:0080162 lupus nephritis treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:13130474|REF_RGD_ID:7248600 11708494 CD40LG CD40 ligand gene DOID:0080544 hyper IgM syndrome ISO RGD:1352959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency with Hyper-IgM PMID:10484640|PMID:15358621|PMID:17351759|PMID:19575287|PMID:20301576|PMID:24402618|PMID:25541662|PMID:28492532|PMID:9746782 11708494 CD40LG CD40 ligand gene DOID:0080642 Middle East respiratory syndrome treatment ISO RGD:1615151 D RGD:9068941 20200626 RGD PMID:30911758|REF_RGD_ID:32716379 11708494 CD40LG CD40 ligand gene DOID:0081267 graft-versus-host disease ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:12970789|REF_RGD_ID:11352269 11708494 CD40LG CD40 ligand gene DOID:10223 dermatomyositis ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:18050371|REF_RGD_ID:8547765 11708494 CD40LG CD40 ligand gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9450802|REF_RGD_ID:11522717 11708494 CD40LG CD40 ligand gene DOID:10591 pre-eclampsia ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:blood platelet (human) PMID:23241952|REF_RGD_ID:11522719 11708494 CD40LG CD40 ligand gene DOID:10591 pre-eclampsia treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:26310940|REF_RGD_ID:11056772 11708494 CD40LG CD40 ligand gene DOID:10652 Alzheimer's disease ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:frontal cortex, astrocyte PMID:11755016|REF_RGD_ID:8547803 11708494 CD40LG CD40 ligand gene DOID:10652 Alzheimer's disease ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:11755016|REF_RGD_ID:8547803 11708494 CD40LG CD40 ligand gene DOID:10923 sickle cell anemia ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:24368019|REF_RGD_ID:11352270 11708494 CD40LG CD40 ligand gene DOID:10976 membranous glomerulonephritis treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:7564113|REF_RGD_ID:7248720 11708494 CD40LG CD40 ligand gene DOID:10976 membranous glomerulonephritis treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic PMID:17911451|REF_RGD_ID:7248430 11708494 CD40LG CD40 ligand gene DOID:1100 ovarian disease treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD associated with Autoimmune Diseases PMID:12574329|REF_RGD_ID:11531132 11708494 CD40LG CD40 ligand gene DOID:11054 urinary bladder cancer treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:16361570|REF_RGD_ID:7248437 11708494 CD40LG CD40 ligand gene DOID:1168 familial hyperlipidemia ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:21485068|REF_RGD_ID:5490594 11708494 CD40LG CD40 ligand gene DOID:11702 dysgammaglobulinemia ISO RGD:1352959 D RGD:9068941 20200609 RGD Hyper-IgM Immunodeficiency Syndrome HIGM1, OMIM:308230 PMID:7678782|REF_RGD_ID:1599480 11708494 CD40LG CD40 ligand gene DOID:11713 diabetic angiopathy ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14963650|REF_RGD_ID:2314223 11708494 CD40LG CD40 ligand gene DOID:1205 allergic disease ISO RGD:1352959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11708494 CD40LG CD40 ligand gene DOID:12132 granulomatosis with polyangiitis ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:21411717|REF_RGD_ID:5490596 11708494 CD40LG CD40 ligand gene DOID:12134 factor VIII deficiency treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:11776297|REF_RGD_ID:11352263 11708494 CD40LG CD40 ligand gene DOID:12177 common variable immunodeficiency ISO RGD:1352959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:25741868 11708494 CD40LG CD40 ligand gene DOID:12361 Graves' disease treatment ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:8875745|REF_RGD_ID:8547747 11708494 CD40LG CD40 ligand gene DOID:12365 malaria severity ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:11485931|REF_RGD_ID:11352239 11708494 CD40LG CD40 ligand gene DOID:12449 aplastic anemia ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:22537155|REF_RGD_ID:11352267 11708494 CD40LG CD40 ligand gene DOID:12849 autistic disorder ISO RGD:1352959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11708494 CD40LG CD40 ligand gene DOID:1287 cardiovascular system disease ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:17314326|REF_RGD_ID:7248433 11708494 CD40LG CD40 ligand gene DOID:1287 cardiovascular system disease severity ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic;protein:increased expression:plasma PMID:21303961|REF_RGD_ID:7248722 11708494 CD40LG CD40 ligand gene DOID:12894 Sjogren's syndrome ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:salivary ductal epithelium (human) PMID:12472667|REF_RGD_ID:11520791 11708494 CD40LG CD40 ligand gene DOID:13133 HELLP syndrome ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:blood platelet (human) PMID:23241952|REF_RGD_ID:11522719 11708494 CD40LG CD40 ligand gene DOID:13139 crescentic glomerulonephritis treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:14569091|REF_RGD_ID:7248599 11708494 CD40LG CD40 ligand gene DOID:13241 Behcet's disease ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22116092|REF_RGD_ID:8547820 11708494 CD40LG CD40 ligand gene DOID:13378 Kawasaki disease treatment ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:12563087|REF_RGD_ID:11352236 11708494 CD40LG CD40 ligand gene DOID:13922 eosinophilic esophagitis ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:21211656|REF_RGD_ID:5490306 11708494 CD40LG CD40 ligand gene DOID:1485 cystic fibrosis ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:15102009|REF_RGD_ID:7248443 11708494 CD40LG CD40 ligand gene DOID:1588 thrombocytopenia treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD associated with Malaria PMID:11865192|REF_RGD_ID:11352243 11708494 CD40LG CD40 ligand gene DOID:1936 atherosclerosis ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21817131|REF_RGD_ID:7248421 11708494 CD40LG CD40 ligand gene DOID:1936 atherosclerosis ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:20705757|REF_RGD_ID:5490529 11708494 CD40LG CD40 ligand gene DOID:1936 atherosclerosis ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:16317521|REF_RGD_ID:1582628 11708494 CD40LG CD40 ligand gene DOID:1936 atherosclerosis treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:26261622|REF_RGD_ID:11344965 11708494 CD40LG CD40 ligand gene DOID:1936 atherosclerosis treatment ISO RGD:708418 D RGD:9068941 20200609 RGD associated with Hypercholesterolemia PMID:23984971|REF_RGD_ID:8547801 11708494 CD40LG CD40 ligand gene DOID:2224 essential thrombocythemia ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:22196954|REF_RGD_ID:11344979 11708494 CD40LG CD40 ligand gene DOID:224 transient cerebral ischemia severity ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:15795333|REF_RGD_ID:11352234 11708494 CD40LG CD40 ligand gene DOID:2527 nephrosis ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:19889873|REF_RGD_ID:7248422 11708494 CD40LG CD40 ligand gene DOID:2841 asthma severity ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:9502776|REF_RGD_ID:11352238 11708494 CD40LG CD40 ligand gene DOID:2988 antiphospholipid syndrome ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:16188945|REF_RGD_ID:11344980 11708494 CD40LG CD40 ligand gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1352959 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20348957 11708494 CD40LG CD40 ligand gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:20348957|REF_RGD_ID:5490547 11708494 CD40LG CD40 ligand gene DOID:3388 periodontal disease ISO RGD:708418 D RGD:9068941 20200609 RGD mRNA:increased expression:lymph node, B cell, T cell PMID:20618701|REF_RGD_ID:5024938 11708494 CD40LG CD40 ligand gene DOID:3393 coronary artery disease ISO RGD:1352959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16368305 11708494 CD40LG CD40 ligand gene DOID:3393 coronary artery disease ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:16494885|REF_RGD_ID:7248436 11708494 CD40LG CD40 ligand gene DOID:3393 coronary artery disease ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with Mucocutaneous Lymph Node Syndrome;DNA:SNP: :rs4810485 (human) PMID:22645426|REF_RGD_ID:8547776 11708494 CD40LG CD40 ligand gene DOID:3393 coronary artery disease ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17635572|REF_RGD_ID:2314209 11708494 CD40LG CD40 ligand gene DOID:3393 coronary artery disease ISO RGD:708418 D RGD:9068941 20200609 RGD protein:increased expression:coronary artery, serum PMID:23819214|REF_RGD_ID:7248750 11708494 CD40LG CD40 ligand gene DOID:3407 carotid artery disease ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum PMID:16752185|REF_RGD_ID:2314211 11708494 CD40LG CD40 ligand gene DOID:3407 carotid artery disease disease_progression ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:platelet PMID:15817881|REF_RGD_ID:2314188 11708494 CD40LG CD40 ligand gene DOID:417 autoimmune disease ISO RGD:1352959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15494542 11708494 CD40LG CD40 ligand gene DOID:417 autoimmune disease ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:11535630|PMID:21414847|REF_RGD_ID:5490595|REF_RGD_ID:8547751 11708494 CD40LG CD40 ligand gene DOID:4481 allergic rhinitis ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:lymphocyte PMID:19086656|REF_RGD_ID:8547782 11708494 CD40LG CD40 ligand gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:15458437|REF_RGD_ID:5508170 11708494 CD40LG CD40 ligand gene DOID:5050 Ehrlich tumor carcinoma treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:19269163|REF_RGD_ID:11352683 11708494 CD40LG CD40 ligand gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:21177803|REF_RGD_ID:5490598 11708494 CD40LG CD40 ligand gene DOID:552 pneumonia ISO RGD:1352959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11708494 CD40LG CD40 ligand gene DOID:557 kidney disease treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:12969144|REF_RGD_ID:7248601 11708494 CD40LG CD40 ligand gene DOID:5844 myocardial infarction ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17635572|REF_RGD_ID:2314209 11708494 CD40LG CD40 ligand gene DOID:6000 congestive heart failure ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15716285|REF_RGD_ID:2314219 11708494 CD40LG CD40 ligand gene DOID:628 combined T cell and B cell immunodeficiency ISO RGD:1352959 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.G219R (human) PMID:21543760|REF_RGD_ID:5490593 11708494 CD40LG CD40 ligand gene DOID:630 genetic disease ISO RGD:1352959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15358621|PMID:28492532|PMID:8094231 11708494 CD40LG CD40 ligand gene DOID:635 acquired immunodeficiency syndrome treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:9499800|REF_RGD_ID:11344976 11708494 CD40LG CD40 ligand gene DOID:6364 migraine ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21331754|REF_RGD_ID:5490597 11708494 CD40LG CD40 ligand gene DOID:6432 pulmonary hypertension ISO RGD:1352959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15302794 11708494 CD40LG CD40 ligand gene DOID:6432 pulmonary hypertension ISO RGD:708418 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:25998782|REF_RGD_ID:11344970 11708494 CD40LG CD40 ligand gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1352959 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 1 | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:10366125|PMID:10484640|PMID:10559240|PMID:10651941|PMID:11038461|PMID:11158612|PMID:11850600|PMID:1385114|PMID:1427881|PMID:14514918|PMID:14641931|PMID:15319456|PMID:15358621|PMID:15623492|PMID:15924140|PMID:16019685|PMID:16169277|PMID:16199547|PMID:16509032|PMID:17146684|PMID:17351759|PMID:17553565|PMID:17576681|PMID:18342287|PMID:18805740|PMID:18955577|PMID:19575287|PMID:20301576|PMID:20591076|PMID:20625427|PMID:20652909|PMID:20981468|PMID:21465648|PMID:21543760|PMID:22009004|PMID:22193914|PMID:22750225|PMID:22928961|PMID:22963373|PMID:23622016|PMID:23653974|PMID:24123890|PMID:24402618|PMID:24768948|PMID:24929972|PMID:25215306|PMID:25541662|PMID:25741868|PMID:26545377|PMID:26997321|PMID:27189378|PMID:27324886|PMID:27484504|PMID:28492532|PMID:28916186|PMID:29077208|PMID:29525420|PMID:30053428|PMID:30405923|PMID:31117086|PMID:31179555|PMID:31331973|PMID:32888943|PMID:33060515|PMID:34335625|PMID:35572607|PMID:36478253|PMID:7586644|PMID:7678782|PMID:7679206|PMID:7679801|PMID:7717401|PMID:7906987|PMID:7907793|PMID:7916370|PMID:8094231|PMID:8550833|PMID:8889581|PMID:9150729|PMID:9536098|PMID:9605317|PMID:9746782 11708494 CD40LG CD40 ligand gene DOID:684 hepatocellular carcinoma ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:19016771|REF_RGD_ID:2313413 11708494 CD40LG CD40 ligand gene DOID:783 end stage renal disease ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19019166|REF_RGD_ID:7248427 11708494 CD40LG CD40 ligand gene DOID:824 periodontitis ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:22523383|REF_RGD_ID:11352302 11708494 CD40LG CD40 ligand gene DOID:8283 peritonitis ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:15780086|REF_RGD_ID:7248438 11708494 CD40LG CD40 ligand gene DOID:8566 herpes simplex ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:11134274|REF_RGD_ID:8547770 11708494 CD40LG CD40 ligand gene DOID:8567 Hodgkin's lymphoma ISO RGD:1352959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7621881|PMID:8656679 11708494 CD40LG CD40 ligand gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:708418 D RGD:9068941 20200609 RGD protein:decreased expression:ileum PMID:21240009|REF_RGD_ID:5490305 11708494 CD40LG CD40 ligand gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:16188945|REF_RGD_ID:11344980 11708494 CD40LG CD40 ligand gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood, T lymphocyte (human) PMID:17654056|REF_RGD_ID:11344977 11708494 CD40LG CD40 ligand gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1615151 D RGD:9068941 20200609 RGD protein:decreased expression:serum (mouse) PMID:22537155|REF_RGD_ID:11352267 11708494 CD40LG CD40 ligand gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:18341638|REF_RGD_ID:11352237 11708494 CD40LG CD40 ligand gene DOID:8986 narcolepsy ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:21669245|REF_RGD_ID:11352261 11708494 CD40LG CD40 ligand gene DOID:9000469 Viral Myocarditis treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:19914091|PMID:9721703|REF_RGD_ID:13702885|REF_RGD_ID:13702888 11708494 CD40LG CD40 ligand gene DOID:9000469 Viral Myocarditis treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:11945021|REF_RGD_ID:13702886 11708494 CD40LG CD40 ligand gene DOID:9000528 Coronary Disease treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:23819214|REF_RGD_ID:7248750 11708494 CD40LG CD40 ligand gene DOID:9000656 Penetrating Wounds treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:25153915|REF_RGD_ID:11352274 11708494 CD40LG CD40 ligand gene DOID:9000784 Fibrosis treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:17823201|REF_RGD_ID:8547759 11708494 CD40LG CD40 ligand gene DOID:9000808 Hypercholesterolemia ISO RGD:708418 D RGD:9068941 20200609 RGD protein:increased expression:platelet (rat) PMID:21574786|REF_RGD_ID:7248754 11708494 CD40LG CD40 ligand gene DOID:9000808 Hypercholesterolemia treatment ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:18787388|REF_RGD_ID:7248428 11708494 CD40LG CD40 ligand gene DOID:9000808 Hypercholesterolemia treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:26950185|REF_RGD_ID:11344960 11708494 CD40LG CD40 ligand gene DOID:9000998 Brain Injuries ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:11755016|REF_RGD_ID:8547803 11708494 CD40LG CD40 ligand gene DOID:9000998 Brain Injuries treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:25972624|REF_RGD_ID:11344972 11708494 CD40LG CD40 ligand gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:19035311|REF_RGD_ID:5491179 11708494 CD40LG CD40 ligand gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with Anxiety Disorders;protein:increased expression:serum PMID:20170788|REF_RGD_ID:5490548 11708494 CD40LG CD40 ligand gene DOID:9001686 Acute Coronary Syndrome treatment ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:31624788|REF_RGD_ID:21081509 11708494 CD40LG CD40 ligand gene DOID:9002153 Chronic Allograft Dysfunction treatment ISO RGD:708418 D RGD:9068941 20200609 RGD liver PMID:22826618|REF_RGD_ID:11352297 11708494 CD40LG CD40 ligand gene DOID:9002165 Diabetic Nephropathies ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:serum PMID:18756582|REF_RGD_ID:2314208 11708494 CD40LG CD40 ligand gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1352959 D RGD:9068941 20200609 RGD mouse-human chimeric gene in human PMID:20882050|REF_RGD_ID:11352235 11708494 CD40LG CD40 ligand gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1615151 D RGD:9068941 20200609 RGD mouse-human chimeric gene in human PMID:20882050|REF_RGD_ID:11352235 11708494 CD40LG CD40 ligand gene DOID:9002457 Experimental Arthritis ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:7689748|REF_RGD_ID:11352696 11708494 CD40LG CD40 ligand gene DOID:9002457 Experimental Arthritis ISO RGD:708418 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:22611405|REF_RGD_ID:11352298 11708494 CD40LG CD40 ligand gene DOID:9002457 Experimental Arthritis treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:27218142|REF_RGD_ID:11344958 11708494 CD40LG CD40 ligand gene DOID:9002549 Shock ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20490890|REF_RGD_ID:5490973 11708494 CD40LG CD40 ligand gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:20400704|REF_RGD_ID:4891397 11708494 CD40LG CD40 ligand gene DOID:9002928 Colonic Neoplasms ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:20378141|REF_RGD_ID:5490978 11708494 CD40LG CD40 ligand gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1352959 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Visceral heterotaxia PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11708494 CD40LG CD40 ligand gene DOID:9004009 Reperfusion Injury ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:20659085|REF_RGD_ID:5490531 11708494 CD40LG CD40 ligand gene DOID:9004009 Reperfusion Injury ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:12388354|REF_RGD_ID:5508171 11708494 CD40LG CD40 ligand gene DOID:9004203 Chromosome Breakage ISO RGD:1352959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27634759 11708494 CD40LG CD40 ligand gene DOID:9004283 Transplant Rejection ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:22948742|REF_RGD_ID:7248420 11708494 CD40LG CD40 ligand gene DOID:9004283 Transplant Rejection ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:blood, T cell PMID:10949194|REF_RGD_ID:7248719 11708494 CD40LG CD40 ligand gene DOID:9004283 Transplant Rejection treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:15808676|REF_RGD_ID:8547783 11708494 CD40LG CD40 ligand gene DOID:9004283 Transplant Rejection treatment ISO RGD:708418 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:15016184|REF_RGD_ID:7248598 11708494 CD40LG CD40 ligand gene DOID:9004397 calcification of aortic valve treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:24374105|REF_RGD_ID:11352276 11708494 CD40LG CD40 ligand gene DOID:9004484 Sepsis ISO RGD:708418 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (rat) PMID:20933523|REF_RGD_ID:11352671 11708494 CD40LG CD40 ligand gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:708418 D RGD:9068941 20200609 RGD protein:increased expression:platelet (rat) PMID:19237211|REF_RGD_ID:2312338 11708494 CD40LG CD40 ligand gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:21831422|REF_RGD_ID:11352661 11708494 CD40LG CD40 ligand gene DOID:9005749 Necrosis ISO RGD:1352959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22295117 11708494 CD40LG CD40 ligand gene DOID:9005837 Cholangiofibrosis treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:23820408|REF_RGD_ID:11352285 11708494 CD40LG CD40 ligand gene DOID:9006332 Vascular Calcification ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with Coronary Artery Disease PMID:16494885|REF_RGD_ID:7248436 11708494 CD40LG CD40 ligand gene DOID:9006623 Murine Acquired Immunodeficiency Syndrome treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:8642687|REF_RGD_ID:11520796 11708494 CD40LG CD40 ligand gene DOID:9006642 Experimental Autoimmune Uveoretinitis treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:15972638|REF_RGD_ID:8547777 11708494 CD40LG CD40 ligand gene DOID:9006646 Metabolic Syndrome ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:20006362|REF_RGD_ID:5490591 11708494 CD40LG CD40 ligand gene DOID:9006646 Metabolic Syndrome ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16423632|REF_RGD_ID:2314214 11708494 CD40LG CD40 ligand gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:17188497|REF_RGD_ID:5491181 11708494 CD40LG CD40 ligand gene DOID:9006709 Primary Graft Dysfunction treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:12244161|REF_RGD_ID:7248713 11708494 CD40LG CD40 ligand gene DOID:9006779 Discoid Lupus Erythematosus ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:18050371|REF_RGD_ID:8547765 11708494 CD40LG CD40 ligand gene DOID:9006939 Lyme Neuroborreliosis ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:16463218|REF_RGD_ID:11352252 11708494 CD40LG CD40 ligand gene DOID:9007102 Myocardial Ischemia ISO RGD:708418 D RGD:9068941 20200609 RGD protein:increased expression:myocardium (rat) PMID:19204010|REF_RGD_ID:11352684 11708494 CD40LG CD40 ligand gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:19565716|REF_RGD_ID:11352677 11708494 CD40LG CD40 ligand gene DOID:9007110 Subacute Combined Degeneration ISO RGD:708418 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:16716410|REF_RGD_ID:2313422 11708494 CD40LG CD40 ligand gene DOID:9007110 Subacute Combined Degeneration treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:16716410|REF_RGD_ID:2313422 11708494 CD40LG CD40 ligand gene DOID:9007355 Hashimoto Disease ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17558708|REF_RGD_ID:8547767 11708494 CD40LG CD40 ligand gene DOID:9007823 Chromosome Xq26.3 Duplication Syndrome ISO RGD:1352959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome PMID:25712922|PMID:26935837 11708494 CD40LG CD40 ligand gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:11359850|REF_RGD_ID:8547800 11708494 CD40LG CD40 ligand gene DOID:9074 systemic lupus erythematosus ISO RGD:1352959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28793932 11708494 CD40LG CD40 ligand gene DOID:9074 systemic lupus erythematosus ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20726330|REF_RGD_ID:7248426 11708494 CD40LG CD40 ligand gene DOID:9074 systemic lupus erythematosus ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:9036998|REF_RGD_ID:11352248 11708494 CD40LG CD40 ligand gene DOID:9074 systemic lupus erythematosus ISO RGD:1615151 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 11708494 CD40LG CD40 ligand gene DOID:9146 visceral leishmaniasis ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:14573667|REF_RGD_ID:8547750 11708494 CD40LG CD40 ligand gene DOID:9182 pemphigus ISO RGD:1352959 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:skin, serum PMID:17531537|REF_RGD_ID:8547773 11708494 CD40LG CD40 ligand gene DOID:9201 lichen planus ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:18050371|REF_RGD_ID:8547765 11708494 CD40LG CD40 ligand gene DOID:9351 diabetes mellitus ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with Coronary Arteriosclerosis, Myocardial Infarction; protein:increased expression:serum PMID:17635572|REF_RGD_ID:2314209 11708494 CD40LG CD40 ligand gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with non-alcoholic steatohepatitis;mRNA:increased expression:visceral abdominal adipose tissue PMID:19280268|REF_RGD_ID:5688143 11708494 CD40LG CD40 ligand gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16423632|REF_RGD_ID:2314214 11708494 CD40LG CD40 ligand gene DOID:9538 multiple myeloma disease_progression ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:27243341|REF_RGD_ID:11352268 11708494 CD40LG CD40 ligand gene DOID:9538 multiple myeloma treatment ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:22403003|REF_RGD_ID:11352251 11708494 CD40LG CD40 ligand gene DOID:9538 multiple myeloma treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:15565183|REF_RGD_ID:11352240 11708494 CD40LG CD40 ligand gene DOID:9744 type 1 diabetes mellitus ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16505242|REF_RGD_ID:2314212 11708494 CD40LG CD40 ligand gene DOID:9744 type 1 diabetes mellitus ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:15448088|REF_RGD_ID:2314220 11708494 CD40LG CD40 ligand gene DOID:9744 type 1 diabetes mellitus ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:16611325|REF_RGD_ID:5491182 11708494 CD40LG CD40 ligand gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:26716812|REF_RGD_ID:11344963 11708494 CD40LG CD40 ligand gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:12419284|REF_RGD_ID:8547798 11708494 CD40LG CD40 ligand gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:9292526|REF_RGD_ID:11352271 11708494 CD40LG CD40 ligand gene DOID:9970 obesity ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20660932|REF_RGD_ID:5490970 11708494 CD40LG CD40 ligand gene DOID:9970 obesity ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:21817098|REF_RGD_ID:5490592 11708510 PDILT protein disulfide isomerase like, testis expressed gene DOID:630 genetic disease ISO RGD:1602970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11708525 GALT galactose-1-phosphate uridylyltransferase gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1315126 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11708525 GALT galactose-1-phosphate uridylyltransferase gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1315126 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11708525 GALT galactose-1-phosphate uridylyltransferase gene DOID:0080942 anauxetic dysplasia ISO RGD:1315126 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11708525 GALT galactose-1-phosphate uridylyltransferase gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1315126 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11708525 GALT galactose-1-phosphate uridylyltransferase gene DOID:0111459 classic galactosemia ISO RGD:1315126 D RGD:7240710 20230420 OMIM 11708525 GALT galactose-1-phosphate uridylyltransferase gene DOID:0111459 classic galactosemia ISO RGD:1315126 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GALACTOSEMIA I PMID:10424825|PMID:11152465|PMID:11261429|PMID:11286503|PMID:11479743|PMID:19224951|PMID:19581158|PMID:2011574|PMID:20301691|PMID:21228398|PMID:22963887|PMID:24718839|PMID:25087612|PMID:25592817|PMID:25614870|PMID:25741868|PMID:28492532|PMID:4759900|PMID:7550229|PMID:8198125|PMID:8892021|PMID:9012409|PMID:9222760|PMID:9450900 11708525 GALT galactose-1-phosphate uridylyltransferase gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1315126 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11708525 GALT galactose-1-phosphate uridylyltransferase gene DOID:5426 primary ovarian insufficiency ISO RGD:1315126 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:17876724|PMID:22461411|PMID:25741868|PMID:28492532 11708525 GALT galactose-1-phosphate uridylyltransferase gene DOID:630 genetic disease ISO RGD:1315126 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10070616|PMID:10408771|PMID:10884393|PMID:11152465|PMID:11511927|PMID:11754113|PMID:12208137|PMID:12350230|PMID:15841485|PMID:1610789|PMID:19418241|PMID:20301691|PMID:20547145|PMID:22461411|PMID:22944367|PMID:25124065|PMID:25614870|PMID:25741868|PMID:27176039|PMID:28065439|PMID:28492532|PMID:30718057|PMID:31954591|PMID:7887417|PMID:8198125|PMID:8551426|PMID:9202622|PMID:9323558|PMID:9635294 11708525 GALT galactose-1-phosphate uridylyltransferase gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1315126 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11708525 GALT galactose-1-phosphate uridylyltransferase gene DOID:9562 primary ciliary dyskinesia ISO RGD:1315126 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11708525 GALT galactose-1-phosphate uridylyltransferase gene DOID:9870 galactosemia ISO RGD:1315126 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | ClinVar Annotator: match by term: Galactosemia PMID:10037750|PMID:10070616|PMID:10220154|PMID:10384398|PMID:10399107|PMID:10408771|PMID:10424825|PMID:10439960|PMID:10529216|PMID:10535394|PMID:10573007|PMID:10649501|PMID:10811638|PMID:10884393|PMID:10952646|PMID:10960497|PMID:11113841|PMID:11152465|PMID:11216901|PMID:11261429|PMID:11286503|PMID:11286505|PMID:11397328|PMID:11479743|PMID:11511927|PMID:11596650|PMID:11678552|PMID:11754113|PMID:11919338|PMID:12208137|PMID:12350230|PMID:12491926|PMID:12552079|PMID:12595586|PMID:12872845|PMID:1301925|PMID:1373122|PMID:1427861|PMID:14518827|PMID:14728988|PMID:15172000|PMID:15633893|PMID:15749517|PMID:15775761|PMID:15841485|PMID:15986423|PMID:1610789|PMID:16167124|PMID:16199547|PMID:16540753|PMID:16765930|PMID:16838075|PMID:17041746|PMID:17079880|PMID:17143577|PMID:17221873|PMID:17486650|PMID:17576681|PMID:1766867|PMID:17876724|PMID:17884932|PMID:17957157|PMID:18207281|PMID:18210213|PMID:18813948|PMID:18956253|PMID:1897530|PMID:19181333|PMID:19224951|PMID:19375122|PMID:19418241|PMID:19581158|PMID:19904210|PMID:20008339|PMID:20100763|PMID:2011574|PMID:20151200|PMID:20213376|PMID:20301691|PMID:20348403|PMID:20351709|PMID:20547145|PMID:20663501|PMID:20863731|PMID:21150919|PMID:21188552|PMID:21228398|PMID:21501963|PMID:21779791|PMID:2233247|PMID:22461411|PMID:22693313|PMID:22729817|PMID:22743281|PMID:22870861|PMID:22944367|PMID:22963887|PMID:23022339|PMID:23151865|PMID:23319291|PMID:23418865|PMID:23430559|PMID:23583749|PMID:23690308|PMID:23749220|PMID:23924834|PMID:24033266|PMID:24045215|PMID:24718839|PMID:24973740|PMID:25052314|PMID:25087612|PMID:25124065|PMID:25268296|PMID:25525159|PMID:25592817|PMID:25614870|PMID:25622686|PMID:25681079|PMID:25741868|PMID:25814382|PMID:25936995|PMID:26565537|PMID:27005423|PMID:27176039|PMID:27308838|PMID:27363831|PMID:27415407|PMID:27603904|PMID:27629047|PMID:27878435|PMID:28065439|PMID:28173647|PMID:28391442|PMID:28492532|PMID:28644047|PMID:28649529|PMID:29252199|PMID:29261178|PMID:29653003|PMID:29892033|PMID:30172461|PMID:30231941|PMID:30275481|PMID:30718057|PMID:30808388|PMID:30987402|PMID:30994193|PMID:31029175|PMID:31042289|PMID:31194682|PMID:31194895|PMID:31267113|PMID:31358168|PMID:31395954|PMID:31450232|PMID:31804959|PMID:31954591|PMID:32903656|PMID:33101984|PMID:33335841|PMID:33636947|PMID:34030713|PMID:4759900|PMID:7550229|PMID:7573066|PMID:7671959|PMID:7887416|PMID:7887417|PMID:8040766|PMID:8051928|PMID:8198125|PMID:8499924|PMID:8522334|PMID:8551426|PMID:8598637|PMID:8692963|PMID:8741038|PMID:8869397|PMID:8892021|PMID:8943248|PMID:8956044|PMID:9012409|PMID:9202622|PMID:9222760|PMID:9323558|PMID:9396569|PMID:9450900|PMID:9536098|PMID:9635294|PMID:9686364|PMID:9766850|PMID:9772178 11708543 RNF186 ring finger protein 186 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1601756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11708543 RNF186 ring finger protein 186 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1601756 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11708543 RNF186 ring finger protein 186 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1601756 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11708543 RNF186 ring finger protein 186 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1601756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11708543 RNF186 ring finger protein 186 gene DOID:630 genetic disease ISO RGD:1601756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11708543 RNF186 ring finger protein 186 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1601756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11708548 SLU7 SLU7 homolog, splicing factor gene DOID:630 genetic disease ISO RGD:1606825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11708548 SLU7 SLU7 homolog, splicing factor gene DOID:9004657 Weight Gain ISO RGD:1606825 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11708572 DEFB126 defensin beta 126 gene DOID:630 genetic disease ISO RGD:1352735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11708578 UBR1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:10907 microcephaly ISO RGD:1347280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11708578 UBR1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:1287 cardiovascular system disease ISO RGD:1347280 D RGD:9068941 20230128 RGD DNA:splice-site mutation:cds:IVS26+5G>A (human) PMID:19006206|REF_RGD_ID:155882462 11708578 UBR1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:14694 Johanson-Blizzard syndrome ISO RGD:1347280 D RGD:7240710 20180130 OMIM 11708578 UBR1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:14694 Johanson-Blizzard syndrome ISO RGD:1347280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Johanson-Blizzard syndrome PMID:16311597|PMID:18553553|PMID:19006206|PMID:23778732|PMID:24033266|PMID:24599544|PMID:25741868|PMID:28492532 11708578 UBR1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:1936 atherosclerosis ISO RGD:1347280 D RGD:9068941 20230128 RGD associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) PMID:33381146|REF_RGD_ID:155882464 11708578 UBR1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:2717 Bloom syndrome ISO RGD:1347280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11708578 UBR1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:630 genetic disease ISO RGD:1347280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24599544|PMID:26989884|PMID:28492532 11708578 UBR1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:9256 colorectal cancer ISO RGD:1347280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11708631 SIAH1 siah E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1351073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11708631 SIAH1 siah E3 ubiquitin protein ligase 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:620449 D RGD:9068941 20200609 RGD PMID:27256506|REF_RGD_ID:13792677 11708631 SIAH1 siah E3 ubiquitin protein ligase 1 gene DOID:9002138 Spinal Cord Reperfusion Injury treatment ISO RGD:620449 D RGD:9068941 20200609 RGD PMID:30195603|REF_RGD_ID:13792615 11708631 SIAH1 siah E3 ubiquitin protein ligase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32430360 11708631 SIAH1 siah E3 ubiquitin protein ligase 1 gene DOID:9006459 BURATTI-HAREL SYNDROME ISO RGD:1351073 D RGD:7240710 20210811 OMIM 11708631 SIAH1 siah E3 ubiquitin protein ligase 1 gene DOID:9006459 BURATTI-HAREL SYNDROME ISO RGD:1351073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Buratti-Harel syndrome PMID:25741868|PMID:32430360 11708631 SIAH1 siah E3 ubiquitin protein ligase 1 gene DOID:9008342 Johnson Munson Syndrome ISO RGD:1351073 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aphalangy of the hands and feet, hemivertebrae, and visceral malformations PMID:25741868 11708640 LOC100979161 histone H2B type 3-B gene DOID:1540 parathyroid carcinoma ISO RGD:1606704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11708640 LOC100979161 histone H2B type 3-B gene DOID:630 genetic disease ISO RGD:1606704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11708640 LOC100979161 histone H2B type 3-B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11708647 SYT16 synaptotagmin 16 gene DOID:630 genetic disease ISO RGD:1346455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11708658 LOC100980715 olfactory receptor 4K2 gene DOID:630 genetic disease ISO RGD:1351442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11708663 DMTN dematin actin binding protein gene DOID:630 genetic disease ISO RGD:1322873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11708663 DMTN dematin actin binding protein gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1322873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 11708730 ACBD4 acyl-CoA binding domain containing 4 gene DOID:630 genetic disease ISO RGD:1318153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11708730 ACBD4 acyl-CoA binding domain containing 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318153 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11708774 RPS9 ribosomal protein S9 gene DOID:630 genetic disease ISO RGD:734165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11708774 RPS9 ribosomal protein S9 gene DOID:9007874 Liver Failure ISO RGD:619889 D RGD:9068941 20200609 RGD PMID:501300|REF_RGD_ID:11040911 11708786 FAM50A family with sequence similarity 50 member A gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1344714 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11708786 FAM50A family with sequence similarity 50 member A gene DOID:0050476 Barth syndrome ISO RGD:1344714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11708786 FAM50A family with sequence similarity 50 member A gene DOID:0050764 Armfield syndrome ISO RGD:1344714 D RGD:7240710 20200902 OMIM 11708786 FAM50A family with sequence similarity 50 member A gene DOID:0050764 Armfield syndrome ISO RGD:1344714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Armfield syndrome PMID:10398235|PMID:25741868|PMID:32703943 11708786 FAM50A family with sequence similarity 50 member A gene DOID:0050800 creatine transporter deficiency ISO RGD:1344714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11708786 FAM50A family with sequence similarity 50 member A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11708786 FAM50A family with sequence similarity 50 member A gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1344714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 11708786 FAM50A family with sequence similarity 50 member A gene DOID:0112003 immunodeficiency 33 ISO RGD:1344714 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11708786 FAM50A family with sequence similarity 50 member A gene DOID:10588 adrenoleukodystrophy ISO RGD:1344714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11708786 FAM50A family with sequence similarity 50 member A gene DOID:1059 intellectual disability ISO RGD:1344714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10398235|PMID:25741868|PMID:32703943 11708786 FAM50A family with sequence similarity 50 member A gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1344714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11708786 FAM50A family with sequence similarity 50 member A gene DOID:12849 autistic disorder ISO RGD:1344714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11708786 FAM50A family with sequence similarity 50 member A gene DOID:13628 favism ISO RGD:1344714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11708786 FAM50A family with sequence similarity 50 member A gene DOID:2729 dyskeratosis congenita ISO RGD:1344714 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11708786 FAM50A family with sequence similarity 50 member A gene DOID:607 paraplegia ISO RGD:1344714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11708786 FAM50A family with sequence similarity 50 member A gene DOID:630 genetic disease ISO RGD:1344714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11708786 FAM50A family with sequence similarity 50 member A gene DOID:9002720 Splenomegaly ISO RGD:1344714 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11708804 RERGL RERG like gene DOID:10283 prostate cancer ISO RGD:1602860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11708804 RERGL RERG like gene DOID:630 genetic disease ISO RGD:1602860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11708816 MBD1 methyl-CpG binding domain protein 1 gene DOID:1059 intellectual disability ISO RGD:1314332 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11708816 MBD1 methyl-CpG binding domain protein 1 gene DOID:11832 visual epilepsy ISO RGD:1305980 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus PMID:12123686|REF_RGD_ID:9587847 11708816 MBD1 methyl-CpG binding domain protein 1 gene DOID:12849 autistic disorder ISO RGD:1314333 D RGD:9068941 20200609 RGD PMID:18385101|REF_RGD_ID:9588655 11708816 MBD1 methyl-CpG binding domain protein 1 gene DOID:1324 lung cancer susceptibility ISO RGD:1314332 D RGD:9068941 20200609 RGD DNA:snp::c.1221+135T>A (rs140689) (human) PMID:18668384|REF_RGD_ID:9588657 11708816 MBD1 methyl-CpG binding domain protein 1 gene DOID:1324 lung cancer susceptibility ISO RGD:1314332 D RGD:9068941 20200609 RGD DNA:snps, deletion:promoter, cds:g.-634G>A, g.-501delT, p.P401A (human) PMID:16284366|REF_RGD_ID:9588651 11708816 MBD1 methyl-CpG binding domain protein 1 gene DOID:224 transient cerebral ischemia ISO RGD:1305980 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:12421618|REF_RGD_ID:9587846 11708816 MBD1 methyl-CpG binding domain protein 1 gene DOID:630 genetic disease ISO RGD:1314332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11708816 MBD1 methyl-CpG binding domain protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11708891 XIRP1 xin actin binding repeat containing 1 gene DOID:10907 microcephaly ISO RGD:1312413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Classical primary microcephaly PMID:25558065|PMID:25741868 11708891 XIRP1 xin actin binding repeat containing 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1312414 D RGD:9068941 20220825 MouseDO 11708891 XIRP1 xin actin binding repeat containing 1 gene DOID:630 genetic disease ISO RGD:1312413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11708891 XIRP1 xin actin binding repeat containing 1 gene DOID:9000046 Poisoning ISO RGD:1312413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21964422 11708909 MS4A18 membrane spanning 4-domains A18 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:3457221 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11708909 MS4A18 membrane spanning 4-domains A18 gene DOID:1059 intellectual disability ISO RGD:3457221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11708919 LOC100990509 olfactory receptor 52B2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1347309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11708919 LOC100990509 olfactory receptor 52B2 gene DOID:630 genetic disease ISO RGD:1347309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11708922 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:732196 D RGD:9068941 20220825 RGD protein:decreased expression:tongue (human) PMID:26581505|REF_RGD_ID:11535375 11708922 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:0060074 ductal carcinoma in situ ISO RGD:732196 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:breast PMID:17254320|REF_RGD_ID:2293756 11708922 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:732196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 11708922 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:10534 stomach cancer ISO RGD:732196 D RGD:9068941 20220826 RGD DNA:SNP:5' utr (human) PMID:28169308|REF_RGD_ID:153344570 11708922 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:1059 intellectual disability ISO RGD:732196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11708922 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:11832 visual epilepsy ISO RGD:2627 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:11488404|REF_RGD_ID:2293787 11708922 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:13533 osteopetrosis ISO RGD:10597 D RGD:9068941 20200609 RGD PMID:10655067|REF_RGD_ID:737712 11708922 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11708922 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:234 colon adenocarcinoma ISO RGD:732196 D RGD:9068941 20220826 RGD protein:increased expression:colon (human) PMID:22419013|REF_RGD_ID:153344572 11708922 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:2746 glycogen storage disease V ISO RGD:732196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11708922 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:3744 cervical squamous cell carcinoma ISO RGD:732196 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix PMID:15514944|REF_RGD_ID:2293757 11708922 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:4451 renal carcinoma ISO RGD:2627 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:9405228|REF_RGD_ID:2293758 11708922 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:6000 congestive heart failure ISO RGD:2627 D RGD:9068941 20200609 RGD PMID:15623567|REF_RGD_ID:2293777 11708922 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:630 genetic disease ISO RGD:732196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11708922 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:732196 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11708922 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:9004009 Reperfusion Injury ISO RGD:2627 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:15306117|REF_RGD_ID:1642465 11708922 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:9006947 Fibroadenoma ISO RGD:732196 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:breast PMID:17254320|REF_RGD_ID:2293756 11708922 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:732196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11708922 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:9008939 Breast Neoplasms ISO RGD:732196 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:breast PMID:17254320|REF_RGD_ID:2293756 11708930 CHP2 calcineurin like EF-hand protein 2 gene DOID:630 genetic disease ISO RGD:1606515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11708942 NUDT13 nudix hydrolase 13 gene DOID:630 genetic disease ISO RGD:1349007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11708971 PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:0080422 Dravet syndrome ISO RGD:1314561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 11708971 PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:0111940 immunodeficiency 42 ISO RGD:1314561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11708971 PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11708971 PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314561 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11708971 PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:11054 urinary bladder cancer ISO RGD:1314561 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34755307 11708971 PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:1540 parathyroid carcinoma ISO RGD:1314561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11708971 PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:5812 MHC class II deficiency ISO RGD:1314561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11708971 PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:630 genetic disease ISO RGD:1314561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11708971 PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:9000081 Lymphatic Metastasis ISO RGD:1314561 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34755307 11708971 PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:9002170 Experimental Neoplasms ISO RGD:1314561 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34755307 11708971 PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1314561 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34755307 11708971 PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11708993 HIC1 HIC ZBTB transcriptional repressor 1 gene DOID:0050902 medulloblastoma ISO RGD:1316774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18347096 11708993 HIC1 HIC ZBTB transcriptional repressor 1 gene DOID:0060469 Miller-Dieker lissencephaly syndrome ISO RGD:1316775 D RGD:9068941 20220825 MouseDO OMIM:247200 11708993 HIC1 HIC ZBTB transcriptional repressor 1 gene DOID:4448 macular degeneration ISO RGD:1316774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30742112 11708993 HIC1 HIC ZBTB transcriptional repressor 1 gene DOID:630 genetic disease ISO RGD:1316774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11708993 HIC1 HIC ZBTB transcriptional repressor 1 gene DOID:9003896 Polyps ISO RGD:1316774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297660 11708993 HIC1 HIC ZBTB transcriptional repressor 1 gene DOID:9006796 Gastrointestinal Neoplasms ISO RGD:1316774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297660 11708993 HIC1 HIC ZBTB transcriptional repressor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1316774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20154726 11708998 AHR aryl hydrocarbon receptor gene DOID:0014667 disease of metabolism ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25768209 11708998 AHR aryl hydrocarbon receptor gene DOID:0060041 autism spectrum disorder ISO RGD:731071 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11708998 AHR aryl hydrocarbon receptor gene DOID:0060180 colitis ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27783946 11708998 AHR aryl hydrocarbon receptor gene DOID:0080011 bone resorption disease ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19934163 11708998 AHR aryl hydrocarbon receptor gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29416063 11708998 AHR aryl hydrocarbon receptor gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:731071 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35687267 11708998 AHR aryl hydrocarbon receptor gene DOID:0112142 retinitis pigmentosa 85 ISO RGD:731071 D RGD:7240710 20190315 OMIM 11708998 AHR aryl hydrocarbon receptor gene DOID:0112142 retinitis pigmentosa 85 ISO RGD:731071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 85 PMID:29726989 11708998 AHR aryl hydrocarbon receptor gene DOID:10325 silicosis ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22273745 11708998 AHR aryl hydrocarbon receptor gene DOID:10603 glucose intolerance ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31306034 11708998 AHR aryl hydrocarbon receptor gene DOID:10763 hypertension ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21115475 11708998 AHR aryl hydrocarbon receptor gene DOID:11355 bladder calculus ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22232670 11708998 AHR aryl hydrocarbon receptor gene DOID:12336 male infertility ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21613234 11708998 AHR aryl hydrocarbon receptor gene DOID:13241 Behcet's disease ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25045206 11708998 AHR aryl hydrocarbon receptor gene DOID:14566 disease of cellular proliferation ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22037238 11708998 AHR aryl hydrocarbon receptor gene DOID:161 keratosis ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 11708998 AHR aryl hydrocarbon receptor gene DOID:1682 congenital heart disease ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19261855 11708998 AHR aryl hydrocarbon receptor gene DOID:178 vascular disease ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25482063 11708998 AHR aryl hydrocarbon receptor gene DOID:1793 pancreatic cancer ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12203118|PMID:25826687 11708998 AHR aryl hydrocarbon receptor gene DOID:1793 pancreatic cancer ISO RGD:731071 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:12203118|REF_RGD_ID:2325664 11708998 AHR aryl hydrocarbon receptor gene DOID:1936 atherosclerosis ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228805 11708998 AHR aryl hydrocarbon receptor gene DOID:2529 splenic disease ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20961953 11708998 AHR aryl hydrocarbon receptor gene DOID:2773 contact dermatitis ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11708998 AHR aryl hydrocarbon receptor gene DOID:3138 acanthosis nigricans ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 11708998 AHR aryl hydrocarbon receptor gene DOID:3310 atopic dermatitis ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 11708998 AHR aryl hydrocarbon receptor gene DOID:3910 lung adenocarcinoma ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12597446 11708998 AHR aryl hydrocarbon receptor gene DOID:409 liver disease ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20961953|PMID:8692887 11708998 AHR aryl hydrocarbon receptor gene DOID:4378 peanut allergy ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21804081 11708998 AHR aryl hydrocarbon receptor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11708998 AHR aryl hydrocarbon receptor gene DOID:5082 liver cirrhosis ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29416063 11708998 AHR aryl hydrocarbon receptor gene DOID:552 pneumonia ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23337360 11708998 AHR aryl hydrocarbon receptor gene DOID:630 genetic disease ISO RGD:731071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11708998 AHR aryl hydrocarbon receptor gene DOID:7148 rheumatoid arthritis ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18617548 11708998 AHR aryl hydrocarbon receptor gene DOID:9000040 Hypertrophy ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20961953 11708998 AHR aryl hydrocarbon receptor gene DOID:9000217 Stomach Neoplasms ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12107286 11708998 AHR aryl hydrocarbon receptor gene DOID:9000310 Lung Injury ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25831079 11708998 AHR aryl hydrocarbon receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21948867 11708998 AHR aryl hydrocarbon receptor gene DOID:9001009 Adult Pancreatic Cancer ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12203118 11708998 AHR aryl hydrocarbon receptor gene DOID:9001310 Tobacco Use Disorder ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25482063 11708998 AHR aryl hydrocarbon receptor gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:731071 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:33836606 11708998 AHR aryl hydrocarbon receptor gene DOID:9001981 Weight Loss ISO RGD:731071 D RGD:9068941 20220609 CTD CTD Direct Evidence: therapeutic PMID:34848246 11708998 AHR aryl hydrocarbon receptor gene DOID:9002170 Experimental Neoplasms ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9496914 11708998 AHR aryl hydrocarbon receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20140206 11708998 AHR aryl hydrocarbon receptor gene DOID:9002457 Experimental Arthritis ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25194622 11708998 AHR aryl hydrocarbon receptor gene DOID:9002554 Tachycardia ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21115475 11708998 AHR aryl hydrocarbon receptor gene DOID:9002720 Splenomegaly ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8692887 11708998 AHR aryl hydrocarbon receptor gene DOID:9003281 Spontaneous Abortions ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26593447 11708998 AHR aryl hydrocarbon receptor gene DOID:9003370 Dyslipidemias ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21890736 11708998 AHR aryl hydrocarbon receptor gene DOID:9003753 Ureteral Neoplasms ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19755661 11708998 AHR aryl hydrocarbon receptor gene DOID:9003936 Cardiomegaly ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24247421 11708998 AHR aryl hydrocarbon receptor gene DOID:9003984 Hyperpigmentation ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28029781 11708998 AHR aryl hydrocarbon receptor gene DOID:9003996 Birth Weight ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27592400 11708998 AHR aryl hydrocarbon receptor gene DOID:9004462 Atrophy ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20961953|PMID:7826670 11708998 AHR aryl hydrocarbon receptor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25826687|PMID:27752740 11708998 AHR aryl hydrocarbon receptor gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14644620|PMID:31016362 11708998 AHR aryl hydrocarbon receptor gene DOID:9004657 Weight Gain ISO RGD:731071 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:27020609|PMID:30813227|PMID:31306034|PMID:36029422 11708998 AHR aryl hydrocarbon receptor gene DOID:9004980 Chronobiology Disorders ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23291558 11708998 AHR aryl hydrocarbon receptor gene DOID:9005099 Salmonella Infections, Animal severity ISO RGD:10127 D RGD:9068941 20201022 RGD PMID:24930766|REF_RGD_ID:39939032 11708998 AHR aryl hydrocarbon receptor gene DOID:9005369 Hepatomegaly ISO RGD:731071 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:26278112|PMID:28487374|PMID:33607186|PMID:34848246 11708998 AHR aryl hydrocarbon receptor gene DOID:9005372 Inflammation ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22273745|PMID:25768209 11708998 AHR aryl hydrocarbon receptor gene DOID:9005749 Necrosis ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25831079 11708998 AHR aryl hydrocarbon receptor gene DOID:9005930 Endotoxemia severity ISO RGD:10127 D RGD:9068941 20201022 RGD PMID:24930766|REF_RGD_ID:39939032 11708998 AHR aryl hydrocarbon receptor gene DOID:9006202 Pruritus ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 11708998 AHR aryl hydrocarbon receptor gene DOID:9006205 Animal Disease Models ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 11708998 AHR aryl hydrocarbon receptor gene DOID:9006257 Growth Disorders ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20961953 11708998 AHR aryl hydrocarbon receptor gene DOID:9006680 Hyperventilation ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21115475 11708998 AHR aryl hydrocarbon receptor gene DOID:9007188 Liver Neoplasms ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19996281|PMID:30346592 11708998 AHR aryl hydrocarbon receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731071 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21890736|PMID:34848246 11708998 AHR aryl hydrocarbon receptor gene DOID:9007456 Female Infertility ISO RGD:731071 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:36029422 11708998 AHR aryl hydrocarbon receptor gene DOID:9007480 Hyperoxia ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23337360 11708998 AHR aryl hydrocarbon receptor gene DOID:9007692 Insulin Resistance ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25734695 11708998 AHR aryl hydrocarbon receptor gene DOID:9008616 Patent Ductus Venosus ISO RGD:731071 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:36029422 11708998 AHR aryl hydrocarbon receptor gene DOID:9008939 Breast Neoplasms ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21515334|PMID:22296396 11708998 AHR aryl hydrocarbon receptor gene DOID:9649 congenital nystagmus ISO RGD:10127 D RGD:9068941 20220825 MouseDO OMIM:164100 | OMIM:193003 | OMIM:300589 | OMIM:300814 | OMIM:608345 | OMIM:614826 11708998 AHR aryl hydrocarbon receptor gene DOID:9649 congenital nystagmus ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23301081 11708998 AHR aryl hydrocarbon receptor gene DOID:9970 obesity ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27020609|PMID:30813227|PMID:31306034 11708998 AHR aryl hydrocarbon receptor gene DOID:9993 hypoglycemia ISO RGD:731071 D RGD:9068941 20220609 CTD CTD Direct Evidence: therapeutic PMID:34848246 11709013 MAP1LC3C microtubule associated protein 1 light chain 3 gamma gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1606859 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11709013 MAP1LC3C microtubule associated protein 1 light chain 3 gamma gene DOID:0111261 fumarase deficiency ISO RGD:1606859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fumarase deficiency PMID:11865300|PMID:12761039|PMID:21398687|PMID:22069215|PMID:28300276|PMID:28492532 11709013 MAP1LC3C microtubule associated protein 1 light chain 3 gamma gene DOID:1540 parathyroid carcinoma ISO RGD:1606859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11709013 MAP1LC3C microtubule associated protein 1 light chain 3 gamma gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11709013 MAP1LC3C microtubule associated protein 1 light chain 3 gamma gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1606859 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 11709013 MAP1LC3C microtubule associated protein 1 light chain 3 gamma gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11709028 PGP phosphoglycolate phosphatase gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1351096 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 11709028 PGP phosphoglycolate phosphatase gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1351096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 11709028 PGP phosphoglycolate phosphatase gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1351096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11709028 PGP phosphoglycolate phosphatase gene DOID:1826 epilepsy ISO RGD:1351096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11709028 PGP phosphoglycolate phosphatase gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1351096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11709028 PGP phosphoglycolate phosphatase gene DOID:2871 endometrial carcinoma ISO RGD:1351096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 11709028 PGP phosphoglycolate phosphatase gene DOID:630 genetic disease ISO RGD:1351096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11709028 PGP phosphoglycolate phosphatase gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1351096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 11709077 SNX21 sorting nexin family member 21 gene DOID:2234 focal epilepsy ISO RGD:1322486 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11709077 SNX21 sorting nexin family member 21 gene DOID:630 genetic disease ISO RGD:1322486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11709077 SNX21 sorting nexin family member 21 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1322486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11709102 SMIM20 small integral membrane protein 20 gene DOID:630 genetic disease ISO RGD:3418804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11709109 CMKLR2 chemerin chemokine-like receptor 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:732710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11709109 CMKLR2 chemerin chemokine-like receptor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11709133 KLK8 kallikrein related peptidase 8 gene DOID:630 genetic disease ISO RGD:1314360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11709154 FSD1L fibronectin type III and SPRY domain containing 1 like gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1353389 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:17044012|PMID:17878207|PMID:18752264|PMID:28492532 11709154 FSD1L fibronectin type III and SPRY domain containing 1 like gene DOID:630 genetic disease ISO RGD:1353389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11709178 LRRC7 leucine rich repeat containing 7 gene DOID:1059 intellectual disability ISO RGD:1349743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11709178 LRRC7 leucine rich repeat containing 7 gene DOID:630 genetic disease ISO RGD:1349743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11709178 LRRC7 leucine rich repeat containing 7 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1349743 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 11709212 ZNF326 zinc finger protein 326 gene DOID:630 genetic disease ISO RGD:1601703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11709235 BLTP3A bridge-like lipid transfer protein family member 3A gene DOID:0050553 JMP syndrome ISO RGD:1316354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11709235 BLTP3A bridge-like lipid transfer protein family member 3A gene DOID:630 genetic disease ISO RGD:1316354 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11709235 BLTP3A bridge-like lipid transfer protein family member 3A gene DOID:9005539 Familial Prostate Cancer ISO RGD:1316354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11709235 BLTP3A bridge-like lipid transfer protein family member 3A gene DOID:9074 systemic lupus erythematosus ISO RGD:1316354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838195 11709267 GJD4 gap junction protein delta 4 gene DOID:630 genetic disease ISO RGD:1603351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11709277 ADRB1 adrenoceptor beta 1 gene DOID:0050848 obstructive sleep apnea susceptibility ISO RGD:731289 D RGD:9068941 20200609 RGD associated with Hypertension;DNA:polymorphism: :p.R389G (human) PMID:20948559|REF_RGD_ID:4145102 11709277 ADRB1 adrenoceptor beta 1 gene DOID:10763 hypertension ISO RGD:2059 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:19060223|REF_RGD_ID:5129127 11709277 ADRB1 adrenoceptor beta 1 gene DOID:10763 hypertension ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10673262|PMID:9260993 11709277 ADRB1 adrenoceptor beta 1 gene DOID:10763 hypertension ISO RGD:731289 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; PMID:20398560|REF_RGD_ID:7241549 11709277 ADRB1 adrenoceptor beta 1 gene DOID:11664 nephrosclerosis disease_progression ISO RGD:731289 D RGD:9068941 20200609 RGD associated with hypertension;DNA:missense mutations, haplotype:cds:p.S49G(rs1801252),p.R389G (rs1801253)(human): PMID:19745105|REF_RGD_ID:7241815 11709277 ADRB1 adrenoceptor beta 1 gene DOID:1287 cardiovascular system disease ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11436944 11709277 ADRB1 adrenoceptor beta 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:18287209|REF_RGD_ID:5129132 11709277 ADRB1 adrenoceptor beta 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9554809 11709277 ADRB1 adrenoceptor beta 1 gene DOID:12932 endomyocardial fibrosis ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14502278 11709277 ADRB1 adrenoceptor beta 1 gene DOID:13544 low tension glaucoma susceptibility ISO RGD:731289 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R389G(human) PMID:16785856|REF_RGD_ID:8548468 11709277 ADRB1 adrenoceptor beta 1 gene DOID:1485 cystic fibrosis ISO RGD:731289 D RGD:9068941 20200609 RGD PMID:20203292|REF_RGD_ID:5129107 11709277 ADRB1 adrenoceptor beta 1 gene DOID:1591 renovascular hypertension ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:15592645|PMID:17278011|REF_RGD_ID:7241568|REF_RGD_ID:7241580 11709277 ADRB1 adrenoceptor beta 1 gene DOID:1712 aortic valve stenosis ISO RGD:731289 D RGD:9068941 20200609 RGD PMID:1648674|REF_RGD_ID:7241565 11709277 ADRB1 adrenoceptor beta 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:731289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to PMID:10212248|PMID:12374873|PMID:16844790|PMID:17496726 11709277 ADRB1 adrenoceptor beta 1 gene DOID:4195 hyperglycemia ISO RGD:2059 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expression:heart PMID:21831645|REF_RGD_ID:6893641 11709277 ADRB1 adrenoceptor beta 1 gene DOID:5844 myocardial infarction ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:17143192|REF_RGD_ID:7241557 11709277 ADRB1 adrenoceptor beta 1 gene DOID:6000 congestive heart failure ISO RGD:731289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congestive heart failure and beta-blocker response, modifier of PMID:10212248|PMID:12374873|PMID:16844790|PMID:17496726 11709277 ADRB1 adrenoceptor beta 1 gene DOID:630 genetic disease ISO RGD:731289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11709277 ADRB1 adrenoceptor beta 1 gene DOID:824 periodontitis ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:18275933|REF_RGD_ID:5129135 11709277 ADRB1 adrenoceptor beta 1 gene DOID:824 periodontitis ISO RGD:731289 D RGD:9068941 20200609 RGD PMID:21958237|REF_RGD_ID:7241545 11709277 ADRB1 adrenoceptor beta 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17003101 11709277 ADRB1 adrenoceptor beta 1 gene DOID:9000483 Angina Pectoris ISO RGD:731289 D RGD:9068941 20200609 RGD PMID:11527135|REF_RGD_ID:5129114 11709277 ADRB1 adrenoceptor beta 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2059 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:19785950|REF_RGD_ID:5129118 11709277 ADRB1 adrenoceptor beta 1 gene DOID:9002211 Hyperalgesia ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:19283893|REF_RGD_ID:5129125 11709277 ADRB1 adrenoceptor beta 1 gene DOID:9003996 Birth Weight ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23202124 11709277 ADRB1 adrenoceptor beta 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:20451506|REF_RGD_ID:5129116 11709277 ADRB1 adrenoceptor beta 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:17143192|REF_RGD_ID:7241557 11709277 ADRB1 adrenoceptor beta 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:731289 D RGD:9068941 20200609 RGD protein:decreased expression:left ventricle: PMID:8181801|REF_RGD_ID:7241563 11709277 ADRB1 adrenoceptor beta 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2059 D RGD:9068941 20200609 RGD protein:decreased expression:left ventricle muscular part PMID:21054861|REF_RGD_ID:5129115 11709277 ADRB1 adrenoceptor beta 1 gene DOID:9006450 Familial Natural Short Sleep 2 ISO RGD:731289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SHORT SLEEP, FAMILIAL NATURAL, 2 PMID:31473062 11709277 ADRB1 adrenoceptor beta 1 gene DOID:9007039 Ventricular Dysfunction ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14502278 11709277 ADRB1 adrenoceptor beta 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9554809 11709277 ADRB1 adrenoceptor beta 1 gene DOID:9007278 Anaphylaxis disease_progression ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:20959119|REF_RGD_ID:6893644 11709277 ADRB1 adrenoceptor beta 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:17201736|REF_RGD_ID:5129149 11709277 ADRB1 adrenoceptor beta 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10900253 11709277 ADRB1 adrenoceptor beta 1 gene DOID:9009039 Hyperemia ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17345787 11709277 ADRB1 adrenoceptor beta 1 gene DOID:9351 diabetes mellitus ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18378355 11709277 ADRB1 adrenoceptor beta 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:21491159|REF_RGD_ID:6893642 11709277 ADRB1 adrenoceptor beta 1 gene DOID:9970 obesity ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12032746 11709280 COL24A1 collagen type XXIV alpha 1 chain gene DOID:10283 prostate cancer ISO RGD:1349074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11709280 COL24A1 collagen type XXIV alpha 1 chain gene DOID:630 genetic disease ISO RGD:1349074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19204719|PMID:9724608 11709344 IL17F interleukin 17F gene DOID:630 genetic disease ISO RGD:1322840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11709344 IL17F interleukin 17F gene DOID:9002129 Candidiasis, Familial, 6 ISO RGD:1322840 D RGD:7240710 20180130 OMIM 11709344 IL17F interleukin 17F gene DOID:9002129 Candidiasis, Familial, 6 ISO RGD:1322840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 6 PMID:17576681|PMID:21350122|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30290665|PMID:32185379|PMID:9536098 11709351 LMO7 LIM domain 7 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1351855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11709351 LMO7 LIM domain 7 gene DOID:630 genetic disease ISO RGD:1351855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11709399 DLG2 discs large MAGUK scaffold protein 2 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:731938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 11709399 DLG2 discs large MAGUK scaffold protein 2 gene DOID:1059 intellectual disability ISO RGD:731938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11709399 DLG2 discs large MAGUK scaffold protein 2 gene DOID:1909 melanoma ISO RGD:731938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11709399 DLG2 discs large MAGUK scaffold protein 2 gene DOID:5419 schizophrenia ISO RGD:731938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11709399 DLG2 discs large MAGUK scaffold protein 2 gene DOID:630 genetic disease ISO RGD:731938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11709444 ACOX1 acyl-CoA oxidase 1 gene DOID:0050797 peroxisomal acyl-CoA oxidase deficiency ISO RGD:1344840 D RGD:7240710 20180130 OMIM 11709444 ACOX1 acyl-CoA oxidase 1 gene DOID:0050797 peroxisomal acyl-CoA oxidase deficiency ISO RGD:1344840 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy PMID:11815777|PMID:16199547|PMID:16773508|PMID:17458872|PMID:17576681|PMID:18536048|PMID:24033266|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26965209|PMID:28492532|PMID:2894756|PMID:30561787|PMID:31130284|PMID:32169171|PMID:33510602|PMID:8040306|PMID:8279468|PMID:9536098 11709444 ACOX1 acyl-CoA oxidase 1 gene DOID:630 genetic disease ISO RGD:1344840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32169171 11709444 ACOX1 acyl-CoA oxidase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1344840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12771043|PMID:15565109 11709444 ACOX1 acyl-CoA oxidase 1 gene DOID:9002088 MITCHELL SYNDROME ISO RGD:1344840 D RGD:7240710 20201104 OMIM 11709444 ACOX1 acyl-CoA oxidase 1 gene DOID:9002088 MITCHELL SYNDROME ISO RGD:1344840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitchell syndrome PMID:25741868|PMID:28492532|PMID:32169171 11709444 ACOX1 acyl-CoA oxidase 1 gene DOID:9005532 Muscle Weakness ISO RGD:1344840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868 11709444 ACOX1 acyl-CoA oxidase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1344840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563825 11709477 GRIK1 glutamate ionotropic receptor kainate type subunit 1 gene DOID:1824 status epilepticus ISO RGD:2732 D RGD:9068941 20200609 RGD PMID:12724156|REF_RGD_ID:1642496 11709477 GRIK1 glutamate ionotropic receptor kainate type subunit 1 gene DOID:1825 childhood absence epilepsy ISO RGD:731546 D RGD:9068941 20200609 RGD PMID:9259378|REF_RGD_ID:1358334 11709477 GRIK1 glutamate ionotropic receptor kainate type subunit 1 gene DOID:5419 schizophrenia no_association ISO RGD:731546 D RGD:9068941 20200609 RGD DNA:SNPs:three known and three novel:Japanese population PMID:11702055|REF_RGD_ID:1642476 11709477 GRIK1 glutamate ionotropic receptor kainate type subunit 1 gene DOID:630 genetic disease ISO RGD:731546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11709502 SCARB1 scavenger receptor class B member 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:735633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23127599 11709502 SCARB1 scavenger receptor class B member 1 gene DOID:1883 hepatitis C ISO RGD:735633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17517063 11709502 SCARB1 scavenger receptor class B member 1 gene DOID:305 carcinoma ISO RGD:735633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11709502 SCARB1 scavenger receptor class B member 1 gene DOID:4450 renal cell carcinoma ISO RGD:735633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21131975 11709502 SCARB1 scavenger receptor class B member 1 gene DOID:5062 phencyclidine abuse ISO RGD:735633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 11709502 SCARB1 scavenger receptor class B member 1 gene DOID:630 genetic disease ISO RGD:735633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11709502 SCARB1 scavenger receptor class B member 1 gene DOID:783 end stage renal disease ISO RGD:735633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 11709502 SCARB1 scavenger receptor class B member 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11709502 SCARB1 scavenger receptor class B member 1 gene DOID:9000528 Coronary Disease ISO RGD:735634 D RGD:9068941 20200609 RGD PMID:15967843|REF_RGD_ID:1580004 11709502 SCARB1 scavenger receptor class B member 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:735634 D RGD:9068941 20200609 RGD PMID:15967843|REF_RGD_ID:1580004 11709502 SCARB1 scavenger receptor class B member 1 gene DOID:9003370 Dyslipidemias ISO RGD:735633 D RGD:7240710 20181003 OMIM 11709502 SCARB1 scavenger receptor class B member 1 gene DOID:9003370 Dyslipidemias ISO RGD:735633 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: High density lipoprotein cholesterol level quantitative trait locus 6 PMID:21226579|PMID:21480869|PMID:25741868|PMID:26965621|PMID:28492532 11709502 SCARB1 scavenger receptor class B member 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11709502 SCARB1 scavenger receptor class B member 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 11709502 SCARB1 scavenger receptor class B member 1 gene DOID:9006379 Follicular Cyst ISO RGD:735633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20404351 11709502 SCARB1 scavenger receptor class B member 1 gene DOID:9505 cannabis abuse ISO RGD:735633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 11709528 PDPR pyruvate dehydrogenase phosphatase regulatory subunit gene DOID:0050777 Joubert syndrome ISO RGD:1602881 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25558065|PMID:27894351 11709528 PDPR pyruvate dehydrogenase phosphatase regulatory subunit gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1602881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11709528 PDPR pyruvate dehydrogenase phosphatase regulatory subunit gene DOID:630 genetic disease ISO RGD:1602881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11709532 CD63 CD63 molecule gene DOID:11105 fundus albipunctatus ISO RGD:735587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fundus albipunctatus, autosomal recessive | ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens PMID:10369264|PMID:10617778|PMID:11053295|PMID:11053296|PMID:11078852|PMID:11675386|PMID:11812441|PMID:15007239|PMID:15302662|PMID:15790919|PMID:17476461|PMID:18949499|PMID:20829743|PMID:21529959|PMID:22815624|PMID:25741868|PMID:25820994|PMID:28393863|PMID:28492532|PMID:29847639|PMID:32232344 11709532 CD63 CD63 molecule gene DOID:3407 carotid artery disease disease_progression ISO RGD:735587 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:platelet PMID:15817881|REF_RGD_ID:2314188 11709532 CD63 CD63 molecule gene DOID:630 genetic disease ISO RGD:735587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11709532 CD63 CD63 molecule gene DOID:8501 fundus dystrophy ISO RGD:735587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11675386|PMID:20829743|PMID:22815624|PMID:23462753|PMID:28492532|PMID:29847639 11709532 CD63 CD63 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11709532 CD63 CD63 molecule gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:735587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 11709532 CD63 CD63 molecule gene DOID:9007096 Stroke ISO RGD:735587 D RGD:9068941 20200609 RGD protein:increased expression:platelet PMID:19233449|REF_RGD_ID:2314182 11709532 CD63 CD63 molecule gene DOID:9743 diabetic neuropathy ISO RGD:735587 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:platelet PMID:10547212|REF_RGD_ID:2314203 11709550 PDE7B phosphodiesterase 7B gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:732248 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 11709550 PDE7B phosphodiesterase 7B gene DOID:0111955 immunodeficiency 27A ISO RGD:732248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 11709550 PDE7B phosphodiesterase 7B gene DOID:10283 prostate cancer ISO RGD:732248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11709550 PDE7B phosphodiesterase 7B gene DOID:630 genetic disease ISO RGD:732248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11709572 MAP9 microtubule associated protein 9 gene DOID:630 genetic disease ISO RGD:1605620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11709599 TOR1B torsin family 1 member B gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1318195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11709599 TOR1B torsin family 1 member B gene DOID:630 genetic disease ISO RGD:1318195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11709599 TOR1B torsin family 1 member B gene DOID:9001488 Human Influenza ISO RGD:1318195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11709608 RPS4X ribosomal protein S4 X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11709608 RPS4X ribosomal protein S4 X-linked gene DOID:12849 autistic disorder ISO RGD:1353859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11709608 RPS4X ribosomal protein S4 X-linked gene DOID:630 genetic disease ISO RGD:1353859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11709608 RPS4X ribosomal protein S4 X-linked gene DOID:9008939 Breast Neoplasms ISO RGD:1353859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 11709619 MYOZ2 myozenin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1316992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:17434779|PMID:19472918|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532|PMID:31513939|PMID:31534214 11709619 MYOZ2 myozenin 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1316992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 11709619 MYOZ2 myozenin 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1316992 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:28492532 11709619 MYOZ2 myozenin 2 gene DOID:0110322 hypertrophic cardiomyopathy 16 ISO RGD:1316992 D RGD:7240710 20180130 OMIM 11709619 MYOZ2 myozenin 2 gene DOID:0110322 hypertrophic cardiomyopathy 16 ISO RGD:1316992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 16 PMID:17347475|PMID:17434779|PMID:19472918|PMID:21681106|PMID:22987565|PMID:23310962|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28798025|PMID:31513939|PMID:31534214 11709619 MYOZ2 myozenin 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1316992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:16199547|PMID:17347475|PMID:17434779|PMID:17576681|PMID:19472918|PMID:22310962|PMID:22987565|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27066507|PMID:27341347|PMID:27532257|PMID:27600940|PMID:27788187|PMID:28492532|PMID:28798025|PMID:31513939|PMID:31534214|PMID:9536098 11709619 MYOZ2 myozenin 2 gene DOID:397 restrictive cardiomyopathy ISO RGD:1316992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 11709619 MYOZ2 myozenin 2 gene DOID:630 genetic disease ISO RGD:1316992 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11709619 MYOZ2 myozenin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11709629 ECD ecdysoneless cell cycle regulator gene DOID:630 genetic disease ISO RGD:1604642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11709651 FABP2 fatty acid binding protein 2 gene DOID:13001 carotid stenosis ISO RGD:735842 D RGD:9068941 20200609 RGD PMID:16013194|REF_RGD_ID:1582392 11709651 FABP2 fatty acid binding protein 2 gene DOID:14018 alcoholic liver cirrhosis onset ISO RGD:735842 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:amino acid A54T, homozygosity of the T allele associated with later onset PMID:16289894|REF_RGD_ID:1578455 11709651 FABP2 fatty acid binding protein 2 gene DOID:3393 coronary artery disease ISO RGD:735842 D RGD:9068941 20200609 RGD DNA:SNP:CDS:2445G>A, amino acid A54T, associated with Diabetes Mellitus, Type 2 (MeSH:D003924) in women PMID:15059615|REF_RGD_ID:1626412 11709651 FABP2 fatty acid binding protein 2 gene DOID:630 genetic disease ISO RGD:735842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11709651 FABP2 fatty acid binding protein 2 gene DOID:783 end stage renal disease ISO RGD:735842 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:amino acid A54T, associated with Diabetes Mellitus, Type 2 (MeSH:D003924) PMID:16249461|REF_RGD_ID:1578457 11709651 FABP2 fatty acid binding protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11709651 FABP2 fatty acid binding protein 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:735842 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:amino acid A54T, in a Brazilian population PMID:16249461|REF_RGD_ID:1578457 11709651 FABP2 fatty acid binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11709651 FABP2 fatty acid binding protein 2 gene DOID:9006599 Hypertriglyceridemia ISO RGD:735842 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:amino acid A54T, in a normal glucose tolerant population from urban south India PMID:16919542|REF_RGD_ID:1626401 11709651 FABP2 fatty acid binding protein 2 gene DOID:9006599 Hypertriglyceridemia ISO RGD:735842 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.A54T (human) PMID:10999802|REF_RGD_ID:1300313 11709651 FABP2 fatty acid binding protein 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:735842 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:amino acid A54T, in a normal glucose tolerant population from urban south India PMID:16919542|REF_RGD_ID:1626401 11709651 FABP2 fatty acid binding protein 2 gene DOID:9007096 Stroke ISO RGD:735842 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.A54T (human) PMID:10946885|REF_RGD_ID:1300312 11709651 FABP2 fatty acid binding protein 2 gene DOID:9007692 Insulin Resistance ISO RGD:735842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FATTY ACID-BINDING PROTEIN, INTESTINAL, POLYMORPHISM OF PMID:10946885|PMID:10999802|PMID:12161503|PMID:14666368|PMID:15572430|PMID:7883976|PMID:9253345 11709651 FABP2 fatty acid binding protein 2 gene DOID:9007692 Insulin Resistance no_association ISO RGD:735842 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:amino acid A54T, in Chilean Aymara and Mapuche ethnic groups PMID:17211557|REF_RGD_ID:1626407 11709651 FABP2 fatty acid binding protein 2 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:735842 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:amino acid A54T, in a population from urban south India PMID:16919542|REF_RGD_ID:1626401 11709651 FABP2 fatty acid binding protein 2 gene DOID:9970 obesity ISO RGD:735842 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:p.A54T (human) PMID:14981227|REF_RGD_ID:1626400 11709651 FABP2 fatty acid binding protein 2 gene DOID:9970 obesity no_association ISO RGD:735842 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:amino acid A54T, in Chilean Aymara and Mapuche ethnic groups PMID:17211557|REF_RGD_ID:1626407 11709651 FABP2 fatty acid binding protein 2 gene DOID:9970 obesity onset ISO RGD:735842 D RGD:9068941 20200609 RGD Early onset of obesity and resistance to reducing visceral white adipose tissue; DNA:polymorphism:CDS:amino acid A54T, in Japanese women with a BMI > 25 PMID:15620432|REF_RGD_ID:1578458 11709659 GSTZ1 glutathione S-transferase zeta 1 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1352057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:28492532 11709659 GSTZ1 glutathione S-transferase zeta 1 gene DOID:0080600 COVID-19 ISO RGD:1352057 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11709659 GSTZ1 glutathione S-transferase zeta 1 gene DOID:11054 urinary bladder cancer ISO RGD:1352057 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22306368 11709659 GSTZ1 glutathione S-transferase zeta 1 gene DOID:3426 vestibular disease ISO RGD:1352057 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18776599 11709659 GSTZ1 glutathione S-transferase zeta 1 gene DOID:630 genetic disease ISO RGD:1352057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11709659 GSTZ1 glutathione S-transferase zeta 1 gene DOID:9007857 Maleylacetoacetate Isomerase Deficiency ISO RGD:1352057 D RGD:7240710 20190315 OMIM 11709659 GSTZ1 glutathione S-transferase zeta 1 gene DOID:9007857 Maleylacetoacetate Isomerase Deficiency ISO RGD:1352057 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Maleylacetoacetate isomerase deficiency PMID:25741868|PMID:27876694 11709695 CCDC65 coiled-coil domain containing 65 gene DOID:0110611 primary ciliary dyskinesia 27 ISO RGD:1604557 D RGD:7240710 20180130 OMIM 11709695 CCDC65 coiled-coil domain containing 65 gene DOID:0110611 primary ciliary dyskinesia 27 ISO RGD:1604557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 27 PMID:16199547|PMID:17576681|PMID:23991085|PMID:24033266|PMID:24094744|PMID:25741868|PMID:28492532|PMID:9536098 11709695 CCDC65 coiled-coil domain containing 65 gene DOID:630 genetic disease ISO RGD:1604557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11709695 CCDC65 coiled-coil domain containing 65 gene DOID:9007073 Cough ISO RGD:1604557 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cough PMID:23991085|PMID:25741868|PMID:28492532 11709695 CCDC65 coiled-coil domain containing 65 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1604557 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 11709707 RNASE4 ribonuclease A family member 4 gene DOID:0060200 amyotrophic lateral sclerosis type 9 ISO RGD:736007 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9 PMID:16501576|PMID:17462671|PMID:17703939|PMID:17886298|PMID:17900154|PMID:18087731|PMID:18852347|PMID:19153377|PMID:19363631|PMID:19444281|PMID:19449021|PMID:19488901|PMID:20577002|PMID:22190368|PMID:22292843|PMID:22384259|PMID:22499346|PMID:22522484|PMID:22645277|PMID:22722621|PMID:23047679|PMID:23155438|PMID:23393617|PMID:23447461|PMID:23463871|PMID:23665167|PMID:25382069|PMID:25741868|PMID:26255299|PMID:26467025|PMID:26551617|PMID:26777436|PMID:28444446|PMID:28492532|PMID:29525178|PMID:30188356|PMID:31368019|PMID:31432357|PMID:32111867|PMID:32579787|PMID:32951934 11709707 RNASE4 ribonuclease A family member 4 gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:736007 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 PMID:17703939|PMID:18087731|PMID:22190368|PMID:25741868|PMID:28492532 11709707 RNASE4 ribonuclease A family member 4 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 11709707 RNASE4 ribonuclease A family member 4 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:736007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 11709707 RNASE4 ribonuclease A family member 4 gene DOID:630 genetic disease ISO RGD:736007 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11709707 RNASE4 ribonuclease A family member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 11709707 RNASE4 ribonuclease A family member 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11709707 RNASE4 ribonuclease A family member 4 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:736007 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11709707 RNASE4 ribonuclease A family member 4 gene DOID:9255 frontotemporal dementia ISO RGD:736007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:28492532 11709719 UNC93B1 unc-93 homolog B1, TLR signaling regulator gene DOID:1059 intellectual disability ISO RGD:1323726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11709719 UNC93B1 unc-93 homolog B1, TLR signaling regulator gene DOID:5082 liver cirrhosis ISO RGD:1323726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11709719 UNC93B1 unc-93 homolog B1, TLR signaling regulator gene DOID:630 genetic disease ISO RGD:1323726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11709719 UNC93B1 unc-93 homolog B1, TLR signaling regulator gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11709719 UNC93B1 unc-93 homolog B1, TLR signaling regulator gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1323726 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11709719 UNC93B1 unc-93 homolog B1, TLR signaling regulator gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:1323726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11709719 UNC93B1 unc-93 homolog B1, TLR signaling regulator gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1323726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11709719 UNC93B1 unc-93 homolog B1, TLR signaling regulator gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1323726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11709719 UNC93B1 unc-93 homolog B1, TLR signaling regulator gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1323726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:16973841|PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 11709719 UNC93B1 unc-93 homolog B1, TLR signaling regulator gene DOID:9009070 Herpes Simplex Encephalitis 1 susceptibility ISO RGD:1323726 D RGD:7240710 20190502 OMIM 11709754 KRT71 keratin 71 gene DOID:0110710 hypotrichosis 13 ISO RGD:1604251 D RGD:7240710 20180130 OMIM 11709754 KRT71 keratin 71 gene DOID:0110710 hypotrichosis 13 ISO RGD:1604251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotrichosis 13 PMID:22592156|PMID:25741868 11709754 KRT71 keratin 71 gene DOID:305 carcinoma ISO RGD:1604251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11709754 KRT71 keratin 71 gene DOID:4535 hypotrichosis ISO RGD:1604251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11709754 KRT71 keratin 71 gene DOID:630 genetic disease ISO RGD:1604251 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11709754 KRT71 keratin 71 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1604251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11709754 KRT71 keratin 71 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1604251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11709754 KRT71 keratin 71 gene DOID:987 alopecia ISO RGD:1584538 D RGD:9068941 20211022 RGD DNA:deletion:cds:intron 1, p.Val149_Gln154 del PMID:20179389|REF_RGD_ID:11570415 11709768 PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346757 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11709768 PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1346757 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11709768 PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1346757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11709768 PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1346757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 11709768 PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346757 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11709768 PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1346757 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:15879500|PMID:20414677|PMID:28492532 11709768 PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 gene DOID:630 genetic disease ISO RGD:1346757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11709854 OTOS otospiralin gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1349689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11709854 OTOS otospiralin gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1349689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11709854 OTOS otospiralin gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1349689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 11709854 OTOS otospiralin gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1349689 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11709854 OTOS otospiralin gene DOID:1059 intellectual disability ISO RGD:1349689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11709854 OTOS otospiralin gene DOID:630 genetic disease ISO RGD:1349689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11709854 OTOS otospiralin gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1349689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11709865 ARSH arylsulfatase family member H gene DOID:0060041 autism spectrum disorder ISO RGD:1605805 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11709865 ARSH arylsulfatase family member H gene DOID:12849 autistic disorder ISO RGD:1605805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11709865 ARSH arylsulfatase family member H gene DOID:630 genetic disease ISO RGD:1605805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11709865 ARSH arylsulfatase family member H gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11709875 CTSA cathepsin A gene DOID:0080540 galactosialidosis ISO RGD:1319205 D RGD:7240710 20180130 OMIM 11709875 CTSA cathepsin A gene DOID:0080540 galactosialidosis ISO RGD:1319205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined deficiency of sialidase AND beta galactosidase | ClinVar Annotator: match by term: Galactosialidosis, adult | ClinVar Annotator: match by term: Galactosialidosis, early infantile | ClinVar Annotator: match by term: Galactosialidosis, late infantile PMID:10333491|PMID:10571006|PMID:10944848|PMID:12649068|PMID:15110321|PMID:16199547|PMID:16538002|PMID:1756715|PMID:17576681|PMID:18937050|PMID:2148053|PMID:22386972|PMID:23806086|PMID:23915561|PMID:24033266|PMID:24088042|PMID:24769197|PMID:24779613|PMID:25075748|PMID:25741868|PMID:26036949|PMID:26259553|PMID:27664989|PMID:27848944|PMID:28334938|PMID:28454995|PMID:28492532|PMID:28603679|PMID:28702507|PMID:29333829|PMID:29876240|PMID:3149149|PMID:32036093|PMID:8514852|PMID:8968752|PMID:9536098|PMID:9603439 11709875 CTSA cathepsin A gene DOID:1826 epilepsy ISO RGD:1319205 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11709875 CTSA cathepsin A gene DOID:2234 focal epilepsy ISO RGD:1319205 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11709875 CTSA cathepsin A gene DOID:3211 lysosomal storage disease ISO RGD:1319205 D RGD:9068941 20200609 RGD PMID:8514852|REF_RGD_ID:1599169 11709875 CTSA cathepsin A gene DOID:630 genetic disease ISO RGD:1319205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18937050|PMID:28492532 11709875 CTSA cathepsin A gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1319205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11709875 CTSA cathepsin A gene DOID:9008386 Hydrops Fetalis ISO RGD:1319205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 11709899 NOP14 NOP14 nucleolar protein gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1313732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 11709899 NOP14 NOP14 nucleolar protein gene DOID:1856 cherubism ISO RGD:1313732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11709899 NOP14 NOP14 nucleolar protein gene DOID:630 genetic disease ISO RGD:1313732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11709921 AFG1L AFG1 like ATPase gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1349497 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 11709921 AFG1L AFG1 like ATPase gene DOID:630 genetic disease ISO RGD:1349497 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11709935 MYBL2 MYB proto-oncogene like 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1318264 D RGD:9068941 20220825 MouseDO OMIM:614286 11709935 MYBL2 MYB proto-oncogene like 2 gene DOID:0080600 COVID-19 ISO RGD:1318263 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11709935 MYBL2 MYB proto-oncogene like 2 gene DOID:2234 focal epilepsy ISO RGD:1318263 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11709935 MYBL2 MYB proto-oncogene like 2 gene DOID:630 genetic disease ISO RGD:1318263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11709935 MYBL2 MYB proto-oncogene like 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1318263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11709935 MYBL2 MYB proto-oncogene like 2 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1318263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11709935 MYBL2 MYB proto-oncogene like 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1318264 D RGD:9068941 20220825 MouseDO OMIM:601626 11709954 GIPC1 GIPC PDZ domain containing family member 1 gene DOID:0081298 oculopharyngodistal myopathy 2 ISO RGD:733913 D RGD:7240710 20200722 OMIM 11709954 GIPC1 GIPC PDZ domain containing family member 1 gene DOID:630 genetic disease ISO RGD:733913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11709965 ABCC4 ATP binding cassette subfamily C member 4 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1352399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 11709965 ABCC4 ATP binding cassette subfamily C member 4 gene DOID:10283 prostate cancer ISO RGD:1352399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11709965 ABCC4 ATP binding cassette subfamily C member 4 gene DOID:13580 cholestasis ISO RGD:620266 D RGD:9068941 20200609 RGD protein:altered expression:kidney, liver PMID:15030973|REF_RGD_ID:2301085 11709965 ABCC4 ATP binding cassette subfamily C member 4 gene DOID:13580 cholestasis treatment ISO RGD:620266 D RGD:9068941 20200609 RGD PMID:30223280|REF_RGD_ID:15045612 11709965 ABCC4 ATP binding cassette subfamily C member 4 gene DOID:13619 extrahepatic cholestasis treatment ISO RGD:620266 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:29360226|REF_RGD_ID:14995480 11709965 ABCC4 ATP binding cassette subfamily C member 4 gene DOID:1561 cognitive disorder ISO RGD:1352399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 11709965 ABCC4 ATP binding cassette subfamily C member 4 gene DOID:289 endometriosis ISO RGD:1352399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25446850 11709965 ABCC4 ATP binding cassette subfamily C member 4 gene DOID:303 substance-related disorder ISO RGD:1352399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11709965 ABCC4 ATP binding cassette subfamily C member 4 gene DOID:630 genetic disease ISO RGD:1352399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11709965 ABCC4 ATP binding cassette subfamily C member 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1352399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 11709965 ABCC4 ATP binding cassette subfamily C member 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17003774 11709965 ABCC4 ATP binding cassette subfamily C member 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17003774 11709965 ABCC4 ATP binding cassette subfamily C member 4 gene DOID:9002661 Diabetes Complications ISO RGD:1352399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 11709965 ABCC4 ATP binding cassette subfamily C member 4 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1352399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11709965 ABCC4 ATP binding cassette subfamily C member 4 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1352399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23222202 11709965 ABCC4 ATP binding cassette subfamily C member 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1352399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 11710007 IBA57 iron-sulfur cluster assembly factor IBA57 gene DOID:0070330 multiple mitochondrial dysfunctions syndrome ISO RGD:1606941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11710007 IBA57 iron-sulfur cluster assembly factor IBA57 gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:1606941 D RGD:7240710 20180130 OMIM 11710007 IBA57 iron-sulfur cluster assembly factor IBA57 gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:1606941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:16199547|PMID:17576681|PMID:23462291|PMID:24033266|PMID:25741868|PMID:25971455|PMID:27785568|PMID:28492532|PMID:28671726|PMID:28803783|PMID:28913435|PMID:29353736|PMID:30258207|PMID:32180488|PMID:32348839|PMID:34906502|PMID:9536098 11710007 IBA57 iron-sulfur cluster assembly factor IBA57 gene DOID:0110819 hereditary spastic paraplegia 74 ISO RGD:1606941 D RGD:7240710 20180130 OMIM 11710007 IBA57 iron-sulfur cluster assembly factor IBA57 gene DOID:0110819 hereditary spastic paraplegia 74 ISO RGD:1606941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 74 | ClinVar Annotator: match by term: Spastic paraplegia 74, autosomal recessive PMID:17576681|PMID:23462291|PMID:25609768|PMID:25741868|PMID:25971455|PMID:27785568|PMID:28492532|PMID:28671726|PMID:30258207|PMID:34906502|PMID:9536098 11710007 IBA57 iron-sulfur cluster assembly factor IBA57 gene DOID:10907 microcephaly ISO RGD:1606941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11710007 IBA57 iron-sulfur cluster assembly factor IBA57 gene DOID:1540 parathyroid carcinoma ISO RGD:1606941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11710007 IBA57 iron-sulfur cluster assembly factor IBA57 gene DOID:607 paraplegia ISO RGD:1606941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11710007 IBA57 iron-sulfur cluster assembly factor IBA57 gene DOID:630 genetic disease ISO RGD:1606941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27785568|PMID:28492532|PMID:28671726 11710007 IBA57 iron-sulfur cluster assembly factor IBA57 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11710014 DIMT1 DIM1 rRNA methyltransferase and ribosome maturation factor gene DOID:630 genetic disease ISO RGD:1603655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11710014 DIMT1 DIM1 rRNA methyltransferase and ribosome maturation factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11710044 FBXO21 F-box protein 21 gene DOID:630 genetic disease ISO RGD:1316490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11710044 FBXO21 F-box protein 21 gene DOID:9004657 Weight Gain ISO RGD:1316490 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11710061 WNK2 WNK lysine deficient protein kinase 2 gene DOID:224 transient cerebral ischemia ISO RGD:1307284 D RGD:9068941 20200609 RGD PMID:27798271|REF_RGD_ID:14398833 11710061 WNK2 WNK lysine deficient protein kinase 2 gene DOID:630 genetic disease ISO RGD:1349205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11710094 MAGEE2 MAGE family member E2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11710094 MAGEE2 MAGE family member E2 gene DOID:12849 autistic disorder ISO RGD:1346034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11710094 MAGEE2 MAGE family member E2 gene DOID:630 genetic disease ISO RGD:1346034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11710099 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:0060001 withdrawal disorder ISO RGD:736842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17105947 11710099 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11710099 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:10283 prostate cancer ISO RGD:736842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11710099 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:11476 osteoporosis ISO RGD:736842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 PMID:24088041|PMID:26633545 11710099 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:11983 Prader-Willi syndrome ISO RGD:10748 D RGD:9068941 20220825 MouseDO OMIM:176270 11710099 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:12849 autistic disorder ISO RGD:736842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11710099 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:1470 major depressive disorder treatment ISO RGD:2848 D RGD:9068941 20200609 RGD mRNA:increased editing PMID:16005997|REF_RGD_ID:1624993 11710099 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:2030 anxiety disorder ISO RGD:2848 D RGD:9068941 20200609 RGD PMID:17074317|REF_RGD_ID:1625000 11710099 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:303 substance-related disorder ISO RGD:2848 D RGD:9068941 20200609 RGD PMID:16474401|REF_RGD_ID:2292548 11710099 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:3312 bipolar disorder ISO RGD:736842 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C23S (human) PMID:8823764|REF_RGD_ID:1358737 11710099 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:5419 schizophrenia ISO RGD:736842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11710099 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:5419 schizophrenia treatment ISO RGD:736842 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C23S (human) PMID:8742444|REF_RGD_ID:1358736 11710099 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:630 genetic disease ISO RGD:736842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11710099 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:9000641 Pain ISO RGD:2848 D RGD:9068941 20200609 RGD PMID:17451674|REF_RGD_ID:1624996 11710099 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2848 D RGD:9068941 20200609 RGD protein:increased expression:brainstem, cerebral cortex PMID:17258772|REF_RGD_ID:1624998 11710099 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:9002362 Hyperkinesis ISO RGD:736842 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19347958 11710099 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:9004657 Weight Gain ISO RGD:736842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19434072|PMID:19997080 11710099 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:9005968 Neuralgia ISO RGD:736842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28011743 11710099 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:9006646 Metabolic Syndrome ISO RGD:736842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17632216|PMID:18515891|PMID:19142101 11710099 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:9352 type 2 diabetes mellitus ISO RGD:10748 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 11710099 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:9970 obesity ISO RGD:736842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17702092|PMID:19142110 11710099 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:9970 obesity susceptibility ISO RGD:736842 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-759C>T PMID:15048662|REF_RGD_ID:1624991 11710099 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:9970 obesity susceptibility ISO RGD:736842 D RGD:9068941 20200609 RGD associated with Schizophrenia and Psychotic Disorders;DNA:polymorphisms:promoter:multiple PMID:17016522|REF_RGD_ID:1624982 11710105 GPRC5A G protein-coupled receptor class C group 5 member A gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1603705 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 11710105 GPRC5A G protein-coupled receptor class C group 5 member A gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1603705 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 11710105 GPRC5A G protein-coupled receptor class C group 5 member A gene DOID:630 genetic disease ISO RGD:1603705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11710105 GPRC5A G protein-coupled receptor class C group 5 member A gene DOID:7148 rheumatoid arthritis ISO RGD:1603705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17379860 11710113 UBA5 ubiquitin like modifier activating enzyme 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1323296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24033266|PMID:25741868|PMID:27545674|PMID:27545681|PMID:27926783|PMID:28492532|PMID:28965491|PMID:29286531|PMID:33811063 11710113 UBA5 ubiquitin like modifier activating enzyme 5 gene DOID:0080424 developmental and epileptic encephalopathy 44 ISO RGD:1323296 D RGD:7240710 20190315 OMIM 11710113 UBA5 ubiquitin like modifier activating enzyme 5 gene DOID:0080424 developmental and epileptic encephalopathy 44 ISO RGD:1323296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 44 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 44 PMID:24033266|PMID:25741868|PMID:27545674|PMID:27545681|PMID:27926783|PMID:28492532|PMID:28965491|PMID:29286531|PMID:29663568|PMID:32371413|PMID:33811063 11710113 UBA5 ubiquitin like modifier activating enzyme 5 gene DOID:0111615 autosomal recessive spinocerebellar ataxia 24 ISO RGD:1323296 D RGD:7240710 20190315 OMIM 11710113 UBA5 ubiquitin like modifier activating enzyme 5 gene DOID:0111615 autosomal recessive spinocerebellar ataxia 24 ISO RGD:1323296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 24 PMID:24033266|PMID:25741868|PMID:26872069|PMID:27545674|PMID:27545681|PMID:27926783|PMID:28492532|PMID:28965491|PMID:29286531|PMID:33811063 11710113 UBA5 ubiquitin like modifier activating enzyme 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1323296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24033266|PMID:25741868|PMID:27545674|PMID:27545681|PMID:27926783|PMID:28492532|PMID:28965491|PMID:29286531|PMID:33811063 11710113 UBA5 ubiquitin like modifier activating enzyme 5 gene DOID:12712 nephronophthisis ISO RGD:1323296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:18371931|PMID:23559409|PMID:28492532 11710113 UBA5 ubiquitin like modifier activating enzyme 5 gene DOID:13580 cholestasis ISO RGD:1323296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 11710113 UBA5 ubiquitin like modifier activating enzyme 5 gene DOID:630 genetic disease ISO RGD:1323296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:27653677|PMID:28492532|PMID:30287594|PMID:33853163 11710113 UBA5 ubiquitin like modifier activating enzyme 5 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1323296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11710113 UBA5 ubiquitin like modifier activating enzyme 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1323296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 11710113 UBA5 ubiquitin like modifier activating enzyme 5 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1323296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 11710113 UBA5 ubiquitin like modifier activating enzyme 5 gene DOID:9270 alkaptonuria ISO RGD:1323296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11710129 USP45 ubiquitin specific peptidase 45 gene DOID:0081169 Leber congenital amaurosis 19 ISO RGD:1322181 D RGD:7240710 20190814 OMIM 11710129 USP45 ubiquitin specific peptidase 45 gene DOID:0081169 Leber congenital amaurosis 19 ISO RGD:1322181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 19 PMID:25741868|PMID:30573563 11710129 USP45 ubiquitin specific peptidase 45 gene DOID:630 genetic disease ISO RGD:1322181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11710129 USP45 ubiquitin specific peptidase 45 gene DOID:9007661 Dwarfism ISO RGD:1322181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11710175 CHERP calcium homeostasis endoplasmic reticulum protein gene DOID:630 genetic disease ISO RGD:1313214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11710202 NICN1 nicolin 1, tubulin polyglutamylase complex subunit gene DOID:0060852 Pierson syndrome ISO RGD:1350970 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 11710202 NICN1 nicolin 1, tubulin polyglutamylase complex subunit gene DOID:630 genetic disease ISO RGD:1350970 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11710202 NICN1 nicolin 1, tubulin polyglutamylase complex subunit gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1350970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11710202 NICN1 nicolin 1, tubulin polyglutamylase complex subunit gene DOID:9003907 Aicardi-Goutieres Syndrome 2 ISO RGD:1350970 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 PMID:25741868|PMID:28492532 11710202 NICN1 nicolin 1, tubulin polyglutamylase complex subunit gene DOID:9268 glycine encephalopathy ISO RGD:1350970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:16199547|PMID:16450403|PMID:17576681|PMID:19299230|PMID:23352163|PMID:25741868|PMID:26179960|PMID:26467025|PMID:27362913|PMID:27620832|PMID:28492532|PMID:30105116|PMID:8005589|PMID:9536098|PMID:9621520 11710221 ENKUR enkurin, TRPC channel interacting protein gene DOID:630 genetic disease ISO RGD:1320397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11710240 TPRN taperin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1352518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB PMID:20170899|PMID:30303587 11710240 TPRN taperin gene DOID:0050777 Joubert syndrome ISO RGD:1352518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11710240 TPRN taperin gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1352518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 11710240 TPRN taperin gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1352518 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 11710240 TPRN taperin gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1352518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11710240 TPRN taperin gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1352518 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11710240 TPRN taperin gene DOID:0081097 Rafiq syndrome ISO RGD:1352518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11710240 TPRN taperin gene DOID:0110526 autosomal recessive nonsyndromic deafness 79 ISO RGD:1352518 D RGD:7240710 20180130 OMIM 11710240 TPRN taperin gene DOID:0110526 autosomal recessive nonsyndromic deafness 79 ISO RGD:1352518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 79 PMID:20170898|PMID:20170899|PMID:24033266|PMID:25741868|PMID:26969326|PMID:28492532|PMID:30303587 11710240 TPRN taperin gene DOID:1826 epilepsy ISO RGD:1352518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11710240 TPRN taperin gene DOID:630 genetic disease ISO RGD:1352518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 11710240 TPRN taperin gene DOID:9004538 Hearing Loss ISO RGD:1352518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30311386 11710240 TPRN taperin gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1352518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11710251 GDI2 GDP dissociation inhibitor 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1346683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11710251 GDI2 GDP dissociation inhibitor 2 gene DOID:14250 Down syndrome ISO RGD:1346683 D RGD:9068941 20200609 RGD protein:decreased expression:brain (human) PMID:11771757|REF_RGD_ID:13208830 11710251 GDI2 GDP dissociation inhibitor 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1346683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 11710251 GDI2 GDP dissociation inhibitor 2 gene DOID:5419 schizophrenia ISO RGD:1346683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11710251 GDI2 GDP dissociation inhibitor 2 gene DOID:630 genetic disease ISO RGD:1346683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11710266 RTKN2 rhotekin 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1312504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 11710266 RTKN2 rhotekin 2 gene DOID:630 genetic disease ISO RGD:1312504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11710290 COPA COPI coat complex subunit alpha gene DOID:0060178 familial hemiplegic migraine ISO RGD:1321477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 11710290 COPA COPI coat complex subunit alpha gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:1321477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) PMID:28492532 11710290 COPA COPI coat complex subunit alpha gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1321477 D RGD:7240710 20180130 OMIM 11710290 COPA COPI coat complex subunit alpha gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1321477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:17576681|PMID:25741868|PMID:25894502|PMID:27577878|PMID:28492532|PMID:29137621|PMID:31905480|PMID:32040879|PMID:32778887|PMID:9536098 11710290 COPA COPI coat complex subunit alpha gene DOID:11162 respiratory failure ISO RGD:1321477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Acute respiratory failure PMID:25741868|PMID:25894502|PMID:28191890|PMID:30804679|PMID:32778887 11710290 COPA COPI coat complex subunit alpha gene DOID:1540 parathyroid carcinoma ISO RGD:1321477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11710290 COPA COPI coat complex subunit alpha gene DOID:3082 interstitial lung disease ISO RGD:1321477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25894502 11710290 COPA COPI coat complex subunit alpha gene DOID:417 autoimmune disease ISO RGD:1321477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25894502 11710290 COPA COPI coat complex subunit alpha gene DOID:630 genetic disease ISO RGD:1321477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11710290 COPA COPI coat complex subunit alpha gene DOID:848 arthritis ISO RGD:1321477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25894502 11710290 COPA COPI coat complex subunit alpha gene DOID:850 lung disease ISO RGD:1321477 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chronic lung disease PMID:25741868 11710290 COPA COPI coat complex subunit alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11710327 SLC38A7 solute carrier family 38 member 7 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602480 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11710327 SLC38A7 solute carrier family 38 member 7 gene DOID:0080600 COVID-19 ISO RGD:1602480 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11710327 SLC38A7 solute carrier family 38 member 7 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602480 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11710327 SLC38A7 solute carrier family 38 member 7 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11710327 SLC38A7 solute carrier family 38 member 7 gene DOID:630 genetic disease ISO RGD:1602480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11710350 ZNF827 zinc finger protein 827 gene DOID:0060041 autism spectrum disorder ISO RGD:1606144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11710350 ZNF827 zinc finger protein 827 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1606144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 11710350 ZNF827 zinc finger protein 827 gene DOID:630 genetic disease ISO RGD:1606144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11710396 POLR2I RNA polymerase II subunit I gene DOID:0110222 Brugada syndrome 5 ISO RGD:1319717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11710396 POLR2I RNA polymerase II subunit I gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1319717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11710396 POLR2I RNA polymerase II subunit I gene DOID:630 genetic disease ISO RGD:1319717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:0050700 cardiomyopathy ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10620750 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:0050855 renal fibrosis ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:23698112|REF_RGD_ID:7244171 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:0050861 colorectal adenocarcinoma treatment ISO RGD:732502 D RGD:9068941 20200609 RGD PMID:25405740|REF_RGD_ID:13210782 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:0060001 withdrawal disorder ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17549049 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732503 D RGD:9068941 20220825 MouseDO 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:732502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:0080599 Coronavirus infectious disease ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20484496 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23516525 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:0112161 Noonan syndrome 13 ISO RGD:732502 D RGD:7240710 20201111 OMIM 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:0112161 Noonan syndrome 13 ISO RGD:732502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome 13 PMID:25741868|PMID:28492532|PMID:32721402 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:1059 intellectual disability ISO RGD:732502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:32721402 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:732502 D RGD:9068941 20200609 RGD mRNA:increased expression: CA2 field of hippocampus, pyramidal neuron PMID:24334724|REF_RGD_ID:13800868 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:732503 D RGD:9068941 20200609 RGD PMID:28079060|REF_RGD_ID:13800563 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:10808 gastric ulcer ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:25518106|REF_RGD_ID:13800896 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:11198 DiGeorge syndrome ISO RGD:732502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:12098 trigeminal neuralgia ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:12577 urethral obstruction ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:23698112|REF_RGD_ID:7244171 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:732503 D RGD:9068941 20220825 MouseDO OMIM:192430 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:13619 extrahepatic cholestasis ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:1612 breast cancer ISO RGD:732502 D RGD:9068941 20200609 RGD protein:increased expression, increased phosphorylation:breast PMID:15928662|REF_RGD_ID:2314939 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:1682 congenital heart disease ISO RGD:732502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of | ClinVar Annotator: match by term: Isolated Nonsyndromic Congenital Heart Disease PMID:25741868|PMID:32721402 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:1682 congenital heart disease ISO RGD:732502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868|PMID:28492532|PMID:32721402 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:1781 thyroid gland cancer disease_progression ISO RGD:732502 D RGD:9068941 20200609 RGD mRNA, protein:increased expression PMID:28992617|REF_RGD_ID:13792721 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:2316 brain ischemia ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17901229 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:2316 brain ischemia ISO RGD:732503 D RGD:9068941 20200609 RGD PMID:15669185|REF_RGD_ID:1582281 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:234 colon adenocarcinoma ISO RGD:732502 D RGD:9068941 20200609 RGD PMID:24691442|REF_RGD_ID:13210775 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:732502 D RGD:9068941 20200609 RGD PMID:28492138|REF_RGD_ID:13504818 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:732503 D RGD:9068941 20200609 RGD PMID:22139534|REF_RGD_ID:13504820 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:2671 transitional cell carcinoma ISO RGD:732502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:26619011 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:2870 endometrial adenocarcinoma ISO RGD:732502 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:endometrium (human) PMID:14760076|REF_RGD_ID:13703137 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:2870 endometrial adenocarcinoma treatment ISO RGD:732502 D RGD:9068941 20200609 RGD human tumor in a mouse model PMID:23402905|REF_RGD_ID:13703125 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:2871 endometrial carcinoma ISO RGD:732502 D RGD:9068941 20200609 RGD protein:increased expression:endometrium (human) PMID:29081408|REF_RGD_ID:13702082 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:2871 endometrial carcinoma severity ISO RGD:732502 D RGD:9068941 20200609 RGD protein:increased phosphorylation:endometrium (human) PMID:22459351|REF_RGD_ID:13441552 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:2921 glomerulonephritis ISO RGD:732503 D RGD:9068941 20200609 RGD PMID:20203158|REF_RGD_ID:7243972 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20484496 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:3213 demyelinating disease ISO RGD:732503 D RGD:9068941 20200609 RGD PMID:27596241|REF_RGD_ID:13800879 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:27152455|REF_RGD_ID:13800881 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:4074 pancreatic adenocarcinoma severity ISO RGD:732502 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (human) PMID:27919956|REF_RGD_ID:13451128 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:4247 coronary restenosis ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:15583728|REF_RGD_ID:1582284 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:732503 D RGD:9068941 20220825 MouseDO OMIM:261800 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:732502 D RGD:9068941 20200609 RGD DNA:missense mutation: :multiple PMID:22517515|REF_RGD_ID:13504815 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:5199 ureteral obstruction treatment ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:28063381|REF_RGD_ID:13800569 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:732502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:26619011 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:557 kidney disease ISO RGD:732502 D RGD:9068941 20200609 RGD PMID:15213271|REF_RGD_ID:7243971 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:5844 myocardial infarction ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:15653762|REF_RGD_ID:1582282 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:630 genetic disease ISO RGD:732502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:6432 pulmonary hypertension treatment ISO RGD:732502 D RGD:9068941 20200609 RGD PMID:25907942|REF_RGD_ID:13800893 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:6812 childhood pilocytic astrocytoma ISO RGD:732502 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:21466243|REF_RGD_ID:13702864 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:26619011 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:8541 Sezary's disease ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:8567 Hodgkin's lymphoma ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7545087 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9000040 Hypertrophy ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12237323 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9000099 Experimental Colitis treatment ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:27028006|REF_RGD_ID:13800882 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17003101 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22247605 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22580338 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:732503 D RGD:9068941 20200609 RGD associated with prostate adenocarcinoma PMID:22139534|REF_RGD_ID:13504820 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9001390 Testis Reperfusion Injury treatment ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:15944243|REF_RGD_ID:13800876 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:27396351|REF_RGD_ID:13800880 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:70500 D RGD:9068941 20200609 RGD protein: increased expression: lung and liver PMID:22392145|REF_RGD_ID:7244173 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24894820 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:732502 D RGD:9068941 20200609 RGD PMID:19923143|REF_RGD_ID:7243957 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9002211 Hyperalgesia ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12941468|PMID:27093858 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21813464 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9002549 Shock treatment ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:29110153|REF_RGD_ID:13800566 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16211241 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9002906 Multiple Organ Failure ISO RGD:70500 D RGD:9068941 20200609 RGD protein: increased expression: lung and liver PMID:22392145|REF_RGD_ID:7244173 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9002955 Nerve Degeneration ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19911010 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:732502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix PMID:26619011 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9003936 Cardiomegaly ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:15607907|REF_RGD_ID:1582283 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9004265 Endometrioid Carcinomas treatment ISO RGD:732502 D RGD:9068941 20200609 RGD PMID:24917306|REF_RGD_ID:13441559 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9004484 Sepsis ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15489642 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:732502 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34323000 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22580338 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9005100 Aberrant Crypt Foci ISO RGD:732502 D RGD:9068941 20200609 RGD PMID:23467982|REF_RGD_ID:13210776 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11884234|PMID:12376484 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:29435821|REF_RGD_ID:13800872 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16407894|PMID:20692647 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:22045654|REF_RGD_ID:7243969 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70500 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:cornea PMID:21330660|REF_RGD_ID:5131482 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342401 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9006205 Animal Disease Models ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9006880 Urinary Incontinence ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:22950999|REF_RGD_ID:7244159 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:70500 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:25907942|REF_RGD_ID:13800893 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9007402 Gliosis ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19402951 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9007456 Female Infertility ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21177758 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9007661 Dwarfism ISO RGD:732502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:32721402 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:15653762|REF_RGD_ID:1582282 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:25345742|REF_RGD_ID:13800900 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732502 D RGD:9068941 20200609 RGD PMID:10323886|REF_RGD_ID:13210794 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:70500 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:pancreas: PMID:27259299|REF_RGD_ID:13506776 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:70500 D RGD:9068941 20200609 RGD protein:hypophosphorylation:pancreatic islet: PMID:21911753|REF_RGD_ID:13506785 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732503 D RGD:9068941 20200609 RGD protein:increased expression:dorsal horn: PMID:28757391|REF_RGD_ID:13506777 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:19164460|REF_RGD_ID:13506786 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:732503 D RGD:9068941 20200609 RGD PMID:26860984|REF_RGD_ID:13506775 11710406 MAPK1 mitogen-activated protein kinase 1 gene DOID:9970 obesity ISO RGD:732502 D RGD:9068941 20200609 RGD protein:increased phosphorylation:endometrium (human) PMID:20074784|REF_RGD_ID:13782055 11710418 NXPE2 neurexophilin and PC-esterase domain family member 2 gene DOID:1059 intellectual disability ISO RGD:1349773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11710418 NXPE2 neurexophilin and PC-esterase domain family member 2 gene DOID:630 genetic disease ISO RGD:1349773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11710418 NXPE2 neurexophilin and PC-esterase domain family member 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1349773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11710418 NXPE2 neurexophilin and PC-esterase domain family member 2 gene DOID:9007661 Dwarfism ISO RGD:1349773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11710428 PILRA paired immunoglobin like type 2 receptor alpha gene DOID:10652 Alzheimer's disease ISO RGD:1318381 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:33589840 11710428 PILRA paired immunoglobin like type 2 receptor alpha gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318381 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11710428 PILRA paired immunoglobin like type 2 receptor alpha gene DOID:630 genetic disease ISO RGD:1318381 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11710513 STAU2 staufen double-stranded RNA binding protein 2 gene DOID:10629 microphthalmia ISO RGD:621479 D RGD:9068941 20200609 RGD PMID:22940085|REF_RGD_ID:10043154 11710513 STAU2 staufen double-stranded RNA binding protein 2 gene DOID:630 genetic disease ISO RGD:1351558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11710513 STAU2 staufen double-stranded RNA binding protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11710557 KLRF1 killer cell lectin like receptor F1 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1343603 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 11710557 KLRF1 killer cell lectin like receptor F1 gene DOID:630 genetic disease ISO RGD:1343603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11710557 KLRF1 killer cell lectin like receptor F1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1343603 D RGD:9068941 20220901 RGD mRNA:decreased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 11710582 C2AH2orf74 chromosome 2A C2orf74 homolog gene DOID:0050545 visceral heterotaxy ISO RGD:1615887 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 11710582 C2AH2orf74 chromosome 2A C2orf74 homolog gene DOID:0080485 peroxisome biogenesis disorder 11A ISO RGD:2298736 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) PMID:28492532 11710611 GSDMC gasdermin C gene DOID:630 genetic disease ISO RGD:1319081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11710629 TMCO2 transmembrane and coiled-coil domains 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11710629 TMCO2 transmembrane and coiled-coil domains 2 gene DOID:630 genetic disease ISO RGD:1603584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11710635 XPO6 exportin 6 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1322976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 11710635 XPO6 exportin 6 gene DOID:303 substance-related disorder ISO RGD:1322976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11710635 XPO6 exportin 6 gene DOID:630 genetic disease ISO RGD:1322976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11710676 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1349504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndrome PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 11710676 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1349504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11710676 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:1349504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11710676 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:11476 osteoporosis ISO RGD:1349504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 11710676 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1349504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 11710676 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:363 uterine cancer ISO RGD:1349504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 11710676 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1349504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 11710676 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1349504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 11710676 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1349504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11710676 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1349504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 11710676 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:6171 uterine carcinosarcoma ISO RGD:1349504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 11710676 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:630 genetic disease ISO RGD:1349504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11710676 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1349504 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11710676 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11710676 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1349504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 11710676 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1349504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 11710676 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:9263 homocystinuria ISO RGD:1349504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11710676 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1349504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11710689 TAS1R1 taste 1 receptor member 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:732021 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11710689 TAS1R1 taste 1 receptor member 1 gene DOID:630 genetic disease ISO RGD:732021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11710689 TAS1R1 taste 1 receptor member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11710701 CD82 CD82 molecule gene DOID:10283 prostate cancer disease_progression ISO RGD:1604068 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:12497033|REF_RGD_ID:2289404 11710701 CD82 CD82 molecule gene DOID:1059 intellectual disability ISO RGD:1604068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11710701 CD82 CD82 molecule gene DOID:10763 hypertension ISO RGD:69070 D RGD:9068941 20200609 RGD mRNA:increased expression:thymus PMID:10321446|REF_RGD_ID:2289422 11710701 CD82 CD82 molecule gene DOID:11054 urinary bladder cancer ISO RGD:1604068 D RGD:9068941 20200609 RGD PMID:17290345|REF_RGD_ID:2289391 11710701 CD82 CD82 molecule gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1604068 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:14706010|REF_RGD_ID:2289401 11710701 CD82 CD82 molecule gene DOID:2394 ovarian cancer disease_progression ISO RGD:1604068 D RGD:9068941 20200609 RGD protein:altered localization, decreased expression:ovary PMID:12079303|REF_RGD_ID:2289405 11710701 CD82 CD82 molecule gene DOID:2394 ovarian cancer disease_progression ISO RGD:1617636 D RGD:9068941 20200609 RGD protein:altered localization, decreased expression:ovary PMID:12079303|REF_RGD_ID:2289405 11710701 CD82 CD82 molecule gene DOID:2394 ovarian cancer disease_progression ISO RGD:69070 D RGD:9068941 20200609 RGD protein:altered localization, decreased expression:ovary PMID:12079303|REF_RGD_ID:2289405 11710701 CD82 CD82 molecule gene DOID:2671 transitional cell carcinoma ISO RGD:1604068 D RGD:9068941 20200609 RGD PMID:17393117|REF_RGD_ID:2289390 11710701 CD82 CD82 molecule gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:1604068 D RGD:9068941 20200609 RGD PMID:12684410|REF_RGD_ID:2289403 11710701 CD82 CD82 molecule gene DOID:3459 breast carcinoma ISO RGD:1604068 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:15958618|REF_RGD_ID:2289398 11710701 CD82 CD82 molecule gene DOID:3744 cervical squamous cell carcinoma ISO RGD:1604068 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix PMID:15642213|REF_RGD_ID:2289399 11710701 CD82 CD82 molecule gene DOID:630 genetic disease ISO RGD:1604068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11710701 CD82 CD82 molecule gene DOID:9000965 Neoplasm Metastasis ISO RGD:1604068 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20075392 11710701 CD82 CD82 molecule gene DOID:9000965 Neoplasm Metastasis ISO RGD:1604068 D RGD:9068941 20200609 RGD associated with Carcinoma, Infiltrating Duct;mRNA:decreased expression:brain PMID:15592684|REF_RGD_ID:2289400 11710701 CD82 CD82 molecule gene DOID:9000965 Neoplasm Metastasis ISO RGD:1604068 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;DNA:loss of heterozygosity PMID:9254900|REF_RGD_ID:2289425 11710701 CD82 CD82 molecule gene DOID:9000965 Neoplasm Metastasis ISO RGD:1604068 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;mRNA:decreased expression:bone PMID:12806379|REF_RGD_ID:2289402 11710701 CD82 CD82 molecule gene DOID:9000965 Neoplasm Metastasis ISO RGD:69070 D RGD:9068941 20200609 RGD associated with Carcinoma, Hepatocellular;mRNA:decreased expression PMID:11275982|REF_RGD_ID:2289407 11710701 CD82 CD82 molecule gene DOID:9000965 Neoplasm Metastasis ISO RGD:69070 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;mRNA:decreased expression PMID:9831222|REF_RGD_ID:68869 11710701 CD82 CD82 molecule gene DOID:9003281 Spontaneous Abortions ISO RGD:1604068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20075392 11710701 CD82 CD82 molecule gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1604068 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20075392 11710701 CD82 CD82 molecule gene DOID:9007402 Gliosis ISO RGD:69070 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:15277499|REF_RGD_ID:2289406 11710724 ATG7 autophagy related 7 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1558502 D RGD:9068941 20220825 MouseDO OMIM:614286 11710724 ATG7 autophagy related 7 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1312481 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: NAFLD1 PMID:35405176 11710724 ATG7 autophagy related 7 gene DOID:10763 hypertension ISO RGD:1304817 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:24119246|REF_RGD_ID:11557985 11710724 ATG7 autophagy related 7 gene DOID:1289 neurodegenerative disease ISO RGD:1304817 D RGD:9068941 20200609 RGD PMID:26208597|REF_RGD_ID:11557995 11710724 ATG7 autophagy related 7 gene DOID:14330 Parkinson's disease ISO RGD:1558502 D RGD:9068941 20220825 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 11710724 ATG7 autophagy related 7 gene DOID:2355 anemia ISO RGD:1312481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26568842 11710724 ATG7 autophagy related 7 gene DOID:3070 high grade glioma treatment ISO RGD:1304817 D RGD:9068941 20200609 RGD PMID:25542083|REF_RGD_ID:11557994 11710724 ATG7 autophagy related 7 gene DOID:5426 primary ovarian insufficiency ISO RGD:1312481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11710724 ATG7 autophagy related 7 gene DOID:5844 myocardial infarction ISO RGD:1304817 D RGD:9068941 20200609 RGD mRNA:increased expression:plantaris PMID:24427319|REF_RGD_ID:11557988 11710724 ATG7 autophagy related 7 gene DOID:607 paraplegia ISO RGD:1304817 D RGD:9068941 20200609 RGD PMID:23055316|REF_RGD_ID:11557990 11710724 ATG7 autophagy related 7 gene DOID:614 lymphopenia ISO RGD:1312481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26568842 11710724 ATG7 autophagy related 7 gene DOID:630 genetic disease ISO RGD:1312481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11710724 ATG7 autophagy related 7 gene DOID:684 hepatocellular carcinoma ISO RGD:1312481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29191453 11710724 ATG7 autophagy related 7 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1304817 D RGD:9068941 20200609 RGD protein:increased expression:axon PMID:25040536|REF_RGD_ID:11553820 11710724 ATG7 autophagy related 7 gene DOID:9001981 Weight Loss ISO RGD:1312481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26568842 11710724 ATG7 autophagy related 7 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1312481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28408137 11710724 ATG7 autophagy related 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11710724 ATG7 autophagy related 7 gene DOID:9005369 Hepatomegaly ISO RGD:1312481 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26483381 11710724 ATG7 autophagy related 7 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1558502 D RGD:9068941 20200609 RGD protein:decreased expression:myocardium PMID:24874076|REF_RGD_ID:11557993 11710724 ATG7 autophagy related 7 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:1304817 D RGD:9068941 20200609 RGD PMID:24993523|REF_RGD_ID:11557996 11710724 ATG7 autophagy related 7 gene DOID:9005749 Necrosis ISO RGD:1312481 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21081844 11710724 ATG7 autophagy related 7 gene DOID:9007874 Liver Failure ISO RGD:1312481 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26483381 11710724 ATG7 autophagy related 7 gene DOID:9008617 Lethargy ISO RGD:1312481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26568842 11710724 ATG7 autophagy related 7 gene DOID:9009088 Autosomal Recessive Spinocerebellar Ataxia 31 ISO RGD:1312481 D RGD:7240710 20210728 OMIM 11710724 ATG7 autophagy related 7 gene DOID:9009088 Autosomal Recessive Spinocerebellar Ataxia 31 ISO RGD:1312481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 31 PMID:34161705 11710724 ATG7 autophagy related 7 gene DOID:9074 systemic lupus erythematosus ISO RGD:1558502 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 11710761 ZNF830 zinc finger protein 830 gene DOID:0080600 COVID-19 ISO RGD:1605313 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11710761 ZNF830 zinc finger protein 830 gene DOID:630 genetic disease ISO RGD:1605313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11710761 ZNF830 zinc finger protein 830 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11710767 RPAP3 RNA polymerase II associated protein 3 gene DOID:630 genetic disease ISO RGD:1603005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11710788 DLGAP1 DLG associated protein 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:734098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11710788 DLGAP1 DLG associated protein 1 gene DOID:0110880 holoprosencephaly 4 ISO RGD:734098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 4 PMID:16199538|PMID:16962354|PMID:17001671|PMID:19431187|PMID:22125506|PMID:28492532 11710788 DLGAP1 DLG associated protein 1 gene DOID:1059 intellectual disability ISO RGD:734098 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11710788 DLGAP1 DLG associated protein 1 gene DOID:630 genetic disease ISO RGD:734098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12954649 11710788 DLGAP1 DLG associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 11710788 DLGAP1 DLG associated protein 1 gene DOID:9008582 Developmental Disease ISO RGD:734098 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11710827 MINPP1 multiple inositol-polyphosphate phosphatase 1 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:733356 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 11710827 MINPP1 multiple inositol-polyphosphate phosphatase 1 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:733356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 11710827 MINPP1 multiple inositol-polyphosphate phosphatase 1 gene DOID:0112333 pontocerebellar hypoplasia type 16 ISO RGD:733356 D RGD:7240710 20211006 OMIM 11710827 MINPP1 multiple inositol-polyphosphate phosphatase 1 gene DOID:0112333 pontocerebellar hypoplasia type 16 ISO RGD:733356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 16 PMID:25741868|PMID:33168985|PMID:33257696 11710827 MINPP1 multiple inositol-polyphosphate phosphatase 1 gene DOID:2891 thyroid adenoma ISO RGD:733356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid adenoma PMID:11297621 11710827 MINPP1 multiple inositol-polyphosphate phosphatase 1 gene DOID:37 skin disease ISO RGD:733356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11710827 MINPP1 multiple inositol-polyphosphate phosphatase 1 gene DOID:630 genetic disease ISO RGD:733356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11710827 MINPP1 multiple inositol-polyphosphate phosphatase 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:733356 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity PMID:11297621|REF_RGD_ID:737769 11710827 MINPP1 multiple inositol-polyphosphate phosphatase 1 gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:733356 D RGD:7240710 20180130 OMIM 11710827 MINPP1 multiple inositol-polyphosphate phosphatase 1 gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:733356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 PMID:11297621 11710827 MINPP1 multiple inositol-polyphosphate phosphatase 1 gene DOID:9007964 Arsenic Poisoning ISO RGD:733356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11710841 MED28 mediator complex subunit 28 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1354293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11710841 MED28 mediator complex subunit 28 gene DOID:630 genetic disease ISO RGD:1354293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11710841 MED28 mediator complex subunit 28 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1354293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21942447 11710841 MED28 mediator complex subunit 28 gene DOID:9008939 Breast Neoplasms ISO RGD:1354293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21942447 11710849 USH1C USH1 protein network component harmonin gene DOID:0050439 Usher syndrome ISO RGD:1604645 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:23380860|PMID:24033266|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27957503|PMID:28041643|PMID:28492532|PMID:30096381|PMID:30303587|PMID:30718709 11710849 USH1C USH1 protein network component harmonin gene DOID:0050439 Usher syndrome ISO RGD:1604645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16199547|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25468891|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29907799|PMID:30096381|PMID:30303587|PMID:30718709 11710849 USH1C USH1 protein network component harmonin gene DOID:0050439 Usher syndrome treatment ISO RGD:1604645 D RGD:9068941 20200609 RGD PMID:23380860|REF_RGD_ID:8695937 11710849 USH1C USH1 protein network component harmonin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1604645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12630964|PMID:12702164|PMID:17407589|PMID:20301442|PMID:21203349|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26969326|PMID:27460420|PMID:28041643|PMID:28492532|PMID:30303587|PMID:30718709 11710849 USH1C USH1 protein network component harmonin gene DOID:0110473 autosomal recessive nonsyndromic deafness 18A ISO RGD:1604645 D RGD:7240710 20180130 OMIM 11710849 USH1C USH1 protein network component harmonin gene DOID:0110473 autosomal recessive nonsyndromic deafness 18A ISO RGD:1604645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18A | ClinVar Annotator: match by term: Deafness, autosomal recessive 18A PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16679490|PMID:16963483|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:24416283|PMID:24875298|PMID:25333064|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27460420|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29625443|PMID:29739340|PMID:29907799|PMID:30096381|PMID:30303587|PMID:30718709|PMID:31858762|PMID:32747562|PMID:33724713 11710849 USH1C USH1 protein network component harmonin gene DOID:0110826 Usher syndrome type 1 ISO RGD:1604645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16199547|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:24498627|PMID:25356976|PMID:25468891|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29907799|PMID:30096381|PMID:30303587|PMID:30718709|PMID:33095980|PMID:9760205 11710849 USH1C USH1 protein network component harmonin gene DOID:0110826 Usher syndrome type 1 onset ISO RGD:1604645 D RGD:9068941 20200609 RGD DNA:deletion:exon:c.1220delG(human) PMID:23251578|REF_RGD_ID:8695919 11710849 USH1C USH1 protein network component harmonin gene DOID:0110827 Usher syndrome type 2 ISO RGD:1604645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2 PMID:10973247|PMID:16199547|PMID:17407589|PMID:20301442|PMID:21203349|PMID:25741868|PMID:27460420|PMID:28492532|PMID:30311386 11710849 USH1C USH1 protein network component harmonin gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:1604645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome 11710849 USH1C USH1 protein network component harmonin gene DOID:0110830 Usher syndrome type 1C ISO RGD:1604645 D RGD:7240710 20180130 OMIM 11710849 USH1C USH1 protein network component harmonin gene DOID:0110830 Usher syndrome type 1C ISO RGD:1604645 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1C PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16199547|PMID:16679490|PMID:16963483|PMID:17174357|PMID:17407589|PMID:17576681|PMID:18665195|PMID:19297620|PMID:20095043|PMID:20142502|PMID:20146813|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:22581970|PMID:23251578|PMID:23967202|PMID:24033266|PMID:24154662|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24875298|PMID:25262649|PMID:25333064|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25560255|PMID:25741868|PMID:25788563|PMID:26445815|PMID:26467025|PMID:26969326|PMID:27208204|PMID:27440999|PMID:27460420|PMID:27743452|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29625443|PMID:29739340|PMID:29907799|PMID:30096381|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30718709|PMID:31858762|PMID:32467589|PMID:9536098|PMID:9760205 11710849 USH1C USH1 protein network component harmonin gene DOID:0110830 Usher syndrome type 1C ISO RGD:1604645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1C PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16199547|PMID:16679490|PMID:16963483|PMID:17174357|PMID:17407589|PMID:17576681|PMID:18665195|PMID:19297620|PMID:20095043|PMID:20142502|PMID:20146813|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:22581970|PMID:23251578|PMID:23967202|PMID:24033266|PMID:24154662|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24875298|PMID:25262649|PMID:25333064|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25560255|PMID:25741868|PMID:25788563|PMID:26445815|PMID:26467025|PMID:26969326|PMID:27208204|PMID:27440999|PMID:27460420|PMID:27743452|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29490346|PMID:29625443|PMID:29739340|PMID:29907799|PMID:30096381|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30718709|PMID:31858762|PMID:32467589|PMID:33095980|PMID:33781268|PMID:9536098|PMID:9760205 11710849 USH1C USH1 protein network component harmonin gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1604645 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 11710849 USH1C USH1 protein network component harmonin gene DOID:10003 sensorineural hearing loss ISO RGD:1553848 D RGD:9068941 20200609 RGD PMID:20211154|REF_RGD_ID:8695932 11710849 USH1C USH1 protein network component harmonin gene DOID:10584 retinitis pigmentosa ISO RGD:1604645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12630964|PMID:12702164|PMID:17407589|PMID:20301442|PMID:21203349|PMID:21569298|PMID:22135276|PMID:23251578|PMID:24033266|PMID:25741868|PMID:26969326|PMID:28041643|PMID:28492532|PMID:29490346|PMID:30303587|PMID:30718709 11710849 USH1C USH1 protein network component harmonin gene DOID:1059 intellectual disability ISO RGD:1604645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11710849 USH1C USH1 protein network component harmonin gene DOID:630 genetic disease ISO RGD:1604645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10973247|PMID:11139240|PMID:16199547|PMID:17407589|PMID:20301442|PMID:21203349|PMID:22135276|PMID:24033266|PMID:24416283|PMID:24498627|PMID:25525159|PMID:25741868|PMID:27743452|PMID:28492532 11710849 USH1C USH1 protein network component harmonin gene DOID:8501 fundus dystrophy ISO RGD:1604645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12630964|PMID:12702164|PMID:17407589|PMID:20301442|PMID:21203349|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25741868|PMID:26969326|PMID:27208204|PMID:28041643|PMID:28492532|PMID:30303587|PMID:30718709 11710849 USH1C USH1 protein network component harmonin gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1604645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25560255|PMID:25741868|PMID:26969326|PMID:28041643|PMID:28492532|PMID:30096381|PMID:30303587|PMID:30718709 11710849 USH1C USH1 protein network component harmonin gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1604645 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25468891|PMID:25560255|PMID:25741868|PMID:26969326|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29907799|PMID:30096381|PMID:30303587|PMID:30718709 11710849 USH1C USH1 protein network component harmonin gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1604645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25468891|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29907799|PMID:30096381|PMID:30303587|PMID:30718709 11710849 USH1C USH1 protein network component harmonin gene DOID:9004538 Hearing Loss ISO RGD:1604645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:10973247|PMID:16199547|PMID:17407589|PMID:20301442|PMID:21203349|PMID:22135276|PMID:23967202|PMID:24033266|PMID:25741868|PMID:27460420|PMID:28492532|PMID:30311386 11710849 USH1C USH1 protein network component harmonin gene DOID:9005581 Autosomal Recessive Nonsyndromic Deafness 18 ISO RGD:1604645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 18 PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16679490|PMID:16963483|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:24416283|PMID:24875298|PMID:25333064|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27460420|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29625443|PMID:29739340|PMID:29907799|PMID:30096381|PMID:30303587|PMID:30718709|PMID:31858762|PMID:32747562|PMID:33724713 11710849 USH1C USH1 protein network component harmonin gene DOID:9849 Meniere's disease ISO RGD:1604645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:12136232|PMID:16963483|PMID:24033266|PMID:24875298|PMID:25741868|PMID:28492532|PMID:29739340 11710887 NCOA3 nuclear receptor coactivator 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1344181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:19461658|PMID:30311386|PMID:33326993|PMID:34652575 11710887 NCOA3 nuclear receptor coactivator 3 gene DOID:10283 prostate cancer ISO RGD:1344181 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate (human) PMID:20166126|REF_RGD_ID:5688351 11710887 NCOA3 nuclear receptor coactivator 3 gene DOID:1240 leukemia ISO RGD:1344181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19365708|PMID:19433130 11710887 NCOA3 nuclear receptor coactivator 3 gene DOID:1612 breast cancer ISO RGD:620109 D RGD:9068941 20200609 RGD PMID:20051871|REF_RGD_ID:5688283 11710887 NCOA3 nuclear receptor coactivator 3 gene DOID:1749 squamous cell carcinoma ISO RGD:1344181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20852035 11710887 NCOA3 nuclear receptor coactivator 3 gene DOID:2234 focal epilepsy ISO RGD:1344181 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11710887 NCOA3 nuclear receptor coactivator 3 gene DOID:299 adenocarcinoma ISO RGD:1344181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20852035 11710887 NCOA3 nuclear receptor coactivator 3 gene DOID:3069 malignant astrocytoma ISO RGD:1344181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24680642 11710887 NCOA3 nuclear receptor coactivator 3 gene DOID:3459 breast carcinoma severity ISO RGD:1344181 D RGD:9068941 20200609 RGD protein:increased expression:breast (human) PMID:12725419|REF_RGD_ID:2289908 11710887 NCOA3 nuclear receptor coactivator 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1344181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20852035 11710887 NCOA3 nuclear receptor coactivator 3 gene DOID:630 genetic disease ISO RGD:1344181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11710887 NCOA3 nuclear receptor coactivator 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11927493|PMID:12237244 11710887 NCOA3 nuclear receptor coactivator 3 gene DOID:9004389 Bone Neoplasms ISO RGD:1344181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24134957 11710887 NCOA3 nuclear receptor coactivator 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1344181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20332317 11710887 NCOA3 nuclear receptor coactivator 3 gene DOID:9970 obesity ISO RGD:1344181 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:C-terminus polyglutamine repeat, combination of long polyglutamine repeat in NCOA3 and homozygous A1/A1 Progesterone Receptor genotype associated with obesity in 301 postmenopausal women with breast cancer PMID:14557830|REF_RGD_ID:1642050 11710929 FAM114A2 family with sequence similarity 114 member A2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313342 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11710929 FAM114A2 family with sequence similarity 114 member A2 gene DOID:630 genetic disease ISO RGD:1313342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11710929 FAM114A2 family with sequence similarity 114 member A2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313342 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11710963 COP1 COP1 E3 ubiquitin ligase gene DOID:12849 autistic disorder ISO RGD:1346229 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19404257 11710963 COP1 COP1 E3 ubiquitin ligase gene DOID:1540 parathyroid carcinoma ISO RGD:1346229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11710963 COP1 COP1 E3 ubiquitin ligase gene DOID:3755 antithrombin III deficiency ISO RGD:1346229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 11710963 COP1 COP1 E3 ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1346229 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11710963 COP1 COP1 E3 ubiquitin ligase gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1346229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11710963 COP1 COP1 E3 ubiquitin ligase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11710987 GPS2 G protein pathway suppressor 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1317604 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11710987 GPS2 G protein pathway suppressor 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1317604 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11710987 GPS2 G protein pathway suppressor 2 gene DOID:1059 intellectual disability ISO RGD:1317604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11710987 GPS2 G protein pathway suppressor 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1317604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11710987 GPS2 G protein pathway suppressor 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1317604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11710987 GPS2 G protein pathway suppressor 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1317604 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11710987 GPS2 G protein pathway suppressor 2 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1317604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 11710987 GPS2 G protein pathway suppressor 2 gene DOID:630 genetic disease ISO RGD:1317604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711005 OTX2 orthodenticle homeobox 2 gene DOID:0050902 medulloblastoma ISO RGD:1313892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 11711005 OTX2 orthodenticle homeobox 2 gene DOID:0080636 syndromic microphthalmia ISO RGD:1313892 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Syndromic Microphthalmia, Dominant PMID:25741868|PMID:28492532 11711005 OTX2 orthodenticle homeobox 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1313892 D RGD:7240710 20180130 OMIM 11711005 OTX2 orthodenticle homeobox 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1313892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome | ClinVar Annotator: match by term: OTX2-Related Syndromic Microphthalmia | ClinVar Annotator: match by term: Syndromic microphthalmia type 5 PMID:15846561|PMID:16607563|PMID:17541950|PMID:18628516|PMID:18781617|PMID:19956411|PMID:19965921|PMID:20396904|PMID:20486942|PMID:22577225|PMID:22715480|PMID:24033328|PMID:24167467|PMID:24498598|PMID:25293953|PMID:25326635|PMID:25741868|PMID:27299576|PMID:28492532|PMID:28518168|PMID:30268123|PMID:32461654|PMID:32796691|PMID:33296094 11711005 OTX2 orthodenticle homeobox 2 gene DOID:10629 microphthalmia ISO RGD:1313892 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094 11711005 OTX2 orthodenticle homeobox 2 gene DOID:10907 microcephaly ISO RGD:1313892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:19965921|PMID:25741868|PMID:28492532 11711005 OTX2 orthodenticle homeobox 2 gene DOID:14791 Leber congenital amaurosis ISO RGD:1313892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868 11711005 OTX2 orthodenticle homeobox 2 gene DOID:630 genetic disease ISO RGD:1313892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15846561|PMID:16607563|PMID:28492532|PMID:28518168|PMID:32461654 11711005 OTX2 orthodenticle homeobox 2 gene DOID:8501 fundus dystrophy ISO RGD:1313892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17541950|PMID:28492532 11711005 OTX2 orthodenticle homeobox 2 gene DOID:9000066 Jaw Abnormalities ISO RGD:1313892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12183386 11711005 OTX2 orthodenticle homeobox 2 gene DOID:9002049 Anophthalmia ISO RGD:1313892 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Anophthalmia PMID:25741868|PMID:29178648 11711005 OTX2 orthodenticle homeobox 2 gene DOID:9002955 Nerve Degeneration ISO RGD:1313892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20573704 11711005 OTX2 orthodenticle homeobox 2 gene DOID:9005891 Combined Pituitary Hormone Deficiency, 6 ISO RGD:1313892 D RGD:7240710 20180130 OMIM 11711005 OTX2 orthodenticle homeobox 2 gene DOID:9005891 Combined Pituitary Hormone Deficiency, 6 ISO RGD:1313892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 6 PMID:17541950|PMID:18728160|PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094 11711005 OTX2 orthodenticle homeobox 2 gene DOID:9410 panhypopituitarism ISO RGD:1313892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11711033 PRNP prion protein gene DOID:0050433 fatal familial insomnia ISO RGD:737306 D RGD:7240710 20180130 OMIM 11711033 PRNP prion protein gene DOID:0050433 fatal familial insomnia ISO RGD:737306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fatal familial insomnia PMID:10079068|PMID:10090891|PMID:10360778|PMID:10437852|PMID:10526198|PMID:10581230|PMID:10588836|PMID:10665501|PMID:10889050|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11756597|PMID:11839833|PMID:11840201|PMID:12451207|PMID:12590162|PMID:12601712|PMID:12867116|PMID:12891686|PMID:1351274|PMID:1353341|PMID:1404799|PMID:1439789|PMID:14520676|PMID:14562104|PMID:1469441|PMID:14761942|PMID:14872044|PMID:14967768|PMID:14970845|PMID:15277640|PMID:15366237|PMID:15539564|PMID:15987701|PMID:16217673|PMID:16227536|PMID:16313190|PMID:16315279|PMID:16369046|PMID:16391566|PMID:16565881|PMID:1671440|PMID:1677164|PMID:1682813|PMID:1684089|PMID:1684755|PMID:1684758|PMID:16969862|PMID:17013786|PMID:17029785|PMID:17494694|PMID:1798423|PMID:18955686|PMID:19422533|PMID:19422537|PMID:19543376|PMID:19680558|PMID:19703264|PMID:1971924|PMID:1975028|PMID:19923577|PMID:20038778|PMID:20139714|PMID:20301407|PMID:20514992|PMID:20583301|PMID:20592908|PMID:20593190|PMID:21269331|PMID:21298055|PMID:21616973|PMID:21839748|PMID:21909425|PMID:21983261|PMID:22072968|PMID:22108575|PMID:22318125|PMID:2253724|PMID:22561193|PMID:22584955|PMID:22947063|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23296137|PMID:23320809|PMID:23527023|PMID:23555862|PMID:23723004|PMID:2378641|PMID:24583440|PMID:24838726|PMID:25064618|PMID:25279981|PMID:25482600|PMID:25522698|PMID:2572450|PMID:25741868|PMID:25818675|PMID:26000326|PMID:26268049|PMID:26488179|PMID:26578040|PMID:26791950|PMID:27341347|PMID:27350609|PMID:27803826|PMID:2783132|PMID:28492532|PMID:29092967|PMID:29382530|PMID:29887139|PMID:7902693|PMID:7908444|PMID:7916462|PMID:7936296|PMID:7999318|PMID:8105682|PMID:8137139|PMID:8461023|PMID:8618678|PMID:9270595|PMID:9279329|PMID:9531435|PMID:9643750|PMID:9748018|PMID:9751723|PMID:9786248|PMID:9789072|PMID:9813003 11711033 PRNP prion protein gene DOID:0090103 Huntington's disease-like 1 ISO RGD:737306 D RGD:7240710 20180130 OMIM 11711033 PRNP prion protein gene DOID:0090103 Huntington's disease-like 1 ISO RGD:737306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 | ClinVar Annotator: match by term: PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES PMID:10079068|PMID:10090891|PMID:10360778|PMID:10437852|PMID:10526198|PMID:10581230|PMID:10588836|PMID:10612329|PMID:10631141|PMID:10665501|PMID:10790216|PMID:10889050|PMID:10953203|PMID:10970892|PMID:10987652|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11568919|PMID:11709001|PMID:11749972|PMID:11756421|PMID:11756597|PMID:11839833|PMID:11840201|PMID:11967261|PMID:12172394|PMID:12372829|PMID:12420099|PMID:12451207|PMID:12590162|PMID:12601712|PMID:12690204|PMID:12813570|PMID:12815603|PMID:12867116|PMID:12891686|PMID:1351274|PMID:1353341|PMID:1357663|PMID:1363809|PMID:1363810|PMID:1404799|PMID:1439789|PMID:14520676|PMID:14562104|PMID:14610121|PMID:1469441|PMID:14761942|PMID:14872044|PMID:14967768|PMID:14970845|PMID:15277640|PMID:15366237|PMID:15539564|PMID:15557533|PMID:15739100|PMID:15753435|PMID:15776279|PMID:15967879|PMID:15987701|PMID:16025285|PMID:16187142|PMID:16217673|PMID:16227536|PMID:16313190|PMID:16314483|PMID:16315279|PMID:16369046|PMID:16380907|PMID:16391566|PMID:16533975|PMID:16565881|PMID:1671440|PMID:1672296|PMID:1674033|PMID:1677164|PMID:1682813|PMID:1684089|PMID:1684755|PMID:1684758|PMID:16939293|PMID:16969862|PMID:17013786|PMID:17029785|PMID:17494694|PMID:17666888|PMID:17851697|PMID:1798423|PMID:18425766|PMID:18455951|PMID:18478114|PMID:18955686|PMID:19422533|PMID:19422537|PMID:19543376|PMID:19680558|PMID:19696976|PMID:19703264|PMID:1971924|PMID:1975028|PMID:19923577|PMID:20038778|PMID:20139714|PMID:20301407|PMID:20514992|PMID:20541558|PMID:20583301|PMID:20592908|PMID:20593190|PMID:20697057|PMID:21107135|PMID:21269331|PMID:21298055|PMID:21416485|PMID:21552571|PMID:21616973|PMID:21791975|PMID:2180366|PMID:21839748|PMID:21904617|PMID:2190844|PMID:21909425|PMID:21983261|PMID:22072968|PMID:22097954|PMID:22108575|PMID:22318125|PMID:22488860|PMID:2253724|PMID:22561193|PMID:22584955|PMID:22717776|PMID:22947063|PMID:22965875|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23261545|PMID:23296137|PMID:23320809|PMID:23527023|PMID:23555862|PMID:23668481|PMID:23723004|PMID:2378641|PMID:23871665|PMID:2458274|PMID:24583440|PMID:24838726|PMID:24958194|PMID:25022973|PMID:25064618|PMID:25279981|PMID:25450391|PMID:25482600|PMID:25522698|PMID:2564168|PMID:2572450|PMID:25741868|PMID:25818675|PMID:25959220|PMID:26000326|PMID:26268049|PMID:26323476|PMID:26488179|PMID:26578040|PMID:26757195|PMID:26791950|PMID:27341347|PMID:27350609|PMID:27716661|PMID:27803826|PMID:2783132|PMID:2812321|PMID:28314738|PMID:28492532|PMID:29092967|PMID:29382530|PMID:29458424|PMID:29887139|PMID:34663460|PMID:7902693|PMID:7902971|PMID:7908444|PMID:7916462|PMID:7936296|PMID:7954833|PMID:7999318|PMID:8105682|PMID:8137139|PMID:8461023|PMID:8618678|PMID:8698234|PMID:8909447|PMID:8939199|PMID:9270595|PMID:9279329|PMID:9482303|PMID:9531435|PMID:9643750|PMID:9653185|PMID:9748018|PMID:9751723|PMID:9786248|PMID:9789072|PMID:9813003 11711033 PRNP prion protein gene DOID:10652 Alzheimer's disease ISO RGD:737306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early-onset, susceptibility to PMID:10437852|PMID:10581230|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11840201|PMID:12601712|PMID:12867116|PMID:12891686|PMID:1353341|PMID:14520676|PMID:14562104|PMID:14970845|PMID:15277640|PMID:15539564|PMID:15987701|PMID:16217673|PMID:16315279|PMID:16391566|PMID:16565881|PMID:1677164|PMID:1682813|PMID:1684089|PMID:16969862|PMID:18955686|PMID:1971924|PMID:19923577|PMID:2378641|PMID:25741868|PMID:2783132|PMID:28492532|PMID:7908444|PMID:8137139|PMID:9643750|PMID:9748018|PMID:9751723|PMID:9789072 11711033 PRNP prion protein gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:737306 D RGD:7240710 20180130 OMIM 11711033 PRNP prion protein gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:737306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Creutzfeldt-Jakob Disease, Familial | ClinVar Annotator: match by term: Protection against Creutzfeldt-Jakob disease PMID:10079068|PMID:10090891|PMID:10360778|PMID:10437852|PMID:10526198|PMID:10581230|PMID:10665501|PMID:10889050|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11756597|PMID:11839833|PMID:11840201|PMID:11967261|PMID:12172394|PMID:12451207|PMID:12601712|PMID:12815603|PMID:12867116|PMID:12891686|PMID:1351274|PMID:1353341|PMID:1404799|PMID:14520676|PMID:14562104|PMID:1469441|PMID:14761942|PMID:14872044|PMID:14967768|PMID:14970845|PMID:15277640|PMID:15366237|PMID:15539564|PMID:15557533|PMID:15739100|PMID:15753435|PMID:15967879|PMID:15987701|PMID:16187142|PMID:16217673|PMID:16315279|PMID:16369046|PMID:16380907|PMID:16391566|PMID:16533975|PMID:16565881|PMID:1672296|PMID:1674033|PMID:1677164|PMID:1682813|PMID:1684089|PMID:1684755|PMID:1684758|PMID:16969862|PMID:17029785|PMID:17494694|PMID:17666888|PMID:1798423|PMID:18955686|PMID:19422533|PMID:19422537|PMID:19696976|PMID:19703264|PMID:1971924|PMID:1975028|PMID:19923577|PMID:20139714|PMID:20301407|PMID:20514992|PMID:20541558|PMID:20583301|PMID:20592908|PMID:20593190|PMID:20697057|PMID:21269331|PMID:21298055|PMID:21552571|PMID:21791975|PMID:2180366|PMID:21839748|PMID:2190844|PMID:21909425|PMID:21983261|PMID:22072968|PMID:22097954|PMID:22108575|PMID:22318125|PMID:22488860|PMID:2253724|PMID:22561193|PMID:22584955|PMID:22947063|PMID:22965875|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23296137|PMID:23320809|PMID:23527023|PMID:23555862|PMID:23668481|PMID:23723004|PMID:2378641|PMID:2458274|PMID:24583440|PMID:24838726|PMID:25064618|PMID:25279981|PMID:25450391|PMID:25482600|PMID:25522698|PMID:2564168|PMID:2572450|PMID:25741868|PMID:25818675|PMID:25959220|PMID:26268049|PMID:26578040|PMID:26791950|PMID:27341347|PMID:27803826|PMID:2783132|PMID:28492532|PMID:29382530|PMID:29887139|PMID:7902693|PMID:7902971|PMID:7908444|PMID:7916462|PMID:7936296|PMID:7999318|PMID:8105682|PMID:8137139|PMID:8461023|PMID:8618678|PMID:8698234|PMID:8909447|PMID:9279329|PMID:9482303|PMID:9643750|PMID:9653185|PMID:9748018|PMID:9751723|PMID:9789072|PMID:9813003 11711033 PRNP prion protein gene DOID:2377 multiple sclerosis ISO RGD:737306 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 11711033 PRNP prion protein gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:737306 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11711033 PRNP prion protein gene DOID:4195 hyperglycemia ISO RGD:3410 D RGD:9068941 20200609 RGD PMID:17146448|REF_RGD_ID:1599950 11711033 PRNP prion protein gene DOID:4249 Gerstmann-Straussler-Scheinker syndrome ISO RGD:737306 D RGD:7240710 20180130 OMIM 11711033 PRNP prion protein gene DOID:4249 Gerstmann-Straussler-Scheinker syndrome ISO RGD:737306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED | ClinVar Annotator: match by term: Encephalopathy subacute spongiform Gerstmann-Straussler type | ClinVar Annotator: match by term: Gerstmann-Straussler-Scheinker syndrome PMID:10079068|PMID:10437852|PMID:10506086|PMID:10526198|PMID:10581230|PMID:10581485|PMID:10631141|PMID:10698707|PMID:10790216|PMID:10953183|PMID:10953203|PMID:10970892|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11568919|PMID:11704923|PMID:11709001|PMID:11749972|PMID:11756597|PMID:11840201|PMID:11967261|PMID:12172394|PMID:12372829|PMID:12451207|PMID:12590162|PMID:12601712|PMID:12867116|PMID:12891686|PMID:1353341|PMID:1357663|PMID:1363809|PMID:1363810|PMID:14520676|PMID:14562104|PMID:14761942|PMID:14872044|PMID:14970845|PMID:15277640|PMID:15539564|PMID:15824374|PMID:15967879|PMID:15987701|PMID:16025285|PMID:16217673|PMID:16315279|PMID:16369046|PMID:16380907|PMID:16391566|PMID:16565881|PMID:1672296|PMID:1674033|PMID:1677164|PMID:1682813|PMID:1684089|PMID:16939293|PMID:16969862|PMID:17029785|PMID:17353478|PMID:17494694|PMID:17666888|PMID:18955686|PMID:19225789|PMID:19422533|PMID:19422537|PMID:19675240|PMID:19680558|PMID:19696976|PMID:19703264|PMID:1971924|PMID:19911184|PMID:19923577|PMID:20301407|PMID:20541558|PMID:20583301|PMID:20592908|PMID:21269331|PMID:21416485|PMID:2180366|PMID:21839748|PMID:2190844|PMID:21909425|PMID:21983261|PMID:22097954|PMID:22108575|PMID:22561193|PMID:22947063|PMID:22965875|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23320809|PMID:23527023|PMID:23555862|PMID:23668481|PMID:2378641|PMID:24583440|PMID:24838726|PMID:24958194|PMID:25482600|PMID:2564168|PMID:2572450|PMID:25741868|PMID:25818675|PMID:25959220|PMID:26268049|PMID:26323476|PMID:26578040|PMID:26791950|PMID:27341347|PMID:27716661|PMID:2783132|PMID:2812321|PMID:28492532|PMID:29382530|PMID:29458424|PMID:29887139|PMID:7501157|PMID:7902693|PMID:7902971|PMID:7902972|PMID:7908444|PMID:7954833|PMID:8137139|PMID:8461023|PMID:8570627|PMID:8698234|PMID:8939199|PMID:9452375|PMID:9643750|PMID:9653185|PMID:9748018|PMID:9751723|PMID:9789072 11711033 PRNP prion protein gene DOID:5434 scrapie ISO RGD:737306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11701772|PMID:18717736|PMID:19486493|PMID:21533749 11711033 PRNP prion protein gene DOID:5434 scrapie onset ISO RGD:3410 D RGD:9068941 20200609 RGD PMID:29157304|REF_RGD_ID:15045596 11711033 PRNP prion protein gene DOID:630 genetic disease ISO RGD:737306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10506086|PMID:10698707|PMID:19675240|PMID:2783132|PMID:7501157|PMID:7902972|PMID:9452375 11711033 PRNP prion protein gene DOID:648 kuru ISO RGD:737306 D RGD:7240710 20230505 OMIM 11711033 PRNP prion protein gene DOID:648 kuru ISO RGD:737306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kuru, protection against | ClinVar Annotator: match by term: Kuru, susceptibility to PMID:10079068|PMID:10437852|PMID:10526198|PMID:10581230|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11756597|PMID:11840201|PMID:12451207|PMID:12601712|PMID:12867116|PMID:12891686|PMID:1353341|PMID:14520676|PMID:14562104|PMID:14761942|PMID:14872044|PMID:14970845|PMID:15277640|PMID:15539564|PMID:15987701|PMID:16217673|PMID:16315279|PMID:16369046|PMID:16391566|PMID:16565881|PMID:1677164|PMID:1682813|PMID:1684089|PMID:16969862|PMID:17029785|PMID:17494694|PMID:18955686|PMID:19422533|PMID:19422537|PMID:19703264|PMID:1971924|PMID:19923577|PMID:20301407|PMID:20583301|PMID:20592908|PMID:21269331|PMID:21839748|PMID:21909425|PMID:21983261|PMID:22108575|PMID:22561193|PMID:22947063|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23320809|PMID:23527023|PMID:23555862|PMID:2378641|PMID:24583440|PMID:24838726|PMID:25482600|PMID:25741868|PMID:25818675|PMID:26061765|PMID:26268049|PMID:26578040|PMID:26791950|PMID:27341347|PMID:2783132|PMID:28492532|PMID:29382530|PMID:29887139|PMID:7902693|PMID:7908444|PMID:8137139|PMID:8461023|PMID:9643750|PMID:9748018|PMID:9751723|PMID:9789072 11711033 PRNP prion protein gene DOID:649 prion disease ISO RGD:737306 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inherited prion disease | ClinVar Annotator: match by term: Prion disease, susceptibility to | ClinVar Annotator: match by term: Spongiform encephalopathy PMID:10079068|PMID:10437852|PMID:10526198|PMID:10581230|PMID:10612329|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11756597|PMID:11840201|PMID:11967261|PMID:12172394|PMID:12420099|PMID:12451207|PMID:12601712|PMID:12690204|PMID:12813570|PMID:12815603|PMID:12867116|PMID:12891686|PMID:1353341|PMID:14520676|PMID:14562104|PMID:14610121|PMID:14761942|PMID:14872044|PMID:14970845|PMID:15277640|PMID:15539564|PMID:15557533|PMID:15967879|PMID:15987701|PMID:16217673|PMID:16315279|PMID:16369046|PMID:16380907|PMID:16391566|PMID:16565881|PMID:1672296|PMID:1674033|PMID:1677164|PMID:1682813|PMID:1684089|PMID:16969862|PMID:17029785|PMID:17494694|PMID:17666888|PMID:18955686|PMID:19422533|PMID:19422537|PMID:19696976|PMID:19703264|PMID:1971924|PMID:19812771|PMID:19923577|PMID:20301407|PMID:20583301|PMID:20592908|PMID:20697057|PMID:21269331|PMID:2180366|PMID:21839748|PMID:2190844|PMID:21909425|PMID:21983261|PMID:22097954|PMID:22108575|PMID:22561193|PMID:22947063|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23320809|PMID:23527023|PMID:23555862|PMID:23668481|PMID:2378641|PMID:24583440|PMID:24838726|PMID:25022973|PMID:25482600|PMID:2564168|PMID:2572450|PMID:25741868|PMID:25818675|PMID:26268049|PMID:26578040|PMID:26757195|PMID:26791950|PMID:27341347|PMID:2783132|PMID:28492532|PMID:29382530|PMID:29887139|PMID:30606247|PMID:7902693|PMID:7902971|PMID:7908444|PMID:8137139|PMID:8461023|PMID:8698234|PMID:9482303|PMID:9643750|PMID:9653185|PMID:9748018|PMID:9751723|PMID:9789072 11711033 PRNP prion protein gene DOID:8725 vascular dementia ISO RGD:737306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 11711033 PRNP prion protein gene DOID:891 progressive myoclonus epilepsy ISO RGD:737306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 11711033 PRNP prion protein gene DOID:893 Wilson disease ISO RGD:737306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16831968 11711033 PRNP prion protein gene DOID:9000217 Stomach Neoplasms ISO RGD:737306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17387271 11711033 PRNP prion protein gene DOID:9000965 Neoplasm Metastasis ISO RGD:737306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17387271 11711033 PRNP prion protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11711033 PRNP prion protein gene DOID:9002170 Experimental Neoplasms ISO RGD:737306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21265952 11711033 PRNP prion protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:737306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 11711033 PRNP prion protein gene DOID:9005749 Necrosis ISO RGD:737306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18547651 11711033 PRNP prion protein gene DOID:9005780 Spongiform Encephalopathy with Neuropsychiatric Features ISO RGD:737306 D RGD:7240710 20180130 OMIM 11711033 PRNP prion protein gene DOID:9005780 Spongiform Encephalopathy with Neuropsychiatric Features ISO RGD:737306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spongiform encephalopathy with neuropsychiatric features PMID:10079068|PMID:10437852|PMID:10526198|PMID:10581230|PMID:10581485|PMID:10612329|PMID:10953183|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11756597|PMID:11840201|PMID:11967261|PMID:12172394|PMID:12451207|PMID:12601712|PMID:12813570|PMID:12867116|PMID:12891686|PMID:1353341|PMID:14520676|PMID:14562104|PMID:14610121|PMID:14761942|PMID:14872044|PMID:14970845|PMID:15277640|PMID:15539564|PMID:15824374|PMID:15967879|PMID:15987701|PMID:16217673|PMID:16315279|PMID:16369046|PMID:16380907|PMID:16391566|PMID:16565881|PMID:1672296|PMID:1674033|PMID:1677164|PMID:1682813|PMID:16831973|PMID:1684089|PMID:16969862|PMID:17029785|PMID:17494694|PMID:17666888|PMID:18955686|PMID:19422533|PMID:19422537|PMID:19696976|PMID:19703264|PMID:1971924|PMID:19923577|PMID:20301407|PMID:20583301|PMID:20592908|PMID:21269331|PMID:2180366|PMID:21839748|PMID:2190844|PMID:21909425|PMID:21983261|PMID:22097954|PMID:22108575|PMID:22561193|PMID:22947063|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23320809|PMID:23527023|PMID:23555862|PMID:23668481|PMID:2378641|PMID:24583440|PMID:24838726|PMID:25482600|PMID:2564168|PMID:2572450|PMID:25741868|PMID:25818675|PMID:26268049|PMID:26578040|PMID:26791950|PMID:27341347|PMID:2783132|PMID:28492532|PMID:29382530|PMID:29887139|PMID:7902693|PMID:7902971|PMID:7908444|PMID:8137139|PMID:8461023|PMID:8698234|PMID:9266722|PMID:9643750|PMID:9653185|PMID:9748018|PMID:9751723|PMID:9789072 11711033 PRNP prion protein gene DOID:9006061 Cerebral Amyloidosis with Spongiform Encephalopathy ISO RGD:737306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyloidosis cerebral with spongiform encephalopathy PMID:10079068|PMID:10437852|PMID:10526198|PMID:10581230|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11756597|PMID:11840201|PMID:11967261|PMID:12172394|PMID:12451207|PMID:12601712|PMID:12867116|PMID:12891686|PMID:1353341|PMID:14520676|PMID:14562104|PMID:14761942|PMID:14872044|PMID:14970845|PMID:15277640|PMID:15539564|PMID:15967879|PMID:15987701|PMID:16217673|PMID:16315279|PMID:16369046|PMID:16380907|PMID:16391566|PMID:16565881|PMID:1672296|PMID:1674033|PMID:1677164|PMID:1682813|PMID:1684089|PMID:16969862|PMID:17029785|PMID:17494694|PMID:17666888|PMID:18955686|PMID:19422533|PMID:19422537|PMID:19696976|PMID:19703264|PMID:1971924|PMID:19923577|PMID:20301407|PMID:20583301|PMID:20592908|PMID:21269331|PMID:2180366|PMID:21839748|PMID:2190844|PMID:21909425|PMID:21983261|PMID:22097954|PMID:22108575|PMID:22561193|PMID:22947063|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23320809|PMID:23527023|PMID:23555862|PMID:23668481|PMID:2378641|PMID:24583440|PMID:24838726|PMID:25482600|PMID:2564168|PMID:2572450|PMID:25741868|PMID:25818675|PMID:26268049|PMID:26578040|PMID:26791950|PMID:27341347|PMID:2783132|PMID:28492532|PMID:29382530|PMID:29887139|PMID:7902693|PMID:7902971|PMID:7908444|PMID:8137139|PMID:8461023|PMID:8698234|PMID:9643750|PMID:9653185|PMID:9748018|PMID:9751723|PMID:9789072 11711033 PRNP prion protein gene DOID:9008293 Primary Progressive Aphasia ISO RGD:737306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aphasia, primary progressive, susceptibility to PMID:10437852|PMID:10581230|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11840201|PMID:12601712|PMID:12867116|PMID:12891686|PMID:1353341|PMID:14520676|PMID:14562104|PMID:14970845|PMID:15277640|PMID:15539564|PMID:15987701|PMID:16217673|PMID:16315279|PMID:16391566|PMID:16565881|PMID:1677164|PMID:1682813|PMID:1684089|PMID:16969862|PMID:18955686|PMID:1971924|PMID:19923577|PMID:2378641|PMID:25741868|PMID:2783132|PMID:28492532|PMID:7908444|PMID:8137139|PMID:9643750|PMID:9748018|PMID:9751723|PMID:9789072 11711033 PRNP prion protein gene DOID:9008393 Spinocerebellar Ataxia and Plaque-Like Deposits ISO RGD:737306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia and plaque-like deposits PMID:10079068|PMID:10437852|PMID:10526198|PMID:10581230|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11756597|PMID:11840201|PMID:11967261|PMID:12172394|PMID:12451207|PMID:12601712|PMID:12867116|PMID:12891686|PMID:1353341|PMID:14520676|PMID:14562104|PMID:14761942|PMID:14872044|PMID:14970845|PMID:15277640|PMID:15539564|PMID:15967879|PMID:15987701|PMID:16217673|PMID:16315279|PMID:16369046|PMID:16380907|PMID:16391566|PMID:16565881|PMID:1672296|PMID:1674033|PMID:1677164|PMID:1682813|PMID:1684089|PMID:16969862|PMID:17029785|PMID:17494694|PMID:17666888|PMID:18955686|PMID:19422533|PMID:19422537|PMID:19696976|PMID:19703264|PMID:1971924|PMID:19923577|PMID:20301407|PMID:20583301|PMID:20592908|PMID:21269331|PMID:2180366|PMID:21839748|PMID:2190844|PMID:21909425|PMID:21983261|PMID:22097954|PMID:22108575|PMID:22561193|PMID:22947063|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23320809|PMID:23527023|PMID:23555862|PMID:23668481|PMID:2378641|PMID:24583440|PMID:24838726|PMID:25482600|PMID:2564168|PMID:2572450|PMID:25741868|PMID:25818675|PMID:26268049|PMID:26578040|PMID:26791950|PMID:27341347|PMID:2783132|PMID:28492532|PMID:29382530|PMID:29887139|PMID:7902693|PMID:7902971|PMID:7908444|PMID:8137139|PMID:8461023|PMID:8698234|PMID:9643750|PMID:9653185|PMID:9748018|PMID:9751723|PMID:9789072 11711038 LOC100985134 chromosome 9 C9orf106 homolog gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1349578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11711044 RP2 RP2 activator of ARL3 GTPase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11711044 RP2 RP2 activator of ARL3 GTPase gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1345059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11711044 RP2 RP2 activator of ARL3 GTPase gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1345059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 PMID:17576681|PMID:20625056|PMID:23150612|PMID:25741868|PMID:28492532|PMID:28714225|PMID:32244552|PMID:9536098 11711044 RP2 RP2 activator of ARL3 GTPase gene DOID:0110415 retinitis pigmentosa 2 ISO RGD:1345059 D RGD:7240710 20180130 OMIM 11711044 RP2 RP2 activator of ARL3 GTPase gene DOID:0110415 retinitis pigmentosa 2 ISO RGD:1345059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 2 PMID:10053026|PMID:10090907|PMID:10520237|PMID:10862093|PMID:10937588|PMID:10942419|PMID:11262649|PMID:11462235|PMID:11826029|PMID:11992260|PMID:12037013|PMID:12657579|PMID:15032968|PMID:16199547|PMID:16472755|PMID:17093403|PMID:17576681|PMID:17724181|PMID:18376416|PMID:20021257|PMID:20106869|PMID:20625056|PMID:20669900|PMID:20729296|PMID:21738648|PMID:22072390|PMID:22334370|PMID:23150612|PMID:24033266|PMID:24938718|PMID:24940031|PMID:25097241|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28209709|PMID:28492532|PMID:30576320|PMID:30718709|PMID:31456290|PMID:31736247|PMID:32244552|PMID:33546218|PMID:34008892|PMID:34906488|PMID:9536098|PMID:9697692 11711044 RP2 RP2 activator of ARL3 GTPase gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1345059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders PMID:14985377|PMID:21441247|PMID:28492532 11711044 RP2 RP2 activator of ARL3 GTPase gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1345059 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 11711044 RP2 RP2 activator of ARL3 GTPase gene DOID:10584 retinitis pigmentosa ISO RGD:1345059 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10053026|PMID:10090907|PMID:10862093|PMID:10937588|PMID:10942419|PMID:11262649|PMID:11992260|PMID:12657579|PMID:15032968|PMID:17724181|PMID:20021257|PMID:20625056|PMID:22334370|PMID:23150612|PMID:24033266|PMID:24938718|PMID:25097241|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28209709|PMID:28492532|PMID:29847639|PMID:30718709|PMID:31456290|PMID:9697692 11711044 RP2 RP2 activator of ARL3 GTPase gene DOID:10584 retinitis pigmentosa ISO RGD:1345059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10053026|PMID:10090907|PMID:10520237|PMID:10862093|PMID:10937588|PMID:10942419|PMID:11262649|PMID:11826029|PMID:11992260|PMID:12657579|PMID:15032968|PMID:17093403|PMID:17724181|PMID:20021257|PMID:20625056|PMID:22334370|PMID:23150612|PMID:24033266|PMID:24938718|PMID:25097241|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28209709|PMID:28492532|PMID:29847639|PMID:30718709|PMID:31456290|PMID:9697692 11711044 RP2 RP2 activator of ARL3 GTPase gene DOID:11612 polycystic ovary syndrome ISO RGD:1345059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11711044 RP2 RP2 activator of ARL3 GTPase gene DOID:12849 autistic disorder ISO RGD:1345059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11711044 RP2 RP2 activator of ARL3 GTPase gene DOID:14791 Leber congenital amaurosis ISO RGD:1345059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:17576681|PMID:28492532|PMID:28714225|PMID:9536098 11711044 RP2 RP2 activator of ARL3 GTPase gene DOID:630 genetic disease ISO RGD:1345059 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11711044 RP2 RP2 activator of ARL3 GTPase gene DOID:8501 fundus dystrophy ISO RGD:1345059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10053026|PMID:10090907|PMID:10520237|PMID:10937588|PMID:10942419|PMID:11262649|PMID:11826029|PMID:11992260|PMID:12657579|PMID:15032968|PMID:16199547|PMID:16472755|PMID:17093403|PMID:18376416|PMID:18552978|PMID:20021257|PMID:20625056|PMID:20669900|PMID:21738648|PMID:22072390|PMID:23150612|PMID:24940031|PMID:25097241|PMID:25133751|PMID:25356976|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28209709|PMID:28492532|PMID:30718709|PMID:31456290|PMID:32244552|PMID:32875684|PMID:9697692 11711044 RP2 RP2 activator of ARL3 GTPase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11711044 RP2 RP2 activator of ARL3 GTPase gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1345059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25972376 11711044 RP2 RP2 activator of ARL3 GTPase gene DOID:9008296 Eye Abnormalities ISO RGD:1345059 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:28041643 11711062 S100A1 S100 calcium binding protein A1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1349517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11711062 S100A1 S100 calcium binding protein A1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1349517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11711062 S100A1 S100 calcium binding protein A1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1349517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11711062 S100A1 S100 calcium binding protein A1 gene DOID:13100 intracranial vasospasm ISO RGD:1349517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12186470 11711062 S100A1 S100 calcium binding protein A1 gene DOID:1540 parathyroid carcinoma ISO RGD:1349517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11711062 S100A1 S100 calcium binding protein A1 gene DOID:5812 MHC class II deficiency ISO RGD:1349517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11711062 S100A1 S100 calcium binding protein A1 gene DOID:630 genetic disease ISO RGD:1349517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711062 S100A1 S100 calcium binding protein A1 gene DOID:9003936 Cardiomegaly ISO RGD:3614 D RGD:9068941 20200609 RGD PMID:12619862|REF_RGD_ID:735233 11711062 S100A1 S100 calcium binding protein A1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1349517 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:10924368|REF_RGD_ID:1579977 11711062 S100A1 S100 calcium binding protein A1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11711070 MUC1 mucin 1, cell surface associated gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:22963039|REF_RGD_ID:7244290 11711070 MUC1 mucin 1, cell surface associated gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:737252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11711070 MUC1 mucin 1, cell surface associated gene DOID:0050625 biliary tract benign neoplasm ISO RGD:737252 D RGD:9068941 20200609 RGD PMID:19129927|REF_RGD_ID:2317987 11711070 MUC1 mucin 1, cell surface associated gene DOID:0050848 obstructive sleep apnea ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19336590|REF_RGD_ID:5131166 11711070 MUC1 mucin 1, cell surface associated gene DOID:0060071 pre-malignant neoplasm ISO RGD:737252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28220687 11711070 MUC1 mucin 1, cell surface associated gene DOID:0080600 COVID-19 ISO RGD:737252 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 11711070 MUC1 mucin 1, cell surface associated gene DOID:0111940 immunodeficiency 42 ISO RGD:737252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11711070 MUC1 mucin 1, cell surface associated gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:737252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11711070 MUC1 mucin 1, cell surface associated gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:737252 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11711070 MUC1 mucin 1, cell surface associated gene DOID:10140 dry eye syndrome ISO RGD:737252 D RGD:9068941 20200609 RGD DNA:splice variant: :rs4072037 (human) PMID:18619437|REF_RGD_ID:7349376 11711070 MUC1 mucin 1, cell surface associated gene DOID:10140 dry eye syndrome ISO RGD:737252 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:conjuctival epithelial cell, tear PMID:22089171|REF_RGD_ID:7349375 11711070 MUC1 mucin 1, cell surface associated gene DOID:10283 prostate cancer severity ISO RGD:737252 D RGD:9068941 20200609 RGD PMID:16475027|REF_RGD_ID:7349340 11711070 MUC1 mucin 1, cell surface associated gene DOID:10754 otitis media ISO RGD:3122 D RGD:9068941 20200609 RGD associated with Pneumococcal Infections;mRNA:increased expression:middle ear PMID:11576628|REF_RGD_ID:2303743 11711070 MUC1 mucin 1, cell surface associated gene DOID:11054 urinary bladder cancer ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:10468735|REF_RGD_ID:7245967 11711070 MUC1 mucin 1, cell surface associated gene DOID:11204 allergic conjunctivitis severity ISO RGD:737252 D RGD:9068941 20200609 RGD PMID:17177679|REF_RGD_ID:7349351 11711070 MUC1 mucin 1, cell surface associated gene DOID:11339 pneumocystosis ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9617869|REF_RGD_ID:5131424 11711070 MUC1 mucin 1, cell surface associated gene DOID:11394 adult respiratory distress syndrome ISO RGD:737252 D RGD:9068941 20200609 RGD associated with critical illness; protein:increased expression:plasma PMID:16779848|REF_RGD_ID:5131171 11711070 MUC1 mucin 1, cell surface associated gene DOID:114 heart disease ISO RGD:737252 D RGD:9068941 20200609 RGD associated with Bronchiolitis, Viral; protein:increased expression:serum PMID:19856476|REF_RGD_ID:5131164 11711070 MUC1 mucin 1, cell surface associated gene DOID:11650 bronchopulmonary dysplasia severity ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:cord plasma PMID:18025794|REF_RGD_ID:5131170 11711070 MUC1 mucin 1, cell surface associated gene DOID:13406 pulmonary sarcoidosis ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14665489|REF_RGD_ID:5131177 11711070 MUC1 mucin 1, cell surface associated gene DOID:13891 bird fancier's lung ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15881280|REF_RGD_ID:5131172 11711070 MUC1 mucin 1, cell surface associated gene DOID:1485 cystic fibrosis ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19960788|REF_RGD_ID:5131272 11711070 MUC1 mucin 1, cell surface associated gene DOID:1540 parathyroid carcinoma ISO RGD:737252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11711070 MUC1 mucin 1, cell surface associated gene DOID:1612 breast cancer ISO RGD:737252 D RGD:9068941 20200609 RGD PMID:8869094|REF_RGD_ID:7349378 11711070 MUC1 mucin 1, cell surface associated gene DOID:1790 malignant mesothelioma ISO RGD:737252 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 11711070 MUC1 mucin 1, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:737252 D RGD:9068941 20200609 RGD PMID:18039393|PMID:18383873|PMID:18575732|PMID:19129927|REF_RGD_ID:2317987|REF_RGD_ID:2324635|REF_RGD_ID:2324637|REF_RGD_ID:2324639 11711070 MUC1 mucin 1, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased secretion:bile PMID:19055478|REF_RGD_ID:2324622 11711070 MUC1 mucin 1, cell surface associated gene DOID:1793 pancreatic cancer disease_progression ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:14654947|REF_RGD_ID:2317984 11711070 MUC1 mucin 1, cell surface associated gene DOID:2799 bronchiolitis obliterans ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16969297|REF_RGD_ID:5131273 11711070 MUC1 mucin 1, cell surface associated gene DOID:2841 asthma ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11802251|REF_RGD_ID:5131281 11711070 MUC1 mucin 1, cell surface associated gene DOID:3030 mucinous adenocarcinoma ISO RGD:737252 D RGD:9068941 20200609 RGD associated with Pancreatic Diseases PMID:20357691|REF_RGD_ID:2317980 11711070 MUC1 mucin 1, cell surface associated gene DOID:3082 interstitial lung disease ISO RGD:737252 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;protein:increased expression:serum PMID:19286849|REF_RGD_ID:4143496 11711070 MUC1 mucin 1, cell surface associated gene DOID:3082 interstitial lung disease ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15088311|REF_RGD_ID:5131176 11711070 MUC1 mucin 1, cell surface associated gene DOID:3082 interstitial lung disease severity ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15654008|REF_RGD_ID:5131173 11711070 MUC1 mucin 1, cell surface associated gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:sputum (human) PMID:21474912|REF_RGD_ID:5131160 11711070 MUC1 mucin 1, cell surface associated gene DOID:3458 breast adenocarcinoma ISO RGD:737252 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:breast PMID:7678777|REF_RGD_ID:2324855 11711070 MUC1 mucin 1, cell surface associated gene DOID:3587 pancreatic ductal carcinoma ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:pancreas PMID:14681945|REF_RGD_ID:2317983 11711070 MUC1 mucin 1, cell surface associated gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:737252 D RGD:9068941 20200609 RGD PMID:18713982|PMID:19109152|REF_RGD_ID:2324616|REF_RGD_ID:2324633 11711070 MUC1 mucin 1, cell surface associated gene DOID:3910 lung adenocarcinoma ISO RGD:737252 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:8694545|REF_RGD_ID:5131260 11711070 MUC1 mucin 1, cell surface associated gene DOID:418 systemic scleroderma ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19286849|REF_RGD_ID:4143496 11711070 MUC1 mucin 1, cell surface associated gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:737252 D RGD:9068941 20200609 RGD PMID:10390012|REF_RGD_ID:7245968 11711070 MUC1 mucin 1, cell surface associated gene DOID:4481 allergic rhinitis ISO RGD:3122 D RGD:9068941 20210709 RGD mRNA,protein:decreased expression:nasal mucosa PMID:31425778|REF_RGD_ID:127345100 11711070 MUC1 mucin 1, cell surface associated gene DOID:4481 allergic rhinitis ISO RGD:737252 D RGD:9068941 20210709 RGD mRNA,protein:decreased expression:nasal mucosa PMID:31425778|REF_RGD_ID:127345100 11711070 MUC1 mucin 1, cell surface associated gene DOID:4481 allergic rhinitis severity ISO RGD:3122 D RGD:9068941 20210716 RGD PMID:31425778|REF_RGD_ID:127345100 11711070 MUC1 mucin 1, cell surface associated gene DOID:4608 common bile duct neoplasm disease_progression ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:8766528|REF_RGD_ID:2324856 11711070 MUC1 mucin 1, cell surface associated gene DOID:4947 cholangiocarcinoma ISO RGD:3122 D RGD:9068941 20200609 RGD mRNA:increased expression:bile duct PMID:18081149|REF_RGD_ID:2324638 11711070 MUC1 mucin 1, cell surface associated gene DOID:4947 cholangiocarcinoma ISO RGD:3122 D RGD:9068941 20200609 RGD protein:increased expression:bile duct: PMID:15213623|REF_RGD_ID:2324667 11711070 MUC1 mucin 1, cell surface associated gene DOID:4947 cholangiocarcinoma ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19260467|REF_RGD_ID:2324664 11711070 MUC1 mucin 1, cell surface associated gene DOID:4947 cholangiocarcinoma ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased secretion:bile PMID:19055478|REF_RGD_ID:2324622 11711070 MUC1 mucin 1, cell surface associated gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:737252 D RGD:9068941 20200609 RGD PMID:19639217|REF_RGD_ID:2317986 11711070 MUC1 mucin 1, cell surface associated gene DOID:552 pneumonia ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11802251|REF_RGD_ID:5131281 11711070 MUC1 mucin 1, cell surface associated gene DOID:5812 MHC class II deficiency ISO RGD:737252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11711070 MUC1 mucin 1, cell surface associated gene DOID:630 genetic disease ISO RGD:737252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711070 MUC1 mucin 1, cell surface associated gene DOID:850 lung disease ISO RGD:737252 D RGD:9068941 20200609 RGD associated with arthritis, rheumatoid; protein:increased expression:serum PMID:15526815|REF_RGD_ID:5131175 11711070 MUC1 mucin 1, cell surface associated gene DOID:850 lung disease severity ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:10931429|REF_RGD_ID:5131182 11711070 MUC1 mucin 1, cell surface associated gene DOID:8622 measles severity ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11802251|REF_RGD_ID:5131281 11711070 MUC1 mucin 1, cell surface associated gene DOID:9000011 Gallbladder Neoplasms severity ISO RGD:737252 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:gallbladder PMID:10398137|REF_RGD_ID:2324857 11711070 MUC1 mucin 1, cell surface associated gene DOID:9000081 Lymphatic Metastasis ISO RGD:737252 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell; PMID:10390012|REF_RGD_ID:7245968 11711070 MUC1 mucin 1, cell surface associated gene DOID:9000081 Lymphatic Metastasis ISO RGD:737252 D RGD:9068941 20200609 RGD associated with Common Bile Duct Neoplasms PMID:16222735|REF_RGD_ID:2324649 11711070 MUC1 mucin 1, cell surface associated gene DOID:9000081 Lymphatic Metastasis ISO RGD:737252 D RGD:9068941 20200609 RGD associated with Esophageal Neoplasms PMID:21339746|REF_RGD_ID:7349383 11711070 MUC1 mucin 1, cell surface associated gene DOID:9000081 Lymphatic Metastasis ISO RGD:737252 D RGD:9068941 20200609 RGD associated with Gallbladder Neoplasms;protein:altered localization:gallbladder PMID:11295067|REF_RGD_ID:2324860 11711070 MUC1 mucin 1, cell surface associated gene DOID:9000217 Stomach Neoplasms ISO RGD:737252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098866 11711070 MUC1 mucin 1, cell surface associated gene DOID:9000965 Neoplasm Metastasis ISO RGD:737252 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:12941828|PMID:16707592|REF_RGD_ID:2324648|REF_RGD_ID:2324652 11711070 MUC1 mucin 1, cell surface associated gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:737252 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell; PMID:10390012|REF_RGD_ID:7245968 11711070 MUC1 mucin 1, cell surface associated gene DOID:9001834 Peritoneal Neoplasms ISO RGD:737252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 11711070 MUC1 mucin 1, cell surface associated gene DOID:9002159 Liver Reperfusion Injury ISO RGD:3122 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:bile duct PMID:21775928|REF_RGD_ID:7364757 11711070 MUC1 mucin 1, cell surface associated gene DOID:9002231 Fetal Growth Retardation ISO RGD:3122 D RGD:9068941 20200609 RGD PMID:19287349|REF_RGD_ID:7349369 11711070 MUC1 mucin 1, cell surface associated gene DOID:9002661 Diabetes Complications ISO RGD:3122 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23977093|REF_RGD_ID:7349380 11711070 MUC1 mucin 1, cell surface associated gene DOID:9002900 Autosomal Dominant Tubulointerstitial Kidney Disease 2 ISO RGD:737252 D RGD:7240710 20180130 OMIM 11711070 MUC1 mucin 1, cell surface associated gene DOID:9002900 Autosomal Dominant Tubulointerstitial Kidney Disease 2 ISO RGD:737252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tubulointerstitial kidney disease, autosomal dominant, 2 PMID:15384011|PMID:23396133|PMID:25741868|PMID:33532864 11711070 MUC1 mucin 1, cell surface associated gene DOID:9003566 Mesothelioma ISO RGD:737252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18454162 11711070 MUC1 mucin 1, cell surface associated gene DOID:9004009 Reperfusion Injury ISO RGD:3122 D RGD:9068941 20200609 RGD PMID:23977093|REF_RGD_ID:7349380 11711070 MUC1 mucin 1, cell surface associated gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:737252 D RGD:9068941 20200609 RGD PMID:23015160|REF_RGD_ID:7349374 11711070 MUC1 mucin 1, cell surface associated gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:3122 D RGD:9068941 20200609 RGD PMID:22019164|REF_RGD_ID:7245959 11711070 MUC1 mucin 1, cell surface associated gene DOID:9006404 Tubulointerstitial Nephritis and Uveitis ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:kidney tubule, serum: PMID:17162148|REF_RGD_ID:7246892 11711070 MUC1 mucin 1, cell surface associated gene DOID:9006532 Hematologic Neoplasms ISO RGD:737252 D RGD:9068941 20200609 RGD associated with Pneumonia, Pneumocystis; protein:increased expression:serum PMID:12186700|REF_RGD_ID:5131276 11711070 MUC1 mucin 1, cell surface associated gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19856476|REF_RGD_ID:5131164 11711070 MUC1 mucin 1, cell surface associated gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737252 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22457794 11711070 MUC1 mucin 1, cell surface associated gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11711070 MUC1 mucin 1, cell surface associated gene DOID:9423 blepharitis ISO RGD:10927 D RGD:9068941 20200609 RGD PMID:10359313|REF_RGD_ID:7349379 11711070 MUC1 mucin 1, cell surface associated gene DOID:9538 multiple myeloma ISO RGD:737252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9949172 11711070 MUC1 mucin 1, cell surface associated gene DOID:9700 bacterial conjunctivitis ISO RGD:10927 D RGD:9068941 20200609 RGD PMID:10359313|REF_RGD_ID:7349379 11711109 LOC100988353 septin-4 gene DOID:0050777 Joubert syndrome ISO RGD:1349607 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11711109 LOC100988353 septin-4 gene DOID:0111096 Fanconi anemia complementation group O ISO RGD:1349607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group O PMID:28492532 11711109 LOC100988353 septin-4 gene DOID:12217 Lewy body dementia ISO RGD:1349607 D RGD:9068941 20200611 RGD PMID:12695511|REF_RGD_ID:13504670 11711109 LOC100988353 septin-4 gene DOID:14330 Parkinson's disease ISO RGD:1349607 D RGD:9068941 20200611 RGD PMID:12695511|REF_RGD_ID:13504670 11711109 LOC100988353 septin-4 gene DOID:630 genetic disease ISO RGD:1349607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711152 TBCK TBC1 domain containing kinase gene DOID:1059 intellectual disability ISO RGD:1606987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11711152 TBCK TBC1 domain containing kinase gene DOID:630 genetic disease ISO RGD:1606987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27040691|PMID:27040692|PMID:28492532|PMID:29283439|PMID:30103036|PMID:30577886|PMID:31618753 11711152 TBCK TBC1 domain containing kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11711152 TBCK TBC1 domain containing kinase gene DOID:9006056 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 3 ISO RGD:1606987 D RGD:7240710 20190315 OMIM 11711152 TBCK TBC1 domain containing kinase gene DOID:9006056 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 3 ISO RGD:1606987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | ClinVar Annotator: match by term: Syndromic Infantile Encephalopathy PMID:16199547|PMID:17576681|PMID:23977024|PMID:25558065|PMID:25741868|PMID:27040691|PMID:27040692|PMID:27275012|PMID:28492532|PMID:29283439|PMID:30103036|PMID:30542205|PMID:30577886|PMID:31618753|PMID:32576985|PMID:32860008|PMID:34298581|PMID:9536098 11711152 TBCK TBC1 domain containing kinase gene DOID:9006534 Nervous System Malformations ISO RGD:1606987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16199547|PMID:25558065|PMID:25741868|PMID:27040691|PMID:27040692|PMID:28492532|PMID:30103036 11711152 TBCK TBC1 domain containing kinase gene DOID:9008086 Developmental Disabilities ISO RGD:1606987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16199547|PMID:25558065|PMID:25741868|PMID:27040691|PMID:27040692|PMID:28492532|PMID:30103036 11711185 LOC100991715 olfactory receptor 11A1 gene DOID:11372 megacolon ISO RGD:1346770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11711185 LOC100991715 olfactory receptor 11A1 gene DOID:630 genetic disease ISO RGD:1346770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711191 CHI3L1 chitinase 3 like 1 gene DOID:0050685 small cell carcinoma severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:15541818|REF_RGD_ID:4892640 11711191 CHI3L1 chitinase 3 like 1 gene DOID:0080199 colorectal carcinoma severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:12124825|REF_RGD_ID:4892637 11711191 CHI3L1 chitinase 3 like 1 gene DOID:0080600 COVID-19 ISO RGD:732419 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11711191 CHI3L1 chitinase 3 like 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:732419 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11711191 CHI3L1 chitinase 3 like 1 gene DOID:10286 prostate carcinoma severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:16372331|REF_RGD_ID:4892641 11711191 CHI3L1 chitinase 3 like 1 gene DOID:10591 pre-eclampsia ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:umbilical cord, serum (human) PMID:18054022|REF_RGD_ID:4892664 11711191 CHI3L1 chitinase 3 like 1 gene DOID:10763 hypertension ISO RGD:620874 D RGD:9068941 20200609 RGD mRNA:increased expression:brainstem, solitary tract nucleus (rat) PMID:18703386|REF_RGD_ID:4892597 11711191 CHI3L1 chitinase 3 like 1 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:732419 D RGD:9068941 20200609 RGD protein:decreased secretion:lung, secretion (human) PMID:20558631|REF_RGD_ID:4892651 11711191 CHI3L1 chitinase 3 like 1 gene DOID:13375 temporal arteritis ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:10616010|REF_RGD_ID:5024918 11711191 CHI3L1 chitinase 3 like 1 gene DOID:13406 pulmonary sarcoidosis ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:15763444|REF_RGD_ID:4892634 11711191 CHI3L1 chitinase 3 like 1 gene DOID:1380 endometrial cancer severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:17023034|REF_RGD_ID:4892642 11711191 CHI3L1 chitinase 3 like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:732419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11711191 CHI3L1 chitinase 3 like 1 gene DOID:1612 breast cancer severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:12889595|REF_RGD_ID:4892603 11711191 CHI3L1 chitinase 3 like 1 gene DOID:1909 melanoma severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:16456816|REF_RGD_ID:4892643 11711191 CHI3L1 chitinase 3 like 1 gene DOID:2349 arteriosclerosis ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased expression:artery, plaque, macrophage (human) PMID:10073974|REF_RGD_ID:4892604 11711191 CHI3L1 chitinase 3 like 1 gene DOID:2394 ovarian cancer severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:12883737|REF_RGD_ID:4892638 11711191 CHI3L1 chitinase 3 like 1 gene DOID:2841 asthma ISO RGD:732419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 7 PMID:18403759 11711191 CHI3L1 chitinase 3 like 1 gene DOID:2841 asthma susceptibility ISO RGD:732419 D RGD:7240710 20190502 OMIM 11711191 CHI3L1 chitinase 3 like 1 gene DOID:3068 glioblastoma ISO RGD:732419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21029458 11711191 CHI3L1 chitinase 3 like 1 gene DOID:3068 glioblastoma ISO RGD:732419 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, tumor (human) PMID:11161003|REF_RGD_ID:4892621 11711191 CHI3L1 chitinase 3 like 1 gene DOID:3070 high grade glioma ISO RGD:732419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20506295 11711191 CHI3L1 chitinase 3 like 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:20656949|REF_RGD_ID:4892658 11711191 CHI3L1 chitinase 3 like 1 gene DOID:3371 chondrosarcoma ISO RGD:732419 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor (human) PMID:12598313|REF_RGD_ID:4892624 11711191 CHI3L1 chitinase 3 like 1 gene DOID:3393 coronary artery disease ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:17627189|REF_RGD_ID:4892665 11711191 CHI3L1 chitinase 3 like 1 gene DOID:3770 pulmonary fibrosis severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum, lung (human) PMID:20888745|REF_RGD_ID:4892653 11711191 CHI3L1 chitinase 3 like 1 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:20564116|REF_RGD_ID:4892660 11711191 CHI3L1 chitinase 3 like 1 gene DOID:418 systemic scleroderma ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:16195162|REF_RGD_ID:4892666 11711191 CHI3L1 chitinase 3 like 1 gene DOID:5419 schizophrenia ISO RGD:732419 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 11711191 CHI3L1 chitinase 3 like 1 gene DOID:5419 schizophrenia susceptibility ISO RGD:732419 D RGD:7240710 20230505 OMIM 11711191 CHI3L1 chitinase 3 like 1 gene DOID:5844 myocardial infarction ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:18480670|REF_RGD_ID:4892633 11711191 CHI3L1 chitinase 3 like 1 gene DOID:6000 congestive heart failure ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:19961288|REF_RGD_ID:4892629 11711191 CHI3L1 chitinase 3 like 1 gene DOID:630 genetic disease ISO RGD:732419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711191 CHI3L1 chitinase 3 like 1 gene DOID:7148 rheumatoid arthritis severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:10461474|REF_RGD_ID:4892605 11711191 CHI3L1 chitinase 3 like 1 gene DOID:8398 osteoarthritis ISO RGD:732419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11711191 CHI3L1 chitinase 3 like 1 gene DOID:850 lung disease ISO RGD:1552317 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:20558631|REF_RGD_ID:4892651 11711191 CHI3L1 chitinase 3 like 1 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:10515841|REF_RGD_ID:4892626 11711191 CHI3L1 chitinase 3 like 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:732419 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11711191 CHI3L1 chitinase 3 like 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:732419 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor (human) PMID:11752453|REF_RGD_ID:4892620 11711191 CHI3L1 chitinase 3 like 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21029458 11711191 CHI3L1 chitinase 3 like 1 gene DOID:9119 acute myeloid leukemia severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:16361549|REF_RGD_ID:4892644 11711191 CHI3L1 chitinase 3 like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11711191 CHI3L1 chitinase 3 like 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:21143859|REF_RGD_ID:4892628 11711191 CHI3L1 chitinase 3 like 1 gene DOID:9470 bacterial meningitis severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:cerebrospinal fluid (human) PMID:11986266|REF_RGD_ID:4892662 11711191 CHI3L1 chitinase 3 like 1 gene DOID:9538 multiple myeloma severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:16930142|REF_RGD_ID:4892645 11711191 CHI3L1 chitinase 3 like 1 gene DOID:9675 pulmonary emphysema ISO RGD:1552317 D RGD:9068941 20200609 RGD PMID:20656949|REF_RGD_ID:4892658 11711191 CHI3L1 chitinase 3 like 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:18957531|REF_RGD_ID:4892627 11711212 EPX eosinophil peroxidase gene DOID:0050777 Joubert syndrome ISO RGD:1323569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11711212 EPX eosinophil peroxidase gene DOID:1059 intellectual disability ISO RGD:1323569 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11711212 EPX eosinophil peroxidase gene DOID:2841 asthma ISO RGD:1323569 D RGD:9068941 20200609 RGD protein:increased activity:sputum,nasal,pharyngeal mucosa PMID:26645423|REF_RGD_ID:11574908 11711212 EPX eosinophil peroxidase gene DOID:2841 asthma disease_progression ISO RGD:1323569 D RGD:9068941 20200609 RGD PMID:20813885|REF_RGD_ID:13506891 11711212 EPX eosinophil peroxidase gene DOID:2841 asthma severity ISO RGD:1323569 D RGD:9068941 20200609 RGD PMID:12199967|REF_RGD_ID:13506892 11711212 EPX eosinophil peroxidase gene DOID:630 genetic disease ISO RGD:1323569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711212 EPX eosinophil peroxidase gene DOID:9000406 Eosinophilic Asthma treatment ISO RGD:1323569 D RGD:9068941 20200609 RGD PMID:28751233|REF_RGD_ID:13506890 11711212 EPX eosinophil peroxidase gene DOID:9006769 Presentey Anomaly ISO RGD:1323569 D RGD:7240710 20180130 OMIM 11711212 EPX eosinophil peroxidase gene DOID:9006769 Presentey Anomaly ISO RGD:1323569 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Eosinophil peroxidase deficiency PMID:11241847|PMID:25741868|PMID:28492532|PMID:7809065 11711212 EPX eosinophil peroxidase gene DOID:9415 allergic asthma ISO RGD:1323569 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:11846868|REF_RGD_ID:13506893 11711238 KLK3 prostate-specific antigen gene DOID:10289 prostate malignant phyllodes tumor ISO RGD:1343198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22360509 11711238 KLK3 prostate-specific antigen gene DOID:11132 prostatic hypertrophy ISO RGD:1343198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21128595 11711238 KLK3 prostate-specific antigen gene DOID:1612 breast cancer ISO RGD:1343198 D RGD:9068941 20200609 RGD protein:increased expression:serum:in patients with breast cancer versus benign breast disease (p=0.025) PMID:10069662|REF_RGD_ID:2301715 11711238 KLK3 prostate-specific antigen gene DOID:630 genetic disease ISO RGD:1343198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711238 KLK3 prostate-specific antigen gene DOID:9000918 Disease Progression ISO RGD:1343198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12644816 11711238 KLK3 prostate-specific antigen gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12644816|PMID:15790600|PMID:16424004|PMID:16442593|PMID:16984552|PMID:17003774|PMID:17148459|PMID:18264097|PMID:18500220|PMID:18676866|PMID:27318894 11711238 KLK3 prostate-specific antigen gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1343198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16984552 11711288 AGO1 argonaute RISC component 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11711288 AGO1 argonaute RISC component 1 gene DOID:1059 intellectual disability ISO RGD:1312163 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25356899|PMID:25741868|PMID:27620904|PMID:28492532|PMID:30213762|PMID:34930816 11711288 AGO1 argonaute RISC component 1 gene DOID:1790 malignant mesothelioma ISO RGD:1312163 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 11711288 AGO1 argonaute RISC component 1 gene DOID:630 genetic disease ISO RGD:1312163 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711288 AGO1 argonaute RISC component 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312163 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:23020937|PMID:25741868|PMID:30213762|PMID:34930816 11711288 AGO1 argonaute RISC component 1 gene DOID:9006049 NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES ISO RGD:1312163 D RGD:7240710 20230505 OMIM 11711288 AGO1 argonaute RISC component 1 gene DOID:9006049 NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES ISO RGD:1312163 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures PMID:23020937|PMID:25356899|PMID:25741868|PMID:27620904|PMID:28492532|PMID:30213762|PMID:34930816 11711313 BCO2 beta-carotene oxygenase 2 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1319131 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 11711313 BCO2 beta-carotene oxygenase 2 gene DOID:1059 intellectual disability ISO RGD:1319131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11711313 BCO2 beta-carotene oxygenase 2 gene DOID:630 genetic disease ISO RGD:1319131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711313 BCO2 beta-carotene oxygenase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1319131 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11711313 BCO2 beta-carotene oxygenase 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1319131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11711313 BCO2 beta-carotene oxygenase 2 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1319131 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 11711339 NSL1 NSL1 component of MIS12 kinetochore complex gene DOID:1540 parathyroid carcinoma ISO RGD:1345295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11711339 NSL1 NSL1 component of MIS12 kinetochore complex gene DOID:630 genetic disease ISO RGD:1345295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711339 NSL1 NSL1 component of MIS12 kinetochore complex gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11711363 LOC100970649 olfactory receptor 10C1 gene DOID:11372 megacolon ISO RGD:1353336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11711363 LOC100970649 olfactory receptor 10C1 gene DOID:630 genetic disease ISO RGD:1353336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711368 CAMSAP1 calmodulin regulated spectrin associated protein 1 gene DOID:0050777 Joubert syndrome ISO RGD:1321992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11711368 CAMSAP1 calmodulin regulated spectrin associated protein 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1321992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:27891178|PMID:28492532|PMID:31209758 11711368 CAMSAP1 calmodulin regulated spectrin associated protein 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1321992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11711368 CAMSAP1 calmodulin regulated spectrin associated protein 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1321992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11711368 CAMSAP1 calmodulin regulated spectrin associated protein 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11711368 CAMSAP1 calmodulin regulated spectrin associated protein 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1321992 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11711368 CAMSAP1 calmodulin regulated spectrin associated protein 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1321992 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11711368 CAMSAP1 calmodulin regulated spectrin associated protein 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1321992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11711368 CAMSAP1 calmodulin regulated spectrin associated protein 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1321992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 11711368 CAMSAP1 calmodulin regulated spectrin associated protein 1 gene DOID:3652 Leigh disease ISO RGD:1321992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11711368 CAMSAP1 calmodulin regulated spectrin associated protein 1 gene DOID:630 genetic disease ISO RGD:1321992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711368 CAMSAP1 calmodulin regulated spectrin associated protein 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1321992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11711368 CAMSAP1 calmodulin regulated spectrin associated protein 1 gene DOID:9004966 Complex Cortical Dysplasia with Other Brain Malformations 12 ISO RGD:1321992 D RGD:7240710 20230505 OMIM 11711368 CAMSAP1 calmodulin regulated spectrin associated protein 1 gene DOID:9004966 Complex Cortical Dysplasia with Other Brain Malformations 12 ISO RGD:1321992 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 12 PMID:25741868|PMID:36283405 11711368 CAMSAP1 calmodulin regulated spectrin associated protein 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1321992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 11711389 LOC100971933 vomeronasal type-1 receptor 2 gene DOID:630 genetic disease ISO RGD:1353808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711396 RAB5A RAB5A, member RAS oncogene family gene DOID:0060417 3p deletion syndrome ISO RGD:1342715 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 11711396 RAB5A RAB5A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1342715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711396 RAB5A RAB5A, member RAS oncogene family gene DOID:9007102 Myocardial Ischemia ISO RGD:1342715 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11711406 PSME3 proteasome activator subunit 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1315927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11711424 AJAP1 adherens junctions associated protein 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603390 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11711424 AJAP1 adherens junctions associated protein 1 gene DOID:12712 nephronophthisis ISO RGD:1603390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 11711424 AJAP1 adherens junctions associated protein 1 gene DOID:630 genetic disease ISO RGD:1603390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711424 AJAP1 adherens junctions associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11711437 MYOCD myocardin gene DOID:0060224 atrial fibrillation ISO RGD:1344327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11711437 MYOCD myocardin gene DOID:0060889 prune belly syndrome ISO RGD:1344327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prune belly syndrome PMID:31513549 11711437 MYOCD myocardin gene DOID:0112014 congenital megabladder ISO RGD:1344327 D RGD:7240710 20200101 OMIM 11711437 MYOCD myocardin gene DOID:0112014 congenital megabladder ISO RGD:1344327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megabladder, congenital PMID:25741868|PMID:31513549 11711437 MYOCD myocardin gene DOID:10283 prostate cancer ISO RGD:1344327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11711437 MYOCD myocardin gene DOID:12930 dilated cardiomyopathy ISO RGD:1614957 D RGD:9068941 20220825 MouseDO 11711437 MYOCD myocardin gene DOID:13832 patent ductus arteriosus ISO RGD:1614957 D RGD:9068941 20220825 MouseDO OMIM:607411 11711437 MYOCD myocardin gene DOID:1826 epilepsy ISO RGD:1344327 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25558065 11711437 MYOCD myocardin gene DOID:630 genetic disease ISO RGD:1344327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11711437 MYOCD myocardin gene DOID:9003936 Cardiomegaly ISO RGD:1344327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16556869 11711456 DARS2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:0050753 cerebellar ataxia ISO RGD:1605663 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dysmetria PMID:16199547|PMID:17384640|PMID:19592391|PMID:22843165|PMID:23065766|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25741868|PMID:28492532|PMID:33977142|PMID:35379322 11711456 DARS2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:0050952 spastic ataxia ISO RGD:1605663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 11711456 DARS2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:10763 hypertension ISO RGD:1605663 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hypertension PMID:16199547|PMID:17384640|PMID:19592391|PMID:22843165|PMID:23065766|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25741868|PMID:28492532|PMID:33977142|PMID:35379322 11711456 DARS2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:11836 clubfoot ISO RGD:1605663 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital Talipes Equinovarus PMID:16199547|PMID:17384640|PMID:19592391|PMID:22843165|PMID:23065766|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25741868|PMID:28492532|PMID:33977142|PMID:35379322 11711456 DARS2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:13189 gout ISO RGD:1605663 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Gout PMID:16199547|PMID:17384640|PMID:19592391|PMID:22843165|PMID:23065766|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25741868|PMID:28492532|PMID:33977142|PMID:35379322 11711456 DARS2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:1540 parathyroid carcinoma ISO RGD:1605663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11711456 DARS2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:3755 antithrombin III deficiency ISO RGD:1605663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 11711456 DARS2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1605663 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17384640|PMID:19592391|PMID:22843165|PMID:23065766|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25741868|PMID:26327357|PMID:28492532|PMID:33977142|PMID:35379322 11711456 DARS2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1605663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 11711456 DARS2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:9002563 Gait Ataxia ISO RGD:1605663 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Gait ataxia PMID:16199547|PMID:17384640|PMID:19592391|PMID:22843165|PMID:23065766|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25741868|PMID:28492532|PMID:33977142|PMID:35379322 11711456 DARS2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:9007114 Mobility Limitation ISO RGD:1605663 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Difficulty walking PMID:16199547|PMID:17384640|PMID:19592391|PMID:22843165|PMID:23065766|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25741868|PMID:28492532|PMID:33977142|PMID:35379322 11711456 DARS2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1605663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 11711456 DARS2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:9007747 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation ISO RGD:1605663 D RGD:7240710 20180130 OMIM 11711456 DARS2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:9007747 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation ISO RGD:1605663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation PMID:16199547|PMID:17384640|PMID:19592391|PMID:21493805|PMID:21749991|PMID:21815884|PMID:22843165|PMID:23065766|PMID:23216004|PMID:23652419|PMID:24005482|PMID:24030952|PMID:24407472|PMID:24566671|PMID:25741868|PMID:26327357|PMID:26620921|PMID:28017220|PMID:28492532|PMID:30006346|PMID:30352563|PMID:32571458|PMID:33977142|PMID:35379322 11711456 DARS2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11711456 DARS2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:9277 primary cerebellar degeneration ISO RGD:1605663 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Sensorimotor neuropathy PMID:16199547|PMID:17384640|PMID:19592391|PMID:22843165|PMID:23065766|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25741868|PMID:28492532|PMID:33977142|PMID:35379322 11711479 ARG2 arginase 2 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:732329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 11711479 ARG2 arginase 2 gene DOID:10763 hypertension ISO RGD:2151 D RGD:9068941 20200609 RGD PMID:18475148|REF_RGD_ID:4142834 11711479 ARG2 arginase 2 gene DOID:10763 hypertension ISO RGD:2151 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta (rat) PMID:17223136|REF_RGD_ID:1626296 11711479 ARG2 arginase 2 gene DOID:10763 hypertension ISO RGD:2151 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:20039818|REF_RGD_ID:4143278 11711479 ARG2 arginase 2 gene DOID:2841 asthma ISO RGD:732329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19281908 11711479 ARG2 arginase 2 gene DOID:2841 asthma ISO RGD:736823 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:12813022|REF_RGD_ID:4143187 11711479 ARG2 arginase 2 gene DOID:2841 asthma severity ISO RGD:732329 D RGD:9068941 20200609 RGD DNA:SNP: :rs3742879, rs17249437 (human) PMID:20124949|REF_RGD_ID:5129205 11711479 ARG2 arginase 2 gene DOID:2841 asthma susceptibility ISO RGD:732329 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:16387594|REF_RGD_ID:5129207 11711479 ARG2 arginase 2 gene DOID:3021 acute kidney failure ISO RGD:2151 D RGD:9068941 20200609 RGD mRNA:decreased expression:renal tubule (rat) PMID:12371970|REF_RGD_ID:631989 11711479 ARG2 arginase 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:732329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23424623 11711479 ARG2 arginase 2 gene DOID:5199 ureteral obstruction ISO RGD:2151 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney, glomerulus (rat) PMID:18552509|REF_RGD_ID:4143282 11711479 ARG2 arginase 2 gene DOID:6000 congestive heart failure ISO RGD:732329 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 11711479 ARG2 arginase 2 gene DOID:630 genetic disease ISO RGD:732329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711479 ARG2 arginase 2 gene DOID:6432 pulmonary hypertension ISO RGD:732329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24951775 11711479 ARG2 arginase 2 gene DOID:783 end stage renal disease ISO RGD:2151 D RGD:9068941 20200609 RGD protein:decreased activity:kidney (rat) PMID:16809898|REF_RGD_ID:4110828 11711479 ARG2 arginase 2 gene DOID:8466 retinal degeneration ISO RGD:732329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30618589 11711479 ARG2 arginase 2 gene DOID:9000918 Disease Progression ISO RGD:732329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23424623 11711479 ARG2 arginase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2151 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:11931836|REF_RGD_ID:1626298 11711479 ARG2 arginase 2 gene DOID:9001708 Hemorrhagic Shock ISO RGD:2151 D RGD:9068941 20200609 RGD protein:increased expression:aorta (rat) PMID:20699748|REF_RGD_ID:4143274 11711479 ARG2 arginase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736823 D RGD:9068941 20200609 RGD PMID:21926276|REF_RGD_ID:6902923 11711479 ARG2 arginase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23424623 11711479 ARG2 arginase 2 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:732329 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:16387594|REF_RGD_ID:5129207 11711479 ARG2 arginase 2 gene DOID:9002955 Nerve Degeneration ISO RGD:732329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30618589 11711479 ARG2 arginase 2 gene DOID:9004484 Sepsis ISO RGD:2151 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:9635249|REF_RGD_ID:1626297 11711479 ARG2 arginase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2151 D RGD:9068941 20200609 RGD protein:increased activity:kidney (rat) PMID:12841630|REF_RGD_ID:4143269 11711479 ARG2 arginase 2 gene DOID:9005749 Necrosis ISO RGD:732329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23424623 11711479 ARG2 arginase 2 gene DOID:9007480 Hyperoxia ISO RGD:2151 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:9688940|REF_RGD_ID:4144054 11711479 ARG2 arginase 2 gene DOID:9008091 Optic Nerve Injuries ISO RGD:732329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30618589 11711491 RSBN1 round spermatid basic protein 1 gene DOID:0080690 RASopathy ISO RGD:1347428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11711491 RSBN1 round spermatid basic protein 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1347428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 11711491 RSBN1 round spermatid basic protein 1 gene DOID:630 genetic disease ISO RGD:1347428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711502 LOC100976701 lysozyme-like protein 1 gene DOID:630 genetic disease ISO RGD:1350038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711514 AP1G2 adaptor related protein complex 1 subunit gamma 2 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1313902 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11711514 AP1G2 adaptor related protein complex 1 subunit gamma 2 gene DOID:630 genetic disease ISO RGD:1313902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711514 AP1G2 adaptor related protein complex 1 subunit gamma 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1313902 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11711514 AP1G2 adaptor related protein complex 1 subunit gamma 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1313902 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11711514 AP1G2 adaptor related protein complex 1 subunit gamma 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1313902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11711514 AP1G2 adaptor related protein complex 1 subunit gamma 2 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1313902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 11711600 ZNF276 zinc finger protein 276 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1316682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 11711600 ZNF276 zinc finger protein 276 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1316682 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11711600 ZNF276 zinc finger protein 276 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1316682 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:09399890|PMID:09721219|PMID:10090479|PMID:10094191|PMID:10521298|PMID:11091222|PMID:12444097|PMID:12955722|PMID:15059067|PMID:15522956|PMID:15523645|PMID:15643609|PMID:16084127|PMID:16199547|PMID:17327415|PMID:17576681|PMID:17924555|PMID:18414213|PMID:19109555|PMID:19139070|PMID:19278965|PMID:19367192|PMID:21273304|PMID:21659346|PMID:22178060|PMID:22778927|PMID:23021409|PMID:23613520|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24584348|PMID:24728327|PMID:24793135|PMID:25168418|PMID:25741868|PMID:26296701|PMID:26467025|PMID:26580448|PMID:26689913|PMID:27041517|PMID:28060124|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28873162|PMID:29098742|PMID:29904161|PMID:30032139|PMID:30792206|PMID:30919572|PMID:31248416|PMID:31586946|PMID:32546565|PMID:33172906|PMID:33686268|PMID:33718801|PMID:34512202|PMID:9371798|PMID:9399890|PMID:9536098 11711600 ZNF276 zinc finger protein 276 gene DOID:10907 microcephaly ISO RGD:1316682 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:26689913|PMID:28202063|PMID:28492532|PMID:30032139 11711600 ZNF276 zinc finger protein 276 gene DOID:13636 Fanconi anemia ISO RGD:1316682 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:10090479|PMID:10094191|PMID:10521298|PMID:11091222|PMID:12444097|PMID:15059067|PMID:15523645|PMID:15643609|PMID:16084127|PMID:16199547|PMID:17576681|PMID:17924555|PMID:18414213|PMID:19278965|PMID:19367192|PMID:21273304|PMID:21659346|PMID:22178060|PMID:22778927|PMID:23021409|PMID:23613520|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24584348|PMID:24728327|PMID:24793135|PMID:25741868|PMID:26296701|PMID:26467025|PMID:26580448|PMID:26689913|PMID:27041517|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28623394|PMID:28717661|PMID:28767289|PMID:29098742|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30792206|PMID:30919572|PMID:31586946|PMID:32546565|PMID:33172906|PMID:33686268|PMID:33718801|PMID:34512202|PMID:9371798|PMID:9536098|PMID:9721219 11711600 ZNF276 zinc finger protein 276 gene DOID:13636 Fanconi anemia ISO RGD:1316682 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:10090479|PMID:10094191|PMID:10521298|PMID:11091222|PMID:12444097|PMID:12697994|PMID:15059067|PMID:15523645|PMID:15643609|PMID:16084127|PMID:16199547|PMID:17327415|PMID:17576681|PMID:17924555|PMID:18414213|PMID:19278965|PMID:19367192|PMID:21273304|PMID:21659346|PMID:22178060|PMID:22778927|PMID:23021409|PMID:23613520|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24584348|PMID:24728327|PMID:24793135|PMID:25640679|PMID:25741868|PMID:26296701|PMID:26467025|PMID:26580448|PMID:26689913|PMID:27041517|PMID:28060124|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28623394|PMID:28717661|PMID:28767289|PMID:29098742|PMID:29779353|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30792206|PMID:30919572|PMID:31248416|PMID:31586946|PMID:32546565|PMID:33172906|PMID:33686268|PMID:33718801|PMID:34512202|PMID:9371798|PMID:9536098|PMID:9721219 11711600 ZNF276 zinc finger protein 276 gene DOID:14780 KBG syndrome ISO RGD:1316682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 11711600 ZNF276 zinc finger protein 276 gene DOID:2394 ovarian cancer ISO RGD:1316682 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:26467025|PMID:28202063|PMID:28492532|PMID:30032139|PMID:9371798 11711600 ZNF276 zinc finger protein 276 gene DOID:630 genetic disease ISO RGD:1316682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 11711600 ZNF276 zinc finger protein 276 gene DOID:769 neuroblastoma ISO RGD:1316682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:15059067|PMID:17576681|PMID:24584348|PMID:27041517|PMID:28060124|PMID:28492532|PMID:29098742|PMID:9536098 11711622 BTBD8 BTB domain containing 8 gene DOID:630 genetic disease ISO RGD:1347221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711647 BCAR1 BCAR1 scaffold protein, Cas family member gene DOID:1612 breast cancer severity ISO RGD:734116 D RGD:9068941 20200609 RGD protein:increased expression:breast, cytosol (human) PMID:15448007|REF_RGD_ID:8547748 11711647 BCAR1 BCAR1 scaffold protein, Cas family member gene DOID:1793 pancreatic cancer ISO RGD:734116 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098869 11711647 BCAR1 BCAR1 scaffold protein, Cas family member gene DOID:2565 macular corneal dystrophy ISO RGD:734116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 11711647 BCAR1 BCAR1 scaffold protein, Cas family member gene DOID:3007 breast ductal carcinoma ISO RGD:734116 D RGD:9068941 20200609 RGD PMID:11605729|REF_RGD_ID:1579979 11711647 BCAR1 BCAR1 scaffold protein, Cas family member gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:734116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11711647 BCAR1 BCAR1 scaffold protein, Cas family member gene DOID:607 paraplegia ISO RGD:734116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11711647 BCAR1 BCAR1 scaffold protein, Cas family member gene DOID:630 genetic disease ISO RGD:734116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711647 BCAR1 BCAR1 scaffold protein, Cas family member gene DOID:9002304 Prostatic Neoplasms ISO RGD:734116 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29295717 11711647 BCAR1 BCAR1 scaffold protein, Cas family member gene DOID:9004575 Neoplasm Invasiveness ISO RGD:734116 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21291860 11711647 BCAR1 BCAR1 scaffold protein, Cas family member gene DOID:9008138 Ductal Carcinoma ISO RGD:734116 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29295717 11711679 PANK2 pantothenate kinase 2 gene DOID:0050572 cone-rod dystrophy ISO RGD:1313038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:11479594|PMID:12510040|PMID:16023068|PMID:28492532 11711679 PANK2 pantothenate kinase 2 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1313038 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11711679 PANK2 pantothenate kinase 2 gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1313038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 1, atypical PMID:11479594|PMID:12510040|PMID:15565311|PMID:15659606|PMID:15834858|PMID:16023068|PMID:16272150|PMID:16437574|PMID:16450344|PMID:22221393|PMID:22416811|PMID:23166001|PMID:23968566|PMID:24075960|PMID:24215330|PMID:24348190|PMID:25741868|PMID:25802776|PMID:26087139|PMID:26547561|PMID:26795593|PMID:27185474|PMID:28492532|PMID:28708303|PMID:28781879|PMID:29590070 11711679 PANK2 pantothenate kinase 2 gene DOID:10584 retinitis pigmentosa ISO RGD:1313038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11479594|PMID:12510040|PMID:15659606|PMID:15834858|PMID:16272150|PMID:16450344|PMID:22221393|PMID:22416811|PMID:23968566|PMID:24075960|PMID:24215330|PMID:24348190|PMID:25741868|PMID:26497376|PMID:26795593|PMID:28492532|PMID:28708303|PMID:29590070 11711679 PANK2 pantothenate kinase 2 gene DOID:1289 neurodegenerative disease ISO RGD:1313038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder PMID:25741868 11711679 PANK2 pantothenate kinase 2 gene DOID:14791 Leber congenital amaurosis ISO RGD:1313038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:12510040|PMID:16437574|PMID:28492532 11711679 PANK2 pantothenate kinase 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1313038 D RGD:7240710 20180130 OMIM 11711679 PANK2 pantothenate kinase 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1313038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:11479594|PMID:12058097|PMID:12510040|PMID:1301187|PMID:14638969|PMID:15465096|PMID:15565311|PMID:15659606|PMID:15747360|PMID:15834858|PMID:15843062|PMID:15911822|PMID:16023068|PMID:16157712|PMID:16199547|PMID:16240131|PMID:16272150|PMID:16437574|PMID:16450344|PMID:1734303|PMID:17576681|PMID:17903678|PMID:18006953|PMID:19224615|PMID:20076801|PMID:20193558|PMID:20497339|PMID:20551478|PMID:20603201|PMID:20629144|PMID:21198414|PMID:21459825|PMID:21480873|PMID:21877312|PMID:22103354|PMID:22127788|PMID:22221393|PMID:22416811|PMID:22547525|PMID:22682757|PMID:23166001|PMID:23634310|PMID:23757202|PMID:23968566|PMID:24033266|PMID:24075960|PMID:24209433|PMID:24215330|PMID:24348190|PMID:24689511|PMID:24712887|PMID:24868354|PMID:25268133|PMID:25741868|PMID:25802776|PMID:25915509|PMID:26087139|PMID:26467025|PMID:26547561|PMID:26795593|PMID:26828213|PMID:27185474|PMID:27815806|PMID:28094106|PMID:28113101|PMID:28357202|PMID:28492532|PMID:28680084|PMID:28708303|PMID:28781879|PMID:28821231|PMID:28845923|PMID:28863176|PMID:28881514|PMID:29590070|PMID:29801903|PMID:30363610|PMID:30681573|PMID:31088771|PMID:31540697|PMID:32043823|PMID:32310012|PMID:32581362|PMID:32654475|PMID:32851917|PMID:33072517|PMID:33098801|PMID:34272103|PMID:7898702|PMID:9536098 11711679 PANK2 pantothenate kinase 2 gene DOID:543 dystonia ISO RGD:1313038 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:11479594|PMID:12058097|PMID:12510040|PMID:1734303|PMID:25741868|PMID:28492532|PMID:32581362 11711679 PANK2 pantothenate kinase 2 gene DOID:630 genetic disease ISO RGD:1313038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11479594|PMID:12058097|PMID:12510040|PMID:14638969|PMID:15565311|PMID:15659606|PMID:15834858|PMID:16199547|PMID:16272150|PMID:16437574|PMID:16450344|PMID:22221393|PMID:22416811|PMID:23968566|PMID:24075960|PMID:24215330|PMID:24348190|PMID:25741868|PMID:25802776|PMID:26087139|PMID:26795593|PMID:27185474|PMID:28492532|PMID:28708303|PMID:28781879|PMID:28863176|PMID:29590070|PMID:31540697|PMID:32654475|PMID:7898702 11711679 PANK2 pantothenate kinase 2 gene DOID:9002955 Nerve Degeneration ISO RGD:1313038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20493851 11711679 PANK2 pantothenate kinase 2 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1313038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 11711679 PANK2 pantothenate kinase 2 gene DOID:9004936 Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration ISO RGD:1313038 D RGD:7240710 20180130 OMIM 11711679 PANK2 pantothenate kinase 2 gene DOID:9004936 Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration ISO RGD:1313038 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration PMID:11479594|PMID:12058097|PMID:12510040|PMID:12523119|PMID:14631201|PMID:14638969|PMID:14743358|PMID:15565311|PMID:15659606|PMID:15834858|PMID:16199547|PMID:16272150|PMID:16437574|PMID:16450344|PMID:1734303|PMID:20629144|PMID:22221393|PMID:22416811|PMID:23968566|PMID:24075960|PMID:24215330|PMID:24348190|PMID:25741868|PMID:25802776|PMID:26087139|PMID:26467025|PMID:26795593|PMID:27185474|PMID:28492532|PMID:28708303|PMID:28781879|PMID:28863176|PMID:29590070|PMID:31540697|PMID:32581362|PMID:32654475|PMID:33072517|PMID:7898702 11711692 DDX52 DExD-box helicase 52 gene DOID:0060041 autism spectrum disorder ISO RGD:1349454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 11711692 DDX52 DExD-box helicase 52 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1349454 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 11711692 DDX52 DExD-box helicase 52 gene DOID:12849 autistic disorder ISO RGD:1349454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11711692 DDX52 DExD-box helicase 52 gene DOID:5419 schizophrenia ISO RGD:1349454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11711692 DDX52 DExD-box helicase 52 gene DOID:630 genetic disease ISO RGD:1349454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711692 DDX52 DExD-box helicase 52 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11711692 DDX52 DExD-box helicase 52 gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:1349454 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 11711711 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:0060870 isolated growth hormone deficiency ISO RGD:68640 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:11248743|REF_RGD_ID:12910859 11711711 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:0080325 tuberous sclerosis 2 ISO RGD:68640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 11711711 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:68640 D RGD:9068941 20200609 RGD PMID:19207313|REF_RGD_ID:12910858 11711711 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:68640 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11711711 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:1184 nephrotic syndrome ISO RGD:68640 D RGD:9068941 20200609 RGD PMID:11248742|REF_RGD_ID:12910863 11711711 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:1826 epilepsy ISO RGD:68640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11711711 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:1827 idiopathic generalized epilepsy ISO RGD:68640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11711711 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:3490 Noonan syndrome ISO RGD:68640 D RGD:9068941 20200609 RGD PMID:16263833|REF_RGD_ID:11063837 11711711 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:630 genetic disease ISO RGD:68640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11711711 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:684 hepatocellular carcinoma ISO RGD:68640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11711711 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:8689 anorexia nervosa ISO RGD:68640 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:11248743|REF_RGD_ID:12910859 11711711 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:9000528 Coronary Disease ISO RGD:68640 D RGD:9068941 20200609 RGD PMID:15521962|REF_RGD_ID:1626121 11711711 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:9001239 Delayed Puberty ISO RGD:68640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14762184|PMID:17726072 11711711 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:68640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11711711 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency ISO RGD:68640 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:21636299|REF_RGD_ID:12910854 11711711 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:9005930 Endotoxemia ISO RGD:68429 D RGD:9068941 20200609 RGD PMID:12217886|REF_RGD_ID:625688 11711711 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:9006257 Growth Disorders ISO RGD:68640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14762184|PMID:17726072 11711711 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:9007303 Idiopathic Short Stature, Autosomal ISO RGD:68640 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.L127P (c.380T>C) (human) PMID:23488611|REF_RGD_ID:12910853 11711711 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:9007692 Insulin Resistance ISO RGD:68640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17726072 11711711 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:9007730 Burns ISO RGD:68429 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:10827012|REF_RGD_ID:12910869 11711711 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:9008272 Acid-Labile Subunit Deficiency ISO RGD:68640 D RGD:7240710 20180130 OMIM 11711711 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:9008272 Acid-Labile Subunit Deficiency ISO RGD:68640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature due to primary acid-labile subunit deficiency PMID:14762184|PMID:17726072|PMID:18303074|PMID:20591980|PMID:22678306|PMID:22991227|PMID:23488611|PMID:24335034|PMID:25741868|PMID:26418010|PMID:27018247|PMID:28492532 11711717 ZBTB43 zinc finger and BTB domain containing 43 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1321100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11711717 ZBTB43 zinc finger and BTB domain containing 43 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1321100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11711717 ZBTB43 zinc finger and BTB domain containing 43 gene DOID:0080600 COVID-19 ISO RGD:1321100 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11711717 ZBTB43 zinc finger and BTB domain containing 43 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1321100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11711717 ZBTB43 zinc finger and BTB domain containing 43 gene DOID:630 genetic disease ISO RGD:1321100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711717 ZBTB43 zinc finger and BTB domain containing 43 gene DOID:9467 nail-patella syndrome ISO RGD:1321100 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Nail-patella syndrome PMID:18414507 11711727 ARFGEF1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1348298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 21 PMID:16199547|PMID:17576681|PMID:24360803|PMID:24360807|PMID:24360808|PMID:25741868|PMID:26092869|PMID:28492532|PMID:9536098 11711727 ARFGEF1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:0111040 glycogen storage disease IXd ISO RGD:1348298 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXd PMID:25741868 11711727 ARFGEF1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:1059 intellectual disability ISO RGD:1348298 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:34113008 11711727 ARFGEF1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:1826 epilepsy ISO RGD:1348298 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:34113008 11711727 ARFGEF1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:2234 focal epilepsy ISO RGD:1348298 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:25741868 11711727 ARFGEF1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:630 genetic disease ISO RGD:1348298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11711727 ARFGEF1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:9000526 DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES ISO RGD:1348298 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay, impaired speech, and behavioral abnormalities PMID:25741868 11711727 ARFGEF1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348298 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:34113008 11711727 ARFGEF1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1348298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:34113008 11711727 ARFGEF1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:9008363 GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT ISO RGD:1348298 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay with or without impaired intellectual development PMID:25741868 11711727 ARFGEF1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:9008567 DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES ISO RGD:1348298 D RGD:7240710 20221207 OMIM 11711727 ARFGEF1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:9008567 DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES ISO RGD:1348298 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures PMID:25741868|PMID:34113008 11711770 RUSC2 RUN and SH3 domain containing 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1351272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11711770 RUSC2 RUN and SH3 domain containing 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1351272 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11711770 RUSC2 RUN and SH3 domain containing 2 gene DOID:0080239 autosomal recessive intellectual developmental disorder 61 ISO RGD:1351272 D RGD:7240710 20190315 OMIM 11711770 RUSC2 RUN and SH3 domain containing 2 gene DOID:0080239 autosomal recessive intellectual developmental disorder 61 ISO RGD:1351272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALWADEI SYNDROME | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 61 PMID:25741868|PMID:27612186|PMID:28492532 11711770 RUSC2 RUN and SH3 domain containing 2 gene DOID:0080942 anauxetic dysplasia ISO RGD:1351272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11711770 RUSC2 RUN and SH3 domain containing 2 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1351272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11711770 RUSC2 RUN and SH3 domain containing 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1351272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11711770 RUSC2 RUN and SH3 domain containing 2 gene DOID:630 genetic disease ISO RGD:1351272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11711770 RUSC2 RUN and SH3 domain containing 2 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1351272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11711770 RUSC2 RUN and SH3 domain containing 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11711770 RUSC2 RUN and SH3 domain containing 2 gene DOID:9870 galactosemia ISO RGD:1351272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11711786 C20H20orf173 chromosome 20 C20orf173 homolog gene DOID:630 genetic disease ISO RGD:1351674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711814 CDK3 cyclin dependent kinase 3 gene DOID:630 genetic disease ISO RGD:1353695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711830 TNFSF10 TNF superfamily member 10 gene DOID:0050685 small cell carcinoma ISO RGD:1344832 D RGD:9068941 20200609 RGD PMID:16313792|REF_RGD_ID:2312747 11711830 TNFSF10 TNF superfamily member 10 gene DOID:0080600 COVID-19 ISO RGD:1344832 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11711830 TNFSF10 TNF superfamily member 10 gene DOID:0080600 COVID-19 ISO RGD:1344832 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11711830 TNFSF10 TNF superfamily member 10 gene DOID:1062 Fanconi syndrome ISO RGD:1344832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 11711830 TNFSF10 TNF superfamily member 10 gene DOID:11612 polycystic ovary syndrome ISO RGD:628734 D RGD:9068941 20200609 RGD protein:increased expression:ovary follicle, granulosa cell PMID:17641850|REF_RGD_ID:2312746 11711830 TNFSF10 TNF superfamily member 10 gene DOID:1240 leukemia ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17204177 11711830 TNFSF10 TNF superfamily member 10 gene DOID:1793 pancreatic cancer ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11234897 11711830 TNFSF10 TNF superfamily member 10 gene DOID:2349 arteriosclerosis ISO RGD:1344832 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17000905|REF_RGD_ID:2312742 11711830 TNFSF10 TNF superfamily member 10 gene DOID:3068 glioblastoma ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21877938 11711830 TNFSF10 TNF superfamily member 10 gene DOID:3070 high grade glioma ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16820965|PMID:19229339 11711830 TNFSF10 TNF superfamily member 10 gene DOID:3910 lung adenocarcinoma ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24345465 11711830 TNFSF10 TNF superfamily member 10 gene DOID:4450 renal cell carcinoma ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20403343 11711830 TNFSF10 TNF superfamily member 10 gene DOID:630 genetic disease ISO RGD:1344832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711830 TNFSF10 TNF superfamily member 10 gene DOID:684 hepatocellular carcinoma ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17326159 11711830 TNFSF10 TNF superfamily member 10 gene DOID:769 neuroblastoma ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16820965 11711830 TNFSF10 TNF superfamily member 10 gene DOID:8398 osteoarthritis ISO RGD:628734 D RGD:9068941 20200609 RGD PMID:14872496|REF_RGD_ID:2290500 11711830 TNFSF10 TNF superfamily member 10 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21209944 11711830 TNFSF10 TNF superfamily member 10 gene DOID:9000998 Brain Injuries ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 11711830 TNFSF10 TNF superfamily member 10 gene DOID:9001488 Human Influenza ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11711830 TNFSF10 TNF superfamily member 10 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1344832 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:18287563|REF_RGD_ID:2312739 11711830 TNFSF10 TNF superfamily member 10 gene DOID:9002170 Experimental Neoplasms ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17767197|PMID:24345465 11711830 TNFSF10 TNF superfamily member 10 gene DOID:9002265 Kidney Neoplasms ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16985049 11711830 TNFSF10 TNF superfamily member 10 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16368536|PMID:17636462|PMID:17718901|PMID:21209944 11711830 TNFSF10 TNF superfamily member 10 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21616060 11711830 TNFSF10 TNF superfamily member 10 gene DOID:9002928 Colonic Neoplasms ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15993848 11711830 TNFSF10 TNF superfamily member 10 gene DOID:9003204 Neovascularization, Pathologic ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19509267|PMID:21209944 11711830 TNFSF10 TNF superfamily member 10 gene DOID:9003281 Spontaneous Abortions ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11711830 TNFSF10 TNF superfamily member 10 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21252285 11711830 TNFSF10 TNF superfamily member 10 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1344832 D RGD:9068941 20200609 RGD PMID:19572802|REF_RGD_ID:2312737 11711830 TNFSF10 TNF superfamily member 10 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628734 D RGD:9068941 20200609 RGD PMID:18649770|REF_RGD_ID:2312738 11711830 TNFSF10 TNF superfamily member 10 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732827 D RGD:9068941 20200609 RGD PMID:12577054|REF_RGD_ID:2312744 11711830 TNFSF10 TNF superfamily member 10 gene DOID:9007188 Liver Neoplasms ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18980244 11711830 TNFSF10 TNF superfamily member 10 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20071162 11711830 TNFSF10 TNF superfamily member 10 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17273769 11711830 TNFSF10 TNF superfamily member 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18483385 11711830 TNFSF10 TNF superfamily member 10 gene DOID:9119 acute myeloid leukemia ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12780785 11711830 TNFSF10 TNF superfamily member 10 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1344832 D RGD:9068941 20200609 RGD PMID:18057577|REF_RGD_ID:2312740 11711830 TNFSF10 TNF superfamily member 10 gene DOID:9744 type 1 diabetes mellitus ISO RGD:732827 D RGD:9068941 20200609 RGD PMID:12882912|REF_RGD_ID:2312743 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:0080016 spina bifida susceptibility ISO RGD:1606343 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.D148E (human) PMID:15887293|REF_RGD_ID:2315675 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:1606343 D RGD:9068941 20200609 RGD PMID:19041121|REF_RGD_ID:2315660 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:114 heart disease ISO RGD:1606343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22262564 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:11832 visual epilepsy ISO RGD:2126 D RGD:9068941 20200609 RGD protein:increased expression:neuron PMID:15854596|REF_RGD_ID:2302852 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:1380 endometrial cancer ISO RGD:1606343 D RGD:9068941 20200609 RGD DNA:nonsense mutation, missense mutations: :p.W188X, p.P112L, p.R237C (human) PMID:11465542|REF_RGD_ID:2315878 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1606343 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.D148E (human) PMID:18701435|REF_RGD_ID:2315661 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:1824 status epilepticus ISO RGD:2126 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:11852039|REF_RGD_ID:1599366 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:1909 melanoma ISO RGD:1606343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16373707 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:2316 brain ischemia ISO RGD:2126 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus CA1, neuron PMID:9030714|REF_RGD_ID:2315686 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:2394 ovarian cancer ISO RGD:1606343 D RGD:9068941 20200609 RGD PMID:17974506|PMID:19787261|REF_RGD_ID:2315656|REF_RGD_ID:2315663 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:2893 cervix carcinoma ISO RGD:1606343 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:19202550|REF_RGD_ID:2315691 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:3459 breast carcinoma disease_progression ISO RGD:1606343 D RGD:9068941 20200609 RGD protein:altered localization:cytoplasm PMID:11748448|REF_RGD_ID:2315667 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1606343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:4362 cervical cancer ISO RGD:1606343 D RGD:9068941 20200609 RGD PMID:19292061|REF_RGD_ID:2315657 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:4362 cervical cancer ISO RGD:1606343 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.D148E (human) PMID:18503157|REF_RGD_ID:2315662 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1606343 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:630 genetic disease ISO RGD:1606343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1606343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25109342 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2126 D RGD:9068941 20220714 RGD PMID:33841550|REF_RGD_ID:152998960 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:850 lung disease ISO RGD:2126 D RGD:9068941 20200609 RGD PMID:17280489|REF_RGD_ID:2315673 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:1606343 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:prostate, cytoplasm PMID:11309329|REF_RGD_ID:2315666 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2126 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:18637713|REF_RGD_ID:2315670 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1606343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1606343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24036326 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9000918 Disease Progression ISO RGD:1606343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9000998 Brain Injuries ISO RGD:1606343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11447995 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16406883|PMID:29541389 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606343 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:prostate, cytoplasm PMID:11309329|REF_RGD_ID:2315666 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9002304 Prostatic Neoplasms susceptibility ISO RGD:1606343 D RGD:9068941 20200609 RGD PMID:16406883|REF_RGD_ID:2315665 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:2126 D RGD:9068941 20200609 RGD PMID:15344903|REF_RGD_ID:2315676 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2126 D RGD:9068941 20200609 RGD protein:increased expression:placenta PMID:18373555|REF_RGD_ID:2315671 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9006205 Animal Disease Models ISO RGD:1606343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1606343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22245109 11711844 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2126 D RGD:9068941 20200609 RGD protein:altered localization:cytoplasm PMID:17602955|REF_RGD_ID:2315672 11711858 ACER1 alkaline ceramidase 1 gene DOID:630 genetic disease ISO RGD:1344470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711868 SKIC8 SKI8 subunit of superkiller complex gene DOID:2717 Bloom syndrome ISO RGD:1601957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11711868 SKIC8 SKI8 subunit of superkiller complex gene DOID:9256 colorectal cancer ISO RGD:1601957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11711889 UHRF2 ubiquitin like with PHD and ring finger domains 2 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1320632 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 11711889 UHRF2 ubiquitin like with PHD and ring finger domains 2 gene DOID:630 genetic disease ISO RGD:1320632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711909 ARHGAP5 Rho GTPase activating protein 5 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1318315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:21681106 11711909 ARHGAP5 Rho GTPase activating protein 5 gene DOID:0111586 Martsolf syndrome 1 ISO RGD:1318315 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:25741868 11711909 ARHGAP5 Rho GTPase activating protein 5 gene DOID:630 genetic disease ISO RGD:1318315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711909 ARHGAP5 Rho GTPase activating protein 5 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1318315 D RGD:9068941 20210430 RGD associated with nasopharynx carcinoma;mRNA, protein:increased expression: epithelium of nasopharynx PMID:25961434|REF_RGD_ID:11056278 11711909 ARHGAP5 Rho GTPase activating protein 5 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1318315 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11711909 ARHGAP5 Rho GTPase activating protein 5 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1308507 D RGD:9068941 20210430 RGD mRNA:increased expression:mammary gland PMID:10939588|REF_RGD_ID:2316183 11711909 ARHGAP5 Rho GTPase activating protein 5 gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:1318316 D RGD:9068941 20210430 RGD PMID:19703301|REF_RGD_ID:126848766 11711909 ARHGAP5 Rho GTPase activating protein 5 gene DOID:9007098 Pulmonary Atresia ISO RGD:1318315 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia 11711909 ARHGAP5 Rho GTPase activating protein 5 gene DOID:9009121 lung metastasis ISO RGD:1318316 D RGD:9068941 20210430 RGD associated with Mammary Neoplasms, Experimental PMID:20860838|REF_RGD_ID:126848767 11711925 FAM221B family with sequence similarity 221 member B gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1321320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11711925 FAM221B family with sequence similarity 221 member B gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1321320 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11711925 FAM221B family with sequence similarity 221 member B gene DOID:0080942 anauxetic dysplasia ISO RGD:1321320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11711925 FAM221B family with sequence similarity 221 member B gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1321320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11711925 FAM221B family with sequence similarity 221 member B gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1321320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11711925 FAM221B family with sequence similarity 221 member B gene DOID:630 genetic disease ISO RGD:1321320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711925 FAM221B family with sequence similarity 221 member B gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1321320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11711925 FAM221B family with sequence similarity 221 member B gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11711925 FAM221B family with sequence similarity 221 member B gene DOID:9870 galactosemia ISO RGD:1321320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11711936 CCNP cyclin P gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1602462 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11711936 CCNP cyclin P gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11711936 CCNP cyclin P gene DOID:1342 congenital hypoplastic anemia ISO RGD:1602462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11711936 CCNP cyclin P gene DOID:2340 craniosynostosis ISO RGD:1602462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11711936 CCNP cyclin P gene DOID:630 genetic disease ISO RGD:1602462 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711936 CCNP cyclin P gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1602462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11711936 CCNP cyclin P gene DOID:9269 maple syrup urine disease ISO RGD:1602462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11711936 CCNP cyclin P gene DOID:9352 type 2 diabetes mellitus ISO RGD:1602462 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11711950 WDR18 WD repeat domain 18 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1321673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 11711950 WDR18 WD repeat domain 18 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1321673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 11711950 WDR18 WD repeat domain 18 gene DOID:5339 cyclic hematopoiesis ISO RGD:1321673 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11711950 WDR18 WD repeat domain 18 gene DOID:630 genetic disease ISO RGD:1321673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711964 CYSRT1 cysteine rich tail 1 gene DOID:0050777 Joubert syndrome ISO RGD:1603334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11711964 CYSRT1 cysteine rich tail 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1603334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 11711964 CYSRT1 cysteine rich tail 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1603334 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 11711964 CYSRT1 cysteine rich tail 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1603334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11711964 CYSRT1 cysteine rich tail 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1603334 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11711964 CYSRT1 cysteine rich tail 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1603334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11711964 CYSRT1 cysteine rich tail 1 gene DOID:1826 epilepsy ISO RGD:1603334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11711964 CYSRT1 cysteine rich tail 1 gene DOID:630 genetic disease ISO RGD:1603334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711964 CYSRT1 cysteine rich tail 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1603334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11711970 GOSR2 golgi SNAP receptor complex member 2 gene DOID:0060224 atrial fibrillation ISO RGD:731739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 11711970 GOSR2 golgi SNAP receptor complex member 2 gene DOID:0111449 progressive myoclonus epilepsy 6 ISO RGD:731739 D RGD:7240710 20180130 OMIM 11711970 GOSR2 golgi SNAP receptor complex member 2 gene DOID:0111449 progressive myoclonus epilepsy 6 ISO RGD:731739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 6 PMID:16199547|PMID:19057520|PMID:21549339|PMID:23449775|PMID:24458321|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28982678|PMID:29855340|PMID:33639315|PMID:34167170 11711970 GOSR2 golgi SNAP receptor complex member 2 gene DOID:630 genetic disease ISO RGD:731739 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:19057520|PMID:21549339|PMID:23449775|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 11711970 GOSR2 golgi SNAP receptor complex member 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:731739 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:16199547|PMID:17576681|PMID:19057520|PMID:21549339|PMID:23449775|PMID:24458321|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29855340|PMID:33639315|PMID:9536098 11711970 GOSR2 golgi SNAP receptor complex member 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:731739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:16199547|PMID:17576681|PMID:19057520|PMID:21549339|PMID:23449775|PMID:24458321|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28982678|PMID:29855340|PMID:30363482|PMID:33639315|PMID:9536098 11711970 GOSR2 golgi SNAP receptor complex member 2 gene DOID:9003754 MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES ISO RGD:731739 D RGD:7240710 20230301 OMIM 11711970 GOSR2 golgi SNAP receptor complex member 2 gene DOID:9003754 MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES ISO RGD:731739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, congenital, with or without seizures PMID:16199547|PMID:21549339|PMID:23449775|PMID:24458321|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28982678|PMID:29855340|PMID:33639315|PMID:34167170 11711970 GOSR2 golgi SNAP receptor complex member 2 gene DOID:9884 muscular dystrophy ISO RGD:731739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:21549339|PMID:23449775|PMID:24458321|PMID:25741868|PMID:28492532|PMID:28982678|PMID:29855340|PMID:33639315 11711996 TPM1 tropomyosin 1 gene DOID:0050700 cardiomyopathy ISO RGD:737098 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:11606294|PMID:11968089|PMID:12473556|PMID:14734051|PMID:15000344|PMID:16014439|PMID:16504640|PMID:17576681|PMID:18403758|PMID:18533079|PMID:19035361|PMID:20159828|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:22958901|PMID:23204897|PMID:23674513|PMID:23700264|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24503780|PMID:24793961|PMID:25031304|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26936621|PMID:27177193|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28301460|PMID:28356264|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28790153|PMID:29024827|PMID:29121657|PMID:29192238|PMID:29517769|PMID:29760186|PMID:30165862|PMID:31270709|PMID:31513939|PMID:32880476|PMID:33495597|PMID:33673806|PMID:34008892|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100 11711996 TPM1 tropomyosin 1 gene DOID:0050700 cardiomyopathy ISO RGD:737098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11606294|PMID:11968089|PMID:12473556|PMID:14734051|PMID:15000344|PMID:16014439|PMID:16504640|PMID:17576681|PMID:18403758|PMID:18533079|PMID:19035361|PMID:20159828|PMID:20215591|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21320446|PMID:21376702|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:22958901|PMID:23147248|PMID:23204897|PMID:23283745|PMID:23674513|PMID:23700264|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24503780|PMID:24793961|PMID:25031304|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26936621|PMID:27177193|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28301460|PMID:28356264|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28790153|PMID:29024827|PMID:29121657|PMID:29192238|PMID:29517769|PMID:29760186|PMID:29907873|PMID:30165862|PMID:30240712|PMID:30297972|PMID:30847666|PMID:31270709|PMID:31513939|PMID:32880476|PMID:33495597|PMID:33673806|PMID:34008892|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100 11711996 TPM1 tropomyosin 1 gene DOID:0050700 cardiomyopathy ISO RGD:737098 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11606294|PMID:11968089|PMID:12473556|PMID:12858563|PMID:12860912|PMID:14734051|PMID:15000344|PMID:16005017|PMID:16014439|PMID:16365313|PMID:16504640|PMID:17576681|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:19035361|PMID:20031602|PMID:20159828|PMID:20215591|PMID:20965760|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21551322|PMID:21835320|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:22958901|PMID:23071391|PMID:23147248|PMID:23204897|PMID:23283745|PMID:23396983|PMID:23508784|PMID:23674513|PMID:23700264|PMID:23771913|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24503780|PMID:24510615|PMID:24793961|PMID:25031304|PMID:25241052|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25389285|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26936621|PMID:26960954|PMID:27177193|PMID:27376658|PMID:27532257|PMID:27600940|PMID:27639548|PMID:28138913|PMID:28301460|PMID:28356264|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28771489|PMID:28790153|PMID:28797094|PMID:28986452|PMID:29024827|PMID:29105867|PMID:29121657|PMID:29192238|PMID:29517769|PMID:29760186|PMID:29907873|PMID:30165862|PMID:30240712|PMID:30297972|PMID:30847666|PMID:31006259|PMID:31270709|PMID:31308319|PMID:31513939|PMID:32731933|PMID:32880476|PMID:32882290|PMID:33297573|PMID:33495597|PMID:33642254|PMID:33673806|PMID:33919104|PMID:34008892|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100 11711996 TPM1 tropomyosin 1 gene DOID:0060480 left ventricular noncompaction ISO RGD:737098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:22958901|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532 11711996 TPM1 tropomyosin 1 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:24033266|PMID:25741868|PMID:28492532 11711996 TPM1 tropomyosin 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11606294|PMID:11968089|PMID:12473556|PMID:12858563|PMID:12860912|PMID:14734051|PMID:15000344|PMID:15519027|PMID:16014439|PMID:16365313|PMID:16504640|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:19035361|PMID:20031602|PMID:20965760|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21551322|PMID:21835320|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:23071391|PMID:23204897|PMID:23396983|PMID:23508784|PMID:23700264|PMID:23771913|PMID:24033266|PMID:24510615|PMID:25241052|PMID:25351510|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26936621|PMID:26960954|PMID:27376658|PMID:27532257|PMID:27600940|PMID:27639548|PMID:27983818|PMID:28138913|PMID:28492532|PMID:28615295|PMID:28986452|PMID:29121657|PMID:29760186|PMID:30165862|PMID:30240712|PMID:31006259|PMID:31270709|PMID:31308319|PMID:32882290|PMID:33297573|PMID:33673806|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9440709|PMID:9822100 11711996 TPM1 tropomyosin 1 gene DOID:0110106 atrial heart septal defect 1 ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect 1 PMID:28359939 11711996 TPM1 tropomyosin 1 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11606294|PMID:11968089|PMID:12473556|PMID:12858563|PMID:12860912|PMID:14734051|PMID:15000344|PMID:16014439|PMID:16365313|PMID:16504640|PMID:17576681|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:19035361|PMID:20031602|PMID:20965760|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21551322|PMID:21835320|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:23071391|PMID:23204897|PMID:23396983|PMID:23508784|PMID:23700264|PMID:23771913|PMID:24033266|PMID:24510615|PMID:25241052|PMID:25351510|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26936621|PMID:26960954|PMID:27376658|PMID:27532257|PMID:27600940|PMID:27639548|PMID:28138913|PMID:28492532|PMID:28615295|PMID:28790153|PMID:28986452|PMID:29121657|PMID:29760186|PMID:30165862|PMID:30240712|PMID:31006259|PMID:31270709|PMID:31308319|PMID:32882290|PMID:33297573|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9440709|PMID:9536098|PMID:9822100 11711996 TPM1 tropomyosin 1 gene DOID:0110309 hypertrophic cardiomyopathy 3 ISO RGD:737098 D RGD:7240710 20180130 OMIM 11711996 TPM1 tropomyosin 1 gene DOID:0110309 hypertrophic cardiomyopathy 3 ISO RGD:737098 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 3 PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11044437|PMID:11136687|PMID:11603924|PMID:11606294|PMID:11968089|PMID:12006676|PMID:12473556|PMID:12858563|PMID:12860912|PMID:12900417|PMID:14734051|PMID:15000344|PMID:15059934|PMID:15479242|PMID:16005017|PMID:16014439|PMID:16365313|PMID:16504640|PMID:17576681|PMID:18403758|PMID:18409188|PMID:18414213|PMID:19035361|PMID:20031602|PMID:20117437|PMID:20161772|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21551322|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:23147248|PMID:23396983|PMID:23539503|PMID:23771913|PMID:24033266|PMID:24170035|PMID:24183960|PMID:24503780|PMID:24510615|PMID:25241052|PMID:25242052|PMID:25326635|PMID:25351510|PMID:25389285|PMID:25524337|PMID:25525159|PMID:25548289|PMID:25611685|PMID:25741868|PMID:26960954|PMID:27177193|PMID:27376658|PMID:27532257|PMID:27639548|PMID:28138913|PMID:28301460|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28600229|PMID:28603979|PMID:28615295|PMID:28771489|PMID:28797094|PMID:28986452|PMID:29024827|PMID:29105867|PMID:29398688|PMID:29496559|PMID:29517769|PMID:29540472|PMID:29760186|PMID:30022097|PMID:30165862|PMID:31006259|PMID:31270709|PMID:32731933|PMID:32880476|PMID:32882290|PMID:33297573|PMID:33495597|PMID:33642254|PMID:33919104|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:8774330|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100 11711996 TPM1 tropomyosin 1 gene DOID:0110457 dilated cardiomyopathy 1Y ISO RGD:737098 D RGD:7240710 20180130 OMIM 11711996 TPM1 tropomyosin 1 gene DOID:0110457 dilated cardiomyopathy 1Y ISO RGD:737098 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1Y | ClinVar Annotator: match by term: Left ventricular noncompaction 9 PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11273725|PMID:11606294|PMID:11968089|PMID:12473556|PMID:12858563|PMID:12860912|PMID:14734051|PMID:15000344|PMID:15923195|PMID:16014439|PMID:16043485|PMID:16365313|PMID:16504640|PMID:17556658|PMID:17576681|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:19035361|PMID:19222994|PMID:19646950|PMID:20031602|PMID:20530761|PMID:20965760|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21551322|PMID:21741356|PMID:21835320|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:23071391|PMID:23077624|PMID:23204897|PMID:23396983|PMID:23508784|PMID:23539503|PMID:23700264|PMID:23771913|PMID:24033266|PMID:24183960|PMID:24503780|PMID:24510615|PMID:24691700|PMID:25241052|PMID:25326635|PMID:25351510|PMID:25389285|PMID:25520664|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26688388|PMID:26899768|PMID:26936621|PMID:26960954|PMID:27177193|PMID:27376658|PMID:27532257|PMID:27600940|PMID:27639548|PMID:27878731|PMID:28138913|PMID:28359939|PMID:28492532|PMID:28615295|PMID:28986452|PMID:29024827|PMID:29121657|PMID:29517769|PMID:29644095|PMID:29760186|PMID:30165862|PMID:30188508|PMID:30240712|PMID:30847666|PMID:31006259|PMID:31270709|PMID:31308319|PMID:32600061|PMID:32618513|PMID:32882290|PMID:33297573|PMID:33888711|PMID:34008892|PMID:34036930|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100 11711996 TPM1 tropomyosin 1 gene DOID:10763 hypertension ISO RGD:737098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 11711996 TPM1 tropomyosin 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11044437|PMID:11136687|PMID:11273725|PMID:11603924|PMID:11606294|PMID:11968089|PMID:12006676|PMID:12169652|PMID:12473556|PMID:12651045|PMID:12858563|PMID:12860912|PMID:12900417|PMID:14734051|PMID:15000344|PMID:15059934|PMID:15249230|PMID:15479242|PMID:15519027|PMID:15923195|PMID:16005017|PMID:16014439|PMID:16043485|PMID:16199547|PMID:16365313|PMID:16504640|PMID:17556658|PMID:17576681|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:19035361|PMID:19222994|PMID:19646950|PMID:19659763|PMID:20031602|PMID:20117437|PMID:20159828|PMID:20161772|PMID:20215591|PMID:20965760|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21483645|PMID:21551322|PMID:21642532|PMID:21741356|PMID:21835320|PMID:21839045|PMID:21840315|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:22958901|PMID:23071391|PMID:23077624|PMID:23147248|PMID:23204897|PMID:23283745|PMID:23349452|PMID:23396983|PMID:23508784|PMID:23539503|PMID:23674513|PMID:23700264|PMID:23771913|PMID:24033266|PMID:24170035|PMID:24183960|PMID:24503780|PMID:24510615|PMID:24691700|PMID:24793961|PMID:25031304|PMID:25241052|PMID:25242052|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25520664|PMID:25524337|PMID:25525159|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26025024|PMID:26688388|PMID:26873245|PMID:26899768|PMID:26936621|PMID:26960954|PMID:27177193|PMID:27376658|PMID:27532257|PMID:27600940|PMID:27639548|PMID:27878731|PMID:27983818|PMID:28138913|PMID:28301460|PMID:28356264|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28600229|PMID:28603979|PMID:28615295|PMID:28732641|PMID:28771489|PMID:28790153|PMID:28797094|PMID:28855170|PMID:28986452|PMID:29024827|PMID:29105867|PMID:29121657|PMID:29192238|PMID:29255176|PMID:29398688|PMID:29447731|PMID:29496559|PMID:29517769|PMID:29540472|PMID:29644095|PMID:29760186|PMID:29907873|PMID:30022097|PMID:30165862|PMID:30188508|PMID:30240712|PMID:30297972|PMID:30847666|PMID:30923642|PMID:31006259|PMID:31090107|PMID:31270709|PMID:31308319|PMID:31333075|PMID:31513939|PMID:31568572|PMID:31983221|PMID:32183154|PMID:32600061|PMID:32618513|PMID:32731933|PMID:32880476|PMID:32882290|PMID:33082984|PMID:33297573|PMID:33495597|PMID:33642254|PMID:33673806|PMID:33888711|PMID:33919104|PMID:34008892|PMID:34036930|PMID:34540771|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:8774330|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100 11711996 TPM1 tropomyosin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11106625|PMID:18533079|PMID:20117437|PMID:20159828|PMID:20215591|PMID:20530761|PMID:21310275|PMID:21483645|PMID:23539503|PMID:23674513|PMID:24033266|PMID:25031304|PMID:25241052|PMID:25242052|PMID:25326635|PMID:25525159|PMID:25548289|PMID:25741868|PMID:26899768|PMID:27177193|PMID:27532257|PMID:28359939|PMID:28492532|PMID:28600229|PMID:28603979|PMID:29024827|PMID:29517769|PMID:31333075|PMID:31568572 11711996 TPM1 tropomyosin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:737098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11106625|PMID:18533079|PMID:20117437|PMID:20159828|PMID:20215591|PMID:20530761|PMID:21310275|PMID:21483645|PMID:23539503|PMID:23674513|PMID:24033266|PMID:24503780|PMID:25031304|PMID:25241052|PMID:25242052|PMID:25326635|PMID:25525159|PMID:25548289|PMID:25741868|PMID:26899768|PMID:27177193|PMID:27532257|PMID:28359939|PMID:28492532|PMID:28600229|PMID:28603979|PMID:29024827|PMID:29496559|PMID:29517769|PMID:30240712|PMID:30847666|PMID:31270709|PMID:31333075|PMID:31568572 11711996 TPM1 tropomyosin 1 gene DOID:2717 Bloom syndrome ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11711996 TPM1 tropomyosin 1 gene DOID:2843 long QT syndrome ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24033266|PMID:25741868 11711996 TPM1 tropomyosin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 11711996 TPM1 tropomyosin 1 gene DOID:630 genetic disease ISO RGD:737098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11711996 TPM1 tropomyosin 1 gene DOID:6419 tetralogy of Fallot ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:28359939 11711996 TPM1 tropomyosin 1 gene DOID:9000058 Keloid ISO RGD:737098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 11711996 TPM1 tropomyosin 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:737098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 11711996 TPM1 tropomyosin 1 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572|PMID:34540771 11711996 TPM1 tropomyosin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11711996 TPM1 tropomyosin 1 gene DOID:9003604 Pulmonary Atresia with Intact Ventricular Septum ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary atresia with intact ventricular septum PMID:28359939 11711996 TPM1 tropomyosin 1 gene DOID:9005141 Ventricular Tachycardia ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Effort-induced polymorphic ventricular tachycardias 11711996 TPM1 tropomyosin 1 gene DOID:9256 colorectal cancer ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11712056 ZNF154 zinc finger protein 154 gene DOID:630 genetic disease ISO RGD:1349269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712073 SEC63 SEC63 homolog, protein translocation regulator gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1312738 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 11712073 SEC63 SEC63 homolog, protein translocation regulator gene DOID:0050770 polycystic liver disease ISO RGD:1312738 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:20095989|PMID:25741868 11712073 SEC63 SEC63 homolog, protein translocation regulator gene DOID:0060062 familial juvenile hyperuricemic nephropathy ISO RGD:1312738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant tubulointerstitial kidney disease 11712073 SEC63 SEC63 homolog, protein translocation regulator gene DOID:0080322 polycystic kidney disease ISO RGD:1312738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21685914 11712073 SEC63 SEC63 homolog, protein translocation regulator gene DOID:630 genetic disease ISO RGD:1312738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11712073 SEC63 SEC63 homolog, protein translocation regulator gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1312738 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Isolated polycystic liver disease | ClinVar Annotator: match by term: Polycystic liver disease 1 PMID:20095989|PMID:25741868|PMID:28492532 11712073 SEC63 SEC63 homolog, protein translocation regulator gene DOID:9006964 Polycystic Liver Disease 2 ISO RGD:1312738 D RGD:7240710 20190315 OMIM 11712073 SEC63 SEC63 homolog, protein translocation regulator gene DOID:9006964 Polycystic Liver Disease 2 ISO RGD:1312738 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polycystic liver disease 2 PMID:15133510|PMID:17576681|PMID:20095989|PMID:24033266|PMID:25741868|PMID:28375157|PMID:28492532|PMID:9536098 11712099 THSD7B thrombospondin type 1 domain containing 7B gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1606777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 11712099 THSD7B thrombospondin type 1 domain containing 7B gene DOID:630 genetic disease ISO RGD:1606777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712135 LMNB1 lamin B1 gene DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy ISO RGD:733220 D RGD:7240710 20180130 OMIM 11712135 LMNB1 lamin B1 gene DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy ISO RGD:733220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy | ClinVar Annotator: match by term: Leukodystrophy, Adult-Onset | ClinVar Annotator: match by term: Syndrome with microcephaly as major feature PMID:16951681|PMID:19151023|PMID:21225301|PMID:21909802|PMID:23649844|PMID:25741868|PMID:28492532|PMID:32910914|PMID:33033404 11712135 LMNB1 lamin B1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733220 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11712135 LMNB1 lamin B1 gene DOID:0080600 COVID-19 ISO RGD:733220 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11712135 LMNB1 lamin B1 gene DOID:10907 microcephaly ISO RGD:733220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11712135 LMNB1 lamin B1 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:733220 D RGD:9068941 20220602 CTD CTD Direct Evidence: marker/mechanism 11712135 LMNB1 lamin B1 gene DOID:3910 lung adenocarcinoma ISO RGD:733220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11712135 LMNB1 lamin B1 gene DOID:630 genetic disease ISO RGD:733220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32910914|PMID:33033404 11712135 LMNB1 lamin B1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11712135 LMNB1 lamin B1 gene DOID:9006205 Animal Disease Models ISO RGD:733220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11712135 LMNB1 lamin B1 gene DOID:9006542 Primary Autosomal Recessive Microcephaly 26 ISO RGD:733220 D RGD:7240710 20210303 OMIM 11712135 LMNB1 lamin B1 gene DOID:9006542 Primary Autosomal Recessive Microcephaly 26 ISO RGD:733220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 26, primary, autosomal dominant PMID:25741868|PMID:32910914|PMID:33033404 11712135 LMNB1 lamin B1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 11712135 LMNB1 lamin B1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733220 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11712150 RDH10 retinol dehydrogenase 10 gene DOID:630 genetic disease ISO RGD:1351497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712150 RDH10 retinol dehydrogenase 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11712150 RDH10 retinol dehydrogenase 10 gene DOID:9001916 Fetal Death ISO RGD:1351497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793605 11712150 RDH10 retinol dehydrogenase 10 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1351497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793605 11712164 GOLGA2 golgin A2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1347402 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11712164 GOLGA2 golgin A2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1347402 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11712164 GOLGA2 golgin A2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1347402 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11712164 GOLGA2 golgin A2 gene DOID:440 neuromuscular disease ISO RGD:1347402 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:25741868|PMID:34424553 11712164 GOLGA2 golgin A2 gene DOID:630 genetic disease ISO RGD:1347402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712164 GOLGA2 golgin A2 gene DOID:9002066 Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities ISO RGD:1347402 D RGD:7240710 20230215 OMIM 11712164 GOLGA2 golgin A2 gene DOID:9002066 Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities ISO RGD:1347402 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay with hypotonia, myopathy, and brain abnormalities PMID:25741868|PMID:26742501|PMID:30237576|PMID:34424553 11712202 LOC100975055 olfactory receptor 4D6 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1345921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11712202 LOC100975055 olfactory receptor 4D6 gene DOID:1059 intellectual disability ISO RGD:1345921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11712202 LOC100975055 olfactory receptor 4D6 gene DOID:630 genetic disease ISO RGD:1345921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712205 CSTF2T cleavage stimulation factor subunit 2 tau variant gene DOID:630 genetic disease ISO RGD:1320690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712205 CSTF2T cleavage stimulation factor subunit 2 tau variant gene DOID:9003536 Familial Thoracic Aortic Aneurysm 8 ISO RGD:1320690 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 PMID:25640679|PMID:28492532 11712211 EPHA3 EPH receptor A3 gene DOID:0060224 atrial fibrillation ISO RGD:68566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11712211 EPHA3 EPH receptor A3 gene DOID:1793 pancreatic cancer ISO RGD:68566 D RGD:9068941 20200609 RGD PMID:14670182|REF_RGD_ID:2317720 11712211 EPHA3 EPH receptor A3 gene DOID:630 genetic disease ISO RGD:68566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712211 EPHA3 EPH receptor A3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:68389 D RGD:9068941 20200609 RGD PMID:16083359|REF_RGD_ID:2301766 11712211 EPHA3 EPH receptor A3 gene DOID:9000972 Fever ISO RGD:68389 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung, liver PMID:15671251|REF_RGD_ID:1581943 11712236 CYP3A4 cytochrome P450 family 3 subfamily A member 4 gene DOID:13580 cholestasis disease_progression ISO RGD:708379 D RGD:9068941 20210827 RGD PMID:29204052|REF_RGD_ID:13782189 11712236 CYP3A4 cytochrome P450 family 3 subfamily A member 4 gene DOID:1612 breast cancer no_association ISO RGD:1352962 D RGD:9068941 20200609 RGD PMID:15180491|REF_RGD_ID:5685600 11712236 CYP3A4 cytochrome P450 family 3 subfamily A member 4 gene DOID:1883 hepatitis C ISO RGD:1352962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8864187 11712236 CYP3A4 cytochrome P450 family 3 subfamily A member 4 gene DOID:2030 anxiety disorder ISO RGD:708379 D RGD:9068941 20210827 RGD protein:altered activity::treatment PMID:17376576|REF_RGD_ID:5685599 11712236 CYP3A4 cytochrome P450 family 3 subfamily A member 4 gene DOID:2987 familial Mediterranean fever sexual_dimorphism ISO RGD:1352962 D RGD:9068941 20201002 RGD DNA:SNPs: :15713T>C,15615T>C (human) PMID:23408444|REF_RGD_ID:39456097 11712236 CYP3A4 cytochrome P450 family 3 subfamily A member 4 gene DOID:3347 osteosarcoma ISO RGD:1352962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17279585 11712236 CYP3A4 cytochrome P450 family 3 subfamily A member 4 gene DOID:4001 ovarian carcinoma ISO RGD:1352962 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35622184 11712236 CYP3A4 cytochrome P450 family 3 subfamily A member 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11712236 CYP3A4 cytochrome P450 family 3 subfamily A member 4 gene DOID:630 genetic disease ISO RGD:1352962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712236 CYP3A4 cytochrome P450 family 3 subfamily A member 4 gene DOID:783 end stage renal disease ISO RGD:708379 D RGD:9068941 20210827 RGD mRNA, protein:decreased expression:intestine PMID:12039987|REF_RGD_ID:7296923 11712236 CYP3A4 cytochrome P450 family 3 subfamily A member 4 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:1352962 D RGD:9068941 20200609 RGD DNA:snp:cds:p.I118V (human) PMID:18566305|REF_RGD_ID:5685415 11712236 CYP3A4 cytochrome P450 family 3 subfamily A member 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496535 11712236 CYP3A4 cytochrome P450 family 3 subfamily A member 4 gene DOID:9004506 VITAMIN D-DEPENDENT RICKETS, TYPE 3 ISO RGD:1352962 D RGD:7240710 20201202 OMIM 11712236 CYP3A4 cytochrome P450 family 3 subfamily A member 4 gene DOID:9004506 VITAMIN D-DEPENDENT RICKETS, TYPE 3 ISO RGD:1352962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 3 PMID:29461981 11712236 CYP3A4 cytochrome P450 family 3 subfamily A member 4 gene DOID:9005372 Inflammation ISO RGD:1352962 D RGD:9068941 20200609 RGD mRna,protein:decreased expression PMID:17576808|REF_RGD_ID:5685598 11712236 CYP3A4 cytochrome P450 family 3 subfamily A member 4 gene DOID:9005372 Inflammation ISO RGD:708379 D RGD:9068941 20210827 CTD CTD Direct Evidence: marker/mechanism PMID:21467745 11712236 CYP3A4 cytochrome P450 family 3 subfamily A member 4 gene DOID:9005444 Torsades de Pointes ISO RGD:1352962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15875343 11712236 CYP3A4 cytochrome P450 family 3 subfamily A member 4 gene DOID:9005539 Familial Prostate Cancer no_association ISO RGD:1352962 D RGD:9068941 20200609 RGD PMID:15180491|REF_RGD_ID:5685600 11712236 CYP3A4 cytochrome P450 family 3 subfamily A member 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28762043 11712236 CYP3A4 cytochrome P450 family 3 subfamily A member 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1352962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496535 11712236 CYP3A4 cytochrome P450 family 3 subfamily A member 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:708379 D RGD:9068941 20210827 CTD CTD Direct Evidence: marker/mechanism PMID:22244987 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69093 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10227563|PMID:10389854|PMID:10447526|PMID:10606640|PMID:10768098|PMID:10819248|PMID:10983627|PMID:11043869|PMID:11272211|PMID:12110948|PMID:12193589|PMID:12203996|PMID:12220494|PMID:12627330|PMID:12669197|PMID:15281001|PMID:15793260|PMID:15830177|PMID:15928245|PMID:16223942|PMID:16602010|PMID:16883527|PMID:16917892|PMID:16946562|PMID:17407387|PMID:17563455|PMID:17573900|PMID:18268044|PMID:18414213|PMID:18811724|PMID:193395|PMID:19406499|PMID:20164212|PMID:20705777|PMID:21353246|PMID:22662265|PMID:22802087|PMID:23227446|PMID:23268925|PMID:23348805|PMID:23485969|PMID:23551881|PMID:24033266|PMID:24097065|PMID:24285859|PMID:24947580|PMID:25041077|PMID:25414397|PMID:25631608|PMID:25741868|PMID:25819479|PMID:26059258|PMID:26467025|PMID:26512799|PMID:26981542|PMID:27080136|PMID:27245055|PMID:27420379|PMID:27486234|PMID:27810688|PMID:27846149|PMID:27913849|PMID:28458902|PMID:28492532|PMID:28693455|PMID:28844315|PMID:29207974|PMID:29355436|PMID:29493090|PMID:29792621|PMID:29998026|PMID:30005691|PMID:30026763|PMID:30191603|PMID:30191644|PMID:30665703|PMID:30977832|PMID:31523701|PMID:31529154|PMID:31529156|PMID:31875549|PMID:31957151|PMID:32583173|PMID:34789499|PMID:34805411|PMID:35052457|PMID:35118593|PMID:36257325|PMID:9267996|PMID:9313765|PMID:9449683 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10227563|PMID:10389854|PMID:10447526|PMID:10606640|PMID:10768098|PMID:10819248|PMID:10983627|PMID:11043869|PMID:11272211|PMID:12110948|PMID:12193589|PMID:12203996|PMID:12220494|PMID:12627330|PMID:12669197|PMID:15281001|PMID:15793260|PMID:15830177|PMID:15928245|PMID:16223942|PMID:16602010|PMID:16883527|PMID:16917892|PMID:16946562|PMID:17407387|PMID:17563455|PMID:17573900|PMID:18268044|PMID:18356407|PMID:18414213|PMID:18811724|PMID:193395|PMID:19406499|PMID:20164212|PMID:20705777|PMID:21353246|PMID:22060211|PMID:22662265|PMID:22802087|PMID:23227446|PMID:23268925|PMID:23348805|PMID:23485969|PMID:23551881|PMID:24033266|PMID:24097065|PMID:24285859|PMID:24947580|PMID:25041077|PMID:25414397|PMID:25631608|PMID:25741868|PMID:25819479|PMID:26059258|PMID:26467025|PMID:26512799|PMID:26981542|PMID:27080136|PMID:27245055|PMID:27420379|PMID:27486234|PMID:27810688|PMID:27846149|PMID:27913849|PMID:28458902|PMID:28492532|PMID:28693455|PMID:28844315|PMID:28862987|PMID:29207974|PMID:29355436|PMID:29417725|PMID:29493090|PMID:29792621|PMID:29998026|PMID:30005691|PMID:30026763|PMID:30191603|PMID:30191644|PMID:30665703|PMID:30977832|PMID:31523701|PMID:31529154|PMID:31529156|PMID:31704690|PMID:31875549|PMID:31957151|PMID:32583173|PMID:34556497|PMID:34789499|PMID:34805411|PMID:35052457|PMID:35118593|PMID:36257325|PMID:9267996|PMID:9313765|PMID:9449683 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10227563|PMID:10389854|PMID:10447526|PMID:10592235|PMID:10606640|PMID:10768098|PMID:10819248|PMID:10983627|PMID:11043869|PMID:11272211|PMID:12110948|PMID:12193589|PMID:12203996|PMID:12220494|PMID:12627330|PMID:12669197|PMID:15281001|PMID:15793260|PMID:15830177|PMID:15928245|PMID:16199547|PMID:16223942|PMID:16602010|PMID:16883527|PMID:16917892|PMID:16946562|PMID:17407387|PMID:17563455|PMID:17573900|PMID:18268044|PMID:18356407|PMID:18414213|PMID:18811724|PMID:193395|PMID:19406499|PMID:20164212|PMID:20705777|PMID:21105491|PMID:21353246|PMID:21683639|PMID:22060211|PMID:22662265|PMID:22802087|PMID:23227446|PMID:23268925|PMID:23275527|PMID:23348805|PMID:23485969|PMID:23551881|PMID:23771925|PMID:24033266|PMID:24097065|PMID:24285859|PMID:24947580|PMID:25041077|PMID:25414397|PMID:25631608|PMID:25741868|PMID:25819479|PMID:26059258|PMID:26467025|PMID:26512799|PMID:26981542|PMID:27080136|PMID:27245055|PMID:27420379|PMID:27486234|PMID:27810688|PMID:27846149|PMID:27913849|PMID:28166811|PMID:28242437|PMID:28458902|PMID:28492532|PMID:28693455|PMID:28844315|PMID:28862987|PMID:29207974|PMID:29355436|PMID:29417725|PMID:29493090|PMID:29792621|PMID:29998026|PMID:30005691|PMID:30026763|PMID:30191603|PMID:30191644|PMID:30665703|PMID:30977832|PMID:31523701|PMID:31529154|PMID:31529156|PMID:31704690|PMID:31875549|PMID:31957151|PMID:32583173|PMID:34556497|PMID:34789499|PMID:34805411|PMID:35052457|PMID:35118593|PMID:36257325|PMID:9267996|PMID:9313765|PMID:9449683 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:0050770 polycystic liver disease ISO RGD:69093 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:10227563|PMID:10768098|PMID:21105491|PMID:23227446|PMID:23247789|PMID:24097065|PMID:25741868|PMID:25905084|PMID:26059258|PMID:26467025|PMID:27884173|PMID:28492532|PMID:29355436|PMID:30191603|PMID:31264968|PMID:31595705 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:0080760 Fanconi renotubular syndrome 4 ISO RGD:69093 D RGD:7240710 20180130 OMIM 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:0080760 Fanconi renotubular syndrome 4 ISO RGD:69093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: FRTS4 WITH MODY | ClinVar Annotator: match by term: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young PMID:10227563|PMID:10768098|PMID:15123688|PMID:15826954|PMID:17563455|PMID:18268044|PMID:20164212|PMID:21105491|PMID:21683639|PMID:22802087|PMID:23227446|PMID:23247789|PMID:23348805|PMID:23485969|PMID:24097065|PMID:24285859|PMID:25741868|PMID:25819479|PMID:25905084|PMID:26059258|PMID:26467025|PMID:27245055|PMID:27884173|PMID:28458902|PMID:28492532|PMID:28693455|PMID:28844315|PMID:29355436|PMID:30005691|PMID:30191603|PMID:30977832|PMID:31264968|PMID:31529154|PMID:31529156|PMID:31595705|PMID:31875549|PMID:32583173|PMID:35052457|PMID:35118593 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:69093 D RGD:7240710 20180130 OMIM 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:69093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10227563|PMID:10389854|PMID:10447526|PMID:10592235|PMID:10606640|PMID:10768098|PMID:10819248|PMID:10905494|PMID:10983627|PMID:11043869|PMID:11272211|PMID:11435618|PMID:11575290|PMID:12050210|PMID:12110948|PMID:12193589|PMID:12203996|PMID:12220494|PMID:12235114|PMID:12242469|PMID:12627330|PMID:12669197|PMID:15123688|PMID:15281001|PMID:15728204|PMID:15793260|PMID:15826954|PMID:15830177|PMID:15928245|PMID:16223942|PMID:16602010|PMID:16883527|PMID:16917892|PMID:16946562|PMID:17389749|PMID:17407387|PMID:17563455|PMID:18268044|PMID:18356407|PMID:18414213|PMID:18811724|PMID:193395|PMID:19478207|PMID:20164212|PMID:20705777|PMID:21062274|PMID:21105491|PMID:21353246|PMID:21683639|PMID:22140441|PMID:22232426|PMID:22662265|PMID:22802087|PMID:23227446|PMID:23247789|PMID:23268925|PMID:23275527|PMID:23348805|PMID:23485969|PMID:23506826|PMID:23551881|PMID:23771925|PMID:24033266|PMID:24097065|PMID:24285859|PMID:24476040|PMID:24947580|PMID:25041077|PMID:25306193|PMID:25414397|PMID:25555642|PMID:25631608|PMID:25741868|PMID:25819479|PMID:25905084|PMID:26059258|PMID:26467025|PMID:26512799|PMID:26552609|PMID:26740944|PMID:26971647|PMID:26981542|PMID:27080136|PMID:27245055|PMID:27420379|PMID:27486234|PMID:27552834|PMID:27884173|PMID:27913849|PMID:28166811|PMID:28242437|PMID:28458902|PMID:28492532|PMID:28693455|PMID:28844315|PMID:28862987|PMID:29207974|PMID:29355436|PMID:29493090|PMID:29792621|PMID:29998026|PMID:30005691|PMID:30191603|PMID:30191644|PMID:30447144|PMID:30663027|PMID:30665703|PMID:30977832|PMID:31264968|PMID:31523701|PMID:31529154|PMID:31529156|PMID:31578528|PMID:31595705|PMID:31825128|PMID:31875549|PMID:32041611|PMID:32583173|PMID:33046911|PMID:34789499|PMID:34805411|PMID:35052457|PMID:35118593|PMID:36257325|PMID:8945471|PMID:9267996|PMID:9294105|PMID:9313765|PMID:9371825|PMID:9449683|PMID:9920109 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:0111102 maturity-onset diabetes of the young type 3 ISO RGD:69093 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 3 PMID:25741868|PMID:36257325 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:1062 Fanconi syndrome ISO RGD:1550718 D RGD:9068941 20220825 MouseDO OMIM:134600 | OMIM:613388 | OMIM:615605 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:13809 familial combined hyperlipidemia ISO RGD:69093 D RGD:9068941 20200609 RGD DNA:haplotype: :rs6031558,rs745975, rs3212198(human) PMID:18340007|REF_RGD_ID:12904697 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:1686 glaucoma ISO RGD:69093 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (human) PMID:28990066|REF_RGD_ID:155630605 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:2018 hyperinsulinism ISO RGD:69093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism due to HNF4A deficiency | ClinVar Annotator: match by term: Hyperinsulinism, Dominant PMID:10983627|PMID:15793260|PMID:16883527|PMID:16917892|PMID:16946562|PMID:17563455|PMID:17573900|PMID:18268044|PMID:18811724|PMID:19406499|PMID:20164212|PMID:20705777|PMID:21353246|PMID:22662265|PMID:22802087|PMID:23348805|PMID:23485969|PMID:24033266|PMID:24285859|PMID:25741868|PMID:25819479|PMID:26467025|PMID:27245055|PMID:27846149|PMID:28458902|PMID:28492532|PMID:28693455|PMID:28844315|PMID:29493090|PMID:29998026|PMID:30005691|PMID:30977832|PMID:31523701|PMID:31529154|PMID:31529156|PMID:31875549|PMID:32583173|PMID:34789499|PMID:35052457|PMID:35118593|PMID:36257325|PMID:9267996|PMID:9313765|PMID:9449683 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:2234 focal epilepsy ISO RGD:69093 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:5082 liver cirrhosis ISO RGD:69093 D RGD:9068941 20200609 RGD protein:decreased expression:liver: PMID:20876809|REF_RGD_ID:12904747 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:630 genetic disease ISO RGD:69093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17563455|PMID:18268044|PMID:32583173|PMID:35052457|PMID:35118593 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:684 hepatocellular carcinoma ISO RGD:2810 D RGD:9068941 20200609 RGD protein:decreased expression:liver: PMID:20876809|REF_RGD_ID:12904747 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:684 hepatocellular carcinoma ISO RGD:69093 D RGD:9068941 20200609 RGD protein:decreased expression:liver: PMID:20876809|REF_RGD_ID:12904747 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:8577 ulcerative colitis ISO RGD:69093 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19915572 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:69093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9000808 Hypercholesterolemia resistance ISO RGD:69093 D RGD:9068941 20200609 RGD Finnish and Mexican populations; DNA:haplotype:CDS:SNPs rs6031558-rs745975-rs3212198, haplotype H1B (2-1-1) PMID:16804065|REF_RGD_ID:1601642 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:69093 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease PMID:10227563|PMID:10768098|PMID:21105491|PMID:23227446|PMID:23247789|PMID:24097065|PMID:25741868|PMID:25905084|PMID:26059258|PMID:26467025|PMID:27884173|PMID:28492532|PMID:29355436|PMID:30191603|PMID:31264968|PMID:31595705 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9002165 Diabetic Nephropathies ISO RGD:2810 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney, liver PMID:18184923|REF_RGD_ID:2301838 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9002231 Fetal Growth Retardation ISO RGD:69093 D RGD:9068941 20200609 RGD DNA:altered methylation:prompter: PMID:20126273|REF_RGD_ID:12904699 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9002427 Fetal Macrosomia ISO RGD:2810 D RGD:9068941 20200609 RGD PMID:19435144|REF_RGD_ID:12904767 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9002427 Fetal Macrosomia ISO RGD:69093 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:17407387|REF_RGD_ID:12904698 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9003426 Glycosuria ISO RGD:69093 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Glycosuria PMID:10983627|PMID:15793260|PMID:16883527|PMID:16946562|PMID:17573900|PMID:18811724|PMID:19406499|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27846149|PMID:28492532|PMID:9267996|PMID:9313765|PMID:9449683 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1550718 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:19179483|REF_RGD_ID:12904769 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2810 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney, liver PMID:18184923|REF_RGD_ID:2301838 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9006599 Hypertriglyceridemia ISO RGD:69093 D RGD:9068941 20200609 RGD Finnish and Mexican populations; DNA:haplotype:CDS:SNPs rs6031558-rs745975-rs3212198, haplotype H1A (1-1-2) PMID:16804065|REF_RGD_ID:1601642 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9006646 Metabolic Syndrome ISO RGD:69093 D RGD:9068941 20200609 RGD Finnish population; DNA:haplotype:CDS:SNPs rs6031558-rs745975-rs3212198, haplotype H1A (1-1-2) PMID:16804065|REF_RGD_ID:1601642 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:69093 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hyperinsulinism PMID:10227563|PMID:10447526|PMID:10768098|PMID:10983627|PMID:12669197|PMID:15281001|PMID:15793260|PMID:15928245|PMID:16883527|PMID:16946562|PMID:17563455|PMID:18268044|PMID:18414213|PMID:20164212|PMID:21105491|PMID:22140441|PMID:22232426|PMID:23227446|PMID:23247789|PMID:24033266|PMID:24097065|PMID:24476040|PMID:25041077|PMID:25631608|PMID:25741868|PMID:25905084|PMID:26059258|PMID:26467025|PMID:26512799|PMID:26740944|PMID:26981542|PMID:27080136|PMID:27420379|PMID:27884173|PMID:28492532|PMID:29207974|PMID:29355436|PMID:29792621|PMID:30191603|PMID:31264968|PMID:31595705|PMID:32583173|PMID:34805411|PMID:35052457|PMID:35118593 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9351 diabetes mellitus ISO RGD:69093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10606640|PMID:10983627|PMID:12669197|PMID:15728204|PMID:16883527|PMID:16946562|PMID:17563455|PMID:18268044|PMID:18414213|PMID:21062274|PMID:24033266|PMID:24097065|PMID:25741868|PMID:26467025|PMID:26981542|PMID:27913849|PMID:28492532|PMID:30191644|PMID:31264968|PMID:32041611|PMID:32583173|PMID:34805411|PMID:35052457|PMID:35118593|PMID:9267996 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:69093 D RGD:7240710 20180130 OMIM 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:69093 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10227563|PMID:10447526|PMID:10768098|PMID:10983627|PMID:12669197|PMID:15281001|PMID:16883527|PMID:16946562|PMID:18414213|PMID:21105491|PMID:23227446|PMID:23247789|PMID:23268925|PMID:24033266|PMID:24097065|PMID:25041077|PMID:25741868|PMID:25905084|PMID:26059258|PMID:26467025|PMID:26981542|PMID:27080136|PMID:27420379|PMID:27884173|PMID:28492532|PMID:29355436|PMID:29792621|PMID:30191603|PMID:31264968|PMID:31595705|PMID:34805411|PMID:35052457|PMID:35118593|PMID:36257325|PMID:9449683 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:69093 D RGD:9068941 20200609 RGD DNA:SNP::rs4810424 and rs3212198 nominally associated with future risk of developing T2DM (p=0.04) in individuals from the Botnia study in Finland and the Malmo project in Sweden PMID:18332101|REF_RGD_ID:2301863 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:69093 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:(human) PMID:18728231|REF_RGD_ID:2301836 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:69093 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.T130I PMID:18028455|REF_RGD_ID:2301839 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9993 hypoglycemia ISO RGD:1550718 D RGD:9068941 20200609 RGD PMID:17407387|REF_RGD_ID:12904698 11712253 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9993 hypoglycemia ISO RGD:69093 D RGD:9068941 20200609 RGD associated with Hyperinsulinemia;DNA:frameshift mutation, nonsense mutation, splice-site mutation PMID:18268044|REF_RGD_ID:2301837 11712276 MOCS3 molybdenum cofactor synthesis 3 gene DOID:0080557 congenital disorder of glycosylation Ie ISO RGD:1316006 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1E PMID:10642597|PMID:10642602|PMID:28492532 11712276 MOCS3 molybdenum cofactor synthesis 3 gene DOID:630 genetic disease ISO RGD:1316006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11712276 MOCS3 molybdenum cofactor synthesis 3 gene DOID:9008386 Hydrops Fetalis ISO RGD:1316006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 11712281 NEDD8 NEDD8 ubiquitin like modifier gene DOID:0060439 lysinuric protein intolerance ISO RGD:735521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11712281 NEDD8 NEDD8 ubiquitin like modifier gene DOID:14330 Parkinson's disease ISO RGD:735521 D RGD:9068941 20200609 RGD PMID:12533840|REF_RGD_ID:1549458 11712281 NEDD8 NEDD8 ubiquitin like modifier gene DOID:3069 malignant astrocytoma ISO RGD:735521 D RGD:9068941 20200609 RGD PMID:12533840|REF_RGD_ID:1549458 11712281 NEDD8 NEDD8 ubiquitin like modifier gene DOID:9000265 Specific Granule Deficiency ISO RGD:735521 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11712281 NEDD8 NEDD8 ubiquitin like modifier gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:735521 D RGD:9068941 20200609 RGD PMID:12533840|REF_RGD_ID:1549458 11712281 NEDD8 NEDD8 ubiquitin like modifier gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:735521 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11712289 DNAJC24 DnaJ heat shock protein family (Hsp40) member C24 gene DOID:1059 intellectual disability ISO RGD:1350551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11712289 DNAJC24 DnaJ heat shock protein family (Hsp40) member C24 gene DOID:12271 aniridia ISO RGD:1350551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 11712289 DNAJC24 DnaJ heat shock protein family (Hsp40) member C24 gene DOID:3764 Denys-Drash syndrome ISO RGD:1350551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Drash syndrome PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28492532 11712289 DNAJC24 DnaJ heat shock protein family (Hsp40) member C24 gene DOID:5419 schizophrenia ISO RGD:1350551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11712289 DNAJC24 DnaJ heat shock protein family (Hsp40) member C24 gene DOID:630 genetic disease ISO RGD:1350551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712289 DNAJC24 DnaJ heat shock protein family (Hsp40) member C24 gene DOID:9002455 Aniridia 1 ISO RGD:1350551 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aniridia 1 PMID:10737978|PMID:11284764|PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28231309|PMID:28492532 11712299 FAM120C family with sequence similarity 120C gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11712299 FAM120C family with sequence similarity 120C gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1603035 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 11712299 FAM120C family with sequence similarity 120C gene DOID:12849 autistic disorder ISO RGD:1603035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11712299 FAM120C family with sequence similarity 120C gene DOID:630 genetic disease ISO RGD:1603035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712320 KLHL10 kelch like family member 10 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1344199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:28492532|PMID:31479588 11712320 KLHL10 kelch like family member 10 gene DOID:0070180 spermatogenic failure 11 ISO RGD:1344199 D RGD:7240710 20180130 OMIM 11712320 KLHL10 kelch like family member 10 gene DOID:0070180 spermatogenic failure 11 ISO RGD:1344199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 11 PMID:17047026|PMID:25741868|PMID:28492532 11712320 KLHL10 kelch like family member 10 gene DOID:630 genetic disease ISO RGD:1344199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712339 MBOAT7 membrane bound O-acyltransferase domain containing 7 gene DOID:0081219 autosomal recessive intellectual developmental disorder 57 ISO RGD:1353967 D RGD:7240710 20190315 OMIM 11712339 MBOAT7 membrane bound O-acyltransferase domain containing 7 gene DOID:0081219 autosomal recessive intellectual developmental disorder 57 ISO RGD:1353967 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 57 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 57 PMID:24033266|PMID:25741868|PMID:27616480|PMID:31852446|PMID:33335874 11712339 MBOAT7 membrane bound O-acyltransferase domain containing 7 gene DOID:1059 intellectual disability ISO RGD:1353967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 11712339 MBOAT7 membrane bound O-acyltransferase domain containing 7 gene DOID:10908 hydrocephalus ISO RGD:1551274 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 11712339 MBOAT7 membrane bound O-acyltransferase domain containing 7 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1353967 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26482880 11712339 MBOAT7 membrane bound O-acyltransferase domain containing 7 gene DOID:630 genetic disease ISO RGD:1353967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27616480|PMID:31852446|PMID:33335874 11712353 IFI6 interferon alpha inducible protein 6 gene DOID:1470 major depressive disorder ISO RGD:1342870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29175309 11712353 IFI6 interferon alpha inducible protein 6 gene DOID:630 genetic disease ISO RGD:1342870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712353 IFI6 interferon alpha inducible protein 6 gene DOID:9001488 Human Influenza ISO RGD:1342870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11712353 IFI6 interferon alpha inducible protein 6 gene DOID:9003281 Spontaneous Abortions ISO RGD:1342870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11712364 AXL AXL receptor tyrosine kinase gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1323764 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25741868|PMID:28492532|PMID:32870266 11712364 AXL AXL receptor tyrosine kinase gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1323764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11712364 AXL AXL receptor tyrosine kinase gene DOID:1342 congenital hypoplastic anemia ISO RGD:1323764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11712364 AXL AXL receptor tyrosine kinase gene DOID:13938 amenorrhea ISO RGD:1323764 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:25741868|PMID:28492532|PMID:32870266 11712364 AXL AXL receptor tyrosine kinase gene DOID:1793 pancreatic cancer ISO RGD:1323764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26206560 11712364 AXL AXL receptor tyrosine kinase gene DOID:2340 craniosynostosis ISO RGD:1323764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11712364 AXL AXL receptor tyrosine kinase gene DOID:2921 glomerulonephritis ISO RGD:620028 D RGD:9068941 20200609 RGD PMID:11290560|REF_RGD_ID:1579882 11712364 AXL AXL receptor tyrosine kinase gene DOID:3192 neurilemmoma ISO RGD:1323764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25551830 11712364 AXL AXL receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1323764 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22751098 11712364 AXL AXL receptor tyrosine kinase gene DOID:5151 plexiform neurofibroma ISO RGD:1323764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25551830 11712364 AXL AXL receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:1323764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712364 AXL AXL receptor tyrosine kinase gene DOID:9000081 Lymphatic Metastasis ISO RGD:1323764 D RGD:9068941 20200609 RGD associated Pancreatic Neoplasms PMID:19252414|REF_RGD_ID:2325833 11712364 AXL AXL receptor tyrosine kinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1323764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26206560 11712364 AXL AXL receptor tyrosine kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11712364 AXL AXL receptor tyrosine kinase gene DOID:9002165 Diabetic Nephropathies ISO RGD:1323764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12644472 11712364 AXL AXL receptor tyrosine kinase gene DOID:9002170 Experimental Neoplasms ISO RGD:1323764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26206560 11712364 AXL AXL receptor tyrosine kinase gene DOID:9002265 Kidney Neoplasms ISO RGD:1323764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25551830 11712364 AXL AXL receptor tyrosine kinase gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1323764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11712364 AXL AXL receptor tyrosine kinase gene DOID:9002514 Neointima ISO RGD:620028 D RGD:9068941 20200609 RGD PMID:9758639|REF_RGD_ID:631894 11712364 AXL AXL receptor tyrosine kinase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1323764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26206560 11712364 AXL AXL receptor tyrosine kinase gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:1323764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 11712364 AXL AXL receptor tyrosine kinase gene DOID:9269 maple syrup urine disease ISO RGD:1323764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11712364 AXL AXL receptor tyrosine kinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1323764 D RGD:9068941 20200609 RGD PMID:10528229|REF_RGD_ID:2325834 11712389 MMD2 monocyte to macrophage differentiation associated 2 gene DOID:11372 megacolon ISO RGD:1315160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11712389 MMD2 monocyte to macrophage differentiation associated 2 gene DOID:630 genetic disease ISO RGD:1315160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712400 CNN1 calponin 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:731921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11712400 CNN1 calponin 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:731921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11712400 CNN1 calponin 1 gene DOID:0111254 glutaric acidemia I ISO RGD:731921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11712400 CNN1 calponin 1 gene DOID:3413 alpha-mannosidosis ISO RGD:731921 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11712400 CNN1 calponin 1 gene DOID:630 genetic disease ISO RGD:731921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712422 LZIC leucine zipper and CTNNBIP1 domain containing gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1319494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11712422 LZIC leucine zipper and CTNNBIP1 domain containing gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1319494 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11712422 LZIC leucine zipper and CTNNBIP1 domain containing gene DOID:0111936 immunodeficiency 14 ISO RGD:1319494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 11712422 LZIC leucine zipper and CTNNBIP1 domain containing gene DOID:3347 osteosarcoma ISO RGD:1309253 D RGD:9068941 20200609 RGD PMID:19444910|REF_RGD_ID:2314410 11712422 LZIC leucine zipper and CTNNBIP1 domain containing gene DOID:630 genetic disease ISO RGD:1319494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712433 CCDC188 coiled-coil domain containing 188 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:10400964 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 11712433 CCDC188 coiled-coil domain containing 188 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:10400964 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 11712433 CCDC188 coiled-coil domain containing 188 gene DOID:11198 DiGeorge syndrome ISO RGD:10400964 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome 11712433 CCDC188 coiled-coil domain containing 188 gene DOID:12583 velocardiofacial syndrome ISO RGD:10400964 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 11712433 CCDC188 coiled-coil domain containing 188 gene DOID:12849 autistic disorder ISO RGD:10400964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11712433 CCDC188 coiled-coil domain containing 188 gene DOID:5419 schizophrenia ISO RGD:10400964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11712433 CCDC188 coiled-coil domain containing 188 gene DOID:9007661 Dwarfism ISO RGD:10400964 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11712450 CCSER1 coiled-coil serine rich protein 1 gene DOID:13938 amenorrhea ISO RGD:1602258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11712450 CCSER1 coiled-coil serine rich protein 1 gene DOID:630 genetic disease ISO RGD:1602258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712450 CCSER1 coiled-coil serine rich protein 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1602258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 11712513 PRKRIP1 PRKR interacting protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11712513 PRKRIP1 PRKR interacting protein 1 gene DOID:630 genetic disease ISO RGD:1316893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712524 SCN7A sodium voltage-gated channel alpha subunit 7 gene DOID:12849 autistic disorder ISO RGD:1601888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18621663 11712524 SCN7A sodium voltage-gated channel alpha subunit 7 gene DOID:630 genetic disease ISO RGD:1601888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11712554 TNRC6B trinucleotide repeat containing adaptor 6B gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1350349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11712554 TNRC6B trinucleotide repeat containing adaptor 6B gene DOID:0060041 autism spectrum disorder ISO RGD:1350349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30504930 11712554 TNRC6B trinucleotide repeat containing adaptor 6B gene DOID:0070052 autosomal dominant intellectual developmental disorder 22 ISO RGD:1350349 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 22 PMID:25741868 11712554 TNRC6B trinucleotide repeat containing adaptor 6B gene DOID:11612 polycystic ovary syndrome ISO RGD:1350349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11712554 TNRC6B trinucleotide repeat containing adaptor 6B gene DOID:13223 uterine fibroid severity ISO RGD:1350349 D RGD:9068941 20200609 RGD DNA:SNP: :rs12484776(human) PMID:23892540|REF_RGD_ID:14394614 11712554 TNRC6B trinucleotide repeat containing adaptor 6B gene DOID:13560 subserous uterine fibroid severity ISO RGD:1350349 D RGD:9068941 20200609 RGD DNA:SNP: :rs12484776(human) PMID:23892540|REF_RGD_ID:14394614 11712554 TNRC6B trinucleotide repeat containing adaptor 6B gene DOID:630 genetic disease ISO RGD:1350349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712554 TNRC6B trinucleotide repeat containing adaptor 6B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350349 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32152250 11712554 TNRC6B trinucleotide repeat containing adaptor 6B gene DOID:9004585 GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES ISO RGD:1350349 D RGD:7240710 20210519 OMIM 11712554 TNRC6B trinucleotide repeat containing adaptor 6B gene DOID:9004585 GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES ISO RGD:1350349 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay with speech and behavioral abnormalities PMID:25741868|PMID:29463886|PMID:32152250|PMID:33004838 11712554 TNRC6B trinucleotide repeat containing adaptor 6B gene DOID:9008086 Developmental Disabilities ISO RGD:1350349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11712554 TNRC6B trinucleotide repeat containing adaptor 6B gene DOID:9009097 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies ISO RGD:1350349 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies PMID:25741868 11712582 TMEM190 transmembrane protein 190 gene DOID:630 genetic disease ISO RGD:1604743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:0050127 sinusitis ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18391768 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:0050563 nonsyndromic deafness ISO RGD:70824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive PMID:25941349 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased expression:tongue: PMID:20848408|REF_RGD_ID:8548612 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:0050866 oral squamous cell carcinoma ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased expression, altered expression:mouth mucosa: PMID:20662906|REF_RGD_ID:8548617 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:0060041 autism spectrum disorder ISO RGD:10894 D RGD:9068941 20220825 MouseDO 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:0060041 autism spectrum disorder ISO RGD:70824 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:0070322 childhood hepatocellular carcinoma ISO RGD:70824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pediatric hepatocellular carcinoma PMID:17483355|PMID:9927037 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:0080208 non-alcoholic fatty liver disease disease_progression ISO RGD:10894 D RGD:9068941 20200609 RGD PMID:24845607|REF_RGD_ID:14694829 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:70824 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital disorders of glycosylation type II PMID:26833332|PMID:28492532 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:0110539 autosomal recessive nonsyndromic deafness 97 ISO RGD:70824 D RGD:7240710 20180130 OMIM 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:0110539 autosomal recessive nonsyndromic deafness 97 ISO RGD:70824 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 97 PMID:21774103|PMID:21970370|PMID:22703879|PMID:24728327|PMID:25741868|PMID:25941349|PMID:26467025|PMID:27696107|PMID:28259294|PMID:28492532|PMID:29641532 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:0110909 inflammatory bowel disease 25 ISO RGD:70824 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 25, early onset, autosomal recessive PMID:25741868|PMID:28492532 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:0111596 distal arthrogryposis type 1 ISO RGD:70824 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I PMID:30777867 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:70824 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:30777867 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:10286 prostate carcinoma disease_progression ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased expression:primary tumor, metastatic carcinoma (human) PMID:7639332|REF_RGD_ID:2317554 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:1059 intellectual disability ISO RGD:70824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:22703879|PMID:25741868|PMID:28492532|PMID:9140397 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:10894 D RGD:9068941 20220825 MouseDO OMIM:137580 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:1115 sarcoma ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased expression:tumor (human) PMID:7693339|REF_RGD_ID:2317532 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:11714 gestational diabetes ISO RGD:10894 D RGD:9068941 20220825 MouseDO 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:12236 primary biliary cholangitis severity ISO RGD:10894 D RGD:9068941 20200609 RGD PMID:19208365|REF_RGD_ID:14694826 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:12849 autistic disorder ISO RGD:70824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism, susceptibility to, 9 PMID:17053076 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:14566 disease of cellular proliferation ISO RGD:70824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:10417759|PMID:10433944|PMID:1104268|PMID:11750879|PMID:11927612|PMID:12460923|PMID:14559814|PMID:15371818|PMID:16189274|PMID:17483355|PMID:18564920|PMID:20670955|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25605252|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26467025|PMID:27153395|PMID:28492532|PMID:28619094|PMID:29202410|PMID:32934698|PMID:9140397|PMID:9326629|PMID:9826708|PMID:9927037 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:1561 cognitive disorder ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20080979 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:1612 breast cancer ISO RGD:10894 D RGD:9068941 20220825 MouseDO OMIM:114480 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:1749 squamous cell carcinoma ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22948846 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:1790 malignant mesothelioma ISO RGD:70824 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:1793 pancreatic cancer ISO RGD:3082 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (rat) PMID:9211490|REF_RGD_ID:2317613 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:1793 pancreatic cancer severity ISO RGD:70824 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (human) PMID:15448002|REF_RGD_ID:2317235 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:1909 melanoma ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29426936 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:2349 arteriosclerosis ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased expression:femoral artery, atherosclerotic lesions (human) PMID:17405187|REF_RGD_ID:2317493 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:2394 ovarian cancer ISO RGD:70824 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532|PMID:28873162 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:299 adenocarcinoma ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20934974|PMID:22042947 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:3008 invasive ductal carcinoma severity ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased expression:tumor (human) PMID:10590366|REF_RGD_ID:2317607 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:3021 acute kidney failure ISO RGD:3082 D RGD:9068941 20200609 RGD protein:increased expression:renal parenchyma (rat) PMID:17940345|REF_RGD_ID:2317469 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:305 carcinoma ISO RGD:70824 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12460923|PMID:14559814|PMID:15371818|PMID:15485908|PMID:17483355|PMID:21400509|PMID:21642981|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23610116|PMID:23806086|PMID:24088041|PMID:24121490|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25605252|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26467025|PMID:28492532|PMID:29202410|PMID:32934698|PMID:9024657|PMID:9140397|PMID:9326629|PMID:9826708 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:3068 glioblastoma ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22162573 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:3069 malignant astrocytoma ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11223164 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:3070 high grade glioma ISO RGD:3082 D RGD:9068941 20200609 RGD protein:increased expression:brain, glioma (rat) PMID:18194445|REF_RGD_ID:2317467 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:3347 osteosarcoma ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22235915 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:3459 breast carcinoma ISO RGD:70824 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Carcinoma of breast PMID:21774103|PMID:21970370|PMID:25741868|PMID:28259294|PMID:28492532|PMID:29641532 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:3587 pancreatic ductal carcinoma ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic duct (human) PMID:7866999|REF_RGD_ID:2317530 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:3827 congenital diaphragmatic hernia ISO RGD:70824 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Agenesis of hemidiaphragm PMID:1104268|PMID:14559814|PMID:17483355|PMID:21970370|PMID:22703879|PMID:23806086|PMID:24088041|PMID:24728327|PMID:25605252|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26467025|PMID:28492532|PMID:32934698 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:3905 lung carcinoma ISO RGD:70824 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:26637977|PMID:26892698 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:3907 lung squamous cell carcinoma ISO RGD:70824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21623265|PMID:21815704|PMID:22787409|PMID:24688052 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:70824 D RGD:9068941 20200609 RGD PMID:24092988|REF_RGD_ID:13434906 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:4450 renal cell carcinoma ISO RGD:70824 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24728327|PMID:25157968|PMID:25394175|PMID:25605252|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28166811|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29360161|PMID:29641532|PMID:30093976|PMID:30530636|PMID:32934698|PMID:33588785|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:4450 renal cell carcinoma ISO RGD:70824 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24728327|PMID:25157968|PMID:25394175|PMID:25605252|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26700204|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28166811|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29202410|PMID:29360161|PMID:29641532|PMID:29684080|PMID:30093976|PMID:30530636|PMID:32091409|PMID:32830346|PMID:32934698|PMID:33588785|PMID:33606809|PMID:34646395|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:4450 renal cell carcinoma ISO RGD:70824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma with paraneoplastic erythrocytosis | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19459657|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25394175|PMID:25605252|PMID:25636233|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26700204|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:28961830|PMID:29084058|PMID:29202410|PMID:29219214|PMID:29360161|PMID:29641532|PMID:29684080|PMID:29978187|PMID:30093976|PMID:30530636|PMID:32091409|PMID:32830346|PMID:32934698|PMID:33255238|PMID:33588785|PMID:33606809|PMID:34646395|PMID:34882875|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:4450 renal cell carcinoma ISO RGD:70824 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19459657|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25394175|PMID:25605252|PMID:25636233|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26700204|PMID:26718692|PMID:26833332|PMID:26887047|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:28961830|PMID:28975465|PMID:29084058|PMID:29202410|PMID:29219214|PMID:29360161|PMID:29641532|PMID:29684080|PMID:29978187|PMID:30093976|PMID:30530636|PMID:32091409|PMID:32830346|PMID:32934698|PMID:33255238|PMID:33588785|PMID:33606809|PMID:34646395|PMID:34882875|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:4451 renal carcinoma ISO RGD:70824 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Renal carcinoma PMID:10327054|PMID:10433944|PMID:11354004|PMID:11750879|PMID:15485908|PMID:17483355|PMID:18829470|PMID:21400509|PMID:21642981|PMID:23213094|PMID:23610116|PMID:24121490|PMID:25157968|PMID:28492532|PMID:29202410|PMID:9024657|PMID:9140397|PMID:9326629|PMID:9563489|PMID:9731534|PMID:9826708 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:4465 papillary renal cell carcinoma ISO RGD:70824 D RGD:7240710 20180919 OMIM 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:4465 papillary renal cell carcinoma ISO RGD:70824 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19723643|PMID:20126411|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21970370|PMID:22703879|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24339735|PMID:24728327|PMID:25157968|PMID:25605252|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:28166811|PMID:28259294|PMID:28294470|PMID:28492532|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29360161|PMID:29641532|PMID:30093976|PMID:30530636|PMID:32934698|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:4465 papillary renal cell carcinoma ISO RGD:70824 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19723643|PMID:20126411|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21970370|PMID:22703879|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24339735|PMID:24728327|PMID:25157968|PMID:25605252|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:28166811|PMID:28259294|PMID:28294470|PMID:28476232|PMID:28492532|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29360161|PMID:29641532|PMID:30093976|PMID:30530636|PMID:32934698|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:4465 papillary renal cell carcinoma ISO RGD:70824 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16434318|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19723643|PMID:20126411|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21970370|PMID:22703879|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24339735|PMID:24728327|PMID:25157968|PMID:25605252|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:28166811|PMID:28259294|PMID:28294470|PMID:28476232|PMID:28492532|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29202410|PMID:29360161|PMID:29641532|PMID:29684080|PMID:30093976|PMID:30530636|PMID:32934698|PMID:33255238|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:4552 large cell carcinoma severity ISO RGD:70824 D RGD:9068941 20200609 RGD PMID:20019837|REF_RGD_ID:2317441 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:70824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:3082 D RGD:9068941 20200609 RGD protein:increased expression:liver, biliary epithelium (rat) PMID:14656942|REF_RGD_ID:2317601 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver, carcinoma (human) PMID:16818635|REF_RGD_ID:2317578 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:4977 lymphedema ISO RGD:70824 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Lymphoedema PMID:18564920|PMID:24339735|PMID:24728327|PMID:25637381|PMID:25741868|PMID:28492532|PMID:30530636 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:4989 pancreatitis ISO RGD:3082 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (rat) PMID:11737224|REF_RGD_ID:2317606 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:5419 schizophrenia ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20080979 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:5577 gastrinoma severity ISO RGD:70824 D RGD:9068941 20200609 RGD associated with Zollinger-Ellison Syndrome; mRNA:increased expression:tumor (human) PMID:12114431|REF_RGD_ID:2317605 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:70824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:684 hepatocellular carcinoma ISO RGD:70824 D RGD:7240710 20180130 OMIM 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:684 hepatocellular carcinoma ISO RGD:70824 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA PMID:14559814|PMID:15735036|PMID:16189274|PMID:17483355|PMID:18564920|PMID:19318576|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21970370|PMID:22703879|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26718692|PMID:27153395|PMID:28259294|PMID:28492532|PMID:28619094|PMID:29641532 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:684 hepatocellular carcinoma severity ISO RGD:70824 D RGD:9068941 20220630 RGD protein:increased expression:liver (human) PMID:29303510|REF_RGD_ID:152995524 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:687 hepatoblastoma ISO RGD:70824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:27666373|PMID:28492532 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:769 neuroblastoma ISO RGD:70824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26822237 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:824 periodontitis ISO RGD:3082 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:gingival pocket (rat) PMID:16827730|REF_RGD_ID:2317520 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:8567 Hodgkin's lymphoma ISO RGD:70824 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Classic Hodgkin lymphoma PMID:1104268|PMID:14559814|PMID:17483355|PMID:21970370|PMID:22703879|PMID:23806086|PMID:24088041|PMID:24728327|PMID:25605252|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26467025|PMID:28492532|PMID:32934698 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9000011 Gallbladder Neoplasms severity ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased expression:gallbladder (human) PMID:19956499|REF_RGD_ID:2317582 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9000039 Spinal Cord Injuries ISO RGD:3082 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord (rat) PMID:17549731|REF_RGD_ID:2317487 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9000081 Lymphatic Metastasis ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29426936 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9000117 Esophageal Neoplasms ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22042947 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9000217 Stomach Neoplasms ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22042947|PMID:22729845 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9000722 Animal Hepatitis ISO RGD:3082 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:8781331|REF_RGD_ID:2317559 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20080979|PMID:21225626 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:70824 D RGD:9068941 20200609 RGD associated with Squamous Cell Carcinoma of the Tongue; PMID:22704061|REF_RGD_ID:8548616 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9001472 Nasal Polyps ISO RGD:70824 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:nasal cavity mucosa: PMID:16982975|REF_RGD_ID:8548613 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3082 D RGD:9068941 20200609 RGD protein:decreased expression:liver (rat) PMID:16958060|REF_RGD_ID:2317516 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11956651 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9002127 Osteofibrous Dysplasia ISO RGD:70824 D RGD:7240710 20230505 OMIM 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9002127 Osteofibrous Dysplasia ISO RGD:70824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteofibrous dysplasia | ClinVar Annotator: match by term: TIBIA, BOWING OF, WITH PSEUDARTHROSIS AND PECTUS EXCAVATUM | ClinVar Annotator: match by term: Tibia, bowing of, with pseudarthrosis and pectus excavatum PMID:11042681|PMID:1270474|PMID:12920089|PMID:14559814|PMID:15592501|PMID:16203897|PMID:21774103|PMID:21970370|PMID:22703879|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26637977|PMID:28259294|PMID:28492532|PMID:28975465|PMID:29641532|PMID:32830346|PMID:9234973 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9002242 Distal Arthrogryposis Type 11 ISO RGD:70824 D RGD:7240710 20220831 OMIM 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9002242 Distal Arthrogryposis Type 11 ISO RGD:70824 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 11 PMID:30777867 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9002265 Kidney Neoplasms ISO RGD:70824 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple (human) PMID:9140397|REF_RGD_ID:1600122 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9002762 Ovarian Neoplasms ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20661229 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9002936 Bile Duct Neoplasms ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased expression:intrahepatic bile duct (human) PMID:15892172|REF_RGD_ID:2317585 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9003936 Cardiomegaly ISO RGD:3082 D RGD:9068941 20200609 RGD protein:increased expression:ventricle (rat) PMID:10489112|REF_RGD_ID:2317547 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9004009 Reperfusion Injury ISO RGD:3082 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (rat) PMID:17113948|REF_RGD_ID:2317505 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9004217 Nerve Sheath Neoplasms disease_progression ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased expression:tumor (human) PMID:9308731|REF_RGD_ID:2317564 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15654357 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9004590 Acute Liver Failure ISO RGD:3082 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:17009398|REF_RGD_ID:2317515 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9005172 Lung Neoplasms ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20934974 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9005369 Hepatomegaly ISO RGD:70824 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3082 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney, tubule, epithelium (rat) PMID:8997394|REF_RGD_ID:2317555 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9006205 Animal Disease Models ISO RGD:70824 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9006599 Hypertriglyceridemia ISO RGD:70824 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:70824 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19459657|PMID:19723643|PMID:20126411|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24339735|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25605252|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26718692|PMID:26833332|PMID:26887047|PMID:27153395|PMID:27666373|PMID:28259294|PMID:28294470|PMID:28476232|PMID:28492532|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29202410|PMID:29360161|PMID:29641532|PMID:29684080|PMID:30093976|PMID:30530636|PMID:32934698|PMID:33255238|PMID:34882875|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70824 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21904579|PMID:21970370|PMID:22703879|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24728327|PMID:25394175|PMID:25605252|PMID:25637381|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28166811|PMID:28259294|PMID:28294470|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:29324814|PMID:29641532|PMID:30093976|PMID:32934698|PMID:33588785|PMID:9140397|PMID:9326629|PMID:9536098 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19459657|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25394175|PMID:25605252|PMID:25636233|PMID:25637381|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26637977|PMID:26700204|PMID:26718692|PMID:26887047|PMID:26892698|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29202410|PMID:29324814|PMID:29360161|PMID:29641532|PMID:29684080|PMID:30093976|PMID:30530636|PMID:32091409|PMID:32830346|PMID:32934698|PMID:33255238|PMID:33588785|PMID:33606809|PMID:34646395|PMID:34882875|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70824 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15485908|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19459657|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21400509|PMID:21642981|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23610116|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25394175|PMID:25605252|PMID:25636233|PMID:25637381|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26637977|PMID:26700204|PMID:26718692|PMID:26887047|PMID:26892698|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:28975465|PMID:29084058|PMID:29202410|PMID:29324814|PMID:29360161|PMID:29641532|PMID:29684080|PMID:29978187|PMID:30093976|PMID:30530636|PMID:32091409|PMID:32830346|PMID:32934698|PMID:33255238|PMID:33588785|PMID:33606809|PMID:34646395|PMID:34882875|PMID:9024657|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9007702 Carcinogenesis ISO RGD:70824 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9007715 Endometrial Neoplasms ISO RGD:3082 D RGD:9068941 20200609 RGD DNA:amplification PMID:11719459|REF_RGD_ID:70557 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9008105 Cystic, Mucinous, and Serous Neoplasms ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, liver, epithelium (human) PMID:18208800|REF_RGD_ID:2317574 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9008443 Colorectal Neoplasms ISO RGD:70824 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:colon mucosa (human) PMID:9815967|REF_RGD_ID:2317534 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9008510 Chronic Hepatitis ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9008510 Chronic Hepatitis severity ISO RGD:70824 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:8778194|REF_RGD_ID:14694827 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9119 acute myeloid leukemia ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22683780 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:916 liver benign neoplasm onset ISO RGD:3082 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:neoplastic liver (rat) PMID:11956651|REF_RGD_ID:2317546 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9256 colorectal cancer ISO RGD:70824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9452 fatty liver disease ISO RGD:70824 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 11712589 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9538 multiple myeloma ISO RGD:70824 D RGD:9068941 20200609 RGD PMID:11830493|REF_RGD_ID:2317526 11712617 PLA2G2E phospholipase A2 group IIE gene DOID:0060369 Parkinson's disease 6 ISO RGD:1320041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11712617 PLA2G2E phospholipase A2 group IIE gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1320041 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11712617 PLA2G2E phospholipase A2 group IIE gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1320041 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11712617 PLA2G2E phospholipase A2 group IIE gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1320041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11712617 PLA2G2E phospholipase A2 group IIE gene DOID:630 genetic disease ISO RGD:1320041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712617 PLA2G2E phospholipase A2 group IIE gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1320041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11712627 P4HA2 prolyl 4-hydroxylase subunit alpha 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1320142 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11712627 P4HA2 prolyl 4-hydroxylase subunit alpha 2 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1320142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:20574985|PMID:28492532 11712627 P4HA2 prolyl 4-hydroxylase subunit alpha 2 gene DOID:5419 schizophrenia ISO RGD:1320142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11712627 P4HA2 prolyl 4-hydroxylase subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1320142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712627 P4HA2 prolyl 4-hydroxylase subunit alpha 2 gene DOID:9000065 Myopia 25, Autosomal Dominant ISO RGD:1320142 D RGD:7240710 20190315 OMIM 11712627 P4HA2 prolyl 4-hydroxylase subunit alpha 2 gene DOID:9000065 Myopia 25, Autosomal Dominant ISO RGD:1320142 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopia 25, autosomal dominant PMID:25741866|PMID:25741868|PMID:28492532 11712627 P4HA2 prolyl 4-hydroxylase subunit alpha 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11712627 P4HA2 prolyl 4-hydroxylase subunit alpha 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320142 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11712661 APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 gene DOID:0060857 septooptic dysplasia ISO RGD:1607055 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence PMID:28492532|PMID:32796691 11712661 APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 gene DOID:0111111 maturity-onset diabetes of the young type 14 ISO RGD:1607055 D RGD:7240710 20180130 OMIM 11712661 APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 gene DOID:0111111 maturity-onset diabetes of the young type 14 ISO RGD:1607055 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 14 PMID:25741868|PMID:26073777|PMID:28492532 11712661 APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 gene DOID:630 genetic disease ISO RGD:1607055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11712661 APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1607055 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11712661 APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1607055 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 11712691 ADGRE1 adhesion G protein-coupled receptor E1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1342649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11712691 ADGRE1 adhesion G protein-coupled receptor E1 gene DOID:630 genetic disease ISO RGD:1342649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712691 ADGRE1 adhesion G protein-coupled receptor E1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11712720 RSL1D1 ribosomal L1 domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1350657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11712720 RSL1D1 ribosomal L1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1350657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712750 LOC103783978 cytochrome c oxidase subunit 6A1, mitochondrial gene DOID:0110203 Charcot-Marie-Tooth disease recessive intermediate D ISO RGD:735899 D RGD:7240710 20180130 OMIM 11712750 LOC103783978 cytochrome c oxidase subunit 6A1, mitochondrial gene DOID:0110203 Charcot-Marie-Tooth disease recessive intermediate D ISO RGD:735899 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate D PMID:25152455|PMID:25741868|PMID:26302975|PMID:28492532 11712750 LOC103783978 cytochrome c oxidase subunit 6A1, mitochondrial gene DOID:574 peripheral nervous system disease ISO RGD:735899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:16199547|PMID:28492532 11712750 LOC103783978 cytochrome c oxidase subunit 6A1, mitochondrial gene DOID:630 genetic disease ISO RGD:735899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11712750 LOC103783978 cytochrome c oxidase subunit 6A1, mitochondrial gene DOID:870 neuropathy ISO RGD:735899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:16199547|PMID:28492532 11712796 FTSJ3 FtsJ RNA 2'-O-methyltransferase 3 gene DOID:630 genetic disease ISO RGD:1316109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712837 CFAP20 cilia and flagella associated protein 20 gene DOID:0050572 cone-rod dystrophy ISO RGD:1605686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:25741868|PMID:35246562 11712837 CFAP20 cilia and flagella associated protein 20 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605686 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11712837 CFAP20 cilia and flagella associated protein 20 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605686 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11712837 CFAP20 cilia and flagella associated protein 20 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605686 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11712837 CFAP20 cilia and flagella associated protein 20 gene DOID:630 genetic disease ISO RGD:1605686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712837 CFAP20 cilia and flagella associated protein 20 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1605686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11712850 RWDD1 RWD domain containing 1 gene DOID:0060163 body dysmorphic disorder ISO RGD:732573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 11712850 RWDD1 RWD domain containing 1 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:732573 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 11712850 RWDD1 RWD domain containing 1 gene DOID:1059 intellectual disability ISO RGD:732573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 11712850 RWDD1 RWD domain containing 1 gene DOID:10907 microcephaly ISO RGD:732573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 11712850 RWDD1 RWD domain containing 1 gene DOID:1826 epilepsy ISO RGD:732573 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11712850 RWDD1 RWD domain containing 1 gene DOID:630 genetic disease ISO RGD:732573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712850 RWDD1 RWD domain containing 1 gene DOID:9000495 Tremor ISO RGD:732573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 11712867 SLC9B1 solute carrier family 9 member B1 gene DOID:0060224 atrial fibrillation ISO RGD:1605279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11712867 SLC9B1 solute carrier family 9 member B1 gene DOID:0110630 Wolfram syndrome 2 ISO RGD:1605279 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolfram syndrome 2 PMID:10739754|PMID:17846994|PMID:25056293|PMID:25741868|PMID:28492532 11712867 SLC9B1 solute carrier family 9 member B1 gene DOID:3633 beta-mannosidosis ISO RGD:1605279 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 11712867 SLC9B1 solute carrier family 9 member B1 gene DOID:630 genetic disease ISO RGD:1605279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712887 ETS1 ETS proto-oncogene 1, transcription factor gene DOID:0111723 Jacobsen Syndrome ISO RGD:737031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11712887 ETS1 ETS proto-oncogene 1, transcription factor gene DOID:10608 celiac disease ISO RGD:737031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 11712887 ETS1 ETS proto-oncogene 1, transcription factor gene DOID:5419 schizophrenia ISO RGD:737031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11712887 ETS1 ETS proto-oncogene 1, transcription factor gene DOID:630 genetic disease ISO RGD:737031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712887 ETS1 ETS proto-oncogene 1, transcription factor gene DOID:9004009 Reperfusion Injury ISO RGD:737031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 11712887 ETS1 ETS proto-oncogene 1, transcription factor gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:737031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11712887 ETS1 ETS proto-oncogene 1, transcription factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2583 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:17622743|REF_RGD_ID:2313849 11712887 ETS1 ETS proto-oncogene 1, transcription factor gene DOID:9007364 Mouth Neoplasms disease_progression ISO RGD:2583 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression: PMID:17708355|REF_RGD_ID:2303822 11712887 ETS1 ETS proto-oncogene 1, transcription factor gene DOID:9007661 Dwarfism ISO RGD:737031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11712887 ETS1 ETS proto-oncogene 1, transcription factor gene DOID:9074 systemic lupus erythematosus ISO RGD:737031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838193 11712887 ETS1 ETS proto-oncogene 1, transcription factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:10554 D RGD:9068941 20200609 RGD protein:increased expression:nucleus PMID:19225563|REF_RGD_ID:2313847 11712887 ETS1 ETS proto-oncogene 1, transcription factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:737031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 11712887 ETS1 ETS proto-oncogene 1, transcription factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:737031 D RGD:9068941 20200609 RGD protein:increased expression:nucleus PMID:19225563|REF_RGD_ID:2313847 11712887 ETS1 ETS proto-oncogene 1, transcription factor gene DOID:9744 type 1 diabetes mellitus ISO RGD:737031 D RGD:9068941 20200609 RGD PMID:1982251|REF_RGD_ID:2313850 11712887 ETS1 ETS proto-oncogene 1, transcription factor gene DOID:9744 type 1 diabetes mellitus ISO RGD:737031 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:1686010|REF_RGD_ID:2313901 11712912 ZRANB1 zinc finger RANBP2-type containing 1 gene DOID:630 genetic disease ISO RGD:1318817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712926 SNX1 sorting nexin 1 gene DOID:0110935 nemaline myopathy 6 ISO RGD:68962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11712926 SNX1 sorting nexin 1 gene DOID:2717 Bloom syndrome ISO RGD:68962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11712926 SNX1 sorting nexin 1 gene DOID:630 genetic disease ISO RGD:68962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712926 SNX1 sorting nexin 1 gene DOID:9256 colorectal cancer ISO RGD:68962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11712945 EPHA10 EPH receptor A10 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1347579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11712945 EPHA10 EPH receptor A10 gene DOID:630 genetic disease ISO RGD:1347579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712945 EPHA10 EPH receptor A10 gene DOID:9002506 Autosomal Dominant Nonsyndromic Deafness 88 ISO RGD:1347579 D RGD:7240710 20230505 OMIM 11712975 SESN1 sestrin 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1316757 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 11712975 SESN1 sestrin 1 gene DOID:630 genetic disease ISO RGD:1316757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712998 ASIP agouti signaling protein gene DOID:0080177 hepatic veno-occlusive disease ISO RGD:69200 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:32937126 11712998 ASIP agouti signaling protein gene DOID:10123 pigmentation disease ISO RGD:69200 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:32937126|PMID:8146154 11712998 ASIP agouti signaling protein gene DOID:14566 disease of cellular proliferation ISO RGD:69200 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1473152 11712998 ASIP agouti signaling protein gene DOID:161 keratosis ISO RGD:69200 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:32937126 11712998 ASIP agouti signaling protein gene DOID:1909 melanoma ISO RGD:69199 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18488027|PMID:18641652|PMID:21983785 11712998 ASIP agouti signaling protein gene DOID:2513 basal cell carcinoma ISO RGD:69199 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18488027 11712998 ASIP agouti signaling protein gene DOID:2723 dermatitis ISO RGD:69200 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:32937126 11712998 ASIP agouti signaling protein gene DOID:2843 long QT syndrome ISO RGD:69199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11712998 ASIP agouti signaling protein gene DOID:630 genetic disease ISO RGD:69199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11712998 ASIP agouti signaling protein gene DOID:9000197 Edema ISO RGD:69200 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:32937126 11712998 ASIP agouti signaling protein gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:69200 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:32937126 11712998 ASIP agouti signaling protein gene DOID:9001276 Failure to Thrive ISO RGD:69200 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:32937126 11712998 ASIP agouti signaling protein gene DOID:9002053 Furunculosis ISO RGD:69200 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:32937126 11712998 ASIP agouti signaling protein gene DOID:9002221 Hyperplasia ISO RGD:69200 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:32937126 11712998 ASIP agouti signaling protein gene DOID:9004464 Skin Neoplasms ISO RGD:69199 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18488027 11712998 ASIP agouti signaling protein gene DOID:9007188 Liver Neoplasms ISO RGD:69200 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15175105 11712998 ASIP agouti signaling protein gene DOID:9008294 Skin/Hair/Eye Pigmentation, Variation In, 9 ISO RGD:69199 D RGD:7240710 20221214 OMIM 11712998 ASIP agouti signaling protein gene DOID:9008294 Skin/Hair/Eye Pigmentation, Variation In, 9 ISO RGD:69199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR PMID:11833005|PMID:18488028 11712998 ASIP agouti signaling protein gene DOID:9351 diabetes mellitus ISO RGD:69200 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1473152 11712998 ASIP agouti signaling protein gene DOID:9351 diabetes mellitus ISO RGD:69200 D RGD:9068941 20200609 RGD associated with Obesity;DNA:mutation (mouse) PMID:10426381|REF_RGD_ID:2314006 11712998 ASIP agouti signaling protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:69199 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue PMID:14633851|REF_RGD_ID:2313999 11712998 ASIP agouti signaling protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:69200 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8146154 11712998 ASIP agouti signaling protein gene DOID:9970 obesity ISO RGD:69200 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:1473152|PMID:25447408|PMID:25448685|PMID:32937126|PMID:8146154 11712998 ASIP agouti signaling protein gene DOID:9970 obesity susceptibility ISO RGD:69200 D RGD:9068941 20200609 RGD DNA, mRNA:deletion, insertions, increased expression: multiple organs PMID:7987393|REF_RGD_ID:1625724 11713005 LOC100976584 histone H4 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1346703 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 11713005 LOC100976584 histone H4 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1346703 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 11713005 LOC100976584 histone H4 gene DOID:630 genetic disease ISO RGD:1346703 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713022 SNX9 sorting nexin 9 gene DOID:10348 blepharophimosis ISO RGD:1353452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis PMID:24674232 11713022 SNX9 sorting nexin 9 gene DOID:630 genetic disease ISO RGD:1353452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713043 MAGED2 MAGE family member D2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:734427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11713043 MAGED2 MAGE family member D2 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:734427 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 11713043 MAGED2 MAGE family member D2 gene DOID:0110147 Bartter disease type 5 ISO RGD:734427 D RGD:7240710 20200610 OMIM 11713043 MAGED2 MAGE family member D2 gene DOID:0110147 Bartter disease type 5 ISO RGD:734427 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bartter disease type 5 PMID:25741868|PMID:27120771|PMID:28492532|PMID:29146702 11713043 MAGED2 MAGE family member D2 gene DOID:12849 autistic disorder ISO RGD:734427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11713043 MAGED2 MAGE family member D2 gene DOID:2785 Dandy-Walker syndrome ISO RGD:734427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome 11713043 MAGED2 MAGE family member D2 gene DOID:630 genetic disease ISO RGD:734427 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11713067 PNPT1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0050974 spinocerebellar ataxia type 25 ISO RGD:1317494 D RGD:7240710 20220720 OMIM 11713067 PNPT1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0050974 spinocerebellar ataxia type 25 ISO RGD:1317494 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 25 PMID:11080643|PMID:14705117|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26633545|PMID:28492532|PMID:30046113|PMID:30831263|PMID:31752325|PMID:32313153|PMID:35411967 11713067 PNPT1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0110521 autosomal recessive nonsyndromic deafness 70 ISO RGD:1317494 D RGD:7240710 20180130 OMIM 11713067 PNPT1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0110521 autosomal recessive nonsyndromic deafness 70 ISO RGD:1317494 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 70 PMID:11080643|PMID:23084290|PMID:23084291|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26467025|PMID:26633545|PMID:27759031|PMID:28492532|PMID:28594066|PMID:28708278|PMID:30046113|PMID:30244537|PMID:30831263|PMID:31752325|PMID:32313153 11713067 PNPT1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0111467 combined oxidative phosphorylation deficiency 13 ISO RGD:1317494 D RGD:7240710 20180130 OMIM 11713067 PNPT1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0111467 combined oxidative phosphorylation deficiency 13 ISO RGD:1317494 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 13 PMID:11080643|PMID:23084291|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26633545|PMID:27759031|PMID:28492532|PMID:28594066|PMID:28645153|PMID:30046113|PMID:30244537|PMID:30831263|PMID:31752325|PMID:32313153|PMID:33158637|PMID:33199448|PMID:33812062 11713067 PNPT1 polyribonucleotide nucleotidyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:1317494 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11713067 PNPT1 polyribonucleotide nucleotidyltransferase 1 gene DOID:630 genetic disease ISO RGD:1317494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11080643|PMID:23084291|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26633545|PMID:27759031|PMID:28492532|PMID:28645153|PMID:30046113|PMID:30831263|PMID:31752325|PMID:32313153 11713067 PNPT1 polyribonucleotide nucleotidyltransferase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1317494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11713067 PNPT1 polyribonucleotide nucleotidyltransferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:11080643|PMID:25326635|PMID:25457163|PMID:25741868|PMID:28492532|PMID:30046113|PMID:30831263|PMID:31752325|PMID:32313153 11713067 PNPT1 polyribonucleotide nucleotidyltransferase 1 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1317494 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:c.1424A>G(p.E475G)(human) PMID:23084290|REF_RGD_ID:11554169 11713067 PNPT1 polyribonucleotide nucleotidyltransferase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1317494 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11713100 SBF1 SET binding factor 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1316075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:28005197|PMID:28492532|PMID:28902413 11713100 SBF1 SET binding factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1316075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310|PMID:30763456 11713100 SBF1 SET binding factor 1 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1316075 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 11713100 SBF1 SET binding factor 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1316075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11713100 SBF1 SET binding factor 1 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1316075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 11713100 SBF1 SET binding factor 1 gene DOID:0110194 Charcot-Marie-Tooth disease type 4B3 ISO RGD:1316075 D RGD:7240710 20180130 OMIM 11713100 SBF1 SET binding factor 1 gene DOID:0110194 Charcot-Marie-Tooth disease type 4B3 ISO RGD:1316075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3 PMID:16199547|PMID:17576681|PMID:21210780|PMID:23749797|PMID:24799518|PMID:25558065|PMID:25741868|PMID:28005197|PMID:28492532|PMID:28902413|PMID:30564305|PMID:31482689|PMID:33726816|PMID:33987933|PMID:34118926|PMID:9536098 11713100 SBF1 SET binding factor 1 gene DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 ISO RGD:1316075 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 PMID:25741868|PMID:28492532 11713100 SBF1 SET binding factor 1 gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1316075 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 11713100 SBF1 SET binding factor 1 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1316075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 11713100 SBF1 SET binding factor 1 gene DOID:1059 intellectual disability ISO RGD:1316075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11713100 SBF1 SET binding factor 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1316075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:21210780|PMID:24799518|PMID:25558065 11713100 SBF1 SET binding factor 1 gene DOID:10907 microcephaly ISO RGD:1316075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:23749797|PMID:25741868|PMID:28492532 11713100 SBF1 SET binding factor 1 gene DOID:574 peripheral nervous system disease ISO RGD:1316075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 11713100 SBF1 SET binding factor 1 gene DOID:630 genetic disease ISO RGD:1316075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23749797|PMID:25741868|PMID:28492532 11713100 SBF1 SET binding factor 1 gene DOID:870 neuropathy ISO RGD:1316075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 11713144 MBOAT4 membrane bound O-acyltransferase domain containing 4 gene DOID:630 genetic disease ISO RGD:1602605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713151 WDR90 WD repeat domain 90 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1604213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 11713151 WDR90 WD repeat domain 90 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604213 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11713151 WDR90 WD repeat domain 90 gene DOID:1826 epilepsy ISO RGD:1604213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11713151 WDR90 WD repeat domain 90 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11713151 WDR90 WD repeat domain 90 gene DOID:630 genetic disease ISO RGD:1604213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713194 CILP cartilage intermediate layer protein gene DOID:0110935 nemaline myopathy 6 ISO RGD:1312971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11713194 CILP cartilage intermediate layer protein gene DOID:2717 Bloom syndrome ISO RGD:1312971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11713194 CILP cartilage intermediate layer protein gene DOID:630 genetic disease ISO RGD:1312971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713194 CILP cartilage intermediate layer protein gene DOID:8398 osteoarthritis disease_progression ISO RGD:1312971 D RGD:9068941 20200609 RGD PMID:15334463|REF_RGD_ID:1625347 11713194 CILP cartilage intermediate layer protein gene DOID:9000585 Intervertebral Disc Disease ISO RGD:1312971 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 11713194 CILP cartilage intermediate layer protein gene DOID:9000585 Intervertebral Disc Disease susceptibility ISO RGD:1312971 D RGD:7240710 20230505 OMIM 11713194 CILP cartilage intermediate layer protein gene DOID:9256 colorectal cancer ISO RGD:1312971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11713207 RASL11B RAS like family 11 member B gene DOID:630 genetic disease ISO RGD:1353496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713215 PPP2CA protein phosphatase 2 catalytic subunit alpha gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:735585 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11713215 PPP2CA protein phosphatase 2 catalytic subunit alpha gene DOID:10283 prostate cancer ISO RGD:735585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11713215 PPP2CA protein phosphatase 2 catalytic subunit alpha gene DOID:114 heart disease ISO RGD:735585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15247211 11713215 PPP2CA protein phosphatase 2 catalytic subunit alpha gene DOID:14330 Parkinson's disease ISO RGD:735585 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation:brain (human) PMID:24395787|REF_RGD_ID:8693390 11713215 PPP2CA protein phosphatase 2 catalytic subunit alpha gene DOID:2841 asthma ISO RGD:735585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22205926 11713215 PPP2CA protein phosphatase 2 catalytic subunit alpha gene DOID:6000 congestive heart failure ISO RGD:735585 D RGD:9068941 20200609 RGD mRNA:increased expression:vastus lateralis muscle (human) PMID:14567976|REF_RGD_ID:8693707 11713215 PPP2CA protein phosphatase 2 catalytic subunit alpha gene DOID:630 genetic disease ISO RGD:735585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713215 PPP2CA protein phosphatase 2 catalytic subunit alpha gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:3380 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:2562181|REF_RGD_ID:8693574 11713215 PPP2CA protein phosphatase 2 catalytic subunit alpha gene DOID:9002211 Hyperalgesia ISO RGD:3380 D RGD:9068941 20200609 RGD PMID:26732138|REF_RGD_ID:11572421 11713215 PPP2CA protein phosphatase 2 catalytic subunit alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11713215 PPP2CA protein phosphatase 2 catalytic subunit alpha gene DOID:9006344 Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities ISO RGD:735585 D RGD:7240710 20190424 OMIM 11713215 PPP2CA protein phosphatase 2 catalytic subunit alpha gene DOID:9006344 Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities ISO RGD:735585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder and language delay with or without structural brain abnormalities PMID:25741868|PMID:28333917|PMID:28492532|PMID:29051493|PMID:30595372 11713215 PPP2CA protein phosphatase 2 catalytic subunit alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735585 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11713215 PPP2CA protein phosphatase 2 catalytic subunit alpha gene DOID:9007102 Myocardial Ischemia ISO RGD:735585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11713215 PPP2CA protein phosphatase 2 catalytic subunit alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:3380 D RGD:9068941 20200609 RGD mRNA:increased expression:liver, quadriceps, epididymal fat pad (rat) PMID:22087313|REF_RGD_ID:8693665 11713225 TRIM14 tripartite motif containing 14 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1323013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 11713225 TRIM14 tripartite motif containing 14 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1323013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 11713225 TRIM14 tripartite motif containing 14 gene DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type ISO RGD:1323013 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type PMID:15726110|PMID:25741868|PMID:27213289|PMID:28492532|PMID:34163424 11713225 TRIM14 tripartite motif containing 14 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1323013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 11713225 TRIM14 tripartite motif containing 14 gene DOID:1059 intellectual disability ISO RGD:1323013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11713225 TRIM14 tripartite motif containing 14 gene DOID:12712 nephronophthisis ISO RGD:1323013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 11713225 TRIM14 tripartite motif containing 14 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1323013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 11713225 TRIM14 tripartite motif containing 14 gene DOID:630 genetic disease ISO RGD:1323013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11713225 TRIM14 tripartite motif containing 14 gene DOID:9001793 Generalized Epilepsy ISO RGD:1323013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 11713235 MTURN maturin, neural progenitor differentiation regulator homolog gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1603878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 11713235 MTURN maturin, neural progenitor differentiation regulator homolog gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11713235 MTURN maturin, neural progenitor differentiation regulator homolog gene DOID:630 genetic disease ISO RGD:1603878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713253 NLRC5 NLR family CARD domain containing 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604572 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11713253 NLRC5 NLR family CARD domain containing 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604572 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11713253 NLRC5 NLR family CARD domain containing 5 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604572 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11713253 NLRC5 NLR family CARD domain containing 5 gene DOID:630 genetic disease ISO RGD:1604572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713253 NLRC5 NLR family CARD domain containing 5 gene DOID:684 hepatocellular carcinoma ISO RGD:1604572 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:27338800|REF_RGD_ID:15003194 11713253 NLRC5 NLR family CARD domain containing 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604572 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26806094 11713306 LOC100985122 olfactory receptor 10T2 gene DOID:1540 parathyroid carcinoma ISO RGD:1350212 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11713306 LOC100985122 olfactory receptor 10T2 gene DOID:630 genetic disease ISO RGD:1350212 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713306 LOC100985122 olfactory receptor 10T2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350212 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11713310 RIIAD1 regulatory subunit of type II PKA R-subunit domain containing 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:2302530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11713310 RIIAD1 regulatory subunit of type II PKA R-subunit domain containing 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:2302530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11713310 RIIAD1 regulatory subunit of type II PKA R-subunit domain containing 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:2302530 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11713310 RIIAD1 regulatory subunit of type II PKA R-subunit domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:2302530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11713310 RIIAD1 regulatory subunit of type II PKA R-subunit domain containing 1 gene DOID:5812 MHC class II deficiency ISO RGD:2302530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11713310 RIIAD1 regulatory subunit of type II PKA R-subunit domain containing 1 gene DOID:630 genetic disease ISO RGD:2302530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713310 RIIAD1 regulatory subunit of type II PKA R-subunit domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:2302530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11713320 RCN3 reticulocalbin 3 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1346169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11713320 RCN3 reticulocalbin 3 gene DOID:630 genetic disease ISO RGD:1346169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713320 RCN3 reticulocalbin 3 gene DOID:8398 osteoarthritis ISO RGD:1346169 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11713331 TRAPPC14 trafficking protein particle complex subunit 14 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11713331 TRAPPC14 trafficking protein particle complex subunit 14 gene DOID:9003084 Primary Autosomal Recessive Microcephaly 25 ISO RGD:1605367 D RGD:7240710 20190315 OMIM 11713331 TRAPPC14 trafficking protein particle complex subunit 14 gene DOID:9003084 Primary Autosomal Recessive Microcephaly 25 ISO RGD:1605367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 25, primary, autosomal recessive PMID:25741868|PMID:30715179 11713346 DPYSL3 dihydropyrimidinase like 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:735265 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11713346 DPYSL3 dihydropyrimidinase like 3 gene DOID:630 genetic disease ISO RGD:735265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713346 DPYSL3 dihydropyrimidinase like 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11713346 DPYSL3 dihydropyrimidinase like 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735265 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11713376 FLNC filamin C gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1318791 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy PMID:25741868|PMID:28492532|PMID:32112656 11713376 FLNC filamin C gene DOID:0050700 cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:25351925|PMID:25741868|PMID:26467025|PMID:26555887|PMID:26666891|PMID:27171548|PMID:27908349|PMID:28356264|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28781516|PMID:30086531|PMID:30418145|PMID:30847666|PMID:30919686|PMID:31245841|PMID:32112656 11713376 FLNC filamin C gene DOID:0050952 spastic ataxia ISO RGD:1318791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 11713376 FLNC filamin C gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1318791 D RGD:7240710 20180130 OMIM 11713376 FLNC filamin C gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1318791 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related PMID:15929027|PMID:16199547|PMID:17412757|PMID:17576681|PMID:18414213|PMID:19050726|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25640679|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28256728|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28798025|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29551499|PMID:29650767|PMID:29706348|PMID:29792937|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30260051|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30685713|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30935706|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32022900|PMID:32037394|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:32870709|PMID:32880476|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:35026164|PMID:35463915|PMID:35470680|PMID:36104822|PMID:9536098 11713376 FLNC filamin C gene DOID:0080307 myofibrillar myopathy ISO RGD:1318791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy PMID:15929027|PMID:22961544|PMID:25741868|PMID:26472074|PMID:26969713|PMID:28492532|PMID:32022900 11713376 FLNC filamin C gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25741868|PMID:26555887|PMID:28492532|PMID:31513939|PMID:32112656 11713376 FLNC filamin C gene DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 ISO RGD:1318791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F PMID:28492532 11713376 FLNC filamin C gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1318791 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:26555887|PMID:28492532|PMID:31513939|PMID:32112656 11713376 FLNC filamin C gene DOID:0110327 hypertrophic cardiomyopathy 26 ISO RGD:1318791 D RGD:7240710 20190315 OMIM 11713376 FLNC filamin C gene DOID:0110327 hypertrophic cardiomyopathy 26 ISO RGD:1318791 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 26 | ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 5 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32037394|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:32870709|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:35026164|PMID:35463915|PMID:35470680|PMID:35903116|PMID:36104822|PMID:9536098 11713376 FLNC filamin C gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1318791 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:27908349|PMID:28492532|PMID:32112656 11713376 FLNC filamin C gene DOID:0111190 distal muscular dystrophy 4 ISO RGD:1318791 D RGD:7240710 20180130 OMIM 11713376 FLNC filamin C gene DOID:0111190 distal muscular dystrophy 4 ISO RGD:1318791 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement | ClinVar Annotator: match by term: Myopathy, distal, 4 | ClinVar Annotator: match by term: WILLIAMS DISTAL MYOPATHY PMID:15824355|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:21620354|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:35026164|PMID:35463915|PMID:35470680|PMID:35903116|PMID:36104822|PMID:9536098 11713376 FLNC filamin C gene DOID:0111425 restrictive cardiomyopathy 1 ISO RGD:1318791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 PMID:28492532 11713376 FLNC filamin C gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:26467025|PMID:26555887|PMID:28492532|PMID:31513939|PMID:32112656 11713376 FLNC filamin C gene DOID:12930 dilated cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:35026164|PMID:35463915|PMID:35470680|PMID:36104822|PMID:9536098 11713376 FLNC filamin C gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1318791 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532 11713376 FLNC filamin C gene DOID:397 restrictive cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:25741868|PMID:28356264|PMID:28492532|PMID:30260051|PMID:30418145 11713376 FLNC filamin C gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11713376 FLNC filamin C gene DOID:630 genetic disease ISO RGD:1318791 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21520333|PMID:25741868|PMID:26436962|PMID:28356264|PMID:28492532|PMID:29858533|PMID:30067491 11713376 FLNC filamin C gene DOID:6419 tetralogy of Fallot ISO RGD:1318791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:27908349 11713376 FLNC filamin C gene DOID:9003163 Heart Block ISO RGD:1318791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:25741868|PMID:27908349|PMID:28492532 11713376 FLNC filamin C gene DOID:9005532 Muscle Weakness ISO RGD:1318791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness 11713376 FLNC filamin C gene DOID:9007 sudden infant death syndrome ISO RGD:1318791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11713376 FLNC filamin C gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318791 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 11713432 ANO7 anoctamin 7 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1351029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11713432 ANO7 anoctamin 7 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1351029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11713432 ANO7 anoctamin 7 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1351029 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11713432 ANO7 anoctamin 7 gene DOID:1059 intellectual disability ISO RGD:1351029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11713432 ANO7 anoctamin 7 gene DOID:630 genetic disease ISO RGD:1351029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713432 ANO7 anoctamin 7 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1351029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11713432 ANO7 anoctamin 7 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1351029 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11713459 CIDEA cell death inducing DFFA like effector a gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1312942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11713459 CIDEA cell death inducing DFFA like effector a gene DOID:1059 intellectual disability ISO RGD:1312942 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11713459 CIDEA cell death inducing DFFA like effector a gene DOID:543 dystonia ISO RGD:1312942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 11713459 CIDEA cell death inducing DFFA like effector a gene DOID:6000 congestive heart failure ISO RGD:1312942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 11713459 CIDEA cell death inducing DFFA like effector a gene DOID:630 genetic disease ISO RGD:1312942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713459 CIDEA cell death inducing DFFA like effector a gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11713459 CIDEA cell death inducing DFFA like effector a gene DOID:9007188 Liver Neoplasms ISO RGD:1312942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25058030|PMID:28108177 11713459 CIDEA cell death inducing DFFA like effector a gene DOID:9970 obesity ISO RGD:1312942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20975297 11713459 CIDEA cell death inducing DFFA like effector a gene DOID:9970 obesity ISO RGD:1312942 D RGD:9068941 20200609 RGD protein:amino acid substitution:V115F PMID:16186410|REF_RGD_ID:1625390 11713476 WFDC13 WAP four-disulfide core domain 13 gene DOID:2234 focal epilepsy ISO RGD:1352525 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11713476 WFDC13 WAP four-disulfide core domain 13 gene DOID:630 genetic disease ISO RGD:1352525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713476 WFDC13 WAP four-disulfide core domain 13 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1352525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11713485 ANKRA2 ankyrin repeat family A member 2 gene DOID:630 genetic disease ISO RGD:1347651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713485 ANKRA2 ankyrin repeat family A member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11713514 WFDC3 WAP four-disulfide core domain 3 gene DOID:2234 focal epilepsy ISO RGD:1313240 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11713514 WFDC3 WAP four-disulfide core domain 3 gene DOID:630 genetic disease ISO RGD:1313240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713514 WFDC3 WAP four-disulfide core domain 3 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1313240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11713527 IL6 interleukin 6 gene DOID:0040084 Streptococcus pneumonia ISO RGD:10802 D RGD:9068941 20201117 RGD protein:increased expression:lung,natural killer cell (mouse) PMID:21887255|REF_RGD_ID:40818252 11713527 IL6 interleukin 6 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:10374863|REF_RGD_ID:11060275 11713527 IL6 interleukin 6 gene DOID:0050589 inflammatory bowel disease ISO RGD:1352582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Crohn disease-associated growth failure, susceptibility to PMID:10720087|PMID:11001912|PMID:11889177|PMID:12519862|PMID:12560873|PMID:12719374|PMID:15070960|PMID:15331795|PMID:15472205|PMID:16150725|PMID:16278864|PMID:17623760|PMID:9769329 11713527 IL6 interleukin 6 gene DOID:0050625 biliary tract benign neoplasm ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:18159174|REF_RGD_ID:2317165 11713527 IL6 interleukin 6 gene DOID:0050685 small cell carcinoma disease_progression ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20592377|REF_RGD_ID:4143263 11713527 IL6 interleukin 6 gene DOID:0050697 chorioamnionitis ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Premature Birth;protein:increased expression:tracheal aspirate fluid: PMID:25011638|REF_RGD_ID:12791291 11713527 IL6 interleukin 6 gene DOID:0050697 chorioamnionitis ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression: cervicovaginal fluid : PMID:25687566|REF_RGD_ID:12792243 11713527 IL6 interleukin 6 gene DOID:0050697 chorioamnionitis ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15547537|REF_RGD_ID:5128667 11713527 IL6 interleukin 6 gene DOID:0050700 cardiomyopathy ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10716473 11713527 IL6 interleukin 6 gene DOID:0050848 obstructive sleep apnea ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20668869|REF_RGD_ID:4143251 11713527 IL6 interleukin 6 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:24625449|REF_RGD_ID:9589120 11713527 IL6 interleukin 6 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 11713527 IL6 interleukin 6 gene DOID:0060180 colitis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22410118|PMID:24548422 11713527 IL6 interleukin 6 gene DOID:0060496 respiratory allergy ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18394133 11713527 IL6 interleukin 6 gene DOID:0060688 arteriovenous malformations of the brain susceptibility ISO RGD:1352582 D RGD:7240710 20230517 OMIM 11713527 IL6 interleukin 6 gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:1352582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 11713527 IL6 interleukin 6 gene DOID:0060901 lymphoplasmacytic lymphoma ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNPs: :rs6952003, rs7801617, rs10156056 (human) PMID:19573080|REF_RGD_ID:11049165 11713527 IL6 interleukin 6 gene DOID:0060901 lymphoplasmacytic lymphoma no_association ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:19573080|REF_RGD_ID:11049165 11713527 IL6 interleukin 6 gene DOID:0080199 colorectal carcinoma treatment ISO RGD:2901 D RGD:9068941 20210611 RGD PMID:29229353|REF_RGD_ID:127284843 11713527 IL6 interleukin 6 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:rs10499563, rs1800795 (human) PMID:27730688|REF_RGD_ID:14975293 11713527 IL6 interleukin 6 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1352582 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver,plasma PMID:18510618|REF_RGD_ID:7829808 11713527 IL6 interleukin 6 gene DOID:0080333 aortic valve disease 1 severity ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:23969418|REF_RGD_ID:12792206 11713527 IL6 interleukin 6 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-174G>C (human) PMID:28852433|REF_RGD_ID:14975143 11713527 IL6 interleukin 6 gene DOID:0080547 non-alcoholic steatohepatitis ameliorates ISO RGD:10802 D RGD:9068941 20210702 RGD PMID:28100771|REF_RGD_ID:127285675 11713527 IL6 interleukin 6 gene DOID:0080599 Coronavirus infectious disease ISO RGD:10802 D RGD:9068941 20200609 RGD Severe Acute Respiratory Syndrome;protein:increased expression:lung PMID:19906920|REF_RGD_ID:4891446 11713527 IL6 interleukin 6 gene DOID:0080600 COVID-19 ISO RGD:1352582 D RGD:9068941 20200618 RGD protein:increased expression:serum: PMID:32416070|REF_RGD_ID:30296676 11713527 IL6 interleukin 6 gene DOID:0080600 COVID-19 ISO RGD:1352582 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 11713527 IL6 interleukin 6 gene DOID:0080600 COVID-19 ISO RGD:1352582 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:32026671|PMID:32161940|PMID:32171193|PMID:32534021 11713527 IL6 interleukin 6 gene DOID:0080600 COVID-19 disease_progression ISO RGD:1352582 D RGD:9068941 20200618 RGD PMID:32407836|REF_RGD_ID:30309206 11713527 IL6 interleukin 6 gene DOID:0080600 COVID-19 disease_progression ISO RGD:1352582 D RGD:9068941 20200618 RGD associated with diabetes mellitus PMID:32345579|REF_RGD_ID:30296681 11713527 IL6 interleukin 6 gene DOID:0080600 COVID-19 severity ISO RGD:1352582 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 11713527 IL6 interleukin 6 gene DOID:0080600 COVID-19 severity ISO RGD:1352582 D RGD:9068941 20200625 RGD associated with cardiovascular system disease;protein:increased expression:blood (human) PMID:32456948|REF_RGD_ID:30309957 11713527 IL6 interleukin 6 gene DOID:0080600 COVID-19 severity ISO RGD:1352582 D RGD:9068941 20200625 RGD protein:increased expression:blood (human) PMID:32181911|REF_RGD_ID:30310230 11713527 IL6 interleukin 6 gene DOID:0080600 COVID-19 severity ISO RGD:1352582 D RGD:9068941 20200723 RGD protein:increased expression:serum (human) PMID:32125452|PMID:32164089|PMID:32227274|PMID:32297828|PMID:32365221|PMID:32427582|PMID:32434211|REF_RGD_ID:27095965|REF_RGD_ID:27226695|REF_RGD_ID:30309200|REF_RGD_ID:30310229|REF_RGD_ID:30310238|REF_RGD_ID:32716368|REF_RGD_ID:36049814 11713527 IL6 interleukin 6 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:10802 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 11713527 IL6 interleukin 6 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:10802 D RGD:9068941 20200618 RGD PMID:30626685|REF_RGD_ID:30309198 11713527 IL6 interleukin 6 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:10802 D RGD:9068941 20200625 RGD protein:increased expression:serum: PMID:30634407|REF_RGD_ID:30309958 11713527 IL6 interleukin 6 gene DOID:0080743 transverse myelitis ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum, cerebral spinal fluid: PMID:20128675|REF_RGD_ID:7829722 11713527 IL6 interleukin 6 gene DOID:0080745 polymyositis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 11713527 IL6 interleukin 6 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:19050604|REF_RGD_ID:11062108 11713527 IL6 interleukin 6 gene DOID:0080998 acute necrotizing pancreatitis treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:11780340|REF_RGD_ID:11062058 11713527 IL6 interleukin 6 gene DOID:0111157 Castleman disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15182131 11713527 IL6 interleukin 6 gene DOID:10140 dry eye syndrome susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with arthritis,rehumatoid arthritis;DNA:polymorphims:promoter:-174G>C(human) PMID:18419107|REF_RGD_ID:7829751 11713527 IL6 interleukin 6 gene DOID:10247 pleurisy ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181422 11713527 IL6 interleukin 6 gene DOID:10322 berylliosis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8428540 11713527 IL6 interleukin 6 gene DOID:10534 stomach cancer ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:30610790|REF_RGD_ID:14975253 11713527 IL6 interleukin 6 gene DOID:10534 stomach cancer ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNP: :rs2069837 (human) PMID:27049718|REF_RGD_ID:14975290 11713527 IL6 interleukin 6 gene DOID:10534 stomach cancer ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1800796, rs10499563 (human) PMID:28442395|REF_RGD_ID:14975291 11713527 IL6 interleukin 6 gene DOID:10534 stomach cancer ISO RGD:1352582 D RGD:9068941 20210528 RGD human cells in mouse model;associated with mental depression; protein:increased expression:blood serum, stomach (human) PMID:31396300|REF_RGD_ID:126908003 11713527 IL6 interleukin 6 gene DOID:10534 stomach cancer no_association ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNPs: :rs6949149 (human) PMID:28442395|REF_RGD_ID:14975291 11713527 IL6 interleukin 6 gene DOID:10591 pre-eclampsia ameliorates ISO RGD:2901 D RGD:9068941 20230323 RGD PMID:31203154|REF_RGD_ID:213230155 11713527 IL6 interleukin 6 gene DOID:10608 celiac disease ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; DNA:polymorphism:promoter:-174G>C (human) PMID:18692934|REF_RGD_ID:2307292 11713527 IL6 interleukin 6 gene DOID:10652 Alzheimer's disease treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:27088818|REF_RGD_ID:11062148 11713527 IL6 interleukin 6 gene DOID:1073 renal hypertension ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22188107|REF_RGD_ID:6907405 11713527 IL6 interleukin 6 gene DOID:10754 otitis media ISO RGD:10802 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:middle ear,inner ear: PMID:21271590|REF_RGD_ID:8547980 11713527 IL6 interleukin 6 gene DOID:10754 otitis media ISO RGD:2901 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:middle ear: PMID:11165648|REF_RGD_ID:7829801 11713527 IL6 interleukin 6 gene DOID:10754 otitis media ISO RGD:8766282 D RGD:9068941 20200609 RGD PMID:10085040|REF_RGD_ID:11553900 11713527 IL6 interleukin 6 gene DOID:10754 otitis media susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-174G>C(human) PMID:17908769|REF_RGD_ID:7365054 11713527 IL6 interleukin 6 gene DOID:10763 hypertension ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) PMID:19043252|REF_RGD_ID:2307283 11713527 IL6 interleukin 6 gene DOID:10763 hypertension ISO RGD:1352582 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:27292124|PMID:27659729|PMID:27847271|PMID:32147540|PMID:32165127 11713527 IL6 interleukin 6 gene DOID:10763 hypertension susceptibility ISO RGD:1352582 D RGD:9068941 20200806 RGD associated with end stage renal disease; DNA:polymorphisms:promoter: -174G>C (human) PMID:12846758|REF_RGD_ID:1580485 11713527 IL6 interleukin 6 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor: PMID:22490043|REF_RGD_ID:7829793 11713527 IL6 interleukin 6 gene DOID:10914 amnestic disorder ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9189931 11713527 IL6 interleukin 6 gene DOID:10941 intracranial aneurysm ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:16648144|REF_RGD_ID:1580488 11713527 IL6 interleukin 6 gene DOID:10964 cholesteatoma of middle ear ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Otitis Media;protein:increased expression:ear: PMID:21311206|REF_RGD_ID:7364848 11713527 IL6 interleukin 6 gene DOID:10964 cholesteatoma of middle ear ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:ear: PMID:8652157|REF_RGD_ID:7829727 11713527 IL6 interleukin 6 gene DOID:11168 anogenital venereal wart ISO RGD:1352582 D RGD:9068941 20201105 RGD protein:decreased expression:peripheral blood mononuclear cells (human) PMID:23754510|REF_RGD_ID:40400714 11713527 IL6 interleukin 6 gene DOID:1123 spondyloarthropathy ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:9489833|REF_RGD_ID:7829742 11713527 IL6 interleukin 6 gene DOID:11247 disseminated intravascular coagulation ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16613997|REF_RGD_ID:11049462 11713527 IL6 interleukin 6 gene DOID:11247 disseminated intravascular coagulation ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:16932226|REF_RGD_ID:11062099 11713527 IL6 interleukin 6 gene DOID:11247 disseminated intravascular coagulation severity ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Hemorrhagic Fever, Crimean PMID:16518755|REF_RGD_ID:10450536 11713527 IL6 interleukin 6 gene DOID:11247 disseminated intravascular coagulation treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:16810104|REF_RGD_ID:11060278 11713527 IL6 interleukin 6 gene DOID:11446 sciatic neuropathy ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion PMID:20519054|REF_RGD_ID:5128675 11713527 IL6 interleukin 6 gene DOID:11476 osteoporosis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15995586 11713527 IL6 interleukin 6 gene DOID:11563 retinal vasculitis ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:19834028|REF_RGD_ID:11039401 11713527 IL6 interleukin 6 gene DOID:11714 gestational diabetes ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:extracellular space (human) PMID:19408175|REF_RGD_ID:2307186 11713527 IL6 interleukin 6 gene DOID:11716 prediabetes syndrome ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:extracellular space (human) PMID:19442860|REF_RGD_ID:2307180 11713527 IL6 interleukin 6 gene DOID:11758 iron deficiency anemia ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic;protein:increased expression:heart, kidney (rat) PMID:18808386|REF_RGD_ID:11062011 11713527 IL6 interleukin 6 gene DOID:1205 allergic disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11713527 IL6 interleukin 6 gene DOID:12157 aseptic meningitis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10888991 11713527 IL6 interleukin 6 gene DOID:12241 beta thalassemia ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:23905873|REF_RGD_ID:11041617 11713527 IL6 interleukin 6 gene DOID:12361 Graves' disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 11713527 IL6 interleukin 6 gene DOID:12361 Graves' disease ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-572C>G(human) PMID:21235536|REF_RGD_ID:7829719 11713527 IL6 interleukin 6 gene DOID:12361 Graves' disease disease_progression ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:12818091|REF_RGD_ID:7829750 11713527 IL6 interleukin 6 gene DOID:12466 secondary hyperparathyroidism ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21350317 11713527 IL6 interleukin 6 gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15384034 11713527 IL6 interleukin 6 gene DOID:12678 hypercalcemia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10638776 11713527 IL6 interleukin 6 gene DOID:12704 ataxia telangiectasia severity ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:26851119|REF_RGD_ID:11529801 11713527 IL6 interleukin 6 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Otitis media;protein:increased expression:serum: PMID:19352211|REF_RGD_ID:8142352 11713527 IL6 interleukin 6 gene DOID:1273 respiratory syncytial virus infectious disease severity ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucus PMID:20622030|REF_RGD_ID:4143259 11713527 IL6 interleukin 6 gene DOID:12835 quadriplegia susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with males:DNA:SNPs, haplotype: : rs1800796, rs2069837(human) PMID:23415255|REF_RGD_ID:12792240 11713527 IL6 interleukin 6 gene DOID:12849 autistic disorder ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8964908 11713527 IL6 interleukin 6 gene DOID:12849 autistic disorder treatment ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:26418275|REF_RGD_ID:12792236 11713527 IL6 interleukin 6 gene DOID:12858 Huntington's disease treatment ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:11860469|REF_RGD_ID:10402809 11713527 IL6 interleukin 6 gene DOID:1289 neurodegenerative disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12836160 11713527 IL6 interleukin 6 gene DOID:12894 Sjogren's syndrome ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:11426023|REF_RGD_ID:7829718 11713527 IL6 interleukin 6 gene DOID:12894 Sjogren's syndrome severity ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphims:promoter:-174G>C(human) PMID:11426023|REF_RGD_ID:7829718 11713527 IL6 interleukin 6 gene DOID:12895 keratoconjunctivitis sicca ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Sjogren's Syndrome;mRNA,protein:increased expression:conjunctiva: PMID:10487957|REF_RGD_ID:7829756 11713527 IL6 interleukin 6 gene DOID:13141 uveitis ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:1544781|REF_RGD_ID:7829806 11713527 IL6 interleukin 6 gene DOID:13141 uveitis ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;protein:increased expression:serum: PMID:15209464|REF_RGD_ID:7387294 11713527 IL6 interleukin 6 gene DOID:13141 uveitis ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor: PMID:10420202|REF_RGD_ID:7829723 11713527 IL6 interleukin 6 gene DOID:13141 uveitis ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:eye PMID:1544781|REF_RGD_ID:7829806 11713527 IL6 interleukin 6 gene DOID:13197 nodular goiter ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 11713527 IL6 interleukin 6 gene DOID:13241 Behcet's disease ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased secretion:monocyte: PMID:8164212|REF_RGD_ID:7829752 11713527 IL6 interleukin 6 gene DOID:13580 cholestasis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22461449 11713527 IL6 interleukin 6 gene DOID:13593 eclampsia treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:27106269|REF_RGD_ID:11062145 11713527 IL6 interleukin 6 gene DOID:13619 extrahepatic cholestasis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 11713527 IL6 interleukin 6 gene DOID:1389 polyneuropathy ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) PMID:19131463|REF_RGD_ID:2307274 11713527 IL6 interleukin 6 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 11713527 IL6 interleukin 6 gene DOID:14115 toxic shock syndrome treatment ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:2124237|REF_RGD_ID:11060276 11713527 IL6 interleukin 6 gene DOID:14330 Parkinson's disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21318773 11713527 IL6 interleukin 6 gene DOID:1470 major depressive disorder ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNP, haplotype:promoter:-174G>C (human) PMID:30734130|REF_RGD_ID:14975122 11713527 IL6 interleukin 6 gene DOID:1474 aggressive periodontitis ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-174G>C (human) PMID:28662328|REF_RGD_ID:14975139 11713527 IL6 interleukin 6 gene DOID:1485 cystic fibrosis ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:16403491|REF_RGD_ID:5128672 11713527 IL6 interleukin 6 gene DOID:1485 cystic fibrosis ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20438838|REF_RGD_ID:4143275 11713527 IL6 interleukin 6 gene DOID:1532 pleural disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21357438 11713527 IL6 interleukin 6 gene DOID:1580 diffuse scleroderma treatment ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:20338043|REF_RGD_ID:12792275 11713527 IL6 interleukin 6 gene DOID:1588 thrombocytopenia severity ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Malaria, Vivax PMID:25128199|REF_RGD_ID:11041893 11713527 IL6 interleukin 6 gene DOID:1596 depressive disorder ISO RGD:10802 D RGD:9068941 20210507 RGD protein:increased expression:serum, hippocampus (mouse) PMID:31396300|REF_RGD_ID:126908003 11713527 IL6 interleukin 6 gene DOID:1596 depressive disorder ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18458677 11713527 IL6 interleukin 6 gene DOID:1596 depressive disorder ISO RGD:1352582 D RGD:9068941 20200924 RGD associated with Chronic Hepatitis C; DNA:insertion/deletion:promoter: PMID:23571152|REF_RGD_ID:38676480 11713527 IL6 interleukin 6 gene DOID:1596 depressive disorder ISO RGD:1352582 D RGD:9068941 20210528 RGD associated with gastric adenocarcinoma; protein:increased expression:blood serum (human) PMID:31396300|REF_RGD_ID:126908003 11713527 IL6 interleukin 6 gene DOID:1596 depressive disorder ISO RGD:2901 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:23589140|REF_RGD_ID:10402829 11713527 IL6 interleukin 6 gene DOID:1596 depressive disorder ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:27106565|REF_RGD_ID:11062144 11713527 IL6 interleukin 6 gene DOID:1596 depressive disorder treatment ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNP:promoter:-174G>C (human) PMID:28083615|REF_RGD_ID:14975286 11713527 IL6 interleukin 6 gene DOID:1612 breast cancer susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism::rs2069832(human) PMID:17594514|REF_RGD_ID:7829720 11713527 IL6 interleukin 6 gene DOID:1687 neovascular glaucoma disease_progression ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Retinal Vein Occlusion;protein:increased expression:aqueous humor: PMID:10509659|REF_RGD_ID:7829814 11713527 IL6 interleukin 6 gene DOID:1727 retinal vein occlusion ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:21487926|REF_RGD_ID:5490120 11713527 IL6 interleukin 6 gene DOID:1749 squamous cell carcinoma ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26372664 11713527 IL6 interleukin 6 gene DOID:1790 malignant mesothelioma ISO RGD:1352582 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 11713527 IL6 interleukin 6 gene DOID:1793 pancreatic cancer ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:30610790|REF_RGD_ID:14975253 11713527 IL6 interleukin 6 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:30304975|REF_RGD_ID:14975257 11713527 IL6 interleukin 6 gene DOID:1826 epilepsy ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:brain,plasma PMID:28303499|REF_RGD_ID:13524859 11713527 IL6 interleukin 6 gene DOID:1875 impotence treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:21492407|REF_RGD_ID:10402827 11713527 IL6 interleukin 6 gene DOID:1875 impotence treatment ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:24467772|REF_RGD_ID:9495931 11713527 IL6 interleukin 6 gene DOID:1883 hepatitis C ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1474348, rs1800796, rs1800797 (human) PMID:28340949|REF_RGD_ID:14975144 11713527 IL6 interleukin 6 gene DOID:1883 hepatitis C no_association ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:28340949|REF_RGD_ID:14975144 11713527 IL6 interleukin 6 gene DOID:1924 hypogonadism ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:20221887|REF_RGD_ID:2317160 11713527 IL6 interleukin 6 gene DOID:1936 atherosclerosis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19330073 11713527 IL6 interleukin 6 gene DOID:1936 atherosclerosis ameliorates ISO RGD:10802 D RGD:9068941 20230330 RGD PMID:35854140|REF_RGD_ID:242905195 11713527 IL6 interleukin 6 gene DOID:1993 rectum cancer treatment ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:28272402|REF_RGD_ID:14975288 11713527 IL6 interleukin 6 gene DOID:2018 hyperinsulinism ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) PMID:19375766|REF_RGD_ID:2307250 11713527 IL6 interleukin 6 gene DOID:2043 hepatitis B ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-174C>G (human) PMID:27268603|REF_RGD_ID:14975295 11713527 IL6 interleukin 6 gene DOID:2048 autoimmune hepatitis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 11713527 IL6 interleukin 6 gene DOID:2316 brain ischemia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914|PMID:17394460 11713527 IL6 interleukin 6 gene DOID:2355 anemia ISO RGD:10802 D RGD:9068941 20200609 RGD associated with Colonic Neoplasms;protein:increased expression:serum (mouse) PMID:19265263|REF_RGD_ID:11060277 11713527 IL6 interleukin 6 gene DOID:2355 anemia ISO RGD:10802 D RGD:9068941 20200609 RGD associated with Inflammation PMID:24357729|REF_RGD_ID:11041614 11713527 IL6 interleukin 6 gene DOID:2377 multiple sclerosis ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:24155968|REF_RGD_ID:12792202 11713527 IL6 interleukin 6 gene DOID:2377 multiple sclerosis severity ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-572 G>C(human) PMID:23202972|REF_RGD_ID:12791288 11713527 IL6 interleukin 6 gene DOID:2377 multiple sclerosis treatment ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-174G>C(human) PMID:26285213|REF_RGD_ID:11079567 11713527 IL6 interleukin 6 gene DOID:2513 basal cell carcinoma ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22108589 11713527 IL6 interleukin 6 gene DOID:26 pancreas disease ISO RGD:10802 D RGD:9068941 20200609 RGD insulitis associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:extracellular space (mouse) PMID:18772604|REF_RGD_ID:2307287 11713527 IL6 interleukin 6 gene DOID:2797 idiopathic interstitial pneumonia ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:bronchoalveolar lavage (rat) PMID:10988147|REF_RGD_ID:11062092 11713527 IL6 interleukin 6 gene DOID:2799 bronchiolitis obliterans ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:20393404|REF_RGD_ID:4143277 11713527 IL6 interleukin 6 gene DOID:2841 asthma ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:20840469|PMID:21115736|REF_RGD_ID:4143265|REF_RGD_ID:5128630 11713527 IL6 interleukin 6 gene DOID:2841 asthma ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29902480 11713527 IL6 interleukin 6 gene DOID:2841 asthma ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Hypersensitivity;protein:increased expression:sputum PMID:20816188|REF_RGD_ID:4143266 11713527 IL6 interleukin 6 gene DOID:2841 asthma ISO RGD:2901 D RGD:9068941 20211126 RGD protein:increased expression:lung PMID:20658762|REF_RGD_ID:4143271 11713527 IL6 interleukin 6 gene DOID:2862 glucosephosphate dehydrogenase deficiency ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-174G>C (human) PMID:15718915|REF_RGD_ID:11049178 11713527 IL6 interleukin 6 gene DOID:2921 glomerulonephritis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9403216 11713527 IL6 interleukin 6 gene DOID:2945 severe acute respiratory syndrome ISO RGD:10802 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 11713527 IL6 interleukin 6 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1352582 D RGD:9068941 20200702 RGD protein:increased expression:bronchoalveolar lavage (human) PMID:15888207|REF_RGD_ID:34201108 11713527 IL6 interleukin 6 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1352582 D RGD:9068941 20200702 RGD protein:increased expression:serum (human) PMID:15271897|REF_RGD_ID:32716401 11713527 IL6 interleukin 6 gene DOID:2945 severe acute respiratory syndrome ISO RGD:2901 D RGD:9068941 20200702 RGD protein:increased expression:serum, Bronchoalveolar Lavage fluid (rat) PMID:16409721|REF_RGD_ID:32726073 11713527 IL6 interleukin 6 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1352582 D RGD:9068941 20200702 RGD protein:increased expression:blood (human) PMID:15472864|REF_RGD_ID:34888224 11713527 IL6 interleukin 6 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1352582 D RGD:9068941 20200619 RGD protein:increased expression:serum (human) PMID:15657466|REF_RGD_ID:30309219 11713527 IL6 interleukin 6 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:10802 D RGD:9068941 20230302 RGD PMID:32553273|REF_RGD_ID:32716426 11713527 IL6 interleukin 6 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1352582 D RGD:9068941 20230302 RGD PMID:15865221|REF_RGD_ID:33769580 11713527 IL6 interleukin 6 gene DOID:2957 pulmonary tuberculosis ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:20624776|REF_RGD_ID:4143257 11713527 IL6 interleukin 6 gene DOID:2987 familial Mediterranean fever ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20518740|REF_RGD_ID:5686880 11713527 IL6 interleukin 6 gene DOID:3021 acute kidney failure ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21570986 11713527 IL6 interleukin 6 gene DOID:3021 acute kidney failure ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Acute Lung Injury;protein:increased expression:plasma PMID:18074478|REF_RGD_ID:5128661 11713527 IL6 interleukin 6 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28864214|PMID:29329563|PMID:31349846 11713527 IL6 interleukin 6 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20819268|REF_RGD_ID:4143243 11713527 IL6 interleukin 6 gene DOID:3087 gingivitis ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus; protein:increased expression:extracellular space (human) PMID:19186972|REF_RGD_ID:2307265 11713527 IL6 interleukin 6 gene DOID:319 spinal cord disease ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:30327453|REF_RGD_ID:14975119 11713527 IL6 interleukin 6 gene DOID:3229 gastric dilatation ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:30249047|REF_RGD_ID:14975138 11713527 IL6 interleukin 6 gene DOID:326 ischemia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18091701 11713527 IL6 interleukin 6 gene DOID:331 central nervous system disease ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Behcet Snydorme;protein:increased activity:cerebral spinal fluid: PMID:9000037|REF_RGD_ID:7829731 11713527 IL6 interleukin 6 gene DOID:3310 atopic dermatitis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 11713527 IL6 interleukin 6 gene DOID:3388 periodontal disease ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; DNA:polymorphism:promoter:-174G>C (human) PMID:19017034|REF_RGD_ID:2307284 11713527 IL6 interleukin 6 gene DOID:3388 periodontal disease severity ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:17286759|REF_RGD_ID:1601585 11713527 IL6 interleukin 6 gene DOID:3393 coronary artery disease ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) PMID:19368923|REF_RGD_ID:2307251 11713527 IL6 interleukin 6 gene DOID:341 peripheral vascular disease ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X; protein:increased expression:extracellular space (human) PMID:19397692|REF_RGD_ID:2307191 11713527 IL6 interleukin 6 gene DOID:3525 middle cerebral artery infarction ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626|PMID:21940958|PMID:25257527 11713527 IL6 interleukin 6 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:29498696|REF_RGD_ID:13792833 11713527 IL6 interleukin 6 gene DOID:3526 cerebral infarction treatment ISO RGD:10802 D RGD:9068941 20220930 RGD PMID:29111308|REF_RGD_ID:155260331 11713527 IL6 interleukin 6 gene DOID:37 skin disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 11713527 IL6 interleukin 6 gene DOID:3717 gastric adenocarcinoma ISO RGD:1352582 D RGD:9068941 20210507 RGD protein:increased expression:blood serum (human) PMID:31396300|REF_RGD_ID:126908003 11713527 IL6 interleukin 6 gene DOID:3770 pulmonary fibrosis ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:20846163|REF_RGD_ID:4143241 11713527 IL6 interleukin 6 gene DOID:3770 pulmonary fibrosis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17266442|PMID:25216247 11713527 IL6 interleukin 6 gene DOID:3825 Shwartzman phenomenon treatment ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:1381315|REF_RGD_ID:11060272 11713527 IL6 interleukin 6 gene DOID:417 autoimmune disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19077085 11713527 IL6 interleukin 6 gene DOID:418 systemic scleroderma treatment ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:23406616|REF_RGD_ID:12792238 11713527 IL6 interleukin 6 gene DOID:4195 hyperglycemia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 11713527 IL6 interleukin 6 gene DOID:4195 hyperglycemia ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:extracellular space (human) PMID:18608123|REF_RGD_ID:2307291 11713527 IL6 interleukin 6 gene DOID:4195 hyperglycemia ISO RGD:1352582 D RGD:9068941 20200609 RGD fasting glucose associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphism:promoter:-174G>C (human) PMID:18752089|REF_RGD_ID:2307290 11713527 IL6 interleukin 6 gene DOID:4251 conjunctival disease ISO RGD:1352582 D RGD:9068941 20200609 RGD conjunctivochalasis;protein:increased expression:tear: PMID:19158563|REF_RGD_ID:7829815 11713527 IL6 interleukin 6 gene DOID:4449 macular retinal edema ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Retinal vein occlusion;protein:increased expression:vitreous: PMID:22066978|REF_RGD_ID:7829760 11713527 IL6 interleukin 6 gene DOID:4449 macular retinal edema ISO RGD:1352582 D RGD:9068941 20221014 RGD associated with central retinal vein occlusion;protein:increased expression:aqueous humor of eyeball (human) PMID:35799735|REF_RGD_ID:155582223 11713527 IL6 interleukin 6 gene DOID:4450 renal cell carcinoma ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7834629 11713527 IL6 interleukin 6 gene DOID:4677 keratitis susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype:promoter:-174 G>C,−572 C/G(human) PMID:22503230|REF_RGD_ID:7829772 11713527 IL6 interleukin 6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11713527 IL6 interleukin 6 gene DOID:4947 cholangiocarcinoma ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17621267 11713527 IL6 interleukin 6 gene DOID:4947 cholangiocarcinoma ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:15011822|REF_RGD_ID:2317167 11713527 IL6 interleukin 6 gene DOID:4947 cholangiocarcinoma ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:28925763|REF_RGD_ID:14975292 11713527 IL6 interleukin 6 gene DOID:5082 liver cirrhosis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12830005 11713527 IL6 interleukin 6 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:1768380|REF_RGD_ID:10449449 11713527 IL6 interleukin 6 gene DOID:5327 retinal detachment ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Retinal vein occlusion;protein:increased expression:aqueous humor,vitreous fluid: PMID:21978265|REF_RGD_ID:7829821 11713527 IL6 interleukin 6 gene DOID:5327 retinal detachment ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:vitreous: PMID:1800167|REF_RGD_ID:7829748 11713527 IL6 interleukin 6 gene DOID:5419 schizophrenia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8067274 11713527 IL6 interleukin 6 gene DOID:5425 ovarian hyperstimulation syndrome ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum, ascites (human) PMID:9322101|REF_RGD_ID:11062135 11713527 IL6 interleukin 6 gene DOID:5463 cochlear disease ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:29304389|REF_RGD_ID:13792837 11713527 IL6 interleukin 6 gene DOID:552 pneumonia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11713527 IL6 interleukin 6 gene DOID:552 pneumonia disease_progression ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:20595152|REF_RGD_ID:4140400 11713527 IL6 interleukin 6 gene DOID:574 peripheral nervous system disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18270703 11713527 IL6 interleukin 6 gene DOID:576 proteinuria ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:extracellular space (human) PMID:19377212|REF_RGD_ID:2307194 11713527 IL6 interleukin 6 gene DOID:5773 oral submucous fibrosis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28984080 11713527 IL6 interleukin 6 gene DOID:5844 myocardial infarction ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15883752|PMID:16310260 11713527 IL6 interleukin 6 gene DOID:6000 congestive heart failure ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15135663|PMID:16360360 11713527 IL6 interleukin 6 gene DOID:6000 congestive heart failure ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:28939262|REF_RGD_ID:14975271 11713527 IL6 interleukin 6 gene DOID:6000 congestive heart failure ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:extracellular space (rat) PMID:18999900|REF_RGD_ID:2307285 11713527 IL6 interleukin 6 gene DOID:6000 congestive heart failure ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA:increased expression:heart PMID:18280594|REF_RGD_ID:5128682 11713527 IL6 interleukin 6 gene DOID:630 genetic disease ISO RGD:1352582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713527 IL6 interleukin 6 gene DOID:6432 pulmonary hypertension ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:20693255|REF_RGD_ID:4143246 11713527 IL6 interleukin 6 gene DOID:6432 pulmonary hypertension disease_progression ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:20713898|REF_RGD_ID:4142530 11713527 IL6 interleukin 6 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:9489833|REF_RGD_ID:7829742 11713527 IL6 interleukin 6 gene DOID:684 hepatocellular carcinoma ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17615358|PMID:20818158|PMID:26297436|PMID:27022031 11713527 IL6 interleukin 6 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:10802 D RGD:9068941 20210423 RGD mRNA,protein:increased expression:liver, blood serum (mouse) PMID:26569409|REF_RGD_ID:11344640 11713527 IL6 interleukin 6 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNP: :rs2069852 (human) PMID:27368337|REF_RGD_ID:14975289 11713527 IL6 interleukin 6 gene DOID:699 mitochondrial myopathy ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 11713527 IL6 interleukin 6 gene DOID:7147 ankylosing spondylitis ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:26339141|REF_RGD_ID:12792209 11713527 IL6 interleukin 6 gene DOID:7148 rheumatoid arthritis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274|PMID:22450443 11713527 IL6 interleukin 6 gene DOID:7188 autoimmune thyroiditis severity ISO RGD:10802 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:extracellular space (mouse) PMID:19301205|REF_RGD_ID:2307256 11713527 IL6 interleukin 6 gene DOID:783 end stage renal disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19539174 11713527 IL6 interleukin 6 gene DOID:801 hemarthrosis treatment ISO RGD:10802 D RGD:9068941 20200609 RGD associated with Hemophilia A PMID:23413986|REF_RGD_ID:11060150 11713527 IL6 interleukin 6 gene DOID:820 myocarditis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25396421 11713527 IL6 interleukin 6 gene DOID:824 periodontitis susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD chronic periodontitis PMID:17209781|REF_RGD_ID:1601588 11713527 IL6 interleukin 6 gene DOID:824 periodontitis treatment ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:27795360|REF_RGD_ID:14975132 11713527 IL6 interleukin 6 gene DOID:8283 peritonitis ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:26601826|REF_RGD_ID:14975296 11713527 IL6 interleukin 6 gene DOID:8463 corneal ulcer ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Arthritis,Rheumatoid;mRNA:increased expression:keratocyte: PMID:12714388|REF_RGD_ID:7829721 11713527 IL6 interleukin 6 gene DOID:8483 retinal artery occlusion ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:19421412|REF_RGD_ID:7829809 11713527 IL6 interleukin 6 gene DOID:8483 retinal artery occlusion susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism>promoter:-174G>C(human) PMID:15604420|REF_RGD_ID:7829798 11713527 IL6 interleukin 6 gene DOID:850 lung disease ISO RGD:10802 D RGD:9068941 20200609 RGD Acute Lung Injury associated with Endotoxemia;protein:increased expression:lung PMID:20639460|REF_RGD_ID:4143256 11713527 IL6 interleukin 6 gene DOID:850 lung disease ISO RGD:10802 D RGD:9068941 20200609 RGD Acute Lung Injury associated with Sepsis PMID:20845074|REF_RGD_ID:4143242 11713527 IL6 interleukin 6 gene DOID:850 lung disease ISO RGD:10802 D RGD:9068941 20200609 RGD Ventilator-Induced Lung Injury;protein:increased expression:lung PMID:20683250|REF_RGD_ID:4143249 11713527 IL6 interleukin 6 gene DOID:850 lung disease ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15547537|REF_RGD_ID:5128667 11713527 IL6 interleukin 6 gene DOID:850 lung disease ISO RGD:2901 D RGD:9068941 20200609 RGD Acute Lung Injury associated with Pancreatitis PMID:20709317|REF_RGD_ID:5134961 11713527 IL6 interleukin 6 gene DOID:850 lung disease severity ISO RGD:2901 D RGD:9068941 20200609 RGD Acute Lung Injury;mRNA:increased expression:lung PMID:20818231|REF_RGD_ID:4143244 11713527 IL6 interleukin 6 gene DOID:8567 Hodgkin's lymphoma ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:19573080|REF_RGD_ID:11049165 11713527 IL6 interleukin 6 gene DOID:8567 Hodgkin's lymphoma treatment ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:21466366|REF_RGD_ID:11049168 11713527 IL6 interleukin 6 gene DOID:8574 lichen disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18393961 11713527 IL6 interleukin 6 gene DOID:8632 Kaposi's sarcoma ISO RGD:1352582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kaposi's sarcoma PMID:10720087|PMID:11001912|PMID:11889177|PMID:12519862|PMID:12560873|PMID:12719374|PMID:15070960|PMID:15331795|PMID:15472205|PMID:16150725|PMID:16278864|PMID:17623760|PMID:9769329 11713527 IL6 interleukin 6 gene DOID:8632 Kaposi's sarcoma susceptibility ISO RGD:1352582 D RGD:7240710 20230517 OMIM 11713527 IL6 interleukin 6 gene DOID:8677 perinatal necrotizing enterocolitis treatment ISO RGD:2901 D RGD:9068941 20211126 RGD PMID:20501441|REF_RGD_ID:2324672 11713527 IL6 interleukin 6 gene DOID:874 bacterial pneumonia severity ISO RGD:10802 D RGD:9068941 20200820 RGD PMID:25398094|REF_RGD_ID:38501102 11713527 IL6 interleukin 6 gene DOID:8778 Crohn's disease ISO RGD:1352582 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:10700533|PMID:21829567 11713527 IL6 interleukin 6 gene DOID:8778 Crohn's disease susceptibility ISO RGD:1352582 D RGD:7240710 20230517 OMIM 11713527 IL6 interleukin 6 gene DOID:8869 neuromyelitis optica severity ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum, cerebral spinal fluid: PMID:20128675|REF_RGD_ID:7829722 11713527 IL6 interleukin 6 gene DOID:8893 psoriasis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844318 11713527 IL6 interleukin 6 gene DOID:8927 learning disability disease_progression ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:9037082|REF_RGD_ID:7829733 11713527 IL6 interleukin 6 gene DOID:893 Wilson disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25002079 11713527 IL6 interleukin 6 gene DOID:8947 diabetic retinopathy ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) PMID:18988929|REF_RGD_ID:2307272 11713527 IL6 interleukin 6 gene DOID:8947 diabetic retinopathy ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Typpe 1;protein:increased expression:serum: PMID:17725274|REF_RGD_ID:7829749 11713527 IL6 interleukin 6 gene DOID:8947 diabetic retinopathy ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus; DNA:polymorphism:promoter:-174G>C (human) PMID:19140096|REF_RGD_ID:2307267 11713527 IL6 interleukin 6 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type1;DNA:polymorphism:promoter:-174G>C(human) PMID:19542902|REF_RGD_ID:7829816 11713527 IL6 interleukin 6 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:27085942|PMID:29691718|REF_RGD_ID:11062150|REF_RGD_ID:14975124 11713527 IL6 interleukin 6 gene DOID:9000053 Headache ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7537110 11713527 IL6 interleukin 6 gene DOID:9000099 Experimental Colitis ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:16630696|REF_RGD_ID:8662978 11713527 IL6 interleukin 6 gene DOID:9000099 Experimental Colitis treatment ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:27096537|REF_RGD_ID:11062146 11713527 IL6 interleukin 6 gene DOID:9000099 Experimental Colitis treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:16133010|REF_RGD_ID:11062139 11713527 IL6 interleukin 6 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:25443778|REF_RGD_ID:9831197 11713527 IL6 interleukin 6 gene DOID:9000113 Pneumococcal Meningitis treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:11581077|PMID:8943431|REF_RGD_ID:11060264|REF_RGD_ID:11062107 11713527 IL6 interleukin 6 gene DOID:9000197 Edema ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19874808 11713527 IL6 interleukin 6 gene DOID:9000197 Edema ISO RGD:1352582 D RGD:9068941 20200609 RGD diabetic macular edema associated with Diabetes Mellitus; protein:increased expression:extracellular space (human) PMID:19118698|REF_RGD_ID:2306981 11713527 IL6 interleukin 6 gene DOID:9000217 Stomach Neoplasms ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23593346 11713527 IL6 interleukin 6 gene DOID:9000220 Coxsackievirus Infections ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25396421 11713527 IL6 interleukin 6 gene DOID:9000310 Lung Injury ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19762220 11713527 IL6 interleukin 6 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27157545 11713527 IL6 interleukin 6 gene DOID:9000540 HIV Wasting Syndrome ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 11713527 IL6 interleukin 6 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352582 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:21937440|PMID:26101800 11713527 IL6 interleukin 6 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1352582 D RGD:9068941 20210611 RGD associated with stomach cancer, human cells in mouse model PMID:28186964|REF_RGD_ID:127229952 11713527 IL6 interleukin 6 gene DOID:9000972 Fever ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11852909|PMID:15384034|PMID:7537110 11713527 IL6 interleukin 6 gene DOID:9000972 Fever ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:22042912|REF_RGD_ID:7241096 11713527 IL6 interleukin 6 gene DOID:9000998 Brain Injuries ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19800810|PMID:21549006|PMID:23159883 11713527 IL6 interleukin 6 gene DOID:9000998 Brain Injuries ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (rat) PMID:10027774|REF_RGD_ID:11049549 11713527 IL6 interleukin 6 gene DOID:9001103 Heat Stress Disorders ISO RGD:2901 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:23993269|REF_RGD_ID:11060279 11713527 IL6 interleukin 6 gene DOID:9001191 Cadmium Poisoning ISO RGD:2901 D RGD:9068941 20200609 RGD in males;protein:increased expression, increased activity:plasma (rat) PMID:19462680|REF_RGD_ID:11060270 11713527 IL6 interleukin 6 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:21492407|REF_RGD_ID:10402827 11713527 IL6 interleukin 6 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28864214 11713527 IL6 interleukin 6 gene DOID:9001488 Human Influenza ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:20731583|REF_RGD_ID:4143268 11713527 IL6 interleukin 6 gene DOID:9001542 Albuminuria ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17167242 11713527 IL6 interleukin 6 gene DOID:9001553 Spinal Cord Compression ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid, serum PMID:30327453|REF_RGD_ID:14975119 11713527 IL6 interleukin 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:10802 D RGD:9068941 20201023 RGD mRNA:increased expression:liver (mouse) PMID:28465467|REF_RGD_ID:39939037 11713527 IL6 interleukin 6 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2901 D RGD:9068941 20220331 RGD PMID:24383550|PMID:30346985|REF_RGD_ID:10450610|REF_RGD_ID:151665755 11713527 IL6 interleukin 6 gene DOID:9001585 Intraventricular Hemorrhage ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Premature Birth;protein:increased expression:serum: PMID:22906886|REF_RGD_ID:12792208 11713527 IL6 interleukin 6 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 11713527 IL6 interleukin 6 gene DOID:9001586 Experimental Liver Neoplasms disease_progression ISO RGD:10802 D RGD:9068941 20210423 RGD protein:increased expression:blood serum (mouse) PMID:26569409|REF_RGD_ID:11344640 11713527 IL6 interleukin 6 gene DOID:9001600 Wounds and Injuries ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 11713527 IL6 interleukin 6 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23305094 11713527 IL6 interleukin 6 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1352582 D RGD:9068941 20220922 RGD protein:increased expression:blood serum (human) PMID:32178736|REF_RGD_ID:155230830 11713527 IL6 interleukin 6 gene DOID:9001686 Acute Coronary Syndrome treatment ISO RGD:2901 D RGD:9068941 20220922 RGD PMID:32178736|REF_RGD_ID:155230830 11713527 IL6 interleukin 6 gene DOID:9001708 Hemorrhagic Shock ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 11713527 IL6 interleukin 6 gene DOID:9001708 Hemorrhagic Shock ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21168948|REF_RGD_ID:5128673 11713527 IL6 interleukin 6 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:2901 D RGD:9068941 20200609 RGD mRNA:increased expression:retina: PMID:16530172|REF_RGD_ID:7829807 11713527 IL6 interleukin 6 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16286589 11713527 IL6 interleukin 6 gene DOID:9002096 Foot Injuries ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:18988309|REF_RGD_ID:8662979 11713527 IL6 interleukin 6 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:20643849|REF_RGD_ID:4143255 11713527 IL6 interleukin 6 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:10802 D RGD:9068941 20220930 RGD PMID:32155285|REF_RGD_ID:155260323 11713527 IL6 interleukin 6 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:24752458|REF_RGD_ID:11062134 11713527 IL6 interleukin 6 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) PMID:18716362|REF_RGD_ID:2307282 11713527 IL6 interleukin 6 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:kidney (rat) PMID:19052104|REF_RGD_ID:2307281 11713527 IL6 interleukin 6 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type1;DNA:polymorphism:promoter:-174G>C(human) PMID:19542902|REF_RGD_ID:7829816 11713527 IL6 interleukin 6 gene DOID:9002211 Hyperalgesia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10401557|PMID:18652822|PMID:7582491 11713527 IL6 interleukin 6 gene DOID:9002211 Hyperalgesia ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Foot Injuries; protein:increased expression:serum: PMID:18988309|REF_RGD_ID:8662979 11713527 IL6 interleukin 6 gene DOID:9002211 Hyperalgesia ISO RGD:2901 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal root ganglion PMID:23953943|REF_RGD_ID:10402830 11713527 IL6 interleukin 6 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18006695 11713527 IL6 interleukin 6 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:10870116|REF_RGD_ID:11522755 11713527 IL6 interleukin 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15672864|PMID:17196171|PMID:19011039|PMID:19240160|PMID:25970160 11713527 IL6 interleukin 6 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:26339812|REF_RGD_ID:11062109 11713527 IL6 interleukin 6 gene DOID:9002457 Experimental Arthritis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20131233|PMID:20974942|PMID:22450443 11713527 IL6 interleukin 6 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:10381487|REF_RGD_ID:11049553 11713527 IL6 interleukin 6 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:23503893|PMID:24028507|PMID:8607900|REF_RGD_ID:10755447|REF_RGD_ID:11049551|REF_RGD_ID:11060267 11713527 IL6 interleukin 6 gene DOID:9002633 Premature Obstetric Labor ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20610570|PMID:22122352 11713527 IL6 interleukin 6 gene DOID:9002676 Cerebral Hemorrhage ameliorates ISO RGD:2901 D RGD:9068941 20230504 RGD PMID:31376096|REF_RGD_ID:329337378 11713527 IL6 interleukin 6 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19401270 11713527 IL6 interleukin 6 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:23322593|REF_RGD_ID:12791289 11713527 IL6 interleukin 6 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:oligodendrocytes (rat) PMID:9358769|REF_RGD_ID:2307412 11713527 IL6 interleukin 6 gene DOID:9002765 Systemic Juvenile Rheumatoid Arthritis susceptibility ISO RGD:1352582 D RGD:7240710 20230517 OMIM 11713527 IL6 interleukin 6 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:16429448|REF_RGD_ID:7829818 11713527 IL6 interleukin 6 gene DOID:9002936 Bile Duct Neoplasms disease_progression ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17617204|REF_RGD_ID:2317166 11713527 IL6 interleukin 6 gene DOID:9003104 Intracranial Hemorrhages susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter -174G>C(human) PMID:15331795|REF_RGD_ID:12792203 11713527 IL6 interleukin 6 gene DOID:9003281 Spontaneous Abortions ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11713527 IL6 interleukin 6 gene DOID:9003507 Premature Birth ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26055944 11713527 IL6 interleukin 6 gene DOID:9003676 Brain Hypoxia-Ischemia severity ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism: :174G>C(human) PMID:22117975|REF_RGD_ID:12792241 11713527 IL6 interleukin 6 gene DOID:9003688 Toxoplasma Chorioretinitis susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-174G>C(human) PMID:23336844|REF_RGD_ID:7829805 11713527 IL6 interleukin 6 gene DOID:9003730 Chemical Burns ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 11713527 IL6 interleukin 6 gene DOID:9003737 Ascorbic Acid Deficiency ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:9566989|REF_RGD_ID:1643102 11713527 IL6 interleukin 6 gene DOID:9003817 Sudden Hearing Loss ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:11189185|REF_RGD_ID:7394753 11713527 IL6 interleukin 6 gene DOID:9003817 Sudden Hearing Loss susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.C572G(human) PMID:22385075|REF_RGD_ID:8547982 11713527 IL6 interleukin 6 gene DOID:9003828 Klebsiella Infections treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:8432613|REF_RGD_ID:11062093 11713527 IL6 interleukin 6 gene DOID:9003936 Cardiomegaly ISO RGD:2901 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart PMID:15542404|REF_RGD_ID:1581939 11713527 IL6 interleukin 6 gene DOID:9004009 Reperfusion Injury ISO RGD:10802 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20659747|REF_RGD_ID:4143253 11713527 IL6 interleukin 6 gene DOID:9004009 Reperfusion Injury ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914|PMID:17032661|PMID:18258783|PMID:19673871|PMID:21940958 11713527 IL6 interleukin 6 gene DOID:9004009 Reperfusion Injury ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:20680426|REF_RGD_ID:4143250 11713527 IL6 interleukin 6 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:rs1800795 (human) PMID:27812403|REF_RGD_ID:14975294 11713527 IL6 interleukin 6 gene DOID:9004210 Tympanic Membrane Perforation ISO RGD:2901 D RGD:9068941 20200609 RGD mRNA:increased expression:tympanic membrane: PMID:24012216|REF_RGD_ID:8547981 11713527 IL6 interleukin 6 gene DOID:9004484 Sepsis ISO RGD:1352582 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:32062619 11713527 IL6 interleukin 6 gene DOID:9004484 Sepsis ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:27598601|REF_RGD_ID:14975121 11713527 IL6 interleukin 6 gene DOID:9004484 Sepsis ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; mRNA, protein:increased expression:liver, extracellular space (rat) PMID:19079684|REF_RGD_ID:2307280 11713527 IL6 interleukin 6 gene DOID:9004484 Sepsis treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:25317848|REF_RGD_ID:11062009 11713527 IL6 interleukin 6 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 11713527 IL6 interleukin 6 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1352582 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26101800|PMID:26284488 11713527 IL6 interleukin 6 gene DOID:9004590 Acute Liver Failure treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:27085796|REF_RGD_ID:11062151 11713527 IL6 interleukin 6 gene DOID:9004610 Acute Lung Injury ISO RGD:1352582 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:32062619 11713527 IL6 interleukin 6 gene DOID:9004610 Acute Lung Injury ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:bronchoalveolar lavage, blood, lung (rat) PMID:19995278|REF_RGD_ID:11062103 11713527 IL6 interleukin 6 gene DOID:9004649 Heat Stroke ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 11713527 IL6 interleukin 6 gene DOID:9004713 Acute-Phase Reaction ISO RGD:1352582 D RGD:9068941 20200609 RGD human protein in a rat model PMID:7678052|REF_RGD_ID:11060262 11713527 IL6 interleukin 6 gene DOID:9004912 Hyperoxaluria ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16284884 11713527 IL6 interleukin 6 gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9032749 11713527 IL6 interleukin 6 gene DOID:9004932 Eales Disease ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:22025890|REF_RGD_ID:7829790 11713527 IL6 interleukin 6 gene DOID:9004932 Eales Disease susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-174G>C(human) PMID:22025890|REF_RGD_ID:7829790 11713527 IL6 interleukin 6 gene DOID:9004983 Fetal Inflammatory Response Syndrome ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Premature Birth; PMID:24832219|REF_RGD_ID:12801490 11713527 IL6 interleukin 6 gene DOID:9005106 Animal Toxoplasmosis ISO RGD:10802 D RGD:9068941 20200820 RGD mRNA:increased expression:placenta: PMID:21923716|REF_RGD_ID:38501105 11713527 IL6 interleukin 6 gene DOID:9005172 Lung Neoplasms ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26372664 11713527 IL6 interleukin 6 gene DOID:9005372 Inflammation ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181422|PMID:16227999|PMID:19762220|PMID:19803787|PMID:20056584|PMID:20578705|PMID:20816778|PMID:21467745|PMID:23159501|PMID:23371441|PMID:26297436 11713527 IL6 interleukin 6 gene DOID:9005372 Inflammation treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:25319517|REF_RGD_ID:11060261 11713527 IL6 interleukin 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:24582317|REF_RGD_ID:11049554 11713527 IL6 interleukin 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138235 11713527 IL6 interleukin 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:18976114|REF_RGD_ID:2306984 11713527 IL6 interleukin 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:extracellular space (rat) PMID:19328014|REF_RGD_ID:2307252 11713527 IL6 interleukin 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:20555424|REF_RGD_ID:4142788 11713527 IL6 interleukin 6 gene DOID:9005749 Necrosis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7608651 11713527 IL6 interleukin 6 gene DOID:9005882 Spine Osteoarthritis ISO RGD:1352582 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34697729 11713527 IL6 interleukin 6 gene DOID:9005930 Endotoxemia ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:21396682|REF_RGD_ID:5147765 11713527 IL6 interleukin 6 gene DOID:9005930 Endotoxemia ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; Protein:increased expression:extracellular space (rat) PMID:19449282|REF_RGD_ID:2307179 11713527 IL6 interleukin 6 gene DOID:9005930 Endotoxemia ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:22227956|REF_RGD_ID:6893482 11713527 IL6 interleukin 6 gene DOID:9006024 Hypotension ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15217654|PMID:15384034 11713527 IL6 interleukin 6 gene DOID:9006607 Hemifacial Spasm ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:30684712|REF_RGD_ID:14975126 11713527 IL6 interleukin 6 gene DOID:9006646 Metabolic Syndrome ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16644639 11713527 IL6 interleukin 6 gene DOID:9006741 Acute Hepatitis disease_progression ISO RGD:10802 D RGD:9068941 20210423 RGD protein:increased expression:blood serum (mouse) PMID:26569409|REF_RGD_ID:11344640 11713527 IL6 interleukin 6 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1352582 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 11713527 IL6 interleukin 6 gene DOID:9006827 Lung Reperfusion Injury ameliorates ISO RGD:10802 D RGD:9068941 20220915 RGD PMID:34238924|REF_RGD_ID:153350155 11713527 IL6 interleukin 6 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1352582 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:respiratory system fluid/secretion PMID:14738241|REF_RGD_ID:5128668 11713527 IL6 interleukin 6 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:11349084|REF_RGD_ID:7829813 11713527 IL6 interleukin 6 gene DOID:9007096 Stroke ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18319729 11713527 IL6 interleukin 6 gene DOID:9007096 Stroke ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:14512079|REF_RGD_ID:1580486 11713527 IL6 interleukin 6 gene DOID:9007102 Myocardial Ischemia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16286589 11713527 IL6 interleukin 6 gene DOID:9007271 Hypoalbuminemia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15044820 11713527 IL6 interleukin 6 gene DOID:9007346 Cachexia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17878525 11713527 IL6 interleukin 6 gene DOID:9007346 Cachexia ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Leukemia, T-Cell;protein:increased activity:plasma (rat) PMID:9110147|REF_RGD_ID:11062106 11713527 IL6 interleukin 6 gene DOID:9007355 Hashimoto Disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 11713527 IL6 interleukin 6 gene DOID:9007355 Hashimoto Disease ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-572C>G(human) PMID:21235536|REF_RGD_ID:7829719 11713527 IL6 interleukin 6 gene DOID:9007367 Septic Peritonitis ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:19897171|REF_RGD_ID:11062137 11713527 IL6 interleukin 6 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15763341|PMID:7532385 11713527 IL6 interleukin 6 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 11713527 IL6 interleukin 6 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 11713527 IL6 interleukin 6 gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:10802 D RGD:9068941 20200702 RGD PMID:27175332|REF_RGD_ID:32733623 11713527 IL6 interleukin 6 gene DOID:9007480 Hyperoxia ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:20663297|REF_RGD_ID:4143252 11713527 IL6 interleukin 6 gene DOID:9007588 Heart Injuries ameliorates ISO RGD:10802 D RGD:9068941 20230330 RGD associated with obesity PMID:32084395|REF_RGD_ID:242905211 11713527 IL6 interleukin 6 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1352582 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:23593346|PMID:26101800 11713527 IL6 interleukin 6 gene DOID:9007692 Insulin Resistance ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:extracellular space (rat) PMID:19328014|REF_RGD_ID:2307252 11713527 IL6 interleukin 6 gene DOID:9007692 Insulin Resistance ISO RGD:2901 D RGD:9068941 20200609 RGD mRNA:increased expression:islet of Langerhans PMID:21826222|REF_RGD_ID:10402828 11713527 IL6 interleukin 6 gene DOID:9007730 Burns ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10431976|PMID:18277951 11713527 IL6 interleukin 6 gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:11959089|REF_RGD_ID:11062110 11713527 IL6 interleukin 6 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2901 D RGD:9068941 20220929 RGD PMID:27087891|PMID:31583047|REF_RGD_ID:11062149|REF_RGD_ID:155230831 11713527 IL6 interleukin 6 gene DOID:9007925 Sudden Cardiac Death susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:23906927|REF_RGD_ID:12792237 11713527 IL6 interleukin 6 gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:10802 D RGD:9068941 20200828 RGD mRNA:altered expression:gastric antrum (mouse) PMID:29085807|REF_RGD_ID:38549349 11713527 IL6 interleukin 6 gene DOID:9008414 Pulmonary Contusion ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:bronchoalveolar lavage fluid (rat) PMID:16044083|REF_RGD_ID:11060268 11713527 IL6 interleukin 6 gene DOID:9008523 Subretinal Fibrosis ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:24790857|REF_RGD_ID:10402815 11713527 IL6 interleukin 6 gene DOID:9008614 Cardiovascular Pregnancy Complications ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10716473 11713527 IL6 interleukin 6 gene DOID:9008652 Postoperative Atrial Fibrillation disease_progression ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:18946567|REF_RGD_ID:9495910 11713527 IL6 interleukin 6 gene DOID:9008691 Liver Injury ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:16549690|REF_RGD_ID:11060263 11713527 IL6 interleukin 6 gene DOID:9008691 Liver Injury treatment ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Myocardial Reperfusion Injury PMID:27109160|REF_RGD_ID:11062142 11713527 IL6 interleukin 6 gene DOID:9008763 Femoral Fractures ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21442011|REF_RGD_ID:5131471 11713527 IL6 interleukin 6 gene DOID:9008824 Sarcopenia ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:12919235|REF_RGD_ID:10045859 11713527 IL6 interleukin 6 gene DOID:9008865 Entamoebiasis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16374615 11713527 IL6 interleukin 6 gene DOID:9008939 Breast Neoplasms ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037|PMID:17516992|PMID:19435922|PMID:19446661 11713527 IL6 interleukin 6 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with obesity;DNA:polymorphism:promoter:-174G>C(human) PMID:11426023|REF_RGD_ID:7829718 11713527 IL6 interleukin 6 gene DOID:9008967 Brain Concussion treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:27113205|REF_RGD_ID:11062140 11713527 IL6 interleukin 6 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18500730 11713527 IL6 interleukin 6 gene DOID:9065 leishmaniasis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16540374 11713527 IL6 interleukin 6 gene DOID:9074 systemic lupus erythematosus ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18158872 11713527 IL6 interleukin 6 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:23357299|REF_RGD_ID:11046264 11713527 IL6 interleukin 6 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1352582 D RGD:9068941 20200609 RGD human protein in a rat model PMID:8892684|REF_RGD_ID:11062010 11713527 IL6 interleukin 6 gene DOID:9146 visceral leishmaniasis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17404324|PMID:22461696|PMID:7554475 11713527 IL6 interleukin 6 gene DOID:9256 colorectal cancer ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-174G>C (human) PMID:28349833|REF_RGD_ID:14975287 11713527 IL6 interleukin 6 gene DOID:9351 diabetes mellitus ISO RGD:10802 D RGD:9068941 20200609 RGD mRNA:decreased expression:dendritic cell (mouse) PMID:19120268|REF_RGD_ID:2307278 11713527 IL6 interleukin 6 gene DOID:9351 diabetes mellitus ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Dementia; protein:increased expression:brain (human) PMID:19139294|REF_RGD_ID:2307273 11713527 IL6 interleukin 6 gene DOID:9351 diabetes mellitus ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:extracellular space (human) PMID:19442860|REF_RGD_ID:2307180 11713527 IL6 interleukin 6 gene DOID:9351 diabetes mellitus susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-174G>C (human) PMID:18689695|REF_RGD_ID:2307293 11713527 IL6 interleukin 6 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO PMID:10720087|PMID:11001912|PMID:11889177|PMID:12519862|PMID:12560873|PMID:12719374|PMID:15070960|PMID:15331795|PMID:15472205|PMID:16150725|PMID:16278864|PMID:17623760|PMID:9769329 11713527 IL6 interleukin 6 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1352582 D RGD:7240710 20230517 OMIM 11713527 IL6 interleukin 6 gene DOID:9402 epididymitis ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:29311626|REF_RGD_ID:13792835 11713527 IL6 interleukin 6 gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:2901 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 11713527 IL6 interleukin 6 gene DOID:9452 fatty liver disease ISO RGD:10802 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus; protein:increased expression:extracellular space (mouse) PMID:19205029|REF_RGD_ID:2307258 11713527 IL6 interleukin 6 gene DOID:9452 fatty liver disease ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:liver, extracellular space (rat) PMID:19076162|REF_RGD_ID:2307264 11713527 IL6 interleukin 6 gene DOID:9538 multiple myeloma ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12855565|PMID:19330649|PMID:8520508 11713527 IL6 interleukin 6 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352582 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 11713527 IL6 interleukin 6 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:vitreous: PMID:1800167|REF_RGD_ID:7829748 11713527 IL6 interleukin 6 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1352582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, type 1, susceptibility to PMID:10720087|PMID:11001912|PMID:11889177|PMID:12519862|PMID:12560873|PMID:12719374|PMID:15070960|PMID:15331795|PMID:15472205|PMID:16150725|PMID:16278864|PMID:17623760|PMID:9769329 11713527 IL6 interleukin 6 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1352582 D RGD:7240710 20230517 OMIM 11713527 IL6 interleukin 6 gene DOID:9970 obesity ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20141834|PMID:24042701 11713527 IL6 interleukin 6 gene DOID:9970 obesity ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism>promoter:174G>C PMID:16493118|REF_RGD_ID:1601582 11713527 IL6 interleukin 6 gene DOID:9970 obesity ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) PMID:19228869|REF_RGD_ID:2307257 11713527 IL6 interleukin 6 gene DOID:9970 obesity ISO RGD:2901 D RGD:9068941 20200609 RGD mRNA:increased expression:islet of Langerhans PMID:21826222|REF_RGD_ID:10402828 11713536 SHISA8 shisa family member 8 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1345156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11713536 SHISA8 shisa family member 8 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1345156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 11713536 SHISA8 shisa family member 8 gene DOID:630 genetic disease ISO RGD:1345156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713543 SLA2 Src like adaptor 2 gene DOID:2234 focal epilepsy ISO RGD:1320351 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11713543 SLA2 Src like adaptor 2 gene DOID:630 genetic disease ISO RGD:1320351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713564 TP53AIP1 tumor protein p53 regulated apoptosis inducing protein 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1625644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11713564 TP53AIP1 tumor protein p53 regulated apoptosis inducing protein 1 gene DOID:5419 schizophrenia ISO RGD:1625644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11713564 TP53AIP1 tumor protein p53 regulated apoptosis inducing protein 1 gene DOID:630 genetic disease ISO RGD:1625644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713564 TP53AIP1 tumor protein p53 regulated apoptosis inducing protein 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1625644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11713564 TP53AIP1 tumor protein p53 regulated apoptosis inducing protein 1 gene DOID:9007661 Dwarfism ISO RGD:1625644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11713579 PRPH peripherin gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:733911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:25741868 11713579 PRPH peripherin gene DOID:0060193 amyotrophic lateral sclerosis type 1 susceptibility ISO RGD:733911 D RGD:7240710 20230505 OMIM 11713579 PRPH peripherin gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:733911 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 PMID:25741868 11713579 PRPH peripherin gene DOID:332 amyotrophic lateral sclerosis ISO RGD:733911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to PMID:15322088|PMID:15446584|PMID:25741868|PMID:28492532 11713579 PRPH peripherin gene DOID:630 genetic disease ISO RGD:733911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11713601 NXPH2 neurexophilin 2 gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1344701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 11713601 NXPH2 neurexophilin 2 gene DOID:5119 ovarian cyst ISO RGD:1344701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 11713601 NXPH2 neurexophilin 2 gene DOID:630 genetic disease ISO RGD:1344701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0050635 alternating hemiplegia of childhood ISO RGD:732644 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Alternating hemiplegia of childhood PMID:24033266|PMID:25741868 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0050835 generalized dystonia ISO RGD:732644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia 12 PMID:11061257|PMID:12112218|PMID:14499619|PMID:15260953|PMID:15364580|PMID:15390049|PMID:16199547|PMID:16632466|PMID:17282997|PMID:17516473|PMID:17576681|PMID:17595045|PMID:18414213|PMID:19351654|PMID:19652145|PMID:19936820|PMID:20301294|PMID:20558373|PMID:20576601|PMID:21911500|PMID:22534615|PMID:22842232|PMID:22850527|PMID:22924536|PMID:23409136|PMID:23483595|PMID:23681173|PMID:24088041|PMID:24100174|PMID:24123283|PMID:24431296|PMID:24468074|PMID:24523486|PMID:24631656|PMID:24739246|PMID:24793181|PMID:24842602|PMID:24983657|PMID:24996492|PMID:25056583|PMID:25359261|PMID:25439493|PMID:25447930|PMID:25523819|PMID:25624492|PMID:25640679|PMID:25656163|PMID:25681536|PMID:25741868|PMID:25895915|PMID:25996915|PMID:26297560|PMID:26400718|PMID:26410222|PMID:26417536|PMID:26453127|PMID:26467025|PMID:26633545|PMID:26990090|PMID:26993267|PMID:27146299|PMID:27268479|PMID:27549929|PMID:27626066|PMID:27634470|PMID:27726050|PMID:28214263|PMID:28293679|PMID:28441826|PMID:28492532|PMID:28500446|PMID:28637637|PMID:28849312|PMID:28901192|PMID:29066118|PMID:29269014|PMID:29302074|PMID:29305691|PMID:29397530|PMID:29801192|PMID:29915382|PMID:30071271|PMID:30392204|PMID:30657467|PMID:31031587|PMID:31361359|PMID:31425744|PMID:31616254|PMID:31618474|PMID:31942761|PMID:32454213|PMID:32581362|PMID:32653672|PMID:32895939|PMID:32963807|PMID:33446253|PMID:33451880|PMID:33868146|PMID:34008892|PMID:34342181|PMID:34906502|PMID:35047275|PMID:5996915|PMID:8255463|PMID:8733056|PMID:9109901|PMID:9536098 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0050842 oculogyric crisis ISO RGD:732644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oculogyric crisis PMID:15260953|PMID:20301294|PMID:21911500|PMID:22842232|PMID:22850527|PMID:23409136|PMID:24100174|PMID:24431296|PMID:24631656|PMID:24842602|PMID:25523819|PMID:25681536|PMID:25741868|PMID:25996915|PMID:26410222|PMID:26417536|PMID:26633545|PMID:28293679|PMID:28492532|PMID:28637637|PMID:30071271|PMID:32581362 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0050888 syndromic intellectual disability ISO RGD:732644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0060041 autism spectrum disorder ISO RGD:732644 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:732644 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy PMID:25741868 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0080855 Parkinsonism ISO RGD:732644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15260953 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0090056 dystonia 12 ISO RGD:732644 D RGD:7240710 20180130 OMIM 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0090056 dystonia 12 ISO RGD:732644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dystonia 12 | ClinVar Annotator: match by term: Rapid-Onset Dystonia-Parkinsonism PMID:11061257|PMID:12112218|PMID:14499619|PMID:15260953|PMID:15364580|PMID:15390049|PMID:16199547|PMID:16632466|PMID:17282997|PMID:17516473|PMID:17576681|PMID:17595045|PMID:18414213|PMID:19351654|PMID:19652145|PMID:19936820|PMID:20301294|PMID:20558373|PMID:20576601|PMID:21911500|PMID:22534615|PMID:22842232|PMID:22850527|PMID:22924536|PMID:23409136|PMID:23483595|PMID:23681173|PMID:24100174|PMID:24123283|PMID:24431296|PMID:24468074|PMID:24523486|PMID:24631656|PMID:24739246|PMID:24793181|PMID:24842602|PMID:24983657|PMID:24996492|PMID:25056583|PMID:25359261|PMID:25439493|PMID:25447930|PMID:25523819|PMID:25624492|PMID:25640679|PMID:25656163|PMID:25681536|PMID:25741868|PMID:25895915|PMID:25996915|PMID:26297560|PMID:26400718|PMID:26410222|PMID:26417536|PMID:26453127|PMID:26467025|PMID:26633545|PMID:26990090|PMID:26993267|PMID:27146299|PMID:27268479|PMID:27549929|PMID:27626066|PMID:27634470|PMID:27726050|PMID:28214263|PMID:28293679|PMID:28441826|PMID:28492532|PMID:28500446|PMID:28637637|PMID:28647130|PMID:28849312|PMID:28901192|PMID:29066118|PMID:29269014|PMID:29302074|PMID:29305691|PMID:29397530|PMID:29801192|PMID:29915382|PMID:30071271|PMID:30283815|PMID:30392204|PMID:30657467|PMID:31031587|PMID:31361359|PMID:31425744|PMID:31616254|PMID:31618474|PMID:31942761|PMID:32454213|PMID:32581362|PMID:32653672|PMID:32895939|PMID:32963807|PMID:33446253|PMID:33451880|PMID:33868146|PMID:34008892|PMID:34342181|PMID:34906502|PMID:35047275|PMID:5996915|PMID:8255463|PMID:8733056|PMID:9109901|PMID:9536098 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:10485 esophageal atresia ISO RGD:732644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:1059 intellectual disability ISO RGD:732644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:10908 hydrocephalus ISO RGD:732644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:22842232|PMID:25741868|PMID:26297560|PMID:26410222|PMID:28492532 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:10969 hemiplegia ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hemiplegia PMID:20301294|PMID:21911500|PMID:22842232|PMID:22850527|PMID:23409136|PMID:24100174|PMID:24523486|PMID:24631656|PMID:24842602|PMID:24996492|PMID:25447930|PMID:25681536|PMID:25741868|PMID:25996915|PMID:26410222|PMID:26993267|PMID:28293679|PMID:28492532|PMID:28637637|PMID:30071271|PMID:30657467 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:12835 quadriplegia ISO RGD:732644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Quadriparesis PMID:15260953|PMID:22842232|PMID:22850527|PMID:23409136|PMID:24100174|PMID:24431296|PMID:24631656|PMID:24842602|PMID:25523819|PMID:25681536|PMID:25741868|PMID:25996915|PMID:26410222|PMID:26417536|PMID:26633545|PMID:28293679|PMID:28492532|PMID:32581362 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:1342 congenital hypoplastic anemia ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:1826 epilepsy ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:20301294|PMID:21911500|PMID:22842232|PMID:22850527|PMID:23409136|PMID:24100174|PMID:24523486|PMID:24631656|PMID:24842602|PMID:24996492|PMID:25447930|PMID:25681536|PMID:25741868|PMID:25996915|PMID:26297560|PMID:26410222|PMID:26993267|PMID:28293679|PMID:28492532|PMID:28637637|PMID:30071271|PMID:30392204|PMID:30657467|PMID:31031587 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:2340 craniosynostosis ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:28492532 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:2468 psychotic disorder ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Juvenile onset psychosis PMID:25741868|PMID:27626066 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:3312 bipolar disorder ISO RGD:10207 D RGD:9068941 20220825 MouseDO 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:3312 bipolar disorder ISO RGD:732644 D RGD:9068941 20200609 RGD PMID:9646882|REF_RGD_ID:1358437 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:5419 schizophrenia ISO RGD:732644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:543 dystonia ISO RGD:732644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:15260953|PMID:20301294|PMID:21911500|PMID:22842232|PMID:22850527|PMID:23409136|PMID:24100174|PMID:24431296|PMID:24631656|PMID:24842602|PMID:25523819|PMID:25681536|PMID:25741868|PMID:25996915|PMID:26410222|PMID:26417536|PMID:26633545|PMID:28293679|PMID:28492532|PMID:28637637|PMID:30071271|PMID:32581362 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:6000 congestive heart failure ISO RGD:732644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18418421 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:630 genetic disease ISO RGD:732644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14499619|PMID:15260953|PMID:15364580|PMID:20301294|PMID:21911500|PMID:22842232|PMID:22850527|PMID:22924536|PMID:23409136|PMID:24100174|PMID:24431296|PMID:24468074|PMID:24523486|PMID:24631656|PMID:24793181|PMID:24842602|PMID:25056583|PMID:25523819|PMID:25624492|PMID:25681536|PMID:25741868|PMID:25895915|PMID:25996915|PMID:26400718|PMID:26410222|PMID:26417536|PMID:26453127|PMID:26633545|PMID:27268479|PMID:27634470|PMID:27726050|PMID:28293679|PMID:28441826|PMID:28492532|PMID:28500446|PMID:28637637|PMID:28647130|PMID:29066118|PMID:29302074|PMID:29305691|PMID:29397530|PMID:29913018|PMID:29915382|PMID:30071271|PMID:31425744|PMID:31616254|PMID:31618474|PMID:32581362|PMID:34008892|PMID:34342181|PMID:35047275|PMID:5996915|PMID:8733056 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:8398 osteoarthritis ISO RGD:732644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9000419 Benign Familial Neonatal Seizures, 1 ISO RGD:732644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9001126 Developmental and Epileptic Encephalopathy 99 ISO RGD:732644 D RGD:7240710 20211201 OMIM 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9001126 Developmental and Epileptic Encephalopathy 99 ISO RGD:732644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 99 PMID:15260953|PMID:20301294|PMID:21911500|PMID:22842232|PMID:22850527|PMID:23409136|PMID:24100174|PMID:24431296|PMID:24631656|PMID:24842602|PMID:25523819|PMID:25681536|PMID:25741868|PMID:25996915|PMID:26410222|PMID:26417536|PMID:26467025|PMID:26633545|PMID:28293679|PMID:28492532|PMID:28637637|PMID:30071271|PMID:32581362|PMID:33880529 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9001300 Alternating Hemiplegia of Childhood 2 ISO RGD:732644 D RGD:7240710 20180130 OMIM 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9001300 Alternating Hemiplegia of Childhood 2 ISO RGD:732644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alternating hemiplegia of childhood 2 PMID:11061257|PMID:12112218|PMID:15260953|PMID:15390049|PMID:16199547|PMID:16632466|PMID:17282997|PMID:17516473|PMID:17576681|PMID:17595045|PMID:18414213|PMID:19652145|PMID:20301294|PMID:20576601|PMID:21911500|PMID:22534615|PMID:22842232|PMID:22850527|PMID:22924536|PMID:23409136|PMID:23483595|PMID:24100174|PMID:24123283|PMID:24431296|PMID:24468074|PMID:24523486|PMID:24631656|PMID:24793181|PMID:24842602|PMID:24983657|PMID:24996492|PMID:25056583|PMID:25447930|PMID:25523819|PMID:25656163|PMID:25681536|PMID:25741868|PMID:25895915|PMID:25996915|PMID:26297560|PMID:26400718|PMID:26410222|PMID:26417536|PMID:26453127|PMID:26467025|PMID:26633545|PMID:26993267|PMID:27146299|PMID:27268479|PMID:27626066|PMID:27634470|PMID:27726050|PMID:28293679|PMID:28441826|PMID:28492532|PMID:28500446|PMID:28637637|PMID:28647130|PMID:28849312|PMID:28901192|PMID:29066118|PMID:29302074|PMID:29305691|PMID:29397530|PMID:29915382|PMID:30071271|PMID:30657467|PMID:31425744|PMID:31616254|PMID:31942761|PMID:32454213|PMID:32581362|PMID:34008892|PMID:34342181|PMID:35047275|PMID:8733056|PMID:9536098 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:732644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18418421 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9001793 Generalized Epilepsy ISO RGD:732644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:32581362 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9007693 CAPOS Syndrome ISO RGD:732644 D RGD:7240710 20180130 OMIM 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9007693 CAPOS Syndrome ISO RGD:732644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CAPOS syndrome | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss PMID:15260953|PMID:18414213|PMID:19652145|PMID:20301294|PMID:20576601|PMID:21911500|PMID:22842232|PMID:22850527|PMID:22924536|PMID:23409136|PMID:23483595|PMID:24100174|PMID:24431296|PMID:24468074|PMID:24523486|PMID:24631656|PMID:24793181|PMID:24842602|PMID:24996492|PMID:25056583|PMID:25326637|PMID:25447930|PMID:25523819|PMID:25681536|PMID:25741868|PMID:25895915|PMID:25996915|PMID:26400718|PMID:26410222|PMID:26417536|PMID:26453127|PMID:26467025|PMID:26633545|PMID:26993267|PMID:27268479|PMID:27634470|PMID:27726050|PMID:28293679|PMID:28441826|PMID:28492532|PMID:28500446|PMID:28637637|PMID:28647130|PMID:28708303|PMID:28849312|PMID:28901192|PMID:29066118|PMID:29305691|PMID:29397530|PMID:30071271|PMID:30657467|PMID:32581362|PMID:34008892|PMID:34342181|PMID:35047275|PMID:8733056 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9008086 Developmental Disabilities ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:20301294|PMID:21911500|PMID:22842232|PMID:22850527|PMID:23409136|PMID:24631656|PMID:24842602|PMID:25681536|PMID:25741868|PMID:25996915|PMID:26410222|PMID:28293679|PMID:28492532|PMID:28637637|PMID:30071271 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9008675 Dyskinesias ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskinesia PMID:20301294|PMID:21911500|PMID:22842232|PMID:22850527|PMID:23409136|PMID:24631656|PMID:24842602|PMID:25681536|PMID:25741868|PMID:25996915|PMID:26410222|PMID:28293679|PMID:28492532|PMID:28637637|PMID:30071271 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9009131 Ventriculomegaly ISO RGD:732644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:22842232|PMID:25741868|PMID:26297560|PMID:26410222|PMID:28492532 11713607 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9269 maple syrup urine disease ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11713632 KLHL4 kelch like family member 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11713632 KLHL4 kelch like family member 4 gene DOID:12849 autistic disorder ISO RGD:1349490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11713632 KLHL4 kelch like family member 4 gene DOID:630 genetic disease ISO RGD:1349490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713650 WDR19 WD repeat domain 19 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1353133 D RGD:9068941 20200609 RGD DNA:missense mutations, frameshift mutations, snp:multiple (human) PMID:23683095|REF_RGD_ID:11552600 11713650 WDR19 WD repeat domain 19 gene DOID:0050577 cranioectodermal dysplasia ISO RGD:1353133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia PMID:22019273|PMID:23559409|PMID:23683095|PMID:25726036|PMID:25741868|PMID:26260382|PMID:26275793|PMID:27241786|PMID:27596865|PMID:28492532|PMID:28621010|PMID:29068549|PMID:32165824 11713650 WDR19 WD repeat domain 19 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1353133 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:26489029|PMID:27241786|PMID:28492532|PMID:28973083|PMID:29068549 11713650 WDR19 WD repeat domain 19 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1353133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:24504730|PMID:25726036|PMID:25741868|PMID:26275793|PMID:26489029|PMID:27241786|PMID:28492532|PMID:28973083|PMID:29068549 11713650 WDR19 WD repeat domain 19 gene DOID:0050795 cone dystrophy ISO RGD:1353133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:27241786|PMID:28492532|PMID:29068549 11713650 WDR19 WD repeat domain 19 gene DOID:0050876 Caroli disease ISO RGD:1353133 D RGD:9068941 20200609 RGD associated with Nephronophthisis 13;DNA:missense mutations:cds:multiple (human) PMID:25726036|REF_RGD_ID:11528287 11713650 WDR19 WD repeat domain 19 gene DOID:0060340 ciliopathy ISO RGD:1549987 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L750P (mouse) PMID:22228095|REF_RGD_ID:11552606 11713650 WDR19 WD repeat domain 19 gene DOID:0060340 ciliopathy ISO RGD:1549987 D RGD:9068941 20220825 MouseDO 11713650 WDR19 WD repeat domain 19 gene DOID:0080806 cranioectodermal dysplasia 4 ISO RGD:1353133 D RGD:7240710 20180130 OMIM 11713650 WDR19 WD repeat domain 19 gene DOID:0080806 cranioectodermal dysplasia 4 ISO RGD:1353133 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 4 PMID:17576681|PMID:22019273|PMID:23559409|PMID:23683095|PMID:24027799|PMID:24027800|PMID:25726036|PMID:25741868|PMID:26260382|PMID:26275793|PMID:27241786|PMID:27596865|PMID:28492532|PMID:28621010|PMID:29068549|PMID:31725169|PMID:32165824|PMID:33517396|PMID:34295353|PMID:9536098 11713650 WDR19 WD repeat domain 19 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1353133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:27241786|PMID:28492532|PMID:28973083|PMID:29068549 11713650 WDR19 WD repeat domain 19 gene DOID:0110089 asphyxiating thoracic dystrophy 5 ISO RGD:1353133 D RGD:7240710 20180130 OMIM 11713650 WDR19 WD repeat domain 19 gene DOID:0110089 asphyxiating thoracic dystrophy 5 ISO RGD:1353133 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 5 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY PMID:16199547|PMID:17576681|PMID:19430947|PMID:22019273|PMID:23559409|PMID:23683095|PMID:24027799|PMID:24027800|PMID:24504730|PMID:25726036|PMID:25741868|PMID:26260382|PMID:26275793|PMID:26355662|PMID:26489029|PMID:27241786|PMID:27596865|PMID:28492532|PMID:28621010|PMID:28973083|PMID:29068549|PMID:29801666|PMID:30266093|PMID:31054281|PMID:31725169|PMID:31837199|PMID:32037395|PMID:32165824|PMID:33002628|PMID:33517396|PMID:33532864|PMID:34295353|PMID:9536098 11713650 WDR19 WD repeat domain 19 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1353133 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:25741868|PMID:33002628|PMID:33532864 11713650 WDR19 WD repeat domain 19 gene DOID:0111121 nephronophthisis 13 ISO RGD:1353133 D RGD:7240710 20180130 OMIM 11713650 WDR19 WD repeat domain 19 gene DOID:0111121 nephronophthisis 13 ISO RGD:1353133 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Nephronophthisis 13 PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:25726036|PMID:25741868|PMID:25741897|PMID:26260382|PMID:26275793|PMID:26489029|PMID:27241786|PMID:27596865|PMID:28492532|PMID:28621010|PMID:28973083|PMID:29068549|PMID:32165824|PMID:33002628|PMID:33532864 11713650 WDR19 WD repeat domain 19 gene DOID:10584 retinitis pigmentosa ISO RGD:1353133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 11713650 WDR19 WD repeat domain 19 gene DOID:1059 intellectual disability ISO RGD:1353133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11713650 WDR19 WD repeat domain 19 gene DOID:14791 Leber congenital amaurosis ISO RGD:1353133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:23559409|PMID:25726036|PMID:25741868|PMID:26260382|PMID:27596865|PMID:28492532|PMID:28621010|PMID:32165824 11713650 WDR19 WD repeat domain 19 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353133 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532 11713650 WDR19 WD repeat domain 19 gene DOID:630 genetic disease ISO RGD:1353133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:27241786|PMID:28492532|PMID:29068549 11713650 WDR19 WD repeat domain 19 gene DOID:65 connective tissue disease ISO RGD:1353133 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:16199547|PMID:17576681|PMID:22019273|PMID:23559409|PMID:23683095|PMID:24027799|PMID:24027800|PMID:25741868|PMID:26275793|PMID:26489029|PMID:27241786|PMID:28492532|PMID:29068549|PMID:33517396|PMID:9536098 11713650 WDR19 WD repeat domain 19 gene DOID:8501 fundus dystrophy ISO RGD:1353133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:26489029|PMID:27241786|PMID:28492532|PMID:29068549|PMID:34295353 11713650 WDR19 WD repeat domain 19 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1353133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 11713650 WDR19 WD repeat domain 19 gene DOID:9004444 Senior-Loken Syndrome 8 ISO RGD:1353133 D RGD:7240710 20180130 OMIM 11713650 WDR19 WD repeat domain 19 gene DOID:9004444 Senior-Loken Syndrome 8 ISO RGD:1353133 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 8 PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:24027799|PMID:24027800|PMID:25726036|PMID:25741868|PMID:26260382|PMID:26275793|PMID:26489029|PMID:27241786|PMID:27596865|PMID:28492532|PMID:28621010|PMID:28973083|PMID:29068549|PMID:29801666|PMID:32165824|PMID:33002628|PMID:33517396|PMID:33532864|PMID:34295353 11713650 WDR19 WD repeat domain 19 gene DOID:9005229 Spermatogenic Failure 72 ISO RGD:1353133 D RGD:7240710 20220518 OMIM 11713650 WDR19 WD repeat domain 19 gene DOID:9005229 Spermatogenic Failure 72 ISO RGD:1353133 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 72 PMID:32323121 11713650 WDR19 WD repeat domain 19 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1353133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:28492532|PMID:31837199 11713650 WDR19 WD repeat domain 19 gene DOID:9249 Beemer-Langer syndrome ISO RGD:1353133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:26275793|PMID:27241786|PMID:28492532|PMID:29068549 11713691 ABHD8 abhydrolase domain containing 8 gene DOID:630 genetic disease ISO RGD:1313870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713699 TMEM14A transmembrane protein 14A gene DOID:630 genetic disease ISO RGD:1317058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713711 N4BP2L1 NEDD4 binding protein 2 like 1 gene DOID:630 genetic disease ISO RGD:1604555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713736 DNAH7 dynein axonemal heavy chain 7 gene DOID:0060041 autism spectrum disorder ISO RGD:1317528 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11713736 DNAH7 dynein axonemal heavy chain 7 gene DOID:12849 autistic disorder ISO RGD:1317528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 11713736 DNAH7 dynein axonemal heavy chain 7 gene DOID:1826 epilepsy ISO RGD:1317528 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11713736 DNAH7 dynein axonemal heavy chain 7 gene DOID:630 genetic disease ISO RGD:1317528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713736 DNAH7 dynein axonemal heavy chain 7 gene DOID:9003633 Primary Ciliary Dyskinesia 50 ISO RGD:1317528 D RGD:7240710 20230505 OMIM 11713736 DNAH7 dynein axonemal heavy chain 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11713736 DNAH7 dynein axonemal heavy chain 7 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317528 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11713803 THTPA thiamine triphosphatase gene DOID:0060439 lysinuric protein intolerance ISO RGD:1344933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11713803 THTPA thiamine triphosphatase gene DOID:0081075 Marsili syndrome ISO RGD:1344933 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal dominant PMID:25741868|PMID:29253101 11713803 THTPA thiamine triphosphatase gene DOID:630 genetic disease ISO RGD:1344933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713803 THTPA thiamine triphosphatase gene DOID:9000265 Specific Granule Deficiency ISO RGD:1344933 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11713803 THTPA thiamine triphosphatase gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1344933 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11713827 RBBP5 RB binding protein 5, histone lysine methyltransferase complex subunit gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1313612 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11713827 RBBP5 RB binding protein 5, histone lysine methyltransferase complex subunit gene DOID:12849 autistic disorder ISO RGD:1313612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11713827 RBBP5 RB binding protein 5, histone lysine methyltransferase complex subunit gene DOID:1540 parathyroid carcinoma ISO RGD:1313612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11713827 RBBP5 RB binding protein 5, histone lysine methyltransferase complex subunit gene DOID:630 genetic disease ISO RGD:1313612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713827 RBBP5 RB binding protein 5, histone lysine methyltransferase complex subunit gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1313612 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11713827 RBBP5 RB binding protein 5, histone lysine methyltransferase complex subunit gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11713859 PROSER2 proline and serine rich 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1351835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11713859 PROSER2 proline and serine rich 2 gene DOID:630 genetic disease ISO RGD:1351835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713869 USF2 upstream transcription factor 2, c-fos interacting gene DOID:0110222 Brugada syndrome 5 ISO RGD:734370 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11713869 USF2 upstream transcription factor 2, c-fos interacting gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:734370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11713869 USF2 upstream transcription factor 2, c-fos interacting gene DOID:10283 prostate cancer ISO RGD:734370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11713869 USF2 upstream transcription factor 2, c-fos interacting gene DOID:543 dystonia ISO RGD:734370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11713869 USF2 upstream transcription factor 2, c-fos interacting gene DOID:630 genetic disease ISO RGD:734370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713878 GPC4 glypican 4 gene DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 ISO RGD:1347282 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11713878 GPC4 glypican 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11713878 GPC4 glypican 4 gene DOID:0111842 Keipert syndrome ISO RGD:1347282 D RGD:7240710 20190626 OMIM 11713878 GPC4 glypican 4 gene DOID:0111842 Keipert syndrome ISO RGD:1347282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keipert syndrome PMID:25741868|PMID:30982611|PMID:4708024 11713878 GPC4 glypican 4 gene DOID:12849 autistic disorder ISO RGD:1347282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11713878 GPC4 glypican 4 gene DOID:2154 nephroblastoma ISO RGD:1347282 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11713878 GPC4 glypican 4 gene DOID:630 genetic disease ISO RGD:1347282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713878 GPC4 glypican 4 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1347282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:31292255 11713878 GPC4 glypican 4 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1347282 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 11713910 IGDCC3 immunoglobulin superfamily DCC subclass member 3 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1316476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11713910 IGDCC3 immunoglobulin superfamily DCC subclass member 3 gene DOID:2717 Bloom syndrome ISO RGD:1316476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11713910 IGDCC3 immunoglobulin superfamily DCC subclass member 3 gene DOID:630 genetic disease ISO RGD:1316476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713910 IGDCC3 immunoglobulin superfamily DCC subclass member 3 gene DOID:9256 colorectal cancer ISO RGD:1316476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11713948 GABRG1 gamma-aminobutyric acid type A receptor subunit gamma1 gene DOID:10283 prostate cancer ISO RGD:732733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11713948 GABRG1 gamma-aminobutyric acid type A receptor subunit gamma1 gene DOID:12098 trigeminal neuralgia ISO RGD:737444 D RGD:9068941 20220825 MouseDO OMIM:190400 11713948 GABRG1 gamma-aminobutyric acid type A receptor subunit gamma1 gene DOID:630 genetic disease ISO RGD:732733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713961 SYMPK symplekin scaffold protein gene DOID:630 genetic disease ISO RGD:1315523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11713961 SYMPK symplekin scaffold protein gene DOID:9000217 Stomach Neoplasms ISO RGD:1315523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11713961 SYMPK symplekin scaffold protein gene DOID:9000918 Disease Progression ISO RGD:1315523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11714007 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:0050866 oral squamous cell carcinoma treatment ISO RGD:1349944 D RGD:9068941 20220526 RGD PMID:21176871|REF_RGD_ID:152600900 11714007 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:1612 breast cancer susceptibility ISO RGD:1349944 D RGD:9068941 20220526 RGD DNA:SNP: :rs989902(human) PMID:24338422|REF_RGD_ID:152599188 11714007 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:219 colon cancer treatment ISO RGD:1349944 D RGD:9068941 20220527 RGD PMID:29899829|REF_RGD_ID:152975627 11714007 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:224 transient cerebral ischemia ISO RGD:1563360 D RGD:9068941 20220527 RGD mRNA,protein:increased expression:cerebral cortex: PMID:18096138|REF_RGD_ID:4142863 11714007 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:3717 gastric adenocarcinoma ISO RGD:1349944 D RGD:9068941 20220526 RGD protein:increased expression:stomach PMID:10660140|REF_RGD_ID:152599189 11714007 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:1349944 D RGD:9068941 20220527 RGD PMID:32536826|REF_RGD_ID:152975628 11714007 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1349944 D RGD:9068941 20220512 RGD mRNA,protein:decreased expression:lung PMID:22245727|REF_RGD_ID:152176663 11714007 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:3907 lung squamous cell carcinoma severity ISO RGD:1349944 D RGD:9068941 20220512 RGD PMID:23906871|REF_RGD_ID:152176664 11714007 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1349944 D RGD:9068941 20220512 RGD DNA:missense mutations:cds:p.I1522M, p.Y2081D (human) PMID:19672627|REF_RGD_ID:152176665 11714007 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:3910 lung adenocarcinoma ISO RGD:1349944 D RGD:9068941 20220512 RGD mRNA,protein:decreased expression:lung PMID:22245727|REF_RGD_ID:152176663 11714007 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1349944 D RGD:9068941 20220527 RGD PMID:33536603|REF_RGD_ID:152975626 11714007 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1349944 D RGD:9068941 20220512 RGD DNA:missense mutations:cds:p.I1522M, p.Y2081D (human) PMID:19672627|REF_RGD_ID:152176665 11714007 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:4556 lung large cell carcinoma ISO RGD:1349944 D RGD:9068941 20220512 RGD mRNA,protein:decreased expression:lung PMID:22245727|REF_RGD_ID:152176663 11714007 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:5520 head and neck squamous cell carcinoma susceptibility ISO RGD:1349944 D RGD:9068941 20220512 RGD DNA:SNPs:cds:c.4566 A>G(I1522M)(rs2230600), c.6241 T>G (Y2081D)(rs989902)(human) PMID:19892796|REF_RGD_ID:152176661 11714007 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:5520 head and neck squamous cell carcinoma susceptibility ISO RGD:1349944 D RGD:9068941 20220512 RGD DNA:missense mutations:cds:p.I1522M, p.Y2081D (human) PMID:19672627|REF_RGD_ID:152176665 11714007 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:630 genetic disease ISO RGD:1349944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714007 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1349944 D RGD:9068941 20220526 RGD PMID:26801674|REF_RGD_ID:152176666 11714007 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1349944 D RGD:9068941 20220526 RGD DNA:SNP: :p.Y2081D(human) PMID:16489062|REF_RGD_ID:152599190 11714007 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1349944 D RGD:9068941 20220512 RGD associated with lung squamous cell carcinoma; protein:decreased expression:lymph node PMID:23906871|REF_RGD_ID:152176664 11714007 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1349944 D RGD:9068941 20220512 RGD DNA:missense mutations:cds:p.I1522M, p.Y2081D (human) PMID:19672627|REF_RGD_ID:152176665 11714059 HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 gene DOID:630 genetic disease ISO RGD:735555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714059 HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 gene DOID:9001553 Spinal Cord Compression ISO RGD:70970 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord, thoracic vertebrae (rat) PMID:20399821|REF_RGD_ID:2326108 11714059 HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11714059 HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70970 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:18452227|REF_RGD_ID:2302233 11714059 HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 gene DOID:9970 obesity ISO RGD:70970 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:1685984|REF_RGD_ID:2326155 11714082 MRPS22 mitochondrial ribosomal protein S22 gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1353996 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:28492532 11714082 MRPS22 mitochondrial ribosomal protein S22 gene DOID:0080499 ovarian dysgenesis 7 ISO RGD:1353996 D RGD:7240710 20190315 OMIM 11714082 MRPS22 mitochondrial ribosomal protein S22 gene DOID:0080499 ovarian dysgenesis 7 ISO RGD:1353996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 7 PMID:25741868|PMID:28492532|PMID:29566152|PMID:31042289 11714082 MRPS22 mitochondrial ribosomal protein S22 gene DOID:0111473 combined oxidative phosphorylation deficiency 5 ISO RGD:1353996 D RGD:7240710 20180130 OMIM 11714082 MRPS22 mitochondrial ribosomal protein S22 gene DOID:0111473 combined oxidative phosphorylation deficiency 5 ISO RGD:1353996 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypotonia with lactic acidemia and hyperammonemia PMID:17576681|PMID:17873122|PMID:18539099|PMID:21189481|PMID:25663021|PMID:25741868|PMID:28492532|PMID:28752220|PMID:29096039|PMID:31683770|PMID:9536098 11714082 MRPS22 mitochondrial ribosomal protein S22 gene DOID:0111474 combined oxidative phosphorylation deficiency 1 ISO RGD:1353996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 PMID:25741868 11714082 MRPS22 mitochondrial ribosomal protein S22 gene DOID:14450 46 XX gonadal dysgenesis ISO RGD:1353996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46 XX gonadal dysgenesis PMID:28492532|PMID:29566152 11714082 MRPS22 mitochondrial ribosomal protein S22 gene DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome ISO RGD:1353996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome 11714082 MRPS22 mitochondrial ribosomal protein S22 gene DOID:5426 primary ovarian insufficiency ISO RGD:1353996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:29566152|PMID:31042289 11714082 MRPS22 mitochondrial ribosomal protein S22 gene DOID:630 genetic disease ISO RGD:1353996 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11714082 MRPS22 mitochondrial ribosomal protein S22 gene DOID:9008540 46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs ISO RGD:1353996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46 XX gonadal dysgenesis PMID:28492532|PMID:29566152 11714082 MRPS22 mitochondrial ribosomal protein S22 gene DOID:9008939 Breast Neoplasms ISO RGD:1353996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 11714102 IGF2BP2 insulin like growth factor 2 mRNA binding protein 2 gene DOID:0111546 Currarino syndrome ISO RGD:1606569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11714102 IGF2BP2 insulin like growth factor 2 mRNA binding protein 2 gene DOID:630 genetic disease ISO RGD:1606569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714102 IGF2BP2 insulin like growth factor 2 mRNA binding protein 2 gene DOID:9007692 Insulin Resistance ISO RGD:1606569 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35226250 11714102 IGF2BP2 insulin like growth factor 2 mRNA binding protein 2 gene DOID:9007964 Arsenic Poisoning ISO RGD:1606569 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35226250 11714102 IGF2BP2 insulin like growth factor 2 mRNA binding protein 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1606569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to PMID:17463246|PMID:17463248|PMID:17463249 11714102 IGF2BP2 insulin like growth factor 2 mRNA binding protein 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1606569 D RGD:7240710 20230505 OMIM 11714136 TLCD1 TLC domain containing 1 gene DOID:630 genetic disease ISO RGD:1602658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714144 C6H6orf120 chromosome 6 C6orf120 homolog gene DOID:630 genetic disease ISO RGD:1348768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714157 PVRIG PVR related immunoglobulin domain containing gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11714157 PVRIG PVR related immunoglobulin domain containing gene DOID:630 genetic disease ISO RGD:1604301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714166 ARL1 ADP ribosylation factor like GTPase 1 gene DOID:630 genetic disease ISO RGD:732961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714176 LOC100991425 protein FRA10AC1 gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:1319845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:24206907|PMID:28492532 11714176 LOC100991425 protein FRA10AC1 gene DOID:630 genetic disease ISO RGD:1319845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714176 LOC100991425 protein FRA10AC1 gene DOID:9000628 Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities ISO RGD:1319845 D RGD:7240710 20221123 OMIM 11714176 LOC100991425 protein FRA10AC1 gene DOID:9000628 Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities ISO RGD:1319845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities PMID:25741868|PMID:34694367|PMID:35821753|PMID:35871492 11714210 SRRM1 serine and arginine repetitive matrix 1 gene DOID:11714 gestational diabetes ISO RGD:1322619 D RGD:9068941 20200609 RGD protein:increased glycation:placenta (human) PMID:24308201|REF_RGD_ID:11038724 11714210 SRRM1 serine and arginine repetitive matrix 1 gene DOID:630 genetic disease ISO RGD:1322619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714245 PSMC3IP PSMC3 interacting protein gene DOID:0080495 ovarian dysgenesis 3 ISO RGD:730859 D RGD:7240710 20180130 OMIM 11714245 PSMC3IP PSMC3 interacting protein gene DOID:0080495 ovarian dysgenesis 3 ISO RGD:730859 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 3 PMID:25741868|PMID:28492532|PMID:31042289 11714245 PSMC3IP PSMC3 interacting protein gene DOID:0111394 mucopolysaccharidosis type IIIB ISO RGD:730859 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B PMID:28492532 11714245 PSMC3IP PSMC3 interacting protein gene DOID:630 genetic disease ISO RGD:730859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11714245 PSMC3IP PSMC3 interacting protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:730859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11714257 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:736840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11714257 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:10283 prostate cancer ISO RGD:736840 D RGD:9068941 20200609 RGD PMID:18722266|REF_RGD_ID:2302865 11714257 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:62309 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus PMID:15941609|REF_RGD_ID:2302869 11714257 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:736840 D RGD:9068941 20200609 RGD PMID:7770119|REF_RGD_ID:2302735 11714257 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:736840 D RGD:9068941 20200609 RGD PMID:10210891|REF_RGD_ID:2302864 11714257 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:736840 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus PMID:11853019|REF_RGD_ID:2302863 11714257 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:1682 congenital heart disease ISO RGD:62309 D RGD:9068941 20200609 RGD associated with Down Syndrome;protein:decreased expression:heart PMID:15063784|REF_RGD_ID:2302870 11714257 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:2394 ovarian cancer ISO RGD:736840 D RGD:9068941 20200609 RGD PMID:18652693|REF_RGD_ID:2302866 11714257 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:305 carcinoma ISO RGD:736840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11714257 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:4450 renal cell carcinoma ISO RGD:736840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25329396 11714257 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:5844 myocardial infarction ISO RGD:62017 D RGD:9068941 20200609 RGD protein:decreased expression:right heart ventricle, ventricular septum PMID:17089028|REF_RGD_ID:2302667 11714257 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:6000 congestive heart failure ISO RGD:736840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 11714257 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:630 genetic disease ISO RGD:736840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714257 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:736840 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:16243812|REF_RGD_ID:2302868 11714257 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:736840 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms PMID:18191186|REF_RGD_ID:2302867 11714257 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11714257 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736840 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;protein:decreased expression: PMID:12813171|REF_RGD_ID:2302862 11714257 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11714257 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:736840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11714292 PLIN5 perilipin 5 gene DOID:13938 amenorrhea ISO RGD:2881444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11714292 PLIN5 perilipin 5 gene DOID:630 genetic disease ISO RGD:2881444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714310 TNFAIP8L2 TNF alpha induced protein 8 like 2 gene DOID:0080422 Dravet syndrome ISO RGD:1606238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 11714310 TNFAIP8L2 TNF alpha induced protein 8 like 2 gene DOID:0080600 COVID-19 ISO RGD:1606238 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11714310 TNFAIP8L2 TNF alpha induced protein 8 like 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11714310 TNFAIP8L2 TNF alpha induced protein 8 like 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11714310 TNFAIP8L2 TNF alpha induced protein 8 like 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606238 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11714310 TNFAIP8L2 TNF alpha induced protein 8 like 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1606238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11714310 TNFAIP8L2 TNF alpha induced protein 8 like 2 gene DOID:5812 MHC class II deficiency ISO RGD:1606238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11714310 TNFAIP8L2 TNF alpha induced protein 8 like 2 gene DOID:630 genetic disease ISO RGD:1606238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714310 TNFAIP8L2 TNF alpha induced protein 8 like 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11714320 MAPKAPK2 MAPK activated protein kinase 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11714320 MAPKAPK2 MAPK activated protein kinase 2 gene DOID:12849 autistic disorder ISO RGD:1606829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11714320 MAPKAPK2 MAPK activated protein kinase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1606829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11714320 MAPKAPK2 MAPK activated protein kinase 2 gene DOID:630 genetic disease ISO RGD:1606829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714320 MAPKAPK2 MAPK activated protein kinase 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606829 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11714320 MAPKAPK2 MAPK activated protein kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11714320 MAPKAPK2 MAPK activated protein kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11714333 RFPL2 ret finger protein like 2 gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1342537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 11714333 RFPL2 ret finger protein like 2 gene DOID:630 genetic disease ISO RGD:1342537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714333 RFPL2 ret finger protein like 2 gene DOID:9001601 Familial Focal Epilepsy, with Variable Foci 1 ISO RGD:1342537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 1 PMID:25741868 11714333 RFPL2 ret finger protein like 2 gene DOID:9001750 Glucose-Galactose Malabsorption ISO RGD:1342537 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital glucose-galactose malabsorption PMID:28492532 11714340 CSRP3 cysteine and glycine rich protein 3 gene DOID:0050700 cardiomyopathy ISO RGD:733068 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12507422|PMID:14567970|PMID:15781201|PMID:16352453|PMID:17084280|PMID:18505755|PMID:19035361|PMID:20044516|PMID:20474083|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26656175|PMID:27532257|PMID:28492532|PMID:28790153|PMID:30012424|PMID:30847666|PMID:31737537|PMID:31919335|PMID:32697969|PMID:33012304|PMID:33035702|PMID:33495597|PMID:34426522|PMID:9039266 11714340 CSRP3 cysteine and glycine rich protein 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:733068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:16199547|PMID:16352453|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532|PMID:31737537 11714340 CSRP3 cysteine and glycine rich protein 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:733068 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:16352453|PMID:18505755|PMID:23299917|PMID:24033266|PMID:25741868|PMID:28492532 11714340 CSRP3 cysteine and glycine rich protein 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:733068 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:16352453|PMID:17097056|PMID:18505755|PMID:23299917|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28790153|PMID:30012424|PMID:31737537|PMID:34426522 11714340 CSRP3 cysteine and glycine rich protein 3 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:733068 D RGD:7240710 20180130 OMIM 11714340 CSRP3 cysteine and glycine rich protein 3 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:733068 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:12507422|PMID:12642359|PMID:14567970|PMID:15781201|PMID:16199547|PMID:16352453|PMID:17084280|PMID:17097056|PMID:17576681|PMID:18250163|PMID:18505755|PMID:19035361|PMID:19412328|PMID:20044516|PMID:20087448|PMID:20474083|PMID:21425739|PMID:22337857|PMID:22429680|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25351510|PMID:25611685|PMID:25741868|PMID:26656175|PMID:27353086|PMID:27532257|PMID:27650965|PMID:28492532|PMID:28750076|PMID:28790153|PMID:28878402|PMID:29247119|PMID:29544605|PMID:30012424|PMID:30048712|PMID:30847666|PMID:31006259|PMID:31513939|PMID:31737537|PMID:31919335|PMID:31983221|PMID:32697969|PMID:32746448|PMID:32789579|PMID:32880476|PMID:33012304|PMID:33035702|PMID:33297573|PMID:33495597|PMID:34426522|PMID:34526680|PMID:8994428|PMID:9039266|PMID:9536098 11714340 CSRP3 cysteine and glycine rich protein 3 gene DOID:0110449 dilated cardiomyopathy 1M ISO RGD:733068 D RGD:7240710 20180130 OMIM 11714340 CSRP3 cysteine and glycine rich protein 3 gene DOID:0110449 dilated cardiomyopathy 1M ISO RGD:733068 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1M PMID:12507422|PMID:12642359|PMID:14567970|PMID:15781201|PMID:16199547|PMID:16352453|PMID:17084280|PMID:17097056|PMID:18250163|PMID:18505755|PMID:19035361|PMID:19412328|PMID:20044516|PMID:20474083|PMID:22337857|PMID:22429680|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25351510|PMID:25611685|PMID:25741868|PMID:26656175|PMID:27353086|PMID:27532257|PMID:27650965|PMID:28492532|PMID:28750076|PMID:28790153|PMID:28878402|PMID:29544605|PMID:30012424|PMID:30048712|PMID:30847666|PMID:31006259|PMID:31513939|PMID:31737537|PMID:32697969|PMID:32746448|PMID:32880476|PMID:33012304|PMID:33035702|PMID:33297573|PMID:33495597|PMID:34426522|PMID:34526680|PMID:8994428|PMID:9039266 11714340 CSRP3 cysteine and glycine rich protein 3 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:733068 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 11714340 CSRP3 cysteine and glycine rich protein 3 gene DOID:1059 intellectual disability ISO RGD:733068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11714340 CSRP3 cysteine and glycine rich protein 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:733068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:12507422|PMID:12642359|PMID:14567970|PMID:15781201|PMID:16352453|PMID:17084280|PMID:18250163|PMID:18505755|PMID:19035361|PMID:20044516|PMID:20474083|PMID:21425739|PMID:22337857|PMID:22429680|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24082139|PMID:25351510|PMID:25741868|PMID:26656175|PMID:27353086|PMID:27532257|PMID:28492532|PMID:28790153|PMID:30012424|PMID:30048712|PMID:31513939|PMID:8994428|PMID:9039266 11714340 CSRP3 cysteine and glycine rich protein 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:733068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12507422|PMID:14567970|PMID:15781201|PMID:16352453|PMID:17084280|PMID:18505755|PMID:20044516|PMID:20474083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26656175|PMID:28492532|PMID:9039266 11714340 CSRP3 cysteine and glycine rich protein 3 gene DOID:2843 long QT syndrome ISO RGD:733068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prolonged QT interval PMID:24033266|PMID:25741868|PMID:28492532|PMID:28790153 11714340 CSRP3 cysteine and glycine rich protein 3 gene DOID:303 substance-related disorder ISO RGD:733068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11714340 CSRP3 cysteine and glycine rich protein 3 gene DOID:3910 lung adenocarcinoma ISO RGD:733068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11714340 CSRP3 cysteine and glycine rich protein 3 gene DOID:6000 congestive heart failure ISO RGD:733069 D RGD:9068941 20220825 MouseDO 11714340 CSRP3 cysteine and glycine rich protein 3 gene DOID:630 genetic disease ISO RGD:733068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11714340 CSRP3 cysteine and glycine rich protein 3 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:71092 D RGD:9068941 20200609 RGD PMID:11113014|REF_RGD_ID:1598503 11714340 CSRP3 cysteine and glycine rich protein 3 gene DOID:9006205 Animal Disease Models ISO RGD:733068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11714340 CSRP3 cysteine and glycine rich protein 3 gene DOID:9007820 Sudden Death ISO RGD:733068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:12507422|PMID:14567970|PMID:15781201|PMID:16352453|PMID:17084280|PMID:18505755|PMID:20044516|PMID:20474083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26656175|PMID:28492532|PMID:9039266 11714354 VLDLR very low density lipoprotein receptor gene DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome ISO RGD:733926 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cerebellar disorder, nonprogressive, with mental retardation | ClinVar Annotator: match by term: Cerebellar hypoplasia, VLDLR associated | ClinVar Annotator: match by term: Dysequilibrium syndrome PMID:11913577|PMID:16080122|PMID:18043714|PMID:18326629|PMID:18364738|PMID:18414213|PMID:20301729|PMID:22700954|PMID:22973972|PMID:25741868|PMID:28492532 11714354 VLDLR very low density lipoprotein receptor gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:733926 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 11714354 VLDLR very low density lipoprotein receptor gene DOID:0070338 cerebellar hypoplasia ISO RGD:733926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:18414213|PMID:25741868|PMID:28492532 11714354 VLDLR very low density lipoprotein receptor gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:733926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29289645 11714354 VLDLR very low density lipoprotein receptor gene DOID:0110014 age related macular degeneration 1 ISO RGD:733927 D RGD:9068941 20220825 MouseDO OMIM:603075 11714354 VLDLR very low density lipoprotein receptor gene DOID:1059 intellectual disability ISO RGD:733926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25741868|PMID:28492532 11714354 VLDLR very low density lipoprotein receptor gene DOID:10652 Alzheimer's disease ISO RGD:733926 D RGD:9068941 20200609 RGD DNA:repeat PMID:7550352|REF_RGD_ID:737739 11714354 VLDLR very low density lipoprotein receptor gene DOID:10907 microcephaly ISO RGD:733926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11714354 VLDLR very low density lipoprotein receptor gene DOID:1168 familial hyperlipidemia ISO RGD:733927 D RGD:9068941 20200609 RGD PMID:10985956|REF_RGD_ID:1625570 11714354 VLDLR very low density lipoprotein receptor gene DOID:1184 nephrotic syndrome ISO RGD:3963 D RGD:9068941 20200609 RGD protein:decreased expression:heart, skeletal muscle (rat) PMID:9186864|REF_RGD_ID:2324668 11714354 VLDLR very low density lipoprotein receptor gene DOID:12849 autistic disorder ISO RGD:733926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15820235 11714354 VLDLR very low density lipoprotein receptor gene DOID:12849 autistic disorder ISO RGD:733926 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebellum, Brodmann area 9 (human) PMID:15820235|REF_RGD_ID:2317973 11714354 VLDLR very low density lipoprotein receptor gene DOID:1307 dementia ISO RGD:733926 D RGD:9068941 20200609 RGD DNA:repeat PMID:11342683|REF_RGD_ID:737740 11714354 VLDLR very low density lipoprotein receptor gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:3963 D RGD:9068941 20200609 RGD protein:decreased expression:adipose tissue, skeletal muscle (rat) PMID:11786096|REF_RGD_ID:2324671 11714354 VLDLR very low density lipoprotein receptor gene DOID:13938 amenorrhea ISO RGD:733926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11714354 VLDLR very low density lipoprotein receptor gene DOID:2349 arteriosclerosis ISO RGD:733927 D RGD:9068941 20200609 RGD PMID:10985956|REF_RGD_ID:1625570 11714354 VLDLR very low density lipoprotein receptor gene DOID:630 genetic disease ISO RGD:733926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27000652|PMID:28492532 11714354 VLDLR very low density lipoprotein receptor gene DOID:9000808 Hypercholesterolemia ISO RGD:733927 D RGD:9068941 20200609 RGD PMID:8636110|REF_RGD_ID:1625573 11714354 VLDLR very low density lipoprotein receptor gene DOID:9002943 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 ISO RGD:733926 D RGD:7240710 20190327 OMIM 11714354 VLDLR very low density lipoprotein receptor gene DOID:9002943 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 ISO RGD:733926 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1 | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 1 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | ClinVar Annotator: match by term: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 PMID:11913577|PMID:16080122|PMID:18043714|PMID:18326629|PMID:18364738|PMID:18414213|PMID:20301729|PMID:22700954|PMID:22973972|PMID:25741868|PMID:28492532 11714354 VLDLR very low density lipoprotein receptor gene DOID:9003936 Cardiomegaly ISO RGD:3963 D RGD:9068941 20200609 RGD associated with Hypertension; mRNA:decreased expression:heart ventricle PMID:8603509|REF_RGD_ID:1625579 11714354 VLDLR very low density lipoprotein receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3963 D RGD:9068941 20200609 RGD protein:decreased expression:heart, skeletal muscle PMID:15878964|REF_RGD_ID:1625575 11714354 VLDLR very low density lipoprotein receptor gene DOID:9006534 Nervous System Malformations ISO RGD:733926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11714354 VLDLR very low density lipoprotein receptor gene DOID:9006599 Hypertriglyceridemia ISO RGD:3963 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic;mRNA, protein:decreased expression:adipose tissue, skeletal muscle PMID:9507207|REF_RGD_ID:1625577 11714354 VLDLR very low density lipoprotein receptor gene DOID:9970 obesity ISO RGD:733926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20975297 11714354 VLDLR very low density lipoprotein receptor gene DOID:9970 obesity susceptibility ISO RGD:733927 D RGD:9068941 20200609 RGD PMID:11557677|REF_RGD_ID:1625568 11714385 EIF4H eukaryotic translation initiation factor 4H gene DOID:0060041 autism spectrum disorder ISO RGD:1347903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 11714385 EIF4H eukaryotic translation initiation factor 4H gene DOID:10923 sickle cell anemia ISO RGD:1347903 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 11714385 EIF4H eukaryotic translation initiation factor 4H gene DOID:12849 autistic disorder ISO RGD:1347903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11714385 EIF4H eukaryotic translation initiation factor 4H gene DOID:1928 Williams-Beuren syndrome ISO RGD:1347903 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 11714385 EIF4H eukaryotic translation initiation factor 4H gene DOID:1929 supravalvular aortic stenosis ISO RGD:1347903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis PMID:10627943|PMID:11175284|PMID:25205790|PMID:28277377|PMID:28492532|PMID:7557968|PMID:7611295|PMID:7726172|PMID:8968740 11714385 EIF4H eukaryotic translation initiation factor 4H gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11714385 EIF4H eukaryotic translation initiation factor 4H gene DOID:5419 schizophrenia ISO RGD:1347903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11714385 EIF4H eukaryotic translation initiation factor 4H gene DOID:630 genetic disease ISO RGD:1347903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714385 EIF4H eukaryotic translation initiation factor 4H gene DOID:8445 intestinal volvulus ISO RGD:1347903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11714385 EIF4H eukaryotic translation initiation factor 4H gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11714385 EIF4H eukaryotic translation initiation factor 4H gene DOID:9008419 Volvulus Of Midgut ISO RGD:1347903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11714394 FOXI1 forkhead box I1 gene DOID:0060744 Pendred syndrome ISO RGD:1316609 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome PMID:17503324|PMID:25741868|PMID:28492532|PMID:30311386 11714394 FOXI1 forkhead box I1 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:1316609 D RGD:7240710 20180130 OMIM 11714394 FOXI1 forkhead box I1 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:1316609 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 PMID:17503324|PMID:20621367|PMID:20809947|PMID:24860705|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386 11714394 FOXI1 forkhead box I1 gene DOID:0111951 immunodeficiency 40 ISO RGD:1316609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:26083206|PMID:28492532 11714394 FOXI1 forkhead box I1 gene DOID:630 genetic disease ISO RGD:1316609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11714394 FOXI1 forkhead box I1 gene DOID:9004538 Hearing Loss ISO RGD:1316609 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed PMID:25741868|PMID:30311386 11714394 FOXI1 forkhead box I1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1316609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 11714400 PAF1 PAF1 homolog, Paf1/RNA polymerase II complex component gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1607027 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11714400 PAF1 PAF1 homolog, Paf1/RNA polymerase II complex component gene DOID:630 genetic disease ISO RGD:1607027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714400 PAF1 PAF1 homolog, Paf1/RNA polymerase II complex component gene DOID:9352 type 2 diabetes mellitus ISO RGD:1607027 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11714418 BTN2A1 butyrophilin subfamily 2 member A1 gene DOID:630 genetic disease ISO RGD:1353022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714436 TPRG1L tumor protein p63 regulated 1 like gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1601827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11714436 TPRG1L tumor protein p63 regulated 1 like gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1601827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11714436 TPRG1L tumor protein p63 regulated 1 like gene DOID:0110994 Joubert syndrome 25 ISO RGD:1601827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11714436 TPRG1L tumor protein p63 regulated 1 like gene DOID:0111934 immunodeficiency 38 ISO RGD:1601827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11714436 TPRG1L tumor protein p63 regulated 1 like gene DOID:0111935 immunodeficiency 16 ISO RGD:1601827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11714436 TPRG1L tumor protein p63 regulated 1 like gene DOID:630 genetic disease ISO RGD:1601827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714436 TPRG1L tumor protein p63 regulated 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11714436 TPRG1L tumor protein p63 regulated 1 like gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1601827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11714443 RNF180 ring finger protein 180 gene DOID:630 genetic disease ISO RGD:1347772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714443 RNF180 ring finger protein 180 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11714443 RNF180 ring finger protein 180 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1347772 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34998818 11714456 LCE3C late cornified envelope 3C gene DOID:0111940 immunodeficiency 42 ISO RGD:1343921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11714456 LCE3C late cornified envelope 3C gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1343921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11714456 LCE3C late cornified envelope 3C gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1343921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11714456 LCE3C late cornified envelope 3C gene DOID:1540 parathyroid carcinoma ISO RGD:1343921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11714456 LCE3C late cornified envelope 3C gene DOID:5812 MHC class II deficiency ISO RGD:1343921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11714456 LCE3C late cornified envelope 3C gene DOID:630 genetic disease ISO RGD:1343921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714456 LCE3C late cornified envelope 3C gene DOID:8893 psoriasis ISO RGD:1343921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19169253 11714456 LCE3C late cornified envelope 3C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11714462 MKNK2 MAPK interacting serine/threonine kinase 2 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1313930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 11714462 MKNK2 MAPK interacting serine/threonine kinase 2 gene DOID:5339 cyclic hematopoiesis ISO RGD:1313930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11714462 MKNK2 MAPK interacting serine/threonine kinase 2 gene DOID:630 genetic disease ISO RGD:1313930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714462 MKNK2 MAPK interacting serine/threonine kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11714486 SLC49A4 solute carrier family 49 member 4 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1322124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 11714486 SLC49A4 solute carrier family 49 member 4 gene DOID:2394 ovarian cancer ISO RGD:1322124 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 11714486 SLC49A4 solute carrier family 49 member 4 gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:1322124 D RGD:9068941 20200609 RGD DNA:translocation:intron:t(2;3)(q35;q21) PMID:11912179|REF_RGD_ID:1601072 11714486 SLC49A4 solute carrier family 49 member 4 gene DOID:630 genetic disease ISO RGD:1322124 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714486 SLC49A4 solute carrier family 49 member 4 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1322124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 11714486 SLC49A4 solute carrier family 49 member 4 gene DOID:9270 alkaptonuria ISO RGD:1322124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11714499 FAM131A family with sequence similarity 131 member A gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1606725 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11714499 FAM131A family with sequence similarity 131 member A gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1606725 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11714499 FAM131A family with sequence similarity 131 member A gene DOID:0111546 Currarino syndrome ISO RGD:1606725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11714499 FAM131A family with sequence similarity 131 member A gene DOID:630 genetic disease ISO RGD:1606725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714530 INSL4 insulin like 4 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1354230 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 11714530 INSL4 insulin like 4 gene DOID:630 genetic disease ISO RGD:1354230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714540 SPART spartin gene DOID:0050753 cerebellar ataxia ISO RGD:1314206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25558065|PMID:25741868 11714540 SPART spartin gene DOID:0050886 Troyer syndrome ISO RGD:1314206 D RGD:7240710 20180130 OMIM 11714540 SPART spartin gene DOID:0050886 Troyer syndrome ISO RGD:1314206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Troyer syndrome PMID:12134148|PMID:18413476|PMID:20437587|PMID:20504295|PMID:23699601|PMID:25558065|PMID:25741868|PMID:26003402|PMID:26467025|PMID:27112432|PMID:28492532|PMID:28679690 11714540 SPART spartin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1314206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:23699601|PMID:25741868|PMID:26467025|PMID:28492532 11714540 SPART spartin gene DOID:4914 esophagus adenocarcinoma ISO RGD:1314206 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23525077 11714540 SPART spartin gene DOID:630 genetic disease ISO RGD:1314206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18413476|PMID:20437587|PMID:20504295|PMID:25741868|PMID:26003402|PMID:27112432|PMID:28492532 11714573 RAB7A RAB7A, member RAS oncogene family gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1351789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 11714573 RAB7A RAB7A, member RAS oncogene family gene DOID:0110159 Charcot-Marie-Tooth disease type 2B ISO RGD:1351789 D RGD:7240710 20180130 OMIM 11714573 RAB7A RAB7A, member RAS oncogene family gene DOID:0110159 Charcot-Marie-Tooth disease type 2B ISO RGD:1351789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B PMID:10636124|PMID:11094113|PMID:12545426|PMID:15455439|PMID:17060578|PMID:17576681|PMID:18272684|PMID:18501189|PMID:19531583|PMID:19651702|PMID:20028791|PMID:21151572|PMID:22971099|PMID:23179371|PMID:23188822|PMID:23458836|PMID:24344282|PMID:24498653|PMID:24521780|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26791407|PMID:27462242|PMID:28492532|PMID:29130394|PMID:32326241|PMID:33846303|PMID:9536098 11714573 RAB7A RAB7A, member RAS oncogene family gene DOID:0111947 immunodeficiency 21 ISO RGD:1351789 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:22147895|PMID:23223431|PMID:28492532 11714573 RAB7A RAB7A, member RAS oncogene family gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1351789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10636124|PMID:11094113|PMID:12545426|PMID:15455439|PMID:17060578|PMID:18272684|PMID:19531583|PMID:19651702|PMID:20028791|PMID:21151572|PMID:22971099|PMID:23179371|PMID:23188822|PMID:24498653|PMID:24521780|PMID:25741868|PMID:26467025|PMID:26791407|PMID:27462242|PMID:28492532|PMID:29130394 11714573 RAB7A RAB7A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1351789 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 11714573 RAB7A RAB7A, member RAS oncogene family gene DOID:9007102 Myocardial Ischemia ISO RGD:1351789 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11714573 RAB7A RAB7A, member RAS oncogene family gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1351789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:23223431|PMID:25741868|PMID:26710799|PMID:28492532|PMID:31710708 11714573 RAB7A RAB7A, member RAS oncogene family gene DOID:9240 erythromelalgia ISO RGD:1351789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sodium channelopathy-related small fiber neuropathy 11714573 RAB7A RAB7A, member RAS oncogene family gene DOID:9270 alkaptonuria ISO RGD:1351789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11714582 SGK1 serum/glucocorticoid regulated kinase 1 gene DOID:0080600 COVID-19 ISO RGD:731028 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 11714582 SGK1 serum/glucocorticoid regulated kinase 1 gene DOID:10763 hypertension no_association ISO RGD:731028 D RGD:9068941 20200609 RGD DNA:SNP:exon, intron:no association with SNPs in codon 240 in exon 8, codon 398 in exon 12 or intron 6 PMID:15304560|REF_RGD_ID:1580969 11714582 SGK1 serum/glucocorticoid regulated kinase 1 gene DOID:10763 hypertension susceptibility ISO RGD:731028 D RGD:9068941 20200609 RGD DNA:snps:exon, intron: (human) PMID:16221215|REF_RGD_ID:1580968 11714582 SGK1 serum/glucocorticoid regulated kinase 1 gene DOID:224 transient cerebral ischemia ISO RGD:3668 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus, pyramidal cell PMID:15046873|REF_RGD_ID:1580967 11714582 SGK1 serum/glucocorticoid regulated kinase 1 gene DOID:2999 granulosa cell tumor ISO RGD:731028 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.01) PMID:11994539|REF_RGD_ID:2289157 11714582 SGK1 serum/glucocorticoid regulated kinase 1 gene DOID:305 carcinoma ISO RGD:731028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11714582 SGK1 serum/glucocorticoid regulated kinase 1 gene DOID:3114 serous cystadenocarcinoma ISO RGD:731028 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.01) PMID:11994539|REF_RGD_ID:2289157 11714582 SGK1 serum/glucocorticoid regulated kinase 1 gene DOID:3603 mucinous cystadenocarcinoma ISO RGD:731028 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.01) PMID:11994539|REF_RGD_ID:2289157 11714582 SGK1 serum/glucocorticoid regulated kinase 1 gene DOID:4676 uremia ISO RGD:731028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18768591 11714582 SGK1 serum/glucocorticoid regulated kinase 1 gene DOID:630 genetic disease ISO RGD:731028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714582 SGK1 serum/glucocorticoid regulated kinase 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11714582 SGK1 serum/glucocorticoid regulated kinase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11714582 SGK1 serum/glucocorticoid regulated kinase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:731028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11714582 SGK1 serum/glucocorticoid regulated kinase 1 gene DOID:9538 multiple myeloma ISO RGD:731028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11714582 SGK1 serum/glucocorticoid regulated kinase 1 gene DOID:9743 diabetic neuropathy ISO RGD:731028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16696316 11714611 SIRT1 sirtuin 1 gene DOID:0060180 colitis ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19940103|PMID:24548422|PMID:24782617 11714611 SIRT1 sirtuin 1 gene DOID:0060224 atrial fibrillation ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 11714611 SIRT1 sirtuin 1 gene DOID:0060903 thrombosis ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25339356 11714611 SIRT1 sirtuin 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26026874 11714611 SIRT1 sirtuin 1 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:1318374 D RGD:9068941 20200609 RGD associated with Obesity, Morbid;mRNA:decreased expression:visceral abdominal adipose tissue PMID:20033348|REF_RGD_ID:9586021 11714611 SIRT1 sirtuin 1 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:1318374 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:22902550|REF_RGD_ID:9585746 11714611 SIRT1 sirtuin 1 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:17498258|REF_RGD_ID:9585663 11714611 SIRT1 sirtuin 1 gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 11714611 SIRT1 sirtuin 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1318374 D RGD:9068941 20200609 RGD PMID:23038275|REF_RGD_ID:9585760 11714611 SIRT1 sirtuin 1 gene DOID:10603 glucose intolerance ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21321189 11714611 SIRT1 sirtuin 1 gene DOID:10652 Alzheimer's disease ISO RGD:1318375 D RGD:9068941 20200609 RGD protein:increased expression:forebrain (mouse) PMID:17581637|REF_RGD_ID:2290573 11714611 SIRT1 sirtuin 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:1318375 D RGD:9068941 20200609 RGD PMID:16751189|REF_RGD_ID:10047116 11714611 SIRT1 sirtuin 1 gene DOID:114 heart disease ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23217256 11714611 SIRT1 sirtuin 1 gene DOID:11476 osteoporosis treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:22555620|PMID:25377437|REF_RGD_ID:10047129|REF_RGD_ID:10053568 11714611 SIRT1 sirtuin 1 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:1318375 D RGD:9068941 20220825 MouseDO OMIM:125800 | OMIM:304800 11714611 SIRT1 sirtuin 1 gene DOID:12858 Huntington's disease ISO RGD:1318374 D RGD:9068941 20200609 RGD human gene in a mouse model;DNA:repeat:exon:p.18(Q)82 (human) PMID:9949199|REF_RGD_ID:10395240 11714611 SIRT1 sirtuin 1 gene DOID:12858 Huntington's disease ISO RGD:1318374 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex PMID:18538940|REF_RGD_ID:9586004 11714611 SIRT1 sirtuin 1 gene DOID:12858 Huntington's disease ISO RGD:1318375 D RGD:9068941 20200609 RGD PMID:22179316|REF_RGD_ID:9585998 11714611 SIRT1 sirtuin 1 gene DOID:1289 neurodegenerative disease ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17581637|PMID:17652729 11714611 SIRT1 sirtuin 1 gene DOID:1826 epilepsy ISO RGD:1308542 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:23644113|REF_RGD_ID:9585747 11714611 SIRT1 sirtuin 1 gene DOID:1826 epilepsy ISO RGD:1318374 D RGD:9068941 20200609 RGD protein:increased expression:temporal lobe PMID:23644113|REF_RGD_ID:9585747 11714611 SIRT1 sirtuin 1 gene DOID:1875 impotence treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:24467772|REF_RGD_ID:9495931 11714611 SIRT1 sirtuin 1 gene DOID:1936 atherosclerosis ISO RGD:1308542 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;mRNA:decreased expression:abdominal aorta PMID:21810449|REF_RGD_ID:9585743 11714611 SIRT1 sirtuin 1 gene DOID:1936 atherosclerosis ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20068143 11714611 SIRT1 sirtuin 1 gene DOID:3021 acute kidney failure ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21416250 11714611 SIRT1 sirtuin 1 gene DOID:3021 acute kidney failure severity ISO RGD:1308542 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:21416250|REF_RGD_ID:10047111 11714611 SIRT1 sirtuin 1 gene DOID:3213 demyelinating disease ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23547115 11714611 SIRT1 sirtuin 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1318375 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (mouse) PMID:17581637|REF_RGD_ID:2290573 11714611 SIRT1 sirtuin 1 gene DOID:3347 osteosarcoma ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793039 11714611 SIRT1 sirtuin 1 gene DOID:3454 brain infarction ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22878646 11714611 SIRT1 sirtuin 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:1318375 D RGD:9068941 20200609 RGD PMID:23600725|REF_RGD_ID:9585664 11714611 SIRT1 sirtuin 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:23600725|REF_RGD_ID:9585664 11714611 SIRT1 sirtuin 1 gene DOID:417 autoimmune disease ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23993977 11714611 SIRT1 sirtuin 1 gene DOID:418 systemic scleroderma ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25707573 11714611 SIRT1 sirtuin 1 gene DOID:4448 macular degeneration ISO RGD:1318374 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina PMID:21890195|REF_RGD_ID:9585773 11714611 SIRT1 sirtuin 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19720090 11714611 SIRT1 sirtuin 1 gene DOID:552 pneumonia ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24633890 11714611 SIRT1 sirtuin 1 gene DOID:5679 retinal disease ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23217256 11714611 SIRT1 sirtuin 1 gene DOID:5844 myocardial infarction ISO RGD:1308542 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:20089851|REF_RGD_ID:2316169 11714611 SIRT1 sirtuin 1 gene DOID:6000 congestive heart failure ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24535859 11714611 SIRT1 sirtuin 1 gene DOID:630 genetic disease ISO RGD:1318374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714611 SIRT1 sirtuin 1 gene DOID:8947 diabetic retinopathy ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24894401 11714611 SIRT1 sirtuin 1 gene DOID:9000040 Hypertrophy ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23297412 11714611 SIRT1 sirtuin 1 gene DOID:9000310 Lung Injury ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24633890 11714611 SIRT1 sirtuin 1 gene DOID:9000784 Fibrosis ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20651248 11714611 SIRT1 sirtuin 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793039 11714611 SIRT1 sirtuin 1 gene DOID:9000998 Brain Injuries treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:17970622|REF_RGD_ID:9497541 11714611 SIRT1 sirtuin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26435214 11714611 SIRT1 sirtuin 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:1308542 D RGD:9068941 20200609 RGD protein:decreased expression:heart left ventricle PMID:21554952|REF_RGD_ID:9585770 11714611 SIRT1 sirtuin 1 gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:22113495|REF_RGD_ID:7240568 11714611 SIRT1 sirtuin 1 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24894820 11714611 SIRT1 sirtuin 1 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:24557422|REF_RGD_ID:9497542 11714611 SIRT1 sirtuin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21062352 11714611 SIRT1 sirtuin 1 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:17322642|REF_RGD_ID:9586020 11714611 SIRT1 sirtuin 1 gene DOID:9002498 Wallerian Degeneration ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24252177 11714611 SIRT1 sirtuin 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23547115 11714611 SIRT1 sirtuin 1 gene DOID:9002955 Nerve Degeneration ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17581637 11714611 SIRT1 sirtuin 1 gene DOID:9002981 Genomic Instability ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23217256 11714611 SIRT1 sirtuin 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:25281201|REF_RGD_ID:13514043 11714611 SIRT1 sirtuin 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1308542 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:myocardium PMID:18192848|REF_RGD_ID:2293330 11714611 SIRT1 sirtuin 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1308542 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA, protein:increased expression:heart PMID:19142216|REF_RGD_ID:9495934 11714611 SIRT1 sirtuin 1 gene DOID:9005246 Paralysis ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23547115 11714611 SIRT1 sirtuin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23090186|PMID:23792339 11714611 SIRT1 sirtuin 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:22179968|REF_RGD_ID:9586012 11714611 SIRT1 sirtuin 1 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:22324445|REF_RGD_ID:9495930 11714611 SIRT1 sirtuin 1 gene DOID:9006302 Binge Drinking ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:24416161|REF_RGD_ID:9495933 11714611 SIRT1 sirtuin 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:1308542 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus (rat) PMID:25356430|REF_RGD_ID:10053569 11714611 SIRT1 sirtuin 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20068143 11714611 SIRT1 sirtuin 1 gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:21514307|REF_RGD_ID:9585758 11714611 SIRT1 sirtuin 1 gene DOID:9006778 Carotid Atherosclerosis ISO RGD:1318374 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:carotid artery segment PMID:23224247|REF_RGD_ID:9495924 11714611 SIRT1 sirtuin 1 gene DOID:9007502 Brain Neoplasms ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22523472 11714611 SIRT1 sirtuin 1 gene DOID:9007692 Insulin Resistance ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20068143|PMID:21321189|PMID:24442997|PMID:25849131|PMID:26026874 11714611 SIRT1 sirtuin 1 gene DOID:9007692 Insulin Resistance treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD associated with Obesity PMID:19996381|REF_RGD_ID:9585759 11714611 SIRT1 sirtuin 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21060073 11714611 SIRT1 sirtuin 1 gene DOID:9008691 Liver Injury treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD associated with Sepsis PMID:25004063|REF_RGD_ID:9586016 11714611 SIRT1 sirtuin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19839049 11714611 SIRT1 sirtuin 1 gene DOID:9351 diabetes mellitus ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24894401 11714611 SIRT1 sirtuin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23834033 11714611 SIRT1 sirtuin 1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:19549853|REF_RGD_ID:9585997 11714611 SIRT1 sirtuin 1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:1318375 D RGD:9068941 20200609 RGD associated with Obesity PMID:18046409|REF_RGD_ID:9585769 11714611 SIRT1 sirtuin 1 gene DOID:9452 fatty liver disease ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21321189|PMID:23834033|PMID:24184811|PMID:24210820|PMID:24442997 11714611 SIRT1 sirtuin 1 gene DOID:9452 fatty liver disease ISO RGD:1318375 D RGD:9068941 20200609 RGD associated with Obesity PMID:21540183|REF_RGD_ID:9585751 11714611 SIRT1 sirtuin 1 gene DOID:9452 fatty liver disease ISO RGD:1318375 D RGD:9068941 20220825 MouseDO OMIM:228100 11714611 SIRT1 sirtuin 1 gene DOID:9669 senile cataract ISO RGD:1318374 D RGD:9068941 20200609 RGD PMID:21501079|REF_RGD_ID:10045354 11714611 SIRT1 sirtuin 1 gene DOID:9970 obesity ISO RGD:1308542 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:24135502|REF_RGD_ID:9586064 11714611 SIRT1 sirtuin 1 gene DOID:9970 obesity ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24184811 11714611 SIRT1 sirtuin 1 gene DOID:9970 obesity treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:24773342|REF_RGD_ID:9585762 11714624 HJURP Holliday junction recognition protein gene DOID:0060476 Perlman syndrome ISO RGD:2292108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11714624 HJURP Holliday junction recognition protein gene DOID:0080600 COVID-19 ISO RGD:2292108 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11714624 HJURP Holliday junction recognition protein gene DOID:0110991 Joubert syndrome 22 ISO RGD:2292108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11714624 HJURP Holliday junction recognition protein gene DOID:630 genetic disease ISO RGD:2292108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714624 HJURP Holliday junction recognition protein gene DOID:684 hepatocellular carcinoma ISO RGD:2292108 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11714641 DLG4 discs large MAGUK scaffold protein 4 gene DOID:0060041 autism spectrum disorder ISO RGD:68630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11714641 DLG4 discs large MAGUK scaffold protein 4 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:68630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:16199547|PMID:23169530|PMID:23480858|PMID:25741868|PMID:28492532|PMID:32581362|PMID:9973285 11714641 DLG4 discs large MAGUK scaffold protein 4 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:68630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 11714641 DLG4 discs large MAGUK scaffold protein 4 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:68630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 11714641 DLG4 discs large MAGUK scaffold protein 4 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:68630 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11714641 DLG4 discs large MAGUK scaffold protein 4 gene DOID:0112044 non-syndromic X-linked intellectual disability 98 ISO RGD:68630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98 PMID:25741868 11714641 DLG4 discs large MAGUK scaffold protein 4 gene DOID:1059 intellectual disability ISO RGD:68630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11714641 DLG4 discs large MAGUK scaffold protein 4 gene DOID:10652 Alzheimer's disease ISO RGD:68630 D RGD:9068941 20200609 RGD PMID:24156266|REF_RGD_ID:13792688 11714641 DLG4 discs large MAGUK scaffold protein 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:68630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11714641 DLG4 discs large MAGUK scaffold protein 4 gene DOID:12177 common variable immunodeficiency ISO RGD:68630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11714641 DLG4 discs large MAGUK scaffold protein 4 gene DOID:12858 Huntington's disease ISO RGD:68631 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex, synapse PMID:25568121|REF_RGD_ID:13432154 11714641 DLG4 discs large MAGUK scaffold protein 4 gene DOID:12858 Huntington's disease ISO RGD:68631 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex PMID:24728190|REF_RGD_ID:13432155 11714641 DLG4 discs large MAGUK scaffold protein 4 gene DOID:14330 Parkinson's disease ISO RGD:68424 D RGD:9068941 20200609 RGD protein:altered localization, decreased expression:striatum:redistribution from synapse to vesicles PMID:15703272|REF_RGD_ID:2306834 11714641 DLG4 discs large MAGUK scaffold protein 4 gene DOID:1928 Williams-Beuren syndrome ISO RGD:68630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20952458 11714641 DLG4 discs large MAGUK scaffold protein 4 gene DOID:1928 Williams-Beuren syndrome ISO RGD:68631 D RGD:9068941 20220825 MouseDO OMIM:194050 11714641 DLG4 discs large MAGUK scaffold protein 4 gene DOID:2729 dyskeratosis congenita ISO RGD:68630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11714641 DLG4 discs large MAGUK scaffold protein 4 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:68630 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11714641 DLG4 discs large MAGUK scaffold protein 4 gene DOID:3328 temporal lobe epilepsy ISO RGD:68424 D RGD:9068941 20200609 RGD protein:decreased expression:forebrain, postsynaptic density PMID:11226670|REF_RGD_ID:5147998 11714641 DLG4 discs large MAGUK scaffold protein 4 gene DOID:630 genetic disease ISO RGD:68630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30504930|PMID:33597769 11714641 DLG4 discs large MAGUK scaffold protein 4 gene DOID:9000884 Rhabdomyolysis ISO RGD:68630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:32581362 11714641 DLG4 discs large MAGUK scaffold protein 4 gene DOID:9002211 Hyperalgesia ISO RGD:68424 D RGD:9068941 20200609 RGD associated with Diabetic neuropathies; PMID:20531396|REF_RGD_ID:7257680 11714641 DLG4 discs large MAGUK scaffold protein 4 gene DOID:9003710 Autosomal Dominant Intellectual Developmental Disorder 62 ISO RGD:68630 D RGD:7240710 20200318 OMIM 11714641 DLG4 discs large MAGUK scaffold protein 4 gene DOID:9003710 Autosomal Dominant Intellectual Developmental Disorder 62 ISO RGD:68630 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62 | ClinVar Annotator: match by term: Intellectual developmental disorder 62 PMID:16199547|PMID:25741868|PMID:26350515|PMID:27479843|PMID:27618451|PMID:28492532|PMID:29460436|PMID:33597769 11714641 DLG4 discs large MAGUK scaffold protein 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 11714641 DLG4 discs large MAGUK scaffold protein 4 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:68630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:25741868|PMID:26350515|PMID:27479843|PMID:33597769 11714641 DLG4 discs large MAGUK scaffold protein 4 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:68630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:29460436|PMID:33597769 11714641 DLG4 discs large MAGUK scaffold protein 4 gene DOID:9008104 Cancer Pain ameliorates ISO RGD:68424 D RGD:9068941 20230401 RGD PMID:26738857|REF_RGD_ID:243048441 11714687 ZNF638 zinc finger protein 638 gene DOID:543 dystonia ISO RGD:1349975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11714687 ZNF638 zinc finger protein 638 gene DOID:630 genetic disease ISO RGD:1349975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714687 ZNF638 zinc finger protein 638 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1349975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11714742 CIB2 calcium and integrin binding family member 2 gene DOID:0050439 Usher syndrome ISO RGD:1318655 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:24033266|PMID:25741868|PMID:26173970|PMID:26214305|PMID:26226137|PMID:26426422|PMID:26445815|PMID:26992781|PMID:28492532|PMID:28663585|PMID:29112224|PMID:30055715|PMID:30311386|PMID:34837038 11714742 CIB2 calcium and integrin binding family member 2 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1318655 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:23023331|PMID:25741868|PMID:30303587 11714742 CIB2 calcium and integrin binding family member 2 gene DOID:0110505 autosomal recessive nonsyndromic deafness 48 ISO RGD:1318655 D RGD:7240710 20180130 OMIM 11714742 CIB2 calcium and integrin binding family member 2 gene DOID:0110505 autosomal recessive nonsyndromic deafness 48 ISO RGD:1318655 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 48 PMID:23023331|PMID:24033266|PMID:25741868|PMID:26173970|PMID:26214305|PMID:26226137|PMID:26416264|PMID:26426422|PMID:26445815|PMID:28492532|PMID:28663585|PMID:29112224|PMID:30303587|PMID:30311386|PMID:34837038 11714742 CIB2 calcium and integrin binding family member 2 gene DOID:0110826 Usher syndrome type 1 ISO RGD:1318655 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:18505454|PMID:20301442|PMID:23023331 11714742 CIB2 calcium and integrin binding family member 2 gene DOID:0110836 Usher syndrome type 1J ISO RGD:1318655 D RGD:7240710 20180130 OMIM 11714742 CIB2 calcium and integrin binding family member 2 gene DOID:0110836 Usher syndrome type 1J ISO RGD:1318655 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1J PMID:18505454|PMID:20301442|PMID:23023331|PMID:24033266|PMID:25741868|PMID:26173970|PMID:26226137|PMID:26445815|PMID:28492532|PMID:29112224|PMID:30303587 11714742 CIB2 calcium and integrin binding family member 2 gene DOID:2717 Bloom syndrome ISO RGD:1318655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11714742 CIB2 calcium and integrin binding family member 2 gene DOID:630 genetic disease ISO RGD:1318655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11714742 CIB2 calcium and integrin binding family member 2 gene DOID:9004538 Hearing Loss ISO RGD:1318655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:26173970|PMID:28492532|PMID:28663585|PMID:29112224|PMID:30311386 11714742 CIB2 calcium and integrin binding family member 2 gene DOID:9256 colorectal cancer ISO RGD:1318655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11714754 NOX1 NADPH oxidase 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:732308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very early onset inflammatory bowel disease PMID:28492532|PMID:30709874 11714754 NOX1 NADPH oxidase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11714754 NOX1 NADPH oxidase 1 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:732308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:21053371|PMID:23712037|PMID:27179713|PMID:28492532|PMID:29377098 11714754 NOX1 NADPH oxidase 1 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:732308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 11714754 NOX1 NADPH oxidase 1 gene DOID:12849 autistic disorder ISO RGD:732308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11714754 NOX1 NADPH oxidase 1 gene DOID:6000 congestive heart failure ISO RGD:732308 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20304815 11714754 NOX1 NADPH oxidase 1 gene DOID:630 genetic disease ISO RGD:732308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714754 NOX1 NADPH oxidase 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:732308 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20832062 11714754 NOX1 NADPH oxidase 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:732308 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20715105 11714754 NOX1 NADPH oxidase 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:732308 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:peripheral blood mononuclear cell (human) PMID:16380495|REF_RGD_ID:1580973 11714754 NOX1 NADPH oxidase 1 gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:732308 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 11714774 ACTMAP actin maturation protease gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1604490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11714774 ACTMAP actin maturation protease gene DOID:1342 congenital hypoplastic anemia ISO RGD:1604490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11714774 ACTMAP actin maturation protease gene DOID:2340 craniosynostosis ISO RGD:1604490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11714774 ACTMAP actin maturation protease gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1604490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11714774 ACTMAP actin maturation protease gene DOID:9269 maple syrup urine disease ISO RGD:1604490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11714805 DCAF4L1 DDB1 and CUL4 associated factor 4 like 1 gene DOID:630 genetic disease ISO RGD:1604959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714810 ADAR adenosine deaminase RNA specific gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11714810 ADAR adenosine deaminase RNA specific gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:736989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome PMID:19060901|PMID:20301648|PMID:22129056|PMID:23001123|PMID:24033266|PMID:24262145|PMID:25456137|PMID:25604658|PMID:25741868|PMID:26629815|PMID:28139822|PMID:28492532|PMID:28561207|PMID:29221912|PMID:29603717|PMID:31772029|PMID:33289110|PMID:33307271|PMID:33723056|PMID:34343497|PMID:9889202 11714810 ADAR adenosine deaminase RNA specific gene DOID:0050716 methylmalonic aciduria and homocystinuria type cblD ISO RGD:736989 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD PMID:25741868|PMID:28492532 11714810 ADAR adenosine deaminase RNA specific gene DOID:0060257 dyschromatosis symmetrica hereditaria ISO RGD:736989 D RGD:7240710 20180130 OMIM 11714810 ADAR adenosine deaminase RNA specific gene DOID:0060257 dyschromatosis symmetrica hereditaria ISO RGD:736989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities PMID:12916015|PMID:15102079|PMID:15146470|PMID:15347341|PMID:15489923|PMID:15659327|PMID:15955093|PMID:16199547|PMID:16536805|PMID:16817193|PMID:16917490|PMID:16935814|PMID:17225010|PMID:17569068|PMID:17576681|PMID:18705826|PMID:19017046|PMID:19060901|PMID:20069304|PMID:20186421|PMID:20301648|PMID:20439151|PMID:21182352|PMID:21211811|PMID:21924887|PMID:21933234|PMID:22129056|PMID:22336994|PMID:22974014|PMID:23001123|PMID:24033266|PMID:24262145|PMID:24950769|PMID:25243380|PMID:25326637|PMID:25456137|PMID:25468572|PMID:25604658|PMID:25640679|PMID:25741868|PMID:25982145|PMID:26372505|PMID:26629815|PMID:26802932|PMID:26892242|PMID:27937139|PMID:28139822|PMID:28492532|PMID:28502085|PMID:28561207|PMID:29185800|PMID:29221912|PMID:29536976|PMID:29603717|PMID:29691679|PMID:29775506|PMID:29896739|PMID:29915444|PMID:30564185|PMID:30692772|PMID:30755392|PMID:31423758|PMID:31772029|PMID:32593192|PMID:32801363|PMID:32996714|PMID:33289110|PMID:33307271|PMID:33723056|PMID:34343497|PMID:8627722|PMID:9536098|PMID:9889202 11714810 ADAR adenosine deaminase RNA specific gene DOID:0111940 immunodeficiency 42 ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11714810 ADAR adenosine deaminase RNA specific gene DOID:0111962 combined immunodeficiency ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:25741868 11714810 ADAR adenosine deaminase RNA specific gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11714810 ADAR adenosine deaminase RNA specific gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:736989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 11714810 ADAR adenosine deaminase RNA specific gene DOID:10534 stomach cancer exacerbates ISO RGD:736989 D RGD:9068941 20210402 RGD mRNA:increased expression:mucosa of stomach (human) PMID:30563560|REF_RGD_ID:14700703 11714810 ADAR adenosine deaminase RNA specific gene DOID:10907 microcephaly ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11714810 ADAR adenosine deaminase RNA specific gene DOID:11166 papillomavirus infectious disease exacerbates ISO RGD:736989 D RGD:9068941 20210402 RGD associated with human immunodeficiency virus infectious disease;DNA:SNPs, haplotype:introns, 3' utr: multiple (human) PMID:31882741|REF_RGD_ID:125097510 11714810 ADAR adenosine deaminase RNA specific gene DOID:1540 parathyroid carcinoma ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11714810 ADAR adenosine deaminase RNA specific gene DOID:2030 anxiety disorder ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anxiety PMID:25741868 11714810 ADAR adenosine deaminase RNA specific gene DOID:2121 ectodermal dysplasia ISO RGD:736989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aplasia cutis congenita PMID:25741868|PMID:28492532|PMID:30755392 11714810 ADAR adenosine deaminase RNA specific gene DOID:3744 cervical squamous cell carcinoma disease_progression ISO RGD:736989 D RGD:9068941 20210402 RGD protein:increased expression:cervix squamous epithelium (human) PMID:28109322|REF_RGD_ID:125097518 11714810 ADAR adenosine deaminase RNA specific gene DOID:5082 liver cirrhosis ameliorates ISO RGD:736989 D RGD:9068941 20210402 RGD associated with human immunodeficiency virus infectious disease, hepatitis C;DNA:SNPs:exon 2, 3' utr:multiple (human) PMID:29018269|REF_RGD_ID:125097516 11714810 ADAR adenosine deaminase RNA specific gene DOID:5812 MHC class II deficiency ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11714810 ADAR adenosine deaminase RNA specific gene DOID:628 combined T cell and B cell immunodeficiency ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital combined immunodeficiency PMID:25741868 11714810 ADAR adenosine deaminase RNA specific gene DOID:630 genetic disease ISO RGD:736989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15146470|PMID:15659327|PMID:19060901|PMID:20186421|PMID:20300939|PMID:20301648|PMID:22129056|PMID:22974014|PMID:23001123|PMID:24033266|PMID:24262145|PMID:24950769|PMID:25456137|PMID:25468572|PMID:25604658|PMID:25741868|PMID:26629815|PMID:28139822|PMID:28492532|PMID:28561207|PMID:29185800|PMID:29221912|PMID:29603717|PMID:29896739|PMID:29915444|PMID:31772029|PMID:32593192|PMID:33289110|PMID:33307271|PMID:33723056|PMID:34343497|PMID:9889202 11714810 ADAR adenosine deaminase RNA specific gene DOID:8927 learning disability ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Specific learning disability PMID:25741868 11714810 ADAR adenosine deaminase RNA specific gene DOID:9000469 Viral Myocarditis ISO RGD:732453 D RGD:9068941 20210402 RGD associated with Coxsackievirus Infections PMID:27584568|REF_RGD_ID:125097517 11714810 ADAR adenosine deaminase RNA specific gene DOID:9000469 Viral Myocarditis ISO RGD:732453 D RGD:9068941 20210402 RGD protein:alternative form:heart (mouse) PMID:30669342|REF_RGD_ID:125097512 11714810 ADAR adenosine deaminase RNA specific gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:736989 D RGD:9068941 20210402 RGD associated with human immunodeficiency virus infectious disease;DNA:missense mutation:exon 2, 3' utr:p.K384R (rs2229857, rs1127326) (human) PMID:29906476|REF_RGD_ID:125097514 11714810 ADAR adenosine deaminase RNA specific gene DOID:9004017 Chronic Hepatitis C no_association ISO RGD:736989 D RGD:9068941 20210402 RGD DNA:SNP:exon: (rs1127309) (human) PMID:26911666|REF_RGD_ID:11554370 11714810 ADAR adenosine deaminase RNA specific gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:736989 D RGD:9068941 20210402 RGD DNA:silent mutation:CDS:p.V849V (rs1127309) (human) PMID:19434718|REF_RGD_ID:125097513 11714810 ADAR adenosine deaminase RNA specific gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:736989 D RGD:9068941 20210402 RGD DNA:snps, haplotype: (rs7515339, rs903323) (human) PMID:17979507|REF_RGD_ID:38599150 11714810 ADAR adenosine deaminase RNA specific gene DOID:9004610 Acute Lung Injury treatment ISO RGD:71099 D RGD:9068941 20200609 RGD PMID:18520702|REF_RGD_ID:10755331 11714810 ADAR adenosine deaminase RNA specific gene DOID:9005099 Salmonella Infections, Animal ISO RGD:732453 D RGD:9068941 20210402 RGD mRNA:splice variant:liver (mouse) PMID:12228285|REF_RGD_ID:125097511 11714810 ADAR adenosine deaminase RNA specific gene DOID:9007522 Aicardi-Goutieres Syndrome 6 ISO RGD:736989 D RGD:7240710 20180130 OMIM 11714810 ADAR adenosine deaminase RNA specific gene DOID:9007522 Aicardi-Goutieres Syndrome 6 ISO RGD:736989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 PMID:15146470|PMID:15955093|PMID:16817193|PMID:17576681|PMID:19017046|PMID:19060901|PMID:20301648|PMID:22129056|PMID:22974014|PMID:23001123|PMID:24033266|PMID:24262145|PMID:25243380|PMID:25326637|PMID:25456137|PMID:25604658|PMID:25741868|PMID:25982145|PMID:26372505|PMID:26629815|PMID:26802932|PMID:27937139|PMID:28139822|PMID:28492532|PMID:28561207|PMID:29185800|PMID:29221912|PMID:29536976|PMID:29603717|PMID:29691679|PMID:29775506|PMID:29915444|PMID:31772029|PMID:32801363|PMID:32996714|PMID:33289110|PMID:33307271|PMID:33723056|PMID:34343497|PMID:9536098|PMID:9889202 11714810 ADAR adenosine deaminase RNA specific gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:736989 D RGD:9068941 20210402 RGD DNA:SNP:enhancer: (rs4845384) (human) PMID:24351124|REF_RGD_ID:125097515 11714810 ADAR adenosine deaminase RNA specific gene DOID:9008939 Breast Neoplasms ISO RGD:736989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28188287 11714810 ADAR adenosine deaminase RNA specific gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11714810 ADAR adenosine deaminase RNA specific gene DOID:9256 colorectal cancer ISO RGD:736989 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Colorectal cancer 11714829 PREX1 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1315206 D RGD:9068941 20220825 MouseDO 11714829 PREX1 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1 gene DOID:10283 prostate cancer ISO RGD:1603014 D RGD:9068941 20200609 RGD protein:increased expression:prostate, lymph node PMID:19305425|REF_RGD_ID:2314605 11714829 PREX1 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1 gene DOID:630 genetic disease ISO RGD:1603014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714829 PREX1 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1603014 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:19305425|REF_RGD_ID:2314605 11714876 PTPRCAP protein tyrosine phosphatase receptor type C associated protein gene DOID:1059 intellectual disability ISO RGD:1349193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11714876 PTPRCAP protein tyrosine phosphatase receptor type C associated protein gene DOID:630 genetic disease ISO RGD:1349193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714876 PTPRCAP protein tyrosine phosphatase receptor type C associated protein gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1349193 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11714876 PTPRCAP protein tyrosine phosphatase receptor type C associated protein gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1349193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11714885 FGF6 fibroblast growth factor 6 gene DOID:0050989 episodic ataxia type 1 ISO RGD:732549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 11714885 FGF6 fibroblast growth factor 6 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:732549 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 11714885 FGF6 fibroblast growth factor 6 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:732549 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11714885 FGF6 fibroblast growth factor 6 gene DOID:630 genetic disease ISO RGD:732549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714885 FGF6 fibroblast growth factor 6 gene DOID:8634 prostate carcinoma in situ ISO RGD:732549 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:2289066|REF_RGD_ID:2301089 11714885 FGF6 fibroblast growth factor 6 gene DOID:9000955 Acute Otitis Media ISO RGD:1557013 D RGD:9068941 20210611 RGD mRNA:decreased expression:middle ear (mouse) PMID:21889218|REF_RGD_ID:127284853 11714885 FGF6 fibroblast growth factor 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732549 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:prostate PMID:10945637|REF_RGD_ID:2289066 11714885 FGF6 fibroblast growth factor 6 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:732549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11714892 COL21A1 collagen type XXI alpha 1 chain gene DOID:630 genetic disease ISO RGD:1347782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714892 COL21A1 collagen type XXI alpha 1 chain gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1347782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 11714931 STK17A serine/threonine kinase 17a gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1342550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11714931 STK17A serine/threonine kinase 17a gene DOID:630 genetic disease ISO RGD:1342550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 | ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA PMID:15016963|PMID:15254419|PMID:15520168|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:18074223|PMID:18676830|PMID:18725974|PMID:18829572|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20581867|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22228622|PMID:22271473|PMID:22357840|PMID:22658544|PMID:22729222|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23246288|PMID:23946963|PMID:24033266|PMID:24459181|PMID:24497998|PMID:24559322|PMID:24728327|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25599672|PMID:25741868|PMID:25915946|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26851524|PMID:27283355|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:28941273|PMID:29549527|PMID:30063105|PMID:30231930|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32595695|PMID:32778138|PMID:33077954|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21173233 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0050902 medulloblastoma ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729224|PMID:23066039|PMID:23100325|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28492532|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0050902 medulloblastoma ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27626068|PMID:28492532|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0050902 medulloblastoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25741868|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28492532|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0050902 medulloblastoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25741868|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28492532|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532|PMID:31568861 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0060075 estrogen-receptor positive breast cancer treatment ISO RGD:1352691 D RGD:9068941 20200609 RGD DNA:mutations:plasma: PMID:28881720|REF_RGD_ID:14402408 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0060586 Noonan syndrome 8 ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:25741868|PMID:26619011|PMID:27631024 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple hamartoma syndrome PMID:15930273|PMID:17376864|PMID:18829572|PMID:19366826|PMID:21824802|PMID:22120714|PMID:22228622|PMID:22729224|PMID:22949682|PMID:24033266|PMID:24497998|PMID:24728327|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26351730|PMID:26619011|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:28941273|PMID:30231930|PMID:31568861|PMID:32595695|PMID:33077954 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1352691 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Multiple hamartoma syndrome PMID:15930273|PMID:19366826|PMID:21824802|PMID:22228622|PMID:22729224|PMID:24033266|PMID:24497998|PMID:24728327|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26351730|PMID:26619011|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:28941273|PMID:30231930|PMID:31568861|PMID:32595695|PMID:33077954 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1352691 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Multiple hamartoma syndrome PMID:15930273|PMID:19366826|PMID:21824802|PMID:22228622|PMID:22729224|PMID:24033266|PMID:24497998|PMID:24728327|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26351730|PMID:26619011|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:28941273|PMID:30063105|PMID:30231930|PMID:31568861|PMID:32595695|PMID:33077954 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple hamartoma syndrome | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:15016963|PMID:15254419|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:18074223|PMID:18676830|PMID:18725974|PMID:18829572|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20581867|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22228622|PMID:22271473|PMID:22357840|PMID:22658544|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23246288|PMID:24033266|PMID:24497998|PMID:24559322|PMID:24728327|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25599672|PMID:25741868|PMID:25915946|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26851524|PMID:27283355|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:28941273|PMID:30063105|PMID:30231930|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32595695|PMID:32778138|PMID:33077954|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple hamartoma syndrome | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:15016963|PMID:15254419|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:18074223|PMID:18676830|PMID:18725974|PMID:18829572|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20581867|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22228622|PMID:22271473|PMID:22357840|PMID:22658544|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23246288|PMID:24033266|PMID:24459181|PMID:24497998|PMID:24559322|PMID:24728327|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25599672|PMID:25741868|PMID:25915946|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26851524|PMID:27283355|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:28941273|PMID:29549527|PMID:30063105|PMID:30231930|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32595695|PMID:32778138|PMID:33077954|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0080199 colorectal carcinoma severity ISO RGD:1352691 D RGD:9068941 20200609 RGD DNA:mutations:exons: PMID:17546593|REF_RGD_ID:14402406 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:15930273|PMID:17376864|PMID:19366826|PMID:22120714|PMID:22658544|PMID:23946963|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27631024|PMID:28151489|PMID:28492532|PMID:34008892 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0080322 polycystic kidney disease ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:25741868 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0080351 CLOVES syndrome ISO RGD:1352691 D RGD:7240710 20180130 OMIM 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0080351 CLOVES syndrome ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CLOVE SYNDROME | ClinVar Annotator: match by term: CLOVES syndrome | ClinVar Annotator: match by term: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES | ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0081001 Cowden syndrome 5 ISO RGD:1352691 D RGD:7240710 20180130 OMIM 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0081001 Cowden syndrome 5 ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cowden syndrome 5 PMID:17376864|PMID:19366826|PMID:21824802|PMID:22228622|PMID:22729222|PMID:22729224|PMID:22949682|PMID:23246288|PMID:24033266|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26619011|PMID:27283355|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:30197175|PMID:30231930|PMID:31568861|PMID:32595695|PMID:33077954 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0081284 rosette-forming glioneuronal tumor ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27126994|PMID:27626068|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22729223 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:620916 D RGD:9068941 20200609 RGD protein:increased expression:cholangiocyte PMID:24498161|REF_RGD_ID:10040950 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0111162 epidermal nevus ISO RGD:1352691 D RGD:7240710 20180130 OMIM 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0111162 epidermal nevus ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermal nevus | ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC PMID:15016963|PMID:15254419|PMID:15520168|PMID:15647370|PMID:15805248|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19366826|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22729224|PMID:24033266|PMID:24265155|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0111529 familial multiple nevi flammei ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Capillary malformations, congenital PMID:22658544|PMID:23946963|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:34008892 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0111546 Currarino syndrome ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:10283 prostate cancer ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate cancer PMID:15016963|PMID:15254419|PMID:15520168|PMID:15647370|PMID:15805248|PMID:18676830|PMID:18725974|PMID:19366826|PMID:19903786|PMID:20453058|PMID:20619739|PMID:22162582|PMID:22162589|PMID:22271473|PMID:25157968|PMID:25741868|PMID:26619011 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:10480 diaphragmatic eventration ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diaphragmatic eventration PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532|PMID:31568861 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:10534 stomach cancer ISO RGD:1352691 D RGD:7240710 20220209 OMIM 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:10534 stomach cancer ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:10534 stomach cancer disease_progression ISO RGD:1352691 D RGD:9068941 20201112 RGD Epstein-Barr Virus negative patient PMID:26980034|REF_RGD_ID:40818111 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:10534 stomach cancer disease_progression ISO RGD:1352691 D RGD:9068941 20201112 RGD associated with Epstein-Barr Virus Infections; DNA,protein:mutations:exon: PMID:30952761|REF_RGD_ID:40818110 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:10534 stomach cancer disease_progression ISO RGD:1352691 D RGD:9068941 20210430 RGD protein:increased expression:stomach (human) PMID:30747208|REF_RGD_ID:126790641 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1107 esophageal carcinoma ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1107 esophageal carcinoma ISO RGD:1352691 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1107 esophageal carcinoma ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1107 esophageal carcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1115 sarcoma ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23888070|PMID:23946963|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:27631024|PMID:28151489|PMID:28425981|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:11934 head and neck cancer ISO RGD:1352691 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Head and neck neoplasm PMID:15016963|PMID:15254419|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21430269|PMID:22162582|PMID:22162589|PMID:23408298|PMID:25157968|PMID:26619011 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1324 lung cancer ISO RGD:1352691 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:19366826|PMID:25157968|PMID:25741868|PMID:26619011 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:14250 Down syndrome ISO RGD:1352691 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Down syndrome PMID:25741868 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:14566 disease of cellular proliferation ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neoplasms PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27126994|PMID:27626068|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1520 colon carcinoma ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1520 colon carcinoma ISO RGD:1352691 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1520 colon carcinoma ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1520 colon carcinoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1520 colon carcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1612 breast cancer ISO RGD:1352691 D RGD:7240710 20180711 OMIM 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1612 breast cancer ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1612 breast cancer ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1749 squamous cell carcinoma ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24224046 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1909 melanoma ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1909 melanoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1909 melanoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1984 rectal benign neoplasm susceptibility ISO RGD:1352691 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs7651265) (human) PMID:20622004|REF_RGD_ID:5685669 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:234 colon adenocarcinoma ISO RGD:1352691 D RGD:9068941 20200609 RGD DNA:mutation PMID:17575153|REF_RGD_ID:5685670 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:2394 ovarian cancer ISO RGD:1352691 D RGD:7240710 20190213 OMIM 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:2513 basal cell carcinoma ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:2526 prostate adenocarcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate | ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:2671 transitional cell carcinoma ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29549527|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:2752 glycogen storage disease II ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:15016963|PMID:21266528|PMID:23334666 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:2871 endometrial carcinoma ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:2926 Klippel-Trenaunay syndrome ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Angio-osteohypertrophy syndrome PMID:18829572|PMID:22228622|PMID:22729224|PMID:22949682|PMID:23246288|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26619011|PMID:27283355|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:30231930|PMID:32595695|PMID:33077954 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:299 adenocarcinoma ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22484628 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3068 glioblastoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, somatic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3070 high grade glioma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brainstem glioma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3070 high grade glioma ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brainstem glioma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29549527|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3121 gallbladder cancer ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Gallbladder cancer PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23888070|PMID:23946963|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:27631024|PMID:28151489|PMID:28425981|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3149 keratoacanthoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Keratoacanthoma PMID:22949682|PMID:23246288|PMID:25741868|PMID:26619011|PMID:27283355|PMID:28151489|PMID:28492532 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3450 cutaneous Paget's disease severity ISO RGD:1352691 D RGD:9068941 20200609 RGD DNA:mutations:multiple: PMID:22522847|REF_RGD_ID:14402410 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3458 breast adenocarcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast adenocarcinoma, somatic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3459 breast carcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carcinoma of breast PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27126994|PMID:27626068|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3571 liver cancer susceptibility ISO RGD:1551142 D RGD:9068941 20200609 RGD PMID:20583210|REF_RGD_ID:14402407 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:363 uterine cancer ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3717 gastric adenocarcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3905 lung carcinoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15647370|PMID:15805248|PMID:17376864|PMID:18676830|PMID:18725974|PMID:19366826|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22729224|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3907 lung squamous cell carcinoma ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29549527|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Non-small cell lung cancer | ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3910 lung adenocarcinoma ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29549527|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3948 adrenocortical carcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma | ClinVar Annotator: match by term: Adrenocortical carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28492532|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:4450 renal cell carcinoma ISO RGD:1352691 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:4450 renal cell carcinoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:4450 renal cell carcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:4465 papillary renal cell carcinoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26851524|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:4511 breast angiosarcoma ISO RGD:1352691 D RGD:9068941 20220310 RGD DNA:mutation:multiple (human) PMID:32123305|REF_RGD_ID:151665102 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:4914 esophagus adenocarcinoma ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23525077 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:4948 gallbladder carcinoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of gallbladder PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475|PMID:32778138 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:5041 esophageal cancer ISO RGD:1352691 D RGD:9068941 20220630 RGD protein:increased expression:esophagus (human) PMID:27188433|REF_RGD_ID:152995510 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:5409 lung small cell carcinoma ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26851524|PMID:27631024|PMID:28151489|PMID:28425981|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:5409 lung small cell carcinoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26851524|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:5411 lung oat cell carcinoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung oat cell carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26851524|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1352691 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29549527|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:6171 uterine carcinosarcoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:630 genetic disease ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15930273|PMID:17376864|PMID:20952405|PMID:22209294|PMID:22729224|PMID:24265155|PMID:24497998|PMID:25741868|PMID:26351730|PMID:26619011|PMID:27631024|PMID:28492532|PMID:28941273|PMID:29549527 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:6457 Cowden syndrome ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cowden disease | ClinVar Annotator: match by term: Cowden syndrome | ClinVar Annotator: match by term: Cowden's syndrome PMID:15016963|PMID:15254419|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16199547|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17576681|PMID:18074223|PMID:18676830|PMID:18725974|PMID:18829572|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20581867|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22228622|PMID:22271473|PMID:22357840|PMID:22430209|PMID:22658544|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23754335|PMID:24033266|PMID:24459181|PMID:24497998|PMID:24559322|PMID:24728327|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25599672|PMID:25741868|PMID:25915946|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26749308|PMID:26851524|PMID:27283355|PMID:27631024|PMID:28151489|PMID:28475857|PMID:28492532|PMID:28502725|PMID:28941273|PMID:29549527|PMID:30063105|PMID:30231930|PMID:31536475|PMID:31568861|PMID:31775759|PMID:31780696|PMID:32595695|PMID:32778138|PMID:33077954|PMID:34402524|PMID:34496175|PMID:9536098 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:6498 seborrheic keratosis ISO RGD:1352691 D RGD:7240710 20180130 OMIM 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:6498 seborrheic keratosis ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keratosis Seborrheica | ClinVar Annotator: match by term: Seborrheic keratosis PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:6536 plasma cell neoplasm ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:17376864|PMID:18074223|PMID:20581867|PMID:25741868|PMID:26619011|PMID:28492532 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:684 hepatocellular carcinoma ISO RGD:1352691 D RGD:7240710 20180130 OMIM 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:684 hepatocellular carcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:684 hepatocellular carcinoma no_association ISO RGD:1352691 D RGD:9068941 20200609 RGD DNA:mutation:exon: PMID:16331247|REF_RGD_ID:14402405 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:684 hepatocellular carcinoma severity ISO RGD:1352691 D RGD:9068941 20200609 RGD DNA:mutations:exons: PMID:24673525|REF_RGD_ID:14402404 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1352691 D RGD:9068941 20200609 RGD DNA:SNPs: :rs17849071,rs17849079(human) PMID:26823876|REF_RGD_ID:11556371 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:684 hepatocellular carcinoma treatment ISO RGD:620916 D RGD:9068941 20220520 RGD PMID:25999787|REF_RGD_ID:152177911 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:769 neuroblastoma ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:17376864|PMID:18074223|PMID:20581867|PMID:25741868|PMID:26619011|PMID:28492532 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:8923 skin melanoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:8923 skin melanoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9000081 Lymphatic Metastasis ISO RGD:1352691 D RGD:9068941 20200609 RGD associated with Colorectal Neoplasms PMID:25550888|REF_RGD_ID:13432030 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9000217 Stomach Neoplasms ISO RGD:1352691 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Stomach Neoplasms PMID:17376864|PMID:21824802|PMID:22729224|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9000918 Disease Progression ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29106415 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29106415 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1352691 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:mutations:: PMID:23302486|REF_RGD_ID:14402409 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:19366826|PMID:22228622|PMID:22729224|PMID:22949682|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26619011|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:28941273|PMID:30231930|PMID:32595695|PMID:33077954 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9001282 Cerebral Cavernous Malformation 4 ISO RGD:1352691 D RGD:7240710 20220629 OMIM 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31025080 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:25741868|PMID:28492532 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9002221 Hyperplasia ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22729222 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9002221 Hyperplasia ISO RGD:1551142 D RGD:9068941 20200609 RGD PMID:22214849|REF_RGD_ID:13207413 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881|PMID:29610475 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9002403 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22729224 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9002647 Megalencephaly - Cutis Marmorata Telangiectatica Congenita ISO RGD:1352691 D RGD:7240710 20180130 OMIM 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9002647 Megalencephaly - Cutis Marmorata Telangiectatica Congenita ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MACROCEPHALY-CAPILLARY MALFORMATION | ClinVar Annotator: match by term: Macrocephaly cutis marmorata telangiectatica congenita | ClinVar Annotator: match by term: Megalencephaly-capillary malformation-polymicrogyria syndrome | ClinVar Annotator: match by term: PIK3CA related overgrowth spectrum PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:18829572|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21266528|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22228622|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24459181|PMID:24497998|PMID:24782230|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26749308|PMID:26822237|PMID:27126994|PMID:27191687|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28191889|PMID:28425981|PMID:28492532|PMID:28502725|PMID:28941273|PMID:29549527|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30231930|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32595695|PMID:32733937|PMID:32778138|PMID:33077954|PMID:34008892|PMID:34170046|PMID:34402524|PMID:34496175|PMID:34733958 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22228622|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28502725|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30231930|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32595695|PMID:33077954|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9002762 Ovarian Neoplasms ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:18829572|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:33077954|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9003133 Hypertelorism ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532|PMID:31568861 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9003191 Vascular Malformations ISO RGD:1551142 D RGD:9068941 20200609 RGD DNA:missense mutation:exon 20:p.H1047R (mouse) PMID:25958091|REF_RGD_ID:13207411 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9003196 Penile Neoplasms ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18355852 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29549527|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9003571 Paraproteinemias ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:17376864|PMID:18074223|PMID:20581867|PMID:25741868|PMID:26619011|PMID:28492532 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9003816 Macrocephaly ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megalencephaly, autosomal dominant PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532|PMID:31568861 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9004547 Thyroid Neoplasms ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:15930273|PMID:17376864|PMID:22120714|PMID:22949682|PMID:23246288|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27283355|PMID:28151489|PMID:28492532 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9004657 Weight Gain ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9005172 Lung Neoplasms ISO RGD:1352691 D RGD:7240710 20180130 OMIM 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nasopharyngeal Neoplasms PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475|PMID:32778138 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9006085 Megalodactyly ISO RGD:1352691 D RGD:7240710 20200304 OMIM 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9006085 Megalodactyly ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Macrodactyly PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28492532|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Head and Neck Neoplasms PMID:15016963|PMID:15254419|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21430269|PMID:22162582|PMID:22162589|PMID:23408298|PMID:25157968|PMID:26619011 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9006257 Growth Disorders ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22729222 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9006394 CLAPO Syndrome ISO RGD:1352691 D RGD:7240710 20200923 OMIM 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9006394 CLAPO Syndrome ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CLAPO syndrome | ClinVar Annotator: match by term: Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24033266|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28492532|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:1551142 D RGD:9068941 20230302 RGD PMID:36044268|REF_RGD_ID:156430337 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9007096 Stroke ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Stroke PMID:15016963|PMID:15254419|PMID:15520168|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21430269|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22729222|PMID:23946963|PMID:25157968|PMID:25741868|PMID:26619011|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9007364 Mouth Neoplasms ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of floor of mouth PMID:17376864|PMID:21824802|PMID:22729224|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9007502 Brain Neoplasms ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26851524|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9008086 Developmental Disabilities ISO RGD:1352691 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9008237 Hemimegalencephaly ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Unilateral Megalencephaly PMID:25741868|PMID:28492532 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9008443 Colorectal Neoplasms ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29549527|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9008797 Facial Asymmetry ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Facial asymmetry PMID:25741868|PMID:28492532 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9008939 Breast Neoplasms ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29549527|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9008952 Breast Cancer, Familial ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28492532|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9256 colorectal cancer ISO RGD:1352691 D RGD:7240710 20200226 OMIM 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9256 colorectal cancer ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:15016963|PMID:15254419|PMID:15520168|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21430269|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22729222|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9256 colorectal cancer ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:15016963|PMID:15254419|PMID:15520168|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21430269|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22729222|PMID:23946963|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:34496175 11714942 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9538 multiple myeloma ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:17376864|PMID:18074223|PMID:20581867|PMID:25741868|PMID:26619011|PMID:28492532 11714966 AKAP11 A-kinase anchoring protein 11 gene DOID:3312 bipolar disorder ISO RGD:736276 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35410376 11714966 AKAP11 A-kinase anchoring protein 11 gene DOID:5419 schizophrenia ISO RGD:736276 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35410376 11714966 AKAP11 A-kinase anchoring protein 11 gene DOID:630 genetic disease ISO RGD:736276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714966 AKAP11 A-kinase anchoring protein 11 gene DOID:9007364 Mouth Neoplasms ISO RGD:736276 D RGD:9068941 20200609 RGD mRNA:increased expression:oral mucosa: PMID:15849745|REF_RGD_ID:14348954 11714967 CD226 CD226 molecule gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1323011 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11714967 CD226 CD226 molecule gene DOID:289 endometriosis ISO RGD:1323011 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11714967 CD226 CD226 molecule gene DOID:630 genetic disease ISO RGD:1323011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714967 CD226 CD226 molecule gene DOID:6420 pulmonary valve stenosis ISO RGD:1323011 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 11714967 CD226 CD226 molecule gene DOID:8445 intestinal volvulus ISO RGD:1323011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11714967 CD226 CD226 molecule gene DOID:9003281 Spontaneous Abortions ISO RGD:1323011 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11714967 CD226 CD226 molecule gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1323011 D RGD:9068941 20201118 RGD PMID:21695691|REF_RGD_ID:40818295 11714967 CD226 CD226 molecule gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11714967 CD226 CD226 molecule gene DOID:9008419 Volvulus Of Midgut ISO RGD:1323011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11714967 CD226 CD226 molecule gene DOID:9008443 Colorectal Neoplasms ISO RGD:1323011 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16015041 11714967 CD226 CD226 molecule gene DOID:9074 systemic lupus erythematosus ISO RGD:1323011 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26808113 11714980 TSPAN32 tetraspanin 32 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11714980 TSPAN32 tetraspanin 32 gene DOID:0080773 delta beta-thalassemia ISO RGD:1318659 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11714980 TSPAN32 tetraspanin 32 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11714980 TSPAN32 tetraspanin 32 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1318659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11714980 TSPAN32 tetraspanin 32 gene DOID:630 genetic disease ISO RGD:1318659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11714980 TSPAN32 tetraspanin 32 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1318659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11715002 ZNF471 zinc finger protein 471 gene DOID:630 genetic disease ISO RGD:1350704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11715041 BCAM basal cell adhesion molecule (Lutheran blood group) gene DOID:630 genetic disease ISO RGD:68545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11715060 SIX1 SIX homeobox 1 gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:731648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA PMID:25741868 11715060 SIX1 SIX homeobox 1 gene DOID:0110553 autosomal dominant nonsyndromic deafness 23 ISO RGD:731648 D RGD:7240710 20180130 OMIM 11715060 SIX1 SIX homeobox 1 gene DOID:0110553 autosomal dominant nonsyndromic deafness 23 ISO RGD:731648 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 23 PMID:10777717|PMID:12843324|PMID:15141091|PMID:16652090|PMID:16971658|PMID:19497856|PMID:21254961|PMID:21280147|PMID:21700001|PMID:24033266|PMID:25326635|PMID:25741868|PMID:25788563|PMID:28492532|PMID:30311386|PMID:35802133|PMID:36633841 11715060 SIX1 SIX homeobox 1 gene DOID:0111423 branchiootorenal syndrome 1 ISO RGD:731648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Branchiootorenal Syndrome 1 | ClinVar Annotator: match by term: Branchiootorenal syndrome 1 PMID:12843324|PMID:15141091|PMID:16652090|PMID:19497856|PMID:21254961|PMID:21280147|PMID:24033266|PMID:25326635|PMID:25741868|PMID:25788563|PMID:28492532 11715060 SIX1 SIX homeobox 1 gene DOID:14702 branchiootorenal syndrome ISO RGD:731648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Branchiootorenal Spectrum Disorders | ClinVar Annotator: match by term: Melnick-Fraser syndrome PMID:18330911|PMID:24164807|PMID:25741868 11715060 SIX1 SIX homeobox 1 gene DOID:1612 breast cancer severity ISO RGD:731648 D RGD:9068941 20200609 RGD mRNA:increased expression:breast epithelium (human) PMID:9770533|REF_RGD_ID:11561960 11715060 SIX1 SIX homeobox 1 gene DOID:2154 nephroblastoma ISO RGD:731648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 11715060 SIX1 SIX homeobox 1 gene DOID:2154 nephroblastoma severity ISO RGD:731648 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q177R (human) PMID:25670083|REF_RGD_ID:11561953 11715060 SIX1 SIX homeobox 1 gene DOID:2154 nephroblastoma severity ISO RGD:731648 D RGD:9068941 20200609 RGD protein:increased expression:kidney, blastema (human) PMID:22180226|REF_RGD_ID:11561963 11715060 SIX1 SIX homeobox 1 gene DOID:3192 neurilemmoma ISO RGD:731648 D RGD:9068941 20200609 RGD mRNA:increased expression:Schwann cell (human) PMID:19901965|REF_RGD_ID:11561959 11715060 SIX1 SIX homeobox 1 gene DOID:4001 ovarian carcinoma severity ISO RGD:731648 D RGD:9068941 20200609 RGD mRNA:increased expression:female gonad (human) PMID:17409410|REF_RGD_ID:11561962 11715060 SIX1 SIX homeobox 1 gene DOID:630 genetic disease ISO RGD:731648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:30311386 11715060 SIX1 SIX homeobox 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:731648 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:17008870|REF_RGD_ID:11561961 11715060 SIX1 SIX homeobox 1 gene DOID:9000096 Lung Agenesis ISO RGD:1550080 D RGD:9068941 20200609 RGD PMID:21385574|REF_RGD_ID:11561981 11715060 SIX1 SIX homeobox 1 gene DOID:9000096 Lung Agenesis ISO RGD:620906 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:lung epithelium: PMID:24528972|REF_RGD_ID:8554873 11715060 SIX1 SIX homeobox 1 gene DOID:9000096 Lung Agenesis ISO RGD:731648 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (rat) PMID:24528972|REF_RGD_ID:8554873 11715060 SIX1 SIX homeobox 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731648 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:23435380|REF_RGD_ID:11561950 11715060 SIX1 SIX homeobox 1 gene DOID:9001460 22q11 Deletion Syndrome ISO RGD:1550080 D RGD:9068941 20200609 RGD PMID:21364285|REF_RGD_ID:11561941 11715060 SIX1 SIX homeobox 1 gene DOID:9001767 Unilateral Hearing Loss ISO RGD:731648 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Unilateral deafness 11715060 SIX1 SIX homeobox 1 gene DOID:9002083 Branchiootic Syndrome 1 ISO RGD:731648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branchiootic syndrome 1 PMID:12843324|PMID:15141091|PMID:16652090|PMID:19497856|PMID:21254961|PMID:24033266|PMID:25741868 11715060 SIX1 SIX homeobox 1 gene DOID:9004538 Hearing Loss ISO RGD:731648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30311386 11715060 SIX1 SIX homeobox 1 gene DOID:9005835 Congenital Abnormalities ISO RGD:1550080 D RGD:9068941 20200609 RGD PMID:12834866|REF_RGD_ID:8554898 11715060 SIX1 SIX homeobox 1 gene DOID:9005835 Congenital Abnormalities ISO RGD:731648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12834866 11715060 SIX1 SIX homeobox 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:731648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27259717 11715060 SIX1 SIX homeobox 1 gene DOID:9007844 Branchiootic Syndrome 3 ISO RGD:731648 D RGD:7240710 20180130 OMIM 11715060 SIX1 SIX homeobox 1 gene DOID:9007844 Branchiootic Syndrome 3 ISO RGD:731648 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Branchiootic syndrome 3 PMID:10777717|PMID:12843324|PMID:15141091|PMID:16652090|PMID:16971658|PMID:17637804|PMID:18330911|PMID:18666230|PMID:19497856|PMID:21254961|PMID:21280147|PMID:21700001|PMID:24033266|PMID:24164807|PMID:25326635|PMID:25414181|PMID:25741868|PMID:25788563|PMID:28492532|PMID:30311386|PMID:31980437|PMID:35802133|PMID:36633841 11715060 SIX1 SIX homeobox 1 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:731648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant 11715060 SIX1 SIX homeobox 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:731648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12834866 11715066 HOXD13 homeobox D13 gene DOID:0050581 brachydactyly ISO RGD:1318172 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:p.S308C (923C>G), p.I314L (940A>C) (human) PMID:12649808|REF_RGD_ID:12743593 11715066 HOXD13 homeobox D13 gene DOID:0050689 brachydactyly-syndactyly syndrome ISO RGD:1318172 D RGD:7240710 20180130 OMIM 11715066 HOXD13 homeobox D13 gene DOID:0050689 brachydactyly-syndactyly syndrome ISO RGD:1318172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly-syndactyly syndrome | ClinVar Annotator: match by term: Brachydactyly-syndactyly-oligodactyly syndrome PMID:17236141|PMID:22233338|PMID:23995701|PMID:25741868 11715066 HOXD13 homeobox D13 gene DOID:0060242 synpolydactyly ISO RGD:1318172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Synpolydactyly PMID:22233338|PMID:25741868 11715066 HOXD13 homeobox D13 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1318172 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11715066 HOXD13 homeobox D13 gene DOID:0110967 brachydactyly type A4 ISO RGD:1318172 D RGD:9068941 20200609 RGD DNA:deletion:exon:p.A53_A59del (c.157_177del) (human) PMID:17236141|REF_RGD_ID:12738470 11715066 HOXD13 homeobox D13 gene DOID:0110971 brachydactyly type D ISO RGD:1318172 D RGD:7240710 20180130 OMIM 11715066 HOXD13 homeobox D13 gene DOID:0110971 brachydactyly type D ISO RGD:1318172 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brachydactyly type D PMID:12620993|PMID:12649808|PMID:16314414|PMID:25741868|PMID:28492532 11715066 HOXD13 homeobox D13 gene DOID:0110972 brachydactyly type E1 ISO RGD:1318172 D RGD:7240710 20180130 OMIM 11715066 HOXD13 homeobox D13 gene DOID:0110972 brachydactyly type E1 ISO RGD:1318172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly type E1 PMID:12620993|PMID:12649808|PMID:16314414|PMID:22233338|PMID:25741868|PMID:28492532 11715066 HOXD13 homeobox D13 gene DOID:0111819 syndactyly type 5 ISO RGD:1318172 D RGD:7240710 20180130 OMIM 11715066 HOXD13 homeobox D13 gene DOID:0111819 syndactyly type 5 ISO RGD:1318172 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Syndactyly type 5 PMID:15333588|PMID:16222680|PMID:17236141|PMID:215242|PMID:25741868|PMID:28492532|PMID:9207113 11715066 HOXD13 homeobox D13 gene DOID:10892 hypospadias ISO RGD:1308417 D RGD:9068941 20200609 RGD mRNA:decreased expression:male genital tubercle PMID:27079746|REF_RGD_ID:12743602 11715066 HOXD13 homeobox D13 gene DOID:11193 syndactyly ISO RGD:1318172 D RGD:9068941 20220721 CTD CTD Direct Evidence: marker/mechanism 11715066 HOXD13 homeobox D13 gene DOID:11383 cryptorchidism ISO RGD:1318172 D RGD:9068941 20200609 RGD DNA:splice-site mutation:exon:180A>G (human) PMID:17216618|REF_RGD_ID:12743597 11715066 HOXD13 homeobox D13 gene DOID:1148 polydactyly ISO RGD:1318172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:22233338|PMID:25741868 11715066 HOXD13 homeobox D13 gene DOID:11836 clubfoot ISO RGD:1318172 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs13392701 (human) PMID:16331564|REF_RGD_ID:12743594 11715066 HOXD13 homeobox D13 gene DOID:1227 neutropenia ISO RGD:1318172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 11715066 HOXD13 homeobox D13 gene DOID:14679 VACTERL association ISO RGD:1318172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: VACTERL association PMID:19006232 11715066 HOXD13 homeobox D13 gene DOID:2355 anemia ISO RGD:1318172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 11715066 HOXD13 homeobox D13 gene DOID:614 lymphopenia ISO RGD:1318172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 11715066 HOXD13 homeobox D13 gene DOID:630 genetic disease ISO RGD:1318172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22233338|PMID:25741868 11715066 HOXD13 homeobox D13 gene DOID:7148 rheumatoid arthritis ISO RGD:1318172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 11715066 HOXD13 homeobox D13 gene DOID:9001471 Anorectal Malformations ISO RGD:1308417 D RGD:9068941 20200609 RGD mRNA:decreased expression:hindgut PMID:17161201|REF_RGD_ID:1599527 11715066 HOXD13 homeobox D13 gene DOID:9001471 Anorectal Malformations ISO RGD:1308417 D RGD:9068941 20200609 RGD mRNA:decreased expression:rectum PMID:27079746|REF_RGD_ID:12743602 11715066 HOXD13 homeobox D13 gene DOID:9005586 Synpolydactyly 1 ISO RGD:1318172 D RGD:7240710 20180822 OMIM 11715066 HOXD13 homeobox D13 gene DOID:9005586 Synpolydactyly 1 ISO RGD:1318172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Synpolydactyly type 1 PMID:12414828|PMID:12900906|PMID:14698619|PMID:15333588|PMID:15917204|PMID:16222680|PMID:18399101|PMID:19060004|PMID:215242|PMID:21814222|PMID:22233338|PMID:22373878|PMID:22374128|PMID:23948678|PMID:24055421|PMID:24789103|PMID:25741868|PMID:28492532|PMID:30408610|PMID:7666393|PMID:8620844|PMID:8817328|PMID:9207113|PMID:9758628 11715066 HOXD13 homeobox D13 gene DOID:9005586 Synpolydactyly 1 severity ISO RGD:1318172 D RGD:9068941 20200609 RGD DNA:insertion:exon PMID:9207113|REF_RGD_ID:12743592 11715066 HOXD13 homeobox D13 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1318172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8620844 11715066 HOXD13 homeobox D13 gene DOID:9006432 Brachydactyly, Type E ISO RGD:1318172 D RGD:9068941 20200609 RGD DNA:nonsense mutation:exon:p.R274X (c.820C>T) (human) PMID:22233338|REF_RGD_ID:12743596 11715072 ARFGAP1 ADP ribosylation factor GTPase activating protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1352175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11715072 ARFGAP1 ADP ribosylation factor GTPase activating protein 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1352175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11715072 ARFGAP1 ADP ribosylation factor GTPase activating protein 1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1352175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11715072 ARFGAP1 ADP ribosylation factor GTPase activating protein 1 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1352175 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11715072 ARFGAP1 ADP ribosylation factor GTPase activating protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1352175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11715072 ARFGAP1 ADP ribosylation factor GTPase activating protein 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1352175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 11715072 ARFGAP1 ADP ribosylation factor GTPase activating protein 1 gene DOID:1826 epilepsy ISO RGD:1352175 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11715072 ARFGAP1 ADP ribosylation factor GTPase activating protein 1 gene DOID:630 genetic disease ISO RGD:1352175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11715072 ARFGAP1 ADP ribosylation factor GTPase activating protein 1 gene DOID:863 nervous system disease ISO RGD:1352175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20805988 11715072 ARFGAP1 ADP ribosylation factor GTPase activating protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1352175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20805988 11715106 ZCCHC24 zinc finger CCHC-type containing 24 gene DOID:630 genetic disease ISO RGD:1314625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11715114 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:0050746 mantle cell lymphoma ISO RGD:1353500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17148679 11715114 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1353500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 11715114 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1353500 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 11715114 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1353500 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 11715114 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:13515 tuberous sclerosis treatment ISO RGD:620259 D RGD:9068941 20200609 RGD PMID:12384518|REF_RGD_ID:1549429 11715114 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1353500 D RGD:9068941 20210903 RGD human cells in mouse model PMID:23632475|REF_RGD_ID:150404268 11715114 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1353500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11715114 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:607 paraplegia ISO RGD:1353500 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11715114 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:630 genetic disease ISO RGD:1353500 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11715114 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:1353500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21813464 11715114 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:9005372 Inflammation ISO RGD:1353500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 11715114 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:620259 D RGD:9068941 20200609 RGD PMID:16439989|REF_RGD_ID:10401145 11715114 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1353500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19458359 11715140 CAVIN2 caveolae associated protein 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1348108 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25792468 11715140 CAVIN2 caveolae associated protein 2 gene DOID:630 genetic disease ISO RGD:1348108 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11715140 CAVIN2 caveolae associated protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11715146 ETFDH electron transfer flavoprotein dehydrogenase gene DOID:0014667 disease of metabolism ISO RGD:1354191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17050691 11715146 ETFDH electron transfer flavoprotein dehydrogenase gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1354191 D RGD:7240710 20180130 OMIM 11715146 ETFDH electron transfer flavoprotein dehydrogenase gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1354191 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glutaric acidemia IIc | ClinVar Annotator: match by term: Glutaric acidemia iic, late-onset | ClinVar Annotator: match by term: Glutaric acidemia type 2C | ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:12359134|PMID:12815589|PMID:15669683|PMID:16199547|PMID:16434667|PMID:16510302|PMID:17060596|PMID:17412732|PMID:17576681|PMID:17584774|PMID:17977044|PMID:18289905|PMID:19249206|PMID:19265687|PMID:19758981|PMID:20023066|PMID:20138856|PMID:20370797|PMID:21088898|PMID:21347544|PMID:21907580|PMID:22013910|PMID:22041377|PMID:22611163|PMID:22664151|PMID:23106979|PMID:23628458|PMID:23700290|PMID:23727839|PMID:23785301|PMID:24190796|PMID:24357026|PMID:24516753|PMID:24522293|PMID:25200064|PMID:25326637|PMID:25640679|PMID:25741868|PMID:25827849|PMID:25913573|PMID:26349199|PMID:26403312|PMID:26409463|PMID:27000805|PMID:27038534|PMID:27060313|PMID:27270537|PMID:27935074|PMID:28083701|PMID:28388738|PMID:28456887|PMID:28468868|PMID:28492532|PMID:28685490|PMID:28899466|PMID:28914566|PMID:28973083|PMID:29249369|PMID:29336361|PMID:29339009|PMID:29376578|PMID:29961769|PMID:29988809|PMID:30022752|PMID:30027710|PMID:30424791|PMID:30477628|PMID:30587156|PMID:30626930|PMID:30904546|PMID:3126856|PMID:31268564|PMID:31331668|PMID:31418342|PMID:31904027|PMID:31997039|PMID:32007756|PMID:32064983|PMID:32393189|PMID:32733732|PMID:32746448|PMID:32793418|PMID:32804429|PMID:32925727|PMID:33000234|PMID:33473335|PMID:33589341|PMID:33823724|PMID:34041209|PMID:34066864|PMID:34573316|PMID:34819910|PMID:35090233|PMID:35309592|PMID:7173260|PMID:7757062|PMID:9536098 11715146 ETFDH electron transfer flavoprotein dehydrogenase gene DOID:11372 megacolon ISO RGD:1354191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11715146 ETFDH electron transfer flavoprotein dehydrogenase gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1354191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 11715146 ETFDH electron transfer flavoprotein dehydrogenase gene DOID:12377 spinal muscular atrophy ISO RGD:1354191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy 11715146 ETFDH electron transfer flavoprotein dehydrogenase gene DOID:423 myopathy ISO RGD:1354191 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 11715146 ETFDH electron transfer flavoprotein dehydrogenase gene DOID:630 genetic disease ISO RGD:1354191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12359134|PMID:15669683|PMID:16434667|PMID:17412732|PMID:17576681|PMID:22611163|PMID:25741868|PMID:28492532|PMID:29339009|PMID:29376578|PMID:31331668|PMID:32925727|PMID:9536098 11715146 ETFDH electron transfer flavoprotein dehydrogenase gene DOID:9970 obesity ISO RGD:1354191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 11715168 NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1604552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:16200211|PMID:18180188|PMID:19384974|PMID:20571988|PMID:21924235|PMID:22099533|PMID:25326635|PMID:25741868|PMID:26795593|PMID:27597947|PMID:28492532|PMID:31130284 11715168 NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:0080907 Cockayne syndrome A ISO RGD:1604552 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cockayne syndrome type 1 | ClinVar Annotator: match by term: Cockayne syndrome type 1 PMID:14661080|PMID:15744458|PMID:19329487|PMID:19384974|PMID:19894250|PMID:20571988|PMID:21681106|PMID:21924235|PMID:22099533|PMID:24033266|PMID:25333069|PMID:25741868|PMID:27597947|PMID:28492532|PMID:29572252 11715168 NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1604552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:16200211|PMID:18180188|PMID:19384974|PMID:20571988|PMID:21924235|PMID:22099533|PMID:25326635|PMID:25741868|PMID:26795593|PMID:27597947|PMID:28492532|PMID:31130284 11715168 NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:0112075 nuclear type mitochondrial complex I deficiency 10 ISO RGD:1604552 D RGD:7240710 20190315 OMIM 11715168 NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:0112075 nuclear type mitochondrial complex I deficiency 10 ISO RGD:1604552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 PMID:16200211|PMID:18180188|PMID:19384974|PMID:20571988|PMID:20818383|PMID:21924235|PMID:22099533|PMID:25326635|PMID:25741868|PMID:26795593|PMID:27597947|PMID:28492532|PMID:31130284 11715168 NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:2962 Cockayne syndrome ISO RGD:1604552 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cockayne syndrome | ClinVar Annotator: match by term: Progeroid nanism PMID:14661080|PMID:15744458|PMID:19329487|PMID:19894250|PMID:24033266|PMID:25333069|PMID:25741868|PMID:28492532|PMID:29572252 11715168 NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:3652 Leigh disease ISO RGD:1604552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:16200211|PMID:18180188|PMID:20818383|PMID:22644603|PMID:25326635|PMID:25741868|PMID:26795593|PMID:28492532|PMID:31130284 11715168 NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:630 genetic disease ISO RGD:1604552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16200211|PMID:18180188|PMID:25326635|PMID:25741868|PMID:26795593|PMID:28492532|PMID:31130284 11715168 NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1604552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:16200211|PMID:18180188|PMID:20818383|PMID:25326635|PMID:25741868|PMID:26795593|PMID:28492532|PMID:31130284 11715168 NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11715168 NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:9005683 Metabolic Brain Diseases, Inborn ISO RGD:1604552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16200211 11715184 AVP arginine vasopressin gene DOID:0050700 cardiomyopathy ISO RGD:68968 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:12145768 11715184 AVP arginine vasopressin gene DOID:0060001 withdrawal disorder ISO RGD:68968 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:4040330 11715184 AVP arginine vasopressin gene DOID:0090103 Huntington's disease-like 1 ISO RGD:68968 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11715184 AVP arginine vasopressin gene DOID:10762 portal hypertension ISO RGD:2184 D RGD:9068941 20200611 RGD PMID:18987488|REF_RGD_ID:2301924 11715184 AVP arginine vasopressin gene DOID:10762 portal hypertension ISO RGD:68968 D RGD:9068941 20200611 CTD CTD Direct Evidence: therapeutic PMID:6696534 11715184 AVP arginine vasopressin gene DOID:10763 hypertension ISO RGD:2184 D RGD:9068941 20200611 RGD protein:increased expression:carotid artery PMID:12623976|REF_RGD_ID:1601305 11715184 AVP arginine vasopressin gene DOID:10763 hypertension ISO RGD:2184 D RGD:9068941 20200611 RGD protein:increased expression:plasma PMID:16582573|REF_RGD_ID:1601243 11715184 AVP arginine vasopressin gene DOID:10763 hypertension ISO RGD:68968 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:1663982|PMID:19133994|PMID:3346065|PMID:4040330|PMID:6367368 11715184 AVP arginine vasopressin gene DOID:10914 amnestic disorder ISO RGD:68968 D RGD:9068941 20200611 CTD CTD Direct Evidence: therapeutic PMID:7562510 11715184 AVP arginine vasopressin gene DOID:12388 neurohypophyseal diabetes insipidus ISO RGD:68968 D RGD:7240710 20200610 OMIM 11715184 AVP arginine vasopressin gene DOID:12388 neurohypophyseal diabetes insipidus ISO RGD:68968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes insipidus, neurohypophyseal, autosomal recessive | ClinVar Annotator: match by term: Neurohypophyseal diabetes insipidus PMID:10085151|PMID:10369876|PMID:10487710|PMID:11017955|PMID:11443218|PMID:12107248|PMID:14660745|PMID:14673472|PMID:15070970|PMID:1740104|PMID:1840604|PMID:25741868|PMID:28492532|PMID:31238300|PMID:3390991|PMID:6132221|PMID:7714110|PMID:8370681|PMID:8370682|PMID:8514868|PMID:8626836|PMID:8945633|PMID:9360520|PMID:9467595|PMID:9580132|PMID:9814475 11715184 AVP arginine vasopressin gene DOID:12849 autistic disorder ISO RGD:68968 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:8570775 11715184 AVP arginine vasopressin gene DOID:2468 psychotic disorder ISO RGD:68968 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:3567260 11715184 AVP arginine vasopressin gene DOID:3021 acute kidney failure ISO RGD:68968 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:2139164 11715184 AVP arginine vasopressin gene DOID:326 ischemia ISO RGD:68968 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:10440088|PMID:2139164 11715184 AVP arginine vasopressin gene DOID:3328 temporal lobe epilepsy ISO RGD:2184 D RGD:9068941 20200611 RGD PMID:12438923|REF_RGD_ID:1579871 11715184 AVP arginine vasopressin gene DOID:3401 inappropriate ADH syndrome ISO RGD:68968 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:112579|PMID:6920297 11715184 AVP arginine vasopressin gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:68968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11715184 AVP arginine vasopressin gene DOID:4195 hyperglycemia ISO RGD:2184 D RGD:9068941 20200611 RGD PMID:16497839|REF_RGD_ID:1601303 11715184 AVP arginine vasopressin gene DOID:5409 lung small cell carcinoma ISO RGD:68968 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:2832203 11715184 AVP arginine vasopressin gene DOID:5419 schizophrenia ISO RGD:68968 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:3567260 11715184 AVP arginine vasopressin gene DOID:6000 congestive heart failure ISO RGD:68968 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:18179782 11715184 AVP arginine vasopressin gene DOID:630 genetic disease ISO RGD:68968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19129716|PMID:28492532 11715184 AVP arginine vasopressin gene DOID:8725 vascular dementia ISO RGD:2184 D RGD:9068941 20200611 RGD protein:decreased expression:brain PMID:18925713|REF_RGD_ID:2303174 11715184 AVP arginine vasopressin gene DOID:9000064 Cardiac Arrhythmias ISO RGD:68968 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:6983645 11715184 AVP arginine vasopressin gene DOID:9000483 Angina Pectoris ISO RGD:68968 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:11128043|PMID:11791009 11715184 AVP arginine vasopressin gene DOID:9000641 Pain ISO RGD:68968 D RGD:9068941 20200611 CTD CTD Direct Evidence: therapeutic PMID:2271928|PMID:6094376 11715184 AVP arginine vasopressin gene DOID:9001189 Drug Overdose ISO RGD:68968 D RGD:9068941 20200611 CTD CTD Direct Evidence: therapeutic PMID:11914425 11715184 AVP arginine vasopressin gene DOID:9002211 Hyperalgesia ISO RGD:68968 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:9613798 11715184 AVP arginine vasopressin gene DOID:9002322 Shy-Drager Syndrome ISO RGD:68968 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:6850280 11715184 AVP arginine vasopressin gene DOID:9002549 Shock ISO RGD:68968 D RGD:9068941 20200611 CTD CTD Direct Evidence: therapeutic PMID:10570779 11715184 AVP arginine vasopressin gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:68968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 11715184 AVP arginine vasopressin gene DOID:9005274 Polyuria ISO RGD:2184 D RGD:9068941 20201211 RGD PMID:10919858|REF_RGD_ID:2314654 11715184 AVP arginine vasopressin gene DOID:9005274 Polyuria ISO RGD:68968 D RGD:9068941 20200611 CTD CTD Direct Evidence: therapeutic PMID:11012637 11715184 AVP arginine vasopressin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10220 D RGD:9068941 20200611 RGD mRNA:increased expression:hypothalamus PMID:18420743|REF_RGD_ID:2301919 11715184 AVP arginine vasopressin gene DOID:9006024 Hypotension ISO RGD:68968 D RGD:9068941 20200611 CTD CTD Direct Evidence: therapeutic PMID:11171655|PMID:12019395|PMID:17357383|PMID:2485266|PMID:3544871 11715184 AVP arginine vasopressin gene DOID:9006635 Hyponatremia ISO RGD:68968 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:6920297 11715184 AVP arginine vasopressin gene DOID:9006635 Hyponatremia ISO RGD:68968 D RGD:9068941 20200611 RGD PMID:12590641|REF_RGD_ID:1579880 11715184 AVP arginine vasopressin gene DOID:9007096 Stroke ISO RGD:68968 D RGD:9068941 20200611 RGD protein:decreased expression:plasma PMID:15897635|REF_RGD_ID:1601304 11715184 AVP arginine vasopressin gene DOID:9007956 Febrile Seizures ISO RGD:2184 D RGD:9068941 20200611 RGD PMID:12438923|REF_RGD_ID:1579871 11715184 AVP arginine vasopressin gene DOID:9007993 Dehydration ISO RGD:2184 D RGD:9068941 20200611 RGD mRNA:increased expression:paraventricular hypothalamic nucleus, supraoptic nucleus PMID:17393298|REF_RGD_ID:2304139 11715184 AVP arginine vasopressin gene DOID:9007993 Dehydration ISO RGD:68968 D RGD:9068941 20200611 CTD CTD Direct Evidence: therapeutic PMID:2554359 11715184 AVP arginine vasopressin gene DOID:9008023 Memory Disorders ISO RGD:68968 D RGD:9068941 20200611 CTD CTD Direct Evidence: therapeutic PMID:11553362 11715184 AVP arginine vasopressin gene DOID:9008644 Dysmenorrhea ISO RGD:68968 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:10440088 11715184 AVP arginine vasopressin gene DOID:9008975 Gastrointestinal Hemorrhage ISO RGD:68968 D RGD:9068941 20200611 CTD CTD Direct Evidence: therapeutic PMID:6983645 11715184 AVP arginine vasopressin gene DOID:9352 type 2 diabetes mellitus ISO RGD:2184 D RGD:9068941 20200611 RGD protein:increased expression:hypothalamus PMID:17940875|REF_RGD_ID:2301922 11715184 AVP arginine vasopressin gene DOID:9409 diabetes insipidus ISO RGD:68968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes insipidus PMID:25741868|PMID:28008190 11715184 AVP arginine vasopressin gene DOID:9409 diabetes insipidus treatment ISO RGD:2184 D RGD:9068941 20210917 RGD PMID:9396613|REF_RGD_ID:150429657 11715184 AVP arginine vasopressin gene DOID:9744 type 1 diabetes mellitus ISO RGD:2184 D RGD:9068941 20210226 RGD PMID:13995944|PMID:5692127|REF_RGD_ID:2314661|REF_RGD_ID:632128 11715196 GOLGB1 golgin B1 gene DOID:12712 nephronophthisis ISO RGD:1351894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15723066|PMID:20881296|PMID:28492532 11715196 GOLGB1 golgin B1 gene DOID:2256 osteochondrodysplasia ISO RGD:708429 D RGD:9068941 20210122 RGD DNA:frameshift mutation:exon 13: (rat) PMID:21851869|REF_RGD_ID:40902994 11715196 GOLGB1 golgin B1 gene DOID:630 genetic disease ISO RGD:1351894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11715196 GOLGB1 golgin B1 gene DOID:674 cleft palate ISO RGD:1557666 D RGD:9068941 20220825 MouseDO 11715196 GOLGB1 golgin B1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1351894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 11715196 GOLGB1 golgin B1 gene DOID:9270 alkaptonuria ISO RGD:1351894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11715240 CNTN2 contactin 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:734311 D RGD:7240710 20180130 OMIM 11715240 CNTN2 contactin 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:734311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:11178983|PMID:16199547|PMID:17576681|PMID:23518707|PMID:25741868|PMID:28492532|PMID:9536098 11715240 CNTN2 contactin 2 gene DOID:12849 autistic disorder ISO RGD:734311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11715240 CNTN2 contactin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:734311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11715240 CNTN2 contactin 2 gene DOID:1826 epilepsy ISO RGD:734311 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11715240 CNTN2 contactin 2 gene DOID:3070 high grade glioma severity ISO RGD:734311 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain (human) PMID:11280781|REF_RGD_ID:734799 11715240 CNTN2 contactin 2 gene DOID:5602 T-cell adult acute lymphocytic leukemia ISO RGD:11392 D RGD:9068941 20220825 MouseDO 11715240 CNTN2 contactin 2 gene DOID:630 genetic disease ISO RGD:734311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11715240 CNTN2 contactin 2 gene DOID:850 lung disease ISO RGD:734311 D RGD:9068941 20200806 RGD associated with HTLV-I Infections;mRNA:increased expression:bronchoalveolar lavage: PMID:24292748|REF_RGD_ID:36947872 11715240 CNTN2 contactin 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:734311 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11715240 CNTN2 contactin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11715267 SLC18B1 solute carrier family 18 member B1 gene DOID:630 genetic disease ISO RGD:1315874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11715296 ANGPTL3 angiopoietin like 3 gene DOID:0080415 developmental and epileptic encephalopathy 23 ISO RGD:1346260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 PMID:24814191|PMID:28492532 11715296 ANGPTL3 angiopoietin like 3 gene DOID:0111061 familial hypobetalipoproteinemia 2 ISO RGD:1346260 D RGD:7240710 20180130 OMIM 11715296 ANGPTL3 angiopoietin like 3 gene DOID:0111061 familial hypobetalipoproteinemia 2 ISO RGD:1346260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2 PMID:19075393|PMID:20942659|PMID:22062970|PMID:22247256|PMID:28492532|PMID:32041611 11715296 ANGPTL3 angiopoietin like 3 gene DOID:1059 intellectual disability ISO RGD:1346260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11715296 ANGPTL3 angiopoietin like 3 gene DOID:630 genetic disease ISO RGD:1346260 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:32041611 11715296 ANGPTL3 angiopoietin like 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11715296 ANGPTL3 angiopoietin like 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1557682 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:15094378|REF_RGD_ID:2314234 11715296 ANGPTL3 angiopoietin like 3 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1557682 D RGD:9068941 20200609 RGD PMID:12672813|REF_RGD_ID:1578347 11715296 ANGPTL3 angiopoietin like 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1557682 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:15094378|REF_RGD_ID:2314234 11715307 TFAP2A transcription factor AP-2 alpha gene DOID:0050567 orofacial cleft ISO RGD:1321068 D RGD:9068941 20220825 MouseDO OMIM:119530 | OMIM:600625 | OMIM:600757 | OMIM:602966 | OMIM:608371 | OMIM:608864 | OMIM:608874 | OMIM:610361 | OMIM:612858 | OMIM:613705 | OMIM:613857 | OMIM:615892 11715307 TFAP2A transcription factor AP-2 alpha gene DOID:0050691 branchiooculofacial syndrome ISO RGD:1321067 D RGD:7240710 20180725 OMIM 11715307 TFAP2A transcription factor AP-2 alpha gene DOID:0050691 branchiooculofacial syndrome ISO RGD:1321067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Branchio-Oculo-Facial Syndrome | ClinVar Annotator: match by term: Branchiooculofacial syndrome PMID:10767004|PMID:18423521|PMID:19685247|PMID:19764023|PMID:20358615|PMID:20461149|PMID:21204207|PMID:21539471|PMID:21728810|PMID:22276601|PMID:22963965|PMID:23578821|PMID:25325184|PMID:25590586|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31829210|PMID:7747785 11715307 TFAP2A transcription factor AP-2 alpha gene DOID:0110242 cataract 13 with adult i phenotype ISO RGD:1321067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 13 with adult I phenotype PMID:28492532 11715307 TFAP2A transcription factor AP-2 alpha gene DOID:10376 amblyopia ISO RGD:1321067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amblyopia PMID:25741868 11715307 TFAP2A transcription factor AP-2 alpha gene DOID:10629 microphthalmia ISO RGD:1321067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmos PMID:25741868 11715307 TFAP2A transcription factor AP-2 alpha gene DOID:11364 lens subluxation ISO RGD:1321067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lens subluxation PMID:25741868 11715307 TFAP2A transcription factor AP-2 alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:1321067 D RGD:9068941 20200609 RGD protein:increased expression:myocardium PMID:14752511|REF_RGD_ID:1578494 11715307 TFAP2A transcription factor AP-2 alpha gene DOID:14702 branchiootorenal syndrome ISO RGD:1321067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melnick-Fraser syndrome PMID:30311386 11715307 TFAP2A transcription factor AP-2 alpha gene DOID:557 kidney disease ISO RGD:1321067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19685247 11715307 TFAP2A transcription factor AP-2 alpha gene DOID:630 genetic disease ISO RGD:1321067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19764023|PMID:20358615|PMID:20461149|PMID:21204207|PMID:22191992|PMID:22276601|PMID:22963965|PMID:23578821|PMID:25325184|PMID:25590586|PMID:25741868|PMID:27607113|PMID:28492532|PMID:31829210|PMID:7747785 11715307 TFAP2A transcription factor AP-2 alpha gene DOID:9001575 IRIS COLOBOMA ISO RGD:1321067 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Iris coloboma PMID:25741868 11715307 TFAP2A transcription factor AP-2 alpha gene DOID:9003133 Hypertelorism ISO RGD:1321067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 11715307 TFAP2A transcription factor AP-2 alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 11715307 TFAP2A transcription factor AP-2 alpha gene DOID:9008296 Eye Abnormalities ISO RGD:1321067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19685247 11715307 TFAP2A transcription factor AP-2 alpha gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1321067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14534133|PMID:19685247 11715307 TFAP2A transcription factor AP-2 alpha gene DOID:9008939 Breast Neoplasms ISO RGD:1321067 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16204029 11715307 TFAP2A transcription factor AP-2 alpha gene DOID:9650 pathologic nystagmus ISO RGD:1321067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:25741868 11715307 TFAP2A transcription factor AP-2 alpha gene DOID:9840 esotropia ISO RGD:1321067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esotropia PMID:25741868 11715325 CPA2 carboxypeptidase A2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11715325 CPA2 carboxypeptidase A2 gene DOID:630 genetic disease ISO RGD:1313664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11715325 CPA2 carboxypeptidase A2 gene DOID:9002669 Hypoxia ISO RGD:1313664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 11715340 RNF113B ring finger protein 113B gene DOID:0110878 holoprosencephaly 5 ISO RGD:1352774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 11715340 RNF113B ring finger protein 113B gene DOID:630 genetic disease ISO RGD:1352774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11715340 RNF113B ring finger protein 113B gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1352774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11715346 PABIR2 PABIR family member 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11715346 PABIR2 PABIR family member 2 gene DOID:12849 autistic disorder ISO RGD:1605855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11715388 SLC2A4 solute carrier family 2 member 4 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:731478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11715388 SLC2A4 solute carrier family 2 member 4 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:731478 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11715388 SLC2A4 solute carrier family 2 member 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:731478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:1397719|PMID:1918382|PMID:7814014 11715388 SLC2A4 solute carrier family 2 member 4 gene DOID:1059 intellectual disability ISO RGD:731478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11715388 SLC2A4 solute carrier family 2 member 4 gene DOID:10652 Alzheimer's disease ISO RGD:731478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24055495 11715388 SLC2A4 solute carrier family 2 member 4 gene DOID:12177 common variable immunodeficiency ISO RGD:731478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11715388 SLC2A4 solute carrier family 2 member 4 gene DOID:2729 dyskeratosis congenita ISO RGD:731478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11715388 SLC2A4 solute carrier family 2 member 4 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:731478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11715388 SLC2A4 solute carrier family 2 member 4 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:731478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 11715388 SLC2A4 solute carrier family 2 member 4 gene DOID:6000 congestive heart failure severity ISO RGD:731478 D RGD:9068941 20200609 RGD protein:decreased expression:skeletal muscle PMID:18778861|REF_RGD_ID:2313624 11715388 SLC2A4 solute carrier family 2 member 4 gene DOID:630 genetic disease ISO RGD:731478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11715388 SLC2A4 solute carrier family 2 member 4 gene DOID:6432 pulmonary hypertension ISO RGD:2711 D RGD:9068941 20200609 RGD PMID:19043358|REF_RGD_ID:2313622 11715388 SLC2A4 solute carrier family 2 member 4 gene DOID:9003936 Cardiomegaly ISO RGD:731478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22221582 11715388 SLC2A4 solute carrier family 2 member 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2711 D RGD:9068941 20200609 RGD PMID:19252289|REF_RGD_ID:2313621 11715388 SLC2A4 solute carrier family 2 member 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11947963|PMID:14563825|PMID:18266981|PMID:22138235 11715388 SLC2A4 solute carrier family 2 member 4 gene DOID:9007692 Insulin Resistance ISO RGD:731478 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11947963 11715388 SLC2A4 solute carrier family 2 member 4 gene DOID:9007692 Insulin Resistance ISO RGD:731478 D RGD:9068941 20200609 RGD associated with Heart Failure, Congestive;protein:decreased expression:skeletal muscle PMID:18778861|REF_RGD_ID:2313624 11715388 SLC2A4 solute carrier family 2 member 4 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2711 D RGD:9068941 20200609 RGD PMID:10336852|REF_RGD_ID:12879857 11715388 SLC2A4 solute carrier family 2 member 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:1397719|PMID:1918382|PMID:7814014 11715406 NBN nibrin gene DOID:0014667 disease of metabolism ISO RGD:1348611 D RGD:9068941 20200609 RGD Nijmegen breakage syndrome, OMIM:251260, DNA:deletion:exon:nt657del5 PMID:9590180|REF_RGD_ID:1600219 11715406 NBN nibrin gene DOID:0050453 lissencephaly ISO RGD:1348611 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:10398434|PMID:10799436|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11953735|PMID:12123493|PMID:12505263|PMID:12833396|PMID:12845677|PMID:14973119|PMID:15185344|PMID:15279809|PMID:16033915|PMID:16544999|PMID:17103455|PMID:18606567|PMID:18940477|PMID:19635536|PMID:19908051|PMID:20444919|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:24033266|PMID:24113799|PMID:25485873|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26467025|PMID:26822949|PMID:26845104|PMID:27150568|PMID:27616075|PMID:28492532|PMID:28873162|PMID:29368341|PMID:29419426|PMID:30426508|PMID:31173646|PMID:32295079|PMID:33050356|PMID:33471974|PMID:33471991|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 11715406 NBN nibrin gene DOID:0080600 COVID-19 ISO RGD:1348611 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11715406 NBN nibrin gene DOID:10283 prostate cancer ISO RGD:1348611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:23555315|PMID:25741868|PMID:26467025|PMID:26976419|PMID:27148588|PMID:27443514|PMID:28492532|PMID:29522266|PMID:30287823 11715406 NBN nibrin gene DOID:10283 prostate cancer susceptibility ISO RGD:1348611 D RGD:9068941 20200609 RGD DNA:deletion, loss of heterozygosity PMID:14973119|REF_RGD_ID:2298995 11715406 NBN nibrin gene DOID:10534 stomach cancer ISO RGD:1348611 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:11279524|PMID:12433983|PMID:12708449|PMID:15048089|PMID:15758953|PMID:15964794|PMID:16199547|PMID:16415040|PMID:19105185|PMID:21035407|PMID:24033266|PMID:24763289|PMID:24894818|PMID:25741868|PMID:26689913|PMID:26786923|PMID:26976419|PMID:28492532|PMID:29625052|PMID:30287823|PMID:31214711|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32963463|PMID:33471991|PMID:36988593|PMID:9590180 11715406 NBN nibrin gene DOID:10652 Alzheimer's disease ISO RGD:1348611 D RGD:9068941 20200609 RGD PMID:15337312|REF_RGD_ID:2317734 11715406 NBN nibrin gene DOID:12449 aplastic anemia ISO RGD:1348611 D RGD:7240710 20180130 OMIM 11715406 NBN nibrin gene DOID:12449 aplastic anemia ISO RGD:1348611 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aplastic anemia PMID:11325820|PMID:14559852|PMID:15338273|PMID:16474176|PMID:16810201|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18049891|PMID:18280732|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19813148|PMID:19908051|PMID:21212067|PMID:21698754|PMID:22131123|PMID:22373003|PMID:23317186|PMID:23555315|PMID:24093751|PMID:24113799|PMID:24728327|PMID:24830725|PMID:25619955|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26722329|PMID:26976419|PMID:27109316|PMID:27153395|PMID:27443514|PMID:27616075|PMID:27621404|PMID:28076423|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28591191|PMID:28726808|PMID:29335925|PMID:29522266|PMID:29596542|PMID:29678143|PMID:29785153|PMID:30256826|PMID:30287823|PMID:30441849|PMID:30590007|PMID:30651582|PMID:31159747|PMID:31206626|PMID:31278556|PMID:31422574|PMID:32566746|PMID:33471991 11715406 NBN nibrin gene DOID:1520 colon carcinoma ISO RGD:1348611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:11325820|PMID:14559852|PMID:15338273|PMID:16474176|PMID:16810201|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18049891|PMID:18280732|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19813148|PMID:19908051|PMID:21212067|PMID:21698754|PMID:22131123|PMID:22373003|PMID:23317186|PMID:23555315|PMID:24093751|PMID:24113799|PMID:24728327|PMID:24830725|PMID:25619955|PMID:25712764|PMID:25741868|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26722329|PMID:27153395|PMID:27616075|PMID:27621404|PMID:28076423|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28591191|PMID:29335925|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30441849|PMID:30590007|PMID:30651582|PMID:31159747|PMID:32566746 11715406 NBN nibrin gene DOID:1612 breast cancer ISO RGD:1348611 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10398434|PMID:10799436|PMID:10839544|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12505263|PMID:12833396|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15185344|PMID:15474156|PMID:16033915|PMID:16415040|PMID:16544999|PMID:16770759|PMID:16810201|PMID:17103455|PMID:17496786|PMID:18003706|PMID:18606567|PMID:18940477|PMID:19452044|PMID:19584272|PMID:19635536|PMID:19804756|PMID:19908051|PMID:20444919|PMID:20805886|PMID:21302341|PMID:21664921|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:23525077|PMID:23555315|PMID:24033266|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24728327|PMID:24894818|PMID:25186627|PMID:25318351|PMID:25637381|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27150568|PMID:27443514|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28374160|PMID:28492532|PMID:28528518|PMID:28717660|PMID:28726808|PMID:28873162|PMID:29300386|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29522266|PMID:29596542|PMID:29758565|PMID:29929473|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30942098|PMID:31159747|PMID:31206626|PMID:31278556|PMID:31422574|PMID:31780696|PMID:31874108|PMID:32295079|PMID:32566746|PMID:32668560|PMID:33095795|PMID:33471991|PMID:9590180|PMID:9620777 11715406 NBN nibrin gene DOID:1612 breast cancer ISO RGD:1348611 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10398434|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12505263|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15185344|PMID:15279809|PMID:15474156|PMID:16033915|PMID:16415040|PMID:16544999|PMID:16770759|PMID:16810201|PMID:17103455|PMID:17496786|PMID:18003706|PMID:18606567|PMID:18940477|PMID:19452044|PMID:19584272|PMID:19635536|PMID:19804756|PMID:19908051|PMID:20444919|PMID:20805886|PMID:21302341|PMID:21664921|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:23525077|PMID:23555315|PMID:24033266|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24728327|PMID:24894818|PMID:25186627|PMID:25318351|PMID:25485873|PMID:25637381|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27150568|PMID:27443514|PMID:27616075|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28374160|PMID:28492532|PMID:28528518|PMID:28717660|PMID:28726808|PMID:28873162|PMID:29300386|PMID:29368341|PMID:29371908|PMID:29419426|PMID:29458332|PMID:29522266|PMID:29596542|PMID:29758565|PMID:29929473|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30942098|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31278556|PMID:31422574|PMID:31780696|PMID:31874108|PMID:32295079|PMID:32566746|PMID:32668560|PMID:33050356|PMID:33095795|PMID:33471974|PMID:33471991|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 11715406 NBN nibrin gene DOID:1612 breast cancer ISO RGD:1348611 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10398434|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12505263|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15185344|PMID:15279809|PMID:15474156|PMID:16033915|PMID:16415040|PMID:16544999|PMID:16770759|PMID:16810201|PMID:17103455|PMID:17496786|PMID:18003706|PMID:18606567|PMID:18940477|PMID:19452044|PMID:19584272|PMID:19635536|PMID:19804756|PMID:19908051|PMID:20444919|PMID:20805886|PMID:21302341|PMID:21664921|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:23525077|PMID:23555315|PMID:24033266|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24728327|PMID:24894818|PMID:25186627|PMID:25318351|PMID:25485873|PMID:25637381|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27150568|PMID:27443514|PMID:27616075|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28374160|PMID:28492532|PMID:28528518|PMID:28717660|PMID:28726808|PMID:28873162|PMID:29300386|PMID:29368341|PMID:29371908|PMID:29419426|PMID:29458332|PMID:29522266|PMID:29596542|PMID:29758565|PMID:29929473|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30942098|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31278556|PMID:31422574|PMID:31780696|PMID:31874108|PMID:32295079|PMID:32566746|PMID:32668560|PMID:33050356|PMID:33095795|PMID:33471974|PMID:33471991|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:34646395|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 11715406 NBN nibrin gene DOID:1612 breast cancer ISO RGD:1348611 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10398434|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12505263|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15185344|PMID:15279809|PMID:15474156|PMID:16033915|PMID:16415040|PMID:16544999|PMID:16770759|PMID:16810201|PMID:17103455|PMID:17496786|PMID:18003706|PMID:18606567|PMID:18940477|PMID:19452044|PMID:19584272|PMID:19635536|PMID:19804756|PMID:19908051|PMID:20444919|PMID:20805886|PMID:21302341|PMID:21664921|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:23525077|PMID:23555315|PMID:24033266|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24728327|PMID:24894818|PMID:25186627|PMID:25318351|PMID:25485873|PMID:25637381|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27150568|PMID:27443514|PMID:27616075|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28374160|PMID:28492532|PMID:28528518|PMID:28717660|PMID:28726808|PMID:28873162|PMID:29300386|PMID:29368341|PMID:29371908|PMID:29419426|PMID:29458332|PMID:29522266|PMID:29596542|PMID:29758565|PMID:29929473|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30942098|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31278556|PMID:31422574|PMID:31780696|PMID:31874108|PMID:32295079|PMID:32566746|PMID:32668560|PMID:32885271|PMID:33050356|PMID:33095795|PMID:33471974|PMID:33471991|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:34646395|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 11715406 NBN nibrin gene DOID:1612 breast cancer disease_progression ISO RGD:1348611 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:17337132|REF_RGD_ID:2298993 11715406 NBN nibrin gene DOID:1612 breast cancer susceptibility ISO RGD:1348611 D RGD:9068941 20200609 RGD DNA:SNP PMID:17932350|REF_RGD_ID:2298991 11715406 NBN nibrin gene DOID:1612 breast cancer susceptibility ISO RGD:1348611 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.I171V PMID:17899368|REF_RGD_ID:2298992 11715406 NBN nibrin gene DOID:1993 rectum cancer susceptibility ISO RGD:1348611 D RGD:9068941 20220303 RGD DNA:SNP:3'utr: (rs14448) (human) PMID:26735576|REF_RGD_ID:151361212 11715406 NBN nibrin gene DOID:2394 ovarian cancer ISO RGD:1348611 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:24349281|PMID:25741868|PMID:26467025|PMID:28135145|PMID:28492532|PMID:30982232|PMID:32885271|PMID:33471991 11715406 NBN nibrin gene DOID:3459 breast carcinoma ISO RGD:1348611 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:10398434|PMID:10799436|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12505263|PMID:12833396|PMID:12845677|PMID:14559852|PMID:14973119|PMID:15185344|PMID:15279809|PMID:15338273|PMID:16033915|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16810201|PMID:17103455|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18049891|PMID:18280732|PMID:18606567|PMID:18940477|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19635536|PMID:19813148|PMID:19908051|PMID:20444919|PMID:21212067|PMID:21698754|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:23555315|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24728327|PMID:24830725|PMID:25485873|PMID:25619955|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26722329|PMID:26822949|PMID:26845104|PMID:27150568|PMID:27153395|PMID:27616075|PMID:27621404|PMID:28076423|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28591191|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29419426|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30426508|PMID:30441849|PMID:30590007|PMID:30651582|PMID:30980208|PMID:31159747|PMID:31173646|PMID:32295079|PMID:32566746|PMID:32658311|PMID:33050356|PMID:33471974|PMID:33471991|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 11715406 NBN nibrin gene DOID:4001 ovarian carcinoma ISO RGD:1348611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:16415040|PMID:28492532|PMID:9590180 11715406 NBN nibrin gene DOID:4905 pancreatic carcinoma ISO RGD:1348611 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:10398434|PMID:10799436|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11953735|PMID:12123493|PMID:12505263|PMID:12833396|PMID:12845677|PMID:14973119|PMID:15185344|PMID:15279809|PMID:16033915|PMID:16544999|PMID:17103455|PMID:18606567|PMID:18940477|PMID:19635536|PMID:19908051|PMID:20444919|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:24033266|PMID:24113799|PMID:25485873|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26467025|PMID:26822949|PMID:26845104|PMID:27150568|PMID:27616075|PMID:28492532|PMID:28873162|PMID:29368341|PMID:29419426|PMID:30426508|PMID:31173646|PMID:32295079|PMID:33050356|PMID:33471974|PMID:33471991|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 11715406 NBN nibrin gene DOID:5426 primary ovarian insufficiency ISO RGD:1348611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:16415040|PMID:28492532|PMID:29706645|PMID:9590180 11715406 NBN nibrin gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:732723 D RGD:9068941 20220825 MouseDO 11715406 NBN nibrin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:10398434|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12505263|PMID:12833396|PMID:14559852|PMID:14973119|PMID:15185344|PMID:15338273|PMID:16033915|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16810201|PMID:17103455|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18049891|PMID:18280732|PMID:18606567|PMID:18940477|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19635536|PMID:19813148|PMID:19908051|PMID:20444919|PMID:21212067|PMID:21698754|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22941933|PMID:23317186|PMID:23555315|PMID:23765759|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24549055|PMID:24728327|PMID:24830725|PMID:25186627|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26722329|PMID:26822949|PMID:26845104|PMID:27150568|PMID:27153395|PMID:27616075|PMID:27621404|PMID:28076423|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28591191|PMID:28873162|PMID:29335925|PMID:29522266|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30441849|PMID:30590007|PMID:30651582|PMID:30942098|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31666926|PMID:32068069|PMID:32295079|PMID:32566746|PMID:33309985|PMID:33800431|PMID:9536098|PMID:9590180|PMID:9620777 11715406 NBN nibrin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348611 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10398434|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12505263|PMID:12833396|PMID:14559852|PMID:14973119|PMID:15185344|PMID:15338273|PMID:16033915|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16810201|PMID:17001621|PMID:17103455|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18023021|PMID:18049891|PMID:18280732|PMID:18281469|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19635536|PMID:19813148|PMID:19908051|PMID:20444919|PMID:21212067|PMID:21302341|PMID:21698754|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23317186|PMID:23555315|PMID:23765759|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24549055|PMID:24728327|PMID:24830725|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26722329|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27150568|PMID:27153395|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29522266|PMID:29625052|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30651582|PMID:30942098|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31415627|PMID:31666926|PMID:32068069|PMID:32295079|PMID:32566746|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33800431|PMID:9536098|PMID:9590180|PMID:9620777 11715406 NBN nibrin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348611 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10398434|PMID:10799436|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12505263|PMID:12833396|PMID:14559852|PMID:14973119|PMID:15185344|PMID:15338273|PMID:16033915|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16810201|PMID:17001621|PMID:17103455|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18023021|PMID:18049891|PMID:18280732|PMID:18281469|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19635536|PMID:19813148|PMID:19908051|PMID:20444919|PMID:21212067|PMID:21302341|PMID:21698754|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23317186|PMID:23555315|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24549055|PMID:24728327|PMID:24830725|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25503501|PMID:25619955|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26722329|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27150568|PMID:27153395|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29522266|PMID:29625052|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30651582|PMID:30942098|PMID:30982232|PMID:31159747|PMID:31415627|PMID:31666926|PMID:32068069|PMID:32295079|PMID:32566746|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33800431|PMID:34072463|PMID:9536098|PMID:9590180|PMID:9620777 11715406 NBN nibrin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10398434|PMID:10799436|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12505263|PMID:12833396|PMID:12845677|PMID:14559852|PMID:14973119|PMID:15185344|PMID:15279809|PMID:15338273|PMID:16033915|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16810201|PMID:17001621|PMID:17103455|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18023021|PMID:18049891|PMID:18280732|PMID:18281469|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19635536|PMID:19813148|PMID:19908051|PMID:20444919|PMID:21212067|PMID:21302341|PMID:21698754|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23317186|PMID:23555315|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24549055|PMID:24728327|PMID:24830725|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25326637|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26722329|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27150568|PMID:27153395|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29419426|PMID:29522266|PMID:29625052|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30306255|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30651582|PMID:30942098|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31415627|PMID:31666926|PMID:32068069|PMID:32295079|PMID:32566746|PMID:32906206|PMID:32980694|PMID:33050356|PMID:33309985|PMID:33471974|PMID:33471991|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:35309086|PMID:9536098|PMID:9590180|PMID:9590181|PMID:9620777 11715406 NBN nibrin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348611 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10398434|PMID:10799436|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12505263|PMID:12833396|PMID:12845677|PMID:14559852|PMID:14973119|PMID:15185344|PMID:15279809|PMID:15338273|PMID:16033915|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16810201|PMID:17001621|PMID:17103455|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18023021|PMID:18049891|PMID:18280732|PMID:18281469|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19635536|PMID:19813148|PMID:19908051|PMID:20444919|PMID:21212067|PMID:21302341|PMID:21698754|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23317186|PMID:23555315|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24549055|PMID:24728327|PMID:24830725|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26722329|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27150568|PMID:27153395|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29419426|PMID:29522266|PMID:29625052|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30306255|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30651582|PMID:30942098|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31415627|PMID:31666926|PMID:32068069|PMID:32295079|PMID:32566746|PMID:32906206|PMID:32980694|PMID:33050356|PMID:33309985|PMID:33471974|PMID:33471991|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:35309086|PMID:9536098|PMID:9590180|PMID:9590181|PMID:9620777 11715406 NBN nibrin gene DOID:630 genetic disease ISO RGD:1348611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11715406 NBN nibrin gene DOID:684 hepatocellular carcinoma ISO RGD:1348611 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:10398434|PMID:10799436|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11953735|PMID:12123493|PMID:12505263|PMID:12833396|PMID:12845677|PMID:14973119|PMID:15185344|PMID:15279809|PMID:16033915|PMID:16544999|PMID:17103455|PMID:18606567|PMID:18940477|PMID:19635536|PMID:19908051|PMID:20444919|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:24033266|PMID:24113799|PMID:25485873|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26467025|PMID:26822949|PMID:26845104|PMID:27150568|PMID:27616075|PMID:28492532|PMID:28873162|PMID:29368341|PMID:29419426|PMID:30426508|PMID:31173646|PMID:32295079|PMID:33050356|PMID:33471974|PMID:33471991|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 11715406 NBN nibrin gene DOID:7400 Nijmegen breakage syndrome ISO RGD:1348611 D RGD:7240710 20180130 OMIM 11715406 NBN nibrin gene DOID:7400 Nijmegen breakage syndrome ISO RGD:1348611 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency PMID:10398434|PMID:10792024|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11062235|PMID:11093281|PMID:11279524|PMID:11288710|PMID:11325820|PMID:11952644|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12419185|PMID:12427538|PMID:12433983|PMID:12447395|PMID:12505263|PMID:12621246|PMID:12679336|PMID:12708449|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15048089|PMID:15185344|PMID:15279770|PMID:15279809|PMID:15338273|PMID:15451479|PMID:15474156|PMID:15593232|PMID:15758953|PMID:15964794|PMID:16033915|PMID:16152606|PMID:16188882|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16702373|PMID:16770759|PMID:16810201|PMID:16998789|PMID:17001621|PMID:17103455|PMID:17384674|PMID:17496786|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:17957789|PMID:18003706|PMID:18023021|PMID:18049891|PMID:18056440|PMID:18073374|PMID:18280732|PMID:18281469|PMID:18328813|PMID:18566737|PMID:18575580|PMID:18593981|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19105185|PMID:19151620|PMID:19393249|PMID:19409520|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19629396|PMID:19635536|PMID:19763152|PMID:19804755|PMID:19804756|PMID:19813148|PMID:19908051|PMID:20307669|PMID:20444919|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21212067|PMID:21302341|PMID:21520333|PMID:21664921|PMID:21698754|PMID:22006311|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22406018|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23149842|PMID:23265383|PMID:23317186|PMID:23458873|PMID:23525077|PMID:23555315|PMID:23720301|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24556621|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24830725|PMID:24894818|PMID:24928521|PMID:25117502|PMID:25186627|PMID:25239263|PMID:25318351|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25637381|PMID:25640679|PMID:25677497|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26092435|PMID:2625251|PMID:26265251|PMID:26270727|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26722329|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26929905|PMID:26934577|PMID:26976419|PMID:26979391|PMID:27028851|PMID:27060854|PMID:27109316|PMID:27148588|PMID:27149842|PMID:27150568|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27878467|PMID:27978560|PMID:28076423|PMID:28076792|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28261280|PMID:28374160|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28717660|PMID:28726808|PMID:28727877|PMID:28796236|PMID:28801450|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29093764|PMID:29173497|PMID:29300386|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29419426|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29506128|PMID:2952226|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29678143|PMID:29706558|PMID:29706645|PMID:29758565|PMID:29785153|PMID:29915322|PMID:29922827|PMID:29929473|PMID:30256826|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30875412|PMID:30942098|PMID:30952868|PMID:30980208|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31273614|PMID:31278556|PMID:31415627|PMID:31422574|PMID:31512090|PMID:31666926|PMID:31729086|PMID:31742824|PMID:31780696|PMID:31871109|PMID:31874108|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32668560|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32945065|PMID:32959997|PMID:32963463|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33206719|PMID:33309985|PMID:33359728|PMID:33471974|PMID:33471991|PMID:33558524 11715406 NBN nibrin gene DOID:7400 Nijmegen breakage syndrome ISO RGD:1348611 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency PMID:33630411|PMID:33646313|PMID:33652732|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34169133|PMID:34204722|PMID:34350294|PMID:34426522|PMID:34439939|PMID:34544220|PMID:34646395|PMID:35309086|PMID:35467778|PMID:36346689|PMID:36988593|PMID:3802554|PMID:9523210|PMID:9536098|PMID:9590180|PMID:9590181|PMID:9620777 11715406 NBN nibrin gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14973119|PMID:25415046 11715406 NBN nibrin gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1348611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25415046 11715406 NBN nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398434|PMID:10799436|PMID:10839544|PMID:10852373|PMID:11062235|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12433983|PMID:12447395|PMID:12505263|PMID:12621246|PMID:12679336|PMID:12833396|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14973119|PMID:15048089|PMID:15185344|PMID:15338273|PMID:15451479|PMID:15474156|PMID:15593232|PMID:15758953|PMID:15964794|PMID:16033915|PMID:16152606|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16702373|PMID:16770759|PMID:16810201|PMID:16998789|PMID:17001621|PMID:17103455|PMID:17429352|PMID:17496786|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:17957789|PMID:18023021|PMID:18049891|PMID:18056440|PMID:18073374|PMID:18280732|PMID:18281469|PMID:18328813|PMID:18593981|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19393249|PMID:19409520|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19629396|PMID:19635536|PMID:19804755|PMID:19804756|PMID:19813148|PMID:19908051|PMID:20444919|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21212067|PMID:21302341|PMID:21520333|PMID:21664921|PMID:21698754|PMID:22006311|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23149842|PMID:23317186|PMID:23458873|PMID:23525077|PMID:23555315|PMID:23765759|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24556621|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24830725|PMID:24894818|PMID:24928521|PMID:25117502|PMID:25186627|PMID:25239263|PMID:25318351|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25637381|PMID:25677497|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26092435|PMID:2625251|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26722329|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26929905|PMID:26934577|PMID:26976419|PMID:26979391|PMID:27028851|PMID:27060854|PMID:27109316|PMID:27148588|PMID:27149842|PMID:27150568|PMID:27153395|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27878467|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28261280|PMID:28374160|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28717660|PMID:28726808|PMID:28727877|PMID:28796236|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29093764|PMID:29173497|PMID:29300386|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29641532|PMID:29678143|PMID:29706558|PMID:29785153|PMID:29915322|PMID:29922827|PMID:29929473|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30612635|PMID:30651582|PMID:30942098|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31273614|PMID:31278556|PMID:31415627|PMID:31422574|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31780696|PMID:31874108|PMID:32068069|PMID:32295079|PMID:32566746|PMID:32668560|PMID:32832836|PMID:32866190|PMID:32945065|PMID:32980694|PMID:33095795|PMID:33309985|PMID:33471991|PMID:33630411|PMID:33800431|PMID:34072463|PMID:3802554|PMID:9536098|PMID:9590180|PMID:9620777 11715406 NBN nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10398434|PMID:10799436|PMID:10839544|PMID:10852373|PMID:11062235|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11952644|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12433983|PMID:12447395|PMID:12505263|PMID:12621246|PMID:12679336|PMID:12708449|PMID:12833396|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14973119|PMID:15048089|PMID:15185344|PMID:15338273|PMID:15451479|PMID:15474156|PMID:15593232|PMID:15758953|PMID:15964794|PMID:16033915|PMID:16152606|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16702373|PMID:16770759|PMID:16810201|PMID:16998789|PMID:17001621|PMID:17103455|PMID:17496786|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:17957789|PMID:18023021|PMID:18049891|PMID:18056440|PMID:18073374|PMID:18280732|PMID:18281469|PMID:18328813|PMID:18566737|PMID:18593981|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19105185|PMID:19151620|PMID:19393249|PMID:19409520|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19629396|PMID:19635536|PMID:19804755|PMID:19804756|PMID:19813148|PMID:19908051|PMID:20444919|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21212067|PMID:21302341|PMID:21664921|PMID:21698754|PMID:22006311|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23149842|PMID:23317186|PMID:23458873|PMID:23525077|PMID:23555315|PMID:23720301|PMID:23765759|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24556621|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24830725|PMID:24894818|PMID:24928521|PMID:25117502|PMID:25186627|PMID:25239263|PMID:25318351|PMID:25326637|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25637381|PMID:25677497|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26092435|PMID:2625251|PMID:26265251|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26722329|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26929905|PMID:26934577|PMID:26976419|PMID:26979391|PMID:27028851|PMID:27060854|PMID:27109316|PMID:27148588|PMID:27149842|PMID:27150568|PMID:27153395|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27878467|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28261280|PMID:28374160|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28717660|PMID:28726808|PMID:28727877|PMID:28796236|PMID:28873162|PMID:28888541|PMID:29093764|PMID:29173497|PMID:29300386|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29506128|PMID:2952226|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29678143|PMID:29706558|PMID:29785153|PMID:29915322|PMID:29922827|PMID:29929473|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30942098|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31273614|PMID:31278556|PMID:31415627|PMID:31422574|PMID:31512090|PMID:31666926|PMID:31729086|PMID:31742824|PMID:31780696|PMID:31874108|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32668560|PMID:32832836|PMID:32866190|PMID:32906206|PMID:32945065|PMID:32980694|PMID:33095795|PMID:33309985|PMID:33359728|PMID:33471991|PMID:33630411|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34169133|PMID:34204722|PMID:3802554|PMID:9523210|PMID:9536098|PMID:9590180|PMID:9620777 11715406 NBN nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398434|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11062235|PMID:11093281|PMID:11279524|PMID:11288710|PMID:11325820|PMID:11952644|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12433983|PMID:12447395|PMID:12505263|PMID:12621246|PMID:12679336|PMID:12708449|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15048089|PMID:15185344|PMID:15279809|PMID:15338273|PMID:15451479|PMID:15474156|PMID:15593232|PMID:15758953|PMID:15964794|PMID:16033915|PMID:16152606|PMID:16188882|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16702373|PMID:16770759|PMID:16810201|PMID:16998789|PMID:17001621|PMID:17103455|PMID:17496786|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:17957789|PMID:18003706|PMID:18023021|PMID:18049891|PMID:18056440|PMID:18073374|PMID:18280732|PMID:18281469|PMID:18328813|PMID:18566737|PMID:18575580|PMID:18593981|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19105185|PMID:19151620|PMID:19393249|PMID:19409520|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19629396|PMID:19635536|PMID:19804755|PMID:19804756|PMID:19813148|PMID:19908051|PMID:20444919|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21212067|PMID:21302341|PMID:21664921|PMID:21698754|PMID:22006311|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23149842|PMID:23317186|PMID:23458873|PMID:23525077|PMID:23555315|PMID:23720301|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24556621|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24830725|PMID:24894818|PMID:24928521|PMID:25117502|PMID:25186627|PMID:25239263|PMID:25318351|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25637381|PMID:25677497|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26092435|PMID:2625251|PMID:26265251|PMID:26270727|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26722329|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26929905|PMID:26934577|PMID:26976419|PMID:26979391|PMID:27028851|PMID:27060854|PMID:27109316|PMID:27148588|PMID:27149842|PMID:27150568|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27878467|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28261280|PMID:28374160|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28717660|PMID:28726808|PMID:28727877|PMID:28796236|PMID:28801450|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29093764|PMID:29173497|PMID:29300386|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29419426|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29506128|PMID:2952226|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29678143|PMID:29706558|PMID:29758565|PMID:29785153|PMID:29915322|PMID:29922827|PMID:29929473|PMID:30256826|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30942098|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31273614|PMID:31278556|PMID:31415627|PMID:31422574|PMID:31512090|PMID:31666926|PMID:31729086|PMID:31742824|PMID:31780696|PMID:31871109|PMID:31874108|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32668560|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32945065|PMID:32959997|PMID:32963463|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33206719|PMID:33309985|PMID:33359728|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34169133|PMID:34204722|PMID:34350294|PMID:34426522|PMID:34439939|PMID:34544220|PMID:35309086|PMID:35467778|PMID:3802554|PMID:9523210|PMID:9536098|PMID:9590180|PMID:9590181|PMID:9620777 11715406 NBN nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398434|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11062235|PMID:11093281|PMID:11279524|PMID:11288710|PMID:11325820|PMID:11952644|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12433983|PMID:12447395|PMID:12505263|PMID:12621246|PMID:12679336|PMID:12708449|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15048089|PMID:15185344|PMID:15279809|PMID:15338273|PMID:15451479|PMID:15474156|PMID:15593232|PMID:15758953|PMID:15964794|PMID:16033915|PMID:16152606|PMID:16188882|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16702373|PMID:16770759|PMID:16810201|PMID:16998789|PMID:17001621|PMID:17103455|PMID:17496786|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:17957789|PMID:18003706|PMID:18023021|PMID:18049891|PMID:18056440|PMID:18073374|PMID:18280732|PMID:18281469|PMID:18328813|PMID:18566737|PMID:18575580|PMID:18593981|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19105185|PMID:19151620|PMID:19393249|PMID:19409520|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19629396|PMID:19635536|PMID:19804755|PMID:19804756|PMID:19813148|PMID:19908051|PMID:20444919|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21212067|PMID:21302341|PMID:21520333|PMID:21664921|PMID:21698754|PMID:22006311|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23149842|PMID:23317186|PMID:23458873|PMID:23525077|PMID:23555315|PMID:23720301|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24556621|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24830725|PMID:24894818|PMID:24928521|PMID:25117502|PMID:25186627|PMID:25239263|PMID:25318351|PMID:25326637|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25637381|PMID:25677497|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26092435|PMID:2625251|PMID:26265251|PMID:26270727|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26722329|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26929905|PMID:26934577|PMID:26976419|PMID:26979391|PMID:27028851|PMID:27060854|PMID:27109316|PMID:27148588|PMID:27149842|PMID:27150568|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27878467|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28261280|PMID:28374160|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28717660|PMID:28726808|PMID:28727877|PMID:28796236|PMID:28801450|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29093764|PMID:29173497|PMID:29300386|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29419426|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29506128|PMID:2952226|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29678143|PMID:29706558|PMID:29758565|PMID:29785153|PMID:29915322|PMID:29922827|PMID:29929473|PMID:30256826|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30942098|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31273614|PMID:31278556|PMID:31415627|PMID:31422574|PMID:31512090|PMID:31666926|PMID:31729086|PMID:31742824|PMID:31780696|PMID:31871109|PMID:31874108|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32668560|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32945065|PMID:32959997|PMID:32963463|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33206719|PMID:33309985|PMID:33359728|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34169133|PMID:34204722|PMID:34350294|PMID:34426522|PMID:34439939|PMID:34544220|PMID:35309086|PMID:35467778|PMID:3802554|PMID:9523210|PMID:9536098|PMID:9590180 11715406 NBN nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9590181|PMID:9620777 11715406 NBN nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398434|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11062235|PMID:11093281|PMID:11279524|PMID:11288710|PMID:11325820|PMID:11952644|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12433983|PMID:12447395|PMID:12505263|PMID:12621246|PMID:12679336|PMID:12708449|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15048089|PMID:15185344|PMID:15279809|PMID:15338273|PMID:15451479|PMID:15474156|PMID:15593232|PMID:15758953|PMID:15964794|PMID:16033915|PMID:16152606|PMID:16188882|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16702373|PMID:16770759|PMID:16810201|PMID:16998789|PMID:17001621|PMID:17103455|PMID:17496786|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:17957789|PMID:18003706|PMID:18023021|PMID:18049891|PMID:18056440|PMID:18073374|PMID:18280732|PMID:18281469|PMID:18328813|PMID:18566737|PMID:18575580|PMID:18593981|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19105185|PMID:19151620|PMID:19393249|PMID:19409520|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19629396|PMID:19635536|PMID:19804755|PMID:19804756|PMID:19813148|PMID:19908051|PMID:20444919|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21212067|PMID:21302341|PMID:21520333|PMID:21664921|PMID:21698754|PMID:22006311|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23149842|PMID:23317186|PMID:23458873|PMID:23525077|PMID:23555315|PMID:23720301|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24556621|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24830725|PMID:24894818|PMID:24928521|PMID:25117502|PMID:25186627|PMID:25239263|PMID:25318351|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25637381|PMID:25677497|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26092435|PMID:2625251|PMID:26265251|PMID:26270727|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26722329|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26929905|PMID:26934577|PMID:26976419|PMID:26979391|PMID:27028851|PMID:27060854|PMID:27109316|PMID:27148588|PMID:27149842|PMID:27150568|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27878467|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28261280|PMID:28374160|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28717660|PMID:28726808|PMID:28727877|PMID:28796236|PMID:28801450|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29093764|PMID:29173497|PMID:29300386|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29419426|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29506128|PMID:2952226|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29678143|PMID:29706558|PMID:29758565|PMID:29785153|PMID:29915322|PMID:29922827|PMID:29929473|PMID:30256826|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30942098|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31273614|PMID:31278556|PMID:31415627|PMID:31422574|PMID:31512090|PMID:31666926|PMID:31729086|PMID:31742824|PMID:31780696|PMID:31871109|PMID:31874108|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32668560|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32945065|PMID:32959997|PMID:32963463|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33206719|PMID:33309985|PMID:33359728|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34169133|PMID:34204722|PMID:34350294|PMID:34426522|PMID:34439939|PMID:34544220|PMID:34646395|PMID:35309086|PMID:35467778|PMID:3802554|PMID:9523210|PMID:9536098|PMID:9590180 11715406 NBN nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398434|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11062235|PMID:11093281|PMID:11279524|PMID:11288710|PMID:11325820|PMID:11952644|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12433983|PMID:12447395|PMID:12505263|PMID:12621246|PMID:12679336|PMID:12708449|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15048089|PMID:15185344|PMID:15279809|PMID:15338273|PMID:15451479|PMID:15474156|PMID:15593232|PMID:15758953|PMID:15964794|PMID:16033915|PMID:16152606|PMID:16188882|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16702373|PMID:16770759|PMID:16810201|PMID:16998789|PMID:17001621|PMID:17103455|PMID:17496786|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:17957789|PMID:18003706|PMID:18023021|PMID:18049891|PMID:18056440|PMID:18073374|PMID:18280732|PMID:18281469|PMID:18328813|PMID:18566737|PMID:18575580|PMID:18593981|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19105185|PMID:19151620|PMID:19393249|PMID:19409520|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19629396|PMID:19635536|PMID:19804755|PMID:19804756|PMID:19813148|PMID:19908051|PMID:20444919|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21212067|PMID:21302341|PMID:21520333|PMID:21664921|PMID:21698754|PMID:22006311|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23149842|PMID:23317186|PMID:23458873|PMID:23525077|PMID:23555315|PMID:23720301|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24556621|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24830725|PMID:24894818|PMID:24928521|PMID:25117502|PMID:25186627|PMID:25239263|PMID:25318351|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25637381|PMID:25677497|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26092435|PMID:2625251|PMID:26265251|PMID:26270727|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26722329|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26929905|PMID:26934577|PMID:26976419|PMID:26979391|PMID:27028851|PMID:27060854|PMID:27109316|PMID:27148588|PMID:27149842|PMID:27150568|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27878467|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28261280|PMID:28374160|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28717660|PMID:28726808|PMID:28727877|PMID:28796236|PMID:28801450|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29093764|PMID:29173497|PMID:29300386|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29419426|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29506128|PMID:2952226|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29678143|PMID:29706558|PMID:29758565|PMID:29785153|PMID:29915322|PMID:29922827|PMID:29929473|PMID:30256826|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30942098|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31273614|PMID:31278556|PMID:31415627|PMID:31422574|PMID:31512090|PMID:31666926|PMID:31729086|PMID:31742824|PMID:31780696|PMID:31871109|PMID:31874108|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32668560|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32945065|PMID:32959997|PMID:32963463|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33206719|PMID:33309985|PMID:33359728|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33646313|PMID:33652732|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34169133|PMID:34204722|PMID:34350294|PMID:34426522|PMID:34439939|PMID:34544220|PMID:34646395 11715406 NBN nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:35309086|PMID:35467778|PMID:36346689|PMID:36988593|PMID:3802554|PMID:9523210|PMID:9536098|PMID:9590180|PMID:9590181|PMID:9620777 11715406 NBN nibrin gene DOID:9008952 Breast Cancer, Familial ISO RGD:1348611 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:10398434|PMID:10799436|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11953735|PMID:12123493|PMID:12505263|PMID:12833396|PMID:12845677|PMID:14973119|PMID:15185344|PMID:15279809|PMID:16033915|PMID:16415040|PMID:16544999|PMID:17103455|PMID:18606567|PMID:18940477|PMID:19635536|PMID:19908051|PMID:20444919|PMID:20805886|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:23555315|PMID:24033266|PMID:24113799|PMID:25186627|PMID:25485873|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26822949|PMID:26845104|PMID:27150568|PMID:27616075|PMID:28135145|PMID:28492532|PMID:28726808|PMID:28873162|PMID:29300386|PMID:29368341|PMID:29419426|PMID:30374176|PMID:30426508|PMID:31173646|PMID:32295079|PMID:33050356|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 11715406 NBN nibrin gene DOID:9637 stomatitis ISO RGD:1348611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24594932 11715406 NBN nibrin gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1348611 D RGD:7240710 20230505 OMIM 11715406 NBN nibrin gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1348611 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to PMID:11325820|PMID:14559852|PMID:15338273|PMID:16415040|PMID:16474176|PMID:16810201|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18049891|PMID:18280732|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19813148|PMID:19908051|PMID:21212067|PMID:21698754|PMID:22131123|PMID:22373003|PMID:23317186|PMID:23555315|PMID:24093751|PMID:24113799|PMID:24549055|PMID:24728327|PMID:24830725|PMID:25619955|PMID:25712764|PMID:25741868|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26722329|PMID:27153395|PMID:27616075|PMID:27621404|PMID:28076423|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28591191|PMID:29335925|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30441849|PMID:30590007|PMID:30651582|PMID:31159747|PMID:32566746|PMID:34072463|PMID:9590180 11715426 SRSF5 serine and arginine rich splicing factor 5 gene DOID:1612 breast cancer severity ISO RGD:734021 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:17651715|REF_RGD_ID:11039450 11715426 SRSF5 serine and arginine rich splicing factor 5 gene DOID:234 colon adenocarcinoma ISO RGD:734021 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon mucosa (human) PMID:9865741|REF_RGD_ID:11039405 11715426 SRSF5 serine and arginine rich splicing factor 5 gene DOID:3602 toxic encephalopathy ISO RGD:734021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11715426 SRSF5 serine and arginine rich splicing factor 5 gene DOID:409 liver disease ISO RGD:734021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11715426 SRSF5 serine and arginine rich splicing factor 5 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:734021 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney (human) PMID:21082031|REF_RGD_ID:11039407 11715426 SRSF5 serine and arginine rich splicing factor 5 gene DOID:630 genetic disease ISO RGD:734021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11715426 SRSF5 serine and arginine rich splicing factor 5 gene DOID:9000965 Neoplasm Metastasis ISO RGD:734021 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms;mRNA:increased expression:epithelium of female gonad (human) PMID:23748175|REF_RGD_ID:11039469 11715453 ULBP1 UL16 binding protein 1 gene DOID:630 genetic disease ISO RGD:1345767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11715466 ZBTB17 zinc finger and BTB domain containing 17 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1347626 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11715466 ZBTB17 zinc finger and BTB domain containing 17 gene DOID:630 genetic disease ISO RGD:1347626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11715495 WBP1L WW domain binding protein 1 like gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1314041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:12068298|PMID:22508808|PMID:25403219|PMID:28492532|PMID:31639285 11715495 WBP1L WW domain binding protein 1 like gene DOID:630 genetic disease ISO RGD:1314041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11715511 COMTD1 catechol-O-methyltransferase domain containing 1 gene DOID:630 genetic disease ISO RGD:1315279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11715511 COMTD1 catechol-O-methyltransferase domain containing 1 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1315279 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:22077973|PMID:23436491|PMID:25424711|PMID:27880066|PMID:28492532 11715527 SLC36A3 solute carrier family 36 member 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1319236 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11715527 SLC36A3 solute carrier family 36 member 3 gene DOID:4795 GM2 Gangliosidosis, AB variant ISO RGD:1319236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease, variant AB PMID:28492532 11715527 SLC36A3 solute carrier family 36 member 3 gene DOID:630 genetic disease ISO RGD:1319236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11715527 SLC36A3 solute carrier family 36 member 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319236 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11715546 MGST3 microsomal glutathione S-transferase 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1314953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11715546 MGST3 microsomal glutathione S-transferase 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1314953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 11715546 MGST3 microsomal glutathione S-transferase 3 gene DOID:630 genetic disease ISO RGD:1314953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11715546 MGST3 microsomal glutathione S-transferase 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11715557 TSPAN9 tetraspanin 9 gene DOID:630 genetic disease ISO RGD:1602896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11715557 TSPAN9 tetraspanin 9 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1602896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11715574 LRPAP1 LDL receptor related protein associated protein 1 gene DOID:10283 prostate cancer ISO RGD:1354477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11715574 LRPAP1 LDL receptor related protein associated protein 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:1354477 D RGD:9068941 20200609 RGD DNA:deletion:intron PMID:11425005|REF_RGD_ID:1358749 11715574 LRPAP1 LDL receptor related protein associated protein 1 gene DOID:10976 membranous glomerulonephritis ISO RGD:620700 D RGD:9068941 20200609 RGD PMID:7723231|REF_RGD_ID:1641936 11715574 LRPAP1 LDL receptor related protein associated protein 1 gene DOID:10976 membranous glomerulonephritis ISO RGD:620700 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:glomerulus, epithelial cell PMID:7778686|REF_RGD_ID:1641937 11715574 LRPAP1 LDL receptor related protein associated protein 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1354477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 11715574 LRPAP1 LDL receptor related protein associated protein 1 gene DOID:1307 dementia susceptibility ISO RGD:1354477 D RGD:9068941 20200609 RGD DNA:insertion,deletion:intron: PMID:18721259|REF_RGD_ID:10412053 11715574 LRPAP1 LDL receptor related protein associated protein 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1354477 D RGD:9068941 20200609 RGD PMID:12394648|REF_RGD_ID:1581922 11715574 LRPAP1 LDL receptor related protein associated protein 1 gene DOID:630 genetic disease ISO RGD:1354477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11715574 LRPAP1 LDL receptor related protein associated protein 1 gene DOID:9001833 Myopia 23, Autosomal Recessive ISO RGD:1354477 D RGD:7240710 20180130 OMIM 11715574 LRPAP1 LDL receptor related protein associated protein 1 gene DOID:9001833 Myopia 23, Autosomal Recessive ISO RGD:1354477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia 23, autosomal recessive | ClinVar Annotator: match by term: Rare isolated myopia PMID:23830514|PMID:24033266|PMID:25525168|PMID:25741868|PMID:26271838 11715574 LRPAP1 LDL receptor related protein associated protein 1 gene DOID:9004332 Osteoarthritis, Experimental ISO RGD:620700 D RGD:9068941 20200609 RGD mRNA:decreased expression:knee PMID:24754147|REF_RGD_ID:10412054 11715574 LRPAP1 LDL receptor related protein associated protein 1 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:1354477 D RGD:9068941 20200609 RGD associated with Coronary Disease;DNA:SNP:exon PMID:14557872|REF_RGD_ID:1581921 11715588 LOC100995014 membrane-spanning 4-domains subfamily A member 4A gene DOID:0080600 COVID-19 ISO RGD:1315944 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11715588 LOC100995014 membrane-spanning 4-domains subfamily A member 4A gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1315944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11715588 LOC100995014 membrane-spanning 4-domains subfamily A member 4A gene DOID:1059 intellectual disability ISO RGD:1315944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11715588 LOC100995014 membrane-spanning 4-domains subfamily A member 4A gene DOID:10652 Alzheimer's disease ISO RGD:1315944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21460841 11715588 LOC100995014 membrane-spanning 4-domains subfamily A member 4A gene DOID:630 genetic disease ISO RGD:1315944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11715588 LOC100995014 membrane-spanning 4-domains subfamily A member 4A gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1315944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11715612 CHN1 chimerin 1 gene DOID:0060765 autosomal dominant Robinow syndrome 2 ISO RGD:732086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 11715612 CHN1 chimerin 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:732086 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11715612 CHN1 chimerin 1 gene DOID:12557 Duane retraction syndrome ISO RGD:732086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Duane retraction syndrome 11715612 CHN1 chimerin 1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:732086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:25741868 11715612 CHN1 chimerin 1 gene DOID:630 genetic disease ISO RGD:732086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18653847 11715612 CHN1 chimerin 1 gene DOID:9003590 Duane Retraction Syndrome 2 ISO RGD:732086 D RGD:7240710 20200304 OMIM 11715612 CHN1 chimerin 1 gene DOID:9003590 Duane Retraction Syndrome 2 ISO RGD:732086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Duane retraction syndrome 2 PMID:10577917|PMID:10942112|PMID:17197532|PMID:18653847|PMID:20535495|PMID:21555619|PMID:25741868|PMID:28492532 11715697 DNM3 dynamin 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1354127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11715697 DNM3 dynamin 3 gene DOID:630 genetic disease ISO RGD:1354127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11715697 DNM3 dynamin 3 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1354127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 11715697 DNM3 dynamin 3 gene DOID:9002265 Kidney Neoplasms ISO RGD:1354127 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 11715697 DNM3 dynamin 3 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1354127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 11715697 DNM3 dynamin 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11715730 CALHM5 calcium homeostasis modulator family member 5 gene DOID:0060163 body dysmorphic disorder ISO RGD:1321291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 11715730 CALHM5 calcium homeostasis modulator family member 5 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1321291 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 11715730 CALHM5 calcium homeostasis modulator family member 5 gene DOID:1059 intellectual disability ISO RGD:1321291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 11715730 CALHM5 calcium homeostasis modulator family member 5 gene DOID:10907 microcephaly ISO RGD:1321291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 11715730 CALHM5 calcium homeostasis modulator family member 5 gene DOID:1826 epilepsy ISO RGD:1321291 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11715730 CALHM5 calcium homeostasis modulator family member 5 gene DOID:630 genetic disease ISO RGD:1321291 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11715730 CALHM5 calcium homeostasis modulator family member 5 gene DOID:9000495 Tremor ISO RGD:1321291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 11715736 HNRNPA0 heterogeneous nuclear ribonucleoprotein A0 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1318867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11715736 HNRNPA0 heterogeneous nuclear ribonucleoprotein A0 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318867 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11715736 HNRNPA0 heterogeneous nuclear ribonucleoprotein A0 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1318867 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 11715736 HNRNPA0 heterogeneous nuclear ribonucleoprotein A0 gene DOID:3717 gastric adenocarcinoma severity ISO RGD:1318867 D RGD:9068941 20200609 RGD mRNA:decreased expression:gastric adenocarcinoma (human) PMID:23007704|REF_RGD_ID:9854641 11715736 HNRNPA0 heterogeneous nuclear ribonucleoprotein A0 gene DOID:630 genetic disease ISO RGD:1318867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11715736 HNRNPA0 heterogeneous nuclear ribonucleoprotein A0 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11715736 HNRNPA0 heterogeneous nuclear ribonucleoprotein A0 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318867 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11715758 SIPA1L2 signal induced proliferation associated 1 like 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1314792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11715758 SIPA1L2 signal induced proliferation associated 1 like 2 gene DOID:630 genetic disease ISO RGD:1314792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11715758 SIPA1L2 signal induced proliferation associated 1 like 2 gene DOID:9002189 High Myopia ISO RGD:1314792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11715758 SIPA1L2 signal induced proliferation associated 1 like 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11715789 EPHA8 EPH receptor A8 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1350663 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11715789 EPHA8 EPH receptor A8 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1350663 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11715789 EPHA8 EPH receptor A8 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1350663 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11715789 EPHA8 EPH receptor A8 gene DOID:630 genetic disease ISO RGD:1350663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11715789 EPHA8 EPH receptor A8 gene DOID:9002189 High Myopia ISO RGD:1350663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11715789 EPHA8 EPH receptor A8 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1350663 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11715809 FAR1 fatty acyl-CoA reductase 1 gene DOID:0081243 rhizomelic chondrodysplasia punctate type 4 ISO RGD:1315381 D RGD:7240710 20200603 OMIM 11715809 FAR1 fatty acyl-CoA reductase 1 gene DOID:0081243 rhizomelic chondrodysplasia punctate type 4 ISO RGD:1315381 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: Peroxisomal fatty acyl-coa reductase 1 disorder PMID:25439727|PMID:25741868|PMID:28492532 11715809 FAR1 fatty acyl-CoA reductase 1 gene DOID:1059 intellectual disability ISO RGD:1315381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11715809 FAR1 fatty acyl-CoA reductase 1 gene DOID:630 genetic disease ISO RGD:1315381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11715809 FAR1 fatty acyl-CoA reductase 1 gene DOID:9006244 CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY ISO RGD:1315381 D RGD:7240710 20210616 OMIM 11715809 FAR1 fatty acyl-CoA reductase 1 gene DOID:9006244 CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY ISO RGD:1315381 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY | ClinVar Annotator: match by term: FAR1-related neurodevelopmental disorder PMID:25741868|PMID:28492532|PMID:33239752 11715829 CEP126 centrosomal protein 126 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1606251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 11715829 CEP126 centrosomal protein 126 gene DOID:0080600 COVID-19 ISO RGD:1606251 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11715829 CEP126 centrosomal protein 126 gene DOID:1059 intellectual disability ISO RGD:1606251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11715829 CEP126 centrosomal protein 126 gene DOID:12704 ataxia telangiectasia ISO RGD:1606251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11715829 CEP126 centrosomal protein 126 gene DOID:630 genetic disease ISO RGD:1606251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11715851 FASTKD5 FAST kinase domains 5 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1602469 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11715851 FASTKD5 FAST kinase domains 5 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1602469 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11715851 FASTKD5 FAST kinase domains 5 gene DOID:5419 schizophrenia ISO RGD:1602469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 11715851 FASTKD5 FAST kinase domains 5 gene DOID:630 genetic disease ISO RGD:1602469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11715851 FASTKD5 FAST kinase domains 5 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1602469 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 11715860 PHF3 PHD finger protein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1312646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11715860 PHF3 PHD finger protein 3 gene DOID:0110384 retinitis pigmentosa 25 ISO RGD:1312646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 25 PMID:17011488|PMID:18976725|PMID:20237254|PMID:20333770|PMID:20537394|PMID:21069908|PMID:21179430|PMID:21519034|PMID:22302105|PMID:22363543|PMID:22581970|PMID:23591405|PMID:23757202|PMID:24474277|PMID:24652164|PMID:24938718|PMID:25097241|PMID:25133751|PMID:25324289|PMID:25356976|PMID:25366773|PMID:25491159|PMID:25741868|PMID:26161267|PMID:26261414|PMID:26667666|PMID:26787102|PMID:26872967|PMID:27735924|PMID:28041643|PMID:28492532|PMID:28704921|PMID:28763560|PMID:29074561|PMID:29159838|PMID:29550188|PMID:29641573|PMID:30337596|PMID:30543658|PMID:30718709|PMID:31074760|PMID:31144483|PMID:31213501|PMID:31456290|PMID:31725169|PMID:31814702|PMID:32036094|PMID:32037395|PMID:32531858|PMID:32675063|PMID:32728228|PMID:33247286|PMID:33576794|PMID:34178978 11715860 PHF3 PHD finger protein 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1312646 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:18976725|PMID:20237254|PMID:20333770|PMID:20537394|PMID:21069908|PMID:21179430|PMID:22302105|PMID:22363543|PMID:22581970|PMID:24033266|PMID:24474277|PMID:24652164|PMID:24938718|PMID:25097241|PMID:25133751|PMID:25324289|PMID:25356976|PMID:25366773|PMID:25741868|PMID:26161267|PMID:26261414|PMID:26667666|PMID:26787102|PMID:26872967|PMID:27208204|PMID:27658286|PMID:28041643|PMID:28492532|PMID:29159838|PMID:29550188|PMID:30337596|PMID:30543658|PMID:30718709|PMID:31074760|PMID:31213501|PMID:31456290|PMID:31725169|PMID:31814702|PMID:32037395|PMID:32675063|PMID:32728228|PMID:33247286|PMID:33576794|PMID:33749171|PMID:34178978 11715860 PHF3 PHD finger protein 3 gene DOID:1059 intellectual disability ISO RGD:1312646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 11715860 PHF3 PHD finger protein 3 gene DOID:11782 astigmatism ISO RGD:1312646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astigmatism PMID:25741868 11715860 PHF3 PHD finger protein 3 gene DOID:630 genetic disease ISO RGD:1312646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11715860 PHF3 PHD finger protein 3 gene DOID:8501 fundus dystrophy ISO RGD:1312646 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:18976725|PMID:20237254|PMID:20333770|PMID:20537394|PMID:21069908|PMID:21519034|PMID:22302105|PMID:22363543|PMID:22581970|PMID:23591405|PMID:23757202|PMID:24474277|PMID:24652164|PMID:25324289|PMID:25356976|PMID:25366773|PMID:25741868|PMID:26161267|PMID:26261414|PMID:26872967|PMID:27208204|PMID:28492532|PMID:28704921|PMID:29159838|PMID:29550188|PMID:30337596|PMID:30718709|PMID:31074760|PMID:31213501|PMID:31725169|PMID:32036094|PMID:32037395|PMID:32531858|PMID:32728228|PMID:33749171 11715860 PHF3 PHD finger protein 3 gene DOID:9000343 Vision Disorders ISO RGD:1312646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:25741868 11715860 PHF3 PHD finger protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312646 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11715885 ATXN10 ataxin 10 gene DOID:0050960 spinocerebellar ataxia type 10 ISO RGD:1351525 D RGD:7240710 20180130 OMIM 11715885 ATXN10 ataxin 10 gene DOID:0050960 spinocerebellar ataxia type 10 ISO RGD:1351525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 10 PMID:25741868 11715885 ATXN10 ataxin 10 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1351525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11715885 ATXN10 ataxin 10 gene DOID:1059 intellectual disability ISO RGD:1351525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11715885 ATXN10 ataxin 10 gene DOID:630 genetic disease ISO RGD:1351525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11715885 ATXN10 ataxin 10 gene DOID:9002121 Spinocerebellar Ataxias susceptibility ISO RGD:1351525 D RGD:9068941 20200609 RGD DNA:repeat:intron 9 PMID:11017075|REF_RGD_ID:1599410 11715902 SRPX sushi repeat containing protein X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11715902 SRPX sushi repeat containing protein X-linked gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:733583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked PMID:22929960|PMID:27701760|PMID:28492532 11715902 SRPX sushi repeat containing protein X-linked gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:733583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 11715902 SRPX sushi repeat containing protein X-linked gene DOID:12849 autistic disorder ISO RGD:733583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11715902 SRPX sushi repeat containing protein X-linked gene DOID:630 genetic disease ISO RGD:733583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11715902 SRPX sushi repeat containing protein X-linked gene DOID:684 hepatocellular carcinoma ISO RGD:733583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11715902 SRPX sushi repeat containing protein X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11715902 SRPX sushi repeat containing protein X-linked gene DOID:9007661 Dwarfism ISO RGD:733583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11715902 SRPX sushi repeat containing protein X-linked gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:733583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:10946359|PMID:11793468|PMID:16786505|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 11715902 SRPX sushi repeat containing protein X-linked gene DOID:9562 primary ciliary dyskinesia ISO RGD:733583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11715916 C17H17orf99 chromosome 17 C17orf99 homolog gene DOID:630 genetic disease ISO RGD:2299182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11715925 SMYD4 SET and MYND domain containing 4 gene DOID:0050902 medulloblastoma ISO RGD:1316528 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 11715925 SMYD4 SET and MYND domain containing 4 gene DOID:630 genetic disease ISO RGD:1316528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11715948 PHKA2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1344785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11715948 PHKA2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11715948 PHKA2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1344785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11715948 PHKA2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1344785 D RGD:7240710 20180130 OMIM 11715948 PHKA2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1344785 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar Annotator: match by term: Glycogen storage disease IXa2 | ClinVar Annotator: match by term: LIVER GLYCOGENOSIS, X-LINKED, TYPE I PMID:10330341|PMID:11286390|PMID:12862311|PMID:16199547|PMID:17304053|PMID:17576681|PMID:17689125|PMID:18076117|PMID:19763152|PMID:20307669|PMID:21634085|PMID:21646031|PMID:21857251|PMID:21911307|PMID:22406018|PMID:22899091|PMID:2303074|PMID:23578772|PMID:24055370|PMID:25070466|PMID:25266922|PMID:25315662|PMID:25741868|PMID:25741869|PMID:26157701|PMID:26944031|PMID:27103379|PMID:28085675|PMID:28283841|PMID:28468868|PMID:28492532|PMID:28600779|PMID:28627441|PMID:30659246|PMID:30945684|PMID:31248825|PMID:31508908|PMID:31987065|PMID:32244026|PMID:32387637|PMID:34117828|PMID:34277355|PMID:5306139|PMID:7711737|PMID:7847371|PMID:7959740|PMID:8733133|PMID:8733134|PMID:9536098|PMID:9600238|PMID:9835437|PMID:9870210 11715948 PHKA2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:12849 autistic disorder ISO RGD:1344785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11715948 PHKA2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:2747 glycogen storage disease ISO RGD:1344785 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7711737 11715948 PHKA2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:2747 glycogen storage disease ISO RGD:1344785 D RGD:9068941 20200609 RGD glycogen storage disease IXa,OMIM:306000;DNA:point mutations,deletion,insertion PMID:7711737|REF_RGD_ID:1601388 11715948 PHKA2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:2751 glycogen storage disease VIII ISO RGD:1344785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Phosphorylase kinase deficiency of liver 11715948 PHKA2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1344785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11715948 PHKA2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1344785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10330341|PMID:12862311|PMID:17576681|PMID:17689125|PMID:23578772|PMID:25741868|PMID:27103379|PMID:28283841|PMID:28492532|PMID:28627441|PMID:31508908|PMID:34117828|PMID:9536098 11715948 PHKA2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:1344785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:17172462|PMID:20591708|PMID:21914562|PMID:22473288|PMID:28492532|PMID:9618178 11715948 PHKA2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11715993 CAPN12 calpain 12 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1316482 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11715993 CAPN12 calpain 12 gene DOID:630 genetic disease ISO RGD:1316482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11715993 CAPN12 calpain 12 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1316482 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11716036 TOMM70 translocase of outer mitochondrial membrane 70 gene DOID:1459 hypothyroidism ISO RGD:1303049 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum PMID:10582581|REF_RGD_ID:11522362 11716036 TOMM70 translocase of outer mitochondrial membrane 70 gene DOID:6000 congestive heart failure ISO RGD:1303049 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:heart, mitochondrion PMID:24395194|REF_RGD_ID:13464132 11716036 TOMM70 translocase of outer mitochondrial membrane 70 gene DOID:6000 congestive heart failure ISO RGD:1343038 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:25022898|REF_RGD_ID:13464131 11716036 TOMM70 translocase of outer mitochondrial membrane 70 gene DOID:630 genetic disease ISO RGD:1343038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11716036 TOMM70 translocase of outer mitochondrial membrane 70 gene DOID:9003936 Cardiomegaly ISO RGD:1303049 D RGD:9068941 20200609 RGD protein:decreased expression:left ventricle myocardium PMID:25022898|REF_RGD_ID:13464131 11716036 TOMM70 translocase of outer mitochondrial membrane 70 gene DOID:9003936 Cardiomegaly ISO RGD:1551718 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:25022898|REF_RGD_ID:13464131 11716036 TOMM70 translocase of outer mitochondrial membrane 70 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1303049 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:23255365|REF_RGD_ID:13463486 11716052 FBXW2 F-box and WD repeat domain containing 2 gene DOID:630 genetic disease ISO RGD:1321373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11716079 SAAL1 serum amyloid A like 1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1606985 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 11716079 SAAL1 serum amyloid A like 1 gene DOID:1059 intellectual disability ISO RGD:1606985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11716079 SAAL1 serum amyloid A like 1 gene DOID:630 genetic disease ISO RGD:1606985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11716097 NPM2 nucleophosmin/nucleoplasmin 2 gene DOID:630 genetic disease ISO RGD:737293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11716114 MAL2 mal, T cell differentiation protein 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1348409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11716114 MAL2 mal, T cell differentiation protein 2 gene DOID:206 hereditary multiple exostoses ISO RGD:1348409 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 11716114 MAL2 mal, T cell differentiation protein 2 gene DOID:630 genetic disease ISO RGD:1348409 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11716122 BTBD7 BTB domain containing 7 gene DOID:0080054 achondrogenesis type IA ISO RGD:1345329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11716122 BTBD7 BTB domain containing 7 gene DOID:0081063 DICER1 syndrome ISO RGD:1345329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 11716122 BTBD7 BTB domain containing 7 gene DOID:630 genetic disease ISO RGD:1345329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11716140 PRICKLE3 prickle planar cell polarity protein 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11716140 PRICKLE3 prickle planar cell polarity protein 3 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1350042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 11716140 PRICKLE3 prickle planar cell polarity protein 3 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1350042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11716140 PRICKLE3 prickle planar cell polarity protein 3 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1350042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11716140 PRICKLE3 prickle planar cell polarity protein 3 gene DOID:0111754 Leber plus disease ISO RGD:1553854 D RGD:9068941 20220825 MouseDO 11716140 PRICKLE3 prickle planar cell polarity protein 3 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1350042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11716140 PRICKLE3 prickle planar cell polarity protein 3 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1350042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 11716140 PRICKLE3 prickle planar cell polarity protein 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1350042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27876815 11716140 PRICKLE3 prickle planar cell polarity protein 3 gene DOID:12849 autistic disorder ISO RGD:1350042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11716140 PRICKLE3 prickle planar cell polarity protein 3 gene DOID:630 genetic disease ISO RGD:1350042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11716140 PRICKLE3 prickle planar cell polarity protein 3 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1350042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber optic atrophy PMID:32516135 11716140 PRICKLE3 prickle planar cell polarity protein 3 gene DOID:9004196 Leber Optic Atrophy, Susceptibility To ISO RGD:1350042 D RGD:7240710 20220309 OMIM 11716162 MFSD11 major facilitator superfamily domain containing 11 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:1603960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome PMID:27993330 11716162 MFSD11 major facilitator superfamily domain containing 11 gene DOID:630 genetic disease ISO RGD:1603960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11716187 SPAG4 sperm associated antigen 4 gene DOID:630 genetic disease ISO RGD:734255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11716206 AP2A2 adaptor related protein complex 2 subunit alpha 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11716206 AP2A2 adaptor related protein complex 2 subunit alpha 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:735567 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11716206 AP2A2 adaptor related protein complex 2 subunit alpha 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:735567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11716206 AP2A2 adaptor related protein complex 2 subunit alpha 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11716206 AP2A2 adaptor related protein complex 2 subunit alpha 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11716206 AP2A2 adaptor related protein complex 2 subunit alpha 2 gene DOID:630 genetic disease ISO RGD:735567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11716206 AP2A2 adaptor related protein complex 2 subunit alpha 2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:735567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11716237 RNF135 ring finger protein 135 gene DOID:0060041 autism spectrum disorder ISO RGD:1313173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:17632510|PMID:30665703|PMID:30763456 11716237 RNF135 ring finger protein 135 gene DOID:0060403 chromosome 17q11.2 deletion syndrome ISO RGD:1313173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome PMID:17632510|PMID:21681106|PMID:25741868|PMID:27535533|PMID:28135719|PMID:30665703|PMID:30763456 11716237 RNF135 ring finger protein 135 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1313173 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 11716237 RNF135 ring finger protein 135 gene DOID:1969 cerebral palsy ISO RGD:1313173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 11716237 RNF135 ring finger protein 135 gene DOID:630 genetic disease ISO RGD:1313173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11716237 RNF135 ring finger protein 135 gene DOID:9006257 Growth Disorders ISO RGD:1313173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17632510 11716237 RNF135 ring finger protein 135 gene DOID:9008086 Developmental Disabilities ISO RGD:1313173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 11716246 AURKC aurora kinase C gene DOID:0070183 spermatogenic failure 5 ISO RGD:1343852 D RGD:7240710 20190315 OMIM 11716246 AURKC aurora kinase C gene DOID:0070183 spermatogenic failure 5 ISO RGD:1343852 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Infertility associated with multi-tailed spermatozoa and excessive DNA | ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder PMID:17435757|PMID:19147683|PMID:21733974|PMID:22888167|PMID:24033266|PMID:25219909|PMID:25741868|PMID:25755131|PMID:26341096|PMID:27106102|PMID:28492532|PMID:31455599 11716246 AURKC aurora kinase C gene DOID:0111910 spermatogenic failure ISO RGD:1343852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic Failure 11716246 AURKC aurora kinase C gene DOID:12336 male infertility ISO RGD:1343852 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17435757 11716246 AURKC aurora kinase C gene DOID:630 genetic disease ISO RGD:1343852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11716257 KLHDC3 kelch domain containing 3 gene DOID:0050444 infantile Refsum disease ISO RGD:1316101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11716257 KLHDC3 kelch domain containing 3 gene DOID:630 genetic disease ISO RGD:1316101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11716257 KLHDC3 kelch domain containing 3 gene DOID:905 Zellweger syndrome ISO RGD:1316101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:0001816 angiosarcoma ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10930038 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:0050469 Costello syndrome ISO RGD:730881 D RGD:7240710 20180130 OMIM 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:0050469 Costello syndrome ISO RGD:730881 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Costello syndrome | ClinVar Annotator: match by term: FCS syndrome PMID:10716188|PMID:11150980|PMID:12835555|PMID:1362901|PMID:15491620|PMID:15843272|PMID:16155195|PMID:16170316|PMID:16199547|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16474405|PMID:16478791|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16921267|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17576681|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19995790|PMID:20112233|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20949621|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21779495|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22256804|PMID:22317973|PMID:22318994|PMID:22420426|PMID:22488832|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23321623|PMID:23335589|PMID:23406027|PMID:23412389|PMID:23429430|PMID:23487764|PMID:23548900|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24259709|PMID:24390138|PMID:24728327|PMID:24803665|PMID:25070542|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25668678|PMID:25695684|PMID:25741868|PMID:25742471|PMID:25815234|PMID:25914166|PMID:26001911|PMID:26467025|PMID:26467218|PMID:26561417|PMID:26580448|PMID:26619011|PMID:26633542|PMID:2674130|PMID:26778095|PMID:26806338|PMID:26888048|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27468687|PMID:27589201|PMID:28002430|PMID:28027064|PMID:28139825|PMID:28179458|PMID:28328122|PMID:28371260|PMID:28390077|PMID:28489335|PMID:28492532|PMID:29493581|PMID:29684080|PMID:2999610|PMID:3004741|PMID:30055033|PMID:30138938|PMID:3018526|PMID:30732632|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32313153|PMID:32371413|PMID:3283542|PMID:3304147|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6287572|PMID:6287573|PMID:6288698|PMID:6330729|PMID:7177195|PMID:8605880|PMID:8626650|PMID:8960317|PMID:9536098 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:0050729 neutral lipid storage disease ISO RGD:730881 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:0050868 hepatocellular adenoma ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8200073 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:0050908 myelodysplastic syndrome ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:0060071 pre-malignant neoplasm ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2675901 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17703371 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:0060581 Noonan syndrome 3 ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 3 PMID:12727991|PMID:1904555|PMID:19855393|PMID:25157968|PMID:26619011|PMID:31775759|PMID:3510078 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:0080202 adenoid cystic carcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:0080690 RASopathy ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26580448|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:0080773 delta beta-thalassemia ISO RGD:730881 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:0111162 epidermal nevus ISO RGD:730881 D RGD:7240710 20180130 OMIM 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:0111162 epidermal nevus ISO RGD:730881 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC | ClinVar Annotator: match by term: Nevus sebaceous PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:2999610|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:0111162 epidermal nevus ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC | ClinVar Annotator: match by term: Nevus sebaceous | ClinVar Annotator: match by term: Woolly hair nevus PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:0111359 large congenital melanocytic nevus ISO RGD:730881 D RGD:7240710 20180130 OMIM 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:0111359 large congenital melanocytic nevus ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital giant melanocytic nevus | ClinVar Annotator: match by term: Large congenital melanocytic nevus PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25742471|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:0111530 linear nevus sebaceous syndrome ISO RGD:730881 D RGD:7240710 20180130 OMIM 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:0111530 linear nevus sebaceous syndrome ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Linear nevus sebaceous | ClinVar Annotator: match by term: Linear nevus sebaceous syndrome | ClinVar Annotator: match by term: Organoid nevus phakomatosis PMID:12835555|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:0111969 immunodeficiency 39 ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:1040 chronic lymphocytic leukemia ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:12835555|PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19773371|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21850009|PMID:22256804|PMID:22499344|PMID:22683711|PMID:22726224|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26619011|PMID:27283355|PMID:27444071|PMID:28492532|PMID:29493581|PMID:31775759 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:1059 intellectual disability ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:10652 Alzheimer's disease ISO RGD:730881 D RGD:9068941 20200609 RGD protein:increased expression:brain, neuron (human) PMID:10661494|REF_RGD_ID:10412306 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:10933 obsessive-compulsive disorder ISO RGD:730881 D RGD:9068941 20200609 RGD DNA:tandem repeat polymorphism:3' end: PMID:8832771|REF_RGD_ID:12738360 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:11054 urinary bladder cancer ISO RGD:730881 D RGD:7240710 20180130 OMIM 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:11054 urinary bladder cancer ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder | ClinVar Annotator: match by term: Urinary bladder cancer PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:31394527|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:730881 D RGD:9068941 20200609 RGD PMID:19762144|REF_RGD_ID:2314833 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:1107 esophageal carcinoma ISO RGD:730881 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:1107 esophageal carcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:12849 autistic disorder ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8098541 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:12849 autistic disorder ISO RGD:730881 D RGD:9068941 20200609 RGD PMID:8098541|REF_RGD_ID:1358733 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:14566 disease of cellular proliferation ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:1904555|PMID:19213030|PMID:19255327|PMID:19773371|PMID:21438134|PMID:21495179|PMID:21850009|PMID:23093928|PMID:23406027|PMID:23429430|PMID:24006476|PMID:24033266|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29493581|PMID:3510078 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:1749 squamous cell carcinoma ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24224046|PMID:25125259 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:1749 squamous cell carcinoma ISO RGD:730881 D RGD:9068941 20200609 RGD associated with Xeroderma Pigmentosum;missense mutations:cds:pG12V, pQ61H (human) PMID:8453633|REF_RGD_ID:10412316 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:1909 melanoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:2048 autoimmune hepatitis ISO RGD:730881 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:9195373|REF_RGD_ID:14694814 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:2394 ovarian cancer ISO RGD:730881 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:2526 prostate adenocarcinoma ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate | ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:2526 prostate adenocarcinoma ISO RGD:730881 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23429430|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:2526 prostate adenocarcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate | ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:2615 papilloma ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8330346 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:2671 transitional cell carcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:730881 D RGD:9068941 20200609 RGD DNA:snps:cds: (human) PMID:8960147|REF_RGD_ID:13781876 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:730881 D RGD:9068941 20200609 RGD protein:increased expression:endometrial stroma, cytoplasm (human) PMID:9641239|REF_RGD_ID:13441555 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:305 carcinoma ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8185828 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:3068 glioblastoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:3068 glioblastoma severity ISO RGD:730881 D RGD:9068941 20200609 RGD PMID:19179066|REF_RGD_ID:13702872 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:3069 malignant astrocytoma ISO RGD:10730 D RGD:9068941 20220825 MouseDO 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:3070 high grade glioma ISO RGD:10730 D RGD:9068941 20220825 MouseDO OMIM:137800 | OMIM:607248 | OMIM:613028 | OMIM:613029 | OMIM:613030 | OMIM:613031 | OMIM:613032 | OMIM:613033 | OMIM:616568 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:3070 high grade glioma ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:3165 skin benign neoplasm ISO RGD:730881 D RGD:9068941 20200609 RGD associated with Nevus, Sebaceous of Jadassohn;DNA:mutation:cds:c.37G>C(p.G13R)(human) PMID:22683711|REF_RGD_ID:11098548 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:3247 rhabdomyosarcoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22683711|PMID:23093928|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:3275 thymoma ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thymoma PMID:20859122|PMID:24224811|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27283355|PMID:31775759 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:3490 Noonan syndrome ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19773371|PMID:21438134|PMID:21495179|PMID:21850009|PMID:23093928|PMID:23406027|PMID:23429430|PMID:24033266|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26580448|PMID:26619011|PMID:28492532|PMID:29493581 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:3571 liver cancer ISO RGD:10730 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.Q61L, p.Q61K, p.Q61R (mouse) PMID:9142214|REF_RGD_ID:14688053 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:363 uterine cancer ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:3717 gastric adenocarcinoma ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:3717 gastric adenocarcinoma ISO RGD:730881 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:3717 gastric adenocarcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:3907 lung squamous cell carcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:12835555|PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:1904555|PMID:19213030|PMID:19255327|PMID:19773371|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21850009|PMID:22256804|PMID:22499344|PMID:22683711|PMID:22726224|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:26619011|PMID:27283355|PMID:27444071|PMID:28492532|PMID:29493581|PMID:31775759|PMID:3510078 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:3908 lung non-small cell carcinoma ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:10716188|PMID:21779495|PMID:24033266|PMID:25741868|PMID:2674130|PMID:28492532|PMID:29493581|PMID:3004741|PMID:3283542|PMID:3304147|PMID:6287572|PMID:6287573|PMID:6288698 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:3910 lung adenocarcinoma ISO RGD:730881 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:3910 lung adenocarcinoma ISO RGD:730881 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892|PMID:3510078 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:3910 lung adenocarcinoma ISO RGD:730881 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:3910 lung adenocarcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:4007 bladder carcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Urinary bladder carcinoma PMID:16170316|PMID:16372351|PMID:16443854|PMID:16835863|PMID:17601930|PMID:18039947|PMID:18042262|PMID:19382114|PMID:21850009|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23429430|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28027064|PMID:28492532|PMID:31394527 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:4074 pancreatic adenocarcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:4440 seminoma ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19855393 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:4440 seminoma ISO RGD:730881 D RGD:9068941 20200609 RGD DNA:mutations: :multiple (human) PMID:19855393|REF_RGD_ID:2314832 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:4465 papillary renal cell carcinoma ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:4465 papillary renal cell carcinoma ISO RGD:730881 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:4465 papillary renal cell carcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:5082 liver cirrhosis ISO RGD:730881 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:7535324|REF_RGD_ID:14694815 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730881 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730881 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:5834 spermatocytoma ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatocytic seminoma PMID:12727991|PMID:19855393|PMID:25157968|PMID:31775759 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:591 phobic disorder ISO RGD:730881 D RGD:9068941 20200609 RGD DNA:tandem repeat polymorphism:3' end: PMID:8832771|REF_RGD_ID:12738360 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:6171 uterine carcinosarcoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:630 genetic disease ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17576681|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22683711|PMID:23093928|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24259709|PMID:24803665|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:8605880|PMID:9536098 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:6420 pulmonary valve stenosis ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:28492532 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:6536 plasma cell neoplasm ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma ISO RGD:730881 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma treatment ISO RGD:730881 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:10791191|REF_RGD_ID:14688055 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:686 liver carcinoma ISO RGD:2827 D RGD:9068941 20200609 RGD DNA:hypomethylation PMID:3345576|REF_RGD_ID:14694848 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:7608 parathyroid adenoma ISO RGD:730881 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Parathyroid adenoma PMID:25741868|PMID:35738466 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:769 neuroblastoma ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814359|PMID:26121086 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:8923 skin melanoma ISO RGD:730881 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892|PMID:3510078 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:8923 skin melanoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:8947 diabetic retinopathy ISO RGD:2827 D RGD:9068941 20200609 RGD PMID:14988264|REF_RGD_ID:1358731 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9000217 Stomach Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11397402|PMID:26558449 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9000294 Trichilemmoma ISO RGD:730881 D RGD:9068941 20200609 RGD associated with Nevus sebaceous; DNA:mutation:exon:c.37G>C (p.G13R)(human) PMID:24890286|REF_RGD_ID:12738400 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8185828 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9000918 Disease Progression ISO RGD:730881 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:12082015|PMID:32621833 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:730881 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets PMID:25741868|PMID:35738466 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20118494|PMID:21147764|PMID:27517622|PMID:7955063 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9002170 Experimental Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11552296|PMID:26558449|PMID:3433577 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:12835555|PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19773371|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21850009|PMID:22256804|PMID:22499344|PMID:22683711|PMID:22726224|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26619011|PMID:27283355|PMID:27444071|PMID:28492532|PMID:29493581|PMID:31775759 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9002304 Prostatic Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9002650 Sebaceous Nevus Syndrome and Hemimegalencephaly ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly PMID:12835555|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9002762 Ovarian Neoplasms onset ISO RGD:730881 D RGD:9068941 20200609 RGD protein:increased expression:endometrial stroma (human) PMID:9641239|REF_RGD_ID:13441555 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9002801 Recurrence ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9003196 Penile Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18355852 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salivary gland neoplasm PMID:17384584|PMID:19255327|PMID:19773371|PMID:23406027|PMID:24006476|PMID:25157968|PMID:25695684|PMID:25741868 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9003571 Paraproteinemias ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9004464 Skin Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15958052|PMID:18758463|PMID:24898257|PMID:26558449|PMID:8330346|PMID:8508502|PMID:9766437 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9004547 Thyroid Neoplasms ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16478791|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28489335|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:3018526|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23877152 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:730881 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9005120 Pigmented Nevus ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PIGMENTED MOLES PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9005172 Lung Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10779650|PMID:11307925|PMID:11552296|PMID:12765245|PMID:15902970 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nasopharyngeal Neoplasms PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2827 D RGD:9068941 20200609 RGD DNA:mutation: :p.G12E (rat) PMID:19652463|REF_RGD_ID:2314834 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11376698|PMID:8185828 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9005343 Splenic Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26558449 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2827 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina blood vessel PMID:18514235|REF_RGD_ID:2314841 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9005820 Congenital Myopathy with Excess of Muscle Spindles ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, with excess of muscle spindles PMID:11150980|PMID:1362901|PMID:15843272|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17384584|PMID:17412879|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19255327|PMID:19371735|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20979192|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:23406027|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25070542|PMID:25157968|PMID:25668678|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26001911|PMID:26467025|PMID:26619011|PMID:26778095|PMID:28139825|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8626650|PMID:8960317 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9005873 Tongue Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20043093 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9005873 Tongue Neoplasms susceptibility ISO RGD:730881 D RGD:9068941 20200609 RGD PMID:20043093|REF_RGD_ID:12738401 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:730881 D RGD:7240710 20180130 OMIM 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 2 | ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 PMID:12727991|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:19855393|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:21403836|PMID:24033266|PMID:25346259|PMID:25741868|PMID:25742471|PMID:26580448|PMID:28492532|PMID:9536098 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9007188 Liver Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10874023|PMID:12082015|PMID:12127263|PMID:16410370|PMID:17514646 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9007364 Mouth Neoplasms ISO RGD:2827 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;protein:increased expression:oral region PMID:19283661|REF_RGD_ID:2314840 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9007364 Mouth Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24224046 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9007502 Brain Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12115494|PMID:18245498|PMID:18829283|PMID:22048643|PMID:23877152 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9008192 Neoplastic Processes ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12082015 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9008386 Hydrops Fetalis ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal edema PMID:12835555|PMID:16170316|PMID:16329078|PMID:16443854|PMID:17384584|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18642361|PMID:19255327|PMID:19773371|PMID:20658932|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25157968|PMID:25741868|PMID:26561417|PMID:26619011|PMID:26916728|PMID:27102959|PMID:27444071|PMID:28371260|PMID:28492532|PMID:31222966|PMID:31775759 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9008443 Colorectal Neoplasms ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16478791|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28371260|PMID:28489335|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:3018526|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9008939 Breast Neoplasms ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9009116 Urinary Bladder Neoplasm ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Urinary Bladder Neoplasms PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:31394527|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:730881 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:730881 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9538 multiple myeloma ISO RGD:730881 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9538 multiple myeloma ISO RGD:730881 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 11716276 HRAS HRas proto-oncogene, GTPase gene DOID:9538 multiple myeloma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 11716297 LOC100995068 olfactory receptor 1J1 gene DOID:630 genetic disease ISO RGD:1346374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11716300 CAPRIN1 cell cycle associated protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1313896 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11716300 CAPRIN1 cell cycle associated protein 1 gene DOID:1059 intellectual disability ISO RGD:1313896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11716300 CAPRIN1 cell cycle associated protein 1 gene DOID:630 genetic disease ISO RGD:1313896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11716353 SCAMP3 secretory carrier membrane protein 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:68495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11716353 SCAMP3 secretory carrier membrane protein 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:68495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11716353 SCAMP3 secretory carrier membrane protein 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:68495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11716353 SCAMP3 secretory carrier membrane protein 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:68495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11716353 SCAMP3 secretory carrier membrane protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:68495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11716353 SCAMP3 secretory carrier membrane protein 3 gene DOID:5812 MHC class II deficiency ISO RGD:68495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11716353 SCAMP3 secretory carrier membrane protein 3 gene DOID:630 genetic disease ISO RGD:68495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11716353 SCAMP3 secretory carrier membrane protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:68495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11716381 CBLIF cobalamin binding intrinsic factor gene DOID:0050734 congenital intrinsic factor deficiency ISO RGD:735662 D RGD:7240710 20180130 OMIM 11716381 CBLIF cobalamin binding intrinsic factor gene DOID:0050734 congenital intrinsic factor deficiency ISO RGD:735662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital intrinsic factor deficiency | ClinVar Annotator: match by term: Hereditary intrinsic factor deficiency PMID:14576042|PMID:14695536|PMID:15738392|PMID:16199547|PMID:17576681|PMID:19036097|PMID:20408840|PMID:21867658|PMID:22854512|PMID:22929189|PMID:24033266|PMID:25308559|PMID:25640679|PMID:25741868|PMID:27577878|PMID:28492532|PMID:9536098 11716381 CBLIF cobalamin binding intrinsic factor gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:735662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11716381 CBLIF cobalamin binding intrinsic factor gene DOID:1059 intellectual disability ISO RGD:735662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11716381 CBLIF cobalamin binding intrinsic factor gene DOID:10808 gastric ulcer ISO RGD:735662 D RGD:9068941 20200609 RGD associated with Polycythemia; mRNA:decreased expression:gastric mucosa: PMID:26485402|REF_RGD_ID:11049581 11716381 CBLIF cobalamin binding intrinsic factor gene DOID:13381 pernicious anemia ISO RGD:735662 D RGD:9068941 20200609 RGD PMID:167441|PMID:4434116|REF_RGD_ID:11049584|REF_RGD_ID:11049587 11716381 CBLIF cobalamin binding intrinsic factor gene DOID:4029 gastritis ISO RGD:62084 D RGD:9068941 20200609 RGD PMID:1097299|REF_RGD_ID:11049585 11716381 CBLIF cobalamin binding intrinsic factor gene DOID:5419 schizophrenia ISO RGD:735662 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 11716381 CBLIF cobalamin binding intrinsic factor gene DOID:9006481 Imerslund-Grasbeck Syndrome 1 ISO RGD:735662 D RGD:9068941 20200609 RGD DNA:polymorphisms, missense mutations, splice sites:exon,intron: PMID:15738392|REF_RGD_ID:11049583 11716381 CBLIF cobalamin binding intrinsic factor gene DOID:9006481 Imerslund-Grasbeck Syndrome 1 ISO RGD:735662 D RGD:9068941 20200609 RGD protein:increased excretion:urine: PMID:10435666|REF_RGD_ID:11049586 11716397 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:0080141 mosaic variegated aneuploidy syndrome 1 ISO RGD:1316316 D RGD:7240710 20180130 OMIM 11716397 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:0080141 mosaic variegated aneuploidy syndrome 1 ISO RGD:1316316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 PMID:11169558|PMID:15475955|PMID:16199547|PMID:16411201|PMID:17576681|PMID:18548531|PMID:20516114|PMID:21190457|PMID:21520333|PMID:24033266|PMID:24728327|PMID:25502805|PMID:25640679|PMID:25741868|PMID:26822237|PMID:27239782|PMID:27331020|PMID:28492532|PMID:28591191|PMID:28767289|PMID:28976722|PMID:29625052|PMID:30512160|PMID:30716324|PMID:31053147|PMID:31738183|PMID:9521327|PMID:9536098|PMID:9916837 11716397 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:0080600 COVID-19 ISO RGD:1316316 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11716397 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:0080641 tongue carcinoma ISO RGD:1316316 D RGD:9068941 20200609 RGD associated with oral squamous cell carcinoma; protein:increased expression: oral mucosa squamous cell, cervical lymph node (human) PMID:20204288|REF_RGD_ID:27372889 11716397 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:0080688 mosaic variegated aneuploidy syndrome ISO RGD:1316316 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome PMID:24728327|PMID:25741868|PMID:28492532 11716397 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:10907 microcephaly ISO RGD:1316316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11716397 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:1520 colon carcinoma ISO RGD:1316316 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:24728327|PMID:25741868|PMID:28492532|PMID:9521327 11716397 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:1793 pancreatic cancer ISO RGD:1316316 D RGD:9068941 20200609 RGD protein:altered localization:pancreas PMID:17242465|REF_RGD_ID:2326105 11716397 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:1969 cerebral palsy ISO RGD:1316316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 11716397 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:2394 ovarian cancer ISO RGD:1316316 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 11716397 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:2717 Bloom syndrome ISO RGD:1316316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11716397 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:3121 gallbladder cancer ISO RGD:1316316 D RGD:9068941 20200609 RGD mRNA:increased expression:gallbladder PMID:18497548|REF_RGD_ID:2324871 11716397 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:1316316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15475955 11716397 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1316316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18691855 11716397 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:630 genetic disease ISO RGD:1316316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20516114|PMID:24728327|PMID:25502805|PMID:25741868|PMID:28492532|PMID:28591191|PMID:9536098 11716397 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:684 hepatocellular carcinoma ISO RGD:1316316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11716397 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:767 muscular atrophy ISO RGD:1316317 D RGD:9068941 20200609 RGD PMID:23792145|REF_RGD_ID:10059412 11716397 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1316316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28553959 11716397 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9006257 Growth Disorders ISO RGD:1316316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15475955 11716397 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9007183 Premature Chromatid Separation Trait ISO RGD:1316316 D RGD:7240710 20180130 OMIM 11716397 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9007183 Premature Chromatid Separation Trait ISO RGD:1316316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Premature chromatid separation trait PMID:11169558|PMID:15475955|PMID:16411201|PMID:18548531|PMID:20516114|PMID:21190457|PMID:25502805|PMID:25741868|PMID:28492532|PMID:28767289|PMID:29625052|PMID:30512160|PMID:31738183|PMID:9916837 11716397 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316316 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 11716397 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9008692 Aneuploidy susceptibility ISO RGD:1316316 D RGD:9068941 20200609 RGD DNA:missense mutation: ; mosaic variegated aneuploidy syndrome, OMIM:257300 PMID:15475955|REF_RGD_ID:1600540 11716397 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9256 colorectal cancer ISO RGD:1316316 D RGD:7240710 20200226 OMIM 11716397 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9256 colorectal cancer ISO RGD:1316316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:17576681|PMID:20516114|PMID:24728327|PMID:25741868|PMID:28492532|PMID:9536098 11716459 CRB2 crumbs cell polarity complex component 2 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1347869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:25557779|PMID:25741868|PMID:27004616|PMID:27942854|PMID:28492532|PMID:30212996|PMID:32581362 11716459 CRB2 crumbs cell polarity complex component 2 gene DOID:0111134 focal segmental glomerulosclerosis 9 ISO RGD:1347869 D RGD:7240710 20180130 OMIM 11716459 CRB2 crumbs cell polarity complex component 2 gene DOID:0111134 focal segmental glomerulosclerosis 9 ISO RGD:1347869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 9 PMID:25557779|PMID:25741868|PMID:27004616|PMID:27942854|PMID:28492532|PMID:30212996|PMID:32581362|PMID:33532864 11716459 CRB2 crumbs cell polarity complex component 2 gene DOID:0111625 ventriculomegaly - cystic kidney disease ISO RGD:1347869 D RGD:7240710 20180130 OMIM 11716459 CRB2 crumbs cell polarity complex component 2 gene DOID:0111625 ventriculomegaly - cystic kidney disease ISO RGD:1347869 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ventriculomegaly-cystic kidney disease PMID:25557779|PMID:25557780|PMID:25741868|PMID:26925547|PMID:27004616|PMID:27942854|PMID:28492532|PMID:30212996|PMID:30996265|PMID:32581362 11716459 CRB2 crumbs cell polarity complex component 2 gene DOID:10584 retinitis pigmentosa ISO RGD:1551852 D RGD:9068941 20200609 RGD PMID:24493795|REF_RGD_ID:8552786 11716459 CRB2 crumbs cell polarity complex component 2 gene DOID:10584 retinitis pigmentosa ISO RGD:1551852 D RGD:9068941 20220825 MouseDO OMIM:268000 11716459 CRB2 crumbs cell polarity complex component 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1347869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11716459 CRB2 crumbs cell polarity complex component 2 gene DOID:14791 Leber congenital amaurosis ISO RGD:1551852 D RGD:9068941 20200609 RGD PMID:24339791|REF_RGD_ID:8552784 11716459 CRB2 crumbs cell polarity complex component 2 gene DOID:630 genetic disease ISO RGD:1347869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19344873|PMID:25557779|PMID:25741868|PMID:27004616|PMID:27535533|PMID:27942854|PMID:28492532|PMID:30212996|PMID:32581362 11716476 PCTP phosphatidylcholine transfer protein gene DOID:630 genetic disease ISO RGD:1353620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11716497 GJC1 gap junction protein gamma 1 gene DOID:10763 hypertension ISO RGD:1350984 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19109587 11716497 GJC1 gap junction protein gamma 1 gene DOID:630 genetic disease ISO RGD:1350984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11716509 MYO3B myosin IIIB gene DOID:630 genetic disease ISO RGD:1352249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11716554 OCSTAMP osteoclast stimulatory transmembrane protein gene DOID:2234 focal epilepsy ISO RGD:1352743 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11716554 OCSTAMP osteoclast stimulatory transmembrane protein gene DOID:630 genetic disease ISO RGD:1352743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11716561 SLC4A8 solute carrier family 4 member 8 gene DOID:11716 prediabetes syndrome ISO RGD:735164 D RGD:9068941 20200609 RGD PMID:24105628|REF_RGD_ID:9999379 11716561 SLC4A8 solute carrier family 4 member 8 gene DOID:630 genetic disease ISO RGD:1346907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11716597 ESYT1 extended synaptotagmin 1 gene DOID:630 genetic disease ISO RGD:733690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11716639 SUDS3 SDS3 homolog, SIN3A corepressor complex component gene DOID:630 genetic disease ISO RGD:1605050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11716657 DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic gene DOID:0080557 congenital disorder of glycosylation Ie ISO RGD:1320840 D RGD:7240710 20180130 OMIM 11716657 DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic gene DOID:0080557 congenital disorder of glycosylation Ie ISO RGD:1320840 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1E PMID:10642597|PMID:10642602|PMID:15669674|PMID:15771971|PMID:16199547|PMID:16641202|PMID:17576681|PMID:23856421|PMID:25640679|PMID:25741868|PMID:26729507|PMID:27481510|PMID:28492532|PMID:30653653|PMID:34015165|PMID:9536098 11716657 DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic gene DOID:1059 intellectual disability ISO RGD:1320840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11716657 DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic gene DOID:5212 congenital disorder of glycosylation ISO RGD:1320840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 11716657 DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic gene DOID:630 genetic disease ISO RGD:1320840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10642597|PMID:10642602|PMID:23856421|PMID:25741868|PMID:28492532 11716688 COBL cordon-bleu WH2 repeat protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11716688 COBL cordon-bleu WH2 repeat protein gene DOID:630 genetic disease ISO RGD:1323755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11716710 GFAP glial fibrillary acidic protein gene DOID:0060041 autism spectrum disorder ISO RGD:619574 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11716710 GFAP glial fibrillary acidic protein gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 11716710 GFAP glial fibrillary acidic protein gene DOID:0060249 scoliosis ISO RGD:619574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis 11716710 GFAP glial fibrillary acidic protein gene DOID:0080600 COVID-19 ISO RGD:619574 D RGD:9068941 20210618 RGD protein:increased expression:serum (human) PMID:33743046|REF_RGD_ID:127284892 11716710 GFAP glial fibrillary acidic protein gene DOID:0080600 COVID-19 disease_progression ISO RGD:619574 D RGD:9068941 20210625 RGD protein:increased expression:plasma (human) PMID:32546655|REF_RGD_ID:127284882 11716710 GFAP glial fibrillary acidic protein gene DOID:0110345 osteogenesis imperfecta type 16 ISO RGD:619574 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 16 PMID:11567214|PMID:12034785|PMID:15477559|PMID:15732097|PMID:16217707|PMID:16505300|PMID:17318298|PMID:17629821|PMID:17894839|PMID:18079314|PMID:19484233|PMID:21533827|PMID:25741868|PMID:26208460|PMID:26467025|PMID:26478912|PMID:26743065|PMID:28492532|PMID:30628038 11716710 GFAP glial fibrillary acidic protein gene DOID:0110621 primary ciliary dyskinesia 17 ISO RGD:619574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 17 11716710 GFAP glial fibrillary acidic protein gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 11716710 GFAP glial fibrillary acidic protein gene DOID:12098 trigeminal neuralgia ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 11716710 GFAP glial fibrillary acidic protein gene DOID:12217 Lewy body dementia ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 11716710 GFAP glial fibrillary acidic protein gene DOID:14330 Parkinson's disease ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 11716710 GFAP glial fibrillary acidic protein gene DOID:1826 epilepsy ISO RGD:619574 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11716710 GFAP glial fibrillary acidic protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11723166 11716710 GFAP glial fibrillary acidic protein gene DOID:4252 Alexander disease ISO RGD:619574 D RGD:7240710 20180130 OMIM 11716710 GFAP glial fibrillary acidic protein gene DOID:4252 Alexander disease ISO RGD:619574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alexander disease PMID:11138011|PMID:11398833|PMID:11567214|PMID:11587071|PMID:11595337|PMID:11867077|PMID:12026242|PMID:12034785|PMID:12034796|PMID:12368989|PMID:12447932|PMID:12509855|PMID:12581808|PMID:12638020|PMID:12944715|PMID:12975300|PMID:14550921|PMID:14557587|PMID:15030911|PMID:15390001|PMID:15465095|PMID:15477559|PMID:15675360|PMID:15696488|PMID:15732097|PMID:15732098|PMID:15840648|PMID:16168593|PMID:16168595|PMID:16217707|PMID:16240361|PMID:16505300|PMID:16826512|PMID:16996408|PMID:17043438|PMID:17065456|PMID:17110673|PMID:17156703|PMID:17318298|PMID:17383133|PMID:17438228|PMID:17509491|PMID:17629821|PMID:17703343|PMID:17805552|PMID:17894839|PMID:17934883|PMID:17960815|PMID:17985264|PMID:18054694|PMID:18079314|PMID:18217876|PMID:18388212|PMID:18402384|PMID:18495313|PMID:18581469|PMID:18584981|PMID:18653683|PMID:18684770|PMID:19128991|PMID:19386454|PMID:1941292|PMID:19418047|PMID:19444543|PMID:19484233|PMID:19618846|PMID:19672978|PMID:19948199|PMID:20301351|PMID:20448479|PMID:20562394|PMID:20849398|PMID:21041050|PMID:21132324|PMID:21165639|PMID:21270471|PMID:21533827|PMID:21572052|PMID:21756903|PMID:21822933|PMID:219025661|PMID:21917775|PMID:21940697|PMID:21987397|PMID:22140645|PMID:22198646|PMID:22302460|PMID:22488673|PMID:22566711|PMID:22619055|PMID:22818990|PMID:23149175|PMID:23185175|PMID:23254569|PMID:23364391|PMID:23430549|PMID:23432455|PMID:23634874|PMID:23706596|PMID:23743246|PMID:23903069|PMID:23925719|PMID:24045243|PMID:24188966|PMID:24306001|PMID:24427505|PMID:24742911|PMID:24755947|PMID:25741868|PMID:25997626|PMID:26208460|PMID:26285664|PMID:26467025|PMID:26478912|PMID:26486469|PMID:26743065|PMID:27468269|PMID:27648269|PMID:27814755|PMID:28492532|PMID:28882119|PMID:28953922|PMID:29421207|PMID:29431177|PMID:30048824|PMID:30213442|PMID:30355500|PMID:30628038|PMID:31484723|PMID:31611638|PMID:31942421|PMID:31956193|PMID:32126152|PMID:34146839|PMID:34245630 11716710 GFAP glial fibrillary acidic protein gene DOID:4724 brain edema ISO RGD:2679 D RGD:9068941 20200609 RGD associated with Embolism, Fat;protein:increased expression:brain PMID:20111877|REF_RGD_ID:5490129 11716710 GFAP glial fibrillary acidic protein gene DOID:5679 retinal disease ISO RGD:2679 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:18836575|REF_RGD_ID:5490154 11716710 GFAP glial fibrillary acidic protein gene DOID:574 peripheral nervous system disease ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10447555 11716710 GFAP glial fibrillary acidic protein gene DOID:630 genetic disease ISO RGD:619574 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11138011|PMID:11398833|PMID:12034785|PMID:14550921|PMID:15390001|PMID:15732097|PMID:16505300|PMID:16826512|PMID:17894839|PMID:18388212|PMID:18684770|PMID:21756903|PMID:22140645|PMID:24742911|PMID:25741868|PMID:26467025|PMID:27814755|PMID:28492532|PMID:30213442|PMID:30355500|PMID:31484723|PMID:31611638 11716710 GFAP glial fibrillary acidic protein gene DOID:863 nervous system disease ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10773198|PMID:9427479|PMID:9634552 11716710 GFAP glial fibrillary acidic protein gene DOID:8869 neuromyelitis optica ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18509235 11716710 GFAP glial fibrillary acidic protein gene DOID:9000039 Spinal Cord Injuries ISO RGD:10633 D RGD:9068941 20200609 RGD PMID:10225952|REF_RGD_ID:6480471 11716710 GFAP glial fibrillary acidic protein gene DOID:9000039 Spinal Cord Injuries ISO RGD:2679 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:21250919|REF_RGD_ID:6480511 11716710 GFAP glial fibrillary acidic protein gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2679 D RGD:9068941 20210122 RGD PMID:24968269|REF_RGD_ID:40924652 11716710 GFAP glial fibrillary acidic protein gene DOID:9001036 Penetrating Head Injuries ISO RGD:10633 D RGD:9068941 20200609 RGD PMID:10225952|REF_RGD_ID:6480471 11716710 GFAP glial fibrillary acidic protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2679 D RGD:9068941 20220520 RGD associated with Schistosomiasis Japonica; mRNA:decreased expression:liver (rat) PMID:29323718|REF_RGD_ID:38599216 11716710 GFAP glial fibrillary acidic protein gene DOID:9002211 Hyperalgesia ISO RGD:2679 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries;mRNA,protein:increased expression:brain,spinal cord: PMID:16219025|REF_RGD_ID:8695957 11716710 GFAP glial fibrillary acidic protein gene DOID:9002211 Hyperalgesia ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 11716710 GFAP glial fibrillary acidic protein gene DOID:9003919 Urination Disorders ISO RGD:2679 D RGD:9068941 20200609 RGD associated with spinal cord injuries PMID:21250919|REF_RGD_ID:6480511 11716710 GFAP glial fibrillary acidic protein gene DOID:9006008 Closed Head Injuries ISO RGD:2679 D RGD:9068941 20200609 RGD PMID:8833197|REF_RGD_ID:6480531 11716710 GFAP glial fibrillary acidic protein gene DOID:9006205 Animal Disease Models ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 11716710 GFAP glial fibrillary acidic protein gene DOID:9007096 Stroke severity ISO RGD:619574 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:19959621|REF_RGD_ID:5508793 11716710 GFAP glial fibrillary acidic protein gene DOID:9007402 Gliosis ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12183020 11716710 GFAP glial fibrillary acidic protein gene DOID:9007921 Spina Bifida Cystica ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8422324 11716710 GFAP glial fibrillary acidic protein gene DOID:9009131 Ventriculomegaly ISO RGD:619574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive ventriculomegaly PMID:25741868 11716710 GFAP glial fibrillary acidic protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:619574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 11716729 PLCB4 phospholipase C beta 4 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:733727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 11716729 PLCB4 phospholipase C beta 4 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:733727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 11716729 PLCB4 phospholipase C beta 4 gene DOID:10283 prostate cancer ISO RGD:733727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11716729 PLCB4 phospholipase C beta 4 gene DOID:1909 melanoma ISO RGD:733727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 11716729 PLCB4 phospholipase C beta 4 gene DOID:2843 long QT syndrome ISO RGD:733727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11716729 PLCB4 phospholipase C beta 4 gene DOID:6039 uveal melanoma ISO RGD:733727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uveal melanoma PMID:31186267 11716729 PLCB4 phospholipase C beta 4 gene DOID:630 genetic disease ISO RGD:733727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16114046|PMID:22560091|PMID:23315542|PMID:25741868|PMID:31186267|PMID:31395954|PMID:33258288 11716729 PLCB4 phospholipase C beta 4 gene DOID:9000208 Auriculocondylar Syndrome ISO RGD:733727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Auriculocondylar syndrome PMID:16114046|PMID:22560091|PMID:23315542 11716729 PLCB4 phospholipase C beta 4 gene DOID:9002492 Auriculocondylar Syndrome 1 ISO RGD:733727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Auriculocondylar syndrome 1 PMID:16114046|PMID:18314001|PMID:22560091|PMID:23315542 11716729 PLCB4 phospholipase C beta 4 gene DOID:9006036 Auriculocondylar Syndrome 2 ISO RGD:733727 D RGD:7240710 20180130 OMIM 11716729 PLCB4 phospholipase C beta 4 gene DOID:9006036 Auriculocondylar Syndrome 2 ISO RGD:733727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Auriculocondylar syndrome 2 PMID:16114046|PMID:18314001|PMID:18680186|PMID:18686566|PMID:19152421|PMID:22286465|PMID:22560091|PMID:23315542|PMID:25741868|PMID:28492532|PMID:31186267|PMID:31395954|PMID:33258288 11716729 PLCB4 phospholipase C beta 4 gene DOID:9245 Alagille syndrome ISO RGD:733727 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:28492532|PMID:32733715 11716778 KLF14 KLF transcription factor 14 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11716778 KLF14 KLF transcription factor 14 gene DOID:630 genetic disease ISO RGD:1343776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11716778 KLF14 KLF transcription factor 14 gene DOID:9003370 Dyslipidemias ISO RGD:1343776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29632379 11716778 KLF14 KLF transcription factor 14 gene DOID:9007692 Insulin Resistance ISO RGD:1343776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29632379 11716778 KLF14 KLF transcription factor 14 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29632379 11716782 LHFPL3 LHFPL tetraspan subfamily member 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11716782 LHFPL3 LHFPL tetraspan subfamily member 3 gene DOID:630 genetic disease ISO RGD:1349891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11716786 TFPT TCF3 fusion partner gene DOID:10584 retinitis pigmentosa ISO RGD:733579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant 11716786 TFPT TCF3 fusion partner gene DOID:630 genetic disease ISO RGD:733579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11716801 ZBTB2 zinc finger and BTB domain containing 2 gene DOID:630 genetic disease ISO RGD:1315344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11716825 NYX nyctalopin gene DOID:0050534 congenital stationary night blindness ISO RGD:1350886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness | ClinVar Annotator: match by term: X-linked congenital stationary night blindness PMID:25307992|PMID:28492532|PMID:31456290 11716825 NYX nyctalopin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11716825 NYX nyctalopin gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1350886 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 11716825 NYX nyctalopin gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1350886 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 11716825 NYX nyctalopin gene DOID:0110870 congenital stationary night blindness 1A ISO RGD:1350886 D RGD:7240710 20180130 OMIM 11716825 NYX nyctalopin gene DOID:0110870 congenital stationary night blindness 1A ISO RGD:1350886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1A PMID:11062471|PMID:11062472|PMID:16670814|PMID:17392683|PMID:19578023|PMID:23406521|PMID:25741868|PMID:28492532 11716825 NYX nyctalopin gene DOID:10584 retinitis pigmentosa ISO RGD:1350886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868 11716825 NYX nyctalopin gene DOID:12849 autistic disorder ISO RGD:1350886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11716825 NYX nyctalopin gene DOID:630 genetic disease ISO RGD:1350886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11716825 NYX nyctalopin gene DOID:8499 night blindness susceptibility ISO RGD:1350886 D RGD:9068941 20200609 RGD Congenital stationary night blindness type1A, OMIM:310500;DNA:mutations PMID:11062471|REF_RGD_ID:1601021 11716825 NYX nyctalopin gene DOID:8501 fundus dystrophy ISO RGD:1350886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11062471|PMID:19578023|PMID:25741868|PMID:28492532 11716825 NYX nyctalopin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11716825 NYX nyctalopin gene DOID:9008296 Eye Abnormalities ISO RGD:1350886 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:28041643 11716830 C17H17orf107 chromosome 17 C17orf107 homolog gene DOID:0050941 spastic ataxia 2 ISO RGD:3051040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 11716830 C17H17orf107 chromosome 17 C17orf107 homolog gene DOID:0110662 congenital myasthenic syndrome 1B ISO RGD:3051040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 1B, fast-channel PMID:17878953|PMID:26467025|PMID:28492532|PMID:8755487 11716830 C17H17orf107 chromosome 17 C17orf107 homolog gene DOID:0110663 congenital myasthenic syndrome 1A ISO RGD:3051040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic slow-channel PMID:20301347|PMID:20562457|PMID:22678886|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29054425|PMID:29383513|PMID:9708546 11716830 C17H17orf107 chromosome 17 C17orf107 homolog gene DOID:0110677 congenital myasthenic syndrome 4B ISO RGD:3051040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4B | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4b, fast-channel PMID:10211467|PMID:10382905|PMID:11960891|PMID:12417530|PMID:17878953|PMID:19544078|PMID:20301347|PMID:20562457|PMID:21940170|PMID:22592360|PMID:22678886|PMID:24033266|PMID:24295813|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29054425|PMID:29189923|PMID:29383513|PMID:31980526|PMID:8232384|PMID:8663316|PMID:8755487|PMID:9158150|PMID:9606190|PMID:9708546 11716830 C17H17orf107 chromosome 17 C17orf107 homolog gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:3051040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel PMID:10211467|PMID:10382905|PMID:11960891|PMID:12034803|PMID:12141316|PMID:12356851|PMID:12417530|PMID:12536367|PMID:14532324|PMID:14592868|PMID:15145336|PMID:16061559|PMID:16198106|PMID:16199547|PMID:17576681|PMID:17878953|PMID:18414213|PMID:19153382|PMID:19289485|PMID:19544078|PMID:20157724|PMID:20301347|PMID:20562457|PMID:21150643|PMID:21520333|PMID:21822932|PMID:21940170|PMID:22178625|PMID:22382357|PMID:22678886|PMID:24033266|PMID:24295813|PMID:25640679|PMID:25741868|PMID:26284228|PMID:26467025|PMID:27717316|PMID:27779167|PMID:28464723|PMID:28492532|PMID:29054425|PMID:29189923|PMID:29367459|PMID:29383513|PMID:29702980|PMID:30124556|PMID:30542963|PMID:30931400|PMID:31773638|PMID:31980526|PMID:32721234|PMID:3651795|PMID:7531341|PMID:7538206|PMID:7863154|PMID:8232384|PMID:8663316|PMID:8755487|PMID:8872460|PMID:9158150|PMID:9536098|PMID:9539130|PMID:9606190|PMID:9708546 11716830 C17H17orf107 chromosome 17 C17orf107 homolog gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:3051040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic, associated with acetylcholine receptor deficiency PMID:10211467|PMID:11030414|PMID:12417530|PMID:16087917|PMID:17576681|PMID:17878953|PMID:19544078|PMID:20301347|PMID:20562457|PMID:21940170|PMID:22678886|PMID:24033266|PMID:24295813|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29054425|PMID:29189923|PMID:29383513|PMID:31980526|PMID:8755487|PMID:9158150|PMID:9536098|PMID:9708546 11716830 C17H17orf107 chromosome 17 C17orf107 homolog gene DOID:3635 congenital myasthenic syndrome ISO RGD:3051040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital PMID:12141316|PMID:12417530|PMID:12536367|PMID:16199547|PMID:17576681|PMID:17878953|PMID:18414213|PMID:19153382|PMID:19544078|PMID:20157724|PMID:20301347|PMID:20562457|PMID:21150643|PMID:21940170|PMID:22382357|PMID:22678886|PMID:24033266|PMID:24295813|PMID:25741868|PMID:26284228|PMID:26467025|PMID:27717316|PMID:28464723|PMID:28492532|PMID:29054425|PMID:29189923|PMID:29383513|PMID:31980526|PMID:8755487|PMID:9158150|PMID:9536098|PMID:9539130|PMID:9708546 11716830 C17H17orf107 chromosome 17 C17orf107 homolog gene DOID:630 genetic disease ISO RGD:3051040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11716842 LTBP4 latent transforming growth factor beta binding protein 4 gene DOID:0070139 autosomal recessive cutis laxa type IC ISO RGD:1315988 D RGD:7240710 20180130 OMIM 11716842 LTBP4 latent transforming growth factor beta binding protein 4 gene DOID:0070139 autosomal recessive cutis laxa type IC ISO RGD:1315988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type IC PMID:16199547|PMID:19836010|PMID:22829427|PMID:24033266|PMID:25741868|PMID:25882708|PMID:28492532|PMID:31115174|PMID:35972031 11716842 LTBP4 latent transforming growth factor beta binding protein 4 gene DOID:0080600 COVID-19 ISO RGD:1315988 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11716842 LTBP4 latent transforming growth factor beta binding protein 4 gene DOID:0080736 Ehlers-Danlos syndrome musculocontractural type 1 ISO RGD:1315988 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 1 PMID:25741868 11716842 LTBP4 latent transforming growth factor beta binding protein 4 gene DOID:114 heart disease ISO RGD:1315989 D RGD:9068941 20200609 RGD PMID:12208849|REF_RGD_ID:1582112 11716842 LTBP4 latent transforming growth factor beta binding protein 4 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1315988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11716842 LTBP4 latent transforming growth factor beta binding protein 4 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1315988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11716842 LTBP4 latent transforming growth factor beta binding protein 4 gene DOID:2340 craniosynostosis ISO RGD:1315988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11716842 LTBP4 latent transforming growth factor beta binding protein 4 gene DOID:3068 glioblastoma ISO RGD:1315988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27270107 11716842 LTBP4 latent transforming growth factor beta binding protein 4 gene DOID:3144 cutis laxa ISO RGD:1315988 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cutis laxa 11716842 LTBP4 latent transforming growth factor beta binding protein 4 gene DOID:630 genetic disease ISO RGD:1315988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11716842 LTBP4 latent transforming growth factor beta binding protein 4 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1315988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11716842 LTBP4 latent transforming growth factor beta binding protein 4 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1315988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27270107 11716842 LTBP4 latent transforming growth factor beta binding protein 4 gene DOID:9269 maple syrup urine disease ISO RGD:1315988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11716902 CRABP1 cellular retinoic acid binding protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1345653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11716902 CRABP1 cellular retinoic acid binding protein 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1345653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17438526 11716902 CRABP1 cellular retinoic acid binding protein 1 gene DOID:4450 renal cell carcinoma ISO RGD:1345653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16254461 11716902 CRABP1 cellular retinoic acid binding protein 1 gene DOID:630 genetic disease ISO RGD:1345653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11716902 CRABP1 cellular retinoic acid binding protein 1 gene DOID:9000058 Keloid ISO RGD:1345653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 11716902 CRABP1 cellular retinoic acid binding protein 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1345653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11716902 CRABP1 cellular retinoic acid binding protein 1 gene DOID:9256 colorectal cancer ISO RGD:1345653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11716911 BAIAP3 BAI1 associated protein 3 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1318052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 11716911 BAIAP3 BAI1 associated protein 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1318052 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11716911 BAIAP3 BAI1 associated protein 3 gene DOID:1826 epilepsy ISO RGD:1318052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11716911 BAIAP3 BAI1 associated protein 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1318052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11716911 BAIAP3 BAI1 associated protein 3 gene DOID:2843 long QT syndrome ISO RGD:1318052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11716911 BAIAP3 BAI1 associated protein 3 gene DOID:630 genetic disease ISO RGD:1318052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11716949 KLF15 KLF transcription factor 15 gene DOID:12932 endomyocardial fibrosis ISO RGD:737261 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34310909 11716949 KLF15 KLF transcription factor 15 gene DOID:3627 aortic aneurysm ISO RGD:737262 D RGD:9068941 20220825 MouseDO 11716949 KLF15 KLF transcription factor 15 gene DOID:630 genetic disease ISO RGD:737261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11716949 KLF15 KLF transcription factor 15 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737261 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11716949 KLF15 KLF transcription factor 15 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:737261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 11716949 KLF15 KLF transcription factor 15 gene DOID:9270 alkaptonuria ISO RGD:737261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11716956 WDR38 WD repeat domain 38 gene DOID:630 genetic disease ISO RGD:1625454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11716980 FGA fibrinogen alpha chain gene DOID:0050636 familial visceral amyloidosis ISO RGD:737209 D RGD:7240710 20180130 OMIM 11716980 FGA fibrinogen alpha chain gene DOID:0050636 familial visceral amyloidosis ISO RGD:737209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AFib amyloidosis | ClinVar Annotator: match by term: Amyloidosis 8 | ClinVar Annotator: match by term: Familial visceral amyloidosis PMID:10887149|PMID:10891444|PMID:10910940|PMID:12050338|PMID:12871326|PMID:14615374|PMID:16362348|PMID:16651864|PMID:17576681|PMID:17982313|PMID:19109585|PMID:19420351|PMID:19468208|PMID:22880226|PMID:237956|PMID:25741868|PMID:25816717|PMID:26763372|PMID:2738154|PMID:27684817|PMID:28101869|PMID:28211264|PMID:28492532|PMID:30332696|PMID:30349899|PMID:31064749|PMID:31924745|PMID:32166693|PMID:32877852|PMID:3345340|PMID:33668986|PMID:34355501|PMID:3590111|PMID:3618591|PMID:4052020|PMID:6191801|PMID:7298640|PMID:8097946|PMID:8113408|PMID:8473507|PMID:8636415|PMID:8639778|PMID:8944230|PMID:9389696|PMID:9536098 11716980 FGA fibrinogen alpha chain gene DOID:0060903 thrombosis ISO RGD:737209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8473507 11716980 FGA fibrinogen alpha chain gene DOID:0112313 brain small vessel disease ISO RGD:737209 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotypes PMID:17951283|REF_RGD_ID:5688761 11716980 FGA fibrinogen alpha chain gene DOID:10126 keratoconus ISO RGD:737209 D RGD:9068941 20200609 RGD protein:decreased expression:tear (human) PMID:24194634|REF_RGD_ID:11040557 11716980 FGA fibrinogen alpha chain gene DOID:11247 disseminated intravascular coagulation ISO RGD:2603 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (rat) PMID:23538169|REF_RGD_ID:10755508 11716980 FGA fibrinogen alpha chain gene DOID:11247 disseminated intravascular coagulation treatment ISO RGD:2603 D RGD:9068941 20200609 RGD PMID:22800895|REF_RGD_ID:10755509 11716980 FGA fibrinogen alpha chain gene DOID:11476 osteoporosis ISO RGD:737209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 11716980 FGA fibrinogen alpha chain gene DOID:13580 cholestasis ISO RGD:737209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20974703 11716980 FGA fibrinogen alpha chain gene DOID:1588 thrombocytopenia ISO RGD:737209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:28492532 11716980 FGA fibrinogen alpha chain gene DOID:1588 thrombocytopenia treatment ISO RGD:2603 D RGD:9068941 20200609 RGD PMID:2005585|REF_RGD_ID:10755505 11716980 FGA fibrinogen alpha chain gene DOID:2213 hemorrhagic disease ISO RGD:737209 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:17982313|PMID:22880226|PMID:237956|PMID:25741868|PMID:25816717|PMID:2738154|PMID:27684817|PMID:28101869|PMID:28211264|PMID:28492532|PMID:30332696|PMID:31064749|PMID:31924745|PMID:32166693|PMID:32877852|PMID:3345340|PMID:33668986|PMID:3590111|PMID:3618591|PMID:4052020|PMID:6191801|PMID:7298640 11716980 FGA fibrinogen alpha chain gene DOID:2236 congenital afibrinogenemia ISO RGD:737209 D RGD:7240710 20180130 OMIM 11716980 FGA fibrinogen alpha chain gene DOID:2236 congenital afibrinogenemia ISO RGD:737209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Hypofibrinogenemia PMID:10602365|PMID:10605955|PMID:10887149|PMID:10891444|PMID:10910940|PMID:12050338|PMID:12358944|PMID:12871326|PMID:14615374|PMID:16362348|PMID:16651864|PMID:17576681|PMID:17982313|PMID:19109585|PMID:19420351|PMID:19468208|PMID:22880226|PMID:237956|PMID:23852822|PMID:25320241|PMID:25741868|PMID:25816717|PMID:26006300|PMID:26577257|PMID:26763372|PMID:27164460|PMID:2738154|PMID:27684817|PMID:28101869|PMID:28211264|PMID:28492532|PMID:30332696|PMID:30349899|PMID:30856382|PMID:31064749|PMID:31314131|PMID:31924745|PMID:32166693|PMID:32877852|PMID:3345340|PMID:33668986|PMID:34355501|PMID:3590111|PMID:3618591|PMID:4052020|PMID:6191801|PMID:7298640|PMID:8113408|PMID:8473507|PMID:8636415|PMID:8944230|PMID:9536098 11716980 FGA fibrinogen alpha chain gene DOID:2316 brain ischemia treatment ISO RGD:2603 D RGD:9068941 20200609 RGD PMID:22737923|REF_RGD_ID:11040923 11716980 FGA fibrinogen alpha chain gene DOID:2452 thrombophilia ISO RGD:737209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8473507 11716980 FGA fibrinogen alpha chain gene DOID:2452 thrombophilia ISO RGD:737209 D RGD:9068941 20200609 RGD DNA:polymorphism:p.T312A (human) PMID:10910940|REF_RGD_ID:1601167 11716980 FGA fibrinogen alpha chain gene DOID:2841 asthma treatment ISO RGD:2603 D RGD:9068941 20200609 RGD PMID:24523826|REF_RGD_ID:11040539 11716980 FGA fibrinogen alpha chain gene DOID:3021 acute kidney failure ISO RGD:2603 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:15805072|REF_RGD_ID:9685024 11716980 FGA fibrinogen alpha chain gene DOID:4989 pancreatitis ISO RGD:2603 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, rough endoplasmic reticulum PMID:19954227|REF_RGD_ID:5688770 11716980 FGA fibrinogen alpha chain gene DOID:557 kidney disease ISO RGD:737209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8097946|PMID:8639778 11716980 FGA fibrinogen alpha chain gene DOID:630 genetic disease ISO RGD:737209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11716980 FGA fibrinogen alpha chain gene DOID:684 hepatocellular carcinoma ISO RGD:737209 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 11716980 FGA fibrinogen alpha chain gene DOID:8778 Crohn's disease ISO RGD:737209 D RGD:9068941 20200609 RGD PMID:19683480|REF_RGD_ID:5688758 11716980 FGA fibrinogen alpha chain gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2603 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:23503399|REF_RGD_ID:9685021 11716980 FGA fibrinogen alpha chain gene DOID:9003464 Congenital Dysfibrinogenemia ISO RGD:737209 D RGD:7240710 20180130 OMIM 11716980 FGA fibrinogen alpha chain gene DOID:9003464 Congenital Dysfibrinogenemia ISO RGD:737209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dysfibrinogenemia | ClinVar Annotator: match by term: Dysfibrinogenemia, congenital | ClinVar Annotator: match by term: FIBRINOGEN AARHUS 1 | ClinVar Annotator: match by term: FIBRINOGEN CARACAS 2 PMID:10605955|PMID:10887149|PMID:10891444|PMID:11435303|PMID:11460527|PMID:12050338|PMID:14615374|PMID:15795544|PMID:16651864|PMID:1675636|PMID:16846481|PMID:17576681|PMID:17982313|PMID:19109585|PMID:1912564|PMID:19468208|PMID:22880226|PMID:22967385|PMID:237956|PMID:23852822|PMID:25320241|PMID:25741868|PMID:25816717|PMID:25981141|PMID:26006300|PMID:26577257|PMID:26676819|PMID:26763372|PMID:2738154|PMID:27684817|PMID:28101869|PMID:28211264|PMID:28492532|PMID:30332696|PMID:30349899|PMID:30856382|PMID:31064749|PMID:31314131|PMID:31924745|PMID:32166693|PMID:32877852|PMID:3345340|PMID:33668986|PMID:34355501|PMID:3590111|PMID:3618591|PMID:3667568|PMID:4052020|PMID:4082078|PMID:6191801|PMID:6667926|PMID:7298640|PMID:8113408|PMID:8140431|PMID:8457654|PMID:8473507|PMID:8636415|PMID:8944230|PMID:9536098 11716980 FGA fibrinogen alpha chain gene DOID:9003505 Venous Thromboembolism ISO RGD:737209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Venous thromboembolism, susceptibility to PMID:10910940|PMID:16362348|PMID:25741868 11716980 FGA fibrinogen alpha chain gene DOID:9003871 Venous Thrombosis ISO RGD:737209 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deep vein thrombosis PMID:25741868|PMID:34355501|PMID:8473507|PMID:8636415 11716980 FGA fibrinogen alpha chain gene DOID:9004484 Sepsis ISO RGD:2603 D RGD:9068941 20200609 RGD protein:decreased expression:serum (rat) PMID:24667622|REF_RGD_ID:9685020 11716980 FGA fibrinogen alpha chain gene DOID:9004492 Familial Amyloidosis ISO RGD:737209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8097946|PMID:8639778 11716980 FGA fibrinogen alpha chain gene DOID:9004492 Familial Amyloidosis ISO RGD:737209 D RGD:9068941 20200609 RGD renal amyloidosis,OMIM:105200;DNA:point mutation:exon:p.R554L (human) PMID:8097946|REF_RGD_ID:1601166 11716980 FGA fibrinogen alpha chain gene DOID:9004590 Acute Liver Failure treatment ISO RGD:2603 D RGD:9068941 20200609 RGD PMID:24799907|REF_RGD_ID:11040538 11716980 FGA fibrinogen alpha chain gene DOID:9004610 Acute Lung Injury ISO RGD:2603 D RGD:9068941 20200609 RGD protein:increased expression:blood (rat) PMID:22804886|REF_RGD_ID:7387313 11716980 FGA fibrinogen alpha chain gene DOID:9004929 Congenital Hypodysfibrinogenemia ISO RGD:737209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FIBRINOGEN ROUEN 1 | ClinVar Annotator: match by term: Hypodysfibrinogenemia, congenital PMID:10891444|PMID:11914657|PMID:14615374|PMID:17576681|PMID:25320241|PMID:25741868|PMID:2742828|PMID:28492532|PMID:30349899|PMID:31064749|PMID:31583746|PMID:4084461|PMID:6575689|PMID:9536098 11716980 FGA fibrinogen alpha chain gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2603 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:23086277|REF_RGD_ID:9684989 11716980 FGA fibrinogen alpha chain gene DOID:9005930 Endotoxemia treatment ISO RGD:2603 D RGD:9068941 20200609 RGD PMID:19295478|REF_RGD_ID:11040925 11716980 FGA fibrinogen alpha chain gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2603 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney PMID:21685370|REF_RGD_ID:7175292 11716980 FGA fibrinogen alpha chain gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15805072 11716980 FGA fibrinogen alpha chain gene DOID:9007096 Stroke ISO RGD:737209 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868 11716980 FGA fibrinogen alpha chain gene DOID:9007364 Mouth Neoplasms ISO RGD:737209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16239339 11716980 FGA fibrinogen alpha chain gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20974703 11716980 FGA fibrinogen alpha chain gene DOID:9007730 Burns ISO RGD:2603 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:20664819|REF_RGD_ID:5131457 11716980 FGA fibrinogen alpha chain gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:737209 D RGD:9068941 20200609 RGD PMID:21887273|REF_RGD_ID:5688767 11716980 FGA fibrinogen alpha chain gene DOID:9352 type 2 diabetes mellitus ISO RGD:737209 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:7974333|REF_RGD_ID:2312416 11716980 FGA fibrinogen alpha chain gene DOID:9477 pulmonary embolism ISO RGD:2603 D RGD:9068941 20200609 RGD protein:increased expression:blood microparticle PMID:22014850|REF_RGD_ID:5688769 11716980 FGA fibrinogen alpha chain gene DOID:9477 pulmonary embolism ISO RGD:737209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10910940 11716980 FGA fibrinogen alpha chain gene DOID:9675 pulmonary emphysema ISO RGD:2603 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:20949089|REF_RGD_ID:11040553 11716980 FGA fibrinogen alpha chain gene DOID:9952 acute lymphoblastic leukemia ISO RGD:737209 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:25317080|REF_RGD_ID:11040558 11716995 PSMB2 proteasome 20S subunit beta 2 gene DOID:0080600 COVID-19 ISO RGD:732759 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11716995 PSMB2 proteasome 20S subunit beta 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:732759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11716995 PSMB2 proteasome 20S subunit beta 2 gene DOID:11054 urinary bladder cancer ISO RGD:732759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 11716995 PSMB2 proteasome 20S subunit beta 2 gene DOID:630 genetic disease ISO RGD:732759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11717005 ZCCHC18 zinc finger CCHC-type containing 18 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:2291777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11717005 ZCCHC18 zinc finger CCHC-type containing 18 gene DOID:12849 autistic disorder ISO RGD:2291777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11717005 ZCCHC18 zinc finger CCHC-type containing 18 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:2291777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:1720927|PMID:9633722|PMID:9634530 11717005 ZCCHC18 zinc finger CCHC-type containing 18 gene DOID:630 genetic disease ISO RGD:2291777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11717044 GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1351197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11717044 GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 gene DOID:630 genetic disease ISO RGD:1351197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11717044 GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 gene DOID:9001924 RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE ISO RGD:1351197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE PMID:32591345 11717044 GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 gene DOID:9006205 Animal Disease Models ISO RGD:1351197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11717057 TUBGCP5 tubulin gamma complex associated protein 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1312280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21187176|PMID:21844811|PMID:23044707|PMID:23495136|PMID:25255310|PMID:25741868|PMID:27569545 11717057 TUBGCP5 tubulin gamma complex associated protein 5 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1312280 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome PMID:31690835 11717057 TUBGCP5 tubulin gamma complex associated protein 5 gene DOID:0110811 hereditary spastic paraplegia 6 ISO RGD:1312280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 PMID:17268193|PMID:23032108|PMID:25689425|PMID:28492532 11717057 TUBGCP5 tubulin gamma complex associated protein 5 gene DOID:1059 intellectual disability ISO RGD:1312280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11717057 TUBGCP5 tubulin gamma complex associated protein 5 gene DOID:10907 microcephaly ISO RGD:1312280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11717057 TUBGCP5 tubulin gamma complex associated protein 5 gene DOID:12849 autistic disorder ISO RGD:1312280 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 11717057 TUBGCP5 tubulin gamma complex associated protein 5 gene DOID:1932 Angelman syndrome ISO RGD:1312280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome 11717057 TUBGCP5 tubulin gamma complex associated protein 5 gene DOID:5419 schizophrenia ISO RGD:1312280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11717057 TUBGCP5 tubulin gamma complex associated protein 5 gene DOID:630 genetic disease ISO RGD:1312280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11717057 TUBGCP5 tubulin gamma complex associated protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 11717092 INF2 inverted formin 2 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1343033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11717092 INF2 inverted formin 2 gene DOID:0110205 Charcot-Marie-Tooth disease dominant intermediate E ISO RGD:1343033 D RGD:7240710 20180130 OMIM 11717092 INF2 inverted formin 2 gene DOID:0110205 Charcot-Marie-Tooth disease dominant intermediate E ISO RGD:1343033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY WITH FOCAL SEGMENTAL GLOMERULONEPHRITIS | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate E PMID:20023659|PMID:20803156|PMID:21258034|PMID:21866090|PMID:22187985|PMID:22961558|PMID:23014460|PMID:23515051|PMID:25165188|PMID:25407002|PMID:25741868|PMID:26467025|PMID:26764407|PMID:27350175|PMID:27549087|PMID:28492532|PMID:29653220|PMID:30126379|PMID:30373780|PMID:30406062|PMID:30680856|PMID:30773290|PMID:31937884|PMID:32451589|PMID:32604935|PMID:6054293 11717092 INF2 inverted formin 2 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1343033 D RGD:7240710 20180130 OMIM 11717092 INF2 inverted formin 2 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1343033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:17576681|PMID:20023659|PMID:20803156|PMID:21258034|PMID:21415313|PMID:21866090|PMID:21998196|PMID:22187985|PMID:22961558|PMID:23014460|PMID:23349334|PMID:23515051|PMID:24174593|PMID:24750328|PMID:25165188|PMID:25407002|PMID:25676889|PMID:25741868|PMID:25741869|PMID:25943269|PMID:26086034|PMID:26248470|PMID:26467025|PMID:26467726|PMID:26764407|PMID:27350175|PMID:27549087|PMID:28166811|PMID:28492532|PMID:28780565|PMID:29653220|PMID:30126379|PMID:30373780|PMID:30406062|PMID:30680856|PMID:30773290|PMID:31515790|PMID:31937884|PMID:32451589|PMID:32604935|PMID:33712733|PMID:6054293|PMID:9536098 11717092 INF2 inverted formin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1343033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:20023659|PMID:20803156|PMID:21258034|PMID:22187985|PMID:22961558|PMID:23014460|PMID:23515051|PMID:23521651|PMID:24174593|PMID:24750328|PMID:25165188|PMID:25407002|PMID:25676889|PMID:25741868|PMID:25943269|PMID:26086034|PMID:26467025|PMID:26467726|PMID:26764407|PMID:27350175|PMID:28492532|PMID:28780565|PMID:31515790|PMID:31937884|PMID:32451589|PMID:32604935 11717092 INF2 inverted formin 2 gene DOID:1184 nephrotic syndrome ISO RGD:1343033 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:28492532|PMID:29127259 11717092 INF2 inverted formin 2 gene DOID:12215 oligohydramnios ISO RGD:1343033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligohydramnios PMID:25741868 11717092 INF2 inverted formin 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1343033 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:21866090|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30655312|PMID:32451589 11717092 INF2 inverted formin 2 gene DOID:2921 glomerulonephritis ISO RGD:1343033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glomerulonephritis PMID:25741868|PMID:28492532 11717092 INF2 inverted formin 2 gene DOID:557 kidney disease ISO RGD:1343033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:20023659|PMID:21866090|PMID:25165188|PMID:25741868|PMID:26467025|PMID:26764407|PMID:28492532|PMID:30126379|PMID:30406062|PMID:30773290 11717092 INF2 inverted formin 2 gene DOID:576 proteinuria ISO RGD:1343033 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:20023659|PMID:20803156|PMID:21258034|PMID:23014460|PMID:23515051|PMID:25165188|PMID:25407002|PMID:25741868|PMID:26467025|PMID:27350175|PMID:28492532|PMID:31937884|PMID:32604935 11717092 INF2 inverted formin 2 gene DOID:630 genetic disease ISO RGD:1343033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:21998196|PMID:22187985|PMID:22961558|PMID:23349334|PMID:23515051|PMID:25407002|PMID:25741868|PMID:26248470|PMID:26467025|PMID:27549087|PMID:28166811|PMID:28492532|PMID:30126379|PMID:30680856|PMID:33712733|PMID:9536098 11717092 INF2 inverted formin 2 gene DOID:784 chronic kidney disease ISO RGD:1343033 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 11717141 CAMTA1 calmodulin binding transcription activator 1 gene DOID:0050998 nonprogressive cerebellar ataxia with mental retardation ISO RGD:1318785 D RGD:7240710 20180130 OMIM 11717141 CAMTA1 calmodulin binding transcription activator 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1318785 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11717141 CAMTA1 calmodulin binding transcription activator 1 gene DOID:0060811 syndromic X-linked intellectual disability Turner type ISO RGD:1318785 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked syndromic, Turner type PMID:25741868 11717141 CAMTA1 calmodulin binding transcription activator 1 gene DOID:1059 intellectual disability ISO RGD:1318785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 11717141 CAMTA1 calmodulin binding transcription activator 1 gene DOID:1826 epilepsy ISO RGD:1318785 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11717141 CAMTA1 calmodulin binding transcription activator 1 gene DOID:630 genetic disease ISO RGD:1318785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11717141 CAMTA1 calmodulin binding transcription activator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11717141 CAMTA1 calmodulin binding transcription activator 1 gene DOID:9008582 Developmental Disease ISO RGD:1318785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11717182 MRGBP MRG domain binding protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11717182 MRGBP MRG domain binding protein gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1318486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11717182 MRGBP MRG domain binding protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11717182 MRGBP MRG domain binding protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1318486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 11717182 MRGBP MRG domain binding protein gene DOID:1826 epilepsy ISO RGD:1318486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 11717182 MRGBP MRG domain binding protein gene DOID:630 genetic disease ISO RGD:1318486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11717190 NDUFB7 NADH:ubiquinone oxidoreductase subunit B7 gene DOID:1596 depressive disorder susceptibility ISO RGD:1308550 D RGD:9068941 20200609 RGD PMID:22311638|REF_RGD_ID:13801196 11717190 NDUFB7 NADH:ubiquinone oxidoreductase subunit B7 gene DOID:630 genetic disease ISO RGD:1318388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11717190 NDUFB7 NADH:ubiquinone oxidoreductase subunit B7 gene DOID:700 mitochondrial metabolism disease ISO RGD:1318388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes PMID:25741868|PMID:33502047 11717190 NDUFB7 NADH:ubiquinone oxidoreductase subunit B7 gene DOID:893 Wilson disease ISO RGD:1318388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 11717190 NDUFB7 NADH:ubiquinone oxidoreductase subunit B7 gene DOID:9007680 Nuclear Type Mitochondrial Complex I Deficiency 39 ISO RGD:1318388 D RGD:7240710 20221214 OMIM 11717190 NDUFB7 NADH:ubiquinone oxidoreductase subunit B7 gene DOID:9007680 Nuclear Type Mitochondrial Complex I Deficiency 39 ISO RGD:1318388 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 39 PMID:25741868|PMID:33502047 11717209 CLDN20 claudin 20 gene DOID:630 genetic disease ISO RGD:1343820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11717215 LOC100976125 olfactory receptor 51V1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1343262 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11717215 LOC100976125 olfactory receptor 51V1 gene DOID:630 genetic disease ISO RGD:1343262 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11717219 ITPRIPL1 ITPRIP like 1 gene DOID:10283 prostate cancer ISO RGD:1603562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11717219 ITPRIPL1 ITPRIP like 1 gene DOID:1059 intellectual disability ISO RGD:1603562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11717219 ITPRIPL1 ITPRIP like 1 gene DOID:5419 schizophrenia ISO RGD:1603562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11717219 ITPRIPL1 ITPRIP like 1 gene DOID:630 genetic disease ISO RGD:1603562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11717229 C2AH2orf68 chromosome 2A C2orf68 homolog gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1606379 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 11717229 C2AH2orf68 chromosome 2A C2orf68 homolog gene DOID:630 genetic disease ISO RGD:1606379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11717240 COL28A1 collagen type XXVIII alpha 1 chain gene DOID:630 genetic disease ISO RGD:1604476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11717240 COL28A1 collagen type XXVIII alpha 1 chain gene DOID:670 amphetamine abuse ISO RGD:1604476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11717278 ZFYVE19 zinc finger FYVE-type containing 19 gene DOID:2717 Bloom syndrome ISO RGD:1345411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11717278 ZFYVE19 zinc finger FYVE-type containing 19 gene DOID:630 genetic disease ISO RGD:1345411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11717278 ZFYVE19 zinc finger FYVE-type containing 19 gene DOID:9002381 Progressive Familial Intrahepatic Cholestasis 9 ISO RGD:1345411 D RGD:7240710 20220518 OMIM 11717278 ZFYVE19 zinc finger FYVE-type containing 19 gene DOID:9002381 Progressive Familial Intrahepatic Cholestasis 9 ISO RGD:1345411 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 9 PMID:32737136|PMID:33853651 11717278 ZFYVE19 zinc finger FYVE-type containing 19 gene DOID:9256 colorectal cancer ISO RGD:1345411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11717293 SIDT1 SID1 transmembrane family member 1 gene DOID:2843 long QT syndrome ISO RGD:1346888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11717293 SIDT1 SID1 transmembrane family member 1 gene DOID:630 genetic disease ISO RGD:1346888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11717293 SIDT1 SID1 transmembrane family member 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1346888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11717323 SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 gene DOID:0050574 L-2-hydroxyglutaric aciduria ISO RGD:1346295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria PMID:15385440 11717323 SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 gene DOID:0060587 Noonan syndrome 9 ISO RGD:1346295 D RGD:7240710 20180130 OMIM 11717323 SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 gene DOID:0060587 Noonan syndrome 9 ISO RGD:1346295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome 9 PMID:16199547|PMID:17143282|PMID:17143285|PMID:17576681|PMID:17586837|PMID:18854871|PMID:19352411|PMID:19953625|PMID:21533187|PMID:24033266|PMID:25640679|PMID:25741868|PMID:25795793|PMID:26173643|PMID:26686981|PMID:27942422|PMID:28166811|PMID:28492532|PMID:29493581|PMID:29696744|PMID:30417923|PMID:30455982|PMID:30707178|PMID:31573083|PMID:32037394|PMID:32788663|PMID:33452774|PMID:9536098 11717323 SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 gene DOID:0080690 RASopathy ISO RGD:1346295 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: RASopathy PMID:25741868|PMID:25795793|PMID:26173643|PMID:27942422|PMID:28492532|PMID:29493581|PMID:30417923|PMID:30707178|PMID:32788663|PMID:33452774 11717323 SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 gene DOID:3490 Noonan syndrome ISO RGD:1346295 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:25741868|PMID:25795793|PMID:26173643|PMID:27942422|PMID:28492532|PMID:29493581|PMID:30417923|PMID:30707178|PMID:32788663|PMID:33452774 11717323 SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 gene DOID:630 genetic disease ISO RGD:1346295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17143282|PMID:17143285|PMID:17576681|PMID:17586837|PMID:18854871|PMID:19352411|PMID:19953625|PMID:25741868|PMID:26686981|PMID:28492532|PMID:29696744|PMID:9536098 11717323 SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1346295 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11717323 SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 gene DOID:9008582 Developmental Disease ISO RGD:1346295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11717350 GNAT1 G protein subunit alpha transducin 1 gene DOID:0050534 congenital stationary night blindness ISO RGD:1312271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant 11717350 GNAT1 G protein subunit alpha transducin 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 11717350 GNAT1 G protein subunit alpha transducin 1 gene DOID:0110714 congenital stationary night blindness 1G ISO RGD:1312271 D RGD:7240710 20180130 OMIM 11717350 GNAT1 G protein subunit alpha transducin 1 gene DOID:0110714 congenital stationary night blindness 1G ISO RGD:1312271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1G PMID:11095744|PMID:22190596|PMID:25741868|PMID:26472407|PMID:27624628|PMID:28492532|PMID:31736247 11717350 GNAT1 G protein subunit alpha transducin 1 gene DOID:0110715 congenital stationary night blindness autosomal dominant 3 ISO RGD:1312271 D RGD:7240710 20180130 OMIM 11717350 GNAT1 G protein subunit alpha transducin 1 gene DOID:0110715 congenital stationary night blindness autosomal dominant 3 ISO RGD:1312271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 3 PMID:11095744|PMID:17584859|PMID:25741868|PMID:26472407|PMID:27624628|PMID:28492532|PMID:31736247|PMID:8673138 11717350 GNAT1 G protein subunit alpha transducin 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 11717350 GNAT1 G protein subunit alpha transducin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1312271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:30718709 11717350 GNAT1 G protein subunit alpha transducin 1 gene DOID:630 genetic disease ISO RGD:1312271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11717350 GNAT1 G protein subunit alpha transducin 1 gene DOID:8499 night blindness ISO RGD:1312271 D RGD:9068941 20200609 RGD PMID:8673138|REF_RGD_ID:1599006 11717350 GNAT1 G protein subunit alpha transducin 1 gene DOID:8501 fundus dystrophy ISO RGD:1312271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 11717350 GNAT1 G protein subunit alpha transducin 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1312271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11717350 GNAT1 G protein subunit alpha transducin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1304683 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:15939031|REF_RGD_ID:1600001 11717350 GNAT1 G protein subunit alpha transducin 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1312271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11717379 SPSB4 splA/ryanodine receptor domain and SOCS box containing 4 gene DOID:630 genetic disease ISO RGD:1603370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11717379 SPSB4 splA/ryanodine receptor domain and SOCS box containing 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11717388 MYO16 myosin XVI gene DOID:10283 prostate cancer ISO RGD:1604637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11717388 MYO16 myosin XVI gene DOID:2222 factor X deficiency ISO RGD:1604637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 11717388 MYO16 myosin XVI gene DOID:630 genetic disease ISO RGD:1604637 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11717388 MYO16 myosin XVI gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1604637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:0040084 Streptococcus pneumonia exacerbates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:33625952|REF_RGD_ID:127229925 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1342902 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:0080160 cytomegalovirus retinitis ISO RGD:734463 D RGD:9068941 20210604 RGD protein:increased expression:optic cup, retina (mouse) PMID:29853772|REF_RGD_ID:127229940 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1342902 D RGD:9068941 20210604 RGD mRNA:increased expression:liver (human) PMID:21425308|REF_RGD_ID:127229938 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:10584 retinitis pigmentosa ISO RGD:734463 D RGD:9068941 20200609 RGD PMID:22908283|REF_RGD_ID:7777166 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:10844 Japanese encephalitis ameliorates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:32265853|REF_RGD_ID:127229907 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1342902 D RGD:9068941 20210604 RGD associated with avian influenza;mRNA, protein:increased expression, increased phosphorylation:lung (human) PMID:31080811|REF_RGD_ID:127229928 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:11573 listeriosis exacerbates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:30975711|REF_RGD_ID:127229912 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:1273 respiratory syncytial virus infectious disease ameliorates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:33303545|REF_RGD_ID:127229923 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:1508 candidiasis exacerbates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:30944411|REF_RGD_ID:127229913 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:182 calcinosis ISO RGD:1342902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:2723 dermatitis ISO RGD:734463 D RGD:9068941 20200609 RGD PMID:22000287|REF_RGD_ID:7777169 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:3298 vaccinia exacerbates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:19524513|REF_RGD_ID:127229939 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:399 tuberculosis exacerbates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:29892302|REF_RGD_ID:127229926 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:4079 heart valve disease ISO RGD:1342902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:4492 avian influenza ameliorates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:28423682|REF_RGD_ID:127229942 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:630 genetic disease ISO RGD:1342902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:824 periodontitis treatment ISO RGD:734463 D RGD:9068941 20210604 RGD associated with Gram-Negative Bacterial Infections PMID:31758083|REF_RGD_ID:127229920 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:8466 retinal degeneration ISO RGD:734463 D RGD:9068941 20200609 RGD PMID:23954861|REF_RGD_ID:7777167 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:8566 herpes simplex exacerbates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:25316792|PMID:30050136|REF_RGD_ID:127229943|REF_RGD_ID:40902865 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:874 bacterial pneumonia ameliorates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:28387756|REF_RGD_ID:127229944 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9000238 Acute-On-Chronic Liver Failure exacerbates ISO RGD:1342902 D RGD:9068941 20210604 RGD associated with Chronic Hepatitis B;mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:30996211|REF_RGD_ID:127229914 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1342902 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9000371 influenza A exacerbates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:27321907|PMID:32200799|REF_RGD_ID:127229911|REF_RGD_ID:127229922 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9000371 influenza A susceptibility ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:28410401|REF_RGD_ID:127229918 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9001004 Chronic Periodontitis ISO RGD:1342902 D RGD:9068941 20210604 RGD protein:increased expression,'increased phosphorylation:gingiva (human) PMID:30814594|REF_RGD_ID:127229937 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9001049 Staphylococcal Pneumonia treatment ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:25445964|REF_RGD_ID:127229910 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9001415 Mycobacterium Infections ameliorates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:28401933|REF_RGD_ID:127229921 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9002834 Herpesviridae Infections ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:31985117|REF_RGD_ID:127229917 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9004379 Vesicular Stomatitis ameliorates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:25326752|REF_RGD_ID:127229916 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9004484 Sepsis ameliorates ISO RGD:1332101 D RGD:9068941 20210604 RGD PMID:32152555|REF_RGD_ID:127229919 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9004484 Sepsis ameliorates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:22195746|REF_RGD_ID:127229909 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9004484 Sepsis no_association ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:23835476|REF_RGD_ID:127229908 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1342902 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9005966 Staphylococcal Skin Infections ameliorates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:27524612|REF_RGD_ID:127229915 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9006262 Cytomegalovirus Infections severity ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:29847649|REF_RGD_ID:127229927 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1342902 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26769846 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734463 D RGD:9068941 20210604 RGD protein:increased expression:liver (mouse) PMID:28205631|REF_RGD_ID:127229945 11717427 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9452 fatty liver disease ISO RGD:1342902 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26769846 11717441 SLC35F6 solute carrier family 35 member F6 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1319452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11717441 SLC35F6 solute carrier family 35 member F6 gene DOID:630 genetic disease ISO RGD:1319452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11717484 FAM149A family with sequence similarity 149 member A gene DOID:0060041 autism spectrum disorder ISO RGD:1604030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25255310 11717484 FAM149A family with sequence similarity 149 member A gene DOID:12849 autistic disorder ISO RGD:1604030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11717484 FAM149A family with sequence similarity 149 member A gene DOID:630 genetic disease ISO RGD:1604030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11717484 FAM149A family with sequence similarity 149 member A gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1604030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:0050328 congenital hypothyroidism ISO RGD:2645 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:23693027|REF_RGD_ID:10449124 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:0050454 periventricular nodular heterotopia ISO RGD:736474 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:0050476 Barth syndrome ISO RGD:736474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:0050800 creatine transporter deficiency ISO RGD:736474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:20211032|REF_RGD_ID:10449177 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:0080941 acquired angioedema ISO RGD:736474 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Susceptibility to angioedema induced by ACE inhibitors PMID:10782016|PMID:11445808|PMID:12064920|PMID:12497642|PMID:12768444|PMID:14278484|PMID:15315792|PMID:15502081|PMID:1551674|PMID:15727905|PMID:16119988|PMID:16143877|PMID:18046504|PMID:18226470|PMID:18568599|PMID:19594365|PMID:1972698|PMID:1978554|PMID:1978555|PMID:21507207|PMID:22018328|PMID:22452742|PMID:2253938|PMID:22552160|PMID:22770933|PMID:22906047|PMID:22906837|PMID:23006493|PMID:2321910|PMID:23479361|PMID:2393028|PMID:24134566|PMID:24460025|PMID:24586352|PMID:2503817|PMID:25326637|PMID:25541721|PMID:25741868|PMID:27519946|PMID:27853304|PMID:28492532|PMID:2912069|PMID:29300386|PMID:31863082|PMID:32425388|PMID:32860008|PMID:33072997|PMID:33636823|PMID:3393536|PMID:34966093|PMID:35840819|PMID:4974311|PMID:5305539|PMID:5369703|PMID:5641629|PMID:5673160|PMID:6698555|PMID:7203486|PMID:7390473|PMID:7577654|PMID:7590755|PMID:7959686|PMID:8370579|PMID:8447319|PMID:8611726|PMID:8860013|PMID:9017974|PMID:9233561|PMID:9250351|PMID:9342374 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:0081078 ectodermal dysplasia and immunodeficiency 1 ISO RGD:736474 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 PMID:25741868 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:736474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:0111936 immunodeficiency 14 ISO RGD:736474 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT PMID:10734064|PMID:11852882|PMID:1303173|PMID:16356170|PMID:17018380|PMID:18677765|PMID:1924316|PMID:21153663|PMID:21479984|PMID:21931771|PMID:23006493|PMID:23057857|PMID:23144702|PMID:24033266|PMID:24505519|PMID:25201310|PMID:2572288|PMID:25741868|PMID:27040960|PMID:2836867|PMID:28492532|PMID:28756180|PMID:29300386|PMID:30045279|PMID:32387609|PMID:33636823|PMID:3393536|PMID:34620237|PMID:4359638|PMID:5448|PMID:5641629|PMID:6015571|PMID:7959686|PMID:8860013 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:0112003 immunodeficiency 33 ISO RGD:736474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:0112105 X-linked parkinsonism-spasticity syndrome ISO RGD:736474 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: X-linked parkinsonism-spasticity syndrome PMID:10734064|PMID:11852882|PMID:1303173|PMID:16356170|PMID:17018380|PMID:18677765|PMID:1924316|PMID:21153663|PMID:21479984|PMID:21931771|PMID:23006493|PMID:23057857|PMID:23144702|PMID:24033266|PMID:24505519|PMID:25201310|PMID:2572288|PMID:25741868|PMID:27040960|PMID:2836867|PMID:28492532|PMID:28756180|PMID:29300386|PMID:30045279|PMID:32387609|PMID:33636823|PMID:3393536|PMID:34620237|PMID:4359638|PMID:5448|PMID:5641629|PMID:6015571|PMID:7959686|PMID:8860013 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:10588 adrenoleukodystrophy ISO RGD:736474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:11476 osteoporosis ISO RGD:736474 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 PMID:10734064|PMID:12367584|PMID:12737938|PMID:1303173|PMID:14014720|PMID:14278484|PMID:1631957|PMID:16356170|PMID:18452027|PMID:1978554|PMID:21479984|PMID:21931771|PMID:22307442|PMID:22963789|PMID:23006493|PMID:23144702|PMID:2321910|PMID:2503817|PMID:25071003|PMID:25201310|PMID:2572288|PMID:25741868|PMID:26633385|PMID:26990548|PMID:27287612|PMID:27535533|PMID:27853304|PMID:27884173|PMID:28195434|PMID:2836867|PMID:28492532|PMID:28852037|PMID:29072585|PMID:29141760|PMID:30161219|PMID:30314477|PMID:31525211|PMID:33636823|PMID:3393536|PMID:3446582|PMID:4359638|PMID:4388132|PMID:5448|PMID:6015571|PMID:7949118|PMID:8611726|PMID:8860013|PMID:8956035|PMID:9858856 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:736474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:12365 malaria ISO RGD:736474 D RGD:7240710 20230505 OMIM 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:12365 malaria ISO RGD:736474 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malaria, susceptibility to PMID:10734064|PMID:10782016|PMID:11445808|PMID:11499668|PMID:11793482|PMID:12028056|PMID:12064920|PMID:12367584|PMID:12497642|PMID:12737938|PMID:12768444|PMID:1303173|PMID:14278484|PMID:14505231|PMID:15223006|PMID:15315792|PMID:15349799|PMID:15502081|PMID:1551674|PMID:15625830|PMID:1562739|PMID:15766741|PMID:15906717|PMID:16119988|PMID:16136268|PMID:16155737|PMID:1631957|PMID:16356170|PMID:16528451|PMID:16777444|PMID:16927025|PMID:17726510|PMID:17959407|PMID:18046504|PMID:1805484|PMID:18329300|PMID:1924316|PMID:1953767|PMID:19589177|PMID:19594365|PMID:1972698|PMID:1978554|PMID:1978555|PMID:20007901|PMID:20236109|PMID:20602793|PMID:21446359|PMID:21479984|PMID:21677401|PMID:21931771|PMID:21989994|PMID:22018328|PMID:22165289|PMID:22293322|PMID:22307442|PMID:22906047|PMID:23144702|PMID:2321910|PMID:23479361|PMID:23926329|PMID:23965028|PMID:24033266|PMID:24460025|PMID:24551785|PMID:24586352|PMID:2503817|PMID:25201310|PMID:25326637|PMID:25548459|PMID:2572288|PMID:25741868|PMID:25775246|PMID:26060661|PMID:26226515|PMID:2633878|PMID:26633385|PMID:26990548|PMID:27053284|PMID:27213370|PMID:27287612|PMID:27535533|PMID:27853304|PMID:27880809|PMID:27884173|PMID:27980749|PMID:28195434|PMID:2836867|PMID:28492532|PMID:2849540|PMID:29072585|PMID:2912069|PMID:29141760|PMID:29339739|PMID:30161219|PMID:30315739|PMID:31525211|PMID:32860008|PMID:33051526|PMID:3338798|PMID:33413378|PMID:3393536|PMID:3446582|PMID:4359638|PMID:4388132|PMID:4435794|PMID:4837298|PMID:4974311|PMID:5305539|PMID:5369703|PMID:5448|PMID:5770172|PMID:6015571|PMID:6698555|PMID:7203486|PMID:7327562|PMID:7390473|PMID:7803800|PMID:7806085|PMID:7947239|PMID:7947250|PMID:7949118|PMID:8118045|PMID:8611726|PMID:8807321|PMID:8860013|PMID:8956035|PMID:9192788|PMID:9342374|PMID:9589612|PMID:9858856 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:12365 malaria ISO RGD:736474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malaria, susceptibility to PMID:10221015|PMID:10502785|PMID:10643148|PMID:10734064|PMID:10782016|PMID:11024211|PMID:11146567|PMID:11243133|PMID:11400791|PMID:11445808|PMID:11499668|PMID:11601226|PMID:11793482|PMID:12028056|PMID:12064920|PMID:12105841|PMID:12367584|PMID:12497642|PMID:12737938|PMID:12768444|PMID:1303173|PMID:14014720|PMID:14278484|PMID:14505231|PMID:1459579|PMID:15223006|PMID:15315792|PMID:15349799|PMID:15502081|PMID:1551674|PMID:15625830|PMID:1562739|PMID:15727905|PMID:15766741|PMID:15906717|PMID:16088936|PMID:16119988|PMID:16136268|PMID:16143877|PMID:16155737|PMID:1631957|PMID:16329560|PMID:16356170|PMID:16513531|PMID:16528451|PMID:16607506|PMID:16777444|PMID:16832|PMID:16927025|PMID:17587269|PMID:17726510|PMID:17959407|PMID:18046504|PMID:1805484|PMID:18226470|PMID:18270558|PMID:18329300|PMID:18452027|PMID:18568599|PMID:1924316|PMID:1945893|PMID:1953767|PMID:19589177|PMID:19594365|PMID:1972698|PMID:1978554|PMID:1978555|PMID:20007901|PMID:20200584|PMID:20203002|PMID:20236109|PMID:20602793|PMID:21446359|PMID:21479984|PMID:21507207|PMID:21637675|PMID:21677401|PMID:21874587|PMID:21931771|PMID:21989994|PMID:22018328|PMID:22164279|PMID:22165289|PMID:22171972|PMID:22293322|PMID:22307442|PMID:22452742|PMID:2253938|PMID:22552160|PMID:2263506|PMID:22770933|PMID:22906047|PMID:22906837|PMID:22963789|PMID:23006493|PMID:23144702|PMID:2321910|PMID:23479361|PMID:23926329|PMID:2393028|PMID:23965028|PMID:24033266|PMID:24134566|PMID:24460025|PMID:24551785|PMID:24586352|PMID:2503817|PMID:25071003|PMID:25201310|PMID:25326637|PMID:25440321|PMID:25536053|PMID:25541721|PMID:25548459|PMID:2572288|PMID:25741868|PMID:25775246|PMID:26060661|PMID:26226515|PMID:2633878|PMID:26633385|PMID:26823837|PMID:26990548|PMID:27053284|PMID:27213370|PMID:27287612|PMID:27519946|PMID:27535533|PMID:27853304|PMID:27880809|PMID:27884173|PMID:27980749|PMID:28195434|PMID:2836867|PMID:28492532|PMID:2849540|PMID:28852037|PMID:29072585|PMID:2912069|PMID:29141760|PMID:29300386|PMID:29339739|PMID:30045279|PMID:30077011|PMID:30096395|PMID:30161219|PMID:30314477|PMID:30315739|PMID:30674319|PMID:31489982|PMID:31525211|PMID:31862010|PMID:31863082|PMID:3198117|PMID:32180910|PMID:32425388|PMID:32860008|PMID:33051526|PMID:33072997|PMID:3338798|PMID:33413378|PMID:33636823|PMID:3393536|PMID:3446582|PMID:34620237|PMID:34659341|PMID:34762759|PMID:34895177|PMID:34934109|PMID:34966093|PMID:35313968|PMID:35840819|PMID:4283789|PMID:4359638|PMID:4379606|PMID:4388132|PMID:4392654|PMID:4435794|PMID:4721339|PMID:4837298|PMID:4974311|PMID:5081671|PMID:5305539|PMID:5369703|PMID:5448|PMID:5485383|PMID:5641629|PMID:5673160|PMID:5770172|PMID:5844610|PMID:6015571|PMID:6698555|PMID:6714986|PMID:7203486|PMID:7327562|PMID:7390473|PMID:7440223|PMID:7577654|PMID:7590755|PMID:7789945|PMID:7803800|PMID:7806085|PMID:7825590|PMID:7947239|PMID:7947250|PMID:7949118|PMID:7959686|PMID:8118045|PMID:8193373|PMID:8244337|PMID:8370579|PMID:8447319|PMID:8471773|PMID:8490627|PMID:8537082|PMID:8611726|PMID:8807321|PMID:8860013|PMID:8956035|PMID:9017974|PMID:9192788|PMID:9233561|PMID:9250351|PMID:9342374|PMID:9589612|PMID:9858856 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:12365 malaria severity ISO RGD:736474 D RGD:9068941 20200609 RGD DNA:point mutation:cds:c.968T>C (human) PMID:24615128|REF_RGD_ID:10449115 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:12365 malaria susceptibility ISO RGD:736474 D RGD:9068941 20230506 RGD DNA:SNPs: :multiple PMID:25015414|REF_RGD_ID:10449111 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:12849 autistic disorder ISO RGD:736474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:13413 hepatic encephalopathy ISO RGD:2645 D RGD:9068941 20200609 RGD protein:increased expression:cerebellum PMID:20405262|REF_RGD_ID:10449131 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:13580 cholestasis ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:18802767|REF_RGD_ID:2307352 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:13628 favism ISO RGD:736474 D RGD:7240710 20180130 OMIM 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:13628 favism ISO RGD:736474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar Annotator: match by term: FAVISM, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Favism, susceptibility to | ClinVar Annotator: match by term: G6PD A- | ClinVar Annotator: match by term: G6PD AURES | ClinVar Annotator: match by term: G6PD MALAGA | ClinVar Annotator: match by term: G6PD MINNESOTA | ClinVar Annotator: match by term: G6PD SANTIAGO | ClinVar Annotator: match by term: G6PD SANTIAGO DE CUBA | ClinVar Annotator: match by term: G6PD SERRES PMID:1008056|PMID:10192449|PMID:10221015|PMID:10502785|PMID:10556177|PMID:10571945|PMID:10627140|PMID:10643148|PMID:10666231|PMID:10734064|PMID:10772881|PMID:10782016|PMID:10916676|PMID:11024211|PMID:11042039|PMID:11112389|PMID:11146567|PMID:11243133|PMID:11261779|PMID:11271380|PMID:11295127|PMID:11400791|PMID:11445808|PMID:11484161|PMID:11499668|PMID:11594515|PMID:11601226|PMID:11780463|PMID:11793482|PMID:11852882|PMID:12028056|PMID:12064901|PMID:12064902|PMID:12064920|PMID:12105841|PMID:12130518|PMID:12187030|PMID:12215013|PMID:12367584|PMID:12497642|PMID:1270075|PMID:12737938|PMID:12737940|PMID:12768444|PMID:12850494|PMID:1303173|PMID:1303182|PMID:14014720|PMID:14278484|PMID:14505231|PMID:1459579|PMID:14757424|PMID:14757426|PMID:15065213|PMID:15223006|PMID:15315792|PMID:15349799|PMID:1536798|PMID:15466166|PMID:15502081|PMID:1551674|PMID:15625830|PMID:1562739|PMID:15727905|PMID:15766741|PMID:15858258|PMID:15906717|PMID:15914531|PMID:16079115|PMID:16088936|PMID:1611091|PMID:16119988|PMID:16136268|PMID:16143877|PMID:16155737|PMID:16193512|PMID:1631957|PMID:16329560|PMID:16356170|PMID:16461316|PMID:16513531|PMID:16528451|PMID:16607506|PMID:16753852|PMID:16777444|PMID:16832|PMID:16927025|PMID:16934959|PMID:16944148|PMID:17018380|PMID:17233850|PMID:17524386|PMID:17576681|PMID:17587269|PMID:17611006|PMID:17726510|PMID:17877203|PMID:17959407|PMID:18043863|PMID:18046504|PMID:1805484|PMID:18056001|PMID:18066402|PMID:18086567|PMID:18177777|PMID:18226470|PMID:18270558|PMID:18329300|PMID:18452027|PMID:18568599|PMID:18677765|PMID:1879833|PMID:18985093|PMID:1924316|PMID:19422023|PMID:1945893|PMID:19465117|PMID:1953767|PMID:19589177|PMID:19594365|PMID:19632868|PMID:1972698|PMID:1978554|PMID:1978555|PMID:1999339|PMID:1999409|PMID:20007901|PMID:20052779|PMID:20085579|PMID:20200584|PMID:20203002|PMID:20236109|PMID:20582980|PMID:20602793|PMID:20621077|PMID:20713184|PMID:20949590|PMID:21063220|PMID:21153663|PMID:21302115|PMID:21397531|PMID:21441392|PMID:21446359|PMID:21479984|PMID:21507207|PMID:2157298|PMID:21637675|PMID:21677401|PMID:21874587|PMID:2190319|PMID:21931771|PMID:21989994|PMID:22018328|PMID:22139979|PMID:22164279|PMID:22165289|PMID:22171972|PMID:2222408|PMID:22237549|PMID:22293322|PMID:22307442|PMID:22452742|PMID:2253938|PMID:22552160|PMID:2255919|PMID:2263506|PMID:22770933|PMID:22906047|PMID:22906837|PMID:22963789|PMID:22963798|PMID:23006493|PMID:23057857|PMID:2307454|PMID:23144702|PMID:2321910|PMID:23365477|PMID:23389243|PMID:23479361|PMID:23757202|PMID:23926329|PMID:2393028|PMID:23965028|PMID:24022758|PMID:24033266|PMID:24117340|PMID:24134566|PMID:24460025|PMID:24505519|PMID:24551785|PMID:24586352|PMID:24711023|PMID:24787449|PMID:2503817|PMID:25071003|PMID:25141282|PMID:25189226|PMID:25201310|PMID:25326637|PMID:25407525|PMID:25440321|PMID:25536053|PMID:25541721|PMID:25548459|PMID:2572288|PMID:25741868|PMID:25775246|PMID:25925739|PMID:2602358|PMID:2606066|PMID:26060661|PMID:26226515|PMID:26275698|PMID:2633878|PMID:26479991|PMID:26633385|PMID:26693676|PMID:26823837|PMID:26827633|PMID:26829728|PMID:26990548|PMID:27040960|PMID:27053284|PMID:27213370|PMID:27287612|PMID:27408423|PMID:27495838|PMID:27519946|PMID:27535533|PMID:27853304|PMID:27880809|PMID:27884173|PMID:27914961|PMID:27980749|PMID:28028996|PMID:28059001|PMID:28195434|PMID:28356147|PMID:2836867|PMID:28492532|PMID:2849540|PMID:28583873|PMID:28756180|PMID:28852037|PMID:2895981|PMID:29072585|PMID:2912069|PMID:2912886|PMID:29141760|PMID:29248304|PMID:29300386|PMID:29333274|PMID:29339739|PMID:29396846|PMID:30045279|PMID:30077011|PMID:30096395|PMID:30097005|PMID:30161219|PMID:30314477|PMID:30315739|PMID:30674319|PMID:31294066|PMID:31489982|PMID:31525211|PMID:31590661|PMID:31609781|PMID:31862010|PMID:31863082|PMID:3198117|PMID:3201886|PMID:32180910|PMID:32387441|PMID:32387609|PMID:32425388|PMID:32680472|PMID:32702756|PMID:32860008|PMID:32987391|PMID:33051526|PMID:33069889|PMID:33072997|PMID:3338798|PMID:33413378|PMID:33636823|PMID:3393536|PMID:34007417|PMID:3446582|PMID:34620237 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:13628 favism ISO RGD:736474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar Annotator: match by term: FAVISM, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Favism, susceptibility to | ClinVar Annotator: match by term: G6PD A- | ClinVar Annotator: match by term: G6PD AURES | ClinVar Annotator: match by term: G6PD MALAGA | ClinVar Annotator: match by term: G6PD MINNESOTA | ClinVar Annotator: match by term: G6PD SANTIAGO | ClinVar Annotator: match by term: G6PD SANTIAGO DE CUBA | ClinVar Annotator: match by term: G6PD SERRES PMID:34643346|PMID:34659341|PMID:34762759|PMID:34895177|PMID:34934109|PMID:34966093|PMID:34989400|PMID:35313968|PMID:3565372|PMID:35695473|PMID:35840819|PMID:3591235|PMID:3740052|PMID:4154774|PMID:4283789|PMID:4359638|PMID:4379606|PMID:4388132|PMID:4392654|PMID:4435794|PMID:4721339|PMID:4837298|PMID:4838696|PMID:4974311|PMID:5081671|PMID:511159|PMID:5305539|PMID:5316621|PMID:5369703|PMID:5413384|PMID:5448|PMID:5485383|PMID:5641629|PMID:5673160|PMID:5770172|PMID:5775246|PMID:5779160|PMID:5844610|PMID:6015571|PMID:6344088|PMID:6500558|PMID:6698555|PMID:6714978|PMID:6714986|PMID:7055648|PMID:7129446|PMID:7160841|PMID:7203486|PMID:7327562|PMID:736032|PMID:7390473|PMID:7440223|PMID:7577654|PMID:7590755|PMID:7655862|PMID:7789945|PMID:7803800|PMID:7806085|PMID:7825590|PMID:7849299|PMID:7858267|PMID:7870632|PMID:7947239|PMID:7947250|PMID:7949118|PMID:7959686|PMID:7959695|PMID:8118045|PMID:8141125|PMID:8193373|PMID:8241497|PMID:8244337|PMID:835572|PMID:8364584|PMID:8370579|PMID:8436389|PMID:8447319|PMID:8471773|PMID:8477268|PMID:848857|PMID:8490627|PMID:853376|PMID:8533762|PMID:8537082|PMID:8611726|PMID:8807085|PMID:8807321|PMID:8807322|PMID:8813094|PMID:8860013|PMID:8956035|PMID:9017974|PMID:9192788|PMID:9233561|PMID:9250351|PMID:9290617|PMID:9298828|PMID:9299858|PMID:9332310|PMID:9342374|PMID:9410474|PMID:9444913|PMID:9536098|PMID:9589612|PMID:9674740|PMID:9858856 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:14067 Plasmodium falciparum malaria severity ISO RGD:736474 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:202G>A (p.V68M) (human) PMID:24943486|REF_RGD_ID:10449113 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:1591 renovascular hypertension treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:22684021|REF_RGD_ID:10449172 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:224 transient cerebral ischemia ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:22580330|REF_RGD_ID:10449127 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:2355 anemia ISO RGD:736474 D RGD:9068941 20200609 RGD PMID:25940869|REF_RGD_ID:10449105 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:2355 anemia ISO RGD:736474 D RGD:9068941 20200609 RGD associated with Malaria, Falciparum;DNA:SNPs: :rs1050828, rs1050829 (human) PMID:24934404|REF_RGD_ID:10449114 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:2355 anemia treatment ISO RGD:736474 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:25261071|REF_RGD_ID:10449108 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:2383 neonatal jaundice ISO RGD:736474 D RGD:9068941 20200609 RGD DNA:point mutation: :563C>T (human) PMID:24460025|REF_RGD_ID:10449116 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:2729 dyskeratosis congenita ISO RGD:736474 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:2773 contact dermatitis ISO RGD:736474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:736474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10666231|PMID:4125296 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:736474 D RGD:9068941 20200609 RGD DNA:point mutations: :1376G>T, 1502T>G (human) PMID:24923766|REF_RGD_ID:10449107 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:736474 D RGD:9068941 20200609 RGD DNA:point mutations:exon:637G>T, 1178G>A, 1089C>A (human) PMID:1999409|REF_RGD_ID:1599812 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:2862 glucosephosphate dehydrogenase deficiency ISO RGD:736474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: G6PD WALTER REED | ClinVar Annotator: match by term: G6PD deficiency | ClinVar Annotator: match by term: Glucose 6 phosphate dehydrogenase deficiency | ClinVar Annotator: match by term: Glucose-6-phosphate dehydrogenase deficiency | ClinVar Annotator: match by term: Hemolytic anemia due to G6PD deficiency PMID:10192449|PMID:10221015|PMID:10502785|PMID:10571945|PMID:10643148|PMID:10666231|PMID:10734064|PMID:10782016|PMID:10916676|PMID:11024211|PMID:11042039|PMID:11112389|PMID:11146567|PMID:11243133|PMID:11400791|PMID:11445808|PMID:11499668|PMID:11601226|PMID:11793482|PMID:11852882|PMID:12028056|PMID:12064920|PMID:12105841|PMID:12187030|PMID:12215013|PMID:12367584|PMID:12497642|PMID:12737938|PMID:12768444|PMID:1303173|PMID:1303182|PMID:14014720|PMID:14278484|PMID:14505231|PMID:1459579|PMID:15223006|PMID:15315792|PMID:15349799|PMID:1536798|PMID:15466166|PMID:15502081|PMID:1551674|PMID:15625830|PMID:1562739|PMID:15727905|PMID:15766741|PMID:15906717|PMID:15914531|PMID:16088936|PMID:1611091|PMID:16119988|PMID:16136268|PMID:16143877|PMID:16155737|PMID:16193512|PMID:1631957|PMID:16329560|PMID:16356170|PMID:16461316|PMID:16513531|PMID:16528451|PMID:16607506|PMID:16777444|PMID:16832|PMID:16927025|PMID:16934959|PMID:17018380|PMID:17233850|PMID:17524386|PMID:17576681|PMID:17587269|PMID:17726510|PMID:17959407|PMID:18043863|PMID:18046504|PMID:1805484|PMID:18056001|PMID:18177777|PMID:18226470|PMID:18270558|PMID:18329300|PMID:18452027|PMID:18568599|PMID:18677765|PMID:18985093|PMID:1924316|PMID:1945893|PMID:19465117|PMID:1953767|PMID:19589177|PMID:19594365|PMID:1972698|PMID:1978554|PMID:1978555|PMID:1999339|PMID:1999409|PMID:20007901|PMID:20200584|PMID:20203002|PMID:20236109|PMID:20582980|PMID:20602793|PMID:20621077|PMID:20949590|PMID:21153663|PMID:21302115|PMID:21441392|PMID:21446359|PMID:21479984|PMID:21507207|PMID:2157298|PMID:21637675|PMID:21677401|PMID:21874587|PMID:2190319|PMID:21931771|PMID:21989994|PMID:22018328|PMID:22164279|PMID:22165289|PMID:22171972|PMID:2222408|PMID:22237549|PMID:22293322|PMID:22307442|PMID:22452742|PMID:2253938|PMID:22552160|PMID:2255919|PMID:2263506|PMID:22770933|PMID:22906047|PMID:22906837|PMID:22963789|PMID:22963798|PMID:23006493|PMID:23057857|PMID:2307454|PMID:23144702|PMID:2321910|PMID:23365477|PMID:23389243|PMID:23479361|PMID:23757202|PMID:23926329|PMID:2393028|PMID:23965028|PMID:24033266|PMID:24117340|PMID:24134566|PMID:24460025|PMID:24505519|PMID:24551785|PMID:24586352|PMID:2503817|PMID:25071003|PMID:25141282|PMID:25201310|PMID:25326637|PMID:25407525|PMID:25440321|PMID:25536053|PMID:25541721|PMID:25548459|PMID:2572288|PMID:25741868|PMID:25775246|PMID:2602358|PMID:26060661|PMID:26226515|PMID:2633878|PMID:26633385|PMID:26823837|PMID:26829728|PMID:26990548|PMID:27040960|PMID:27053284|PMID:27213370|PMID:27287612|PMID:27519946|PMID:27535533|PMID:27853304|PMID:27880809|PMID:27884173|PMID:27980749|PMID:28028996|PMID:28059001|PMID:28195434|PMID:2836867|PMID:28492532|PMID:2849540|PMID:28583873|PMID:28756180|PMID:28852037|PMID:2895981|PMID:29072585|PMID:2912069|PMID:29141760|PMID:29248304|PMID:29300386|PMID:29333274|PMID:29339739|PMID:30045279|PMID:30077011|PMID:30096395|PMID:30097005|PMID:30161219|PMID:30314477|PMID:30315739|PMID:30674319|PMID:31294066|PMID:31489982|PMID:31525211|PMID:31590661|PMID:31609781|PMID:31862010|PMID:31863082|PMID:3198117|PMID:3201886|PMID:32180910|PMID:32387609|PMID:32425388|PMID:32680472|PMID:32702756|PMID:32860008|PMID:33051526|PMID:33069889|PMID:33072997|PMID:3338798|PMID:33413378|PMID:33636823|PMID:3393536|PMID:3446582|PMID:34620237|PMID:34643346|PMID:34659341|PMID:34762759|PMID:34895177|PMID:34934109|PMID:34966093|PMID:35313968|PMID:35840819|PMID:3740052|PMID:4154774|PMID:4283789|PMID:4359638|PMID:4379606|PMID:4388132|PMID:4392654|PMID:4435794|PMID:4721339|PMID:472761|PMID:4837298|PMID:4974311|PMID:5081671|PMID:5305539|PMID:5369703|PMID:5413384|PMID:5448|PMID:5485383|PMID:5641629|PMID:5673160|PMID:5770172|PMID:5844610|PMID:6015571|PMID:6344088|PMID:6698555|PMID:6714978|PMID:6714986|PMID:7055648|PMID:7129446|PMID:7160841|PMID:7203486|PMID:7327562|PMID:736032|PMID:7390473|PMID:7440223|PMID:7577654|PMID:7590755|PMID:7789945|PMID:7803800|PMID:7806085|PMID:7825590|PMID:7858267|PMID:7947239|PMID:7947250|PMID:7949118|PMID:7959686|PMID:8118045|PMID:8193373|PMID:8244337|PMID:8364584 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:2862 glucosephosphate dehydrogenase deficiency ISO RGD:736474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: G6PD WALTER REED | ClinVar Annotator: match by term: G6PD deficiency | ClinVar Annotator: match by term: Glucose 6 phosphate dehydrogenase deficiency | ClinVar Annotator: match by term: Glucose-6-phosphate dehydrogenase deficiency | ClinVar Annotator: match by term: Hemolytic anemia due to G6PD deficiency PMID:8370579|PMID:8447319|PMID:8471773|PMID:848857|PMID:8490627|PMID:853376|PMID:8533762|PMID:8537082|PMID:8611726|PMID:8807321|PMID:8807322|PMID:8860013|PMID:8956035|PMID:9017974|PMID:9192788|PMID:9233561|PMID:9250351|PMID:9299858|PMID:9342374|PMID:9410474|PMID:9536098|PMID:9589612|PMID:9674740|PMID:9858856 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:3021 acute kidney failure ISO RGD:736474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4794122|PMID:602954|PMID:734759 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:3262 phagocyte bactericidal dysfunction ISO RGD:736474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4125296 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:3265 chronic granulomatous disease ISO RGD:736474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4125296 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:557 kidney disease treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:22549094|REF_RGD_ID:10449175 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:583 hemolytic anemia ISO RGD:736474 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hemolytic anemia PMID:12064901|PMID:25741868|PMID:29300386 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:5844 myocardial infarction treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:20462747|REF_RGD_ID:10449173 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:589 congenital hemolytic anemia ISO RGD:736474 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868|PMID:29300386|PMID:5316621 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:607 paraplegia ISO RGD:736474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:630 genetic disease ISO RGD:736474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10502785|PMID:10734064|PMID:10772881|PMID:10782016|PMID:11261779|PMID:11445808|PMID:11499668|PMID:11601226|PMID:11793482|PMID:11852882|PMID:12028056|PMID:12064920|PMID:12367584|PMID:12497642|PMID:1270075|PMID:12737938|PMID:12768444|PMID:1303173|PMID:14014720|PMID:14278484|PMID:14505231|PMID:1459579|PMID:15223006|PMID:15315792|PMID:15502081|PMID:1551674|PMID:15625830|PMID:15727905|PMID:15766741|PMID:15858258|PMID:15906717|PMID:16119988|PMID:16136268|PMID:16143877|PMID:16155737|PMID:1631957|PMID:16329560|PMID:16356170|PMID:16513531|PMID:16528451|PMID:16607506|PMID:16777444|PMID:16927025|PMID:17018380|PMID:17726510|PMID:18046504|PMID:1805484|PMID:18226470|PMID:18329300|PMID:18452027|PMID:18568599|PMID:18677765|PMID:1924316|PMID:1945893|PMID:1953767|PMID:19589177|PMID:19594365|PMID:1972698|PMID:1978554|PMID:1978555|PMID:1999409|PMID:20200584|PMID:20236109|PMID:20602793|PMID:21153663|PMID:21446359|PMID:21479984|PMID:21507207|PMID:21677401|PMID:21931771|PMID:22018328|PMID:22164279|PMID:22293322|PMID:22307442|PMID:22452742|PMID:2253938|PMID:22552160|PMID:22770933|PMID:22906047|PMID:22906837|PMID:22963789|PMID:23006493|PMID:23057857|PMID:23144702|PMID:2321910|PMID:23479361|PMID:2393028|PMID:23965028|PMID:24033266|PMID:24134566|PMID:24460025|PMID:24505519|PMID:24551785|PMID:24586352|PMID:2503817|PMID:25071003|PMID:25201310|PMID:25326637|PMID:25536053|PMID:25541721|PMID:25548459|PMID:2572288|PMID:25741868|PMID:25775246|PMID:26060661|PMID:26226515|PMID:2633878|PMID:26633385|PMID:26990548|PMID:27040960|PMID:27053284|PMID:27213370|PMID:27287612|PMID:27408423|PMID:27519946|PMID:27535533|PMID:27853304|PMID:27884173|PMID:27980749|PMID:28195434|PMID:2836867|PMID:28492532|PMID:2849540|PMID:28756180|PMID:28852037|PMID:29072585|PMID:2912069|PMID:29141760|PMID:29300386|PMID:29339739|PMID:30045279|PMID:30161219|PMID:30314477|PMID:30315739|PMID:31489982|PMID:31525211|PMID:31862010|PMID:31863082|PMID:3198117|PMID:32180910|PMID:32387609|PMID:32425388|PMID:32860008|PMID:33051526|PMID:33072997|PMID:3338798|PMID:33413378|PMID:33636823|PMID:3393536|PMID:3446582|PMID:34620237|PMID:34659341|PMID:34762759|PMID:34895177|PMID:34934109|PMID:34966093|PMID:35313968|PMID:35840819|PMID:4359638|PMID:4388132|PMID:4721339|PMID:4837298|PMID:4974311|PMID:5305539|PMID:5369703|PMID:5448|PMID:5641629|PMID:5673160|PMID:6015571|PMID:6698555|PMID:7203486|PMID:7327562|PMID:7390473|PMID:7577654|PMID:7590755|PMID:7803800|PMID:7949118|PMID:7959686|PMID:8193373|PMID:8244337|PMID:8370579|PMID:8447319|PMID:8471773|PMID:8611726|PMID:8860013|PMID:8956035|PMID:9017974|PMID:9192788|PMID:9233561|PMID:9250351|PMID:9342374|PMID:9589612|PMID:9858856 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:6713 cerebrovascular disease ISO RGD:736474 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell PMID:26072930|REF_RGD_ID:10449106 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:684 hepatocellular carcinoma ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:25473368|REF_RGD_ID:10449118 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736474 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:83 cataract treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:24886740|REF_RGD_ID:10449123 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:9000808 Hypercholesterolemia treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:21966115|REF_RGD_ID:10449170 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:9000972 Fever ISO RGD:736474 D RGD:9068941 20200609 RGD associated with Malaria, Falciparum;DNA:SNP: :rs1050829 (human) PMID:24934404|REF_RGD_ID:10449114 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:9000998 Brain Injuries ISO RGD:2645 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:18501200|REF_RGD_ID:2307353 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2645 D RGD:9068941 20200609 RGD associated with Hypertension PMID:21987533|REF_RGD_ID:10449128 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:9002532 Neonatal Hyperbilirubinemia ISO RGD:736474 D RGD:9068941 20200609 RGD protein:decreased activity:blood PMID:25092943|REF_RGD_ID:10449110 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:9002720 Splenomegaly ISO RGD:736474 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:9003603 Hemolysis ISO RGD:736474 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: G6PD GIFU PMID:10502785|PMID:10643148|PMID:11024211|PMID:11499668|PMID:11793482|PMID:12497642|PMID:1562739|PMID:15727905|PMID:16329560|PMID:16607506|PMID:16832|PMID:17587269|PMID:17726510|PMID:20203002|PMID:21446359|PMID:21874587|PMID:22164279|PMID:22171972|PMID:2263506|PMID:22963789|PMID:25440321|PMID:25541721|PMID:25741868|PMID:25775246|PMID:26823837|PMID:28492532|PMID:29300386|PMID:30045279|PMID:31489982|PMID:31862010|PMID:31863082|PMID:33636823|PMID:35840819|PMID:4283789|PMID:4379606|PMID:4435794|PMID:4721339|PMID:5485383|PMID:6714986|PMID:7440223|PMID:7590755|PMID:7803800|PMID:8244337|PMID:8471773|PMID:8537082|PMID:9589612 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:9004009 Reperfusion Injury ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:17250641|REF_RGD_ID:2307361 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:9005181 Multi-Infarct Dementia treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:21279683|REF_RGD_ID:10449132 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2645 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:19374864|REF_RGD_ID:2307337 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2645 D RGD:9068941 20200609 RGD protein:increased expression:lens PMID:16718375|REF_RGD_ID:2307345 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:25116122|REF_RGD_ID:10449121 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:25063801|REF_RGD_ID:10449119 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:9006411 Testicular Injury treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:25446862|REF_RGD_ID:10401887 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:9006599 Hypertriglyceridemia treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:22947172|REF_RGD_ID:10449176 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:9006646 Metabolic Syndrome ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:19374165|REF_RGD_ID:2307350 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:24868532|REF_RGD_ID:10449117 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:9006693 ALAD-Deficiency Porphyria ISO RGD:2645 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:23390166|REF_RGD_ID:10449130 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:21864513|REF_RGD_ID:10449168 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:9007692 Insulin Resistance ISO RGD:2645 D RGD:9068941 20200609 RGD associated with Obesity;protein:increased expression:pancreas PMID:23015612|REF_RGD_ID:10449129 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:9008691 Liver Injury treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:20950607|REF_RGD_ID:10449174 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:9279 hyperhomocysteinemia ISO RGD:2645 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:21717134|REF_RGD_ID:10449171 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:9281 phenylketonuria ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:24488205|REF_RGD_ID:10449120 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:9351 diabetes mellitus ISO RGD:736474 D RGD:9068941 20200609 RGD protein:decreased activity:blood PMID:24865682|REF_RGD_ID:10449112 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:9352 type 2 diabetes mellitus ISO RGD:736474 D RGD:9068941 20200609 RGD protein:decreased expression:reticulocyte, erythrocyte PMID:12853069|REF_RGD_ID:2307349 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:9744 type 1 diabetes mellitus ISO RGD:736474 D RGD:9068941 20200609 RGD protein:decreased expression:erythrocyte PMID:15914531|REF_RGD_ID:2307348 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:9970 obesity ISO RGD:10608 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:white fat PMID:15923630|REF_RGD_ID:2307347 11717527 G6PD glucose-6-phosphate dehydrogenase gene DOID:9970 obesity ISO RGD:2645 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:liver PMID:19230846|REF_RGD_ID:2307340 11717569 USP40 ubiquitin specific peptidase 40 gene DOID:0060476 Perlman syndrome ISO RGD:1320045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11717569 USP40 ubiquitin specific peptidase 40 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1320045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11717569 USP40 ubiquitin specific peptidase 40 gene DOID:630 genetic disease ISO RGD:1320045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11717606 HNF4G hepatocyte nuclear factor 4 gamma gene DOID:630 genetic disease ISO RGD:1320814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11717620 TRMT112 tRNA methyltransferase activator subunit 11-2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1604820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11717620 TRMT112 tRNA methyltransferase activator subunit 11-2 gene DOID:1059 intellectual disability ISO RGD:1604820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11717620 TRMT112 tRNA methyltransferase activator subunit 11-2 gene DOID:3070 high grade glioma ISO RGD:1604820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11717620 TRMT112 tRNA methyltransferase activator subunit 11-2 gene DOID:630 genetic disease ISO RGD:1604820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11717687 YRDC yrdC N6-threonylcarbamoyltransferase domain containing gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11717687 YRDC yrdC N6-threonylcarbamoyltransferase domain containing gene DOID:630 genetic disease ISO RGD:1606217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11717687 YRDC yrdC N6-threonylcarbamoyltransferase domain containing gene DOID:9002926 Galloway-Mowat Syndrome 10 ISO RGD:1606217 D RGD:7240710 20211201 OMIM 11717687 YRDC yrdC N6-threonylcarbamoyltransferase domain containing gene DOID:9002926 Galloway-Mowat Syndrome 10 ISO RGD:1606217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 PMID:31481669|PMID:34545459 11717701 HDHD3 haloacid dehalogenase like hydrolase domain containing 3 gene DOID:630 genetic disease ISO RGD:1351910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:21887725|PMID:25741868|PMID:26820365|PMID:28492532|PMID:30391667|PMID:30535908 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0050451 Brugada syndrome ISO RGD:1348019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:17576681|PMID:20562447|PMID:21887725|PMID:23382873|PMID:25741868|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:29618732|PMID:29706348|PMID:30021168|PMID:30142439|PMID:619595|PMID:9536098 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0050562 West syndrome ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypsarrhythmia PMID:25741868|PMID:28492532 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0050700 cardiomyopathy ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:21887725|PMID:23382873|PMID:25467552|PMID:25741868|PMID:26820365|PMID:27207958|PMID:27711072|PMID:28492532 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0050793 short QT syndrome ISO RGD:1348019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Short QT syndrome PMID:25741868 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0050820 atrioventricular block ISO RGD:1348019 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:32681584|PMID:33959666 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0060319 cardiac arrest ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:28492532 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0060319 cardiac arrest treatment ISO RGD:620244 D RGD:9068941 20200609 RGD PMID:26010685|REF_RGD_ID:12791997 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0080766 erythrokeratodermia variabilis et progressiva 6 ISO RGD:1348019 D RGD:7240710 20190904 OMIM 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0080766 erythrokeratodermia variabilis et progressiva 6 ISO RGD:1348019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 6 PMID:16199547|PMID:17576681|PMID:25299611|PMID:25741868|PMID:26046366|PMID:26820365|PMID:28492532|PMID:28750076|PMID:29247119|PMID:30391667|PMID:30528822|PMID:30535908|PMID:30615648|PMID:30847666|PMID:9536098 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0111073 progressive familial heart block ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: Progressive familial heart block PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0111074 progressive familial heart block type IA ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA PMID:20562447|PMID:21887725|PMID:28492532|PMID:30021168|PMID:619595 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0111074 progressive familial heart block type IA ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0111076 progressive familial heart block type IB ISO RGD:1348019 D RGD:7240710 20180130 OMIM 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0111076 progressive familial heart block type IB ISO RGD:1348019 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type 1B | ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:16199547|PMID:17576681|PMID:19726882|PMID:20075334|PMID:20562447|PMID:21173080|PMID:21887725|PMID:22750058|PMID:23382873|PMID:24019741|PMID:25231975|PMID:25299611|PMID:25416190|PMID:25441424|PMID:25467552|PMID:25640679|PMID:25741868|PMID:26046366|PMID:26272755|PMID:26350513|PMID:26383259|PMID:26636822|PMID:26704558|PMID:26820365|PMID:27181684|PMID:27207958|PMID:27711072|PMID:27727376|PMID:27884173|PMID:28074886|PMID:28315637|PMID:28341588|PMID:28492532|PMID:28494446|PMID:28750076|PMID:28831623|PMID:29181379|PMID:29247119|PMID:29568272|PMID:29618732|PMID:29706348|PMID:29748318|PMID:30021168|PMID:30142439|PMID:30391667|PMID:30528822|PMID:30535908|PMID:30615648|PMID:30662450|PMID:30847666|PMID:32508047|PMID:33466149|PMID:35932045|PMID:619595|PMID:897853|PMID:9536098 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:10273 heart conduction disease ISO RGD:1348019 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conduction system disorder PMID:28492532 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1348019 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23382873|PMID:25741868|PMID:28492532 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:13620 patent foramen ovale ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Patent foramen ovale PMID:25741868|PMID:28492532 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:1826 epilepsy ISO RGD:1348019 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:2661 myoepithelioma ISO RGD:1348019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:2843 long QT syndrome ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1348019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:397 restrictive cardiomyopathy ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:25741868|PMID:28492532 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:6000 congestive heart failure ISO RGD:1348019 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:33594499 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:630 genetic disease ISO RGD:1348019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21887725|PMID:25741868|PMID:28492532|PMID:32037394 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:620244 D RGD:9068941 20200609 RGD PMID:19169264|PMID:25763638|REF_RGD_ID:10003030|REF_RGD_ID:12791993 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:21887725|PMID:25741868|PMID:26820365|PMID:28492532 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:620244 D RGD:9068941 20200609 RGD protein:increased expression:entorhinal cortex PMID:24114458|REF_RGD_ID:10003028 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:9001276 Failure to Thrive ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:28492532 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:21887725|PMID:23382873|PMID:25416190|PMID:25741868|PMID:28492532 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:9002554 Tachycardia ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Tachycardia PMID:25741868|PMID:28492532 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1348019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:17576681|PMID:20562447|PMID:21887725|PMID:23382873|PMID:25741868|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:29618732|PMID:29706348|PMID:30021168|PMID:30142439|PMID:619595|PMID:9536098 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:9003163 Heart Block ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:21887725|PMID:23382873|PMID:25416190|PMID:25741868|PMID:28492532 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:9003936 Cardiomegaly ISO RGD:620244 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:16966582|REF_RGD_ID:10003036 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:9004659 Respiration Disorders ISO RGD:1348019 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:30789900 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28492532 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:9007001 Bradycardia ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Bradycardia PMID:25741868|PMID:28492532 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:9007820 Sudden Death ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:25741868 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Family history of sudden cardiac death | ClinVar Annotator: match by term: Sudden cardiac death PMID:21887725|PMID:23382873|PMID:24019741|PMID:25416190|PMID:25741868|PMID:26350513|PMID:28074886|PMID:28492532|PMID:30142439 11717713 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:9009094 Progressive Familial Heart Block Type I ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Heart block progressive familial type 1 PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 11717741 SPIN4 spindlin family member 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11717741 SPIN4 spindlin family member 4 gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1602297 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:9383023 11717741 SPIN4 spindlin family member 4 gene DOID:12849 autistic disorder ISO RGD:1602297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11717746 TUBA1C tubulin alpha 1c gene DOID:11476 osteoporosis ISO RGD:1606486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 11717746 TUBA1C tubulin alpha 1c gene DOID:630 genetic disease ISO RGD:1606486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11717746 TUBA1C tubulin alpha 1c gene DOID:9000217 Stomach Neoplasms ISO RGD:1606486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 11717746 TUBA1C tubulin alpha 1c gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1606486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 11717758 UTS2B urotensin 2B gene DOID:5419 schizophrenia ISO RGD:1603529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11717758 UTS2B urotensin 2B gene DOID:630 genetic disease ISO RGD:1603529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11717774 PSEN2 presenilin 2 gene DOID:0080600 COVID-19 ISO RGD:733569 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11717774 PSEN2 presenilin 2 gene DOID:0110040 Alzheimer's disease 4 ISO RGD:733569 D RGD:7240710 20180130 OMIM 11717774 PSEN2 presenilin 2 gene DOID:0110040 Alzheimer's disease 4 ISO RGD:733569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Alzheimer disease 4 PMID:10631141|PMID:10732806|PMID:10846187|PMID:11193137|PMID:11723295|PMID:12549925|PMID:12925374|PMID:14623725|PMID:14681895|PMID:14769392|PMID:15055444|PMID:15130954|PMID:15258222|PMID:15389756|PMID:15663477|PMID:15776278|PMID:16155344|PMID:16199547|PMID:16474849|PMID:16533963|PMID:16959576|PMID:17186461|PMID:17345043|PMID:17576681|PMID:17914065|PMID:18350357|PMID:18427071|PMID:18667258|PMID:18727676|PMID:18833506|PMID:18834536|PMID:19073399|PMID:19659892|PMID:19768372|PMID:20194882|PMID:20301414|PMID:20333730|PMID:20375137|PMID:20420489|PMID:20457965|PMID:20458010|PMID:20634584|PMID:21234330|PMID:21409510|PMID:21483645|PMID:21544564|PMID:21559247|PMID:21911706|PMID:21959359|PMID:22115042|PMID:22118943|PMID:22221884|PMID:22249458|PMID:22312439|PMID:22412221|PMID:22475797|PMID:22503161|PMID:22505025|PMID:22753229|PMID:22805202|PMID:22834455|PMID:23365231|PMID:23383383|PMID:23558482|PMID:23861362|PMID:23990795|PMID:24093083|PMID:24559647|PMID:24594196|PMID:24669286|PMID:24704512|PMID:24754482|PMID:24844686|PMID:24880964|PMID:24928124|PMID:25104557|PMID:25323700|PMID:25604855|PMID:25741868|PMID:25937274|PMID:26159191|PMID:26166204|PMID:26220970|PMID:26242991|PMID:26410308|PMID:26467025|PMID:26507310|PMID:26522186|PMID:26836416|PMID:26899768|PMID:27293189|PMID:27883225|PMID:28008242|PMID:28166811|PMID:28191889|PMID:28243073|PMID:28350801|PMID:28492532|PMID:29692703|PMID:30021643|PMID:30045758|PMID:30279455|PMID:30412492|PMID:30598257|PMID:30636737|PMID:30822634|PMID:30822648|PMID:30954774|PMID:31020001|PMID:31914229|PMID:32032730|PMID:32087291|PMID:32317127|PMID:32345996|PMID:32917274|PMID:35328387|PMID:7550356|PMID:7638622|PMID:7651536|PMID:8661049|PMID:8939861|PMID:8986743|PMID:9050898|PMID:9384602|PMID:9450781|PMID:9536098|PMID:9813158 11717774 PSEN2 presenilin 2 gene DOID:0110427 dilated cardiomyopathy 1V ISO RGD:733569 D RGD:7240710 20180130 OMIM 11717774 PSEN2 presenilin 2 gene DOID:0110427 dilated cardiomyopathy 1V ISO RGD:733569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1V PMID:14623725|PMID:14769392|PMID:15130954|PMID:15663477|PMID:16474849|PMID:17186461|PMID:17345043|PMID:17914065|PMID:18350357|PMID:18667258|PMID:18727676|PMID:19659892|PMID:19768372|PMID:20194882|PMID:20375137|PMID:20420489|PMID:20458010|PMID:21409510|PMID:21483645|PMID:21544564|PMID:21959359|PMID:22118943|PMID:22221884|PMID:22312439|PMID:22412221|PMID:22475797|PMID:22503161|PMID:22753229|PMID:22834455|PMID:23383383|PMID:23558482|PMID:23861362|PMID:23990795|PMID:24559647|PMID:24669286|PMID:24754482|PMID:24844686|PMID:24880964|PMID:25104557|PMID:25604855|PMID:25741868|PMID:25937274|PMID:26159191|PMID:26242991|PMID:26410308|PMID:26467025|PMID:26507310|PMID:26899768|PMID:28008242|PMID:28191889|PMID:28492532|PMID:30045758|PMID:30279455|PMID:30598257|PMID:30636737|PMID:31914229|PMID:32032730|PMID:32087291|PMID:32345996|PMID:32917274|PMID:9384602 11717774 PSEN2 presenilin 2 gene DOID:0111907 thrombophilia due to thrombin defect ISO RGD:733569 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Thrombophilia due to thrombin defect PMID:25741868 11717774 PSEN2 presenilin 2 gene DOID:10652 Alzheimer's disease ISO RGD:733569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease PMID:11723295|PMID:14623725|PMID:15130954|PMID:15663477|PMID:16474849|PMID:17186461|PMID:17345043|PMID:17914065|PMID:18667258|PMID:19768372|PMID:20194882|PMID:21409510|PMID:22221884|PMID:22312439|PMID:22475797|PMID:22503161|PMID:23383383|PMID:23558482|PMID:23861362|PMID:23990795|PMID:24880964|PMID:25104557|PMID:25604855|PMID:25741868|PMID:25937274|PMID:26159191|PMID:26242991|PMID:26410308|PMID:26467025|PMID:26507310|PMID:26836416|PMID:26899768|PMID:28492532|PMID:30045758|PMID:30279455|PMID:31914229|PMID:32032730|PMID:32087291|PMID:32345996|PMID:32917274|PMID:9384602 11717774 PSEN2 presenilin 2 gene DOID:10652 Alzheimer's disease severity ISO RGD:733569 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.N141I (human) PMID:10976645|REF_RGD_ID:9743900 11717774 PSEN2 presenilin 2 gene DOID:11088 asphyxia neonatorum ISO RGD:733569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963755 11717774 PSEN2 presenilin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:733569 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:20458010|PMID:21483645|PMID:22412221|PMID:24754482|PMID:28492532 11717774 PSEN2 presenilin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:733569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11717774 PSEN2 presenilin 2 gene DOID:1612 breast cancer susceptibility ISO RGD:733569 D RGD:9068941 20200609 RGD protein:amino acid substitution:R62H, R71W PMID:16474849|REF_RGD_ID:2302525 11717774 PSEN2 presenilin 2 gene DOID:3770 pulmonary fibrosis ISO RGD:733570 D RGD:9068941 20200609 RGD PMID:10518543|REF_RGD_ID:1302521 11717774 PSEN2 presenilin 2 gene DOID:630 genetic disease ISO RGD:733569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11717774 PSEN2 presenilin 2 gene DOID:8725 vascular dementia ISO RGD:733569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:33268848 11717774 PSEN2 presenilin 2 gene DOID:9003202 Pulmonary Hemorrhage ISO RGD:733570 D RGD:9068941 20200609 RGD PMID:10518543|REF_RGD_ID:1302521 11717774 PSEN2 presenilin 2 gene DOID:9007282 Huntington's Disease-Like Syndrome ISO RGD:733569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Huntington disease-like syndrome PMID:28492532|PMID:30279455|PMID:30822634 11717774 PSEN2 presenilin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11717792 MZF1 myeloid zinc finger 1 gene DOID:630 genetic disease ISO RGD:1318132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11717833 RGSL1 regulator of G protein signaling like 1 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1353178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 11717833 RGSL1 regulator of G protein signaling like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1353178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11717833 RGSL1 regulator of G protein signaling like 1 gene DOID:630 genetic disease ISO RGD:1353178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11717833 RGSL1 regulator of G protein signaling like 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1353178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11717833 RGSL1 regulator of G protein signaling like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11717865 SLC35G2 solute carrier family 35 member G2 gene DOID:1909 melanoma ISO RGD:1314532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 11717865 SLC35G2 solute carrier family 35 member G2 gene DOID:630 genetic disease ISO RGD:1314532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11717865 SLC35G2 solute carrier family 35 member G2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1314532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 11717879 MARK2 microtubule affinity regulating kinase 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1344457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11717879 MARK2 microtubule affinity regulating kinase 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1344457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11717879 MARK2 microtubule affinity regulating kinase 2 gene DOID:1059 intellectual disability ISO RGD:1344457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11717879 MARK2 microtubule affinity regulating kinase 2 gene DOID:12849 autistic disorder ISO RGD:1344457 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:35982159 11717879 MARK2 microtubule affinity regulating kinase 2 gene DOID:3070 high grade glioma ISO RGD:1344457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11717879 MARK2 microtubule affinity regulating kinase 2 gene DOID:630 genetic disease ISO RGD:1344457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11717879 MARK2 microtubule affinity regulating kinase 2 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1344457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11717879 MARK2 microtubule affinity regulating kinase 2 gene DOID:9008582 Developmental Disease ISO RGD:1344457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11717926 ERMARD ER membrane associated RNA degradation gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1319689 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11717926 ERMARD ER membrane associated RNA degradation gene DOID:1826 epilepsy ISO RGD:1319689 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11717926 ERMARD ER membrane associated RNA degradation gene DOID:630 genetic disease ISO RGD:1319689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11717926 ERMARD ER membrane associated RNA degradation gene DOID:9004295 Periventricular Nodular Heterotopia 6 ISO RGD:1319689 D RGD:7240710 20180130 OMIM 11717926 ERMARD ER membrane associated RNA degradation gene DOID:9004295 Periventricular Nodular Heterotopia 6 ISO RGD:1319689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia 6 PMID:24056535|PMID:25741868|PMID:28492532 11717956 TRIM33 tripartite motif containing 33 gene DOID:0080690 RASopathy ISO RGD:1316478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11717956 TRIM33 tripartite motif containing 33 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1316478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 11717956 TRIM33 tripartite motif containing 33 gene DOID:2394 ovarian cancer ISO RGD:1316478 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 11717956 TRIM33 tripartite motif containing 33 gene DOID:630 genetic disease ISO RGD:1316478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11717983 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:0050477 Liddle syndrome ISO RGD:736324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23348737 11717983 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:0060041 autism spectrum disorder ISO RGD:736324 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11717983 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:736324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11717983 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 ISO RGD:736324 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 PMID:10510337|PMID:10523338|PMID:10586178|PMID:11978598|PMID:1506904|PMID:15734793|PMID:16249274|PMID:19462466|PMID:20194130|PMID:21889619|PMID:21917531|PMID:23149595|PMID:24033266|PMID:25741868|PMID:26668308|PMID:27582106|PMID:28492532|PMID:28710092|PMID:8589714 11717983 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:0080526 bronchiectasis 1 ISO RGD:736324 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 PMID:25741868 11717983 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:0080527 bronchiectasis 2 ISO RGD:736324 D RGD:7240710 20180130 OMIM 11717983 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:0080527 bronchiectasis 2 ISO RGD:736324 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2 | ClinVar Annotator: match by term: Idiopathic bronchiectasis PMID:10403853|PMID:10510337|PMID:10523338|PMID:11978598|PMID:1506904|PMID:15734793|PMID:16249274|PMID:19462466|PMID:20194130|PMID:21889619|PMID:21917531|PMID:23149595|PMID:23392097|PMID:24033266|PMID:25741868|PMID:26668308|PMID:27582106|PMID:28492532|PMID:8589714|PMID:9654209 11717983 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:736324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11717983 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:0090018 autosomal dominant familial periodic fever ISO RGD:736324 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) PMID:25741868 11717983 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:0111621 Temtamy syndrome ISO RGD:736324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11717983 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:10283 prostate cancer ISO RGD:736324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11717983 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:10591 pre-eclampsia ISO RGD:736324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16555725 11717983 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:10763 hypertension ISO RGD:736324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11752024|PMID:23348737 11717983 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:11612 polycystic ovary syndrome ISO RGD:736324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11717983 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:1184 nephrotic syndrome ISO RGD:3639 D RGD:9068941 20200609 RGD PMID:15075188|REF_RGD_ID:1624161 11717983 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:1485 cystic fibrosis ISO RGD:736324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15077107|PMID:19462466 11717983 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:2935 Chediak-Higashi syndrome ISO RGD:736324 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:25741868 11717983 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:2987 familial Mediterranean fever ISO RGD:736324 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Familial Mediterranean fever | ClinVar Annotator: match by term: Familial Periodic Fever PMID:25741868 11717983 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:4479 pseudohypoaldosteronism ISO RGD:736324 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pseudohypoaldosteronism PMID:25741868 11717983 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:576 proteinuria ISO RGD:736324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11752024 11717983 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:630 genetic disease ISO RGD:736324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 11717983 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:769 neuroblastoma disease_progression ISO RGD:736324 D RGD:9068941 20200609 RGD Low levels of methylation correlate with improved survival PMID:21314941|REF_RGD_ID:5509791 11717983 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:850 lung disease ISO RGD:736324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15077107|PMID:19462466 11717983 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:736324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16168501 11717983 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:9001276 Failure to Thrive ISO RGD:736324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:28492532 11717983 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:9006963 Pseudohypoaldosteronism Type IB1, Autosomal Recessive ISO RGD:736324 D RGD:7240710 20221207 OMIM 11717983 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:9007096 Stroke ISO RGD:736324 D RGD:9068941 20200609 RGD PMID:15734793|REF_RGD_ID:5509790 11717983 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:736324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11717983 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:9009241 Liddle Syndrome 3 ISO RGD:736324 D RGD:7240710 20190315 OMIM 11717983 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:9009241 Liddle Syndrome 3 ISO RGD:736324 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Liddle syndrome 3 PMID:10523338|PMID:1506904|PMID:21889619|PMID:23149595|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28710092 11718006 MRGPRX4 MAS related GPR family member X4 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1603278 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 11718006 MRGPRX4 MAS related GPR family member X4 gene DOID:1059 intellectual disability ISO RGD:1603278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11718006 MRGPRX4 MAS related GPR family member X4 gene DOID:630 genetic disease ISO RGD:1603278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718016 LHFPL6 LHFPL tetraspan subfamily member 6 gene DOID:630 genetic disease ISO RGD:1347444 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718016 LHFPL6 LHFPL tetraspan subfamily member 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347444 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11718024 SS18L1 SS18L1 subunit of BAF chromatin remodeling complex gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1345361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 11718024 SS18L1 SS18L1 subunit of BAF chromatin remodeling complex gene DOID:630 genetic disease ISO RGD:1345361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718077 MEGF11 multiple EGF like domains 11 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1603600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11718077 MEGF11 multiple EGF like domains 11 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11718077 MEGF11 multiple EGF like domains 11 gene DOID:2717 Bloom syndrome ISO RGD:1603600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11718077 MEGF11 multiple EGF like domains 11 gene DOID:630 genetic disease ISO RGD:1603600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718077 MEGF11 multiple EGF like domains 11 gene DOID:9256 colorectal cancer ISO RGD:1603600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11718124 FOXH1 forkhead box H1 gene DOID:0050545 visceral heterotaxy ISO RGD:1322646 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 11718124 FOXH1 forkhead box H1 gene DOID:0060341 agnathia-otocephaly complex ISO RGD:1322646 D RGD:9068941 20220825 MouseDO OMIM:202650 11718124 FOXH1 forkhead box H1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1322645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11718124 FOXH1 forkhead box H1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1322645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11718124 FOXH1 forkhead box H1 gene DOID:4621 holoprosencephaly ISO RGD:1322645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:18538293|PMID:25741868|PMID:28492532 11718124 FOXH1 forkhead box H1 gene DOID:630 genetic disease ISO RGD:1322645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11718124 FOXH1 forkhead box H1 gene DOID:6419 tetralogy of Fallot ISO RGD:1322645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25093829 11718124 FOXH1 forkhead box H1 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1322645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Conotruncal defect PMID:25741868|PMID:32003456 11718132 MRPL18 mitochondrial ribosomal protein L18 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1314973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 11718132 MRPL18 mitochondrial ribosomal protein L18 gene DOID:630 genetic disease ISO RGD:1314973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718140 NLRP10 NLR family pyrin domain containing 10 gene DOID:630 genetic disease ISO RGD:1316559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718144 MPV17L MPV17 mitochondrial inner membrane protein like gene DOID:12849 autistic disorder ISO RGD:1606418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11718144 MPV17L MPV17 mitochondrial inner membrane protein like gene DOID:1826 epilepsy ISO RGD:1606418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11718144 MPV17L MPV17 mitochondrial inner membrane protein like gene DOID:5419 schizophrenia ISO RGD:1606418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11718144 MPV17L MPV17 mitochondrial inner membrane protein like gene DOID:630 genetic disease ISO RGD:1606418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718144 MPV17L MPV17 mitochondrial inner membrane protein like gene DOID:8445 intestinal volvulus ISO RGD:1606418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11718144 MPV17L MPV17 mitochondrial inner membrane protein like gene DOID:9000664 Familial Thoracic Aortic Aneurysm 4 ISO RGD:1606418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:22318994|PMID:27884122|PMID:28492532|PMID:29179725 11718144 MPV17L MPV17 mitochondrial inner membrane protein like gene DOID:9008419 Volvulus Of Midgut ISO RGD:1606418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11718151 MDM1 Mdm1 nuclear protein gene DOID:10871 age related macular degeneration ISO RGD:1621610 D RGD:9068941 20220825 MouseDO 11718151 MDM1 Mdm1 nuclear protein gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:1621610 D RGD:9068941 20200609 RGD DNA, mRNA:nonsense mutation, decreased expression:retina PMID:18805803|REF_RGD_ID:10412062 11718151 MDM1 Mdm1 nuclear protein gene DOID:630 genetic disease ISO RGD:1352515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718176 LYZL6 lysozyme like 6 gene DOID:630 genetic disease ISO RGD:1342780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718190 PLEKHG7 pleckstrin homology and RhoGEF domain containing G7 gene DOID:630 genetic disease ISO RGD:1604901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718206 FUT9 fucosyltransferase 9 gene DOID:630 genetic disease ISO RGD:732098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718225 SPTLC2 serine palmitoyltransferase long chain base subunit 2 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1354205 D RGD:7240710 20180130 OMIM 11718225 SPTLC2 serine palmitoyltransferase long chain base subunit 2 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1354205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:17081983|PMID:17576681|PMID:19564159|PMID:20920666|PMID:23658386|PMID:24175284|PMID:25567748|PMID:25640679|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26573920|PMID:26681808|PMID:27066551|PMID:27549087|PMID:28166811|PMID:28492532|PMID:28902413|PMID:29042446|PMID:29184351|PMID:30373780|PMID:30866134|PMID:30955194|PMID:30995999|PMID:31509666|PMID:31692161|PMID:32730653|PMID:9536098 11718225 SPTLC2 serine palmitoyltransferase long chain base subunit 2 gene DOID:0080600 COVID-19 ISO RGD:1354205 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11718225 SPTLC2 serine palmitoyltransferase long chain base subunit 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1354205 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:17081983|PMID:25567748|PMID:25741868|PMID:26681808|PMID:28492532|PMID:28902413|PMID:29184351|PMID:30866134|PMID:30955194|PMID:30995999|PMID:31509666|PMID:32730653 11718225 SPTLC2 serine palmitoyltransferase long chain base subunit 2 gene DOID:630 genetic disease ISO RGD:1354205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19564159|PMID:25741868|PMID:26392352|PMID:26573920|PMID:28166811|PMID:28492532|PMID:29042446|PMID:30373780|PMID:31692161|PMID:9536098 11718225 SPTLC2 serine palmitoyltransferase long chain base subunit 2 gene DOID:8893 psoriasis ISO RGD:1614415 D RGD:9068941 20220825 MouseDO OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106 11718299 GSC2 goosecoid homeobox 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1313301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11718299 GSC2 goosecoid homeobox 2 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1313301 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 11718299 GSC2 goosecoid homeobox 2 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1313301 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 11718299 GSC2 goosecoid homeobox 2 gene DOID:0111996 immunodeficiency 51 ISO RGD:1313301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11718299 GSC2 goosecoid homeobox 2 gene DOID:1059 intellectual disability ISO RGD:1313301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11718299 GSC2 goosecoid homeobox 2 gene DOID:11198 DiGeorge syndrome ISO RGD:1313301 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 11718299 GSC2 goosecoid homeobox 2 gene DOID:11372 megacolon ISO RGD:1313301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11718299 GSC2 goosecoid homeobox 2 gene DOID:12583 velocardiofacial syndrome ISO RGD:1313301 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 11718299 GSC2 goosecoid homeobox 2 gene DOID:12849 autistic disorder ISO RGD:1313301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11718299 GSC2 goosecoid homeobox 2 gene DOID:1826 epilepsy ISO RGD:1313301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11718299 GSC2 goosecoid homeobox 2 gene DOID:5419 schizophrenia ISO RGD:1313301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11718299 GSC2 goosecoid homeobox 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1313301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11718299 GSC2 goosecoid homeobox 2 gene DOID:630 genetic disease ISO RGD:1313301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718299 GSC2 goosecoid homeobox 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11718299 GSC2 goosecoid homeobox 2 gene DOID:9007661 Dwarfism ISO RGD:1313301 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11718299 GSC2 goosecoid homeobox 2 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1313301 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11718309 FAM186A family with sequence similarity 186 member A gene DOID:630 genetic disease ISO RGD:2301117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718320 RSRC2 arginine and serine rich coiled-coil 2 gene DOID:630 genetic disease ISO RGD:1606784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718320 RSRC2 arginine and serine rich coiled-coil 2 gene DOID:9970 obesity ISO RGD:1606784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity 11718348 SCAMP5 secretory carrier membrane protein 5 gene DOID:12849 autistic disorder ISO RGD:1343509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20071347 11718348 SCAMP5 secretory carrier membrane protein 5 gene DOID:1826 epilepsy ISO RGD:68504 D RGD:9068941 20220825 MouseDO 11718348 SCAMP5 secretory carrier membrane protein 5 gene DOID:2717 Bloom syndrome ISO RGD:1343509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11718348 SCAMP5 secretory carrier membrane protein 5 gene DOID:5419 schizophrenia ISO RGD:1343509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11718348 SCAMP5 secretory carrier membrane protein 5 gene DOID:630 genetic disease ISO RGD:1343509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31439720|PMID:32020363|PMID:33390987 11718348 SCAMP5 secretory carrier membrane protein 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1343509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:31439720|PMID:33390987 11718348 SCAMP5 secretory carrier membrane protein 5 gene DOID:9256 colorectal cancer ISO RGD:1343509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11718365 EXOC2 exocyst complex component 2 gene DOID:10283 prostate cancer ISO RGD:1348584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11718365 EXOC2 exocyst complex component 2 gene DOID:630 genetic disease ISO RGD:1348584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718365 EXOC2 exocyst complex component 2 gene DOID:9007202 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA ISO RGD:1348584 D RGD:7240710 20210623 OMIM 11718365 EXOC2 exocyst complex component 2 gene DOID:9007202 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA ISO RGD:1348584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia PMID:32639540 11718418 CACNA1I calcium voltage-gated channel subunit alpha1 I gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:68996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11718418 CACNA1I calcium voltage-gated channel subunit alpha1 I gene DOID:0060001 withdrawal disorder treatment ISO RGD:1621299 D RGD:9068941 20200609 RGD PMID:25871318|REF_RGD_ID:14995950 11718418 CACNA1I calcium voltage-gated channel subunit alpha1 I gene DOID:0080297 Coffin-Siris syndrome 6 ISO RGD:68996 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 6 PMID:25741868 11718418 CACNA1I calcium voltage-gated channel subunit alpha1 I gene DOID:10908 hydrocephalus ISO RGD:68996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868 11718418 CACNA1I calcium voltage-gated channel subunit alpha1 I gene DOID:11446 sciatic neuropathy ISO RGD:68944 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal root ganglion PMID:22972512|REF_RGD_ID:15042903 11718418 CACNA1I calcium voltage-gated channel subunit alpha1 I gene DOID:5419 schizophrenia ISO RGD:68996 D RGD:9068941 20200609 RGD DNA:SNP: :rs4522708 (human) PMID:29308060|REF_RGD_ID:15042891 11718418 CACNA1I calcium voltage-gated channel subunit alpha1 I gene DOID:5419 schizophrenia ISO RGD:68996 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:28725167|REF_RGD_ID:15042892 11718418 CACNA1I calcium voltage-gated channel subunit alpha1 I gene DOID:630 genetic disease ISO RGD:68996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718418 CACNA1I calcium voltage-gated channel subunit alpha1 I gene DOID:9001736 Neurodevelopmental Disorder with Speech Impairment and with or without Seizures ISO RGD:68996 D RGD:7240710 20221123 OMIM 11718418 CACNA1I calcium voltage-gated channel subunit alpha1 I gene DOID:9001736 Neurodevelopmental Disorder with Speech Impairment and with or without Seizures ISO RGD:68996 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with speech impairment and with or without seizures PMID:33704440 11718418 CACNA1I calcium voltage-gated channel subunit alpha1 I gene DOID:9002211 Hyperalgesia ISO RGD:68944 D RGD:9068941 20200609 RGD PMID:17112407|REF_RGD_ID:15003199 11718418 CACNA1I calcium voltage-gated channel subunit alpha1 I gene DOID:9008086 Developmental Disabilities ISO RGD:68996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11718418 CACNA1I calcium voltage-gated channel subunit alpha1 I gene DOID:9009131 Ventriculomegaly ISO RGD:68996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868 11718457 TWNK twinkle mtDNA helicase gene DOID:0050823 third-degree atrioventricular block ISO RGD:1317337 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Third degree atrioventricular block 11718457 TWNK twinkle mtDNA helicase gene DOID:0050857 Perrault syndrome ISO RGD:1317337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perrault syndrome PMID:25355836|PMID:25741868|PMID:26206283|PMID:26467025|PMID:26970254|PMID:27650058|PMID:28178980|PMID:28492532|PMID:29458409|PMID:30799093|PMID:31055809|PMID:31852434|PMID:32281099|PMID:32619254|PMID:33095980 11718457 TWNK twinkle mtDNA helicase gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:1317337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia PMID:17614277|PMID:20479361|PMID:20659899|PMID:21689831|PMID:24018892|PMID:25355836|PMID:25741868|PMID:26206283|PMID:26467025|PMID:26970254|PMID:27551684|PMID:28178980|PMID:28454995|PMID:28492532|PMID:29458409|PMID:30799093|PMID:31852434|PMID:32619254|PMID:33095980 11718457 TWNK twinkle mtDNA helicase gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:1317337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:25741868|PMID:28492532 11718457 TWNK twinkle mtDNA helicase gene DOID:0080126 mitochondrial DNA depletion syndrome 7 ISO RGD:1317337 D RGD:7240710 20180130 OMIM 11718457 TWNK twinkle mtDNA helicase gene DOID:0080126 mitochondrial DNA depletion syndrome 7 ISO RGD:1317337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia | ClinVar Annotator: match by term: mitochondrial hepatopathy PMID:11431692|PMID:12707443|PMID:12872260|PMID:16135556|PMID:17614277|PMID:17722119|PMID:17921179|PMID:18575922|PMID:18973250|PMID:19084593|PMID:20479361|PMID:20659899|PMID:21689831|PMID:22353293|PMID:22928142|PMID:24018892|PMID:24086434|PMID:25355836|PMID:25741868|PMID:26206283|PMID:26467025|PMID:26970254|PMID:27551684|PMID:27650058|PMID:28178980|PMID:28454995|PMID:28492532|PMID:28776642|PMID:28812649|PMID:29458409|PMID:30496414|PMID:30799093|PMID:31055809|PMID:31852434|PMID:32619254|PMID:33095980 11718457 TWNK twinkle mtDNA helicase gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:1317337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia Neuropathy Spectrum Disorders | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:15668446|PMID:17614277|PMID:20479361|PMID:20659899|PMID:21689831|PMID:24018892|PMID:25355836|PMID:25741868|PMID:26206283|PMID:26467025|PMID:27551684|PMID:28492532|PMID:29458409 11718457 TWNK twinkle mtDNA helicase gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:1317337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia Neuropathy Spectrum Disorders | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:15668446|PMID:17614277|PMID:20301746|PMID:20479361|PMID:20659899|PMID:21689831|PMID:24018892|PMID:25355836|PMID:25741868|PMID:26206283|PMID:26467025|PMID:26970254|PMID:27551684|PMID:28178980|PMID:28454995|PMID:28492532|PMID:29458409|PMID:30799093|PMID:31852434|PMID:32619254|PMID:33095980 11718457 TWNK twinkle mtDNA helicase gene DOID:0111520 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 ISO RGD:1317337 D RGD:7240710 20180130 OMIM 11718457 TWNK twinkle mtDNA helicase gene DOID:0111520 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 ISO RGD:1317337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 PMID:10522883|PMID:11431692|PMID:12163192|PMID:12707443|PMID:12872260|PMID:15668446|PMID:1634620|PMID:17614277|PMID:18575922|PMID:18973250|PMID:19084593|PMID:19353676|PMID:19428252|PMID:19513767|PMID:20301746|PMID:20479361|PMID:20659899|PMID:21689831|PMID:24014582|PMID:24018892|PMID:24076137|PMID:24086434|PMID:25133958|PMID:25355836|PMID:25741868|PMID:25989649|PMID:26206283|PMID:26467025|PMID:26970254|PMID:27551684|PMID:28178980|PMID:28454995|PMID:28492532|PMID:28812649|PMID:29458409|PMID:30496414|PMID:30799093|PMID:31271879|PMID:31852434|PMID:32619254|PMID:33095980|PMID:34409151 11718457 TWNK twinkle mtDNA helicase gene DOID:0111521 autosomal dominant progressive external ophthalmoplegia 1 ISO RGD:1317337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 PMID:11431692|PMID:18575922|PMID:18971204|PMID:20659899|PMID:25741868|PMID:28492532 11718457 TWNK twinkle mtDNA helicase gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:1317337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions PMID:11431692|PMID:16639411|PMID:17272269|PMID:17620490|PMID:18279890|PMID:18971204|PMID:19513767|PMID:20479361|PMID:20659899|PMID:20880070|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28812649|PMID:32161153 11718457 TWNK twinkle mtDNA helicase gene DOID:12558 chronic progressive external ophthalmoplegia susceptibility ISO RGD:1317337 D RGD:9068941 20200609 RGD DNA:mutations PMID:11431692|REF_RGD_ID:1600544 11718457 TWNK twinkle mtDNA helicase gene DOID:14330 Parkinson's disease ISO RGD:1317338 D RGD:9068941 20220825 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 11718457 TWNK twinkle mtDNA helicase gene DOID:2476 hereditary spastic paraplegia ISO RGD:1317337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:21689831|PMID:25741868|PMID:26467025|PMID:28492532 11718457 TWNK twinkle mtDNA helicase gene DOID:700 mitochondrial metabolism disease ISO RGD:1317337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:11431692|PMID:12707443|PMID:12872260|PMID:16639411|PMID:17272269|PMID:17620490|PMID:18279890|PMID:18575922|PMID:18971204|PMID:18973250|PMID:19084593|PMID:19513767|PMID:20479361|PMID:20659899|PMID:20880070|PMID:24076137|PMID:24086434|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28812649|PMID:30496414|PMID:32161153 11718457 TWNK twinkle mtDNA helicase gene DOID:9000124 Perrault Syndrome 5 ISO RGD:1317337 D RGD:7240710 20180130 OMIM 11718457 TWNK twinkle mtDNA helicase gene DOID:9000124 Perrault Syndrome 5 ISO RGD:1317337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perrault syndrome 5 PMID:25355836|PMID:25741868|PMID:28492532|PMID:29302074|PMID:31823625|PMID:32281099|PMID:32619254|PMID:33095980 11718457 TWNK twinkle mtDNA helicase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1307884 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:retina,mitochondrion: PMID:22743328|REF_RGD_ID:8694093 11718457 TWNK twinkle mtDNA helicase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1317338 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:retina,mitochondrion: PMID:22229649|REF_RGD_ID:8694187 11718457 TWNK twinkle mtDNA helicase gene DOID:9005815 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive ISO RGD:1317337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic PMID:12707443|PMID:12872260|PMID:18575922|PMID:18973250|PMID:19084593|PMID:20659899|PMID:24086434|PMID:25741868|PMID:28492532|PMID:28812649|PMID:30496414 11718482 KIF3B kinesin family member 3B gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1315643 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency PMID:28492532 11718482 KIF3B kinesin family member 3B gene DOID:0112146 retinitis pigmentosa 89 ISO RGD:1315643 D RGD:7240710 20230420 OMIM 11718482 KIF3B kinesin family member 3B gene DOID:0112146 retinitis pigmentosa 89 ISO RGD:1315643 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 89 PMID:32386558 11718482 KIF3B kinesin family member 3B gene DOID:14228 oligospermia ISO RGD:1315643 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Oligospermia 11718482 KIF3B kinesin family member 3B gene DOID:5419 schizophrenia ISO RGD:1315644 D RGD:9068941 20230427 MouseDO OMIM:181500 11718482 KIF3B kinesin family member 3B gene DOID:630 genetic disease ISO RGD:1315643 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718482 KIF3B kinesin family member 3B gene DOID:9000039 Spinal Cord Injuries ISO RGD:1306815 D RGD:9068941 20230427 RGD protein:increased expression:spinal cord PMID:23093447|REF_RGD_ID:11049594 11718494 CIBAR2 CBY1 interacting BAR domain containing 2 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1603858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 11718494 CIBAR2 CBY1 interacting BAR domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1603858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11718494 CIBAR2 CBY1 interacting BAR domain containing 2 gene DOID:630 genetic disease ISO RGD:1603858 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718494 CIBAR2 CBY1 interacting BAR domain containing 2 gene DOID:8778 Crohn's disease ISO RGD:1603858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17435756 11718507 POP4 POP4 homolog, ribonuclease P/MRP subunit gene DOID:630 genetic disease ISO RGD:1314291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718507 POP4 POP4 homolog, ribonuclease P/MRP subunit gene DOID:9002762 Ovarian Neoplasms ISO RGD:1314291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21397856 11718564 ZNF280A zinc finger protein 280A gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1342488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 11718564 ZNF280A zinc finger protein 280A gene DOID:11198 DiGeorge syndrome ISO RGD:1342488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 11718564 ZNF280A zinc finger protein 280A gene DOID:630 genetic disease ISO RGD:1342488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718565 LOC100976160 SAP domain-containing ribonucleoprotein gene DOID:630 genetic disease ISO RGD:1603945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718583 INSYN2A inhibitory synaptic factor 2A gene DOID:0060390 distal 10q deletion syndrome ISO RGD:2290515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11718583 INSYN2A inhibitory synaptic factor 2A gene DOID:630 genetic disease ISO RGD:2290515 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718598 RNASEL ribonuclease L gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1346643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 11718598 RNASEL ribonuclease L gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:15670795|REF_RGD_ID:40902819 11718598 RNASEL ribonuclease L gene DOID:10283 prostate cancer ISO RGD:1346643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer, susceptibility to PMID:11799394|PMID:12415269|PMID:16609730|PMID:28492532 11718598 RNASEL ribonuclease L gene DOID:1540 parathyroid carcinoma ISO RGD:1346643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11718598 RNASEL ribonuclease L gene DOID:1612 breast cancer no_association ISO RGD:1346643 D RGD:9068941 20200609 RGD DNA:substitution:G1385A PMID:15330212|REF_RGD_ID:2291997 11718598 RNASEL ribonuclease L gene DOID:2043 hepatitis B ISO RGD:1553469 D RGD:9068941 20201218 RGD PMID:11861827|REF_RGD_ID:40902828 11718598 RNASEL ribonuclease L gene DOID:234 colon adenocarcinoma severity ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:23567782|REF_RGD_ID:40902808 11718598 RNASEL ribonuclease L gene DOID:2365 West Nile encephalitis disease_progression ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:16809306|REF_RGD_ID:40902815 11718598 RNASEL ribonuclease L gene DOID:2394 ovarian cancer ISO RGD:1346643 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 11718598 RNASEL ribonuclease L gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:23913960|REF_RGD_ID:40902622 11718598 RNASEL ribonuclease L gene DOID:3298 vaccinia severity ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:11967338|REF_RGD_ID:40902818 11718598 RNASEL ribonuclease L gene DOID:3298 vaccinia susceptibility ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:20943971|REF_RGD_ID:40902816 11718598 RNASEL ribonuclease L gene DOID:3883 Lynch syndrome onset ISO RGD:1346643 D RGD:9068941 20200609 RGD DNA:substitution:cds:amino acid R462G PMID:16054567|REF_RGD_ID:2292000 11718598 RNASEL ribonuclease L gene DOID:630 genetic disease ISO RGD:1346643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718598 RNASEL ribonuclease L gene DOID:7427 anthrax disease severity ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:19075243|REF_RGD_ID:40902812 11718598 RNASEL ribonuclease L gene DOID:8469 influenza ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:23913960|REF_RGD_ID:40902622 11718598 RNASEL ribonuclease L gene DOID:8704 genital herpes severity ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:17157346|REF_RGD_ID:40902623 11718598 RNASEL ribonuclease L gene DOID:9000099 Experimental Colitis severity ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:23567782|REF_RGD_ID:40902808 11718598 RNASEL ribonuclease L gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11718598 RNASEL ribonuclease L gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16114055|PMID:17020975|PMID:27318894 11718598 RNASEL ribonuclease L gene DOID:9002953 Escherichia Coli Infections severity ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:19075243|REF_RGD_ID:40902812 11718598 RNASEL ribonuclease L gene DOID:9004531 Cardiovirus Infections ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:21636578|REF_RGD_ID:40902809 11718598 RNASEL ribonuclease L gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:1346643 D RGD:7240710 20190213 OMIM 11718598 RNASEL ribonuclease L gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:1346643 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1 PMID:11799394|PMID:12415269|PMID:16609730|PMID:25741868|PMID:28492532 11718598 RNASEL ribonuclease L gene DOID:9005539 Familial Prostate Cancer ISO RGD:1346643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11718598 RNASEL ribonuclease L gene DOID:9006623 Murine Acquired Immunodeficiency Syndrome ISO RGD:1553469 D RGD:9068941 20201211 RGD associated with Arterivirus Infections PMID:23725696|REF_RGD_ID:40902617 11718598 RNASEL ribonuclease L gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1346643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11718598 RNASEL ribonuclease L gene DOID:9007899 Animal Viral Hepatitis ISO RGD:1553469 D RGD:9068941 20201211 RGD associated with Middle East respiratory syndrome PMID:27025250|REF_RGD_ID:40902807 11718598 RNASEL ribonuclease L gene DOID:9007899 Animal Viral Hepatitis disease_progression ISO RGD:1553469 D RGD:9068941 20201211 RGD associated with Coronaviridae Infections PMID:28003490|REF_RGD_ID:40902624 11718598 RNASEL ribonuclease L gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11718609 FBXO22 F-box protein 22 gene DOID:2717 Bloom syndrome ISO RGD:1315406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11718609 FBXO22 F-box protein 22 gene DOID:5419 schizophrenia ISO RGD:1315406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11718609 FBXO22 F-box protein 22 gene DOID:630 genetic disease ISO RGD:1315406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718609 FBXO22 F-box protein 22 gene DOID:9256 colorectal cancer ISO RGD:1315406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11718628 LOC100978249 beta-crystallin B2 gene DOID:0110260 cataract 7 ISO RGD:734352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9158139 11718628 LOC100978249 beta-crystallin B2 gene DOID:0110269 cataract 3 multiple types ISO RGD:734352 D RGD:7240710 20180130 OMIM 11718628 LOC100978249 beta-crystallin B2 gene DOID:0110269 cataract 3 multiple types ISO RGD:734352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CATARACT 3, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 3 multiple types PMID:10634616|PMID:11424921|PMID:15889016|PMID:16199547|PMID:16319073|PMID:17234267|PMID:17653036|PMID:19649175|PMID:22312185|PMID:2240043|PMID:24120835|PMID:24704203|PMID:25741868|PMID:26694549|PMID:27385965|PMID:28492532|PMID:29386872|PMID:29395391|PMID:30450742|PMID:33594837|PMID:8812489|PMID:9158139 11718628 LOC100978249 beta-crystallin B2 gene DOID:13141 uveitis ISO RGD:734352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578012|PMID:21850155 11718628 LOC100978249 beta-crystallin B2 gene DOID:417 autoimmune disease ISO RGD:734352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21850155 11718628 LOC100978249 beta-crystallin B2 gene DOID:630 genetic disease ISO RGD:734352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22312185|PMID:23389822|PMID:24120835|PMID:24704203 11718628 LOC100978249 beta-crystallin B2 gene DOID:83 cataract ISO RGD:734352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:10634616|PMID:11424921|PMID:15889016|PMID:17234267|PMID:2240043|PMID:25741868|PMID:26694549|PMID:27385965|PMID:28492532|PMID:29395391|PMID:8812489|PMID:9158139 11718628 LOC100978249 beta-crystallin B2 gene DOID:83 cataract susceptibility ISO RGD:734352 D RGD:9068941 20200609 RGD congenital cerulean cataract type 2, OMIM:601547;DNA:nonsense mutation PMID:9158139|REF_RGD_ID:1601011 11718628 LOC100978249 beta-crystallin B2 gene DOID:9004255 Cataract, Sutural, with Punctate and Cerulean Opacities ISO RGD:734352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract, sutural, with punctate and cerulean opacities PMID:10634616|PMID:11424921|PMID:15889016|PMID:17234267|PMID:2240043|PMID:25741868|PMID:27385965|PMID:28492532|PMID:29395391|PMID:8812489|PMID:9158139 11718642 KDM5A lysine demethylase 5A gene DOID:10283 prostate cancer ISO RGD:1313452 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland (human) PMID:24200674|REF_RGD_ID:9587761 11718642 KDM5A lysine demethylase 5A gene DOID:1059 intellectual disability ISO RGD:1313452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11718642 KDM5A lysine demethylase 5A gene DOID:11383 cryptorchidism ISO RGD:1305429 D RGD:9068941 20200609 RGD mRNA:increased expression:testes (rat) PMID:24679876|REF_RGD_ID:9588526 11718642 KDM5A lysine demethylase 5A gene DOID:1612 breast cancer severity ISO RGD:1313452 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast (human) PMID:23266085|REF_RGD_ID:9586731 11718642 KDM5A lysine demethylase 5A gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1313452 D RGD:9068941 20200609 RGD protein:increased expression:lung (human) PMID:25162518|REF_RGD_ID:9588530 11718642 KDM5A lysine demethylase 5A gene DOID:5517 stomach carcinoma ISO RGD:1313452 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach (human) PMID:23794145|REF_RGD_ID:9588529 11718642 KDM5A lysine demethylase 5A gene DOID:630 genetic disease ISO RGD:1313452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718642 KDM5A lysine demethylase 5A gene DOID:7147 ankylosing spondylitis susceptibility ISO RGD:1313452 D RGD:9068941 20200609 RGD DNA:snps:intron:IVST>A, IVS-1467C>T, IVS+828T>C (rs7134353, rs2284336, rs11062357) (human) PMID:24069348|REF_RGD_ID:9588532 11718642 KDM5A lysine demethylase 5A gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1313452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11718642 KDM5A lysine demethylase 5A gene DOID:986 alopecia areata ISO RGD:1313452 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:21936853|REF_RGD_ID:9587460 11718674 SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 gene DOID:0112372 Coffin-Siris syndrome 11 ISO RGD:1313419 D RGD:7240710 20200226 OMIM 11718674 SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 gene DOID:0112372 Coffin-Siris syndrome 11 ISO RGD:1313419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 11 PMID:25741868|PMID:30879640 11718674 SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 gene DOID:1168 familial hyperlipidemia ISO RGD:1305406 D RGD:9068941 20200609 RGD mRNA:decreased expression:thoracic aorta PMID:24615205|REF_RGD_ID:9586357 11718674 SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 gene DOID:630 genetic disease ISO RGD:1313419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11718674 SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1313419 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11718674 SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 gene DOID:987 alopecia ISO RGD:1313419 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Alopecia, androgenetic, 1 11718695 CCDC124 coiled-coil domain containing 124 gene DOID:630 genetic disease ISO RGD:1605304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718695 CCDC124 coiled-coil domain containing 124 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1605304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11718709 MYL7 myosin light chain 7 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9527842 11718709 MYL7 myosin light chain 7 gene DOID:14250 Down syndrome ISO RGD:1317935 D RGD:9068941 20200609 RGD PMID:12083776|REF_RGD_ID:1580934 11718709 MYL7 myosin light chain 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11718709 MYL7 myosin light chain 7 gene DOID:630 genetic disease ISO RGD:1317934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718726 GPAM glycerol-3-phosphate acyltransferase, mitochondrial gene DOID:1184 nephrotic syndrome ISO RGD:61847 D RGD:9068941 20200609 RGD PMID:18614621|REF_RGD_ID:2313652 11718726 GPAM glycerol-3-phosphate acyltransferase, mitochondrial gene DOID:1909 melanoma ISO RGD:1345985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11718726 GPAM glycerol-3-phosphate acyltransferase, mitochondrial gene DOID:630 genetic disease ISO RGD:1345985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718726 GPAM glycerol-3-phosphate acyltransferase, mitochondrial gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11718726 GPAM glycerol-3-phosphate acyltransferase, mitochondrial gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1345985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9452481 11718726 GPAM glycerol-3-phosphate acyltransferase, mitochondrial gene DOID:9970 obesity ISO RGD:61847 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreatic islet PMID:9032096|REF_RGD_ID:2313659 11718771 MAP3K4 mitogen-activated protein kinase kinase kinase 4 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1322520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 11718771 MAP3K4 mitogen-activated protein kinase kinase kinase 4 gene DOID:2154 nephroblastoma ISO RGD:1322520 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 11718771 MAP3K4 mitogen-activated protein kinase kinase kinase 4 gene DOID:630 genetic disease ISO RGD:1322520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718771 MAP3K4 mitogen-activated protein kinase kinase kinase 4 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1322520 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 11718808 C11H11orf86 chromosome 11 C11orf86 homolog gene DOID:1059 intellectual disability ISO RGD:2298933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11718808 C11H11orf86 chromosome 11 C11orf86 homolog gene DOID:630 genetic disease ISO RGD:2298933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718808 C11H11orf86 chromosome 11 C11orf86 homolog gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:2298933 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11718808 C11H11orf86 chromosome 11 C11orf86 homolog gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:2298933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11718818 CDK16 cyclin dependent kinase 16 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:734014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11718818 CDK16 cyclin dependent kinase 16 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:734014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 11718818 CDK16 cyclin dependent kinase 16 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:734014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11718818 CDK16 cyclin dependent kinase 16 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:734014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11718818 CDK16 cyclin dependent kinase 16 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:734014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 11718818 CDK16 cyclin dependent kinase 16 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:734014 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 11718818 CDK16 cyclin dependent kinase 16 gene DOID:1059 intellectual disability ISO RGD:734014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11718818 CDK16 cyclin dependent kinase 16 gene DOID:12849 autistic disorder ISO RGD:734014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11718818 CDK16 cyclin dependent kinase 16 gene DOID:630 genetic disease ISO RGD:734014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718818 CDK16 cyclin dependent kinase 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11718854 SENP8 SUMO peptidase family member, NEDD8 specific gene DOID:2717 Bloom syndrome ISO RGD:1320576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11718854 SENP8 SUMO peptidase family member, NEDD8 specific gene DOID:3320 Tay-Sachs disease ISO RGD:1320576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 11718854 SENP8 SUMO peptidase family member, NEDD8 specific gene DOID:630 genetic disease ISO RGD:1320576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718854 SENP8 SUMO peptidase family member, NEDD8 specific gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 11718854 SENP8 SUMO peptidase family member, NEDD8 specific gene DOID:9256 colorectal cancer ISO RGD:1320576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11718870 S100A14 S100 calcium binding protein A14 gene DOID:0111940 immunodeficiency 42 ISO RGD:1344968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11718870 S100A14 S100 calcium binding protein A14 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11718870 S100A14 S100 calcium binding protein A14 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11718870 S100A14 S100 calcium binding protein A14 gene DOID:1540 parathyroid carcinoma ISO RGD:1344968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11718870 S100A14 S100 calcium binding protein A14 gene DOID:5812 MHC class II deficiency ISO RGD:1344968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11718870 S100A14 S100 calcium binding protein A14 gene DOID:630 genetic disease ISO RGD:1344968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718870 S100A14 S100 calcium binding protein A14 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11718882 PEX11G peroxisomal biogenesis factor 11 gamma gene DOID:0080490 mucolipidosis type IV ISO RGD:1316043 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11718882 PEX11G peroxisomal biogenesis factor 11 gamma gene DOID:0110790 hereditary spastic paraplegia 39 ISO RGD:1316043 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 PMID:28492532 11718882 PEX11G peroxisomal biogenesis factor 11 gamma gene DOID:630 genetic disease ISO RGD:1316043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718897 DUS1L dihydrouridine synthase 1 like gene DOID:630 genetic disease ISO RGD:1605962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718897 DUS1L dihydrouridine synthase 1 like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11718920 PRSS36 serine protease 36 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1604524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11718920 PRSS36 serine protease 36 gene DOID:630 genetic disease ISO RGD:1604524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718952 OTUD4 OTU deubiquitinase 4 gene DOID:13938 amenorrhea ISO RGD:1603307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 11718952 OTUD4 OTU deubiquitinase 4 gene DOID:630 genetic disease ISO RGD:1603307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11718984 POP1 POP1 homolog, ribonuclease P/MRP subunit gene DOID:0050640 anauxetic dysplasia 1 ISO RGD:1318482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11718984 POP1 POP1 homolog, ribonuclease P/MRP subunit gene DOID:0080962 anauxetic dysplasia 2 ISO RGD:1318482 D RGD:7240710 20190315 OMIM 11718984 POP1 POP1 homolog, ribonuclease P/MRP subunit gene DOID:0080962 anauxetic dysplasia 2 ISO RGD:1318482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia 2 PMID:21455487|PMID:25741868|PMID:27380734|PMID:28067412|PMID:28492532|PMID:30408610 11718984 POP1 POP1 homolog, ribonuclease P/MRP subunit gene DOID:0111590 Cohen syndrome ISO RGD:1318482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 11718984 POP1 POP1 homolog, ribonuclease P/MRP subunit gene DOID:630 genetic disease ISO RGD:1318482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:31235738 11719004 YTHDF2 YTH N6-methyladenosine RNA binding protein F2 gene DOID:630 genetic disease ISO RGD:1322711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719004 YTHDF2 YTH N6-methyladenosine RNA binding protein F2 gene DOID:684 hepatocellular carcinoma ISO RGD:1322711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28104805 11719013 KLHL35 kelch like family member 35 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1603871 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11719013 KLHL35 kelch like family member 35 gene DOID:1059 intellectual disability ISO RGD:1603871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11719013 KLHL35 kelch like family member 35 gene DOID:630 genetic disease ISO RGD:1603871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719023 TRIM54 tripartite motif containing 54 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1354245 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11719023 TRIM54 tripartite motif containing 54 gene DOID:630 genetic disease ISO RGD:1354245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719041 UBAP1L ubiquitin associated protein 1 like gene DOID:0110935 nemaline myopathy 6 ISO RGD:5476950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11719041 UBAP1L ubiquitin associated protein 1 like gene DOID:2717 Bloom syndrome ISO RGD:5476950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11719041 UBAP1L ubiquitin associated protein 1 like gene DOID:630 genetic disease ISO RGD:5476950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719041 UBAP1L ubiquitin associated protein 1 like gene DOID:9256 colorectal cancer ISO RGD:5476950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11719051 AVPR1A arginine vasopressin receptor 1A gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:68986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17218722 11719051 AVPR1A arginine vasopressin receptor 1A gene DOID:0060041 autism spectrum disorder ISO RGD:68986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20546835 11719051 AVPR1A arginine vasopressin receptor 1A gene DOID:10762 portal hypertension ISO RGD:68986 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis;mRNA:increased expression:liver, artery PMID:12641544|REF_RGD_ID:2300334 11719051 AVPR1A arginine vasopressin receptor 1A gene DOID:10763 hypertension ISO RGD:2185 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney, arteriole PMID:15657301|REF_RGD_ID:2300322 11719051 AVPR1A arginine vasopressin receptor 1A gene DOID:10763 hypertension ISO RGD:2185 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:paraventricular hypothalamic nucleus PMID:15475662|REF_RGD_ID:2300330 11719051 AVPR1A arginine vasopressin receptor 1A gene DOID:10763 hypertension ISO RGD:68986 D RGD:9068941 20200609 RGD DNA:SNP PMID:17653244|REF_RGD_ID:2300319 11719051 AVPR1A arginine vasopressin receptor 1A gene DOID:12849 autistic disorder ISO RGD:68986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16520824 11719051 AVPR1A arginine vasopressin receptor 1A gene DOID:1591 renovascular hypertension ISO RGD:2185 D RGD:9068941 20200609 RGD mRNA:altered expression:brain PMID:15613739|REF_RGD_ID:2300323 11719051 AVPR1A arginine vasopressin receptor 1A gene DOID:3021 acute kidney failure ISO RGD:2185 D RGD:9068941 20200609 RGD PMID:17347933|REF_RGD_ID:2300348 11719051 AVPR1A arginine vasopressin receptor 1A gene DOID:4724 brain edema ISO RGD:2185 D RGD:9068941 20200609 RGD associated with Reperfusion Injury PMID:16671476|REF_RGD_ID:2300375 11719051 AVPR1A arginine vasopressin receptor 1A gene DOID:5419 schizophrenia ISO RGD:68987 D RGD:9068941 20220825 MouseDO OMIM:181500 11719051 AVPR1A arginine vasopressin receptor 1A gene DOID:5844 myocardial infarction ISO RGD:2185 D RGD:9068941 20200609 RGD PMID:16423716|REF_RGD_ID:2300376 11719051 AVPR1A arginine vasopressin receptor 1A gene DOID:630 genetic disease ISO RGD:68986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719051 AVPR1A arginine vasopressin receptor 1A gene DOID:9000998 Brain Injuries ISO RGD:2185 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:17244947|REF_RGD_ID:2300372 11719051 AVPR1A arginine vasopressin receptor 1A gene DOID:9003936 Cardiomegaly ISO RGD:2185 D RGD:9068941 20200609 RGD associated with Heart Failure, Congestive PMID:18467593|REF_RGD_ID:2300338 11719051 AVPR1A arginine vasopressin receptor 1A gene DOID:9008217 Hemorrhage ISO RGD:2185 D RGD:9068941 20200609 RGD associated with Hypertension, Portal PMID:14647048|REF_RGD_ID:2300333 11719057 CTXN3 cortexin 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604412 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11719057 CTXN3 cortexin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11719057 CTXN3 cortexin 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604412 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11719100 PDPN podoplanin gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606573 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11719100 PDPN podoplanin gene DOID:11394 adult respiratory distress syndrome ISO RGD:61819 D RGD:9068941 20200609 RGD PMID:11790662|REF_RGD_ID:2292244 11719100 PDPN podoplanin gene DOID:12215 oligohydramnios ISO RGD:61819 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung PMID:11839536|REF_RGD_ID:2292243 11719100 PDPN podoplanin gene DOID:1790 malignant mesothelioma ISO RGD:1606573 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 11719100 PDPN podoplanin gene DOID:2527 nephrosis ISO RGD:61819 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:glomerulus PMID:9327748|REF_RGD_ID:632934 11719100 PDPN podoplanin gene DOID:3068 glioblastoma ISO RGD:1606573 D RGD:9068941 20200609 RGD PMID:16979138|REF_RGD_ID:2292241 11719100 PDPN podoplanin gene DOID:3304 germinoma ISO RGD:1606573 D RGD:9068941 20200609 RGD PMID:16718353|REF_RGD_ID:2292236 11719100 PDPN podoplanin gene DOID:3744 cervical squamous cell carcinoma disease_progression ISO RGD:1606573 D RGD:9068941 20200609 RGD PMID:16528371|REF_RGD_ID:2292237 11719100 PDPN podoplanin gene DOID:4440 seminoma ISO RGD:1606573 D RGD:9068941 20200609 RGD PMID:17951198|REF_RGD_ID:2292234 11719100 PDPN podoplanin gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1606573 D RGD:9068941 20200609 RGD PMID:18291512|REF_RGD_ID:2292239 11719100 PDPN podoplanin gene DOID:630 genetic disease ISO RGD:1606573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719100 PDPN podoplanin gene DOID:8719 in situ carcinoma ISO RGD:1606573 D RGD:9068941 20200609 RGD mRNA:increased expression:testis PMID:16736189|REF_RGD_ID:2292235 11719100 PDPN podoplanin gene DOID:874 bacterial pneumonia ISO RGD:61819 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:7864138|REF_RGD_ID:2292375 11719100 PDPN podoplanin gene DOID:9000081 Lymphatic Metastasis ISO RGD:1606573 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:18165897|REF_RGD_ID:2292231 11719100 PDPN podoplanin gene DOID:9000081 Lymphatic Metastasis ISO RGD:1606573 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms PMID:16528371|REF_RGD_ID:2292237 11719100 PDPN podoplanin gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1606573 D RGD:9068941 20200609 RGD mRNA:increased expression:testis PMID:16736189|REF_RGD_ID:2292235 11719100 PDPN podoplanin gene DOID:9001542 Albuminuria ISO RGD:61819 D RGD:9068941 20200609 RGD PMID:18199599|REF_RGD_ID:2292240 11719100 PDPN podoplanin gene DOID:9001834 Peritoneal Neoplasms ISO RGD:1606573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 11719100 PDPN podoplanin gene DOID:9005372 Inflammation ISO RGD:61819 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:15849211|REF_RGD_ID:2292242 11719100 PDPN podoplanin gene DOID:9007480 Hyperoxia ISO RGD:61819 D RGD:9068941 20200609 RGD protein:increased tyrosine nitration:lung PMID:12922978|REF_RGD_ID:1302251 11719112 CSNK2B casein kinase 2 beta gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1347139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 11719112 CSNK2B casein kinase 2 beta gene DOID:0050553 JMP syndrome ISO RGD:1347139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11719112 CSNK2B casein kinase 2 beta gene DOID:0060041 autism spectrum disorder ISO RGD:1347139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11719112 CSNK2B casein kinase 2 beta gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:1347139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability PMID:25741868 11719112 CSNK2B casein kinase 2 beta gene DOID:11372 megacolon ISO RGD:1347139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11719112 CSNK2B casein kinase 2 beta gene DOID:127 leiomyoma ISO RGD:1347139 D RGD:9068941 20200609 RGD PMID:25327614|REF_RGD_ID:11565842 11719112 CSNK2B casein kinase 2 beta gene DOID:1749 squamous cell carcinoma ISO RGD:1347139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 11719112 CSNK2B casein kinase 2 beta gene DOID:1826 epilepsy ISO RGD:1347139 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:33644862|PMID:34041744 11719112 CSNK2B casein kinase 2 beta gene DOID:5844 myocardial infarction ISO RGD:619978 D RGD:9068941 20200609 RGD PMID:15090263|REF_RGD_ID:11565830 11719112 CSNK2B casein kinase 2 beta gene DOID:630 genetic disease ISO RGD:1347139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33166063|PMID:33644862|PMID:34041744 11719112 CSNK2B casein kinase 2 beta gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:619978 D RGD:9068941 20200609 RGD PMID:11068334|REF_RGD_ID:11565824 11719112 CSNK2B casein kinase 2 beta gene DOID:9002536 POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME ISO RGD:1347139 D RGD:7240710 20200226 OMIM 11719112 CSNK2B casein kinase 2 beta gene DOID:9002536 POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME ISO RGD:1347139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Poirier-Bienvenu neurodevelopmental syndrome PMID:11574463|PMID:25741868|PMID:28492532|PMID:28585349|PMID:28762608|PMID:30655572|PMID:31784560|PMID:33166063|PMID:33644862|PMID:34041744|PMID:35571680 11719112 CSNK2B casein kinase 2 beta gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:1624107 D RGD:9068941 20200609 RGD PMID:16651637|REF_RGD_ID:11565123 11719112 CSNK2B casein kinase 2 beta gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1347139 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 PMID:25741868 11719112 CSNK2B casein kinase 2 beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347139 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11719112 CSNK2B casein kinase 2 beta gene DOID:9004464 Skin Neoplasms ISO RGD:1347139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 11719126 SLC10A2 solute carrier family 10 member 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:736402 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:28492532 11719126 SLC10A2 solute carrier family 10 member 2 gene DOID:14701 propionic acidemia ISO RGD:736402 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 11719126 SLC10A2 solute carrier family 10 member 2 gene DOID:1561 cognitive disorder ISO RGD:736402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 11719126 SLC10A2 solute carrier family 10 member 2 gene DOID:303 substance-related disorder ISO RGD:736402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11719126 SLC10A2 solute carrier family 10 member 2 gene DOID:5295 intestinal disease ISO RGD:736402 D RGD:9068941 20200609 RGD primary bile acid malabsorption; DNA:point mutation:exon:L243P, T262M PMID:9109432|REF_RGD_ID:1624186 11719126 SLC10A2 solute carrier family 10 member 2 gene DOID:630 genetic disease ISO RGD:736402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11719126 SLC10A2 solute carrier family 10 member 2 gene DOID:863 nervous system disease ISO RGD:736402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 11719126 SLC10A2 solute carrier family 10 member 2 gene DOID:9002661 Diabetes Complications ISO RGD:736402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 11719126 SLC10A2 solute carrier family 10 member 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:736402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11719126 SLC10A2 solute carrier family 10 member 2 gene DOID:9003880 Primary Bile Acid Malabsorption ISO RGD:736402 D RGD:9068941 20230511 CTD CTD Direct Evidence: marker/mechanism 11719126 SLC10A2 solute carrier family 10 member 2 gene DOID:9007940 Primary Bile Acid Malabsorption 1 ISO RGD:736402 D RGD:7240710 20210825 OMIM 11719126 SLC10A2 solute carrier family 10 member 2 gene DOID:9007940 Primary Bile Acid Malabsorption 1 ISO RGD:736402 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bile acid malabsorption, primary, 1 PMID:19823678|PMID:25741868|PMID:28492532|PMID:30919572|PMID:34192422 11719126 SLC10A2 solute carrier family 10 member 2 gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:736402 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532 11719136 PARK7 Parkinsonism associated deglycase gene DOID:0060368 Parkinson's disease 2 ISO RGD:1344212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Young-onset Parkinson disease PMID:25741868 11719136 PARK7 Parkinsonism associated deglycase gene DOID:0060369 Parkinson's disease 6 ISO RGD:1344212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 PMID:16632486 11719136 PARK7 Parkinsonism associated deglycase gene DOID:0060370 Parkinson's disease 7 ISO RGD:1344212 D RGD:7240710 20180130 OMIM 11719136 PARK7 Parkinsonism associated deglycase gene DOID:0060370 Parkinson's disease 7 ISO RGD:1344212 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 7 PMID:12446870|PMID:12891675|PMID:12891685|PMID:12953260|PMID:14662519|PMID:14705128|PMID:14872018|PMID:15219840|PMID:15254937|PMID:15365989|PMID:15790532|PMID:15944198|PMID:16997464|PMID:17576681|PMID:18181649|PMID:1818649|PMID:18436956|PMID:18436965|PMID:18973254|PMID:19405094|PMID:19429112|PMID:20639397|PMID:20806408|PMID:20981092|PMID:21532868|PMID:22173095|PMID:22428580|PMID:22492997|PMID:22960331|PMID:22995991|PMID:23183826|PMID:23241025|PMID:23792957|PMID:25741868|PMID:26274610|PMID:26467025|PMID:27085187|PMID:27294386|PMID:27592010|PMID:27884173|PMID:28492532|PMID:28993701|PMID:29599708|PMID:31028127|PMID:32144268|PMID:33795807|PMID:9536098 11719136 PARK7 Parkinsonism associated deglycase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1344212 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11719136 PARK7 Parkinsonism associated deglycase gene DOID:0060892 late onset Parkinson's disease ISO RGD:1344212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset 11719136 PARK7 Parkinsonism associated deglycase gene DOID:0080855 Parkinsonism ISO RGD:1344212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Juvenile 11719136 PARK7 Parkinsonism associated deglycase gene DOID:0080855 Parkinsonism treatment ISO RGD:1344212 D RGD:9068941 20200609 RGD PMID:16860563|REF_RGD_ID:1601076 11719136 PARK7 Parkinsonism associated deglycase gene DOID:0080855 Parkinsonism treatment ISO RGD:621808 D RGD:9068941 20200609 RGD PMID:18373560|PMID:22041943|REF_RGD_ID:13462067|REF_RGD_ID:13463452 11719136 PARK7 Parkinsonism associated deglycase gene DOID:0111101 maturity-onset diabetes of the young type 5 ISO RGD:1344212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal cysts and diabetes syndrome PMID:12891685|PMID:14662519|PMID:14705128|PMID:14872018|PMID:15219840|PMID:15790532|PMID:16997464|PMID:19429112|PMID:22173095|PMID:22428580|PMID:22960331|PMID:22995991|PMID:25741868|PMID:26274610|PMID:26467025|PMID:27294386|PMID:27592010|PMID:28492532 11719136 PARK7 Parkinsonism associated deglycase gene DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 ISO RGD:1344212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Guam disease PMID:25741868 11719136 PARK7 Parkinsonism associated deglycase gene DOID:11476 osteoporosis ISO RGD:1344212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 11719136 PARK7 Parkinsonism associated deglycase gene DOID:14330 Parkinson's disease ISO RGD:1344212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Recessive PMID:12953260|PMID:20981092|PMID:26467025|PMID:27884173|PMID:28492532 11719136 PARK7 Parkinsonism associated deglycase gene DOID:14330 Parkinson's disease onset ISO RGD:1344212 D RGD:9068941 20200609 RGD DNA:missense mutation, deletion: :L166P PMID:12851414|REF_RGD_ID:1601073 11719136 PARK7 Parkinsonism associated deglycase gene DOID:231 motor neuron disease ISO RGD:1344212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Motor neuron disease PMID:25741868 11719136 PARK7 Parkinsonism associated deglycase gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1344212 D RGD:9068941 20200609 RGD PMID:17882163|REF_RGD_ID:13463450 11719136 PARK7 Parkinsonism associated deglycase gene DOID:3526 cerebral infarction ISO RGD:1552781 D RGD:9068941 20200609 RGD PMID:18003894|REF_RGD_ID:13462069 11719136 PARK7 Parkinsonism associated deglycase gene DOID:3526 cerebral infarction treatment ISO RGD:1344212 D RGD:9068941 20200609 RGD PMID:18003894|REF_RGD_ID:13462069 11719136 PARK7 Parkinsonism associated deglycase gene DOID:630 genetic disease ISO RGD:1344212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719136 PARK7 Parkinsonism associated deglycase gene DOID:684 hepatocellular carcinoma ISO RGD:1344212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11719136 PARK7 Parkinsonism associated deglycase gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1344212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 11719136 PARK7 Parkinsonism associated deglycase gene DOID:9000582 Reticulocytosis ISO RGD:1344212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20800516 11719136 PARK7 Parkinsonism associated deglycase gene DOID:9001820 Pulmonary Arterial Hypertension exacerbates ISO RGD:621808 D RGD:9068941 20220128 RGD PMID:29069575|REF_RGD_ID:151347449 11719136 PARK7 Parkinsonism associated deglycase gene DOID:9002955 Nerve Degeneration ISO RGD:1344212 D RGD:9068941 20201106 CTD CTD Direct Evidence: therapeutic PMID:29649621 11719136 PARK7 Parkinsonism associated deglycase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11719136 PARK7 Parkinsonism associated deglycase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11719157 CLECL1P C-type lectin-like domain family 1 gene DOID:630 genetic disease ISO RGD:1602831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719164 TRIM67 tripartite motif containing 67 gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1352641 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 11719164 TRIM67 tripartite motif containing 67 gene DOID:1540 parathyroid carcinoma ISO RGD:1352641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11719164 TRIM67 tripartite motif containing 67 gene DOID:630 genetic disease ISO RGD:1352641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719164 TRIM67 tripartite motif containing 67 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1352641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 11719164 TRIM67 tripartite motif containing 67 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11719182 APLNR apelin receptor gene DOID:1059 intellectual disability ISO RGD:733537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11719182 APLNR apelin receptor gene DOID:630 genetic disease ISO RGD:733537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719182 APLNR apelin receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:733538 D RGD:9068941 20200609 RGD protein:decreased expression:renal artery PMID:17692936|REF_RGD_ID:2313945 11719189 MRPL3 mitochondrial ribosomal protein L3 gene DOID:0111472 combined oxidative phosphorylation deficiency 9 ISO RGD:1314981 D RGD:7240710 20180130 OMIM 11719189 MRPL3 mitochondrial ribosomal protein L3 gene DOID:0111472 combined oxidative phosphorylation deficiency 9 ISO RGD:1314981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 9 PMID:21786366|PMID:25741868|PMID:27815843|PMID:28492532 11719189 MRPL3 mitochondrial ribosomal protein L3 gene DOID:630 genetic disease ISO RGD:1314981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719189 MRPL3 mitochondrial ribosomal protein L3 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1314981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 11719189 MRPL3 mitochondrial ribosomal protein L3 gene DOID:9270 alkaptonuria ISO RGD:1314981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11719189 MRPL3 mitochondrial ribosomal protein L3 gene DOID:936 brain disease ISO RGD:1314981 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 11719212 CCDC88C coiled-coil domain containing 88C gene DOID:0050952 spastic ataxia ISO RGD:1604894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 11719212 CCDC88C coiled-coil domain containing 88C gene DOID:0050986 spinocerebellar ataxia type 40 ISO RGD:1604894 D RGD:7240710 20180130 OMIM 11719212 CCDC88C coiled-coil domain containing 88C gene DOID:0050986 spinocerebellar ataxia type 40 ISO RGD:1604894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 40 PMID:18414213|PMID:25062847|PMID:25741868|PMID:28492532 11719212 CCDC88C coiled-coil domain containing 88C gene DOID:0080054 achondrogenesis type IA ISO RGD:1604894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11719212 CCDC88C coiled-coil domain containing 88C gene DOID:10908 hydrocephalus ISO RGD:1604894 D RGD:7240710 20180130 OMIM 11719212 CCDC88C coiled-coil domain containing 88C gene DOID:10908 hydrocephalus ISO RGD:1604894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrocephalus | ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 1 PMID:18414213|PMID:21031079|PMID:23042809|PMID:25062847|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29225145 11719212 CCDC88C coiled-coil domain containing 88C gene DOID:630 genetic disease ISO RGD:1604894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:21031079|PMID:25062847|PMID:25741868|PMID:26467025|PMID:27652284|PMID:28492532 11719212 CCDC88C coiled-coil domain containing 88C gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1604894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11719249 IQGAP2 IQ motif containing GTPase activating protein 2 gene DOID:630 genetic disease ISO RGD:1350713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719249 IQGAP2 IQ motif containing GTPase activating protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1350713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20977743 11719249 IQGAP2 IQ motif containing GTPase activating protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1621864 D RGD:9068941 20220825 MouseDO OMIM:114550 11719249 IQGAP2 IQ motif containing GTPase activating protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11719249 IQGAP2 IQ motif containing GTPase activating protein 2 gene DOID:9007502 Brain Neoplasms ISO RGD:1350713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 11719275 DAW1 dynein assembly factor with WD repeats 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1615857 D RGD:9068941 20220825 MouseDO 11719275 DAW1 dynein assembly factor with WD repeats 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1615857 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 11719275 DAW1 dynein assembly factor with WD repeats 1 gene DOID:630 genetic disease ISO RGD:1602062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719275 DAW1 dynein assembly factor with WD repeats 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1602062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 11719292 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:0050753 cerebellar ataxia ISO RGD:1346872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia 11719292 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:0050777 Joubert syndrome ISO RGD:1346872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11719292 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1346872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11719292 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1346872 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11719292 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1346872 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11719292 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1346872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11719292 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:0080061 autosomal recessive spinocerebellar ataxia 2 ISO RGD:1346872 D RGD:7240710 20180130 OMIM 11719292 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:0080061 autosomal recessive spinocerebellar ataxia 2 ISO RGD:1346872 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 2 PMID:10528257|PMID:25741868|PMID:25808372|PMID:26657514|PMID:28492532 11719292 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1346872 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11719292 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1346872 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11719292 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:0081097 Rafiq syndrome ISO RGD:1346872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11719292 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1346872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 11719292 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:1572 normal pressure hydrocephalus ISO RGD:1346872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Normal pressure hydrocephalus PMID:10528257|PMID:25808372 11719292 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:3652 Leigh disease ISO RGD:1346872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11719292 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:630 genetic disease ISO RGD:1346872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25808372|PMID:26657514|PMID:27148589 11719292 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:9005249 Immunodeficiency 103 ISO RGD:1346872 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS PMID:28492532 11719292 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1346872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:0050700 cardiomyopathy ISO RGD:61312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:heart myocardium, serum PMID:17982970|REF_RGD_ID:2290406 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:0060074 ductal carcinoma in situ ISO RGD:733906 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:14744773|REF_RGD_ID:2290436 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:10283 prostate cancer ISO RGD:733906 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, prostate gland PMID:17325663|REF_RGD_ID:2290397 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:733906 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18329693|REF_RGD_ID:2290389 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:10652 Alzheimer's disease ISO RGD:733906 D RGD:9068941 20200609 RGD PMID:12614934|REF_RGD_ID:1580169 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:10762 portal hypertension ISO RGD:61312 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis, Experimental PMID:17351970|REF_RGD_ID:2290408 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:10941 intracranial aneurysm ISO RGD:61312 D RGD:9068941 20200609 RGD mRNA:increased expression:blood vessel PMID:17569872|REF_RGD_ID:2290352 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:11054 urinary bladder cancer ISO RGD:733906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30548095 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:11054 urinary bladder cancer ISO RGD:733906 D RGD:9068941 20200609 RGD PMID:17466450|REF_RGD_ID:2290395 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:733906 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17374529|REF_RGD_ID:2298521 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:733906 D RGD:9068941 20200609 RGD PMID:15616792|REF_RGD_ID:1580161 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:733906 D RGD:9068941 20200609 RGD PMID:15056834|REF_RGD_ID:1580653 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:12858 Huntington's disease ISO RGD:733906 D RGD:9068941 20200609 RGD PMID:12614934|REF_RGD_ID:1580169 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:13099 Moyamoya disease ISO RGD:733906 D RGD:9068941 20200609 RGD PMID:16723886|REF_RGD_ID:1580650 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:13619 extrahepatic cholestasis ISO RGD:733906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733906 D RGD:9068941 20200609 RGD protein:decreased expression:aorta (human) PMID:16820601|REF_RGD_ID:1582351 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:14323 Marfan syndrome ISO RGD:733906 D RGD:9068941 20200609 RGD associated with thoracic aortic aneurysm;protein:increased expression:aorta (human) PMID:16820601|REF_RGD_ID:1582351 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:1532 pleural disease ISO RGD:733906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24142982 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:182 calcinosis ISO RGD:733906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24142982 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:2006 preretinal fibrosis ISO RGD:733906 D RGD:9068941 20200609 RGD PMID:11004090|REF_RGD_ID:2312481 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:2671 transitional cell carcinoma ISO RGD:733906 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16901349|REF_RGD_ID:2290349 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:733906 D RGD:9068941 20200609 RGD mRNA:decreased expression:endometrium PMID:17009991|REF_RGD_ID:2290360 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:3744 cervical squamous cell carcinoma ISO RGD:733906 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix PMID:16619570|REF_RGD_ID:2290402 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:4450 renal cell carcinoma ISO RGD:733906 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:18035688|REF_RGD_ID:2290358 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:733906 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17572184|REF_RGD_ID:2290359 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:5844 myocardial infarction ISO RGD:733906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24358288 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:6000 congestive heart failure ISO RGD:61312 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle PMID:10773234|REF_RGD_ID:2290467 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:630 genetic disease ISO RGD:733906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733906 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:17505812|REF_RGD_ID:2290394 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:9000998 Brain Injuries ISO RGD:61312 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, neuron, microglial cell PMID:10719361|REF_RGD_ID:2290468 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:61312 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:17491697|REF_RGD_ID:2290407 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:9002498 Wallerian Degeneration ISO RGD:61312 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:dorsal root ganglion PMID:16683235|REF_RGD_ID:1600154 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:733906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:9004610 Acute Lung Injury severity ISO RGD:61312 D RGD:9068941 20200609 RGD PMID:10092827|REF_RGD_ID:9999422 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:9005463 Occupational Diseases ISO RGD:733906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24142982 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21963884 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:733906 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:17642161|REF_RGD_ID:2290392 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:733906 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17240786|REF_RGD_ID:2290398 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:9212 pityriasis rubra pilaris ISO RGD:733906 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 11719315 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:733906 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17020653|REF_RGD_ID:2312468 11719324 HES2 hes family bHLH transcription factor 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:736308 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11719324 HES2 hes family bHLH transcription factor 2 gene DOID:630 genetic disease ISO RGD:736308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719324 HES2 hes family bHLH transcription factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11719341 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:620512 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:24782632|REF_RGD_ID:14694831 11719341 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:0080600 COVID-19 ISO RGD:733877 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11719341 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:0111277 mitochondrial trifunctional protein deficiency ISO RGD:733877 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency PMID:10234607|PMID:10352164|PMID:10518281|PMID:11243734|PMID:11773547|PMID:11855930|PMID:12237653|PMID:12442268|PMID:12809642|PMID:12971428|PMID:14630990|PMID:14694500|PMID:15902556|PMID:16040264|PMID:16199547|PMID:17143551|PMID:17576681|PMID:18408953|PMID:19433283|PMID:19852779|PMID:2019931|PMID:20583174|PMID:20659813|PMID:20814823|PMID:21103935|PMID:21549624|PMID:22065858|PMID:22459206|PMID:23430857|PMID:23798014|PMID:23868323|PMID:24033266|PMID:25087612|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25888220|PMID:26024122|PMID:26109258|PMID:26653362|PMID:26676313|PMID:27014569|PMID:27117294|PMID:27334895|PMID:27491397|PMID:28245050|PMID:28492532|PMID:28515471|PMID:28559085|PMID:28798025|PMID:29095929|PMID:29124685|PMID:29268767|PMID:29519241|PMID:30029694|PMID:30626930|PMID:30682426|PMID:31589614|PMID:31980526|PMID:32778825|PMID:32860008|PMID:34878152|PMID:7738175|PMID:7811722|PMID:7846063|PMID:8739956|PMID:8770876|PMID:8865274|PMID:9003853|PMID:9266371|PMID:9536098|PMID:9739053 11719341 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:733877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11719341 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:10652 Alzheimer's disease ISO RGD:733877 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:25260493|REF_RGD_ID:10047114 11719341 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:630 genetic disease ISO RGD:733877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10352164|PMID:10518281|PMID:11773547|PMID:14630990|PMID:15902556|PMID:18408953|PMID:19852779|PMID:20583174|PMID:20814823|PMID:21103935|PMID:21549624|PMID:23430857|PMID:23868323|PMID:24033266|PMID:25087612|PMID:25741868|PMID:25888220|PMID:26024122|PMID:26109258|PMID:26653362|PMID:26676313|PMID:27117294|PMID:27334895|PMID:27491397|PMID:28245050|PMID:28492532|PMID:28559085|PMID:28798025|PMID:29095929|PMID:30029694|PMID:30682426|PMID:7811722|PMID:7846063|PMID:8739956|PMID:8770876|PMID:9003853|PMID:9266371 11719341 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:8398 osteoarthritis ISO RGD:733877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11719341 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9002231 Fetal Growth Retardation ISO RGD:620512 D RGD:9068941 20200609 RGD mRNA:decreased expression PMID:11124150|REF_RGD_ID:1599884 11719341 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9002882 Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:733877 D RGD:7240710 20180130 OMIM 11719341 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9002882 Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:733877 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:10234607|PMID:10352164|PMID:10518281|PMID:11243734|PMID:11773547|PMID:11855930|PMID:12237653|PMID:12442268|PMID:12809642|PMID:12971428|PMID:14630990|PMID:14694500|PMID:15902556|PMID:16040264|PMID:16199547|PMID:17576681|PMID:18408953|PMID:19433283|PMID:19852779|PMID:2019931|PMID:20583174|PMID:20814823|PMID:21103935|PMID:21549624|PMID:22030098|PMID:22065858|PMID:22459206|PMID:23430857|PMID:23798014|PMID:23868323|PMID:24033266|PMID:25087612|PMID:25525159|PMID:25741868|PMID:25888220|PMID:26024122|PMID:26109258|PMID:26653362|PMID:26676313|PMID:27117294|PMID:27334895|PMID:27491397|PMID:28245050|PMID:28492532|PMID:28559085|PMID:28798025|PMID:29095929|PMID:29124685|PMID:29268767|PMID:29519241|PMID:30029694|PMID:30626930|PMID:30682426|PMID:30934865|PMID:31589614|PMID:31980526|PMID:32778825|PMID:33638202|PMID:34878152|PMID:35433174|PMID:7738175|PMID:7811722|PMID:7846063|PMID:8739956|PMID:8770876|PMID:8865274|PMID:9003853|PMID:9266371|PMID:9536098|PMID:9739053 11719341 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1552757 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:25260493|REF_RGD_ID:10047114 11719341 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9007102 Myocardial Ischemia ISO RGD:733877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11719341 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11719341 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9008729 Mitochondrial Trifunctional Protein Deficiency 1 ISO RGD:733877 D RGD:7240710 20230505 OMIM 11719341 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9008729 Mitochondrial Trifunctional Protein Deficiency 1 ISO RGD:733877 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Trifunctional protein deficiency type 1 PMID:10352164|PMID:10518281|PMID:11773547|PMID:12237653|PMID:12809642|PMID:14630990|PMID:15902556|PMID:16040264|PMID:18408953|PMID:19852779|PMID:20583174|PMID:20814823|PMID:21103935|PMID:21549624|PMID:22459206|PMID:23430857|PMID:23868323|PMID:24033266|PMID:25087612|PMID:25741868|PMID:25888220|PMID:26024122|PMID:26109258|PMID:26653362|PMID:26676313|PMID:27117294|PMID:27334895|PMID:27491397|PMID:28245050|PMID:28492532|PMID:28559085|PMID:28798025|PMID:29095929|PMID:30029694|PMID:7738175|PMID:7811722|PMID:7846063|PMID:8739956|PMID:8770876|PMID:9003853|PMID:9266371 11719341 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9452 fatty liver disease ISO RGD:733877 D RGD:9068941 20200609 RGD DNA:point mutations: ;1132C>T,1528G>C;LCHAD deficiency,OMIM:609015 PMID:7846063|REF_RGD_ID:1599882 11719381 ELAPOR2 endosome-lysosome associated apoptosis and autophagy regulator family member 2 gene DOID:1826 epilepsy ISO RGD:1603535 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 11719381 ELAPOR2 endosome-lysosome associated apoptosis and autophagy regulator family member 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603535 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11719381 ELAPOR2 endosome-lysosome associated apoptosis and autophagy regulator family member 2 gene DOID:630 genetic disease ISO RGD:1603535 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719411 HSF2 heat shock transcription factor 2 gene DOID:0060224 atrial fibrillation ISO RGD:68578 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 11719411 HSF2 heat shock transcription factor 2 gene DOID:1826 epilepsy ISO RGD:68578 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11719411 HSF2 heat shock transcription factor 2 gene DOID:630 genetic disease ISO RGD:68578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719429 SERPINE3 serpin family E member 3 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:2301110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11719429 SERPINE3 serpin family E member 3 gene DOID:1059 intellectual disability ISO RGD:2301110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11719429 SERPINE3 serpin family E member 3 gene DOID:630 genetic disease ISO RGD:2301110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719429 SERPINE3 serpin family E member 3 gene DOID:893 Wilson disease ISO RGD:2301110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:28492532 11719440 CCDC91 coiled-coil domain containing 91 gene DOID:12849 autistic disorder ISO RGD:1605359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11719440 CCDC91 coiled-coil domain containing 91 gene DOID:303 substance-related disorder ISO RGD:1605359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11719440 CCDC91 coiled-coil domain containing 91 gene DOID:630 genetic disease ISO RGD:1605359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719479 DDO D-aspartate oxidase gene DOID:1876 sexual dysfunction ISO RGD:1314668 D RGD:9068941 20211015 CTD CTD Direct Evidence: marker/mechanism PMID:16525061 11719479 DDO D-aspartate oxidase gene DOID:630 genetic disease ISO RGD:1314668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719479 DDO D-aspartate oxidase gene DOID:9004657 Weight Gain ISO RGD:1314668 D RGD:9068941 20211015 CTD CTD Direct Evidence: marker/mechanism PMID:16525061 11719479 DDO D-aspartate oxidase gene DOID:9004866 Ataxia ISO RGD:1314668 D RGD:9068941 20211015 CTD CTD Direct Evidence: therapeutic PMID:25979765 11719491 MOCOS molybdenum cofactor sulfurase gene DOID:1059 intellectual disability ISO RGD:1318297 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11719491 MOCOS molybdenum cofactor sulfurase gene DOID:12450 pancytopenia ISO RGD:1318297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29935280 11719491 MOCOS molybdenum cofactor sulfurase gene DOID:2977 primary hyperoxaluria ISO RGD:1318297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:25741868 11719491 MOCOS molybdenum cofactor sulfurase gene DOID:630 genetic disease ISO RGD:1318297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11719491 MOCOS molybdenum cofactor sulfurase gene DOID:865 vasculitis ISO RGD:1318297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29935280 11719491 MOCOS molybdenum cofactor sulfurase gene DOID:9004466 Xanthinuria, Type II ISO RGD:1318297 D RGD:7240710 20190315 OMIM 11719491 MOCOS molybdenum cofactor sulfurase gene DOID:9004466 Xanthinuria, Type II ISO RGD:1318297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Xanthinuria type II PMID:11302742|PMID:14624414|PMID:16199547|PMID:17368066|PMID:17576681|PMID:25741868|PMID:25967871|PMID:28492532|PMID:29935280|PMID:34440436|PMID:9536098 11719491 MOCOS molybdenum cofactor sulfurase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1318297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29935280 11719517 CFAP97 cilia and flagella associated protein 97 gene DOID:12930 dilated cardiomyopathy ISO RGD:1316452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 11719517 CFAP97 cilia and flagella associated protein 97 gene DOID:630 genetic disease ISO RGD:1316452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719517 CFAP97 cilia and flagella associated protein 97 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1316452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 11719533 RBM38 RNA binding motif protein 38 gene DOID:630 genetic disease ISO RGD:1318308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719533 RBM38 RNA binding motif protein 38 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1318308 D RGD:9068941 20220407 CTD CTD Direct Evidence: therapeutic PMID:34453780 11719533 RBM38 RNA binding motif protein 38 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318308 D RGD:9068941 20220407 CTD CTD Direct Evidence: therapeutic PMID:34453780 11719541 RPIA ribose 5-phosphate isomerase A gene DOID:630 genetic disease ISO RGD:1322805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11719541 RPIA ribose 5-phosphate isomerase A gene DOID:9005223 Ribose 5-Phosphate Isomerase Deficiency ISO RGD:1322805 D RGD:7240710 20180130 OMIM 11719541 RPIA ribose 5-phosphate isomerase A gene DOID:9005223 Ribose 5-Phosphate Isomerase Deficiency ISO RGD:1322805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of ribose-5-phosphate isomerase PMID:10589548|PMID:14988808|PMID:20499043|PMID:25741868|PMID:28492532|PMID:30088433|PMID:31056085 11719554 SLC6A1 solute carrier family 6 member 1 gene DOID:0060001 withdrawal disorder ISO RGD:620533 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:15976529|REF_RGD_ID:1643202 11719554 SLC6A1 solute carrier family 6 member 1 gene DOID:0060001 withdrawal disorder ISO RGD:731475 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14598306 11719554 SLC6A1 solute carrier family 6 member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:731475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:22495306|PMID:24859339|PMID:25741868|PMID:25865495|PMID:28492532|PMID:29315614 11719554 SLC6A1 solute carrier family 6 member 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:731475 D RGD:7240710 20180130 OMIM 11719554 SLC6A1 solute carrier family 6 member 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:731475 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder PMID:14744863|PMID:15496410|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19344873|PMID:22495306|PMID:24859339|PMID:25363768|PMID:25741868|PMID:25865495|PMID:26467025|PMID:26716362|PMID:27541642|PMID:27824329|PMID:27959697|PMID:28135719|PMID:28191889|PMID:28213519|PMID:28492532|PMID:28708303|PMID:28856709|PMID:29315614|PMID:29358611|PMID:29933521|PMID:29961511|PMID:30132828|PMID:30525188|PMID:31031587|PMID:31176687|PMID:31273778|PMID:31302675|PMID:31332282|PMID:31401500|PMID:31780880|PMID:31785789|PMID:31981491|PMID:32005694|PMID:32581362|PMID:32660967|PMID:32913952|PMID:33961861|PMID:34006619|PMID:34489640|PMID:9536098 11719554 SLC6A1 solute carrier family 6 member 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:731475 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy PMID:25865495|PMID:27959697|PMID:28191889|PMID:28492532|PMID:34006619 11719554 SLC6A1 solute carrier family 6 member 1 gene DOID:1059 intellectual disability ISO RGD:731475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11719554 SLC6A1 solute carrier family 6 member 1 gene DOID:1826 epilepsy ISO RGD:731475 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532|PMID:32581362 11719554 SLC6A1 solute carrier family 6 member 1 gene DOID:2316 brain ischemia ISO RGD:620533 D RGD:9068941 20200609 RGD PMID:15084665|REF_RGD_ID:1643209 11719554 SLC6A1 solute carrier family 6 member 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20132478 11719554 SLC6A1 solute carrier family 6 member 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:620533 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:15248296|REF_RGD_ID:1643206 11719554 SLC6A1 solute carrier family 6 member 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:731475 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:15248296|REF_RGD_ID:1643206 11719554 SLC6A1 solute carrier family 6 member 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:731476 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:15248296|REF_RGD_ID:1643206 11719554 SLC6A1 solute carrier family 6 member 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:731475 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:28492532|PMID:29358611 11719554 SLC6A1 solute carrier family 6 member 1 gene DOID:3526 cerebral infarction ISO RGD:620533 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex, neuron PMID:15349978|REF_RGD_ID:1643205 11719554 SLC6A1 solute carrier family 6 member 1 gene DOID:5419 schizophrenia ISO RGD:731475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18923069 11719554 SLC6A1 solute carrier family 6 member 1 gene DOID:5419 schizophrenia ISO RGD:731476 D RGD:9068941 20220825 MouseDO OMIM:181500 11719554 SLC6A1 solute carrier family 6 member 1 gene DOID:630 genetic disease ISO RGD:731475 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12451126|PMID:17576681|PMID:22495306|PMID:23020937|PMID:24859339|PMID:25741868|PMID:25865495|PMID:26467025|PMID:26716362|PMID:28492532|PMID:29315614|PMID:9536098|PMID:9623887 11719554 SLC6A1 solute carrier family 6 member 1 gene DOID:9000641 Pain ISO RGD:731476 D RGD:9068941 20200609 RGD PMID:17918738|REF_RGD_ID:1643217 11719554 SLC6A1 solute carrier family 6 member 1 gene DOID:9004012 Nervous System Lead Poisoning, Adult ISO RGD:620533 D RGD:9068941 20200609 RGD protein:increased expression:brain, synaptosome PMID:15149801|REF_RGD_ID:1643208 11719554 SLC6A1 solute carrier family 6 member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731475 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:27541642|PMID:28492532 11719554 SLC6A1 solute carrier family 6 member 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:731475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11719554 SLC6A1 solute carrier family 6 member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:731475 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25363768|PMID:25741868|PMID:27824329|PMID:28492532|PMID:30132828|PMID:31332282|PMID:31981491|PMID:32581362 11719554 SLC6A1 solute carrier family 6 member 1 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:731475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 11719554 SLC6A1 solute carrier family 6 member 1 gene DOID:9970 obesity ISO RGD:731476 D RGD:9068941 20200609 RGD PMID:11191352|REF_RGD_ID:1643191 11719582 TIMM13 translocase of inner mitochondrial membrane 13 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1352849 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 11719582 TIMM13 translocase of inner mitochondrial membrane 13 gene DOID:630 genetic disease ISO RGD:1352849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719582 TIMM13 translocase of inner mitochondrial membrane 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11719590 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:0050451 Brugada syndrome ISO RGD:1345791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:11839626|PMID:15140536|PMID:16199547|PMID:17967976|PMID:17967977|PMID:19606473|PMID:19666841|PMID:19745168|PMID:19815826|PMID:20724705|PMID:22584458|PMID:22995991|PMID:23414114|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25998140|PMID:26743238|PMID:27435932|PMID:27930701|PMID:28008009|PMID:28492532|PMID:28798025|PMID:28837624|PMID:29077258|PMID:29247119|PMID:29714131|PMID:30662450|PMID:30847666|PMID:31043699|PMID:31618753|PMID:31737537|PMID:31980526|PMID:32695137 11719590 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:0050700 cardiomyopathy ISO RGD:1345791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25741868|PMID:28492532 11719590 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1345791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:15140536|PMID:17967976|PMID:19606473|PMID:19815826|PMID:22995991|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25998140|PMID:28492532|PMID:28837624 11719590 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:0110219 Brugada syndrome 2 ISO RGD:1345791 D RGD:7240710 20180130 OMIM 11719590 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:0110219 Brugada syndrome 2 ISO RGD:1345791 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome 2 PMID:11839626|PMID:15140536|PMID:16199547|PMID:17967976|PMID:17967977|PMID:19606473|PMID:19666841|PMID:19745168|PMID:19815826|PMID:20724705|PMID:22995991|PMID:23414114|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25998140|PMID:26743238|PMID:27435932|PMID:27930701|PMID:28008009|PMID:28492532|PMID:28798025|PMID:28837624|PMID:29077258|PMID:29247119|PMID:29714131|PMID:30662450|PMID:30847666|PMID:31043699|PMID:31618753|PMID:31737537|PMID:31980526|PMID:32695137 11719590 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1345791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:15140536|PMID:17967976|PMID:19606473|PMID:19815826|PMID:22995991|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25998140|PMID:28492532|PMID:28837624 11719590 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1345791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:15140536|PMID:17967976|PMID:19606473|PMID:19815826|PMID:22995991|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25998140|PMID:28492532|PMID:28837624 11719590 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:12930 dilated cardiomyopathy ISO RGD:1345791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 11719590 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:2843 long QT syndrome ISO RGD:1345791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:15140536|PMID:17967976|PMID:19606473|PMID:19815826|PMID:22995991|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25998140|PMID:28492532|PMID:28837624 11719590 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1345791 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532 11719590 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:5419 schizophrenia ISO RGD:1345791 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11719590 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:630 genetic disease ISO RGD:1345791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11719590 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1345791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:11839626|PMID:15140536|PMID:16199547|PMID:17967976|PMID:17967977|PMID:19606473|PMID:19666841|PMID:19745168|PMID:19815826|PMID:20724705|PMID:22584458|PMID:22995991|PMID:23414114|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25998140|PMID:26743238|PMID:27435932|PMID:27930701|PMID:28008009|PMID:28492532|PMID:28798025|PMID:28837624|PMID:29077258|PMID:29247119|PMID:29714131|PMID:30662450|PMID:30847666|PMID:31043699|PMID:31618753|PMID:31980526|PMID:32695137 11719590 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:9006030 Infant Death ISO RGD:1345791 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Death in infancy PMID:11839626|PMID:17967977|PMID:19666841|PMID:19745168|PMID:20724705|PMID:22995991|PMID:23414114|PMID:24033266|PMID:25741868|PMID:26743238|PMID:27435932|PMID:28008009|PMID:28492532|PMID:28798025|PMID:31618753|PMID:32695137 11719590 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:9007 sudden infant death syndrome ISO RGD:1345791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:15140536|PMID:17967976|PMID:19606473|PMID:19815826|PMID:22995991|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25998140|PMID:28492532|PMID:28837624 11719590 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:9007925 Sudden Cardiac Death ISO RGD:1345791 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:23861362|PMID:25741868|PMID:27930701|PMID:28492532 11719590 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:9452 fatty liver disease ISO RGD:1345791 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11719602 GDI1 GDP dissociation inhibitor 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:731728 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11719602 GDI1 GDP dissociation inhibitor 1 gene DOID:0050476 Barth syndrome ISO RGD:731728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11719602 GDI1 GDP dissociation inhibitor 1 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:10630 D RGD:9068941 20220825 MouseDO OMIM:300046 | OMIM:300047 | OMIM:300062 | OMIM:300114 | OMIM:300115 | OMIM:300143 | OMIM:300210 | OMIM:300271 | OMIM:300324 | OMIM:300355 | OMIM:300372 | OMIM:300387 | OMIM:300428 | OMIM:300433 | OMIM:300436 | OMIM:300454 | OMIM:300498 | OMIM:300504 | OMIM:300505 | OMIM:300518 | OMIM:300558 | OMIM:300577 | OMIM:300659 | OMIM:300716 | OMIM:300802 | OMIM:300803 | OMIM:300844 | OMIM:300848 | OMIM:300849 | OMIM:300850 | OMIM:300851 | OMIM:300852 | OMIM:300912 | OMIM:300919 | OMIM:300923 | OMIM:309530 | OMIM:309549 11719602 GDI1 GDP dissociation inhibitor 1 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:731728 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R423P (human) PMID:9668174|REF_RGD_ID:13208831 11719602 GDI1 GDP dissociation inhibitor 1 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:731728 D RGD:9068941 20200609 RGD DNA:nonsense mutation, missense mutation:cds:p.R70X, p.L92P (human) PMID:9620768|REF_RGD_ID:13208823 11719602 GDI1 GDP dissociation inhibitor 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:731728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11719602 GDI1 GDP dissociation inhibitor 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:731728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 11719602 GDI1 GDP dissociation inhibitor 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11719602 GDI1 GDP dissociation inhibitor 1 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:731728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 11719602 GDI1 GDP dissociation inhibitor 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:731728 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11719602 GDI1 GDP dissociation inhibitor 1 gene DOID:0112058 non-syndromic X-linked intellectual disability 41 ISO RGD:731728 D RGD:7240710 20180130 OMIM 11719602 GDI1 GDP dissociation inhibitor 1 gene DOID:0112058 non-syndromic X-linked intellectual disability 41 ISO RGD:731728 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 41 PMID:25559331|PMID:25741868|PMID:26975778|PMID:28492532|PMID:8826463|PMID:9106537|PMID:9620768|PMID:9668174 11719602 GDI1 GDP dissociation inhibitor 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:731728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11719602 GDI1 GDP dissociation inhibitor 1 gene DOID:1059 intellectual disability ISO RGD:731728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 11719602 GDI1 GDP dissociation inhibitor 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:731728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11719602 GDI1 GDP dissociation inhibitor 1 gene DOID:12849 autistic disorder ISO RGD:731728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11719602 GDI1 GDP dissociation inhibitor 1 gene DOID:13628 favism ISO RGD:731728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11719602 GDI1 GDP dissociation inhibitor 1 gene DOID:1561 cognitive disorder ISO RGD:10630 D RGD:9068941 20200609 RGD PMID:18829665|REF_RGD_ID:13208822 11719602 GDI1 GDP dissociation inhibitor 1 gene DOID:2468 psychotic disorder ISO RGD:731728 D RGD:9068941 20200609 RGD associated with Lupus Vasculitis, Central Nervous System PMID:20421581|REF_RGD_ID:13208821 11719602 GDI1 GDP dissociation inhibitor 1 gene DOID:2729 dyskeratosis congenita ISO RGD:731728 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11719602 GDI1 GDP dissociation inhibitor 1 gene DOID:607 paraplegia ISO RGD:731728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11719602 GDI1 GDP dissociation inhibitor 1 gene DOID:630 genetic disease ISO RGD:731728 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11719602 GDI1 GDP dissociation inhibitor 1 gene DOID:9002720 Splenomegaly ISO RGD:731728 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11719602 GDI1 GDP dissociation inhibitor 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:731728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8826463|PMID:9668174 11719602 GDI1 GDP dissociation inhibitor 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:731728 D RGD:9068941 20200609 RGD DNA:frameshift mutation:cds:p.S396PfsX15 (human) PMID:22002931|REF_RGD_ID:13208827 11719602 GDI1 GDP dissociation inhibitor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11719617 MSH6 mutS homolog 6 gene DOID:0060104 cerebellar medulloblastoma ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar medulloblastoma 11719617 MSH6 mutS homolog 6 gene DOID:0070271 Lynch syndrome 1 ISO RGD:1321738 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:10348829|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10699937|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11807791|PMID:12376507|PMID:12732731|PMID:14520694|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15184898|PMID:15236168|PMID:15340264|PMID:1548301|PMID:15483016|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16771955|PMID:16813607|PMID:17117178|PMID:17453009|PMID:17531815|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18409202|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19723918|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20937110|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21239990|PMID:21520333|PMID:21671081|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22691310|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23621914|PMID:23733757|PMID:23755103|PMID:23990280|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24710284|PMID:24728189|PMID:24728327|PMID:25117503|PMID:25142776|PMID:25307252|PMID:25318681|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25617771|PMID:25637381|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26440929|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26832770|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27329137|PMID:27498913|PMID:27601186|PMID:27696107|PMID:28153049|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28591191|PMID:28767289|PMID:28873162|PMID:28878254|PMID:28944238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29785566|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30128536|PMID:30152102|PMID:30267214|PMID:30322717|PMID:30324682|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30608896|PMID:30702970|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31159747|PMID:31391288|PMID:31422818|PMID:31730237|PMID:31965077|PMID:32019284|PMID:32156018|PMID:32661327|PMID:32885271|PMID:33087929|PMID:33422027|PMID:33467402|PMID:33471991|PMID:34519692|PMID:35430768|PMID:35535697|PMID:36073783|PMID:5559809|PMID:8838326|PMID:9354786|PMID:9510473 11719617 MSH6 mutS homolog 6 gene DOID:0070271 Lynch syndrome 1 ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:10348829|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10699937|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11807791|PMID:12376507|PMID:12732731|PMID:14520694|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15236168|PMID:15340264|PMID:1548301|PMID:15483016|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16771955|PMID:16813607|PMID:17117178|PMID:17453009|PMID:17531815|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18409202|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19723918|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20937110|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21239990|PMID:21520333|PMID:21671081|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22691310|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23621914|PMID:23733757|PMID:23755103|PMID:23990280|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24710284|PMID:24728189|PMID:24728327|PMID:25117503|PMID:25142776|PMID:25307252|PMID:25318681|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25617771|PMID:25637381|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26440929|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26832770|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27329137|PMID:27398995|PMID:27498913|PMID:27601186|PMID:27696107|PMID:28153049|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28591191|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28944238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29785566|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30128536|PMID:30152102|PMID:30267214|PMID:30322717|PMID:30324682|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30608896|PMID:30702970|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31159747|PMID:31391288|PMID:31422818|PMID:31730237|PMID:31965077|PMID:32019284|PMID:32156018|PMID:32661327|PMID:32885271|PMID:33087929|PMID:33422027|PMID:33467402|PMID:33471991|PMID:34271781|PMID:34519692|PMID:34637943|PMID:35128723|PMID:35430768|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36073783|PMID:36988593|PMID:5559809|PMID:8838326|PMID:9354786|PMID:9510473|PMID:9774676 11719617 MSH6 mutS homolog 6 gene DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 ISO RGD:1321738 D RGD:7240710 20180130 OMIM 11719617 MSH6 mutS homolog 6 gene DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 ISO RGD:1321738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 PMID:10413423|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:11153917|PMID:11333868|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:12920072|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17117178|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19389263|PMID:19526325|PMID:19575290|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20937110|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21437237|PMID:21520333|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22219001|PMID:22250089|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23755103|PMID:23757202|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24549055|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25648859|PMID:25670083|PMID:25741868|PMID:25751794|PMID:25848751|PMID:25871441|PMID:25892863|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26099011|PMID:26181448|PMID:26206375|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26437257|PMID:26440929|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27331139|PMID:27380347|PMID:27398995|PMID:27443514 11719617 MSH6 mutS homolog 6 gene DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 PMID:27449771|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528518|PMID:28531214|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28932927|PMID:28944238|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29300386|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29785566|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30680046|PMID:30702970|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30877237|PMID:30883245|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31841383|PMID:31845022|PMID:31857677|PMID:31911633|PMID:31921681|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32449172|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33654310|PMID:33693762|PMID:33827469|PMID:33888356|PMID:33937060|PMID:34271781|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35534218|PMID:35535697|PMID:35725860|PMID:35884469|PMID:35886069|PMID:35904628|PMID:36230473|PMID:36988593|PMID:7604266|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 11719617 MSH6 mutS homolog 6 gene DOID:0080199 colorectal carcinoma ISO RGD:1321738 D RGD:9068941 20200609 RGD PMID:9401011|REF_RGD_ID:1625103 11719617 MSH6 mutS homolog 6 gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:25741868|PMID:26467025|PMID:27028851|PMID:28492532|PMID:29967336 11719617 MSH6 mutS homolog 6 gene DOID:0080643 B-lymphoblastic leukemia/lymphoma with BCR-ABL1 ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 PMID:22658618|PMID:25741868|PMID:28492532 11719617 MSH6 mutS homolog 6 gene DOID:0110845 xeroderma pigmentosum group D ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group D PMID:25741868|PMID:28492532|PMID:33471991 11719617 MSH6 mutS homolog 6 gene DOID:0110957 Gaucher's disease type I ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gaucher disease type I PMID:22493294 11719617 MSH6 mutS homolog 6 gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:1321738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:23621914|PMID:24033266|PMID:25142776|PMID:25326637|PMID:25741868|PMID:25980754|PMID:26689913|PMID:28492532|PMID:29684080|PMID:29945567|PMID:30267214|PMID:31159747|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31921681 11719617 MSH6 mutS homolog 6 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 11719617 MSH6 mutS homolog 6 gene DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 ISO RGD:1321738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 PMID:23621914|PMID:24033266|PMID:25142776|PMID:25326637|PMID:25741868|PMID:25980754|PMID:26689913|PMID:28492532|PMID:29684080|PMID:29945567|PMID:30267214|PMID:31159747|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31921681 11719617 MSH6 mutS homolog 6 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Constitutional mismatch repair deficiency syndrome | ClinVar Annotator: match by term: MMR DEFICIENCY | ClinVar Annotator: match by term: Turcot syndrome PMID:10508506|PMID:10537275|PMID:10612827|PMID:11470537|PMID:11807791|PMID:12019211|PMID:14520694|PMID:15483016|PMID:15872200|PMID:16000562|PMID:16283678|PMID:16813607|PMID:17531815|PMID:17557300|PMID:17594722|PMID:18269114|PMID:18301448|PMID:18809606|PMID:19389263|PMID:20028993|PMID:20379851|PMID:20487569|PMID:20531397|PMID:20937110|PMID:21120944|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22703879|PMID:22851212|PMID:23047549|PMID:23359684|PMID:23621914|PMID:23729658|PMID:23733757|PMID:24033266|PMID:24040339|PMID:24100870|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24448499|PMID:24728327|PMID:25133505|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25892863|PMID:25980754|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26552419|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27398995|PMID:27487738|PMID:28125075|PMID:28135145|PMID:28206961|PMID:28323777|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28528518|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29755653|PMID:29887214|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30267214|PMID:30322717|PMID:30324682|PMID:30702970|PMID:30982232|PMID:31100584|PMID:31159747|PMID:31204389|PMID:31307542|PMID:31360874|PMID:31391288|PMID:31422818|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31965077|PMID:32068069|PMID:32547938|PMID:32658311|PMID:32719484|PMID:32773772|PMID:32832836|PMID:32980694|PMID:33008098|PMID:33294277|PMID:33422027|PMID:33471991|PMID:35904628|PMID:36988593 11719617 MSH6 mutS homolog 6 gene DOID:10534 stomach cancer ISO RGD:1321738 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10471527|PMID:10508506|PMID:11807791|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14974087|PMID:15098177|PMID:15236168|PMID:15365995|PMID:15483016|PMID:15837969|PMID:16199547|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16813607|PMID:16885385|PMID:17082796|PMID:17117178|PMID:17453009|PMID:17557300|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18566915|PMID:18809606|PMID:19072991|PMID:19130300|PMID:19526325|PMID:19723918|PMID:19851887|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20587412|PMID:20591884|PMID:20682701|PMID:20937110|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21642682|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22250089|PMID:22480969|PMID:22495361|PMID:22734033|PMID:22949379|PMID:23047549|PMID:23263490|PMID:23621914|PMID:23700467|PMID:23733757|PMID:23757202|PMID:24033266|PMID:24068316|PMID:24100870|PMID:24244552|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24728189|PMID:24933100|PMID:25006859|PMID:25110875|PMID:25117503|PMID:25194673|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26318770|PMID:26374070|PMID:26436112|PMID:26467025|PMID:26552419|PMID:26681312|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:27064304|PMID:27398995|PMID:27601186|PMID:27696107|PMID:27723366|PMID:27854360|PMID:27965287|PMID:27978560|PMID:28176205|PMID:28195393|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:28724667|PMID:29212164|PMID:29360161|PMID:29371908|PMID:29785566|PMID:29978187|PMID:30019097|PMID:30093976|PMID:30147880|PMID:30322717|PMID:30324682|PMID:30387329|PMID:30521064|PMID:30536544|PMID:30702970|PMID:30730459|PMID:30787465|PMID:31391288|PMID:31447099|PMID:31491536|PMID:31501241|PMID:31730237|PMID:31783044|PMID:31845022|PMID:31857677|PMID:31921681|PMID:32008151|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32141610|PMID:32242007|PMID:32449172|PMID:32652087|PMID:32660107|PMID:32719484|PMID:32832836|PMID:33087929|PMID:33393477|PMID:33422027|PMID:33693762|PMID:34271781|PMID:34425783|PMID:34637943|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36988593|PMID:9307272|PMID:9929971 11719617 MSH6 mutS homolog 6 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1321738 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:18254781|REF_RGD_ID:2293503 11719617 MSH6 mutS homolog 6 gene DOID:12192 sigmoid colon cancer ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sigmoid colon cancer PMID:12376507|PMID:18809606|PMID:19924528|PMID:20176959|PMID:22283331|PMID:24710284|PMID:24728327|PMID:25536104|PMID:25741868|PMID:26046366|PMID:26467025|PMID:28492532|PMID:9354786 11719617 MSH6 mutS homolog 6 gene DOID:1380 endometrial cancer ISO RGD:1321738 D RGD:7240710 20190213 OMIM 11719617 MSH6 mutS homolog 6 gene DOID:1520 colon carcinoma ISO RGD:1321738 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10413423|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10699937|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12537658|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14585961|PMID:14871975|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15236168|PMID:15340264|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15805151|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18176851|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18415027|PMID:18523027|PMID:18566915|PMID:18625694|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19130300|PMID:19250818|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19851887|PMID:19924528|PMID:20007843|PMID:20028993|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20587412|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21520333|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22219001|PMID:22250089|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23263490|PMID:23294250|PMID:23403630|PMID:23523604|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23990280|PMID:24033266|PMID:24072394|PMID:24100870|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:25117503|PMID:25186627|PMID:25231023|PMID:25307252|PMID:25318681|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25561518|PMID:25617771|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25751794|PMID:25871441|PMID:25980754|PMID:26023681|PMID:26181448|PMID:26274037|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787237|PMID:26845104|PMID:26898890|PMID:26900293|PMID:27013479|PMID:27028851|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27498913|PMID:27601186|PMID:27723366|PMID:27863258|PMID:28125075|PMID:28135145|PMID:28153049|PMID:28176205|PMID:28323777|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28528517|PMID:28531214|PMID:28687356|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28944238|PMID:29212164|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29575718|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29887214|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30306255|PMID:30322717|PMID:30337059|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30729418|PMID:31054147|PMID:31100584|PMID:31159747|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31447099|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31647837|PMID:31730237|PMID:31857677|PMID:31965077|PMID:31997046|PMID:32008151|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32242007|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32809219|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33693762|PMID:8838326|PMID:9345684|PMID:9536098 11719617 MSH6 mutS homolog 6 gene DOID:1520 colon carcinoma ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:10413423|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10699937|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12537658|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14585961|PMID:14871975|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15236168|PMID:15340264|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15805151|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18176851|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18415027|PMID:18523027|PMID:18566915|PMID:18625694|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19130300|PMID:19250818|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19723918|PMID:19851887|PMID:19924528|PMID:20007843|PMID:20028993|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20587412|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21520333|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22219001|PMID:22250089|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23263490|PMID:23294250|PMID:23403630|PMID:23523604|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23990280|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24100870|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:25117503|PMID:25186627|PMID:25231023|PMID:25307252|PMID:25318681|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25561518|PMID:25617771|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25751794|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26181448|PMID:26274037|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26681312|PMID:26689913|PMID:26787237|PMID:26845104|PMID:26898890|PMID:26900293|PMID:27013479|PMID:27028851|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27498913|PMID:27601186|PMID:27723366|PMID:27863258|PMID:28125075|PMID:28135145|PMID:28153049|PMID:28176205|PMID:28323777|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28528517|PMID:28531214|PMID:28591191|PMID:28687356|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28944238|PMID:29174094|PMID:29212164|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29575718|PMID:29641532|PMID:29684080|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29887214|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30376427|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30787465|PMID:30877237|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31159747|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31447099|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31647837|PMID:31660093|PMID:31730237|PMID:31845022|PMID:31857677|PMID:31921681|PMID:31965077|PMID:31997046|PMID:32008151|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32068069|PMID:32156018|PMID:32242007|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32832836 11719617 MSH6 mutS homolog 6 gene DOID:1520 colon carcinoma ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:32854451|PMID:32885271|PMID:32906206|PMID:33087929|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33693762|PMID:33746161|PMID:34425783|PMID:35128723|PMID:35263119|PMID:36988593|PMID:8838326|PMID:9345684|PMID:9536098|PMID:9774676 11719617 MSH6 mutS homolog 6 gene DOID:1612 breast cancer ISO RGD:1321738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:15952900|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21520333|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:23729658|PMID:24033266|PMID:24055113|PMID:24100870|PMID:24323032|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26901136|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28166811|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29684080|PMID:29785566|PMID:29945567|PMID:30122538|PMID:30267214|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31921681|PMID:32019277|PMID:32615015|PMID:32980694|PMID:33471991 11719617 MSH6 mutS homolog 6 gene DOID:1612 breast cancer ISO RGD:1321738 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26901136|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29684080|PMID:29785566|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31921681|PMID:32019277|PMID:32615015|PMID:32634176|PMID:32980694|PMID:33471991 11719617 MSH6 mutS homolog 6 gene DOID:1612 breast cancer ISO RGD:1321738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18206535|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21520333|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26901136|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28206961|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29785566|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31666926|PMID:31921681|PMID:32019277|PMID:32068069|PMID:32547938|PMID:32615015|PMID:32634176|PMID:32658311|PMID:32659497|PMID:32804454|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33471991|PMID:34271781|PMID:34637943|PMID:35263119|PMID:35534218|PMID:35535697|PMID:35725860|PMID:35884469 11719617 MSH6 mutS homolog 6 gene DOID:1612 breast cancer ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18206535|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21520333|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26901136|PMID:27398995|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28206961|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29785566|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31666926|PMID:31921681|PMID:32019277|PMID:32068069|PMID:32547938|PMID:32615015|PMID:32634176|PMID:32658311|PMID:32659497|PMID:32804454|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33471991|PMID:34271781|PMID:34637943|PMID:35263119|PMID:35534218|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36988593 11719617 MSH6 mutS homolog 6 gene DOID:1896 sigmoid neoplasm ISO RGD:1321738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sigmoid colon cancer PMID:12376507|PMID:18809606|PMID:19924528|PMID:20176959|PMID:22283331|PMID:24710284|PMID:24728327|PMID:25536104|PMID:25741868|PMID:26046366|PMID:26467025|PMID:28492532|PMID:9354786 11719617 MSH6 mutS homolog 6 gene DOID:234 colon adenocarcinoma ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma PMID:25741868 11719617 MSH6 mutS homolog 6 gene DOID:2394 ovarian cancer ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:10508506|PMID:10537275|PMID:11470537|PMID:12019211|PMID:15782118|PMID:16408224|PMID:16885385|PMID:17312306|PMID:17531815|PMID:17594722|PMID:18566915|PMID:21120944|PMID:22102614|PMID:22495361|PMID:23047549|PMID:23403630|PMID:23621914|PMID:24033266|PMID:24040339|PMID:24100870|PMID:24448499|PMID:25559809|PMID:25637381|PMID:25741868|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26580448|PMID:26689913|PMID:27601186|PMID:28466842|PMID:28492532|PMID:28531214|PMID:28873162|PMID:29945567|PMID:30267214|PMID:30982232|PMID:31307542|PMID:31742824|PMID:32068069|PMID:33294277|PMID:33471991 11719617 MSH6 mutS homolog 6 gene DOID:2871 endometrial carcinoma ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10471527|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12537658|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14585961|PMID:14871975|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16408224|PMID:16418736|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17259933|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17661183|PMID:17718861|PMID:17909073|PMID:18033691|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18625694|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19130300|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19526325|PMID:19575290|PMID:19851887|PMID:19924528|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20937110|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21520333|PMID:21642682|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22734033|PMID:22810696|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23263490|PMID:23359684|PMID:23523604|PMID:23621914|PMID:23652311|PMID:23729658|PMID:23733757|PMID:23757202|PMID:23773459|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24100870|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24448499|PMID:24549055|PMID:24689082|PMID:24728189|PMID:24728327|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25231023|PMID:25318681|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25561518|PMID:25617771|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26099011|PMID:26206375|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26436109|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26648449|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26901136|PMID:26934580|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27329137|PMID:27380347|PMID:27398995|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27487738|PMID:27498913|PMID:27601186|PMID:27696107|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27920101|PMID:27930734|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28323777|PMID:28369758|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:28528518|PMID:28531214|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28912153|PMID:28944238|PMID:29212164|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29717530|PMID:29755653|PMID:29887214|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29978187|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30128536|PMID:30147880|PMID:30225334|PMID:30267214|PMID:30322717|PMID:30324682|PMID:30387329|PMID:30521064|PMID:30608896|PMID:30612635|PMID:30670635|PMID:30702970|PMID:30730459|PMID:30787465|PMID:30877237 11719617 MSH6 mutS homolog 6 gene DOID:2871 endometrial carcinoma ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31159747|PMID:31204389|PMID:31297337|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31447099|PMID:31501241|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31783044|PMID:31844177|PMID:31845022|PMID:31857677|PMID:31921681|PMID:3195077|PMID:31965077|PMID:31970404|PMID:32008151|PMID:32019284|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32113160|PMID:32141610|PMID:32242007|PMID:32251017|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32615015|PMID:32642664|PMID:32658311|PMID:32660107|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33294277|PMID:33422027|PMID:33471991|PMID:33606809|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:35128723|PMID:35263119|PMID:35884469|PMID:35904628|PMID:36988593|PMID:5559809|PMID:8063241|PMID:9307272|PMID:9536098|PMID:9774676|PMID:9929971 11719617 MSH6 mutS homolog 6 gene DOID:3247 rhabdomyosarcoma ISO RGD:1321738 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:21520333|PMID:26467025|PMID:28153049|PMID:28492532|PMID:29750335|PMID:29755653|PMID:30128536|PMID:31100584|PMID:31965077|PMID:33467402 11719617 MSH6 mutS homolog 6 gene DOID:3347 osteosarcoma disease_progression ISO RGD:1321738 D RGD:9068941 20210430 RGD PMID:25503122|REF_RGD_ID:126848779 11719617 MSH6 mutS homolog 6 gene DOID:3459 breast carcinoma ISO RGD:1321738 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Carcinoma of breast PMID:10537275|PMID:10699937|PMID:11470537|PMID:12019211|PMID:12732731|PMID:15098177|PMID:15236168|PMID:15483016|PMID:15782118|PMID:15805151|PMID:16203774|PMID:16270383|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16771955|PMID:16885385|PMID:18269114|PMID:18301448|PMID:18355840|PMID:18409202|PMID:18523027|PMID:18566915|PMID:19072991|PMID:20028993|PMID:20487569|PMID:21039432|PMID:21056691|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23263490|PMID:23621914|PMID:24033266|PMID:24040339|PMID:24362816|PMID:25117503|PMID:25479140|PMID:25559809|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26832770|PMID:27601186|PMID:27696107|PMID:28176205|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28514183|PMID:29212164|PMID:29345684|PMID:29785566|PMID:29978187|PMID:30521064|PMID:31391288|PMID:31857677|PMID:31965077|PMID:32242007|PMID:33471991|PMID:8838326 11719617 MSH6 mutS homolog 6 gene DOID:3459 breast carcinoma ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:10537275|PMID:10699937|PMID:11470537|PMID:12019211|PMID:12732731|PMID:15098177|PMID:15236168|PMID:15483016|PMID:15782118|PMID:15805151|PMID:16203774|PMID:16270383|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16771955|PMID:16885385|PMID:18269114|PMID:18301448|PMID:18355840|PMID:18409202|PMID:18523027|PMID:18566915|PMID:19072991|PMID:20028993|PMID:20487569|PMID:21039432|PMID:21056691|PMID:21520333|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23263490|PMID:23621914|PMID:24033266|PMID:24040339|PMID:24362816|PMID:25117503|PMID:25479140|PMID:25559809|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26832770|PMID:27398995|PMID:27601186|PMID:27696107|PMID:28176205|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28514183|PMID:29212164|PMID:29345684|PMID:29785566|PMID:29978187|PMID:30521064|PMID:31391288|PMID:31857677|PMID:31965077|PMID:32242007|PMID:33471991|PMID:34271781|PMID:34637943|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36988593|PMID:8838326 11719617 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18484749|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23554159|PMID:23612316|PMID:23621914|PMID:23622243|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771 11719617 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:2633163|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27376475|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27920101|PMID:27928858|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28166811|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31857677|PMID:31921681|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32068069|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32820175|PMID:32980694|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33654310|PMID:33809179|PMID:33888356|PMID:4520694|PMID:5559809|PMID:8063241|PMID:8176851|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473 11719617 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:9536098|PMID:9564049|PMID:9774676|PMID:9819445|PMID:9929971 11719617 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18484749|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20301500|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23554159|PMID:23612316|PMID:23621914|PMID:23622243|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518 11719617 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:2633163|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27376475|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27920101|PMID:27928858|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28166811|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31857677|PMID:31921681|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32820175|PMID:32980694|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33654310|PMID:33809179|PMID:33888356|PMID:34519692|PMID:4520694|PMID:5559809|PMID:8063241|PMID:8176851|PMID:8838326|PMID:9307272|PMID:9345684 11719617 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9819445|PMID:9929971 11719617 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18484749|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23612316|PMID:23621914|PMID:23622243|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083 11719617 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27376475|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31470354|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31845022|PMID:31852831|PMID:31857677|PMID:31921681|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32773772|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32885271|PMID:32980694 11719617 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:33008098|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33888356|PMID:34359559|PMID:34445333|PMID:34519692|PMID:35039564|PMID:35535697|PMID:35806449|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971 11719617 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27376475|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854218|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30179225|PMID:30192042|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31845022|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502 11719617 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:32773772|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33888356|PMID:34359559|PMID:34445333|PMID:34519692|PMID:35039564|PMID:35535697|PMID:35806449|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971 11719617 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18484749|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23612316|PMID:23621914|PMID:23622243|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631 11719617 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27376475|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30179225|PMID:30192042|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31845022|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32449172|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107 11719617 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32773772|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33888356|PMID:34359559|PMID:34445333|PMID:34519692|PMID:35039564|PMID:35430768|PMID:35535697|PMID:35806449|PMID:36073783|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971 11719617 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30192042|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30733081|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31841383|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31921681 11719617 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32875559|PMID:32885271|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34145315|PMID:34343771|PMID:34359559|PMID:34425783|PMID:34445333|PMID:34519692|PMID:35039564|PMID:35263119|PMID:35430768|PMID:35535697|PMID:35806449|PMID:36073783|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971 11719617 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18484749|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23612316|PMID:23621914|PMID:23622243|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140 11719617 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30211344|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31609810|PMID:31642931 11719617 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31822864|PMID:31841383|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34145315|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:35039564|PMID:35070997|PMID:35245693|PMID:35263119|PMID:35430768|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:36073783|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971 11719617 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159 11719617 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30211344|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756 11719617 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31822864|PMID:31841383|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34145315|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:35039564|PMID:35070997|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35430768|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35904628|PMID:36073783|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971 11719617 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31822864|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34048176|PMID:34145315|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:35039564|PMID:35070997|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35402282|PMID:35430768|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35904628|PMID:36073783|PMID:36230473|PMID:36988593|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971 11719617 MSH6 mutS homolog 6 gene DOID:3910 lung adenocarcinoma ISO RGD:1321738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21327329 11719617 MSH6 mutS homolog 6 gene DOID:3948 adrenocortical carcinoma ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 11719617 MSH6 mutS homolog 6 gene DOID:4001 ovarian carcinoma ISO RGD:1321738 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:20028993|PMID:25741868|PMID:26517685 11719617 MSH6 mutS homolog 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321738 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10508506|PMID:10521294|PMID:10537275|PMID:10675480|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12537658|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15483016|PMID:16010685|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16885385|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19924528|PMID:20028993|PMID:20176959|PMID:21120944|PMID:21153778|PMID:21239990|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25503501|PMID:25559809|PMID:25561518|PMID:25741868|PMID:25980754|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27273229|PMID:27601186|PMID:28125075|PMID:28135145|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29338689|PMID:29575718|PMID:29684080|PMID:29887214|PMID:30093976|PMID:30159786|PMID:30283497|PMID:30612635|PMID:30982232|PMID:31102422|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31666926|PMID:31965077|PMID:32295079|PMID:32566746|PMID:32773772|PMID:9510473 11719617 MSH6 mutS homolog 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321738 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10508506|PMID:10521294|PMID:10537275|PMID:10675480|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12537658|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15483016|PMID:16010685|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16885385|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19924528|PMID:20028993|PMID:20176959|PMID:21120944|PMID:21153778|PMID:21239990|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25503501|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27273229|PMID:27601186|PMID:28125075|PMID:28135145|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29338689|PMID:29575718|PMID:29684080|PMID:29887214|PMID:30093976|PMID:30159786|PMID:30283497|PMID:30612635|PMID:30982232|PMID:31102422|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31666926|PMID:31965077|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32773772|PMID:33309985|PMID:33471991|PMID:9510473 11719617 MSH6 mutS homolog 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321738 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10508506|PMID:10521294|PMID:10537275|PMID:10675480|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12537658|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15483016|PMID:16010685|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16885385|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19924528|PMID:20028993|PMID:20176959|PMID:21120944|PMID:21153778|PMID:21239990|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25503501|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27273229|PMID:27601186|PMID:28125075|PMID:28135145|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29338689|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30159786|PMID:30283497|PMID:30612635|PMID:30982232|PMID:31102422|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31666926|PMID:31965077|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32773772|PMID:33309985|PMID:33471991|PMID:9510473 11719617 MSH6 mutS homolog 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321738 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10508506|PMID:10521294|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12537658|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15483016|PMID:16010685|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16885385|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19924528|PMID:20028993|PMID:20176959|PMID:21120944|PMID:21153778|PMID:21239990|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25503501|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27273229|PMID:27294619|PMID:27601186|PMID:28125075|PMID:28135145|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29338689|PMID:29345684|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30128536|PMID:30159786|PMID:30283497|PMID:30612635|PMID:30982232|PMID:31102422|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31660093|PMID:31666926|PMID:31965077|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32773772|PMID:32854451|PMID:33309985|PMID:33471991|PMID:9510473 11719617 MSH6 mutS homolog 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10508506|PMID:10521294|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12537658|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15483016|PMID:16010685|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16885385|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19924528|PMID:20028993|PMID:20176959|PMID:21120944|PMID:21153778|PMID:21239990|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25503501|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27273229|PMID:27294619|PMID:27601186|PMID:28125075|PMID:28135145|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29338689|PMID:29345684|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30128536|PMID:30159786|PMID:30283497|PMID:30612635|PMID:30982232|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31660093|PMID:31666926|PMID:31965077|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32773772|PMID:32854451|PMID:33309985|PMID:33471991|PMID:34371384|PMID:9510473 11719617 MSH6 mutS homolog 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19389263|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20587412|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21239990|PMID:21642682|PMID:21674763|PMID:22006311|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27601186|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29212164|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30387329|PMID:30612635|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31845022|PMID:31965077|PMID:32060697|PMID:32068069|PMID:32141610|PMID:32295079|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32660107|PMID:32773772|PMID:32854451|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:34371384|PMID:35128723|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971 11719617 MSH6 mutS homolog 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19389263|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20587412|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21239990|PMID:21642682|PMID:21674763|PMID:22006311|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27601186|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29212164|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30387329|PMID:30612635|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31845022|PMID:31965077|PMID:32060697|PMID:32068069|PMID:32141610|PMID:32295079|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32660107|PMID:32773772|PMID:32854451|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:34371384|PMID:35128723|PMID:36988593|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971 11719617 MSH6 mutS homolog 6 gene DOID:630 genetic disease ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11709755|PMID:17576681|PMID:23621914|PMID:24033266|PMID:24362816|PMID:24728327|PMID:25419514|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26333163|PMID:26467025|PMID:26901136|PMID:28492532|PMID:28691247|PMID:29684080|PMID:30057029|PMID:30267214|PMID:31422818|PMID:32068069|PMID:32615015|PMID:32658311|PMID:33471991|PMID:9536098 11719617 MSH6 mutS homolog 6 gene DOID:6741 bilateral breast cancer ISO RGD:1321738 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: bilateral breast cancer PMID:23047549|PMID:23621914|PMID:25741868|PMID:26467025|PMID:26689913|PMID:28492532|PMID:28687356|PMID:29641532|PMID:29684080|PMID:31159747|PMID:32658311|PMID:33558524 11719617 MSH6 mutS homolog 6 gene DOID:687 hepatoblastoma ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:21520333|PMID:25741868|PMID:28492532 11719617 MSH6 mutS homolog 6 gene DOID:9000027 Microsatellite Instability ISO RGD:1321738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 11719617 MSH6 mutS homolog 6 gene DOID:9000027 Microsatellite Instability ISO RGD:2322311 D RGD:9068941 20210430 RGD PMID:18417481|REF_RGD_ID:2292505 11719617 MSH6 mutS homolog 6 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1321738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29616133 11719617 MSH6 mutS homolog 6 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:18269114|PMID:24362816|PMID:28492532 11719617 MSH6 mutS homolog 6 gene DOID:9003108 CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia PMID:23621914|PMID:24033266|PMID:25142776|PMID:25326637|PMID:25741868|PMID:25980754|PMID:26689913|PMID:28492532|PMID:29684080|PMID:29945567|PMID:30267214|PMID:31159747|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31921681 11719617 MSH6 mutS homolog 6 gene DOID:9003892 Mismatch Repair Cancer Syndrome 1 ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 PMID:10508506|PMID:10537275|PMID:10612827|PMID:11470537|PMID:11807791|PMID:12019211|PMID:14520694|PMID:15483016|PMID:15872200|PMID:16813607|PMID:17531815|PMID:17594722|PMID:18269114|PMID:18301448|PMID:18809606|PMID:19389263|PMID:20028993|PMID:20379851|PMID:20487569|PMID:20937110|PMID:21120944|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22703879|PMID:22851212|PMID:23047549|PMID:23359684|PMID:23621914|PMID:23733757|PMID:24033266|PMID:24040339|PMID:24100870|PMID:24323032|PMID:24362816|PMID:24448499|PMID:24728327|PMID:25133505|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25892863|PMID:25980754|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26552419|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27398995|PMID:27487738|PMID:28125075|PMID:28135145|PMID:28206961|PMID:28323777|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28528518|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29755653|PMID:29887214|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30267214|PMID:30322717|PMID:30324682|PMID:30702970|PMID:30982232|PMID:31100584|PMID:31204389|PMID:31307542|PMID:31360874|PMID:31391288|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31965077|PMID:32068069|PMID:32547938|PMID:32658311|PMID:32719484|PMID:32773772|PMID:32832836|PMID:32980694|PMID:33008098|PMID:33294277|PMID:33422027|PMID:33471991|PMID:35904628|PMID:36988593 11719617 MSH6 mutS homolog 6 gene DOID:9004351 Digestive System Neoplasms ISO RGD:1321738 D RGD:9068941 20200609 RGD PMID:9401011|REF_RGD_ID:1625103 11719617 MSH6 mutS homolog 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:24728327|PMID:25741868|PMID:28492532|PMID:28691247|PMID:30057029 11719617 MSH6 mutS homolog 6 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1321738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29616133 11719617 MSH6 mutS homolog 6 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1321738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary prostate cancer PMID:18269114|PMID:24362816|PMID:28492532 11719617 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23554159|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821 11719617 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:2633163|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27928858|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28166811|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31857677|PMID:31921681|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32068069|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32820175|PMID:32980694|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33654310|PMID:33809179|PMID:33888356|PMID:5559809|PMID:8063241|PMID:8176851|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 11719617 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20301500|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23554159|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794 11719617 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:2633163|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27928858|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28166811|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31857677|PMID:31921681|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32820175|PMID:32980694|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33654310|PMID:33809179|PMID:33888356|PMID:34519692|PMID:5559809|PMID:8063241|PMID:8176851|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 11719617 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441 11719617 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27928858|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31857677|PMID:31921681|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32980694|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33654310|PMID:33809179|PMID:33888356|PMID:34445333|PMID:34519692|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 11719617 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441 11719617 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27928858|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31470354|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31845022|PMID:31852831|PMID:31857677|PMID:31921681|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33888356|PMID:34359559|PMID:34445333|PMID:34519692 11719617 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:35039564|PMID:35535697|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 11719617 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854218|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27928858|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30179225|PMID:30192042|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31845022|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33654310 11719617 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:33693762|PMID:33809179|PMID:33827469|PMID:33888356|PMID:34359559|PMID:34445333|PMID:34519692|PMID:35039564|PMID:35535697|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 11719617 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25712738|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29182773|PMID:29192238|PMID:29212164|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30192042|PMID:30211344|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30733081|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31131953|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31604779|PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044 11719617 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31815888|PMID:31841383|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32875559|PMID:32885271|PMID:32941469|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34145315|PMID:34343771|PMID:34359559|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34873480|PMID:35039564|PMID:35263119|PMID:35535697|PMID:35806449|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 11719617 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31604779|PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31815888|PMID:31841383|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34145315|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:34873480|PMID:35039564|PMID:35070997|PMID:35245693|PMID:35263119|PMID:35534218|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 11719617 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:12920072|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18759827|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20600922|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22204421|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22480969|PMID:22493294|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514 11719617 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25712738|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29174094|PMID:29182773|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30211344|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31131953|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241 11719617 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31570381|PMID:31588121|PMID:31604779|PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31815888|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34048176|PMID:34145315|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:34873480|PMID:35039564|PMID:35070997|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35402282|PMID:35534218|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35904628|PMID:36230473|PMID:36988593|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 11719617 MSH6 mutS homolog 6 gene DOID:9007150 Urogenital Neoplasms ISO RGD:1321738 D RGD:9068941 20200609 RGD DNA, protein:frameshift mutation, decreased expression PMID:16288216|REF_RGD_ID:2293511 11719617 MSH6 mutS homolog 6 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1321738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10508506 11719617 MSH6 mutS homolog 6 gene DOID:9008631 progressive myoclonus epilepsy 5 ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 PMID:23621914|PMID:24033266|PMID:25142776|PMID:25326637|PMID:25741868|PMID:25980754|PMID:26689913|PMID:28492532|PMID:29684080|PMID:29945567|PMID:30267214|PMID:31159747|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31921681 11719617 MSH6 mutS homolog 6 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1321738 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:17576681|PMID:25741868|PMID:28492532|PMID:35806449|PMID:9536098 11719617 MSH6 mutS homolog 6 gene DOID:9009145 Mismatch Repair Cancer Syndrome 3 ISO RGD:1321738 D RGD:7240710 20201202 OMIM 11719617 MSH6 mutS homolog 6 gene DOID:9009145 Mismatch Repair Cancer Syndrome 3 ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mismatch repair cancer syndrome 3 PMID:10508506|PMID:10521294|PMID:10537275|PMID:10699937|PMID:11153917|PMID:11586295|PMID:11709755|PMID:12537658|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14585961|PMID:14871975|PMID:15098177|PMID:15184898|PMID:15236168|PMID:15340263|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15805151|PMID:15837969|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16418736|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17082796|PMID:17117178|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17661183|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19459153|PMID:19526325|PMID:19851887|PMID:19924528|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:21056691|PMID:21155762|PMID:21642682|PMID:21674763|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22734033|PMID:22810696|PMID:22949387|PMID:23047549|PMID:23263490|PMID:23621914|PMID:23652311|PMID:23757202|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24689082|PMID:24728327|PMID:24989436|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25318681|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25980754|PMID:25985138|PMID:26318770|PMID:26467025|PMID:26483394|PMID:26552419|PMID:26681312|PMID:26787237|PMID:26845104|PMID:27028851|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27380347|PMID:27443514|PMID:27456091|PMID:27601186|PMID:27854360|PMID:27863258|PMID:28125075|PMID:28135145|PMID:28176205|PMID:28195393|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28944238|PMID:29212164|PMID:29345684|PMID:29348823|PMID:29371908|PMID:29684080|PMID:29717530|PMID:29978187|PMID:30093976|PMID:30147880|PMID:30322717|PMID:30337059|PMID:30387329|PMID:30521064|PMID:30729418|PMID:30730459|PMID:30787465|PMID:31054147|PMID:31391288|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31666926|PMID:31783044|PMID:31845022|PMID:31857677|PMID:31921681|PMID:31965077|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32042422|PMID:32060697|PMID:32141610|PMID:32242007|PMID:32449172|PMID:32566746|PMID:32660107|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32832836|PMID:33087929|PMID:33471991|PMID:34371384|PMID:34425783|PMID:34519692|PMID:36988593|PMID:9307272|PMID:9929971 11719617 MSH6 mutS homolog 6 gene DOID:9009213 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities PMID:25741868|PMID:28492532|PMID:28691247|PMID:30057029|PMID:30679813|PMID:34505148 11719617 MSH6 mutS homolog 6 gene DOID:9256 colorectal cancer ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10537275|PMID:10612827|PMID:11470537|PMID:11900875|PMID:14520694|PMID:15340264|PMID:15872200|PMID:16813607|PMID:18790734|PMID:19389263|PMID:19766128|PMID:21437237|PMID:22290698|PMID:22851212|PMID:23047549|PMID:23621914|PMID:24033266|PMID:24393486|PMID:24728327|PMID:25186627|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26206375|PMID:26467025|PMID:26530882|PMID:26689913|PMID:26845104|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:29212164|PMID:29368341|PMID:29684080|PMID:30374176|PMID:31159747|PMID:31391288|PMID:31428572|PMID:31965077 11719617 MSH6 mutS homolog 6 gene DOID:9256 colorectal cancer ISO RGD:1321738 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10537275|PMID:10612827|PMID:11470537|PMID:11900875|PMID:14520694|PMID:15340264|PMID:15872200|PMID:16813607|PMID:18269114|PMID:18790734|PMID:19389263|PMID:19766128|PMID:21437237|PMID:22290698|PMID:22851212|PMID:23047549|PMID:23621914|PMID:24033266|PMID:24362816|PMID:24393486|PMID:24728327|PMID:25186627|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26206375|PMID:26467025|PMID:26530882|PMID:26689913|PMID:26845104|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:29212164|PMID:29368341|PMID:29684080|PMID:30374176|PMID:31159747|PMID:31391288|PMID:31428572|PMID:31965077 11719617 MSH6 mutS homolog 6 gene DOID:9256 colorectal cancer ISO RGD:1321738 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10537275|PMID:10612827|PMID:11470537|PMID:11900875|PMID:14520694|PMID:15340264|PMID:15872200|PMID:16813607|PMID:18269114|PMID:18790734|PMID:19389263|PMID:19766128|PMID:21437237|PMID:22290698|PMID:22851212|PMID:23047549|PMID:23621914|PMID:24033266|PMID:24362816|PMID:24393486|PMID:24728327|PMID:25186627|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26206375|PMID:26467025|PMID:26530882|PMID:26689913|PMID:26845104|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:29212164|PMID:29368341|PMID:29684080|PMID:30374176|PMID:31159747|PMID:31391288|PMID:31428572|PMID:31965077|PMID:33471991 11719617 MSH6 mutS homolog 6 gene DOID:9256 colorectal cancer ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10537275|PMID:10612827|PMID:11470537|PMID:11900875|PMID:14520694|PMID:15340264|PMID:15872200|PMID:16813607|PMID:18269114|PMID:18790734|PMID:19389263|PMID:19766128|PMID:21437237|PMID:22290698|PMID:22851212|PMID:23047549|PMID:23621914|PMID:24033266|PMID:24362816|PMID:24393486|PMID:24728327|PMID:25186627|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26206375|PMID:26467025|PMID:26530882|PMID:26689913|PMID:26845104|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:29212164|PMID:29368341|PMID:29684080|PMID:30374176|PMID:30982232|PMID:31159747|PMID:31391288|PMID:31428572|PMID:31965077|PMID:33471991|PMID:35128723 11719617 MSH6 mutS homolog 6 gene DOID:9460 uterine corpus cancer ISO RGD:1321738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:18269114|PMID:24362816|PMID:25741868|PMID:26467025|PMID:28492532 11719637 MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 gene DOID:1059 intellectual disability ISO RGD:1343433 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intellectual disability 11719637 MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 gene DOID:1826 epilepsy ISO RGD:1343433 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11719637 MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 gene DOID:630 genetic disease ISO RGD:1343433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719637 MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343433 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11719670 SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 gene DOID:1059 intellectual disability ISO RGD:1345309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21082655 11719670 SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 gene DOID:2843 long QT syndrome ISO RGD:1345309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11719670 SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 gene DOID:5419 schizophrenia ISO RGD:1557097 D RGD:9068941 20220825 MouseDO OMIM:181500 11719670 SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 gene DOID:630 genetic disease ISO RGD:1345309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719670 SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 gene DOID:9003129 Chromosome 3, Monosomy 3p25 ISO RGD:1345309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21082655 11719670 SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11719670 SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1345309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 11719705 TCEANC transcription elongation factor A N-terminal and central domain containing gene DOID:0050777 Joubert syndrome ISO RGD:2303433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:27081566|PMID:28492532 11719705 TCEANC transcription elongation factor A N-terminal and central domain containing gene DOID:12849 autistic disorder ISO RGD:2303433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11719705 TCEANC transcription elongation factor A N-terminal and central domain containing gene DOID:630 genetic disease ISO RGD:2303433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719705 TCEANC transcription elongation factor A N-terminal and central domain containing gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2303433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11719724 NLRX1 NLR family member X1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1606225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 11719724 NLRX1 NLR family member X1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1606225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11719724 NLRX1 NLR family member X1 gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1606225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:22742743|PMID:28492532 11719724 NLRX1 NLR family member X1 gene DOID:0080690 RASopathy ISO RGD:1606225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:22742743|PMID:28492532 11719724 NLRX1 NLR family member X1 gene DOID:0110651 long QT syndrome 10 ISO RGD:1606225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11719724 NLRX1 NLR family member X1 gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1606225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates PMID:22742743|PMID:28492532 11719724 NLRX1 NLR family member X1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1606225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 11719724 NLRX1 NLR family member X1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1606225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 11719724 NLRX1 NLR family member X1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1606225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 11719724 NLRX1 NLR family member X1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1606225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 11719724 NLRX1 NLR family member X1 gene DOID:2843 long QT syndrome ISO RGD:1606225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11719724 NLRX1 NLR family member X1 gene DOID:5419 schizophrenia ISO RGD:1606225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11719724 NLRX1 NLR family member X1 gene DOID:630 genetic disease ISO RGD:1606225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719724 NLRX1 NLR family member X1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11719724 NLRX1 NLR family member X1 gene DOID:9007661 Dwarfism ISO RGD:1606225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11719782 ARRDC5 arrestin domain containing 5 gene DOID:630 genetic disease ISO RGD:1353583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719793 LSM5 LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:11612 polycystic ovary syndrome ISO RGD:1318552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11719793 LSM5 LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11719793 LSM5 LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:630 genetic disease ISO RGD:1318552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719794 ESYT2 extended synaptotagmin 2 gene DOID:12849 autistic disorder ISO RGD:1606520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11719794 ESYT2 extended synaptotagmin 2 gene DOID:5419 schizophrenia ISO RGD:1606520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11719794 ESYT2 extended synaptotagmin 2 gene DOID:630 genetic disease ISO RGD:1606520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719821 HENMT1 HEN methyltransferase 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1602307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11719821 HENMT1 HEN methyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:1602307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11719821 HENMT1 HEN methyltransferase 1 gene DOID:14227 azoospermia ISO RGD:1602307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 11719821 HENMT1 HEN methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1602307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719839 CAPN10 calpain 10 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:732443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11719839 CAPN10 calpain 10 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:732443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11719839 CAPN10 calpain 10 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:732443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 11719839 CAPN10 calpain 10 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:732443 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11719839 CAPN10 calpain 10 gene DOID:1059 intellectual disability ISO RGD:732443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11719839 CAPN10 calpain 10 gene DOID:11612 polycystic ovary syndrome ISO RGD:732443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycystic ovary syndrome, susceptibility to PMID:11017071|PMID:11481585|PMID:12161543|PMID:14574648|PMID:14602801 11719839 CAPN10 calpain 10 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:732443 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs3792267 (human) PMID:20178008|REF_RGD_ID:4107073 11719839 CAPN10 calpain 10 gene DOID:630 genetic disease ISO RGD:732443 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11719839 CAPN10 calpain 10 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:732443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11719839 CAPN10 calpain 10 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69354 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22012129|REF_RGD_ID:7247733 11719839 CAPN10 calpain 10 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69354 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney cortex PMID:22568896|REF_RGD_ID:7247732 11719839 CAPN10 calpain 10 gene DOID:9006646 Metabolic Syndrome ISO RGD:732443 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:16546286|REF_RGD_ID:1625050 11719839 CAPN10 calpain 10 gene DOID:9007279 Type 2 Diabetes Mellitus 1 ISO RGD:732443 D RGD:7240710 20180130 OMIM 11719839 CAPN10 calpain 10 gene DOID:9007279 Type 2 Diabetes Mellitus 1 ISO RGD:732443 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, 1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus 1, susceptibility to PMID:11017071|PMID:11481585|PMID:12107250|PMID:12161543|PMID:14574648|PMID:14602801|PMID:15240652|PMID:16721485|PMID:25741868|PMID:25773692 11719839 CAPN10 calpain 10 gene DOID:9007692 Insulin Resistance ISO RGD:732443 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs3792267 (human) PMID:11018080|REF_RGD_ID:7247736 11719839 CAPN10 calpain 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69354 D RGD:9068941 20200609 RGD DNA:SNP PMID:14658759|REF_RGD_ID:737693 11719839 CAPN10 calpain 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69354 D RGD:9068941 20200609 RGD mRNA:decreased expression PMID:14646187|REF_RGD_ID:1625063 11719839 CAPN10 calpain 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23349674 11719839 CAPN10 calpain 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732443 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs2975760 (human) PMID:18554168|REF_RGD_ID:7247735 11719839 CAPN10 calpain 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732443 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:16721485|REF_RGD_ID:1625049 11719839 CAPN10 calpain 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732443 D RGD:9068941 20200609 RGD associated with Hypertension;DNA:SNPs:intron:rs3792267, rs2975760 (human) PMID:20406624|REF_RGD_ID:7247734 11719839 CAPN10 calpain 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732443 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:19688040|REF_RGD_ID:4107074 11719839 CAPN10 calpain 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736979 D RGD:9068941 20200609 RGD PMID:22012129|REF_RGD_ID:7247733 11719839 CAPN10 calpain 10 gene DOID:9970 obesity ISO RGD:732443 D RGD:9068941 20200609 RGD DNA:SNPs PMID:16752174|REF_RGD_ID:1625047 11719863 LINC02902 long intergenic non-protein coding RNA 2902 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2303475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11719871 CXXC4 CXXC finger protein 4 gene DOID:630 genetic disease ISO RGD:1354389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719894 BSPRY B-box and SPRY domain containing gene DOID:630 genetic disease ISO RGD:1347567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719903 STX19 syntaxin 19 gene DOID:0111003 Joubert syndrome 8 ISO RGD:1605776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 8 PMID:28492532 11719903 STX19 syntaxin 19 gene DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency ISO RGD:1605776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive PMID:16363235|PMID:22627709|PMID:28492532|PMID:9241758 11719903 STX19 syntaxin 19 gene DOID:2451 protein S deficiency ISO RGD:1605776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Protein S deficiency disease PMID:32581362 11719903 STX19 syntaxin 19 gene DOID:630 genetic disease ISO RGD:1605776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719909 PLCXD2 phosphatidylinositol specific phospholipase C X domain containing 2 gene DOID:630 genetic disease ISO RGD:1345610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719923 EDNRA endothelin receptor type A gene DOID:0050848 obstructive sleep apnea ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:19358946|REF_RGD_ID:4145067 11719923 EDNRA endothelin receptor type A gene DOID:0050848 obstructive sleep apnea ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20083432 11719923 EDNRA endothelin receptor type A gene DOID:0050848 obstructive sleep apnea ISO RGD:737537 D RGD:9068941 20200609 RGD DNA:polymorphism: :-231G>A (human) PMID:20083432|REF_RGD_ID:4892306 11719923 EDNRA endothelin receptor type A gene DOID:0050855 renal fibrosis ISO RGD:2535 D RGD:9068941 20200609 RGD associated with Ureteral obstruction;mRNA:increased expression:kidney PMID:11078391|REF_RGD_ID:7244179 11719923 EDNRA endothelin receptor type A gene DOID:0060365 mandibulofacial dysostosis with alopecia ISO RGD:737537 D RGD:7240710 20180130 OMIM 11719923 EDNRA endothelin receptor type A gene DOID:0060365 mandibulofacial dysostosis with alopecia ISO RGD:737537 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mandibulofacial dysostosis with alopecia PMID:16116593|PMID:20583178|PMID:25741868|PMID:25772936|PMID:28492532 11719923 EDNRA endothelin receptor type A gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:737537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 11719923 EDNRA endothelin receptor type A gene DOID:10247 pleurisy ISO RGD:737538 D RGD:9068941 20200609 RGD PMID:15107459|REF_RGD_ID:4892325 11719923 EDNRA endothelin receptor type A gene DOID:10762 portal hypertension ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:17214938|REF_RGD_ID:4892595 11719923 EDNRA endothelin receptor type A gene DOID:10763 hypertension ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:16157796|REF_RGD_ID:1581830 11719923 EDNRA endothelin receptor type A gene DOID:10763 hypertension ISO RGD:2535 D RGD:9068941 20200609 RGD associated with Uremia PMID:20144075|REF_RGD_ID:4892284 11719923 EDNRA endothelin receptor type A gene DOID:10763 hypertension ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12600921 11719923 EDNRA endothelin receptor type A gene DOID:10763 hypertension ISO RGD:737537 D RGD:9068941 20200609 RGD PMID:14616768|REF_RGD_ID:1580950 11719923 EDNRA endothelin receptor type A gene DOID:1184 nephrotic syndrome ISO RGD:2535 D RGD:9068941 20200609 RGD mRNA:increased expression:Glomerulus PMID:12972712|REF_RGD_ID:7244242 11719923 EDNRA endothelin receptor type A gene DOID:12583 velocardiofacial syndrome ISO RGD:737538 D RGD:9068941 20220825 MouseDO OMIM:192430 11719923 EDNRA endothelin receptor type A gene DOID:1682 congenital heart disease ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9811577 11719923 EDNRA endothelin receptor type A gene DOID:1875 impotence ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:17420087|REF_RGD_ID:2292142 11719923 EDNRA endothelin receptor type A gene DOID:1875 impotence ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18823320 11719923 EDNRA endothelin receptor type A gene DOID:2841 asthma ISO RGD:737538 D RGD:9068941 20200609 RGD PMID:17448648|PMID:18632188|REF_RGD_ID:4892288|REF_RGD_ID:4892322 11719923 EDNRA endothelin receptor type A gene DOID:5844 myocardial infarction ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:12524016|REF_RGD_ID:1580948 11719923 EDNRA endothelin receptor type A gene DOID:6000 congestive heart failure ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28095452 11719923 EDNRA endothelin receptor type A gene DOID:630 genetic disease ISO RGD:737537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719923 EDNRA endothelin receptor type A gene DOID:6364 migraine ISO RGD:737537 D RGD:7240710 20230505 OMIM 11719923 EDNRA endothelin receptor type A gene DOID:6364 migraine ISO RGD:737537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Migraine, resistance to PMID:11376172|PMID:23058564 11719923 EDNRA endothelin receptor type A gene DOID:6432 pulmonary hypertension ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:15243299|PMID:20531217|REF_RGD_ID:1580949|REF_RGD_ID:4892283 11719923 EDNRA endothelin receptor type A gene DOID:6432 pulmonary hypertension ISO RGD:737537 D RGD:9068941 20200609 RGD PMID:18506008|PMID:20562228|REF_RGD_ID:4144877|REF_RGD_ID:4892320 11719923 EDNRA endothelin receptor type A gene DOID:850 lung disease severity ISO RGD:737537 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:20028935|REF_RGD_ID:4892286 11719923 EDNRA endothelin receptor type A gene DOID:9000918 Disease Progression ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25194819 11719923 EDNRA endothelin receptor type A gene DOID:9000965 Neoplasm Metastasis ISO RGD:737538 D RGD:9068941 20200609 RGD associated with Bladder Neoplasms PMID:21183790|REF_RGD_ID:4892282 11719923 EDNRA endothelin receptor type A gene DOID:9002165 Diabetic Nephropathies ISO RGD:2535 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21191784|REF_RGD_ID:4892326 11719923 EDNRA endothelin receptor type A gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:737538 D RGD:9068941 20200609 RGD PMID:9649553|REF_RGD_ID:734910 11719923 EDNRA endothelin receptor type A gene DOID:9002762 Ovarian Neoplasms ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25194819 11719923 EDNRA endothelin receptor type A gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17032313 11719923 EDNRA endothelin receptor type A gene DOID:9005372 Inflammation ISO RGD:737538 D RGD:9068941 20200609 RGD PMID:18632188|REF_RGD_ID:4892288 11719923 EDNRA endothelin receptor type A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:20690982|REF_RGD_ID:4892336 11719923 EDNRA endothelin receptor type A gene DOID:9007096 Stroke ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:17597600|REF_RGD_ID:4892584 11719923 EDNRA endothelin receptor type A gene DOID:9007096 Stroke ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 11719923 EDNRA endothelin receptor type A gene DOID:9007102 Myocardial Ischemia ISO RGD:737537 D RGD:9068941 20200609 RGD PMID:14729387|REF_RGD_ID:1580946 11719923 EDNRA endothelin receptor type A gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:12799311|REF_RGD_ID:1581841 11719923 EDNRA endothelin receptor type A gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:18586023|REF_RGD_ID:4892580 11719923 EDNRA endothelin receptor type A gene DOID:9008091 Optic Nerve Injuries ISO RGD:2535 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:18600494|REF_RGD_ID:4892579 11719923 EDNRA endothelin receptor type A gene DOID:9008731 Craniofacial Abnormalities ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17294360|PMID:9811577 11719923 EDNRA endothelin receptor type A gene DOID:9009073 Diaphragmatic Hernia ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10693666|PMID:9473106 11719923 EDNRA endothelin receptor type A gene DOID:9279 hyperhomocysteinemia ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:19371338|REF_RGD_ID:4892572 11719923 EDNRA endothelin receptor type A gene DOID:9352 type 2 diabetes mellitus ISO RGD:2535 D RGD:9068941 20200609 RGD protein:increased expression:mesenteric artery PMID:19286964|REF_RGD_ID:2313280 11719923 EDNRA endothelin receptor type A gene DOID:9352 type 2 diabetes mellitus ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16387788 11719923 EDNRA endothelin receptor type A gene DOID:9675 pulmonary emphysema ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:19897563|REF_RGD_ID:4892307 11719934 SH3GL1 SH3 domain containing GRB2 like 1, endophilin A2 gene DOID:13938 amenorrhea ISO RGD:1351797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11719934 SH3GL1 SH3 domain containing GRB2 like 1, endophilin A2 gene DOID:3070 high grade glioma disease_progression ISO RGD:1351797 D RGD:9068941 20200609 RGD PMID:23050879|REF_RGD_ID:13463483 11719934 SH3GL1 SH3 domain containing GRB2 like 1, endophilin A2 gene DOID:3070 high grade glioma disease_progression ISO RGD:708456 D RGD:9068941 20200609 RGD PMID:23050879|REF_RGD_ID:13463483 11719934 SH3GL1 SH3 domain containing GRB2 like 1, endophilin A2 gene DOID:3070 high grade glioma severity ISO RGD:1351797 D RGD:9068941 20200609 RGD protein:increased expression:cytoplasm,white matter: PMID:23050879|REF_RGD_ID:13463483 11719934 SH3GL1 SH3 domain containing GRB2 like 1, endophilin A2 gene DOID:630 genetic disease ISO RGD:1351797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719934 SH3GL1 SH3 domain containing GRB2 like 1, endophilin A2 gene DOID:684 hepatocellular carcinoma ISO RGD:1351797 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:33838155 11719934 SH3GL1 SH3 domain containing GRB2 like 1, endophilin A2 gene DOID:9119 acute myeloid leukemia ISO RGD:1351797 D RGD:7240710 20180130 OMIM 11719934 SH3GL1 SH3 domain containing GRB2 like 1, endophilin A2 gene DOID:9119 acute myeloid leukemia ISO RGD:1351797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:25741868 11719951 CALN1 calneuron 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11719951 CALN1 calneuron 1 gene DOID:630 genetic disease ISO RGD:1314120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11719951 CALN1 calneuron 1 gene DOID:9005747 Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability ISO RGD:1314120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability PMID:23332918 11719977 DHX36 DEAH-box helicase 36 gene DOID:630 genetic disease ISO RGD:1318732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720006 TRPC1 transient receptor potential cation channel subfamily C member 1 gene DOID:10283 prostate cancer ISO RGD:734058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11720006 TRPC1 transient receptor potential cation channel subfamily C member 1 gene DOID:10534 stomach cancer severity ISO RGD:734058 D RGD:9068941 20220616 RGD mRNA:altered expression:stomach tumor (human) PMID:28035468|REF_RGD_ID:152995287 11720006 TRPC1 transient receptor potential cation channel subfamily C member 1 gene DOID:630 genetic disease ISO RGD:734058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720006 TRPC1 transient receptor potential cation channel subfamily C member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:619783 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney, liver PMID:18184923|REF_RGD_ID:2301838 11720006 TRPC1 transient receptor potential cation channel subfamily C member 1 gene DOID:9002211 Hyperalgesia ISO RGD:619783 D RGD:9068941 20200609 RGD associated with Inflammation PMID:19439599|REF_RGD_ID:7247605 11720006 TRPC1 transient receptor potential cation channel subfamily C member 1 gene DOID:9003936 Cardiomegaly ISO RGD:734058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17174323 11720006 TRPC1 transient receptor potential cation channel subfamily C member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619783 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney, liver PMID:18184923|REF_RGD_ID:2301838 11720006 TRPC1 transient receptor potential cation channel subfamily C member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:619783 D RGD:9068941 20200609 RGD protein:increased expression:artery smooth muscle PMID:20337661|REF_RGD_ID:7247596 11720039 WWP2 WW domain containing E3 ubiquitin protein ligase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1320797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11720039 WWP2 WW domain containing E3 ubiquitin protein ligase 2 gene DOID:0112288 spondyloepiphyseal dysplasia Nishimura type ISO RGD:1320797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, nishimura type PMID:30804514 11720039 WWP2 WW domain containing E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:1320797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720039 WWP2 WW domain containing E3 ubiquitin protein ligase 2 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1320797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 11720079 LRIT3 leucine rich repeat, Ig-like and transmembrane domains 3 gene DOID:0050534 congenital stationary night blindness ISO RGD:1605227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive PMID:25741868|PMID:28492532 11720079 LRIT3 leucine rich repeat, Ig-like and transmembrane domains 3 gene DOID:0050817 Stargardt disease ISO RGD:1605227 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:27428514|PMID:28492532 11720079 LRIT3 leucine rich repeat, Ig-like and transmembrane domains 3 gene DOID:0110864 congenital stationary night blindness 1F ISO RGD:1605227 D RGD:7240710 20180130 OMIM 11720079 LRIT3 leucine rich repeat, Ig-like and transmembrane domains 3 gene DOID:0110864 congenital stationary night blindness 1F ISO RGD:1605227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1F PMID:22673519|PMID:23246293|PMID:25741868|PMID:28492532 11720079 LRIT3 leucine rich repeat, Ig-like and transmembrane domains 3 gene DOID:630 genetic disease ISO RGD:1605227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11720087 FER FER tyrosine kinase gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314798 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11720087 FER FER tyrosine kinase gene DOID:630 genetic disease ISO RGD:1314798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720087 FER FER tyrosine kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11720087 FER FER tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314798 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11720111 GLUL glutamate-ammonia ligase gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:730955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 11720111 GLUL glutamate-ammonia ligase gene DOID:10652 Alzheimer's disease ISO RGD:730955 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid:significant increase in active protein vs normal patients and controls with other neurological disorders PMID:1361232|REF_RGD_ID:2301429 11720111 GLUL glutamate-ammonia ligase gene DOID:10652 Alzheimer's disease ISO RGD:730955 D RGD:9068941 20200609 RGD protein:increased oxidation:brain PMID:12160938|REF_RGD_ID:2301427 11720111 GLUL glutamate-ammonia ligase gene DOID:11832 visual epilepsy ISO RGD:2710 D RGD:9068941 20200609 RGD PMID:21935729|REF_RGD_ID:10047087 11720111 GLUL glutamate-ammonia ligase gene DOID:12858 Huntington's disease ISO RGD:730955 D RGD:9068941 20200609 RGD PMID:3159462|PMID:6237280|REF_RGD_ID:10046047|REF_RGD_ID:13524508 11720111 GLUL glutamate-ammonia ligase gene DOID:13413 hepatic encephalopathy ISO RGD:730955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10564534 11720111 GLUL glutamate-ammonia ligase gene DOID:1540 parathyroid carcinoma ISO RGD:730955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11720111 GLUL glutamate-ammonia ligase gene DOID:3328 temporal lobe epilepsy ISO RGD:2710 D RGD:9068941 20200609 RGD inhibition results in recurrent seizures PMID:18669513|REF_RGD_ID:2301554 11720111 GLUL glutamate-ammonia ligase gene DOID:3328 temporal lobe epilepsy ISO RGD:730955 D RGD:9068941 20200609 RGD protein:decreased expression, decreased activity:hippocampus PMID:14723991|REF_RGD_ID:2301555 11720111 GLUL glutamate-ammonia ligase gene DOID:3328 temporal lobe epilepsy ISO RGD:736181 D RGD:9068941 20220825 MouseDO 11720111 GLUL glutamate-ammonia ligase gene DOID:5419 schizophrenia ISO RGD:730955 D RGD:9068941 20200609 RGD protein:decreased expression:superior temporal gyrus, anterior cingulate cortex PMID:18562176|REF_RGD_ID:2301556 11720111 GLUL glutamate-ammonia ligase gene DOID:630 genetic disease ISO RGD:730955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720111 GLUL glutamate-ammonia ligase gene DOID:684 hepatocellular carcinoma ISO RGD:730955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 11720111 GLUL glutamate-ammonia ligase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:730955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20118494|PMID:21147764 11720111 GLUL glutamate-ammonia ligase gene DOID:9005683 Metabolic Brain Diseases, Inborn ISO RGD:730955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16267323 11720111 GLUL glutamate-ammonia ligase gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:730955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11720111 GLUL glutamate-ammonia ligase gene DOID:9008125 Glutamine Deficiency, Congenital ISO RGD:730955 D RGD:7240710 20180130 OMIM 11720111 GLUL glutamate-ammonia ligase gene DOID:9008125 Glutamine Deficiency, Congenital ISO RGD:730955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GLUTAMINE SYNTHASE DEFICIENCY, CONGENITAL SYSTEMIC | ClinVar Annotator: match by term: Glutamine deficiency, congenital | ClinVar Annotator: match by term: Glutamine synthetase deficiency, congenital systemic PMID:16267323|PMID:17576681|PMID:21353613|PMID:25741868|PMID:27775558|PMID:28492532|PMID:33150193|PMID:9536098 11720111 GLUL glutamate-ammonia ligase gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:2710 D RGD:9068941 20200609 RGD PMID:6445277|REF_RGD_ID:10047091 11720111 GLUL glutamate-ammonia ligase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11720111 GLUL glutamate-ammonia ligase gene DOID:9970 obesity ISO RGD:2710 D RGD:9068941 20200609 RGD protein:increased activity:skeletal muscle:activity is increased in Zucker fa/fa genetically obese but not dietary obese (fa/?) rats vs non-obese (fa/?) rats PMID:15481771|REF_RGD_ID:2301479 11720111 GLUL glutamate-ammonia ligase gene DOID:9970 obesity ISO RGD:730955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 11720128 GPR180 G protein-coupled receptor 180 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1604518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 11720128 GPR180 G protein-coupled receptor 180 gene DOID:630 genetic disease ISO RGD:1604518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720128 GPR180 G protein-coupled receptor 180 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1604518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11720128 GPR180 G protein-coupled receptor 180 gene DOID:9006419 Congenital Microcoria ISO RGD:1604518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital miosis PMID:32672565 11720158 PIWIL2 piwi like RNA-mediated gene silencing 2 gene DOID:10608 celiac disease ISO RGD:1315877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 11720158 PIWIL2 piwi like RNA-mediated gene silencing 2 gene DOID:630 genetic disease ISO RGD:1315877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720158 PIWIL2 piwi like RNA-mediated gene silencing 2 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1315877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 11720195 EBI3 Epstein-Barr virus induced 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1353395 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11720195 EBI3 Epstein-Barr virus induced 3 gene DOID:10591 pre-eclampsia ameliorates ISO RGD:1589467 D RGD:9068941 20230323 RGD PMID:31203154|REF_RGD_ID:213230155 11720195 EBI3 Epstein-Barr virus induced 3 gene DOID:13938 amenorrhea ISO RGD:1353395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11720195 EBI3 Epstein-Barr virus induced 3 gene DOID:2841 asthma ISO RGD:1615927 D RGD:9068941 20200609 RGD PMID:21255010|REF_RGD_ID:5128488 11720195 EBI3 Epstein-Barr virus induced 3 gene DOID:630 genetic disease ISO RGD:1353395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720195 EBI3 Epstein-Barr virus induced 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1353395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11720202 FAM209B family with sequence similarity 209 member B gene DOID:630 genetic disease ISO RGD:1342812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720212 GGCX gamma-glutamyl carboxylase gene DOID:0080653 urolithiasis ISO RGD:68383 D RGD:9068941 20200609 RGD protein:increased activity:kidney: PMID:9471053|REF_RGD_ID:11040514 11720212 GGCX gamma-glutamyl carboxylase gene DOID:0080653 urolithiasis ISO RGD:68554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9471053 11720212 GGCX gamma-glutamyl carboxylase gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:68554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 11720212 GGCX gamma-glutamyl carboxylase gene DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 ISO RGD:68554 D RGD:7240710 20180130 OMIM 11720212 GGCX gamma-glutamyl carboxylase gene DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 ISO RGD:68554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FACTORS II, VII, IX, AND X, COMBINED DEFICIENCY OF | ClinVar Annotator: match by term: FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY III | ClinVar Annotator: match by term: GLUTAMIC ACID, DEFICIENT GAMMA-CARBOXYLATION OF | ClinVar Annotator: match by term: VITAMIN K-DEPENDENT COAGULATION DEFECT PMID:10934213|PMID:11071668|PMID:15287948|PMID:16720838|PMID:17144668|PMID:18800149|PMID:20075945|PMID:2145029|PMID:25264593|PMID:25741868|PMID:28125048|PMID:28492532|PMID:31727138|PMID:32935436|PMID:33000479|PMID:33507293|PMID:34816548|PMID:34906475|PMID:9845520 11720212 GGCX gamma-glutamyl carboxylase gene DOID:11249 vitamin K deficiency bleeding no_association ISO RGD:68554 D RGD:9068941 20200609 RGD PMID:11154138|REF_RGD_ID:11040513 11720212 GGCX gamma-glutamyl carboxylase gene DOID:1247 blood coagulation disease ISO RGD:68554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19141161 11720212 GGCX gamma-glutamyl carboxylase gene DOID:1588 thrombocytopenia ISO RGD:68554 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532|PMID:32935436 11720212 GGCX gamma-glutamyl carboxylase gene DOID:2213 hemorrhagic disease ISO RGD:68554 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532|PMID:32935436 11720212 GGCX gamma-glutamyl carboxylase gene DOID:3393 coronary artery disease ISO RGD:68554 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 11720212 GGCX gamma-glutamyl carboxylase gene DOID:630 genetic disease ISO RGD:68554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11720212 GGCX gamma-glutamyl carboxylase gene DOID:9002557 Inherited Blood Coagulation Disease ISO RGD:68554 D RGD:9068941 20200609 RGD mutation: L394R PMID:9845520|REF_RGD_ID:1598791 11720212 GGCX gamma-glutamyl carboxylase gene DOID:9003245 Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency ISO RGD:68554 D RGD:7240710 20180130 OMIM 11720212 GGCX gamma-glutamyl carboxylase gene DOID:9003245 Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency ISO RGD:68554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency PMID:17110937|PMID:17576681|PMID:18800149|PMID:25741868|PMID:28125048|PMID:28492532|PMID:29175035|PMID:32935436|PMID:33000479|PMID:33507293|PMID:34816548|PMID:34906475|PMID:9536098|PMID:9615107 11720212 GGCX gamma-glutamyl carboxylase gene DOID:9004931 Coagulation Protein Disorders ISO RGD:68554 D RGD:9068941 20200609 RGD mutation: L394R PMID:9845520|REF_RGD_ID:1598791 11720241 SLTM SAFB like transcription modulator gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1605637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:27666822 11720241 SLTM SAFB like transcription modulator gene DOID:2717 Bloom syndrome ISO RGD:1605637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11720241 SLTM SAFB like transcription modulator gene DOID:630 genetic disease ISO RGD:1605637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720241 SLTM SAFB like transcription modulator gene DOID:9256 colorectal cancer ISO RGD:1605637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11720268 LUC7L3 LUC7 like 3 pre-mRNA splicing factor gene DOID:630 genetic disease ISO RGD:1604358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720316 TTLL9 tubulin tyrosine ligase like 9 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1345675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11720316 TTLL9 tubulin tyrosine ligase like 9 gene DOID:11612 polycystic ovary syndrome ISO RGD:1345675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11720316 TTLL9 tubulin tyrosine ligase like 9 gene DOID:630 genetic disease ISO RGD:1345675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720316 TTLL9 tubulin tyrosine ligase like 9 gene DOID:9007188 Liver Neoplasms ISO RGD:1345675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11720357 BCL6 BCL6 transcription repressor gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1319642 D RGD:9068941 20200609 RGD diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region PMID:11821949|REF_RGD_ID:1600111 11720357 BCL6 BCL6 transcription repressor gene DOID:0050745 diffuse large B-cell lymphoma disease_progression ISO RGD:1319642 D RGD:9068941 20200609 RGD PMID:15701085|REF_RGD_ID:11530023 11720357 BCL6 BCL6 transcription repressor gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1319642 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25543051 11720357 BCL6 BCL6 transcription repressor gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1319642 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15375218 11720357 BCL6 BCL6 transcription repressor gene DOID:5419 schizophrenia ISO RGD:1319642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11720357 BCL6 BCL6 transcription repressor gene DOID:630 genetic disease ISO RGD:1319642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720357 BCL6 BCL6 transcription repressor gene DOID:707 B-cell lymphoma ISO RGD:1319642 D RGD:9068941 20200609 RGD diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region PMID:11821949|REF_RGD_ID:1600111 11720386 LOC100984441 beta-defensin 110 gene DOID:630 genetic disease ISO RGD:1348391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720394 FDFT1 farnesyl-diphosphate farnesyltransferase 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm PMID:32748548 11720394 FDFT1 farnesyl-diphosphate farnesyltransferase 1 gene DOID:5062 phencyclidine abuse ISO RGD:731891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 11720394 FDFT1 farnesyl-diphosphate farnesyltransferase 1 gene DOID:630 genetic disease ISO RGD:731891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720394 FDFT1 farnesyl-diphosphate farnesyltransferase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:731891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 11720394 FDFT1 farnesyl-diphosphate farnesyltransferase 1 gene DOID:83 cataract ISO RGD:61834 D RGD:9068941 20200609 RGD PMID:16440058|REF_RGD_ID:1626611 11720394 FDFT1 farnesyl-diphosphate farnesyltransferase 1 gene DOID:83 cataract ISO RGD:62125 D RGD:9068941 20200609 RGD PMID:16440058|REF_RGD_ID:1626611 11720394 FDFT1 farnesyl-diphosphate farnesyltransferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11720394 FDFT1 farnesyl-diphosphate farnesyltransferase 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 11720394 FDFT1 farnesyl-diphosphate farnesyltransferase 1 gene DOID:9007732 Squalene Synthase Deficiency ISO RGD:731891 D RGD:7240710 20190626 OMIM 11720394 FDFT1 farnesyl-diphosphate farnesyltransferase 1 gene DOID:9007732 Squalene Synthase Deficiency ISO RGD:731891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squalene synthase deficiency PMID:25741868|PMID:29909962|PMID:32027475 11720394 FDFT1 farnesyl-diphosphate farnesyltransferase 1 gene DOID:9505 cannabis abuse ISO RGD:731891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 11720395 PYGO2 pygopus family PHD finger 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1343524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11720395 PYGO2 pygopus family PHD finger 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1343524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11720395 PYGO2 pygopus family PHD finger 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1343524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11720395 PYGO2 pygopus family PHD finger 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1343524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11720395 PYGO2 pygopus family PHD finger 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1343524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11720395 PYGO2 pygopus family PHD finger 2 gene DOID:5812 MHC class II deficiency ISO RGD:1343524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11720395 PYGO2 pygopus family PHD finger 2 gene DOID:630 genetic disease ISO RGD:1343524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720395 PYGO2 pygopus family PHD finger 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11720403 XKRX XK related X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11720403 XKRX XK related X-linked gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1345703 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 11720403 XKRX XK related X-linked gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1345703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 11720403 XKRX XK related X-linked gene DOID:12849 autistic disorder ISO RGD:1345703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11720403 XKRX XK related X-linked gene DOID:630 genetic disease ISO RGD:1345703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720403 XKRX XK related X-linked gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1345703 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 11720410 TMEM38B transmembrane protein 38B gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1347417 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:10545611|PMID:17044012|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19266496|PMID:27065010|PMID:28492532 11720410 TMEM38B transmembrane protein 38B gene DOID:0110343 osteogenesis imperfecta type 14 ISO RGD:1347417 D RGD:7240710 20180130 OMIM 11720410 TMEM38B transmembrane protein 38B gene DOID:0110343 osteogenesis imperfecta type 14 ISO RGD:1347417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 14 PMID:17611541|PMID:23054245|PMID:25741868|PMID:26911354|PMID:28492532 11720410 TMEM38B transmembrane protein 38B gene DOID:12347 osteogenesis imperfecta ISO RGD:1347417 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:24835313|PMID:25741868|PMID:27441836|PMID:28492532|PMID:32123938 11720410 TMEM38B transmembrane protein 38B gene DOID:630 genetic disease ISO RGD:1347417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11720410 TMEM38B transmembrane protein 38B gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1347417 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11720419 FOXL2NB FOXL2 neighbor gene DOID:630 genetic disease ISO RGD:2298743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720441 CRH corticotropin releasing hormone gene DOID:0050562 West syndrome ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11341487 11720441 CRH corticotropin releasing hormone gene DOID:0060001 withdrawal disorder ISO RGD:620505 D RGD:9068941 20200609 RGD mRNA:increased expression:amygdala (rat) PMID:12782395|REF_RGD_ID:5508177 11720441 CRH corticotropin releasing hormone gene DOID:0060001 withdrawal disorder ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12968131|PMID:18596687 11720441 CRH corticotropin releasing hormone gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:730946 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:23086396|PMID:23593457|PMID:24395520 11720441 CRH corticotropin releasing hormone gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:730946 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:23086396|PMID:23593457|PMID:24395520 11720441 CRH corticotropin releasing hormone gene DOID:10652 Alzheimer's disease ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7477348 11720441 CRH corticotropin releasing hormone gene DOID:10652 Alzheimer's disease ISO RGD:730946 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (human) PMID:7477348|REF_RGD_ID:5508831 11720441 CRH corticotropin releasing hormone gene DOID:1129 pituitary apoplexy ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12699433|PMID:12699434 11720441 CRH corticotropin releasing hormone gene DOID:11446 sciatic neuropathy ISO RGD:620505 D RGD:9068941 20200609 RGD mRNA:increased expression:central nucleus of amygdala, bed nucleus of stria terminalis (rat) PMID:21684787|REF_RGD_ID:5490542 11720441 CRH corticotropin releasing hormone gene DOID:13375 temporal arteritis no_association ISO RGD:730946 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:12051390|REF_RGD_ID:1581301 11720441 CRH corticotropin releasing hormone gene DOID:13619 extrahepatic cholestasis ISO RGD:620505 D RGD:9068941 20200609 RGD protein:decreased expression:hypothalamus (rat) PMID:8387536|REF_RGD_ID:5490980 11720441 CRH corticotropin releasing hormone gene DOID:14330 Parkinson's disease ISO RGD:730946 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (human) PMID:3502064|REF_RGD_ID:5508835 11720441 CRH corticotropin releasing hormone gene DOID:1561 cognitive disorder ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16039799 11720441 CRH corticotropin releasing hormone gene DOID:1574 alcohol use disorder ISO RGD:620505 D RGD:9068941 20200609 RGD mRNA:increased expression:central amygdaloid nucleus (rat) PMID:20060104|REF_RGD_ID:5508173 11720441 CRH corticotropin releasing hormone gene DOID:1596 depressive disorder ISO RGD:620505 D RGD:9068941 20200609 RGD mRNA:increased expression:paraventricular nucleus, dorsal raphe nucleus (rat) PMID:20860876|REF_RGD_ID:5147490 11720441 CRH corticotropin releasing hormone gene DOID:1596 depressive disorder ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12438692|PMID:18698320 11720441 CRH corticotropin releasing hormone gene DOID:1824 status epilepticus ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7756609 11720441 CRH corticotropin releasing hormone gene DOID:2030 anxiety disorder ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11440811|PMID:11875628|PMID:12424556|PMID:12438692|PMID:14575894|PMID:16495007|PMID:17293045|PMID:21268831|PMID:22231481|PMID:7816204|PMID:8736133 11720441 CRH corticotropin releasing hormone gene DOID:2303 stereotypic movement disorder ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1914160 11720441 CRH corticotropin releasing hormone gene DOID:2316 brain ischemia ISO RGD:620505 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex (rat) PMID:8541482|REF_RGD_ID:1581300 11720441 CRH corticotropin releasing hormone gene DOID:3328 temporal lobe epilepsy ISO RGD:620505 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus (rat) PMID:9037416|REF_RGD_ID:5508845 11720441 CRH corticotropin releasing hormone gene DOID:3525 middle cerebral artery infarction ISO RGD:620505 D RGD:9068941 20200609 RGD protein:decreased expression:median eminence of hypothalamus (rat) PMID:21741032|REF_RGD_ID:5490538 11720441 CRH corticotropin releasing hormone gene DOID:3612 retinitis ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11384150 11720441 CRH corticotropin releasing hormone gene DOID:446 primary hyperaldosteronism ISO RGD:730947 D RGD:9068941 20220825 MouseDO OMIM:605635 | OMIM:613677 11720441 CRH corticotropin releasing hormone gene DOID:480 movement disease ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21618986 11720441 CRH corticotropin releasing hormone gene DOID:594 panic disorder ISO RGD:730946 D RGD:9068941 20200609 RGD PMID:14675801|REF_RGD_ID:1358525 11720441 CRH corticotropin releasing hormone gene DOID:630 genetic disease ISO RGD:730946 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22984453|PMID:23086396|PMID:23593457|PMID:24395520|PMID:26467025|PMID:28492532 11720441 CRH corticotropin releasing hormone gene DOID:853 polymyalgia rheumatica no_association ISO RGD:730946 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:12051390|REF_RGD_ID:1581301 11720441 CRH corticotropin releasing hormone gene DOID:9000039 Spinal Cord Injuries ISO RGD:620505 D RGD:9068941 20200609 RGD protein:altered expression:spinal cord (rat) PMID:20458328|REF_RGD_ID:5490964 11720441 CRH corticotropin releasing hormone gene DOID:9000641 Pain ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16495007 11720441 CRH corticotropin releasing hormone gene DOID:9000972 Fever ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11852909 11720441 CRH corticotropin releasing hormone gene DOID:9001109 Anorexia ISO RGD:620505 D RGD:9068941 20200609 RGD PMID:12429558|REF_RGD_ID:704394 11720441 CRH corticotropin releasing hormone gene DOID:9001109 Anorexia ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16420149 11720441 CRH corticotropin releasing hormone gene DOID:9001204 Dyspepsia ISO RGD:620505 D RGD:9068941 20200609 RGD protein:increased expression:central nucleus of amygdala, paraventricular hypothalamic nucleus (rat) PMID:21589865|REF_RGD_ID:5490556 11720441 CRH corticotropin releasing hormone gene DOID:9001239 Delayed Puberty ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20002962 11720441 CRH corticotropin releasing hormone gene DOID:9001981 Weight Loss ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8986836 11720441 CRH corticotropin releasing hormone gene DOID:9003674 Chest Pain ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2563132 11720441 CRH corticotropin releasing hormone gene DOID:9004484 Sepsis ISO RGD:620505 D RGD:9068941 20200609 RGD protein:increased expression:hypothalamus (rat) PMID:21549066|REF_RGD_ID:5490558 11720441 CRH corticotropin releasing hormone gene DOID:9005158 Cushing Syndrome ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21359208 11720441 CRH corticotropin releasing hormone gene DOID:9005632 Cocaine-Related Disorders ISO RGD:620505 D RGD:9068941 20200609 RGD mRNA:decreased expression:hypothalamus (rat) PMID:12782395|REF_RGD_ID:5508177 11720441 CRH corticotropin releasing hormone gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10516337|PMID:11797056|PMID:18596687|PMID:19349312|PMID:7796157 11720441 CRH corticotropin releasing hormone gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620505 D RGD:9068941 20200609 RGD mRNA:increased expression:paraventricular hypothalamic nucleus (rat) PMID:9652969|REF_RGD_ID:5508166 11720441 CRH corticotropin releasing hormone gene DOID:9006024 Hypotension ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1320258|PMID:6093200 11720441 CRH corticotropin releasing hormone gene DOID:9007001 Bradycardia ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6093200 11720441 CRH corticotropin releasing hormone gene DOID:9007877 Fetal Hypoxia ISO RGD:620505 D RGD:9068941 20200609 RGD protein:increased expression:paraventricular nucleus of hypothalamus (rat) PMID:19409200|REF_RGD_ID:5491006 11720441 CRH corticotropin releasing hormone gene DOID:9008514 Psychomotor Disorders ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1335535 11720441 CRH corticotropin releasing hormone gene DOID:987 alopecia ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21359208 11720441 CRH corticotropin releasing hormone gene DOID:9970 obesity ISO RGD:620505 D RGD:9068941 20200609 RGD PMID:11564446|REF_RGD_ID:5508830 11720441 CRH corticotropin releasing hormone gene DOID:9970 obesity ISO RGD:730946 D RGD:9068941 20200609 RGD PMID:11564446|REF_RGD_ID:5508830 11720441 CRH corticotropin releasing hormone gene DOID:9993 hypoglycemia ISO RGD:620505 D RGD:9068941 20200609 RGD PMID:12606499|REF_RGD_ID:704397 11720447 MGRN1 mahogunin ring finger 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1353673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11720447 MGRN1 mahogunin ring finger 1 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1353673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 11720447 MGRN1 mahogunin ring finger 1 gene DOID:1826 epilepsy ISO RGD:1353673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11720447 MGRN1 mahogunin ring finger 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1353673 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11720447 MGRN1 mahogunin ring finger 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1353673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 11720447 MGRN1 mahogunin ring finger 1 gene DOID:2018 hyperinsulinism ISO RGD:1558478 D RGD:9068941 20200609 RGD PMID:16638826|REF_RGD_ID:1641947 11720447 MGRN1 mahogunin ring finger 1 gene DOID:4195 hyperglycemia ISO RGD:1558478 D RGD:9068941 20200609 RGD PMID:16638826|REF_RGD_ID:1641947 11720447 MGRN1 mahogunin ring finger 1 gene DOID:630 genetic disease ISO RGD:1353673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720447 MGRN1 mahogunin ring finger 1 gene DOID:9970 obesity ISO RGD:1558478 D RGD:9068941 20200609 RGD PMID:16638826|REF_RGD_ID:1641947 11720477 DEPDC1 DEP domain containing 1 gene DOID:0110016 Leber congenital amaurosis 2 ISO RGD:1315914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 2 PMID:18632300|PMID:28492532|PMID:9326941|PMID:9501220|PMID:9843205 11720477 DEPDC1 DEP domain containing 1 gene DOID:10487 Hirschsprung's disease ISO RGD:1315914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 11720477 DEPDC1 DEP domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1315914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11720477 DEPDC1 DEP domain containing 1 gene DOID:630 genetic disease ISO RGD:1315914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720477 DEPDC1 DEP domain containing 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1315914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11720493 AHSA1 activator of HSP90 ATPase activity 1 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1346562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:28492532 11720493 AHSA1 activator of HSP90 ATPase activity 1 gene DOID:630 genetic disease ISO RGD:1346562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720506 RPL10A ribosomal protein L10a gene DOID:0050553 JMP syndrome ISO RGD:732410 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11720506 RPL10A ribosomal protein L10a gene DOID:3910 lung adenocarcinoma ISO RGD:732410 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11720506 RPL10A ribosomal protein L10a gene DOID:630 genetic disease ISO RGD:732410 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720506 RPL10A ribosomal protein L10a gene DOID:9006205 Animal Disease Models ISO RGD:732410 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11720516 NETO1 neuropilin and tolloid like 1 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1348864 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11720516 NETO1 neuropilin and tolloid like 1 gene DOID:630 genetic disease ISO RGD:1348864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720516 NETO1 neuropilin and tolloid like 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:1348864 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 11720516 NETO1 neuropilin and tolloid like 1 gene DOID:8445 intestinal volvulus ISO RGD:1348864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11720516 NETO1 neuropilin and tolloid like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11720516 NETO1 neuropilin and tolloid like 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1348864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11720585 DDX11 DEAD/H-box helicase 11 gene DOID:0060535 Warsaw breakage syndrome ISO RGD:1315426 D RGD:7240710 20200610 OMIM 11720585 DDX11 DEAD/H-box helicase 11 gene DOID:0060535 Warsaw breakage syndrome ISO RGD:1315426 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Warsaw breakage syndrome PMID:20137776|PMID:20696886|PMID:23033317|PMID:25741868|PMID:26089203|PMID:28492532|PMID:30216658|PMID:31169992|PMID:31287223|PMID:32855419|PMID:34906519 11720585 DDX11 DEAD/H-box helicase 11 gene DOID:10907 microcephaly ISO RGD:1315426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11720585 DDX11 DEAD/H-box helicase 11 gene DOID:630 genetic disease ISO RGD:1315426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28960803 11720585 DDX11 DEAD/H-box helicase 11 gene DOID:9004203 Chromosome Breakage ISO RGD:1315426 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:25561740 11720595 PSMC1 proteasome 26S subunit, ATPase 1 gene DOID:0080054 achondrogenesis type IA ISO RGD:734425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11720595 PSMC1 proteasome 26S subunit, ATPase 1 gene DOID:0081324 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss ISO RGD:734425 D RGD:7240710 20221221 OMIM 11720595 PSMC1 proteasome 26S subunit, ATPase 1 gene DOID:0081324 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss ISO RGD:734425 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss PMID:35861243 11720595 PSMC1 proteasome 26S subunit, ATPase 1 gene DOID:10283 prostate cancer ISO RGD:734425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11720595 PSMC1 proteasome 26S subunit, ATPase 1 gene DOID:630 genetic disease ISO RGD:734425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720610 MMP25 matrix metallopeptidase 25 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1317990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11720610 MMP25 matrix metallopeptidase 25 gene DOID:1826 epilepsy ISO RGD:1317990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11720610 MMP25 matrix metallopeptidase 25 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1317990 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11720610 MMP25 matrix metallopeptidase 25 gene DOID:630 genetic disease ISO RGD:1317990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720620 MGLL monoglyceride lipase gene DOID:0111947 immunodeficiency 21 ISO RGD:734078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 11720620 MGLL monoglyceride lipase gene DOID:11476 osteoporosis ISO RGD:734078 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 11720620 MGLL monoglyceride lipase gene DOID:13938 amenorrhea ISO RGD:734078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11720620 MGLL monoglyceride lipase gene DOID:5082 liver cirrhosis ISO RGD:734078 D RGD:9068941 20201218 CTD CTD Direct Evidence: therapeutic PMID:30301768 11720620 MGLL monoglyceride lipase gene DOID:630 genetic disease ISO RGD:734078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720620 MGLL monoglyceride lipase gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:734078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 11720620 MGLL monoglyceride lipase gene DOID:9270 alkaptonuria ISO RGD:734078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11720643 SSBP4 single stranded DNA binding protein 4 gene DOID:630 genetic disease ISO RGD:1350792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720643 SSBP4 single stranded DNA binding protein 4 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1350792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11720665 MKRN1 makorin ring finger protein 1 gene DOID:0080690 RASopathy ISO RGD:1347564 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 11720665 MKRN1 makorin ring finger protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11720665 MKRN1 makorin ring finger protein 1 gene DOID:630 genetic disease ISO RGD:1347564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720686 SAMD13 sterile alpha motif domain containing 13 gene DOID:630 genetic disease ISO RGD:1606448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720704 PACSIN1 protein kinase C and casein kinase substrate in neurons 1 gene DOID:0050553 JMP syndrome ISO RGD:736787 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11720704 PACSIN1 protein kinase C and casein kinase substrate in neurons 1 gene DOID:630 genetic disease ISO RGD:736787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720721 OTULIN OTU deubiquitinase with linear linkage specificity gene DOID:0080163 otulipenia ISO RGD:1602667 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autoinflammation, panniculitis, and dermatosis syndrome | ClinVar Annotator: match by term: OTULIPENIA PMID:25741868|PMID:27523608|PMID:27559085|PMID:28492532|PMID:30796585|PMID:30804083|PMID:35170849|PMID:35587511 11720721 OTULIN OTU deubiquitinase with linear linkage specificity gene DOID:0080163 otulipenia susceptibility ISO RGD:1602667 D RGD:7240710 20230517 OMIM 11720721 OTULIN OTU deubiquitinase with linear linkage specificity gene DOID:0080801 autosomal dominant craniometaphyseal dysplasia ISO RGD:1602667 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant PMID:11326272|PMID:11326338|PMID:19449425|PMID:20358596|PMID:25741868|PMID:2712793|PMID:28492532 11720721 OTULIN OTU deubiquitinase with linear linkage specificity gene DOID:1059 intellectual disability ISO RGD:1602667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11720721 OTULIN OTU deubiquitinase with linear linkage specificity gene DOID:1156 chondrocalcinosis ISO RGD:1602667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chondrocalcinosis 11720721 OTULIN OTU deubiquitinase with linear linkage specificity gene DOID:630 genetic disease ISO RGD:1602667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11720721 OTULIN OTU deubiquitinase with linear linkage specificity gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11720721 OTULIN OTU deubiquitinase with linear linkage specificity gene DOID:9006021 Immunodeficiency 107 ISO RGD:1602667 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection PMID:25741868|PMID:27559085|PMID:28492532|PMID:35587511 11720721 OTULIN OTU deubiquitinase with linear linkage specificity gene DOID:9006021 Immunodeficiency 107 susceptibility ISO RGD:1602667 D RGD:7240710 20230517 OMIM 11720721 OTULIN OTU deubiquitinase with linear linkage specificity gene DOID:9006590 Chondrocalcinosis 2 ISO RGD:1602667 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Chondrocalcinosis 2 PMID:11326272|PMID:19449425|PMID:25741868|PMID:2712793|PMID:28492532 11720739 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0050427 xeroderma pigmentosum ISO RGD:1316156 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:16199547|PMID:16550608|PMID:16947863|PMID:17576681|PMID:24728327|PMID:25741868|PMID:25910212|PMID:26023681|PMID:26556299|PMID:27004399|PMID:27153395|PMID:27356891|PMID:27655433|PMID:28259476|PMID:28423363|PMID:28492532|PMID:28873162|PMID:29478780|PMID:29625052|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30414346|PMID:30787465|PMID:31664448|PMID:31681265|PMID:31874108|PMID:32183364|PMID:32295625|PMID:32427313|PMID:32496904|PMID:33780288|PMID:9536098 11720739 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:1316156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:28492532 11720739 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0110850 xeroderma pigmentosum group B ISO RGD:1316156 D RGD:7240710 20180130 OMIM 11720739 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0110850 xeroderma pigmentosum group B ISO RGD:1316156 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum group B PMID:16947863|PMID:2167179|PMID:24728327|PMID:25741868|PMID:26023681|PMID:26467025|PMID:26556299|PMID:26884178|PMID:27004399|PMID:27153395|PMID:27356891|PMID:27655433|PMID:28259476|PMID:28423363|PMID:28492532|PMID:28873162|PMID:29376097|PMID:29478780|PMID:29625052|PMID:30256826|PMID:30306255|PMID:30414346|PMID:30787465|PMID:31541171|PMID:31664448|PMID:31681265|PMID:31874108|PMID:32183364|PMID:32295625|PMID:32496904|PMID:4811796|PMID:8304337|PMID:8408834|PMID:8663148 11720739 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0111220 centronuclear myopathy 2 ISO RGD:1316156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:28492532 11720739 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0111866 trichothiodystrophy ISO RGD:1316156 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.T119P (human) PMID:9012405|REF_RGD_ID:13207496 11720739 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0111869 photosensitive trichothiodystrophy 2 ISO RGD:1316156 D RGD:7240710 20180130 OMIM 11720739 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0111869 photosensitive trichothiodystrophy 2 ISO RGD:1316156 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 2, photosensitive PMID:24728327|PMID:25741868|PMID:27153395|PMID:28259476|PMID:28492532|PMID:30306255|PMID:30414346|PMID:31664448|PMID:31874108|PMID:32295625|PMID:9012405 11720739 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1316156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 11720739 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:10652 Alzheimer's disease ISO RGD:1316156 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:9714461|REF_RGD_ID:5688738 11720739 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:11088 asphyxia neonatorum ISO RGD:1307139 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:9763211|REF_RGD_ID:2302855 11720739 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:14250 Down syndrome ISO RGD:1316156 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (human) PMID:10328528|REF_RGD_ID:13207452 11720739 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:2394 ovarian cancer ISO RGD:1316156 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 11720739 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:2962 Cockayne syndrome ISO RGD:1318736 D RGD:9068941 20200609 RGD PMID:19114557|REF_RGD_ID:10401087 11720739 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1316156 D RGD:9068941 20200609 RGD DNA:snp:intron:c.2064+741T>C (rs3738948) (human) PMID:25069034|REF_RGD_ID:11098167 11720739 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:574 peripheral nervous system disease ISO RGD:1316156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 11720739 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:630 genetic disease ISO RGD:1316156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16550608|PMID:16947863|PMID:24728327|PMID:25741868|PMID:25910212|PMID:26884178|PMID:28492532|PMID:29376097 11720739 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:9005172 Lung Neoplasms susceptibility ISO RGD:1316156 D RGD:9068941 20200609 RGD DNA:snps, haplotype:introns:c.43-61A>G, c.1151-2708A>G, (rs2271026, rs4150441) (human) PMID:16835333|REF_RGD_ID:13207447 11720739 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:9007964 Arsenic Poisoning ISO RGD:1316156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12569548 11720739 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:9256 colorectal cancer ISO RGD:1316156 D RGD:9068941 20221006 RGD mRNA:increased expression:colorectum (human) PMID:16951227|REF_RGD_ID:155260343 11720762 BBC3 BCL2 binding component 3 gene DOID:224 transient cerebral ischemia ISO RGD:631434 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus CA1, pyramidal cell PMID:12913114|REF_RGD_ID:634629 11720762 BBC3 BCL2 binding component 3 gene DOID:2316 brain ischemia ISO RGD:735389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19095966 11720762 BBC3 BCL2 binding component 3 gene DOID:3669 intermittent claudication ISO RGD:631434 D RGD:9068941 20200609 RGD PMID:23658678|REF_RGD_ID:9586024 11720762 BBC3 BCL2 binding component 3 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:735389 D RGD:9068941 20210903 RGD human cells in mouse model PMID:23632475|REF_RGD_ID:150404268 11720762 BBC3 BCL2 binding component 3 gene DOID:630 genetic disease ISO RGD:735389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720762 BBC3 BCL2 binding component 3 gene DOID:8584 Burkitt lymphoma ISO RGD:735389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18573879 11720762 BBC3 BCL2 binding component 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:735389 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16481741 11720762 BBC3 BCL2 binding component 3 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:735389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 11720774 NEUROG1 neurogenin 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1352814 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11720774 NEUROG1 neurogenin 1 gene DOID:630 genetic disease ISO RGD:1352814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720774 NEUROG1 neurogenin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11720774 NEUROG1 neurogenin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 11720774 NEUROG1 neurogenin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352814 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11720797 KANK2 KN motif and ankyrin repeat domains 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1352192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11720797 KANK2 KN motif and ankyrin repeat domains 2 gene DOID:0080272 nephrotic syndrome type 16 ISO RGD:1352192 D RGD:7240710 20190315 OMIM 11720797 KANK2 KN motif and ankyrin repeat domains 2 gene DOID:0080272 nephrotic syndrome type 16 ISO RGD:1352192 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 16 PMID:25741868|PMID:25961457|PMID:28492532 11720797 KANK2 KN motif and ankyrin repeat domains 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1352192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11720797 KANK2 KN motif and ankyrin repeat domains 2 gene DOID:0111254 glutaric acidemia I ISO RGD:1352192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11720797 KANK2 KN motif and ankyrin repeat domains 2 gene DOID:3413 alpha-mannosidosis ISO RGD:1352192 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11720797 KANK2 KN motif and ankyrin repeat domains 2 gene DOID:630 genetic disease ISO RGD:1352192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11720797 KANK2 KN motif and ankyrin repeat domains 2 gene DOID:9005974 PALMOPLANTAR KERATODERMA AND WOOLLY HAIR ISO RGD:1352192 D RGD:7240710 20180130 OMIM 11720797 KANK2 KN motif and ankyrin repeat domains 2 gene DOID:9005974 PALMOPLANTAR KERATODERMA AND WOOLLY HAIR ISO RGD:1352192 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma and woolly hair PMID:24671081|PMID:25741868|PMID:28492532 11720797 KANK2 KN motif and ankyrin repeat domains 2 gene DOID:9775 diastolic heart failure ISO RGD:1352192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 11720833 AQP3 aquaporin 3 (Gill blood group) gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:68638 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11720833 AQP3 aquaporin 3 (Gill blood group) gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:68638 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11720833 AQP3 aquaporin 3 (Gill blood group) gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:68638 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11720833 AQP3 aquaporin 3 (Gill blood group) gene DOID:11054 urinary bladder cancer ISO RGD:68638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22306368 11720833 AQP3 aquaporin 3 (Gill blood group) gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:68639 D RGD:9068941 20220825 MouseDO OMIM:125800 | OMIM:304800 11720833 AQP3 aquaporin 3 (Gill blood group) gene DOID:1459 hypothyroidism ISO RGD:68428 D RGD:9068941 20200609 RGD PMID:12595491|REF_RGD_ID:704374 11720833 AQP3 aquaporin 3 (Gill blood group) gene DOID:1749 squamous cell carcinoma ISO RGD:68638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 11720833 AQP3 aquaporin 3 (Gill blood group) gene DOID:2316 brain ischemia ISO RGD:68428 D RGD:9068941 20200609 RGD PMID:19616516|REF_RGD_ID:5490152 11720833 AQP3 aquaporin 3 (Gill blood group) gene DOID:630 genetic disease ISO RGD:68638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720833 AQP3 aquaporin 3 (Gill blood group) gene DOID:9000081 Lymphatic Metastasis ISO RGD:68638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 11720833 AQP3 aquaporin 3 (Gill blood group) gene DOID:9000117 Esophageal Neoplasms ISO RGD:68638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 11720833 AQP3 aquaporin 3 (Gill blood group) gene DOID:9002762 Ovarian Neoplasms ISO RGD:68638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18214481 11720833 AQP3 aquaporin 3 (Gill blood group) gene DOID:9004464 Skin Neoplasms ISO RGD:68638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 11720833 AQP3 aquaporin 3 (Gill blood group) gene DOID:9005873 Tongue Neoplasms ISO RGD:68638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 11720833 AQP3 aquaporin 3 (Gill blood group) gene DOID:9562 primary ciliary dyskinesia ISO RGD:68638 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11720833 AQP3 aquaporin 3 (Gill blood group) gene DOID:9870 galactosemia ISO RGD:68638 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11720843 VPS26C VPS26 endosomal protein sorting factor C gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1315747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11720843 VPS26C VPS26 endosomal protein sorting factor C gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1315747 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11720843 VPS26C VPS26 endosomal protein sorting factor C gene DOID:1826 epilepsy ISO RGD:1315747 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11720843 VPS26C VPS26 endosomal protein sorting factor C gene DOID:630 genetic disease ISO RGD:1315747 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720855 CENPB centromere protein B gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1312443 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11720855 CENPB centromere protein B gene DOID:12236 primary biliary cholangitis ISO RGD:1312443 D RGD:9068941 20200609 RGD PMID:8911074|REF_RGD_ID:27226708 11720855 CENPB centromere protein B gene DOID:2952 inner ear disease ISO RGD:1312443 D RGD:9068941 20200609 RGD associated with limited scleroderma PMID:18520322|REF_RGD_ID:27226707 11720855 CENPB centromere protein B gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1312443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11720855 CENPB centromere protein B gene DOID:630 genetic disease ISO RGD:1312443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720855 CENPB centromere protein B gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1312443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 11720859 C3H3orf80 chromosome 3 C3orf80 homolog gene DOID:630 genetic disease ISO RGD:5486719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720870 LIN7A lin-7 homolog A, crumbs cell polarity complex component gene DOID:305 carcinoma ISO RGD:731642 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11720870 LIN7A lin-7 homolog A, crumbs cell polarity complex component gene DOID:630 genetic disease ISO RGD:731642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720870 LIN7A lin-7 homolog A, crumbs cell polarity complex component gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731642 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11720870 LIN7A lin-7 homolog A, crumbs cell polarity complex component gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731642 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11720870 LIN7A lin-7 homolog A, crumbs cell polarity complex component gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731642 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11720880 ATP10D ATPase phospholipid transporting 10D (putative) gene DOID:630 genetic disease ISO RGD:1316047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720880 ATP10D ATPase phospholipid transporting 10D (putative) gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11720918 ZDHHC16 zinc finger DHHC-type palmitoyltransferase 16 gene DOID:630 genetic disease ISO RGD:1604262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720959 GJA4 gap junction protein alpha 4 gene DOID:0001816 angiosarcoma ISO RGD:731518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 11720959 GJA4 gap junction protein alpha 4 gene DOID:0050792 multiple cutaneous and mucosal venous malformations ISO RGD:731518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous venous malformation PMID:33912852 11720959 GJA4 gap junction protein alpha 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:731518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11720959 GJA4 gap junction protein alpha 4 gene DOID:10763 hypertension ISO RGD:731518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16448880 11720959 GJA4 gap junction protein alpha 4 gene DOID:271 hemangioma of liver ISO RGD:731518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatic hemangioma PMID:33912852 11720959 GJA4 gap junction protein alpha 4 gene DOID:3393 coronary artery disease ISO RGD:731518 D RGD:9068941 20200609 RGD DNA:SNP:CDS:1019C>T, amino acid P319S, in men both with and without Diabetes Mellitus, Type 2 (MeSH:D003924) PMID:15059615|REF_RGD_ID:1626412 11720959 GJA4 gap junction protein alpha 4 gene DOID:3393 coronary artery disease ISO RGD:731518 D RGD:9068941 20200609 RGD DNA:SNP:CDS:C allele of 1019C>T, amino acid P319S in men only (p = 0.0047) in a Swiss population PMID:16677656|REF_RGD_ID:1626615 11720959 GJA4 gap junction protein alpha 4 gene DOID:471 skin hemangioma ISO RGD:731518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skin hemangioma PMID:33912852 11720959 GJA4 gap junction protein alpha 4 gene DOID:5199 ureteral obstruction ISO RGD:2691 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney: PMID:12644912|REF_RGD_ID:7207847 11720959 GJA4 gap junction protein alpha 4 gene DOID:5844 myocardial infarction ISO RGD:731518 D RGD:9068941 20200609 RGD PMID:15982495|REF_RGD_ID:1580400 11720959 GJA4 gap junction protein alpha 4 gene DOID:5844 myocardial infarction ISO RGD:731518 D RGD:9068941 20200609 RGD DNA:SNP:CDS:T allele of 1019C>T in Japanese men (p<0.001) PMID:12477941|REF_RGD_ID:1626626 11720959 GJA4 gap junction protein alpha 4 gene DOID:5844 myocardial infarction ISO RGD:731518 D RGD:9068941 20200609 RGD associated with coronary artery disease; DNA:SNP:CDS:C allele of 1019C>T, amino acid P319S (p = 0.0026) in a Swiss population PMID:16677656|REF_RGD_ID:1626615 11720959 GJA4 gap junction protein alpha 4 gene DOID:630 genetic disease ISO RGD:731518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720959 GJA4 gap junction protein alpha 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11720971 AKAP13 A-kinase anchoring protein 13 gene DOID:2717 Bloom syndrome ISO RGD:736118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11720971 AKAP13 A-kinase anchoring protein 13 gene DOID:4450 renal cell carcinoma ISO RGD:736118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 11720971 AKAP13 A-kinase anchoring protein 13 gene DOID:630 genetic disease ISO RGD:736118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11720971 AKAP13 A-kinase anchoring protein 13 gene DOID:9000117 Esophageal Neoplasms ISO RGD:736118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17068819 11720971 AKAP13 A-kinase anchoring protein 13 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28319090 11720971 AKAP13 A-kinase anchoring protein 13 gene DOID:9256 colorectal cancer ISO RGD:736118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11721025 AKAP6 A-kinase anchoring protein 6 gene DOID:0060224 atrial fibrillation ISO RGD:69458 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11721025 AKAP6 A-kinase anchoring protein 6 gene DOID:1059 intellectual disability ISO RGD:69458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11721025 AKAP6 A-kinase anchoring protein 6 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1550845 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:14511675|REF_RGD_ID:14349026 11721025 AKAP6 A-kinase anchoring protein 6 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1550845 D RGD:9068941 20200609 RGD PMID:24812305|REF_RGD_ID:11251930 11721025 AKAP6 A-kinase anchoring protein 6 gene DOID:2152 ovary epithelial cancer susceptibility ISO RGD:69458 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1955513,rs927062(human) PMID:29979793|REF_RGD_ID:14348955 11721025 AKAP6 A-kinase anchoring protein 6 gene DOID:6000 congestive heart failure ISO RGD:1550845 D RGD:9068941 20200609 RGD PMID:24812305|REF_RGD_ID:11251930 11721025 AKAP6 A-kinase anchoring protein 6 gene DOID:630 genetic disease ISO RGD:69458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11721025 AKAP6 A-kinase anchoring protein 6 gene DOID:8689 anorexia nervosa susceptibility ISO RGD:69458 D RGD:9068941 20200609 RGD DNA:SNP: :rs2383378(human) PMID:21079607|REF_RGD_ID:14349024 11721025 AKAP6 A-kinase anchoring protein 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:69458 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11721056 PABPC4 poly(A) binding protein cytoplasmic 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11721056 PABPC4 poly(A) binding protein cytoplasmic 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1312792 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11721056 PABPC4 poly(A) binding protein cytoplasmic 4 gene DOID:630 genetic disease ISO RGD:1312792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11721056 PABPC4 poly(A) binding protein cytoplasmic 4 gene DOID:9006205 Animal Disease Models ISO RGD:1312792 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11721088 LOC100993555 olfactory receptor 4C15 gene DOID:1059 intellectual disability ISO RGD:1352775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11721088 LOC100993555 olfactory receptor 4C15 gene DOID:630 genetic disease ISO RGD:1352775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11721096 HYCC1 hyccin PI4KA lipid kinase complex subunit 1 gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:1606763 D RGD:7240710 20180130 OMIM 11721096 HYCC1 hyccin PI4KA lipid kinase complex subunit 1 gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:1606763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract PMID:16199547|PMID:16951682|PMID:17576681|PMID:17928815|PMID:18022865|PMID:20301737|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:25741868|PMID:28492532|PMID:9536098 11721096 HYCC1 hyccin PI4KA lipid kinase complex subunit 1 gene DOID:1059 intellectual disability ISO RGD:1606763 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11721096 HYCC1 hyccin PI4KA lipid kinase complex subunit 1 gene DOID:303 substance-related disorder ISO RGD:1606763 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11721096 HYCC1 hyccin PI4KA lipid kinase complex subunit 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11721096 HYCC1 hyccin PI4KA lipid kinase complex subunit 1 gene DOID:630 genetic disease ISO RGD:1606763 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11721096 HYCC1 hyccin PI4KA lipid kinase complex subunit 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1606763 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 11721119 COQ5 coenzyme Q5, methyltransferase gene DOID:0080600 COVID-19 ISO RGD:1604266 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11721119 COQ5 coenzyme Q5, methyltransferase gene DOID:0112138 primary coenzyme Q10 deficiency 9 ISO RGD:1604266 D RGD:7240710 20200930 OMIM 11721119 COQ5 coenzyme Q5, methyltransferase gene DOID:0112138 primary coenzyme Q10 deficiency 9 ISO RGD:1604266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coenzyme q10 deficiency, primary, 9 PMID:29044765 11721119 COQ5 coenzyme Q5, methyltransferase gene DOID:1059 intellectual disability ISO RGD:1604266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11721119 COQ5 coenzyme Q5, methyltransferase gene DOID:630 genetic disease ISO RGD:1604266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11721182 ASMT acetylserotonin O-methyltransferase gene DOID:12849 autistic disorder ISO RGD:1353638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11721182 ASMT acetylserotonin O-methyltransferase gene DOID:893 Wilson disease ISO RGD:1353638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 11721196 TMEM187 transmembrane protein 187 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1354491 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11721196 TMEM187 transmembrane protein 187 gene DOID:0050476 Barth syndrome ISO RGD:1354491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11721196 TMEM187 transmembrane protein 187 gene DOID:0050800 creatine transporter deficiency ISO RGD:1354491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 11721196 TMEM187 transmembrane protein 187 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 11721196 TMEM187 transmembrane protein 187 gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1354491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 11721196 TMEM187 transmembrane protein 187 gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1354491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 11721196 TMEM187 transmembrane protein 187 gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1354491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 11721196 TMEM187 transmembrane protein 187 gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1354491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 11721196 TMEM187 transmembrane protein 187 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1354491 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 11721196 TMEM187 transmembrane protein 187 gene DOID:0112003 immunodeficiency 33 ISO RGD:1354491 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11721196 TMEM187 transmembrane protein 187 gene DOID:10588 adrenoleukodystrophy ISO RGD:1354491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11721196 TMEM187 transmembrane protein 187 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1354491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11721196 TMEM187 transmembrane protein 187 gene DOID:12849 autistic disorder ISO RGD:1354491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11721196 TMEM187 transmembrane protein 187 gene DOID:13628 favism ISO RGD:1354491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11721196 TMEM187 transmembrane protein 187 gene DOID:2729 dyskeratosis congenita ISO RGD:1354491 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11721196 TMEM187 transmembrane protein 187 gene DOID:607 paraplegia ISO RGD:1354491 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11721196 TMEM187 transmembrane protein 187 gene DOID:630 genetic disease ISO RGD:1354491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11721196 TMEM187 transmembrane protein 187 gene DOID:9002720 Splenomegaly ISO RGD:1354491 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11721196 TMEM187 transmembrane protein 187 gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1354491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:15689435|PMID:16080119|PMID:28492532 11721196 TMEM187 transmembrane protein 187 gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1354491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 11721203 TMEM215 transmembrane protein 215 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1601903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11721203 TMEM215 transmembrane protein 215 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1601903 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11721203 TMEM215 transmembrane protein 215 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1601903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11721203 TMEM215 transmembrane protein 215 gene DOID:630 genetic disease ISO RGD:1601903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11721203 TMEM215 transmembrane protein 215 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1601903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11721203 TMEM215 transmembrane protein 215 gene DOID:9870 galactosemia ISO RGD:1601903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11721214 LMNB2 lamin B2 gene DOID:0080299 partial lipodystrophy ISO RGD:1345535 D RGD:7240710 20230517 OMIM 11721214 LMNB2 lamin B2 gene DOID:0080299 partial lipodystrophy ISO RGD:1345535 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: APLD, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Acquired partial lipodystrophy PMID:16826530|PMID:22768673|PMID:22995991|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28492532 11721214 LMNB2 lamin B2 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1345535 D RGD:7240710 20230517 OMIM 11721214 LMNB2 lamin B2 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1345535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:16826530|PMID:17576681|PMID:22768673|PMID:22995991|PMID:25741868|PMID:25954030|PMID:26467025|PMID:27535533|PMID:28166811|PMID:28492532|PMID:32041611|PMID:9536098 11721214 LMNB2 lamin B2 gene DOID:630 genetic disease ISO RGD:1345535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 11721214 LMNB2 lamin B2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1345535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11721214 LMNB2 lamin B2 gene DOID:9002951 Primary Autosomal Recessive Microcephaly 27 ISO RGD:1345535 D RGD:7240710 20230517 OMIM 11721214 LMNB2 lamin B2 gene DOID:9002951 Primary Autosomal Recessive Microcephaly 27 ISO RGD:1345535 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 27, primary, autosomal dominant PMID:33033404 11721214 LMNB2 lamin B2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345535 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11721214 LMNB2 lamin B2 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1345535 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized myoclonic seizures PMID:28492532 11721230 MPI mannose phosphate isomerase gene DOID:0080554 congenital disorder of glycosylation Ib ISO RGD:1349436 D RGD:7240710 20180130 OMIM 11721230 MPI mannose phosphate isomerase gene DOID:0080554 congenital disorder of glycosylation Ib ISO RGD:1349436 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CDG gastrointestinal type | ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome type 1B | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1B | ClinVar Annotator: match by term: MPI deficiency | ClinVar Annotator: match by term: Saguenay Lac Saint Jean syndrome PMID:10484808|PMID:10980531|PMID:11134235|PMID:11350186|PMID:12414827|PMID:16199547|PMID:17576681|PMID:18928705|PMID:19862844|PMID:24033266|PMID:24421398|PMID:24474243|PMID:24508628|PMID:25741868|PMID:26206375|PMID:28139241|PMID:28492532|PMID:28928705|PMID:30545931|PMID:3080572|PMID:32905087|PMID:9525984|PMID:9536098|PMID:9585601 11721230 MPI mannose phosphate isomerase gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1349436 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 1 PMID:19862844|PMID:25741868|PMID:28492532 11721230 MPI mannose phosphate isomerase gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1349436 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11721230 MPI mannose phosphate isomerase gene DOID:2717 Bloom syndrome ISO RGD:1349436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11721230 MPI mannose phosphate isomerase gene DOID:2978 carbohydrate metabolic disorder ISO RGD:1349436 D RGD:9068941 20200609 RGD CDG Ib, OMIM:602579, DNA:point mutation:exon:R219Q , insertion:exon:116insC PMID:9525984|REF_RGD_ID:1600452 11721230 MPI mannose phosphate isomerase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1349436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 11721230 MPI mannose phosphate isomerase gene DOID:5419 schizophrenia ISO RGD:1349436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11721230 MPI mannose phosphate isomerase gene DOID:630 genetic disease ISO RGD:1349436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11721230 MPI mannose phosphate isomerase gene DOID:9256 colorectal cancer ISO RGD:1349436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11721248 PLIN2 perilipin 2 gene DOID:630 genetic disease ISO RGD:730882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11721248 PLIN2 perilipin 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:730882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11721248 PLIN2 perilipin 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11721248 PLIN2 perilipin 2 gene DOID:9006599 Hypertriglyceridemia ISO RGD:730883 D RGD:9068941 20200609 RGD associated with Obesity PMID:17484887|REF_RGD_ID:1625752 11721248 PLIN2 perilipin 2 gene DOID:9007692 Insulin Resistance ISO RGD:730883 D RGD:9068941 20200609 RGD associated with Obesity PMID:17484887|REF_RGD_ID:1625752 11721248 PLIN2 perilipin 2 gene DOID:9452 fatty liver disease ISO RGD:730882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16439473 11721248 PLIN2 perilipin 2 gene DOID:9452 fatty liver disease ISO RGD:730883 D RGD:9068941 20200609 RGD associated with Obesity PMID:17484887|REF_RGD_ID:1625752 11721276 NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1320645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11721276 NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1320645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11721276 NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:0081007 RNASET2-deficient cystic leukoencephalopathy ISO RGD:1320645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystic Leukoencephalopathy PMID:25741868|PMID:27159321|PMID:28857146 11721276 NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1320645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 11721276 NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:0112076 nuclear type mitochondrial complex I deficiency 13 ISO RGD:1320645 D RGD:7240710 20190315 OMIM 11721276 NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:0112076 nuclear type mitochondrial complex I deficiency 13 ISO RGD:1320645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13 PMID:18513682|PMID:25741868|PMID:27159321|PMID:28857146|PMID:32154054 11721276 NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:10652 Alzheimer's disease ISO RGD:1320645 D RGD:9068941 20200609 RGD PMID:28474567|REF_RGD_ID:13792588 11721276 NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:3652 Leigh disease ISO RGD:1320645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:28492532 11721276 NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:630 genetic disease ISO RGD:1320645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11721276 NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1320645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11721276 NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:9000918 Disease Progression ISO RGD:1320645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11721276 NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11721276 NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 11721276 NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11721294 MFSD12 major facilitator superfamily domain containing 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11721315 H3-4 H3.4 histone, cluster member gene DOID:10316 pneumoconiosis ISO RGD:1317808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 11721315 H3-4 H3.4 histone, cluster member gene DOID:1059 intellectual disability ISO RGD:1317808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11721315 H3-4 H3.4 histone, cluster member gene DOID:1540 parathyroid carcinoma ISO RGD:1317808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11721315 H3-4 H3.4 histone, cluster member gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11721341 TTC27 tetratricopeptide repeat domain 27 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1604350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:25065914|PMID:25741868 11721341 TTC27 tetratricopeptide repeat domain 27 gene DOID:607 paraplegia ISO RGD:1604350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 11721341 TTC27 tetratricopeptide repeat domain 27 gene DOID:630 genetic disease ISO RGD:1604350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11721366 GSDMD gasdermin D gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1316349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11721366 GSDMD gasdermin D gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1316349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11721366 GSDMD gasdermin D gene DOID:4621 holoprosencephaly ISO RGD:1316349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11721366 GSDMD gasdermin D gene DOID:630 genetic disease ISO RGD:1316349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11721407 CATSPER4 cation channel sperm associated 4 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1350186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 11721407 CATSPER4 cation channel sperm associated 4 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1350186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 11721407 CATSPER4 cation channel sperm associated 4 gene DOID:630 genetic disease ISO RGD:1350186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11721421 PCED1B PC-esterase domain containing 1B gene DOID:630 genetic disease ISO RGD:1602665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11721426 NGDN neuroguidin gene DOID:0060439 lysinuric protein intolerance ISO RGD:1320980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11721426 NGDN neuroguidin gene DOID:630 genetic disease ISO RGD:1320980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11721426 NGDN neuroguidin gene DOID:9000265 Specific Granule Deficiency ISO RGD:1320980 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11721426 NGDN neuroguidin gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1320980 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11721441 N4BP2 NEDD4 binding protein 2 gene DOID:630 genetic disease ISO RGD:1603992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11721441 N4BP2 NEDD4 binding protein 2 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1603992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 11721477 CENPJ centromere protein J gene DOID:0050453 lissencephaly ISO RGD:1321379 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:16900296|PMID:20301772|PMID:25741868 11721477 CENPJ centromere protein J gene DOID:0050569 Seckel syndrome ISO RGD:1321379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seckel syndrome PMID:18414213|PMID:25741868|PMID:28492532 11721477 CENPJ centromere protein J gene DOID:0070007 Seckel syndrome 1 ISO RGD:1321379 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seckel syndrome 1 PMID:18414213|PMID:20301772|PMID:20978018|PMID:25741868|PMID:28492532 11721477 CENPJ centromere protein J gene DOID:0070010 Seckel syndrome 4 ISO RGD:1321379 D RGD:7240710 20180130 OMIM 11721477 CENPJ centromere protein J gene DOID:0070010 Seckel syndrome 4 ISO RGD:1321379 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seckel syndrome 4 PMID:18414213|PMID:20301772|PMID:20522431|PMID:20978018|PMID:24033266|PMID:24402816|PMID:25741868|PMID:26467025|PMID:26752647|PMID:28492532 11721477 CENPJ centromere protein J gene DOID:0070012 Seckel syndrome 5 ISO RGD:1321379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seckel syndrome 5 11721477 CENPJ centromere protein J gene DOID:0070285 primary autosomal recessive microcephaly 1 ISO RGD:1321379 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:12843329|PMID:15793586|PMID:20301772|PMID:22775483|PMID:25741868 11721477 CENPJ centromere protein J gene DOID:0070290 primary autosomal recessive microcephaly 6 ISO RGD:1321379 D RGD:7240710 20180130 OMIM 11721477 CENPJ centromere protein J gene DOID:0070290 primary autosomal recessive microcephaly 6 ISO RGD:1321379 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly 6, primary, autosomal recessive PMID:12843329|PMID:15793586|PMID:16900296|PMID:18414213|PMID:20301772|PMID:20522431|PMID:20978018|PMID:22775483|PMID:24402816|PMID:25741868|PMID:26467025|PMID:26752647|PMID:28492532|PMID:32549991 11721477 CENPJ centromere protein J gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:1321379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive primary microcephaly PMID:18414213|PMID:24033266 11721477 CENPJ centromere protein J gene DOID:1059 intellectual disability ISO RGD:1321379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability, moderate PMID:15793586|PMID:16900296|PMID:20522431|PMID:25741868|PMID:28492532|PMID:32549991 11721477 CENPJ centromere protein J gene DOID:10907 microcephaly ISO RGD:1321379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary Microcephaly, Recessive PMID:18414213|PMID:25741868|PMID:28492532 11721477 CENPJ centromere protein J gene DOID:630 genetic disease ISO RGD:1321379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 11721498 PRSS38 serine protease 38 gene DOID:1540 parathyroid carcinoma ISO RGD:1606403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11721498 PRSS38 serine protease 38 gene DOID:630 genetic disease ISO RGD:1606403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11721498 PRSS38 serine protease 38 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11721507 MAPK11 mitogen-activated protein kinase 11 gene DOID:0050700 cardiomyopathy ISO RGD:1319634 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10620750 11721507 MAPK11 mitogen-activated protein kinase 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1319634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 11721507 MAPK11 mitogen-activated protein kinase 11 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1319634 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 11721507 MAPK11 mitogen-activated protein kinase 11 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1319634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11721507 MAPK11 mitogen-activated protein kinase 11 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1319634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 11721507 MAPK11 mitogen-activated protein kinase 11 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1319634 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 11721507 MAPK11 mitogen-activated protein kinase 11 gene DOID:1059 intellectual disability ISO RGD:1319634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11721507 MAPK11 mitogen-activated protein kinase 11 gene DOID:630 genetic disease ISO RGD:1319634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11721522 ANKRD17 ankyrin repeat domain 17 gene DOID:1059 intellectual disability ISO RGD:1607057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:33909992 11721522 ANKRD17 ankyrin repeat domain 17 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1607057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:28580594 11721522 ANKRD17 ankyrin repeat domain 17 gene DOID:630 genetic disease ISO RGD:1607057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11721522 ANKRD17 ankyrin repeat domain 17 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1607057 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11721522 ANKRD17 ankyrin repeat domain 17 gene DOID:9002816 CHOPRA-AMIEL-GORDON SYNDROME ISO RGD:1607057 D RGD:7240710 20211020 OMIM 11721522 ANKRD17 ankyrin repeat domain 17 gene DOID:9002816 CHOPRA-AMIEL-GORDON SYNDROME ISO RGD:1607057 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chopra-Amiel-Gordon syndrome PMID:25741868|PMID:29758562|PMID:33909992 11721522 ANKRD17 ankyrin repeat domain 17 gene DOID:9005466 Language Development Disorders ISO RGD:1607057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Speech delay PMID:25741868 11721522 ANKRD17 ankyrin repeat domain 17 gene DOID:9007567 Ritscher-Schinzel Syndrome 4 ISO RGD:1607057 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 4 PMID:25741868 11721522 ANKRD17 ankyrin repeat domain 17 gene DOID:9266 cystinuria ISO RGD:1607057 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cystinuria PMID:25741868 11721543 LOC100981494 histone H2B type 1-J gene DOID:630 genetic disease ISO RGD:1348596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11721555 SPACA3 sperm acrosome associated 3 gene DOID:630 genetic disease ISO RGD:1315441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11721564 DYNLT1 dynein light chain Tctex-type 1 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:732244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 11721564 DYNLT1 dynein light chain Tctex-type 1 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:732244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 11721564 DYNLT1 dynein light chain Tctex-type 1 gene DOID:630 genetic disease ISO RGD:732244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11721577 DECR1 2,4-dienoyl-CoA reductase 1 gene DOID:3146 lipid metabolism disorder ISO RGD:733605 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2332510 11721577 DECR1 2,4-dienoyl-CoA reductase 1 gene DOID:630 genetic disease ISO RGD:733605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11721577 DECR1 2,4-dienoyl-CoA reductase 1 gene DOID:7400 Nijmegen breakage syndrome ISO RGD:733605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency PMID:28492532 11721577 DECR1 2,4-dienoyl-CoA reductase 1 gene DOID:9005948 2,4-Dienoyl-CoA Reductase Deficiency ISO RGD:733605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 2,4-Dienoyl-CoA reductase deficiency PMID:25741868|PMID:28492532 11721591 SLC1A7 solute carrier family 1 member 7 gene DOID:0080600 COVID-19 ISO RGD:1323639 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11721591 SLC1A7 solute carrier family 1 member 7 gene DOID:630 genetic disease ISO RGD:1323639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11721616 LOC100985779 histone H2A type 2-B gene DOID:1540 parathyroid carcinoma ISO RGD:1350646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11721616 LOC100985779 histone H2A type 2-B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11721621 PARP14 poly(ADP-ribose) polymerase family member 14 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1344897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 11721621 PARP14 poly(ADP-ribose) polymerase family member 14 gene DOID:630 genetic disease ISO RGD:1344897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11721621 PARP14 poly(ADP-ribose) polymerase family member 14 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1344897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 11721621 PARP14 poly(ADP-ribose) polymerase family member 14 gene DOID:9270 alkaptonuria ISO RGD:1344897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11721642 S100A16 S100 calcium binding protein A16 gene DOID:0111940 immunodeficiency 42 ISO RGD:1315577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11721642 S100A16 S100 calcium binding protein A16 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1315577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11721642 S100A16 S100 calcium binding protein A16 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1315577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11721642 S100A16 S100 calcium binding protein A16 gene DOID:1540 parathyroid carcinoma ISO RGD:1315577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11721642 S100A16 S100 calcium binding protein A16 gene DOID:5812 MHC class II deficiency ISO RGD:1315577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11721642 S100A16 S100 calcium binding protein A16 gene DOID:630 genetic disease ISO RGD:1315577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11721642 S100A16 S100 calcium binding protein A16 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11721656 RALGAPB Ral GTPase activating protein non-catalytic subunit beta gene DOID:0060857 septooptic dysplasia ISO RGD:1603624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence PMID:25741868 11721656 RALGAPB Ral GTPase activating protein non-catalytic subunit beta gene DOID:1059 intellectual disability ISO RGD:1603624 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intellectual disability 11721656 RALGAPB Ral GTPase activating protein non-catalytic subunit beta gene DOID:2234 focal epilepsy ISO RGD:1603624 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11721656 RALGAPB Ral GTPase activating protein non-catalytic subunit beta gene DOID:630 genetic disease ISO RGD:1603624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11721656 RALGAPB Ral GTPase activating protein non-catalytic subunit beta gene DOID:9002189 High Myopia ISO RGD:1603624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11721656 RALGAPB Ral GTPase activating protein non-catalytic subunit beta gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1603624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11721656 RALGAPB Ral GTPase activating protein non-catalytic subunit beta gene DOID:9008582 Developmental Disease ISO RGD:1603624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11721702 FLYWCH1 FLYWCH-type zinc finger 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1346259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11721702 FLYWCH1 FLYWCH-type zinc finger 1 gene DOID:1826 epilepsy ISO RGD:1346259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11721702 FLYWCH1 FLYWCH-type zinc finger 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1346259 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11721702 FLYWCH1 FLYWCH-type zinc finger 1 gene DOID:630 genetic disease ISO RGD:1346259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11721732 PBX2 PBX homeobox 2 gene DOID:0050553 JMP syndrome ISO RGD:1350680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11721732 PBX2 PBX homeobox 2 gene DOID:630 genetic disease ISO RGD:1350680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11721745 PLEK pleckstrin gene DOID:11476 osteoporosis ISO RGD:1317946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 11721745 PLEK pleckstrin gene DOID:630 genetic disease ISO RGD:1317946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11721745 PLEK pleckstrin gene DOID:7148 rheumatoid arthritis ISO RGD:1317946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 11721745 PLEK pleckstrin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11721758 INTS11 integrator complex subunit 11 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1603031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11721758 INTS11 integrator complex subunit 11 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603031 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11721758 INTS11 integrator complex subunit 11 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1603031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11721758 INTS11 integrator complex subunit 11 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1603031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11721758 INTS11 integrator complex subunit 11 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1603031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11721758 INTS11 integrator complex subunit 11 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1603031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11721758 INTS11 integrator complex subunit 11 gene DOID:0111934 immunodeficiency 38 ISO RGD:1603031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11721758 INTS11 integrator complex subunit 11 gene DOID:0111935 immunodeficiency 16 ISO RGD:1603031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11721758 INTS11 integrator complex subunit 11 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11721758 INTS11 integrator complex subunit 11 gene DOID:630 genetic disease ISO RGD:1603031 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11721758 INTS11 integrator complex subunit 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11721758 INTS11 integrator complex subunit 11 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1603031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11721758 INTS11 integrator complex subunit 11 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1603031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11721789 PTPRM protein tyrosine phosphatase receptor type M gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1347501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11721789 PTPRM protein tyrosine phosphatase receptor type M gene DOID:1059 intellectual disability ISO RGD:1347501 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11721789 PTPRM protein tyrosine phosphatase receptor type M gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:1347501 D RGD:9068941 20220303 RGD protein:decreased expression:blood (human) PMID:32663515|REF_RGD_ID:151660329 11721789 PTPRM protein tyrosine phosphatase receptor type M gene DOID:5419 schizophrenia ISO RGD:1347501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11721789 PTPRM protein tyrosine phosphatase receptor type M gene DOID:630 genetic disease ISO RGD:1347501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11721860 RDH16 retinol dehydrogenase 16 gene DOID:630 genetic disease ISO RGD:1604846 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11721877 PKP4 plakophilin 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1317269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11721877 PKP4 plakophilin 4 gene DOID:630 genetic disease ISO RGD:1317269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11721928 MIER3 MIER family member 3 gene DOID:630 genetic disease ISO RGD:1605562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11721928 MIER3 MIER family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11721945 SLC6A5 solute carrier family 6 member 5 gene DOID:0060695 hyperekplexia ISO RGD:732915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperekplexia PMID:16884688|PMID:24033266|PMID:25741868|PMID:28492532 11721945 SLC6A5 solute carrier family 6 member 5 gene DOID:0060698 hyperekplexia 3 ISO RGD:732915 D RGD:7240710 20180130 OMIM 11721945 SLC6A5 solute carrier family 6 member 5 gene DOID:0060698 hyperekplexia 3 ISO RGD:732915 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyperekplexia 3 PMID:14622583|PMID:16199547|PMID:16751771|PMID:16884688|PMID:17576681|PMID:18707791|PMID:20301437|PMID:21515498|PMID:22114948|PMID:22700964|PMID:22753417|PMID:24033266|PMID:25640679|PMID:25741868|PMID:28492532|PMID:29859229|PMID:31370103|PMID:31604777|PMID:32714574|PMID:33310157|PMID:33794243|PMID:9536098 11721945 SLC6A5 solute carrier family 6 member 5 gene DOID:1059 intellectual disability ISO RGD:732915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11721945 SLC6A5 solute carrier family 6 member 5 gene DOID:13366 Stiff-Person syndrome ISO RGD:732915 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25480793 11721945 SLC6A5 solute carrier family 6 member 5 gene DOID:630 genetic disease ISO RGD:732915 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22700964|PMID:25741868|PMID:28492532|PMID:33794243 11721945 SLC6A5 solute carrier family 6 member 5 gene DOID:9004992 Apnea ISO RGD:732915 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25480793 11721945 SLC6A5 solute carrier family 6 member 5 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:12158665 D RGD:9068941 20211105 OMIA Hyperekplexia (Startle disease) PMID:21420493|PMID:30847549|PMID:33769611|PMID:6524730 11721945 SLC6A5 solute carrier family 6 member 5 gene DOID:936 brain disease ISO RGD:732915 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25480793 11721997 ZNF429 zinc finger protein 429 gene DOID:630 genetic disease ISO RGD:1349572 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11722005 ACBD5 acyl-CoA binding domain containing 5 gene DOID:0050572 cone-rod dystrophy ISO RGD:1319743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:28492532 11722005 ACBD5 acyl-CoA binding domain containing 5 gene DOID:0080946 retinal dystrophy with leukodystrophy ISO RGD:1319743 D RGD:7240710 20200819 OMIM 11722005 ACBD5 acyl-CoA binding domain containing 5 gene DOID:0080946 retinal dystrophy with leukodystrophy ISO RGD:1319743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy with leukodystrophy PMID:23105016|PMID:25741868|PMID:28492532 11722005 ACBD5 acyl-CoA binding domain containing 5 gene DOID:1588 thrombocytopenia ISO RGD:1319743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532 11722005 ACBD5 acyl-CoA binding domain containing 5 gene DOID:630 genetic disease ISO RGD:1319743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11722005 ACBD5 acyl-CoA binding domain containing 5 gene DOID:9003390 Thrombocytopenia 2 ISO RGD:1319743 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 2 PMID:25741868|PMID:28492532 11722005 ACBD5 acyl-CoA binding domain containing 5 gene DOID:9005280 Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities ISO RGD:1319743 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities PMID:25741868 11722005 ACBD5 acyl-CoA binding domain containing 5 gene DOID:906 peroxisomal disease ISO RGD:1319744 D RGD:9068941 20220825 MouseDO 11722051 GRB10 growth factor receptor bound protein 10 gene DOID:0080600 COVID-19 ISO RGD:1352618 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11722051 GRB10 growth factor receptor bound protein 10 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11722051 GRB10 growth factor receptor bound protein 10 gene DOID:630 genetic disease ISO RGD:1352618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11722105 DEPDC7 DEP domain containing 7 gene DOID:1059 intellectual disability ISO RGD:1602447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11722105 DEPDC7 DEP domain containing 7 gene DOID:12849 autistic disorder ISO RGD:1602447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 11722105 DEPDC7 DEP domain containing 7 gene DOID:630 genetic disease ISO RGD:1602447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11722105 DEPDC7 DEP domain containing 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11722121 KRT5 keratin 5 gene DOID:0060256 Dowling-Degos disease ISO RGD:1343872 D RGD:9068941 20221013 CTD CTD Direct Evidence: marker/mechanism 11722121 KRT5 keratin 5 gene DOID:0060735 epidermolysis bullosa simplex Dowling-Meara type ISO RGD:1553117 D RGD:9068941 20220825 MouseDO OMIM:131760 11722121 KRT5 keratin 5 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1343872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11722121 KRT5 keratin 5 gene DOID:0080511 epidermolysis bullosa simplex generalized type ISO RGD:1343872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type PMID:20199538|PMID:25741868|PMID:7520042|PMID:8807337 11722121 KRT5 keratin 5 gene DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation ISO RGD:1343872 D RGD:7240710 20180130 OMIM 11722121 KRT5 keratin 5 gene DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation ISO RGD:1343872 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with mottled pigmentation PMID:1049409|PMID:10494094|PMID:11167681|PMID:12925204|PMID:15324323|PMID:15647384|PMID:15982306|PMID:16098032|PMID:16601668|PMID:16882168|PMID:20030639|PMID:20055872|PMID:20108434|PMID:20301543|PMID:20923750|PMID:23889190|PMID:24104543|PMID:2476664|PMID:25741868|PMID:26743602|PMID:27730678|PMID:28492532|PMID:28561874|PMID:31001817|PMID:421361|PMID:6457621|PMID:8799157|PMID:9036937|PMID:9129237 11722121 KRT5 keratin 5 gene DOID:11054 urinary bladder cancer ISO RGD:727894 D RGD:9068941 20210312 RGD PMID:7507402|REF_RGD_ID:1600196 11722121 KRT5 keratin 5 gene DOID:2513 basal cell carcinoma ISO RGD:1343872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578363|PMID:20871598 11722121 KRT5 keratin 5 gene DOID:2730 epidermolysis bullosa ISO RGD:1343872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa PMID:25741868 11722121 KRT5 keratin 5 gene DOID:305 carcinoma ISO RGD:1343872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11722121 KRT5 keratin 5 gene DOID:4644 epidermolysis bullosa simplex ISO RGD:1343872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex PMID:1049409|PMID:10494094|PMID:11167681|PMID:11407988|PMID:11973334|PMID:12925204|PMID:15324323|PMID:15647384|PMID:15982306|PMID:16098032|PMID:16465624|PMID:16601668|PMID:16882168|PMID:17034543|PMID:17039244|PMID:1718160|PMID:17855059|PMID:18384561|PMID:20030639|PMID:20055872|PMID:20108434|PMID:20199538|PMID:20301543|PMID:20923750|PMID:21144712|PMID:21375516|PMID:21623745|PMID:23889190|PMID:24104543|PMID:2476664|PMID:25741868|PMID:26432462|PMID:26707537|PMID:26743602|PMID:27730678|PMID:28425111|PMID:28492532|PMID:28561874|PMID:31302245|PMID:31312705|PMID:421361|PMID:6457621|PMID:7682695|PMID:7686424|PMID:8595431|PMID:8799157|PMID:8807337|PMID:9036937|PMID:9129237 11722121 KRT5 keratin 5 gene DOID:4644 epidermolysis bullosa simplex susceptibility ISO RGD:1343872 D RGD:9068941 20200609 RGD DNA:mutation PMID:1372711|REF_RGD_ID:1600195 11722121 KRT5 keratin 5 gene DOID:630 genetic disease ISO RGD:1343872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11722121 KRT5 keratin 5 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1343872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11722121 KRT5 keratin 5 gene DOID:9000523 Generalized Epidermolysis Bullosa Simplex 1B ISO RGD:1343872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type PMID:20199538|PMID:25741868|PMID:7520042|PMID:8807337 11722121 KRT5 keratin 5 gene DOID:9000621 Generalized Epidermolysis Bullosa Simplex 2D ISO RGD:1343872 D RGD:7240710 20211110 OMIM 11722121 KRT5 keratin 5 gene DOID:9000621 Generalized Epidermolysis Bullosa Simplex 2D ISO RGD:1343872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE PMID:16465624|PMID:20199538|PMID:25741868|PMID:31312705 11722121 KRT5 keratin 5 gene DOID:9002226 Localized Epidermolysis Bullosa Simplex 2C ISO RGD:1343872 D RGD:7240710 20211110 OMIM 11722121 KRT5 keratin 5 gene DOID:9002226 Localized Epidermolysis Bullosa Simplex 2C ISO RGD:1343872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, localized | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, localized, modifier of PMID:16098032|PMID:18384561|PMID:21144712|PMID:25741868|PMID:28425111|PMID:28492532|PMID:31302245|PMID:7520042|PMID:7537780|PMID:7688477|PMID:8807337 11722121 KRT5 keratin 5 gene DOID:9002302 Generalized Severe Epidermolysis Bullosa Simplex 1A ISO RGD:1343872 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A, generalized severe PMID:10730767|PMID:16098032|PMID:16601668|PMID:16882168|PMID:20030639|PMID:20301543|PMID:25741868|PMID:26743602|PMID:28561874|PMID:9036937 11722121 KRT5 keratin 5 gene DOID:9002684 Localized Epidermolysis Bullosa Simplex 1C ISO RGD:1343872 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized PMID:16098032|PMID:16601668|PMID:16882168|PMID:20030639|PMID:20199538|PMID:20301543|PMID:22005030|PMID:25741868|PMID:26743602|PMID:28492532|PMID:28561874|PMID:7537780|PMID:7688477|PMID:9036937 11722121 KRT5 keratin 5 gene DOID:9002815 Generalized Severe Epidermolysis Bullosa Simplex 2A ISO RGD:1343872 D RGD:7240710 20211110 OMIM 11722121 KRT5 keratin 5 gene DOID:9002815 Generalized Severe Epidermolysis Bullosa Simplex 2A ISO RGD:1343872 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2A, generalized severe PMID:10234505|PMID:10383750|PMID:1372711|PMID:16098032|PMID:16601668|PMID:16882168|PMID:20030639|PMID:20301543|PMID:25741868|PMID:26743602|PMID:28561874|PMID:8757772|PMID:9036937 11722121 KRT5 keratin 5 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1343872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11722121 KRT5 keratin 5 gene DOID:9004270 Generalized Epidermolysis Bullosa Simplex 2B ISO RGD:1343872 D RGD:7240710 20211110 OMIM 11722121 KRT5 keratin 5 gene DOID:9004270 Generalized Epidermolysis Bullosa Simplex 2B ISO RGD:1343872 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2B, generalized intermediate PMID:11407988|PMID:11407989|PMID:16882168|PMID:17039244|PMID:1718160|PMID:25741868|PMID:28492532|PMID:34680898|PMID:7534039|PMID:7686424|PMID:9740251 11722121 KRT5 keratin 5 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1343872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11722121 KRT5 keratin 5 gene DOID:9006734 Dowling-Degos Disease 1 ISO RGD:1343872 D RGD:7240710 20221005 OMIM 11722121 KRT5 keratin 5 gene DOID:9006734 Dowling-Degos Disease 1 ISO RGD:1343872 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: Dowling-Degos disease 1 PMID:14674915|PMID:16465624|PMID:20222933|PMID:25741868|PMID:3188604 11722121 KRT5 keratin 5 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1343872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22011395 11722121 KRT5 keratin 5 gene DOID:9008678 Epidermolysis Bullosa Simplex 2E with Migratory Circinate Erythema ISO RGD:1343872 D RGD:7240710 20180130 OMIM 11722121 KRT5 keratin 5 gene DOID:9008678 Epidermolysis Bullosa Simplex 2E with Migratory Circinate Erythema ISO RGD:1343872 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with migratory circinate erythema PMID:12925204|PMID:15324323|PMID:15647384|PMID:15982306|PMID:20055872|PMID:20301543|PMID:23889190|PMID:24104543|PMID:25741868|PMID:27730678|PMID:28492532|PMID:29180315|PMID:31965605|PMID:7520042|PMID:8807337|PMID:9036937 11722121 KRT5 keratin 5 gene DOID:9008939 Breast Neoplasms ISO RGD:1343872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25330770 11722146 WIZ WIZ zinc finger gene DOID:1936 atherosclerosis ISO RGD:1607009 D RGD:9068941 20230128 RGD associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) PMID:33381146|REF_RGD_ID:155882464 11722146 WIZ WIZ zinc finger gene DOID:630 genetic disease ISO RGD:1607009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11722162 GDPD4 glycerophosphodiester phosphodiesterase domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1602967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11722162 GDPD4 glycerophosphodiester phosphodiesterase domain containing 4 gene DOID:630 genetic disease ISO RGD:1602967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11722187 KLHL17 kelch like family member 17 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1348319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11722187 KLHL17 kelch like family member 17 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1348319 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11722187 KLHL17 kelch like family member 17 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1348319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11722187 KLHL17 kelch like family member 17 gene DOID:0111934 immunodeficiency 38 ISO RGD:1348319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11722187 KLHL17 kelch like family member 17 gene DOID:0111935 immunodeficiency 16 ISO RGD:1348319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11722187 KLHL17 kelch like family member 17 gene DOID:630 genetic disease ISO RGD:1348319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11722187 KLHL17 kelch like family member 17 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11722187 KLHL17 kelch like family member 17 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1348319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11722187 KLHL17 kelch like family member 17 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1348319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 11722207 IFIT3 interferon induced protein with tetratricopeptide repeats 3 gene DOID:0080600 COVID-19 ISO RGD:1353716 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11722207 IFIT3 interferon induced protein with tetratricopeptide repeats 3 gene DOID:14497 Wolman disease ISO RGD:1353716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wolman disease PMID:28492532 11722207 IFIT3 interferon induced protein with tetratricopeptide repeats 3 gene DOID:6000 congestive heart failure ISO RGD:1353716 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 11722207 IFIT3 interferon induced protein with tetratricopeptide repeats 3 gene DOID:630 genetic disease ISO RGD:1353716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11722207 IFIT3 interferon induced protein with tetratricopeptide repeats 3 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1353716 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532 11722207 IFIT3 interferon induced protein with tetratricopeptide repeats 3 gene DOID:9001488 Human Influenza ISO RGD:1353716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11722207 IFIT3 interferon induced protein with tetratricopeptide repeats 3 gene DOID:9006205 Animal Disease Models ISO RGD:1353716 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 11722222 TGM1 transglutaminase 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:731987 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11722222 TGM1 transglutaminase 1 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:731987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:10482949|PMID:10914678|PMID:11407995|PMID:11511296|PMID:14996130|PMID:16968736|PMID:18948357|PMID:19212342|PMID:19241467|PMID:19262603|PMID:19863506|PMID:19890349|PMID:20167857|PMID:20663883|PMID:21895619|PMID:22258055|PMID:22801880|PMID:23096117|PMID:23278109|PMID:23895935|PMID:24033266|PMID:24314425|PMID:24419105|PMID:25154629|PMID:25525159|PMID:25741868|PMID:25766764|PMID:26076875|PMID:26594337|PMID:26762237|PMID:27025581|PMID:28403434|PMID:28492532|PMID:30578701|PMID:30693114|PMID:31046801|PMID:31168818|PMID:31631373|PMID:31953843|PMID:32105361|PMID:32573669|PMID:32597326|PMID:33786896|PMID:34782754|PMID:7581379|PMID:7824952|PMID:9178327|PMID:9261103|PMID:9326318|PMID:9359043|PMID:9545389|PMID:9593710|PMID:9887377 11722222 TGM1 transglutaminase 1 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 ISO RGD:731987 D RGD:7240710 20180130 OMIM 11722222 TGM1 transglutaminase 1 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 ISO RGD:731987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 PMID:10232404|PMID:10482949|PMID:10694685|PMID:10886517|PMID:10914678|PMID:11251583|PMID:11298529|PMID:11348475|PMID:11407995|PMID:11511296|PMID:12535215|PMID:12542526|PMID:14996130|PMID:16133457|PMID:16199547|PMID:16280294|PMID:16908342|PMID:16968736|PMID:16977323|PMID:17635512|PMID:18669893|PMID:18948357|PMID:19156839|PMID:19212342|PMID:19241467|PMID:19262603|PMID:19278426|PMID:19500103|PMID:19863506|PMID:19890349|PMID:20021785|PMID:20137757|PMID:20167857|PMID:20301779|PMID:20522418|PMID:20663883|PMID:21199492|PMID:21668430|PMID:21895619|PMID:22211879|PMID:22258055|PMID:22311480|PMID:22437313|PMID:22511925|PMID:22622417|PMID:22801880|PMID:22992804|PMID:23096117|PMID:23192619|PMID:23278109|PMID:23621129|PMID:23689228|PMID:23895935|PMID:24033266|PMID:24314425|PMID:24419105|PMID:24824130|PMID:25154629|PMID:25525159|PMID:25741868|PMID:25766764|PMID:25998749|PMID:26076875|PMID:26220141|PMID:26594337|PMID:26620441|PMID:26762237|PMID:26990434|PMID:27025581|PMID:27442430|PMID:28403434|PMID:28488422|PMID:28492532|PMID:28747283|PMID:30578701|PMID:30600594|PMID:30693114|PMID:30950025|PMID:31046801|PMID:31168818|PMID:31631373|PMID:31953843|PMID:32105361|PMID:32573669|PMID:32597326|PMID:33786896|PMID:34782754|PMID:7581379|PMID:7773290|PMID:7824952|PMID:9178327|PMID:9261103|PMID:9326318|PMID:9359043|PMID:9545389|PMID:9593710|PMID:9887377 11722222 TGM1 transglutaminase 1 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:731987 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:18669893|PMID:20301779|PMID:21199492|PMID:22211879|PMID:25741868|PMID:28492532 11722222 TGM1 transglutaminase 1 gene DOID:0070018 autosomal dominant dyskeratosis congenita 3 ISO RGD:731987 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 3 PMID:18669893|PMID:20301779|PMID:21199492|PMID:22211879|PMID:25741868|PMID:28492532 11722222 TGM1 transglutaminase 1 gene DOID:0070026 Revesz syndrome ISO RGD:731987 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Revesz syndrome PMID:18669893|PMID:20301779|PMID:21199492|PMID:22211879|PMID:25741868|PMID:28492532 11722222 TGM1 transglutaminase 1 gene DOID:10140 dry eye syndrome ISO RGD:731987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16146918 11722222 TGM1 transglutaminase 1 gene DOID:1697 ichthyosis ISO RGD:731987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ichthyosis PMID:24824130|PMID:25741868 11722222 TGM1 transglutaminase 1 gene DOID:2729 dyskeratosis congenita ISO RGD:731987 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18669893|PMID:20301779|PMID:21199492|PMID:22211879|PMID:25741868|PMID:28492532 11722222 TGM1 transglutaminase 1 gene DOID:3602 toxic encephalopathy ISO RGD:731987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11722222 TGM1 transglutaminase 1 gene DOID:409 liver disease ISO RGD:731987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11722222 TGM1 transglutaminase 1 gene DOID:630 genetic disease ISO RGD:731987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11722222 TGM1 transglutaminase 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:731987 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11722222 TGM1 transglutaminase 1 gene DOID:9001341 Chloracne ISO RGD:731987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21237254 11722222 TGM1 transglutaminase 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:731987 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11722222 TGM1 transglutaminase 1 gene DOID:9008550 Vitamin A Deficiency ISO RGD:731987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16146918 11722248 IP6K3 inositol hexakisphosphate kinase 3 gene DOID:0050553 JMP syndrome ISO RGD:1350328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11722248 IP6K3 inositol hexakisphosphate kinase 3 gene DOID:630 genetic disease ISO RGD:1350328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11722263 KHDC1 KH domain containing 1 gene DOID:3659 sialuria ISO RGD:1348536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 11722263 KHDC1 KH domain containing 1 gene DOID:630 genetic disease ISO RGD:1348536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11722287 ARL15 ADP ribosylation factor like GTPase 15 gene DOID:630 genetic disease ISO RGD:1323226 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11722287 ARL15 ADP ribosylation factor like GTPase 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11722296 PARPBP PARP1 binding protein gene DOID:630 genetic disease ISO RGD:1605996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11722317 RABEP1 rabaptin, RAB GTPase binding effector protein 1 gene DOID:0111379 fetal akinesia deformation sequence syndrome 4 ISO RGD:1346664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 PMID:25741868 11722317 RABEP1 rabaptin, RAB GTPase binding effector protein 1 gene DOID:3307 teratoma ISO RGD:1346664 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 11722317 RABEP1 rabaptin, RAB GTPase binding effector protein 1 gene DOID:630 genetic disease ISO RGD:1346664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11722338 CLGN calmegin gene DOID:630 genetic disease ISO RGD:1343269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11722338 CLGN calmegin gene DOID:9007661 Dwarfism ISO RGD:1343269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11722357 MYO1H myosin IH gene DOID:630 genetic disease ISO RGD:1350940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11722357 MYO1H myosin IH gene DOID:9001449 Congenital Central Hypoventilation Syndrome 2 and Autonomic Dysfunction ISO RGD:1350940 D RGD:7240710 20211020 OMIM 11722357 MYO1H myosin IH gene DOID:9001449 Congenital Central Hypoventilation Syndrome 2 and Autonomic Dysfunction ISO RGD:1350940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction PMID:25741868|PMID:28779001 11722392 LTA4H leukotriene A4 hydrolase gene DOID:0080600 COVID-19 ISO RGD:1322731 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11722392 LTA4H leukotriene A4 hydrolase gene DOID:10754 otitis media ISO RGD:9009488 D RGD:9068941 20200609 RGD PMID:20433028|REF_RGD_ID:11553910 11722392 LTA4H leukotriene A4 hydrolase gene DOID:1749 squamous cell carcinoma ISO RGD:1311333 D RGD:9068941 20200609 RGD protein:increased expression:tongue, carcinoma, stroma (rat) PMID:17985342|REF_RGD_ID:2316582 11722392 LTA4H leukotriene A4 hydrolase gene DOID:1936 atherosclerosis ISO RGD:1322731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16698924 11722392 LTA4H leukotriene A4 hydrolase gene DOID:2841 asthma ISO RGD:1311333 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, cerebral cortex (rat) PMID:15715933|REF_RGD_ID:2316607 11722392 LTA4H leukotriene A4 hydrolase gene DOID:299 adenocarcinoma ISO RGD:1311333 D RGD:9068941 20200609 RGD protein:increased expression:esophagus (rat) PMID:12865451|REF_RGD_ID:2316606 11722392 LTA4H leukotriene A4 hydrolase gene DOID:630 genetic disease ISO RGD:1322731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11722392 LTA4H leukotriene A4 hydrolase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11722417 DNAJC8 DnaJ heat shock protein family (Hsp40) member C8 gene DOID:630 genetic disease ISO RGD:1314401 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11722438 ART5 ADP-ribosyltransferase 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1347628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11722438 ART5 ADP-ribosyltransferase 5 gene DOID:0080773 delta beta-thalassemia ISO RGD:1347628 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11722438 ART5 ADP-ribosyltransferase 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1347628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11722438 ART5 ADP-ribosyltransferase 5 gene DOID:630 genetic disease ISO RGD:1347628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11722456 PCNA proliferating cell nuclear antigen gene DOID:0080178 mucositis ISO RGD:3269 D RGD:9068941 20200609 RGD protein:decreased expression:intestine: PMID:21080177|REF_RGD_ID:10448991 11722456 PCNA proliferating cell nuclear antigen gene DOID:0090103 Huntington's disease-like 1 ISO RGD:732094 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11722456 PCNA proliferating cell nuclear antigen gene DOID:10534 stomach cancer ameliorates ISO RGD:732094 D RGD:9068941 20211029 RGD human cells in mouse model PMID:26432329|REF_RGD_ID:150520156 11722456 PCNA proliferating cell nuclear antigen gene DOID:11446 sciatic neuropathy ISO RGD:3269 D RGD:9068941 20200609 RGD PMID:23014974|REF_RGD_ID:10448976 11722456 PCNA proliferating cell nuclear antigen gene DOID:11476 osteoporosis ISO RGD:3269 D RGD:9068941 20200609 RGD protein:increased expression:osteoblast: PMID:22550338|REF_RGD_ID:10045656 11722456 PCNA proliferating cell nuclear antigen gene DOID:12217 Lewy body dementia ISO RGD:732094 D RGD:9068941 20200609 RGD protein:increased expression:Hippocampal sub ventricular zone,Subgranular layer: PMID:20665591|REF_RGD_ID:10448971 11722456 PCNA proliferating cell nuclear antigen gene DOID:127 leiomyoma ISO RGD:732094 D RGD:9068941 20200609 RGD protein:increased expression:myometrium PMID:18000229|REF_RGD_ID:2292498 11722456 PCNA proliferating cell nuclear antigen gene DOID:127 leiomyoma treatment ISO RGD:3269 D RGD:9068941 20200609 RGD PMID:21896544|REF_RGD_ID:10413890 11722456 PCNA proliferating cell nuclear antigen gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:732094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17121042 11722456 PCNA proliferating cell nuclear antigen gene DOID:13603 obstructive jaundice treatment ISO RGD:3269 D RGD:9068941 20200609 RGD PMID:12917765|REF_RGD_ID:10448973 11722456 PCNA proliferating cell nuclear antigen gene DOID:1459 hypothyroidism ISO RGD:3269 D RGD:9068941 20200609 RGD PMID:21273639|REF_RGD_ID:10448988 11722456 PCNA proliferating cell nuclear antigen gene DOID:2154 nephroblastoma disease_progression ISO RGD:732094 D RGD:9068941 20200609 RGD PMID:11869017|REF_RGD_ID:2315007 11722456 PCNA proliferating cell nuclear antigen gene DOID:224 transient cerebral ischemia ISO RGD:3269 D RGD:9068941 20200609 RGD PMID:9757027|REF_RGD_ID:10448974 11722456 PCNA proliferating cell nuclear antigen gene DOID:2316 brain ischemia ISO RGD:3269 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:12099899|REF_RGD_ID:729592 11722456 PCNA proliferating cell nuclear antigen gene DOID:299 adenocarcinoma ISO RGD:732094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19028472 11722456 PCNA proliferating cell nuclear antigen gene DOID:3008 invasive ductal carcinoma severity ISO RGD:732094 D RGD:9068941 20200609 RGD PMID:8102204|REF_RGD_ID:2315014 11722456 PCNA proliferating cell nuclear antigen gene DOID:326 ischemia ISO RGD:732094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19458120 11722456 PCNA proliferating cell nuclear antigen gene DOID:3571 liver cancer disease_progression ISO RGD:3269 D RGD:9068941 20220224 RGD protein:increased expression:liver (rat) PMID:11797828|REF_RGD_ID:151356973 11722456 PCNA proliferating cell nuclear antigen gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:732094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11722456 PCNA proliferating cell nuclear antigen gene DOID:4440 seminoma disease_progression ISO RGD:732094 D RGD:9068941 20200609 RGD PMID:7474604|REF_RGD_ID:2315012 11722456 PCNA proliferating cell nuclear antigen gene DOID:4450 renal cell carcinoma severity ISO RGD:732094 D RGD:9068941 20200609 RGD PMID:11369057|REF_RGD_ID:2315008 11722456 PCNA proliferating cell nuclear antigen gene DOID:630 genetic disease ISO RGD:732094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11722456 PCNA proliferating cell nuclear antigen gene DOID:684 hepatocellular carcinoma treatment ISO RGD:3269 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:23219601|REF_RGD_ID:10448993 11722456 PCNA proliferating cell nuclear antigen gene DOID:684 hepatocellular carcinoma treatment ISO RGD:3269 D RGD:9068941 20220520 RGD PMID:25999787|REF_RGD_ID:152177911 11722456 PCNA proliferating cell nuclear antigen gene DOID:687 hepatoblastoma ISO RGD:732094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11560253 11722456 PCNA proliferating cell nuclear antigen gene DOID:8893 psoriasis ISO RGD:732094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10384915 11722456 PCNA proliferating cell nuclear antigen gene DOID:9000457 Germ Cell and Embryonal Neoplasms disease_progression ISO RGD:732094 D RGD:9068941 20200609 RGD PMID:10533299|REF_RGD_ID:2315009 11722456 PCNA proliferating cell nuclear antigen gene DOID:9000855 Experimental Radiation Injuries ISO RGD:732094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21931560 11722456 PCNA proliferating cell nuclear antigen gene DOID:9000965 Neoplasm Metastasis ISO RGD:732094 D RGD:9068941 20200609 RGD associated with Seminoma PMID:9143022|REF_RGD_ID:2315011 11722456 PCNA proliferating cell nuclear antigen gene DOID:9002170 Experimental Neoplasms ISO RGD:732094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20932960 11722456 PCNA proliferating cell nuclear antigen gene DOID:9002196 Ataxia-Telangiectasia-Like Disorder 2 ISO RGD:732094 D RGD:7240710 20180130 OMIM 11722456 PCNA proliferating cell nuclear antigen gene DOID:9002196 Ataxia-Telangiectasia-Like Disorder 2 ISO RGD:732094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 2 PMID:24911150|PMID:25741868 11722456 PCNA proliferating cell nuclear antigen gene DOID:9002928 Colonic Neoplasms ISO RGD:732094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19028472|PMID:19723570 11722456 PCNA proliferating cell nuclear antigen gene DOID:9004207 Testicular Neoplasms disease_progression ISO RGD:732094 D RGD:9068941 20200609 RGD PMID:7474604|REF_RGD_ID:2315012 11722456 PCNA proliferating cell nuclear antigen gene DOID:9004240 Phyllodes Tumor disease_progression ISO RGD:732094 D RGD:9068941 20200609 RGD PMID:10374321|REF_RGD_ID:2315010 11722456 PCNA proliferating cell nuclear antigen gene DOID:9004422 Chagas Cardiomyopathy ISO RGD:3269 D RGD:9068941 20200609 RGD protein:increased expression:myocardium: PMID:12435130|REF_RGD_ID:10448990 11722456 PCNA proliferating cell nuclear antigen gene DOID:9004583 Ataxia Telangiectasia Like Disorder ISO RGD:732094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11722456 PCNA proliferating cell nuclear antigen gene DOID:9005172 Lung Neoplasms ISO RGD:732094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11884234 11722456 PCNA proliferating cell nuclear antigen gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3269 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:mammary gland: PMID:2567593|REF_RGD_ID:10448972 11722456 PCNA proliferating cell nuclear antigen gene DOID:9005396 Intimal Hyperplasia treatment ISO RGD:3269 D RGD:9068941 20200609 RGD PMID:8104336|REF_RGD_ID:10448975 11722456 PCNA proliferating cell nuclear antigen gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:3269 D RGD:9068941 20230216 RGD protein:increased expression:lung (rat) PMID:26485208|REF_RGD_ID:12910856 11722456 PCNA proliferating cell nuclear antigen gene DOID:9006182 Carotid Artery Injuries ISO RGD:732095 D RGD:9068941 20230427 RGD protein:increased expression:vascular smooth muscle cell carotid artery (mouse) PMID:25751394|REF_RGD_ID:329328927 11722456 PCNA proliferating cell nuclear antigen gene DOID:9007502 Brain Neoplasms ISO RGD:732094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20932960 11722456 PCNA proliferating cell nuclear antigen gene DOID:9008691 Liver Injury ISO RGD:3269 D RGD:9068941 20200609 RGD PMID:7906221|REF_RGD_ID:10448980 11722456 PCNA proliferating cell nuclear antigen gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:732094 D RGD:9068941 20200609 RGD PMID:8098267|REF_RGD_ID:2315013 11722467 NUGGC nuclear GTPase, germinal center associated gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1626574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11722467 NUGGC nuclear GTPase, germinal center associated gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1626574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11722467 NUGGC nuclear GTPase, germinal center associated gene DOID:630 genetic disease ISO RGD:1626574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11722493 NSG1 neuronal vesicle trafficking associated 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:737576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 11722501 LOC100990398 transient receptor potential cation channel subfamily V member 6 gene DOID:11612 polycystic ovary syndrome ISO RGD:731367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11722501 LOC100990398 transient receptor potential cation channel subfamily V member 6 gene DOID:13543 hyperparathyroidism ISO RGD:731367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism PMID:25741868|PMID:30144375 11722501 LOC100990398 transient receptor potential cation channel subfamily V member 6 gene DOID:630 genetic disease ISO RGD:731367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11722501 LOC100990398 transient receptor potential cation channel subfamily V member 6 gene DOID:9004047 Transient Neonatal Hyperparathyroidism ISO RGD:731367 D RGD:7240710 20190315 OMIM 11722501 LOC100990398 transient receptor potential cation channel subfamily V member 6 gene DOID:9004047 Transient Neonatal Hyperparathyroidism ISO RGD:731367 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism, transient neonatal PMID:25741868|PMID:25741888|PMID:27296226|PMID:28492532|PMID:28878326|PMID:29258289|PMID:29861107|PMID:30820485 11722537 DLEU7 deleted in lymphocytic leukemia 7 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1605843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11722537 DLEU7 deleted in lymphocytic leukemia 7 gene DOID:1059 intellectual disability ISO RGD:1605843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11722537 DLEU7 deleted in lymphocytic leukemia 7 gene DOID:630 genetic disease ISO RGD:1605843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11722544 TMEM65 transmembrane protein 65 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1603356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11722544 TMEM65 transmembrane protein 65 gene DOID:630 genetic disease ISO RGD:1603356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11722544 TMEM65 transmembrane protein 65 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11722561 LOC100994379 olfactory receptor 1J4 gene DOID:630 genetic disease ISO RGD:1354380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11722564 FOCAD focadhesin gene DOID:5082 liver cirrhosis ISO RGD:1352316 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35864190 11722564 FOCAD focadhesin gene DOID:5419 schizophrenia ISO RGD:1352316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11722564 FOCAD focadhesin gene DOID:630 genetic disease ISO RGD:1352316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11722564 FOCAD focadhesin gene DOID:9005712 Severe Congenital Liver Disease ISO RGD:1352316 D RGD:7240710 20220831 OMIM 11722564 FOCAD focadhesin gene DOID:9005712 Severe Congenital Liver Disease ISO RGD:1352316 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Liver disease, severe congenital PMID:35864190 11722683 DOCK8 dedicator of cytokinesis 8 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1603953 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 11722683 DOCK8 dedicator of cytokinesis 8 gene DOID:0070032 autosomal dominant intellectual developmental disorder 2 ISO RGD:1603953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 2 PMID:28492532 11722683 DOCK8 dedicator of cytokinesis 8 gene DOID:0080545 hyper IgE syndrome ISO RGD:1603953 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HIES autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE syndrome | ClinVar Annotator: match by term: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive PMID:14722525|PMID:16199547|PMID:16391785|PMID:17576681|PMID:18060736|PMID:19776401|PMID:20004785|PMID:20226292|PMID:20622910|PMID:21324546|PMID:22006977|PMID:22476911|PMID:22534316|PMID:23380217|PMID:23859592|PMID:24033266|PMID:24418481|PMID:24673638|PMID:24797421|PMID:25167861|PMID:25640679|PMID:25724123|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26573532|PMID:26659092|PMID:26680607|PMID:26744459|PMID:27379089|PMID:27398204|PMID:27872624|PMID:27890707|PMID:27980540|PMID:28070732|PMID:28191889|PMID:28492532|PMID:28750028|PMID:29058101|PMID:29483666|PMID:29867916|PMID:30425284|PMID:30564305|PMID:30697212|PMID:31242861|PMID:31596517|PMID:31980526|PMID:32108967|PMID:32135276|PMID:32531373|PMID:32888943|PMID:33251169|PMID:33290277|PMID:33587123|PMID:9536098 11722683 DOCK8 dedicator of cytokinesis 8 gene DOID:0080594 hyper IgE recurrent infection syndrome 2 ISO RGD:1603953 D RGD:7240710 20190227 OMIM 11722683 DOCK8 dedicator of cytokinesis 8 gene DOID:0080594 hyper IgE recurrent infection syndrome 2 ISO RGD:1603953 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE PMID:14722525|PMID:16199547|PMID:16391785|PMID:17576681|PMID:18060736|PMID:19776401|PMID:20004785|PMID:20226292|PMID:20622910|PMID:21324546|PMID:22006977|PMID:22476911|PMID:22534316|PMID:23380217|PMID:23859592|PMID:24033266|PMID:24418481|PMID:24673638|PMID:24797421|PMID:25167861|PMID:25640679|PMID:25724123|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26573532|PMID:26659092|PMID:26680607|PMID:26744459|PMID:27379089|PMID:27398204|PMID:27872624|PMID:27890707|PMID:27980540|PMID:28070732|PMID:28191889|PMID:28492532|PMID:28750028|PMID:29058101|PMID:29483666|PMID:29867916|PMID:30425284|PMID:30564305|PMID:30697212|PMID:31242861|PMID:31596517|PMID:31980526|PMID:32108967|PMID:32135276|PMID:32531373|PMID:32888943|PMID:33251169|PMID:33290277|PMID:33587123|PMID:9536098 11722683 DOCK8 dedicator of cytokinesis 8 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1603953 D RGD:9068941 20201203 RGD DNA:mutations:cds:c.2402 ���1G>A,c.1498 C>T (p.R500X)(human) PMID:29058101|REF_RGD_ID:40886273 11722683 DOCK8 dedicator of cytokinesis 8 gene DOID:104 bacterial infectious disease susceptibility ISO RGD:1603953 D RGD:9068941 20201204 RGD DNA:mutations: : PMID:25724123|REF_RGD_ID:40886274 11722683 DOCK8 dedicator of cytokinesis 8 gene DOID:1059 intellectual disability ISO RGD:1603953 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:14722525|PMID:16199547|PMID:18060736|PMID:19776401|PMID:24033266|PMID:25724123|PMID:25741868|PMID:26046366|PMID:26744459|PMID:28492532|PMID:29867916|PMID:31596517|PMID:31980526 11722683 DOCK8 dedicator of cytokinesis 8 gene DOID:2043 hepatitis B disease_progression ISO RGD:1603953 D RGD:9068941 20210108 RGD DNA:SNP::rs506121(human) PMID:32297155|REF_RGD_ID:40903057 11722683 DOCK8 dedicator of cytokinesis 8 gene DOID:3310 atopic dermatitis ISO RGD:1603953 D RGD:9068941 20210108 RGD DNA:mutations:cds: PMID:22476911|REF_RGD_ID:40903056 11722683 DOCK8 dedicator of cytokinesis 8 gene DOID:5419 schizophrenia ISO RGD:1603953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11722683 DOCK8 dedicator of cytokinesis 8 gene DOID:5810 adenosine deaminase deficiency ISO RGD:1603953 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Bubble boy disease PMID:14722525|PMID:16199547|PMID:18060736|PMID:19776401|PMID:24033266|PMID:25724123|PMID:25741868|PMID:26046366|PMID:26744459|PMID:28492532|PMID:31980526 11722683 DOCK8 dedicator of cytokinesis 8 gene DOID:612 primary immunodeficiency disease ISO RGD:1603953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11722683 DOCK8 dedicator of cytokinesis 8 gene DOID:627 severe combined immunodeficiency ISO RGD:1603953 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:14722525|PMID:16199547|PMID:18060736|PMID:19776401|PMID:24033266|PMID:25724123|PMID:25741868|PMID:26046366|PMID:26744459|PMID:27891178|PMID:28492532|PMID:29930340|PMID:30697212|PMID:31980526|PMID:32888943 11722683 DOCK8 dedicator of cytokinesis 8 gene DOID:630 genetic disease ISO RGD:1603953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11722683 DOCK8 dedicator of cytokinesis 8 gene DOID:687 hepatoblastoma ISO RGD:1603953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 11722683 DOCK8 dedicator of cytokinesis 8 gene DOID:769 neuroblastoma ISO RGD:1603953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 11722683 DOCK8 dedicator of cytokinesis 8 gene DOID:8566 herpes simplex severity ISO RGD:1317066 D RGD:9068941 20210108 RGD PMID:25776845|REF_RGD_ID:11055046 11722683 DOCK8 dedicator of cytokinesis 8 gene DOID:9002801 Recurrence ISO RGD:1603953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 11722683 DOCK8 dedicator of cytokinesis 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 11722683 DOCK8 dedicator of cytokinesis 8 gene DOID:9007356 Eczema ISO RGD:1603953 D RGD:9068941 20201218 RGD DNA:mutations: : PMID:22534316|REF_RGD_ID:40902960 11722683 DOCK8 dedicator of cytokinesis 8 gene DOID:9008086 Developmental Disabilities ISO RGD:1603953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18060736 11722683 DOCK8 dedicator of cytokinesis 8 gene DOID:934 viral infectious disease susceptibility ISO RGD:1603953 D RGD:9068941 20201204 RGD DNA:mutations: : PMID:25724123|REF_RGD_ID:40886274 11722683 DOCK8 dedicator of cytokinesis 8 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1561588 D RGD:9068941 20200609 RGD PMID:26363782|REF_RGD_ID:11532657 11722735 PLP1 proteolipid protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11722735 PLP1 proteolipid protein 1 gene DOID:0110773 hereditary spastic paraplegia 2 ISO RGD:732304 D RGD:7240710 20180130 OMIM 11722735 PLP1 proteolipid protein 1 gene DOID:0110773 hereditary spastic paraplegia 2 ISO RGD:732304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 PMID:10319885|PMID:10319897|PMID:10417279|PMID:11093273|PMID:12601703|PMID:12910435|PMID:1384324|PMID:14452137|PMID:14745569|PMID:15450775|PMID:15712223|PMID:16199547|PMID:16287154|PMID:16380909|PMID:16844304|PMID:1720927|PMID:17438221|PMID:17576681|PMID:18160035|PMID:18414213|PMID:18470932|PMID:19328639|PMID:19825935|PMID:19955111|PMID:20022439|PMID:21679407|PMID:22016529|PMID:22343157|PMID:22695888|PMID:23344956|PMID:23347225|PMID:24088041|PMID:24139698|PMID:24519770|PMID:2479017|PMID:2480601|PMID:24890387|PMID:24936452|PMID:25741868|PMID:26125040|PMID:26467025|PMID:26633545|PMID:26786043|PMID:26795593|PMID:27535533|PMID:2773936|PMID:28366443|PMID:28492532|PMID:29451896|PMID:30314286|PMID:30337681|PMID:31448840|PMID:33504798|PMID:34782662|PMID:3827224|PMID:7488049|PMID:7522741|PMID:7531827|PMID:7539213|PMID:8012387|PMID:8320699|PMID:8659540|PMID:8723686|PMID:8786077|PMID:8956049|PMID:9056547|PMID:9106132|PMID:9247276|PMID:9427151|PMID:9489796|PMID:9536098|PMID:9633722|PMID:9634530|PMID:9934976 11722735 PLP1 proteolipid protein 1 gene DOID:1059 intellectual disability ISO RGD:732304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11722735 PLP1 proteolipid protein 1 gene DOID:11832 visual epilepsy ISO RGD:3354 D RGD:9068941 20200609 RGD PMID:2479544|PMID:434110|REF_RGD_ID:1358781|REF_RGD_ID:1358782 11722735 PLP1 proteolipid protein 1 gene DOID:12849 autistic disorder ISO RGD:732304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11722735 PLP1 proteolipid protein 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:732304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:10319897|PMID:15712223|PMID:25741868|PMID:26467025|PMID:28492532 11722735 PLP1 proteolipid protein 1 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:732304 D RGD:7240710 20180130 OMIM 11722735 PLP1 proteolipid protein 1 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:732304 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, atypical | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, connatal | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, mild PMID:10319897|PMID:10417279|PMID:11071483|PMID:11093273|PMID:12297985|PMID:12605435|PMID:12910435|PMID:1376966|PMID:1384324|PMID:15712223|PMID:1605230|PMID:16380909|PMID:16778599|PMID:1707231|PMID:1715570|PMID:1720927|PMID:18414213|PMID:18470932|PMID:18835559|PMID:19396823|PMID:20022439|PMID:20301361|PMID:21679407|PMID:22343157|PMID:22695888|PMID:24088041|PMID:24139698|PMID:24519770|PMID:2479017|PMID:2480601|PMID:25326635|PMID:25491635|PMID:25741868|PMID:26125040|PMID:26467025|PMID:26633545|PMID:26795593|PMID:27535533|PMID:2773936|PMID:28286750|PMID:28492532|PMID:29451896|PMID:31690835|PMID:3827224|PMID:7488049|PMID:7573159|PMID:7574457|PMID:7683951|PMID:8696336|PMID:8723686|PMID:8786077|PMID:9056547|PMID:9482656|PMID:9633722|PMID:9634530 11722735 PLP1 proteolipid protein 1 gene DOID:3213 demyelinating disease ISO RGD:3354 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.T75P(rat) PMID:2479544|REF_RGD_ID:1358781 11722735 PLP1 proteolipid protein 1 gene DOID:630 genetic disease ISO RGD:732304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10401787|PMID:10417279|PMID:12910435|PMID:17576681|PMID:17962415|PMID:18414213|PMID:18470932|PMID:20022439|PMID:22343157|PMID:23771846|PMID:25491635|PMID:25741868|PMID:26467025|PMID:26795593|PMID:28492532|PMID:29451896|PMID:30337681|PMID:8786077|PMID:9536098 11722735 PLP1 proteolipid protein 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:732304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21068375 11722735 PLP1 proteolipid protein 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1551293 D RGD:9068941 20201211 RGD PMID:24941845|REF_RGD_ID:40902822 11722735 PLP1 proteolipid protein 1 gene DOID:9007428 Muscle Spasticity ISO RGD:732304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spasticity 11722735 PLP1 proteolipid protein 1 gene DOID:9007553 neurotoxicity treatment ISO RGD:3354 D RGD:9068941 20230323 RGD PMID:33166664|REF_RGD_ID:213230154 11722735 PLP1 proteolipid protein 1 gene DOID:9007752 Chronic Relapsing Experimental Autoimmune Encephalomyelitis ISO RGD:732304 D RGD:9068941 20200618 RGD human sequence peptide in a mouse model; associated with Herpesviridae infections PMID:12811845|REF_RGD_ID:30296670 11722735 PLP1 proteolipid protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:732304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11722767 PSMG2 proteasome assembly chaperone 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1312554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11722767 PSMG2 proteasome assembly chaperone 2 gene DOID:1059 intellectual disability ISO RGD:1312554 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11722767 PSMG2 proteasome assembly chaperone 2 gene DOID:543 dystonia ISO RGD:1312554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 11722767 PSMG2 proteasome assembly chaperone 2 gene DOID:630 genetic disease ISO RGD:1312554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11722767 PSMG2 proteasome assembly chaperone 2 gene DOID:9003015 Proteasome-Associated Autoinflammatory Syndrome 4 ISO RGD:1312554 D RGD:7240710 20210303 OMIM 11722767 PSMG2 proteasome assembly chaperone 2 gene DOID:9003015 Proteasome-Associated Autoinflammatory Syndrome 4 ISO RGD:1312554 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 4 PMID:16199547|PMID:25741868|PMID:28492532|PMID:30664889 11722767 PSMG2 proteasome assembly chaperone 2 gene DOID:9007661 Dwarfism ISO RGD:1312554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11722778 TIGD5 tigger transposable element derived 5 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1323107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11722778 TIGD5 tigger transposable element derived 5 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1323107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11722778 TIGD5 tigger transposable element derived 5 gene DOID:4621 holoprosencephaly ISO RGD:1323107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11722778 TIGD5 tigger transposable element derived 5 gene DOID:630 genetic disease ISO RGD:1323107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11722784 SOX10 SRY-box transcription factor 10 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:731681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11722784 SOX10 SRY-box transcription factor 10 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:731681 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11722784 SOX10 SRY-box transcription factor 10 gene DOID:0090111 PCWH syndrome ISO RGD:731681 D RGD:7240710 20180130 OMIM 11722784 SOX10 SRY-box transcription factor 10 gene DOID:0090111 PCWH syndrome ISO RGD:731681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PCWH syndrome PMID:10482261|PMID:10762540|PMID:11026454|PMID:12447940|PMID:15004559|PMID:1636383|PMID:17855451|PMID:17999358|PMID:19764030|PMID:20127975|PMID:22008330|PMID:24033266|PMID:25741868|PMID:25991456|PMID:26467025|PMID:27240497|PMID:28492532|PMID:30311386|PMID:9462749 11722784 SOX10 SRY-box transcription factor 10 gene DOID:0090111 PCWH syndrome severity ISO RGD:731681 D RGD:9068941 20200609 RGD PMID:25959061|REF_RGD_ID:12802339 11722784 SOX10 SRY-box transcription factor 10 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:731681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11722784 SOX10 SRY-box transcription factor 10 gene DOID:0110948 Waardenburg syndrome type 1 ISO RGD:731681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 1 PMID:21898658|PMID:28390600 11722784 SOX10 SRY-box transcription factor 10 gene DOID:0110950 Waardenburg syndrome type 2A ISO RGD:731681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 2A PMID:25741868|PMID:29407415|PMID:30311386|PMID:34599368 11722784 SOX10 SRY-box transcription factor 10 gene DOID:0110953 Waardenburg syndrome type 4A ISO RGD:731681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 4A PMID:25741868 11722784 SOX10 SRY-box transcription factor 10 gene DOID:0110955 Waardenburg syndrome type 4C ISO RGD:731681 D RGD:7240710 20180130 OMIM 11722784 SOX10 SRY-box transcription factor 10 gene DOID:0110955 Waardenburg syndrome type 4C ISO RGD:731681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 4C PMID:10077527|PMID:15004559|PMID:18348274|PMID:21965087|PMID:24033266|PMID:25741868|PMID:25991456|PMID:28492532|PMID:29407415|PMID:30311386|PMID:33442024|PMID:33724713|PMID:34599368|PMID:9462749 11722784 SOX10 SRY-box transcription factor 10 gene DOID:0110956 Waardenburg syndrome type 2E ISO RGD:731681 D RGD:7240710 20180130 OMIM 11722784 SOX10 SRY-box transcription factor 10 gene DOID:0110956 Waardenburg syndrome type 2E ISO RGD:731681 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 2E | ClinVar Annotator: match by term: Waardenburg syndrome type 2E, with neurologic involvement | ClinVar Annotator: match by term: Waardenburg syndrome type 2E, without neurologic involvement PMID:10077527|PMID:10441344|PMID:17999358|PMID:18348267|PMID:18627047|PMID:19208381|PMID:20478267|PMID:21898658|PMID:21965087|PMID:23237859|PMID:23643381|PMID:24033266|PMID:25077900|PMID:25741868|PMID:26467025|PMID:27240497|PMID:27562378|PMID:28000701|PMID:28492532|PMID:31152317|PMID:31427586|PMID:32853555|PMID:32908489|PMID:33442024|PMID:33597575|PMID:33865100|PMID:34142234|PMID:35802133|PMID:36633841|PMID:8911608 11722784 SOX10 SRY-box transcription factor 10 gene DOID:10487 Hirschsprung's disease ISO RGD:731681 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:24357527 11722784 SOX10 SRY-box transcription factor 10 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:731681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11026454|PMID:16504559 11722784 SOX10 SRY-box transcription factor 10 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:731681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11722784 SOX10 SRY-box transcription factor 10 gene DOID:3614 Kallmann syndrome ISO RGD:731681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadism with anosmia 11722784 SOX10 SRY-box transcription factor 10 gene DOID:630 genetic disease ISO RGD:731681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11722784 SOX10 SRY-box transcription factor 10 gene DOID:9004042 Olfaction Disorders ISO RGD:731681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anosmia PMID:25741868 11722784 SOX10 SRY-box transcription factor 10 gene DOID:9004147 Anosmia ISO RGD:731681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anosmia PMID:25741868 11722784 SOX10 SRY-box transcription factor 10 gene DOID:9004538 Hearing Loss ISO RGD:731681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:17999358|PMID:20127975|PMID:26467025|PMID:27240497|PMID:28492532|PMID:30311386 11722784 SOX10 SRY-box transcription factor 10 gene DOID:9005027 Waardenburg Syndrome Type 4 ISO RGD:731681 D RGD:9068941 20200609 RGD DNA:missense mutations,insertion,deletion:cds: PMID:9462749|REF_RGD_ID:12832744 11722784 SOX10 SRY-box transcription factor 10 gene DOID:9008681 Deafness ISO RGD:731681 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Deafness with anatomical inner ear anomalies PMID:25077900|PMID:27562378|PMID:28492532|PMID:29419413|PMID:32908489|PMID:35802133|PMID:36633841 11722784 SOX10 SRY-box transcription factor 10 gene DOID:9258 Waardenburg's syndrome ISO RGD:731681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome PMID:17999358|PMID:20127975|PMID:22008330|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27240497|PMID:28492532|PMID:30311386|PMID:9462749 11722796 COL9A2 collagen type IX alpha 2 chain gene DOID:0070298 multiple epiphyseal dysplasia 2 ISO RGD:1315981 D RGD:7240710 20180130 OMIM 11722796 COL9A2 collagen type IX alpha 2 chain gene DOID:0070298 multiple epiphyseal dysplasia 2 ISO RGD:1315981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 2 PMID:10364514|PMID:11565064|PMID:12244547|PMID:15633184|PMID:17576681|PMID:20358595|PMID:21671392|PMID:21922596|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29026132|PMID:30311386|PMID:3238439|PMID:33356723|PMID:8528240|PMID:9536098 11722796 COL9A2 collagen type IX alpha 2 chain gene DOID:0080046 Stickler syndrome ISO RGD:1315981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stickler syndrome PMID:28492532|PMID:30311386|PMID:31896775 11722796 COL9A2 collagen type IX alpha 2 chain gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1315981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11722796 COL9A2 collagen type IX alpha 2 chain gene DOID:1059 intellectual disability ISO RGD:1315981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11722796 COL9A2 collagen type IX alpha 2 chain gene DOID:2256 osteochondrodysplasia susceptibility ISO RGD:1315981 D RGD:9068941 20200609 RGD DNA:splice-site mutation PMID:8528240|REF_RGD_ID:1600952 11722796 COL9A2 collagen type IX alpha 2 chain gene DOID:630 genetic disease ISO RGD:1315981 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11722796 COL9A2 collagen type IX alpha 2 chain gene DOID:65 connective tissue disease ISO RGD:1315981 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:11565064|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29026132 11722796 COL9A2 collagen type IX alpha 2 chain gene DOID:9002691 Stickler Syndrome, Type V ISO RGD:1315981 D RGD:7240710 20180130 OMIM 11722796 COL9A2 collagen type IX alpha 2 chain gene DOID:9002691 Stickler Syndrome, Type V ISO RGD:1315981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stickler syndrome, type 5 PMID:20301479|PMID:21671392|PMID:25741868|PMID:28492532|PMID:30311386|PMID:33356723 11722796 COL9A2 collagen type IX alpha 2 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:1315981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11722836 NEIL1 nei like DNA glycosylase 1 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1314485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 11722836 NEIL1 nei like DNA glycosylase 1 gene DOID:0060611 abdominal obesity-metabolic syndrome ISO RGD:1314486 D RGD:9068941 20220825 MouseDO 11722836 NEIL1 nei like DNA glycosylase 1 gene DOID:10603 glucose intolerance ISO RGD:1314485 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21285402 11722836 NEIL1 nei like DNA glycosylase 1 gene DOID:1168 familial hyperlipidemia ISO RGD:1314485 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21285402 11722836 NEIL1 nei like DNA glycosylase 1 gene DOID:1826 epilepsy ISO RGD:1314485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11722836 NEIL1 nei like DNA glycosylase 1 gene DOID:2018 hyperinsulinism ISO RGD:1314485 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16446448 11722836 NEIL1 nei like DNA glycosylase 1 gene DOID:2717 Bloom syndrome ISO RGD:1314485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11722836 NEIL1 nei like DNA glycosylase 1 gene DOID:5419 schizophrenia ISO RGD:1314485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11722836 NEIL1 nei like DNA glycosylase 1 gene DOID:630 genetic disease ISO RGD:1314485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11722836 NEIL1 nei like DNA glycosylase 1 gene DOID:9001812 CONGENITAL DISORDER OF DEGLYCOSYLATION 2 ISO RGD:1314485 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Congenital disorder of deglycosylation 2 PMID:25741868|PMID:35045343 11722836 NEIL1 nei like DNA glycosylase 1 gene DOID:9003370 Dyslipidemias ISO RGD:1314485 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16446448 11722836 NEIL1 nei like DNA glycosylase 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:1314485 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16446448|PMID:17389588 11722836 NEIL1 nei like DNA glycosylase 1 gene DOID:9007692 Insulin Resistance ISO RGD:1314485 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21285402 11722836 NEIL1 nei like DNA glycosylase 1 gene DOID:9256 colorectal cancer ISO RGD:1314485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11722836 NEIL1 nei like DNA glycosylase 1 gene DOID:9452 fatty liver disease ISO RGD:1314485 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16446448|PMID:21285402 11722836 NEIL1 nei like DNA glycosylase 1 gene DOID:9970 obesity ISO RGD:1314485 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16446448|PMID:21285402 11722836 NEIL1 nei like DNA glycosylase 1 gene DOID:9970 obesity ISO RGD:1314486 D RGD:9068941 20220825 MouseDO OMIM:601665 11722870 WDR24 WD repeat domain 24 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1344935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 11722870 WDR24 WD repeat domain 24 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1344935 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11722870 WDR24 WD repeat domain 24 gene DOID:1826 epilepsy ISO RGD:1344935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11722870 WDR24 WD repeat domain 24 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11722870 WDR24 WD repeat domain 24 gene DOID:630 genetic disease ISO RGD:1344935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11722883 NLRP1 NLR family pyrin domain containing 1 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1322162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 11722883 NLRP1 NLR family pyrin domain containing 1 gene DOID:10283 prostate cancer ISO RGD:1322162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 11722883 NLRP1 NLR family pyrin domain containing 1 gene DOID:12306 vitiligo ISO RGD:1322162 D RGD:7240710 20230517 OMIM 11722883 NLRP1 NLR family pyrin domain containing 1 gene DOID:12306 vitiligo ISO RGD:1322162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Vitiligo-associated multiple autoimmune disease susceptibility 1 PMID:17377159|PMID:25741868|PMID:27662089|PMID:28492532 11722883 NLRP1 NLR family pyrin domain containing 1 gene DOID:13628 favism ISO RGD:1322162 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:25741868 11722883 NLRP1 NLR family pyrin domain containing 1 gene DOID:630 genetic disease ISO RGD:1322162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11722883 NLRP1 NLR family pyrin domain containing 1 gene DOID:9002780 Recurrent Respiratory Papillomatosis ISO RGD:1322162 D RGD:7240710 20230517 OMIM 11722883 NLRP1 NLR family pyrin domain containing 1 gene DOID:9002780 Recurrent Respiratory Papillomatosis ISO RGD:1322162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Respiratory papillomatosis, juvenile recurrent, congenital PMID:17377159|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31484767 11722883 NLRP1 NLR family pyrin domain containing 1 gene DOID:9007910 Autoinflammation with Arthritis and Dyskeratosis ISO RGD:1322162 D RGD:7240710 20230517 OMIM 11722883 NLRP1 NLR family pyrin domain containing 1 gene DOID:9007910 Autoinflammation with Arthritis and Dyskeratosis ISO RGD:1322162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammation with arthritis and dyskeratosis PMID:16918630|PMID:17377159|PMID:24033266|PMID:25741868|PMID:27965258|PMID:28492532|PMID:30291141 11722883 NLRP1 NLR family pyrin domain containing 1 gene DOID:9007939 Multiple Self-healing Palmoplantar Carcinoma ISO RGD:1322162 D RGD:7240710 20230517 OMIM 11722883 NLRP1 NLR family pyrin domain containing 1 gene DOID:9007939 Multiple Self-healing Palmoplantar Carcinoma ISO RGD:1322162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Palmoplantar carcinoma, multiple self-healing PMID:17377159|PMID:23349227|PMID:24033266|PMID:25050600|PMID:25741868|PMID:27662089|PMID:28492532 11722915 PPP1R9A protein phosphatase 1 regulatory subunit 9A gene DOID:11832 visual epilepsy susceptibility ISO RGD:1552999 D RGD:9068941 20200609 RGD PMID:22357852|REF_RGD_ID:10043800 11722915 PPP1R9A protein phosphatase 1 regulatory subunit 9A gene DOID:12858 Huntington's disease ISO RGD:1350094 D RGD:9068941 20200609 RGD mRNA:decreased expression:caudate nucleus PMID:20089533|REF_RGD_ID:10043799 11722915 PPP1R9A protein phosphatase 1 regulatory subunit 9A gene DOID:12858 Huntington's disease ISO RGD:1552999 D RGD:9068941 20200609 RGD mRNA:decreased expression:striatum(mouse) PMID:20089533|REF_RGD_ID:10043799 11722915 PPP1R9A protein phosphatase 1 regulatory subunit 9A gene DOID:224 transient cerebral ischemia treatment ISO RGD:632280 D RGD:9068941 20200609 RGD PMID:21278085|REF_RGD_ID:10043805 11722915 PPP1R9A protein phosphatase 1 regulatory subunit 9A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11722915 PPP1R9A protein phosphatase 1 regulatory subunit 9A gene DOID:630 genetic disease ISO RGD:1350094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11722915 PPP1R9A protein phosphatase 1 regulatory subunit 9A gene DOID:684 hepatocellular carcinoma onset ISO RGD:632280 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:20935162|REF_RGD_ID:10002734 11722915 PPP1R9A protein phosphatase 1 regulatory subunit 9A gene DOID:9000641 Pain treatment ISO RGD:632280 D RGD:9068941 20200609 RGD PMID:20359166|REF_RGD_ID:10002735 11722950 MTNR1B melatonin receptor 1B gene DOID:0060041 autism spectrum disorder ISO RGD:736711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20657642 11722950 MTNR1B melatonin receptor 1B gene DOID:1059 intellectual disability ISO RGD:736711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11722950 MTNR1B melatonin receptor 1B gene DOID:11612 polycystic ovary syndrome ISO RGD:736711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20207350 11722950 MTNR1B melatonin receptor 1B gene DOID:2913 acute pancreatitis ISO RGD:620798 D RGD:9068941 20200609 RGD PMID:12510864|REF_RGD_ID:9588676 11722950 MTNR1B melatonin receptor 1B gene DOID:630 genetic disease ISO RGD:736711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11722950 MTNR1B melatonin receptor 1B gene DOID:9352 type 2 diabetes mellitus ISO RGD:736711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to PMID:22286214 11722950 MTNR1B melatonin receptor 1B gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:736711 D RGD:7240710 20230505 OMIM 11722956 CSTF1 cleavage stimulation factor subunit 1 gene DOID:630 genetic disease ISO RGD:1319516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11722974 RAB44 RAB44, member RAS oncogene family gene DOID:0050553 JMP syndrome ISO RGD:1602152 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11722992 NHS NHS actin remodeling regulator gene DOID:0060599 Nance-Horan syndrome ISO RGD:1352036 D RGD:7240710 20180130 OMIM 11722992 NHS NHS actin remodeling regulator gene DOID:0060599 Nance-Horan syndrome ISO RGD:1352036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:14564667|PMID:15466011|PMID:15623749|PMID:16199547|PMID:16736028|PMID:17256798|PMID:17304053|PMID:17576681|PMID:18018428|PMID:18076117|PMID:18949062|PMID:19414485|PMID:20882036|PMID:2246772|PMID:23265383|PMID:23757202|PMID:24968223|PMID:25266737|PMID:25315662|PMID:25741868|PMID:26633542|PMID:27148795|PMID:27159028|PMID:28492532|PMID:28557584|PMID:29611406|PMID:30642278|PMID:30945684|PMID:458526|PMID:9536098 11722992 NHS NHS actin remodeling regulator gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11722992 NHS NHS actin remodeling regulator gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1352036 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:19780792|PMID:21770923|PMID:22872100|PMID:23184456|PMID:25315662|PMID:28492532|PMID:30945684 11722992 NHS NHS actin remodeling regulator gene DOID:0110272 cataract 40 ISO RGD:1352036 D RGD:7240710 20180130 OMIM 11722992 NHS NHS actin remodeling regulator gene DOID:0110272 cataract 40 ISO RGD:1352036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 40 PMID:19414485|PMID:23757202|PMID:25741868|PMID:28492532 11722992 NHS NHS actin remodeling regulator gene DOID:0111042 glycogen storage disease IXa ISO RGD:1352036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11722992 NHS NHS actin remodeling regulator gene DOID:10283 prostate cancer ISO RGD:1352036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 11722992 NHS NHS actin remodeling regulator gene DOID:1059 intellectual disability ISO RGD:1352036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11722992 NHS NHS actin remodeling regulator gene DOID:12849 autistic disorder ISO RGD:1352036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11722992 NHS NHS actin remodeling regulator gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1352036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11722992 NHS NHS actin remodeling regulator gene DOID:630 genetic disease ISO RGD:1352036 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14564667|PMID:19414485|PMID:23265383|PMID:23757202|PMID:25741868|PMID:28492532 11722992 NHS NHS actin remodeling regulator gene DOID:83 cataract ISO RGD:1352036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:26694549 11722992 NHS NHS actin remodeling regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11723025 BICD2 BICD cargo adaptor 2 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1352041 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 11723025 BICD2 BICD cargo adaptor 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1352041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11723025 BICD2 BICD cargo adaptor 2 gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1352041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 11723025 BICD2 BICD cargo adaptor 2 gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1352041 D RGD:7240710 20180130 OMIM 11723025 BICD2 BICD cargo adaptor 2 gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1352041 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:17576681|PMID:22628388|PMID:23664116|PMID:23664119|PMID:23664120|PMID:24336790|PMID:25326635|PMID:25497877|PMID:25741868|PMID:25802885|PMID:26467025|PMID:26752647|PMID:26998597|PMID:27549087|PMID:27751653|PMID:27784775|PMID:28251916|PMID:28335620|PMID:28492532|PMID:28635954|PMID:28832565|PMID:28883039|PMID:29273277|PMID:29528393|PMID:30373780|PMID:31561939|PMID:32056343|PMID:32057122|PMID:32581362|PMID:33060286|PMID:8114789|PMID:9536098|PMID:9713859 11723025 BICD2 BICD cargo adaptor 2 gene DOID:0070350 spinal muscular atrophy with predominant lower extremity 2B ISO RGD:1352041 D RGD:7240710 20200325 OMIM 11723025 BICD2 BICD cargo adaptor 2 gene DOID:0070350 spinal muscular atrophy with predominant lower extremity 2B ISO RGD:1352041 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant PMID:25741868|PMID:27751653|PMID:28492532|PMID:28635954|PMID:30054298 11723025 BICD2 BICD cargo adaptor 2 gene DOID:0070351 spinal muscular atrophy with predominant lower extremity 1 ISO RGD:1352041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant PMID:28492532 11723025 BICD2 BICD cargo adaptor 2 gene DOID:0080000 muscular disease ISO RGD:1352041 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:24336790|PMID:25741868|PMID:28492532|PMID:32581362 11723025 BICD2 BICD cargo adaptor 2 gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:1352041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy PMID:22628388|PMID:23664116|PMID:23664119|PMID:23664120|PMID:24336790|PMID:25497877|PMID:25741868|PMID:26467025|PMID:27549087|PMID:27784775|PMID:28251916|PMID:28492532|PMID:28832565|PMID:32581362|PMID:8114789 11723025 BICD2 BICD cargo adaptor 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1352041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25802885|PMID:28492532 11723025 BICD2 BICD cargo adaptor 2 gene DOID:12377 spinal muscular atrophy ISO RGD:1352041 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy PMID:22628388|PMID:23664116|PMID:23664119|PMID:23664120|PMID:25497877|PMID:25741868|PMID:27784775|PMID:28251916|PMID:28492532|PMID:8114789 11723025 BICD2 BICD cargo adaptor 2 gene DOID:1826 epilepsy ISO RGD:1352041 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:30054298 11723025 BICD2 BICD cargo adaptor 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1352041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:23664116|PMID:25741868|PMID:26467025|PMID:27549087|PMID:28492532|PMID:28832565 11723025 BICD2 BICD cargo adaptor 2 gene DOID:423 myopathy ISO RGD:1352041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:24336790|PMID:25741868|PMID:28492532|PMID:32581362 11723025 BICD2 BICD cargo adaptor 2 gene DOID:607 paraplegia ISO RGD:1352041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:26998597|PMID:28492532 11723025 BICD2 BICD cargo adaptor 2 gene DOID:630 genetic disease ISO RGD:1352041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23664116|PMID:23664120|PMID:25741868|PMID:25802885|PMID:26467025|PMID:26752647|PMID:26998597|PMID:27549087|PMID:27751653|PMID:27784775|PMID:28335620|PMID:28492532|PMID:28635954|PMID:28832565|PMID:29528393|PMID:30054298|PMID:30373780|PMID:32056343|PMID:9536098|PMID:9713859 11723025 BICD2 BICD cargo adaptor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352041 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11723025 BICD2 BICD cargo adaptor 2 gene DOID:9005324 Recurrent Metabolic Encephalomyopathic Crises with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration ISO RGD:1352041 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION PMID:25741868|PMID:28492532 11723037 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:1347443 D RGD:9068941 20221028 RGD mRNA:increased expression:colorectum (human) PMID:11358845|REF_RGD_ID:155631271 11723037 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1347443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 11723037 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:0111807 syndromic microphthalmia 9 ISO RGD:1347443 D RGD:7240710 20200527 OMIM 11723037 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:0111807 syndromic microphthalmia 9 ISO RGD:1347443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Matthew-Wood syndrome | ClinVar Annotator: match by term: Microphthalmia syndromic 9 PMID:11857549|PMID:16199547|PMID:17273977|PMID:17503335|PMID:19213032|PMID:19309693|PMID:19839040|PMID:22283518|PMID:22686418|PMID:25044680|PMID:25741868|PMID:26373900|PMID:28492532|PMID:30639323 11723037 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:1059 intellectual disability ISO RGD:1347443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17273977 11723037 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:10629 microphthalmia ISO RGD:1347443 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Microphthalmia PMID:25741868 11723037 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1347443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17273977 11723037 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:13641 exfoliation syndrome ISO RGD:1347443 D RGD:9068941 20221103 RGD mRNA:decreased expression:iris, retina (human) PMID:30986821|REF_RGD_ID:155631292 11723037 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:1682 congenital heart disease ISO RGD:1347443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17273977 11723037 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1347443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11723037 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:2717 Bloom syndrome ISO RGD:1347443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11723037 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:5419 schizophrenia ISO RGD:1347443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11723037 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:630 genetic disease ISO RGD:1347443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11723037 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:850 lung disease ISO RGD:1347443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17273977 11723037 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:8947 diabetic retinopathy treatment ISO RGD:1332061 D RGD:9068941 20221103 RGD associated with type 2 diabetes mellitus PMID:30096827|REF_RGD_ID:155631301 11723037 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:9002049 Anophthalmia ISO RGD:1347443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17273977 11723037 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:9002049 Anophthalmia ISO RGD:1347443 D RGD:9068941 20221103 RGD DNA:frameshift mutation, missense mutations:CDS:multiple (human) PMID:17273977|REF_RGD_ID:155631287 11723037 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:9002642 Isolated Microphthalmia with Coloboma ISO RGD:1347443 D RGD:9068941 20221103 RGD DNA:missense mutation:CDS:p.G204K (human) PMID:21901792|REF_RGD_ID:155631284 11723037 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1347443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316031 11723037 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1307551 D RGD:9068941 20221103 RGD protein:decreased expression:optic cup (rat) PMID:28734946|REF_RGD_ID:155631297 11723037 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1347443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316031 11723037 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:1347443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17273977 11723037 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:9256 colorectal cancer ISO RGD:1347443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11723073 ATP9A ATPase phospholipid transporting 9A (putative) gene DOID:0060747 Duane-radial ray syndrome ISO RGD:735480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Duane-radial ray syndrome PMID:11826030|PMID:15342710 11723073 ATP9A ATPase phospholipid transporting 9A (putative) gene DOID:630 genetic disease ISO RGD:735480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11723073 ATP9A ATPase phospholipid transporting 9A (putative) gene DOID:9000845 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES ISO RGD:735480 D RGD:7240710 20230505 OMIM 11723073 ATP9A ATPase phospholipid transporting 9A (putative) gene DOID:9000845 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES ISO RGD:735480 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and behavioral abnormalities PMID:25741868|PMID:34379057|PMID:34764295|PMID:36604604 11723105 CDK5RAP2 CDK5 regulatory subunit associated protein 2 gene DOID:0050569 Seckel syndrome ISO RGD:1347674 D RGD:9068941 20200609 RGD DNA:mutations:splice junction:c.383+1G>C,c.4005-9A>G(human) PMID:26436113|REF_RGD_ID:13450906 11723105 CDK5RAP2 CDK5 regulatory subunit associated protein 2 gene DOID:0070286 primary autosomal recessive microcephaly 3 ISO RGD:1347674 D RGD:7240710 20180130 OMIM 11723105 CDK5RAP2 CDK5 regulatory subunit associated protein 2 gene DOID:0070286 primary autosomal recessive microcephaly 3 ISO RGD:1347674 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly 3, primary, autosomal recessive PMID:10677332|PMID:15793586|PMID:17764569|PMID:18414213|PMID:20301772|PMID:20460369|PMID:22887808|PMID:23726037|PMID:23995685|PMID:25326637|PMID:25741868|PMID:26436113|PMID:27391121|PMID:27761245|PMID:28004182|PMID:28492532|PMID:30392784|PMID:31316545 11723105 CDK5RAP2 CDK5 regulatory subunit associated protein 2 gene DOID:1059 intellectual disability ISO RGD:1347674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11723105 CDK5RAP2 CDK5 regulatory subunit associated protein 2 gene DOID:10907 microcephaly ISO RGD:1347674 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive PMID:18414213|PMID:20301772|PMID:25741868|PMID:28492532|PMID:32581362 11723105 CDK5RAP2 CDK5 regulatory subunit associated protein 2 gene DOID:12270 coloboma ISO RGD:1347674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:28492532 11723105 CDK5RAP2 CDK5 regulatory subunit associated protein 2 gene DOID:630 genetic disease ISO RGD:1347674 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15793586|PMID:17576681|PMID:18414213|PMID:25741868|PMID:27761245|PMID:28492532|PMID:30392784|PMID:9536098 11723105 CDK5RAP2 CDK5 regulatory subunit associated protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1347674 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11723149 YTHDC1 YTH N6-methyladenosine RNA binding protein C1 gene DOID:630 genetic disease ISO RGD:732940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11723149 YTHDC1 YTH N6-methyladenosine RNA binding protein C1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:732940 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11723174 KCNQ5 potassium voltage-gated channel subfamily Q member 5 gene DOID:0080237 autosomal dominant intellectual developmental disorder 46 ISO RGD:1351630 D RGD:7240710 20190315 OMIM 11723174 KCNQ5 potassium voltage-gated channel subfamily Q member 5 gene DOID:0080237 autosomal dominant intellectual developmental disorder 46 ISO RGD:1351630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 46 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 46 PMID:25741868|PMID:28492532|PMID:28669405 11723174 KCNQ5 potassium voltage-gated channel subfamily Q member 5 gene DOID:10283 prostate cancer ISO RGD:1351630 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 11723174 KCNQ5 potassium voltage-gated channel subfamily Q member 5 gene DOID:1059 intellectual disability ISO RGD:1351630 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 11723174 KCNQ5 potassium voltage-gated channel subfamily Q member 5 gene DOID:11830 myopia ISO RGD:1351630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 11723174 KCNQ5 potassium voltage-gated channel subfamily Q member 5 gene DOID:1826 epilepsy ISO RGD:1351630 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11723174 KCNQ5 potassium voltage-gated channel subfamily Q member 5 gene DOID:3659 sialuria ISO RGD:1351630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 11723174 KCNQ5 potassium voltage-gated channel subfamily Q member 5 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1351630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28189443 11723174 KCNQ5 potassium voltage-gated channel subfamily Q member 5 gene DOID:630 genetic disease ISO RGD:1351630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18004376|PMID:25741868|PMID:25741879|PMID:27602407|PMID:28492532|PMID:28669405 11723174 KCNQ5 potassium voltage-gated channel subfamily Q member 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1351630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741879 11723195 GATA6 GATA binding protein 6 gene DOID:0050651 atrioventricular septal defect ISO RGD:735650 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11723195 GATA6 GATA binding protein 6 gene DOID:0050861 colorectal adenocarcinoma severity ISO RGD:735650 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:24452072|REF_RGD_ID:13208874 11723195 GATA6 GATA binding protein 6 gene DOID:0050877 pancreatic agenesis ISO RGD:735650 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22158542 11723195 GATA6 GATA binding protein 6 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:735650 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 11723195 GATA6 GATA binding protein 6 gene DOID:0110114 atrial heart septal defect 9 ISO RGD:735650 D RGD:7240710 20180130 OMIM 11723195 GATA6 GATA binding protein 6 gene DOID:0110114 atrial heart septal defect 9 ISO RGD:735650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect 9 PMID:20631719|PMID:25741868|PMID:28492532 11723195 GATA6 GATA binding protein 6 gene DOID:0111733 pancreatic hypoplasia-diabetes-congenital heart disease syndrome ISO RGD:735650 D RGD:7240710 20180130 OMIM 11723195 GATA6 GATA binding protein 6 gene DOID:0111733 pancreatic hypoplasia-diabetes-congenital heart disease syndrome ISO RGD:735650 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome PMID:19666519|PMID:20581743|PMID:22158542|PMID:22962692|PMID:24385578|PMID:25741868|PMID:31006513|PMID:8071961 11723195 GATA6 GATA binding protein 6 gene DOID:1059 intellectual disability ISO RGD:735650 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11723195 GATA6 GATA binding protein 6 gene DOID:1657 ventricular septal defect ISO RGD:735650 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.D404Y (human) PMID:23020118|REF_RGD_ID:13208873 11723195 GATA6 GATA binding protein 6 gene DOID:1657 ventricular septal defect ISO RGD:735650 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G220S (human) PMID:22407241|REF_RGD_ID:13208872 11723195 GATA6 GATA binding protein 6 gene DOID:1682 congenital heart disease ISO RGD:735650 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.S184N (human) PMID:20631719|REF_RGD_ID:13208832 11723195 GATA6 GATA binding protein 6 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:2666 D RGD:9068941 20220512 RGD mRNA:decreased expression:heart (rat) PMID:18280291|REF_RGD_ID:9068407 11723195 GATA6 GATA binding protein 6 gene DOID:4927 Klatskin's tumor sexual_dimorphism ISO RGD:735650 D RGD:9068941 20210430 RGD DNA:mutations PMID:33387086|REF_RGD_ID:126848756 11723195 GATA6 GATA binding protein 6 gene DOID:630 genetic disease ISO RGD:735650 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27756709|PMID:28492532|PMID:28518168|PMID:28659821|PMID:32461654 11723195 GATA6 GATA binding protein 6 gene DOID:6419 tetralogy of Fallot ISO RGD:735650 D RGD:7240710 20180130 OMIM 11723195 GATA6 GATA binding protein 6 gene DOID:6419 tetralogy of Fallot ISO RGD:735650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:20581743|PMID:20631719|PMID:25741868|PMID:28492532|PMID:29389947 11723195 GATA6 GATA binding protein 6 gene DOID:6432 pulmonary hypertension ISO RGD:2666 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung PMID:19842842|REF_RGD_ID:2314194 11723195 GATA6 GATA binding protein 6 gene DOID:6432 pulmonary hypertension ISO RGD:735650 D RGD:9068941 20200609 RGD protein:decreased expression:lung, arteriole, venule (human) PMID:23583651|REF_RGD_ID:13208869 11723195 GATA6 GATA binding protein 6 gene DOID:6432 pulmonary hypertension ISO RGD:735651 D RGD:9068941 20200609 RGD PMID:23583651|REF_RGD_ID:13208869 11723195 GATA6 GATA binding protein 6 gene DOID:674 cleft palate ISO RGD:735651 D RGD:9068941 20200609 RGD protein:decreased expression:secondary palatal shelf (mouse) PMID:27391658|REF_RGD_ID:13208933 11723195 GATA6 GATA binding protein 6 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:735650 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:22158542|PMID:24385578|PMID:25741868 11723195 GATA6 GATA binding protein 6 gene DOID:9003397 Atrioventricular Septal Defect 5 ISO RGD:735650 D RGD:7240710 20180130 OMIM 11723195 GATA6 GATA binding protein 6 gene DOID:9003397 Atrioventricular Septal Defect 5 ISO RGD:735650 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect 5 PMID:17576681|PMID:18414213|PMID:19666519|PMID:20581743|PMID:20631719|PMID:22158542|PMID:22318994|PMID:22750565|PMID:23223019|PMID:24310933|PMID:25706805|PMID:25741868|PMID:27756709|PMID:28381408|PMID:28492532|PMID:28518168|PMID:28659821|PMID:28991257|PMID:29101065|PMID:31264968|PMID:31271559|PMID:32461654|PMID:9536098 11723195 GATA6 GATA binding protein 6 gene DOID:9003752 Persistent Truncus Arteriosus ISO RGD:735650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Persistent truncus arteriosus PMID:19666519 11723195 GATA6 GATA binding protein 6 gene DOID:9005172 Lung Neoplasms ISO RGD:735650 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16271038 11723195 GATA6 GATA binding protein 6 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735650 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31190750 11723195 GATA6 GATA binding protein 6 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:735650 D RGD:7240710 20180530 OMIM 11723195 GATA6 GATA binding protein 6 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:735650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:25741868|PMID:28492532 11723195 GATA6 GATA binding protein 6 gene DOID:9007908 Aortic Coarctation ISO RGD:735650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Midaortic syndrome PMID:29483232 11723195 GATA6 GATA binding protein 6 gene DOID:9008217 Hemorrhage ISO RGD:735650 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31190750 11723195 GATA6 GATA binding protein 6 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:735650 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18280291 11723195 GATA6 GATA binding protein 6 gene DOID:9206 Barrett's esophagus disease_progression ISO RGD:735650 D RGD:9068941 20200609 RGD protein:increased expression: esophagus squamous epithelium (human) PMID:25445407|REF_RGD_ID:13208870 11723195 GATA6 GATA binding protein 6 gene DOID:9351 diabetes mellitus ISO RGD:735650 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:18414213|PMID:20581743|PMID:22158542|PMID:23223019|PMID:24310933|PMID:25706805|PMID:25741868|PMID:28492532|PMID:31271559 11723195 GATA6 GATA binding protein 6 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735650 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus PMID:22158542|PMID:23223019|PMID:25706805|PMID:25741868|PMID:28492532|PMID:31271559 11723207 MON1A MON1 homolog A, secretory trafficking associated gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1601843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 11723207 MON1A MON1 homolog A, secretory trafficking associated gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1601843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 11723207 MON1A MON1 homolog A, secretory trafficking associated gene DOID:2351 iron metabolism disease ISO RGD:1601843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17632513 11723207 MON1A MON1 homolog A, secretory trafficking associated gene DOID:630 genetic disease ISO RGD:1601843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11723207 MON1A MON1 homolog A, secretory trafficking associated gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1601843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11723207 MON1A MON1 homolog A, secretory trafficking associated gene DOID:9562 primary ciliary dyskinesia ISO RGD:1601843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11723218 IL12RB2 interleukin 12 receptor subunit beta 2 gene DOID:1059 intellectual disability ISO RGD:1346577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11723218 IL12RB2 interleukin 12 receptor subunit beta 2 gene DOID:630 genetic disease ISO RGD:1346577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11723218 IL12RB2 interleukin 12 receptor subunit beta 2 gene DOID:9000998 Brain Injuries ISO RGD:1346577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 11723235 UBALD2 UBA like domain containing 2 gene DOID:630 genetic disease ISO RGD:1605547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11723241 TEP1 telomerase associated protein 1 gene DOID:10534 stomach cancer susceptibility ISO RGD:736009 D RGD:9068941 20220602 RGD DNA:SNPs:introns:rs1713423,rs1760893(human) PMID:27305982|REF_RGD_ID:152977750 11723241 TEP1 telomerase associated protein 1 gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:736009 D RGD:9068941 20220602 RGD mRNA:increased expression:hepatocyte,biliary epithelium. PMID:10498642|REF_RGD_ID:152977753 11723241 TEP1 telomerase associated protein 1 gene DOID:630 genetic disease ISO RGD:736009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11723241 TEP1 telomerase associated protein 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736009 D RGD:9068941 20220602 RGD associated with hepatitis B;DNA:SNPs: :rs1713449,rs1760898, rs872072 (human) PMID:23907815|REF_RGD_ID:152975963 11723241 TEP1 telomerase associated protein 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:736009 D RGD:9068941 20220602 RGD DNA:SNP:intron:rs1760893(human) PMID:27305982|REF_RGD_ID:152977750 11723241 TEP1 telomerase associated protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:736009 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11323394 11723300 DDX60L DExD/H-box 60 like gene DOID:10283 prostate cancer ISO RGD:2289775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11723300 DDX60L DExD/H-box 60 like gene DOID:630 genetic disease ISO RGD:2289775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11723342 SLC15A3 solute carrier family 15 member 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1348958 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11723342 SLC15A3 solute carrier family 15 member 3 gene DOID:1059 intellectual disability ISO RGD:1348958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11723342 SLC15A3 solute carrier family 15 member 3 gene DOID:630 genetic disease ISO RGD:1348958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11723342 SLC15A3 solute carrier family 15 member 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11723354 FLT3 fms related receptor tyrosine kinase 3 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1321715 D RGD:9068941 20220825 MouseDO OMIM:607785 11723354 FLT3 fms related receptor tyrosine kinase 3 gene DOID:0050861 colorectal adenocarcinoma severity ISO RGD:1321714 D RGD:9068941 20210723 RGD DNA:polymorphisms:multiple PMID:33075166|REF_RGD_ID:149735513 11723354 FLT3 fms related receptor tyrosine kinase 3 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1321714 D RGD:9068941 20210723 RGD mRNA:decreased expression:oral epithelium (human) PMID:32048621|REF_RGD_ID:149735374 11723354 FLT3 fms related receptor tyrosine kinase 3 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1321714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia PMID:22417203 11723354 FLT3 fms related receptor tyrosine kinase 3 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1321714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17454189|PMID:24160850|PMID:26285909 11723354 FLT3 fms related receptor tyrosine kinase 3 gene DOID:0060704 lymphoproliferative syndrome ISO RGD:1321715 D RGD:9068941 20200609 RGD PMID:15718420|REF_RGD_ID:11049481 11723354 FLT3 fms related receptor tyrosine kinase 3 gene DOID:0060903 thrombosis ISO RGD:1321714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16932337 11723354 FLT3 fms related receptor tyrosine kinase 3 gene DOID:0070004 myeloid neoplasm ISO RGD:1321715 D RGD:9068941 20200609 RGD PMID:17936561|REF_RGD_ID:11049465 11723354 FLT3 fms related receptor tyrosine kinase 3 gene DOID:0080600 COVID-19 ISO RGD:1321714 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11723354 FLT3 fms related receptor tyrosine kinase 3 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1321714 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:bone marrow: PMID:8562934|REF_RGD_ID:11049466 11723354 FLT3 fms related receptor tyrosine kinase 3 gene DOID:0081082 acute myelomonocytic leukemia treatment ISO RGD:1321714 D RGD:9068941 20200609 RGD PMID:22187040|REF_RGD_ID:11049503 11723354 FLT3 fms related receptor tyrosine kinase 3 gene DOID:10283 prostate cancer ISO RGD:1321714 D RGD:9068941 20200609 RGD PMID:14977818|REF_RGD_ID:2302209 11723354 FLT3 fms related receptor tyrosine kinase 3 gene DOID:4971 myelofibrosis ISO RGD:1321714 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:multiple: PMID:21487043|REF_RGD_ID:11049484 11723354 FLT3 fms related receptor tyrosine kinase 3 gene DOID:630 genetic disease ISO RGD:1321714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11723354 FLT3 fms related receptor tyrosine kinase 3 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1321714 D RGD:9068941 20210723 RGD human cells in mouse model PMID:27511526|REF_RGD_ID:149735514 11723354 FLT3 fms related receptor tyrosine kinase 3 gene DOID:8692 myeloid leukemia ISO RGD:1321715 D RGD:9068941 20200609 RGD PMID:17936561|REF_RGD_ID:11049465 11723354 FLT3 fms related receptor tyrosine kinase 3 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1321715 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:14566827|REF_RGD_ID:2302210 11723354 FLT3 fms related receptor tyrosine kinase 3 gene DOID:9000647 Acute Erythroleukemia ISO RGD:1321714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926971 11723354 FLT3 fms related receptor tyrosine kinase 3 gene DOID:9001039 Leukocytosis ISO RGD:1321714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27099147|PMID:27725143 11723354 FLT3 fms related receptor tyrosine kinase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321715 D RGD:9068941 20200609 RGD PMID:10786663|REF_RGD_ID:2302208 11723354 FLT3 fms related receptor tyrosine kinase 3 gene DOID:9002457 Experimental Arthritis ISO RGD:61308 D RGD:9068941 20200609 RGD PMID:10857786|REF_RGD_ID:61066 11723354 FLT3 fms related receptor tyrosine kinase 3 gene DOID:9002720 Splenomegaly ISO RGD:1321714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 11723354 FLT3 fms related receptor tyrosine kinase 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1321715 D RGD:9068941 20200609 RGD PMID:10498246|REF_RGD_ID:2302211 11723354 FLT3 fms related receptor tyrosine kinase 3 gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:1321714 D RGD:9068941 20201218 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:26541527|REF_RGD_ID:40902860 11723354 FLT3 fms related receptor tyrosine kinase 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1321714 D RGD:7240710 20180130 OMIM 11723354 FLT3 fms related receptor tyrosine kinase 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1321714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, reduced survival in, somatic PMID:11091200|PMID:11290608|PMID:11442493|PMID:12384447|PMID:14604974|PMID:14670924|PMID:14737077|PMID:15256420|PMID:15374878|PMID:15625552|PMID:15667533|PMID:15863200|PMID:16091740|PMID:16371029|PMID:16410449|PMID:16573742|PMID:16857985|PMID:16990784|PMID:17047150|PMID:17387224|PMID:17606455|PMID:17889720|PMID:17942876|PMID:19602710|PMID:19657110|PMID:19840437|PMID:20733134|PMID:22368270|PMID:22504183|PMID:22504184|PMID:22504185|PMID:22504186|PMID:23261068|PMID:23321257|PMID:23430109|PMID:23714533|PMID:23783394|PMID:23878140|PMID:24046014|PMID:24619500|PMID:25157968 11723354 FLT3 fms related receptor tyrosine kinase 3 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1321714 D RGD:9068941 20200609 RGD DNA:duplication mutation:cds: PMID:16642044|REF_RGD_ID:11049467 11723354 FLT3 fms related receptor tyrosine kinase 3 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1321714 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:23969938|REF_RGD_ID:11049482 11723354 FLT3 fms related receptor tyrosine kinase 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321714 D RGD:9068941 20210723 RGD mRNA:decreased expression:gastrointestinal system smooth muscle (human) PMID:21171987|REF_RGD_ID:149735515 11723354 FLT3 fms related receptor tyrosine kinase 3 gene DOID:9538 multiple myeloma ISO RGD:1321714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11723354 FLT3 fms related receptor tyrosine kinase 3 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1321714 D RGD:7240710 20230505 OMIM 11723354 FLT3 fms related receptor tyrosine kinase 3 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1321714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute lymphoid leukemia PMID:11290608|PMID:11442493|PMID:14604974|PMID:14670924|PMID:15256420|PMID:16857985|PMID:17606455|PMID:17889720|PMID:19657110|PMID:20733134|PMID:22368270|PMID:22504183|PMID:22504184|PMID:23261068|PMID:23321257|PMID:23430109|PMID:23714533|PMID:23783394|PMID:24046014|PMID:25157968 11723382 HPGDS hematopoietic prostaglandin D synthase gene DOID:409 liver disease ISO RGD:732845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11723382 HPGDS hematopoietic prostaglandin D synthase gene DOID:630 genetic disease ISO RGD:732845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11723382 HPGDS hematopoietic prostaglandin D synthase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11723382 HPGDS hematopoietic prostaglandin D synthase gene DOID:9002265 Kidney Neoplasms ISO RGD:732845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 11723382 HPGDS hematopoietic prostaglandin D synthase gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:732845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23666239 11723420 FREM3 FRAS1 related extracellular matrix 3 gene DOID:1470 major depressive disorder ISO RGD:1343703 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26441752 11723420 FREM3 FRAS1 related extracellular matrix 3 gene DOID:630 genetic disease ISO RGD:1343703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11723431 ADGRF1 adhesion G protein-coupled receptor F1 gene DOID:630 genetic disease ISO RGD:1321097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11723453 DCC DCC netrin 1 receptor gene DOID:0060041 autism spectrum disorder ISO RGD:731288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11723453 DCC DCC netrin 1 receptor gene DOID:1059 intellectual disability ISO RGD:731288 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11723453 DCC DCC netrin 1 receptor gene DOID:1107 esophageal carcinoma ISO RGD:731288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma, somatic PMID:8187090 11723453 DCC DCC netrin 1 receptor gene DOID:13938 amenorrhea ISO RGD:731288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:24808016|PMID:32870266 11723453 DCC DCC netrin 1 receptor gene DOID:1520 colon carcinoma ISO RGD:731288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:8188295 11723453 DCC DCC netrin 1 receptor gene DOID:1909 melanoma ISO RGD:731288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842228 11723453 DCC DCC netrin 1 receptor gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:731288 D RGD:9068941 20200609 RGD DNA:deletions:multiple (human) PMID:8187090|REF_RGD_ID:734879 11723453 DCC DCC netrin 1 receptor gene DOID:4961 bone marrow disease ISO RGD:731288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone marrow hypocellularity PMID:25741868 11723453 DCC DCC netrin 1 receptor gene DOID:5041 esophageal cancer ISO RGD:731288 D RGD:7240710 20190315 OMIM 11723453 DCC DCC netrin 1 receptor gene DOID:630 genetic disease ISO RGD:731288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28250454|PMID:28492532 11723453 DCC DCC netrin 1 receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:2492 D RGD:9068941 20200609 RGD PMID:16998900|REF_RGD_ID:2314373 11723453 DCC DCC netrin 1 receptor gene DOID:9000117 Esophageal Neoplasms ISO RGD:731288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11723453 DCC DCC netrin 1 receptor gene DOID:9001668 Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 ISO RGD:731288 D RGD:7240710 20190315 OMIM 11723453 DCC DCC netrin 1 receptor gene DOID:9001668 Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 ISO RGD:731288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2 PMID:25741868|PMID:28250456|PMID:28492532 11723453 DCC DCC netrin 1 receptor gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:731288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:24808016|PMID:28250454 11723453 DCC DCC netrin 1 receptor gene DOID:9002570 Mirror Movements 1 ISO RGD:731288 D RGD:7240710 20180130 OMIM 11723453 DCC DCC netrin 1 receptor gene DOID:9002570 Mirror Movements 1 ISO RGD:731288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mirror movements 1 PMID:19127048|PMID:20431009|PMID:21681106|PMID:24808016|PMID:25741868|PMID:28250454|PMID:28492532|PMID:31697046|PMID:32870266 11723453 DCC DCC netrin 1 receptor gene DOID:9004009 Reperfusion Injury ISO RGD:2492 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17574219|REF_RGD_ID:2314372 11723453 DCC DCC netrin 1 receptor gene DOID:9004787 Familial Horizontal Gaze Palsy with Progressive Scoliosis ISO RGD:731288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28250456 11723453 DCC DCC netrin 1 receptor gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:2492 D RGD:9068941 20200609 RGD PMID:16337279|REF_RGD_ID:2314374 11723453 DCC DCC netrin 1 receptor gene DOID:9007462 Partial Agenesis of Corpus Callosum ISO RGD:731288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Partial agenesis of the corpus callosum PMID:25741868 11723453 DCC DCC netrin 1 receptor gene DOID:9008443 Colorectal Neoplasms ISO RGD:731288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15365072 11723453 DCC DCC netrin 1 receptor gene DOID:9256 colorectal cancer ISO RGD:731288 D RGD:7240710 20200226 OMIM 11723453 DCC DCC netrin 1 receptor gene DOID:9256 colorectal cancer ISO RGD:731288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:25741868 11723486 C1QTNF6 C1q and TNF related 6 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11723486 C1QTNF6 C1q and TNF related 6 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1316024 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11723486 C1QTNF6 C1q and TNF related 6 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1316024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11723486 C1QTNF6 C1q and TNF related 6 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1316024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11723486 C1QTNF6 C1q and TNF related 6 gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:1307057 D RGD:9068941 20230330 RGD PMID:35322553|REF_RGD_ID:242905190 11723486 C1QTNF6 C1q and TNF related 6 gene DOID:630 genetic disease ISO RGD:1316024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11723486 C1QTNF6 C1q and TNF related 6 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1316024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18978792 11723501 THRB thyroid hormone receptor beta gene DOID:0060224 atrial fibrillation ISO RGD:734423 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11723501 THRB thyroid hormone receptor beta gene DOID:0111374 selective pituitary thyroid hormone resistance ISO RGD:734423 D RGD:7240710 20180130 OMIM 11723501 THRB thyroid hormone receptor beta gene DOID:0111374 selective pituitary thyroid hormone resistance ISO RGD:734423 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Selective pituitary resistance to thyroid hormone PMID:10022392|PMID:11518118|PMID:1159077|PMID:12554782|PMID:1358935|PMID:1400873|PMID:15802373|PMID:16464943|PMID:16804041|PMID:20237409|PMID:21703645|PMID:21795843|PMID:21871106|PMID:22551329|PMID:24174637|PMID:25040256|PMID:25502991|PMID:25741868|PMID:26041374|PMID:26467025|PMID:28492532|PMID:30148208|PMID:31341516|PMID:32635414|PMID:33353459|PMID:34382419|PMID:7593433|PMID:7838159|PMID:8013151|PMID:8040303|PMID:8200958|PMID:8381821|PMID:8384535|PMID:8496318|PMID:8514853|PMID:8563471|PMID:8674808|PMID:8889584|PMID:8958790|PMID:9086567|PMID:9140079|PMID:9141558 11723501 THRB thyroid hormone receptor beta gene DOID:10283 prostate cancer ISO RGD:734423 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity (human) PMID:18336598|REF_RGD_ID:2315095 11723501 THRB thyroid hormone receptor beta gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:737557 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 11723501 THRB thyroid hormone receptor beta gene DOID:11633 thyroid hormone resistance syndrome ISO RGD:734423 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Generalized resistance to thyroid hormone | ClinVar Annotator: match by term: Thyroid hormone resistance syndrome PMID:1324420|PMID:1400869|PMID:1548332|PMID:20808683|PMID:22947347|PMID:25040256|PMID:25741868|PMID:26273722|PMID:26467025|PMID:28235578|PMID:30430796|PMID:30497070|PMID:8013151|PMID:8828460|PMID:9804773 11723501 THRB thyroid hormone receptor beta gene DOID:11633 thyroid hormone resistance syndrome susceptibility ISO RGD:734423 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.I276L (human) PMID:15913586|REF_RGD_ID:1601659 11723501 THRB thyroid hormone receptor beta gene DOID:1612 breast cancer ISO RGD:3858 D RGD:9068941 20200609 RGD PMID:20082849|REF_RGD_ID:2315977 11723501 THRB thyroid hormone receptor beta gene DOID:1612 breast cancer ISO RGD:734423 D RGD:9068941 20200609 RGD PMID:12082618|REF_RGD_ID:2315096 11723501 THRB thyroid hormone receptor beta gene DOID:3459 breast carcinoma ISO RGD:734423 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity (human) PMID:2573734|REF_RGD_ID:2315100 11723501 THRB thyroid hormone receptor beta gene DOID:3962 thyroid gland follicular carcinoma ISO RGD:734423 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27440272 11723501 THRB thyroid hormone receptor beta gene DOID:3962 thyroid gland follicular carcinoma ISO RGD:737557 D RGD:9068941 20220825 MouseDO OMIM:188470 11723501 THRB thyroid hormone receptor beta gene DOID:4450 renal cell carcinoma ISO RGD:734423 D RGD:9068941 20200609 RGD DNA:mutations (human) PMID:11756220|REF_RGD_ID:2315097 11723501 THRB thyroid hormone receptor beta gene DOID:630 genetic disease ISO RGD:734423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10918302|PMID:1314846|PMID:26467025|PMID:8514853 11723501 THRB thyroid hormone receptor beta gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:734423 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity (human) PMID:11483913|REF_RGD_ID:2315099 11723501 THRB thyroid hormone receptor beta gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:734423 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity (human) PMID:9462708|REF_RGD_ID:2289906 11723501 THRB thyroid hormone receptor beta gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3858 D RGD:9068941 20200609 RGD associated with Myocardial Infarction;protein:decreased expression:heart PMID:17389455|REF_RGD_ID:2314321 11723501 THRB thyroid hormone receptor beta gene DOID:9006576 Generalized Thyroid Hormone Resistance, Autosomal Recessive ISO RGD:734423 D RGD:7240710 20180130 OMIM 11723501 THRB thyroid hormone receptor beta gene DOID:9006576 Generalized Thyroid Hormone Resistance, Autosomal Recessive ISO RGD:734423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid hormone resistance, generalized, autosomal recessive PMID:1653889|PMID:1682340|PMID:1991834|PMID:22319036|PMID:24393243|PMID:25135573|PMID:26467025|PMID:4163616|PMID:8013151 11723501 THRB thyroid hormone receptor beta gene DOID:9007743 Generalized Thyroid Hormone Resistance, Autosomal Dominant ISO RGD:734423 D RGD:7240710 20180130 OMIM 11723501 THRB thyroid hormone receptor beta gene DOID:9007743 Generalized Thyroid Hormone Resistance, Autosomal Dominant ISO RGD:734423 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thyroid hormone resistance, generalized, autosomal dominant PMID:10350052|PMID:10487671|PMID:10852467|PMID:10918302|PMID:11167935|PMID:11518118|PMID:1159077|PMID:11701667|PMID:11704998|PMID:11734632|PMID:12201835|PMID:12356724|PMID:12554782|PMID:1314846|PMID:1324420|PMID:1358935|PMID:1400869|PMID:1400873|PMID:15598685|PMID:1563081|PMID:15771554|PMID:15802373|PMID:15815068|PMID:1587388|PMID:16099238|PMID:1619012|PMID:1653889|PMID:1661299|PMID:1677564|PMID:16804041|PMID:1682340|PMID:17610520|PMID:18363280|PMID:1846005|PMID:18844476|PMID:19268523|PMID:19378427|PMID:19439650|PMID:1973914|PMID:1991834|PMID:20050372|PMID:20237409|PMID:21340159|PMID:2153155|PMID:21622532|PMID:21703645|PMID:21760978|PMID:21795843|PMID:21871106|PMID:22319036|PMID:22551329|PMID:22947347|PMID:23457315|PMID:23633200|PMID:23926384|PMID:24174637|PMID:24393243|PMID:24722129|PMID:25040256|PMID:25063548|PMID:2510172|PMID:25135573|PMID:25502991|PMID:2555064|PMID:25738994|PMID:25741868|PMID:25867808|PMID:25905418|PMID:26041374|PMID:26273722|PMID:26425626|PMID:26467025|PMID:27168936|PMID:27980311|PMID:28235578|PMID:28257829|PMID:28492532|PMID:2879243|PMID:28938413|PMID:29262478|PMID:30148208|PMID:30430796|PMID:30497070|PMID:30672388|PMID:30707410|PMID:30976996|PMID:31341516|PMID:32581500|PMID:32635414|PMID:33353459|PMID:33768782|PMID:34382419|PMID:3571851|PMID:7200565|PMID:7528740|PMID:7593433|PMID:7616549|PMID:7833659|PMID:7838159|PMID:8013151|PMID:8040303|PMID:8175986|PMID:8200958|PMID:8319599|PMID:8381821|PMID:8384535|PMID:8496318|PMID:8514853|PMID:8535442|PMID:8563471|PMID:8664910|PMID:8670802|PMID:8674808|PMID:8786093|PMID:8828460|PMID:8875752|PMID:8889584|PMID:8958790|PMID:9001191|PMID:9086567|PMID:9086569|PMID:9092799|PMID:9100577|PMID:9140079|PMID:9141558|PMID:9315673|PMID:9605924|PMID:9707435|PMID:9804773 11723501 THRB thyroid hormone receptor beta gene DOID:9008731 Craniofacial Abnormalities ISO RGD:734423 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10660344 11723501 THRB thyroid hormone receptor beta gene DOID:9009073 Diaphragmatic Hernia ISO RGD:734423 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11685700 11723537 CES5A carboxylesterase 5A gene DOID:630 genetic disease ISO RGD:1606422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11723554 LINC00649 long intergenic non-protein coding RNA 649 gene DOID:9005698 ZTTK Syndrome ISO RGD:6893148 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 11723566 CALHM6 calcium homeostasis modulator family member 6 gene DOID:0060163 body dysmorphic disorder ISO RGD:1605771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 11723566 CALHM6 calcium homeostasis modulator family member 6 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1605771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 11723566 CALHM6 calcium homeostasis modulator family member 6 gene DOID:1059 intellectual disability ISO RGD:1605771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 11723566 CALHM6 calcium homeostasis modulator family member 6 gene DOID:10907 microcephaly ISO RGD:1605771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 11723566 CALHM6 calcium homeostasis modulator family member 6 gene DOID:1826 epilepsy ISO RGD:1605771 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11723566 CALHM6 calcium homeostasis modulator family member 6 gene DOID:9000495 Tremor ISO RGD:1605771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 11723572 ALG9 ALG9 alpha-1,2-mannosyltransferase gene DOID:0050770 polycystic liver disease ISO RGD:1342764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:25741868|PMID:26467025|PMID:27391121|PMID:28492532|PMID:31395617 11723572 ALG9 ALG9 alpha-1,2-mannosyltransferase gene DOID:0080322 polycystic kidney disease ISO RGD:1342764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease, adult type PMID:31395617 11723572 ALG9 ALG9 alpha-1,2-mannosyltransferase gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1342764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 11723572 ALG9 ALG9 alpha-1,2-mannosyltransferase gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:1342764 D RGD:7240710 20180130 OMIM 11723572 ALG9 ALG9 alpha-1,2-mannosyltransferase gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:1342764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il PMID:15148656|PMID:15945070|PMID:16199547|PMID:17576681|PMID:25741868|PMID:25966638|PMID:26453364|PMID:26467025|PMID:27391121|PMID:28492532|PMID:31395617|PMID:35839600|PMID:9536098 11723572 ALG9 ALG9 alpha-1,2-mannosyltransferase gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1342764 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 11723572 ALG9 ALG9 alpha-1,2-mannosyltransferase gene DOID:1059 intellectual disability ISO RGD:1342764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11723572 ALG9 ALG9 alpha-1,2-mannosyltransferase gene DOID:12704 ataxia telangiectasia ISO RGD:1342764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11723572 ALG9 ALG9 alpha-1,2-mannosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1342764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:28492532 11723572 ALG9 ALG9 alpha-1,2-mannosyltransferase gene DOID:630 genetic disease ISO RGD:1342764 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11723572 ALG9 ALG9 alpha-1,2-mannosyltransferase gene DOID:9001306 Gillessen-Kaesbach-Nishimura Dysplasia ISO RGD:1342764 D RGD:7240710 20190315 OMIM 11723572 ALG9 ALG9 alpha-1,2-mannosyltransferase gene DOID:9001306 Gillessen-Kaesbach-Nishimura Dysplasia ISO RGD:1342764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE, WITH MICROBRACHYCEPHALY, HYPERTELORISM, AND BRACHYMELIA PMID:25741868|PMID:25966638|PMID:26467025|PMID:27391121|PMID:28492532|PMID:31395617 11723572 ALG9 ALG9 alpha-1,2-mannosyltransferase gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1342764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease PMID:25741868|PMID:26467025|PMID:27391121|PMID:28492532|PMID:31395617 11723572 ALG9 ALG9 alpha-1,2-mannosyltransferase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1342764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11723572 ALG9 ALG9 alpha-1,2-mannosyltransferase gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1342764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 11723664 FBXL7 F-box and leucine rich repeat protein 7 gene DOID:630 genetic disease ISO RGD:1314074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11723664 FBXL7 F-box and leucine rich repeat protein 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11723675 ALOXE3 arachidonate lipoxygenase 3 gene DOID:0050336 hypophosphatemia ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypophosphatemia PMID:25741868 11723675 ALOXE3 arachidonate lipoxygenase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1314765 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11723675 ALOXE3 arachidonate lipoxygenase 3 gene DOID:0060249 scoliosis ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868 11723675 ALOXE3 arachidonate lipoxygenase 3 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1314765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:11398099|PMID:16116617|PMID:19131948|PMID:19890349|PMID:22622417|PMID:24033266|PMID:24824130|PMID:25741868|PMID:25998749|PMID:26274329|PMID:26370990|PMID:26578203|PMID:26762237|PMID:27025581|PMID:28492532|PMID:29130490|PMID:29935003|PMID:30270455|PMID:30578701|PMID:31168818|PMID:33435499|PMID:33786896 11723675 ALOXE3 arachidonate lipoxygenase 3 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 ISO RGD:1314765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21739938 11723675 ALOXE3 arachidonate lipoxygenase 3 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 susceptibility ISO RGD:1314765 D RGD:9068941 20200609 RGD PMID:11773004|REF_RGD_ID:1599073 11723675 ALOXE3 arachidonate lipoxygenase 3 gene DOID:0060710 autosomal recessive congenital ichthyosis 2 ISO RGD:1314765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 PMID:16116617|PMID:19131948|PMID:25741868|PMID:26370990|PMID:26762237|PMID:30578701|PMID:31046801|PMID:31168818 11723675 ALOXE3 arachidonate lipoxygenase 3 gene DOID:0060711 autosomal recessive congenital ichthyosis 3 ISO RGD:1314765 D RGD:7240710 20180130 OMIM 11723675 ALOXE3 arachidonate lipoxygenase 3 gene DOID:0060711 autosomal recessive congenital ichthyosis 3 ISO RGD:1314765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 PMID:11398099|PMID:11773004|PMID:16116617|PMID:17576681|PMID:19131948|PMID:19890349|PMID:21668430|PMID:22622417|PMID:24033266|PMID:24824130|PMID:25741868|PMID:25998749|PMID:26274329|PMID:26370990|PMID:26578203|PMID:26762237|PMID:27025581|PMID:28492532|PMID:30270455|PMID:30578701|PMID:31046801|PMID:31642606|PMID:32978145|PMID:33435499|PMID:33786896|PMID:9536098 11723675 ALOXE3 arachidonate lipoxygenase 3 gene DOID:0080006 bone development disease ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 11723675 ALOXE3 arachidonate lipoxygenase 3 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1314765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11723675 ALOXE3 arachidonate lipoxygenase 3 gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:1314765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:28492532 11723675 ALOXE3 arachidonate lipoxygenase 3 gene DOID:1059 intellectual disability ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 11723675 ALOXE3 arachidonate lipoxygenase 3 gene DOID:10907 microcephaly ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Progressive microcephaly PMID:25741868 11723675 ALOXE3 arachidonate lipoxygenase 3 gene DOID:11502 mitral valve insufficiency ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitral regurgitation PMID:25741868 11723675 ALOXE3 arachidonate lipoxygenase 3 gene DOID:12177 common variable immunodeficiency ISO RGD:1314765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11723675 ALOXE3 arachidonate lipoxygenase 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1314765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11723675 ALOXE3 arachidonate lipoxygenase 3 gene DOID:1697 ichthyosis ISO RGD:1314765 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ichthyosis PMID:24824130|PMID:26274329|PMID:26578203|PMID:30270455 11723675 ALOXE3 arachidonate lipoxygenase 3 gene DOID:2340 craniosynostosis ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brachycephaly PMID:25741868 11723675 ALOXE3 arachidonate lipoxygenase 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1314765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11723675 ALOXE3 arachidonate lipoxygenase 3 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1314765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 11723675 ALOXE3 arachidonate lipoxygenase 3 gene DOID:630 genetic disease ISO RGD:1314765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11723675 ALOXE3 arachidonate lipoxygenase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22919386 11723675 ALOXE3 arachidonate lipoxygenase 3 gene DOID:9003430 Sprengel Deformity ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sprengel's shoulder PMID:25741868 11723675 ALOXE3 arachidonate lipoxygenase 3 gene DOID:9007661 Dwarfism ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Disproportionate short stature PMID:25741868 11723698 NOTCH1 notch receptor 1 gene DOID:0050145 adenoiditis ISO RGD:737367 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Chronic adenoiditis PMID:25741868|PMID:28492532 11723698 NOTCH1 notch receptor 1 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:737367 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:16707600|REF_RGD_ID:1580759 11723698 NOTCH1 notch receptor 1 gene DOID:0050777 Joubert syndrome ISO RGD:737367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11723698 NOTCH1 notch receptor 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:10998 D RGD:9068941 20220204 RGD protein:increased expression:tongue (mouse) PMID:30624777|REF_RGD_ID:151347668 11723698 NOTCH1 notch receptor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737367 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11723698 NOTCH1 notch receptor 1 gene DOID:0060058 lymphoma ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18798262 11723698 NOTCH1 notch receptor 1 gene DOID:0060227 Adams-Oliver syndrome ISO RGD:737367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome PMID:24728327|PMID:25741868|PMID:28492532 11723698 NOTCH1 notch receptor 1 gene DOID:0060249 scoliosis ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17849441 11723698 NOTCH1 notch receptor 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:737367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11723698 NOTCH1 notch receptor 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:737367 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11723698 NOTCH1 notch receptor 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:737367 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11723698 NOTCH1 notch receptor 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:737367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11723698 NOTCH1 notch receptor 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma 11723698 NOTCH1 notch receptor 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:737367 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11723698 NOTCH1 notch receptor 1 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bicuspid aortic valve PMID:24728327|PMID:25741868|PMID:28492532 11723698 NOTCH1 notch receptor 1 gene DOID:0080333 aortic valve disease 1 ISO RGD:737367 D RGD:7240710 20180130 OMIM 11723698 NOTCH1 notch receptor 1 gene DOID:0080333 aortic valve disease 1 ISO RGD:737367 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Aortic valve disease 1 PMID:16025100|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:20007775|PMID:20981092|PMID:21457232|PMID:23578328|PMID:23798201|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:25132448|PMID:25260786|PMID:25326637|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:25963545|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:27760138|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28776427|PMID:28991257|PMID:29641532|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:31624253|PMID:31633846|PMID:31654484|PMID:31866570|PMID:32277046|PMID:32748548|PMID:33110418|PMID:33914609|PMID:33994118|PMID:35101336|PMID:35288444|PMID:9536098 11723698 NOTCH1 notch receptor 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:737367 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11723698 NOTCH1 notch receptor 1 gene DOID:0081097 Rafiq syndrome ISO RGD:737367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11723698 NOTCH1 notch receptor 1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:737367 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:25741868|PMID:26893459|PMID:28492532 11723698 NOTCH1 notch receptor 1 gene DOID:10485 esophageal atresia ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 11723698 NOTCH1 notch receptor 1 gene DOID:10629 microphthalmia ISO RGD:737367 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia PMID:25741868|PMID:26893459|PMID:28492532 11723698 NOTCH1 notch receptor 1 gene DOID:10964 cholesteatoma of middle ear ISO RGD:737367 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cholesteatoma of middle ear PMID:25741868|PMID:27993330|PMID:28492532 11723698 NOTCH1 notch receptor 1 gene DOID:13025 retinopathy of prematurity treatment ISO RGD:3187 D RGD:9068941 20221117 RGD PMID:30652694|REF_RGD_ID:155663485 11723698 NOTCH1 notch receptor 1 gene DOID:1380 endometrial cancer ISO RGD:737367 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:11078798|REF_RGD_ID:2299153 11723698 NOTCH1 notch receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16729972|PMID:17662764|PMID:18593716|PMID:21457232|PMID:24033266|PMID:24728327|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:26188975|PMID:26708639|PMID:26820064|PMID:27854218|PMID:27989580|PMID:28166811|PMID:28387797|PMID:28492532|PMID:30059548|PMID:30609409|PMID:32748548 11723698 NOTCH1 notch receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737367 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16729972|PMID:17662764|PMID:18593716|PMID:21457232|PMID:24033266|PMID:24728327|PMID:25587027|PMID:25741868|PMID:25931334|PMID:26188975|PMID:26708639|PMID:26820064|PMID:27854218|PMID:27989580|PMID:28387797|PMID:28492532|PMID:30609409|PMID:32748548 11723698 NOTCH1 notch receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737367 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16729972|PMID:17662764|PMID:18593716|PMID:21457232|PMID:24033266|PMID:24728327|PMID:25587027|PMID:25741868|PMID:25931334|PMID:26188975|PMID:26708639|PMID:26820064|PMID:27989580|PMID:28387797|PMID:28492532|PMID:30609409|PMID:32748548 11723698 NOTCH1 notch receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737367 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:20007775|PMID:20981092|PMID:21457232|PMID:21642962|PMID:22077063|PMID:22225590|PMID:23040356|PMID:23578328|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26893459|PMID:27854218|PMID:27989580|PMID:28074886|PMID:28166811|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28991257|PMID:29641532|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33914609|PMID:33994118|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098 11723698 NOTCH1 notch receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:20007775|PMID:20981092|PMID:21457232|PMID:21642962|PMID:22077063|PMID:22225590|PMID:23040356|PMID:23578328|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26893459|PMID:27760138|PMID:27854218|PMID:27989580|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28991257|PMID:29641532|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33914609|PMID:33994118|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098 11723698 NOTCH1 notch receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737367 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:20007775|PMID:20981092|PMID:21457232|PMID:21642962|PMID:22077063|PMID:22225590|PMID:23040356|PMID:23578328|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26893459|PMID:27760138|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28991257|PMID:29641532|PMID:29706348|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33914609|PMID:33994118|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098 11723698 NOTCH1 notch receptor 1 gene DOID:14323 Marfan syndrome ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 11723698 NOTCH1 notch receptor 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:737367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 11723698 NOTCH1 notch receptor 1 gene DOID:14757 Ehlers-Danlos syndrome hypermobility type ISO RGD:737367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 PMID:28492532 11723698 NOTCH1 notch receptor 1 gene DOID:1682 congenital heart disease ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:17662764|PMID:24033266|PMID:24728327|PMID:25741868|PMID:28387797|PMID:28492532|PMID:30609409 11723698 NOTCH1 notch receptor 1 gene DOID:1749 squamous cell carcinoma ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27923803 11723698 NOTCH1 notch receptor 1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:10998 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:17297654|REF_RGD_ID:2325328 11723698 NOTCH1 notch receptor 1 gene DOID:182 calcinosis ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22110751 11723698 NOTCH1 notch receptor 1 gene DOID:1826 epilepsy ISO RGD:737367 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11723698 NOTCH1 notch receptor 1 gene DOID:1936 atherosclerosis treatment ISO RGD:10998 D RGD:9068941 20221117 RGD PMID:30909142|REF_RGD_ID:155663380 11723698 NOTCH1 notch receptor 1 gene DOID:2226 myeloproliferative neoplasm ISO RGD:737367 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable PMID:24728327|PMID:25741868|PMID:28492532|PMID:35101336 11723698 NOTCH1 notch receptor 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:3187 D RGD:9068941 20221117 RGD PMID:30258350|REF_RGD_ID:155663419 11723698 NOTCH1 notch receptor 1 gene DOID:255 hemangioma ISO RGD:737367 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hemangioma PMID:25741868 11723698 NOTCH1 notch receptor 1 gene DOID:264 hemangiopericytoma ISO RGD:737367 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:anterior temporal lobe PMID:26951238|REF_RGD_ID:155663351 11723698 NOTCH1 notch receptor 1 gene DOID:3068 glioblastoma ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 11723698 NOTCH1 notch receptor 1 gene DOID:3069 malignant astrocytoma ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 11723698 NOTCH1 notch receptor 1 gene DOID:3149 keratoacanthoma ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoacanthoma PMID:27283355 11723698 NOTCH1 notch receptor 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:10998 D RGD:9068941 20200609 RGD protein:increased expression:spinal chord PMID:26067594|REF_RGD_ID:13524575 11723698 NOTCH1 notch receptor 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:10998 D RGD:9068941 20200609 RGD PMID:19028876|PMID:20484026|REF_RGD_ID:2325323|REF_RGD_ID:2325324 11723698 NOTCH1 notch receptor 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 11723698 NOTCH1 notch receptor 1 gene DOID:3652 Leigh disease ISO RGD:737367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11723698 NOTCH1 notch receptor 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 11723698 NOTCH1 notch receptor 1 gene DOID:3770 pulmonary fibrosis ISO RGD:3187 D RGD:9068941 20221201 RGD protein:increased expression:lung PMID:27982686|REF_RGD_ID:155663660 11723698 NOTCH1 notch receptor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:20007775|PMID:25741868|PMID:28492532 11723698 NOTCH1 notch receptor 1 gene DOID:3910 lung adenocarcinoma treatment ISO RGD:3187 D RGD:9068941 20221117 RGD PMID:33628824|REF_RGD_ID:155663482 11723698 NOTCH1 notch receptor 1 gene DOID:4079 heart valve disease ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22110751 11723698 NOTCH1 notch receptor 1 gene DOID:4556 lung large cell carcinoma treatment ISO RGD:3187 D RGD:9068941 20221117 RGD PMID:33628824|REF_RGD_ID:155663482 11723698 NOTCH1 notch receptor 1 gene DOID:4947 cholangiocarcinoma ISO RGD:737367 D RGD:9068941 20200609 RGD protein:increased expression:cholangiocyte PMID:15887117|REF_RGD_ID:2325330 11723698 NOTCH1 notch receptor 1 gene DOID:5409 lung small cell carcinoma treatment ISO RGD:3187 D RGD:9068941 20221117 RGD PMID:33628824|REF_RGD_ID:155663482 11723698 NOTCH1 notch receptor 1 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia 11723698 NOTCH1 notch receptor 1 gene DOID:62 aortic valve disease ISO RGD:737367 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: AORTIC VALVE DISEASE PMID:18593716|PMID:20981092|PMID:25260786|PMID:25741868|PMID:28492532|PMID:29641532|PMID:30582441|PMID:31624253 11723698 NOTCH1 notch receptor 1 gene DOID:630 genetic disease ISO RGD:737367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18660822|PMID:22326375|PMID:24728327|PMID:25741868|PMID:27283355|PMID:28492532|PMID:9336830 11723698 NOTCH1 notch receptor 1 gene DOID:6419 tetralogy of Fallot ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:19597493|PMID:27760138 11723698 NOTCH1 notch receptor 1 gene DOID:6432 pulmonary hypertension ameliorates ISO RGD:10998 D RGD:9068941 20221110 RGD PMID:34739767|REF_RGD_ID:155646132 11723698 NOTCH1 notch receptor 1 gene DOID:649 prion disease ISO RGD:10998 D RGD:9068941 20200609 RGD PMID:15640354|REF_RGD_ID:13782159 11723698 NOTCH1 notch receptor 1 gene DOID:65 connective tissue disease ISO RGD:737367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:16729972|PMID:17662764|PMID:18593716|PMID:20951801|PMID:21457232|PMID:24033266|PMID:24728327|PMID:25587027|PMID:25741868|PMID:26188975|PMID:26820064|PMID:28387797|PMID:28492532|PMID:30609409|PMID:32748548|PMID:33914609|PMID:33994118 11723698 NOTCH1 notch receptor 1 gene DOID:863 nervous system disease ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23203475 11723698 NOTCH1 notch receptor 1 gene DOID:8947 diabetic retinopathy treatment ISO RGD:10998 D RGD:9068941 20221110 RGD PMID:30787185|REF_RGD_ID:155663348 11723698 NOTCH1 notch receptor 1 gene DOID:9000713 Surgical Wound ameliorates ISO RGD:10998 D RGD:9068941 20221110 RGD associated with diabetes mellitus; PMID:30886104|REF_RGD_ID:155646129 11723698 NOTCH1 notch receptor 1 gene DOID:9000970 Focal Nodular Hyperplasia ISO RGD:737367 D RGD:9068941 20221110 RGD mRNA:decreased expression:liver PMID:23870033|REF_RGD_ID:155646133 11723698 NOTCH1 notch receptor 1 gene DOID:9001528 ARTERIAL DISSECTION ISO RGD:737367 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Arterial dissection PMID:25741868|PMID:28492532 11723698 NOTCH1 notch receptor 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:3187 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:18942116|REF_RGD_ID:2325310 11723698 NOTCH1 notch receptor 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:737367 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:18593716|PMID:20981092|PMID:24728327|PMID:25741868|PMID:28387797|PMID:28492532|PMID:29641532|PMID:30059548|PMID:30582441|PMID:35288444 11723698 NOTCH1 notch receptor 1 gene DOID:9002017 Folate-Responsive Megaloblastic Anemia ISO RGD:737367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Megaloblastic anemia, folate-responsive 11723698 NOTCH1 notch receptor 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:737367 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:16025100|PMID:25132448|PMID:25741868 11723698 NOTCH1 notch receptor 1 gene DOID:9002720 Splenomegaly ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25585350 11723698 NOTCH1 notch receptor 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19147571 11723698 NOTCH1 notch receptor 1 gene DOID:9002962 Adams-Oliver Syndrome 2 ISO RGD:737367 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 2 PMID:18593716|PMID:20981092|PMID:25741868|PMID:28492532|PMID:29641532|PMID:30582441 11723698 NOTCH1 notch receptor 1 gene DOID:9003191 Vascular Malformations ISO RGD:737367 D RGD:9068941 20221111 RGD protein:increased expression:intestine: PMID:24219762|REF_RGD_ID:155663361 11723698 NOTCH1 notch receptor 1 gene DOID:9003191 Vascular Malformations ISO RGD:737367 D RGD:9068941 20221111 RGD protein:increased expression:serum: PMID:21955427|REF_RGD_ID:155663363 11723698 NOTCH1 notch receptor 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25061499 11723698 NOTCH1 notch receptor 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:10998 D RGD:9068941 20221111 RGD PMID:23188126|REF_RGD_ID:155663352 11723698 NOTCH1 notch receptor 1 gene DOID:9004077 SHONE COMPLEX ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shone complex PMID:28492532 11723698 NOTCH1 notch receptor 1 gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 11723698 NOTCH1 notch receptor 1 gene DOID:9004397 calcification of aortic valve ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16025100 11723698 NOTCH1 notch receptor 1 gene DOID:9004464 Skin Neoplasms ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27923803 11723698 NOTCH1 notch receptor 1 gene DOID:9005647 Experimental Autoimmune Uveitis disease_progression ISO RGD:3187 D RGD:9068941 20221222 RGD PMID:31209505|REF_RGD_ID:155791448 11723698 NOTCH1 notch receptor 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:737367 D RGD:7240710 20180130 OMIM 11723698 NOTCH1 notch receptor 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:737367 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:15959515|PMID:16025100|PMID:16199547|PMID:1621771|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19597493|PMID:19668216|PMID:20007775|PMID:20951801|PMID:20981092|PMID:21457232|PMID:22307742|PMID:22318994|PMID:23034536|PMID:23040356|PMID:23102684|PMID:23386033|PMID:23578328|PMID:23798201|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:25132448|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25516202|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:25963545|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26893459|PMID:27077170|PMID:27760138|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28125082|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28991257|PMID:29447731|PMID:29555671|PMID:29641532|PMID:29706348|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30115950|PMID:30511478|PMID:30582441|PMID:30609409|PMID:30919572|PMID:31624253|PMID:31633846|PMID:31654484|PMID:31866570|PMID:32277046|PMID:32748548|PMID:33064175|PMID:33110418|PMID:33208564|PMID:33247628|PMID:33914609|PMID:33994118|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098 11723698 NOTCH1 notch receptor 1 gene DOID:9005835 Congenital Abnormalities ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17849441 11723698 NOTCH1 notch receptor 1 gene DOID:9006175 Peritoneal Diseases ISO RGD:3187 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:20056840|REF_RGD_ID:2325288 11723698 NOTCH1 notch receptor 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:3187 D RGD:9068941 20200609 RGD PMID:11971902|REF_RGD_ID:625426 11723698 NOTCH1 notch receptor 1 gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:3187 D RGD:9068941 20221104 RGD PMID:32089723|REF_RGD_ID:155641250 11723698 NOTCH1 notch receptor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30394310 11723698 NOTCH1 notch receptor 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22011395 11723698 NOTCH1 notch receptor 1 gene DOID:9008212 Diabetic Foot ISO RGD:737367 D RGD:9068941 20221110 RGD protein:increased expression:skin, epidermis: PMID:30886104|REF_RGD_ID:155646129 11723698 NOTCH1 notch receptor 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17849441 11723698 NOTCH1 notch receptor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21036696|PMID:21679465 11723698 NOTCH1 notch receptor 1 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:737367 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome PMID:24728327|PMID:25741868|PMID:28492532|PMID:30511478 11723736 CERS2 ceramide synthase 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1320742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11723736 CERS2 ceramide synthase 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1320742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11723736 CERS2 ceramide synthase 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1320742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11723736 CERS2 ceramide synthase 2 gene DOID:11446 sciatic neuropathy ISO RGD:1310059 D RGD:9068941 20220428 RGD mRNA,protein:decreased expression:sciatic nerve: PMID:22393241|REF_RGD_ID:11041067 11723736 CERS2 ceramide synthase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1320742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11723736 CERS2 ceramide synthase 2 gene DOID:5812 MHC class II deficiency ISO RGD:1320742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11723736 CERS2 ceramide synthase 2 gene DOID:630 genetic disease ISO RGD:1320742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11723736 CERS2 ceramide synthase 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1320742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11723736 CERS2 ceramide synthase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11723762 LOC100974033 cytochrome c oxidase subunit 6A2, mitochondrial gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:736247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11723762 LOC100974033 cytochrome c oxidase subunit 6A2, mitochondrial gene DOID:630 genetic disease ISO RGD:736247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11723762 LOC100974033 cytochrome c oxidase subunit 6A2, mitochondrial gene DOID:9005386 Mitochondrial Complex IV Deficiency, Nuclear Type 18 ISO RGD:736247 D RGD:7240710 20201111 OMIM 11723762 LOC100974033 cytochrome c oxidase subunit 6A2, mitochondrial gene DOID:9005386 Mitochondrial Complex IV Deficiency, Nuclear Type 18 ISO RGD:736247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18 PMID:25741868|PMID:31155743 11723768 ANKRD34B ankyrin repeat domain 34B gene DOID:630 genetic disease ISO RGD:1604706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11723768 ANKRD34B ankyrin repeat domain 34B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11723776 SEC14L3 SEC14 like lipid binding 3 gene DOID:630 genetic disease ISO RGD:1346355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11723804 HIPK2 homeodomain interacting protein kinase 2 gene DOID:11664 nephrosclerosis ISO RGD:1319649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 11723804 HIPK2 homeodomain interacting protein kinase 2 gene DOID:5199 ureteral obstruction ISO RGD:1319649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 11723804 HIPK2 homeodomain interacting protein kinase 2 gene DOID:630 genetic disease ISO RGD:1319649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11723804 HIPK2 homeodomain interacting protein kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11723830 SPACA9 sperm acrosome associated 9 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1353846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11723830 SPACA9 sperm acrosome associated 9 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1353846 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:25741868|PMID:28492532 11723830 SPACA9 sperm acrosome associated 9 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11723830 SPACA9 sperm acrosome associated 9 gene DOID:0081097 Rafiq syndrome ISO RGD:1353846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11723830 SPACA9 sperm acrosome associated 9 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1353846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11723830 SPACA9 sperm acrosome associated 9 gene DOID:3652 Leigh disease ISO RGD:1353846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11723830 SPACA9 sperm acrosome associated 9 gene DOID:630 genetic disease ISO RGD:1353846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11723851 PF4 platelet factor 4 gene DOID:0060903 thrombosis ISO RGD:735657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11588041|PMID:15795722|PMID:8282825|PMID:9446652 11723851 PF4 platelet factor 4 gene DOID:1205 allergic disease ISO RGD:735657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11723851 PF4 platelet factor 4 gene DOID:1588 thrombocytopenia ISO RGD:735657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10381515|PMID:11588041|PMID:15795722|PMID:20162249|PMID:8282825|PMID:9158107|PMID:9446652 11723851 PF4 platelet factor 4 gene DOID:417 autoimmune disease ISO RGD:735657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20162249 11723851 PF4 platelet factor 4 gene DOID:552 pneumonia ISO RGD:735657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11723851 PF4 platelet factor 4 gene DOID:630 genetic disease ISO RGD:735657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11723851 PF4 platelet factor 4 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:735657 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11723858 TUSC2 tumor suppressor 2, mitochondrial calcium regulator gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 11723858 TUSC2 tumor suppressor 2, mitochondrial calcium regulator gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 11723858 TUSC2 tumor suppressor 2, mitochondrial calcium regulator gene DOID:630 genetic disease ISO RGD:1343391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11723858 TUSC2 tumor suppressor 2, mitochondrial calcium regulator gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11723865 DPCD deleted in primary ciliary dyskinesia homolog (mouse) gene DOID:0090020 split hand-foot malformation ISO RGD:1601768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation PMID:21681106 11723865 DPCD deleted in primary ciliary dyskinesia homolog (mouse) gene DOID:10908 hydrocephalus ISO RGD:1316961 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 11723865 DPCD deleted in primary ciliary dyskinesia homolog (mouse) gene DOID:630 genetic disease ISO RGD:1601768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11723865 DPCD deleted in primary ciliary dyskinesia homolog (mouse) gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316961 D RGD:9068941 20220825 MouseDO 11723888 PMM2 phosphomannomutase 2 gene DOID:0050570 congenital disorder of glycosylation type I ISO RGD:1319677 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type I PMID:10386614|PMID:10527672|PMID:10602363|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24033266|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28492532|PMID:28940310|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039 11723888 PMM2 phosphomannomutase 2 gene DOID:0050753 cerebellar ataxia ISO RGD:1319677 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:10386614|PMID:10527672|PMID:10602363|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24033266|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28492532|PMID:28940310|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039 11723888 PMM2 phosphomannomutase 2 gene DOID:0060174 GABA aminotransferase deficiency ISO RGD:1319677 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency PMID:25738457|PMID:28492532 11723888 PMM2 phosphomannomutase 2 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1319677 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:10386614|PMID:10527672|PMID:10571956|PMID:10602363|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11156536|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11589167|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16376131|PMID:16540464|PMID:16825284|PMID:17166182|PMID:17451957|PMID:18948042|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24033266|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28492532|PMID:28940310|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039 11723888 PMM2 phosphomannomutase 2 gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:1319677 D RGD:7240710 20180130 OMIM 11723888 PMM2 phosphomannomutase 2 gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:1319677 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PMM2-congenital disorder of glycosylation PMID:10066032|PMID:10386614|PMID:10392743|PMID:10527672|PMID:10571009|PMID:10571956|PMID:10602363|PMID:10700701|PMID:10801058|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11058896|PMID:11134235|PMID:11148191|PMID:11156536|PMID:11350185|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11589167|PMID:11715002|PMID:11875054|PMID:11891694|PMID:11916319|PMID:12244009|PMID:12297897|PMID:12357336|PMID:12529711|PMID:12607543|PMID:12626389|PMID:12705494|PMID:12905014|PMID:13129599|PMID:15272470|PMID:15277997|PMID:15520415|PMID:15645285|PMID:15714316|PMID:15844218|PMID:16085795|PMID:16199547|PMID:16376131|PMID:16435227|PMID:16540464|PMID:16825284|PMID:16941129|PMID:17158594|PMID:17166182|PMID:17186415|PMID:17307006|PMID:17308246|PMID:17451957|PMID:17576681|PMID:17920054|PMID:18093857|PMID:18203160|PMID:18485644|PMID:18571450|PMID:18629883|PMID:18948042|PMID:19101518|PMID:19165618|PMID:19168813|PMID:19235233|PMID:19357119|PMID:19396570|PMID:19862844|PMID:20301289|PMID:20638314|PMID:21228398|PMID:21541725|PMID:21937992|PMID:21949237|PMID:22012410|PMID:22223895|PMID:22649348|PMID:22801829|PMID:22814378|PMID:22975760|PMID:23045520|PMID:23430838|PMID:23430905|PMID:23430927|PMID:23757202|PMID:23806237|PMID:23988505|PMID:24033266|PMID:24037084|PMID:24139637|PMID:24493206|PMID:24498599|PMID:24739649|PMID:25167861|PMID:25192236|PMID:25326635|PMID:25333069|PMID:25355454|PMID:25497157|PMID:25525159|PMID:25640679|PMID:25681648|PMID:25741868|PMID:26014514|PMID:26206375|PMID:26425584|PMID:26488408|PMID:26502900|PMID:26629787|PMID:26633542|PMID:26805780|PMID:26887550|PMID:27053713|PMID:27231023|PMID:27415628|PMID:28122681|PMID:28139241|PMID:28373276|PMID:28425223|PMID:28454995|PMID:28492532|PMID:28566178|PMID:28807751|PMID:28820871|PMID:28915903|PMID:28940310|PMID:28954837|PMID:29361989|PMID:29470411|PMID:29701302|PMID:30061496|PMID:30397276|PMID:30406445|PMID:30530630|PMID:30687093|PMID:30740725|PMID:30991241|PMID:31115488|PMID:31117816|PMID:31391289|PMID:31474318|PMID:31902100|PMID:31980526|PMID:32457805|PMID:32581362|PMID:32635232|PMID:32860008|PMID:32874916|PMID:33176815|PMID:33209585|PMID:33340551|PMID:33413482|PMID:33532864|PMID:33583911|PMID:33643843|PMID:34132027|PMID:34277356|PMID:34420056|PMID:34652821|PMID:34859900|PMID:9140401|PMID:9497260|PMID:9536098|PMID:9710598|PMID:9781039 11723888 PMM2 phosphomannomutase 2 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1319677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 11723888 PMM2 phosphomannomutase 2 gene DOID:1059 intellectual disability ISO RGD:1319677 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:10527672|PMID:10801058|PMID:11156536|PMID:11589167|PMID:11891694|PMID:12705494|PMID:15714316|PMID:15844218|PMID:16199547|PMID:18948042|PMID:19862844|PMID:20301289|PMID:21541725|PMID:23430838|PMID:23806237|PMID:23988505|PMID:25355454|PMID:25497157|PMID:25741868|PMID:26014514|PMID:28139241|PMID:28492532|PMID:9140401 11723888 PMM2 phosphomannomutase 2 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1319677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 11723888 PMM2 phosphomannomutase 2 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1319677 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:10386614|PMID:10527672|PMID:10602363|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24033266|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28492532|PMID:28940310|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039 11723888 PMM2 phosphomannomutase 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1319677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:15844218|PMID:25355454|PMID:25497157|PMID:25741868|PMID:28492532|PMID:32635232|PMID:9140401 11723888 PMM2 phosphomannomutase 2 gene DOID:5812 MHC class II deficiency ISO RGD:1319677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11723888 PMM2 phosphomannomutase 2 gene DOID:630 genetic disease ISO RGD:1319677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10386614|PMID:10527672|PMID:10602363|PMID:10700701|PMID:10801058|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11156536|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11589167|PMID:11715002|PMID:11891694|PMID:11916319|PMID:12244009|PMID:15645285|PMID:15714316|PMID:15844218|PMID:16435227|PMID:16540464|PMID:17166182|PMID:17186415|PMID:17451957|PMID:17920054|PMID:18203160|PMID:19357119|PMID:19862844|PMID:20301289|PMID:21228398|PMID:21541725|PMID:21949237|PMID:22012410|PMID:22975760|PMID:23430838|PMID:23430905|PMID:23988505|PMID:24033266|PMID:24498599|PMID:25326635|PMID:25333069|PMID:25355454|PMID:25497157|PMID:25741868|PMID:26014514|PMID:26206375|PMID:26488408|PMID:27053713|PMID:27415628|PMID:28122681|PMID:28139241|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28566178|PMID:28940310|PMID:28954837|PMID:30740725|PMID:31117816|PMID:31474318|PMID:32581362|PMID:32635232|PMID:32860008|PMID:33413482|PMID:33532864|PMID:9140401|PMID:9497260|PMID:9781039 11723888 PMM2 phosphomannomutase 2 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1319677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 11723888 PMM2 phosphomannomutase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 11723888 PMM2 phosphomannomutase 2 gene DOID:9351 diabetes mellitus ISO RGD:1319677 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10386614|PMID:10527672|PMID:10602363|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24033266|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28492532|PMID:28940310|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039 11723903 PDE6H phosphodiesterase 6H gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1353241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 11723903 PDE6H phosphodiesterase 6H gene DOID:0080314 cone-rod dystrophy 14 ISO RGD:1353241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy 3 11723903 PDE6H phosphodiesterase 6H gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1353241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 11723903 PDE6H phosphodiesterase 6H gene DOID:0081025 retinal cone dystrophy 3A ISO RGD:1353241 D RGD:7240710 20180130 OMIM 11723903 PDE6H phosphodiesterase 6H gene DOID:0081025 retinal cone dystrophy 3A ISO RGD:1353241 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Retinal cone dystrophy 3A PMID:15629837|PMID:22901948|PMID:25741868|PMID:27472364|PMID:28492532 11723903 PDE6H phosphodiesterase 6H gene DOID:13399 color blindness ISO RGD:1353241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25739440 11723903 PDE6H phosphodiesterase 6H gene DOID:630 genetic disease ISO RGD:1353241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11723911 AGPAT5 1-acylglycerol-3-phosphate O-acyltransferase 5 gene DOID:630 genetic disease ISO RGD:1347516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11723911 AGPAT5 1-acylglycerol-3-phosphate O-acyltransferase 5 gene DOID:9000058 Keloid ISO RGD:1347516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keloid formation PMID:28905881 11723924 CCNDBP1 cyclin D1 binding protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1312246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11723924 CCNDBP1 cyclin D1 binding protein 1 gene DOID:630 genetic disease ISO RGD:1312246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11723924 CCNDBP1 cyclin D1 binding protein 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1312246 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16501603 11723924 CCNDBP1 cyclin D1 binding protein 1 gene DOID:9256 colorectal cancer ISO RGD:1312246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11723944 EXOSC10 exosome component 10 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1349336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11723944 EXOSC10 exosome component 10 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1349336 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11723944 EXOSC10 exosome component 10 gene DOID:0111936 immunodeficiency 14 ISO RGD:1349336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 11723944 EXOSC10 exosome component 10 gene DOID:630 genetic disease ISO RGD:1349336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11723944 EXOSC10 exosome component 10 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1349336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 11723979 POLE4 DNA polymerase epsilon 4, accessory subunit gene DOID:630 genetic disease ISO RGD:1317190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11723987 C1H1orf54 chromosome 1 C1orf54 homolog gene DOID:0111940 immunodeficiency 42 ISO RGD:1606237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11723987 C1H1orf54 chromosome 1 C1orf54 homolog gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11723987 C1H1orf54 chromosome 1 C1orf54 homolog gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11723987 C1H1orf54 chromosome 1 C1orf54 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1606237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11723987 C1H1orf54 chromosome 1 C1orf54 homolog gene DOID:5812 MHC class II deficiency ISO RGD:1606237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11723987 C1H1orf54 chromosome 1 C1orf54 homolog gene DOID:630 genetic disease ISO RGD:1606237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11723987 C1H1orf54 chromosome 1 C1orf54 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11724017 TMPRSS13 transmembrane serine protease 13 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1604778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 11724017 TMPRSS13 transmembrane serine protease 13 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1604778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11724017 TMPRSS13 transmembrane serine protease 13 gene DOID:0080690 RASopathy ISO RGD:1604778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11724017 TMPRSS13 transmembrane serine protease 13 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1604778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 11724017 TMPRSS13 transmembrane serine protease 13 gene DOID:0111123 nephronophthisis 15 ISO RGD:1604778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 11724017 TMPRSS13 transmembrane serine protease 13 gene DOID:0111971 immunodeficiency 18 ISO RGD:1604778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 11724017 TMPRSS13 transmembrane serine protease 13 gene DOID:0111972 immunodeficiency 19 ISO RGD:1604778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 11724017 TMPRSS13 transmembrane serine protease 13 gene DOID:0111973 immunodeficiency 17 ISO RGD:1604778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 11724017 TMPRSS13 transmembrane serine protease 13 gene DOID:1059 intellectual disability ISO RGD:1604778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11724017 TMPRSS13 transmembrane serine protease 13 gene DOID:630 genetic disease ISO RGD:1604778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11724017 TMPRSS13 transmembrane serine protease 13 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11724017 TMPRSS13 transmembrane serine protease 13 gene DOID:9007661 Dwarfism ISO RGD:1604778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11724049 TRAF6 TNF receptor associated factor 6 gene DOID:0060036 intrinsic cardiomyopathy ISO RGD:1315706 D RGD:9068941 20221110 RGD protein:increased expression:heart (human) PMID:27249171|REF_RGD_ID:155646134 11724049 TRAF6 TNF receptor associated factor 6 gene DOID:1059 intellectual disability ISO RGD:1315706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11724049 TRAF6 TNF receptor associated factor 6 gene DOID:14793 hypohidrotic ectodermal dysplasia ISO RGD:1315707 D RGD:9068941 20220825 MouseDO OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 11724049 TRAF6 TNF receptor associated factor 6 gene DOID:2600 laryngeal carcinoma disease_progression ISO RGD:1315706 D RGD:9068941 20220114 RGD PMID:20164024|REF_RGD_ID:150573814 11724049 TRAF6 TNF receptor associated factor 6 gene DOID:3393 coronary artery disease ISO RGD:1315706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20524934 11724049 TRAF6 TNF receptor associated factor 6 gene DOID:630 genetic disease ISO RGD:1315706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11724049 TRAF6 TNF receptor associated factor 6 gene DOID:7148 rheumatoid arthritis ISO RGD:1315706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 11724049 TRAF6 TNF receptor associated factor 6 gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:1306853 D RGD:9068941 20220121 RGD PMID:27538408|REF_RGD_ID:151347179 11724049 Traf6 TNF receptor-associated factor 6 gene DOID:11984 hypertrophic cardiomyopathy treatment ISO RGD:1315707 D RGD:9068941 20221110 RGD protein:increased expression:heart (human) PMID:27249171|REF_RGD_ID:155646134 11724081 EML2 EMAP like 2 gene DOID:630 genetic disease ISO RGD:734198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11724117 GLYCTK glycerate kinase gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1604750 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 11724117 GLYCTK glycerate kinase gene DOID:0111626 D-glyceric aciduria ISO RGD:1604750 D RGD:7240710 20180130 OMIM 11724117 GLYCTK glycerate kinase gene DOID:0111626 D-glyceric aciduria ISO RGD:1604750 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: D-Glyceric aciduria PMID:20949620|PMID:25741868|PMID:28492532|PMID:29695758|PMID:4434100 11724117 GLYCTK glycerate kinase gene DOID:630 genetic disease ISO RGD:1604750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11724134 LRRC59 leucine rich repeat containing 59 gene DOID:3068 glioblastoma ISO RGD:1605059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11724134 LRRC59 leucine rich repeat containing 59 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11724134 LRRC59 leucine rich repeat containing 59 gene DOID:630 genetic disease ISO RGD:1605059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11724134 LRRC59 leucine rich repeat containing 59 gene DOID:684 hepatocellular carcinoma ISO RGD:1605059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11724134 LRRC59 leucine rich repeat containing 59 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1605059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11724134 LRRC59 leucine rich repeat containing 59 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1605059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11724145 HMCES 5-hydroxymethylcytosine binding, ES cell specific gene DOID:0111947 immunodeficiency 21 ISO RGD:1604329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 11724145 HMCES 5-hydroxymethylcytosine binding, ES cell specific gene DOID:630 genetic disease ISO RGD:1604329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11724145 HMCES 5-hydroxymethylcytosine binding, ES cell specific gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1604329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 11724145 HMCES 5-hydroxymethylcytosine binding, ES cell specific gene DOID:9270 alkaptonuria ISO RGD:1604329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:0050576 Senior-Loken syndrome ISO RGD:1344161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia PMID:18414213|PMID:21258341|PMID:24876116|PMID:25741868|PMID:26940125|PMID:28492532|PMID:29127259|PMID:33532864 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1344161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:16199547|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18414213|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:22773737|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24033266|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25640679|PMID:25741868|PMID:26068938|PMID:26489029|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:30655312|PMID:32173348|PMID:33532864|PMID:9536098 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1344161 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome PMID:16199547|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18414213|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:22773737|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24033266|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25640679|PMID:25741868|PMID:26068938|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:30655312|PMID:32173348|PMID:33532864|PMID:9536098 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome PMID:15133511|PMID:16199547|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18414213|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:22773737|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24033266|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25640679|PMID:25741868|PMID:26068938|PMID:26489029|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:30655312|PMID:32173348|PMID:33532864|PMID:9536098 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14738421|PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23195492|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:0050777 Joubert syndrome ISO RGD:1344161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1344161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome PMID:18414213|PMID:21258341|PMID:24876116|PMID:25741868|PMID:26940125|PMID:28492532|PMID:29127259|PMID:33532864 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:0110088 asphyxiating thoracic dystrophy 4 ISO RGD:1344161 D RGD:7240710 20180130 OMIM 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:0110088 asphyxiating thoracic dystrophy 4 ISO RGD:1344161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY PMID:16199547|PMID:17576681|PMID:18327258|PMID:18414213|PMID:21068128|PMID:21258341|PMID:22773737|PMID:23559409|PMID:24033266|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:30655312|PMID:33532864|PMID:9536098 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1344161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:18327258|PMID:21068128|PMID:21258341|PMID:23559409|PMID:24876116|PMID:25492405|PMID:27491411|PMID:28492532|PMID:29068549 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:0110980 Joubert syndrome 1 ISO RGD:1344161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 1 PMID:21258341|PMID:24033266|PMID:25741868|PMID:28492532 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:0111112 nephronophthisis 1 ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:0111113 nephronophthisis 2 ISO RGD:1344161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile nephronophthisis PMID:16199547|PMID:18327258|PMID:18414213|PMID:21068128|PMID:21258341|PMID:23559409|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:33532864 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:0111119 nephronophthisis 12 ISO RGD:1344161 D RGD:7240710 20180130 OMIM 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:0111119 nephronophthisis 12 ISO RGD:1344161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis 12 PMID:16199547|PMID:17576681|PMID:18327258|PMID:18414213|PMID:21068128|PMID:21258341|PMID:22773737|PMID:23559409|PMID:24033266|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:33532864|PMID:9536098 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:0111295 generalized epilepsy with febrile seizures plus 7 ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14738421|PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23195492|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:1184 nephrotic syndrome ISO RGD:1344161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:18414213|PMID:21258341|PMID:24876116|PMID:25741868|PMID:26940125|PMID:28492532|PMID:29127259|PMID:32173348|PMID:33532864 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:12712 nephronophthisis ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549|PMID:30655312 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:14777 benign familial neonatal epilepsy ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial neonatal seizures PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:2975 cystic kidney disease ISO RGD:1557198 D RGD:9068941 20220825 MouseDO 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:303 substance-related disorder ISO RGD:1344161 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:557 kidney disease ISO RGD:1344161 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258341 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:630 genetic disease ISO RGD:1344161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:65 connective tissue disease ISO RGD:1344161 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:18414213|PMID:21258341|PMID:24033266|PMID:25741868|PMID:28492532 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:65 connective tissue disease ISO RGD:1344161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:18414213|PMID:21258341|PMID:24033266|PMID:25741868|PMID:26489029|PMID:28492532 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:784 chronic kidney disease ISO RGD:1344161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:24033266|PMID:25741868|PMID:28492532 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:8501 fundus dystrophy ISO RGD:1344161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:18327258|PMID:18414213|PMID:21068128|PMID:21258341|PMID:23559409|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:33532864 11724168 TTC21B tetratricopeptide repeat domain 21B gene DOID:9249 Beemer-Langer syndrome ISO RGD:1344161 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome PMID:18327258|PMID:21068128|PMID:21258341|PMID:23559409|PMID:24876116|PMID:25492405|PMID:25741868|PMID:27491411|PMID:28492532|PMID:29068549 11724201 SAMD7 sterile alpha motif domain containing 7 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1318984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 11724201 SAMD7 sterile alpha motif domain containing 7 gene DOID:1062 Fanconi syndrome ISO RGD:1318984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 11724201 SAMD7 sterile alpha motif domain containing 7 gene DOID:630 genetic disease ISO RGD:1318984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11724216 C1R complement C1r gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1319235 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11724216 C1R complement C1r gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1319235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11724216 C1R complement C1r gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1319235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11724216 C1R complement C1r gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1319235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11724216 C1R complement C1r gene DOID:0080986 Ehlers-Danlos syndrome periodontal type 1 ISO RGD:1319235 D RGD:7240710 20190315 OMIM 11724216 C1R complement C1r gene DOID:0080986 Ehlers-Danlos syndrome periodontal type 1 ISO RGD:1319235 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 PMID:12776252|PMID:2260589|PMID:22739343|PMID:25741868|PMID:27663155|PMID:27745832|PMID:33268848|PMID:34324282|PMID:890102 11724216 C1R complement C1r gene DOID:0080987 Ehlers-Danlos syndrome periodontal type 2 ISO RGD:1319235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 PMID:12776252|PMID:2260589|PMID:22739343|PMID:27663155|PMID:27745832|PMID:890102 11724216 C1R complement C1r gene DOID:0111621 Temtamy syndrome ISO RGD:1319235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11724216 C1R complement C1r gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1319235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome 11724216 C1R complement C1r gene DOID:289 endometriosis ISO RGD:1319235 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11724216 C1R complement C1r gene DOID:8725 vascular dementia ISO RGD:1319235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:25741868|PMID:33268848|PMID:35307828 11724216 C1R complement C1r gene DOID:9003565 Paratuberculosis ISO RGD:1319235 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22633222 11724216 C1R complement C1r gene DOID:9007096 Stroke ISO RGD:1319235 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868 11724216 C1R complement C1r gene DOID:9007692 Insulin Resistance ISO RGD:1319235 D RGD:9068941 20200609 RGD protein:increased expression:adipocyte PMID:17244723|REF_RGD_ID:1600551 11724216 C1R complement C1r gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1319235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11724236 INTS5 integrator complex subunit 5 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1603295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:28492532 11724236 INTS5 integrator complex subunit 5 gene DOID:0110860 polycystic kidney disease 3 ISO RGD:1603295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 3 11724236 INTS5 integrator complex subunit 5 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11724236 INTS5 integrator complex subunit 5 gene DOID:1059 intellectual disability ISO RGD:1603295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11724236 INTS5 integrator complex subunit 5 gene DOID:630 genetic disease ISO RGD:1603295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11724242 COL22A1 collagen type XXII alpha 1 chain gene DOID:10941 intracranial aneurysm susceptibility ISO RGD:1319222 D RGD:9068941 20200609 RGD DNA:SNPs:cds:multiple(human) PMID:30541770|REF_RGD_ID:13831344 11724242 COL22A1 collagen type XXII alpha 1 chain gene DOID:5409 lung small cell carcinoma ISO RGD:1319222 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 11724242 COL22A1 collagen type XXII alpha 1 chain gene DOID:630 genetic disease ISO RGD:1319222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11724310 GJB1 gap junction protein beta 1 gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:732555 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dejerine-Sottas disease PMID:10737979|PMID:15241803|PMID:15947997|PMID:20301548|PMID:25741868|PMID:28492532|PMID:9633821 11724310 GJB1 gap junction protein beta 1 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:732555 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:10071100|PMID:10093067|PMID:10102421|PMID:10207904|PMID:10220155|PMID:10234007|PMID:10400511|PMID:10521546|PMID:10586261|PMID:10586279|PMID:10586284|PMID:10586291|PMID:10587015|PMID:10639608|PMID:10646523|PMID:10671058|PMID:10732813|PMID:10737979|PMID:10848620|PMID:10873293|PMID:10894999|PMID:10923043|PMID:10931843|PMID:11030070|PMID:11140841|PMID:11252295|PMID:11266688|PMID:11271367|PMID:11325342|PMID:11393532|PMID:11404117|PMID:11437164|PMID:11438991|PMID:11545686|PMID:11562788|PMID:11571214|PMID:11718056|PMID:11723288|PMID:11835375|PMID:12111842|PMID:1211842|PMID:12185164|PMID:12297581|PMID:12362307|PMID:12402337|PMID:12457340|PMID:12460545|PMID:12477701|PMID:12497641|PMID:12499506|PMID:12536289|PMID:12542510|PMID:12707076|PMID:14627639|PMID:14663027|PMID:14663144|PMID:14680548|PMID:14706470|PMID:14960772|PMID:14991359|PMID:15006706|PMID:15241803|PMID:15468313|PMID:15470753|PMID:15719046|PMID:15852376|PMID:16079393|PMID:16096811|PMID:16301507|PMID:16373087|PMID:16401743|PMID:16442804|PMID:16476939|PMID:16688595|PMID:16912585|PMID:16922730|PMID:17100997|PMID:17353473|PMID:17576681|PMID:17620124|PMID:17646144|PMID:17714866|PMID:18254389|PMID:18379723|PMID:18380028|PMID:18380031|PMID:18636082|PMID:18714809|PMID:18717720|PMID:19062535|PMID:19259128|PMID:19297523|PMID:19335535|PMID:19369543|PMID:19448103|PMID:19468074|PMID:19691535|PMID:20039784|PMID:20128140|PMID:20193560|PMID:20301548|PMID:20491857|PMID:20532933|PMID:20730878|PMID:20942588|PMID:21149811|PMID:21254193|PMID:21280457|PMID:21282593|PMID:21291455|PMID:21309765|PMID:21504505|PMID:21607969|PMID:21692908|PMID:21918739|PMID:21922480|PMID:22243284|PMID:22464564|PMID:22771394|PMID:22820753|PMID:22944031|PMID:23011429|PMID:23106488|PMID:23209285|PMID:23279342|PMID:23384994|PMID:23649551|PMID:23707145|PMID:23827825|PMID:23838279|PMID:23871722|PMID:24078732|PMID:24290847|PMID:24327141|PMID:24444136|PMID:24484554|PMID:24627108|PMID:24724718|PMID:24768312|PMID:24863494|PMID:24958582|PMID:25025039|PMID:25043634|PMID:25388846|PMID:25429913|PMID:25614874|PMID:25741868|PMID:25771809|PMID:25802885|PMID:25883816|PMID:25947624|PMID:25969535|PMID:26274329|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26955336|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27098243|PMID:27098783|PMID:27228968|PMID:27234031|PMID:27367520|PMID:27544631|PMID:27549087|PMID:27804109|PMID:27812541|PMID:27844031|PMID:27862672|PMID:28071741|PMID:28097225|PMID:28283593|PMID:28286897|PMID:28334782|PMID:28448691|PMID:28469099|PMID:28492532|PMID:28768847|PMID:28797703|PMID:28902413|PMID:29077882|PMID:29095325|PMID:29236290|PMID:29245364|PMID:29462293|PMID:29629536|PMID:29998508|PMID:30196252|PMID:30340945|PMID:30373780|PMID:30737405|PMID:31119804|PMID:31211173|PMID:31220874|PMID:31323543|PMID:31372974|PMID:31827005|PMID:31842800|PMID:31902012|PMID:31919945|PMID:31920494|PMID:32010055|PMID:32022442|PMID:32376792|PMID:32399692|PMID:32903794|PMID:33105617|PMID:33136338|PMID:33314704|PMID:34089394|PMID:7477983|PMID:7580242|PMID:7833935|PMID:7946361|PMID:8004109|PMID:8162049|PMID:8266101|PMID:8304339|PMID:8698335|PMID:8733054|PMID:8737658|PMID:8757034|PMID:8800924|PMID:8816997|PMID:8829637|PMID:8889588|PMID:8990008|PMID:9018031|PMID:9099841|PMID:9187667|PMID:9272161|PMID:9328258|PMID:9354338|PMID:9361298|PMID:9364054|PMID:9401007|PMID:9452025|PMID:9452099|PMID:9469571|PMID:9536098|PMID:9592087|PMID:9600589|PMID:9633821|PMID:9760211|PMID:9818870|PMID:9854984|PMID:9856562|PMID:9888385 11724310 GJB1 gap junction protein beta 1 gene DOID:0050753 cerebellar ataxia ISO RGD:732555 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:11438991|PMID:11571214|PMID:15468313|PMID:18717720|PMID:20193560|PMID:23384994|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28768847|PMID:9361298|PMID:9818870 11724310 GJB1 gap junction protein beta 1 gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:732555 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe combined immunodeficiency PMID:28492532 11724310 GJB1 gap junction protein beta 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:732555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2559087 11724310 GJB1 gap junction protein beta 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11724310 GJB1 gap junction protein beta 1 gene DOID:0110153 Charcot-Marie-Tooth disease type 1E ISO RGD:732555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEAFNESS WITH CHARCOT-MARIE-TOOTH DISEASE PMID:12402337|PMID:15241803|PMID:25741868|PMID:26467025|PMID:28492532 11724310 GJB1 gap junction protein beta 1 gene DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 ISO RGD:732555 D RGD:7240710 20180130 OMIM 11724310 GJB1 gap junction protein beta 1 gene DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 ISO RGD:732555 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 | ClinVar Annotator: match by term: X-linked Charcot-Marie-Tooth disease type 1 PMID:10071100|PMID:10093067|PMID:10102421|PMID:10207904|PMID:10220155|PMID:10487913|PMID:10521546|PMID:10586261|PMID:10586279|PMID:10639608|PMID:10671058|PMID:10732813|PMID:10737979|PMID:10848620|PMID:10873293|PMID:10923043|PMID:10931843|PMID:11140841|PMID:11271367|PMID:11325342|PMID:11393532|PMID:11404117|PMID:11437164|PMID:11438991|PMID:11562788|PMID:11571214|PMID:11723288|PMID:11734543|PMID:11835375|PMID:11891346|PMID:12111842|PMID:1211842|PMID:12185164|PMID:12207932|PMID:12297581|PMID:12362307|PMID:12402337|PMID:12460545|PMID:12477701|PMID:12497641|PMID:12499506|PMID:12542510|PMID:12707076|PMID:14627639|PMID:14663027|PMID:14960772|PMID:15006706|PMID:15241803|PMID:15468313|PMID:15470753|PMID:15719046|PMID:15852376|PMID:15947997|PMID:16079393|PMID:16301507|PMID:16442804|PMID:16476939|PMID:16688595|PMID:16922730|PMID:17100997|PMID:17353473|PMID:17576681|PMID:17620124|PMID:18254389|PMID:18379723|PMID:18380028|PMID:18714809|PMID:18717720|PMID:19062535|PMID:19259128|PMID:19297523|PMID:19335535|PMID:19369543|PMID:19448103|PMID:19691535|PMID:20039784|PMID:20128140|PMID:20193560|PMID:20301548|PMID:21149811|PMID:21254193|PMID:21291455|PMID:21309765|PMID:21326314|PMID:21504505|PMID:21692908|PMID:21918739|PMID:22243284|PMID:22464564|PMID:22771394|PMID:22820753|PMID:22944031|PMID:23106488|PMID:23209285|PMID:23279342|PMID:23384994|PMID:23649551|PMID:23707145|PMID:23773993|PMID:23806086|PMID:23827825|PMID:23871722|PMID:24088041|PMID:24327141|PMID:24444136|PMID:25025039|PMID:25429913|PMID:25741868|PMID:25802885|PMID:25947624|PMID:26257172|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26955336|PMID:27025386|PMID:27027447|PMID:27098243|PMID:27098783|PMID:27544631|PMID:27804109|PMID:27844031|PMID:27862672|PMID:28071741|PMID:28097225|PMID:28283593|PMID:28334782|PMID:28448691|PMID:28469099|PMID:28492532|PMID:28768847|PMID:29077882|PMID:29086968|PMID:29095325|PMID:29236290|PMID:29245364|PMID:29462293|PMID:29998508|PMID:30196252|PMID:30340945|PMID:30373780|PMID:31211173|PMID:31220874|PMID:31323543|PMID:31372974|PMID:31673878|PMID:31827005|PMID:31842800|PMID:31920494|PMID:32010055|PMID:32022442|PMID:32376792|PMID:32399692|PMID:32903794|PMID:33105617|PMID:33136338|PMID:33314704|PMID:34089394|PMID:427531|PMID:7477983|PMID:7580242|PMID:7946361|PMID:8004109|PMID:8162049|PMID:8266101|PMID:8304339|PMID:8698335|PMID:8733054|PMID:8737658|PMID:8757034|PMID:8800924|PMID:8816997|PMID:8829637|PMID:8889588|PMID:8990008|PMID:9018031|PMID:9099841|PMID:9187667|PMID:9272161|PMID:9328258|PMID:9354338|PMID:9361298|PMID:9364054|PMID:9401007|PMID:9452099|PMID:9536098|PMID:9592087|PMID:9600589|PMID:9633821|PMID:9818870|PMID:9854984|PMID:9856562|PMID:9888385 11724310 GJB1 gap junction protein beta 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:732555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:10102421|PMID:10207904|PMID:10848620|PMID:11571214|PMID:21291455|PMID:25741868|PMID:27544631|PMID:28071741|PMID:28469099|PMID:28492532|PMID:31220874|PMID:31323543|PMID:31842800|PMID:32376792|PMID:33314704|PMID:8004109|PMID:9361298 11724310 GJB1 gap junction protein beta 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10093067|PMID:10102421|PMID:10207904|PMID:10220155|PMID:10234007|PMID:10487913|PMID:10521546|PMID:10586227|PMID:10586261|PMID:10586279|PMID:10586284|PMID:10586291|PMID:10587015|PMID:10639608|PMID:10646523|PMID:10732813|PMID:10737979|PMID:10848620|PMID:10873293|PMID:10894999|PMID:10923043|PMID:10931843|PMID:10938190|PMID:11030070|PMID:11085599|PMID:11140841|PMID:11180613|PMID:11252295|PMID:11257785|PMID:11271367|PMID:11325342|PMID:11393532|PMID:11404117|PMID:11437164|PMID:11438991|PMID:11545686|PMID:11562788|PMID:11571214|PMID:11723288|PMID:11835375|PMID:11891346|PMID:12111842|PMID:1211842|PMID:12185164|PMID:12207932|PMID:12325071|PMID:12362307|PMID:12402337|PMID:12460545|PMID:12477701|PMID:12497641|PMID:12536289|PMID:12542510|PMID:12614935|PMID:12707076|PMID:14607795|PMID:14627639|PMID:14663027|PMID:14663144|PMID:14680548|PMID:14960772|PMID:14991359|PMID:15006706|PMID:15241803|PMID:15468313|PMID:15574129|PMID:15719046|PMID:15852376|PMID:16079393|PMID:16096811|PMID:16401743|PMID:16476939|PMID:16688595|PMID:16912585|PMID:16922730|PMID:17100997|PMID:17297706|PMID:17353473|PMID:17620124|PMID:17646144|PMID:17714866|PMID:18254389|PMID:18379723|PMID:18380022|PMID:18380028|PMID:18636082|PMID:18717720|PMID:18846639|PMID:19062535|PMID:19259128|PMID:19335535|PMID:19369543|PMID:19448103|PMID:19691535|PMID:20039784|PMID:20128140|PMID:20193560|PMID:20435583|PMID:20491857|PMID:20593665|PMID:20857133|PMID:20942588|PMID:21104867|PMID:21149811|PMID:21254193|PMID:21280457|PMID:21291455|PMID:21300330|PMID:21309765|PMID:21326314|PMID:21607969|PMID:21692908|PMID:21922480|PMID:22159091|PMID:22243284|PMID:22464564|PMID:224645664|PMID:22771394|PMID:22820753|PMID:22944031|PMID:23011429|PMID:23106488|PMID:23209285|PMID:23232577|PMID:23279342|PMID:23384994|PMID:23649551|PMID:23827825|PMID:23838279|PMID:23871722|PMID:24053775|PMID:24078732|PMID:24170412|PMID:24444136|PMID:24627108|PMID:24768312|PMID:24958582|PMID:25025039|PMID:25043634|PMID:25086786|PMID:25388846|PMID:25429913|PMID:25595958|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25883816|PMID:25947624|PMID:25969535|PMID:26392352|PMID:26454100|PMID:26467025|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27098783|PMID:27234031|PMID:27367520|PMID:27544631|PMID:27549087|PMID:27804109|PMID:27812541|PMID:27844031|PMID:27862672|PMID:28071741|PMID:28283593|PMID:28286897|PMID:28334782|PMID:28448691|PMID:28469099|PMID:28492532|PMID:28768847|PMID:29095325|PMID:30373780|PMID:30737405|PMID:31211173|PMID:31673878|PMID:32010055|PMID:32399692|PMID:33105617|PMID:33136338|PMID:7477983|PMID:7580242|PMID:7833935|PMID:7946361|PMID:8004109|PMID:8162049|PMID:8266101|PMID:8628473|PMID:8698335|PMID:8737658|PMID:8757034|PMID:8800924|PMID:8816997|PMID:8829637|PMID:8990008|PMID:9018031|PMID:9099841|PMID:9187667|PMID:9272161|PMID:9328258|PMID:9354338|PMID:9361298|PMID:9364054|PMID:9401007|PMID:9452025|PMID:9452099|PMID:9469569|PMID:9469571|PMID:9541114|PMID:9592087|PMID:9600589|PMID:9633821|PMID:9818870|PMID:9854984|PMID:9856562|PMID:9888385 11724310 GJB1 gap junction protein beta 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732555 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10093067|PMID:10102421|PMID:10207904|PMID:10220155|PMID:10234007|PMID:10487913|PMID:10521546|PMID:10586227|PMID:10586261|PMID:10586279|PMID:10586284|PMID:10586291|PMID:10587015|PMID:10639608|PMID:10646523|PMID:10732813|PMID:10737979|PMID:10848620|PMID:10873293|PMID:10894999|PMID:10923043|PMID:10931843|PMID:10938190|PMID:11030070|PMID:11085599|PMID:11140841|PMID:11180613|PMID:11257785|PMID:11271367|PMID:11325342|PMID:11393532|PMID:11404117|PMID:11437164|PMID:11438991|PMID:11545686|PMID:11562788|PMID:11571214|PMID:11723288|PMID:11835375|PMID:11891346|PMID:12111842|PMID:12185164|PMID:12207932|PMID:12325071|PMID:12362307|PMID:12402337|PMID:12460545|PMID:12477701|PMID:12497641|PMID:12536289|PMID:12542510|PMID:12614935|PMID:12707076|PMID:14607795|PMID:14627639|PMID:14663027|PMID:14680548|PMID:14960772|PMID:14991359|PMID:15006706|PMID:15241803|PMID:15468313|PMID:15574129|PMID:15719046|PMID:15852376|PMID:16079393|PMID:16096811|PMID:16401743|PMID:16476939|PMID:16688595|PMID:16912585|PMID:16922730|PMID:17100997|PMID:17297706|PMID:17353473|PMID:17620124|PMID:17714866|PMID:18254389|PMID:18379723|PMID:18380022|PMID:18380028|PMID:18636082|PMID:18717720|PMID:18846639|PMID:19062535|PMID:19259128|PMID:19335535|PMID:19369543|PMID:19448103|PMID:19691535|PMID:20039784|PMID:20128140|PMID:20193560|PMID:20435583|PMID:20593665|PMID:20857133|PMID:20942588|PMID:21104867|PMID:21149811|PMID:21254193|PMID:21280457|PMID:21291455|PMID:21300330|PMID:21309765|PMID:21326314|PMID:21607969|PMID:21692908|PMID:21922480|PMID:22159091|PMID:22243284|PMID:22464564|PMID:22771394|PMID:22820753|PMID:22944031|PMID:23011429|PMID:23106488|PMID:23209285|PMID:23232577|PMID:23279342|PMID:23384994|PMID:23649551|PMID:23827825|PMID:23838279|PMID:23871722|PMID:24053775|PMID:24078732|PMID:24170412|PMID:24444136|PMID:24627108|PMID:24768312|PMID:24958582|PMID:25025039|PMID:25043634|PMID:25086786|PMID:25388846|PMID:25429913|PMID:25595958|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25947624|PMID:26392352|PMID:26454100|PMID:26467025|PMID:27025386|PMID:27027447|PMID:27098783|PMID:27367520|PMID:27544631|PMID:27549087|PMID:27804109|PMID:27844031|PMID:28071741|PMID:28283593|PMID:28286897|PMID:28334782|PMID:28448691|PMID:28469099|PMID:28492532|PMID:28768847|PMID:29095325|PMID:30373780|PMID:31211173|PMID:31673878|PMID:32010055|PMID:32399692|PMID:33105617|PMID:33136338|PMID:7477983|PMID:7580242|PMID:7833935|PMID:7946361|PMID:8004109|PMID:8162049|PMID:8266101|PMID:8628473|PMID:8698335|PMID:8737658|PMID:8757034|PMID:8800924|PMID:8816997|PMID:8829637|PMID:8990008|PMID:9018031|PMID:9099841|PMID:9187667|PMID:9272161|PMID:9328258|PMID:9354338|PMID:9361298|PMID:9364054|PMID:9401007|PMID:9452099|PMID:9469569|PMID:9469571|PMID:9541114|PMID:9592087|PMID:9600589|PMID:9633821|PMID:9818870|PMID:9854984|PMID:9856562|PMID:9888385 11724310 GJB1 gap junction protein beta 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732555 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10093067|PMID:10102421|PMID:10207904|PMID:10220155|PMID:10234007|PMID:10487913|PMID:10521546|PMID:10586227|PMID:10586261|PMID:10586279|PMID:10586284|PMID:10586291|PMID:10587015|PMID:10639608|PMID:10646523|PMID:10732813|PMID:10737979|PMID:10848620|PMID:10873293|PMID:10894999|PMID:10923043|PMID:10931843|PMID:10938190|PMID:11030070|PMID:11085599|PMID:11140841|PMID:11180613|PMID:11257785|PMID:11271367|PMID:11325342|PMID:11393532|PMID:11404117|PMID:11437164|PMID:11438991|PMID:11545686|PMID:11562788|PMID:11571214|PMID:11723288|PMID:11835375|PMID:11891346|PMID:12111842|PMID:12185164|PMID:12207932|PMID:12325071|PMID:12362307|PMID:12402337|PMID:12460545|PMID:12477701|PMID:12497641|PMID:12536289|PMID:12542510|PMID:12614935|PMID:12707076|PMID:14607795|PMID:14627639|PMID:14663027|PMID:14680548|PMID:14960772|PMID:14991359|PMID:15006706|PMID:15241803|PMID:15468313|PMID:15574129|PMID:15719046|PMID:15852376|PMID:16079393|PMID:16096811|PMID:16401743|PMID:16476939|PMID:16688595|PMID:16912585|PMID:16922730|PMID:17100997|PMID:17297706|PMID:17353473|PMID:17620124|PMID:17714866|PMID:18254389|PMID:18379723|PMID:18380022|PMID:18380028|PMID:18636082|PMID:18717720|PMID:18846639|PMID:19062535|PMID:19259128|PMID:19335535|PMID:19369543|PMID:19448103|PMID:19691535|PMID:20039784|PMID:20128140|PMID:20193560|PMID:20301548|PMID:20435583|PMID:20593665|PMID:20857133|PMID:20942588|PMID:21104867|PMID:21149811|PMID:21254193|PMID:21280457|PMID:21291455|PMID:21300330|PMID:21309765|PMID:21326314|PMID:21607969|PMID:21692908|PMID:21922480|PMID:22159091|PMID:22243284|PMID:22464564|PMID:22771394|PMID:22820753|PMID:22944031|PMID:23011429|PMID:23106488|PMID:23209285|PMID:23232577|PMID:23279342|PMID:23384994|PMID:23649551|PMID:23827825|PMID:23838279|PMID:23871722|PMID:24053775|PMID:24078732|PMID:24170412|PMID:24444136|PMID:24627108|PMID:24768312|PMID:24958582|PMID:25025039|PMID:25043634|PMID:25086786|PMID:25388846|PMID:25429913|PMID:25595958|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25947624|PMID:26392352|PMID:26454100|PMID:26467025|PMID:27025386|PMID:27027447|PMID:27098783|PMID:27367520|PMID:27544631|PMID:27549087|PMID:27804109|PMID:27844031|PMID:28071741|PMID:28283593|PMID:28286897|PMID:28334782|PMID:28448691|PMID:28469099|PMID:28492532|PMID:28768847|PMID:29095325|PMID:30373780|PMID:31211173|PMID:31673878|PMID:32010055|PMID:32399692|PMID:33105617|PMID:33136338|PMID:7477983|PMID:7580242|PMID:7833935|PMID:7946361|PMID:8004109|PMID:8162049|PMID:8266101|PMID:8628473|PMID:8698335|PMID:8737658|PMID:8757034|PMID:8800924|PMID:8816997|PMID:8829637|PMID:8990008|PMID:9018031|PMID:9099841|PMID:9187667|PMID:9272161|PMID:9328258|PMID:9354338|PMID:9361298|PMID:9364054|PMID:9401007|PMID:9452099|PMID:9469569|PMID:9469571|PMID:9541114|PMID:9592087|PMID:9600589|PMID:9633821|PMID:9818870|PMID:9854984|PMID:9856562|PMID:9888385 11724310 GJB1 gap junction protein beta 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10093067|PMID:10102421|PMID:10207904|PMID:10220155|PMID:10234007|PMID:10400511|PMID:10487913|PMID:10521546|PMID:10586261|PMID:10586279|PMID:10586284|PMID:10586291|PMID:10587015|PMID:10639608|PMID:10646523|PMID:10732813|PMID:10737979|PMID:10848620|PMID:10873293|PMID:10894999|PMID:10923043|PMID:10931843|PMID:10938190|PMID:11030070|PMID:11085599|PMID:11140841|PMID:11180613|PMID:11252295|PMID:11257785|PMID:11266688|PMID:11271367|PMID:11325342|PMID:11393532|PMID:11404117|PMID:11437164|PMID:11438991|PMID:11545686|PMID:11562788|PMID:11571214|PMID:11723288|PMID:11835375|PMID:11891346|PMID:12111842|PMID:1211842|PMID:12185164|PMID:12207932|PMID:12325071|PMID:12362307|PMID:12402337|PMID:12457340|PMID:12460545|PMID:12477701|PMID:12497641|PMID:12536289|PMID:12542510|PMID:12614935|PMID:12707076|PMID:14607795|PMID:14627639|PMID:14663027|PMID:14663144|PMID:14680548|PMID:14960772|PMID:14991359|PMID:15006706|PMID:15241803|PMID:15468313|PMID:15574129|PMID:15719046|PMID:15852376|PMID:16079393|PMID:16096811|PMID:16401743|PMID:16476939|PMID:16688595|PMID:16912585|PMID:16922730|PMID:17100997|PMID:17297706|PMID:17353473|PMID:17620124|PMID:17646144|PMID:17714866|PMID:18254389|PMID:18379723|PMID:18380022|PMID:18380028|PMID:18636082|PMID:18714809|PMID:18717720|PMID:18846639|PMID:19062535|PMID:19259128|PMID:19297523|PMID:19335535|PMID:19369543|PMID:19448103|PMID:19468074|PMID:19691535|PMID:20039784|PMID:20128140|PMID:20193560|PMID:20301548|PMID:20491857|PMID:20593665|PMID:20730878|PMID:20857133|PMID:20942588|PMID:21104867|PMID:21149811|PMID:21254193|PMID:21280457|PMID:21282593|PMID:21291455|PMID:21300330|PMID:21309765|PMID:21326314|PMID:21607969|PMID:21692908|PMID:21922480|PMID:22243284|PMID:22464564|PMID:22771394|PMID:22820753|PMID:22944031|PMID:23011429|PMID:23106488|PMID:23209285|PMID:23232577|PMID:23279342|PMID:23384994|PMID:23649551|PMID:23827825|PMID:23838279|PMID:23871722|PMID:24053775|PMID:24078732|PMID:24170412|PMID:24444136|PMID:24627108|PMID:24768312|PMID:24958582|PMID:25025039|PMID:25043634|PMID:25086786|PMID:25388846|PMID:25429913|PMID:25595958|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25883816|PMID:25947624|PMID:25969535|PMID:26274329|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27098243|PMID:27098783|PMID:27228968|PMID:27234031|PMID:27367520|PMID:27544631|PMID:27549087|PMID:27804109|PMID:27812541|PMID:27844031|PMID:27862672|PMID:28071741|PMID:28283593|PMID:28286897|PMID:28334782|PMID:28448691|PMID:28469099|PMID:28492532|PMID:28768847|PMID:29086968|PMID:29095325|PMID:29245364|PMID:29462293|PMID:29629536|PMID:29998508|PMID:30196252|PMID:30340945|PMID:30373780|PMID:30737405|PMID:31119804|PMID:31211173|PMID:31220874|PMID:31323543|PMID:31372974|PMID:31673878|PMID:31842800|PMID:32010055|PMID:32022442|PMID:32376792|PMID:32399692|PMID:32903794|PMID:33105617|PMID:33136338|PMID:33314704|PMID:34089394|PMID:7477983|PMID:7580242|PMID:7833935|PMID:7946361|PMID:8004109|PMID:8162049|PMID:8266101|PMID:8304339|PMID:8628473|PMID:8698335|PMID:8737658|PMID:8757034|PMID:8800924|PMID:8816997|PMID:8829637|PMID:8990008|PMID:9018031|PMID:9099841|PMID:9187667|PMID:9272161|PMID:9328258|PMID:9354338|PMID:9361298|PMID:9364054|PMID:9401007|PMID:9452025|PMID:9452099|PMID:9469569|PMID:9469571|PMID:9541114|PMID:9592087|PMID:9600589|PMID:9633821|PMID:9818870|PMID:9854984|PMID:9856562|PMID:9888385 11724310 GJB1 gap junction protein beta 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732555 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:10093067|PMID:10102421|PMID:10207904|PMID:10220155|PMID:10234007|PMID:10400511|PMID:10487913|PMID:10521546|PMID:10586261|PMID:10586279|PMID:10586284|PMID:10586291|PMID:10587015|PMID:10639608|PMID:10646523|PMID:10671058|PMID:10732813|PMID:10737979|PMID:10848620|PMID:10873293|PMID:10894999|PMID:10923043|PMID:10931843|PMID:10938190|PMID:11030070|PMID:11085599|PMID:11140841|PMID:11180613|PMID:11252295|PMID:11257785|PMID:11266688|PMID:11271367|PMID:11325342|PMID:11393532|PMID:11404117|PMID:11437164|PMID:11438991|PMID:11545686|PMID:11562788|PMID:11571214|PMID:11723288|PMID:11835375|PMID:11891346|PMID:12111842|PMID:1211842|PMID:12185164|PMID:12207932|PMID:12325071|PMID:12362307|PMID:12402337|PMID:12457340|PMID:12460545|PMID:12477701|PMID:12497641|PMID:12536289|PMID:12542510|PMID:12614935|PMID:12707076|PMID:14607795|PMID:14627639|PMID:14663027|PMID:14663144|PMID:14680548|PMID:14960772|PMID:14991359|PMID:15006706|PMID:15241803|PMID:15468313|PMID:15574129|PMID:15719046|PMID:15852376|PMID:16079393|PMID:16096811|PMID:16401743|PMID:16476939|PMID:16688595|PMID:16912585|PMID:16922730|PMID:17100997|PMID:17297706|PMID:17353473|PMID:17620124|PMID:17646144|PMID:17714866|PMID:18254389|PMID:18379723|PMID:18380022|PMID:18380028|PMID:18636082|PMID:18714809|PMID:18717720|PMID:18846639|PMID:19062535|PMID:19259128|PMID:19297523|PMID:19335535|PMID:19369543|PMID:19448103|PMID:19468074|PMID:19691535|PMID:20039784|PMID:20128140|PMID:20193560|PMID:20301548|PMID:20491857|PMID:20593665|PMID:20730878|PMID:20857133|PMID:20942588|PMID:21104867|PMID:21149811|PMID:21254193|PMID:21280457|PMID:21282593|PMID:21291455|PMID:21300330|PMID:21309765|PMID:21326314|PMID:21607969|PMID:21692908|PMID:21918739|PMID:21922480|PMID:22243284|PMID:22464564|PMID:22771394|PMID:22820753|PMID:22944031|PMID:23011429|PMID:23106488|PMID:23209285|PMID:23232577|PMID:23279342|PMID:23384994|PMID:23649551|PMID:23827825|PMID:23838279|PMID:23871722|PMID:24053775|PMID:24078732|PMID:24170412|PMID:24444136|PMID:24627108|PMID:24768312|PMID:24958582|PMID:25025039|PMID:25043634|PMID:25086786|PMID:25388846|PMID:25429913|PMID:25595958|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25883816|PMID:25947624|PMID:25969535|PMID:26274329|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27098243|PMID:27098783|PMID:27228968|PMID:27234031|PMID:27367520|PMID:27544631|PMID:27549087|PMID:27804109|PMID:27812541|PMID:27844031|PMID:27862672|PMID:28071741|PMID:28283593|PMID:28286897|PMID:28334782|PMID:28448691|PMID:28469099|PMID:28492532|PMID:28768847|PMID:29086968|PMID:29095325|PMID:29245364|PMID:29462293|PMID:29629536|PMID:29998508|PMID:30196252|PMID:30340945|PMID:30373780|PMID:30737405|PMID:31119804|PMID:31211173|PMID:31220874|PMID:31323543|PMID:31372974|PMID:31673878|PMID:31827005|PMID:31842800|PMID:31920494|PMID:32010055|PMID:32022442|PMID:32376792|PMID:32399692|PMID:32903794|PMID:33105617|PMID:33136338|PMID:33314704|PMID:34089394|PMID:7477983|PMID:7580242|PMID:7833935|PMID:7946361|PMID:8004109|PMID:8162049|PMID:8266101|PMID:8304339|PMID:8628473|PMID:8698335|PMID:8737658|PMID:8757034|PMID:8800924|PMID:8816997|PMID:8829637|PMID:8990008|PMID:9018031|PMID:9099841|PMID:9187667|PMID:9272161|PMID:9328258|PMID:9354338|PMID:9361298|PMID:9364054|PMID:9401007|PMID:9452025|PMID:9452099|PMID:9469569|PMID:9469571|PMID:9541114|PMID:9592087|PMID:9600589|PMID:9633821|PMID:9818870|PMID:9854984|PMID:9856562|PMID:9888385 11724310 GJB1 gap junction protein beta 1 gene DOID:11720 distal myopathy ISO RGD:732555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal muscle weakness PMID:25741868 11724310 GJB1 gap junction protein beta 1 gene DOID:12849 autistic disorder ISO RGD:732555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11724310 GJB1 gap junction protein beta 1 gene DOID:13619 extrahepatic cholestasis ISO RGD:61926 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver: PMID:7762611|REF_RGD_ID:7349397 11724310 GJB1 gap junction protein beta 1 gene DOID:2491 sensory peripheral neuropathy ISO RGD:732555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensory neuropathy PMID:25741868 11724310 GJB1 gap junction protein beta 1 gene DOID:4450 renal cell carcinoma ISO RGD:732555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18264126 11724310 GJB1 gap junction protein beta 1 gene DOID:574 peripheral nervous system disease ISO RGD:732555 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10923043|PMID:11571214|PMID:12497641|PMID:15006706|PMID:15241803|PMID:17100997|PMID:22243284|PMID:23106488|PMID:25025039|PMID:25741868|PMID:26454100|PMID:27025386|PMID:27027447|PMID:27234031|PMID:27844031|PMID:28492532|PMID:32022442|PMID:7580242|PMID:9187667 11724310 GJB1 gap junction protein beta 1 gene DOID:630 genetic disease ISO RGD:732555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10093067|PMID:10102421|PMID:10207904|PMID:10234007|PMID:10521546|PMID:10586261|PMID:10586279|PMID:10586291|PMID:10639608|PMID:10646523|PMID:10732813|PMID:10737979|PMID:10848620|PMID:10873293|PMID:10923043|PMID:11271367|PMID:11325342|PMID:11393532|PMID:11571214|PMID:11718056|PMID:11835375|PMID:12111842|PMID:1211842|PMID:12402337|PMID:12460545|PMID:12477701|PMID:12497641|PMID:12542510|PMID:14627639|PMID:14663027|PMID:14706470|PMID:14960772|PMID:15006706|PMID:15241803|PMID:15719046|PMID:15852376|PMID:16079393|PMID:16096811|PMID:16476939|PMID:16912585|PMID:16922730|PMID:17100997|PMID:17353473|PMID:17646144|PMID:18254389|PMID:18379723|PMID:18636082|PMID:18714809|PMID:19062535|PMID:19193385|PMID:19259128|PMID:19297523|PMID:19369543|PMID:20039784|PMID:20128140|PMID:20301548|PMID:21149811|PMID:21254193|PMID:21291455|PMID:21309765|PMID:21692908|PMID:22243284|PMID:22464564|PMID:22771394|PMID:22820753|PMID:22944031|PMID:23106488|PMID:23209285|PMID:23649551|PMID:23871722|PMID:24078732|PMID:25025039|PMID:25429913|PMID:25614874|PMID:25741868|PMID:26454100|PMID:26467025|PMID:26955336|PMID:27025386|PMID:27027447|PMID:27098783|PMID:27228968|PMID:27544631|PMID:27549087|PMID:27804109|PMID:27844031|PMID:27862672|PMID:28071741|PMID:28286897|PMID:28334782|PMID:28448691|PMID:28469099|PMID:28492532|PMID:28768847|PMID:28797703|PMID:29077882|PMID:29095325|PMID:29245364|PMID:29462293|PMID:29629536|PMID:30340945|PMID:30373780|PMID:31211173|PMID:31220874|PMID:31323543|PMID:31372974|PMID:31842800|PMID:32010055|PMID:32022442|PMID:32376792|PMID:32399692|PMID:32903794|PMID:33136338|PMID:33314704|PMID:7477983|PMID:7580242|PMID:7946361|PMID:8004109|PMID:8162049|PMID:8266101|PMID:8304339|PMID:8698335|PMID:8737658|PMID:8800924|PMID:8816997|PMID:9018031|PMID:9187667|PMID:9272161|PMID:9328258|PMID:9354338|PMID:9361298|PMID:9364054|PMID:9401007|PMID:9469571|PMID:9592087|PMID:9600589|PMID:9633821 11724310 GJB1 gap junction protein beta 1 gene DOID:657 adenoma ISO RGD:732555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16926031 11724310 GJB1 gap junction protein beta 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17978847 11724310 GJB1 gap junction protein beta 1 gene DOID:7188 autoimmune thyroiditis ISO RGD:61926 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression, altered expression:thyroid gland: PMID:8770903|REF_RGD_ID:7349390 11724310 GJB1 gap junction protein beta 1 gene DOID:870 neuropathy ISO RGD:732555 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10923043|PMID:11571214|PMID:12497641|PMID:15006706|PMID:15241803|PMID:17100997|PMID:22243284|PMID:23106488|PMID:25025039|PMID:25741868|PMID:26454100|PMID:27025386|PMID:27027447|PMID:27234031|PMID:27844031|PMID:28492532|PMID:32022442|PMID:7580242|PMID:9187667 11724310 GJB1 gap junction protein beta 1 gene DOID:9000641 Pain ISO RGD:732555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pain PMID:16096811|PMID:21291455|PMID:22243284|PMID:25388846|PMID:25741868|PMID:26467025|PMID:28448691|PMID:28492532 11724310 GJB1 gap junction protein beta 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17978847 11724310 GJB1 gap junction protein beta 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:61926 D RGD:9068941 20200609 RGD PMID:1336494|REF_RGD_ID:7349398 11724310 GJB1 gap junction protein beta 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:732555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18308698 11724310 GJB1 gap junction protein beta 1 gene DOID:9004009 Reperfusion Injury ISO RGD:732555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25530438 11724310 GJB1 gap junction protein beta 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15492231|PMID:16926031 11724310 GJB1 gap junction protein beta 1 gene DOID:9007188 Liver Neoplasms ISO RGD:732555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2559087 11724310 GJB1 gap junction protein beta 1 gene DOID:9007898 FG Syndrome 1 ISO RGD:732555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 11724310 GJB1 gap junction protein beta 1 gene DOID:9008305 Talipes Cavus ISO RGD:732555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pes cavus PMID:25741868 11724310 GJB1 gap junction protein beta 1 gene DOID:9008681 Deafness treatment ISO RGD:62219 D RGD:9068941 20200609 RGD PMID:21813206|REF_RGD_ID:7364894 11724327 POU4F1 POU class 4 homeobox 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1346307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11724327 POU4F1 POU class 4 homeobox 1 gene DOID:630 genetic disease ISO RGD:1346307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11724327 POU4F1 POU class 4 homeobox 1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1346307 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:20190800 11724327 POU4F1 POU class 4 homeobox 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1346307 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21928122 11724327 POU4F1 POU class 4 homeobox 1 gene DOID:9006671 ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET ISO RGD:1346307 D RGD:7240710 20210811 OMIM 11724327 POU4F1 POU class 4 homeobox 1 gene DOID:9006671 ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET ISO RGD:1346307 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ataxia, intention tremor, and hypotonia syndrome, childhood-onset PMID:29758562|PMID:33783914 11724327 POU4F1 POU class 4 homeobox 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1346307 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 11724330 PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta gene DOID:0110604 primary ciliary dyskinesia 18 ISO RGD:1351287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 18 PMID:25741868|PMID:28492532|PMID:29363216 11724330 PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta gene DOID:10763 hypertension ISO RGD:11140 D RGD:9068941 20200609 RGD PMID:11161799|REF_RGD_ID:619653 11724330 PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta gene DOID:630 genetic disease ISO RGD:1351287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11724330 PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta gene DOID:9000495 Tremor ISO RGD:3392 D RGD:9068941 20211022 RGD PMID:33479380|REF_RGD_ID:150519900 11724330 PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta gene DOID:9003241 MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME ISO RGD:1351287 D RGD:7240710 20220209 OMIM 11724330 PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta gene DOID:9003241 MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME ISO RGD:1351287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marbach-Schaaf neurodevelopmental syndrome PMID:25741868|PMID:33833410 11724330 PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PRKAR1B-related neurodevelopmental disorder PMID:25741868|PMID:33833410 11724330 PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:24307375|PMID:25232951|PMID:25741868|PMID:28492532 11724348 THOC6 THO complex subunit 6 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1601739 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11724348 THOC6 THO complex subunit 6 gene DOID:1826 epilepsy ISO RGD:1601739 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11724348 THOC6 THO complex subunit 6 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1601739 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11724348 THOC6 THO complex subunit 6 gene DOID:630 genetic disease ISO RGD:1601739 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26739162|PMID:27102954|PMID:27295358|PMID:30476144|PMID:31421288|PMID:32790266 11724348 THOC6 THO complex subunit 6 gene DOID:9006768 Beaulieu-Boycott-Innes Syndrome ISO RGD:1601739 D RGD:7240710 20180130 OMIM 11724348 THOC6 THO complex subunit 6 gene DOID:9006768 Beaulieu-Boycott-Innes Syndrome ISO RGD:1601739 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome | ClinVar Annotator: match by term: Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations PMID:18414213|PMID:23621916|PMID:25741868|PMID:26739162|PMID:27102954|PMID:27295358|PMID:30238602|PMID:30476144|PMID:31421288|PMID:32790266 11724371 ANXA7 annexin A7 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:731625 D RGD:9068941 20200609 RGD protein:decreased expression:lymph node PMID:17708571|REF_RGD_ID:2292654 11724371 ANXA7 annexin A7 gene DOID:10283 prostate cancer ISO RGD:731625 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:17708571|REF_RGD_ID:2292654 11724371 ANXA7 annexin A7 gene DOID:1612 breast cancer disease_progression ISO RGD:731625 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:15073110|REF_RGD_ID:2292655 11724371 ANXA7 annexin A7 gene DOID:234 colon adenocarcinoma ISO RGD:731625 D RGD:9068941 20200609 RGD protein:decreased expression:colon PMID:17708571|REF_RGD_ID:2292654 11724371 ANXA7 annexin A7 gene DOID:2394 ovarian cancer ISO RGD:731625 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:17708571|REF_RGD_ID:2292654 11724371 ANXA7 annexin A7 gene DOID:4159 skin cancer ISO RGD:731625 D RGD:9068941 20200609 RGD protein:decreased expression:skin PMID:17708571|REF_RGD_ID:2292654 11724371 ANXA7 annexin A7 gene DOID:630 genetic disease ISO RGD:731625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11724371 ANXA7 annexin A7 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731625 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:increased expression:breast PMID:15073110|REF_RGD_ID:2292655 11724371 ANXA7 annexin A7 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731625 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;protein:decreased expression:prostate gland PMID:11287641|REF_RGD_ID:2292656 11724371 ANXA7 annexin A7 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:731625 D RGD:9068941 20200609 RGD protein:decreased expression:salivary gland PMID:17708571|REF_RGD_ID:2292654 11724371 ANXA7 annexin A7 gene DOID:9007188 Liver Neoplasms ISO RGD:731625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 11724454 ST8SIA6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1605541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11724454 ST8SIA6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 gene DOID:0080600 COVID-19 ISO RGD:1605541 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11724454 ST8SIA6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 gene DOID:10283 prostate cancer ISO RGD:1605541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11724454 ST8SIA6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 gene DOID:630 genetic disease ISO RGD:1605541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11724454 ST8SIA6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:1605541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532 11724480 LOC100972441 olfactory receptor 8H3 gene DOID:1059 intellectual disability ISO RGD:1348145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11724480 LOC100972441 olfactory receptor 8H3 gene DOID:630 genetic disease ISO RGD:1348145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11724481 COL16A1 collagen type XVI alpha 1 chain gene DOID:630 genetic disease ISO RGD:1322191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11724556 PP2D1 protein phosphatase 2C like domain containing 1 gene DOID:0060417 3p deletion syndrome ISO RGD:1604736 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:0050861 colorectal adenocarcinoma severity ISO RGD:733426 D RGD:9068941 20210423 RGD PMID:16507107|REF_RGD_ID:126781766 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:733426 D RGD:9068941 20210423 RGD PMID:19691460|REF_RGD_ID:126781771 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:0060074 ductal carcinoma in situ ISO RGD:733426 D RGD:9068941 20200609 RGD PMID:9470844|REF_RGD_ID:2289952 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:0060560 lethal congenital contracture syndrome 2 ISO RGD:733426 D RGD:7240710 20180130 OMIM 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:0060560 lethal congenital contracture syndrome 2 ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 2 PMID:17701904|PMID:25741868 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:733426 D RGD:9068941 20221020 CTD CTD Direct Evidence: marker/mechanism 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:0080679 neuronal intestinal dysplasia type A ISO RGD:733426 D RGD:7240710 20210818 OMIM 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:0080679 neuronal intestinal dysplasia type A ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visceral neuropathy, familial, 1, autosomal recessive PMID:25741868|PMID:33497358 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:10283 prostate cancer ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:733426 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:17532856|REF_RGD_ID:2289946 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:733426 D RGD:9068941 20200609 RGD PMID:16685269|REF_RGD_ID:2298502 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:14566 disease of cellular proliferation ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:23680147 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:2671 transitional cell carcinoma ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:26619011 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:733426 D RGD:9068941 20210423 RGD PMID:22549618|REF_RGD_ID:126790474 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69323 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:17908459|REF_RGD_ID:2289953 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:363 uterine cancer ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:26619011 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:3717 gastric adenocarcinoma ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:26619011 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:733426 D RGD:9068941 20210423 RGD PMID:11789762|REF_RGD_ID:126790479 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:733426 D RGD:9068941 20210423 RGD PMID:20364069|REF_RGD_ID:126790478 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:733426 D RGD:9068941 20210423 RGD PMID:26824984|REF_RGD_ID:126790475 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:4948 gallbladder carcinoma ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of gallbladder PMID:26619011 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:5517 stomach carcinoma disease_progression ISO RGD:733426 D RGD:9068941 20210423 RGD PMID:21709195|REF_RGD_ID:126781768 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:571 median neuropathy ISO RGD:69323 D RGD:9068941 20210423 RGD PMID:18845940|PMID:19296522|REF_RGD_ID:10449020|REF_RGD_ID:126790486 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:6171 uterine carcinosarcoma ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:26619011 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:630 genetic disease ISO RGD:733426 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:733426 D RGD:9068941 20210423 RGD PMID:11355950|REF_RGD_ID:126781769 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:733426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24997986 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:733426 D RGD:9068941 20210423 RGD PMID:24997986|REF_RGD_ID:126781772 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:69323 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord PMID:11797086|REF_RGD_ID:2289967 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000081 Lymphatic Metastasis ISO RGD:733426 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;protein:increased expression, altered localization:lymph node, nucleus PMID:17634423|REF_RGD_ID:2289944 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000081 Lymphatic Metastasis ISO RGD:733426 D RGD:9068941 20210423 RGD associated with head and neck squamous cell carcinoma PMID:20604875|REF_RGD_ID:126790467 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of stomach PMID:23680147 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000473 Familial Visceral Neuropathy ISO RGD:733426 D RGD:8554872 20221018 ClinVar ClinVar Annotator: match by term: Visceral neuropathy, familial PMID:25741868 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000918 Disease Progression ISO RGD:733426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21638049 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733426 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;protein:alternative form PMID:18559590|REF_RGD_ID:2298500 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733426 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;protein:increased expression, altered localization:bone, nucleus PMID:17634423|REF_RGD_ID:2289944 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:733426 D RGD:9068941 20210423 RGD associated with lung adenocarcinoma PMID:26254096|REF_RGD_ID:126790470 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17634423 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9002498 Wallerian Degeneration ISO RGD:69323 D RGD:9068941 20200609 RGD PMID:9030624|REF_RGD_ID:68774 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733426 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ovary PMID:18575766|REF_RGD_ID:2298499 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:733426 D RGD:9068941 20200609 RGD PMID:16896008|REF_RGD_ID:2298501 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9002801 Recurrence ISO RGD:733426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21638049 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9002928 Colonic Neoplasms ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colonic neoplasm PMID:23680147 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix PMID:26619011 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:733426 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17465227|REF_RGD_ID:2289947 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9004240 Phyllodes Tumor disease_progression ISO RGD:733426 D RGD:9068941 20200609 RGD PMID:11206334|REF_RGD_ID:2289951 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:733426 D RGD:9068941 20200609 RGD PMID:16962163|REF_RGD_ID:2289950 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9005172 Lung Neoplasms ISO RGD:733426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12483526 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733426 D RGD:9068941 20200609 RGD PMID:17203220|REF_RGD_ID:2289979 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9007364 Mouth Neoplasms ISO RGD:69323 D RGD:9068941 20200609 RGD protein:increased expression:oral epithelium PMID:17704947|REF_RGD_ID:2289941 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9007715 Endometrial Neoplasms ISO RGD:733426 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:10537356|REF_RGD_ID:2298505 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9008420 Familial Erythroleukemia ISO RGD:733426 D RGD:7240710 20230505 OMIM 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9008420 Familial Erythroleukemia ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DI GUGLIELMO DISEASE, FAMILIAL PMID:27416908 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:26619011 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9008939 Breast Neoplasms ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:26619011 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:733426 D RGD:9068941 20200609 RGD DNA:amplification PMID:18182100|REF_RGD_ID:2289942 11724570 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:733426 D RGD:9068941 20210423 RGD PMID:24825912|REF_RGD_ID:126781774 11724605 CEP295 centrosomal protein 295 gene DOID:0050778 Meckel syndrome ISO RGD:1602084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome 11724605 CEP295 centrosomal protein 295 gene DOID:1059 intellectual disability ISO RGD:1602084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11724605 CEP295 centrosomal protein 295 gene DOID:630 genetic disease ISO RGD:1602084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11724655 C6H6orf89 chromosome 6 C6orf89 homolog gene DOID:0050553 JMP syndrome ISO RGD:1348833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11724655 C6H6orf89 chromosome 6 C6orf89 homolog gene DOID:630 genetic disease ISO RGD:1348833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11724683 LOC100976458 zinc transporter ZIP1 gene DOID:0070048 GAND syndrome ISO RGD:1603540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GAND SYNDROME PMID:21681106 11724683 LOC100976458 zinc transporter ZIP1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1603540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11724683 LOC100976458 zinc transporter ZIP1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11724683 LOC100976458 zinc transporter ZIP1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11724683 LOC100976458 zinc transporter ZIP1 gene DOID:1540 parathyroid carcinoma ISO RGD:1603540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11724683 LOC100976458 zinc transporter ZIP1 gene DOID:5812 MHC class II deficiency ISO RGD:1603540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11724683 LOC100976458 zinc transporter ZIP1 gene DOID:630 genetic disease ISO RGD:1603540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11724683 LOC100976458 zinc transporter ZIP1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1308903 D RGD:9068941 20200609 RGD PMID:23595987|REF_RGD_ID:9685169 11724683 LOC100976458 zinc transporter ZIP1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11724683 LOC100976458 zinc transporter ZIP1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1308903 D RGD:9068941 20200609 RGD PMID:23595987|REF_RGD_ID:9685169 11724683 LOC100976458 zinc transporter ZIP1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:1308903 D RGD:9068941 20200609 RGD PMID:19706791|REF_RGD_ID:9685172 11724683 LOC100976458 zinc transporter ZIP1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:1332035 D RGD:9068941 20200609 RGD PMID:19706791|REF_RGD_ID:9685172 11724719 PLA2G4C phospholipase A2 group IVC gene DOID:630 genetic disease ISO RGD:1348684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11724739 PRKG2 protein kinase cGMP-dependent 2 gene DOID:0081238 acromesomelic dysplasia-4 ISO RGD:733228 D RGD:7240710 20211201 OMIM 11724739 PRKG2 protein kinase cGMP-dependent 2 gene DOID:0081238 acromesomelic dysplasia-4 ISO RGD:733228 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 4 PMID:33106379|PMID:34782440 11724739 PRKG2 protein kinase cGMP-dependent 2 gene DOID:630 genetic disease ISO RGD:733228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11724739 PRKG2 protein kinase cGMP-dependent 2 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:733228 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11724739 PRKG2 protein kinase cGMP-dependent 2 gene DOID:9002830 Spondylometaphyseal Dysplasia Pagnamenta Type ISO RGD:733228 D RGD:7240710 20211201 OMIM 11724739 PRKG2 protein kinase cGMP-dependent 2 gene DOID:9002830 Spondylometaphyseal Dysplasia Pagnamenta Type ISO RGD:733228 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, pagnamenta type PMID:34782440 11724739 PRKG2 protein kinase cGMP-dependent 2 gene DOID:9007661 Dwarfism ISO RGD:3401 D RGD:9068941 20211001 RGD DNA:deletion:cds (rat) PMID:15466490|PMID:19149413|REF_RGD_ID:150429792|REF_RGD_ID:150429793 11724776 CCN1 cellular communication network factor 1 gene DOID:0050651 atrioventricular septal defect ISO RGD:731721 D RGD:9068941 20220825 MouseDO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 11724776 CCN1 cellular communication network factor 1 gene DOID:0110106 atrial heart septal defect 1 ISO RGD:731721 D RGD:9068941 20220825 MouseDO OMIM:108800 11724776 CCN1 cellular communication network factor 1 gene DOID:418 systemic scleroderma ISO RGD:731720 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27482699 11724776 CCN1 cellular communication network factor 1 gene DOID:630 genetic disease ISO RGD:731720 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11724776 CCN1 cellular communication network factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:731720 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17699798 11724776 CCN1 cellular communication network factor 1 gene DOID:7148 rheumatoid arthritis ISO RGD:731720 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 11724776 CCN1 cellular communication network factor 1 gene DOID:9002457 Experimental Arthritis ameliorates ISO RGD:620763 D RGD:9068941 20210924 RGD PMID:27653023|REF_RGD_ID:150429754 11724776 CCN1 cellular communication network factor 1 gene DOID:9005172 Lung Neoplasms ISO RGD:731720 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 11724810 NPC2 NPC intracellular cholesterol transporter 2 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1353089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:11125141|PMID:11333381|PMID:11567215|PMID:12955717|PMID:15465422|PMID:15937921|PMID:16126423|PMID:16757520|PMID:17470133|PMID:18772377|PMID:19252935|PMID:20301473|PMID:21084287|PMID:22073306|PMID:23352160|PMID:23433426|PMID:23773996|PMID:23791309|PMID:24386122|PMID:24767253|PMID:25038260|PMID:25145893|PMID:25236789|PMID:25741868|PMID:25764212|PMID:25772320|PMID:26666848|PMID:26981555|PMID:27792009|PMID:28095804|PMID:28492532|PMID:28808920|PMID:29928259|PMID:30548430|PMID:32138288 11724810 NPC2 NPC intracellular cholesterol transporter 2 gene DOID:0070114 Niemann-Pick disease type C2 ISO RGD:1353089 D RGD:7240710 20180130 OMIM 11724810 NPC2 NPC intracellular cholesterol transporter 2 gene DOID:0070114 Niemann-Pick disease type C2 ISO RGD:1353089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C2 PMID:11125141|PMID:11333381|PMID:11567215|PMID:12447927|PMID:12955717|PMID:15465422|PMID:15937921|PMID:16126423|PMID:16167124|PMID:16757520|PMID:17470133|PMID:17576681|PMID:18081003|PMID:18772377|PMID:19252935|PMID:20301473|PMID:21084287|PMID:22073306|PMID:22676771|PMID:23352160|PMID:23433426|PMID:23773996|PMID:23791309|PMID:24082139|PMID:24386122|PMID:24767253|PMID:24915861|PMID:25038260|PMID:25145893|PMID:25236789|PMID:25326635|PMID:25558065|PMID:25741868|PMID:25764212|PMID:25772320|PMID:26206375|PMID:26338816|PMID:26666848|PMID:26981555|PMID:27271431|PMID:27792009|PMID:28095804|PMID:28105569|PMID:28492532|PMID:28808920|PMID:29928259|PMID:30548430|PMID:32138288|PMID:9536098 11724810 NPC2 NPC intracellular cholesterol transporter 2 gene DOID:1059 intellectual disability ISO RGD:1353089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11724810 NPC2 NPC intracellular cholesterol transporter 2 gene DOID:14504 Niemann-Pick disease ISO RGD:1353089 D RGD:9068941 20200609 RGD DNA:mutation:multiple PMID:11567215|REF_RGD_ID:1601483 11724810 NPC2 NPC intracellular cholesterol transporter 2 gene DOID:14504 Niemann-Pick disease ISO RGD:1553506 D RGD:9068941 20220825 MouseDO 11724810 NPC2 NPC intracellular cholesterol transporter 2 gene DOID:630 genetic disease ISO RGD:1353089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15937921|PMID:20301473|PMID:24386122|PMID:25145893|PMID:25741868|PMID:26338816|PMID:28095804|PMID:28492532 11724810 NPC2 NPC intracellular cholesterol transporter 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1353089 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:12955717|PMID:15937921|PMID:25558065|PMID:25741868|PMID:25764212|PMID:28492532 11724831 TBCD tubulin folding cofactor D gene DOID:0060455 Thiel-Behnke corneal dystrophy ISO RGD:1317676 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thiel-Behnke corneal dystrophy PMID:25741868|PMID:28492532 11724831 TBCD tubulin folding cofactor D gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1317676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27666370 11724831 TBCD tubulin folding cofactor D gene DOID:1059 intellectual disability ISO RGD:1317676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27666370 11724831 TBCD tubulin folding cofactor D gene DOID:10907 microcephaly ISO RGD:1317676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27666370|PMID:27666374 11724831 TBCD tubulin folding cofactor D gene DOID:11162 respiratory failure ISO RGD:1317676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27666374 11724831 TBCD tubulin folding cofactor D gene DOID:12835 quadriplegia ISO RGD:1317676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27666370 11724831 TBCD tubulin folding cofactor D gene DOID:1289 neurodegenerative disease ISO RGD:1317676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27666370 11724831 TBCD tubulin folding cofactor D gene DOID:5723 optic atrophy ISO RGD:1317676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27666370 11724831 TBCD tubulin folding cofactor D gene DOID:630 genetic disease ISO RGD:1317676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33190326 11724831 TBCD tubulin folding cofactor D gene DOID:9000707 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM ISO RGD:1317676 D RGD:7240710 20190315 OMIM 11724831 TBCD tubulin folding cofactor D gene DOID:9000707 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM ISO RGD:1317676 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum PMID:16199547|PMID:25741868|PMID:27666370|PMID:27666374|PMID:27807845|PMID:28158450|PMID:28492532|PMID:29769041|PMID:30426380|PMID:31019026|PMID:31240573|PMID:31395954|PMID:31569255|PMID:32705489|PMID:33190326|PMID:34120799|PMID:35586607 11724831 TBCD tubulin folding cofactor D gene DOID:9001638 Seborrhea-Like Dermatitis with Psoriasiform Elements ISO RGD:1317676 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seborrhea-like dermatitis with psoriasiform elements PMID:16751772|PMID:25741868 11724831 TBCD tubulin folding cofactor D gene DOID:9005532 Muscle Weakness ISO RGD:1317676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27666374 11724831 TBCD tubulin folding cofactor D gene DOID:9008086 Developmental Disabilities ISO RGD:1317676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27666370 11724875 LZTS1 leucine zipper tumor suppressor 1 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:736900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 11724875 LZTS1 leucine zipper tumor suppressor 1 gene DOID:1749 squamous cell carcinoma ISO RGD:736900 D RGD:9068941 20200609 RGD esophageal squamous cell carcinoma, OMIM:133239 PMID:10097140|REF_RGD_ID:1600104 11724875 LZTS1 leucine zipper tumor suppressor 1 gene DOID:3459 breast carcinoma ISO RGD:736900 D RGD:9068941 20220421 RGD mRNA, protein:decreased exoression:breast, tumor (human) PMID:18686028|REF_RGD_ID:151893465 11724875 LZTS1 leucine zipper tumor suppressor 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic PMID:10097140 11724875 LZTS1 leucine zipper tumor suppressor 1 gene DOID:5041 esophageal cancer ISO RGD:736900 D RGD:7240710 20180418 OMIM 11724875 LZTS1 leucine zipper tumor suppressor 1 gene DOID:630 genetic disease ISO RGD:736900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11724875 LZTS1 leucine zipper tumor suppressor 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:736900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11724875 LZTS1 leucine zipper tumor suppressor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12377406 11724886 CCDC34 coiled-coil domain containing 34 gene DOID:0111910 spermatogenic failure ISO RGD:1619187 D RGD:9068941 20230323 MouseDO 11724886 CCDC34 coiled-coil domain containing 34 gene DOID:1059 intellectual disability ISO RGD:1606993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11724886 CCDC34 coiled-coil domain containing 34 gene DOID:630 genetic disease ISO RGD:1606993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11724886 CCDC34 coiled-coil domain containing 34 gene DOID:9002551 Spermatogenic Failure 76 ISO RGD:1606993 D RGD:7240710 20221102 OMIM 11724886 CCDC34 coiled-coil domain containing 34 gene DOID:9002551 Spermatogenic Failure 76 ISO RGD:1606993 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 76 PMID:34348960 11724903 ARAP1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1321262 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11724903 ARAP1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 gene DOID:1059 intellectual disability ISO RGD:1321262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11724903 ARAP1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 gene DOID:630 genetic disease ISO RGD:1321262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11724973 PDE3A phosphodiesterase 3A gene DOID:0060903 thrombosis ISO RGD:734436 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17482796 11724973 PDE3A phosphodiesterase 3A gene DOID:0111247 hypertension and brachydactyly syndrome ISO RGD:734436 D RGD:7240710 20180130 OMIM 11724973 PDE3A phosphodiesterase 3A gene DOID:0111247 hypertension and brachydactyly syndrome ISO RGD:734436 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bilginturan syndrome PMID:25741868|PMID:25961942|PMID:28492532|PMID:4774535 11724973 PDE3A phosphodiesterase 3A gene DOID:10283 prostate cancer ISO RGD:734436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11724973 PDE3A phosphodiesterase 3A gene DOID:5844 myocardial infarction ISO RGD:734436 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19027736 11724973 PDE3A phosphodiesterase 3A gene DOID:630 genetic disease ISO RGD:734436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25961942|PMID:28492532|PMID:4774535 11724973 PDE3A phosphodiesterase 3A gene DOID:6432 pulmonary hypertension ISO RGD:61942 D RGD:9068941 20200609 RGD mRNA:increased expression:pulmonary artery PMID:12466227|REF_RGD_ID:1582528 11724973 PDE3A phosphodiesterase 3A gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:61942 D RGD:9068941 20200609 RGD PMID:12834273|REF_RGD_ID:2312523 11724973 PDE3A phosphodiesterase 3A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61942 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:mesenteric artery PMID:12793980|REF_RGD_ID:2300416 11724973 PDE3A phosphodiesterase 3A gene DOID:9007096 Stroke ISO RGD:734436 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 11724973 PDE3A phosphodiesterase 3A gene DOID:9970 obesity ISO RGD:61942 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:9648839|REF_RGD_ID:2300415 11724992 GM2A ganglioside GM2 activator gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353976 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11724992 GM2A ganglioside GM2 activator gene DOID:1289 neurodegenerative disease ISO RGD:1353976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegenerative illness progressing to crippling dystonia and death with relentless cerebral atrophy PMID:25558065|PMID:26203402|PMID:28417072|PMID:28492532|PMID:33456446 11724992 GM2A ganglioside GM2 activator gene DOID:3320 Tay-Sachs disease ISO RGD:1353976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease 11724992 GM2A ganglioside GM2 activator gene DOID:3321 GM2 gangliosidosis ISO RGD:1353976 D RGD:9068941 20200609 RGD Tay-Sachs Disease, AB Variant PMID:10364519|REF_RGD_ID:1598993 11724992 GM2A ganglioside GM2 activator gene DOID:4795 GM2 Gangliosidosis, AB variant ISO RGD:1353976 D RGD:7240710 20180130 OMIM 11724992 GM2A ganglioside GM2 activator gene DOID:4795 GM2 Gangliosidosis, AB variant ISO RGD:1353976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease, variant AB PMID:10364519|PMID:1570834|PMID:174379|PMID:17576681|PMID:1915858|PMID:24767253|PMID:25558065|PMID:25741868|PMID:26082327|PMID:26203402|PMID:28417072|PMID:28492532|PMID:33456446|PMID:8244332|PMID:8900233|PMID:9536098 11724992 GM2A ganglioside GM2 activator gene DOID:630 genetic disease ISO RGD:1353976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11724992 GM2A ganglioside GM2 activator gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353976 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11725000 FTL ferritin light chain gene DOID:0080600 COVID-19 severity ISO RGD:1346340 D RGD:9068941 20200625 RGD associated with hyperglycemia;protein:increased expression:serum (human) PMID:32406594|REF_RGD_ID:32698682 11725000 FTL ferritin light chain gene DOID:0080600 COVID-19 severity ISO RGD:1346340 D RGD:9068941 20200625 RGD protein:increased expression:serum (human) PMID:32365221|REF_RGD_ID:30310229 11725000 FTL ferritin light chain gene DOID:0110737 neurodegeneration with brain iron accumulation 3 ISO RGD:1346340 D RGD:7240710 20180130 OMIM 11725000 FTL ferritin light chain gene DOID:0110737 neurodegeneration with brain iron accumulation 3 ISO RGD:1346340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuroferritinopathy PMID:11438811|PMID:12746423|PMID:16116125|PMID:17182944|PMID:18413574|PMID:18414213|PMID:18854324|PMID:25741868|PMID:25832658|PMID:28492532 11725000 FTL ferritin light chain gene DOID:0111256 hyperferritinemia-cataract syndrome ISO RGD:1346340 D RGD:7240710 20180130 OMIM 11725000 FTL ferritin light chain gene DOID:0111256 hyperferritinemia-cataract syndrome ISO RGD:1346340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts PMID:10366790|PMID:10366804|PMID:10383191|PMID:10759702|PMID:11438811|PMID:11703332|PMID:11849230|PMID:12199804|PMID:12200611|PMID:12670350|PMID:12730114|PMID:12746423|PMID:14662596|PMID:15173247|PMID:15690351|PMID:16518306|PMID:16900584|PMID:17182944|PMID:17576681|PMID:18414213|PMID:18710380|PMID:18854324|PMID:19176363|PMID:19800271|PMID:21541272|PMID:21907119|PMID:22881709|PMID:23300176|PMID:23421845|PMID:23592921|PMID:24766965|PMID:25741868|PMID:25832658|PMID:26633542|PMID:26849797|PMID:27096259|PMID:28492532|PMID:28746593|PMID:29269865|PMID:30401656|PMID:30678075|PMID:32241646|PMID:7492760|PMID:7493028|PMID:7669675|PMID:8233801|PMID:8781450|PMID:9226182|PMID:9292547|PMID:9414300|PMID:9414313|PMID:9536098|PMID:9726965 11725000 FTL ferritin light chain gene DOID:1289 neurodegenerative disease ISO RGD:1346340 D RGD:9068941 20200609 RGD DNA:insertion:exon:498_499InsTC (human) PMID:15099026|REF_RGD_ID:5509840 11725000 FTL ferritin light chain gene DOID:1289 neurodegenerative disease ISO RGD:1346340 D RGD:9068941 20200609 RGD DNA:insertion:exon:498_499insTC PMID:19519778|REF_RGD_ID:5509863 11725000 FTL ferritin light chain gene DOID:1289 neurodegenerative disease ISO RGD:62105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 11725000 FTL ferritin light chain gene DOID:1289 neurodegenerative disease ISO RGD:62105 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19519778|REF_RGD_ID:5509863 11725000 FTL ferritin light chain gene DOID:1596 depressive disorder ISO RGD:1346340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17063146 11725000 FTL ferritin light chain gene DOID:2351 iron metabolism disease ISO RGD:1346340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16822677 11725000 FTL ferritin light chain gene DOID:630 genetic disease ISO RGD:1346340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23940258|PMID:28492532 11725000 FTL ferritin light chain gene DOID:679 basal ganglia disease ISO RGD:1346340 D RGD:9068941 20200609 RGD DNA:insertion:exon:460_461insA(human) PMID:11438811|REF_RGD_ID:5509839 11725000 FTL ferritin light chain gene DOID:7693 abdominal aortic aneurysm ISO RGD:1346340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm PMID:17182944|PMID:18414213|PMID:25741868|PMID:28492532 11725000 FTL ferritin light chain gene DOID:8398 osteoarthritis ISO RGD:1346340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11725000 FTL ferritin light chain gene DOID:9000058 Keloid ISO RGD:1346340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 11725000 FTL ferritin light chain gene DOID:9000965 Neoplasm Metastasis ISO RGD:1346340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 11725000 FTL ferritin light chain gene DOID:9001196 Nervous System Heredodegenerative Disorders ISO RGD:1346340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16825958 11725000 FTL ferritin light chain gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1346340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20390345 11725000 FTL ferritin light chain gene DOID:9004878 L-Ferritin Deficiency ISO RGD:1346340 D RGD:7240710 20180130 OMIM 11725000 FTL ferritin light chain gene DOID:9004878 L-Ferritin Deficiency ISO RGD:1346340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: L-ferritin deficiency | ClinVar Annotator: match by term: L-ferritin deficiency, autosomal recessive PMID:15173247|PMID:17182944|PMID:18414213|PMID:23940258|PMID:25741868|PMID:28492532|PMID:30678075 11725000 FTL ferritin light chain gene DOID:9005648 Glycogen Storage Disease 0, Muscle ISO RGD:1346340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycogen storage disease 0, muscle | ClinVar Annotator: match by term: Muscle glycogen synthase deficiency PMID:17182944|PMID:18414213|PMID:25741868|PMID:28492532 11725000 FTL ferritin light chain gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:62105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11725000 FTL ferritin light chain gene DOID:9970 obesity ISO RGD:1346340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 11725015 WWOX WW domain containing oxidoreductase gene DOID:0050562 West syndrome ISO RGD:1320534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive PMID:25741868|PMID:28492532|PMID:29808465|PMID:30356099|PMID:30853297 11725015 WWOX WW domain containing oxidoreductase gene DOID:0060041 autism spectrum disorder ISO RGD:1320534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11725015 WWOX WW domain containing oxidoreductase gene DOID:0080060 autosomal recessive spinocerebellar ataxia 12 ISO RGD:1320534 D RGD:7240710 20180130 OMIM 11725015 WWOX WW domain containing oxidoreductase gene DOID:0080060 autosomal recessive spinocerebellar ataxia 12 ISO RGD:1320534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12 | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY PMID:11572989|PMID:16199547|PMID:17470496|PMID:17576681|PMID:20480411|PMID:21983861|PMID:24082139|PMID:24369382|PMID:24456803|PMID:25411445|PMID:25612104|PMID:25741868|PMID:26467025|PMID:27884173|PMID:27959697|PMID:28492532|PMID:29358611|PMID:29675105|PMID:29808465|PMID:29905011|PMID:30356099|PMID:30853297|PMID:31216405|PMID:32214227|PMID:9536098 11725015 WWOX WW domain containing oxidoreductase gene DOID:0080452 developmental and epileptic encephalopathy 28 ISO RGD:1320534 D RGD:7240710 20180130 OMIM 11725015 WWOX WW domain containing oxidoreductase gene DOID:0080452 developmental and epileptic encephalopathy 28 ISO RGD:1320534 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 28 PMID:11572989|PMID:16199547|PMID:17576681|PMID:20480411|PMID:21983861|PMID:24082139|PMID:24456803|PMID:25411445|PMID:25558065|PMID:25612104|PMID:25741868|PMID:26467025|PMID:27717089|PMID:27848944|PMID:27884173|PMID:28492532|PMID:29358611|PMID:29675105|PMID:29808465|PMID:29852413|PMID:29905011|PMID:30356099|PMID:30746283|PMID:30853297|PMID:30919572|PMID:31216405|PMID:31618474|PMID:31623504|PMID:9536098 11725015 WWOX WW domain containing oxidoreductase gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1320534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome | ClinVar Annotator: match by term: X-linked infantile spasms PMID:11572989|PMID:11956080|PMID:16199547|PMID:17576681|PMID:20480411|PMID:21983861|PMID:24082139|PMID:24369382|PMID:24456803|PMID:25403906|PMID:25411445|PMID:25558065|PMID:25612104|PMID:25640679|PMID:25741868|PMID:26077850|PMID:26467025|PMID:27495153|PMID:27569545|PMID:27717089|PMID:27848944|PMID:27884173|PMID:27959697|PMID:28130116|PMID:28492532|PMID:29358611|PMID:29390993|PMID:29675105|PMID:29808465|PMID:29852413|PMID:29905011|PMID:30356099|PMID:30746283|PMID:30853297|PMID:30919572|PMID:31130284|PMID:31216405|PMID:31618474|PMID:31623504|PMID:31780880|PMID:31957018|PMID:9536098 11725015 WWOX WW domain containing oxidoreductase gene DOID:0110256 cataract 21 multiple types ISO RGD:1320534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 21 multiple types PMID:28492532 11725015 WWOX WW domain containing oxidoreductase gene DOID:1059 intellectual disability ISO RGD:1320534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11725015 WWOX WW domain containing oxidoreductase gene DOID:10652 Alzheimer's disease ISO RGD:1320534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30820047 11725015 WWOX WW domain containing oxidoreductase gene DOID:13374 fibrodysplasia ossificans progressiva ISO RGD:1320534 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Progressive myositis ossificans PMID:25741868 11725015 WWOX WW domain containing oxidoreductase gene DOID:1749 squamous cell carcinoma ISO RGD:1320534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17575124 11725015 WWOX WW domain containing oxidoreductase gene DOID:1749 squamous cell carcinoma ISO RGD:1320534 D RGD:9068941 20200609 RGD esophageal squamous cell carcinoma, OMIM:133239 PMID:11956080|REF_RGD_ID:1599874 11725015 WWOX WW domain containing oxidoreductase gene DOID:1826 epilepsy ISO RGD:1320534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11725015 WWOX WW domain containing oxidoreductase gene DOID:1923 disorder of sexual development ISO RGD:1320534 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 11725015 WWOX WW domain containing oxidoreductase gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1320534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 11725015 WWOX WW domain containing oxidoreductase gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1320534 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic PMID:11956080|PMID:28492532 11725015 WWOX WW domain containing oxidoreductase gene DOID:5041 esophageal cancer ISO RGD:1320534 D RGD:7240710 20180418 OMIM 11725015 WWOX WW domain containing oxidoreductase gene DOID:5041 esophageal cancer ISO RGD:1320534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Esophagus cancer PMID:24456803|PMID:25411445|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611|PMID:29808465|PMID:30356099|PMID:30853297 11725015 WWOX WW domain containing oxidoreductase gene DOID:5419 schizophrenia ISO RGD:1320534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11725015 WWOX WW domain containing oxidoreductase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1320534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 11725015 WWOX WW domain containing oxidoreductase gene DOID:630 genetic disease ISO RGD:1320534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24456803|PMID:25411445|PMID:25741868|PMID:26467025|PMID:28492532 11725015 WWOX WW domain containing oxidoreductase gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1320534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11725015 WWOX WW domain containing oxidoreductase gene DOID:9000117 Esophageal Neoplasms ISO RGD:1320534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11725015 WWOX WW domain containing oxidoreductase gene DOID:9000217 Stomach Neoplasms ISO RGD:1320534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17575124 11725015 WWOX WW domain containing oxidoreductase gene DOID:9001793 Generalized Epilepsy ISO RGD:1320534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:24456803|PMID:25411445|PMID:25741868|PMID:27848944|PMID:28492532|PMID:31623504 11725015 WWOX WW domain containing oxidoreductase gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1320534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11725015 WWOX WW domain containing oxidoreductase gene DOID:9002563 Gait Ataxia ISO RGD:1309927 D RGD:9068941 20211022 RGD compared to wild type and heterozygotes PMID:17803050|REF_RGD_ID:150429978 11725015 WWOX WW domain containing oxidoreductase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorders 11725015 WWOX WW domain containing oxidoreductase gene DOID:9004643 Urologic Neoplasms ISO RGD:1320534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23618899 11725015 WWOX WW domain containing oxidoreductase gene DOID:9006534 Nervous System Malformations ISO RGD:1320534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:28492532|PMID:29808465|PMID:30356099|PMID:30853297 11725015 WWOX WW domain containing oxidoreductase gene DOID:9007661 Dwarfism ISO RGD:1309927 D RGD:9068941 20211008 RGD DNA:deletion:cds:exon 9, 13bp nucleotides 1190-1202 PMID:19500159|REF_RGD_ID:150429979 11725015 WWOX WW domain containing oxidoreductase gene DOID:9007661 Dwarfism ISO RGD:1309927 D RGD:9068941 20211022 RGD compared to wild type and heterozygotes PMID:17803050|PMID:18676360|REF_RGD_ID:150429974|REF_RGD_ID:150429978 11725015 WWOX WW domain containing oxidoreductase gene DOID:9008086 Developmental Disabilities ISO RGD:1320534 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay PMID:16199547|PMID:24456803|PMID:25411445|PMID:25558065|PMID:25741868|PMID:27717089|PMID:28492532|PMID:29852413|PMID:36937954 11725015 WWOX WW domain containing oxidoreductase gene DOID:9008939 Breast Neoplasms ISO RGD:1320534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17200365 11725031 NT5C1A 5'-nucleotidase, cytosolic IA gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1322084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11725031 NT5C1A 5'-nucleotidase, cytosolic IA gene DOID:630 genetic disease ISO RGD:1322084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725041 TTLL3 tubulin tyrosine ligase like 3 gene DOID:2843 long QT syndrome ISO RGD:1322614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11725041 TTLL3 tubulin tyrosine ligase like 3 gene DOID:630 genetic disease ISO RGD:1322614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725041 TTLL3 tubulin tyrosine ligase like 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11725041 TTLL3 tubulin tyrosine ligase like 3 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1322614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 11725059 NGF nerve growth factor gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11725059 NGF nerve growth factor gene DOID:0050848 obstructive sleep apnea ISO RGD:1352304 D RGD:9068941 20200609 RGD PMID:17667845|REF_RGD_ID:5144120 11725059 NGF nerve growth factor gene DOID:0050850 diabetic encephalopathy treatment ISO RGD:10978 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23528019|REF_RGD_ID:7242845 11725059 NGF nerve growth factor gene DOID:0070145 hereditary sensory and autonomic neuropathy type 5 ISO RGD:1352304 D RGD:7240710 20180130 OMIM 11725059 NGF nerve growth factor gene DOID:0070145 hereditary sensory and autonomic neuropathy type 5 ISO RGD:1352304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar Annotator: match by term: HSAN Type V PMID:14976160|PMID:18420729|PMID:19038341|PMID:19945432|PMID:20978020|PMID:21358750|PMID:21387003|PMID:22330829|PMID:25741868|PMID:26215504|PMID:28492532|PMID:30296891|PMID:32693191 11725059 NGF nerve growth factor gene DOID:0070355 overactive bladder syndrome ISO RGD:10978 D RGD:9068941 20200609 RGD associated with Cystitis;protein:increased expression:urine PMID:21717507|REF_RGD_ID:7242779 11725059 NGF nerve growth factor gene DOID:0070355 overactive bladder syndrome ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16600756 11725059 NGF nerve growth factor gene DOID:0070355 overactive bladder syndrome ISO RGD:1352304 D RGD:9068941 20200609 RGD PMID:17050722|REF_RGD_ID:7242798 11725059 NGF nerve growth factor gene DOID:0070355 overactive bladder syndrome ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21826717|REF_RGD_ID:7242778 11725059 NGF nerve growth factor gene DOID:0070355 overactive bladder syndrome treatment ISO RGD:1598328 D RGD:9068941 20200609 RGD associated with Cystitis PMID:21605172|REF_RGD_ID:7242780 11725059 NGF nerve growth factor gene DOID:0070355 overactive bladder syndrome treatment ISO RGD:1598328 D RGD:9068941 20200609 RGD associated with Hypertension PMID:22473863|REF_RGD_ID:7242775 11725059 NGF nerve growth factor gene DOID:0080690 RASopathy ISO RGD:1352304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11725059 NGF nerve growth factor gene DOID:0080855 Parkinsonism ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19694610 11725059 NGF nerve growth factor gene DOID:10003 sensorineural hearing loss ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:14587217|REF_RGD_ID:8655553 11725059 NGF nerve growth factor gene DOID:10584 retinitis pigmentosa ISO RGD:1598328 D RGD:9068941 20200609 RGD protein:decreased expression:lacrimal gland PMID:20595895|REF_RGD_ID:4891133 11725059 NGF nerve growth factor gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1352304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:20978020|PMID:22302274|PMID:28492532 11725059 NGF nerve growth factor gene DOID:1063 interstitial nephritis ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16889433 11725059 NGF nerve growth factor gene DOID:10652 Alzheimer's disease ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:21368378|REF_RGD_ID:5144128 11725059 NGF nerve growth factor gene DOID:10763 hypertension ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:10797303|REF_RGD_ID:5144109 11725059 NGF nerve growth factor gene DOID:10914 amnestic disorder ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16405025|PMID:19694610 11725059 NGF nerve growth factor gene DOID:11446 sciatic neuropathy treatment ISO RGD:10978 D RGD:9068941 20200609 RGD PMID:22776032|REF_RGD_ID:7242913 11725059 NGF nerve growth factor gene DOID:12143 neurogenic bladder ISO RGD:1352304 D RGD:9068941 20200609 RGD associated with Meningomyelocele;protein:increased expression:urine PMID:23301927|REF_RGD_ID:7242771 11725059 NGF nerve growth factor gene DOID:12143 neurogenic bladder treatment ISO RGD:1598328 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries PMID:22220508|REF_RGD_ID:7242776 11725059 NGF nerve growth factor gene DOID:12217 Lewy body dementia ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 11725059 NGF nerve growth factor gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:19824047|REF_RGD_ID:4891065 11725059 NGF nerve growth factor gene DOID:1289 neurodegenerative disease ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24244623 11725059 NGF nerve growth factor gene DOID:13406 pulmonary sarcoidosis ISO RGD:1352304 D RGD:9068941 20200609 RGD PMID:16315781|REF_RGD_ID:4891110 11725059 NGF nerve growth factor gene DOID:13406 pulmonary sarcoidosis ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:21059230|REF_RGD_ID:5144061 11725059 NGF nerve growth factor gene DOID:13948 bladder neck obstruction treatment ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:22795377|REF_RGD_ID:7242774 11725059 NGF nerve growth factor gene DOID:13949 interstitial cystitis ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:increased expression:serum, urine PMID:23028581|REF_RGD_ID:7242773 11725059 NGF nerve growth factor gene DOID:13949 interstitial cystitis treatment ISO RGD:10978 D RGD:9068941 20200609 RGD PMID:18162370|REF_RGD_ID:7242805 11725059 NGF nerve growth factor gene DOID:13949 interstitial cystitis treatment ISO RGD:1352304 D RGD:9068941 20200609 RGD PMID:20227820|REF_RGD_ID:7242781 11725059 NGF nerve growth factor gene DOID:14330 Parkinson's disease ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 11725059 NGF nerve growth factor gene DOID:1459 hypothyroidism ISO RGD:1598328 D RGD:9068941 20200609 RGD mRNA:decreased expression:hypothalamus PMID:19233274|REF_RGD_ID:2303791 11725059 NGF nerve growth factor gene DOID:1596 depressive disorder ISO RGD:1598328 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus PMID:19129380|REF_RGD_ID:2303796 11725059 NGF nerve growth factor gene DOID:1679 cystitis ISO RGD:10978 D RGD:9068941 20200609 RGD PMID:11350415|REF_RGD_ID:7242808 11725059 NGF nerve growth factor gene DOID:1679 cystitis ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16889433 11725059 NGF nerve growth factor gene DOID:1679 cystitis ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:19996110|REF_RGD_ID:7242802 11725059 NGF nerve growth factor gene DOID:1679 cystitis treatment ISO RGD:10978 D RGD:9068941 20200609 RGD PMID:20127836|REF_RGD_ID:7242782 11725059 NGF nerve growth factor gene DOID:1686 glaucoma ISO RGD:1598328 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:18938194|REF_RGD_ID:2303806 11725059 NGF nerve growth factor gene DOID:1790 malignant mesothelioma ISO RGD:1352304 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 11725059 NGF nerve growth factor gene DOID:1824 status epilepticus ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8635431|PMID:8821376 11725059 NGF nerve growth factor gene DOID:1936 atherosclerosis ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:decreased expression:coronary artery PMID:11689207|REF_RGD_ID:5508382 11725059 NGF nerve growth factor gene DOID:2841 asthma ISO RGD:10978 D RGD:9068941 20200609 RGD protein:increased expression:lung, serum PMID:17497413|REF_RGD_ID:4891068 11725059 NGF nerve growth factor gene DOID:2841 asthma ISO RGD:1352304 D RGD:9068941 20200609 RGD PMID:11737043|REF_RGD_ID:4891123 11725059 NGF nerve growth factor gene DOID:2841 asthma ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:increased expression:blood, eosinophil PMID:12752594|REF_RGD_ID:4891122 11725059 NGF nerve growth factor gene DOID:2841 asthma severity ISO RGD:1352304 D RGD:9068941 20200609 RGD PMID:17164945|REF_RGD_ID:4891108 11725059 NGF nerve growth factor gene DOID:2921 glomerulonephritis ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24244623 11725059 NGF nerve growth factor gene DOID:2921 glomerulonephritis ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19169037|REF_RGD_ID:7242783 11725059 NGF nerve growth factor gene DOID:2986 IgA glomerulonephritis ISO RGD:1352304 D RGD:9068941 20200609 RGD DNA:SNP: :rs11102930 (human) PMID:21178826|REF_RGD_ID:7242801 11725059 NGF nerve growth factor gene DOID:3082 interstitial lung disease ISO RGD:1352304 D RGD:9068941 20200609 RGD associated with Sjogren's Syndrome;protein:increased expression:serum: PMID:24691584|REF_RGD_ID:8657022 11725059 NGF nerve growth factor gene DOID:3310 atopic dermatitis ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:17073871|REF_RGD_ID:8657069 11725059 NGF nerve growth factor gene DOID:3393 coronary artery disease ISO RGD:1352304 D RGD:9068941 20200609 RGD PMID:11935372|REF_RGD_ID:1580935 11725059 NGF nerve growth factor gene DOID:3525 middle cerebral artery infarction ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10408807 11725059 NGF nerve growth factor gene DOID:365 bladder disease ISO RGD:10978 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:15448108|REF_RGD_ID:7242800 11725059 NGF nerve growth factor gene DOID:3770 pulmonary fibrosis ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:12917229|REF_RGD_ID:4891121 11725059 NGF nerve growth factor gene DOID:418 systemic scleroderma ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21085492|REF_RGD_ID:5144060 11725059 NGF nerve growth factor gene DOID:431 myofascial pain syndrome ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:17667845|REF_RGD_ID:5144120 11725059 NGF nerve growth factor gene DOID:4483 rhinitis ISO RGD:1352304 D RGD:9068941 20200609 RGD associated with Sinusitis;protein:increased expression:respiratory system mucosa PMID:19958603|REF_RGD_ID:4891064 11725059 NGF nerve growth factor gene DOID:4483 rhinitis ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:10224365|REF_RGD_ID:4891115 11725059 NGF nerve growth factor gene DOID:574 peripheral nervous system disease ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15319252 11725059 NGF nerve growth factor gene DOID:630 genetic disease ISO RGD:1352304 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11725059 NGF nerve growth factor gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023256 11725059 NGF nerve growth factor gene DOID:783 end stage renal disease ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24244623 11725059 NGF nerve growth factor gene DOID:783 end stage renal disease treatment ISO RGD:1352304 D RGD:9068941 20200609 RGD PMID:19169037|REF_RGD_ID:7242783 11725059 NGF nerve growth factor gene DOID:784 chronic kidney disease ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24244623 11725059 NGF nerve growth factor gene DOID:8463 corneal ulcer ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24244623 11725059 NGF nerve growth factor gene DOID:8549 chronic ulcer of skin ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24244623 11725059 NGF nerve growth factor gene DOID:863 nervous system disease ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15093677 11725059 NGF nerve growth factor gene DOID:8947 diabetic retinopathy ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18282491|REF_RGD_ID:7242804 11725059 NGF nerve growth factor gene DOID:90 degenerative disc disease ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:20973063|REF_RGD_ID:5144150 11725059 NGF nerve growth factor gene DOID:9000039 Spinal Cord Injuries ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:12499054|PMID:16915089|REF_RGD_ID:5144069|REF_RGD_ID:5144073 11725059 NGF nerve growth factor gene DOID:9000310 Lung Injury ISO RGD:10978 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:20075049|REF_RGD_ID:5144062 11725059 NGF nerve growth factor gene DOID:9000310 Lung Injury ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20075049 11725059 NGF nerve growth factor gene DOID:9000641 Pain ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:19103210|REF_RGD_ID:2303798 11725059 NGF nerve growth factor gene DOID:9000641 Pain treatment ISO RGD:1352304 D RGD:9068941 20200609 RGD associated with Cystitis, Interstitial PMID:17905097|REF_RGD_ID:7242806 11725059 NGF nerve growth factor gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22871964 11725059 NGF nerve growth factor gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:1598328 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:sciatic nerve: PMID:11425916|REF_RGD_ID:8657088 11725059 NGF nerve growth factor gene DOID:9001579 Neurogenic Inflammation ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21570423 11725059 NGF nerve growth factor gene DOID:9002211 Hyperalgesia ISO RGD:10978 D RGD:9068941 20200609 RGD associated with Cystitis PMID:16203088|REF_RGD_ID:7242799 11725059 NGF nerve growth factor gene DOID:9002211 Hyperalgesia ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20457222 11725059 NGF nerve growth factor gene DOID:9002211 Hyperalgesia ISO RGD:1598328 D RGD:9068941 20200609 RGD associated with Cystitis PMID:18448607|REF_RGD_ID:7242803 11725059 NGF nerve growth factor gene DOID:9002211 Hyperalgesia ISO RGD:1598328 D RGD:9068941 20200609 RGD associated with Peripheral Nerve Injuries; PMID:11425916|REF_RGD_ID:8657088 11725059 NGF nerve growth factor gene DOID:9002211 Hyperalgesia treatment ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:22839415|REF_RGD_ID:7242849 11725059 NGF nerve growth factor gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22666365 11725059 NGF nerve growth factor gene DOID:9002362 Hyperkinesis ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1661212 11725059 NGF nerve growth factor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1598328 D RGD:9068941 20200609 RGD protein, mRNA:increased expression:thalamus and cortex, CNS PMID:8866783|REF_RGD_ID:5508386 11725059 NGF nerve growth factor gene DOID:9002955 Nerve Degeneration ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22666365 11725059 NGF nerve growth factor gene DOID:9004610 Acute Lung Injury ISO RGD:10978 D RGD:9068941 20200609 RGD PMID:17673270|REF_RGD_ID:5144065 11725059 NGF nerve growth factor gene DOID:9005372 Inflammation ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10653021 11725059 NGF nerve growth factor gene DOID:9005372 Inflammation ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:19200610|REF_RGD_ID:2303794 11725059 NGF nerve growth factor gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17715210 11725059 NGF nerve growth factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1598328 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:sciatic nerve PMID:19149268|REF_RGD_ID:2303795 11725059 NGF nerve growth factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1598328 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:21136036|REF_RGD_ID:5144144 11725059 NGF nerve growth factor gene DOID:9006190 Chronic Pancreatitis ISO RGD:1598328 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:16098667|REF_RGD_ID:5144071 11725059 NGF nerve growth factor gene DOID:9006646 Metabolic Syndrome ISO RGD:1352304 D RGD:9068941 20200609 RGD PMID:11935372|REF_RGD_ID:1580935 11725059 NGF nerve growth factor gene DOID:9007096 Stroke ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:19061539|REF_RGD_ID:2303801 11725059 NGF nerve growth factor gene DOID:9007730 Burns ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:12133564|REF_RGD_ID:5144074 11725059 NGF nerve growth factor gene DOID:9008482 Congenital Pain Insensitivity ISO RGD:1352304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INSENSITIVITY TO PAIN, CONGENITAL PMID:28492532 11725059 NGF nerve growth factor gene DOID:9008717 Rib Fractures ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:9798454|REF_RGD_ID:5144111 11725059 NGF nerve growth factor gene DOID:9279 hyperhomocysteinemia ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:21044172|REF_RGD_ID:5144149 11725059 NGF nerve growth factor gene DOID:9470 bacterial meningitis ISO RGD:1598328 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus: PMID:22683802|REF_RGD_ID:8655554 11725059 NGF nerve growth factor gene DOID:9743 diabetic neuropathy ISO RGD:1598328 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:sciatic nerve PMID:12469361|REF_RGD_ID:5508379 11725059 NGF nerve growth factor gene DOID:9976 heroin dependence ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17715210 11725078 ZNF566 zinc finger protein 566 gene DOID:630 genetic disease ISO RGD:1349368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725142 KISS1R KISS1 receptor gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:731975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 11725142 KISS1R KISS1 receptor gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:731975 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 11725142 KISS1R KISS1 receptor gene DOID:0090074 hypogonadotropic hypogonadism 8 with or without anosmia ISO RGD:731975 D RGD:7240710 20180130 OMIM 11725142 KISS1R KISS1 receptor gene DOID:0090074 hypogonadotropic hypogonadism 8 with or without anosmia ISO RGD:731975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 without anosmia PMID:12788881|PMID:12944565|PMID:14573733|PMID:17164310|PMID:18772143|PMID:20371656|PMID:23349759|PMID:23643382|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31073722 11725142 KISS1R KISS1 receptor gene DOID:0112310 central precocious puberty 1 ISO RGD:731975 D RGD:7240710 20180130 OMIM 11725142 KISS1R KISS1 receptor gene DOID:0112310 central precocious puberty 1 ISO RGD:731975 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Precocious puberty, central, 1 PMID:17164310|PMID:18272894|PMID:23349759|PMID:25741868|PMID:26467025|PMID:28492532 11725142 KISS1R KISS1 receptor gene DOID:11383 cryptorchidism ISO RGD:731975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral cryptorchidism PMID:15598687|PMID:28492532|PMID:29452377 11725142 KISS1R KISS1 receptor gene DOID:1612 breast cancer severity ISO RGD:731975 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:high levels of both KISS1 and KISS1R in ERalpha+ tumors treated with tamoxifen associated with shorter relapse-free survival PMID:17914099|REF_RGD_ID:2292123 11725142 KISS1R KISS1 receptor gene DOID:1921 Klinefelter syndrome ISO RGD:731975 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 11725142 KISS1R KISS1 receptor gene DOID:1924 hypogonadism ISO RGD:731975 D RGD:9068941 20200609 RGD Hypogonadotropic hypogonadism, OMIM:146110 DNA:deletion:exon:155-bp deletion of the intron4/exon5 splice acceptor site and part of exon 5 PMID:12944565|REF_RGD_ID:1599279 11725142 KISS1R KISS1 receptor gene DOID:2671 transitional cell carcinoma severity ISO RGD:731975 D RGD:9068941 20200609 RGD urinary bladder TCC; mRNA:increased expression:tumor:versus normal bladder, with significantly higher expression in high-grade vs low-grade tumors (p=0.03) PMID:17164231|REF_RGD_ID:2292127 11725142 KISS1R KISS1 receptor gene DOID:3113 papillary carcinoma ISO RGD:731975 D RGD:9068941 20200609 RGD PMID:11994395|REF_RGD_ID:1599280 11725142 KISS1R KISS1 receptor gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:731975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 11725142 KISS1R KISS1 receptor gene DOID:5339 cyclic hematopoiesis ISO RGD:731975 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11725142 KISS1R KISS1 receptor gene DOID:630 genetic disease ISO RGD:731975 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11725142 KISS1R KISS1 receptor gene DOID:9000217 Stomach Neoplasms ISO RGD:731975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11725142 KISS1R KISS1 receptor gene DOID:9001239 Delayed Puberty ISO RGD:731975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21527035 11725142 KISS1R KISS1 receptor gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:731975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 11725142 KISS1R KISS1 receptor gene DOID:9007284 Precocious Puberty ISO RGD:731975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11725150 THAP5 THAP domain containing 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11725150 THAP5 THAP domain containing 5 gene DOID:630 genetic disease ISO RGD:1353274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725169 PHLDB2 pleckstrin homology like domain family B member 2 gene DOID:0060224 atrial fibrillation ISO RGD:1350676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 11725169 PHLDB2 pleckstrin homology like domain family B member 2 gene DOID:630 genetic disease ISO RGD:1350676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725209 YTHDF1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11725209 YTHDF1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1318986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11725209 YTHDF1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1318986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11725209 YTHDF1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1318986 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11725209 YTHDF1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11725209 YTHDF1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1318986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 11725209 YTHDF1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:630 genetic disease ISO RGD:1318986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725209 YTHDF1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:9256 colorectal cancer ameliorates ISO RGD:1318986 D RGD:9068941 20220908 RGD human cells in mouse model PMID:34974791|REF_RGD_ID:153344629 11725209 YTHDF1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:9538 multiple myeloma ISO RGD:1318986 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038059 11725225 NEU4 neuraminidase 4 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1318506 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11725225 NEU4 neuraminidase 4 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1318506 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11725225 NEU4 neuraminidase 4 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1318506 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11725225 NEU4 neuraminidase 4 gene DOID:1059 intellectual disability ISO RGD:1318506 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability 11725225 NEU4 neuraminidase 4 gene DOID:630 genetic disease ISO RGD:1318506 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725225 NEU4 neuraminidase 4 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1318506 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11725255 LIN54 lin-54 DREAM MuvB core complex component gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1606970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 11725255 LIN54 lin-54 DREAM MuvB core complex component gene DOID:630 genetic disease ISO RGD:1606970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725279 GAA alpha glucosidase gene DOID:0050700 cardiomyopathy ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25466677|PMID:25741868|PMID:27183828|PMID:28492532|PMID:29149851|PMID:31076647 11725279 GAA alpha glucosidase gene DOID:0060698 hyperekplexia 3 ISO RGD:1353184 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperekplexia 3 PMID:17723315|PMID:19588081|PMID:22658377|PMID:25681614|PMID:25741868|PMID:28492532|PMID:31086307|PMID:7981676|PMID:9535769 11725279 GAA alpha glucosidase gene DOID:0080000 muscular disease ISO RGD:1353184 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:11071489|PMID:14695532|PMID:15986226|PMID:16433701|PMID:16531044|PMID:16702877|PMID:16917947|PMID:17210890|PMID:17616415|PMID:17643989|PMID:17723315|PMID:17881425|PMID:18607768|PMID:19588081|PMID:20301438|PMID:20350966|PMID:20559845|PMID:21109266|PMID:21228398|PMID:21439876|PMID:21550241|PMID:21967859|PMID:22595200|PMID:22613277|PMID:22676651|PMID:22975760|PMID:23417379|PMID:24008051|PMID:24033266|PMID:24150945|PMID:24158270|PMID:24245577|PMID:24590251|PMID:24844452|PMID:2510307|PMID:25103075|PMID:25356970|PMID:25741868|PMID:25846667|PMID:26231297|PMID:26800218|PMID:27170567|PMID:27189384|PMID:27460347|PMID:27649523|PMID:27708273|PMID:28032299|PMID:28492532|PMID:28694071|PMID:28951071|PMID:29181627|PMID:29326002|PMID:30275481|PMID:30314719|PMID:30564623|PMID:30655185|PMID:30827497|PMID:31086307|PMID:31676142|PMID:31980526|PMID:32071926|PMID:32528171|PMID:32721234|PMID:32860008|PMID:34906502|PMID:7668832|PMID:7717400|PMID:7881425|PMID:8558570|PMID:8990003 11725279 GAA alpha glucosidase gene DOID:0080600 COVID-19 ISO RGD:1353184 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11725279 GAA alpha glucosidase gene DOID:0081329 glycogen storage disease I ISO RGD:1353184 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency 11725279 GAA alpha glucosidase gene DOID:0110623 primary ciliary dyskinesia 15 ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 15 PMID:24033266|PMID:25741868|PMID:28492532 11725279 GAA alpha glucosidase gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1353184 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:25741868 11725279 GAA alpha glucosidase gene DOID:10976 membranous glomerulonephritis ISO RGD:1353184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15466083 11725279 GAA alpha glucosidase gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:22644586|PMID:25741868|PMID:28492532 11725279 GAA alpha glucosidase gene DOID:12930 dilated cardiomyopathy ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 11725279 GAA alpha glucosidase gene DOID:2747 glycogen storage disease ISO RGD:1353184 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glycogen storage disease PMID:17092519|PMID:18458862|PMID:19790257|PMID:19862843|PMID:20202878|PMID:21232767|PMID:21471980|PMID:21757382|PMID:23430493|PMID:23884227|PMID:24033266|PMID:24444888|PMID:25093132|PMID:25213570|PMID:25526786|PMID:25741868|PMID:27099502|PMID:27363342|PMID:28433475|PMID:28492532|PMID:29124014|PMID:29451150|PMID:30275481|PMID:30943998|PMID:31589614|PMID:31931849|PMID:31953985|PMID:31980526|PMID:32126021|PMID:33673364|PMID:34020684|PMID:7981676|PMID:9535769 11725279 GAA alpha glucosidase gene DOID:2749 glycogen storage disease Ia ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatorenal glycogenosis 11725279 GAA alpha glucosidase gene DOID:2750 glycogen storage disease IV ISO RGD:1353184 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type IV PMID:11071489|PMID:14695532|PMID:15986226|PMID:16433701|PMID:16531044|PMID:16702877|PMID:16917947|PMID:17210890|PMID:17616415|PMID:17643989|PMID:17723315|PMID:17881425|PMID:18607768|PMID:19588081|PMID:20301438|PMID:20350966|PMID:20559845|PMID:21109266|PMID:21228398|PMID:21439876|PMID:21550241|PMID:21967859|PMID:22595200|PMID:22613277|PMID:22676651|PMID:22975760|PMID:23417379|PMID:24008051|PMID:24033266|PMID:24150945|PMID:24158270|PMID:24245577|PMID:24590251|PMID:24844452|PMID:2510307|PMID:25103075|PMID:25356970|PMID:25741868|PMID:25846667|PMID:26231297|PMID:26800218|PMID:27170567|PMID:27189384|PMID:27460347|PMID:27649523|PMID:27708273|PMID:28032299|PMID:28492532|PMID:28694071|PMID:28951071|PMID:29181627|PMID:29326002|PMID:30275481|PMID:30314719|PMID:30564623|PMID:30655185|PMID:30827497|PMID:31086307|PMID:31676142|PMID:31980526|PMID:32071926|PMID:32528171|PMID:32721234|PMID:32860008|PMID:34906502|PMID:7668832|PMID:7717400|PMID:7881425|PMID:8558570|PMID:8990003 11725279 GAA alpha glucosidase gene DOID:2750 glycogen storage disease IV treatment ISO RGD:1550659 D RGD:9068941 20200609 RGD PMID:27747161|REF_RGD_ID:25671409 11725279 GAA alpha glucosidase gene DOID:2752 glycogen storage disease II ISO RGD:1353184 D RGD:7240710 20180130 OMIM 11725279 GAA alpha glucosidase gene DOID:2752 glycogen storage disease II ISO RGD:1353184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type II, infantile | ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:10189220|PMID:10206684|PMID:10338092|PMID:10377006|PMID:10528311|PMID:10737124|PMID:11053688|PMID:11071489|PMID:1109266|PMID:11343339|PMID:11738358|PMID:11854846|PMID:11854868|PMID:11927738|PMID:11949932|PMID:12213618|PMID:12601120|PMID:12897283|PMID:12923862|PMID:14643388|PMID:14695532|PMID:14972326|PMID:15048888|PMID:15121988|PMID:15145338|PMID:15366815|PMID:15501829|PMID:15668445|PMID:15986226|PMID:16199547|PMID:16433701|PMID:16478160|PMID:1652892|PMID:16531044|PMID:16580018|PMID:16702877|PMID:16782080|PMID:16838077|PMID:16857770|PMID:16860134|PMID:16917947|PMID:17027861|PMID:17041744|PMID:17056254|PMID:17092519|PMID:17095274|PMID:17151339|PMID:17210890|PMID:17213836|PMID:17573812|PMID:17576681|PMID:17616415|PMID:17643989|PMID:17723315|PMID:17805474|PMID:17881425|PMID:17915575|PMID:18211760|PMID:18285536|PMID:18301443|PMID:18414213|PMID:18425781|PMID:18429042|PMID:18434155|PMID:18458862|PMID:18495398|PMID:18505979|PMID:18535739|PMID:1856189|PMID:18607768|PMID:1862843|PMID:18757064|PMID:1895140|PMID:1898413|PMID:18995995|PMID:19067231|PMID:19206169|PMID:19343043|PMID:19472353|PMID:19588081|PMID:19609281|PMID:19775921|PMID:19790257|PMID:19862843|PMID:19948615|PMID:19966354|PMID:20033296|PMID:20080426|PMID:20202878|PMID:20301438|PMID:20308911|PMID:20350966|PMID:20437613|PMID:20464284|PMID:20472203|PMID:20559845|PMID:20638881|PMID:20817528|PMID:20826098|PMID:20830524|PMID:21039225|PMID:21109266|PMID:2111708|PMID:21179066|PMID:21216089|PMID:21228398|PMID:21232767|PMID:21439876|PMID:21471980|PMID:21484825|PMID:21488246|PMID:21488291|PMID:21488292|PMID:21550241|PMID:21605996|PMID:21637107|PMID:21644219|PMID:21676566|PMID:21687968|PMID:21704464|PMID:21757382|PMID:21803581|PMID:21889385|PMID:21920843|PMID:21926084|PMID:21940687|PMID:21967859|PMID:21972175|PMID:21982629|PMID:21984055|PMID:22002441|PMID:22027144|PMID:2203258|PMID:22081099|PMID:22133539|PMID:22185990|PMID:22194990|PMID:22196155|PMID:22237443|PMID:22252923|PMID:22253258|PMID:22365055|PMID:22521436|PMID:2252923|PMID:22538254|PMID:22555271|PMID:22595200|PMID:22613277|PMID:22644586|PMID:22658377|PMID:22676651|PMID:22704482|PMID:22711147|PMID:22791670|PMID:22958975|PMID:22975760|PMID:22980766|PMID:22990675|PMID:23000108|PMID:23013746|PMID:23062590|PMID:23146291|PMID:23147228|PMID:23160972|PMID:23266370|PMID:23350563|PMID:23402890|PMID:23417379|PMID:23418865|PMID:23430493|PMID:23430500|PMID:23430560|PMID:23430847|PMID:23430912|PMID:23430949|PMID:23463700|PMID:23566438|PMID:23601496|PMID:23632029|PMID:23632174|PMID:23668440|PMID:23757202|PMID:23787031|PMID:23825616|PMID:23843830|PMID:23884227|PMID:24008051|PMID:24008937|PMID:24011652|PMID:24016645|PMID:24027232|PMID:24033266|PMID:24107549|PMID:24150945|PMID:24158270|PMID:24169249|PMID:24190153|PMID:24215330|PMID:24245577|PMID:24269976|PMID:24273659|PMID:24337590|PMID:24338761|PMID:24383498|PMID:24384324|PMID:24395639|PMID:24399866|PMID:24444888|PMID:24495340|PMID:24513544|PMID:24590251|PMID:24627108|PMID:24715333|PMID:24844452|PMID:24872213|PMID:24923245|PMID:24976573|PMID:25026126|PMID:25036864|PMID:25037089|PMID:25052852|PMID:25093132|PMID:2510307|PMID:25103075|PMID:25139343|PMID:25155446|PMID:25213570|PMID:25243733|PMID:25326635|PMID:25356970|PMID:25388776|PMID:25396301|PMID:25409744|PMID:25444528|PMID:25451853|PMID:25455803|PMID:25466677|PMID:25488666|PMID:25525159|PMID:25526786|PMID:25544546|PMID:25612604|PMID:25614309|PMID:25626711|PMID:25673129|PMID:25681614|PMID:25687148|PMID:25687635|PMID:25703594|PMID:25712382|PMID:25741864|PMID:25741868|PMID:25752415|PMID:25758767|PMID:25783438|PMID:25786784|PMID:25846667|PMID:25973016|PMID:25998610|PMID:26031770|PMID:26160551|PMID:26167453|PMID:26199952|PMID:26231297|PMID:26253708|PMID:26310554|PMID:26349193|PMID:26467025|PMID:26497565|PMID:26572913|PMID:26575883|PMID:26594346|PMID:26693141|PMID:26800218|PMID:26830551|PMID:26873529|PMID:26913919|PMID:26946079|PMID:27008195|PMID:27099502|PMID:27142047|PMID:27170567|PMID:27183828|PMID:27189384|PMID:27193587|PMID:27238910 11725279 GAA alpha glucosidase gene DOID:2752 glycogen storage disease II ISO RGD:1353184 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type II, infantile | ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:27344650|PMID:27363342|PMID:27417441|PMID:27460347|PMID:27623443|PMID:27649523|PMID:27666774|PMID:27692865|PMID:27708273|PMID:27711114|PMID:27896092|PMID:27927596|PMID:28032299|PMID:28182897|PMID:28196920|PMID:28394184|PMID:28433475|PMID:28450385|PMID:28490439|PMID:28492532|PMID:28554557|PMID:28592009|PMID:28600779|PMID:28624228|PMID:28648663|PMID:28657663|PMID:28694071|PMID:28763149|PMID:28814660|PMID:28838325|PMID:28900456|PMID:28951071|PMID:28957316|PMID:29044175|PMID:29046207|PMID:29061980|PMID:29122469|PMID:29124014|PMID:29143201|PMID:29149851|PMID:29181627|PMID:29205646|PMID:29289479|PMID:29315315|PMID:29325298|PMID:29326002|PMID:29390460|PMID:29422078|PMID:29428273|PMID:29451150|PMID:29523196|PMID:29556838|PMID:29573408|PMID:29637184|PMID:29653542|PMID:29869463|PMID:29880332|PMID:29889338|PMID:29946513|PMID:30022036|PMID:30023291|PMID:30049495|PMID:30076350|PMID:30093193|PMID:30105547|PMID:30155607|PMID:30214072|PMID:30275481|PMID:30281819|PMID:30293248|PMID:30314719|PMID:30360039|PMID:30371346|PMID:30414707|PMID:30442156|PMID:3049072|PMID:30510819|PMID:30564623|PMID:30655185|PMID:30711607|PMID:30737479|PMID:30778879|PMID:30827497|PMID:30897595|PMID:30943998|PMID:31076647|PMID:31086307|PMID:31130284|PMID:31193175|PMID:31228295|PMID:31254424|PMID:31301153|PMID:31342611|PMID:31392188|PMID:31395954|PMID:31439017|PMID:31467850|PMID:31510962|PMID:31589614|PMID:31606152|PMID:31619483|PMID:31637888|PMID:31676142|PMID:31710733|PMID:31729605|PMID:31743840|PMID:31847883|PMID:31875618|PMID:31899940|PMID:31904026|PMID:31915562|PMID:31931849|PMID:31953985|PMID:31965297|PMID:31980526|PMID:32012848|PMID:32014045|PMID:32064362|PMID:32071926|PMID:32125626|PMID:32126021|PMID:32248831|PMID:32317649|PMID:32504392|PMID:32518148|PMID:32528171|PMID:32711049|PMID:32721234|PMID:32802993|PMID:32821428|PMID:32860008|PMID:32888769|PMID:33013846|PMID:33073003|PMID:33073007|PMID:33073027|PMID:33202836|PMID:33250842|PMID:33301762|PMID:33393119|PMID:33552729|PMID:33560568|PMID:33673364|PMID:33717985|PMID:33741225|PMID:33972680|PMID:33996274|PMID:34020684|PMID:34220802|PMID:34426522|PMID:34539730|PMID:34602496|PMID:34639227|PMID:34647686|PMID:34852371|PMID:34864681|PMID:34906502|PMID:34995642|PMID:36310651|PMID:5614309|PMID:7603530|PMID:7668832|PMID:7695647|PMID:7717400|PMID:7866409|PMID:7881422|PMID:7881425|PMID:7945303|PMID:7981676|PMID:8094613|PMID:8401535|PMID:8429042|PMID:8435067|PMID:8558570|PMID:8604985|PMID:8834250|PMID:8912788|PMID:8935410|PMID:8990003|PMID:9196050|PMID:9259196|PMID:9266392|PMID:9425285|PMID:9521422|PMID:9529346|PMID:9535769|PMID:9536098|PMID:9554747|PMID:9660056|PMID:9950376 11725279 GAA alpha glucosidase gene DOID:2843 long QT syndrome ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 11725279 GAA alpha glucosidase gene DOID:423 myopathy ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:11071489|PMID:14695532|PMID:15986226|PMID:16433701|PMID:16531044|PMID:16702877|PMID:16917947|PMID:17210890|PMID:17616415|PMID:17643989|PMID:17723315|PMID:17881425|PMID:18607768|PMID:19588081|PMID:20301438|PMID:20350966|PMID:20559845|PMID:21109266|PMID:21228398|PMID:21439876|PMID:21550241|PMID:21967859|PMID:22595200|PMID:22613277|PMID:22676651|PMID:22975760|PMID:23417379|PMID:24008051|PMID:24033266|PMID:24150945|PMID:24158270|PMID:24245577|PMID:24590251|PMID:24844452|PMID:2510307|PMID:25103075|PMID:25356970|PMID:25741868|PMID:25846667|PMID:26231297|PMID:26800218|PMID:27170567|PMID:27189384|PMID:27460347|PMID:27649523|PMID:27708273|PMID:28032299|PMID:28492532|PMID:28694071|PMID:28951071|PMID:29181627|PMID:29326002|PMID:30275481|PMID:30314719|PMID:30564623|PMID:30655185|PMID:30827497|PMID:31086307|PMID:31676142|PMID:31980526|PMID:32071926|PMID:32528171|PMID:32721234|PMID:32860008|PMID:34906502|PMID:7668832|PMID:7717400|PMID:7881425|PMID:8558570|PMID:8990003 11725279 GAA alpha glucosidase gene DOID:630 genetic disease ISO RGD:1353184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11071489|PMID:12213618|PMID:14695532|PMID:15986226|PMID:16433701|PMID:16531044|PMID:16702877|PMID:16917947|PMID:17210890|PMID:17616415|PMID:17643989|PMID:17723315|PMID:17881425|PMID:18425781|PMID:18607768|PMID:19588081|PMID:19862843|PMID:20301438|PMID:20350966|PMID:20559845|PMID:21109266|PMID:21228398|PMID:21439876|PMID:21484825|PMID:21550241|PMID:21967859|PMID:22252923|PMID:22595200|PMID:22613277|PMID:22676651|PMID:22975760|PMID:23417379|PMID:24008051|PMID:24033266|PMID:24150945|PMID:24158270|PMID:24245577|PMID:24590251|PMID:24844452|PMID:2510307|PMID:25103075|PMID:25356970|PMID:25741868|PMID:25846667|PMID:26231297|PMID:26800218|PMID:27170567|PMID:27189384|PMID:27460347|PMID:27649523|PMID:27708273|PMID:28032299|PMID:28196920|PMID:28492532|PMID:28694071|PMID:28951071|PMID:29181627|PMID:29326002|PMID:30275481|PMID:30314719|PMID:30564623|PMID:30655185|PMID:30827497|PMID:31086307|PMID:31676142|PMID:31980526|PMID:32071926|PMID:32528171|PMID:32721234|PMID:32860008|PMID:34906502|PMID:7668832|PMID:7717400|PMID:7881425|PMID:8558570|PMID:8990003 11725279 GAA alpha glucosidase gene DOID:9000184 Ventricular Fibrillation ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:25741868|PMID:28492532|PMID:29149851 11725279 GAA alpha glucosidase gene DOID:9001828 Cardiac Form of Generalized Glycogenosis ISO RGD:1353184 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa | ClinVar Annotator: match by term: GLYCOGENOSIS, GENERALIZED, CARDIAC FORM PMID:11071489|PMID:14643388|PMID:14695532|PMID:15986226|PMID:16433701|PMID:16531044|PMID:16702877|PMID:16838077|PMID:16917947|PMID:17210890|PMID:17616415|PMID:17643989|PMID:17723315|PMID:17881425|PMID:18414213|PMID:18425781|PMID:18458862|PMID:18607768|PMID:19588081|PMID:19862843|PMID:20080426|PMID:20301438|PMID:20350966|PMID:20559845|PMID:21109266|PMID:2111708|PMID:21228398|PMID:21439876|PMID:21471980|PMID:21550241|PMID:21967859|PMID:2203258|PMID:22194990|PMID:22252923|PMID:22595200|PMID:22613277|PMID:22644586|PMID:22676651|PMID:22975760|PMID:22980766|PMID:22990675|PMID:23000108|PMID:23417379|PMID:23668440|PMID:23757202|PMID:24008051|PMID:24008937|PMID:24033266|PMID:24150945|PMID:24158270|PMID:24245577|PMID:24269976|PMID:24444888|PMID:24590251|PMID:24844452|PMID:25052852|PMID:2510307|PMID:25103075|PMID:25213570|PMID:25356970|PMID:25466677|PMID:25526786|PMID:25681614|PMID:25741868|PMID:25846667|PMID:25998610|PMID:26231297|PMID:26467025|PMID:26800218|PMID:26946079|PMID:27170567|PMID:27183828|PMID:27189384|PMID:27363342|PMID:27460347|PMID:27649523|PMID:27708273|PMID:28032299|PMID:28492532|PMID:28624228|PMID:28694071|PMID:28951071|PMID:29124014|PMID:29181627|PMID:29326002|PMID:30275481|PMID:30314719|PMID:30564623|PMID:30655185|PMID:30827497|PMID:31076647|PMID:31086307|PMID:31676142|PMID:31980526|PMID:32071926|PMID:32528171|PMID:32721234|PMID:32860008|PMID:33073003|PMID:33073007|PMID:33202836|PMID:33741225|PMID:34906502|PMID:36310651|PMID:7668832|PMID:7717400|PMID:7881425|PMID:8401535|PMID:8558570|PMID:8912788|PMID:8990003|PMID:9425285|PMID:9521422 11725279 GAA alpha glucosidase gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1353184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11328962 11725279 GAA alpha glucosidase gene DOID:9006475 Glycoprotein Storage Disease ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycoprotein storage disease PMID:19588081|PMID:22644586|PMID:24444888|PMID:25526786|PMID:25741868|PMID:28492532|PMID:30155607|PMID:30564623 11725279 GAA alpha glucosidase gene DOID:9007039 Ventricular Dysfunction ISO RGD:1353184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11328962 11725279 GAA alpha glucosidase gene DOID:9007811 Familial Cirrhosis with Deposition of Abnormal Glycogen ISO RGD:1353184 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cirrhosis, familial, with deposition of abnormal glycogen PMID:11071489|PMID:14695532|PMID:15986226|PMID:16433701|PMID:16531044|PMID:16702877|PMID:16917947|PMID:17210890|PMID:17616415|PMID:17643989|PMID:17723315|PMID:17881425|PMID:18607768|PMID:19588081|PMID:20301438|PMID:20350966|PMID:20559845|PMID:21109266|PMID:21228398|PMID:21439876|PMID:21550241|PMID:21967859|PMID:22595200|PMID:22613277|PMID:22676651|PMID:22975760|PMID:23417379|PMID:24008051|PMID:24033266|PMID:24150945|PMID:24158270|PMID:24245577|PMID:24590251|PMID:24844452|PMID:2510307|PMID:25103075|PMID:25356970|PMID:25741868|PMID:25846667|PMID:26231297|PMID:26800218|PMID:27170567|PMID:27189384|PMID:27460347|PMID:27649523|PMID:27708273|PMID:28032299|PMID:28492532|PMID:28694071|PMID:28951071|PMID:29181627|PMID:29326002|PMID:30275481|PMID:30314719|PMID:30564623|PMID:30655185|PMID:30827497|PMID:31086307|PMID:31676142|PMID:31980526|PMID:32071926|PMID:32528171|PMID:32721234|PMID:32860008|PMID:34906502|PMID:7668832|PMID:7717400|PMID:7881425|PMID:8558570|PMID:8990003 11725279 GAA alpha glucosidase gene DOID:9212 pityriasis rubra pilaris ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 11725279 GAA alpha glucosidase gene DOID:9562 primary ciliary dyskinesia ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18414213|PMID:23757202|PMID:24033266|PMID:25741868|PMID:28492532 11725279 GAA alpha glucosidase gene DOID:9884 muscular dystrophy ISO RGD:1353184 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Muscular dystrophy 11725312 ASB4 ankyrin repeat and SOCS box containing 4 gene DOID:10591 pre-eclampsia ISO RGD:1557659 D RGD:9068941 20220825 MouseDO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 11725312 ASB4 ankyrin repeat and SOCS box containing 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11725312 ASB4 ankyrin repeat and SOCS box containing 4 gene DOID:630 genetic disease ISO RGD:1348810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725321 GPR68 G protein-coupled receptor 68 gene DOID:0080054 achondrogenesis type IA ISO RGD:1319965 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11725321 GPR68 G protein-coupled receptor 68 gene DOID:0080600 COVID-19 ISO RGD:1319965 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11725321 GPR68 G protein-coupled receptor 68 gene DOID:0080960 amelogenesis imperfecta type 2A6 ISO RGD:1319965 D RGD:7240710 20190315 OMIM 11725321 GPR68 G protein-coupled receptor 68 gene DOID:0080960 amelogenesis imperfecta type 2A6 ISO RGD:1319965 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIa6 PMID:25741868|PMID:27693231 11725321 GPR68 G protein-coupled receptor 68 gene DOID:2187 amelogenesis imperfecta ISO RGD:1319965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta PMID:27693231 11725321 GPR68 G protein-coupled receptor 68 gene DOID:630 genetic disease ISO RGD:1319965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725321 GPR68 G protein-coupled receptor 68 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11725333 PTK6 protein tyrosine kinase 6 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1319246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 11725333 PTK6 protein tyrosine kinase 6 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1319246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 11725333 PTK6 protein tyrosine kinase 6 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1319246 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 11725333 PTK6 protein tyrosine kinase 6 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1319246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11725333 PTK6 protein tyrosine kinase 6 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1319246 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 11725333 PTK6 protein tyrosine kinase 6 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1319246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 11725333 PTK6 protein tyrosine kinase 6 gene DOID:10126 keratoconus ISO RGD:1319246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 11725333 PTK6 protein tyrosine kinase 6 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1319246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 11725333 PTK6 protein tyrosine kinase 6 gene DOID:630 genetic disease ISO RGD:1319246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725333 PTK6 protein tyrosine kinase 6 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:1319246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 11725348 MSANTD1 Myb/SANT DNA binding domain containing 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1604952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 11725348 MSANTD1 Myb/SANT DNA binding domain containing 1 gene DOID:1856 cherubism ISO RGD:1604952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11725348 MSANTD1 Myb/SANT DNA binding domain containing 1 gene DOID:630 genetic disease ISO RGD:1604952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725370 INIP INTS3 and NABP interacting protein gene DOID:630 genetic disease ISO RGD:1317489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725384 CYP27C1 cytochrome P450 family 27 subfamily C member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1605811 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11725384 CYP27C1 cytochrome P450 family 27 subfamily C member 1 gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:1605811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:28492532 11725384 CYP27C1 cytochrome P450 family 27 subfamily C member 1 gene DOID:0111220 centronuclear myopathy 2 ISO RGD:1605811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:28492532 11725384 CYP27C1 cytochrome P450 family 27 subfamily C member 1 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1605811 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 11725384 CYP27C1 cytochrome P450 family 27 subfamily C member 1 gene DOID:630 genetic disease ISO RGD:1605811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725396 TRAF4 TNF receptor associated factor 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1315478 D RGD:9068941 20220310 RGD mRNA:increased expression:lung (human) PMID:29254206|REF_RGD_ID:151665107 11725396 TRAF4 TNF receptor associated factor 4 gene DOID:630 genetic disease ISO RGD:1315478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725396 TRAF4 TNF receptor associated factor 4 gene DOID:9000998 Brain Injuries ISO RGD:1315478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 11725411 LRRC58 leucine rich repeat containing 58 gene DOID:630 genetic disease ISO RGD:1606179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725421 CD34 CD34 molecule gene DOID:0050589 inflammatory bowel disease ISO RGD:1315723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 11725421 CD34 CD34 molecule gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1315723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 11725421 CD34 CD34 molecule gene DOID:12849 autistic disorder ISO RGD:1315723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11725421 CD34 CD34 molecule gene DOID:1540 parathyroid carcinoma ISO RGD:1315723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11725421 CD34 CD34 molecule gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:1315723 D RGD:9068941 20220310 RGD PMID:32626543|REF_RGD_ID:151665104 11725421 CD34 CD34 molecule gene DOID:630 genetic disease ISO RGD:1315723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725421 CD34 CD34 molecule gene DOID:684 hepatocellular carcinoma ISO RGD:1315723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11725421 CD34 CD34 molecule gene DOID:8947 diabetic retinopathy ISO RGD:1306863 D RGD:9068941 20210219 RGD mRNA, protein:increased expression:retina PMID:31759996|REF_RGD_ID:41410819 11725421 CD34 CD34 molecule gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1315723 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11725421 CD34 CD34 molecule gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1315723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22011395 11725421 CD34 CD34 molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11725436 LOC100976912 uncharacterized protein C9orf163 gene DOID:0050777 Joubert syndrome ISO RGD:1602292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11725436 LOC100976912 uncharacterized protein C9orf163 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1602292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11725436 LOC100976912 uncharacterized protein C9orf163 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1602292 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11725436 LOC100976912 uncharacterized protein C9orf163 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1602292 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11725436 LOC100976912 uncharacterized protein C9orf163 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1602292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11725436 LOC100976912 uncharacterized protein C9orf163 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1602292 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11725436 LOC100976912 uncharacterized protein C9orf163 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1602292 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11725436 LOC100976912 uncharacterized protein C9orf163 gene DOID:0081097 Rafiq syndrome ISO RGD:1602292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11725436 LOC100976912 uncharacterized protein C9orf163 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1602292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 11725436 LOC100976912 uncharacterized protein C9orf163 gene DOID:1826 epilepsy ISO RGD:1602292 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11725436 LOC100976912 uncharacterized protein C9orf163 gene DOID:3652 Leigh disease ISO RGD:1602292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11725436 LOC100976912 uncharacterized protein C9orf163 gene DOID:630 genetic disease ISO RGD:1602292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725436 LOC100976912 uncharacterized protein C9orf163 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1602292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 11725439 CD68 CD68 molecule gene DOID:0050523 adult T-cell leukemia/lymphoma disease_progression ISO RGD:1314316 D RGD:9068941 20210226 RGD protein:increased expression:lymph node tumor (human) PMID:23557330|REF_RGD_ID:42721976 11725439 CD68 CD68 molecule gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1314316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 11725439 CD68 CD68 molecule gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1314316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11725439 CD68 CD68 molecule gene DOID:0080600 COVID-19 ISO RGD:1314316 D RGD:9068941 20200709 RGD mRNA:decreased expression:dendritic cells (human) PMID:32377375|REF_RGD_ID:32716422 11725439 CD68 CD68 molecule gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1314316 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11725439 CD68 CD68 molecule gene DOID:10533 viral pneumonia ISO RGD:1314317 D RGD:9068941 20210129 RGD mRNA:increased expression:lung,trachea (mouse) PMID:12581500|REF_RGD_ID:40925942 11725439 CD68 CD68 molecule gene DOID:11429 endometriosis of pelvic peritoneum ISO RGD:1314316 D RGD:9068941 20210122 RGD protein:increased expression:peritoneum (human) PMID:19136478|REF_RGD_ID:40925932 11725439 CD68 CD68 molecule gene DOID:12177 common variable immunodeficiency ISO RGD:1314316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11725439 CD68 CD68 molecule gene DOID:13254 diverticulitis of colon severity ISO RGD:1314316 D RGD:9068941 20210129 RGD associated with steroid use;protein:increased expression:sigmoid colon (human) PMID:21553154|REF_RGD_ID:40925945 11725439 CD68 CD68 molecule gene DOID:13619 extrahepatic cholestasis ISO RGD:1314316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 11725439 CD68 CD68 molecule gene DOID:2018 hyperinsulinism ISO RGD:1314316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 11725439 CD68 CD68 molecule gene DOID:2043 hepatitis B ISO RGD:1314316 D RGD:9068941 20210122 RGD associated with inflammation;protein:increased expression:liver (human) PMID:9699943|REF_RGD_ID:40925917 11725439 CD68 CD68 molecule gene DOID:2729 dyskeratosis congenita ISO RGD:1314316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11725439 CD68 CD68 molecule gene DOID:2945 severe acute respiratory syndrome ISO RGD:1314316 D RGD:9068941 20200609 RGD protein:increased expression:macrophage, testis (human) PMID:16237152|REF_RGD_ID:27372876 11725439 CD68 CD68 molecule gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1314316 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 11725439 CD68 CD68 molecule gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1314316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11725439 CD68 CD68 molecule gene DOID:326 ischemia ISO RGD:1314316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19458120 11725439 CD68 CD68 molecule gene DOID:3965 Merkel cell carcinoma ISO RGD:1314316 D RGD:9068941 20210122 RGD protein:increased expression:tumor (human) PMID:22050913|REF_RGD_ID:40925916 11725439 CD68 CD68 molecule gene DOID:526 human immunodeficiency virus infectious disease disease_progression ISO RGD:1314316 D RGD:9068941 20210129 RGD associated with opioid use;protein:increased expression:brain (human) PMID:22797933|REF_RGD_ID:41404655 11725439 CD68 CD68 molecule gene DOID:630 genetic disease ISO RGD:1314316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725439 CD68 CD68 molecule gene DOID:684 hepatocellular carcinoma severity ISO RGD:1314316 D RGD:9068941 20210122 RGD protein:increased expression:liver (human) PMID:28656201|REF_RGD_ID:40924686 11725439 CD68 CD68 molecule gene DOID:783 end stage renal disease ISO RGD:1314316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19539174 11725439 CD68 CD68 molecule gene DOID:8567 Hodgkin's lymphoma severity ISO RGD:1314316 D RGD:9068941 20210129 RGD associated with Epstein-Barr Virus Infections;protein:increased expression:tumor(human) PMID:21071500|REF_RGD_ID:40925944 11725439 CD68 CD68 molecule gene DOID:8567 Hodgkin's lymphoma severity ISO RGD:1314316 D RGD:9068941 20210129 RGD protein:increased expression:tumor (human) PMID:23045593|REF_RGD_ID:40925946 11725439 CD68 CD68 molecule gene DOID:9000099 Experimental Colitis treatment ISO RGD:1314317 D RGD:9068941 20210122 RGD PMID:25004394|REF_RGD_ID:40925931 11725439 CD68 CD68 molecule gene DOID:9000509 Epstein-Barr Virus Infections ISO RGD:1314316 D RGD:9068941 20210122 RGD associated with Hodgkin's Lymphoma;protein:increased expression:tumor (human) PMID:21602260|REF_RGD_ID:40925915 11725439 CD68 CD68 molecule gene DOID:9000509 Epstein-Barr Virus Infections severity ISO RGD:1314316 D RGD:9068941 20210129 RGD associated with Hodgkin's Lymphoma;protein:increased expression:tumor(human) PMID:21071500|REF_RGD_ID:40925944 11725439 CD68 CD68 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11725439 CD68 CD68 molecule gene DOID:9003281 Spontaneous Abortions ISO RGD:1314316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11725439 CD68 CD68 molecule gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1314316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20388520 11725439 CD68 CD68 molecule gene DOID:9007692 Insulin Resistance ISO RGD:1314316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 11725439 CD68 CD68 molecule gene DOID:9008 psoriatic arthritis ISO RGD:1314316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19732956 11725439 CD68 CD68 molecule gene DOID:9009105 HIV Encephalitis ISO RGD:1314316 D RGD:9068941 20210129 RGD protein:increased expression:brain (human) PMID:15488024|REF_RGD_ID:40925943 11725439 CD68 CD68 molecule gene DOID:9970 obesity ISO RGD:1314316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 11725449 U2AF2 U2 small nuclear RNA auxiliary factor 2 gene DOID:630 genetic disease ISO RGD:1321740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725449 U2AF2 U2 small nuclear RNA auxiliary factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321740 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 11725467 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:731628 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11725467 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0050476 Barth syndrome ISO RGD:731628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11725467 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0050800 creatine transporter deficiency ISO RGD:731628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11725467 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0050891 adrenal cortical adenoma ISO RGD:731628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aldosterone-producing adrenal cortex adenoma PMID:23416519 11725467 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0050952 spastic ataxia ISO RGD:731628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 11725467 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11725467 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:731628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 11725467 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:731628 D RGD:7240710 20180130 OMIM 11725467 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:731628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: X-linked progressive cerebellar ataxia PMID:10797423|PMID:22912398|PMID:25326635|PMID:25741868|PMID:26633542|PMID:27435318|PMID:27632770|PMID:27653636|PMID:28492532 11725467 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0111861 Meester-Loeys syndrome ISO RGD:731628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meester-Loeys syndrome PMID:27632686 11725467 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0112003 immunodeficiency 33 ISO RGD:731628 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11725467 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:10588 adrenoleukodystrophy ISO RGD:731628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11725467 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:10763 hypertension ISO RGD:731628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23416519 11725467 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:731628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11725467 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:12849 autistic disorder ISO RGD:731628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11725467 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:13628 favism ISO RGD:731628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11725467 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:27632686 11725467 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:2729 dyskeratosis congenita ISO RGD:731628 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11725467 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:446 primary hyperaldosteronism ISO RGD:731628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23416519 11725467 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:607 paraplegia ISO RGD:731628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11725467 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:630 genetic disease ISO RGD:731628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10797423|PMID:22912398|PMID:25741868|PMID:27632770|PMID:27653636|PMID:28492532 11725467 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:657 adenoma ISO RGD:731628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23416519 11725467 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:9000495 Tremor ISO RGD:621304 D RGD:9068941 20200609 RGD PMID:27013529|REF_RGD_ID:13825260 11725467 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:9002720 Splenomegaly ISO RGD:731628 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11725467 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:9005603 Muscle Hypotonia ISO RGD:731628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:25741868 11725467 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:9008086 Developmental Disabilities ISO RGD:731628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11725506 CHKB choline kinase beta gene DOID:0060041 autism spectrum disorder ISO RGD:1604071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 11725506 CHKB choline kinase beta gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1604071 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 11725506 CHKB choline kinase beta gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1604071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11725506 CHKB choline kinase beta gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1604071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 11725506 CHKB choline kinase beta gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1604071 D RGD:7240710 20180130 OMIM 11725506 CHKB choline kinase beta gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1604071 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:16199547|PMID:17576681|PMID:21665002|PMID:23692895|PMID:23945283|PMID:24997086|PMID:25326635|PMID:25326637|PMID:25740612|PMID:25741868|PMID:26467025|PMID:26782016|PMID:28492532|PMID:33712684|PMID:7767093|PMID:9427222|PMID:9536098 11725506 CHKB choline kinase beta gene DOID:10581 metachromatic leukodystrophy ISO RGD:1604071 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 11725506 CHKB choline kinase beta gene DOID:1059 intellectual disability ISO RGD:1604071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11725506 CHKB choline kinase beta gene DOID:1826 epilepsy ISO RGD:1604071 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11725506 CHKB choline kinase beta gene DOID:630 genetic disease ISO RGD:1604071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11725506 CHKB choline kinase beta gene DOID:8619 recurrent hypersomnia susceptibility ISO RGD:1604071 D RGD:9068941 20200609 RGD DNA:SNP: :rs5770917 (human) PMID:19404393|REF_RGD_ID:6483442 11725506 CHKB choline kinase beta gene DOID:8986 narcolepsy ISO RGD:1604071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18820697 11725506 CHKB choline kinase beta gene DOID:8986 narcolepsy susceptibility ISO RGD:1604071 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:3' utr:c.*257A>G (rs5770917) (human) PMID:18820697|REF_RGD_ID:6483443 11725506 CHKB choline kinase beta gene DOID:9884 muscular dystrophy ISO RGD:1604071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:25741868 11725527 PITPNM2 phosphatidylinositol transfer protein membrane associated 2 gene DOID:630 genetic disease ISO RGD:1322017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725576 NOCT nocturnin gene DOID:630 genetic disease ISO RGD:1349348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725576 NOCT nocturnin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11725584 CERS5 ceramide synthase 5 gene DOID:630 genetic disease ISO RGD:1323138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725617 PTH2R parathyroid hormone 2 receptor gene DOID:0050888 syndromic intellectual disability ISO RGD:730965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 11725617 PTH2R parathyroid hormone 2 receptor gene DOID:14557 primary pulmonary hypertension ISO RGD:730965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11725617 PTH2R parathyroid hormone 2 receptor gene DOID:630 genetic disease ISO RGD:730965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725617 PTH2R parathyroid hormone 2 receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11725637 RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:731853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:20206331|PMID:22824638|PMID:24239381|PMID:25462087|PMID:28492532 11725637 RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 gene DOID:2750 glycogen storage disease IV ISO RGD:731853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type IV 11725637 RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 gene DOID:630 genetic disease ISO RGD:731853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33413275 11725637 RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 gene DOID:9003936 Cardiomegaly ISO RGD:731853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17121852 11725637 RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11725637 RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:731853 D RGD:7240710 20180130 OMIM 11725637 RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:731853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: POLYGLUCOSAN BODY MYOPATHY WITHOUT IMMUNODEFICIENCY | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with immunodeficiency | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 without immunodeficiency PMID:16199547|PMID:17576681|PMID:18691923|PMID:23104095|PMID:2379848|PMID:23798481|PMID:23889995|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29260357|PMID:31127727|PMID:31407473|PMID:32187699|PMID:33413275|PMID:9536098 11725657 ARVCF ARVCF delta catenin family member gene DOID:0060041 autism spectrum disorder ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11725657 ARVCF ARVCF delta catenin family member gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1315392 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 11725657 ARVCF ARVCF delta catenin family member gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1315392 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 11725657 ARVCF ARVCF delta catenin family member gene DOID:0080600 COVID-19 ISO RGD:1315392 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11725657 ARVCF ARVCF delta catenin family member gene DOID:0111996 immunodeficiency 51 ISO RGD:1315392 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11725657 ARVCF ARVCF delta catenin family member gene DOID:1059 intellectual disability ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11725657 ARVCF ARVCF delta catenin family member gene DOID:10907 microcephaly ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11725657 ARVCF ARVCF delta catenin family member gene DOID:11198 DiGeorge syndrome ISO RGD:1315392 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 11725657 ARVCF ARVCF delta catenin family member gene DOID:11372 megacolon ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11725657 ARVCF ARVCF delta catenin family member gene DOID:12583 velocardiofacial syndrome ISO RGD:1315392 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 11725657 ARVCF ARVCF delta catenin family member gene DOID:12849 autistic disorder ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11725657 ARVCF ARVCF delta catenin family member gene DOID:12930 dilated cardiomyopathy ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 11725657 ARVCF ARVCF delta catenin family member gene DOID:1826 epilepsy ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11725657 ARVCF ARVCF delta catenin family member gene DOID:2213 hemorrhagic disease ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 11725657 ARVCF ARVCF delta catenin family member gene DOID:2843 long QT syndrome ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11725657 ARVCF ARVCF delta catenin family member gene DOID:5419 schizophrenia ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11725657 ARVCF ARVCF delta catenin family member gene DOID:612 primary immunodeficiency disease ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11725657 ARVCF ARVCF delta catenin family member gene DOID:630 genetic disease ISO RGD:1315392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725657 ARVCF ARVCF delta catenin family member gene DOID:9003871 Venous Thrombosis ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 11725657 ARVCF ARVCF delta catenin family member gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11725657 ARVCF ARVCF delta catenin family member gene DOID:9007661 Dwarfism ISO RGD:1315392 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11725657 ARVCF ARVCF delta catenin family member gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1315392 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11725686 C12H12orf42 chromosome 12 C12orf42 homolog gene DOID:630 genetic disease ISO RGD:1606876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725705 LCLAT1 lysocardiolipin acyltransferase 1 gene DOID:630 genetic disease ISO RGD:1347425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725726 RAD54L RAD54 like gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1321600 D RGD:7240710 20180130 OMIM 11725726 RAD54L RAD54 like gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1321600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:10362365 11725726 RAD54L RAD54 like gene DOID:0060252 sclerocornea ISO RGD:1321601 D RGD:9068941 20220825 MouseDO OMIM:181700 11725726 RAD54L RAD54 like gene DOID:14566 disease of cellular proliferation ISO RGD:1321600 D RGD:9068941 20200609 RGD PMID:10362365|REF_RGD_ID:1599748 11725726 RAD54L RAD54 like gene DOID:1612 breast cancer ISO RGD:1321600 D RGD:7240710 20180711 OMIM 11725726 RAD54L RAD54 like gene DOID:1793 pancreatic cancer ISO RGD:1321600 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs1048771 (human) PMID:16540687|REF_RGD_ID:2317365 11725726 RAD54L RAD54 like gene DOID:234 colon adenocarcinoma ISO RGD:1321600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma PMID:10362365 11725726 RAD54L RAD54 like gene DOID:3007 breast ductal carcinoma ISO RGD:1321600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma PMID:10362365 11725726 RAD54L RAD54 like gene DOID:5426 primary ovarian insufficiency ISO RGD:1321600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11725726 RAD54L RAD54 like gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11725726 RAD54L RAD54 like gene DOID:630 genetic disease ISO RGD:1321600 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11725726 RAD54L RAD54 like gene DOID:684 hepatocellular carcinoma ISO RGD:1321600 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11725726 RAD54L RAD54 like gene DOID:9008939 Breast Neoplasms ISO RGD:1321600 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11725726 RAD54L RAD54 like gene DOID:9008952 Breast Cancer, Familial ISO RGD:1321600 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 11725752 NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:732792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25741868|PMID:28492532 11725752 NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:732792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 11725752 NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:0112073 nuclear type mitochondrial complex I deficiency 9 ISO RGD:732792 D RGD:7240710 20190315 OMIM 11725752 NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:0112073 nuclear type mitochondrial complex I deficiency 9 ISO RGD:732792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 PMID:15372108|PMID:17576681|PMID:19259137|PMID:25741868|PMID:28429146|PMID:28492532|PMID:30948790|PMID:9536098 11725752 NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:732792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 11725752 NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:1059 intellectual disability ISO RGD:732792 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11725752 NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:1059 intellectual disability ISO RGD:732792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 11725752 NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:2349 arteriosclerosis ISO RGD:3156 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:16620292|REF_RGD_ID:2302364 11725752 NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:4362 cervical cancer disease_progression ISO RGD:732792 D RGD:9068941 20200609 RGD DNA, mRNA:amplification, increased expression:uterine cervix PMID:18559093|REF_RGD_ID:2302384 11725752 NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:630 genetic disease ISO RGD:732792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15372108|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532 11725752 NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:732792 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 11725760 GBX1 gastrulation brain homeobox 1 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1352199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 11725760 GBX1 gastrulation brain homeobox 1 gene DOID:2843 long QT syndrome ISO RGD:1352199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 11725760 GBX1 gastrulation brain homeobox 1 gene DOID:630 genetic disease ISO RGD:1352199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725767 MAK male germ cell associated kinase gene DOID:0110242 cataract 13 with adult i phenotype ISO RGD:733464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 13 with adult I phenotype PMID:28492532 11725767 MAK male germ cell associated kinase gene DOID:0110380 retinitis pigmentosa 62 ISO RGD:733464 D RGD:7240710 20180130 OMIM 11725767 MAK male germ cell associated kinase gene DOID:0110380 retinitis pigmentosa 62 ISO RGD:733464 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 62 PMID:16199547|PMID:21148103|PMID:21825139|PMID:21835304|PMID:24938718|PMID:25385675|PMID:25741868|PMID:28492532|PMID:29781741|PMID:31456290 11725767 MAK male germ cell associated kinase gene DOID:10584 retinitis pigmentosa ISO RGD:733464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:21148103|PMID:21825139|PMID:21835304|PMID:24938718|PMID:25324289|PMID:25385675|PMID:25741868|PMID:28492532|PMID:28559085|PMID:29103961|PMID:29781741|PMID:30718709|PMID:31456290|PMID:33576794 11725767 MAK male germ cell associated kinase gene DOID:630 genetic disease ISO RGD:733464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11725767 MAK male germ cell associated kinase gene DOID:8501 fundus dystrophy ISO RGD:733464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:21148103|PMID:21825139|PMID:24938718|PMID:25741868|PMID:28492532|PMID:28559085|PMID:29103961|PMID:29781741|PMID:32531858 11725790 RBM7 RNA binding motif protein 7 gene DOID:1059 intellectual disability ISO RGD:1317542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11725790 RBM7 RNA binding motif protein 7 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1317542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 11725790 RBM7 RNA binding motif protein 7 gene DOID:630 genetic disease ISO RGD:1317542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725790 RBM7 RNA binding motif protein 7 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1317542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11725804 GHDC GH3 domain containing gene DOID:630 genetic disease ISO RGD:1603379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725820 ENOX1 ecto-NOX disulfide-thiol exchanger 1 gene DOID:10283 prostate cancer ISO RGD:1605985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11725820 ENOX1 ecto-NOX disulfide-thiol exchanger 1 gene DOID:630 genetic disease ISO RGD:1605985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725827 SLC39A4 solute carrier family 39 member 4 gene DOID:0050605 acrodermatitis enteropathica ISO RGD:1315470 D RGD:7240710 20180130 OMIM 11725827 SLC39A4 solute carrier family 39 member 4 gene DOID:0050605 acrodermatitis enteropathica ISO RGD:1315470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica PMID:11035780|PMID:11254458|PMID:12032886|PMID:12068297|PMID:12787121|PMID:12955721|PMID:14709598|PMID:16199547|PMID:19370757|PMID:20981092|PMID:21165302|PMID:21762381|PMID:24033266|PMID:25741868|PMID:26351177|PMID:28492532|PMID:31979155|PMID:33837739 11725827 SLC39A4 solute carrier family 39 member 4 gene DOID:0060496 respiratory allergy ISO RGD:1315470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085522 11725827 SLC39A4 solute carrier family 39 member 4 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1315470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11725827 SLC39A4 solute carrier family 39 member 4 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1315470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11725827 SLC39A4 solute carrier family 39 member 4 gene DOID:2722 acrodermatitis ISO RGD:1315470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16714095|PMID:16819703|PMID:16889938|PMID:17190629|PMID:17202136 11725827 SLC39A4 solute carrier family 39 member 4 gene DOID:4621 holoprosencephaly ISO RGD:1315470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11725827 SLC39A4 solute carrier family 39 member 4 gene DOID:630 genetic disease ISO RGD:1315470 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12032886|PMID:12955721|PMID:16199547|PMID:21762381|PMID:25741868|PMID:28492532 11725827 SLC39A4 solute carrier family 39 member 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1315470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20957146 11725827 SLC39A4 solute carrier family 39 member 4 gene DOID:9007023 Prenatal Injuries ISO RGD:1315470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17483098 11725843 TUBB4A tubulin beta 4A class IVa gene DOID:0060798 hypomyelinating leukodystrophy 6 ISO RGD:1348861 D RGD:7240710 20180130 OMIM 11725843 TUBB4A tubulin beta 4A class IVa gene DOID:0060798 hypomyelinating leukodystrophy 6 ISO RGD:1348861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 6 PMID:16707859|PMID:18466252|PMID:18851904|PMID:23190606|PMID:23424103|PMID:23582646|PMID:23595291|PMID:24088041|PMID:24526230|PMID:24706558|PMID:24742798|PMID:24785942|PMID:24850488|PMID:24974158|PMID:25085639|PMID:25168210|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25497598|PMID:25545912|PMID:25697102|PMID:25741868|PMID:25772097|PMID:26633545|PMID:26643067|PMID:26795593|PMID:27538619|PMID:28275661|PMID:28492532|PMID:28592043|PMID:28791129|PMID:28973395|PMID:29451896|PMID:30079973|PMID:3156966|PMID:31692161|PMID:32581362|PMID:33027950|PMID:3405308|PMID:7983175 11725843 TUBB4A tubulin beta 4A class IVa gene DOID:0080490 mucolipidosis type IV ISO RGD:1348861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11725843 TUBB4A tubulin beta 4A class IVa gene DOID:0090041 torsion dystonia 4 ISO RGD:1348861 D RGD:7240710 20180130 OMIM 11725843 TUBB4A tubulin beta 4A class IVa gene DOID:0090041 torsion dystonia 4 ISO RGD:1348861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Torsion dystonia 4 PMID:16707859|PMID:18466252|PMID:18851904|PMID:23424103|PMID:23582646|PMID:23595291|PMID:24526230|PMID:24706558|PMID:24785942|PMID:24850488|PMID:25085639|PMID:25326635|PMID:25545912|PMID:25741868|PMID:26643067|PMID:28275661|PMID:28492532|PMID:28973395|PMID:30079973|PMID:3156966|PMID:3405308|PMID:7983175 11725843 TUBB4A tubulin beta 4A class IVa gene DOID:10907 microcephaly ISO RGD:1348861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25085639|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28973395|PMID:32581362 11725843 TUBB4A tubulin beta 4A class IVa gene DOID:1969 cerebral palsy ISO RGD:1348861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:18851904|PMID:24526230|PMID:24850488|PMID:25085639|PMID:25326637|PMID:25741868|PMID:28275661|PMID:28492532|PMID:28973395|PMID:32581362 11725843 TUBB4A tubulin beta 4A class IVa gene DOID:3213 demyelinating disease ISO RGD:619730 D RGD:9068941 20210910 RGD DNA:missense mutation:cds:p.Ala302Thr (rat) PMID:28393430|REF_RGD_ID:150429639 11725843 TUBB4A tubulin beta 4A class IVa gene DOID:543 dystonia ISO RGD:1348861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder 11725843 TUBB4A tubulin beta 4A class IVa gene DOID:630 genetic disease ISO RGD:1348861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22791712|PMID:24706558|PMID:24742798|PMID:24850488|PMID:24974158|PMID:25085639|PMID:25168210|PMID:25326637|PMID:25356970|PMID:25741868|PMID:26795593|PMID:28275661|PMID:28393430|PMID:28492532|PMID:28973395|PMID:29451896|PMID:32581362 11725843 TUBB4A tubulin beta 4A class IVa gene DOID:9006534 Nervous System Malformations ISO RGD:1348861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16707859|PMID:18466252|PMID:23582646|PMID:24706558|PMID:24785942|PMID:24850488|PMID:25326635|PMID:25545912|PMID:25741868|PMID:28492532|PMID:28973395|PMID:30079973|PMID:7983175 11725843 TUBB4A tubulin beta 4A class IVa gene DOID:9008086 Developmental Disabilities ISO RGD:1348861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:18851904|PMID:24526230|PMID:24785942|PMID:24850488|PMID:25741868|PMID:28275661|PMID:28492532|PMID:32581362 11725856 RNF10 ring finger protein 10 gene DOID:630 genetic disease ISO RGD:1319543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725877 LOC100993591 tubulin alpha-3 chain gene DOID:630 genetic disease ISO RGD:1605119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725886 LSM3 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:0060417 3p deletion syndrome ISO RGD:1314318 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 11725886 LSM3 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:630 genetic disease ISO RGD:1314318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725894 SPACA5 sperm acrosome associated 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11725894 SPACA5 sperm acrosome associated 5 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1346531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 11725894 SPACA5 sperm acrosome associated 5 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1346531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11725894 SPACA5 sperm acrosome associated 5 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1346531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11725894 SPACA5 sperm acrosome associated 5 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1346531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11725894 SPACA5 sperm acrosome associated 5 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1346531 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 11725894 SPACA5 sperm acrosome associated 5 gene DOID:12849 autistic disorder ISO RGD:1346531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11725894 SPACA5 sperm acrosome associated 5 gene DOID:630 genetic disease ISO RGD:1346531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725911 LOC100996187 zinc finger protein 300 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349700 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11725911 LOC100996187 zinc finger protein 300 gene DOID:630 genetic disease ISO RGD:1349700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725911 LOC100996187 zinc finger protein 300 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349700 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11725951 CD96 CD96 molecule gene DOID:0111581 C syndrome ISO RGD:1343806 D RGD:7240710 20180130 OMIM 11725951 CD96 CD96 molecule gene DOID:0111581 C syndrome ISO RGD:1343806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: C syndrome PMID:17847009|PMID:25741868|PMID:28492532|PMID:34906502 11725951 CD96 CD96 molecule gene DOID:2377 multiple sclerosis ISO RGD:1343806 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 11725951 CD96 CD96 molecule gene DOID:630 genetic disease ISO RGD:1343806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11725973 ZNF514 zinc finger protein 514 gene DOID:630 genetic disease ISO RGD:1347182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725989 C3H3orf62 chromosome 3 C3orf62 homolog gene DOID:0060852 Pierson syndrome ISO RGD:1602042 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 11725989 C3H3orf62 chromosome 3 C3orf62 homolog gene DOID:630 genetic disease ISO RGD:1602042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11725989 C3H3orf62 chromosome 3 C3orf62 homolog gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1602042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11726005 SLC22A3 solute carrier family 22 member 3 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1351828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 11726005 SLC22A3 solute carrier family 22 member 3 gene DOID:303 substance-related disorder ISO RGD:1351828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17010131 11726005 SLC22A3 solute carrier family 22 member 3 gene DOID:630 genetic disease ISO RGD:1351828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726005 SLC22A3 solute carrier family 22 member 3 gene DOID:820 myocarditis ISO RGD:1351828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641380 11726005 SLC22A3 solute carrier family 22 member 3 gene DOID:9000220 Coxsackievirus Infections ISO RGD:1351828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641380 11726005 SLC22A3 solute carrier family 22 member 3 gene DOID:9002265 Kidney Neoplasms ISO RGD:735816 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:23228442|REF_RGD_ID:7243178 11726005 SLC22A3 solute carrier family 22 member 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17173048 11726005 SLC22A3 solute carrier family 22 member 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 11726005 SLC22A3 solute carrier family 22 member 3 gene DOID:9970 obesity ISO RGD:1351828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27401566 11726020 HRC histidine rich calcium binding protein gene DOID:0050451 Brugada syndrome ISO RGD:1343095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 11726020 HRC histidine rich calcium binding protein gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1343095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11726020 HRC histidine rich calcium binding protein gene DOID:0111073 progressive familial heart block ISO RGD:1343095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 11726020 HRC histidine rich calcium binding protein gene DOID:0111074 progressive familial heart block type IA ISO RGD:1343095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 11726020 HRC histidine rich calcium binding protein gene DOID:0111076 progressive familial heart block type IB ISO RGD:1343095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type 1B | ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 11726020 HRC histidine rich calcium binding protein gene DOID:630 genetic disease ISO RGD:1343095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11726020 HRC histidine rich calcium binding protein gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1343095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 11726020 HRC histidine rich calcium binding protein gene DOID:9003139 Cardiac Fibrosis severity ISO RGD:1550883 D RGD:9068941 20200609 RGD associated with Heart Failure PMID:22952658|REF_RGD_ID:9685495 11726020 HRC histidine rich calcium binding protein gene DOID:9003936 Cardiomegaly ISO RGD:1343095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17030629 11726020 HRC histidine rich calcium binding protein gene DOID:9007633 Body Weight ISO RGD:1343095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17030629 11726020 HRC histidine rich calcium binding protein gene DOID:9009094 Progressive Familial Heart Block Type I ISO RGD:1343095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Heart block progressive familial type 1 PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 11726031 LOC100969633 olfactory receptor 2T27 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1350912 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11726031 LOC100969633 olfactory receptor 2T27 gene DOID:1540 parathyroid carcinoma ISO RGD:1350912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11726031 LOC100969633 olfactory receptor 2T27 gene DOID:630 genetic disease ISO RGD:1350912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726031 LOC100969633 olfactory receptor 2T27 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11726039 RARS1 arginyl-tRNA synthetase 1 gene DOID:0060791 hypomyelinating leukodystrophy 9 ISO RGD:1319432 D RGD:7240710 20180130 OMIM 11726039 RARS1 arginyl-tRNA synthetase 1 gene DOID:0060791 hypomyelinating leukodystrophy 9 ISO RGD:1319432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 9 PMID:24777941|PMID:25741868|PMID:27848944|PMID:28492532|PMID:28905880|PMID:30791064|PMID:31737794|PMID:31814314|PMID:33515434 11726039 RARS1 arginyl-tRNA synthetase 1 gene DOID:0111951 immunodeficiency 40 ISO RGD:1319432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:26083206|PMID:28492532 11726039 RARS1 arginyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1319432 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11726058 KLF6 KLF transcription factor 6 gene DOID:0080600 COVID-19 ISO RGD:1349381 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11726058 KLF6 KLF transcription factor 6 gene DOID:10283 prostate cancer ISO RGD:1349381 D RGD:7240710 20180418 OMIM 11726058 KLF6 KLF transcription factor 6 gene DOID:10534 stomach cancer ISO RGD:1349381 D RGD:7240710 20220209 OMIM 11726058 KLF6 KLF transcription factor 6 gene DOID:10534 stomach cancer ISO RGD:1349381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastric cancer 11726058 KLF6 KLF transcription factor 6 gene DOID:5419 schizophrenia ISO RGD:1349381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11726058 KLF6 KLF transcription factor 6 gene DOID:630 genetic disease ISO RGD:1349381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726058 KLF6 KLF transcription factor 6 gene DOID:9000217 Stomach Neoplasms ISO RGD:1349381 D RGD:9068941 20220217 CTD CTD Direct Evidence: marker/mechanism 11726058 KLF6 KLF transcription factor 6 gene DOID:9000466 Prostate Cancer, Somatic ISO RGD:1349381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate cancer, somatic PMID:11752579 11726058 KLF6 KLF transcription factor 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11726058 KLF6 KLF transcription factor 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11726058 KLF6 KLF transcription factor 6 gene DOID:9006024 Hypotension ISO RGD:1349381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotension PMID:28492532 11726073 METTL1 methyltransferase 1, tRNA methylguanosine gene DOID:630 genetic disease ISO RGD:1352209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11726073 METTL1 methyltransferase 1, tRNA methylguanosine gene DOID:6846 familial melanoma ISO RGD:1352209 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 11726087 GRK5 G protein-coupled receptor kinase 5 gene DOID:10652 Alzheimer's disease ISO RGD:62277 D RGD:9068941 20200609 RGD DNA: deletion: exons 7,8: heterozygote PMID:18522748|REF_RGD_ID:5688375 11726087 GRK5 G protein-coupled receptor kinase 5 gene DOID:10763 hypertension ISO RGD:61985 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle, kidney (rat) PMID:26248277|REF_RGD_ID:11535540 11726087 GRK5 G protein-coupled receptor kinase 5 gene DOID:1287 cardiovascular system disease ISO RGD:1348499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26032411 11726087 GRK5 G protein-coupled receptor kinase 5 gene DOID:14330 Parkinson's disease ISO RGD:1348499 D RGD:9068941 20200609 RGD protein: decreased expression: brain PMID:17125886|REF_RGD_ID:5688384 11726087 GRK5 G protein-coupled receptor kinase 5 gene DOID:14330 Parkinson's disease ISO RGD:61985 D RGD:9068941 20200609 RGD protein: decreased expression: brain PMID:17996024|REF_RGD_ID:5685370 11726087 GRK5 G protein-coupled receptor kinase 5 gene DOID:14330 Parkinson's disease no_association ISO RGD:1348499 D RGD:9068941 20211126 RGD DNA: snps: :rs871196, rs2420616, rs7069375, rs4752293 PMID:21184589|REF_RGD_ID:5688382 11726087 GRK5 G protein-coupled receptor kinase 5 gene DOID:2320 obstructive lung disease ISO RGD:62277 D RGD:9068941 20200609 RGD PMID:14565944|REF_RGD_ID:5688385 11726087 GRK5 G protein-coupled receptor kinase 5 gene DOID:409 liver disease ISO RGD:1348499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11726087 GRK5 G protein-coupled receptor kinase 5 gene DOID:6000 congestive heart failure ISO RGD:1348499 D RGD:9068941 20200609 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:26248277|REF_RGD_ID:11535540 11726087 GRK5 G protein-coupled receptor kinase 5 gene DOID:6000 congestive heart failure severity ISO RGD:1348499 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle (human) PMID:22685168|REF_RGD_ID:13506835 11726087 GRK5 G protein-coupled receptor kinase 5 gene DOID:630 genetic disease ISO RGD:1348499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726087 GRK5 G protein-coupled receptor kinase 5 gene DOID:7148 rheumatoid arthritis no_association ISO RGD:1348499 D RGD:9068941 20200609 RGD protein: : mononuclear blood cells PMID:10094932|REF_RGD_ID:5688380 11726087 GRK5 G protein-coupled receptor kinase 5 gene DOID:7148 rheumatoid arthritis no_association ISO RGD:62277 D RGD:9068941 20200609 RGD DNA: deletion::GRK2 and GRK6 deletions resulted in more severe arthritis PMID:18662895|REF_RGD_ID:5688373 11726087 GRK5 G protein-coupled receptor kinase 5 gene DOID:9004484 Sepsis ISO RGD:1348499 D RGD:9068941 20200609 RGD protein: increased expression: neutrophils PMID:16849637|REF_RGD_ID:5688378 11726087 GRK5 G protein-coupled receptor kinase 5 gene DOID:9005372 Inflammation ISO RGD:62277 D RGD:9068941 20200609 RGD DNA: deletions PMID:20945396|REF_RGD_ID:5688355 11726087 GRK5 G protein-coupled receptor kinase 5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1348499 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex (human) PMID:23727505|REF_RGD_ID:13792719 11726087 GRK5 G protein-coupled receptor kinase 5 gene DOID:9006281 Temporomandibular Joint Disorders ISO RGD:1348499 D RGD:9068941 20200609 RGD DNA: SNP: rs12415832 PMID:22074755|REF_RGD_ID:5688353 11726145 DMRTA1 DMRT like family A1 gene DOID:5419 schizophrenia ISO RGD:1320325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11726145 DMRTA1 DMRT like family A1 gene DOID:630 genetic disease ISO RGD:1320325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726151 S1PR5 sphingosine-1-phosphate receptor 5 gene DOID:0080600 COVID-19 ISO RGD:733271 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11726151 S1PR5 sphingosine-1-phosphate receptor 5 gene DOID:418 systemic scleroderma ISO RGD:733271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29033951 11726151 S1PR5 sphingosine-1-phosphate receptor 5 gene DOID:630 genetic disease ISO RGD:733271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726151 S1PR5 sphingosine-1-phosphate receptor 5 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22406263 11726159 MEX3C mex-3 RNA binding family member C gene DOID:0060224 atrial fibrillation ISO RGD:1319133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11726159 MEX3C mex-3 RNA binding family member C gene DOID:1059 intellectual disability ISO RGD:1319133 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11726159 MEX3C mex-3 RNA binding family member C gene DOID:630 genetic disease ISO RGD:1319133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726159 MEX3C mex-3 RNA binding family member C gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1319133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11726164 RGS19 regulator of G protein signaling 19 gene DOID:630 genetic disease ISO RGD:1353904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726185 PCMTD2 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 gene DOID:630 genetic disease ISO RGD:1313858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726202 APBB2 amyloid beta precursor protein binding family B member 2 gene DOID:10652 Alzheimer's disease onset ISO RGD:1342475 D RGD:9068941 20200609 RGD DNA:SNPs: :rs13133980,rs17443013(human) PMID:15714520|REF_RGD_ID:9684954 11726202 APBB2 amyloid beta precursor protein binding family B member 2 gene DOID:1561 cognitive disorder severity ISO RGD:1342475 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: : rs13133980,rs17443013 (human) PMID:23384821|REF_RGD_ID:9684953 11726202 APBB2 amyloid beta precursor protein binding family B member 2 gene DOID:630 genetic disease ISO RGD:1342475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726202 APBB2 amyloid beta precursor protein binding family B member 2 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1342475 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 11726202 APBB2 amyloid beta precursor protein binding family B member 2 gene DOID:9004657 Weight Gain ISO RGD:1342475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11726225 GDF2 growth differentiation factor 2 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1353215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26801773 11726225 GDF2 growth differentiation factor 2 gene DOID:5419 schizophrenia ISO RGD:1353215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11726225 GDF2 growth differentiation factor 2 gene DOID:6432 pulmonary hypertension ISO RGD:1353215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26801773 11726225 GDF2 growth differentiation factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1353215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23936038|PMID:28284560 11726225 GDF2 growth differentiation factor 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1353215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25741868|PMID:26801773|PMID:28492532 11726225 GDF2 growth differentiation factor 2 gene DOID:9001906 Hereditary Hemorrhagic Telangiectasia, Type 5 ISO RGD:1353215 D RGD:7240710 20180130 OMIM 11726225 GDF2 growth differentiation factor 2 gene DOID:9001906 Hereditary Hemorrhagic Telangiectasia, Type 5 ISO RGD:1353215 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 5 PMID:23972370|PMID:25741868|PMID:26801773|PMID:27081547|PMID:28492532|PMID:29650961|PMID:30578397|PMID:31661308|PMID:31727138|PMID:32573726|PMID:32992168|PMID:34611981 11726225 GDF2 growth differentiation factor 2 gene DOID:9002589 Bone Fractures ISO RGD:1353215 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27394662 11726270 CEP68 centrosomal protein 68 gene DOID:0060224 atrial fibrillation ISO RGD:1319252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11726270 CEP68 centrosomal protein 68 gene DOID:630 genetic disease ISO RGD:1319252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726286 SLC10A1 solute carrier family 10 member 1 gene DOID:12351 alcoholic hepatitis treatment ISO RGD:3681 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 11726286 SLC10A1 solute carrier family 10 member 1 gene DOID:13580 cholestasis treatment ISO RGD:3681 D RGD:9068941 20200609 RGD PMID:29655695|REF_RGD_ID:15090803 11726286 SLC10A1 solute carrier family 10 member 1 gene DOID:13580 cholestasis treatment ISO RGD:3681 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:27090119|REF_RGD_ID:15090804 11726286 SLC10A1 solute carrier family 10 member 1 gene DOID:2043 hepatitis B ISO RGD:737174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatitis B virus, resistance to PMID:14660639|PMID:25418280|PMID:27882152|PMID:28835676|PMID:29658451 11726286 SLC10A1 solute carrier family 10 member 1 gene DOID:630 genetic disease ISO RGD:737174 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11726286 SLC10A1 solute carrier family 10 member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 11726286 SLC10A1 solute carrier family 10 member 1 gene DOID:9003473 Familial Hypercholanemia 2 ISO RGD:737174 D RGD:7240710 20210414 OMIM 11726286 SLC10A1 solute carrier family 10 member 1 gene DOID:9003473 Familial Hypercholanemia 2 ISO RGD:737174 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypercholanemia, familial, 2 PMID:14660639|PMID:24867799|PMID:25418280|PMID:25741868|PMID:27882152|PMID:28835676|PMID:29658451 11726286 SLC10A1 solute carrier family 10 member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:3681 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:28827769|REF_RGD_ID:15045609 11726286 SLC10A1 solute carrier family 10 member 1 gene DOID:9970 obesity disease_progression ISO RGD:3681 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:25612518|REF_RGD_ID:15045599 11726296 ZNF131 zinc finger protein 131 gene DOID:630 genetic disease ISO RGD:1353025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726296 ZNF131 zinc finger protein 131 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11726325 INSIG1 insulin induced gene 1 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1347615 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:23370340|PMID:24095820|PMID:28492532|PMID:29992659|PMID:31334757 11726325 INSIG1 insulin induced gene 1 gene DOID:12849 autistic disorder ISO RGD:1347615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11726325 INSIG1 insulin induced gene 1 gene DOID:305 carcinoma ISO RGD:1347615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11726325 INSIG1 insulin induced gene 1 gene DOID:630 genetic disease ISO RGD:1347615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726325 INSIG1 insulin induced gene 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1347615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11726325 INSIG1 insulin induced gene 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1347615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11726325 INSIG1 insulin induced gene 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1332305 D RGD:9068941 20200609 RGD PMID:16327801|REF_RGD_ID:2308858 11726325 INSIG1 insulin induced gene 1 gene DOID:9006599 Hypertriglyceridemia severity ISO RGD:1332305 D RGD:9068941 20200609 RGD associated with Obesity PMID:15096598|REF_RGD_ID:2308857 11726325 INSIG1 insulin induced gene 1 gene DOID:9452 fatty liver disease ISO RGD:708457 D RGD:9068941 20200609 RGD associated with Obesity;mRNA:increased expression:liver PMID:15096598|REF_RGD_ID:2308857 11726325 INSIG1 insulin induced gene 1 gene DOID:9452 fatty liver disease severity ISO RGD:1332305 D RGD:9068941 20200609 RGD associated with Obesity PMID:15096598|REF_RGD_ID:2308857 11726337 LPAR2 lysophosphatidic acid receptor 2 gene DOID:630 genetic disease ISO RGD:1312931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:732524 D RGD:9068941 20200609 RGD protein:increased expression:tonsil, T cell PMID:18490405|REF_RGD_ID:4888517 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:0060500 drug allergy ISO RGD:732524 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16630147 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:732524 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481|PMID:17641958|PMID:20485159 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:10283 prostate cancer ISO RGD:732524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:1205 allergic disease severity ISO RGD:732524 D RGD:9068941 20200609 RGD DNA:SNP: :927T>C (human) PMID:16776674|REF_RGD_ID:4782072 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:12849 autistic disorder ISO RGD:732524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:219 colon cancer ISO RGD:732525 D RGD:9068941 20210108 RGD associated with Experimental Colitis PMID:28410235|REF_RGD_ID:40903055 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:2841 asthma ISO RGD:732524 D RGD:9068941 20200609 RGD PMID:11591188|PMID:8087328|REF_RGD_ID:4848936|REF_RGD_ID:4888514 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:2841 asthma ISO RGD:732524 D RGD:9068941 20200609 RGD DNA:SNP: :927T>C (human) PMID:17153879|REF_RGD_ID:4781742 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:2841 asthma ISO RGD:732524 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-634C>T, -475A>C, -336A>G (human) PMID:16630147|REF_RGD_ID:4784257 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:2841 asthma ISO RGD:732525 D RGD:9068941 20200609 RGD PMID:16387808|PMID:17689528|REF_RGD_ID:4781449|REF_RGD_ID:4843543 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:2841 asthma no_association ISO RGD:732524 D RGD:9068941 20200609 RGD DNA:SNP: :927T>C (human) PMID:16776674|REF_RGD_ID:4782072 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:2841 asthma no_association ISO RGD:732524 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon:multiple (human) PMID:16771777|REF_RGD_ID:4889116 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:2841 asthma severity ISO RGD:732524 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:respiratory system mucosa PMID:16123393|REF_RGD_ID:4847129 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:2942 bronchiolitis ISO RGD:732525 D RGD:9068941 20200609 RGD associated with Pneumovirus Infections PMID:16337014|REF_RGD_ID:4843953 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:3770 pulmonary fibrosis ISO RGD:619796 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:20959046|REF_RGD_ID:4781441 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:3770 pulmonary fibrosis ISO RGD:732525 D RGD:9068941 20200609 RGD associated with Pneumonia PMID:14970333|REF_RGD_ID:4847792 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:4483 rhinitis ISO RGD:732524 D RGD:9068941 20200609 RGD PMID:18946234|REF_RGD_ID:4888516 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:4483 rhinitis ISO RGD:732524 D RGD:9068941 20200609 RGD associated with Sinusitis;mRNA:increased expression:nasal cavity epithelium PMID:16689996|REF_RGD_ID:4783198 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:4483 rhinitis ISO RGD:732525 D RGD:9068941 20200609 RGD PMID:15379985|PMID:17627772|REF_RGD_ID:4781451|REF_RGD_ID:4847512 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:630 genetic disease ISO RGD:732524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:6432 pulmonary hypertension ISO RGD:619796 D RGD:9068941 20200609 RGD associated with Anoxia PMID:12910720|REF_RGD_ID:4848274 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:850 lung disease ISO RGD:732525 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:11325876|REF_RGD_ID:4888512 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:9000076 Closed Fractures ISO RGD:732524 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19544365 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:9000113 Pneumococcal Meningitis disease_progression ISO RGD:619796 D RGD:9068941 20210219 RGD mRNA, protein:increased expression:brain (rat) PMID:31933824|REF_RGD_ID:40903068 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:9000590 Dyspnea ISO RGD:619796 D RGD:9068941 20200609 RGD PMID:2825489|REF_RGD_ID:4888515 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:732525 D RGD:9068941 20200609 RGD associated with Respiratory Syncytial Virus Infections PMID:16238585|REF_RGD_ID:4846883 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:9001472 Nasal Polyps ISO RGD:732524 D RGD:9068941 20200609 RGD associated with Asthma PMID:11591188|REF_RGD_ID:4848936 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:9001472 Nasal Polyps ISO RGD:732524 D RGD:9068941 20200609 RGD associated with Rhinitis;mRNA:increased expression:nasal cavity epithelium PMID:16689996|REF_RGD_ID:4783198 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:9001472 Nasal Polyps ISO RGD:732524 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity epithelium PMID:16739673|REF_RGD_ID:4889117 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:9002906 Multiple Organ Failure ISO RGD:619796 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:17499745|REF_RGD_ID:4781453 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:619796 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:18790177|REF_RGD_ID:4781446 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:732525 D RGD:9068941 20210108 RGD associated with Endotoxemia PMID:27703200|REF_RGD_ID:40903067 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:9005372 Inflammation ISO RGD:732524 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:12487226|REF_RGD_ID:4848616 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:9008114 Helicobacter Infections treatment ISO RGD:732524 D RGD:9068941 20210108 RGD PMID:18571838|REF_RGD_ID:40903061 11726350 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:9415 allergic asthma treatment ISO RGD:732525 D RGD:9068941 20210108 RGD PMID:23933317|REF_RGD_ID:40903070 11726363 MED6 mediator complex subunit 6 gene DOID:630 genetic disease ISO RGD:1321116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726378 TMEM82 transmembrane protein 82 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603825 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11726378 TMEM82 transmembrane protein 82 gene DOID:630 genetic disease ISO RGD:1603825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726394 FMO1 flavin containing dimethylaniline monoxygenase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736452 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11726394 FMO1 flavin containing dimethylaniline monoxygenase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:736452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17127561 11726394 FMO1 flavin containing dimethylaniline monoxygenase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:736452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11726394 FMO1 flavin containing dimethylaniline monoxygenase 1 gene DOID:630 genetic disease ISO RGD:736452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726394 FMO1 flavin containing dimethylaniline monoxygenase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 11726394 FMO1 flavin containing dimethylaniline monoxygenase 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:736452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 11726394 FMO1 flavin containing dimethylaniline monoxygenase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11726411 TOP1 DNA topoisomerase I gene DOID:0060041 autism spectrum disorder ISO RGD:733198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11726411 TOP1 DNA topoisomerase I gene DOID:14566 disease of cellular proliferation ISO RGD:733198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11598410 11726411 TOP1 DNA topoisomerase I gene DOID:2234 focal epilepsy ISO RGD:733198 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11726411 TOP1 DNA topoisomerase I gene DOID:630 genetic disease ISO RGD:733198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726411 TOP1 DNA topoisomerase I gene DOID:9000918 Disease Progression ISO RGD:733198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30132517 11726411 TOP1 DNA topoisomerase I gene DOID:9002801 Recurrence ISO RGD:733198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30132517 11726411 TOP1 DNA topoisomerase I gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:733198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19931604 11726411 TOP1 DNA topoisomerase I gene DOID:9007188 Liver Neoplasms ISO RGD:733198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30132517 11726436 NCBP3 nuclear cap binding subunit 3 gene DOID:3613 Canavan disease ISO RGD:1604808 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:12638939|PMID:19932039|PMID:28492532 11726436 NCBP3 nuclear cap binding subunit 3 gene DOID:630 genetic disease ISO RGD:1604808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726463 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:0060249 scoliosis ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 11726463 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:0080006 bone development disease ISO RGD:1601866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20018682 11726463 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome ISO RGD:1601866 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome PMID:17351359|PMID:20018682|PMID:23320496|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24194475|PMID:24424126|PMID:25741868|PMID:28492532|PMID:29682451|PMID:30755392|PMID:31102500|PMID:32214227 11726463 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:0081124 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 ISO RGD:1601866 D RGD:7240710 20220810 OMIM 11726463 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: sensorineural hearing loss disorder PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 11726463 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:1059 intellectual disability ISO RGD:1601866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20018682 11726463 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:1067 open-angle glaucoma ISO RGD:1601866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21532571 11726463 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:11383 cryptorchidism ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: undescended testicle PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 11726463 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:12849 autistic disorder ISO RGD:1601866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic disorder of childhood onset PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 11726463 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:13088 periventricular leukomalacia ISO RGD:1601866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Periventricular leukomalacia PMID:25741868 11726463 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:14766 renal agenesis ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Renal agenesis PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 11726463 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1601866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11726463 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:540 strabismus ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Strabismus PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 11726463 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:630 genetic disease ISO RGD:1601866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726463 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 11726463 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:674 cleft palate ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 11726463 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1601866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:25741868 11726463 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:9004934 BILATERAL CLEFT LIP ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bilateral cleft lip PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 11726463 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:9005004 Musculoskeletal Abnormalities ISO RGD:1601866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20018682 11726463 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 11726463 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1601866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20018682 11726463 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:9009007 Tooth Abnormalities ISO RGD:1601866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20018682 11726463 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11726479 LOC100995577 HLA class II histocompatibility antigen, DP alpha 1 chain gene DOID:0050553 JMP syndrome ISO RGD:1605730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11726479 LOC100995577 HLA class II histocompatibility antigen, DP alpha 1 chain gene DOID:11678 onchocerciasis ISO RGD:1605730 D RGD:9068941 20200609 RGD PMID:8854084|REF_RGD_ID:6480649 11726479 LOC100995577 HLA class II histocompatibility antigen, DP alpha 1 chain gene DOID:2043 hepatitis B disease_progression ISO RGD:1605730 D RGD:9068941 20200609 RGD DNA:SNP: :rs3077(human) PMID:27051043|REF_RGD_ID:14694816 11726479 LOC100995577 HLA class II histocompatibility antigen, DP alpha 1 chain gene DOID:2772 irritant dermatitis ISO RGD:1605730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27258892 11726479 LOC100995577 HLA class II histocompatibility antigen, DP alpha 1 chain gene DOID:2841 asthma susceptibility ISO RGD:1605730 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:21814517|REF_RGD_ID:13506911 11726479 LOC100995577 HLA class II histocompatibility antigen, DP alpha 1 chain gene DOID:5082 liver cirrhosis severity ISO RGD:1605730 D RGD:9068941 20200609 RGD DAN:polymorphism: : PMID:10203020|REF_RGD_ID:14694972 11726479 LOC100995577 HLA class II histocompatibility antigen, DP alpha 1 chain gene DOID:684 hepatocellular carcinoma ISO RGD:1605730 D RGD:9068941 20200609 RGD DNA:hypomethylation: CpG islands: PMID:20165882|REF_RGD_ID:14694974 11726479 LOC100995577 HLA class II histocompatibility antigen, DP alpha 1 chain gene DOID:8778 Crohn's disease ISO RGD:1605730 D RGD:9068941 20200609 RGD PMID:12073072|REF_RGD_ID:6480648 11726479 LOC100995577 HLA class II histocompatibility antigen, DP alpha 1 chain gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1605730 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :rs3077, rs9277534(human) PMID:24897020|REF_RGD_ID:14694819 11726479 LOC100995577 HLA class II histocompatibility antigen, DP alpha 1 chain gene DOID:9008163 Chronic Hepatitis B ISO RGD:1605730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19349983 11726479 LOC100995577 HLA class II histocompatibility antigen, DP alpha 1 chain gene DOID:9008163 Chronic Hepatitis B ISO RGD:1605730 D RGD:9068941 20200609 RGD mRNA:decreased expression:peripheral blood mononuclear cell: PMID:30267609|REF_RGD_ID:14694817 11726479 LOC100995577 HLA class II histocompatibility antigen, DP alpha 1 chain gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:1605730 D RGD:9068941 20200609 RGD DNA:polymorphism::HLA-DPA1*04:01(human) PMID:28275747|REF_RGD_ID:14694818 11726479 LOC100995577 HLA class II histocompatibility antigen, DP alpha 1 chain gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1605730 D RGD:9068941 20200609 RGD DNA:SNP: :rs3077(human) PMID:30267609|REF_RGD_ID:14694817 11726479 LOC100995577 HLA class II histocompatibility antigen, DP alpha 1 chain gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1605730 D RGD:9068941 20200609 RGD DNA:SNP: :rs3077(human) PMID:29300980|REF_RGD_ID:14694973 11726479 LOC100995577 HLA class II histocompatibility antigen, DP alpha 1 chain gene DOID:9415 allergic asthma susceptibility ISO RGD:1605730 D RGD:9068941 20200609 RGD DNA:polymorphism: PMID:28380482|REF_RGD_ID:13506910 11726479 LOC100995577 HLA class II histocompatibility antigen, DP alpha 1 chain gene DOID:9744 type 1 diabetes mellitus ISO RGD:1605730 D RGD:9068941 20200609 RGD PMID:7576003|REF_RGD_ID:6480651 11726494 PRKCQ protein kinase C theta gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1350580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 11726494 PRKCQ protein kinase C theta gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1350580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11726494 PRKCQ protein kinase C theta gene DOID:0110892 inflammatory bowel disease 1 ISO RGD:1350580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 11726494 PRKCQ protein kinase C theta gene DOID:2018 hyperinsulinism ISO RGD:620968 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:decreased expression:soleus PMID:8826977|REF_RGD_ID:1625605 11726494 PRKCQ protein kinase C theta gene DOID:2526 prostate adenocarcinoma ISO RGD:620968 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate PMID:8180127|REF_RGD_ID:1625625 11726494 PRKCQ protein kinase C theta gene DOID:5327 retinal detachment ISO RGD:1350580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26978024 11726494 PRKCQ protein kinase C theta gene DOID:5327 retinal detachment ISO RGD:1551360 D RGD:9068941 20220825 MouseDO 11726494 PRKCQ protein kinase C theta gene DOID:630 genetic disease ISO RGD:1350580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726494 PRKCQ protein kinase C theta gene DOID:7148 rheumatoid arthritis ISO RGD:1350580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18794853|PMID:20453842|PMID:23143596 11726494 PRKCQ protein kinase C theta gene DOID:8778 Crohn's disease ISO RGD:1350580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 11726494 PRKCQ protein kinase C theta gene DOID:9004484 Sepsis ISO RGD:620968 D RGD:9068941 20200609 RGD protein:decreased expression:lymphocyte PMID:11735277|REF_RGD_ID:1625613 11726494 PRKCQ protein kinase C theta gene DOID:9007692 Insulin Resistance ISO RGD:620968 D RGD:9068941 20200609 RGD associated with Obesity;protein:decreased expression:skeletal muscle PMID:10923637|REF_RGD_ID:1625603 11726494 PRKCQ protein kinase C theta gene DOID:9007692 Insulin Resistance ISO RGD:620968 D RGD:9068941 20200609 RGD protein:altered localization:skeletal muscle PMID:9000691|REF_RGD_ID:1625604 11726494 PRKCQ protein kinase C theta gene DOID:9008972 Hyperammonemia ISO RGD:620968 D RGD:9068941 20200609 RGD protein:altered localization:neuron PMID:15606904|REF_RGD_ID:1625610 11726494 PRKCQ protein kinase C theta gene DOID:9744 type 1 diabetes mellitus ISO RGD:1350580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18978792 11726518 CHMP4A charged multivesicular body protein 4A gene DOID:0060439 lysinuric protein intolerance ISO RGD:1342527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11726518 CHMP4A charged multivesicular body protein 4A gene DOID:630 genetic disease ISO RGD:1342527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726518 CHMP4A charged multivesicular body protein 4A gene DOID:9000265 Specific Granule Deficiency ISO RGD:1342527 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11726518 CHMP4A charged multivesicular body protein 4A gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1342527 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11726564 ADIPOR1 adiponectin receptor 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1344545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11726564 ADIPOR1 adiponectin receptor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1344545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11726564 ADIPOR1 adiponectin receptor 1 gene DOID:1612 breast cancer ISO RGD:1344545 D RGD:9068941 20200609 RGD DNA:SNPs: :rs7539542 (human) PMID:18451143|REF_RGD_ID:8694415 11726564 ADIPOR1 adiponectin receptor 1 gene DOID:1612 breast cancer no_association ISO RGD:1344545 D RGD:9068941 20200609 RGD PMID:19723917|REF_RGD_ID:8694417 11726564 ADIPOR1 adiponectin receptor 1 gene DOID:2018 hyperinsulinism ISO RGD:1303151 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle cell PMID:16326833|REF_RGD_ID:1625765 11726564 ADIPOR1 adiponectin receptor 1 gene DOID:2526 prostate adenocarcinoma susceptibility ISO RGD:1344545 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:intron, exon: (rs12733285, rs7539452) (human) PMID:21397927|REF_RGD_ID:8694410 11726564 ADIPOR1 adiponectin receptor 1 gene DOID:4195 hyperglycemia ISO RGD:1303151 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle cell PMID:16326833|REF_RGD_ID:1625765 11726564 ADIPOR1 adiponectin receptor 1 gene DOID:4448 macular degeneration ISO RGD:1344545 D RGD:9068941 20200609 RGD DNA:SNP:intron:c.-95+191A>G (rs10753929) (human) PMID:22387454|REF_RGD_ID:8694465 11726564 ADIPOR1 adiponectin receptor 1 gene DOID:5844 myocardial infarction ISO RGD:1332010 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart left ventricle PMID:16415076|REF_RGD_ID:1625764 11726564 ADIPOR1 adiponectin receptor 1 gene DOID:630 genetic disease ISO RGD:1344545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726564 ADIPOR1 adiponectin receptor 1 gene DOID:783 end stage renal disease ISO RGD:1303151 D RGD:9068941 20200609 RGD PMID:24028144|REF_RGD_ID:8695941 11726564 ADIPOR1 adiponectin receptor 1 gene DOID:783 end stage renal disease ISO RGD:1344545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19539174 11726564 ADIPOR1 adiponectin receptor 1 gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:1303151 D RGD:9068941 20200609 RGD PMID:23533720|REF_RGD_ID:8695947 11726564 ADIPOR1 adiponectin receptor 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1344545 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11726564 ADIPOR1 adiponectin receptor 1 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:1303151 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type2;mRNA, protein:decreased expression:heart, serum PMID:24669271|REF_RGD_ID:8695938 11726564 ADIPOR1 adiponectin receptor 1 gene DOID:9007456 Female Infertility ISO RGD:1344545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22265003 11726564 ADIPOR1 adiponectin receptor 1 gene DOID:9007692 Insulin Resistance resistance ISO RGD:1344545 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :-3881T>C PMID:17285539|REF_RGD_ID:1625762 11726564 ADIPOR1 adiponectin receptor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11726564 ADIPOR1 adiponectin receptor 1 gene DOID:9970 obesity ISO RGD:1303151 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:16483885|REF_RGD_ID:1625763 11726564 ADIPOR1 adiponectin receptor 1 gene DOID:9970 obesity ISO RGD:1344545 D RGD:9068941 20200609 RGD mRNA:decreased expression:lymphocyte PMID:17391161|REF_RGD_ID:1625761 11726579 DIP2B disco interacting protein 2 homolog B gene DOID:0060041 autism spectrum disorder ISO RGD:1605978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11726579 DIP2B disco interacting protein 2 homolog B gene DOID:0070309 absence epilepsy ISO RGD:1605978 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Absence seizures PMID:25741868 11726579 DIP2B disco interacting protein 2 homolog B gene DOID:630 genetic disease ISO RGD:1605978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726579 DIP2B disco interacting protein 2 homolog B gene DOID:9005790 Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type ISO RGD:1605978 D RGD:7240710 20180130 OMIM 11726579 DIP2B disco interacting protein 2 homolog B gene DOID:9005790 Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type ISO RGD:1605978 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability, FRA12A type PMID:17236128|PMID:25741868 11726579 DIP2B disco interacting protein 2 homolog B gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1605978 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 11726631 SYCP1 synaptonemal complex protein 1 gene DOID:0080690 RASopathy ISO RGD:1347800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11726631 SYCP1 synaptonemal complex protein 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1347800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 11726631 SYCP1 synaptonemal complex protein 1 gene DOID:10941 intracranial aneurysm ISO RGD:1347800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial PMID:25741868|PMID:28492532 11726631 SYCP1 synaptonemal complex protein 1 gene DOID:1793 pancreatic cancer ISO RGD:1347800 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14991579 11726631 SYCP1 synaptonemal complex protein 1 gene DOID:299 adenocarcinoma ISO RGD:1347800 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14991579 11726631 SYCP1 synaptonemal complex protein 1 gene DOID:630 genetic disease ISO RGD:1347800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726672 LCN1 lipocalin 1 gene DOID:0050777 Joubert syndrome ISO RGD:1344178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11726672 LCN1 lipocalin 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1344178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 11726672 LCN1 lipocalin 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1344178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11726672 LCN1 lipocalin 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1344178 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11726672 LCN1 lipocalin 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1344178 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11726672 LCN1 lipocalin 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1344178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11726672 LCN1 lipocalin 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1344178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 11726672 LCN1 lipocalin 1 gene DOID:3652 Leigh disease ISO RGD:1344178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11726672 LCN1 lipocalin 1 gene DOID:630 genetic disease ISO RGD:1344178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726672 LCN1 lipocalin 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1344178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 11726693 SF3B6 splicing factor 3b subunit 6 gene DOID:630 genetic disease ISO RGD:1602118 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726712 MAEL maelstrom spermatogenic transposon silencer gene DOID:1540 parathyroid carcinoma ISO RGD:1605917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11726712 MAEL maelstrom spermatogenic transposon silencer gene DOID:630 genetic disease ISO RGD:1605917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726712 MAEL maelstrom spermatogenic transposon silencer gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11726733 C3H3orf52 chromosome 3 C3orf52 homolog gene DOID:630 genetic disease ISO RGD:1606226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726733 C3H3orf52 chromosome 3 C3orf52 homolog gene DOID:9001132 Hypotrichosis 15 ISO RGD:1606226 D RGD:7240710 20230104 OMIM 11726733 C3H3orf52 chromosome 3 C3orf52 homolog gene DOID:9001132 Hypotrichosis 15 ISO RGD:1606226 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypotrichosis 15 PMID:32336749|PMID:34309526 11726743 LIF LIF interleukin 6 family cytokine gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:736774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 11726743 LIF LIF interleukin 6 family cytokine gene DOID:11612 polycystic ovary syndrome ISO RGD:736774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11726743 LIF LIF interleukin 6 family cytokine gene DOID:219 colon cancer ameliorates ISO RGD:736774 D RGD:9068941 20220217 RGD human cells in mouse model PMID:29899555|REF_RGD_ID:151356919 11726743 LIF LIF interleukin 6 family cytokine gene DOID:2316 brain ischemia ISO RGD:620865 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:20221422|REF_RGD_ID:2326053 11726743 LIF LIF interleukin 6 family cytokine gene DOID:6000 congestive heart failure ISO RGD:620865 D RGD:9068941 20200609 RGD PMID:20051627|REF_RGD_ID:2326058 11726743 LIF LIF interleukin 6 family cytokine gene DOID:630 genetic disease ISO RGD:736774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726743 LIF LIF interleukin 6 family cytokine gene DOID:9001981 Weight Loss ISO RGD:736774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23291613 11726743 LIF LIF interleukin 6 family cytokine gene DOID:9002739 Female Urogenital Diseases ISO RGD:736774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 11726743 LIF LIF interleukin 6 family cytokine gene DOID:9003281 Spontaneous Abortions ISO RGD:736774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11726743 LIF LIF interleukin 6 family cytokine gene DOID:9003936 Cardiomegaly ISO RGD:736774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15226216 11726743 LIF LIF interleukin 6 family cytokine gene DOID:9004994 Embryo Loss ISO RGD:736774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23409146 11726743 LIF LIF interleukin 6 family cytokine gene DOID:9007096 Stroke ISO RGD:620865 D RGD:9068941 20200609 RGD PMID:18042242|REF_RGD_ID:2326063 11726743 LIF LIF interleukin 6 family cytokine gene DOID:9007096 Stroke ISO RGD:736774 D RGD:9068941 20200609 RGD PMID:18042242|REF_RGD_ID:2326063 11726743 LIF LIF interleukin 6 family cytokine gene DOID:9007456 Female Infertility ISO RGD:736774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23407384 11726743 LIF LIF interleukin 6 family cytokine gene DOID:9256 colorectal cancer disease_progression ISO RGD:736774 D RGD:9068941 20220217 RGD protein:increased expression:colon (human) PMID:29899555|REF_RGD_ID:151356919 11726751 NPAS2 neuronal PAS domain protein 2 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1320157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25956372 11726751 NPAS2 neuronal PAS domain protein 2 gene DOID:12849 autistic disorder ISO RGD:1320157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17264841 11726751 NPAS2 neuronal PAS domain protein 2 gene DOID:630 genetic disease ISO RGD:1320157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726751 NPAS2 neuronal PAS domain protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11726751 NPAS2 neuronal PAS domain protein 2 gene DOID:9004980 Chronobiology Disorders ISO RGD:1320157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31284022 11726784 ABCA12 ATP binding cassette subfamily A member 12 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1312110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Congenital ichthyosis of skin | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:15756637|PMID:17508018|PMID:19262603|PMID:20849526|PMID:25741868|PMID:28492532 11726784 ABCA12 ATP binding cassette subfamily A member 12 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1312110 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Congenital ichthyosis of skin | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:15756637|PMID:17508018|PMID:17576681|PMID:17684380|PMID:19262603|PMID:20672373|PMID:20849526|PMID:22992804|PMID:25741868|PMID:26740202|PMID:28492532|PMID:28851938|PMID:31168818|PMID:31586585|PMID:32707200|PMID:9536098 11726784 ABCA12 ATP binding cassette subfamily A member 12 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 ISO RGD:1312110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16675967 11726784 ABCA12 ATP binding cassette subfamily A member 12 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 susceptibility ISO RGD:1312110 D RGD:9068941 20200609 RGD PMID:12915478|REF_RGD_ID:1598548 11726784 ABCA12 ATP binding cassette subfamily A member 12 gene DOID:0060712 autosomal recessive congenital ichthyosis 4A ISO RGD:1312110 D RGD:7240710 20180130 OMIM 11726784 ABCA12 ATP binding cassette subfamily A member 12 gene DOID:0060712 autosomal recessive congenital ichthyosis 4A ISO RGD:1312110 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4A PMID:10094194|PMID:12915478|PMID:15756637|PMID:19262603|PMID:19664001|PMID:20672373|PMID:22257947|PMID:22992804|PMID:23528209|PMID:25741868|PMID:28295493|PMID:28492532|PMID:29722424|PMID:29880184|PMID:29887490|PMID:30600594|PMID:30916489|PMID:32707200|PMID:32851342|PMID:8845852 11726784 ABCA12 ATP binding cassette subfamily A member 12 gene DOID:0060713 autosomal recessive congenital ichthyosis 4B ISO RGD:1312110 D RGD:7240710 20180130 OMIM 11726784 ABCA12 ATP binding cassette subfamily A member 12 gene DOID:0060713 autosomal recessive congenital ichthyosis 4B ISO RGD:1312110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4B PMID:15756637|PMID:16902423|PMID:17684380|PMID:19262603|PMID:19664001|PMID:20672373|PMID:25741868|PMID:26740202|PMID:28492532|PMID:28851938|PMID:29543227|PMID:29880184|PMID:30916489|PMID:31168818|PMID:31586585|PMID:34906502|PMID:35216886 11726784 ABCA12 ATP binding cassette subfamily A member 12 gene DOID:630 genetic disease ISO RGD:1312110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726784 ABCA12 ATP binding cassette subfamily A member 12 gene DOID:9002801 Recurrence ISO RGD:1312110 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 11726784 ABCA12 ATP binding cassette subfamily A member 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11726784 ABCA12 ATP binding cassette subfamily A member 12 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1312110 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 11726784 ABCA12 ATP binding cassette subfamily A member 12 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1312110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 11726784 ABCA12 ATP binding cassette subfamily A member 12 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1312110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:28492532 11726784 ABCA12 ATP binding cassette subfamily A member 12 gene DOID:936 brain disease ISO RGD:1312110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868 11726841 LOC100973106 P antigen family member 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11726841 LOC100973106 P antigen family member 5 gene DOID:12849 autistic disorder ISO RGD:1604258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11726854 ZNF518A zinc finger protein 518A gene DOID:0060027 agammaglobulinemia 4 ISO RGD:1348764 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive PMID:10583958|PMID:17576681|PMID:24582315|PMID:25741868|PMID:28492532|PMID:9536098 11726854 ZNF518A zinc finger protein 518A gene DOID:630 genetic disease ISO RGD:1348764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11726865 TKFC triokinase and FMN cyclase gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1607064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11726865 TKFC triokinase and FMN cyclase gene DOID:1059 intellectual disability ISO RGD:1607064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11726865 TKFC triokinase and FMN cyclase gene DOID:630 genetic disease ISO RGD:1607064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726865 TKFC triokinase and FMN cyclase gene DOID:655 inherited metabolic disorder ISO RGD:1607064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn errors of metabolism PMID:25741868|PMID:32004446 11726865 TKFC triokinase and FMN cyclase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1607064 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11726865 TKFC triokinase and FMN cyclase gene DOID:9001881 TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME ISO RGD:1607064 D RGD:7240710 20211103 OMIM 11726865 TKFC triokinase and FMN cyclase gene DOID:9001881 TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME ISO RGD:1607064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Triokinase and FMN cyclase deficiency syndrome PMID:25741868|PMID:32004446 11726901 ELMO2 engulfment and cell motility 2 gene DOID:2234 focal epilepsy ISO RGD:1314023 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11726901 ELMO2 engulfment and cell motility 2 gene DOID:630 genetic disease ISO RGD:1314023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726901 ELMO2 engulfment and cell motility 2 gene DOID:9007873 Primary Intraosseous Vascular Malformation ISO RGD:1314023 D RGD:7240710 20190315 OMIM 11726901 ELMO2 engulfment and cell motility 2 gene DOID:9007873 Primary Intraosseous Vascular Malformation ISO RGD:1314023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular malformation, primary intraosseous PMID:11932989|PMID:25741868|PMID:27476657 11726949 KPNA6 karyopherin subunit alpha 6 gene DOID:630 genetic disease ISO RGD:1315261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11726974 COL6A2 collagen type VI alpha 2 chain gene DOID:0050558 Ullrich congenital muscular dystrophy ISO RGD:1313701 D RGD:7240710 20180130 OMIM 11726974 COL6A2 collagen type VI alpha 2 chain gene DOID:0050558 Ullrich congenital muscular dystrophy ISO RGD:1313701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1, autosomal dominant PMID:11381124|PMID:11506412|PMID:12218063|PMID:15563506|PMID:15689448|PMID:16075202|PMID:16199547|PMID:16935502|PMID:17886299|PMID:18366090|PMID:18414213|PMID:19309692|PMID:19344236|PMID:19564581|PMID:19884007|PMID:20106987|PMID:20576434|PMID:20729548|PMID:20976770|PMID:21280092|PMID:22075033|PMID:23040494|PMID:23757202|PMID:23940025|PMID:24033266|PMID:24038877|PMID:24271325|PMID:24314752|PMID:24801232|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:30564623|PMID:32860008|PMID:33481221|PMID:34167565|PMID:7695699|PMID:8218237 11726974 COL6A2 collagen type VI alpha 2 chain gene DOID:0050663 Bethlem myopathy ISO RGD:1313701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bethlem myopathy | ClinVar Annotator: match by term: Muscular dystrophy, benign congenital PMID:12840783|PMID:15689448|PMID:16130093|PMID:16199547|PMID:16935502|PMID:17576681|PMID:17886299|PMID:18160674|PMID:18366090|PMID:18378883|PMID:18414213|PMID:18825676|PMID:19309692|PMID:19564581|PMID:19884007|PMID:19949035|PMID:20576434|PMID:20729548|PMID:20976770|PMID:21280092|PMID:22992134|PMID:23040494|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24314752|PMID:24801232|PMID:25533456|PMID:25535305|PMID:25635128|PMID:25741868|PMID:26467025|PMID:26752647|PMID:27159402|PMID:27447704|PMID:27456059|PMID:27782108|PMID:27854218|PMID:28492532|PMID:28660205|PMID:29406609|PMID:29419890|PMID:30564623|PMID:31127727|PMID:34167565|PMID:9536098 11726974 COL6A2 collagen type VI alpha 2 chain gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1313701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11726974 COL6A2 collagen type VI alpha 2 chain gene DOID:0080600 COVID-19 ISO RGD:1313701 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11726974 COL6A2 collagen type VI alpha 2 chain gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1313701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 11726974 COL6A2 collagen type VI alpha 2 chain gene DOID:0110266 cataract 9 multiple types ISO RGD:1313701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11726974 COL6A2 collagen type VI alpha 2 chain gene DOID:0111679 glutamate formiminotransferase deficiency ISO RGD:1313701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutamate formiminotransferase deficiency PMID:18414213|PMID:24801232|PMID:25741868|PMID:26467025|PMID:28492532 11726974 COL6A2 collagen type VI alpha 2 chain gene DOID:12849 autistic disorder ISO RGD:1313701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11726974 COL6A2 collagen type VI alpha 2 chain gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1313701 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 11726974 COL6A2 collagen type VI alpha 2 chain gene DOID:423 myopathy ISO RGD:1313701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy PMID:19884007|PMID:19949035|PMID:25741868|PMID:28492532|PMID:29419890|PMID:31127727|PMID:33481221 11726974 COL6A2 collagen type VI alpha 2 chain gene DOID:630 genetic disease ISO RGD:1313701 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15563506|PMID:15689448|PMID:17785673|PMID:17886299|PMID:19344236|PMID:20976770|PMID:24038877|PMID:24271325|PMID:25204870|PMID:25741868|PMID:27854218|PMID:28492532|PMID:30564623|PMID:34167565|PMID:7695699|PMID:8218237 11726974 COL6A2 collagen type VI alpha 2 chain gene DOID:8398 osteoarthritis ISO RGD:1313701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11726974 COL6A2 collagen type VI alpha 2 chain gene DOID:891 progressive myoclonus epilepsy ISO RGD:1313701 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11726974 COL6A2 collagen type VI alpha 2 chain gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1313701 D RGD:7240710 20190327 OMIM 11726974 COL6A2 collagen type VI alpha 2 chain gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1313701 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:11381124|PMID:11865138|PMID:12218063|PMID:12840783|PMID:15563506|PMID:15689448|PMID:16130093|PMID:16199547|PMID:16935502|PMID:17576681|PMID:17785673|PMID:17886299|PMID:18160674|PMID:18366090|PMID:18378883|PMID:18414213|PMID:18825676|PMID:18852439|PMID:19309692|PMID:19344236|PMID:19564581|PMID:19884007|PMID:19949035|PMID:20106987|PMID:20301676|PMID:20576434|PMID:20729548|PMID:20976770|PMID:21280092|PMID:21520333|PMID:22075033|PMID:22992134|PMID:23040494|PMID:23170014|PMID:23326386|PMID:23757202|PMID:23940025|PMID:24033266|PMID:24038877|PMID:24134684|PMID:24271325|PMID:24314752|PMID:24801232|PMID:25204870|PMID:25211533|PMID:25326637|PMID:25380242|PMID:25533456|PMID:25535305|PMID:25635128|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26752647|PMID:27159402|PMID:27363342|PMID:27447704|PMID:27453230|PMID:27456059|PMID:27782108|PMID:27854218|PMID:28492532|PMID:28600779|PMID:28660205|PMID:28688748|PMID:28831785|PMID:29172004|PMID:29406609|PMID:29419890|PMID:30564623|PMID:30755392|PMID:31066050|PMID:31127727|PMID:32053901|PMID:32065942|PMID:32403337|PMID:32528171|PMID:32860008|PMID:33146414|PMID:33250842|PMID:33481221|PMID:34167565|PMID:4793163|PMID:7695699|PMID:7785673|PMID:8218237|PMID:8782832|PMID:9334230|PMID:9536098 11726974 COL6A2 collagen type VI alpha 2 chain gene DOID:9001550 Bethlem Myopathy 1 susceptibility ISO RGD:1313701 D RGD:9068941 20200609 RGD Bethlem myopathy, OMIM:158810, DNA:mutation:cds:898G>A, p.G250S(human) PMID:8782832|REF_RGD_ID:1600934 11726974 COL6A2 collagen type VI alpha 2 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1305585 D RGD:9068941 20200609 RGD Protein:increased expression:liver PMID:7791542|REF_RGD_ID:1600938 11726974 COL6A2 collagen type VI alpha 2 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11726974 COL6A2 collagen type VI alpha 2 chain gene DOID:9005532 Muscle Weakness ISO RGD:1313701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:19309692|PMID:20576434|PMID:21280092|PMID:24033266|PMID:24314752|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:30755392 11726974 COL6A2 collagen type VI alpha 2 chain gene DOID:9005560 Congenital Hip Dislocation ISO RGD:1313701 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital hip dislocation PMID:19309692|PMID:20576434|PMID:21280092|PMID:24033266|PMID:24314752|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532 11726974 COL6A2 collagen type VI alpha 2 chain gene DOID:9007114 Mobility Limitation ISO RGD:1313701 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Difficulty walking PMID:19309692|PMID:20576434|PMID:21280092|PMID:24033266|PMID:24314752|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532 11726974 COL6A2 collagen type VI alpha 2 chain gene DOID:9007626 Myosclerosis, Autosomal Recessive ISO RGD:1313701 D RGD:7240710 20180130 OMIM 11726974 COL6A2 collagen type VI alpha 2 chain gene DOID:9007626 Myosclerosis, Autosomal Recessive ISO RGD:1313701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYOSCLEROSIS, CONGENITAL, OF LOWENTHAL | ClinVar Annotator: match by term: Myosclerosis | ClinVar Annotator: match by term: Myosclerosis, autosomal recessive PMID:12840783|PMID:15689448|PMID:16130093|PMID:16935502|PMID:17576681|PMID:17886299|PMID:18378883|PMID:18414213|PMID:18852439|PMID:19309692|PMID:19564581|PMID:19949035|PMID:20301676|PMID:20576434|PMID:21280092|PMID:22992134|PMID:23040494|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24314752|PMID:24801232|PMID:25535305|PMID:25741868|PMID:26467025|PMID:26752647|PMID:27447704|PMID:27456059|PMID:27782108|PMID:27854218|PMID:28492532|PMID:31127727|PMID:34167565|PMID:4793163|PMID:9536098 11726974 COL6A2 collagen type VI alpha 2 chain gene DOID:9007913 Collagen VI-related Myopathy ISO RGD:1313701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:12840783|PMID:15689448|PMID:16130093|PMID:16199547|PMID:16935502|PMID:17576681|PMID:17886299|PMID:18160674|PMID:18378883|PMID:18414213|PMID:18825676|PMID:19309692|PMID:19564581|PMID:19884007|PMID:19949035|PMID:20301676|PMID:20576434|PMID:20729548|PMID:20976770|PMID:21280092|PMID:22992134|PMID:23040494|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24271325|PMID:24314752|PMID:24801232|PMID:25533456|PMID:25535305|PMID:25635128|PMID:25741868|PMID:26467025|PMID:26752647|PMID:27159402|PMID:27447704|PMID:27456059|PMID:27782108|PMID:27854218|PMID:28492532|PMID:28660205|PMID:29419890|PMID:30564623|PMID:31127727|PMID:34167565|PMID:9536098 11726974 COL6A2 collagen type VI alpha 2 chain gene DOID:9263 homocystinuria ISO RGD:1313701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11726974 COL6A2 collagen type VI alpha 2 chain gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11726974 COL6A2 collagen type VI alpha 2 chain gene DOID:9884 muscular dystrophy ISO RGD:1313701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:25535305|PMID:25741868 11727005 FMN2 formin 2 gene DOID:0081211 autosomal recessive intellectual developmental disorder 47 ISO RGD:1345437 D RGD:7240710 20180130 OMIM 11727005 FMN2 formin 2 gene DOID:0081211 autosomal recessive intellectual developmental disorder 47 ISO RGD:1345437 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 47 PMID:25741868|PMID:28492532 11727005 FMN2 formin 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1345437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 11727005 FMN2 formin 2 gene DOID:1059 intellectual disability ISO RGD:1345437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11727005 FMN2 formin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1345437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11727005 FMN2 formin 2 gene DOID:4450 renal cell carcinoma ISO RGD:1345437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 11727005 FMN2 formin 2 gene DOID:630 genetic disease ISO RGD:1345437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11727005 FMN2 formin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 11727005 FMN2 formin 2 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1345437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 11727005 FMN2 formin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11727028 NEK2 NIMA related kinase 2 gene DOID:0080600 COVID-19 ISO RGD:732517 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11727028 NEK2 NIMA related kinase 2 gene DOID:0110359 retinitis pigmentosa 67 ISO RGD:732517 D RGD:7240710 20180130 OMIM 11727028 NEK2 NIMA related kinase 2 gene DOID:0110359 retinitis pigmentosa 67 ISO RGD:732517 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 67 PMID:16199547|PMID:24033266|PMID:25741868|PMID:28492532 11727028 NEK2 NIMA related kinase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:732517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11727028 NEK2 NIMA related kinase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28509438 11727028 NEK2 NIMA related kinase 2 gene DOID:630 genetic disease ISO RGD:732517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11727028 NEK2 NIMA related kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:732517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11727028 NEK2 NIMA related kinase 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28509438 11727028 NEK2 NIMA related kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11727047 LOC100977156 zinc finger protein 816 gene DOID:630 genetic disease ISO RGD:1604241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11727047 LOC100977156 zinc finger protein 816 gene DOID:8893 psoriasis ISO RGD:1604241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953187|PMID:24212883 11727058 MYH6 myosin heavy chain 6 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:737147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:16199547|PMID:25741868|PMID:28492532|PMID:28991257|PMID:29132927 11727058 MYH6 myosin heavy chain 6 gene DOID:0050451 Brugada syndrome ISO RGD:737147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:23861362|PMID:24033266|PMID:25741868|PMID:27789736|PMID:28492532|PMID:29332214|PMID:30868567|PMID:31376648 11727058 MYH6 myosin heavy chain 6 gene DOID:0050700 cardiomyopathy ISO RGD:737147 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:15998695|PMID:16199547|PMID:20215591|PMID:20656787|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24119082|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25467552|PMID:25500235|PMID:25741868|PMID:25931334|PMID:26085007|PMID:26220970|PMID:26272908|PMID:26350513|PMID:26383259|PMID:26656175|PMID:27194543|PMID:27650965|PMID:27760138|PMID:27789736|PMID:27930701|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28088328|PMID:28166811|PMID:28416588|PMID:28492532|PMID:28600387|PMID:28611029|PMID:28771489|PMID:28797094|PMID:28991257|PMID:29332214|PMID:29420653|PMID:29511324|PMID:29517769|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30975432|PMID:31308319|PMID:31376648|PMID:32004434 11727058 MYH6 myosin heavy chain 6 gene DOID:0050700 cardiomyopathy ISO RGD:737147 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:15998695|PMID:16199547|PMID:17576681|PMID:20215591|PMID:20656787|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24119082|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25467552|PMID:25500235|PMID:25741868|PMID:25931334|PMID:26085007|PMID:26220970|PMID:26272908|PMID:26350513|PMID:26383259|PMID:26656175|PMID:27194543|PMID:27650965|PMID:27760138|PMID:27789736|PMID:27930701|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28088328|PMID:28416588|PMID:28492532|PMID:28600387|PMID:28611029|PMID:28771489|PMID:28797094|PMID:28991257|PMID:29332214|PMID:29420653|PMID:29511324|PMID:29517769|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30975432|PMID:31308319|PMID:31376648|PMID:31737537|PMID:31847883|PMID:32004434|PMID:32277046|PMID:9536098 11727058 MYH6 myosin heavy chain 6 gene DOID:0050820 atrioventricular block ISO RGD:737147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AV Block Third Degree Adverse Event PMID:17576681|PMID:28492532|PMID:9536098 11727058 MYH6 myosin heavy chain 6 gene DOID:0060224 atrial fibrillation ISO RGD:737147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 11727058 MYH6 myosin heavy chain 6 gene DOID:0060253 scapuloperoneal myopathy ISO RGD:737147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scapuloperoneal myopathy 11727058 MYH6 myosin heavy chain 6 gene DOID:0060319 cardiac arrest ISO RGD:737147 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:25741868 11727058 MYH6 myosin heavy chain 6 gene DOID:0060439 lysinuric protein intolerance ISO RGD:737147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11727058 MYH6 myosin heavy chain 6 gene DOID:0060480 left ventricular noncompaction ISO RGD:737147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:24033266|PMID:25741868|PMID:28492532 11727058 MYH6 myosin heavy chain 6 gene DOID:0070197 distal myopathy 1 ISO RGD:737147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Laing early-onset distal myopathy | ClinVar Annotator: match by term: Myopathy, distal, 1 11727058 MYH6 myosin heavy chain 6 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737147 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:15998695|PMID:20215591|PMID:20458009|PMID:20656787|PMID:22011241|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24119082|PMID:25351510|PMID:25448463|PMID:25467552|PMID:25500235|PMID:25741868|PMID:25931334|PMID:26085007|PMID:26656175|PMID:27194543|PMID:27650965|PMID:27760138|PMID:27789736|PMID:28074886|PMID:28088328|PMID:28255936|PMID:28416588|PMID:28492532|PMID:29368431|PMID:29511324|PMID:29875424|PMID:30282064|PMID:30403391|PMID:30775854|PMID:30847666|PMID:31513939|PMID:31737537|PMID:31983221|PMID:32880476|PMID:33325730|PMID:35026164|PMID:35621855 11727058 MYH6 myosin heavy chain 6 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:737147 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:25741868|PMID:28492532 11727058 MYH6 myosin heavy chain 6 gene DOID:0110108 atrial heart septal defect 3 ISO RGD:737147 D RGD:7240710 20180130 OMIM 11727058 MYH6 myosin heavy chain 6 gene DOID:0110108 atrial heart septal defect 3 ISO RGD:737147 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Atrial septal defect 3 PMID:11815426|PMID:15735645|PMID:15998695|PMID:16199547|PMID:17576681|PMID:20215591|PMID:20656787|PMID:21483645|PMID:21822268|PMID:22011241|PMID:22194935|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24120998|PMID:24123366|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25741868|PMID:26085007|PMID:26220970|PMID:26272908|PMID:26458567|PMID:26656175|PMID:27483260|PMID:27532257|PMID:27788187|PMID:27789736|PMID:27930701|PMID:28082330|PMID:28087566|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28750076|PMID:28771489|PMID:28797094|PMID:28798025|PMID:28902392|PMID:28991257|PMID:29247119|PMID:29255176|PMID:29332214|PMID:29368431|PMID:29420653|PMID:29582157|PMID:29687901|PMID:29875424|PMID:29907873|PMID:29915097|PMID:30293987|PMID:30403391|PMID:30471092|PMID:30716529|PMID:30847666|PMID:30975432|PMID:31376648|PMID:31513939|PMID:31737537|PMID:31847883|PMID:31983221|PMID:32004434|PMID:32512245|PMID:32746448|PMID:32880476|PMID:32969603|PMID:33325730|PMID:33500567|PMID:34088380|PMID:34298581|PMID:34426522|PMID:34598319|PMID:35026164|PMID:35208637|PMID:9536098 11727058 MYH6 myosin heavy chain 6 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737147 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:11815426|PMID:15998695|PMID:16199547|PMID:16858239|PMID:17576681|PMID:20031618|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20458009|PMID:20656787|PMID:21302287|PMID:21378987|PMID:21483645|PMID:21822268|PMID:21835320|PMID:22011241|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23674513|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24119082|PMID:24120998|PMID:24123366|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25448463|PMID:25467552|PMID:25500235|PMID:25741868|PMID:25931334|PMID:26085007|PMID:26220970|PMID:26272908|PMID:26458567|PMID:26656175|PMID:27194543|PMID:27483260|PMID:27532257|PMID:27600940|PMID:27650965|PMID:27760138|PMID:27788187|PMID:27789736|PMID:27930701|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28088328|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28750076|PMID:28771489|PMID:28797094|PMID:28798025|PMID:28902392|PMID:28991257|PMID:29247119|PMID:29255176|PMID:29332214|PMID:29368431|PMID:29420653|PMID:29511324|PMID:29582157|PMID:29687901|PMID:29875424|PMID:29907873|PMID:29915097|PMID:30282064|PMID:30293987|PMID:30385303|PMID:30403391|PMID:30471092|PMID:30716529|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30975432|PMID:31376648|PMID:31513939|PMID:31737537|PMID:31847883|PMID:31983221|PMID:32004434|PMID:32512245|PMID:32746448|PMID:32880476|PMID:32969603|PMID:33325730|PMID:33500567|PMID:34088380|PMID:34426522|PMID:34598319|PMID:35026164|PMID:35208637|PMID:35621855|PMID:7731997|PMID:9172070|PMID:9536098 11727058 MYH6 myosin heavy chain 6 gene DOID:0110320 hypertrophic cardiomyopathy 14 ISO RGD:737147 D RGD:7240710 20180130 OMIM 11727058 MYH6 myosin heavy chain 6 gene DOID:0110320 hypertrophic cardiomyopathy 14 ISO RGD:737147 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 14 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 PMID:11815426|PMID:15735645|PMID:15998695|PMID:16199547|PMID:17576681|PMID:19336582|PMID:20215591|PMID:20458009|PMID:20656787|PMID:21378987|PMID:21483645|PMID:21822268|PMID:22011241|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24119082|PMID:24120998|PMID:24123366|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25447171|PMID:25448463|PMID:25467552|PMID:25500235|PMID:25717017|PMID:25741868|PMID:25931334|PMID:26085007|PMID:26220970|PMID:26272908|PMID:26284702|PMID:26350513|PMID:26383259|PMID:26458567|PMID:26573135|PMID:26656175|PMID:26735901|PMID:27058611|PMID:27194543|PMID:27483260|PMID:27532257|PMID:27600940|PMID:27650965|PMID:27707468|PMID:27760138|PMID:27788187|PMID:27789736|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28088328|PMID:28255936|PMID:28323875|PMID:28416588|PMID:28491533|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28549997|PMID:28600387|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28797094|PMID:28798025|PMID:28853722|PMID:28902392|PMID:28991257|PMID:29050564|PMID:29132927|PMID:29247119|PMID:29255176|PMID:29332214|PMID:29368431|PMID:29420653|PMID:29511324|PMID:29517769|PMID:29536580|PMID:29582157|PMID:29590334|PMID:29687901|PMID:29697798|PMID:29875424|PMID:29907873|PMID:29915097|PMID:29988065|PMID:30029678|PMID:30086531|PMID:30165862|PMID:30282064|PMID:30293987|PMID:30385303|PMID:30403391|PMID:30471092|PMID:30716529|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30959811|PMID:30975432|PMID:31308319|PMID:31376648|PMID:31513939|PMID:31514951|PMID:31737537|PMID:31847883|PMID:31983221|PMID:32004434|PMID:32183154|PMID:32233023|PMID:32277046|PMID:32410215|PMID:32512245|PMID:32656206|PMID:32746448|PMID:32764337|PMID:32840935|PMID:32880476|PMID:32969603|PMID:32978841|PMID:33082984|PMID:33131162|PMID:33325730|PMID:33500567|PMID:33658040|PMID:33874732|PMID:34045587|PMID:34088380|PMID:34426522|PMID:34598319|PMID:34805759|PMID:35026164|PMID:35208637|PMID:35456442|PMID:35621855|PMID:7731997|PMID:9172070|PMID:9536098 11727058 MYH6 myosin heavy chain 6 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:737147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:24033266|PMID:25741868|PMID:28082330|PMID:28492532|PMID:33500567 11727058 MYH6 myosin heavy chain 6 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:737147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:24033266|PMID:25741868|PMID:28082330|PMID:28492532|PMID:33500567 11727058 MYH6 myosin heavy chain 6 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:737147 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:15998695|PMID:20215591|PMID:21483645|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:27532257|PMID:27788187|PMID:28492532|PMID:29687901 11727058 MYH6 myosin heavy chain 6 gene DOID:0110453 dilated cardiomyopathy 1EE ISO RGD:737147 D RGD:7240710 20180130 OMIM 11727058 MYH6 myosin heavy chain 6 gene DOID:0110453 dilated cardiomyopathy 1EE ISO RGD:737147 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1EE PMID:11815426|PMID:15998695|PMID:16199547|PMID:17576681|PMID:20215591|PMID:20656787|PMID:21483645|PMID:21822268|PMID:22011241|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24119082|PMID:24120998|PMID:24123366|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25741868|PMID:26085007|PMID:26220970|PMID:26272908|PMID:26458567|PMID:26656175|PMID:27194543|PMID:27483260|PMID:27532257|PMID:27788187|PMID:27789736|PMID:27930701|PMID:28082330|PMID:28087566|PMID:28088328|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28750076|PMID:28771489|PMID:28797094|PMID:28798025|PMID:28902392|PMID:28991257|PMID:29247119|PMID:29255176|PMID:29332214|PMID:29368431|PMID:29420653|PMID:29582157|PMID:29687901|PMID:29875424|PMID:29907873|PMID:29915097|PMID:30293987|PMID:30403391|PMID:30471092|PMID:30716529|PMID:30847666|PMID:30975432|PMID:31376648|PMID:31513939|PMID:31737537|PMID:31847883|PMID:31983221|PMID:32004434|PMID:32512245|PMID:32746448|PMID:32880476|PMID:32969603|PMID:33325730|PMID:33500567|PMID:34088380|PMID:34426522|PMID:34598319|PMID:35026164|PMID:35208637|PMID:9536098 11727058 MYH6 myosin heavy chain 6 gene DOID:0111267 hyaline body myopathy ISO RGD:737147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myosin storage myopathy 11727058 MYH6 myosin heavy chain 6 gene DOID:0111269 autosomal dominant hyaline body myopathy ISO RGD:737147 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT 11727058 MYH6 myosin heavy chain 6 gene DOID:10969 hemiplegia ISO RGD:737147 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hemiplegia PMID:15998695|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 11727058 MYH6 myosin heavy chain 6 gene DOID:114 heart disease ISO RGD:737147 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Heart disease PMID:23861362|PMID:25741868|PMID:28492532|PMID:30847666|PMID:31847883 11727058 MYH6 myosin heavy chain 6 gene DOID:11720 distal myopathy ISO RGD:737147 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY 11727058 MYH6 myosin heavy chain 6 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737147 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:15998695|PMID:20656787|PMID:22011241|PMID:23861362|PMID:24033266|PMID:24082139|PMID:25351510|PMID:25741868|PMID:27600940|PMID:27789736|PMID:28416588|PMID:28492532|PMID:28750076|PMID:28771489|PMID:29255176|PMID:29332214|PMID:29420653|PMID:29875424|PMID:30847666|PMID:30868567|PMID:31376648|PMID:31513939|PMID:31737537|PMID:32880476|PMID:32969603 11727058 MYH6 myosin heavy chain 6 gene DOID:12930 dilated cardiomyopathy ISO RGD:737147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15998695|PMID:20215591|PMID:20656787|PMID:21483645|PMID:22011241|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24119082|PMID:25741868|PMID:27194543|PMID:27789736|PMID:28082330|PMID:28088328|PMID:28166811|PMID:28416588|PMID:28492532|PMID:29875424|PMID:31513939 11727058 MYH6 myosin heavy chain 6 gene DOID:12930 dilated cardiomyopathy ISO RGD:737147 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15998695|PMID:20215591|PMID:20656787|PMID:21483645|PMID:22011241|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24119082|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25741868|PMID:27194543|PMID:27532257|PMID:27788187|PMID:27789736|PMID:28082330|PMID:28088328|PMID:28416588|PMID:28492532|PMID:28750076|PMID:29420653|PMID:29687901|PMID:29875424|PMID:30847666|PMID:31513939|PMID:31514951|PMID:31737537 11727058 MYH6 myosin heavy chain 6 gene DOID:12930 dilated cardiomyopathy ISO RGD:737147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15998695|PMID:20215591|PMID:20656787|PMID:21483645|PMID:22011241|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24119082|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25741868|PMID:27194543|PMID:27532257|PMID:27788187|PMID:27789736|PMID:28082330|PMID:28088328|PMID:28416588|PMID:28492532|PMID:28750076|PMID:29420653|PMID:29687901|PMID:29875424|PMID:30847666|PMID:31513939|PMID:31514951|PMID:31737537|PMID:32880476|PMID:33500567 11727058 MYH6 myosin heavy chain 6 gene DOID:13884 sick sinus syndrome ISO RGD:737147 D RGD:9068941 20210813 CTD CTD Direct Evidence: marker/mechanism PMID:21378987 11727058 MYH6 myosin heavy chain 6 gene DOID:1459 hypothyroidism ISO RGD:62029 D RGD:9068941 20200609 RGD PMID:1703406|REF_RGD_ID:12798563 11727058 MYH6 myosin heavy chain 6 gene DOID:1682 congenital heart disease ISO RGD:737147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25326635|PMID:25741868 11727058 MYH6 myosin heavy chain 6 gene DOID:1882 atrial heart septal defect ISO RGD:737147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:23861362|PMID:24033266|PMID:25741868|PMID:28416588|PMID:28492532|PMID:28750076 11727058 MYH6 myosin heavy chain 6 gene DOID:2843 long QT syndrome ISO RGD:737147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:25741868|PMID:28492532 11727058 MYH6 myosin heavy chain 6 gene DOID:2843 long QT syndrome ISO RGD:737147 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:25351510|PMID:25741868|PMID:26383259|PMID:28492532|PMID:28600387|PMID:30847666 11727058 MYH6 myosin heavy chain 6 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:737147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:15998695|PMID:20215591|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24119082|PMID:25741868|PMID:27194543|PMID:28088328|PMID:28492532|PMID:32233023 11727058 MYH6 myosin heavy chain 6 gene DOID:397 restrictive cardiomyopathy ISO RGD:737147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 11727058 MYH6 myosin heavy chain 6 gene DOID:5844 myocardial infarction ISO RGD:62029 D RGD:9068941 20200609 RGD PMID:15090263|REF_RGD_ID:11565830 11727058 MYH6 myosin heavy chain 6 gene DOID:6000 congestive heart failure ISO RGD:737147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congestive heart failure | ClinVar Annotator: match by term: Heart failure PMID:20656787|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 11727058 MYH6 myosin heavy chain 6 gene DOID:6000 congestive heart failure treatment ISO RGD:62029 D RGD:9068941 20200609 RGD associated with Myocardial Infarction PMID:18088389|REF_RGD_ID:12792974 11727058 MYH6 myosin heavy chain 6 gene DOID:630 genetic disease ISO RGD:737147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20656787|PMID:21378987|PMID:22955375|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26085007|PMID:26573135|PMID:27650965|PMID:27789736|PMID:28074886|PMID:28492532|PMID:29511324|PMID:30775854|PMID:33658040 11727058 MYH6 myosin heavy chain 6 gene DOID:6364 migraine ISO RGD:737147 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Migraine Disorders PMID:15998695|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 11727058 MYH6 myosin heavy chain 6 gene DOID:9000184 Ventricular Fibrillation ISO RGD:737147 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:25741868|PMID:28492532|PMID:28600387 11727058 MYH6 myosin heavy chain 6 gene DOID:9000265 Specific Granule Deficiency ISO RGD:737147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 11727058 MYH6 myosin heavy chain 6 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:737147 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:27789736|PMID:28491533|PMID:28492532|PMID:29332214|PMID:30868567|PMID:31376648 11727058 MYH6 myosin heavy chain 6 gene DOID:9001215 Sick Sinus Syndrome 3 ISO RGD:737147 D RGD:7240710 20210811 OMIM 11727058 MYH6 myosin heavy chain 6 gene DOID:9001215 Sick Sinus Syndrome 3 ISO RGD:737147 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome 3, susceptibility to PMID:11815426|PMID:15998695|PMID:16199547|PMID:17576681|PMID:20215591|PMID:20656787|PMID:21378987|PMID:21483645|PMID:21822268|PMID:22011241|PMID:22194935|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24120998|PMID:24123366|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25717017|PMID:25741868|PMID:26085007|PMID:26220970|PMID:26272908|PMID:26458567|PMID:27483260|PMID:27532257|PMID:27788187|PMID:27789736|PMID:27930701|PMID:28082330|PMID:28087566|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28750076|PMID:28771489|PMID:28797094|PMID:28798025|PMID:28902392|PMID:28991257|PMID:29050564|PMID:29247119|PMID:29255176|PMID:29332214|PMID:29368431|PMID:29420653|PMID:29582157|PMID:29590334|PMID:29687901|PMID:29875424|PMID:29907873|PMID:29915097|PMID:30293987|PMID:30403391|PMID:30471092|PMID:30716529|PMID:30847666|PMID:30975432|PMID:31376648|PMID:31513939|PMID:31737537|PMID:31847883|PMID:31983221|PMID:32004434|PMID:32277046|PMID:32512245|PMID:32746448|PMID:32880476|PMID:32969603|PMID:33325730|PMID:33500567|PMID:34088380|PMID:34426522|PMID:34598319|PMID:35026164|PMID:35208637|PMID:9536098 11727058 MYH6 myosin heavy chain 6 gene DOID:9002311 Experimental Autoimmune Myocarditis ISO RGD:733823 D RGD:9068941 20200609 RGD PMID:10199887|REF_RGD_ID:12792956 11727058 MYH6 myosin heavy chain 6 gene DOID:9002311 Experimental Autoimmune Myocarditis ISO RGD:737147 D RGD:9068941 20200609 RGD PMID:10199887|REF_RGD_ID:12792956 11727058 MYH6 myosin heavy chain 6 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:737147 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:23861362|PMID:24033266|PMID:25741868|PMID:27789736|PMID:28492532|PMID:29332214|PMID:30868567|PMID:31376648 11727058 MYH6 myosin heavy chain 6 gene DOID:9003163 Heart Block ISO RGD:737147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:25741868 11727058 MYH6 myosin heavy chain 6 gene DOID:9003936 Cardiomegaly ISO RGD:62029 D RGD:9068941 20200609 RGD PMID:1703406|REF_RGD_ID:12798563 11727058 MYH6 myosin heavy chain 6 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:62029 D RGD:9068941 20200609 RGD PMID:2950137|REF_RGD_ID:12792943 11727058 MYH6 myosin heavy chain 6 gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:733823 D RGD:9068941 20200609 RGD PMID:17592507|REF_RGD_ID:12792940 11727058 MYH6 myosin heavy chain 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:737147 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11727058 MYH6 myosin heavy chain 6 gene DOID:9005141 Ventricular Tachycardia ISO RGD:737147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:15998695|PMID:20215591|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24119082|PMID:25741868|PMID:27194543|PMID:28088328|PMID:28492532 11727058 MYH6 myosin heavy chain 6 gene DOID:9005930 Endotoxemia ISO RGD:62029 D RGD:9068941 20200609 RGD PMID:7874842|REF_RGD_ID:12792976 11727058 MYH6 myosin heavy chain 6 gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:737147 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:24120998|PMID:25741868|PMID:27483260|PMID:27789736|PMID:28492532|PMID:29875424|PMID:30847666|PMID:32880476|PMID:35208637 11727058 MYH6 myosin heavy chain 6 gene DOID:9007925 Sudden Cardiac Death ISO RGD:737147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:15998695|PMID:20215591|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24119082|PMID:25741868|PMID:27194543|PMID:28088328|PMID:28492532 11727058 MYH6 myosin heavy chain 6 gene DOID:9775 diastolic heart failure ISO RGD:737147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 11727101 PAQR8 progestin and adipoQ receptor family member 8 gene DOID:630 genetic disease ISO RGD:1323309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11727106 MAVS mitochondrial antiviral signaling protein gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1606258 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11727106 MAVS mitochondrial antiviral signaling protein gene DOID:2366 West Nile fever severity ISO RGD:1614930 D RGD:9068941 20210108 RGD PMID:28094802|REF_RGD_ID:40903045 11727106 MAVS mitochondrial antiviral signaling protein gene DOID:3298 vaccinia treatment ISO RGD:1614930 D RGD:9068941 20210108 RGD PMID:26849062|REF_RGD_ID:40903043 11727106 MAVS mitochondrial antiviral signaling protein gene DOID:3482 plague susceptibility ISO RGD:1614930 D RGD:9068941 20210108 RGD PMID:25064677|REF_RGD_ID:40903046 11727106 MAVS mitochondrial antiviral signaling protein gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1606258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:25741868|PMID:28492532 11727106 MAVS mitochondrial antiviral signaling protein gene DOID:630 genetic disease ISO RGD:1606258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11727106 MAVS mitochondrial antiviral signaling protein gene DOID:8469 influenza treatment ISO RGD:1614930 D RGD:9068941 20201225 RGD PMID:31461653|REF_RGD_ID:40902992 11727106 MAVS mitochondrial antiviral signaling protein gene DOID:9000371 influenza A disease_progression ISO RGD:1614930 D RGD:9068941 20210108 RGD PMID:27438481|REF_RGD_ID:40903047 11727106 MAVS mitochondrial antiviral signaling protein gene DOID:9000645 Rotavirus Infections severity ISO RGD:1614930 D RGD:9068941 20210108 RGD PMID:30460894|REF_RGD_ID:40903048 11727106 MAVS mitochondrial antiviral signaling protein gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1606258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 11727106 MAVS mitochondrial antiviral signaling protein gene DOID:9005757 Metapneumovirus infections severity ISO RGD:1614930 D RGD:9068941 20210108 RGD PMID:25953917|REF_RGD_ID:40903044 11727131 CHST2 carbohydrate sulfotransferase 2 gene DOID:630 genetic disease ISO RGD:1315916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11727136 FUZ fuzzy planar cell polarity protein gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1602203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:29068549 11727136 FUZ fuzzy planar cell polarity protein gene DOID:0080074 neural tube defect ISO RGD:1602203 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neural tube defect | ClinVar Annotator: match by term: Neural tube defects, susceptibility to PMID:21840926|PMID:25741868|PMID:28492532 11727136 FUZ fuzzy planar cell polarity protein gene DOID:0080074 neural tube defect susceptibility ISO RGD:1602203 D RGD:7240710 20190502 OMIM 11727136 FUZ fuzzy planar cell polarity protein gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1602203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11727136 FUZ fuzzy planar cell polarity protein gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1602203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:29068549 11727136 FUZ fuzzy planar cell polarity protein gene DOID:630 genetic disease ISO RGD:1602203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11727160 SUV39H2 SUV39H2 histone lysine methyltransferase gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1315884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11727160 SUV39H2 SUV39H2 histone lysine methyltransferase gene DOID:0080915 histiocytic sarcoma ISO RGD:1315884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Histiocytic medullary reticulosis PMID:25741868 11727160 SUV39H2 SUV39H2 histone lysine methyltransferase gene DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation ISO RGD:1315884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency PMID:25741868|PMID:28492532 11727160 SUV39H2 SUV39H2 histone lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1315884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11727160 SUV39H2 SUV39H2 histone lysine methyltransferase gene DOID:9000954 Parakeratosis ISO RGD:12434198 D RGD:9068941 20210604 OMIA Nasal parakeratosis PMID:12662268|PMID:12895224|PMID:24098150|PMID:29423952|PMID:32119674 11727190 RHEB Ras homolog, mTORC1 binding gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1353122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 11727190 RHEB Ras homolog, mTORC1 binding gene DOID:1826 epilepsy ISO RGD:1353122 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11727190 RHEB Ras homolog, mTORC1 binding gene DOID:2671 transitional cell carcinoma ISO RGD:1353122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:26619011 11727190 RHEB Ras homolog, mTORC1 binding gene DOID:2843 long QT syndrome ISO RGD:1353122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 11727190 RHEB Ras homolog, mTORC1 binding gene DOID:363 uterine cancer ISO RGD:1353122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:26619011 11727190 RHEB Ras homolog, mTORC1 binding gene DOID:3908 lung non-small cell carcinoma ISO RGD:1353122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20554106 11727190 RHEB Ras homolog, mTORC1 binding gene DOID:4450 renal cell carcinoma ISO RGD:1353122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:26619011 11727190 RHEB Ras homolog, mTORC1 binding gene DOID:4465 papillary renal cell carcinoma ISO RGD:1353122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:26619011 11727190 RHEB Ras homolog, mTORC1 binding gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1353122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:26619011 11727190 RHEB Ras homolog, mTORC1 binding gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:1353122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:26619011 11727190 RHEB Ras homolog, mTORC1 binding gene DOID:9008237 Hemimegalencephaly ISO RGD:1353122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hemimegalencephaly PMID:30414531 11727217 KNL1 kinetochore scaffold 1 gene DOID:0070291 primary autosomal recessive microcephaly 4 ISO RGD:1603976 D RGD:7240710 20180130 OMIM 11727217 KNL1 kinetochore scaffold 1 gene DOID:0070291 primary autosomal recessive microcephaly 4 ISO RGD:1603976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly 4, primary, autosomal recessive PMID:10521316|PMID:18414213|PMID:22983954|PMID:25741868|PMID:26626498|PMID:27149178|PMID:28454995|PMID:28492532 11727217 KNL1 kinetochore scaffold 1 gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:1603976 D RGD:9068941 20200609 RGD DNA:mutation:cds: c.6125 G>A,p. M2041I(human) PMID:22983954|REF_RGD_ID:9685043 11727217 KNL1 kinetochore scaffold 1 gene DOID:0080600 COVID-19 ISO RGD:1603976 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11727217 KNL1 kinetochore scaffold 1 gene DOID:10907 microcephaly ISO RGD:1603976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary Microcephaly, Recessive PMID:18414213|PMID:25741868|PMID:28492532 11727217 KNL1 kinetochore scaffold 1 gene DOID:1115 sarcoma treatment ISO RGD:1603976 D RGD:9068941 20220303 RGD PMID:31089155|REF_RGD_ID:151660332 11727217 KNL1 kinetochore scaffold 1 gene DOID:2717 Bloom syndrome ISO RGD:1603976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11727217 KNL1 kinetochore scaffold 1 gene DOID:630 genetic disease ISO RGD:1603976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28454995|PMID:28492532 11727217 KNL1 kinetochore scaffold 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1603976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11727217 KNL1 kinetochore scaffold 1 gene DOID:9256 colorectal cancer ISO RGD:1603976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11727319 TSPAN33 tetraspanin 33 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11727319 TSPAN33 tetraspanin 33 gene DOID:630 genetic disease ISO RGD:1604171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:0050469 Costello syndrome ISO RGD:732023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17703371 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732023 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:17704260|PMID:18060073|PMID:18632602|PMID:19344873|PMID:19411838|PMID:20301365|PMID:22327936|PMID:24033266|PMID:25049390|PMID:25157968|PMID:25741868|PMID:28492532|PMID:29402968|PMID:30763456|PMID:31487502 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:732023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:23444215|PMID:25157968|PMID:26619011 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:732023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome PMID:12612583|PMID:15917206|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17704260|PMID:17981815|PMID:18039235|PMID:1804226|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19344873|PMID:19376813|PMID:19411838|PMID:19915144|PMID:20301365|PMID:20354455|PMID:21062266|PMID:21107320|PMID:22177953|PMID:22197931|PMID:22327936|PMID:22848035|PMID:23093928|PMID:23444215|PMID:23569304|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24458522|PMID:24637312|PMID:24803665|PMID:25049390|PMID:25157968|PMID:25326635|PMID:25423878|PMID:25741868|PMID:26350204|PMID:26619011|PMID:26795593|PMID:27862862|PMID:28049852|PMID:28492532|PMID:29402968|PMID:29493581|PMID:29643386|PMID:29907801|PMID:30087384|PMID:30141192|PMID:30763456|PMID:31487502|PMID:31942422|PMID:31972311|PMID:32005694|PMID:32978145|PMID:33482860 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:0060578 Noonan syndrome 1 ISO RGD:732023 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:12612583|PMID:15917206|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17981815|PMID:18042262|PMID:18413255|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19376813|PMID:22177953|PMID:22848035|PMID:23093928|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24637312|PMID:25326635|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26795593|PMID:27862862|PMID:28492532|PMID:30087384|PMID:31942422 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:0080690 RASopathy ISO RGD:732023 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:12370306|PMID:12612583|PMID:15917206|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17576681|PMID:17704260|PMID:17981815|PMID:18039235|PMID:1804226|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19344873|PMID:19376813|PMID:19411838|PMID:19915144|PMID:20301365|PMID:20354455|PMID:21062266|PMID:22177953|PMID:22197931|PMID:22327936|PMID:22588879|PMID:22848035|PMID:23093928|PMID:23321623|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24637312|PMID:25049390|PMID:25157968|PMID:25326635|PMID:25423878|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26619011|PMID:26795593|PMID:27862862|PMID:28049852|PMID:28492532|PMID:28955999|PMID:29402968|PMID:30763456|PMID:31487502|PMID:31942422|PMID:9536098 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:0080690 RASopathy ISO RGD:732023 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12370306|PMID:12612583|PMID:15917206|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17576681|PMID:17704260|PMID:17981815|PMID:18039235|PMID:1804226|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19344873|PMID:19376813|PMID:19411838|PMID:19915144|PMID:20301365|PMID:20354455|PMID:21062266|PMID:22177953|PMID:22197931|PMID:22327936|PMID:22588879|PMID:22848035|PMID:23093928|PMID:23321623|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24637312|PMID:25049390|PMID:25157968|PMID:25326635|PMID:25423878|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26619011|PMID:26795593|PMID:27862862|PMID:28049852|PMID:28492532|PMID:28955999|PMID:29402968|PMID:30087384|PMID:30763456|PMID:31487502|PMID:31942422|PMID:9536098 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:0080690 RASopathy ISO RGD:732023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12370306|PMID:12612583|PMID:15917206|PMID:16199547|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17576681|PMID:17704260|PMID:17981815|PMID:18039235|PMID:1804226|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18456719|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19344873|PMID:19376813|PMID:19411838|PMID:19915144|PMID:20301365|PMID:20354455|PMID:21062266|PMID:21107320|PMID:22177953|PMID:22197931|PMID:22327936|PMID:22588879|PMID:22848035|PMID:23093928|PMID:23321623|PMID:23569304|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24637312|PMID:24803665|PMID:24982505|PMID:25049390|PMID:25157968|PMID:25326635|PMID:25344691|PMID:25423878|PMID:25741868|PMID:25741869|PMID:26343583|PMID:26350204|PMID:26619011|PMID:26795593|PMID:26918529|PMID:27862862|PMID:28049852|PMID:28492532|PMID:28955999|PMID:29402968|PMID:29753091|PMID:29907801|PMID:30087384|PMID:30763456|PMID:31487502|PMID:31942422|PMID:32005694|PMID:32978145|PMID:33502061|PMID:34006472|PMID:9536098 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:0111462 cardiofaciocutaneous syndrome 3 ISO RGD:732023 D RGD:7240710 20180130 OMIM 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:0111462 cardiofaciocutaneous syndrome 3 ISO RGD:732023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 3 | ClinVar Annotator: match by term: MAP2K1-Related Disorder PMID:12370306|PMID:12612583|PMID:15917206|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17704260|PMID:17981815|PMID:18039235|PMID:1804226|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18456719|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19344873|PMID:19376813|PMID:19411838|PMID:19915144|PMID:20301365|PMID:21062266|PMID:21107320|PMID:22177953|PMID:22197931|PMID:22327936|PMID:22588879|PMID:22848035|PMID:23093928|PMID:23569304|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24458522|PMID:24637312|PMID:24803665|PMID:25049390|PMID:25157968|PMID:25326635|PMID:25423878|PMID:25741868|PMID:25741869|PMID:26343583|PMID:26350204|PMID:26619011|PMID:26795593|PMID:27862862|PMID:28049852|PMID:28492532|PMID:29402968|PMID:29493581|PMID:29753091|PMID:29907801|PMID:30087384|PMID:30141192|PMID:30763456|PMID:31487502|PMID:31942422|PMID:31972311|PMID:32005694|PMID:32978145|PMID:33128510|PMID:33482860|PMID:34006472 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:0111563 Sturge-Weber syndrome ISO RGD:732023 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Parkes Weber syndrome PMID:25741868 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:732023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:14566 disease of cellular proliferation ISO RGD:732023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:19915144|PMID:23614898|PMID:28492532 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:1612 breast cancer ISO RGD:732023 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:tumor PMID:10216485|REF_RGD_ID:2292627 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:1909 melanoma ISO RGD:732023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:17366577|PMID:17551924|PMID:17704260|PMID:18060073|PMID:18456719|PMID:18632602|PMID:19344873|PMID:19411838|PMID:19915144|PMID:20301365|PMID:21107320|PMID:21383288|PMID:22197931|PMID:22327936|PMID:22588879|PMID:22622578|PMID:23444215|PMID:23569304|PMID:23614898|PMID:24033266|PMID:24448821|PMID:24803665|PMID:25049390|PMID:25157968|PMID:25741868|PMID:26343583|PMID:26619011|PMID:27862862|PMID:28049852|PMID:28492532|PMID:28495673|PMID:29402968|PMID:29643386|PMID:30763456|PMID:31487502|PMID:32005694|PMID:32978145|PMID:7651428 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:2316 brain ischemia ISO RGD:1550208 D RGD:9068941 20200609 RGD PMID:10536014|REF_RGD_ID:1582169 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:2316 brain ischemia ISO RGD:732023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17901229 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:732023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:23444215|PMID:25157968|PMID:26619011 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:70495 D RGD:9068941 20200609 RGD metastasis; inhibition reduced invasiveness of prostate tumor cells PMID:12688676|REF_RGD_ID:2292631 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:2671 transitional cell carcinoma ISO RGD:732023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:17366577|PMID:17551924|PMID:19915144|PMID:21107320|PMID:22197931|PMID:22588879|PMID:23569304|PMID:24033266|PMID:24803665|PMID:25157968|PMID:25741868|PMID:26343583|PMID:26619011|PMID:27862862|PMID:28049852|PMID:28492532|PMID:32005694|PMID:32978145 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:2717 Bloom syndrome ISO RGD:732023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:285 hairy cell leukemia ISO RGD:732023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24241536 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:3070 high grade glioma ISO RGD:732023 D RGD:9068941 20200609 RGD PMID:21057530|REF_RGD_ID:13702863 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:3490 Noonan syndrome ISO RGD:732023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome PMID:17366577|PMID:17704260|PMID:18060073|PMID:18456719|PMID:18632602|PMID:19344873|PMID:19411838|PMID:19915144|PMID:20301365|PMID:22197931|PMID:22327936|PMID:22588879|PMID:24033266|PMID:25049390|PMID:25157968|PMID:25741868|PMID:26343583|PMID:26619011|PMID:27862862|PMID:28049852|PMID:28492532|PMID:29402968|PMID:30763456|PMID:31487502|PMID:32978145 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:363 uterine cancer ISO RGD:732023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:17366577|PMID:17551924|PMID:19915144|PMID:21107320|PMID:22197931|PMID:22588879|PMID:23569304|PMID:24033266|PMID:24803665|PMID:25157968|PMID:25741868|PMID:26343583|PMID:26619011|PMID:27862862|PMID:28049852|PMID:28492532|PMID:32005694|PMID:32978145 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:732023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:23444215|PMID:25157968|PMID:26619011 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:732023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:25741868 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung cancer | ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:17704260|PMID:18060073|PMID:18632602|PMID:19411838|PMID:19915144|PMID:20301365|PMID:22327936|PMID:23444215|PMID:23569304|PMID:24033266|PMID:25049390|PMID:25157968|PMID:25741868|PMID:28492532|PMID:29643386|PMID:30763456|PMID:7651428 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732023 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:17704260|PMID:18060073|PMID:18632602|PMID:19344873|PMID:19411838|PMID:19915144|PMID:20301365|PMID:22327936|PMID:23444215|PMID:23569304|PMID:24033266|PMID:25049390|PMID:25157968|PMID:25741868|PMID:28492532|PMID:29402968|PMID:29643386|PMID:30763456|PMID:31487502|PMID:7651428 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:62181 D RGD:9068941 20211210 RGD PMID:21514245|REF_RGD_ID:150530476 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:732023 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:18632602|PMID:21383288|PMID:22197931|PMID:22588879|PMID:23444215|PMID:24448821|PMID:25157968|PMID:25741868|PMID:26619011|PMID:29643386 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:4001 ovarian carcinoma ISO RGD:732023 D RGD:9068941 20200609 RGD PMID:12644821|REF_RGD_ID:2306053 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:4074 pancreatic adenocarcinoma severity ISO RGD:732023 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:19513748|REF_RGD_ID:13838840 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:732023 D RGD:9068941 20200609 RGD human tissue in a mouse model PMID:28849200|REF_RGD_ID:13838804 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:4253 melorheostosis ISO RGD:732023 D RGD:7240710 20200701 OMIM 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:4253 melorheostosis ISO RGD:732023 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MELORHEOSTOSIS, ISOLATED | ClinVar Annotator: match by term: Melorheostosis PMID:12612583|PMID:15917206|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17704260|PMID:17981815|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19344873|PMID:19376813|PMID:19411838|PMID:19915144|PMID:20301365|PMID:22177953|PMID:22327936|PMID:22848035|PMID:23093928|PMID:23444215|PMID:23569304|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24637312|PMID:25049390|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26350204|PMID:26795593|PMID:27862862|PMID:28492532|PMID:29402968|PMID:29643386|PMID:30087384|PMID:30763456|PMID:31487502|PMID:31942422|PMID:7651428 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:732023 D RGD:9068941 20200609 RGD inhibition suppressed tumor growth and vascularization in an RCC xenograft model PMID:18172299|REF_RGD_ID:2292630 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:732023 D RGD:9068941 20200609 RGD protein:increased expression:tumor:13/25 cases (52%) PMID:7664295|REF_RGD_ID:2292629 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:4906 small intestine adenocarcinoma ISO RGD:732023 D RGD:9068941 20200609 RGD PMID:19014680|REF_RGD_ID:13464351 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:4989 pancreatitis severity ISO RGD:1550208 D RGD:9068941 20200609 RGD PMID:28090569|REF_RGD_ID:13838805 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:732023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:23444215|PMID:25157968|PMID:26619011 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:6000 congestive heart failure ISO RGD:732023 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:630 genetic disease ISO RGD:732023 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12612583|PMID:15917206|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17981815|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19376813|PMID:19915144|PMID:22177953|PMID:22197931|PMID:22848035|PMID:23093928|PMID:23569304|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24637312|PMID:25326635|PMID:25741868|PMID:26350204|PMID:26795593|PMID:27862862|PMID:28049852|PMID:28492532|PMID:28495673|PMID:29493581|PMID:30087384|PMID:31942422 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:83 cataract ISO RGD:70495 D RGD:9068941 20200609 RGD PMID:11222509|REF_RGD_ID:12801446 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:8923 skin melanoma ISO RGD:732023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:17366577|PMID:17551924|PMID:19915144|PMID:21107320|PMID:22197931|PMID:22588879|PMID:23444215|PMID:23569304|PMID:24033266|PMID:24803665|PMID:25157968|PMID:25741868|PMID:26343583|PMID:26619011|PMID:27862862|PMID:28049852|PMID:28492532|PMID:32005694|PMID:32978145 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:70495 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:liver PMID:15520221|REF_RGD_ID:2306052 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732023 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32512071 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:9002682 Cardiovascular Abnormalities susceptibility ISO RGD:732023 D RGD:9068941 20200609 RGD PMID:16439621|REF_RGD_ID:1580093 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:732023 D RGD:9068941 20200609 RGD PMID:18060073|REF_RGD_ID:2298686 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:732023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:17366577|PMID:17551924|PMID:19915144|PMID:21107320|PMID:22197931|PMID:22588879|PMID:23569304|PMID:24033266|PMID:24803665|PMID:25157968|PMID:25741868|PMID:26343583|PMID:26619011|PMID:27862862|PMID:28049852|PMID:28492532|PMID:32005694|PMID:32978145 11727333 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:9256 colorectal cancer ISO RGD:732023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11727348 NAA35 N-alpha-acetyltransferase 35, NatC auxiliary subunit gene DOID:630 genetic disease ISO RGD:1347911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11727389 FUS FUS RNA binding protein gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1318882 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant PMID:28492532 11727389 FUS FUS RNA binding protein gene DOID:0060198 amyotrophic lateral sclerosis type 6 ISO RGD:1318882 D RGD:7240710 20180130 OMIM 11727389 FUS FUS RNA binding protein gene DOID:0060198 amyotrophic lateral sclerosis type 6 ISO RGD:1318882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 6, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6 PMID:12840784|PMID:12858291|PMID:16199547|PMID:17576681|PMID:19251627|PMID:19251628|PMID:19450904|PMID:19741215|PMID:19741216|PMID:19861302|PMID:20018407|PMID:20124201|PMID:20138404|PMID:20142531|PMID:20232451|PMID:20385912|PMID:20472325|PMID:20544928|PMID:20577002|PMID:20579074|PMID:20598774|PMID:20606625|PMID:20621307|PMID:20660363|PMID:20668259|PMID:20668261|PMID:20674093|PMID:20699327|PMID:21158017|PMID:21261515|PMID:21280085|PMID:21487023|PMID:21604077|PMID:21881207|PMID:21907581|PMID:21943958|PMID:21949354|PMID:21965298|PMID:22055719|PMID:22292843|PMID:22340366|PMID:22645277|PMID:22722621|PMID:22863194|PMID:22980027|PMID:23046859|PMID:23056579|PMID:23085990|PMID:23217123|PMID:23257289|PMID:23545117|PMID:23577159|PMID:23731953|PMID:23834335|PMID:23834483|PMID:23847048|PMID:23881933|PMID:24033266|PMID:24080306|PMID:24204307|PMID:24262168|PMID:24280224|PMID:24439481|PMID:24575823|PMID:24738488|PMID:24899262|PMID:24908169|PMID:25173930|PMID:25274782|PMID:25289647|PMID:25324524|PMID:25382069|PMID:25457557|PMID:25525159|PMID:25558820|PMID:25585530|PMID:25625564|PMID:25631824|PMID:25681989|PMID:25741868|PMID:26251528|PMID:26452761|PMID:26467025|PMID:26500017|PMID:26601740|PMID:26725112|PMID:26788680|PMID:26795035|PMID:27123482|PMID:27604643|PMID:28273913|PMID:28288521|PMID:28429524|PMID:28430856|PMID:28492532|PMID:28642336|PMID:29525178|PMID:29547565|PMID:30279455|PMID:30349096|PMID:30455313|PMID:30507891|PMID:30879340|PMID:31682085|PMID:31692161|PMID:32038460|PMID:32116048|PMID:32638105|PMID:32951934|PMID:33082139|PMID:33159016|PMID:9536098 11727389 FUS FUS RNA binding protein gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1318882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11727389 FUS FUS RNA binding protein gene DOID:0111431 essential tremor 4 ISO RGD:1318882 D RGD:7240710 20180130 OMIM 11727389 FUS FUS RNA binding protein gene DOID:0111431 essential tremor 4 ISO RGD:1318882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor, hereditary essential, 4 PMID:19741215|PMID:19861302|PMID:20018407|PMID:20138404|PMID:20142531|PMID:21158017|PMID:21261515|PMID:21943958|PMID:22292843|PMID:22863194|PMID:23834483|PMID:25382069|PMID:25558820|PMID:25585530|PMID:25741868|PMID:26467025|PMID:26725112|PMID:28430856|PMID:28492532|PMID:30279455|PMID:32638105 11727389 FUS FUS RNA binding protein gene DOID:1115 sarcoma ISO RGD:1318882 D RGD:9068941 20200609 RGD PMID:21658743|PMID:21677541|REF_RGD_ID:5509905|REF_RGD_ID:5509906 11727389 FUS FUS RNA binding protein gene DOID:12377 spinal muscular atrophy ISO RGD:1318882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy 11727389 FUS FUS RNA binding protein gene DOID:1289 neurodegenerative disease ISO RGD:1318882 D RGD:9068941 20200609 RGD PMID:21908872|REF_RGD_ID:5509901 11727389 FUS FUS RNA binding protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1318882 D RGD:9068941 20200609 RGD PMID:21408206|PMID:22055719|REF_RGD_ID:5509900|REF_RGD_ID:9685710 11727389 FUS FUS RNA binding protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1318882 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:28478440|PMID:29419416|PMID:29434138|PMID:30455313 11727389 FUS FUS RNA binding protein gene DOID:3382 liposarcoma ISO RGD:1318882 D RGD:9068941 20200609 RGD PMID:20332486|REF_RGD_ID:5509913 11727389 FUS FUS RNA binding protein gene DOID:5363 myxoid liposarcoma ISO RGD:1318882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7503811|PMID:8510758 11727389 FUS FUS RNA binding protein gene DOID:543 dystonia ISO RGD:1318882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868 11727389 FUS FUS RNA binding protein gene DOID:630 genetic disease ISO RGD:1318882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19741215|PMID:19741216|PMID:19861302|PMID:20018407|PMID:20138404|PMID:20142531|PMID:20385912|PMID:21158017|PMID:21261515|PMID:21943958|PMID:22292843|PMID:22722621|PMID:22863194|PMID:23834483|PMID:25382069|PMID:25558820|PMID:25585530|PMID:25631824|PMID:25741868|PMID:26467025|PMID:26725112|PMID:28430856|PMID:28492532|PMID:29547565|PMID:30270202|PMID:30279455|PMID:32638105 11727389 FUS FUS RNA binding protein gene DOID:9000276 Juvenile Amyotrophic Lateral Sclerosis ISO RGD:1318882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis PMID:19251627|PMID:19450904|PMID:20579074|PMID:20606625|PMID:20668261|PMID:21280085|PMID:21604077|PMID:21881207|PMID:21907581|PMID:21949354|PMID:22980027|PMID:23056579|PMID:23085990|PMID:23881933|PMID:24899262|PMID:25173930|PMID:25625564|PMID:25741868|PMID:26251528|PMID:26467025|PMID:27123482|PMID:28492532 11727389 FUS FUS RNA binding protein gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1318882 D RGD:9068941 20200609 RGD PMID:21408206|PMID:21847626|REF_RGD_ID:5509902|REF_RGD_ID:9685710 11727389 FUS FUS RNA binding protein gene DOID:9255 frontotemporal dementia ISO RGD:1318882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:22863194|PMID:25382069|PMID:25558820|PMID:25741868|PMID:26467025|PMID:28430856|PMID:28492532|PMID:30279455|PMID:32638105 11727414 AP1B1 adaptor related protein complex 1 subunit beta 1 gene DOID:0050144 Kartagener syndrome ISO RGD:737610 D RGD:9068941 20220825 MouseDO 11727414 AP1B1 adaptor related protein complex 1 subunit beta 1 gene DOID:0050545 visceral heterotaxy ISO RGD:737610 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 11727414 AP1B1 adaptor related protein complex 1 subunit beta 1 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1350470 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 11727414 AP1B1 adaptor related protein complex 1 subunit beta 1 gene DOID:630 genetic disease ISO RGD:1350470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:30367527 11727414 AP1B1 adaptor related protein complex 1 subunit beta 1 gene DOID:9001276 Failure to Thrive ISO RGD:1350470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868 11727414 AP1B1 adaptor related protein complex 1 subunit beta 1 gene DOID:9007169 Ichthyosiform Erythroderma, Corneal Involvement, Deafness ISO RGD:1350470 D RGD:7240710 20200422 OMIM 11727414 AP1B1 adaptor related protein complex 1 subunit beta 1 gene DOID:9007169 Ichthyosiform Erythroderma, Corneal Involvement, Deafness ISO RGD:1350470 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autosomal recessive keratitis-ichthyosis-deafness syndrome PMID:25741868|PMID:31630788|PMID:31630791|PMID:32969855|PMID:33349978|PMID:33452671|PMID:35144013 11727414 AP1B1 adaptor related protein complex 1 subunit beta 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1350470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 11727414 AP1B1 adaptor related protein complex 1 subunit beta 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:737610 D RGD:9068941 20220825 MouseDO 11727457 ABRAXAS1 abraxas 1, BRCA1 A complex subunit gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1604576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 11727457 ABRAXAS1 abraxas 1, BRCA1 A complex subunit gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1604576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532|PMID:32566746 11727457 ABRAXAS1 abraxas 1, BRCA1 A complex subunit gene DOID:630 genetic disease ISO RGD:1604576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11727457 ABRAXAS1 abraxas 1, BRCA1 A complex subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604576 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24240112|PMID:25741868|PMID:26556299|PMID:26845104|PMID:27270457|PMID:28166811|PMID:28492532|PMID:31159747|PMID:31361614|PMID:31980526 11727457 ABRAXAS1 abraxas 1, BRCA1 A complex subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604576 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17525340|PMID:17643121|PMID:22357538|PMID:24240112|PMID:25503501|PMID:25741868|PMID:26556299|PMID:26845104|PMID:27270457|PMID:28492532|PMID:31000350|PMID:31159747|PMID:31361614|PMID:31630195|PMID:31980526|PMID:32566746|PMID:32658311|PMID:33471991|PMID:34117267 11727457 ABRAXAS1 abraxas 1, BRCA1 A complex subunit gene DOID:9256 colorectal cancer ISO RGD:1604576 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:25741868|PMID:28492532 11727470 ZBTB18 zinc finger and BTB domain containing 18 gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:1551787 D RGD:9068941 20220825 MouseDO 11727470 ZBTB18 zinc finger and BTB domain containing 18 gene DOID:0070052 autosomal dominant intellectual developmental disorder 22 ISO RGD:1346592 D RGD:7240710 20180130 OMIM 11727470 ZBTB18 zinc finger and BTB domain containing 18 gene DOID:0070052 autosomal dominant intellectual developmental disorder 22 ISO RGD:1346592 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 22 | ClinVar Annotator: match by term: ZBTB18-Related Disorder PMID:24193349|PMID:25741868|PMID:26740508|PMID:27598823|PMID:28135719|PMID:28283832|PMID:28492532|PMID:29158550|PMID:29573576 11727470 ZBTB18 zinc finger and BTB domain containing 18 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1346592 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11727470 ZBTB18 zinc finger and BTB domain containing 18 gene DOID:1059 intellectual disability ISO RGD:1346592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:27598823|PMID:28135719|PMID:28283832|PMID:29573576 11727470 ZBTB18 zinc finger and BTB domain containing 18 gene DOID:1540 parathyroid carcinoma ISO RGD:1346592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11727470 ZBTB18 zinc finger and BTB domain containing 18 gene DOID:630 genetic disease ISO RGD:1346592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356970|PMID:25741868|PMID:26740508|PMID:27598823|PMID:28135719|PMID:28283832|PMID:28492532 11727470 ZBTB18 zinc finger and BTB domain containing 18 gene DOID:9002186 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 ISO RGD:1346592 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 PMID:25087610 11727470 ZBTB18 zinc finger and BTB domain containing 18 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1346592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:28492532 11727470 ZBTB18 zinc finger and BTB domain containing 18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 11727470 ZBTB18 zinc finger and BTB domain containing 18 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1346592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11727470 ZBTB18 zinc finger and BTB domain containing 18 gene DOID:9008086 Developmental Disabilities ISO RGD:1346592 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:36937954 11727470 ZBTB18 zinc finger and BTB domain containing 18 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11727479 RRBP1 ribosome binding protein 1 gene DOID:630 genetic disease ISO RGD:1315209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11727516 ZNF577 zinc finger protein 577 gene DOID:630 genetic disease ISO RGD:1350365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11727562 ZNF853 zinc finger protein 853 gene DOID:630 genetic disease ISO RGD:2302454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11727568 SLC35E2B solute carrier family 35 member E2B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:4109106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11727568 SLC35E2B solute carrier family 35 member E2B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:4109106 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11727568 SLC35E2B solute carrier family 35 member E2B gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:4109106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11727568 SLC35E2B solute carrier family 35 member E2B gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:4109106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11727568 SLC35E2B solute carrier family 35 member E2B gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:4109106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11727568 SLC35E2B solute carrier family 35 member E2B gene DOID:0110994 Joubert syndrome 25 ISO RGD:4109106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11727568 SLC35E2B solute carrier family 35 member E2B gene DOID:0111934 immunodeficiency 38 ISO RGD:4109106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11727568 SLC35E2B solute carrier family 35 member E2B gene DOID:0111935 immunodeficiency 16 ISO RGD:4109106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11727568 SLC35E2B solute carrier family 35 member E2B gene DOID:1827 idiopathic generalized epilepsy ISO RGD:4109106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11727568 SLC35E2B solute carrier family 35 member E2B gene DOID:630 genetic disease ISO RGD:4109106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11727568 SLC35E2B solute carrier family 35 member E2B gene DOID:9002189 High Myopia ISO RGD:4109106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11727568 SLC35E2B solute carrier family 35 member E2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:4109106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11727568 SLC35E2B solute carrier family 35 member E2B gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:4109106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11727568 SLC35E2B solute carrier family 35 member E2B gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:4109106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11727593 HTATIP2 HIV-1 Tat interactive protein 2 gene DOID:1059 intellectual disability ISO RGD:1320556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11727593 HTATIP2 HIV-1 Tat interactive protein 2 gene DOID:630 genetic disease ISO RGD:1320556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11727593 HTATIP2 HIV-1 Tat interactive protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1320556 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16799960 11727611 IKBIP IKBKB interacting protein gene DOID:630 genetic disease ISO RGD:1605589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11727630 ENTPD4 ectonucleoside triphosphate diphosphohydrolase 4 gene DOID:630 genetic disease ISO RGD:1319889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11727630 ENTPD4 ectonucleoside triphosphate diphosphohydrolase 4 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1319889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 11727655 CFAP107 cilia and flagella associated protein 107 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602191 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11727666 LOC100970414 histone H3.3A gene DOID:1540 parathyroid carcinoma ISO RGD:1317993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11727666 LOC100970414 histone H3.3A gene DOID:3068 glioblastoma ISO RGD:1317993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:26619011|PMID:26822237 11727666 LOC100970414 histone H3.3A gene DOID:3070 high grade glioma ISO RGD:1317993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brainstem glioma PMID:26619011 11727666 LOC100970414 histone H3.3A gene DOID:3948 adrenocortical carcinoma ISO RGD:1317993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma PMID:26619011 11727666 LOC100970414 histone H3.3A gene DOID:4305 bone giant cell tumor ISO RGD:1317993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24162739 11727666 LOC100970414 histone H3.3A gene DOID:630 genetic disease ISO RGD:1317993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21636898|PMID:24493739|PMID:25741868|PMID:26139371|PMID:26159857|PMID:33268356|PMID:34876591 11727666 LOC100970414 histone H3.3A gene DOID:9001391 Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 ISO RGD:1317993 D RGD:7240710 20220216 OMIM 11727666 LOC100970414 histone H3.3A gene DOID:9001391 Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 ISO RGD:1317993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bryant-Li-Bhoj neurodevelopmental syndrome 1 PMID:21636898|PMID:24493739|PMID:25741868|PMID:26139371|PMID:26159857|PMID:28492532|PMID:33268356|PMID:34876591 11727666 LOC100970414 histone H3.3A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11727666 LOC100970414 histone H3.3A gene DOID:9007502 Brain Neoplasms ISO RGD:1317993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of brain PMID:26619011 11727666 LOC100970414 histone H3.3A gene DOID:9007653 Multiple Abnormalities ISO RGD:1317993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: H3F3A-related condition PMID:24493739|PMID:25741868|PMID:26139371|PMID:26159857|PMID:33268356 11727666 LOC100970414 histone H3.3A gene DOID:9008086 Developmental Disabilities ISO RGD:1317993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:21636898|PMID:25741868|PMID:33268356|PMID:34876591 11727666 LOC100970414 histone H3.3A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11727674 OLFML3 olfactomedin like 3 gene DOID:0080690 RASopathy ISO RGD:1322385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11727674 OLFML3 olfactomedin like 3 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1322385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 11727674 OLFML3 olfactomedin like 3 gene DOID:10283 prostate cancer ISO RGD:1322385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11727674 OLFML3 olfactomedin like 3 gene DOID:630 genetic disease ISO RGD:1322385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11727674 OLFML3 olfactomedin like 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11727681 SCAMP2 secretory carrier membrane protein 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:68490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11727681 SCAMP2 secretory carrier membrane protein 2 gene DOID:2717 Bloom syndrome ISO RGD:68490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11727681 SCAMP2 secretory carrier membrane protein 2 gene DOID:5419 schizophrenia ISO RGD:68490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11727681 SCAMP2 secretory carrier membrane protein 2 gene DOID:630 genetic disease ISO RGD:68490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11727681 SCAMP2 secretory carrier membrane protein 2 gene DOID:9256 colorectal cancer ISO RGD:68490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11727694 MEAF6 MYST/Esa1 associated factor 6 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1604318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11727694 MEAF6 MYST/Esa1 associated factor 6 gene DOID:630 genetic disease ISO RGD:1604318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11727706 TMEM268 transmembrane protein 268 gene DOID:630 genetic disease ISO RGD:1312125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11727731 CHMP5 charged multivesicular body protein 5 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1314312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11727731 CHMP5 charged multivesicular body protein 5 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1314312 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11727731 CHMP5 charged multivesicular body protein 5 gene DOID:0080600 COVID-19 ISO RGD:1314312 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11727731 CHMP5 charged multivesicular body protein 5 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1314312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11727731 CHMP5 charged multivesicular body protein 5 gene DOID:630 genetic disease ISO RGD:1314312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11727731 CHMP5 charged multivesicular body protein 5 gene DOID:9119 acute myeloid leukemia ISO RGD:1314312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17708794 11727731 CHMP5 charged multivesicular body protein 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1314312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11727731 CHMP5 charged multivesicular body protein 5 gene DOID:9870 galactosemia ISO RGD:1314312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11727743 ZNF280B zinc finger protein 280B gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1348223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 11727743 ZNF280B zinc finger protein 280B gene DOID:11198 DiGeorge syndrome ISO RGD:1348223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 11727743 ZNF280B zinc finger protein 280B gene DOID:630 genetic disease ISO RGD:1348223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11727744 LOC100976142 olfactory receptor 5K2 gene DOID:630 genetic disease ISO RGD:1345283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11727747 CHMP1B charged multivesicular body protein 1B gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1603626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11727747 CHMP1B charged multivesicular body protein 1B gene DOID:1059 intellectual disability ISO RGD:1603626 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11727747 CHMP1B charged multivesicular body protein 1B gene DOID:543 dystonia ISO RGD:1603626 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:23222958|PMID:24405754|PMID:25817843|PMID:27123488|PMID:28492532 11727747 CHMP1B charged multivesicular body protein 1B gene DOID:630 genetic disease ISO RGD:1603626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11727752 RANGRF RAN guanine nucleotide release factor gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1602892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11727752 RANGRF RAN guanine nucleotide release factor gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22431104|PMID:23172776|PMID:28492532 11727752 RANGRF RAN guanine nucleotide release factor gene DOID:2729 dyskeratosis congenita ISO RGD:1602892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11727752 RANGRF RAN guanine nucleotide release factor gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1602892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 11727752 RANGRF RAN guanine nucleotide release factor gene DOID:3910 lung adenocarcinoma ISO RGD:1602892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11727752 RANGRF RAN guanine nucleotide release factor gene DOID:630 genetic disease ISO RGD:1602892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11727752 RANGRF RAN guanine nucleotide release factor gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1602892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:17576681|PMID:21447824|PMID:22010171|PMID:25741868|PMID:26903377|PMID:28492532|PMID:30282806|PMID:9536098 11727752 RANGRF RAN guanine nucleotide release factor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1563195 D RGD:9068941 20200609 RGD PMID:8557821|REF_RGD_ID:6771380 11727752 RANGRF RAN guanine nucleotide release factor gene DOID:9006205 Animal Disease Models ISO RGD:1602892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11727769 NCOA2 nuclear receptor coactivator 2 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:732737 D RGD:9068941 20220721 RGD protein:increased expression:colorectal mucosa (human) PMID:19198856|REF_RGD_ID:153002579 11727769 NCOA2 nuclear receptor coactivator 2 gene DOID:0080199 colorectal carcinoma ameliorates ISO RGD:732737 D RGD:9068941 20220721 RGD human gene and cell line in a mouse model PMID:25823027|REF_RGD_ID:11085507 11727769 NCOA2 nuclear receptor coactivator 2 gene DOID:0080199 colorectal carcinoma disease_progression ISO RGD:732737 D RGD:9068941 20220721 RGD protein:increased expression:colorectum, myofibroblast cell, cytoplasm (human) PMID:19277704|REF_RGD_ID:153002577 11727769 NCOA2 nuclear receptor coactivator 2 gene DOID:10283 prostate cancer ISO RGD:732737 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate (human) PMID:20166126|REF_RGD_ID:5688351 11727769 NCOA2 nuclear receptor coactivator 2 gene DOID:10534 stomach cancer ISO RGD:732737 D RGD:9068941 20220721 RGD protein:increased expression:stomach (human) PMID:32489143|REF_RGD_ID:153002574 11727769 NCOA2 nuclear receptor coactivator 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:620108 D RGD:9068941 20220609 RGD PMID:29535146|REF_RGD_ID:152985548 11727769 NCOA2 nuclear receptor coactivator 2 gene DOID:2526 prostate adenocarcinoma ameliorates ISO RGD:732737 D RGD:9068941 20220721 RGD human cells in mouse model PMID:25664849|REF_RGD_ID:153002575 11727769 NCOA2 nuclear receptor coactivator 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732737 D RGD:9068941 20220721 RGD DNA:SNPs:introns: (rs2926702, rs11993276) (human) PMID:23144319|REF_RGD_ID:153002581 11727769 NCOA2 nuclear receptor coactivator 2 gene DOID:630 genetic disease ISO RGD:732737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11727769 NCOA2 nuclear receptor coactivator 2 gene DOID:684 hepatocellular carcinoma ISO RGD:732738 D RGD:9068941 20220721 RGD PMID:28273073|REF_RGD_ID:153002573 11727769 NCOA2 nuclear receptor coactivator 2 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:732738 D RGD:9068941 20220721 RGD PMID:22556267|REF_RGD_ID:153002576 11727769 NCOA2 nuclear receptor coactivator 2 gene DOID:7474 malignant pleural mesothelioma ameliorates ISO RGD:732737 D RGD:9068941 20220721 RGD protein:increased expression:mesothelium of pleural cavity (human) PMID:22011668|REF_RGD_ID:153002578 11727769 NCOA2 nuclear receptor coactivator 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732737 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12237244 11727769 NCOA2 nuclear receptor coactivator 2 gene DOID:9004702 Pregnancy Complications ISO RGD:620108 D RGD:9068941 20200609 RGD mRNA:decreased expression:uterus (rat) PMID:20660062|REF_RGD_ID:5688349 11727769 NCOA2 nuclear receptor coactivator 2 gene DOID:9004980 Chronobiology Disorders ISO RGD:732738 D RGD:9068941 20220721 RGD PMID:27432117|REF_RGD_ID:153002580 11727769 NCOA2 nuclear receptor coactivator 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732737 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20332317 11727769 NCOA2 nuclear receptor coactivator 2 gene DOID:9119 acute myeloid leukemia ISO RGD:732737 D RGD:9068941 20200609 RGD human gene in a mouse model;DNA:translocation:exon PMID:12676584|REF_RGD_ID:9590334 11727814 SMC4 structural maintenance of chromosomes 4 gene DOID:630 genetic disease ISO RGD:1315434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11727845 SLC66A1 solute carrier family 66 member 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1323183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11727845 SLC66A1 solute carrier family 66 member 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1323183 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11727845 SLC66A1 solute carrier family 66 member 1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1323183 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11727845 SLC66A1 solute carrier family 66 member 1 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1323183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11727845 SLC66A1 solute carrier family 66 member 1 gene DOID:630 genetic disease ISO RGD:1323183 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11727845 SLC66A1 solute carrier family 66 member 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1323183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11727861 BLOC1S4 biogenesis of lysosomal organelles complex 1 subunit 4 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1332125 D RGD:9068941 20220825 MouseDO 11727861 BLOC1S4 biogenesis of lysosomal organelles complex 1 subunit 4 gene DOID:630 genetic disease ISO RGD:1602324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:0050700 cardiomyopathy ISO RGD:733895 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12967636 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:0060789 hypomyelinating leukodystrophy 4 ISO RGD:733895 D RGD:7240710 20180130 OMIM 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:0060789 hypomyelinating leukodystrophy 4 ISO RGD:733895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4 PMID:18571143|PMID:24033266|PMID:25741868|PMID:27405012|PMID:28492532 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:733895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:0110766 hereditary spastic paraplegia 13 ISO RGD:733895 D RGD:7240710 20180130 OMIM 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:0110766 hereditary spastic paraplegia 13 ISO RGD:733895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 13 PMID:10677329|PMID:12483302|PMID:17420924|PMID:18414213|PMID:21520333|PMID:22552817|PMID:24033266|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:10603 glucose intolerance disease_progression ISO RGD:733895 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis; PMID:11591125|REF_RGD_ID:12910474 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:10652 Alzheimer's disease ISO RGD:621314 D RGD:9068941 20200609 RGD protein:increased modification:brain PMID:15802185|REF_RGD_ID:1624243 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:10652 Alzheimer's disease ISO RGD:733895 D RGD:9068941 20200609 RGD protein:increased expression:mitochondrion: PMID:22753410|REF_RGD_ID:10402831 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:10652 Alzheimer's disease ISO RGD:733896 D RGD:9068941 20200609 RGD protein:increased expression:cytosol, mitochondrion: PMID:22753410|REF_RGD_ID:10402831 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:10763 hypertension ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:18948349|REF_RGD_ID:10402862 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:10763 hypertension ISO RGD:621314 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, blood vessel PMID:15729290|REF_RGD_ID:1624213 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:10908 hydrocephalus ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:15964663|REF_RGD_ID:1624238 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:733895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9527842 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:12337 varicocele ISO RGD:621314 D RGD:9068941 20200609 RGD mRNA:increased expression:spermatid PMID:15804863|REF_RGD_ID:1624240 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:12849 autistic disorder ISO RGD:733895 D RGD:9068941 20200609 RGD PMID:15138176|REF_RGD_ID:12910475 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:13544 low tension glaucoma ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:20858111|REF_RGD_ID:10402863 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:14250 Down syndrome ISO RGD:733895 D RGD:9068941 20200609 RGD PMID:12515899|REF_RGD_ID:10402838 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:14330 Parkinson's disease ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:23943523|REF_RGD_ID:10402846 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:1485 cystic fibrosis ISO RGD:733895 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:8255671|REF_RGD_ID:12910480 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:2349 arteriosclerosis ISO RGD:733895 D RGD:9068941 20200609 RGD PMID:17070529|REF_RGD_ID:1624204 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:733895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:18414213|PMID:22552817|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27630992|PMID:28166811|PMID:28492532|PMID:28832565 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:733895 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18414213|PMID:22552817|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27630992|PMID:28492532|PMID:28832565 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:2476 hereditary spastic paraplegia susceptibility ISO RGD:733895 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.V72I PMID:11898127|REF_RGD_ID:1624200 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:299 adenocarcinoma ISO RGD:733895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:3393 coronary artery disease severity ISO RGD:733895 D RGD:9068941 20200609 RGD PMID:11222468|REF_RGD_ID:1624218 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:3407 carotid artery disease ISO RGD:733895 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16579988|REF_RGD_ID:1581882 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:733895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:3770 pulmonary fibrosis ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:11746186|REF_RGD_ID:12910545 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:4195 hyperglycemia ISO RGD:621314 D RGD:9068941 20200609 RGD protein:increased expression PMID:15961182|REF_RGD_ID:1624212 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:4450 renal cell carcinoma ISO RGD:733895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:733895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:5844 myocardial infarction ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:17202668|REF_RGD_ID:1624230 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:607 paraplegia ISO RGD:733895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:17420924|PMID:17576681|PMID:18414213|PMID:21520333|PMID:22552817|PMID:24033266|PMID:25326637|PMID:25741868|PMID:26467025|PMID:27630992|PMID:28492532|PMID:28832565|PMID:9536098 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:733895 D RGD:9068941 20200609 RGD protein:increased expression:serum,synovial fluid: PMID:8255671|REF_RGD_ID:12910480 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:7148 rheumatoid arthritis ISO RGD:733895 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood leukocyte: PMID:21417552|REF_RGD_ID:10402843 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:733895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696|PMID:19424620 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:621314 D RGD:9068941 20200609 RGD mRNA:increased expression:brain stem PMID:14753490|REF_RGD_ID:1624246 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9000528 Coronary Disease ISO RGD:733895 D RGD:9068941 20200609 RGD PMID:12059985|REF_RGD_ID:1624217 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:733895 D RGD:9068941 20200609 RGD PMID:12921987|REF_RGD_ID:1624216 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9001205 Experimental Autoimmune Orchitis ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:16092147|REF_RGD_ID:1624236 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:733895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9001916 Fetal Death ISO RGD:733896 D RGD:9068941 20200609 RGD PMID:20393889|REF_RGD_ID:12910472 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9002457 Experimental Arthritis ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:10882416|PMID:15529360|REF_RGD_ID:12910542|REF_RGD_ID:1624244 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9002669 Hypoxia ISO RGD:621314 D RGD:9068941 20200609 RGD associated with Brain Injuries;mRNA:increased expression:brain PMID:17439344|REF_RGD_ID:1624228 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9004283 Transplant Rejection ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:23953577|REF_RGD_ID:12910541 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9004397 calcification of aortic valve severity ISO RGD:733895 D RGD:9068941 20200609 RGD PMID:15120829|REF_RGD_ID:12910476 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9004484 Sepsis ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:23143056|REF_RGD_ID:10402864 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9004484 Sepsis ISO RGD:621314 D RGD:9068941 20200609 RGD associated with burns;protein:decreased expression:skeletal muscle PMID:16483253|REF_RGD_ID:1624233 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9005005 Oral Ulcer ISO RGD:733895 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;protein:increased expression:muccal mucosa: PMID:20580281|REF_RGD_ID:12910477 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9005106 Animal Toxoplasmosis ISO RGD:733896 D RGD:9068941 20200609 RGD PMID:8881756|REF_RGD_ID:12910478 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:17280490|REF_RGD_ID:1624229 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9005930 Endotoxemia ISO RGD:621314 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:medulla oblongata PMID:16675490|REF_RGD_ID:1624232 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9005930 Endotoxemia ISO RGD:733895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16741687 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:621314 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:12872233|REF_RGD_ID:1624250 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9007355 Hashimoto Disease ISO RGD:733895 D RGD:9068941 20200609 RGD protein:increased expression:throcyte: PMID:9161695|REF_RGD_ID:12910543 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9007692 Insulin Resistance ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:18948349|REF_RGD_ID:10402862 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9008217 Hemorrhage ISO RGD:621314 D RGD:9068941 20200609 RGD associated with Wounds and Injuries;mRNA, protein:decreased expression:heart PMID:16288780|REF_RGD_ID:1624234 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:733895 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:8255671|REF_RGD_ID:12910480 11727873 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9663 aphthous stomatitis ISO RGD:733895 D RGD:9068941 20200609 RGD protein:increased expression:muccal mucosa: PMID:20580281|REF_RGD_ID:12910477 11727899 SERGEF secretion regulating guanine nucleotide exchange factor gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1603222 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 11727899 SERGEF secretion regulating guanine nucleotide exchange factor gene DOID:1059 intellectual disability ISO RGD:1603222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11727899 SERGEF secretion regulating guanine nucleotide exchange factor gene DOID:1936 atherosclerosis ISO RGD:1603222 D RGD:9068941 20230128 RGD associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) PMID:33381146|REF_RGD_ID:155882464 11727899 SERGEF secretion regulating guanine nucleotide exchange factor gene DOID:630 genetic disease ISO RGD:1603222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11727933 AMY2B amylase alpha 2B gene DOID:12849 autistic disorder ISO RGD:1319648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11727933 AMY2B amylase alpha 2B gene DOID:1826 epilepsy ISO RGD:1319648 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11727933 AMY2B amylase alpha 2B gene DOID:630 genetic disease ISO RGD:1319648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11727952 FOXI3 forkhead box I3 gene DOID:14693 Clouston syndrome ISO RGD:12293264 D RGD:9068941 20210604 OMIA Ectodermal dysplasia PMID:15771734|PMID:15958791|PMID:18787161|PMID:23413772|PMID:23441037|PMID:27994129|PMID:28710361|PMID:3998444|PMID:8437436 11727952 FOXI3 forkhead box I3 gene DOID:2907 Goldenhar syndrome ISO RGD:2302532 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Goldenhar syndrome PMID:28492532 11727952 FOXI3 forkhead box I3 gene DOID:630 genetic disease ISO RGD:2302532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11727962 PGM5 phosphoglucomutase 5 gene DOID:630 genetic disease ISO RGD:1346061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11727962 PGM5 phosphoglucomutase 5 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1346061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11727972 NSUN7 NOP2/Sun RNA methyltransferase family member 7 gene DOID:12336 male infertility ISO RGD:1602865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17442852 11727972 NSUN7 NOP2/Sun RNA methyltransferase family member 7 gene DOID:630 genetic disease ISO RGD:1602865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11727972 NSUN7 NOP2/Sun RNA methyltransferase family member 7 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1602865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 11727993 RBP1 retinol binding protein 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:732391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25445212|PMID:28492532 11727993 RBP1 retinol binding protein 1 gene DOID:305 carcinoma ISO RGD:732391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11727993 RBP1 retinol binding protein 1 gene DOID:630 genetic disease ISO RGD:732391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11727993 RBP1 retinol binding protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:732391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16134180|PMID:16367923 11727993 RBP1 retinol binding protein 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:732391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11727993 RBP1 retinol binding protein 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:732391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28157488 11727993 RBP1 retinol binding protein 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3543 D RGD:9068941 20220331 RGD mRNA, protein:increased expression:mammary gland (rat) PMID:12376462|REF_RGD_ID:2292404 11727993 RBP1 retinol binding protein 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11727993 RBP1 retinol binding protein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 11728010 FAM178B family with sequence similarity 178 member B gene DOID:1059 intellectual disability ISO RGD:1605679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11728010 FAM178B family with sequence similarity 178 member B gene DOID:5419 schizophrenia ISO RGD:1605679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11728010 FAM178B family with sequence similarity 178 member B gene DOID:630 genetic disease ISO RGD:1605679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11728019 ZC3HC1 zinc finger C3HC-type containing 1 gene DOID:3393 coronary artery disease ISO RGD:1347342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 11728019 ZC3HC1 zinc finger C3HC-type containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11728019 ZC3HC1 zinc finger C3HC-type containing 1 gene DOID:630 genetic disease ISO RGD:1347342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11728019 ZC3HC1 zinc finger C3HC-type containing 1 gene DOID:9000528 Coronary Disease ISO RGD:1347342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 11728019 ZC3HC1 zinc finger C3HC-type containing 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 11728033 PMP22 peripheral myelin protein 22 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:69112 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1 PMID:10078969|PMID:10093067|PMID:10211478|PMID:10330345|PMID:10399754|PMID:10586280|PMID:10775544|PMID:10915775|PMID:10982389|PMID:11081809|PMID:11139264|PMID:11314784|PMID:11545686|PMID:11835375|PMID:11920834|PMID:12090404|PMID:12207933|PMID:12402337|PMID:12796555|PMID:12901701|PMID:1303230|PMID:1303281|PMID:14502374|PMID:15099590|PMID:15099592|PMID:15241803|PMID:15285778|PMID:15474367|PMID:1552943|PMID:15537650|PMID:1564512|PMID:16199547|PMID:16288874|PMID:16437560|PMID:1677316|PMID:17576681|PMID:1822787|PMID:18642376|PMID:18698610|PMID:18795802|PMID:19067730|PMID:19259128|PMID:19543269|PMID:19691535|PMID:20301384|PMID:20301566|PMID:20453308|PMID:20493460|PMID:20516806|PMID:20739940|PMID:20842290|PMID:21149811|PMID:21194947|PMID:21228398|PMID:21252112|PMID:21337347|PMID:21692910|PMID:21827951|PMID:21840889|PMID:21962505|PMID:22006697|PMID:22131320|PMID:22190321|PMID:23224996|PMID:23263778|PMID:23649551|PMID:23689413|PMID:23965407|PMID:24646194|PMID:25385046|PMID:25400662|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25640679|PMID:25741868|PMID:26012543|PMID:26102530|PMID:26392352|PMID:26454100|PMID:26467025|PMID:28286897|PMID:28333917|PMID:28374912|PMID:28382305|PMID:28492532|PMID:28600779|PMID:28660751|PMID:28748849|PMID:28981955|PMID:29127354|PMID:29653220|PMID:29896895|PMID:30675404|PMID:31211173|PMID:31393079|PMID:31664448|PMID:32376792|PMID:32412171|PMID:32513719|PMID:32719652|PMID:33131168|PMID:33933451|PMID:34332267|PMID:3467805|PMID:6313869|PMID:7139106|PMID:7649472|PMID:7728152|PMID:7829101|PMID:8012365|PMID:8252046|PMID:8275092|PMID:8492918|PMID:8510709|PMID:8777804|PMID:8894410|PMID:8988161|PMID:8995589|PMID:9004143|PMID:9040737|PMID:9040744|PMID:9055797|PMID:9187667|PMID:9324088|PMID:9371959|PMID:9425015|PMID:9452053|PMID:9452099|PMID:9536098|PMID:9544841|PMID:9585367|PMID:9678704|PMID:9712007|PMID:9748013|PMID:9888385 11728033 PMP22 peripheral myelin protein 22 gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:69112 D RGD:7240710 20180425 OMIM 11728033 PMP22 peripheral myelin protein 22 gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:69112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 3 | ClinVar Annotator: match by term: Dejerine-Sottas disease | ClinVar Annotator: match by term: Dejerine-Sottas syndrome, autosomal dominant PMID:10078969|PMID:10093067|PMID:10211478|PMID:10399754|PMID:10663978|PMID:10982389|PMID:11139264|PMID:11314784|PMID:12090401|PMID:12439896|PMID:12901701|PMID:15285778|PMID:15474367|PMID:1552943|PMID:15537650|PMID:15992829|PMID:18698610|PMID:18795802|PMID:21670407|PMID:21840889|PMID:25385046|PMID:25741868|PMID:26102530|PMID:26392352|PMID:28492532|PMID:32719652|PMID:3467805|PMID:7728152|PMID:7825607|PMID:8275092|PMID:8422677|PMID:8541860|PMID:8995589|PMID:9004143|PMID:9055797|PMID:9187667|PMID:9425015|PMID:9452053|PMID:9544841|PMID:9585367|PMID:9888385 11728033 PMP22 peripheral myelin protein 22 gene DOID:0060041 autism spectrum disorder ISO RGD:69112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:23044707|PMID:25741868|PMID:27569545 11728033 PMP22 peripheral myelin protein 22 gene DOID:0060843 hereditary neuropathy with liability to pressure palsies ISO RGD:69112 D RGD:7240710 20180130 OMIM 11728033 PMP22 peripheral myelin protein 22 gene DOID:0060843 hereditary neuropathy with liability to pressure palsies ISO RGD:69112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Neuropathy with Liability to Pressure Palsies | ClinVar Annotator: match by term: Hereditary liability to pressure palsies | ClinVar Annotator: match by term: Tomaculous neuropathy PMID:10078969|PMID:10211478|PMID:10586280|PMID:11081809|PMID:12439896|PMID:12796555|PMID:14502374|PMID:15205993|PMID:15474367|PMID:15537650|PMID:15955700|PMID:16288874|PMID:16437560|PMID:17620487|PMID:18698610|PMID:19067730|PMID:19691535|PMID:20301384|PMID:20842290|PMID:21149811|PMID:21194947|PMID:21228398|PMID:21252112|PMID:21670407|PMID:21692910|PMID:21962505|PMID:23965407|PMID:24239057|PMID:24646194|PMID:25400662|PMID:25741868|PMID:26012543|PMID:26102530|PMID:26392352|PMID:26467025|PMID:28333917|PMID:28374912|PMID:28492532|PMID:30675404|PMID:31664448|PMID:32513719|PMID:32719652|PMID:7649472|PMID:7825607|PMID:8012388|PMID:8252046|PMID:8422677|PMID:8541860|PMID:8894410|PMID:8988161|PMID:9040737|PMID:9371959|PMID:9452099|PMID:9678704|PMID:9712007 11728033 PMP22 peripheral myelin protein 22 gene DOID:0110148 Charcot-Marie-Tooth disease type 1A ISO RGD:69112 D RGD:7240710 20180130 OMIM 11728033 PMP22 peripheral myelin protein 22 gene DOID:0110148 Charcot-Marie-Tooth disease type 1A ISO RGD:69112 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1a, with focally folded myelin sheaths | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA | ClinVar Annotator: match by term: HMSN 1A PMID:10078969|PMID:10399754|PMID:10489052|PMID:10586280|PMID:10915775|PMID:11081809|PMID:11314784|PMID:11545686|PMID:11835375|PMID:12090404|PMID:12796555|PMID:1301995|PMID:1303281|PMID:1349106|PMID:14502374|PMID:15205993|PMID:15285778|PMID:15474367|PMID:1552536|PMID:1552545|PMID:15537650|PMID:1564512|PMID:15786462|PMID:16437560|PMID:1677316|PMID:1721895|PMID:17796454|PMID:1822787|PMID:18795802|PMID:19067730|PMID:19259128|PMID:19691535|PMID:20301384|PMID:20516806|PMID:20842290|PMID:21149811|PMID:21194947|PMID:21228398|PMID:21252112|PMID:21692910|PMID:21827951|PMID:21840889|PMID:21962505|PMID:22006697|PMID:23689413|PMID:23965407|PMID:24646194|PMID:25385046|PMID:25429913|PMID:25741868|PMID:26012543|PMID:26102530|PMID:26392352|PMID:26467025|PMID:27549087|PMID:28333917|PMID:28492532|PMID:29653220|PMID:30675404|PMID:31393079|PMID:31664448|PMID:32513719|PMID:32719652|PMID:475348|PMID:6313869|PMID:7649472|PMID:7728152|PMID:8105684|PMID:8252046|PMID:8275092|PMID:8492918|PMID:8500795|PMID:8510709|PMID:8988161|PMID:8995589|PMID:9004143|PMID:9040737|PMID:9324088|PMID:9371959|PMID:9425015|PMID:9452053|PMID:9452099|PMID:9543325|PMID:9585367|PMID:9712007|PMID:9888385 11728033 PMP22 peripheral myelin protein 22 gene DOID:0110153 Charcot-Marie-Tooth disease type 1E ISO RGD:69112 D RGD:7240710 20180919 OMIM 11728033 PMP22 peripheral myelin protein 22 gene DOID:0110153 Charcot-Marie-Tooth disease type 1E ISO RGD:69112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease and deafness | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1E PMID:10211478|PMID:10330345|PMID:11545686|PMID:11835375|PMID:11920834|PMID:12578939|PMID:12796555|PMID:15474367|PMID:19067730|PMID:20301384|PMID:20453308|PMID:23279344|PMID:25400662|PMID:25741868|PMID:26392352|PMID:26467025|PMID:28374912|PMID:28492532|PMID:28600779|PMID:32719652|PMID:34332267|PMID:7139106|PMID:7829101|PMID:8995589|PMID:9324088|PMID:9544841 11728033 PMP22 peripheral myelin protein 22 gene DOID:0110165 Charcot-Marie-Tooth disease type 2E ISO RGD:69112 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E PMID:20301384|PMID:21252112|PMID:21692910|PMID:25741868|PMID:26467025|PMID:28333917|PMID:28492532|PMID:9040737|PMID:9371959|PMID:9712007 11728033 PMP22 peripheral myelin protein 22 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:69112 D RGD:7240710 20180130 OMIM 11728033 PMP22 peripheral myelin protein 22 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:69112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:10078969|PMID:10093067|PMID:10211478|PMID:10586280|PMID:10632107|PMID:10737979|PMID:10775544|PMID:11081809|PMID:11140841|PMID:11369192|PMID:11545686|PMID:11835375|PMID:12402337|PMID:12497641|PMID:12578939|PMID:12796555|PMID:12901701|PMID:1301995|PMID:1349106|PMID:14502374|PMID:15099590|PMID:15099592|PMID:15241803|PMID:15474367|PMID:1552536|PMID:1552545|PMID:15537650|PMID:15786462|PMID:16199442|PMID:16437560|PMID:1677316|PMID:16922730|PMID:1721895|PMID:17576681|PMID:17620487|PMID:17707409|PMID:17796454|PMID:1822787|PMID:18380017|PMID:18642376|PMID:19067730|PMID:19259128|PMID:19691535|PMID:19830275|PMID:19909487|PMID:20301384|PMID:20453308|PMID:20516806|PMID:20842290|PMID:21149811|PMID:21194947|PMID:21228398|PMID:21252112|PMID:21337347|PMID:21692910|PMID:21962505|PMID:22006697|PMID:22131320|PMID:22382358|PMID:22730194|PMID:23224996|PMID:23263778|PMID:23279344|PMID:23313019|PMID:23965407|PMID:24239057|PMID:24646194|PMID:25192979|PMID:25400662|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25741868|PMID:26012543|PMID:26102530|PMID:26110377|PMID:26392352|PMID:26467025|PMID:28286897|PMID:28333917|PMID:28492532|PMID:28660751|PMID:28748849|PMID:29127354|PMID:29653220|PMID:29896895|PMID:30675404|PMID:31211173|PMID:31393079|PMID:31664448|PMID:32376792|PMID:32513719|PMID:32719652|PMID:33933451|PMID:34332267|PMID:3467805|PMID:475348|PMID:7649472|PMID:7728152|PMID:8012365|PMID:8012388|PMID:8105684|PMID:8252046|PMID:8500795|PMID:8615087|PMID:8777804|PMID:8988161|PMID:9040737|PMID:9040744|PMID:9187667|PMID:9324088|PMID:9371959|PMID:9452099|PMID:9536098|PMID:9543325|PMID:9585367|PMID:9712007|PMID:9748013 11728033 PMP22 peripheral myelin protein 22 gene DOID:11446 sciatic neuropathy ISO RGD:3359 D RGD:9068941 20200609 RGD PMID:1556154|REF_RGD_ID:1358785 11728033 PMP22 peripheral myelin protein 22 gene DOID:12377 spinal muscular atrophy ISO RGD:69112 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:25741868|PMID:26467025|PMID:28492532 11728033 PMP22 peripheral myelin protein 22 gene DOID:12835 quadriplegia ISO RGD:69112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12427913 11728033 PMP22 peripheral myelin protein 22 gene DOID:12842 Guillain-Barre syndrome ISO RGD:69112 D RGD:7240710 20180130 OMIM 11728033 PMP22 peripheral myelin protein 22 gene DOID:12842 Guillain-Barre syndrome ISO RGD:69112 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Guillain-Barre syndrome, familial PMID:12402337|PMID:25741868|PMID:26392352|PMID:26467025|PMID:28492532|PMID:28981955 11728033 PMP22 peripheral myelin protein 22 gene DOID:12849 autistic disorder ISO RGD:69112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11728033 PMP22 peripheral myelin protein 22 gene DOID:2477 motor peripheral neuropathy ISO RGD:69112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17701891 11728033 PMP22 peripheral myelin protein 22 gene DOID:3213 demyelinating disease ISO RGD:69112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20739560 11728033 PMP22 peripheral myelin protein 22 gene DOID:5419 schizophrenia ISO RGD:69112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11728033 PMP22 peripheral myelin protein 22 gene DOID:574 peripheral nervous system disease ISO RGD:69112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 11728033 PMP22 peripheral myelin protein 22 gene DOID:630 genetic disease ISO RGD:69112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10078969|PMID:10399754|PMID:10775544|PMID:11314784|PMID:12901701|PMID:15285778|PMID:17576681|PMID:20516806|PMID:21149811|PMID:21252112|PMID:21337347|PMID:21840889|PMID:23965407|PMID:25429913|PMID:25741868|PMID:26102530|PMID:26467025|PMID:28286897|PMID:28374912|PMID:28492532|PMID:28660751|PMID:28748849|PMID:28981955|PMID:29653220|PMID:31393079|PMID:32376792|PMID:32719652|PMID:3467805|PMID:7728152|PMID:8275092|PMID:9004143|PMID:9040744|PMID:9187667|PMID:9536098|PMID:9585367|PMID:9888385 11728033 PMP22 peripheral myelin protein 22 gene DOID:870 neuropathy ISO RGD:69112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 11728033 PMP22 peripheral myelin protein 22 gene DOID:9001745 Fasciculation ISO RGD:69112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tongue fasciculations PMID:25741868 11728033 PMP22 peripheral myelin protein 22 gene DOID:9003242 Paresthesia ISO RGD:69112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12427913 11728033 PMP22 peripheral myelin protein 22 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:69112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17275665 11728033 PMP22 peripheral myelin protein 22 gene DOID:9005219 Abnormal Reflexes ISO RGD:69112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12427913 11728033 PMP22 peripheral myelin protein 22 gene DOID:9005532 Muscle Weakness ISO RGD:69112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12427913 11728033 PMP22 peripheral myelin protein 22 gene DOID:9007428 Muscle Spasticity ISO RGD:69112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spasticity PMID:25741868 11728033 PMP22 peripheral myelin protein 22 gene DOID:9008086 Developmental Disabilities ISO RGD:69112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17275665 11728065 USP38 ubiquitin specific peptidase 38 gene DOID:630 genetic disease ISO RGD:1323709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11728079 DIRAS3 DIRAS family GTPase 3 gene DOID:1059 intellectual disability ISO RGD:1343615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11728079 DIRAS3 DIRAS family GTPase 3 gene DOID:630 genetic disease ISO RGD:1343615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11728079 DIRAS3 DIRAS family GTPase 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1343615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11728085 MYO9B myosin IXB gene DOID:10608 celiac disease ISO RGD:736717 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Celiac disease, susceptibility to, 4 PMID:15822038|PMID:16282976|PMID:25741868|PMID:28492532 11728085 MYO9B myosin IXB gene DOID:10608 celiac disease susceptibility ISO RGD:736717 D RGD:7240710 20200610 OMIM 11728085 MYO9B myosin IXB gene DOID:630 genetic disease ISO RGD:736717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11728085 MYO9B myosin IXB gene DOID:9005539 Familial Prostate Cancer ISO RGD:736717 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11728111 CARMIL2 capping protein regulator and myosin 1 linker 2 gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:1605284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 11728111 CARMIL2 capping protein regulator and myosin 1 linker 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11728111 CARMIL2 capping protein regulator and myosin 1 linker 2 gene DOID:0111962 combined immunodeficiency ISO RGD:1605284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:25741868|PMID:28112205 11728111 CARMIL2 capping protein regulator and myosin 1 linker 2 gene DOID:0111984 immunodeficiency 58 ISO RGD:1605284 D RGD:7240710 20190315 OMIM 11728111 CARMIL2 capping protein regulator and myosin 1 linker 2 gene DOID:0111984 immunodeficiency 58 ISO RGD:1605284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARMIL2 deficiency PMID:16199547|PMID:25741868|PMID:27647349|PMID:27896283|PMID:28112205|PMID:28492532|PMID:29479355 11728111 CARMIL2 capping protein regulator and myosin 1 linker 2 gene DOID:628 combined T cell and B cell immunodeficiency ISO RGD:1605284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined T and B cell immunodeficiency PMID:25741868 11728111 CARMIL2 capping protein regulator and myosin 1 linker 2 gene DOID:630 genetic disease ISO RGD:1605284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11728151 OPRD1 opioid receptor delta 1 gene DOID:0060001 withdrawal disorder ISO RGD:731961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2415332 11728151 OPRD1 opioid receptor delta 1 gene DOID:1826 epilepsy ISO RGD:731961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2415332 11728151 OPRD1 opioid receptor delta 1 gene DOID:303 substance-related disorder ISO RGD:731961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17622222|PMID:20098672 11728151 OPRD1 opioid receptor delta 1 gene DOID:5844 myocardial infarction ISO RGD:3233 D RGD:9068941 20200609 RGD PMID:12798419|PMID:15076225|REF_RGD_ID:2316587|REF_RGD_ID:9831425 11728151 OPRD1 opioid receptor delta 1 gene DOID:630 genetic disease ISO RGD:731961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11728151 OPRD1 opioid receptor delta 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:3233 D RGD:9068941 20200609 RGD PMID:10900218|REF_RGD_ID:2316592 11728151 OPRD1 opioid receptor delta 1 gene DOID:9000641 Pain ISO RGD:3233 D RGD:9068941 20200609 RGD PMID:12710986|REF_RGD_ID:2316589 11728151 OPRD1 opioid receptor delta 1 gene DOID:9002916 Hyperphagia ISO RGD:3233 D RGD:9068941 20200609 RGD PMID:9808678|REF_RGD_ID:9831410 11728151 OPRD1 opioid receptor delta 1 gene DOID:9005950 Orthostatic Hypotension ISO RGD:731961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2981652 11728151 OPRD1 opioid receptor delta 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3233 D RGD:9068941 20200609 RGD PMID:12136724|REF_RGD_ID:2316590 11728158 PRDM9 PR/SET domain 9 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1349245 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 11728158 PRDM9 PR/SET domain 9 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1349245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 11728158 PRDM9 PR/SET domain 9 gene DOID:630 genetic disease ISO RGD:1349245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11728158 PRDM9 PR/SET domain 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11728171 KLHL15 kelch like family member 15 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11728171 KLHL15 kelch like family member 15 gene DOID:0112020 non-syndromic X-linked intellectual disability 103 ISO RGD:1351915 D RGD:7240710 20190315 OMIM 11728171 KLHL15 kelch like family member 15 gene DOID:0112020 non-syndromic X-linked intellectual disability 103 ISO RGD:1351915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 103 PMID:24817631|PMID:25644381|PMID:25741868 11728171 KLHL15 kelch like family member 15 gene DOID:12849 autistic disorder ISO RGD:1351915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11728171 KLHL15 kelch like family member 15 gene DOID:630 genetic disease ISO RGD:1351915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11728171 KLHL15 kelch like family member 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11728182 IGDCC4 immunoglobulin superfamily DCC subclass member 4 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1602692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11728182 IGDCC4 immunoglobulin superfamily DCC subclass member 4 gene DOID:2717 Bloom syndrome ISO RGD:1602692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11728182 IGDCC4 immunoglobulin superfamily DCC subclass member 4 gene DOID:630 genetic disease ISO RGD:1602692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11728182 IGDCC4 immunoglobulin superfamily DCC subclass member 4 gene DOID:9256 colorectal cancer ISO RGD:1602692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11728228 AURKAIP1 aurora kinase A interacting protein 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1606265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11728228 AURKAIP1 aurora kinase A interacting protein 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606265 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11728228 AURKAIP1 aurora kinase A interacting protein 1 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1606265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11728228 AURKAIP1 aurora kinase A interacting protein 1 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1606265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11728228 AURKAIP1 aurora kinase A interacting protein 1 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1606265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11728228 AURKAIP1 aurora kinase A interacting protein 1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1606265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11728228 AURKAIP1 aurora kinase A interacting protein 1 gene DOID:0111934 immunodeficiency 38 ISO RGD:1606265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11728228 AURKAIP1 aurora kinase A interacting protein 1 gene DOID:0111935 immunodeficiency 16 ISO RGD:1606265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11728228 AURKAIP1 aurora kinase A interacting protein 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1606265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11728228 AURKAIP1 aurora kinase A interacting protein 1 gene DOID:630 genetic disease ISO RGD:1606265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11728228 AURKAIP1 aurora kinase A interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11728228 AURKAIP1 aurora kinase A interacting protein 1 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1606265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11728228 AURKAIP1 aurora kinase A interacting protein 1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1606265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11728269 VPS26A VPS26 retromer complex component A gene DOID:630 genetic disease ISO RGD:1343417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11728269 VPS26A VPS26 retromer complex component A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343417 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21874001 11728286 TMEM174 transmembrane protein 174 gene DOID:630 genetic disease ISO RGD:1606156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11728286 TMEM174 transmembrane protein 174 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11728306 CD46 CD46 molecule gene DOID:0050589 inflammatory bowel disease ISO RGD:1346662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 11728306 CD46 CD46 molecule gene DOID:0080097 myofibrillar myopathy 6 ISO RGD:1346662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 6 PMID:25741868|PMID:28492532 11728306 CD46 CD46 molecule gene DOID:0080176 meningococcal meningitis ISO RGD:1346662 D RGD:9068941 20200609 RGD PMID:12869763|REF_RGD_ID:6483466 11728306 CD46 CD46 molecule gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1346662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 PMID:10528197|PMID:14566051|PMID:14615110|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17089378|PMID:20059470|PMID:20513133|PMID:21706448|PMID:23431077|PMID:23731345|PMID:23780777|PMID:24033266|PMID:24161037|PMID:24247905|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:29500241|PMID:29566171|PMID:30609409|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389 11728306 CD46 CD46 molecule gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1346662 D RGD:8554872 20220621 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 PMID:14566051|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17089378|PMID:20059470|PMID:20513133|PMID:21706448|PMID:23431077|PMID:23731345|PMID:23780777|PMID:24033266|PMID:24161037|PMID:24247905|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28752844|PMID:29500241|PMID:29566171|PMID:30305631|PMID:30609409|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389 11728306 CD46 CD46 molecule gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1346662 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 PMID:11414356|PMID:14566051|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17089378|PMID:19376828|PMID:20059470|PMID:20513133|PMID:21706448|PMID:23431077|PMID:23731345|PMID:23780777|PMID:24005975|PMID:24033266|PMID:24161037|PMID:24247905|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28752844|PMID:29500241|PMID:29566171|PMID:30305631|PMID:30609409|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389 11728306 CD46 CD46 molecule gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1346662 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 PMID:14566051|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17089378|PMID:20059470|PMID:20513133|PMID:21706448|PMID:23431077|PMID:23519521|PMID:23731345|PMID:23780777|PMID:24033266|PMID:24161037|PMID:24247905|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28752844|PMID:29500241|PMID:29566171|PMID:30046676|PMID:30305631|PMID:30609409|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389 11728306 CD46 CD46 molecule gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1346662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 PMID:14566051|PMID:16199547|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17089378|PMID:19376828|PMID:20059470|PMID:20513133|PMID:21706448|PMID:21810760|PMID:23314101|PMID:23431077|PMID:23519521|PMID:23731345|PMID:23780777|PMID:24005975|PMID:24029428|PMID:24033266|PMID:24161037|PMID:24247905|PMID:2431077|PMID:24460647|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28752844|PMID:29500241|PMID:29566171|PMID:29644059|PMID:30046676|PMID:30305631|PMID:30609409|PMID:30676336|PMID:33213850|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389 11728306 CD46 CD46 molecule gene DOID:0080301 atypical hemolytic-uremic syndrome severity ISO RGD:1346662 D RGD:9068941 20200609 RGD DNA:mutations:cds:multiple (human) PMID:20595690|REF_RGD_ID:11038684 11728306 CD46 CD46 molecule gene DOID:0080301 atypical hemolytic-uremic syndrome susceptibility ISO RGD:1346662 D RGD:7240710 20190502 OMIM 11728306 CD46 CD46 molecule gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1346662 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30185663 11728306 CD46 CD46 molecule gene DOID:0080998 acute necrotizing pancreatitis severity ISO RGD:3061 D RGD:9068941 20200609 RGD PMID:16425382|REF_RGD_ID:1600479 11728306 CD46 CD46 molecule gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1346662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 11728306 CD46 CD46 molecule gene DOID:10591 pre-eclampsia no_association ISO RGD:1346662 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.A304V (human) PMID:25710174|REF_RGD_ID:11352807 11728306 CD46 CD46 molecule gene DOID:10591 pre-eclampsia susceptibility ISO RGD:1346662 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.A304V (human) PMID:21445332|REF_RGD_ID:6483459 11728306 CD46 CD46 molecule gene DOID:10871 age related macular degeneration ISO RGD:736683 D RGD:9068941 20220825 MouseDO 11728306 CD46 CD46 molecule gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1346662 D RGD:9068941 20200609 RGD DNA:frameshift mutation:cds:p.N233X3 (human) PMID:14615110|REF_RGD_ID:11352767 11728306 CD46 CD46 molecule gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1346662 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:16189652|REF_RGD_ID:11531138 11728306 CD46 CD46 molecule gene DOID:12554 hemolytic-uremic syndrome susceptibility ISO RGD:1346662 D RGD:9068941 20200609 RGD DNA:deletion, missense mutation:cds:p.D237_S238del, p.S206P (human) PMID:14566051|REF_RGD_ID:11352770 11728306 CD46 CD46 molecule gene DOID:12849 autistic disorder ISO RGD:1346662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11728306 CD46 CD46 molecule gene DOID:1540 parathyroid carcinoma ISO RGD:1346662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11728306 CD46 CD46 molecule gene DOID:2377 multiple sclerosis ISO RGD:1346662 D RGD:9068941 20200609 RGD PMID:21177319|REF_RGD_ID:6483460 11728306 CD46 CD46 molecule gene DOID:2452 thrombophilia ISO RGD:1346662 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:placenta (human) PMID:23042280|REF_RGD_ID:11352772 11728306 CD46 CD46 molecule gene DOID:2773 contact dermatitis ISO RGD:1346662 D RGD:9068941 20200609 RGD PMID:12055630|REF_RGD_ID:6483467 11728306 CD46 CD46 molecule gene DOID:3459 breast carcinoma ISO RGD:1346662 D RGD:9068941 20200609 RGD protein:increased expression:very strong diffuse staining on carcinomas PMID:7532466|REF_RGD_ID:2293551 11728306 CD46 CD46 molecule gene DOID:3459 breast carcinoma disease_progression ISO RGD:1346662 D RGD:9068941 20200609 RGD protein:increased expression:tumor:significant association with tumor grade (p < 0.05), type (p < 0.001) and incidence of recurrence (p < 0.05) PMID:15378282|REF_RGD_ID:2293547 11728306 CD46 CD46 molecule gene DOID:4450 renal cell carcinoma ISO RGD:1346662 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:expression associated with presence of complement C3d on tumor cells (p<0.02) and with tumor stage (p<0.04) PMID:10744069|REF_RGD_ID:2293550 11728306 CD46 CD46 molecule gene DOID:557 kidney disease ISO RGD:1346662 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 11728306 CD46 CD46 molecule gene DOID:589 congenital hemolytic anemia ISO RGD:1346662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868 11728306 CD46 CD46 molecule gene DOID:630 genetic disease ISO RGD:1346662 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11728306 CD46 CD46 molecule gene DOID:8622 measles ISO RGD:1346662 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8402913 11728306 CD46 CD46 molecule gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1346662 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:9358772|REF_RGD_ID:2293549 11728306 CD46 CD46 molecule gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:1346662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombotic microangiopathy PMID:16199547|PMID:16621965|PMID:16762990|PMID:23431077|PMID:23519521|PMID:25741868|PMID:26559391|PMID:28492532|PMID:28752844|PMID:30046676|PMID:30676336 11728306 CD46 CD46 molecule gene DOID:9002457 Experimental Arthritis ISO RGD:1346662 D RGD:9068941 20200609 RGD PMID:21852528|REF_RGD_ID:6483461 11728306 CD46 CD46 molecule gene DOID:9002762 Ovarian Neoplasms ISO RGD:1346662 D RGD:9068941 20200609 RGD PMID:12183422|PMID:15726105|REF_RGD_ID:2306066|REF_RGD_ID:2306067 11728306 CD46 CD46 molecule gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1346662 D RGD:9068941 20200609 RGD PMID:17214367|REF_RGD_ID:2306065 11728306 CD46 CD46 molecule gene DOID:9002834 Herpesviridae Infections ISO RGD:1346662 D RGD:9068941 20200609 RGD associated with Multiple Sclerosis PMID:19456309|REF_RGD_ID:6483463 11728306 CD46 CD46 molecule gene DOID:9002884 Emphysema ISO RGD:1346662 D RGD:9068941 20200609 RGD PMID:21573156|REF_RGD_ID:6483458 11728306 CD46 CD46 molecule gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1346662 D RGD:9068941 20200609 RGD protein:increased expression, altered expression pattern:tumor:intense uniform staining of tumor cells vs heterogeneous staining of normal tissue and premalignant lesions PMID:9358772|REF_RGD_ID:2293549 11728306 CD46 CD46 molecule gene DOID:9003505 Venous Thromboembolism severity ISO RGD:1346662 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:25684211|REF_RGD_ID:11352815 11728306 CD46 CD46 molecule gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1346662 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11728306 CD46 CD46 molecule gene DOID:9007715 Endometrial Neoplasms ISO RGD:1346662 D RGD:9068941 20200609 RGD protein:increased expression:tumor:versus benign endometrium (p<0.0001) PMID:10637067|REF_RGD_ID:2293548 11728306 CD46 CD46 molecule gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1346662 D RGD:9068941 20200609 RGD mRNA:increased expression:leukocyte (human) PMID:22247341|REF_RGD_ID:6483457 11728306 CD46 CD46 molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11728306 CD46 CD46 molecule gene DOID:934 viral infectious disease ISO RGD:1346662 D RGD:9068941 20200609 RGD protein:increased expression:monocyte (human) PMID:23376460|REF_RGD_ID:11352813 11728306 CD46 CD46 molecule gene DOID:9470 bacterial meningitis ISO RGD:1346662 D RGD:9068941 20200609 RGD PMID:16948860|REF_RGD_ID:6483465 11728306 CD46 CD46 molecule gene DOID:9538 multiple myeloma ISO RGD:1346662 D RGD:9068941 20200609 RGD protein:increased expression:plasma cell (human) PMID:16728275|REF_RGD_ID:11352814 11728306 CD46 CD46 molecule gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1346662 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood mononuclear cell (human) PMID:16353080|REF_RGD_ID:11352810 11728335 ZNF331 zinc finger protein 331 gene DOID:37 skin disease ISO RGD:1344097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11728335 ZNF331 zinc finger protein 331 gene DOID:630 genetic disease ISO RGD:1344097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11728335 ZNF331 zinc finger protein 331 gene DOID:9007964 Arsenic Poisoning ISO RGD:1344097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11728379 DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1603338 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11728379 DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 gene DOID:0110610 primary ciliary dyskinesia 34 ISO RGD:1603338 D RGD:7240710 20190315 OMIM 11728379 DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 gene DOID:0110610 primary ciliary dyskinesia 34 ISO RGD:1603338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 34 PMID:25741868|PMID:27486783|PMID:28492532 11728379 DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 gene DOID:1059 intellectual disability ISO RGD:1603338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11728379 DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 gene DOID:630 genetic disease ISO RGD:1603338 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11728379 DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 gene DOID:9007073 Cough ISO RGD:1603338 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cough PMID:25741868|PMID:28492532 11728379 DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1603338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 11728391 TSC1 TSC complex subunit 1 gene DOID:0050562 West syndrome ISO RGD:736947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18345974 11728391 TSC1 TSC complex subunit 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:21309039|PMID:22161988|PMID:22558107|PMID:22703879|PMID:23514105|PMID:23857276|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532 11728391 TSC1 TSC complex subunit 1 gene DOID:0060564 spinal disease ISO RGD:733994 D RGD:9068941 20220825 MouseDO 11728391 TSC1 TSC complex subunit 1 gene DOID:0060648 anterior segment dysgenesis ISO RGD:733994 D RGD:9068941 20220825 MouseDO 11728391 TSC1 TSC complex subunit 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:736947 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy 11728391 TSC1 TSC complex subunit 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:736947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11728391 TSC1 TSC complex subunit 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:736947 D RGD:7240710 20180130 OMIM 11728391 TSC1 TSC complex subunit 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:736947 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:10090883|PMID:10205261|PMID:10227394|PMID:10330349|PMID:10340649|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10533069|PMID:10570911|PMID:10607950|PMID:10874311|PMID:10942116|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11281455|PMID:11329144|PMID:11774213|PMID:12015165|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14597398|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15121797|PMID:15236319|PMID:15595939|PMID:15769473|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16225402|PMID:16554133|PMID:16981987|PMID:17287951|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18830229|PMID:18854862|PMID:19139070|PMID:19175396|PMID:19254590|PMID:19419980|PMID:19747374|PMID:19763152|PMID:19918125|PMID:20082901|PMID:20165957|PMID:20185476|PMID:20307669|PMID:20399389|PMID:20547222|PMID:20633017|PMID:20877415|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22406018|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22791573|PMID:22867869|PMID:22903760|PMID:22923433|PMID:22974335|PMID:22995991|PMID:23254740|PMID:23341583|PMID:23389244|PMID:23401075|PMID:23514105|PMID:23647917|PMID:23728315|PMID:23857276|PMID:23999528|PMID:24033266|PMID:24271014|PMID:24633152|PMID:24714658|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25117416|PMID:25326635|PMID:25401301|PMID:25498131|PMID:25525159|PMID:25640679|PMID:25722345|PMID:25741868|PMID:25782670|PMID:25889454|PMID:25900779|PMID:25927202|PMID:26226092|PMID:26231267|PMID:26332594|PMID:26467025|PMID:26493680|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26615199|PMID:26786560|PMID:26934580|PMID:27061015|PMID:27153395|PMID:27174333|PMID:27229674|PMID:27406250|PMID:27425891|PMID:27470532|PMID:27494029|PMID:27600092|PMID:27854218|PMID:27859028|PMID:28065512|PMID:28087349|PMID:28215400|PMID:28250423|PMID:28288225|PMID:28492532|PMID:28614114|PMID:28623545|PMID:28968464|PMID:29045506|PMID:29052576|PMID:29101226|PMID:29127155|PMID:29196670|PMID:29221145|PMID:29261847|PMID:29286531|PMID:29344138|PMID:29432982|PMID:29458892|PMID:29476190|PMID:29619247|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29706646|PMID:29740858|PMID:29932062|PMID:29960980|PMID:30093976|PMID:30182498|PMID:30548481|PMID:30794603|PMID:30842500|PMID:31484976|PMID:31525612|PMID:31586081|PMID:31664448|PMID:31832524|PMID:31855466|PMID:31856217|PMID:31911633|PMID:32005694|PMID:32091409|PMID:32203225|PMID:32211034|PMID:32238909|PMID:32313033|PMID:32368696|PMID:32461669|PMID:32555378|PMID:32655475|PMID:32917966|PMID:33181865|PMID:33532864|PMID:34008892|PMID:34799483|PMID:35918040|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605 11728391 TSC1 TSC complex subunit 1 gene DOID:0080324 tuberous sclerosis 1 treatment ISO RGD:736947 D RGD:9068941 20200609 RGD PMID:26019056|REF_RGD_ID:11570507 11728391 TSC1 TSC complex subunit 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:736947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11728391 TSC1 TSC complex subunit 1 gene DOID:0081097 Rafiq syndrome ISO RGD:736947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11728391 TSC1 TSC complex subunit 1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:736947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cortical dysplasia PMID:10227394|PMID:10570911|PMID:15798777|PMID:17304050|PMID:23341583|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28968464 11728391 TSC1 TSC complex subunit 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:733994 D RGD:9068941 20220825 MouseDO OMIM:263200 11728391 TSC1 TSC complex subunit 1 gene DOID:10126 keratoconus ISO RGD:736947 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratoconus 11728391 TSC1 TSC complex subunit 1 gene DOID:1059 intellectual disability ISO RGD:736947 D RGD:9068941 20200609 RGD associated with Tuberous Sclerosis;DNA:frameshift mutations PMID:26408672|REF_RGD_ID:11535605 11728391 TSC1 TSC complex subunit 1 gene DOID:1074 kidney failure ISO RGD:736947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal failure PMID:10227394|PMID:10570911|PMID:15798777|PMID:17304050|PMID:23341583|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28968464 11728391 TSC1 TSC complex subunit 1 gene DOID:11054 urinary bladder cancer ISO RGD:736947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder | ClinVar Annotator: match by term: Urinary bladder cancer PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10607950|PMID:10874311|PMID:11112665|PMID:11208653|PMID:11329144|PMID:12111193|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16981987|PMID:17304050|PMID:18032745|PMID:18397877|PMID:18772611|PMID:18830229|PMID:19139070|PMID:20547222|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21811971|PMID:22490766|PMID:22703879|PMID:22707517|PMID:22923433|PMID:23254740|PMID:23401075|PMID:24033266|PMID:24633152|PMID:24728327|PMID:25525159|PMID:25741868|PMID:25889454|PMID:25900779|PMID:26231267|PMID:26332594|PMID:26467025|PMID:27061015|PMID:27425891|PMID:27494029|PMID:28087349|PMID:28492532|PMID:29221145|PMID:29655203|PMID:29932062|PMID:32211034|PMID:9242607|PMID:9328481|PMID:9803264|PMID:9863590|PMID:9924605 11728391 TSC1 TSC complex subunit 1 gene DOID:12849 autistic disorder ISO RGD:736947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18067135 11728391 TSC1 TSC complex subunit 1 gene DOID:13515 tuberous sclerosis ISO RGD:736947 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cortical tubers | ClinVar Annotator: match by term: Tuberous sclerosis syndrome PMID:10090883|PMID:10205261|PMID:10227394|PMID:10330349|PMID:10340649|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10533069|PMID:10570911|PMID:10607950|PMID:10874311|PMID:11112665|PMID:11208653|PMID:11329144|PMID:11774213|PMID:12015165|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15121797|PMID:15236319|PMID:15595939|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16554133|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18830229|PMID:18854862|PMID:19139070|PMID:19175396|PMID:19254590|PMID:19419980|PMID:19747374|PMID:19918125|PMID:20165957|PMID:20185476|PMID:20399389|PMID:20498439|PMID:20547222|PMID:20633017|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22791573|PMID:22867869|PMID:22903760|PMID:22923433|PMID:22995991|PMID:23254740|PMID:23341583|PMID:23389244|PMID:23401075|PMID:23514105|PMID:23728315|PMID:23857276|PMID:24033266|PMID:24633152|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25117416|PMID:25326635|PMID:25498131|PMID:25525159|PMID:25722345|PMID:25741868|PMID:25900779|PMID:26231267|PMID:26332594|PMID:26467025|PMID:26493680|PMID:26540169|PMID:26580448|PMID:27061015|PMID:27153395|PMID:27425891|PMID:27470532|PMID:27494029|PMID:27600092|PMID:27854218|PMID:27859028|PMID:28065512|PMID:28087349|PMID:28215400|PMID:28291513|PMID:28492532|PMID:28614114|PMID:28968464|PMID:29101226|PMID:29127155|PMID:29196670|PMID:29221145|PMID:29261847|PMID:29286531|PMID:29432982|PMID:29458892|PMID:29655203|PMID:29706646|PMID:29740858|PMID:29932062|PMID:29960980|PMID:30548481|PMID:30581017|PMID:31525612|PMID:31664448|PMID:31855466|PMID:32211034|PMID:32238909|PMID:32313033|PMID:32461669|PMID:32555378|PMID:34799483|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605 11728391 TSC1 TSC complex subunit 1 gene DOID:13515 tuberous sclerosis susceptibility ISO RGD:736947 D RGD:9068941 20200609 RGD DNA:nonsense mutations, deletion: :multiple PMID:9242607|REF_RGD_ID:1624196 11728391 TSC1 TSC complex subunit 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11728391 TSC1 TSC complex subunit 1 gene DOID:1561 cognitive disorder ISO RGD:736947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18067135 11728391 TSC1 TSC complex subunit 1 gene DOID:1612 breast cancer ISO RGD:736947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10353610|PMID:10363127|PMID:10533067|PMID:10570911|PMID:10607950|PMID:11208653|PMID:12111193|PMID:14633685|PMID:16114042|PMID:16981987|PMID:17304050|PMID:18772611|PMID:21510812|PMID:21811971|PMID:22703879|PMID:23254740|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9328481|PMID:9803264|PMID:9863590|PMID:9924605 11728391 TSC1 TSC complex subunit 1 gene DOID:1612 breast cancer disease_progression ISO RGD:736947 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast PMID:15951164|REF_RGD_ID:11568707 11728391 TSC1 TSC complex subunit 1 gene DOID:1749 squamous cell carcinoma ISO RGD:736947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18538015 11728391 TSC1 TSC complex subunit 1 gene DOID:1826 epilepsy ISO RGD:736947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:10227394|PMID:10363127|PMID:10533067|PMID:11112665|PMID:12015165|PMID:14756965|PMID:15798777|PMID:16981987|PMID:17304050|PMID:18032745|PMID:21520333|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29286531|PMID:32211034|PMID:32238909|PMID:9242607|PMID:9328481|PMID:9803264|PMID:9863590|PMID:9924605 11728391 TSC1 TSC complex subunit 1 gene DOID:2394 ovarian cancer ISO RGD:736947 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:28492532|PMID:32211034 11728391 TSC1 TSC complex subunit 1 gene DOID:3070 high grade glioma ISO RGD:736947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:25741868 11728391 TSC1 TSC complex subunit 1 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:736947 D RGD:7240710 20180130 OMIM 11728391 TSC1 TSC complex subunit 1 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:736947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lymphangiomyomatosis PMID:10090883|PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10533069|PMID:10570911|PMID:10607950|PMID:10874311|PMID:11112665|PMID:11208653|PMID:11329144|PMID:11829138|PMID:12015165|PMID:12111193|PMID:12773163|PMID:12853839|PMID:14633685|PMID:14756965|PMID:15798777|PMID:16114042|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18772611|PMID:18830229|PMID:19419980|PMID:19747374|PMID:20399389|PMID:20547222|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22903760|PMID:22923433|PMID:23254740|PMID:23401075|PMID:23514105|PMID:24033266|PMID:24633152|PMID:24728327|PMID:25525159|PMID:25722345|PMID:25741868|PMID:25900779|PMID:26231267|PMID:26467025|PMID:26540169|PMID:26580448|PMID:27061015|PMID:27425891|PMID:27494029|PMID:28087349|PMID:28492532|PMID:28614114|PMID:29221145|PMID:29286531|PMID:29619247|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29932062|PMID:29960980|PMID:30842500|PMID:5279523|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605 11728391 TSC1 TSC complex subunit 1 gene DOID:3652 Leigh disease ISO RGD:736947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11728391 TSC1 TSC complex subunit 1 gene DOID:3840 craniopharyngioma ISO RGD:736947 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Craniopharyngioma PMID:22161988|PMID:25741868|PMID:28492532|PMID:29684080 11728391 TSC1 TSC complex subunit 1 gene DOID:4450 renal cell carcinoma ISO RGD:736947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 11728391 TSC1 TSC complex subunit 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736947 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:16909113|REF_RGD_ID:11570509 11728391 TSC1 TSC complex subunit 1 gene DOID:4905 pancreatic carcinoma ISO RGD:733994 D RGD:9068941 20200609 RGD PMID:25425965|REF_RGD_ID:11570510 11728391 TSC1 TSC complex subunit 1 gene DOID:630 genetic disease ISO RGD:736947 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11728391 TSC1 TSC complex subunit 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499249 11728391 TSC1 TSC complex subunit 1 gene DOID:769 neuroblastoma ISO RGD:736947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:25741868 11728391 TSC1 TSC complex subunit 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:736947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17484760 11728391 TSC1 TSC complex subunit 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:733994 D RGD:9068941 20200609 RGD PMID:11438694|REF_RGD_ID:11570508 11728391 TSC1 TSC complex subunit 1 gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:736947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primitive neuroectodermal tumor PMID:16554133|PMID:21309039|PMID:22703879|PMID:25077650|PMID:25741868|PMID:27153395|PMID:28492532 11728391 TSC1 TSC complex subunit 1 gene DOID:9005172 Lung Neoplasms ISO RGD:733994 D RGD:9068941 20200609 RGD PMID:19966866|REF_RGD_ID:11568678 11728391 TSC1 TSC complex subunit 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736947 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10607950|PMID:11112665|PMID:11208653|PMID:11329144|PMID:11774213|PMID:12015165|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15121797|PMID:15798777|PMID:16114042|PMID:16554133|PMID:16981987|PMID:17304050|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18830229|PMID:19139070|PMID:19175396|PMID:19254590|PMID:19747374|PMID:19918125|PMID:20165957|PMID:20547222|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22791573|PMID:22903760|PMID:22974335|PMID:22995991|PMID:23254740|PMID:23341583|PMID:23389244|PMID:23514105|PMID:23857276|PMID:24033266|PMID:24633152|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25498131|PMID:25525159|PMID:25741868|PMID:25900779|PMID:26226092|PMID:26332594|PMID:26467025|PMID:26563443|PMID:26580448|PMID:26786560|PMID:27153395|PMID:27425891|PMID:27470532|PMID:27600092|PMID:28065512|PMID:28087349|PMID:28215400|PMID:28250423|PMID:28492532|PMID:28968464|PMID:29261847|PMID:29458892|PMID:29706646|PMID:29740858|PMID:30093976|PMID:31856217|PMID:32211034|PMID:32238909|PMID:32917966|PMID:9242607|PMID:9328481|PMID:9803264|PMID:9863590|PMID:9924605 11728391 TSC1 TSC complex subunit 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736947 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10607950|PMID:10874311|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11329144|PMID:11774213|PMID:12015165|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15121797|PMID:15769473|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16554133|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18830229|PMID:19139070|PMID:19175396|PMID:19254590|PMID:19747374|PMID:19918125|PMID:20165957|PMID:20547222|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22791573|PMID:22903760|PMID:22923433|PMID:22974335|PMID:22995991|PMID:23254740|PMID:23341583|PMID:23389244|PMID:23401075|PMID:23514105|PMID:23728315|PMID:23857276|PMID:24033266|PMID:24633152|PMID:24714658|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25401301|PMID:25498131|PMID:25525159|PMID:25741868|PMID:25900779|PMID:26226092|PMID:26231267|PMID:26332594|PMID:26467025|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26615199|PMID:26786560|PMID:26934580|PMID:27061015|PMID:27153395|PMID:27229674|PMID:27425891|PMID:27470532|PMID:27494029|PMID:27600092|PMID:28065512|PMID:28087349|PMID:28215400|PMID:28250423|PMID:28492532|PMID:28614114|PMID:28968464|PMID:29221145|PMID:29261847|PMID:29344138|PMID:29458892|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29706646|PMID:29740858|PMID:29932062|PMID:29960980|PMID:30093976|PMID:30548481|PMID:30842500|PMID:31484976|PMID:31586081|PMID:31832524|PMID:31856217|PMID:31911633|PMID:32091409|PMID:32211034|PMID:32238909|PMID:32461669|PMID:32917966|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605 11728391 TSC1 TSC complex subunit 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736947 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10607950|PMID:10874311|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11329144|PMID:11774213|PMID:12015165|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15121797|PMID:15769473|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16554133|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18830229|PMID:19139070|PMID:19175396|PMID:19254590|PMID:19747374|PMID:19918125|PMID:20165957|PMID:20547222|PMID:20633017|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22791573|PMID:22923433|PMID:22974335|PMID:22995991|PMID:23254740|PMID:23341583|PMID:23389244|PMID:23401075|PMID:23514105|PMID:23728315|PMID:23857276|PMID:23999528|PMID:24033266|PMID:24633152|PMID:24714658|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25401301|PMID:25498131|PMID:25525159|PMID:25722345|PMID:25741868|PMID:25900779|PMID:26226092|PMID:26231267|PMID:26332594|PMID:26467025|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26615199|PMID:26786560|PMID:26934580|PMID:27061015|PMID:27153395|PMID:27229674|PMID:27425891|PMID:27470532|PMID:27494029|PMID:27600092|PMID:27854218|PMID:28065512|PMID:28087349|PMID:28215400|PMID:28250423|PMID:28288225|PMID:28492532|PMID:28614114|PMID:28968464|PMID:29221145|PMID:29261847|PMID:29344138|PMID:29458892|PMID:29619247|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29706646|PMID:29740858|PMID:29932062|PMID:29960980|PMID:30093976|PMID:30548481|PMID:30842500|PMID:31484976|PMID:31525612|PMID:31586081|PMID:31664448|PMID:31832524|PMID:31856217|PMID:31911633|PMID:32091409|PMID:32211034|PMID:32238909|PMID:32313033|PMID:32461669|PMID:32917966|PMID:34799483|PMID:35918040|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605 11728391 TSC1 TSC complex subunit 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:736947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18538015 11728391 TSC1 TSC complex subunit 1 gene DOID:9007692 Insulin Resistance ISO RGD:733994 D RGD:9068941 20200609 RGD PMID:15380067|REF_RGD_ID:1624197 11728391 TSC1 TSC complex subunit 1 gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:736947 D RGD:7240710 20180130 OMIM 11728391 TSC1 TSC complex subunit 1 gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:736947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cortical dysplasia of Taylor | ClinVar Annotator: match by term: Focal cortical dysplasia of Taylor | ClinVar Annotator: match by term: Focal cortical dysplasia type 2 | ClinVar Annotator: match by term: Focal cortical dysplasia type II PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533067|PMID:10570911|PMID:10607950|PMID:11208653|PMID:11329144|PMID:12015165|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:15798777|PMID:16114042|PMID:16554133|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18830229|PMID:19139070|PMID:19175396|PMID:19747374|PMID:19918125|PMID:20165957|PMID:21309039|PMID:21510812|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22558107|PMID:22703879|PMID:22995991|PMID:23254740|PMID:23389244|PMID:23514105|PMID:23857276|PMID:24033266|PMID:24633152|PMID:24728327|PMID:25077650|PMID:25741868|PMID:25900779|PMID:26332594|PMID:26467025|PMID:26580448|PMID:27153395|PMID:27425891|PMID:28215400|PMID:28492532|PMID:29706646|PMID:30548481|PMID:31664448|PMID:31856217|PMID:32917966|PMID:34799483|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605 11728391 TSC1 TSC complex subunit 1 gene DOID:9009116 Urinary Bladder Neoplasm ISO RGD:736947 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Urinary Bladder Neoplasms PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533067|PMID:10570911|PMID:10607950|PMID:11208653|PMID:11329144|PMID:12111193|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:16114042|PMID:16981987|PMID:17304050|PMID:18397877|PMID:18772611|PMID:19139070|PMID:21309039|PMID:21510812|PMID:21811971|PMID:22703879|PMID:23254740|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26332594|PMID:26467025|PMID:28492532|PMID:9328481|PMID:9803264|PMID:9863590|PMID:9924605 11728391 TSC1 TSC complex subunit 1 gene DOID:9119 acute myeloid leukemia ISO RGD:736947 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:25741868|PMID:26580448|PMID:28492532 11728391 TSC1 TSC complex subunit 1 gene DOID:936 brain disease ISO RGD:736947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21062901 11728391 TSC1 TSC complex subunit 1 gene DOID:9970 obesity ISO RGD:620124 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:25807795|REF_RGD_ID:11570513 11728429 RASSF4 Ras association domain family member 4 gene DOID:630 genetic disease ISO RGD:1317179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11728429 RASSF4 Ras association domain family member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11728456 LOC100976407 uncharacterized protein C5orf64 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11728464 LETM1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:0050460 Wolf-Hirschhorn syndrome ISO RGD:1352340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mental retardation, unusual facies, and intrauterine growth retardation | ClinVar Annotator: match by term: Wolf syndrome | ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome PMID:25741868|PMID:28492532 11728464 LETM1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:1059 intellectual disability ISO RGD:1352340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14706454 11728464 LETM1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:1856 cherubism ISO RGD:1352340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11728464 LETM1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:3070 high grade glioma ISO RGD:1352340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11728464 LETM1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:1352340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11728464 LETM1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1352340 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23392203 11728464 LETM1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:9001308 Wittwer Syndrome ISO RGD:1352340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wittwer syndrome PMID:25741868|PMID:28492532 11728464 LETM1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1352340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14706454 11728464 LETM1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:9007578 LETM1-ASSOCIATED CLINICAL SPECTRUM WITH PREDOMINANT NERVOUS SYSTEM INVOLVEMENT ISO RGD:1352340 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: LETM1-associated clinical spectrum with predominant nervous system involvement PMID:25741868|PMID:36055214 11728464 LETM1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:9007987 NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION ISO RGD:1352340 D RGD:7240710 20221214 OMIM 11728464 LETM1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:9007987 NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION ISO RGD:1352340 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction PMID:25741868|PMID:36055214 11728464 LETM1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1352340 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:36055214 11728464 LETM1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1352340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14706454 11728489 EVL Enah/Vasp-like gene DOID:630 genetic disease ISO RGD:1605079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11728489 EVL Enah/Vasp-like gene DOID:9008443 Colorectal Neoplasms ISO RGD:1605079 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 11728489 EVL Enah/Vasp-like gene DOID:9008939 Breast Neoplasms ISO RGD:1605079 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 11728519 QPCT glutaminyl-peptide cyclotransferase gene DOID:0080690 RASopathy ISO RGD:735639 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11728519 QPCT glutaminyl-peptide cyclotransferase gene DOID:1909 melanoma ISO RGD:735639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 11728519 QPCT glutaminyl-peptide cyclotransferase gene DOID:3042 allergic contact dermatitis ISO RGD:735639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 11728519 QPCT glutaminyl-peptide cyclotransferase gene DOID:630 genetic disease ISO RGD:735639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11728519 QPCT glutaminyl-peptide cyclotransferase gene DOID:813 septic arthritis ISO RGD:735640 D RGD:9068941 20210212 RGD PMID:23204180|REF_RGD_ID:41410433 11728519 QPCT glutaminyl-peptide cyclotransferase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:735639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770605 11728533 LOC100980195 histone H2A type 1-B gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1353821 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11728538 FBRS fibrosin gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1342852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11728538 FBRS fibrosin gene DOID:630 genetic disease ISO RGD:1342852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11728538 FBRS fibrosin gene DOID:9007661 Dwarfism ISO RGD:1342852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11728562 TMEM199 transmembrane protein 199 gene DOID:0070268 congenital disorder of glycosylation type IIp ISO RGD:1348837 D RGD:7240710 20190315 OMIM 11728562 TMEM199 transmembrane protein 199 gene DOID:0070268 congenital disorder of glycosylation type IIp ISO RGD:1348837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: TMEM199-CDG PMID:19067230|PMID:25741868|PMID:26833330|PMID:28492532|PMID:29321044 11728562 TMEM199 transmembrane protein 199 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1348837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorders of glycosylation type II PMID:25741868|PMID:26833330|PMID:28492532|PMID:29321044 11728562 TMEM199 transmembrane protein 199 gene DOID:630 genetic disease ISO RGD:1348837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11728572 ATF6 activating transcription factor 6 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1313517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 11728572 ATF6 activating transcription factor 6 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1313517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11728572 ATF6 activating transcription factor 6 gene DOID:0110009 achromatopsia 7 ISO RGD:1313517 D RGD:7240710 20180130 OMIM 11728572 ATF6 activating transcription factor 6 gene DOID:0110009 achromatopsia 7 ISO RGD:1313517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Achromatopsia 7 PMID:24824130|PMID:25741868|PMID:26029869|PMID:26063662|PMID:26070061|PMID:28028229|PMID:28492532 11728572 ATF6 activating transcription factor 6 gene DOID:10320 asbestosis ISO RGD:1313517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25324550 11728572 ATF6 activating transcription factor 6 gene DOID:10584 retinitis pigmentosa ISO RGD:1313517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26029869 11728572 ATF6 activating transcription factor 6 gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1313517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23349890 11728572 ATF6 activating transcription factor 6 gene DOID:13399 color blindness ISO RGD:1313517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26029869 11728572 ATF6 activating transcription factor 6 gene DOID:13911 achromatopsia ISO RGD:1313517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:16199547|PMID:24033266|PMID:26029869|PMID:26063662|PMID:26070061|PMID:28041643|PMID:28492532 11728572 ATF6 activating transcription factor 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1313517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11728572 ATF6 activating transcription factor 6 gene DOID:4448 macular degeneration ISO RGD:1313517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:28041643 11728572 ATF6 activating transcription factor 6 gene DOID:5154 borna disease ISO RGD:1305471 D RGD:9068941 20200702 RGD protein:increased expression:cerebellum, hippocampus PMID:16912310|REF_RGD_ID:32733622 11728572 ATF6 activating transcription factor 6 gene DOID:5434 scrapie ISO RGD:1313517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23349890 11728572 ATF6 activating transcription factor 6 gene DOID:630 genetic disease ISO RGD:1313517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11728572 ATF6 activating transcription factor 6 gene DOID:9003137 Photophobia ISO RGD:1313517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26029869 11728572 ATF6 activating transcription factor 6 gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:1313518 D RGD:9068941 20230302 RGD PMID:36044268|REF_RGD_ID:156430337 11728572 ATF6 activating transcription factor 6 gene DOID:9008022 Temporomandibular Joint Osteoarthritis ISO RGD:1305471 D RGD:9068941 20200709 RGD mRNA,protein:increased expression:chondrocyte PMID:31007149|REF_RGD_ID:34888237 11728572 ATF6 activating transcription factor 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11728572 ATF6 activating transcription factor 6 gene DOID:9649 congenital nystagmus ISO RGD:1313517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26029869 11728594 ETV4 ETS variant transcription factor 4 gene DOID:0080205 CAKUT ISO RGD:1315190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:30143558 11728594 ETV4 ETS variant transcription factor 4 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:19894111|PMID:23996866|PMID:24686251|PMID:28492532 11728594 ETV4 ETS variant transcription factor 4 gene DOID:630 genetic disease ISO RGD:1315190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11728594 ETV4 ETS variant transcription factor 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1315190 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869830 11728594 ETV4 ETS variant transcription factor 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315190 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17173048|PMID:27783944 11728594 ETV4 ETS variant transcription factor 4 gene DOID:9008192 Neoplastic Processes ISO RGD:1315190 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27783944 11728594 ETV4 ETS variant transcription factor 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1315190 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21679465 11728611 GPR135 G protein-coupled receptor 135 gene DOID:3908 lung non-small cell carcinoma ISO RGD:736248 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:28722770 11728611 GPR135 G protein-coupled receptor 135 gene DOID:630 genetic disease ISO RGD:736248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11728617 LOC100985390 olfactory receptor 5L1 gene DOID:10283 prostate cancer ISO RGD:1345495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11728617 LOC100985390 olfactory receptor 5L1 gene DOID:1059 intellectual disability ISO RGD:1345495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11728617 LOC100985390 olfactory receptor 5L1 gene DOID:630 genetic disease ISO RGD:1345495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11728618 FANCD2 FA complementation group D2 gene DOID:0060474 familial erythrocytosis 2 ISO RGD:1343234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chuvash polycythemia PMID:10567493|PMID:10830910|PMID:17537157|PMID:19280651|PMID:19764026|PMID:20567917|PMID:28492532|PMID:8634692 11728618 FANCD2 FA complementation group D2 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1343234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 11728618 FANCD2 FA complementation group D2 gene DOID:0111083 Fanconi anemia complementation group D2 ISO RGD:1343234 D RGD:7240710 20180509 OMIM 11728618 FANCD2 FA complementation group D2 gene DOID:0111083 Fanconi anemia complementation group D2 ISO RGD:1343234 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group D2 PMID:11239453|PMID:16199547|PMID:16280053|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25168418|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:27041517|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30256826|PMID:30306255|PMID:31586946|PMID:32546565|PMID:32581362|PMID:32659967|PMID:32867815|PMID:33558524|PMID:9536098 11728618 FANCD2 FA complementation group D2 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1343234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:24728327|PMID:25168418|PMID:25741868|PMID:25927356|PMID:28492532 11728618 FANCD2 FA complementation group D2 gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1343234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 11728618 FANCD2 FA complementation group D2 gene DOID:10629 microphthalmia ISO RGD:1615723 D RGD:9068941 20200609 RGD PMID:12893777|REF_RGD_ID:11344906 11728618 FANCD2 FA complementation group D2 gene DOID:13636 Fanconi anemia ISO RGD:1343234 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:11239453|PMID:16199547|PMID:16280053|PMID:17436244|PMID:17576681|PMID:21356188|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25741868|PMID:25927356|PMID:26633542|PMID:27041517|PMID:28492532|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30713837|PMID:31586946|PMID:33558524|PMID:9536098 11728618 FANCD2 FA complementation group D2 gene DOID:13636 Fanconi anemia ISO RGD:1343234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:11239453|PMID:14695169|PMID:16199547|PMID:16280053|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:26740942|PMID:27041517|PMID:27153395|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30256826|PMID:30306255|PMID:30713837|PMID:31586946|PMID:32546565|PMID:32659967|PMID:33558524|PMID:9536098 11728618 FANCD2 FA complementation group D2 gene DOID:13636 Fanconi anemia ISO RGD:1343234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:11239453|PMID:14695169|PMID:16199547|PMID:16280053|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25640679|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:26740942|PMID:27041517|PMID:27153395|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30256826|PMID:30306255|PMID:30713837|PMID:31586946|PMID:32546565|PMID:32659967|PMID:33558524|PMID:9536098 11728618 FANCD2 FA complementation group D2 gene DOID:1612 breast cancer ISO RGD:1343234 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:24728327|PMID:25741868|PMID:28492532|PMID:33558524 11728618 FANCD2 FA complementation group D2 gene DOID:2394 ovarian cancer ISO RGD:1343234 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 11728618 FANCD2 FA complementation group D2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1615723 D RGD:9068941 20200609 RGD PMID:20935219|REF_RGD_ID:11344907 11728618 FANCD2 FA complementation group D2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1343234 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:17436244|PMID:21356188|PMID:24728327|PMID:25741868|PMID:28492532 11728618 FANCD2 FA complementation group D2 gene DOID:630 genetic disease ISO RGD:1343234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11239453|PMID:17436244|PMID:25741868|PMID:28492532 11728618 FANCD2 FA complementation group D2 gene DOID:684 hepatocellular carcinoma ISO RGD:1343234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11728618 FANCD2 FA complementation group D2 gene DOID:687 hepatoblastoma ISO RGD:1343234 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:28492532|PMID:28678401|PMID:30306255 11728618 FANCD2 FA complementation group D2 gene DOID:8923 skin melanoma ISO RGD:1343234 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:skin,nucleus: PMID:21697891|REF_RGD_ID:11046262 11728618 FANCD2 FA complementation group D2 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1343234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 11728618 FANCD2 FA complementation group D2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11728618 FANCD2 FA complementation group D2 gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1343234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 11728618 FANCD2 FA complementation group D2 gene DOID:9006493 Glandular and Epithelial Neoplasms ISO RGD:1615723 D RGD:9068941 20200609 RGD PMID:12893777|REF_RGD_ID:11344906 11728618 FANCD2 FA complementation group D2 gene DOID:9008086 Developmental Disabilities ISO RGD:1343234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25927356|PMID:28492532 11728618 FANCD2 FA complementation group D2 gene DOID:9008539 Perinatal Death ISO RGD:1615723 D RGD:9068941 20200609 RGD PMID:12893777|REF_RGD_ID:11344906 11728618 FANCD2 FA complementation group D2 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1343234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:25516202|PMID:28492532 11728648 KLF12 KLF transcription factor 12 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1319416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11728648 KLF12 KLF transcription factor 12 gene DOID:303 substance-related disorder ISO RGD:1319416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11728648 KLF12 KLF transcription factor 12 gene DOID:5419 schizophrenia ISO RGD:1319416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 11728648 KLF12 KLF transcription factor 12 gene DOID:630 genetic disease ISO RGD:1319416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11728667 CGN cingulin gene DOID:0060041 autism spectrum disorder ISO RGD:1323740 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11728667 CGN cingulin gene DOID:0080422 Dravet syndrome ISO RGD:1323740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 11728667 CGN cingulin gene DOID:0111940 immunodeficiency 42 ISO RGD:1323740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11728667 CGN cingulin gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1323740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11728667 CGN cingulin gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1323740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11728667 CGN cingulin gene DOID:1540 parathyroid carcinoma ISO RGD:1323740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11728667 CGN cingulin gene DOID:5812 MHC class II deficiency ISO RGD:1323740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11728667 CGN cingulin gene DOID:630 genetic disease ISO RGD:1323740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11728667 CGN cingulin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11728692 SLC4A4 solute carrier family 4 member 4 gene DOID:0080600 COVID-19 ISO RGD:68964 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11728692 SLC4A4 solute carrier family 4 member 4 gene DOID:10763 hypertension ISO RGD:68936 D RGD:9068941 20200609 RGD protein:increased expression:kidney cortex PMID:15340004|REF_RGD_ID:1600028 11728692 SLC4A4 solute carrier family 4 member 4 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:68936 D RGD:9068941 20200609 RGD protein:increased expression:kidney cortex PMID:12944321|REF_RGD_ID:1600034 11728692 SLC4A4 solute carrier family 4 member 4 gene DOID:14219 renal tubular acidosis ISO RGD:1332483 D RGD:9068941 20220825 MouseDO OMIM:179830 | OMIM:267200 | OMIM:602722 11728692 SLC4A4 solute carrier family 4 member 4 gene DOID:14219 renal tubular acidosis ISO RGD:68964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18614622 11728692 SLC4A4 solute carrier family 4 member 4 gene DOID:14219 renal tubular acidosis susceptibility ISO RGD:68964 D RGD:9068941 20200609 RGD DNA:point mutations: ; 1043A>C, 1678G>A PMID:10545938|REF_RGD_ID:61794 11728692 SLC4A4 solute carrier family 4 member 4 gene DOID:1686 glaucoma ISO RGD:68964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18614622 11728692 SLC4A4 solute carrier family 4 member 4 gene DOID:3910 lung adenocarcinoma ISO RGD:68964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11728692 SLC4A4 solute carrier family 4 member 4 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:68964 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 11728692 SLC4A4 solute carrier family 4 member 4 gene DOID:630 genetic disease ISO RGD:68964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11728692 SLC4A4 solute carrier family 4 member 4 gene DOID:83 cataract ISO RGD:68964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18614622 11728692 SLC4A4 solute carrier family 4 member 4 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:68964 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11728692 SLC4A4 solute carrier family 4 member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:68964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11728692 SLC4A4 solute carrier family 4 member 4 gene DOID:9006205 Animal Disease Models ISO RGD:68964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11728692 SLC4A4 solute carrier family 4 member 4 gene DOID:9007464 Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation ISO RGD:68964 D RGD:7240710 20180130 OMIM 11728692 SLC4A4 solute carrier family 4 member 4 gene DOID:9007464 Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation ISO RGD:68964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RTA, PROXIMAL, AUTOSOMAL RECESSIVE PMID:10545938|PMID:11274232|PMID:18658147|PMID:20197274|PMID:21234596|PMID:23362273|PMID:25741868|PMID:28492532 11728692 SLC4A4 solute carrier family 4 member 4 gene DOID:9008086 Developmental Disabilities ISO RGD:68964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18614622 11728692 SLC4A4 solute carrier family 4 member 4 gene DOID:9008606 Corneal Opacity ISO RGD:68964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18614622 11728727 GPR148 G protein-coupled receptor 148 gene DOID:5419 schizophrenia ISO RGD:1347773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11728727 GPR148 G protein-coupled receptor 148 gene DOID:630 genetic disease ISO RGD:1347773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11728727 GPR148 G protein-coupled receptor 148 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11728733 UTP14A UTP14A small subunit processome component gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11728733 UTP14A UTP14A small subunit processome component gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:1347961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:24357419|PMID:28492532 11728733 UTP14A UTP14A small subunit processome component gene DOID:12849 autistic disorder ISO RGD:1347961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11728733 UTP14A UTP14A small subunit processome component gene DOID:630 genetic disease ISO RGD:1347961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11728755 NUP54 nucleoporin 54 gene DOID:630 genetic disease ISO RGD:732578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11728755 NUP54 nucleoporin 54 gene DOID:891 progressive myoclonus epilepsy ISO RGD:732578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 11728755 NUP54 nucleoporin 54 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:732578 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11728772 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11728772 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1317121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11728772 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1317121 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11728772 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:0110823 hereditary spastic paraplegia 8 ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 PMID:25741868 11728772 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:0110872 holoprosencephaly 2 ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 2 PMID:25741868|PMID:34008892 11728772 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1317121 D RGD:7240710 20190320 OMIM 11728772 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1317121 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:12676901|PMID:12807965|PMID:14517949|PMID:14571271|PMID:14627693|PMID:14997421|PMID:15452385|PMID:15720303|PMID:15742365|PMID:15942875|PMID:16199547|PMID:16222665|PMID:16232326|PMID:16247291|PMID:16770806|PMID:17090394|PMID:17561922|PMID:17565728|PMID:17565729|PMID:17576681|PMID:18001468|PMID:18414213|PMID:18505455|PMID:19545651|PMID:19763152|PMID:19876911|PMID:20018718|PMID:20307669|PMID:21196496|PMID:21567906|PMID:21597970|PMID:21738022|PMID:21834047|PMID:21972110|PMID:22406018|PMID:22924495|PMID:23190751|PMID:23333153|PMID:23592277|PMID:23599694|PMID:23806086|PMID:23913520|PMID:24088041|PMID:24412544|PMID:24819041|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25608832|PMID:25640679|PMID:25741868|PMID:25741869|PMID:25852445|PMID:26043501|PMID:26047794|PMID:26257172|PMID:26613968|PMID:26633545|PMID:26690673|PMID:26896805|PMID:26938784|PMID:27604501|PMID:27834868|PMID:28128410|PMID:28475857|PMID:28492532|PMID:29264563|PMID:29276005|PMID:30029678|PMID:30719864|PMID:31147750|PMID:31981491|PMID:32170002|PMID:32277047|PMID:33389145|PMID:34008892|PMID:34033256|PMID:9536098 11728772 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:1059 intellectual disability ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11728772 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:10591 pre-eclampsia ISO RGD:1317121 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Preeclampsia PMID:12464997|PMID:12807965|PMID:15942875|PMID:17565729|PMID:18414213|PMID:21196496|PMID:24412544|PMID:25741868|PMID:26690673|PMID:27834868|PMID:28492532|PMID:30719864 11728772 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:10907 microcephaly ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11728772 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:12849 autistic disorder ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:18414213|PMID:25741868|PMID:28492532 11728772 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:14731 Weaver syndrome ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Weaver syndrome PMID:18414213|PMID:25741868|PMID:28492532 11728772 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:14748 Sotos syndrome ISO RGD:1317121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral gigantism | ClinVar Annotator: match by term: Sotos syndrome PMID:11896389|PMID:12464997|PMID:12525543|PMID:12676901|PMID:14571271|PMID:14997421|PMID:15452385|PMID:15580547|PMID:15942875|PMID:16222665|PMID:16247291|PMID:16329110|PMID:18414213|PMID:25533962|PMID:25741868|PMID:28492532|PMID:29264563|PMID:29276005 11728772 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:1826 epilepsy ISO RGD:1317121 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 11728772 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1317121 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome | ClinVar Annotator: match by term: EMG Syndrome PMID:12464997|PMID:12807965|PMID:14571271|PMID:15452385|PMID:15742365|PMID:15942875|PMID:16232326|PMID:16247291|PMID:17561922|PMID:17565729|PMID:18414213|PMID:18505455|PMID:19545651|PMID:19876911|PMID:21196496|PMID:21597970|PMID:21972110|PMID:22924495|PMID:23190751|PMID:24412544|PMID:25326635|PMID:25326637|PMID:25608832|PMID:25741868|PMID:25741869|PMID:25852445|PMID:26690673|PMID:26896805|PMID:27834868|PMID:28475857|PMID:28492532|PMID:30719864 11728772 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:5648 choroid plexus carcinoma ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Choroid plexus carcinoma PMID:26822237 11728772 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:630 genetic disease ISO RGD:1317121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11226167|PMID:12464997|PMID:12807965|PMID:14517949|PMID:14571271|PMID:15452385|PMID:15720303|PMID:15942875|PMID:16222665|PMID:16232326|PMID:16247291|PMID:17565729|PMID:18001468|PMID:18414213|PMID:21972110|PMID:23592277|PMID:24412544|PMID:25741868|PMID:25741869|PMID:26613968|PMID:26690673|PMID:26876097|PMID:28475857|PMID:28492532 11728772 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:769 neuroblastoma severity ISO RGD:1317121 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter:CpG islands (human) PMID:20018718|REF_RGD_ID:9590155 11728772 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:9003133 Hypertelorism ISO RGD:1317121 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:12464997|PMID:12807965|PMID:15942875|PMID:17565729|PMID:18414213|PMID:21196496|PMID:24412544|PMID:25741868|PMID:26690673|PMID:27834868|PMID:28492532|PMID:30719864 11728772 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11728772 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:9004464 Skin Neoplasms ISO RGD:1614441 D RGD:9068941 20200609 RGD PMID:22832494|REF_RGD_ID:9590156 11728772 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:9006084 Gigantism ISO RGD:1317121 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:6605G>A(p.C2202Y)(human) PMID:16222665|REF_RGD_ID:11568154 11728772 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1317121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:28492532|PMID:32277047 11728772 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 11728772 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868 11728772 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1317121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:17565729|PMID:23190751|PMID:25741868|PMID:28492532 11728772 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:9119 acute myeloid leukemia severity ISO RGD:1317121 D RGD:9068941 20200609 RGD DNA:translocations:multiple (human) PMID:23630019|REF_RGD_ID:9590149 11728810 IGSF5 immunoglobulin superfamily member 5 gene DOID:12849 autistic disorder ISO RGD:1352549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11728810 IGSF5 immunoglobulin superfamily member 5 gene DOID:630 genetic disease ISO RGD:1352549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11728810 IGSF5 immunoglobulin superfamily member 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352549 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11728821 HINFP histone H4 transcription factor gene DOID:0060017 CD3epsilon deficiency ISO RGD:1603667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 11728821 HINFP histone H4 transcription factor gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1603667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11728821 HINFP histone H4 transcription factor gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1603667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:22742743|PMID:28492532 11728821 HINFP histone H4 transcription factor gene DOID:0080690 RASopathy ISO RGD:1603667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:22742743|PMID:28492532 11728821 HINFP histone H4 transcription factor gene DOID:0110651 long QT syndrome 10 ISO RGD:1603667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11728821 HINFP histone H4 transcription factor gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1603667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates PMID:22742743|PMID:28492532 11728821 HINFP histone H4 transcription factor gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1603667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 11728821 HINFP histone H4 transcription factor gene DOID:0111971 immunodeficiency 18 ISO RGD:1603667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 11728821 HINFP histone H4 transcription factor gene DOID:0111972 immunodeficiency 19 ISO RGD:1603667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 11728821 HINFP histone H4 transcription factor gene DOID:0111973 immunodeficiency 17 ISO RGD:1603667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 11728821 HINFP histone H4 transcription factor gene DOID:5419 schizophrenia ISO RGD:1603667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11728821 HINFP histone H4 transcription factor gene DOID:630 genetic disease ISO RGD:1603667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11728821 HINFP histone H4 transcription factor gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11728821 HINFP histone H4 transcription factor gene DOID:9007661 Dwarfism ISO RGD:1603667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11728843 PIGX phosphatidylinositol glycan anchor biosynthesis class X gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1343989 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 11728843 PIGX phosphatidylinositol glycan anchor biosynthesis class X gene DOID:12849 autistic disorder ISO RGD:1343989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11728843 PIGX phosphatidylinositol glycan anchor biosynthesis class X gene DOID:5419 schizophrenia ISO RGD:1343989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11728843 PIGX phosphatidylinositol glycan anchor biosynthesis class X gene DOID:630 genetic disease ISO RGD:1343989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11728858 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:0050427 xeroderma pigmentosum ISO RGD:1313986 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:10766188|PMID:11511294|PMID:15654957|PMID:16081512|PMID:16550608|PMID:17079196|PMID:17084680|PMID:18414213|PMID:18809580|PMID:18955168|PMID:19609301|PMID:20054342|PMID:21273643|PMID:21482201|PMID:23173980|PMID:23278166|PMID:23400628|PMID:24218596|PMID:24728327|PMID:25256075|PMID:25525159|PMID:25566891|PMID:25741868|PMID:26884178|PMID:27153395|PMID:27387384|PMID:28492532|PMID:28615033|PMID:29178624|PMID:29330851|PMID:29569758|PMID:29684080|PMID:29973595|PMID:30101995|PMID:30256826|PMID:30306255|PMID:30516811|PMID:30675318|PMID:31017654|PMID:32239545|PMID:33821390|PMID:35111200|PMID:8298653 11728858 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1313986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:18414213|PMID:23400628|PMID:25741868|PMID:28492532 11728858 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:0060417 3p deletion syndrome ISO RGD:1313986 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 11728858 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:0110843 xeroderma pigmentosum group A ISO RGD:1313986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum group A PMID:26227012 11728858 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:0110844 xeroderma pigmentosum group C ISO RGD:1313986 D RGD:7240710 20180130 OMIM 11728858 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:0110844 xeroderma pigmentosum group C ISO RGD:1313986 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group C PMID:10766188|PMID:11511294|PMID:12177305|PMID:12509233|PMID:14662655|PMID:16081512|PMID:16199547|PMID:16550608|PMID:17079196|PMID:17084680|PMID:17119055|PMID:17576681|PMID:18414213|PMID:18478970|PMID:18809580|PMID:18955168|PMID:19609301|PMID:20054342|PMID:21273643|PMID:21482201|PMID:23173980|PMID:23278166|PMID:23400628|PMID:23984341|PMID:24218596|PMID:24728327|PMID:25256075|PMID:25326635|PMID:25525159|PMID:25566891|PMID:25741868|PMID:26278556|PMID:26884178|PMID:27153395|PMID:27387384|PMID:27607234|PMID:28492532|PMID:28669926|PMID:29178624|PMID:29330851|PMID:29569758|PMID:29684080|PMID:29973595|PMID:30101995|PMID:30256826|PMID:30306255|PMID:30516811|PMID:30675318|PMID:31017654|PMID:31319225|PMID:32239545|PMID:33821390|PMID:35111200|PMID:8298653|PMID:9536098|PMID:9804340 11728858 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:12849 autistic disorder ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9804340 11728858 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:1324 lung cancer ISO RGD:1313987 D RGD:9068941 20220825 MouseDO OMIM:211980 | OMIM:608935 | OMIM:612571 | OMIM:612593 | OMIM:614210 11728858 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:1749 squamous cell carcinoma ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27777383 11728858 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:1793 pancreatic cancer ISO RGD:1313986 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:AF076952 (human) PMID:18559563|REF_RGD_ID:2317130 11728858 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:2394 ovarian cancer ISO RGD:1313986 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 11728858 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:3114 serous cystadenocarcinoma disease_progression ISO RGD:1313986 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1124303, rs3731108 (human) PMID:21751198|REF_RGD_ID:10401086 11728858 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:3908 lung non-small cell carcinoma ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27777383 11728858 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:3910 lung adenocarcinoma ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21327329|PMID:27777383 11728858 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:630 genetic disease ISO RGD:1313986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11728858 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:7400 Nijmegen breakage syndrome ISO RGD:1313986 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency PMID:25741868 11728858 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:9000918 Disease Progression ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27777383 11728858 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27777383 11728858 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27777383 11728858 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:9004814 Chromosome Aberrations ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20106949 11728858 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:9005172 Lung Neoplasms ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17325666|PMID:24084170 11728858 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216194 11728858 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:9007188 Liver Neoplasms ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24084170 11728858 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:9252 amino acid metabolic disorder ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9804340 11728879 KLHL3 kelch like family member 3 gene DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 ISO RGD:1346820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant PMID:24033266|PMID:25741868|PMID:28492532 11728879 KLHL3 kelch like family member 3 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1346820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11728879 KLHL3 kelch like family member 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1346820 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11728879 KLHL3 kelch like family member 3 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1346820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 11728879 KLHL3 kelch like family member 3 gene DOID:1969 cerebral palsy ISO RGD:1346820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 11728879 KLHL3 kelch like family member 3 gene DOID:4479 pseudohypoaldosteronism ISO RGD:1346820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperpotassemia and hypertension familial PMID:22266938|PMID:22406640|PMID:24821705|PMID:25741868|PMID:25925082|PMID:28492532 11728879 KLHL3 kelch like family member 3 gene DOID:630 genetic disease ISO RGD:1346820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24641320|PMID:25741868|PMID:28492532 11728879 KLHL3 kelch like family member 3 gene DOID:9001548 Pseudohypoaldosteronism, Type IID ISO RGD:1346820 D RGD:7240710 20180130 OMIM 11728879 KLHL3 kelch like family member 3 gene DOID:9001548 Pseudohypoaldosteronism, Type IID ISO RGD:1346820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FAMILIAL HYPERKALEMIC HYPERTENSION PMID:22266938|PMID:22406640|PMID:24033266|PMID:24821705|PMID:25741868|PMID:25741906|PMID:25925082|PMID:28492532 11728879 KLHL3 kelch like family member 3 gene DOID:9002890 Pseudohypoaldosteronism, Type IIA ISO RGD:1346820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome PMID:22266938|PMID:22406640|PMID:24821705|PMID:25741868|PMID:25925082|PMID:28492532 11728879 KLHL3 kelch like family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11728879 KLHL3 kelch like family member 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346820 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11728909 LOC100996206 interferon omega-1 gene DOID:5419 schizophrenia ISO RGD:1350481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11728909 LOC100996206 interferon omega-1 gene DOID:630 genetic disease ISO RGD:1350481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11728918 SDHAF2 succinate dehydrogenase complex assembly factor 2 gene DOID:0050771 pheochromocytoma ISO RGD:1606278 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:28492532 11728918 SDHAF2 succinate dehydrogenase complex assembly factor 2 gene DOID:0050773 paraganglioma ISO RGD:1606278 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paragangliomata PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:21224366|PMID:21348866|PMID:22241717|PMID:22703879|PMID:23666964|PMID:24033266|PMID:24414418|PMID:24712571|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26269449|PMID:26467025|PMID:28099933|PMID:28492532|PMID:31687641|PMID:6264239|PMID:6286462|PMID:9536098 11728918 SDHAF2 succinate dehydrogenase complex assembly factor 2 gene DOID:0050773 paraganglioma ISO RGD:1606278 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:20301715|PMID:21224366|PMID:21348866|PMID:21752896|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:24712571|PMID:25394176|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26269449|PMID:26467025|PMID:28099933|PMID:28492532|PMID:30050099|PMID:30306255|PMID:31687641|PMID:32741965|PMID:32887801|PMID:33748650|PMID:36597280|PMID:6264239|PMID:6286462|PMID:9536098 11728918 SDHAF2 succinate dehydrogenase complex assembly factor 2 gene DOID:0050777 Joubert syndrome ISO RGD:1606278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11728918 SDHAF2 succinate dehydrogenase complex assembly factor 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11728918 SDHAF2 succinate dehydrogenase complex assembly factor 2 gene DOID:1059 intellectual disability ISO RGD:1606278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11728918 SDHAF2 succinate dehydrogenase complex assembly factor 2 gene DOID:2394 ovarian cancer ISO RGD:1606278 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:26016412|PMID:28492532|PMID:30050099 11728918 SDHAF2 succinate dehydrogenase complex assembly factor 2 gene DOID:893 Wilson disease ISO RGD:1606278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 11728918 SDHAF2 succinate dehydrogenase complex assembly factor 2 gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:1606278 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:28492532 11728918 SDHAF2 succinate dehydrogenase complex assembly factor 2 gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:1606278 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:20301715|PMID:21224366|PMID:21348866|PMID:21752896|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:24712571|PMID:25394176|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26269449|PMID:26467025|PMID:28099933|PMID:28492532|PMID:30050099|PMID:30306255|PMID:31687641|PMID:32741965|PMID:32887801|PMID:33748650|PMID:36597280|PMID:6264239|PMID:6286462|PMID:9536098 11728918 SDHAF2 succinate dehydrogenase complex assembly factor 2 gene DOID:9005655 Paragangliomas 2 ISO RGD:1606278 D RGD:7240710 20180130 OMIM 11728918 SDHAF2 succinate dehydrogenase complex assembly factor 2 gene DOID:9005655 Paragangliomas 2 ISO RGD:1606278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paragangliomas 2 PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:20301715|PMID:21224366|PMID:21348866|PMID:22241717|PMID:24414418|PMID:25741868|PMID:26096992|PMID:26467025|PMID:28099933|PMID:28492532|PMID:6264239|PMID:6286462|PMID:9536098 11728918 SDHAF2 succinate dehydrogenase complex assembly factor 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606278 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:19628817|PMID:20071235|PMID:21348866|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26467025|PMID:28099933|PMID:28492532|PMID:30050099|PMID:31687641|PMID:6286462|PMID:9536098 11728918 SDHAF2 succinate dehydrogenase complex assembly factor 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606278 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:17576681|PMID:19628817|PMID:20071235|PMID:20301715|PMID:21348866|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26467025|PMID:28099933|PMID:28492532|PMID:30050099|PMID:31687641|PMID:6286462|PMID:9536098 11728918 SDHAF2 succinate dehydrogenase complex assembly factor 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606278 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:20301715|PMID:21224366|PMID:21348866|PMID:21752896|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:24712571|PMID:25394176|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26269449|PMID:26467025|PMID:28099933|PMID:28492532|PMID:29641532|PMID:30050099|PMID:30306255|PMID:31687641|PMID:32741965|PMID:32887801|PMID:33748650|PMID:36597280|PMID:6264239|PMID:6286462|PMID:9536098 11728973 ERAL1 Era like 12S mitochondrial rRNA chaperone 1 gene DOID:0050857 Perrault syndrome ISO RGD:1312320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perrault syndrome PMID:28449065 11728973 ERAL1 Era like 12S mitochondrial rRNA chaperone 1 gene DOID:0080256 Perrault syndrome 6 ISO RGD:1312320 D RGD:7240710 20200611 OMIM 11728973 ERAL1 Era like 12S mitochondrial rRNA chaperone 1 gene DOID:0080256 Perrault syndrome 6 ISO RGD:1312320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perrault syndrome 6 PMID:25741868|PMID:28449065 11728973 ERAL1 Era like 12S mitochondrial rRNA chaperone 1 gene DOID:0080600 COVID-19 ISO RGD:1312320 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11728973 ERAL1 Era like 12S mitochondrial rRNA chaperone 1 gene DOID:630 genetic disease ISO RGD:1312320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11728973 ERAL1 Era like 12S mitochondrial rRNA chaperone 1 gene DOID:9004538 Hearing Loss ISO RGD:1312320 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hearing impairment 11728991 CDIP1 cell death inducing p53 target 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1321732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11728991 CDIP1 cell death inducing p53 target 1 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1321732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 11728991 CDIP1 cell death inducing p53 target 1 gene DOID:1826 epilepsy ISO RGD:1321732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11728991 CDIP1 cell death inducing p53 target 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1321732 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11728991 CDIP1 cell death inducing p53 target 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1321732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 11728991 CDIP1 cell death inducing p53 target 1 gene DOID:630 genetic disease ISO RGD:1321732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11729004 SMPD2 sphingomyelin phosphodiesterase 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:732430 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 11729004 SMPD2 sphingomyelin phosphodiesterase 2 gene DOID:630 genetic disease ISO RGD:732430 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11729018 TBC1D8 TBC1 domain family member 8 gene DOID:630 genetic disease ISO RGD:1347118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11729057 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313416 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11729057 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1313416 D RGD:9068941 20220818 RGD human cells in mouse model PMID:30453282|REF_RGD_ID:153323337 11729057 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:630 genetic disease ISO RGD:1313416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11729057 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1313416 D RGD:9068941 20220818 RGD protein:increased expression:blood serum (human) PMID:24892551|REF_RGD_ID:153323333 11729057 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1313417 D RGD:9068941 20220818 RGD protein:increased expression:blood serum (mouse) PMID:24892551|REF_RGD_ID:153323333 11729057 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1313416 D RGD:9068941 20220818 RGD human cells in mouse model PMID:21394108|REF_RGD_ID:153323335 11729057 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313416 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30453282 11729057 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:9002170 Experimental Neoplasms ISO RGD:1313416 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30453282 11729057 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:9003690 Carcinoma, Lewis Lung ISO RGD:1313416 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30453282 11729057 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11729057 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1313416 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30453282 11729057 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313416 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11729068 SYT4 synaptotagmin 4 gene DOID:1059 intellectual disability ISO RGD:68582 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11729068 SYT4 synaptotagmin 4 gene DOID:11832 visual epilepsy ISO RGD:68397 D RGD:9068941 20200609 RGD PMID:8872307|REF_RGD_ID:730127 11729068 SYT4 synaptotagmin 4 gene DOID:1909 melanoma ISO RGD:68582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 11729068 SYT4 synaptotagmin 4 gene DOID:630 genetic disease ISO RGD:68582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11729076 UHRF1 ubiquitin like with PHD and ring finger domains 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1352913 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11729076 UHRF1 ubiquitin like with PHD and ring finger domains 1 gene DOID:630 genetic disease ISO RGD:1352913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11729076 UHRF1 ubiquitin like with PHD and ring finger domains 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1352913 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11729076 UHRF1 ubiquitin like with PHD and ring finger domains 1 gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:1332040 D RGD:9068941 20200609 RGD PMID:20442318|REF_RGD_ID:9587430 11729096 PSMB10 proteasome 20S subunit beta 10 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1316619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11729096 PSMB10 proteasome 20S subunit beta 10 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1316619 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11729096 PSMB10 proteasome 20S subunit beta 10 gene DOID:630 genetic disease ISO RGD:1316619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11729096 PSMB10 proteasome 20S subunit beta 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316619 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11729096 PSMB10 proteasome 20S subunit beta 10 gene DOID:9009033 Proteasome-Associated Autoinflammatory Syndrome 5 ISO RGD:1316619 D RGD:7240710 20210303 OMIM 11729096 PSMB10 proteasome 20S subunit beta 10 gene DOID:9009033 Proteasome-Associated Autoinflammatory Syndrome 5 ISO RGD:1316619 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 5 PMID:25741868|PMID:31783057 11729108 CETN1 centrin 1 gene DOID:12849 autistic disorder ISO RGD:1344937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11729108 CETN1 centrin 1 gene DOID:630 genetic disease ISO RGD:1344937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11729108 CETN1 centrin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11729113 RPS3A ribosomal protein S3A gene DOID:630 genetic disease ISO RGD:1348881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11729123 SYDE2 synapse defective Rho GTPase homolog 2 gene DOID:630 genetic disease ISO RGD:1602090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11729137 SLC4A2 solute carrier family 4 member 2 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:733302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 11729137 SLC4A2 solute carrier family 4 member 2 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:3711 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, altered localization:cholangiocyte, basolateral plasma membrane PMID:18988797|REF_RGD_ID:2307071 11729137 SLC4A2 solute carrier family 4 member 2 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:733302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 11729137 SLC4A2 solute carrier family 4 member 2 gene DOID:11716 prediabetes syndrome ISO RGD:3711 D RGD:9068941 20200609 RGD protein:increased expression:epididymis PMID:24105628|REF_RGD_ID:9999379 11729137 SLC4A2 solute carrier family 4 member 2 gene DOID:12236 primary biliary cholangitis ISO RGD:733302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18188457 11729137 SLC4A2 solute carrier family 4 member 2 gene DOID:14219 renal tubular acidosis ISO RGD:733302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:31959358 11729137 SLC4A2 solute carrier family 4 member 2 gene DOID:2843 long QT syndrome ISO RGD:733302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 11729137 SLC4A2 solute carrier family 4 member 2 gene DOID:630 genetic disease ISO RGD:733302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11729137 SLC4A2 solute carrier family 4 member 2 gene DOID:899 choledochal cyst ISO RGD:733302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 11729137 SLC4A2 solute carrier family 4 member 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11729137 SLC4A2 solute carrier family 4 member 2 gene DOID:9004633 Autosomal Recessive Osteopetrosis 9 ISO RGD:733302 D RGD:7240710 20230510 OMIM 11729137 SLC4A2 solute carrier family 4 member 2 gene DOID:9007331 Alkalosis ISO RGD:3711 D RGD:9068941 20200609 RGD associated with Hypercalcemia;protein:decreased expression:kidney outer medulla inner stripe PMID:17367404|REF_RGD_ID:9999377 11729137 SLC4A2 solute carrier family 4 member 2 gene DOID:9007406 Distal Renal Tubular Acidosis ISO RGD:733302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:31959358 11729176 ARID4A AT-rich interaction domain 4A gene DOID:0110992 Joubert syndrome 23 ISO RGD:1316636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 23 PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532 11729176 ARID4A AT-rich interaction domain 4A gene DOID:630 genetic disease ISO RGD:1316636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11729176 ARID4A AT-rich interaction domain 4A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11729176 ARID4A AT-rich interaction domain 4A gene DOID:9119 acute myeloid leukemia ISO RGD:1316637 D RGD:9068941 20220825 MouseDO OMIM:601626 11729176 ARID4A AT-rich interaction domain 4A gene DOID:9538 multiple myeloma ISO RGD:1316636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11729206 CA10 carbonic anhydrase 10 gene DOID:630 genetic disease ISO RGD:1352724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11729248 TMEM30B transmembrane protein 30B gene DOID:1909 melanoma ISO RGD:1318678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 11729248 TMEM30B transmembrane protein 30B gene DOID:630 genetic disease ISO RGD:1318678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11729260 TCHP trichoplein keratin filament binding gene DOID:630 genetic disease ISO RGD:1604269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11729277 NR2E3 nuclear receptor subfamily 2 group E member 3 gene DOID:0050572 cone-rod dystrophy ISO RGD:1351565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:10655056|PMID:15459973|PMID:16199547|PMID:18294254|PMID:19273793|PMID:19718767|PMID:21217109|PMID:23591405|PMID:23989059|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25703721|PMID:25741868|PMID:26894784|PMID:27522502|PMID:27573156|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30324420|PMID:30718709|PMID:32679203 11729277 NR2E3 nuclear receptor subfamily 2 group E member 3 gene DOID:0050633 ocular albinism ISO RGD:1351565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ocular albinism PMID:10655056|PMID:15459973|PMID:16199547|PMID:18294254|PMID:19273793|PMID:19718767|PMID:21217109|PMID:23591405|PMID:23989059|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25703721|PMID:25741868|PMID:26894784|PMID:27522502|PMID:27573156|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30324420|PMID:30718709|PMID:32679203 11729277 NR2E3 nuclear receptor subfamily 2 group E member 3 gene DOID:0090059 enhanced S-cone syndrome ISO RGD:1351565 D RGD:7240710 20180130 OMIM 11729277 NR2E3 nuclear receptor subfamily 2 group E member 3 gene DOID:0090059 enhanced S-cone syndrome ISO RGD:1351565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Enhanced S-cone syndrome | ClinVar Annotator: match by term: Goldmann-Favre syndrome | ClinVar Annotator: match by term: NR2E3-Related Disorders PMID:10655056|PMID:11071390|PMID:11773633|PMID:12963616|PMID:15459973|PMID:15689355|PMID:16024868|PMID:16199547|PMID:16225923|PMID:17438525|PMID:17564971|PMID:17576681|PMID:17601449|PMID:18294254|PMID:18436841|PMID:18835469|PMID:19006237|PMID:19139342|PMID:19273793|PMID:19718767|PMID:19823680|PMID:19898638|PMID:19933183|PMID:21217109|PMID:21364904|PMID:22711506|PMID:23105016|PMID:23374571|PMID:23591405|PMID:23604511|PMID:23989059|PMID:24033266|PMID:24069298|PMID:24265693|PMID:24339724|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25356976|PMID:25703721|PMID:25741868|PMID:25999674|PMID:26229699|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27013732|PMID:27032803|PMID:27522502|PMID:27573156|PMID:27874104|PMID:28041643|PMID:28224992|PMID:28300834|PMID:28418496|PMID:28492532|PMID:28541266|PMID:28559085|PMID:28771251|PMID:28944237|PMID:29193891|PMID:29343940|PMID:29431110|PMID:29785639|PMID:30054919|PMID:30285900|PMID:30324420|PMID:30543658|PMID:30718709|PMID:31054281|PMID:31370859|PMID:32037395|PMID:32679203|PMID:33781268|PMID:9536098 11729277 NR2E3 nuclear receptor subfamily 2 group E member 3 gene DOID:0110399 retinitis pigmentosa 37 ISO RGD:1351565 D RGD:7240710 20180130 OMIM 11729277 NR2E3 nuclear receptor subfamily 2 group E member 3 gene DOID:0110399 retinitis pigmentosa 37 ISO RGD:1351565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 37 PMID:10655056|PMID:11071390|PMID:11773633|PMID:12963616|PMID:15459973|PMID:15689355|PMID:16024868|PMID:16199547|PMID:16225923|PMID:17438525|PMID:17564971|PMID:17601449|PMID:17982421|PMID:18294254|PMID:18436841|PMID:18835469|PMID:19006237|PMID:19139342|PMID:19273793|PMID:19718767|PMID:19823680|PMID:19898638|PMID:19933183|PMID:21217109|PMID:23039133|PMID:23105016|PMID:23374571|PMID:23591405|PMID:23989059|PMID:24033266|PMID:24069298|PMID:24265693|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25326637|PMID:25703721|PMID:25741868|PMID:26355662|PMID:26894784|PMID:26910043|PMID:27522502|PMID:27573156|PMID:27874104|PMID:28041643|PMID:28224992|PMID:28300834|PMID:28492532|PMID:28559085|PMID:28771251|PMID:28944237|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30054919|PMID:30324420|PMID:30543658|PMID:30718709|PMID:32679203|PMID:33781268 11729277 NR2E3 nuclear receptor subfamily 2 group E member 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1351565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10655056|PMID:11071390|PMID:11773633|PMID:12963616|PMID:15453866|PMID:15459973|PMID:15689355|PMID:16024868|PMID:16199547|PMID:16225923|PMID:17438525|PMID:17564971|PMID:17982421|PMID:18294254|PMID:18436841|PMID:18835469|PMID:19006237|PMID:19139342|PMID:19273793|PMID:19718767|PMID:19823680|PMID:19898638|PMID:19933183|PMID:21217109|PMID:21364904|PMID:22711506|PMID:23039133|PMID:23105016|PMID:23374571|PMID:23591405|PMID:23989059|PMID:24033266|PMID:24069298|PMID:24339724|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25326637|PMID:25703721|PMID:25741868|PMID:26355662|PMID:26894784|PMID:26910043|PMID:27032803|PMID:27522502|PMID:27573156|PMID:27874104|PMID:28041643|PMID:28224992|PMID:28300834|PMID:28492532|PMID:28541266|PMID:28559085|PMID:28771251|PMID:28944237|PMID:28981474|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30054919|PMID:30324420|PMID:30718709|PMID:31054281 11729277 NR2E3 nuclear receptor subfamily 2 group E member 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1351565 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10655056|PMID:11071390|PMID:11773633|PMID:12963616|PMID:15459973|PMID:15689355|PMID:16024868|PMID:16199547|PMID:16225923|PMID:17438525|PMID:17564971|PMID:17576681|PMID:17982421|PMID:18294254|PMID:18436841|PMID:18835469|PMID:19006237|PMID:19139342|PMID:19273793|PMID:19718767|PMID:19823680|PMID:19898638|PMID:19933183|PMID:21217109|PMID:21364904|PMID:22711506|PMID:23105016|PMID:23374571|PMID:23591405|PMID:23989059|PMID:24033266|PMID:24069298|PMID:24339724|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25326637|PMID:25703721|PMID:25741868|PMID:26355662|PMID:26894784|PMID:26910043|PMID:27032803|PMID:27522502|PMID:27573156|PMID:27874104|PMID:28041643|PMID:28224992|PMID:28300834|PMID:28492532|PMID:28541266|PMID:28559085|PMID:28771251|PMID:28944237|PMID:28981474|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30054919|PMID:30324420|PMID:30718709|PMID:32037395|PMID:32679203|PMID:32901917|PMID:9536098 11729277 NR2E3 nuclear receptor subfamily 2 group E member 3 gene DOID:14791 Leber congenital amaurosis ISO RGD:1351565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:10655056|PMID:19898638|PMID:24069298|PMID:24891813|PMID:25703721|PMID:28300834|PMID:28492532 11729277 NR2E3 nuclear receptor subfamily 2 group E member 3 gene DOID:2717 Bloom syndrome ISO RGD:1351565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11729277 NR2E3 nuclear receptor subfamily 2 group E member 3 gene DOID:3320 Tay-Sachs disease ISO RGD:1351565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 11729277 NR2E3 nuclear receptor subfamily 2 group E member 3 gene DOID:630 genetic disease ISO RGD:1351565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10655056|PMID:15459973|PMID:16199547|PMID:18294254|PMID:19273793|PMID:19718767|PMID:21217109|PMID:23591405|PMID:23989059|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25703721|PMID:25741868|PMID:26894784|PMID:27522502|PMID:27573156|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30324420|PMID:30718709|PMID:32679203 11729277 NR2E3 nuclear receptor subfamily 2 group E member 3 gene DOID:8501 fundus dystrophy ISO RGD:1351565 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10655056|PMID:11071390|PMID:11773633|PMID:12963616|PMID:15459973|PMID:15689355|PMID:16024868|PMID:16199547|PMID:16225923|PMID:17438525|PMID:17564971|PMID:17982421|PMID:18294254|PMID:18436841|PMID:18835469|PMID:19006237|PMID:19139342|PMID:19273793|PMID:19718767|PMID:19823680|PMID:19898638|PMID:21217109|PMID:21364904|PMID:22711506|PMID:23374571|PMID:23591405|PMID:23989059|PMID:24033266|PMID:24069298|PMID:24339724|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25326637|PMID:25356976|PMID:25703721|PMID:25741868|PMID:25999674|PMID:26229699|PMID:26355662|PMID:26894784|PMID:26910043|PMID:27013732|PMID:27032803|PMID:27522502|PMID:27573156|PMID:27874104|PMID:28041643|PMID:28224992|PMID:28300834|PMID:28418496|PMID:28492532|PMID:28541266|PMID:28559085|PMID:28771251|PMID:28944237|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30054919|PMID:30324420|PMID:30543658|PMID:30718709|PMID:32037395|PMID:32581362|PMID:32679203|PMID:32901917 11729277 NR2E3 nuclear receptor subfamily 2 group E member 3 gene DOID:9000343 Vision Disorders ISO RGD:1351565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:10655056|PMID:15459973|PMID:16199547|PMID:18294254|PMID:19273793|PMID:19718767|PMID:21217109|PMID:23591405|PMID:23989059|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25703721|PMID:25741868|PMID:26894784|PMID:27522502|PMID:27573156|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30324420|PMID:30718709|PMID:32679203 11729277 NR2E3 nuclear receptor subfamily 2 group E member 3 gene DOID:9008296 Eye Abnormalities ISO RGD:1351565 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25079116|PMID:26894784|PMID:28041643|PMID:28492532|PMID:28559085|PMID:32581362|PMID:32679203 11729277 NR2E3 nuclear receptor subfamily 2 group E member 3 gene DOID:9256 colorectal cancer ISO RGD:1351565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11729291 IGLON5 IgLON family member 5 gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:2302828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:16510302|PMID:23785301|PMID:28492532 11729291 IGLON5 IgLON family member 5 gene DOID:630 genetic disease ISO RGD:2302828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11729322 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:0080000 muscular disease ISO RGD:1322904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239484 11729322 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:0081268 pulmonary venoocclusive disease 1 ISO RGD:1322904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1, autosomal dominant PMID:24033266 11729322 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:0081269 pulmonary venoocclusive disease 2 ISO RGD:1322904 D RGD:7240710 20180130 OMIM 11729322 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:0081269 pulmonary venoocclusive disease 2 ISO RGD:1322904 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis PMID:12215525|PMID:24033266|PMID:24135949|PMID:24292273|PMID:24310610|PMID:25512148|PMID:25741868|PMID:26387786|PMID:27684876|PMID:28492532|PMID:28972005|PMID:29743074|PMID:30285736|PMID:31711431|PMID:32581362 11729322 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:2717 Bloom syndrome ISO RGD:1322904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11729322 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:2914 immune system disease ISO RGD:1322904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239484 11729322 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:421 hair disease ISO RGD:1322904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239484 11729322 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:1322904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24292273 11729322 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:1322904 D RGD:9068941 20200903 RGD protein:decreased expression:lung PMID:32209028|REF_RGD_ID:38549370 11729322 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:5453 pulmonary venoocclusive disease disease_progression ISO RGD:1311439 D RGD:9068941 20200903 RGD PMID:32209028|REF_RGD_ID:38549370 11729322 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:630 genetic disease ISO RGD:1322904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11729322 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:6432 pulmonary hypertension ISO RGD:1322904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24292273 11729322 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1322904 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25741868|PMID:28492532|PMID:32581362 11729322 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:9252 amino acid metabolic disorder ISO RGD:1322904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239484 11729322 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:9256 colorectal cancer ISO RGD:1322904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11729366 MME membrane metalloendopeptidase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:737353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:25741868|PMID:28492532 11729366 MME membrane metalloendopeptidase gene DOID:0080600 COVID-19 ISO RGD:737353 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11729366 MME membrane metalloendopeptidase gene DOID:0110160 Charcot-Marie-Tooth disease axonal type 2T ISO RGD:737353 D RGD:7240710 20190315 OMIM 11729366 MME membrane metalloendopeptidase gene DOID:0110160 Charcot-Marie-Tooth disease axonal type 2T ISO RGD:737353 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2T | ClinVar Annotator: match by term: MME-related autosomal dominant Charcot Marie Tooth disease type 2 PMID:15464186|PMID:16199547|PMID:25565308|PMID:25741868|PMID:26991897|PMID:27588448|PMID:28492532|PMID:31673878|PMID:33144514|PMID:34758253 11729366 MME membrane metalloendopeptidase gene DOID:0111745 cerebellar ataxia type 43 ISO RGD:737353 D RGD:7240710 20190315 OMIM 11729366 MME membrane metalloendopeptidase gene DOID:0111745 cerebellar ataxia type 43 ISO RGD:737353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 43 PMID:15464186|PMID:24033266|PMID:25565308|PMID:25741868|PMID:26991897|PMID:27583304|PMID:27588448|PMID:28492532|PMID:30415211|PMID:33144514 11729366 MME membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease ISO RGD:734285 D RGD:9068941 20200609 RGD PMID:12074840|PMID:25991605|REF_RGD_ID:13801010|REF_RGD_ID:13801022 11729366 MME membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease ISO RGD:734285 D RGD:9068941 20220825 MouseDO OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 11729366 MME membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease ISO RGD:737353 D RGD:9068941 20200609 RGD PMID:25884928|REF_RGD_ID:13801034 11729366 MME membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease ISO RGD:737353 D RGD:9068941 20200609 RGD DNA:SNP: :rs6797911 (human) PMID:22493749|REF_RGD_ID:13801011 11729366 MME membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease ISO RGD:737353 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:promoter, introns:-204G>C, IVS17-294C>T, IVS22+36C>A (human) PMID:15860464|REF_RGD_ID:13801021 11729366 MME membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease ISO RGD:737353 D RGD:9068941 20200609 RGD DNA:SNPs:introns:rs1836915, rs6776185, rs6801319 (human) PMID:17928142|REF_RGD_ID:13801023 11729366 MME membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease no_association ISO RGD:737353 D RGD:9068941 20200609 RGD DNA:SNPs, repeat:multiple:multiple PMID:17928142|REF_RGD_ID:13801023 11729366 MME membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease no_association ISO RGD:737353 D RGD:9068941 20200609 RGD DNA:SNPs, repeats, deletion:promoter:multiple PMID:12527400|REF_RGD_ID:13801020 11729366 MME membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease no_association ISO RGD:737353 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:22493749|REF_RGD_ID:13801011 11729366 MME membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease no_association ISO RGD:737353 D RGD:9068941 20200609 RGD DNA:SNPs:5' utr, 3' utr:rs3736187, rs989692, rs701109 (human) PMID:21537452|REF_RGD_ID:13801012 11729366 MME membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease no_association ISO RGD:737353 D RGD:9068941 20200609 RGD DNA:repeats PMID:11849775|REF_RGD_ID:1600813 11729366 MME membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease onset ISO RGD:737353 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:rs6665 (human) PMID:28294061|REF_RGD_ID:13801009 11729366 MME membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease severity ISO RGD:737353 D RGD:9068941 20200609 RGD PMID:19606063|REF_RGD_ID:13801019 11729366 MME membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease treatment ISO RGD:3098 D RGD:9068941 20200609 RGD PMID:20141738|REF_RGD_ID:13801024 11729366 MME membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease treatment ISO RGD:734285 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:25416980|REF_RGD_ID:13801033 11729366 MME membrane metalloendopeptidase gene DOID:1074 kidney failure ISO RGD:737353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10485324 11729366 MME membrane metalloendopeptidase gene DOID:10763 hypertension treatment ISO RGD:3098 D RGD:9068941 20200609 RGD PMID:12011651|REF_RGD_ID:13801039 11729366 MME membrane metalloendopeptidase gene DOID:10976 membranous glomerulonephritis ISO RGD:737353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization PMID:15464186|PMID:24033266|PMID:25565308|PMID:25741868|PMID:26991897|PMID:27588448|PMID:28492532|PMID:30415211 11729366 MME membrane metalloendopeptidase gene DOID:13250 diarrhea treatment ISO RGD:3098 D RGD:9068941 20200609 RGD PMID:3481337|REF_RGD_ID:13801042 11729366 MME membrane metalloendopeptidase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:27588448|PMID:28492532 11729366 MME membrane metalloendopeptidase gene DOID:574 peripheral nervous system disease ISO RGD:737353 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:26991897|PMID:28492532 11729366 MME membrane metalloendopeptidase gene DOID:6000 congestive heart failure ISO RGD:3098 D RGD:9068941 20200609 RGD PMID:12383878|REF_RGD_ID:13801043 11729366 MME membrane metalloendopeptidase gene DOID:630 genetic disease ISO RGD:737353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33144514 11729366 MME membrane metalloendopeptidase gene DOID:630 genetic disease ISO RGD:737353 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:33144514|PMID:9536098 11729366 MME membrane metalloendopeptidase gene DOID:684 hepatocellular carcinoma ISO RGD:3098 D RGD:9068941 20200609 RGD PMID:8302012|REF_RGD_ID:13801035 11729366 MME membrane metalloendopeptidase gene DOID:824 periodontitis ISO RGD:737353 D RGD:9068941 20200609 RGD mRNA:increased expression:gingiva PMID:28285126|REF_RGD_ID:13801025 11729366 MME membrane metalloendopeptidase gene DOID:870 neuropathy ISO RGD:737353 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive axonal hereditary motor and sensory neuropathy | ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:26991897|PMID:28492532 11729366 MME membrane metalloendopeptidase gene DOID:9000310 Lung Injury ISO RGD:737353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21114838 11729366 MME membrane metalloendopeptidase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16085334 11729366 MME membrane metalloendopeptidase gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:3098 D RGD:9068941 20200609 RGD PMID:8201016|REF_RGD_ID:13801045 11729366 MME membrane metalloendopeptidase gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:737353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11729366 MME membrane metalloendopeptidase gene DOID:9002304 Prostatic Neoplasms ISO RGD:737353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17173048 11729366 MME membrane metalloendopeptidase gene DOID:9002669 Hypoxia ISO RGD:3098 D RGD:9068941 20200609 RGD PMID:11557598|REF_RGD_ID:13801041 11729366 MME membrane metalloendopeptidase gene DOID:9002669 Hypoxia treatment ISO RGD:737353 D RGD:9068941 20200609 RGD PMID:11557598|REF_RGD_ID:13801041 11729366 MME membrane metalloendopeptidase gene DOID:9005930 Endotoxemia severity ISO RGD:3098 D RGD:9068941 20200609 RGD PMID:11078421|REF_RGD_ID:13801040 11729366 MME membrane metalloendopeptidase gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:737353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12928894 11729366 MME membrane metalloendopeptidase gene DOID:9008939 Breast Neoplasms ISO RGD:737353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23063927 11729366 MME membrane metalloendopeptidase gene DOID:9246 cerebral amyloid angiopathy severity ISO RGD:737353 D RGD:9068941 20200609 RGD PMID:21382117|REF_RGD_ID:13801026 11729366 MME membrane metalloendopeptidase gene DOID:9246 cerebral amyloid angiopathy severity ISO RGD:737353 D RGD:9068941 20200609 RGD associated with Alzheimer Disease;protein:decreased expression:frontal lobe cortex (human) PMID:17021406|REF_RGD_ID:1600811 11729366 MME membrane metalloendopeptidase gene DOID:9743 diabetic neuropathy ISO RGD:737353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20148083 11729416 LOC100985683 cytochrome b-c1 complex subunit 7 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1323703 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 PMID:12709789|PMID:25446085|PMID:28492532|PMID:28604960 11729416 LOC100985683 cytochrome b-c1 complex subunit 7 gene DOID:0080112 mitochondrial complex III deficiency nuclear type 3 ISO RGD:1323703 D RGD:7240710 20180130 OMIM 11729416 LOC100985683 cytochrome b-c1 complex subunit 7 gene DOID:0080112 mitochondrial complex III deficiency nuclear type 3 ISO RGD:1323703 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 3 PMID:25741868 11729416 LOC100985683 cytochrome b-c1 complex subunit 7 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1323703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant PMID:24442880|PMID:28492532 11729416 LOC100985683 cytochrome b-c1 complex subunit 7 gene DOID:1596 depressive disorder ISO RGD:1311971 D RGD:9068941 20200609 RGD PMID:22311638|REF_RGD_ID:13801196 11729416 LOC100985683 cytochrome b-c1 complex subunit 7 gene DOID:630 genetic disease ISO RGD:1323703 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11729416 LOC100985683 cytochrome b-c1 complex subunit 7 gene DOID:655 inherited metabolic disorder ISO RGD:1323703 D RGD:9068941 20200609 RGD mitochondrial complex III deficiency, OMIM:124000 PMID:12709789|REF_RGD_ID:1599707 11729424 NTN4 netrin 4 gene DOID:10283 prostate cancer ISO RGD:1348678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11729424 NTN4 netrin 4 gene DOID:630 genetic disease ISO RGD:1348678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11729441 LOC100986903 embryonic testis differentiation protein homolog B gene DOID:12849 autistic disorder ISO RGD:6892971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11729454 CD1C CD1c molecule gene DOID:1540 parathyroid carcinoma ISO RGD:1344711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11729454 CD1C CD1c molecule gene DOID:630 genetic disease ISO RGD:1344711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11729454 CD1C CD1c molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11729468 GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 gene DOID:1059 intellectual disability ISO RGD:732908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11729468 GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 gene DOID:12704 ataxia telangiectasia ISO RGD:732908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11729468 GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 gene DOID:630 genetic disease ISO RGD:732908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11729468 GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:732908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11729468 GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 11729468 GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 11729481 SEC22A SEC22 homolog A, vesicle trafficking protein gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1344636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 11729481 SEC22A SEC22 homolog A, vesicle trafficking protein gene DOID:630 genetic disease ISO RGD:1344636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11729481 SEC22A SEC22 homolog A, vesicle trafficking protein gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1344636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 11729481 SEC22A SEC22 homolog A, vesicle trafficking protein gene DOID:9270 alkaptonuria ISO RGD:1344636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11729498 SASH3 SAM and SH3 domain containing 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11729498 SASH3 SAM and SH3 domain containing 3 gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:1353862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:22796527|PMID:24357419|PMID:28492532 11729498 SASH3 SAM and SH3 domain containing 3 gene DOID:1056 oculocerebrorenal syndrome ISO RGD:1353862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lowe syndrome PMID:22965764|PMID:28492532 11729498 SASH3 SAM and SH3 domain containing 3 gene DOID:12849 autistic disorder ISO RGD:1353862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11729498 SASH3 SAM and SH3 domain containing 3 gene DOID:630 genetic disease ISO RGD:1353862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11729498 SASH3 SAM and SH3 domain containing 3 gene DOID:9000339 Immunodeficiency 102 ISO RGD:1353862 D RGD:7240710 20220608 OMIM 11729498 SASH3 SAM and SH3 domain containing 3 gene DOID:9000339 Immunodeficiency 102 ISO RGD:1353862 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Immunodeficiency 102 PMID:33876203|PMID:35464398 11729498 SASH3 SAM and SH3 domain containing 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353862 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11729523 CD2AP CD2 associated protein gene DOID:0080600 COVID-19 ISO RGD:1347906 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11729523 CD2AP CD2 associated protein gene DOID:0112245 focal segmental glomerulosclerosis 3 ISO RGD:1347906 D RGD:7240710 20180307 OMIM 11729523 CD2AP CD2 associated protein gene DOID:0112245 focal segmental glomerulosclerosis 3 ISO RGD:1347906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 3, susceptibility to PMID:10514378|PMID:17713465|PMID:18443213|PMID:19131354|PMID:22971997|PMID:24033266|PMID:25741868|PMID:26346198|PMID:28492532|PMID:30406062|PMID:30612599|PMID:33712733 11729523 CD2AP CD2 associated protein gene DOID:10283 prostate cancer ISO RGD:1347906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:28492532 11729523 CD2AP CD2 associated protein gene DOID:10652 Alzheimer's disease ISO RGD:1347906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21460840|PMID:21460841|PMID:30320580 11729523 CD2AP CD2 associated protein gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1347906 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868|PMID:28492532 11729523 CD2AP CD2 associated protein gene DOID:557 kidney disease ISO RGD:1347906 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 11729523 CD2AP CD2 associated protein gene DOID:630 genetic disease ISO RGD:1347906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11729523 CD2AP CD2 associated protein gene DOID:783 end stage renal disease ISO RGD:1550249 D RGD:9068941 20220825 MouseDO 11729523 CD2AP CD2 associated protein gene DOID:9004009 Reperfusion Injury ISO RGD:727803 D RGD:9068941 20200609 RGD PMID:16088078|REF_RGD_ID:1581187 11729551 RAB2B RAB2B, member RAS oncogene family gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1319277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:11528500|PMID:23105016|PMID:28492532 11729551 RAB2B RAB2B, member RAS oncogene family gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1319277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 11729551 RAB2B RAB2B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1319277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11729551 RAB2B RAB2B, member RAS oncogene family gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319277 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:732660 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:29940770|REF_RGD_ID:14985218 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:732660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:10283 prostate cancer ISO RGD:732660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:10652 Alzheimer's disease ISO RGD:732660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15750215 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:12217 Lewy body dementia ISO RGD:732660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:12932 endomyocardial fibrosis ISO RGD:732660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30450786 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:14330 Parkinson's disease ISO RGD:732660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:1520 colon carcinoma ISO RGD:732660 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:29940770|REF_RGD_ID:14985218 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:2154 nephroblastoma ISO RGD:732660 D RGD:9068941 20200609 RGD PMID:9070652|REF_RGD_ID:7242956 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:2661 myoepithelioma ISO RGD:732660 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:332 amyotrophic lateral sclerosis ISO RGD:2871 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord, astrocyte PMID:18441505|REF_RGD_ID:2311519 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:3459 breast carcinoma ISO RGD:732660 D RGD:9068941 20200609 RGD protein:increased expression:serum,urine: PMID:29940770|REF_RGD_ID:14985218 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:3827 congenital diaphragmatic hernia ISO RGD:732660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20620343|PMID:21433279 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:3910 lung adenocarcinoma ISO RGD:2871 D RGD:9068941 20200609 RGD mRNA:deletions: :c.3698_4902del, c.3366_4902del, c.3817_4697del (rat) PMID:12503077|REF_RGD_ID:1298968 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:5426 primary ovarian insufficiency ISO RGD:732660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:630 genetic disease ISO RGD:732660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:684 hepatocellular carcinoma ISO RGD:732660 D RGD:7240710 20180130 OMIM 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:684 hepatocellular carcinoma ISO RGD:732660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:25741868|PMID:9722161 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:732660 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:liver PMID:18322954|REF_RGD_ID:14985219 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:684 hepatocellular carcinoma no_association ISO RGD:732660 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity,mutations:liver: PMID:10347113|REF_RGD_ID:14985220 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:684 hepatocellular carcinoma treatment ISO RGD:732660 D RGD:9068941 20200609 RGD PMID:30720132|REF_RGD_ID:14985221 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:850 lung disease ISO RGD:732660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20620343|PMID:21433279 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:8719 in situ carcinoma ISO RGD:732660 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;DNA:loss of heterozygosity, missense mutations (human) PMID:8649861|REF_RGD_ID:2311631 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:8791 breast carcinoma in situ ISO RGD:732660 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity PMID:8649861|REF_RGD_ID:2311631 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2871 D RGD:9068941 20200609 RGD PMID:15057872|PMID:9652747|REF_RGD_ID:2311623|REF_RGD_ID:2311630 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:9002231 Fetal Growth Retardation ISO RGD:2871 D RGD:9068941 20200609 RGD mRNA:increased expresssion:fetus: PMID:1408464|REF_RGD_ID:14985247 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:732660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732661 D RGD:9068941 20200609 RGD protein:increased expression:oviduct PMID:18676006|REF_RGD_ID:2311502 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:9006487 Reoviridae Infections resistance ISO RGD:2871 D RGD:9068941 20200609 RGD PMID:15333144|REF_RGD_ID:2311622 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:9007039 Ventricular Dysfunction ISO RGD:732660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30450786 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:732660 D RGD:9068941 20200609 RGD DNA:insertion, deletion:3' utr (human) PMID:16868148|REF_RGD_ID:2311514 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:9538 multiple myeloma ISO RGD:732660 D RGD:9068941 20200609 RGD protein:increased expression:serum,urine: PMID:29940770|REF_RGD_ID:14985218 11729625 IGF2R insulin like growth factor 2 receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:732660 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:15531531|REF_RGD_ID:2311611 11729672 ZMYM2 zinc finger MYM-type containing 2 gene DOID:0070004 myeloid neoplasm ISO RGD:1317868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22875613 11729672 ZMYM2 zinc finger MYM-type containing 2 gene DOID:0080205 CAKUT ISO RGD:1317868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:25741868|PMID:32891193 11729672 ZMYM2 zinc finger MYM-type containing 2 gene DOID:1059 intellectual disability ISO RGD:1317868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 11729672 ZMYM2 zinc finger MYM-type containing 2 gene DOID:14118 familial lipoprotein lipase deficiency ISO RGD:1317868 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia, type I PMID:25741868 11729672 ZMYM2 zinc finger MYM-type containing 2 gene DOID:1826 epilepsy ISO RGD:1317868 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11729672 ZMYM2 zinc finger MYM-type containing 2 gene DOID:630 genetic disease ISO RGD:1317868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32891193 11729672 ZMYM2 zinc finger MYM-type containing 2 gene DOID:9002414 NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES ISO RGD:1317868 D RGD:7240710 20211027 OMIM 11729672 ZMYM2 zinc finger MYM-type containing 2 gene DOID:9002414 NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES ISO RGD:1317868 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities PMID:25741868|PMID:28492532|PMID:32891193 11729672 ZMYM2 zinc finger MYM-type containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317868 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11729714 FAM187B family with sequence similarity 187 member B gene DOID:0110222 Brugada syndrome 5 ISO RGD:1603571 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11729714 FAM187B family with sequence similarity 187 member B gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1603571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11729714 FAM187B family with sequence similarity 187 member B gene DOID:543 dystonia ISO RGD:1603571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11729714 FAM187B family with sequence similarity 187 member B gene DOID:630 genetic disease ISO RGD:1603571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11729720 LOC100969266 olfactory receptor 2W1 gene DOID:11372 megacolon ISO RGD:1348465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11729720 LOC100969266 olfactory receptor 2W1 gene DOID:630 genetic disease ISO RGD:1348465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11729723 ATXN2 ataxin 2 gene DOID:0050955 spinocerebellar ataxia type 2 ISO RGD:1347160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 2 PMID:25741868 11729723 ATXN2 ataxin 2 gene DOID:0050955 spinocerebellar ataxia type 2 susceptibility ISO RGD:1347160 D RGD:7240710 20230505 OMIM 11729723 ATXN2 ataxin 2 gene DOID:0060470 salt and pepper syndrome ISO RGD:1347160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GM3 synthase deficiency PMID:25741868 11729723 ATXN2 ataxin 2 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1347160 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 11729723 ATXN2 ataxin 2 gene DOID:0060892 late onset Parkinson's disease susceptibility ISO RGD:1347160 D RGD:7240710 20230505 OMIM 11729723 ATXN2 ataxin 2 gene DOID:1067 open-angle glaucoma ISO RGD:1347160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26752265 11729723 ATXN2 ataxin 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1347160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 11729723 ATXN2 ataxin 2 gene DOID:630 genetic disease ISO RGD:1347160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11729723 ATXN2 ataxin 2 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1347160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19224595|PMID:20065139 11729771 VPS35 VPS35 retromer complex component gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1350372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:25741868 11729771 VPS35 VPS35 retromer complex component gene DOID:0060892 late onset Parkinson's disease ISO RGD:1350372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset 11729771 VPS35 VPS35 retromer complex component gene DOID:0060897 Parkinson's disease 17 ISO RGD:1350372 D RGD:7240710 20180130 OMIM 11729771 VPS35 VPS35 retromer complex component gene DOID:0060897 Parkinson's disease 17 ISO RGD:1350372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinson disease 17 PMID:17576681|PMID:18342564|PMID:21763482|PMID:21763483|PMID:22517097|PMID:22801713|PMID:22991136|PMID:23125461|PMID:23408866|PMID:25288323|PMID:25533483|PMID:25741868|PMID:26251041|PMID:26321632|PMID:27385586|PMID:28166811|PMID:28492532|PMID:28796472|PMID:28862745|PMID:9536098 11729771 VPS35 VPS35 retromer complex component gene DOID:0080514 Meier-Gorlin syndrome 3 ISO RGD:1350372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 3 PMID:25741868 11729771 VPS35 VPS35 retromer complex component gene DOID:0111041 glycogen storage disease IXb ISO RGD:1350372 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 11729771 VPS35 VPS35 retromer complex component gene DOID:14330 Parkinson's disease ISO RGD:1350372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Dominant PMID:25741868 11729771 VPS35 VPS35 retromer complex component gene DOID:5419 schizophrenia ISO RGD:1350372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 11729771 VPS35 VPS35 retromer complex component gene DOID:630 genetic disease ISO RGD:1350372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11729797 DPEP3 dipeptidase 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1313538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11729797 DPEP3 dipeptidase 3 gene DOID:630 genetic disease ISO RGD:1313538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11729811 IMPACT impact RWD domain protein gene DOID:1059 intellectual disability ISO RGD:1605062 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11729811 IMPACT impact RWD domain protein gene DOID:630 genetic disease ISO RGD:1605062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11729842 GRIN2D glutamate ionotropic receptor NMDA type subunit 2D gene DOID:0080456 developmental and epileptic encephalopathy 46 ISO RGD:732718 D RGD:7240710 20190315 OMIM 11729842 GRIN2D glutamate ionotropic receptor NMDA type subunit 2D gene DOID:0080456 developmental and epileptic encephalopathy 46 ISO RGD:732718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 46 PMID:15970596|PMID:25741868|PMID:27616483|PMID:28492532|PMID:30280376|PMID:31504254|PMID:32860008|PMID:33057194 11729842 GRIN2D glutamate ionotropic receptor NMDA type subunit 2D gene DOID:1059 intellectual disability ISO RGD:732718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11729842 GRIN2D glutamate ionotropic receptor NMDA type subunit 2D gene DOID:1826 epilepsy ISO RGD:732718 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11729842 GRIN2D glutamate ionotropic receptor NMDA type subunit 2D gene DOID:5419 schizophrenia ISO RGD:732718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19856012 11729842 GRIN2D glutamate ionotropic receptor NMDA type subunit 2D gene DOID:5419 schizophrenia ISO RGD:732718 D RGD:9068941 20200609 RGD mRNA:increased expression:right hemisphere of cerebellum (human) PMID:19856012|REF_RGD_ID:2325945 11729842 GRIN2D glutamate ionotropic receptor NMDA type subunit 2D gene DOID:630 genetic disease ISO RGD:732718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11854433|PMID:15970596|PMID:17504910|PMID:18272676|PMID:25741868|PMID:28492532|PMID:30280376|PMID:31504254|PMID:9285588 11729842 GRIN2D glutamate ionotropic receptor NMDA type subunit 2D gene DOID:9002955 Nerve Degeneration ISO RGD:732718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19911010 11729842 GRIN2D glutamate ionotropic receptor NMDA type subunit 2D gene DOID:936 brain disease ISO RGD:732718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:28492532 11729859 THAP11 THAP domain containing 11 gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:1321070 D RGD:9068941 20220825 MouseDO OMIM:277400 11729859 THAP11 THAP domain containing 11 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1321069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11729859 THAP11 THAP domain containing 11 gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1321069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:25741868|PMID:28449119 11729859 THAP11 THAP domain containing 11 gene DOID:630 genetic disease ISO RGD:1321069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11729859 THAP11 THAP domain containing 11 gene DOID:655 inherited metabolic disorder ISO RGD:1321069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:25741868|PMID:28449119 11729864 GSK3A glycogen synthase kinase 3 alpha gene DOID:0050888 syndromic intellectual disability ISO RGD:731783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 11729864 GSK3A glycogen synthase kinase 3 alpha gene DOID:0080855 Parkinsonism ISO RGD:620351 D RGD:9068941 20200609 RGD protein:decreased expression:striatum PMID:18805403|REF_RGD_ID:10401814 11729864 GSK3A glycogen synthase kinase 3 alpha gene DOID:10652 Alzheimer's disease treatment ISO RGD:1618666 D RGD:9068941 20200609 RGD PMID:18410522|PMID:22623685|REF_RGD_ID:10401797|REF_RGD_ID:10401801 11729864 GSK3A glycogen synthase kinase 3 alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:731783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28701297 11729864 GSK3A glycogen synthase kinase 3 alpha gene DOID:1339 Diamond-Blackfan anemia ISO RGD:731783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11729864 GSK3A glycogen synthase kinase 3 alpha gene DOID:1342 congenital hypoplastic anemia ISO RGD:731783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11729864 GSK3A glycogen synthase kinase 3 alpha gene DOID:1596 depressive disorder ISO RGD:731783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20357757 11729864 GSK3A glycogen synthase kinase 3 alpha gene DOID:2340 craniosynostosis ISO RGD:731783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:23354439|PMID:26097063|PMID:28492532|PMID:28808027 11729864 GSK3A glycogen synthase kinase 3 alpha gene DOID:3312 bipolar disorder ISO RGD:731783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20357757 11729864 GSK3A glycogen synthase kinase 3 alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731783 D RGD:9068941 20200609 RGD PMID:12675919|REF_RGD_ID:2301741 11729864 GSK3A glycogen synthase kinase 3 alpha gene DOID:5419 schizophrenia ISO RGD:731783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11729864 GSK3A glycogen synthase kinase 3 alpha gene DOID:630 genetic disease ISO RGD:731783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11729864 GSK3A glycogen synthase kinase 3 alpha gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:731783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11729864 GSK3A glycogen synthase kinase 3 alpha gene DOID:9003816 Macrocephaly ISO RGD:731783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly 11729864 GSK3A glycogen synthase kinase 3 alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1618666 D RGD:9068941 20200609 RGD PMID:17855351|REF_RGD_ID:10401823 11729864 GSK3A glycogen synthase kinase 3 alpha gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:620351 D RGD:9068941 20200609 RGD PMID:8526919|REF_RGD_ID:10401824 11729864 GSK3A glycogen synthase kinase 3 alpha gene DOID:9269 maple syrup urine disease ISO RGD:731783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11729880 WIPF2 WAS/WASL interacting protein family member 2 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1603178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 11729880 WIPF2 WAS/WASL interacting protein family member 2 gene DOID:630 genetic disease ISO RGD:1603178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11729893 KDM6A lysine demethylase 6A gene DOID:0050834 CHARGE syndrome ISO RGD:1354488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532|PMID:29300383 11729893 KDM6A lysine demethylase 6A gene DOID:0060041 autism spectrum disorder ISO RGD:1354488 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11729893 KDM6A lysine demethylase 6A gene DOID:0060081 triple-receptor negative breast cancer ISO RGD:1354488 D RGD:9068941 20210924 RGD DNA:mutations:multiple: (human) PMID:32923150|REF_RGD_ID:150429734 11729893 KDM6A lysine demethylase 6A gene DOID:0060473 Kabuki syndrome ISO RGD:1354488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11729893 KDM6A lysine demethylase 6A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11729893 KDM6A lysine demethylase 6A gene DOID:0080006 bone development disease ISO RGD:1354488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 11729893 KDM6A lysine demethylase 6A gene DOID:0080188 chronic myelomonocytic leukemia ISO RGD:1558450 D RGD:9068941 20220825 MouseDO 11729893 KDM6A lysine demethylase 6A gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1354488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11729893 KDM6A lysine demethylase 6A gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1354488 D RGD:9068941 20210924 RGD DNA:splice-site mutation, missense mutations:splice junction, CDS:multiple: (human) PMID:23685749|REF_RGD_ID:150429732 11729893 KDM6A lysine demethylase 6A gene DOID:0080202 adenoid cystic carcinoma exacerbates ISO RGD:1354488 D RGD:9068941 20210924 RGD DNA:mutations:multiple: (human) PMID:31483290|REF_RGD_ID:150429736 11729893 KDM6A lysine demethylase 6A gene DOID:0110553 autosomal dominant nonsyndromic deafness 23 ISO RGD:1354488 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 23 PMID:25741868 11729893 KDM6A lysine demethylase 6A gene DOID:10283 prostate cancer ISO RGD:1354488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11729893 KDM6A lysine demethylase 6A gene DOID:10534 stomach cancer exacerbates ISO RGD:1354488 D RGD:9068941 20211105 RGD DNA:mutations:multiple (human) PMID:32867456|REF_RGD_ID:150520203 11729893 KDM6A lysine demethylase 6A gene DOID:1059 intellectual disability ISO RGD:1354488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24728327|PMID:25741868|PMID:28492532 11729893 KDM6A lysine demethylase 6A gene DOID:11054 urinary bladder cancer ISO RGD:1354488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 11729893 KDM6A lysine demethylase 6A gene DOID:12849 autistic disorder ISO RGD:1354488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11729893 KDM6A lysine demethylase 6A gene DOID:1324 lung cancer exacerbates ISO RGD:1558450 D RGD:9068941 20210924 RGD PMID:29632194|REF_RGD_ID:150429738 11729893 KDM6A lysine demethylase 6A gene DOID:14566 disease of cellular proliferation ISO RGD:1354488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19330029 11729893 KDM6A lysine demethylase 6A gene DOID:1612 breast cancer severity ISO RGD:1354488 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:22199269|PMID:23266085|REF_RGD_ID:9586031|REF_RGD_ID:9586731 11729893 KDM6A lysine demethylase 6A gene DOID:1996 rectum adenocarcinoma exacerbates ISO RGD:1354488 D RGD:9068941 20210924 RGD mRNA:decreased expression:rectum (human) PMID:33174323|REF_RGD_ID:150429730 11729893 KDM6A lysine demethylase 6A gene DOID:234 colon adenocarcinoma ISO RGD:1354488 D RGD:9068941 20210924 RGD DNA:hypermethylation PMID:33174323|REF_RGD_ID:150429730 11729893 KDM6A lysine demethylase 6A gene DOID:2671 transitional cell carcinoma ISO RGD:1354488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 11729893 KDM6A lysine demethylase 6A gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1354488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 11729893 KDM6A lysine demethylase 6A gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1354488 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:25151357|REF_RGD_ID:9588233 11729893 KDM6A lysine demethylase 6A gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1354488 D RGD:9068941 20210924 RGD mRNA:increased expression:esophagus (human) PMID:31804468|REF_RGD_ID:150429742 11729893 KDM6A lysine demethylase 6A gene DOID:3748 esophagus squamous cell carcinoma ameliorates ISO RGD:1354488 D RGD:9068941 20210924 RGD protein:increased expression:esophagus (human) PMID:29351209|REF_RGD_ID:150429739 11729893 KDM6A lysine demethylase 6A gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1354488 D RGD:9068941 20210924 RGD human cells in a mouse model PMID:32879445|REF_RGD_ID:150429731 11729893 KDM6A lysine demethylase 6A gene DOID:4006 bladder urothelial carcinoma susceptibility ISO RGD:1354488 D RGD:9068941 20210924 RGD associated with upper tract urothelial carcinoma; DNA:mutations:multiple: (human) PMID:30352907|REF_RGD_ID:150429735 11729893 KDM6A lysine demethylase 6A gene DOID:4450 renal cell carcinoma ISO RGD:1354488 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (human) PMID:23057811|REF_RGD_ID:9587837 11729893 KDM6A lysine demethylase 6A gene DOID:5409 lung small cell carcinoma ISO RGD:1354488 D RGD:9068941 20210924 RGD DNA:mutations:multiple: (human) PMID:31199602|REF_RGD_ID:150429733 11729893 KDM6A lysine demethylase 6A gene DOID:5844 myocardial infarction ISO RGD:9275041 D RGD:9068941 20220311 RGD mRNA:incr expr:myocardium (rat) PMID:30887465|REF_RGD_ID:151665136 11729893 KDM6A lysine demethylase 6A gene DOID:630 genetic disease ISO RGD:1354488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23076834|PMID:23913813|PMID:24728327|PMID:25741868|PMID:27302555|PMID:28492532|PMID:29758562 11729893 KDM6A lysine demethylase 6A gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1354488 D RGD:9068941 20210924 RGD human cells in a mouse model PMID:32765772|REF_RGD_ID:150429729 11729893 KDM6A lysine demethylase 6A gene DOID:7474 malignant pleural mesothelioma ISO RGD:1354488 D RGD:9068941 20210924 RGD mRNA:increased expression:mesothelium of pleural cavity (human) PMID:28197626|REF_RGD_ID:150429737 11729893 KDM6A lysine demethylase 6A gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1354488 D RGD:9068941 20210924 RGD associated with lung adenocarcinoma;protein:increased expression:brain (human) PMID:33291558|REF_RGD_ID:150429741 11729893 KDM6A lysine demethylase 6A gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1354488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:11261516|PMID:19370762|PMID:23076834|PMID:23913813|PMID:24728327|PMID:25398587|PMID:25741868|PMID:27302555|PMID:28492532|PMID:29758562 11729893 KDM6A lysine demethylase 6A gene DOID:9002165 Diabetic Nephropathies ISO RGD:1558450 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:kidney (mouse) PMID:23508046|REF_RGD_ID:9587808 11729893 KDM6A lysine demethylase 6A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11729893 KDM6A lysine demethylase 6A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11729893 KDM6A lysine demethylase 6A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:9275041 D RGD:9068941 20220311 RGD PMID:31266808|REF_RGD_ID:151665138 11729893 KDM6A lysine demethylase 6A gene DOID:9007284 Precocious Puberty ISO RGD:1354488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral precocious puberty 11729893 KDM6A lysine demethylase 6A gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1354488 D RGD:7240710 20180130 OMIM 11729893 KDM6A lysine demethylase 6A gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1354488 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki Syndrome - KDM6A | ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:11261516|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19370762|PMID:22197486|PMID:23076834|PMID:23354975|PMID:23913813|PMID:24527667|PMID:24664873|PMID:24728327|PMID:24759409|PMID:25326635|PMID:25326637|PMID:25398587|PMID:25741868|PMID:25972376|PMID:26467025|PMID:26633542|PMID:27302555|PMID:27777708|PMID:28492532|PMID:28708303|PMID:29300383|PMID:29302074|PMID:29758562|PMID:30107592|PMID:31883305|PMID:36672956|PMID:9536098 11729893 KDM6A lysine demethylase 6A gene DOID:9008086 Developmental Disabilities ISO RGD:1354488 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 11729893 KDM6A lysine demethylase 6A gene DOID:9256 colorectal cancer ameliorates ISO RGD:1354488 D RGD:9068941 20210924 RGD human cells in a mouse model PMID:31139021|REF_RGD_ID:150429740 11729893 KDM6A lysine demethylase 6A gene DOID:9952 acute lymphoblastic leukemia severity ISO RGD:1354488 D RGD:9068941 20200609 RGD DNA:mutations:cds:multiple (human) PMID:22377896|REF_RGD_ID:9684944 11729943 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1602274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11729943 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602274 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11729943 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1602274 D RGD:7240710 20180130 OMIM 11729943 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1602274 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:16199547|PMID:17576681|PMID:24033266|PMID:25029335|PMID:25401470|PMID:25741868|PMID:25790474|PMID:26235147|PMID:27613991|PMID:28087229|PMID:28484079|PMID:28492532|PMID:29367762|PMID:29694889|PMID:30038614|PMID:30463976|PMID:30794020|PMID:30919572|PMID:32673614|PMID:33014937|PMID:33217613|PMID:33488593|PMID:9536098 11729943 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:11077 brucellosis ISO RGD:1615847 D RGD:9068941 20201001 RGD PMID:29203515|PMID:30894428|REF_RGD_ID:39128199|REF_RGD_ID:39128234 11729943 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:11573 listeriosis ISO RGD:1615847 D RGD:9068941 20201001 RGD PMID:21098106|PMID:23378430|REF_RGD_ID:39128219|REF_RGD_ID:39128233 11729943 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:1395 schistosomiasis ISO RGD:1615847 D RGD:9068941 20200925 RGD PMID:32404867|REF_RGD_ID:39128195 11729943 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:1602 lymphadenitis disease_progression ISO RGD:1615847 D RGD:9068941 20201001 RGD associated with herpes simplex PMID:27511736|REF_RGD_ID:39128217 11729943 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:2043 hepatitis B ISO RGD:1615847 D RGD:9068941 20201001 RGD PMID:27312012|REF_RGD_ID:39128205 11729943 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:2365 West Nile encephalitis severity ISO RGD:1615847 D RGD:9068941 20201001 RGD PMID:31415679|REF_RGD_ID:39128224 11729943 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1602274 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:25741868|PMID:28166811|PMID:28492532 11729943 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1602274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:17576681|PMID:25741868|PMID:28087229|PMID:28492532|PMID:30919572|PMID:32673614|PMID:33488593|PMID:9536098 11729943 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1615847 D RGD:9068941 20201001 RGD associated with Haemophilus Infections;mRNA, protein:increased expression:lung (mouse) PMID:29421524|REF_RGD_ID:39128228 11729943 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1602274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25129146 11729943 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:399 tuberculosis ISO RGD:1615847 D RGD:9068941 20200925 RGD PMID:29791904|REF_RGD_ID:39128196 11729943 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1602274 D RGD:9068941 20201001 RGD mRNA:increased expression:multiple tissues (human) PMID:24367701|REF_RGD_ID:39128218 11729943 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:630 genetic disease ISO RGD:1602274 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11729943 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:9000109 Haemophilus Infections ISO RGD:1615847 D RGD:9068941 20201001 RGD mRNA,protein:increased expression:lung (mouse) PMID:29421524|REF_RGD_ID:39128228 11729943 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:9002087 Silicotuberculosis severity ISO RGD:1615847 D RGD:9068941 20200925 RGD PMID:31141689|REF_RGD_ID:39128194 11729943 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1615847 D RGD:9068941 20201001 RGD PMID:29263110|REF_RGD_ID:39128230 11729943 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11729943 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:9005106 Animal Toxoplasmosis severity ISO RGD:1615847 D RGD:9068941 20201001 RGD PMID:31416833|REF_RGD_ID:39128220 11729943 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:9005881 Chilblain Lupus 1 ISO RGD:1602274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27566796 11729943 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:1615847 D RGD:9068941 20201001 RGD PMID:31249303|REF_RGD_ID:39128225 11729943 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602274 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11729943 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1602274 D RGD:9068941 20230518 CTD CTD Direct Evidence: therapeutic PMID:36520315 11729943 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1602274 D RGD:9068941 20201001 RGD DNA:hypermethylation:promoter PMID:30593207|REF_RGD_ID:39128221 11729956 LOC100982052 olfactory receptor 4K15 gene DOID:630 genetic disease ISO RGD:1351884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11729961 SLC2A12 solute carrier family 2 member 12 gene DOID:630 genetic disease ISO RGD:1320922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11729973 VDR vitamin D receptor gene DOID:0060041 autism spectrum disorder susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs731236,rs1544410(human) PMID:26073892|REF_RGD_ID:11053054 11729973 VDR vitamin D receptor gene DOID:0060041 autism spectrum disorder susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotypes: :rs731236,,rs1544410,rs2228570(human) PMID:27155524|REF_RGD_ID:13210779 11729973 VDR vitamin D receptor gene DOID:0060643 primary sclerosing cholangitis ISO RGD:619561 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:28146070|REF_RGD_ID:14401745 11729973 VDR vitamin D receptor gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:11484 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:hepatocyte: PMID:27245430|REF_RGD_ID:14401753 11729973 VDR vitamin D receptor gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:619561 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:hepatocyte: PMID:27245430|REF_RGD_ID:14401753 11729973 VDR vitamin D receptor gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:27245430|REF_RGD_ID:14401753 11729973 VDR vitamin D receptor gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:619561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:17970811|PMID:25741868 11729973 VDR vitamin D receptor gene DOID:0080750 erythema nodosum susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;DNA:polymorphism: : rs7975232(human) PMID:24880677|REF_RGD_ID:13217417 11729973 VDR vitamin D receptor gene DOID:0080883 vitamin D-dependent rickets ISO RGD:619561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitamin D-dependent rickets PMID:25741868|PMID:28492532 11729973 VDR vitamin D receptor gene DOID:0080884 vitamin D-dependent rickets type 2A ISO RGD:619561 D RGD:7240710 20180130 OMIM 11729973 VDR vitamin D receptor gene DOID:0080884 vitamin D-dependent rickets type 2A ISO RGD:619561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D | ClinVar Annotator: match by term: PDDR IIA | ClinVar Annotator: match by term: PSEUDOVITAMIN D-DEFICIENCY, TYPE IIA | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 2A PMID:10204116|PMID:10707958|PMID:11564167|PMID:1652893|PMID:17130574|PMID:17371163|PMID:17576681|PMID:17970811|PMID:18159135|PMID:18279374|PMID:18593774|PMID:19682379|PMID:20200114|PMID:21073129|PMID:21168462|PMID:21424181|PMID:2174914|PMID:2177843|PMID:21931507|PMID:23180655|PMID:24033266|PMID:24246681|PMID:2557627|PMID:2558018|PMID:25741868|PMID:26177022|PMID:26198224|PMID:26590811|PMID:26631034|PMID:26787776|PMID:27164139|PMID:27607899|PMID:27778467|PMID:2849209|PMID:28492532|PMID:28620554|PMID:3024987|PMID:35738466|PMID:8392085|PMID:8675579|PMID:8862631|PMID:8961271|PMID:9005998|PMID:9360557|PMID:9495519|PMID:9536098 11729973 VDR vitamin D receptor gene DOID:0080884 vitamin D-dependent rickets type 2A treatment ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:24693968|REF_RGD_ID:13432060 11729973 VDR vitamin D receptor gene DOID:0080884 vitamin D-dependent rickets type 2A treatment ISO RGD:619561 D RGD:9068941 20200609 RGD PMID:24693968|REF_RGD_ID:13432060 11729973 VDR vitamin D receptor gene DOID:0080884 vitamin D-dependent rickets type 2A treatment ISO XCO:0000545 D RGD:9068941 20210402 RGD PMID:32231239|REF_RGD_ID:32716373 11729973 VDR vitamin D receptor gene DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B ISO RGD:619561 D RGD:9068941 20200609 RGD protein:increased expression:muscle: PMID:27558075|REF_RGD_ID:13210781 11729973 VDR vitamin D receptor gene DOID:10283 prostate cancer susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs11574143 (human) PMID:19255064|REF_RGD_ID:4889833 11729973 VDR vitamin D receptor gene DOID:10609 rickets ISO RGD:11484 D RGD:9068941 20220825 MouseDO OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785 11729973 VDR vitamin D receptor gene DOID:10609 rickets ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1338926|PMID:17451081|PMID:22466564 11729973 VDR vitamin D receptor gene DOID:10609 rickets ISO RGD:619561 D RGD:9068941 20200609 RGD VDDR II,OMIM:277440;DNA:point mutation:exon:p.G33D, p.R70G (human) PMID:2849209|REF_RGD_ID:1624354 11729973 VDR vitamin D receptor gene DOID:10763 hypertension ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11335187 11729973 VDR vitamin D receptor gene DOID:11202 primary hyperparathyroidism susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: :(rs1544410),(rs7975232),(rs731236)(human) PMID:9070272|REF_RGD_ID:13432057 11729973 VDR vitamin D receptor gene DOID:11476 osteoporosis ISO RGD:11484 D RGD:9068941 20220825 MouseDO OMIM:166710 11729973 VDR vitamin D receptor gene DOID:11476 osteoporosis no_association ISO RGD:619561 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:16713399|REF_RGD_ID:4889871 11729973 VDR vitamin D receptor gene DOID:11612 polycystic ovary syndrome susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotype: :rs731236(human) PMID:24078159|REF_RGD_ID:13210783 11729973 VDR vitamin D receptor gene DOID:11650 bronchopulmonary dysplasia susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD associated with Premature Birth;DNA:SNPs: :rs2228570,rs731236(human) PMID:24796371|REF_RGD_ID:13432055 11729973 VDR vitamin D receptor gene DOID:11830 myopia susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP:exon:c.2T>C (human) PMID:21897619|REF_RGD_ID:8157620 11729973 VDR vitamin D receptor gene DOID:12185 otosclerosis ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs, silent mutation:intron, cds: (rs731236, rs1544410, rs7975232) (human) PMID:23639864|REF_RGD_ID:8157627 11729973 VDR vitamin D receptor gene DOID:12185 otosclerosis no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: (rs2228570) (human) PMID:23639864|REF_RGD_ID:8157627 11729973 VDR vitamin D receptor gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: : PMID:19376604|REF_RGD_ID:14401750 11729973 VDR vitamin D receptor gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:15683428|REF_RGD_ID:14402024 11729973 VDR vitamin D receptor gene DOID:12306 vitiligo ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :multiple PMID:22738935|REF_RGD_ID:8158061 11729973 VDR vitamin D receptor gene DOID:12306 vitiligo ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs: :rs731236, rs1544410, rs7975232 (human) PMID:22762534|REF_RGD_ID:8158066 11729973 VDR vitamin D receptor gene DOID:12306 vitiligo no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs2228570 (human) PMID:22762534|REF_RGD_ID:8158066 11729973 VDR vitamin D receptor gene DOID:12361 Graves' disease ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs2228570 (human) PMID:17506475|REF_RGD_ID:8157632 11729973 VDR vitamin D receptor gene DOID:12361 Graves' disease ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1544410, rs10735810 (human) PMID:16279845|REF_RGD_ID:8158053 11729973 VDR vitamin D receptor gene DOID:12361 Graves' disease ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1544410, rs7975232 (human) PMID:11134121|REF_RGD_ID:8157628 11729973 VDR vitamin D receptor gene DOID:12361 Graves' disease ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype PMID:16100768|REF_RGD_ID:8157624 11729973 VDR vitamin D receptor gene DOID:12361 Graves' disease no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs2228570 (human) PMID:11134121|REF_RGD_ID:8157628 11729973 VDR vitamin D receptor gene DOID:12361 Graves' disease no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs: :rs731236, rs7975232 (human) PMID:16279845|REF_RGD_ID:8158053 11729973 VDR vitamin D receptor gene DOID:12466 secondary hyperparathyroidism treatment ISO RGD:3959 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:8807569|REF_RGD_ID:8158085 11729973 VDR vitamin D receptor gene DOID:13241 Behcet's disease ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs2228570 (human) PMID:21820934|REF_RGD_ID:8158077 11729973 VDR vitamin D receptor gene DOID:13241 Behcet's disease no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs1544410 (human) PMID:21820934|REF_RGD_ID:8158077 11729973 VDR vitamin D receptor gene DOID:13976 peptic esophagitis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human) PMID:25910066|REF_RGD_ID:11055189 11729973 VDR vitamin D receptor gene DOID:14330 Parkinson's disease onset ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphisms: :rs4334089, rs2853559(human) PMID:21309754|REF_RGD_ID:13217419 11729973 VDR vitamin D receptor gene DOID:14499 Fabry disease susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: : PMID:18278558|REF_RGD_ID:13432071 11729973 VDR vitamin D receptor gene DOID:14566 disease of cellular proliferation ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10389917 11729973 VDR vitamin D receptor gene DOID:1612 breast cancer ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP, repeat: :rs1544410 (human) PMID:15328186|REF_RGD_ID:8158058 11729973 VDR vitamin D receptor gene DOID:1612 breast cancer ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs731236, rs1544410, rs7975232 (human) PMID:23554871|REF_RGD_ID:8157626 11729973 VDR vitamin D receptor gene DOID:1612 breast cancer ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:20431345|REF_RGD_ID:8157634 11729973 VDR vitamin D receptor gene DOID:1612 breast cancer ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype: :multiple PMID:18419802|REF_RGD_ID:8157631 11729973 VDR vitamin D receptor gene DOID:1612 breast cancer ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:repeat PMID:11461072|REF_RGD_ID:8158054 11729973 VDR vitamin D receptor gene DOID:1612 breast cancer ISO RGD:619561 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:19331145|REF_RGD_ID:8158065 11729973 VDR vitamin D receptor gene DOID:1612 breast cancer disease_progression ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs2228570 (human) PMID:23554871|REF_RGD_ID:8157626 11729973 VDR vitamin D receptor gene DOID:1612 breast cancer disease_progression ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1544410 (human) PMID:19124512|REF_RGD_ID:8158060 11729973 VDR vitamin D receptor gene DOID:1612 breast cancer no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs2228570 (human) PMID:11461072|REF_RGD_ID:8158054 11729973 VDR vitamin D receptor gene DOID:1612 breast cancer no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1989969, rs2228570, rs11568820 (human) PMID:23300018|REF_RGD_ID:8158069 11729973 VDR vitamin D receptor gene DOID:1612 breast cancer no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs: :rs731236, rs1544410 (human) PMID:14749534|REF_RGD_ID:8157636 11729973 VDR vitamin D receptor gene DOID:1612 breast cancer onset ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:repeat, SNP, haplotype:rs7975232 (human) PMID:19588543|REF_RGD_ID:8158055 11729973 VDR vitamin D receptor gene DOID:1614 male breast cancer no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs: :rs731236, rs7975232), rs10735810 (human) PMID:22331715|REF_RGD_ID:8157630 11729973 VDR vitamin D receptor gene DOID:1712 aortic valve stenosis ISO RGD:619561 D RGD:9068941 20200609 RGD PMID:11359741|REF_RGD_ID:1580365 11729973 VDR vitamin D receptor gene DOID:1749 squamous cell carcinoma ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs1544410 (human) PMID:16950800|REF_RGD_ID:8158080 11729973 VDR vitamin D receptor gene DOID:1749 squamous cell carcinoma ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs731236, rs7975232 (human) PMID:22213323|REF_RGD_ID:8158063 11729973 VDR vitamin D receptor gene DOID:1909 melanoma disease_progression ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs:exons: (rs731236, rs2228570) (human) PMID:10690530|REF_RGD_ID:8158068 11729973 VDR vitamin D receptor gene DOID:1909 melanoma severity ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs4516035 (human) PMID:19105801|REF_RGD_ID:8158067 11729973 VDR vitamin D receptor gene DOID:1936 atherosclerosis ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:25801026|REF_RGD_ID:14402022 11729973 VDR vitamin D receptor gene DOID:2043 hepatitis B disease_progression ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:19693091|REF_RGD_ID:14402030 11729973 VDR vitamin D receptor gene DOID:2043 hepatitis B susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphisms, hapoltype: : PMID:16733893|REF_RGD_ID:14401748 11729973 VDR vitamin D receptor gene DOID:2048 autoimmune hepatitis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:15683428|REF_RGD_ID:14402024 11729973 VDR vitamin D receptor gene DOID:2377 multiple sclerosis ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25853421 11729973 VDR vitamin D receptor gene DOID:2377 multiple sclerosis ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphisms: :rs731236,rs1544410,rs7975232(human) PMID:26540116|REF_RGD_ID:11353119 11729973 VDR vitamin D receptor gene DOID:2377 multiple sclerosis no_association ISO RGD:619561 D RGD:9068941 20200609 RGD PMID:27049563|REF_RGD_ID:11530654 11729973 VDR vitamin D receptor gene DOID:2377 multiple sclerosis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphisms: :rs731236,rs7975232(human) PMID:25685788|REF_RGD_ID:13210790 11729973 VDR vitamin D receptor gene DOID:2377 multiple sclerosis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:silent mutation, haplotype:cds: (rs731236) (human) PMID:21664963|REF_RGD_ID:5147559 11729973 VDR vitamin D receptor gene DOID:2513 basal cell carcinoma ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs731236, rs7975232 (human) PMID:22213323|REF_RGD_ID:8158063 11729973 VDR vitamin D receptor gene DOID:2513 basal cell carcinoma ISO RGD:619561 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:15077124|REF_RGD_ID:8158076 11729973 VDR vitamin D receptor gene DOID:2671 transitional cell carcinoma ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16080513 11729973 VDR vitamin D receptor gene DOID:2841 asthma ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:21103062|REF_RGD_ID:4889866 11729973 VDR vitamin D receptor gene DOID:2841 asthma ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs7975232 (human) PMID:19622139|REF_RGD_ID:4889868 11729973 VDR vitamin D receptor gene DOID:2841 asthma ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:15282200|REF_RGD_ID:4889854 11729973 VDR vitamin D receptor gene DOID:2841 asthma no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:20124605|REF_RGD_ID:4889867 11729973 VDR vitamin D receptor gene DOID:2957 pulmonary tuberculosis ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:15295697|REF_RGD_ID:4889853 11729973 VDR vitamin D receptor gene DOID:2957 pulmonary tuberculosis ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, 3' UTR (human) PMID:18231846|REF_RGD_ID:4889845 11729973 VDR vitamin D receptor gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:17236578|PMID:20231985|REF_RGD_ID:4889830|REF_RGD_ID:4889849 11729973 VDR vitamin D receptor gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs:5' UTR (human) PMID:18397302|REF_RGD_ID:4889842 11729973 VDR vitamin D receptor gene DOID:3310 atopic dermatitis no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs2228570 (human) PMID:23034014|REF_RGD_ID:8157625 11729973 VDR vitamin D receptor gene DOID:3310 atopic dermatitis severity ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs731236, rs1544410, rs7975232 (human) PMID:23034014|REF_RGD_ID:8157625 11729973 VDR vitamin D receptor gene DOID:332 amyotrophic lateral sclerosis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs7975232(human) PMID:26190642|REF_RGD_ID:11560790 11729973 VDR vitamin D receptor gene DOID:3328 temporal lobe epilepsy ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18534255 11729973 VDR vitamin D receptor gene DOID:3393 coronary artery disease severity ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:9761785|REF_RGD_ID:4889864 11729973 VDR vitamin D receptor gene DOID:3491 Turner syndrome susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs7975232(human) PMID:21823528|REF_RGD_ID:13432073 11729973 VDR vitamin D receptor gene DOID:399 tuberculosis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD associated with HIV Infections;DNA:SNPs:3' UTR (human) PMID:18712587|REF_RGD_ID:4889839 11729973 VDR vitamin D receptor gene DOID:4676 uremia ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 11729973 VDR vitamin D receptor gene DOID:4914 esophagus adenocarcinoma disease_progression ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:amplication: : PMID:24951052|REF_RGD_ID:13432070 11729973 VDR vitamin D receptor gene DOID:4914 esophagus adenocarcinoma susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human) PMID:25910066|REF_RGD_ID:11055189 11729973 VDR vitamin D receptor gene DOID:5082 liver cirrhosis ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:23622244|REF_RGD_ID:14402027 11729973 VDR vitamin D receptor gene DOID:5082 liver cirrhosis severity ISO RGD:619561 D RGD:9068941 20200609 RGD PMID:30218108|REF_RGD_ID:14402031 11729973 VDR vitamin D receptor gene DOID:5082 liver cirrhosis severity ISO RGD:619561 D RGD:9068941 20200609 RGD associated with nonalcoholic fatty liver disease; DNA:SNP: :rs1544410(human) PMID:30683615|REF_RGD_ID:14401752 11729973 VDR vitamin D receptor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs:3' UTR (human) PMID:18712587|REF_RGD_ID:4889839 11729973 VDR vitamin D receptor gene DOID:552 pneumonia ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:17224129|REF_RGD_ID:4889851 11729973 VDR vitamin D receptor gene DOID:552 pneumonia susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs2239185(human) PMID:25367052|REF_RGD_ID:11074745 11729973 VDR vitamin D receptor gene DOID:630 genetic disease ISO RGD:619561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11729973 VDR vitamin D receptor gene DOID:684 hepatocellular carcinoma ISO RGD:619561 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:24033266|PMID:25741868|PMID:28492532 11729973 VDR vitamin D receptor gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic;DNA:SNP: :rs2228570(human) PMID:25541958|REF_RGD_ID:14402025 11729973 VDR vitamin D receptor gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD associated with alcoholic liver cirrhosis;DNA:haplotype:: PMID:20572305|REF_RGD_ID:14402026 11729973 VDR vitamin D receptor gene DOID:7148 rheumatoid arthritis ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs2228570 (human) PMID:21820934|REF_RGD_ID:8158077 11729973 VDR vitamin D receptor gene DOID:7148 rheumatoid arthritis no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs1544410 (human) PMID:21820934|REF_RGD_ID:8158077 11729973 VDR vitamin D receptor gene DOID:8893 psoriasis ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:silent mutation:cds: (rs731236) (human) PMID:17763859|REF_RGD_ID:8157633 11729973 VDR vitamin D receptor gene DOID:8893 psoriasis no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs:exon:multiple PMID:24320988|REF_RGD_ID:8157635 11729973 VDR vitamin D receptor gene DOID:8893 psoriasis no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs:intron, cds: (rs731236, rs1544410, rs7975232) (human) PMID:21951018|REF_RGD_ID:8158062 11729973 VDR vitamin D receptor gene DOID:8893 psoriasis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1012A>G (rs4516035) (human) PMID:24320988|REF_RGD_ID:8157635 11729973 VDR vitamin D receptor gene DOID:8893 psoriasis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:intron, cds, enhancer:multiple PMID:24055231|REF_RGD_ID:8158056 11729973 VDR vitamin D receptor gene DOID:8893 psoriasis treatment ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter, exon:-1012A>G, (rs731236, rs2228570) (human) PMID:15864137|REF_RGD_ID:8158072 11729973 VDR vitamin D receptor gene DOID:8893 psoriasis treatment ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:silent mutation:cds:pI352 (rs731236) (human) PMID:20716226|REF_RGD_ID:8158081 11729973 VDR vitamin D receptor gene DOID:8923 skin melanoma no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:19615888|PMID:22576141|REF_RGD_ID:8158071|REF_RGD_ID:8158075 11729973 VDR vitamin D receptor gene DOID:8923 skin melanoma susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:missense mutation, silent mutation: :p,M1T, p.I352 (c.1056T>C) (rs2228570, rs731236) (human) PMID:16990805|REF_RGD_ID:8157629 11729973 VDR vitamin D receptor gene DOID:8947 diabetic retinopathy ISO RGD:619561 D RGD:9068941 20200609 RGD PMID:15899948|REF_RGD_ID:1580363 11729973 VDR vitamin D receptor gene DOID:9000169 Systemic Inflammatory Response Syndrome susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD associated with pneumonia; DNA:SNP: :rs2239185(human) PMID:25367052|REF_RGD_ID:11074745 11729973 VDR vitamin D receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:619561 D RGD:9068941 20200609 RGD associated with breast cancer;DNA:SNP:intron: (rs1544410) (human) PMID:9613456|REF_RGD_ID:8158057 11729973 VDR vitamin D receptor gene DOID:9001004 Chronic Periodontitis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs731236(human) PMID:14572874|REF_RGD_ID:14402032 11729973 VDR vitamin D receptor gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:619561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: Hypophosphatemic rickets PMID:10204116|PMID:10707958|PMID:11564167|PMID:1652893|PMID:17130574|PMID:17371163|PMID:17576681|PMID:17970811|PMID:18159135|PMID:18279374|PMID:18593774|PMID:19682379|PMID:20200114|PMID:21073129|PMID:21168462|PMID:21424181|PMID:2174914|PMID:2177843|PMID:21931507|PMID:23180655|PMID:24033266|PMID:24246681|PMID:2557627|PMID:2558018|PMID:25741868|PMID:26177022|PMID:26198224|PMID:26590811|PMID:26631034|PMID:26787776|PMID:27164139|PMID:27607899|PMID:27778467|PMID:2849209|PMID:28492532|PMID:28620554|PMID:3024987|PMID:35738466|PMID:8392085|PMID:8675579|PMID:8862631|PMID:8961271|PMID:9005998|PMID:9360557|PMID:9495519|PMID:9536098 11729973 VDR vitamin D receptor gene DOID:9001738 Hypercalciuria ISO RGD:3959 D RGD:9068941 20200609 RGD protein:increased expression:kidney, small intestine PMID:19929616|REF_RGD_ID:4889914 11729973 VDR vitamin D receptor gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12446453 11729973 VDR vitamin D receptor gene DOID:9002231 Fetal Growth Retardation ISO RGD:619561 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:placenta: PMID:25716068|REF_RGD_ID:11058690 11729973 VDR vitamin D receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20347977 11729973 VDR vitamin D receptor gene DOID:9002407 Spinal Fractures susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:mutations, haplotype:intron, exon: (human) PMID:12915669|REF_RGD_ID:10045836 11729973 VDR vitamin D receptor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:21287548|REF_RGD_ID:13210791 11729973 VDR vitamin D receptor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:21318047|REF_RGD_ID:8158064 11729973 VDR vitamin D receptor gene DOID:9003386 Sunburn susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs2228570 (human) PMID:19105801|REF_RGD_ID:8158067 11729973 VDR vitamin D receptor gene DOID:9004017 Chronic Hepatitis C no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:26725771|REF_RGD_ID:14401749 11729973 VDR vitamin D receptor gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:27263300|REF_RGD_ID:14401746 11729973 VDR vitamin D receptor gene DOID:9004331 Parathyroid Neoplasms susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: :(rs1544410),(rs7975232),(rs731236)(human) PMID:9070272|REF_RGD_ID:13432057 11729973 VDR vitamin D receptor gene DOID:9004657 Weight Gain ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:30905785|REF_RGD_ID:14402029 11729973 VDR vitamin D receptor gene DOID:9004657 Weight Gain ISO RGD:619561 D RGD:9068941 20200609 RGD PMID:30905785|REF_RGD_ID:14402029 11729973 VDR vitamin D receptor gene DOID:9004914 Postmenopausal Osteoporosis treatment ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP:exon: (rs2228570) (human) PMID:16604479|REF_RGD_ID:8158082 11729973 VDR vitamin D receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:15333467|REF_RGD_ID:8158073 11729973 VDR vitamin D receptor gene DOID:9005372 Inflammation ISO RGD:619561 D RGD:9068941 20200609 RGD associated with Respiratory Syncytial Virus Infections PMID:20008294|REF_RGD_ID:4889832 11729973 VDR vitamin D receptor gene DOID:9006359 Vitamin D Deficiency ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9525346 11729973 VDR vitamin D receptor gene DOID:9006359 Vitamin D Deficiency susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD associated with nonalcoholic fatty liver disease; DNA:SNP: :rs2228570(human) PMID:30683615|REF_RGD_ID:14401752 11729973 VDR vitamin D receptor gene DOID:9006741 Acute Hepatitis treatment ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:20523341|REF_RGD_ID:14401751 11729973 VDR vitamin D receptor gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:18266602|REF_RGD_ID:4889843 11729973 VDR vitamin D receptor gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs10735810 (human) PMID:17703412|REF_RGD_ID:4889847 11729973 VDR vitamin D receptor gene DOID:9007505 Familial Hypophosphatemic Rickets ISO RGD:619561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT PMID:10204116|PMID:10707958|PMID:11564167|PMID:1652893|PMID:17130574|PMID:17371163|PMID:17576681|PMID:17970811|PMID:18159135|PMID:18279374|PMID:18593774|PMID:19682379|PMID:20200114|PMID:21073129|PMID:21168462|PMID:21424181|PMID:2174914|PMID:2177843|PMID:21931507|PMID:23180655|PMID:24033266|PMID:24246681|PMID:2557627|PMID:2558018|PMID:25741868|PMID:26177022|PMID:26198224|PMID:26590811|PMID:26631034|PMID:26787776|PMID:27164139|PMID:27607899|PMID:27778467|PMID:2849209|PMID:28492532|PMID:28620554|PMID:3024987|PMID:35738466|PMID:8392085|PMID:8675579|PMID:8862631|PMID:8961271|PMID:9005998|PMID:9360557|PMID:9495519|PMID:9536098 11729973 VDR vitamin D receptor gene DOID:9007661 Dwarfism ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs11568820(human) PMID:24015038|REF_RGD_ID:13217415 11729973 VDR vitamin D receptor gene DOID:9007661 Dwarfism treatment ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP:promoter: rs11568820(human) PMID:26400282|REF_RGD_ID:11353416 11729973 VDR vitamin D receptor gene DOID:9007692 Insulin Resistance ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:25801026|REF_RGD_ID:14402022 11729973 VDR vitamin D receptor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:11484 D RGD:9068941 20200609 RGD mRNA,protein:increased expression, activity:heart: PMID:25365634|REF_RGD_ID:13432076 11729973 VDR vitamin D receptor gene DOID:9008914 Lead Poisoning ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20692022|PMID:23433214 11729973 VDR vitamin D receptor gene DOID:9008939 Breast Neoplasms ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16280049|PMID:22892281 11729973 VDR vitamin D receptor gene DOID:9065 leishmaniasis ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:17551101|REF_RGD_ID:8158083 11729973 VDR vitamin D receptor gene DOID:9206 Barrett's esophagus susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human) PMID:25910066|REF_RGD_ID:11055189 11729973 VDR vitamin D receptor gene DOID:9351 diabetes mellitus no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs: :rs731236, rs1544410, rs7975232 (human) PMID:22856230|REF_RGD_ID:8158070 11729973 VDR vitamin D receptor gene DOID:9446 cholangitis ISO RGD:619561 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver PMID:28146070|REF_RGD_ID:14401745 11729973 VDR vitamin D receptor gene DOID:9452 fatty liver disease ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:30905785|REF_RGD_ID:14402029 11729973 VDR vitamin D receptor gene DOID:9452 fatty liver disease ISO RGD:619561 D RGD:9068941 20200609 RGD PMID:30905785|REF_RGD_ID:14402029 11729973 VDR vitamin D receptor gene DOID:987 alopecia ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:11713240|REF_RGD_ID:8157637 11729973 VDR vitamin D receptor gene DOID:987 alopecia ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1338926|PMID:22466564 11729973 VDR vitamin D receptor gene DOID:987 alopecia ISO RGD:619561 D RGD:9068941 20200609 RGD PMID:11713240|REF_RGD_ID:8157637 11729995 B3GNT3 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 gene DOID:630 genetic disease ISO RGD:1313012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730012 ADGRG7 adhesion G protein-coupled receptor G7 gene DOID:630 genetic disease ISO RGD:1316279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730012 ADGRG7 adhesion G protein-coupled receptor G7 gene DOID:684 hepatocellular carcinoma ISO RGD:1316279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11730035 MGST1 microsomal glutathione S-transferase 1 gene DOID:0080600 COVID-19 ISO RGD:737343 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11730035 MGST1 microsomal glutathione S-transferase 1 gene DOID:1289 neurodegenerative disease ISO RGD:737343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 11730035 MGST1 microsomal glutathione S-transferase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 11730035 MGST1 microsomal glutathione S-transferase 1 gene DOID:630 genetic disease ISO RGD:737343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730056 FBXO38 F-box protein 38 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1322999 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11730056 FBXO38 F-box protein 38 gene DOID:0111206 distal hereditary motor neuronopathy type 2 ISO RGD:1322999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 PMID:16199547|PMID:17576681|PMID:24207122|PMID:25741868|PMID:28166811|PMID:28492532|PMID:31420593|PMID:32579787|PMID:7723957|PMID:9536098 11730056 FBXO38 F-box protein 38 gene DOID:0111210 distal hereditary motor neuronopathy type 2D ISO RGD:1322999 D RGD:7240710 20180130 OMIM 11730056 FBXO38 F-box protein 38 gene DOID:0111210 distal hereditary motor neuronopathy type 2D ISO RGD:1322999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2D PMID:24207122|PMID:25741868|PMID:28492532|PMID:31420593|PMID:32579787|PMID:7723957 11730056 FBXO38 F-box protein 38 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1322999 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:28492532 11730056 FBXO38 F-box protein 38 gene DOID:12377 spinal muscular atrophy ISO RGD:1322999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:28492532 11730056 FBXO38 F-box protein 38 gene DOID:630 genetic disease ISO RGD:1322999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28106320|PMID:28492532|PMID:9536098 11730056 FBXO38 F-box protein 38 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11730056 FBXO38 F-box protein 38 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322999 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11730082 RAB1A RAB1A, member RAS oncogene family gene DOID:12930 dilated cardiomyopathy ISO RGD:731304 D RGD:9068941 20220825 MouseDO 11730082 RAB1A RAB1A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1350604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730092 NTF3 neurotrophin 3 gene DOID:0050989 episodic ataxia type 1 ISO RGD:732368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 11730092 NTF3 neurotrophin 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:732368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11730092 NTF3 neurotrophin 3 gene DOID:0110106 atrial heart septal defect 1 ISO RGD:732369 D RGD:9068941 20220825 MouseDO OMIM:108800 11730092 NTF3 neurotrophin 3 gene DOID:10487 Hirschsprung's disease ISO RGD:732368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 11730092 NTF3 neurotrophin 3 gene DOID:10652 Alzheimer's disease ISO RGD:732368 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G63E (human) PMID:9502217|REF_RGD_ID:1358754 11730092 NTF3 neurotrophin 3 gene DOID:10908 hydrocephalus ISO RGD:732368 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:11580868|REF_RGD_ID:1358755 11730092 NTF3 neurotrophin 3 gene DOID:12849 autistic disorder ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16289943 11730092 NTF3 neurotrophin 3 gene DOID:13406 pulmonary sarcoidosis ISO RGD:732368 D RGD:9068941 20200609 RGD PMID:16315781|REF_RGD_ID:4891110 11730092 NTF3 neurotrophin 3 gene DOID:13406 pulmonary sarcoidosis disease_progression ISO RGD:732368 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:21059230|REF_RGD_ID:5144061 11730092 NTF3 neurotrophin 3 gene DOID:14250 Down syndrome ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16289943 11730092 NTF3 neurotrophin 3 gene DOID:1824 status epilepticus ISO RGD:619728 D RGD:9068941 20210205 RGD RNA:decreased expression: hippocampus PMID:22019057|REF_RGD_ID:41404707 11730092 NTF3 neurotrophin 3 gene DOID:1824 status epilepticus ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8635431 11730092 NTF3 neurotrophin 3 gene DOID:2841 asthma ISO RGD:732368 D RGD:9068941 20200609 RGD PMID:11737043|REF_RGD_ID:4891123 11730092 NTF3 neurotrophin 3 gene DOID:2841 asthma ISO RGD:732369 D RGD:9068941 20200609 RGD protein:increased expression:lung, serum PMID:17497413|REF_RGD_ID:4891068 11730092 NTF3 neurotrophin 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732368 D RGD:9068941 20200609 RGD mRNA:decreased expression:bronchus PMID:15843147|REF_RGD_ID:4891120 11730092 NTF3 neurotrophin 3 gene DOID:5419 schizophrenia ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572319 11730092 NTF3 neurotrophin 3 gene DOID:630 genetic disease ISO RGD:732368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730092 NTF3 neurotrophin 3 gene DOID:6419 tetralogy of Fallot ISO RGD:732369 D RGD:9068941 20220825 MouseDO OMIM:187500 11730092 NTF3 neurotrophin 3 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023256 11730092 NTF3 neurotrophin 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:732368 D RGD:9068941 20200609 RGD PMID:16022868|REF_RGD_ID:4891112 11730092 NTF3 neurotrophin 3 gene DOID:9002211 Hyperalgesia ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15659614 11730092 NTF3 neurotrophin 3 gene DOID:9002955 Nerve Degeneration ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8921280|PMID:8978711 11730092 NTF3 neurotrophin 3 gene DOID:9004538 Hearing Loss ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18024279 11730092 NTF3 neurotrophin 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:732368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11730092 NTF3 neurotrophin 3 gene DOID:9743 diabetic neuropathy ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11779407 11730101 SPINK9 serine peptidase inhibitor Kazal type 9 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603723 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11730101 SPINK9 serine peptidase inhibitor Kazal type 9 gene DOID:630 genetic disease ISO RGD:1603723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730101 SPINK9 serine peptidase inhibitor Kazal type 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11730101 SPINK9 serine peptidase inhibitor Kazal type 9 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603723 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11730109 TMEM108 transmembrane protein 108 gene DOID:12712 nephronophthisis ISO RGD:1604309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:18371931|PMID:23559409|PMID:28492532 11730109 TMEM108 transmembrane protein 108 gene DOID:630 genetic disease ISO RGD:1604309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730109 TMEM108 transmembrane protein 108 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1604309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 11730109 TMEM108 transmembrane protein 108 gene DOID:9270 alkaptonuria ISO RGD:1604309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11730135 CCDC107 coiled-coil domain containing 107 gene DOID:0050640 anauxetic dysplasia 1 ISO RGD:1605844 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia 1 PMID:10026268|PMID:11207361|PMID:11940090|PMID:12107819|PMID:12888988|PMID:14569119|PMID:16097009|PMID:16254002|PMID:16838329|PMID:17701897|PMID:25741868|PMID:28094436|PMID:28492532|PMID:8034306|PMID:9156319 11730135 CCDC107 coiled-coil domain containing 107 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1605844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11730135 CCDC107 coiled-coil domain containing 107 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1605844 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11730135 CCDC107 coiled-coil domain containing 107 gene DOID:0080942 anauxetic dysplasia ISO RGD:1605844 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:10026268|PMID:11207361|PMID:11940090|PMID:12107819|PMID:12888988|PMID:14569119|PMID:16097009|PMID:16254002|PMID:16838329|PMID:17701897|PMID:25741868|PMID:28094436|PMID:28492532|PMID:8034306|PMID:9156319 11730135 CCDC107 coiled-coil domain containing 107 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1605844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11730135 CCDC107 coiled-coil domain containing 107 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1605844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11730135 CCDC107 coiled-coil domain containing 107 gene DOID:14773 cartilage-hair hypoplasia ISO RGD:1605844 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, McKusick type PMID:10026268|PMID:11207361|PMID:11940090|PMID:12107819|PMID:12888988|PMID:14569119|PMID:16097009|PMID:16254002|PMID:16838329|PMID:17701897|PMID:25741868|PMID:28094436|PMID:28492532|PMID:8034306|PMID:9156319 11730135 CCDC107 coiled-coil domain containing 107 gene DOID:630 genetic disease ISO RGD:1605844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730135 CCDC107 coiled-coil domain containing 107 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1605844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11730135 CCDC107 coiled-coil domain containing 107 gene DOID:9007249 Metaphyseal Dysplasia without Hypotrichosis ISO RGD:1605844 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Metaphyseal dysplasia without hypotrichosis PMID:10026268|PMID:11207361|PMID:11940090|PMID:12107819|PMID:12888988|PMID:14569119|PMID:16097009|PMID:16254002|PMID:16838329|PMID:17701897|PMID:25741868|PMID:28094436|PMID:28492532|PMID:8034306|PMID:9156319 11730135 CCDC107 coiled-coil domain containing 107 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11730135 CCDC107 coiled-coil domain containing 107 gene DOID:9870 galactosemia ISO RGD:1605844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11730149 SLC44A5 solute carrier family 44 member 5 gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:1604721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:28492532 11730149 SLC44A5 solute carrier family 44 member 5 gene DOID:630 genetic disease ISO RGD:1604721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730181 MFSD9 major facilitator superfamily domain containing 9 gene DOID:630 genetic disease ISO RGD:1606209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730203 MAFG MAF bZIP transcription factor G gene DOID:0080600 COVID-19 ISO RGD:1352039 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11730203 MAFG MAF bZIP transcription factor G gene DOID:1852 intrahepatic cholestasis ISO RGD:1352039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20146260 11730203 MAFG MAF bZIP transcription factor G gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1352039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11730203 MAFG MAF bZIP transcription factor G gene DOID:630 genetic disease ISO RGD:1352039 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730213 ZBTB12 zinc finger and BTB domain containing 12 gene DOID:0050553 JMP syndrome ISO RGD:1342499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11730213 ZBTB12 zinc finger and BTB domain containing 12 gene DOID:630 genetic disease ISO RGD:1342499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730220 SMIM10 small integral membrane protein 10 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:5488264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11730220 SMIM10 small integral membrane protein 10 gene DOID:12849 autistic disorder ISO RGD:5488264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11730220 SMIM10 small integral membrane protein 10 gene DOID:630 genetic disease ISO RGD:5488264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730225 CPB1 carboxypeptidase B1 gene DOID:0050579 glycogen storage disease XV ISO RGD:737246 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 11730225 CPB1 carboxypeptidase B1 gene DOID:630 genetic disease ISO RGD:737246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730240 IGF2BP3 insulin like growth factor 2 mRNA binding protein 3 gene DOID:0070297 primary microcephaly ISO RGD:1606570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:25741868 11730240 IGF2BP3 insulin like growth factor 2 mRNA binding protein 3 gene DOID:1790 malignant mesothelioma ISO RGD:1606570 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23621518 11730240 IGF2BP3 insulin like growth factor 2 mRNA binding protein 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11730240 IGF2BP3 insulin like growth factor 2 mRNA binding protein 3 gene DOID:630 genetic disease ISO RGD:1606570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730240 IGF2BP3 insulin like growth factor 2 mRNA binding protein 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1606570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11730240 IGF2BP3 insulin like growth factor 2 mRNA binding protein 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11730240 IGF2BP3 insulin like growth factor 2 mRNA binding protein 3 gene DOID:9001834 Peritoneal Neoplasms ISO RGD:1606570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23621518 11730262 B3GALT5 beta-1,3-galactosyltransferase 5 gene DOID:12849 autistic disorder ISO RGD:1315510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11730262 B3GALT5 beta-1,3-galactosyltransferase 5 gene DOID:1793 pancreatic cancer ISO RGD:1315510 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:14555842|REF_RGD_ID:2317558 11730283 CNPPD1 cyclin Pas1/PHO80 domain containing 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1343498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11730283 CNPPD1 cyclin Pas1/PHO80 domain containing 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1343498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11730283 CNPPD1 cyclin Pas1/PHO80 domain containing 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1343498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11730283 CNPPD1 cyclin Pas1/PHO80 domain containing 1 gene DOID:1148 polydactyly ISO RGD:1343498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 11730283 CNPPD1 cyclin Pas1/PHO80 domain containing 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1343498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11730283 CNPPD1 cyclin Pas1/PHO80 domain containing 1 gene DOID:630 genetic disease ISO RGD:1343498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730283 CNPPD1 cyclin Pas1/PHO80 domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11730283 CNPPD1 cyclin Pas1/PHO80 domain containing 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1343498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 11730308 LOC100993343 olfactory receptor 4X1 gene DOID:1059 intellectual disability ISO RGD:1350139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11730308 LOC100993343 olfactory receptor 4X1 gene DOID:630 genetic disease ISO RGD:1350139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730312 ENG endoglin gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11730312 ENG endoglin gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1351093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile Polyposis PMID:28492532 11730312 ENG endoglin gene DOID:0050855 renal fibrosis ISO RGD:1593188 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction; mRNA, protein:increased expression:kidney (rat) PMID:16440600|REF_RGD_ID:7248781 11730312 ENG endoglin gene DOID:0050855 renal fibrosis ISO RGD:1617632 D RGD:9068941 20200609 RGD protein:altered expression:kidney (mouse) PMID:15033991|REF_RGD_ID:7248783 11730312 ENG endoglin gene DOID:0050855 renal fibrosis treatment ISO RGD:1593188 D RGD:9068941 20200609 RGD PMID:15475654|REF_RGD_ID:7248782 11730312 ENG endoglin gene DOID:0060364 Galloway-Mowat syndrome 1 ISO RGD:1351093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 PMID:12673790|PMID:15879500|PMID:21158752|PMID:23399955|PMID:24055113|PMID:25637381|PMID:25741868|PMID:28492532 11730312 ENG endoglin gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1351093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:15879500|PMID:25741868|PMID:28492532|PMID:30120215 11730312 ENG endoglin gene DOID:0060688 arteriovenous malformations of the brain disease_progression ISO RGD:1351093 D RGD:9068941 20200609 RGD DNA:polymorphism: : 207G>A(human) PMID:24876084|REF_RGD_ID:11041171 11730312 ENG endoglin gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1351093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11730312 ENG endoglin gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1351093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11730312 ENG endoglin gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1351093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 11730312 ENG endoglin gene DOID:0080718 GNE myopathy ISO RGD:1351093 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing PMID:15266205|PMID:17786384|PMID:22022569 11730312 ENG endoglin gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11730312 ENG endoglin gene DOID:10283 prostate cancer severity ISO RGD:1351093 D RGD:9068941 20200609 RGD protein:increased expression:tumor, vasculature (human) PMID:23262399|REF_RGD_ID:7248770 11730312 ENG endoglin gene DOID:1037 lymphoid leukemia disease_progression ISO RGD:1351093 D RGD:9068941 20200609 RGD PMID:25030442|REF_RGD_ID:11041170 11730312 ENG endoglin gene DOID:10591 pre-eclampsia ISO RGD:1593188 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:22763474|REF_RGD_ID:7257530 11730312 ENG endoglin gene DOID:10591 pre-eclampsia ISO RGD:1617632 D RGD:9068941 20200609 RGD protein:increased expression:plasma (mouse) PMID:23357179|REF_RGD_ID:7248768 11730312 ENG endoglin gene DOID:10591 pre-eclampsia severity ISO RGD:1351093 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23460287|REF_RGD_ID:7248767 11730312 ENG endoglin gene DOID:10591 pre-eclampsia treatment ISO RGD:1593188 D RGD:9068941 20200609 RGD PMID:22308016|REF_RGD_ID:7257524 11730312 ENG endoglin gene DOID:10591 pre-eclampsia treatment ISO RGD:1617632 D RGD:9068941 20200609 RGD PMID:20351341|REF_RGD_ID:7248777 11730312 ENG endoglin gene DOID:10763 hypertension ISO RGD:1593188 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney (rat) PMID:19829664|REF_RGD_ID:4892132 11730312 ENG endoglin gene DOID:10941 intracranial aneurysm ISO RGD:1351093 D RGD:9068941 20200609 RGD PMID:10223461|REF_RGD_ID:1580964 11730312 ENG endoglin gene DOID:11294 arteriovenous malformation ISO RGD:1617632 D RGD:9068941 20200609 RGD PMID:24520391|REF_RGD_ID:11041564 11730312 ENG endoglin gene DOID:11294 arteriovenous malformation susceptibility ISO RGD:1351093 D RGD:9068941 20200609 RGD associated with Telangiectasia, Hereditary Hemorrhagic; PMID:8728706|REF_RGD_ID:11041184 11730312 ENG endoglin gene DOID:12466 secondary hyperparathyroidism ISO RGD:1351093 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:parathyroid gland, vasculature (human) PMID:18398016|REF_RGD_ID:7248778 11730312 ENG endoglin gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1351093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:10545596|PMID:10625079|PMID:10702408|PMID:10749981|PMID:10751092|PMID:10982033|PMID:11343967|PMID:11440987|PMID:11793473|PMID:12667943|PMID:12673790|PMID:12786761|PMID:12920067|PMID:14526373|PMID:14972453|PMID:15024723|PMID:15115879|PMID:15266205|PMID:15375013|PMID:15517393|PMID:15520401|PMID:15521985|PMID:15712270|PMID:15712271|PMID:15849752|PMID:15879500|PMID:15880681|PMID:15907823|PMID:15993872|PMID:16199547|PMID:16287957|PMID:16429404|PMID:16470589|PMID:16470787|PMID:16525724|PMID:16542389|PMID:16611099|PMID:16690726|PMID:16705692|PMID:16706966|PMID:16752392|PMID:16754821|PMID:17384219|PMID:17525106|PMID:17576210|PMID:17576681|PMID:17719943|PMID:17786384|PMID:18495117|PMID:18498373|PMID:18673552|PMID:19270816|PMID:19299629|PMID:19508727|PMID:19767588|PMID:20414677|PMID:20656886|PMID:20719417|PMID:20813596|PMID:20824275|PMID:21158752|PMID:21402931|PMID:21415079|PMID:21967607|PMID:21987708|PMID:22022569|PMID:22192717|PMID:22385575|PMID:22656258|PMID:22722545|PMID:22991266|PMID:23298310|PMID:23399955|PMID:23535011|PMID:23710379|PMID:23722869|PMID:23801935|PMID:23805858|PMID:23919827|PMID:24001356|PMID:24033266|PMID:24055113|PMID:24196379|PMID:24267784|PMID:24603890|PMID:24921008|PMID:25080347|PMID:25312062|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25640679|PMID:25674101|PMID:25741868|PMID:25760803|PMID:25868896|PMID:25970827|PMID:26167679|PMID:26387786|PMID:26395556|PMID:26811476|PMID:26820968|PMID:27146957|PMID:27260700|PMID:28231770|PMID:28492532|PMID:28564608|PMID:28655553|PMID:28989145|PMID:29146883|PMID:29171923|PMID:29339534|PMID:29398197|PMID:29483005|PMID:29631995|PMID:29650961|PMID:29743074|PMID:30029678|PMID:30073140|PMID:30120215|PMID:30251589|PMID:30578383|PMID:30701124|PMID:30763665|PMID:31400083|PMID:31455059|PMID:31630786|PMID:31727138|PMID:32190976|PMID:32300199|PMID:32303606|PMID:32503579|PMID:32573726|PMID:32581362|PMID:33919892|PMID:34377910|PMID:8162075|PMID:8595426|PMID:9157574|PMID:9245986|PMID:9366572|PMID:9536098|PMID:9554745 11730312 ENG endoglin gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1351093 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler-Rendu-Weber disease PMID:10545596|PMID:10625079|PMID:10702408|PMID:10749981|PMID:10751092|PMID:10982033|PMID:11343967|PMID:11440987|PMID:11793473|PMID:12667943|PMID:12673790|PMID:12786761|PMID:12920067|PMID:14526373|PMID:14972453|PMID:15024723|PMID:15115879|PMID:15266205|PMID:15375013|PMID:15517393|PMID:15520401|PMID:15521985|PMID:15712270|PMID:15712271|PMID:15849752|PMID:15879500|PMID:15880681|PMID:15907823|PMID:15993872|PMID:16199547|PMID:16287957|PMID:16429404|PMID:16470589|PMID:16470787|PMID:16525724|PMID:16542389|PMID:16611099|PMID:16690726|PMID:16705692|PMID:16706966|PMID:16752392|PMID:16754821|PMID:17384219|PMID:17525106|PMID:17576210|PMID:17576681|PMID:17719943|PMID:17786384|PMID:18495117|PMID:18498373|PMID:18673552|PMID:19270816|PMID:19299629|PMID:19508727|PMID:19767588|PMID:20412114|PMID:20414677|PMID:20656886|PMID:20719417|PMID:20813596|PMID:20824275|PMID:21158752|PMID:21402931|PMID:21415079|PMID:21967607|PMID:21987708|PMID:22022569|PMID:22192717|PMID:22385575|PMID:22656258|PMID:22722545|PMID:22991266|PMID:23298310|PMID:23399955|PMID:23535011|PMID:23710379|PMID:23722869|PMID:23801935|PMID:23805858|PMID:23919827|PMID:24001356|PMID:24033266|PMID:24055113|PMID:24196379|PMID:24267784|PMID:24603890|PMID:24921008|PMID:25080347|PMID:25312062|PMID:25326635|PMID:25637381|PMID:25640679|PMID:25674101|PMID:25741868|PMID:25760803|PMID:25868896|PMID:25970827|PMID:26167679|PMID:26387786|PMID:26395556|PMID:26811476|PMID:26820968|PMID:27146957|PMID:27260700|PMID:28231770|PMID:28492532|PMID:28564608|PMID:28655553|PMID:28989145|PMID:29146883|PMID:29171923|PMID:29339534|PMID:29398197|PMID:29483005|PMID:29631995|PMID:29650961|PMID:29743074|PMID:30029678|PMID:30073140|PMID:30120215|PMID:30251589|PMID:30578383|PMID:30578397|PMID:30701124|PMID:30763665|PMID:31400083|PMID:31455059|PMID:31630786|PMID:31727138|PMID:32165824|PMID:32190976|PMID:32300199|PMID:32303606|PMID:32503579|PMID:32573726|PMID:32581362|PMID:33919892|PMID:34377910|PMID:8162075|PMID:8595426|PMID:9157574|PMID:9245986|PMID:9366572|PMID:9536098|PMID:9554745 11730312 ENG endoglin gene DOID:1270 hereditary hemorrhagic telangiectasia no_association ISO RGD:1351093 D RGD:9068941 20200609 RGD PMID:10899246|REF_RGD_ID:11041566 11730312 ENG endoglin gene DOID:13580 cholestasis ISO RGD:1593188 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:21146604|REF_RGD_ID:7257529 11730312 ENG endoglin gene DOID:14791 Leber congenital amaurosis ISO RGD:1351093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber's amaurosis PMID:15879500|PMID:16470589|PMID:17786384|PMID:22991266|PMID:25741868|PMID:28492532|PMID:31400083|PMID:31455059|PMID:32165824|PMID:32573726 11730312 ENG endoglin gene DOID:1485 cystic fibrosis ISO RGD:1351093 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30806029 11730312 ENG endoglin gene DOID:1612 breast cancer treatment ISO RGD:1351093 D RGD:9068941 20200609 RGD human tumor in mouse model PMID:11691802|REF_RGD_ID:7248784 11730312 ENG endoglin gene DOID:1909 melanoma treatment ISO RGD:1617632 D RGD:9068941 20200609 RGD PMID:23076642|REF_RGD_ID:7248785 11730312 ENG endoglin gene DOID:3082 interstitial lung disease ISO RGD:1351093 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Interstitial pneumonitis PMID:25741868|PMID:28492532 11730312 ENG endoglin gene DOID:3393 coronary artery disease severity ISO RGD:1351093 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:21667051|REF_RGD_ID:7248776 11730312 ENG endoglin gene DOID:3525 middle cerebral artery infarction ISO RGD:1617632 D RGD:9068941 20200609 RGD PMID:24876084|REF_RGD_ID:11041171 11730312 ENG endoglin gene DOID:4467 clear cell renal cell carcinoma severity ISO RGD:1351093 D RGD:9068941 20200609 RGD protein:decreased expression:kidney, tumor (human) PMID:16536758|REF_RGD_ID:7248780 11730312 ENG endoglin gene DOID:4467 clear cell renal cell carcinoma severity ISO RGD:1351093 D RGD:9068941 20200609 RGD protein:increased expression:tumor, vasculature (human) PMID:22204709|REF_RGD_ID:7248775 11730312 ENG endoglin gene DOID:6000 congestive heart failure ISO RGD:1593188 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle (rat) PMID:20156938|REF_RGD_ID:7257540 11730312 ENG endoglin gene DOID:6000 congestive heart failure treatment ISO RGD:1593188 D RGD:9068941 20200609 RGD PMID:20156938|REF_RGD_ID:7257540 11730312 ENG endoglin gene DOID:630 genetic disease ISO RGD:1351093 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15517393|PMID:15879500|PMID:25741868|PMID:28231770|PMID:28492532 11730312 ENG endoglin gene DOID:6432 pulmonary hypertension ISO RGD:1617632 D RGD:9068941 20200609 RGD PMID:20042709|REF_RGD_ID:11041178 11730312 ENG endoglin gene DOID:684 hepatocellular carcinoma ISO RGD:1593188 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:20368095|REF_RGD_ID:7257538 11730312 ENG endoglin gene DOID:8947 diabetic retinopathy ISO RGD:1351093 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma,vitreous body PMID:16202216|REF_RGD_ID:1580961 11730312 ENG endoglin gene DOID:9000808 Hypercholesterolemia ISO RGD:1617632 D RGD:9068941 20200609 RGD protein:increased expression, aortic root, aortic arch, endothelium (mouse) PMID:17901886|REF_RGD_ID:7257552 11730312 ENG endoglin gene DOID:9000808 Hypercholesterolemia treatment ISO RGD:1617632 D RGD:9068941 20200609 RGD PMID:17901886|REF_RGD_ID:7257552 11730312 ENG endoglin gene DOID:9000855 Experimental Radiation Injuries ISO RGD:1593188 D RGD:9068941 20200609 RGD protein:decreased expression:lung (rat) PMID:22151990|REF_RGD_ID:7257525 11730312 ENG endoglin gene DOID:9000855 Experimental Radiation Injuries ISO RGD:1617632 D RGD:9068941 20200609 RGD kidney PMID:23022174|REF_RGD_ID:7248771 11730312 ENG endoglin gene DOID:9000888 Pregnancy in Diabetics ISO RGD:1351093 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression: serum PMID:18985316|REF_RGD_ID:2313806 11730312 ENG endoglin gene DOID:9001227 Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related ISO RGD:1351093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PMID:14684682|PMID:15024723|PMID:15115879|PMID:15687131|PMID:15879500|PMID:18156574|PMID:23919827|PMID:25741868|PMID:26387786|PMID:28492532|PMID:32573726 11730312 ENG endoglin gene DOID:9001600 Wounds and Injuries disease_progression ISO RGD:1617632 D RGD:9068941 20200609 RGD PMID:23349951|REF_RGD_ID:7248769 11730312 ENG endoglin gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1351093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease PMID:10625079|PMID:15517393|PMID:15521985|PMID:15879500|PMID:16705692|PMID:18498373|PMID:19270816|PMID:21158752|PMID:22991266|PMID:23298310|PMID:23722869|PMID:24033266|PMID:25741868|PMID:25970827|PMID:26167679|PMID:26387786|PMID:28492532|PMID:29650961|PMID:30029678|PMID:32573726|PMID:32581362|PMID:33919892 11730312 ENG endoglin gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351093 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; mRNA:increased expression:kidney PMID:19395281|REF_RGD_ID:2313795 11730312 ENG endoglin gene DOID:9002350 Hereditary Hemorrhagic Telangiectasia, Type 1 ISO RGD:1351093 D RGD:7240710 20180130 OMIM 11730312 ENG endoglin gene DOID:9002350 Hereditary Hemorrhagic Telangiectasia, Type 1 ISO RGD:1351093 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Haemorrhagic telangiectasia 1 | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 PMID:10545596|PMID:10625079|PMID:10702408|PMID:10749981|PMID:10982033|PMID:11343967|PMID:11440987|PMID:11793473|PMID:12673790|PMID:12786761|PMID:12920067|PMID:14526373|PMID:14684682|PMID:15024723|PMID:15266205|PMID:15375013|PMID:15517393|PMID:15521985|PMID:15712270|PMID:15712271|PMID:15849752|PMID:15879500|PMID:15880681|PMID:15907823|PMID:15993872|PMID:16164574|PMID:16199547|PMID:16429404|PMID:16470589|PMID:16470787|PMID:16525724|PMID:16542389|PMID:16690726|PMID:16705692|PMID:16752392|PMID:16754821|PMID:17384219|PMID:17525106|PMID:17576681|PMID:17719943|PMID:17786384|PMID:18495117|PMID:18498373|PMID:18607909|PMID:18673552|PMID:19270816|PMID:19299629|PMID:19508727|PMID:19767588|PMID:20412114|PMID:20414677|PMID:20656886|PMID:20719417|PMID:20813596|PMID:20824275|PMID:21158752|PMID:21415079|PMID:21967607|PMID:22022569|PMID:22192717|PMID:22347366|PMID:22385575|PMID:22656258|PMID:22991266|PMID:23298310|PMID:23300529|PMID:23399955|PMID:23535011|PMID:23710379|PMID:23722869|PMID:23801935|PMID:24001356|PMID:24033266|PMID:24055113|PMID:24196379|PMID:24267784|PMID:24603890|PMID:24921008|PMID:25080347|PMID:25312062|PMID:25326635|PMID:25637381|PMID:25674101|PMID:25741868|PMID:25970827|PMID:2601709|PMID:26167679|PMID:26387786|PMID:26811476|PMID:27146957|PMID:28231770|PMID:28492532|PMID:28564608|PMID:28655553|PMID:28989145|PMID:29171923|PMID:29398197|PMID:29483005|PMID:29650961|PMID:29743074|PMID:30029678|PMID:30374176|PMID:30701124|PMID:31400083|PMID:31455059|PMID:31630786|PMID:31727138|PMID:32165824|PMID:32300199|PMID:32303606|PMID:32503579|PMID:32573726|PMID:32581362|PMID:33919892|PMID:34008892|PMID:34377910|PMID:34900561|PMID:8162075|PMID:9245986|PMID:9366572|PMID:9536098|PMID:9554745 11730312 ENG endoglin gene DOID:9003845 Stress Fractures disease_progression ISO RGD:1593188 D RGD:9068941 20200609 RGD protein:increased expression:ulna, vasculature (rat) PMID:23044046|REF_RGD_ID:7248788 11730312 ENG endoglin gene DOID:9005819 Hereditary Hemorrhagic Telangiectasia, Type 2 ISO RGD:1351093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oral cavity telangiectasia PMID:25741868 11730312 ENG endoglin gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1617632 D RGD:9068941 20200609 RGD PMID:20042709|REF_RGD_ID:11041178 11730312 ENG endoglin gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1593188 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (rat) PMID:16751653|REF_RGD_ID:7248779 11730312 ENG endoglin gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1617632 D RGD:9068941 20200609 RGD PMID:16751653|REF_RGD_ID:7248779 11730312 ENG endoglin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1593188 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:21146604|REF_RGD_ID:7257529 11730312 ENG endoglin gene DOID:9007536 Moyamoya Disease 2 ISO RGD:1351093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Moyamoya disease 2 PMID:25741868 11730312 ENG endoglin gene DOID:9008421 Epistaxis ISO RGD:1351093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spontaneous, recurrent epistaxis PMID:15879500|PMID:16542389|PMID:28492532|PMID:30251589 11730312 ENG endoglin gene DOID:9008939 Breast Neoplasms treatment ISO RGD:1617632 D RGD:9068941 20200609 RGD PMID:21431419|REF_RGD_ID:7257526 11730312 ENG endoglin gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1351093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:16754821|PMID:18498373|PMID:23298310|PMID:24033266|PMID:25741868|PMID:26167679|PMID:26387786|PMID:28492532|PMID:30029678 11730312 ENG endoglin gene DOID:9074 systemic lupus erythematosus ISO RGD:1351093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus PMID:17576681|PMID:28492532|PMID:32190976|PMID:9536098 11730312 ENG endoglin gene DOID:9538 multiple myeloma severity ISO RGD:1351093 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:23576184|REF_RGD_ID:11041181 11730312 ENG endoglin gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:1351093 D RGD:9068941 20200609 RGD PMID:17572488|REF_RGD_ID:11041565 11730401 DEFB118 defensin beta 118 gene DOID:630 genetic disease ISO RGD:1344518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730426 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:0050553 JMP syndrome ISO RGD:736475 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11730426 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:0060009 MHC class I deficiency ISO RGD:736475 D RGD:7240710 20180130 OMIM 11730426 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:0060009 MHC class I deficiency ISO RGD:736475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1 | ClinVar Annotator: match by term: MHC class I deficiency PMID:10074494|PMID:10074495|PMID:1570316|PMID:16299152|PMID:16624613|PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:3891604|PMID:8640228|PMID:9536098 11730426 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:10316 pneumoconiosis ISO RGD:736475 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 11730426 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:1067 open-angle glaucoma susceptibility ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:SNPs: :p. I333V, D637G (human) PMID:15887980|REF_RGD_ID:6482266 11730426 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:1205 allergic disease ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype: :p.V333I (human) PMID:11591192|REF_RGD_ID:8548785 11730426 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:1580 diffuse scleroderma susceptibility ISO RGD:736475 D RGD:9068941 20200609 RGD PMID:16112028|REF_RGD_ID:1578361 11730426 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:2841 asthma susceptibility ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:12640628|REF_RGD_ID:5147845 11730426 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:2957 pulmonary tuberculosis ISO RGD:736475 D RGD:9068941 20200609 RGD associated with HIV Infections; PMID:21843574|REF_RGD_ID:6482248 11730426 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736475 D RGD:9068941 20200609 RGD protein:decreased expression:esophagus PMID:19492245|REF_RGD_ID:6482249 11730426 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:4362 cervical cancer ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:18248301|REF_RGD_ID:6482260 11730426 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:4362 cervical cancer susceptibility ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:12648582|REF_RGD_ID:6482272 11730426 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:4483 rhinitis no_association ISO RGD:736475 D RGD:9068941 20200609 RGD PMID:12018331|REF_RGD_ID:6482274 11730426 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:4483 rhinitis susceptibility ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:17982230|REF_RGD_ID:6482262 11730426 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:5419 schizophrenia ISO RGD:736475 D RGD:9068941 20200609 RGD PMID:19217216|REF_RGD_ID:6482251 11730426 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:6196 reactive arthritis ISO RGD:736475 D RGD:9068941 20200609 RGD PMID:7748224|REF_RGD_ID:6482278 11730426 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:630 genetic disease ISO RGD:736475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11730426 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:7147 ankylosing spondylitis ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:19480848|REF_RGD_ID:6482250 11730426 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:841 extrinsic allergic alveolitis susceptibility ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:P. D637G, P661P (human) PMID:18342853|REF_RGD_ID:5147840 11730426 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:8893 psoriasis susceptibility ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:missense mutation, haplotype:cds:p.I333V (1207A>G) (human) PMID:11194890|REF_RGD_ID:8548788 11730426 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:9002304 Prostatic Neoplasms ISO RGD:736475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11730426 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:9002780 Recurrent Respiratory Papillomatosis severity ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.D637G(human) PMID:14976605|REF_RGD_ID:5147844 11730426 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:9007102 Myocardial Ischemia ISO RGD:736475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11730426 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:9007557 Laryngeal Papillomatosis ISO RGD:736475 D RGD:9068941 20200609 RGD PMID:10618282|REF_RGD_ID:5147846 11730426 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:9008163 Chronic Hepatitis B ISO RGD:736475 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood PMID:21843574|REF_RGD_ID:6482248 11730426 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:736475 D RGD:9068941 20200609 RGD PMID:9014588|REF_RGD_ID:6482277 11730426 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:9563 bronchiectasis susceptibility ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p. I333V, D637G (human) PMID:17245734|REF_RGD_ID:5147842 11730426 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:9744 type 1 diabetes mellitus ISO RGD:11387 D RGD:9068941 20200609 RGD DNA:mutation:promoter (mouse) PMID:9300732|REF_RGD_ID:2312370 11730426 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:9744 type 1 diabetes mellitus ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:insertion:intron (human) PMID:9458110|REF_RGD_ID:2312369 11730426 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:9744 type 1 diabetes mellitus ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:9129974|REF_RGD_ID:2312371 11730441 PDK4 pyruvate dehydrogenase kinase 4 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29289645 11730441 PDK4 pyruvate dehydrogenase kinase 4 gene DOID:10283 prostate cancer ISO RGD:69113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11730441 PDK4 pyruvate dehydrogenase kinase 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11730441 PDK4 pyruvate dehydrogenase kinase 4 gene DOID:630 genetic disease ISO RGD:69113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730441 PDK4 pyruvate dehydrogenase kinase 4 gene DOID:684 hepatocellular carcinoma ISO RGD:69113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28003426 11730441 PDK4 pyruvate dehydrogenase kinase 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563825 11730441 PDK4 pyruvate dehydrogenase kinase 4 gene DOID:9007102 Myocardial Ischemia ISO RGD:69113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11730441 PDK4 pyruvate dehydrogenase kinase 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:69113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21182459|PMID:31809757 11730456 FAM171B family with sequence similarity 171 member B gene DOID:630 genetic disease ISO RGD:1354368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730456 FAM171B family with sequence similarity 171 member B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11730469 USP49 ubiquitin specific peptidase 49 gene DOID:0050444 infantile Refsum disease ISO RGD:1601875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11730469 USP49 ubiquitin specific peptidase 49 gene DOID:630 genetic disease ISO RGD:1601875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730469 USP49 ubiquitin specific peptidase 49 gene DOID:905 Zellweger syndrome ISO RGD:1601875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11730501 S100B S100 calcium binding protein B gene DOID:0050073 invasive aspergillosis ISO RGD:11252 D RGD:9068941 20200609 RGD PMID:21423669|REF_RGD_ID:5508765 11730501 S100B S100 calcium binding protein B gene DOID:0050847 sleep apnea ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, hippocampus, astrocyte PMID:20002528|REF_RGD_ID:5508790 11730501 S100B S100 calcium binding protein B gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:737117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 11730501 S100B S100 calcium binding protein B gene DOID:10652 Alzheimer's disease ISO RGD:11252 D RGD:9068941 20200609 RGD PMID:21080947|REF_RGD_ID:5508775 11730501 S100B S100 calcium binding protein B gene DOID:10652 Alzheimer's disease ISO RGD:3615 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:20953641|REF_RGD_ID:5508780 11730501 S100B S100 calcium binding protein B gene DOID:10652 Alzheimer's disease severity ISO RGD:737117 D RGD:9068941 20200609 RGD PMID:19705461|PMID:20105309|REF_RGD_ID:5508787|REF_RGD_ID:5508798 11730501 S100B S100 calcium binding protein B gene DOID:10763 hypertension ISO RGD:737117 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21130083|REF_RGD_ID:5508770 11730501 S100B S100 calcium binding protein B gene DOID:11054 urinary bladder cancer ISO RGD:11252 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder urothelium PMID:17970044|REF_RGD_ID:2316906 11730501 S100B S100 calcium binding protein B gene DOID:11054 urinary bladder cancer ISO RGD:3615 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder urothelium PMID:17970044|REF_RGD_ID:2316906 11730501 S100B S100 calcium binding protein B gene DOID:11054 urinary bladder cancer ISO RGD:737117 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder urothelium PMID:17970044|REF_RGD_ID:2316906 11730501 S100B S100 calcium binding protein B gene DOID:11088 asphyxia neonatorum ISO RGD:737117 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:14707571|REF_RGD_ID:5508819 11730501 S100B S100 calcium binding protein B gene DOID:11832 visual epilepsy ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:15464860|REF_RGD_ID:5509052 11730501 S100B S100 calcium binding protein B gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:737117 D RGD:9068941 20200609 RGD PMID:20855493|REF_RGD_ID:5508781 11730501 S100B S100 calcium binding protein B gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:737117 D RGD:9068941 20210625 RGD protein:increased expression:serum (human) PMID:27929120|REF_RGD_ID:127284887 11730501 S100B S100 calcium binding protein B gene DOID:12783 migraine without aura ISO RGD:737117 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21293918|REF_RGD_ID:5508769 11730501 S100B S100 calcium binding protein B gene DOID:12849 autistic disorder ISO RGD:737117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11730501 S100B S100 calcium binding protein B gene DOID:12930 dilated cardiomyopathy ISO RGD:737117 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18068619|REF_RGD_ID:2324684 11730501 S100B S100 calcium binding protein B gene DOID:13100 intracranial vasospasm ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12186470 11730501 S100B S100 calcium binding protein B gene DOID:13413 hepatic encephalopathy ISO RGD:737117 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34792689 11730501 S100B S100 calcium binding protein B gene DOID:13564 aspergillosis ISO RGD:737117 D RGD:9068941 20200609 RGD DNA:SNP: :427C>T (human) PMID:22114731|REF_RGD_ID:8695981 11730501 S100B S100 calcium binding protein B gene DOID:14250 Down syndrome ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12888777 11730501 S100B S100 calcium binding protein B gene DOID:14330 Parkinson's disease ISO RGD:11252 D RGD:9068941 20200609 RGD PMID:21725169|REF_RGD_ID:5508763 11730501 S100B S100 calcium binding protein B gene DOID:14330 Parkinson's disease ISO RGD:737117 D RGD:9068941 20200609 RGD PMID:21402140|REF_RGD_ID:5508766 11730501 S100B S100 calcium binding protein B gene DOID:1440 Machado-Joseph disease ISO RGD:737117 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21743141|REF_RGD_ID:5508762 11730501 S100B S100 calcium binding protein B gene DOID:1596 depressive disorder ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:21843601|REF_RGD_ID:5508824 11730501 S100B S100 calcium binding protein B gene DOID:1790 malignant mesothelioma ISO RGD:737117 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:28377727 11730501 S100B S100 calcium binding protein B gene DOID:1826 epilepsy ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:21402140|REF_RGD_ID:5508766 11730501 S100B S100 calcium binding protein B gene DOID:2316 brain ischemia ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21695352|REF_RGD_ID:5508764 11730501 S100B S100 calcium binding protein B gene DOID:2366 West Nile fever ISO RGD:737117 D RGD:9068941 20200609 RGD PMID:19790244|REF_RGD_ID:5508797 11730501 S100B S100 calcium binding protein B gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:737117 D RGD:9068941 20200609 RGD protein:increased expression:brain, cerebrospinal fluid PMID:12076997|REF_RGD_ID:5508822 11730501 S100B S100 calcium binding protein B gene DOID:3213 demyelinating disease ISO RGD:3615 D RGD:9068941 20200609 RGD PMID:21885671|REF_RGD_ID:5508823 11730501 S100B S100 calcium binding protein B gene DOID:3312 bipolar disorder ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:15581912|REF_RGD_ID:5508853 11730501 S100B S100 calcium binding protein B gene DOID:3312 bipolar disorder ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15581912|PMID:16476148 11730501 S100B S100 calcium binding protein B gene DOID:4724 brain edema ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19147496|REF_RGD_ID:5508832 11730501 S100B S100 calcium binding protein B gene DOID:4724 brain edema ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19027832 11730501 S100B S100 calcium binding protein B gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:737117 D RGD:9068941 20220708 RGD protein:increased expression:intrahepatic bile duct (human) PMID:30377796|REF_RGD_ID:152998946 11730501 S100B S100 calcium binding protein B gene DOID:5154 borna disease ISO RGD:3615 D RGD:9068941 20200609 RGD protein:decreased expression:cerebellum, cerebral cortex PMID:17376896|REF_RGD_ID:5508841 11730501 S100B S100 calcium binding protein B gene DOID:5419 schizophrenia ISO RGD:737117 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19539717|REF_RGD_ID:5508799 11730501 S100B S100 calcium binding protein B gene DOID:5419 schizophrenia susceptibility ISO RGD:737117 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:3' utr, cds:5748C>T, 2757C>G (rs9722, rs1051169) (human) PMID:15670788|REF_RGD_ID:14696780 11730501 S100B S100 calcium binding protein B gene DOID:5844 myocardial infarction ISO RGD:3615 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:left ventricle myocardium, plasma PMID:19910580|REF_RGD_ID:2325647 11730501 S100B S100 calcium binding protein B gene DOID:5844 myocardial infarction ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9788975 11730501 S100B S100 calcium binding protein B gene DOID:630 genetic disease ISO RGD:737117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730501 S100B S100 calcium binding protein B gene DOID:8869 neuromyelitis optica ISO RGD:737117 D RGD:9068941 20200609 RGD PMID:21371524|REF_RGD_ID:5508767 11730501 S100B S100 calcium binding protein B gene DOID:9000794 Sporadic Creutzfeldt-Jakob Disease ISO RGD:737117 D RGD:9068941 20210625 RGD protein:increased expression:serum (human) PMID:27929120|REF_RGD_ID:127284887 11730501 S100B S100 calcium binding protein B gene DOID:9000930 Dental Pulp Exposure ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:brain, astrocyte PMID:20043976|REF_RGD_ID:5508788 11730501 S100B S100 calcium binding protein B gene DOID:9000998 Brain Injuries ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11520488|PMID:21783483 11730501 S100B S100 calcium binding protein B gene DOID:9000998 Brain Injuries severity ISO RGD:737117 D RGD:9068941 20200609 RGD PMID:21976236|REF_RGD_ID:5508761 11730501 S100B S100 calcium binding protein B gene DOID:9001686 Acute Coronary Syndrome ISO RGD:737117 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21663912|REF_RGD_ID:5508825 11730501 S100B S100 calcium binding protein B gene DOID:9002407 Spinal Fractures ISO RGD:737117 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20304889|REF_RGD_ID:5508786 11730501 S100B S100 calcium binding protein B gene DOID:9002676 Cerebral Hemorrhage ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19027832 11730501 S100B S100 calcium binding protein B gene DOID:9002676 Cerebral Hemorrhage disease_progression ISO RGD:737117 D RGD:9068941 20200609 RGD PMID:19505208|REF_RGD_ID:5508801 11730501 S100B S100 calcium binding protein B gene DOID:9003676 Brain Hypoxia-Ischemia severity ISO RGD:737117 D RGD:9068941 20200609 RGD associated with Asphyxia Neonatorum;protein:increased expression:urine PMID:14707571|REF_RGD_ID:5508819 11730501 S100B S100 calcium binding protein B gene DOID:9003676 Brain Hypoxia-Ischemia severity ISO RGD:737117 D RGD:9068941 20221020 RGD protein:increased expression:blood serum (human) PMID:29568675|REF_RGD_ID:155598592 11730501 S100B S100 calcium binding protein B gene DOID:9004009 Reperfusion Injury ISO RGD:3615 D RGD:9068941 20200609 RGD PMID:18840784|REF_RGD_ID:5508834 11730501 S100B S100 calcium binding protein B gene DOID:9004442 Diffuse Brain Injuries ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30076900 11730501 S100B S100 calcium binding protein B gene DOID:9004484 Sepsis ISO RGD:737117 D RGD:9068941 20200609 RGD PMID:19809934|REF_RGD_ID:5508796 11730501 S100B S100 calcium binding protein B gene DOID:9004871 Mercury Poisoning, Nervous System ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30076900 11730501 S100B S100 calcium binding protein B gene DOID:9005372 Inflammation ISO RGD:737117 D RGD:9068941 20200609 RGD associated with Stroke PMID:21034449|REF_RGD_ID:5508779 11730501 S100B S100 calcium binding protein B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3615 D RGD:9068941 20200609 RGD protein:altered expression:hippocampus, astrocyte PMID:18708122|REF_RGD_ID:5508836 11730501 S100B S100 calcium binding protein B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:cerebellum, cerebral cortex, hippocampus PMID:14583344|REF_RGD_ID:5508821 11730501 S100B S100 calcium binding protein B gene DOID:9006013 Hematoma ISO RGD:3615 D RGD:9068941 20200609 RGD associated with Stroke;protein:increased expression:serum PMID:19147496|REF_RGD_ID:5508832 11730501 S100B S100 calcium binding protein B gene DOID:9006013 Hematoma ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19027832 11730501 S100B S100 calcium binding protein B gene DOID:9006024 Hypotension ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17944636|REF_RGD_ID:5508837 11730501 S100B S100 calcium binding protein B gene DOID:9006205 Animal Disease Models ISO RGD:737117 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:12888777|PMID:34792689 11730501 S100B S100 calcium binding protein B gene DOID:9007096 Stroke severity ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17706250|REF_RGD_ID:5508838 11730501 S100B S100 calcium binding protein B gene DOID:9007096 Stroke severity ISO RGD:737117 D RGD:9068941 20200609 RGD PMID:19959621|REF_RGD_ID:5508793 11730501 S100B S100 calcium binding protein B gene DOID:9007502 Brain Neoplasms ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 11730501 S100B S100 calcium binding protein B gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3615 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium PMID:21663912|REF_RGD_ID:5508825 11730501 S100B S100 calcium binding protein B gene DOID:9008763 Femoral Fractures ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:14504167|REF_RGD_ID:5509053 11730501 S100B S100 calcium binding protein B gene DOID:9009161 Attention Deficit and Disruptive Behavior Disorders ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25451971 11730501 S100B S100 calcium binding protein B gene DOID:936 brain disease disease_progression ISO RGD:737117 D RGD:9068941 20200609 RGD PMID:20847541|REF_RGD_ID:5508782 11730501 S100B S100 calcium binding protein B gene DOID:9470 bacterial meningitis ISO RGD:737117 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:15105355|REF_RGD_ID:5508818 11730508 LOC100973205 olfactory receptor 51G1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1345426 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11730508 LOC100973205 olfactory receptor 51G1 gene DOID:630 genetic disease ISO RGD:1345426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730513 EEF1AKMT3 EEF1A lysine methyltransferase 3 gene DOID:6846 familial melanoma ISO RGD:1604024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 11730534 DBF4 DBF4 zinc finger gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11730534 DBF4 DBF4 zinc finger gene DOID:630 genetic disease ISO RGD:1605697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730552 UCHL3 ubiquitin C-terminal hydrolase L3 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:731673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11730552 UCHL3 ubiquitin C-terminal hydrolase L3 gene DOID:2367 neuroaxonal dystrophy ISO RGD:736277 D RGD:9068941 20200609 RGD PMID:11555633|REF_RGD_ID:1302546 11730552 UCHL3 ubiquitin C-terminal hydrolase L3 gene DOID:630 genetic disease ISO RGD:731673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730552 UCHL3 ubiquitin C-terminal hydrolase L3 gene DOID:9000123 Deglutition Disorders ISO RGD:731674 D RGD:9068941 20200609 RGD PMID:11555633|REF_RGD_ID:1302546 11730552 UCHL3 ubiquitin C-terminal hydrolase L3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 11730552 UCHL3 ubiquitin C-terminal hydrolase L3 gene DOID:9002955 Nerve Degeneration ISO RGD:731674 D RGD:9068941 20200609 RGD PMID:11555633|REF_RGD_ID:1302546 11730561 LOC100977984 RNA-binding protein 4 gene DOID:1059 intellectual disability ISO RGD:1315765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11730561 LOC100977984 RNA-binding protein 4 gene DOID:2661 myoepithelioma ISO RGD:1315765 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11730561 LOC100977984 RNA-binding protein 4 gene DOID:630 genetic disease ISO RGD:1315765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730561 LOC100977984 RNA-binding protein 4 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1315765 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11730561 LOC100977984 RNA-binding protein 4 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1315765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11730589 CENPP centromere protein P gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1603809 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 11730589 CENPP centromere protein P gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1603809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 11730589 CENPP centromere protein P gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1603809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 11730589 CENPP centromere protein P gene DOID:630 genetic disease ISO RGD:1603809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730604 C3H3orf49 chromosome 3 C3orf49 homolog gene DOID:630 genetic disease ISO RGD:1602072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730615 TLNRD1 talin rod domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1323243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11730615 TLNRD1 talin rod domain containing 1 gene DOID:2843 long QT syndrome ISO RGD:1323243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11730615 TLNRD1 talin rod domain containing 1 gene DOID:630 genetic disease ISO RGD:1323243 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730615 TLNRD1 talin rod domain containing 1 gene DOID:9256 colorectal cancer ISO RGD:1323243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11730622 CCL8 C-C motif chemokine ligand 8 gene DOID:0060496 respiratory allergy ISO RGD:1349694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085522 11730622 CCL8 C-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 ISO RGD:1349694 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11730622 CCL8 C-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 ISO RGD:1349694 D RGD:9068941 20200618 RGD protein:increased expression:serum: PMID:32416070|REF_RGD_ID:30296676 11730622 CCL8 C-C motif chemokine ligand 8 gene DOID:0081267 graft-versus-host disease ISO RGD:1617609 D RGD:9068941 20230504 RGD PMID:19571824|REF_RGD_ID:4892067 11730622 CCL8 C-C motif chemokine ligand 8 gene DOID:1205 allergic disease ISO RGD:1349694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11730622 CCL8 C-C motif chemokine ligand 8 gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:1617609 D RGD:9068941 20230504 RGD PMID:16988274|REF_RGD_ID:4892091 11730622 CCL8 C-C motif chemokine ligand 8 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1349694 D RGD:9068941 20200609 RGD PMID:20970515|REF_RGD_ID:5131087 11730622 CCL8 C-C motif chemokine ligand 8 gene DOID:4483 rhinitis ISO RGD:1349694 D RGD:9068941 20200609 RGD PMID:20625511|REF_RGD_ID:5131089 11730622 CCL8 C-C motif chemokine ligand 8 gene DOID:552 pneumonia ISO RGD:1349694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11730622 CCL8 C-C motif chemokine ligand 8 gene DOID:630 genetic disease ISO RGD:1349694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730622 CCL8 C-C motif chemokine ligand 8 gene DOID:7148 rheumatoid arthritis ISO RGD:1349694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 11730622 CCL8 C-C motif chemokine ligand 8 gene DOID:9001488 Human Influenza ISO RGD:1349694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11730622 CCL8 C-C motif chemokine ligand 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11730622 CCL8 C-C motif chemokine ligand 8 gene DOID:9007889 Nephrogenic Fibrosing Dermopathy ISO RGD:1349694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20959327 11730629 HRH1 histamine receptor H1 gene DOID:0060001 withdrawal disorder ISO RGD:736085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8870037 11730629 HRH1 histamine receptor H1 gene DOID:0060496 respiratory allergy ISO RGD:736085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12095164 11730629 HRH1 histamine receptor H1 gene DOID:1272 telangiectasis ISO RGD:736085 D RGD:9068941 20200702 CTD CTD Direct Evidence: therapeutic PMID:32061592 11730629 HRH1 histamine receptor H1 gene DOID:1936 atherosclerosis ISO RGD:736085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25020133 11730629 HRH1 histamine receptor H1 gene DOID:4481 allergic rhinitis ISO RGD:736085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23333628 11730629 HRH1 histamine receptor H1 gene DOID:4483 rhinitis ISO RGD:736085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12167471 11730629 HRH1 histamine receptor H1 gene DOID:5419 schizophrenia ISO RGD:736085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1912125 11730629 HRH1 histamine receptor H1 gene DOID:630 genetic disease ISO RGD:736085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730629 HRH1 histamine receptor H1 gene DOID:9000641 Pain ISO RGD:736085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12128009|PMID:14569158 11730629 HRH1 histamine receptor H1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11730629 HRH1 histamine receptor H1 gene DOID:9006024 Hypotension ISO RGD:736085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2105067 11730629 HRH1 histamine receptor H1 gene DOID:9006202 Pruritus ISO RGD:736085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19652466 11730629 HRH1 histamine receptor H1 gene DOID:9008511 Extravasation of Diagnostic and Therapeutic Materials ISO RGD:736085 D RGD:9068941 20200702 CTD CTD Direct Evidence: therapeutic PMID:32061592 11730639 CNNM3 cyclin and CBS domain divalent metal cation transport mediator 3 gene DOID:1059 intellectual disability ISO RGD:1317403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11730639 CNNM3 cyclin and CBS domain divalent metal cation transport mediator 3 gene DOID:5419 schizophrenia ISO RGD:1317403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11730639 CNNM3 cyclin and CBS domain divalent metal cation transport mediator 3 gene DOID:630 genetic disease ISO RGD:1317403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730655 SLC6A13 solute carrier family 6 member 13 gene DOID:630 genetic disease ISO RGD:733725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11730655 SLC6A13 solute carrier family 6 member 13 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:733725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11730678 IRF2BPL interferon regulatory factor 2 binding protein like gene DOID:0060041 autism spectrum disorder ISO RGD:1322211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11730678 IRF2BPL interferon regulatory factor 2 binding protein like gene DOID:0060224 atrial fibrillation ISO RGD:1322211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 11730678 IRF2BPL interferon regulatory factor 2 binding protein like gene DOID:0081327 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures ISO RGD:1322211 D RGD:7240710 20190315 OMIM 11730678 IRF2BPL interferon regulatory factor 2 binding protein like gene DOID:0081327 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures ISO RGD:1322211 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: IRF2BPL-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures PMID:25741868|PMID:30057031|PMID:30166628|PMID:31432588 11730678 IRF2BPL interferon regulatory factor 2 binding protein like gene DOID:0110548 autosomal dominant nonsyndromic deafness 17 ISO RGD:1322211 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 PMID:25741868 11730678 IRF2BPL interferon regulatory factor 2 binding protein like gene DOID:0111253 neurofibromatosis 1 ISO RGD:1322211 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:25741868 11730678 IRF2BPL interferon regulatory factor 2 binding protein like gene DOID:1059 intellectual disability ISO RGD:1322211 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild PMID:25741868 11730678 IRF2BPL interferon regulatory factor 2 binding protein like gene DOID:1826 epilepsy ISO RGD:1322211 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:30057031 11730678 IRF2BPL interferon regulatory factor 2 binding protein like gene DOID:607 paraplegia ISO RGD:1322211 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868 11730678 IRF2BPL interferon regulatory factor 2 binding protein like gene DOID:630 genetic disease ISO RGD:1322211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30057031 11730678 IRF2BPL interferon regulatory factor 2 binding protein like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11730678 IRF2BPL interferon regulatory factor 2 binding protein like gene DOID:9008086 Developmental Disabilities ISO RGD:1322211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11730684 PAPOLB poly(A) polymerase beta gene DOID:630 genetic disease ISO RGD:1322134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730689 LRRC57 leucine rich repeat containing 57 gene DOID:2717 Bloom syndrome ISO RGD:1602825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11730689 LRRC57 leucine rich repeat containing 57 gene DOID:630 genetic disease ISO RGD:1602825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730689 LRRC57 leucine rich repeat containing 57 gene DOID:9256 colorectal cancer ISO RGD:1602825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11730704 TTC23L tetratricopeptide repeat domain 23 like gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:1603175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:28492532 11730704 TTC23L tetratricopeptide repeat domain 23 like gene DOID:630 genetic disease ISO RGD:1603175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730704 TTC23L tetratricopeptide repeat domain 23 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11730729 LOC100983679 vesicle transport protein GOT1A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1346868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11730729 LOC100983679 vesicle transport protein GOT1A gene DOID:12849 autistic disorder ISO RGD:1346868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11730729 LOC100983679 vesicle transport protein GOT1A gene DOID:1540 parathyroid carcinoma ISO RGD:1346868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11730729 LOC100983679 vesicle transport protein GOT1A gene DOID:630 genetic disease ISO RGD:1346868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730729 LOC100983679 vesicle transport protein GOT1A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1346868 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11730729 LOC100983679 vesicle transport protein GOT1A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11730749 BDNF brain derived neurotrophic factor gene DOID:0050742 nicotine dependence ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20418890 11730749 BDNF brain derived neurotrophic factor gene DOID:0050848 obstructive sleep apnea ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:16061712|REF_RGD_ID:4891119 11730749 BDNF brain derived neurotrophic factor gene DOID:0060001 withdrawal disorder ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12574402 11730749 BDNF brain derived neurotrophic factor gene DOID:0060041 autism spectrum disorder ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24781735 11730749 BDNF brain derived neurotrophic factor gene DOID:0060041 autism spectrum disorder ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:21984201|REF_RGD_ID:12801412 11730749 BDNF brain derived neurotrophic factor gene DOID:0060180 colitis ISO RGD:10235 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion: PMID:19932037|REF_RGD_ID:8657331 11730749 BDNF brain derived neurotrophic factor gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:731027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital central hypoventilation PMID:11840487|PMID:25741868|PMID:28492532 11730749 BDNF brain derived neurotrophic factor gene DOID:0080855 Parkinsonism treatment ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:16018990|REF_RGD_ID:8657066 11730749 BDNF brain derived neurotrophic factor gene DOID:10003 sensorineural hearing loss ISO RGD:10235 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:inferior colliculus: PMID:20598895|REF_RGD_ID:8655560 11730749 BDNF brain derived neurotrophic factor gene DOID:10126 keratoconus ISO RGD:731027 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:corneal epithelium, anterior stroma of cornea: PMID:23489213|REF_RGD_ID:8655632 11730749 BDNF brain derived neurotrophic factor gene DOID:1059 intellectual disability ISO RGD:731027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11730749 BDNF brain derived neurotrophic factor gene DOID:10652 Alzheimer's disease ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:20646587|REF_RGD_ID:4891131 11730749 BDNF brain derived neurotrophic factor gene DOID:10652 Alzheimer's disease ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17344400 11730749 BDNF brain derived neurotrophic factor gene DOID:10652 Alzheimer's disease ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotypes: :196G>A (p.V66M), 270C>T, 11757G>C (human) PMID:23215636|REF_RGD_ID:10059345 11730749 BDNF brain derived neurotrophic factor gene DOID:10652 Alzheimer's disease ISO RGD:731027 D RGD:9068941 20200609 RGD protein:decreased expression:parietal cortex PMID:12654514|REF_RGD_ID:10058980 11730749 BDNF brain derived neurotrophic factor gene DOID:10652 Alzheimer's disease no_association ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V66M (human) PMID:16627933|REF_RGD_ID:10059343 11730749 BDNF brain derived neurotrophic factor gene DOID:10652 Alzheimer's disease no_association ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:polymorphisms: :196G>A (p.V66M), 270C>T (human) PMID:16565926|REF_RGD_ID:10059346 11730749 BDNF brain derived neurotrophic factor gene DOID:10652 Alzheimer's disease onset ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:SNP:CDS:rs1048218 (human) PMID:18780967|REF_RGD_ID:5508228 11730749 BDNF brain derived neurotrophic factor gene DOID:10652 Alzheimer's disease treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:24877042|REF_RGD_ID:10059402 11730749 BDNF brain derived neurotrophic factor gene DOID:1070 primary open angle glaucoma ISO RGD:731027 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:21076359|REF_RGD_ID:8655612 11730749 BDNF brain derived neurotrophic factor gene DOID:10914 amnestic disorder treatment ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:25061594|REF_RGD_ID:10059361 11730749 BDNF brain derived neurotrophic factor gene DOID:10933 obsessive-compulsive disorder ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:12836135|REF_RGD_ID:734644 11730749 BDNF brain derived neurotrophic factor gene DOID:1094 attention deficit hyperactivity disorder treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:25061595|REF_RGD_ID:10059388 11730749 BDNF brain derived neurotrophic factor gene DOID:11446 sciatic neuropathy ISO RGD:2202 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion: PMID:22309829|REF_RGD_ID:8657100 11730749 BDNF brain derived neurotrophic factor gene DOID:11446 sciatic neuropathy treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:24388817|REF_RGD_ID:10059363 11730749 BDNF brain derived neurotrophic factor gene DOID:11981 morbid obesity ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21708048 11730749 BDNF brain derived neurotrophic factor gene DOID:12689 acoustic neuroma ISO RGD:731027 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral nerve: PMID:19937367|REF_RGD_ID:8655552 11730749 BDNF brain derived neurotrophic factor gene DOID:12849 autistic disorder ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17349978|PMID:20662941 11730749 BDNF brain derived neurotrophic factor gene DOID:12858 Huntington's disease ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:19499586|REF_RGD_ID:10059353 11730749 BDNF brain derived neurotrophic factor gene DOID:12858 Huntington's disease ISO RGD:731027 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cerebral cortex PMID:18093249|REF_RGD_ID:10058981 11730749 BDNF brain derived neurotrophic factor gene DOID:12858 Huntington's disease treatment ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:17885687|REF_RGD_ID:10415531 11730749 BDNF brain derived neurotrophic factor gene DOID:12894 Sjogren's syndrome severity ISO RGD:731027 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:18830907|REF_RGD_ID:8657019 11730749 BDNF brain derived neurotrophic factor gene DOID:13399 color blindness susceptibility ISO RGD:731027 D RGD:9068941 20200609 RGD associated with Alcoholism;DNA:polymorphism:cds:p.V66M(rs6265)(human) PMID:21640793|REF_RGD_ID:8655850 11730749 BDNF brain derived neurotrophic factor gene DOID:13406 pulmonary sarcoidosis ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:16315781|REF_RGD_ID:4891110 11730749 BDNF brain derived neurotrophic factor gene DOID:13544 low tension glaucoma ISO RGD:731027 D RGD:9068941 20200609 RGD protein:increased expression:tear: PMID:19861219|REF_RGD_ID:8655604 11730749 BDNF brain derived neurotrophic factor gene DOID:14330 Parkinson's disease ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 11730749 BDNF brain derived neurotrophic factor gene DOID:14330 Parkinson's disease ISO RGD:731027 D RGD:9068941 20200609 RGD protein:decreased expression:substantia nigra pars compacta: PMID:10208589|REF_RGD_ID:8657025 11730749 BDNF brain derived neurotrophic factor gene DOID:14330 Parkinson's disease no_association ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:polymorphisms: :196G>A (p.V66M), 270C>T (human) PMID:16565926|REF_RGD_ID:10059346 11730749 BDNF brain derived neurotrophic factor gene DOID:1459 hypothyroidism ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:20600205|REF_RGD_ID:4891132 11730749 BDNF brain derived neurotrophic factor gene DOID:1470 major depressive disorder ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:21803060|REF_RGD_ID:8655887 11730749 BDNF brain derived neurotrophic factor gene DOID:1555 urticaria ISO RGD:731027 D RGD:9068941 20200609 RGD protein:increased expression:serum,skin: PMID:21676041|REF_RGD_ID:8657027 11730749 BDNF brain derived neurotrophic factor gene DOID:1561 cognitive disorder ISO RGD:731027 D RGD:9068941 20200609 RGD associated with WAGR Syndrome;DNA:haploinsufficiency: : PMID:23517654|REF_RGD_ID:8655893 11730749 BDNF brain derived neurotrophic factor gene DOID:1574 alcohol use disorder ISO RGD:2202 D RGD:9068941 20200716 RGD protein:decreased expression:plasma PMID:32135570|REF_RGD_ID:35673317 11730749 BDNF brain derived neurotrophic factor gene DOID:1596 depressive disorder ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:22097208|REF_RGD_ID:5684923 11730749 BDNF brain derived neurotrophic factor gene DOID:1596 depressive disorder ISO RGD:2202 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:20920483|REF_RGD_ID:4891127 11730749 BDNF brain derived neurotrophic factor gene DOID:1596 depressive disorder ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16330021|PMID:21945287 11730749 BDNF brain derived neurotrophic factor gene DOID:1596 depressive disorder ISO RGD:731027 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lymphocyte, platelet PMID:20227453|REF_RGD_ID:4891139 11730749 BDNF brain derived neurotrophic factor gene DOID:1596 depressive disorder treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:24128869|REF_RGD_ID:10059357 11730749 BDNF brain derived neurotrophic factor gene DOID:1679 cystitis ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:20079809|PMID:9631447|REF_RGD_ID:5684910|REF_RGD_ID:8657090 11730749 BDNF brain derived neurotrophic factor gene DOID:1686 glaucoma ISO RGD:2202 D RGD:9068941 20200609 RGD protein:decreased expression:eye: PMID:10711692|REF_RGD_ID:8655608 11730749 BDNF brain derived neurotrophic factor gene DOID:1686 glaucoma treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:21498611|REF_RGD_ID:8655886 11730749 BDNF brain derived neurotrophic factor gene DOID:1686 glaucoma treatment ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:19422885|REF_RGD_ID:8655601 11730749 BDNF brain derived neurotrophic factor gene DOID:1824 status epilepticus ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:19366663|PMID:19686240|REF_RGD_ID:4891125|REF_RGD_ID:5684912 11730749 BDNF brain derived neurotrophic factor gene DOID:1824 status epilepticus ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8635431|PMID:8821376 11730749 BDNF brain derived neurotrophic factor gene DOID:1824 status epilepticus ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:19686240|REF_RGD_ID:5684912 11730749 BDNF brain derived neurotrophic factor gene DOID:1826 epilepsy ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15282290 11730749 BDNF brain derived neurotrophic factor gene DOID:2030 anxiety disorder treatment ISO RGD:2202 D RGD:9068941 20220210 RGD PMID:25283985|REF_RGD_ID:151356735 11730749 BDNF brain derived neurotrophic factor gene DOID:2055 post-traumatic stress disorder susceptibility ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:196G>A (p.V66M) (human) PMID:23319005|REF_RGD_ID:10059367 11730749 BDNF brain derived neurotrophic factor gene DOID:2316 brain ischemia ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19922383 11730749 BDNF brain derived neurotrophic factor gene DOID:2377 multiple sclerosis onset ISO RGD:731027 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:20656764|REF_RGD_ID:5684915 11730749 BDNF brain derived neurotrophic factor gene DOID:2468 psychotic disorder ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 11730749 BDNF brain derived neurotrophic factor gene DOID:2841 asthma ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:11737043|REF_RGD_ID:4891123 11730749 BDNF brain derived neurotrophic factor gene DOID:2841 asthma ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.V66M, -270C>T (human) PMID:17584309|REF_RGD_ID:4891067 11730749 BDNF brain derived neurotrophic factor gene DOID:2841 asthma ISO RGD:731027 D RGD:9068941 20200609 RGD protein:decreased expression:blood, eosinophil PMID:12752594|REF_RGD_ID:4891122 11730749 BDNF brain derived neurotrophic factor gene DOID:2841 asthma severity ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.V66M (rs6265) (human) PMID:19895626|REF_RGD_ID:4891117 11730749 BDNF brain derived neurotrophic factor gene DOID:2841 asthma severity ISO RGD:731027 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20874832|REF_RGD_ID:4891063 11730749 BDNF brain derived neurotrophic factor gene DOID:2841 asthma susceptibility ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:SNP,haplotypes: :rs10767664,rs12273539,rs962369(human) PMID:21723144|REF_RGD_ID:8655967 11730749 BDNF brain derived neurotrophic factor gene DOID:2952 inner ear disease ISO RGD:8807547 D RGD:9068941 20200609 RGD PMID:10536212|REF_RGD_ID:11556223 11730749 BDNF brain derived neurotrophic factor gene DOID:3082 interstitial lung disease ISO RGD:731027 D RGD:9068941 20200609 RGD associated with Sjogren's Syndrome;protein:decreased expression:serum: PMID:24691584|REF_RGD_ID:8657022 11730749 BDNF brain derived neurotrophic factor gene DOID:3310 atopic dermatitis ISO RGD:731027 D RGD:9068941 20200609 RGD mRNA:decreased expression:mast cell PMID:17845420|REF_RGD_ID:8657065 11730749 BDNF brain derived neurotrophic factor gene DOID:3310 atopic dermatitis ISO RGD:731027 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:17073871|REF_RGD_ID:8657069 11730749 BDNF brain derived neurotrophic factor gene DOID:3310 atopic dermatitis no_association ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.V66M(human) PMID:19038326|REF_RGD_ID:8657067 11730749 BDNF brain derived neurotrophic factor gene DOID:3310 atopic dermatitis susceptibility ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:polymorphism::C270T(human) PMID:19522715|REF_RGD_ID:8657028 11730749 BDNF brain derived neurotrophic factor gene DOID:3312 bipolar disorder ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030|PMID:19018715 11730749 BDNF brain derived neurotrophic factor gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:20417695|REF_RGD_ID:4891138 11730749 BDNF brain derived neurotrophic factor gene DOID:3770 pulmonary fibrosis ISO RGD:731027 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:12917229|REF_RGD_ID:4891121 11730749 BDNF brain derived neurotrophic factor gene DOID:418 systemic scleroderma ISO RGD:731027 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:21085492|REF_RGD_ID:5144060 11730749 BDNF brain derived neurotrophic factor gene DOID:4483 rhinitis ISO RGD:2202 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium PMID:20464992|REF_RGD_ID:4891116 11730749 BDNF brain derived neurotrophic factor gene DOID:4483 rhinitis susceptibility ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:SNP,haplotypes: :rs10767664,rs12273539,rs962369(human) PMID:21723144|REF_RGD_ID:8655967 11730749 BDNF brain derived neurotrophic factor gene DOID:5419 schizophrenia ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12951204|PMID:14708030|PMID:17442489|PMID:18408624 11730749 BDNF brain derived neurotrophic factor gene DOID:630 genetic disease ISO RGD:731027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24048383|PMID:27699937 11730749 BDNF brain derived neurotrophic factor gene DOID:670 amphetamine abuse ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20736000 11730749 BDNF brain derived neurotrophic factor gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023256 11730749 BDNF brain derived neurotrophic factor gene DOID:8466 retinal degeneration ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:12764104|PMID:17525224|REF_RGD_ID:8655627|REF_RGD_ID:8655860 11730749 BDNF brain derived neurotrophic factor gene DOID:8466 retinal degeneration treatment ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:16123443|REF_RGD_ID:8655588 11730749 BDNF brain derived neurotrophic factor gene DOID:8466 retinal degeneration treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:12454046|REF_RGD_ID:8655652 11730749 BDNF brain derived neurotrophic factor gene DOID:863 nervous system disease ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22240983 11730749 BDNF brain derived neurotrophic factor gene DOID:8725 vascular dementia treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:24622829|REF_RGD_ID:10059369 11730749 BDNF brain derived neurotrophic factor gene DOID:8805 intermediate coronary syndrome ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:16186425|REF_RGD_ID:4891111 11730749 BDNF brain derived neurotrophic factor gene DOID:8947 diabetic retinopathy ISO RGD:2202 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expression:retina: PMID:15331553|REF_RGD_ID:8655657 11730749 BDNF brain derived neurotrophic factor gene DOID:9000039 Spinal Cord Injuries ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:19203225|REF_RGD_ID:4891066 11730749 BDNF brain derived neurotrophic factor gene DOID:9000039 Spinal Cord Injuries ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:16022868|REF_RGD_ID:4891112 11730749 BDNF brain derived neurotrophic factor gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:24551172|REF_RGD_ID:10059354 11730749 BDNF brain derived neurotrophic factor gene DOID:9000111 Radiation Injuries treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:24333433|REF_RGD_ID:10059359 11730749 BDNF brain derived neurotrophic factor gene DOID:9000217 Stomach Neoplasms ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11730749 BDNF brain derived neurotrophic factor gene DOID:9000307 Presbycusis ISO RGD:2202 D RGD:9068941 20200609 RGD mRNA:decreased expression:cochlea PMID:17168119|REF_RGD_ID:8655551 11730749 BDNF brain derived neurotrophic factor gene DOID:9000641 Pain ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:20452292|REF_RGD_ID:4891137 11730749 BDNF brain derived neurotrophic factor gene DOID:9000998 Brain Injuries ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:20544832|REF_RGD_ID:4891136 11730749 BDNF brain derived neurotrophic factor gene DOID:9000998 Brain Injuries ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:20544832|REF_RGD_ID:4891136 11730749 BDNF brain derived neurotrophic factor gene DOID:9000998 Brain Injuries ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15500971|PMID:21269288 11730749 BDNF brain derived neurotrophic factor gene DOID:9000998 Brain Injuries ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:20544832|REF_RGD_ID:4891136 11730749 BDNF brain derived neurotrophic factor gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:10235 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal dorsal horn: PMID:23466809|REF_RGD_ID:8657102 11730749 BDNF brain derived neurotrophic factor gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2202 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:fourth lumbar dorsal root ganglion: PMID:11425916|REF_RGD_ID:8657088 11730749 BDNF brain derived neurotrophic factor gene DOID:9001310 Tobacco Use Disorder ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17186223 11730749 BDNF brain derived neurotrophic factor gene DOID:9001472 Nasal Polyps ISO RGD:731027 D RGD:9068941 20200609 RGD associated with Sinusitis;protein:decreased expression:respiratory system mucosa PMID:19958603|REF_RGD_ID:4891064 11730749 BDNF brain derived neurotrophic factor gene DOID:9001725 Retina Reperfusion Injury ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:10549664|REF_RGD_ID:8655861 11730749 BDNF brain derived neurotrophic factor gene DOID:9001733 Tinnitus ISO RGD:2202 D RGD:9068941 20200609 RGD mRNA:increased expression:cochlea: PMID:18524887|REF_RGD_ID:8655535 11730749 BDNF brain derived neurotrophic factor gene DOID:9001733 Tinnitus severity ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:22281446|REF_RGD_ID:8655556 11730749 BDNF brain derived neurotrophic factor gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:polymorphisms: :196G>A (p.V66M), 11757G>C (human) PMID:22596272|REF_RGD_ID:10059351 11730749 BDNF brain derived neurotrophic factor gene DOID:9002031 Frontotemporal Lobar Degeneration no_association ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:SNP: :rs2049045 (human) PMID:22596272|REF_RGD_ID:10059351 11730749 BDNF brain derived neurotrophic factor gene DOID:9002138 Spinal Cord Reperfusion Injury treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:24361987|REF_RGD_ID:10059358 11730749 BDNF brain derived neurotrophic factor gene DOID:9002165 Diabetic Nephropathies ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:20557422|REF_RGD_ID:4891134 11730749 BDNF brain derived neurotrophic factor gene DOID:9002211 Hyperalgesia ISO RGD:10235 D RGD:9068941 20200609 RGD associated with Peripheral Nerve Injuries; PMID:12435470|REF_RGD_ID:8657101 11730749 BDNF brain derived neurotrophic factor gene DOID:9002211 Hyperalgesia ISO RGD:10235 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy; PMID:12470870|REF_RGD_ID:8657091 11730749 BDNF brain derived neurotrophic factor gene DOID:9002211 Hyperalgesia ISO RGD:2202 D RGD:9068941 20200609 RGD associated with Pancreatitis, Chronic; PMID:21499209|REF_RGD_ID:8657093 11730749 BDNF brain derived neurotrophic factor gene DOID:9002211 Hyperalgesia ISO RGD:2202 D RGD:9068941 20200609 RGD associated with Peripheral Nerve Injuries; PMID:11425916|REF_RGD_ID:8657088 11730749 BDNF brain derived neurotrophic factor gene DOID:9002211 Hyperalgesia ISO RGD:2202 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy; PMID:10779676|REF_RGD_ID:8657114 11730749 BDNF brain derived neurotrophic factor gene DOID:9002211 Hyperalgesia ISO RGD:2202 D RGD:9068941 20200609 RGD associated with inflammation;protein:increased expression:dorsal root ganglion: PMID:21958434|REF_RGD_ID:8657122 11730749 BDNF brain derived neurotrophic factor gene DOID:9002211 Hyperalgesia ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:21864655|REF_RGD_ID:8657099 11730749 BDNF brain derived neurotrophic factor gene DOID:9002669 Hypoxia ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16553631 11730749 BDNF brain derived neurotrophic factor gene DOID:9002676 Cerebral Hemorrhage ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:20818776|REF_RGD_ID:4891129 11730749 BDNF brain derived neurotrophic factor gene DOID:9002704 Leukoencephalopathies treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:24322053|REF_RGD_ID:10045369 11730749 BDNF brain derived neurotrophic factor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:23212569|REF_RGD_ID:10059360 11730749 BDNF brain derived neurotrophic factor gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:22723694|REF_RGD_ID:8655575 11730749 BDNF brain derived neurotrophic factor gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:10235 D RGD:9068941 20200609 RGD protein:increased expression:cochlea: PMID:19925854|REF_RGD_ID:8636263 11730749 BDNF brain derived neurotrophic factor gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:17275194|REF_RGD_ID:8655559 11730749 BDNF brain derived neurotrophic factor gene DOID:9002955 Nerve Degeneration ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:18313855|REF_RGD_ID:10059347 11730749 BDNF brain derived neurotrophic factor gene DOID:9002955 Nerve Degeneration ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15372491|PMID:19457078|PMID:19686240|PMID:8921280|PMID:8978711 11730749 BDNF brain derived neurotrophic factor gene DOID:9003740 Nerve Injuries ISO RGD:2202 D RGD:9068941 20200609 RGD mRNA:increased expression:geniculate ganglion: PMID:19848245|REF_RGD_ID:8655574 11730749 BDNF brain derived neurotrophic factor gene DOID:9003740 Nerve Injuries ISO RGD:2202 D RGD:9068941 20200609 RGD protein:increased expression:mylonhyoid nerve: PMID:23190308|REF_RGD_ID:8657332 11730749 BDNF brain derived neurotrophic factor gene DOID:9004009 Reperfusion Injury ISO RGD:2202 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:20554625|REF_RGD_ID:4891135 11730749 BDNF brain derived neurotrophic factor gene DOID:9004538 Hearing Loss ISO RGD:2202 D RGD:9068941 20200609 RGD mRNA:increased expression:cochlea: PMID:18524887|REF_RGD_ID:8655535 11730749 BDNF brain derived neurotrophic factor gene DOID:9004659 Respiration Disorders ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:8757249|REF_RGD_ID:8655536 11730749 BDNF brain derived neurotrophic factor gene DOID:9004866 Ataxia ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:9712667|REF_RGD_ID:8632994 11730749 BDNF brain derived neurotrophic factor gene DOID:9004964 Referred Pain ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:23313710|REF_RGD_ID:8655857 11730749 BDNF brain derived neurotrophic factor gene DOID:9005236 Drug Eruptions ISO RGD:10235 D RGD:9068941 20200609 RGD mRNA:increased expression:lymph node, ear: PMID:19904815|REF_RGD_ID:8657071 11730749 BDNF brain derived neurotrophic factor gene DOID:9005372 Inflammation ISO RGD:10235 D RGD:9068941 20200609 RGD protein:increased expression: trigeminal V ganglion PMID:20223282|REF_RGD_ID:4891140 11730749 BDNF brain derived neurotrophic factor gene DOID:9005372 Inflammation ISO RGD:2202 D RGD:9068941 20200609 RGD protein:increased expression: trigeminal V ganglion PMID:20223282|REF_RGD_ID:4891140 11730749 BDNF brain derived neurotrophic factor gene DOID:9005372 Inflammation ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21087489 11730749 BDNF brain derived neurotrophic factor gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14973246|PMID:17618281|PMID:17651427|PMID:18311559|PMID:19321768|PMID:20711185|PMID:20810894 11730749 BDNF brain derived neurotrophic factor gene DOID:9005632 Cocaine-Related Disorders severity ISO RGD:2202 D RGD:9068941 20210416 RGD PMID:23583595|REF_RGD_ID:38501054 11730749 BDNF brain derived neurotrophic factor gene DOID:9005632 Cocaine-Related Disorders susceptibility ISO RGD:2202 D RGD:9068941 20200814 RGD PMID:23583595|REF_RGD_ID:38501054 11730749 BDNF brain derived neurotrophic factor gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:24857910|REF_RGD_ID:10059399 11730749 BDNF brain derived neurotrophic factor gene DOID:9005832 Amyloid Plaques ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:15014117|REF_RGD_ID:10059349 11730749 BDNF brain derived neurotrophic factor gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:2202 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion: PMID:14615047|REF_RGD_ID:8657329 11730749 BDNF brain derived neurotrophic factor gene DOID:9006646 Metabolic Syndrome ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:11935372|REF_RGD_ID:1580935 11730749 BDNF brain derived neurotrophic factor gene DOID:9007402 Gliosis ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21087489 11730749 BDNF brain derived neurotrophic factor gene DOID:9007480 Hyperoxia ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:15821016|REF_RGD_ID:4891113 11730749 BDNF brain derived neurotrophic factor gene DOID:9007633 Body Weight ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344219|PMID:22344221 11730749 BDNF brain derived neurotrophic factor gene DOID:9007980 Sleep Deprivation treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:25450575|REF_RGD_ID:10059355 11730749 BDNF brain derived neurotrophic factor gene DOID:9008023 Memory Disorders ISO RGD:731027 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Memory impairment, susceptibility to PMID:12140781|PMID:12161822|PMID:12553913|PMID:12836135|PMID:12888803|PMID:15115760|PMID:15337662|PMID:16152572|PMID:16172806|PMID:16222333|PMID:16344533|PMID:16389585|PMID:20075215|PMID:24033266|PMID:25741868|PMID:28492532 11730749 BDNF brain derived neurotrophic factor gene DOID:9008091 Optic Nerve Injuries ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:9520478|REF_RGD_ID:8655637 11730749 BDNF brain derived neurotrophic factor gene DOID:9008091 Optic Nerve Injuries ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:11050383|REF_RGD_ID:8655586 11730749 BDNF brain derived neurotrophic factor gene DOID:9008091 Optic Nerve Injuries treatment ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:15140649|REF_RGD_ID:8655584 11730749 BDNF brain derived neurotrophic factor gene DOID:9008103 Seasonal Allergic Rhinitis severity ISO RGD:731027 D RGD:9068941 20200609 RGD protein:increased expression:blood, nasal cavity epithelium PMID:18266897|REF_RGD_ID:5144117 11730749 BDNF brain derived neurotrophic factor gene DOID:9008520 Chronic Pain ISO RGD:2202 D RGD:9068941 20200609 RGD mRNA:decreased expression:anterior cingulate cortex PMID:24518228|REF_RGD_ID:10059366 11730749 BDNF brain derived neurotrophic factor gene DOID:9008520 Chronic Pain ISO RGD:2202 D RGD:9068941 20200609 RGD protein:increased expression:frontal cortex, neuron PMID:11360665|REF_RGD_ID:5684922 11730749 BDNF brain derived neurotrophic factor gene DOID:9008680 Respiratory Tract Infections ISO RGD:731027 D RGD:9068941 20200609 RGD protein:decreased expression:platelet, serum PMID:17317133|REF_RGD_ID:4891069 11730749 BDNF brain derived neurotrophic factor gene DOID:9008681 Deafness ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18607918|PMID:19365690 11730749 BDNF brain derived neurotrophic factor gene DOID:9008681 Deafness treatment ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:23150788|REF_RGD_ID:8655576 11730749 BDNF brain derived neurotrophic factor gene DOID:9008681 Deafness treatment ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:21452221|REF_RGD_ID:8639313 11730749 BDNF brain derived neurotrophic factor gene DOID:9008820 Visceral Pain ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:21997550|REF_RGD_ID:8655978 11730749 BDNF brain derived neurotrophic factor gene DOID:9008820 Visceral Pain ISO RGD:10235 D RGD:9068941 20200609 RGD associated with Colitis; protein:increased expression:dorsal root ganglion: PMID:19932037|REF_RGD_ID:8657331 11730749 BDNF brain derived neurotrophic factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:731027 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:17151862|REF_RGD_ID:10059350 11730749 BDNF brain derived neurotrophic factor gene DOID:9427 hypertensive encephalopathy treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:24730417|REF_RGD_ID:10059400 11730749 BDNF brain derived neurotrophic factor gene DOID:9470 bacterial meningitis ISO RGD:10235 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hippocampus PMID:16141791|REF_RGD_ID:5684920 11730749 BDNF brain derived neurotrophic factor gene DOID:9470 bacterial meningitis ISO RGD:2202 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus,cerebral cortex: PMID:22683802|REF_RGD_ID:8655554 11730749 BDNF brain derived neurotrophic factor gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:731027 D RGD:9068941 20200609 RGD protein:decreased expression:photoreceptor outer segment layer: PMID:18405896|REF_RGD_ID:8655629 11730749 BDNF brain derived neurotrophic factor gene DOID:9743 diabetic neuropathy ISO RGD:2202 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:20557422|REF_RGD_ID:4891134 11730749 BDNF brain derived neurotrophic factor gene DOID:9778 irritable bowel syndrome ISO RGD:731027 D RGD:9068941 20200609 RGD protein:increased expression:colonic mucosa,intestinal intestine: PMID:21997550|REF_RGD_ID:8655978 11730749 BDNF brain derived neurotrophic factor gene DOID:987 alopecia ISO RGD:731027 D RGD:9068941 20200609 RGD protein:increased expression:dermal papilla: PMID:21729031|REF_RGD_ID:8657081 11730749 BDNF brain derived neurotrophic factor gene DOID:9970 obesity ISO RGD:731027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Obesity PMID:11840487|PMID:25741868|PMID:28492532 11730749 BDNF brain derived neurotrophic factor gene DOID:9976 heroin dependence ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17715210 11730778 PRRT3 proline rich transmembrane protein 3 gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1605239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 11730778 PRRT3 proline rich transmembrane protein 3 gene DOID:630 genetic disease ISO RGD:1605239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730778 PRRT3 proline rich transmembrane protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11730778 PRRT3 proline rich transmembrane protein 3 gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1605239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 11730778 PRRT3 proline rich transmembrane protein 3 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1605239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:25516202|PMID:28492532 11730799 RPL10L ribosomal protein L10 like gene DOID:0070176 spermatogenic failure 4 ISO RGD:1314230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenesis maturation arrest PMID:32111475 11730799 RPL10L ribosomal protein L10 like gene DOID:0112356 spermatogenic failure 63 ISO RGD:1314230 D RGD:7240710 20220126 OMIM 11730799 RPL10L ribosomal protein L10 like gene DOID:0112356 spermatogenic failure 63 ISO RGD:1314230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 63 PMID:32111475 11730799 RPL10L ribosomal protein L10 like gene DOID:10283 prostate cancer ISO RGD:1314230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11730799 RPL10L ribosomal protein L10 like gene DOID:630 genetic disease ISO RGD:1314230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730799 RPL10L ribosomal protein L10 like gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1314230 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11730799 RPL10L ribosomal protein L10 like gene DOID:9008892 Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis ISO RGD:1314230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis 11730804 ATXN7L3 ataxin 7 like 3 gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1342958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 11730804 ATXN7L3 ataxin 7 like 3 gene DOID:630 genetic disease ISO RGD:1342958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730846 ZNF835 zinc finger protein 835 gene DOID:630 genetic disease ISO RGD:1602312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730860 EXOC1 exocyst complex component 1 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1312667 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 11730860 EXOC1 exocyst complex component 1 gene DOID:630 genetic disease ISO RGD:1312667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730907 DXO decapping exoribonuclease gene DOID:0050553 JMP syndrome ISO RGD:1348619 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11730907 DXO decapping exoribonuclease gene DOID:630 genetic disease ISO RGD:1348619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730918 NUDT14 nudix hydrolase 14 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1321575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11730918 NUDT14 nudix hydrolase 14 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1321575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 11730918 NUDT14 nudix hydrolase 14 gene DOID:630 genetic disease ISO RGD:1321575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730927 ATAD3C ATPase family AAA domain containing 3C gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11730927 ATAD3C ATPase family AAA domain containing 3C gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11730927 ATAD3C ATPase family AAA domain containing 3C gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1604719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11730927 ATAD3C ATPase family AAA domain containing 3C gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1604719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11730927 ATAD3C ATPase family AAA domain containing 3C gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1604719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11730927 ATAD3C ATPase family AAA domain containing 3C gene DOID:0110994 Joubert syndrome 25 ISO RGD:1604719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11730927 ATAD3C ATPase family AAA domain containing 3C gene DOID:0111934 immunodeficiency 38 ISO RGD:1604719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11730927 ATAD3C ATPase family AAA domain containing 3C gene DOID:0111935 immunodeficiency 16 ISO RGD:1604719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11730927 ATAD3C ATPase family AAA domain containing 3C gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11730927 ATAD3C ATPase family AAA domain containing 3C gene DOID:630 genetic disease ISO RGD:1604719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730927 ATAD3C ATPase family AAA domain containing 3C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11730927 ATAD3C ATPase family AAA domain containing 3C gene DOID:9006186 Harel-Yoon Syndrome ISO RGD:1604719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Harel-Yoon syndrome PMID:25741868 11730927 ATAD3C ATPase family AAA domain containing 3C gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1604719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11730927 ATAD3C ATPase family AAA domain containing 3C gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1604719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11730943 LMNTD2 lamin tail domain containing 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11730943 LMNTD2 lamin tail domain containing 2 gene DOID:0050729 neutral lipid storage disease ISO RGD:1603159 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 11730943 LMNTD2 lamin tail domain containing 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1603159 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11730943 LMNTD2 lamin tail domain containing 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:1603159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11730943 LMNTD2 lamin tail domain containing 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11730943 LMNTD2 lamin tail domain containing 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11730943 LMNTD2 lamin tail domain containing 2 gene DOID:630 genetic disease ISO RGD:1603159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11730982 ZFR zinc finger RNA binding protein gene DOID:1059 intellectual disability ISO RGD:1323583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11730982 ZFR zinc finger RNA binding protein gene DOID:2476 hereditary spastic paraplegia ISO RGD:1323583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11730982 ZFR zinc finger RNA binding protein gene DOID:630 genetic disease ISO RGD:1323583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11730982 ZFR zinc finger RNA binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11730982 ZFR zinc finger RNA binding protein gene DOID:9004547 Thyroid Neoplasms ISO RGD:1323583 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34323000 11730982 ZFR zinc finger RNA binding protein gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1323583 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34323000 11731004 CD70 CD70 molecule gene DOID:0080490 mucolipidosis type IV ISO RGD:1351721 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11731004 CD70 CD70 molecule gene DOID:12930 dilated cardiomyopathy ISO RGD:1351721 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 11731004 CD70 CD70 molecule gene DOID:630 genetic disease ISO RGD:1351721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731004 CD70 CD70 molecule gene DOID:820 myocarditis ISO RGD:1351721 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 11731004 CD70 CD70 molecule gene DOID:9009027 Lymphoproliferative Syndrome 3 ISO RGD:1351721 D RGD:7240710 20190315 OMIM 11731004 CD70 CD70 molecule gene DOID:9009027 Lymphoproliferative Syndrome 3 ISO RGD:1351721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: LYMPHOPROLIFERATIVE SYNDROME 3 PMID:28011863|PMID:28011864 11731004 CD70 CD70 molecule gene DOID:934 viral infectious disease ISO RGD:1351721 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 11731011 MICAL2 microtubule associated monooxygenase, calponin and LIM domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1602728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11731011 MICAL2 microtubule associated monooxygenase, calponin and LIM domain containing 2 gene DOID:3007 breast ductal carcinoma ISO RGD:1602728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 11731011 MICAL2 microtubule associated monooxygenase, calponin and LIM domain containing 2 gene DOID:5082 liver cirrhosis ISO RGD:1602728 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32659284 11731011 MICAL2 microtubule associated monooxygenase, calponin and LIM domain containing 2 gene DOID:630 genetic disease ISO RGD:1602728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731075 BOLA2B bolA family member 2B gene DOID:0060019 coronin-1A deficiency ISO RGD:1605447 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION PMID:28492532 11731075 BOLA2B bolA family member 2B gene DOID:0060041 autism spectrum disorder ISO RGD:1605447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 11731075 BOLA2B bolA family member 2B gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1605447 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 11731075 BOLA2B bolA family member 2B gene DOID:12849 autistic disorder ISO RGD:1605447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11731075 BOLA2B bolA family member 2B gene DOID:5419 schizophrenia ISO RGD:1605447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11731075 BOLA2B bolA family member 2B gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1605447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 11731082 NUMA1 nuclear mitotic apparatus protein 1 gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1318746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 11731082 NUMA1 nuclear mitotic apparatus protein 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1318746 D RGD:7240710 20180130 OMIM 11731082 NUMA1 nuclear mitotic apparatus protein 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1318746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acute promyelocytic leukemia PMID:25741868|PMID:28492532 11731082 NUMA1 nuclear mitotic apparatus protein 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1318746 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11731082 NUMA1 nuclear mitotic apparatus protein 1 gene DOID:0110515 autosomal recessive nonsyndromic deafness 63 ISO RGD:1318746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 63 11731082 NUMA1 nuclear mitotic apparatus protein 1 gene DOID:1059 intellectual disability ISO RGD:1318746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11731082 NUMA1 nuclear mitotic apparatus protein 1 gene DOID:2661 myoepithelioma ISO RGD:1318746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11731082 NUMA1 nuclear mitotic apparatus protein 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1318746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 11731082 NUMA1 nuclear mitotic apparatus protein 1 gene DOID:630 genetic disease ISO RGD:1318746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731138 B3GALNT1 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) gene DOID:630 genetic disease ISO RGD:1312449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731138 B3GALNT1 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) gene DOID:9005170 polyagglutination ISO RGD:1312449 D RGD:7240710 20230505 OMIM 11731197 EMC6 ER membrane protein complex subunit 6 gene DOID:3613 Canavan disease ISO RGD:1606492 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:28492532|PMID:7668285 11731197 EMC6 ER membrane protein complex subunit 6 gene DOID:630 genetic disease ISO RGD:1606492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731207 B4GAT1 beta-1,4-glucuronyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1319932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11731207 B4GAT1 beta-1,4-glucuronyltransferase 1 gene DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ISO RGD:1615764 D RGD:9068941 20220825 MouseDO OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 11731207 B4GAT1 beta-1,4-glucuronyltransferase 1 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1319932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 11731207 B4GAT1 beta-1,4-glucuronyltransferase 1 gene DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ISO RGD:1319932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:23877401|PMID:25558065 11731207 B4GAT1 beta-1,4-glucuronyltransferase 1 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:1319932 D RGD:7240710 20190315 OMIM 11731207 B4GAT1 beta-1,4-glucuronyltransferase 1 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:1319932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:17576681|PMID:22219654|PMID:23877401|PMID:25558065|PMID:25741868|PMID:28492532|PMID:9536098 11731207 B4GAT1 beta-1,4-glucuronyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:1319932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11731207 B4GAT1 beta-1,4-glucuronyltransferase 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1319932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11731207 B4GAT1 beta-1,4-glucuronyltransferase 1 gene DOID:2746 glycogen storage disease V ISO RGD:1319932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11731207 B4GAT1 beta-1,4-glucuronyltransferase 1 gene DOID:630 genetic disease ISO RGD:1319932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11731207 B4GAT1 beta-1,4-glucuronyltransferase 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1319932 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11731207 B4GAT1 beta-1,4-glucuronyltransferase 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1319932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11731207 B4GAT1 beta-1,4-glucuronyltransferase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1319932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 11731213 SGK2 serum/glucocorticoid regulated kinase 2 gene DOID:2234 focal epilepsy ISO RGD:1347154 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11731213 SGK2 serum/glucocorticoid regulated kinase 2 gene DOID:630 genetic disease ISO RGD:1347154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731213 SGK2 serum/glucocorticoid regulated kinase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11731213 SGK2 serum/glucocorticoid regulated kinase 2 gene DOID:9256 colorectal cancer ISO RGD:1347154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 11731244 MAPRE1 microtubule associated protein RP/EB family member 1 gene DOID:630 genetic disease ISO RGD:1353139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731244 MAPRE1 microtubule associated protein RP/EB family member 1 gene DOID:9004657 Weight Gain ISO RGD:1353139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11731244 MAPRE1 microtubule associated protein RP/EB family member 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1353139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11731255 VGLL3 vestigial like family member 3 gene DOID:630 genetic disease ISO RGD:1602804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731279 TMEM176A transmembrane protein 176A gene DOID:2843 long QT syndrome ISO RGD:1602320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 11731279 TMEM176A transmembrane protein 176A gene DOID:630 genetic disease ISO RGD:1602320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731296 XCR1 X-C motif chemokine receptor 1 gene DOID:630 genetic disease ISO RGD:1322962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731296 XCR1 X-C motif chemokine receptor 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1322962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11731309 LOC100974240 olfactory receptor 51T1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1352520 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11731309 LOC100974240 olfactory receptor 51T1 gene DOID:630 genetic disease ISO RGD:1352520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731312 NUBP1 NUBP iron-sulfur cluster assembly factor 1, cytosolic gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1321458 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 11731312 NUBP1 NUBP iron-sulfur cluster assembly factor 1, cytosolic gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1321458 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 11731312 NUBP1 NUBP iron-sulfur cluster assembly factor 1, cytosolic gene DOID:5812 MHC class II deficiency ISO RGD:1321458 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:26271388|PMID:28492532|PMID:8402893|PMID:9099848 11731312 NUBP1 NUBP iron-sulfur cluster assembly factor 1, cytosolic gene DOID:630 genetic disease ISO RGD:1321458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731328 RXFP2 relaxin family peptide receptor 2 gene DOID:11383 cryptorchidism ISO RGD:1319797 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bilateral cryptorchidism | ClinVar Annotator: match by term: Cryptorchidism PMID:12217959|PMID:12970298|PMID:20636340|PMID:25741868 11731328 RXFP2 relaxin family peptide receptor 2 gene DOID:1923 disorder of sexual development ISO RGD:1319797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 11731328 RXFP2 relaxin family peptide receptor 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1319797 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 11731328 RXFP2 relaxin family peptide receptor 2 gene DOID:630 genetic disease ISO RGD:1319797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731351 SAR1A secretion associated Ras related GTPase 1A gene DOID:630 genetic disease ISO RGD:1350460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731377 EIF2B1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:0050777 Joubert syndrome ISO RGD:733321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11731377 EIF2B1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:733321 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:11835386|PMID:15776425|PMID:16199547|PMID:16807905|PMID:17576681|PMID:18263758|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26285592|PMID:28492532|PMID:31882561|PMID:32865661|PMID:33334879|PMID:34663487|PMID:9536098 11731377 EIF2B1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:10907 microcephaly ISO RGD:733321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11731377 EIF2B1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:11832 visual epilepsy ISO RGD:733321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal seizures 11731377 EIF2B1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:1826 epilepsy ISO RGD:733321 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11731377 EIF2B1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:3910 lung adenocarcinoma ISO RGD:733321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11731377 EIF2B1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:630 genetic disease ISO RGD:733321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11731377 EIF2B1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:9002704 Leukoencephalopathies ISO RGD:733321 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CACH/VWM syndrome PMID:11835386|PMID:15776425|PMID:16199547|PMID:16807905|PMID:17576681|PMID:18263758|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26285592|PMID:28492532|PMID:31882561|PMID:32865661|PMID:33334879|PMID:34663487|PMID:9536098 11731377 EIF2B1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:9005348 Leukoencephalopathy with Vanishing White Matter 1 ISO RGD:733321 D RGD:7240710 20230505 OMIM 11731377 EIF2B1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:9005348 Leukoencephalopathy with Vanishing White Matter 1 ISO RGD:733321 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1 PMID:11835386|PMID:15776425|PMID:16199547|PMID:16807905|PMID:17576681|PMID:18263758|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26285592|PMID:28492532|PMID:31882561|PMID:32865661|PMID:33334879|PMID:34663487|PMID:9536098 11731377 EIF2B1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:9006205 Animal Disease Models ISO RGD:733321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:0050083 Keshan disease ISO RGD:730870 D RGD:9068941 20210326 RGD mRNA,protein:increased expression:blood cells, serum: PMID:26893848|REF_RGD_ID:124713562 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:22660220|REF_RGD_ID:14700952 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:730870 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:0060180 colitis ISO RGD:10436 D RGD:9068941 20200609 RGD mRNA:increased expression:large intestine epithelium PMID:21374063|REF_RGD_ID:5147670 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:0080855 Parkinsonism ISO RGD:10436 D RGD:9068941 20200609 RGD mRNA:decreased expression:striatum PMID:18374908|REF_RGD_ID:5147675 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:10283 prostate cancer ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:12949934|REF_RGD_ID:14700953 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:10534 stomach cancer ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:16270381|REF_RGD_ID:14700945 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:10763 hypertension ISO RGD:10436 D RGD:9068941 20200609 RGD PMID:20634294|REF_RGD_ID:7257731 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:10763 hypertension ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20634294|PMID:22995157 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:10892 hypospadias ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:15579657|REF_RGD_ID:11576312 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:10892 hypospadias no_association ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:21300689|REF_RGD_ID:11576313 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:10952 nephritis ISO RGD:10436 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:21907489|REF_RGD_ID:7175305 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:11054 urinary bladder cancer ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:21990318|REF_RGD_ID:7257730 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:11054 urinary bladder cancer ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism: :2455A>G (human) PMID:18979064|REF_RGD_ID:7257733 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:11054 urinary bladder cancer no_association ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphisms: :3801T>C (human) PMID:18200441|REF_RGD_ID:7257736 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:114 heart disease ISO RGD:2458 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart PMID:23391631|REF_RGD_ID:7296941 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:18339256|REF_RGD_ID:11576309 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:11836 clubfoot ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:rs1048943 (1384A>G) (p.I462V) (human) PMID:21254355|REF_RGD_ID:11576307 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:11934 head and neck cancer ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:16721740|REF_RGD_ID:14700978 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:11934 head and neck cancer ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:20846153|REF_RGD_ID:14700957 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:1205 allergic disease ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19022366 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:12336 male infertility ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19303595 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:12361 Graves' disease ISO RGD:730870 D RGD:9068941 20200609 RGD associated with Herpesviridae Infections PMID:19903800|REF_RGD_ID:5147671 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:12894 Sjogren's syndrome ISO RGD:730870 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid;DNA:polymorphism: :4889A>G (human) PMID:12590982|REF_RGD_ID:5147747 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:730870 D RGD:9068941 20210326 RGD mRNA,protein:increased expression:blood cells, serum: PMID:26893848|REF_RGD_ID:124713562 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:1324 lung cancer ISO RGD:730870 D RGD:9068941 20200609 RGD associated with Pulmonary Emphysema;DNA:polymorphism: :p.I462V (human) PMID:16696009|REF_RGD_ID:4892075 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:13241 Behcet's disease ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:SNPs: :4889A>G, 4887C>A (human) PMID:15088300|REF_RGD_ID:8552789 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:1380 endometrial cancer ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:SNP:CDS:rs4646903 T/T genotype, rs4646903-rs1048943 T-A haplotype, rs4646903 (TT) combined with SULT1A1 SNP rs9282861 (GA + AA) or rs4646903 (TT) combined with SULT1E1 SNP rs3736599 (GA+AA) PMID:18318428|REF_RGD_ID:2301040 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:14330 Parkinson's disease no_association ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.I462V (human) PMID:11793160|REF_RGD_ID:5147678 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:14330 Parkinson's disease no_association ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:11484167|REF_RGD_ID:5147679 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.I462V (human) PMID:8872868|REF_RGD_ID:5147681 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:1485 cystic fibrosis severity ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:14593914|REF_RGD_ID:4889126 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:1612 breast cancer ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:6235T>C (human) PMID:21418988|REF_RGD_ID:8552792 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:1612 breast cancer ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:SNP::rs4646903 (human) PMID:18497059|REF_RGD_ID:2301045 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:1612 breast cancer no_association ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:SNP: :p.I462V (rs1048943) (human) PMID:17603290|REF_RGD_ID:8552794 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:1612 breast cancer no_association ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple PMID:9426059|REF_RGD_ID:8552810 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:1612 breast cancer no_association ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:transitions:exon, 3' utr:4889A>G, 6235T>C (human) PMID:12496044|REF_RGD_ID:8552799 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:730870 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:2717 Bloom syndrome ISO RGD:730870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:2773 contact dermatitis ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:2841 asthma ISO RGD:10436 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, decreased activity:lung PMID:12415424|REF_RGD_ID:4892074 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:2843 long QT syndrome ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26988683 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:289 endometriosis ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:18849443|REF_RGD_ID:5147674 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:3021 acute kidney failure treatment ISO RGD:10436 D RGD:9068941 20200609 RGD PMID:18495746|PMID:19890363|REF_RGD_ID:7257732|REF_RGD_ID:7257735 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:3042 allergic contact dermatitis ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11312644|PMID:19022366 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19022366 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphisms: :2455A>G, 3801T>C (human) PMID:18389617|REF_RGD_ID:4892071 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:19507017|REF_RGD_ID:4892045 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.I462V, 3801T>C (human) PMID:20080081|REF_RGD_ID:4293707 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:3121 gallbladder cancer ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.I462V (human) PMID:18990008|REF_RGD_ID:2317211 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:3121 gallbladder cancer ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:transition: :6235T>C (human) PMID:18287863|REF_RGD_ID:2317212 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:3132 porphyria cutanea tarda ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:14714565|REF_RGD_ID:11576310 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:3310 atopic dermatitis ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:341 peripheral vascular disease ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19022366 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:11860825|REF_RGD_ID:14700943 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:4450 renal cell carcinoma ISO RGD:2458 D RGD:9068941 20200609 RGD PMID:11115552|REF_RGD_ID:7296938 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:4450 renal cell carcinoma ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:9631944|REF_RGD_ID:7296939 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:4450 renal cell carcinoma ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.I462V (human) PMID:22296350|REF_RGD_ID:7257729 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:4450 renal cell carcinoma no_association ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:SNPs: :6235T>C, 4889A>G, 4887C>A (human) PMID:22000673|REF_RGD_ID:7296937 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:4607 biliary tract cancer ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:rs2606345 (human) PMID:19168589|REF_RGD_ID:2317210 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:5041 esophageal cancer ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:11833070|PMID:26782562|REF_RGD_ID:11554919|REF_RGD_ID:14700950 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:5419 schizophrenia ISO RGD:730870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:552 pneumonia susceptibility ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:15928955|REF_RGD_ID:4142512 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:6132 bronchitis ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:14593914|REF_RGD_ID:4889126 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:6196 reactive arthritis ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism: :4887C>A (human) PMID:14687717|REF_RGD_ID:1581251 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:730870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:6432 pulmonary hypertension ISO RGD:2458 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung PMID:28956952|REF_RGD_ID:13702097 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341023 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:7147 ankylosing spondylitis ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism: :4887C>A (human) PMID:12880680|REF_RGD_ID:1581252 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:783 end stage renal disease ISO RGD:2458 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:intestine PMID:12039987|REF_RGD_ID:7296923 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:783 end stage renal disease ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphisms:exon, 3' utr:3801T>C (rs4646903), p.I462V (rs1048943) (human) PMID:23619522|REF_RGD_ID:7257728 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:824 periodontitis ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:15491310|REF_RGD_ID:14700983 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:4889A>G(p.I462V)(human) PMID:26464823|REF_RGD_ID:11352729 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:8618 oral cavity cancer ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:17461521|REF_RGD_ID:14700965 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:8893 psoriasis susceptibility ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:missense mutation, SNP:exon, 3' utr:2455A>G, 3801T>C (human) PMID:12713578|REF_RGD_ID:5147677 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9000310 Lung Injury ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24893714|PMID:25703676 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9000363 Hematuria ISO RGD:730870 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:29027484 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2458 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:22687991|REF_RGD_ID:7296954 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2458 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:19595018|REF_RGD_ID:2314952 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2458 D RGD:9068941 20200609 RGD PMID:18442069|REF_RGD_ID:11576311 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2458 D RGD:9068941 20200609 RGD mRNA:increased expression:placenta PMID:16225763|REF_RGD_ID:2306659 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:17706398|REF_RGD_ID:11576317 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15003126 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11275366|PMID:17919073 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9002564 Arteritis ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19022366 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9002992 Nematode Infections ISO RGD:2458 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:12621079|REF_RGD_ID:2306675 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19022366|PMID:26593447 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9003936 Cardiomegaly ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18725507 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9003996 Birth Weight ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27592400 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9004237 Hyperoxic Lung Injury ISO RGD:10436 D RGD:9068941 20200609 RGD PMID:24893714|REF_RGD_ID:11576306 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9004237 Hyperoxic Lung Injury treatment ISO RGD:10436 D RGD:9068941 20200609 RGD PMID:21745492|REF_RGD_ID:11576318 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9004237 Hyperoxic Lung Injury treatment ISO RGD:2458 D RGD:9068941 20200609 RGD PMID:15958656|REF_RGD_ID:4892072 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9004351 Digestive System Neoplasms ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:rs1048943 (human) PMID:19168589|REF_RGD_ID:2317210 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9004484 Sepsis ISO RGD:2458 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:15665729|REF_RGD_ID:5147745 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9004610 Acute Lung Injury ISO RGD:10436 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:18367723|REF_RGD_ID:5135235 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9004610 Acute Lung Injury ISO RGD:2458 D RGD:9068941 20200609 RGD PMID:16882535|REF_RGD_ID:5147744 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9004898 Jaundice ISO RGD:2458 D RGD:9068941 20200609 RGD PMID:8502229|REF_RGD_ID:11576308 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9005236 Drug Eruptions ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19351467 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9005369 Hepatomegaly ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9005372 Inflammation ISO RGD:2458 D RGD:9068941 20200609 RGD PMID:16006567|REF_RGD_ID:5147676 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9005463 Occupational Diseases ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16737584 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2458 D RGD:9068941 20200609 RGD protein:increased expression:liver, microsome (rat) PMID:10711628|REF_RGD_ID:2307074 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22342832 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9006638 Sinus Tachycardia ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26988683 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23138419 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9007001 Bradycardia ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26988683 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9007253 Hamartoma ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21998131 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730870 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:33814510 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9007480 Hyperoxia ISO RGD:10436 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, lung PMID:15123765|REF_RGD_ID:4892073 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9007480 Hyperoxia ISO RGD:2458 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, lung (rat) PMID:8267628|REF_RGD_ID:2307076 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9007480 Hyperoxia ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24893714 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9007651 Chronic Bronchitis susceptibility ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:15928955|REF_RGD_ID:4142512 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9008 psoriatic arthritis susceptibility ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphisms: :4887C>A, 4889A>G (human) PMID:15124938|REF_RGD_ID:5147746 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16792888 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:SNP: :4887C>A (human) PMID:14611903|REF_RGD_ID:1581249 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:SNP: :p.I462V (human) PMID:10599336|REF_RGD_ID:5147680 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:3801T>C (rs4646903) PMID:19561157|REF_RGD_ID:5147672 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9119 acute myeloid leukemia ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:SNP: :6235T>C (human) PMID:19456854|REF_RGD_ID:10769358 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism: :6235T>C (human) PMID:15996939|REF_RGD_ID:11352736 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9119 acute myeloid leukemia no_association ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:SNP: :4889A>G (human) PMID:19456854|REF_RGD_ID:10769358 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9256 colorectal cancer ISO RGD:730870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9351 diabetes mellitus ISO RGD:730870 D RGD:9068941 20200609 RGD associated with Smoking Inhalation Injury; DNA:polymorphism:3' UTR:5639T>C (human) PMID:11996959|REF_RGD_ID:2307073 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism:3' UTR:5639T>C (human) PMID:11996959|REF_RGD_ID:2307073 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9538 multiple myeloma susceptibility ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphisms:3'UTR,cds:3801T>C,12455A>G(human) PMID:18285692|REF_RGD_ID:11352726 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism:3'UTR:3801T>C(human) PMID:16676594|REF_RGD_ID:11352728 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism:3"UTR:rs4646903(human) PMID:22964275|REF_RGD_ID:11352714 11731397 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:2452C>A(p.T461N)(human) PMID:23725389|REF_RGD_ID:11352725 11731410 SRPRA SRP receptor subunit alpha gene DOID:0060479 Shwachman-Diamond syndrome ISO RGD:1322997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 11731410 SRPRA SRP receptor subunit alpha gene DOID:0110877 holoprosencephaly 11 ISO RGD:1322997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11731410 SRPRA SRP receptor subunit alpha gene DOID:0111723 Jacobsen Syndrome ISO RGD:1322997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11731410 SRPRA SRP receptor subunit alpha gene DOID:5419 schizophrenia ISO RGD:1322997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11731410 SRPRA SRP receptor subunit alpha gene DOID:630 genetic disease ISO RGD:1322997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731410 SRPRA SRP receptor subunit alpha gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11731410 SRPRA SRP receptor subunit alpha gene DOID:9007661 Dwarfism ISO RGD:1322997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11731428 LOC100976999 olfactory receptor 2L2 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1347355 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11731428 LOC100976999 olfactory receptor 2L2 gene DOID:1540 parathyroid carcinoma ISO RGD:1347355 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11731428 LOC100976999 olfactory receptor 2L2 gene DOID:630 genetic disease ISO RGD:1347355 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731428 LOC100976999 olfactory receptor 2L2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347355 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11731428 LOC100976999 olfactory receptor 2L2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347355 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11731431 MID1IP1 MID1 interacting protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11731431 MID1IP1 MID1 interacting protein 1 gene DOID:12849 autistic disorder ISO RGD:1344749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11731431 MID1IP1 MID1 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1344749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731431 MID1IP1 MID1 interacting protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344749 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11731431 MID1IP1 MID1 interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11731431 MID1IP1 MID1 interacting protein 1 gene DOID:9006836 Contracture ISO RGD:1344749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 11731431 MID1IP1 MID1 interacting protein 1 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1344749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 11731438 UBE2Z ubiquitin conjugating enzyme E2 Z gene DOID:630 genetic disease ISO RGD:1606510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731449 BEND7 BEN domain containing 7 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1314203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11731449 BEND7 BEN domain containing 7 gene DOID:630 genetic disease ISO RGD:1314203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731504 SNF8 SNF8 subunit of ESCRT-II gene DOID:10487 Hirschsprung's disease ISO RGD:1604833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 11731504 SNF8 SNF8 subunit of ESCRT-II gene DOID:630 genetic disease ISO RGD:1604833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731513 CDC25B cell division cycle 25B gene DOID:0080365 endometrial hyperplasia ISO RGD:1604653 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:14559803|REF_RGD_ID:4105451 11731513 CDC25B cell division cycle 25B gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1604653 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11731513 CDC25B cell division cycle 25B gene DOID:10283 prostate cancer ISO RGD:1604653 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:12569365|REF_RGD_ID:4105454 11731513 CDC25B cell division cycle 25B gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1604653 D RGD:9068941 20200609 RGD PMID:19383904|REF_RGD_ID:2739695 11731513 CDC25B cell division cycle 25B gene DOID:1380 endometrial cancer ISO RGD:1604653 D RGD:9068941 20200609 RGD PMID:14559803|REF_RGD_ID:4105451 11731513 CDC25B cell division cycle 25B gene DOID:2101 vulva squamous cell carcinoma disease_progression ISO RGD:1604653 D RGD:9068941 20200609 RGD protein:increased expression:vulva PMID:20500813|REF_RGD_ID:2729590 11731513 CDC25B cell division cycle 25B gene DOID:3459 breast carcinoma disease_progression ISO RGD:1604653 D RGD:9068941 20200609 RGD PMID:15550849|REF_RGD_ID:4105449 11731513 CDC25B cell division cycle 25B gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1604653 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11731513 CDC25B cell division cycle 25B gene DOID:630 genetic disease ISO RGD:1604653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731513 CDC25B cell division cycle 25B gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1604653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 11731513 CDC25B cell division cycle 25B gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1604653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11731513 CDC25B cell division cycle 25B gene DOID:9775 diastolic heart failure ISO RGD:1604653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 11731553 NUTF2 nuclear transport factor 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1345837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11731553 NUTF2 nuclear transport factor 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1345837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11731553 NUTF2 nuclear transport factor 2 gene DOID:8947 diabetic retinopathy ISO RGD:1345837 D RGD:9068941 20200609 RGD mRNA:decreased expression:peripheral blood: PMID:19404486|REF_RGD_ID:9831377 11731553 NUTF2 nuclear transport factor 2 gene DOID:8947 diabetic retinopathy treatment ISO RGD:1359213 D RGD:9068941 20200609 RGD PMID:19404486|REF_RGD_ID:9831377 11731565 ANKRD33 ankyrin repeat domain 33 gene DOID:630 genetic disease ISO RGD:1344617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731590 KIZ kizuna centrosomal protein gene DOID:0110410 retinitis pigmentosa 69 ISO RGD:1316045 D RGD:7240710 20180130 OMIM 11731590 KIZ kizuna centrosomal protein gene DOID:0110410 retinitis pigmentosa 69 ISO RGD:1316045 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 69 PMID:24680887|PMID:25741868|PMID:28492532|PMID:28837078|PMID:29057815|PMID:31556760|PMID:32052671 11731590 KIZ kizuna centrosomal protein gene DOID:10584 retinitis pigmentosa ISO RGD:1316045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:24680887|PMID:25741868|PMID:28166811|PMID:28492532|PMID:28837078|PMID:29057815|PMID:31556760|PMID:32052671 11731590 KIZ kizuna centrosomal protein gene DOID:10584 retinitis pigmentosa ISO RGD:1316045 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:24680887|PMID:25741868|PMID:28492532|PMID:28837078|PMID:29057815|PMID:31556760|PMID:32052671 11731590 KIZ kizuna centrosomal protein gene DOID:630 genetic disease ISO RGD:1316045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11731590 KIZ kizuna centrosomal protein gene DOID:8501 fundus dystrophy ISO RGD:1316045 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24680887|PMID:25741868|PMID:28492532|PMID:28837078|PMID:29057815|PMID:31556760|PMID:32052671 11731614 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:0060337 CEDNIK syndrome ISO RGD:736810 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: CEDNIK syndrome PMID:25741868|PMID:26467025|PMID:28492532 11731614 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:736810 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 11731614 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:736810 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 11731614 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:0111901 heparin cofactor II deficiency ISO RGD:736810 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Heparin cofactor II deficiency | ClinVar Annotator: match by term: Thrombotic stroke PMID:11204559|PMID:25741868|PMID:2647747|PMID:28492532|PMID:31064749|PMID:34355501|PMID:8562924|PMID:8902986 11731614 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:0112347 hereditary spastic paraplegia 84 ISO RGD:736810 D RGD:7240710 20211201 OMIM 11731614 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:0112347 hereditary spastic paraplegia 84 ISO RGD:736810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 84, autosomal recessive PMID:25741868|PMID:28492532|PMID:34415322 11731614 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:1059 intellectual disability ISO RGD:736810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11731614 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:11198 DiGeorge syndrome ISO RGD:736810 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 11731614 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:11372 megacolon ISO RGD:736810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11731614 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:12583 velocardiofacial syndrome ISO RGD:736810 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 11731614 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:12849 autistic disorder ISO RGD:736810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11731614 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:1826 epilepsy ISO RGD:736810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11731614 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:2213 hemorrhagic disease ISO RGD:736810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 11731614 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:2843 long QT syndrome ISO RGD:736810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11731614 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:5419 schizophrenia ISO RGD:736810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11731614 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:612 primary immunodeficiency disease ISO RGD:736810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11731614 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:630 genetic disease ISO RGD:736810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731614 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:9002810 Gastrointestinal Defects and Immunodeficiency Syndrome 2 ISO RGD:736810 D RGD:7240710 20220202 OMIM 11731614 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:9002810 Gastrointestinal Defects and Immunodeficiency Syndrome 2 ISO RGD:736810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome 2 PMID:34415310 11731614 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:9003871 Venous Thrombosis ISO RGD:736810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 11731614 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11731614 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:9007661 Dwarfism ISO RGD:736810 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11731614 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:9008864 POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS ISO RGD:736810 D RGD:7240710 20200610 OMIM 11731614 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:9008864 POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS ISO RGD:736810 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis PMID:25741868|PMID:25855803|PMID:26752647|PMID:28492532|PMID:34415310|PMID:34415322 11731614 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:9281 phenylketonuria ISO RGD:736810 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Phenylketonuria PMID:25741868 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1345007 D RGD:9068941 20200609 RGD PMID:22954124|REF_RGD_ID:14700880 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:0050868 hepatocellular adenoma treatment ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:23543859|REF_RGD_ID:14700918 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11406608 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1345007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:10451 D RGD:9068941 20200609 RGD PMID:26703967|REF_RGD_ID:11573192 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26428356 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:10451 D RGD:9068941 20200609 RGD PMID:28458161|REF_RGD_ID:14700881 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:25317811|REF_RGD_ID:14700871 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:10320 asbestosis ISO RGD:1345007 D RGD:9068941 20200609 RGD mRNA:decreased expression:leukocyte PMID:20514434|REF_RGD_ID:4892076 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1345007 D RGD:9068941 20200609 RGD PMID:22957075|REF_RGD_ID:14700909 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:1168 familial hyperlipidemia ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:23002367|REF_RGD_ID:14700877 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:11981 morbid obesity ISO RGD:1345007 D RGD:9068941 20200609 RGD protein:increased activity::3x higher activity in morbidly obese subjects compared to non-obese, activity decreased proportionally with weight loss, activity measured as total oral chlorzoxazone clearance PMID:12883487|REF_RGD_ID:1626305 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:12689 acoustic neuroma ISO RGD:1345007 D RGD:9068941 20200609 RGD DNA:snp:promoter:c.-1053C>T (human) PMID:12540498|REF_RGD_ID:1358568 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:13938 amenorrhea ISO RGD:1345007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20843640 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1345007 D RGD:9068941 20200609 RGD PMID:29404441|REF_RGD_ID:14700873 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:14330 Parkinson's disease ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16510128 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:1574 alcohol use disorder ISO RGD:10451 D RGD:9068941 20200609 RGD PMID:29404485|REF_RGD_ID:14700911 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:1574 alcohol use disorder ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20843640 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:1574 alcohol use disorder ISO RGD:1345007 D RGD:9068941 20200609 RGD protein:increased expression:plasma, extracellular exosome PMID:29404485|REF_RGD_ID:14700911 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:1574 alcohol use disorder ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:23819932|REF_RGD_ID:14700915 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:1596 depressive disorder ISO RGD:2475 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:20595028|REF_RGD_ID:4892242 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:1852 intrahepatic cholestasis ISO RGD:10451 D RGD:9068941 20200609 RGD PMID:29404441|REF_RGD_ID:14700873 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:2044 drug-induced hepatitis ISO RGD:2475 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:23619520|REF_RGD_ID:14700910 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:219 colon cancer treatment ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:30720227|REF_RGD_ID:14700924 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:2841 asthma ISO RGD:10451 D RGD:9068941 20200609 RGD PMID:17081494|REF_RGD_ID:4892220 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:2841 asthma ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28807506 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:2841 asthma ISO RGD:1345007 D RGD:9068941 20200609 RGD mRNA:decreased expression:leukocyte PMID:20514434|REF_RGD_ID:4892076 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:299 adenocarcinoma ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16142352 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:3021 acute kidney failure treatment ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:24412858|PMID:24717297|REF_RGD_ID:14700914|REF_RGD_ID:14700920 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:3070 high grade glioma ISO RGD:1345007 D RGD:9068941 20200609 RGD DNA:snp:promoter:c.-1053C>T (human) PMID:12540498|REF_RGD_ID:1358568 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1345007 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-1293G>C, 7632T>A, 9893C>G (human) PMID:17442289|REF_RGD_ID:4892219 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:23002367|REF_RGD_ID:14700877 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16142352 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:409 liver disease ISO RGD:1345007 D RGD:9068941 20200609 RGD PMID:20392357|REF_RGD_ID:4892216 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:409 liver disease ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:19352025|REF_RGD_ID:4892217 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:409 liver disease ISO RGD:2475 D RGD:9068941 20200609 RGD associated with familial hyperlipidemia and middle cerebral artery infarction PMID:23002367|REF_RGD_ID:14700877 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:409 liver disease no_association ISO RGD:1345007 D RGD:9068941 20200609 RGD DNA:polymorphism, repeat:5' utr (human) PMID:17950035|REF_RGD_ID:4892218 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:409 liver disease treatment ISO RGD:2475 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21425780|REF_RGD_ID:14700913 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:552 pneumonia ISO RGD:10451 D RGD:9068941 20200609 RGD protein:increased expression:alveolus, epithelial cell PMID:14698565|REF_RGD_ID:4892223 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:552 pneumonia ISO RGD:1345007 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:15928955|REF_RGD_ID:4142512 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:630 genetic disease ISO RGD:1345007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15162526 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1345007 D RGD:9068941 20200609 RGD DNA, mRNA:SNP, Decreased expression:liver: rs2031920 (human) PMID:29765251|REF_RGD_ID:14700899 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1345007 D RGD:9068941 20200609 RGD associated with alcohol dependence PMID:20364586|REF_RGD_ID:14700882 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1345007 D RGD:9068941 20200609 RGD mRNA:decreased expression:leukocyte PMID:20514434|REF_RGD_ID:4892076 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:850 lung disease ISO RGD:10451 D RGD:9068941 20200609 RGD Lung Injury PMID:8667236|REF_RGD_ID:4892222 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:8618 oral cavity cancer ISO RGD:1345007 D RGD:9068941 20200609 RGD PMID:16721740|REF_RGD_ID:14700978 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:10451 D RGD:9068941 20200609 RGD PMID:29401608|REF_RGD_ID:14700887 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:1345007 D RGD:9068941 20200609 RGD PMID:29401608|REF_RGD_ID:14700887 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:10451 D RGD:9068941 20200609 RGD PMID:25592162|PMID:29902864|REF_RGD_ID:14700893|REF_RGD_ID:14700894 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:30192013|REF_RGD_ID:14700906 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18056438 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12771559 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9003936 Cardiomegaly ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18725507 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2475 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:21094789|REF_RGD_ID:4892235 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9004484 Sepsis ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:15665729|REF_RGD_ID:5147745 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1673675|PMID:17093202 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9005236 Drug Eruptions ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19351467 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10451 D RGD:9068941 20200609 RGD PMID:12700423|REF_RGD_ID:2313685 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2475 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney, liver PMID:19406192|REF_RGD_ID:2313683 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9005749 Necrosis ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12086689|PMID:12566070 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9006302 Binge Drinking ISO RGD:10451 D RGD:9068941 20200609 RGD PMID:25236742|REF_RGD_ID:14700891 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9006302 Binge Drinking ISO RGD:1345007 D RGD:9068941 20200609 RGD protein:increased expression, increased nitration PMID:25236742|REF_RGD_ID:14700891 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9006302 Binge Drinking ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:29404485|REF_RGD_ID:14700911 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9006411 Testicular Injury treatment ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:27130490|REF_RGD_ID:14700916 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22156006 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18990727 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:10451 D RGD:9068941 20200609 RGD PMID:24064383|PMID:25583360|REF_RGD_ID:14700870|REF_RGD_ID:14700884 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26428356 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17093202 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9007329 Human Viral Hepatitis ISO RGD:1345007 D RGD:9068941 20200609 RGD PMID:20939108|REF_RGD_ID:14700885 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:10451 D RGD:9068941 20200609 RGD PMID:25681370|REF_RGD_ID:14700872 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12668988|PMID:16770646|PMID:21741958|PMID:28762043 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345007 D RGD:9068941 20200609 RGD PMID:29404441|REF_RGD_ID:14700873 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345007 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:27490558|REF_RGD_ID:14700879 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2475 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:27324775|REF_RGD_ID:14700878 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:27960551|REF_RGD_ID:14700901 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9007651 Chronic Bronchitis ISO RGD:1345007 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:14593914|REF_RGD_ID:4889126 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9008616 Patent Ductus Venosus ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:24924401|REF_RGD_ID:14700900 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9008691 Liver Injury treatment ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:24963944|REF_RGD_ID:14700896 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9256 colorectal cancer ISO RGD:1345007 D RGD:9068941 20200609 RGD DNA:SNP:rs3813867 (human) PMID:30489355|REF_RGD_ID:14700897 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9261 nasopharynx carcinoma ISO RGD:1345007 D RGD:9068941 20200609 RGD DNA:SNP: :rs2031920 (human) PMID:26582733|REF_RGD_ID:11061495 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:10451 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:10679205|REF_RGD_ID:2313687 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345007 D RGD:9068941 20200609 RGD mRNA:increased expression:leukocyte PMID:12534643|REF_RGD_ID:2313686 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2475 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:10049703|REF_RGD_ID:2313688 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9452 fatty liver disease ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18952117 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9452 fatty liver disease ISO RGD:1345007 D RGD:9068941 20200609 RGD DNA:polymorphism:5' utr:reduced frequency of homozygotic C1 RFLP (PstI+, RsaI-) and increased frequency of C2 RFLP (PstI-,RsaI+) in Chinese patients PMID:14606109|REF_RGD_ID:1626302 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9452 fatty liver disease ISO RGD:2475 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:19404342|REF_RGD_ID:4892244 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1345007 D RGD:9068941 20200609 RGD mRNA:increased expression:leukocyte PMID:12743671|REF_RGD_ID:2313684 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11774269 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9970 obesity ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23954404 11731615 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9970 obesity ISO RGD:2475 D RGD:9068941 20200609 RGD protein:increased activity:liver,fat PMID:17049493|REF_RGD_ID:1626307 11731629 SYCE1 synaptonemal complex central element protein 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1352832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11731629 SYCE1 synaptonemal complex central element protein 1 gene DOID:0070172 spermatogenic failure 15 ISO RGD:1352832 D RGD:7240710 20190315 OMIM 11731629 SYCE1 synaptonemal complex central element protein 1 gene DOID:0070172 spermatogenic failure 15 ISO RGD:1352832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 15 PMID:25899990 11731629 SYCE1 synaptonemal complex central element protein 1 gene DOID:0080869 primary ovarian insufficiency 12 ISO RGD:1352832 D RGD:7240710 20190315 OMIM 11731629 SYCE1 synaptonemal complex central element protein 1 gene DOID:0080869 primary ovarian insufficiency 12 ISO RGD:1352832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 12 PMID:25062452|PMID:32917591 11731629 SYCE1 synaptonemal complex central element protein 1 gene DOID:13938 amenorrhea ISO RGD:1352832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11731629 SYCE1 synaptonemal complex central element protein 1 gene DOID:630 genetic disease ISO RGD:1352832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731651 GATA2 GATA binding protein 2 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:734291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26457647 11731651 GATA2 GATA binding protein 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:734291 D RGD:7240710 20230505 OMIM 11731651 GATA2 GATA binding protein 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:734291 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:20040766|PMID:21242295|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21892158|PMID:21892162|PMID:22147895|PMID:22271902|PMID:22533337|PMID:23365458|PMID:23502222|PMID:24077845|PMID:24227816|PMID:24266605|PMID:24345756|PMID:25359990|PMID:25676417|PMID:25741868|PMID:25879889|PMID:26492932|PMID:26702063|PMID:26812071|PMID:27288520|PMID:27418648|PMID:27577878|PMID:28492532|PMID:28747912|PMID:28947108|PMID:29588856|PMID:30578959|PMID:31035956|PMID:31340620|PMID:31350183|PMID:32135276|PMID:33510405|PMID:4508672 11731651 GATA2 GATA binding protein 2 gene DOID:0050908 myelodysplastic syndrome severity ISO RGD:734291 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow: PMID:12145700|REF_RGD_ID:10450753 11731651 GATA2 GATA binding protein 2 gene DOID:0111947 immunodeficiency 21 ISO RGD:734291 D RGD:7240710 20230505 OMIM 11731651 GATA2 GATA binding protein 2 gene DOID:0111947 immunodeficiency 21 ISO RGD:734291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COMBINED IMMUNODEFICIENCY WITH SUSCEPTIBILITY TO MYCOBACTERIAL, VIRAL, AND FUNGAL INFECTIONS | ClinVar Annotator: match by term: Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency | ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: MONOCYTOPENIA WITH SUSCEPTIBILITY TO MYCOBACTERIAL, FUNGAL, AND PAPILLOMAVIRUS INFECTIONS AND MYELODYSPLASIA | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:16199547|PMID:17576681|PMID:18250304|PMID:20040766|PMID:21242295|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21892158|PMID:21892162|PMID:22147895|PMID:22271902|PMID:22430350|PMID:22533337|PMID:22996659|PMID:23223431|PMID:23365458|PMID:23443460|PMID:23502222|PMID:23560626|PMID:23728141|PMID:24033149|PMID:24033266|PMID:24077845|PMID:24227816|PMID:24266605|PMID:24345756|PMID:24578498|PMID:24728327|PMID:24754962|PMID:24782121|PMID:25239263|PMID:25326637|PMID:25359990|PMID:2543925|PMID:25619630|PMID:25624456|PMID:25676417|PMID:25741868|PMID:25879889|PMID:26022708|PMID:26214525|PMID:26264606|PMID:26445707|PMID:26492932|PMID:26702063|PMID:26710799|PMID:26748574|PMID:26812071|PMID:27013649|PMID:27232273|PMID:27266944|PMID:27288520|PMID:27375010|PMID:27416790|PMID:27418648|PMID:27577878|PMID:27680514|PMID:27876779|PMID:27894982|PMID:27924436|PMID:28104920|PMID:28209719|PMID:28259234|PMID:28440875|PMID:28485484|PMID:28492532|PMID:28642594|PMID:28747912|PMID:28825694|PMID:28873162|PMID:28947108|PMID:29077208|PMID:29146883|PMID:29156497|PMID:29588856|PMID:29724903|PMID:29797310|PMID:29882021|PMID:29906362|PMID:30190467|PMID:30578959|PMID:30620726|PMID:30894283|PMID:31035956|PMID:31106410|PMID:31256854|PMID:31309983|PMID:31340620|PMID:31350183|PMID:31710708|PMID:31732620|PMID:31958074|PMID:32088370|PMID:32098966|PMID:32135276|PMID:32497548|PMID:32555368|PMID:32682923|PMID:32888943|PMID:32914014|PMID:33363905|PMID:33370941|PMID:33417088|PMID:33510405|PMID:33560389|PMID:33684095|PMID:33715335|PMID:34051752|PMID:4508672|PMID:453969|PMID:8701948|PMID:9536098 11731651 GATA2 GATA binding protein 2 gene DOID:1222 cartilage disease ISO RGD:734291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20707411 11731651 GATA2 GATA binding protein 2 gene DOID:12449 aplastic anemia ISO RGD:734291 D RGD:9068941 20200609 RGD mRNA:decreased expression:CD34+ cell PMID:11328281|REF_RGD_ID:11049519 11731651 GATA2 GATA binding protein 2 gene DOID:1596 depressive disorder ISO RGD:734291 D RGD:9068941 20200609 RGD PMID:25340772|REF_RGD_ID:11049534 11731651 GATA2 GATA binding protein 2 gene DOID:2349 arteriosclerosis ISO RGD:734291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 11731651 GATA2 GATA binding protein 2 gene DOID:2355 anemia ISO RGD:734291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia PMID:25741868|PMID:28492532 11731651 GATA2 GATA binding protein 2 gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:734291 D RGD:9068941 20210716 RGD PMID:25230694|REF_RGD_ID:149735195 11731651 GATA2 GATA binding protein 2 gene DOID:4977 lymphedema ISO RGD:734291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21892158 11731651 GATA2 GATA binding protein 2 gene DOID:630 genetic disease ISO RGD:734291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11731651 GATA2 GATA binding protein 2 gene DOID:865 vasculitis ISO RGD:734291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 11731651 GATA2 GATA binding protein 2 gene DOID:8692 myeloid leukemia disease_progression ISO RGD:734291 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L359V PMID:19304323|REF_RGD_ID:11049517 11731651 GATA2 GATA binding protein 2 gene DOID:9002514 Neointima ISO RGD:734291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 11731651 GATA2 GATA binding protein 2 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:734291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20707411 11731651 GATA2 GATA binding protein 2 gene DOID:9002720 Splenomegaly ISO RGD:734291 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Enlarged Spleen PMID:25741868|PMID:28492532 11731651 GATA2 GATA binding protein 2 gene DOID:9004771 Vascular Remodeling ISO RGD:734291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 11731651 GATA2 GATA binding protein 2 gene DOID:9005724 Fungal Lung Diseases ISO RGD:2664 D RGD:9068941 20200609 RGD associated with Pneumocystis Infections PMID:16774119|REF_RGD_ID:9587813 11731651 GATA2 GATA binding protein 2 gene DOID:9006709 Primary Graft Dysfunction ISO RGD:734291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 11731651 GATA2 GATA binding protein 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734291 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:22533337|PMID:24754962|PMID:25741868|PMID:26445707|PMID:28492532|PMID:28873162|PMID:29797310|PMID:33715335 11731651 GATA2 GATA binding protein 2 gene DOID:9008217 Hemorrhage ISO RGD:69110 D RGD:9068941 20200609 RGD PMID:22996665|REF_RGD_ID:11049511 11731651 GATA2 GATA binding protein 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:734291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20707411 11731651 GATA2 GATA binding protein 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:734291 D RGD:7240710 20230505 OMIM 11731651 GATA2 GATA binding protein 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:734291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:16199547|PMID:17576681|PMID:18250304|PMID:19449416|PMID:20040766|PMID:20803646|PMID:21242295|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21816832|PMID:21892158|PMID:21892162|PMID:21956389|PMID:22147895|PMID:22271902|PMID:22430350|PMID:22533337|PMID:22996659|PMID:2322343|PMID:23223431|PMID:23365458|PMID:23443460|PMID:23502222|PMID:23560626|PMID:23563236|PMID:23728141|PMID:24033149|PMID:24033266|PMID:24077845|PMID:24167460|PMID:24227816|PMID:24266605|PMID:24345756|PMID:24359037|PMID:24514424|PMID:24578498|PMID:24728327|PMID:24754962|PMID:24782121|PMID:25239263|PMID:25326637|PMID:25359990|PMID:2543925|PMID:25619630|PMID:25624456|PMID:25676417|PMID:25741868|PMID:25879889|PMID:25955867|PMID:26022708|PMID:26214525|PMID:26264606|PMID:26445707|PMID:26492932|PMID:26702063|PMID:26710799|PMID:26716079|PMID:26748574|PMID:26767875|PMID:26812071|PMID:27013649|PMID:27232273|PMID:27266944|PMID:27288520|PMID:27375010|PMID:27416790|PMID:27418648|PMID:27577878|PMID:27680514|PMID:27799394|PMID:27876779|PMID:27894982|PMID:27924436|PMID:28066994|PMID:28104920|PMID:28126493|PMID:28209719|PMID:28234738|PMID:28259234|PMID:28271814|PMID:28373026|PMID:28440875|PMID:28485484|PMID:28492532|PMID:28602958|PMID:28642594|PMID:28747912|PMID:28825694|PMID:28873162|PMID:28947108|PMID:29146883|PMID:29146900|PMID:29156497|PMID:29178327|PMID:29189513|PMID:29230432|PMID:29279357|PMID:29365323|PMID:29588856|PMID:29680795|PMID:29724903|PMID:29797310|PMID:29882021|PMID:29906362|PMID:29947977|PMID:30030275|PMID:30190467|PMID:30280306|PMID:30564229|PMID:30578959|PMID:30620726|PMID:30697248|PMID:30802360|PMID:30894283|PMID:31035956|PMID:31106410|PMID:31203817|PMID:31245276|PMID:31256854|PMID:31309983|PMID:31340620|PMID:31350183|PMID:31710708|PMID:31732620|PMID:31785092|PMID:31958074|PMID:32088370|PMID:32098966|PMID:32135276|PMID:32488879|PMID:32497548|PMID:32555368|PMID:32682923|PMID:32865708|PMID:32888943|PMID:32914014|PMID:33363905|PMID:33370941|PMID:33417088|PMID:33510405|PMID:33560389|PMID:33684095|PMID:33715335|PMID:33759087|PMID:33957466|PMID:34051752|PMID:4508672|PMID:453969|PMID:8701948|PMID:9536098 11731651 GATA2 GATA binding protein 2 gene DOID:9119 acute myeloid leukemia ISO RGD:734291 D RGD:7240710 20230505 OMIM 11731651 GATA2 GATA binding protein 2 gene DOID:9119 acute myeloid leukemia ISO RGD:734291 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to PMID:20040766|PMID:21242295|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21892158|PMID:21892162|PMID:22147895|PMID:22271902|PMID:22533337|PMID:23223431|PMID:23365458|PMID:23502222|PMID:24077845|PMID:24227816|PMID:24266605|PMID:24345756|PMID:24728327|PMID:25239263|PMID:25359990|PMID:25676417|PMID:25741868|PMID:25879889|PMID:26264606|PMID:26492932|PMID:26702063|PMID:26748574|PMID:26812071|PMID:27266944|PMID:27288520|PMID:27418648|PMID:27577878|PMID:28104920|PMID:28440875|PMID:28492532|PMID:28747912|PMID:28947108|PMID:29146883|PMID:29365323|PMID:29588856|PMID:29724903|PMID:29882021|PMID:30578959|PMID:30894283|PMID:31035956|PMID:31106410|PMID:31256854|PMID:31340620|PMID:31350183|PMID:32098966|PMID:32135276|PMID:33363905|PMID:33417088|PMID:33510405|PMID:4508672|PMID:8701948 11731651 GATA2 GATA binding protein 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:734291 D RGD:9068941 20200609 RGD PMID:22786876|PMID:25241285|REF_RGD_ID:11049510|REF_RGD_ID:11049515 11731651 GATA2 GATA binding protein 2 gene DOID:9270 alkaptonuria ISO RGD:734291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11731661 CENPBD1P Putative CENPB DNA-binding domain-containing protein 1 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1605600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 11731661 CENPBD1P Putative CENPB DNA-binding domain-containing protein 1 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1605600 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11731661 CENPBD1P Putative CENPB DNA-binding domain-containing protein 1 gene DOID:13636 Fanconi anemia ISO RGD:1605600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 11731661 CENPBD1P Putative CENPB DNA-binding domain-containing protein 1 gene DOID:630 genetic disease ISO RGD:1605600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731666 SNX14 sorting nexin 14 gene DOID:0050753 cerebellar ataxia ISO RGD:1322101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia 11731666 SNX14 sorting nexin 14 gene DOID:0080066 autosomal recessive spinocerebellar ataxia 20 ISO RGD:1322101 D RGD:7240710 20180130 OMIM 11731666 SNX14 sorting nexin 14 gene DOID:0080066 autosomal recessive spinocerebellar ataxia 20 ISO RGD:1322101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 20 PMID:24501761|PMID:25439728|PMID:25741868|PMID:25848753|PMID:27913285|PMID:28492532 11731666 SNX14 sorting nexin 14 gene DOID:1059 intellectual disability ISO RGD:1322101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25848753 11731666 SNX14 sorting nexin 14 gene DOID:1826 epilepsy ISO RGD:1322101 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:32581362 11731666 SNX14 sorting nexin 14 gene DOID:630 genetic disease ISO RGD:1322101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11731666 SNX14 sorting nexin 14 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1322101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11731666 SNX14 sorting nexin 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532 11731717 ANKRD12 ankyrin repeat domain 12 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1320836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11731717 ANKRD12 ankyrin repeat domain 12 gene DOID:10283 prostate cancer ISO RGD:1320836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11731717 ANKRD12 ankyrin repeat domain 12 gene DOID:1059 intellectual disability ISO RGD:1320836 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11731717 ANKRD12 ankyrin repeat domain 12 gene DOID:543 dystonia ISO RGD:1320836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 11731717 ANKRD12 ankyrin repeat domain 12 gene DOID:630 genetic disease ISO RGD:1320836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731734 SPAG5 sperm associated antigen 5 gene DOID:0080600 COVID-19 ISO RGD:736242 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11731734 SPAG5 sperm associated antigen 5 gene DOID:4362 cervical cancer severity ISO RGD:736242 D RGD:9068941 20230128 RGD mRNA, protein:increased expression:cervix (human) PMID:35853859|REF_RGD_ID:155882439 11731734 SPAG5 sperm associated antigen 5 gene DOID:630 genetic disease ISO RGD:736242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731734 SPAG5 sperm associated antigen 5 gene DOID:9003281 Spontaneous Abortions ISO RGD:736242 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11731772 HOXD8 homeobox D8 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1351859 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11731772 HOXD8 homeobox D8 gene DOID:630 genetic disease ISO RGD:1351859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731784 TTC23 tetratricopeptide repeat domain 23 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1601741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 11731784 TTC23 tetratricopeptide repeat domain 23 gene DOID:4501 orofaciodigital syndrome ISO RGD:1601741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome 11731818 MTARC2 mitochondrial amidoxime reducing component 2 gene DOID:0050439 Usher syndrome ISO RGD:1606267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 11731818 MTARC2 mitochondrial amidoxime reducing component 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1606267 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 11731818 MTARC2 mitochondrial amidoxime reducing component 2 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1606267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 11731818 MTARC2 mitochondrial amidoxime reducing component 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1606267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11731818 MTARC2 mitochondrial amidoxime reducing component 2 gene DOID:670 amphetamine abuse ISO RGD:1606267 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11731818 MTARC2 mitochondrial amidoxime reducing component 2 gene DOID:9006949 Martsolf Syndrome ISO RGD:1606267 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 11731818 MTARC2 mitochondrial amidoxime reducing component 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:731305 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:21330466|REF_RGD_ID:5684550 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:731305 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:0060180 colitis ISO RGD:3213 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:dorsal root ganglion PMID:20638179|REF_RGD_ID:5684542 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:0080285 developmental and epileptic encephalopathy 58 ISO RGD:731305 D RGD:7240710 20190315 OMIM 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:0080285 developmental and epileptic encephalopathy 58 ISO RGD:731305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 58 PMID:25741868|PMID:28492532|PMID:29100083 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:11023 D RGD:9068941 20200609 RGD PMID:20553714|REF_RGD_ID:5684901 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:10652 Alzheimer's disease ISO RGD:11023 D RGD:9068941 20200609 RGD PMID:21900882|REF_RGD_ID:5684548 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:10652 Alzheimer's disease ISO RGD:731305 D RGD:9068941 20200609 RGD sporadic AD; DNA:SNP:intron:rs2289656 PMID:18780967|REF_RGD_ID:5508228 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:10652 Alzheimer's disease treatment ISO RGD:3213 D RGD:9068941 20200609 RGD PMID:24877042|REF_RGD_ID:10059402 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:1094 attention deficit hyperactivity disorder treatment ISO RGD:3213 D RGD:9068941 20200609 RGD PMID:25061595|REF_RGD_ID:10059388 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:11981 morbid obesity onset ISO RGD:731305 D RGD:9068941 20200609 RGD protein:substitution:Y722C;severe early-onset PMID:16702999|REF_RGD_ID:1626135 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:12217 Lewy body dementia ISO RGD:731305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:12849 autistic disorder ISO RGD:731305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20662941 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:12849 autistic disorder ISO RGD:731305 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:20662941|REF_RGD_ID:5684891 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:1470 major depressive disorder ISO RGD:731305 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2289657, rs56142442 (human) PMID:19844206|REF_RGD_ID:5684911 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:1470 major depressive disorder ISO RGD:731305 D RGD:9068941 20200609 RGD mRNA:decreased expression:depression PMID:21223646|REF_RGD_ID:5684778 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:1470 major depressive disorder severity ISO RGD:731305 D RGD:9068941 20200609 RGD DNA:SNPs: : (human) PMID:20124106|REF_RGD_ID:5684909 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:1596 depressive disorder ISO RGD:1552406 D RGD:9068941 20200609 RGD PMID:20956301|REF_RGD_ID:5684782 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:1596 depressive disorder ISO RGD:3213 D RGD:9068941 20200609 RGD PMID:22097208|REF_RGD_ID:5684923 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:1686 glaucoma ISO RGD:3213 D RGD:9068941 20200609 RGD PMID:20357199|REF_RGD_ID:5684908 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:1686 glaucoma ISO RGD:3213 D RGD:9068941 20200609 RGD protein:increased expression:eye: PMID:10711692|REF_RGD_ID:8655608 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:1824 status epilepticus ISO RGD:731305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8635431|PMID:8821376 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:1826 epilepsy ISO RGD:731305 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:2055 post-traumatic stress disorder ISO RGD:3213 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:20863519|REF_RGD_ID:5684783 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:3069 malignant astrocytoma ISO RGD:731305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23817572 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:3070 high grade glioma ISO RGD:731305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24705251 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:3312 bipolar disorder ISO RGD:731305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19018715 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:3312 bipolar disorder ISO RGD:731305 D RGD:9068941 20200609 RGD protein:decreased expression:cerebellum PMID:21612826|REF_RGD_ID:5684549 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:3328 temporal lobe epilepsy ISO RGD:3213 D RGD:9068941 20200609 RGD protein:increased expression:forebrain, postsynaptic density PMID:11226670|REF_RGD_ID:5147998 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:3770 pulmonary fibrosis ISO RGD:11023 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:21330466|REF_RGD_ID:5684550 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:5419 schizophrenia ISO RGD:731305 D RGD:9068941 20200609 RGD mRNA:decreased expression:depression PMID:21223646|REF_RGD_ID:5684778 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:630 genetic disease ISO RGD:731305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29100083 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:769 neuroblastoma ISO RGD:731305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26822237 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3213 D RGD:9068941 20200609 RGD PMID:20597685|PMID:22027236|REF_RGD_ID:5684547|REF_RGD_ID:5684898 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9000106 Oculomotor Nerve Injuries ISO RGD:3213 D RGD:9068941 20200609 RGD mRNA:increased expression:motor neuron PMID:21456016|REF_RGD_ID:5684341 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:3213 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:21603940|REF_RGD_ID:5684913 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:3213 D RGD:9068941 20200609 RGD PMID:21193742|REF_RGD_ID:5684779 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:3213 D RGD:9068941 20200609 RGD PMID:20557422|REF_RGD_ID:4891134 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9002211 Hyperalgesia ISO RGD:11023 D RGD:9068941 20200609 RGD PMID:12470870|REF_RGD_ID:8657091 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9002211 Hyperalgesia ISO RGD:3213 D RGD:9068941 20200609 RGD associated with inflammation;protein:increased expression:dorsal root ganglion: PMID:21958434|REF_RGD_ID:8657122 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9002362 Hyperkinesis ISO RGD:731305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20826313|PMID:20947769 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9002916 Hyperphagia ISO RGD:731305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15494731 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9002953 Escherichia Coli Infections onset ISO RGD:3213 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:21411668|REF_RGD_ID:5684914 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9005372 Inflammation ISO RGD:3213 D RGD:9068941 20200609 RGD protein:increased expression:hindpaw: PMID:21958434|REF_RGD_ID:8657122 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20826313|PMID:20947769 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9008086 Developmental Disabilities ISO RGD:731305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15494731 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9008091 Optic Nerve Injuries ISO RGD:3213 D RGD:9068941 20200609 RGD PMID:20357199|REF_RGD_ID:5684908 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9008520 Chronic Pain ISO RGD:3213 D RGD:9068941 20200609 RGD protein:increased expression:frontal cortex, neuron PMID:11360665|REF_RGD_ID:5684922 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9008582 Developmental Disease ISO RGD:731305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:28492532 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9008733 Obesity, Hyperphagia, and Developmental Delay ISO RGD:731305 D RGD:7240710 20180130 OMIM 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9008733 Obesity, Hyperphagia, and Developmental Delay ISO RGD:731305 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Obesity, hyperphagia, and developmental delay PMID:15494731|PMID:25741868|PMID:27884935|PMID:28492532|PMID:29100083 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9470 bacterial meningitis ISO RGD:11023 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hippocampus PMID:16141791|REF_RGD_ID:5684920 11731837 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9970 obesity ISO RGD:731305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity 11731873 PRSS54 serine protease 54 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:3438752 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11731873 PRSS54 serine protease 54 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:3438752 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11731873 PRSS54 serine protease 54 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:3438752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11731873 PRSS54 serine protease 54 gene DOID:630 genetic disease ISO RGD:3438752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731888 COG3 component of oligomeric golgi complex 3 gene DOID:630 genetic disease ISO RGD:1312059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731889 STYXL1 serine/threonine/tyrosine interacting like 1 gene DOID:1826 epilepsy ISO RGD:1353281 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11731889 STYXL1 serine/threonine/tyrosine interacting like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11731889 STYXL1 serine/threonine/tyrosine interacting like 1 gene DOID:630 genetic disease ISO RGD:1353281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731889 STYXL1 serine/threonine/tyrosine interacting like 1 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1353281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 11731974 DDX42 DEAD-box helicase 42 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1312619 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone marrow mononuclear cell (human) PMID:16211284|REF_RGD_ID:9850279 11731974 DDX42 DEAD-box helicase 42 gene DOID:630 genetic disease ISO RGD:1312619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11731974 DDX42 DEAD-box helicase 42 gene DOID:9007346 Cachexia ISO RGD:1304909 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:gastrocnemius muscle (rat) PMID:14718385|REF_RGD_ID:1641826 11731974 DDX42 DEAD-box helicase 42 gene DOID:9007346 Cachexia ISO RGD:1312620 D RGD:9068941 20200609 RGD associated with Malnutrition;mRNA:increased expression:gastrocnemius muscle (mouse) PMID:14718385|REF_RGD_ID:1641826 11732006 WNT8B Wnt family member 8B gene DOID:10487 Hirschsprung's disease ISO RGD:1316953 D RGD:9068941 20200609 RGD PMID:20972907|REF_RGD_ID:12801434 11732006 WNT8B Wnt family member 8B gene DOID:630 genetic disease ISO RGD:1316953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732015 HES6 hes family bHLH transcription factor 6 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1323828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11732015 HES6 hes family bHLH transcription factor 6 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1323828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11732015 HES6 hes family bHLH transcription factor 6 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1323828 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11732015 HES6 hes family bHLH transcription factor 6 gene DOID:1059 intellectual disability ISO RGD:1323828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11732015 HES6 hes family bHLH transcription factor 6 gene DOID:630 genetic disease ISO RGD:1323828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732015 HES6 hes family bHLH transcription factor 6 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1323828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11732020 ZFAND3 zinc finger AN1-type containing 3 gene DOID:630 genetic disease ISO RGD:1316115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732020 ZFAND3 zinc finger AN1-type containing 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1316115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11732020 ZFAND3 zinc finger AN1-type containing 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1316115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22158537 11732033 LOC100972336 acyl-CoA synthetase medium chain family member 1 gene DOID:630 genetic disease ISO RGD:1315639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732033 LOC100972336 acyl-CoA synthetase medium chain family member 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1315639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17114358 11732049 SF3B5 splicing factor 3b subunit 5 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1345762 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:28492532 11732054 CHCHD3 coiled-coil-helix-coiled-coil-helix domain containing 3 gene DOID:303 substance-related disorder ISO RGD:1321163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11732054 CHCHD3 coiled-coil-helix-coiled-coil-helix domain containing 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11732054 CHCHD3 coiled-coil-helix-coiled-coil-helix domain containing 3 gene DOID:630 genetic disease ISO RGD:1321163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732074 RIMS4 regulating synaptic membrane exocytosis 4 gene DOID:2234 focal epilepsy ISO RGD:1350639 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11732074 RIMS4 regulating synaptic membrane exocytosis 4 gene DOID:630 genetic disease ISO RGD:1350639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732074 RIMS4 regulating synaptic membrane exocytosis 4 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1350639 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11732088 SKA3 spindle and kinetochore associated complex subunit 3 gene DOID:630 genetic disease ISO RGD:1316254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732088 SKA3 spindle and kinetochore associated complex subunit 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1316254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11732111 HOXC6 homeobox C6 gene DOID:630 genetic disease ISO RGD:1348360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732111 HOXC6 homeobox C6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:0050606 acrokeratosis verruciformis ISO RGD:731733 D RGD:7240710 20180808 OMIM 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:0050606 acrokeratosis verruciformis ISO RGD:731733 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Acrokeratosis verruciformis of Hopf PMID:12542527|PMID:20518781|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:10825 essential hypertension susceptibility ISO RGD:731733 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.A724A (c.2171G>A)(human) PMID:20687374|REF_RGD_ID:13507310 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:114 heart disease ISO RGD:2174 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X PMID:23458196|REF_RGD_ID:7327178 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:114 heart disease ISO RGD:731733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19328205 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:14221 abdominal obesity-metabolic syndrome 1 ISO RGD:2174 D RGD:9068941 20200609 RGD protein:increased oxidation:cardiac muscle cell PMID:23997093|REF_RGD_ID:13782087 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:1459 hypothyroidism ISO RGD:2174 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle PMID:21217071|REF_RGD_ID:6904140 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:1824 status epilepticus ISO RGD:731733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15288437 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:2734 keratosis follicularis ISO RGD:731733 D RGD:7240710 20180130 OMIM 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:2734 keratosis follicularis ISO RGD:731733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Keratosis follicularis PMID:10080178|PMID:10441323|PMID:10441324|PMID:10441325|PMID:11168576|PMID:11244492|PMID:12072062|PMID:19216760|PMID:20423818|PMID:21519848|PMID:23356892|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30345710 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:2856 euthyroid sick syndrome treatment ISO RGD:2174 D RGD:9068941 20200609 RGD associated with congestive heart failure PMID:27737323|REF_RGD_ID:13782084 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:6000 congestive heart failure ISO RGD:2174 D RGD:9068941 20200609 RGD PMID:21691940|REF_RGD_ID:6903963 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:6000 congestive heart failure ISO RGD:731733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19776660 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:630 genetic disease ISO RGD:731733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:6432 pulmonary hypertension ISO RGD:2174 D RGD:9068941 20200609 RGD PMID:27144451|REF_RGD_ID:13782086 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:6432 pulmonary hypertension treatment ISO RGD:731733 D RGD:9068941 20200609 RGD PMID:23804254|REF_RGD_ID:13782089 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2174 D RGD:9068941 20200609 RGD protein:decreased expression:tail, skeletal muscle PMID:21930674|REF_RGD_ID:13782071 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9001636 Darier Disease, Segmental ISO RGD:731733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Darier disease, segmental PMID:11121153 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:731733 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21217071 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9001956 Darier Disease, Acral Hemorrhagic Type ISO RGD:731733 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Darier disease, acral hemorrhagic type PMID:10441324|PMID:25741868 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9002514 Neointima treatment ISO RGD:731733 D RGD:9068941 20200609 RGD PMID:23535897|REF_RGD_ID:13782090 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9003936 Cardiomegaly ISO RGD:731733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11679415 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9003936 Cardiomegaly treatment ISO RGD:2174 D RGD:9068941 20200609 RGD PMID:29792884|REF_RGD_ID:13782078 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9005141 Ventricular Tachycardia susceptibility ISO RGD:731733 D RGD:9068941 20200609 RGD associated with heart failure;DNA:SNP: :rs186056(human) PMID:24048583|REF_RGD_ID:13507307 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2174 D RGD:9068941 20200609 RGD PMID:20122173|PMID:28483572|REF_RGD_ID:12910731|REF_RGD_ID:13782130 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2174 D RGD:9068941 20200609 RGD protein:increased carbonylation:heart PMID:21300842|REF_RGD_ID:6904139 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9005725 Iron Overload ISO RGD:2174 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:27222135|REF_RGD_ID:13782085 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:2174 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21441944|REF_RGD_ID:6771209 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:731733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16685413 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9007346 Cachexia ISO RGD:2174 D RGD:9068941 20200609 RGD associated with hepatocellular carcinoma PMID:23200745|REF_RGD_ID:13782066 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:2174 D RGD:9068941 20200609 RGD PMID:18416460|REF_RGD_ID:13782074 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10734148 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2174 D RGD:9068941 20200609 RGD PMID:28637456|REF_RGD_ID:13782080 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2174 D RGD:9068941 20200609 RGD PMID:22009485|PMID:27222135|REF_RGD_ID:13782085|REF_RGD_ID:6771327 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2174 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle PMID:21216827|REF_RGD_ID:6892953 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 11732134 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9767 myocardial stunning ISO RGD:731733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16317512 11732181 SWSAP1 SWIM-type zinc finger 7 associated protein 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1601725 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11732181 SWSAP1 SWIM-type zinc finger 7 associated protein 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1601725 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11732181 SWSAP1 SWIM-type zinc finger 7 associated protein 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1601725 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11732181 SWSAP1 SWIM-type zinc finger 7 associated protein 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1601725 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11732181 SWSAP1 SWIM-type zinc finger 7 associated protein 1 gene DOID:630 genetic disease ISO RGD:1601725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732187 ZC3HAV1 zinc finger CCCH-type containing, antiviral 1 gene DOID:0080690 RASopathy ISO RGD:736106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 11732187 ZC3HAV1 zinc finger CCCH-type containing, antiviral 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11732187 ZC3HAV1 zinc finger CCCH-type containing, antiviral 1 gene DOID:630 genetic disease ISO RGD:736106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732213 BRINP1 BMP/retinoic acid inducible neural specific 1 gene DOID:0060041 autism spectrum disorder ISO RGD:734244 D RGD:9068941 20220825 MouseDO 11732213 BRINP1 BMP/retinoic acid inducible neural specific 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:734244 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 11732213 BRINP1 BMP/retinoic acid inducible neural specific 1 gene DOID:630 genetic disease ISO RGD:1352710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732225 UBE2D3 ubiquitin conjugating enzyme E2 D3 gene DOID:3633 beta-mannosidosis ISO RGD:1344235 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 11732248 FEZ1 fasciculation and elongation protein zeta 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:732377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11732248 FEZ1 fasciculation and elongation protein zeta 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:732377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11732248 FEZ1 fasciculation and elongation protein zeta 1 gene DOID:14330 Parkinson's disease ISO RGD:619708 D RGD:9068941 20200609 RGD PMID:23888906|REF_RGD_ID:13208826 11732248 FEZ1 fasciculation and elongation protein zeta 1 gene DOID:5419 schizophrenia ISO RGD:732377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11732248 FEZ1 fasciculation and elongation protein zeta 1 gene DOID:630 genetic disease ISO RGD:732377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732248 FEZ1 fasciculation and elongation protein zeta 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:732377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11732248 FEZ1 fasciculation and elongation protein zeta 1 gene DOID:9007661 Dwarfism ISO RGD:732377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11732268 RPL28 ribosomal protein L28 gene DOID:3525 middle cerebral artery infarction ISO RGD:621193 D RGD:9068941 20200609 RGD PMID:16805800|REF_RGD_ID:6480229 11732268 RPL28 ribosomal protein L28 gene DOID:630 genetic disease ISO RGD:733961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732268 RPL28 ribosomal protein L28 gene DOID:9004657 Weight Gain ISO RGD:733961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11732283 MTF2 metal response element binding transcription factor 2 gene DOID:630 genetic disease ISO RGD:1605093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732320 TRAIP TRAF interacting protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1601884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 11732320 TRAIP TRAF interacting protein gene DOID:0070005 Seckel syndrome 9 ISO RGD:1601884 D RGD:7240710 20190315 OMIM 11732320 TRAIP TRAF interacting protein gene DOID:0070005 Seckel syndrome 9 ISO RGD:1601884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seckel syndrome 9 PMID:25741868|PMID:26595769|PMID:28492532|PMID:31974414 11732320 TRAIP TRAF interacting protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1601884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 11732320 TRAIP TRAF interacting protein gene DOID:10907 microcephaly ISO RGD:1601884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26595769 11732320 TRAIP TRAF interacting protein gene DOID:630 genetic disease ISO RGD:1601884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11732320 TRAIP TRAF interacting protein gene DOID:684 hepatocellular carcinoma ISO RGD:1601884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11732320 TRAIP TRAF interacting protein gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1601884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11732320 TRAIP TRAF interacting protein gene DOID:9007661 Dwarfism ISO RGD:1601884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26595769 11732320 TRAIP TRAF interacting protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:1601884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11732339 ACAD9 acyl-CoA dehydrogenase family member 9 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1348095 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:16199547|PMID:20816094|PMID:20929961|PMID:21057504|PMID:22200994|PMID:22277967|PMID:22499348|PMID:25326637|PMID:25721401|PMID:25741868|PMID:26467025|PMID:26669660|PMID:27290639|PMID:28279569|PMID:28492532|PMID:28529009|PMID:30025539|PMID:30831263|PMID:31658717|PMID:34023438|PMID:34440436 11732339 ACAD9 acyl-CoA dehydrogenase family member 9 gene DOID:0110159 Charcot-Marie-Tooth disease type 2B ISO RGD:1348095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B PMID:28492532 11732339 ACAD9 acyl-CoA dehydrogenase family member 9 gene DOID:0111947 immunodeficiency 21 ISO RGD:1348095 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:22147895|PMID:23223431|PMID:28492532 11732339 ACAD9 acyl-CoA dehydrogenase family member 9 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:1348095 D RGD:7240710 20180130 OMIM 11732339 ACAD9 acyl-CoA dehydrogenase family member 9 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:1348095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 PMID:16199547|PMID:17564966|PMID:17576681|PMID:20816094|PMID:20929961|PMID:21057504|PMID:22200994|PMID:22277967|PMID:22499348|PMID:23836383|PMID:25326637|PMID:25721401|PMID:25741868|PMID:26467025|PMID:26475292|PMID:26669660|PMID:27233227|PMID:27290639|PMID:27438479|PMID:27884173|PMID:28279569|PMID:28492532|PMID:28529009|PMID:30025539|PMID:30311383|PMID:30831263|PMID:31658717|PMID:31665838|PMID:32313153|PMID:32746448|PMID:34023438|PMID:34440436|PMID:7599230|PMID:9536098 11732339 ACAD9 acyl-CoA dehydrogenase family member 9 gene DOID:630 genetic disease ISO RGD:1348095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:25326637|PMID:25721401|PMID:25741868|PMID:26475292|PMID:27233227|PMID:28492532|PMID:30831263|PMID:9536098 11732339 ACAD9 acyl-CoA dehydrogenase family member 9 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1348095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:23223431|PMID:25741868|PMID:26710799|PMID:28492532 11732339 ACAD9 acyl-CoA dehydrogenase family member 9 gene DOID:9270 alkaptonuria ISO RGD:1348095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11732364 HIGD2A HIG1 hypoxia inducible domain family member 2A gene DOID:0060071 pre-malignant neoplasm ISO RGD:1603886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11732364 HIGD2A HIG1 hypoxia inducible domain family member 2A gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1603886 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11732364 HIGD2A HIG1 hypoxia inducible domain family member 2A gene DOID:0112103 Sotos syndrome 1 ISO RGD:1603886 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11732364 HIGD2A HIG1 hypoxia inducible domain family member 2A gene DOID:630 genetic disease ISO RGD:1603886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732364 HIGD2A HIG1 hypoxia inducible domain family member 2A gene DOID:9007188 Liver Neoplasms ISO RGD:1603886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11732370 P2RY2 purinergic receptor P2Y2 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1352486 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11732370 P2RY2 purinergic receptor P2Y2 gene DOID:1059 intellectual disability ISO RGD:1352486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11732370 P2RY2 purinergic receptor P2Y2 gene DOID:1875 impotence ISO RGD:62088 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19303093|REF_RGD_ID:2315809 11732370 P2RY2 purinergic receptor P2Y2 gene DOID:630 genetic disease ISO RGD:1352486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732370 P2RY2 purinergic receptor P2Y2 gene DOID:9007993 Dehydration ISO RGD:62088 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:inner renal medulla PMID:15687250|REF_RGD_ID:2316687 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:0050073 invasive aspergillosis ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:21423669|REF_RGD_ID:5508765 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:0050553 JMP syndrome ISO RGD:737312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:0050589 inflammatory bowel disease ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:21939913|REF_RGD_ID:6767556 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:0050697 chorioamnionitis ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:22578261|REF_RGD_ID:6767308 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:0050850 diabetic encephalopathy treatment ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23529380|PMID:24291733|REF_RGD_ID:7244255|REF_RGD_ID:8553040 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:0050851 glomerulosclerosis ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:23046363|REF_RGD_ID:7243247 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:0050851 glomerulosclerosis treatment ISO RGD:737313 D RGD:9068941 20200609 RGD associated with Diabetic Nephropathies PMID:20554645|REF_RGD_ID:7244139 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:0050855 renal fibrosis ISO RGD:737312 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (kidney) PMID:22669512|REF_RGD_ID:7245533 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:0050855 renal fibrosis ISO RGD:737313 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22698914|REF_RGD_ID:7243851 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:0050855 renal fibrosis treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:21704028|REF_RGD_ID:7244186 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:0060224 atrial fibrillation ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:21652096|REF_RGD_ID:6767560 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:0080162 lupus nephritis ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, intron:g.-429T>C rs1800625, g.-374T>A rs1800624, g.2184A>G rs3134940 (human) PMID:22513366|REF_RGD_ID:6767309 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:0080199 colorectal carcinoma treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:22467055|REF_RGD_ID:7245559 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:0080322 polycystic kidney disease ISO RGD:737313 D RGD:9068941 20200609 RGD protein:increased expression:kidney (mouse) PMID:20606421|REF_RGD_ID:7244164 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:0080820 occupational asthma ISO RGD:737312 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:33075463 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:0080832 mild cognitive impairment ISO RGD:737312 D RGD:9068941 20230406 RGD PMID:22415896|REF_RGD_ID:7245561 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:10283 prostate cancer ISO RGD:737312 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland (human) PMID:15666359|REF_RGD_ID:7243251 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:10646 schizotypal personality disorder susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.G82S rs2070600 (human) PMID:22146151|REF_RGD_ID:6767315 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:10652 Alzheimer's disease ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:23396166|REF_RGD_ID:7244266 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:10652 Alzheimer's disease ISO RGD:737312 D RGD:9068941 20200609 RGD protein:increased expression:brain (human) PMID:8751438|REF_RGD_ID:1300365 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:10652 Alzheimer's disease ISO RGD:737312 D RGD:9068941 20230406 RGD PMID:22415896|REF_RGD_ID:7245561 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:10652 Alzheimer's disease ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:22745485|REF_RGD_ID:6784502 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:10652 Alzheimer's disease ISO RGD:737313 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus, cerebral cortex (mouse) PMID:23164356|REF_RGD_ID:7244287 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:10652 Alzheimer's disease treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:23396166|REF_RGD_ID:7244266 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:10652 Alzheimer's disease treatment ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:21593432|REF_RGD_ID:7245965 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:10763 hypertension ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:19018797|REF_RGD_ID:2325653 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:10763 hypertension ISO RGD:737312 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32147540 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:10941 intracranial aneurysm ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23844137|REF_RGD_ID:8547935 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:11394 adult respiratory distress syndrome ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:16456142|REF_RGD_ID:1625343 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:11476 osteoporosis ISO RGD:69258 D RGD:9068941 20200609 RGD mRNA:increased expression:proximal end of left femur (rat) PMID:22036861|REF_RGD_ID:7245948 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:11476 osteoporosis ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:21542009|REF_RGD_ID:6767561 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:11713 diabetic angiopathy ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20372816 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:11981 morbid obesity treatment ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:22828946|REF_RGD_ID:7243249 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:12217 Lewy body dementia ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16141792 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:1287 cardiovascular system disease ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic; protein:increased expression:myocardium, aorta (rat) PMID:20056977|REF_RGD_ID:7244145 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:polymorphism:promoter:-374T>A (human) PMID:12606536|REF_RGD_ID:1566451 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetic Nephropathies; DNA:deletion, polymorphisms, haplotype:promoter:g.-407_-345del, g.-374T>A, g.-429T>C (human) PMID:20040351|REF_RGD_ID:7244158 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:12918 thromboangiitis obliterans ISO RGD:69258 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:femoral artery (rat) PMID:23069071|REF_RGD_ID:7207785 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:12918 thromboangiitis obliterans treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:23069071|REF_RGD_ID:7207785 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:13207 proliferative diabetic retinopathy ISO RGD:737312 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor PMID:16364297|REF_RGD_ID:8695978 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:13378 Kawasaki disease severity ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:22337222|REF_RGD_ID:8695960 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:13564 aspergillosis ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-374T>A (human) PMID:22114731|REF_RGD_ID:8695981 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:1395 schistosomiasis ISO RGD:737313 D RGD:9068941 20200609 RGD protein:decreased expression:lung (mouse) PMID:23369670|REF_RGD_ID:7243187 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:14115 toxic shock syndrome ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:21270403|REF_RGD_ID:6767566 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:1485 cystic fibrosis ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:24127697|REF_RGD_ID:8695959 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:1485 cystic fibrosis ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:24127697|REF_RGD_ID:8695959 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:1485 cystic fibrosis severity ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype:promoter:g.-429T>C rs1800625 (human) PMID:21993476|REF_RGD_ID:6767553 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:1793 pancreatic cancer ISO RGD:737312 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:20398646|REF_RGD_ID:2325643 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:1875 impotence treatment ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23698784|REF_RGD_ID:7244246 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:1891 optic nerve disease ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Alzheimer Disease;protein:increased expression:optic nerve PMID:19277685|REF_RGD_ID:8695971 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:1909 melanoma treatment ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:15009731|REF_RGD_ID:8695970 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:1936 atherosclerosis ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:20835270|REF_RGD_ID:6784516 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:1936 atherosclerosis ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19939336|PMID:20372816 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:1936 atherosclerosis ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic; protein:decreased expression:plasma (human) PMID:21906738|REF_RGD_ID:6767557 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:1936 atherosclerosis ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:21418204|PMID:22552116|REF_RGD_ID:6784514|REF_RGD_ID:6784515 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:1936 atherosclerosis treatment ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:22038096|PMID:23936343|REF_RGD_ID:7245947|REF_RGD_ID:8695994 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:224 transient cerebral ischemia ISO RGD:69258 D RGD:9068941 20200609 RGD protein:altered expression:cerebral cortex, striatum (rat) PMID:22528836|REF_RGD_ID:7245542 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:224 transient cerebral ischemia ISO RGD:737313 D RGD:9068941 20200609 RGD protein:increased expression:brain, plasma PMID:23288172|REF_RGD_ID:8696004 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:2316 brain ischemia ISO RGD:69258 D RGD:9068941 20200609 RGD mRNA:increased expression:pyramidal cell, hippocampus PMID:12618340|REF_RGD_ID:1625348 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:2377 multiple sclerosis susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.G82S rs2070600 (human) PMID:21511691|REF_RGD_ID:6767562 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:2508 Takayasu's arteritis ISO RGD:737312 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:20579752|REF_RGD_ID:8695992 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:26 pancreas disease ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24036142 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:2773 contact dermatitis ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:23594597|REF_RGD_ID:8695987 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:2841 asthma ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:21920897|REF_RGD_ID:6767554 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:2841 asthma ISO RGD:737312 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:33075463 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:2841 asthma onset ISO RGD:69258 D RGD:9068941 20200609 RGD protein:decreased expression:lung (rat) PMID:23304218|REF_RGD_ID:7244279 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:2841 asthma treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:23304218|REF_RGD_ID:7244279 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:3008 invasive ductal carcinoma ISO RGD:737312 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:22366088|REF_RGD_ID:8695990 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:3021 acute kidney failure ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:21811803|REF_RGD_ID:7243868 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:20133931|REF_RGD_ID:6767312 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:3393 coronary artery disease ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Mucocutaneous Lymph Node Syndrome PMID:22337222|REF_RGD_ID:8695960 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:3393 coronary artery disease susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.G82S (human) PMID:20668462|REF_RGD_ID:6767569 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:3407 carotid artery disease ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, cerebral cortex (rat) PMID:21813211|REF_RGD_ID:7245955 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:3407 carotid artery disease ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:21906738|REF_RGD_ID:6767557 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:3525 middle cerebral artery infarction ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24211797|REF_RGD_ID:8696008 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:3525 middle cerebral artery infarction ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25446913 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:3526 cerebral infarction ISO RGD:737312 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:23288172|REF_RGD_ID:8696004 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:3770 pulmonary fibrosis ISO RGD:69258 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung PMID:24226635|REF_RGD_ID:8695997 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:3770 pulmonary fibrosis ISO RGD:737312 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (human) PMID:22669512|REF_RGD_ID:7245533 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:737312 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung (human) PMID:15539404|REF_RGD_ID:7245515 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:399 tuberculosis severity ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:22698798|REF_RGD_ID:6767307 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:4001 ovarian carcinoma ISO RGD:737312 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:418 systemic scleroderma ISO RGD:737312 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18825489|REF_RGD_ID:8695973 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:418 systemic scleroderma ISO RGD:737313 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18825489|REF_RGD_ID:8695973 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:4195 hyperglycemia ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24036142 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:4467 clear cell renal cell carcinoma ISO RGD:737312 D RGD:9068941 20200609 RGD mRNA:increased expression:renal cortex (human) PMID:21947243|REF_RGD_ID:7244181 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:4676 uremia ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:peritoneal cavity lining PMID:16757496|REF_RGD_ID:1625341 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:5082 liver cirrhosis ISO RGD:737312 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (liver) PMID:22669512|REF_RGD_ID:7245533 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:5199 ureteral obstruction ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:23677242|REF_RGD_ID:7243949 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:520 aortic disease treatment ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22644855|REF_RGD_ID:7245538 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:5419 schizophrenia susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.G82S rs2070600 (human) PMID:22146151|REF_RGD_ID:6767315 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:557 kidney disease ISO RGD:737313 D RGD:9068941 20200609 RGD associated with Obesity PMID:21412218|REF_RGD_ID:7243938 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:576 proteinuria susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1; DNA:polymorphism:promoter:-374T>A (human) PMID:12606536|REF_RGD_ID:1566451 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:5844 myocardial infarction ISO RGD:69258 D RGD:9068941 20200609 RGD mRNA:increased expression:left ventricle myocardium (rat) PMID:19910580|REF_RGD_ID:2325647 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:5844 myocardial infarction susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-429T>C (human) PMID:16728681|REF_RGD_ID:1625333 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:6000 congestive heart failure severity ISO RGD:737312 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:20685687|REF_RGD_ID:7244134 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:630 genetic disease ISO RGD:737312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:6432 pulmonary hypertension ISO RGD:737312 D RGD:9068941 20200609 RGD protein:increased expression:lung (human) PMID:21041689|REF_RGD_ID:7244258 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:7148 rheumatoid arthritis ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16385501 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:7148 rheumatoid arthritis ISO RGD:737312 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:20541603|REF_RGD_ID:7244141 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:77 gastrointestinal system disease ISO RGD:69258 D RGD:9068941 20200609 RGD Diabetic Gastrointestinal Disorder, associated with Diabetes Mellitus, Experimental; mRNA:increased expression:jejunum (rat) PMID:23002359|REF_RGD_ID:7244385 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:77 gastrointestinal system disease treatment ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23002359|REF_RGD_ID:7244385 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:783 end stage renal disease ISO RGD:737312 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21822023|REF_RGD_ID:7243867 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:784 chronic kidney disease ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:21432860|REF_RGD_ID:7243958 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:784 chronic kidney disease ISO RGD:737312 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21822023|REF_RGD_ID:7243867 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:784 chronic kidney disease disease_progression ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:g.-374T>A (human) PMID:23593165|REF_RGD_ID:7243185 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:784 chronic kidney disease severity ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, intron:g.-429T>C, g.2184A>G (human) PMID:20185929|REF_RGD_ID:7242570 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:784 chronic kidney disease susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:polymorphism:promoter:g.-429T>C (human) PMID:20353610|REF_RGD_ID:7244142 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:824 periodontitis ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:periodontium (rat) PMID:22924807|REF_RGD_ID:7245487 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:824 periodontitis ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:22795565|REF_RGD_ID:6784499 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:8398 osteoarthritis ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16948116 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:8398 osteoarthritis treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:23894457|REF_RGD_ID:8695985 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:8515 Cor pulmonale ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:21450080|REF_RGD_ID:6767563 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:874 bacterial pneumonia severity ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:21629785|REF_RGD_ID:6767559 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:8881 rosacea ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:21347371|REF_RGD_ID:6767564 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:8893 psoriasis ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:SNP: :2184A>G (human) PMID:12029499|REF_RGD_ID:8695975 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:8893 psoriasis no_association ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.G82S, 1704G>T, 2245A>G (human) PMID:12029499|REF_RGD_ID:8695975 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:retina inner nuclear layer, retinal ganglion cell (rat) PMID:23587252|REF_RGD_ID:7244248 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :2245G>A (human) PMID:22116960|REF_RGD_ID:8695967 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-374T>A (human) PMID:16969646|REF_RGD_ID:8695958 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-429T>C (human) PMID:11375354|REF_RGD_ID:8695966 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum PMID:23091285|REF_RGD_ID:7244174 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy no_association ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-374T>A, - 429T>C (human) PMID:14704946|REF_RGD_ID:8695965 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy no_association ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphisms: :p.G82S, 1704G>T, 2184A>G (human) PMID:22427038|REF_RGD_ID:8695983 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy no_association ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphisms:promoter, cds, intron:g.-443T>C, p.G82S, g.1704G>T (rs1800625, rs2070600, rs184003) (human) PMID:22475522|REF_RGD_ID:7244176 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy severity ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:SNP:promoter:-374T>A (human) PMID:16969646|REF_RGD_ID:8695958 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:missense mutation, snp, haplotype:cds, intron:p.G82S, g.1704G>T (human) PMID:19542745|REF_RGD_ID:7244175 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:23146804|REF_RGD_ID:7244369 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy treatment ISO RGD:737313 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22171162|REF_RGD_ID:8695979 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (rat) PMID:20195207|REF_RGD_ID:2325645 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9000040 Hypertrophy ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19553346 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9000099 Experimental Colitis treatment ISO RGD:69258 D RGD:9068941 20220623 RGD PMID:29572553|REF_RGD_ID:152995414 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9000310 Lung Injury ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Hyperoxia; mRNA, protein:increased expression:lung (rat) PMID:22093994|REF_RGD_ID:7245945 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:69258 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:24291745|REF_RGD_ID:8696000 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9000528 Coronary Disease ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Heart Failure; protein:increased expression:plasma (human) PMID:20685687|REF_RGD_ID:7244134 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9000528 Coronary Disease susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:23396398|REF_RGD_ID:7243186 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9000784 Fibrosis ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:12874465|REF_RGD_ID:1625346 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9000815 Aortic Calcification ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (rat) PMID:23497312|REF_RGD_ID:7244260 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9000998 Brain Injuries ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:brain (rat) PMID:22491548|REF_RGD_ID:7245557 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9000998 Brain Injuries ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:22915134|PMID:24859607|REF_RGD_ID:7245513|REF_RGD_ID:8696001 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25014009 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9001542 Albuminuria ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; protein:increased expression:serum (human) PMID:21607631|REF_RGD_ID:7243944 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9001542 Albuminuria ISO RGD:737313 D RGD:9068941 20200609 RGD associated with Diabetic Nephropathies PMID:20627935|REF_RGD_ID:7244135 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9001542 Albuminuria treatment ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21796806|REF_RGD_ID:7244184 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9001686 Acute Coronary Syndrome ISO RGD:737312 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21663912|REF_RGD_ID:5508825 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9002153 Chronic Allograft Dysfunction treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:22217518|PMID:23769041|REF_RGD_ID:7245568|REF_RGD_ID:8695995 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9002159 Liver Reperfusion Injury ISO RGD:69258 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:21431875|REF_RGD_ID:10402078 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney cortex, glomerulus PMID:19142024|REF_RGD_ID:2325651 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphism: :1704G>T (human) PMID:14747204|REF_RGD_ID:8695982 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum PMID:23091285|REF_RGD_ID:7244174 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;DNA:polymorphisms, haplotype:cds, intron:p.G82S, g.2184A>G (rs2070600, rs3134940) (human) PMID:21533139|REF_RGD_ID:7244187 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21856399|REF_RGD_ID:7243852 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:737313 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:12651605|REF_RGD_ID:7243248 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9002211 Hyperalgesia ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25014009 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9002211 Hyperalgesia treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:24077211|PMID:25014009|REF_RGD_ID:7364865|REF_RGD_ID:8695980 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9002311 Experimental Autoimmune Myocarditis ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:24599045|REF_RGD_ID:8696002 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetic Nephropathies PMID:19759273|REF_RGD_ID:7244162 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9002514 Neointima treatment ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:24132651|REF_RGD_ID:8695998 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9003139 Cardiac Fibrosis ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:cardiac atrium (rat) PMID:21802905|REF_RGD_ID:7245957 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24630381|REF_RGD_ID:8696003 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9004464 Skin Neoplasms ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:18208974|REF_RGD_ID:8695988 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9004484 Sepsis treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:19623040|REF_RGD_ID:10402067 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9004610 Acute Lung Injury ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Hyperoxia; protein:decreased expression:bronchoalveolar lavage fluid (rat) PMID:23576805|REF_RGD_ID:7244254 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; protein:decreased expression:plasma (human) PMID:21470837|REF_RGD_ID:7243956 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9005372 Inflammation ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic; protein:decreased expression:plasma (human) PMID:21906738|REF_RGD_ID:6767557 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9005372 Inflammation ISO RGD:737312 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:22178603|PMID:33075463 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:lacrimal gland PMID:16283249|REF_RGD_ID:1625335 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737313 D RGD:9068941 20200609 RGD mRNA:increased expression:renal cortex (mouse) PMID:20801062|REF_RGD_ID:7243964 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:22476978|REF_RGD_ID:7245558 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:21458563|REF_RGD_ID:7244188 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9005873 Tongue Neoplasms treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:17374970|REF_RGD_ID:1625338 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9005968 Neuralgia ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25014009 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9006182 Carotid Artery Injuries ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:21680901|REF_RGD_ID:7245963 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9006285 Epidermal Hyperplasia ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:18208974|REF_RGD_ID:8695988 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9006332 Vascular Calcification ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; protein:decreased expression:serum (human) PMID:21643645|REF_RGD_ID:7243940 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9006332 Vascular Calcification ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:21099228|REF_RGD_ID:7243959 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9006332 Vascular Calcification disease_progression ISO RGD:737313 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (mouse) PMID:22305260|REF_RGD_ID:7245562 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:heart (rat) PMID:23251674|REF_RGD_ID:7244283 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; PMID:23251674|REF_RGD_ID:7244283 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9007096 Stroke susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-374T>A (human) PMID:16728681|REF_RGD_ID:1625333 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9007096 Stroke treatment ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21683770|REF_RGD_ID:7245961 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9007102 Myocardial Ischemia ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-374T>A (human) PMID:15896660|REF_RGD_ID:8695969 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9007480 Hyperoxia ISO RGD:69258 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:17343756|REF_RGD_ID:1625339 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9007480 Hyperoxia treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:22883037|REF_RGD_ID:7245514 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:heart (rat) PMID:16505177|REF_RGD_ID:1625342 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9008212 Diabetic Foot ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:decreased expression:blood PMID:21941211|REF_RGD_ID:6767555 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9008939 Breast Neoplasms ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:18058469|REF_RGD_ID:8695964 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9008939 Breast Neoplasms ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :rs184003 (human) PMID:24619131|REF_RGD_ID:8695984 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9008939 Breast Neoplasms no_association ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:SNPs, insertion/deletion:promoter, :-374T>A, -429T/C (human) PMID:22497255|REF_RGD_ID:8695989 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9065 leishmaniasis ISO RGD:737313 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:25014011|REF_RGD_ID:8695986 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, intron:g.-429T>C rs1800625, g.-374T>A rs1800624, g.2184A>G rs3134940 (human) PMID:22513366|REF_RGD_ID:6767309 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9351 diabetes mellitus susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:23396398|REF_RGD_ID:7243186 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:19735169|REF_RGD_ID:7244245 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:jejunum, intestinal villi (rat) PMID:23403079|REF_RGD_ID:7244262 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:SNP: :2245A>G (human) PMID:11884895|REF_RGD_ID:8695991 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:SNP: :557G>A (rs2070600, p.G82S) (human) PMID:21067572|REF_RGD_ID:8548676 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:SNP: :1704G>T, 2184A>G (human) PMID:11884895|REF_RGD_ID:8695991 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-374T>A, -429T/C (human) PMID:22154374|REF_RGD_ID:8695962 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphisms, deletion:promoter, :-374T>A, -429T>C (human) PMID:15896660|REF_RGD_ID:8695969 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:23630304|REF_RGD_ID:7243184 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9540 vascular skin disease no_association ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphisms, insertion, deletion:multiple (human) PMID:11457670|REF_RGD_ID:8695968 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9540 vascular skin disease susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:mutation, SNPs:exon, intron:pG82S, 1704G>T, 2184A>G (human) PMID:11457670|REF_RGD_ID:8695968 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9675 pulmonary emphysema ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30659203 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:737312 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor PMID:16364297|REF_RGD_ID:8695978 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9743 diabetic neuropathy treatment ISO RGD:737313 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22171162|REF_RGD_ID:8695979 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :557G>A (p.G82S) (human) PMID:10553500|REF_RGD_ID:8695961 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-374T>A (human) PMID:16969646|REF_RGD_ID:8695958 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:737312 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:21870072|REF_RGD_ID:7244183 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:18420491|REF_RGD_ID:2325657 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:737313 D RGD:9068941 20200609 RGD protein:increased expression:renal cortex (mouse) PMID:21738623|REF_RGD_ID:7243937 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9970 obesity ISO RGD:737312 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:22761461|REF_RGD_ID:7243250 11732391 AGER advanced glycosylation end-product specific receptor gene DOID:9970 obesity ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:23046363|REF_RGD_ID:7243247 11732391 Ager advanced glycosylation end product-specific receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:737313 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; protein:increased expression:renal cortex (mouse) PMID:12651605|REF_RGD_ID:7243248 11732421 CLIC2 chloride intracellular channel 2 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1315278 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11732421 CLIC2 chloride intracellular channel 2 gene DOID:0050476 Barth syndrome ISO RGD:1315278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11732421 CLIC2 chloride intracellular channel 2 gene DOID:0050800 creatine transporter deficiency ISO RGD:1315278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11732421 CLIC2 chloride intracellular channel 2 gene DOID:0060828 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome ISO RGD:1315278 D RGD:7240710 20180130 OMIM 11732421 CLIC2 chloride intracellular channel 2 gene DOID:0060828 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome ISO RGD:1315278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome PMID:21630357|PMID:22814392|PMID:25741868 11732421 CLIC2 chloride intracellular channel 2 gene DOID:0111781 Waisman syndrome ISO RGD:1315278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset parkinsonism-intellectual disability syndrome PMID:25434005 11732421 CLIC2 chloride intracellular channel 2 gene DOID:0112003 immunodeficiency 33 ISO RGD:1315278 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11732421 CLIC2 chloride intracellular channel 2 gene DOID:10588 adrenoleukodystrophy ISO RGD:1315278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11732421 CLIC2 chloride intracellular channel 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1315278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11732421 CLIC2 chloride intracellular channel 2 gene DOID:12849 autistic disorder ISO RGD:1315278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11732421 CLIC2 chloride intracellular channel 2 gene DOID:13628 favism ISO RGD:1315278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11732421 CLIC2 chloride intracellular channel 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1315278 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11732421 CLIC2 chloride intracellular channel 2 gene DOID:607 paraplegia ISO RGD:1315278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11732421 CLIC2 chloride intracellular channel 2 gene DOID:630 genetic disease ISO RGD:1315278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11732421 CLIC2 chloride intracellular channel 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11732421 CLIC2 chloride intracellular channel 2 gene DOID:9002720 Splenomegaly ISO RGD:1315278 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11732431 APRT adenine phosphoribosyltransferase gene DOID:0060350 adenine phosphoribosyltransferase deficiency ISO RGD:1317133 D RGD:7240710 20180130 OMIM 11732431 APRT adenine phosphoribosyltransferase gene DOID:0060350 adenine phosphoribosyltransferase deficiency ISO RGD:1317133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency PMID:10393170|PMID:11243733|PMID:1353080|PMID:15571218|PMID:1673292|PMID:17126311|PMID:17576681|PMID:1781410|PMID:19435978|PMID:1985452|PMID:20150536|PMID:21304254|PMID:2135300|PMID:21635362|PMID:22212387|PMID:2227951|PMID:22988602|PMID:23430916|PMID:24459232|PMID:24940675|PMID:24986359|PMID:2502918|PMID:25741868|PMID:25983915|PMID:25984046|PMID:26724837|PMID:27994857|PMID:28492532|PMID:28566603|PMID:28717278|PMID:30106368|PMID:30355577|PMID:30389108|PMID:30890413|PMID:30993240|PMID:31201003|PMID:31440706|PMID:3343350|PMID:3554238|PMID:3680503|PMID:7685481|PMID:7758207|PMID:7912608|PMID:7915931|PMID:8882882|PMID:9298830|PMID:9521589|PMID:9536098 11732431 APRT adenine phosphoribosyltransferase gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1317133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 11732431 APRT adenine phosphoribosyltransferase gene DOID:0080653 urolithiasis ISO RGD:1317133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3876264|PMID:7766 11732431 APRT adenine phosphoribosyltransferase gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1317133 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11732431 APRT adenine phosphoribosyltransferase gene DOID:0111391 mucopolysaccharidosis IVA ISO RGD:1317133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A PMID:10479485|PMID:25545067|PMID:25741868|PMID:28492532|PMID:34387910 11732431 APRT adenine phosphoribosyltransferase gene DOID:12804 mucopolysaccharidosis IV ISO RGD:1317133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Morquio syndrome PMID:25741868|PMID:28492532 11732431 APRT adenine phosphoribosyltransferase gene DOID:14780 KBG syndrome ISO RGD:1317133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31690835 11732431 APRT adenine phosphoribosyltransferase gene DOID:4450 renal cell carcinoma ISO RGD:1317133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 11732431 APRT adenine phosphoribosyltransferase gene DOID:630 genetic disease ISO RGD:1317133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732431 APRT adenine phosphoribosyltransferase gene DOID:684 hepatocellular carcinoma ISO RGD:1307758 D RGD:9068941 20200609 RGD protein:increased activity:hepatoma (rat) PMID:6327016|REF_RGD_ID:5135035 11732431 APRT adenine phosphoribosyltransferase gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1317133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 11732431 APRT adenine phosphoribosyltransferase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1307758 D RGD:9068941 20200609 RGD protein:decreased activity:mammary gland (rat) PMID:2451510|REF_RGD_ID:1599204 11732431 APRT adenine phosphoribosyltransferase gene DOID:9008939 Breast Neoplasms ISO RGD:1317133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 11732448 LOC100991392 serine protease 2 gene DOID:4947 cholangiocarcinoma ISO RGD:1347326 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:8621252|REF_RGD_ID:2324908 11732448 LOC100991392 serine protease 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1347326 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:18428024|REF_RGD_ID:2324899 11732448 LOC100991392 serine protease 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347326 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:8621252|REF_RGD_ID:2324908 11732448 LOC100991392 serine protease 2 gene DOID:9006190 Chronic Pancreatitis ISO RGD:1347326 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16699518|PMID:18206817 11732448 LOC100991392 serine protease 2 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1347326 D RGD:7240710 20180130 OMIM 11732448 LOC100991392 serine protease 2 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1347326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatitis, chronic, protection against PMID:16699518 11732464 KCTD8 potassium channel tetramerization domain containing 8 gene DOID:630 genetic disease ISO RGD:1323784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732478 OSBP2 oxysterol binding protein 2 gene DOID:4947 cholangiocarcinoma ISO RGD:1321446 D RGD:9068941 20210129 RGD mRNA:increased expression:blood PMID:21763455|REF_RGD_ID:41404644 11732478 OSBP2 oxysterol binding protein 2 gene DOID:630 genetic disease ISO RGD:1321446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732498 C6H6orf58 chromosome 6 C6orf58 homolog gene DOID:630 genetic disease ISO RGD:1350193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732508 NCSTN nicastrin gene DOID:0060178 familial hemiplegic migraine ISO RGD:1351739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 11732508 NCSTN nicastrin gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:1351739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) PMID:28492532 11732508 NCSTN nicastrin gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1351739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11732508 NCSTN nicastrin gene DOID:0081292 traumatic brain injury ISO RGD:1551174 D RGD:9068941 20200609 RGD PMID:18240300|REF_RGD_ID:13801189 11732508 NCSTN nicastrin gene DOID:10652 Alzheimer's disease ISO RGD:1351739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17192785 11732508 NCSTN nicastrin gene DOID:10652 Alzheimer's disease ISO RGD:1351739 D RGD:9068941 20200609 RGD PMID:23595812|REF_RGD_ID:13801187 11732508 NCSTN nicastrin gene DOID:10652 Alzheimer's disease ISO RGD:1351739 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-922G>T (rs10752637) (human) PMID:19840113|REF_RGD_ID:13801048 11732508 NCSTN nicastrin gene DOID:10652 Alzheimer's disease ISO RGD:1351739 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-796T>G, -1216C>A (human) PMID:19394408|REF_RGD_ID:13801050 11732508 NCSTN nicastrin gene DOID:10652 Alzheimer's disease ISO RGD:1351739 D RGD:9068941 20200609 RGD protein:increased modification:brain PMID:22404891|REF_RGD_ID:13801051 11732508 NCSTN nicastrin gene DOID:10652 Alzheimer's disease no_association ISO RGD:1351739 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-436C>T (human) PMID:19394408|REF_RGD_ID:13801050 11732508 NCSTN nicastrin gene DOID:10652 Alzheimer's disease no_association ISO RGD:1351739 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-796T>G, -1216C>A (human) PMID:15157994|REF_RGD_ID:13801049 11732508 NCSTN nicastrin gene DOID:10652 Alzheimer's disease no_association ISO RGD:1351739 D RGD:9068941 20200609 RGD DNA:missense mutation, SNPs:exon, intron, 3' utr:multiple PMID:14642438|REF_RGD_ID:13801188 11732508 NCSTN nicastrin gene DOID:10652 Alzheimer's disease no_association ISO RGD:1351739 D RGD:9068941 20200609 RGD DNA:missense mutation: :417N>Y (human) PMID:11992262|REF_RGD_ID:13801052 11732508 NCSTN nicastrin gene DOID:10652 Alzheimer's disease onset ISO RGD:1351739 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:introns:multiple PMID:11992262|REF_RGD_ID:13801052 11732508 NCSTN nicastrin gene DOID:11054 urinary bladder cancer ISO RGD:1551174 D RGD:9068941 20220825 MouseDO OMIM:109800 11732508 NCSTN nicastrin gene DOID:1540 parathyroid carcinoma ISO RGD:1351739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11732508 NCSTN nicastrin gene DOID:5419 schizophrenia ISO RGD:1351739 D RGD:9068941 20200609 RGD DNA:SNP:5' utr:rs1802778 (human) PMID:27008863|REF_RGD_ID:11536124 11732508 NCSTN nicastrin gene DOID:5419 schizophrenia ISO RGD:1351739 D RGD:9068941 20200609 RGD DNA:missense mutation: :417N>Y (human) PMID:21364883|REF_RGD_ID:13801053 11732508 NCSTN nicastrin gene DOID:5419 schizophrenia ISO RGD:1551174 D RGD:9068941 20200609 RGD PMID:27008863|REF_RGD_ID:11536124 11732508 NCSTN nicastrin gene DOID:5419 schizophrenia ISO RGD:1551174 D RGD:9068941 20220825 MouseDO OMIM:181500 11732508 NCSTN nicastrin gene DOID:5419 schizophrenia no_association ISO RGD:1351739 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:21364883|PMID:27008863|REF_RGD_ID:11536124|REF_RGD_ID:13801053 11732508 NCSTN nicastrin gene DOID:630 genetic disease ISO RGD:1351739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11732508 NCSTN nicastrin gene DOID:8552 chronic myeloid leukemia ISO RGD:1551174 D RGD:9068941 20220825 MouseDO OMIM:608232 11732508 NCSTN nicastrin gene DOID:9003136 Familial Acne Inversa 1 ISO RGD:1351739 D RGD:7240710 20210721 OMIM 11732508 NCSTN nicastrin gene DOID:9003136 Familial Acne Inversa 1 ISO RGD:1351739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acne inversa, familial, 1 PMID:20929727|PMID:21412258|PMID:22358060|PMID:25693063|PMID:25741868|PMID:28492532|PMID:32926179 11732508 NCSTN nicastrin gene DOID:9008895 Familial Hidradenitis Suppurativa ISO RGD:1351739 D RGD:9068941 20210723 CTD CTD Direct Evidence: marker/mechanism PMID:20929727 11732508 NCSTN nicastrin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11732532 AHSG alpha 2-HS glycoprotein gene DOID:0060575 3MC syndrome 1 ISO RGD:736027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 11732532 AHSG alpha 2-HS glycoprotein gene DOID:0080628 alopecia-mental retardation syndrome 1 ISO RGD:736027 D RGD:7240710 20190315 OMIM 11732532 AHSG alpha 2-HS glycoprotein gene DOID:0080628 alopecia-mental retardation syndrome 1 ISO RGD:736027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alopecia mental retardation syndrome 1 | ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 1 PMID:15592877|PMID:15806395|PMID:25741868|PMID:28054173|PMID:31288248|PMID:9003486 11732532 AHSG alpha 2-HS glycoprotein gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:736027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis PMID:24886237 11732532 AHSG alpha 2-HS glycoprotein gene DOID:11714 gestational diabetes ISO RGD:736027 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12153747|REF_RGD_ID:2313814 11732532 AHSG alpha 2-HS glycoprotein gene DOID:182 calcinosis ISO RGD:736027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16177000 11732532 AHSG alpha 2-HS glycoprotein gene DOID:3021 acute kidney failure ISO RGD:736027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 11732532 AHSG alpha 2-HS glycoprotein gene DOID:3393 coronary artery disease susceptibility ISO RGD:736027 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNPs PMID:17062776|REF_RGD_ID:1625792 11732532 AHSG alpha 2-HS glycoprotein gene DOID:5844 myocardial infarction ISO RGD:736027 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19029462|REF_RGD_ID:2313810 11732532 AHSG alpha 2-HS glycoprotein gene DOID:585 nephrolithiasis ISO RGD:736027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Calcium oxalate urolithiasis PMID:24886237 11732532 AHSG alpha 2-HS glycoprotein gene DOID:630 genetic disease ISO RGD:736027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732532 AHSG alpha 2-HS glycoprotein gene DOID:9002165 Diabetic Nephropathies ISO RGD:736027 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum PMID:15698447|REF_RGD_ID:2313813 11732532 AHSG alpha 2-HS glycoprotein gene DOID:9006599 Hypertriglyceridemia ISO RGD:736027 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19228823|REF_RGD_ID:2313809 11732532 AHSG alpha 2-HS glycoprotein gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 11732532 AHSG alpha 2-HS glycoprotein gene DOID:9007096 Stroke ISO RGD:736027 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19029462|REF_RGD_ID:2313810 11732532 AHSG alpha 2-HS glycoprotein gene DOID:9007692 Insulin Resistance ISO RGD:736027 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16567827|REF_RGD_ID:1625794 11732532 AHSG alpha 2-HS glycoprotein gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:10128 D RGD:9068941 20200609 RGD PMID:17011519|REF_RGD_ID:1625793 11732532 AHSG alpha 2-HS glycoprotein gene DOID:9352 type 2 diabetes mellitus ISO RGD:736027 D RGD:9068941 20200609 RGD PMID:18633113|REF_RGD_ID:2313811 11732532 AHSG alpha 2-HS glycoprotein gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:736027 D RGD:9068941 20200609 RGD DNA:polymorphism: :-469T>G (rs2077119) (human) PMID:18316360|REF_RGD_ID:2313812 11732532 AHSG alpha 2-HS glycoprotein gene DOID:9970 obesity ISO RGD:736027 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19228823|REF_RGD_ID:2313809 11732532 AHSG alpha 2-HS glycoprotein gene DOID:9970 obesity susceptibility ISO RGD:10128 D RGD:9068941 20200609 RGD PMID:17011519|REF_RGD_ID:1625793 11732554 NXF1 nuclear RNA export factor 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:737301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11732554 NXF1 nuclear RNA export factor 1 gene DOID:1059 intellectual disability ISO RGD:737301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11732554 NXF1 nuclear RNA export factor 1 gene DOID:630 genetic disease ISO RGD:737301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732584 ZNF639 zinc finger protein 639 gene DOID:0111546 Currarino syndrome ISO RGD:1353900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11732584 ZNF639 zinc finger protein 639 gene DOID:630 genetic disease ISO RGD:1353900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732584 ZNF639 zinc finger protein 639 gene DOID:6457 Cowden syndrome ISO RGD:1353900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cowden syndrome PMID:28492532 11732658 GAL galanin and GMAP prepropeptide gene DOID:0060754 familial temporal lobe epilepsy 8 ISO RGD:737194 D RGD:7240710 20180130 OMIM 11732658 GAL galanin and GMAP prepropeptide gene DOID:0060754 familial temporal lobe epilepsy 8 ISO RGD:737194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 PMID:17576681|PMID:25691535|PMID:25741868|PMID:28492532|PMID:9536098 11732658 GAL galanin and GMAP prepropeptide gene DOID:1059 intellectual disability ISO RGD:737194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11732658 GAL galanin and GMAP prepropeptide gene DOID:10763 hypertension ISO RGD:61954 D RGD:9068941 20200609 RGD mRNA:decreased expression:paraventricular hypothalamic nucleus, solitary tract nucleus PMID:15275958|REF_RGD_ID:1624333 11732658 GAL galanin and GMAP prepropeptide gene DOID:10763 hypertension ISO RGD:737194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10818254 11732658 GAL galanin and GMAP prepropeptide gene DOID:1188 mononeuropathy ISO RGD:61954 D RGD:9068941 20200609 RGD PMID:17383023|REF_RGD_ID:1624339 11732658 GAL galanin and GMAP prepropeptide gene DOID:1470 major depressive disorder ISO RGD:737194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27940914 11732658 GAL galanin and GMAP prepropeptide gene DOID:1826 epilepsy ISO RGD:737194 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11732658 GAL galanin and GMAP prepropeptide gene DOID:2316 brain ischemia ISO RGD:61954 D RGD:9068941 20200609 RGD PMID:16458372|REF_RGD_ID:1624341 11732658 GAL galanin and GMAP prepropeptide gene DOID:630 genetic disease ISO RGD:737194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11732658 GAL galanin and GMAP prepropeptide gene DOID:9002211 Hyperalgesia ISO RGD:737194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12787826 11732658 GAL galanin and GMAP prepropeptide gene DOID:9002554 Tachycardia ISO RGD:737194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10818254 11732658 GAL galanin and GMAP prepropeptide gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:737194 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11732658 GAL galanin and GMAP prepropeptide gene DOID:9005372 Inflammation ISO RGD:737194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17999197 11732658 GAL galanin and GMAP prepropeptide gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61954 D RGD:9068941 20200609 RGD protein:decreased expression:pancreatic islet PMID:11489087|REF_RGD_ID:2313740 11732658 GAL galanin and GMAP prepropeptide gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:62247 D RGD:9068941 20200609 RGD protein:decreased expression:pancreatic islet PMID:7505518|REF_RGD_ID:2313742 11732658 GAL galanin and GMAP prepropeptide gene DOID:9005968 Neuralgia ISO RGD:737194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18400411 11732658 GAL galanin and GMAP prepropeptide gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:737194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11732658 GAL galanin and GMAP prepropeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:737194 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:15735230|REF_RGD_ID:2313738 11732658 GAL galanin and GMAP prepropeptide gene DOID:9744 type 1 diabetes mellitus ISO RGD:61954 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:celiac ganglion PMID:16487586|REF_RGD_ID:1624331 11732658 GAL galanin and GMAP prepropeptide gene DOID:9744 type 1 diabetes mellitus ISO RGD:737194 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16060906|REF_RGD_ID:2313736 11732658 GAL galanin and GMAP prepropeptide gene DOID:9970 obesity ISO RGD:737194 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:11220530|REF_RGD_ID:1624334 11732658 GAL galanin and GMAP prepropeptide gene DOID:9970 obesity no_association ISO RGD:737194 D RGD:9068941 20200609 RGD PMID:15930442|REF_RGD_ID:1625748 11732673 MRPS10 mitochondrial ribosomal protein S10 gene DOID:0050444 infantile Refsum disease ISO RGD:1323017 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11732673 MRPS10 mitochondrial ribosomal protein S10 gene DOID:630 genetic disease ISO RGD:1323017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732673 MRPS10 mitochondrial ribosomal protein S10 gene DOID:905 Zellweger syndrome ISO RGD:1323017 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11732688 VIRMA vir like m6A methyltransferase associated gene DOID:630 genetic disease ISO RGD:1603673 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732716 GSG1 germ cell associated 1 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1315222 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 11732716 GSG1 germ cell associated 1 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1315222 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 11732716 GSG1 germ cell associated 1 gene DOID:630 genetic disease ISO RGD:1315222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732739 KCNN1 potassium calcium-activated channel subfamily N member 1 gene DOID:630 genetic disease ISO RGD:731634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732739 KCNN1 potassium calcium-activated channel subfamily N member 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:731634 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11732766 TMEM185B transmembrane protein 185B gene DOID:630 genetic disease ISO RGD:1345380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732771 CHMP2B charged multivesicular body protein 2B gene DOID:0111227 chromosome 3-linked frontotemporal dementia ISO RGD:1603668 D RGD:7240710 20180130 OMIM 11732771 CHMP2B charged multivesicular body protein 2B gene DOID:0111227 chromosome 3-linked frontotemporal dementia ISO RGD:1603668 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 PMID:16041373|PMID:16431024|PMID:16807408|PMID:16941655|PMID:16954699|PMID:17576681|PMID:17956895|PMID:20301378|PMID:20352044|PMID:20592581|PMID:20625756|PMID:21222599|PMID:22521643|PMID:22527221|PMID:23155438|PMID:25558820|PMID:25741868|PMID:26467025|PMID:26777436|PMID:26836416|PMID:28166811|PMID:28430856|PMID:28492532|PMID:29411640|PMID:29431110|PMID:29486463|PMID:29525180|PMID:30054184|PMID:30766798|PMID:32638105|PMID:9536098 11732771 CHMP2B charged multivesicular body protein 2B gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1603668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16807408 11732771 CHMP2B charged multivesicular body protein 2B gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1603668 D RGD:9068941 20200609 RGD DNA:mutations:cds:Q206H, I29V (human) PMID:16807408|REF_RGD_ID:5688711 11732771 CHMP2B charged multivesicular body protein 2B gene DOID:630 genetic disease ISO RGD:1603668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732771 CHMP2B charged multivesicular body protein 2B gene DOID:8725 vascular dementia ISO RGD:1603668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 11732771 CHMP2B charged multivesicular body protein 2B gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1603668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17956895 11732771 CHMP2B charged multivesicular body protein 2B gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1603668 D RGD:9068941 20200609 RGD PMID:22366797|REF_RGD_ID:5688397 11732771 CHMP2B charged multivesicular body protein 2B gene DOID:9002031 Frontotemporal Lobar Degeneration no_association ISO RGD:1603668 D RGD:9068941 20200609 RGD PMID:20412296|REF_RGD_ID:5688712 11732771 CHMP2B charged multivesicular body protein 2B gene DOID:9005344 Combined Pituitary Hormone Deficiency 1 ISO RGD:1603668 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 PMID:25741868|PMID:26467025 11732771 CHMP2B charged multivesicular body protein 2B gene DOID:9008340 Combined Pituitary Hormone Deficiency, 2 ISO RGD:1603668 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive PMID:25741868|PMID:26467025|PMID:28492532 11732771 CHMP2B charged multivesicular body protein 2B gene DOID:9255 frontotemporal dementia ISO RGD:1603668 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:25741868|PMID:26467025|PMID:28492532 11732771 CHMP2B charged multivesicular body protein 2B gene DOID:9255 frontotemporal dementia no_association ISO RGD:1603668 D RGD:9068941 20200609 RGD PMID:16979267|REF_RGD_ID:5688721 11732788 GRHL2 grainyhead like transcription factor 2 gene DOID:0080669 posterior polymorphous corneal dystrophy 4 ISO RGD:1342517 D RGD:7240710 20190315 OMIM 11732788 GRHL2 grainyhead like transcription factor 2 gene DOID:0080669 posterior polymorphous corneal dystrophy 4 ISO RGD:1342517 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, posterior polymorphous, 4 PMID:24033266|PMID:25741868|PMID:28492532|PMID:29499165 11732788 GRHL2 grainyhead like transcription factor 2 gene DOID:0081152 common variable immunodeficiency 10 ISO RGD:1342517 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 10 PMID:24033266|PMID:25741868 11732788 GRHL2 grainyhead like transcription factor 2 gene DOID:0110557 autosomal dominant nonsyndromic deafness 28 ISO RGD:1342517 D RGD:7240710 20180130 OMIM 11732788 GRHL2 grainyhead like transcription factor 2 gene DOID:0110557 autosomal dominant nonsyndromic deafness 28 ISO RGD:1342517 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 28 PMID:12393799|PMID:23813623|PMID:24033266|PMID:25741868|PMID:28492532 11732788 GRHL2 grainyhead like transcription factor 2 gene DOID:0111590 Cohen syndrome ISO RGD:1342517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 11732788 GRHL2 grainyhead like transcription factor 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1342517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27876815 11732788 GRHL2 grainyhead like transcription factor 2 gene DOID:2566 corneal dystrophy ISO RGD:1342517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal dystrophy PMID:29499165 11732788 GRHL2 grainyhead like transcription factor 2 gene DOID:630 genetic disease ISO RGD:1342517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 11732788 GRHL2 grainyhead like transcription factor 2 gene DOID:9004538 Hearing Loss ISO RGD:1342517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 11732788 GRHL2 grainyhead like transcription factor 2 gene DOID:9008992 ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME ISO RGD:1342517 D RGD:7240710 20180130 OMIM 11732788 GRHL2 grainyhead like transcription factor 2 gene DOID:9008992 ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME ISO RGD:1342517 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia/short stature syndrome PMID:24033266|PMID:25152456|PMID:25741868|PMID:28492532 11732822 EPM2AIP1 EPM2A interacting protein 1 gene DOID:3883 Lynch syndrome ISO RGD:1322182 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:14635101|PMID:15713769|PMID:15942939|PMID:15949572|PMID:16143124|PMID:16736289|PMID:16807412|PMID:16941473|PMID:19173287|PMID:19324997|PMID:19459153|PMID:21712435|PMID:23733757|PMID:24362816|PMID:28492532|PMID:29472279|PMID:31491536|PMID:33309985 11732822 EPM2AIP1 EPM2A interacting protein 1 gene DOID:630 genetic disease ISO RGD:1322182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732822 EPM2AIP1 EPM2A interacting protein 1 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1322182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 11732828 OSMR oncostatin M receptor gene DOID:0050639 primary cutaneous amyloidosis ISO RGD:1352311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11732828 OSMR oncostatin M receptor gene DOID:0080600 COVID-19 ISO RGD:1352311 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11732828 OSMR oncostatin M receptor gene DOID:0080930 primary localized cutaneous amyloidosis 1 ISO RGD:1352311 D RGD:7240710 20190327 OMIM 11732828 OSMR oncostatin M receptor gene DOID:0080930 primary localized cutaneous amyloidosis 1 ISO RGD:1352311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidosis, primary localized cutaneous, 1 PMID:18179886|PMID:19690585 11732828 OSMR oncostatin M receptor gene DOID:1790 malignant mesothelioma ISO RGD:1352311 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 11732828 OSMR oncostatin M receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 11732828 OSMR oncostatin M receptor gene DOID:630 genetic disease ISO RGD:1352311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11732828 OSMR oncostatin M receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11732850 GRIN3A glutamate ionotropic receptor NMDA type subunit 3A gene DOID:1059 intellectual disability ISO RGD:733376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11732850 GRIN3A glutamate ionotropic receptor NMDA type subunit 3A gene DOID:1875 impotence ISO RGD:733376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19295509 11732850 GRIN3A glutamate ionotropic receptor NMDA type subunit 3A gene DOID:2661 myoepithelioma ISO RGD:733376 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11732850 GRIN3A glutamate ionotropic receptor NMDA type subunit 3A gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:733376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:18541450|PMID:28492532 11732850 GRIN3A glutamate ionotropic receptor NMDA type subunit 3A gene DOID:630 genetic disease ISO RGD:733376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732850 GRIN3A glutamate ionotropic receptor NMDA type subunit 3A gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:733376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose intolerance PMID:18541450|PMID:28492532 11732863 NOX3 NADPH oxidase 3 gene DOID:630 genetic disease ISO RGD:1351952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732863 NOX3 NADPH oxidase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11732881 BEND3 BEN domain containing 3 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1347685 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 11732881 BEND3 BEN domain containing 3 gene DOID:630 genetic disease ISO RGD:1347685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732896 AK8 adenylate kinase 8 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350831 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11732896 AK8 adenylate kinase 8 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1350831 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:25741868|PMID:28492532 11732896 AK8 adenylate kinase 8 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1350831 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11732896 AK8 adenylate kinase 8 gene DOID:0081097 Rafiq syndrome ISO RGD:1350831 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11732896 AK8 adenylate kinase 8 gene DOID:10908 hydrocephalus ISO RGD:1332480 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 11732896 AK8 adenylate kinase 8 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1350831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11732896 AK8 adenylate kinase 8 gene DOID:3652 Leigh disease ISO RGD:1350831 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11732896 AK8 adenylate kinase 8 gene DOID:630 genetic disease ISO RGD:1350831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732924 HBEGF heparin binding EGF like growth factor gene DOID:0050851 glomerulosclerosis induced ISO RGD:1605733 D RGD:9068941 20200910 RGD PMID:16107576|REF_RGD_ID:1556472 11732924 HBEGF heparin binding EGF like growth factor gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1605733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11732924 HBEGF heparin binding EGF like growth factor gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605733 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11732924 HBEGF heparin binding EGF like growth factor gene DOID:289 endometriosis ISO RGD:1605733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11732924 HBEGF heparin binding EGF like growth factor gene DOID:3021 acute kidney failure ISO RGD:1605733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7635938 11732924 HBEGF heparin binding EGF like growth factor gene DOID:3021 acute kidney failure ISO RGD:2526 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:11340354|REF_RGD_ID:10395241 11732924 HBEGF heparin binding EGF like growth factor gene DOID:630 genetic disease ISO RGD:1605733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732924 HBEGF heparin binding EGF like growth factor gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1605733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11732924 HBEGF heparin binding EGF like growth factor gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:1605733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023256 11732924 HBEGF heparin binding EGF like growth factor gene DOID:783 end stage renal disease ISO RGD:1605733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937979 11732924 HBEGF heparin binding EGF like growth factor gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1605733 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16567187 11732924 HBEGF heparin binding EGF like growth factor gene DOID:8677 perinatal necrotizing enterocolitis treatment ISO RGD:1605733 D RGD:9068941 20200609 RGD PMID:18607263|REF_RGD_ID:10395236 11732924 HBEGF heparin binding EGF like growth factor gene DOID:9000217 Stomach Neoplasms ISO RGD:1605733 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15723263 11732924 HBEGF heparin binding EGF like growth factor gene DOID:9002371 Cardiotoxicity ISO RGD:1605733 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29305325 11732924 HBEGF heparin binding EGF like growth factor gene DOID:9004009 Reperfusion Injury ISO RGD:1605733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7635938 11732924 HBEGF heparin binding EGF like growth factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11732924 HBEGF heparin binding EGF like growth factor gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1605733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9709397 11732924 HBEGF heparin binding EGF like growth factor gene DOID:9006205 Animal Disease Models ISO RGD:1605733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937979 11732924 HBEGF heparin binding EGF like growth factor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605733 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11732934 FAM118B family with sequence similarity 118 member B gene DOID:0110877 holoprosencephaly 11 ISO RGD:1603013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11732934 FAM118B family with sequence similarity 118 member B gene DOID:0111723 Jacobsen Syndrome ISO RGD:1603013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11732934 FAM118B family with sequence similarity 118 member B gene DOID:5419 schizophrenia ISO RGD:1603013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11732934 FAM118B family with sequence similarity 118 member B gene DOID:630 genetic disease ISO RGD:1603013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732934 FAM118B family with sequence similarity 118 member B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11732934 FAM118B family with sequence similarity 118 member B gene DOID:9007661 Dwarfism ISO RGD:1603013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11732988 LOC100979500 olfactory receptor 6K6 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1351378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11732988 LOC100979500 olfactory receptor 6K6 gene DOID:1540 parathyroid carcinoma ISO RGD:1351378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11732988 LOC100979500 olfactory receptor 6K6 gene DOID:630 genetic disease ISO RGD:1351378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11732988 LOC100979500 olfactory receptor 6K6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11732993 OTOF otoferlin gene DOID:0050563 nonsyndromic deafness ISO RGD:1344284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:10903124|PMID:12114484|PMID:12127154|PMID:12525542|PMID:14635104|PMID:16226319|PMID:16371502|PMID:17036997|PMID:18381613|PMID:19250381|PMID:19461658|PMID:20146813|PMID:20224275|PMID:20301429|PMID:21117948|PMID:21557232|PMID:22575033|PMID:22906306|PMID:24033266|PMID:24053799|PMID:24746455|PMID:24814232|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26445815|PMID:26467025|PMID:26969326|PMID:27082237|PMID:27177047|PMID:27621663|PMID:27652356|PMID:27729456|PMID:28492532|PMID:28766844|PMID:29196752|PMID:29484972|PMID:30303587|PMID:30311386|PMID:30368385|PMID:31095577|PMID:31589614|PMID:31827501|PMID:31980526|PMID:32906206|PMID:33256196|PMID:33426078|PMID:34536124|PMID:34652575 11732993 OTOF otoferlin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1344284 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:12525542|PMID:14635104|PMID:19250381|PMID:20301429|PMID:24033266|PMID:25741868|PMID:26632695|PMID:27082237|PMID:28492532|PMID:30303587 11732993 OTOF otoferlin gene DOID:0060744 Pendred syndrome ISO RGD:1344284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:30311386 11732993 OTOF otoferlin gene DOID:0080600 COVID-19 ISO RGD:1344284 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11732993 OTOF otoferlin gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1344284 D RGD:7240710 20180130 OMIM 11732993 OTOF otoferlin gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1344284 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Auditory neuropathy, autosomal recessive, 1 | ClinVar Annotator: match by term: Deafness, autosomal recessive 9 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 PMID:10192385|PMID:10878664|PMID:10903124|PMID:11483641|PMID:12114484|PMID:12127154|PMID:12525542|PMID:14635104|PMID:16097006|PMID:16226319|PMID:16283880|PMID:16371502|PMID:17036997|PMID:17512949|PMID:17576681|PMID:18381613|PMID:18804553|PMID:19250381|PMID:19461658|PMID:19636622|PMID:20146813|PMID:20211493|PMID:20224275|PMID:20230791|PMID:20301429|PMID:20504331|PMID:21117948|PMID:21216247|PMID:21557232|PMID:21935370|PMID:22575033|PMID:22607986|PMID:22906306|PMID:23208854|PMID:23562982|PMID:24033266|PMID:24053799|PMID:24746455|PMID:24814232|PMID:25262649|PMID:25326637|PMID:25525159|PMID:25741868|PMID:25991456|PMID:26186295|PMID:26434960|PMID:26445815|PMID:26467025|PMID:26632695|PMID:26763877|PMID:26818607|PMID:26969326|PMID:27018795|PMID:27068579|PMID:27082237|PMID:27177047|PMID:27621663|PMID:27652356|PMID:27657688|PMID:27729456|PMID:27766948|PMID:27821677|PMID:28492532|PMID:28766844|PMID:29048421|PMID:29362361|PMID:29484972|PMID:29752989|PMID:30096381|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30368385|PMID:31095577|PMID:31589614|PMID:31827501|PMID:31980526|PMID:32747562|PMID:32906206|PMID:33095980|PMID:33256196|PMID:34113375|PMID:34536124|PMID:34599368|PMID:34652575|PMID:8789454|PMID:9536098|PMID:9657592 11732993 OTOF otoferlin gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1344284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Auditory neuropathy, autosomal recessive, 1 | ClinVar Annotator: match by term: Deafness, autosomal recessive 9 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 PMID:10192385|PMID:10878664|PMID:10903124|PMID:11483641|PMID:12114484|PMID:12127154|PMID:12525542|PMID:14635104|PMID:16097006|PMID:16226319|PMID:16283880|PMID:16371502|PMID:17036997|PMID:17512949|PMID:17576681|PMID:18381613|PMID:18804553|PMID:19250381|PMID:19461658|PMID:19636622|PMID:20146813|PMID:20211493|PMID:20224275|PMID:20230791|PMID:20301429|PMID:20504331|PMID:21117948|PMID:21216247|PMID:21557232|PMID:21935370|PMID:22575033|PMID:22607986|PMID:22906306|PMID:23208854|PMID:23562982|PMID:24033266|PMID:24053799|PMID:24746455|PMID:24814232|PMID:25262649|PMID:25326637|PMID:25525159|PMID:25741868|PMID:25991456|PMID:26186295|PMID:26188103|PMID:26434960|PMID:26445815|PMID:26467025|PMID:26632695|PMID:26763877|PMID:26818607|PMID:26969326|PMID:27018795|PMID:27068579|PMID:27082237|PMID:27177047|PMID:27621663|PMID:27652356|PMID:27657688|PMID:27729456|PMID:27766948|PMID:27821677|PMID:28335750|PMID:28492532|PMID:28766844|PMID:29048421|PMID:29196752|PMID:29362361|PMID:29484972|PMID:29752989|PMID:30096381|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30368385|PMID:31095577|PMID:31589614|PMID:31827501|PMID:31980526|PMID:32747562|PMID:32906206|PMID:33095980|PMID:33256196|PMID:34113375|PMID:34536124|PMID:34599368|PMID:34652575|PMID:8789454|PMID:9536098|PMID:9657592 11732993 OTOF otoferlin gene DOID:0110553 autosomal dominant nonsyndromic deafness 23 ISO RGD:1344284 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 23 PMID:19461658|PMID:24033266|PMID:25741868|PMID:30311386|PMID:34599368|PMID:34652575 11732993 OTOF otoferlin gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1344284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11732993 OTOF otoferlin gene DOID:10003 sensorineural hearing loss ISO RGD:1344284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:12525542|PMID:16371502|PMID:18381613|PMID:19250381|PMID:19461658|PMID:19636622|PMID:20146813|PMID:20301429|PMID:21117948|PMID:22575033|PMID:22906306|PMID:24033266|PMID:24746455|PMID:25741868|PMID:26188103|PMID:26445815|PMID:26467025|PMID:27082237|PMID:27729456|PMID:28492532|PMID:29196752|PMID:29484972|PMID:30311386|PMID:31589614|PMID:31980526|PMID:32747562|PMID:32906206|PMID:33256196|PMID:34536124|PMID:34599368|PMID:34652575 11732993 OTOF otoferlin gene DOID:1459 hypothyroidism ISO RGD:620646 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cochlea (rat) PMID:17376979|REF_RGD_ID:9491752 11732993 OTOF otoferlin gene DOID:630 genetic disease ISO RGD:1344284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 11732993 OTOF otoferlin gene DOID:9002687 Arthrogryposis and Ectodermal Dysplasia ISO RGD:1344284 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Trichooculodermovertebral syndrome PMID:35802133|PMID:36633841 11732993 OTOF otoferlin gene DOID:9004538 Hearing Loss ISO RGD:1344284 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:18381613|PMID:20146813|PMID:20301429|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27068579|PMID:28492532|PMID:30311386|PMID:31581539 11732993 OTOF otoferlin gene DOID:9008681 Deafness ISO RGD:1344284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 11733025 TMPRSS11F transmembrane serine protease 11F gene DOID:630 genetic disease ISO RGD:1602625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733025 TMPRSS11F transmembrane serine protease 11F gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1602625 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11733039 INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 gene DOID:0050941 spastic ataxia 2 ISO RGD:1604452 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 11733039 INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:1604452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 11733039 INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1604452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733059 FAM98B family with sequence similarity 98 member B gene DOID:2717 Bloom syndrome ISO RGD:1606116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11733059 FAM98B family with sequence similarity 98 member B gene DOID:630 genetic disease ISO RGD:1606116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733059 FAM98B family with sequence similarity 98 member B gene DOID:9007799 Legius Syndrome ISO RGD:1606116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Legius syndrome PMID:21548021|PMID:22753041|PMID:28492532 11733059 FAM98B family with sequence similarity 98 member B gene DOID:9256 colorectal cancer ISO RGD:1606116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11733069 SELL selectin L gene DOID:0060180 colitis ISO RGD:3655 D RGD:9068941 20200609 RGD PMID:18054560|REF_RGD_ID:5685703 11733069 SELL selectin L gene DOID:0080162 lupus nephritis ISO RGD:737030 D RGD:9068941 20200609 RGD PMID:20512127|REF_RGD_ID:7175284 11733069 SELL selectin L gene DOID:0080600 COVID-19 ISO RGD:1342543 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11733069 SELL selectin L gene DOID:0081267 graft-versus-host disease ISO RGD:1342543 D RGD:9068941 20200609 RGD PMID:21635226|REF_RGD_ID:5685693 11733069 SELL selectin L gene DOID:10652 Alzheimer's disease severity ISO RGD:1342543 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:21484243|REF_RGD_ID:5685677 11733069 SELL selectin L gene DOID:14115 toxic shock syndrome ISO RGD:3655 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19375498|REF_RGD_ID:5685700 11733069 SELL selectin L gene DOID:1540 parathyroid carcinoma ISO RGD:1342543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11733069 SELL selectin L gene DOID:1936 atherosclerosis ISO RGD:737030 D RGD:9068941 20200609 RGD PMID:21760899|REF_RGD_ID:5685675 11733069 SELL selectin L gene DOID:2773 contact dermatitis ISO RGD:737030 D RGD:9068941 20200609 RGD PMID:20182448|REF_RGD_ID:5685684 11733069 SELL selectin L gene DOID:2841 asthma ISO RGD:737030 D RGD:9068941 20200609 RGD PMID:21437035|PMID:21515793|REF_RGD_ID:5685685|REF_RGD_ID:5685696 11733069 SELL selectin L gene DOID:289 endometriosis ISO RGD:3655 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:17845203|REF_RGD_ID:2303708 11733069 SELL selectin L gene DOID:2986 IgA glomerulonephritis ISO RGD:1342543 D RGD:9068941 20200609 RGD PMID:11828340|PMID:17452405|REF_RGD_ID:1625253|REF_RGD_ID:7175290 11733069 SELL selectin L gene DOID:341 peripheral vascular disease ISO RGD:3655 D RGD:9068941 20200609 RGD PMID:17924279|REF_RGD_ID:2316357 11733069 SELL selectin L gene DOID:4989 pancreatitis ISO RGD:3655 D RGD:9068941 20200609 RGD PMID:16214426|REF_RGD_ID:5685705 11733069 SELL selectin L gene DOID:5844 myocardial infarction ISO RGD:1342543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10070497 11733069 SELL selectin L gene DOID:630 genetic disease ISO RGD:1342543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733069 SELL selectin L gene DOID:7693 abdominal aortic aneurysm ISO RGD:3655 D RGD:9068941 20200609 RGD PMID:15998669|REF_RGD_ID:5685707 11733069 SELL selectin L gene DOID:7693 abdominal aortic aneurysm ISO RGD:737030 D RGD:9068941 20200609 RGD PMID:15998669|REF_RGD_ID:5685707 11733069 SELL selectin L gene DOID:783 end stage renal disease no_association ISO RGD:1342543 D RGD:9068941 20200609 RGD PMID:22119815|REF_RGD_ID:7175303 11733069 SELL selectin L gene DOID:8577 ulcerative colitis ISO RGD:1342543 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.F206L (human) PMID:19212205|REF_RGD_ID:13464267 11733069 SELL selectin L gene DOID:8778 Crohn's disease ISO RGD:1342543 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.F206L (human) PMID:19212205|REF_RGD_ID:13464267 11733069 SELL selectin L gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:3655 D RGD:9068941 20200609 RGD PMID:22044737|REF_RGD_ID:5685697 11733069 SELL selectin L gene DOID:9004009 Reperfusion Injury ISO RGD:3655 D RGD:9068941 20200609 RGD PMID:19489247|REF_RGD_ID:2313598 11733069 SELL selectin L gene DOID:9004283 Transplant Rejection ISO RGD:1342543 D RGD:9068941 20200609 RGD PMID:11095659|REF_RGD_ID:7175511 11733069 SELL selectin L gene DOID:9004484 Sepsis ISO RGD:3655 D RGD:9068941 20200609 RGD PMID:15677732|PMID:16026013|REF_RGD_ID:5685706|REF_RGD_ID:5686285 11733069 SELL selectin L gene DOID:9004968 Yin Deficiency ISO RGD:3655 D RGD:9068941 20220915 RGD protein:increased expression:serum PMID:29729385|REF_RGD_ID:153350148 11733069 SELL selectin L gene DOID:9005372 Inflammation ISO RGD:737030 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix, vagina PMID:22391529|REF_RGD_ID:6480101 11733069 SELL selectin L gene DOID:9006439 Electric Burns ISO RGD:3655 D RGD:9068941 20200609 RGD PMID:21641115|REF_RGD_ID:5685698 11733069 SELL selectin L gene DOID:9007096 Stroke susceptibility ISO RGD:1342543 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P213S (human) PMID:21465128|REF_RGD_ID:5685695 11733069 SELL selectin L gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1342543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 11733069 SELL selectin L gene DOID:9008884 Decompression Sickness ISO RGD:3655 D RGD:9068941 20200609 RGD protein:increased expression:brain, lung, quadriceps PMID:18279101|REF_RGD_ID:5685701 11733069 SELL selectin L gene DOID:9074 systemic lupus erythematosus ISO RGD:1342543 D RGD:9068941 20200609 RGD PMID:20512127|REF_RGD_ID:7175284 11733069 SELL selectin L gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1342543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11733069 SELL selectin L gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1342543 D RGD:9068941 20200609 RGD PMID:22119815|REF_RGD_ID:7175303 11733069 SELL selectin L gene DOID:9744 type 1 diabetes mellitus ISO RGD:737030 D RGD:9068941 20220825 MouseDO OMIM:222100 11733082 NECTIN1 nectin cell adhesion molecule 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1350722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 11733082 NECTIN1 nectin cell adhesion molecule 1 gene DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome ISO RGD:1350722 D RGD:7240710 20180130 OMIM 11733082 NECTIN1 nectin cell adhesion molecule 1 gene DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome ISO RGD:1350722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome PMID:10932188|PMID:11559849|PMID:11756979|PMID:12893758|PMID:16195396|PMID:16674562|PMID:17089422|PMID:18223281|PMID:19132250|PMID:19715471|PMID:23560673|PMID:24560896|PMID:25741868|PMID:28492532|PMID:3035184 11733082 NECTIN1 nectin cell adhesion molecule 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1350722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11733082 NECTIN1 nectin cell adhesion molecule 1 gene DOID:0080400 orofacial cleft 7 ISO RGD:1350722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofacial cleft 7 PMID:10932188|PMID:11559849 11733082 NECTIN1 nectin cell adhesion molecule 1 gene DOID:0080690 RASopathy ISO RGD:1350722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11733082 NECTIN1 nectin cell adhesion molecule 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1350722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 11733082 NECTIN1 nectin cell adhesion molecule 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1350722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 11733082 NECTIN1 nectin cell adhesion molecule 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1350722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 11733082 NECTIN1 nectin cell adhesion molecule 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1350722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 11733082 NECTIN1 nectin cell adhesion molecule 1 gene DOID:2121 ectodermal dysplasia ISO RGD:1350722 D RGD:9068941 20200609 RGD cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X PMID:10932188|REF_RGD_ID:1599795 11733082 NECTIN1 nectin cell adhesion molecule 1 gene DOID:5419 schizophrenia ISO RGD:1350722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11733082 NECTIN1 nectin cell adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:1350722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733082 NECTIN1 nectin cell adhesion molecule 1 gene DOID:674 cleft palate ISO RGD:1350722 D RGD:9068941 20200609 RGD cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X PMID:10932188|REF_RGD_ID:1599795 11733082 NECTIN1 nectin cell adhesion molecule 1 gene DOID:8566 herpes simplex ISO RGD:1350722 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10729168 11733082 NECTIN1 nectin cell adhesion molecule 1 gene DOID:9002834 Herpesviridae Infections ISO RGD:1350722 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10932188 11733082 NECTIN1 nectin cell adhesion molecule 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1350722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11733082 NECTIN1 nectin cell adhesion molecule 1 gene DOID:9007661 Dwarfism ISO RGD:1350722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11733082 NECTIN1 nectin cell adhesion molecule 1 gene DOID:9296 cleft lip ISO RGD:1350722 D RGD:9068941 20200609 RGD cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X PMID:10932188|REF_RGD_ID:1599795 11733095 DLK2 delta like non-canonical Notch ligand 2 gene DOID:0050444 infantile Refsum disease ISO RGD:1319320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11733095 DLK2 delta like non-canonical Notch ligand 2 gene DOID:630 genetic disease ISO RGD:1319320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733095 DLK2 delta like non-canonical Notch ligand 2 gene DOID:905 Zellweger syndrome ISO RGD:1319320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11733118 GNA15 G protein subunit alpha 15 gene DOID:630 genetic disease ISO RGD:732130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733118 GNA15 G protein subunit alpha 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11733129 ZG16B zymogen granule protein 16B gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11733129 ZG16B zymogen granule protein 16B gene DOID:1826 epilepsy ISO RGD:1605005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11733129 ZG16B zymogen granule protein 16B gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605005 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11733129 ZG16B zymogen granule protein 16B gene DOID:630 genetic disease ISO RGD:1605005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733130 PLCD4 phospholipase C delta 4 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1346447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11733130 PLCD4 phospholipase C delta 4 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1346447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11733130 PLCD4 phospholipase C delta 4 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1346447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11733130 PLCD4 phospholipase C delta 4 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1346447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11733130 PLCD4 phospholipase C delta 4 gene DOID:630 genetic disease ISO RGD:1346447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733130 PLCD4 phospholipase C delta 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11733167 EGR1 early growth response 1 gene DOID:0050328 congenital hypothyroidism ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:23079472|REF_RGD_ID:10395304 11733167 EGR1 early growth response 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:10512 D RGD:9068941 20220825 MouseDO OMIM:614286 11733167 EGR1 early growth response 1 gene DOID:0070004 myeloid neoplasm ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:17420284|REF_RGD_ID:5131859 11733167 EGR1 early growth response 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:737111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11733167 EGR1 early growth response 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:737111 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11733167 EGR1 early growth response 1 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:10512 D RGD:9068941 20200626 RGD PMID:17420284|REF_RGD_ID:5131859 11733167 EGR1 early growth response 1 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:737111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 11733167 EGR1 early growth response 1 gene DOID:10325 silicosis ISO RGD:2544 D RGD:9068941 20200609 RGD protein:increased expression:lung, epithelial cell, macrophage (rat) PMID:15033019|REF_RGD_ID:5131937 11733167 EGR1 early growth response 1 gene DOID:10652 Alzheimer's disease ISO RGD:737111 D RGD:9068941 20200609 RGD protein:increased expression:temporal cortex, hippocampus (human) PMID:21489990|REF_RGD_ID:5131647 11733167 EGR1 early growth response 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:21969301|PMID:23642031|REF_RGD_ID:10395277|REF_RGD_ID:10395279 11733167 EGR1 early growth response 1 gene DOID:11111 hydronephrosis ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25015655 11733167 EGR1 early growth response 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:10512 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:16713977|REF_RGD_ID:5131902 11733167 EGR1 early growth response 1 gene DOID:11832 visual epilepsy ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:23744421|REF_RGD_ID:10395306 11733167 EGR1 early growth response 1 gene DOID:12858 Huntington's disease ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:12191502|REF_RGD_ID:10395281 11733167 EGR1 early growth response 1 gene DOID:13406 pulmonary sarcoidosis ISO RGD:737111 D RGD:9068941 20200609 RGD protein:increased expression:lung (human) PMID:16933469|REF_RGD_ID:5131899 11733167 EGR1 early growth response 1 gene DOID:13580 cholestasis ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224055 11733167 EGR1 early growth response 1 gene DOID:1612 breast cancer ISO RGD:2544 D RGD:9068941 20200609 RGD protein:decreased expression:tumor (rat) PMID:9212230|REF_RGD_ID:5131943 11733167 EGR1 early growth response 1 gene DOID:1612 breast cancer ISO RGD:737111 D RGD:9068941 20200609 RGD protein:decreased expression:tumor (human) PMID:9212230|REF_RGD_ID:5131943 11733167 EGR1 early growth response 1 gene DOID:1712 aortic valve stenosis ISO RGD:737111 D RGD:9068941 20200609 RGD protein:increased expression:aortic valve cusp PMID:15597579|REF_RGD_ID:1626496 11733167 EGR1 early growth response 1 gene DOID:1724 duodenal ulcer ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:24385009|REF_RGD_ID:8694318 11733167 EGR1 early growth response 1 gene DOID:1749 squamous cell carcinoma ISO RGD:737111 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 11733167 EGR1 early growth response 1 gene DOID:1826 epilepsy ISO RGD:10512 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (mouse) PMID:21559295|REF_RGD_ID:5131860 11733167 EGR1 early growth response 1 gene DOID:1852 intrahepatic cholestasis ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18364083|PMID:22094456 11733167 EGR1 early growth response 1 gene DOID:2316 brain ischemia ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17394460 11733167 EGR1 early growth response 1 gene DOID:2349 arteriosclerosis ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:14670837|REF_RGD_ID:5131652 11733167 EGR1 early growth response 1 gene DOID:2349 arteriosclerosis ISO RGD:10512 D RGD:9068941 20200609 RGD protein:increased expression:atherosclerotic lesions, vascular associated smooth muscle cell, nucleus (mouse) PMID:21099169|REF_RGD_ID:5131874 11733167 EGR1 early growth response 1 gene DOID:2349 arteriosclerosis ISO RGD:737111 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:carotid artery, plaque (human) PMID:10712437|REF_RGD_ID:5131645 11733167 EGR1 early growth response 1 gene DOID:2841 asthma ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:11254538|REF_RGD_ID:5131985 11733167 EGR1 early growth response 1 gene DOID:2841 asthma ISO RGD:737111 D RGD:9068941 20200609 RGD DNA:snp:5' utr:g.-4071A>G rs7729723 (human) PMID:18507785|REF_RGD_ID:5131993 11733167 EGR1 early growth response 1 gene DOID:2841 asthma ISO RGD:737111 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchoalveolar lavage cell (human) PMID:18774390|REF_RGD_ID:5130915 11733167 EGR1 early growth response 1 gene DOID:289 endometriosis ISO RGD:2544 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ovary PMID:23427178|REF_RGD_ID:10395305 11733167 EGR1 early growth response 1 gene DOID:305 carcinoma disease_progression ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:19200397|REF_RGD_ID:5131888 11733167 EGR1 early growth response 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:10512 D RGD:9068941 20200609 RGD associated with Tobacco Use Disorder PMID:20417178|REF_RGD_ID:5131878 11733167 EGR1 early growth response 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737111 D RGD:9068941 20200609 RGD associated with Tobacco Use Disorder;mRNA:increased expression:lung (human) PMID:15469929|REF_RGD_ID:5131854 11733167 EGR1 early growth response 1 gene DOID:326 ischemia ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12468449 11733167 EGR1 early growth response 1 gene DOID:3347 osteosarcoma ISO RGD:737111 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor (human) PMID:21283769|REF_RGD_ID:5131662 11733167 EGR1 early growth response 1 gene DOID:3355 fibrosarcoma ISO RGD:10512 D RGD:9068941 20200609 RGD human tumor line expressing mouse gene in mouse model PMID:7585551|REF_RGD_ID:5131944 11733167 EGR1 early growth response 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:22645329|REF_RGD_ID:10395314 11733167 EGR1 early growth response 1 gene DOID:3770 pulmonary fibrosis ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:19679873|REF_RGD_ID:5131644 11733167 EGR1 early growth response 1 gene DOID:3770 pulmonary fibrosis ISO RGD:10512 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:20539010|REF_RGD_ID:5131877 11733167 EGR1 early growth response 1 gene DOID:3770 pulmonary fibrosis disease_progression ISO RGD:737111 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19347046|REF_RGD_ID:4144870 11733167 EGR1 early growth response 1 gene DOID:3908 lung non-small cell carcinoma resistance ISO RGD:737111 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor (human) PMID:15774784|REF_RGD_ID:5131925 11733167 EGR1 early growth response 1 gene DOID:417 autoimmune disease ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 11733167 EGR1 early growth response 1 gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:737111 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor (human) PMID:11948124|REF_RGD_ID:5131942 11733167 EGR1 early growth response 1 gene DOID:4989 pancreatitis ISO RGD:2544 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas (rat) PMID:16124058|REF_RGD_ID:5131939 11733167 EGR1 early growth response 1 gene DOID:5082 liver cirrhosis ISO RGD:2544 D RGD:9068941 20200609 RGD protein:increased expression:liver, nucleus PMID:22292946|REF_RGD_ID:10395298 11733167 EGR1 early growth response 1 gene DOID:552 pneumonia ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29787794 11733167 EGR1 early growth response 1 gene DOID:6132 bronchitis ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:17384085|REF_RGD_ID:5132266 11733167 EGR1 early growth response 1 gene DOID:630 genetic disease ISO RGD:737111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733167 EGR1 early growth response 1 gene DOID:6432 pulmonary hypertension ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:20889906|REF_RGD_ID:5131875 11733167 EGR1 early growth response 1 gene DOID:6432 pulmonary hypertension ISO RGD:10512 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (mouse) PMID:18599502|REF_RGD_ID:5131890 11733167 EGR1 early growth response 1 gene DOID:6432 pulmonary hypertension ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:21924231|REF_RGD_ID:10395308 11733167 EGR1 early growth response 1 gene DOID:6432 pulmonary hypertension ISO RGD:2544 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (rat) PMID:20023177|REF_RGD_ID:5131883 11733167 EGR1 early growth response 1 gene DOID:6432 pulmonary hypertension ISO RGD:737111 D RGD:9068941 20200609 RGD protein:increased expression:lung (human) PMID:20889906|REF_RGD_ID:5131875 11733167 EGR1 early growth response 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11733167 EGR1 early growth response 1 gene DOID:684 hepatocellular carcinoma ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11733167 EGR1 early growth response 1 gene DOID:8398 osteoarthritis ISO RGD:737111 D RGD:9068941 20200609 RGD mRNA, protein: decreased expression PMID:10806043|REF_RGD_ID:1626498 11733167 EGR1 early growth response 1 gene DOID:850 lung disease ISO RGD:10512 D RGD:9068941 20200609 RGD Ventilator-Induced Lung Injury PMID:20110555|REF_RGD_ID:5131881 11733167 EGR1 early growth response 1 gene DOID:850 lung disease ISO RGD:10512 D RGD:9068941 20200609 RGD Ventilator-Induced Lung Injury; protein:increased expression:lung (mouse) PMID:18356564|REF_RGD_ID:5131893 11733167 EGR1 early growth response 1 gene DOID:850 lung disease ISO RGD:2544 D RGD:9068941 20200609 RGD Ventilator-Induced Lung Injury; mRNA:increased expression:lung (rat) PMID:12816737|REF_RGD_ID:5131898 11733167 EGR1 early growth response 1 gene DOID:9001472 Nasal Polyps ISO RGD:737111 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal polyp (human) PMID:19158123|REF_RGD_ID:4890001 11733167 EGR1 early growth response 1 gene DOID:9001488 Human Influenza ISO RGD:10512 D RGD:9068941 20200609 RGD mRNA:increased expression:frontal cortex (mouse) PMID:21289196|REF_RGD_ID:5131660 11733167 EGR1 early growth response 1 gene DOID:9001553 Spinal Cord Compression ISO RGD:2544 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord dorsal horn (rat) PMID:20675054|REF_RGD_ID:5131876 11733167 EGR1 early growth response 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16552752 11733167 EGR1 early growth response 1 gene DOID:9002669 Hypoxia ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12468449 11733167 EGR1 early growth response 1 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:19188657|REF_RGD_ID:5131872 11733167 EGR1 early growth response 1 gene DOID:9003163 Heart Block ISO RGD:10512 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (mouse) PMID:15809371|REF_RGD_ID:5131924 11733167 EGR1 early growth response 1 gene DOID:9003230 Graft Occlusion, Vascular treatment ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:23586030|REF_RGD_ID:10395312 11733167 EGR1 early growth response 1 gene DOID:9003566 Mesothelioma ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15878867 11733167 EGR1 early growth response 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:737111 D RGD:9068941 20200609 RGD DNA:snp:5' utr:g.-4071A>G rs7729723 (human) PMID:19833116|REF_RGD_ID:5131984 11733167 EGR1 early growth response 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2544 D RGD:9068941 20200609 RGD mRNA:increased expression:forebrain (rat) PMID:7684483|REF_RGD_ID:2289081 11733167 EGR1 early growth response 1 gene DOID:9003936 Cardiomegaly ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:16025126|REF_RGD_ID:5131654 11733167 EGR1 early growth response 1 gene DOID:9004009 Reperfusion Injury ISO RGD:10512 D RGD:9068941 20200609 RGD Lung Reperfusion Injury PMID:16551742|REF_RGD_ID:5131903 11733167 EGR1 early growth response 1 gene DOID:9004009 Reperfusion Injury ISO RGD:10512 D RGD:9068941 20200609 RGD Lung Reperfusion Injury; protein:increased expression:lung, nucleus (mouse) PMID:19342415|REF_RGD_ID:5131887 11733167 EGR1 early growth response 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2544 D RGD:9068941 20200609 RGD Lung Reperfusion Injury; protein:increased expression:lung, nucleus (rat) PMID:16488723|REF_RGD_ID:5131904 11733167 EGR1 early growth response 1 gene DOID:9004009 Reperfusion Injury ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12468449 11733167 EGR1 early growth response 1 gene DOID:9004118 Experimental Melanoma ISO RGD:10512 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:salivary gland (mouse) PMID:19517020|REF_RGD_ID:5131885 11733167 EGR1 early growth response 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11733167 EGR1 early growth response 1 gene DOID:9005172 Lung Neoplasms ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 11733167 EGR1 early growth response 1 gene DOID:9005372 Inflammation ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22094456 11733167 EGR1 early growth response 1 gene DOID:9005396 Intimal Hyperplasia treatment ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:23774133|REF_RGD_ID:10395302 11733167 EGR1 early growth response 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16157275|PMID:16738229|PMID:18311559 11733167 EGR1 early growth response 1 gene DOID:9005632 Cocaine-Related Disorders treatment ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:21309948|PMID:25309368|REF_RGD_ID:10395309|REF_RGD_ID:10400880 11733167 EGR1 early growth response 1 gene DOID:9006827 Lung Reperfusion Injury ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:23232597|REF_RGD_ID:10395299 11733167 EGR1 early growth response 1 gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:22878149|REF_RGD_ID:10395282 11733167 EGR1 early growth response 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737111 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11733167 EGR1 early growth response 1 gene DOID:9007877 Fetal Hypoxia ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:23427086|REF_RGD_ID:10395301 11733167 EGR1 early growth response 1 gene DOID:9008023 Memory Disorders treatment ISO RGD:2544 D RGD:9068941 20200609 RGD associated with Congenital Hypothyroidism PMID:22192600|REF_RGD_ID:10395310 11733167 EGR1 early growth response 1 gene DOID:9008113 Tissue Adhesions ISO RGD:2544 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:peritoneum, adhesion (rat) PMID:14961185|REF_RGD_ID:5131938 11733167 EGR1 early growth response 1 gene DOID:9008331 Tendon Injuries treatment ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:23519232|REF_RGD_ID:10395300 11733167 EGR1 early growth response 1 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:22153973|REF_RGD_ID:10395307 11733167 EGR1 early growth response 1 gene DOID:9008884 Decompression Sickness ISO RGD:2544 D RGD:9068941 20200609 RGD mRNA:increased expression:lungs (rat) PMID:17310878|REF_RGD_ID:5131894 11733167 EGR1 early growth response 1 gene DOID:9446 cholangitis ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 11733167 EGR1 early growth response 1 gene DOID:9675 pulmonary emphysema ISO RGD:10512 D RGD:9068941 20200609 RGD associated with Tobacco Use Disorder;protein:increased expression:lung, epithelial cell (mouse) PMID:16601242|REF_RGD_ID:5131892 11733167 EGR1 early growth response 1 gene DOID:9675 pulmonary emphysema ISO RGD:737111 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (human) PMID:11021835|REF_RGD_ID:5131973 11733167 EGR1 early growth response 1 gene DOID:9675 pulmonary emphysema resistance ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:18830406|REF_RGD_ID:5131853 11733173 NIBAN2 niban apoptosis regulator 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11733173 NIBAN2 niban apoptosis regulator 2 gene DOID:0080436 developmental and epileptic encephalopathy 4 ISO RGD:1315963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4 PMID:25741868 11733173 NIBAN2 niban apoptosis regulator 2 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1315963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11733173 NIBAN2 niban apoptosis regulator 2 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1315963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 11733173 NIBAN2 niban apoptosis regulator 2 gene DOID:0080600 COVID-19 ISO RGD:1315963 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11733173 NIBAN2 niban apoptosis regulator 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11733173 NIBAN2 niban apoptosis regulator 2 gene DOID:630 genetic disease ISO RGD:1315963 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733191 CFTR CF transmembrane conductance regulator gene DOID:0050127 sinusitis ISO RGD:619566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16083808 11733191 CFTR CF transmembrane conductance regulator gene DOID:0050127 sinusitis susceptibility ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:11773581|REF_RGD_ID:4140477 11733191 CFTR CF transmembrane conductance regulator gene DOID:0060041 autism spectrum disorder ISO RGD:619566 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11733191 CFTR CF transmembrane conductance regulator gene DOID:0060643 primary sclerosing cholangitis susceptibility ISO RGD:619566 D RGD:9068941 20200609 RGD associated with inflammatory bowel disease; DNA:misense mutations:multiple PMID:12783301|REF_RGD_ID:25671445 11733191 CFTR CF transmembrane conductance regulator gene DOID:0070187 Y-linked spermatogenic failure 2 ISO RGD:619566 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Spermatogenic failure, Y-linked, 2 PMID:11280952|PMID:12767731|PMID:1380943|PMID:15371902|PMID:15614862|PMID:1712898|PMID:18456578|PMID:19885835|PMID:1998343|PMID:20301428|PMID:20865572|PMID:21228398|PMID:21520337|PMID:21679131|PMID:22020151|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24440181|PMID:25326635|PMID:25489051|PMID:25741868|PMID:25799511|PMID:26075213|PMID:28492532|PMID:28603918 11733191 CFTR CF transmembrane conductance regulator gene DOID:0080216 duodenal atresia ISO RGD:619566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Duodenal stenosis PMID:10103316|PMID:10425036|PMID:10782933|PMID:10950058|PMID:10963013|PMID:11186891|PMID:11280952|PMID:11547256|PMID:11733566|PMID:11924117|PMID:12400067|PMID:1370875|PMID:1377276|PMID:1379413|PMID:1380673|PMID:1381146|PMID:1384321|PMID:14618962|PMID:15141088|PMID:15246977|PMID:1536179|PMID:15367919|PMID:15371902|PMID:15482777|PMID:15640323|PMID:15905293|PMID:16075239|PMID:16283887|PMID:16478680|PMID:1673094|PMID:17035430|PMID:17048214|PMID:1715308|PMID:17175965|PMID:17206681|PMID:1723032|PMID:1756602|PMID:17692578|PMID:18180206|PMID:18234567|PMID:18394117|PMID:18456578|PMID:18507830|PMID:18796364|PMID:19176844|PMID:19227414|PMID:19459534|PMID:19837664|PMID:19878303|PMID:19885835|PMID:19925455|PMID:1997384|PMID:20021716|PMID:20116881|PMID:20301295|PMID:20301428|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20667826|PMID:20687163|PMID:20696241|PMID:20705837|PMID:20977904|PMID:21097845|PMID:21111762|PMID:21152102|PMID:21228398|PMID:21411740|PMID:21486785|PMID:21520337|PMID:21594800|PMID:21907281|PMID:21965669|PMID:21976147|PMID:21983488|PMID:22020151|PMID:2210767|PMID:2220803|PMID:22332135|PMID:2233932|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22427236|PMID:22449949|PMID:22569626|PMID:22658665|PMID:22680785|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22999299|PMID:2300168|PMID:23067305|PMID:23104983|PMID:23168765|PMID:23361109|PMID:23378603|PMID:23379606|PMID:23436935|PMID:23656801|PMID:23751316|PMID:23781395|PMID:2378364|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23951356|PMID:23974870|PMID:24033266|PMID:24375076|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24559724|PMID:24696795|PMID:24727426|PMID:2475911|PMID:24958810|PMID:24973281|PMID:25042876|PMID:25148434|PMID:25330774|PMID:25608981|PMID:25636364|PMID:25697321|PMID:2570460|PMID:25741868|PMID:25741869|PMID:25763566|PMID:25797027|PMID:25981758|PMID:26006199|PMID:26095523|PMID:26149808|PMID:26467025|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26648081|PMID:26800689|PMID:26911355|PMID:26976279|PMID:26989879|PMID:27171515|PMID:27298017|PMID:27334259|PMID:27469177|PMID:27577878|PMID:27660821|PMID:27673710|PMID:27738188|PMID:27805836|PMID:27898234|PMID:28129809|PMID:28325531|PMID:28492530|PMID:28492532|PMID:28603918|PMID:28606620|PMID:28617084|PMID:28930490|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29261177|PMID:29327948|PMID:29431110|PMID:29451946|PMID:29589582|PMID:29614238|PMID:29668297|PMID:29805046|PMID:29944384|PMID:30030066|PMID:30089726|PMID:30279124|PMID:30487145|PMID:30600599|PMID:30602999|PMID:30609409|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31310009|PMID:31447099|PMID:31523618|PMID:31589614|PMID:31788424|PMID:31980526|PMID:32429104|PMID:32761997|PMID:33083013|PMID:33118704|PMID:33144682|PMID:33270637|PMID:33365035|PMID:33713579|PMID:34426522|PMID:7517267|PMID:7533604|PMID:7537148|PMID:7540133|PMID:7560099|PMID:7691813|PMID:7789957|PMID:8092189|PMID:8659542|PMID:8740923|PMID:8844211|PMID:8886242|PMID:9135274|PMID:9235853|PMID:9272738|PMID:9439669|PMID:9493456|PMID:9618063 11733191 CFTR CF transmembrane conductance regulator gene DOID:0080526 bronchiectasis 1 ISO RGD:619566 D RGD:7240710 20180130 OMIM 11733191 CFTR CF transmembrane conductance regulator gene DOID:0080526 bronchiectasis 1 ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of | ClinVar Annotator: match by term: Hypertrypsinemia, neonatal, susceptibility to PMID:10103316|PMID:10200050|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10388469|PMID:10401194|PMID:10425036|PMID:10439967|PMID:10445602|PMID:10556281|PMID:10571949|PMID:10601093|PMID:10605524|PMID:10636451|PMID:10639207|PMID:10653141|PMID:10653145|PMID:10668931|PMID:10746558|PMID:10762539|PMID:10764788|PMID:10782933|PMID:10794365|PMID:10798368|PMID:10801389|PMID:10819640|PMID:10834512|PMID:10836331|PMID:10869121|PMID:10875853|PMID:10878476|PMID:10909845|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10982968|PMID:11005149|PMID:11055897|PMID:11069835|PMID:11101688|PMID:11137998|PMID:11158459|PMID:11168024|PMID:11186891|PMID:11242048|PMID:11280952|PMID:11303517|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11427889|PMID:11448786|PMID:11466205|PMID:11484207|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11597353|PMID:11668613|PMID:11729110|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11796434|PMID:11810271|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11938439|PMID:12007216|PMID:12014388|PMID:12080183|PMID:12120234|PMID:12127423|PMID:12167682|PMID:12215837|PMID:12357328|PMID:12397022|PMID:12400067|PMID:12422349|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12544470|PMID:12578973|PMID:12624947|PMID:12719375|PMID:12732620|PMID:12767731|PMID:12815607|PMID:1283148|PMID:1284477|PMID:1284534|PMID:1284538|PMID:1284540|PMID:1284639|PMID:12865275|PMID:12874665|PMID:12919146|PMID:12938099|PMID:12940920|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1373935|PMID:1376016|PMID:1377276|PMID:1379210|PMID:1379413|PMID:1380673|PMID:1381146|PMID:1381442|PMID:1381723|PMID:1382316|PMID:1384321|PMID:1384328|PMID:14526128|PMID:14618962|PMID:14685937|PMID:14993601|PMID:14998948|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15097853|PMID:15126740|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15241793|PMID:15246977|PMID:15287992|PMID:15300780|PMID:15354332|PMID:1536179|PMID:15365999|PMID:15367919|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15463888|PMID:15463907|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15504721|PMID:15536480|PMID:15638824|PMID:15640323|PMID:15698945|PMID:15698946|PMID:15738290|PMID:15758663|PMID:15775704|PMID:15776432|PMID:15857421|PMID:15858154|PMID:15905293|PMID:15948195|PMID:15987793|PMID:15994263|PMID:16020494|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16126774|PMID:16132229|PMID:16134171|PMID:16189704|PMID:16199547|PMID:16251901|PMID:16263954|PMID:16266832|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16339147|PMID:16362824|PMID:16436643|PMID:16442101|PMID:16443646|PMID:16478680|PMID:16488363|PMID:16499810|PMID:16596947|PMID:16617247|PMID:1673094|PMID:16778407|PMID:16778595|PMID:1678049|PMID:16784904|PMID:16801189|PMID:1682496|PMID:16840743|PMID:1695717|PMID:16963320|PMID:16980811|PMID:17003641|PMID:17015492|PMID:17035430|PMID:17048214|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:1712898|PMID:1715308|PMID:1716180|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1723032|PMID:17235394|PMID:17314234|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17353351|PMID:17380060|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17516627|PMID:1756602|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17594397|PMID:17662673|PMID:17663888|PMID:17681820|PMID:17692578|PMID:17890437|PMID:17901983|PMID:17949679|PMID:18078365|PMID:18178635|PMID:18180206|PMID:18193900|PMID:18230692|PMID:18234567|PMID:18306312|PMID:18373402|PMID:18394117|PMID:18421494|PMID:18449561|PMID:18456578|PMID:18501000|PMID:18507830|PMID:18556774|PMID:18567645|PMID:18639722|PMID:18685558|PMID:18687795|PMID:18703788|PMID:18716917|PMID:18778819|PMID:18796364|PMID:18951463|PMID:19092437|PMID:19176844|PMID:19181854|PMID:19202204|PMID:19227414|PMID:19265749|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19359498|PMID:1937486|PMID:19459534 11733191 CFTR CF transmembrane conductance regulator gene DOID:0080526 bronchiectasis 1 ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of | ClinVar Annotator: match by term: Hypertrypsinemia, neonatal, susceptibility to PMID:19491324|PMID:19550280|PMID:19625452|PMID:19652440|PMID:19734299|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19845690|PMID:19846789|PMID:19858235|PMID:19878303|PMID:19880712|PMID:19885835|PMID:19897426|PMID:19914431|PMID:19925455|PMID:1997384|PMID:1999830|PMID:20021716|PMID:20052365|PMID:20059485|PMID:20116881|PMID:20163773|PMID:20167849|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20381036|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20510657|PMID:20522854|PMID:20538955|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20651897|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20717170|PMID:20722470|PMID:20797923|PMID:20837875|PMID:20849526|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20977904|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21228398|PMID:2135388|PMID:21411740|PMID:21416780|PMID:21486785|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21594800|PMID:21642448|PMID:21658649|PMID:21679131|PMID:21716075|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21804385|PMID:21811577|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21931512|PMID:21965669|PMID:21976147|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22138447|PMID:2220803|PMID:22293084|PMID:22299590|PMID:22318583|PMID:22324837|PMID:22326559|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22395041|PMID:22423042|PMID:22427236|PMID:22449949|PMID:22468138|PMID:22569626|PMID:22572128|PMID:22658665|PMID:22664493|PMID:22678879|PMID:22680785|PMID:22768251|PMID:22842702|PMID:22874010|PMID:22942289|PMID:22950544|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22999299|PMID:2300168|PMID:23027855|PMID:23067305|PMID:23082198|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23361109|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23405520|PMID:23420618|PMID:23436935|PMID:2344617|PMID:23466340|PMID:2349952|PMID:23514810|PMID:23523379|PMID:23590265|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23709221|PMID:23721890|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23758905|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23810505|PMID:238191399|PMID:23837941|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23924900|PMID:23951356|PMID:2397487|PMID:23974870|PMID:24033266|PMID:24066763|PMID:24081349|PMID:24129438|PMID:24243928|PMID:24269240|PMID:24375076|PMID:2441227|PMID:24412276|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24525081|PMID:24559724|PMID:24586523|PMID:24631642|PMID:24696795|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24784896|PMID:24813944|PMID:24958810|PMID:24973281|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25087612|PMID:25122143|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25192979|PMID:25203624|PMID:25251442|PMID:25266159|PMID:25274949|PMID:25287046|PMID:25311995|PMID:25330774|PMID:25333069|PMID:25383785|PMID:25443471|PMID:25473543|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25536748|PMID:25580864|PMID:25583415|PMID:25608981|PMID:25636364|PMID:25651269|PMID:25682022|PMID:25697318|PMID:25697321|PMID:25698453|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25755212|PMID:25763566|PMID:25797027|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25900089|PMID:25910067|PMID:25940043|PMID:25963003|PMID:25981758|PMID:26006199|PMID:26014425|PMID:26070913|PMID:26087176|PMID:26095523|PMID:26098992|PMID:26135562|PMID:26149808|PMID:26182300|PMID:26199320|PMID:26277102|PMID:26324139|PMID:26348465|PMID:26436105|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26500004|PMID:26568242 11733191 CFTR CF transmembrane conductance regulator gene DOID:0080526 bronchiectasis 1 ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of | ClinVar Annotator: match by term: Hypertrypsinemia, neonatal, susceptibility to PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26708955|PMID:26795017|PMID:26800689|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26864378|PMID:26911355|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27086061|PMID:27143075|PMID:27158673|PMID:27171515|PMID:27264265|PMID:27298017|PMID:27334259|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27577878|PMID:27625827|PMID:27660821|PMID:27665964|PMID:27673710|PMID:27707539|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27787503|PMID:27805836|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28040058|PMID:28129809|PMID:28194692|PMID:28261631|PMID:28325531|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28440306|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28711222|PMID:28736296|PMID:28801929|PMID:28863137|PMID:28930490|PMID:28957316|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29113966|PMID:29124052|PMID:29126871|PMID:29133775|PMID:29173301|PMID:29202459|PMID:29216686|PMID:29261177|PMID:29298718|PMID:29327948|PMID:29360847|PMID:29431110|PMID:29451946|PMID:29484681|PMID:29497617|PMID:29504914|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29782810|PMID:29805046|PMID:29807875|PMID:29944384|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30046002|PMID:30089726|PMID:30232781|PMID:30244528|PMID:30279124|PMID:30348612|PMID:30420730|PMID:30444886|PMID:30487145|PMID:30488522|PMID:30548586|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30811104|PMID:30845638|PMID:30888834|PMID:30938940|PMID:30992994|PMID:30996306|PMID:31005549|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31118044|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31310009|PMID:31331863|PMID:31350925|PMID:31447099|PMID:31450232|PMID:31508243|PMID:31523618|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31682332|PMID:31788424|PMID:31808782|PMID:31916691|PMID:31980526|PMID:32026723|PMID:32204475|PMID:32281737|PMID:32292813|PMID:32357917|PMID:32429104|PMID:32662942|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32819855|PMID:33083013|PMID:33085659|PMID:33097431|PMID:33118704|PMID:33144682|PMID:33260873|PMID:33270637|PMID:33365035|PMID:33374015|PMID:33572515|PMID:33613790|PMID:33686728|PMID:33713579|PMID:33836782|PMID:33946859|PMID:33972190|PMID:34134972|PMID:34145097|PMID:34196078|PMID:34350279|PMID:34426522|PMID:34525262|PMID:34583889|PMID:34888852|PMID:34974990|PMID:34996830|PMID:35418593|PMID:35585144|PMID:35626323|PMID:35698092|PMID:5371902|PMID:7472820|PMID:7475569|PMID:7493947|PMID:7504969|PMID:7505767|PMID:7506096|PMID:7506605|PMID:7508414|PMID:7509310|PMID:7512860|PMID:7515303|PMID:7517267|PMID:7517268|PMID:7518829|PMID:7520798|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7529962|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7539080|PMID:754013|PMID:7540133|PMID:7541274|PMID:7541510|PMID:7542778|PMID:7544319|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581407|PMID:7599637|PMID:7668304|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7682196|PMID:7684641|PMID:7684646|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7691344|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7739684|PMID:7789957|PMID:7868128|PMID:8092189|PMID:8100293|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8605891|PMID:8659542|PMID:8662892|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8740923|PMID:8741733|PMID:8825494|PMID:8825927|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8880589|PMID:8886242 11733191 CFTR CF transmembrane conductance regulator gene DOID:0080526 bronchiectasis 1 ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of | ClinVar Annotator: match by term: Hypertrypsinemia, neonatal, susceptibility to PMID:8889582|PMID:8956039|PMID:9003498|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067761|PMID:9101293|PMID:9135274|PMID:9150159|PMID:9164051|PMID:9235853|PMID:9239681|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9305991|PMID:9321772|PMID:9374552|PMID:9375855|PMID:9383031|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9493456|PMID:9507391|PMID:9536098|PMID:9550361|PMID:9557894|PMID:9618063|PMID:9630075|PMID:9683582|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9799593|PMID:9806422|PMID:9822639|PMID:9881185|PMID:9915972|PMID:9921909|PMID:9950364|PMID:9950763 11733191 CFTR CF transmembrane conductance regulator gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:2332 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:bile duct epithelium PMID:18988797|REF_RGD_ID:2307071 11733191 CFTR CF transmembrane conductance regulator gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:619566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 11733191 CFTR CF transmembrane conductance regulator gene DOID:0111862 congenital bilateral absence of vas deferens ISO RGD:619566 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congenital bilateral absence of the vas deferens PMID:10762539|PMID:10875853|PMID:11101688|PMID:12815607|PMID:12955726|PMID:15070876|PMID:16189704|PMID:17331079|PMID:18951463|PMID:20460946|PMID:20837875|PMID:20880762|PMID:21228398|PMID:21520337|PMID:22992668|PMID:23891399|PMID:23974870|PMID:24033266|PMID:25087612|PMID:25741868|PMID:26014425|PMID:26467025|PMID:26708955|PMID:27171515|PMID:27469177|PMID:28492532|PMID:28603918|PMID:28800122|PMID:30873022|PMID:31268981|PMID:33374015|PMID:7539342|PMID:8530001|PMID:8662892|PMID:9239681|PMID:9598638 11733191 CFTR CF transmembrane conductance regulator gene DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens ISO RGD:619566 D RGD:7240710 20200619 OMIM 11733191 CFTR CF transmembrane conductance regulator gene DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation PMID:10077727|PMID:10094564|PMID:10103316|PMID:10200050|PMID:10204861|PMID:10206682|PMID:10225950|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10376575|PMID:10386624|PMID:10388469|PMID:10401194|PMID:10425036|PMID:10439967|PMID:10445602|PMID:10453741|PMID:10480369|PMID:10556281|PMID:10562297|PMID:10571949|PMID:10571955|PMID:10601093|PMID:10612827|PMID:10636451|PMID:10639207|PMID:10652351|PMID:10653141|PMID:10653145|PMID:10668931|PMID:10671057|PMID:10719683|PMID:10746558|PMID:10755189|PMID:10762539|PMID:10764788|PMID:10777364|PMID:10782933|PMID:10790220|PMID:10790222|PMID:10794365|PMID:10798368|PMID:10801389|PMID:10819640|PMID:10834512|PMID:10836331|PMID:10875853|PMID:10875876|PMID:10909845|PMID:10913957|PMID:10922395|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10970190|PMID:10993719|PMID:11005149|PMID:11038458|PMID:11055897|PMID:11069835|PMID:11101688|PMID:11118444|PMID:11137998|PMID:11158459|PMID:11168024|PMID:11180668|PMID:11186891|PMID:11242048|PMID:11278813|PMID:11280952|PMID:11303517|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11427889|PMID:11446424|PMID:11448786|PMID:11466205|PMID:11484207|PMID:11491162|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11597353|PMID:11668613|PMID:11729110|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11788611|PMID:11796434|PMID:11810271|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938353|PMID:11938439|PMID:12000363|PMID:12007216|PMID:12070257|PMID:12070264|PMID:12080183|PMID:12120234|PMID:12124706|PMID:12127423|PMID:12133923|PMID:12167682|PMID:12172395|PMID:12200467|PMID:12357328|PMID:12394343|PMID:12397022|PMID:12400067|PMID:12437773|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12544470|PMID:12578973|PMID:12624947|PMID:12651858|PMID:12719375|PMID:12732620|PMID:12752573|PMID:12759680|PMID:12767731|PMID:12815607|PMID:12825076|PMID:1283148|PMID:1283149|PMID:12843327|PMID:12843337|PMID:1284466|PMID:1284477|PMID:1284534|PMID:1284538|PMID:1284540|PMID:1284639|PMID:12865275|PMID:12874665|PMID:12900515|PMID:12919146|PMID:12938099|PMID:12940920|PMID:12955726|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1373935|PMID:1376016|PMID:1377276|PMID:1379210|PMID:1379413|PMID:1380673|PMID:1380689|PMID:1380943|PMID:1381146|PMID:1381442|PMID:1381723|PMID:1382316|PMID:1384321|PMID:1384328|PMID:14526128|PMID:14618962|PMID:14623323|PMID:14685259|PMID:14685937|PMID:14963811|PMID:14993601|PMID:14998948|PMID:15017334|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15084988|PMID:15088804|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15181619|PMID:15246977|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15354332|PMID:15357566|PMID:1536179|PMID:15365999|PMID:15367919|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371907|PMID:15371908|PMID:1545465|PMID:15463888|PMID:15463898|PMID:15463907|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15504721|PMID:15509635|PMID:15520400|PMID:15536480|PMID:15537723|PMID:15614862|PMID:15638824|PMID:15640323|PMID:15666307|PMID:15698945|PMID:15698946|PMID:15705292|PMID:15727251|PMID:15738290|PMID:15744523|PMID:15758663|PMID:15775704|PMID:15775760|PMID:15776432|PMID:15784035|PMID:15858154|PMID:15880796|PMID:15905293|PMID:15948195|PMID:15952991|PMID:15987793|PMID:15994263|PMID:16020494|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16126774|PMID:16128988|PMID:16132229|PMID:16137181|PMID:16189704|PMID:16196493|PMID:16199547|PMID:16202790|PMID:16240056|PMID:16251901|PMID:16263954|PMID:16266832|PMID:16272798|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16339147|PMID:16417523|PMID:16429425|PMID:16436643|PMID:16436646|PMID:16442101|PMID:16443646|PMID:16478680|PMID:16488363|PMID:16499810|PMID:16596947|PMID:16617247|PMID:1673094|PMID:16778407|PMID:16778595|PMID:1678049|PMID:16784904|PMID:16786510|PMID:16801189|PMID:1682496|PMID:16840743|PMID:16931591 11733191 CFTR CF transmembrane conductance regulator gene DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation PMID:1695717|PMID:16963320|PMID:16980811|PMID:17003641|PMID:17015492|PMID:17035430|PMID:17048214|PMID:17076271|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:1710600|PMID:1712898|PMID:1715308|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1723032|PMID:1723056|PMID:17234733|PMID:17272608|PMID:17314234|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17353351|PMID:17380060|PMID:17407485|PMID:17407489|PMID:17413420|PMID:17440499|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17507277|PMID:17516627|PMID:17560176|PMID:1756602|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17594398|PMID:17617039|PMID:17662673|PMID:17663888|PMID:17692578|PMID:17890437|PMID:17901983|PMID:17949679|PMID:17968991|PMID:17975025|PMID:18078365|PMID:18178635|PMID:18180206|PMID:18230692|PMID:18234567|PMID:18279436|PMID:18301294|PMID:18306312|PMID:18373402|PMID:18394117|PMID:18421494|PMID:18449561|PMID:18456578|PMID:18467194|PMID:18493878|PMID:18500736|PMID:18507830|PMID:18556774|PMID:18567645|PMID:18597042|PMID:18639722|PMID:18685558|PMID:18687795|PMID:18703181|PMID:18716917|PMID:18778819|PMID:18782298|PMID:18796364|PMID:18951463|PMID:19014055|PMID:19014821|PMID:1903761|PMID:19092437|PMID:19166122|PMID:19176844|PMID:19181743|PMID:19181854|PMID:19202204|PMID:19212293|PMID:19227414|PMID:19265749|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19359498|PMID:19372188|PMID:1937486|PMID:19406970|PMID:19447078|PMID:19459534|PMID:19491324|PMID:19540513|PMID:19550280|PMID:19625452|PMID:19652440|PMID:19707853|PMID:19710401|PMID:19715466|PMID:19724303|PMID:19734299|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19843100|PMID:19845690|PMID:19846789|PMID:19878303|PMID:19880712|PMID:19885835|PMID:19897426|PMID:19910374|PMID:19914431|PMID:19914443|PMID:19925455|PMID:1997384|PMID:1998343|PMID:1999830|PMID:20021716|PMID:20052365|PMID:20059485|PMID:20100616|PMID:20116881|PMID:20163773|PMID:20167849|PMID:20186691|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20381036|PMID:20416310|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20510657|PMID:20522854|PMID:20538955|PMID:20551465|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20651897|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20722470|PMID:20797923|PMID:20837875|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20880762|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20949073|PMID:20976528|PMID:20977904|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21198395|PMID:21228398|PMID:2135388|PMID:21354377|PMID:21411740|PMID:21416780|PMID:21429822|PMID:21474639|PMID:21483833|PMID:21486785|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21538969|PMID:21594800|PMID:21636331|PMID:21642448|PMID:21658649|PMID:21679131|PMID:21716075|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21811577|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21931512|PMID:21965669|PMID:21976147|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22138447|PMID:22148899|PMID:22156145|PMID:2220803|PMID:22293084|PMID:22299590|PMID:22310382|PMID:22318583|PMID:22326559|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22395041|PMID:22423042|PMID:22427236|PMID:22442927|PMID:22449949|PMID:22468138|PMID:22483971|PMID:22504961|PMID:22545782|PMID:22569626|PMID:22572128|PMID:22573477|PMID:22591852|PMID:22627569|PMID:22658665|PMID:22664493|PMID:2267887|PMID:22678879|PMID:22680785|PMID:22698459|PMID:22724884|PMID:22768251|PMID:22842702|PMID:22892530|PMID:22942289|PMID:22973227|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22995991|PMID:22999299|PMID:2300168|PMID:23017188|PMID:23027855|PMID:23065710|PMID:23067305|PMID:23076339|PMID:23082198|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23240968|PMID:23261175 11733191 CFTR CF transmembrane conductance regulator gene DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens ISO RGD:619566 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23361109|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23405520|PMID:23420618|PMID:23436935|PMID:2344617|PMID:23466340|PMID:2349952|PMID:23503723|PMID:23514810|PMID:23523379|PMID:23590265|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23688510|PMID:23709221|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23765052|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23810505|PMID:238191399|PMID:23820649|PMID:23837941|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23924900|PMID:23933162|PMID:23951356|PMID:23953609|PMID:2397487|PMID:23974870|PMID:24019231|PMID:24033266|PMID:24066763|PMID:24081349|PMID:24082139|PMID:24106596|PMID:24129438|PMID:24204751|PMID:24225052|PMID:24243928|PMID:24269240|PMID:24375076|PMID:24388274|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24525081|PMID:24559724|PMID:24586523|PMID:24631642|PMID:24633926|PMID:24696795|PMID:24697796|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24784896|PMID:24813944|PMID:24816901|PMID:24958810|PMID:24973281|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25077647|PMID:25087612|PMID:25122143|PMID:25133958|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25192979|PMID:25203624|PMID:25251442|PMID:25266159|PMID:25274949|PMID:25287046|PMID:25304080|PMID:25311995|PMID:25326635|PMID:25330774|PMID:25333069|PMID:25363320|PMID:25383785|PMID:25443471|PMID:25452595|PMID:25473543|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25553309|PMID:25580864|PMID:25583415|PMID:25608981|PMID:25636364|PMID:2565038|PMID:25651269|PMID:25667564|PMID:25674778|PMID:25682022|PMID:25688174|PMID:25697318|PMID:25697321|PMID:25698453|PMID:25704068|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25755212|PMID:25763566|PMID:25781545|PMID:25797027|PMID:25799511|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25900089|PMID:25905921|PMID:25910067|PMID:25940043|PMID:25963003|PMID:25981758|PMID:26003066|PMID:26006199|PMID:26014425|PMID:26070913|PMID:26075213|PMID:26087176|PMID:26095523|PMID:26098992|PMID:26135562|PMID:26146130|PMID:26149808|PMID:26160248|PMID:26182300|PMID:26199320|PMID:26208274|PMID:26277102|PMID:26324139|PMID:26348465|PMID:26364555|PMID:26429520|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26494713|PMID:26500004|PMID:26526220|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26651825|PMID:26708955|PMID:26755536|PMID:26795017|PMID:26800689|PMID:26823392|PMID:26826884|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26900683|PMID:26911355|PMID:26946416|PMID:26948992|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27081564|PMID:27086061|PMID:27143075|PMID:27145507|PMID:27158673|PMID:27171515|PMID:27174726|PMID:27209008|PMID:27214204|PMID:27222777|PMID:27264265|PMID:27298017|PMID:27334259|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27577878|PMID:27625827|PMID:27659740|PMID:27660821|PMID:27665964|PMID:27673710|PMID:27707539|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27805836|PMID:27812499|PMID:27870577|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28040058|PMID:28129809|PMID:28152038|PMID:28163942|PMID:28185838|PMID:28194692|PMID:28196530|PMID:28261631|PMID:28325531|PMID:28371569|PMID:28408918|PMID:28419121|PMID:28440306|PMID:28465863|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28711222|PMID:28736296|PMID:28771972|PMID:28785019|PMID:28800122|PMID:28801929|PMID:28830496|PMID:28863137|PMID:28930490|PMID:28947035|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29133775|PMID:29168366|PMID:29173301|PMID:29178639 11733191 CFTR CF transmembrane conductance regulator gene DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens ISO RGD:619566 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation PMID:29216686|PMID:29261177|PMID:29279204|PMID:29292091|PMID:29298718|PMID:29327948|PMID:29360847|PMID:29431110|PMID:29451946|PMID:29484681|PMID:29497617|PMID:29503250|PMID:29504914|PMID:29520692|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29685811|PMID:29750258|PMID:29754320|PMID:29779145|PMID:29805046|PMID:29807875|PMID:29944384|PMID:29983195|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30046002|PMID:30081288|PMID:30089726|PMID:30134826|PMID:30146269|PMID:30230364|PMID:30232781|PMID:30244528|PMID:30279124|PMID:30348612|PMID:30420730|PMID:30444886|PMID:30487145|PMID:30488522|PMID:30540547|PMID:30548586|PMID:30561903|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30698611|PMID:30726326|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30811104|PMID:30845638|PMID:30851139|PMID:30873022|PMID:30888834|PMID:30930780|PMID:30938940|PMID:30992994|PMID:30993151|PMID:30996306|PMID:31005549|PMID:31016917|PMID:31019283|PMID:31028937|PMID:31029283|PMID:31036917|PMID:31118044|PMID:31126253|PMID:31130284|PMID:31180159|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31268981|PMID:31310009|PMID:31328366|PMID:31331863|PMID:31350925|PMID:31447099|PMID:31450232|PMID:31508243|PMID:31523618|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31759907|PMID:31776420|PMID:31788424|PMID:31808782|PMID:31845523|PMID:31883651|PMID:31916691|PMID:31978131|PMID:31980526|PMID:31990467|PMID:32003480|PMID:32113160|PMID:32126153|PMID:32150665|PMID:32172930|PMID:32204475|PMID:32281737|PMID:32357917|PMID:32414100|PMID:32429104|PMID:32484936|PMID:32512765|PMID:32539862|PMID:32662942|PMID:32687833|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32934006|PMID:32935393|PMID:33020115|PMID:33083013|PMID:33097431|PMID:33118704|PMID:33144682|PMID:33195651|PMID:33260873|PMID:33270637|PMID:33296276|PMID:33341408|PMID:33365035|PMID:33374015|PMID:33375403|PMID:33393655|PMID:33424627|PMID:33468668|PMID:33495079|PMID:33572515|PMID:33613790|PMID:33686728|PMID:33713579|PMID:33836782|PMID:33922413|PMID:33946859|PMID:33972190|PMID:34099697|PMID:34134972|PMID:34145097|PMID:34196078|PMID:34405919|PMID:34426522|PMID:34525262|PMID:34583889|PMID:34888852|PMID:34974990|PMID:34996830|PMID:35109852|PMID:35418593|PMID:35527187|PMID:35585144|PMID:35626323|PMID:35698092|PMID:3716676|PMID:5371902|PMID:63921865|PMID:7472820|PMID:7475569|PMID:7493947|PMID:7504969|PMID:7505694|PMID:7505767|PMID:7506096|PMID:7506605|PMID:7508414|PMID:7509310|PMID:7509683|PMID:7509684|PMID:7512860|PMID:7512993|PMID:7513293|PMID:7513889|PMID:7515303|PMID:7516234|PMID:7517264|PMID:7517267|PMID:7517268|PMID:7518829|PMID:7520798|PMID:7521710|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7526928|PMID:7529319|PMID:7529962|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7539080|PMID:7539342|PMID:754013|PMID:7540133|PMID:7541274|PMID:7541510|PMID:7542778|PMID:7543317|PMID:7544319|PMID:7544320|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550227|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581407|PMID:7586569|PMID:7599637|PMID:7668304|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7682196|PMID:7683628|PMID:7683952|PMID:7684641|PMID:7684644|PMID:7684646|PMID:7686423|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7689897|PMID:7691344|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7739684|PMID:7789957|PMID:7868128|PMID:8092189|PMID:8100293|PMID:8163293|PMID:8343799|PMID:8406518|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8530001|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8605891|PMID:8644755|PMID:8659542|PMID:8662892|PMID:8663008|PMID:8680406|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8723695|PMID:8740923|PMID:8741733|PMID:8825494|PMID:8825927|PMID:8829633 11733191 CFTR CF transmembrane conductance regulator gene DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens ISO RGD:619566 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation PMID:8829643|PMID:8834261|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8880589|PMID:8886242|PMID:8889582|PMID:8910333|PMID:8947061|PMID:8956039|PMID:9003498|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9084934|PMID:9101293|PMID:9135274|PMID:9150159|PMID:9164051|PMID:9235853|PMID:9239681|PMID:9254853|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9305991|PMID:9321772|PMID:9374552|PMID:9375855|PMID:9383031|PMID:9401110|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9452054|PMID:9482579|PMID:9493456|PMID:9499426|PMID:9507391|PMID:9512029|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9550362|PMID:9557894|PMID:9598638|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9683582|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9799593|PMID:9804160|PMID:9806422|PMID:9822639|PMID:9915972|PMID:9920885|PMID:9921909|PMID:9950364|PMID:9950763 11733191 CFTR CF transmembrane conductance regulator gene DOID:10211 cholelithiasis ISO RGD:619566 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:liver (human) PMID:12184527|REF_RGD_ID:21408573 11733191 CFTR CF transmembrane conductance regulator gene DOID:10652 Alzheimer's disease ISO RGD:619566 D RGD:9068941 20200609 RGD protein:decreased expression:hypothalamus PMID:14757935|REF_RGD_ID:11566025 11733191 CFTR CF transmembrane conductance regulator gene DOID:10808 gastric ulcer treatment ISO RGD:2332 D RGD:9068941 20200609 RGD PMID:23596793|REF_RGD_ID:11567229 11733191 CFTR CF transmembrane conductance regulator gene DOID:11132 prostatic hypertrophy ISO RGD:619566 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:25546515|REF_RGD_ID:11566048 11733191 CFTR CF transmembrane conductance regulator gene DOID:11372 megacolon ISO RGD:619566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11733191 CFTR CF transmembrane conductance regulator gene DOID:11383 cryptorchidism ISO RGD:10331 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:testis PMID:22777528|REF_RGD_ID:11567213 11733191 CFTR CF transmembrane conductance regulator gene DOID:12336 male infertility ISO RGD:619566 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Male infertility PMID:11547256|PMID:11883825|PMID:12124706|PMID:15070876|PMID:15858154|PMID:15952991|PMID:15987793|PMID:16429425|PMID:17003641|PMID:17594398|PMID:17617039|PMID:18301294|PMID:18456578|PMID:19014055|PMID:19212293|PMID:19843100|PMID:20021716|PMID:20460946|PMID:21520337|PMID:21679131|PMID:22020151|PMID:22156145|PMID:22310382|PMID:22975760|PMID:22992668|PMID:23082198|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24082139|PMID:25033378|PMID:25087612|PMID:25304080|PMID:25583415|PMID:25741868|PMID:25910067|PMID:26467025|PMID:26526220|PMID:26755536|PMID:26990548|PMID:27086061|PMID:27171515|PMID:27214204|PMID:27469177|PMID:27659740|PMID:27738188|PMID:28129809|PMID:28492532|PMID:28544683|PMID:28603918|PMID:31036917|PMID:32414100|PMID:7586569|PMID:7739684|PMID:9804160 11733191 CFTR CF transmembrane conductance regulator gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:10331 D RGD:9068941 20200609 RGD DNA:mutation: : PMID:20015999|REF_RGD_ID:4140389 11733191 CFTR CF transmembrane conductance regulator gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:11243954|REF_RGD_ID:4140482 11733191 CFTR CF transmembrane conductance regulator gene DOID:1324 lung cancer susceptibility ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:deletion, SNP, haplotype: :p.F508del, rs10487372 (human) PMID:20116881|REF_RGD_ID:11566029 11733191 CFTR CF transmembrane conductance regulator gene DOID:13258 typhoid fever susceptibility ISO RGD:619566 D RGD:9068941 20200716 RGD DNA:repeats: :CA repeats(human) PMID:16078047|REF_RGD_ID:35673348 11733191 CFTR CF transmembrane conductance regulator gene DOID:13316 exocrine pancreatic insufficiency ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:insertion:exon:c.3904_3905insT (human) PMID:9254853|REF_RGD_ID:4140401 11733191 CFTR CF transmembrane conductance regulator gene DOID:13316 exocrine pancreatic insufficiency onset ISO RGD:619566 D RGD:9068941 20200609 RGD associated with cystic fibrosis; DNA:mutation:exon:p.R347P (human) PMID:8535440|REF_RGD_ID:4140448 11733191 CFTR CF transmembrane conductance regulator gene DOID:13406 pulmonary sarcoidosis ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:mutations:whole blood : PMID:20722470|REF_RGD_ID:4139905 11733191 CFTR CF transmembrane conductance regulator gene DOID:13564 aspergillosis severity ISO RGD:10331 D RGD:9068941 20200716 RGD PMID:22135344|REF_RGD_ID:35673332 11733191 CFTR CF transmembrane conductance regulator gene DOID:13580 cholestasis ISO RGD:2332 D RGD:9068941 20200609 RGD mRNA,Protein:increased expression PMID:15605366|REF_RGD_ID:1599598 11733191 CFTR CF transmembrane conductance regulator gene DOID:14227 azoospermia ISO RGD:619566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Obstructive azoospermia PMID:10103316|PMID:10341008|PMID:10425036|PMID:10556281|PMID:10571949|PMID:10653141|PMID:10668931|PMID:10746558|PMID:10782933|PMID:10801389|PMID:10812063|PMID:10869121|PMID:10875853|PMID:10909845|PMID:10923036|PMID:10950058|PMID:10963013|PMID:11069835|PMID:11168024|PMID:11186891|PMID:11242048|PMID:11280952|PMID:11303517|PMID:11354633|PMID:11484207|PMID:11491164|PMID:11504857|PMID:11547256|PMID:11729110|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11788090|PMID:11883825|PMID:11924117|PMID:12007216|PMID:12014388|PMID:12124706|PMID:12127423|PMID:12133923|PMID:12167682|PMID:12400067|PMID:12767731|PMID:1283148|PMID:1284534|PMID:1284535|PMID:1284639|PMID:12955726|PMID:1370875|PMID:1377276|PMID:1379210|PMID:1379413|PMID:1380673|PMID:1381146|PMID:1381723|PMID:1384321|PMID:1384326|PMID:14618962|PMID:14685937|PMID:14963811|PMID:14993601|PMID:15070876|PMID:15097853|PMID:15141088|PMID:15246977|PMID:1536179|PMID:15367919|PMID:15371902|PMID:15463907|PMID:15482777|PMID:15486385|PMID:15536480|PMID:15618592|PMID:15619635|PMID:15640323|PMID:15775704|PMID:15857421|PMID:15858154|PMID:15880796|PMID:15905293|PMID:15952991|PMID:15987793|PMID:16020494|PMID:16049310|PMID:16075239|PMID:16126774|PMID:16134171|PMID:16189704|PMID:16263954|PMID:16266832|PMID:16283887|PMID:16429425|PMID:16436643|PMID:16478680|PMID:16481891|PMID:16484308|PMID:1673094|PMID:16778595|PMID:16801189|PMID:16840743|PMID:1695717|PMID:17003641|PMID:17015492|PMID:17035430|PMID:17048214|PMID:1715308|PMID:17175965|PMID:17206681|PMID:1723032|PMID:17314234|PMID:17329263|PMID:17407485|PMID:17407489|PMID:17413420|PMID:17489851|PMID:1756602|PMID:17572159|PMID:17576681|PMID:17594397|PMID:17594398|PMID:17617039|PMID:17662673|PMID:17681820|PMID:17692578|PMID:17719933|PMID:18078365|PMID:18178635|PMID:18180206|PMID:18234567|PMID:18301294|PMID:18394117|PMID:18456578|PMID:18467194|PMID:18501000|PMID:18507830|PMID:18567645|PMID:18685558|PMID:18687795|PMID:18778819|PMID:18796364|PMID:18951463|PMID:19014055|PMID:19092437|PMID:19092444|PMID:19176844|PMID:19202204|PMID:19212293|PMID:19227414|PMID:19318035|PMID:1937486|PMID:19406970|PMID:19459534|PMID:19707853|PMID:1977306|PMID:19812525|PMID:19833837|PMID:19837664|PMID:19843100|PMID:19878303|PMID:19880712|PMID:19885835|PMID:19897426|PMID:19925455|PMID:1997384|PMID:20021716|PMID:20059485|PMID:20116881|PMID:20301295|PMID:20301428|PMID:20460946|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20717170|PMID:20797923|PMID:20837875|PMID:20849526|PMID:20923678|PMID:20977904|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21198395|PMID:21228398|PMID:21411740|PMID:21486785|PMID:21507732|PMID:21520337|PMID:21538969|PMID:21594800|PMID:21658649|PMID:21679131|PMID:21804385|PMID:21907281|PMID:21965669|PMID:21976147|PMID:21983488|PMID:22020151|PMID:2210767|PMID:22156145|PMID:2220803|PMID:22310382|PMID:22332135|PMID:2233932|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22427236|PMID:22449949|PMID:22569626|PMID:22572128|PMID:22658665|PMID:22664493|PMID:22680785|PMID:22842702|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22999299|PMID:2300168|PMID:23067305|PMID:23082198|PMID:23104983|PMID:23168765|PMID:23361109|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23420618|PMID:23436935|PMID:2344617|PMID:2349952|PMID:23613805|PMID:23656801|PMID:23716676|PMID:23721890|PMID:23751316|PMID:23781395|PMID:2378364|PMID:23810505|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23951356|PMID:23974870|PMID:24033266|PMID:24082139|PMID:24106596|PMID:24375076|PMID:24418186|PMID:24419263|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24451227|PMID:24559724|PMID:24586523|PMID:24631642|PMID:24696795|PMID:24727426|PMID:2475911|PMID:24958810|PMID:24973281|PMID:25033378|PMID:25042876|PMID:25087612|PMID:25148434|PMID:25251442|PMID:25287046|PMID:25304080|PMID:25330774|PMID:25583415|PMID:25608981|PMID:25636364|PMID:25697321|PMID:25698453|PMID:2570460 11733191 CFTR CF transmembrane conductance regulator gene DOID:14227 azoospermia ISO RGD:619566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Obstructive azoospermia PMID:25735457|PMID:25741868|PMID:25741869|PMID:25763566|PMID:25797027|PMID:25799511|PMID:25824995|PMID:25826586|PMID:25910067|PMID:25981758|PMID:26006199|PMID:26014425|PMID:26070913|PMID:26095523|PMID:26149808|PMID:26277102|PMID:26324139|PMID:26467025|PMID:26526220|PMID:26538069|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26648081|PMID:26708955|PMID:26755536|PMID:26800689|PMID:26846474|PMID:26900683|PMID:26911355|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27086061|PMID:27171515|PMID:27209008|PMID:27214204|PMID:27298017|PMID:27334259|PMID:27364092|PMID:27447098|PMID:27469177|PMID:27577878|PMID:27659740|PMID:27660821|PMID:27673710|PMID:27738188|PMID:27787503|PMID:27805836|PMID:27898234|PMID:28129809|PMID:28325531|PMID:28419121|PMID:28456595|PMID:28492530|PMID:28492532|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620|PMID:28617084|PMID:28655774|PMID:28736296|PMID:28801929|PMID:28930490|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29261177|PMID:29327948|PMID:29431110|PMID:29451946|PMID:29504914|PMID:29589582|PMID:29614238|PMID:29668297|PMID:29805046|PMID:29936070|PMID:29944384|PMID:30030066|PMID:30046002|PMID:30089726|PMID:30279124|PMID:30487145|PMID:30561903|PMID:30600599|PMID:30602999|PMID:30609409|PMID:30888834|PMID:30930780|PMID:30938940|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31310009|PMID:31447099|PMID:31523618|PMID:31589614|PMID:31776420|PMID:31788424|PMID:31808782|PMID:31980526|PMID:32414100|PMID:32429104|PMID:32761997|PMID:32935393|PMID:33020115|PMID:33083013|PMID:33118704|PMID:33144682|PMID:33270637|PMID:33365035|PMID:33572515|PMID:33713579|PMID:33972190|PMID:34196078|PMID:34426522|PMID:7506096|PMID:7508183|PMID:7508414|PMID:7509683|PMID:7512860|PMID:7517267|PMID:7522329|PMID:7524913|PMID:7529319|PMID:7533604|PMID:7537148|PMID:7539342|PMID:7540133|PMID:7544320|PMID:7544788|PMID:7560099|PMID:7573058|PMID:7586569|PMID:7599637|PMID:7680769|PMID:7682884|PMID:7683628|PMID:7684641|PMID:7684646|PMID:7686336|PMID:7689013|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7739684|PMID:7789957|PMID:8092189|PMID:8421472|PMID:8556303|PMID:8605891|PMID:8659542|PMID:8662892|PMID:8698344|PMID:8702904|PMID:8740923|PMID:8825927|PMID:8844211|PMID:8886242|PMID:8956039|PMID:8968585|PMID:9108869|PMID:9135274|PMID:9235853|PMID:9259194|PMID:9259197|PMID:9272157|PMID:9272738|PMID:9435322|PMID:9439669|PMID:9459534|PMID:9493456|PMID:9536098|PMID:9550361|PMID:9557894|PMID:9618063|PMID:9725922|PMID:9788722|PMID:9804160|PMID:9921909|PMID:9950763 11733191 CFTR CF transmembrane conductance regulator gene DOID:14766 renal agenesis ISO RGD:619566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11119745 11733191 CFTR CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:7240710 20180130 OMIM 11733191 CFTR CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis PMID:10026154|PMID:10050655|PMID:10077727|PMID:10094564|PMID:10103316|PMID:10200050|PMID:10204861|PMID:10206682|PMID:10220340|PMID:10225950|PMID:10228103|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10376575|PMID:10386624|PMID:10388469|PMID:10401194|PMID:10419506|PMID:10425036|PMID:10425081|PMID:10439967|PMID:10445602|PMID:10447267|PMID:10453741|PMID:10462611|PMID:10480369|PMID:10515411|PMID:10517260|PMID:10556281|PMID:10562297|PMID:10562541|PMID:10571949|PMID:10571955|PMID:10601093|PMID:10605524|PMID:10612827|PMID:10612849|PMID:10636451|PMID:10639207|PMID:10651488|PMID:10652351|PMID:10653140|PMID:10653141|PMID:10653145|PMID:10668931|PMID:10671057|PMID:10719683|PMID:10736180|PMID:10746558|PMID:10755189|PMID:10762539|PMID:10764788|PMID:10777364|PMID:10782933|PMID:10790220|PMID:10790222|PMID:10790225|PMID:10794365|PMID:10798353|PMID:10798368|PMID:10801389|PMID:10812063|PMID:10819640|PMID:10834512|PMID:10836331|PMID:10852925|PMID:10862085|PMID:10862786|PMID:10866956|PMID:10869121|PMID:10874326|PMID:10875853|PMID:10875874|PMID:10875876|PMID:10878476|PMID:10909845|PMID:10913957|PMID:10922395|PMID:10922396|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10970190|PMID:10980550|PMID:10980579|PMID:10982968|PMID:10993719|PMID:11001817|PMID:11005149|PMID:11022925|PMID:11025834|PMID:11038458|PMID:11055897|PMID:11069835|PMID:11101688|PMID:11102992|PMID:11108532|PMID:11118444|PMID:11119745|PMID:11137998|PMID:11158459|PMID:11168023|PMID:11168024|PMID:11171377|PMID:11180668|PMID:11186891|PMID:11216394|PMID:11219165|PMID:11242048|PMID:11276378|PMID:11278813|PMID:11280952|PMID:11288708|PMID:11288718|PMID:11295849|PMID:11303509|PMID:11303517|PMID:11336127|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11390899|PMID:11427889|PMID:11430710|PMID:11443282|PMID:11446424|PMID:11448786|PMID:11462247|PMID:11466205|PMID:11471192|PMID:11484207|PMID:11491162|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11555145|PMID:11585852|PMID:11589722|PMID:11597353|PMID:11668613|PMID:11729110|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11788091|PMID:11788611|PMID:11796430|PMID:11796434|PMID:11796591|PMID:11810271|PMID:11823443|PMID:11845002|PMID:11882668|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938353|PMID:11938439|PMID:11950844|PMID:12000363|PMID:12007216|PMID:12014388|PMID:12070257|PMID:12070264|PMID:12080183|PMID:12084728|PMID:12089190|PMID:12116247|PMID:12120234|PMID:12124706|PMID:12124743|PMID:12127423|PMID:12133923|PMID:12151438|PMID:12166651|PMID:12167682|PMID:12172395|PMID:12183675|PMID:12186867|PMID:12200467|PMID:12215837|PMID:12357328|PMID:12361483|PMID:12394343|PMID:12397022|PMID:12400067|PMID:12422349|PMID:12437773|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12521276|PMID:12529365|PMID:12529713|PMID:12530290|PMID:12544470|PMID:12578973|PMID:12624947|PMID:12630722|PMID:12651858|PMID:12651880|PMID:12658038|PMID:12679372|PMID:12719375|PMID:12732620|PMID:12752573|PMID:12759680|PMID:12767731|PMID:12783301|PMID:12815607|PMID:12820707|PMID:12825076|PMID:1282900|PMID:12829453|PMID:1283148|PMID:1283149|PMID:1283151|PMID:12833420|PMID:12843327|PMID:12843337|PMID:1284466|PMID:1284468|PMID:1284471|PMID:1284477|PMID:1284478|PMID:1284529|PMID:1284530|PMID:1284531|PMID:1284534|PMID:1284535|PMID:1284537|PMID:1284538|PMID:1284539|PMID:1284540|PMID:1284541|PMID:1284542|PMID:1284627|PMID:1284639|PMID:1284889|PMID:12865275|PMID:12874665|PMID:12900515|PMID:12913074|PMID:12919146|PMID:12938099|PMID:12939655|PMID:12939925|PMID:12940920|PMID:12952861|PMID:12955726|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1372093|PMID:1373934|PMID:1373935|PMID:1374052|PMID:1376016|PMID:1376017|PMID:1377276|PMID:1379210|PMID:1379211|PMID:1379413|PMID:1380673|PMID:1380689|PMID:1380943|PMID:1381146|PMID:1381442|PMID:1381723|PMID:1382316|PMID:1384321|PMID:1384326|PMID:1384328|PMID:14526128|PMID:14551163|PMID:14586256|PMID:14618962|PMID:14623323|PMID:14641997 11733191 CFTR CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis PMID:14685259|PMID:14685937|PMID:14696845|PMID:14872121|PMID:14963811|PMID:14993601|PMID:14998948|PMID:15008989|PMID:15017334|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15046061|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15084988|PMID:15088804|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15130785|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15181619|PMID:15218997|PMID:15241793|PMID:15246977|PMID:15284228|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15354332|PMID:15357566|PMID:1536179|PMID:15365999|PMID:15367919|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371905|PMID:15371907|PMID:15371908|PMID:15390350|PMID:1545465|PMID:15463840|PMID:15463866|PMID:15463882|PMID:15463888|PMID:15463898|PMID:15463906|PMID:15463907|PMID:15463917|PMID:15463919|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15502086|PMID:15504721|PMID:15507674|PMID:15509635|PMID:15520400|PMID:15531750|PMID:15536480|PMID:15537723|PMID:15562283|PMID:15591474|PMID:15614862|PMID:15618592|PMID:15619635|PMID:15638824|PMID:15640323|PMID:15645635|PMID:15666307|PMID:15681482|PMID:15698945|PMID:15698946|PMID:15705292|PMID:15705389|PMID:15716623|PMID:15727251|PMID:15729345|PMID:15738290|PMID:15744517|PMID:15744523|PMID:15744829|PMID:15754262|PMID:15758663|PMID:15772171|PMID:15775704|PMID:15775760|PMID:15776432|PMID:15784035|PMID:15829248|PMID:15840711|PMID:15853950|PMID:15857421|PMID:15858154|PMID:15880796|PMID:15905293|PMID:15948195|PMID:15952991|PMID:15970608|PMID:15987793|PMID:15994263|PMID:16020494|PMID:16037690|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16126774|PMID:16128988|PMID:16132229|PMID:16134171|PMID:16137181|PMID:16141195|PMID:16187186|PMID:16189704|PMID:16193325|PMID:16196493|PMID:16199547|PMID:16202790|PMID:16212675|PMID:16240056|PMID:16244288|PMID:16251901|PMID:16263954|PMID:16266832|PMID:16272798|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16311287|PMID:16339147|PMID:16362824|PMID:16379540|PMID:16417523|PMID:16423550|PMID:16429425|PMID:16435054|PMID:16436643|PMID:16436646|PMID:16442101|PMID:16443646|PMID:16454991|PMID:16478680|PMID:16481891|PMID:16484308|PMID:16488363|PMID:16493442|PMID:16499810|PMID:16572913|PMID:16596947|PMID:16617247|PMID:16635477|PMID:16678395|PMID:16678503|PMID:16714368|PMID:1673094|PMID:16741161|PMID:16778407|PMID:16778595|PMID:1678049|PMID:16784904|PMID:16786510|PMID:16801189|PMID:16822950|PMID:1682496|PMID:16837565|PMID:16840743|PMID:16915933|PMID:16931591|PMID:16938751|PMID:1695717|PMID:16963320|PMID:16980811|PMID:16989640|PMID:17003641|PMID:17015492|PMID:17020467|PMID:17020473|PMID:17035430|PMID:17043152|PMID:17048214|PMID:17062471|PMID:17076271|PMID:17095337|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:1710600|PMID:1712898|PMID:1712984|PMID:17137500|PMID:1715308|PMID:1716180|PMID:17172597|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1722350|PMID:1723032|PMID:1723056|PMID:17234733|PMID:17235394|PMID:17244607|PMID:17251329|PMID:17272608|PMID:17283574|PMID:17314234|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17353351|PMID:17378246|PMID:17380060|PMID:17398169|PMID:17407485|PMID:17407489|PMID:17413420|PMID:17440499|PMID:17448246|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17507277|PMID:17516627|PMID:17525091|PMID:17539902|PMID:17560176|PMID:1756602|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17580535|PMID:17582383|PMID:17591940|PMID:17594397|PMID:17594398|PMID:17617039|PMID:17660831|PMID:17662673|PMID:17663888|PMID:17673962|PMID:17678620|PMID:17681820|PMID:17692578|PMID:17716958|PMID:17718859|PMID:17719933|PMID:17823699|PMID:17825628|PMID:17850636|PMID:17890437|PMID:17901983|PMID:17949679|PMID:17968991|PMID:17968998|PMID:17975025|PMID:17981921|PMID:18078365|PMID:18178635|PMID:18180206|PMID:18193900|PMID:18195584|PMID:18227622|PMID:18230692|PMID:18234567|PMID:18279436|PMID:18292811|PMID:18301294|PMID:18304229|PMID:18305154|PMID:18306312|PMID:18344710|PMID:18350634|PMID:18373402|PMID:18394117|PMID:18414213|PMID:18421494 11733191 CFTR CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis PMID:18449561|PMID:18455968|PMID:18456578|PMID:18467194|PMID:18493878|PMID:18497194|PMID:18499536|PMID:18500736|PMID:18501000|PMID:18507830|PMID:18556774|PMID:18567645|PMID:18597042|PMID:18639722|PMID:1867536|PMID:18676185|PMID:18683213|PMID:18685558|PMID:18687795|PMID:18703181|PMID:18703788|PMID:18716917|PMID:18766277|PMID:18769034|PMID:18778819|PMID:18782298|PMID:18796364|PMID:18832460|PMID:18937943|PMID:18951463|PMID:18955805|PMID:19014055|PMID:19014821|PMID:19017867|PMID:19019741|PMID:19019984|PMID:1903761|PMID:19092437|PMID:19092444|PMID:19139070|PMID:19166122|PMID:19176844|PMID:19181743|PMID:19181854|PMID:19202204|PMID:19212293|PMID:19227414|PMID:19236881|PMID:19265749|PMID:19307599|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19332488|PMID:19339519|PMID:19359437|PMID:19359498|PMID:19369536|PMID:19372188|PMID:1937486|PMID:19381710|PMID:19383231|PMID:19406970|PMID:1944451|PMID:19445912|PMID:19447078|PMID:19457724|PMID:19459534|PMID:19481507|PMID:19491324|PMID:19540513|PMID:19550280|PMID:19587087|PMID:19625452|PMID:19625487|PMID:19645745|PMID:19652440|PMID:19707853|PMID:19710401|PMID:19715466|PMID:19724303|PMID:19734129|PMID:19734299|PMID:19759008|PMID:19763152|PMID:1977306|PMID:19774621|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19843100|PMID:19845690|PMID:19846789|PMID:19858235|PMID:19878303|PMID:19880712|PMID:19883345|PMID:19885835|PMID:19893581|PMID:19897426|PMID:1990834|PMID:19910374|PMID:19910674|PMID:19914431|PMID:19914443|PMID:19925455|PMID:1997384|PMID:1998343|PMID:1999830|PMID:20021716|PMID:20031113|PMID:20052365|PMID:20052366|PMID:20052766|PMID:20059485|PMID:20100616|PMID:20110398|PMID:20116881|PMID:20144563|PMID:20150177|PMID:20163773|PMID:20167849|PMID:20186691|PMID:20190016|PMID:20217271|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20301773|PMID:20307669|PMID:20332619|PMID:20351098|PMID:20351101|PMID:20381036|PMID:20416310|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20460947|PMID:20510657|PMID:20512161|PMID:20522854|PMID:20538955|PMID:20551307|PMID:20551465|PMID:20558957|PMID:20560922|PMID:20562583|PMID:20571109|PMID:20580320|PMID:20595578|PMID:20616359|PMID:20619026|PMID:20622033|PMID:20627915|PMID:20628052|PMID:20639189|PMID:20651897|PMID:20653504|PMID:20657600|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20714932|PMID:20717170|PMID:20722470|PMID:20797923|PMID:20799350|PMID:20837875|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20875776|PMID:20879059|PMID:20880762|PMID:20920895|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20949073|PMID:20952391|PMID:20972246|PMID:20976528|PMID:20977904|PMID:20981092|PMID:21059651|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21198395|PMID:21228398|PMID:21254931|PMID:21296036|PMID:21317048|PMID:2135388|PMID:21354377|PMID:21388895|PMID:21411740|PMID:21416780|PMID:21429822|PMID:21449922|PMID:21455600|PMID:21474639|PMID:21483833|PMID:21486785|PMID:21499205|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21521896|PMID:21538969|PMID:21576373|PMID:21594800|PMID:21636331|PMID:21642448|PMID:21658649|PMID:21679131|PMID:21708286|PMID:21716075|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21804385|PMID:21811577|PMID:21837768|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21917531|PMID:21931512|PMID:21948798|PMID:21965669|PMID:21976147|PMID:21983161|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22052625|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22119790|PMID:22137130|PMID:22138447|PMID:22138491|PMID:22148899|PMID:22156145|PMID:22160394|PMID:22191729|PMID:22194755|PMID:2220803|PMID:22210114|PMID:22271776|PMID:22274833|PMID:22293084|PMID:22299590|PMID:22300503|PMID:22310382|PMID:22318583|PMID:22324837|PMID:22326559|PMID:22327961|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22362925|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22395041 11733191 CFTR CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis PMID:22406018|PMID:22423042|PMID:22427236|PMID:22438829|PMID:22439019|PMID:22442927|PMID:22449949|PMID:22468138|PMID:22483971|PMID:22490504|PMID:22504961|PMID:22545782|PMID:22550062|PMID:22569626|PMID:22572128|PMID:22572733|PMID:22573477|PMID:22591852|PMID:22608296|PMID:22612315|PMID:22627569|PMID:22658665|PMID:22664493|PMID:2267887|PMID:22678879|PMID:22680785|PMID:22698459|PMID:22722932|PMID:22724884|PMID:22768251|PMID:22842702|PMID:22859523|PMID:22874010|PMID:22892530|PMID:22896710|PMID:22942289|PMID:22950544|PMID:22973227|PMID:22975760|PMID:22981120|PMID:22981294|PMID:22992393|PMID:22992668|PMID:22995991|PMID:22999299|PMID:23000902|PMID:2300168|PMID:23017188|PMID:23027855|PMID:23055971|PMID:23065710|PMID:23067305|PMID:23076339|PMID:23082198|PMID:23083715|PMID:23089694|PMID:23092102|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23240968|PMID:23248597|PMID:23261175|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23343000|PMID:23349053|PMID:23361109|PMID:23378595|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23401342|PMID:23405520|PMID:23420618|PMID:23430892|PMID:23436935|PMID:2344617|PMID:23466340|PMID:23470247|PMID:23483918|PMID:2349952|PMID:23503723|PMID:23514810|PMID:23523379|PMID:23554779|PMID:23555973|PMID:23587593|PMID:23590265|PMID:23612672|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23688510|PMID:23709221|PMID:23712087|PMID:23716676|PMID:23721890|PMID:23727931|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23758905|PMID:23765052|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23790242|PMID:23791427|PMID:23810505|PMID:238191399|PMID:23820649|PMID:23837941|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23890012|PMID:23890029|PMID:23891399|PMID:23907436|PMID:23924900|PMID:23933162|PMID:2395135|PMID:23951356|PMID:23953609|PMID:23955087|PMID:2397487|PMID:23974870|PMID:24019231|PMID:24022636|PMID:24033266|PMID:24058550|PMID:24066763|PMID:24081349|PMID:24082139|PMID:24106596|PMID:24129438|PMID:24204751|PMID:24225052|PMID:24243928|PMID:24269240|PMID:24272871|PMID:24326373|PMID:24375076|PMID:24388274|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24419263|PMID:24433235|PMID:24434749|PMID:24435787|PMID:24440180|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24513262|PMID:24517344|PMID:24525081|PMID:24551851|PMID:24556927|PMID:24559724|PMID:24561283|PMID:24586523|PMID:24624459|PMID:24631642|PMID:24633926|PMID:24649380|PMID:24671311|PMID:24687356|PMID:24696795|PMID:24697796|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24777605|PMID:24784896|PMID:24813944|PMID:24816901|PMID:24958810|PMID:24973281|PMID:25016221|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25077647|PMID:25087612|PMID:25093022|PMID:25097766|PMID:25122143|PMID:25133958|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25176415|PMID:25192979|PMID:25203624|PMID:25251442|PMID:25266159|PMID:25266997|PMID:25274949|PMID:25277268|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25311995|PMID:25326635|PMID:25330774|PMID:25333069|PMID:25346962|PMID:25363320|PMID:25383785|PMID:25403292|PMID:25404111|PMID:25443471|PMID:25452595|PMID:25459562|PMID:25473543|PMID:25481366|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25536748|PMID:25553309|PMID:25556971|PMID:25569187|PMID:25569440|PMID:25580864|PMID:25583415|PMID:25593612|PMID:25608981|PMID:25636364|PMID:25640679|PMID:2565038|PMID:25651269|PMID:25658530|PMID:25667564|PMID:25674778|PMID:25682022|PMID:25688174|PMID:25697318|PMID:25697321|PMID:25698453|PMID:25704068|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25739099|PMID:25741868|PMID:25741869|PMID:25754095|PMID:25755212|PMID:25763566|PMID:25781545|PMID:25797027|PMID:25799511|PMID:25824381|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25887396|PMID:25892339|PMID:25898554|PMID:25900089|PMID:25905921|PMID:25910067|PMID:25922769|PMID:25940043|PMID:25956447|PMID:25963003|PMID:25981758|PMID:26003066|PMID:26003067|PMID:26006199 11733191 CFTR CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis PMID:26014425|PMID:26038974|PMID:26070913|PMID:26075213|PMID:26075876|PMID:26087173|PMID:26087176|PMID:26089335|PMID:26095523|PMID:26096753|PMID:26098992|PMID:26100556|PMID:26135562|PMID:26146130|PMID:26149808|PMID:26160248|PMID:26182300|PMID:26199320|PMID:26208274|PMID:26214305|PMID:26229102|PMID:26277102|PMID:26293390|PMID:26324139|PMID:26334177|PMID:26335950|PMID:26348465|PMID:26354092|PMID:26358851|PMID:26364555|PMID:26385858|PMID:26399542|PMID:26429520|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26494713|PMID:26496611|PMID:26500004|PMID:26526220|PMID:26538069|PMID:26540286|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26651825|PMID:26656651|PMID:26671754|PMID:26684250|PMID:26708955|PMID:26730394|PMID:26755536|PMID:26761715|PMID:26795017|PMID:26800689|PMID:26814065|PMID:26823392|PMID:26826884|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26856995|PMID:26864378|PMID:26888287|PMID:26898888|PMID:26900683|PMID:26905352|PMID:26911355|PMID:26946416|PMID:26948992|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27026144|PMID:27049043|PMID:27081564|PMID:27086061|PMID:27131402|PMID:27143075|PMID:27145507|PMID:27157324|PMID:27158673|PMID:27160424|PMID:27171515|PMID:27174726|PMID:27175795|PMID:27182737|PMID:27185048|PMID:27195969|PMID:27209008|PMID:27214204|PMID:27222777|PMID:27240813|PMID:27261451|PMID:27264265|PMID:27287722|PMID:27298017|PMID:27311679|PMID:27324553|PMID:27334259|PMID:27340661|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27488443|PMID:27533158|PMID:27535533|PMID:27555793|PMID:27577878|PMID:27578509|PMID:27625827|PMID:27659740|PMID:27660821|PMID:27662103|PMID:27665964|PMID:27673710|PMID:27706244|PMID:27707539|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27787503|PMID:27805836|PMID:27806795|PMID:27812499|PMID:27837951|PMID:27870577|PMID:27884173|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28003367|PMID:28027573|PMID:28040058|PMID:28068001|PMID:28116329|PMID:28129809|PMID:28129813|PMID:28152038|PMID:28163942|PMID:28174639|PMID:28185838|PMID:28194692|PMID:28196530|PMID:28242630|PMID:28261631|PMID:28325531|PMID:28332257|PMID:28340353|PMID:28348582|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28422754|PMID:28440306|PMID:28448979|PMID:28456595|PMID:28465863|PMID:28469871|PMID:28471435|PMID:28475858|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28575328|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28655774|PMID:28687971|PMID:28711222|PMID:28736296|PMID:28771972|PMID:28784578|PMID:28785019|PMID:28800122|PMID:28801929|PMID:28805948|PMID:28811149|PMID:28830496|PMID:28863137|PMID:28930490|PMID:28947035|PMID:28957316|PMID:28968805|PMID:28978796|PMID:28992757|PMID:29035608|PMID:29055982|PMID:29095814|PMID:29099333|PMID:29099344|PMID:29113966|PMID:29124052|PMID:29126871|PMID:29133775|PMID:2915972|PMID:29168366|PMID:29173301|PMID:29174009|PMID:29178639|PMID:29202459|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29279204|PMID:29292091|PMID:29298718|PMID:29307731|PMID:29327948|PMID:29351449|PMID:29360847|PMID:29431110|PMID:29451946|PMID:29475947|PMID:29484681|PMID:29497617|PMID:29503250|PMID:29504914|PMID:29520692|PMID:29569753|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29685811|PMID:29727070|PMID:29750258|PMID:29754320|PMID:29779145|PMID:29782810|PMID:29805046|PMID:29807875|PMID:29812963|PMID:29850441|PMID:29859674|PMID:29879995|PMID:29886024|PMID:29936070|PMID:29944384|PMID:29951967|PMID:29970830|PMID:29983195|PMID:29995784|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30032850|PMID:30046002|PMID:30081288|PMID:30089726|PMID:30091983|PMID:30134826|PMID:30146269|PMID:30230364|PMID:30232781|PMID:30233781|PMID:30244528|PMID:30279124|PMID:30293248|PMID:30296588|PMID:30348612|PMID:30366773|PMID:30374031 11733191 CFTR CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis PMID:30379828|PMID:30389601|PMID:30419605|PMID:30420730|PMID:30444886|PMID:30450785|PMID:30459277|PMID:30487145|PMID:30488522|PMID:30509709|PMID:30540547|PMID:30548586|PMID:30558651|PMID:30561903|PMID:30588852|PMID:30592194|PMID:30595473|PMID:30600261|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30617673|PMID:30661751|PMID:30698611|PMID:30726326|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30805437|PMID:30805499|PMID:30811104|PMID:30845638|PMID:30851139|PMID:30873022|PMID:30888834|PMID:30930780|PMID:30938940|PMID:30979466|PMID:30979683|PMID:30992994|PMID:30993151|PMID:30996306|PMID:31005549|PMID:31016917|PMID:31019283|PMID:31028937|PMID:31029283|PMID:31036917|PMID:31088717|PMID:31118044|PMID:31126253|PMID:31127727|PMID:31130284|PMID:31131953|PMID:31136843|PMID:31159747|PMID:31180159|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31268981|PMID:31310009|PMID:31311920|PMID:31328366|PMID:31331863|PMID:31350925|PMID:31357024|PMID:31377750|PMID:31378749|PMID:31420175|PMID:31423445|PMID:31447099|PMID:31450232|PMID:31488014|PMID:31508243|PMID:31523618|PMID:31561038|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31697873|PMID:31709488|PMID:31759907|PMID:31776420|PMID:31788264|PMID:31788424|PMID:31808782|PMID:31844968|PMID:31845523|PMID:31848897|PMID:31872980|PMID:31882543|PMID:31883651|PMID:31893350|PMID:31916691|PMID:31940241|PMID:31978131|PMID:31980526|PMID:31990467|PMID:31992191|PMID:32003094|PMID:32003480|PMID:32017858|PMID:32020786|PMID:32025909|PMID:32026723|PMID:32084388|PMID:32113160|PMID:32126153|PMID:32143663|PMID:32150665|PMID:32155011|PMID:32172930|PMID:32185651|PMID:32204475|PMID:32227567|PMID:32244302|PMID:32256364|PMID:32281737|PMID:32292813|PMID:32352720|PMID:32357917|PMID:32387800|PMID:32414100|PMID:32429104|PMID:32442342|PMID:32483343|PMID:32484936|PMID:32512765|PMID:32539862|PMID:32563932|PMID:32596391|PMID:32630227|PMID:32662942|PMID:32674983|PMID:32687833|PMID:32719396|PMID:32730979|PMID:32734384|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32848127|PMID:32906206|PMID:32926152|PMID:32934006|PMID:32935393|PMID:32992607|PMID:33020115|PMID:33083013|PMID:33085659|PMID:33097431|PMID:33118704|PMID:33138251|PMID:33138774|PMID:33144682|PMID:33160331|PMID:33195651|PMID:33260873|PMID:33270637|PMID:33278322|PMID:33296276|PMID:33322690|PMID:33341408|PMID:33348555|PMID:33365035|PMID:33374015|PMID:33375403|PMID:33393655|PMID:33424627|PMID:33468668|PMID:33495079|PMID:33502066|PMID:33504063|PMID:33567498|PMID:33572515|PMID:33577586|PMID:33613790|PMID:33663443|PMID:33686728|PMID:33713579|PMID:33747920|PMID:33768849|PMID:33807078|PMID:33836782|PMID:33919435|PMID:33922413|PMID:33946859|PMID:33972190|PMID:34071719|PMID:34086412|PMID:34086689|PMID:34099697|PMID:34134972|PMID:34145097|PMID:34196078|PMID:34276759|PMID:34350279|PMID:34377682|PMID:34405919|PMID:34415821|PMID:34426522|PMID:34525262|PMID:34583889|PMID:34680554|PMID:34714360|PMID:34782259|PMID:34888852|PMID:34931337|PMID:34949556|PMID:34964109|PMID:34973142|PMID:34974990|PMID:34995514|PMID:34996830|PMID:34998674|PMID:35011616|PMID:35096544|PMID:35109852|PMID:35273129|PMID:35313924|PMID:35365085|PMID:35387941|PMID:35418593|PMID:35527187|PMID:35585144|PMID:35626323|PMID:35698092|PMID:35913788|PMID:36174992|PMID:36567205|PMID:3716676|PMID:5371902|PMID:63921865|PMID:6963320|PMID:7472820|PMID:7475569|PMID:7477025|PMID:7493947|PMID:7504969|PMID:7504970|PMID:7505689|PMID:7505690|PMID:7505693|PMID:7505694|PMID:7505767|PMID:7506096|PMID:7506605|PMID:7508183|PMID:7508414|PMID:7509231|PMID:7509310|PMID:7509683|PMID:7509684|PMID:7509685|PMID:7512860|PMID:7512993|PMID:7513292|PMID:7513293|PMID:7513294|PMID:7513889|PMID:7515303|PMID:7516232|PMID:7516233|PMID:7516234|PMID:7516305|PMID:7517264|PMID:7517267|PMID:7517268|PMID:7518409|PMID:7518829|PMID:7519167|PMID:7520022|PMID:7520798|PMID:7520799|PMID:7521710|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7524909|PMID:7524910 11733191 CFTR CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis PMID:7524913|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7526927|PMID:7526928|PMID:7526929|PMID:7527269|PMID:7529319|PMID:7529962|PMID:7530553|PMID:7530719|PMID:7531541|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7538127|PMID:7539080|PMID:7539210|PMID:7539342|PMID:754013|PMID:7540133|PMID:7540587|PMID:7541273|PMID:7541274|PMID:7541510|PMID:7542223|PMID:7542778|PMID:7543317|PMID:7543385|PMID:7543567|PMID:7544319|PMID:7544320|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550227|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581390|PMID:7581407|PMID:7586569|PMID:7599637|PMID:7606851|PMID:7668304|PMID:7679367|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7682196|PMID:7682884|PMID:7682896|PMID:7682984|PMID:7683628|PMID:7683952|PMID:7683954|PMID:7684641|PMID:7684643|PMID:7684644|PMID:7684646|PMID:7686336|PMID:7686423|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7689897|PMID:7689898|PMID:7689902|PMID:7691344|PMID:7691345|PMID:7691352|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7694298|PMID:7723568|PMID:7739684|PMID:7757078|PMID:7789957|PMID:7868128|PMID:7881429|PMID:8081395|PMID:8092189|PMID:8097485|PMID:8100293|PMID:8163293|PMID:8213163|PMID:8262525|PMID:8343799|PMID:8406518|PMID:8421472|PMID:8445619|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8530001|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8563237|PMID:8605891|PMID:8627844|PMID:8644755|PMID:8659542|PMID:8662892|PMID:8663008|PMID:8680406|PMID:8680407|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8723693|PMID:8723694|PMID:8723695|PMID:8740923|PMID:8741733|PMID:8818956|PMID:8825494|PMID:8825927|PMID:8829633|PMID:8829643|PMID:8834261|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8865181|PMID:8880589|PMID:8880910|PMID:8886242|PMID:8889582|PMID:8910333|PMID:8922636|PMID:8947061|PMID:8956039|PMID:8968585|PMID:8992448|PMID:9003498|PMID:9003508|PMID:9017943|PMID:9039981|PMID:9043501|PMID:9043706|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9084934|PMID:9099843|PMID:9101293|PMID:9101301|PMID:9108869|PMID:9135274|PMID:9150159|PMID:9150843|PMID:9163660|PMID:9164051|PMID:9222768|PMID:9235853|PMID:9239681|PMID:9252549|PMID:9254853|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9298826|PMID:9305991|PMID:9321772|PMID:9345100|PMID:9374552|PMID:9375855|PMID:9379898|PMID:9383031|PMID:9401006|PMID:9401110|PMID:9417117|PMID:9429141|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9452054|PMID:9452112|PMID:9459003|PMID:9459534|PMID:9482579|PMID:9493456|PMID:9499426|PMID:9507391|PMID:9512029|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9550362|PMID:9554753|PMID:9557894|PMID:9598638|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9678705|PMID:9683582|PMID:9691989|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9797105|PMID:9799593|PMID:9804160|PMID:9806422|PMID:9822639|PMID:9842999|PMID:9849891|PMID:9853928|PMID:9881185|PMID:9895335|PMID:9915972|PMID:9917439|PMID:9920885|PMID:9921909|PMID:9922378|PMID:9950364|PMID:9950763 11733191 CFTR CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis disease_progression ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:mutations:multiple PMID:17099022|REF_RGD_ID:4140392 11733191 CFTR CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis no_association ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:mutation:exon:p.R117H(human) PMID:19880712|REF_RGD_ID:4140393 11733191 CFTR CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis severity ISO RGD:619566 D RGD:9068941 20200609 RGD DNA,protein:mutations,substitutions:exon: PMID:2344617|REF_RGD_ID:4140394 11733191 CFTR CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis severity ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:insertion:exon:c.3904_3905insT (human) PMID:9254853|REF_RGD_ID:4140401 11733191 CFTR CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis severity ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.W1282X(human) PMID:1370365|REF_RGD_ID:4140436 11733191 CFTR CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis severity ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.F508C, S1251N PMID:1284535|REF_RGD_ID:4140438 11733191 CFTR CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis severity ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:nonsense mutation:cds;c. 2143delT (human) PMID:1283149|REF_RGD_ID:4140439 11733191 CFTR CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis severity ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:splice-site mutation:intron: 3272-26A>G (human) PMID:11732487|REF_RGD_ID:4140450 11733191 CFTR CF transmembrane conductance regulator gene DOID:1724 duodenal ulcer ISO RGD:2332 D RGD:9068941 20200609 RGD PMID:15905414|REF_RGD_ID:1599596 11733191 CFTR CF transmembrane conductance regulator gene DOID:1793 pancreatic cancer no_association ISO RGD:619566 D RGD:9068941 20200609 RGD PMID:17072959|REF_RGD_ID:2317157 11733191 CFTR CF transmembrane conductance regulator gene DOID:1793 pancreatic cancer onset ISO RGD:619566 D RGD:9068941 20200609 RGD PMID:16227367|REF_RGD_ID:2317156 11733191 CFTR CF transmembrane conductance regulator gene DOID:2841 asthma susceptibility ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:deletion: :p.F508del(human) PMID:20298391|REF_RGD_ID:4140387 11733191 CFTR CF transmembrane conductance regulator gene DOID:303 substance-related disorder ISO RGD:619566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11733191 CFTR CF transmembrane conductance regulator gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.M470V(human) PMID:18652532|REF_RGD_ID:4140431 11733191 CFTR CF transmembrane conductance regulator gene DOID:3225 tracheal disease ISO RGD:10331 D RGD:9068941 20200609 RGD DNA:deletion,mutation: : PMID:18450781|REF_RGD_ID:4140433 11733191 CFTR CF transmembrane conductance regulator gene DOID:4450 renal cell carcinoma ISO RGD:619566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:28492532 11733191 CFTR CF transmembrane conductance regulator gene DOID:4483 rhinitis ISO RGD:619566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16083808 11733191 CFTR CF transmembrane conductance regulator gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:619566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11733191 CFTR CF transmembrane conductance regulator gene DOID:4988 alcoholic pancreatitis ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.L1156F, Q1352H (human) PMID:26089335|REF_RGD_ID:11566036 11733191 CFTR CF transmembrane conductance regulator gene DOID:4989 pancreatitis ISO RGD:619566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pancreatitis | ClinVar Annotator: match by term: Recurrent pancreatitis PMID:10103316|PMID:10425036|PMID:10601093|PMID:10782933|PMID:10801389|PMID:10869121|PMID:10875853|PMID:10950058|PMID:10963013|PMID:11168024|PMID:11186891|PMID:11280952|PMID:11354633|PMID:11547256|PMID:11733566|PMID:11924117|PMID:12014388|PMID:12127423|PMID:12400067|PMID:12759680|PMID:1370875|PMID:1377276|PMID:1379210|PMID:1379413|PMID:1380673|PMID:1381146|PMID:1384321|PMID:14618962|PMID:15097853|PMID:15141088|PMID:15151509|PMID:15246977|PMID:1536179|PMID:15367919|PMID:15371902|PMID:15463907|PMID:15482777|PMID:15640323|PMID:15857421|PMID:15905293|PMID:16075239|PMID:16283887|PMID:16478680|PMID:1673094|PMID:17003641|PMID:17035430|PMID:17048214|PMID:1715308|PMID:17175965|PMID:17206681|PMID:1723032|PMID:1756602|PMID:17572159|PMID:17594397|PMID:17681820|PMID:17692578|PMID:18178635|PMID:18180206|PMID:18234567|PMID:18394117|PMID:18456578|PMID:18501000|PMID:18507830|PMID:18796364|PMID:19176844|PMID:19227414|PMID:19318346|PMID:19459534|PMID:19837664|PMID:19878303|PMID:19885835|PMID:19925455|PMID:1997384|PMID:20021716|PMID:20116881|PMID:20301295|PMID:20301428|PMID:20460946|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20667826|PMID:20687163|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20837875|PMID:20977904|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21228398|PMID:21411740|PMID:21486785|PMID:21520337|PMID:21594800|PMID:21658649|PMID:21804385|PMID:21907281|PMID:21965669|PMID:21976147|PMID:21983488|PMID:22020151|PMID:2210767|PMID:2220803|PMID:22332135|PMID:2233932|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22427236|PMID:22449949|PMID:22569626|PMID:22591852|PMID:22658665|PMID:22680785|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22999299|PMID:2300168|PMID:23067305|PMID:23104983|PMID:23168765|PMID:23361109|PMID:23378603|PMID:23379606|PMID:23436935|PMID:23613805|PMID:23656801|PMID:23721890|PMID:23751316|PMID:23781395|PMID:2378364|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23951356|PMID:23974870|PMID:24033266|PMID:24375076|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24451227|PMID:24559724|PMID:24696795|PMID:24727426|PMID:2475911|PMID:24958810|PMID:24973281|PMID:25033378|PMID:25042876|PMID:25148434|PMID:25330774|PMID:25608981|PMID:25636364|PMID:25697321|PMID:2570460|PMID:25741868|PMID:25741869|PMID:25763566|PMID:25797027|PMID:25824995|PMID:25910067|PMID:25981758|PMID:26006199|PMID:26095523|PMID:26149808|PMID:26436105|PMID:26467025|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26648081|PMID:26708955|PMID:26800689|PMID:26911355|PMID:26976279|PMID:26989879|PMID:27171515|PMID:27298017|PMID:27334259|PMID:27469177|PMID:27577878|PMID:27660821|PMID:27673710|PMID:27738188|PMID:27787503|PMID:27805836|PMID:27898234|PMID:28129809|PMID:28325531|PMID:28492530|PMID:28492532|PMID:28603918|PMID:28606620|PMID:28617084|PMID:28930490|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29261177|PMID:29292091|PMID:29327948|PMID:29431110|PMID:29451946|PMID:29589582|PMID:29614238|PMID:29668297|PMID:29754320|PMID:29779145|PMID:29805046|PMID:29944384|PMID:30030066|PMID:30089726|PMID:30230364|PMID:30279124|PMID:30487145|PMID:30600599|PMID:30602999|PMID:30609409|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31310009|PMID:31350925|PMID:31447099|PMID:31523618|PMID:31589614|PMID:31788424|PMID:31980526|PMID:31990467|PMID:32429104|PMID:32761997|PMID:33083013|PMID:33118704|PMID:33144682|PMID:33270637|PMID:33365035|PMID:33375403|PMID:33468668|PMID:33572515|PMID:33713579|PMID:34405919|PMID:34426522|PMID:7517267|PMID:7533604|PMID:7537148|PMID:7540133|PMID:7560099|PMID:7691813|PMID:7789957|PMID:8092189|PMID:8605891|PMID:8659542|PMID:8740923|PMID:8844211|PMID:8886242|PMID:9135274|PMID:9235853|PMID:9272157|PMID:9272738|PMID:9439669|PMID:9493456|PMID:9618063|PMID:9921909 11733191 CFTR CF transmembrane conductance regulator gene DOID:5223 infertility ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Infertility PMID:10439967|PMID:10801389|PMID:10869121|PMID:10875853|PMID:10970190|PMID:11025834|PMID:11168024|PMID:11303517|PMID:11354633|PMID:11845002|PMID:11883825|PMID:11938439|PMID:12014388|PMID:12127423|PMID:12167682|PMID:12454843|PMID:12752573|PMID:1284535|PMID:1379210|PMID:1384326|PMID:15097853|PMID:15463907|PMID:15537723|PMID:15619635|PMID:15727251|PMID:15857421|PMID:15858154|PMID:16134171|PMID:16193325|PMID:16484308|PMID:17003641|PMID:17489851|PMID:17572159|PMID:17594397|PMID:17681820|PMID:18178635|PMID:18195584|PMID:18501000|PMID:18687795|PMID:19092444|PMID:19587087|PMID:1977306|PMID:20021716|PMID:20460946|PMID:20706124|PMID:20837875|PMID:20932301|PMID:21184098|PMID:21198395|PMID:21499205|PMID:21520337|PMID:21658649|PMID:21804385|PMID:22020151|PMID:22271776|PMID:22427236|PMID:22658665|PMID:22678879|PMID:22975760|PMID:23613805|PMID:23716676|PMID:23721890|PMID:23791427|PMID:23846440|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24033266|PMID:24418186|PMID:24451227|PMID:24586523|PMID:24631642|PMID:25033378|PMID:25287046|PMID:25346962|PMID:25741868|PMID:25797027|PMID:25824995|PMID:25910067|PMID:25963003|PMID:26436105|PMID:26467025|PMID:26538069|PMID:26708955|PMID:26898888|PMID:26900683|PMID:26911355|PMID:27171515|PMID:27214204|PMID:27738188|PMID:27787503|PMID:28129809|PMID:28492532|PMID:28544683|PMID:28603918|PMID:28830496|PMID:29589582|PMID:29805046|PMID:30488522|PMID:31088717|PMID:31488014|PMID:31916691|PMID:31990467|PMID:32784480|PMID:33572515|PMID:33768849|PMID:33946859|PMID:34995514|PMID:34996830|PMID:7508183|PMID:7513293|PMID:7517264|PMID:7525963|PMID:7543317|PMID:7682884|PMID:7686336|PMID:7691344|PMID:8605891|PMID:8644755|PMID:9108869|PMID:9272157|PMID:9439669|PMID:9804160|PMID:9921909 11733191 CFTR CF transmembrane conductance regulator gene DOID:5419 schizophrenia ISO RGD:619566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11733191 CFTR CF transmembrane conductance regulator gene DOID:5733 salpingitis ISO RGD:10331 D RGD:9068941 20200609 RGD PMID:19012687|REF_RGD_ID:11566047 11733191 CFTR CF transmembrane conductance regulator gene DOID:5733 salpingitis ISO RGD:619566 D RGD:9068941 20200609 RGD PMID:19012687|REF_RGD_ID:11566047 11733191 CFTR CF transmembrane conductance regulator gene DOID:5733 salpingitis treatment ISO RGD:2332 D RGD:9068941 20200609 RGD PMID:19012687|REF_RGD_ID:11566047 11733191 CFTR CF transmembrane conductance regulator gene DOID:5844 myocardial infarction ISO RGD:10331 D RGD:9068941 20200609 RGD associated with Myocardial Reperfusion Injury PMID:23221371|REF_RGD_ID:11566046 11733191 CFTR CF transmembrane conductance regulator gene DOID:630 genetic disease ISO RGD:619566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10103316|PMID:10200050|PMID:10376575|PMID:10425036|PMID:10556281|PMID:10639207|PMID:10668931|PMID:10782933|PMID:10875853|PMID:10923036|PMID:10950058|PMID:10963013|PMID:11069835|PMID:11186891|PMID:11280952|PMID:11354633|PMID:11491164|PMID:11547256|PMID:11729110|PMID:11733566|PMID:11796591|PMID:11924117|PMID:12400067|PMID:12503104|PMID:12767731|PMID:1370365|PMID:1370875|PMID:1377276|PMID:1379413|PMID:1380673|PMID:1381146|PMID:1381723|PMID:1384321|PMID:14551163|PMID:14618962|PMID:14685937|PMID:14993601|PMID:15070876|PMID:15141088|PMID:1518030|PMID:15246977|PMID:15287992|PMID:1536179|PMID:15367919|PMID:15371902|PMID:15480987|PMID:15482777|PMID:15640323|PMID:15905293|PMID:16020494|PMID:16075239|PMID:16263954|PMID:16272798|PMID:16283068|PMID:16283887|PMID:16478680|PMID:1673094|PMID:16778595|PMID:1682496|PMID:16840743|PMID:1695717|PMID:16980811|PMID:17003641|PMID:17035430|PMID:17048214|PMID:1715308|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1723032|PMID:17234733|PMID:17314234|PMID:17329263|PMID:17475917|PMID:17489851|PMID:1756602|PMID:17576681|PMID:17692578|PMID:18178635|PMID:18180206|PMID:18234567|PMID:18394117|PMID:18456578|PMID:18507830|PMID:18567645|PMID:18639722|PMID:18685558|PMID:18796364|PMID:19092437|PMID:19176844|PMID:19227414|PMID:19339519|PMID:19459534|PMID:19837664|PMID:19878303|PMID:19885835|PMID:19925455|PMID:1997384|PMID:20021716|PMID:20031113|PMID:20116881|PMID:20301295|PMID:20301428|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20977904|PMID:21097845|PMID:21111762|PMID:21152102|PMID:21228398|PMID:21411740|PMID:21416780|PMID:21486785|PMID:21520337|PMID:21594800|PMID:21658649|PMID:21783433|PMID:21907281|PMID:21965669|PMID:21976147|PMID:21983488|PMID:22020151|PMID:2210767|PMID:2210768|PMID:2220803|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22427236|PMID:22449949|PMID:22569626|PMID:22658665|PMID:22680785|PMID:22842702|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22999299|PMID:2300168|PMID:23067305|PMID:23104983|PMID:23168765|PMID:23276700|PMID:23361109|PMID:23378603|PMID:23379606|PMID:23436935|PMID:2344617|PMID:23656801|PMID:23751316|PMID:23781395|PMID:2378364|PMID:23810505|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23951356|PMID:23974870|PMID:24033266|PMID:24243928|PMID:24375076|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24451227|PMID:24559724|PMID:24586523|PMID:24631642|PMID:24696795|PMID:24727426|PMID:2475911|PMID:24958810|PMID:24973281|PMID:25033378|PMID:25042876|PMID:25087612|PMID:25148434|PMID:25251442|PMID:25330774|PMID:25333069|PMID:25383785|PMID:25525159|PMID:25580864|PMID:25608981|PMID:25636364|PMID:25697321|PMID:2570460|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25763566|PMID:25797027|PMID:25981758|PMID:26006199|PMID:26095523|PMID:26149808|PMID:26199320|PMID:26354092|PMID:26467025|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26648081|PMID:26800689|PMID:26911355|PMID:26976279|PMID:26989879|PMID:27026144|PMID:27171515|PMID:27298017|PMID:27334259|PMID:27447098|PMID:27469177|PMID:27577878|PMID:27660821|PMID:27673710|PMID:27707539|PMID:27738188|PMID:27805836|PMID:27895116|PMID:27898234|PMID:28129809|PMID:28152038|PMID:28325531|PMID:28475858|PMID:28492530|PMID:28492532|PMID:28603918|PMID:28606620|PMID:28617084|PMID:28930490|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29174009|PMID:29261177|PMID:29298718|PMID:29327948|PMID:29431110|PMID:29451946|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29805046|PMID:29944384|PMID:29997923|PMID:30030066|PMID:30089726|PMID:30279124|PMID:30487145|PMID:30600599|PMID:30602999|PMID:30609409|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31126253|PMID:31130284|PMID:31180159|PMID:31187952|PMID:31199594|PMID:31310009|PMID:31447099|PMID:31523618|PMID:31589614|PMID:31682332|PMID:31788424|PMID:31980526|PMID:32281737|PMID:32429104|PMID:32761997 11733191 CFTR CF transmembrane conductance regulator gene DOID:630 genetic disease ISO RGD:619566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:32773111|PMID:33083013|PMID:33118704|PMID:33144682|PMID:33270637|PMID:33322690|PMID:33365035|PMID:33713579|PMID:34196078|PMID:34426522|PMID:7506096|PMID:7517267|PMID:7520798|PMID:7525450|PMID:7533604|PMID:7537148|PMID:7540133|PMID:7545856|PMID:7560099|PMID:7573058|PMID:7684641|PMID:7684646|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7693946|PMID:7739684|PMID:7789957|PMID:8092189|PMID:8556303|PMID:8659542|PMID:8740923|PMID:8825494|PMID:8844211|PMID:8886242|PMID:9067754|PMID:9135274|PMID:9150159|PMID:9235853|PMID:9272157|PMID:9272738|PMID:9435322|PMID:9439669|PMID:9493456|PMID:9536098|PMID:9618063|PMID:9630075|PMID:9725922|PMID:9806422 11733191 CFTR CF transmembrane conductance regulator gene DOID:693 dental enamel hypoplasia ISO RGD:2332 D RGD:9068941 20210528 RGD PMID:31942562|REF_RGD_ID:126928119 11733191 CFTR CF transmembrane conductance regulator gene DOID:8469 influenza treatment ISO RGD:10331 D RGD:9068941 20200716 RGD PMID:23749967|REF_RGD_ID:35673331 11733191 CFTR CF transmembrane conductance regulator gene DOID:850 lung disease ISO RGD:619566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung disease, non-specific PMID:10445602|PMID:10653141|PMID:10653145|PMID:10875853|PMID:10922395|PMID:10950058|PMID:12127423|PMID:12454843|PMID:12719375|PMID:12940920|PMID:1379210|PMID:14872121|PMID:15151509|PMID:1545465|PMID:15463907|PMID:15536480|PMID:15705292|PMID:15858154|PMID:15987793|PMID:16049310|PMID:16128988|PMID:16189704|PMID:16251901|PMID:16339147|PMID:16741161|PMID:16915933|PMID:17035430|PMID:17098482|PMID:17098864|PMID:1710599|PMID:17235394|PMID:17329263|PMID:17331079|PMID:17413420|PMID:17489851|PMID:17662673|PMID:18193900|PMID:18306312|PMID:18456578|PMID:18716917|PMID:18951463|PMID:19812525|PMID:19910374|PMID:20021716|PMID:20167849|PMID:20460946|PMID:20538955|PMID:20706124|PMID:20977904|PMID:21131649|PMID:21520337|PMID:22427236|PMID:22678879|PMID:22995991|PMID:23420618|PMID:23751316|PMID:23781395|PMID:23846440|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24033266|PMID:24451227|PMID:24586523|PMID:24624459|PMID:25033378|PMID:25060775|PMID:25489051|PMID:25492507|PMID:25569187|PMID:25741868|PMID:25797027|PMID:25824995|PMID:25826586|PMID:25910067|PMID:26014425|PMID:26089335|PMID:26100556|PMID:26335950|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26500004|PMID:26574590|PMID:26856995|PMID:26990548|PMID:27264265|PMID:27555793|PMID:28194692|PMID:28392015|PMID:28469871|PMID:28492532|PMID:28603918|PMID:28801929|PMID:29174009|PMID:29504914|PMID:29589582|PMID:29805046|PMID:30763667|PMID:30845638|PMID:30888834|PMID:30979466|PMID:31005549|PMID:31213628|PMID:31350925|PMID:31378749|PMID:31674704|PMID:31916691|PMID:32155011|PMID:32357917|PMID:32773111|PMID:32784480|PMID:32819855|PMID:33020115|PMID:33097431|PMID:33144682|PMID:33260873|PMID:33341408|PMID:33374015|PMID:33572515|PMID:33613790|PMID:33946859|PMID:34145097|PMID:34350279|PMID:34405919|PMID:34426522|PMID:34525262|PMID:34583889|PMID:34680554|PMID:34888852|PMID:34974990|PMID:34996830|PMID:35011616|PMID:35096544|PMID:35418593|PMID:35527187|PMID:35585144|PMID:35626323|PMID:7475569|PMID:7526685|PMID:7529962|PMID:7537150|PMID:7543317|PMID:7739684|PMID:8644755|PMID:9272157|PMID:9797105|PMID:9921909 11733191 CFTR CF transmembrane conductance regulator gene DOID:850 lung disease disease_progression ISO RGD:619566 D RGD:9068941 20200609 RGD associated with cystic fibrosis; DNA:mutations: : PMID:19952026|REF_RGD_ID:4140390 11733191 CFTR CF transmembrane conductance regulator gene DOID:850 lung disease onset ISO RGD:619566 D RGD:9068941 20200609 RGD associated with cystic fibrosis; DNA:mutation:exon:p.R347P (human) PMID:8535440|REF_RGD_ID:4140448 11733191 CFTR CF transmembrane conductance regulator gene DOID:850 lung disease severity ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:missense mutation:exon: p.D1152H (human) PMID:19843100|REF_RGD_ID:4140397 11733191 CFTR CF transmembrane conductance regulator gene DOID:850 lung disease severity ISO RGD:619566 D RGD:9068941 20200609 RGD associated with cystic fibrosis; DNA:mutation: :p.A455E (human) PMID:7539891|REF_RGD_ID:4140446 11733191 CFTR CF transmembrane conductance regulator gene DOID:850 lung disease severity ISO RGD:619566 D RGD:9068941 20200609 RGD associated with cystic fibrosis;DNA:nonsense mutation: :p.R1162X (human) PMID:1381442|REF_RGD_ID:4140441 11733191 CFTR CF transmembrane conductance regulator gene DOID:899 choledochal cyst ISO RGD:619566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 11733191 CFTR CF transmembrane conductance regulator gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:10331 D RGD:9068941 20200716 RGD PMID:28289144|REF_RGD_ID:36049750 11733191 CFTR CF transmembrane conductance regulator gene DOID:9002278 Metabolic Bone Diseases ISO RGD:10331 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:deletion: :p.F508del (mouse) PMID:20570219|REF_RGD_ID:11566031 11733191 CFTR CF transmembrane conductance regulator gene DOID:9003145 Nuchal Bleb, Familial ISO RGD:619566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal cystic hygroma PMID:12815607|PMID:16199547|PMID:1695717|PMID:20059485|PMID:23974870|PMID:25741868|PMID:27240813|PMID:28492532|PMID:29879995|PMID:31036917|PMID:31131953|PMID:32357917|PMID:7683952|PMID:7691345|PMID:9239681|PMID:9725922 11733191 CFTR CF transmembrane conductance regulator gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:18703788|PMID:19858235|REF_RGD_ID:4140395|REF_RGD_ID:4140430 11733191 CFTR CF transmembrane conductance regulator gene DOID:9004729 Nontuberculous Mycobacterium Infections susceptibility ISO RGD:619566 D RGD:9068941 20200716 RGD DNA:SNP:cds:rs113857788(p.Q1352H)(human) PMID:23514810|REF_RGD_ID:36049751 11733191 CFTR CF transmembrane conductance regulator gene DOID:9005643 Experimental Diabetes Mellitus severity ISO RGD:10331 D RGD:9068941 20200609 RGD PMID:16804061|REF_RGD_ID:2314614 11733191 CFTR CF transmembrane conductance regulator gene DOID:9006190 Chronic Pancreatitis ISO RGD:619566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206817 11733191 CFTR CF transmembrane conductance regulator gene DOID:9006599 Hypertriglyceridemia ISO RGD:619566 D RGD:9068941 20200609 RGD associated with Pancreatitis;DNA:missense mutation, haplotype: :p.I556V (human) PMID:17981921|REF_RGD_ID:11566035 11733191 CFTR CF transmembrane conductance regulator gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:619566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:28492532 11733191 CFTR CF transmembrane conductance regulator gene DOID:9007417 Pseudomonas Infections ISO RGD:10331 D RGD:9068941 20200716 RGD PMID:11390493|PMID:15039325|REF_RGD_ID:36049749|REF_RGD_ID:36049752 11733191 CFTR CF transmembrane conductance regulator gene DOID:9007651 Chronic Bronchitis ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:deletion: :F508del(human) PMID:10767489|REF_RGD_ID:4140484 11733191 CFTR CF transmembrane conductance regulator gene DOID:9007651 Chronic Bronchitis susceptibility ISO RGD:619566 D RGD:9068941 20200609 RGD associated with pulmonary disease chronic obstructive; DNA:missense mutation:exon:p.R75Q(human) PMID:15463907|REF_RGD_ID:4140475 11733191 CFTR CF transmembrane conductance regulator gene DOID:9008443 Colorectal Neoplasms ISO RGD:619566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 11733191 CFTR CF transmembrane conductance regulator gene DOID:9008691 Liver Injury treatment ISO RGD:619566 D RGD:9068941 20200609 RGD associated with hyperhomocysteinemia, human gene in a mouse model PMID:29415998|REF_RGD_ID:25671444 11733191 CFTR CF transmembrane conductance regulator gene DOID:9008939 Breast Neoplasms ISO RGD:619566 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:10925568|PMID:12874665|PMID:15905293|PMID:17539902|PMID:25580864|PMID:25741868|PMID:25869325|PMID:26199320|PMID:26467025|PMID:27081564|PMID:27143075|PMID:27171515|PMID:27717243|PMID:28492532|PMID:28502372|PMID:28608624|PMID:29997923|PMID:30379828|PMID:30811104|PMID:31423445|PMID:32777524|PMID:34276759|PMID:35313924 11733191 CFTR CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:7240710 20180130 OMIM 11733191 CFTR CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:10026154|PMID:10077727|PMID:10103316|PMID:10200050|PMID:10204861|PMID:10206682|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10376575|PMID:10386624|PMID:10388469|PMID:10401194|PMID:10425036|PMID:10439967|PMID:10445602|PMID:10447267|PMID:10480369|PMID:10556281|PMID:10571949|PMID:10571955|PMID:10601093|PMID:10605524|PMID:10636451|PMID:10639207|PMID:10652351|PMID:10653141|PMID:10653145|PMID:10668931|PMID:10719683|PMID:10746558|PMID:10762539|PMID:10764788|PMID:10782933|PMID:10790222|PMID:10794365|PMID:10798368|PMID:10801389|PMID:10812063|PMID:10819640|PMID:10834512|PMID:10836331|PMID:10869121|PMID:10875853|PMID:10875876|PMID:10878476|PMID:10909845|PMID:10922395|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10970190|PMID:10980579|PMID:11001817|PMID:11005149|PMID:11025834|PMID:11055897|PMID:11069835|PMID:11101688|PMID:11137998|PMID:11168024|PMID:11180668|PMID:11186891|PMID:11242048|PMID:11278813|PMID:11280952|PMID:11303517|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11390899|PMID:11427889|PMID:11430710|PMID:11446424|PMID:11448786|PMID:11462247|PMID:11466205|PMID:11484207|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11668613|PMID:11729110|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11788091|PMID:11796434|PMID:11810271|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938439|PMID:11950844|PMID:12007216|PMID:12014388|PMID:12070257|PMID:12080183|PMID:12116247|PMID:12120234|PMID:12127423|PMID:12151438|PMID:12166651|PMID:12167682|PMID:12172395|PMID:12200467|PMID:12397022|PMID:12400067|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12578973|PMID:12624947|PMID:12658038|PMID:12719375|PMID:12732620|PMID:12752573|PMID:12759680|PMID:12767731|PMID:12815607|PMID:1283148|PMID:12843327|PMID:1284477|PMID:1284530|PMID:1284534|PMID:1284535|PMID:1284538|PMID:1284540|PMID:1284639|PMID:12865275|PMID:12874665|PMID:12919146|PMID:12938099|PMID:12940920|PMID:12952861|PMID:12955726|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1373935|PMID:1376016|PMID:1376017|PMID:1377276|PMID:1379210|PMID:1379413|PMID:1380673|PMID:1380943|PMID:1381146|PMID:1381442|PMID:1381723|PMID:1382316|PMID:1384321|PMID:1384326|PMID:1384328|PMID:14526128|PMID:14586256|PMID:14618962|PMID:14685937|PMID:14872121|PMID:14963811|PMID:14993601|PMID:14998948|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15246977|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15354332|PMID:1536179|PMID:15365999|PMID:15367919|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371907|PMID:1545465|PMID:15463840|PMID:15463866|PMID:15463888|PMID:15463907|PMID:15463919|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15504721|PMID:15520400|PMID:15536480|PMID:15614862|PMID:15619635|PMID:15638824|PMID:15640323|PMID:15645635|PMID:15681482|PMID:15698945|PMID:15698946|PMID:15705292|PMID:15716623|PMID:15738290|PMID:15744517|PMID:15744523|PMID:15758663|PMID:15772171|PMID:15775704|PMID:15776432|PMID:15784035|PMID:15829248|PMID:15857421|PMID:15858154|PMID:15905293|PMID:15948195|PMID:15987793|PMID:15994263|PMID:16020494|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16126774|PMID:16128988|PMID:16132229|PMID:16134171|PMID:16141195|PMID:16187186|PMID:16189704|PMID:16193325|PMID:16199547|PMID:16244288|PMID:16251901|PMID:16263954|PMID:16266832|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16339147|PMID:16362824|PMID:16435054|PMID:16436643|PMID:16442101|PMID:16443646|PMID:16478680|PMID:16481891|PMID:16484308|PMID:16488363|PMID:16499810|PMID:16596947|PMID:16617247|PMID:16635477|PMID:16678503|PMID:1673094|PMID:16741161|PMID:16778407|PMID:16778595|PMID:1678049|PMID:16784904|PMID:16786510|PMID:16801189|PMID:1682496|PMID:16840743|PMID:16915933|PMID:16931591|PMID:1695717|PMID:16963320|PMID:16980811|PMID:17003641|PMID:17015492|PMID:17020467|PMID:17020473|PMID:17035430 11733191 CFTR CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:17048214|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:1712898|PMID:1715308|PMID:1716180|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1722350|PMID:1723032|PMID:17235394|PMID:17272608|PMID:17314234|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17353351|PMID:17380060|PMID:17413420|PMID:17448246|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17516627|PMID:17539902|PMID:1756602|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17580535|PMID:17591940|PMID:17594397|PMID:17594398|PMID:17662673|PMID:17663888|PMID:17681820|PMID:17692578|PMID:17718859|PMID:17719933|PMID:17850636|PMID:17890437|PMID:17949679|PMID:17968991|PMID:17975025|PMID:18078365|PMID:18178635|PMID:18180206|PMID:18193900|PMID:18195584|PMID:18230692|PMID:18234567|PMID:18304229|PMID:18305154|PMID:18306312|PMID:18373402|PMID:18394117|PMID:18421494|PMID:18449561|PMID:18455968|PMID:18456578|PMID:18501000|PMID:18507830|PMID:18556774|PMID:18567645|PMID:18639722|PMID:18685558|PMID:18687795|PMID:18703181|PMID:18703788|PMID:18716917|PMID:18778819|PMID:18796364|PMID:18937943|PMID:18951463|PMID:19014821|PMID:19017867|PMID:19019741|PMID:1903761|PMID:19092437|PMID:19092444|PMID:19176844|PMID:19181854|PMID:19202204|PMID:19227414|PMID:19236881|PMID:19265749|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19359498|PMID:1937486|PMID:19383231|PMID:1944451|PMID:19459534|PMID:19491324|PMID:19550280|PMID:19625452|PMID:19652440|PMID:19710401|PMID:19734299|PMID:1977306|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19845690|PMID:19846789|PMID:19878303|PMID:19880712|PMID:19883345|PMID:19885835|PMID:19893581|PMID:19897426|PMID:19914431|PMID:19925455|PMID:1997384|PMID:1998343|PMID:1999830|PMID:20021716|PMID:20052366|PMID:20059485|PMID:20100616|PMID:20116881|PMID:20163773|PMID:20167849|PMID:20186691|PMID:20217271|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20381036|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20510657|PMID:20512161|PMID:20522854|PMID:20538955|PMID:20551465|PMID:20558957|PMID:20571109|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20651897|PMID:20657600|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20717170|PMID:20722470|PMID:20797923|PMID:20837875|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20879059|PMID:20880762|PMID:20920895|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20949073|PMID:20952391|PMID:20977904|PMID:20981092|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21198395|PMID:21228398|PMID:2135388|PMID:21388895|PMID:21411740|PMID:21416780|PMID:21429822|PMID:21486785|PMID:21499205|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21594800|PMID:21642448|PMID:21658649|PMID:21679131|PMID:21708286|PMID:21716075|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21804385|PMID:21811577|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21931512|PMID:21965669|PMID:21976147|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22138447|PMID:22148899|PMID:2220803|PMID:22210114|PMID:22271776|PMID:22293084|PMID:22299590|PMID:22318583|PMID:22324837|PMID:22326559|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22427236|PMID:22439019|PMID:22449949|PMID:22468138|PMID:22483971|PMID:22504961|PMID:22569626|PMID:22572128|PMID:22591852|PMID:22658665|PMID:22664493|PMID:2267887|PMID:22678879|PMID:22680785|PMID:22724884|PMID:22768251|PMID:22842702|PMID:22892530|PMID:22942289|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22995991|PMID:22999299|PMID:2300168|PMID:23027855|PMID:23055971|PMID:23067305|PMID:23076339|PMID:23082198|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23261175|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23343000|PMID:23361109|PMID:23378595|PMID:23378603|PMID:23379606|PMID:23381846 11733191 CFTR CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23405520|PMID:23420618|PMID:23436935|PMID:2344617|PMID:23466340|PMID:23470247|PMID:2349952|PMID:23503723|PMID:23514810|PMID:23523379|PMID:23555973|PMID:23590265|PMID:23613805|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23709221|PMID:23716676|PMID:23721890|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23810505|PMID:238191399|PMID:23837941|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23924900|PMID:2395135|PMID:23951356|PMID:2397487|PMID:23974870|PMID:24033266|PMID:24058550|PMID:24066763|PMID:24081349|PMID:24129438|PMID:24204751|PMID:24243928|PMID:24269240|PMID:24272871|PMID:24375076|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24419263|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24517344|PMID:24525081|PMID:24559724|PMID:24586523|PMID:24624459|PMID:24631642|PMID:24696795|PMID:24697796|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24784896|PMID:24813944|PMID:24958810|PMID:24973281|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25077647|PMID:25087612|PMID:25122143|PMID:25133958|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25192979|PMID:25203624|PMID:25251442|PMID:25266159|PMID:25274949|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25311995|PMID:25326635|PMID:25330774|PMID:25333069|PMID:25346962|PMID:25383785|PMID:25403292|PMID:25443471|PMID:25473543|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25569187|PMID:25580864|PMID:25583415|PMID:25608981|PMID:25636364|PMID:2565038|PMID:25651269|PMID:25667564|PMID:25674778|PMID:25682022|PMID:25697318|PMID:25697321|PMID:25698453|PMID:25704068|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25754095|PMID:25755212|PMID:25763566|PMID:25781545|PMID:25797027|PMID:25799511|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25900089|PMID:25910067|PMID:25940043|PMID:25963003|PMID:25981758|PMID:26006199|PMID:26014425|PMID:26038974|PMID:26070913|PMID:26075213|PMID:26087176|PMID:26089335|PMID:26095523|PMID:26098992|PMID:26100556|PMID:26135562|PMID:26149808|PMID:26182300|PMID:26199320|PMID:26277102|PMID:26324139|PMID:26335950|PMID:26364555|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26500004|PMID:26538069|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26656651|PMID:26671754|PMID:26708955|PMID:26755536|PMID:26795017|PMID:26800689|PMID:26823392|PMID:26846474|PMID:26847993|PMID:26856995|PMID:26888287|PMID:26898888|PMID:26900683|PMID:26911355|PMID:26946416|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27081564|PMID:27086061|PMID:27143075|PMID:27158673|PMID:27171515|PMID:27214204|PMID:27222777|PMID:27264265|PMID:27298017|PMID:27324553|PMID:27334259|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27535533|PMID:27555793|PMID:27577878|PMID:27578509|PMID:27625827|PMID:27660821|PMID:27665964|PMID:27673710|PMID:27707539|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27787503|PMID:27805836|PMID:27812499|PMID:27884173|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28027573|PMID:28040058|PMID:28129809|PMID:28194692|PMID:28261631|PMID:28325531|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28422754|PMID:28456595|PMID:28465863|PMID:28469871|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28655774|PMID:28711222|PMID:28736296|PMID:28784578|PMID:28801929|PMID:28830496|PMID:28863137|PMID:28930490|PMID:28947035|PMID:28968805|PMID:28978796|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29133775|PMID:29168366|PMID:29173301|PMID:29174009|PMID:29178639|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29292091|PMID:29298718|PMID:29327948|PMID:29360847|PMID:29431110|PMID:29451946 11733191 CFTR CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:29484681|PMID:29504914|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29727070|PMID:29754320|PMID:29779145|PMID:29805046|PMID:29807875|PMID:29859674|PMID:29936070|PMID:29944384|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30032850|PMID:30046002|PMID:30089726|PMID:30134826|PMID:30230364|PMID:30232781|PMID:30233781|PMID:30244528|PMID:30279124|PMID:30379828|PMID:30420730|PMID:30444886|PMID:30450785|PMID:30487145|PMID:30488522|PMID:30540547|PMID:30548586|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30698611|PMID:30758641|PMID:30763667|PMID:30805437|PMID:30811104|PMID:30845638|PMID:30873022|PMID:30888834|PMID:30938940|PMID:30979466|PMID:30992994|PMID:30996306|PMID:31005549|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31088717|PMID:31118044|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31310009|PMID:31331863|PMID:31350925|PMID:31378749|PMID:31423445|PMID:31447099|PMID:31450232|PMID:31508243|PMID:31523618|PMID:31589614|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31759907|PMID:31788424|PMID:31808782|PMID:31844968|PMID:31845523|PMID:31848897|PMID:31872980|PMID:31883651|PMID:31916691|PMID:31940241|PMID:31978131|PMID:31980526|PMID:31990467|PMID:31992191|PMID:32025909|PMID:32113160|PMID:32143663|PMID:32150665|PMID:32155011|PMID:32172930|PMID:32185651|PMID:32204475|PMID:32256364|PMID:32281737|PMID:32357917|PMID:32387800|PMID:32429104|PMID:32484936|PMID:32512765|PMID:32662942|PMID:32687833|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32926152|PMID:33020115|PMID:33083013|PMID:33097431|PMID:33118704|PMID:33144682|PMID:33260873|PMID:33270637|PMID:33341408|PMID:33348555|PMID:33365035|PMID:33374015|PMID:33375403|PMID:33393655|PMID:33468668|PMID:33502066|PMID:33572515|PMID:33577586|PMID:33613790|PMID:33686728|PMID:33713579|PMID:33768849|PMID:33836782|PMID:33922413|PMID:33946859|PMID:33972190|PMID:34086689|PMID:34134972|PMID:34145097|PMID:34196078|PMID:34276759|PMID:34350279|PMID:34405919|PMID:34426522|PMID:34525262|PMID:34583889|PMID:34680554|PMID:34888852|PMID:34974990|PMID:34996830|PMID:35011616|PMID:35096544|PMID:35109852|PMID:35313924|PMID:35418593|PMID:35527187|PMID:35585144|PMID:35626323|PMID:35698092|PMID:5371902|PMID:7472820|PMID:7475569|PMID:7493947|PMID:7504969|PMID:7505693|PMID:7506096|PMID:7506605|PMID:7508183|PMID:7508414|PMID:7509310|PMID:7512860|PMID:7513889|PMID:7515303|PMID:7517267|PMID:7517268|PMID:7518829|PMID:7520798|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7529319|PMID:7529962|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7539080|PMID:7539210|PMID:754013|PMID:7540133|PMID:7541274|PMID:7541510|PMID:7542778|PMID:7543317|PMID:7544319|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581407|PMID:7599637|PMID:7606851|PMID:7668304|PMID:7679367|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7682884|PMID:7683628|PMID:7683952|PMID:7684641|PMID:7684646|PMID:7686336|PMID:7686577|PMID:7686820|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7691344|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7739684|PMID:7789957|PMID:7868128|PMID:8092189|PMID:8100293|PMID:8343799|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8605891|PMID:8627844|PMID:8659542|PMID:8662892|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8740923|PMID:8741733|PMID:8825494|PMID:8825927|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8880589|PMID:8886242|PMID:8889582|PMID:8956039|PMID:9003498|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9099843|PMID:9101293|PMID:9108869|PMID:9135274|PMID:9150159|PMID:9163660|PMID:9164051|PMID:9235853|PMID:9239681|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157 11733191 CFTR CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:9272738|PMID:9305991|PMID:9321772|PMID:9374552|PMID:9375855|PMID:9379898|PMID:9383031|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9459003|PMID:9493456|PMID:9507391|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9557894|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9683582|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9797105|PMID:9799593|PMID:9806422|PMID:9915972|PMID:9917439|PMID:9921909|PMID:9950364|PMID:9950763 11733191 CFTR CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis | ClinVar Annotator: match by term: Pancreatitis, idiopathic, susceptibility to PMID:10026154|PMID:10077727|PMID:10103316|PMID:10200050|PMID:10204861|PMID:10206682|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10376575|PMID:10386624|PMID:10388469|PMID:10401194|PMID:10425036|PMID:10439967|PMID:10445602|PMID:10447267|PMID:10480369|PMID:10556281|PMID:10571949|PMID:10571955|PMID:10601093|PMID:10605524|PMID:10636451|PMID:10639207|PMID:10652351|PMID:10653141|PMID:10653145|PMID:10668931|PMID:10719683|PMID:10746558|PMID:10762539|PMID:10764788|PMID:10782933|PMID:10790222|PMID:10794365|PMID:10798368|PMID:10801389|PMID:10812063|PMID:10819640|PMID:10834512|PMID:10836331|PMID:10869121|PMID:10875853|PMID:10875876|PMID:10878476|PMID:10909845|PMID:10922395|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10970190|PMID:10980579|PMID:11001817|PMID:11005149|PMID:11025834|PMID:11055897|PMID:11069835|PMID:11101688|PMID:11137998|PMID:11168024|PMID:11180668|PMID:11186891|PMID:11242048|PMID:11278813|PMID:11280952|PMID:11303517|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11390899|PMID:11427889|PMID:11430710|PMID:11446424|PMID:11448786|PMID:11462247|PMID:11466205|PMID:11484207|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11585852|PMID:11668613|PMID:11729110|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11788091|PMID:11796434|PMID:11810271|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938439|PMID:11950844|PMID:12007216|PMID:12014388|PMID:12070257|PMID:12080183|PMID:12116247|PMID:12120234|PMID:12127423|PMID:12151438|PMID:12166651|PMID:12167682|PMID:12172395|PMID:12200467|PMID:12397022|PMID:12400067|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12521276|PMID:12578973|PMID:12624947|PMID:12658038|PMID:12719375|PMID:12732620|PMID:12752573|PMID:12759680|PMID:12767731|PMID:12815607|PMID:1283148|PMID:12843327|PMID:1284477|PMID:1284530|PMID:1284534|PMID:1284535|PMID:1284538|PMID:1284540|PMID:1284639|PMID:12865275|PMID:12874665|PMID:12919146|PMID:12938099|PMID:12940920|PMID:12952861|PMID:12955726|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1373935|PMID:1376016|PMID:1376017|PMID:1377276|PMID:1379210|PMID:1379413|PMID:1380673|PMID:1380943|PMID:1381146|PMID:1381442|PMID:1381723|PMID:1382316|PMID:1384321|PMID:1384326|PMID:1384328|PMID:14526128|PMID:14586256|PMID:14618962|PMID:14685937|PMID:14872121|PMID:14963811|PMID:14993601|PMID:14998948|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15246977|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15354332|PMID:1536179|PMID:15365999|PMID:15367919|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371907|PMID:1545465|PMID:15463840|PMID:15463866|PMID:15463888|PMID:15463906|PMID:15463907|PMID:15463919|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15504721|PMID:15520400|PMID:15536480|PMID:15614862|PMID:15619635|PMID:15638824|PMID:15640323|PMID:15645635|PMID:15681482|PMID:15698945|PMID:15698946|PMID:15705292|PMID:15716623|PMID:15738290|PMID:15744517|PMID:15744523|PMID:15758663|PMID:15772171|PMID:15775704|PMID:15776432|PMID:15784035|PMID:15829248|PMID:15857421|PMID:15858154|PMID:15905293|PMID:15948195|PMID:15987793|PMID:15994263|PMID:16020494|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16126774|PMID:16128988|PMID:16132229|PMID:16134171|PMID:16141195|PMID:16187186|PMID:16189704|PMID:16193325|PMID:16199547|PMID:16244288|PMID:16251901|PMID:16263954|PMID:16266832|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16339147|PMID:16362824|PMID:16435054|PMID:16436643|PMID:16442101|PMID:16443646|PMID:16478680|PMID:16481891|PMID:16484308|PMID:16488363|PMID:16499810|PMID:16596947|PMID:16617247|PMID:16635477|PMID:16678503|PMID:1673094|PMID:16741161|PMID:16778407|PMID:16778595|PMID:1678049|PMID:16784904|PMID:16786510|PMID:16801189|PMID:1682496|PMID:16840743|PMID:16915933|PMID:16931591|PMID:1695717|PMID:16963320|PMID:16980811|PMID:17003641 11733191 CFTR CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis | ClinVar Annotator: match by term: Pancreatitis, idiopathic, susceptibility to PMID:17015492|PMID:17020467|PMID:17020473|PMID:17035430|PMID:17048214|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:1712898|PMID:1715308|PMID:1716180|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1722350|PMID:1723032|PMID:17235394|PMID:17272608|PMID:17314234|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17353351|PMID:17380060|PMID:17413420|PMID:17448246|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17516627|PMID:17539902|PMID:1756602|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17580535|PMID:17591940|PMID:17594397|PMID:17594398|PMID:17662673|PMID:17663888|PMID:17681820|PMID:17692578|PMID:17716958|PMID:17718859|PMID:17719933|PMID:17850636|PMID:17890437|PMID:17901983|PMID:17949679|PMID:17968991|PMID:17975025|PMID:18078365|PMID:18178635|PMID:18180206|PMID:18193900|PMID:18195584|PMID:18230692|PMID:18234567|PMID:18304229|PMID:18305154|PMID:18306312|PMID:18373402|PMID:18394117|PMID:18421494|PMID:18449561|PMID:18455968|PMID:18456578|PMID:18501000|PMID:18507830|PMID:18556774|PMID:18567645|PMID:18639722|PMID:18685558|PMID:18687795|PMID:18703181|PMID:18703788|PMID:18716917|PMID:18778819|PMID:18782298|PMID:18796364|PMID:18937943|PMID:18951463|PMID:19014821|PMID:19017867|PMID:19019741|PMID:1903761|PMID:19092437|PMID:19092444|PMID:19176844|PMID:19181854|PMID:19202204|PMID:19227414|PMID:19236881|PMID:19265749|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19359498|PMID:1937486|PMID:19383231|PMID:1944451|PMID:19459534|PMID:19491324|PMID:19550280|PMID:19625452|PMID:19652440|PMID:19710401|PMID:19734299|PMID:1977306|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19845690|PMID:19846789|PMID:19878303|PMID:19880712|PMID:19883345|PMID:19885835|PMID:19893581|PMID:19897426|PMID:19914431|PMID:19925455|PMID:1997384|PMID:1998343|PMID:1999830|PMID:20021716|PMID:20052365|PMID:20052366|PMID:20059485|PMID:20100616|PMID:20116881|PMID:20163773|PMID:20167849|PMID:20186691|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20301773|PMID:20381036|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20510657|PMID:20522854|PMID:20538955|PMID:20551465|PMID:20558957|PMID:20571109|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20651897|PMID:20657600|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20717170|PMID:20722470|PMID:20797923|PMID:20837875|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20879059|PMID:20880762|PMID:20920895|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20949073|PMID:20952391|PMID:20977904|PMID:20981092|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21198395|PMID:21228398|PMID:2135388|PMID:21388895|PMID:21411740|PMID:21416780|PMID:21429822|PMID:21486785|PMID:21499205|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21594800|PMID:21642448|PMID:21658649|PMID:21679131|PMID:21708286|PMID:21716075|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21804385|PMID:21811577|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21931512|PMID:21965669|PMID:21976147|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22138447|PMID:22148899|PMID:2220803|PMID:22210114|PMID:22271776|PMID:22293084|PMID:22299590|PMID:22318583|PMID:22324837|PMID:22326559|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22427236|PMID:22438829|PMID:22439019|PMID:22449949|PMID:22468138|PMID:22483971|PMID:22504961|PMID:22569626|PMID:22572128|PMID:22591852|PMID:22658665|PMID:22664493|PMID:2267887|PMID:22678879|PMID:22680785|PMID:22724884|PMID:22768251|PMID:22842702|PMID:22892530|PMID:22942289|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22995991|PMID:22999299|PMID:2300168|PMID:23027855|PMID:23055971|PMID:23067305|PMID:23076339|PMID:23082198|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23261175|PMID:23276700|PMID:23286748 11733191 CFTR CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis | ClinVar Annotator: match by term: Pancreatitis, idiopathic, susceptibility to PMID:23302613|PMID:23313410|PMID:23343000|PMID:23361109|PMID:23378595|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23405520|PMID:23420618|PMID:23436935|PMID:2344617|PMID:23466340|PMID:23470247|PMID:2349952|PMID:23503723|PMID:23514810|PMID:23523379|PMID:23555973|PMID:23590265|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23709221|PMID:23716676|PMID:23721890|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23810505|PMID:238191399|PMID:23837941|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23924900|PMID:2395135|PMID:23951356|PMID:2397487|PMID:23974870|PMID:24033266|PMID:24058550|PMID:24066763|PMID:24081349|PMID:24129438|PMID:24204751|PMID:24243928|PMID:24269240|PMID:24272871|PMID:24375076|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24419263|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24517344|PMID:24525081|PMID:24559724|PMID:24586523|PMID:24624459|PMID:24631642|PMID:24696795|PMID:24697796|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24784896|PMID:24813944|PMID:24958810|PMID:24973281|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25077647|PMID:25087612|PMID:25122143|PMID:25133958|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25192979|PMID:25203624|PMID:25251442|PMID:25266159|PMID:25274949|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25311995|PMID:25326635|PMID:25330774|PMID:25333069|PMID:25346962|PMID:25383785|PMID:25403292|PMID:25443471|PMID:25473543|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25569187|PMID:25580864|PMID:25583415|PMID:25608981|PMID:25636364|PMID:2565038|PMID:25651269|PMID:25667564|PMID:25674778|PMID:25682022|PMID:25697318|PMID:25697321|PMID:25698453|PMID:25704068|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25754095|PMID:25755212|PMID:25763566|PMID:25781545|PMID:25797027|PMID:25799511|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25900089|PMID:25910067|PMID:25940043|PMID:25963003|PMID:25981758|PMID:26006199|PMID:26014425|PMID:26038974|PMID:26070913|PMID:26075213|PMID:26087176|PMID:26089335|PMID:26095523|PMID:26098992|PMID:26100556|PMID:26135562|PMID:26149808|PMID:26182300|PMID:26199320|PMID:26277102|PMID:26324139|PMID:26335950|PMID:26348465|PMID:26364555|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26500004|PMID:26538069|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26656651|PMID:26671754|PMID:26708955|PMID:26755536|PMID:26795017|PMID:26800689|PMID:26823392|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26856995|PMID:26888287|PMID:26898888|PMID:26900683|PMID:26911355|PMID:26946416|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27081564|PMID:27086061|PMID:27143075|PMID:27158673|PMID:27171515|PMID:27214204|PMID:27222777|PMID:27264265|PMID:27298017|PMID:27324553|PMID:27334259|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27535533|PMID:27555793|PMID:27577878|PMID:27578509|PMID:27625827|PMID:27660821|PMID:27665964|PMID:27673710|PMID:27707539|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27787503|PMID:27805836|PMID:27812499|PMID:27884173|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28027573|PMID:28040058|PMID:28129809|PMID:28194692|PMID:28261631|PMID:28325531|PMID:28340353|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28422754|PMID:28440306|PMID:28456595|PMID:28465863|PMID:28469871|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28655774|PMID:28711222|PMID:28736296|PMID:28784578|PMID:28801929|PMID:28830496|PMID:28863137|PMID:28930490|PMID:28947035|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29133775|PMID:29168366 11733191 CFTR CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis | ClinVar Annotator: match by term: Pancreatitis, idiopathic, susceptibility to PMID:29173301|PMID:29174009|PMID:29178639|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29292091|PMID:29298718|PMID:29327948|PMID:29360847|PMID:29431110|PMID:29451946|PMID:29484681|PMID:29504914|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29727070|PMID:29754320|PMID:29779145|PMID:29805046|PMID:29807875|PMID:29859674|PMID:29936070|PMID:29944384|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30032850|PMID:30046002|PMID:30089726|PMID:30134826|PMID:30230364|PMID:30232781|PMID:30244528|PMID:30279124|PMID:30379828|PMID:30420730|PMID:30444886|PMID:30450785|PMID:30459277|PMID:30487145|PMID:30488522|PMID:30540547|PMID:30548586|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30698611|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30805437|PMID:30811104|PMID:30845638|PMID:30873022|PMID:30888834|PMID:30938940|PMID:30979466|PMID:30992994|PMID:30996306|PMID:31005549|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31088717|PMID:31118044|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31310009|PMID:31331863|PMID:31350925|PMID:31378749|PMID:31423445|PMID:31447099|PMID:31450232|PMID:31508243|PMID:31523618|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31759907|PMID:31788424|PMID:31808782|PMID:31844968|PMID:31845523|PMID:31848897|PMID:31872980|PMID:31883651|PMID:31916691|PMID:31940241|PMID:31978131|PMID:31980526|PMID:31990467|PMID:31992191|PMID:32025909|PMID:32113160|PMID:32143663|PMID:32150665|PMID:32155011|PMID:32172930|PMID:32185651|PMID:32204475|PMID:32256364|PMID:32281737|PMID:32357917|PMID:32387800|PMID:32429104|PMID:32484936|PMID:32512765|PMID:32662942|PMID:32687833|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32926152|PMID:33020115|PMID:33083013|PMID:33097431|PMID:33118704|PMID:33144682|PMID:33260873|PMID:33270637|PMID:33341408|PMID:33348555|PMID:33365035|PMID:33374015|PMID:33375403|PMID:33393655|PMID:33468668|PMID:33502066|PMID:33572515|PMID:33577586|PMID:33613790|PMID:33686728|PMID:33713579|PMID:33768849|PMID:33836782|PMID:33922413|PMID:33946859|PMID:33972190|PMID:34086689|PMID:34134972|PMID:34145097|PMID:34196078|PMID:34276759|PMID:34350279|PMID:34405919|PMID:34426522|PMID:34525262|PMID:34583889|PMID:34680554|PMID:34782259|PMID:34888852|PMID:34964109|PMID:34974990|PMID:34996830|PMID:35011616|PMID:35096544|PMID:35109852|PMID:35313924|PMID:35387941|PMID:35418593|PMID:35527187|PMID:35585144|PMID:35626323|PMID:35698092|PMID:5371902|PMID:7472820|PMID:7475569|PMID:7493947|PMID:7504969|PMID:7505693|PMID:7506096|PMID:7506605|PMID:7508183|PMID:7508414|PMID:7509310|PMID:7512860|PMID:7513889|PMID:7515303|PMID:7517267|PMID:7517268|PMID:7518829|PMID:7520798|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7529319|PMID:7529962|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7539080|PMID:7539210|PMID:754013|PMID:7540133|PMID:7541274|PMID:7541510|PMID:7542778|PMID:7543317|PMID:7544319|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581407|PMID:7599637|PMID:7606851|PMID:7668304|PMID:7679367|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7682196|PMID:7682884|PMID:7683628|PMID:7683952|PMID:7684641|PMID:7684646|PMID:7686336|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7691344|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7739684|PMID:7789957|PMID:7868128|PMID:8092189|PMID:8100293|PMID:8343799|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8605891|PMID:8627844|PMID:8659542|PMID:8662892|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8740923|PMID:8741733|PMID:8825494|PMID:8825927|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8880589|PMID:8886242|PMID:8889582|PMID:8947061|PMID:8956039 11733191 CFTR CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis | ClinVar Annotator: match by term: Pancreatitis, idiopathic, susceptibility to PMID:9003498|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9099843|PMID:9101293|PMID:9108869|PMID:9135274|PMID:9150159|PMID:9163660|PMID:9164051|PMID:9235853|PMID:9239681|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9305991|PMID:9321772|PMID:9374552|PMID:9375855|PMID:9379898|PMID:9383031|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9459003|PMID:9482579|PMID:9493456|PMID:9507391|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9557894|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9683582|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9797105|PMID:9799593|PMID:9806422|PMID:9915972|PMID:9917439|PMID:9921909|PMID:9950364|PMID:9950763 11733191 CFTR CF transmembrane conductance regulator gene DOID:9009073 Diaphragmatic Hernia ISO RGD:619566 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16473863 11733191 CFTR CF transmembrane conductance regulator gene DOID:9563 bronchiectasis ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome PMID:10103316|PMID:10200050|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10388469|PMID:10401194|PMID:10425036|PMID:10439967|PMID:10445602|PMID:10556281|PMID:10571949|PMID:10601093|PMID:10636451|PMID:10639207|PMID:10653141|PMID:10653145|PMID:10746558|PMID:10762539|PMID:10764788|PMID:10782933|PMID:10794365|PMID:10798368|PMID:10819640|PMID:10836331|PMID:10875853|PMID:10909845|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:11005149|PMID:11055897|PMID:11101688|PMID:11137998|PMID:11168024|PMID:11186891|PMID:11242048|PMID:11280952|PMID:11303517|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11427889|PMID:11448786|PMID:11466205|PMID:11484207|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11668613|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11796434|PMID:11810271|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11938439|PMID:12007216|PMID:12080183|PMID:12120234|PMID:12397022|PMID:12400067|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12578973|PMID:12624947|PMID:12719375|PMID:12732620|PMID:12767731|PMID:12815607|PMID:1283148|PMID:1284477|PMID:1284534|PMID:1284538|PMID:1284540|PMID:1284639|PMID:12865275|PMID:12874665|PMID:12919146|PMID:12938099|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1373935|PMID:1376016|PMID:1377276|PMID:1379210|PMID:1379413|PMID:1380673|PMID:1381146|PMID:1381442|PMID:1382316|PMID:1384321|PMID:1384328|PMID:14526128|PMID:14618962|PMID:14685937|PMID:14998948|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15097853|PMID:15126740|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15246977|PMID:15287992|PMID:15300780|PMID:15354332|PMID:1536179|PMID:15365999|PMID:15367919|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15463888|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15504721|PMID:15536480|PMID:15638824|PMID:15640323|PMID:15698945|PMID:15698946|PMID:15738290|PMID:15758663|PMID:15775704|PMID:15776432|PMID:15858154|PMID:15905293|PMID:15948195|PMID:15987793|PMID:15994263|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16126774|PMID:16132229|PMID:16189704|PMID:16199547|PMID:16251901|PMID:16266832|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16339147|PMID:16436643|PMID:16442101|PMID:16443646|PMID:16478680|PMID:16488363|PMID:16499810|PMID:16596947|PMID:16617247|PMID:1673094|PMID:16778407|PMID:1678049|PMID:16784904|PMID:16801189|PMID:1682496|PMID:16840743|PMID:1695717|PMID:16963320|PMID:16980811|PMID:17003641|PMID:17015492|PMID:17035430|PMID:17048214|PMID:1709778|PMID:17098482|PMID:1710599|PMID:1712898|PMID:1715308|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1723032|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17353351|PMID:17380060|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17516627|PMID:1756602|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17662673|PMID:17663888|PMID:17692578|PMID:17890437|PMID:17901983|PMID:17949679|PMID:18078365|PMID:18178635|PMID:18180206|PMID:18230692|PMID:18234567|PMID:18306312|PMID:18373402|PMID:18394117|PMID:18421494|PMID:18449561|PMID:18456578|PMID:18507830|PMID:18556774|PMID:18639722|PMID:18687795|PMID:18716917|PMID:18778819|PMID:18796364|PMID:18951463|PMID:19092437|PMID:19176844|PMID:19181854|PMID:19202204|PMID:19227414|PMID:19265749|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19359498|PMID:1937486|PMID:19459534|PMID:19491324|PMID:19550280|PMID:19625452|PMID:19652440|PMID:19734299|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19845690|PMID:19846789|PMID:19878303|PMID:19880712|PMID:19885835|PMID:19897426|PMID:19914431|PMID:19925455|PMID:1997384|PMID:1999830|PMID:20021716|PMID:20052365|PMID:20059485|PMID:20116881|PMID:20163773|PMID:20167849|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20381036|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20510657|PMID:20522854|PMID:20538955|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20651897 11733191 CFTR CF transmembrane conductance regulator gene DOID:9563 bronchiectasis ISO RGD:619566 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20722470|PMID:20797923|PMID:20849526|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20977904|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21152102|PMID:21184098|PMID:21228398|PMID:2135388|PMID:21411740|PMID:21416780|PMID:21486785|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21594800|PMID:21642448|PMID:21658649|PMID:21679131|PMID:21716075|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21811577|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21931512|PMID:21965669|PMID:21976147|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22138447|PMID:2220803|PMID:22293084|PMID:22299590|PMID:22318583|PMID:22326559|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22427236|PMID:22449949|PMID:22468138|PMID:22569626|PMID:22572128|PMID:22658665|PMID:22664493|PMID:22678879|PMID:22680785|PMID:22768251|PMID:22942289|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22999299|PMID:2300168|PMID:23027855|PMID:23067305|PMID:23082198|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23361109|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23405520|PMID:23420618|PMID:23436935|PMID:2344617|PMID:23466340|PMID:2349952|PMID:23514810|PMID:23523379|PMID:23590265|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23709221|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23810505|PMID:238191399|PMID:23837941|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23924900|PMID:23951356|PMID:2397487|PMID:23974870|PMID:24033266|PMID:24066763|PMID:24081349|PMID:24129438|PMID:24243928|PMID:24269240|PMID:24375076|PMID:2441227|PMID:24412276|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24525081|PMID:24559724|PMID:24586523|PMID:24631642|PMID:24696795|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24784896|PMID:24813944|PMID:24958810|PMID:24973281|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25087612|PMID:25122143|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25192979|PMID:25203624|PMID:25266159|PMID:25274949|PMID:25287046|PMID:25311995|PMID:25330774|PMID:25333069|PMID:25383785|PMID:25443471|PMID:25473543|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25580864|PMID:25583415|PMID:25608981|PMID:25636364|PMID:25651269|PMID:25682022|PMID:25697318|PMID:25697321|PMID:25698453|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25755212|PMID:25763566|PMID:25797027|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25900089|PMID:25910067|PMID:25940043|PMID:25963003|PMID:25981758|PMID:26006199|PMID:26014425|PMID:26070913|PMID:26087176|PMID:26095523|PMID:26098992|PMID:26135562|PMID:26149808|PMID:26182300|PMID:26199320|PMID:26277102|PMID:26324139|PMID:26348465|PMID:26436105|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26500004|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26708955|PMID:26795017|PMID:26800689|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26911355|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27086061|PMID:27143075|PMID:27158673|PMID:27171515|PMID:27264265|PMID:27298017|PMID:27334259|PMID:27347467|PMID:27364092|PMID:27449771|PMID:27469177|PMID:27577878|PMID:27625827|PMID:27660821|PMID:27665964|PMID:27673710|PMID:27707539|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27805836|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28040058|PMID:28129809|PMID:28194692|PMID:28261631|PMID:28325531|PMID:28371569|PMID:28408918|PMID:28419121|PMID:28440306|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620 11733191 CFTR CF transmembrane conductance regulator gene DOID:9563 bronchiectasis ISO RGD:619566 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28711222|PMID:28801929|PMID:28863137|PMID:28930490|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29133775|PMID:29173301|PMID:29216686|PMID:29261177|PMID:29298718|PMID:29327948|PMID:29360847|PMID:29431110|PMID:29451946|PMID:29484681|PMID:29504914|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29805046|PMID:29944384|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30046002|PMID:30089726|PMID:30244528|PMID:30279124|PMID:30420730|PMID:30444886|PMID:30487145|PMID:30488522|PMID:30548586|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30811104|PMID:30845638|PMID:30888834|PMID:30938940|PMID:30992994|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31118044|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31310009|PMID:31331863|PMID:31350925|PMID:31447099|PMID:31450232|PMID:31508243|PMID:31523618|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31788424|PMID:31808782|PMID:31916691|PMID:31980526|PMID:32204475|PMID:32281737|PMID:32357917|PMID:32429104|PMID:32662942|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32819855|PMID:33083013|PMID:33097431|PMID:33118704|PMID:33144682|PMID:33260873|PMID:33270637|PMID:33365035|PMID:33374015|PMID:33572515|PMID:33613790|PMID:33686728|PMID:33713579|PMID:33836782|PMID:33946859|PMID:33972190|PMID:34134972|PMID:34145097|PMID:34426522|PMID:34525262|PMID:34888852|PMID:34974990|PMID:34996830|PMID:35418593|PMID:35585144|PMID:35626323|PMID:35698092|PMID:5371902|PMID:7472820|PMID:7475569|PMID:7493947|PMID:7504969|PMID:7506096|PMID:7506605|PMID:7508414|PMID:7509310|PMID:7512860|PMID:7515303|PMID:7517267|PMID:7517268|PMID:7518829|PMID:7520798|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7529962|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7539080|PMID:754013|PMID:7540133|PMID:7541274|PMID:7541510|PMID:7542778|PMID:7544319|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581407|PMID:7599637|PMID:7668304|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7682196|PMID:7684641|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7691344|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7739684|PMID:7789957|PMID:7868128|PMID:8092189|PMID:8100293|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8533846|PMID:8535440|PMID:8605891|PMID:8659542|PMID:8662892|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8740923|PMID:8741733|PMID:8825494|PMID:8825927|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8880589|PMID:8886242|PMID:8889582|PMID:8956039|PMID:9003498|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067761|PMID:9101293|PMID:9135274|PMID:9150159|PMID:9164051|PMID:9235853|PMID:9239681|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9305991|PMID:9321772|PMID:9374552|PMID:9375855|PMID:9383031|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9493456|PMID:9507391|PMID:9536098|PMID:9550361|PMID:9557894|PMID:9618063|PMID:9630075|PMID:9683582|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9799593|PMID:9806422|PMID:9915972|PMID:9921909|PMID:9950364|PMID:9950763 11733191 CFTR CF transmembrane conductance regulator gene DOID:9563 bronchiectasis susceptibility ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:mutations, polymorphisms: PMID:7543317|REF_RGD_ID:4140447 11733223 LOC100990880 ubiquinol-cytochrome-c reductase complex assembly factor 4 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1605551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 11733223 LOC100990880 ubiquinol-cytochrome-c reductase complex assembly factor 4 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605551 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11733223 LOC100990880 ubiquinol-cytochrome-c reductase complex assembly factor 4 gene DOID:1826 epilepsy ISO RGD:1605551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11733223 LOC100990880 ubiquinol-cytochrome-c reductase complex assembly factor 4 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11733231 SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:0080205 CAKUT ISO RGD:1348930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:25741868|PMID:26026792|PMID:30143558 11733231 SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:0080206 CAKUT1 ISO RGD:1348930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1, susceptibility to PMID:25741868|PMID:26026792|PMID:30143558 11733231 SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:0080600 COVID-19 ISO RGD:1348930 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11733231 SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:0111112 nephronophthisis 1 ISO RGD:1348930 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:26026792|PMID:30143558 11733231 SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:12712 nephronophthisis ISO RGD:1348930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:26026792|PMID:30143558 11733231 SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1557733 D RGD:9068941 20230323 MouseDO 11733231 SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:630 genetic disease ISO RGD:1348930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733231 SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:9003676 Brain Hypoxia-Ischemia exacerbates ISO RGD:1566260 D RGD:9068941 20230330 RGD PMID:31356825|REF_RGD_ID:242905191 11733231 SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:1348930 D RGD:7240710 20180130 OMIM 11733231 SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:1348930 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 PMID:23539728|PMID:25741868|PMID:28492532 11733259 SLC25A41 solute carrier family 25 member 41 gene DOID:0080490 mucolipidosis type IV ISO RGD:1604180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11733259 SLC25A41 solute carrier family 25 member 41 gene DOID:630 genetic disease ISO RGD:1604180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733270 SIRPA signal regulatory protein alpha gene DOID:0060071 pre-malignant neoplasm ISO RGD:736759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11733270 SIRPA signal regulatory protein alpha gene DOID:630 genetic disease ISO RGD:736759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733289 MARCO macrophage receptor with collagenous structure gene DOID:0040084 Streptococcus pneumonia exacerbates ISO RGD:1558468 D RGD:9068941 20210226 RGD PMID:15263032|REF_RGD_ID:41412189 11733289 MARCO macrophage receptor with collagenous structure gene DOID:0080176 meningococcal meningitis ISO RGD:1589662 D RGD:9068941 20210226 RGD protein:increased expression:sub-cortical, meninges, astrocyte PMID:21299846|REF_RGD_ID:41412190 11733289 MARCO macrophage receptor with collagenous structure gene DOID:0080600 COVID-19 ISO RGD:1349062 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11733289 MARCO macrophage receptor with collagenous structure gene DOID:10325 silicosis treatment ISO RGD:1589662 D RGD:9068941 20210226 RGD PMID:30391304|REF_RGD_ID:41412200 11733289 MARCO macrophage receptor with collagenous structure gene DOID:12053 cryptococcosis disease_progression ISO RGD:1558468 D RGD:9068941 20210226 RGD PMID:28298522|REF_RGD_ID:41412191 11733289 MARCO macrophage receptor with collagenous structure gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1349062 D RGD:9068941 20210226 RGD DNA:SNP: :rs12998782(human) PMID:28693442|REF_RGD_ID:41412192 11733289 MARCO macrophage receptor with collagenous structure gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1349062 D RGD:9068941 20210226 RGD DNA:SNPs: :rs2278589, rs6751745,rs6748401 (human) PMID:27853145|REF_RGD_ID:41412194 11733289 MARCO macrophage receptor with collagenous structure gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1349062 D RGD:9068941 20210226 RGD DNA:SNPs:introns:rs4491733,rs12998782,rs13389814,rs7559955 (human) PMID:23617307|REF_RGD_ID:41412195 11733289 MARCO macrophage receptor with collagenous structure gene DOID:630 genetic disease ISO RGD:1349062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733289 MARCO macrophage receptor with collagenous structure gene DOID:684 hepatocellular carcinoma ISO RGD:1349062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11733289 MARCO macrophage receptor with collagenous structure gene DOID:9000113 Pneumococcal Meningitis ISO RGD:1589662 D RGD:9068941 20210226 RGD protein:increased expression:meninges, astrocyte PMID:21299846|REF_RGD_ID:41412190 11733289 MARCO macrophage receptor with collagenous structure gene DOID:9000371 influenza A ameliorates ISO RGD:1558468 D RGD:9068941 20210226 RGD PMID:21562316|REF_RGD_ID:41412197 11733289 MARCO macrophage receptor with collagenous structure gene DOID:9006732 Clostridium Infections exacerbates ISO RGD:1558468 D RGD:9068941 20210226 RGD PMID:20810988|REF_RGD_ID:41412193 11733289 MARCO macrophage receptor with collagenous structure gene DOID:9008559 Bacterial Lung Diseases disease_progression ISO RGD:1558468 D RGD:9068941 20210226 RGD association with Cryptococcal neoformans infection. PMID:28298522|REF_RGD_ID:41412191 11733289 MARCO macrophage receptor with collagenous structure gene DOID:9351 diabetes mellitus ISO RGD:1558468 D RGD:9068941 20210226 RGD protein:decreased expression:Alveolar macrophage PMID:27630197|REF_RGD_ID:41412199 11733314 CDK9 cyclin dependent kinase 9 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11733314 CDK9 cyclin dependent kinase 9 gene DOID:0050902 medulloblastoma ISO RGD:1346548 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:31594641 11733314 CDK9 cyclin dependent kinase 9 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1346548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11733314 CDK9 cyclin dependent kinase 9 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1346548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11733314 CDK9 cyclin dependent kinase 9 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1346548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 11733314 CDK9 cyclin dependent kinase 9 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11733314 CDK9 cyclin dependent kinase 9 gene DOID:6000 congestive heart failure ISO RGD:1346548 D RGD:9068941 20200609 RGD protein:increased activity:ventricle: PMID:15297879|REF_RGD_ID:1556509 11733314 CDK9 cyclin dependent kinase 9 gene DOID:6000 congestive heart failure ISO RGD:1552365 D RGD:9068941 20200609 RGD protein:increased activity:heart: PMID:15297879|REF_RGD_ID:1556509 11733314 CDK9 cyclin dependent kinase 9 gene DOID:630 genetic disease ISO RGD:1346548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733314 CDK9 cyclin dependent kinase 9 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1359638 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver: PMID:20828602|REF_RGD_ID:9698426 11733325 MAGEC1 MAGE family member C1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11733325 MAGEC1 MAGE family member C1 gene DOID:1227 neutropenia ISO RGD:1347095 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 11733325 MAGEC1 MAGE family member C1 gene DOID:12849 autistic disorder ISO RGD:1347095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11733325 MAGEC1 MAGE family member C1 gene DOID:1909 melanoma ISO RGD:1347095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842228 11733325 MAGEC1 MAGE family member C1 gene DOID:5419 schizophrenia ISO RGD:1347095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 11733325 MAGEC1 MAGE family member C1 gene DOID:630 genetic disease ISO RGD:1347095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733331 ZBTB7B zinc finger and BTB domain containing 7B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1314302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11733331 ZBTB7B zinc finger and BTB domain containing 7B gene DOID:0111940 immunodeficiency 42 ISO RGD:1314302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11733331 ZBTB7B zinc finger and BTB domain containing 7B gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11733331 ZBTB7B zinc finger and BTB domain containing 7B gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314302 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11733331 ZBTB7B zinc finger and BTB domain containing 7B gene DOID:1540 parathyroid carcinoma ISO RGD:1314302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11733331 ZBTB7B zinc finger and BTB domain containing 7B gene DOID:5812 MHC class II deficiency ISO RGD:1314302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11733331 ZBTB7B zinc finger and BTB domain containing 7B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11733331 ZBTB7B zinc finger and BTB domain containing 7B gene DOID:9970 obesity ISO RGD:1314302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 11733365 ORMDL1 ORMDL sphingolipid biosynthesis regulator 1 gene DOID:0111944 immunodeficiency 31B ISO RGD:1347149 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 11733365 ORMDL1 ORMDL sphingolipid biosynthesis regulator 1 gene DOID:3883 Lynch syndrome ISO RGD:1347149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lynch syndrome 11733365 ORMDL1 ORMDL sphingolipid biosynthesis regulator 1 gene DOID:630 genetic disease ISO RGD:1347149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733365 ORMDL1 ORMDL sphingolipid biosynthesis regulator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11733412 ERICH6B glutamate rich 6B gene DOID:630 genetic disease ISO RGD:1606127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733413 NKAIN1 sodium/potassium transporting ATPase interacting 1 gene DOID:630 genetic disease ISO RGD:1606507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733427 NXNL2 nucleoredoxin like 2 gene DOID:630 genetic disease ISO RGD:1351751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733437 OTP orthopedia homeobox gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1345021 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 11733437 OTP orthopedia homeobox gene DOID:630 genetic disease ISO RGD:1345021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733437 OTP orthopedia homeobox gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11733445 GABRQ gamma-aminobutyric acid type A receptor subunit theta gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11733445 GABRQ gamma-aminobutyric acid type A receptor subunit theta gene DOID:12849 autistic disorder ISO RGD:731793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11733445 GABRQ gamma-aminobutyric acid type A receptor subunit theta gene DOID:630 genetic disease ISO RGD:731793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733458 THRAP3 thyroid hormone receptor associated protein 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1314565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11733458 THRAP3 thyroid hormone receptor associated protein 3 gene DOID:630 genetic disease ISO RGD:1314565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733474 PUF60 poly(U) binding splicing factor 60 gene DOID:0050834 CHARGE syndrome ISO RGD:731253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:25741868|PMID:29300383 11733474 PUF60 poly(U) binding splicing factor 60 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:731253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11733474 PUF60 poly(U) binding splicing factor 60 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11733474 PUF60 poly(U) binding splicing factor 60 gene DOID:4621 holoprosencephaly ISO RGD:731253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11733474 PUF60 poly(U) binding splicing factor 60 gene DOID:630 genetic disease ISO RGD:731253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28074499|PMID:28327570|PMID:28471317 11733474 PUF60 poly(U) binding splicing factor 60 gene DOID:9000637 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES ISO RGD:731253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities PMID:25741868 11733474 PUF60 poly(U) binding splicing factor 60 gene DOID:9002170 Experimental Neoplasms ISO RGD:731253 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21435101 11733474 PUF60 poly(U) binding splicing factor 60 gene DOID:9003566 Mesothelioma ISO RGD:731253 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21435101 11733474 PUF60 poly(U) binding splicing factor 60 gene DOID:9003952 Verheij Syndrome ISO RGD:731253 D RGD:7240710 20180130 OMIM 11733474 PUF60 poly(U) binding splicing factor 60 gene DOID:9003952 Verheij Syndrome ISO RGD:731253 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CHROMOSOME 8q24.3 DELETION SYNDROME | ClinVar Annotator: match by term: Verheij syndrome PMID:18414213|PMID:24140112|PMID:25741868|PMID:27804958|PMID:28074499|PMID:28327570|PMID:28471317|PMID:28492532|PMID:29300383|PMID:30352594 11733474 PUF60 poly(U) binding splicing factor 60 gene DOID:9004226 Hittner Hirsch Kreh Syndrome ISO RGD:731253 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome PMID:25741868|PMID:29300383 11733474 PUF60 poly(U) binding splicing factor 60 gene DOID:9005749 Necrosis ISO RGD:731253 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21435101 11733514 C16H16orf74 chromosome 16 C16orf74 homolog gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1606366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 11733514 C16H16orf74 chromosome 16 C16orf74 homolog gene DOID:630 genetic disease ISO RGD:1606366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733522 CEACAM20 CEA cell adhesion molecule 20 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1601830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 11733522 CEACAM20 CEA cell adhesion molecule 20 gene DOID:5050 Ehrlich tumor carcinoma ISO RGD:1601830 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34605108 11733522 CEACAM20 CEA cell adhesion molecule 20 gene DOID:630 genetic disease ISO RGD:1601830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733546 NCOA5 nuclear receptor coactivator 5 gene DOID:2234 focal epilepsy ISO RGD:1317043 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11733546 NCOA5 nuclear receptor coactivator 5 gene DOID:630 genetic disease ISO RGD:1317043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733557 ALKBH3 alkB homolog 3, alpha-ketoglutarate dependent dioxygenase gene DOID:1059 intellectual disability ISO RGD:1606677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11733557 ALKBH3 alkB homolog 3, alpha-ketoglutarate dependent dioxygenase gene DOID:630 genetic disease ISO RGD:1606677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733574 ZNF648 zinc finger protein 648 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1606465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 11733574 ZNF648 zinc finger protein 648 gene DOID:1540 parathyroid carcinoma ISO RGD:1606465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11733574 ZNF648 zinc finger protein 648 gene DOID:630 genetic disease ISO RGD:1606465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733574 ZNF648 zinc finger protein 648 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1606465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11733574 ZNF648 zinc finger protein 648 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11733580 EDF1 endothelial differentiation related factor 1 gene DOID:0050777 Joubert syndrome ISO RGD:1317635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11733580 EDF1 endothelial differentiation related factor 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1317635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11733580 EDF1 endothelial differentiation related factor 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1317635 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11733580 EDF1 endothelial differentiation related factor 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1317635 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11733580 EDF1 endothelial differentiation related factor 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1317635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11733580 EDF1 endothelial differentiation related factor 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1317635 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11733580 EDF1 endothelial differentiation related factor 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1317635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 11733580 EDF1 endothelial differentiation related factor 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1317635 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11733580 EDF1 endothelial differentiation related factor 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1317635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11733580 EDF1 endothelial differentiation related factor 1 gene DOID:3652 Leigh disease ISO RGD:1317635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11733580 EDF1 endothelial differentiation related factor 1 gene DOID:630 genetic disease ISO RGD:1317635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733580 EDF1 endothelial differentiation related factor 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1317635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11733588 BET1 Bet1 golgi vesicular membrane trafficking protein gene DOID:0080600 COVID-19 ISO RGD:732892 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11733588 BET1 Bet1 golgi vesicular membrane trafficking protein gene DOID:1826 epilepsy ISO RGD:732892 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11733588 BET1 Bet1 golgi vesicular membrane trafficking protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11733601 ZNF233 zinc finger protein 233 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1353655 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 11733601 ZNF233 zinc finger protein 233 gene DOID:5419 schizophrenia ISO RGD:1353655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11733601 ZNF233 zinc finger protein 233 gene DOID:630 genetic disease ISO RGD:1353655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733610 TEX261 testis expressed 261 gene DOID:543 dystonia ISO RGD:1346300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11733610 TEX261 testis expressed 261 gene DOID:630 genetic disease ISO RGD:1346300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733610 TEX261 testis expressed 261 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1346300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11733620 FZD10 frizzled class receptor 10 gene DOID:630 genetic disease ISO RGD:1347205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733624 NAA20 N-alpha-acetyltransferase 20, NatB catalytic subunit gene DOID:0081233 autosomal recessive intellectual developmental disorder 73 ISO RGD:1317063 D RGD:7240710 20220323 OMIM 11733624 NAA20 N-alpha-acetyltransferase 20, NatB catalytic subunit gene DOID:0081233 autosomal recessive intellectual developmental disorder 73 ISO RGD:1317063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 73 11733624 NAA20 N-alpha-acetyltransferase 20, NatB catalytic subunit gene DOID:630 genetic disease ISO RGD:1317063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733634 C9H9orf131 chromosome 9 C9orf131 homolog gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1604527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11733634 C9H9orf131 chromosome 9 C9orf131 homolog gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1604527 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11733634 C9H9orf131 chromosome 9 C9orf131 homolog gene DOID:0080942 anauxetic dysplasia ISO RGD:1604527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11733634 C9H9orf131 chromosome 9 C9orf131 homolog gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1604527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11733634 C9H9orf131 chromosome 9 C9orf131 homolog gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1604527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11733634 C9H9orf131 chromosome 9 C9orf131 homolog gene DOID:630 genetic disease ISO RGD:1604527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733634 C9H9orf131 chromosome 9 C9orf131 homolog gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1604527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11733634 C9H9orf131 chromosome 9 C9orf131 homolog gene DOID:9562 primary ciliary dyskinesia ISO RGD:1604527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11733634 C9H9orf131 chromosome 9 C9orf131 homolog gene DOID:9870 galactosemia ISO RGD:1604527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11733645 ATP6V1G2 ATPase H+ transporting V1 subunit G2 gene DOID:0050553 JMP syndrome ISO RGD:1347481 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11733645 ATP6V1G2 ATPase H+ transporting V1 subunit G2 gene DOID:11372 megacolon ISO RGD:1347481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11733645 ATP6V1G2 ATPase H+ transporting V1 subunit G2 gene DOID:630 genetic disease ISO RGD:1347481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733660 DCAF13 DDB1 and CUL4 associated factor 13 gene DOID:0111590 Cohen syndrome ISO RGD:1604028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 11733660 DCAF13 DDB1 and CUL4 associated factor 13 gene DOID:630 genetic disease ISO RGD:1604028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733675 GCA grancalcin gene DOID:12849 autistic disorder ISO RGD:1315291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 11733675 GCA grancalcin gene DOID:630 genetic disease ISO RGD:1315291 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733692 MCM10 minichromosome maintenance 10 replication initiation factor gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1322725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11733692 MCM10 minichromosome maintenance 10 replication initiation factor gene DOID:0080600 COVID-19 ISO RGD:1322725 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11733692 MCM10 minichromosome maintenance 10 replication initiation factor gene DOID:1070 primary open angle glaucoma ISO RGD:1322725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:28492532 11733692 MCM10 minichromosome maintenance 10 replication initiation factor gene DOID:630 genetic disease ISO RGD:1322725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733692 MCM10 minichromosome maintenance 10 replication initiation factor gene DOID:684 hepatocellular carcinoma ISO RGD:1322725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11733692 MCM10 minichromosome maintenance 10 replication initiation factor gene DOID:9004909 Immunodeficiency 80 ISO RGD:1322725 D RGD:7240710 20210526 OMIM 11733692 MCM10 minichromosome maintenance 10 replication initiation factor gene DOID:9004909 Immunodeficiency 80 ISO RGD:1322725 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 80 with or without congenital cardiomyopathy PMID:25741868|PMID:32865517|PMID:33712616 11733723 USP16 ubiquitin specific peptidase 16 gene DOID:630 genetic disease ISO RGD:1316236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733752 ARHGAP30 Rho GTPase activating protein 30 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1604190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11733752 ARHGAP30 Rho GTPase activating protein 30 gene DOID:11612 polycystic ovary syndrome ISO RGD:1604190 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11733752 ARHGAP30 Rho GTPase activating protein 30 gene DOID:1540 parathyroid carcinoma ISO RGD:1604190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11733752 ARHGAP30 Rho GTPase activating protein 30 gene DOID:630 genetic disease ISO RGD:1604190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733752 ARHGAP30 Rho GTPase activating protein 30 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604190 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11733752 ARHGAP30 Rho GTPase activating protein 30 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11733773 SLC37A2 solute carrier family 37 member 2 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1313712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11733773 SLC37A2 solute carrier family 37 member 2 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1313712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11733773 SLC37A2 solute carrier family 37 member 2 gene DOID:5419 schizophrenia ISO RGD:1313712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11733773 SLC37A2 solute carrier family 37 member 2 gene DOID:630 genetic disease ISO RGD:1313712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733773 SLC37A2 solute carrier family 37 member 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1313712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11733773 SLC37A2 solute carrier family 37 member 2 gene DOID:9007661 Dwarfism ISO RGD:1313712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11733800 OAT ornithine aminotransferase gene DOID:1415 gyrate atrophy ISO RGD:1350711 D RGD:7240710 20180130 OMIM 11733800 OAT ornithine aminotransferase gene DOID:1415 gyrate atrophy ISO RGD:1350711 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ornithine aminotransferase deficiency PMID:10617919|PMID:11297489|PMID:12221166|PMID:1301936|PMID:1427882|PMID:1487247|PMID:15750329|PMID:1609808|PMID:1612597|PMID:16151897|PMID:1618792|PMID:16199547|PMID:1737786|PMID:17576681|PMID:1992472|PMID:22182799|PMID:2220818|PMID:22674428|PMID:2276738|PMID:23076989|PMID:24082780|PMID:24429551|PMID:2492100|PMID:25640679|PMID:2565038|PMID:25741868|PMID:26259030|PMID:27037922|PMID:2793865|PMID:27978498|PMID:28181551|PMID:28388263|PMID:28468868|PMID:28492532|PMID:2916581|PMID:29654911|PMID:29757052|PMID:30366948|PMID:30957963|PMID:31456290|PMID:3170546|PMID:33090715|PMID:3339136|PMID:3375240|PMID:3417397|PMID:34395527|PMID:7668253|PMID:7887415|PMID:8125717|PMID:8281144|PMID:8430317|PMID:8670789|PMID:9536098 11733800 OAT ornithine aminotransferase gene DOID:5723 optic atrophy ISO RGD:1350711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868 11733800 OAT ornithine aminotransferase gene DOID:630 genetic disease ISO RGD:1350711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11733800 OAT ornithine aminotransferase gene DOID:8501 fundus dystrophy ISO RGD:1350711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:1609808|PMID:16199547|PMID:1737786|PMID:22674428|PMID:23076989|PMID:25741868|PMID:28492532|PMID:3339136 11733800 OAT ornithine aminotransferase gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1350711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 11733800 OAT ornithine aminotransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11733800 OAT ornithine aminotransferase gene DOID:9007188 Liver Neoplasms ISO RGD:1350711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 11733818 CTXN2 cortexin 2 gene DOID:14323 Marfan syndrome ISO RGD:1351200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:21063442|PMID:25741868|PMID:26787436|PMID:28492532 11733818 CTXN2 cortexin 2 gene DOID:2717 Bloom syndrome ISO RGD:1351200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11733818 CTXN2 cortexin 2 gene DOID:630 genetic disease ISO RGD:1351200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733818 CTXN2 cortexin 2 gene DOID:9256 colorectal cancer ISO RGD:1351200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 11733834 PLAC1 placenta enriched 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11733834 PLAC1 placenta enriched 1 gene DOID:12849 autistic disorder ISO RGD:1351974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11733834 PLAC1 placenta enriched 1 gene DOID:630 genetic disease ISO RGD:1351974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733854 CCL18 C-C motif chemokine ligand 18 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1345851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:24088041|PMID:26633545 11733854 CCL18 C-C motif chemokine ligand 18 gene DOID:630 genetic disease ISO RGD:1345851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733854 CCL18 C-C motif chemokine ligand 18 gene DOID:9005172 Lung Neoplasms ISO RGD:1345851 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23349697 11733854 CCL18 C-C motif chemokine ligand 18 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1345851 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23349697 11733865 BRF1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:0050871 fibroma ISO RGD:1311158 D RGD:9068941 20200609 RGD PMID:18456653|REF_RGD_ID:9586716 11733865 BRF1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:0080446 developmental and epileptic encephalopathy 66 ISO RGD:1322467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 66 PMID:25741868 11733865 BRF1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:0080898 cerebellofaciodental syndrome ISO RGD:1322467 D RGD:7240710 20180130 OMIM 11733865 BRF1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:0080898 cerebellofaciodental syndrome ISO RGD:1322467 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome PMID:25561519|PMID:25741868|PMID:27748960|PMID:28492532 11733865 BRF1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1322467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11733865 BRF1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1322467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 11733865 BRF1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:10003 sensorineural hearing loss ISO RGD:1322467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 11733865 BRF1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:1059 intellectual disability ISO RGD:1322467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11733865 BRF1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:630 genetic disease ISO RGD:1322467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25561519|PMID:25741868|PMID:28492532|PMID:33645901 11733865 BRF1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:9003936 Cardiomegaly ISO RGD:1322468 D RGD:9068941 20200609 RGD PMID:18420946|REF_RGD_ID:9686423 11733865 BRF1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:9008939 Breast Neoplasms ISO RGD:1322467 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:32198086 11733865 BRF1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:9256 colorectal cancer ISO RGD:1322467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 11733908 NCOA1 nuclear receptor coactivator 1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1319167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 11733908 NCOA1 nuclear receptor coactivator 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1319167 D RGD:9068941 20200609 RGD PMID:14871982|REF_RGD_ID:2293530 11733908 NCOA1 nuclear receptor coactivator 1 gene DOID:11633 thyroid hormone resistance syndrome ISO RGD:1319168 D RGD:9068941 20220825 MouseDO OMIM:188570 | OMIM:274300 11733908 NCOA1 nuclear receptor coactivator 1 gene DOID:1459 hypothyroidism ISO RGD:1309046 D RGD:9068941 20200609 RGD mRNA:altered expression:brain PMID:11850121|REF_RGD_ID:2306463 11733908 NCOA1 nuclear receptor coactivator 1 gene DOID:2871 endometrial carcinoma ISO RGD:1319167 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:14751175|REF_RGD_ID:2298984 11733908 NCOA1 nuclear receptor coactivator 1 gene DOID:289 endometriosis ISO RGD:1319167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 11733908 NCOA1 nuclear receptor coactivator 1 gene DOID:3459 breast carcinoma severity ISO RGD:1319167 D RGD:9068941 20200609 RGD PMID:17902051|REF_RGD_ID:2293529 11733908 NCOA1 nuclear receptor coactivator 1 gene DOID:630 genetic disease ISO RGD:1319167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733908 NCOA1 nuclear receptor coactivator 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1319167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21080969 11733908 NCOA1 nuclear receptor coactivator 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12237244 11733908 NCOA1 nuclear receptor coactivator 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1319167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21080969 11733908 NCOA1 nuclear receptor coactivator 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1319167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20332317 11733908 NCOA1 nuclear receptor coactivator 1 gene DOID:9970 obesity ISO RGD:1319168 D RGD:9068941 20220825 MouseDO OMIM:601665 11733999 NKX2-6 NK2 homeobox 6 gene DOID:0050650 familial atrial fibrillation susceptibility ISO RGD:1603362 D RGD:9068941 20230128 RGD DNA:missense mutation:CDS:p.Q175H (human) PMID:25319568|REF_RGD_ID:155882443 11733999 NKX2-6 NK2 homeobox 6 gene DOID:13938 amenorrhea ISO RGD:1603362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11733999 NKX2-6 NK2 homeobox 6 gene DOID:1657 ventricular septal defect susceptibility ISO RGD:1603362 D RGD:9068941 20230128 RGD DNA:missense mutation:CDS:p.K152Q (human) PMID:25380965|REF_RGD_ID:155882444 11733999 NKX2-6 NK2 homeobox 6 gene DOID:1969 cerebral palsy ISO RGD:1603362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 11733999 NKX2-6 NK2 homeobox 6 gene DOID:630 genetic disease ISO RGD:1603362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11733999 NKX2-6 NK2 homeobox 6 gene DOID:9003752 Persistent Truncus Arteriosus ISO RGD:1603362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Persistent truncus arteriosus PMID:15649947 11733999 NKX2-6 NK2 homeobox 6 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1603362 D RGD:7240710 20180530 OMIM 11733999 NKX2-6 NK2 homeobox 6 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1603362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:24421281|PMID:25741868|PMID:28492532 11734004 PAXIP1 PAX interacting protein 1 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1316804 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:23370340|PMID:24095820|PMID:28492532|PMID:29992659|PMID:31334757 11734004 PAXIP1 PAX interacting protein 1 gene DOID:12849 autistic disorder ISO RGD:1316804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11734004 PAXIP1 PAX interacting protein 1 gene DOID:630 genetic disease ISO RGD:1316804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11734029 RUBCN rubicon autophagy regulator gene DOID:0080057 autosomal recessive spinocerebellar ataxia 15 ISO RGD:1353596 D RGD:7240710 20180130 OMIM 11734029 RUBCN rubicon autophagy regulator gene DOID:0080057 autosomal recessive spinocerebellar ataxia 15 ISO RGD:1353596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 15 PMID:20826435|PMID:23728897|PMID:25741868|PMID:28492532|PMID:30237576|PMID:32450808 11734029 RUBCN rubicon autophagy regulator gene DOID:630 genetic disease ISO RGD:1353596 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11734029 RUBCN rubicon autophagy regulator gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1353596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11734029 RUBCN rubicon autophagy regulator gene DOID:9008086 Developmental Disabilities ISO RGD:1353596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11734029 RUBCN rubicon autophagy regulator gene DOID:9074 systemic lupus erythematosus ISO RGD:1313444 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 11734064 COPS9 COP9 signalosome subunit 9 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1601821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11734064 COPS9 COP9 signalosome subunit 9 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1601821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11734064 COPS9 COP9 signalosome subunit 9 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1601821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 11734064 COPS9 COP9 signalosome subunit 9 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1601821 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11734064 COPS9 COP9 signalosome subunit 9 gene DOID:1059 intellectual disability ISO RGD:1601821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11734064 COPS9 COP9 signalosome subunit 9 gene DOID:630 genetic disease ISO RGD:1601821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11734064 COPS9 COP9 signalosome subunit 9 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1601821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11734078 CHMP1A charged multivesicular body protein 1A gene DOID:0060265 pontocerebellar hypoplasia type 1A ISO RGD:1346526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1A PMID:25741868 11734078 CHMP1A charged multivesicular body protein 1A gene DOID:0060277 pontocerebellar hypoplasia type 8 ISO RGD:1346526 D RGD:7240710 20180130 OMIM 11734078 CHMP1A charged multivesicular body protein 1A gene DOID:0060277 pontocerebellar hypoplasia type 8 ISO RGD:1346526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 8 PMID:18414213|PMID:23023333|PMID:25741868|PMID:28492532 11734078 CHMP1A charged multivesicular body protein 1A gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1346526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 11734078 CHMP1A charged multivesicular body protein 1A gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1346526 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11734078 CHMP1A charged multivesicular body protein 1A gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1346526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:23613520 11734078 CHMP1A charged multivesicular body protein 1A gene DOID:1059 intellectual disability ISO RGD:1346526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11734078 CHMP1A charged multivesicular body protein 1A gene DOID:13636 Fanconi anemia ISO RGD:1346526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 11734078 CHMP1A charged multivesicular body protein 1A gene DOID:14780 KBG syndrome ISO RGD:1346526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 11734078 CHMP1A charged multivesicular body protein 1A gene DOID:630 genetic disease ISO RGD:1346526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:34148545 11734090 PSMC5 proteasome 26S subunit, ATPase 5 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:732741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 11734090 PSMC5 proteasome 26S subunit, ATPase 5 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:732741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11734090 PSMC5 proteasome 26S subunit, ATPase 5 gene DOID:630 genetic disease ISO RGD:732741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11734110 GGH gamma-glutamyl hydrolase gene DOID:0080600 COVID-19 ISO RGD:735324 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11734110 GGH gamma-glutamyl hydrolase gene DOID:11054 urinary bladder cancer ISO RGD:735324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19815704 11734110 GGH gamma-glutamyl hydrolase gene DOID:2671 transitional cell carcinoma ISO RGD:735324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19815704 11734110 GGH gamma-glutamyl hydrolase gene DOID:630 genetic disease ISO RGD:735324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11734110 GGH gamma-glutamyl hydrolase gene DOID:7148 rheumatoid arthritis ISO RGD:735324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 11734110 GGH gamma-glutamyl hydrolase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11734110 GGH gamma-glutamyl hydrolase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21219404 11734110 GGH gamma-glutamyl hydrolase gene DOID:9008443 Colorectal Neoplasms ISO RGD:735324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 11734123 PIR pirin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11734123 PIR pirin gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1342511 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 11734123 PIR pirin gene DOID:12849 autistic disorder ISO RGD:1342511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11734123 PIR pirin gene DOID:13636 Fanconi anemia ISO RGD:1342511 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 11734123 PIR pirin gene DOID:2773 contact dermatitis ISO RGD:1342511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11734123 PIR pirin gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1342511 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 11734123 PIR pirin gene DOID:630 genetic disease ISO RGD:1342511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11734123 PIR pirin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11734146 LOC100969852 putative inactive deoxyuridine 5'-triphosphate nucleotidohydrolase-like protein FLJ16323 gene DOID:630 genetic disease ISO RGD:16567992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11734155 ATP5F1C ATP synthase F1 subunit gamma gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:732616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11734155 ATP5F1C ATP synthase F1 subunit gamma gene DOID:0080600 COVID-19 ISO RGD:732616 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11734155 ATP5F1C ATP synthase F1 subunit gamma gene DOID:5419 schizophrenia ISO RGD:620011 D RGD:9068941 20210806 RGD mRNA:increased expression:prefrontal cortex (rat) PMID:30142370|REF_RGD_ID:13792655 11734155 ATP5F1C ATP synthase F1 subunit gamma gene DOID:9970 obesity ISO RGD:732616 D RGD:9068941 20200609 RGD PMID:19549744|REF_RGD_ID:14696798 11734176 TMEM167B transmembrane protein 167B gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1604335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11734176 TMEM167B transmembrane protein 167B gene DOID:12849 autistic disorder ISO RGD:1604335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11734183 PLEKHB1 pleckstrin homology domain containing B1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1343334 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11734183 PLEKHB1 pleckstrin homology domain containing B1 gene DOID:1059 intellectual disability ISO RGD:1343334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11734183 PLEKHB1 pleckstrin homology domain containing B1 gene DOID:630 genetic disease ISO RGD:1343334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11734183 PLEKHB1 pleckstrin homology domain containing B1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11734213 PRPF40A pre-mRNA processing factor 40 homolog A gene DOID:630 genetic disease ISO RGD:1322844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11734245 COPZ2 COPI coat complex subunit zeta 2 gene DOID:630 genetic disease ISO RGD:1315851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11734262 ZNF467 zinc finger protein 467 gene DOID:630 genetic disease ISO RGD:1350118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:0060642 recessive dystrophic epidermolysis bullosa ISO RGD:1322869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive | ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa PMID:10084325|PMID:10367729|PMID:10383749|PMID:10408773|PMID:10469344|PMID:1050445|PMID:10504458|PMID:10583163|PMID:10836608|PMID:10944088|PMID:11000732|PMID:11167698|PMID:11378329|PMID:11722462|PMID:11781296|PMID:11843659|PMID:11874498|PMID:12207583|PMID:12485454|PMID:12653705|PMID:12735646|PMID:12787275|PMID:12813757|PMID:15816848|PMID:15888141|PMID:16189623|PMID:16199547|PMID:16271705|PMID:16439963|PMID:16484981|PMID:16965329|PMID:16971478|PMID:17425959|PMID:17495952|PMID:17501948|PMID:17576681|PMID:17916216|PMID:18030675|PMID:18414213|PMID:18429782|PMID:18440202|PMID:18450758|PMID:18558993|PMID:18565177|PMID:18951764|PMID:19344236|PMID:19439919|PMID:19643583|PMID:19665875|PMID:19681861|PMID:19694003|PMID:19694005|PMID:20184583|PMID:20357813|PMID:20555349|PMID:20598510|PMID:20920254|PMID:21113014|PMID:21124339|PMID:21382783|PMID:21448560|PMID:21471992|PMID:22058051|PMID:22209565|PMID:22266148|PMID:23237810|PMID:23786535|PMID:23947675|PMID:24032424|PMID:24033266|PMID:24210835|PMID:24213372|PMID:24252097|PMID:24279917|PMID:24317394|PMID:24599399|PMID:24947307|PMID:25155989|PMID:25525159|PMID:25741868|PMID:26076072|PMID:26102279|PMID:26143532|PMID:26148662|PMID:26446410|PMID:26467025|PMID:26707537|PMID:26763448|PMID:26833212|PMID:26864810|PMID:27153395|PMID:27408687|PMID:27544590|PMID:27746867|PMID:27899325|PMID:28492532|PMID:28830826|PMID:29130490|PMID:29334134|PMID:29473190|PMID:29500833|PMID:29512197|PMID:29531004|PMID:30280950|PMID:31001817|PMID:31634165|PMID:31670143|PMID:31786163|PMID:31930626|PMID:32484238|PMID:32860008|PMID:33274474|PMID:33502061|PMID:35979658|PMID:7577595|PMID:7695699|PMID:7833933|PMID:7883979|PMID:8037207|PMID:8088783|PMID:8218237|PMID:8345225|PMID:8513326|PMID:8592061|PMID:8618004|PMID:8644729|PMID:8644730|PMID:8755915|PMID:8900535|PMID:9215684|PMID:9242516|PMID:9326325|PMID:9347800|PMID:9536098|PMID:9666834|PMID:9668111|PMID:9740253|PMID:9804332|PMID:9856844|PMID:9881948 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:0080082 nonsyndromic congenital nail disorder 4 ISO RGD:1322869 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Anonychia PMID:10408773|PMID:11781296|PMID:12485454|PMID:12787275|PMID:15888141|PMID:16965329|PMID:16971478|PMID:19681861|PMID:20598510|PMID:22266148|PMID:24033266|PMID:25741868|PMID:26076072|PMID:26148662|PMID:28492532|PMID:35979658|PMID:8755915|PMID:9881948 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:0080086 nonsyndromic congenital nail disorder 8 ISO RGD:1322869 D RGD:7240710 20180130 OMIM 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:0080086 nonsyndromic congenital nail disorder 8 ISO RGD:1322869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 8 | ClinVar Annotator: match by term: TOENAIL DYSTROPHY, ISOLATED PMID:10408773|PMID:10469344|PMID:10836608|PMID:11781296|PMID:11843659|PMID:12485454|PMID:12735646|PMID:12787275|PMID:15888141|PMID:16965329|PMID:16971478|PMID:17434045|PMID:18429782|PMID:19344236|PMID:19665875|PMID:19681861|PMID:20598510|PMID:22058051|PMID:22266148|PMID:24033266|PMID:25741868|PMID:26076072|PMID:26148662|PMID:26467025|PMID:28492532|PMID:28830826|PMID:30280950|PMID:32860008|PMID:35979658|PMID:7577595|PMID:7695699|PMID:8218237|PMID:8755915|PMID:9856844|PMID:9881948 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:0080224 autosomal dominant dystrophic epidermolysis bullosa ISO RGD:1322869 D RGD:7240710 20180130 OMIM 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:0080224 autosomal dominant dystrophic epidermolysis bullosa ISO RGD:1322869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal dominant PMID:10084325|PMID:10232408|PMID:10233777|PMID:10408773|PMID:10469344|PMID:10504458|PMID:10836608|PMID:11781296|PMID:11874498|PMID:11952672|PMID:12485454|PMID:12735646|PMID:12787275|PMID:14616374|PMID:15888141|PMID:16189623|PMID:16484981|PMID:16557343|PMID:1680286|PMID:16965329|PMID:16971478|PMID:17336503|PMID:17425959|PMID:17576681|PMID:18429782|PMID:19197535|PMID:19344236|PMID:19665875|PMID:19681861|PMID:20598510|PMID:21448560|PMID:22058051|PMID:22266148|PMID:24033266|PMID:24794830|PMID:25741868|PMID:26076072|PMID:26148662|PMID:26467025|PMID:28492532|PMID:28830826|PMID:30280950|PMID:32860008|PMID:35979658|PMID:7577595|PMID:7695699|PMID:7861014|PMID:8170945|PMID:8218237|PMID:8288900|PMID:8345225|PMID:8644729|PMID:8755915|PMID:9215684|PMID:9347800|PMID:9536098|PMID:9668111|PMID:9856843|PMID:9856844|PMID:9881948|PMID:9892921 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:0080988 pretibial dystrophic epidermolysis bullosa ISO RGD:1322869 D RGD:7240710 20180130 OMIM 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:0080988 pretibial dystrophic epidermolysis bullosa ISO RGD:1322869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, pretibial, autosomal recessive | ClinVar Annotator: match by term: Pretibial dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: Pretibial epidermolysis bullosa PMID:10408773|PMID:10504458|PMID:10583163|PMID:10836608|PMID:11781296|PMID:12485454|PMID:12787275|PMID:15888141|PMID:16965329|PMID:16971478|PMID:17425959|PMID:18429782|PMID:19344236|PMID:19665875|PMID:19681861|PMID:20357813|PMID:20598510|PMID:21471992|PMID:22058051|PMID:22266148|PMID:24032424|PMID:24033266|PMID:24794830|PMID:24947307|PMID:25741868|PMID:26076072|PMID:26102279|PMID:26148662|PMID:26467025|PMID:26763448|PMID:26864810|PMID:28492532|PMID:28830826|PMID:30280950|PMID:32860008|PMID:35979658|PMID:7695699|PMID:7833933|PMID:7861014|PMID:8218237|PMID:8541842|PMID:8755915|PMID:8900535|PMID:9215684|PMID:9242516|PMID:9326325|PMID:9881948|PMID:9892921 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:0111345 transient bullous dermolysis of the newborn ISO RGD:1322869 D RGD:7240710 20180130 OMIM 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:0111345 transient bullous dermolysis of the newborn ISO RGD:1322869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, dominant neonatal form | ClinVar Annotator: match by term: Transient bullous dermolysis of the newborn PMID:10084325|PMID:10408773|PMID:10504458|PMID:10836608|PMID:11781296|PMID:12207583|PMID:12485454|PMID:12787275|PMID:15888141|PMID:16189623|PMID:16199547|PMID:16225626|PMID:16271705|PMID:16965329|PMID:16971478|PMID:17434045|PMID:17501948|PMID:18429782|PMID:19344236|PMID:19665875|PMID:19681861|PMID:20184583|PMID:20598510|PMID:21448560|PMID:22058051|PMID:22209565|PMID:22266148|PMID:23786535|PMID:24033266|PMID:24317394|PMID:24533879|PMID:24599399|PMID:25741868|PMID:26076072|PMID:26148662|PMID:26467025|PMID:2653224|PMID:28492532|PMID:28830826|PMID:30280950|PMID:31001817|PMID:31670143|PMID:32484238|PMID:32860008|PMID:35979658|PMID:7695699|PMID:8218237|PMID:8755915|PMID:9326325|PMID:9406826|PMID:9740253|PMID:9856844|PMID:9881948 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:0111347 epidermolysis bullosa with congenital localized absence of skin and deformity of nails ISO RGD:1322869 D RGD:7240710 20180130 OMIM 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:0111347 epidermolysis bullosa with congenital localized absence of skin and deformity of nails ISO RGD:1322869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE PMID:10408773|PMID:10836608|PMID:11710955|PMID:11781296|PMID:11843659|PMID:12485454|PMID:12787275|PMID:15888141|PMID:16965329|PMID:16971478|PMID:18429782|PMID:19344236|PMID:19665875|PMID:19681861|PMID:20598510|PMID:22058051|PMID:22266148|PMID:24033266|PMID:2425097|PMID:25741868|PMID:26076072|PMID:26148662|PMID:26467025|PMID:28492532|PMID:28830826|PMID:29963685|PMID:30280950|PMID:32860008|PMID:35979658|PMID:5910871|PMID:7695699|PMID:8218237|PMID:8618021|PMID:8752681|PMID:8755915|PMID:9881948 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:10907 microcephaly ISO RGD:1322869 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:12787275|PMID:22266148|PMID:25741868|PMID:28492532|PMID:28830826|PMID:32860008|PMID:35979658 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:11720 distal myopathy ISO RGD:1322869 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type PMID:12787275|PMID:22266148|PMID:25741868|PMID:28492532|PMID:28830826|PMID:32860008|PMID:35979658 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:2187 amelogenesis imperfecta ISO RGD:1322869 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 PMID:16484981|PMID:25741868|PMID:28492532 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:3908 lung non-small cell carcinoma ISO RGD:1322869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30381462 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:4603 epidermolytic hyperkeratosis ISO RGD:1322869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma PMID:28492532 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:4959 epidermolysis bullosa dystrophica ISO RGD:1322869 D RGD:7240710 20180130 OMIM 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:4959 epidermolysis bullosa dystrophica ISO RGD:1322869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica | ClinVar Annotator: match by term: Hallopeau-Siemens Disease PMID:10084325|PMID:10383749|PMID:10408773|PMID:10469344|PMID:10504458|PMID:10836608|PMID:10944088|PMID:10980546|PMID:11167698|PMID:11710955|PMID:11781296|PMID:11843659|PMID:11874498|PMID:12207583|PMID:12485454|PMID:12653705|PMID:12735646|PMID:12787275|PMID:12813757|PMID:15550148|PMID:15816848|PMID:15888141|PMID:16189623|PMID:16199547|PMID:16271705|PMID:16439963|PMID:16484981|PMID:16500083|PMID:16965329|PMID:16971478|PMID:17282977|PMID:17425959|PMID:17495952|PMID:17501948|PMID:17576681|PMID:17916216|PMID:18030675|PMID:18414213|PMID:18429782|PMID:18440202|PMID:18450758|PMID:18558993|PMID:18565177|PMID:18951764|PMID:19344236|PMID:19439919|PMID:19665875|PMID:19681861|PMID:19694003|PMID:19694005|PMID:19726672|PMID:19814614|PMID:20108398|PMID:20108428|PMID:20184583|PMID:20357813|PMID:20585476|PMID:20598510|PMID:20920254|PMID:21124339|PMID:21448560|PMID:21471992|PMID:22058051|PMID:22070715|PMID:22209565|PMID:22266148|PMID:23237810|PMID:23786535|PMID:23947675|PMID:24032424|PMID:24033266|PMID:24210835|PMID:2425097|PMID:24252097|PMID:24279917|PMID:24577406|PMID:24794830|PMID:24831336|PMID:24947307|PMID:25155989|PMID:25525159|PMID:25556825|PMID:25741868|PMID:25819062|PMID:25913354|PMID:26076072|PMID:26102279|PMID:26148662|PMID:26467025|PMID:26763448|PMID:26864810|PMID:27153395|PMID:27544590|PMID:27746867|PMID:27899325|PMID:28492532|PMID:28830826|PMID:28853495|PMID:29130490|PMID:29334134|PMID:29427316|PMID:29473190|PMID:29500833|PMID:29963685|PMID:30280950|PMID:31001817|PMID:31090061|PMID:31930626|PMID:32484238|PMID:32860008|PMID:33274474|PMID:34046686|PMID:35979658|PMID:5910871|PMID:7577595|PMID:7695699|PMID:7833933|PMID:7861014|PMID:8037207|PMID:8088783|PMID:8218237|PMID:8345225|PMID:8618004|PMID:8618018|PMID:8618021|PMID:8644729|PMID:8644730|PMID:8752681|PMID:8755915|PMID:8900535|PMID:9042157|PMID:9242516|PMID:9326325|PMID:9347800|PMID:9536098|PMID:9666834|PMID:9668111|PMID:9740253|PMID:9804332|PMID:9856844|PMID:9881948|PMID:9892921 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:4959 epidermolysis bullosa dystrophica susceptibility ISO RGD:1322869 D RGD:9068941 20200609 RGD DNA:insertion-deletion PMID:8275094|REF_RGD_ID:1600946 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:630 genetic disease ISO RGD:1322869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10504458|PMID:11710955|PMID:16971478|PMID:17425959|PMID:18414213|PMID:19344236|PMID:20920254|PMID:21448560|PMID:22058051|PMID:23786535|PMID:23947675|PMID:2425097|PMID:24252097|PMID:25741868|PMID:28492532|PMID:29963685|PMID:35979658|PMID:5910871|PMID:7695699|PMID:8218237|PMID:8618021|PMID:8752681|PMID:9326325 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:687 hepatoblastoma ISO RGD:1322869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:9000918 Disease Progression ISO RGD:1322869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30381462 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:9001276 Failure to Thrive ISO RGD:1322869 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:12787275|PMID:22266148|PMID:25741868|PMID:28492532|PMID:28830826|PMID:32860008|PMID:35979658 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1322869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1322869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:9003984 Hyperpigmentation ISO RGD:1322869 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hyperpigmentation PMID:12787275|PMID:22266148|PMID:25741868|PMID:28492532|PMID:28830826|PMID:32860008|PMID:35979658 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:9004739 Cicatrix ISO RGD:1322869 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Scarring PMID:12787275|PMID:22266148|PMID:25741868|PMID:28492532|PMID:28830826|PMID:32860008|PMID:35979658 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:9005879 Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant ISO RGD:1322869 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant PMID:10408773|PMID:10504458|PMID:11781296|PMID:12485454|PMID:12787275|PMID:15888141|PMID:16271705|PMID:16484981|PMID:16965329|PMID:16971478|PMID:17576681|PMID:18565177|PMID:19344236|PMID:19681861|PMID:20598510|PMID:22058051|PMID:22266148|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31001817|PMID:31930626|PMID:35979658|PMID:7695699|PMID:8218237|PMID:8755915|PMID:9536098|PMID:9804332 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:9006711 Epidermolysis Bullosa Pruriginosa ISO RGD:1322869 D RGD:7240710 20180130 OMIM 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:9006711 Epidermolysis Bullosa Pruriginosa ISO RGD:1322869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal dominant | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal recessive PMID:10367729|PMID:10383749|PMID:10408773|PMID:10504458|PMID:10836608|PMID:11781296|PMID:12485454|PMID:12787275|PMID:15888141|PMID:16199547|PMID:16271705|PMID:16965329|PMID:16971478|PMID:17434045|PMID:17576681|PMID:18429782|PMID:19344236|PMID:19665875|PMID:19681861|PMID:20598510|PMID:21448560|PMID:22058051|PMID:22209565|PMID:22266148|PMID:24033266|PMID:25741868|PMID:26076072|PMID:26148662|PMID:26467025|PMID:27899325|PMID:28492532|PMID:28830826|PMID:30280950|PMID:32484238|PMID:32860008|PMID:35979658|PMID:7695699|PMID:8218237|PMID:8755915|PMID:9182828|PMID:9242516|PMID:9326325|PMID:9536098|PMID:9718359|PMID:9856844|PMID:9881948 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:9007661 Dwarfism ISO RGD:1322869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Short stature PMID:12787275|PMID:16971478|PMID:22266148|PMID:25741868|PMID:26076072|PMID:26148662|PMID:28492532|PMID:28830826|PMID:32860008|PMID:35979658|PMID:8037207|PMID:9881948 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:9008443 Colorectal Neoplasms ISO RGD:1322869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 11734275 COL7A1 collagen type VII alpha 1 chain gene DOID:9008939 Breast Neoplasms ISO RGD:1322869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 11734397 LOC100977910 myosin regulatory light chain 12B gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1601728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11734397 LOC100977910 myosin regulatory light chain 12B gene DOID:0110880 holoprosencephaly 4 ISO RGD:1601728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 4 PMID:16199538|PMID:16962354|PMID:17001671|PMID:19431187|PMID:22125506|PMID:28492532 11734397 LOC100977910 myosin regulatory light chain 12B gene DOID:1059 intellectual disability ISO RGD:1601728 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11734397 LOC100977910 myosin regulatory light chain 12B gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1601728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 11734397 LOC100977910 myosin regulatory light chain 12B gene DOID:630 genetic disease ISO RGD:1601728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11734397 LOC100977910 myosin regulatory light chain 12B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11734397 LOC100977910 myosin regulatory light chain 12B gene DOID:9005523 Majeed Syndrome ISO RGD:1601728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Majeed syndrome PMID:28492532 11734405 SNX25 sorting nexin 25 gene DOID:12849 autistic disorder ISO RGD:1320883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11734405 SNX25 sorting nexin 25 gene DOID:12930 dilated cardiomyopathy ISO RGD:1320883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 11734405 SNX25 sorting nexin 25 gene DOID:630 genetic disease ISO RGD:1320883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11734405 SNX25 sorting nexin 25 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1320883 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 11734433 CDC45 cell division cycle 45 gene DOID:0060041 autism spectrum disorder ISO RGD:1352573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11734433 CDC45 cell division cycle 45 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1352573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11734433 CDC45 cell division cycle 45 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1352573 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 11734433 CDC45 cell division cycle 45 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1352573 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 11734433 CDC45 cell division cycle 45 gene DOID:0080512 Meier-Gorlin syndrome 1 ISO RGD:1352573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 PMID:25741868|PMID:28492532|PMID:31474763 11734433 CDC45 cell division cycle 45 gene DOID:0080518 Meier-Gorlin syndrome 7 ISO RGD:1352573 D RGD:7240710 20190424 OMIM 11734433 CDC45 cell division cycle 45 gene DOID:0080518 Meier-Gorlin syndrome 7 ISO RGD:1352573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 7 PMID:25741868|PMID:27374770|PMID:28492532|PMID:29036220|PMID:30986546 11734433 CDC45 cell division cycle 45 gene DOID:0080600 COVID-19 ISO RGD:1352573 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11734433 CDC45 cell division cycle 45 gene DOID:0111996 immunodeficiency 51 ISO RGD:1352573 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11734433 CDC45 cell division cycle 45 gene DOID:1059 intellectual disability ISO RGD:1352573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11734433 CDC45 cell division cycle 45 gene DOID:10907 microcephaly ISO RGD:1352573 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11734433 CDC45 cell division cycle 45 gene DOID:11198 DiGeorge syndrome ISO RGD:1352573 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 11734433 CDC45 cell division cycle 45 gene DOID:11372 megacolon ISO RGD:1352573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11734433 CDC45 cell division cycle 45 gene DOID:12583 velocardiofacial syndrome ISO RGD:1352573 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 11734433 CDC45 cell division cycle 45 gene DOID:12849 autistic disorder ISO RGD:1352573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11734433 CDC45 cell division cycle 45 gene DOID:1826 epilepsy ISO RGD:1352573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11734433 CDC45 cell division cycle 45 gene DOID:5419 schizophrenia ISO RGD:1352573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11734433 CDC45 cell division cycle 45 gene DOID:612 primary immunodeficiency disease ISO RGD:1352573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11734433 CDC45 cell division cycle 45 gene DOID:630 genetic disease ISO RGD:1352573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 11734433 CDC45 cell division cycle 45 gene DOID:684 hepatocellular carcinoma ISO RGD:1352573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11734433 CDC45 cell division cycle 45 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11734433 CDC45 cell division cycle 45 gene DOID:9007661 Dwarfism ISO RGD:1352573 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11734433 CDC45 cell division cycle 45 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1352573 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11734474 UPK1A uroplakin 1A gene DOID:0110222 Brugada syndrome 5 ISO RGD:1320413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11734474 UPK1A uroplakin 1A gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1320413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11734474 UPK1A uroplakin 1A gene DOID:543 dystonia ISO RGD:1320413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11734474 UPK1A uroplakin 1A gene DOID:630 genetic disease ISO RGD:1320413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11734484 CD300LD-AS1 CD300LD antisense RNA 1 gene DOID:630 genetic disease ISO RGD:1603896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11734494 THPO thrombopoietin gene DOID:0050700 cardiomyopathy ISO RGD:1351706 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16651473 11734494 THPO thrombopoietin gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1351706 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11734494 THPO thrombopoietin gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1351706 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11734494 THPO thrombopoietin gene DOID:0111546 Currarino syndrome ISO RGD:1351706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11734494 THPO thrombopoietin gene DOID:12449 aplastic anemia ISO RGD:1351706 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.112C>T(human) PMID:24085763|REF_RGD_ID:11073680 11734494 THPO thrombopoietin gene DOID:12449 aplastic anemia no_association ISO RGD:1351706 D RGD:9068941 20200609 RGD DNA:SNPs:exons: PMID:22686250|REF_RGD_ID:11073679 11734494 THPO thrombopoietin gene DOID:14115 toxic shock syndrome ISO RGD:1351706 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:20467749|REF_RGD_ID:10449021 11734494 THPO thrombopoietin gene DOID:1588 thrombocytopenia ISO RGD:1351706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28466964|PMID:31064749|PMID:32150607 11734494 THPO thrombopoietin gene DOID:2213 hemorrhagic disease ISO RGD:1351706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 11734494 THPO thrombopoietin gene DOID:2224 essential thrombocythemia ISO RGD:1351706 D RGD:7240710 20180130 OMIM 11734494 THPO thrombopoietin gene DOID:2224 essential thrombocythemia ISO RGD:1351706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 PMID:10583217|PMID:19553636|PMID:22194398|PMID:25741868|PMID:28492532|PMID:28955303|PMID:32430933|PMID:7772529|PMID:9425899|PMID:9694695 11734494 THPO thrombopoietin gene DOID:2228 thrombocytosis ISO RGD:1351706 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:15813844|PMID:33122006 11734494 THPO thrombopoietin gene DOID:2228 thrombocytosis susceptibility ISO RGD:1351706 D RGD:9068941 20200609 RGD DNA:deletion:5' utr PMID:9694695|REF_RGD_ID:1601655 11734494 THPO thrombopoietin gene DOID:5082 liver cirrhosis ISO RGD:1351706 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:9794189|REF_RGD_ID:1580082 11734494 THPO thrombopoietin gene DOID:5160 arteriosclerosis obliterans ISO RGD:1351706 D RGD:9068941 20200609 RGD PMID:10822072|REF_RGD_ID:1601656 11734494 THPO thrombopoietin gene DOID:630 genetic disease ISO RGD:1351706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24085763|PMID:28492532|PMID:29191945 11734494 THPO thrombopoietin gene DOID:6432 pulmonary hypertension ISO RGD:1351706 D RGD:9068941 20200609 RGD protein:increased expression:pulmonary artery, plasma PMID:12487786|REF_RGD_ID:1580087 11734494 THPO thrombopoietin gene DOID:9007096 Stroke ISO RGD:1351706 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:18367486|PMID:25741868 11734494 THPO thrombopoietin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351706 D RGD:9068941 20210416 CTD CTD Direct Evidence: therapeutic PMID:33122006 11734511 GPR37 G protein-coupled receptor 37 gene DOID:12217 Lewy body dementia ISO RGD:735262 D RGD:9068941 20200609 RGD PMID:14991825|REF_RGD_ID:13504666 11734511 GPR37 G protein-coupled receptor 37 gene DOID:14330 Parkinson's disease ISO RGD:735262 D RGD:9068941 20200609 RGD PMID:14991825|REF_RGD_ID:13504666 11734511 GPR37 G protein-coupled receptor 37 gene DOID:1790 malignant mesothelioma ISO RGD:735262 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 11734511 GPR37 G protein-coupled receptor 37 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11734511 GPR37 G protein-coupled receptor 37 gene DOID:630 genetic disease ISO RGD:735262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11734517 TBC1D23 TBC1 domain family member 23 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1601860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:28823707 11734517 TBC1D23 TBC1 domain family member 23 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1601860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:28823707 11734517 TBC1D23 TBC1 domain family member 23 gene DOID:0112324 pontocerebellar hypoplasia type 11 ISO RGD:1601860 D RGD:7240710 20190315 OMIM 11734517 TBC1D23 TBC1 domain family member 23 gene DOID:0112324 pontocerebellar hypoplasia type 11 ISO RGD:1601860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 11 PMID:25741868|PMID:28823706|PMID:28823707 11734517 TBC1D23 TBC1 domain family member 23 gene DOID:630 genetic disease ISO RGD:1601860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11734543 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1321287 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 11734543 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia ISO RGD:1321287 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11734543 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia ISO RGD:1321287 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.D290V (human) PMID:23455423|REF_RGD_ID:10395280 11734543 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:0111384 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 ISO RGD:1321287 D RGD:7240710 20190315 OMIM 11734543 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:0111384 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 ISO RGD:1321287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 PMID:11891683|PMID:16199547|PMID:17576681|PMID:23455423|PMID:25741868|PMID:28389692|PMID:28492532|PMID:29358076|PMID:9536098 11734543 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:10652 Alzheimer's disease ISO RGD:1321287 D RGD:9068941 20200609 RGD protein:decreased expression:entorhinal cortex (human) PMID:22628224|REF_RGD_ID:9999191 11734543 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:224 transient cerebral ischemia ISO RGD:1310403 D RGD:9068941 20200609 RGD protein:altered expression:cerebral cortex, hippocampus (rat) PMID:20421594|REF_RGD_ID:10041006 11734543 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1321287 D RGD:9068941 20200609 RGD antibody 703D4 recognizes Hnrnpa2b1 protein (RGD:9685415);protein:increased expression:sputum (human) PMID:2846790|REF_RGD_ID:9685413 11734543 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11734543 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:4905 pancreatic carcinoma severity ISO RGD:1310403 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (rat) PMID:21472101|REF_RGD_ID:9587766 11734543 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:684 hepatocellular carcinoma ISO RGD:1310403 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:23633480|REF_RGD_ID:9685423 11734543 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:684 hepatocellular carcinoma ISO RGD:1321287 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:20604928|REF_RGD_ID:9685422 11734543 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:7148 rheumatoid arthritis severity ISO RGD:1310403 D RGD:9068941 20200609 RGD PMID:18025202|REF_RGD_ID:9685481 11734543 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1310403 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder (rat) PMID:18337374|REF_RGD_ID:9685410 11734543 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:9255 frontotemporal dementia ISO RGD:1321287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:23455423|PMID:25741868 11734576 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:1289 neurodegenerative disease ISO RGD:62199 D RGD:9068941 20200609 RGD DNA:deletion:exon: exons 5,6; males PMID:20467332|REF_RGD_ID:6482198 11734576 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:13580 cholestasis ISO RGD:1352469 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17256725 11734576 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:409 liver disease ISO RGD:62199 D RGD:9068941 20200609 RGD PMID:21815813|REF_RGD_ID:6480869 11734576 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:630 genetic disease ISO RGD:1352469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11734576 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1352469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 11734576 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:62199 D RGD:9068941 20200609 RGD DNA:deletion:exon:exons 5 and 6, estrogen dependent PMID:20679224|REF_RGD_ID:6482195 11734576 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:9002457 Experimental Arthritis ISO RGD:62199 D RGD:9068941 20200609 RGD PMID:21859686|REF_RGD_ID:6480864 11734576 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:62199 D RGD:9068941 20200609 RGD PMID:21266776|REF_RGD_ID:6480877 11734576 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:9005369 Hepatomegaly ISO RGD:1352469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 11734576 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352469 D RGD:9068941 20200609 RGD PMID:20939869|REF_RGD_ID:13506790 11734576 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:9970 obesity ISO RGD:1352469 D RGD:9068941 20200609 RGD PMID:20939869|REF_RGD_ID:13506790 11734576 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:9970 obesity ISO RGD:1352469 D RGD:9068941 20200609 RGD DNA:polymorphism:multiple PMID:17108812|REF_RGD_ID:1626248 11734576 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:9970 obesity disease_progression ISO RGD:61906 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:25612518|REF_RGD_ID:15045599 11734595 LCTL lactase like gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1602287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11734595 LCTL lactase like gene DOID:2717 Bloom syndrome ISO RGD:1602287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11734595 LCTL lactase like gene DOID:630 genetic disease ISO RGD:1602287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11734595 LCTL lactase like gene DOID:9256 colorectal cancer ISO RGD:1602287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731035 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:0110338 osteogenesis imperfecta type 17 ISO RGD:731035 D RGD:7240710 20180130 OMIM 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:0110338 osteogenesis imperfecta type 17 ISO RGD:731035 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 17 PMID:25741868|PMID:26027498|PMID:28492532 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:0111535 progressive osseous heteroplasia ISO RGD:731035 D RGD:9068941 20200609 RGD protein:increased expression:dermis: PMID:18422975|REF_RGD_ID:9068449 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:10976 membranous glomerulonephritis ISO RGD:3742 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:8943481|REF_RGD_ID:2300069 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:11054 urinary bladder cancer ISO RGD:731035 D RGD:9068941 20200609 RGD PMID:17149610|REF_RGD_ID:2300021 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:731035 D RGD:9068941 20200609 RGD PMID:11696817|REF_RGD_ID:2300024 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:11713 diabetic angiopathy ISO RGD:3742 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:mesentery, blood vessel PMID:10625572|REF_RGD_ID:2300063 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:12347 osteogenesis imperfecta ISO RGD:731035 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:28492532 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:1588 thrombocytopenia ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:182 calcinosis ISO RGD:731035 D RGD:9068941 20200609 RGD protein:increased expression:dermis: PMID:18422975|REF_RGD_ID:9068449 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:2152 ovary epithelial cancer ISO RGD:731035 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:stromal cell PMID:10502421|REF_RGD_ID:2300027 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:2237 hepatitis ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23408952 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:2871 endometrial carcinoma ISO RGD:731035 D RGD:9068941 20200609 RGD DNA, mRNA, protein:hypermethylation, altered expression PMID:17487382|REF_RGD_ID:2300020 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:2893 cervix carcinoma ISO RGD:731035 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:16434596|REF_RGD_ID:2300022 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:3742 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:8644857|REF_RGD_ID:2300070 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:3770 pulmonary fibrosis ISO RGD:11336 D RGD:9068941 20200619 RGD associated with Middle East respiratory syndrome;mRNA:increased expression:lung: PMID:31838832|REF_RGD_ID:30309204 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:3948 adrenocortical carcinoma ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22156929 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:4450 renal cell carcinoma ISO RGD:731035 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:11679940|REF_RGD_ID:2300025 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:4676 uremia ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:5082 liver cirrhosis ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23408952 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:5517 stomach carcinoma ISO RGD:3742 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach mucosa PMID:12359048|REF_RGD_ID:2300058 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:557 kidney disease ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12660331 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:5844 myocardial infarction ISO RGD:3742 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:12826287|REF_RGD_ID:2300056 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:630 genetic disease ISO RGD:731035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:90 degenerative disc disease ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20714283 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:9000039 Spinal Cord Injuries ISO RGD:11336 D RGD:9068941 20200609 RGD PMID:17611274|REF_RGD_ID:2300052 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:9000998 Brain Injuries ISO RGD:3742 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, blood vessel PMID:9704602|REF_RGD_ID:2300066 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3742 D RGD:9068941 20200609 RGD PMID:18615449|REF_RGD_ID:2300030 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3742 D RGD:9068941 20200609 RGD mRNA:increased expression:liver, fat cell PMID:8786698|REF_RGD_ID:2300071 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18615449|PMID:25380136 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:9001600 Wounds and Injuries ISO RGD:3742 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:skin, fibroblast PMID:8245406|REF_RGD_ID:2300076 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:9002165 Diabetic Nephropathies ISO RGD:3742 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:decreased expression:kidney PMID:8569083|REF_RGD_ID:2300072 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:9002170 Experimental Neoplasms ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20164124 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:9002211 Hyperalgesia ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20714283 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:9002762 Ovarian Neoplasms ISO RGD:11336 D RGD:9068941 20200609 RGD PMID:17951402|REF_RGD_ID:2300019 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:9002762 Ovarian Neoplasms ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19177197 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:9002928 Colonic Neoplasms ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17397030 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:9003669 Low Back Pain ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20714283 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:9004657 Weight Gain ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:9005372 Inflammation ISO RGD:11336 D RGD:9068941 20200609 RGD associated with Hypertension PMID:17717147|REF_RGD_ID:2300051 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:9005749 Necrosis ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23408952 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:9005930 Endotoxemia ISO RGD:3742 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:10703670|REF_RGD_ID:2300026 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731035 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:9007102 Myocardial Ischemia ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:9007702 Carcinogenesis ISO RGD:731035 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26783756 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:9008443 Colorectal Neoplasms ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18458674 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:9119 acute myeloid leukemia ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:9538 multiple myeloma ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18172295 11734635 SPARC secreted protein acidic and cysteine rich gene DOID:9970 obesity ISO RGD:11336 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue PMID:11294850|REF_RGD_ID:2300062 11734655 CFAP144 cilia and flagella associated protein 144 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:2299984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11734655 CFAP144 cilia and flagella associated protein 144 gene DOID:630 genetic disease ISO RGD:2299984 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11734655 CFAP144 cilia and flagella associated protein 144 gene DOID:9007802 GLUT1 Deficiency Syndrome ISO RGD:2299984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive PMID:28492532 11734669 NRXN1 neurexin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:734185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11734669 NRXN1 neurexin 1 gene DOID:0060488 Pitt-Hopkins syndrome ISO RGD:734185 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome PMID:28492532|PMID:29924869 11734669 NRXN1 neurexin 1 gene DOID:0080495 ovarian dysgenesis 3 ISO RGD:734185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 3 PMID:28492532 11734669 NRXN1 neurexin 1 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:734185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:16199547|PMID:17034946|PMID:17576681|PMID:18179900|PMID:18414213|PMID:18490107|PMID:19896112|PMID:20347009|PMID:20468056|PMID:20848651|PMID:21288692|PMID:21424692|PMID:21681106|PMID:21827697|PMID:21964664|PMID:22405623|PMID:22504536|PMID:22617343|PMID:23207424|PMID:23472757|PMID:23495017|PMID:23533028|PMID:23849776|PMID:24832020|PMID:2504536|PMID:25149956|PMID:25326635|PMID:25408897|PMID:25418537|PMID:25533962|PMID:25614873|PMID:25640679|PMID:25661985|PMID:25741868|PMID:26185613|PMID:26325558|PMID:26350204|PMID:26467025|PMID:26742492|PMID:27195815|PMID:28289584|PMID:28492532|PMID:29221905|PMID:29924869|PMID:30031152|PMID:30564305|PMID:30709877|PMID:32942984|PMID:33004838|PMID:9536098 11734669 NRXN1 neurexin 1 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 susceptibility ISO RGD:734185 D RGD:7240710 20230517 OMIM 11734669 NRXN1 neurexin 1 gene DOID:1059 intellectual disability ISO RGD:734185 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability PMID:25741868|PMID:26350204|PMID:26467025|PMID:28492532 11734669 NRXN1 neurexin 1 gene DOID:12849 autistic disorder ISO RGD:734185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:25741868|PMID:30208311 11734669 NRXN1 neurexin 1 gene DOID:224 transient cerebral ischemia ISO RGD:628659 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA:decreased expression:cerebral cortex PMID:12437578|REF_RGD_ID:632385 11734669 NRXN1 neurexin 1 gene DOID:5419 schizophrenia ISO RGD:734185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11734669 NRXN1 neurexin 1 gene DOID:630 genetic disease ISO RGD:734185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17034946|PMID:17576681|PMID:18179900|PMID:18414213|PMID:18490107|PMID:19896112|PMID:20468056|PMID:21288692|PMID:21424692|PMID:21964664|PMID:22405623|PMID:22504536|PMID:22892527|PMID:23495017|PMID:23533028|PMID:23849776|PMID:24064682|PMID:24832020|PMID:25149956|PMID:25418537|PMID:25533962|PMID:25741868|PMID:26350204|PMID:26467025|PMID:28289584|PMID:28492532|PMID:29221905|PMID:29924869|PMID:30031152|PMID:30564305|PMID:32942984|PMID:33004838|PMID:9536098 11734669 NRXN1 neurexin 1 gene DOID:9001388 CHROMOSOME 2p16.3 DELETION SYNDROME ISO RGD:734185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chromosome 2p16.3 deletion syndrome PMID:18179900|PMID:18945720|PMID:21681106|PMID:23495017|PMID:25741868|PMID:28492532 11734669 NRXN1 neurexin 1 gene DOID:9001388 CHROMOSOME 2p16.3 DELETION SYNDROME susceptibility ISO RGD:734185 D RGD:7240710 20230517 OMIM 11734669 NRXN1 neurexin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11734669 NRXN1 neurexin 1 gene DOID:9005466 Language Development Disorders ISO RGD:734185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20157312 11734669 NRXN1 neurexin 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:734185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18057082 11734669 NRXN1 neurexin 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:734185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18057082 11734669 NRXN1 neurexin 1 gene DOID:9009160 SCHIZOPHRENIA 17 ISO RGD:734185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Schizophrenia 17 PMID:21424692 11734669 NRXN1 neurexin 1 gene DOID:9970 obesity ISO RGD:734185 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 11734717 LOC100992351 putative UPF0607 protein ENSP00000383144 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:16570936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11734723 SMDT1 single-pass membrane protein with aspartate rich tail 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1602445 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11734723 SMDT1 single-pass membrane protein with aspartate rich tail 1 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1602445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 11734723 SMDT1 single-pass membrane protein with aspartate rich tail 1 gene DOID:1059 intellectual disability ISO RGD:1602445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11734723 SMDT1 single-pass membrane protein with aspartate rich tail 1 gene DOID:630 genetic disease ISO RGD:1602445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11734723 SMDT1 single-pass membrane protein with aspartate rich tail 1 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1602445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 11734730 LOC100994239 protocadherin alpha-2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1315965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11734730 LOC100994239 protocadherin alpha-2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1315965 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11734730 LOC100994239 protocadherin alpha-2 gene DOID:10283 prostate cancer ISO RGD:1315965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11734730 LOC100994239 protocadherin alpha-2 gene DOID:10487 Hirschsprung's disease ISO RGD:1315965 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 11734730 LOC100994239 protocadherin alpha-2 gene DOID:2228 thrombocytosis ISO RGD:1315965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytosis PMID:25741868 11734730 LOC100994239 protocadherin alpha-2 gene DOID:630 genetic disease ISO RGD:1315965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11734730 LOC100994239 protocadherin alpha-2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11734730 LOC100994239 protocadherin alpha-2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315965 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11734735 NUFIP2 nuclear FMR1 interacting protein 2 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1606255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 11734735 NUFIP2 nuclear FMR1 interacting protein 2 gene DOID:630 genetic disease ISO RGD:1606255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11734747 KTI12 KTI12 chromatin associated homolog gene DOID:630 genetic disease ISO RGD:1603926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11734752 LACRT lacritin gene DOID:630 genetic disease ISO RGD:1344511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11734765 NAP1L5 nucleosome assembly protein 1 like 5 gene DOID:630 genetic disease ISO RGD:1348887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11734765 NAP1L5 nucleosome assembly protein 1 like 5 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1348887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 11734765 NAP1L5 nucleosome assembly protein 1 like 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11734787 CEP170B centrosomal protein 170B gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1345091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11734787 CEP170B centrosomal protein 170B gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1345091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 11734787 CEP170B centrosomal protein 170B gene DOID:1682 congenital heart disease ISO RGD:1345091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:23087211|PMID:25741868|PMID:31680349 11734787 CEP170B centrosomal protein 170B gene DOID:630 genetic disease ISO RGD:1345091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11734811 KDM8 lysine demethylase 8 gene DOID:1612 breast cancer ISO RGD:1602684 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:20457893|REF_RGD_ID:9587844 11734811 KDM8 lysine demethylase 8 gene DOID:1925 Coffin-Siris syndrome ISO RGD:1602684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome PMID:25741868 11734811 KDM8 lysine demethylase 8 gene DOID:630 genetic disease ISO RGD:1602684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11734811 KDM8 lysine demethylase 8 gene DOID:684 hepatocellular carcinoma ISO RGD:1602684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11734833 G3BP2 G3BP stress granule assembly factor 2 gene DOID:630 genetic disease ISO RGD:1602228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11734833 G3BP2 G3BP stress granule assembly factor 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1602228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 11734833 G3BP2 G3BP stress granule assembly factor 2 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1602228 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11734860 TMPO thymopoietin gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:735785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:23861362|PMID:24033266|PMID:24375709|PMID:24448499|PMID:25741868|PMID:28074886|PMID:28492532|PMID:30327538 11734860 TMPO thymopoietin gene DOID:0050700 cardiomyopathy ISO RGD:735785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:28492532 11734860 TMPO thymopoietin gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:735785 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 PMID:16247757|PMID:17576681|PMID:23861362|PMID:24033266|PMID:24375709|PMID:24448499|PMID:25741868|PMID:27662471|PMID:28074886|PMID:28166811|PMID:28492532|PMID:28798025|PMID:30327538|PMID:9536098 11734860 TMPO thymopoietin gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:735785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:16247757|PMID:17576681|PMID:23861362|PMID:24033266|PMID:24375709|PMID:24448499|PMID:25741868|PMID:27662471|PMID:28074886|PMID:28492532|PMID:28798025|PMID:30327538|PMID:9536098 11734860 TMPO thymopoietin gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:735785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:16247757|PMID:17576681|PMID:23861362|PMID:24033266|PMID:24375709|PMID:24448499|PMID:25741868|PMID:27662471|PMID:28074886|PMID:28492532|PMID:28798025|PMID:30327538|PMID:31983221|PMID:9536098 11734860 TMPO thymopoietin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:735785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 11734860 TMPO thymopoietin gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:735785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:16247757|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 11734860 TMPO thymopoietin gene DOID:0110452 dilated cardiomyopathy 1T ISO RGD:735785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1T PMID:16247757|PMID:23861362|PMID:24033266|PMID:24375709|PMID:24448499|PMID:25741868|PMID:28074886|PMID:28492532|PMID:30327538 11734860 TMPO thymopoietin gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:735785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 11734860 TMPO thymopoietin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:735785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 11734860 TMPO thymopoietin gene DOID:12930 dilated cardiomyopathy ISO RGD:735785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16247757|PMID:23861362|PMID:24033266|PMID:24375709|PMID:24448499|PMID:25741868|PMID:28074886|PMID:28492532|PMID:30327538 11734860 TMPO thymopoietin gene DOID:630 genetic disease ISO RGD:735785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16247757|PMID:23861362|PMID:24033266|PMID:24375709|PMID:24448499|PMID:25741868|PMID:27662471|PMID:28074886|PMID:28492532|PMID:28798025|PMID:30327538 11734860 TMPO thymopoietin gene DOID:7148 rheumatoid arthritis ISO RGD:735785 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 11734860 TMPO thymopoietin gene DOID:9007102 Myocardial Ischemia ISO RGD:735785 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11734873 DCAF8L2 DDB1 and CUL4 associated factor 8 like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11734873 DCAF8L2 DDB1 and CUL4 associated factor 8 like 2 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1342776 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:22510846|PMID:23453023|PMID:24504883|PMID:28492532 11734873 DCAF8L2 DDB1 and CUL4 associated factor 8 like 2 gene DOID:12849 autistic disorder ISO RGD:1342776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11734873 DCAF8L2 DDB1 and CUL4 associated factor 8 like 2 gene DOID:630 genetic disease ISO RGD:1342776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11734873 DCAF8L2 DDB1 and CUL4 associated factor 8 like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11734897 HSPB8 heat shock protein family B (small) member 8 gene DOID:0110174 Charcot-Marie-Tooth disease axonal type 2L ISO RGD:1346187 D RGD:7240710 20180130 OMIM 11734897 HSPB8 heat shock protein family B (small) member 8 gene DOID:0110174 Charcot-Marie-Tooth disease axonal type 2L ISO RGD:1346187 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2L PMID:15021985|PMID:15122253|PMID:15565283|PMID:17344846|PMID:20157854|PMID:20538880|PMID:20858900|PMID:21985219|PMID:23389032|PMID:25206829|PMID:25741868|PMID:26467025|PMID:26718575|PMID:26986878|PMID:28251916|PMID:28492532|PMID:28501893|PMID:28747872|PMID:28780615|PMID:32376792 11734897 HSPB8 heat shock protein family B (small) member 8 gene DOID:0111208 distal hereditary motor neuronopathy type 2A ISO RGD:1346187 D RGD:7240710 20180130 OMIM 11734897 HSPB8 heat shock protein family B (small) member 8 gene DOID:0111208 distal hereditary motor neuronopathy type 2A ISO RGD:1346187 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2A PMID:15122253|PMID:1517763|PMID:17344846|PMID:20538880|PMID:21985219|PMID:25741868|PMID:26467025|PMID:26718575|PMID:26986878|PMID:28251916|PMID:28492532|PMID:32376792 11734897 HSPB8 heat shock protein family B (small) member 8 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1346187 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:15021985|PMID:15122253|PMID:15565283|PMID:20157854|PMID:20538880|PMID:20858900|PMID:21985219|PMID:23389032|PMID:23796487|PMID:25206829|PMID:26467025|PMID:28747872|PMID:28780615 11734897 HSPB8 heat shock protein family B (small) member 8 gene DOID:11720 distal myopathy ISO RGD:1346187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal myopathy PMID:25741868|PMID:26976520|PMID:28501893|PMID:29029362 11734897 HSPB8 heat shock protein family B (small) member 8 gene DOID:630 genetic disease ISO RGD:1346187 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17344846|PMID:25741868|PMID:26467025|PMID:26718575|PMID:28492532|PMID:32376792 11734904 DMD dystrophin gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:25741868|PMID:28492532 11734904 DMD dystrophin gene DOID:0050451 Brugada syndrome ISO RGD:736976 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:25741868|PMID:28492532 11734904 DMD dystrophin gene DOID:0050700 cardiomyopathy ISO RGD:736976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10320864|PMID:10533061|PMID:11241855|PMID:11524473|PMID:11710958|PMID:12354438|PMID:12359139|PMID:12467752|PMID:14659407|PMID:14695533|PMID:15643612|PMID:15655674|PMID:16049303|PMID:16199547|PMID:16566881|PMID:16770791|PMID:16834926|PMID:17041906|PMID:17145200|PMID:17259292|PMID:17576681|PMID:17726484|PMID:17826093|PMID:18583217|PMID:18663755|PMID:19158079|PMID:19409785|PMID:19760747|PMID:19783145|PMID:19937601|PMID:19959795|PMID:20098710|PMID:20696926|PMID:21515508|PMID:21969337|PMID:22678781|PMID:23251671|PMID:23299917|PMID:23453023|PMID:23536893|PMID:23757202|PMID:23871722|PMID:24033266|PMID:24055113|PMID:24066114|PMID:24690944|PMID:25007885|PMID:25163546|PMID:25231023|PMID:25333069|PMID:25474345|PMID:25636106|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26066469|PMID:26260725|PMID:26284620|PMID:26392559|PMID:26467025|PMID:26743743|PMID:27263301|PMID:27593222|PMID:27896284|PMID:27898983|PMID:28181471|PMID:28181689|PMID:28318817|PMID:28492532|PMID:28701297|PMID:28798025|PMID:28859693|PMID:29511324|PMID:29517769|PMID:29604111|PMID:29792937|PMID:29847600|PMID:29961767|PMID:29970176|PMID:30086531|PMID:30342905|PMID:30833962|PMID:31081998|PMID:31216405|PMID:31333075|PMID:31412794|PMID:31443951|PMID:31568572|PMID:31708335|PMID:32419263|PMID:32746448|PMID:33101180|PMID:33644936|PMID:7599634|PMID:7599638|PMID:7611292|PMID:7668256|PMID:7849724|PMID:7881286|PMID:7981690|PMID:8281150|PMID:8301652|PMID:8789442|PMID:9067763|PMID:9170407|PMID:9536098 11734904 DMD dystrophin gene DOID:0050700 cardiomyopathy ISO RGD:736976 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy PMID:10320864|PMID:10533061|PMID:11241855|PMID:11524473|PMID:11710958|PMID:12354438|PMID:12359139|PMID:12467752|PMID:14659407|PMID:14695533|PMID:15643612|PMID:15655674|PMID:16049303|PMID:16199547|PMID:16566881|PMID:16770791|PMID:16834926|PMID:17041906|PMID:17145200|PMID:17259292|PMID:17576681|PMID:17726484|PMID:17826093|PMID:17854090|PMID:18583217|PMID:18663755|PMID:19158079|PMID:19409785|PMID:19760747|PMID:19783145|PMID:19937601|PMID:19959795|PMID:20098710|PMID:20696926|PMID:21515508|PMID:21969337|PMID:22223181|PMID:22678781|PMID:23251671|PMID:23299917|PMID:23453023|PMID:23536893|PMID:23757202|PMID:23871722|PMID:24033266|PMID:24055113|PMID:24066114|PMID:24690944|PMID:25007885|PMID:25163546|PMID:25227141|PMID:25231023|PMID:25333069|PMID:25474345|PMID:25636106|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26066469|PMID:26260725|PMID:26284620|PMID:26392559|PMID:26467025|PMID:26743743|PMID:27263301|PMID:27593222|PMID:27896284|PMID:27898983|PMID:27930565|PMID:28181471|PMID:28181689|PMID:28318817|PMID:28492532|PMID:28701297|PMID:28798025|PMID:28859693|PMID:29511324|PMID:29517769|PMID:29604111|PMID:29792937|PMID:29847600|PMID:29961767|PMID:29970176|PMID:30086531|PMID:30342905|PMID:30833962|PMID:31081998|PMID:31216405|PMID:31333075|PMID:31404137|PMID:31412794|PMID:31443951|PMID:31568572|PMID:31708335|PMID:32194622|PMID:32419263|PMID:32746448|PMID:33101180|PMID:33644936|PMID:7599634|PMID:7599638|PMID:7611292|PMID:7668256|PMID:7849724|PMID:7881286|PMID:7981690|PMID:8281150|PMID:8301652|PMID:8789442|PMID:9067763|PMID:9170407|PMID:9536098 11734904 DMD dystrophin gene DOID:0060260 ptosis ISO RGD:736976 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ptosis PMID:16770791|PMID:17041906|PMID:23536893|PMID:25007885|PMID:25741868|PMID:26046366|PMID:28492532 11734904 DMD dystrophin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11734904 DMD dystrophin gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:736976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked PMID:17504899|PMID:20685758|PMID:21408189|PMID:26980296|PMID:28492532 11734904 DMD dystrophin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736976 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:28569743|PMID:31333075|PMID:31568572 11734904 DMD dystrophin gene DOID:0081164 dilated cardiomyopathy 3B ISO RGD:736976 D RGD:7240710 20220831 OMIM 11734904 DMD dystrophin gene DOID:0081164 dilated cardiomyopathy 3B ISO RGD:736976 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 3B PMID:10094565|PMID:10909857|PMID:11257468|PMID:11524473|PMID:11710958|PMID:12354438|PMID:12359139|PMID:12467752|PMID:12632325|PMID:14695533|PMID:15351422|PMID:1549596|PMID:15643612|PMID:15655674|PMID:16049303|PMID:16077730|PMID:16199547|PMID:1644931|PMID:16770791|PMID:17041906|PMID:17253928|PMID:17259292|PMID:17576681|PMID:17826093|PMID:17854090|PMID:18583217|PMID:18652600|PMID:18653336|PMID:18663755|PMID:19074751|PMID:19158079|PMID:19206170|PMID:19367636|PMID:19409785|PMID:19602481|PMID:19760747|PMID:19783145|PMID:19793655|PMID:19937601|PMID:19959795|PMID:20485447|PMID:20696926|PMID:21104870|PMID:21396098|PMID:21399986|PMID:21515508|PMID:21520333|PMID:21851881|PMID:21969337|PMID:22223181|PMID:22678781|PMID:23251671|PMID:23299917|PMID:23299919|PMID:23352160|PMID:23453023|PMID:23536893|PMID:23757202|PMID:23871722|PMID:24033266|PMID:24055113|PMID:24066114|PMID:24690944|PMID:25007885|PMID:25163546|PMID:25231023|PMID:25333069|PMID:25447171|PMID:25474345|PMID:25525159|PMID:25636106|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26066469|PMID:26260725|PMID:26284620|PMID:26365249|PMID:26467025|PMID:26735901|PMID:26743743|PMID:2691353|PMID:26968818|PMID:26990548|PMID:27122458|PMID:27135274|PMID:27593222|PMID:27708273|PMID:27750387|PMID:27896284|PMID:27930565|PMID:28116794|PMID:28181471|PMID:28318817|PMID:28492532|PMID:28701297|PMID:28859693|PMID:29511324|PMID:29517769|PMID:29604111|PMID:29874176|PMID:29961767|PMID:30086531|PMID:30275481|PMID:30342905|PMID:30415094|PMID:30564623|PMID:30833962|PMID:31216405|PMID:31333075|PMID:31404137|PMID:31412794|PMID:31443951|PMID:31568572|PMID:31648988|PMID:31708335|PMID:31983221|PMID:32013268|PMID:32194622|PMID:32419263|PMID:32559196|PMID:33144682|PMID:33644936|PMID:34106991|PMID:35135626|PMID:36409343|PMID:7599638|PMID:7825571|PMID:7881286|PMID:8123157|PMID:8281150|PMID:8301652|PMID:8361506|PMID:8589698|PMID:8789442|PMID:8840119|PMID:9170407|PMID:9536098|PMID:9544849|PMID:9683584 11734904 DMD dystrophin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736976 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:24033266|PMID:25741868|PMID:28492532|PMID:28569743|PMID:31333075|PMID:31568572 11734904 DMD dystrophin gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:736976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868|PMID:28492532|PMID:34103343 11734904 DMD dystrophin gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:736976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:25741868|PMID:28492532|PMID:34103343 11734904 DMD dystrophin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:11710958|PMID:19760747|PMID:24033266|PMID:25007885|PMID:25741868|PMID:26467025|PMID:26743743|PMID:28492532|PMID:7599634|PMID:7849724 11734904 DMD dystrophin gene DOID:0110461 X-linked dilated cardiomyopathy ISO RGD:736976 D RGD:7240710 20180130 OMIM 11734904 DMD dystrophin gene DOID:0110461 X-linked dilated cardiomyopathy ISO RGD:736976 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, X-LINKED PMID:11257468|PMID:11524473|PMID:11710958|PMID:12354438|PMID:12359139|PMID:12467752|PMID:12632325|PMID:14695533|PMID:15643612|PMID:15655674|PMID:16049303|PMID:16199547|PMID:16770791|PMID:17041906|PMID:17253928|PMID:17259292|PMID:17576681|PMID:17826093|PMID:17854090|PMID:18583217|PMID:18652600|PMID:18653336|PMID:18663755|PMID:19074751|PMID:19158079|PMID:19206170|PMID:19367636|PMID:19409785|PMID:19760747|PMID:19783145|PMID:19793655|PMID:19937601|PMID:19959795|PMID:20696926|PMID:21104870|PMID:21396098|PMID:21399986|PMID:21515508|PMID:21520333|PMID:21969337|PMID:22223181|PMID:22678781|PMID:23251671|PMID:23299917|PMID:23352160|PMID:23536893|PMID:23757202|PMID:23871722|PMID:24033266|PMID:24055113|PMID:24066114|PMID:24690944|PMID:25007885|PMID:25163546|PMID:25231023|PMID:25333069|PMID:25447171|PMID:25474345|PMID:25636106|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26066469|PMID:26260725|PMID:26284620|PMID:26365249|PMID:26467025|PMID:26735901|PMID:26743743|PMID:2691353|PMID:26990548|PMID:27135274|PMID:27593222|PMID:27708273|PMID:27896284|PMID:27930565|PMID:28181471|PMID:28318817|PMID:28492532|PMID:28701297|PMID:28859693|PMID:29511324|PMID:29517769|PMID:29604111|PMID:29874176|PMID:29961767|PMID:30086531|PMID:30275481|PMID:30342905|PMID:30415094|PMID:30564623|PMID:30833962|PMID:31216405|PMID:31333075|PMID:31404137|PMID:31412794|PMID:31443951|PMID:31568572|PMID:31648988|PMID:31708335|PMID:31983221|PMID:32013268|PMID:32194622|PMID:32419263|PMID:33644936|PMID:34106991|PMID:35135626|PMID:36409343|PMID:7599638|PMID:7881286|PMID:8789442|PMID:8840119|PMID:9170407|PMID:9536098|PMID:9544849 11734904 DMD dystrophin gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:25741868|PMID:28492532 11734904 DMD dystrophin gene DOID:1059 intellectual disability ISO RGD:736976 D RGD:9068941 20200609 RGD DNA:deletion:cds:c.9711_9713del (p.L3238del)(human) PMID:23900271|REF_RGD_ID:12879885 11734904 DMD dystrophin gene DOID:11612 polycystic ovary syndrome ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11734904 DMD dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736976 D RGD:7240710 20180130 OMIM 11734904 DMD dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736976 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy PMID:10094565|PMID:10196701|PMID:10320864|PMID:10392746|PMID:10464635|PMID:10480348|PMID:10533061|PMID:10541573|PMID:10612827|PMID:10832829|PMID:10841222|PMID:10909857|PMID:11039581|PMID:11185740|PMID:11257468|PMID:11381192|PMID:11388892|PMID:11409318|PMID:11524473|PMID:11710958|PMID:12111668|PMID:12233050|PMID:12324874|PMID:12354438|PMID:12359139|PMID:12398835|PMID:12467752|PMID:12632325|PMID:12673664|PMID:12674656|PMID:12754415|PMID:12754707|PMID:12794683|PMID:12920092|PMID:1301174|PMID:1301934|PMID:1307253|PMID:1363782|PMID:13679720|PMID:1383546|PMID:14641995|PMID:14659407|PMID:14695533|PMID:1496988|PMID:14973546|PMID:14977063|PMID:15038390|PMID:1513469|PMID:15253946|PMID:15319032|PMID:15351422|PMID:1549596|PMID:15528988|PMID:15637982|PMID:15643612|PMID:15655674|PMID:15684864|PMID:15723292|PMID:15841391|PMID:15952989|PMID:15976104|PMID:15979033|PMID:1601417|PMID:16030524|PMID:16049303|PMID:16077730|PMID:16199547|PMID:16331671|PMID:16439068|PMID:16566881|PMID:16770791|PMID:16834926|PMID:16917894|PMID:17024373|PMID:17041906|PMID:17124406|PMID:17145200|PMID:17253928|PMID:17259292|PMID:17435279|PMID:17561468|PMID:17576681|PMID:17726484|PMID:17826093|PMID:17854090|PMID:17880784|PMID:17952667|PMID:18054699|PMID:18055393|PMID:18261911|PMID:18348289|PMID:18353051|PMID:18403565|PMID:18445268|PMID:18583217|PMID:1864612|PMID:18646563|PMID:18652600|PMID:18663755|PMID:18683213|PMID:1868831|PMID:18752307|PMID:18853462|PMID:18974567|PMID:19001018|PMID:19040728|PMID:19073314|PMID:19074751|PMID:19084397|PMID:19158079|PMID:19206170|PMID:19230662|PMID:19309270|PMID:19367636|PMID:19409785|PMID:19449031|PMID:19461958|PMID:19530190|PMID:19602481|PMID:19730022|PMID:19760747|PMID:19763152|PMID:19783145|PMID:19793655|PMID:19835634|PMID:19837995|PMID:19907931|PMID:19937601|PMID:19959795|PMID:20031633|PMID:20036901|PMID:20098710|PMID:20153965|PMID:20307669|PMID:20381484|PMID:2040695|PMID:20485447|PMID:20630757|PMID:2063877|PMID:20683981|PMID:20696926|PMID:2071150|PMID:20847377|PMID:20944443|PMID:21104870|PMID:21150048|PMID:21180173|PMID:21228398|PMID:2136098|PMID:21396098|PMID:21399986|PMID:21515508|PMID:21520333|PMID:21525508|PMID:21550932|PMID:21815800|PMID:21851881|PMID:21896784|PMID:21969337|PMID:21972111|PMID:22090376|PMID:22092019|PMID:22182525|PMID:22223181|PMID:22234188|PMID:22234189|PMID:22369279|PMID:22379338|PMID:22406018|PMID:22510846|PMID:2261642|PMID:22678781|PMID:22776072|PMID:22894145|PMID:22910583|PMID:22980762|PMID:2316519|PMID:23251671|PMID:23276443|PMID:23299917|PMID:23299919|PMID:23349452|PMID:23352160|PMID:23438214|PMID:23440719|PMID:23453023|PMID:23536893|PMID:2354438|PMID:23588064|PMID:23667215|PMID:23695957|PMID:23756440|PMID:23757202|PMID:23818053|PMID:2383276|PMID:23871722|PMID:23914114|PMID:24033266|PMID:24055113|PMID:24066114|PMID:24099565|PMID:24217213|PMID:24265581|PMID:24292997|PMID:24300647|PMID:24349052|PMID:24504883|PMID:24690944|PMID:24770780|PMID:24835530|PMID:24871807|PMID:24892813|PMID:24928015|PMID:25007885|PMID:25056178|PMID:25076844|PMID:25108525|PMID:25163546|PMID:25227141|PMID:25231023|PMID:25244321|PMID:25326637|PMID:25333069|PMID:25353622|PMID:25434822|PMID:25447171|PMID:25474345|PMID:25482253|PMID:25525159|PMID:25612904|PMID:25636106|PMID:25637381|PMID:25640679|PMID:2573997|PMID:25741868|PMID:25937795|PMID:25972034|PMID:26046366|PMID:26066469|PMID:26081009|PMID:26110187|PMID:26140716|PMID:26260725|PMID:26272908|PMID:26284620|PMID:26350204|PMID:26365249|PMID:26392559|PMID:26455815|PMID:26467025|PMID:26594346|PMID:26676145|PMID:26718981|PMID:26735901|PMID:26740235|PMID:26743743|PMID:26745801|PMID:26836830|PMID:26911353|PMID:2691353|PMID:26934379|PMID:26951757|PMID:26968818|PMID:26990548|PMID:27009627|PMID:27122458|PMID:27135274|PMID:27178005|PMID:27206868|PMID:27263301|PMID:27350676|PMID:27363342|PMID:27515321|PMID:27582364|PMID:27593222|PMID:27708273|PMID:27750387|PMID:27854212|PMID:27854218|PMID:27896284|PMID:27898983|PMID:27930565|PMID:28100912|PMID:28116794|PMID:28181471|PMID:28181689|PMID:28247318 11734904 DMD dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736976 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy PMID:28318817|PMID:28332368|PMID:28416588|PMID:28492532|PMID:28503591|PMID:28569743|PMID:28610567|PMID:28701297|PMID:28750076|PMID:28798025|PMID:28859693|PMID:28878402|PMID:29196072|PMID:29246534|PMID:29261181|PMID:29304097|PMID:29511324|PMID:29517769|PMID:29581631|PMID:29604111|PMID:29610182|PMID:29641567|PMID:29792937|PMID:29847600|PMID:29874176|PMID:29961767|PMID:29970176|PMID:29973226|PMID:30086531|PMID:30275481|PMID:30342905|PMID:30415094|PMID:30564623|PMID:30833962|PMID:30944907|PMID:31081998|PMID:31127727|PMID:31139960|PMID:31197268|PMID:31216405|PMID:31333075|PMID:31404137|PMID:31412794|PMID:31568572|PMID:31648988|PMID:31671740|PMID:31690835|PMID:31705731|PMID:31708335|PMID:31727011|PMID:31737537|PMID:31919629|PMID:31983221|PMID:32013268|PMID:32047267|PMID:32194622|PMID:32358784|PMID:32403337|PMID:32419263|PMID:32488064|PMID:32528171|PMID:32559196|PMID:32669210|PMID:32746448|PMID:32813700|PMID:32860008|PMID:32906206|PMID:32962870|PMID:33029525|PMID:33101180|PMID:33106653|PMID:33238405|PMID:33420945|PMID:33644936|PMID:33829027|PMID:33843695|PMID:3393617|PMID:34008892|PMID:34297739|PMID:34404389|PMID:34629887|PMID:34906502|PMID:35165973|PMID:7581396|PMID:7599634|PMID:7599638|PMID:7611292|PMID:7649554|PMID:7668256|PMID:7747792|PMID:7825571|PMID:7825572|PMID:7849724|PMID:7853367|PMID:7881286|PMID:7951253|PMID:7981590|PMID:7981690|PMID:8034300|PMID:8149204|PMID:8160755|PMID:8199594|PMID:8281150|PMID:8301652|PMID:8317478|PMID:8353493|PMID:8361506|PMID:8364587|PMID:8401539|PMID:8401582|PMID:8413368|PMID:8423832|PMID:8429320|PMID:8499922|PMID:8533818|PMID:8543940|PMID:8628480|PMID:8789442|PMID:8840119|PMID:9007319|PMID:9028449|PMID:9040743|PMID:9067763|PMID:9143930|PMID:9170407|PMID:9195228|PMID:9225508|PMID:9298822|PMID:9441825|PMID:9470882|PMID:9536098|PMID:9544849|PMID:9619643|PMID:9628192|PMID:9800909 11734904 DMD dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy PMID:10094565|PMID:10196701|PMID:10320864|PMID:10392746|PMID:10464635|PMID:10465346|PMID:10480348|PMID:10533061|PMID:10541573|PMID:10612827|PMID:10722962|PMID:10832829|PMID:10841222|PMID:10909857|PMID:11039581|PMID:11185740|PMID:11241855|PMID:11257468|PMID:11381192|PMID:11388892|PMID:11409318|PMID:11524473|PMID:11710958|PMID:12111668|PMID:12233050|PMID:12324874|PMID:12354438|PMID:12359139|PMID:12398835|PMID:12467752|PMID:12632325|PMID:12673664|PMID:12674656|PMID:12754415|PMID:12754707|PMID:12794683|PMID:12920092|PMID:1301174|PMID:1301934|PMID:1307253|PMID:1363782|PMID:13679720|PMID:1383546|PMID:14514278|PMID:14641995|PMID:14652441|PMID:14659407|PMID:14695533|PMID:14961551|PMID:14962982|PMID:1496988|PMID:14973546|PMID:14977063|PMID:15038390|PMID:1513469|PMID:15253946|PMID:15319032|PMID:15351422|PMID:1549596|PMID:15528988|PMID:15637982|PMID:15643612|PMID:15655674|PMID:15684864|PMID:15723292|PMID:15841391|PMID:15845029|PMID:15952989|PMID:15976104|PMID:15979033|PMID:1601417|PMID:16030524|PMID:16049303|PMID:16077730|PMID:16199547|PMID:16331671|PMID:16439068|PMID:16566881|PMID:16770791|PMID:16834926|PMID:16883524|PMID:16917894|PMID:16936400|PMID:16950195|PMID:17024373|PMID:17041906|PMID:17124406|PMID:17145200|PMID:17253928|PMID:17259292|PMID:17380674|PMID:17435279|PMID:17561468|PMID:17576681|PMID:17726484|PMID:17826093|PMID:1785409|PMID:17854090|PMID:17880784|PMID:17952667|PMID:18054699|PMID:18055393|PMID:18059005|PMID:18261911|PMID:18348289|PMID:18353051|PMID:18393226|PMID:18403565|PMID:18445268|PMID:18583217|PMID:1864612|PMID:18646563|PMID:18652600|PMID:18653336|PMID:18663755|PMID:18683213|PMID:1868831|PMID:18752307|PMID:18853462|PMID:1889805|PMID:18974567|PMID:19001018|PMID:19040728|PMID:19065519|PMID:19073314|PMID:19074751|PMID:19084397|PMID:19158079|PMID:19206170|PMID:19230662|PMID:19309270|PMID:19367636|PMID:19409785|PMID:19449031|PMID:19449433|PMID:19461958|PMID:19530190|PMID:19602481|PMID:19730022|PMID:19760747|PMID:19763152|PMID:19783145|PMID:19793655|PMID:19823873|PMID:19835634|PMID:19837995|PMID:19907931|PMID:19937601|PMID:19959795|PMID:20031633|PMID:20036901|PMID:20098710|PMID:20153965|PMID:20307669|PMID:20381484|PMID:2040695|PMID:20457930|PMID:20485447|PMID:20630757|PMID:2063877|PMID:20683981|PMID:20696926|PMID:2071150|PMID:20847377|PMID:20944443|PMID:21104870|PMID:21150048|PMID:21180173|PMID:21228398|PMID:21273767|PMID:2136098|PMID:21396098|PMID:21399986|PMID:21402533|PMID:21515508|PMID:21520333|PMID:21525508|PMID:21550932|PMID:21815800|PMID:21851881|PMID:21896784|PMID:21969337|PMID:21972111|PMID:22090376|PMID:22092019|PMID:22102647|PMID:22144684|PMID:22161109|PMID:22182525|PMID:22223181|PMID:22234188|PMID:22234189|PMID:22369279|PMID:22379338|PMID:22406018|PMID:22510846|PMID:2261642|PMID:22678781|PMID:22776072|PMID:22894145|PMID:22910583|PMID:22980762|PMID:23092449|PMID:2316519|PMID:23224783|PMID:23251671|PMID:23276443|PMID:23299917|PMID:23299919|PMID:23349452|PMID:23352160|PMID:23438214|PMID:23440719|PMID:23453023|PMID:23536893|PMID:2354438|PMID:23588064|PMID:23667215|PMID:23695957|PMID:23756440|PMID:23757202|PMID:23818053|PMID:23829870|PMID:2383276|PMID:23871722|PMID:23914114|PMID:24033266|PMID:24055113|PMID:24066114|PMID:24099565|PMID:24217213|PMID:24236769|PMID:24265581|PMID:24274981|PMID:24292997|PMID:24300647|PMID:24302611|PMID:24349052|PMID:24504883|PMID:24690944|PMID:24770780|PMID:24835530|PMID:24871807|PMID:24892813|PMID:24928015|PMID:25007885|PMID:25056178|PMID:25076844|PMID:25108525|PMID:25163546|PMID:25193336|PMID:25214167|PMID:25227141|PMID:25231023|PMID:25244321|PMID:25326637|PMID:25333069|PMID:25340340|PMID:25353622|PMID:25434822|PMID:25447171|PMID:25474345|PMID:25482253|PMID:25525159|PMID:25612904|PMID:25636106|PMID:25637381|PMID:25640679|PMID:2573997|PMID:25741868|PMID:25761239|PMID:25937795|PMID:25972034|PMID:26046366|PMID:26066469|PMID:26081009|PMID:26110187|PMID:26140716|PMID:26260725|PMID:26272908|PMID:26284620|PMID:26350204|PMID:26365249|PMID:26392559|PMID:26455815|PMID:26467025|PMID:26594346 11734904 DMD dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy PMID:26676145|PMID:26718981|PMID:26735901|PMID:26740235|PMID:26743743|PMID:26745801|PMID:26836830|PMID:26911353|PMID:2691353|PMID:26934379|PMID:26951757|PMID:26968818|PMID:26990548|PMID:27009627|PMID:27122458|PMID:27135274|PMID:27178005|PMID:27206868|PMID:27234031|PMID:27263301|PMID:27290639|PMID:27350676|PMID:27363342|PMID:27425820|PMID:27515321|PMID:27582364|PMID:27593222|PMID:27708273|PMID:27750387|PMID:27854212|PMID:27854218|PMID:27896284|PMID:27898983|PMID:27930565|PMID:28100912|PMID:28116794|PMID:28181471|PMID:28181689|PMID:28247318|PMID:28318817|PMID:28332368|PMID:28407826|PMID:28416588|PMID:28492532|PMID:28503591|PMID:28526893|PMID:28569743|PMID:28610567|PMID:28701297|PMID:28750076|PMID:28777860|PMID:28798025|PMID:28859693|PMID:28878402|PMID:29016797|PMID:29188604|PMID:29196072|PMID:29246534|PMID:29261181|PMID:29304097|PMID:29365344|PMID:29390271|PMID:29511324|PMID:29517769|PMID:29578119|PMID:29581631|PMID:29604111|PMID:29610182|PMID:29641567|PMID:29792937|PMID:29847600|PMID:29874176|PMID:29901616|PMID:29961767|PMID:29970176|PMID:29973226|PMID:30086531|PMID:30275481|PMID:30293248|PMID:30342905|PMID:30415094|PMID:30467404|PMID:30564623|PMID:30816495|PMID:30827497|PMID:30833962|PMID:30907348|PMID:30938079|PMID:30944907|PMID:31081998|PMID:31127727|PMID:31139960|PMID:31197268|PMID:31216405|PMID:31333075|PMID:31379145|PMID:31397097|PMID:31404137|PMID:31412794|PMID:31443951|PMID:31514951|PMID:31568572|PMID:31648988|PMID:31661024|PMID:31671740|PMID:31690835|PMID:31705731|PMID:31706698|PMID:31708335|PMID:31719299|PMID:31727011|PMID:31737537|PMID:31919629|PMID:31983221|PMID:32013268|PMID:32047267|PMID:32055135|PMID:32169422|PMID:32176650|PMID:32194622|PMID:32358784|PMID:32403337|PMID:32419263|PMID:32488064|PMID:32528171|PMID:32559196|PMID:32669210|PMID:32746448|PMID:32813700|PMID:32860008|PMID:32906206|PMID:32962870|PMID:32969603|PMID:33029525|PMID:33101180|PMID:33106653|PMID:33144682|PMID:33238405|PMID:33420945|PMID:33644936|PMID:33829027|PMID:33843695|PMID:3393617|PMID:34008892|PMID:34103343|PMID:34106991|PMID:34297739|PMID:34404389|PMID:34629887|PMID:34906502|PMID:35135626|PMID:35165973|PMID:36409343|PMID:7041906|PMID:7496177|PMID:7581396|PMID:7599634|PMID:7599638|PMID:7611292|PMID:7649554|PMID:7668256|PMID:7747792|PMID:7825571|PMID:7825572|PMID:7849724|PMID:7853367|PMID:7881286|PMID:7897627|PMID:7951251|PMID:7951253|PMID:7981590|PMID:7981690|PMID:8004097|PMID:8034300|PMID:8149204|PMID:8160755|PMID:8199594|PMID:8281150|PMID:8301652|PMID:8317478|PMID:8353493|PMID:8361506|PMID:8364587|PMID:8401539|PMID:8401582|PMID:8413368|PMID:8423832|PMID:8429320|PMID:8452597|PMID:8499922|PMID:8533818|PMID:8543940|PMID:8589698|PMID:8628480|PMID:8784808|PMID:8789442|PMID:8840114|PMID:8840119|PMID:9007319|PMID:9028449|PMID:9040743|PMID:9067763|PMID:9143930|PMID:9170407|PMID:9195228|PMID:9225508|PMID:9298822|PMID:9441825|PMID:9447607|PMID:9470882|PMID:9536098|PMID:9544849|PMID:9619643|PMID:9628192|PMID:9760747|PMID:9800909|PMID:9805122|PMID:9937601 11734904 DMD dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736976 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Duchenne and Becker muscular dystrophy | ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy PMID:10094565|PMID:10196701|PMID:10320864|PMID:10392746|PMID:10464635|PMID:10465346|PMID:10480348|PMID:10533061|PMID:10541573|PMID:10612827|PMID:10722962|PMID:10832829|PMID:10841222|PMID:10909857|PMID:11039581|PMID:11185740|PMID:11241855|PMID:11257468|PMID:11381192|PMID:11388892|PMID:11409318|PMID:11524473|PMID:11710958|PMID:12111668|PMID:12233050|PMID:12324874|PMID:12354438|PMID:12359139|PMID:12398835|PMID:12467752|PMID:12632325|PMID:12673664|PMID:12674656|PMID:12754415|PMID:12754707|PMID:12794683|PMID:12920092|PMID:1301174|PMID:1301934|PMID:1307253|PMID:1363782|PMID:13679720|PMID:1383546|PMID:14514278|PMID:14641995|PMID:14652441|PMID:14659407|PMID:14695533|PMID:14961551|PMID:14962982|PMID:1496988|PMID:14973546|PMID:14977063|PMID:15038390|PMID:1513469|PMID:15253946|PMID:15319032|PMID:15351422|PMID:1549596|PMID:15528988|PMID:15637982|PMID:15643612|PMID:15655674|PMID:15684864|PMID:15723292|PMID:15841391|PMID:15845029|PMID:15952989|PMID:15976104|PMID:15979033|PMID:1601417|PMID:16030524|PMID:16049303|PMID:16077730|PMID:16199547|PMID:16331671|PMID:16439068|PMID:16566881|PMID:16770791|PMID:16834926|PMID:16883524|PMID:16917894|PMID:16936400|PMID:16950195|PMID:17024373|PMID:17041906|PMID:17124406|PMID:17145200|PMID:17253928|PMID:17259292|PMID:17380674|PMID:17435279|PMID:17561468|PMID:17576681|PMID:17680544|PMID:17726484|PMID:17826093|PMID:1785409|PMID:17854090|PMID:17880784|PMID:17952667|PMID:18054699|PMID:18055393|PMID:18059005|PMID:18261911|PMID:18348289|PMID:18353051|PMID:18393226|PMID:18403565|PMID:18445268|PMID:18583217|PMID:1864612|PMID:18646563|PMID:18652600|PMID:18653336|PMID:18663755|PMID:18683213|PMID:1868831|PMID:18752307|PMID:18853462|PMID:1889805|PMID:18974567|PMID:19001018|PMID:19040728|PMID:19065519|PMID:19073314|PMID:19074751|PMID:19084397|PMID:19158079|PMID:19206170|PMID:19230662|PMID:19309270|PMID:19367636|PMID:19409785|PMID:19449031|PMID:19449433|PMID:19461958|PMID:19530190|PMID:19602481|PMID:19730022|PMID:19760747|PMID:19763152|PMID:19783145|PMID:19793655|PMID:19823873|PMID:19835634|PMID:19837995|PMID:19907931|PMID:19937601|PMID:19959795|PMID:20031633|PMID:20036901|PMID:20098710|PMID:20153965|PMID:20307669|PMID:20381484|PMID:2040695|PMID:20457930|PMID:20485447|PMID:20630757|PMID:2063877|PMID:20683981|PMID:20696926|PMID:2071150|PMID:20847377|PMID:20944443|PMID:21104870|PMID:21150048|PMID:21180173|PMID:21228398|PMID:21273767|PMID:2136098|PMID:21396098|PMID:21399986|PMID:21402533|PMID:21515508|PMID:21520333|PMID:21525508|PMID:21815800|PMID:21851881|PMID:21896784|PMID:21969337|PMID:21972111|PMID:22090376|PMID:22092019|PMID:22102647|PMID:22144684|PMID:22161109|PMID:22182525|PMID:22223181|PMID:22234188|PMID:22234189|PMID:22379338|PMID:22406018|PMID:22510846|PMID:2261642|PMID:22678781|PMID:22776072|PMID:22894145|PMID:22910583|PMID:22980762|PMID:23092449|PMID:2316519|PMID:23224783|PMID:23251671|PMID:23276443|PMID:23299917|PMID:23299919|PMID:23349452|PMID:23352160|PMID:23438214|PMID:23440719|PMID:23453023|PMID:23536893|PMID:2354438|PMID:23588064|PMID:23667215|PMID:23695957|PMID:23756440|PMID:23757202|PMID:23818053|PMID:23829870|PMID:2383276|PMID:23871722|PMID:23914114|PMID:24033266|PMID:24055113|PMID:24066114|PMID:24099565|PMID:24217213|PMID:24236769|PMID:24265581|PMID:24274981|PMID:24292997|PMID:24300647|PMID:24302611|PMID:24349052|PMID:24504883|PMID:24690944|PMID:24770780|PMID:24835530|PMID:24871807|PMID:24892813|PMID:24928015|PMID:25007885|PMID:25056178|PMID:25076844|PMID:25163546|PMID:25193336|PMID:25214167|PMID:25227141|PMID:25231023|PMID:25244321|PMID:25326637|PMID:25333069|PMID:25340340|PMID:25348330|PMID:25353622|PMID:25434822|PMID:25447171|PMID:25474345|PMID:25482253|PMID:25525159|PMID:25612904|PMID:25636106|PMID:25637381|PMID:25640679|PMID:2573997|PMID:25741868|PMID:25761239|PMID:25937795|PMID:25972034|PMID:26046366|PMID:26066469|PMID:26081009|PMID:26110187|PMID:26140716|PMID:26260725|PMID:26272908|PMID:26284620|PMID:26350204|PMID:26365249|PMID:26392559|PMID:26455815|PMID:26467025|PMID:26594346|PMID:26676145 11734904 DMD dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736976 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Duchenne and Becker muscular dystrophy | ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy PMID:26718981|PMID:26735901|PMID:26740235|PMID:26743743|PMID:26745801|PMID:26836830|PMID:26911353|PMID:2691353|PMID:26934379|PMID:26951757|PMID:26968818|PMID:26990548|PMID:27009627|PMID:27122458|PMID:27135274|PMID:27178005|PMID:27206868|PMID:27234031|PMID:27263301|PMID:27290639|PMID:27350676|PMID:27363342|PMID:27425820|PMID:27515321|PMID:27582364|PMID:27593222|PMID:27708273|PMID:27750387|PMID:27854212|PMID:27854218|PMID:27896284|PMID:27898983|PMID:27930565|PMID:28100912|PMID:28116794|PMID:28181471|PMID:28181689|PMID:28247318|PMID:28318817|PMID:28332368|PMID:28407826|PMID:28416588|PMID:28492532|PMID:28503591|PMID:28526893|PMID:28569743|PMID:28610567|PMID:28701297|PMID:28750076|PMID:28777860|PMID:28798025|PMID:28859693|PMID:28878337|PMID:28878402|PMID:29016797|PMID:29188604|PMID:29196072|PMID:29246534|PMID:29261181|PMID:29304097|PMID:29365344|PMID:29390271|PMID:29511324|PMID:29517769|PMID:29578119|PMID:29581631|PMID:29604111|PMID:29610182|PMID:29641567|PMID:29792937|PMID:29847600|PMID:29874176|PMID:29901616|PMID:29961767|PMID:29970176|PMID:29973226|PMID:30086531|PMID:30275481|PMID:30293248|PMID:30342905|PMID:30415094|PMID:30467404|PMID:30564623|PMID:30816495|PMID:30827497|PMID:30833962|PMID:30907348|PMID:30938079|PMID:30944907|PMID:31081998|PMID:31127727|PMID:31139960|PMID:31197268|PMID:31216405|PMID:31302907|PMID:31333075|PMID:31379145|PMID:31397097|PMID:31404137|PMID:31412794|PMID:31443951|PMID:31514951|PMID:31568572|PMID:31648988|PMID:31661024|PMID:31671740|PMID:31690835|PMID:31705731|PMID:31706698|PMID:31708335|PMID:31719299|PMID:31727011|PMID:31737537|PMID:31919629|PMID:31983221|PMID:32013268|PMID:32047267|PMID:32055135|PMID:32169422|PMID:32176650|PMID:32194622|PMID:32358784|PMID:32403337|PMID:32419263|PMID:32488064|PMID:32528171|PMID:32559196|PMID:32669210|PMID:32746448|PMID:32813700|PMID:32860008|PMID:32906206|PMID:32962870|PMID:32969603|PMID:33029525|PMID:33101180|PMID:33106653|PMID:33144682|PMID:33238405|PMID:33250842|PMID:33420945|PMID:33644936|PMID:33829027|PMID:33843695|PMID:3393617|PMID:34008892|PMID:34103343|PMID:34106991|PMID:34268379|PMID:34297739|PMID:34404389|PMID:34629887|PMID:34906502|PMID:35135626|PMID:35165973|PMID:36409343|PMID:7041906|PMID:7496177|PMID:7581396|PMID:7599634|PMID:7599638|PMID:7611292|PMID:7649554|PMID:7668256|PMID:7747792|PMID:7825571|PMID:7825572|PMID:7849724|PMID:7853367|PMID:7881286|PMID:7897627|PMID:7951251|PMID:7951253|PMID:7981590|PMID:7981690|PMID:8004097|PMID:8034300|PMID:8149204|PMID:8160755|PMID:8199594|PMID:8281150|PMID:8301652|PMID:8317478|PMID:8353493|PMID:8361506|PMID:8364587|PMID:8401539|PMID:8401582|PMID:8413368|PMID:8423832|PMID:8429320|PMID:8452597|PMID:8499922|PMID:8533818|PMID:8543940|PMID:8589698|PMID:8628480|PMID:8784808|PMID:8789442|PMID:8817332|PMID:8840114|PMID:8840119|PMID:9007319|PMID:9028449|PMID:9040743|PMID:9067763|PMID:9143930|PMID:9170407|PMID:9195228|PMID:9225508|PMID:9298822|PMID:9441825|PMID:9447607|PMID:9470882|PMID:9536098|PMID:9544849|PMID:9619643|PMID:9628192|PMID:9760747|PMID:9800909|PMID:9805122|PMID:9937601 11734904 DMD dystrophin gene DOID:11723 Duchenne muscular dystrophy treatment ISO RGD:736976 D RGD:9068941 20200609 RGD PMID:24010700|REF_RGD_ID:12880007 11734904 DMD dystrophin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:19937601|PMID:19959795|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 11734904 DMD dystrophin gene DOID:12849 autistic disorder ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11734904 DMD dystrophin gene DOID:12930 dilated cardiomyopathy ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12359139|PMID:19409785|PMID:19937601|PMID:21396098|PMID:21969337|PMID:23299917|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532 11734904 DMD dystrophin gene DOID:12930 dilated cardiomyopathy ISO RGD:736976 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12359139|PMID:19409785|PMID:19937601|PMID:21396098|PMID:21969337|PMID:23299917|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32559196 11734904 DMD dystrophin gene DOID:12930 dilated cardiomyopathy ISO RGD:736976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12359139|PMID:19409785|PMID:19937601|PMID:21396098|PMID:21969337|PMID:23299917|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32559196|PMID:34103343 11734904 DMD dystrophin gene DOID:12930 dilated cardiomyopathy severity ISO RGD:736976 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:myocardium PMID:20373002|REF_RGD_ID:6771365 11734904 DMD dystrophin gene DOID:13399 color blindness ISO RGD:736976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Color vision defect PMID:16199547|PMID:16770791|PMID:19937601|PMID:25007885|PMID:27234031|PMID:28492532|PMID:30827497|PMID:34106991 11734904 DMD dystrophin gene DOID:1561 cognitive disorder severity ISO RGD:736976 D RGD:9068941 20200609 RGD DNA:deletion:promoter,start site: PMID:24265581|REF_RGD_ID:12879884 11734904 DMD dystrophin gene DOID:182 calcinosis ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18340010 11734904 DMD dystrophin gene DOID:1824 status epilepticus ISO RGD:2507 D RGD:9068941 20200609 RGD protein:decreased expression:piriform cortex PMID:20886625|REF_RGD_ID:5148023 11734904 DMD dystrophin gene DOID:1824 status epilepticus ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20886625 11734904 DMD dystrophin gene DOID:1882 atrial heart septal defect ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 11734904 DMD dystrophin gene DOID:1967 leiomyosarcoma ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24793134 11734904 DMD dystrophin gene DOID:2843 long QT syndrome ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:18583217|PMID:24033266|PMID:24690944|PMID:25741868|PMID:26467025|PMID:28492532 11734904 DMD dystrophin gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24793134 11734904 DMD dystrophin gene DOID:397 restrictive cardiomyopathy ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy | ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:14695533|PMID:15643612|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 11734904 DMD dystrophin gene DOID:423 myopathy ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 11734904 DMD dystrophin gene DOID:4724 brain edema ISO RGD:2507 D RGD:9068941 20200609 RGD associated with Status Epilepticus PMID:22338606|REF_RGD_ID:6771363 11734904 DMD dystrophin gene DOID:5419 schizophrenia ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11734904 DMD dystrophin gene DOID:6000 congestive heart failure ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart failure PMID:25741868|PMID:28492532 11734904 DMD dystrophin gene DOID:630 genetic disease ISO RGD:736976 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19367636|PMID:21104870|PMID:25637381|PMID:25741868|PMID:26365249|PMID:26467025|PMID:28492532|PMID:31648988|PMID:33644936|PMID:35135626|PMID:36409343|PMID:9536098 11734904 DMD dystrophin gene DOID:767 muscular atrophy ISO RGD:736976 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Muscular atrophy PMID:25741868 11734904 DMD dystrophin gene DOID:820 myocarditis ISO RGD:10479 D RGD:9068941 20200609 RGD associated with Duchenne muscular dystrophy PMID:15917272|REF_RGD_ID:13702901 11734904 DMD dystrophin gene DOID:83 cataract disease_progression ISO RGD:10479 D RGD:9068941 20200609 RGD PMID:25489223|REF_RGD_ID:12879865 11734904 DMD dystrophin gene DOID:8466 retinal degeneration disease_progression ISO RGD:2507 D RGD:9068941 20200609 RGD PMID:10359335|REF_RGD_ID:1300412 11734904 DMD dystrophin gene DOID:9000373 Muscle Cramp ISO RGD:736976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle cramps PMID:16770791|PMID:17253928|PMID:25007885|PMID:25741868|PMID:28492532|PMID:34106991 11734904 DMD dystrophin gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:19937601|PMID:28492532 11734904 DMD dystrophin gene DOID:9000887 Muscular Dystrophy, Animal ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22795790 11734904 DMD dystrophin gene DOID:9000965 Neoplasm Metastasis ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24793134 11734904 DMD dystrophin gene DOID:9001510 Funnel Chest ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:16770791|PMID:17041906|PMID:23536893|PMID:25007885|PMID:25741868|PMID:26046366|PMID:28492532 11734904 DMD dystrophin gene DOID:9001836 Cardiac Conduction Defect ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:25741868|PMID:28492532 11734904 DMD dystrophin gene DOID:9002833 Exertional Myalgia, Muscle Stiffness and Myoglobinuria ISO RGD:736976 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Exertional myalgia, muscle stiffness and myoglobinuria PMID:19367636|PMID:21104870|PMID:25637381|PMID:25741868|PMID:26365249|PMID:26467025|PMID:28492532|PMID:31648988|PMID:33644936|PMID:35135626|PMID:36409343 11734904 DMD dystrophin gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:736976 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:25741868|PMID:28492532 11734904 DMD dystrophin gene DOID:9003139 Cardiac Fibrosis ISO RGD:2507 D RGD:9068941 20200609 RGD PMID:25310701|REF_RGD_ID:12880034 11734904 DMD dystrophin gene DOID:9003163 Heart Block ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:25741868|PMID:28492532 11734904 DMD dystrophin gene DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency ISO RGD:736976 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CYP21 deficiency PMID:24033266|PMID:25741868|PMID:28492532 11734904 DMD dystrophin gene DOID:9003936 Cardiomegaly ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23297412 11734904 DMD dystrophin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11734904 DMD dystrophin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24793134 11734904 DMD dystrophin gene DOID:9004866 Ataxia ISO RGD:736976 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:30074247 11734904 DMD dystrophin gene DOID:9005532 Muscle Weakness ISO RGD:736976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:16770791|PMID:17253928|PMID:25007885|PMID:25741868|PMID:28492532|PMID:34106991 11734904 DMD dystrophin gene DOID:9005749 Necrosis ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22795790 11734904 DMD dystrophin gene DOID:9006205 Animal Disease Models ISO RGD:736976 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:22795790|PMID:26930420|PMID:30074247 11734904 DMD dystrophin gene DOID:9006743 Spasm ISO RGD:736976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle spasm PMID:16770791|PMID:17253928|PMID:25007885|PMID:25741868|PMID:28492532|PMID:34106991 11734904 DMD dystrophin gene DOID:9007039 Ventricular Dysfunction ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21273767 11734904 DMD dystrophin gene DOID:9007090 Experimental Seizures ISO RGD:2507 D RGD:9068941 20200609 RGD PMID:9539217|REF_RGD_ID:12880363 11734904 DMD dystrophin gene DOID:9007993 Dehydration ISO RGD:2507 D RGD:9068941 20200609 RGD protein:decreased expression:neurohypophysial lobe: PMID:9858364|REF_RGD_ID:12880360 11734904 DMD dystrophin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24793134 11734904 DMD dystrophin gene DOID:9256 colorectal cancer ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 11734904 DMD dystrophin gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 11734904 DMD dystrophin gene DOID:930 orbital disease ISO RGD:736976 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Exophthalmos PMID:16770791|PMID:17041906|PMID:23536893|PMID:25007885|PMID:25741868|PMID:26046366|PMID:28492532 11734904 DMD dystrophin gene DOID:9883 Becker muscular dystrophy ISO RGD:736976 D RGD:7240710 20180228 OMIM 11734904 DMD dystrophin gene DOID:9883 Becker muscular dystrophy ISO RGD:736976 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Becker muscular dystrophy | ClinVar Annotator: match by term: Becker muscular dystrophy, atypical | ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type PMID:10094565|PMID:10320864|PMID:10464635|PMID:1047858|PMID:10533061|PMID:10832829|PMID:10909857|PMID:11039581|PMID:11053684|PMID:11241855|PMID:11257468|PMID:11524473|PMID:11710958|PMID:12233050|PMID:12354438|PMID:12359139|PMID:12467752|PMID:12522557|PMID:12632325|PMID:12754707|PMID:13679720|PMID:14659407|PMID:14695533|PMID:14973546|PMID:15253946|PMID:15351422|PMID:1549596|PMID:15643612|PMID:15655674|PMID:15723292|PMID:1577476|PMID:15952989|PMID:16049303|PMID:16199547|PMID:1632439|PMID:16566881|PMID:16770791|PMID:16834926|PMID:17041906|PMID:17145200|PMID:17253928|PMID:17259292|PMID:17435279|PMID:1757094|PMID:17576681|PMID:17726484|PMID:17826093|PMID:17854090|PMID:17880784|PMID:18583217|PMID:18652600|PMID:18653336|PMID:18663755|PMID:18846679|PMID:19074751|PMID:19158079|PMID:19206170|PMID:19367636|PMID:19409785|PMID:19449031|PMID:19530190|PMID:19602481|PMID:19760747|PMID:19783145|PMID:19793655|PMID:19823873|PMID:19937601|PMID:19959795|PMID:1996328|PMID:20098710|PMID:20485447|PMID:20696926|PMID:21104870|PMID:21396098|PMID:21399986|PMID:21515508|PMID:21520333|PMID:21525508|PMID:21681106|PMID:21851881|PMID:21969337|PMID:21972111|PMID:22223181|PMID:22678781|PMID:22776072|PMID:22894145|PMID:22910583|PMID:23251671|PMID:23299917|PMID:23299919|PMID:23453023|PMID:23536893|PMID:23588064|PMID:23756440|PMID:23757202|PMID:23871722|PMID:24033266|PMID:24055113|PMID:24066114|PMID:24265581|PMID:24292997|PMID:24300647|PMID:24349052|PMID:24690944|PMID:25007885|PMID:25163546|PMID:25227141|PMID:25231023|PMID:25244321|PMID:25333069|PMID:25447171|PMID:25474345|PMID:25525159|PMID:25612904|PMID:25636106|PMID:25637381|PMID:25741868|PMID:25761239|PMID:25972034|PMID:26046366|PMID:26066469|PMID:26260725|PMID:26284620|PMID:26350204|PMID:26365249|PMID:26392559|PMID:26455815|PMID:26467025|PMID:26594346|PMID:26743743|PMID:2677830|PMID:26911353|PMID:26934379|PMID:26968818|PMID:27122458|PMID:27178005|PMID:27263301|PMID:27363342|PMID:27582364|PMID:27593222|PMID:27708273|PMID:27750387|PMID:27896284|PMID:27898983|PMID:27930565|PMID:28100912|PMID:28116794|PMID:28181471|PMID:28181689|PMID:28318817|PMID:28416588|PMID:28492532|PMID:28503591|PMID:28701297|PMID:28750076|PMID:28798025|PMID:28859693|PMID:28878402|PMID:29188604|PMID:29196072|PMID:29365344|PMID:29511324|PMID:29517769|PMID:29581631|PMID:29604111|PMID:29610182|PMID:29641567|PMID:29792937|PMID:29847600|PMID:29874176|PMID:29961767|PMID:29970176|PMID:29973226|PMID:30086531|PMID:30342905|PMID:30467404|PMID:30833962|PMID:31081998|PMID:31127727|PMID:31216405|PMID:31333075|PMID:31404137|PMID:31412794|PMID:31443951|PMID:31568572|PMID:31648988|PMID:31671740|PMID:31708335|PMID:31727011|PMID:31983221|PMID:32047267|PMID:32194622|PMID:32419263|PMID:32559196|PMID:32669210|PMID:32746448|PMID:32813700|PMID:32969603|PMID:33101180|PMID:33106653|PMID:33420945|PMID:33644936|PMID:33829027|PMID:3393617|PMID:34008892|PMID:35135626|PMID:36409343|PMID:7041906|PMID:7599634|PMID:7599638|PMID:7611292|PMID:7668256|PMID:7849724|PMID:7881286|PMID:7951253|PMID:7981690|PMID:8279470|PMID:8281150|PMID:8301652|PMID:8322822|PMID:8401537|PMID:8504498|PMID:8789442|PMID:8840119|PMID:9067763|PMID:9170407|PMID:9410897|PMID:9536098|PMID:9544849|PMID:9805122 11734904 DMD dystrophin gene DOID:9884 muscular dystrophy ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:10465346|PMID:11185740|PMID:1549142|PMID:16030524|PMID:16770791|PMID:18752307|PMID:19449031|PMID:20031633|PMID:20301298|PMID:2063877|PMID:23299919|PMID:24033266|PMID:24135430|PMID:25007885|PMID:25244321|PMID:25741868|PMID:28492532|PMID:9327405 11735009 GML glycosylphosphatidylinositol anchored molecule like gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1317284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 11735009 GML glycosylphosphatidylinositol anchored molecule like gene DOID:4621 holoprosencephaly ISO RGD:1317284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11735009 GML glycosylphosphatidylinositol anchored molecule like gene DOID:630 genetic disease ISO RGD:1317284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735017 ANXA13 annexin A13 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1316801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11735017 ANXA13 annexin A13 gene DOID:630 genetic disease ISO RGD:1316801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735031 ECSIT ECSIT signaling integrator gene DOID:0050990 episodic ataxia type 2 ISO RGD:1602709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11735031 ECSIT ECSIT signaling integrator gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1602709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11735031 ECSIT ECSIT signaling integrator gene DOID:0111254 glutaric acidemia I ISO RGD:1602709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11735031 ECSIT ECSIT signaling integrator gene DOID:3413 alpha-mannosidosis ISO RGD:1602709 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11735031 ECSIT ECSIT signaling integrator gene DOID:630 genetic disease ISO RGD:1602709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735052 NKX2-5 NK2 homeobox 5 gene DOID:0050651 atrioventricular septal defect ISO RGD:1606841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, somatic PMID:15342699|PMID:15917268 11735052 NKX2-5 NK2 homeobox 5 gene DOID:0050820 atrioventricular block ISO RGD:1606841 D RGD:9068941 20200609 RGD DNA:nonsense mutation:exon:p.Y256X (c.768T>A) (human) PMID:16896344|REF_RGD_ID:12914775 11735052 NKX2-5 NK2 homeobox 5 gene DOID:0050822 second-degree atrioventricular block ISO RGD:1606841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular block, idiopathic second-degree PMID:10587520 11735052 NKX2-5 NK2 homeobox 5 gene DOID:0060224 atrial fibrillation ISO RGD:1606841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062060|PMID:29892015|PMID:30061737 11735052 NKX2-5 NK2 homeobox 5 gene DOID:0070125 congenital nongoitrous hypothyroidism 5 ISO RGD:1606841 D RGD:7240710 20180130 OMIM 11735052 NKX2-5 NK2 homeobox 5 gene DOID:0070125 congenital nongoitrous hypothyroidism 5 ISO RGD:1606841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5 PMID:10587520|PMID:10903346|PMID:11714651|PMID:12074273|PMID:12798584|PMID:14607454|PMID:15161646|PMID:15917268|PMID:16418214|PMID:17544441|PMID:17891434|PMID:18414213|PMID:19073351|PMID:19464101|PMID:19533775|PMID:19933292|PMID:19948535|PMID:20456451|PMID:20807224|PMID:21110066|PMID:22920929|PMID:23285148|PMID:23661673|PMID:24033266|PMID:24376681|PMID:25741868|PMID:26805889|PMID:27152669|PMID:27904570|PMID:28166811|PMID:28492532|PMID:28536625|PMID:29368431|PMID:30508507|PMID:31824610|PMID:31983221|PMID:32369864|PMID:32425884 11735052 NKX2-5 NK2 homeobox 5 gene DOID:0080334 aortic valve disease 2 ISO RGD:1606841 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.Q22K, p.R36S, p.E54K (human) PMID:22179962|REF_RGD_ID:12914791 11735052 NKX2-5 NK2 homeobox 5 gene DOID:0080334 aortic valve disease 2 ISO RGD:1606841 D RGD:9068941 20200609 RGD DNA:nonsense mutation:exon:p.K192X (human) PMID:25438918|REF_RGD_ID:12914790 11735052 NKX2-5 NK2 homeobox 5 gene DOID:0110112 atrial heart septal defect 7 ISO RGD:1606841 D RGD:7240710 20180130 OMIM 11735052 NKX2-5 NK2 homeobox 5 gene DOID:0110112 atrial heart septal defect 7 ISO RGD:1606841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect 7 with or without atrioventricular conduction defects | ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:10021345|PMID:10587520|PMID:10903346|PMID:10943630|PMID:10948187|PMID:11714651|PMID:12074273|PMID:12112663|PMID:12414819|PMID:1260978|PMID:12798584|PMID:14607454|PMID:15161646|PMID:15342699|PMID:15364612|PMID:15689439|PMID:15810002|PMID:15917268|PMID:16418214|PMID:16896344|PMID:17544441|PMID:17891434|PMID:17891520|PMID:18414213|PMID:18976153|PMID:19073351|PMID:19181906|PMID:19464101|PMID:19533775|PMID:19678963|PMID:19933292|PMID:19948535|PMID:20022124|PMID:20456451|PMID:20725931|PMID:20807224|PMID:20981092|PMID:21091212|PMID:21110066|PMID:21561848|PMID:21677783|PMID:22179962|PMID:22920929|PMID:22995991|PMID:23285148|PMID:23661673|PMID:24033266|PMID:24376681|PMID:24880466|PMID:25028484|PMID:25205790|PMID:25319568|PMID:25741868|PMID:25742962|PMID:26014430|PMID:26146939|PMID:26334177|PMID:26467025|PMID:26805889|PMID:27013732|PMID:27152669|PMID:27788187|PMID:27855642|PMID:27904570|PMID:28166811|PMID:28302382|PMID:28341588|PMID:28455095|PMID:28492532|PMID:28536625|PMID:28690296|PMID:29037160|PMID:29368431|PMID:29568389|PMID:29745128|PMID:30240412|PMID:30354339|PMID:30508507|PMID:30611920|PMID:30982828|PMID:31824610|PMID:31983221|PMID:32369864|PMID:32425884|PMID:33082984|PMID:33835496|PMID:34214246|PMID:9651244 11735052 NKX2-5 NK2 homeobox 5 gene DOID:0112232 lissencephaly 3 ISO RGD:1606841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation PMID:18414213|PMID:18976153|PMID:19181906|PMID:19464101|PMID:20981092|PMID:22995991|PMID:24033266|PMID:24376681|PMID:25741868|PMID:28492532 11735052 NKX2-5 NK2 homeobox 5 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1606841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 11735052 NKX2-5 NK2 homeobox 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:1606841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10587520|PMID:25741868|PMID:28492532 11735052 NKX2-5 NK2 homeobox 5 gene DOID:1657 ventricular septal defect ISO RGD:1606841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11735052 NKX2-5 NK2 homeobox 5 gene DOID:1657 ventricular septal defect ISO RGD:1606841 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.P59A (c.175C>G) (human) PMID:21165553|REF_RGD_ID:12914792 11735052 NKX2-5 NK2 homeobox 5 gene DOID:1681 heart septal defect ISO RGD:1606841 D RGD:9068941 20200609 RGD PMID:12112663|REF_RGD_ID:1581130 11735052 NKX2-5 NK2 homeobox 5 gene DOID:1682 congenital heart disease ISO RGD:1606841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital heart disease | ClinVar Annotator: match by term: Heart, malformation of | ClinVar Annotator: match by term: Malformation of the heart and great vessels PMID:10587520|PMID:10903346|PMID:11714651|PMID:12074273|PMID:14607454|PMID:16418214|PMID:17891434|PMID:18414213|PMID:19073351|PMID:19464101|PMID:19533775|PMID:19948535|PMID:20456451|PMID:20807224|PMID:22920929|PMID:24033266|PMID:25741868|PMID:28492532 11735052 NKX2-5 NK2 homeobox 5 gene DOID:1682 congenital heart disease no_association ISO RGD:1606841 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.A119S (human) PMID:23285148|REF_RGD_ID:7247738 11735052 NKX2-5 NK2 homeobox 5 gene DOID:1882 atrial heart septal defect ISO RGD:1606841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:10587520|PMID:18414213|PMID:18976153|PMID:19181906|PMID:19464101|PMID:20981092|PMID:22995991|PMID:24033266|PMID:24376681|PMID:25741868|PMID:28492532 11735052 NKX2-5 NK2 homeobox 5 gene DOID:3770 pulmonary fibrosis ISO RGD:620520 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung, fibroblast PMID:19395679|REF_RGD_ID:5131637 11735052 NKX2-5 NK2 homeobox 5 gene DOID:450 myotonic disease ISO RGD:1606841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18084293 11735052 NKX2-5 NK2 homeobox 5 gene DOID:630 genetic disease ISO RGD:1606841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10587520|PMID:11714651|PMID:15689439|PMID:22920929|PMID:25741868|PMID:28166811|PMID:28492532|PMID:34214246 11735052 NKX2-5 NK2 homeobox 5 gene DOID:6419 tetralogy of Fallot ISO RGD:1606841 D RGD:7240710 20180130 OMIM 11735052 NKX2-5 NK2 homeobox 5 gene DOID:6419 tetralogy of Fallot ISO RGD:1606841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot PMID:10587520|PMID:10903346|PMID:11714651|PMID:12074273|PMID:12798584|PMID:14607454|PMID:15161646|PMID:15917268|PMID:16418214|PMID:17544441|PMID:17891434|PMID:18414213|PMID:19073351|PMID:19464101|PMID:19533775|PMID:19933292|PMID:19948535|PMID:20456451|PMID:20807224|PMID:21110066|PMID:22920929|PMID:24033266|PMID:24376681|PMID:25741868|PMID:26805889|PMID:27152669|PMID:27904570|PMID:28166811|PMID:28492532|PMID:28536625|PMID:29368431|PMID:30508507|PMID:31824610|PMID:31983221|PMID:32369864|PMID:32425884 11735052 NKX2-5 NK2 homeobox 5 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1606841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:10587520|PMID:25741868|PMID:28492532 11735052 NKX2-5 NK2 homeobox 5 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:731878 D RGD:9068941 20200609 RGD PMID:11457872|REF_RGD_ID:12914774 11735052 NKX2-5 NK2 homeobox 5 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1606841 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:14607454|PMID:18414213|PMID:19181906|PMID:22179962|PMID:25741868|PMID:28492532|PMID:31824610|PMID:33835496 11735052 NKX2-5 NK2 homeobox 5 gene DOID:9003006 Ventricular Septal Defect 3 ISO RGD:1606841 D RGD:7240710 20180130 OMIM 11735052 NKX2-5 NK2 homeobox 5 gene DOID:9003006 Ventricular Septal Defect 3 ISO RGD:1606841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ventricular septal defect 3 PMID:10587520|PMID:11714651|PMID:12074273|PMID:12798584|PMID:14607454|PMID:15161646|PMID:15917268|PMID:17544441|PMID:18414213|PMID:19933292|PMID:20659440|PMID:21110066|PMID:21165553|PMID:22920929|PMID:24033266|PMID:24376681|PMID:25741868|PMID:26805889|PMID:27152669|PMID:27904570|PMID:28166811|PMID:28492532|PMID:28536625|PMID:29368431|PMID:30508507|PMID:31824610|PMID:31983221|PMID:32369864|PMID:32425884 11735052 NKX2-5 NK2 homeobox 5 gene DOID:9003735 Splenic Hypoplasia ISO RGD:1606841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asplenia, isolated congenital PMID:20846672|PMID:22560297|PMID:23579497 11735052 NKX2-5 NK2 homeobox 5 gene DOID:9003936 Cardiomegaly ISO RGD:1606841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28973413 11735052 NKX2-5 NK2 homeobox 5 gene DOID:9005839 Hypoplastic Left Heart Syndrome 2 ISO RGD:1606841 D RGD:7240710 20180130 OMIM 11735052 NKX2-5 NK2 homeobox 5 gene DOID:9005839 Hypoplastic Left Heart Syndrome 2 ISO RGD:1606841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome 2 PMID:10587520|PMID:10903346|PMID:11714651|PMID:12074273|PMID:12798584|PMID:14607454|PMID:15161646|PMID:15917268|PMID:16418214|PMID:17544441|PMID:17891434|PMID:18414213|PMID:19073351|PMID:19464101|PMID:19533775|PMID:19933292|PMID:19948535|PMID:20456451|PMID:20807224|PMID:21110066|PMID:22920929|PMID:24033266|PMID:24376681|PMID:25741868|PMID:26805889|PMID:27152669|PMID:27904570|PMID:28166811|PMID:28492532|PMID:28536625|PMID:29368431|PMID:30508507|PMID:31824610|PMID:31983221|PMID:32369864|PMID:32425884 11735052 NKX2-5 NK2 homeobox 5 gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:1606841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:10021345|PMID:10587520|PMID:10903346|PMID:10943630|PMID:10948187|PMID:11714651|PMID:12074273|PMID:12112663|PMID:12414819|PMID:1260978|PMID:12798584|PMID:14607454|PMID:15161646|PMID:15342699|PMID:15364612|PMID:15689439|PMID:15810002|PMID:15917268|PMID:16418214|PMID:16896344|PMID:17544441|PMID:17891434|PMID:17891520|PMID:18414213|PMID:18976153|PMID:19073351|PMID:19181906|PMID:19464101|PMID:19533775|PMID:19678963|PMID:19933292|PMID:19948535|PMID:20022124|PMID:20456451|PMID:20725931|PMID:20807224|PMID:20981092|PMID:21091212|PMID:21110066|PMID:21561848|PMID:21677783|PMID:22179962|PMID:22920929|PMID:22995991|PMID:23285148|PMID:23661673|PMID:24033266|PMID:24376681|PMID:24880466|PMID:25028484|PMID:25205790|PMID:25319568|PMID:25741868|PMID:25742962|PMID:26014430|PMID:26146939|PMID:26334177|PMID:26467025|PMID:26805889|PMID:27013732|PMID:27152669|PMID:27788187|PMID:27855642|PMID:27904570|PMID:28166811|PMID:28302382|PMID:28341588|PMID:28455095|PMID:28492532|PMID:28536625|PMID:28690296|PMID:29037160|PMID:29368431|PMID:29568389|PMID:29745128|PMID:30240412|PMID:30354339|PMID:30508507|PMID:30611920|PMID:30982828|PMID:31824610|PMID:31983221|PMID:32369864|PMID:32425884|PMID:33082984|PMID:33835496|PMID:34214246|PMID:9651244 11735052 NKX2-5 NK2 homeobox 5 gene DOID:9007096 Stroke ISO RGD:1606841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 11735052 NKX2-5 NK2 homeobox 5 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1606841 D RGD:7240710 20180530 OMIM 11735052 NKX2-5 NK2 homeobox 5 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1606841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis PMID:10587520|PMID:10903346|PMID:11714651|PMID:12074273|PMID:12798584|PMID:14607454|PMID:15161646|PMID:15917268|PMID:16418214|PMID:17544441|PMID:17891434|PMID:18414213|PMID:19073351|PMID:19464101|PMID:19533775|PMID:19933292|PMID:19948535|PMID:20456451|PMID:20807224|PMID:21110066|PMID:22920929|PMID:24033266|PMID:24376681|PMID:25741868|PMID:26805889|PMID:27152669|PMID:27904570|PMID:28492532|PMID:28536625|PMID:29368431|PMID:30508507|PMID:31824610|PMID:31983221|PMID:32369864|PMID:32425884 11735052 NKX2-5 NK2 homeobox 5 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1606841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis PMID:10587520|PMID:10903346|PMID:11714651|PMID:12074273|PMID:12798584|PMID:14607454|PMID:15161646|PMID:15917268|PMID:16418214|PMID:17544441|PMID:17891434|PMID:18414213|PMID:19073351|PMID:19464101|PMID:19533775|PMID:19933292|PMID:19948535|PMID:20456451|PMID:20807224|PMID:21110066|PMID:22920929|PMID:24033266|PMID:24376681|PMID:25741868|PMID:26805889|PMID:27152669|PMID:27904570|PMID:28166811|PMID:28492532|PMID:28536625|PMID:29368431|PMID:30508507|PMID:31824610|PMID:31983221|PMID:32369864|PMID:32425884 11735052 NKX2-5 NK2 homeobox 5 gene DOID:9008306 Common Ventricle ISO RGD:1606841 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Single ventricle PMID:19948535|PMID:23285148|PMID:25742962|PMID:28492532|PMID:29037160|PMID:30611920 11735052 NKX2-5 NK2 homeobox 5 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1606841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11735052 NKX2-5 NK2 homeobox 5 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:731878 D RGD:9068941 20220825 MouseDO OMIM:241550 | OMIM:614435 11735067 ZNF385C zinc finger protein 385C gene DOID:630 genetic disease ISO RGD:1604507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735082 FAAH fatty acid amide hydrolase gene DOID:0060001 withdrawal disorder ISO RGD:737052 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18705688|PMID:19002671 11735082 FAAH fatty acid amide hydrolase gene DOID:12858 Huntington's disease ISO RGD:737052 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20929960 11735082 FAAH fatty acid amide hydrolase gene DOID:303 substance-related disorder ISO RGD:737052 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polysubstance abuse, susceptibility to PMID:12060782|PMID:15254019|PMID:16972078|PMID:23556448|PMID:25741868 11735082 FAAH fatty acid amide hydrolase gene DOID:303 substance-related disorder susceptibility ISO RGD:737052 D RGD:7240710 20190502 OMIM 11735082 FAAH fatty acid amide hydrolase gene DOID:630 genetic disease ISO RGD:737052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735082 FAAH fatty acid amide hydrolase gene DOID:9004702 Pregnancy Complications ISO RGD:737052 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16886060 11735082 FAAH fatty acid amide hydrolase gene DOID:9970 obesity ISO RGD:737052 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19103437|PMID:20716455 11735082 FAAH fatty acid amide hydrolase gene DOID:9970 obesity ISO RGD:737052 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15809662|REF_RGD_ID:1625726 11735082 FAAH fatty acid amide hydrolase gene DOID:9974 drug dependence ISO RGD:737052 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Drug addiction, susceptibility to PMID:12060782|PMID:15254019|PMID:16972078|PMID:23556448|PMID:25741868 11735102 GGCT gamma-glutamylcyclotransferase gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1312569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 11735102 GGCT gamma-glutamylcyclotransferase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11735102 GGCT gamma-glutamylcyclotransferase gene DOID:630 genetic disease ISO RGD:1312569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735102 GGCT gamma-glutamylcyclotransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11735117 FRAS1 Fraser extracellular matrix complex subunit 1 gene DOID:0080205 CAKUT ISO RGD:1315178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:12766769|PMID:18671281|PMID:25741868|PMID:28492532|PMID:28844315|PMID:30143558|PMID:34246755 11735117 FRAS1 Fraser extracellular matrix complex subunit 1 gene DOID:0090001 Fraser syndrome ISO RGD:1315178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cryptophthalmos with other malformations PMID:12766769|PMID:18671281|PMID:25741868|PMID:28492532|PMID:28844315|PMID:34246755 11735117 FRAS1 Fraser extracellular matrix complex subunit 1 gene DOID:0110839 Usher syndrome type 2C ISO RGD:1315178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2C PMID:21900877|PMID:25741868|PMID:28492532 11735117 FRAS1 Fraser extracellular matrix complex subunit 1 gene DOID:0111405 Fraser syndrome 1 ISO RGD:1315178 D RGD:7240710 20180130 OMIM 11735117 FRAS1 Fraser extracellular matrix complex subunit 1 gene DOID:0111405 Fraser syndrome 1 ISO RGD:1315178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fraser syndrome 1 PMID:12766769|PMID:16199547|PMID:16894541|PMID:17163535|PMID:17576681|PMID:18671281|PMID:21900877|PMID:22029163|PMID:23532946|PMID:24476948|PMID:24551978|PMID:24583203|PMID:24700879|PMID:25353622|PMID:25741868|PMID:26302956|PMID:26893459|PMID:27280866|PMID:27859469|PMID:27884173|PMID:28492532|PMID:28844315|PMID:29261186|PMID:30639323|PMID:31319225|PMID:31738409|PMID:31999076|PMID:33726816|PMID:34246755|PMID:34974531|PMID:35005812|PMID:9536098 11735117 FRAS1 Fraser extracellular matrix complex subunit 1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1315178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:24700879|PMID:25353622|PMID:26893459|PMID:28492532 11735117 FRAS1 Fraser extracellular matrix complex subunit 1 gene DOID:10907 microcephaly ISO RGD:1315178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11735117 FRAS1 Fraser extracellular matrix complex subunit 1 gene DOID:11836 clubfoot ISO RGD:1315179 D RGD:9068941 20220825 MouseDO OMIM:119800 11735117 FRAS1 Fraser extracellular matrix complex subunit 1 gene DOID:14686 Axenfeld-Rieger syndrome ISO RGD:1315178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rieger anomaly PMID:26893459|PMID:28492532 11735117 FRAS1 Fraser extracellular matrix complex subunit 1 gene DOID:14766 renal agenesis ISO RGD:1315178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal agenesis PMID:25741868|PMID:35005812 11735117 FRAS1 Fraser extracellular matrix complex subunit 1 gene DOID:2661 myoepithelioma ISO RGD:1315178 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11735117 FRAS1 Fraser extracellular matrix complex subunit 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1315178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia PMID:25741868|PMID:28492532 11735117 FRAS1 Fraser extracellular matrix complex subunit 1 gene DOID:630 genetic disease ISO RGD:1315178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32643034 11735117 FRAS1 Fraser extracellular matrix complex subunit 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1315178 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11735117 FRAS1 Fraser extracellular matrix complex subunit 1 gene DOID:9008205 Macrostomia ISO RGD:1315178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17163535 11735205 RBP2 retinol binding protein 2 gene DOID:630 genetic disease ISO RGD:734415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735213 BAG2 BAG cochaperone 2 gene DOID:0060234 Carpenter syndrome ISO RGD:1343744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome 11735213 BAG2 BAG cochaperone 2 gene DOID:630 genetic disease ISO RGD:1343744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735213 BAG2 BAG cochaperone 2 gene DOID:9005101 Carpenter Syndrome 1 ISO RGD:1343744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 1 11735229 SLC25A38 solute carrier family 25 member 38 gene DOID:0060063 sideroblastic anemia 1 ISO RGD:1606272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia PMID:28492532 11735229 SLC25A38 solute carrier family 25 member 38 gene DOID:0060065 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 ISO RGD:1606272 D RGD:7240710 20180130 OMIM 11735229 SLC25A38 solute carrier family 25 member 38 gene DOID:0060065 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 ISO RGD:1606272 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Anemia, sideroblastic, 2, pyridoxine-refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive | ClinVar Annotator: match by term: Sideroblastic anemia pyridoxine-refractory autosomal recessive PMID:19412178|PMID:21393332|PMID:24323989|PMID:25326635|PMID:25512395|PMID:25741868|PMID:25985931|PMID:26636621|PMID:28492532|PMID:28772256|PMID:29499877|PMID:29786897|PMID:30214775|PMID:30735661|PMID:31338833|PMID:31642437|PMID:32605921|PMID:32790119|PMID:33256393|PMID:34298585 11735229 SLC25A38 solute carrier family 25 member 38 gene DOID:630 genetic disease ISO RGD:1606272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11735229 SLC25A38 solute carrier family 25 member 38 gene DOID:8955 sideroblastic anemia ISO RGD:1606272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19412178 11735243 GADD45GIP1 GADD45G interacting protein 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1319487 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11735243 GADD45GIP1 GADD45G interacting protein 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1319487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11735243 GADD45GIP1 GADD45G interacting protein 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1319487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11735243 GADD45GIP1 GADD45G interacting protein 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1319487 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11735243 GADD45GIP1 GADD45G interacting protein 1 gene DOID:630 genetic disease ISO RGD:1319487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735243 GADD45GIP1 GADD45G interacting protein 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1319488 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 11735249 ACSBG1 acyl-CoA synthetase bubblegum family member 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:733957 D RGD:9068941 20200609 RGD PMID:15800013|REF_RGD_ID:11065111 11735249 ACSBG1 acyl-CoA synthetase bubblegum family member 1 gene DOID:2717 Bloom syndrome ISO RGD:733957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11735249 ACSBG1 acyl-CoA synthetase bubblegum family member 1 gene DOID:3213 demyelinating disease ISO RGD:1557638 D RGD:9068941 20200609 RGD PMID:17722065|REF_RGD_ID:13831132 11735249 ACSBG1 acyl-CoA synthetase bubblegum family member 1 gene DOID:630 genetic disease ISO RGD:733957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735249 ACSBG1 acyl-CoA synthetase bubblegum family member 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733957 D RGD:9068941 20200609 RGD associated with pheochromocytoma PMID:29067245|REF_RGD_ID:13831131 11735249 ACSBG1 acyl-CoA synthetase bubblegum family member 1 gene DOID:9256 colorectal cancer ISO RGD:733957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11735270 AKAP3 A-kinase anchoring protein 3 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1348905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 11735270 AKAP3 A-kinase anchoring protein 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1348905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11735270 AKAP3 A-kinase anchoring protein 3 gene DOID:630 genetic disease ISO RGD:1348905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735270 AKAP3 A-kinase anchoring protein 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1348905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11735270 AKAP3 A-kinase anchoring protein 3 gene DOID:9008398 Spermatogenic Failure 82 ISO RGD:1348905 D RGD:7240710 20230505 OMIM 11735280 ANP32D acidic nuclear phosphoprotein 32 family member D gene DOID:630 genetic disease ISO RGD:1351063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735283 C1D C1D nuclear receptor corepressor gene DOID:630 genetic disease ISO RGD:1607075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735295 LOC100988969 39S ribosomal protein L53, mitochondrial gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1606203 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11735295 LOC100988969 39S ribosomal protein L53, mitochondrial gene DOID:543 dystonia ISO RGD:1606203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11735295 LOC100988969 39S ribosomal protein L53, mitochondrial gene DOID:630 genetic disease ISO RGD:1606203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735295 LOC100988969 39S ribosomal protein L53, mitochondrial gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1606203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11735316 CENPV centromere protein V gene DOID:630 genetic disease ISO RGD:1351678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735325 FLYWCH2 FLYWCH family member 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1602659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11735325 FLYWCH2 FLYWCH family member 2 gene DOID:1826 epilepsy ISO RGD:1602659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11735325 FLYWCH2 FLYWCH family member 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1602659 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11735325 FLYWCH2 FLYWCH family member 2 gene DOID:630 genetic disease ISO RGD:1602659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735346 PI15 peptidase inhibitor 15 gene DOID:630 genetic disease ISO RGD:1319988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735356 BAAT bile acid-CoA:amino acid N-acyltransferase gene DOID:0014667 disease of metabolism susceptibility ISO RGD:735913 D RGD:9068941 20200611 RGD familial hypercholanemia, OMIM:607748;DNA:transition: :226A>G (human) PMID:12704386|REF_RGD_ID:734629 11735356 BAAT bile acid-CoA:amino acid N-acyltransferase gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:735913 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:17182750|PMID:20301541 11735356 BAAT bile acid-CoA:amino acid N-acyltransferase gene DOID:1059 intellectual disability ISO RGD:735913 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11735356 BAAT bile acid-CoA:amino acid N-acyltransferase gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:735913 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:18541450|PMID:28492532 11735356 BAAT bile acid-CoA:amino acid N-acyltransferase gene DOID:630 genetic disease ISO RGD:735913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735356 BAAT bile acid-CoA:amino acid N-acyltransferase gene DOID:9004162 BILE ACID CONJUGATION DEFECT 1 ISO RGD:735913 D RGD:7240710 20210512 OMIM 11735356 BAAT bile acid-CoA:amino acid N-acyltransferase gene DOID:9004162 BILE ACID CONJUGATION DEFECT 1 ISO RGD:735913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bile acid conjugation defect 1 PMID:12704386|PMID:23415802|PMID:25741868|PMID:28492532 11735356 BAAT bile acid-CoA:amino acid N-acyltransferase gene DOID:9004484 Sepsis ISO RGD:2190 D RGD:9068941 20200611 RGD PMID:7575455|REF_RGD_ID:69770 11735356 BAAT bile acid-CoA:amino acid N-acyltransferase gene DOID:9005961 Familial Hypercholanemia 1 ISO RGD:735913 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholanemia, familial 1 PMID:17495420|PMID:24033266|PMID:25741868|PMID:28492532 11735356 BAAT bile acid-CoA:amino acid N-acyltransferase gene DOID:9007118 Familial Hypercholanemia ISO RGD:735913 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholanemia, familial 11735356 BAAT bile acid-CoA:amino acid N-acyltransferase gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:735913 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose intolerance PMID:18541450|PMID:28492532 11735369 EPB41 erythrocyte membrane protein band 4.1 gene DOID:1909 melanoma ISO RGD:1605128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 11735369 EPB41 erythrocyte membrane protein band 4.1 gene DOID:2373 hereditary elliptocytosis ISO RGD:1605128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary elliptocytosis 11735369 EPB41 erythrocyte membrane protein band 4.1 gene DOID:583 hemolytic anemia ISO RGD:1557540 D RGD:9068941 20200609 RGD PMID:9927493|REF_RGD_ID:11252099 11735369 EPB41 erythrocyte membrane protein band 4.1 gene DOID:630 genetic disease ISO RGD:1605128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11735369 EPB41 erythrocyte membrane protein band 4.1 gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:1557540 D RGD:9068941 20200609 RGD PMID:9822582|REF_RGD_ID:11252098 11735369 EPB41 erythrocyte membrane protein band 4.1 gene DOID:9005732 Elliptocytosis 1 ISO RGD:1605128 D RGD:7240710 20180130 OMIM 11735369 EPB41 erythrocyte membrane protein band 4.1 gene DOID:9005732 Elliptocytosis 1 ISO RGD:1605128 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Elliptocytosis 1 PMID:1430200|PMID:21839655|PMID:2384597|PMID:2384598|PMID:25741868|PMID:27551681|PMID:27667160|PMID:28492532|PMID:3134067|PMID:3194408|PMID:33942936|PMID:3722387|PMID:3965051|PMID:6894932|PMID:7255153|PMID:7627190|PMID:8423235 11735423 CCKBR cholecystokinin B receptor gene DOID:0060001 withdrawal disorder ISO RGD:735565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11880531|PMID:9496717 11735423 CCKBR cholecystokinin B receptor gene DOID:0060180 colitis ISO RGD:2290 D RGD:9068941 20200609 RGD PMID:15102523|REF_RGD_ID:2311333 11735423 CCKBR cholecystokinin B receptor gene DOID:10933 obsessive-compulsive disorder ISO RGD:735565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8878350 11735423 CCKBR cholecystokinin B receptor gene DOID:14115 toxic shock syndrome ISO RGD:2290 D RGD:9068941 20200609 RGD mRNA:increased expression:myocardium PMID:15948246|REF_RGD_ID:2311332 11735423 CCKBR cholecystokinin B receptor gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11735423 CCKBR cholecystokinin B receptor gene DOID:1793 pancreatic cancer ISO RGD:2290 D RGD:9068941 20200609 RGD PMID:1458479|REF_RGD_ID:4110821 11735423 CCKBR cholecystokinin B receptor gene DOID:1793 pancreatic cancer ISO RGD:2290 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:8222074|REF_RGD_ID:4110822 11735423 CCKBR cholecystokinin B receptor gene DOID:1793 pancreatic cancer disease_progression ISO RGD:2290 D RGD:9068941 20200609 RGD PMID:8302799|REF_RGD_ID:4110823 11735423 CCKBR cholecystokinin B receptor gene DOID:1793 pancreatic cancer susceptibility ISO RGD:735565 D RGD:9068941 20200609 RGD PMID:15688412|REF_RGD_ID:4110829 11735423 CCKBR cholecystokinin B receptor gene DOID:3587 pancreatic ductal carcinoma ISO RGD:735565 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:12851875|REF_RGD_ID:4110816 11735423 CCKBR cholecystokinin B receptor gene DOID:594 panic disorder ISO RGD:735565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8878350 11735423 CCKBR cholecystokinin B receptor gene DOID:594 panic disorder ISO RGD:735565 D RGD:9068941 20200609 RGD PMID:15354400|REF_RGD_ID:1358454 11735423 CCKBR cholecystokinin B receptor gene DOID:630 genetic disease ISO RGD:735565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735423 CCKBR cholecystokinin B receptor gene DOID:9000641 Pain ISO RGD:2290 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16527403|REF_RGD_ID:2311323 11735423 CCKBR cholecystokinin B receptor gene DOID:9002211 Hyperalgesia ISO RGD:2290 D RGD:9068941 20200609 RGD PMID:15647484|REF_RGD_ID:1626108 11735423 CCKBR cholecystokinin B receptor gene DOID:9002211 Hyperalgesia ISO RGD:735565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11880531 11735423 CCKBR cholecystokinin B receptor gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9922984 11735423 CCKBR cholecystokinin B receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2290 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:pancreas PMID:15161757|REF_RGD_ID:1358452 11735434 CCDC7 coiled-coil domain containing 7 gene DOID:630 genetic disease ISO RGD:1346795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735490 RBM27 RNA binding motif protein 27 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1323694 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11735490 RBM27 RNA binding motif protein 27 gene DOID:630 genetic disease ISO RGD:1323694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735490 RBM27 RNA binding motif protein 27 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11735490 RBM27 RNA binding motif protein 27 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323694 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11735525 TMEM101 transmembrane protein 101 gene DOID:630 genetic disease ISO RGD:1601840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735537 AP3B2 adaptor related protein complex 3 subunit beta 2 gene DOID:0080448 developmental and epileptic encephalopathy 48 ISO RGD:1319021 D RGD:7240710 20190315 OMIM 11735537 AP3B2 adaptor related protein complex 3 subunit beta 2 gene DOID:0080448 developmental and epileptic encephalopathy 48 ISO RGD:1319021 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 48 PMID:17576681|PMID:18414213|PMID:25741868|PMID:27431290|PMID:27889060|PMID:28492532|PMID:9536098 11735537 AP3B2 adaptor related protein complex 3 subunit beta 2 gene DOID:1059 intellectual disability ISO RGD:1319021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11735537 AP3B2 adaptor related protein complex 3 subunit beta 2 gene DOID:10907 microcephaly ISO RGD:1319021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11735537 AP3B2 adaptor related protein complex 3 subunit beta 2 gene DOID:12849 autistic disorder ISO RGD:1319021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868|PMID:28492532 11735537 AP3B2 adaptor related protein complex 3 subunit beta 2 gene DOID:13938 amenorrhea ISO RGD:1319021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11735537 AP3B2 adaptor related protein complex 3 subunit beta 2 gene DOID:1826 epilepsy ISO RGD:1319021 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11735537 AP3B2 adaptor related protein complex 3 subunit beta 2 gene DOID:2717 Bloom syndrome ISO RGD:1319021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11735537 AP3B2 adaptor related protein complex 3 subunit beta 2 gene DOID:630 genetic disease ISO RGD:1319021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 11735537 AP3B2 adaptor related protein complex 3 subunit beta 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:1319021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:18414213|PMID:27889060 11735537 AP3B2 adaptor related protein complex 3 subunit beta 2 gene DOID:9256 colorectal cancer ISO RGD:1319021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:28492532 11735572 RGS22 regulator of G protein signaling 22 gene DOID:0111590 Cohen syndrome ISO RGD:1606803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 11735572 RGS22 regulator of G protein signaling 22 gene DOID:630 genetic disease ISO RGD:1606803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735606 LYN LYN proto-oncogene, Src family tyrosine kinase gene DOID:0080600 COVID-19 ISO RGD:732668 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11735606 LYN LYN proto-oncogene, Src family tyrosine kinase gene DOID:0080855 Parkinsonism ISO RGD:621017 D RGD:9068941 20200609 RGD PMID:16529858|REF_RGD_ID:1581410 11735606 LYN LYN proto-oncogene, Src family tyrosine kinase gene DOID:289 endometriosis ISO RGD:621017 D RGD:9068941 20200609 RGD mRNA:increased expression:uterus PMID:17845203|REF_RGD_ID:2303708 11735606 LYN LYN proto-oncogene, Src family tyrosine kinase gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:732668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11735606 LYN LYN proto-oncogene, Src family tyrosine kinase gene DOID:630 genetic disease ISO RGD:732668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11735606 LYN LYN proto-oncogene, Src family tyrosine kinase gene DOID:9003936 Cardiomegaly ISO RGD:621017 D RGD:9068941 20200609 RGD PMID:17039281|REF_RGD_ID:2303711 11735606 LYN LYN proto-oncogene, Src family tyrosine kinase gene DOID:9074 systemic lupus erythematosus ISO RGD:732669 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 11735671 IL32 interleukin 32 gene DOID:0080356 IgG4-related disease treatment ISO RGD:1350575 D RGD:9068941 20210903 RGD PMID:26375328|REF_RGD_ID:150340730 11735671 IL32 interleukin 32 gene DOID:0080827 human cytomegalovirus infection exacerbates ISO RGD:1350575 D RGD:9068941 20210903 RGD protein:increased expression:blood serum (human) PMID:23402302|REF_RGD_ID:150340723 11735671 IL32 interleukin 32 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1350575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11735671 IL32 interleukin 32 gene DOID:10534 stomach cancer ISO RGD:1350575 D RGD:9068941 20210903 RGD associated with Helicobacter Infections; protein:increased expression:stomach (human) PMID:22890997|REF_RGD_ID:150340737 11735671 IL32 interleukin 32 gene DOID:10534 stomach cancer susceptibility ISO RGD:1350575 D RGD:9068941 20210903 RGD associated with Helicobacter Infections;DNA:SNP:enhancer:g.3123561T>A (rs2015620) (human) PMID:26358252|REF_RGD_ID:150340747 11735671 IL32 interleukin 32 gene DOID:11476 osteoporosis ameliorates ISO RGD:1350575 D RGD:9068941 20210903 RGD human gene in a mouse model PMID:28079119|REF_RGD_ID:150340724 11735671 IL32 interleukin 32 gene DOID:12662 paracoccidioidomycosis ISO RGD:1350575 D RGD:9068941 20210903 RGD protein:increased expression:mouth mucosa, mononuclear cell (human) PMID:33771629|REF_RGD_ID:150340738 11735671 IL32 interleukin 32 gene DOID:1513 chronic cervicitis treatment ISO RGD:1350575 D RGD:9068941 20210903 RGD associated with papillomavirus infectious disease PMID:29362599|REF_RGD_ID:150340753 11735671 IL32 interleukin 32 gene DOID:1826 epilepsy ISO RGD:1350575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11735671 IL32 interleukin 32 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1350575 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11735671 IL32 interleukin 32 gene DOID:2043 hepatitis B treatment ISO RGD:1350575 D RGD:9068941 20210903 RGD human gene variant in a mouse model PMID:30115930|REF_RGD_ID:150340732 11735671 IL32 interleukin 32 gene DOID:219 colon cancer disease_progression ISO RGD:1350575 D RGD:9068941 20210903 RGD mRNA:splice variant:colon (human) PMID:26824417|REF_RGD_ID:150340748 11735671 IL32 interleukin 32 gene DOID:2280 hidradenitis suppurativa exacerbates ISO RGD:1350575 D RGD:9068941 20210903 RGD mRNA,protein:increased expression:zone of skin, blood serum (human) PMID:28301691|REF_RGD_ID:150340720 11735671 IL32 interleukin 32 gene DOID:2377 multiple sclerosis ISO RGD:1350575 D RGD:9068941 20210903 RGD protein:increased expression:blood plasma (human) PMID:23180362|REF_RGD_ID:150340728 11735671 IL32 interleukin 32 gene DOID:2755 Mycobacterium avium complex disease ISO RGD:1350575 D RGD:9068941 20210903 RGD protein:increased expression:lung, respiratory epithelial cell (human) PMID:22033195|REF_RGD_ID:150340752 11735671 IL32 interleukin 32 gene DOID:2841 asthma ISO RGD:1350575 D RGD:9068941 20210903 RGD protein:increased expression:blood serum (human) PMID:22336080|REF_RGD_ID:150340749 11735671 IL32 interleukin 32 gene DOID:289 endometriosis exacerbates ISO RGD:1350575 D RGD:9068941 20210903 RGD protein:increased expression:plasma (human) PMID:30099220|REF_RGD_ID:150340750 11735671 IL32 interleukin 32 gene DOID:2957 pulmonary tuberculosis treatment ISO RGD:1350575 D RGD:9068941 20210903 RGD PMID:31378983|REF_RGD_ID:150340743 11735671 IL32 interleukin 32 gene DOID:3042 allergic contact dermatitis ISO RGD:1350575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17597826 11735671 IL32 interleukin 32 gene DOID:3310 atopic dermatitis ISO RGD:1350575 D RGD:9068941 20210903 RGD mRNA:splice variant:zone of skin (human) PMID:28301691|REF_RGD_ID:150340720 11735671 IL32 interleukin 32 gene DOID:4029 gastritis ISO RGD:1350575 D RGD:9068941 20210903 RGD associated with Helicobacter Infections; protein:increased expression:stomach (human) PMID:22890997|REF_RGD_ID:150340737 11735671 IL32 interleukin 32 gene DOID:4033 bacterial gastritis exacerbates ISO RGD:1350575 D RGD:9068941 20210903 RGD associated with Helicobacter Infections;mRNA, protein:increased expression:stomach (human) PMID:24633341|REF_RGD_ID:150340727 11735671 IL32 interleukin 32 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1350575 D RGD:9068941 20210903 RGD protein:increased expression:blood serum (human) PMID:18329725|REF_RGD_ID:150340725 11735671 IL32 interleukin 32 gene DOID:552 pneumonia ISO RGD:1350575 D RGD:9068941 20210903 RGD mRNA:increased expression:peripheral blood mononuclear cell, blood plasma (human) PMID:32860786|REF_RGD_ID:150340740 11735671 IL32 interleukin 32 gene DOID:630 genetic disease ISO RGD:1350575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735671 IL32 interleukin 32 gene DOID:684 hepatocellular carcinoma ISO RGD:1350575 D RGD:9068941 20210903 RGD associated with hepatitis C, liver cirrhosis:mRNA:increased expression:liver (human) PMID:17696935|REF_RGD_ID:150340754 11735671 IL32 interleukin 32 gene DOID:8541 Sezary's disease ISO RGD:1350575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551670 11735671 IL32 interleukin 32 gene DOID:8566 herpes simplex ISO RGD:1350575 D RGD:9068941 20210903 RGD associated with human immunodeficiency virus infectious disease; protein,mRNA:decreased expression:CD4-positive��helper��T��cell��(human) PMID:28007920|REF_RGD_ID:150340722 11735671 IL32 interleukin 32 gene DOID:8869 neuromyelitis optica exacerbates ISO RGD:1350575 D RGD:9068941 20210903 RGD protein:increased expression:blood plasma (human) PMID:23180362|REF_RGD_ID:150340728 11735671 IL32 interleukin 32 gene DOID:8893 psoriasis ISO RGD:1350575 D RGD:9068941 20210903 RGD mRNA:splice variant:zone of skin (human) PMID:28301691|REF_RGD_ID:150340720 11735671 IL32 interleukin 32 gene DOID:9000217 Stomach Neoplasms ISO RGD:1350575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25279216 11735671 IL32 interleukin 32 gene DOID:9000238 Acute-On-Chronic Liver Failure exacerbates ISO RGD:1350575 D RGD:9068941 20210903 RGD associated with hepatitis B;protein:increased expression:liver (human) PMID:26241657|REF_RGD_ID:11079509 11735671 IL32 interleukin 32 gene DOID:9000371 influenza A ISO RGD:1350575 D RGD:9068941 20210903 RGD protein:increased expression:blood serum (human) PMID:18414668|PMID:19291698|PMID:22277801|REF_RGD_ID:150340718|REF_RGD_ID:150340729|REF_RGD_ID:150340751 11735671 IL32 interleukin 32 gene DOID:9001415 Mycobacterium Infections ameliorates ISO RGD:1350575 D RGD:9068941 20210903 RGD human gene in a mouse model PMID:25820174|REF_RGD_ID:150340726 11735671 IL32 interleukin 32 gene DOID:9002265 Kidney Neoplasms ISO RGD:1350575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25279216 11735671 IL32 interleukin 32 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ameliorates ISO RGD:1350575 D RGD:9068941 20210903 RGD human gene in a mouse model PMID:26564962|REF_RGD_ID:150340739 11735671 IL32 interleukin 32 gene DOID:9002780 Recurrent Respiratory Papillomatosis ISO RGD:1350575 D RGD:9068941 20210903 RGD mRNA:decreased expression:blood serum (human) PMID:24015634|REF_RGD_ID:150340746 11735671 IL32 interleukin 32 gene DOID:9002928 Colonic Neoplasms ISO RGD:1350575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25279216 11735671 IL32 interleukin 32 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1350575 D RGD:9068941 20210903 RGD mRNA, protein:increased expression:liver (human) PMID:21381070|REF_RGD_ID:150340721 11735671 IL32 interleukin 32 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1350575 D RGD:9068941 20210903 RGD PMID:25100847|REF_RGD_ID:150340741 11735671 IL32 interleukin 32 gene DOID:9005562 AIDS-Related Kaposi Sarcoma ISO RGD:1350575 D RGD:9068941 20210903 RGD mRNA:increased expression:zone of skin, blood serum (human) PMID:29037857|REF_RGD_ID:150340744 11735671 IL32 interleukin 32 gene DOID:9005930 Endotoxemia ameliorates ISO RGD:1350575 D RGD:9068941 20210903 RGD human gene in a mouse model PMID:24743568|REF_RGD_ID:150340731 11735671 IL32 interleukin 32 gene DOID:9007432 Latent Tuberculosis ISO RGD:1350575 D RGD:9068941 20210903 RGD mRNA:increased expression:blood (human) PMID:25143364|REF_RGD_ID:150340735 11735671 IL32 interleukin 32 gene DOID:9007874 Liver Failure exacerbates ISO RGD:1350575 D RGD:9068941 20210903 RGD hepatitis B;mRNA:increased expression:blood serum (human) PMID:24579465|REF_RGD_ID:150340745 11735671 IL32 interleukin 32 gene DOID:9008163 Chronic Hepatitis B exacerbates ISO RGD:1350575 D RGD:9068941 20210903 RGD mRNA, protein:increased expression:liver (human) PMID:22687868|REF_RGD_ID:150340733 11735671 IL32 interleukin 32 gene DOID:9111 cutaneous leishmaniasis ameliorates ISO RGD:1350575 D RGD:9068941 20210903 RGD PMID:28709468|REF_RGD_ID:150340742 11735671 IL32 interleukin 32 gene DOID:9111 cutaneous leishmaniasis susceptibility ISO RGD:1350575 D RGD:9068941 20210903 RGD DNA:SNPs:enhancers: (rs4786370, rs4349147) (human) PMID:32023240|REF_RGD_ID:150340717 11735671 IL32 interleukin 32 gene DOID:9146 visceral leishmaniasis ameliorates ISO RGD:1350575 D RGD:9068941 20210903 RGD human gene in a mouse model PMID:29483288|REF_RGD_ID:150340719 11735682 CLEC1B C-type lectin domain family 1 member B gene DOID:0080600 COVID-19 ISO RGD:1346944 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11735682 CLEC1B C-type lectin domain family 1 member B gene DOID:630 genetic disease ISO RGD:1346944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735682 CLEC1B C-type lectin domain family 1 member B gene DOID:684 hepatocellular carcinoma ISO RGD:1346944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11735699 ZNF43 zinc finger protein 43 gene DOID:630 genetic disease ISO RGD:1349254 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735707 SNIP1 Smad nuclear interacting protein 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11735707 SNIP1 Smad nuclear interacting protein 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1605941 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:28492532|PMID:29358611 11735707 SNIP1 Smad nuclear interacting protein 1 gene DOID:630 genetic disease ISO RGD:1605941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22279524|PMID:28492532|PMID:34570759 11735707 SNIP1 Smad nuclear interacting protein 1 gene DOID:9001528 ARTERIAL DISSECTION ISO RGD:1605941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Predisposition to dissection PMID:25741868|PMID:28492532 11735707 SNIP1 Smad nuclear interacting protein 1 gene DOID:9006612 Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism ISO RGD:1605941 D RGD:7240710 20180130 OMIM 11735707 SNIP1 Smad nuclear interacting protein 1 gene DOID:9006612 Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism ISO RGD:1605941 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Psychomotor retardation, epilepsy, and craniofacial dysmorphism PMID:22279524|PMID:25741868|PMID:28492532|PMID:29358611|PMID:34570759 11735719 LSP1 lymphocyte specific protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1314573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11735719 LSP1 lymphocyte specific protein 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1314573 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11735719 LSP1 lymphocyte specific protein 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:1314573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11735719 LSP1 lymphocyte specific protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1314573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11735719 LSP1 lymphocyte specific protein 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1314573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11735719 LSP1 lymphocyte specific protein 1 gene DOID:182 calcinosis ISO RGD:1314573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11735719 LSP1 lymphocyte specific protein 1 gene DOID:4079 heart valve disease ISO RGD:1314573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11735719 LSP1 lymphocyte specific protein 1 gene DOID:630 genetic disease ISO RGD:1314573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735719 LSP1 lymphocyte specific protein 1 gene DOID:8577 ulcerative colitis ISO RGD:1314573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297633 11735719 LSP1 lymphocyte specific protein 1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1314573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11735719 LSP1 lymphocyte specific protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1314573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17529967|PMID:20453838 11735759 MMP21 matrix metallopeptidase 21 gene DOID:0050545 visceral heterotaxy ISO RGD:1319622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visceral heterotaxy PMID:24033266|PMID:25741868|PMID:26437028 11735759 MMP21 matrix metallopeptidase 21 gene DOID:37 skin disease ISO RGD:1319622 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16984259 11735759 MMP21 matrix metallopeptidase 21 gene DOID:4415 fibrous histiocytoma ISO RGD:1319622 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16984259 11735759 MMP21 matrix metallopeptidase 21 gene DOID:630 genetic disease ISO RGD:1319622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735759 MMP21 matrix metallopeptidase 21 gene DOID:9008364 Visceral Heterotaxy 7, Autosomal ISO RGD:1319622 D RGD:7240710 20190315 OMIM 11735759 MMP21 matrix metallopeptidase 21 gene DOID:9008364 Visceral Heterotaxy 7, Autosomal ISO RGD:1319622 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 7, autosomal PMID:24033266|PMID:25741868|PMID:26437028|PMID:28492532 11735770 AMBP alpha-1-microglobulin/bikunin precursor gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:2102 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:15533056|REF_RGD_ID:6904219 11735770 AMBP alpha-1-microglobulin/bikunin precursor gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:735479 D RGD:9068941 20200609 RGD PMID:16622176|REF_RGD_ID:6904147 11735770 AMBP alpha-1-microglobulin/bikunin precursor gene DOID:1074 kidney failure ISO RGD:735479 D RGD:9068941 20200609 RGD PMID:18046670|REF_RGD_ID:6904142 11735770 AMBP alpha-1-microglobulin/bikunin precursor gene DOID:11394 adult respiratory distress syndrome ISO RGD:735479 D RGD:9068941 20200609 RGD PMID:15710155|REF_RGD_ID:6904148 11735770 AMBP alpha-1-microglobulin/bikunin precursor gene DOID:11400 pyelonephritis ISO RGD:735479 D RGD:9068941 20200609 RGD PMID:19205372|REF_RGD_ID:6904156 11735770 AMBP alpha-1-microglobulin/bikunin precursor gene DOID:2671 transitional cell carcinoma ISO RGD:735479 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14644129 11735770 AMBP alpha-1-microglobulin/bikunin precursor gene DOID:2841 asthma ISO RGD:735479 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14621078|REF_RGD_ID:6904149 11735770 AMBP alpha-1-microglobulin/bikunin precursor gene DOID:3021 acute kidney failure ISO RGD:735479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:28885000|PMID:8963945 11735770 AMBP alpha-1-microglobulin/bikunin precursor gene DOID:3021 acute kidney failure ISO RGD:735479 D RGD:9068941 20200609 RGD PMID:8963945|REF_RGD_ID:6904218 11735770 AMBP alpha-1-microglobulin/bikunin precursor gene DOID:3324 mood disorder ISO RGD:735479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29987918 11735770 AMBP alpha-1-microglobulin/bikunin precursor gene DOID:630 genetic disease ISO RGD:735479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735770 AMBP alpha-1-microglobulin/bikunin precursor gene DOID:9000998 Brain Injuries ISO RGD:735479 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:14592616|REF_RGD_ID:6904155 11735770 AMBP alpha-1-microglobulin/bikunin precursor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735479 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14644129 11735770 AMBP alpha-1-microglobulin/bikunin precursor gene DOID:9005372 Inflammation ISO RGD:735479 D RGD:9068941 20200609 RGD associated with Hypertension PMID:17765145|REF_RGD_ID:6904143 11735770 AMBP alpha-1-microglobulin/bikunin precursor gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 11735770 AMBP alpha-1-microglobulin/bikunin precursor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18779383 11735784 SLC25A21 solute carrier family 25 member 21 gene DOID:0050591 tooth agenesis ISO RGD:1350119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tooth agenesis PMID:25741868 11735784 SLC25A21 solute carrier family 25 member 21 gene DOID:12859 choreatic disease ISO RGD:1350119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign hereditary chorea PMID:11971878 11735784 SLC25A21 solute carrier family 25 member 21 gene DOID:13714 anodontia ISO RGD:1350119 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Partial congenital absence of teeth PMID:11827258|PMID:28492532 11735784 SLC25A21 solute carrier family 25 member 21 gene DOID:630 genetic disease ISO RGD:1350119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11735784 SLC25A21 solute carrier family 25 member 21 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1350119 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11735784 SLC25A21 solute carrier family 25 member 21 gene DOID:9006116 Mitochondrial DNA Depletion Syndrome 18 ISO RGD:1350119 D RGD:7240710 20200408 OMIM 11735784 SLC25A21 solute carrier family 25 member 21 gene DOID:9006116 Mitochondrial DNA Depletion Syndrome 18 ISO RGD:1350119 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 18 PMID:25741868|PMID:28492532|PMID:29517768 11735804 ALKAL1 ALK and LTK ligand 1 gene DOID:12849 autistic disorder ISO RGD:1604440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11735804 ALKAL1 ALK and LTK ligand 1 gene DOID:5419 schizophrenia ISO RGD:1604440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11735804 ALKAL1 ALK and LTK ligand 1 gene DOID:630 genetic disease ISO RGD:1604440 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735818 MBL2 mannose binding lectin 2 gene DOID:0050073 invasive aspergillosis ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs5030737(human) PMID:17311505|REF_RGD_ID:8693758 11735818 MBL2 mannose binding lectin 2 gene DOID:0050117 disease by infectious agent ISO RGD:735547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7707811 11735818 MBL2 mannose binding lectin 2 gene DOID:0050117 disease by infectious agent ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:haplotype,SNP:promoter: PMID:22444663|REF_RGD_ID:8693694 11735818 MBL2 mannose binding lectin 2 gene DOID:0050117 disease by infectious agent no_association ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Precursor T-Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphisms:promoter,exon: PMID:16494622|REF_RGD_ID:11530059 11735818 MBL2 mannose binding lectin 2 gene DOID:0050144 Kartagener syndrome severity ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:haplotype:promoter: PMID:24753481|REF_RGD_ID:11250592 11735818 MBL2 mannose binding lectin 2 gene DOID:0050697 chorioamnionitis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.G54D(human) PMID:15723707|REF_RGD_ID:12910932 11735818 MBL2 mannose binding lectin 2 gene DOID:0060496 respiratory allergy susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:intron:1011G>A(human) PMID:16487239|REF_RGD_ID:8693711 11735818 MBL2 mannose binding lectin 2 gene DOID:0080159 cryptococcal meningitis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with HIV Infections;DNA:polymorphism:cds: PMID:21592999|REF_RGD_ID:12910861 11735818 MBL2 mannose binding lectin 2 gene DOID:0080162 lupus nephritis disease_progression ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:24850777|REF_RGD_ID:12910847 11735818 MBL2 mannose binding lectin 2 gene DOID:0080599 Coronavirus infectious disease ISO RGD:735547 D RGD:9068941 20200609 RGD Severe Acute Respiratory Syndrome; DNA:mutations:5' utr, exon:g.-221G>C, p.G54N (human) PMID:15838797|REF_RGD_ID:4889467 11735818 MBL2 mannose binding lectin 2 gene DOID:10003 sensorineural hearing loss susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:cds: PMID:23246423|REF_RGD_ID:8693695 11735818 MBL2 mannose binding lectin 2 gene DOID:10223 dermatomyositis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.G54D,G57E(human) PMID:12485445|REF_RGD_ID:8693750 11735818 MBL2 mannose binding lectin 2 gene DOID:104 bacterial infectious disease susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Precursor B-Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphism:exon: PMID:24453114|REF_RGD_ID:11530056 11735818 MBL2 mannose binding lectin 2 gene DOID:10457 Legionnaires' disease susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:19073229|REF_RGD_ID:12910934 11735818 MBL2 mannose binding lectin 2 gene DOID:10652 Alzheimer's disease ISO RGD:735547 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid (human) PMID:9631454|REF_RGD_ID:4889155 11735818 MBL2 mannose binding lectin 2 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:haplotype:promoter: PMID:23348713|REF_RGD_ID:12910848 11735818 MBL2 mannose binding lectin 2 gene DOID:1070 primary open angle glaucoma ISO RGD:735547 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:22335808|REF_RGD_ID:8693705 11735818 MBL2 mannose binding lectin 2 gene DOID:10754 otitis media ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:haplotype,SNP:promoter,exons: PMID:16750996|REF_RGD_ID:8693692 11735818 MBL2 mannose binding lectin 2 gene DOID:10887 lepromatous leprosy susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:cds:161G>A (human) PMID:20650301|REF_RGD_ID:8694069 11735818 MBL2 mannose binding lectin 2 gene DOID:11162 respiratory failure ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:mutations:5' utr, exon:multiple (human) PMID:18582923|REF_RGD_ID:4889496 11735818 MBL2 mannose binding lectin 2 gene DOID:11394 adult respiratory distress syndrome susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.G54N (human) PMID:17133182|REF_RGD_ID:4889476 11735818 MBL2 mannose binding lectin 2 gene DOID:11650 bronchopulmonary dysplasia susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Premature Birth;DNA:polymorphism:exon: PMID:22882323|REF_RGD_ID:12910846 11735818 MBL2 mannose binding lectin 2 gene DOID:11714 gestational diabetes ISO RGD:735547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15472209 11735818 MBL2 mannose binding lectin 2 gene DOID:12177 common variable immunodeficiency ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:p.R52C, p.G54N, p.G57E (human) PMID:10652157|REF_RGD_ID:4889436 11735818 MBL2 mannose binding lectin 2 gene DOID:12306 vitiligo no_association ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, exon: PMID:19416237|REF_RGD_ID:8693724 11735818 MBL2 mannose binding lectin 2 gene DOID:12306 vitiligo susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:17337399|REF_RGD_ID:8693723 11735818 MBL2 mannose binding lectin 2 gene DOID:12375 bronchopneumonia ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Down Syndrome; protein:decreased secretion:serum (human) PMID:19804807|REF_RGD_ID:4889483 11735818 MBL2 mannose binding lectin 2 gene DOID:12554 hemolytic-uremic syndrome treatment ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:27378476|REF_RGD_ID:11530050 11735818 MBL2 mannose binding lectin 2 gene DOID:12716 newborn respiratory distress syndrome disease_progression ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:25879044|REF_RGD_ID:12910849 11735818 MBL2 mannose binding lectin 2 gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:735547 D RGD:9068941 20200609 RGD Chronic Necrotizing Pulmonary Aspergillosis; DNA:missense mutation:exon:p.R52C (human) PMID:11474427|REF_RGD_ID:4889577 11735818 MBL2 mannose binding lectin 2 gene DOID:13166 allergic bronchopulmonary aspergillosis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:intron:1011G>A(human) PMID:16487239|REF_RGD_ID:8693711 11735818 MBL2 mannose binding lectin 2 gene DOID:1324 lung cancer susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:multiple (human) PMID:19959685|REF_RGD_ID:4889433 11735818 MBL2 mannose binding lectin 2 gene DOID:13241 Behcet's disease severity ISO RGD:735547 D RGD:9068941 20200609 RGD protein:decreased secretion:serum (human) PMID:15693089|REF_RGD_ID:1582155 11735818 MBL2 mannose binding lectin 2 gene DOID:13241 Behcet's disease susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:5' utr, exon:multiple (human) PMID:15730518|REF_RGD_ID:1582154 11735818 MBL2 mannose binding lectin 2 gene DOID:13375 temporal arteritis ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:cds: PMID:12375325|REF_RGD_ID:8693752 11735818 MBL2 mannose binding lectin 2 gene DOID:13378 Kawasaki disease ISO RGD:731472 D RGD:9068941 20200609 RGD PMID:24721319|REF_RGD_ID:8693744 11735818 MBL2 mannose binding lectin 2 gene DOID:13378 Kawasaki disease susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:cds: PMID:15144709|REF_RGD_ID:8693748 11735818 MBL2 mannose binding lectin 2 gene DOID:13450 coccidioidomycosis ISO RGD:735547 D RGD:9068941 20200609 RGD protein:decreased secretion:serum (human) PMID:19083122|REF_RGD_ID:4889458 11735818 MBL2 mannose binding lectin 2 gene DOID:13564 aspergillosis susceptibility ISO RGD:731472 D RGD:9068941 20200609 RGD PMID:20064561|REF_RGD_ID:8694071 11735818 MBL2 mannose binding lectin 2 gene DOID:14067 Plasmodium falciparum malaria susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:haplotype:exon: PMID:18396436|REF_RGD_ID:11530064 11735818 MBL2 mannose binding lectin 2 gene DOID:14115 toxic shock syndrome susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with acute pyelonephritis;DNA:SNPs, missense mutations, haplotypes:promoter, cds:multiple PMID:17202308|REF_RGD_ID:6903268 11735818 MBL2 mannose binding lectin 2 gene DOID:1485 cystic fibrosis ISO RGD:735547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:10071515|PMID:10449435|PMID:15674393|PMID:16912583|PMID:18292811|PMID:20068595|PMID:22323042|PMID:22377282|PMID:22940091|PMID:24753481|PMID:25178872|PMID:28492532|PMID:7707811|PMID:8206524 11735818 MBL2 mannose binding lectin 2 gene DOID:1485 cystic fibrosis severity ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:5' utr, exon:multiple (human) PMID:10449435|REF_RGD_ID:4889447 11735818 MBL2 mannose binding lectin 2 gene DOID:1485 cystic fibrosis severity ISO RGD:735547 D RGD:9068941 20200609 RGD protein:decreased secretion:serum (human) PMID:16879250|REF_RGD_ID:4889443 11735818 MBL2 mannose binding lectin 2 gene DOID:1564 fungal infectious disease treatment ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Hematologic Diseases;DNA:polymorphisms:promoter,exon: PMID:24886325|REF_RGD_ID:11530048 11735818 MBL2 mannose binding lectin 2 gene DOID:1588 thrombocytopenia susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Dengue;DNA:SNP:exon: PMID:18361938|REF_RGD_ID:11530042 11735818 MBL2 mannose binding lectin 2 gene DOID:1733 cryptosporidiosis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:promoter,exon: PMID:19827946|REF_RGD_ID:12910843 11735818 MBL2 mannose binding lectin 2 gene DOID:1883 hepatitis C susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:exon: PMID:19703233|REF_RGD_ID:14696815 11735818 MBL2 mannose binding lectin 2 gene DOID:1883 hepatitis C susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter, exon: PMID:20570631|REF_RGD_ID:14696832 11735818 MBL2 mannose binding lectin 2 gene DOID:2043 hepatitis B disease_progression ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:haplotype:promoter,exon: PMID:16231358|REF_RGD_ID:14696834 11735818 MBL2 mannose binding lectin 2 gene DOID:2272 vulvovaginal candidiasis ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:cds: PMID:17470593|REF_RGD_ID:8693700 11735818 MBL2 mannose binding lectin 2 gene DOID:2297 leptospirosis severity ISO RGD:735547 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19330263|REF_RGD_ID:6903260 11735818 MBL2 mannose binding lectin 2 gene DOID:2394 ovarian cancer ISO RGD:735547 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary: PMID:25038892|REF_RGD_ID:12910855 11735818 MBL2 mannose binding lectin 2 gene DOID:2394 ovarian cancer susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms,haplotype:exon,promoter: PMID:25038892|REF_RGD_ID:12910855 11735818 MBL2 mannose binding lectin 2 gene DOID:2799 bronchiolitis obliterans resistance ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:transversion:5' utr:-290C>G rs7096206 (human) PMID:19104434|REF_RGD_ID:4889456 11735818 MBL2 mannose binding lectin 2 gene DOID:2841 asthma ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Bronchiolitis;DNA:polymorphism:exon: PMID:22512728|REF_RGD_ID:8693709 11735818 MBL2 mannose binding lectin 2 gene DOID:2841 asthma susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.G54D(human) PMID:22674410|REF_RGD_ID:12910828 11735818 MBL2 mannose binding lectin 2 gene DOID:2957 pulmonary tuberculosis ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:5' utr, exon:multiple (human) PMID:19199550|REF_RGD_ID:4889452 11735818 MBL2 mannose binding lectin 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:5' utr, exon:multiple (human) PMID:20688922|REF_RGD_ID:4889421 11735818 MBL2 mannose binding lectin 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735547 D RGD:9068941 20200609 RGD protein:decreased secretion:lung (human) PMID:19411612|REF_RGD_ID:4889448 11735818 MBL2 mannose binding lectin 2 gene DOID:3310 atopic dermatitis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, exon: PMID:20642202|REF_RGD_ID:8693720 11735818 MBL2 mannose binding lectin 2 gene DOID:3312 bipolar disorder susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:haplotype: : PMID:24856568|REF_RGD_ID:12910826 11735818 MBL2 mannose binding lectin 2 gene DOID:3385 bacterial vaginosis ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:cds: PMID:17470593|REF_RGD_ID:8693700 11735818 MBL2 mannose binding lectin 2 gene DOID:341 peripheral vascular disease susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Mucocutaneous Lymph Node Syndrome; DNA:mutations:5' utr, exon:g.-221G>C, p.G54N (human) PMID:15295097|REF_RGD_ID:1582151 11735818 MBL2 mannose binding lectin 2 gene DOID:3770 pulmonary fibrosis ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Common Variable Immunodeficiency; DNA:polymorphisms:5' utr, exon:multiple (human) PMID:18637104|REF_RGD_ID:4889479 11735818 MBL2 mannose binding lectin 2 gene DOID:409 liver disease ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis; DNA:polymorphisms:5' utr, exon:multiple (human) PMID:19467940|REF_RGD_ID:4889446 11735818 MBL2 mannose binding lectin 2 gene DOID:4247 coronary restenosis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:5' utr, exon:multiple (human) PMID:15790942|REF_RGD_ID:1582150 11735818 MBL2 mannose binding lectin 2 gene DOID:4483 rhinitis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:18831943|REF_RGD_ID:8693717 11735818 MBL2 mannose binding lectin 2 gene DOID:5082 liver cirrhosis severity ISO RGD:735547 D RGD:9068941 20200609 RGD associated with hepatitis C; DNA:haplotype:promoter, exon: PMID:20570631|REF_RGD_ID:14696832 11735818 MBL2 mannose binding lectin 2 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:SNP:exon: PMID:26857650|REF_RGD_ID:14696836 11735818 MBL2 mannose binding lectin 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16960176 11735818 MBL2 mannose binding lectin 2 gene DOID:526 human immunodeficiency virus infectious disease no_association ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:26348711|REF_RGD_ID:12910931 11735818 MBL2 mannose binding lectin 2 gene DOID:526 human immunodeficiency virus infectious disease severity ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:19796822|REF_RGD_ID:12910857 11735818 MBL2 mannose binding lectin 2 gene DOID:552 pneumonia ISO RGD:735547 D RGD:9068941 20200609 RGD protein:increased expression:Bronchoalveolar lavage: PMID:15249448|REF_RGD_ID:8693755 11735818 MBL2 mannose binding lectin 2 gene DOID:552 pneumonia ISO RGD:735547 D RGD:9068941 20200609 RGD protein:increased secretion:lung (human) PMID:18988662|REF_RGD_ID:4889459 11735818 MBL2 mannose binding lectin 2 gene DOID:57 aortic valve insufficiency susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Rheumatic Fever;DNA:polymorphism:exon: PMID:18400978|REF_RGD_ID:12910860 11735818 MBL2 mannose binding lectin 2 gene DOID:574 peripheral nervous system disease ISO RGD:735547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 11735818 MBL2 mannose binding lectin 2 gene DOID:594 panic disorder susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:24856568|REF_RGD_ID:12910826 11735818 MBL2 mannose binding lectin 2 gene DOID:630 genetic disease ISO RGD:735547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735818 MBL2 mannose binding lectin 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:18334024|REF_RGD_ID:12910845 11735818 MBL2 mannose binding lectin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:735547 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:27557564|REF_RGD_ID:14696835 11735818 MBL2 mannose binding lectin 2 gene DOID:684 hepatocellular carcinoma no_association ISO RGD:735547 D RGD:9068941 20200609 RGD associated with viral hepatitis;DNA:polymorphisms:exon: PMID:18221301|REF_RGD_ID:14696829 11735818 MBL2 mannose binding lectin 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:735547 D RGD:9068941 20200609 RGD associated with hepatitis C;DNA:SNP: :221C>G(rs709620)(human) PMID:21733090|REF_RGD_ID:14696813 11735818 MBL2 mannose binding lectin 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:rs7096206(human) PMID:25787238|REF_RGD_ID:14696833 11735818 MBL2 mannose binding lectin 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with hepatitis B-related cirrhosis;DNA:SNP: :rs11003123(G>A)(human) PMID:27298104|REF_RGD_ID:14696814 11735818 MBL2 mannose binding lectin 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:SNP:exon: PMID:26857650|REF_RGD_ID:14696836 11735818 MBL2 mannose binding lectin 2 gene DOID:7188 autoimmune thyroiditis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:22360648|REF_RGD_ID:8693703 11735818 MBL2 mannose binding lectin 2 gene DOID:7188 autoimmune thyroiditis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with hepatitis C;DNA:SNP:exon: PMID:19703233|REF_RGD_ID:14696815 11735818 MBL2 mannose binding lectin 2 gene DOID:783 end stage renal disease ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;DNA:polymorphisms PMID:16801331|REF_RGD_ID:6903261 11735818 MBL2 mannose binding lectin 2 gene DOID:853 polymyalgia rheumatica ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:cds: PMID:12375325|REF_RGD_ID:8693752 11735818 MBL2 mannose binding lectin 2 gene DOID:8566 herpes simplex ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:15498041|REF_RGD_ID:8693727 11735818 MBL2 mannose binding lectin 2 gene DOID:8566 herpes simplex disease_progression ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:15498041|REF_RGD_ID:8693727 11735818 MBL2 mannose binding lectin 2 gene DOID:8566 herpes simplex susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:cds: PMID:19480845|REF_RGD_ID:8693725 11735818 MBL2 mannose binding lectin 2 gene DOID:874 bacterial pneumonia ISO RGD:735547 D RGD:9068941 20200609 RGD Legionella Pneumonia; DNA:mutations:5' utr, exon:multiple (human) PMID:18641104|REF_RGD_ID:4889477 11735818 MBL2 mannose binding lectin 2 gene DOID:8778 Crohn's disease susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds: PMID:21702710|REF_RGD_ID:12910842 11735818 MBL2 mannose binding lectin 2 gene DOID:8893 psoriasis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:cds: PMID:23113841|REF_RGD_ID:8693722 11735818 MBL2 mannose binding lectin 2 gene DOID:9000431 Mannose-Binding Protein Deficiency ISO RGD:735547 D RGD:7240710 20180130 OMIM 11735818 MBL2 mannose binding lectin 2 gene DOID:9000431 Mannose-Binding Protein Deficiency ISO RGD:735547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mannose-binding lectin deficiency PMID:10071515|PMID:10449435|PMID:10888598|PMID:1303250|PMID:1304173|PMID:14568388|PMID:1458688|PMID:15472209|PMID:15674393|PMID:15829288|PMID:16395391|PMID:1675710|PMID:16885193|PMID:16912583|PMID:18292811|PMID:20068595|PMID:22323042|PMID:22363494|PMID:22377282|PMID:22940091|PMID:24033266|PMID:24753481|PMID:25178872|PMID:25741868|PMID:28492532|PMID:29210071|PMID:33116287|PMID:7707811|PMID:8206524 11735818 MBL2 mannose binding lectin 2 gene DOID:9000998 Brain Injuries disease_progression ISO RGD:731472 D RGD:9068941 20200609 RGD PMID:18183030|REF_RGD_ID:12910935 11735818 MBL2 mannose binding lectin 2 gene DOID:9001472 Nasal Polyps ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Sinusitis; protein:increased secretion:serum (human) PMID:19593977|REF_RGD_ID:4889484 11735818 MBL2 mannose binding lectin 2 gene DOID:9001665 Aneurysm ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Mucocutaneous Lymph Node Syndrome; DNA:polymorphisms:5' utr, exon:multiple (human) PMID:16385529|REF_RGD_ID:1582153 11735818 MBL2 mannose binding lectin 2 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:5' utr, exon:multiple (human) PMID:12047967|REF_RGD_ID:4889478 11735818 MBL2 mannose binding lectin 2 gene DOID:9002106 Pneumococcal Pneumonia no_association ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:mutations:5' utr, exon:multiple (human) PMID:18641104|REF_RGD_ID:4889477 11735818 MBL2 mannose binding lectin 2 gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia disease progression ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Precursor B-Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphisms:exon: PMID:24453114|REF_RGD_ID:11530056 11735818 MBL2 mannose binding lectin 2 gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Neoplasms;DNA:SNP,haplotyep:promoter: PMID:20930093|REF_RGD_ID:11530043 11735818 MBL2 mannose binding lectin 2 gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with leukemia; PMID:24819208|REF_RGD_ID:11530041 11735818 MBL2 mannose binding lectin 2 gene DOID:9003197 Vaso-occlusive Crisis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:promoter,exon: PMID:20172753|REF_RGD_ID:11530044 11735818 MBL2 mannose binding lectin 2 gene DOID:9003219 Invasive Pulmonary Aspergillosis treatment ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:17335555|REF_RGD_ID:8693746 11735818 MBL2 mannose binding lectin 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:multiple: PMID:18927129|REF_RGD_ID:12910825 11735818 MBL2 mannose binding lectin 2 gene DOID:9003507 Premature Birth ISO RGD:735547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16912583 11735818 MBL2 mannose binding lectin 2 gene DOID:9003536 Familial Thoracic Aortic Aneurysm 8 ISO RGD:735547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 PMID:28492532 11735818 MBL2 mannose binding lectin 2 gene DOID:9003646 Arterial Thrombosis treatment ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:25482922|REF_RGD_ID:11530049 11735818 MBL2 mannose binding lectin 2 gene DOID:9003996 Birth Weight ISO RGD:735547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20923744 11735818 MBL2 mannose binding lectin 2 gene DOID:9004009 Reperfusion Injury ISO RGD:731472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15509537|REF_RGD_ID:6903263 11735818 MBL2 mannose binding lectin 2 gene DOID:9004009 Reperfusion Injury ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:15882434|REF_RGD_ID:6903262 11735818 MBL2 mannose binding lectin 2 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNPs:promoter,exon: PMID:18336595|REF_RGD_ID:14696820 11735818 MBL2 mannose binding lectin 2 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:haplotype:promoter, exon: PMID:25956563|REF_RGD_ID:11076743 11735818 MBL2 mannose binding lectin 2 gene DOID:9004272 Varicose Ulcer ISO RGD:735547 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:19997692|REF_RGD_ID:8694068 11735818 MBL2 mannose binding lectin 2 gene DOID:9004422 Chagas Cardiomyopathy severity ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:26745156|REF_RGD_ID:11076757 11735818 MBL2 mannose binding lectin 2 gene DOID:9004484 Sepsis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Premature Birth;DNA:polymorphism:exon: PMID:22882323|REF_RGD_ID:12910846 11735818 MBL2 mannose binding lectin 2 gene DOID:9004562 Smoke Inhalation Injury ISO RGD:735547 D RGD:9068941 20200609 RGD mouse model PMID:19411612|REF_RGD_ID:4889448 11735818 MBL2 mannose binding lectin 2 gene DOID:9004968 Yin Deficiency treatment ISO RGD:67380 D RGD:9068941 20220915 RGD PMID:29729385|REF_RGD_ID:153350148 11735818 MBL2 mannose binding lectin 2 gene DOID:9005036 Bacteremia treatment ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Multiple Myeloma:DNA:polymorphism:exon: PMID:16953214|REF_RGD_ID:11530047 11735818 MBL2 mannose binding lectin 2 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:20712489|REF_RGD_ID:4889482 11735818 MBL2 mannose binding lectin 2 gene DOID:9006262 Cytomegalovirus Infections severity ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:exon PMID:19715891|REF_RGD_ID:6903267 11735818 MBL2 mannose binding lectin 2 gene DOID:9006771 Chronic Rhinosinusitis ISO RGD:735547 D RGD:9068941 20200609 RGD protein:decreased activity:serum: PMID:23144819|REF_RGD_ID:8693716 11735818 MBL2 mannose binding lectin 2 gene DOID:9007355 Hashimoto Disease susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:22360648|REF_RGD_ID:8693703 11735818 MBL2 mannose binding lectin 2 gene DOID:9007417 Pseudomonas Infections onset ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis; DNA:polymorphisms:5' utr, exon:multiple (human) PMID:20068595|REF_RGD_ID:4889579 11735818 MBL2 mannose binding lectin 2 gene DOID:9007425 Diffuse Panbronchiolitis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.G54D(rs1800450)(human) PMID:15249448|REF_RGD_ID:8693755 11735818 MBL2 mannose binding lectin 2 gene DOID:9007755 Intestinal Reperfusion Injury severity ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:exon: PMID:19477015|REF_RGD_ID:12910933 11735818 MBL2 mannose binding lectin 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:25482922|REF_RGD_ID:11530049 11735818 MBL2 mannose binding lectin 2 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:haplotype: : PMID:27824315|REF_RGD_ID:14696831 11735818 MBL2 mannose binding lectin 2 gene DOID:9008212 Diabetic Foot ISO RGD:735547 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19997692|REF_RGD_ID:8694068 11735818 MBL2 mannose binding lectin 2 gene DOID:9008680 Respiratory Tract Infections ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:5' utr, exon:multiple (human) PMID:19767106|REF_RGD_ID:4889439 11735818 MBL2 mannose binding lectin 2 gene DOID:9008680 Respiratory Tract Infections susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.G54D(rs1800450)(human) PMID:15249448|REF_RGD_ID:8693755 11735818 MBL2 mannose binding lectin 2 gene DOID:9008680 Respiratory Tract Infections susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD protein:decreased secretion:serum (human) PMID:19169708|REF_RGD_ID:4889453 11735818 MBL2 mannose binding lectin 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:exon PMID:21510992|REF_RGD_ID:6903266 11735818 MBL2 mannose binding lectin 2 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP,haplotype:cds:p.G54D,G57E(human) PMID:11561111|REF_RGD_ID:5147979 11735818 MBL2 mannose binding lectin 2 gene DOID:9146 visceral leishmaniasis ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:17357060|REF_RGD_ID:8693721 11735818 MBL2 mannose binding lectin 2 gene DOID:9146 visceral leishmaniasis ISO RGD:735547 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:26297290|REF_RGD_ID:11522692 11735818 MBL2 mannose binding lectin 2 gene DOID:9146 visceral leishmaniasis disease_progression ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:17357060|REF_RGD_ID:8693721 11735818 MBL2 mannose binding lectin 2 gene DOID:9146 visceral leishmaniasis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype:promoter,exon: PMID:26297290|REF_RGD_ID:11522692 11735818 MBL2 mannose binding lectin 2 gene DOID:9146 visceral leishmaniasis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: PMID:22995279|REF_RGD_ID:8693726 11735818 MBL2 mannose binding lectin 2 gene DOID:9182 pemphigus ISO RGD:735547 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:21327568|REF_RGD_ID:8693728 11735818 MBL2 mannose binding lectin 2 gene DOID:9563 bronchiectasis ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Common Variable Immunodeficiency; protein:decreased secretion:serum (human) PMID:20568383|REF_RGD_ID:4889425 11735818 MBL2 mannose binding lectin 2 gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:18361935|REF_RGD_ID:12910829 11735818 MBL2 mannose binding lectin 2 gene DOID:9970 obesity ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.R52C, p.G57E (human) PMID:16955210|REF_RGD_ID:4889156 11735831 CREB3L4 cAMP responsive element binding protein 3 like 4 gene DOID:0070048 GAND syndrome ISO RGD:1347233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GAND SYNDROME PMID:21681106 11735831 CREB3L4 cAMP responsive element binding protein 3 like 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1347233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11735831 CREB3L4 cAMP responsive element binding protein 3 like 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1347233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11735831 CREB3L4 cAMP responsive element binding protein 3 like 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1347233 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11735831 CREB3L4 cAMP responsive element binding protein 3 like 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1347233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11735831 CREB3L4 cAMP responsive element binding protein 3 like 4 gene DOID:2526 prostate adenocarcinoma ISO RGD:1347233 D RGD:9068941 20200609 RGD PMID:11830526|PMID:17270658|REF_RGD_ID:13504714|REF_RGD_ID:13504715 11735831 CREB3L4 cAMP responsive element binding protein 3 like 4 gene DOID:5812 MHC class II deficiency ISO RGD:1347233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11735831 CREB3L4 cAMP responsive element binding protein 3 like 4 gene DOID:630 genetic disease ISO RGD:1347233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735831 CREB3L4 cAMP responsive element binding protein 3 like 4 gene DOID:8634 prostate carcinoma in situ severity ISO RGD:1347233 D RGD:9068941 20200609 RGD PMID:17270658|REF_RGD_ID:13504714 11735831 CREB3L4 cAMP responsive element binding protein 3 like 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347233 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 11735831 CREB3L4 cAMP responsive element binding protein 3 like 4 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1347233 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 11735831 CREB3L4 cAMP responsive element binding protein 3 like 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11735866 ADNP activity dependent neuroprotector homeobox gene DOID:0060041 autism spectrum disorder ISO RGD:737453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11735866 ADNP activity dependent neuroprotector homeobox gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:737453 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome PMID:25741868 11735866 ADNP activity dependent neuroprotector homeobox gene DOID:0060870 isolated growth hormone deficiency ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth hormone deficiency PMID:24531329|PMID:25741868|PMID:27031564|PMID:28135719|PMID:28221363|PMID:28492532|PMID:29475819|PMID:29724491|PMID:29911927|PMID:33004838 11735866 ADNP activity dependent neuroprotector homeobox gene DOID:0070058 Helsmoortel-Van Der Aa syndrome ISO RGD:737453 D RGD:7240710 20180130 OMIM 11735866 ADNP activity dependent neuroprotector homeobox gene DOID:0070058 Helsmoortel-Van Der Aa syndrome ISO RGD:737453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Helsmoortel-Van der Aa Syndrome PMID:18414213|PMID:23160955|PMID:24531329|PMID:25057125|PMID:25169753|PMID:25217958|PMID:25363760|PMID:25533962|PMID:25741868|PMID:27031564|PMID:28135719|PMID:28191890|PMID:28221363|PMID:28492532|PMID:28579975|PMID:28675391|PMID:28708303|PMID:29475819|PMID:29724491|PMID:29911927|PMID:30106381|PMID:30687093|PMID:31029150|PMID:33004838|PMID:33624935|PMID:35887114 11735866 ADNP activity dependent neuroprotector homeobox gene DOID:0080074 neural tube defect ISO RGD:737454 D RGD:9068941 20200609 RGD PMID:15886480|REF_RGD_ID:2312793 11735866 ADNP activity dependent neuroprotector homeobox gene DOID:0080557 congenital disorder of glycosylation Ie ISO RGD:737453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1E PMID:10642597|PMID:10642602|PMID:28492532 11735866 ADNP activity dependent neuroprotector homeobox gene DOID:1059 intellectual disability ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:23160955|PMID:24531329|PMID:25057125|PMID:25533962|PMID:25741868|PMID:28221363|PMID:28492532|PMID:28579975|PMID:28708303|PMID:29724491|PMID:29911927 11735866 ADNP activity dependent neuroprotector homeobox gene DOID:10652 Alzheimer's disease ISO RGD:737454 D RGD:9068941 20200609 RGD PMID:17720885|PMID:18199809|REF_RGD_ID:2312791|REF_RGD_ID:2312792 11735866 ADNP activity dependent neuroprotector homeobox gene DOID:10907 microcephaly ISO RGD:737453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11735866 ADNP activity dependent neuroprotector homeobox gene DOID:12849 autistic disorder ISO RGD:737453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism, severe PMID:25741868 11735866 ADNP activity dependent neuroprotector homeobox gene DOID:1289 neurodegenerative disease ISO RGD:737454 D RGD:9068941 20200609 RGD PMID:10037502|REF_RGD_ID:2312794 11735866 ADNP activity dependent neuroprotector homeobox gene DOID:1459 hypothyroidism ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:24531329|PMID:25741868|PMID:27031564|PMID:28135719|PMID:28221363|PMID:28492532|PMID:29475819|PMID:29724491|PMID:29911927|PMID:33004838 11735866 ADNP activity dependent neuroprotector homeobox gene DOID:1826 epilepsy ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:24531329|PMID:25741868|PMID:27031564|PMID:28135719|PMID:28221363|PMID:28492532|PMID:29475819|PMID:29724491|PMID:29911927|PMID:33004838 11735866 ADNP activity dependent neuroprotector homeobox gene DOID:2303 stereotypic movement disorder ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stereotypic movement disorder PMID:24531329|PMID:25741868|PMID:27031564|PMID:28135719|PMID:28221363|PMID:28492532|PMID:29475819|PMID:29724491|PMID:29911927|PMID:33004838 11735866 ADNP activity dependent neuroprotector homeobox gene DOID:326 ischemia ISO RGD:71030 D RGD:9068941 20200609 RGD PMID:18414890|REF_RGD_ID:2312783 11735866 ADNP activity dependent neuroprotector homeobox gene DOID:3454 brain infarction ISO RGD:71030 D RGD:9068941 20200609 RGD PMID:11935065|REF_RGD_ID:1358226 11735866 ADNP activity dependent neuroprotector homeobox gene DOID:630 genetic disease ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:23160955|PMID:24531329|PMID:25057125|PMID:25533962|PMID:25741868|PMID:26637798|PMID:27031564|PMID:28135719|PMID:28191890|PMID:28221363|PMID:28492532|PMID:28579975|PMID:28675391|PMID:28708303|PMID:29475819|PMID:29724491|PMID:29911927|PMID:31029150|PMID:33004838 11735866 ADNP activity dependent neuroprotector homeobox gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:24531329|PMID:25741868|PMID:27031564|PMID:28135719|PMID:28221363|PMID:28492532|PMID:29475819|PMID:29724491|PMID:29911927|PMID:33004838 11735866 ADNP activity dependent neuroprotector homeobox gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:71030 D RGD:9068941 20200609 RGD PMID:16938277|REF_RGD_ID:2312775 11735866 ADNP activity dependent neuroprotector homeobox gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:18414213|PMID:23160955|PMID:24531329|PMID:25057125|PMID:25533962|PMID:25741868|PMID:28221363|PMID:28492532|PMID:28579975|PMID:28708303|PMID:29724491|PMID:29911927 11735866 ADNP activity dependent neuroprotector homeobox gene DOID:9007621 Craniocerebral Trauma ISO RGD:737454 D RGD:9068941 20200609 RGD PMID:11123362|REF_RGD_ID:2312784 11735866 ADNP activity dependent neuroprotector homeobox gene DOID:9008086 Developmental Disabilities ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24531329|PMID:25741868|PMID:27031564|PMID:28135719|PMID:28221363|PMID:28492532|PMID:29475819|PMID:29724491|PMID:29911927|PMID:33004838 11735866 ADNP activity dependent neuroprotector homeobox gene DOID:9008091 Optic Nerve Injuries ISO RGD:71030 D RGD:9068941 20200609 RGD PMID:18414890|REF_RGD_ID:2312783 11735883 BMP6 bone morphogenetic protein 6 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1353193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18688853 11735883 BMP6 bone morphogenetic protein 6 gene DOID:0050855 renal fibrosis severity ISO RGD:732562 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:21356359|REF_RGD_ID:7242415 11735883 BMP6 bone morphogenetic protein 6 gene DOID:0060180 colitis ISO RGD:2214 D RGD:9068941 20200609 RGD PMID:22361727|REF_RGD_ID:7242194 11735883 BMP6 bone morphogenetic protein 6 gene DOID:0090128 Carvajal syndrome ISO RGD:1353193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:28492532 11735883 BMP6 bone morphogenetic protein 6 gene DOID:0110076 arrhythmogenic right ventricular dysplasia 8 ISO RGD:1353193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:28492532 11735883 BMP6 bone morphogenetic protein 6 gene DOID:10283 prostate cancer ISO RGD:1353193 D RGD:9068941 20200609 RGD protein:increased expression:prostate PMID:18072288|REF_RGD_ID:2289017 11735883 BMP6 bone morphogenetic protein 6 gene DOID:1612 breast cancer ISO RGD:1353193 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast PMID:17004110|REF_RGD_ID:1643590 11735883 BMP6 bone morphogenetic protein 6 gene DOID:2316 brain ischemia ISO RGD:2214 D RGD:9068941 20200609 RGD PMID:11245809|REF_RGD_ID:2289024 11735883 BMP6 bone morphogenetic protein 6 gene DOID:2352 hemochromatosis ISO RGD:1353193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19252486|PMID:19252488 11735883 BMP6 bone morphogenetic protein 6 gene DOID:2355 anemia ISO RGD:2214 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver PMID:21859731|REF_RGD_ID:7242407 11735883 BMP6 bone morphogenetic protein 6 gene DOID:3042 allergic contact dermatitis ISO RGD:1353193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 11735883 BMP6 bone morphogenetic protein 6 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1353193 D RGD:9068941 20200609 RGD protein:increased expression:esophagus PMID:22364398|REF_RGD_ID:7242413 11735883 BMP6 bone morphogenetic protein 6 gene DOID:4450 renal cell carcinoma ISO RGD:1353193 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney PMID:20016212|REF_RGD_ID:7242419 11735883 BMP6 bone morphogenetic protein 6 gene DOID:5426 primary ovarian insufficiency ISO RGD:1353193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11735883 BMP6 bone morphogenetic protein 6 gene DOID:630 genetic disease ISO RGD:1353193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735883 BMP6 bone morphogenetic protein 6 gene DOID:7148 rheumatoid arthritis ISO RGD:1353193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 11735883 BMP6 bone morphogenetic protein 6 gene DOID:8398 osteoarthritis ISO RGD:1353193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 11735883 BMP6 bone morphogenetic protein 6 gene DOID:9000955 Acute Otitis Media ISO RGD:732562 D RGD:9068941 20210611 RGD mRNA:decreased expression:middle ear (mouse) PMID:21889218|REF_RGD_ID:127284853 11735883 BMP6 bone morphogenetic protein 6 gene DOID:9000965 Neoplasm Metastasis severity ISO RGD:1353193 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;protein:increased expression:bone PMID:16166304|REF_RGD_ID:2289018 11735883 BMP6 bone morphogenetic protein 6 gene DOID:9000998 Brain Injuries ISO RGD:2214 D RGD:9068941 20200609 RGD protein:increased expression:brain, astrocyte, neuron PMID:16388909|REF_RGD_ID:2289020 11735883 BMP6 bone morphogenetic protein 6 gene DOID:9001547 Tibial Fractures ISO RGD:2214 D RGD:9068941 20200609 RGD PMID:23097200|REF_RGD_ID:7242189 11735883 BMP6 bone morphogenetic protein 6 gene DOID:9004009 Reperfusion Injury ISO RGD:2214 D RGD:9068941 20200609 RGD PMID:11245809|REF_RGD_ID:2289024 11735883 BMP6 bone morphogenetic protein 6 gene DOID:9005725 Iron Overload ISO RGD:1353193 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Iron overload, susceptibility to PMID:26582087|PMID:28335084|PMID:32464486 11735883 BMP6 bone morphogenetic protein 6 gene DOID:9005725 Iron Overload susceptibility ISO RGD:1353193 D RGD:7240710 20221214 OMIM 11735894 MIOS meiosis regulator for oocyte development gene DOID:630 genetic disease ISO RGD:1601868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735917 EYA2 EYA transcriptional coactivator and phosphatase 2 gene DOID:2234 focal epilepsy ISO RGD:1350703 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11735917 EYA2 EYA transcriptional coactivator and phosphatase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11735917 EYA2 EYA transcriptional coactivator and phosphatase 2 gene DOID:630 genetic disease ISO RGD:1350703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11735937 CCR4 C-C motif chemokine receptor 4 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1347259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 11735937 CCR4 C-C motif chemokine receptor 4 gene DOID:10608 celiac disease ISO RGD:1347259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 11735937 CCR4 C-C motif chemokine receptor 4 gene DOID:1793 pancreatic cancer ISO RGD:1347259 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:12761880|REF_RGD_ID:2317610 11735937 CCR4 C-C motif chemokine receptor 4 gene DOID:2316 brain ischemia ISO RGD:1347259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 11735937 CCR4 C-C motif chemokine receptor 4 gene DOID:2841 asthma ISO RGD:620594 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15993846|REF_RGD_ID:2306304 11735937 CCR4 C-C motif chemokine receptor 4 gene DOID:3070 high grade glioma ISO RGD:1347259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17522861 11735937 CCR4 C-C motif chemokine receptor 4 gene DOID:3744 cervical squamous cell carcinoma severity ISO RGD:1347259 D RGD:9068941 20200807 RGD PMID:28086903|REF_RGD_ID:38455996 11735937 CCR4 C-C motif chemokine receptor 4 gene DOID:3770 pulmonary fibrosis ISO RGD:620594 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15993846|REF_RGD_ID:2306304 11735937 CCR4 C-C motif chemokine receptor 4 gene DOID:630 genetic disease ISO RGD:1347259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735937 CCR4 C-C motif chemokine receptor 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1347259 D RGD:9068941 20200609 RGD mRNA:increased expression:synovium: PMID:25430645|REF_RGD_ID:10054499 11735937 CCR4 C-C motif chemokine receptor 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1347259 D RGD:9068941 20200609 RGD protein:increased expression:synovial membrane: PMID:19942450|REF_RGD_ID:10054497 11735937 CCR4 C-C motif chemokine receptor 4 gene DOID:8398 osteoarthritis ISO RGD:1347259 D RGD:9068941 20200609 RGD protein:increased expression:synovial membrane: PMID:19942450|REF_RGD_ID:10054497 11735937 CCR4 C-C motif chemokine receptor 4 gene DOID:8541 Sezary's disease ISO RGD:1347259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551670 11735937 CCR4 C-C motif chemokine receptor 4 gene DOID:9007188 Liver Neoplasms ISO RGD:1347259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11735948 NPM1 nucleophosmin 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:735682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia PMID:15659725|PMID:20026798|PMID:32581362 11735948 NPM1 nucleophosmin 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:735682 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14508522|PMID:26285909 11735948 NPM1 nucleophosmin 1 gene DOID:0070004 myeloid neoplasm ISO RGD:11000 D RGD:9068941 20200609 RGD DNA:insertion mutation:cds:c.854_857dupTCTG(mouse) PMID:23226219|REF_RGD_ID:11534989 11735948 NPM1 nucleophosmin 1 gene DOID:10908 hydrocephalus ISO RGD:735682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 11735948 NPM1 nucleophosmin 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:11000 D RGD:9068941 20200609 RGD protein:increased expression:cardiomyocyte: PMID:21444791|REF_RGD_ID:11535018 11735948 NPM1 nucleophosmin 1 gene DOID:2729 dyskeratosis congenita ISO RGD:735682 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31570891 11735948 NPM1 nucleophosmin 1 gene DOID:3910 lung adenocarcinoma ISO RGD:735682 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11735948 NPM1 nucleophosmin 1 gene DOID:5844 myocardial infarction ISO RGD:11000 D RGD:9068941 20200609 RGD protein:increased expression:cardiomyocyte: PMID:21444791|REF_RGD_ID:11535018 11735948 NPM1 nucleophosmin 1 gene DOID:630 genetic disease ISO RGD:735682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735948 NPM1 nucleophosmin 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:735682 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10619186 11735948 NPM1 nucleophosmin 1 gene DOID:9000647 Acute Erythroleukemia ISO RGD:735682 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926971 11735948 NPM1 nucleophosmin 1 gene DOID:9006205 Animal Disease Models ISO RGD:735682 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11735948 NPM1 nucleophosmin 1 gene DOID:9008691 Liver Injury disease_progression ISO RGD:3192 D RGD:9068941 20200609 RGD protein:increased expression:nucleus,cytoplasm: PMID:14635188|REF_RGD_ID:11534994 11735948 NPM1 nucleophosmin 1 gene DOID:9119 acute myeloid leukemia ISO RGD:735682 D RGD:7240710 20180130 OMIM 11735948 NPM1 nucleophosmin 1 gene DOID:9119 acute myeloid leukemia ISO RGD:735682 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:15659725|PMID:19657110|PMID:20026798|PMID:25741868|PMID:28492532|PMID:32581362 11735948 NPM1 nucleophosmin 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:735682 D RGD:9068941 20200609 RGD PMID:25992555|REF_RGD_ID:11070453 11735948 NPM1 nucleophosmin 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:735682 D RGD:9068941 20200609 RGD DNA:mutation:exon: PMID:17957027|REF_RGD_ID:11049474 11735948 NPM1 nucleophosmin 1 gene DOID:9119 acute myeloid leukemia onset ISO RGD:11000 D RGD:9068941 20200609 RGD PMID:21441929|REF_RGD_ID:11534990 11735981 KLK14 kallikrein related peptidase 14 gene DOID:12336 male infertility ISO RGD:1318477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 11735981 KLK14 kallikrein related peptidase 14 gene DOID:630 genetic disease ISO RGD:1318477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735990 LOC100983218 olfactory receptor 10K1 gene DOID:1540 parathyroid carcinoma ISO RGD:1351615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11735990 LOC100983218 olfactory receptor 10K1 gene DOID:630 genetic disease ISO RGD:1351615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11735990 LOC100983218 olfactory receptor 10K1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11736003 PIP4K2A phosphatidylinositol-5-phosphate 4-kinase type 2 alpha gene DOID:1909 melanoma ISO RGD:734348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11736003 PIP4K2A phosphatidylinositol-5-phosphate 4-kinase type 2 alpha gene DOID:630 genetic disease ISO RGD:734348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11736017 CUEDC2 CUE domain containing 2 gene DOID:630 genetic disease ISO RGD:1317669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11736034 AKR1C4 aldo-keto reductase family 1 member C4 gene DOID:0060041 autism spectrum disorder ISO RGD:1347108 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11736034 AKR1C4 aldo-keto reductase family 1 member C4 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1347108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11736034 AKR1C4 aldo-keto reductase family 1 member C4 gene DOID:0111773 46,XY sex reversal 8 ISO RGD:1347108 D RGD:7240710 20200610 OMIM 11736034 AKR1C4 aldo-keto reductase family 1 member C4 gene DOID:0111773 46,XY sex reversal 8 ISO RGD:1347108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 8 PMID:21802064|PMID:4352099 11736034 AKR1C4 aldo-keto reductase family 1 member C4 gene DOID:3312 bipolar disorder ISO RGD:1347108 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:21570127 11736034 AKR1C4 aldo-keto reductase family 1 member C4 gene DOID:5419 schizophrenia ISO RGD:1347108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11736034 AKR1C4 aldo-keto reductase family 1 member C4 gene DOID:630 genetic disease ISO RGD:1347108 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11736034 AKR1C4 aldo-keto reductase family 1 member C4 gene DOID:9004890 Paranoid Disorders ISO RGD:1347108 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:22356824 11736034 AKR1C4 aldo-keto reductase family 1 member C4 gene DOID:9006024 Hypotension ISO RGD:1347108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotension PMID:28492532 11736047 CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit gene DOID:0050857 Perrault syndrome ISO RGD:1343928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perrault syndrome PMID:17690910|PMID:21660509|PMID:22037954|PMID:23541340|PMID:24824130 11736047 CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit gene DOID:0080490 mucolipidosis type IV ISO RGD:1343928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11736047 CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit gene DOID:630 genetic disease ISO RGD:1343928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11736047 CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit gene DOID:9002757 Perrault Syndrome 3 ISO RGD:1343928 D RGD:7240710 20180130 OMIM 11736047 CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit gene DOID:9002757 Perrault Syndrome 3 ISO RGD:1343928 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Perrault syndrome 3 PMID:17690910|PMID:21660509|PMID:22037954|PMID:23541340|PMID:24033266|PMID:24824130|PMID:25741868|PMID:26467025|PMID:27087618|PMID:28492532 11736057 ADAMTS12 ADAM metallopeptidase with thrombospondin type 1 motif 12 gene DOID:630 genetic disease ISO RGD:1316449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11736057 ADAMTS12 ADAM metallopeptidase with thrombospondin type 1 motif 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11736057 ADAMTS12 ADAM metallopeptidase with thrombospondin type 1 motif 12 gene DOID:9007096 Stroke susceptibility ISO RGD:1316449 D RGD:9068941 20200609 RGD DNA:SNP::rs1364044(human) PMID:22990015|REF_RGD_ID:9681739 11736086 RFLNB refilin B gene DOID:13580 cholestasis ISO RGD:1601917 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 11736094 PRELID1 PRELI domain containing 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11736094 PRELID1 PRELI domain containing 1 gene DOID:0080600 COVID-19 ISO RGD:1604018 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11736094 PRELID1 PRELI domain containing 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1604018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11736094 PRELID1 PRELI domain containing 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1604018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 11736094 PRELID1 PRELI domain containing 1 gene DOID:630 genetic disease ISO RGD:1604018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11736094 PRELID1 PRELI domain containing 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1604018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11736094 PRELID1 PRELI domain containing 1 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1604018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 11736103 SHTN1 shootin 1 gene DOID:630 genetic disease ISO RGD:1347565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11736129 LOC100994952 apolipoprotein C-I, acidic form gene DOID:10652 Alzheimer's disease ISO RGD:735472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29107063|PMID:30319691 11736129 LOC100994952 apolipoprotein C-I, acidic form gene DOID:10652 Alzheimer's disease ISO RGD:735472 D RGD:9068941 20200609 RGD PMID:11825674|REF_RGD_ID:1578472 11736129 LOC100994952 apolipoprotein C-I, acidic form gene DOID:3587 pancreatic ductal carcinoma ISO RGD:735472 D RGD:9068941 20200609 RGD PMID:15876873|REF_RGD_ID:2325793 11736129 LOC100994952 apolipoprotein C-I, acidic form gene DOID:3717 gastric adenocarcinoma ISO RGD:735472 D RGD:9068941 20220901 RGD protein:decreased expression:serum PMID:21267442|REF_RGD_ID:153344621 11736129 LOC100994952 apolipoprotein C-I, acidic form gene DOID:6000 congestive heart failure ISO RGD:735472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 11736129 LOC100994952 apolipoprotein C-I, acidic form gene DOID:630 genetic disease ISO RGD:735472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11736129 LOC100994952 apolipoprotein C-I, acidic form gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735472 D RGD:9068941 20220908 RGD associated with hepatitis B; PMID:31211449|REF_RGD_ID:153350082 11736129 LOC100994952 apolipoprotein C-I, acidic form gene DOID:9002165 Diabetic Nephropathies ISO RGD:735472 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:very-low-density lipoprotein particle PMID:12753304|REF_RGD_ID:2313950 11736129 LOC100994952 apolipoprotein C-I, acidic form gene DOID:9006599 Hypertriglyceridemia ISO RGD:735472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:3757210|REF_RGD_ID:2313953 11736129 LOC100994952 apolipoprotein C-I, acidic form gene DOID:9007692 Insulin Resistance ISO RGD:735472 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:11723061|REF_RGD_ID:2313951 11736129 LOC100994952 apolipoprotein C-I, acidic form gene DOID:9008023 Memory Disorders ISO RGD:735472 D RGD:9068941 20200609 RGD PMID:11714102|REF_RGD_ID:1578426 11736129 LOC100994952 apolipoprotein C-I, acidic form gene DOID:9352 type 2 diabetes mellitus ISO RGD:735472 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:3757210|REF_RGD_ID:2313953 11736129 LOC100994952 apolipoprotein C-I, acidic form gene DOID:9970 obesity ISO RGD:735472 D RGD:9068941 20200609 RGD PMID:11723061|REF_RGD_ID:2313951 11736144 S1PR3 sphingosine-1-phosphate receptor 3 gene DOID:630 genetic disease ISO RGD:1352881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11736150 SH3RF2 SH3 domain containing ring finger 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1318169 D RGD:9068941 20220825 MouseDO 11736150 SH3RF2 SH3 domain containing ring finger 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318168 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11736150 SH3RF2 SH3 domain containing ring finger 2 gene DOID:630 genetic disease ISO RGD:1318168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11736150 SH3RF2 SH3 domain containing ring finger 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11736150 SH3RF2 SH3 domain containing ring finger 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318168 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11736178 ZSCAN25 zinc finger and SCAN domain containing 25 gene DOID:10825 essential hypertension ISO RGD:1318498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertension, salt-sensitive essential, susceptibility to PMID:11279519|PMID:11740341|PMID:12065767|PMID:12754175|PMID:15492926 11736178 ZSCAN25 zinc finger and SCAN domain containing 25 gene DOID:437 myasthenia gravis ISO RGD:1318498 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: refractory myasthenia gravis PMID:11279519|PMID:11740341|PMID:12065767|PMID:12754175|PMID:15492926 11736178 ZSCAN25 zinc finger and SCAN domain containing 25 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11736178 ZSCAN25 zinc finger and SCAN domain containing 25 gene DOID:630 genetic disease ISO RGD:1318498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11736203 ZNF551 zinc finger protein 551 gene DOID:630 genetic disease ISO RGD:1348729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11736255 TPBG trophoblast glycoprotein gene DOID:0111953 immunodeficiency 23 ISO RGD:1345613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 23 PMID:24931394 11736255 TPBG trophoblast glycoprotein gene DOID:630 genetic disease ISO RGD:1345613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11736255 TPBG trophoblast glycoprotein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11736264 TNFRSF13B TNF receptor superfamily member 13B gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1344563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 11736264 TNFRSF13B TNF receptor superfamily member 13B gene DOID:0050777 Joubert syndrome ISO RGD:1344563 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11736264 TNFRSF13B TNF receptor superfamily member 13B gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1344563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 11736264 TNFRSF13B TNF receptor superfamily member 13B gene DOID:0080006 bone development disease ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 11736264 TNFRSF13B TNF receptor superfamily member 13B gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1344563 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO ICOS DEFECT | ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:23956760|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25569260|PMID:25741868|PMID:26046366|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 11736264 TNFRSF13B TNF receptor superfamily member 13B gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1344563 D RGD:7240710 20190710 OMIM 11736264 TNFRSF13B TNF receptor superfamily member 13B gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1344563 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:15077010|PMID:16007086|PMID:16007087|PMID:16199547|PMID:16299065|PMID:16618819|PMID:16630947|PMID:16782407|PMID:16899196|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17464555|PMID:17492055|PMID:17556024|PMID:17576681|PMID:17697196|PMID:17947292|PMID:17983875|PMID:18200502|PMID:18496551|PMID:18509552|PMID:18954329|PMID:18978466|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19605846|PMID:19629655|PMID:19779048|PMID:20156508|PMID:20652909|PMID:20676093|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21675890|PMID:21724465|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22922270|PMID:22983507|PMID:23225259|PMID:23237420|PMID:23956760|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25205549|PMID:25326637|PMID:25569260|PMID:25741868|PMID:25959671|PMID:26046366|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29077208|PMID:29114388|PMID:29146883|PMID:29531467|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30090215|PMID:30290665|PMID:30301590|PMID:30665703|PMID:30723478|PMID:30739909|PMID:30993493|PMID:31203817|PMID:31530980|PMID:31618753|PMID:31681265|PMID:32135276|PMID:32185379|PMID:32499645|PMID:32581362|PMID:33046446|PMID:33258288|PMID:33425813|PMID:33726816|PMID:33859323|PMID:34093558|PMID:34426522|PMID:34441032|PMID:34573280|PMID:34975878|PMID:8072530|PMID:9536098 11736264 TNFRSF13B TNF receptor superfamily member 13B gene DOID:11162 respiratory failure ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Respiratory failure PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 11736264 TNFRSF13B TNF receptor superfamily member 13B gene DOID:11701 selective IgA deficiency disease ISO RGD:1344563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: IgAD1 PMID:17697196|PMID:18200502|PMID:18978466|PMID:18981294|PMID:19629655|PMID:21419480|PMID:21458042|PMID:21850030|PMID:22627058|PMID:22697072|PMID:22884984|PMID:25741868|PMID:27123465|PMID:28492532|PMID:30290665|PMID:31681265|PMID:34975878 11736264 TNFRSF13B TNF receptor superfamily member 13B gene DOID:11836 clubfoot ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital Talipes Equinovarus PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 11736264 TNFRSF13B TNF receptor superfamily member 13B gene DOID:12177 common variable immunodeficiency ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Common Variable Immune Deficiency, Dominant | ClinVar Annotator: match by term: Common variable agammaglobulinemia | ClinVar Annotator: match by term: Common variable immunodeficiency PMID:15077010|PMID:16007086|PMID:16007087|PMID:16299065|PMID:16630947|PMID:16782407|PMID:16899196|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17464555|PMID:17492055|PMID:17556024|PMID:17697196|PMID:17947292|PMID:17983875|PMID:18200502|PMID:18496551|PMID:18509552|PMID:18978466|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19605846|PMID:19629655|PMID:19779048|PMID:20156508|PMID:20676093|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21675890|PMID:21724465|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:23956760|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26046366|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30090215|PMID:30290665|PMID:30665703|PMID:30723478|PMID:30739909|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33046446|PMID:33258288|PMID:33726816|PMID:34426522|PMID:34975878|PMID:8072530 11736264 TNFRSF13B TNF receptor superfamily member 13B gene DOID:12849 autistic disorder ISO RGD:1344563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11736264 TNFRSF13B TNF receptor superfamily member 13B gene DOID:13832 patent ductus arteriosus ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Patency of the ductus arteriosus PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 11736264 TNFRSF13B TNF receptor superfamily member 13B gene DOID:1826 epilepsy ISO RGD:1344563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:17464555|PMID:20652909|PMID:25741868|PMID:28492532|PMID:33859323|PMID:34441032 11736264 TNFRSF13B TNF receptor superfamily member 13B gene DOID:3082 interstitial lung disease ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Interstitial lung disease PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 11736264 TNFRSF13B TNF receptor superfamily member 13B gene DOID:630 genetic disease ISO RGD:1344563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11736264 TNFRSF13B TNF receptor superfamily member 13B gene DOID:674 cleft palate ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 11736264 TNFRSF13B TNF receptor superfamily member 13B gene DOID:850 lung disease ISO RGD:1344563 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chronic lung disease PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 11736264 TNFRSF13B TNF receptor superfamily member 13B gene DOID:9000998 Brain Injuries ISO RGD:1344563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 11736264 TNFRSF13B TNF receptor superfamily member 13B gene DOID:9001895 Immunoglobulin A Deficiency 2 ISO RGD:1344563 D RGD:7240710 20180130 OMIM 11736264 TNFRSF13B TNF receptor superfamily member 13B gene DOID:9001895 Immunoglobulin A Deficiency 2 ISO RGD:1344563 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IgA, selective deficiency of, TACI related | ClinVar Annotator: match by term: Immunoglobulin A deficiency 2 PMID:15077010|PMID:16007086|PMID:16007087|PMID:16299065|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17947292|PMID:17983875|PMID:18496551|PMID:18509552|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19605846|PMID:19629655|PMID:19779048|PMID:20156508|PMID:20676093|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23225259|PMID:23237420|PMID:23956760|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26046366|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30301590|PMID:30665703|PMID:30723478|PMID:30739909|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33046446|PMID:33258288|PMID:33726816|PMID:34426522|PMID:8072530 11736264 TNFRSF13B TNF receptor superfamily member 13B gene DOID:9005616 Micrognathism ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 11736264 TNFRSF13B TNF receptor superfamily member 13B gene DOID:9007769 Pseudarthrosis ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pseudoarthrosis PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 11736264 TNFRSF13B TNF receptor superfamily member 13B gene DOID:9074 systemic lupus erythematosus ISO RGD:1618388 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 11736264 TNFRSF13B TNF receptor superfamily member 13B gene DOID:9538 multiple myeloma ISO RGD:1344563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23955597 11736278 SSBP2 single stranded DNA binding protein 2 gene DOID:10283 prostate cancer ISO RGD:1344325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11736278 SSBP2 single stranded DNA binding protein 2 gene DOID:3312 bipolar disorder ISO RGD:1344325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 11736278 SSBP2 single stranded DNA binding protein 2 gene DOID:630 genetic disease ISO RGD:1344325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11736278 SSBP2 single stranded DNA binding protein 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18559593 11736278 SSBP2 single stranded DNA binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11736305 LIMS2 LIM zinc finger domain containing 2 gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:1313204 D RGD:7240710 20190315 OMIM 11736305 LIMS2 LIM zinc finger domain containing 2 gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:1313204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:16199547|PMID:17576681|PMID:25589244|PMID:25741868|PMID:28492532|PMID:9536098 11736305 LIMS2 LIM zinc finger domain containing 2 gene DOID:0111220 centronuclear myopathy 2 ISO RGD:1313204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:28492532 11736305 LIMS2 LIM zinc finger domain containing 2 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1313204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 11736305 LIMS2 LIM zinc finger domain containing 2 gene DOID:1227 neutropenia ISO RGD:1313204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 11736305 LIMS2 LIM zinc finger domain containing 2 gene DOID:630 genetic disease ISO RGD:1313204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25589244|PMID:25741868|PMID:28492532 11736337 LOC100969890 cytochrome c oxidase subunit 4 isoform 1, mitochondrial gene DOID:11801 protein-energy malnutrition ISO RGD:68374 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:18725894|REF_RGD_ID:2301376 11736337 LOC100969890 cytochrome c oxidase subunit 4 isoform 1, mitochondrial gene DOID:13042 persistent fetal circulation syndrome ISO RGD:68539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 11736337 LOC100969890 cytochrome c oxidase subunit 4 isoform 1, mitochondrial gene DOID:630 genetic disease ISO RGD:68539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11736337 LOC100969890 cytochrome c oxidase subunit 4 isoform 1, mitochondrial gene DOID:9001257 Mitochondrial Complex IV Deficiency, Nuclear Type 16 ISO RGD:68539 D RGD:7240710 20201111 OMIM 11736337 LOC100969890 cytochrome c oxidase subunit 4 isoform 1, mitochondrial gene DOID:9001257 Mitochondrial Complex IV Deficiency, Nuclear Type 16 ISO RGD:68539 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 PMID:25741868|PMID:28492532|PMID:31290619 11736349 EDA ectodysplasin A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11736349 EDA ectodysplasin A gene DOID:0111664 ectodermal dysplasia 1 ISO RGD:1348155 D RGD:7240710 20180130 OMIM 11736349 EDA ectodysplasin A gene DOID:0111664 ectodermal dysplasia 1 ISO RGD:1348155 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia PMID:10469321|PMID:10951256|PMID:11279189|PMID:11295832|PMID:11309369|PMID:11378824|PMID:11416205|PMID:12930312|PMID:12949972|PMID:14656435|PMID:15461765|PMID:15663448|PMID:16199547|PMID:17066260|PMID:17576681|PMID:17970812|PMID:18076698|PMID:18231121|PMID:18384562|PMID:18386312|PMID:18386315|PMID:18427821|PMID:18451855|PMID:18510547|PMID:18545687|PMID:18657636|PMID:18666859|PMID:18688569|PMID:18821982|PMID:19278982|PMID:19438931|PMID:19504606|PMID:19533796|PMID:19592680|PMID:19623212|PMID:19921643|PMID:19960895|PMID:20077893|PMID:20236127|PMID:20374512|PMID:20486090|PMID:20979233|PMID:21357618|PMID:21457804|PMID:22032522|PMID:22382802|PMID:22428923|PMID:22633615|PMID:22875504|PMID:23293949|PMID:23553579|PMID:23687000|PMID:23744313|PMID:23926003|PMID:23989902|PMID:23991204|PMID:24033266|PMID:24279917|PMID:24312213|PMID:24330993|PMID:24487376|PMID:24631698|PMID:24648697|PMID:24689965|PMID:24715423|PMID:24724966|PMID:25333067|PMID:25626993|PMID:25640679|PMID:25741868|PMID:25846883|PMID:26273176|PMID:26345974|PMID:26502894|PMID:26634545|PMID:26753551|PMID:27054699|PMID:27144394|PMID:27264909|PMID:27305980|PMID:27538153|PMID:27657131|PMID:28045201|PMID:28492532|PMID:29444360|PMID:29676859|PMID:30088137|PMID:30117778|PMID:31306530|PMID:31489414|PMID:31652981|PMID:31796081|PMID:31852928|PMID:31924237|PMID:33502802|PMID:8696334|PMID:9507389|PMID:9536098|PMID:9630076|PMID:9683615|PMID:9736768|PMID:9856856 11736349 EDA ectodysplasin A gene DOID:10754 otitis media ISO RGD:1557590 D RGD:9068941 20200609 RGD PMID:31028034|REF_RGD_ID:14398763 11736349 EDA ectodysplasin A gene DOID:12849 autistic disorder ISO RGD:1348155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11736349 EDA ectodysplasin A gene DOID:13714 anodontia ISO RGD:1348155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Partial congenital absence of teeth PMID:19278982|PMID:19623212|PMID:24033266|PMID:24487376|PMID:25741868|PMID:26753551|PMID:27144394|PMID:28492532 11736349 EDA ectodysplasin A gene DOID:14693 Clouston syndrome ISO RGD:12147212 D RGD:9068941 20220630 OMIA Anhidrotic ectodermal dysplasia, EDA-related PMID:15500478|PMID:15946744|PMID:16151697|PMID:17924345|PMID:19533784|PMID:20078794|PMID:21730053|PMID:23441037|PMID:27449516|PMID:30276836|PMID:30397018|PMID:31122682|PMID:32482291|PMID:34076266|PMID:3710892|PMID:4055508|PMID:5462764|PMID:579352|PMID:6746381|PMID:9419891 11736349 EDA ectodysplasin A gene DOID:14737 craniofrontonasal syndrome ISO RGD:1348155 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17941886 11736349 EDA ectodysplasin A gene DOID:14793 hypohidrotic ectodermal dysplasia ISO RGD:1348155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia PMID:10951256|PMID:11279189|PMID:11295832|PMID:11309369|PMID:11378824|PMID:11416205|PMID:12930312|PMID:12949972|PMID:14656435|PMID:15461765|PMID:15663448|PMID:16199547|PMID:17066260|PMID:17576681|PMID:17970812|PMID:18076698|PMID:18231121|PMID:18384562|PMID:18386312|PMID:18386315|PMID:18427821|PMID:18451855|PMID:18510547|PMID:18545687|PMID:18657636|PMID:18666859|PMID:18821982|PMID:19278982|PMID:19533796|PMID:19592680|PMID:19623212|PMID:19921643|PMID:20236127|PMID:20374512|PMID:20486090|PMID:20979233|PMID:21357618|PMID:21457804|PMID:22032522|PMID:22382802|PMID:22428923|PMID:22633615|PMID:22875504|PMID:23293949|PMID:23553579|PMID:23744313|PMID:23926003|PMID:23989902|PMID:23991204|PMID:24033266|PMID:24279917|PMID:24312213|PMID:24330993|PMID:24487376|PMID:24648697|PMID:24689965|PMID:24724966|PMID:25333067|PMID:25626993|PMID:25741868|PMID:26273176|PMID:26345974|PMID:26634545|PMID:26753551|PMID:27054699|PMID:27144394|PMID:27305980|PMID:27538153|PMID:27657131|PMID:28045201|PMID:28492532|PMID:29444360|PMID:30117778|PMID:31306530|PMID:31796081|PMID:31924237|PMID:8696334|PMID:9507389|PMID:9536098|PMID:9630076|PMID:9683615|PMID:9736768|PMID:9856856 11736349 EDA ectodysplasin A gene DOID:1909 melanoma ISO RGD:1348155 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11736349 EDA ectodysplasin A gene DOID:2121 ectodermal dysplasia ISO RGD:1348155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia PMID:19921643|PMID:21357618|PMID:25741868|PMID:28492532 11736349 EDA ectodysplasin A gene DOID:630 genetic disease ISO RGD:1348155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12947561|PMID:19623212|PMID:22032522|PMID:24033266|PMID:28492532 11736349 EDA ectodysplasin A gene DOID:9000986 Selective Tooth Agenesis, X-Linked, 1 ISO RGD:1348155 D RGD:7240710 20180130 OMIM 11736349 EDA ectodysplasin A gene DOID:9000986 Selective Tooth Agenesis, X-Linked, 1 ISO RGD:1348155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, X-linked, 1 PMID:16583127|PMID:17256800|PMID:18545687|PMID:18657636|PMID:19278982|PMID:19623212|PMID:24312213|PMID:25741868|PMID:26753551|PMID:27144394|PMID:27305980|PMID:27657131|PMID:28492532|PMID:8696334|PMID:9683615 11736379 LOC100972888 cytochrome b-c1 complex subunit 2, mitochondrial gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1352193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11736379 LOC100972888 cytochrome b-c1 complex subunit 2, mitochondrial gene DOID:0080114 mitochondrial complex III deficiency nuclear type 5 ISO RGD:1352193 D RGD:7240710 20180130 OMIM 11736379 LOC100972888 cytochrome b-c1 complex subunit 2, mitochondrial gene DOID:0080114 mitochondrial complex III deficiency nuclear type 5 ISO RGD:1352193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 5 PMID:23281071|PMID:25741868|PMID:28275242|PMID:28492532 11736379 LOC100972888 cytochrome b-c1 complex subunit 2, mitochondrial gene DOID:0110480 autosomal recessive nonsyndromic deafness 22 ISO RGD:1352193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 22 PMID:25741868|PMID:33492714 11736379 LOC100972888 cytochrome b-c1 complex subunit 2, mitochondrial gene DOID:12849 autistic disorder ISO RGD:1352193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11736379 LOC100972888 cytochrome b-c1 complex subunit 2, mitochondrial gene DOID:5419 schizophrenia ISO RGD:1352193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11736379 LOC100972888 cytochrome b-c1 complex subunit 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1352193 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11736379 LOC100972888 cytochrome b-c1 complex subunit 2, mitochondrial gene DOID:9970 obesity ISO RGD:1352193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 11736397 UNC13A unc-13 homolog A gene DOID:0050753 cerebellar ataxia ISO RGD:1345956 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:28192369 11736397 UNC13A unc-13 homolog A gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1345956 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:25741868 11736397 UNC13A unc-13 homolog A gene DOID:1059 intellectual disability ISO RGD:1345956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11736397 UNC13A unc-13 homolog A gene DOID:12849 autistic disorder ISO RGD:1345956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11736397 UNC13A unc-13 homolog A gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1345956 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:27790088 11736397 UNC13A unc-13 homolog A gene DOID:332 amyotrophic lateral sclerosis no_association ISO RGD:1345956 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs12608932 (human) PMID:20385924|REF_RGD_ID:5686382 11736397 UNC13A unc-13 homolog A gene DOID:630 genetic disease ISO RGD:1345956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11736397 UNC13A unc-13 homolog A gene DOID:9002231 Fetal Growth Retardation ISO RGD:619722 D RGD:9068941 20200609 RGD PMID:18787382|REF_RGD_ID:5686390 11736397 UNC13A unc-13 homolog A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11736442 PGM3 phosphoglucomutase 3 gene DOID:0080545 hyper IgE syndrome ISO RGD:1603410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgE syndrome PMID:24698316|PMID:3500672 11736442 PGM3 phosphoglucomutase 3 gene DOID:0111953 immunodeficiency 23 ISO RGD:1603410 D RGD:7240710 20180130 OMIM 11736442 PGM3 phosphoglucomutase 3 gene DOID:0111953 immunodeficiency 23 ISO RGD:1603410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 23 PMID:1245758|PMID:14981714|PMID:16199547|PMID:17548465|PMID:17576681|PMID:24033266|PMID:24589341|PMID:24698316|PMID:24931394|PMID:25741868|PMID:26482871|PMID:28492532|PMID:28543917|PMID:32506361|PMID:33098103|PMID:3500672|PMID:9536098 11736442 PGM3 phosphoglucomutase 3 gene DOID:3307 teratoma ISO RGD:1603410 D RGD:9068941 20200609 RGD PMID:5259759|REF_RGD_ID:2299871 11736442 PGM3 phosphoglucomutase 3 gene DOID:4362 cervical cancer ISO RGD:1603410 D RGD:9068941 20200609 RGD PMID:508567|REF_RGD_ID:2299870 11736442 PGM3 phosphoglucomutase 3 gene DOID:627 severe combined immunodeficiency ISO RGD:1603410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 11736442 PGM3 phosphoglucomutase 3 gene DOID:630 genetic disease ISO RGD:1603410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11736466 CCDC92 coiled-coil domain containing 92 gene DOID:630 genetic disease ISO RGD:1604596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11736466 CCDC92 coiled-coil domain containing 92 gene DOID:9000528 Coronary Disease ISO RGD:1604596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 11736466 CCDC92 coiled-coil domain containing 92 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 11736483 MARS1 methionyl-tRNA synthetase 1 gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:1313280 D RGD:7240710 20180130 OMIM 11736483 MARS1 methionyl-tRNA synthetase 1 gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:1313280 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2U PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23729695|PMID:24103465|PMID:24354524|PMID:24482476|PMID:25640679|PMID:25741868|PMID:25913036|PMID:28148924|PMID:28492532|PMID:28708278|PMID:29582526|PMID:29655802|PMID:30723866|PMID:31356216|PMID:32376792|PMID:33909043|PMID:34169998|PMID:34298581|PMID:9536098 11736483 MARS1 methionyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1313280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:23729695|PMID:24103465|PMID:25741868|PMID:25913036|PMID:28492532|PMID:29655802|PMID:31356216|PMID:32376792 11736483 MARS1 methionyl-tRNA synthetase 1 gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:1313280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary alveolar proteinosis PMID:25913036 11736483 MARS1 methionyl-tRNA synthetase 1 gene DOID:12377 spinal muscular atrophy ISO RGD:1313280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:28492532 11736483 MARS1 methionyl-tRNA synthetase 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1313280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28832565 11736483 MARS1 methionyl-tRNA synthetase 1 gene DOID:607 paraplegia ISO RGD:1313280 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11736483 MARS1 methionyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1313280 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:24103465|PMID:24482476|PMID:25741868|PMID:25913036|PMID:28492532|PMID:28708278|PMID:32376792|PMID:9536098 11736483 MARS1 methionyl-tRNA synthetase 1 gene DOID:6846 familial melanoma ISO RGD:1313280 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 11736483 MARS1 methionyl-tRNA synthetase 1 gene DOID:9000026 Spastic Paraplegia 70, Autosomal Recessive ISO RGD:1313280 D RGD:7240710 20230505 OMIM 11736483 MARS1 methionyl-tRNA synthetase 1 gene DOID:9000026 Spastic Paraplegia 70, Autosomal Recessive ISO RGD:1313280 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 70, autosomal recessive PMID:24482476|PMID:28492532|PMID:28708278 11736483 MARS1 methionyl-tRNA synthetase 1 gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1313280 D RGD:7240710 20181114 OMIM 11736483 MARS1 methionyl-tRNA synthetase 1 gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1313280 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease | ClinVar Annotator: match by term: PULMONARY ALVEOLAR PROTEINOSIS, REUNION ISLAND PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23729695|PMID:24103465|PMID:24482476|PMID:25640679|PMID:25741868|PMID:25913036|PMID:28148924|PMID:28492532|PMID:28708278|PMID:29582526|PMID:29655802|PMID:30723866|PMID:32376792|PMID:33909043|PMID:34169998|PMID:34298581|PMID:9536098 11736483 MARS1 methionyl-tRNA synthetase 1 gene DOID:9004318 Nonphotosensitive Trichothiodystrophy 9 ISO RGD:1313280 D RGD:7240710 20220112 OMIM 11736483 MARS1 methionyl-tRNA synthetase 1 gene DOID:9004318 Nonphotosensitive Trichothiodystrophy 9 ISO RGD:1313280 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 9, nonphotosensitive PMID:28492532|PMID:33909043 11736513 LOC100981154 histone H2B type 1-K gene DOID:630 genetic disease ISO RGD:1353528 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11736513 LOC100981154 histone H2B type 1-K gene DOID:9006342 Tessadori-van Haaften Neurodevelopmental Syndrome 4 ISO RGD:1353528 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tessadori-Van Haaften neurodevelopmental syndrome 4 PMID:35202563 11736513 LOC100981154 histone H2B type 1-K gene DOID:9008939 Breast Neoplasms ISO RGD:1353528 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 11736520 ARHGEF7 Rho guanine nucleotide exchange factor 7 gene DOID:2222 factor X deficiency ISO RGD:736143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 11736520 ARHGEF7 Rho guanine nucleotide exchange factor 7 gene DOID:630 genetic disease ISO RGD:736143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11736563 NKX2-2 NK2 homeobox 2 gene DOID:3213 demyelinating disease ISO RGD:1308443 D RGD:9068941 20200609 RGD protein:increased expression:oligodendrocyte PMID:15048854|REF_RGD_ID:2306244 11736563 NKX2-2 NK2 homeobox 2 gene DOID:630 genetic disease ISO RGD:1318213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11736569 F13A1 coagulation factor XIII A chain gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:732286 D RGD:9068941 20200609 RGD protein:increased expression:B lymphoblast: PMID:16894461|REF_RGD_ID:11041855 11736569 F13A1 coagulation factor XIII A chain gene DOID:0111477 combined oxidative phosphorylation deficiency 14 ISO RGD:732286 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 PMID:22833457|PMID:28492532 11736569 F13A1 coagulation factor XIII A chain gene DOID:0111907 thrombophilia due to thrombin defect ISO RGD:732286 D RGD:7240710 20200729 OMIM 11736569 F13A1 coagulation factor XIII A chain gene DOID:0111907 thrombophilia due to thrombin defect ISO RGD:732286 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Thrombophilia due to thrombin defect PMID:22995991|PMID:9531026 11736569 F13A1 coagulation factor XIII A chain gene DOID:10808 gastric ulcer ISO RGD:621495 D RGD:9068941 20200609 RGD PMID:11435721|REF_RGD_ID:708325 11736569 F13A1 coagulation factor XIII A chain gene DOID:11247 disseminated intravascular coagulation ISO RGD:732286 D RGD:9068941 20200609 RGD PMID:16642548|REF_RGD_ID:1581020 11736569 F13A1 coagulation factor XIII A chain gene DOID:2211 factor XIII deficiency ISO RGD:732286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary factor XIII deficiency disease PMID:31136071 11736569 F13A1 coagulation factor XIII A chain gene DOID:2213 hemorrhagic disease ISO RGD:732286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 11736569 F13A1 coagulation factor XIII A chain gene DOID:2349 arteriosclerosis ISO RGD:732286 D RGD:9068941 20200609 RGD PMID:11941274|REF_RGD_ID:1581023 11736569 F13A1 coagulation factor XIII A chain gene DOID:2452 thrombophilia ISO RGD:732286 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 11736569 F13A1 coagulation factor XIII A chain gene DOID:3042 allergic contact dermatitis ISO RGD:732286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 11736569 F13A1 coagulation factor XIII A chain gene DOID:5844 myocardial infarction ISO RGD:732286 D RGD:7240710 20230505 OMIM 11736569 F13A1 coagulation factor XIII A chain gene DOID:5844 myocardial infarction ISO RGD:732286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myocardial infarction, protection against PMID:10365735|PMID:10910914|PMID:12072871|PMID:12456499|PMID:17393027|PMID:25741868|PMID:8025280|PMID:9459313|PMID:9550516 11736569 F13A1 coagulation factor XIII A chain gene DOID:630 genetic disease ISO RGD:732286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11736569 F13A1 coagulation factor XIII A chain gene DOID:8778 Crohn's disease ISO RGD:732286 D RGD:9068941 20200609 RGD associated with Fistula;protein:decreased activity:plasma: PMID:7611208|REF_RGD_ID:10450739 11736569 F13A1 coagulation factor XIII A chain gene DOID:8947 diabetic retinopathy ISO RGD:732286 D RGD:9068941 20200609 RGD protein:increased expression:optic choroid vascular plexus: PMID:11375345|REF_RGD_ID:8693344 11736569 F13A1 coagulation factor XIII A chain gene DOID:9000528 Coronary Disease ISO RGD:732286 D RGD:9068941 20200609 RGD PMID:11391716|REF_RGD_ID:1581030 11736569 F13A1 coagulation factor XIII A chain gene DOID:9002676 Cerebral Hemorrhage ISO RGD:732286 D RGD:9068941 20200609 RGD PMID:9550516|REF_RGD_ID:1581027 11736569 F13A1 coagulation factor XIII A chain gene DOID:9003281 Spontaneous Abortions ISO RGD:1550288 D RGD:9068941 20200609 RGD PMID:12933578|REF_RGD_ID:10450744 11736569 F13A1 coagulation factor XIII A chain gene DOID:9003871 Venous Thrombosis ISO RGD:732286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10365735 11736569 F13A1 coagulation factor XIII A chain gene DOID:9003871 Venous Thrombosis ISO RGD:732286 D RGD:9068941 20200609 RGD PMID:9920839|REF_RGD_ID:1581032 11736569 F13A1 coagulation factor XIII A chain gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:732286 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.V34L(human) PMID:12358922|REF_RGD_ID:10450745 11736569 F13A1 coagulation factor XIII A chain gene DOID:9005854 Factor XIII, A Subunit, Deficiency Of ISO RGD:732286 D RGD:7240710 20180130 OMIM 11736569 F13A1 coagulation factor XIII A chain gene DOID:9005854 Factor XIII, A Subunit, Deficiency Of ISO RGD:732286 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Factor XIII subunit A deficiency | ClinVar Annotator: match by term: Factor XIII, A subunit, deficiency of PMID:10027709|PMID:10365735|PMID:10910914|PMID:11167856|PMID:11380452|PMID:11692020|PMID:12072871|PMID:12100162|PMID:12456499|PMID:12801297|PMID:1353995|PMID:14695539|PMID:16543965|PMID:16763156|PMID:17393027|PMID:17549292|PMID:17880458|PMID:19438481|PMID:20179087|PMID:21512576|PMID:21633364|PMID:21812861|PMID:22995991|PMID:24118344|PMID:24194833|PMID:25741868|PMID:26503545|PMID:26852661|PMID:28492532|PMID:28520207|PMID:31064749|PMID:33114181|PMID:7236530|PMID:7727776|PMID:7918041|PMID:8025280|PMID:8130686|PMID:8547636|PMID:8584988|PMID:9459313|PMID:9531026|PMID:9531593|PMID:9550516|PMID:9657440|PMID:9712293|PMID:9827915|PMID:9920838 11736569 F13A1 coagulation factor XIII A chain gene DOID:9006889 Uterine Hemorrhage ISO RGD:1550288 D RGD:9068941 20200609 RGD PMID:12933578|REF_RGD_ID:10450744 11736569 F13A1 coagulation factor XIII A chain gene DOID:9007096 Stroke ISO RGD:732286 D RGD:9068941 20200609 RGD PMID:11692020|REF_RGD_ID:1581026 11736569 F13A1 coagulation factor XIII A chain gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1550288 D RGD:9068941 20200609 RGD PMID:22019897|REF_RGD_ID:11041813 11736569 F13A1 coagulation factor XIII A chain gene DOID:9008217 Hemorrhage ISO RGD:1550288 D RGD:9068941 20200609 RGD PMID:12529747|REF_RGD_ID:11041809 11736569 F13A1 coagulation factor XIII A chain gene DOID:9286 priapism susceptibility ISO RGD:732286 D RGD:9068941 20200609 RGD associated with sickle cell anemia;DNA:SNPs::multiple(human) PMID:17408468|REF_RGD_ID:10450728 11736569 F13A1 coagulation factor XIII A chain gene DOID:9477 pulmonary embolism ISO RGD:732286 D RGD:9068941 20200609 RGD PMID:12958612|REF_RGD_ID:1581021 11736588 AKAIN1 A-kinase anchor inhibitor 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:5131749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11736588 AKAIN1 A-kinase anchor inhibitor 1 gene DOID:1059 intellectual disability ISO RGD:5131749 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11736588 AKAIN1 A-kinase anchor inhibitor 1 gene DOID:630 genetic disease ISO RGD:5131749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11736599 C1H1orf226 chromosome 1 C1orf226 homolog gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:2301261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11736599 C1H1orf226 chromosome 1 C1orf226 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:2301261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11736599 C1H1orf226 chromosome 1 C1orf226 homolog gene DOID:630 genetic disease ISO RGD:2301261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11736599 C1H1orf226 chromosome 1 C1orf226 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:2301261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11736623 SPINK8 serine peptidase inhibitor Kazal type 8 (putative) gene DOID:630 genetic disease ISO RGD:1606051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11736623 SPINK8 serine peptidase inhibitor Kazal type 8 (putative) gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1606051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11736636 IMPG2 interphotoreceptor matrix proteoglycan 2 gene DOID:0050661 vitelliform macular dystrophy ISO RGD:1348827 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11736636 IMPG2 interphotoreceptor matrix proteoglycan 2 gene DOID:0050661 vitelliform macular dystrophy ISO RGD:1551510 D RGD:9068941 20220825 MouseDO OMIM:153700 | OMIM:153840 | OMIM:608161 | OMIM:616151 | OMIM:616152 11736636 IMPG2 interphotoreceptor matrix proteoglycan 2 gene DOID:0110371 retinitis pigmentosa 56 ISO RGD:1348827 D RGD:7240710 20180130 OMIM 11736636 IMPG2 interphotoreceptor matrix proteoglycan 2 gene DOID:0110371 retinitis pigmentosa 56 ISO RGD:1348827 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 56 PMID:20673862|PMID:24876279|PMID:25741868|PMID:28492532|PMID:28559085|PMID:30718709|PMID:31736247 11736636 IMPG2 interphotoreceptor matrix proteoglycan 2 gene DOID:10283 prostate cancer ISO RGD:1348827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11736636 IMPG2 interphotoreceptor matrix proteoglycan 2 gene DOID:10584 retinitis pigmentosa ISO RGD:1348827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:20673862|PMID:22277662|PMID:24876279|PMID:24938718|PMID:25085631|PMID:25741868|PMID:25999674|PMID:26355662|PMID:26667666|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30054919|PMID:30718709|PMID:31264916|PMID:9536098 11736636 IMPG2 interphotoreceptor matrix proteoglycan 2 gene DOID:4448 macular degeneration ISO RGD:1348827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:20673862|PMID:24876279|PMID:28492532|PMID:30718709 11736636 IMPG2 interphotoreceptor matrix proteoglycan 2 gene DOID:630 genetic disease ISO RGD:1348827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23265383|PMID:28492532 11736636 IMPG2 interphotoreceptor matrix proteoglycan 2 gene DOID:8501 fundus dystrophy ISO RGD:1348827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:17576681|PMID:20673862|PMID:24876279|PMID:25472526|PMID:25741868|PMID:26667666|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28644393|PMID:28771251|PMID:31264916|PMID:9536098 11736636 IMPG2 interphotoreceptor matrix proteoglycan 2 gene DOID:9002891 Vitelliform Macular Dystrophy 2 ISO RGD:1348827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 PMID:25741868|PMID:28492532 11736636 IMPG2 interphotoreceptor matrix proteoglycan 2 gene DOID:9006690 Vitelliform Macular Dystrophy 5 ISO RGD:1348827 D RGD:7240710 20180130 OMIM 11736636 IMPG2 interphotoreceptor matrix proteoglycan 2 gene DOID:9006690 Vitelliform Macular Dystrophy 5 ISO RGD:1348827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 5 PMID:20673862|PMID:24876279|PMID:25085631|PMID:25741868|PMID:25999674|PMID:26355662|PMID:28492532|PMID:28644393|PMID:31264916 11736636 IMPG2 interphotoreceptor matrix proteoglycan 2 gene DOID:9007965 Vitelliform Macular Dystrophy 3 ISO RGD:1348827 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 3 11736636 IMPG2 interphotoreceptor matrix proteoglycan 2 gene DOID:9008296 Eye Abnormalities ISO RGD:1348827 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:20673862|PMID:28041643 11736663 TANK TRAF family member associated NFKB activator gene DOID:0080600 COVID-19 ISO RGD:734196 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11736663 TANK TRAF family member associated NFKB activator gene DOID:12849 autistic disorder ISO RGD:734196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213|PMID:25741868 11736663 TANK TRAF family member associated NFKB activator gene DOID:630 genetic disease ISO RGD:734196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11736663 TANK TRAF family member associated NFKB activator gene DOID:9008939 Breast Neoplasms ISO RGD:734196 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 11736686 SERPINH1 serpin family H member 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:732731 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11736686 SERPINH1 serpin family H member 1 gene DOID:0110346 osteogenesis imperfecta type 10 ISO RGD:732731 D RGD:7240710 20230517 OMIM 11736686 SERPINH1 serpin family H member 1 gene DOID:0110346 osteogenesis imperfecta type 10 ISO RGD:732731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: OI, TYPE X | ClinVar Annotator: match by term: Osteogenesis imperfecta type 10 PMID:20188343|PMID:25510505|PMID:25741868|PMID:28492532 11736686 SERPINH1 serpin family H member 1 gene DOID:0111144 preterm premature rupture of the membranes ISO RGD:732731 D RGD:7240710 20230517 OMIM 11736686 SERPINH1 serpin family H member 1 gene DOID:0111144 preterm premature rupture of the membranes ISO RGD:732731 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Preterm premature rupture of the membranes PMID:16938879|PMID:25741868|PMID:28492532 11736686 SERPINH1 serpin family H member 1 gene DOID:1059 intellectual disability ISO RGD:732731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11736686 SERPINH1 serpin family H member 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:732731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 11736686 SERPINH1 serpin family H member 1 gene DOID:12347 osteogenesis imperfecta ISO RGD:732731 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:28492532 11736686 SERPINH1 serpin family H member 1 gene DOID:326 ischemia ISO RGD:732731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19458120 11736686 SERPINH1 serpin family H member 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:732731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 11736686 SERPINH1 serpin family H member 1 gene DOID:5082 liver cirrhosis ISO RGD:732731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24321339 11736686 SERPINH1 serpin family H member 1 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:732731 D RGD:9068941 20210212 RGD associated with Schistosomiasis Japonica;mRNA:increased expression:liver (human) PMID:24295791|REF_RGD_ID:41410784 11736686 SERPINH1 serpin family H member 1 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:732731 D RGD:9068941 20210212 RGD associated with schistosomiasis;mRNA:increased expression:liver (human) PMID:25111595|REF_RGD_ID:41410780 11736686 SERPINH1 serpin family H member 1 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:737440 D RGD:9068941 20210219 RGD associated with Schistosomiasis Japonica PMID:31612672|REF_RGD_ID:41412161 11736686 SERPINH1 serpin family H member 1 gene DOID:5082 liver cirrhosis treatment ISO RGD:737440 D RGD:9068941 20210212 RGD associated with Schistosomiasis Japonica PMID:24295791|PMID:32410640|REF_RGD_ID:41410784|REF_RGD_ID:41410785 11736686 SERPINH1 serpin family H member 1 gene DOID:630 genetic disease ISO RGD:732731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11736686 SERPINH1 serpin family H member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18376398|PMID:25380136 11736686 SERPINH1 serpin family H member 1 gene DOID:9002433 Schistosomiasis Japonica ISO RGD:737440 D RGD:9068941 20210219 RGD mRNA,protein:increased expression:liver, serum (mouse) PMID:31612672|REF_RGD_ID:41412161 11736686 SERPINH1 serpin family H member 1 gene DOID:9002488 Peritoneal Fibrosis disease_progression ISO RGD:69302 D RGD:9068941 20210212 RGD protein:increased expression:peritoneum (rat) PMID:12691502|REF_RGD_ID:41410779 11736686 SERPINH1 serpin family H member 1 gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:69302 D RGD:9068941 20210212 RGD PMID:12911538|PMID:32585450|REF_RGD_ID:41410781|REF_RGD_ID:41410783 11736686 SERPINH1 serpin family H member 1 gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:737440 D RGD:9068941 20210212 RGD PMID:15458466|REF_RGD_ID:41410782 11736699 NMUR2 neuromedin U receptor 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343070 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11736699 NMUR2 neuromedin U receptor 2 gene DOID:630 genetic disease ISO RGD:1343070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11736699 NMUR2 neuromedin U receptor 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343070 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11736707 SNAI3 snail family transcriptional repressor 3 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1320115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 11736707 SNAI3 snail family transcriptional repressor 3 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1320115 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11736707 SNAI3 snail family transcriptional repressor 3 gene DOID:14780 KBG syndrome ISO RGD:1320115 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 11736707 SNAI3 snail family transcriptional repressor 3 gene DOID:630 genetic disease ISO RGD:1320115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11736707 SNAI3 snail family transcriptional repressor 3 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1320115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 11736707 SNAI3 snail family transcriptional repressor 3 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1320115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 11736717 PHLPP2 PH domain and leucine rich repeat protein phosphatase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1604636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11736717 PHLPP2 PH domain and leucine rich repeat protein phosphatase 2 gene DOID:630 genetic disease ISO RGD:1604636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11736741 LOC100989119 olfactory receptor 2M5 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1351101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11736741 LOC100989119 olfactory receptor 2M5 gene DOID:1540 parathyroid carcinoma ISO RGD:1351101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11736741 LOC100989119 olfactory receptor 2M5 gene DOID:630 genetic disease ISO RGD:1351101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11736741 LOC100989119 olfactory receptor 2M5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11736741 LOC100989119 olfactory receptor 2M5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11736750 SIPA1L1 signal induced proliferation associated 1 like 1 gene DOID:630 genetic disease ISO RGD:733053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11736750 SIPA1L1 signal induced proliferation associated 1 like 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:733053 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11736750 SIPA1L1 signal induced proliferation associated 1 like 1 gene DOID:9004657 Weight Gain ISO RGD:733053 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11736750 SIPA1L1 signal induced proliferation associated 1 like 1 gene DOID:9775 diastolic heart failure ISO RGD:733053 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 11736820 CASP9 caspase 9 gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:61867 D RGD:9068941 20200609 RGD associated with gastric adenocarcinoma PMID:29588340|REF_RGD_ID:13792594 11736820 CASP9 caspase 9 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:69147 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11736820 CASP9 caspase 9 gene DOID:0080855 Parkinsonism treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:26612350|REF_RGD_ID:13503344 11736820 CASP9 caspase 9 gene DOID:1002 endometritis treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:26920733|REF_RGD_ID:13782281 11736820 CASP9 caspase 9 gene DOID:104 bacterial infectious disease ISO RGD:62159 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:16443785|REF_RGD_ID:2311430 11736820 CASP9 caspase 9 gene DOID:10534 stomach cancer treatment ISO RGD:69147 D RGD:9068941 20210625 RGD human cells in mouse model PMID:29408335|PMID:32106377|REF_RGD_ID:127284846|REF_RGD_ID:127284886 11736820 CASP9 caspase 9 gene DOID:10652 Alzheimer's disease ISO RGD:69147 D RGD:9068941 20200609 RGD PMID:12633148|REF_RGD_ID:13782269 11736820 CASP9 caspase 9 gene DOID:10652 Alzheimer's disease treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:29777699|REF_RGD_ID:13782186 11736820 CASP9 caspase 9 gene DOID:10763 hypertension ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:27929425|REF_RGD_ID:13782308 11736820 CASP9 caspase 9 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:69147 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.Q221R (rs1052576) (human) PMID:19252927|REF_RGD_ID:2315930 11736820 CASP9 caspase 9 gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:69147 D RGD:9068941 20200609 RGD DNA:polymorphism, deletion: :1263A>G, 293del (human) PMID:19412632|REF_RGD_ID:2315929 11736820 CASP9 caspase 9 gene DOID:114 heart disease ISO RGD:61867 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased activation:heart PMID:15805231|REF_RGD_ID:2311320 11736820 CASP9 caspase 9 gene DOID:114 heart disease ISO RGD:61867 D RGD:9068941 20200609 RGD associated with Multiple Trauma PMID:28825094|REF_RGD_ID:13782301 11736820 CASP9 caspase 9 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:26431790|REF_RGD_ID:11537057 11736820 CASP9 caspase 9 gene DOID:12337 varicocele ISO RGD:61867 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:19145435|REF_RGD_ID:2311432 11736820 CASP9 caspase 9 gene DOID:12858 Huntington's disease severity ISO RGD:62159 D RGD:9068941 20200609 RGD protein:increased expression:striatum: PMID:12095160|REF_RGD_ID:13432083 11736820 CASP9 caspase 9 gene DOID:12858 Huntington's disease severity ISO RGD:69147 D RGD:9068941 20200609 RGD protein:increased expression:caudate nucleus: PMID:12095160|REF_RGD_ID:13432083 11736820 CASP9 caspase 9 gene DOID:12930 dilated cardiomyopathy ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:26004897|REF_RGD_ID:13782348 11736820 CASP9 caspase 9 gene DOID:1312 focal segmental glomerulosclerosis treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:28245472|REF_RGD_ID:13782344 11736820 CASP9 caspase 9 gene DOID:14330 Parkinson's disease ISO RGD:69147 D RGD:9068941 20200609 RGD protein:increased activity:blood, leukocyte PMID:16505307|REF_RGD_ID:13503345 11736820 CASP9 caspase 9 gene DOID:1612 breast cancer ISO RGD:69147 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast PMID:17011986|REF_RGD_ID:2290492 11736820 CASP9 caspase 9 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:69147 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-1263A>G (human) PMID:20357690|REF_RGD_ID:13451540 11736820 CASP9 caspase 9 gene DOID:1793 pancreatic cancer treatment ISO RGD:69147 D RGD:9068941 20200609 RGD PMID:19209030|REF_RGD_ID:13462046 11736820 CASP9 caspase 9 gene DOID:2055 post-traumatic stress disorder ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:25331812|REF_RGD_ID:13782181 11736820 CASP9 caspase 9 gene DOID:224 transient cerebral ischemia ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:21712070|REF_RGD_ID:10053706 11736820 CASP9 caspase 9 gene DOID:224 transient cerebral ischemia ISO RGD:61867 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:neocortex PMID:15246841|REF_RGD_ID:2311321 11736820 CASP9 caspase 9 gene DOID:224 transient cerebral ischemia ISO RGD:69147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11333366 11736820 CASP9 caspase 9 gene DOID:2316 brain ischemia ISO RGD:69147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11756504 11736820 CASP9 caspase 9 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:69147 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 11736820 CASP9 caspase 9 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:61867 D RGD:9068941 20200609 RGD protein:increased activity:spinal cord PMID:16847061|REF_RGD_ID:2311466 11736820 CASP9 caspase 9 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:26868427|REF_RGD_ID:13782346 11736820 CASP9 caspase 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:69147 D RGD:9068941 20200609 RGD DNA, mRNA:SNP, decreased expression:exon, lung:rs1052576 (human) PMID:17285546|REF_RGD_ID:13434907 11736820 CASP9 caspase 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:69147 D RGD:9068941 20200609 RGD DNA:SNP: :rs4645981 (human) PMID:20661084|REF_RGD_ID:13434908 11736820 CASP9 caspase 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:69147 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:16231180|REF_RGD_ID:13434909 11736820 CASP9 caspase 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:69147 D RGD:9068941 20200609 RGD mRNA:splice variant:lung PMID:20972334|REF_RGD_ID:9999427 11736820 CASP9 caspase 9 gene DOID:3908 lung non-small cell carcinoma no_association ISO RGD:69147 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs1052571 (human) PMID:17285546|REF_RGD_ID:13434907 11736820 CASP9 caspase 9 gene DOID:5082 liver cirrhosis ISO RGD:62159 D RGD:9068941 20200609 RGD associated with cholestasis PMID:29105510|REF_RGD_ID:13782297 11736820 CASP9 caspase 9 gene DOID:5199 ureteral obstruction treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:29781318|REF_RGD_ID:13782341 11736820 CASP9 caspase 9 gene DOID:5327 retinal detachment ISO RGD:69147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18497877 11736820 CASP9 caspase 9 gene DOID:5434 scrapie ISO RGD:62159 D RGD:9068941 20200609 RGD PMID:27921253|REF_RGD_ID:13782156 11736820 CASP9 caspase 9 gene DOID:557 kidney disease ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:29257007|REF_RGD_ID:13782293 11736820 CASP9 caspase 9 gene DOID:574 peripheral nervous system disease ISO RGD:69147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 11736820 CASP9 caspase 9 gene DOID:630 genetic disease ISO RGD:69147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11736820 CASP9 caspase 9 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:29133031|REF_RGD_ID:13782296 11736820 CASP9 caspase 9 gene DOID:83 cataract treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:23508955|REF_RGD_ID:13782357 11736820 CASP9 caspase 9 gene DOID:8398 osteoarthritis treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:29138829|REF_RGD_ID:13782343 11736820 CASP9 caspase 9 gene DOID:863 nervous system disease ISO RGD:69147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11150333 11736820 CASP9 caspase 9 gene DOID:8947 diabetic retinopathy ISO RGD:69147 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased activation:retina PMID:18369072|REF_RGD_ID:2311244 11736820 CASP9 caspase 9 gene DOID:9000039 Spinal Cord Injuries ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:21748659|REF_RGD_ID:10053608 11736820 CASP9 caspase 9 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:27339639|REF_RGD_ID:13782345 11736820 CASP9 caspase 9 gene DOID:9000081 Lymphatic Metastasis ISO RGD:69147 D RGD:9068941 20200609 RGD associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP:exon:rs1052576 (human) PMID:17285546|REF_RGD_ID:13434907 11736820 CASP9 caspase 9 gene DOID:9000197 Edema ISO RGD:69147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19874808 11736820 CASP9 caspase 9 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:26163325|REF_RGD_ID:13782347 11736820 CASP9 caspase 9 gene DOID:9000808 Hypercholesterolemia ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:24484682|REF_RGD_ID:13782354 11736820 CASP9 caspase 9 gene DOID:9000855 Experimental Radiation Injuries treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:24939579|REF_RGD_ID:13782350 11736820 CASP9 caspase 9 gene DOID:9001390 Testis Reperfusion Injury ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:26754107|REF_RGD_ID:11555349 11736820 CASP9 caspase 9 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:23364428|REF_RGD_ID:13782358 11736820 CASP9 caspase 9 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:61867 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:29606028|PMID:30038056|REF_RGD_ID:13782342|REF_RGD_ID:13792586 11736820 CASP9 caspase 9 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 11736820 CASP9 caspase 9 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:62159 D RGD:9068941 20200609 RGD PMID:23833961|REF_RGD_ID:13702874 11736820 CASP9 caspase 9 gene DOID:9002661 Diabetes Complications treatment ISO RGD:61867 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24252320|REF_RGD_ID:13782355 11736820 CASP9 caspase 9 gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:28096675|REF_RGD_ID:13782306 11736820 CASP9 caspase 9 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:61867 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:18521931|REF_RGD_ID:2311436 11736820 CASP9 caspase 9 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:23046993|REF_RGD_ID:13782359 11736820 CASP9 caspase 9 gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:61867 D RGD:9068941 20230128 RGD PMID:24089674|REF_RGD_ID:155882465 11736820 CASP9 caspase 9 gene DOID:9004009 Reperfusion Injury treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:29568770|REF_RGD_ID:13792595 11736820 CASP9 caspase 9 gene DOID:9004484 Sepsis treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:29180187|REF_RGD_ID:13782295 11736820 CASP9 caspase 9 gene DOID:9004590 Acute Liver Failure treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:26238033|REF_RGD_ID:13782174 11736820 CASP9 caspase 9 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:17297389|REF_RGD_ID:2315933 11736820 CASP9 caspase 9 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:62159 D RGD:9068941 20200609 RGD PMID:20012353|REF_RGD_ID:2315928 11736820 CASP9 caspase 9 gene DOID:9005233 Experimental Mammary Neoplasms severity ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:20732338|REF_RGD_ID:10053708 11736820 CASP9 caspase 9 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:26699876|REF_RGD_ID:13782283 11736820 CASP9 caspase 9 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61867 D RGD:9068941 20200609 RGD protein:increased activity, increased expression:pituitary gland PMID:15976052|REF_RGD_ID:2311319 11736820 CASP9 caspase 9 gene DOID:9005930 Endotoxemia treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:23214195|REF_RGD_ID:10400903 11736820 CASP9 caspase 9 gene DOID:9006937 NSAID-Enteropathy ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:25014874|REF_RGD_ID:13782349 11736820 CASP9 caspase 9 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:28992627|REF_RGD_ID:13782299 11736820 CASP9 caspase 9 gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:23946597|REF_RGD_ID:13782356 11736820 CASP9 caspase 9 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:61867 D RGD:9068941 20200609 RGD protein:increased activity:cardiomyocyte,endothelial cell PMID:11934844|REF_RGD_ID:13782263 11736820 CASP9 caspase 9 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:69147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14998631 11736820 CASP9 caspase 9 gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:62159 D RGD:9068941 20230429 RGD PMID:30259997|REF_RGD_ID:329337366 11736820 CASP9 caspase 9 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:29538428|REF_RGD_ID:13782276 11736820 CASP9 caspase 9 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:69147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23721890|PMID:28492532 11736820 CASP9 caspase 9 gene DOID:9256 colorectal cancer ISO RGD:69147 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1263A>G (human) PMID:21538054|REF_RGD_ID:13210582 11736820 CASP9 caspase 9 gene DOID:9256 colorectal cancer no_association ISO RGD:69147 D RGD:9068941 20200609 RGD DNA:SNPs::rs4646077, rs4233532, rs2881930 (human) PMID:23303631|REF_RGD_ID:13210584 11736820 CASP9 caspase 9 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69147 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:16038259|REF_RGD_ID:2311246 11736820 CASP9 caspase 9 gene DOID:9744 type 1 diabetes mellitus ISO RGD:62159 D RGD:9068941 20200609 RGD PMID:14617576|REF_RGD_ID:2311322 11736820 CASP9 caspase 9 gene DOID:9744 type 1 diabetes mellitus ISO RGD:69147 D RGD:9068941 20200609 RGD PMID:17880769|REF_RGD_ID:2311245 11736833 TAS2R5 taste 2 receptor member 5 gene DOID:0080690 RASopathy ISO RGD:1353421 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 11736833 TAS2R5 taste 2 receptor member 5 gene DOID:630 genetic disease ISO RGD:1353421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11736833 TAS2R5 taste 2 receptor member 5 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1353421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 11736838 PDCD7 programmed cell death 7 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1319039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11736838 PDCD7 programmed cell death 7 gene DOID:2717 Bloom syndrome ISO RGD:1319039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11736838 PDCD7 programmed cell death 7 gene DOID:630 genetic disease ISO RGD:1319039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11736838 PDCD7 programmed cell death 7 gene DOID:9256 colorectal cancer ISO RGD:1319039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11736848 FHAD1 forkhead associated phosphopeptide binding domain 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1605889 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11736848 FHAD1 forkhead associated phosphopeptide binding domain 1 gene DOID:630 genetic disease ISO RGD:1605889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11736892 STRAP serine/threonine kinase receptor associated protein gene DOID:0080199 colorectal carcinoma ISO RGD:1322398 D RGD:9068941 20200609 RGD PMID:16778189|REF_RGD_ID:1581429 11736892 STRAP serine/threonine kinase receptor associated protein gene DOID:299 adenocarcinoma ISO RGD:1322398 D RGD:9068941 20200609 RGD PMID:16778189|REF_RGD_ID:1581429 11736892 STRAP serine/threonine kinase receptor associated protein gene DOID:3168 squamous cell neoplasm ISO RGD:1322398 D RGD:9068941 20200609 RGD PMID:16778189|REF_RGD_ID:1581429 11736892 STRAP serine/threonine kinase receptor associated protein gene DOID:3905 lung carcinoma ISO RGD:1322398 D RGD:9068941 20200609 RGD PMID:16778189|REF_RGD_ID:1581429 11736892 STRAP serine/threonine kinase receptor associated protein gene DOID:4552 large cell carcinoma ISO RGD:1322398 D RGD:9068941 20200609 RGD PMID:16778189|REF_RGD_ID:1581429 11736892 STRAP serine/threonine kinase receptor associated protein gene DOID:630 genetic disease ISO RGD:1322398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11736892 STRAP serine/threonine kinase receptor associated protein gene DOID:9008443 Colorectal Neoplasms ISO RGD:1322398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15720808 11736913 PSG6 pregnancy specific beta-1-glycoprotein 6 gene DOID:0060041 autism spectrum disorder ISO RGD:1345325 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11736913 PSG6 pregnancy specific beta-1-glycoprotein 6 gene DOID:5419 schizophrenia ISO RGD:1345325 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11736913 PSG6 pregnancy specific beta-1-glycoprotein 6 gene DOID:630 genetic disease ISO RGD:1345325 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11736960 LOC106634333 olfactory receptor 2AK2 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1343468 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11736960 LOC106634333 olfactory receptor 2AK2 gene DOID:1540 parathyroid carcinoma ISO RGD:1343468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11736960 LOC106634333 olfactory receptor 2AK2 gene DOID:630 genetic disease ISO RGD:1343468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11736960 LOC106634333 olfactory receptor 2AK2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11736960 LOC106634333 olfactory receptor 2AK2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11736968 USP54 ubiquitin specific peptidase 54 gene DOID:630 genetic disease ISO RGD:1343407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737026 MBOAT1 membrane bound O-acyltransferase domain containing 1 gene DOID:13580 cholestasis ISO RGD:1322766 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 11737026 MBOAT1 membrane bound O-acyltransferase domain containing 1 gene DOID:630 genetic disease ISO RGD:1322766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737043 ROCK2 Rho associated coiled-coil containing protein kinase 2 gene DOID:5419 schizophrenia ISO RGD:731503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11737043 ROCK2 Rho associated coiled-coil containing protein kinase 2 gene DOID:6000 congestive heart failure ISO RGD:731503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11737043 ROCK2 Rho associated coiled-coil containing protein kinase 2 gene DOID:630 genetic disease ISO RGD:731503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737043 ROCK2 Rho associated coiled-coil containing protein kinase 2 gene DOID:9003936 Cardiomegaly ISO RGD:731503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11737043 ROCK2 Rho associated coiled-coil containing protein kinase 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3590 D RGD:9068941 20200609 RGD PMID:17316608|REF_RGD_ID:1642807 11737043 ROCK2 Rho associated coiled-coil containing protein kinase 2 gene DOID:9006205 Animal Disease Models ISO RGD:731503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11737043 ROCK2 Rho associated coiled-coil containing protein kinase 2 gene DOID:9007023 Prenatal Injuries ISO RGD:731503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18956198 11737043 ROCK2 Rho associated coiled-coil containing protein kinase 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:731503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11737043 ROCK2 Rho associated coiled-coil containing protein kinase 2 gene DOID:9008386 Hydrops Fetalis ISO RGD:731503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868 11737043 ROCK2 Rho associated coiled-coil containing protein kinase 2 gene DOID:9565 dextrocardia ISO RGD:731503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dextrocardia 11737084 SLC66A3 solute carrier family 66 member 3 gene DOID:5419 schizophrenia ISO RGD:1315648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11737084 SLC66A3 solute carrier family 66 member 3 gene DOID:630 genetic disease ISO RGD:1315648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737084 SLC66A3 solute carrier family 66 member 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315648 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11737084 SLC66A3 solute carrier family 66 member 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1315648 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 11737097 ZNF599 zinc finger protein 599 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1603572 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11737097 ZNF599 zinc finger protein 599 gene DOID:630 genetic disease ISO RGD:1603572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737105 LYPLA1 lysophospholipase 1 gene DOID:630 genetic disease ISO RGD:735384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737129 PPIF peptidylprolyl isomerase F gene DOID:0080600 COVID-19 ISO RGD:1354243 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 11737129 PPIF peptidylprolyl isomerase F gene DOID:5295 intestinal disease ISO RGD:1354243 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20668000 11737129 PPIF peptidylprolyl isomerase F gene DOID:630 genetic disease ISO RGD:1354243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737129 PPIF peptidylprolyl isomerase F gene DOID:9005175 Ulcer ISO RGD:1354243 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20668000 11737139 SBSN suprabasin gene DOID:0110222 Brugada syndrome 5 ISO RGD:1602809 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11737139 SBSN suprabasin gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1602809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11737139 SBSN suprabasin gene DOID:543 dystonia ISO RGD:1602809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11737139 SBSN suprabasin gene DOID:630 genetic disease ISO RGD:1602809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737149 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319963 D RGD:7240710 20200826 OMIM 11737149 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:23664117|PMID:24766538|PMID:25149931|PMID:25741868|PMID:27023906|PMID:28229453|PMID:28492532|PMID:28649518|PMID:29230159|PMID:29443383|PMID:29620724|PMID:29931299|PMID:31674007|PMID:9683594 11737149 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:23664117|PMID:24766538|PMID:25149931|PMID:25741868|PMID:26477546|PMID:27023906|PMID:28229453|PMID:28492532|PMID:28649518|PMID:29230159|PMID:29443383|PMID:29620724|PMID:29931299|PMID:31614862|PMID:31674007|PMID:32381727|PMID:33631843|PMID:9683594 11737149 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1319963 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11737149 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1319963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11737149 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:0080738 Ehlers-Danlos syndrome spondylodysplastic type 1 ISO RGD:1319963 D RGD:9068941 20200903 CTD CTD Direct Evidence: marker/mechanism 11737149 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1319963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11737149 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1319963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11737149 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1319963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11737149 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:0111934 immunodeficiency 38 ISO RGD:1319963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11737149 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:0111935 immunodeficiency 16 ISO RGD:1319963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11737149 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 ISO RGD:1319963 D RGD:7240710 20190501 OMIM 11737149 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 ISO RGD:1319963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures PMID:23664117|PMID:23664118|PMID:24766538|PMID:25741868|PMID:27023906|PMID:28492532|PMID:29620724 11737149 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:0112280 spondyloepiphyseal dysplasia ISO RGD:1319963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia PMID:24033266 11737149 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:630 genetic disease ISO RGD:1319963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11737149 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:9000730 Al-Gazali Syndrome ISO RGD:1319963 D RGD:7240710 20221116 OMIM 11737149 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:9000730 Al-Gazali Syndrome ISO RGD:1319963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Al-Gazali syndrome PMID:10319196|PMID:25149931|PMID:25741868|PMID:28492532|PMID:29443383|PMID:29931299 11737149 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11737149 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1319963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11737149 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1319963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11737159 LOC100972478 GLIPR1 like 2 gene DOID:630 genetic disease ISO RGD:1606963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737168 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:28492532 11737168 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy 11737168 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:0060321 umbilical hernia ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Umbilical hernia PMID:25741868 11737168 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:0060327 omphalocele ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Omphalocoele PMID:25741868 11737168 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1353726 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11737168 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:0080068 Charcot-Marie-Tooth disease type 6 ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY AND OPTIC ATROPHY 11737168 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:1353726 D RGD:7240710 20180130 OMIM 11737168 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:1353726 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 | ClinVar Annotator: match by term: Nevo syndrome PMID:10329027|PMID:10502784|PMID:10686424|PMID:10874315|PMID:11001813|PMID:1345174|PMID:14565595|PMID:15666309|PMID:15979919|PMID:16199547|PMID:16758144|PMID:17576681|PMID:19320026|PMID:21699693|PMID:22001912|PMID:222849|PMID:25277362|PMID:25326635|PMID:25637337|PMID:25640679|PMID:25741868|PMID:28306225|PMID:28384719|PMID:28492532|PMID:3110540|PMID:32174067|PMID:32381727|PMID:32746767|PMID:34265140|PMID:35252061|PMID:3931636|PMID:416188|PMID:4373475|PMID:5016372|PMID:6089551|PMID:7977351|PMID:8163671|PMID:8449506|PMID:8533783|PMID:8574422|PMID:8981946|PMID:9152832|PMID:9220536|PMID:9450904|PMID:9536098|PMID:9617436|PMID:9893157 11737168 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:10908 hydrocephalus ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrocephalus PMID:25741868 11737168 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:11383 cryptorchidism ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral cryptorchidism PMID:25741868 11737168 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1353726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:10329027|PMID:10686424|PMID:10874315|PMID:11001813|PMID:14565595|PMID:16758144|PMID:17576681|PMID:21699693|PMID:25326635|PMID:25741868|PMID:28306225|PMID:28492532|PMID:32746767|PMID:9220536|PMID:9536098|PMID:9893157 11737168 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1353726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10329027|PMID:10686424|PMID:10874315|PMID:11001813|PMID:14565595|PMID:16199547|PMID:16758144|PMID:17576681|PMID:21699693|PMID:22001912|PMID:25326635|PMID:25741868|PMID:28306225|PMID:28384719|PMID:28492532|PMID:34265140|PMID:9220536|PMID:9450904|PMID:9536098|PMID:9893157 11737168 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1353726 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10329027|PMID:10686424|PMID:10874315|PMID:11001813|PMID:14565595|PMID:16199547|PMID:16758144|PMID:17576681|PMID:21699693|PMID:22001912|PMID:25326635|PMID:25741868|PMID:28306225|PMID:28384719|PMID:28492532|PMID:32381727|PMID:34265140|PMID:35252061|PMID:9220536|PMID:9450904|PMID:9536098|PMID:9893157 11737168 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:1459 hypothyroidism ISO RGD:621382 D RGD:9068941 20200609 RGD mRNA:decreased expression:multiple organs PMID:15817667|REF_RGD_ID:2314536 11737168 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:2477 motor peripheral neuropathy ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy 11737168 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:423 myopathy ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy 11737168 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:630 genetic disease ISO RGD:1353726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11737168 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:9003358 Kyphosis ISO RGD:1353726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15666309 11737168 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:9005077 Joint Instability ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:25741868 11737168 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:25741868 11737168 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 11737193 DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:0060336 3-methylglutaconic aciduria ISO RGD:1603908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria PMID:25741868 11737193 DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:0110000 3-methylglutaconic aciduria type 5 ISO RGD:1603908 D RGD:7240710 20180130 OMIM 11737193 DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:0110000 3-methylglutaconic aciduria type 5 ISO RGD:1603908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 PMID:16055927|PMID:16199547|PMID:17576681|PMID:22797137|PMID:22981120|PMID:25741868|PMID:27426421|PMID:27928778|PMID:28492532|PMID:29625556|PMID:34008892|PMID:9536098 11737193 DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:0110004 3-methylglutaconic aciduria type 3 ISO RGD:1603908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 PMID:16055927|PMID:27928778|PMID:28492532 11737193 DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:0111546 Currarino syndrome ISO RGD:1603908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11737193 DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1603908 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 11737193 DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:630 genetic disease ISO RGD:1603908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11737203 DTNB dystrobrevin beta gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1319991 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 11737203 DTNB dystrobrevin beta gene DOID:630 genetic disease ISO RGD:1319991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737244 GPC5 glypican 5 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1318835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 11737244 GPC5 glypican 5 gene DOID:1184 nephrotic syndrome ISO RGD:1318835 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21441931 11737244 GPC5 glypican 5 gene DOID:630 genetic disease ISO RGD:1318835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737244 GPC5 glypican 5 gene DOID:9001542 Albuminuria ISO RGD:1318835 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21441931 11737260 AMBRA1 autophagy and beclin 1 regulator 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1604349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11737260 AMBRA1 autophagy and beclin 1 regulator 1 gene DOID:0080074 neural tube defect ISO RGD:1604349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect 11737260 AMBRA1 autophagy and beclin 1 regulator 1 gene DOID:10485 esophageal atresia ISO RGD:1604349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 11737260 AMBRA1 autophagy and beclin 1 regulator 1 gene DOID:1059 intellectual disability ISO RGD:1604349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11737260 AMBRA1 autophagy and beclin 1 regulator 1 gene DOID:10652 Alzheimer's disease ISO RGD:1551408 D RGD:9068941 20200609 RGD PMID:23910655|REF_RGD_ID:14390071 11737260 AMBRA1 autophagy and beclin 1 regulator 1 gene DOID:4752 multiple system atrophy ISO RGD:1604349 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:27875637|REF_RGD_ID:14390070 11737260 AMBRA1 autophagy and beclin 1 regulator 1 gene DOID:630 genetic disease ISO RGD:1604349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737260 AMBRA1 autophagy and beclin 1 regulator 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1604349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 11737260 AMBRA1 autophagy and beclin 1 regulator 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1604349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11737296 RILPL1 Rab interacting lysosomal protein like 1 gene DOID:0081300 oculopharyngodistal myopathy 4 ISO RGD:1602163 D RGD:7240710 20220406 OMIM 11737296 RILPL1 Rab interacting lysosomal protein like 1 gene DOID:630 genetic disease ISO RGD:1602163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737321 HELT helt bHLH transcription factor gene DOID:630 genetic disease ISO RGD:2292703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737331 VAMP8 vesicle associated membrane protein 8 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1347649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 11737331 VAMP8 vesicle associated membrane protein 8 gene DOID:305 carcinoma ISO RGD:1347649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11737331 VAMP8 vesicle associated membrane protein 8 gene DOID:3393 coronary artery disease ISO RGD:1347649 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 11737331 VAMP8 vesicle associated membrane protein 8 gene DOID:630 genetic disease ISO RGD:1347649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737331 VAMP8 vesicle associated membrane protein 8 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1347649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11737331 VAMP8 vesicle associated membrane protein 8 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1347649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11737338 GPR3 G protein-coupled receptor 3 gene DOID:630 genetic disease ISO RGD:1350754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737344 GGPS1 geranylgeranyl diphosphate synthase 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1343459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868|PMID:32403198 11737344 GGPS1 geranylgeranyl diphosphate synthase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1343459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11737344 GGPS1 geranylgeranyl diphosphate synthase 1 gene DOID:630 genetic disease ISO RGD:1343459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737344 GGPS1 geranylgeranyl diphosphate synthase 1 gene DOID:9006229 MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME ISO RGD:1343459 D RGD:7240710 20211027 OMIM 11737344 GGPS1 geranylgeranyl diphosphate synthase 1 gene DOID:9006229 MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME ISO RGD:1343459 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome PMID:25741868|PMID:32403198|PMID:35869884 11737344 GGPS1 geranylgeranyl diphosphate synthase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11737361 LOC100979953 40S ribosomal protein S15 gene DOID:3892 insulinoma ISO RGD:62026 D RGD:9068941 20200618 RGD PMID:3019805|REF_RGD_ID:61740 11737362 PTHLH parathyroid hormone like hormone gene DOID:0080011 bone resorption disease ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16769263 11737362 PTHLH parathyroid hormone like hormone gene DOID:0080053 Albright's hereditary osteodystrophy ISO RGD:11188 D RGD:9068941 20220825 MouseDO OMIM:103580 11737362 PTHLH parathyroid hormone like hormone gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25035110 11737362 PTHLH parathyroid hormone like hormone gene DOID:0110976 brachydactyly type E2 ISO RGD:736996 D RGD:7240710 20180130 OMIM 11737362 PTHLH parathyroid hormone like hormone gene DOID:0110976 brachydactyly type E2 ISO RGD:736996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly type E2 PMID:20170896|PMID:25741868|PMID:25801215|PMID:26763883|PMID:29947179|PMID:31283647 11737362 PTHLH parathyroid hormone like hormone gene DOID:12678 hypercalcemia ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10638776|PMID:11054717|PMID:12358896|PMID:3616618 11737362 PTHLH parathyroid hormone like hormone gene DOID:169 neuroendocrine tumor ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17625444 11737362 PTHLH parathyroid hormone like hormone gene DOID:1793 pancreatic cancer ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17625444 11737362 PTHLH parathyroid hormone like hormone gene DOID:3908 lung non-small cell carcinoma ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17676588 11737362 PTHLH parathyroid hormone like hormone gene DOID:4480 achondroplasia ISO RGD:11188 D RGD:9068941 20220825 MouseDO OMIM:100800 11737362 PTHLH parathyroid hormone like hormone gene DOID:4988 alcoholic pancreatitis ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22280800 11737362 PTHLH parathyroid hormone like hormone gene DOID:630 genetic disease ISO RGD:736996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20170896|PMID:24028571|PMID:25801215|PMID:26640227|PMID:26733284|PMID:26763883|PMID:28211986|PMID:28492532 11737362 PTHLH parathyroid hormone like hormone gene DOID:850 lung disease ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20857298 11737362 PTHLH parathyroid hormone like hormone gene DOID:9000067 Congenital Foot Deformities ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20170896 11737362 PTHLH parathyroid hormone like hormone gene DOID:9000139 Superior Vena Cava Syndrome ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12358896 11737362 PTHLH parathyroid hormone like hormone gene DOID:9000197 Edema ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25035110 11737362 PTHLH parathyroid hormone like hormone gene DOID:9002211 Hyperalgesia ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16769263 11737362 PTHLH parathyroid hormone like hormone gene DOID:9002304 Prostatic Neoplasms ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16243370 11737362 PTHLH parathyroid hormone like hormone gene DOID:9003281 Spontaneous Abortions ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11737362 PTHLH parathyroid hormone like hormone gene DOID:9004795 Congenital Hand Deformities ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20170896 11737362 PTHLH parathyroid hormone like hormone gene DOID:9006081 Osteolysis ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11054717 11737362 PTHLH parathyroid hormone like hormone gene DOID:9006190 Chronic Pancreatitis ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25035110 11737362 PTHLH parathyroid hormone like hormone gene DOID:9006257 Growth Disorders ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20170896 11737362 PTHLH parathyroid hormone like hormone gene DOID:9007346 Cachexia ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17878525 11737362 PTHLH parathyroid hormone like hormone gene DOID:9008939 Breast Neoplasms ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22267197 11737362 PTHLH parathyroid hormone like hormone gene DOID:9538 multiple myeloma ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11054717 11737375 SCGB2A1 secretoglobin family 2A member 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1347983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11737375 SCGB2A1 secretoglobin family 2A member 1 gene DOID:1059 intellectual disability ISO RGD:1347983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11737375 SCGB2A1 secretoglobin family 2A member 1 gene DOID:630 genetic disease ISO RGD:1347983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737382 RAB4A RAB4A, member RAS oncogene family gene DOID:1540 parathyroid carcinoma ISO RGD:1351964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11737382 RAB4A RAB4A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1351964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737382 RAB4A RAB4A, member RAS oncogene family gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11737400 ZNF362 zinc finger protein 362 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1602182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11737400 ZNF362 zinc finger protein 362 gene DOID:630 genetic disease ISO RGD:1602182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737413 LOC100986730 guanine nucleotide-binding protein G(q) subunit alpha gene DOID:0080075 Neu-Laxova syndrome 2 ISO RGD:731425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neu-Laxova syndrome 2 PMID:17436247|PMID:25152457|PMID:28492532 11737413 LOC100986730 guanine nucleotide-binding protein G(q) subunit alpha gene DOID:0111529 familial multiple nevi flammei ISO RGD:731425 D RGD:7240710 20180214 OMIM 11737413 LOC100986730 guanine nucleotide-binding protein G(q) subunit alpha gene DOID:0111529 familial multiple nevi flammei ISO RGD:731425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial multiple nevi flammei | ClinVar Annotator: match by term: Port-wine stain familial multiple PMID:23656586|PMID:25188413|PMID:25741868 11737413 LOC100986730 guanine nucleotide-binding protein G(q) subunit alpha gene DOID:0111563 Sturge-Weber syndrome ISO RGD:731425 D RGD:7240710 20180130 OMIM 11737413 LOC100986730 guanine nucleotide-binding protein G(q) subunit alpha gene DOID:0111563 Sturge-Weber syndrome ISO RGD:731425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sturge-Weber syndrome PMID:23656586|PMID:25188413|PMID:25741868 11737413 LOC100986730 guanine nucleotide-binding protein G(q) subunit alpha gene DOID:1247 blood coagulation disease ISO RGD:731425 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9296496 11737413 LOC100986730 guanine nucleotide-binding protein G(q) subunit alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:1550022 D RGD:9068941 20200609 RGD PMID:9811897|REF_RGD_ID:1598475 11737413 LOC100986730 guanine nucleotide-binding protein G(q) subunit alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:1550022 D RGD:9068941 20220825 MouseDO 11737413 LOC100986730 guanine nucleotide-binding protein G(q) subunit alpha gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:731425 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16267159 11737413 LOC100986730 guanine nucleotide-binding protein G(q) subunit alpha gene DOID:1324 lung cancer ISO RGD:731425 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 11737413 LOC100986730 guanine nucleotide-binding protein G(q) subunit alpha gene DOID:1682 congenital heart disease ISO RGD:731425 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9687499 11737413 LOC100986730 guanine nucleotide-binding protein G(q) subunit alpha gene DOID:1909 melanoma ISO RGD:731425 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Melanoma PMID:1328859|PMID:18719078|PMID:19078957|PMID:21083380|PMID:22253748|PMID:22653968|PMID:22733540|PMID:22808163|PMID:23656586|PMID:25157968|PMID:25188413|PMID:2549426|PMID:25741868 11737413 LOC100986730 guanine nucleotide-binding protein G(q) subunit alpha gene DOID:2926 Klippel-Trenaunay syndrome ISO RGD:731425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angio-osteohypertrophy syndrome PMID:23656586|PMID:25188413|PMID:25741868 11737413 LOC100986730 guanine nucleotide-binding protein G(q) subunit alpha gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:731425 D RGD:9068941 20210423 RGD PMID:24518087|REF_RGD_ID:126781753 11737413 LOC100986730 guanine nucleotide-binding protein G(q) subunit alpha gene DOID:6000 congestive heart failure ISO RGD:1550022 D RGD:9068941 20220825 MouseDO 11737413 LOC100986730 guanine nucleotide-binding protein G(q) subunit alpha gene DOID:6000 congestive heart failure disease_progression ISO RGD:731425 D RGD:9068941 20210423 RGD DNA:polymorphism:promoter:[-694C>T;-695G>T] (human) PMID:17720980|REF_RGD_ID:126781754 11737413 LOC100986730 guanine nucleotide-binding protein G(q) subunit alpha gene DOID:6000 congestive heart failure no_association ISO RGD:731425 D RGD:9068941 20210423 RGD DNA:polymorphisms:promoter:multiple PMID:17720980|REF_RGD_ID:126781754 11737413 LOC100986730 guanine nucleotide-binding protein G(q) subunit alpha gene DOID:6039 uveal melanoma ISO RGD:731425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uveal melanoma PMID:1328859|PMID:18719078|PMID:19078957|PMID:21083380|PMID:22253748|PMID:22653968|PMID:22733540|PMID:22808163|PMID:25157968|PMID:2549426 11737413 LOC100986730 guanine nucleotide-binding protein G(q) subunit alpha gene DOID:630 genetic disease ISO RGD:731425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737413 LOC100986730 guanine nucleotide-binding protein G(q) subunit alpha gene DOID:9001542 Albuminuria ISO RGD:731425 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16267159 11737413 LOC100986730 guanine nucleotide-binding protein G(q) subunit alpha gene DOID:9001616 Port-Wine Stain ISO RGD:731425 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: PORT-WINE STAIN PMID:23656586|PMID:25188413|PMID:25741868 11737413 LOC100986730 guanine nucleotide-binding protein G(q) subunit alpha gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:731425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:1328859|PMID:18719078|PMID:19078957|PMID:21083380|PMID:22253748|PMID:22653968|PMID:22733540|PMID:22808163|PMID:2549426 11737413 LOC100986730 guanine nucleotide-binding protein G(q) subunit alpha gene DOID:9003936 Cardiomegaly ISO RGD:1550022 D RGD:9068941 20200609 RGD PMID:9811897|REF_RGD_ID:1598475 11737413 LOC100986730 guanine nucleotide-binding protein G(q) subunit alpha gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1550022 D RGD:9068941 20200609 RGD PMID:9687499|REF_RGD_ID:737757 11737413 LOC100986730 guanine nucleotide-binding protein G(q) subunit alpha gene DOID:9008731 Craniofacial Abnormalities ISO RGD:731425 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9687499 11737423 ZNF800 zinc finger protein 800 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11737423 ZNF800 zinc finger protein 800 gene DOID:630 genetic disease ISO RGD:1603887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737451 SLC50A1 solute carrier family 50 member 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1607017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11737451 SLC50A1 solute carrier family 50 member 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1607017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11737451 SLC50A1 solute carrier family 50 member 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1607017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11737451 SLC50A1 solute carrier family 50 member 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1607017 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11737451 SLC50A1 solute carrier family 50 member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1607017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11737451 SLC50A1 solute carrier family 50 member 1 gene DOID:5812 MHC class II deficiency ISO RGD:1607017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11737451 SLC50A1 solute carrier family 50 member 1 gene DOID:630 genetic disease ISO RGD:1607017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737451 SLC50A1 solute carrier family 50 member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11737481 TEX10 testis expressed 10 gene DOID:1059 intellectual disability ISO RGD:1323824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11737481 TEX10 testis expressed 10 gene DOID:630 genetic disease ISO RGD:1323824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737501 SLC35F5 solute carrier family 35 member F5 gene DOID:630 genetic disease ISO RGD:1317716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737524 TMEM119 transmembrane protein 119 gene DOID:630 genetic disease ISO RGD:1602276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737536 NBEAL2 neurobeachin like 2 gene DOID:0111044 gray platelet syndrome ISO RGD:1604049 D RGD:7240710 20180130 OMIM 11737536 NBEAL2 neurobeachin like 2 gene DOID:0111044 gray platelet syndrome ISO RGD:1604049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gray platelet syndrome PMID:21765411|PMID:21765412|PMID:21765413|PMID:25741868|PMID:28492532|PMID:31064749|PMID:32581362|PMID:32693407 11737536 NBEAL2 neurobeachin like 2 gene DOID:10126 keratoconus ISO RGD:1604049 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratoconus 11737536 NBEAL2 neurobeachin like 2 gene DOID:2213 hemorrhagic disease ISO RGD:1604049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532 11737536 NBEAL2 neurobeachin like 2 gene DOID:630 genetic disease ISO RGD:1604049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11737536 NBEAL2 neurobeachin like 2 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1604049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11737595 CDCA7 cell division cycle associated 7 gene DOID:0090010 immunodeficiency-centromeric instability-facial anomalies syndrome 3 ISO RGD:1319671 D RGD:7240710 20190315 OMIM 11737595 CDCA7 cell division cycle associated 7 gene DOID:0090010 immunodeficiency-centromeric instability-facial anomalies syndrome 3 ISO RGD:1319671 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 3 PMID:15952214|PMID:1999836|PMID:21596365|PMID:25741868|PMID:26216346|PMID:28492532 11737595 CDCA7 cell division cycle associated 7 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1319671 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11737595 CDCA7 cell division cycle associated 7 gene DOID:630 genetic disease ISO RGD:1319671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11737595 CDCA7 cell division cycle associated 7 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1319671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11737612 RASAL1 RAS protein activator like 1 gene DOID:557 kidney disease ISO RGD:1323476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23665422 11737612 RASAL1 RAS protein activator like 1 gene DOID:630 genetic disease ISO RGD:1323476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737655 YEATS2 YEATS domain containing 2 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1347752 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11737655 YEATS2 YEATS domain containing 2 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1347752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11737655 YEATS2 YEATS domain containing 2 gene DOID:0111546 Currarino syndrome ISO RGD:1347752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11737655 YEATS2 YEATS domain containing 2 gene DOID:0111693 familial adult myoclonic epilepsy 4 ISO RGD:1347752 D RGD:7240710 20191225 OMIM 11737655 YEATS2 YEATS domain containing 2 gene DOID:0111693 familial adult myoclonic epilepsy 4 ISO RGD:1347752 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 4 PMID:25741868|PMID:28492532 11737655 YEATS2 YEATS domain containing 2 gene DOID:3007 breast ductal carcinoma ISO RGD:1347752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 11737655 YEATS2 YEATS domain containing 2 gene DOID:4905 pancreatic carcinoma ISO RGD:1347752 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34686948 11737655 YEATS2 YEATS domain containing 2 gene DOID:630 genetic disease ISO RGD:1347752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737655 YEATS2 YEATS domain containing 2 gene DOID:9000918 Disease Progression ISO RGD:1347752 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34686948 11737724 POGLUT2 protein O-glucosyltransferase 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1312273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:28492532 11737724 POGLUT2 protein O-glucosyltransferase 2 gene DOID:14701 propionic acidemia ISO RGD:1312273 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 11737724 POGLUT2 protein O-glucosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1312273 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737724 POGLUT2 protein O-glucosyltransferase 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1312273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11737724 POGLUT2 protein O-glucosyltransferase 2 gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:1312273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532 11737738 SH2D2A SH2 domain containing 2A gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1345635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11737738 SH2D2A SH2 domain containing 2A gene DOID:0070146 hereditary sensory neuropathy type 4 ISO RGD:1345635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV PMID:25741868 11737738 SH2D2A SH2 domain containing 2A gene DOID:0080600 COVID-19 ISO RGD:1345635 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11737738 SH2D2A SH2 domain containing 2A gene DOID:0111940 immunodeficiency 42 ISO RGD:1345635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11737738 SH2D2A SH2 domain containing 2A gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1345635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11737738 SH2D2A SH2 domain containing 2A gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1345635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11737738 SH2D2A SH2 domain containing 2A gene DOID:1540 parathyroid carcinoma ISO RGD:1345635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11737738 SH2D2A SH2 domain containing 2A gene DOID:2377 multiple sclerosis ISO RGD:1345635 D RGD:9068941 20200609 RGD DNA:repeat:promoter:-341(GA)13-33 (human) PMID:11528519|REF_RGD_ID:1358573 11737738 SH2D2A SH2 domain containing 2A gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1345635 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:18554728|REF_RGD_ID:2298871 11737738 SH2D2A SH2 domain containing 2A gene DOID:5812 MHC class II deficiency ISO RGD:1345635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11737738 SH2D2A SH2 domain containing 2A gene DOID:630 genetic disease ISO RGD:1345635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737738 SH2D2A SH2 domain containing 2A gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1345635 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:15129233|REF_RGD_ID:2298870 11737738 SH2D2A SH2 domain containing 2A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11737751 GDPD2 glycerophosphodiester phosphodiesterase domain containing 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11737751 GDPD2 glycerophosphodiester phosphodiesterase domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1346004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31690835 11737751 GDPD2 glycerophosphodiester phosphodiesterase domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1346004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11737751 GDPD2 glycerophosphodiester phosphodiesterase domain containing 2 gene DOID:1826 epilepsy ISO RGD:1346004 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11737751 GDPD2 glycerophosphodiester phosphodiesterase domain containing 2 gene DOID:630 genetic disease ISO RGD:1346004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737774 FAM131C family with sequence similarity 131 member C gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606908 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11737774 FAM131C family with sequence similarity 131 member C gene DOID:630 genetic disease ISO RGD:1606908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737784 PARP12 poly(ADP-ribose) polymerase family member 12 gene DOID:0080690 RASopathy ISO RGD:1318511 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 11737784 PARP12 poly(ADP-ribose) polymerase family member 12 gene DOID:4448 macular degeneration ISO RGD:1318511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30742112 11737784 PARP12 poly(ADP-ribose) polymerase family member 12 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11737784 PARP12 poly(ADP-ribose) polymerase family member 12 gene DOID:630 genetic disease ISO RGD:1318511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737784 PARP12 poly(ADP-ribose) polymerase family member 12 gene DOID:9001488 Human Influenza ISO RGD:1318511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11737800 MRGPRF MAS related GPR family member F gene DOID:1059 intellectual disability ISO RGD:1346995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11737800 MRGPRF MAS related GPR family member F gene DOID:630 genetic disease ISO RGD:1346995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737800 MRGPRF MAS related GPR family member F gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1346995 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11737800 MRGPRF MAS related GPR family member F gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1346995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11737815 RPLP0 ribosomal protein lateral stalk subunit P0 gene DOID:14250 Down syndrome ISO RGD:621247 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:25261685|REF_RGD_ID:11039463 11737815 RPLP0 ribosomal protein lateral stalk subunit P0 gene DOID:630 genetic disease ISO RGD:1344368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737831 ANKRD52 ankyrin repeat domain 52 gene DOID:630 genetic disease ISO RGD:1601705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737863 PACSIN3 protein kinase C and casein kinase substrate in neurons 3 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1316456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11737863 PACSIN3 protein kinase C and casein kinase substrate in neurons 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1316456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 11737863 PACSIN3 protein kinase C and casein kinase substrate in neurons 3 gene DOID:1059 intellectual disability ISO RGD:1316456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11737863 PACSIN3 protein kinase C and casein kinase substrate in neurons 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1316456 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 11737863 PACSIN3 protein kinase C and casein kinase substrate in neurons 3 gene DOID:630 genetic disease ISO RGD:1316456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737898 GTPBP4 GTP binding protein 4 gene DOID:630 genetic disease ISO RGD:732875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737898 GTPBP4 GTP binding protein 4 gene DOID:783 end stage renal disease ISO RGD:620783 D RGD:9068941 20200609 RGD PMID:11316846|REF_RGD_ID:632611 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:0050152 aspiration pneumonia ISO RGD:70069 D RGD:9068941 20200609 RGD PMID:19515386|REF_RGD_ID:4891456 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:0080011 bone resorption disease ISO RGD:735621 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21507677 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:0080599 Coronavirus infectious disease ISO RGD:70069 D RGD:9068941 20200609 RGD PMID:17804032|REF_RGD_ID:5135236 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:0080600 COVID-19 ISO RGD:735621 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:0080600 COVID-19 ISO RGD:735621 D RGD:9068941 20200618 RGD protein:increased expression:serum: PMID:32416070|REF_RGD_ID:30296676 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:0080998 acute necrotizing pancreatitis severity ISO RGD:70069 D RGD:9068941 20200609 RGD PMID:18642776|REF_RGD_ID:2307010 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:10247 pleurisy ISO RGD:70069 D RGD:9068941 20200609 RGD PMID:21549112|REF_RGD_ID:5135064 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:10247 pleurisy ISO RGD:733118 D RGD:9068941 20200609 RGD PMID:14527170|REF_RGD_ID:5135449 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:10457 Legionnaires' disease ISO RGD:733118 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:11254553|REF_RGD_ID:5135252 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:10533 viral pneumonia ISO RGD:70069 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:19671179|REF_RGD_ID:5134975 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:10763 hypertension ISO RGD:735621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:13580 cholestasis ISO RGD:735621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224055 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:1485 cystic fibrosis ISO RGD:733118 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:20818377|REF_RGD_ID:5135034 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:1485 cystic fibrosis ISO RGD:735621 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:20818377|REF_RGD_ID:5135034 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:1852 intrahepatic cholestasis ISO RGD:70069 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:18364083|REF_RGD_ID:5135233 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:2123 tularemia ISO RGD:733118 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:21277990|REF_RGD_ID:5135025 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:2841 asthma ISO RGD:733118 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:20045013|REF_RGD_ID:5129686 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:2957 pulmonary tuberculosis disease_progression ISO RGD:733118 D RGD:9068941 20200609 RGD PMID:20454613|REF_RGD_ID:5135037 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:3042 allergic contact dermatitis ISO RGD:735621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23178550 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23099361 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:735621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:37 skin disease ISO RGD:735621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:3770 pulmonary fibrosis ISO RGD:735621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16324872 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:4724 brain edema ISO RGD:70069 D RGD:9068941 20200609 RGD associated with Cerebral Hemorrhage;protein:increased expression:cerebral cortex PMID:18830379|REF_RGD_ID:5135068 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:552 pneumonia ISO RGD:70069 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:20728373|REF_RGD_ID:5134959 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:552 pneumonia ISO RGD:733118 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:18367723|REF_RGD_ID:5135235 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:6000 congestive heart failure ISO RGD:735621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:630 genetic disease ISO RGD:735621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:7148 rheumatoid arthritis ISO RGD:735621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15292528 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:824 periodontitis ISO RGD:70069 D RGD:9068941 20200609 RGD protein:increased expression:gingival epithelium PMID:20096665|REF_RGD_ID:5135002 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:8398 osteoarthritis ISO RGD:735621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15292528 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:850 lung disease ISO RGD:70069 D RGD:9068941 20200609 RGD Lung Injury PMID:19515386|REF_RGD_ID:4891456 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:850 lung disease ISO RGD:70069 D RGD:9068941 20200609 RGD Ventilator-Induced Lung Injury;protein:increased expression:respiratory system fluid/secretion PMID:21618001|REF_RGD_ID:5135023 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:850 lung disease ISO RGD:70069 D RGD:9068941 20200609 RGD associated with Pancreatitis;protein:increased expression:lung PMID:20709317|REF_RGD_ID:5134961 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:850 lung disease ISO RGD:70069 D RGD:9068941 20200609 RGD associated with Reperfusion Injury;protein:increased expression:lung PMID:20472255|REF_RGD_ID:5135036 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:850 lung disease ISO RGD:70069 D RGD:9068941 20200609 RGD associated with Sepsis;protein:increased expression:plasma, respiratory system fluid/secretion PMID:20724665|REF_RGD_ID:5134960 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:850 lung disease ISO RGD:733118 D RGD:9068941 20200609 RGD Acute Lung Injury;mRNA:increased expression:lung PMID:21301926|REF_RGD_ID:5135024 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:850 lung disease ISO RGD:733118 D RGD:9068941 20200609 RGD Acute Lung Injury;protein:increased expression:lung PMID:19794970|REF_RGD_ID:5135056 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:850 lung disease ISO RGD:733118 D RGD:9068941 20200609 RGD associated with Pneumonia, Viral;protein:increased expression:respiratory system fluid/secretion, neutrophil PMID:21743025|REF_RGD_ID:5135060 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:850 lung disease ISO RGD:733118 D RGD:9068941 20200609 RGD associated with Reperfusion Injury PMID:19558673|REF_RGD_ID:4891479 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:874 bacterial pneumonia ISO RGD:70069 D RGD:9068941 20200609 RGD PMID:11052817|REF_RGD_ID:5135234 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:874 bacterial pneumonia ISO RGD:733118 D RGD:9068941 20200609 RGD PMID:21723409|REF_RGD_ID:5135062 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:874 bacterial pneumonia severity ISO RGD:733118 D RGD:9068941 20200609 RGD PMID:19239431|REF_RGD_ID:5135065 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:735621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21509778 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:9000722 Animal Hepatitis ISO RGD:70069 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:18642776|REF_RGD_ID:2307010 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:9000998 Brain Injuries ISO RGD:70069 D RGD:9068941 20200609 RGD protein:increased expression:brain, neuron PMID:19210118|REF_RGD_ID:2306999 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:735621 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:70069 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:10498645|REF_RGD_ID:5135271 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:9001488 Human Influenza ISO RGD:733118 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:20967263|PMID:21251691|REF_RGD_ID:4891425|REF_RGD_ID:5135026 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:9001600 Wounds and Injuries ISO RGD:735621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:9001708 Hemorrhagic Shock ISO RGD:735621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:9004009 Reperfusion Injury ISO RGD:70069 D RGD:9068941 20200609 RGD PMID:10655268|REF_RGD_ID:5135270 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:9004009 Reperfusion Injury ISO RGD:70069 D RGD:9068941 20200609 RGD mRNA:increased expression:jejunum, lung PMID:19691980|REF_RGD_ID:5134974 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:9004009 Reperfusion Injury ISO RGD:70069 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:11580116|REF_RGD_ID:5135251 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:9004009 Reperfusion Injury ISO RGD:733118 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:20160675|REF_RGD_ID:5134970 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:9004009 Reperfusion Injury ISO RGD:735621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12468449 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:9004484 Sepsis ISO RGD:733118 D RGD:9068941 20200609 RGD PMID:9284162|REF_RGD_ID:5135255 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:9004610 Acute Lung Injury ISO RGD:70069 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:19106808|REF_RGD_ID:5147925 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:9004610 Acute Lung Injury ISO RGD:733118 D RGD:9068941 20200609 RGD associated with Sepsis;mRNA:increased expression:lung PMID:10069420|REF_RGD_ID:5135253 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:9004610 Acute Lung Injury ISO RGD:733118 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:15557650|REF_RGD_ID:5135247 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:9004610 Acute Lung Injury ISO RGD:735621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27525872 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:9005372 Inflammation ISO RGD:735621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23451061 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:9005930 Endotoxemia ISO RGD:733118 D RGD:9068941 20200609 RGD mRNA:increased expression:multiple organs PMID:9766630|REF_RGD_ID:5135254 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:9007021 Bordetella Infections ISO RGD:733118 D RGD:9068941 20200609 RGD associated with Influenza PMID:20065113|REF_RGD_ID:5134984 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:735621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:9007480 Hyperoxia ISO RGD:733118 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:20220550|REF_RGD_ID:4145114 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:9007730 Burns ISO RGD:70069 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18391855|REF_RGD_ID:5135231 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:70069 D RGD:9068941 20200609 RGD PMID:11342480|REF_RGD_ID:5135269 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:9007964 Arsenic Poisoning ISO RGD:735621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:9008217 Hemorrhage ISO RGD:70069 D RGD:9068941 20200609 RGD associated with Wounds, Penetrating PMID:18434445|REF_RGD_ID:5135230 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:9008939 Breast Neoplasms ISO RGD:735621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 11737922 CXCL2 C-X-C motif chemokine ligand 2 gene DOID:9446 cholangitis treatment ISO RGD:70069 D RGD:9068941 20200609 RGD PMID:17102917|REF_RGD_ID:14995925 11737930 CLCN6 chloride voltage-gated channel 6 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1313372 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11737930 CLCN6 chloride voltage-gated channel 6 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1313372 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11737930 CLCN6 chloride voltage-gated channel 6 gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:1313372 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 PMID:28492532 11737930 CLCN6 chloride voltage-gated channel 6 gene DOID:0110548 autosomal dominant nonsyndromic deafness 17 ISO RGD:1313372 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 PMID:25741868 11737930 CLCN6 chloride voltage-gated channel 6 gene DOID:0110731 neuronal ceroid lipofuscinosis 3 ISO RGD:1313373 D RGD:9068941 20220825 MouseDO OMIM:204200 11737930 CLCN6 chloride voltage-gated channel 6 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1313372 D RGD:9068941 20200609 RGD DNA:SNP: :rs3737964(human) PMID:26740945|REF_RGD_ID:14696742 11737930 CLCN6 chloride voltage-gated channel 6 gene DOID:630 genetic disease ISO RGD:1313372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11737930 CLCN6 chloride voltage-gated channel 6 gene DOID:9002301 Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities ISO RGD:1313372 D RGD:7240710 20221116 OMIM 11737930 CLCN6 chloride voltage-gated channel 6 gene DOID:9002301 Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities ISO RGD:1313372 D RGD:8554872 20221115 ClinVar ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities PMID:25741868|PMID:33217309 11737930 CLCN6 chloride voltage-gated channel 6 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1313372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 11737930 CLCN6 chloride voltage-gated channel 6 gene DOID:9008086 Developmental Disabilities ISO RGD:1313372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:33217309 11737960 SHF Src homology 2 domain containing F gene DOID:0050712 AGAT deficiency ISO RGD:1602197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 11737960 SHF Src homology 2 domain containing F gene DOID:2717 Bloom syndrome ISO RGD:1602197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11737960 SHF Src homology 2 domain containing F gene DOID:630 genetic disease ISO RGD:1602197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737960 SHF Src homology 2 domain containing F gene DOID:9256 colorectal cancer ISO RGD:1602197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11737969 MYZAP myocardial zonula adherens protein gene DOID:12930 dilated cardiomyopathy ISO RGD:5509958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy PMID:25741868 11737969 MYZAP myocardial zonula adherens protein gene DOID:2717 Bloom syndrome ISO RGD:5509958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11737969 MYZAP myocardial zonula adherens protein gene DOID:630 genetic disease ISO RGD:5509958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11737969 MYZAP myocardial zonula adherens protein gene DOID:676 juvenile rheumatoid arthritis ISO RGD:5509958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11737969 MYZAP myocardial zonula adherens protein gene DOID:9256 colorectal cancer ISO RGD:5509958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11737993 MRPS24 mitochondrial ribosomal protein S24 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11737993 MRPS24 mitochondrial ribosomal protein S24 gene DOID:630 genetic disease ISO RGD:1314387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11738001 RIN2 Ras and Rab interactor 2 gene DOID:630 genetic disease ISO RGD:1314166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11738001 RIN2 Ras and Rab interactor 2 gene DOID:9001912 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis ISO RGD:1314166 D RGD:7240710 20180130 OMIM 11738001 RIN2 Ras and Rab interactor 2 gene DOID:9001912 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis ISO RGD:1314166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly, alopecia, cutis laxa, and scoliosis | ClinVar Annotator: match by term: TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS PMID:19631308|PMID:20424861|PMID:20954239|PMID:24449201|PMID:25741868|PMID:27277385|PMID:28492532|PMID:30769224 11738034 LOC100980884 olfactory receptor 6K3 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1352543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11738034 LOC100980884 olfactory receptor 6K3 gene DOID:1540 parathyroid carcinoma ISO RGD:1352543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11738034 LOC100980884 olfactory receptor 6K3 gene DOID:630 genetic disease ISO RGD:1352543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11738034 LOC100980884 olfactory receptor 6K3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11738037 ELN elastin gene DOID:0002116 pterygium ISO RGD:736469 D RGD:9068941 20200609 RGD protein:increased expression:conjunctiva: PMID:11021831|REF_RGD_ID:9585733 11738037 ELN elastin gene DOID:0050651 atrioventricular septal defect ISO RGD:736469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect PMID:25741868|PMID:28492532 11738037 ELN elastin gene DOID:0050922 gastrointestinal carcinoma ISO RGD:736469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gastrointestinal carcinoma PMID:25741868|PMID:28492532 11738037 ELN elastin gene DOID:0060041 autism spectrum disorder ISO RGD:736469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 11738037 ELN elastin gene DOID:0060320 inguinal hernia ISO RGD:736469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inguinal hernia PMID:25741868|PMID:28492532 11738037 ELN elastin gene DOID:0070130 autosomal dominant cutis laxa 1 ISO RGD:736469 D RGD:7240710 20180418 OMIM 11738037 ELN elastin gene DOID:0070130 autosomal dominant cutis laxa 1 ISO RGD:736469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 1 PMID:10942104|PMID:11175284|PMID:12555228|PMID:15955094|PMID:16085695|PMID:16199547|PMID:17576681|PMID:18348261|PMID:19029017|PMID:19282817|PMID:19593948|PMID:19844261|PMID:20600892|PMID:21309044|PMID:23049958|PMID:23401415|PMID:24033266|PMID:25741868|PMID:26483232|PMID:28391405|PMID:28492532|PMID:29501665|PMID:29555671|PMID:29907982|PMID:31577255|PMID:31589614|PMID:5046633|PMID:7884000|PMID:8091333|PMID:9215670|PMID:9215671|PMID:9536098|PMID:9580666|PMID:9873040 11738037 ELN elastin gene DOID:0070142 autosomal dominant cutis laxa ISO RGD:736469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal dominant PMID:11175284|PMID:12555228|PMID:16894468|PMID:19029017|PMID:24033266|PMID:25741868|PMID:28492532 11738037 ELN elastin gene DOID:0080745 polymyositis ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:12643515|REF_RGD_ID:9585739 11738037 ELN elastin gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:67394 D RGD:9068941 20200609 RGD PMID:21478483|REF_RGD_ID:7207865 11738037 ELN elastin gene DOID:0111536 Buschke-Ollendorff syndrome ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:1629625|REF_RGD_ID:9585749 11738037 ELN elastin gene DOID:10325 silicosis ISO RGD:67394 D RGD:9068941 20200609 RGD protein:increased expression:lung connective tissue: PMID:7573374|REF_RGD_ID:9585691 11738037 ELN elastin gene DOID:1070 primary open angle glaucoma ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:1526740|REF_RGD_ID:9585735 11738037 ELN elastin gene DOID:10763 hypertension ISO RGD:736469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17039479 11738037 ELN elastin gene DOID:10825 essential hypertension ISO RGD:733666 D RGD:9068941 20220825 MouseDO OMIM:145500 | OMIM:603918 | OMIM:604329 | OMIM:607329 | OMIM:608742 | OMIM:610261 | OMIM:610262 | OMIM:610948 | OMIM:611014 11738037 ELN elastin gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:736469 D RGD:9068941 20200609 RGD DNA:SNPintron: rs2301995(human) PMID:22065928|REF_RGD_ID:7387224 11738037 ELN elastin gene DOID:10873 Kuhnt-Junius degeneration no_association ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:18326737|REF_RGD_ID:9585729 11738037 ELN elastin gene DOID:10923 sickle cell anemia ISO RGD:736469 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 11738037 ELN elastin gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:736469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12868502 11738037 ELN elastin gene DOID:12849 autistic disorder ISO RGD:736469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11738037 ELN elastin gene DOID:12918 thromboangiitis obliterans ISO RGD:736469 D RGD:9068941 20200609 RGD protein:increased expression:blood: PMID:8763587|REF_RGD_ID:9585753 11738037 ELN elastin gene DOID:13375 temporal arteritis ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:9101501|REF_RGD_ID:9585754 11738037 ELN elastin gene DOID:13378 Kawasaki disease ISO RGD:733666 D RGD:9068941 20200609 RGD PMID:21356372|REF_RGD_ID:9585741 11738037 ELN elastin gene DOID:13641 exfoliation syndrome ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:7777294|REF_RGD_ID:9585736 11738037 ELN elastin gene DOID:13948 bladder neck obstruction treatment ISO RGD:67394 D RGD:9068941 20200609 RGD PMID:23313213|REF_RGD_ID:7257549 11738037 ELN elastin gene DOID:14004 thoracic aortic aneurysm ISO RGD:736469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11175284|PMID:16199547|PMID:25741868|PMID:28492532 11738037 ELN elastin gene DOID:1712 aortic valve stenosis ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:11175284|REF_RGD_ID:1580327 11738037 ELN elastin gene DOID:1909 melanoma disease_progression ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:11979070|REF_RGD_ID:9585752 11738037 ELN elastin gene DOID:1909 melanoma disease_progression ISO RGD:736469 D RGD:9068941 20200609 RGD associated with Nevus, Pigmented; PMID:19032378|REF_RGD_ID:9585768 11738037 ELN elastin gene DOID:1928 Williams-Beuren syndrome ISO RGD:736469 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:10942104|PMID:25741868|PMID:28492532|PMID:31829210 11738037 ELN elastin gene DOID:1929 supravalvular aortic stenosis ISO RGD:736469 D RGD:7240710 20180130 OMIM 11738037 ELN elastin gene DOID:1929 supravalvular aortic stenosis ISO RGD:736469 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis | ClinVar Annotator: match by term: Supravalvar aortic stenosis, Eisenberg type PMID:10190324|PMID:10190538|PMID:10627943|PMID:10942104|PMID:11175284|PMID:12555228|PMID:16085695|PMID:16199547|PMID:16374472|PMID:16894468|PMID:17037986|PMID:17576681|PMID:18348261|PMID:19029017|PMID:19282817|PMID:19593948|PMID:19844261|PMID:22740173|PMID:23049958|PMID:23401415|PMID:23442826|PMID:24033266|PMID:25205790|PMID:25741868|PMID:26014430|PMID:26483232|PMID:27866049|PMID:28166811|PMID:28277377|PMID:28391405|PMID:28492532|PMID:29332214|PMID:29501665|PMID:29555671|PMID:29907982|PMID:30228022|PMID:31577255|PMID:31589614|PMID:31829210|PMID:34422331|PMID:7557968|PMID:7611295|PMID:7726172|PMID:7884000|PMID:8132745|PMID:8362925|PMID:8364568|PMID:8541862|PMID:8968740|PMID:9215670|PMID:9215671|PMID:9536098|PMID:9580666|PMID:9873040 11738037 ELN elastin gene DOID:2738 pseudoxanthoma elasticum ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:1936214|PMID:7524808|REF_RGD_ID:9585748|REF_RGD_ID:9585763 11738037 ELN elastin gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25106431 11738037 ELN elastin gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:16081882|REF_RGD_ID:1580326 11738037 ELN elastin gene DOID:3144 cutis laxa ISO RGD:736469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189163 11738037 ELN elastin gene DOID:3144 cutis laxa ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:15381555|PMID:2745999|REF_RGD_ID:1580330|REF_RGD_ID:9585732 11738037 ELN elastin gene DOID:3144 cutis laxa ISO RGD:736469 D RGD:9068941 20200609 RGD DNA:deletion mutations:cds: PMID:23442826|REF_RGD_ID:9585761 11738037 ELN elastin gene DOID:3144 cutis laxa ISO RGD:736469 D RGD:9068941 20200609 RGD DNA:deletions:exon:2012del,2039del(human) PMID:9873040|REF_RGD_ID:9585738 11738037 ELN elastin gene DOID:3144 cutis laxa ISO RGD:736469 D RGD:9068941 20200609 RGD associated with lung diseases; DNA:duplication: : PMID:15955094|REF_RGD_ID:9585740 11738037 ELN elastin gene DOID:3159 photosensitivity disease ISO RGD:736469 D RGD:9068941 20200609 RGD protein:decreased expression:skin: PMID:18753059|REF_RGD_ID:9585765 11738037 ELN elastin gene DOID:3627 aortic aneurysm ISO RGD:736469 D RGD:9068941 20200609 RGD associated with Cutis Laxa; PMID:16085695|REF_RGD_ID:9585744 11738037 ELN elastin gene DOID:3770 pulmonary fibrosis ISO RGD:736469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10761639|PMID:26817844 11738037 ELN elastin gene DOID:3827 congenital diaphragmatic hernia ISO RGD:67394 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung: PMID:12194112|REF_RGD_ID:9585688 11738037 ELN elastin gene DOID:418 systemic scleroderma ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:22563211|REF_RGD_ID:9585742 11738037 ELN elastin gene DOID:4448 macular degeneration ISO RGD:736469 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:16123400|REF_RGD_ID:9585737 11738037 ELN elastin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11738037 ELN elastin gene DOID:5082 liver cirrhosis severity ISO RGD:67394 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:22223197|REF_RGD_ID:9585666 11738037 ELN elastin gene DOID:5419 schizophrenia ISO RGD:736469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11738037 ELN elastin gene DOID:62 aortic valve disease ISO RGD:733666 D RGD:9068941 20220825 MouseDO 11738037 ELN elastin gene DOID:630 genetic disease ISO RGD:736469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10190324|PMID:10190538|PMID:10942104|PMID:11175284|PMID:17037986|PMID:17576681|PMID:19844261|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29501665|PMID:31577255|PMID:34422331|PMID:9215670|PMID:9215671|PMID:9536098 11738037 ELN elastin gene DOID:7148 rheumatoid arthritis ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:12643515|REF_RGD_ID:9585739 11738037 ELN elastin gene DOID:7693 abdominal aortic aneurysm ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:15944607|REF_RGD_ID:1580157 11738037 ELN elastin gene DOID:7693 abdominal aortic aneurysm treatment ISO RGD:67394 D RGD:9068941 20200609 RGD PMID:18585885|REF_RGD_ID:9585668 11738037 ELN elastin gene DOID:799 varicose veins ISO RGD:736469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Varicose veins PMID:25741868|PMID:28492532 11738037 ELN elastin gene DOID:8445 intestinal volvulus ISO RGD:736469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11738037 ELN elastin gene DOID:8505 dermatitis herpetiformis ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:8256113|REF_RGD_ID:9585750 11738037 ELN elastin gene DOID:8893 psoriasis treatment ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:6893335|REF_RGD_ID:9585764 11738037 ELN elastin gene DOID:8947 diabetic retinopathy ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:11707314|REF_RGD_ID:9585734 11738037 ELN elastin gene DOID:9001330 Urinary Incontinence, Stress ISO RGD:67394 D RGD:9068941 20200609 RGD PMID:19878076|REF_RGD_ID:7207866 11738037 ELN elastin gene DOID:9001831 Lichen Sclerosus et Atrophicus ISO RGD:736469 D RGD:9068941 20200609 RGD protein:altered expression:vulva: PMID:11683283|REF_RGD_ID:9585756 11738037 ELN elastin gene DOID:9002377 Supravalvar Aortic Stenosis, Eisenberg Type ISO RGD:736469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis, Eisenberg type PMID:11175284|PMID:16199547|PMID:25741868|PMID:28492532 11738037 ELN elastin gene DOID:9003133 Hypertelorism ISO RGD:736469 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:11175284|PMID:16199547|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29555671|PMID:29907982|PMID:31589614 11738037 ELN elastin gene DOID:9003386 Sunburn ISO RGD:736469 D RGD:9068941 20200609 RGD mRNA:increased expression:skin: PMID:8040608|REF_RGD_ID:9585745 11738037 ELN elastin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11738037 ELN elastin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:67394 D RGD:9068941 20200609 RGD mRNA:increased expression:bladder: PMID:18279932|REF_RGD_ID:9585725 11738037 ELN elastin gene DOID:9006392 Anetoderma ISO RGD:736469 D RGD:9068941 20200609 RGD protein:decreased expression:skin: PMID:6736354|REF_RGD_ID:9585766 11738037 ELN elastin gene DOID:9007096 Stroke ISO RGD:736469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:28492532 11738037 ELN elastin gene DOID:9007102 Myocardial Ischemia ISO RGD:736469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11738037 ELN elastin gene DOID:9008419 Volvulus Of Midgut ISO RGD:736469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11738037 ELN elastin gene DOID:9008537 Polypoidal Choroidal Vasculopathy no_association ISO RGD:736469 D RGD:9068941 20200609 RGD DNA:SNP: :rs2301995(human) PMID:21391811|REF_RGD_ID:9585730 11738037 ELN elastin gene DOID:9008537 Polypoidal Choroidal Vasculopathy susceptibility ISO RGD:736469 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :rs2301995(human) PMID:18326737|REF_RGD_ID:9585729 11738037 ELN elastin gene DOID:9009073 Diaphragmatic Hernia ISO RGD:736469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10359170 11738037 ELN elastin gene DOID:9074 systemic lupus erythematosus ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:12643515|REF_RGD_ID:9585739 11738037 ELN elastin gene DOID:9675 pulmonary emphysema ISO RGD:736469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25106431 11738037 ELN elastin gene DOID:9810 polyarteritis nodosa ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:12643515|REF_RGD_ID:9585739 11738070 RASA2 RAS p21 protein activator 2 gene DOID:1682 congenital heart disease ISO RGD:735538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:28492532 11738070 RASA2 RAS p21 protein activator 2 gene DOID:1909 melanoma ISO RGD:735538 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26214590|PMID:26502337 11738070 RASA2 RAS p21 protein activator 2 gene DOID:3490 Noonan syndrome ISO RGD:735538 D RGD:9068941 20221028 RGD DNA:missense mutations:exon:multiple (human) PMID:25049390|REF_RGD_ID:11096563 11738070 RASA2 RAS p21 protein activator 2 gene DOID:630 genetic disease ISO RGD:735538 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11738097 UCMA upper zone of growth plate and cartilage matrix associated gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1350104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11738097 UCMA upper zone of growth plate and cartilage matrix associated gene DOID:12849 autistic disorder ISO RGD:1350104 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism 11738097 UCMA upper zone of growth plate and cartilage matrix associated gene DOID:630 genetic disease ISO RGD:1350104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11738107 REP15 RAB15 effector protein gene DOID:630 genetic disease ISO RGD:2306721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11738112 SIMC1 SUMO interacting motifs containing 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1604161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11738112 SIMC1 SUMO interacting motifs containing 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1604161 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11738112 SIMC1 SUMO interacting motifs containing 1 gene DOID:630 genetic disease ISO RGD:1604161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11738131 RNF32 ring finger protein 32 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1317975 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:22354285|PMID:22683912|PMID:23370340|PMID:24095820|PMID:28284480|PMID:28492532|PMID:28588853|PMID:29983323|PMID:29992659|PMID:31334757|PMID:32677110 11738131 RNF32 ring finger protein 32 gene DOID:12849 autistic disorder ISO RGD:1317975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11738131 RNF32 ring finger protein 32 gene DOID:630 genetic disease ISO RGD:1317975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11738131 RNF32 ring finger protein 32 gene DOID:9003769 Patterson Stevenson Syndrome ISO RGD:1317975 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome PMID:18178630 11738164 HIC2 HIC ZBTB transcriptional repressor 2 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1313307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:25741868 11738164 HIC2 HIC ZBTB transcriptional repressor 2 gene DOID:11198 DiGeorge syndrome ISO RGD:1313307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 11738164 HIC2 HIC ZBTB transcriptional repressor 2 gene DOID:11372 megacolon ISO RGD:1313307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11738164 HIC2 HIC ZBTB transcriptional repressor 2 gene DOID:12849 autistic disorder ISO RGD:1313307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11738164 HIC2 HIC ZBTB transcriptional repressor 2 gene DOID:630 genetic disease ISO RGD:1313307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11738170 IL21 interleukin 21 gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:21204603|PMID:29370719|REF_RGD_ID:127285376|REF_RGD_ID:127285545 11738170 IL21 interleukin 21 gene DOID:0081153 common variable immunodeficiency 11 ISO RGD:1316553 D RGD:7240710 20180130 OMIM 11738170 IL21 interleukin 21 gene DOID:0081153 common variable immunodeficiency 11 ISO RGD:1316553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency 11 PMID:24033266|PMID:24746753|PMID:25741868|PMID:28492532 11738170 IL21 interleukin 21 gene DOID:10608 celiac disease ISO RGD:1316553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17558408 11738170 IL21 interleukin 21 gene DOID:10608 celiac disease susceptibility ISO RGD:1316553 D RGD:9068941 20210625 RGD protein:increased expression:blood serum (human) PMID:22077623|REF_RGD_ID:127285362 11738170 IL21 interleukin 21 gene DOID:11168 anogenital venereal wart ISO RGD:1316553 D RGD:9068941 20210625 RGD protein:decreased expression:blood serum (human) PMID:31414711|REF_RGD_ID:127285371 11738170 IL21 interleukin 21 gene DOID:12177 common variable immunodeficiency ISO RGD:1316553 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IL21 DEFICIENCY PMID:24033266|PMID:24746753|PMID:25741868|PMID:28492532 11738170 IL21 interleukin 21 gene DOID:12206 dengue hemorrhagic fever severity ISO RGD:1316553 D RGD:9068941 20210625 RGD protein:increased expression:blood serum (human) PMID:24858204|REF_RGD_ID:127285368 11738170 IL21 interleukin 21 gene DOID:12365 malaria exacerbates ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:25763578|REF_RGD_ID:127285358 11738170 IL21 interleukin 21 gene DOID:1909 melanoma treatment ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:22477528|REF_RGD_ID:127285553 11738170 IL21 interleukin 21 gene DOID:2043 hepatitis B ISO RGD:1316554 D RGD:9068941 20210625 RGD mRNA:increased expression:spleen (C57BL/6N mouse) PMID:29544722|REF_RGD_ID:127285375 11738170 IL21 interleukin 21 gene DOID:2048 autoimmune hepatitis exacerbates ISO RGD:1316553 D RGD:9068941 20210625 RGD protein:increased expression:blood serum, peripheral blood mononuclear cell (human) PMID:27386263|REF_RGD_ID:127285554 11738170 IL21 interleukin 21 gene DOID:234 colon adenocarcinoma treatment ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:17695518|REF_RGD_ID:127285540 11738170 IL21 interleukin 21 gene DOID:2841 asthma ISO RGD:1316553 D RGD:9068941 20200609 RGD DNA:SNP:exon:5250C>T (human) PMID:18802358|REF_RGD_ID:5147396 11738170 IL21 interleukin 21 gene DOID:321 tropical spastic paraparesis ISO RGD:1316553 D RGD:9068941 20210625 RGD protein:decreased expression:blood serum (human) PMID:28378248|REF_RGD_ID:127285561 11738170 IL21 interleukin 21 gene DOID:3388 periodontal disease ISO RGD:1307384 D RGD:9068941 20200609 RGD mRNA:increased expression:lymph node, B cell PMID:20618701|REF_RGD_ID:5024938 11738170 IL21 interleukin 21 gene DOID:3944 Arenaviridae infectious disease ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:21423809|REF_RGD_ID:127285543 11738170 IL21 interleukin 21 gene DOID:4270 encephalitozoonosis ISO RGD:1316554 D RGD:9068941 20210625 RGD protein:increased expression:CD4-positive helper T cell (mouse) PMID:26597007|REF_RGD_ID:11086452 11738170 IL21 interleukin 21 gene DOID:4483 rhinitis ISO RGD:1316554 D RGD:9068941 20200609 RGD PMID:17982108|REF_RGD_ID:5147397 11738170 IL21 interleukin 21 gene DOID:5082 liver cirrhosis exacerbates ISO RGD:1316553 D RGD:9068941 20210625 RGD associated with Chronic Hepatitis B;mRNA:increased expression: liver (human) PMID:24611989|REF_RGD_ID:127285546 11738170 IL21 interleukin 21 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1316553 D RGD:9068941 20210625 RGD associated with hepatitis B;protein:decreased expression:blood serum (human) PMID:22948268|REF_RGD_ID:127285366 11738170 IL21 interleukin 21 gene DOID:630 genetic disease ISO RGD:1316553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11738170 IL21 interleukin 21 gene DOID:684 hepatocellular carcinoma ISO RGD:1316553 D RGD:9068941 20210625 RGD associated with hepatitis B;DNA:SNPS, haplotype:(rs13143866, rs2221903, rs907715) (human) PMID:25892873|REF_RGD_ID:127285359 11738170 IL21 interleukin 21 gene DOID:8566 herpes simplex ISO RGD:1316554 D RGD:9068941 20210625 RGD mRNA:increased expression:spleen (mouse) PMID:16406655|REF_RGD_ID:127285372 11738170 IL21 interleukin 21 gene DOID:8566 herpes simplex treatment ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:19233474|REF_RGD_ID:127285367 11738170 IL21 interleukin 21 gene DOID:8704 genital herpes treatment ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:24358128|REF_RGD_ID:127285365 11738170 IL21 interleukin 21 gene DOID:8869 neuromyelitis optica ISO RGD:1316553 D RGD:9068941 20210625 RGD protein:increased expression:cerebrospinal fluid (human) PMID:23041403|REF_RGD_ID:127285589 11738170 IL21 interleukin 21 gene DOID:9000238 Acute-On-Chronic Liver Failure ameliorates ISO RGD:1316553 D RGD:9068941 20210625 RGD associated with Chronic Hepatitis B;protein:decreased expression:blood serum (human) PMID:21692955|REF_RGD_ID:127285541 11738170 IL21 interleukin 21 gene DOID:9000371 influenza A ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:25251568|REF_RGD_ID:127285548 11738170 IL21 interleukin 21 gene DOID:9000469 Viral Myocarditis treatment ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:25889760|REF_RGD_ID:127285552 11738170 IL21 interleukin 21 gene DOID:9001953 Pneumovirus Infections ISO RGD:1316554 D RGD:9068941 20210625 RGD mRNA:increased expression:lung (mouse) PMID:22238461|REF_RGD_ID:6892925 11738170 IL21 interleukin 21 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1307384 D RGD:9068941 20200609 RGD PMID:18997868|REF_RGD_ID:5147399 11738170 IL21 interleukin 21 gene DOID:9004017 Chronic Hepatitis C ameliorates ISO RGD:1316553 D RGD:9068941 20210625 RGD protein:increased expression:liver, blood, CD4-positive, alpha-beta T cell (human) PMID:24170093|REF_RGD_ID:127285373 11738170 IL21 interleukin 21 gene DOID:9004283 Transplant Rejection ISO RGD:1316553 D RGD:9068941 20210625 RGD associated with hepatitis B;DNA:SNPs, haplotype:intron, CDS:1472G>T, 5250C>T (rs2055979, rs4833837) (human) PMID:23656167|REF_RGD_ID:127285550 11738170 IL21 interleukin 21 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1316553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 11738170 IL21 interleukin 21 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11738170 IL21 interleukin 21 gene DOID:9005106 Animal Toxoplasmosis ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:23667536|REF_RGD_ID:127285360 11738170 IL21 interleukin 21 gene DOID:9007204 Dysbiosis treatment ISO RGD:1307384 D RGD:9068941 20200903 RGD PMID:32227764|REF_RGD_ID:38549571 11738170 IL21 interleukin 21 gene DOID:9008114 Helicobacter Infections ISO RGD:1316553 D RGD:9068941 20210625 RGD mRNA, protein:increased expression:mucosa of stomach (human) PMID:17442980|REF_RGD_ID:127285542 11738170 IL21 interleukin 21 gene DOID:9008114 Helicobacter Infections ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:31383743|REF_RGD_ID:127285544 11738170 IL21 interleukin 21 gene DOID:9008163 Chronic Hepatitis B exacerbates ISO RGD:1316553 D RGD:9068941 20210618 RGD protein:decreased expression:blood serum (human) PMID:28500636|REF_RGD_ID:127285361 11738170 IL21 interleukin 21 gene DOID:9008163 Chronic Hepatitis B exacerbates ISO RGD:1316553 D RGD:9068941 20210625 RGD protein:increased expression:blood serum (human) PMID:25243706|REF_RGD_ID:127285378 11738170 IL21 interleukin 21 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1316553 D RGD:9068941 20210625 RGD DNA:SNP:intron: (rs2221903) (human) PMID:23354321|REF_RGD_ID:127285353 11738170 IL21 interleukin 21 gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1316553 D RGD:9068941 20210625 RGD DNA:SNPs:introns: (rs2221903, rs907715) (human) PMID:29879024|REF_RGD_ID:127285539 11738170 IL21 interleukin 21 gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1316553 D RGD:9068941 20210625 RGD associated with non-alcoholic fatty liver disease PMID:26840345|REF_RGD_ID:127285549 11738170 IL21 interleukin 21 gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:30260401|PMID:31281514|PMID:32373234|REF_RGD_ID:127285364|REF_RGD_ID:127285369|REF_RGD_ID:127285551 11738170 IL21 interleukin 21 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316553 D RGD:9068941 20210618 RGD protein:decreased expression:colorectum (human) PMID:28483840|REF_RGD_ID:127285377 11738170 IL21 interleukin 21 gene DOID:9065 leishmaniasis exacerbates ISO RGD:1316554 D RGD:9068941 20210625 RGD protein:increased expression:popliteal lymph node (mouse) PMID:22429963|REF_RGD_ID:127285547 11738170 IL21 interleukin 21 gene DOID:9074 systemic lupus erythematosus ISO RGD:1316553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17911475 11738170 IL21 interleukin 21 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1316553 D RGD:9068941 20210618 RGD DNA:SNP:intron: (rs907715) (human) PMID:23236436|REF_RGD_ID:127285363 11738170 IL21 interleukin 21 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1316554 D RGD:9068941 20210625 RGD associated with Arenaviridae infectious disease PMID:27300756|REF_RGD_ID:127285370 11738170 IL21 interleukin 21 gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:28711285|REF_RGD_ID:127285590 11738179 AMPD3 adenosine monophosphate deaminase 3 gene DOID:2661 myoepithelioma ISO RGD:732010 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11738179 AMPD3 adenosine monophosphate deaminase 3 gene DOID:630 genetic disease ISO RGD:732010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11738179 AMPD3 adenosine monophosphate deaminase 3 gene DOID:9006043 Erythrocyte Amp Deaminase Deficiency ISO RGD:732010 D RGD:7240710 20180130 OMIM 11738179 AMPD3 adenosine monophosphate deaminase 3 gene DOID:9006043 Erythrocyte Amp Deaminase Deficiency ISO RGD:732010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Erythrocyte AMP deaminase deficiency PMID:25158045|PMID:25741868|PMID:28492532|PMID:7881427|PMID:8004104 11738207 LRRTM3 leucine rich repeat transmembrane neuronal 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1312552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20678249 11738207 LRRTM3 leucine rich repeat transmembrane neuronal 3 gene DOID:0110084 arrhythmogenic right ventricular dysplasia 13 ISO RGD:1312552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 13 PMID:28492532 11738207 LRRTM3 leucine rich repeat transmembrane neuronal 3 gene DOID:630 genetic disease ISO RGD:1312552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11738214 SDS serine dehydratase gene DOID:630 genetic disease ISO RGD:734053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11738214 SDS serine dehydratase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734053 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11738226 CCDC22 coiled-coil domain containing 22 gene DOID:0060565 Ritscher-Schinzel syndrome ISO RGD:1352329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11738226 CCDC22 coiled-coil domain containing 22 gene DOID:0060571 Ritscher-Schinzel syndrome 1 ISO RGD:1352329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 PMID:19377476|PMID:21826058|PMID:24916641|PMID:31971710 11738226 CCDC22 coiled-coil domain containing 22 gene DOID:0060572 Ritscher-Schinzel syndrome 2 ISO RGD:1352329 D RGD:7240710 20180130 OMIM 11738226 CCDC22 coiled-coil domain containing 22 gene DOID:0060572 Ritscher-Schinzel syndrome 2 ISO RGD:1352329 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 2 PMID:19377476|PMID:21826058|PMID:23563313|PMID:24916641|PMID:25644381|PMID:25741868|PMID:28492532|PMID:31971710 11738226 CCDC22 coiled-coil domain containing 22 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11738226 CCDC22 coiled-coil domain containing 22 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1352329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 11738226 CCDC22 coiled-coil domain containing 22 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1352329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:19471859|PMID:28492532|PMID:30443250 11738226 CCDC22 coiled-coil domain containing 22 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1352329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11738226 CCDC22 coiled-coil domain containing 22 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1352329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11738226 CCDC22 coiled-coil domain containing 22 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1352329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 11738226 CCDC22 coiled-coil domain containing 22 gene DOID:1059 intellectual disability ISO RGD:1352329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11738226 CCDC22 coiled-coil domain containing 22 gene DOID:12849 autistic disorder ISO RGD:1352329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11738226 CCDC22 coiled-coil domain containing 22 gene DOID:630 genetic disease ISO RGD:1352329 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21826058|PMID:23563313|PMID:24916641|PMID:25741868|PMID:28492532 11738249 RAB39B RAB39B, member RAS oncogene family gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1354105 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11738249 RAB39B RAB39B, member RAS oncogene family gene DOID:0050476 Barth syndrome ISO RGD:1354105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11738249 RAB39B RAB39B, member RAS oncogene family gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1354105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability 11738249 RAB39B RAB39B, member RAS oncogene family gene DOID:0050800 creatine transporter deficiency ISO RGD:1354105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11738249 RAB39B RAB39B, member RAS oncogene family gene DOID:0060309 syndromic X-linked intellectual disability ISO RGD:1623199 D RGD:9068941 20220825 MouseDO 11738249 RAB39B RAB39B, member RAS oncogene family gene DOID:0111781 Waisman syndrome ISO RGD:1354105 D RGD:7240710 20180130 OMIM 11738249 RAB39B RAB39B, member RAS oncogene family gene DOID:0111781 Waisman syndrome ISO RGD:1354105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Basal ganglia disorder with mental retardation | ClinVar Annotator: match by term: Early-onset parkinsonism-intellectual disability syndrome PMID:1674730|PMID:25434005|PMID:25741868|PMID:26399558|PMID:26467025|PMID:4025396 11738249 RAB39B RAB39B, member RAS oncogene family gene DOID:0112003 immunodeficiency 33 ISO RGD:1354105 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11738249 RAB39B RAB39B, member RAS oncogene family gene DOID:0112059 non-syndromic X-linked intellectual disability 72 ISO RGD:1354105 D RGD:7240710 20180130 OMIM 11738249 RAB39B RAB39B, member RAS oncogene family gene DOID:0112059 non-syndromic X-linked intellectual disability 72 ISO RGD:1354105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 72 PMID:11050621|PMID:19377476|PMID:20159109|PMID:25741868|PMID:26467025|PMID:26739247|PMID:28492532 11738249 RAB39B RAB39B, member RAS oncogene family gene DOID:10588 adrenoleukodystrophy ISO RGD:1354105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11738249 RAB39B RAB39B, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1354105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21076407 11738249 RAB39B RAB39B, member RAS oncogene family gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1354105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11738249 RAB39B RAB39B, member RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:1354105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11738249 RAB39B RAB39B, member RAS oncogene family gene DOID:13628 favism ISO RGD:1354105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11738249 RAB39B RAB39B, member RAS oncogene family gene DOID:1826 epilepsy ISO RGD:1354105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20159109 11738249 RAB39B RAB39B, member RAS oncogene family gene DOID:2729 dyskeratosis congenita ISO RGD:1354105 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11738249 RAB39B RAB39B, member RAS oncogene family gene DOID:607 paraplegia ISO RGD:1354105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11738249 RAB39B RAB39B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1354105 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19377476|PMID:25741868|PMID:26739247|PMID:28492532 11738249 RAB39B RAB39B, member RAS oncogene family gene DOID:9002720 Splenomegaly ISO RGD:1354105 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11738249 RAB39B RAB39B, member RAS oncogene family gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11738249 RAB39B RAB39B, member RAS oncogene family gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1354105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20159109 11738249 RAB39B RAB39B, member RAS oncogene family gene DOID:9006820 Parkinson's Disease, X-Linked Dominant ISO RGD:1354105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, X-linked dominant PMID:26399558 11738249 RAB39B RAB39B, member RAS oncogene family gene DOID:9008582 Developmental Disease ISO RGD:1354105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11738249 RAB39B RAB39B, member RAS oncogene family gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1354105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20159109 11738255 GPR107 G protein-coupled receptor 107 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1314180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11738255 GPR107 G protein-coupled receptor 107 gene DOID:630 genetic disease ISO RGD:1314180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11738286 WTAP WT1 associated protein gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1321461 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 11738286 WTAP WT1 associated protein gene DOID:630 genetic disease ISO RGD:1321461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11738305 SERTM2 serine rich and transmembrane domain containing 2 gene DOID:12849 autistic disorder ISO RGD:7249247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11738305 SERTM2 serine rich and transmembrane domain containing 2 gene DOID:5419 schizophrenia ISO RGD:7249247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11738310 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0050777 Joubert syndrome ISO RGD:1348587 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:11179005|PMID:12595504|PMID:16199547|PMID:16311594|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:23033313|PMID:24476948|PMID:24884629|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26477546|PMID:27081566|PMID:28492532|PMID:9536098 11738310 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0050777 Joubert syndrome ISO RGD:1348587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:11179005|PMID:11349230|PMID:12595504|PMID:16199547|PMID:16311594|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:19800048|PMID:22353940|PMID:23033313|PMID:24476948|PMID:24884629|PMID:25674159|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26477546|PMID:27081566|PMID:28289185|PMID:28371265|PMID:28492532|PMID:30401917|PMID:35112477|PMID:9536098 11738310 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0060316 orofaciodigital syndrome I ISO RGD:1348587 D RGD:7240710 20180130 OMIM 11738310 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0060316 orofaciodigital syndrome I ISO RGD:1348587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oral-Facial-Digital Syndrome Type I | ClinVar Annotator: match by term: Oral-facial-digital syndrome type 1 | ClinVar Annotator: match by term: Orofaciodigital syndrome I PMID:11179005|PMID:11950863|PMID:12595504|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:23033313|PMID:24884629|PMID:25741868|PMID:26275793|PMID:26467025|PMID:27081566|PMID:28492532|PMID:28973083|PMID:9198060|PMID:9482645|PMID:9536098 11738310 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0060373 orofaciodigital syndrome III ISO RGD:1348587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome III 11738310 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0080205 CAKUT ISO RGD:1348587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:25741868|PMID:28492532 11738310 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0080342 Simpson-Golabi-Behmel syndrome type 2 ISO RGD:1348587 D RGD:7240710 20180130 OMIM 11738310 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0080342 Simpson-Golabi-Behmel syndrome type 2 ISO RGD:1348587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 2 PMID:11179005|PMID:12595504|PMID:16783569|PMID:19800048|PMID:22353940|PMID:23033313|PMID:25741868|PMID:28492532|PMID:30401917|PMID:33847015|PMID:35112477 11738310 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0080362 X-linked spondyloepiphyseal dysplasia tarda ISO RGD:1348587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda, X-linked PMID:11326333|PMID:11349230|PMID:15221797|PMID:17576681|PMID:22563562|PMID:25741868|PMID:26252088|PMID:28492532|PMID:9536098 11738310 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0080918 polymicrogyria ISO RGD:1348587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:25741868 11738310 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0110412 retinitis pigmentosa 23 ISO RGD:1348587 D RGD:7240710 20180130 OMIM 11738310 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0110412 retinitis pigmentosa 23 ISO RGD:1348587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 23 PMID:10892847|PMID:22619378|PMID:25741868|PMID:28492532|PMID:35112477 11738310 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1348587 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:10999831|PMID:25741868|PMID:9990351 11738310 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0110980 Joubert syndrome 1 ISO RGD:1348587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:11179005|PMID:12595504|PMID:16199547|PMID:16311594|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:23033313|PMID:24476948|PMID:24884629|PMID:25741868|PMID:26092869|PMID:26467025|PMID:27081566|PMID:28289185|PMID:28492532|PMID:9536098 11738310 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0110980 Joubert syndrome 1 ISO RGD:1348587 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16783569|PMID:18546297|PMID:25741868|PMID:27081566|PMID:28492532 11738310 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0110981 Joubert syndrome 10 ISO RGD:1348587 D RGD:7240710 20180130 OMIM 11738310 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0110981 Joubert syndrome 10 ISO RGD:1348587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome 10 PMID:16783569|PMID:18546297|PMID:19800048|PMID:22353940|PMID:23033313|PMID:24884629|PMID:25741868|PMID:26092869|PMID:27081566|PMID:28492532|PMID:30401917|PMID:35112477 11738310 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0111589 COACH syndrome ISO RGD:1348587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COACH syndrome PMID:16783569|PMID:18546297|PMID:27081566|PMID:28492532 11738310 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0111783 otopalatodigital syndrome type 1 ISO RGD:1348587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16783569 11738310 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0112284 spondyloepiphyseal dysplasia tarda ISO RGD:1348587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda PMID:10431248|PMID:10999831|PMID:11326333|PMID:11424925|PMID:12919139|PMID:15221797|PMID:17576681|PMID:18414213|PMID:22563562|PMID:23656395|PMID:25741868|PMID:26252088|PMID:28492532|PMID:9536098|PMID:9990351 11738310 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:10584 retinitis pigmentosa ISO RGD:1348587 D RGD:9068941 20200609 RGD DNA, mRNA:frameshift mutation, splice variant:IVS9+706A>G (human) PMID:22619378|REF_RGD_ID:11535961 11738310 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:1059 intellectual disability ISO RGD:1348587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11738310 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:12849 autistic disorder ISO RGD:1348587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11738310 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:630 genetic disease ISO RGD:1348587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11326333|PMID:15221797|PMID:17576681|PMID:22563562|PMID:25741868|PMID:26252088|PMID:28492532|PMID:9536098 11738310 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:65 connective tissue disease ISO RGD:1348587 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:11424925|PMID:25741868 11738310 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:8466 retinal degeneration ISO RGD:1562231 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:retina PMID:27196396|REF_RGD_ID:11535964 11738310 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:8501 fundus dystrophy ISO RGD:1348587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 11738310 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1348587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 PMID:25741868 11738310 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11738310 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:9007284 Precocious Puberty ISO RGD:1348587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral precocious puberty 11738310 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:1348587 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:11179005|PMID:12595504|PMID:18414213|PMID:25741868|PMID:26467025|PMID:26477546|PMID:28492532|PMID:31373179 11738342 GRM8 glutamate metabotropic receptor 8 gene DOID:0080855 Parkinsonism ISO RGD:619858 D RGD:9068941 20200611 RGD PMID:22546615|REF_RGD_ID:6771180 11738342 GRM8 glutamate metabotropic receptor 8 gene DOID:10283 prostate cancer ISO RGD:1350769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11738342 GRM8 glutamate metabotropic receptor 8 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1350769 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:22138692 11738342 GRM8 glutamate metabotropic receptor 8 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1350769 D RGD:9068941 20200611 RGD DNA:deletion: : PMID:22138692|REF_RGD_ID:6484664 11738342 GRM8 glutamate metabotropic receptor 8 gene DOID:11832 visual epilepsy ISO RGD:619858 D RGD:9068941 20200611 RGD PMID:17434465|REF_RGD_ID:6771182 11738342 GRM8 glutamate metabotropic receptor 8 gene DOID:12849 autistic disorder ISO RGD:1350769 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:12676915 11738342 GRM8 glutamate metabotropic receptor 8 gene DOID:12849 autistic disorder susceptibility ISO RGD:1350769 D RGD:9068941 20200806 RGD DNA:SNPs, haplotypes:intron 8, exon 10, 3'utr: (rs2237731, rs712723, rs1800656) (human) PMID:12676915|REF_RGD_ID:1358645 11738342 GRM8 glutamate metabotropic receptor 8 gene DOID:1824 status epilepticus ISO RGD:731666 D RGD:9068941 20200611 RGD PMID:17430409|REF_RGD_ID:6771183 11738342 GRM8 glutamate metabotropic receptor 8 gene DOID:1826 epilepsy ISO RGD:619858 D RGD:9068941 20200611 RGD PMID:17940877|REF_RGD_ID:6484665 11738342 GRM8 glutamate metabotropic receptor 8 gene DOID:2030 anxiety disorder ISO RGD:1350769 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:17434465 11738342 GRM8 glutamate metabotropic receptor 8 gene DOID:2377 multiple sclerosis ISO RGD:1350769 D RGD:9068941 20200611 RGD protein:increased expression:astrocyte, microglia, macrophage PMID:15589052|REF_RGD_ID:6771187 11738342 GRM8 glutamate metabotropic receptor 8 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11738342 GRM8 glutamate metabotropic receptor 8 gene DOID:5409 lung small cell carcinoma ISO RGD:1350769 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 11738342 GRM8 glutamate metabotropic receptor 8 gene DOID:5419 schizophrenia ISO RGD:1350769 D RGD:9068941 20200611 RGD PMID:15211621|REF_RGD_ID:6484666 11738342 GRM8 glutamate metabotropic receptor 8 gene DOID:630 genetic disease ISO RGD:1350769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11738342 GRM8 glutamate metabotropic receptor 8 gene DOID:9000998 Brain Injuries ISO RGD:1350769 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 11738342 GRM8 glutamate metabotropic receptor 8 gene DOID:9001048 Nociceptive Pain ISO RGD:731666 D RGD:9068941 20200611 RGD PMID:17113112|REF_RGD_ID:6771186 11738342 GRM8 glutamate metabotropic receptor 8 gene DOID:9002211 Hyperalgesia ISO RGD:731666 D RGD:9068941 20200611 RGD PMID:17113112|REF_RGD_ID:6771186 11738342 GRM8 glutamate metabotropic receptor 8 gene DOID:9007402 Gliosis ISO RGD:1350769 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:11226630 11738350 NUDT21 nudix hydrolase 21 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1313996 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11738350 NUDT21 nudix hydrolase 21 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1313996 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11738350 NUDT21 nudix hydrolase 21 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1313996 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11738350 NUDT21 nudix hydrolase 21 gene DOID:3910 lung adenocarcinoma ISO RGD:1313996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11738350 NUDT21 nudix hydrolase 21 gene DOID:630 genetic disease ISO RGD:1313996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11738350 NUDT21 nudix hydrolase 21 gene DOID:9006205 Animal Disease Models ISO RGD:1313996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11738361 WNT3 Wnt family member 3 gene DOID:1612 breast cancer ISO RGD:1344120 D RGD:9068941 20200609 RGD mRNA:increased expression:primary breast tumor PMID:11604997|REF_RGD_ID:2298802 11738361 WNT3 Wnt family member 3 gene DOID:2871 endometrial carcinoma ISO RGD:1344120 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:vs normal endometrium PMID:9099960|REF_RGD_ID:2291875 11738361 WNT3 Wnt family member 3 gene DOID:9000545 Ectromelia ISO RGD:1344120 D RGD:9068941 20200609 RGD tetra-amelia, OMIM:273395 PMID:14872406|REF_RGD_ID:1599852 11738361 WNT3 Wnt family member 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1344120 D RGD:9068941 20200609 RGD in vitro transformation of transfected C57MG mammary epithelial cell line PMID:9419423|REF_RGD_ID:2298848 11738370 FETUB fetuin B gene DOID:0060575 3MC syndrome 1 ISO RGD:1348659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 11738370 FETUB fetuin B gene DOID:630 genetic disease ISO RGD:1348659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11738370 FETUB fetuin B gene DOID:9003281 Spontaneous Abortions ISO RGD:1348659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11738381 RBFA ribosome binding factor A gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1323615 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11738381 RBFA ribosome binding factor A gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1323615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 11738381 RBFA ribosome binding factor A gene DOID:630 genetic disease ISO RGD:1323615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11738381 RBFA ribosome binding factor A gene DOID:6420 pulmonary valve stenosis ISO RGD:1323615 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 11738381 RBFA ribosome binding factor A gene DOID:8445 intestinal volvulus ISO RGD:1323615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11738381 RBFA ribosome binding factor A gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1323615 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 11738381 RBFA ribosome binding factor A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11738381 RBFA ribosome binding factor A gene DOID:9008419 Volvulus Of Midgut ISO RGD:1323615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11738399 PLEKHA4 pleckstrin homology domain containing A4 gene DOID:10283 prostate cancer ISO RGD:1346745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11738399 PLEKHA4 pleckstrin homology domain containing A4 gene DOID:630 genetic disease ISO RGD:1346745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11738430 RPS6KC1 ribosomal protein S6 kinase C1 gene DOID:10283 prostate cancer ISO RGD:1315275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11738430 RPS6KC1 ribosomal protein S6 kinase C1 gene DOID:1540 parathyroid carcinoma ISO RGD:1315275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11738430 RPS6KC1 ribosomal protein S6 kinase C1 gene DOID:630 genetic disease ISO RGD:1315275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11738430 RPS6KC1 ribosomal protein S6 kinase C1 gene DOID:9008086 Developmental Disabilities ISO RGD:1315275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11738430 RPS6KC1 ribosomal protein S6 kinase C1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11738460 PRRX2 paired related homeobox 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1322947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11738460 PRRX2 paired related homeobox 2 gene DOID:630 genetic disease ISO RGD:1322947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11738510 SYNJ2 synaptojanin 2 gene DOID:630 genetic disease ISO RGD:69494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11738510 SYNJ2 synaptojanin 2 gene DOID:9008939 Breast Neoplasms ISO RGD:69494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 11738592 ASCC2 activating signal cointegrator 1 complex subunit 2 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1347917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 11738592 ASCC2 activating signal cointegrator 1 complex subunit 2 gene DOID:630 genetic disease ISO RGD:1347917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11738592 ASCC2 activating signal cointegrator 1 complex subunit 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1347917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:21876083|PMID:24713400|PMID:28492532 11738634 LOC100969011 collagen alpha-1(I) chain gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:151669315 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 11738646 FANCC FA complementation group C gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:735813 D RGD:9068941 20200609 RGD PMID:17409780|REF_RGD_ID:11049143 11738646 FANCC FA complementation group C gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:735813 D RGD:9068941 20200609 RGD DNA:haplotype::rs4647416(human) PMID:21670957|REF_RGD_ID:11045795 11738646 FANCC FA complementation group C gene DOID:0111087 Fanconi anemia complementation group C ISO RGD:735813 D RGD:7240710 20180130 OMIM 11738646 FANCC FA complementation group C gene DOID:0111087 Fanconi anemia complementation group C ISO RGD:735813 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group C PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10431244|PMID:10666230|PMID:10994546|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19278965|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:23934222|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32496904|PMID:32546565|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 11738646 FANCC FA complementation group C gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:735813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:08128956|PMID:08348157|PMID:08844212|PMID:09616183|PMID:12670332|PMID:14695169|PMID:14726700|PMID:15695377|PMID:17924555|PMID:22995991|PMID:23028338|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26689913|PMID:26740942|PMID:27153395|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29360161|PMID:29643063|PMID:29719599|PMID:30031030|PMID:30306255|PMID:31784482|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:33471991|PMID:34117267|PMID:8128956|PMID:8348157|PMID:8799375|PMID:8844212|PMID:8882868|PMID:9521584|PMID:9616183 11738646 FANCC FA complementation group C gene DOID:0111140 IGSF1 deficiency syndrome ISO RGD:735813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement 11738646 FANCC FA complementation group C gene DOID:1059 intellectual disability ISO RGD:735813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11738646 FANCC FA complementation group C gene DOID:12450 pancytopenia ISO RGD:10566 D RGD:9068941 20200609 RGD Low dose of mitomycin C 0.3mg/kg PMID:9531583|REF_RGD_ID:11045793 11738646 FANCC FA complementation group C gene DOID:12450 pancytopenia ISO RGD:735813 D RGD:9068941 20200609 RGD PMID:10627482|REF_RGD_ID:11045794 11738646 FANCC FA complementation group C gene DOID:13636 Fanconi anemia ISO RGD:735813 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31874108|PMID:32427313|PMID:32496904|PMID:32566746|PMID:32659497|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33471991|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 11738646 FANCC FA complementation group C gene DOID:13636 Fanconi anemia ISO RGD:735813 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33471991|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 11738646 FANCC FA complementation group C gene DOID:13636 Fanconi anemia ISO RGD:735813 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33471991|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 11738646 FANCC FA complementation group C gene DOID:13636 Fanconi anemia ISO RGD:735813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 11738646 FANCC FA complementation group C gene DOID:13636 Fanconi anemia ISO RGD:735813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:10994546|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:23934222|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 11738646 FANCC FA complementation group C gene DOID:13636 Fanconi anemia onset ISO RGD:735813 D RGD:9068941 20200609 RGD DNA:deletion: :322delG (human) PMID:11110674|REF_RGD_ID:11344914 11738646 FANCC FA complementation group C gene DOID:14115 toxic shock syndrome ISO RGD:10566 D RGD:9068941 20200609 RGD PMID:17404312|REF_RGD_ID:11045879 11738646 FANCC FA complementation group C gene DOID:1520 colon carcinoma ISO RGD:735813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:25058500|PMID:27165003 11738646 FANCC FA complementation group C gene DOID:1612 breast cancer ISO RGD:735813 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:08128956|PMID:08348157|PMID:08844212|PMID:09616183|PMID:10666230|PMID:11427142|PMID:12670332|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:17576681|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20509860|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26778106|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28873162|PMID:29360161|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30630526|PMID:31721781|PMID:31874108|PMID:32546565|PMID:33471991|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8128956|PMID:8348157|PMID:8639804|PMID:8799375|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9521584|PMID:9536098|PMID:9616183 11738646 FANCC FA complementation group C gene DOID:1612 breast cancer ISO RGD:735813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:08128956|PMID:08348157|PMID:08844212|PMID:09616183|PMID:10666230|PMID:11427142|PMID:12670332|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:16199547|PMID:17576681|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20509860|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26778106|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28873162|PMID:29360161|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30630526|PMID:31721781|PMID:31874108|PMID:32546565|PMID:32659497|PMID:32885271|PMID:33471991|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8128956|PMID:8348157|PMID:8639804|PMID:8799375|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9521584|PMID:9536098|PMID:9616183 11738646 FANCC FA complementation group C gene DOID:1793 pancreatic cancer ISO RGD:735813 D RGD:9068941 20200609 RGD PMID:16243825|REF_RGD_ID:2317238 11738646 FANCC FA complementation group C gene DOID:1793 pancreatic cancer ISO RGD:735813 D RGD:9068941 20200609 RGD DNA:nonsense mutation (human) PMID:15695377|REF_RGD_ID:2317239 11738646 FANCC FA complementation group C gene DOID:2018 hyperinsulinism ISO RGD:735813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22482891 11738646 FANCC FA complementation group C gene DOID:2394 ovarian cancer ISO RGD:735813 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532|PMID:32885271 11738646 FANCC FA complementation group C gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:735813 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:17703323|PMID:17924555|PMID:22382802|PMID:28492532 11738646 FANCC FA complementation group C gene DOID:5426 primary ovarian insufficiency ISO RGD:735813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11738646 FANCC FA complementation group C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532|PMID:32566746 11738646 FANCC FA complementation group C gene DOID:630 genetic disease ISO RGD:735813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11738646 FANCC FA complementation group C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735813 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10666230|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:25801821|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30676620|PMID:30967997|PMID:31589614|PMID:31784482|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33471991|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8639804|PMID:8799375|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9521584|PMID:9536098|PMID:9616183 11738646 FANCC FA complementation group C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735813 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33471991|PMID:34008892|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 11738646 FANCC FA complementation group C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 11738646 FANCC FA complementation group C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 11738646 FANCC FA complementation group C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735813 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 11738646 FANCC FA complementation group C gene DOID:9007456 Female Infertility ISO RGD:10566 D RGD:9068941 20200609 RGD PMID:8704201|REF_RGD_ID:1300317 11738646 FANCC FA complementation group C gene DOID:9007692 Insulin Resistance ISO RGD:10566 D RGD:9068941 20200609 RGD PMID:22482891|REF_RGD_ID:11046266 11738646 FANCC FA complementation group C gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:735813 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.S26F (human) PMID:12670332|REF_RGD_ID:11046259 11738646 FANCC FA complementation group C gene DOID:9970 obesity ISO RGD:10566 D RGD:9068941 20200609 RGD PMID:22482891|REF_RGD_ID:11046266 11738687 LOC100970847 HLA class II histocompatibility antigen, DO beta chain gene DOID:0050553 JMP syndrome ISO RGD:1346079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11738698 EVA1B eva-1 homolog B gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1602695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11738698 EVA1B eva-1 homolog B gene DOID:630 genetic disease ISO RGD:1602695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11738704 ZBTB6 zinc finger and BTB domain containing 6 gene DOID:630 genetic disease ISO RGD:1314374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11738716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:0050475 Weill-Marchesani syndrome ISO RGD:68549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome PMID:17576681|PMID:19656777|PMID:22924778|PMID:23218701|PMID:23378721|PMID:23401661|PMID:25741868|PMID:26425313|PMID:27293371|PMID:28492532|PMID:9536098 11738716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:0050593 primary congenital glaucoma ISO RGD:68549 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary congenital glaucoma PMID:25741868 11738716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:0060305 megalocornea ISO RGD:68549 D RGD:9068941 20230309 RGD associated with glaucoma;DNA:missense mutation:CDS:p.C1438Y (human) PMID:22025892|REF_RGD_ID:156451371 11738716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:0111150 autosomal dominant isolated ectopia lentis 1 ISO RGD:68549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant PMID:23218701|PMID:23401661|PMID:28492532 11738716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:1059 intellectual disability ISO RGD:68549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11738716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:1068 juvenile glaucoma ISO RGD:68549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma of childhood PMID:24033266 11738716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:1070 primary open angle glaucoma ISO RGD:68549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:23401661|PMID:25741868|PMID:26425313|PMID:28492532 11738716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:11211 buphthalmos ISO RGD:68549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A PMID:19656777 11738716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:12930 dilated cardiomyopathy treatment ISO RGD:68380 D RGD:9068941 20230309 RGD PMID:31512380|REF_RGD_ID:156431214 11738716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:13641 exfoliation syndrome ISO RGD:68549 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pseudoexfoliation glaucoma PMID:23401661|PMID:25741868|PMID:28492532 11738716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:14199 posterior dislocation of lens ISO RGD:68550 D RGD:9068941 20230309 RGD PMID:24908666|REF_RGD_ID:156451375 11738716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:14323 Marfan syndrome ISO RGD:68549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome 11738716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:1686 glaucoma ISO RGD:68549 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19361779|PMID:27149523 11738716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:6000 congestive heart failure ISO RGD:68549 D RGD:9068941 20230309 RGD associated with dyspnea;protein:increased expression:plasma (human) PMID:22587491|REF_RGD_ID:156451376 11738716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:6000 congestive heart failure ISO RGD:68549 D RGD:9068941 20230323 RGD mRNA:increased expression:heart (human) PMID:32478206|REF_RGD_ID:213230162 11738716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:630 genetic disease ISO RGD:68549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11738716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:9000669 Ventricular Dysfunction, Right ISO RGD:68380 D RGD:9068941 20230309 RGD associated with Pulmonary Arterial Hypertension;mRNA:increased expression:heart right ventricle (rat) PMID:30213070|REF_RGD_ID:156451373 11738716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:9001251 Microspherophakia ISO RGD:68549 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microspherophakia PMID:19361779|PMID:20179738|PMID:20617341|PMID:21081970|PMID:22025892|PMID:25741868|PMID:27409795|PMID:28492532 11738716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:9002998 Weill-Marchesani Syndrome 1 ISO RGD:68549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 1 PMID:22539340 11738716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:9003139 Cardiac Fibrosis ISO RGD:68550 D RGD:9068941 20230309 RGD mRNA:increased expression:heart (mouse) PMID:29950403|REF_RGD_ID:156451654 11738716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:9003580 Primary Congenital Glaucoma 3, D ISO RGD:68549 D RGD:7240710 20180130 OMIM 11738716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:9003580 Primary Congenital Glaucoma 3, D ISO RGD:68549 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Glaucoma 3, primary congenital, D PMID:17576681|PMID:19361779|PMID:19656777|PMID:20179738|PMID:21081970|PMID:22025892|PMID:22924778|PMID:23218701|PMID:23378721|PMID:23401661|PMID:25741868|PMID:26425313|PMID:27293371|PMID:27409795|PMID:28492532|PMID:9536098 11738716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:9003936 Cardiomegaly ISO RGD:68550 D RGD:9068941 20230323 RGD mRNA:increased expression:heart (mouse) PMID:29510080|REF_RGD_ID:213230163 11738716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:9004201 Ectopia Lentis ISO RGD:68550 D RGD:9068941 20230309 RGD PMID:33039488|REF_RGD_ID:156431213 11738716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:9006438 Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma ISO RGD:68549 D RGD:7240710 20180130 OMIM 11738716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:68549 D RGD:9068941 20230309 RGD mRNA:increased expression:myocardium (human) PMID:17343875|REF_RGD_ID:156451374 11738716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:9007147 Glaucoma 3, Primary Infantile, B ISO RGD:68549 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glaucoma 3, primary infantile, B PMID:16199547|PMID:17576681|PMID:19361779|PMID:22025892|PMID:23401661|PMID:25741868|PMID:27409795|PMID:28492532|PMID:9536098 11738716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:68550 D RGD:9068941 20230323 RGD mRNA:increased expression:heart (mouse) PMID:31364721|REF_RGD_ID:213230159 11738716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:9007248 Weill-Marchesani Syndrome 3 ISO RGD:68549 D RGD:7240710 20180130 OMIM 11738716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:9007248 Weill-Marchesani Syndrome 3 ISO RGD:68549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 3 PMID:22539340|PMID:23401661|PMID:25741868|PMID:28492532 11738756 TOMM20 translocase of outer mitochondrial membrane 20 gene DOID:1540 parathyroid carcinoma ISO RGD:735635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11738756 TOMM20 translocase of outer mitochondrial membrane 20 gene DOID:630 genetic disease ISO RGD:735635 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11738756 TOMM20 translocase of outer mitochondrial membrane 20 gene DOID:767 muscular atrophy ISO RGD:708467 D RGD:9068941 20200609 RGD PMID:20943961|REF_RGD_ID:13463487 11738756 TOMM20 translocase of outer mitochondrial membrane 20 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11738770 PITPNB phosphatidylinositol transfer protein beta gene DOID:630 genetic disease ISO RGD:736239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11738896 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:0111590 Cohen syndrome ISO RGD:736756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 11738896 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:10763 hypertension treatment ISO RGD:3980 D RGD:9068941 20200609 RGD PMID:22984478|REF_RGD_ID:9587480 11738896 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:11832 visual epilepsy ISO RGD:3980 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:16981892|REF_RGD_ID:1625714 11738896 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:1825 childhood absence epilepsy ISO RGD:3980 D RGD:9068941 20200609 RGD protein:increased expression:parietal lobe PMID:21310218|REF_RGD_ID:9587483 11738896 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:305 carcinoma ISO RGD:736756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11738896 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:5419 schizophrenia ISO RGD:11498 D RGD:9068941 20220825 MouseDO OMIM:181500 11738896 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:684 hepatocellular carcinoma severity ISO RGD:736756 D RGD:9068941 20200609 RGD PMID:27811373|REF_RGD_ID:14700875 11738896 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11738896 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11738896 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:736756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16849584 11738896 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11738896 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:9007993 Dehydration ISO RGD:3980 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:supraoptic nucleus, pituitary PMID:17927670|REF_RGD_ID:9587478 11738917 COL6A3 collagen type VI alpha 3 chain gene DOID:0050557 congenital muscular dystrophy ISO RGD:1318631 D RGD:9068941 20220825 MouseDO OMIM:254100 11738917 COL6A3 collagen type VI alpha 3 chain gene DOID:0050558 Ullrich congenital muscular dystrophy ISO RGD:1318630 D RGD:7240710 20180130 OMIM 11738917 COL6A3 collagen type VI alpha 3 chain gene DOID:0050558 Ullrich congenital muscular dystrophy ISO RGD:1318630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1, autosomal dominant PMID:11992252|PMID:15563506|PMID:15689448|PMID:16199547|PMID:17576681|PMID:17886299|PMID:18366090|PMID:18378883|PMID:18414213|PMID:19344236|PMID:19564581|PMID:20301676|PMID:20976770|PMID:20981092|PMID:21280092|PMID:23040494|PMID:23572247|PMID:24038877|PMID:24271325|PMID:24518369|PMID:25326635|PMID:25635128|PMID:25741868|PMID:26004199|PMID:26436962|PMID:26467025|PMID:28492532|PMID:29419890|PMID:29970176|PMID:30564623|PMID:32528171|PMID:34167565|PMID:34720847|PMID:7695699|PMID:8218237|PMID:9536098 11738917 COL6A3 collagen type VI alpha 3 chain gene DOID:0050663 Bethlem myopathy ISO RGD:1318630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, benign congenital PMID:15563506|PMID:15689448|PMID:16935502|PMID:17576681|PMID:17785673|PMID:17886299|PMID:18378883|PMID:18414213|PMID:18825676|PMID:20976770|PMID:20981092|PMID:22995991|PMID:23040494|PMID:23572247|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24332716|PMID:25214167|PMID:25224718|PMID:25741868|PMID:26004199|PMID:26247046|PMID:26284228|PMID:26467025|PMID:26872670|PMID:27708273|PMID:27854218|PMID:28492532|PMID:28562329|PMID:28688748|PMID:29970176|PMID:30487145|PMID:30564623|PMID:31731261|PMID:33964895|PMID:9536098 11738917 COL6A3 collagen type VI alpha 3 chain gene DOID:0050663 Bethlem myopathy ISO RGD:1318630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, benign congenital PMID:15563506|PMID:15689448|PMID:16935502|PMID:17576681|PMID:17785673|PMID:17886299|PMID:18378883|PMID:18414213|PMID:18825676|PMID:20976770|PMID:20981092|PMID:22995991|PMID:23040494|PMID:23572247|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24332716|PMID:25214167|PMID:25224718|PMID:25741868|PMID:26004199|PMID:26247046|PMID:26284228|PMID:26467025|PMID:26872670|PMID:27708273|PMID:27854218|PMID:28492532|PMID:28562329|PMID:28688748|PMID:29970176|PMID:30564623|PMID:30687093|PMID:31230720|PMID:31265121|PMID:32403337|PMID:32448721|PMID:32528171|PMID:33596003|PMID:33749658|PMID:33964895|PMID:9536098 11738917 COL6A3 collagen type VI alpha 3 chain gene DOID:0090050 dystonia 27 ISO RGD:1318630 D RGD:7240710 20180130 OMIM 11738917 COL6A3 collagen type VI alpha 3 chain gene DOID:0090050 dystonia 27 ISO RGD:1318630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal hereditary motor neuropathy | ClinVar Annotator: match by term: Dystonia 27 PMID:15689448|PMID:17576681|PMID:18378883|PMID:18414213|PMID:20981092|PMID:23572247|PMID:24038877|PMID:25741868|PMID:26004199|PMID:26467025|PMID:26872670|PMID:28492532|PMID:30564623|PMID:30687093|PMID:31265121|PMID:33964895|PMID:9536098 11738917 COL6A3 collagen type VI alpha 3 chain gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1318630 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11738917 COL6A3 collagen type VI alpha 3 chain gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1318630 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11738917 COL6A3 collagen type VI alpha 3 chain gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1318630 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11738917 COL6A3 collagen type VI alpha 3 chain gene DOID:1059 intellectual disability ISO RGD:1318630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11738917 COL6A3 collagen type VI alpha 3 chain gene DOID:2154 nephroblastoma ISO RGD:1318630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 11738917 COL6A3 collagen type VI alpha 3 chain gene DOID:3652 Leigh disease ISO RGD:1318630 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leigh syndrome 11738917 COL6A3 collagen type VI alpha 3 chain gene DOID:423 myopathy ISO RGD:1318630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy PMID:18414213|PMID:25741868|PMID:28492532 11738917 COL6A3 collagen type VI alpha 3 chain gene DOID:543 dystonia ISO RGD:1318630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11738917 COL6A3 collagen type VI alpha 3 chain gene DOID:630 genetic disease ISO RGD:1318630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15689448|PMID:16199547|PMID:18366090|PMID:19344236|PMID:20976770|PMID:21280092|PMID:24038877|PMID:25741868|PMID:26467025|PMID:27854213|PMID:28492532|PMID:28688748|PMID:7695699|PMID:8218237|PMID:9724608 11738917 COL6A3 collagen type VI alpha 3 chain gene DOID:767 muscular atrophy ISO RGD:1318630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular atrophy PMID:25741868|PMID:28492532 11738917 COL6A3 collagen type VI alpha 3 chain gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1318630 D RGD:7240710 20190327 OMIM 11738917 COL6A3 collagen type VI alpha 3 chain gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1318630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:11992252|PMID:15563506|PMID:15689448|PMID:16199547|PMID:16935502|PMID:17576681|PMID:17785673|PMID:17886299|PMID:18366090|PMID:18378883|PMID:18414213|PMID:18825676|PMID:19344236|PMID:19564581|PMID:20301676|PMID:20976770|PMID:20981092|PMID:21280092|PMID:22995991|PMID:23040494|PMID:23175733|PMID:23572247|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24271325|PMID:24314752|PMID:24332716|PMID:24518369|PMID:24907562|PMID:25211533|PMID:25214167|PMID:25224718|PMID:25326635|PMID:25380242|PMID:25535305|PMID:25635128|PMID:25741868|PMID:25987458|PMID:26004199|PMID:26247046|PMID:26284228|PMID:26436962|PMID:26467025|PMID:26752647|PMID:26872670|PMID:27447704|PMID:27708273|PMID:27854213|PMID:27854218|PMID:28492532|PMID:28562329|PMID:28660205|PMID:28688748|PMID:29172004|PMID:29406609|PMID:29419890|PMID:29894794|PMID:29970176|PMID:30564623|PMID:30687093|PMID:31127727|PMID:31230720|PMID:31265121|PMID:32037012|PMID:32065942|PMID:32403337|PMID:32448721|PMID:32528171|PMID:33596003|PMID:33749658|PMID:33964895|PMID:34167565|PMID:7695699|PMID:8218237|PMID:9536084|PMID:9536098|PMID:9724608 11738917 COL6A3 collagen type VI alpha 3 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:1318630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11738917 COL6A3 collagen type VI alpha 3 chain gene DOID:9004866 Ataxia ISO RGD:1318630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensory ataxia PMID:25741868|PMID:28492532 11738917 COL6A3 collagen type VI alpha 3 chain gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1318630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11738917 COL6A3 collagen type VI alpha 3 chain gene DOID:9007913 Collagen VI-related Myopathy ISO RGD:1318630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:15563506|PMID:15689448|PMID:16935502|PMID:17576681|PMID:17785673|PMID:17886299|PMID:18378883|PMID:18414213|PMID:18825676|PMID:20976770|PMID:20981092|PMID:22995991|PMID:23040494|PMID:23572247|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24332716|PMID:25214167|PMID:25224718|PMID:25741868|PMID:26004199|PMID:26247046|PMID:26284228|PMID:26467025|PMID:26872670|PMID:27708273|PMID:27854218|PMID:28492532|PMID:28562329|PMID:28688748|PMID:29970176|PMID:30564623|PMID:30687093|PMID:31265121|PMID:32403337|PMID:32448721|PMID:32528171|PMID:33596003|PMID:33749658|PMID:33964895|PMID:9536098 11738917 COL6A3 collagen type VI alpha 3 chain gene DOID:9884 muscular dystrophy ISO RGD:1318630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:17576681|PMID:25741868|PMID:28492532|PMID:30564623|PMID:9536098 11738917 COL6A3 collagen type VI alpha 3 chain gene DOID:9884 muscular dystrophy susceptibility ISO RGD:1318630 D RGD:9068941 20200609 RGD Bethlem myopathy, OMIM:158810;DNA:missense mutation PMID:9536084|REF_RGD_ID:1600940 11738971 PIK3AP1 phosphoinositide-3-kinase adaptor protein 1 gene DOID:0050562 West syndrome ISO RGD:1317115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile spasms PMID:17576681|PMID:25262651|PMID:25741868|PMID:28492532|PMID:9536098 11738971 PIK3AP1 phosphoinositide-3-kinase adaptor protein 1 gene DOID:630 genetic disease ISO RGD:1317115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11738992 SINHCAF SIN3-HDAC complex associated factor gene DOID:4905 pancreatic carcinoma ISO RGD:1347576 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35213078 11739008 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11739008 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:732948 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 11739008 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:732948 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 11739008 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:0111996 immunodeficiency 51 ISO RGD:732948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11739008 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:1059 intellectual disability ISO RGD:732948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11739008 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:11198 DiGeorge syndrome ISO RGD:732948 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 11739008 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:11372 megacolon ISO RGD:732948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11739008 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:732948 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 11739008 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:12849 autistic disorder ISO RGD:732948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11739008 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:1682 congenital heart disease ISO RGD:732948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10024240 11739008 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:1826 epilepsy ISO RGD:732948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11739008 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:5419 schizophrenia ISO RGD:732948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11739008 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:612 primary immunodeficiency disease ISO RGD:732948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11739008 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11739008 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:9007661 Dwarfism ISO RGD:732948 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11739008 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:732948 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11739008 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10024240 11739028 VPS4A vacuolar protein sorting 4 homolog A gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:732193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11739028 VPS4A vacuolar protein sorting 4 homolog A gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:732193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic congenital hemolytic and dyserythropoietic anemia PMID:25741868|PMID:33186543|PMID:33186545|PMID:33460484 11739028 VPS4A vacuolar protein sorting 4 homolog A gene DOID:630 genetic disease ISO RGD:732193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11739028 VPS4A vacuolar protein sorting 4 homolog A gene DOID:9002030 CIMDAG SYNDROME ISO RGD:732193 D RGD:7240710 20210519 OMIM 11739028 VPS4A vacuolar protein sorting 4 homolog A gene DOID:9002030 CIMDAG SYNDROME ISO RGD:732193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CEREBELLAR HYPOPLASIA, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, CONGENITAL MICROCEPHALY, DYSTONIA, DYSERYTHROPOIETIC ANEMIA, AND GROWTH RETARDATION PMID:25741868|PMID:33186543|PMID:33186545|PMID:33460484 11739052 BBS9 Bardet-Biedl syndrome 9 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1603660 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:16380913|PMID:20177705|PMID:23757202|PMID:25741868|PMID:28492532 11739052 BBS9 Bardet-Biedl syndrome 9 gene DOID:0110131 Bardet-Biedl syndrome 9 ISO RGD:1603660 D RGD:7240710 20180130 OMIM 11739052 BBS9 Bardet-Biedl syndrome 9 gene DOID:0110131 Bardet-Biedl syndrome 9 ISO RGD:1603660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 9 | ClinVar Annotator: match by term: Retinal vascular dystrophy PMID:16380913|PMID:17576681|PMID:20177705|PMID:21209035|PMID:22353939|PMID:23160099|PMID:23757202|PMID:24746959|PMID:24849935|PMID:25741868|PMID:26518167|PMID:27486776|PMID:27708425|PMID:28492532|PMID:29096039|PMID:29970488|PMID:30614526|PMID:30718709|PMID:30773290|PMID:31054281|PMID:31488071|PMID:31888296|PMID:9536098 11739052 BBS9 Bardet-Biedl syndrome 9 gene DOID:10584 retinitis pigmentosa ISO RGD:1603660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:30718709 11739052 BBS9 Bardet-Biedl syndrome 9 gene DOID:1059 intellectual disability ISO RGD:1603660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11739052 BBS9 Bardet-Biedl syndrome 9 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1603660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16199547|PMID:16380913|PMID:17576681|PMID:20177705|PMID:21209035|PMID:23160099|PMID:23757202|PMID:24746959|PMID:24849935|PMID:25640679|PMID:25741868|PMID:26355662|PMID:27708425|PMID:28492532|PMID:29096039|PMID:29970488|PMID:30614526|PMID:30718709|PMID:31054281|PMID:31488071|PMID:31888296|PMID:32686083|PMID:33138063|PMID:33616283|PMID:33964006|PMID:9536098 11739052 BBS9 Bardet-Biedl syndrome 9 gene DOID:2340 craniosynostosis ISO RGD:1603660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23160099 11739052 BBS9 Bardet-Biedl syndrome 9 gene DOID:2340 craniosynostosis susceptibility ISO RGD:1603660 D RGD:9068941 20200609 RGD DNA:SNPs:introns:rs10262453,rs17724206,rs1884302(human) PMID:23160099|REF_RGD_ID:9684995 11739052 BBS9 Bardet-Biedl syndrome 9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11739052 BBS9 Bardet-Biedl syndrome 9 gene DOID:5419 schizophrenia ISO RGD:1603660 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11739052 BBS9 Bardet-Biedl syndrome 9 gene DOID:5426 primary ovarian insufficiency susceptibility ISO RGD:1603660 D RGD:9068941 20200609 RGD DNA:SNPs,haplotypes: : PMID:18349106|REF_RGD_ID:9684994 11739052 BBS9 Bardet-Biedl syndrome 9 gene DOID:630 genetic disease ISO RGD:1603660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31888296 11739052 BBS9 Bardet-Biedl syndrome 9 gene DOID:8501 fundus dystrophy ISO RGD:1603660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16380913|PMID:20177705|PMID:28492532 11739052 BBS9 Bardet-Biedl syndrome 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11739052 BBS9 Bardet-Biedl syndrome 9 gene DOID:9008296 Eye Abnormalities ISO RGD:1603660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:16380913|PMID:20177705|PMID:24746959|PMID:25741868|PMID:27708425|PMID:28492532 11739093 PRPF3 pre-mRNA processing factor 3 gene DOID:0110356 retinitis pigmentosa 18 ISO RGD:1321525 D RGD:7240710 20180130 OMIM 11739093 PRPF3 pre-mRNA processing factor 3 gene DOID:0110356 retinitis pigmentosa 18 ISO RGD:1321525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 18 PMID:11773002|PMID:15085354|PMID:16799052|PMID:17517693|PMID:17932117|PMID:18412284|PMID:20309403|PMID:20811066|PMID:21378395|PMID:25741868|PMID:28492532|PMID:28559085|PMID:33576794 11739093 PRPF3 pre-mRNA processing factor 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1321525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11739093 PRPF3 pre-mRNA processing factor 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1321525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11739093 PRPF3 pre-mRNA processing factor 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1321525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11739093 PRPF3 pre-mRNA processing factor 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1321525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11773002|PMID:15085354|PMID:17932117|PMID:20309403|PMID:20811066|PMID:25741868|PMID:28492532|PMID:28559085 11739093 PRPF3 pre-mRNA processing factor 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1321525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11739093 PRPF3 pre-mRNA processing factor 3 gene DOID:5812 MHC class II deficiency ISO RGD:1321525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11739093 PRPF3 pre-mRNA processing factor 3 gene DOID:630 genetic disease ISO RGD:1321525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11739093 PRPF3 pre-mRNA processing factor 3 gene DOID:8501 fundus dystrophy ISO RGD:1321525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11773002|PMID:15085354|PMID:17932117|PMID:20309403|PMID:20811066|PMID:25741868|PMID:27886254|PMID:28492532|PMID:28559085 11739093 PRPF3 pre-mRNA processing factor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11739113 BBS5 Bardet-Biedl syndrome 5 gene DOID:0050795 cone dystrophy ISO RGD:1321789 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:15137946|PMID:17576681|PMID:20498079|PMID:25741868|PMID:28041643|PMID:28492532|PMID:31506453|PMID:9536098 11739113 BBS5 Bardet-Biedl syndrome 5 gene DOID:0110127 Bardet-Biedl syndrome 5 ISO RGD:1321789 D RGD:7240710 20180130 OMIM 11739113 BBS5 Bardet-Biedl syndrome 5 gene DOID:0110127 Bardet-Biedl syndrome 5 ISO RGD:1321789 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 5 PMID:11342895|PMID:15137946|PMID:16199547|PMID:16877420|PMID:17576681|PMID:18203199|PMID:19367329|PMID:21052717|PMID:21209035|PMID:22626039|PMID:25741868|PMID:26325687|PMID:27708425|PMID:28041643|PMID:28492532|PMID:29806606|PMID:30718709|PMID:31760295|PMID:32451492|PMID:32641690|PMID:33572860|PMID:9536098 11739113 BBS5 Bardet-Biedl syndrome 5 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1321789 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:15137946|PMID:16199547|PMID:16877420|PMID:17576681|PMID:18203199|PMID:19367329|PMID:20498079|PMID:21052717|PMID:21209035|PMID:21344540|PMID:22626039|PMID:22773737|PMID:24400638|PMID:24559376|PMID:25741868|PMID:26325687|PMID:26766544|PMID:27708425|PMID:28041643|PMID:28492532|PMID:29806606|PMID:30614526|PMID:30718709|PMID:31506453|PMID:31760295|PMID:32451492|PMID:32641690|PMID:33572860|PMID:9536098 11739113 BBS5 Bardet-Biedl syndrome 5 gene DOID:630 genetic disease ISO RGD:1321789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11739113 BBS5 Bardet-Biedl syndrome 5 gene DOID:8501 fundus dystrophy ISO RGD:1321789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15137946|PMID:16199547|PMID:16877420|PMID:21209035|PMID:25741868|PMID:26325687|PMID:27708425|PMID:28041643|PMID:28492532|PMID:29806606 11739132 PIWIL4 piwi like RNA-mediated gene silencing 4 gene DOID:1059 intellectual disability ISO RGD:1322245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11739132 PIWIL4 piwi like RNA-mediated gene silencing 4 gene DOID:12704 ataxia telangiectasia ISO RGD:1322245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11739132 PIWIL4 piwi like RNA-mediated gene silencing 4 gene DOID:14228 oligospermia ISO RGD:1322245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20940137 11739132 PIWIL4 piwi like RNA-mediated gene silencing 4 gene DOID:630 genetic disease ISO RGD:1322245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11739155 RPRD1A regulation of nuclear pre-mRNA domain containing 1A gene DOID:1059 intellectual disability ISO RGD:1605654 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11739155 RPRD1A regulation of nuclear pre-mRNA domain containing 1A gene DOID:630 genetic disease ISO RGD:1605654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11739172 UNC13B unc-13 homolog B gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:734027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11739172 UNC13B unc-13 homolog B gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:734027 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11739172 UNC13B unc-13 homolog B gene DOID:0080600 COVID-19 ISO RGD:734027 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11739172 UNC13B unc-13 homolog B gene DOID:0080942 anauxetic dysplasia ISO RGD:734027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11739172 UNC13B unc-13 homolog B gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:734027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11739172 UNC13B unc-13 homolog B gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:734027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11739172 UNC13B unc-13 homolog B gene DOID:630 genetic disease ISO RGD:734027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11739172 UNC13B unc-13 homolog B gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:734027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11739172 UNC13B unc-13 homolog B gene DOID:9562 primary ciliary dyskinesia ISO RGD:734027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11739172 UNC13B unc-13 homolog B gene DOID:9870 galactosemia ISO RGD:734027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11739229 LOC100984204 gap junction gamma-3 protein gene DOID:10003 sensorineural hearing loss ISO RGD:1553447 D RGD:9068941 20200609 RGD PMID:16481432|REF_RGD_ID:1578421 11739229 LOC100984204 gap junction gamma-3 protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11739229 LOC100984204 gap junction gamma-3 protein gene DOID:630 genetic disease ISO RGD:1353703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11739234 CEBPA CCAAT enhancer binding protein alpha gene DOID:0060071 pre-malignant neoplasm ISO RGD:69121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21785164 11739234 CEBPA CCAAT enhancer binding protein alpha gene DOID:0060318 acute promyelocytic leukemia ISO RGD:69121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16788101|PMID:26285909 11739234 CEBPA CCAAT enhancer binding protein alpha gene DOID:0080600 COVID-19 ISO RGD:69121 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11739234 CEBPA CCAAT enhancer binding protein alpha gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:69121 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11739234 CEBPA CCAAT enhancer binding protein alpha gene DOID:10591 pre-eclampsia ISO RGD:69121 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34398343 11739234 CEBPA CCAAT enhancer binding protein alpha gene DOID:10652 Alzheimer's disease ISO RGD:10325 D RGD:9068941 20200609 RGD protein:decreased expression:forebrain, hindbrain (mouse) PMID:21492414|REF_RGD_ID:10401190 11739234 CEBPA CCAAT enhancer binding protein alpha gene DOID:10652 Alzheimer's disease ISO RGD:69121 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (human) PMID:14769913|REF_RGD_ID:10401224 11739234 CEBPA CCAAT enhancer binding protein alpha gene DOID:12858 Huntington's disease ISO RGD:10325 D RGD:9068941 20200609 RGD protein:altered localization:liver (mouse) PMID:17213233|REF_RGD_ID:10401191 11739234 CEBPA CCAAT enhancer binding protein alpha gene DOID:12858 Huntington's disease treatment ISO RGD:10325 D RGD:9068941 20200609 RGD PMID:21651979|REF_RGD_ID:6484269 11739234 CEBPA CCAAT enhancer binding protein alpha gene DOID:13533 osteopetrosis ISO RGD:10325 D RGD:9068941 20200609 RGD PMID:23580622|REF_RGD_ID:10401187 11739234 CEBPA CCAAT enhancer binding protein alpha gene DOID:1749 squamous cell carcinoma ISO RGD:69121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17510391|PMID:21346772 11739234 CEBPA CCAAT enhancer binding protein alpha gene DOID:224 transient cerebral ischemia ISO RGD:2326 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hippocampal pyramidal cell layer (rat) PMID:9795105|REF_RGD_ID:10401192 11739234 CEBPA CCAAT enhancer binding protein alpha gene DOID:3770 pulmonary fibrosis ISO RGD:69121 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29078374 11739234 CEBPA CCAAT enhancer binding protein alpha gene DOID:630 genetic disease ISO RGD:69121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11739234 CEBPA CCAAT enhancer binding protein alpha gene DOID:649 prion disease ISO RGD:10325 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hippocampus CA1, thalamus (mouse) PMID:23392676|REF_RGD_ID:10401270 11739234 CEBPA CCAAT enhancer binding protein alpha gene DOID:684 hepatocellular carcinoma ISO RGD:69121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16288022|PMID:21785164 11739234 CEBPA CCAAT enhancer binding protein alpha gene DOID:9000277 Radiation-Induced Neoplasms ISO RGD:69121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21346772 11739234 CEBPA CCAAT enhancer binding protein alpha gene DOID:9000998 Brain Injuries ISO RGD:10325 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex (mouse) PMID:19833158|REF_RGD_ID:10401206 11739234 CEBPA CCAAT enhancer binding protein alpha gene DOID:9002278 Metabolic Bone Diseases ISO RGD:10325 D RGD:9068941 20200609 RGD protein:increased expression:thigh bone (mouse) PMID:21982926|REF_RGD_ID:10401269 11739234 CEBPA CCAAT enhancer binding protein alpha gene DOID:9002884 Emphysema ISO RGD:69121 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29078374 11739234 CEBPA CCAAT enhancer binding protein alpha gene DOID:9004464 Skin Neoplasms ISO RGD:69121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21346772 11739234 CEBPA CCAAT enhancer binding protein alpha gene DOID:9004713 Acute-Phase Reaction ISO RGD:2326 D RGD:9068941 20200609 RGD PMID:16172914|REF_RGD_ID:1625368 11739234 CEBPA CCAAT enhancer binding protein alpha gene DOID:9006169 Head and Neck Neoplasms ISO RGD:69121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17510391 11739234 CEBPA CCAAT enhancer binding protein alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69121 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26162409|PMID:28492532|PMID:33179473 11739234 CEBPA CCAAT enhancer binding protein alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69121 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26162409|PMID:27993330|PMID:28492532|PMID:33179473 11739234 CEBPA CCAAT enhancer binding protein alpha gene DOID:9007456 Female Infertility ISO RGD:69121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21177758 11739234 CEBPA CCAAT enhancer binding protein alpha gene DOID:9007801 Diseases of the Aged ISO RGD:69121 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (human) PMID:14769913|REF_RGD_ID:10401224 11739234 CEBPA CCAAT enhancer binding protein alpha gene DOID:9008824 Sarcopenia ISO RGD:10325 D RGD:9068941 20200609 RGD protein:increased expression:thigh muscle (mouse) PMID:21982926|REF_RGD_ID:10401269 11739234 CEBPA CCAAT enhancer binding protein alpha gene DOID:9119 acute myeloid leukemia ISO RGD:69121 D RGD:7240710 20180130 OMIM 11739234 CEBPA CCAAT enhancer binding protein alpha gene DOID:9119 acute myeloid leukemia ISO RGD:69121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11242107|PMID:12661007|PMID:12692518|PMID:14726504|PMID:15575056|PMID:15902292|PMID:18768433|PMID:18946494|PMID:19731081|PMID:19953636|PMID:21177436|PMID:23716546|PMID:23926458|PMID:24220272|PMID:24728327|PMID:25741868|PMID:26162409|PMID:26721895|PMID:27005833|PMID:27993330|PMID:28250006|PMID:28492532|PMID:29296967|PMID:31867767|PMID:32430494|PMID:33179473|PMID:33345654 11739234 CEBPA CCAAT enhancer binding protein alpha gene DOID:9970 obesity ISO RGD:69121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28242765 11739241 RNF182 ring finger protein 182 gene DOID:630 genetic disease ISO RGD:1351673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11739241 RNF182 ring finger protein 182 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 11739241 RNF182 ring finger protein 182 gene DOID:9008939 Breast Neoplasms ISO RGD:1351673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 11739254 WNT10A Wnt family member 10A gene DOID:0050591 tooth agenesis ISO RGD:1315958 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Selective tooth agenesis | ClinVar Annotator: match by term: Tooth agenesis PMID:17847007|PMID:19559398|PMID:20979233|PMID:21279306|PMID:21484994|PMID:22581971|PMID:23401279|PMID:24033266|PMID:24043634|PMID:24311251|PMID:24312213|PMID:24449199|PMID:24700731|PMID:25629078|PMID:25741868|PMID:26964878|PMID:27881089|PMID:28105635|PMID:28492532|PMID:28813618|PMID:28976000|PMID:29364747|PMID:30426266|PMID:30974434 11739254 WNT10A Wnt family member 10A gene DOID:0050746 mantle cell lymphoma ISO RGD:1315958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18787224 11739254 WNT10A Wnt family member 10A gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1315958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11739254 WNT10A Wnt family member 10A gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1315958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex PMID:22581971|PMID:23401279|PMID:24398796|PMID:28492532|PMID:30426266 11739254 WNT10A Wnt family member 10A gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1315958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11739254 WNT10A Wnt family member 10A gene DOID:0111647 Schopf-Schulz-Passarge syndrome ISO RGD:1315958 D RGD:7240710 20180130 OMIM 11739254 WNT10A Wnt family member 10A gene DOID:0111647 Schopf-Schulz-Passarge syndrome ISO RGD:1315958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome PMID:16199547|PMID:17847007|PMID:19471313|PMID:19559398|PMID:20163410|PMID:20979233|PMID:21143469|PMID:21279306|PMID:21484994|PMID:21834823|PMID:22581971|PMID:22670871|PMID:23167694|PMID:23401279|PMID:24033266|PMID:24043634|PMID:24311251|PMID:24312213|PMID:24398796|PMID:24449199|PMID:24458874|PMID:24700731|PMID:24702986|PMID:24902757|PMID:25356970|PMID:25545742|PMID:25629078|PMID:25741868|PMID:26087098|PMID:26964878|PMID:27881089|PMID:28105635|PMID:28492532|PMID:28813618|PMID:28976000|PMID:28981473|PMID:29364747|PMID:30426266|PMID:30569517|PMID:30974434|PMID:31103801|PMID:33034246 11739254 WNT10A Wnt family member 10A gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1315958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11739254 WNT10A Wnt family member 10A gene DOID:14793 hypohidrotic ectodermal dysplasia ISO RGD:1315958 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia PMID:17847007|PMID:19559398|PMID:20979233|PMID:21279306|PMID:21484994|PMID:22581971|PMID:23401279|PMID:24033266|PMID:24449199|PMID:24700731|PMID:25629078|PMID:25741868|PMID:26964878|PMID:27881089|PMID:28105635|PMID:28492532|PMID:28813618|PMID:28976000|PMID:29364747|PMID:30426266|PMID:30974434 11739254 WNT10A Wnt family member 10A gene DOID:2121 ectodermal dysplasia ISO RGD:1315958 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia PMID:17847007|PMID:19559398|PMID:20979233|PMID:21279306|PMID:21484994|PMID:21834823|PMID:22581971|PMID:23167694|PMID:23401279|PMID:24033266|PMID:24043634|PMID:24398796|PMID:24449199|PMID:24700731|PMID:24702986|PMID:24902757|PMID:25356970|PMID:25545742|PMID:25629078|PMID:25741868|PMID:26964878|PMID:27881089|PMID:28105635|PMID:28492532|PMID:28813618|PMID:28976000|PMID:29364747|PMID:30426266|PMID:30974434 11739254 WNT10A Wnt family member 10A gene DOID:3390 palmoplantar keratosis ISO RGD:1315958 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma PMID:24449199|PMID:28492532 11739254 WNT10A Wnt family member 10A gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1315958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11739254 WNT10A Wnt family member 10A gene DOID:630 genetic disease ISO RGD:1315958 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17847007|PMID:19559398|PMID:20979233|PMID:21279306|PMID:21484994|PMID:21834823|PMID:22581971|PMID:23167694|PMID:23401279|PMID:24033266|PMID:24043634|PMID:24398796|PMID:24449199|PMID:24700731|PMID:24702986|PMID:24902757|PMID:25356970|PMID:25545742|PMID:25629078|PMID:25741868|PMID:26964878|PMID:27881089|PMID:28105635|PMID:28492532|PMID:28813618|PMID:28976000|PMID:28981473|PMID:29364747|PMID:30426266|PMID:30569517|PMID:30974434 11739254 WNT10A Wnt family member 10A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11739254 WNT10A Wnt family member 10A gene DOID:9006065 Arthralgia ISO RGD:1315958 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Arthralgias PMID:24449199|PMID:28492532 11739254 WNT10A Wnt family member 10A gene DOID:9008653 Selective Tooth Agenesis 4 ISO RGD:1315958 D RGD:7240710 20180130 OMIM 11739254 WNT10A Wnt family member 10A gene DOID:9008653 Selective Tooth Agenesis 4 ISO RGD:1315958 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LATERAL INCISORS, PEGGED OR MISSING | ClinVar Annotator: match by term: TOOTH AGENESIS, SELECTIVE, 4, WITH OR WITHOUT ECTODERMAL DYSPLASIA | ClinVar Annotator: match by term: Tooth agenesis, selective, 4 PMID:16199547|PMID:17576681|PMID:17847007|PMID:19471313|PMID:19559398|PMID:20163410|PMID:20979233|PMID:21143469|PMID:21279306|PMID:21484994|PMID:21834823|PMID:22581971|PMID:22670871|PMID:23167694|PMID:23401279|PMID:23991204|PMID:24033266|PMID:24043634|PMID:24311251|PMID:24312213|PMID:24398796|PMID:24449199|PMID:24458874|PMID:24700731|PMID:24702986|PMID:24902757|PMID:25356970|PMID:25545742|PMID:25629078|PMID:25741868|PMID:26087098|PMID:26964878|PMID:27657131|PMID:27881089|PMID:28105635|PMID:28492532|PMID:28813618|PMID:2897600|PMID:28976000|PMID:28981473|PMID:29271000|PMID:29364747|PMID:29758562|PMID:30426266|PMID:30569517|PMID:30974434|PMID:31103801|PMID:33034246|PMID:9536098 11739254 WNT10A Wnt family member 10A gene DOID:9008686 Odontoonychodermal Dysplasia ISO RGD:1315958 D RGD:7240710 20180130 OMIM 11739254 WNT10A Wnt family member 10A gene DOID:9008686 Odontoonychodermal Dysplasia ISO RGD:1315958 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 16, HYPO- OR HYPERHIDROTIC/HAIR/TOOTH/NAIL TYPE PMID:16199547|PMID:17576681|PMID:17847007|PMID:19471313|PMID:19559398|PMID:20163410|PMID:20979233|PMID:21143469|PMID:21279306|PMID:21484994|PMID:21834823|PMID:22581971|PMID:22670871|PMID:23167694|PMID:23401279|PMID:23991204|PMID:24033266|PMID:24043634|PMID:24311251|PMID:24312213|PMID:24398796|PMID:24449199|PMID:24458874|PMID:24700731|PMID:24702986|PMID:24902757|PMID:25356970|PMID:25545742|PMID:25629078|PMID:25741868|PMID:26087098|PMID:26964878|PMID:27657131|PMID:27881089|PMID:28105635|PMID:28492532|PMID:28589954|PMID:28813618|PMID:2897600|PMID:28976000|PMID:28981473|PMID:29271000|PMID:29364747|PMID:29758562|PMID:30426266|PMID:30569517|PMID:30974434|PMID:31103801|PMID:33034246|PMID:9536098 11739274 LOC100989577 contactin-4 gene DOID:0060041 autism spectrum disorder ISO RGD:1349263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11739274 LOC100989577 contactin-4 gene DOID:12849 autistic disorder ISO RGD:1349263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:18349135|PMID:18551756|PMID:21681106|PMID:30208311 11739274 LOC100989577 contactin-4 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1349263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:28595731 11739274 LOC100989577 contactin-4 gene DOID:630 genetic disease ISO RGD:1349263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11739274 LOC100989577 contactin-4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11739274 LOC100989577 contactin-4 gene DOID:9006257 Growth Disorders ISO RGD:1349263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15106122 11739274 LOC100989577 contactin-4 gene DOID:9008086 Developmental Disabilities ISO RGD:1349263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15106122 11739274 LOC100989577 contactin-4 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1349263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15106122 11739303 LRP10 LDL receptor related protein 10 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1321391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11739303 LRP10 LDL receptor related protein 10 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1321391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex 11739303 LRP10 LDL receptor related protein 10 gene DOID:2661 myoepithelioma ISO RGD:1321391 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11739303 LRP10 LDL receptor related protein 10 gene DOID:630 genetic disease ISO RGD:1321391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11739303 LRP10 LDL receptor related protein 10 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1321391 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11739303 LRP10 LDL receptor related protein 10 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321391 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11739315 FCRL5 Fc receptor like 5 gene DOID:0080600 COVID-19 ISO RGD:1606497 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11739315 FCRL5 Fc receptor like 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1606497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11739315 FCRL5 Fc receptor like 5 gene DOID:630 genetic disease ISO RGD:1606497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11739315 FCRL5 Fc receptor like 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11739377 LRRC28 leucine rich repeat containing 28 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1316267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 11739377 LRRC28 leucine rich repeat containing 28 gene DOID:630 genetic disease ISO RGD:1316267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11739377 LRRC28 leucine rich repeat containing 28 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316267 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11739402 GEMIN8 gem nuclear organelle associated protein 8 gene DOID:12849 autistic disorder ISO RGD:1343150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11739402 GEMIN8 gem nuclear organelle associated protein 8 gene DOID:630 genetic disease ISO RGD:1343150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11739402 GEMIN8 gem nuclear organelle associated protein 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:0002116 pterygium onset ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion:cds (human) PMID:15273656|REF_RGD_ID:7488957 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:28689274|REF_RGD_ID:14700974 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:0050567 orofacial cleft no_association ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : (human) PMID:11471167|REF_RGD_ID:12792251 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:21243434|REF_RGD_ID:5490537 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:0050745 diffuse large B-cell lymphoma treatment ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:20303013|REF_RGD_ID:10450835 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:0050860 colorectal adenoma susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion:cds (human) PMID:20375710|REF_RGD_ID:7495820 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:12421502|REF_RGD_ID:14700996 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:14662415|REF_RGD_ID:14700962 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : (human) PMID:22213390|REF_RGD_ID:12792245 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:0050902 medulloblastoma ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:18952980|REF_RGD_ID:5490237 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:0050908 myelodysplastic syndrome susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:16620556|REF_RGD_ID:10450800 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:0050908 myelodysplastic syndrome treatment ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:15595630|REF_RGD_ID:10450836 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:0060041 autism spectrum disorder ISO RGD:10697 D RGD:9068941 20220825 MouseDO 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736060 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:736060 D RGD:9068941 20200609 RGD associated with stomach disease PMID:28182092|REF_RGD_ID:14700971 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:0060500 drug allergy ISO RGD:736060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:0060500 drug allergy susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:11007341|REF_RGD_ID:5491000 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:0080177 hepatic veno-occlusive disease susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD associated with Beta-Thalassemia; PMID:15142875|REF_RGD_ID:10450877 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:0080199 colorectal carcinoma ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:16886896|PMID:26909940|REF_RGD_ID:11564625|REF_RGD_ID:14700936 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:736060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23643483 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:0080600 COVID-19 ISO RGD:736060 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:0080750 erythema nodosum susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;DNA:deletion:: (human) PMID:22766250|REF_RGD_ID:7794848 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:0081267 graft-versus-host disease susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD associated with Hemoglobinopathies; PMID:20672371|REF_RGD_ID:10450879 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:736060 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:10241 thalassemia treatment ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : (human) PMID:26691424|REF_RGD_ID:12798507 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:10283 prostate cancer ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:12949934|REF_RGD_ID:14700953 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:10300 Raynaud disease ISO RGD:736060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16977343 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:10320 asbestosis susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:9055949|REF_RGD_ID:5490588 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:1037 lymphoid leukemia susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:22537952|REF_RGD_ID:10450797 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:10485 esophageal atresia ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion:: (human) PMID:20740495|REF_RGD_ID:12792229 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:10487 Hirschsprung's disease susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.K173N (human) (rs1065411) PMID:20661602|REF_RGD_ID:12792222 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:10534 stomach cancer ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:11957090|PMID:15112335|PMID:16270381|PMID:16273625|PMID:16886896|REF_RGD_ID:14700936|REF_RGD_ID:14700945|REF_RGD_ID:14700947|REF_RGD_ID:14700949|REF_RGD_ID:14700977 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:10534 stomach cancer no_association ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:12406553|PMID:24375038|REF_RGD_ID:14700946|REF_RGD_ID:14700964 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:10534 stomach cancer susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion:cds (human) PMID:1427788|REF_RGD_ID:7488951 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:1070 primary open angle glaucoma no_association ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion:cds (human) PMID:12873455|REF_RGD_ID:7488948 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion:cds (human) PMID:11040079|REF_RGD_ID:7488947 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:10763 hypertension ISO RGD:2755 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney (rat) PMID:15699453|REF_RGD_ID:7495838 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:10783 methemoglobinemia susceptibility ISO RGD:10697 D RGD:9068941 20200609 RGD PMID:20562208|REF_RGD_ID:10755319 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion, haplotype:: (human) PMID:28221473|REF_RGD_ID:12792224 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:10892 hypospadias ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion, haplotype: : (human) PMID:21300689|REF_RGD_ID:11576313 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:11054 urinary bladder cancer ISO RGD:736060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18505952|PMID:20972438 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : (human) PMID:18544563|REF_RGD_ID:6906879 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:11088 asphyxia neonatorum severity ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion, haplotype:: (human) PMID:21058530|REF_RGD_ID:12792218 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:11166 papillomavirus infectious disease ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion PMID:16360200|REF_RGD_ID:2293831 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:11650 bronchopulmonary dysplasia susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion, haplotype:: (human) PMID:24120392|REF_RGD_ID:12792215 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:11934 head and neck cancer ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:16721740|PMID:21133595|REF_RGD_ID:14700978|REF_RGD_ID:14700998 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:11934 head and neck cancer ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:20846153|REF_RGD_ID:14700957 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:1205 allergic disease susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:16580705|REF_RGD_ID:5490996 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:1210 optic neuritis ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion, haplotype:cds (human) PMID:19286687|REF_RGD_ID:5148007 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:1240 leukemia ISO RGD:736060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14694614|PMID:18505952 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:12449 aplastic anemia susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD in male PMID:16079101|REF_RGD_ID:10450858 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:12849 autistic disorder ISO RGD:736060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:1289 neurodegenerative disease ISO RGD:736060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:1324 lung cancer resistance ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:19428374|REF_RGD_ID:4140941 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:13550 angle-closure glaucoma susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion, haplotype:cds (human) PMID:18334963|REF_RGD_ID:7488955 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:13580 cholestasis treatment ISO RGD:2755 D RGD:9068941 20200609 RGD PMID:25932098|REF_RGD_ID:14701043 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:13636 Fanconi anemia disease_progression ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:16173971|REF_RGD_ID:10450839 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:13641 exfoliation syndrome no_association ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion:cds (human) PMID:16020292|REF_RGD_ID:7495792 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:13641 exfoliation syndrome susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion, haplotype:cds (human) PMID:18334963|REF_RGD_ID:7488955 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:14330 Parkinson's disease ISO RGD:736060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17449559 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:14330 Parkinson's disease no_association ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion:cds (human) PMID:10534244|REF_RGD_ID:7488959 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:14330 Parkinson's disease onset ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:10720475|REF_RGD_ID:5490167 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:17403576|REF_RGD_ID:5148019 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:1474 aggressive periodontitis ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:17524385|REF_RGD_ID:14700939 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:1485 cystic fibrosis ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion:: (human) PMID:24593045|REF_RGD_ID:10401929 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:1485 cystic fibrosis no_association ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:22407040|REF_RGD_ID:14700942 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:1485 cystic fibrosis no_association ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : (human) PMID:20140303|REF_RGD_ID:12792246 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:1485 cystic fibrosis severity ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion, haplotype:: (human) PMID:23758905|REF_RGD_ID:12792207 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:1485 cystic fibrosis severity ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : (human) PMID:10195071|REF_RGD_ID:12798506 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:1555 urticaria ISO RGD:736060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16433794 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:1555 urticaria ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:16433794|REF_RGD_ID:5490559 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:1584 acute chest syndrome susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD associated with sickle cell anemia; PMID:23590899|REF_RGD_ID:10450838 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:161 keratosis susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion:cds (human) PMID:12485442|REF_RGD_ID:7488960 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:1612 breast cancer ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:15302996|REF_RGD_ID:14700967 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:1612 breast cancer treatment ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:23812950|REF_RGD_ID:10755330 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:1682 congenital heart disease susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion, haplotype:: (human) PMID:21890078|REF_RGD_ID:12792220 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:1749 squamous cell carcinoma ISO RGD:736060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22072123 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:1790 malignant mesothelioma ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion:cds (human) PMID:7606714|REF_RGD_ID:7495814 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:1790 malignant mesothelioma ISO RGD:736060 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:16697254 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:1936 atherosclerosis ISO RGD:736060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19822795 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:2152 ovary epithelial cancer disease_progression ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion PMID:17084623|REF_RGD_ID:2293830 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:2377 multiple sclerosis disease_progression ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:10680782|REF_RGD_ID:5490267 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:2377 multiple sclerosis onset ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion:: (human) PMID:23932298|REF_RGD_ID:12792225 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:2377 multiple sclerosis susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : (human) PMID:17437619|REF_RGD_ID:12792249 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:2596 larynx cancer ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:19252926|REF_RGD_ID:4140943 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:2671 transitional cell carcinoma ISO RGD:736060 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder mucosa PMID:9111645|REF_RGD_ID:2293800 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:2671 transitional cell carcinoma onset ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:18199464|REF_RGD_ID:2293824 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:2841 asthma ISO RGD:736060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16870661|PMID:18988661 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:2841 asthma ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:21051083|REF_RGD_ID:5490962 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:2841 asthma resistance ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:17651144|REF_RGD_ID:4142509 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:2841 asthma susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:11075422|REF_RGD_ID:4140921 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:2893 cervix carcinoma onset ISO RGD:736060 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections;DNA:deletion:cds (human) PMID:10813720|REF_RGD_ID:7495819 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD associated with GSTT1 null deletion; DNA:deletion: : PMID:20297661|REF_RGD_ID:4140932 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:299 adenocarcinoma susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD colon and stomach;protein:decreased activity:liver (human) PMID:1988177|REF_RGD_ID:7488952 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:3069 malignant astrocytoma severity ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:12241105|REF_RGD_ID:5490125 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:3070 high grade glioma severity ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:10965818|REF_RGD_ID:5490163 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736060 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:16919984|REF_RGD_ID:4142517 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:3083 chronic obstructive pulmonary disease resistance ISO RGD:736060 D RGD:9068941 20200609 RGD associated with Carcinoma, Non-Small-Cell Lung; PMID:15038404|REF_RGD_ID:4142538 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:19664521|REF_RGD_ID:4140939 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:3121 gallbladder cancer ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:26925680|REF_RGD_ID:14700928 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:3132 porphyria cutanea tarda susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion:: (human) PMID:20957336|REF_RGD_ID:11576316 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:3310 atopic dermatitis ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:20674822|REF_RGD_ID:5490981 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:3310 atopic dermatitis susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:21176116|REF_RGD_ID:5490539 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion PMID:16620396|REF_RGD_ID:2306633 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:19102712|REF_RGD_ID:2306625 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:3602 toxic encephalopathy ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:27220440|REF_RGD_ID:14700956 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:3602 toxic encephalopathy susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:8923609|REF_RGD_ID:5490214 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:37 skin disease ISO RGD:736060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16353154 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:11860825|PMID:25432134|REF_RGD_ID:14700943|REF_RGD_ID:14700948 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:3748 esophagus squamous cell carcinoma no_association ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:17916905|REF_RGD_ID:14700982 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:3883 Lynch syndrome ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion, haplotype: : (human) PMID:9834266|REF_RGD_ID:12792228 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:4001 ovarian carcinoma ISO RGD:736060 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:31569996 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:4029 gastritis ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:15112335|REF_RGD_ID:14700949 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:418 systemic scleroderma susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.K173N (human) PMID:15135176|REF_RGD_ID:12798510 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:4362 cervical cancer susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:18177825|REF_RGD_ID:2293825 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:4448 macular degeneration ISO RGD:736060 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:pigmented layer of retina (human) PMID:22410570|REF_RGD_ID:12792247 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:4448 macular degeneration susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion:cds (human) PMID:21212706|REF_RGD_ID:7488954 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:4450 renal cell carcinoma ISO RGD:736060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18566013|PMID:26656529 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:14504370|REF_RGD_ID:2293845 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:480 movement disease susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD associated with mental disorders;DNA:deletion: : PMID:16160620|REF_RGD_ID:5490264 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:4906 small intestine adenocarcinoma ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:12940438|REF_RGD_ID:14700963 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion:: (human) PMID:17064856|REF_RGD_ID:12792242 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:4947 cholangiocarcinoma ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:24049014|REF_RGD_ID:14700980 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:5041 esophageal cancer ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:11833070|PMID:12406553|PMID:23749488|PMID:26782562|REF_RGD_ID:11554919|REF_RGD_ID:14700950|REF_RGD_ID:14700964|REF_RGD_ID:14700969 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:5082 liver cirrhosis ISO RGD:2755 D RGD:9068941 20200609 RGD protein:decreased expression:liver (rat) PMID:20141739|REF_RGD_ID:7771534 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:5082 liver cirrhosis ISO RGD:736060 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic PMID:26548378|REF_RGD_ID:11097429 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:5419 schizophrenia susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:15318028|REF_RGD_ID:5490265 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:5419 schizophrenia susceptibility ISO RGD:736060 D RGD:9068941 20200806 RGD DNA:deletion::allele D (human) PMID:11181039|REF_RGD_ID:1358668 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:5773 oral submucous fibrosis ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:22752755|REF_RGD_ID:14701000 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:615 leukopenia susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:19555437|REF_RGD_ID:10450844 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:670 amphetamine abuse ISO RGD:736060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19254865 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7892276 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:20683151|REF_RGD_ID:14700951 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:684 hepatocellular carcinoma no_association ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:20672314|REF_RGD_ID:14700979 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion:cds (human) PMID:11859714|REF_RGD_ID:7488953 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:7148 rheumatoid arthritis ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:16887863|REF_RGD_ID:5490993 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:15940757|REF_RGD_ID:5490998 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:16870093|REF_RGD_ID:5490994 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:783 end stage renal disease ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:24339523|REF_RGD_ID:14700960 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:824 periodontitis ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:15491310|REF_RGD_ID:14700983 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:83 cataract no_association ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion:cds (human) PMID:8631631|REF_RGD_ID:7488950 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:83 cataract susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion:cds (human) PMID:7781744|REF_RGD_ID:7488949 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:850 lung disease susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:15928955|REF_RGD_ID:4142512 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:8567 Hodgkin's lymphoma disease_progression ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:21916526|REF_RGD_ID:10450802 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:8568 infectious mononucleosis susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:22537952|REF_RGD_ID:10450797 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:8577 ulcerative colitis ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:26604430|PMID:28626742|REF_RGD_ID:11538341|REF_RGD_ID:14700999 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:8577 ulcerative colitis susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:17565649|REF_RGD_ID:5490554 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:8618 oral cavity cancer ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:17418613|PMID:17461521|PMID:23057317|REF_RGD_ID:14700938|REF_RGD_ID:14700965|REF_RGD_ID:14700968 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:8692 myeloid leukemia disease_progression ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:11906705|PMID:16313269|REF_RGD_ID:10755328|REF_RGD_ID:10755403 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:8778 Crohn's disease ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:26604430|REF_RGD_ID:11538341 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:8923 skin melanoma susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion:: (human) PMID:11352862|REF_RGD_ID:12792221 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:deletion:cds (human) PMID:19752172|REF_RGD_ID:7495818 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:8997 polycythemia vera susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:22018952|REF_RGD_ID:10450875 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9000307 Presbycusis no_association ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion:cds (human) PMID:15891640|REF_RGD_ID:7495803 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9000307 Presbycusis susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion:cds (human) PMID:17513527|REF_RGD_ID:7495801 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:736060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24036326 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9000548 Drug-induced Anemia susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD associated with breast cancer PMID:23812950|REF_RGD_ID:10755330 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9001004 Chronic Periodontitis ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:17524385|REF_RGD_ID:14700939 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9001018 Mouth Abnormalities susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion, haplotype: : (human) PMID:16521944|REF_RGD_ID:12792248 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:15932176|PMID:26937962|REF_RGD_ID:11060494|REF_RGD_ID:14700973 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9001341 Chloracne ISO RGD:736060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9001472 Nasal Polyps ISO RGD:736060 D RGD:9068941 20200609 RGD associated with GSTT1 null genotype:DNA:deletion: : PMID:16550944|REF_RGD_ID:4142528 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15650968 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2755 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:19595018|REF_RGD_ID:2314952 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:736060 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:deletion:cds: (human) PMID:19752172|REF_RGD_ID:7495818 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9002174 Disease Susceptibility ISO RGD:736060 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:16537716|PMID:31569996 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion:: (human) PMID:19147266|REF_RGD_ID:12792219 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9002231 Fetal Growth Retardation susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:22310945|REF_RGD_ID:10450795 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9002265 Kidney Neoplasms susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion PMID:17617661|REF_RGD_ID:2293828 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11275366|PMID:18304461|PMID:22564066 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9002910 Hearing Loss, Noise-Induced no_association ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion:cds (human) PMID:16535824|REF_RGD_ID:7495798 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9002910 Hearing Loss, Noise-Induced susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion, haplotype:cds (human) PMID:19643173|REF_RGD_ID:7488956 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9003049 Femur Head Necrosis ISO RGD:736060 D RGD:9068941 20200609 RGD associated with sickle cell anemia; PMID:23590899|REF_RGD_ID:10450838 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9003197 Vaso-occlusive Crisis severity ISO RGD:736060 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:deletion:: (human) PMID:24840051|REF_RGD_ID:10450860 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9003507 Premature Birth susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:22949524|REF_RGD_ID:10450837 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9003566 Mesothelioma ISO RGD:736060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17290392 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9004017 Chronic Hepatitis C ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:17397002|REF_RGD_ID:14700966 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9004203 Chromosome Breakage ISO RGD:736060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27406225 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9004207 Testicular Neoplasms ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion PMID:18162130|REF_RGD_ID:2293826 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9004593 Drug-Induced Immune Thrombocytopenia susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms;DNA:deletion: : (human) PMID:19786980|REF_RGD_ID:5688741 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9004593 Drug-Induced Immune Thrombocytopenia treatment ISO RGD:736934 D RGD:9068941 20200609 RGD associated with diffuse large B-cell lymphoma; DNA:deletion:cds: PMID:20303013|REF_RGD_ID:10450835 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9004814 Chromosome Aberrations ISO RGD:736060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159492|PMID:24036326 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9005065 Leukoplakia ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:14735473|REF_RGD_ID:14701001 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9005172 Lung Neoplasms ISO RGD:736060 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:17114358|PMID:17311802|PMID:22072123|PMID:24852519 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9005175 Ulcer susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD associated with sickle cell anemia; PMID:23590899|REF_RGD_ID:10450838 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9005715 Neoplasms, Second Primary ISO RGD:736060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16703596 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9005725 Iron Overload susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD associated with Beta-Thalassemia;DNA:deletion: : (human) PMID:19838709|REF_RGD_ID:10755320 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9005835 Congenital Abnormalities susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion:: (human) PMID:22570144|REF_RGD_ID:12792231 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9006024 Hypotension ISO RGD:2755 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:15942020|REF_RGD_ID:1625563 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2755 D RGD:9068941 20230323 RGD mRNA, protein:decreased expression:kidney PMID:29137244|REF_RGD_ID:158014894 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9006281 Temporomandibular Joint Disorders susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:21615938|REF_RGD_ID:5490535 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9006532 Hematologic Neoplasms no_association ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:10383893|REF_RGD_ID:10755329 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9006532 Hematologic Neoplasms susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD associated with Breast Neoplasms; PMID:11792413|REF_RGD_ID:10450857 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9006592 Sjögren-Mikulicz Syndrome susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:10616008|REF_RGD_ID:5491001 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:29452132|REF_RGD_ID:14700976 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:736060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20951227 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9006738 Hypertension Resistant to Conventional Therapy susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion:cds: (human) PMID:19279659|REF_RGD_ID:7495846 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9007096 Stroke susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD associated with sickle cell anemia; PMID:23590899|REF_RGD_ID:10450838 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9007188 Liver Neoplasms ISO RGD:736060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21214675 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2755 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:21138988|REF_RGD_ID:7241599 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17465707|PMID:18666253 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:25501156|PMID:29523098|REF_RGD_ID:14700937|REF_RGD_ID:14700970 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury no_association ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:24465778|PMID:24903797|REF_RGD_ID:14700941|REF_RGD_ID:14700959 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9007456 Female Infertility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion:: (human) PMID:25010410|REF_RGD_ID:11556525 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9007651 Chronic Bronchitis ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion, haplotype: : (human) PMID:15125256|REF_RGD_ID:12798508 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9007651 Chronic Bronchitis severity ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:9187680|REF_RGD_ID:4142513 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20878130 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9008443 Colorectal Neoplasms no_association ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : (human) PMID:8824506|REF_RGD_ID:12798517 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9008443 Colorectal Neoplasms susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : (human) PMID:23946381|REF_RGD_ID:12798518 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion PMID:18080216|REF_RGD_ID:2293827 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion PMID:17624589|REF_RGD_ID:2293798 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:20226777|REF_RGD_ID:5490989 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : (human) PMID:18035413|REF_RGD_ID:10755318 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:methylation: : PMID:22924777|REF_RGD_ID:10755405 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:11488937|REF_RGD_ID:10450822 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9256 colorectal cancer ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:10445390|REF_RGD_ID:14700958 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9256 colorectal cancer ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion PMID:26406947|REF_RGD_ID:11353274 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:CNVs PMID:27893202|REF_RGD_ID:14700961 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9256 colorectal cancer no_association ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:CNVs PMID:22234881|REF_RGD_ID:14700954 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9261 nasopharynx carcinoma ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:24711137|REF_RGD_ID:14700933 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9261 nasopharynx carcinoma no_association ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:SNP: :1270533T>G (human) PMID:19448408|REF_RGD_ID:14700955 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9351 diabetes mellitus susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:16927413|REF_RGD_ID:2306632 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22652274 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:16413497|REF_RGD_ID:2306628 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:17979505|REF_RGD_ID:2306627 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:20739761|REF_RGD_ID:5490963 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9538 multiple myeloma no_association ISO RGD:2755 D RGD:9068941 20200609 RGD PMID:15136237|REF_RGD_ID:10450846 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9538 multiple myeloma severity ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:17653713|REF_RGD_ID:10450826 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9655 oral mucosa leukoplakia ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:18507060|REF_RGD_ID:14700975 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9669 senile cataract ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:22446016|REF_RGD_ID:14700972 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9675 pulmonary emphysema susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:20495862|REF_RGD_ID:4140927 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:16390810|REF_RGD_ID:2306629 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:10666194|REF_RGD_ID:10450829 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:12827651|REF_RGD_ID:10755409 11739414 GSTM1 glutathione S-transferase mu 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:736060 D RGD:9068941 20200609 RGD PMID:14607752|PMID:15738600|REF_RGD_ID:10755321|REF_RGD_ID:10755410 11739426 PTH1R parathyroid hormone 1 receptor gene DOID:0050591 tooth agenesis ISO RGD:731312 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Oligodontia PMID:25741868 11739426 PTH1R parathyroid hormone 1 receptor gene DOID:0060387 chondrodysplasia Blomstrand type ISO RGD:731312 D RGD:7240710 20190315 OMIM 11739426 PTH1R parathyroid hormone 1 receptor gene DOID:0060387 chondrodysplasia Blomstrand type ISO RGD:731312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type PMID:10523019|PMID:17164305|PMID:17576681|PMID:18559376|PMID:21404329|PMID:23771181|PMID:25741868|PMID:28492532|PMID:31986066|PMID:3975110|PMID:9268097|PMID:9536098|PMID:9649554|PMID:9745456 11739426 PTH1R parathyroid hormone 1 receptor gene DOID:0080020 Jansen's metaphyseal chondrodysplasia ISO RGD:731312 D RGD:7240710 20190315 OMIM 11739426 PTH1R parathyroid hormone 1 receptor gene DOID:0080020 Jansen's metaphyseal chondrodysplasia ISO RGD:731312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, Jansen type PMID:10487664|PMID:17576681|PMID:18559376|PMID:25741868|PMID:28492532|PMID:7701349|PMID:8076140|PMID:8703170|PMID:9536098 11739426 PTH1R parathyroid hormone 1 receptor gene DOID:0111341 primary failure of tooth eruption ISO RGD:731312 D RGD:7240710 20190315 OMIM 11739426 PTH1R parathyroid hormone 1 receptor gene DOID:0111341 primary failure of tooth eruption ISO RGD:731312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary failure of tooth eruption PMID:17576681|PMID:19061984|PMID:23771181|PMID:25741868|PMID:28492532|PMID:7701349|PMID:8076140|PMID:8703170|PMID:9536098|PMID:9745456 11739426 PTH1R parathyroid hormone 1 receptor gene DOID:0111732 Eiken syndrome ISO RGD:731312 D RGD:7240710 20190315 OMIM 11739426 PTH1R parathyroid hormone 1 receptor gene DOID:0111732 Eiken syndrome ISO RGD:731312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Eiken syndrome PMID:15525660|PMID:25741868|PMID:28492532|PMID:29987841|PMID:31297790 11739426 PTH1R parathyroid hormone 1 receptor gene DOID:10609 rickets ISO RGD:731312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10375030 11739426 PTH1R parathyroid hormone 1 receptor gene DOID:12678 hypercalcemia ISO RGD:3442 D RGD:9068941 20200609 RGD protein:increased expression:odontoblast; associated with neoplasms PMID:16036863|REF_RGD_ID:1599980 11739426 PTH1R parathyroid hormone 1 receptor gene DOID:13543 hyperparathyroidism ISO RGD:731312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11014383 11739426 PTH1R parathyroid hormone 1 receptor gene DOID:2256 osteochondrodysplasia ISO RGD:731312 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chondrodysplasia PMID:25741868 11739426 PTH1R parathyroid hormone 1 receptor gene DOID:2256 osteochondrodysplasia susceptibility ISO RGD:731312 D RGD:9068941 20200609 RGD DNA:missense mutations:exon; metaphyseal chondrodysplasia, OMIM:156400 PMID:8703170|REF_RGD_ID:1599978 11739426 PTH1R parathyroid hormone 1 receptor gene DOID:4184 pseudohypoparathyroidism ISO RGD:731312 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Pseudohypoparathyroidism PMID:25741868|PMID:35846276 11739426 PTH1R parathyroid hormone 1 receptor gene DOID:630 genetic disease ISO RGD:731312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11739426 PTH1R parathyroid hormone 1 receptor gene DOID:65 connective tissue disease ISO RGD:731312 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:18559376|PMID:25741868|PMID:28492532 11739426 PTH1R parathyroid hormone 1 receptor gene DOID:684 hepatocellular carcinoma ISO RGD:731312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11739426 PTH1R parathyroid hormone 1 receptor gene DOID:850 lung disease ISO RGD:731312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20857298 11739426 PTH1R parathyroid hormone 1 receptor gene DOID:9000073 Metaphyseal Chondrodysplasia ISO RGD:731312 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia PMID:25741868 11739426 PTH1R parathyroid hormone 1 receptor gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:731312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11739456 DLX4 distal-less homeobox 4 gene DOID:0080408 orofacial cleft 15 ISO RGD:1318695 D RGD:7240710 20190315 OMIM 11739456 DLX4 distal-less homeobox 4 gene DOID:0080408 orofacial cleft 15 ISO RGD:1318695 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Orofacial cleft 15 PMID:25741868|PMID:25954033|PMID:28492532 11739456 DLX4 distal-less homeobox 4 gene DOID:630 genetic disease ISO RGD:1318695 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11739456 DLX4 distal-less homeobox 4 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1318695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:0060309 syndromic X-linked intellectual disability ISO RGD:733678 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: X-linked syndromic intellectual disability PMID:22452838|PMID:25741868 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:0060768 Smith-Magenis syndrome ISO RGD:733678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:25741868|PMID:27799067 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:733678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:733678 D RGD:7240710 20180130 OMIM 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:733678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Najm type PMID:16199547|PMID:17576681|PMID:18414213|PMID:19165920|PMID:19377476|PMID:20029458|PMID:21609947|PMID:21735175|PMID:21954287|PMID:22452838|PMID:22495306|PMID:22709267|PMID:23165780|PMID:23406872|PMID:23871722|PMID:23901204|PMID:24505460|PMID:24781210|PMID:24893065|PMID:25326635|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27173948|PMID:27652284|PMID:27799067|PMID:28132688|PMID:28407358|PMID:28492532|PMID:28783747|PMID:28944139|PMID:29691940|PMID:29878067|PMID:30549415|PMID:31474318|PMID:31785789|PMID:33090494|PMID:33504798|PMID:9536098 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:0070338 cerebellar hypoplasia ISO RGD:733678 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:21735175|PMID:25326635|PMID:25741868|PMID:31474318|PMID:32581362 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:10283 prostate cancer ISO RGD:733678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:1059 intellectual disability ISO RGD:733678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:10907 microcephaly ISO RGD:733678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19165920 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:12849 autistic disorder ISO RGD:733678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:13628 favism ISO RGD:733678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:14711 FG syndrome ISO RGD:733678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:14711 FG syndrome ISO RGD:733678 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.R28L (c.83G>T) (human) PMID:19200522|REF_RGD_ID:11576290 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:1826 epilepsy ISO RGD:733678 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:2786 cerebellar disease ISO RGD:733678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19165920 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:305 carcinoma ISO RGD:733678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:543 dystonia ISO RGD:733678 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:630 genetic disease ISO RGD:733678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:19165920|PMID:19377476|PMID:20029458|PMID:21954287|PMID:22452838|PMID:22709267|PMID:23871722|PMID:24505460|PMID:24781210|PMID:24893065|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28944139 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:674 cleft palate ISO RGD:62296 D RGD:9068941 20200609 RGD DNA:insertion PMID:9787075|REF_RGD_ID:11576291 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:674 cleft palate ISO RGD:733678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9787075 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:9000441 Butyrylcholinesterase Deficiency ISO RGD:733678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of butyrylcholine esterase PMID:25741868 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:9000459 Acholinesterasemia ISO RGD:733678 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acholinesterasemia PMID:25741868 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:9000998 Brain Injuries ISO RGD:62004 D RGD:9068941 20200609 RGD PMID:25089700|REF_RGD_ID:11576302 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:9001153 FG Syndrome 4 ISO RGD:733678 D RGD:7240710 20200226 OMIM 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:9001153 FG Syndrome 4 ISO RGD:733678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CASK-Related Disorder | ClinVar Annotator: match by term: FG syndrome 4 PMID:18414213|PMID:19165920|PMID:19200522|PMID:19377476|PMID:20029458|PMID:21954287|PMID:22452838|PMID:22709267|PMID:23406872|PMID:23871722|PMID:24505460|PMID:24781210|PMID:25741868|PMID:27652284|PMID:27799067|PMID:28492532|PMID:28944139|PMID:29878067|PMID:30549415|PMID:33090494 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:9005850 Hereditary Optic Atrophies ISO RGD:733678 D RGD:9068941 20200609 RGD PMID:9722958|REF_RGD_ID:734690 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:733678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19165920|PMID:19377476 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:9006534 Nervous System Malformations ISO RGD:733678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:9008086 Developmental Disabilities ISO RGD:733678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:32581362 11739463 CASK calcium/calmodulin dependent serine protein kinase gene DOID:9008582 Developmental Disease ISO RGD:733678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11739527 GPBP1 GC-rich promoter binding protein 1 gene DOID:630 genetic disease ISO RGD:1607008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11739527 GPBP1 GC-rich promoter binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11739561 TP53I3 tumor protein p53 inducible protein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1602900 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11739561 TP53I3 tumor protein p53 inducible protein 3 gene DOID:0080600 COVID-19 ISO RGD:1602900 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11739561 TP53I3 tumor protein p53 inducible protein 3 gene DOID:305 carcinoma ISO RGD:1602900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 11739561 TP53I3 tumor protein p53 inducible protein 3 gene DOID:630 genetic disease ISO RGD:1602900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11739561 TP53I3 tumor protein p53 inducible protein 3 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1602900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 11739579 ZBED2 zinc finger BED-type containing 2 gene DOID:630 genetic disease ISO RGD:1348309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11739585 MHC-DMB HLA class II histocompatibility antigen, DM beta chain gene DOID:0050553 JMP syndrome ISO RGD:1349438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11739585 MHC-DMB HLA class II histocompatibility antigen, DM beta chain gene DOID:13241 Behcet's disease no_association ISO RGD:1349438 D RGD:9068941 20200609 RGD PMID:10375868|REF_RGD_ID:1582700 11739585 MHC-DMB HLA class II histocompatibility antigen, DM beta chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11739598 B9D1 B9 domain containing 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1602004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868 11739598 B9D1 B9 domain containing 1 gene DOID:0050777 Joubert syndrome ISO RGD:1602004 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:17576681|PMID:21493627|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098 11739598 B9D1 B9 domain containing 1 gene DOID:0050778 Meckel syndrome ISO RGD:1602004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25741868 11739598 B9D1 B9 domain containing 1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1602004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 11739598 B9D1 B9 domain containing 1 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1602004 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 11739598 B9D1 B9 domain containing 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1602004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16007087|PMID:17576681|PMID:21493627|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:27123465|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098 11739598 B9D1 B9 domain containing 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1602004 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:24886560|PMID:26092869 11739598 B9D1 B9 domain containing 1 gene DOID:0110996 Joubert Syndrome 27 ISO RGD:1602004 D RGD:7240710 20190315 OMIM 11739598 B9D1 B9 domain containing 1 gene DOID:0110996 Joubert Syndrome 27 ISO RGD:1602004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 27 PMID:17576681|PMID:21493627|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098 11739598 B9D1 B9 domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1602004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11739598 B9D1 B9 domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1602004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11739598 B9D1 B9 domain containing 1 gene DOID:630 genetic disease ISO RGD:1602004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11739598 B9D1 B9 domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602004 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11739598 B9D1 B9 domain containing 1 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1602004 D RGD:7240710 20180130 OMIM 11739598 B9D1 B9 domain containing 1 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1602004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627|PMID:25741868|PMID:28492532 11739598 B9D1 B9 domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602004 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11739609 AMN amnion associated transmembrane protein gene DOID:0050731 vitamin B12 deficiency ISO RGD:1318522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitamin B12 deficiency PMID:25741868 11739609 AMN amnion associated transmembrane protein gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1318522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11739609 AMN amnion associated transmembrane protein gene DOID:13382 megaloblastic anemia ISO RGD:1318522 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Megaloblastic anemia | ClinVar Annotator: match by term: Megaloblastic anemia due to inborn errors of metabolism PMID:12590260|PMID:13852753|PMID:15024727|PMID:16199547|PMID:17114957|PMID:17285242|PMID:17576681|PMID:21750092|PMID:22078000|PMID:22929189|PMID:24156255|PMID:25741868|PMID:28492532|PMID:30523278|PMID:6741523|PMID:9536098 11739609 AMN amnion associated transmembrane protein gene DOID:13382 megaloblastic anemia susceptibility ISO RGD:1318522 D RGD:9068941 20200609 RGD PMID:12590260|REF_RGD_ID:1599101 11739609 AMN amnion associated transmembrane protein gene DOID:3021 acute kidney failure ISO RGD:1318522 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20514524 11739609 AMN amnion associated transmembrane protein gene DOID:630 genetic disease ISO RGD:1318522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11739609 AMN amnion associated transmembrane protein gene DOID:9000197 Edema ISO RGD:1318522 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17698245 11739609 AMN amnion associated transmembrane protein gene DOID:9001392 Herpes Simplex Encephalitis 3 ISO RGD:1318522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 PMID:28492532 11739609 AMN amnion associated transmembrane protein gene DOID:9001579 Neurogenic Inflammation ISO RGD:1318522 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16938409|PMID:17698245 11739609 AMN amnion associated transmembrane protein gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1318522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 11739609 AMN amnion associated transmembrane protein gene DOID:9006481 Imerslund-Grasbeck Syndrome 1 ISO RGD:1318522 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Enterocyte cobalamin malabsorption | ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type PMID:12590260|PMID:13852753|PMID:15024727|PMID:16199547|PMID:17114957|PMID:17285242|PMID:17576681|PMID:21750092|PMID:22078000|PMID:22929189|PMID:24156255|PMID:25741868|PMID:28492532|PMID:30523278|PMID:6741523|PMID:9536098 11739609 AMN amnion associated transmembrane protein gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:1318522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:12590260|PMID:13852753|PMID:15024727|PMID:16199547|PMID:17114957|PMID:17285242|PMID:17576681|PMID:18181028|PMID:21750092|PMID:22078000|PMID:22631584|PMID:22929189|PMID:24156255|PMID:25741868|PMID:28492532|PMID:30523278|PMID:30691194|PMID:6741523|PMID:9536098 11739609 AMN amnion associated transmembrane protein gene DOID:9007240 Imerslund-Grasbeck Syndrome 2 ISO RGD:1318522 D RGD:7240710 20200610 OMIM 11739609 AMN amnion associated transmembrane protein gene DOID:9007240 Imerslund-Grasbeck Syndrome 2 ISO RGD:1318522 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE | ClinVar Annotator: match by term: Megaloblastic anemia 1, Norwegian type PMID:12590260|PMID:13852753|PMID:15024727|PMID:16199547|PMID:17114957|PMID:17285242|PMID:17576681|PMID:22078000|PMID:22929189|PMID:24156255|PMID:25741868|PMID:26040326|PMID:28492532|PMID:30523278|PMID:6741523|PMID:9536098 11739609 AMN amnion associated transmembrane protein gene DOID:9008511 Extravasation of Diagnostic and Therapeutic Materials ISO RGD:1318522 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17698245 11739622 MAGEB6B MAGE family member B6B gene DOID:12849 autistic disorder ISO RGD:1351509 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11739625 PSMD7 proteasome 26S subunit, non-ATPase 7 gene DOID:630 genetic disease ISO RGD:1315780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11739657 LRRC39 leucine rich repeat containing 39 gene DOID:630 genetic disease ISO RGD:1606975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11739657 LRRC39 leucine rich repeat containing 39 gene DOID:9269 maple syrup urine disease ISO RGD:1606975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 11739679 LOC100973313 olfactory receptor 10J5 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1349251 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11739679 LOC100973313 olfactory receptor 10J5 gene DOID:1540 parathyroid carcinoma ISO RGD:1349251 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11739679 LOC100973313 olfactory receptor 10J5 gene DOID:630 genetic disease ISO RGD:1349251 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11739679 LOC100973313 olfactory receptor 10J5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349251 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11739684 LOC100973548 olfactory receptor 51G2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1351753 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11739684 LOC100973548 olfactory receptor 51G2 gene DOID:630 genetic disease ISO RGD:1351753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11739689 NPPB natriuretic peptide B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:69139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11739689 NPPB natriuretic peptide B gene DOID:0050700 cardiomyopathy ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14745153|PMID:16127512 11739689 NPPB natriuretic peptide B gene DOID:0060224 atrial fibrillation ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15864246 11739689 NPPB natriuretic peptide B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:69139 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11739689 NPPB natriuretic peptide B gene DOID:0080322 polycystic kidney disease treatment ISO RGD:3194 D RGD:9068941 20200609 RGD PMID:28416225|REF_RGD_ID:14701038 11739689 NPPB natriuretic peptide B gene DOID:0080600 COVID-19 disease_progression ISO RGD:69139 D RGD:9068941 20200618 RGD PMID:32293449|REF_RGD_ID:30296680 11739689 NPPB natriuretic peptide B gene DOID:0080600 COVID-19 disease_progression ISO RGD:69139 D RGD:9068941 20200618 RGD associated with diabetes mellitus PMID:32345579|REF_RGD_ID:30296681 11739689 NPPB natriuretic peptide B gene DOID:0080600 COVID-19 severity ISO RGD:69139 D RGD:9068941 20200619 RGD PMID:32302954|PMID:32427582|PMID:32434874|REF_RGD_ID:30296677|REF_RGD_ID:30296679|REF_RGD_ID:30309200 11739689 NPPB natriuretic peptide B gene DOID:0080600 COVID-19 severity ISO RGD:69139 D RGD:9068941 20200625 RGD associated with hyperglycemia;protein:increased expression:serum (human) PMID:32406594|REF_RGD_ID:32698682 11739689 NPPB natriuretic peptide B gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:69139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 PMID:28492532 11739689 NPPB natriuretic peptide B gene DOID:1073 renal hypertension ISO RGD:3194 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:20139323|REF_RGD_ID:7248593 11739689 NPPB natriuretic peptide B gene DOID:1073 renal hypertension ISO RGD:3194 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22188107|REF_RGD_ID:6907405 11739689 NPPB natriuretic peptide B gene DOID:1073 renal hypertension ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:plasma PMID:12697975|REF_RGD_ID:7248660 11739689 NPPB natriuretic peptide B gene DOID:10763 hypertension ISO RGD:3194 D RGD:9068941 20200609 RGD PMID:11897768|REF_RGD_ID:70484 11739689 NPPB natriuretic peptide B gene DOID:10763 hypertension ISO RGD:69139 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19219041|PMID:24039778|PMID:30310171|PMID:32147540|PMID:9194512 11739689 NPPB natriuretic peptide B gene DOID:10763 hypertension susceptibility ISO RGD:69139 D RGD:9068941 20200609 RGD DNA:repeats PMID:17554401|REF_RGD_ID:1642191 11739689 NPPB natriuretic peptide B gene DOID:10763 hypertension treatment ISO RGD:3194 D RGD:9068941 20200609 RGD PMID:21403100|REF_RGD_ID:5685657 11739689 NPPB natriuretic peptide B gene DOID:10825 essential hypertension ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:9350073|REF_RGD_ID:7246914 11739689 NPPB natriuretic peptide B gene DOID:10923 sickle cell anemia ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20408845 11739689 NPPB natriuretic peptide B gene DOID:10923 sickle cell anemia severity ISO RGD:69139 D RGD:9068941 20200609 RGD PMID:21689089|REF_RGD_ID:5685653 11739689 NPPB natriuretic peptide B gene DOID:11394 adult respiratory distress syndrome ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Ventilator-Induced Lung Injury;protein:increased expression:serum: PMID:23837838|REF_RGD_ID:7247620 11739689 NPPB natriuretic peptide B gene DOID:114 heart disease ISO RGD:3194 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:heart PMID:10828832|REF_RGD_ID:1642294 11739689 NPPB natriuretic peptide B gene DOID:114 heart disease ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18004637 11739689 NPPB natriuretic peptide B gene DOID:114 heart disease ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Mucocutaneous Lymph Node Syndrome PMID:22087201|REF_RGD_ID:5685644 11739689 NPPB natriuretic peptide B gene DOID:114 heart disease ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Renal Insufficiency,chronic;protein:increased expression:serum: PMID:22038201|REF_RGD_ID:7247634 11739689 NPPB natriuretic peptide B gene DOID:11516 hypertensive heart disease ISO RGD:3194 D RGD:9068941 20200609 RGD PMID:21403100|REF_RGD_ID:5685657 11739689 NPPB natriuretic peptide B gene DOID:11981 morbid obesity ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17273651|REF_RGD_ID:1642195 11739689 NPPB natriuretic peptide B gene DOID:1287 cardiovascular system disease ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19220183 11739689 NPPB natriuretic peptide B gene DOID:12930 dilated cardiomyopathy ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16762803|PMID:18628775 11739689 NPPB natriuretic peptide B gene DOID:12930 dilated cardiomyopathy ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18068619|REF_RGD_ID:2324684 11739689 NPPB natriuretic peptide B gene DOID:12930 dilated cardiomyopathy ameliorates ISO RGD:69139 D RGD:9068941 20230415 RGD mRNA,protein:increased expression:heart (human) PMID:24275554|REF_RGD_ID:11252017 11739689 NPPB natriuretic peptide B gene DOID:13378 Kawasaki disease ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21410593|REF_RGD_ID:5685654 11739689 NPPB natriuretic peptide B gene DOID:1682 congenital heart disease ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16014188 11739689 NPPB natriuretic peptide B gene DOID:1936 atherosclerosis ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, chronic;protein:increased expression:blood: PMID:22863432|REF_RGD_ID:7247628 11739689 NPPB natriuretic peptide B gene DOID:1936 atherosclerosis susceptibility ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Hypertension,Renal; DNA:SNP:promoter: -381 T>C,rs198389 (human) PMID:19413180|REF_RGD_ID:7248594 11739689 NPPB natriuretic peptide B gene DOID:2527 nephrosis ISO RGD:3194 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:8289999|REF_RGD_ID:7247315 11739689 NPPB natriuretic peptide B gene DOID:3021 acute kidney failure ISO RGD:3194 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:22209992|REF_RGD_ID:7247715 11739689 NPPB natriuretic peptide B gene DOID:3021 acute kidney failure ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Myocardial Infarction;protein:increased expression:serum: PMID:23192919|REF_RGD_ID:7247624 11739689 NPPB natriuretic peptide B gene DOID:3021 acute kidney failure ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Pneumonia;protein:increased expression:serum: PMID:23415693|REF_RGD_ID:7247622 11739689 NPPB natriuretic peptide B gene DOID:3021 acute kidney failure ISO RGD:69139 D RGD:9068941 20200609 RGD associated with lung diseases;protein:increased expression:serum: PMID:23837838|REF_RGD_ID:7247620 11739689 NPPB natriuretic peptide B gene DOID:3393 coronary artery disease ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18022110 11739689 NPPB natriuretic peptide B gene DOID:4500 hypokalemia ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20339970 11739689 NPPB natriuretic peptide B gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:11004 D RGD:9068941 20200609 RGD PMID:11729234|REF_RGD_ID:7248605 11739689 NPPB natriuretic peptide B gene DOID:5082 liver cirrhosis ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:9350073|REF_RGD_ID:7246914 11739689 NPPB natriuretic peptide B gene DOID:5082 liver cirrhosis severity ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:23940514|REF_RGD_ID:7248670 11739689 NPPB natriuretic peptide B gene DOID:5199 ureteral obstruction ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26207612 11739689 NPPB natriuretic peptide B gene DOID:57 aortic valve insufficiency ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 11739689 NPPB natriuretic peptide B gene DOID:576 proteinuria ISO RGD:3194 D RGD:9068941 20200609 RGD PMID:26063669|REF_RGD_ID:12910116 11739689 NPPB natriuretic peptide B gene DOID:5844 myocardial infarction ISO RGD:3194 D RGD:9068941 20200609 RGD PMID:17256064|PMID:19858735|REF_RGD_ID:1642266|REF_RGD_ID:2324680 11739689 NPPB natriuretic peptide B gene DOID:5844 myocardial infarction ISO RGD:69139 D RGD:9068941 20200609 RGD PMID:17639095|REF_RGD_ID:7247724 11739689 NPPB natriuretic peptide B gene DOID:6000 congestive heart failure ISO RGD:3194 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:1831369|REF_RGD_ID:7247316 11739689 NPPB natriuretic peptide B gene DOID:6000 congestive heart failure ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11136700|PMID:11279304|PMID:12628948|PMID:15732037|PMID:15860969|PMID:16101196|PMID:16333235|PMID:16360360|PMID:16762801|PMID:16777915|PMID:19650993|PMID:24535859|PMID:29959987 11739689 NPPB natriuretic peptide B gene DOID:6000 congestive heart failure ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;protein:increased expression:plasma PMID:17257273|REF_RGD_ID:1642196 11739689 NPPB natriuretic peptide B gene DOID:6000 congestive heart failure ISO RGD:69139 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:heart,plasma PMID:11421854|REF_RGD_ID:1580139 11739689 NPPB natriuretic peptide B gene DOID:6000 congestive heart failure severity ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:2143809|REF_RGD_ID:1580140 11739689 NPPB natriuretic peptide B gene DOID:630 genetic disease ISO RGD:69139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11739689 NPPB natriuretic peptide B gene DOID:6364 migraine ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22165670|REF_RGD_ID:5685652 11739689 NPPB natriuretic peptide B gene DOID:6432 pulmonary hypertension ISO RGD:3194 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16936438|REF_RGD_ID:1642203 11739689 NPPB natriuretic peptide B gene DOID:6432 pulmonary hypertension ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20408845|PMID:21351102 11739689 NPPB natriuretic peptide B gene DOID:6432 pulmonary hypertension severity ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16893710|REF_RGD_ID:1642205 11739689 NPPB natriuretic peptide B gene DOID:783 end stage renal disease ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:7606877|REF_RGD_ID:7246912 11739689 NPPB natriuretic peptide B gene DOID:784 chronic kidney disease disease_progression ISO RGD:69139 D RGD:9068941 20200609 RGD PMID:23725445|REF_RGD_ID:7246908 11739689 NPPB natriuretic peptide B gene DOID:9000543 Death ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary PMID:17296640|REF_RGD_ID:1642194 11739689 NPPB natriuretic peptide B gene DOID:9000590 Dyspnea ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20339970 11739689 NPPB natriuretic peptide B gene DOID:9000641 Pain ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27687165 11739689 NPPB natriuretic peptide B gene DOID:9000669 Ventricular Dysfunction, Right ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16014188|PMID:19650993 11739689 NPPB natriuretic peptide B gene DOID:9000790 Postoperative Complications ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23019395 11739689 NPPB natriuretic peptide B gene DOID:9000998 Brain Injuries ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19803787 11739689 NPPB natriuretic peptide B gene DOID:9000998 Brain Injuries ISO RGD:69139 D RGD:9068941 20200609 RGD associated with lung diseases;protein:increased expression:serum: PMID:23837838|REF_RGD_ID:7247620 11739689 NPPB natriuretic peptide B gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:3194 D RGD:9068941 20200609 RGD associated with Renal Insufficiency; protein:increased expression:blood: PMID:22071162|REF_RGD_ID:7247632 11739689 NPPB natriuretic peptide B gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16689991 11739689 NPPB natriuretic peptide B gene DOID:9002097 High Cardiac Output ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20339970 11739689 NPPB natriuretic peptide B gene DOID:9002165 Diabetic Nephropathies ISO RGD:11004 D RGD:9068941 20200609 RGD PMID:16917760|REF_RGD_ID:7248603 11739689 NPPB natriuretic peptide B gene DOID:9002165 Diabetic Nephropathies ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma PMID:10404802|REF_RGD_ID:7247731 11739689 NPPB natriuretic peptide B gene DOID:9002371 Cardiotoxicity ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29959987 11739689 NPPB natriuretic peptide B gene DOID:9002676 Cerebral Hemorrhage ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19803787 11739689 NPPB natriuretic peptide B gene DOID:9003234 Hypertensive Nephropathy ISO RGD:3194 D RGD:9068941 20201211 RGD PMID:26063669|REF_RGD_ID:12910116 11739689 NPPB natriuretic peptide B gene DOID:9003936 Cardiomegaly ISO RGD:3194 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA:increased expression:heart PMID:16762434|REF_RGD_ID:1642206 11739689 NPPB natriuretic peptide B gene DOID:9003936 Cardiomegaly ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15942707|PMID:15969258|PMID:18056528|PMID:21565836 11739689 NPPB natriuretic peptide B gene DOID:9003936 Cardiomegaly ameliorates ISO RGD:11004 D RGD:9068941 20230415 RGD PMID:24275554|REF_RGD_ID:11252017 11739689 NPPB natriuretic peptide B gene DOID:9003936 Cardiomegaly treatment ISO RGD:3194 D RGD:9068941 20200609 RGD PMID:23905381|REF_RGD_ID:7297051 11739689 NPPB natriuretic peptide B gene DOID:9004363 Eisenmenger Complex disease_progression ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:blood: PMID:22397941|REF_RGD_ID:7247629 11739689 NPPB natriuretic peptide B gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3194 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:16272201|REF_RGD_ID:1580154 11739689 NPPB natriuretic peptide B gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17118955|REF_RGD_ID:1642202 11739689 NPPB natriuretic peptide B gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:3194 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:24013683|REF_RGD_ID:7297044 11739689 NPPB natriuretic peptide B gene DOID:9005141 Ventricular Tachycardia ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20339970 11739689 NPPB natriuretic peptide B gene DOID:9005372 Inflammation ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19803787 11739689 NPPB natriuretic peptide B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3194 D RGD:9068941 20200609 RGD protein:increased expression:atrium myocardium, plasma PMID:17151299|REF_RGD_ID:1642199 11739689 NPPB natriuretic peptide B gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Heart Failure PMID:20438292|REF_RGD_ID:7248591 11739689 NPPB natriuretic peptide B gene DOID:9006024 Hypotension ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20339970|PMID:9194512 11739689 NPPB natriuretic peptide B gene DOID:9006205 Animal Disease Models ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11739689 NPPB natriuretic peptide B gene DOID:9006635 Hyponatremia ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Brain Injuries PMID:21808206|REF_RGD_ID:5685651 11739689 NPPB natriuretic peptide B gene DOID:9007174 Ventricular Remodeling ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11739689 NPPB natriuretic peptide B gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:11004 D RGD:9068941 20230406 RGD associated with myocardial infarction PMID:25726944|REF_RGD_ID:11252030 11739689 NPPB natriuretic peptide B gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:69139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 11739689 NPPB natriuretic peptide B gene DOID:9007692 Insulin Resistance ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Obesity and Hypertension;protein:decreased expression:serum PMID:17392814|REF_RGD_ID:1642192 11739689 NPPB natriuretic peptide B gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3194 D RGD:9068941 20200609 RGD PMID:21168723|REF_RGD_ID:5685663 11739689 NPPB natriuretic peptide B gene DOID:9008830 Vasovagal Syncope ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Syncope;protein:increased expression:serum: PMID:23373852|REF_RGD_ID:7247623 11739689 NPPB natriuretic peptide B gene DOID:9279 hyperhomocysteinemia ISO RGD:3194 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart, plasma PMID:17303690|REF_RGD_ID:1642265 11739689 NPPB natriuretic peptide B gene DOID:9351 diabetes mellitus onset ISO RGD:69139 D RGD:9068941 20200609 RGD PMID:23733199|REF_RGD_ID:7246907 11739689 NPPB natriuretic peptide B gene DOID:9352 type 2 diabetes mellitus ISO RGD:3194 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18192848|REF_RGD_ID:2293330 11739689 NPPB natriuretic peptide B gene DOID:9352 type 2 diabetes mellitus ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22037102|REF_RGD_ID:5685645 11739689 NPPB natriuretic peptide B gene DOID:9477 pulmonary embolism disease_progression ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:23562569|REF_RGD_ID:7247621 11739689 NPPB natriuretic peptide B gene DOID:9651 systolic heart failure ISO RGD:69139 D RGD:9068941 20200609 RGD PMID:23122795|REF_RGD_ID:7247627 11739689 NPPB natriuretic peptide B gene DOID:9651 systolic heart failure ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Renal Insufficiency;protein:increased expression:plasma: PMID:23725445|REF_RGD_ID:7246908 11739689 NPPB natriuretic peptide B gene DOID:9970 obesity ISO RGD:3194 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:24009719|REF_RGD_ID:7327171 11739689 NPPB natriuretic peptide B gene DOID:9970 obesity ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:21959345|REF_RGD_ID:5685647 11739696 ILF3 interleukin enhancer binding factor 3 gene DOID:630 genetic disease ISO RGD:731671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11739747 SLC41A2 solute carrier family 41 member 2 gene DOID:630 genetic disease ISO RGD:1316398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11739762 SNAPC2 small nuclear RNA activating complex polypeptide 2 gene DOID:0080490 mucolipidosis type IV ISO RGD:1312116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11739762 SNAPC2 small nuclear RNA activating complex polypeptide 2 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1312116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 11739762 SNAPC2 small nuclear RNA activating complex polypeptide 2 gene DOID:630 genetic disease ISO RGD:1312116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11739776 DAB1 DAB adaptor protein 1 gene DOID:0050952 spastic ataxia ISO RGD:1353804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 11739776 DAB1 DAB adaptor protein 1 gene DOID:0050984 spinocerebellar ataxia type 37 ISO RGD:1353804 D RGD:7240710 20190315 OMIM 11739776 DAB1 DAB adaptor protein 1 gene DOID:0050984 spinocerebellar ataxia type 37 ISO RGD:1353804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 37 PMID:23700170|PMID:25741868|PMID:28686858|PMID:29939198 11739776 DAB1 DAB adaptor protein 1 gene DOID:0060673 Peters anomaly ISO RGD:1353804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:26893459 11739776 DAB1 DAB adaptor protein 1 gene DOID:12849 autistic disorder ISO RGD:1353804 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15820235 11739776 DAB1 DAB adaptor protein 1 gene DOID:12849 autistic disorder ISO RGD:1353804 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebellum, Brodmann area 9 (human) PMID:15820235|REF_RGD_ID:2317973 11739776 DAB1 DAB adaptor protein 1 gene DOID:1824 status epilepticus ISO RGD:628770 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus (rat) PMID:17314278|REF_RGD_ID:2317783 11739776 DAB1 DAB adaptor protein 1 gene DOID:630 genetic disease ISO RGD:1353804 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11739819 SMCO2 single-pass membrane protein with coiled-coil domains 2 gene DOID:630 genetic disease ISO RGD:2303335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11739828 NPHP4 nephrocystin 4 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1351118 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia PMID:25741868|PMID:28492532 11739828 NPHP4 nephrocystin 4 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1351118 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11739828 NPHP4 nephrocystin 4 gene DOID:0080205 CAKUT ISO RGD:1351118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:28492532|PMID:30143558 11739828 NPHP4 nephrocystin 4 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1351118 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868|PMID:28492532 11739828 NPHP4 nephrocystin 4 gene DOID:0110999 Joubert syndrome 4 ISO RGD:1351118 D RGD:9068941 20200609 RGD DNA:mutations:exon, intron:multiple PMID:15776426|REF_RGD_ID:11068164 11739828 NPHP4 nephrocystin 4 gene DOID:0111112 nephronophthisis 1 ISO RGD:1351118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:12205563|PMID:15776426|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22773737|PMID:23217326|PMID:23559409|PMID:25741868|PMID:28492532|PMID:29127258|PMID:30143558 11739828 NPHP4 nephrocystin 4 gene DOID:0111115 nephronophthisis 4 ISO RGD:1351118 D RGD:7240710 20180130 OMIM 11739828 NPHP4 nephrocystin 4 gene DOID:0111115 nephronophthisis 4 ISO RGD:1351118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis 4 PMID:12205563|PMID:12244321|PMID:1248184|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:17954299|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23217326|PMID:23559409|PMID:24033266|PMID:25445212|PMID:25472526|PMID:25558065|PMID:25741868|PMID:26346198|PMID:26489029|PMID:26920127|PMID:27004616|PMID:27491411|PMID:28492532|PMID:29127258|PMID:30143558|PMID:31810733|PMID:32865313|PMID:33532864|PMID:34295353|PMID:9536098 11739828 NPHP4 nephrocystin 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1351118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868 11739828 NPHP4 nephrocystin 4 gene DOID:12712 nephronophthisis ISO RGD:1351118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:11920287|PMID:12205563|PMID:12244321|PMID:1248184|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:17954299|PMID:18076122|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23217326|PMID:23559409|PMID:24033266|PMID:25445212|PMID:25472526|PMID:25558065|PMID:25741868|PMID:26346198|PMID:26920127|PMID:27004616|PMID:27491411|PMID:28492532|PMID:29127258|PMID:30143558|PMID:6837691|PMID:9536098 11739828 NPHP4 nephrocystin 4 gene DOID:12712 nephronophthisis ISO RGD:1351118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:11920287|PMID:12205563|PMID:12244321|PMID:1248184|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:17954299|PMID:18076122|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23217326|PMID:23559409|PMID:24033266|PMID:25445212|PMID:25472526|PMID:25558065|PMID:25741868|PMID:26346198|PMID:26489029|PMID:26920127|PMID:27004616|PMID:27491411|PMID:28492532|PMID:29127258|PMID:30143558|PMID:31810733|PMID:32865313|PMID:34295353|PMID:6837691|PMID:9536098 11739828 NPHP4 nephrocystin 4 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1351118 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868|PMID:28492532 11739828 NPHP4 nephrocystin 4 gene DOID:14791 Leber congenital amaurosis ISO RGD:1351118 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25445212|PMID:25741868|PMID:26920127|PMID:28492532 11739828 NPHP4 nephrocystin 4 gene DOID:1682 congenital heart disease ISO RGD:1351118 D RGD:9068941 20200609 RGD DNA:missense mutations: :multiple PMID:22550138|REF_RGD_ID:11537354 11739828 NPHP4 nephrocystin 4 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1351118 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:15776426|PMID:25741868|PMID:28492532 11739828 NPHP4 nephrocystin 4 gene DOID:5223 infertility ISO RGD:1351118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infertility PMID:12205563|PMID:12244321|PMID:23559409|PMID:25558065|PMID:28492532 11739828 NPHP4 nephrocystin 4 gene DOID:557 kidney disease ISO RGD:1351118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:12205563|PMID:15776426|PMID:21546380|PMID:22773737|PMID:23217326|PMID:23559409|PMID:25741868|PMID:28492532|PMID:29127258 11739828 NPHP4 nephrocystin 4 gene DOID:630 genetic disease ISO RGD:1351118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11739828 NPHP4 nephrocystin 4 gene DOID:8501 fundus dystrophy ISO RGD:1351118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15776426|PMID:21068128|PMID:21546380|PMID:25741868|PMID:28492532 11739828 NPHP4 nephrocystin 4 gene DOID:9000511 Senior-Loken Syndrome 4 ISO RGD:1351118 D RGD:7240710 20180130 OMIM 11739828 NPHP4 nephrocystin 4 gene DOID:9000511 Senior-Loken Syndrome 4 ISO RGD:1351118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 4 PMID:11920287|PMID:12205563|PMID:1248184|PMID:15776426|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:21068128|PMID:21546380|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23559409|PMID:24033266|PMID:25445212|PMID:25472526|PMID:25741868|PMID:26346198|PMID:26920127|PMID:27004616|PMID:27491411|PMID:28492532|PMID:29127258|PMID:34295353|PMID:6837691|PMID:9536098 11739828 NPHP4 nephrocystin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11739875 EXOSC7 exosome component 7 gene DOID:630 genetic disease ISO RGD:1320266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11739884 DPP8 dipeptidyl peptidase 8 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1322072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11739884 DPP8 dipeptidyl peptidase 8 gene DOID:2717 Bloom syndrome ISO RGD:1322072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11739884 DPP8 dipeptidyl peptidase 8 gene DOID:630 genetic disease ISO RGD:1322072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11739884 DPP8 dipeptidyl peptidase 8 gene DOID:9256 colorectal cancer ISO RGD:1322072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 11739930 NDST2 N-deacetylase and N-sulfotransferase 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1312297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 11739930 NDST2 N-deacetylase and N-sulfotransferase 2 gene DOID:630 genetic disease ISO RGD:1312297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11739930 NDST2 N-deacetylase and N-sulfotransferase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11739948 STX8 syntaxin 8 gene DOID:10283 prostate cancer ISO RGD:731411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11739948 STX8 syntaxin 8 gene DOID:630 genetic disease ISO RGD:731411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11739960 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:1347335 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17157164 11739960 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1347335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11739960 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:10652 Alzheimer's disease ISO RGD:1347335 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:23948885|REF_RGD_ID:10413860 11739960 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:10762 portal hypertension ISO RGD:631409 D RGD:9068941 20200609 RGD mRNA:decreased expression:stomach (rat) PMID:19383083|REF_RGD_ID:5686823 11739960 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:219 colon cancer ISO RGD:1347335 D RGD:9068941 20220811 RGD protein:increased expression:colon (human) PMID:16774932|REF_RGD_ID:153305944 11739960 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:2773 contact dermatitis ISO RGD:1347335 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11739960 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1347335 D RGD:9068941 20220519 RGD protein:increased expression:liver (human) PMID:24796583|REF_RGD_ID:152177907 11739960 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1347335 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 11739960 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:630 genetic disease ISO RGD:1347335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11739960 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1347335 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood leukocyte: PMID:21417552|REF_RGD_ID:10402843 11739960 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1347335 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 11739960 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1347335 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:frontal cortex (human) PMID:20886841|REF_RGD_ID:10412651 11739960 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1347335 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood (human) PMID:16139532|REF_RGD_ID:10429075 11739960 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1553279 D RGD:9068941 20200609 RGD mRNA:increased expression:tibial plateaux (mouse) PMID:9497939|REF_RGD_ID:10412655 11739960 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1347335 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:23948885|REF_RGD_ID:10413860 11739960 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11739960 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:631409 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain (rat) PMID:21104931|REF_RGD_ID:5686396 11739960 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:9008138 Ductal Carcinoma ISO RGD:631409 D RGD:9068941 20200609 RGD PMID:19322027|REF_RGD_ID:5686847 11739960 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1347335 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 11739974 KMT2A lysine methyltransferase 2A gene DOID:0060017 CD3epsilon deficiency ISO RGD:1347719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11739974 KMT2A lysine methyltransferase 2A gene DOID:0060041 autism spectrum disorder ISO RGD:1347719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 11739974 KMT2A lysine methyltransferase 2A gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1347719 D RGD:9068941 20200609 RGD DNA:rearrangements PMID:8361504|REF_RGD_ID:1625285 11739974 KMT2A lysine methyltransferase 2A gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1347719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11739974 KMT2A lysine methyltransferase 2A gene DOID:0070052 autosomal dominant intellectual developmental disorder 22 ISO RGD:1347719 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 22 PMID:25741868 11739974 KMT2A lysine methyltransferase 2A gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:25574841 11739974 KMT2A lysine methyltransferase 2A gene DOID:0080690 RASopathy ISO RGD:1347719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11739974 KMT2A lysine methyltransferase 2A gene DOID:0081082 acute myelomonocytic leukemia ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8282816 11739974 KMT2A lysine methyltransferase 2A gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1347719 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:25741868|PMID:29255178 11739974 KMT2A lysine methyltransferase 2A gene DOID:0081330 glycogen storage disease Ib ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 11739974 KMT2A lysine methyltransferase 2A gene DOID:0110651 long QT syndrome 10 ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11739974 KMT2A lysine methyltransferase 2A gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1347719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11739974 KMT2A lysine methyltransferase 2A gene DOID:0111971 immunodeficiency 18 ISO RGD:1347719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11739974 KMT2A lysine methyltransferase 2A gene DOID:0111972 immunodeficiency 19 ISO RGD:1347719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11739974 KMT2A lysine methyltransferase 2A gene DOID:0111973 immunodeficiency 17 ISO RGD:1347719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11739974 KMT2A lysine methyltransferase 2A gene DOID:10283 prostate cancer ISO RGD:1347719 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland (human) PMID:24200674|REF_RGD_ID:9587761 11739974 KMT2A lysine methyltransferase 2A gene DOID:1037 lymphoid leukemia ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17463288 11739974 KMT2A lysine methyltransferase 2A gene DOID:1059 intellectual disability ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:29574747 11739974 KMT2A lysine methyltransferase 2A gene DOID:10907 microcephaly ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11739974 KMT2A lysine methyltransferase 2A gene DOID:11054 urinary bladder cancer ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 11739974 KMT2A lysine methyltransferase 2A gene DOID:1240 leukemia ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11731795|PMID:12937054 11739974 KMT2A lysine methyltransferase 2A gene DOID:12849 autistic disorder ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 11739974 KMT2A lysine methyltransferase 2A gene DOID:224 transient cerebral ischemia treatment ISO RGD:1586165 D RGD:9068941 20230209 RGD PMID:34694864|REF_RGD_ID:155888565 11739974 KMT2A lysine methyltransferase 2A gene DOID:2671 transitional cell carcinoma ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 11739974 KMT2A lysine methyltransferase 2A gene DOID:299 adenocarcinoma ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22484628 11739974 KMT2A lysine methyltransferase 2A gene DOID:3948 adrenocortical carcinoma ISO RGD:1347719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma PMID:22795537|PMID:25356970|PMID:25741868|PMID:25810209|PMID:27959697|PMID:28330790|PMID:28492532|PMID:28600779|PMID:29574747 11739974 KMT2A lysine methyltransferase 2A gene DOID:4362 cervical cancer ISO RGD:1347719 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:22926525|REF_RGD_ID:9588221 11739974 KMT2A lysine methyltransferase 2A gene DOID:4971 myelofibrosis exacerbates ISO RGD:1347719 D RGD:9068941 20230330 RGD DNA:mutations:multiple (human) PMID:35731275|REF_RGD_ID:156420157 11739974 KMT2A lysine methyltransferase 2A gene DOID:5409 lung small cell carcinoma ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941188 11739974 KMT2A lysine methyltransferase 2A gene DOID:630 genetic disease ISO RGD:1347719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22795537|PMID:25356970|PMID:25741868|PMID:25810209|PMID:27759909|PMID:27959697|PMID:28330790|PMID:28492532|PMID:28600779|PMID:29453417|PMID:29574747|PMID:30138938 11739974 KMT2A lysine methyltransferase 2A gene DOID:684 hepatocellular carcinoma ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22634756 11739974 KMT2A lysine methyltransferase 2A gene DOID:8692 myeloid leukemia ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17463288|PMID:8282816 11739974 KMT2A lysine methyltransferase 2A gene DOID:8864 acute monocytic leukemia ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8282816 11739974 KMT2A lysine methyltransferase 2A gene DOID:9000217 Stomach Neoplasms ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22484628 11739974 KMT2A lysine methyltransferase 2A gene DOID:9000647 Acute Erythroleukemia ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926971 11739974 KMT2A lysine methyltransferase 2A gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:29255178 11739974 KMT2A lysine methyltransferase 2A gene DOID:9002112 Growth Deficiency and Mental Retardation with Facial Dysmorphism ISO RGD:1347719 D RGD:7240710 20180130 OMIM 11739974 KMT2A lysine methyltransferase 2A gene DOID:9002112 Growth Deficiency and Mental Retardation with Facial Dysmorphism ISO RGD:1347719 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Wiedemann-Steiner syndrome PMID:18414213|PMID:22795537|PMID:24088041|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25574841|PMID:25724810|PMID:25741868|PMID:25741869|PMID:25810209|PMID:26633545|PMID:26690532|PMID:27441994|PMID:27959697|PMID:28120103|PMID:28330790|PMID:28492532|PMID:28600779|PMID:29203834|PMID:29255178|PMID:29453417|PMID:29574747|PMID:30305169|PMID:31157197|PMID:31337854|PMID:32860008|PMID:33004838|PMID:5519603 11739974 KMT2A lysine methyltransferase 2A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11739974 KMT2A lysine methyltransferase 2A gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11739974 KMT2A lysine methyltransferase 2A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11739974 KMT2A lysine methyltransferase 2A gene DOID:9004507 Hirsutism ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirsutism 11739974 KMT2A lysine methyltransferase 2A gene DOID:9004814 Chromosome Aberrations ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24736461 11739974 KMT2A lysine methyltransferase 2A gene DOID:9005985 Rubinstein Taybi like Syndrome ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rubinstein Taybi like syndrome PMID:30806792 11739974 KMT2A lysine methyltransferase 2A gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10900 D RGD:9068941 20230209 RGD protein:increased expression:kidney (mouse) PMID:31570196|REF_RGD_ID:155888490 11739974 KMT2A lysine methyltransferase 2A gene DOID:9007661 Dwarfism ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11739974 KMT2A lysine methyltransferase 2A gene DOID:9119 acute myeloid leukemia ISO RGD:10900 D RGD:9068941 20220825 MouseDO OMIM:601626 11739974 KMT2A lysine methyltransferase 2A gene DOID:9119 acute myeloid leukemia ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10339604|PMID:26237430 11739974 KMT2A lysine methyltransferase 2A gene DOID:9119 acute myeloid leukemia ISO RGD:1347719 D RGD:9068941 20200609 RGD DNA:rearrangements PMID:8361504|REF_RGD_ID:1625285 11739974 KMT2A lysine methyltransferase 2A gene DOID:9119 acute myeloid leukemia ameliorates ISO RGD:10900 D RGD:9068941 20230209 RGD PMID:26927674|REF_RGD_ID:11530086 11739974 KMT2A lysine methyltransferase 2A gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1347719 D RGD:9068941 20230209 RGD human cell line in a mouse model PMID:33542482|REF_RGD_ID:155888491 11739974 KMT2A lysine methyltransferase 2A gene DOID:93 language disorder ISO RGD:1347719 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Language disorder PMID:25741868 11739974 KMT2A lysine methyltransferase 2A gene DOID:9952 acute lymphoblastic leukemia ISO RGD:10900 D RGD:9068941 20220825 MouseDO OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 11739974 KMT2A lysine methyltransferase 2A gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24736461|PMID:25730765 11740018 GPR18 G protein-coupled receptor 18 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1344300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 11740018 GPR18 G protein-coupled receptor 18 gene DOID:4621 holoprosencephaly ISO RGD:1344300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 11740018 GPR18 G protein-coupled receptor 18 gene DOID:630 genetic disease ISO RGD:1344300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11740018 GPR18 G protein-coupled receptor 18 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1344300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11740028 USP2 ubiquitin specific peptidase 2 gene DOID:0060017 CD3epsilon deficiency ISO RGD:731337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 11740028 USP2 ubiquitin specific peptidase 2 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:731337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11740028 USP2 ubiquitin specific peptidase 2 gene DOID:0080690 RASopathy ISO RGD:731337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11740028 USP2 ubiquitin specific peptidase 2 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:731337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 11740028 USP2 ubiquitin specific peptidase 2 gene DOID:0111971 immunodeficiency 18 ISO RGD:731337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 11740028 USP2 ubiquitin specific peptidase 2 gene DOID:0111972 immunodeficiency 19 ISO RGD:731337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 11740028 USP2 ubiquitin specific peptidase 2 gene DOID:0111973 immunodeficiency 17 ISO RGD:731337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 11740028 USP2 ubiquitin specific peptidase 2 gene DOID:5419 schizophrenia ISO RGD:731337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11740028 USP2 ubiquitin specific peptidase 2 gene DOID:630 genetic disease ISO RGD:731337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11740028 USP2 ubiquitin specific peptidase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:731337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 11740028 USP2 ubiquitin specific peptidase 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:731337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11740028 USP2 ubiquitin specific peptidase 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:731337 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Facial hypotonia 11740028 USP2 ubiquitin specific peptidase 2 gene DOID:9007661 Dwarfism ISO RGD:731337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11740054 HMGN3 high mobility group nucleosomal binding domain 3 gene DOID:630 genetic disease ISO RGD:1352330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11740054 HMGN3 high mobility group nucleosomal binding domain 3 gene DOID:9269 maple syrup urine disease ISO RGD:1352330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:16786533|PMID:22593002|PMID:24571530|PMID:28492532 11740077 GPR4 G protein-coupled receptor 4 gene DOID:630 genetic disease ISO RGD:1323148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11740121 URB2 URB2 ribosome biogenesis homolog gene DOID:10283 prostate cancer ISO RGD:1346688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11740121 URB2 URB2 ribosome biogenesis homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1346688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11740121 URB2 URB2 ribosome biogenesis homolog gene DOID:1826 epilepsy ISO RGD:1346688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 11740121 URB2 URB2 ribosome biogenesis homolog gene DOID:630 genetic disease ISO RGD:1346688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11740121 URB2 URB2 ribosome biogenesis homolog gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1346688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 11740121 URB2 URB2 ribosome biogenesis homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11740134 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1343012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I 11740134 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1343012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11740134 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1343012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 11740134 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11740134 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0080436 developmental and epileptic encephalopathy 4 ISO RGD:1343012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4 PMID:25741868 11740134 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1343012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11740134 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1343012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 11740134 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0110169 Charcot-Marie-Tooth disease axonal type 2P ISO RGD:1343012 D RGD:7240710 20180130 OMIM 11740134 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0110169 Charcot-Marie-Tooth disease axonal type 2P ISO RGD:1343012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2P PMID:14985381|PMID:16199547|PMID:17576681|PMID:20865121|PMID:22012984|PMID:22781092|PMID:24894446|PMID:25741868|PMID:26392352|PMID:26752306|PMID:26900582|PMID:27164712|PMID:27462242|PMID:27615052|PMID:27686364|PMID:28286897|PMID:28335037|PMID:28492532|PMID:28600779|PMID:29341362|PMID:29417091|PMID:29845787|PMID:3022865|PMID:30996334|PMID:31852984|PMID:32376792|PMID:33414056|PMID:33568173|PMID:9536098 11740134 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11740134 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1343012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:16199547|PMID:17576681|PMID:20865121|PMID:22012984|PMID:22781092|PMID:24894446|PMID:25741868|PMID:26752306|PMID:28286897|PMID:28335037|PMID:28492532|PMID:29417091|PMID:29845787|PMID:32376792|PMID:33414056|PMID:9536098 11740134 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:630 genetic disease ISO RGD:1343012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20865121|PMID:22012984|PMID:25741868|PMID:26392352|PMID:26752306|PMID:27462242|PMID:28335037|PMID:28492532|PMID:28600779|PMID:29417091|PMID:30996334|PMID:32376792|PMID:33414056|PMID:9536098 11740134 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:9003332 Charcot-Marie-Tooth Disease Type 4A, Axonal Form ISO RGD:1343012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22781092|PMID:27686364 11740214 DCAF4L2 DDB1 and CUL4 associated factor 4 like 2 gene DOID:630 genetic disease ISO RGD:1606458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11740214 DCAF4L2 DDB1 and CUL4 associated factor 4 like 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1606458 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11740219 TRADD TNFRSF1A associated via death domain gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1350695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11740219 TRADD TNFRSF1A associated via death domain gene DOID:0110255 cataract 5 multiple types ISO RGD:1350695 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 11740219 TRADD TNFRSF1A associated via death domain gene DOID:630 genetic disease ISO RGD:1350695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11740219 TRADD TNFRSF1A associated via death domain gene DOID:684 hepatocellular carcinoma ISO RGD:1350695 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 11740219 TRADD TNFRSF1A associated via death domain gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:621313 D RGD:9068941 20200609 RGD PMID:23423194|REF_RGD_ID:8661760 11740219 TRADD TNFRSF1A associated via death domain gene DOID:9008091 Optic Nerve Injuries ISO RGD:621313 D RGD:9068941 20200609 RGD protein:increased expression: retina PMID:18552980|REF_RGD_ID:7794683 11740237 DHX15 DEAH-box helicase 15 gene DOID:630 genetic disease ISO RGD:1317633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11740237 DHX15 DEAH-box helicase 15 gene DOID:9119 acute myeloid leukemia ISO RGD:1317633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27798625|PMID:29163777 11740255 CCND2 cyclin D2 gene DOID:0050912 colon adenoma severity ISO RGD:730903 D RGD:9068941 20220311 RGD PMID:11375949|REF_RGD_ID:151665121 11740255 CCND2 cyclin D2 gene DOID:0050989 episodic ataxia type 1 ISO RGD:730903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 11740255 CCND2 cyclin D2 gene DOID:0060074 ductal carcinoma in situ ISO RGD:730903 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter, breast PMID:14601057|REF_RGD_ID:2289156 11740255 CCND2 cyclin D2 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:730903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11740255 CCND2 cyclin D2 gene DOID:0080924 bilateral perisylvian polymicrogyria ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29642246 11740255 CCND2 cyclin D2 gene DOID:10283 prostate cancer ISO RGD:730903 D RGD:9068941 20200609 RGD DNA, mRNA:hyperymethylation, decreased expression:promoter, prostate gland PMID:17016690|REF_RGD_ID:2289151 11740255 CCND2 cyclin D2 gene DOID:10283 prostate cancer disease_progression ISO RGD:736624 D RGD:9068941 20220317 RGD PMID:16322291|REF_RGD_ID:151665170 11740255 CCND2 cyclin D2 gene DOID:10534 stomach cancer ISO RGD:730903 D RGD:9068941 20220310 RGD protein:increased expression:stomach PMID:11552926|REF_RGD_ID:151665103 11740255 CCND2 cyclin D2 gene DOID:10534 stomach cancer disease_progression ISO RGD:730903 D RGD:9068941 20220310 RGD PMID:25960238|REF_RGD_ID:151665106 11740255 CCND2 cyclin D2 gene DOID:10534 stomach cancer severity ISO RGD:730903 D RGD:9068941 20220310 RGD PMID:10666388|REF_RGD_ID:151665101 11740255 CCND2 cyclin D2 gene DOID:10908 hydrocephalus ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29642246 11740255 CCND2 cyclin D2 gene DOID:10952 nephritis ISO RGD:621083 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney cortex PMID:15654821|REF_RGD_ID:2289180 11740255 CCND2 cyclin D2 gene DOID:1591 renovascular hypertension ISO RGD:621083 D RGD:9068941 20220310 RGD protein:increased expression:left ventricle: PMID:26300251|REF_RGD_ID:151664604 11740255 CCND2 cyclin D2 gene DOID:1612 breast cancer disease_progression ISO RGD:730903 D RGD:9068941 20220310 RGD PMID:30308939|REF_RGD_ID:151665105 11740255 CCND2 cyclin D2 gene DOID:1686 glaucoma ISO RGD:621083 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:18055803|REF_RGD_ID:2289160 11740255 CCND2 cyclin D2 gene DOID:1826 epilepsy ISO RGD:730903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:24705253|PMID:25741868|PMID:28492532|PMID:31056854|PMID:33818783 11740255 CCND2 cyclin D2 gene DOID:1875 impotence ISO RGD:621083 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:penis PMID:18068478|REF_RGD_ID:2289159 11740255 CCND2 cyclin D2 gene DOID:2043 hepatitis B ISO RGD:730903 D RGD:9068941 20220310 RGD mRNA:decreased expression:Peripheral Blood Mononuclear Cell PMID:33320844|REF_RGD_ID:151664743 11740255 CCND2 cyclin D2 gene DOID:2043 hepatitis B disease_progression ISO RGD:730903 D RGD:9068941 20220310 RGD DNA:SNP, haplotype:exon :rs1049606(human) PMID:20414251|REF_RGD_ID:151664744 11740255 CCND2 cyclin D2 gene DOID:2154 nephroblastoma ISO RGD:730903 D RGD:9068941 20200609 RGD PMID:15797629|REF_RGD_ID:2289153 11740255 CCND2 cyclin D2 gene DOID:219 colon cancer ISO RGD:621083 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:15059925|REF_RGD_ID:2289181 11740255 CCND2 cyclin D2 gene DOID:2671 transitional cell carcinoma ISO RGD:621083 D RGD:9068941 20200609 RGD DNA:hypermethylation:urinary bladder, urine PMID:17017434|REF_RGD_ID:2289150 11740255 CCND2 cyclin D2 gene DOID:2671 transitional cell carcinoma ISO RGD:730903 D RGD:9068941 20200609 RGD DNA:hypermethylation:urinary bladder, urine PMID:17017434|REF_RGD_ID:2289150 11740255 CCND2 cyclin D2 gene DOID:2671 transitional cell carcinoma ISO RGD:730904 D RGD:9068941 20200609 RGD DNA:hypermethylation:urinary bladder, urine PMID:17017434|REF_RGD_ID:2289150 11740255 CCND2 cyclin D2 gene DOID:2999 granulosa cell tumor ISO RGD:730903 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:11994539|REF_RGD_ID:2289157 11740255 CCND2 cyclin D2 gene DOID:3304 germinoma ISO RGD:730903 D RGD:9068941 20200609 RGD PMID:17167184|REF_RGD_ID:2296039 11740255 CCND2 cyclin D2 gene DOID:3457 invasive lobular carcinoma ISO RGD:730903 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter, breast PMID:14601057|REF_RGD_ID:2289156 11740255 CCND2 cyclin D2 gene DOID:3571 liver cancer disease_progression ISO RGD:730903 D RGD:9068941 20220310 RGD PMID:30308939|REF_RGD_ID:151665105 11740255 CCND2 cyclin D2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:730903 D RGD:9068941 20220310 RGD DNA:hypermethylation:promoter PMID:30308939|REF_RGD_ID:151665105 11740255 CCND2 cyclin D2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730903 D RGD:9068941 20220310 RGD mRNA:increased expression:lung PMID:31253987|REF_RGD_ID:151665100 11740255 CCND2 cyclin D2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730903 D RGD:9068941 20220310 RGD protein:increased expression:lung PMID:30227870|REF_RGD_ID:151665108 11740255 CCND2 cyclin D2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:730903 D RGD:9068941 20220310 RGD PMID:30308939|REF_RGD_ID:151665105 11740255 CCND2 cyclin D2 gene DOID:4440 seminoma ISO RGD:730903 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:testis PMID:15747581|REF_RGD_ID:2289154 11740255 CCND2 cyclin D2 gene DOID:5082 liver cirrhosis ISO RGD:730903 D RGD:9068941 20220310 RGD associated with hepatitis B;mRNA:decreased expression:Peripheral Blood Mononuclear Cell PMID:33320844|REF_RGD_ID:151664743 11740255 CCND2 cyclin D2 gene DOID:5517 stomach carcinoma disease_progression ISO RGD:730903 D RGD:9068941 20220324 RGD PMID:14612939|PMID:9778110|REF_RGD_ID:151665142|REF_RGD_ID:151665349 11740255 CCND2 cyclin D2 gene DOID:5517 stomach carcinoma severity ISO RGD:730903 D RGD:9068941 20220311 RGD PMID:14612939|REF_RGD_ID:151665142 11740255 CCND2 cyclin D2 gene DOID:630 genetic disease ISO RGD:730903 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17486076|PMID:24705253|PMID:25741868|PMID:26795593 11740255 CCND2 cyclin D2 gene DOID:684 hepatocellular carcinoma ISO RGD:730903 D RGD:9068941 20220310 RGD DNA:hypermethylation:CpG site PMID:31059558|REF_RGD_ID:151665109 11740255 CCND2 cyclin D2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:730903 D RGD:9068941 20220310 RGD associated with hepatitis B PMID:33320844|REF_RGD_ID:151664743 11740255 CCND2 cyclin D2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:730903 D RGD:9068941 20220310 RGD associated with hepatitis B PMID:33320844|REF_RGD_ID:151664743 11740255 CCND2 cyclin D2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:730903 D RGD:9068941 20220317 RGD associated with Chronic Hepatitis C;DNA:SNP: :rs1049606(human) PMID:22004425|REF_RGD_ID:151665169 11740255 CCND2 cyclin D2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:730903 D RGD:9068941 20220310 RGD associated with colorectal cancer;protein:increased expression:colorectum PMID:19508551|REF_RGD_ID:151665111 11740255 CCND2 cyclin D2 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:730903 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:testis PMID:11358847|REF_RGD_ID:2296041 11740255 CCND2 cyclin D2 gene DOID:9000784 Fibrosis ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16306446 11740255 CCND2 cyclin D2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730903 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;DNA:hypermethylated:brain PMID:15131050|REF_RGD_ID:2289155 11740255 CCND2 cyclin D2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17016690 11740255 CCND2 cyclin D2 gene DOID:9002403 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24705253|PMID:29642246 11740255 CCND2 cyclin D2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17270028 11740255 CCND2 cyclin D2 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:730903 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:17270028|REF_RGD_ID:2296038 11740255 CCND2 cyclin D2 gene DOID:9002928 Colonic Neoplasms ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 11740255 CCND2 cyclin D2 gene DOID:9003041 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 ISO RGD:730903 D RGD:7240710 20180130 OMIM 11740255 CCND2 cyclin D2 gene DOID:9003041 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 ISO RGD:730903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 PMID:17486076|PMID:24705253|PMID:25741868|PMID:26795593|PMID:28492532|PMID:31056854|PMID:33818783 11740255 CCND2 cyclin D2 gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29642246 11740255 CCND2 cyclin D2 gene DOID:9003816 Macrocephaly ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29642246 11740255 CCND2 cyclin D2 gene DOID:9003936 Cardiomegaly ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15576649 11740255 CCND2 cyclin D2 gene DOID:9004017 Chronic Hepatitis C ISO RGD:730903 D RGD:9068941 20200626 RGD mRNA:increased expression:CD19+Bcell: PMID:20189883|REF_RGD_ID:32716380 11740255 CCND2 cyclin D2 gene DOID:9004207 Testicular Neoplasms ISO RGD:730903 D RGD:9068941 20200609 RGD mRNA:increased expression:testis PMID:15800920|REF_RGD_ID:2289152 11740255 CCND2 cyclin D2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:621083 D RGD:9068941 20220310 RGD protein:increased expression:left ventricle: PMID:26300251|REF_RGD_ID:151664604 11740255 CCND2 cyclin D2 gene DOID:9006618 Liver Metastasis ISO RGD:730903 D RGD:9068941 20220310 RGD associated with colorectal cancer;protein:increased expression:colorectum PMID:19508551|REF_RGD_ID:151665111 11740255 CCND2 cyclin D2 gene DOID:9007102 Myocardial Ischemia ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11740255 CCND2 cyclin D2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:730903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11740255 CCND2 cyclin D2 gene DOID:9008114 Helicobacter Infections ISO RGD:730903 D RGD:9068941 20220311 RGD mRNA:increased expression:stomach: PMID:12133540|REF_RGD_ID:151665119 11740255 CCND2 cyclin D2 gene DOID:9008114 Helicobacter Infections treatment ISO RGD:730903 D RGD:9068941 20220310 RGD associated with Gastrointestinal Neoplasms or gastritis PMID:11552926|REF_RGD_ID:151665103 11740255 CCND2 cyclin D2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 11740255 CCND2 cyclin D2 gene DOID:9008939 Breast Neoplasms ISO RGD:730903 D RGD:9068941 20200609 RGD DNA, mRNA, protein:hypermethylation, decreased expression:promoter, breast PMID:11289162|REF_RGD_ID:2289158 11740255 CCND2 cyclin D2 gene DOID:9008939 Breast Neoplasms ISO RGD:730903 D RGD:9068941 20200609 RGD DNA:hypermethylation:breast PMID:17549626|REF_RGD_ID:2289149 11740255 CCND2 cyclin D2 gene DOID:9119 acute myeloid leukemia ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27798625 11740255 CCND2 cyclin D2 gene DOID:9256 colorectal cancer ISO RGD:730903 D RGD:9068941 20220310 RGD mRNA, protein:increased expression:colorectum PMID:28933597|PMID:31511084|REF_RGD_ID:151664740|REF_RGD_ID:151664741 11740255 CCND2 cyclin D2 gene DOID:9256 colorectal cancer severity ISO RGD:730903 D RGD:9068941 20220310 RGD PMID:19508551|REF_RGD_ID:151665111 11740255 CCND2 cyclin D2 gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:730903 D RGD:9068941 20220324 RGD PMID:20473882|REF_RGD_ID:151665334 11740255 CCND2 cyclin D2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24464100 11740255 CCND2 cyclin D2 gene DOID:9538 multiple myeloma ISO RGD:730903 D RGD:9068941 20200609 RGD PMID:15755896|REF_RGD_ID:1581171 11740283 SERPINB4 serpin family B member 4 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1351173 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11740283 SERPINB4 serpin family B member 4 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1351173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 11740283 SERPINB4 serpin family B member 4 gene DOID:10283 prostate cancer ISO RGD:1351173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11740283 SERPINB4 serpin family B member 4 gene DOID:2773 contact dermatitis ISO RGD:1351173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11740283 SERPINB4 serpin family B member 4 gene DOID:630 genetic disease ISO RGD:1351173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11740283 SERPINB4 serpin family B member 4 gene DOID:9003281 Spontaneous Abortions ISO RGD:1351173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11740292 CYP39A1 cytochrome P450 family 39 subfamily A member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1316685 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11740292 CYP39A1 cytochrome P450 family 39 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1316685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11740292 CYP39A1 cytochrome P450 family 39 subfamily A member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1316685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11740429 MMGT1 membrane magnesium transporter 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11740429 MMGT1 membrane magnesium transporter 1 gene DOID:12849 autistic disorder ISO RGD:1343591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11740429 MMGT1 membrane magnesium transporter 1 gene DOID:630 genetic disease ISO RGD:1343591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11740451 LOXHD1 lipoxygenase homology PLAT domains 1 gene DOID:0050563 nonsyndromic deafness ISO RGD:1312479 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness PMID:19732867|PMID:21465660|PMID:22975204|PMID:23226338|PMID:24033266|PMID:25741868|PMID:25792669|PMID:26969326|PMID:28000701|PMID:28492532|PMID:29676012|PMID:30311386|PMID:31152317|PMID:31547530|PMID:32860223|PMID:33753533|PMID:33892339 11740451 LOXHD1 lipoxygenase homology PLAT domains 1 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1312479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:16199547|PMID:19732867|PMID:21465660|PMID:25741868|PMID:25792669|PMID:28000701|PMID:28492532|PMID:30311386 11740451 LOXHD1 lipoxygenase homology PLAT domains 1 gene DOID:0050567 orofacial cleft susceptibility ISO RGD:1312479 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs1450425 (human) PMID:27242896|REF_RGD_ID:13204730 11740451 LOXHD1 lipoxygenase homology PLAT domains 1 gene DOID:0060356 Vici syndrome ISO RGD:1312479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 11740451 LOXHD1 lipoxygenase homology PLAT domains 1 gene DOID:0080046 Stickler syndrome ISO RGD:1312479 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Stickler syndrome PMID:28492532|PMID:30311386 11740451 LOXHD1 lipoxygenase homology PLAT domains 1 gene DOID:0110525 autosomal recessive nonsyndromic deafness 77 ISO RGD:1312479 D RGD:7240710 20180130 OMIM 11740451 LOXHD1 lipoxygenase homology PLAT domains 1 gene DOID:0110525 autosomal recessive nonsyndromic deafness 77 ISO RGD:1312479 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 77 PMID:16199547|PMID:16936105|PMID:17576681|PMID:19732867|PMID:21465660|PMID:22341973|PMID:22975204|PMID:23226338|PMID:23804846|PMID:23897863|PMID:24033266|PMID:25251670|PMID:25333069|PMID:25741868|PMID:25792669|PMID:25938503|PMID:26346818|PMID:26467025|PMID:26763877|PMID:26969326|PMID:26973026|PMID:27068579|PMID:27246798|PMID:27959697|PMID:27984600|PMID:28000701|PMID:28383030|PMID:28492532|PMID:29309402|PMID:29669943|PMID:29676012|PMID:29799290|PMID:29907799|PMID:30123251|PMID:30311386|PMID:31152317|PMID:31547530|PMID:31709873|PMID:31827275|PMID:32279305|PMID:32682410|PMID:32860223|PMID:33753533|PMID:33892339|PMID:34171171|PMID:35711932|PMID:35802133|PMID:36633841|PMID:9536098 11740451 LOXHD1 lipoxygenase homology PLAT domains 1 gene DOID:1059 intellectual disability ISO RGD:1312479 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11740451 LOXHD1 lipoxygenase homology PLAT domains 1 gene DOID:11555 Fuchs' endothelial dystrophy ISO RGD:1312479 D RGD:9068941 20200609 RGD DNA:missense mutations: :multiple PMID:22341973|REF_RGD_ID:11072687 11740451 LOXHD1 lipoxygenase homology PLAT domains 1 gene DOID:630 genetic disease ISO RGD:1312479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386 11740451 LOXHD1 lipoxygenase homology PLAT domains 1 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1312479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 11740451 LOXHD1 lipoxygenase homology PLAT domains 1 gene DOID:9004538 Hearing Loss ISO RGD:1312479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:16199547|PMID:19732867|PMID:21465660|PMID:22341973|PMID:23804846|PMID:24033266|PMID:25741868|PMID:25792669|PMID:28000701|PMID:28492532|PMID:29309402|PMID:30311386|PMID:32682410 11740451 LOXHD1 lipoxygenase homology PLAT domains 1 gene DOID:9008681 Deafness ISO RGD:1312479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:25741868 11740501 LOC100968722 chronophin gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1314801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11740501 LOC100968722 chronophin gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1314801 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11740501 LOC100968722 chronophin gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1314801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11740501 LOC100968722 chronophin gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1314801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11740501 LOC100968722 chronophin gene DOID:630 genetic disease ISO RGD:1314801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11740523 NAB1 NGFI-A binding protein 1 gene DOID:0111944 immunodeficiency 31B ISO RGD:736700 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 11740523 NAB1 NGFI-A binding protein 1 gene DOID:630 genetic disease ISO RGD:736700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11740523 NAB1 NGFI-A binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11740549 RAB11B RAB11B, member RAS oncogene family gene DOID:0080490 mucolipidosis type IV ISO RGD:68529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 11740549 RAB11B RAB11B, member RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:68529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11740549 RAB11B RAB11B, member RAS oncogene family gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:68529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11740549 RAB11B RAB11B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:68529 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29106825 11740549 RAB11B RAB11B, member RAS oncogene family gene DOID:9009096 Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter ISO RGD:68529 D RGD:7240710 20190315 OMIM 11740549 RAB11B RAB11B, member RAS oncogene family gene DOID:9009096 Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter ISO RGD:68529 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter PMID:17576681|PMID:25741868|PMID:28492532|PMID:29106825|PMID:9536098 11740558 ZNF701 zinc finger protein 701 gene DOID:630 genetic disease ISO RGD:1603988 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11740565 MED23 mediator complex subunit 23 gene DOID:0081190 autosomal recessive intellectual developmental disorder 18 ISO RGD:1316995 D RGD:7240710 20180130 OMIM 11740565 MED23 mediator complex subunit 23 gene DOID:0081190 autosomal recessive intellectual developmental disorder 18 ISO RGD:1316995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 18 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 18, WITH OR WITHOUT EPILEPSY PMID:21868677|PMID:25741868|PMID:25845469|PMID:27311965|PMID:28492532|PMID:30171209|PMID:30847200|PMID:31164858 11740565 MED23 mediator complex subunit 23 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1316995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 11740565 MED23 mediator complex subunit 23 gene DOID:1059 intellectual disability ISO RGD:1316995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome PMID:25741868 11740565 MED23 mediator complex subunit 23 gene DOID:630 genetic disease ISO RGD:1316995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10502833|PMID:12052859|PMID:21802329|PMID:25741868|PMID:28492532|PMID:29726057|PMID:31164858|PMID:7649538 11740565 MED23 mediator complex subunit 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11740565 MED23 mediator complex subunit 23 gene DOID:9278 hyperargininemia ISO RGD:1316995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arginase deficiency | ClinVar Annotator: match by term: Argininemia PMID:10502833|PMID:11883902|PMID:12052859|PMID:1463019|PMID:15565656|PMID:1598908|PMID:16199547|PMID:17576681|PMID:18666241|PMID:18957279|PMID:19052914|PMID:19562505|PMID:19936428|PMID:21310339|PMID:21802329|PMID:22959135|PMID:22964440|PMID:2365823|PMID:23859858|PMID:24103480|PMID:24482476|PMID:24814679|PMID:25741868|PMID:26169240|PMID:27038030|PMID:27898091|PMID:28089752|PMID:28492532|PMID:29726057|PMID:30285816|PMID:31130284|PMID:32450233|PMID:32778825|PMID:33193012|PMID:624188|PMID:7649538|PMID:7981719|PMID:8902193|PMID:9536098 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:0050644 arterial calcification of infancy ISO RGD:1351327 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Idiopathic infantile arterial calcification PMID:10453738|PMID:10480624|PMID:11739459|PMID:11771660|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:16025115|PMID:16607460|PMID:16609882|PMID:16968801|PMID:18950909|PMID:20981035|PMID:24033266|PMID:25741868|PMID:27238374|PMID:28492532|PMID:29979387|PMID:35738466|PMID:9662402 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:0050949 autosomal recessive hypophosphatemic rickets ISO RGD:1351327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive PMID:10453738|PMID:11771660|PMID:16025115|PMID:16609882|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9662402 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:0060887 ossification of the posterior longitudinal ligament of spine ISO RGD:733393 D RGD:9068941 20220825 MouseDO OMIM:602475 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:0060887 ossification of the posterior longitudinal ligament of spine severity ISO RGD:1351327 D RGD:9068941 20200609 RGD DNA:deletion:intron:IVS20-11delT (human) PMID:15834329|REF_RGD_ID:13204732 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:0080333 aortic valve disease 1 ISO RGD:628825 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta (rat) PMID:22659116|REF_RGD_ID:12914785 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1351327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10480624|PMID:11739459|PMID:12881724|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:16025115|PMID:16607460|PMID:16968801|PMID:18950909|PMID:20137773|PMID:20981035|PMID:24033266|PMID:25741868|PMID:27238374|PMID:27467858|PMID:28492532|PMID:29979387|PMID:34609116|PMID:35738466 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:10754 otitis media ISO RGD:733393 D RGD:9068941 20220825 MouseDO OMIM:166760 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:1123 spondyloarthropathy ISO RGD:733393 D RGD:9068941 20220825 MouseDO OMIM:106300 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:1214 tympanosclerosis ISO RGD:733393 D RGD:9068941 20220825 MouseDO 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:1287 cardiovascular system disease ISO RGD:1351327 D RGD:9068941 20200609 RGD PMID:21282363|REF_RGD_ID:6906933 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:289 endometriosis ISO RGD:1351327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:3068 glioblastoma severity ISO RGD:1351327 D RGD:9068941 20200609 RGD protein:increased expression:brain (human) PMID:21195542|REF_RGD_ID:13204719 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:630 genetic disease ISO RGD:1351327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:783 end stage renal disease ISO RGD:1351327 D RGD:9068941 20200609 RGD Associated with Type 2 diabetes PMID:18184924|REF_RGD_ID:6906927 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:8398 osteoarthritis ISO RGD:733393 D RGD:9068941 20220825 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9000815 Aortic Calcification ISO RGD:733393 D RGD:9068941 20200609 RGD PMID:15625282|REF_RGD_ID:13204716 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9000869 Cole Disease ISO RGD:1351327 D RGD:7240710 20230510 OMIM 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9000869 Cole Disease ISO RGD:1351327 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cole disease PMID:10453738|PMID:10480624|PMID:11739459|PMID:11771660|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:16025115|PMID:16607460|PMID:16609882|PMID:16968801|PMID:18950909|PMID:19380683|PMID:20981035|PMID:24033266|PMID:24075184|PMID:25741868|PMID:27238374|PMID:28492532|PMID:29979387|PMID:35738466|PMID:9662402 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9001198 Hypophosphatemic Rickets, Autosomal Recessive, 2 ISO RGD:1351327 D RGD:7240710 20230510 OMIM 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9001198 Hypophosphatemic Rickets, Autosomal Recessive, 2 ISO RGD:1351327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2 PMID:10453738|PMID:10480624|PMID:11739459|PMID:11771660|PMID:12881724|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:15605415|PMID:15677494|PMID:16025115|PMID:16315058|PMID:16607460|PMID:16609882|PMID:16968801|PMID:18950909|PMID:19229237|PMID:20016754|PMID:20137772|PMID:20137773|PMID:20981035|PMID:24033266|PMID:25741868|PMID:26857895|PMID:27238374|PMID:27467858|PMID:28492532|PMID:28973083|PMID:29244957|PMID:29979387|PMID:31826312|PMID:33005041|PMID:34609116|PMID:35738466|PMID:8960499|PMID:9662402 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:1351327 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets PMID:10480624|PMID:11739459|PMID:12881724|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:16025115|PMID:16607460|PMID:16968801|PMID:18950909|PMID:20981035|PMID:25741868|PMID:27238374|PMID:28492532|PMID:29979387|PMID:35738466 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351327 D RGD:9068941 20200609 RGD PMID:19506043|REF_RGD_ID:6906926 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9002661 Diabetes Complications ISO RGD:1351327 D RGD:9068941 20200609 RGD Associated with obesity PMID:21282363|REF_RGD_ID:6906933 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9003781 Ossification of Posterior Longitudinal Ligament ISO RGD:1351327 D RGD:9068941 20200609 RGD OPLL,OMIM:602475;DNA:polymorphism PMID:10453738|REF_RGD_ID:1601041 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1351327 D RGD:9068941 20200609 RGD Associated with end stage renal disease PMID:21602183|REF_RGD_ID:6906934 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9006958 Generalized Arterial Calcification of Infancy, 1 ISO RGD:1351327 D RGD:7240710 20230510 OMIM 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9006958 Generalized Arterial Calcification of Infancy, 1 ISO RGD:1351327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 PMID:10453738|PMID:10480624|PMID:11159191|PMID:11739459|PMID:11771660|PMID:12881724|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:15605415|PMID:15677494|PMID:15940697|PMID:16025115|PMID:16315058|PMID:16369898|PMID:16607460|PMID:16609882|PMID:16968801|PMID:17576681|PMID:18950909|PMID:19206175|PMID:19229237|PMID:20016754|PMID:20137773|PMID:20981035|PMID:22209248|PMID:22539483|PMID:24033266|PMID:25326635|PMID:25741868|PMID:26857895|PMID:27238374|PMID:27467858|PMID:28492532|PMID:28973083|PMID:29141319|PMID:29244957|PMID:29979387|PMID:31444901|PMID:31805212|PMID:31826312|PMID:32573669|PMID:33005041|PMID:34609116|PMID:35738466|PMID:8960499|PMID:9536098|PMID:9662402 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9007096 Stroke susceptibility ISO RGD:1351327 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:missense mutation:cds:p.K173Q (human) PMID:23422753|REF_RGD_ID:13204735 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9007482 Bone Metastasis ISO RGD:1351327 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;mRNA:increased expression:bone element (human) PMID:23861746|REF_RGD_ID:13204736 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9007692 Insulin Resistance ISO RGD:1351327 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Insulin resistance, susceptibility to PMID:10480624|PMID:11739459|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:16025115|PMID:16607460|PMID:16968801|PMID:18950909|PMID:20981035|PMID:25741868|PMID:27238374|PMID:28492532|PMID:29979387|PMID:35738466 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9008221 Medial Coronary Sclerosis of Infancy ISO RGD:1351327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary sclerosis, medial, of infancy PMID:15940697|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9278 hyperargininemia ISO RGD:1351327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginase deficiency PMID:28492532 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351327 D RGD:7240710 20230510 OMIM 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351327 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10453738|PMID:10480624|PMID:11739459|PMID:11771660|PMID:12881724|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:16025115|PMID:16607460|PMID:16609882|PMID:16968801|PMID:18950909|PMID:20137773|PMID:20981035|PMID:24033266|PMID:25741868|PMID:27238374|PMID:27467858|PMID:28492532|PMID:29979387|PMID:34609116|PMID:35738466|PMID:9662402 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9970 obesity ISO RGD:1351327 D RGD:7240710 20230510 OMIM 11740602 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9970 obesity ISO RGD:1351327 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Obesity PMID:10453738|PMID:10480624|PMID:11739459|PMID:11771660|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:15677494|PMID:16025115|PMID:16607460|PMID:16609882|PMID:16968801|PMID:18950909|PMID:20981035|PMID:24033266|PMID:25741868|PMID:27238374|PMID:28492532|PMID:29979387|PMID:35738466|PMID:9662402 11740643 RAB13 RAB13, member RAS oncogene family gene DOID:0070048 GAND syndrome ISO RGD:733233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GAND SYNDROME PMID:21681106 11740643 RAB13 RAB13, member RAS oncogene family gene DOID:0080600 COVID-19 ISO RGD:733233 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11740643 RAB13 RAB13, member RAS oncogene family gene DOID:0111940 immunodeficiency 42 ISO RGD:733233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11740643 RAB13 RAB13, member RAS oncogene family gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:733233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11740643 RAB13 RAB13, member RAS oncogene family gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:733233 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11740643 RAB13 RAB13, member RAS oncogene family gene DOID:1540 parathyroid carcinoma ISO RGD:733233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11740643 RAB13 RAB13, member RAS oncogene family gene DOID:5812 MHC class II deficiency ISO RGD:733233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11740643 RAB13 RAB13, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:733233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11740643 RAB13 RAB13, member RAS oncogene family gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11740655 ARHGEF37 Rho guanine nucleotide exchange factor 37 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602402 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11740655 ARHGEF37 Rho guanine nucleotide exchange factor 37 gene DOID:630 genetic disease ISO RGD:1602402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11740655 ARHGEF37 Rho guanine nucleotide exchange factor 37 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11740655 ARHGEF37 Rho guanine nucleotide exchange factor 37 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602402 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11740671 CD300LF CD300 molecule like family member f gene DOID:630 genetic disease ISO RGD:1603897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11740685 CHRNB1 cholinergic receptor nicotinic beta 1 subunit gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:733898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11740685 CHRNB1 cholinergic receptor nicotinic beta 1 subunit gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:733898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C PMID:10562302|PMID:17576681|PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 11740685 CHRNB1 cholinergic receptor nicotinic beta 1 subunit gene DOID:0110680 congenital myasthenic syndrome 2C ISO RGD:733898 D RGD:7240710 20180822 OMIM 11740685 CHRNB1 cholinergic receptor nicotinic beta 1 subunit gene DOID:0110680 congenital myasthenic syndrome 2C ISO RGD:733898 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2C PMID:10562302|PMID:25741868|PMID:32504635|PMID:33060286 11740685 CHRNB1 cholinergic receptor nicotinic beta 1 subunit gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:733898 D RGD:7240710 20180314 OMIM 11740685 CHRNB1 cholinergic receptor nicotinic beta 1 subunit gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:733898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:10562302|PMID:14991812|PMID:16199547|PMID:17576681|PMID:17686188|PMID:18414213|PMID:20562457|PMID:25741868|PMID:26467025|PMID:27375219|PMID:27391121|PMID:28492532|PMID:8651643|PMID:8872460|PMID:9536098 11740685 CHRNB1 cholinergic receptor nicotinic beta 1 subunit gene DOID:1059 intellectual disability ISO RGD:733898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11740685 CHRNB1 cholinergic receptor nicotinic beta 1 subunit gene DOID:12177 common variable immunodeficiency ISO RGD:733898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11740685 CHRNB1 cholinergic receptor nicotinic beta 1 subunit gene DOID:2729 dyskeratosis congenita ISO RGD:733898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11740685 CHRNB1 cholinergic receptor nicotinic beta 1 subunit gene DOID:3012 Li-Fraumeni syndrome ISO RGD:733898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11740685 CHRNB1 cholinergic receptor nicotinic beta 1 subunit gene DOID:3635 congenital myasthenic syndrome ISO RGD:733898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive PMID:28492532 11740685 CHRNB1 cholinergic receptor nicotinic beta 1 subunit gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:733898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 11740685 CHRNB1 cholinergic receptor nicotinic beta 1 subunit gene DOID:630 genetic disease ISO RGD:733898 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 11740685 CHRNB1 cholinergic receptor nicotinic beta 1 subunit gene DOID:9008585 Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency ISO RGD:733898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11740707 ELOVL2 ELOVL fatty acid elongase 2 gene DOID:12336 male infertility ISO RGD:1318475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21106902 11740707 ELOVL2 ELOVL fatty acid elongase 2 gene DOID:630 genetic disease ISO RGD:1318475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11740722 RCN2 reticulocalbin 2 gene DOID:2717 Bloom syndrome ISO RGD:733014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11740722 RCN2 reticulocalbin 2 gene DOID:5419 schizophrenia ISO RGD:733014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11740722 RCN2 reticulocalbin 2 gene DOID:630 genetic disease ISO RGD:733014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11740722 RCN2 reticulocalbin 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11740722 RCN2 reticulocalbin 2 gene DOID:9256 colorectal cancer ISO RGD:733014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 11740733 MED22 mediator complex subunit 22 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1606332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11740733 MED22 mediator complex subunit 22 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1606332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11740733 MED22 mediator complex subunit 22 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1606332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11740733 MED22 mediator complex subunit 22 gene DOID:0081097 Rafiq syndrome ISO RGD:1606332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11740733 MED22 mediator complex subunit 22 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1606332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11740733 MED22 mediator complex subunit 22 gene DOID:3652 Leigh disease ISO RGD:1606332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11740733 MED22 mediator complex subunit 22 gene DOID:630 genetic disease ISO RGD:1606332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11740745 HILPDA hypoxia inducible lipid droplet associated gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1607036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11740745 HILPDA hypoxia inducible lipid droplet associated gene DOID:630 genetic disease ISO RGD:1607036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11740745 HILPDA hypoxia inducible lipid droplet associated gene DOID:684 hepatocellular carcinoma ISO RGD:1607036 D RGD:9068941 20220901 RGD human cells in mouse model PMID:31142329|REF_RGD_ID:153344574 11740745 HILPDA hypoxia inducible lipid droplet associated gene DOID:684 hepatocellular carcinoma ISO RGD:1607036 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:30205391|REF_RGD_ID:153344577 11740745 HILPDA hypoxia inducible lipid droplet associated gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1607036 D RGD:9068941 20220901 RGD mRNA, protein:increased expression:liver (human) PMID:31142329|REF_RGD_ID:153344574 11740745 HILPDA hypoxia inducible lipid droplet associated gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1607036 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 11740745 HILPDA hypoxia inducible lipid droplet associated gene DOID:9005172 Lung Neoplasms ISO RGD:1607036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 11740745 HILPDA hypoxia inducible lipid droplet associated gene DOID:9009121 lung metastasis ISO RGD:1607036 D RGD:9068941 20220901 RGD human cells in mouse model PMID:31142329|REF_RGD_ID:153344574 11740745 HILPDA hypoxia inducible lipid droplet associated gene DOID:9256 colorectal cancer ISO RGD:1607036 D RGD:9068941 20220901 RGD human cells in mouse model PMID:23916472|REF_RGD_ID:153344575 11740745 HILPDA hypoxia inducible lipid droplet associated gene DOID:9256 colorectal cancer disease_progression ISO RGD:1607036 D RGD:9068941 20220901 RGD mRNA:increased expression:colon (human) PMID:23916472|REF_RGD_ID:153344575 11740753 COLQ collagen like tail subunit of asymmetric acetylcholinesterase gene DOID:0060417 3p deletion syndrome ISO RGD:736660 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 11740753 COLQ collagen like tail subunit of asymmetric acetylcholinesterase gene DOID:0110667 congenital myasthenic syndrome 5 ISO RGD:736660 D RGD:7240710 20180130 OMIM 11740753 COLQ collagen like tail subunit of asymmetric acetylcholinesterase gene DOID:0110667 congenital myasthenic syndrome 5 ISO RGD:736660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 5 PMID:10441569|PMID:10665486|PMID:11865139|PMID:14702351|PMID:15034283|PMID:15159418|PMID:15248101|PMID:16009904|PMID:16199547|PMID:17576681|PMID:18180250|PMID:18414213|PMID:18567859|PMID:20370815|PMID:214017|PMID:21952943|PMID:22088788|PMID:22490774|PMID:22678886|PMID:22759693|PMID:22960500|PMID:23108489|PMID:23371844|PMID:23553736|PMID:24033266|PMID:24281389|PMID:25557462|PMID:25741868|PMID:26467025|PMID:27830186|PMID:28024842|PMID:28464723|PMID:28492532|PMID:29054425|PMID:29395675|PMID:30124556|PMID:31345272|PMID:32978031|PMID:33756069|PMID:34749429|PMID:34912755|PMID:8390325|PMID:9536098|PMID:9689136|PMID:9758617 11740753 COLQ collagen like tail subunit of asymmetric acetylcholinesterase gene DOID:3635 congenital myasthenic syndrome ISO RGD:736660 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital PMID:10441569|PMID:10665486|PMID:14702351|PMID:15159418|PMID:16199547|PMID:17576681|PMID:18180250|PMID:20370815|PMID:21952943|PMID:22088788|PMID:22678886|PMID:22960500|PMID:23371844|PMID:24033266|PMID:24281389|PMID:25557462|PMID:25741868|PMID:27830186|PMID:28024842|PMID:28464723|PMID:28492532|PMID:29054425|PMID:30124556|PMID:32978031|PMID:33756069|PMID:34749429|PMID:34912755|PMID:9536098|PMID:9689136|PMID:9758617 11740753 COLQ collagen like tail subunit of asymmetric acetylcholinesterase gene DOID:630 genetic disease ISO RGD:736660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11740753 COLQ collagen like tail subunit of asymmetric acetylcholinesterase gene DOID:856 biotinidase deficiency ISO RGD:736660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Biotinidase deficiency PMID:20083419|PMID:28492532 11740774 PTPA protein phosphatase 2 phosphatase activator gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1318076 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11740774 PTPA protein phosphatase 2 phosphatase activator gene DOID:630 genetic disease ISO RGD:1318076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11740774 PTPA protein phosphatase 2 phosphatase activator gene DOID:9000217 Stomach Neoplasms ISO RGD:1318076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11740774 PTPA protein phosphatase 2 phosphatase activator gene DOID:9000918 Disease Progression ISO RGD:1318076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11740805 SLAIN1 SLAIN motif family member 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1603921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11740805 SLAIN1 SLAIN motif family member 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10528251|PMID:20127975|PMID:20157158|PMID:22589734|PMID:28492532|PMID:30394532|PMID:31406620|PMID:32393339|PMID:8001159 11740805 SLAIN1 SLAIN motif family member 1 gene DOID:630 genetic disease ISO RGD:1603921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11740859 LOC100985737 secretoglobin family 1D member 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1351140 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11740859 LOC100985737 secretoglobin family 1D member 1 gene DOID:1059 intellectual disability ISO RGD:1351140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11740859 LOC100985737 secretoglobin family 1D member 1 gene DOID:630 genetic disease ISO RGD:1351140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11740866 ZNF708 zinc finger protein 708 gene DOID:630 genetic disease ISO RGD:1342692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11740875 ACO2 aconitase 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:733187 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11740875 ACO2 aconitase 2 gene DOID:0050883 infantile cerebellar-retinal degeneration ISO RGD:733187 D RGD:7240710 20180130 OMIM 11740875 ACO2 aconitase 2 gene DOID:0050883 infantile cerebellar-retinal degeneration ISO RGD:733187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration PMID:17576681|PMID:22405087|PMID:24088041|PMID:25351951|PMID:25741868|PMID:26992325|PMID:28492532|PMID:28545339|PMID:28559085|PMID:29564393|PMID:29577077|PMID:30689204|PMID:31130284|PMID:32214227|PMID:32449285|PMID:32519519|PMID:34056600|PMID:9536098 11740875 ACO2 aconitase 2 gene DOID:0080600 COVID-19 ISO RGD:733187 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11740875 ACO2 aconitase 2 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:733187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 11740875 ACO2 aconitase 2 gene DOID:0111442 optic atrophy 9 ISO RGD:733187 D RGD:7240710 20180130 OMIM 11740875 ACO2 aconitase 2 gene DOID:0111442 optic atrophy 9 ISO RGD:733187 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: ACO2-related disorder | ClinVar Annotator: match by term: OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Optic atrophy 9 PMID:25351951|PMID:25741868|PMID:28492532|PMID:30689204|PMID:32449285|PMID:32519519|PMID:34056600 11740875 ACO2 aconitase 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:733187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 11740875 ACO2 aconitase 2 gene DOID:630 genetic disease ISO RGD:733187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:30689204|PMID:32519519|PMID:34056600|PMID:9536098 11740875 ACO2 aconitase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:733187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11740875 ACO2 aconitase 2 gene DOID:8501 fundus dystrophy ISO RGD:733187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532|PMID:34056600 11740875 ACO2 aconitase 2 gene DOID:9008086 Developmental Disabilities ISO RGD:733187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11740902 CLOCK clock circadian regulator gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1348034 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 11740902 CLOCK clock circadian regulator gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1348034 D RGD:9068941 20200609 RGD DNA:snp:3' utr:c.3111T>C (human) PMID:23912676|REF_RGD_ID:10401872 11740902 CLOCK clock circadian regulator gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1348034 D RGD:9068941 20200609 RGD DNA:snp:intron:c.560-1279C>G (rs4580704) (human) PMID:23357097|REF_RGD_ID:10401862 11740902 CLOCK clock circadian regulator gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1348034 D RGD:9068941 20200609 RGD DNA:snp:intron:c.982+247G>C (rs1554483) (human) PMID:23781009|REF_RGD_ID:10401861 11740902 CLOCK clock circadian regulator gene DOID:10763 hypertension ISO RGD:620271 D RGD:9068941 20200609 RGD mRNA:altered expression:gastrocnemius muscle (rat) PMID:22076133|REF_RGD_ID:9686076 11740902 CLOCK clock circadian regulator gene DOID:13580 cholestasis ISO RGD:620271 D RGD:9068941 20200609 RGD mRNA:increased expression:cholangiocyte PMID:21757639|REF_RGD_ID:10043349 11740902 CLOCK clock circadian regulator gene DOID:2723 dermatitis ISO RGD:1552430 D RGD:9068941 20200609 RGD PMID:21149897|REF_RGD_ID:10401871 11740902 CLOCK clock circadian regulator gene DOID:3312 bipolar disorder ISO RGD:1552430 D RGD:9068941 20220825 MouseDO 11740902 CLOCK clock circadian regulator gene DOID:535 sleep disorder ISO RGD:1552430 D RGD:9068941 20220825 MouseDO 11740902 CLOCK clock circadian regulator gene DOID:630 genetic disease ISO RGD:1348034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11740902 CLOCK clock circadian regulator gene DOID:83 cataract ISO RGD:1552430 D RGD:9068941 20200609 RGD PMID:21149897|REF_RGD_ID:10401871 11740902 CLOCK clock circadian regulator gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620271 D RGD:9068941 20200609 RGD protein:increased expression:pineal gland PMID:23336172|REF_RGD_ID:10043348 11740902 CLOCK clock circadian regulator gene DOID:9351 diabetes mellitus ISO RGD:1552430 D RGD:9068941 20220825 MouseDO 11740948 LRWD1 leucine rich repeats and WD repeat domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11740948 LRWD1 leucine rich repeats and WD repeat domain containing 1 gene DOID:630 genetic disease ISO RGD:1603534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11740949 SH2D4A SH2 domain containing 4A gene DOID:0080600 COVID-19 ISO RGD:1317502 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11740949 SH2D4A SH2 domain containing 4A gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1317502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 11740949 SH2D4A SH2 domain containing 4A gene DOID:630 genetic disease ISO RGD:1317502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11740969 LOC100989875 keratin-associated protein 10-7 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1605522 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 11740969 LOC100989875 keratin-associated protein 10-7 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1605522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11740969 LOC100989875 keratin-associated protein 10-7 gene DOID:0110266 cataract 9 multiple types ISO RGD:1605522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11740969 LOC100989875 keratin-associated protein 10-7 gene DOID:12849 autistic disorder ISO RGD:1605522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11740969 LOC100989875 keratin-associated protein 10-7 gene DOID:630 genetic disease ISO RGD:1605522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11740969 LOC100989875 keratin-associated protein 10-7 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1605522 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11740969 LOC100989875 keratin-associated protein 10-7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11740969 LOC100989875 keratin-associated protein 10-7 gene DOID:9263 homocystinuria ISO RGD:1605522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11740969 LOC100989875 keratin-associated protein 10-7 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11740973 RTN4R reticulon 4 receptor gene DOID:0060041 autism spectrum disorder ISO RGD:1607007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11740973 RTN4R reticulon 4 receptor gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1607007 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 11740973 RTN4R reticulon 4 receptor gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1607007 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 11740973 RTN4R reticulon 4 receptor gene DOID:1059 intellectual disability ISO RGD:1607007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11740973 RTN4R reticulon 4 receptor gene DOID:11198 DiGeorge syndrome ISO RGD:1607007 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 11740973 RTN4R reticulon 4 receptor gene DOID:11372 megacolon ISO RGD:1607007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11740973 RTN4R reticulon 4 receptor gene DOID:12583 velocardiofacial syndrome ISO RGD:1607007 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 11740973 RTN4R reticulon 4 receptor gene DOID:12849 autistic disorder ISO RGD:1607007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11740973 RTN4R reticulon 4 receptor gene DOID:1826 epilepsy ISO RGD:1607007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11740973 RTN4R reticulon 4 receptor gene DOID:2213 hemorrhagic disease ISO RGD:1607007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 11740973 RTN4R reticulon 4 receptor gene DOID:5419 schizophrenia ISO RGD:1607007 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia | ClinVar Annotator: match by term: Schizophrenia, susceptibility to PMID:15532024|PMID:21681106|PMID:30208311 11740973 RTN4R reticulon 4 receptor gene DOID:5419 schizophrenia susceptibility ISO RGD:1607007 D RGD:7240710 20230505 OMIM 11740973 RTN4R reticulon 4 receptor gene DOID:612 primary immunodeficiency disease ISO RGD:1607007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11740973 RTN4R reticulon 4 receptor gene DOID:630 genetic disease ISO RGD:1607007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11740973 RTN4R reticulon 4 receptor gene DOID:9003871 Venous Thrombosis ISO RGD:1607007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 11740973 RTN4R reticulon 4 receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11740973 RTN4R reticulon 4 receptor gene DOID:9007661 Dwarfism ISO RGD:1607007 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11740979 ZC3H14 zinc finger CCCH-type containing 14 gene DOID:0081217 autosomal recessive intellectual developmental disorder 56 ISO RGD:732811 D RGD:7240710 20190315 OMIM 11740979 ZC3H14 zinc finger CCCH-type containing 14 gene DOID:0081217 autosomal recessive intellectual developmental disorder 56 ISO RGD:732811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 56 PMID:21734151|PMID:25741868|PMID:28492532 11740979 ZC3H14 zinc finger CCCH-type containing 14 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:732811 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:28492532 11740979 ZC3H14 zinc finger CCCH-type containing 14 gene DOID:1059 intellectual disability ISO RGD:732811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11740979 ZC3H14 zinc finger CCCH-type containing 14 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11740979 ZC3H14 zinc finger CCCH-type containing 14 gene DOID:630 genetic disease ISO RGD:732811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11741010 RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:0080600 COVID-19 ISO RGD:1318125 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11741010 RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1318125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11741010 RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1318125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11741010 RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:10283 prostate cancer ISO RGD:1318125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11741010 RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1318125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11741010 RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:630 genetic disease ISO RGD:1318125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741010 RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1318125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 11741010 RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11741010 RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1318125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11741035 NSMAF neutral sphingomyelinase activation associated factor gene DOID:630 genetic disease ISO RGD:1352100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741073 PHF20 PHD finger protein 20 gene DOID:630 genetic disease ISO RGD:1605683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741073 PHF20 PHD finger protein 20 gene DOID:9007661 Dwarfism ISO RGD:1605683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11741095 FAM104A family with sequence similarity 104 member A gene DOID:0070259 congenital disorder of glycosylation type IIg ISO RGD:1602856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2G PMID:25741868|PMID:28492532 11741095 FAM104A family with sequence similarity 104 member A gene DOID:630 genetic disease ISO RGD:1602856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11741109 ZNF148 zinc finger protein 148 gene DOID:0060041 autism spectrum disorder ISO RGD:732332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11741109 ZNF148 zinc finger protein 148 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:732332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 11741109 ZNF148 zinc finger protein 148 gene DOID:630 genetic disease ISO RGD:732332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12840224|PMID:27964749|PMID:28492532 11741109 ZNF148 zinc finger protein 148 gene DOID:9005641 GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES ISO RGD:732332 D RGD:7240710 20190315 OMIM 11741109 ZNF148 zinc finger protein 148 gene DOID:9005641 GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES ISO RGD:732332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies PMID:12840224|PMID:25741868|PMID:27964749 11741109 ZNF148 zinc finger protein 148 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:732332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 11741109 ZNF148 zinc finger protein 148 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:732332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 11741109 ZNF148 zinc finger protein 148 gene DOID:9270 alkaptonuria ISO RGD:732332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11741139 LCT lactase gene DOID:0060180 colitis ISO RGD:620823 D RGD:9068941 20200609 RGD protein:decreased expression, increased expression:jejunum PMID:17218984|REF_RGD_ID:1600240 11741139 LCT lactase gene DOID:0060591 WHIM syndrome 1 ISO RGD:1344800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:28492532 11741139 LCT lactase gene DOID:0111646 congenital lactase deficiency ISO RGD:1344800 D RGD:7240710 20180130 OMIM 11741139 LCT lactase gene DOID:0111646 congenital lactase deficiency ISO RGD:1344800 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital lactase deficiency PMID:16400612|PMID:17576681|PMID:19161632|PMID:22688420|PMID:23103231|PMID:25741868|PMID:25881162|PMID:28492532|PMID:30813293|PMID:9536098 11741139 LCT lactase gene DOID:10604 lactose intolerance ISO RGD:1344800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lactose intolerance PMID:25741868|PMID:28492532 11741139 LCT lactase gene DOID:11394 adult respiratory distress syndrome ISO RGD:1344800 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 11741139 LCT lactase gene DOID:13250 diarrhea ISO RGD:620823 D RGD:9068941 20200609 RGD PMID:15977434|REF_RGD_ID:1600253 11741139 LCT lactase gene DOID:630 genetic disease ISO RGD:1344800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11741139 LCT lactase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620823 D RGD:9068941 20200609 RGD PMID:16021836|REF_RGD_ID:1600251 11741191 ZNF527 zinc finger protein 527 gene DOID:630 genetic disease ISO RGD:1347810 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741213 NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1320669 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:11978605|PMID:12468279|PMID:15108290|PMID:20301745|PMID:25741868|PMID:28492532 11741213 NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:0050799 guanidinoacetate methyltransferase deficiency ISO RGD:1320669 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 PMID:11978605|PMID:12468279|PMID:20301745|PMID:25741868|PMID:28492532 11741213 NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1320669 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:11978605|PMID:12468279|PMID:20301745|PMID:25741868|PMID:28492532 11741213 NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:0080600 COVID-19 ISO RGD:1320669 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11741213 NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1320669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 11741213 NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:0112093 nuclear type mitochondrial complex I deficiency 3 ISO RGD:1320669 D RGD:7240710 20190315 OMIM 11741213 NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:0112093 nuclear type mitochondrial complex I deficiency 3 ISO RGD:1320669 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 PMID:10330338|PMID:10360771|PMID:11004438|PMID:15269216|PMID:17275378|PMID:17604671|PMID:25741868|PMID:26024641|PMID:28492532|PMID:30369941 11741213 NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:1059 intellectual disability ISO RGD:1320669 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 11741213 NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:3312 bipolar disorder ISO RGD:1320669 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex (human) PMID:20368511|REF_RGD_ID:6484696 11741213 NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:3652 Leigh disease ISO RGD:1320669 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:10330338|PMID:10360771|PMID:11004438|PMID:11978605|PMID:12468279|PMID:15269216|PMID:17604671|PMID:20301745|PMID:25741868|PMID:26024641|PMID:28492532|PMID:30369941 11741213 NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:5339 cyclic hematopoiesis ISO RGD:1320669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11741213 NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:630 genetic disease ISO RGD:1320669 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11978605|PMID:12468279|PMID:20301745|PMID:25741868|PMID:28492532 11741213 NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1320669 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:10330338|PMID:10360771|PMID:11004438|PMID:11978605|PMID:12468279|PMID:15269216|PMID:17604671|PMID:20301745|PMID:25741868|PMID:26024641|PMID:28492532|PMID:30369941 11741242 DEFB113 defensin beta 113 gene DOID:630 genetic disease ISO RGD:1346729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741266 CDCA8 cell division cycle associated 8 gene DOID:0080600 COVID-19 ISO RGD:1346860 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11741266 CDCA8 cell division cycle associated 8 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1346860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11741266 CDCA8 cell division cycle associated 8 gene DOID:630 genetic disease ISO RGD:1346860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741266 CDCA8 cell division cycle associated 8 gene DOID:684 hepatocellular carcinoma ISO RGD:1346860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11741266 CDCA8 cell division cycle associated 8 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1346860 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 11741284 ANHX anomalous homeobox gene DOID:630 genetic disease ISO RGD:6483645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741296 ANKRD54 ankyrin repeat domain 54 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1605877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11741296 ANKRD54 ankyrin repeat domain 54 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1605877 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11741296 ANKRD54 ankyrin repeat domain 54 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1605877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11741296 ANKRD54 ankyrin repeat domain 54 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1605877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11741296 ANKRD54 ankyrin repeat domain 54 gene DOID:630 genetic disease ISO RGD:1605877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741322 LOC100969123 olfactory receptor 4N5 gene DOID:630 genetic disease ISO RGD:1322544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741325 DMRT1 doublesex and mab-3 related transcription factor 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:732173 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 11741325 DMRT1 doublesex and mab-3 related transcription factor 1 gene DOID:0070168 spermatogenic failure 3 ISO RGD:732173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:24934491|PMID:25741868|PMID:28492532|PMID:31479588 11741325 DMRT1 doublesex and mab-3 related transcription factor 1 gene DOID:0080545 hyper IgE syndrome ISO RGD:732173 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive PMID:28492532 11741325 DMRT1 doublesex and mab-3 related transcription factor 1 gene DOID:0080594 hyper IgE recurrent infection syndrome 2 ISO RGD:732173 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE PMID:28492532 11741325 DMRT1 doublesex and mab-3 related transcription factor 1 gene DOID:0111771 46,XY sex reversal 4 ISO RGD:732173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 4 PMID:25741868 11741325 DMRT1 doublesex and mab-3 related transcription factor 1 gene DOID:14448 46,XY sex reversal ISO RGD:732173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY PMID:25741868 11741325 DMRT1 doublesex and mab-3 related transcription factor 1 gene DOID:630 genetic disease ISO RGD:732173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741325 DMRT1 doublesex and mab-3 related transcription factor 1 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:732173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20543847 11741325 DMRT1 doublesex and mab-3 related transcription factor 1 gene DOID:9004207 Testicular Neoplasms ISO RGD:732173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20543847 11741334 PRR15 proline rich 15 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11741334 PRR15 proline rich 15 gene DOID:630 genetic disease ISO RGD:1603877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741348 MAGEH1 MAGE family member H1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11741348 MAGEH1 MAGE family member H1 gene DOID:12849 autistic disorder ISO RGD:1349577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11741348 MAGEH1 MAGE family member H1 gene DOID:630 genetic disease ISO RGD:1349577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741353 WRNIP1 WRN helicase interacting protein 1 gene DOID:630 genetic disease ISO RGD:1346094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741372 GNAZ G protein subunit alpha z gene DOID:11198 DiGeorge syndrome ISO RGD:733341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 11741372 GNAZ G protein subunit alpha z gene DOID:5419 schizophrenia ISO RGD:733341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11741372 GNAZ G protein subunit alpha z gene DOID:630 genetic disease ISO RGD:733341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741372 GNAZ G protein subunit alpha z gene DOID:684 hepatocellular carcinoma ISO RGD:733341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11741379 LEMD1 LEM domain containing 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1346619 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11741379 LEMD1 LEM domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1346619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11741379 LEMD1 LEM domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1346619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11741379 LEMD1 LEM domain containing 1 gene DOID:630 genetic disease ISO RGD:1346619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741379 LEMD1 LEM domain containing 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1346619 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11741379 LEMD1 LEM domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11741410 PLS1 plastin 1 gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:1316159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA | ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing impairment PMID:30872814|PMID:31397523 11741410 PLS1 plastin 1 gene DOID:0112167 autosomal dominant nonsyndromic deafness 76 ISO RGD:1316159 D RGD:7240710 20200318 OMIM 11741410 PLS1 plastin 1 gene DOID:0112167 autosomal dominant nonsyndromic deafness 76 ISO RGD:1316159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 76 PMID:25741868|PMID:30872814|PMID:31397523|PMID:31432506 11741410 PLS1 plastin 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1316159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:31397523 11741410 PLS1 plastin 1 gene DOID:630 genetic disease ISO RGD:1316159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741410 PLS1 plastin 1 gene DOID:9004538 Hearing Loss ISO RGD:1316159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hereditary hearing loss and deafness PMID:25741868|PMID:30872814|PMID:31397523|PMID:31432506 11741410 PLS1 plastin 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1316159 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17114358 11741430 TBC1D22B TBC1 domain family member 22B gene DOID:630 genetic disease ISO RGD:1353872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741451 PLAAT4 phospholipase A and acyltransferase 4 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1342575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11741451 PLAAT4 phospholipase A and acyltransferase 4 gene DOID:1059 intellectual disability ISO RGD:1342575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11741451 PLAAT4 phospholipase A and acyltransferase 4 gene DOID:630 genetic disease ISO RGD:1342575 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741459 LOC100979289 histone H2B type 1-A gene DOID:630 genetic disease ISO RGD:1352004 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741465 ZNFX1 zinc finger NFX1-type containing 1 gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:1603622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 PMID:28492532 11741465 ZNFX1 zinc finger NFX1-type containing 1 gene DOID:630 genetic disease ISO RGD:1603622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741465 ZNFX1 zinc finger NFX1-type containing 1 gene DOID:9003310 IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION ISO RGD:1603622 D RGD:7240710 20220209 OMIM 11741465 ZNFX1 zinc finger NFX1-type containing 1 gene DOID:9003310 IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION ISO RGD:1603622 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 91 and hyperinflammation PMID:25741868|PMID:33872655|PMID:33876776 11741502 SDR39U1 short chain dehydrogenase/reductase family 39U member 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1319586 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11741502 SDR39U1 short chain dehydrogenase/reductase family 39U member 1 gene DOID:630 genetic disease ISO RGD:1319586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741502 SDR39U1 short chain dehydrogenase/reductase family 39U member 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1319586 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11741502 SDR39U1 short chain dehydrogenase/reductase family 39U member 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319586 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11741526 ZNF829 zinc finger protein 829 gene DOID:630 genetic disease ISO RGD:2292093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741546 NKX1-1 NK1 homeobox 1 gene DOID:1856 cherubism ISO RGD:1603306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11741556 PALM2AKAP2 PALM2 and AKAP2 fusion gene DOID:10283 prostate cancer ISO RGD:1603446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11741556 PALM2AKAP2 PALM2 and AKAP2 fusion gene DOID:630 genetic disease ISO RGD:1603446 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741556 PALM2AKAP2 PALM2 and AKAP2 fusion gene DOID:9004657 Weight Gain ISO RGD:2308242 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11741587 FOXR2 forkhead box R2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11741587 FOXR2 forkhead box R2 gene DOID:12849 autistic disorder ISO RGD:1352257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11741587 FOXR2 forkhead box R2 gene DOID:630 genetic disease ISO RGD:1352257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741587 FOXR2 forkhead box R2 gene DOID:9004217 Nerve Sheath Neoplasms ISO RGD:1352257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685747 11741592 SMARCD3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 gene DOID:0080600 COVID-19 ISO RGD:1323550 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11741592 SMARCD3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1323550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 11741592 SMARCD3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 gene DOID:2843 long QT syndrome ISO RGD:1323550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 11741592 SMARCD3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 gene DOID:630 genetic disease ISO RGD:1323550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741592 SMARCD3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1311869 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:heart left ventricle PMID:23702776|REF_RGD_ID:9586349 11741611 FBXO8 F-box protein 8 gene DOID:630 genetic disease ISO RGD:1316882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741611 FBXO8 F-box protein 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11741621 SNPH syntaphilin gene DOID:630 genetic disease ISO RGD:1314155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741660 VDAC3 voltage dependent anion channel 3 gene DOID:0090039 torsion dystonia 6 ISO RGD:733844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 11741660 VDAC3 voltage dependent anion channel 3 gene DOID:0111959 immunodeficiency 15B ISO RGD:733844 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 11741660 VDAC3 voltage dependent anion channel 3 gene DOID:630 genetic disease ISO RGD:733844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741660 VDAC3 voltage dependent anion channel 3 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:733844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 11741676 CPSF3 cleavage and polyadenylation specific factor 3 gene DOID:630 genetic disease ISO RGD:1313998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741676 CPSF3 cleavage and polyadenylation specific factor 3 gene DOID:9008601 Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures ISO RGD:1313998 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures PMID:35121750 11741698 SLC38A9 solute carrier family 38 member 9 gene DOID:630 genetic disease ISO RGD:1604225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741698 SLC38A9 solute carrier family 38 member 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11741698 SLC38A9 solute carrier family 38 member 9 gene DOID:9007188 Liver Neoplasms ISO RGD:1604225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11741738 ANXA5 annexin A5 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:734268 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:17999093|REF_RGD_ID:7242031 11741738 ANXA5 annexin A5 gene DOID:0080600 COVID-19 ISO RGD:734268 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11741738 ANXA5 annexin A5 gene DOID:10591 pre-eclampsia ISO RGD:734268 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19837457 11741738 ANXA5 annexin A5 gene DOID:10652 Alzheimer's disease ISO RGD:734268 D RGD:9068941 20200609 RGD protein:increased expression: plasma PMID:20648654|REF_RGD_ID:7242030 11741738 ANXA5 annexin A5 gene DOID:10652 Alzheimer's disease ISO RGD:734269 D RGD:9068941 20200609 RGD protein:increased expression:brain, plasma PMID:20648654|REF_RGD_ID:7242030 11741738 ANXA5 annexin A5 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:734268 D RGD:9068941 20200609 RGD mRNA:increased expression:white blood cell: PMID:19684010|REF_RGD_ID:6478714 11741738 ANXA5 annexin A5 gene DOID:11383 cryptorchidism ISO RGD:2120 D RGD:9068941 20200609 RGD protein:increased expression: seminiferous tubulle PMID:19376566|REF_RGD_ID:10053693 11741738 ANXA5 annexin A5 gene DOID:12217 Lewy body dementia ISO RGD:734268 D RGD:9068941 20200609 RGD protein:increased expression: plasma PMID:23576984|REF_RGD_ID:10053729 11741738 ANXA5 annexin A5 gene DOID:14330 Parkinson's disease ISO RGD:734268 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid: PMID:10584677|REF_RGD_ID:10053728 11741738 ANXA5 annexin A5 gene DOID:1459 hypothyroidism ISO RGD:2120 D RGD:9068941 20200609 RGD protein:increased expression:thyroid gland: PMID:9022675|REF_RGD_ID:2306952 11741738 ANXA5 annexin A5 gene DOID:1749 squamous cell carcinoma ISO RGD:734268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 11741738 ANXA5 annexin A5 gene DOID:2921 glomerulonephritis ISO RGD:2120 D RGD:9068941 20200609 RGD PMID:11271515|REF_RGD_ID:7241853 11741738 ANXA5 annexin A5 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:734268 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19488907|REF_RGD_ID:2317538 11741738 ANXA5 annexin A5 gene DOID:3910 lung adenocarcinoma ISO RGD:734268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 11741738 ANXA5 annexin A5 gene DOID:418 systemic scleroderma severity ISO RGD:734268 D RGD:9068941 20200609 RGD PMID:21124692|REF_RGD_ID:7242029 11741738 ANXA5 annexin A5 gene DOID:438 autoimmune disease of the nervous system ISO RGD:734268 D RGD:9068941 20200609 RGD PMID:15486486|REF_RGD_ID:10053691 11741738 ANXA5 annexin A5 gene DOID:5844 myocardial infarction ISO RGD:2120 D RGD:9068941 20200609 RGD protein:altered localization:cardiac muscle cell, sarcolemma PMID:16501019|REF_RGD_ID:2317541 11741738 ANXA5 annexin A5 gene DOID:5844 myocardial infarction ISO RGD:734268 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:8814351|REF_RGD_ID:2317543 11741738 ANXA5 annexin A5 gene DOID:5844 myocardial infarction no_association ISO RGD:734268 D RGD:9068941 20200609 RGD DNA:polymorphism: :-1C>T (human) PMID:16025836|REF_RGD_ID:1578384 11741738 ANXA5 annexin A5 gene DOID:5844 myocardial infarction susceptibility ISO RGD:734268 D RGD:9068941 20200609 RGD DNA:polymorphism: :-1C>T (human) PMID:12200370|REF_RGD_ID:2317542 11741738 ANXA5 annexin A5 gene DOID:630 genetic disease ISO RGD:734268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741738 ANXA5 annexin A5 gene DOID:7998 hyperthyroidism ISO RGD:2120 D RGD:9068941 20200609 RGD protein:decreased expression:thyroid gland: PMID:9022675|REF_RGD_ID:2306952 11741738 ANXA5 annexin A5 gene DOID:893 Wilson disease ISO RGD:2120 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:21751376|REF_RGD_ID:10053726 11741738 ANXA5 annexin A5 gene DOID:893 Wilson disease ISO RGD:734268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751376 11741738 ANXA5 annexin A5 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2120 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:neuron,glial cell PMID:15248295|REF_RGD_ID:10053688 11741738 ANXA5 annexin A5 gene DOID:9000217 Stomach Neoplasms ISO RGD:734268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11741738 ANXA5 annexin A5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11741738 ANXA5 annexin A5 gene DOID:9002331 Knee Osteoarthritis disease_progression ISO RGD:734268 D RGD:9068941 20200609 RGD protein:increased expression:chondrocyte: PMID:10903884|REF_RGD_ID:10053727 11741738 ANXA5 annexin A5 gene DOID:9003936 Cardiomegaly ISO RGD:2120 D RGD:9068941 20200609 RGD mRNA:increased expression:heart: PMID:10603972|REF_RGD_ID:10053694 11741738 ANXA5 annexin A5 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:734268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 11741738 ANXA5 annexin A5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11741738 ANXA5 annexin A5 gene DOID:9004657 Weight Gain ISO RGD:734268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11741738 ANXA5 annexin A5 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:734268 D RGD:9068941 20200609 RGD PMID:21918686|REF_RGD_ID:7242028 11741738 ANXA5 annexin A5 gene DOID:9007102 Myocardial Ischemia ISO RGD:2120 D RGD:9068941 20200609 RGD PMID:8056721|REF_RGD_ID:7241858 11741738 ANXA5 annexin A5 gene DOID:9007364 Mouth Neoplasms ISO RGD:734268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 11741738 ANXA5 annexin A5 gene DOID:9007479 Habitual Abortions ISO RGD:734268 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism 11741738 ANXA5 annexin A5 gene DOID:9007479 Habitual Abortions susceptibility ISO RGD:734268 D RGD:7240710 20230505 OMIM 11741738 ANXA5 annexin A5 gene DOID:9007820 Sudden Death no_association ISO RGD:734268 D RGD:9068941 20200609 RGD DNA:polymorphism: :-1C>T (human) PMID:16025836|REF_RGD_ID:1578384 11741738 ANXA5 annexin A5 gene DOID:9119 acute myeloid leukemia ISO RGD:734268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11741755 PEX2 peroxisomal biogenesis factor 2 gene DOID:0050444 infantile Refsum disease ISO RGD:1349650 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE PMID:10528859|PMID:10652207|PMID:14630978|PMID:1546315|PMID:15542397|PMID:17041890|PMID:21031596|PMID:21465523|PMID:23430938|PMID:23590336|PMID:23829372|PMID:25333069|PMID:25741868|PMID:28089346|PMID:28492532|PMID:7541833|PMID:7681622|PMID:9452066|PMID:9585609 11741755 PEX2 peroxisomal biogenesis factor 2 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1349650 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10528859|PMID:1546315 11741755 PEX2 peroxisomal biogenesis factor 2 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1349650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a PMID:25741868|PMID:28492532 11741755 PEX2 peroxisomal biogenesis factor 2 gene DOID:0080480 peroxisome biogenesis disorder 5A ISO RGD:1349650 D RGD:7240710 20180130 OMIM 11741755 PEX2 peroxisomal biogenesis factor 2 gene DOID:0080480 peroxisome biogenesis disorder 5A ISO RGD:1349650 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 5A (Zellweger) PMID:10528859|PMID:10652207|PMID:14630978|PMID:1546315|PMID:15542397|PMID:17041890|PMID:21031596|PMID:21465523|PMID:23430938|PMID:23590336|PMID:23829372|PMID:25333069|PMID:25741868|PMID:28089346|PMID:28492532|PMID:32860008|PMID:7541833|PMID:7681622|PMID:9452066|PMID:9585609 11741755 PEX2 peroxisomal biogenesis factor 2 gene DOID:630 genetic disease ISO RGD:1349650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11741755 PEX2 peroxisomal biogenesis factor 2 gene DOID:9006420 Zellweger Leukodystrophy ISO RGD:1349650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:25741868|PMID:28492532 11741755 PEX2 peroxisomal biogenesis factor 2 gene DOID:9008800 Peroxisome Biogenesis Disorder 5B ISO RGD:1349650 D RGD:7240710 20180130 OMIM 11741755 PEX2 peroxisomal biogenesis factor 2 gene DOID:9008800 Peroxisome Biogenesis Disorder 5B ISO RGD:1349650 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 5B PMID:10528859|PMID:10652207|PMID:14630978|PMID:1546315|PMID:15542397|PMID:17041890|PMID:21031596|PMID:21392394|PMID:21465523|PMID:23430938|PMID:23590336|PMID:23829372|PMID:25333069|PMID:25741868|PMID:28089346|PMID:28492532|PMID:7541833|PMID:7681622|PMID:7931872|PMID:9452066|PMID:9585609 11741755 PEX2 peroxisomal biogenesis factor 2 gene DOID:905 Zellweger syndrome ISO RGD:1349650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10528859|PMID:10652207|PMID:14630978|PMID:1546315|PMID:15542397|PMID:17041890|PMID:21031596|PMID:21465523|PMID:23430938|PMID:23590336|PMID:23829372|PMID:25741868|PMID:28089346|PMID:28492532|PMID:7541833|PMID:7681622|PMID:9452066|PMID:9585609 11741755 PEX2 peroxisomal biogenesis factor 2 gene DOID:905 Zellweger syndrome ISO RGD:1349650 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10528859|PMID:10652207|PMID:14630978|PMID:1546315|PMID:15542397|PMID:17041890|PMID:21031596|PMID:21465523|PMID:23430938|PMID:23590336|PMID:23829372|PMID:25333069|PMID:25741868|PMID:28089346|PMID:28492532|PMID:7541833|PMID:7681622|PMID:9452066|PMID:9585609 11741769 GRXCR1 glutaredoxin and cysteine rich domain containing 1 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:2298825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:20137778|PMID:30303587 11741769 GRXCR1 glutaredoxin and cysteine rich domain containing 1 gene DOID:0110483 autosomal recessive nonsyndromic deafness 25 ISO RGD:2298825 D RGD:7240710 20180130 OMIM 11741769 GRXCR1 glutaredoxin and cysteine rich domain containing 1 gene DOID:0110483 autosomal recessive nonsyndromic deafness 25 ISO RGD:2298825 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 25 PMID:16380907|PMID:20137774|PMID:20137778|PMID:24033266|PMID:25741868|PMID:25802247|PMID:26226137|PMID:26467025|PMID:26969326|PMID:28492532|PMID:30303587|PMID:30311386|PMID:32279305|PMID:34753855|PMID:35802133|PMID:36633841|PMID:36672810 11741769 GRXCR1 glutaredoxin and cysteine rich domain containing 1 gene DOID:5419 schizophrenia ISO RGD:2298825 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11741769 GRXCR1 glutaredoxin and cysteine rich domain containing 1 gene DOID:630 genetic disease ISO RGD:2298825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11741769 GRXCR1 glutaredoxin and cysteine rich domain containing 1 gene DOID:9004538 Hearing Loss ISO RGD:2298825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:25802247|PMID:28492532|PMID:30311386 11741769 GRXCR1 glutaredoxin and cysteine rich domain containing 1 gene DOID:9008681 Deafness ISO RGD:2298825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 11741791 FICD FIC domain protein adenylyltransferase gene DOID:630 genetic disease ISO RGD:1602333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741798 ZNF513 zinc finger protein 513 gene DOID:0110362 retinitis pigmentosa 58 ISO RGD:1321365 D RGD:7240710 20180130 OMIM 11741798 ZNF513 zinc finger protein 513 gene DOID:0110362 retinitis pigmentosa 58 ISO RGD:1321365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 58 PMID:20227676|PMID:20797688|PMID:25741868|PMID:28492532 11741798 ZNF513 zinc finger protein 513 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1321365 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11741798 ZNF513 zinc finger protein 513 gene DOID:10584 retinitis pigmentosa ISO RGD:1321365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20227676|PMID:20797688|PMID:25741868|PMID:28492532 11741798 ZNF513 zinc finger protein 513 gene DOID:630 genetic disease ISO RGD:1321365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11741798 ZNF513 zinc finger protein 513 gene DOID:8501 fundus dystrophy ISO RGD:1321365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 11741806 NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1343021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:18179882|PMID:25741868|PMID:28492532 11741806 NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1343021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 11741806 NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 gene DOID:0112077 nuclear type mitochondrial complex I deficiency 15 ISO RGD:1343021 D RGD:7240710 20190315 OMIM 11741806 NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 gene DOID:0112077 nuclear type mitochondrial complex I deficiency 15 ISO RGD:1343021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 PMID:25741868|PMID:28492532|PMID:28853723 11741806 NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 gene DOID:630 genetic disease ISO RGD:1343021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11741813 ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:731735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11741813 ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:731735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11741813 ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:731735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11741813 ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) gene DOID:1148 polydactyly ISO RGD:731735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 11741813 ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) gene DOID:11612 polycystic ovary syndrome ISO RGD:731735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11741813 ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) gene DOID:12270 coloboma ISO RGD:731735 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ocular coloboma PMID:15142123|PMID:23180570|PMID:25741868|PMID:28492532|PMID:2998465 11741813 ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) gene DOID:13269 hereditary coproporphyria ISO RGD:731735 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: CPO deficiency | ClinVar Annotator: match by term: Hereditary coproporphyria PMID:22958180|PMID:25741868|PMID:28492532 11741813 ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) gene DOID:13270 erythropoietic protoporphyria ISO RGD:731735 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ferrochelatase deficiency PMID:22958180|PMID:28492532 11741813 ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) gene DOID:3133 acute porphyria ISO RGD:731735 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Acute Porphyria PMID:22958180|PMID:28492532 11741813 ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) gene DOID:3890 acute intermittent porphyria ISO RGD:731735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: Hydroxymethylbilane Synthase Deficiency PMID:22958180|PMID:24281366|PMID:25741868|PMID:28492532 11741813 ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) gene DOID:4346 variegate porphyria ISO RGD:731735 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Variegate porphyria PMID:22958180|PMID:24281366|PMID:25741868|PMID:28492532 11741813 ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:731735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11741813 ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) gene DOID:630 genetic disease ISO RGD:731735 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11741813 ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) gene DOID:9002801 Recurrence ISO RGD:731735 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 11741813 ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) gene DOID:9002999 Isolated Microphthalmia with Coloboma 7 ISO RGD:731735 D RGD:7240710 20180130 OMIM 11741813 ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) gene DOID:9002999 Isolated Microphthalmia with Coloboma 7 ISO RGD:731735 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 7 PMID:15142123|PMID:19504436|PMID:22226084|PMID:23180570|PMID:24281366|PMID:25741868|PMID:28492532|PMID:2998465 11741813 ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11741813 ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) gene DOID:9004435 Erythropoietic Protoporphyria 1 ISO RGD:731735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1 PMID:22958180|PMID:24281366|PMID:25741868|PMID:28492532 11741813 ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) gene DOID:9004547 Thyroid Neoplasms ISO RGD:731735 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 11741813 ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) gene DOID:9005794 Coproporphyria ISO RGD:731735 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Porphyria hepatica II PMID:22958180|PMID:28492532 11741813 ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) gene DOID:9006892 Dyschromatosis Universalis Hereditaria 3 ISO RGD:731735 D RGD:7240710 20180130 OMIM 11741813 ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) gene DOID:9006892 Dyschromatosis Universalis Hereditaria 3 ISO RGD:731735 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dyschromatosis universalis hereditaria 3 PMID:15142123|PMID:23180570|PMID:23519333|PMID:24224009|PMID:25741868|PMID:28492532|PMID:2998465 11741813 ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) gene DOID:9008443 Colorectal Neoplasms ISO RGD:731735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 11741813 ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) gene DOID:9008560 Pseudohyperkalemia, Familial, 2, due to Red Cell Leak ISO RGD:731735 D RGD:7240710 20180130 OMIM 11741813 ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) gene DOID:9008560 Pseudohyperkalemia, Familial, 2, due to Red Cell Leak ISO RGD:731735 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CRYOHYDROCYTOSIS, MILD | ClinVar Annotator: match by term: Pseudohyperkalemia, familial, 2, due to red cell leak PMID:11918557|PMID:15142123|PMID:23180570|PMID:24947683|PMID:25741868|PMID:27151991|PMID:2766660|PMID:28492532|PMID:2998465|PMID:6123793 11741843 S100A12 S100 calcium binding protein A12 gene DOID:0111940 immunodeficiency 42 ISO RGD:1352115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11741843 S100A12 S100 calcium binding protein A12 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1352115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11741843 S100A12 S100 calcium binding protein A12 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1352115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11741843 S100A12 S100 calcium binding protein A12 gene DOID:1540 parathyroid carcinoma ISO RGD:1352115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11741843 S100A12 S100 calcium binding protein A12 gene DOID:403 mouth disease ISO RGD:1352115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 11741843 S100A12 S100 calcium binding protein A12 gene DOID:5812 MHC class II deficiency ISO RGD:1352115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11741843 S100A12 S100 calcium binding protein A12 gene DOID:630 genetic disease ISO RGD:1352115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741843 S100A12 S100 calcium binding protein A12 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11741901 HOXB6 homeobox B6 gene DOID:630 genetic disease ISO RGD:1602502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741913 LRRK1 leucine rich repeat kinase 1 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1317516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 11741913 LRRK1 leucine rich repeat kinase 1 gene DOID:0081111 osteosclerotic metaphyseal dysplasia ISO RGD:1317516 D RGD:7240710 20211222 OMIM 11741913 LRRK1 leucine rich repeat kinase 1 gene DOID:0081111 osteosclerotic metaphyseal dysplasia ISO RGD:1317516 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteosclerotic metaphyseal dysplasia PMID:25741868|PMID:27055475|PMID:27829680|PMID:28492532|PMID:31571209|PMID:32119750|PMID:8255649 11741913 LRRK1 leucine rich repeat kinase 1 gene DOID:13533 osteopetrosis ISO RGD:1317517 D RGD:9068941 20220825 MouseDO 11741913 LRRK1 leucine rich repeat kinase 1 gene DOID:630 genetic disease ISO RGD:1317516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11741913 LRRK1 leucine rich repeat kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11741950 CCDC166 coiled-coil domain containing 166 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:5134207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11741950 CCDC166 coiled-coil domain containing 166 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:5134207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11741950 CCDC166 coiled-coil domain containing 166 gene DOID:4621 holoprosencephaly ISO RGD:5134207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11741950 CCDC166 coiled-coil domain containing 166 gene DOID:630 genetic disease ISO RGD:5134207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741955 TTC13 tetratricopeptide repeat domain 13 gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1320938 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 11741955 TTC13 tetratricopeptide repeat domain 13 gene DOID:1540 parathyroid carcinoma ISO RGD:1320938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11741955 TTC13 tetratricopeptide repeat domain 13 gene DOID:630 genetic disease ISO RGD:1320938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11741955 TTC13 tetratricopeptide repeat domain 13 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1320938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 11741955 TTC13 tetratricopeptide repeat domain 13 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11741989 ZNF333 zinc finger protein 333 gene DOID:630 genetic disease ISO RGD:1352601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742016 PCYOX1 prenylcysteine oxidase 1 gene DOID:630 genetic disease ISO RGD:1350972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742016 PCYOX1 prenylcysteine oxidase 1 gene DOID:9004657 Weight Gain ISO RGD:1350972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11742026 SMC1A structural maintenance of chromosomes 1A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:737070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11742026 SMC1A structural maintenance of chromosomes 1A gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11742026 SMC1A structural maintenance of chromosomes 1A gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:737070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 11742026 SMC1A structural maintenance of chromosomes 1A gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:737070 D RGD:7240710 20190315 OMIM 11742026 SMC1A structural maintenance of chromosomes 1A gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:737070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome | ClinVar Annotator: match by term: Cornelia de Lange syndrome 2 | ClinVar Annotator: match by term: SMC1A-related cohesinopathy PMID:11532960|PMID:11877377|PMID:16199547|PMID:16273072|PMID:16604071|PMID:17221863|PMID:17273969|PMID:17576681|PMID:18414213|PMID:18996922|PMID:19052029|PMID:19701948|PMID:19842212|PMID:20358602|PMID:20635401|PMID:22106055|PMID:22140011|PMID:23551878|PMID:23683030|PMID:24088041|PMID:24124034|PMID:24461912|PMID:24756084|PMID:25125236|PMID:25326635|PMID:25356970|PMID:25574841|PMID:25741868|PMID:26354354|PMID:26358754|PMID:26386245|PMID:26467025|PMID:26633545|PMID:26752331|PMID:27159028|PMID:27171548|PMID:27334371|PMID:28166369|PMID:28425213|PMID:28492532|PMID:28548707|PMID:28826797|PMID:30158690|PMID:30847515|PMID:30871455|PMID:31098032|PMID:31157197|PMID:31334757|PMID:31602316|PMID:31785789|PMID:32238909|PMID:33619735|PMID:9536098 11742026 SMC1A structural maintenance of chromosomes 1A gene DOID:0080721 calvarial doughnut lesions with bone fragility ISO RGD:737070 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: CDL PMID:18414213 11742026 SMC1A structural maintenance of chromosomes 1A gene DOID:0112038 non-syndromic X-linked intellectual disability 1 ISO RGD:737070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 18 PMID:19052029|PMID:23683030|PMID:26059843|PMID:28492532 11742026 SMC1A structural maintenance of chromosomes 1A gene DOID:1059 intellectual disability ISO RGD:737070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11742026 SMC1A structural maintenance of chromosomes 1A gene DOID:10907 microcephaly ISO RGD:737070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:16604071|PMID:17273969|PMID:24124034|PMID:25125236|PMID:25741868|PMID:28425213|PMID:28492532 11742026 SMC1A structural maintenance of chromosomes 1A gene DOID:11054 urinary bladder cancer ISO RGD:737070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121791 11742026 SMC1A structural maintenance of chromosomes 1A gene DOID:11725 Cornelia de Lange syndrome ISO RGD:737070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome | ClinVar Annotator: match by term: De Lange syndrome PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532 11742026 SMC1A structural maintenance of chromosomes 1A gene DOID:12849 autistic disorder ISO RGD:737070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11742026 SMC1A structural maintenance of chromosomes 1A gene DOID:1826 epilepsy ISO RGD:737070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 11742026 SMC1A structural maintenance of chromosomes 1A gene DOID:6000 congestive heart failure disease_progression ISO RGD:737070 D RGD:9068941 20221027 RGD DNA:mutations: : PMID:33779075|REF_RGD_ID:155630627 11742026 SMC1A structural maintenance of chromosomes 1A gene DOID:607 paraplegia ISO RGD:737070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11742026 SMC1A structural maintenance of chromosomes 1A gene DOID:630 genetic disease ISO RGD:737070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11532960|PMID:16604071|PMID:17273969|PMID:17576681|PMID:18414213|PMID:19701948|PMID:20635401|PMID:23551878|PMID:24124034|PMID:24756084|PMID:25125236|PMID:25356970|PMID:25741868|PMID:26467025|PMID:27159028|PMID:28425213|PMID:28492532|PMID:33619735|PMID:9536098 11742026 SMC1A structural maintenance of chromosomes 1A gene DOID:8692 myeloid leukemia ISO RGD:737070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23955599 11742026 SMC1A structural maintenance of chromosomes 1A gene DOID:9001510 Funnel Chest ISO RGD:737070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:25741868 11742026 SMC1A structural maintenance of chromosomes 1A gene DOID:9002112 Growth Deficiency and Mental Retardation with Facial Dysmorphism ISO RGD:737070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wiedemann-Steiner syndrome PMID:25574841 11742026 SMC1A structural maintenance of chromosomes 1A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 11742026 SMC1A structural maintenance of chromosomes 1A gene DOID:9004603 Atkin Syndrome ISO RGD:737070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome PMID:19052029|PMID:23683030|PMID:26059843|PMID:28492532 11742026 SMC1A structural maintenance of chromosomes 1A gene DOID:9006534 Nervous System Malformations ISO RGD:737070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11742026 SMC1A structural maintenance of chromosomes 1A gene DOID:9008086 Developmental Disabilities ISO RGD:737070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11742026 SMC1A structural maintenance of chromosomes 1A gene DOID:9008619 Developmental and Epileptic Encephalopathy 85 ISO RGD:737070 D RGD:7240710 20200429 OMIM 11742026 SMC1A structural maintenance of chromosomes 1A gene DOID:9008619 Developmental and Epileptic Encephalopathy 85 ISO RGD:737070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 85, with or without midline brain defects PMID:17273969|PMID:19701948|PMID:25741868|PMID:26358754|PMID:26386245|PMID:26752331|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:30158690|PMID:31334757 11742026 SMC1A structural maintenance of chromosomes 1A gene DOID:9352 type 2 diabetes mellitus ISO RGD:61991 D RGD:9068941 20221027 RGD mRNA:increased expression:testis: PMID:33775663|REF_RGD_ID:155631260 11742065 PACC1 proton activated chloride channel 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1602479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11742065 PACC1 proton activated chloride channel 1 gene DOID:630 genetic disease ISO RGD:1602479 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742065 PACC1 proton activated chloride channel 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11742077 NR1I3 nuclear receptor subfamily 1 group I member 3 gene DOID:0050868 hepatocellular adenoma ISO RGD:1344163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25656644 11742077 NR1I3 nuclear receptor subfamily 1 group I member 3 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1344163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941|PMID:25656644 11742077 NR1I3 nuclear receptor subfamily 1 group I member 3 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1344163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22726846 11742077 NR1I3 nuclear receptor subfamily 1 group I member 3 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1344163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11742077 NR1I3 nuclear receptor subfamily 1 group I member 3 gene DOID:13580 cholestasis disease_progression ISO RGD:621400 D RGD:9068941 20200609 RGD PMID:29204052|REF_RGD_ID:13782189 11742077 NR1I3 nuclear receptor subfamily 1 group I member 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1344163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11742077 NR1I3 nuclear receptor subfamily 1 group I member 3 gene DOID:630 genetic disease ISO RGD:1344163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742077 NR1I3 nuclear receptor subfamily 1 group I member 3 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1344163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17172636|PMID:24769335|PMID:25656644 11742077 NR1I3 nuclear receptor subfamily 1 group I member 3 gene DOID:9005369 Hepatomegaly ISO RGD:1344163 D RGD:9068941 20200910 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:23607986|PMID:23721867|PMID:25656644|PMID:32320717|PMID:32435917 11742077 NR1I3 nuclear receptor subfamily 1 group I member 3 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:621400 D RGD:9068941 20200609 RGD PMID:20636876|REF_RGD_ID:9835393 11742077 NR1I3 nuclear receptor subfamily 1 group I member 3 gene DOID:9006646 Metabolic Syndrome ISO RGD:1344163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20869355 11742077 NR1I3 nuclear receptor subfamily 1 group I member 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1344163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941|PMID:19482888|PMID:22293087|PMID:24449422|PMID:28218408 11742077 NR1I3 nuclear receptor subfamily 1 group I member 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14742670|PMID:25656644|PMID:28058446 11742077 NR1I3 nuclear receptor subfamily 1 group I member 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11742077 NR1I3 nuclear receptor subfamily 1 group I member 3 gene DOID:9351 diabetes mellitus ISO RGD:1344163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20869355 11742077 NR1I3 nuclear receptor subfamily 1 group I member 3 gene DOID:9970 obesity ISO RGD:1344163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20869355 11742110 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1351228 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P312L (human) PMID:11940089|REF_RGD_ID:11554032 11742110 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11742110 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:0060827 X-linked intellectual disability-psychosis-macroorchidism syndrome ISO RGD:1351228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic 16 PMID:25741868|PMID:28492532 11742110 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1351228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 11742110 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:0111824 Aarskog syndrome ISO RGD:1351228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aarskog syndrome PMID:10930571|PMID:11093277|PMID:11940089|PMID:14560308|PMID:15809997|PMID:16353258|PMID:16688726|PMID:17152066|PMID:17847065|PMID:20082460|PMID:21739585|PMID:23211637|PMID:25046119|PMID:25741868|PMID:26029706|PMID:27959697|PMID:28492532|PMID:29276006|PMID:4146757|PMID:7954831 11742110 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:10283 prostate cancer ISO RGD:1351228 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland (human) PMID:19141649|REF_RGD_ID:11554027 11742110 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1351228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability PMID:11940089|PMID:25741868|PMID:28492532 11742110 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1351228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15809997 11742110 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1351228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11742110 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:1351228 D RGD:9068941 20200609 RGD protein:increased expression:breast (human) PMID:19141649|REF_RGD_ID:11554027 11742110 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:630 genetic disease ISO RGD:1351228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11093277|PMID:11940089|PMID:17847065|PMID:19261807|PMID:20082460|PMID:21739585|PMID:23211637|PMID:23375260|PMID:24033266|PMID:25046119|PMID:25741868|PMID:26029706|PMID:26467025|PMID:27959697|PMID:28492532|PMID:8969170 11742110 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:6683 X-linked Aarskog syndrome ISO RGD:1351228 D RGD:7240710 20180130 OMIM 11742110 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:9000067 Congenital Foot Deformities ISO RGD:1351228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11940089 11742110 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:9001611 Urogenital Abnormalities ISO RGD:1351228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10930571|PMID:11093277|PMID:7954831 11742110 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1351228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11940089 11742110 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:9006257 Growth Disorders ISO RGD:1351228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10930571|PMID:11093277|PMID:11940089|PMID:7954831 11742110 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1351228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11093277 11742110 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1351228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7954831 11742132 CLASP2 cytoplasmic linker associated protein 2 gene DOID:630 genetic disease ISO RGD:733933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742176 ENPEP glutamyl aminopeptidase gene DOID:630 genetic disease ISO RGD:732266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742176 ENPEP glutamyl aminopeptidase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11742176 ENPEP glutamyl aminopeptidase gene DOID:9002165 Diabetic Nephropathies ISO RGD:732266 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:28468961 11742205 MBD5 methyl-CpG binding domain protein 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1344111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders PMID:23422940|PMID:23587880|PMID:25741868|PMID:28492532|PMID:30763456 11742205 MBD5 methyl-CpG binding domain protein 5 gene DOID:0060224 atrial fibrillation ISO RGD:1344111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 11742205 MBD5 methyl-CpG binding domain protein 5 gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:1623858 D RGD:9068941 20220825 MouseDO 11742205 MBD5 methyl-CpG binding domain protein 5 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1344111 D RGD:7240710 20180130 OMIM 11742205 MBD5 methyl-CpG binding domain protein 5 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1344111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:16199547|PMID:17576681|PMID:17847001|PMID:19809484|PMID:19904302|PMID:21981781|PMID:22726846|PMID:23055267|PMID:23422940|PMID:23587880|PMID:23632792|PMID:24885232|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27222293|PMID:28008202|PMID:28454995|PMID:28492532|PMID:29655203|PMID:31820818|PMID:32193494|PMID:32238909|PMID:33427406|PMID:9536098 11742205 MBD5 methyl-CpG binding domain protein 5 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1344111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: developmental delay with intractable seizures PMID:26467025|PMID:28492532 11742205 MBD5 methyl-CpG binding domain protein 5 gene DOID:1059 intellectual disability ISO RGD:1344111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:30763456 11742205 MBD5 methyl-CpG binding domain protein 5 gene DOID:10907 microcephaly ISO RGD:1344111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11742205 MBD5 methyl-CpG binding domain protein 5 gene DOID:12849 autistic disorder ISO RGD:1344111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:21681106|PMID:30208311 11742205 MBD5 methyl-CpG binding domain protein 5 gene DOID:1826 epilepsy ISO RGD:1344111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 11742205 MBD5 methyl-CpG binding domain protein 5 gene DOID:5419 schizophrenia ISO RGD:1344111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11742205 MBD5 methyl-CpG binding domain protein 5 gene DOID:630 genetic disease ISO RGD:1344111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17847001|PMID:21981781|PMID:23055267|PMID:23422940|PMID:23587880|PMID:25741868|PMID:26467025|PMID:27222293|PMID:28008202|PMID:28492532|PMID:30763456 11742205 MBD5 methyl-CpG binding domain protein 5 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:1344111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:25741868|PMID:28492532 11742205 MBD5 methyl-CpG binding domain protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11742205 MBD5 methyl-CpG binding domain protein 5 gene DOID:9005603 Muscle Hypotonia ISO RGD:1344111 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypotonia PMID:25741868 11742205 MBD5 methyl-CpG binding domain protein 5 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1344111 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:25741868|PMID:28492532 11742236 CORIN corin, serine peptidase gene DOID:10283 prostate cancer ISO RGD:1343750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11742236 CORIN corin, serine peptidase gene DOID:10591 pre-eclampsia ISO RGD:1343750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11742236 CORIN corin, serine peptidase gene DOID:10763 hypertension ISO RGD:1343750 D RGD:9068941 20200609 RGD PMID:16216958|REF_RGD_ID:1581219 11742236 CORIN corin, serine peptidase gene DOID:10763 hypertension ISO RGD:1343750 D RGD:9068941 20200609 RGD DNA:SNPs:associated with increased risk PMID:17485366|REF_RGD_ID:1626338 11742236 CORIN corin, serine peptidase gene DOID:6000 congestive heart failure ISO RGD:727887 D RGD:9068941 20200609 RGD mRNA:decreased expression:left atrium, right atrium (rat) PMID:15155264|REF_RGD_ID:1581218 11742236 CORIN corin, serine peptidase gene DOID:6000 congestive heart failure ISO RGD:727887 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (rat) PMID:15191894|REF_RGD_ID:1581217 11742236 CORIN corin, serine peptidase gene DOID:630 genetic disease ISO RGD:1343750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742236 CORIN corin, serine peptidase gene DOID:9003936 Cardiomegaly ISO RGD:1343750 D RGD:9068941 20200609 RGD DNA:SNPs:associated with increased risk PMID:17485366|REF_RGD_ID:1626338 11742236 CORIN corin, serine peptidase gene DOID:9003936 Cardiomegaly ISO RGD:727887 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (rat) PMID:15191894|REF_RGD_ID:1581217 11742236 CORIN corin, serine peptidase gene DOID:9008441 Preeclampsia/Eclampsia 5 ISO RGD:1343750 D RGD:7240710 20180130 OMIM 11742236 CORIN corin, serine peptidase gene DOID:9008441 Preeclampsia/Eclampsia 5 ISO RGD:1343750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Preeclampsia/eclampsia 5 PMID:22437503|PMID:24828501|PMID:25741868|PMID:28492532 11742282 AQP2 aquaporin 2 gene DOID:0050700 cardiomyopathy ISO RGD:70370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12145768 11742282 AQP2 aquaporin 2 gene DOID:0081061 nephrogenic diabetes insipidus type 2 ISO RGD:70370 D RGD:7240710 20210630 OMIM 11742282 AQP2 aquaporin 2 gene DOID:0081061 nephrogenic diabetes insipidus type 2 ISO RGD:70370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes insipidus, nephrogenic, autosomal PMID:10228154|PMID:10564236|PMID:10574954|PMID:10770218|PMID:10997928|PMID:11035038|PMID:11076974|PMID:11143979|PMID:11374071|PMID:11536078|PMID:11853799|PMID:11929850|PMID:12050236|PMID:12191971|PMID:14593099|PMID:14599123|PMID:15509592|PMID:16120822|PMID:16199547|PMID:16845277|PMID:17192724|PMID:18431594|PMID:18854434|PMID:19147915|PMID:19293543|PMID:19458121|PMID:20403973|PMID:20711567|PMID:22498392|PMID:22644838|PMID:22778181|PMID:23950570|PMID:24033266|PMID:25741868|PMID:26069764|PMID:26442203|PMID:26467025|PMID:27151922|PMID:27156763|PMID:27641679|PMID:28492532|PMID:30773290|PMID:30784238|PMID:33532864|PMID:7512890|PMID:7524315|PMID:7537761|PMID:8793791|PMID:9024277|PMID:9048343|PMID:9302264|PMID:9550615|PMID:9593782|PMID:9649557|PMID:9745427 11742282 AQP2 aquaporin 2 gene DOID:10763 hypertension ISO RGD:2142 D RGD:9068941 20200609 RGD protein:decreased expression:kidney medulla PMID:16788141|REF_RGD_ID:1601242 11742282 AQP2 aquaporin 2 gene DOID:10763 hypertension ISO RGD:2142 D RGD:9068941 20200609 RGD protein:increased expression:kidney medulla PMID:16582573|REF_RGD_ID:1601243 11742282 AQP2 aquaporin 2 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:70370 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Nephrogenic diabetes insipidus PMID:10228154|PMID:10564236|PMID:10574954|PMID:10770218|PMID:10997928|PMID:11076974|PMID:11143979|PMID:11374071|PMID:14593099|PMID:15509592|PMID:16120822|PMID:16361827|PMID:17192724|PMID:18431594|PMID:18470935|PMID:19458121|PMID:20403973|PMID:22644838|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27156763|PMID:27641679|PMID:28492532|PMID:7524315|PMID:7537761|PMID:8793791|PMID:9024277|PMID:9048343|PMID:9550615|PMID:9593782 11742282 AQP2 aquaporin 2 gene DOID:1837 diabetic ketoacidosis ISO RGD:70370 D RGD:9068941 20200609 RGD PMID:12021537|REF_RGD_ID:2314345 11742282 AQP2 aquaporin 2 gene DOID:630 genetic disease ISO RGD:70370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11742282 AQP2 aquaporin 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:70370 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased secretion:urine PMID:12218327|REF_RGD_ID:2314343 11742282 AQP2 aquaporin 2 gene DOID:9005274 Polyuria ISO RGD:2142 D RGD:9068941 20201211 RGD protein:decreased expression:total kidney membrane fraction (rat) PMID:10919858|REF_RGD_ID:2314654 11742282 AQP2 aquaporin 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10182 D RGD:9068941 20200609 RGD protein:decreased expression:kidney collecting duct PMID:15705184|REF_RGD_ID:2314326 11742282 AQP2 aquaporin 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2142 D RGD:9068941 20200609 RGD protein:increased expression:Kidney Medulla PMID:11380083|REF_RGD_ID:2314347 11742282 AQP2 aquaporin 2 gene DOID:9409 diabetes insipidus ISO RGD:2142 D RGD:9068941 20201211 RGD protein:decreased expression:total kidney membrane fraction (rat) PMID:10919858|REF_RGD_ID:2314654 11742282 Aqp2 aquaporin 2 gene DOID:11111 hydronephrosis ISO RGD:10182 D RGD:9068941 20200609 RGD DNA:mutation:exon:g.767C>T(mouse) PMID:16641094|REF_RGD_ID:2314310 11742290 IGFBP4 insulin like growth factor binding protein 4 gene DOID:630 genetic disease ISO RGD:69043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742298 REEP4 receptor accessory protein 4 gene DOID:630 genetic disease ISO RGD:1315250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742298 REEP4 receptor accessory protein 4 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1315250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 11742314 FGF17 fibroblast growth factor 17 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:733951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11742314 FGF17 fibroblast growth factor 17 gene DOID:0090082 hypogonadotropic hypogonadism 20 with or without anosmia ISO RGD:733951 D RGD:7240710 20180130 OMIM 11742314 FGF17 fibroblast growth factor 17 gene DOID:0090082 hypogonadotropic hypogonadism 20 with or without anosmia ISO RGD:733951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 20 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 20 without anosmia PMID:21700882|PMID:23643382|PMID:6881209 11742314 FGF17 fibroblast growth factor 17 gene DOID:630 genetic disease ISO RGD:733951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742314 FGF17 fibroblast growth factor 17 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:733951 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 11742331 COQ10B coenzyme Q10B gene DOID:630 genetic disease ISO RGD:1604595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742331 COQ10B coenzyme Q10B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11742340 NYNRIN NYN domain and retroviral integrase containing gene DOID:0060439 lysinuric protein intolerance ISO RGD:1345252 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11742340 NYNRIN NYN domain and retroviral integrase containing gene DOID:630 genetic disease ISO RGD:1345252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742340 NYNRIN NYN domain and retroviral integrase containing gene DOID:687 hepatoblastoma ISO RGD:1345252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 11742340 NYNRIN NYN domain and retroviral integrase containing gene DOID:9000265 Specific Granule Deficiency ISO RGD:1345252 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11742340 NYNRIN NYN domain and retroviral integrase containing gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1345252 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11742353 PSMF1 proteasome inhibitor subunit 1 gene DOID:630 genetic disease ISO RGD:1345633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742367 ZNF14 zinc finger protein 14 gene DOID:630 genetic disease ISO RGD:1351207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742376 TM2D2 TM2 domain containing 2 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1602456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 11742376 TM2D2 TM2 domain containing 2 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1602456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 11742376 TM2D2 TM2 domain containing 2 gene DOID:607 paraplegia ISO RGD:1602456 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11742376 TM2D2 TM2 domain containing 2 gene DOID:630 genetic disease ISO RGD:1602456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742384 TEX14 testis expressed 14, intercellular bridge forming factor gene DOID:0050777 Joubert syndrome ISO RGD:1313466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11742384 TEX14 testis expressed 14, intercellular bridge forming factor gene DOID:0070168 spermatogenic failure 3 ISO RGD:1313466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:28492532|PMID:31479588 11742384 TEX14 testis expressed 14, intercellular bridge forming factor gene DOID:0070181 spermatogenic failure 23 ISO RGD:1313466 D RGD:7240710 20190315 OMIM 11742384 TEX14 testis expressed 14, intercellular bridge forming factor gene DOID:0070181 spermatogenic failure 23 ISO RGD:1313466 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 23 PMID:25741868|PMID:28206990|PMID:28492532|PMID:29790874|PMID:31479588 11742384 TEX14 testis expressed 14, intercellular bridge forming factor gene DOID:0111096 Fanconi anemia complementation group O ISO RGD:1313466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group O PMID:28492532 11742384 TEX14 testis expressed 14, intercellular bridge forming factor gene DOID:10283 prostate cancer ISO RGD:1313466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11742384 TEX14 testis expressed 14, intercellular bridge forming factor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 11742384 TEX14 testis expressed 14, intercellular bridge forming factor gene DOID:630 genetic disease ISO RGD:1313466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742426 NDUFA4L2 NDUFA4 mitochondrial complex associated like 2 gene DOID:630 genetic disease ISO RGD:1601990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742426 NDUFA4L2 NDUFA4 mitochondrial complex associated like 2 gene DOID:6846 familial melanoma ISO RGD:1601990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 11742426 NDUFA4L2 NDUFA4 mitochondrial complex associated like 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1601990 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 11742438 CFAP36 cilia and flagella associated protein 36 gene DOID:630 genetic disease ISO RGD:1603927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742454 TUBAL3 tubulin alpha like 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1313230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11742454 TUBAL3 tubulin alpha like 3 gene DOID:5419 schizophrenia ISO RGD:1313230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11742454 TUBAL3 tubulin alpha like 3 gene DOID:630 genetic disease ISO RGD:1313230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742464 SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1320698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:11528500|PMID:23105016|PMID:28492532 11742464 SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:0112228 lissencephaly 9 with complex brainstem malformation ISO RGD:1320698 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lissencephaly 9 with complex brainstem malformation PMID:25741868 11742464 SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1320698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 11742464 SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:630 genetic disease ISO RGD:1320698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742464 SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:9000340 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM ISO RGD:1320698 D RGD:7240710 20211027 OMIM 11742464 SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:9000340 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM ISO RGD:1320698 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum PMID:25741868|PMID:31924697 11742464 SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11742464 SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1320698 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11742464 SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:9565 dextrocardia ISO RGD:1320698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dextrocardia 11742495 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:68580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:19732866|PMID:22586289|PMID:28492532 11742495 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:68580 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11742495 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:1059 intellectual disability ISO RGD:68580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11742495 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:10763 hypertension ISO RGD:68580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15220217 11742495 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:10763 hypertension ISO RGD:68580 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2276047,snp8,rs9886(human) PMID:15220217|REF_RGD_ID:1626127 11742495 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:630 genetic disease ISO RGD:68580 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11742495 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:68580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11742495 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:9002202 Opsismodysplasia ISO RGD:68580 D RGD:7240710 20180130 OMIM 11742495 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:9002202 Opsismodysplasia ISO RGD:68580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Opsismodysplasia PMID:17952091|PMID:23273567|PMID:23273569|PMID:25741868|PMID:25997753|PMID:27708270|PMID:28492532|PMID:28869677|PMID:29276006 11742495 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:68580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15220217 11742495 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:68580 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2276047,snp8(human) PMID:15220217|REF_RGD_ID:1626127 11742495 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:9007692 Insulin Resistance ISO RGD:68396 D RGD:9068941 20200609 RGD PMID:12453826|REF_RGD_ID:2312442 11742495 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:9007692 Insulin Resistance ISO RGD:68396 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X PMID:17327370|REF_RGD_ID:2312440 11742495 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:68580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12086927|PMID:25635986 11742495 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:68580 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2276047,snp8(human) PMID:15220217|REF_RGD_ID:1626127 11742495 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:68580 D RGD:9068941 20200609 RGD DNA:deletion:3' utr (human) PMID:12086927|REF_RGD_ID:633161 11742495 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:9970 obesity ISO RGD:68580 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2276047,snp8,rs9886(human) PMID:15220217|REF_RGD_ID:1626127 11742495 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:9993 hypoglycemia ISO RGD:68581 D RGD:9068941 20200609 RGD PMID:11343120|REF_RGD_ID:737755 11742531 SH2D3C SH2 domain containing 3C gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316391 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11742531 SH2D3C SH2 domain containing 3C gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316391 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11742531 SH2D3C SH2 domain containing 3C gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1316391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11742531 SH2D3C SH2 domain containing 3C gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1316391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 11742531 SH2D3C SH2 domain containing 3C gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316391 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11742531 SH2D3C SH2 domain containing 3C gene DOID:630 genetic disease ISO RGD:1316391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742565 LRFN5 leucine rich repeat and fibronectin type III domain containing 5 gene DOID:630 genetic disease ISO RGD:1319662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742565 LRFN5 leucine rich repeat and fibronectin type III domain containing 5 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319662 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11742575 UPP1 uridine phosphorylase 1 gene DOID:0060496 respiratory allergy ISO RGD:1313669 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24211530 11742575 UPP1 uridine phosphorylase 1 gene DOID:2843 long QT syndrome ISO RGD:1313669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11742575 UPP1 uridine phosphorylase 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1313669 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 11742575 UPP1 uridine phosphorylase 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:1305566 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain (rat) PMID:18457515|REF_RGD_ID:2317094 11742575 UPP1 uridine phosphorylase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11742593 PYGM glycogen phosphorylase, muscle associated gene DOID:0080000 muscular disease ISO RGD:737329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18380285 11742593 PYGM glycogen phosphorylase, muscle associated gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:737329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11742593 PYGM glycogen phosphorylase, muscle associated gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:737329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:28492532 11742593 PYGM glycogen phosphorylase, muscle associated gene DOID:1059 intellectual disability ISO RGD:737329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11742593 PYGM glycogen phosphorylase, muscle associated gene DOID:13580 cholestasis ISO RGD:3461 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:11804660|REF_RGD_ID:1599990 11742593 PYGM glycogen phosphorylase, muscle associated gene DOID:1935 Bardet-Biedl syndrome ISO RGD:737329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11742593 PYGM glycogen phosphorylase, muscle associated gene DOID:2746 glycogen storage disease V ISO RGD:737329 D RGD:7240710 20180130 OMIM 11742593 PYGM glycogen phosphorylase, muscle associated gene DOID:2746 glycogen storage disease V ISO RGD:737329 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V | ClinVar Annotator: match by term: McArdle disease, mild | ClinVar Annotator: match by term: Myophosphorylase deficiency PMID:10417800|PMID:10450796|PMID:10590419|PMID:1067063|PMID:10679948|PMID:10681080|PMID:10714589|PMID:11168025|PMID:11706962|PMID:11749054|PMID:12031624|PMID:12118255|PMID:12398832|PMID:12508303|PMID:12929201|PMID:14568816|PMID:14638972|PMID:14722619|PMID:14748827|PMID:15979037|PMID:16154688|PMID:16199547|PMID:16786513|PMID:16793208|PMID:16924035|PMID:17172620|PMID:17221871|PMID:17324573|PMID:17404776|PMID:17560787|PMID:17576681|PMID:17630210|PMID:17705025|PMID:17876739|PMID:17915571|PMID:17994553|PMID:18067156|PMID:18162322|PMID:18641458|PMID:19232494|PMID:19251976|PMID:19433441|PMID:19472443|PMID:19670320|PMID:20301518|PMID:20683610|PMID:20957198|PMID:21520335|PMID:21658951|PMID:21802952|PMID:21880526|PMID:22250184|PMID:22608882|PMID:22730558|PMID:22818872|PMID:22832773|PMID:22899091|PMID:23653251|PMID:2391551|PMID:24033266|PMID:24503134|PMID:25044680|PMID:25045239|PMID:25240406|PMID:25525159|PMID:25640679|PMID:25740218|PMID:25741863|PMID:25741868|PMID:25873271|PMID:25914343|PMID:25987006|PMID:26032558|PMID:26115788|PMID:26436962|PMID:26633542|PMID:26913921|PMID:26944031|PMID:27032803|PMID:2703328|PMID:28492532|PMID:28967462|PMID:29143597|PMID:29382405|PMID:30316539|PMID:30415384|PMID:31319225|PMID:31589614|PMID:32075227|PMID:32386344|PMID:32735634|PMID:34008892|PMID:34215481|PMID:34373715|PMID:34426522|PMID:34534370|PMID:3476861|PMID:34906502|PMID:7951211|PMID:7951262|PMID:8279469|PMID:8316268|PMID:8401511|PMID:8535454|PMID:9120482|PMID:9131647|PMID:9152836|PMID:9506549|PMID:9536098|PMID:9633816|PMID:9674815 11742593 PYGM glycogen phosphorylase, muscle associated gene DOID:3070 high grade glioma ISO RGD:737329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11742593 PYGM glycogen phosphorylase, muscle associated gene DOID:423 myopathy ISO RGD:737329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:28492532 11742593 PYGM glycogen phosphorylase, muscle associated gene DOID:630 genetic disease ISO RGD:737329 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10450796|PMID:1067063|PMID:11168025|PMID:11706962|PMID:12929201|PMID:14748827|PMID:16199547|PMID:16786513|PMID:17172620|PMID:17221871|PMID:17324573|PMID:17404776|PMID:17915571|PMID:17994553|PMID:20301518|PMID:21802952|PMID:22250184|PMID:22730558|PMID:23653251|PMID:2391551|PMID:24033266|PMID:25240406|PMID:25740218|PMID:25741868|PMID:25873271|PMID:25914343|PMID:2703328|PMID:28492532|PMID:29143597|PMID:30415384|PMID:32386344|PMID:3476861|PMID:8279469|PMID:8316268|PMID:8401511|PMID:9131647|PMID:9152836|PMID:9506549|PMID:9674815 11742593 PYGM glycogen phosphorylase, muscle associated gene DOID:767 muscular atrophy ISO RGD:737329 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Muscular atrophy PMID:1067063|PMID:11168025|PMID:11706962|PMID:12929201|PMID:14748827|PMID:16786513|PMID:17172620|PMID:17221871|PMID:17324573|PMID:17404776|PMID:17915571|PMID:17994553|PMID:20301518|PMID:21802952|PMID:22250184|PMID:22730558|PMID:23653251|PMID:2391551|PMID:24033266|PMID:25240406|PMID:25740218|PMID:25741868|PMID:25873271|PMID:25914343|PMID:28492532|PMID:29143597|PMID:32386344|PMID:3476861|PMID:8316268|PMID:8401511|PMID:9131647|PMID:9506549|PMID:9674815 11742593 PYGM glycogen phosphorylase, muscle associated gene DOID:9002189 High Myopia ISO RGD:737329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:25741868|PMID:28492532 11742593 PYGM glycogen phosphorylase, muscle associated gene DOID:9003936 Cardiomegaly ISO RGD:3461 D RGD:9068941 20200609 RGD mRNA:increased expression:cardiocyte PMID:14618266|REF_RGD_ID:1599987 11742593 PYGM glycogen phosphorylase, muscle associated gene DOID:9005246 Paralysis ISO RGD:3461 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:skeletal muscle PMID:8769807|REF_RGD_ID:1599993 11742593 PYGM glycogen phosphorylase, muscle associated gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3461 D RGD:9068941 20200609 RGD protein:increased expression:sarcoplasmic reticulum PMID:11692172|REF_RGD_ID:1599897 11742593 PYGM glycogen phosphorylase, muscle associated gene DOID:9007102 Myocardial Ischemia ISO RGD:3461 D RGD:9068941 20200609 RGD PMID:10498852|REF_RGD_ID:1599991 11742621 TNFRSF18 TNF receptor superfamily member 18 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11742621 TNFRSF18 TNF receptor superfamily member 18 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604651 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11742621 TNFRSF18 TNF receptor superfamily member 18 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1604651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11742621 TNFRSF18 TNF receptor superfamily member 18 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1604651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11742621 TNFRSF18 TNF receptor superfamily member 18 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1604651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11742621 TNFRSF18 TNF receptor superfamily member 18 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1604651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11742621 TNFRSF18 TNF receptor superfamily member 18 gene DOID:0111934 immunodeficiency 38 ISO RGD:1604651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11742621 TNFRSF18 TNF receptor superfamily member 18 gene DOID:0111935 immunodeficiency 16 ISO RGD:1604651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11742621 TNFRSF18 TNF receptor superfamily member 18 gene DOID:11168 anogenital venereal wart ISO RGD:1604651 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 11742621 TNFRSF18 TNF receptor superfamily member 18 gene DOID:321 tropical spastic paraparesis ISO RGD:1604651 D RGD:9068941 20200831 RGD mRNA:decreased expression: T cell PMID:20945034|REF_RGD_ID:38549361 11742621 TNFRSF18 TNF receptor superfamily member 18 gene DOID:321 tropical spastic paraparesis disease_progression ISO RGD:1604651 D RGD:9068941 20200813 RGD PMID:28101786|REF_RGD_ID:38456004 11742621 TNFRSF18 TNF receptor superfamily member 18 gene DOID:630 genetic disease ISO RGD:1604651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742621 TNFRSF18 TNF receptor superfamily member 18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11742621 TNFRSF18 TNF receptor superfamily member 18 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1604651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11742621 TNFRSF18 TNF receptor superfamily member 18 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1604651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11742621 TNFRSF18 TNF receptor superfamily member 18 gene DOID:9065 leishmaniasis ISO RGD:1604651 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20139272 11742635 MECOM MDS1 and EVI1 complex locus gene DOID:0070004 myeloid neoplasm ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29047144 11742635 MECOM MDS1 and EVI1 complex locus gene DOID:0070004 myeloid neoplasm ISO RGD:1322216 D RGD:9068941 20200609 RGD DNA:translocation: : PMID:9044825|REF_RGD_ID:10450608 11742635 MECOM MDS1 and EVI1 complex locus gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1322216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:25741868|PMID:27192671 11742635 MECOM MDS1 and EVI1 complex locus gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1322216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma 11742635 MECOM MDS1 and EVI1 complex locus gene DOID:1037 lymphoid leukemia ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770046 11742635 MECOM MDS1 and EVI1 complex locus gene DOID:1062 Fanconi syndrome ISO RGD:1322216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 11742635 MECOM MDS1 and EVI1 complex locus gene DOID:10754 otitis media ISO RGD:1322217 D RGD:9068941 20200609 RGD PMID:26611891|REF_RGD_ID:11054805 11742635 MECOM MDS1 and EVI1 complex locus gene DOID:10754 otitis media ISO RGD:1322217 D RGD:9068941 20220825 MouseDO OMIM:166760 11742635 MECOM MDS1 and EVI1 complex locus gene DOID:12450 pancytopenia ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 11742635 MECOM MDS1 and EVI1 complex locus gene DOID:1588 thrombocytopenia ISO RGD:1322216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 11742635 MECOM MDS1 and EVI1 complex locus gene DOID:1788 peritoneal mesothelioma ISO RGD:1322216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant peritoneal mesothelioma 11742635 MECOM MDS1 and EVI1 complex locus gene DOID:2213 hemorrhagic disease ISO RGD:1322216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:28492532|PMID:32935436 11742635 MECOM MDS1 and EVI1 complex locus gene DOID:5426 primary ovarian insufficiency ISO RGD:1322216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11742635 MECOM MDS1 and EVI1 complex locus gene DOID:630 genetic disease ISO RGD:1322216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11742635 MECOM MDS1 and EVI1 complex locus gene DOID:8692 myeloid leukemia ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770046 11742635 MECOM MDS1 and EVI1 complex locus gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29047144 11742635 MECOM MDS1 and EVI1 complex locus gene DOID:9002720 Splenomegaly ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 11742635 MECOM MDS1 and EVI1 complex locus gene DOID:9002762 Ovarian Neoplasms ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770046 11742635 MECOM MDS1 and EVI1 complex locus gene DOID:9002928 Colonic Neoplasms ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770046 11742635 MECOM MDS1 and EVI1 complex locus gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20512145 11742635 MECOM MDS1 and EVI1 complex locus gene DOID:9005539 Familial Prostate Cancer ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11742635 MECOM MDS1 and EVI1 complex locus gene DOID:9007517 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 ISO RGD:1322216 D RGD:7240710 20180130 OMIM 11742635 MECOM MDS1 and EVI1 complex locus gene DOID:9007517 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 ISO RGD:1322216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 PMID:20091385|PMID:25741868|PMID:26581901|PMID:28492532|PMID:29146883|PMID:29519864|PMID:34355501 11742635 MECOM MDS1 and EVI1 complex locus gene DOID:9008939 Breast Neoplasms ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770046 11742635 MECOM MDS1 and EVI1 complex locus gene DOID:9119 acute myeloid leukemia ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30472098 11742635 MECOM MDS1 and EVI1 complex locus gene DOID:9827 radioulnar synostosis ISO RGD:1322216 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Radioulnar synostosis 11742680 ABI1 abl interactor 1 gene DOID:0070239 primary coenzyme Q10 deficiency 2 ISO RGD:1604650 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome PMID:25741868 11742680 ABI1 abl interactor 1 gene DOID:630 genetic disease ISO RGD:1604650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742680 ABI1 abl interactor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1604650 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:0050160 inhalation anthrax disease_progression ISO RGD:1332044 D RGD:9068941 20200609 RGD PMID:21124994|REF_RGD_ID:5135283 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:0080600 COVID-19 ISO RGD:1348195 D RGD:9068941 20200618 RGD protein:increased expression:serum: PMID:32416070|REF_RGD_ID:30296676 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:0080600 COVID-19 ISO RGD:1348195 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:0080600 COVID-19 severity ISO RGD:1348195 D RGD:9068941 20200618 RGD protein:increased expression:plasma (human) PMID:32360286|REF_RGD_ID:30309209 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:1332044 D RGD:9068941 20200618 RGD PMID:30626685|REF_RGD_ID:30309198 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:0081267 graft-versus-host disease ISO RGD:1332044 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:intestine, liver, lung PMID:19218194|REF_RGD_ID:5135435 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:10247 pleurisy ISO RGD:1332044 D RGD:9068941 20200609 RGD PMID:14527170|REF_RGD_ID:5135449 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:10533 viral pneumonia ISO RGD:1332044 D RGD:9068941 20200609 RGD PMID:17655904|REF_RGD_ID:5135437 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:10608 celiac disease ISO RGD:1348195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:1205 allergic disease ISO RGD:1348195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:12236 primary biliary cholangitis ISO RGD:1348195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18422935 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1332044 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:15916706|REF_RGD_ID:5135444 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:13001 carotid stenosis ISO RGD:1348195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26564003 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1348195 D RGD:9068941 20200609 RGD protein:increased expression:serum, respiratory system fluid/secretion PMID:17550373|REF_RGD_ID:5135438 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:13949 interstitial cystitis ISO RGD:1348195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18957084 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:14004 thoracic aortic aneurysm severity ISO RGD:1348195 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:16014397|REF_RGD_ID:5135442 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:14095 boutonneuse fever ISO RGD:1332044 D RGD:9068941 20200609 RGD PMID:14507644|REF_RGD_ID:5135450 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:1485 cystic fibrosis ISO RGD:1348195 D RGD:9068941 20200609 RGD PMID:19597126|REF_RGD_ID:5135456 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:1790 malignant mesothelioma ISO RGD:1348195 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:2799 bronchiolitis obliterans ISO RGD:1332044 D RGD:9068941 20200609 RGD PMID:12097412|PMID:16709871|REF_RGD_ID:5135441|REF_RGD_ID:5135451 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:2799 bronchiolitis obliterans ISO RGD:1348195 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:12097412|REF_RGD_ID:5135451 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:2841 asthma ISO RGD:1332044 D RGD:9068941 20200609 RGD PMID:15210824|REF_RGD_ID:5135447 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:289 endometriosis ISO RGD:1348195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30579999 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1332044 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:19906920|REF_RGD_ID:4891446 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1348195 D RGD:9068941 20200619 RGD mRNA, protein: increased expression, altered expression:lung (mouse) PMID:15356152|REF_RGD_ID:30309221 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1348195 D RGD:9068941 20200702 RGD protein:increased expression:bronchoalveolar lavage (human) PMID:15888207|REF_RGD_ID:34201108 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1348195 D RGD:9068941 20200702 RGD protein:increased expression:serum (human) PMID:15602737|REF_RGD_ID:32716399 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1348195 D RGD:9068941 20200702 RGD protein:increased expression:plasma (human) PMID:16195357|REF_RGD_ID:30309218 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1348195 D RGD:9068941 20200619 RGD PMID:15781938|REF_RGD_ID:30309220 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:3082 interstitial lung disease ISO RGD:1348195 D RGD:9068941 20200609 RGD protein:increased expression:alveolar macrophage PMID:19816001|REF_RGD_ID:5135305 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:3082 interstitial lung disease ISO RGD:1348195 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19565490|REF_RGD_ID:5135306 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1348195 D RGD:9068941 20200609 RGD PMID:19229703|REF_RGD_ID:4892070 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1348195 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:17925429|REF_RGD_ID:5135436 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:399 tuberculosis ISO RGD:1348195 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19281538|REF_RGD_ID:5135308 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:418 systemic scleroderma ISO RGD:1348195 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21049277|PMID:21303517|REF_RGD_ID:5135279|REF_RGD_ID:5135284 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:552 pneumonia ISO RGD:1332044 D RGD:9068941 20200609 RGD PMID:15265940|REF_RGD_ID:5135445 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:552 pneumonia ISO RGD:1348195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:552 pneumonia ISO RGD:1348195 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17052299|REF_RGD_ID:5135440 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:630 genetic disease ISO RGD:1348195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1332044 D RGD:9068941 20200609 RGD PMID:14991597|REF_RGD_ID:5135448 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1348195 D RGD:9068941 20200609 RGD mRNA:increased expression:alveolar macrophage PMID:15725351|REF_RGD_ID:5135490 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:8544 chronic fatigue syndrome ISO RGD:1348195 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:26615570|REF_RGD_ID:11538286 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:874 bacterial pneumonia ISO RGD:1332044 D RGD:9068941 20200609 RGD PMID:15618188|REF_RGD_ID:5135459 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1348195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1348195 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1348195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1332044 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20381636|REF_RGD_ID:5135285 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1332044 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:21273392|REF_RGD_ID:5683877 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:9003617 Carrington Syndrome ISO RGD:1348195 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:15956791|REF_RGD_ID:5135443 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:9004009 Reperfusion Injury ISO RGD:1332044 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;protein:increased expression:lung PMID:19433855|REF_RGD_ID:5135307 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1348195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:9007244 Paramyxoviridae Infections ISO RGD:1348195 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucus PMID:20182399|REF_RGD_ID:4891406 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:628798 D RGD:9068941 20200609 RGD PMID:15843529|REF_RGD_ID:1598501 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:9008939 Breast Neoplasms ISO RGD:1348195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:9675 pulmonary emphysema ISO RGD:1348195 D RGD:9068941 20200609 RGD protein:increased expression:lung, lymphocyte PMID:15526056|REF_RGD_ID:4892104 11742711 CXCL9 C-X-C motif chemokine ligand 9 gene DOID:986 alopecia areata ISO RGD:1348195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22358057 11742730 KCNA7 potassium voltage-gated channel subfamily A member 7 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1320074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11742730 KCNA7 potassium voltage-gated channel subfamily A member 7 gene DOID:0111076 progressive familial heart block type IB ISO RGD:1320074 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:28492532 11742730 KCNA7 potassium voltage-gated channel subfamily A member 7 gene DOID:630 genetic disease ISO RGD:1320074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742762 TAX1BP3 Tax1 binding protein 3 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1318972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy PMID:25645515|PMID:25741868|PMID:32576985 11742762 TAX1BP3 Tax1 binding protein 3 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1318972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25645515|PMID:25741868|PMID:32576985 11742762 TAX1BP3 Tax1 binding protein 3 gene DOID:1064 cystinosis ISO RGD:1318972 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cystinosin, defect of | ClinVar Annotator: match by term: Cystinosis PMID:24385851 11742762 TAX1BP3 Tax1 binding protein 3 gene DOID:3613 Canavan disease ISO RGD:1318972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 11742762 TAX1BP3 Tax1 binding protein 3 gene DOID:630 genetic disease ISO RGD:1318972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10909858|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 11742762 TAX1BP3 Tax1 binding protein 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11742762 TAX1BP3 Tax1 binding protein 3 gene DOID:9002714 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type ISO RGD:1318972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE PMID:10909858|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 11742762 TAX1BP3 Tax1 binding protein 3 gene DOID:9004409 Abderhalden-Kaufmann-Lignac Syndrome ISO RGD:1318972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abderhalden Lignac Kaufmann disease | ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome 11742762 TAX1BP3 Tax1 binding protein 3 gene DOID:9007952 Cystinosis, Ocular Nonnephropathic ISO RGD:1318972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic PMID:10909858|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 11742770 BPIFB4 BPI fold containing family B member 4 gene DOID:630 genetic disease ISO RGD:1344811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742793 TMEM151B transmembrane protein 151B gene DOID:11612 polycystic ovary syndrome ISO RGD:1350981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11742793 TMEM151B transmembrane protein 151B gene DOID:630 genetic disease ISO RGD:1350981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742802 SIGLECL1 SIGLEC family like 1 gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1602049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:16510302|PMID:23785301|PMID:28492532 11742802 SIGLECL1 SIGLEC family like 1 gene DOID:630 genetic disease ISO RGD:1602049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742812 FEM1B fem-1 homolog B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1312083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11742812 FEM1B fem-1 homolog B gene DOID:2717 Bloom syndrome ISO RGD:1312083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11742812 FEM1B fem-1 homolog B gene DOID:630 genetic disease ISO RGD:1312083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742812 FEM1B fem-1 homolog B gene DOID:9256 colorectal cancer ISO RGD:1312083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11742812 FEM1B fem-1 homolog B gene DOID:9352 type 2 diabetes mellitus ISO RGD:1312084 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 11742819 LYRM7 LYR motif containing 7 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1602082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11742819 LYRM7 LYR motif containing 7 gene DOID:0080117 mitochondrial complex III deficiency nuclear type 8 ISO RGD:1602082 D RGD:7240710 20180130 OMIM 11742819 LYRM7 LYR motif containing 7 gene DOID:0080117 mitochondrial complex III deficiency nuclear type 8 ISO RGD:1602082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 8 PMID:24014394|PMID:25741868|PMID:26912632|PMID:28492532 11742819 LYRM7 LYR motif containing 7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11742819 LYRM7 LYR motif containing 7 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1602082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:28492532 11742819 LYRM7 LYR motif containing 7 gene DOID:630 genetic disease ISO RGD:1602082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11742819 LYRM7 LYR motif containing 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11742819 LYRM7 LYR motif containing 7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11742828 CCDC39 coiled-coil domain containing 39 gene DOID:0050144 Kartagener syndrome ISO RGD:1332183 D RGD:9068941 20220825 MouseDO 11742828 CCDC39 coiled-coil domain containing 39 gene DOID:0050545 visceral heterotaxy ISO RGD:1605540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Situs ambiguus PMID:28492532 11742828 CCDC39 coiled-coil domain containing 39 gene DOID:0060041 autism spectrum disorder ISO RGD:1605540 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11742828 CCDC39 coiled-coil domain containing 39 gene DOID:0110000 3-methylglutaconic aciduria type 5 ISO RGD:1605540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 PMID:16055927|PMID:27928778|PMID:28492532 11742828 CCDC39 coiled-coil domain containing 39 gene DOID:0110598 primary ciliary dyskinesia 14 ISO RGD:1605540 D RGD:7240710 20180130 OMIM 11742828 CCDC39 coiled-coil domain containing 39 gene DOID:0110598 primary ciliary dyskinesia 14 ISO RGD:1605540 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 14 PMID:16199547|PMID:17576681|PMID:21131972|PMID:22499950|PMID:22693285|PMID:22693295|PMID:23255504|PMID:23891469|PMID:24033266|PMID:24498942|PMID:25118008|PMID:25186273|PMID:25741868|PMID:27637300|PMID:28492532|PMID:29748307|PMID:30067075|PMID:31213628|PMID:31650533|PMID:31772028|PMID:31980526|PMID:34768622|PMID:9536098 11742828 CCDC39 coiled-coil domain containing 39 gene DOID:0111546 Currarino syndrome ISO RGD:1605540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11742828 CCDC39 coiled-coil domain containing 39 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1605540 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 11742828 CCDC39 coiled-coil domain containing 39 gene DOID:10908 hydrocephalus ISO RGD:1306277 D RGD:9068941 20211112 RGD PMID:31771992|REF_RGD_ID:150521527 11742828 CCDC39 coiled-coil domain containing 39 gene DOID:10908 hydrocephalus ISO RGD:1332183 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 11742828 CCDC39 coiled-coil domain containing 39 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1605540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:21131972|PMID:23255504|PMID:24498942|PMID:25741868|PMID:28492532|PMID:30067075|PMID:31980526 11742828 CCDC39 coiled-coil domain containing 39 gene DOID:5223 infertility ISO RGD:1605540 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Infertility PMID:16199547|PMID:21131972|PMID:22693295|PMID:23255504|PMID:25741868|PMID:28492532 11742828 CCDC39 coiled-coil domain containing 39 gene DOID:630 genetic disease ISO RGD:1605540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11742828 CCDC39 coiled-coil domain containing 39 gene DOID:758 situs inversus ISO RGD:1605540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence PMID:28492532 11742828 CCDC39 coiled-coil domain containing 39 gene DOID:9004821 Fibrous Sheath Dysplasia ISO RGD:1605540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous Sheath Dysplasia 11742828 CCDC39 coiled-coil domain containing 39 gene DOID:9009131 Ventriculomegaly ISO RGD:1306277 D RGD:9068941 20211112 RGD PMID:31771992|REF_RGD_ID:150521527 11742828 CCDC39 coiled-coil domain containing 39 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:21131972|PMID:22406018|PMID:22499950|PMID:22693285|PMID:22693295|PMID:23255504|PMID:23891469|PMID:24033266|PMID:24498942|PMID:25118008|PMID:25186273|PMID:25640679|PMID:25741868|PMID:27637300|PMID:28230599|PMID:28492532|PMID:29748307|PMID:30067075|PMID:31213628|PMID:31650533|PMID:31772028|PMID:31980526|PMID:33005176|PMID:34768622|PMID:9536098 11742856 FRS3 fibroblast growth factor receptor substrate 3 gene DOID:0050444 infantile Refsum disease ISO RGD:1321005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11742856 FRS3 fibroblast growth factor receptor substrate 3 gene DOID:630 genetic disease ISO RGD:1321005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742856 FRS3 fibroblast growth factor receptor substrate 3 gene DOID:905 Zellweger syndrome ISO RGD:1321005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11742870 TREH trehalase gene DOID:0060017 CD3epsilon deficiency ISO RGD:736593 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11742870 TREH trehalase gene DOID:0060837 isolated microphthalmia 5 ISO RGD:736593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11742870 TREH trehalase gene DOID:0080690 RASopathy ISO RGD:736593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11742870 TREH trehalase gene DOID:0081330 glycogen storage disease Ib ISO RGD:736593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 11742870 TREH trehalase gene DOID:0110651 long QT syndrome 10 ISO RGD:736593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11742870 TREH trehalase gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:736593 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11742870 TREH trehalase gene DOID:0111971 immunodeficiency 18 ISO RGD:736593 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11742870 TREH trehalase gene DOID:0111972 immunodeficiency 19 ISO RGD:736593 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11742870 TREH trehalase gene DOID:0111973 immunodeficiency 17 ISO RGD:736593 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11742870 TREH trehalase gene DOID:630 genetic disease ISO RGD:736593 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11742870 TREH trehalase gene DOID:9001289 Trehalase Deficiency ISO RGD:736593 D RGD:7240710 20180130 OMIM 11742870 TREH trehalase gene DOID:9001289 Trehalase Deficiency ISO RGD:736593 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: alpha, alpha-Trehalase deficiency PMID:25741868|PMID:28406212 11742870 TREH trehalase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:736593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11742870 TREH trehalase gene DOID:9007661 Dwarfism ISO RGD:736593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11742896 AKAP8 A-kinase anchoring protein 8 gene DOID:2843 long QT syndrome ISO RGD:731444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11742896 AKAP8 A-kinase anchoring protein 8 gene DOID:630 genetic disease ISO RGD:731444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742920 LOC100973544 histone H2A type 2-A gene DOID:1540 parathyroid carcinoma ISO RGD:1604408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11742920 LOC100973544 histone H2A type 2-A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11742921 DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:0060891 Parkinson's disease 19A ISO RGD:1320495 D RGD:7240710 20180130 OMIM 11742921 DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:0060891 Parkinson's disease 19A ISO RGD:1320495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Juvenile onset Parkinson disease 19A | ClinVar Annotator: match by term: PARK19 | ClinVar Annotator: match by term: Parkinson disease 19B, early-onset PMID:16199547|PMID:17576681|PMID:2256350|PMID:22563501|PMID:23211418|PMID:24220513|PMID:25640679|PMID:25741868|PMID:26528954|PMID:26703368|PMID:28191889|PMID:28492532|PMID:31737044|PMID:32214227|PMID:32472658|PMID:32662538|PMID:33983693|PMID:9536098 11742921 DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:10283 prostate cancer ISO RGD:1320495 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:22563501|PMID:23211418|PMID:26528954|PMID:28492532 11742921 DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:1059 intellectual disability ISO RGD:1320495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11742921 DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:14330 Parkinson's disease ISO RGD:1320495 D RGD:9068941 20200609 RGD PMID:25639775|REF_RGD_ID:10450521 11742921 DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:630 genetic disease ISO RGD:1320495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26528954|PMID:28191889|PMID:28492532|PMID:31737044 11742921 DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:684 hepatocellular carcinoma ISO RGD:1320495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11742921 DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:9000609 Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus ISO RGD:1320495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus PMID:2256350|PMID:22563501|PMID:24220513|PMID:32214227|PMID:33983693 11742958 UBL3 ubiquitin like 3 gene DOID:630 genetic disease ISO RGD:1313456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742967 CNOT2 CCR4-NOT transcription complex subunit 2 gene DOID:630 genetic disease ISO RGD:1323253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742967 CNOT2 CCR4-NOT transcription complex subunit 2 gene DOID:9003704 Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies ISO RGD:1323253 D RGD:7240710 20191113 OMIM 11742967 CNOT2 CCR4-NOT transcription complex subunit 2 gene DOID:9003704 Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies ISO RGD:1323253 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies PMID:25741868|PMID:31145527|PMID:31512373 11742967 CNOT2 CCR4-NOT transcription complex subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11742997 RNF130 ring finger protein 130 gene DOID:630 genetic disease ISO RGD:1343865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11742997 RNF130 ring finger protein 130 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11743010 SERTM1 serine rich and transmembrane domain containing 1 gene DOID:630 genetic disease ISO RGD:1601910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743016 CPSF7 cleavage and polyadenylation specific factor 7 gene DOID:0050777 Joubert syndrome ISO RGD:1602680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11743016 CPSF7 cleavage and polyadenylation specific factor 7 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11743016 CPSF7 cleavage and polyadenylation specific factor 7 gene DOID:10283 prostate cancer ISO RGD:1602680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11743016 CPSF7 cleavage and polyadenylation specific factor 7 gene DOID:1059 intellectual disability ISO RGD:1602680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11743016 CPSF7 cleavage and polyadenylation specific factor 7 gene DOID:630 genetic disease ISO RGD:1602680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743041 CELA1 chymotrypsin like elastase 1 gene DOID:630 genetic disease ISO RGD:736392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743041 CELA1 chymotrypsin like elastase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 11743041 CELA1 chymotrypsin like elastase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11743052 DUSP5 dual specificity phosphatase 5 gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:1345576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 11743052 DUSP5 dual specificity phosphatase 5 gene DOID:10763 hypertension ISO RGD:1345576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25397684 11743052 DUSP5 dual specificity phosphatase 5 gene DOID:1936 atherosclerosis ameliorates ISO RGD:1622924 D RGD:9068941 20230330 RGD ApoE knockout mice PMID:30529164|REF_RGD_ID:243048424 11743052 DUSP5 dual specificity phosphatase 5 gene DOID:630 genetic disease ISO RGD:1345576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743052 DUSP5 dual specificity phosphatase 5 gene DOID:9000998 Brain Injuries ISO RGD:620854 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:12503083|REF_RGD_ID:2317873 11743052 DUSP5 dual specificity phosphatase 5 gene DOID:9002231 Fetal Growth Retardation ISO RGD:620854 D RGD:9068941 20200609 RGD PMID:16940436|REF_RGD_ID:2317872 11743052 DUSP5 dual specificity phosphatase 5 gene DOID:9003139 Cardiac Fibrosis ISO RGD:620854 D RGD:9068941 20230225 RGD mRNA,protein:decreased expression:cardiac muscle tissue (rat) PMID:27318893|REF_RGD_ID:156430318 11743060 NAT8L N-acetyltransferase 8 like gene DOID:10907 microcephaly ISO RGD:1602409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11743060 NAT8L N-acetyltransferase 8 like gene DOID:1856 cherubism ISO RGD:1602409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11743060 NAT8L N-acetyltransferase 8 like gene DOID:630 genetic disease ISO RGD:1602409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743060 NAT8L N-acetyltransferase 8 like gene DOID:9004612 N-Acetylaspartate Deficiency ISO RGD:1602409 D RGD:7240710 20180130 OMIM 11743060 NAT8L N-acetyltransferase 8 like gene DOID:9004612 N-Acetylaspartate Deficiency ISO RGD:1602409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: N-acetylaspartate deficiency PMID:19807691 11743067 C1QTNF2 C1q and TNF related 2 gene DOID:630 genetic disease ISO RGD:1348725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743082 HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 gene DOID:1826 epilepsy ISO RGD:1314539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:26424145|PMID:26437029|PMID:28492532|PMID:32581362 11743082 HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1314539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11743082 HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 gene DOID:769 neuroblastoma ISO RGD:1314539 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941191 11743082 HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 gene DOID:9005075 Spastic Paraplegia and Psychomotor Retardation with or without Seizures ISO RGD:1314539 D RGD:7240710 20190315 OMIM 11743082 HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 gene DOID:9005075 Spastic Paraplegia and Psychomotor Retardation with or without Seizures ISO RGD:1314539 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spastic paraplegia and psychomotor retardation with or without seizures PMID:25741868|PMID:26424145|PMID:26437029|PMID:28492532|PMID:32581362 11743082 HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1314539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:26424145|PMID:26437029|PMID:28492532|PMID:32581362 11743082 HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1314539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:26424145|PMID:26437029|PMID:28492532|PMID:32581362 11743113 TRIM40 tripartite motif containing 40 gene DOID:11372 megacolon ISO RGD:1346356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11743113 TRIM40 tripartite motif containing 40 gene DOID:2772 irritant dermatitis ISO RGD:1346356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27258892 11743113 TRIM40 tripartite motif containing 40 gene DOID:630 genetic disease ISO RGD:1346356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743131 NEUROD1 neuronal differentiation 1 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:731467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:25741868|PMID:28492532 11743131 NEUROD1 neuronal differentiation 1 gene DOID:0110746 type 1 diabetes mellitus 7 ISO RGD:735545 D RGD:9068941 20220825 MouseDO OMIM:600321 11743131 NEUROD1 neuronal differentiation 1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:731467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10545951|PMID:25741868 11743131 NEUROD1 neuronal differentiation 1 gene DOID:0111104 maturity-onset diabetes of the young type 6 ISO RGD:731467 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 6 PMID:10545951|PMID:12639765|PMID:16321269|PMID:18414213|PMID:25041077|PMID:25741868|PMID:27420379|PMID:28095440|PMID:28492532|PMID:28664602|PMID:30191644|PMID:30259503|PMID:34556497 11743131 NEUROD1 neuronal differentiation 1 gene DOID:0111104 maturity-onset diabetes of the young type 6 susceptibility ISO RGD:731467 D RGD:7240710 20230510 OMIM 11743131 NEUROD1 neuronal differentiation 1 gene DOID:10584 retinitis pigmentosa ISO RGD:731467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28041643 11743131 NEUROD1 neuronal differentiation 1 gene DOID:10603 glucose intolerance susceptibility ISO RGD:731467 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A45T (human) PMID:15277395|REF_RGD_ID:1601481 11743131 NEUROD1 neuronal differentiation 1 gene DOID:4195 hyperglycemia ISO RGD:731467 D RGD:9068941 20200609 RGD DNA:mutations:promoter, exon:-1972G>A, p.A322N (human) PMID:18811724|REF_RGD_ID:2313477 11743131 NEUROD1 neuronal differentiation 1 gene DOID:630 genetic disease ISO RGD:731467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11743131 NEUROD1 neuronal differentiation 1 gene DOID:863 nervous system disease ISO RGD:731467 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23203475 11743131 NEUROD1 neuronal differentiation 1 gene DOID:9002188 Hypoinsulinemia ISO RGD:731467 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypoinsulinemia PMID:12639765|PMID:18414213|PMID:25741868|PMID:27420379|PMID:28492532 11743131 NEUROD1 neuronal differentiation 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731467 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 11743131 NEUROD1 neuronal differentiation 1 gene DOID:9351 diabetes mellitus ISO RGD:731467 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:12639765|PMID:18414213|PMID:25741868|PMID:27420379|PMID:28492532|PMID:30259503 11743131 NEUROD1 neuronal differentiation 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10545951|PMID:25741868 11743131 NEUROD1 neuronal differentiation 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:731467 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A45T (human) PMID:15592940|REF_RGD_ID:2313486 11743131 NEUROD1 neuronal differentiation 1 gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:731467 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A45T (human) PMID:16773428|REF_RGD_ID:2313482 11743131 NEUROD1 neuronal differentiation 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:731467 D RGD:7240710 20230510 OMIM 11743131 NEUROD1 neuronal differentiation 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:731467 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A45T (human) PMID:16357810|REF_RGD_ID:2313483 11743131 NEUROD1 neuronal differentiation 1 gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:731467 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A45T (human) PMID:15047635|REF_RGD_ID:2313487 11743131 NEUROD1 neuronal differentiation 1 gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:731467 D RGD:9068941 20200609 RGD DNA:polymorphism:exon PMID:16909454|REF_RGD_ID:2313481 11743131 NEUROD1 neuronal differentiation 1 gene DOID:9970 obesity ISO RGD:731467 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:15979049|REF_RGD_ID:1625044 11743137 CASZ1 castor zinc finger 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606535 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11743137 CASZ1 castor zinc finger 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606535 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11743137 CASZ1 castor zinc finger 1 gene DOID:0060224 atrial fibrillation ISO RGD:1606535 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11743137 CASZ1 castor zinc finger 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606535 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11743137 CASZ1 castor zinc finger 1 gene DOID:0111936 immunodeficiency 14 ISO RGD:1606535 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 11743137 CASZ1 castor zinc finger 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1606535 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 11743137 CASZ1 castor zinc finger 1 gene DOID:630 genetic disease ISO RGD:1606535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11743137 CASZ1 castor zinc finger 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606535 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 11743137 CASZ1 castor zinc finger 1 gene DOID:9006158 Peroxisome Biogenesis Disorder, Complementation Group K ISO RGD:1606535 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K PMID:28492532 11743137 CASZ1 castor zinc finger 1 gene DOID:9007096 Stroke ISO RGD:1606535 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 11743137 CASZ1 castor zinc finger 1 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1606535 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 11743158 SP7 Sp7 transcription factor gene DOID:0110348 osteogenesis imperfecta type 12 ISO RGD:736995 D RGD:7240710 20180130 OMIM 11743158 SP7 Sp7 transcription factor gene DOID:0110348 osteogenesis imperfecta type 12 ISO RGD:736995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 12 PMID:20579626|PMID:25741868|PMID:28492532|PMID:29382611 11743158 SP7 Sp7 transcription factor gene DOID:12347 osteogenesis imperfecta ISO RGD:736995 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:28492532 11743158 SP7 Sp7 transcription factor gene DOID:1712 aortic valve stenosis severity ISO RGD:736995 D RGD:9068941 20230420 RGD PMID:23578508|REF_RGD_ID:267010069 11743158 SP7 Sp7 transcription factor gene DOID:630 genetic disease ISO RGD:736995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11743168 METAP2 methionyl aminopeptidase 2 gene DOID:630 genetic disease ISO RGD:732103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743189 LGALS3 galectin 3 gene DOID:0080600 COVID-19 ISO RGD:736304 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11743189 LGALS3 galectin 3 gene DOID:0080600 COVID-19 severity ISO RGD:736304 D RGD:9068941 20220217 RGD PMID:35115644|REF_RGD_ID:151356744 11743189 LGALS3 galectin 3 gene DOID:10763 hypertension treatment ISO RGD:69356 D RGD:9068941 20200609 RGD PMID:23117656|REF_RGD_ID:9685203 11743189 LGALS3 galectin 3 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:69356 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:20557304|REF_RGD_ID:9685226 11743189 LGALS3 galectin 3 gene DOID:10952 nephritis ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11044214 11743189 LGALS3 galectin 3 gene DOID:1712 aortic valve stenosis ISO RGD:736304 D RGD:9068941 20200609 RGD PMID:15520318|REF_RGD_ID:9685214 11743189 LGALS3 galectin 3 gene DOID:178 vascular disease ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27870162 11743189 LGALS3 galectin 3 gene DOID:1909 melanoma ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23994248 11743189 LGALS3 galectin 3 gene DOID:219 colon cancer treatment ISO RGD:69356 D RGD:9068941 20211210 RGD PMID:28032729|REF_RGD_ID:150530464 11743189 LGALS3 galectin 3 gene DOID:2316 brain ischemia ISO RGD:69356 D RGD:9068941 20200609 RGD PMID:10931529|REF_RGD_ID:9685227 11743189 LGALS3 galectin 3 gene DOID:2841 asthma treatment ISO RGD:736304 D RGD:9068941 20200609 RGD PMID:16424226|REF_RGD_ID:9685213 11743189 LGALS3 galectin 3 gene DOID:3021 acute kidney failure ISO RGD:69356 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:10980121|REF_RGD_ID:9685228 11743189 LGALS3 galectin 3 gene DOID:3070 high grade glioma disease_progression ISO RGD:69356 D RGD:9068941 20200609 RGD PMID:23179497|REF_RGD_ID:9685225 11743189 LGALS3 galectin 3 gene DOID:5082 liver cirrhosis ISO RGD:736304 D RGD:9068941 20200609 RGD PMID:16549783|REF_RGD_ID:9685224 11743189 LGALS3 galectin 3 gene DOID:5844 myocardial infarction ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29769800 11743189 LGALS3 galectin 3 gene DOID:6000 congestive heart failure ISO RGD:69356 D RGD:9068941 20200609 RGD PMID:15520318|REF_RGD_ID:9685214 11743189 LGALS3 galectin 3 gene DOID:630 genetic disease ISO RGD:736304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743189 LGALS3 galectin 3 gene DOID:8398 osteoarthritis ISO RGD:736304 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34894372 11743189 LGALS3 galectin 3 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:69356 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:17706429|REF_RGD_ID:9685206 11743189 LGALS3 galectin 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17634542 11743189 LGALS3 galectin 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21750908 11743189 LGALS3 galectin 3 gene DOID:9000740 ST Elevation Myocardial Infarction ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29769800 11743189 LGALS3 galectin 3 gene DOID:9000784 Fibrosis ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27870162 11743189 LGALS3 galectin 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25882088 11743189 LGALS3 galectin 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69356 D RGD:9068941 20200609 RGD PMID:12646584|REF_RGD_ID:9685223 11743189 LGALS3 galectin 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16549783|PMID:25380136 11743189 LGALS3 galectin 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736305 D RGD:9068941 20200609 RGD PMID:16549783|REF_RGD_ID:9685224 11743189 LGALS3 galectin 3 gene DOID:9002457 Experimental Arthritis ISO RGD:69356 D RGD:9068941 20200609 RGD PMID:16507131|REF_RGD_ID:1625684 11743189 LGALS3 galectin 3 gene DOID:9002514 Neointima ISO RGD:69356 D RGD:9068941 20200609 RGD mRNA:increased expression:thoracic aorta PMID:9688561|REF_RGD_ID:9685205 11743189 LGALS3 galectin 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11743189 LGALS3 galectin 3 gene DOID:9004017 Chronic Hepatitis C ISO RGD:736304 D RGD:9068941 20200626 RGD mRNA:increased expression:CD19+Bcell: PMID:20189883|REF_RGD_ID:32716380 11743189 LGALS3 galectin 3 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:69356 D RGD:9068941 20200609 RGD PMID:21249158|REF_RGD_ID:9685210 11743189 LGALS3 galectin 3 gene DOID:9005749 Necrosis ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22461450 11743189 LGALS3 galectin 3 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:69356 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:10980121|REF_RGD_ID:9685228 11743189 LGALS3 galectin 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22461450 11743189 LGALS3 galectin 3 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16322222 11743189 LGALS3 galectin 3 gene DOID:9452 fatty liver disease ISO RGD:736305 D RGD:9068941 20220825 MouseDO OMIM:228100 11743189 LGALS3 galectin 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:69356 D RGD:9068941 20200609 RGD PMID:16600178|REF_RGD_ID:9685204 11743209 KLHL25 kelch like family member 25 gene DOID:2717 Bloom syndrome ISO RGD:1605054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11743209 KLHL25 kelch like family member 25 gene DOID:630 genetic disease ISO RGD:1605054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743209 KLHL25 kelch like family member 25 gene DOID:9256 colorectal cancer ISO RGD:1605054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11743218 SLC7A9 solute carrier family 7 member 9 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:734403 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11743218 SLC7A9 solute carrier family 7 member 9 gene DOID:557 kidney disease ISO RGD:734403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21572414 11743218 SLC7A9 solute carrier family 7 member 9 gene DOID:630 genetic disease ISO RGD:734403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743218 SLC7A9 solute carrier family 7 member 9 gene DOID:9266 cystinuria ISO RGD:734403 D RGD:7240710 20180130 OMIM 11743218 SLC7A9 solute carrier family 7 member 9 gene DOID:9266 cystinuria ISO RGD:734403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria PMID:10471498|PMID:11013083|PMID:11157794|PMID:11260385|PMID:11748844|PMID:12036192|PMID:12234283|PMID:12234930|PMID:12239244|PMID:12371955|PMID:12820697|PMID:15635077|PMID:15670723|PMID:16138908|PMID:16199547|PMID:16225397|PMID:16374432|PMID:16609684|PMID:16834950|PMID:16838140|PMID:17539912|PMID:17576681|PMID:18414213|PMID:18947684|PMID:19782624|PMID:21255007|PMID:21677404|PMID:21681106|PMID:22480232|PMID:23532419|PMID:24033266|PMID:25109415|PMID:25296721|PMID:25599739|PMID:25741868|PMID:25964309|PMID:26123750|PMID:28492532|PMID:28646536|PMID:28717662|PMID:28812535|PMID:32133030|PMID:33349102|PMID:33377691|PMID:33532864|PMID:6031738|PMID:9536098 11743286 STON1 stonin 1 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:1602494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 11743286 STON1 stonin 1 gene DOID:2661 myoepithelioma ISO RGD:1602494 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11743286 STON1 stonin 1 gene DOID:630 genetic disease ISO RGD:1602494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743325 NOXO1 NADPH oxidase organizer 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1317206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 11743325 NOXO1 NADPH oxidase organizer 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1317206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11743325 NOXO1 NADPH oxidase organizer 1 gene DOID:1826 epilepsy ISO RGD:1317206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11743325 NOXO1 NADPH oxidase organizer 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1317206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11743325 NOXO1 NADPH oxidase organizer 1 gene DOID:630 genetic disease ISO RGD:1317206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743347 ZNF516 zinc finger protein 516 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1343458 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11743347 ZNF516 zinc finger protein 516 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1343458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 11743347 ZNF516 zinc finger protein 516 gene DOID:1059 intellectual disability ISO RGD:1343458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11743347 ZNF516 zinc finger protein 516 gene DOID:630 genetic disease ISO RGD:1343458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743347 ZNF516 zinc finger protein 516 gene DOID:6420 pulmonary valve stenosis ISO RGD:1343458 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 11743347 ZNF516 zinc finger protein 516 gene DOID:8445 intestinal volvulus ISO RGD:1343458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11743347 ZNF516 zinc finger protein 516 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1343458 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 11743347 ZNF516 zinc finger protein 516 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11743347 ZNF516 zinc finger protein 516 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1343458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11743366 ANAPC7 anaphase promoting complex subunit 7 gene DOID:0050888 syndromic intellectual disability ISO RGD:1323638 D RGD:9068941 20220825 MouseDO 11743366 ANAPC7 anaphase promoting complex subunit 7 gene DOID:630 genetic disease ISO RGD:1344930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743366 ANAPC7 anaphase promoting complex subunit 7 gene DOID:9002328 FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME ISO RGD:1344930 D RGD:7240710 20220316 OMIM 11743366 ANAPC7 anaphase promoting complex subunit 7 gene DOID:9002328 FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME ISO RGD:1344930 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ferguson-Bonni neurodevelopmental syndrome PMID:25741868|PMID:34942119 11743393 TXNRD1 thioredoxin reductase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732119 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11743393 TXNRD1 thioredoxin reductase 1 gene DOID:1826 epilepsy ISO RGD:732119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19499324 11743393 TXNRD1 thioredoxin reductase 1 gene DOID:2773 contact dermatitis ISO RGD:732119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11743393 TXNRD1 thioredoxin reductase 1 gene DOID:332 amyotrophic lateral sclerosis susceptibility ISO RGD:732119 D RGD:9068941 20200609 RGD DNA:SNPs:intron:rs6539137, rs4630362 (human) PMID:18996185|REF_RGD_ID:5685032 11743393 TXNRD1 thioredoxin reductase 1 gene DOID:5844 myocardial infarction ISO RGD:61959 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle (rat) PMID:18515646|REF_RGD_ID:5134341 11743393 TXNRD1 thioredoxin reductase 1 gene DOID:6000 congestive heart failure ISO RGD:732119 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 11743393 TXNRD1 thioredoxin reductase 1 gene DOID:630 genetic disease ISO RGD:732119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743393 TXNRD1 thioredoxin reductase 1 gene DOID:657 adenoma ISO RGD:732119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18483336 11743393 TXNRD1 thioredoxin reductase 1 gene DOID:8398 osteoarthritis ISO RGD:732119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11743393 TXNRD1 thioredoxin reductase 1 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:61959 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:neuron PMID:19833109|REF_RGD_ID:5133729 11743393 TXNRD1 thioredoxin reductase 1 gene DOID:9003566 Mesothelioma ISO RGD:732119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17316382 11743393 TXNRD1 thioredoxin reductase 1 gene DOID:9003690 Carcinoma, Lewis Lung ISO RGD:732119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16565519 11743393 TXNRD1 thioredoxin reductase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:61959 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex PMID:19128823|REF_RGD_ID:5685030 11743393 TXNRD1 thioredoxin reductase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:61959 D RGD:9068941 20200609 RGD mRNA:decreased expression:spinal cord PMID:19409971|REF_RGD_ID:5685028 11743393 TXNRD1 thioredoxin reductase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61959 D RGD:9068941 20200609 RGD mRNA:altered expression:myocardium (rat) PMID:20571744|REF_RGD_ID:5133714 11743393 TXNRD1 thioredoxin reductase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:732119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11743393 TXNRD1 thioredoxin reductase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18483336 11743429 DNAJC25 DnaJ heat shock protein family (Hsp40) member C25 gene DOID:630 genetic disease ISO RGD:1603327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743437 KLRG1 killer cell lectin like receptor G1 gene DOID:0080600 COVID-19 ISO RGD:737284 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11743437 KLRG1 killer cell lectin like receptor G1 gene DOID:10652 Alzheimer's disease ISO RGD:737284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALPHA-2-MACROGLOBULIN POLYMORPHISM PMID:1370808|PMID:15023809|PMID:1717945|PMID:24033266|PMID:9697696|PMID:9811940 11743437 KLRG1 killer cell lectin like receptor G1 gene DOID:11372 megacolon ISO RGD:737284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11743437 KLRG1 killer cell lectin like receptor G1 gene DOID:630 genetic disease ISO RGD:737284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743437 KLRG1 killer cell lectin like receptor G1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:737284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11743450 KMT2B lysine methyltransferase 2B gene DOID:0050861 colorectal adenocarcinoma ISO RGD:1605411 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:22713656|REF_RGD_ID:9588601 11743450 KMT2B lysine methyltransferase 2B gene DOID:0060041 autism spectrum disorder ISO RGD:1605411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11743450 KMT2B lysine methyltransferase 2B gene DOID:0110222 Brugada syndrome 5 ISO RGD:1605411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11743450 KMT2B lysine methyltransferase 2B gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1605411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11743450 KMT2B lysine methyltransferase 2B gene DOID:0111152 multicentric Castleman disease ISO RGD:1605411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TAFRO syndrome 11743450 KMT2B lysine methyltransferase 2B gene DOID:10283 prostate cancer ISO RGD:1605411 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland (human) PMID:24200674|REF_RGD_ID:9587761 11743450 KMT2B lysine methyltransferase 2B gene DOID:1059 intellectual disability ISO RGD:1605411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11743450 KMT2B lysine methyltransferase 2B gene DOID:12849 autistic disorder ISO RGD:1605411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 11743450 KMT2B lysine methyltransferase 2B gene DOID:13580 cholestasis ISO RGD:1623920 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (mouse) PMID:21330447|REF_RGD_ID:9588602 11743450 KMT2B lysine methyltransferase 2B gene DOID:1612 breast cancer severity ISO RGD:1605411 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:24491801|REF_RGD_ID:9588564 11743450 KMT2B lysine methyltransferase 2B gene DOID:543 dystonia ISO RGD:1605411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362|PMID:33150406 11743450 KMT2B lysine methyltransferase 2B gene DOID:630 genetic disease ISO RGD:1605411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25405613|PMID:25741868|PMID:27839873|PMID:27992417|PMID:28492532|PMID:31216378 11743450 KMT2B lysine methyltransferase 2B gene DOID:684 hepatocellular carcinoma ISO RGD:1605411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22634754 11743450 KMT2B lysine methyltransferase 2B gene DOID:684 hepatocellular carcinoma ISO RGD:1605411 D RGD:9068941 20200609 RGD DNA:insertions, translocations:intron:IVS3, multiple (human) PMID:18320596|REF_RGD_ID:9588597 11743450 KMT2B lysine methyltransferase 2B gene DOID:9000965 Neoplasm Metastasis ISO RGD:1605411 D RGD:9068941 20211119 RGD associated with lung adenocarcinoma PMID:33291558|REF_RGD_ID:150429741 11743450 KMT2B lysine methyltransferase 2B gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1605411 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:28492532|PMID:29255178 11743450 KMT2B lysine methyltransferase 2B gene DOID:9001722 Dysarthria ISO RGD:1605411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysarthria PMID:25741868|PMID:27992417|PMID:32581362 11743450 KMT2B lysine methyltransferase 2B gene DOID:9004049 Dystonia 28, Childhood-onset ISO RGD:1605411 D RGD:7240710 20190315 OMIM 11743450 KMT2B lysine methyltransferase 2B gene DOID:9004049 Dystonia 28, Childhood-onset ISO RGD:1605411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia 28, childhood-onset PMID:25741868|PMID:25741878|PMID:27839873|PMID:27992417|PMID:28492532|PMID:28520167|PMID:29697234|PMID:31216378|PMID:32581362|PMID:32860008|PMID:33098801|PMID:33619735 11743450 KMT2B lysine methyltransferase 2B gene DOID:9005196 Autosomal Dominant Intellectual Developmental Disorder 68 ISO RGD:1605411 D RGD:7240710 20220720 OMIM 11743450 KMT2B lysine methyltransferase 2B gene DOID:9005196 Autosomal Dominant Intellectual Developmental Disorder 68 ISO RGD:1605411 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 68 PMID:25741868 11743450 KMT2B lysine methyltransferase 2B gene DOID:9008086 Developmental Disabilities ISO RGD:1605411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741878 11743450 KMT2B lysine methyltransferase 2B gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1623920 D RGD:9068941 20200609 RGD PMID:25079327|REF_RGD_ID:9588599 11743491 STK38 serine/threonine kinase 38 gene DOID:0050553 JMP syndrome ISO RGD:1319806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11743491 STK38 serine/threonine kinase 38 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy 11743491 STK38 serine/threonine kinase 38 gene DOID:630 genetic disease ISO RGD:1319806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743514 KIF18A kinesin family member 18A gene DOID:10534 stomach cancer disease_progression ISO RGD:1352766 D RGD:9068941 20200609 RGD PMID:27215532|REF_RGD_ID:11554202 11743514 KIF18A kinesin family member 18A gene DOID:1059 intellectual disability ISO RGD:1352766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11743514 KIF18A kinesin family member 18A gene DOID:630 genetic disease ISO RGD:1352766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743514 KIF18A kinesin family member 18A gene DOID:684 hepatocellular carcinoma ISO RGD:1352766 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11743514 KIF18A kinesin family member 18A gene DOID:9256 colorectal cancer disease_progression ISO RGD:1352766 D RGD:9068941 20200609 RGD PMID:21213216|REF_RGD_ID:11554203 11743540 LOC100982375 olfactory receptor 4C16 gene DOID:1059 intellectual disability ISO RGD:1349325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11743540 LOC100982375 olfactory receptor 4C16 gene DOID:630 genetic disease ISO RGD:1349325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743541 SGCG sarcoglycan gamma gene DOID:0050946 Charlevoix-Saguenay spastic ataxia ISO RGD:1347979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 11743541 SGCG sarcoglycan gamma gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1347979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:16199547|PMID:18285821|PMID:18414213|PMID:19770540|PMID:21896784|PMID:22095924|PMID:24033266|PMID:25605665|PMID:25741868|PMID:26467025|PMID:27708273|PMID:28492532|PMID:31517061|PMID:32875335|PMID:9673983 11743541 SGCG sarcoglycan gamma gene DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C ISO RGD:1347979 D RGD:7240710 20180130 OMIM 11743541 SGCG sarcoglycan gamma gene DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C ISO RGD:1347979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2C PMID:10447257|PMID:10714584|PMID:10874299|PMID:10942431|PMID:12040521|PMID:12566530|PMID:12746421|PMID:1303286|PMID:14981741|PMID:15322984|PMID:15479193|PMID:16199547|PMID:16832103|PMID:17576681|PMID:18285821|PMID:18398442|PMID:18414213|PMID:18996010|PMID:19031088|PMID:19167890|PMID:19208398|PMID:19763152|PMID:19770540|PMID:20307669|PMID:20345928|PMID:20623375|PMID:22095924|PMID:22240777|PMID:22406018|PMID:23929688|PMID:24033266|PMID:24180463|PMID:24534832|PMID:24552312|PMID:25605665|PMID:25640679|PMID:25741868|PMID:25802879|PMID:26467025|PMID:27708273|PMID:27759885|PMID:28492532|PMID:28687063|PMID:29970176|PMID:30107846|PMID:30564623|PMID:30838351|PMID:31268554|PMID:31517061|PMID:31785789|PMID:32214227|PMID:32875335|PMID:7481775|PMID:8923014|PMID:8968757|PMID:9536098|PMID:9658457|PMID:9673983|PMID:9781048 11743541 SGCG sarcoglycan gamma gene DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D ISO RGD:1347979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sarcoglycanopathy PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 11743541 SGCG sarcoglycan gamma gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1552804 D RGD:9068941 20220825 MouseDO 11743541 SGCG sarcoglycan gamma gene DOID:12930 dilated cardiomyopathy ISO RGD:1347979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 11743541 SGCG sarcoglycan gamma gene DOID:1826 epilepsy ISO RGD:1347979 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11743541 SGCG sarcoglycan gamma gene DOID:5419 schizophrenia ISO RGD:1347979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11743541 SGCG sarcoglycan gamma gene DOID:607 paraplegia ISO RGD:1347979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:18285821|PMID:18398442|PMID:19031088|PMID:19208398|PMID:19892370|PMID:21745802|PMID:24180463|PMID:28492532 11743541 SGCG sarcoglycan gamma gene DOID:630 genetic disease ISO RGD:1347979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11743541 SGCG sarcoglycan gamma gene DOID:8398 osteoarthritis ISO RGD:1347979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 11743541 SGCG sarcoglycan gamma gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1347979 D RGD:9068941 20200609 RGD DNA:SNP: : rs9552911(human) PMID:28123479|REF_RGD_ID:13605620 11743566 SGMS1 sphingomyelin synthase 1 gene DOID:11372 megacolon ISO RGD:1352309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11743566 SGMS1 sphingomyelin synthase 1 gene DOID:630 genetic disease ISO RGD:1352309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743566 Sgms1 sphingomyelin synthase 1 gene DOID:11396 pulmonary edema ISO RGD:727912 D RGD:9068941 20200609 RGD PMID:12353928|REF_RGD_ID:1302423 11743593 HNRNPA3 heterogeneous nuclear ribonucleoprotein A3 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1343696 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11743593 HNRNPA3 heterogeneous nuclear ribonucleoprotein A3 gene DOID:10325 silicosis ISO RGD:727807 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19534998|REF_RGD_ID:10059658 11743593 HNRNPA3 heterogeneous nuclear ribonucleoprotein A3 gene DOID:5419 schizophrenia ISO RGD:1343696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16223876 11743616 RSKR ribosomal protein S6 kinase related gene DOID:630 genetic disease ISO RGD:1603276 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743640 CNOT6L CCR4-NOT transcription complex subunit 6 like gene DOID:630 genetic disease ISO RGD:1319296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743640 CNOT6L CCR4-NOT transcription complex subunit 6 like gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1319296 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11743656 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1347847 D RGD:9068941 20200609 RGD PMID:19065664|REF_RGD_ID:8549498 11743656 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11743656 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:0081312 T-cell non-Hodgkin lymphoma treatment ISO RGD:732072 D RGD:9068941 20200609 RGD PMID:19951958|REF_RGD_ID:8549563 11743656 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:11476 osteoporosis ISO RGD:1347847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 PMID:24088041|PMID:26633545 11743656 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:12849 autistic disorder ISO RGD:1347847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11743656 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1347847 D RGD:9068941 20200609 RGD protein:increased expression:myocardium PMID:18362439|REF_RGD_ID:2298568 11743656 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:1612 breast cancer treatment ISO RGD:1347847 D RGD:9068941 20200609 RGD PMID:11748276|PMID:17438063|REF_RGD_ID:8549514|REF_RGD_ID:8549557 11743656 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:1793 pancreatic cancer treatment ISO RGD:1347847 D RGD:9068941 20200609 RGD PMID:11748276|REF_RGD_ID:8549514 11743656 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:2799 bronchiolitis obliterans ISO RGD:732072 D RGD:9068941 20200609 RGD PMID:17182591|REF_RGD_ID:4146242 11743656 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:2841 asthma ISO RGD:1347847 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21462799|REF_RGD_ID:8549521 11743656 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:2841 asthma ISO RGD:732072 D RGD:9068941 20200609 RGD PMID:17885690|REF_RGD_ID:4892649 11743656 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:2841 asthma ISO RGD:732072 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchus PMID:20383033|REF_RGD_ID:4892646 11743656 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:3310 atopic dermatitis ISO RGD:1347847 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21462799|REF_RGD_ID:8549521 11743656 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:3310 atopic dermatitis ISO RGD:732072 D RGD:9068941 20200609 RGD PMID:20971924|REF_RGD_ID:8549556 11743656 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:4481 allergic rhinitis ISO RGD:1347847 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21462799|REF_RGD_ID:8549521 11743656 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:4483 rhinitis ISO RGD:732072 D RGD:9068941 20200609 RGD PMID:17088137|REF_RGD_ID:4159171 11743656 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:5419 schizophrenia ISO RGD:1347847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11743656 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:552 pneumonia ISO RGD:1347847 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, fibroblast PMID:15161635|REF_RGD_ID:4890021 11743656 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1347847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743656 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:6432 pulmonary hypertension ISO RGD:1347847 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:20522789|REF_RGD_ID:4892612 11743656 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:9000998 Brain Injuries ISO RGD:1347847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 11743656 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:9452 fatty liver disease ISO RGD:620838 D RGD:9068941 20200609 RGD PMID:18802068|REF_RGD_ID:4145478 11743672 BEND6 BEN domain containing 6 gene DOID:630 genetic disease ISO RGD:1321272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743688 LOC100989488 olfactory receptor 56A4 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1347825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11743688 LOC100989488 olfactory receptor 56A4 gene DOID:630 genetic disease ISO RGD:1347825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743693 SYCN syncollin gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1604473 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11743693 SYCN syncollin gene DOID:630 genetic disease ISO RGD:1604473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743693 SYCN syncollin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604473 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11743697 DNAH9 dynein axonemal heavy chain 9 gene DOID:0111853 primary ciliary dyskinesia 40 ISO RGD:1313302 D RGD:7240710 20190315 OMIM 11743697 DNAH9 dynein axonemal heavy chain 9 gene DOID:0111853 primary ciliary dyskinesia 40 ISO RGD:1313302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 40 PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30471717|PMID:30471718|PMID:9536098 11743697 DNAH9 dynein axonemal heavy chain 9 gene DOID:10283 prostate cancer ISO RGD:1313302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11743697 DNAH9 dynein axonemal heavy chain 9 gene DOID:10908 hydrocephalus ISO RGD:1313302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrocephalus PMID:25741868|PMID:28492532|PMID:30471718 11743697 DNAH9 dynein axonemal heavy chain 9 gene DOID:5419 schizophrenia ISO RGD:1313302 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11743697 DNAH9 dynein axonemal heavy chain 9 gene DOID:630 genetic disease ISO RGD:1313302 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11743697 DNAH9 dynein axonemal heavy chain 9 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1313302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:25741868|PMID:28492532|PMID:30471718 11743697 DNAH9 dynein axonemal heavy chain 9 gene DOID:9008386 Hydrops Fetalis ISO RGD:1313302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868|PMID:28492532|PMID:30471718|PMID:33027564 11743697 DNAH9 dynein axonemal heavy chain 9 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313302 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532|PMID:30471718 11743783 GJB5 gap junction protein beta 5 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:732046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11743783 GJB5 gap junction protein beta 5 gene DOID:630 genetic disease ISO RGD:732046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743783 GJB5 gap junction protein beta 5 gene DOID:9004464 Skin Neoplasms ISO RGD:732046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7586191 11743793 UXT ubiquitously expressed prefoldin like chaperone gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11743793 UXT ubiquitously expressed prefoldin like chaperone gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1347196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 11743793 UXT ubiquitously expressed prefoldin like chaperone gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1347196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11743793 UXT ubiquitously expressed prefoldin like chaperone gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1347196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11743793 UXT ubiquitously expressed prefoldin like chaperone gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1347196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11743793 UXT ubiquitously expressed prefoldin like chaperone gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1347196 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 11743793 UXT ubiquitously expressed prefoldin like chaperone gene DOID:12849 autistic disorder ISO RGD:1347196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11743793 UXT ubiquitously expressed prefoldin like chaperone gene DOID:630 genetic disease ISO RGD:1347196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743793 UXT ubiquitously expressed prefoldin like chaperone gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347196 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19318562 11743812 PLEKHO2 pleckstrin homology domain containing O2 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1601963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11743812 PLEKHO2 pleckstrin homology domain containing O2 gene DOID:2717 Bloom syndrome ISO RGD:1601963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11743812 PLEKHO2 pleckstrin homology domain containing O2 gene DOID:630 genetic disease ISO RGD:1601963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743812 PLEKHO2 pleckstrin homology domain containing O2 gene DOID:9256 colorectal cancer ISO RGD:1601963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11743822 RBM18 RNA binding motif protein 18 gene DOID:630 genetic disease ISO RGD:1316593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743844 TICAM2 TIR domain containing adaptor molecule 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1317929 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11743844 TICAM2 TIR domain containing adaptor molecule 2 gene DOID:0080599 Coronavirus infectious disease ISO RGD:1550939 D RGD:9068941 20220825 MouseDO 11743844 TICAM2 TIR domain containing adaptor molecule 2 gene DOID:12849 autistic disorder ISO RGD:1317929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11743844 TICAM2 TIR domain containing adaptor molecule 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1317929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26861016 11743844 TICAM2 TIR domain containing adaptor molecule 2 gene DOID:9000998 Brain Injuries ISO RGD:1317929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 11743844 TICAM2 TIR domain containing adaptor molecule 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11743844 TICAM2 TIR domain containing adaptor molecule 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317929 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11743860 FAM24B family with sequence similarity 24 member B gene DOID:2340 craniosynostosis ISO RGD:1352359 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 11743860 FAM24B family with sequence similarity 24 member B gene DOID:630 genetic disease ISO RGD:1352359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743927 ATP8B4 ATPase phospholipid transporting 8B4 (putative) gene DOID:2717 Bloom syndrome ISO RGD:1315485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11743927 ATP8B4 ATPase phospholipid transporting 8B4 (putative) gene DOID:630 genetic disease ISO RGD:1315485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743927 ATP8B4 ATPase phospholipid transporting 8B4 (putative) gene DOID:9256 colorectal cancer ISO RGD:1315485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11743971 AMPD2 adenosine monophosphate deaminase 2 gene DOID:0050952 spastic ataxia ISO RGD:1346106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 11743971 AMPD2 adenosine monophosphate deaminase 2 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1346106 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia 11743971 AMPD2 adenosine monophosphate deaminase 2 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1346106 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia 11743971 AMPD2 adenosine monophosphate deaminase 2 gene DOID:0060278 pontocerebellar hypoplasia type 9 ISO RGD:1346106 D RGD:7240710 20180130 OMIM 11743971 AMPD2 adenosine monophosphate deaminase 2 gene DOID:0060278 pontocerebellar hypoplasia type 9 ISO RGD:1346106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 9 PMID:23911318|PMID:25741868|PMID:27066553|PMID:28492532|PMID:28815207|PMID:29463858|PMID:31130284|PMID:32214227 11743971 AMPD2 adenosine monophosphate deaminase 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1346106 D RGD:7240710 20180130 OMIM 11743971 AMPD2 adenosine monophosphate deaminase 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1346106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:16199547|PMID:17576681|PMID:23911318|PMID:24482476|PMID:25558065|PMID:25741868|PMID:27159321|PMID:28492532|PMID:28832565|PMID:29463858|PMID:31130284|PMID:31833174|PMID:32552793|PMID:9536098 11743971 AMPD2 adenosine monophosphate deaminase 2 gene DOID:1059 intellectual disability ISO RGD:1346106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11743971 AMPD2 adenosine monophosphate deaminase 2 gene DOID:10907 microcephaly ISO RGD:1346106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11743971 AMPD2 adenosine monophosphate deaminase 2 gene DOID:12849 autistic disorder ISO RGD:1346106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11743971 AMPD2 adenosine monophosphate deaminase 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1346106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28492532|PMID:28832565 11743971 AMPD2 adenosine monophosphate deaminase 2 gene DOID:630 genetic disease ISO RGD:1346106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11743971 AMPD2 adenosine monophosphate deaminase 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1346106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11743971 AMPD2 adenosine monophosphate deaminase 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1346106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065|PMID:28492532|PMID:32552793 11743999 CBLN2 cerebellin 2 precursor gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1320203 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11743999 CBLN2 cerebellin 2 precursor gene DOID:630 genetic disease ISO RGD:1320203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11743999 CBLN2 cerebellin 2 precursor gene DOID:6420 pulmonary valve stenosis ISO RGD:1320203 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 11743999 CBLN2 cerebellin 2 precursor gene DOID:6432 pulmonary hypertension ISO RGD:1320203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23502781 11743999 CBLN2 cerebellin 2 precursor gene DOID:8445 intestinal volvulus ISO RGD:1320203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11743999 CBLN2 cerebellin 2 precursor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11743999 CBLN2 cerebellin 2 precursor gene DOID:9008419 Volvulus Of Midgut ISO RGD:1320203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11744006 KIF24 kinesin family member 24 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1317081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11744006 KIF24 kinesin family member 24 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1317081 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11744006 KIF24 kinesin family member 24 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1317081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 11744006 KIF24 kinesin family member 24 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1317081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11744006 KIF24 kinesin family member 24 gene DOID:574 peripheral nervous system disease ISO RGD:1317081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:26378787 11744006 KIF24 kinesin family member 24 gene DOID:630 genetic disease ISO RGD:1317081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744006 KIF24 kinesin family member 24 gene DOID:870 neuropathy ISO RGD:1317081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:26378787 11744006 KIF24 kinesin family member 24 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11744006 KIF24 kinesin family member 24 gene DOID:9870 galactosemia ISO RGD:1317081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11744023 FSCN2 fascin actin-bundling protein 2, retinal gene DOID:0110406 retinitis pigmentosa 30 ISO RGD:1319003 D RGD:7240710 20180130 OMIM 11744023 FSCN2 fascin actin-bundling protein 2, retinal gene DOID:0110406 retinitis pigmentosa 30 ISO RGD:1319003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 30 PMID:11527955|PMID:14609921|PMID:15994872|PMID:16280978|PMID:16799052|PMID:17251446|PMID:17576681|PMID:18450588|PMID:25741868|PMID:28492532|PMID:9536098 11744023 FSCN2 fascin actin-bundling protein 2, retinal gene DOID:10584 retinitis pigmentosa ISO RGD:1319003 D RGD:9068941 20200609 RGD PMID:11527955|REF_RGD_ID:1598962 11744023 FSCN2 fascin actin-bundling protein 2, retinal gene DOID:14791 Leber congenital amaurosis ISO RGD:1319003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:11527955|PMID:14609921|PMID:15994872|PMID:16280978|PMID:16799052|PMID:17251446|PMID:18450588|PMID:28492532 11744023 FSCN2 fascin actin-bundling protein 2, retinal gene DOID:2742 auditory system disease ISO RGD:1319004 D RGD:9068941 20220825 MouseDO 11744023 FSCN2 fascin actin-bundling protein 2, retinal gene DOID:4448 macular degeneration ISO RGD:1319003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:11527955|PMID:14609921|PMID:15994872|PMID:16280978|PMID:16799052|PMID:17251446|PMID:18450588|PMID:28492532 11744023 FSCN2 fascin actin-bundling protein 2, retinal gene DOID:630 genetic disease ISO RGD:1319003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11744023 FSCN2 fascin actin-bundling protein 2, retinal gene DOID:8466 retinal degeneration ISO RGD:1319004 D RGD:9068941 20220825 MouseDO 11744035 USP31 ubiquitin specific peptidase 31 gene DOID:10003 sensorineural hearing loss ISO RGD:1317813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 11744035 USP31 ubiquitin specific peptidase 31 gene DOID:630 genetic disease ISO RGD:1317813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744056 PAQR9 progestin and adipoQ receptor family member 9 gene DOID:630 genetic disease ISO RGD:1323015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744056 PAQR9 progestin and adipoQ receptor family member 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323015 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11744063 SLC25A48 solute carrier family 25 member 48 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601716 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11744063 SLC25A48 solute carrier family 25 member 48 gene DOID:630 genetic disease ISO RGD:1601716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744063 SLC25A48 solute carrier family 25 member 48 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11744063 SLC25A48 solute carrier family 25 member 48 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601716 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11744086 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:0050454 periventricular nodular heterotopia ISO RGD:731354 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11744086 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:0050476 Barth syndrome ISO RGD:731354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11744086 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:0050800 creatine transporter deficiency ISO RGD:731354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 11744086 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11744086 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:0080574 congenital disorder of glycosylation Iy ISO RGD:731354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y 11744086 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:731354 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 11744086 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:0112003 immunodeficiency 33 ISO RGD:731354 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11744086 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:10588 adrenoleukodystrophy ISO RGD:731354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11744086 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:731354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11744086 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:12835 quadriplegia ISO RGD:731354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic tetraplegia PMID:25741868 11744086 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:12849 autistic disorder ISO RGD:731354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11744086 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:13628 favism ISO RGD:731354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11744086 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:2729 dyskeratosis congenita ISO RGD:731354 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11744086 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:607 paraplegia ISO RGD:731354 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11744086 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:630 genetic disease ISO RGD:731354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744086 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:9002720 Splenomegaly ISO RGD:731354 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11744103 KCNK15 potassium two pore domain channel subfamily K member 15 gene DOID:2234 focal epilepsy ISO RGD:1345243 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11744103 KCNK15 potassium two pore domain channel subfamily K member 15 gene DOID:630 genetic disease ISO RGD:1345243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744103 KCNK15 potassium two pore domain channel subfamily K member 15 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1345243 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11744109 B3GNT2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 gene DOID:12361 Graves' disease ISO RGD:1320774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 11744109 B3GNT2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 gene DOID:5419 schizophrenia ISO RGD:1320774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11744109 B3GNT2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 gene DOID:630 genetic disease ISO RGD:1320774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744109 B3GNT2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1320774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 11744115 CYP2F1 cytochrome P450 family 2 subfamily F member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1351527 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11744115 CYP2F1 cytochrome P450 family 2 subfamily F member 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1351527 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11744115 CYP2F1 cytochrome P450 family 2 subfamily F member 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1351527 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11744115 CYP2F1 cytochrome P450 family 2 subfamily F member 1 gene DOID:2340 craniosynostosis ISO RGD:1351527 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11744115 CYP2F1 cytochrome P450 family 2 subfamily F member 1 gene DOID:630 genetic disease ISO RGD:1351527 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744115 CYP2F1 cytochrome P450 family 2 subfamily F member 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:733763 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 11744115 CYP2F1 cytochrome P450 family 2 subfamily F member 1 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1351527 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11744115 CYP2F1 cytochrome P450 family 2 subfamily F member 1 gene DOID:9269 maple syrup urine disease ISO RGD:1351527 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11744128 LMOD1 leiomodin 1 gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1316308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visceral myopathy PMID:28292896 11744128 LMOD1 leiomodin 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1316308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11744128 LMOD1 leiomodin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1316308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11744128 LMOD1 leiomodin 1 gene DOID:289 endometriosis ISO RGD:1316308 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11744128 LMOD1 leiomodin 1 gene DOID:3393 coronary artery disease ISO RGD:1316308 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28530674 11744128 LMOD1 leiomodin 1 gene DOID:630 genetic disease ISO RGD:1316308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744128 LMOD1 leiomodin 1 gene DOID:9003331 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 ISO RGD:1316308 D RGD:7240710 20210616 OMIM 11744128 LMOD1 leiomodin 1 gene DOID:9003331 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 ISO RGD:1316308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 PMID:28292896 11744128 LMOD1 leiomodin 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1316308 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11744128 LMOD1 leiomodin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11744135 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:0050562 West syndrome ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant PMID:25741868|PMID:28492532 11744135 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:733239 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:24183451|PMID:28492532|PMID:29068549 11744135 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:20228407|PMID:22258530|PMID:22368301|PMID:24183449|PMID:24183451|PMID:25224718|PMID:25658047|PMID:25741868|PMID:26467025|PMID:26539891|PMID:26704558|PMID:28166811|PMID:28199897|PMID:28492532|PMID:29050398|PMID:29358611|PMID:29655203|PMID:31332438|PMID:33206935|PMID:33578420|PMID:9536098 11744135 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:20228407|PMID:22258530|PMID:22368301|PMID:22722545|PMID:24183449|PMID:24183451|PMID:25224718|PMID:25640679|PMID:25658047|PMID:25741868|PMID:26467025|PMID:26539891|PMID:26704558|PMID:28199897|PMID:28379358|PMID:28492532|PMID:29050398|PMID:29358611|PMID:29655203|PMID:31332438|PMID:31452935|PMID:31515523|PMID:31785789|PMID:33206935|PMID:33578420|PMID:35150594|PMID:9536098 11744135 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:0050952 spastic ataxia ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 11744135 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:0060041 autism spectrum disorder ISO RGD:733239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11744135 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:733239 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11744135 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:29050398|PMID:31474318|PMID:32963807 11744135 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:0080438 developmental and epileptic encephalopathy 5 ISO RGD:733239 D RGD:7240710 20180130 OMIM 11744135 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:0080438 developmental and epileptic encephalopathy 5 ISO RGD:733239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 5 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 5 PMID:11911890|PMID:17576681|PMID:18414213|PMID:20228407|PMID:20493457|PMID:22258530|PMID:25224718|PMID:25741868|PMID:26467025|PMID:26539891|PMID:28199897|PMID:28492532|PMID:29050398|PMID:29358611|PMID:29655203|PMID:30548380|PMID:31474318|PMID:32811770|PMID:32963807|PMID:36331550|PMID:9536098 11744135 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:0110095 short-rib thoracic dysplasia 11 with or without polydactyly ISO RGD:733239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 11 with or without polydactyly PMID:24183449|PMID:24183451|PMID:28379358|PMID:28492532|PMID:29068549|PMID:33578420 11744135 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:20228407|PMID:22258530|PMID:22368301|PMID:22722545|PMID:24183449|PMID:24183451|PMID:25224718|PMID:25640679|PMID:25658047|PMID:25741868|PMID:26467025|PMID:26539891|PMID:26704558|PMID:28199897|PMID:28379358|PMID:28492532|PMID:29050398|PMID:29358611|PMID:29655203|PMID:31332438|PMID:31452935|PMID:31515523|PMID:31785789|PMID:33206935|PMID:33578420|PMID:35150594|PMID:9536098 11744135 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:1059 intellectual disability ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 11744135 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:10907 microcephaly ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11744135 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:12377 spinal muscular atrophy ISO RGD:733239 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:25741868|PMID:28492532|PMID:30548380|PMID:31332438|PMID:32811770|PMID:33578420|PMID:34590414 11744135 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:1289 neurodegenerative disease ISO RGD:733239 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25015659 11744135 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:1826 epilepsy ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizures PMID:18414213|PMID:20228407|PMID:22258530|PMID:25224718|PMID:25741868|PMID:26467025|PMID:26539891|PMID:28492532|PMID:29358611 11744135 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:1826 epilepsy ISO RGD:733239 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:18414213|PMID:20228407|PMID:22258530|PMID:25224718|PMID:25741868|PMID:26467025|PMID:26539891|PMID:28492532|PMID:29358611|PMID:33818783 11744135 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:1826 epilepsy ISO RGD:733239 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:33818783 11744135 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:25741868|PMID:28492532 11744135 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25224718|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 11744135 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:574 peripheral nervous system disease ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 11744135 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:630 genetic disease ISO RGD:733239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11911890|PMID:17331725|PMID:17576681|PMID:18414213|PMID:19344873|PMID:19348700|PMID:20228407|PMID:20493457|PMID:22159418|PMID:22258530|PMID:22429196|PMID:22632975|PMID:22656320|PMID:23390136|PMID:24896178|PMID:25108116|PMID:25224718|PMID:25477152|PMID:25613900|PMID:25631096|PMID:25741868|PMID:26467025|PMID:26539891|PMID:28492532|PMID:28567303|PMID:29050398|PMID:29358611|PMID:31332438|PMID:33206935|PMID:33578420|PMID:9536098 11744135 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:25741868|PMID:28492532 11744135 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:870 neuropathy ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 11744135 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733239 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11744135 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:9002510 Focal Epilepsy with Speech Disorder and with or without Mental Retardation ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT PMID:25741868|PMID:28492532 11744135 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532|PMID:29050398 11744135 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:9008582 Developmental Disease ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11744209 PAK4 p21 (RAC1) activated kinase 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1317048 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11744209 PAK4 p21 (RAC1) activated kinase 4 gene DOID:10283 prostate cancer ISO RGD:1317048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11744209 PAK4 p21 (RAC1) activated kinase 4 gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:1317048 D RGD:9068941 20200609 RGD PMID:25744653|REF_RGD_ID:13504816 11744209 PAK4 p21 (RAC1) activated kinase 4 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1317048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11744209 PAK4 p21 (RAC1) activated kinase 4 gene DOID:630 genetic disease ISO RGD:1317048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744209 PAK4 p21 (RAC1) activated kinase 4 gene DOID:769 neuroblastoma ISO RGD:1317048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29048629 11744209 PAK4 p21 (RAC1) activated kinase 4 gene DOID:8466 retinal degeneration ISO RGD:1317049 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:16505058|REF_RGD_ID:7775028 11744209 PAK4 p21 (RAC1) activated kinase 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1317048 D RGD:9068941 20200609 RGD PMID:20697354|REF_RGD_ID:7775027 11744209 PAK4 p21 (RAC1) activated kinase 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317048 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11744223 KIF4B kinesin family member 4B gene DOID:630 genetic disease ISO RGD:1346328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744228 DNAAF6 dynein axonemal assembly factor 6 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1353450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 11744228 DNAAF6 dynein axonemal assembly factor 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11744228 DNAAF6 dynein axonemal assembly factor 6 gene DOID:0111850 primary ciliary dyskinesia 36 ISO RGD:1353450 D RGD:7240710 20190315 OMIM 11744228 DNAAF6 dynein axonemal assembly factor 6 gene DOID:0111850 primary ciliary dyskinesia 36 ISO RGD:1353450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 36, X-linked PMID:25741868|PMID:28041644|PMID:28492532|PMID:32170493 11744228 DNAAF6 dynein axonemal assembly factor 6 gene DOID:12849 autistic disorder ISO RGD:1353450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11744228 DNAAF6 dynein axonemal assembly factor 6 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1353450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:30067075 11744247 ACTN1 actinin alpha 1 gene DOID:0111053 platelet-type bleeding disorder 15 ISO RGD:736411 D RGD:7240710 20180130 OMIM 11744247 ACTN1 actinin alpha 1 gene DOID:0111053 platelet-type bleeding disorder 15 ISO RGD:736411 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Platelet-type bleeding disorder 15 PMID:23434115|PMID:24069336|PMID:25361813|PMID:25741868|PMID:25949529|PMID:26453073|PMID:26879394|PMID:28492532|PMID:28562514|PMID:30351444|PMID:31064749|PMID:31237726|PMID:31365757|PMID:32478077|PMID:32581362|PMID:34355501 11744247 ACTN1 actinin alpha 1 gene DOID:1588 thrombocytopenia ISO RGD:736411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:23434115|PMID:24069336|PMID:25361813|PMID:25741868|PMID:28492532|PMID:30351444|PMID:31064749|PMID:31237726|PMID:32581362 11744247 ACTN1 actinin alpha 1 gene DOID:2213 hemorrhagic disease ISO RGD:736411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 11744247 ACTN1 actinin alpha 1 gene DOID:630 genetic disease ISO RGD:736411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23434115|PMID:24069336|PMID:25361813|PMID:25741868|PMID:25949529|PMID:28492532|PMID:30351444|PMID:31064749|PMID:32581362 11744247 ACTN1 actinin alpha 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11744285 AFM afamin gene DOID:3021 acute kidney failure ISO RGD:1352528 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 11744285 AFM afamin gene DOID:630 genetic disease ISO RGD:1352528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744285 AFM afamin gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1352528 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11744285 AFM afamin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352528 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11744285 AFM afamin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1352528 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 11744307 FKBP14 FKBP prolyl isomerase 14 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1323300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related PMID:22265013|PMID:24677762|PMID:25741868|PMID:27149304|PMID:27905128|PMID:28492532|PMID:28617417|PMID:30561154|PMID:31063316|PMID:31132235 11744307 FKBP14 FKBP prolyl isomerase 14 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1323300 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:22265013|PMID:24677762|PMID:25741868|PMID:26467025|PMID:27149304|PMID:27905128|PMID:28492532|PMID:28617417|PMID:30561154|PMID:31063316|PMID:31132235 11744307 FKBP14 FKBP prolyl isomerase 14 gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1323300 D RGD:7240710 20180130 OMIM 11744307 FKBP14 FKBP prolyl isomerase 14 gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1323300 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:16199547|PMID:17576681|PMID:22265013|PMID:24677762|PMID:25741868|PMID:26467025|PMID:27149304|PMID:27905128|PMID:28492532|PMID:28617417|PMID:30561154|PMID:31063316|PMID:31132235|PMID:9536098 11744307 FKBP14 FKBP prolyl isomerase 14 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1323300 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:26467025|PMID:28492532 11744307 FKBP14 FKBP prolyl isomerase 14 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11744307 FKBP14 FKBP prolyl isomerase 14 gene DOID:630 genetic disease ISO RGD:1323300 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22265013|PMID:24677762|PMID:25741868|PMID:26467025|PMID:27149304|PMID:27905128|PMID:28492532|PMID:28617417|PMID:30561154|PMID:31063316|PMID:31132235 11744307 FKBP14 FKBP prolyl isomerase 14 gene DOID:9005077 Joint Instability ISO RGD:1323300 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:22265013|PMID:24677762|PMID:25741868|PMID:26467025|PMID:27149304|PMID:27905128|PMID:28492532|PMID:28617417|PMID:30561154|PMID:31063316|PMID:31132235 11744307 FKBP14 FKBP prolyl isomerase 14 gene DOID:9005603 Muscle Hypotonia ISO RGD:1323300 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: poor muscle tone PMID:22265013|PMID:24677762|PMID:25741868|PMID:26467025|PMID:27149304|PMID:27905128|PMID:28492532|PMID:28617417|PMID:30561154|PMID:31063316|PMID:31132235 11744316 NAA30 N-alpha-acetyltransferase 30, NatC catalytic subunit gene DOID:630 genetic disease ISO RGD:1346528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744325 TMEM186 transmembrane protein 186 gene DOID:0060174 GABA aminotransferase deficiency ISO RGD:1604027 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency PMID:25738457|PMID:28492532 11744325 TMEM186 transmembrane protein 186 gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:1604027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PMM2-congenital disorder of glycosylation PMID:28492532 11744325 TMEM186 transmembrane protein 186 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1604027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 11744325 TMEM186 transmembrane protein 186 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1604027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 11744325 TMEM186 transmembrane protein 186 gene DOID:5812 MHC class II deficiency ISO RGD:1604027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11744325 TMEM186 transmembrane protein 186 gene DOID:630 genetic disease ISO RGD:1604027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744331 GPR55 G protein-coupled receptor 55 gene DOID:0060476 Perlman syndrome ISO RGD:1348516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11744331 GPR55 G protein-coupled receptor 55 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1348516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11744331 GPR55 G protein-coupled receptor 55 gene DOID:10283 prostate cancer ISO RGD:1348516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11744331 GPR55 G protein-coupled receptor 55 gene DOID:14566 disease of cellular proliferation ISO RGD:1348516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27423937 11744331 GPR55 G protein-coupled receptor 55 gene DOID:4195 hyperglycemia ISO RGD:1348516 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:30148676 11744331 GPR55 G protein-coupled receptor 55 gene DOID:630 genetic disease ISO RGD:1348516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744331 GPR55 G protein-coupled receptor 55 gene DOID:9004657 Weight Gain ISO RGD:1348516 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:30148676 11744331 GPR55 G protein-coupled receptor 55 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1348516 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:30148676 11744338 TRIM15 tripartite motif containing 15 gene DOID:11372 megacolon ISO RGD:1322537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11744338 TRIM15 tripartite motif containing 15 gene DOID:630 genetic disease ISO RGD:1322537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744349 RNASE8 ribonuclease A family member 8 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1353668 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 11744349 RNASE8 ribonuclease A family member 8 gene DOID:630 genetic disease ISO RGD:1353668 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744349 RNASE8 ribonuclease A family member 8 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1353668 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11744353 ANKRD22 ankyrin repeat domain 22 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1317302 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:18456716|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9467011 11744353 ANKRD22 ankyrin repeat domain 22 gene DOID:630 genetic disease ISO RGD:1317302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744353 ANKRD22 ankyrin repeat domain 22 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1317302 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532 11744372 DAG1 dystroglycan 1 gene DOID:0050453 lissencephaly ISO RGD:1552006 D RGD:9068941 20220825 MouseDO OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 11744372 DAG1 dystroglycan 1 gene DOID:0050559 Fukuyama congenital muscular dystrophy ISO RGD:1344302 D RGD:9068941 20200609 RGD protein:decreased expression:brain, heart, skeletal muscle PMID:11445638|REF_RGD_ID:11537476 11744372 DAG1 dystroglycan 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1320792 D RGD:9068941 20200609 RGD PMID:24824861|REF_RGD_ID:11537406 11744372 DAG1 dystroglycan 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1344302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11744372 DAG1 dystroglycan 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1552006 D RGD:9068941 20200609 RGD PMID:18923033|REF_RGD_ID:11537405 11744372 DAG1 dystroglycan 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 11744372 DAG1 dystroglycan 1 gene DOID:0060852 Pierson syndrome ISO RGD:1344302 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 11744372 DAG1 dystroglycan 1 gene DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D ISO RGD:1344302 D RGD:9068941 20200609 RGD protein:increased degradation:skeletal muscle PMID:15833425|REF_RGD_ID:11073211 11744372 DAG1 dystroglycan 1 gene DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P ISO RGD:1344302 D RGD:7240710 20180130 OMIM 11744372 DAG1 dystroglycan 1 gene DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P ISO RGD:1344302 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P PMID:10875918|PMID:14678799|PMID:17576681|PMID:21388311|PMID:22237435|PMID:24033266|PMID:24052401|PMID:25503980|PMID:25671699|PMID:25741868|PMID:25934851|PMID:26467025|PMID:28492532|PMID:29036200|PMID:29134705|PMID:29337005|PMID:30450679|PMID:30919572|PMID:31066050|PMID:31097590|PMID:9536098 11744372 DAG1 dystroglycan 1 gene DOID:0111232 congenital muscular dystrophy-dystroglycanopathy type A9 ISO RGD:1344302 D RGD:7240710 20180130 OMIM 11744372 DAG1 dystroglycan 1 gene DOID:0111232 congenital muscular dystrophy-dystroglycanopathy type A9 ISO RGD:1344302 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 PMID:24033266|PMID:24052401|PMID:25741868|PMID:25934851|PMID:26467025|PMID:28492532|PMID:29134705 11744372 DAG1 dystroglycan 1 gene DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ISO RGD:1344302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:25741868|PMID:28492532 11744372 DAG1 dystroglycan 1 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1344302 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase 11744372 DAG1 dystroglycan 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 11744372 DAG1 dystroglycan 1 gene DOID:1059 intellectual disability ISO RGD:1344302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11744372 DAG1 dystroglycan 1 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:1344302 D RGD:9068941 20200609 RGD DNA:SNP: :p.N494H (human) PMID:17196572|REF_RGD_ID:11537474 11744372 DAG1 dystroglycan 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1344302 D RGD:9068941 20200609 RGD PMID:7630355|REF_RGD_ID:11552581 11744372 DAG1 dystroglycan 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1344302 D RGD:9068941 20200609 RGD protein:decreased expression:skeletal muscle PMID:11445638|REF_RGD_ID:11537476 11744372 DAG1 dystroglycan 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1344302 D RGD:9068941 20200609 RGD protein:increased degradation:skeletal muscle PMID:15833425|REF_RGD_ID:11073211 11744372 DAG1 dystroglycan 1 gene DOID:12236 primary biliary cholangitis ISO RGD:621890 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:12177244|REF_RGD_ID:2314895 11744372 DAG1 dystroglycan 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1552006 D RGD:9068941 20220825 MouseDO 11744372 DAG1 dystroglycan 1 gene DOID:3429 inclusion body myositis ISO RGD:732554 D RGD:9068941 20200609 RGD PMID:14972325|REF_RGD_ID:11537409 11744372 DAG1 dystroglycan 1 gene DOID:423 myopathy ISO RGD:1344302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868|PMID:28492532 11744372 DAG1 dystroglycan 1 gene DOID:5844 myocardial infarction treatment ISO RGD:621890 D RGD:9068941 20200609 RGD PMID:12034665|REF_RGD_ID:11541047 11744372 DAG1 dystroglycan 1 gene DOID:630 genetic disease ISO RGD:1344302 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 11744372 DAG1 dystroglycan 1 gene DOID:767 muscular atrophy ISO RGD:621890 D RGD:9068941 20200609 RGD protein:decreased expression:gastrocnemius PMID:12107060|REF_RGD_ID:625642 11744372 DAG1 dystroglycan 1 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:621890 D RGD:9068941 20200609 RGD PMID:16254495|REF_RGD_ID:11541065 11744372 DAG1 dystroglycan 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1344302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11744372 DAG1 dystroglycan 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621890 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:12177244|REF_RGD_ID:2314895 11744372 DAG1 dystroglycan 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11744372 DAG1 dystroglycan 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:621890 D RGD:9068941 20200609 RGD PMID:25545558|REF_RGD_ID:11541062 11744372 DAG1 dystroglycan 1 gene DOID:9002955 Nerve Degeneration ISO RGD:621890 D RGD:9068941 20200609 RGD PMID:16228655|REF_RGD_ID:11537480 11744372 DAG1 dystroglycan 1 gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:621890 D RGD:9068941 20200609 RGD PMID:21192954|REF_RGD_ID:11541061 11744372 DAG1 dystroglycan 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:621890 D RGD:9068941 20200609 RGD protein:decreased expression:skeletal muscle PMID:16323284|REF_RGD_ID:1581689 11744372 DAG1 dystroglycan 1 gene DOID:9537 Lassa fever ISO RGD:1344302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17287727 11744372 DAG1 dystroglycan 1 gene DOID:9884 muscular dystrophy ISO RGD:1318928 D RGD:9068941 20200609 RGD protein:decreased glycosylation:skeletal muscle PMID:11381262|REF_RGD_ID:1358757 11744403 NOVA1 NOVA alternative splicing regulator 1 gene DOID:630 genetic disease ISO RGD:1346053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744403 NOVA1 NOVA alternative splicing regulator 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1346053 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11744419 SMIM11 small integral membrane protein 11 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1351649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11744419 SMIM11 small integral membrane protein 11 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1351649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 11744419 SMIM11 small integral membrane protein 11 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1351649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11744419 SMIM11 small integral membrane protein 11 gene DOID:0110648 long QT syndrome 6 ISO RGD:1351649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 6 PMID:21626672|PMID:25640679|PMID:28492532 11744419 SMIM11 small integral membrane protein 11 gene DOID:1588 thrombocytopenia ISO RGD:1351649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 11744419 SMIM11 small integral membrane protein 11 gene DOID:2843 long QT syndrome ISO RGD:1351649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:25640679|PMID:28492532 11744434 C16H16orf46 chromosome 16 C16orf46 homolog gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1345260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:28492532 11744434 C16H16orf46 chromosome 16 C16orf46 homolog gene DOID:630 genetic disease ISO RGD:1345260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744453 LDHC lactate dehydrogenase C gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1349750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 11744453 LDHC lactate dehydrogenase C gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1349750 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 11744453 LDHC lactate dehydrogenase C gene DOID:1059 intellectual disability ISO RGD:1349750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11744453 LDHC lactate dehydrogenase C gene DOID:12336 male infertility ISO RGD:1349750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21565994|PMID:23486916 11744453 LDHC lactate dehydrogenase C gene DOID:630 genetic disease ISO RGD:1349750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744453 LDHC lactate dehydrogenase C gene DOID:850 lung disease ISO RGD:1349750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21602193 11744470 PRKD1 protein kinase D1 gene DOID:0080820 occupational asthma ISO RGD:1351212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27504716 11744470 PRKD1 protein kinase D1 gene DOID:10283 prostate cancer ISO RGD:1351212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11744470 PRKD1 protein kinase D1 gene DOID:1682 congenital heart disease ISO RGD:1351212 D RGD:9068941 20230427 RGD DNA:SNP:intron:c.265-1G>T (human) PMID:33919081|REF_RGD_ID:329322879 11744470 PRKD1 protein kinase D1 gene DOID:1682 congenital heart disease ISO RGD:1351212 D RGD:9068941 20230427 RGD DNA:missense mutations:CDS:p.L299W, p.G592R (human) PMID:27479907|REF_RGD_ID:11560583 11744470 PRKD1 protein kinase D1 gene DOID:299 adenocarcinoma ISO RGD:1351212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25240283 11744470 PRKD1 protein kinase D1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1351212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:28492532|PMID:31042289 11744470 PRKD1 protein kinase D1 gene DOID:5844 myocardial infarction treatment ISO RGD:620964 D RGD:9068941 20230420 RGD PMID:26064267|REF_RGD_ID:289474908 11744470 PRKD1 protein kinase D1 gene DOID:630 genetic disease ISO RGD:1351212 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11744470 PRKD1 protein kinase D1 gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:1551913 D RGD:9068941 20230420 RGD associated with Cardiomegaly PMID:25889640|REF_RGD_ID:290382408 11744470 PRKD1 protein kinase D1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1351212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25240283 11744470 PRKD1 protein kinase D1 gene DOID:9003936 Cardiomegaly ISO RGD:1351212 D RGD:9068941 20230420 RGD human gene in a mouse model PMID:16648482|REF_RGD_ID:243065275 11744470 PRKD1 protein kinase D1 gene DOID:9003936 Cardiomegaly ISO RGD:1551913 D RGD:9068941 20230406 RGD protein:increased activity:heart (mouse) PMID:24161911|REF_RGD_ID:243048462 11744470 PRKD1 protein kinase D1 gene DOID:9003936 Cardiomegaly ISO RGD:620964 D RGD:9068941 20230420 RGD protein:increased phosphorylation:heart left ventricle (rat) PMID:16648482|REF_RGD_ID:243065275 11744470 PRKD1 protein kinase D1 gene DOID:9003936 Cardiomegaly ameliorates ISO RGD:1551913 D RGD:9068941 20230427 RGD PMID:18287012|PMID:36172952|REF_RGD_ID:307436945|REF_RGD_ID:329322877 11744470 PRKD1 protein kinase D1 gene DOID:9004191 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA ISO RGD:1351212 D RGD:7240710 20190315 OMIM 11744470 PRKD1 protein kinase D1 gene DOID:9004191 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA ISO RGD:1351212 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital heart defects and ectodermal dysplasia PMID:25741868|PMID:27479907|PMID:28492532|PMID:32817298 11744470 PRKD1 protein kinase D1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1351212 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11744470 PRKD1 protein kinase D1 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:1351212 D RGD:9068941 20230420 RGD human gene in a mouse model PMID:25173922|REF_RGD_ID:307436943 11744470 PRKD1 protein kinase D1 gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:1551913 D RGD:9068941 20230420 RGD PMID:24345679|REF_RGD_ID:307727199 11744470 PRKD1 protein kinase D1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 11744520 STAG3 STAG3 cohesin complex component gene DOID:0070168 spermatogenic failure 3 ISO RGD:737601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:31682730|PMID:35176428 11744520 STAG3 STAG3 cohesin complex component gene DOID:0080865 primary ovarian insufficiency 8 ISO RGD:737601 D RGD:7240710 20180130 OMIM 11744520 STAG3 STAG3 cohesin complex component gene DOID:0080865 primary ovarian insufficiency 8 ISO RGD:737601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 8 PMID:24597867|PMID:25741868|PMID:28393351|PMID:30006057 11744520 STAG3 STAG3 cohesin complex component gene DOID:0112350 spermatogenic failure 61 ISO RGD:737601 D RGD:7240710 20211222 OMIM 11744520 STAG3 STAG3 cohesin complex component gene DOID:0112350 spermatogenic failure 61 ISO RGD:737601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 61 PMID:25741868|PMID:31125047|PMID:31682730 11744520 STAG3 STAG3 cohesin complex component gene DOID:10787 premature menopause ISO RGD:737601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature menopause PMID:25741868 11744520 STAG3 STAG3 cohesin complex component gene DOID:1924 hypogonadism ISO RGD:737601 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypergonadotropic hypogonadism PMID:25741868 11744520 STAG3 STAG3 cohesin complex component gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:737601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11744520 STAG3 STAG3 cohesin complex component gene DOID:5426 primary ovarian insufficiency ISO RGD:737601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure | ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868|PMID:35176428 11744520 STAG3 STAG3 cohesin complex component gene DOID:630 genetic disease ISO RGD:737601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744520 STAG3 STAG3 cohesin complex component gene DOID:9007456 Female Infertility ISO RGD:737601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Female infertility PMID:25741868 11744585 MAS1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:0060903 thrombosis ISO RGD:731461 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25339356 11744585 MAS1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:731461 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 11744585 MAS1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:10763 hypertension ISO RGD:3049 D RGD:9068941 20200609 RGD associated with Sleep Apnea Syndromes PMID:21040717|REF_RGD_ID:5129169 11744585 MAS1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:12236 primary biliary cholangitis ISO RGD:3049 D RGD:9068941 20200609 RGD PMID:17532087|REF_RGD_ID:9685452 11744585 MAS1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:12930 dilated cardiomyopathy treatment ISO RGD:3049 D RGD:9068941 20200609 RGD PMID:22120037|REF_RGD_ID:8549486 11744585 MAS1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:1686 glaucoma treatment ISO RGD:3049 D RGD:9068941 20200609 RGD PMID:23702784|REF_RGD_ID:9685447 11744585 MAS1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:6000 congestive heart failure ISO RGD:3049 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart PMID:21963897|REF_RGD_ID:8549482 11744585 MAS1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:630 genetic disease ISO RGD:731461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744585 MAS1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3049 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:19793108|REF_RGD_ID:2316776 11744585 MAS1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3049 D RGD:9068941 20200609 RGD mRNA:increased expression:renal cortex (rat) PMID:18679036|REF_RGD_ID:2313799 11744592 CLEC7A C-type lectin domain containing 7A gene DOID:13564 aspergillosis ISO RGD:1350458 D RGD:7240710 20230517 OMIM 11744592 CLEC7A C-type lectin domain containing 7A gene DOID:13564 aspergillosis ISO RGD:1350458 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aspergillosis, susceptibility to PMID:19864674|PMID:20807886|PMID:24033266|PMID:25741868 11744592 CLEC7A C-type lectin domain containing 7A gene DOID:630 genetic disease ISO RGD:1350458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744592 CLEC7A C-type lectin domain containing 7A gene DOID:9004055 Fungal Keratitis ISO RGD:1558559 D RGD:9068941 20210528 RGD mRNA:increased expression:cornea PMID:26963514|REF_RGD_ID:11526921 11744592 CLEC7A C-type lectin domain containing 7A gene DOID:9004055 Fungal Keratitis treatment ISO RGD:1558559 D RGD:9068941 20210528 RGD PMID:26963514|REF_RGD_ID:11526921 11744592 CLEC7A C-type lectin domain containing 7A gene DOID:9009037 Candidiasis, Familial, 4 ISO RGD:1350458 D RGD:7240710 20230517 OMIM 11744592 CLEC7A C-type lectin domain containing 7A gene DOID:9009037 Candidiasis, Familial, 4 ISO RGD:1350458 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial chronic mucocutaneous candidiasis PMID:19864674|PMID:20807886|PMID:24033266|PMID:25741868|PMID:28492532 11744647 RPS6KA6 ribosomal protein S6 kinase A6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11744647 RPS6KA6 ribosomal protein S6 kinase A6 gene DOID:12849 autistic disorder ISO RGD:1350176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11744647 RPS6KA6 ribosomal protein S6 kinase A6 gene DOID:630 genetic disease ISO RGD:1350176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744683 ATG2A autophagy related 2A gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1604391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11744683 ATG2A autophagy related 2A gene DOID:1059 intellectual disability ISO RGD:1604391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11744683 ATG2A autophagy related 2A gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11744683 ATG2A autophagy related 2A gene DOID:2746 glycogen storage disease V ISO RGD:1604391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11744683 ATG2A autophagy related 2A gene DOID:3070 high grade glioma ISO RGD:1604391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11744683 ATG2A autophagy related 2A gene DOID:5426 primary ovarian insufficiency ISO RGD:1604391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11744683 ATG2A autophagy related 2A gene DOID:630 genetic disease ISO RGD:1604391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744737 PRR35 proline rich 35 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1602296 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11744737 PRR35 proline rich 35 gene DOID:1826 epilepsy ISO RGD:1602296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:24463883|PMID:25558065|PMID:28492532 11744737 PRR35 proline rich 35 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1602296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11744737 PRR35 proline rich 35 gene DOID:630 genetic disease ISO RGD:1602296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744747 XPR1 xenotropic and polytropic retrovirus receptor 1 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1315237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 11744747 XPR1 xenotropic and polytropic retrovirus receptor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1315237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11744747 XPR1 xenotropic and polytropic retrovirus receptor 1 gene DOID:182 calcinosis ISO RGD:1315237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25938945 11744747 XPR1 xenotropic and polytropic retrovirus receptor 1 gene DOID:1826 epilepsy ISO RGD:1315237 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11744747 XPR1 xenotropic and polytropic retrovirus receptor 1 gene DOID:630 genetic disease ISO RGD:1315237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11744747 XPR1 xenotropic and polytropic retrovirus receptor 1 gene DOID:679 basal ganglia disease ISO RGD:1315237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25938945 11744747 XPR1 xenotropic and polytropic retrovirus receptor 1 gene DOID:9005299 Idiopathic Basal Ganglia Calcification 6 ISO RGD:1315237 D RGD:7240710 20180130 OMIM 11744747 XPR1 xenotropic and polytropic retrovirus receptor 1 gene DOID:9005299 Idiopathic Basal Ganglia Calcification 6 ISO RGD:1315237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 6 PMID:25741868|PMID:25938945|PMID:28492532|PMID:31003906|PMID:886353 11744747 XPR1 xenotropic and polytropic retrovirus receptor 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1315237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11744747 XPR1 xenotropic and polytropic retrovirus receptor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11744772 KASH5 KASH domain containing 5 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1602065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11744772 KASH5 KASH domain containing 5 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1602065 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 11744772 KASH5 KASH domain containing 5 gene DOID:14227 azoospermia ISO RGD:1602065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 11744772 KASH5 KASH domain containing 5 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1602065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 11744772 KASH5 KASH domain containing 5 gene DOID:630 genetic disease ISO RGD:1602065 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744809 CLDN23 claudin 23 gene DOID:3310 atopic dermatitis ISO RGD:1319100 D RGD:9068941 20200609 RGD mRNA:decreased expression:epidermis: PMID:21163515|REF_RGD_ID:11344875 11744809 CLDN23 claudin 23 gene DOID:630 genetic disease ISO RGD:1319100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744809 CLDN23 claudin 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11744810 AKAP10 A-kinase anchoring protein 10 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:70080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 11744810 AKAP10 A-kinase anchoring protein 10 gene DOID:12849 autistic disorder ISO RGD:70080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11744810 AKAP10 A-kinase anchoring protein 10 gene DOID:630 genetic disease ISO RGD:70080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744810 AKAP10 A-kinase anchoring protein 10 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:70080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 11744810 AKAP10 A-kinase anchoring protein 10 gene DOID:9007 sudden infant death syndrome ISO RGD:70080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868 11744836 USP22 ubiquitin specific peptidase 22 gene DOID:630 genetic disease ISO RGD:1321210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744853 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:0070271 Lynch syndrome 1 ISO RGD:1347724 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868|PMID:28492532 11744853 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:0090066 Fanconi-like syndrome ISO RGD:1557108 D RGD:9068941 20220825 MouseDO OMIM:227850 11744853 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1347724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11744853 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:0111092 Fanconi anemia complementation group P ISO RGD:1347724 D RGD:7240710 20180130 OMIM 11744853 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:0111092 Fanconi anemia complementation group P ISO RGD:1347724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group P PMID:17576681|PMID:21240275|PMID:21240277|PMID:21805310|PMID:22383991|PMID:22401137|PMID:22911665|PMID:23211700|PMID:23840564|PMID:23994477|PMID:24763404|PMID:25288723|PMID:25326635|PMID:25741868|PMID:26201965|PMID:26824983|PMID:27153395|PMID:28125078|PMID:28202063|PMID:28492532|PMID:28678401|PMID:29146900|PMID:29344583|PMID:29607586|PMID:29641532|PMID:29868112|PMID:29891941|PMID:30268473|PMID:30306255|PMID:30613976|PMID:30995915|PMID:31300551|PMID:31469826|PMID:32368696|PMID:32546565|PMID:33270637|PMID:33558524|PMID:9536098 11744853 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1347724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:21240277|PMID:22401137|PMID:22911665|PMID:23211700|PMID:23840564|PMID:25741868|PMID:26201965|PMID:28202063|PMID:28492532|PMID:28678401|PMID:30613976|PMID:32546565|PMID:33606809 11744853 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:10907 microcephaly ISO RGD:1347724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11744853 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:13636 Fanconi anemia ISO RGD:1347724 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia PMID:16199547|PMID:17576681|PMID:19596235|PMID:19596236|PMID:21240277|PMID:21805310|PMID:22383991|PMID:22401137|PMID:22911665|PMID:23211700|PMID:23840564|PMID:23994477|PMID:24763404|PMID:25288723|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26201965|PMID:26824983|PMID:27153395|PMID:27913932|PMID:28202063|PMID:28492532|PMID:28678401|PMID:29607586|PMID:29868112|PMID:29915322|PMID:30306255|PMID:30613976|PMID:31300551|PMID:32368696|PMID:33270637|PMID:9536098 11744853 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:13636 Fanconi anemia ISO RGD:1347724 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia PMID:16199547|PMID:17576681|PMID:19596235|PMID:19596236|PMID:21240277|PMID:21805310|PMID:22383991|PMID:22401137|PMID:2291166|PMID:22911665|PMID:23211700|PMID:23840564|PMID:23994477|PMID:24763404|PMID:25288723|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26201965|PMID:26824983|PMID:27153395|PMID:27913932|PMID:28202063|PMID:28492532|PMID:28678401|PMID:29146900|PMID:29344583|PMID:29607586|PMID:29641532|PMID:29868112|PMID:29891941|PMID:29915322|PMID:30268473|PMID:30306255|PMID:30613976|PMID:30995915|PMID:31300551|PMID:31469826|PMID:32368696|PMID:32546565|PMID:33270637|PMID:33606809|PMID:9536098 11744853 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:13636 Fanconi anemia ISO RGD:1347724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia PMID:16199547|PMID:17576681|PMID:19596235|PMID:19596236|PMID:21240275|PMID:21240277|PMID:21805310|PMID:22383991|PMID:22401137|PMID:2291166|PMID:22911665|PMID:23211700|PMID:23840564|PMID:23994477|PMID:24037726|PMID:24733792|PMID:24763404|PMID:25288723|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26201965|PMID:26824983|PMID:27153395|PMID:27913932|PMID:28125078|PMID:28202063|PMID:28492532|PMID:28678401|PMID:29146900|PMID:29344583|PMID:29607586|PMID:29641532|PMID:29868112|PMID:29891941|PMID:29915322|PMID:30268473|PMID:30306255|PMID:30613976|PMID:30995915|PMID:31300551|PMID:31469826|PMID:32368696|PMID:32546565|PMID:33270637|PMID:33558524|PMID:33606809|PMID:9536098 11744853 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:13636 Fanconi anemia ISO RGD:1347724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:16199547|PMID:17576681|PMID:19596235|PMID:19596236|PMID:21240275|PMID:21240277|PMID:21805310|PMID:22383991|PMID:22401137|PMID:2291166|PMID:22911665|PMID:23211700|PMID:23840564|PMID:23994477|PMID:24037726|PMID:24733792|PMID:24763404|PMID:25288723|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26201965|PMID:26689913|PMID:26824983|PMID:27153395|PMID:27913932|PMID:28125078|PMID:28202063|PMID:28492532|PMID:28678401|PMID:29146900|PMID:29344583|PMID:29607586|PMID:29641532|PMID:29868112|PMID:29891941|PMID:29915322|PMID:30268473|PMID:30306255|PMID:30613976|PMID:30995915|PMID:31300551|PMID:31469826|PMID:32368696|PMID:32546565|PMID:33270637|PMID:33558524|PMID:33606809|PMID:9536098 11744853 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:1612 breast cancer ISO RGD:1347724 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:22401137|PMID:22911665|PMID:23211700|PMID:23840564|PMID:25741868|PMID:26201965|PMID:28202063|PMID:28492532 11744853 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:1826 epilepsy ISO RGD:1347724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11744853 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1347724 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11744853 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1347724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 11744853 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:3068 glioblastoma ISO RGD:1347724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma multiforme PMID:25741868 11744853 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:630 genetic disease ISO RGD:1347724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11744853 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:687 hepatoblastoma ISO RGD:1347724 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:28492532 11744853 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1347724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 11744853 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 11744877 ZNF236 zinc finger protein 236 gene DOID:0050753 cerebellar ataxia ISO RGD:1320136 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 11744877 ZNF236 zinc finger protein 236 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1320136 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11744877 ZNF236 zinc finger protein 236 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1320136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 11744877 ZNF236 zinc finger protein 236 gene DOID:630 genetic disease ISO RGD:1320136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744877 ZNF236 zinc finger protein 236 gene DOID:6420 pulmonary valve stenosis ISO RGD:1320136 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 11744877 ZNF236 zinc finger protein 236 gene DOID:8445 intestinal volvulus ISO RGD:1320136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11744877 ZNF236 zinc finger protein 236 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1320136 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 11744877 ZNF236 zinc finger protein 236 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11744877 ZNF236 zinc finger protein 236 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1320136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11744912 PLA2G2D phospholipase A2 group IID gene DOID:0060369 Parkinson's disease 6 ISO RGD:1320432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11744912 PLA2G2D phospholipase A2 group IID gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1320432 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11744912 PLA2G2D phospholipase A2 group IID gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1320432 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11744912 PLA2G2D phospholipase A2 group IID gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1320432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11744912 PLA2G2D phospholipase A2 group IID gene DOID:630 genetic disease ISO RGD:1320432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744912 PLA2G2D phospholipase A2 group IID gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1320432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11744923 BIN3 bridging integrator 3 gene DOID:630 genetic disease ISO RGD:1317921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744923 BIN3 bridging integrator 3 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1317921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 11744943 GK5 glycerol kinase 5 gene DOID:630 genetic disease ISO RGD:1606415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11744968 C11H11orf54 chromosome 11 C11orf54 homolog gene DOID:1059 intellectual disability ISO RGD:1603055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11744968 C11H11orf54 chromosome 11 C11orf54 homolog gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1309534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11744995 C11H11orf16 chromosome 11 C11orf16 homolog gene DOID:630 genetic disease ISO RGD:1347638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11745004 ZNF594 zinc finger protein 594 gene DOID:630 genetic disease ISO RGD:1343049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11745010 TSGA13 testis specific 13 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11745010 TSGA13 testis specific 13 gene DOID:630 genetic disease ISO RGD:1314383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11745026 ABCB9 ATP binding cassette subfamily B member 9 gene DOID:630 genetic disease ISO RGD:733003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11745051 SIRT2 sirtuin 2 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:621481 D RGD:9068941 20200609 RGD associated with Obesity PMID:22327056|REF_RGD_ID:9586049 11745051 SIRT2 sirtuin 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:733995 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11745051 SIRT2 sirtuin 2 gene DOID:3070 high grade glioma treatment ISO RGD:621481 D RGD:9068941 20200609 RGD PMID:23522375|REF_RGD_ID:9586035 11745051 SIRT2 sirtuin 2 gene DOID:3669 intermittent claudication ISO RGD:621481 D RGD:9068941 20200609 RGD associated with Spinal Stenosis;protein:decreased expression:dorsal horn of spinal cord, ventral horn of spinal cord PMID:23658678|REF_RGD_ID:9586024 11745051 SIRT2 sirtuin 2 gene DOID:630 genetic disease ISO RGD:733995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11745051 SIRT2 sirtuin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733995 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11745092 LOC100982616 proline-rich protein 5 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1606315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11745092 LOC100982616 proline-rich protein 5 gene DOID:1059 intellectual disability ISO RGD:1606315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11745092 LOC100982616 proline-rich protein 5 gene DOID:630 genetic disease ISO RGD:1606315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11745134 GADD45B growth arrest and DNA damage inducible beta gene DOID:0080600 COVID-19 ISO RGD:1319220 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11745134 GADD45B growth arrest and DNA damage inducible beta gene DOID:0080600 COVID-19 ISO RGD:1319220 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 11745134 GADD45B growth arrest and DNA damage inducible beta gene DOID:37 skin disease ISO RGD:1319220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11745134 GADD45B growth arrest and DNA damage inducible beta gene DOID:630 genetic disease ISO RGD:1319220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11745134 GADD45B growth arrest and DNA damage inducible beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11745134 GADD45B growth arrest and DNA damage inducible beta gene DOID:9007964 Arsenic Poisoning ISO RGD:1319220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11745143 LOC100983778 amylase alpha 2A gene DOID:12849 autistic disorder ISO RGD:732589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11745143 LOC100983778 amylase alpha 2A gene DOID:1826 epilepsy ISO RGD:732589 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11745143 LOC100983778 amylase alpha 2A gene DOID:630 genetic disease ISO RGD:732589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11745157 EGLN2 egl-9 family hypoxia inducible factor 2 gene DOID:0050742 nicotine dependence ISO RGD:736328 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20418890 11745157 EGLN2 egl-9 family hypoxia inducible factor 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:736328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11745157 EGLN2 egl-9 family hypoxia inducible factor 2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:736328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11745157 EGLN2 egl-9 family hypoxia inducible factor 2 gene DOID:2340 craniosynostosis ISO RGD:736328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11745157 EGLN2 egl-9 family hypoxia inducible factor 2 gene DOID:4450 renal cell carcinoma ISO RGD:736328 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:20978146|REF_RGD_ID:13504705 11745157 EGLN2 egl-9 family hypoxia inducible factor 2 gene DOID:630 genetic disease ISO RGD:736328 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11745157 EGLN2 egl-9 family hypoxia inducible factor 2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:736328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11745157 EGLN2 egl-9 family hypoxia inducible factor 2 gene DOID:9269 maple syrup urine disease ISO RGD:736328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11745179 UBA2 ubiquitin like modifier activating enzyme 2 gene DOID:0060408 chromosome 19q13.11 deletion syndrome ISO RGD:1602133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 19q13.11 deletion syndrome, distal PMID:25741868 11745179 UBA2 ubiquitin like modifier activating enzyme 2 gene DOID:0090020 split hand-foot malformation ISO RGD:1602133 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ectrodactyly PMID:25741868|PMID:34040189 11745179 UBA2 ubiquitin like modifier activating enzyme 2 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1602133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11745179 UBA2 ubiquitin like modifier activating enzyme 2 gene DOID:630 genetic disease ISO RGD:1602133 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:34040189 11745179 UBA2 ubiquitin like modifier activating enzyme 2 gene DOID:9004913 ACCES Syndrome ISO RGD:1602133 D RGD:7240710 20220831 OMIM 11745179 UBA2 ubiquitin like modifier activating enzyme 2 gene DOID:9004913 ACCES Syndrome ISO RGD:1602133 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: ACCES syndrome | ClinVar Annotator: match by term: APLASIA CUTIS CONGENITA WITH ECTRODACTYLY SKELETAL SYNDROME PMID:11920840|PMID:25741868|PMID:28110515|PMID:28492532|PMID:31332306|PMID:31587267|PMID:32758660|PMID:34040189 11745204 DNTTIP2 deoxynucleotidyltransferase terminal interacting protein 2 gene DOID:630 genetic disease ISO RGD:1604625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11745216 SLC18A1 solute carrier family 18 member A1 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:737319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 11745216 SLC18A1 solute carrier family 18 member A1 gene DOID:14175 von Hippel-Lindau disease ISO RGD:737319 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor (human) PMID:16189177|REF_RGD_ID:5131200 11745216 SLC18A1 solute carrier family 18 member A1 gene DOID:3312 bipolar disorder ISO RGD:737319 D RGD:9068941 20200609 RGD DNA:SNPs:5' utr, cds:g.-584A>G (rs988713), p.T136I (rs1390938) (human) PMID:16936705|REF_RGD_ID:5131197 11745216 SLC18A1 solute carrier family 18 member A1 gene DOID:5419 schizophrenia ISO RGD:737319 D RGD:9068941 20200609 RGD DNA:snp:cds:p.T4P (human) PMID:18451639|REF_RGD_ID:5131198 11745216 SLC18A1 solute carrier family 18 member A1 gene DOID:630 genetic disease ISO RGD:737319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11745235 F7 coagulation factor VII gene DOID:0080941 acquired angioedema disease_progression ISO RGD:1345586 D RGD:9068941 20200609 RGD PMID:9129025|REF_RGD_ID:11565081 11745235 F7 coagulation factor VII gene DOID:10763 hypertension ISO RGD:1345586 D RGD:9068941 20200609 RGD PMID:10450539|REF_RGD_ID:2312402 11745235 F7 coagulation factor VII gene DOID:10763 hypertension ISO RGD:1345586 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:8123879|REF_RGD_ID:2312412 11745235 F7 coagulation factor VII gene DOID:10763 hypertension ISO RGD:628678 D RGD:9068941 20200609 RGD protein:increased activity:plasma (rat) PMID:812575|REF_RGD_ID:2312323 11745235 F7 coagulation factor VII gene DOID:11247 disseminated intravascular coagulation ISO RGD:1345586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16159073 11745235 F7 coagulation factor VII gene DOID:1168 familial hyperlipidemia ISO RGD:628678 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:11776312|REF_RGD_ID:2312300 11745235 F7 coagulation factor VII gene DOID:1247 blood coagulation disease ISO RGD:1345586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of coagulation PMID:25741868|PMID:28492532|PMID:31064749|PMID:8844208 11745235 F7 coagulation factor VII gene DOID:1459 hypothyroidism ISO RGD:628678 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:989968|REF_RGD_ID:2312322 11745235 F7 coagulation factor VII gene DOID:14735 hereditary angioedema disease_progression ISO RGD:1345586 D RGD:9068941 20200609 RGD PMID:9129025|REF_RGD_ID:11565081 11745235 F7 coagulation factor VII gene DOID:1588 thrombocytopenia treatment ISO RGD:1345586 D RGD:9068941 20200609 RGD human protein in a rat model PMID:19175492|REF_RGD_ID:11049531 11745235 F7 coagulation factor VII gene DOID:1612 breast cancer ISO RGD:1345586 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:19996301|REF_RGD_ID:11049547 11745235 F7 coagulation factor VII gene DOID:2213 hemorrhagic disease ISO RGD:1345586 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:10862079|PMID:11092214|PMID:11931672|PMID:14521598|PMID:15456489|PMID:15735798|PMID:15741795|PMID:18282149|PMID:18976247|PMID:22180436|PMID:24533960|PMID:25582404|PMID:25741868|PMID:27227566|PMID:28492532|PMID:29246447|PMID:29618153|PMID:31064749|PMID:7919338|PMID:7981691 11745235 F7 coagulation factor VII gene DOID:2215 factor VII deficiency ISO RGD:1345586 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital factor VII deficiency | ClinVar Annotator: match by term: Factor VII deficiency PMID:10554827|PMID:10739380|PMID:10862079|PMID:10959697|PMID:10984565|PMID:11091194|PMID:11092214|PMID:11110717|PMID:11129332|PMID:11139238|PMID:11225604|PMID:11260055|PMID:11313743|PMID:11529858|PMID:11931672|PMID:12181036|PMID:12472587|PMID:12632035|PMID:12903033|PMID:12935978|PMID:14521598|PMID:14717781|PMID:15142120|PMID:15456489|PMID:15735798|PMID:15741795|PMID:1634227|PMID:18282149|PMID:18669152|PMID:18976247|PMID:19751712|PMID:20040857|PMID:2070047|PMID:20735728|PMID:20958793|PMID:21287501|PMID:21902896|PMID:22180436|PMID:22327826|PMID:22873696|PMID:23358202|PMID:24033266|PMID:24533960|PMID:25582404|PMID:25741868|PMID:25828579|PMID:25863091|PMID:25952977|PMID:26105150|PMID:27227566|PMID:27848944|PMID:28447100|PMID:28492532|PMID:29246447|PMID:29618153|PMID:30208845|PMID:31064749|PMID:31273093|PMID:32333443|PMID:34355501|PMID:6812354|PMID:7919338|PMID:7974346|PMID:7981691|PMID:8242057|PMID:8244334|PMID:8364544|PMID:8652821|PMID:8883260|PMID:8940045|PMID:8978290|PMID:9414278|PMID:9576180|PMID:9716591 11745235 F7 coagulation factor VII gene DOID:2215 factor VII deficiency susceptibility ISO RGD:1345586 D RGD:7240710 20230505 OMIM 11745235 F7 coagulation factor VII gene DOID:2222 factor X deficiency ISO RGD:1345586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:10984565|PMID:12181036|PMID:25741868|PMID:34355501 11745235 F7 coagulation factor VII gene DOID:2235 prothrombin deficiency ISO RGD:628678 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (rat) PMID:2810399|REF_RGD_ID:2312318 11745235 F7 coagulation factor VII gene DOID:2349 arteriosclerosis severity ISO RGD:1345586 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:9569183|REF_RGD_ID:2312403 11745235 F7 coagulation factor VII gene DOID:2394 ovarian cancer ISO RGD:1345586 D RGD:9068941 20200609 RGD protein:increased expression:ovarian surface epithelium (human) PMID:19904262|REF_RGD_ID:11049516 11745235 F7 coagulation factor VII gene DOID:2741 bilirubin metabolic disorder ISO RGD:628678 D RGD:9068941 20200609 RGD protein:decreased expression:serum (rat) PMID:14724430|REF_RGD_ID:1304286 11745235 F7 coagulation factor VII gene DOID:2841 asthma treatment ISO RGD:628678 D RGD:9068941 20200609 RGD PMID:24523826|REF_RGD_ID:11040539 11745235 F7 coagulation factor VII gene DOID:2913 acute pancreatitis treatment ISO RGD:1345586 D RGD:9068941 20200609 RGD human protein in a rat model PMID:17506000|REF_RGD_ID:11049543 11745235 F7 coagulation factor VII gene DOID:3393 coronary artery disease ISO RGD:1345586 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:R353Q (human) PMID:11334615|REF_RGD_ID:2312397 11745235 F7 coagulation factor VII gene DOID:3393 coronary artery disease ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) PMID:10599031|REF_RGD_ID:2312400 11745235 F7 coagulation factor VII gene DOID:3393 coronary artery disease ISO RGD:1345586 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:8522401|REF_RGD_ID:2312408 11745235 F7 coagulation factor VII gene DOID:3526 cerebral infarction ISO RGD:1345586 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:plasma (human) PMID:14733777|REF_RGD_ID:11049518 11745235 F7 coagulation factor VII gene DOID:3526 cerebral infarction treatment ISO RGD:1345586 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:21998055|REF_RGD_ID:11049520 11745235 F7 coagulation factor VII gene DOID:4195 hyperglycemia ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human) PMID:3240844|REF_RGD_ID:2312413 11745235 F7 coagulation factor VII gene DOID:557 kidney disease ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) PMID:15608477|REF_RGD_ID:2312390 11745235 F7 coagulation factor VII gene DOID:576 proteinuria ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus; protein:increased activity:plasma (human) PMID:509177|REF_RGD_ID:2312414 11745235 F7 coagulation factor VII gene DOID:5844 myocardial infarction ISO RGD:1345586 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myocardial infarction, decreased susceptibility to | ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:10554827|PMID:10862079|PMID:10984565|PMID:11092214|PMID:11129332|PMID:11931672|PMID:12181036|PMID:12903033|PMID:12935978|PMID:14521598|PMID:15142120|PMID:15456489|PMID:15735798|PMID:15741795|PMID:1634227|PMID:18282149|PMID:18669152|PMID:18976247|PMID:20040857|PMID:2070047|PMID:20735728|PMID:20958793|PMID:21902896|PMID:22180436|PMID:24533960|PMID:25582404|PMID:25741868|PMID:25828579|PMID:25952977|PMID:26105150|PMID:27227566|PMID:28492532|PMID:29246447|PMID:29618153|PMID:31064749|PMID:34355501|PMID:6812354|PMID:7919338|PMID:7981691|PMID:8242057|PMID:8883260 11745235 F7 coagulation factor VII gene DOID:5844 myocardial infarction susceptibility ISO RGD:1345586 D RGD:7240710 20190502 OMIM 11745235 F7 coagulation factor VII gene DOID:630 genetic disease ISO RGD:1345586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11745235 F7 coagulation factor VII gene DOID:8805 intermediate coronary syndrome ISO RGD:1345586 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:10653827|REF_RGD_ID:2312399 11745235 F7 coagulation factor VII gene DOID:8947 diabetic retinopathy ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human) PMID:10837382|REF_RGD_ID:2312398 11745235 F7 coagulation factor VII gene DOID:9000363 Hematuria ISO RGD:1345586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17133240 11745235 F7 coagulation factor VII gene DOID:9000790 Postoperative Complications ISO RGD:1345586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12707733 11745235 F7 coagulation factor VII gene DOID:9001044 Choroidal Neovascularization ISO RGD:731512 D RGD:9068941 20200609 RGD mouse protein in a rat model PMID:19357351|REF_RGD_ID:2312299 11745235 F7 coagulation factor VII gene DOID:9001542 Albuminuria ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human) PMID:8458188|REF_RGD_ID:2312410 11745235 F7 coagulation factor VII gene DOID:9001542 Albuminuria no_association ISO RGD:1345586 D RGD:9068941 20200609 RGD PMID:8250495|REF_RGD_ID:2312407 11745235 F7 coagulation factor VII gene DOID:9001542 Albuminuria severity ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) PMID:9187410|REF_RGD_ID:2312406 11745235 F7 coagulation factor VII gene DOID:9002153 Chronic Allograft Dysfunction treatment ISO RGD:1345586 D RGD:9068941 20200609 RGD human protein in a rat model PMID:12095034|REF_RGD_ID:11049508 11745235 F7 coagulation factor VII gene DOID:9002557 Inherited Blood Coagulation Disease treatment ISO RGD:1345586 D RGD:9068941 20200609 RGD PMID:10469179|REF_RGD_ID:11041654 11745235 F7 coagulation factor VII gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1345586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16671457|PMID:21127298 11745235 F7 coagulation factor VII gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:1345586 D RGD:9068941 20200609 RGD human protein in a rat model PMID:16671457|REF_RGD_ID:11049545 11745235 F7 coagulation factor VII gene DOID:9003104 Intracranial Hemorrhages ISO RGD:1345586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15595332|PMID:16159073|PMID:18617125|PMID:20172985|PMID:20522813 11745235 F7 coagulation factor VII gene DOID:9003121 Thromboembolism ISO RGD:1345586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20172985 11745235 F7 coagulation factor VII gene DOID:9003356 Extrahepatic Portal Vein Obstruction ISO RGD:628678 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:17660074|REF_RGD_ID:2312312 11745235 F7 coagulation factor VII gene DOID:9003646 Arterial Thrombosis treatment ISO RGD:1345586 D RGD:9068941 20200609 RGD human protein in a rat model PMID:11167855|REF_RGD_ID:11049507 11745235 F7 coagulation factor VII gene DOID:9003646 Arterial Thrombosis treatment ISO RGD:628678 D RGD:9068941 20200609 RGD PMID:12714830|REF_RGD_ID:11041657 11745235 F7 coagulation factor VII gene DOID:9003871 Venous Thrombosis ISO RGD:1345586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14967414 11745235 F7 coagulation factor VII gene DOID:9003871 Venous Thrombosis treatment ISO RGD:628678 D RGD:9068941 20200609 RGD PMID:16378835|REF_RGD_ID:11041650 11745235 F7 coagulation factor VII gene DOID:9004484 Sepsis ISO RGD:628678 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (rat) PMID:3660344|REF_RGD_ID:2312320 11745235 F7 coagulation factor VII gene DOID:9004484 Sepsis treatment ISO RGD:628678 D RGD:9068941 20200609 RGD PMID:12000738|REF_RGD_ID:1598921 11745235 F7 coagulation factor VII gene DOID:9004562 Smoke Inhalation Injury ISO RGD:628678 D RGD:9068941 20200609 RGD protein:decreased expression:serum (rat) PMID:15204765|REF_RGD_ID:2312315 11745235 F7 coagulation factor VII gene DOID:9004590 Acute Liver Failure ISO RGD:1345586 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 11745235 F7 coagulation factor VII gene DOID:9005269 Stable Angina ISO RGD:1345586 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:17357481|REF_RGD_ID:11049525 11745235 F7 coagulation factor VII gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628678 D RGD:9068941 20200609 RGD PMID:11474472|REF_RGD_ID:2312396 11745235 F7 coagulation factor VII gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628678 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (rat) PMID:16779662|REF_RGD_ID:2312313 11745235 F7 coagulation factor VII gene DOID:9005930 Endotoxemia ISO RGD:628678 D RGD:9068941 20200609 RGD PMID:11092686|REF_RGD_ID:7394782 11745235 F7 coagulation factor VII gene DOID:9005930 Endotoxemia treatment ISO RGD:731512 D RGD:9068941 20200609 RGD PMID:16378835|REF_RGD_ID:11041650 11745235 F7 coagulation factor VII gene DOID:9006205 Animal Disease Models ISO RGD:1345586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21127298 11745235 F7 coagulation factor VII gene DOID:9006493 Glandular and Epithelial Neoplasms ISO RGD:628678 D RGD:9068941 20200609 RGD protein:altered activity:plasma (rat) PMID:2716922|REF_RGD_ID:2312392 11745235 F7 coagulation factor VII gene DOID:9006599 Hypertriglyceridemia ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) PMID:19329212|REF_RGD_ID:2312379 11745235 F7 coagulation factor VII gene DOID:9007622 Acute Subdural Hematoma ISO RGD:1345586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12503044 11745235 F7 coagulation factor VII gene DOID:9007692 Insulin Resistance severity ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) PMID:9187410|REF_RGD_ID:2312406 11745235 F7 coagulation factor VII gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:1345586 D RGD:9068941 20200609 RGD human protein in a rat model PMID:22920553|REF_RGD_ID:11041662 11745235 F7 coagulation factor VII gene DOID:9008217 Hemorrhage ISO RGD:1345586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12707733|PMID:12851533|PMID:16553518 11745235 F7 coagulation factor VII gene DOID:9008443 Colorectal Neoplasms severity ISO RGD:1345586 D RGD:9068941 20200609 RGD protein:increased expression:colorectal mucosa (human) PMID:22166631|REF_RGD_ID:11049522 11745235 F7 coagulation factor VII gene DOID:9008598 Traumatic Intracranial Hemorrhage ISO RGD:1345586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20370756 11745235 F7 coagulation factor VII gene DOID:9256 colorectal cancer ISO RGD:1345586 D RGD:9068941 20200609 RGD human protein in a rat model PMID:19062044|REF_RGD_ID:11049532 11745235 F7 coagulation factor VII gene DOID:9351 diabetes mellitus ISO RGD:628678 D RGD:9068941 20200609 RGD PMID:10910004|REF_RGD_ID:2312393 11745235 F7 coagulation factor VII gene DOID:9351 diabetes mellitus ISO RGD:628678 D RGD:9068941 20200609 RGD protein:increased activity:plasma (rat) PMID:10899350|REF_RGD_ID:1598920 11745235 F7 coagulation factor VII gene DOID:9351 diabetes mellitus no_association ISO RGD:1345586 D RGD:9068941 20200609 RGD PMID:15258325|REF_RGD_ID:2312391 11745235 F7 coagulation factor VII gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345586 D RGD:9068941 20200609 RGD PMID:11689270|REF_RGD_ID:2312382 11745235 F7 coagulation factor VII gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Brain Infarction; protein:increased activity:plasma (human) PMID:18000605|REF_RGD_ID:2312380 11745235 F7 coagulation factor VII gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Kidney Failure; protein:increased expression:plasma (human) PMID:15860378|REF_RGD_ID:2312383 11745235 F7 coagulation factor VII gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345586 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:17785358|REF_RGD_ID:2312381 11745235 F7 coagulation factor VII gene DOID:9352 type 2 diabetes mellitus ISO RGD:628678 D RGD:9068941 20200609 RGD PMID:14614217|REF_RGD_ID:2312394 11745235 F7 coagulation factor VII gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1345586 D RGD:9068941 20200609 RGD PMID:11137328|REF_RGD_ID:2312386 11745235 F7 coagulation factor VII gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1345586 D RGD:9068941 20200609 RGD PMID:10332679|REF_RGD_ID:2312388 11745235 F7 coagulation factor VII gene DOID:9743 diabetic neuropathy ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:altered expression:plasma (human) PMID:10468085|REF_RGD_ID:2312401 11745235 F7 coagulation factor VII gene DOID:9744 type 1 diabetes mellitus ISO RGD:1345586 D RGD:9068941 20200609 RGD PMID:11146704|REF_RGD_ID:2312385 11745235 F7 coagulation factor VII gene DOID:9744 type 1 diabetes mellitus ISO RGD:1345586 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:R353Q (human) PMID:9686915|REF_RGD_ID:2312389 11745235 F7 coagulation factor VII gene DOID:9744 type 1 diabetes mellitus ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Kidney Failure; protein:increased expression:plasma (human) PMID:15860378|REF_RGD_ID:2312383 11745235 F7 coagulation factor VII gene DOID:9744 type 1 diabetes mellitus ISO RGD:1345586 D RGD:9068941 20200609 RGD protein:increased activity, expression:plasma (human) PMID:11297753|REF_RGD_ID:2312384 11745235 F7 coagulation factor VII gene DOID:9970 obesity ISO RGD:1345586 D RGD:9068941 20200609 RGD PMID:14513073|REF_RGD_ID:2312395 11745235 F7 coagulation factor VII gene DOID:9970 obesity ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:9258277|REF_RGD_ID:2312404 11745235 F7 coagulation factor VII gene DOID:9970 obesity ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) PMID:16739871|REF_RGD_ID:1625710 11745235 F7 coagulation factor VII gene DOID:9970 obesity ISO RGD:1345586 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:19329212|REF_RGD_ID:2312379 11745258 FAM78B family with sequence similarity 78 member B gene DOID:1540 parathyroid carcinoma ISO RGD:1604229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11745258 FAM78B family with sequence similarity 78 member B gene DOID:630 genetic disease ISO RGD:1604229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11745258 FAM78B family with sequence similarity 78 member B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11745275 PSPN persephin gene DOID:0080490 mucolipidosis type IV ISO RGD:736997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11745275 PSPN persephin gene DOID:630 genetic disease ISO RGD:736997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11745280 LDLRAD2 low density lipoprotein receptor class A domain containing 2 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1606368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11745280 LDLRAD2 low density lipoprotein receptor class A domain containing 2 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1606368 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11745280 LDLRAD2 low density lipoprotein receptor class A domain containing 2 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1606368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11745280 LDLRAD2 low density lipoprotein receptor class A domain containing 2 gene DOID:0090005 Schwartz-Jampel syndrome 1 ISO RGD:1606368 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar Annotator: match by term: Schwartz-Jampel syndrome type 1 PMID:11038441|PMID:11941538|PMID:25504735|PMID:25741868|PMID:26467025|PMID:28492532 11745280 LDLRAD2 low density lipoprotein receptor class A domain containing 2 gene DOID:10907 microcephaly ISO RGD:1606368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11745280 LDLRAD2 low density lipoprotein receptor class A domain containing 2 gene DOID:630 genetic disease ISO RGD:1606368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25504735|PMID:25741868|PMID:26467025|PMID:28492532 11745280 LDLRAD2 low density lipoprotein receptor class A domain containing 2 gene DOID:65 connective tissue disease ISO RGD:1606368 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25504735|PMID:25741868|PMID:26467025|PMID:28492532 11745280 LDLRAD2 low density lipoprotein receptor class A domain containing 2 gene DOID:9005084 Kniest Like Dysplasia Lethal ISO RGD:1606368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal Kniest-like syndrome PMID:25504735|PMID:25741868|PMID:26467025|PMID:28492532 11745280 LDLRAD2 low density lipoprotein receptor class A domain containing 2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1606368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11745293 SERPINA12 serpin family A member 12 gene DOID:0081063 DICER1 syndrome ISO RGD:1348482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 11745293 SERPINA12 serpin family A member 12 gene DOID:630 genetic disease ISO RGD:1348482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11745293 SERPINA12 serpin family A member 12 gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:1348482 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:16030142|REF_RGD_ID:1547845 11745293 SERPINA12 serpin family A member 12 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:708485 D RGD:9068941 20200609 RGD PMID:16030142|REF_RGD_ID:1547845 11745293 SERPINA12 serpin family A member 12 gene DOID:9970 obesity treatment ISO RGD:708485 D RGD:9068941 20200609 RGD PMID:16030142|REF_RGD_ID:1547845 11745309 TMED8 transmembrane p24 trafficking protein family member 8 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1347349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:28492532 11745309 TMED8 transmembrane p24 trafficking protein family member 8 gene DOID:630 genetic disease ISO RGD:1347349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:0050553 JMP syndrome ISO RGD:1350403 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:0050563 nonsyndromic deafness ISO RGD:1350403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Deafness PMID:25633957 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:0060465 fibrochondrogenesis ISO RGD:1350403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1350403 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:0080026 otospondylomegaepiphyseal dysplasia, autosomal recessive ISO RGD:1350403 D RGD:7240710 20180130 OMIM 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:0080026 otospondylomegaepiphyseal dysplasia, autosomal recessive ISO RGD:1350403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Insley-Astley syndrome | ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive PMID:10677296|PMID:15558753|PMID:15922184|PMID:16637051|PMID:17576681|PMID:21204229|PMID:22938506|PMID:23967202|PMID:24033266|PMID:25240749|PMID:25633957|PMID:25741868|PMID:26467025|PMID:26691295|PMID:27068579|PMID:28492532|PMID:28692176|PMID:30311386|PMID:32747562|PMID:7859284|PMID:9188673|PMID:9536098 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:0080046 Stickler syndrome ISO RGD:1350403 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Stickler Syndrome, Dominant PMID:15922184|PMID:22938506|PMID:23967202|PMID:24033266|PMID:25240749|PMID:25633957|PMID:25741868|PMID:26467025|PMID:26691295|PMID:27068579|PMID:28492532 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1350403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:25741868|PMID:28492532 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:0080672 fibrochondrogenesis 1 ISO RGD:1350403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis 1 PMID:24033266|PMID:25741868|PMID:28492532 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:0080673 fibrochondrogenesis 2 ISO RGD:1350403 D RGD:7240710 20180130 OMIM 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:0080673 fibrochondrogenesis 2 ISO RGD:1350403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis 2 PMID:10677296|PMID:15558753|PMID:15922184|PMID:17576681|PMID:21204229|PMID:22246659|PMID:22938506|PMID:23967202|PMID:24033266|PMID:25240749|PMID:25633957|PMID:25741868|PMID:26467025|PMID:26691295|PMID:27068579|PMID:28492532|PMID:28692176|PMID:30311386|PMID:9536098 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant ISO RGD:1350403 D RGD:7240710 20180130 OMIM 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant ISO RGD:1350403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant | ClinVar Annotator: match by term: Pierre Robin syndrome with fetal chondrodysplasia PMID:10677296|PMID:14234962|PMID:15372529|PMID:15558753|PMID:15922184|PMID:17576681|PMID:21204229|PMID:22938506|PMID:23967202|PMID:24033266|PMID:25240749|PMID:25633957|PMID:25741868|PMID:26467025|PMID:26691295|PMID:26969326|PMID:27068579|PMID:28492532|PMID:28692176|PMID:30311386|PMID:33297549|PMID:33348901|PMID:7833911|PMID:7859284|PMID:9506662|PMID:9536098|PMID:9805126 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:0110509 autosomal recessive nonsyndromic deafness 53 ISO RGD:1350403 D RGD:7240710 20180130 OMIM 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:0110509 autosomal recessive nonsyndromic deafness 53 ISO RGD:1350403 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 53 PMID:10677296|PMID:15558753|PMID:16033917|PMID:21204229|PMID:22246659|PMID:23967202|PMID:24033266|PMID:25633957|PMID:25741868|PMID:26445815|PMID:28492532|PMID:29456477|PMID:30311386|PMID:31299979|PMID:31680349|PMID:33111345 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:0110545 autosomal dominant nonsyndromic deafness 13 ISO RGD:1350403 D RGD:7240710 20180130 OMIM 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:0110545 autosomal dominant nonsyndromic deafness 13 ISO RGD:1350403 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 13 PMID:10581026|PMID:10677296|PMID:15372529|PMID:15558753|PMID:21204229|PMID:23967202|PMID:24033266|PMID:25633957|PMID:25741868|PMID:26969326|PMID:28492532|PMID:35802133|PMID:36633841 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:0110914 infantile hypophosphatasia ISO RGD:1350403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile hypophosphatasia PMID:28492532 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:10003 sensorineural hearing loss ISO RGD:1350403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:1059 intellectual disability ISO RGD:1350403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:1222 cartilage disease ISO RGD:1350403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11668593 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:14250 Down syndrome ISO RGD:1350403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complete trisomy 21 syndrome PMID:28492532|PMID:30311386 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:1682 congenital heart disease ISO RGD:1350403 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:10677296|PMID:21204229|PMID:22246659|PMID:24033266|PMID:25741868|PMID:26445815|PMID:28492532|PMID:29456477|PMID:31299979|PMID:31680349|PMID:33111345 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:2256 osteochondrodysplasia susceptibility ISO RGD:1350403 D RGD:9068941 20200609 RGD otospondylomegaepiphyseal dysplasia, OMIM:215150;DNA:mutations PMID:10677296|REF_RGD_ID:1600883 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:3081 cystic lymphangioma ISO RGD:1350403 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cystic hygroma PMID:10677296|PMID:21204229|PMID:22246659|PMID:24033266|PMID:25741868|PMID:26445815|PMID:28492532|PMID:29456477|PMID:31299979|PMID:31680349|PMID:33111345 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1350403 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: WEISSENBACHER-ZWEYMULLER SYNDROME | ClinVar Annotator: match by term: Weissenbacher-Zweymuller syndrome PMID:10677296|PMID:15372529|PMID:15558753|PMID:23967202|PMID:24033266|PMID:25633957|PMID:25741868|PMID:28492532 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1350403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: WEISSENBACHER-ZWEYMULLER SYNDROME | ClinVar Annotator: match by term: Weissenbacher-Zweymuller syndrome PMID:10677296|PMID:15372529|PMID:15558753|PMID:21204229|PMID:23967202|PMID:24033266|PMID:25633957|PMID:25741868|PMID:26969326|PMID:28492532 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:630 genetic disease ISO RGD:1350403 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:65 connective tissue disease ISO RGD:1350403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:15922184|PMID:24033266|PMID:25240749|PMID:25633957|PMID:25741868|PMID:26691295|PMID:28492532|PMID:30311386 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:65 connective tissue disease ISO RGD:1350403 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:15922184|PMID:23967202|PMID:24033266|PMID:25240749|PMID:25633957|PMID:25741868|PMID:26467025|PMID:26691295|PMID:27068579|PMID:28492532|PMID:28692176|PMID:30311386 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:674 cleft palate ISO RGD:1350403 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :multiple PMID:20672350|REF_RGD_ID:12436724 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:674 cleft palate ISO RGD:1350403 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :rs3129208 (human) PMID:22112025|REF_RGD_ID:12904711 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:8501 fundus dystrophy ISO RGD:1350403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:9003816 Macrocephaly ISO RGD:1350403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:24033266|PMID:28492532 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:9004538 Hearing Loss ISO RGD:1350403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:16033917|PMID:24033266|PMID:25633957|PMID:25741868|PMID:28492532|PMID:30311386|PMID:33229591 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:9006294 Congenital Limb Deformities ISO RGD:1350403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16637051 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:9007661 Dwarfism ISO RGD:12245456 D RGD:9068941 20210604 OMIA Skeletal dysplasia 2, COL11A2-related PMID:23527306 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1350403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:24033266|PMID:28492532 11745321 COL11A2 collagen type XI alpha 2 chain gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1350403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16637051 11745400 TDRD9 tudor domain containing 9 gene DOID:0080600 COVID-19 ISO RGD:1315843 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11745400 TDRD9 tudor domain containing 9 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1315843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11745400 TDRD9 tudor domain containing 9 gene DOID:0111913 spermatogenic failure 30 ISO RGD:1315843 D RGD:7240710 20190410 OMIM 11745400 TDRD9 tudor domain containing 9 gene DOID:0111913 spermatogenic failure 30 ISO RGD:1315843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 30 PMID:25741868 11745400 TDRD9 tudor domain containing 9 gene DOID:14227 azoospermia ISO RGD:1315843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 11745400 TDRD9 tudor domain containing 9 gene DOID:630 genetic disease ISO RGD:1315843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11745439 ETV3L ETS variant transcription factor 3 like gene DOID:1540 parathyroid carcinoma ISO RGD:1603450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11745439 ETV3L ETS variant transcription factor 3 like gene DOID:630 genetic disease ISO RGD:1603450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11745439 ETV3L ETS variant transcription factor 3 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:0050117 disease by infectious agent ISO RGD:1353417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Recurrent infections PMID:17080092|PMID:21119115|PMID:25666262|PMID:25741868|PMID:27747465|PMID:28492532|PMID:28936583 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1353417 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:0060704 lymphoproliferative syndrome ISO RGD:1353417 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Duncan disease | ClinVar Annotator: match by term: Lymphoproliferative disorder PMID:25741868|PMID:28492532 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:0060705 X-linked lymphoproliferative syndrome 1 ISO RGD:1353417 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked PMID:25741868|PMID:28492532 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:0060706 X-linked lymphoproliferative syndrome 2 ISO RGD:1353417 D RGD:7240710 20180130 OMIM 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:0060706 X-linked lymphoproliferative syndrome 2 ISO RGD:1353417 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked PMID:1543760|PMID:16199547|PMID:17080092|PMID:17576681|PMID:17989220|PMID:18068526|PMID:20015872|PMID:20517649|PMID:21119115|PMID:21173700|PMID:21281876|PMID:21543760|PMID:21674762|PMID:22228567|PMID:23131490|PMID:23818254|PMID:23944711|PMID:23973892|PMID:24033266|PMID:24084330|PMID:24616127|PMID:25640679|PMID:25666262|PMID:25741868|PMID:25801017|PMID:25943627|PMID:26581487|PMID:27317434|PMID:27537055|PMID:27747465|PMID:27815752|PMID:28492532|PMID:28936583|PMID:29312354|PMID:29501442|PMID:29665027|PMID:30755392|PMID:32542393|PMID:9536098 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1353417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:25741868 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:10283 prostate cancer ISO RGD:1353417 D RGD:9068941 20200609 RGD PMID:19415464|REF_RGD_ID:2315849 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:10283 prostate cancer disease_progression ISO RGD:1353417 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:17947468|REF_RGD_ID:2315852 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:12849 autistic disorder ISO RGD:1353417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:1612 breast cancer ISO RGD:1353417 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:19563669|REF_RGD_ID:2315848 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1353417 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:20517649|PMID:21119115|PMID:23944711|PMID:24033266|PMID:24616127|PMID:25741868|PMID:27537055|PMID:28492532 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:3007 breast ductal carcinoma severity ISO RGD:1353417 D RGD:9068941 20200609 RGD PMID:17350670|REF_RGD_ID:2315853 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:3459 breast carcinoma exacerbates ISO RGD:1353417 D RGD:9068941 20220818 RGD mRNA:increased expression:breast (human) PMID:31964418|REF_RGD_ID:153344516 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:1353417 D RGD:9068941 20220818 RGD mRNA:increased expression:stomach (human) PMID:31964418|REF_RGD_ID:153344516 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:3948 adrenocortical carcinoma ameliorates ISO RGD:1353417 D RGD:9068941 20220818 RGD mRNA:increased expression:adrenal gland (human) PMID:31964418|REF_RGD_ID:153344516 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1353417 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17332931|REF_RGD_ID:2315854 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:4465 papillary renal cell carcinoma exacerbates ISO RGD:1353417 D RGD:9068941 20220818 RGD mRNA:increased expression:kidney (human) PMID:31964418|REF_RGD_ID:153344516 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:4467 clear cell renal cell carcinoma ameliorates ISO RGD:1353417 D RGD:9068941 20220818 RGD mRNA:increased expression:kidney (human) PMID:31964418|REF_RGD_ID:153344516 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:630 genetic disease ISO RGD:1353417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:7474 malignant pleural mesothelioma ameliorates ISO RGD:1353417 D RGD:9068941 20220825 RGD mRNA:increased expression:pleura, lung (human) PMID:17253596|REF_RGD_ID:153344528 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1353417 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:18325467|REF_RGD_ID:2315850 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:9000117 Esophageal Neoplasms ISO RGD:1353417 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17611394 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:9002304 Prostatic Neoplasms severity ISO RGD:731857 D RGD:9068941 20200609 RGD PMID:18259199|REF_RGD_ID:2315851 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:9002762 Ovarian Neoplasms ISO RGD:1353417 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21442130 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:9002762 Ovarian Neoplasms ISO RGD:1353417 D RGD:9068941 20200609 RGD PMID:19758744|REF_RGD_ID:2315847 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:9003373 Uterine Cervical Neoplasms severity ISO RGD:1353417 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:18325467|REF_RGD_ID:2315850 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:9003566 Mesothelioma ameliorates ISO RGD:1353417 D RGD:9068941 20220818 RGD mRNA:increased expression:mesothelium (human) PMID:31964418|REF_RGD_ID:153344516 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:9003937 X Chromosome, Trisomy Xq25 ISO RGD:1353417 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Xq25 duplication syndrome 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:9004484 Sepsis ISO RGD:1353417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sepsis PMID:17080092|PMID:21119115|PMID:25666262|PMID:25741868|PMID:27747465|PMID:28492532|PMID:28936583 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1353417 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12766084 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1353417 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14998631 11745448 XIAP X-linked inhibitor of apoptosis gene DOID:9256 colorectal cancer ISO RGD:1353417 D RGD:9068941 20220825 RGD mRNA, protein:increased expression:colonic mucosa (human) PMID:27827395|REF_RGD_ID:153344527 11745471 DSG1 desmoglein 1 gene DOID:0014667 disease of metabolism ISO RGD:1320531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23974871 11745471 DSG1 desmoglein 1 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1320531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis PMID:28492532 11745471 DSG1 desmoglein 1 gene DOID:0081108 keratosis palmoplantaris striata 1 ISO RGD:1320531 D RGD:7240710 20180130 OMIM 11745471 DSG1 desmoglein 1 gene DOID:0081108 keratosis palmoplantaris striata 1 ISO RGD:1320531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keratoderma, palmoplantar striate form 1 | ClinVar Annotator: match by term: Palmoplantar keratoderma i, striate, focal, or diffuse PMID:10332028|PMID:11313759|PMID:15897387|PMID:16484817|PMID:19018793|PMID:19157795|PMID:19558595|PMID:23974871|PMID:24033266|PMID:25741868|PMID:27534273|PMID:28492532|PMID:31443639|PMID:7544663 11745471 DSG1 desmoglein 1 gene DOID:0111505 palmoplantar keratoderma-deafness syndrome ISO RGD:1320531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary palmoplantar keratoderma PMID:25741868 11745471 DSG1 desmoglein 1 gene DOID:1059 intellectual disability ISO RGD:1320531 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11745471 DSG1 desmoglein 1 gene DOID:1205 allergic disease ISO RGD:1320531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23974871 11745471 DSG1 desmoglein 1 gene DOID:2723 dermatitis ISO RGD:1320531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23974871 11745471 DSG1 desmoglein 1 gene DOID:630 genetic disease ISO RGD:1320531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11745471 DSG1 desmoglein 1 gene DOID:9001004 Chronic Periodontitis ISO RGD:1320531 D RGD:9068941 20200609 RGD mRNA:decreased expression:gingival tissues PMID:21382035|REF_RGD_ID:6480655 11745471 DSG1 desmoglein 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1309925 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:19500802|REF_RGD_ID:2316254 11745471 DSG1 desmoglein 1 gene DOID:9007380 Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE ISO RGD:1320531 D RGD:7240710 20180130 OMIM 11745471 DSG1 desmoglein 1 gene DOID:9007380 Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE ISO RGD:1320531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | ClinVar Annotator: match by term: SAM SYNDROME PMID:23974871|PMID:24033266|PMID:25741868|PMID:28492532 11745490 TBCC tubulin folding cofactor C gene DOID:0050444 infantile Refsum disease ISO RGD:1315555 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11745490 TBCC tubulin folding cofactor C gene DOID:630 genetic disease ISO RGD:1315555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11745490 TBCC tubulin folding cofactor C gene DOID:905 Zellweger syndrome ISO RGD:1315555 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11745495 TOR1AIP1 torsin 1A interacting protein 1 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1607052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 11745495 TOR1AIP1 torsin 1A interacting protein 1 gene DOID:0110289 autosomal recessive limb-girdle muscular dystrophy type 2Y ISO RGD:1607052 D RGD:7240710 20190315 OMIM 11745495 TOR1AIP1 torsin 1A interacting protein 1 gene DOID:0110289 autosomal recessive limb-girdle muscular dystrophy type 2Y ISO RGD:1607052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Y PMID:16199547|PMID:17576681|PMID:24856141|PMID:25193337|PMID:25741868|PMID:26436962|PMID:27342937|PMID:28492532|PMID:32055997|PMID:32190976|PMID:4856141|PMID:9536098 11745495 TOR1AIP1 torsin 1A interacting protein 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1607052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11745495 TOR1AIP1 torsin 1A interacting protein 1 gene DOID:630 genetic disease ISO RGD:1607052 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11745495 TOR1AIP1 torsin 1A interacting protein 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1607052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11745495 TOR1AIP1 torsin 1A interacting protein 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11745545 QTRT2 queuine tRNA-ribosyltransferase accessory subunit 2 gene DOID:630 genetic disease ISO RGD:1320734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11745563 FERMT2 FERM domain containing kindlin 2 gene DOID:11054 urinary bladder cancer ISO RGD:1323441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21624607 11745563 FERMT2 FERM domain containing kindlin 2 gene DOID:13550 angle-closure glaucoma ISO RGD:1323441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27064256 11745563 FERMT2 FERM domain containing kindlin 2 gene DOID:630 genetic disease ISO RGD:1323441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11745563 FERMT2 FERM domain containing kindlin 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1323441 D RGD:9068941 20200609 RGD PMID:22391155|REF_RGD_ID:11352307 11745584 SLC26A9 solute carrier family 26 member 9 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1321344 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11745584 SLC26A9 solute carrier family 26 member 9 gene DOID:12849 autistic disorder ISO RGD:1321344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11745584 SLC26A9 solute carrier family 26 member 9 gene DOID:1485 cystic fibrosis ISO RGD:1321344 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22466613 11745584 SLC26A9 solute carrier family 26 member 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1321344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11745584 SLC26A9 solute carrier family 26 member 9 gene DOID:630 genetic disease ISO RGD:1321344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11745584 SLC26A9 solute carrier family 26 member 9 gene DOID:8437 intestinal obstruction ISO RGD:1321344 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22466613 11745584 SLC26A9 solute carrier family 26 member 9 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1321344 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11745584 SLC26A9 solute carrier family 26 member 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11745610 SRP9 signal recognition particle 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1348001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11745610 SRP9 signal recognition particle 9 gene DOID:630 genetic disease ISO RGD:1348001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11745610 SRP9 signal recognition particle 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11745621 TCP1 t-complex 1 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:732136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 11745621 TCP1 t-complex 1 gene DOID:630 genetic disease ISO RGD:732136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11745621 TCP1 t-complex 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732136 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 11745640 VEGFA vascular endothelial growth factor A gene DOID:0001816 angiosarcoma ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 11745640 VEGFA vascular endothelial growth factor A gene DOID:0002116 pterygium ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:conjunctiva: PMID:15885787|REF_RGD_ID:8549762 11745640 VEGFA vascular endothelial growth factor A gene DOID:0050185 erythema multiforme ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:7738351|REF_RGD_ID:7421578 11745640 VEGFA vascular endothelial growth factor A gene DOID:0050444 infantile Refsum disease ISO RGD:731072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11745640 VEGFA vascular endothelial growth factor A gene DOID:0050589 inflammatory bowel disease disease_progression ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:serum,colon: PMID:23642997|REF_RGD_ID:11079180 11745640 VEGFA vascular endothelial growth factor A gene DOID:0050700 cardiomyopathy ISO RGD:731073 D RGD:9068941 20200609 RGD PMID:10229225|REF_RGD_ID:1580578 11745640 VEGFA vascular endothelial growth factor A gene DOID:0050852 limb ischemia treatment ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:23562340|REF_RGD_ID:7421600 11745640 VEGFA vascular endothelial growth factor A gene DOID:0050866 oral squamous cell carcinoma ISO RGD:731072 D RGD:9068941 20220811 RGD protein:increased expression:oral mucosa (human) PMID:26044849|REF_RGD_ID:153323290 11745640 VEGFA vascular endothelial growth factor A gene DOID:0060071 pre-malignant neoplasm ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12399228 11745640 VEGFA vascular endothelial growth factor A gene DOID:0060074 ductal carcinoma in situ ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:19623180|REF_RGD_ID:2315458 11745640 VEGFA vascular endothelial growth factor A gene DOID:0060108 brain glioma ISO RGD:731072 D RGD:9068941 20220310 RGD protein:increased expression:brain (human) PMID:33900414|REF_RGD_ID:151660356 11745640 VEGFA vascular endothelial growth factor A gene DOID:0060181 ischemic colitis ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:15770733|REF_RGD_ID:1580570 11745640 VEGFA vascular endothelial growth factor A gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:731073 D RGD:9068941 20220825 MouseDO OMIM:105400 11745640 VEGFA vascular endothelial growth factor A gene DOID:0060224 atrial fibrillation ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:heart: PMID:20631454|REF_RGD_ID:8551825 11745640 VEGFA vascular endothelial growth factor A gene DOID:0060496 respiratory allergy ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30608172 11745640 VEGFA vascular endothelial growth factor A gene DOID:0060643 primary sclerosing cholangitis ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:26615570|REF_RGD_ID:11538286 11745640 VEGFA vascular endothelial growth factor A gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:16388189|REF_RGD_ID:1580567 11745640 VEGFA vascular endothelial growth factor A gene DOID:0080600 COVID-19 severity ISO RGD:731072 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 11745640 VEGFA vascular endothelial growth factor A gene DOID:0081267 graft-versus-host disease ISO RGD:731072 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:25759146|REF_RGD_ID:11079181 11745640 VEGFA vascular endothelial growth factor A gene DOID:0111252 neurofibromatosis 2 ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:19587327|REF_RGD_ID:8547957 11745640 VEGFA vascular endothelial growth factor A gene DOID:0111252 neurofibromatosis 2 ISO RGD:731073 D RGD:9068941 20200609 RGD PMID:20406973|REF_RGD_ID:8547955 11745640 VEGFA vascular endothelial growth factor A gene DOID:0111253 neurofibromatosis 1 ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:dermis PMID:12930297|REF_RGD_ID:8547970 11745640 VEGFA vascular endothelial growth factor A gene DOID:10283 prostate cancer ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:19576799|REF_RGD_ID:2315459 11745640 VEGFA vascular endothelial growth factor A gene DOID:10584 retinitis pigmentosa ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:eye: PMID:18326689|REF_RGD_ID:7483592 11745640 VEGFA vascular endothelial growth factor A gene DOID:10591 pre-eclampsia ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:16517614|REF_RGD_ID:1580566 11745640 VEGFA vascular endothelial growth factor A gene DOID:10591 pre-eclampsia ISO RGD:731072 D RGD:9068941 20221103 RGD mRNA:decreased expression:chorionic villus (human) PMID:22840297|REF_RGD_ID:155631283 11745640 VEGFA vascular endothelial growth factor A gene DOID:10652 Alzheimer's disease ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15732116 11745640 VEGFA vascular endothelial growth factor A gene DOID:10652 Alzheimer's disease ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:15732116|REF_RGD_ID:1580571 11745640 VEGFA vascular endothelial growth factor A gene DOID:10754 otitis media ISO RGD:731073 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:middle ear,inner ear: PMID:21271590|REF_RGD_ID:8547980 11745640 VEGFA vascular endothelial growth factor A gene DOID:10754 otitis media ISO RGD:731073 D RGD:9068941 20200609 RGD mRNA:increased expression:middle ear: PMID:22104377|REF_RGD_ID:8547975 11745640 VEGFA vascular endothelial growth factor A gene DOID:10762 portal hypertension ISO RGD:619991 D RGD:9068941 20200609 RGD protein:increased expression:mesentary PMID:26627607|REF_RGD_ID:11528851 11745640 VEGFA vascular endothelial growth factor A gene DOID:10762 portal hypertension ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18416461 11745640 VEGFA vascular endothelial growth factor A gene DOID:10763 hypertension ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:16164572|REF_RGD_ID:1580573 11745640 VEGFA vascular endothelial growth factor A gene DOID:10763 hypertension treatment ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:20630084|REF_RGD_ID:8552374 11745640 VEGFA vascular endothelial growth factor A gene DOID:10808 gastric ulcer ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11353854 11745640 VEGFA vascular endothelial growth factor A gene DOID:10873 Kuhnt-Junius degeneration treatment ISO RGD:731072 D RGD:9068941 20200609 RGD DNA:SNP: :rs3025000(human) PMID:23149126|REF_RGD_ID:7483627 11745640 VEGFA vascular endothelial growth factor A gene DOID:10873 Kuhnt-Junius degeneration treatment ISO RGD:731072 D RGD:9068941 20200609 RGD DNA:SNP: :rs943080(human) PMID:23745581|REF_RGD_ID:7483607 11745640 VEGFA vascular endothelial growth factor A gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:15178644|REF_RGD_ID:1580558 11745640 VEGFA vascular endothelial growth factor A gene DOID:10941 intracranial aneurysm ISO RGD:731072 D RGD:9068941 20230202 RGD mRNA,protein:increased expression:artery PMID:32602008|REF_RGD_ID:155882593 11745640 VEGFA vascular endothelial growth factor A gene DOID:10964 cholesteatoma of middle ear ISO RGD:731072 D RGD:9068941 20200609 RGD protein:altered expression:mucosa of the middle ear: PMID:11078065|REF_RGD_ID:8547968 11745640 VEGFA vascular endothelial growth factor A gene DOID:11054 urinary bladder cancer ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA:increased expression:bladder PMID:22895562|REF_RGD_ID:13605607 11745640 VEGFA vascular endothelial growth factor A gene DOID:11198 DiGeorge syndrome ISO RGD:731073 D RGD:9068941 20220825 MouseDO OMIM:188400 11745640 VEGFA vascular endothelial growth factor A gene DOID:11382 corneal neovascularization ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9301478 11745640 VEGFA vascular endothelial growth factor A gene DOID:11382 corneal neovascularization ISO RGD:731073 D RGD:9068941 20200609 RGD PMID:22467572|REF_RGD_ID:7483619 11745640 VEGFA vascular endothelial growth factor A gene DOID:11382 corneal neovascularization ISO RGD:731073 D RGD:9068941 20200609 RGD associated with Herpes Simplex;protein:increased expression:cornea: PMID:21325621|REF_RGD_ID:8547993 11745640 VEGFA vascular endothelial growth factor A gene DOID:11396 pulmonary edema ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:16793871|REF_RGD_ID:1580547 11745640 VEGFA vascular endothelial growth factor A gene DOID:114 heart disease ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 11745640 VEGFA vascular endothelial growth factor A gene DOID:11612 polycystic ovary syndrome ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:15653207|REF_RGD_ID:8549491 11745640 VEGFA vascular endothelial growth factor A gene DOID:11713 diabetic angiopathy ISO RGD:731072 D RGD:7240710 20190410 OMIM 11745640 VEGFA vascular endothelial growth factor A gene DOID:11713 diabetic angiopathy ISO RGD:731072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 1 PMID:11978667 11745640 VEGFA vascular endothelial growth factor A gene DOID:12236 primary biliary cholangitis ISO RGD:619991 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:26627607|REF_RGD_ID:11528851 11745640 VEGFA vascular endothelial growth factor A gene DOID:12236 primary biliary cholangitis ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:26615570|REF_RGD_ID:11538286 11745640 VEGFA vascular endothelial growth factor A gene DOID:12361 Graves' disease ISO RGD:731072 D RGD:9068941 20200609 RGD DNA:SNPs: :-2578A>C,-460T>C,405G>C(human) PMID:22771446|REF_RGD_ID:7483621 11745640 VEGFA vascular endothelial growth factor A gene DOID:12510 retinal ischemia treatment ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:23537149|REF_RGD_ID:10755711 11745640 VEGFA vascular endothelial growth factor A gene DOID:12689 acoustic neuroma ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:14660915|REF_RGD_ID:8547959 11745640 VEGFA vascular endothelial growth factor A gene DOID:12716 newborn respiratory distress syndrome ISO RGD:731073 D RGD:9068941 20220825 MouseDO OMIM:267450 11745640 VEGFA vascular endothelial growth factor A gene DOID:13025 retinopathy of prematurity ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:subretinal fluid: PMID:10751359|REF_RGD_ID:8548546 11745640 VEGFA vascular endothelial growth factor A gene DOID:13207 proliferative diabetic retinopathy ISO RGD:619991 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; protein:increased expression:retina PMID:16054135|REF_RGD_ID:2312348 11745640 VEGFA vascular endothelial growth factor A gene DOID:13241 Behcet's disease ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15257411|REF_RGD_ID:8655578 11745640 VEGFA vascular endothelial growth factor A gene DOID:13378 Kawasaki disease ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:15470196|REF_RGD_ID:1580572 11745640 VEGFA vascular endothelial growth factor A gene DOID:13812 adhesions of uterus ISO RGD:619991 D RGD:9068941 20210514 RGD mRNA, protein:increased expression:endometrium PMID:31596310|REF_RGD_ID:126925216 11745640 VEGFA vascular endothelial growth factor A gene DOID:14256 adult-onset Still's disease ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:24387171|REF_RGD_ID:8548659 11745640 VEGFA vascular endothelial growth factor A gene DOID:1432 blindness ISO RGD:731073 D RGD:9068941 20200609 RGD PMID:23093773|REF_RGD_ID:11075234 11745640 VEGFA vascular endothelial growth factor A gene DOID:14566 disease of cellular proliferation ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18494554 11745640 VEGFA vascular endothelial growth factor A gene DOID:1520 colon carcinoma treatment ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:18657413|REF_RGD_ID:15003195 11745640 VEGFA vascular endothelial growth factor A gene DOID:1584 acute chest syndrome susceptibility ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:SNPs: : rs2010963, rs833068,rs3025020(human) PMID:22925497|REF_RGD_ID:11075235 11745640 VEGFA vascular endothelial growth factor A gene DOID:1584 acute chest syndrome susceptibility ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:polymorphism:583C > T (human) PMID:25130874|REF_RGD_ID:11075233 11745640 VEGFA vascular endothelial growth factor A gene DOID:1682 congenital heart disease ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26073000 11745640 VEGFA vascular endothelial growth factor A gene DOID:1682 congenital heart disease ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:16636650|REF_RGD_ID:1580565 11745640 VEGFA vascular endothelial growth factor A gene DOID:1686 glaucoma ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:23416159|REF_RGD_ID:7421614 11745640 VEGFA vascular endothelial growth factor A gene DOID:1686 glaucoma ISO RGD:619991 D RGD:9068941 20200609 RGD protein:increased expression:retina: PMID:18728749|REF_RGD_ID:7421595 11745640 VEGFA vascular endothelial growth factor A gene DOID:1687 neovascular glaucoma ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, type 2; protein:increased expression:aqueous humor of eyeball: PMID:9852717|REF_RGD_ID:8547996 11745640 VEGFA vascular endothelial growth factor A gene DOID:1724 duodenal ulcer ISO RGD:619991 D RGD:9068941 20200609 RGD associated with Candidiasis;protein:decreased expression:Duodenum: PMID:18622701|REF_RGD_ID:7483560 11745640 VEGFA vascular endothelial growth factor A gene DOID:1727 retinal vein occlusion ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:21487926|REF_RGD_ID:5490120 11745640 VEGFA vascular endothelial growth factor A gene DOID:1727 retinal vein occlusion ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16680105 11745640 VEGFA vascular endothelial growth factor A gene DOID:1749 squamous cell carcinoma ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15956251|PMID:26432044 11745640 VEGFA vascular endothelial growth factor A gene DOID:1824 status epilepticus ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17533168 11745640 VEGFA vascular endothelial growth factor A gene DOID:1875 impotence ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12002441 11745640 VEGFA vascular endothelial growth factor A gene DOID:1909 melanoma disease_progression ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:12946796|REF_RGD_ID:7421569 11745640 VEGFA vascular endothelial growth factor A gene DOID:1936 atherosclerosis ISO RGD:731072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atherosclerosis, susceptibility to PMID:15732116|PMID:15937083|PMID:18413368 11745640 VEGFA vascular endothelial growth factor A gene DOID:1936 atherosclerosis ameliorates ISO RGD:731073 D RGD:9068941 20230330 RGD PMID:31757932|REF_RGD_ID:242905202 11745640 VEGFA vascular endothelial growth factor A gene DOID:2048 autoimmune hepatitis ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:26615570|REF_RGD_ID:11538286 11745640 VEGFA vascular endothelial growth factor A gene DOID:219 colon cancer ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:21268133|REF_RGD_ID:5135051 11745640 VEGFA vascular endothelial growth factor A gene DOID:2256 osteochondrodysplasia ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24235232 11745640 VEGFA vascular endothelial growth factor A gene DOID:2596 larynx cancer treatment ISO RGD:731072 D RGD:9068941 20210514 RGD PMID:20967863|REF_RGD_ID:126925200 11745640 VEGFA vascular endothelial growth factor A gene DOID:2738 pseudoxanthoma elasticum susceptibility ISO RGD:731072 D RGD:9068941 20200609 RGD DNA:haplotype: : PMID:19483196|REF_RGD_ID:7483615 11745640 VEGFA vascular endothelial growth factor A gene DOID:2773 contact dermatitis ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11745640 VEGFA vascular endothelial growth factor A gene DOID:2841 asthma ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11907124|PMID:15201500|PMID:19263519 11745640 VEGFA vascular endothelial growth factor A gene DOID:2841 asthma ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:19178538|REF_RGD_ID:6892723 11745640 VEGFA vascular endothelial growth factor A gene DOID:289 endometriosis ISO RGD:619991 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:20056215|REF_RGD_ID:5135061 11745640 VEGFA vascular endothelial growth factor A gene DOID:2921 glomerulonephritis treatment ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:15195119|REF_RGD_ID:7421594 11745640 VEGFA vascular endothelial growth factor A gene DOID:299 adenocarcinoma ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 11745640 VEGFA vascular endothelial growth factor A gene DOID:2999 granulosa cell tumor ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:19524286|REF_RGD_ID:2315463 11745640 VEGFA vascular endothelial growth factor A gene DOID:3021 acute kidney failure ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20943766|PMID:22808199 11745640 VEGFA vascular endothelial growth factor A gene DOID:3042 allergic contact dermatitis ISO RGD:619991 D RGD:9068941 20200609 RGD mRNA:protein:skin: PMID:7876550|REF_RGD_ID:7421586 11745640 VEGFA vascular endothelial growth factor A gene DOID:3042 allergic contact dermatitis ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA:protein:skin: PMID:7876550|REF_RGD_ID:7421586 11745640 VEGFA vascular endothelial growth factor A gene DOID:3068 glioblastoma ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16356833 11745640 VEGFA vascular endothelial growth factor A gene DOID:3071 gliosarcoma ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16533777 11745640 VEGFA vascular endothelial growth factor A gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15681497|REF_RGD_ID:5684420 11745640 VEGFA vascular endothelial growth factor A gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:20705587|REF_RGD_ID:10755705 11745640 VEGFA vascular endothelial growth factor A gene DOID:3087 gingivitis ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;protein:decreased expression:gingiva: PMID:18206400|REF_RGD_ID:7421591 11745640 VEGFA vascular endothelial growth factor A gene DOID:3179 inverted papilloma ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:inferior nasal concha: PMID:12541477|REF_RGD_ID:8551779 11745640 VEGFA vascular endothelial growth factor A gene DOID:3247 rhabdomyosarcoma ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16116481 11745640 VEGFA vascular endothelial growth factor A gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:16410746|REF_RGD_ID:1580568 11745640 VEGFA vascular endothelial growth factor A gene DOID:3328 temporal lobe epilepsy ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17533168 11745640 VEGFA vascular endothelial growth factor A gene DOID:3347 osteosarcoma ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20158913 11745640 VEGFA vascular endothelial growth factor A gene DOID:3393 coronary artery disease ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14668888|PMID:15937083 11745640 VEGFA vascular endothelial growth factor A gene DOID:3393 coronary artery disease ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:15754021|REF_RGD_ID:1580569 11745640 VEGFA vascular endothelial growth factor A gene DOID:3512 neurofibrosarcoma ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:peripheral nerve PMID:10554031|REF_RGD_ID:8552377 11745640 VEGFA vascular endothelial growth factor A gene DOID:3525 middle cerebral artery infarction ISO RGD:619991 D RGD:9068941 20230504 RGD mRNA,protein:increased expression:cerebral cortex (rat) PMID:27035554|REF_RGD_ID:329337377 11745640 VEGFA vascular endothelial growth factor A gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:619991 D RGD:9068941 20210122 RGD PMID:29497380|REF_RGD_ID:40925919 11745640 VEGFA vascular endothelial growth factor A gene DOID:3587 pancreatic ductal carcinoma ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17481528 11745640 VEGFA vascular endothelial growth factor A gene DOID:3827 congenital diaphragmatic hernia ISO RGD:619991 D RGD:9068941 20200609 RGD protein:decreased expression:lung: PMID:15879288|REF_RGD_ID:7421593 11745640 VEGFA vascular endothelial growth factor A gene DOID:3908 lung non-small cell carcinoma ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15956251 11745640 VEGFA vascular endothelial growth factor A gene DOID:3908 lung non-small cell carcinoma ISO RGD:731072 D RGD:9068941 20210514 RGD protein:increased expression:plasma PMID:21481963|REF_RGD_ID:126925199 11745640 VEGFA vascular endothelial growth factor A gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:731072 D RGD:9068941 20220428 RGD protein:inctreased expression:lung (human) PMID:22977534|REF_RGD_ID:152023747 11745640 VEGFA vascular endothelial growth factor A gene DOID:418 systemic scleroderma ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:skin: PMID:21636803|REF_RGD_ID:7421579 11745640 VEGFA vascular endothelial growth factor A gene DOID:418 systemic scleroderma ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow: PMID:22271757|REF_RGD_ID:8551843 11745640 VEGFA vascular endothelial growth factor A gene DOID:418 systemic scleroderma ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:24387171|REF_RGD_ID:8548659 11745640 VEGFA vascular endothelial growth factor A gene DOID:418 systemic scleroderma ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:16426919|REF_RGD_ID:5684416 11745640 VEGFA vascular endothelial growth factor A gene DOID:4440 seminoma disease_progression ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:19288744|REF_RGD_ID:2315467 11745640 VEGFA vascular endothelial growth factor A gene DOID:4448 macular degeneration ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15788408 11745640 VEGFA vascular endothelial growth factor A gene DOID:4449 macular retinal edema ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20577866 11745640 VEGFA vascular endothelial growth factor A gene DOID:4449 macular retinal edema ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;protein:increased expression:aqueous humor PMID:17505145|REF_RGD_ID:8655594 11745640 VEGFA vascular endothelial growth factor A gene DOID:4449 macular retinal edema ISO RGD:731072 D RGD:9068941 20200609 RGD associated with retinal vein occlusion;protein:increased expression:vitreous humor PMID:23411880|REF_RGD_ID:8549772 11745640 VEGFA vascular endothelial growth factor A gene DOID:4449 macular retinal edema ISO RGD:731072 D RGD:9068941 20221014 RGD associated with central retinal vein occlusion;protein:increased expression:aqueous humor of eyeball (human) PMID:35799735|REF_RGD_ID:155582223 11745640 VEGFA vascular endothelial growth factor A gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:19755989|REF_RGD_ID:2315455 11745640 VEGFA vascular endothelial growth factor A gene DOID:4467 clear cell renal cell carcinoma ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25239121 11745640 VEGFA vascular endothelial growth factor A gene DOID:4483 rhinitis ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:19178538|REF_RGD_ID:6892723 11745640 VEGFA vascular endothelial growth factor A gene DOID:4724 brain edema ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:15879344|REF_RGD_ID:1580557 11745640 VEGFA vascular endothelial growth factor A gene DOID:4724 brain edema ISO RGD:619991 D RGD:9068941 20200609 RGD associated with Anoxia PMID:21560328|REF_RGD_ID:5148033 11745640 VEGFA vascular endothelial growth factor A gene DOID:5082 liver cirrhosis ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11981751 11745640 VEGFA vascular endothelial growth factor A gene DOID:5082 liver cirrhosis ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic; protein:increased expression:liver PMID:26627607|REF_RGD_ID:11528851 11745640 VEGFA vascular endothelial growth factor A gene DOID:5082 liver cirrhosis ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:platelet: PMID:18544126|REF_RGD_ID:15003200 11745640 VEGFA vascular endothelial growth factor A gene DOID:5176 renal Wilms' tumor ISO RGD:731072 D RGD:9068941 20221103 RGD human tumor in mouse model PMID:18467665|REF_RGD_ID:155631277 11745640 VEGFA vascular endothelial growth factor A gene DOID:5425 ovarian hyperstimulation syndrome treatment ISO RGD:619991 D RGD:9068941 20210514 RGD PMID:25151950|REF_RGD_ID:126925217 11745640 VEGFA vascular endothelial growth factor A gene DOID:5679 retinal disease ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19324842 11745640 VEGFA vascular endothelial growth factor A gene DOID:576 proteinuria ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22808199 11745640 VEGFA vascular endothelial growth factor A gene DOID:5844 myocardial infarction ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:serum,platelet: PMID:10652191|REF_RGD_ID:7483604 11745640 VEGFA vascular endothelial growth factor A gene DOID:5844 myocardial infarction treatment ISO RGD:619991 D RGD:9068941 20210514 RGD PMID:25936512|REF_RGD_ID:126925214 11745640 VEGFA vascular endothelial growth factor A gene DOID:6000 congestive heart failure ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15732037|PMID:15880336 11745640 VEGFA vascular endothelial growth factor A gene DOID:6039 uveal melanoma ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:iris, ciliary body, vitreous body; PMID:11914216|REF_RGD_ID:7483591 11745640 VEGFA vascular endothelial growth factor A gene DOID:630 genetic disease ISO RGD:731072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11745640 VEGFA vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma ISO RGD:731072 D RGD:9068941 20200609 RGD associated with liver cirrhosis; protein:increased expression:platelet, liver: PMID:18544126|REF_RGD_ID:15003200 11745640 VEGFA vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:27338800|REF_RGD_ID:15003194 11745640 VEGFA vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:28147320|REF_RGD_ID:15003196 11745640 VEGFA vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:16835748|REF_RGD_ID:15014783 11745640 VEGFA vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:731072 D RGD:9068941 20210507 RGD DNA:SNP: :2578C>A (human) PMID:24445728|REF_RGD_ID:126848814 11745640 VEGFA vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma treatment ISO RGD:619991 D RGD:9068941 20220520 RGD PMID:25999787|REF_RGD_ID:152177911 11745640 VEGFA vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma treatment ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:26930285|REF_RGD_ID:11527070 11745640 VEGFA vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma treatment ISO RGD:731072 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-2578C>A (rs699947)(human) PMID:28147320|REF_RGD_ID:15003196 11745640 VEGFA vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma treatment ISO RGD:731073 D RGD:9068941 20200609 RGD associated with liver cirrhosis; PMID:18392108|REF_RGD_ID:15036790 11745640 VEGFA vascular endothelial growth factor A gene DOID:7148 rheumatoid arthritis ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16368150 11745640 VEGFA vascular endothelial growth factor A gene DOID:7148 rheumatoid arthritis disease_progression ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:24387171|REF_RGD_ID:8548659 11745640 VEGFA vascular endothelial growth factor A gene DOID:7736 retinal telangiectasia severity ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:eye: PMID:23221067|REF_RGD_ID:8549759 11745640 VEGFA vascular endothelial growth factor A gene DOID:841 extrinsic allergic alveolitis ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:15764076|REF_RGD_ID:5684419 11745640 VEGFA vascular endothelial growth factor A gene DOID:850 lung disease ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23618901 11745640 VEGFA vascular endothelial growth factor A gene DOID:8505 dermatitis herpetiformis ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:7738351|REF_RGD_ID:7421578 11745640 VEGFA vascular endothelial growth factor A gene DOID:8506 bullous pemphigoid ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:7738351|REF_RGD_ID:7421578 11745640 VEGFA vascular endothelial growth factor A gene DOID:8544 chronic fatigue syndrome ISO RGD:731072 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:26615570|REF_RGD_ID:11538286 11745640 VEGFA vascular endothelial growth factor A gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:731072 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :(rs6999470),(rs833061)(human) PMID:19141860|REF_RGD_ID:13432135 11745640 VEGFA vascular endothelial growth factor A gene DOID:8577 ulcerative colitis ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:colon, plasma PMID:19013462|REF_RGD_ID:5684406 11745640 VEGFA vascular endothelial growth factor A gene DOID:869 cholesteatoma ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:external acoustic meatus: PMID:15267172|REF_RGD_ID:8547969 11745640 VEGFA vascular endothelial growth factor A gene DOID:8692 myeloid leukemia ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21535412 11745640 VEGFA vascular endothelial growth factor A gene DOID:8717 decubitus ulcer ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:23740668|REF_RGD_ID:8655548 11745640 VEGFA vascular endothelial growth factor A gene DOID:8717 decubitus ulcer ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:12692851|REF_RGD_ID:8551845 11745640 VEGFA vascular endothelial growth factor A gene DOID:8778 Crohn's disease ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:colon, plasma PMID:19013462|REF_RGD_ID:5684406 11745640 VEGFA vascular endothelial growth factor A gene DOID:8893 psoriasis ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16385345 11745640 VEGFA vascular endothelial growth factor A gene DOID:8893 psoriasis ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA:increased expression:skin: PMID:8064230|REF_RGD_ID:7421592 11745640 VEGFA vascular endothelial growth factor A gene DOID:8893 psoriasis ISO RGD:731073 D RGD:9068941 20220825 MouseDO OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106 11745640 VEGFA vascular endothelial growth factor A gene DOID:8893 psoriasis disease_progression ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:20980160|REF_RGD_ID:8552359 11745640 VEGFA vascular endothelial growth factor A gene DOID:8893 psoriasis onset ISO RGD:731072 D RGD:9068941 20200609 RGD DNA:polymorphism: :405C>G(human) PMID:14962110|REF_RGD_ID:8552645 11745640 VEGFA vascular endothelial growth factor A gene DOID:8893 psoriasis treatment ISO RGD:731073 D RGD:9068941 20200609 RGD PMID:19995970|REF_RGD_ID:8549646 11745640 VEGFA vascular endothelial growth factor A gene DOID:8927 learning disability ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20801723 11745640 VEGFA vascular endothelial growth factor A gene DOID:8947 diabetic retinopathy ISO RGD:619991 D RGD:9068941 20210219 RGD mRNA, protein:increased expression:retina PMID:31759996|REF_RGD_ID:41410819 11745640 VEGFA vascular endothelial growth factor A gene DOID:8947 diabetic retinopathy ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11978667|PMID:15788408|PMID:20577866 11745640 VEGFA vascular endothelial growth factor A gene DOID:8947 diabetic retinopathy ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:16636650|PMID:17513698|REF_RGD_ID:1580565|REF_RGD_ID:2301992 11745640 VEGFA vascular endothelial growth factor A gene DOID:8947 diabetic retinopathy ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, type 2; protein:increased expression:aqueous humor of eyeball: PMID:9852717|REF_RGD_ID:8547996 11745640 VEGFA vascular endothelial growth factor A gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:19723043|REF_RGD_ID:2315456 11745640 VEGFA vascular endothelial growth factor A gene DOID:900 hepatopulmonary syndrome ISO RGD:619991 D RGD:9068941 20200609 RGD mRNA:increased expression:lung: PMID:27029414|REF_RGD_ID:15003201 11745640 VEGFA vascular endothelial growth factor A gene DOID:900 hepatopulmonary syndrome treatment ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:19109954|REF_RGD_ID:15036789 11745640 VEGFA vascular endothelial growth factor A gene DOID:9000039 Spinal Cord Injuries ISO RGD:619991 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:21092735|REF_RGD_ID:5148013 11745640 VEGFA vascular endothelial growth factor A gene DOID:9000039 Spinal Cord Injuries ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21092735 11745640 VEGFA vascular endothelial growth factor A gene DOID:9000081 Lymphatic Metastasis ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms PMID:19783962|REF_RGD_ID:2315454 11745640 VEGFA vascular endothelial growth factor A gene DOID:9000081 Lymphatic Metastasis ISO RGD:731073 D RGD:9068941 20200609 RGD associated with Breast neoplasms; PMID:17597103|REF_RGD_ID:7421574 11745640 VEGFA vascular endothelial growth factor A gene DOID:9000099 Experimental Colitis ISO RGD:731073 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:19013462|REF_RGD_ID:5684406 11745640 VEGFA vascular endothelial growth factor A gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22808199 11745640 VEGFA vascular endothelial growth factor A gene DOID:9000528 Coronary Disease ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ventricle myocardium PMID:16139132|REF_RGD_ID:2313728 11745640 VEGFA vascular endothelial growth factor A gene DOID:9000808 Hypercholesterolemia ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Carcinoma, Ductal, Breast PMID:15491965|REF_RGD_ID:8655598 11745640 VEGFA vascular endothelial growth factor A gene DOID:9000888 Pregnancy in Diabetics ISO RGD:619991 D RGD:9068941 20200609 RGD protein:decreased expression:plasma, placenta,embryo: PMID:19048427|REF_RGD_ID:7483562 11745640 VEGFA vascular endothelial growth factor A gene DOID:9000965 Neoplasm Metastasis ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15659795|PMID:18930813|PMID:20158913 11745640 VEGFA vascular endothelial growth factor A gene DOID:9000965 Neoplasm Metastasis ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell PMID:19064974|REF_RGD_ID:2315468 11745640 VEGFA vascular endothelial growth factor A gene DOID:9000998 Brain Injuries ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:12230324|REF_RGD_ID:1580574 11745640 VEGFA vascular endothelial growth factor A gene DOID:9000998 Brain Injuries ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18065154 11745640 VEGFA vascular endothelial growth factor A gene DOID:9001044 Choroidal Neovascularization ISO RGD:619991 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:choroidal tissue,retina: PMID:19013152|REF_RGD_ID:8548599 11745640 VEGFA vascular endothelial growth factor A gene DOID:9001044 Choroidal Neovascularization ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16680105 11745640 VEGFA vascular endothelial growth factor A gene DOID:9001044 Choroidal Neovascularization ISO RGD:731073 D RGD:9068941 20200609 RGD PMID:16723717|REF_RGD_ID:8548459 11745640 VEGFA vascular endothelial growth factor A gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:20237252|REF_RGD_ID:7483614 11745640 VEGFA vascular endothelial growth factor A gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:24959006|REF_RGD_ID:15014784 11745640 VEGFA vascular endothelial growth factor A gene DOID:9001472 Nasal Polyps ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:Turbinates: PMID:12761968|REF_RGD_ID:7394830 11745640 VEGFA vascular endothelial growth factor A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18416461|PMID:18458672 11745640 VEGFA vascular endothelial growth factor A gene DOID:9001600 Wounds and Injuries treatment ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:23603001|REF_RGD_ID:8655580 11745640 VEGFA vascular endothelial growth factor A gene DOID:9001725 Retina Reperfusion Injury ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:17591953|REF_RGD_ID:7421609 11745640 VEGFA vascular endothelial growth factor A gene DOID:9002159 Liver Reperfusion Injury ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:26451003|REF_RGD_ID:15036791 11745640 VEGFA vascular endothelial growth factor A gene DOID:9002165 Diabetic Nephropathies ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18630688 11745640 VEGFA vascular endothelial growth factor A gene DOID:9002165 Diabetic Nephropathies ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:urine PMID:15610240|REF_RGD_ID:2313731 11745640 VEGFA vascular endothelial growth factor A gene DOID:9002170 Experimental Neoplasms ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20376344|PMID:20932960|PMID:28574600 11745640 VEGFA vascular endothelial growth factor A gene DOID:9002221 Hyperplasia ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Breast Diseases;protein:increased expression:breast PMID:19623180|REF_RGD_ID:2315458 11745640 VEGFA vascular endothelial growth factor A gene DOID:9002304 Prostatic Neoplasms ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12893367|PMID:16606632|PMID:16908180|PMID:20052738 11745640 VEGFA vascular endothelial growth factor A gene DOID:9002457 Experimental Arthritis ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26221077|PMID:9598899 11745640 VEGFA vascular endothelial growth factor A gene DOID:9002539 Glomus Tympanicum Tumor ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:20030694|REF_RGD_ID:8547978 11745640 VEGFA vascular endothelial growth factor A gene DOID:9002661 Diabetes Complications ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26073000 11745640 VEGFA vascular endothelial growth factor A gene DOID:9002676 Cerebral Hemorrhage ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17888890 11745640 VEGFA vascular endothelial growth factor A gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:731072 D RGD:9068941 20200609 RGD DNA:polymorphisms: :405G>C, -460C>T (human) PMID:19509553|REF_RGD_ID:2315464 11745640 VEGFA vascular endothelial growth factor A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:12387457|REF_RGD_ID:634258 11745640 VEGFA vascular endothelial growth factor A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:619991 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:spinal cord: PMID:17083617|REF_RGD_ID:7421596 11745640 VEGFA vascular endothelial growth factor A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA:decreased expression:Cerebrospinal Fluid: PMID:17083617|REF_RGD_ID:7421596 11745640 VEGFA vascular endothelial growth factor A gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:619991 D RGD:9068941 20200609 RGD mRNA:increased expression:retina: PMID:15303088|REF_RGD_ID:7483624 11745640 VEGFA vascular endothelial growth factor A gene DOID:9002928 Colonic Neoplasms ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18987561 11745640 VEGFA vascular endothelial growth factor A gene DOID:9002928 Colonic Neoplasms ISO RGD:731073 D RGD:9068941 20200609 RGD associated with Colitis PMID:21098094|REF_RGD_ID:5684533 11745640 VEGFA vascular endothelial growth factor A gene DOID:9002955 Nerve Degeneration treatment ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; PMID:26201024|REF_RGD_ID:11079183 11745640 VEGFA vascular endothelial growth factor A gene DOID:9003204 Neovascularization, Pathologic ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12399228|PMID:17533168 11745640 VEGFA vascular endothelial growth factor A gene DOID:9003219 Invasive Pulmonary Aspergillosis treatment ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:23303813|REF_RGD_ID:8655596 11745640 VEGFA vascular endothelial growth factor A gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 11745640 VEGFA vascular endothelial growth factor A gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:19723043|REF_RGD_ID:2315456 11745640 VEGFA vascular endothelial growth factor A gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:19783962|REF_RGD_ID:2315454 11745640 VEGFA vascular endothelial growth factor A gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23694759 11745640 VEGFA vascular endothelial growth factor A gene DOID:9004210 Tympanic Membrane Perforation ISO RGD:619991 D RGD:9068941 20200609 RGD mRNA:increased expression:tympanic membrane: PMID:24012216|REF_RGD_ID:8547981 11745640 VEGFA vascular endothelial growth factor A gene DOID:9004210 Tympanic Membrane Perforation disease_progression ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:20015768|REF_RGD_ID:8655595 11745640 VEGFA vascular endothelial growth factor A gene DOID:9004464 Skin Neoplasms ISO RGD:731073 D RGD:9068941 20200609 RGD PMID:15150105|REF_RGD_ID:7421589 11745640 VEGFA vascular endothelial growth factor A gene DOID:9004610 Acute Lung Injury ISO RGD:619991 D RGD:9068941 20200609 RGD associated with Endotoxemia;mRNA, protein:altered expression:lung, plasma PMID:21528367|REF_RGD_ID:5684427 11745640 VEGFA vascular endothelial growth factor A gene DOID:9004643 Urologic Neoplasms ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23009795 11745640 VEGFA vascular endothelial growth factor A gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20158913 11745640 VEGFA vascular endothelial growth factor A gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:731072 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:21890879|REF_RGD_ID:6771361 11745640 VEGFA vascular endothelial growth factor A gene DOID:9005372 Inflammation ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19324842 11745640 VEGFA vascular endothelial growth factor A gene DOID:9005605 Arteriovenous Fistula ISO RGD:619991 D RGD:9068941 20200609 RGD protein:increased expression:brain cortex, brain dura mater: PMID:24626343|REF_RGD_ID:8551823 11745640 VEGFA vascular endothelial growth factor A gene DOID:9005605 Arteriovenous Fistula ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:10541235|REF_RGD_ID:8655590 11745640 VEGFA vascular endothelial growth factor A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:19934008|REF_RGD_ID:7421582 11745640 VEGFA vascular endothelial growth factor A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619991 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:16741021|REF_RGD_ID:2313724 11745640 VEGFA vascular endothelial growth factor A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22191573 11745640 VEGFA vascular endothelial growth factor A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731073 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle PMID:16816123|REF_RGD_ID:2313725 11745640 VEGFA vascular endothelial growth factor A gene DOID:9005858 Periodontal Atrophy ISO RGD:619991 D RGD:9068941 20200609 RGD protein:decreased expression:maxilla: PMID:22716278|REF_RGD_ID:7421608 11745640 VEGFA vascular endothelial growth factor A gene DOID:9005873 Tongue Neoplasms disease_progression ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:15289890|REF_RGD_ID:7488946 11745640 VEGFA vascular endothelial growth factor A gene DOID:9006169 Head and Neck Neoplasms ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16499871 11745640 VEGFA vascular endothelial growth factor A gene DOID:9006618 Liver Metastasis ISO RGD:731072 D RGD:9068941 20200609 RGD associated with colorectal carcinoma;mRNA,protein:increased expression:liver: PMID:22156924|REF_RGD_ID:15014782 11745640 VEGFA vascular endothelial growth factor A gene DOID:9006646 Metabolic Syndrome ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:22206010|REF_RGD_ID:7483588 11745640 VEGFA vascular endothelial growth factor A gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:731072 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068094 11745640 VEGFA vascular endothelial growth factor A gene DOID:9007 sudden infant death syndrome ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:12563064|REF_RGD_ID:634255 11745640 VEGFA vascular endothelial growth factor A gene DOID:9007096 Stroke ISO RGD:619991 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:11585245|REF_RGD_ID:7421577 11745640 VEGFA vascular endothelial growth factor A gene DOID:9007102 Myocardial Ischemia ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14503966|PMID:14583313|PMID:15347709|PMID:16214533|PMID:9860779 11745640 VEGFA vascular endothelial growth factor A gene DOID:9007334 Small-For-Size Syndrome treatment ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:22151301|REF_RGD_ID:10053671 11745640 VEGFA vascular endothelial growth factor A gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11745640 VEGFA vascular endothelial growth factor A gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:17784864|REF_RGD_ID:15003197 11745640 VEGFA vascular endothelial growth factor A gene DOID:9007502 Brain Neoplasms ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20932960 11745640 VEGFA vascular endothelial growth factor A gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:731072 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:30090327 11745640 VEGFA vascular endothelial growth factor A gene DOID:9007651 Chronic Bronchitis ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19263519 11745640 VEGFA vascular endothelial growth factor A gene DOID:9007715 Endometrial Neoplasms ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17380299 11745640 VEGFA vascular endothelial growth factor A gene DOID:9007748 Retinal Neovascularization ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:12900522|REF_RGD_ID:1580564 11745640 VEGFA vascular endothelial growth factor A gene DOID:9007748 Retinal Neovascularization ISO RGD:619991 D RGD:9068941 20200609 RGD associated with hypoxia;mRNA:increased expression:retina: PMID:8859080|REF_RGD_ID:7483620 11745640 VEGFA vascular endothelial growth factor A gene DOID:9007748 Retinal Neovascularization ISO RGD:731073 D RGD:9068941 20200609 RGD PMID:23324288|REF_RGD_ID:8548102 11745640 VEGFA vascular endothelial growth factor A gene DOID:9007748 Retinal Neovascularization ISO RGD:731073 D RGD:9068941 20200609 RGD associated with hypoxia;mRNA,protein:increased expression:retina: PMID:7846076|REF_RGD_ID:8547994 11745640 VEGFA vascular endothelial growth factor A gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 11745640 VEGFA vascular endothelial growth factor A gene DOID:9007874 Liver Failure ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16757304 11745640 VEGFA vascular endothelial growth factor A gene DOID:9008023 Memory Disorders ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20801723 11745640 VEGFA vascular endothelial growth factor A gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:nasal biopsies,nasal lavage fluid: PMID:12633568|REF_RGD_ID:7483595 11745640 VEGFA vascular endothelial growth factor A gene DOID:9008217 Hemorrhage ISO RGD:731072 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068094 11745640 VEGFA vascular endothelial growth factor A gene DOID:9008537 Polypoidal Choroidal Vasculopathy susceptibility ISO RGD:731072 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :rs833069(human) PMID:22307775|REF_RGD_ID:7483605 11745640 VEGFA vascular endothelial growth factor A gene DOID:9008660 Infantile Capillary Hemangioma disease_progression ISO RGD:731072 D RGD:9068941 20221117 RGD PMID:26957058|REF_RGD_ID:155663370 11745640 VEGFA vascular endothelial growth factor A gene DOID:9008821 Otitis Media with Effusion ISO RGD:619991 D RGD:9068941 20200609 RGD protein:increased expression:mucosa of middle ear: PMID:22907120|REF_RGD_ID:8547964 11745640 VEGFA vascular endothelial growth factor A gene DOID:9008939 Breast Neoplasms ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:19567820|REF_RGD_ID:2315461 11745640 VEGFA vascular endothelial growth factor A gene DOID:9008939 Breast Neoplasms ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:19722158|REF_RGD_ID:2315457 11745640 VEGFA vascular endothelial growth factor A gene DOID:905 Zellweger syndrome ISO RGD:731072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11745640 VEGFA vascular endothelial growth factor A gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:731072 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :(rs3025039),(rs699947),(rs833061)(human) PMID:17983459|REF_RGD_ID:13432134 11745640 VEGFA vascular endothelial growth factor A gene DOID:9256 colorectal cancer ISO RGD:731072 D RGD:9068941 20220609 RGD mRNA:increased expression:colorectum (human) PMID:21839130|REF_RGD_ID:152985531 11745640 VEGFA vascular endothelial growth factor A gene DOID:9256 colorectal cancer ameliorates ISO RGD:731072 D RGD:9068941 20220421 RGD human cells in mouse model PMID:30789971|REF_RGD_ID:151893289 11745640 VEGFA vascular endothelial growth factor A gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:731072 D RGD:9068941 20210514 RGD PMID:16480593|REF_RGD_ID:126925191 11745640 VEGFA vascular endothelial growth factor A gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:731072 D RGD:9068941 20220811 RGD protein:increased expression:nasopharynx (human) PMID:23631129|REF_RGD_ID:153305949 11745640 VEGFA vascular endothelial growth factor A gene DOID:9261 nasopharynx carcinoma severity ISO RGD:731072 D RGD:9068941 20210716 RGD protein:increased expression:mucosa of nasopharynx (human) PMID:30123088|REF_RGD_ID:149735327 11745640 VEGFA vascular endothelial growth factor A gene DOID:9352 type 2 diabetes mellitus ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ventricle myocardium PMID:16139132|REF_RGD_ID:2313728 11745640 VEGFA vascular endothelial growth factor A gene DOID:9538 multiple myeloma susceptibility ISO RGD:731072 D RGD:9068941 20200609 RGD DNA:SNPs,haplotypes: :rs699947,rs1570360, rs2010963(human) PMID:24687381|REF_RGD_ID:11079182 11745640 VEGFA vascular endothelial growth factor A gene DOID:9743 diabetic neuropathy treatment ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; PMID:26201024|REF_RGD_ID:11079183 11745640 VEGFA vascular endothelial growth factor A gene DOID:9810 polyarteritis nodosa ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:15965421|REF_RGD_ID:8655581 11745668 NMT2 N-myristoyltransferase 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1349505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11745668 NMT2 N-myristoyltransferase 2 gene DOID:5119 ovarian cyst ISO RGD:1349505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 11745668 NMT2 N-myristoyltransferase 2 gene DOID:630 genetic disease ISO RGD:1349505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11745684 POLR2F RNA polymerase II, I and III subunit F gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:734063 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11745684 POLR2F RNA polymerase II, I and III subunit F gene DOID:0090036 myoclonic dystonia 26 ISO RGD:734063 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11745684 POLR2F RNA polymerase II, I and III subunit F gene DOID:0090111 PCWH syndrome ISO RGD:734063 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: PCWH syndrome PMID:10482261|PMID:10762540|PMID:11026454|PMID:12447940|PMID:15004559|PMID:1636383|PMID:17855451|PMID:17999358|PMID:19764030|PMID:20127975|PMID:22008330|PMID:24033266|PMID:25741868|PMID:25991456|PMID:26467025|PMID:27240497|PMID:28492532|PMID:30311386|PMID:9462749 11745684 POLR2F RNA polymerase II, I and III subunit F gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:734063 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11745684 POLR2F RNA polymerase II, I and III subunit F gene DOID:0110948 Waardenburg syndrome type 1 ISO RGD:734063 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 1 PMID:21898658|PMID:28390600 11745684 POLR2F RNA polymerase II, I and III subunit F gene DOID:0110950 Waardenburg syndrome type 2A ISO RGD:734063 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 2A PMID:25741868|PMID:29407415|PMID:30311386|PMID:34599368 11745684 POLR2F RNA polymerase II, I and III subunit F gene DOID:0110953 Waardenburg syndrome type 4A ISO RGD:734063 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 4A PMID:25741868 11745684 POLR2F RNA polymerase II, I and III subunit F gene DOID:0110955 Waardenburg syndrome type 4C ISO RGD:734063 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 4C PMID:10077527|PMID:15004559|PMID:18348274|PMID:21965087|PMID:24033266|PMID:25741868|PMID:25991456|PMID:28492532|PMID:29407415|PMID:30311386|PMID:33442024|PMID:33724713|PMID:34599368|PMID:9462749 11745684 POLR2F RNA polymerase II, I and III subunit F gene DOID:0110956 Waardenburg syndrome type 2E ISO RGD:734063 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 2E | ClinVar Annotator: match by term: Waardenburg syndrome type 2E, with neurologic involvement | ClinVar Annotator: match by term: Waardenburg syndrome type 2E, without neurologic involvement PMID:10077527|PMID:10441344|PMID:17999358|PMID:18348267|PMID:18627047|PMID:19208381|PMID:20478267|PMID:21898658|PMID:21965087|PMID:23237859|PMID:23643381|PMID:24033266|PMID:25077900|PMID:25741868|PMID:26467025|PMID:27240497|PMID:27562378|PMID:28000701|PMID:28492532|PMID:31152317|PMID:31427586|PMID:32853555|PMID:32908489|PMID:33442024|PMID:33597575|PMID:33865100|PMID:34142234|PMID:35802133|PMID:36633841|PMID:8911608 11745684 POLR2F RNA polymerase II, I and III subunit F gene DOID:10487 Hirschsprung's disease ISO RGD:734063 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:24357527 11745684 POLR2F RNA polymerase II, I and III subunit F gene DOID:1059 intellectual disability ISO RGD:734063 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11745684 POLR2F RNA polymerase II, I and III subunit F gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:734063 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11026454|PMID:16504559 11745684 POLR2F RNA polymerase II, I and III subunit F gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:734063 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11745684 POLR2F RNA polymerase II, I and III subunit F gene DOID:3614 Kallmann syndrome ISO RGD:734063 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Hypogonadism with anosmia 11745684 POLR2F RNA polymerase II, I and III subunit F gene DOID:630 genetic disease ISO RGD:734063 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11745684 POLR2F RNA polymerase II, I and III subunit F gene DOID:9004042 Olfaction Disorders ISO RGD:734063 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Anosmia PMID:25741868 11745684 POLR2F RNA polymerase II, I and III subunit F gene DOID:9004147 Anosmia ISO RGD:734063 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Anosmia PMID:25741868 11745684 POLR2F RNA polymerase II, I and III subunit F gene DOID:9004538 Hearing Loss ISO RGD:734063 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:17999358|PMID:20127975|PMID:26467025|PMID:27240497|PMID:28492532|PMID:30311386 11745684 POLR2F RNA polymerase II, I and III subunit F gene DOID:9008681 Deafness ISO RGD:734063 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Deafness with anatomical inner ear anomalies PMID:25077900|PMID:27562378|PMID:28492532|PMID:29419413|PMID:32908489|PMID:35802133|PMID:36633841 11745684 POLR2F RNA polymerase II, I and III subunit F gene DOID:9258 Waardenburg's syndrome ISO RGD:734063 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome PMID:17999358|PMID:20127975|PMID:22008330|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27240497|PMID:28492532|PMID:30311386|PMID:9462749 11745706 STK40 serine/threonine kinase 40 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11745706 STK40 serine/threonine kinase 40 gene DOID:630 genetic disease ISO RGD:1605028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11745725 LOC100973408 mitochondrial enolase superfamily member 1 gene DOID:12849 autistic disorder ISO RGD:1346972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11745725 LOC100973408 mitochondrial enolase superfamily member 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1346972 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:25741868|PMID:35931051 11745725 LOC100973408 mitochondrial enolase superfamily member 1 gene DOID:630 genetic disease ISO RGD:1346972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11745725 LOC100973408 mitochondrial enolase superfamily member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11745725 LOC100973408 mitochondrial enolase superfamily member 1 gene DOID:9006803 DYSKERATOSIS CONGENITA, DIGENIC ISO RGD:1346972 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, digenic PMID:25741868|PMID:35931051 11745725 LOC100973408 mitochondrial enolase superfamily member 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1346972 D RGD:9068941 20220616 RGD DNA:SNP:cds:rs699517 (human) PMID:28347776|REF_RGD_ID:152995291 11745754 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:0050646 distal arthrogryposis ISO RGD:1345467 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis PMID:25741868 11745754 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1345467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11745754 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:0080982 X-linked mental retardation-hypotonic facies syndrome-1 ISO RGD:1345467 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Carpenter-Waziri syndrome PMID:25741868 11745754 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:0081098 autosomal recessive intellectual developmental disorder 13 ISO RGD:1345467 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 13 PMID:25741868 11745754 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1345467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:11152147|PMID:24726473|PMID:25741868|PMID:27714920|PMID:27974811|PMID:31680123|PMID:8423615 11745754 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:0111607 distal arthrogryposis type 3 ISO RGD:1345467 D RGD:7240710 20180130 OMIM 11745754 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:0111607 distal arthrogryposis type 3 ISO RGD:1345467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gordon syndrome PMID:11152147|PMID:24726473|PMID:25741868|PMID:27653382|PMID:27714920|PMID:27843126|PMID:28492532|PMID:30285720|PMID:31680123|PMID:8423615 11745754 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:0111608 distal arthrogryposis type 5 ISO RGD:1345467 D RGD:7240710 20180130 OMIM 11745754 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:0111608 distal arthrogryposis type 5 ISO RGD:1345467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome PMID:11152147|PMID:15103714|PMID:1941966|PMID:23487782|PMID:24726473|PMID:25741868|PMID:27714920|PMID:28492532|PMID:31680123|PMID:32860008|PMID:32901917|PMID:8423615|PMID:8533802 11745754 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:1059 intellectual disability ISO RGD:1345467 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11745754 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:12849 autistic disorder ISO RGD:1345467 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868 11745754 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:1969 cerebral palsy ISO RGD:1345467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 11745754 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:423 myopathy ISO RGD:1345467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 11745754 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:5419 schizophrenia ISO RGD:1345467 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11745754 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:543 dystonia ISO RGD:1345467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 11745754 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:630 genetic disease ISO RGD:1345467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11152147|PMID:15103714|PMID:24726473|PMID:25741868|PMID:27714920|PMID:28492532|PMID:31680123|PMID:8423615 11745754 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:9000467 Marden-Walker Syndrome ISO RGD:1345467 D RGD:7240710 20180130 OMIM 11745754 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:9000467 Marden-Walker Syndrome ISO RGD:1345467 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Marden-Walker syndrome PMID:24726473|PMID:25741868|PMID:28492532 11745754 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:9001276 Failure to Thrive ISO RGD:1345467 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868 11745754 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:1345467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotonia 11745754 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:9005963 Distal Arthrogryposis, with Impaired Proprioception and Touch ISO RGD:1345467 D RGD:7240710 20190315 OMIM 11745754 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:9005963 Distal Arthrogryposis, with Impaired Proprioception and Touch ISO RGD:1345467 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, with impaired proprioception and touch PMID:11152147|PMID:24726473|PMID:25741868|PMID:27607563|PMID:27653382|PMID:27714920|PMID:27843126|PMID:27974811|PMID:28492532|PMID:31680123|PMID:8423615 11745754 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:9006836 Contracture ISO RGD:1345467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 11745822 SGCD sarcoglycan delta gene DOID:0050700 cardiomyopathy ISO RGD:1315366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:24503780|PMID:25741868|PMID:26084686|PMID:26467025|PMID:28492532 11745822 SGCD sarcoglycan delta gene DOID:0050700 cardiomyopathy severity ISO RGD:1315367 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.Ser151Ala(mouse) PMID:23695275|REF_RGD_ID:13605617 11745822 SGCD sarcoglycan delta gene DOID:0050700 cardiomyopathy severity ISO RGD:1315367 D RGD:9068941 20200609 RGD associated with limb-girdle muscular dystrophy PMID:10481911|REF_RGD_ID:13605616 11745822 SGCD sarcoglycan delta gene DOID:0050700 cardiomyopathy treatment ISO RGD:1315367 D RGD:9068941 20200609 RGD associated with Sgcd knockout PMID:19218289|REF_RGD_ID:13605618 11745822 SGCD sarcoglycan delta gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1315366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 11745822 SGCD sarcoglycan delta gene DOID:0080600 COVID-19 ISO RGD:1315366 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11745822 SGCD sarcoglycan delta gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1315366 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:10974018|PMID:12794684|PMID:18414213|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26467025|PMID:26720722|PMID:26968544|PMID:28401079|PMID:28492532 11745822 SGCD sarcoglycan delta gene DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F ISO RGD:1315366 D RGD:7240710 20180130 OMIM 11745822 SGCD sarcoglycan delta gene DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F ISO RGD:1315366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2F | ClinVar Annotator: match by term: Delta-sarcoglycanopathy | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6, DIGENIC PMID:10735275|PMID:10838250|PMID:10974018|PMID:12794684|PMID:14564412|PMID:16199547|PMID:16432241|PMID:16524571|PMID:17164264|PMID:17576681|PMID:17994539|PMID:18285821|PMID:18414213|PMID:19259135|PMID:19770540|PMID:19771157|PMID:20623375|PMID:22095924|PMID:22337857|PMID:23695275|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25637381|PMID:25640679|PMID:25741868|PMID:26077850|PMID:26084686|PMID:26467025|PMID:26498160|PMID:26633542|PMID:26720722|PMID:26968544|PMID:27532257|PMID:28401079|PMID:28412737|PMID:28492532|PMID:28687063|PMID:28855170|PMID:31019283|PMID:31983221|PMID:32875335|PMID:8841194|PMID:9536098|PMID:9832045 11745822 SGCD sarcoglycan delta gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1315366 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 PMID:23861362|PMID:24033266|PMID:25741868|PMID:26720722|PMID:28492532 11745822 SGCD sarcoglycan delta gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1315366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:24033266|PMID:25637381|PMID:25741868 11745822 SGCD sarcoglycan delta gene DOID:0110436 dilated cardiomyopathy 1L ISO RGD:1315366 D RGD:7240710 20180130 OMIM 11745822 SGCD sarcoglycan delta gene DOID:0110436 dilated cardiomyopathy 1L ISO RGD:1315366 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1L PMID:10735275|PMID:10838250|PMID:10974018|PMID:14564412|PMID:16199547|PMID:16432241|PMID:16524571|PMID:17164264|PMID:18285821|PMID:19259135|PMID:19770540|PMID:19771157|PMID:20623375|PMID:22095924|PMID:22337857|PMID:23695275|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26720722|PMID:27532257|PMID:28412737|PMID:28492532|PMID:31019283|PMID:31983221|PMID:8841194 11745822 SGCD sarcoglycan delta gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1315366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:28492532 11745822 SGCD sarcoglycan delta gene DOID:10908 hydrocephalus ISO RGD:1315366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 11745822 SGCD sarcoglycan delta gene DOID:11724 limb-girdle muscular dystrophy severity ISO RGD:1315367 D RGD:9068941 20200609 RGD PMID:10481911|REF_RGD_ID:13605616 11745822 SGCD sarcoglycan delta gene DOID:12930 dilated cardiomyopathy ISO RGD:1315366 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:24033266|PMID:25637381|PMID:25741868|PMID:26720722|PMID:28492532 11745822 SGCD sarcoglycan delta gene DOID:440 neuromuscular disease ISO RGD:1315366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:10735275|PMID:10838250|PMID:24033266|PMID:24503780|PMID:27532257|PMID:28492532|PMID:8841194 11745822 SGCD sarcoglycan delta gene DOID:630 genetic disease ISO RGD:1315366 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26467025|PMID:28492532 11745822 SGCD sarcoglycan delta gene DOID:9884 muscular dystrophy ISO RGD:1315366 D RGD:9068941 20200609 RGD Limb-girdle muscular dystrophies (LGMD), OMIM:601411 PMID:8841194|REF_RGD_ID:1599341 11745845 LIN52 lin-52 DREAM MuvB core complex component gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1315617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 11745845 LIN52 lin-52 DREAM MuvB core complex component gene DOID:1059 intellectual disability ISO RGD:1315617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11745845 LIN52 lin-52 DREAM MuvB core complex component gene DOID:630 genetic disease ISO RGD:1315617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11745855 NEXN nexilin F-actin binding protein gene DOID:0050700 cardiomyopathy ISO RGD:1354261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:16199547|PMID:17576681|PMID:19881492|PMID:20970104|PMID:23299917|PMID:24033266|PMID:24503780|PMID:25741868|PMID:25979592|PMID:26383259|PMID:27332903|PMID:27486136|PMID:27532257|PMID:28087566|PMID:28333919|PMID:28492532|PMID:28798025|PMID:29253866|PMID:29961767|PMID:30012837|PMID:30354306|PMID:30403391|PMID:30847666|PMID:31028938|PMID:31514951|PMID:31983221|PMID:32058062|PMID:32814711|PMID:32870709|PMID:33949776|PMID:34363016|PMID:9536098 11745855 NEXN nexilin F-actin binding protein gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1354261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:16199547|PMID:20970104|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28798025|PMID:31514951|PMID:32058062|PMID:32814711|PMID:32870709|PMID:33949776 11745855 NEXN nexilin F-actin binding protein gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1354261 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:27486136|PMID:28492532|PMID:28798025 11745855 NEXN nexilin F-actin binding protein gene DOID:0110326 hypertrophic cardiomyopathy 20 ISO RGD:1354261 D RGD:7240710 20180130 OMIM 11745855 NEXN nexilin F-actin binding protein gene DOID:0110326 hypertrophic cardiomyopathy 20 ISO RGD:1354261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 20 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 20 PMID:16199547|PMID:17576681|PMID:19881492|PMID:20970104|PMID:23299917|PMID:23481551|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25741868|PMID:25979592|PMID:26265630|PMID:26383259|PMID:26659360|PMID:27486136|PMID:27532257|PMID:28087566|PMID:28333919|PMID:28492532|PMID:28798025|PMID:29247119|PMID:29253866|PMID:29875424|PMID:29961767|PMID:30354306|PMID:30403391|PMID:30471092|PMID:30847666|PMID:31028938|PMID:31514951|PMID:31983221|PMID:32058062|PMID:32814711|PMID:32870709|PMID:32880476|PMID:33027564|PMID:33500567|PMID:33949776|PMID:34363016|PMID:9536098 11745855 NEXN nexilin F-actin binding protein gene DOID:0110424 dilated cardiomyopathy 1CC ISO RGD:1354261 D RGD:7240710 20180130 OMIM 11745855 NEXN nexilin F-actin binding protein gene DOID:0110424 dilated cardiomyopathy 1CC ISO RGD:1354261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1CC PMID:16199547|PMID:17576681|PMID:19763152|PMID:19881492|PMID:20307669|PMID:20970104|PMID:22406018|PMID:23299917|PMID:23481551|PMID:24033266|PMID:24503780|PMID:24866383|PMID:25163546|PMID:25640679|PMID:25741868|PMID:25979592|PMID:26265630|PMID:26383259|PMID:26659360|PMID:27066507|PMID:27486136|PMID:27532257|PMID:28087566|PMID:28333919|PMID:28492532|PMID:28704380|PMID:28790153|PMID:28798025|PMID:29247119|PMID:29253866|PMID:29875424|PMID:29961767|PMID:30012837|PMID:30354306|PMID:30403391|PMID:30471092|PMID:30847666|PMID:31028938|PMID:31514951|PMID:31983221|PMID:32058062|PMID:32814711|PMID:32870709|PMID:32880476|PMID:33027564|PMID:33500567|PMID:33949776|PMID:34363016|PMID:9536098 11745855 NEXN nexilin F-actin binding protein gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1354261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868|PMID:28492532 11745855 NEXN nexilin F-actin binding protein gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1354261 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:25741868|PMID:28492532 11745855 NEXN nexilin F-actin binding protein gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1354261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:28492532|PMID:32058062|PMID:32814711|PMID:32870709|PMID:33949776 11745855 NEXN nexilin F-actin binding protein gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1354261 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:19881492|PMID:20970104|PMID:23299917|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26383259|PMID:28492532|PMID:29253866|PMID:29961767|PMID:30847666|PMID:31028938|PMID:34363016 11745855 NEXN nexilin F-actin binding protein gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1354261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:19881492|PMID:24033266|PMID:25163546|PMID:25741868|PMID:28492532|PMID:30847666|PMID:32058062|PMID:32814711|PMID:32870709|PMID:32880476|PMID:33949776 11745855 NEXN nexilin F-actin binding protein gene DOID:12930 dilated cardiomyopathy ISO RGD:1354261 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:19881492|PMID:20970104|PMID:23299917|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26383259|PMID:28333919|PMID:28492532|PMID:29253866|PMID:29961767|PMID:30012837|PMID:30354306|PMID:30847666|PMID:31028938|PMID:31333075|PMID:31568572|PMID:31983221|PMID:34363016 11745855 NEXN nexilin F-actin binding protein gene DOID:12930 dilated cardiomyopathy ISO RGD:1354261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:19881492|PMID:20970104|PMID:23299917|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26383259|PMID:27532257|PMID:28333919|PMID:28492532|PMID:29253866|PMID:29961767|PMID:30012837|PMID:30354306|PMID:30847666|PMID:31028938|PMID:31333075|PMID:31568572|PMID:31983221|PMID:34363016 11745855 NEXN nexilin F-actin binding protein gene DOID:2843 long QT syndrome ISO RGD:1354261 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24033266|PMID:25741868 11745855 NEXN nexilin F-actin binding protein gene DOID:630 genetic disease ISO RGD:1354261 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221|PMID:33500567 11745855 NEXN nexilin F-actin binding protein gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1354261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:34540771 11745855 NEXN nexilin F-actin binding protein gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1354261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:24033266|PMID:28492532 11745855 NEXN nexilin F-actin binding protein gene DOID:9007033 Ventricular Premature Complexes ISO RGD:1354261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction PMID:19881492|PMID:24033266|PMID:24503780|PMID:25741868|PMID:25979592|PMID:28492532 11745906 CXXC5 CXXC finger protein 5 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1345048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11745906 CXXC5 CXXC finger protein 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1345048 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11745906 CXXC5 CXXC finger protein 5 gene DOID:630 genetic disease ISO RGD:1345048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11745906 CXXC5 CXXC finger protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11745906 CXXC5 CXXC finger protein 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345048 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11745923 TRAF7 TNF receptor associated factor 7 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1604273 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 11745923 TRAF7 TNF receptor associated factor 7 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1604273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 11745923 TRAF7 TNF receptor associated factor 7 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11745923 TRAF7 TNF receptor associated factor 7 gene DOID:1788 peritoneal mesothelioma ISO RGD:1604273 D RGD:9068941 20220224 RGD DNA:missense mutations:multiple PMID:30171198|REF_RGD_ID:151356964 11745923 TRAF7 TNF receptor associated factor 7 gene DOID:1790 malignant mesothelioma ISO RGD:1604273 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 11745923 TRAF7 TNF receptor associated factor 7 gene DOID:1826 epilepsy ISO RGD:1604273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11745923 TRAF7 TNF receptor associated factor 7 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11745923 TRAF7 TNF receptor associated factor 7 gene DOID:2871 endometrial carcinoma ISO RGD:1604273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 11745923 TRAF7 TNF receptor associated factor 7 gene DOID:630 genetic disease ISO RGD:1604273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25961944|PMID:28492532|PMID:29961569|PMID:32376980|PMID:32399599|PMID:32459067 11745923 TRAF7 TNF receptor associated factor 7 gene DOID:684 hepatocellular carcinoma ISO RGD:1604273 D RGD:9068941 20220224 RGD mRNA:increased expression:liver PMID:31730901|REF_RGD_ID:151356961 11745923 TRAF7 TNF receptor associated factor 7 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1604273 D RGD:9068941 20220224 RGD PMID:31730901|REF_RGD_ID:151356961 11745923 TRAF7 TNF receptor associated factor 7 gene DOID:746 adenomatoid tumor ISO RGD:1604273 D RGD:9068941 20220224 RGD DNA:missense mutations:multiple PMID:29148537|REF_RGD_ID:151356962 11745923 TRAF7 TNF receptor associated factor 7 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1604273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 11745923 TRAF7 TNF receptor associated factor 7 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1559653 D RGD:9068941 20220224 RGD mRNA, protein:increased expression:spinal cord PMID:30100091|REF_RGD_ID:151356968 11745923 TRAF7 TNF receptor associated factor 7 gene DOID:9002555 Cardiac, Facial, and Digital Anomalies with Developmental Delay ISO RGD:1604273 D RGD:7240710 20190315 OMIM 11745923 TRAF7 TNF receptor associated factor 7 gene DOID:9002555 Cardiac, Facial, and Digital Anomalies with Developmental Delay ISO RGD:1604273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac, facial, and digital anomalies with developmental delay | ClinVar Annotator: match by term: TRAF7-Related Disorder | ClinVar Annotator: match by term: TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome PMID:25741868|PMID:25961944|PMID:29961569|PMID:32376980|PMID:32399599 11745923 TRAF7 TNF receptor associated factor 7 gene DOID:9002555 Cardiac, Facial, and Digital Anomalies with Developmental Delay ISO RGD:1604273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac, facial, and digital anomalies with developmental delay | ClinVar Annotator: match by term: TRAF7-Related Disorder | ClinVar Annotator: match by term: TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome | ClinVar Annotator: match by term: TRAF7-related syndrome PMID:25741868|PMID:25961944|PMID:28492532|PMID:29961569|PMID:32376980|PMID:32399599|PMID:32459067 11745923 TRAF7 TNF receptor associated factor 7 gene DOID:9008086 Developmental Disabilities ISO RGD:1604273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11745952 THSD7A thrombospondin type 1 domain containing 7A gene DOID:3312 bipolar disorder ISO RGD:1602056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 11745952 THSD7A thrombospondin type 1 domain containing 7A gene DOID:630 genetic disease ISO RGD:1602056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11745984 METTL22 methyltransferase 22, Kin17 lysine gene DOID:630 genetic disease ISO RGD:1601964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746014 CEP78 centrosomal protein 78 gene DOID:0050572 cone-rod dystrophy ISO RGD:1346976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868 11746014 CEP78 centrosomal protein 78 gene DOID:0080075 Neu-Laxova syndrome 2 ISO RGD:1346976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neu-Laxova syndrome 2 PMID:17436247|PMID:25152457|PMID:28492532 11746014 CEP78 centrosomal protein 78 gene DOID:0080600 COVID-19 ISO RGD:1346976 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11746014 CEP78 centrosomal protein 78 gene DOID:10003 sensorineural hearing loss ISO RGD:1346976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:27588451|PMID:27588452|PMID:27627988|PMID:28492532 11746014 CEP78 centrosomal protein 78 gene DOID:630 genetic disease ISO RGD:1346976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11746014 CEP78 centrosomal protein 78 gene DOID:8501 fundus dystrophy ISO RGD:1346976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:27588451|PMID:27588452|PMID:27627988|PMID:28492532 11746014 CEP78 centrosomal protein 78 gene DOID:9000376 Cone-Rod Dystrophy and Hearing Loss 1 ISO RGD:1346976 D RGD:7240710 20220105 OMIM 11746014 CEP78 centrosomal protein 78 gene DOID:9000376 Cone-Rod Dystrophy and Hearing Loss 1 ISO RGD:1346976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 1 PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:27588451|PMID:27588452|PMID:27627988|PMID:28492532|PMID:31999394|PMID:34259627|PMID:9536098 11746042 RFX2 regulatory factor X2 gene DOID:0050591 tooth agenesis ISO RGD:1343231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tooth agenesis 11746042 RFX2 regulatory factor X2 gene DOID:630 genetic disease ISO RGD:1343231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746077 YIF1B Yip1 interacting factor homolog B, membrane trafficking protein gene DOID:630 genetic disease ISO RGD:1604767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:32006098|PMID:33103737 11746077 YIF1B Yip1 interacting factor homolog B, membrane trafficking protein gene DOID:9003570 Kaya-Barakat-Masson Syndrome ISO RGD:1604767 D RGD:7240710 20201223 OMIM 11746077 YIF1B Yip1 interacting factor homolog B, membrane trafficking protein gene DOID:9003570 Kaya-Barakat-Masson Syndrome ISO RGD:1604767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kaya-Barakat-Masson syndrome PMID:32006098|PMID:33103737 11746104 JPT2 Jupiter microtubule associated homolog 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1312960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 11746104 JPT2 Jupiter microtubule associated homolog 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1312960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11746104 JPT2 Jupiter microtubule associated homolog 2 gene DOID:1826 epilepsy ISO RGD:1312960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11746104 JPT2 Jupiter microtubule associated homolog 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1312960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11746104 JPT2 Jupiter microtubule associated homolog 2 gene DOID:630 genetic disease ISO RGD:1312960 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746124 FBXO34 F-box protein 34 gene DOID:630 genetic disease ISO RGD:1320823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746137 F10 coagulation factor X gene DOID:0060903 thrombosis ISO RGD:1342967 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1279834 11746137 F10 coagulation factor X gene DOID:1247 blood coagulation disease ISO RGD:1342967 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:62897 11746137 F10 coagulation factor X gene DOID:1588 thrombocytopenia ISO RGD:1342967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 11746137 F10 coagulation factor X gene DOID:1612 breast cancer ISO RGD:1342967 D RGD:9068941 20200609 RGD DNA:SNP: :rs3093261 (human) PMID:25407022|REF_RGD_ID:10449101 11746137 F10 coagulation factor X gene DOID:2213 hemorrhagic disease ISO RGD:1342967 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25582404|PMID:25741868|PMID:26879396|PMID:31064749|PMID:7669671 11746137 F10 coagulation factor X gene DOID:2215 factor VII deficiency ISO RGD:1342967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor VII deficiency PMID:10984565|PMID:12181036|PMID:25741868 11746137 F10 coagulation factor X gene DOID:2222 factor X deficiency ISO RGD:1342967 D RGD:7240710 20180130 OMIM 11746137 F10 coagulation factor X gene DOID:2222 factor X deficiency ISO RGD:1342967 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital factor X deficiency | ClinVar Annotator: match by term: F10 DEFICIENCY | ClinVar Annotator: match by term: Factor X deficiency | ClinVar Annotator: match by term: STUART-PROWER FACTOR DEFICIENCY PMID:10468877|PMID:10746568|PMID:10984565|PMID:12028042|PMID:12181036|PMID:16919077|PMID:18403394|PMID:1939653|PMID:1973167|PMID:1985698|PMID:20331754|PMID:21854511|PMID:25582404|PMID:25741868|PMID:26879396|PMID:2790181|PMID:28492532|PMID:29590070|PMID:30507709|PMID:31064749|PMID:31662920|PMID:3408671|PMID:34355501|PMID:7669671|PMID:7860069|PMID:8449937|PMID:8845463|PMID:8910490|PMID:9198147 11746137 F10 coagulation factor X gene DOID:5844 myocardial infarction ISO RGD:1342967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myocardial infarction, decreased susceptibility to PMID:10984565|PMID:12181036|PMID:25741868 11746137 F10 coagulation factor X gene DOID:630 genetic disease ISO RGD:1342967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746137 F10 coagulation factor X gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:1342967 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:22624582|REF_RGD_ID:11041730 11746137 F10 coagulation factor X gene DOID:9002488 Peritoneal Fibrosis ISO RGD:61850 D RGD:9068941 20200609 RGD PMID:19458308|REF_RGD_ID:7394780 11746137 F10 coagulation factor X gene DOID:9008217 Hemorrhage ISO RGD:1342967 D RGD:9068941 20200609 RGD PMID:8073392|REF_RGD_ID:11041766 11746137 F10 coagulation factor X gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:61850 D RGD:9068941 20200609 RGD PMID:16046705|REF_RGD_ID:1601105 11746152 FAS Fas cell surface death receptor gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:15148335|REF_RGD_ID:11049166 11746152 FAS Fas cell surface death receptor gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood mononuclear cell: PMID:7513372|REF_RGD_ID:11049453 11746152 FAS Fas cell surface death receptor gene DOID:0050523 adult T-cell leukemia/lymphoma susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: -670 G>A(human) PMID:17962369|REF_RGD_ID:11049147 11746152 FAS Fas cell surface death receptor gene DOID:0050697 chorioamnionitis ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:villous trophoblast PMID:12700199|REF_RGD_ID:12904022 11746152 FAS Fas cell surface death receptor gene DOID:0050700 cardiomyopathy ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10716473|PMID:10920071|PMID:17943461 11746152 FAS Fas cell surface death receptor gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 11746152 FAS Fas cell surface death receptor gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346266 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:bone marrow: PMID:9557605|REF_RGD_ID:11049447 11746152 FAS Fas cell surface death receptor gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood mononuclear cell: PMID:15686130|REF_RGD_ID:11049448 11746152 FAS Fas cell surface death receptor gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 11746152 FAS Fas cell surface death receptor gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:619831 D RGD:9068941 20200609 RGD associated with gastric adenocarcinoma PMID:29588340|REF_RGD_ID:13792594 11746152 FAS Fas cell surface death receptor gene DOID:0060108 brain glioma treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:29324390|REF_RGD_ID:13792598 11746152 FAS Fas cell surface death receptor gene DOID:0060704 lymphoproliferative syndrome ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:15148335|REF_RGD_ID:11049166 11746152 FAS Fas cell surface death receptor gene DOID:0060704 lymphoproliferative syndrome susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:deletions PMID:7539157|REF_RGD_ID:1600310 11746152 FAS Fas cell surface death receptor gene DOID:0080162 lupus nephritis ISO RGD:1346266 D RGD:9068941 20210813 CTD CTD Direct Evidence: marker/mechanism PMID:33632240 11746152 FAS Fas cell surface death receptor gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23127599 11746152 FAS Fas cell surface death receptor gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:insertion, deletions:cds:multiple (human) PMID:12466128|REF_RGD_ID:8662407 11746152 FAS Fas cell surface death receptor gene DOID:0081267 graft-versus-host disease ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:9404931|REF_RGD_ID:11049160 11746152 FAS Fas cell surface death receptor gene DOID:10223 dermatomyositis ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9182923|REF_RGD_ID:8662437 11746152 FAS Fas cell surface death receptor gene DOID:10283 prostate cancer disease_progression ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:17667965|REF_RGD_ID:2290050 11746152 FAS Fas cell surface death receptor gene DOID:10283 prostate cancer severity ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:18237448|REF_RGD_ID:2289639 11746152 FAS Fas cell surface death receptor gene DOID:10591 pre-eclampsia susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-670A>G (human) PMID:15695771|REF_RGD_ID:12903973 11746152 FAS Fas cell surface death receptor gene DOID:10591 pre-eclampsia susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-670A>G(rs1800682)(human) PMID:30066360|REF_RGD_ID:14700669 11746152 FAS Fas cell surface death receptor gene DOID:10652 Alzheimer's disease ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-670G>A (human) PMID:11129341|REF_RGD_ID:1358615 11746152 FAS Fas cell surface death receptor gene DOID:10652 Alzheimer's disease ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:brain, plaque (human) PMID:12742739|REF_RGD_ID:8663481 11746152 FAS Fas cell surface death receptor gene DOID:10808 gastric ulcer treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:29339218|REF_RGD_ID:13792597 11746152 FAS Fas cell surface death receptor gene DOID:10952 nephritis ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26590112 11746152 FAS Fas cell surface death receptor gene DOID:11054 urinary bladder cancer ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9070496 11746152 FAS Fas cell surface death receptor gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:-1377G>A,-670A>G PMID:16538171|REF_RGD_ID:2290063 11746152 FAS Fas cell surface death receptor gene DOID:11382 corneal neovascularization treatment ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:12506060|REF_RGD_ID:8662416 11746152 FAS Fas cell surface death receptor gene DOID:11383 cryptorchidism ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:29606031|REF_RGD_ID:13792609 11746152 FAS Fas cell surface death receptor gene DOID:11446 sciatic neuropathy ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:29970988|REF_RGD_ID:13792563 11746152 FAS Fas cell surface death receptor gene DOID:11713 diabetic angiopathy ISO RGD:1346266 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:15803113|REF_RGD_ID:2315753 11746152 FAS Fas cell surface death receptor gene DOID:11832 visual epilepsy ISO RGD:619831 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hippocampus (rat) PMID:11435933|REF_RGD_ID:8662911 11746152 FAS Fas cell surface death receptor gene DOID:12236 primary biliary cholangitis ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:lymphocyte: PMID:26429926|REF_RGD_ID:14700711 11746152 FAS Fas cell surface death receptor gene DOID:12336 male infertility ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:testis (rat) PMID:23441449|REF_RGD_ID:8663476 11746152 FAS Fas cell surface death receptor gene DOID:12337 varicocele ISO RGD:619831 D RGD:9068941 20200609 RGD protein:decreased expression:Leydig cell, spermatid PMID:16616089|REF_RGD_ID:1600348 11746152 FAS Fas cell surface death receptor gene DOID:12351 alcoholic hepatitis treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 11746152 FAS Fas cell surface death receptor gene DOID:12361 Graves' disease ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:thyroid gland, thyrocyte (human) PMID:11422195|REF_RGD_ID:8662820 11746152 FAS Fas cell surface death receptor gene DOID:12449 aplastic anemia ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:11876982|REF_RGD_ID:11049449 11746152 FAS Fas cell surface death receptor gene DOID:12449 aplastic anemia ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:CD34+ bone marrow cell PMID:7577642|REF_RGD_ID:11049159 11746152 FAS Fas cell surface death receptor gene DOID:12858 Huntington's disease ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:decreased expression:putamen,caudate: PMID:11054182|REF_RGD_ID:12903948 11746152 FAS Fas cell surface death receptor gene DOID:12894 Sjogren's syndrome ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9890678|REF_RGD_ID:8662410 11746152 FAS Fas cell surface death receptor gene DOID:12894 Sjogren's syndrome ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:9870874|REF_RGD_ID:8662451 11746152 FAS Fas cell surface death receptor gene DOID:12894 Sjogren's syndrome ISO RGD:1552455 D RGD:9068941 20200609 RGD protein:decreased expression:lacrimal gland, lymphocyte (mouse) PMID:11157873|REF_RGD_ID:8662436 11746152 FAS Fas cell surface death receptor gene DOID:12894 Sjogren's syndrome ISO RGD:1552455 D RGD:9068941 20220825 MouseDO OMIM:270150 11746152 FAS Fas cell surface death receptor gene DOID:12930 dilated cardiomyopathy ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17943461 11746152 FAS Fas cell surface death receptor gene DOID:12930 dilated cardiomyopathy ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:cardiocyte PMID:16761189|REF_RGD_ID:1600334 11746152 FAS Fas cell surface death receptor gene DOID:13099 Moyamoya disease ISO RGD:1346266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Moyamoya disease 11746152 FAS Fas cell surface death receptor gene DOID:13133 HELLP syndrome ISO RGD:619831 D RGD:9068941 20200609 RGD protein,mRNA:altered expression:placenta, liver: PMID:28501275|REF_RGD_ID:14700673 11746152 FAS Fas cell surface death receptor gene DOID:13133 HELLP syndrome susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-670A>G(rs1800682)(human) PMID:30066360|REF_RGD_ID:14700669 11746152 FAS Fas cell surface death receptor gene DOID:13241 Behcet's disease severity ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9836498|REF_RGD_ID:8662438 11746152 FAS Fas cell surface death receptor gene DOID:13767 clonorchiasis ISO RGD:1346266 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:18427836|REF_RGD_ID:2315733 11746152 FAS Fas cell surface death receptor gene DOID:13767 clonorchiasis ISO RGD:619831 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:18427836|REF_RGD_ID:2315733 11746152 FAS Fas cell surface death receptor gene DOID:14004 thoracic aortic aneurysm ISO RGD:1346266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 11746152 FAS Fas cell surface death receptor gene DOID:14067 Plasmodium falciparum malaria ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625619 11746152 FAS Fas cell surface death receptor gene DOID:14221 abdominal obesity-metabolic syndrome 1 ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:30172001|REF_RGD_ID:13792561 11746152 FAS Fas cell surface death receptor gene DOID:14330 Parkinson's disease ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:decreased expression:neurones of the substantia nigra pars: PMID:11054182|REF_RGD_ID:12903948 11746152 FAS Fas cell surface death receptor gene DOID:1485 cystic fibrosis severity ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:18685642|REF_RGD_ID:12903971 11746152 FAS Fas cell surface death receptor gene DOID:1577 limited scleroderma ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:17102953|REF_RGD_ID:12903974 11746152 FAS Fas cell surface death receptor gene DOID:1612 breast cancer susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-1377G>A PMID:17183065|REF_RGD_ID:2290054 11746152 FAS Fas cell surface death receptor gene DOID:1686 glaucoma ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:optic nerve head, axon (human) PMID:19043361|REF_RGD_ID:8662440 11746152 FAS Fas cell surface death receptor gene DOID:1749 squamous cell carcinoma ISO RGD:1346266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC PMID:10620127 11746152 FAS Fas cell surface death receptor gene DOID:1909 melanoma susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:-1377A>G,-670A>G(human) PMID:16538172|REF_RGD_ID:12903985 11746152 FAS Fas cell surface death receptor gene DOID:1936 atherosclerosis treatment ISO RGD:619831 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:29213335|REF_RGD_ID:13792600 11746152 FAS Fas cell surface death receptor gene DOID:2043 hepatitis B ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:12526294|REF_RGD_ID:14700675 11746152 FAS Fas cell surface death receptor gene DOID:2048 autoimmune hepatitis ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:lymphocyte: PMID:26429926|REF_RGD_ID:14700711 11746152 FAS Fas cell surface death receptor gene DOID:2048 autoimmune hepatitis treatment ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:28551553|REF_RGD_ID:14700710 11746152 FAS Fas cell surface death receptor gene DOID:224 transient cerebral ischemia ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:10972965|REF_RGD_ID:8662928 11746152 FAS Fas cell surface death receptor gene DOID:224 transient cerebral ischemia ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:18410517|REF_RGD_ID:2311437 11746152 FAS Fas cell surface death receptor gene DOID:224 transient cerebral ischemia treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:18981705|REF_RGD_ID:8686422 11746152 FAS Fas cell surface death receptor gene DOID:224 transient cerebral ischemia treatment ISO RGD:619831 D RGD:9068941 20220728 RGD protein:increased expression:brain (rat) PMID:30301943|REF_RGD_ID:153297779 11746152 FAS Fas cell surface death receptor gene DOID:2316 brain ischemia ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:16796407|REF_RGD_ID:1600333 11746152 FAS Fas cell surface death receptor gene DOID:2377 multiple sclerosis ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:white matter of brain: PMID:8879222|REF_RGD_ID:12903947 11746152 FAS Fas cell surface death receptor gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-670A>G (human) PMID:12098516|REF_RGD_ID:12903986 11746152 FAS Fas cell surface death receptor gene DOID:2378 relapsing-remitting multiple sclerosis susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:735T>C(human) PMID:15218339|REF_RGD_ID:12903953 11746152 FAS Fas cell surface death receptor gene DOID:2394 ovarian cancer disease_progression ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:blood, peritoneal fluid, T cell PMID:17565840|REF_RGD_ID:2290084 11746152 FAS Fas cell surface death receptor gene DOID:2475 chronic conjunctivitis ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:conjunctival epithelial cell (human) PMID:9990333|REF_RGD_ID:8662412 11746152 FAS Fas cell surface death receptor gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:12470426|REF_RGD_ID:2290077 11746152 FAS Fas cell surface death receptor gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:decreased expression PMID:16091761|REF_RGD_ID:2290075 11746152 FAS Fas cell surface death receptor gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:16541433|REF_RGD_ID:2290058 11746152 FAS Fas cell surface death receptor gene DOID:2841 asthma ISO RGD:619831 D RGD:9068941 20200609 RGD mRNA:increased expression:eosinophil PMID:16337971|REF_RGD_ID:1600350 11746152 FAS Fas cell surface death receptor gene DOID:2921 glomerulonephritis ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21880982 11746152 FAS Fas cell surface death receptor gene DOID:2921 glomerulonephritis treatment ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:9466307|REF_RGD_ID:8686428 11746152 FAS Fas cell surface death receptor gene DOID:2986 IgA glomerulonephritis treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:29844269|REF_RGD_ID:13792576 11746152 FAS Fas cell surface death receptor gene DOID:3021 acute kidney failure ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:renal tubule (rat) PMID:21374789|REF_RGD_ID:8663469 11746152 FAS Fas cell surface death receptor gene DOID:3070 high grade glioma severity ISO RGD:1552455 D RGD:9068941 20200609 RGD mouse gene in a rat model PMID:11440439|REF_RGD_ID:8663460 11746152 FAS Fas cell surface death receptor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:29208459|REF_RGD_ID:13792601 11746152 FAS Fas cell surface death receptor gene DOID:341 peripheral vascular disease ISO RGD:1346266 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma PMID:17075777|REF_RGD_ID:2315707 11746152 FAS Fas cell surface death receptor gene DOID:3429 inclusion body myositis ISO RGD:1346266 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:muscle PMID:9450780|REF_RGD_ID:12903959 11746152 FAS Fas cell surface death receptor gene DOID:3459 breast carcinoma ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:15792116|REF_RGD_ID:2290130 11746152 FAS Fas cell surface death receptor gene DOID:3492 mixed connective tissue disease ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9182923|REF_RGD_ID:8662437 11746152 FAS Fas cell surface death receptor gene DOID:3910 lung adenocarcinoma ISO RGD:1346266 D RGD:9068941 20220310 RGD mRNA:decreased expression:lung (human) PMID:29254206|REF_RGD_ID:151665107 11746152 FAS Fas cell surface death receptor gene DOID:409 liver disease treatment ISO RGD:619831 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:29852394|REF_RGD_ID:13792574 11746152 FAS Fas cell surface death receptor gene DOID:417 autoimmune disease ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22536412|PMID:2545777|PMID:26590112 11746152 FAS Fas cell surface death receptor gene DOID:437 myasthenia gravis ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15169653 11746152 FAS Fas cell surface death receptor gene DOID:437 myasthenia gravis ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood, T lymphocyte (human) PMID:23043710|REF_RGD_ID:8662430 11746152 FAS Fas cell surface death receptor gene DOID:4440 seminoma ISO RGD:1346266 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:testis PMID:17916181|REF_RGD_ID:2290049 11746152 FAS Fas cell surface death receptor gene DOID:4448 macular degeneration severity ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:choroid, epithelioid cell (human) PMID:9488273|REF_RGD_ID:8662418 11746152 FAS Fas cell surface death receptor gene DOID:4450 renal cell carcinoma ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:17031406|REF_RGD_ID:2290099 11746152 FAS Fas cell surface death receptor gene DOID:4450 renal cell carcinoma ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:missense mutations:exon PMID:12460460|REF_RGD_ID:2290131 11746152 FAS Fas cell surface death receptor gene DOID:4450 renal cell carcinoma ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:10654915|REF_RGD_ID:2290133 11746152 FAS Fas cell surface death receptor gene DOID:4450 renal cell carcinoma ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:11435457|REF_RGD_ID:2290132 11746152 FAS Fas cell surface death receptor gene DOID:4692 endophthalmitis ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:retinal ganglion cell, bipolar cell of retina, photoreceptor (rat) PMID:19039600|REF_RGD_ID:8662445 11746152 FAS Fas cell surface death receptor gene DOID:4752 multiple system atrophy ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:precentral gyrus (human) PMID:23372841|REF_RGD_ID:8663486 11746152 FAS Fas cell surface death receptor gene DOID:4914 esophagus adenocarcinoma ISO RGD:1346266 D RGD:9068941 20200609 RGD associated with Barrett Esophagus;protein:increased expression:esophageal mucosa (human) PMID:10340890|REF_RGD_ID:8662425 11746152 FAS Fas cell surface death receptor gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:11003620|REF_RGD_ID:14700701 11746152 FAS Fas cell surface death receptor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:10200468|REF_RGD_ID:11049451 11746152 FAS Fas cell surface death receptor gene DOID:5327 retinal detachment ISO RGD:619831 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina PMID:15557468|REF_RGD_ID:1600357 11746152 FAS Fas cell surface death receptor gene DOID:5327 retinal detachment treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:17923548|REF_RGD_ID:8662409 11746152 FAS Fas cell surface death receptor gene DOID:576 proteinuria ISO RGD:1346266 D RGD:9068941 20210813 CTD CTD Direct Evidence: marker/mechanism PMID:26590112|PMID:33632240 11746152 FAS Fas cell surface death receptor gene DOID:6000 congestive heart failure ISO RGD:1346266 D RGD:9068941 20200609 RGD mRNA:splice variant:heart left ventricle (human) PMID:9367848|REF_RGD_ID:8686420 11746152 FAS Fas cell surface death receptor gene DOID:6000 congestive heart failure treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:29746994|REF_RGD_ID:13792577 11746152 FAS Fas cell surface death receptor gene DOID:612 primary immunodeficiency disease ISO RGD:1346266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:18948840|PMID:21490157|PMID:25741868|PMID:27789675|PMID:28492532|PMID:32499645 11746152 FAS Fas cell surface death receptor gene DOID:630 genetic disease ISO RGD:1346266 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21490157|PMID:25741868|PMID:28492532 11746152 FAS Fas cell surface death receptor gene DOID:6376 hypersplenism ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15877736 11746152 FAS Fas cell surface death receptor gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1346266 D RGD:7240710 20180130 OMIM 11746152 FAS Fas cell surface death receptor gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1346266 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10090885|PMID:10515860|PMID:10875918|PMID:1090885|PMID:11830507|PMID:12657942|PMID:15459302|PMID:15459303|PMID:16199547|PMID:16537120|PMID:17576681|PMID:17999750|PMID:18223337|PMID:18948840|PMID:20301287|PMID:20682655|PMID:20935634|PMID:21183795|PMID:2149015|PMID:21490157|PMID:21625619|PMID:22237435|PMID:22752343|PMID:22983577|PMID:23407489|PMID:24033266|PMID:24728327|PMID:25502423|PMID:25741868|PMID:26563159|PMID:27789675|PMID:28492532|PMID:28668589|PMID:32499645|PMID:32888943|PMID:33816397|PMID:34573280|PMID:4852259|PMID:7540117|PMID:9028321|PMID:9028957|PMID:9533447|PMID:9536098|PMID:9821419|PMID:9927496 11746152 FAS Fas cell surface death receptor gene DOID:684 hepatocellular carcinoma ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:11274632|REF_RGD_ID:14700677 11746152 FAS Fas cell surface death receptor gene DOID:684 hepatocellular carcinoma ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:29634416|REF_RGD_ID:13792608 11746152 FAS Fas cell surface death receptor gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:30737368|REF_RGD_ID:14700700 11746152 FAS Fas cell surface death receptor gene DOID:687 hepatoblastoma ISO RGD:1346266 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 11746152 FAS Fas cell surface death receptor gene DOID:7148 rheumatoid arthritis ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:20875116|REF_RGD_ID:12903969 11746152 FAS Fas cell surface death receptor gene DOID:7148 rheumatoid arthritis ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:12148596|REF_RGD_ID:8662455 11746152 FAS Fas cell surface death receptor gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-670A>G (human) PMID:23053964|REF_RGD_ID:8662433 11746152 FAS Fas cell surface death receptor gene DOID:74 hematopoietic system disease ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15877736 11746152 FAS Fas cell surface death receptor gene DOID:768 retinoblastoma severity ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:decreased expression:tumor (human) PMID:14533029|REF_RGD_ID:8662811 11746152 FAS Fas cell surface death receptor gene DOID:83 cataract ISO RGD:1346266 D RGD:9068941 20200609 RGD associated with Diabetic Retinopathy; mRNA,protein:increased expression:epithelial cell PMID:12658358|REF_RGD_ID:2315757 11746152 FAS Fas cell surface death receptor gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:promoter: -670 G>A, -1377 G>A (human) PMID:26563376|REF_RGD_ID:11049146 11746152 FAS Fas cell surface death receptor gene DOID:8568 infectious mononucleosis ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:monocyte, neutrophil, serum: PMID:11185989|REF_RGD_ID:11049152 11746152 FAS Fas cell surface death receptor gene DOID:8577 ulcerative colitis treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:30122878|REF_RGD_ID:13792562 11746152 FAS Fas cell surface death receptor gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:10776692|REF_RGD_ID:11049162 11746152 FAS Fas cell surface death receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:17703359|PMID:29738767|REF_RGD_ID:13792580|REF_RGD_ID:2290176 11746152 FAS Fas cell surface death receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:cervical spinal cord PMID:17518537|REF_RGD_ID:2290177 11746152 FAS Fas cell surface death receptor gene DOID:9000081 Lymphatic Metastasis susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms;DNA:polymorphism:promoter:-1377G>A PMID:18068525|REF_RGD_ID:2298509 11746152 FAS Fas cell surface death receptor gene DOID:9000099 Experimental Colitis treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:22368862|REF_RGD_ID:10054108 11746152 FAS Fas cell surface death receptor gene DOID:9000117 Esophageal Neoplasms ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:decreased expression:esophageal mucosa: PMID:9605741|REF_RGD_ID:11049151 11746152 FAS Fas cell surface death receptor gene DOID:9000855 Experimental Radiation Injuries ISO RGD:619831 D RGD:9068941 20200609 RGD mRNA:increased expression:testis (rat) PMID:9927315|REF_RGD_ID:8662886 11746152 FAS Fas cell surface death receptor gene DOID:9000918 Disease Progression ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11594583 11746152 FAS Fas cell surface death receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:1346266 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:decreased expression:breast PMID:17352235|REF_RGD_ID:2290053 11746152 FAS Fas cell surface death receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:1552455 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms;protein:decreased expression:lung PMID:17918178|REF_RGD_ID:2290048 11746152 FAS Fas cell surface death receptor gene DOID:9000996 Chest Trauma ISO RGD:619831 D RGD:9068941 20200609 RGD protein:decreased expression:alveolar macrophage (rat) PMID:21330946|REF_RGD_ID:8663480 11746152 FAS Fas cell surface death receptor gene DOID:9000998 Brain Injuries ISO RGD:1552455 D RGD:9068941 20200609 RGD associated with Hyperoxia PMID:19107989|REF_RGD_ID:8662854 11746152 FAS Fas cell surface death receptor gene DOID:9000998 Brain Injuries ISO RGD:619831 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:16078565|REF_RGD_ID:1600354 11746152 FAS Fas cell surface death receptor gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:lymphocyte: PMID:26429926|REF_RGD_ID:14700711 11746152 FAS Fas cell surface death receptor gene DOID:9001472 Nasal Polyps ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:decreased expression:nasal polyp (human) PMID:15283292|REF_RGD_ID:8662435 11746152 FAS Fas cell surface death receptor gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:1346266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 PMID:28492532 11746152 FAS Fas cell surface death receptor gene DOID:9001553 Spinal Cord Compression ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord: PMID:21490053|REF_RGD_ID:12904017 11746152 FAS Fas cell surface death receptor gene DOID:9001553 Spinal Cord Compression ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:16202410|REF_RGD_ID:8663485 11746152 FAS Fas cell surface death receptor gene DOID:9001553 Spinal Cord Compression treatment ISO RGD:1346266 D RGD:9068941 20200609 RGD human protein in a rat model PMID:16689665|REF_RGD_ID:1582444 11746152 FAS Fas cell surface death receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30737368 11746152 FAS Fas cell surface death receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:619831 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:17105443|REF_RGD_ID:2290284 11746152 FAS Fas cell surface death receptor gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30737368 11746152 FAS Fas cell surface death receptor gene DOID:9001661 Taste Disorders ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22536412 11746152 FAS Fas cell surface death receptor gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11809923 11746152 FAS Fas cell surface death receptor gene DOID:9002159 Liver Reperfusion Injury ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:17235585|REF_RGD_ID:2290283 11746152 FAS Fas cell surface death receptor gene DOID:9002159 Liver Reperfusion Injury ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:16222447|REF_RGD_ID:1600351 11746152 FAS Fas cell surface death receptor gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:18561025|REF_RGD_ID:14700680 11746152 FAS Fas cell surface death receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:1346266 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:kidney PMID:17851466|REF_RGD_ID:2315705 11746152 FAS Fas cell surface death receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:1346266 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:18287563|REF_RGD_ID:2312739 11746152 FAS Fas cell surface death receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:619831 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:renal distal tubule (rat) PMID:12861046|REF_RGD_ID:8686421 11746152 FAS Fas cell surface death receptor gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:12901972|REF_RGD_ID:11049461 11746152 FAS Fas cell surface death receptor gene DOID:9002231 Fetal Growth Retardation ISO RGD:1346266 D RGD:9068941 20200609 RGD associated with protein:increased expression:serum: PMID:16169656|REF_RGD_ID:12904025 11746152 FAS Fas cell surface death receptor gene DOID:9002231 Fetal Growth Retardation susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD associated with Pre-Eclampsia;DNA:SNP:promoter:-670A>G (human) PMID:15695771|REF_RGD_ID:12903973 11746152 FAS Fas cell surface death receptor gene DOID:9002283 Experimental Allergic Asthma treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:29713367|REF_RGD_ID:13792581 11746152 FAS Fas cell surface death receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:18265979|REF_RGD_ID:2290046 11746152 FAS Fas cell surface death receptor gene DOID:9002371 Cardiotoxicity ISO RGD:1346266 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34713381 11746152 FAS Fas cell surface death receptor gene DOID:9002395 Hypothermia ISO RGD:619831 D RGD:9068941 20200609 RGD associated with Ischemic Attack, Transient; protein:decreased expression:brain (rat) PMID:18410517|REF_RGD_ID:2311437 11746152 FAS Fas cell surface death receptor gene DOID:9002720 Splenomegaly ISO RGD:1346266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868|PMID:28492532 11746152 FAS Fas cell surface death receptor gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:1552455 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:17102953|REF_RGD_ID:12903974 11746152 FAS Fas cell surface death receptor gene DOID:9002928 Colonic Neoplasms resistance ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression PMID:15796164|REF_RGD_ID:1600355 11746152 FAS Fas cell surface death receptor gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:21843499|REF_RGD_ID:9587791 11746152 FAS Fas cell surface death receptor gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:12148596|REF_RGD_ID:8662455 11746152 FAS Fas cell surface death receptor gene DOID:9003867 Lymphomatoid Papulosis ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11594583 11746152 FAS Fas cell surface death receptor gene DOID:9004009 Reperfusion Injury treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:29568770|REF_RGD_ID:13792595 11746152 FAS Fas cell surface death receptor gene DOID:9004038 Kashin-Beck Disease ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:articular cartilage, chondrocyte PMID:16511931|REF_RGD_ID:10054094 11746152 FAS Fas cell surface death receptor gene DOID:9004484 Sepsis ISO RGD:619831 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:17899301|REF_RGD_ID:2290175 11746152 FAS Fas cell surface death receptor gene DOID:9004590 Acute Liver Failure ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12828076 11746152 FAS Fas cell surface death receptor gene DOID:9004590 Acute Liver Failure ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:28060213|REF_RGD_ID:14700678 11746152 FAS Fas cell surface death receptor gene DOID:9004590 Acute Liver Failure ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:hepatocyte: PMID:10950056|REF_RGD_ID:14700697 11746152 FAS Fas cell surface death receptor gene DOID:9004590 Acute Liver Failure ISO RGD:1552455 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:25601293|REF_RGD_ID:14700667 11746152 FAS Fas cell surface death receptor gene DOID:9004590 Acute Liver Failure treatment ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:25601293|REF_RGD_ID:14700667 11746152 FAS Fas cell surface death receptor gene DOID:9004610 Acute Lung Injury ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11778176 11746152 FAS Fas cell surface death receptor gene DOID:9005144 Autoimmune Lymphoproliferative Syndrome, Type IA ISO RGD:1346266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1a PMID:10090885|PMID:10200300|PMID:10515860|PMID:10709732|PMID:15459302|PMID:15459303|PMID:18223337|PMID:18948840|PMID:20935634|PMID:21490157|PMID:22237435|PMID:23407489|PMID:28492532|PMID:4165068|PMID:4852259|PMID:7539157|PMID:7540117|PMID:8929361|PMID:9028321|PMID:9533447|PMID:9821419|PMID:9927496 11746152 FAS Fas cell surface death receptor gene DOID:9005172 Lung Neoplasms ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 11746152 FAS Fas cell surface death receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:18094967|REF_RGD_ID:2290047 11746152 FAS Fas cell surface death receptor gene DOID:9005627 Metabolic Brain Diseases ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, neuron; associated with diabetes mellitus, insulin-dependent PMID:15777748|REF_RGD_ID:1600356 11746152 FAS Fas cell surface death receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 11746152 FAS Fas cell surface death receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:heart ventricle PMID:19820199|REF_RGD_ID:2314021 11746152 FAS Fas cell surface death receptor gene DOID:9005643 Experimental Diabetes Mellitus onset ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:20004692|REF_RGD_ID:2315698 11746152 FAS Fas cell surface death receptor gene DOID:9005647 Experimental Autoimmune Uveitis susceptibility ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:11067900|REF_RGD_ID:8662852 11746152 FAS Fas cell surface death receptor gene DOID:9005749 Necrosis ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15664267 11746152 FAS Fas cell surface death receptor gene DOID:9005930 Endotoxemia ISO RGD:619831 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spleen (rat) PMID:20428798|REF_RGD_ID:8662930 11746152 FAS Fas cell surface death receptor gene DOID:9006205 Animal Disease Models ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22536412|PMID:26590112 11746152 FAS Fas cell surface death receptor gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:29285062|REF_RGD_ID:13792599 11746152 FAS Fas cell surface death receptor gene DOID:9006411 Testicular Injury ISO RGD:1346266 D RGD:9068941 20200609 RGD mRNA:increased expression:testis (rat) PMID:9112408|REF_RGD_ID:8662900 11746152 FAS Fas cell surface death receptor gene DOID:9006832 Puromycin Aminonucleoside Nephrosis ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus, renal interstitium, renal tubule PMID:16152783|REF_RGD_ID:1600352 11746152 FAS Fas cell surface death receptor gene DOID:9006890 Chronic Uveitis severity ISO RGD:1346266 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;protein:increased expression:peripheral blood, CD8-Positive T-Lymphocytes (human) PMID:8814751|REF_RGD_ID:8662442 11746152 FAS Fas cell surface death receptor gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:1346266 D RGD:9068941 20201218 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:26541527|REF_RGD_ID:40902860 11746152 FAS Fas cell surface death receptor gene DOID:9007355 Hashimoto Disease severity ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood, CD8-Positive T-Lymphocytes (human) PMID:15242568|REF_RGD_ID:8662824 11746152 FAS Fas cell surface death receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:16831245|REF_RGD_ID:8662853 11746152 FAS Fas cell surface death receptor gene DOID:9007480 Hyperoxia ISO RGD:619831 D RGD:9068941 20200609 RGD mRNA:increased expression:thalamus, cerebral cortex (rat) PMID:19107989|REF_RGD_ID:8662854 11746152 FAS Fas cell surface death receptor gene DOID:9007480 Hyperoxia susceptibility ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:19107989|REF_RGD_ID:8662854 11746152 FAS Fas cell surface death receptor gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:1552455 D RGD:9068941 20200609 RGD protein:increased expression:Kupffer cell: PMID:15797225|REF_RGD_ID:14700708 11746152 FAS Fas cell surface death receptor gene DOID:9007558 Acute Experimental Pancreatitis severity ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:15797225|REF_RGD_ID:14700708 11746152 FAS Fas cell surface death receptor gene DOID:9007692 Insulin Resistance treatment ISO RGD:619831 D RGD:9068941 20200609 RGD associated with hypothalamic disease PMID:29522769|REF_RGD_ID:13792596 11746152 FAS Fas cell surface death receptor gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:21316771|REF_RGD_ID:8686424 11746152 FAS Fas cell surface death receptor gene DOID:9007900 Multisystemic Smooth Muscle Dysfunction Syndrome ISO RGD:1346266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome 11746152 FAS Fas cell surface death receptor gene DOID:9008022 Temporomandibular Joint Osteoarthritis ISO RGD:619831 D RGD:9068941 20200609 RGD mRNA:increased expression:mandibular condyle, cartilage (rat) PMID:23934157|REF_RGD_ID:8663479 11746152 FAS Fas cell surface death receptor gene DOID:9008614 Cardiovascular Pregnancy Complications ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10716473 11746152 FAS Fas cell surface death receptor gene DOID:9008691 Liver Injury treatment ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:30737368|REF_RGD_ID:14700700 11746152 FAS Fas cell surface death receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:T lymphocyte: PMID:7531628|REF_RGD_ID:11049450 11746152 FAS Fas cell surface death receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9182923|REF_RGD_ID:8662437 11746152 FAS Fas cell surface death receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:1552455 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 11746152 FAS Fas cell surface death receptor gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:snps:promoter:g.-1377G>A, g.-670A>G (human) PMID:23053964|REF_RGD_ID:8662433 11746152 FAS Fas cell surface death receptor gene DOID:9119 acute myeloid leukemia ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7579353 11746152 FAS Fas cell surface death receptor gene DOID:9119 acute myeloid leukemia ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:8870373|REF_RGD_ID:11049452 11746152 FAS Fas cell surface death receptor gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype:promoter:-1377 G>A, -670 G>A (human) PMID:12907599|REF_RGD_ID:11049150 11746152 FAS Fas cell surface death receptor gene DOID:9206 Barrett's esophagus severity ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:10821489|REF_RGD_ID:12903968 11746152 FAS Fas cell surface death receptor gene DOID:9282 ocular hypertension ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:retina, microglial cell PMID:17045251|REF_RGD_ID:1600312 11746152 FAS Fas cell surface death receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 11746152 FAS Fas cell surface death receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:insulin-secreting cells PMID:19120316|REF_RGD_ID:2315742 11746152 FAS Fas cell surface death receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:9254659|REF_RGD_ID:2315754 11746152 FAS Fas cell surface death receptor gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:CD34+ bone marrow cell PMID:9711907|REF_RGD_ID:11049157 11746152 FAS Fas cell surface death receptor gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:10500800|REF_RGD_ID:11049148 11746152 FAS Fas cell surface death receptor gene DOID:9976 heroin dependence ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:14530904|REF_RGD_ID:8686423 11746172 CEP152 centrosomal protein 152 gene DOID:0050569 Seckel syndrome ISO RGD:1604825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seckel syndrome PMID:24033266|PMID:25741868 11746172 CEP152 centrosomal protein 152 gene DOID:0070007 Seckel syndrome 1 ISO RGD:1604825 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21131973 11746172 CEP152 centrosomal protein 152 gene DOID:0070012 Seckel syndrome 5 ISO RGD:1604825 D RGD:7240710 20180130 OMIM 11746172 CEP152 centrosomal protein 152 gene DOID:0070012 Seckel syndrome 5 ISO RGD:1604825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CEP152-Related Disorders | ClinVar Annotator: match by term: Seckel syndrome 5 PMID:17576681|PMID:18414213|PMID:20598275|PMID:21131973|PMID:25741868|PMID:25996639|PMID:28492532|PMID:9536098 11746172 CEP152 centrosomal protein 152 gene DOID:0070292 primary autosomal recessive microcephaly 9 ISO RGD:1604825 D RGD:7240710 20180130 OMIM 11746172 CEP152 centrosomal protein 152 gene DOID:0070292 primary autosomal recessive microcephaly 9 ISO RGD:1604825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly 9, primary, autosomal recessive PMID:18414213|PMID:20598275|PMID:21131973|PMID:24033266|PMID:25741868|PMID:25996639|PMID:28492532|PMID:34402213 11746172 CEP152 centrosomal protein 152 gene DOID:10907 microcephaly ISO RGD:1604825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary Microcephaly, Recessive 11746172 CEP152 centrosomal protein 152 gene DOID:14323 Marfan syndrome ISO RGD:1604825 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:17492313|PMID:17657824|PMID:19293843|PMID:28492532 11746172 CEP152 centrosomal protein 152 gene DOID:2717 Bloom syndrome ISO RGD:1604825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11746172 CEP152 centrosomal protein 152 gene DOID:630 genetic disease ISO RGD:1604825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 11746172 CEP152 centrosomal protein 152 gene DOID:9256 colorectal cancer ISO RGD:1604825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11746213 HNRNPK heterogeneous nuclear ribonucleoprotein K gene DOID:10283 prostate cancer ISO RGD:733485 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland (human) PMID:19401687|REF_RGD_ID:10054425 11746213 HNRNPK heterogeneous nuclear ribonucleoprotein K gene DOID:10300 Raynaud disease ISO RGD:733485 D RGD:9068941 20221007 RGD PMID:25172934|REF_RGD_ID:155260370 11746213 HNRNPK heterogeneous nuclear ribonucleoprotein K gene DOID:1059 intellectual disability ISO RGD:733485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11746213 HNRNPK heterogeneous nuclear ribonucleoprotein K gene DOID:332 amyotrophic lateral sclerosis ISO RGD:733486 D RGD:9068941 20200609 RGD protein:decreased expression:lumbar spinal cord ventral horn, astrocyte (mouse) PMID:19323997|REF_RGD_ID:10058964 11746213 HNRNPK heterogeneous nuclear ribonucleoprotein K gene DOID:630 genetic disease ISO RGD:733485 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26173930|PMID:36130591 11746213 HNRNPK heterogeneous nuclear ribonucleoprotein K gene DOID:9000612 Cardiac Allograft Vasculopathy ISO RGD:733485 D RGD:9068941 20221007 RGD PMID:21489814|REF_RGD_ID:155260371 11746213 HNRNPK heterogeneous nuclear ribonucleoprotein K gene DOID:9002234 Pituitary Neoplasms ISO RGD:71058 D RGD:9068941 20200609 RGD mRNA:decreased expression:pituitary gland (rat) PMID:12716410|REF_RGD_ID:10058970 11746213 HNRNPK heterogeneous nuclear ribonucleoprotein K gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:733486 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland (mouse) PMID:22015967|REF_RGD_ID:10054424 11746213 HNRNPK heterogeneous nuclear ribonucleoprotein K gene DOID:9003837 Au-Kline Syndrome ISO RGD:733485 D RGD:7240710 20180130 OMIM 11746213 HNRNPK heterogeneous nuclear ribonucleoprotein K gene DOID:9003837 Au-Kline Syndrome ISO RGD:733485 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: AU-KLINE SYNDROME PMID:18414213|PMID:25741868|PMID:26173930|PMID:26220823|PMID:26954065|PMID:28374925|PMID:28771707|PMID:29904177|PMID:30998304|PMID:36130591 11746213 HNRNPK heterogeneous nuclear ribonucleoprotein K gene DOID:9005603 Muscle Hypotonia ISO RGD:733485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868 11746213 HNRNPK heterogeneous nuclear ribonucleoprotein K gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:71058 D RGD:9068941 20200609 RGD PMID:16837467|REF_RGD_ID:10002795 11746213 HNRNPK heterogeneous nuclear ribonucleoprotein K gene DOID:9005775 Perinatal Asphyxia treatment ISO RGD:71058 D RGD:9068941 20221013 RGD PMID:33951501|REF_RGD_ID:155269042 11746213 HNRNPK heterogeneous nuclear ribonucleoprotein K gene DOID:9008939 Breast Neoplasms ISO RGD:733485 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 11746213 HNRNPK heterogeneous nuclear ribonucleoprotein K gene DOID:9256 colorectal cancer severity ISO RGD:733485 D RGD:9068941 20200609 RGD protein:increased expression:colonic epithelium, cytoplasm (human) PMID:21194727|REF_RGD_ID:9999439 11746213 HNRNPK heterogeneous nuclear ribonucleoprotein K gene DOID:936 brain disease ISO RGD:733485 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 11746266 DVL1 dishevelled segment polarity protein 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:733042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11746266 DVL1 dishevelled segment polarity protein 1 gene DOID:0060254 Robinow syndrome ISO RGD:733042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11746266 DVL1 dishevelled segment polarity protein 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:733042 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11746266 DVL1 dishevelled segment polarity protein 1 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:733042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11746266 DVL1 dishevelled segment polarity protein 1 gene DOID:0060765 autosomal dominant Robinow syndrome 2 ISO RGD:733042 D RGD:7240710 20180130 OMIM 11746266 DVL1 dishevelled segment polarity protein 1 gene DOID:0060765 autosomal dominant Robinow syndrome 2 ISO RGD:733042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 PMID:10319206|PMID:23806086|PMID:24088041|PMID:25045061|PMID:25741868|PMID:25817014|PMID:25817016|PMID:26924530|PMID:28492532|PMID:29276006 11746266 DVL1 dishevelled segment polarity protein 1 gene DOID:0060766 autosomal dominant Robinow syndrome 1 ISO RGD:733042 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 PMID:25045061|PMID:25741868|PMID:25817014|PMID:28492532 11746266 DVL1 dishevelled segment polarity protein 1 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:733042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11746266 DVL1 dishevelled segment polarity protein 1 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:733042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11746266 DVL1 dishevelled segment polarity protein 1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:733042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11746266 DVL1 dishevelled segment polarity protein 1 gene DOID:0111934 immunodeficiency 38 ISO RGD:733042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11746266 DVL1 dishevelled segment polarity protein 1 gene DOID:0111935 immunodeficiency 16 ISO RGD:733042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11746266 DVL1 dishevelled segment polarity protein 1 gene DOID:11198 DiGeorge syndrome ISO RGD:733042 D RGD:9068941 20200609 RGD PMID:8644734|REF_RGD_ID:1580898 11746266 DVL1 dishevelled segment polarity protein 1 gene DOID:150 disease of mental health ISO RGD:733043 D RGD:9068941 20200609 RGD PMID:9298901|REF_RGD_ID:734906 11746266 DVL1 dishevelled segment polarity protein 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:733042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11746266 DVL1 dishevelled segment polarity protein 1 gene DOID:5844 myocardial infarction ISO RGD:620632 D RGD:9068941 20200609 RGD PMID:15256074|REF_RGD_ID:1580899 11746266 DVL1 dishevelled segment polarity protein 1 gene DOID:630 genetic disease ISO RGD:733042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28166811|PMID:28492532 11746266 DVL1 dishevelled segment polarity protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11746266 DVL1 dishevelled segment polarity protein 1 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:733042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11746266 DVL1 dishevelled segment polarity protein 1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:733042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11746289 MYBBP1A MYB binding protein 1a gene DOID:12849 autistic disorder ISO RGD:69133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 11746289 MYBBP1A MYB binding protein 1a gene DOID:630 genetic disease ISO RGD:69133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746289 MYBBP1A MYB binding protein 1a gene DOID:9002304 Prostatic Neoplasms ISO RGD:69133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11746319 LOC100992901 olfactory receptor 4F6 gene DOID:630 genetic disease ISO RGD:1343983 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746320 STEAP3 STEAP3 metalloreductase gene DOID:0080600 COVID-19 ISO RGD:1605372 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11746320 STEAP3 STEAP3 metalloreductase gene DOID:630 genetic disease ISO RGD:1605372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11746320 STEAP3 STEAP3 metalloreductase gene DOID:9001631 Hypochromic Microcytic Anemia with Iron Overload ISO RGD:1605372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11746320 STEAP3 STEAP3 metalloreductase gene DOID:9008190 Hypochromic Microcytic Anemia with Iron Overload 2 ISO RGD:1605372 D RGD:7240710 20180130 OMIM 11746320 STEAP3 STEAP3 metalloreductase gene DOID:9008190 Hypochromic Microcytic Anemia with Iron Overload 2 ISO RGD:1605372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypochromic microcytic anemia with iron overload 2 PMID:22031863 11746329 LOC100994669 cytochrome c oxidase assembly factor 8 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1312327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11746329 LOC100994669 cytochrome c oxidase assembly factor 8 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1312327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:25175347|PMID:25741868|PMID:28492532 11746329 LOC100994669 cytochrome c oxidase assembly factor 8 gene DOID:630 genetic disease ISO RGD:1312327 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11746329 LOC100994669 cytochrome c oxidase assembly factor 8 gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1312327 D RGD:7240710 20201111 OMIM 11746329 LOC100994669 cytochrome c oxidase assembly factor 8 gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1312327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:28492532|PMID:29577824|PMID:30724636 11746329 LOC100994669 cytochrome c oxidase assembly factor 8 gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:1312327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:25175347|PMID:25741868|PMID:28492532 11746338 DTWD1 DTW domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1604324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11746338 DTWD1 DTW domain containing 1 gene DOID:630 genetic disease ISO RGD:1604324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746338 DTWD1 DTW domain containing 1 gene DOID:9256 colorectal cancer ISO RGD:1604324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11746347 FBL fibrillarin gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1313628 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11746347 FBL fibrillarin gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1313628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11746347 FBL fibrillarin gene DOID:1342 congenital hypoplastic anemia ISO RGD:1313628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11746347 FBL fibrillarin gene DOID:2340 craniosynostosis ISO RGD:1313628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11746347 FBL fibrillarin gene DOID:3910 lung adenocarcinoma ISO RGD:1313628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11746347 FBL fibrillarin gene DOID:417 autoimmune disease ISO RGD:1313628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19077085|PMID:8738957|PMID:9693280 11746347 FBL fibrillarin gene DOID:630 genetic disease ISO RGD:1313628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746347 FBL fibrillarin gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1313628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11746347 FBL fibrillarin gene DOID:9006205 Animal Disease Models ISO RGD:1313628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11746347 FBL fibrillarin gene DOID:9008939 Breast Neoplasms ISO RGD:1313628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 11746347 FBL fibrillarin gene DOID:9269 maple syrup urine disease ISO RGD:1313628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11746347 FBL fibrillarin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1313628 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11746373 DDX50 DExD-box helicase 50 gene DOID:10283 prostate cancer ISO RGD:1322118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11746373 DDX50 DExD-box helicase 50 gene DOID:630 genetic disease ISO RGD:1322118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746396 C1H1orf216 chromosome 1 C1orf216 homolog gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1602984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11746396 C1H1orf216 chromosome 1 C1orf216 homolog gene DOID:630 genetic disease ISO RGD:1602984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746422 NME1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:0080600 COVID-19 ISO RGD:735393 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11746422 NME1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:10286 prostate carcinoma ISO RGD:735393 D RGD:9068941 20200611 RGD PMID:8618340|REF_RGD_ID:2299063 11746422 NME1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:11054 urinary bladder cancer ISO RGD:735393 D RGD:9068941 20200611 RGD mRNA:increased expression:urinary bladder PMID:7614395|REF_RGD_ID:2299071 11746422 NME1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:735393 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:9527842 11746422 NME1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:1612 breast cancer disease_progression ISO RGD:735393 D RGD:9068941 20200611 RGD PMID:8605098|REF_RGD_ID:2299064 11746422 NME1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:1749 squamous cell carcinoma severity ISO RGD:735393 D RGD:9068941 20200611 RGD protein:decreased expression:tumor (human) PMID:8978595|REF_RGD_ID:5133245 11746422 NME1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:2152 ovary epithelial cancer ISO RGD:735393 D RGD:9068941 20200611 RGD DNA:deletion PMID:7622307|REF_RGD_ID:2299069 11746422 NME1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:2394 ovarian cancer ISO RGD:735393 D RGD:9068941 20200611 RGD protein:increased expression:endometrium PMID:8519661|REF_RGD_ID:2299066 11746422 NME1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:735393 D RGD:9068941 20200611 RGD PMID:8636741|REF_RGD_ID:2299065 11746422 NME1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:3307 teratoma ISO RGD:735393 D RGD:9068941 20200611 RGD DNA:deletion PMID:7518576|REF_RGD_ID:2299072 11746422 NME1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:3459 breast carcinoma ISO RGD:735393 D RGD:9068941 20200611 RGD PMID:9036878|REF_RGD_ID:2299061 11746422 NME1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:735393 D RGD:9068941 20200611 RGD protein:increased expression:pancreas (human) PMID:17492507|REF_RGD_ID:5132867 11746422 NME1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:735393 D RGD:9068941 20200611 RGD PMID:9663430|REF_RGD_ID:2299059 11746422 NME1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:630 genetic disease ISO RGD:735393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746422 NME1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735393 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11746422 NME1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:769 neuroblastoma ISO RGD:735393 D RGD:9068941 20200611 RGD PMID:8047138|REF_RGD_ID:1600229 11746422 NME1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:735393 D RGD:9068941 20200611 RGD associated with Breast Neoplasms PMID:8102131|PMID:9036878|REF_RGD_ID:2299061|REF_RGD_ID:2299077 11746422 NME1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:735393 D RGD:9068941 20200611 RGD associated with Cervix Neoplasms; associated with Endometrial Neoplasms PMID:8855975|REF_RGD_ID:2299062 11746422 NME1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735393 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:15928304 11746422 NME1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735393 D RGD:9068941 20200611 RGD associated with Ovarian Neoplasms PMID:7622307|REF_RGD_ID:2299069 11746422 NME1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:9002669 Hypoxia ISO RGD:735393 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 11746422 NME1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:9003936 Cardiomegaly ISO RGD:70497 D RGD:9068941 20200611 RGD protein:increased expression:heart, plasma membrane (rat) PMID:14559858|REF_RGD_ID:5132887 11746422 NME1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735393 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 11746422 NME1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:735393 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 11746464 CDS2 CDP-diacylglycerol synthase 2 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:731362 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11746464 CDS2 CDP-diacylglycerol synthase 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:731362 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11746464 CDS2 CDP-diacylglycerol synthase 2 gene DOID:630 genetic disease ISO RGD:731362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746488 USP39 ubiquitin specific peptidase 39 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1317682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 11746488 USP39 ubiquitin specific peptidase 39 gene DOID:630 genetic disease ISO RGD:1317682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746488 USP39 ubiquitin specific peptidase 39 gene DOID:9002170 Experimental Neoplasms ISO RGD:1317682 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34822033 11746488 USP39 ubiquitin specific peptidase 39 gene DOID:9002928 Colonic Neoplasms ISO RGD:1317682 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34822033 11746506 EFNA4 ephrin A4 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1317216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11746506 EFNA4 ephrin A4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1317216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11746506 EFNA4 ephrin A4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1317216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11746506 EFNA4 ephrin A4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1317216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11746506 EFNA4 ephrin A4 gene DOID:1540 parathyroid carcinoma ISO RGD:1317216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11746506 EFNA4 ephrin A4 gene DOID:5812 MHC class II deficiency ISO RGD:1317216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11746506 EFNA4 ephrin A4 gene DOID:630 genetic disease ISO RGD:1317216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746506 EFNA4 ephrin A4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11746523 MRPS5 mitochondrial ribosomal protein S5 gene DOID:3910 lung adenocarcinoma ISO RGD:1318020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11746523 MRPS5 mitochondrial ribosomal protein S5 gene DOID:630 genetic disease ISO RGD:1318020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746523 MRPS5 mitochondrial ribosomal protein S5 gene DOID:9006205 Animal Disease Models ISO RGD:1318020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11746539 HIBCH 3-hydroxyisobutyryl-CoA hydrolase gene DOID:0111944 immunodeficiency 31B ISO RGD:1318134 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 11746539 HIBCH 3-hydroxyisobutyryl-CoA hydrolase gene DOID:630 genetic disease ISO RGD:1318134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17160907|PMID:25741868|PMID:27896122|PMID:28492532|PMID:32677093 11746539 HIBCH 3-hydroxyisobutyryl-CoA hydrolase gene DOID:8398 osteoarthritis ISO RGD:1318134 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11746539 HIBCH 3-hydroxyisobutyryl-CoA hydrolase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11746539 HIBCH 3-hydroxyisobutyryl-CoA hydrolase gene DOID:9008784 Beta-Hydroxyisobutyryl CoA Deacylase Deficiency ISO RGD:1318134 D RGD:7240710 20180130 OMIM 11746539 HIBCH 3-hydroxyisobutyryl-CoA hydrolase gene DOID:9008784 Beta-Hydroxyisobutyryl CoA Deacylase Deficiency ISO RGD:1318134 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiency | ClinVar Annotator: match by term: Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency PMID:16199547|PMID:17160907|PMID:17576681|PMID:24033266|PMID:24299452|PMID:25251209|PMID:25591832|PMID:25741868|PMID:26026795|PMID:26163321|PMID:27435318|PMID:27896122|PMID:28454995|PMID:28492532|PMID:29703962|PMID:30111474|PMID:32022391|PMID:32677093|PMID:33762937|PMID:7122152|PMID:9536098 11746567 CPT1A carnitine palmitoyltransferase 1A gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:735945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29289645 11746567 CPT1A carnitine palmitoyltransferase 1A gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:10390 D RGD:9068941 20200609 RGD PMID:31211621|REF_RGD_ID:14747028 11746567 CPT1A carnitine palmitoyltransferase 1A gene DOID:0090129 carnitine palmitoyltransferase I deficiency ISO RGD:735945 D RGD:7240710 20180130 OMIM 11746567 CPT1A carnitine palmitoyltransferase 1A gene DOID:0090129 carnitine palmitoyltransferase I deficiency ISO RGD:735945 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1A deficiency PMID:11350182|PMID:11350183|PMID:11441142|PMID:12111367|PMID:12189492|PMID:12351641|PMID:14517221|PMID:15110323|PMID:16146704|PMID:16169268|PMID:16199547|PMID:16958601|PMID:17576681|PMID:19181627|PMID:19217814|PMID:19345525|PMID:20301700|PMID:20696606|PMID:21253826|PMID:21763168|PMID:21962599|PMID:23090344|PMID:23430491|PMID:23700290|PMID:24033266|PMID:24847810|PMID:25449608|PMID:25640679|PMID:25741868|PMID:26010953|PMID:26820065|PMID:27066452|PMID:27341449|PMID:28125087|PMID:28468868|PMID:28492532|PMID:29519241|PMID:30101502|PMID:31319225|PMID:32088118|PMID:32561900|PMID:32781271|PMID:33845545|PMID:34131458|PMID:35360862|PMID:9048718|PMID:9536098|PMID:9691089 11746567 CPT1A carnitine palmitoyltransferase 1A gene DOID:1059 intellectual disability ISO RGD:735945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11746567 CPT1A carnitine palmitoyltransferase 1A gene DOID:12351 alcoholic hepatitis treatment ISO RGD:2396 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 11746567 CPT1A carnitine palmitoyltransferase 1A gene DOID:3146 lipid metabolism disorder ISO RGD:735945 D RGD:9068941 20200609 RGD CPT IA deficiency, OMIM:255120, D454G PMID:9691089|REF_RGD_ID:1600732 11746567 CPT1A carnitine palmitoyltransferase 1A gene DOID:3319 lymphangioleiomyomatosis ISO RGD:735945 D RGD:9068941 20220630 RGD protein:increased expression:lung (human) PMID:29885404|REF_RGD_ID:152995523 11746567 CPT1A carnitine palmitoyltransferase 1A gene DOID:630 genetic disease ISO RGD:735945 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16169268|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11746567 CPT1A carnitine palmitoyltransferase 1A gene DOID:783 end stage renal disease ISO RGD:735945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 11746567 CPT1A carnitine palmitoyltransferase 1A gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:735945 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11746567 CPT1A carnitine palmitoyltransferase 1A gene DOID:9004017 Chronic Hepatitis C ISO RGD:735945 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver hepatocytes PMID:15685545|REF_RGD_ID:5683635 11746567 CPT1A carnitine palmitoyltransferase 1A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 11746567 CPT1A carnitine palmitoyltransferase 1A gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:735945 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11746567 CPT1A carnitine palmitoyltransferase 1A gene DOID:9008939 Breast Neoplasms ISO RGD:735945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 11746567 CPT1A carnitine palmitoyltransferase 1A gene DOID:9351 diabetes mellitus ISO RGD:735945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233164 11746567 CPT1A carnitine palmitoyltransferase 1A gene DOID:9352 type 2 diabetes mellitus ISO RGD:2396 D RGD:9068941 20200609 RGD PMID:19553925|REF_RGD_ID:2311344 11746567 CPT1A carnitine palmitoyltransferase 1A gene DOID:9352 type 2 diabetes mellitus ISO RGD:735945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 11746567 CPT1A carnitine palmitoyltransferase 1A gene DOID:9970 obesity ISO RGD:2396 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:16751799|REF_RGD_ID:2311345 11746592 FGF20 fibroblast growth factor 20 gene DOID:0060892 late onset Parkinson's disease ISO RGD:731457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:18252210|PMID:19133659 11746592 FGF20 fibroblast growth factor 20 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:731457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 11746592 FGF20 fibroblast growth factor 20 gene DOID:630 genetic disease ISO RGD:731457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746592 FGF20 fibroblast growth factor 20 gene DOID:9005509 Renal Hypodysplasia/Aplasia 2 ISO RGD:731457 D RGD:7240710 20180130 OMIM 11746592 FGF20 fibroblast growth factor 20 gene DOID:9005509 Renal Hypodysplasia/Aplasia 2 ISO RGD:731457 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 2 PMID:22698282|PMID:25741868|PMID:28492532 11746600 MIOX myo-inositol oxygenase gene DOID:0060041 autism spectrum disorder ISO RGD:737368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 11746600 MIOX myo-inositol oxygenase gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:737368 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 11746600 MIOX myo-inositol oxygenase gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:737368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11746600 MIOX myo-inositol oxygenase gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:737368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 11746600 MIOX myo-inositol oxygenase gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:737368 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 11746600 MIOX myo-inositol oxygenase gene DOID:10581 metachromatic leukodystrophy ISO RGD:737368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 11746600 MIOX myo-inositol oxygenase gene DOID:1059 intellectual disability ISO RGD:737368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11746600 MIOX myo-inositol oxygenase gene DOID:630 genetic disease ISO RGD:737368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746622 LOC100972169 olfactory receptor 8D4 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1319573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11746622 LOC100972169 olfactory receptor 8D4 gene DOID:5419 schizophrenia ISO RGD:1319573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11746622 LOC100972169 olfactory receptor 8D4 gene DOID:630 genetic disease ISO RGD:1319573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746622 LOC100972169 olfactory receptor 8D4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1319573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11746622 LOC100972169 olfactory receptor 8D4 gene DOID:9007661 Dwarfism ISO RGD:1319573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11746627 CTF1 cardiotrophin 1 gene DOID:0050700 cardiomyopathy ISO RGD:1350898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 11746627 CTF1 cardiotrophin 1 gene DOID:0060611 abdominal obesity-metabolic syndrome ISO RGD:736471 D RGD:9068941 20220825 MouseDO 11746627 CTF1 cardiotrophin 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1350898 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11058912|PMID:24033266|PMID:26084686|PMID:28492532 11746627 CTF1 cardiotrophin 1 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1350898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11746627 CTF1 cardiotrophin 1 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1350898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 11746627 CTF1 cardiotrophin 1 gene DOID:10763 hypertension ISO RGD:1350898 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15716706|REF_RGD_ID:1626411 11746627 CTF1 cardiotrophin 1 gene DOID:10763 hypertension ISO RGD:2442 D RGD:9068941 20200917 RGD mRNA:increased expression:cardiac ventricle PMID:8604995|REF_RGD_ID:69823 11746627 CTF1 cardiotrophin 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1350898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 11746627 CTF1 cardiotrophin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1350898 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11058912|PMID:24033266|PMID:25741868|PMID:26084686|PMID:27149842|PMID:28492532 11746627 CTF1 cardiotrophin 1 gene DOID:557 kidney disease ISO RGD:1350898 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23335628 11746627 CTF1 cardiotrophin 1 gene DOID:630 genetic disease ISO RGD:1350898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11746627 CTF1 cardiotrophin 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:1350898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21803294 11746627 CTF1 cardiotrophin 1 gene DOID:9003936 Cardiomegaly ISO RGD:1350898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18400235|PMID:19100119 11746627 CTF1 cardiotrophin 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1350898 D RGD:9068941 20200917 RGD associated with hypertension;protein:increased expression:plasma PMID:15716706|REF_RGD_ID:1626411 11746627 CTF1 cardiotrophin 1 gene DOID:9005749 Necrosis ISO RGD:1350898 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23335628 11746627 CTF1 cardiotrophin 1 gene DOID:9006024 Hypotension ISO RGD:1350898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11304496 11746627 CTF1 cardiotrophin 1 gene DOID:9007692 Insulin Resistance ISO RGD:1350898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21803294 11746627 CTF1 cardiotrophin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736471 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 11746627 CTF1 cardiotrophin 1 gene DOID:9970 obesity ISO RGD:1350898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21803294 11746635 TRIL TLR4 interactor with leucine rich repeats gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:4143834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11746635 TRIL TLR4 interactor with leucine rich repeats gene DOID:630 genetic disease ISO RGD:4143834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746653 ELF3 E74 like ETS transcription factor 3 gene DOID:0050625 biliary tract benign neoplasm ISO RGD:1321734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26258846 11746653 ELF3 E74 like ETS transcription factor 3 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1321734 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11746653 ELF3 E74 like ETS transcription factor 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1321734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11746653 ELF3 E74 like ETS transcription factor 3 gene DOID:630 genetic disease ISO RGD:1321734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746653 ELF3 E74 like ETS transcription factor 3 gene DOID:9000310 Lung Injury ISO RGD:1321734 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21709667 11746653 ELF3 E74 like ETS transcription factor 3 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1321734 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11746653 ELF3 E74 like ETS transcription factor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11746669 GRID2IP Grid2 interacting protein gene DOID:10652 Alzheimer's disease ISO RGD:1351156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early onset PMID:25741868 11746669 GRID2IP Grid2 interacting protein gene DOID:630 genetic disease ISO RGD:1351156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746696 RAD51B RAD51 paralog B gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1344706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 11746696 RAD51B RAD51 paralog B gene DOID:303 substance-related disorder ISO RGD:1344706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11746696 RAD51B RAD51 paralog B gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344706 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:26898890|PMID:28492532|PMID:32566746 11746696 RAD51B RAD51 paralog B gene DOID:630 genetic disease ISO RGD:1344706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746696 RAD51B RAD51 paralog B gene DOID:9000357 Male Breast Neoplasms ISO RGD:1344706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23001122 11746696 RAD51B RAD51 paralog B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344706 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:24139550|PMID:25741868|PMID:26845104|PMID:26898890|PMID:28492532 11746696 RAD51B RAD51 paralog B gene DOID:9008939 Breast Neoplasms ISO RGD:1344706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19330030 11746711 PTGFR prostaglandin F receptor gene DOID:2661 myoepithelioma ISO RGD:737369 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11746711 PTGFR prostaglandin F receptor gene DOID:289 endometriosis ISO RGD:737369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25446850 11746711 PTGFR prostaglandin F receptor gene DOID:630 genetic disease ISO RGD:737369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746711 PTGFR prostaglandin F receptor gene DOID:9005700 Airway Obstruction ISO RGD:737369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1219628 11746722 LAMP3 lysosomal associated membrane protein 3 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1317407 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11746722 LAMP3 lysosomal associated membrane protein 3 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1317407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11746722 LAMP3 lysosomal associated membrane protein 3 gene DOID:0111546 Currarino syndrome ISO RGD:1317407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11746722 LAMP3 lysosomal associated membrane protein 3 gene DOID:630 genetic disease ISO RGD:1317407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746722 LAMP3 lysosomal associated membrane protein 3 gene DOID:9001488 Human Influenza ISO RGD:1317407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11746732 CHMP2A charged multivesicular body protein 2A gene DOID:630 genetic disease ISO RGD:1603659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746748 MREG melanoregulin gene DOID:630 genetic disease ISO RGD:1604338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746748 MREG melanoregulin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11746760 SLC35D1 solute carrier family 35 member D1 gene DOID:0050775 schneckenbecken dysplasia ISO RGD:1320404 D RGD:7240710 20180130 OMIM 11746760 SLC35D1 solute carrier family 35 member D1 gene DOID:0050775 schneckenbecken dysplasia ISO RGD:1320404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Schneckenbecken dysplasia PMID:16199547|PMID:17576681|PMID:17952091|PMID:19508970|PMID:25741868|PMID:28492532|PMID:9536098 11746760 SLC35D1 solute carrier family 35 member D1 gene DOID:1059 intellectual disability ISO RGD:1320404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11746760 SLC35D1 solute carrier family 35 member D1 gene DOID:630 genetic disease ISO RGD:1320404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11746760 SLC35D1 solute carrier family 35 member D1 gene DOID:65 connective tissue disease ISO RGD:1320404 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 11746760 SLC35D1 solute carrier family 35 member D1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 11746785 XPNPEP3 X-prolyl aminopeptidase 3 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1603202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11746785 XPNPEP3 X-prolyl aminopeptidase 3 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1603202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 11746785 XPNPEP3 X-prolyl aminopeptidase 3 gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:1603202 D RGD:7240710 20180130 OMIM 11746785 XPNPEP3 X-prolyl aminopeptidase 3 gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:1603202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis-Like Nephropathy | ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 PMID:16199547|PMID:17576681|PMID:20179356|PMID:21068128|PMID:25741868|PMID:28492532|PMID:32660933|PMID:9536098 11746785 XPNPEP3 X-prolyl aminopeptidase 3 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1603202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:15706485|PMID:24476420|PMID:28492532 11746785 XPNPEP3 X-prolyl aminopeptidase 3 gene DOID:557 kidney disease ISO RGD:1603202 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 11746785 XPNPEP3 X-prolyl aminopeptidase 3 gene DOID:630 genetic disease ISO RGD:1603202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11746814 C2CD6 C2 calcium dependent domain containing 6 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1345082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11746814 C2CD6 C2 calcium dependent domain containing 6 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1345082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11746814 C2CD6 C2 calcium dependent domain containing 6 gene DOID:0110983 Joubert syndrome 14 ISO RGD:1345082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 14 PMID:22152675|PMID:28492532 11746814 C2CD6 C2 calcium dependent domain containing 6 gene DOID:10283 prostate cancer ISO RGD:1345082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11746814 C2CD6 C2 calcium dependent domain containing 6 gene DOID:630 genetic disease ISO RGD:1345082 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746814 C2CD6 C2 calcium dependent domain containing 6 gene DOID:9000182 Spermatogenic Failure 68 ISO RGD:1345082 D RGD:7240710 20220330 OMIM 11746814 C2CD6 C2 calcium dependent domain containing 6 gene DOID:9000182 Spermatogenic Failure 68 ISO RGD:1345082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 68 PMID:31985809 11746814 C2CD6 C2 calcium dependent domain containing 6 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1345082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 11746814 C2CD6 C2 calcium dependent domain containing 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11746814 C2CD6 C2 calcium dependent domain containing 6 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1345082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11746837 LINC02694 long intergenic non-protein coding RNA 2694 gene DOID:2717 Bloom syndrome ISO RGD:1601684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11746837 LINC02694 long intergenic non-protein coding RNA 2694 gene DOID:9007799 Legius Syndrome ISO RGD:1601684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Legius syndrome PMID:21548021|PMID:22753041|PMID:28492532 11746837 LINC02694 long intergenic non-protein coding RNA 2694 gene DOID:9256 colorectal cancer ISO RGD:1601684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11746843 ZNF16 zinc finger protein 16 gene DOID:630 genetic disease ISO RGD:1342906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746849 SLC25A15 solute carrier family 25 member 15 gene DOID:0050720 ornithine translocase deficiency ISO RGD:1322973 D RGD:7240710 20180130 OMIM 11746849 SLC25A15 solute carrier family 25 member 15 gene DOID:0050720 ornithine translocase deficiency ISO RGD:1322973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome PMID:10369256|PMID:10805333|PMID:11355015|PMID:11552031|PMID:11668643|PMID:12807890|PMID:14759633|PMID:16199547|PMID:16376511|PMID:16601889|PMID:16940241|PMID:17576681|PMID:17825324|PMID:18376250|PMID:18406340|PMID:18666241|PMID:18978333|PMID:19242930|PMID:22292090|PMID:22649802|PMID:23430880|PMID:24473688|PMID:25741868|PMID:25818551|PMID:25874378|PMID:26589310|PMID:28492532|PMID:29554876|PMID:30187369|PMID:30243302|PMID:31443672|PMID:31589614|PMID:32214227|PMID:32340404|PMID:3407856|PMID:9536098 11746849 SLC25A15 solute carrier family 25 member 15 gene DOID:1059 intellectual disability ISO RGD:1322973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 11746849 SLC25A15 solute carrier family 25 member 15 gene DOID:630 genetic disease ISO RGD:1322973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16601889|PMID:19242930|PMID:25741868|PMID:25874378|PMID:26589310|PMID:28492532|PMID:30187369|PMID:30243302 11746849 SLC25A15 solute carrier family 25 member 15 gene DOID:9008972 Hyperammonemia ISO RGD:1322973 D RGD:9068941 20200609 RGD PMID:10369256|PMID:10805333|REF_RGD_ID:1599239|REF_RGD_ID:1599240 11746849 SLC25A15 solute carrier family 25 member 15 gene DOID:9252 amino acid metabolic disorder ISO RGD:1322973 D RGD:9068941 20200609 RGD PMID:10369256|PMID:10805333|REF_RGD_ID:1599239|REF_RGD_ID:1599240 11746849 SLC25A15 solute carrier family 25 member 15 gene DOID:9273 citrullinemia ISO RGD:1322973 D RGD:9068941 20200609 RGD PMID:10369256|PMID:10805333|REF_RGD_ID:1599239|REF_RGD_ID:1599240 11746864 SERP2 stress associated endoplasmic reticulum protein family member 2 gene DOID:630 genetic disease ISO RGD:1346471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746868 FCGR2B Fc gamma receptor IIb gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1346227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 11746868 FCGR2B Fc gamma receptor IIb gene DOID:0080162 lupus nephritis ISO RGD:1332447 D RGD:9068941 20200609 RGD PMID:15681388|REF_RGD_ID:7240529 11746868 FCGR2B Fc gamma receptor IIb gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1346227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11746868 FCGR2B Fc gamma receptor IIb gene DOID:1037 lymphoid leukemia treatment ISO RGD:1346227 D RGD:9068941 20200609 RGD PMID:20705761|REF_RGD_ID:11344969 11746868 FCGR2B Fc gamma receptor IIb gene DOID:1227 neutropenia ISO RGD:1346227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10848805 11746868 FCGR2B Fc gamma receptor IIb gene DOID:12365 malaria ISO RGD:1346227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malaria, resistance to PMID:12115230|PMID:15459183|PMID:16115811|PMID:16170323|PMID:17435165|PMID:20385827 11746868 FCGR2B Fc gamma receptor IIb gene DOID:12365 malaria susceptibility ISO RGD:1346227 D RGD:7240710 20190502 OMIM 11746868 FCGR2B Fc gamma receptor IIb gene DOID:1540 parathyroid carcinoma ISO RGD:1346227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11746868 FCGR2B Fc gamma receptor IIb gene DOID:1936 atherosclerosis ISO RGD:1332447 D RGD:9068941 20200609 RGD PMID:17053192|REF_RGD_ID:7240526 11746868 FCGR2B Fc gamma receptor IIb gene DOID:2237 hepatitis severity ISO RGD:1332447 D RGD:9068941 20200609 RGD PMID:17322382|REF_RGD_ID:11344954 11746868 FCGR2B Fc gamma receptor IIb gene DOID:2841 asthma ISO RGD:1332447 D RGD:9068941 20200609 RGD PMID:20179765|REF_RGD_ID:11344929 11746868 FCGR2B Fc gamma receptor IIb gene DOID:2921 glomerulonephritis ISO RGD:1346227 D RGD:9068941 20200609 RGD PMID:19640933|REF_RGD_ID:5508403 11746868 FCGR2B Fc gamma receptor IIb gene DOID:417 autoimmune disease ISO RGD:1332447 D RGD:9068941 20200609 RGD PMID:18390752|REF_RGD_ID:7240525 11746868 FCGR2B Fc gamma receptor IIb gene DOID:417 autoimmune disease ISO RGD:1346227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10848805 11746868 FCGR2B Fc gamma receptor IIb gene DOID:630 genetic disease ISO RGD:1346227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746868 FCGR2B Fc gamma receptor IIb gene DOID:783 end stage renal disease ISO RGD:1346227 D RGD:9068941 20200609 RGD PMID:15266033|REF_RGD_ID:7240530 11746868 FCGR2B Fc gamma receptor IIb gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1346227 D RGD:9068941 20200609 RGD DNA:SNP: :p.I232T (human) PMID:19549396|REF_RGD_ID:11344927 11746868 FCGR2B Fc gamma receptor IIb gene DOID:8924 autoimmune thrombocytopenic purpura disease_progression ISO RGD:1346227 D RGD:9068941 20200609 RGD DNA:SNP: :p.I232T (human) PMID:15566359|REF_RGD_ID:11344928 11746868 FCGR2B Fc gamma receptor IIb gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:1332447 D RGD:9068941 20200609 RGD PMID:21045192|PMID:22257295|REF_RGD_ID:11344931|REF_RGD_ID:11344955 11746868 FCGR2B Fc gamma receptor IIb gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:1346227 D RGD:9068941 20200609 RGD PMID:21131591|REF_RGD_ID:11040933 11746868 FCGR2B Fc gamma receptor IIb gene DOID:9002457 Experimental Arthritis ISO RGD:1332447 D RGD:9068941 20200609 RGD PMID:23341540|REF_RGD_ID:11344930 11746868 FCGR2B Fc gamma receptor IIb gene DOID:9004610 Acute Lung Injury treatment ISO RGD:631331 D RGD:9068941 20200609 RGD PMID:19106808|REF_RGD_ID:5147925 11746868 FCGR2B Fc gamma receptor IIb gene DOID:9007398 Phospholipidosis ISO RGD:631331 D RGD:9068941 20200609 RGD mRNA:increased expression:heart, blood PMID:25580480|REF_RGD_ID:11344961 11746868 FCGR2B Fc gamma receptor IIb gene DOID:9074 systemic lupus erythematosus ISO RGD:1346227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to PMID:12115230|PMID:15459183|PMID:15895258|PMID:16115811|PMID:16170323|PMID:17435165|PMID:20385827 11746868 FCGR2B Fc gamma receptor IIb gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:1346227 D RGD:9068941 20200609 RGD DNA:SNPs:exon, intron:10849T>C (rs1050501), 10950T>G (rs6666965) (human) PMID:26084639|REF_RGD_ID:11056171 11746868 FCGR2B Fc gamma receptor IIb gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1346227 D RGD:9068941 20200609 RGD DNA:SNP:intron:11045G>T (rs12117530) (human) PMID:26084639|REF_RGD_ID:11056171 11746868 FCGR2B Fc gamma receptor IIb gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1346227 D RGD:7240710 20230505 OMIM 11746868 FCGR2B Fc gamma receptor IIb gene DOID:9074 systemic lupus erythematosus treatment ISO RGD:1332447 D RGD:9068941 20200609 RGD PMID:18156625|PMID:20530521|REF_RGD_ID:9588566|REF_RGD_ID:9588603 11746868 FCGR2B Fc gamma receptor IIb gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11746878 RBMXL3 RBMX like 3 gene DOID:0060165 Kleine-Levin syndrome ISO RGD:2303888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kleine-Levin syndrome 11746878 RBMXL3 RBMX like 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:2303888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11746878 RBMXL3 RBMX like 3 gene DOID:11476 osteoporosis ISO RGD:2303888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 PMID:24088041|PMID:26633545 11746878 RBMXL3 RBMX like 3 gene DOID:12849 autistic disorder ISO RGD:2303888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11746878 RBMXL3 RBMX like 3 gene DOID:5419 schizophrenia ISO RGD:2303888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11746878 RBMXL3 RBMX like 3 gene DOID:630 genetic disease ISO RGD:2303888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746888 SCGB1D4 secretoglobin family 1D member 4 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606365 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11746888 SCGB1D4 secretoglobin family 1D member 4 gene DOID:1059 intellectual disability ISO RGD:1606365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11746888 SCGB1D4 secretoglobin family 1D member 4 gene DOID:630 genetic disease ISO RGD:1606365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746896 PNP purine nucleoside phosphorylase gene DOID:0080600 COVID-19 ISO RGD:1349909 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11746896 PNP purine nucleoside phosphorylase gene DOID:11476 osteoporosis ISO RGD:1349909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 11746896 PNP purine nucleoside phosphorylase gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1349909 D RGD:7240710 20180130 OMIM 11746896 PNP purine nucleoside phosphorylase gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1349909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:11453975|PMID:12483996|PMID:1384322|PMID:15571269|PMID:1560016|PMID:16199547|PMID:17407325|PMID:17576681|PMID:19759001|PMID:22132981|PMID:22578971|PMID:22669887|PMID:24033266|PMID:24767876|PMID:25741868|PMID:28492532|PMID:3029074|PMID:30778343|PMID:31130284|PMID:32514656|PMID:32695102|PMID:8931706|PMID:9067751|PMID:9536098|PMID:9737781 11746896 PNP purine nucleoside phosphorylase gene DOID:627 severe combined immunodeficiency ISO RGD:1349909 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:1384322|PMID:22132981|PMID:25741868|PMID:28492532|PMID:9067751 11746896 PNP purine nucleoside phosphorylase gene DOID:653 purine-pyrimidine metabolic disorder ISO RGD:1349909 D RGD:9068941 20200609 RGD nucleoside phosphorylase deficiency, OMIM:164050 PMID:3029074|REF_RGD_ID:1600263 11746896 PNP purine nucleoside phosphorylase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 11746896 PNP purine nucleoside phosphorylase gene DOID:9007964 Arsenic Poisoning ISO RGD:1349909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18414634 11746906 SNCB synuclein beta gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:733869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11746906 SNCB synuclein beta gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:733869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11746906 SNCB synuclein beta gene DOID:0112103 Sotos syndrome 1 ISO RGD:733869 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11746906 SNCB synuclein beta gene DOID:10652 Alzheimer's disease ISO RGD:733869 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:11578596|REF_RGD_ID:6480194 11746906 SNCB synuclein beta gene DOID:11870 Pick's disease ISO RGD:733869 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus PMID:12410393|REF_RGD_ID:6480200 11746906 SNCB synuclein beta gene DOID:12217 Lewy body dementia ISO RGD:733869 D RGD:7240710 20180130 OMIM 11746906 SNCB synuclein beta gene DOID:12217 Lewy body dementia ISO RGD:733869 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lewy body dementia PMID:15365127|PMID:21045828|PMID:25741868|PMID:26332674|PMID:31589614|PMID:33760043 11746906 SNCB synuclein beta gene DOID:13141 uveitis ISO RGD:70992 D RGD:9068941 20200609 RGD PMID:12496452|REF_RGD_ID:730073 11746906 SNCB synuclein beta gene DOID:14330 Parkinson's disease ISO RGD:733869 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:10557341|REF_RGD_ID:6480095 11746906 SNCB synuclein beta gene DOID:14330 Parkinson's disease onset ISO RGD:733869 D RGD:9068941 20200609 RGD DNA:SNP: :rs1352303(human) PMID:17556099|REF_RGD_ID:6478793 11746906 SNCB synuclein beta gene DOID:3321 GM2 gangliosidosis ISO RGD:736763 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:12657883|REF_RGD_ID:6480199 11746906 SNCB synuclein beta gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:733869 D RGD:9068941 20200609 RGD PMID:10934140|REF_RGD_ID:6480098 11746906 SNCB synuclein beta gene DOID:630 genetic disease ISO RGD:733869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746906 SNCB synuclein beta gene DOID:8761 acute megakaryocytic leukemia ISO RGD:733869 D RGD:9068941 20200609 RGD PMID:21264917|REF_RGD_ID:6478703 11746906 SNCB synuclein beta gene DOID:9000998 Brain Injuries ISO RGD:736763 D RGD:9068941 20200609 RGD PMID:14637093|REF_RGD_ID:6480195 11746906 SNCB synuclein beta gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:70992 D RGD:9068941 20200609 RGD PMID:12496452|REF_RGD_ID:730073 11746906 SNCB synuclein beta gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:733869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11746906 SNCB synuclein beta gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:733869 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 11746925 AFAP1L2 actin filament associated protein 1 like 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1321706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29059373 11746925 AFAP1L2 actin filament associated protein 1 like 2 gene DOID:630 genetic disease ISO RGD:1321706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746925 AFAP1L2 actin filament associated protein 1 like 2 gene DOID:9620 vesicoureteral reflux ISO RGD:1321706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vesicoureteral reflux PMID:29351342 11746958 RGS5 regulator of G protein signaling 5 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:730866 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs15049) C>A (human) PMID:27354594|REF_RGD_ID:152177496 11746958 RGS5 regulator of G protein signaling 5 gene DOID:10763 hypertension ISO RGD:730866 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1798635 11746958 RGS5 regulator of G protein signaling 5 gene DOID:10763 hypertension treatment ISO RGD:3568 D RGD:9068941 20200609 RGD PMID:21825230|REF_RGD_ID:7207400 11746958 RGS5 regulator of G protein signaling 5 gene DOID:10825 essential hypertension ISO RGD:730866 D RGD:7240710 20180130 OMIM 11746958 RGS5 regulator of G protein signaling 5 gene DOID:1540 parathyroid carcinoma ISO RGD:730866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11746958 RGS5 regulator of G protein signaling 5 gene DOID:630 genetic disease ISO RGD:730866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11746958 RGS5 regulator of G protein signaling 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11746958 RGS5 regulator of G protein signaling 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11746967 SLC25A22 solute carrier family 25 member 22 gene DOID:0050562 West syndrome ISO RGD:1317247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive PMID:28492532 11746967 SLC25A22 solute carrier family 25 member 22 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1317247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:15592994|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19780765|PMID:25033742|PMID:25741868|PMID:26467025|PMID:27843123|PMID:28255779|PMID:28492532|PMID:9536098 11746967 SLC25A22 solute carrier family 25 member 22 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1317247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:15592994|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19780765|PMID:25033742|PMID:25741868|PMID:26467025|PMID:27843123|PMID:27864847|PMID:28255779|PMID:28454995|PMID:28492532|PMID:31589614|PMID:9536098 11746967 SLC25A22 solute carrier family 25 member 22 gene DOID:0050729 neutral lipid storage disease ISO RGD:1317247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 11746967 SLC25A22 solute carrier family 25 member 22 gene DOID:0080440 developmental and epileptic encephalopathy 3 ISO RGD:1317247 D RGD:7240710 20180130 OMIM 11746967 SLC25A22 solute carrier family 25 member 22 gene DOID:0080440 developmental and epileptic encephalopathy 3 ISO RGD:1317247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 3 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 3 PMID:15592994|PMID:18414213|PMID:19780765|PMID:24596948|PMID:25033742|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31589614 11746967 SLC25A22 solute carrier family 25 member 22 gene DOID:0080773 delta beta-thalassemia ISO RGD:1317247 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11746967 SLC25A22 solute carrier family 25 member 22 gene DOID:0111969 immunodeficiency 39 ISO RGD:1317247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11746967 SLC25A22 solute carrier family 25 member 22 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1317247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:15592994|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19780765|PMID:25033742|PMID:25741868|PMID:26467025|PMID:27843123|PMID:27864847|PMID:28255779|PMID:28454995|PMID:28492532|PMID:31589614|PMID:9536098 11746967 SLC25A22 solute carrier family 25 member 22 gene DOID:10283 prostate cancer ISO RGD:1317247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11746967 SLC25A22 solute carrier family 25 member 22 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1317247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11746967 SLC25A22 solute carrier family 25 member 22 gene DOID:1826 epilepsy ISO RGD:1317247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532 11746967 SLC25A22 solute carrier family 25 member 22 gene DOID:1826 epilepsy ISO RGD:1317247 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11746967 SLC25A22 solute carrier family 25 member 22 gene DOID:308 early myoclonic encephalopathy ISO RGD:1317247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:15592994|PMID:18414213|PMID:19780765|PMID:25033742|PMID:25741868|PMID:26467025|PMID:27843123|PMID:27864847|PMID:28454995|PMID:28492532 11746967 SLC25A22 solute carrier family 25 member 22 gene DOID:630 genetic disease ISO RGD:1317247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:25741868|PMID:26467025|PMID:27843123|PMID:28492532|PMID:9536098 11746967 SLC25A22 solute carrier family 25 member 22 gene DOID:9003816 Macrocephaly ISO RGD:1317247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868|PMID:28492532 11746967 SLC25A22 solute carrier family 25 member 22 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1317247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11746967 SLC25A22 solute carrier family 25 member 22 gene DOID:9008086 Developmental Disabilities ISO RGD:1317247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:25741868|PMID:28492532 11747007 RGS18 regulator of G protein signaling 18 gene DOID:1540 parathyroid carcinoma ISO RGD:1315187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11747007 RGS18 regulator of G protein signaling 18 gene DOID:630 genetic disease ISO RGD:1315187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747007 RGS18 regulator of G protein signaling 18 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1315187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:28774260 11747007 RGS18 regulator of G protein signaling 18 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11747016 FFAR3 free fatty acid receptor 3 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1322276 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11747016 FFAR3 free fatty acid receptor 3 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1322276 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11747016 FFAR3 free fatty acid receptor 3 gene DOID:10825 essential hypertension ISO RGD:1322276 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 11747016 FFAR3 free fatty acid receptor 3 gene DOID:543 dystonia ISO RGD:1322276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11747016 FFAR3 free fatty acid receptor 3 gene DOID:630 genetic disease ISO RGD:1322276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747022 KLK1 kallikrein 1 gene DOID:0050700 cardiomyopathy ISO RGD:1349866 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:15117887|REF_RGD_ID:1641802 11747022 KLK1 kallikrein 1 gene DOID:10763 hypertension ISO RGD:1349866 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14568997 11747022 KLK1 kallikrein 1 gene DOID:10763 hypertension ISO RGD:1349866 D RGD:9068941 20200609 RGD PMID:17272402|REF_RGD_ID:1641794 11747022 KLK1 kallikrein 1 gene DOID:10763 hypertension ISO RGD:2969 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:15809361|REF_RGD_ID:1358144 11747022 KLK1 kallikrein 1 gene DOID:10763 hypertension no_association ISO RGD:1349866 D RGD:9068941 20200609 RGD PMID:15167446|REF_RGD_ID:1581751 11747022 KLK1 kallikrein 1 gene DOID:10763 hypertension susceptibility ISO RGD:1349866 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:15905889|REF_RGD_ID:1641795 11747022 KLK1 kallikrein 1 gene DOID:3021 acute kidney failure ISO RGD:1349866 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18227104 11747022 KLK1 kallikrein 1 gene DOID:4989 pancreatitis ISO RGD:2969 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:12770935|REF_RGD_ID:1641805 11747022 KLK1 kallikrein 1 gene DOID:5844 myocardial infarction ISO RGD:1349866 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12411458 11747022 KLK1 kallikrein 1 gene DOID:5844 myocardial infarction ISO RGD:1349866 D RGD:9068941 20200609 RGD PMID:17022964|REF_RGD_ID:1641799 11747022 KLK1 kallikrein 1 gene DOID:630 genetic disease ISO RGD:1349866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747022 KLK1 kallikrein 1 gene DOID:783 end stage renal disease ISO RGD:1349866 D RGD:9068941 20200609 RGD PMID:11849458|REF_RGD_ID:1581753 11747022 KLK1 kallikrein 1 gene DOID:784 chronic kidney disease susceptibility ISO RGD:1349866 D RGD:9068941 20200609 RGD associated with Vesico-Ureteral Reflux PMID:15086490|REF_RGD_ID:1581752 11747022 KLK1 kallikrein 1 gene DOID:9000784 Fibrosis ISO RGD:1349866 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18227104 11747022 KLK1 kallikrein 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1349866 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19516248 11747022 KLK1 kallikrein 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1349866 D RGD:9068941 20200609 RGD PMID:17272402|REF_RGD_ID:1641794 11747022 KLK1 kallikrein 1 gene DOID:9003936 Cardiomegaly ISO RGD:1349866 D RGD:9068941 20200609 RGD PMID:17137568|REF_RGD_ID:1641797 11747022 KLK1 kallikrein 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2969 D RGD:9068941 20200609 RGD PMID:12746231|REF_RGD_ID:1641806 11747022 KLK1 kallikrein 1 gene DOID:9004915 Decreased Urinary Activity of Kallikrein ISO RGD:1349866 D RGD:7240710 20180130 OMIM 11747022 KLK1 kallikrein 1 gene DOID:9004915 Decreased Urinary Activity of Kallikrein ISO RGD:1349866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kallikrein, decreased urinary activity of PMID:11912256|PMID:15765151 11747022 KLK1 kallikrein 1 gene DOID:9005372 Inflammation ISO RGD:2969 D RGD:9068941 20200609 RGD PMID:17015177|REF_RGD_ID:1641800 11747022 KLK1 kallikrein 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2969 D RGD:9068941 20200609 RGD mRNA:decreased expression:myocardium PMID:10604522|REF_RGD_ID:1641812 11747022 KLK1 kallikrein 1 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:1349866 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16129698 11747022 KLK1 kallikrein 1 gene DOID:9007692 Insulin Resistance ISO RGD:1349866 D RGD:9068941 20200609 RGD PMID:17272402|REF_RGD_ID:1641794 11747031 CCDC168 coiled-coil domain containing 168 gene DOID:0110878 holoprosencephaly 5 ISO RGD:4109693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:28492532 11747031 CCDC168 coiled-coil domain containing 168 gene DOID:14701 propionic acidemia ISO RGD:4109693 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 11747031 CCDC168 coiled-coil domain containing 168 gene DOID:630 genetic disease ISO RGD:4109693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747031 CCDC168 coiled-coil domain containing 168 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:4109693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11747031 CCDC168 coiled-coil domain containing 168 gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:4109693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532 11747038 GBP4 guanylate binding protein 4 gene DOID:630 genetic disease ISO RGD:1321567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747038 GBP4 guanylate binding protein 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1321567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11747054 TPRA1 transmembrane protein adipocyte associated 1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1354338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 11747054 TPRA1 transmembrane protein adipocyte associated 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1354338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 11747054 TPRA1 transmembrane protein adipocyte associated 1 gene DOID:9270 alkaptonuria ISO RGD:1354338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11747091 LOC103784763 zinc finger protein 160 gene DOID:630 genetic disease ISO RGD:1602451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747091 LOC103784763 zinc finger protein 160 gene DOID:9000217 Stomach Neoplasms ISO RGD:1602451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 11747091 LOC103784763 zinc finger protein 160 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1602451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 11747113 CLDN22 claudin 22 gene DOID:630 genetic disease ISO RGD:1349320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747153 TM2D3 TM2 domain containing 3 gene DOID:630 genetic disease ISO RGD:1602099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747153 TM2D3 TM2 domain containing 3 gene DOID:9255 frontotemporal dementia ISO RGD:1602099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:25741868 11747164 CCND3 cyclin D3 gene DOID:0050444 infantile Refsum disease ISO RGD:736176 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11747164 CCND3 cyclin D3 gene DOID:10283 prostate cancer disease_progression ISO RGD:736176 D RGD:9068941 20200609 RGD PMID:18317945|REF_RGD_ID:2316009 11747164 CCND3 cyclin D3 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:736176 D RGD:9068941 20200609 RGD PMID:16482499|REF_RGD_ID:2316012 11747164 CCND3 cyclin D3 gene DOID:2893 cervix carcinoma ISO RGD:736176 D RGD:9068941 20200609 RGD PMID:14751136|REF_RGD_ID:2316013 11747164 CCND3 cyclin D3 gene DOID:3008 invasive ductal carcinoma severity ISO RGD:736176 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:11329139|REF_RGD_ID:2316016 11747164 CCND3 cyclin D3 gene DOID:3713 ovary adenocarcinoma disease_progression ISO RGD:736176 D RGD:9068941 20200609 RGD PMID:17885491|REF_RGD_ID:2316011 11747164 CCND3 cyclin D3 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:736176 D RGD:9068941 20200609 RGD PMID:18679818|REF_RGD_ID:2316007 11747164 CCND3 cyclin D3 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:736176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28671688 11747164 CCND3 cyclin D3 gene DOID:630 genetic disease ISO RGD:736176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747164 CCND3 cyclin D3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2293 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:18008145|REF_RGD_ID:2316019 11747164 CCND3 cyclin D3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2293 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:mammary gland PMID:16311245|REF_RGD_ID:2316020 11747164 CCND3 cyclin D3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733443 D RGD:9068941 20200609 RGD PMID:12853979|REF_RGD_ID:2316015 11747164 CCND3 cyclin D3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2293 D RGD:9068941 20200609 RGD protein:increased expression:kidney, glomerulus PMID:19276076|REF_RGD_ID:2316018 11747164 CCND3 cyclin D3 gene DOID:9008939 Breast Neoplasms ISO RGD:736176 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-677C>T (human) PMID:19142864|REF_RGD_ID:2316005 11747164 CCND3 cyclin D3 gene DOID:905 Zellweger syndrome ISO RGD:736176 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11747164 CCND3 cyclin D3 gene DOID:9538 multiple myeloma ISO RGD:736176 D RGD:9068941 20200609 RGD PMID:15755896|REF_RGD_ID:1581171 11747181 TMEM255A transmembrane protein 255A gene DOID:0050437 Danon disease ISO RGD:1605993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 11747181 TMEM255A transmembrane protein 255A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11747181 TMEM255A transmembrane protein 255A gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1605993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 11747181 TMEM255A transmembrane protein 255A gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1605993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 11747181 TMEM255A transmembrane protein 255A gene DOID:12849 autistic disorder ISO RGD:1605993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11747181 TMEM255A transmembrane protein 255A gene DOID:630 genetic disease ISO RGD:1605993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747199 RAPGEF2 Rap guanine nucleotide exchange factor 2 gene DOID:0111694 familial adult myoclonic epilepsy 7 ISO RGD:1315047 D RGD:7240710 20190315 OMIM 11747199 RAPGEF2 Rap guanine nucleotide exchange factor 2 gene DOID:0111694 familial adult myoclonic epilepsy 7 ISO RGD:1315047 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 7 PMID:25741868 11747199 RAPGEF2 Rap guanine nucleotide exchange factor 2 gene DOID:630 genetic disease ISO RGD:1315047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747199 RAPGEF2 Rap guanine nucleotide exchange factor 2 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1315047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29507423 11747232 RASAL2 RAS protein activator like 2 gene DOID:10283 prostate cancer ISO RGD:1316836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11747232 RASAL2 RAS protein activator like 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1316836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11747232 RASAL2 RAS protein activator like 2 gene DOID:630 genetic disease ISO RGD:1316836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747232 RASAL2 RAS protein activator like 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1316836 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34826200 11747232 RASAL2 RAS protein activator like 2 gene DOID:9000918 Disease Progression ISO RGD:1316836 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34826200 11747232 RASAL2 RAS protein activator like 2 gene DOID:9002170 Experimental Neoplasms ISO RGD:1316836 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34826200 11747232 RASAL2 RAS protein activator like 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1316836 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34826200 11747232 RASAL2 RAS protein activator like 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1316836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11747232 RASAL2 RAS protein activator like 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11747254 LOC100974537 olfactory receptor 13H1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11747254 LOC100974537 olfactory receptor 13H1 gene DOID:12849 autistic disorder ISO RGD:1344200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11747254 LOC100974537 olfactory receptor 13H1 gene DOID:630 genetic disease ISO RGD:1344200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747259 ACOT11 acyl-CoA thioesterase 11 gene DOID:630 genetic disease ISO RGD:1317612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747286 PFAS phosphoribosylformylglycinamidine synthase gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1312648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11747286 PFAS phosphoribosylformylglycinamidine synthase gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1312648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22431104|PMID:23172776|PMID:28492532 11747286 PFAS phosphoribosylformylglycinamidine synthase gene DOID:234 colon adenocarcinoma ISO RGD:1312648 D RGD:9068941 20211119 RGD PMID:6722784|REF_RGD_ID:5135276 11747286 PFAS phosphoribosylformylglycinamidine synthase gene DOID:2729 dyskeratosis congenita ISO RGD:1312648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:16199547|PMID:17576681|PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:24115768|PMID:25741868|PMID:28492532|PMID:29111009|PMID:29481669|PMID:9536098 11747286 PFAS phosphoribosylformylglycinamidine synthase gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1312648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 11747286 PFAS phosphoribosylformylglycinamidine synthase gene DOID:3905 lung carcinoma ISO RGD:1614154 D RGD:9068941 20211119 RGD PMID:6722784|REF_RGD_ID:5135276 11747286 PFAS phosphoribosylformylglycinamidine synthase gene DOID:4450 renal cell carcinoma ISO RGD:1312648 D RGD:9068941 20211119 RGD PMID:6722784|REF_RGD_ID:5135276 11747286 PFAS phosphoribosylformylglycinamidine synthase gene DOID:630 genetic disease ISO RGD:1312648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11747286 PFAS phosphoribosylformylglycinamidine synthase gene DOID:684 hepatocellular carcinoma ISO RGD:1304926 D RGD:9068941 20200609 RGD protein:increased activity:hepatoma (rat) PMID:6722784|REF_RGD_ID:5135276 11747286 PFAS phosphoribosylformylglycinamidine synthase gene DOID:684 hepatocellular carcinoma ISO RGD:1312648 D RGD:9068941 20211119 RGD protein:increased expression:liver PMID:6722784|REF_RGD_ID:5135276 11747286 PFAS phosphoribosylformylglycinamidine synthase gene DOID:9003371 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 ISO RGD:1312648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 PMID:22267198|PMID:22387016|PMID:24115768|PMID:25741868|PMID:28492532|PMID:29111009|PMID:29481669 11747286 PFAS phosphoribosylformylglycinamidine synthase gene DOID:9004373 Autosomal Recessive Dyskeratosis Congenita ISO RGD:1312648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive 11747286 PFAS phosphoribosylformylglycinamidine synthase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1304926 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:3043317|REF_RGD_ID:5135485 11747318 SPHKAP SPHK1 interactor, AKAP domain containing gene DOID:6000 congestive heart failure ISO RGD:1604287 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 11747318 SPHKAP SPHK1 interactor, AKAP domain containing gene DOID:630 genetic disease ISO RGD:1604287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747345 RNF14 ring finger protein 14 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605715 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11747345 RNF14 ring finger protein 14 gene DOID:0111510 Marshall syndrome ISO RGD:1605715 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Marshall syndrome PMID:25741868|PMID:28492532 11747345 RNF14 ring finger protein 14 gene DOID:630 genetic disease ISO RGD:1605715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28804758 11747345 RNF14 ring finger protein 14 gene DOID:7765 Coats disease ISO RGD:1605715 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Exudative retinopathy PMID:25741868|PMID:30459466 11747345 RNF14 ring finger protein 14 gene DOID:9002171 Diencephalic-Mesencephalic Junction Dysplasia Syndromes ISO RGD:1605715 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia | ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome PMID:22822038|PMID:25741868|PMID:30178464 11747345 RNF14 ring finger protein 14 gene DOID:9002568 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 ISO RGD:1605715 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 1 PMID:22822038|PMID:25741868|PMID:27164683|PMID:28492532|PMID:29556033|PMID:30178464|PMID:33527719|PMID:7774041 11747345 RNF14 ring finger protein 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 11747345 RNF14 ring finger protein 14 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605715 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11747392 ZNF564 zinc finger protein 564 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1347487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11747392 ZNF564 zinc finger protein 564 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1347487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11747392 ZNF564 zinc finger protein 564 gene DOID:0111254 glutaric acidemia I ISO RGD:1347487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11747392 ZNF564 zinc finger protein 564 gene DOID:3413 alpha-mannosidosis ISO RGD:1347487 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11747392 ZNF564 zinc finger protein 564 gene DOID:630 genetic disease ISO RGD:1347487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747401 GPR52 G protein-coupled receptor 52 gene DOID:1540 parathyroid carcinoma ISO RGD:1353875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11747401 GPR52 G protein-coupled receptor 52 gene DOID:3755 antithrombin III deficiency ISO RGD:1353875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 11747401 GPR52 G protein-coupled receptor 52 gene DOID:630 genetic disease ISO RGD:1353875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747401 GPR52 G protein-coupled receptor 52 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1353875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 11747401 GPR52 G protein-coupled receptor 52 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11747406 LCOR ligand dependent nuclear receptor corepressor gene DOID:10283 prostate cancer ISO RGD:1603601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11747406 LCOR ligand dependent nuclear receptor corepressor gene DOID:630 genetic disease ISO RGD:1603601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747425 KAT2B lysine acetyltransferase 2B gene DOID:0060417 3p deletion syndrome ISO RGD:1314209 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 11747425 KAT2B lysine acetyltransferase 2B gene DOID:1612 breast cancer severity ISO RGD:1314209 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:22199269|REF_RGD_ID:9586031 11747425 KAT2B lysine acetyltransferase 2B gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1314209 D RGD:9068941 20200609 RGD mRNA:decreased expression:esophagus (human) PMID:19525977|REF_RGD_ID:9590307 11747425 KAT2B lysine acetyltransferase 2B gene DOID:630 genetic disease ISO RGD:1314209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747425 KAT2B lysine acetyltransferase 2B gene DOID:684 hepatocellular carcinoma severity ISO RGD:1314209 D RGD:9068941 20200609 RGD protein:decreased expression:liver (human) PMID:23643089|REF_RGD_ID:9590314 11747425 KAT2B lysine acetyltransferase 2B gene DOID:7148 rheumatoid arthritis ISO RGD:1314209 D RGD:9068941 20230105 RGD mRNA:increased expression:peripheral blood mononuclear cell PMID:36104638|REF_RGD_ID:155791669 11747425 KAT2B lysine acetyltransferase 2B gene DOID:9000528 Coronary Disease severity ISO RGD:1314209 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-2481G>C (human) PMID:21062767|REF_RGD_ID:9590309 11747448 DGKQ diacylglycerol kinase theta gene DOID:12894 Sjogren's syndrome ISO RGD:1318208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 11747448 DGKQ diacylglycerol kinase theta gene DOID:1856 cherubism ISO RGD:1318208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11747448 DGKQ diacylglycerol kinase theta gene DOID:630 genetic disease ISO RGD:1318208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747448 DGKQ diacylglycerol kinase theta gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1318208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 11747477 SELENOM selenoprotein M gene DOID:630 genetic disease ISO RGD:1603181 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747477 SELENOM selenoprotein M gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11747488 ELF1 E74 like ETS transcription factor 1 gene DOID:0080600 COVID-19 ISO RGD:734281 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11747488 ELF1 E74 like ETS transcription factor 1 gene DOID:630 genetic disease ISO RGD:734281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747513 SCIN scinderin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11747513 SCIN scinderin gene DOID:630 genetic disease ISO RGD:1350815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747533 ERBIN erbb2 interacting protein gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1321667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11747533 ERBIN erbb2 interacting protein gene DOID:10283 prostate cancer ISO RGD:1321667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11747533 ERBIN erbb2 interacting protein gene DOID:630 genetic disease ISO RGD:1321667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11747533 ERBIN erbb2 interacting protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11747573 THAP1 THAP domain containing 1 gene DOID:0090039 torsion dystonia 6 ISO RGD:1316870 D RGD:7240710 20180130 OMIM 11747573 THAP1 THAP domain containing 1 gene DOID:0090039 torsion dystonia 6 ISO RGD:1316870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:17576681|PMID:19182804|PMID:19345147|PMID:19345148|PMID:19763152|PMID:19908320|PMID:20083799|PMID:20211909|PMID:20307669|PMID:20669277|PMID:20687191|PMID:20865765|PMID:20925076|PMID:21495072|PMID:21520283|PMID:21538522|PMID:21752024|PMID:21782490|PMID:21793105|PMID:21839475|PMID:21847143|PMID:22377579|PMID:22406018|PMID:22844099|PMID:22903657|PMID:23036512|PMID:23180184|PMID:24500857|PMID:24757586|PMID:24936516|PMID:24976531|PMID:25088175|PMID:25741868|PMID:26087139|PMID:26467025|PMID:26486352|PMID:26506956|PMID:26610312|PMID:27123488|PMID:27913194|PMID:28492532|PMID:28697333|PMID:29520331|PMID:31153764|PMID:31817799|PMID:33175450|PMID:33369735|PMID:9536098 11747573 THAP1 THAP domain containing 1 gene DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 ISO RGD:1316870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 PMID:28492532 11747573 THAP1 THAP domain containing 1 gene DOID:0111959 immunodeficiency 15B ISO RGD:1316870 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 11747573 THAP1 THAP domain containing 1 gene DOID:543 dystonia ISO RGD:1316870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11747573 THAP1 THAP domain containing 1 gene DOID:630 genetic disease ISO RGD:1316870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20211909|PMID:24757586|PMID:25741868|PMID:26467025|PMID:28492532 11747573 THAP1 THAP domain containing 1 gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:1316870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:27726124 11747573 THAP1 THAP domain containing 1 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1316870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 11747585 WDR82 WD repeat domain 82 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1604285 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 11747585 WDR82 WD repeat domain 82 gene DOID:630 genetic disease ISO RGD:1604285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747598 DYSF dysferlin gene DOID:0070198 Miyoshi muscular dystrophy ISO RGD:1322255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Miyoshi muscular dystrophy | ClinVar Annotator: match by term: Miyoshi myopathy | ClinVar Annotator: match by term: Muscular dystrophy, distal, late onset, autosomal recessive PMID:12796534|PMID:14678801|PMID:15469449|PMID:17512949|PMID:17897828|PMID:18832576|PMID:18853459|PMID:19493611|PMID:20535123|PMID:21522182|PMID:22046204|PMID:22297152|PMID:24033266|PMID:24239059|PMID:24438169|PMID:24838345|PMID:25525159|PMID:25741868|PMID:25868377|PMID:25987458|PMID:26077327|PMID:26290895|PMID:26467025|PMID:27365461|PMID:27666772|PMID:28492532|PMID:30107846|PMID:30564623|PMID:32528171|PMID:34906502 11747598 DYSF dysferlin gene DOID:0070199 Miyoshi muscular dystrophy 1 ISO RGD:1322255 D RGD:7240710 20180912 OMIM 11747598 DYSF dysferlin gene DOID:0070199 Miyoshi muscular dystrophy 1 ISO RGD:1322255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 PMID:10196377|PMID:10825360|PMID:11053681|PMID:11468312|PMID:11532985|PMID:12410383|PMID:12796534|PMID:14678801|PMID:15293763|PMID:15469449|PMID:15835269|PMID:16010686|PMID:16087766|PMID:16100712|PMID:16199547|PMID:16891820|PMID:16934466|PMID:16996541|PMID:17070050|PMID:17287450|PMID:17512949|PMID:17576681|PMID:17698709|PMID:17825554|PMID:17897828|PMID:17932988|PMID:17994539|PMID:18276788|PMID:18306167|PMID:18832576|PMID:18853459|PMID:19084402|PMID:19493611|PMID:19528035|PMID:20301480|PMID:20535123|PMID:20544924|PMID:20558759|PMID:20623375|PMID:21484829|PMID:21522182|PMID:21816046|PMID:22046204|PMID:22174839|PMID:22194990|PMID:22246893|PMID:22297152|PMID:22849992|PMID:22910291|PMID:22995991|PMID:23243261|PMID:23757202|PMID:24033266|PMID:24123366|PMID:24239059|PMID:24438169|PMID:24488599|PMID:24838345|PMID:25133958|PMID:25135358|PMID:25312915|PMID:25373139|PMID:25493284|PMID:25525159|PMID:25574751|PMID:25591676|PMID:25741868|PMID:25783436|PMID:25807536|PMID:25821721|PMID:25868377|PMID:26000923|PMID:26060040|PMID:26077327|PMID:26088049|PMID:26290895|PMID:26404900|PMID:26467025|PMID:26579332|PMID:26806107|PMID:26916285|PMID:27066573|PMID:27363342|PMID:27365461|PMID:27447704|PMID:27602406|PMID:27641898|PMID:2764718|PMID:27647186|PMID:27666772|PMID:2766772|PMID:27854218|PMID:27858744|PMID:27884173|PMID:28403181|PMID:28492532|PMID:28904466|PMID:29382405|PMID:29970176|PMID:30028523|PMID:30366248|PMID:30564623|PMID:30919934|PMID:31019989|PMID:31066050|PMID:31475473|PMID:31589614|PMID:31931849|PMID:32400077|PMID:32528171|PMID:32751317|PMID:33610434|PMID:33715265|PMID:33927379|PMID:34559919|PMID:35047756|PMID:8808603|PMID:9536098|PMID:9731526 11747598 DYSF dysferlin gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1322255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:10766988|PMID:11257469|PMID:12796534|PMID:14678801|PMID:15469449|PMID:15827562|PMID:16010686|PMID:16087766|PMID:16100712|PMID:16996541|PMID:17070050|PMID:17512949|PMID:17562833|PMID:17576681|PMID:17698709|PMID:18808059|PMID:18832576|PMID:18853459|PMID:19493611|PMID:19528035|PMID:20301480|PMID:20535123|PMID:20544924|PMID:20558759|PMID:21522182|PMID:21816046|PMID:22194990|PMID:22297152|PMID:22616201|PMID:23243261|PMID:23406536|PMID:23530687|PMID:24033266|PMID:24239059|PMID:24438169|PMID:24488599|PMID:24838345|PMID:25046369|PMID:25135358|PMID:25312915|PMID:25525159|PMID:25591676|PMID:25741868|PMID:25783436|PMID:25868377|PMID:25987458|PMID:26077327|PMID:26088049|PMID:26290895|PMID:26467025|PMID:26916285|PMID:27066573|PMID:27229680|PMID:27365461|PMID:27602406|PMID:27647186|PMID:27666772|PMID:27858744|PMID:27884173|PMID:28403181|PMID:28492532|PMID:28904466|PMID:30107846|PMID:30564623|PMID:30919934|PMID:31019989|PMID:31407473|PMID:32400077|PMID:32528171|PMID:32576226|PMID:33250842|PMID:33610434|PMID:33715265|PMID:33927379|PMID:34440373|PMID:34559919|PMID:34906502|PMID:35135626|PMID:9536098 11747598 DYSF dysferlin gene DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B ISO RGD:1322255 D RGD:7240710 20180130 OMIM 11747598 DYSF dysferlin gene DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B ISO RGD:1322255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2B | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 PMID:10196377|PMID:10766988|PMID:11053681|PMID:11257469|PMID:11468312|PMID:11532985|PMID:12410383|PMID:12471055|PMID:12796534|PMID:14673575|PMID:14678801|PMID:1483054|PMID:15293763|PMID:15469449|PMID:15477515|PMID:15827562|PMID:15835269|PMID:16010686|PMID:16087766|PMID:16100712|PMID:16199547|PMID:16606933|PMID:16705711|PMID:16891820|PMID:16934466|PMID:16996541|PMID:17070050|PMID:17287450|PMID:17331981|PMID:17512949|PMID:17562833|PMID:17576681|PMID:17698709|PMID:17825554|PMID:17828519|PMID:17897828|PMID:17994539|PMID:18276788|PMID:18294055|PMID:18306167|PMID:18392839|PMID:18808059|PMID:18832576|PMID:18853459|PMID:19015158|PMID:19084402|PMID:19154541|PMID:19493611|PMID:19528035|PMID:19953532|PMID:20301480|PMID:20497525|PMID:20535123|PMID:20544924|PMID:20558759|PMID:20623375|PMID:20817457|PMID:20981092|PMID:21173544|PMID:21392994|PMID:21484829|PMID:21520333|PMID:21522182|PMID:21816046|PMID:22046204|PMID:22057634|PMID:22174839|PMID:22194990|PMID:22246893|PMID:22297152|PMID:22318734|PMID:22616201|PMID:22849992|PMID:22910291|PMID:22995991|PMID:23185377|PMID:23243261|PMID:23254335|PMID:23406536|PMID:23519732|PMID:23530687|PMID:23641709|PMID:23757202|PMID:24033266|PMID:24123366|PMID:24239059|PMID:24438169|PMID:24488599|PMID:24838345|PMID:25046369|PMID:25133958|PMID:25135358|PMID:25143362|PMID:25312915|PMID:25326637|PMID:25373139|PMID:25493284|PMID:25525159|PMID:25574751|PMID:25591676|PMID:25591678|PMID:25741868|PMID:25783436|PMID:25807536|PMID:25821721|PMID:25868377|PMID:25898921|PMID:25900324|PMID:25987458|PMID:26000923|PMID:2606004|PMID:26060040|PMID:26077327|PMID:26088049|PMID:26273692|PMID:26290895|PMID:26404900|PMID:26436962|PMID:26444858|PMID:26467025|PMID:26579332|PMID:26671124|PMID:26764160|PMID:26806107|PMID:26916285|PMID:27066573|PMID:27104310|PMID:27195159|PMID:27229680|PMID:27290639|PMID:27363342|PMID:27365461|PMID:27447704|PMID:27602406|PMID:27641898|PMID:2764718|PMID:27647186|PMID:27666772|PMID:2766772|PMID:27821570|PMID:27854218|PMID:27858744|PMID:27884173|PMID:28104817|PMID:28403181|PMID:28492532|PMID:28600779|PMID:28877744|PMID:29138090|PMID:29382405|PMID:29797799|PMID:29970176|PMID:30028523|PMID:30098242|PMID:30107846|PMID:30292141|PMID:30366248|PMID:30564623|PMID:30919934|PMID:31066050|PMID:31268554|PMID:31407473|PMID:31475473|PMID:31589614|PMID:31931849|PMID:32140910|PMID:32400077|PMID:32419263|PMID:32528171|PMID:32576226|PMID:32751317|PMID:32860008|PMID:33144682|PMID:33250842|PMID:33610434|PMID:33715265|PMID:33927379|PMID:34440373|PMID:34559919|PMID:34906502|PMID:35047756|PMID:35135626|PMID:8808603|PMID:9536098|PMID:9731526|PMID:9731527 11747598 DYSF dysferlin gene DOID:0111187 distal muscular dystrophy with anterior tibial onset ISO RGD:1322255 D RGD:7240710 20180130 OMIM 11747598 DYSF dysferlin gene DOID:0111187 distal muscular dystrophy with anterior tibial onset ISO RGD:1322255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal myopathy with anterior tibial onset PMID:11053681|PMID:11198284|PMID:11468312|PMID:11532985|PMID:12410383|PMID:12796534|PMID:14678801|PMID:15469449|PMID:15835269|PMID:16010686|PMID:16087766|PMID:16100712|PMID:16199547|PMID:16891820|PMID:16934466|PMID:17070050|PMID:17512949|PMID:17576681|PMID:17698709|PMID:17897828|PMID:17994539|PMID:18276788|PMID:18832576|PMID:18853459|PMID:19493611|PMID:19528035|PMID:20301480|PMID:20535123|PMID:20544924|PMID:20558759|PMID:21484829|PMID:21522182|PMID:21816046|PMID:22046204|PMID:22174839|PMID:22194990|PMID:22246893|PMID:22297152|PMID:22995991|PMID:23243261|PMID:23757202|PMID:24033266|PMID:24123366|PMID:24239059|PMID:24438169|PMID:24488599|PMID:24838345|PMID:25135358|PMID:25312915|PMID:25493284|PMID:25525159|PMID:25591676|PMID:25741868|PMID:25783436|PMID:25807536|PMID:25868377|PMID:26000923|PMID:26077327|PMID:26088049|PMID:26404900|PMID:26467025|PMID:26806107|PMID:26916285|PMID:27066573|PMID:27363342|PMID:27365461|PMID:27447704|PMID:27602406|PMID:27647186|PMID:27666772|PMID:2766772|PMID:27821570|PMID:27854218|PMID:27858744|PMID:28403181|PMID:28492532|PMID:29382405|PMID:30028523|PMID:30564623|PMID:30919934|PMID:31475473|PMID:31589614|PMID:31931849|PMID:32528171|PMID:32576226|PMID:32751317|PMID:33610434|PMID:33613410|PMID:33715265|PMID:33927379|PMID:34559919|PMID:9536098|PMID:9731526 11747598 DYSF dysferlin gene DOID:11720 distal myopathy ISO RGD:1322256 D RGD:9068941 20220825 MouseDO OMIM:160300 | OMIM:160500 | OMIM:254130 | OMIM:606768 | OMIM:607569 | OMIM:610099 | OMIM:613318 | OMIM:613319 | OMIM:614065 | OMIM:614321 11747598 DYSF dysferlin gene DOID:14669 acrodysostosis ISO RGD:1322255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Peripheral dysostosis PMID:11257469|PMID:16100712|PMID:17070050|PMID:17576681|PMID:18853459|PMID:20535123|PMID:21522182|PMID:22194990|PMID:25741868|PMID:26088049|PMID:26467025|PMID:27647186|PMID:27666772|PMID:28492532|PMID:9536098 11747598 DYSF dysferlin gene DOID:423 myopathy ISO RGD:1322255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy 11747598 DYSF dysferlin gene DOID:5419 schizophrenia ISO RGD:1322255 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11747598 DYSF dysferlin gene DOID:543 dystonia ISO RGD:1322255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11747598 DYSF dysferlin gene DOID:574 peripheral nervous system disease ISO RGD:1322255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11747598 DYSF dysferlin gene DOID:630 genetic disease ISO RGD:1322255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17070050|PMID:21522182|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532 11747598 DYSF dysferlin gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1322255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11747598 DYSF dysferlin gene DOID:870 neuropathy ISO RGD:1322255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11747598 DYSF dysferlin gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1322255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11747598 DYSF dysferlin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11747598 DYSF dysferlin gene DOID:9004518 Dysferlinopathy ISO RGD:1322255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dysferlinopathy PMID:10196377|PMID:10766988|PMID:11053681|PMID:11198284|PMID:11257469|PMID:11468312|PMID:11532985|PMID:12410383|PMID:12796534|PMID:14673575|PMID:14678801|PMID:15293763|PMID:15469449|PMID:15477515|PMID:15515206|PMID:15827562|PMID:15835269|PMID:16010686|PMID:16087766|PMID:16100712|PMID:16199547|PMID:16705711|PMID:16891820|PMID:16934466|PMID:16996541|PMID:1707005|PMID:17070050|PMID:17129727|PMID:17287450|PMID:17331981|PMID:17512949|PMID:17562833|PMID:17576681|PMID:17698709|PMID:17825554|PMID:17828519|PMID:17897828|PMID:17994539|PMID:18276788|PMID:18294055|PMID:18306167|PMID:18392839|PMID:18396043|PMID:18808059|PMID:18832576|PMID:18853459|PMID:19015158|PMID:19084402|PMID:19154541|PMID:19309282|PMID:19493611|PMID:19528035|PMID:19594366|PMID:19763152|PMID:19953532|PMID:20301480|PMID:20307669|PMID:20497525|PMID:20535123|PMID:20544924|PMID:20558759|PMID:20623375|PMID:20817457|PMID:20981092|PMID:21173544|PMID:21392994|PMID:21484829|PMID:21520333|PMID:21522182|PMID:21816046|PMID:22046204|PMID:22057634|PMID:22174839|PMID:22194990|PMID:22246893|PMID:22297152|PMID:22318734|PMID:22406018|PMID:22616201|PMID:22849992|PMID:22910291|PMID:22995991|PMID:23185377|PMID:23243261|PMID:23254335|PMID:23406536|PMID:23488891|PMID:23519732|PMID:23530687|PMID:23641709|PMID:23757202|PMID:24033266|PMID:24123366|PMID:24239059|PMID:24438169|PMID:24488599|PMID:24838345|PMID:25046369|PMID:25133958|PMID:25135358|PMID:25143362|PMID:25214167|PMID:25312915|PMID:25326637|PMID:25373139|PMID:25493284|PMID:25525159|PMID:25574751|PMID:25591676|PMID:25591678|PMID:25640679|PMID:25741868|PMID:25783436|PMID:25807536|PMID:25821721|PMID:25868377|PMID:25898921|PMID:25900324|PMID:25987458|PMID:26000923|PMID:2606004|PMID:26060040|PMID:26077327|PMID:26088049|PMID:26273692|PMID:26290895|PMID:26404900|PMID:26436962|PMID:26444858|PMID:26467025|PMID:26579332|PMID:26620441|PMID:26671124|PMID:26764160|PMID:26806107|PMID:26916285|PMID:27066573|PMID:27104310|PMID:27195159|PMID:27229680|PMID:27290639|PMID:27347015|PMID:27363342|PMID:27365461|PMID:27447704|PMID:27602406|PMID:27641898|PMID:27647186|PMID:27666772|PMID:2766772|PMID:27671536|PMID:27821570|PMID:27854218|PMID:27858744|PMID:27884173|PMID:28104817|PMID:28403181|PMID:28492532|PMID:28600779|PMID:28877744|PMID:28904466|PMID:29138090|PMID:29382405|PMID:29797799|PMID:29970176|PMID:29997562|PMID:30028523|PMID:30098242|PMID:30107846|PMID:30292141|PMID:30366248|PMID:30564623|PMID:30919934|PMID:31019989|PMID:31066050|PMID:31268554|PMID:31407473|PMID:31475473|PMID:31589614|PMID:31931849|PMID:32140910|PMID:32400077|PMID:32419263|PMID:32528171|PMID:32576226|PMID:32751317|PMID:32860008|PMID:33144682|PMID:33250842|PMID:33348118|PMID:33610434|PMID:33613410|PMID:33715265|PMID:33927379|PMID:34281941|PMID:34440373|PMID:34559919|PMID:34906502|PMID:35047756|PMID:35135626|PMID:8808603|PMID:9536098|PMID:9731526 11747598 DYSF dysferlin gene DOID:9005532 Muscle Weakness ISO RGD:1322255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868 11747598 DYSF dysferlin gene DOID:9006785 Congenital Myopathy 5 with Cardiomyopathy ISO RGD:1322255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:25741868|PMID:28492532 11747598 DYSF dysferlin gene DOID:9884 muscular dystrophy ISO RGD:1322255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:17698709|PMID:20301480|PMID:21522182|PMID:24033266|PMID:25741868|PMID:27884173|PMID:28492532 11747675 ARL3 ADP ribosylation factor like GTPase 3 gene DOID:0110415 retinitis pigmentosa 2 ISO RGD:737247 D RGD:9068941 20220825 MouseDO OMIM:312600 11747675 ARL3 ADP ribosylation factor like GTPase 3 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:737247 D RGD:9068941 20220825 MouseDO OMIM:263200 11747675 ARL3 ADP ribosylation factor like GTPase 3 gene DOID:0112140 retinitis pigmentosa 83 ISO RGD:734227 D RGD:7240710 20190315 OMIM 11747675 ARL3 ADP ribosylation factor like GTPase 3 gene DOID:0112140 retinitis pigmentosa 83 ISO RGD:734227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 83 PMID:25741868|PMID:26964041|PMID:28492532|PMID:30932721 11747675 ARL3 ADP ribosylation factor like GTPase 3 gene DOID:10584 retinitis pigmentosa ISO RGD:734227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:33748123 11747675 ARL3 ADP ribosylation factor like GTPase 3 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:734227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:12068298|PMID:22508808|PMID:25403219|PMID:28492532|PMID:31639285 11747675 ARL3 ADP ribosylation factor like GTPase 3 gene DOID:630 genetic disease ISO RGD:734227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11747675 ARL3 ADP ribosylation factor like GTPase 3 gene DOID:9001060 JOUBERT SYNDROME 35 ISO RGD:734227 D RGD:7240710 20190315 OMIM 11747675 ARL3 ADP ribosylation factor like GTPase 3 gene DOID:9001060 JOUBERT SYNDROME 35 ISO RGD:734227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 35 PMID:25741868|PMID:28492532|PMID:30269812 11747688 P2RX5 purinergic receptor P2X 5 gene DOID:3613 Canavan disease ISO RGD:737418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:28492532|PMID:7668285 11747688 P2RX5 purinergic receptor P2X 5 gene DOID:630 genetic disease ISO RGD:737418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747708 AQR aquarius intron-binding spliceosomal factor gene DOID:2717 Bloom syndrome ISO RGD:1314717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11747708 AQR aquarius intron-binding spliceosomal factor gene DOID:630 genetic disease ISO RGD:1314717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747708 AQR aquarius intron-binding spliceosomal factor gene DOID:9256 colorectal cancer ISO RGD:1314717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11747748 AMER3 APC membrane recruitment protein 3 gene DOID:5419 schizophrenia ISO RGD:1601927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11747748 AMER3 APC membrane recruitment protein 3 gene DOID:630 genetic disease ISO RGD:1601927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747748 AMER3 APC membrane recruitment protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11747748 AMER3 APC membrane recruitment protein 3 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1601927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 11747757 ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1350541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11747757 ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1350541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11747757 ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:1324 lung cancer severity ISO RGD:1350541 D RGD:9068941 20230105 RGD PMID:33573689|REF_RGD_ID:155791670 11747757 ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1350541 D RGD:9068941 20230105 RGD PMID:33573689|REF_RGD_ID:155791670 11747757 ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:5325 Roberts syndrome ISO RGD:1350541 D RGD:7240710 20180130 OMIM 11747757 ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:5325 Roberts syndrome ISO RGD:1350541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Roberts syndrome | ClinVar Annotator: match by term: Roberts-SC phocomelia syndrome PMID:15821733|PMID:16199547|PMID:16380922|PMID:1642282|PMID:16775838|PMID:18411254|PMID:18414213|PMID:19574259|PMID:20101700|PMID:20301332|PMID:24864645|PMID:25741868|PMID:26710928|PMID:28492532|PMID:30508616|PMID:30590172|PMID:31192177|PMID:31976146|PMID:3740099|PMID:495649 11747757 ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 11747757 ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:630 genetic disease ISO RGD:1350541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15821733|PMID:16380922|PMID:18414213|PMID:20101700|PMID:28492532 11747757 ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1350541 D RGD:9068941 20230105 RGD mRNA:increased expression:peripheral blood mononuclear cell PMID:36104638|REF_RGD_ID:155791669 11747757 ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:1350541 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 11747757 ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1350541 D RGD:7240710 20210324 OMIM 11747757 ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1350541 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Juberg-Hayward syndrome PMID:18414213|PMID:20301332|PMID:25741868|PMID:28492532|PMID:32255174|PMID:32977150 11747773 AEBP2 AE binding protein 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1316304 D RGD:9068941 20220825 MouseDO OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 11747773 AEBP2 AE binding protein 2 gene DOID:630 genetic disease ISO RGD:1316303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747773 AEBP2 AE binding protein 2 gene DOID:9258 Waardenburg's syndrome ISO RGD:1316304 D RGD:9068941 20220825 MouseDO 11747788 LRRC52 leucine rich repeat containing 52 gene DOID:1540 parathyroid carcinoma ISO RGD:1603449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11747788 LRRC52 leucine rich repeat containing 52 gene DOID:630 genetic disease ISO RGD:1603449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747788 LRRC52 leucine rich repeat containing 52 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11747794 B4GALT6 beta-1,4-galactosyltransferase 6 gene DOID:1059 intellectual disability ISO RGD:737376 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11747794 B4GALT6 beta-1,4-galactosyltransferase 6 gene DOID:2377 multiple sclerosis ISO RGD:737376 D RGD:9068941 20200609 RGD mRNA:increased expression:white matter PMID:25216636|REF_RGD_ID:14390079 11747794 B4GALT6 beta-1,4-galactosyltransferase 6 gene DOID:630 genetic disease ISO RGD:737376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747794 B4GALT6 beta-1,4-galactosyltransferase 6 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:737377 D RGD:9068941 20200609 RGD mRNA:increased expression:astrocyte PMID:25216636|REF_RGD_ID:14390079 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:0050904 salivary gland carcinoma disease_progression ISO RGD:736739 D RGD:9068941 20210507 RGD PMID:26498950|REF_RGD_ID:126907998 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736739 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:0060500 drug allergy ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17508966 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:0080322 polycystic kidney disease ISO RGD:3439 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17537981|REF_RGD_ID:2300262 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:0080820 occupational asthma ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25721048 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:10591 pre-eclampsia ISO RGD:11184 D RGD:9068941 20220825 MouseDO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:10652 Alzheimer's disease ISO RGD:11184 D RGD:9068941 20200609 RGD PMID:20157512|REF_RGD_ID:5688156 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:10652 Alzheimer's disease ISO RGD:3439 D RGD:9068941 20200609 RGD PMID:21701788|REF_RGD_ID:5688147 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:10652 Alzheimer's disease ISO RGD:736739 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:10560656|REF_RGD_ID:5688249 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:10808 gastric ulcer ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10594344|PMID:19066340 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:736739 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:macrophage, endothelial cell PMID:12663931|REF_RGD_ID:5688237 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:13413 hepatic encephalopathy ISO RGD:3439 D RGD:9068941 20200609 RGD PMID:21575628|REF_RGD_ID:5688266 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:1591 renovascular hypertension ISO RGD:3439 D RGD:9068941 20200609 RGD PMID:17766473|REF_RGD_ID:2300258 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:1612 breast cancer ISO RGD:736739 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:9521170|REF_RGD_ID:2300213 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:1686 glaucoma ISO RGD:736739 D RGD:9068941 20200609 RGD protein:increased expression:microglia PMID:11391707|REF_RGD_ID:5688244 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:2316 brain ischemia ISO RGD:11184 D RGD:9068941 20200609 RGD PMID:11740205|REF_RGD_ID:5688240 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:2316 brain ischemia ISO RGD:736739 D RGD:9068941 20200609 RGD protein:increased expression:microglia, macrophage PMID:10867793|REF_RGD_ID:5688247 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:2394 ovarian cancer ISO RGD:736739 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ovary PMID:12615701|REF_RGD_ID:2300211 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:736739 D RGD:9068941 20200609 RGD PMID:18416056|REF_RGD_ID:2300125 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:2893 cervix carcinoma disease_progression ISO RGD:736739 D RGD:9068941 20200609 RGD PMID:16803521|REF_RGD_ID:2300207 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:305 carcinoma ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189197 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:3068 glioblastoma ISO RGD:3439 D RGD:9068941 20200609 RGD protein:increased expression:microglia, macrophage, PMID:10229132|REF_RGD_ID:5688250 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:3068 glioblastoma disease_progression ISO RGD:736739 D RGD:9068941 20200609 RGD PMID:11121536|REF_RGD_ID:5688245 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:3071 gliosarcoma ISO RGD:3439 D RGD:9068941 20200609 RGD protein:increased expression:microglia, macrophage, PMID:10229132|REF_RGD_ID:5688250 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:3312 bipolar disorder ISO RGD:736739 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:prefrontal cortex PMID:20038946|REF_RGD_ID:5688160 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:4450 renal cell carcinoma ISO RGD:3439 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:12708469|REF_RGD_ID:2300212 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:3439 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:Esophagus PMID:22165968|REF_RGD_ID:5687745 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:5119 ovarian cyst ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:6000 congestive heart failure ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20304815 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:630 genetic disease ISO RGD:736739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:7148 rheumatoid arthritis ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15167967 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:783 end stage renal disease ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:8577 ulcerative colitis ISO RGD:3439 D RGD:9068941 20200609 RGD PMID:17429720|REF_RGD_ID:2300267 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3439 D RGD:9068941 20200609 RGD PMID:17184185|REF_RGD_ID:5688221 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3439 D RGD:9068941 20200609 RGD protein:increased expression:microglia, macrophage PMID:11063829|REF_RGD_ID:5688246 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189197 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9000641 Pain ISO RGD:3439 D RGD:9068941 20200609 RGD PMID:17942724|REF_RGD_ID:2300252 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9000641 Pain ISO RGD:3439 D RGD:9068941 20200609 RGD associated with Osteoarthritis, Knee;mRNA, protein:increased expression:spinal cord PMID:18637715|REF_RGD_ID:2300223 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17508966 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:3439 D RGD:9068941 20200609 RGD protein:increased expression:intestine PMID:17699727|REF_RGD_ID:2290567 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9000998 Brain Injuries ISO RGD:11184 D RGD:9068941 20200609 RGD PMID:19719848|REF_RGD_ID:5688162 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9000998 Brain Injuries ISO RGD:3439 D RGD:9068941 20200609 RGD protein:increased expression:microglia, macrophage PMID:11565600|REF_RGD_ID:5688242 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9000998 Brain Injuries ISO RGD:736739 D RGD:9068941 20200609 RGD protein:increased expression:microglial cells, macrophage, endothelial cell PMID:12005397|REF_RGD_ID:5688239 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9001240 Peripheral Nerve Injuries disease_progression ISO RGD:3439 D RGD:9068941 20200609 RGD PMID:14576556|REF_RGD_ID:5688234 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9001472 Nasal Polyps ISO RGD:736739 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis; protein:increased expression:nasal mucosa: PMID:16517580|REF_RGD_ID:5143924 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9001642 Intestinal Polyps ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10753194|PMID:12189188 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9002211 Hyperalgesia ISO RGD:3439 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:17413918|REF_RGD_ID:5688169 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9002211 Hyperalgesia ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17989504 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9002457 Experimental Arthritis ISO RGD:3439 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:synovium PMID:22289897|REF_RGD_ID:5687744 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:11184 D RGD:9068941 20200609 RGD PMID:15867369|REF_RGD_ID:2300208 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:11184 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, cerebellum, spinal cord PMID:21667309|REF_RGD_ID:5688149 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3439 D RGD:9068941 20200609 RGD protein:increased expression:microglia, macrophage, PMID:10229132|REF_RGD_ID:5688250 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:736739 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system epithelium PMID:19364335|REF_RGD_ID:5147461 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10594344 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:736739 D RGD:9068941 20200609 RGD PMID:16385084|REF_RGD_ID:5688223 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3439 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:12086957|REF_RGD_ID:727386 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:3439 D RGD:9068941 20200609 RGD protein:increased expression: PMID:12916703|REF_RGD_ID:5688236 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9007278 Anaphylaxis ISO RGD:3439 D RGD:9068941 20200609 RGD PMID:18480553|REF_RGD_ID:2300247 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9007763 Flushing ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16322797 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9007980 Sleep Deprivation ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16343605 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:736739 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system epithelium PMID:19364335|REF_RGD_ID:5147461 11747810 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18488158 11747828 APLP2 amyloid beta precursor like protein 2 gene DOID:0111723 Jacobsen Syndrome ISO RGD:731852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11747828 APLP2 amyloid beta precursor like protein 2 gene DOID:10652 Alzheimer's disease ISO RGD:2128 D RGD:9068941 20200609 RGD PMID:8086458|REF_RGD_ID:734582 11747828 APLP2 amyloid beta precursor like protein 2 gene DOID:1289 neurodegenerative disease ISO RGD:2128 D RGD:9068941 20200609 RGD protein:increased expression:striatum PMID:12372026|REF_RGD_ID:1358285 11747828 APLP2 amyloid beta precursor like protein 2 gene DOID:5419 schizophrenia ISO RGD:731852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11747828 APLP2 amyloid beta precursor like protein 2 gene DOID:630 genetic disease ISO RGD:731852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747828 APLP2 amyloid beta precursor like protein 2 gene DOID:9002955 Nerve Degeneration ISO RGD:731852 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11784781 11747828 APLP2 amyloid beta precursor like protein 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:731852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11747828 APLP2 amyloid beta precursor like protein 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:731852 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11747828 APLP2 amyloid beta precursor like protein 2 gene DOID:9007661 Dwarfism ISO RGD:731852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11747854 RNASE6 ribonuclease A family member k6 gene DOID:3602 toxic encephalopathy ISO RGD:1353772 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11747854 RNASE6 ribonuclease A family member k6 gene DOID:409 liver disease ISO RGD:1353772 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11747854 RNASE6 ribonuclease A family member k6 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1353772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 11747854 RNASE6 ribonuclease A family member k6 gene DOID:630 genetic disease ISO RGD:1353772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747854 RNASE6 ribonuclease A family member k6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1353772 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11747866 EPS8L1 EPS8 like 1 gene DOID:630 genetic disease ISO RGD:1322450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747913 LOC103782669 myosin-8 gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:1345305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 11747913 LOC103782669 myosin-8 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1345305 D RGD:9068941 20200609 RGD Carney complex variant, OMIM:608837, DNA:point mutation:exon:R674Q PMID:15282353|REF_RGD_ID:1600548 11747913 LOC103782669 myosin-8 gene DOID:0111596 distal arthrogryposis type 1 ISO RGD:1345305 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I PMID:25741868 11747913 LOC103782669 myosin-8 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1345305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:25741868 11747913 LOC103782669 myosin-8 gene DOID:0111603 distal arthrogryposis type 7 ISO RGD:1345305 D RGD:7240710 20180509 OMIM 11747913 LOC103782669 myosin-8 gene DOID:0111603 distal arthrogryposis type 7 ISO RGD:1345305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dutch-Kentucky syndrome | ClinVar Annotator: match by term: Hecht syndrome PMID:12800911|PMID:15282353|PMID:15590965|PMID:1600999|PMID:17041932|PMID:18049072|PMID:18414213|PMID:20949528|PMID:25305228|PMID:25741868|PMID:28492532|PMID:4443857|PMID:4837286 11747913 LOC103782669 myosin-8 gene DOID:10283 prostate cancer ISO RGD:1345305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11747913 LOC103782669 myosin-8 gene DOID:14566 disease of cellular proliferation ISO RGD:1345305 D RGD:9068941 20200609 RGD Carney complex variant, OMIM:608837, DNA:point mutation:exon:R674Q PMID:15282353|REF_RGD_ID:1600548 11747913 LOC103782669 myosin-8 gene DOID:630 genetic disease ISO RGD:1345305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11747913 LOC103782669 myosin-8 gene DOID:9000219 Carney Complex Variant ISO RGD:1345305 D RGD:7240710 20180509 OMIM 11747913 LOC103782669 myosin-8 gene DOID:9000219 Carney Complex Variant ISO RGD:1345305 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carney complex variant PMID:12800911|PMID:15282353|PMID:15590965|PMID:1600999|PMID:17041932|PMID:18049072|PMID:20949528|PMID:25741868|PMID:28492532|PMID:4443857|PMID:4837286 11747913 LOC103782669 myosin-8 gene DOID:9007661 Dwarfism ISO RGD:1345305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11747913 LOC103782669 myosin-8 gene DOID:9884 muscular dystrophy ISO RGD:1345305 D RGD:9068941 20200609 RGD protein:increased expression:muscle: PMID:3513005|REF_RGD_ID:12914761 11747957 PELO pelota mRNA surveillance and ribosome rescue factor gene DOID:630 genetic disease ISO RGD:1343336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11747957 PELO pelota mRNA surveillance and ribosome rescue factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11747999 COMMD3 COMM domain containing 3 gene DOID:630 genetic disease ISO RGD:1349755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748028 SH3BGRL3 SH3 domain binding glutamate rich protein like 3 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1317706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 11748028 SH3BGRL3 SH3 domain binding glutamate rich protein like 3 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1317706 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 11748028 SH3BGRL3 SH3 domain binding glutamate rich protein like 3 gene DOID:630 genetic disease ISO RGD:1317706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748028 SH3BGRL3 SH3 domain binding glutamate rich protein like 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11748036 MARCHF3 membrane associated ring-CH-type finger 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1344254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11748036 MARCHF3 membrane associated ring-CH-type finger 3 gene DOID:630 genetic disease ISO RGD:1344254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748036 MARCHF3 membrane associated ring-CH-type finger 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11748036 MARCHF3 membrane associated ring-CH-type finger 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11748045 BLMH bleomycin hydrolase gene DOID:0111253 neurofibromatosis 1 ISO RGD:1312244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 11748045 BLMH bleomycin hydrolase gene DOID:630 genetic disease ISO RGD:1312244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748061 EBF3 EBF transcription factor 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1346410 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11748061 EBF3 EBF transcription factor 3 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1346410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11748061 EBF3 EBF transcription factor 3 gene DOID:0081176 hypotonia, ataxia, and delayed development syndrome ISO RGD:1346410 D RGD:7240710 20190315 OMIM 11748061 EBF3 EBF transcription factor 3 gene DOID:0081176 hypotonia, ataxia, and delayed development syndrome ISO RGD:1346410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypotonia, ataxia, and delayed development syndrome PMID:19627984|PMID:20300201|PMID:25741868|PMID:28017370|PMID:28017372|PMID:28017373|PMID:28487885|PMID:28492532|PMID:29062322|PMID:29162653|PMID:31952901|PMID:32366537|PMID:32581362|PMID:32637629|PMID:33102976|PMID:33956416|PMID:35340043 11748061 EBF3 EBF transcription factor 3 gene DOID:1059 intellectual disability ISO RGD:1346410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28017370|PMID:28017372|PMID:33956416|PMID:35340043 11748061 EBF3 EBF transcription factor 3 gene DOID:12143 neurogenic bladder ISO RGD:1346410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurogenic bladder PMID:28017373|PMID:32366537|PMID:33956416 11748061 EBF3 EBF transcription factor 3 gene DOID:12859 choreatic disease ISO RGD:1346410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal dyskinesia PMID:32581362 11748061 EBF3 EBF transcription factor 3 gene DOID:13501 Moebius syndrome ISO RGD:1346410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 11748061 EBF3 EBF transcription factor 3 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1346410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate PMID:25741868|PMID:28017370|PMID:28017372|PMID:33956416|PMID:35340043 11748061 EBF3 EBF transcription factor 3 gene DOID:630 genetic disease ISO RGD:1346410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19627984|PMID:20300201|PMID:20876732|PMID:25741868|PMID:28017370|PMID:28017372|PMID:28017373|PMID:28487885|PMID:28492532|PMID:29062322|PMID:29162653|PMID:32637629|PMID:33102976|PMID:33956416|PMID:35340043|PMID:7796816 11748061 EBF3 EBF transcription factor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28017370|PMID:31952901|PMID:33956416 11748061 EBF3 EBF transcription factor 3 gene DOID:9004866 Ataxia ISO RGD:1346410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dyssynergia PMID:25741868|PMID:28017370|PMID:28017372|PMID:33956416|PMID:35340043 11748061 EBF3 EBF transcription factor 3 gene DOID:9005466 Language Development Disorders ISO RGD:1346410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Expressive language delay PMID:25741868|PMID:28017370|PMID:28017372|PMID:33956416|PMID:35340043 11748061 EBF3 EBF transcription factor 3 gene DOID:9005603 Muscle Hypotonia ISO RGD:1346410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: poor muscle tone PMID:25741868|PMID:28017370|PMID:28017372|PMID:33956416|PMID:35340043 11748061 EBF3 EBF transcription factor 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1346410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28017370|PMID:28017372|PMID:32581362|PMID:33956416|PMID:35340043 11748084 CCDC102A coiled-coil domain containing 102A gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605307 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11748084 CCDC102A coiled-coil domain containing 102A gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605307 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11748084 CCDC102A coiled-coil domain containing 102A gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11748084 CCDC102A coiled-coil domain containing 102A gene DOID:630 genetic disease ISO RGD:1605307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748098 BCAS1 brain enriched myelin associated protein 1 gene DOID:630 genetic disease ISO RGD:1351231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748098 BCAS1 brain enriched myelin associated protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15583422 11748098 BCAS1 brain enriched myelin associated protein 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1351231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11748123 SULT2A1 sulfotransferase family 2A member 1 gene DOID:0110333 Leber congenital amaurosis 7 ISO RGD:1344997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 7 PMID:28492532|PMID:30557390 11748123 SULT2A1 sulfotransferase family 2A member 1 gene DOID:10283 prostate cancer no_association ISO RGD:1344997 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.A63P (187G>C), p.A261T (781G>A) (human) PMID:16617014|REF_RGD_ID:6893649 11748123 SULT2A1 sulfotransferase family 2A member 1 gene DOID:10283 prostate cancer severity ISO RGD:1344997 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs2547238) (human) PMID:22542949|REF_RGD_ID:6893648 11748123 SULT2A1 sulfotransferase family 2A member 1 gene DOID:630 genetic disease ISO RGD:1344997 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748123 SULT2A1 sulfotransferase family 2A member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 11748123 SULT2A1 sulfotransferase family 2A member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21716162 11748134 SLC22A8 solute carrier family 22 member 8 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:732952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11748134 SLC22A8 solute carrier family 22 member 8 gene DOID:1059 intellectual disability ISO RGD:732952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11748134 SLC22A8 solute carrier family 22 member 8 gene DOID:5082 liver cirrhosis ISO RGD:732952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11748134 SLC22A8 solute carrier family 22 member 8 gene DOID:630 genetic disease ISO RGD:732952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748134 SLC22A8 solute carrier family 22 member 8 gene DOID:9001488 Human Influenza ISO RGD:732952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23129053 11748134 SLC22A8 solute carrier family 22 member 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11748134 SLC22A8 solute carrier family 22 member 8 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11748134 SLC22A8 solute carrier family 22 member 8 gene DOID:9452 fatty liver disease ISO RGD:732952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11748167 CTSF cathepsin F gene DOID:0110727 neuronal ceroid lipofuscinosis 13 ISO RGD:1317809 D RGD:7240710 20180130 OMIM 11748167 CTSF cathepsin F gene DOID:0110727 neuronal ceroid lipofuscinosis 13 ISO RGD:1317809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 13 PMID:16199547|PMID:17576681|PMID:17828264|PMID:23297359|PMID:25274848|PMID:25741868|PMID:26467025|PMID:27120077|PMID:27524508|PMID:28492532|PMID:9536098 11748167 CTSF cathepsin F gene DOID:1059 intellectual disability ISO RGD:1317809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11748167 CTSF cathepsin F gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1317809 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 11748167 CTSF cathepsin F gene DOID:630 genetic disease ISO RGD:1317809 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17828264|PMID:23297359|PMID:25274848|PMID:25741868|PMID:26467025|PMID:27120077|PMID:27524508|PMID:28492532 11748167 CTSF cathepsin F gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1317809 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11748167 CTSF cathepsin F gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11748167 CTSF cathepsin F gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1317809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11748167 CTSF cathepsin F gene DOID:9008582 Developmental Disease ISO RGD:1317809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11748188 TOPAZ1 testis and ovary specific TOPAZ 1 gene DOID:630 genetic disease ISO RGD:2311615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748212 SERPINC1 serpin family C member 1 gene DOID:0060903 thrombosis ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11132655|PMID:2133253|PMID:6889048|PMID:8967151 11748212 SERPINC1 serpin family C member 1 gene DOID:0060903 thrombosis ISO RGD:1316583 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.F229L (human) PMID:12595305|REF_RGD_ID:1580119 11748212 SERPINC1 serpin family C member 1 gene DOID:0060903 thrombosis treatment ISO RGD:1307404 D RGD:9068941 20200609 RGD PMID:17293494|REF_RGD_ID:11035267 11748212 SERPINC1 serpin family C member 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1316583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:21264449|PMID:23932013|PMID:25298121|PMID:28492532 11748212 SERPINC1 serpin family C member 1 gene DOID:10159 osteonecrosis ISO RGD:1316583 D RGD:9068941 20200625 RGD associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human) PMID:16547717|PMID:16677567|REF_RGD_ID:30309948|REF_RGD_ID:30309951 11748212 SERPINC1 serpin family C member 1 gene DOID:11247 disseminated intravascular coagulation ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:6233579|PMID:8810955|PMID:9637888 11748212 SERPINC1 serpin family C member 1 gene DOID:11247 disseminated intravascular coagulation treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:2679067|REF_RGD_ID:11035251 11748212 SERPINC1 serpin family C member 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8810955 11748212 SERPINC1 serpin family C member 1 gene DOID:1168 familial hyperlipidemia ISO RGD:1307404 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17283885|REF_RGD_ID:11035268 11748212 SERPINC1 serpin family C member 1 gene DOID:1184 nephrotic syndrome ISO RGD:1307404 D RGD:9068941 20200609 RGD PMID:7532794|REF_RGD_ID:11035294 11748212 SERPINC1 serpin family C member 1 gene DOID:1184 nephrotic syndrome ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11304663 11748212 SERPINC1 serpin family C member 1 gene DOID:1184 nephrotic syndrome disease_progression ISO RGD:1316583 D RGD:9068941 20200609 RGD PMID:8979144|REF_RGD_ID:11038563 11748212 SERPINC1 serpin family C member 1 gene DOID:1247 blood coagulation disease ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:62897 11748212 SERPINC1 serpin family C member 1 gene DOID:14115 toxic shock syndrome treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD PMID:16732381|REF_RGD_ID:1599323 11748212 SERPINC1 serpin family C member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1316583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11748212 SERPINC1 serpin family C member 1 gene DOID:2213 hemorrhagic disease ISO RGD:1316583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:12907439|PMID:1906811|PMID:19277409|PMID:2012760|PMID:20683322|PMID:23329010|PMID:24055113|PMID:25341889|PMID:25637381|PMID:25741868|PMID:28317092|PMID:28492532|PMID:29902631|PMID:8664906|PMID:9493570 11748212 SERPINC1 serpin family C member 1 gene DOID:2394 ovarian cancer ISO RGD:1307404 D RGD:9068941 20200609 RGD PMID:22818854|REF_RGD_ID:11035257 11748212 SERPINC1 serpin family C member 1 gene DOID:3021 acute kidney failure ISO RGD:1316583 D RGD:9068941 20200609 RGD associated with heart failure; protein:decreased activity:plasma: PMID:26108065|REF_RGD_ID:11354006 11748212 SERPINC1 serpin family C member 1 gene DOID:3755 antithrombin III deficiency ISO RGD:1316583 D RGD:7240710 20180130 OMIM 11748212 SERPINC1 serpin family C member 1 gene DOID:3755 antithrombin III deficiency ISO RGD:1316583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency PMID:10361121|PMID:11192751|PMID:11307839|PMID:11686319|PMID:11713457|PMID:12399451|PMID:12591924|PMID:12907439|PMID:1325679|PMID:1360174|PMID:1421387|PMID:14347873|PMID:1469094|PMID:14754620|PMID:1483705|PMID:1483709|PMID:15164384|PMID:1536946|PMID:1551681|PMID:1555650|PMID:16268490|PMID:16620552|PMID:16705712|PMID:17576681|PMID:17849067|PMID:1868237|PMID:1873224|PMID:18954896|PMID:1906811|PMID:19277409|PMID:1932746|PMID:1977621|PMID:1998601|PMID:20088933|PMID:2012760|PMID:20683322|PMID:2093312|PMID:21264449|PMID:21325262|PMID:2229057|PMID:22398878|PMID:22481271|PMID:22498748|PMID:22627591|PMID:23329010|PMID:23358206|PMID:2336381|PMID:2349545|PMID:2363123|PMID:2365065|PMID:2372510|PMID:23910795|PMID:23932013|PMID:24055113|PMID:24072242|PMID:24082793|PMID:24121110|PMID:24158114|PMID:24162787|PMID:24196373|PMID:24956267|PMID:25298121|PMID:25312341|PMID:25341889|PMID:25466846|PMID:25522812|PMID:25637381|PMID:25741868|PMID:25837307|PMID:2602168|PMID:2615648|PMID:26748602|PMID:27098529|PMID:27283015|PMID:27322195|PMID:27749296|PMID:27838551|PMID:2794060|PMID:28166811|PMID:28174134|PMID:28300866|PMID:28317092|PMID:28492532|PMID:28607330|PMID:28743742|PMID:29071478|PMID:29153735|PMID:2917133|PMID:29215785|PMID:29296762|PMID:29662868|PMID:29708875|PMID:2983542|PMID:29902631|PMID:30046692|PMID:3055413|PMID:30721820|PMID:3080419|PMID:31030036|PMID:31064749|PMID:31157679|PMID:3141397|PMID:3162733|PMID:3169232|PMID:3179438|PMID:3179448|PMID:3187951|PMID:31885188|PMID:3191114|PMID:3238650|PMID:33367661|PMID:3350974|PMID:3360140|PMID:33614741|PMID:33917853|PMID:3413737|PMID:34355501|PMID:3472589|PMID:34800304|PMID:3512602|PMID:3563966|PMID:3563974|PMID:3567355|PMID:3580302|PMID:3605071|PMID:3663508|PMID:3715788|PMID:3775688|PMID:3805013|PMID:3828226|PMID:3960724|PMID:4049307|PMID:4082101|PMID:6204398|PMID:6572945|PMID:6582486|PMID:6636045|PMID:6871107|PMID:6871478|PMID:7082587|PMID:7455996|PMID:7734360|PMID:7863481|PMID:7949130|PMID:7981186|PMID:7989582|PMID:8217824|PMID:8274732|PMID:8401542|PMID:8443391|PMID:8476848|PMID:8486379|PMID:8664906|PMID:9157604|PMID:9493570|PMID:9536098|PMID:9845533 11748212 SERPINC1 serpin family C member 1 gene DOID:3755 antithrombin III deficiency susceptibility ISO RGD:1316583 D RGD:9068941 20200609 RGD PMID:3162535|REF_RGD_ID:1599321 11748212 SERPINC1 serpin family C member 1 gene DOID:4193 intracranial thrombosis ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6636041 11748212 SERPINC1 serpin family C member 1 gene DOID:630 genetic disease ISO RGD:1316583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11748212 SERPINC1 serpin family C member 1 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1316583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 11748212 SERPINC1 serpin family C member 1 gene DOID:8805 intermediate coronary syndrome treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD PMID:8122184|REF_RGD_ID:11035255 11748212 SERPINC1 serpin family C member 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD PMID:15792522|REF_RGD_ID:1599333 11748212 SERPINC1 serpin family C member 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1316584 D RGD:9068941 20200609 RGD associated with Melanoma PMID:16440418|REF_RGD_ID:1599327 11748212 SERPINC1 serpin family C member 1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD associated with Adenocarcinoma, Colon PMID:16440418|REF_RGD_ID:1599327 11748212 SERPINC1 serpin family C member 1 gene DOID:9000998 Brain Injuries ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21534203 11748212 SERPINC1 serpin family C member 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD associated with Inflammatory Bowel Diseases PMID:16124052|REF_RGD_ID:1599330 11748212 SERPINC1 serpin family C member 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7923645 11748212 SERPINC1 serpin family C member 1 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:1307404 D RGD:9068941 20200609 RGD PMID:24726586|REF_RGD_ID:10450597 11748212 SERPINC1 serpin family C member 1 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD PMID:8589354|REF_RGD_ID:11038771 11748212 SERPINC1 serpin family C member 1 gene DOID:9002457 Experimental Arthritis ISO RGD:1307404 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:22781611|REF_RGD_ID:11035273 11748212 SERPINC1 serpin family C member 1 gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD associated with Peritonitis PMID:18458955|REF_RGD_ID:11035266 11748212 SERPINC1 serpin family C member 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6636041 11748212 SERPINC1 serpin family C member 1 gene DOID:9002906 Multiple Organ Failure disease_progression ISO RGD:1316583 D RGD:9068941 20200609 RGD associated with Disseminated Intravascular Coagulation PMID:9630308|REF_RGD_ID:11035250 11748212 SERPINC1 serpin family C member 1 gene DOID:9003121 Thromboembolism ISO RGD:1316583 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thromboembolism PMID:1483705|PMID:1977621|PMID:25741868|PMID:28492532|PMID:31064749|PMID:3472589 11748212 SERPINC1 serpin family C member 1 gene DOID:9003505 Venous Thromboembolism ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:453287 11748212 SERPINC1 serpin family C member 1 gene DOID:9003871 Venous Thrombosis ISO RGD:1316583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:1483705|PMID:1555650|PMID:1977621|PMID:22498748|PMID:2336381|PMID:24072242|PMID:24158114|PMID:25741868|PMID:26748602|PMID:28492532|PMID:29215785|PMID:31064749|PMID:3472589 11748212 SERPINC1 serpin family C member 1 gene DOID:9004590 Acute Liver Failure ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4089794 11748212 SERPINC1 serpin family C member 1 gene DOID:9004590 Acute Liver Failure treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD PMID:22563168|REF_RGD_ID:11035263 11748212 SERPINC1 serpin family C member 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:17940748|REF_RGD_ID:11035256 11748212 SERPINC1 serpin family C member 1 gene DOID:9004649 Heat Stroke treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD associated with Inflammation PMID:20047080|REF_RGD_ID:10402179 11748212 SERPINC1 serpin family C member 1 gene DOID:9005036 Bacteremia treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD PMID:2679067|REF_RGD_ID:11035251 11748212 SERPINC1 serpin family C member 1 gene DOID:9005372 Inflammation ISO RGD:1307404 D RGD:9068941 20200609 RGD PMID:17850787|REF_RGD_ID:11035259 11748212 SERPINC1 serpin family C member 1 gene DOID:9005372 Inflammation treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD associated with Reperfusion Injury PMID:16095456|REF_RGD_ID:1599331 11748212 SERPINC1 serpin family C member 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:1307404 D RGD:9068941 20200609 RGD PMID:22309505|PMID:24671746|REF_RGD_ID:11035271|REF_RGD_ID:11035293 11748212 SERPINC1 serpin family C member 1 gene DOID:9005930 Endotoxemia ISO RGD:1307404 D RGD:9068941 20200609 RGD PMID:15995859|PMID:20519137|PMID:21396682|REF_RGD_ID:1599332|REF_RGD_ID:5147765|REF_RGD_ID:5147779 11748212 SERPINC1 serpin family C member 1 gene DOID:9005930 Endotoxemia treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD PMID:16457847|REF_RGD_ID:1599326 11748212 SERPINC1 serpin family C member 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1307404 D RGD:9068941 20201211 RGD PMID:26108065|REF_RGD_ID:11354006 11748212 SERPINC1 serpin family C member 1 gene DOID:9006223 Kidney Reperfusion Injury severity ISO RGD:1307404 D RGD:9068941 20200609 RGD PMID:26108065|REF_RGD_ID:11354006 11748212 SERPINC1 serpin family C member 1 gene DOID:9007096 Stroke ISO RGD:1316583 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868 11748212 SERPINC1 serpin family C member 1 gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD PMID:19546838|REF_RGD_ID:11035262 11748212 SERPINC1 serpin family C member 1 gene DOID:9007621 Craniocerebral Trauma ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8810955 11748212 SERPINC1 serpin family C member 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1316583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 11748212 SERPINC1 serpin family C member 1 gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:1307404 D RGD:9068941 20200609 RGD PMID:21046505|REF_RGD_ID:11035258 11748212 SERPINC1 serpin family C member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11748212 SERPINC1 serpin family C member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1316583 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:7974333|REF_RGD_ID:2312416 11748227 SAPCD2 suppressor APC domain containing 2 gene DOID:0050777 Joubert syndrome ISO RGD:1345696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11748227 SAPCD2 suppressor APC domain containing 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1345696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11748227 SAPCD2 suppressor APC domain containing 2 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1345696 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11748227 SAPCD2 suppressor APC domain containing 2 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1345696 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11748227 SAPCD2 suppressor APC domain containing 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1345696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11748227 SAPCD2 suppressor APC domain containing 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1345696 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11748227 SAPCD2 suppressor APC domain containing 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1345696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 11748227 SAPCD2 suppressor APC domain containing 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1345696 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11748227 SAPCD2 suppressor APC domain containing 2 gene DOID:0080600 COVID-19 ISO RGD:1345696 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11748227 SAPCD2 suppressor APC domain containing 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1345696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11748227 SAPCD2 suppressor APC domain containing 2 gene DOID:1826 epilepsy ISO RGD:1345696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11748227 SAPCD2 suppressor APC domain containing 2 gene DOID:3652 Leigh disease ISO RGD:1345696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11748227 SAPCD2 suppressor APC domain containing 2 gene DOID:630 genetic disease ISO RGD:1345696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748227 SAPCD2 suppressor APC domain containing 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1345696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11748236 PDE4B phosphodiesterase 4B gene DOID:1059 intellectual disability ISO RGD:733361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11748236 PDE4B phosphodiesterase 4B gene DOID:12849 autistic disorder ISO RGD:733361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18090323 11748236 PDE4B phosphodiesterase 4B gene DOID:1574 alcohol use disorder ISO RGD:733361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 11748236 PDE4B phosphodiesterase 4B gene DOID:2841 asthma ISO RGD:733361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21912604 11748236 PDE4B phosphodiesterase 4B gene DOID:3312 bipolar disorder ISO RGD:733361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18394866 11748236 PDE4B phosphodiesterase 4B gene DOID:37 skin disease ISO RGD:733361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11748236 PDE4B phosphodiesterase 4B gene DOID:5419 schizophrenia ISO RGD:733361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16293762|PMID:18394866 11748236 PDE4B phosphodiesterase 4B gene DOID:630 genetic disease ISO RGD:733361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748236 PDE4B phosphodiesterase 4B gene DOID:670 amphetamine abuse ISO RGD:733361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11748236 PDE4B phosphodiesterase 4B gene DOID:9007102 Myocardial Ischemia ISO RGD:733361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11748236 PDE4B phosphodiesterase 4B gene DOID:9007730 Burns ISO RGD:3280 D RGD:9068941 20200609 RGD mRNA:increased expression:extensor digitorum longus muscle PMID:29693432|REF_RGD_ID:13782127 11748236 PDE4B phosphodiesterase 4B gene DOID:9007964 Arsenic Poisoning ISO RGD:733361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11748236 PDE4B phosphodiesterase 4B gene DOID:9119 acute myeloid leukemia ISO RGD:733361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11748273 CPD carboxypeptidase D gene DOID:0111253 neurofibromatosis 1 ISO RGD:731463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 11748273 CPD carboxypeptidase D gene DOID:630 genetic disease ISO RGD:731463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748298 ZFP36L1 ZFP36 ring finger protein like 1 gene DOID:0080600 COVID-19 ISO RGD:732154 D RGD:9068941 20200709 RGD mRNA:decreased expression:memory B cells (human) PMID:32377375|REF_RGD_ID:32716422 11748298 ZFP36L1 ZFP36 ring finger protein like 1 gene DOID:630 genetic disease ISO RGD:732154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748304 SYT13 synaptotagmin 13 gene DOID:1059 intellectual disability ISO RGD:735243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11748304 SYT13 synaptotagmin 13 gene DOID:630 genetic disease ISO RGD:735243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748304 SYT13 synaptotagmin 13 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735243 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 11748314 MYL6 myosin light chain 6 gene DOID:630 genetic disease ISO RGD:1313756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748327 HTT huntingtin gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:68472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 11748327 HTT huntingtin gene DOID:12858 Huntington's disease ISO RGD:68472 D RGD:7240710 20180130 OMIM 11748327 HTT huntingtin gene DOID:12858 Huntington's disease ISO RGD:68472 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Huntington disease PMID:25741868|PMID:28492532 11748327 HTT huntingtin gene DOID:12858 Huntington's disease onset ISO RGD:68472 D RGD:9068941 20200609 RGD DNA:repeats:cds:CAG (human) PMID:8242074|REF_RGD_ID:10403029 11748327 HTT huntingtin gene DOID:12858 Huntington's disease treatment ISO RGD:68472 D RGD:9068941 20200609 RGD PMID:17940007|REF_RGD_ID:10403026 11748327 HTT huntingtin gene DOID:14330 Parkinson's disease ISO RGD:68472 D RGD:9068941 20200609 RGD PMID:26192120|REF_RGD_ID:13452383 11748327 HTT huntingtin gene DOID:1856 cherubism ISO RGD:68472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11748327 HTT huntingtin gene DOID:1969 cerebral palsy ISO RGD:68472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 11748327 HTT huntingtin gene DOID:224 transient cerebral ischemia ISO RGD:68337 D RGD:9068941 20200609 RGD protein:increased degradation:brain PMID:12957494|REF_RGD_ID:1304431 11748327 HTT huntingtin gene DOID:480 movement disease ISO RGD:68472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20929960 11748327 HTT huntingtin gene DOID:630 genetic disease ISO RGD:68472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748327 HTT huntingtin gene DOID:9000304 Manganese Poisoning ISO RGD:68472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19845833 11748327 HTT huntingtin gene DOID:9000409 Lopes-Maciel-Rodan Syndrome ISO RGD:68472 D RGD:7240710 20190315 OMIM 11748327 HTT huntingtin gene DOID:9000409 Lopes-Maciel-Rodan Syndrome ISO RGD:68472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lopes-Maciel-Rodan syndrome PMID:25741868|PMID:26740508|PMID:27329733|PMID:28492532|PMID:33116287 11748327 HTT huntingtin gene DOID:9001191 Cadmium Poisoning ISO RGD:68472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19845833 11748397 CLXN calaxin gene DOID:0111961 immunodeficiency 26 ISO RGD:1603006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency PMID:28492532 11748397 CLXN calaxin gene DOID:630 genetic disease ISO RGD:1603006 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748414 SCHIP1 schwannomin interacting protein 1 gene DOID:630 genetic disease ISO RGD:1320587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748426 CDCP1 CUB domain containing protein 1 gene DOID:2661 myoepithelioma ISO RGD:1601855 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11748426 CDCP1 CUB domain containing protein 1 gene DOID:303 substance-related disorder ISO RGD:1601855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11748426 CDCP1 CUB domain containing protein 1 gene DOID:630 genetic disease ISO RGD:1601855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748446 ZSCAN10 zinc finger and SCAN domain containing 10 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1321829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11748446 ZSCAN10 zinc finger and SCAN domain containing 10 gene DOID:10003 sensorineural hearing loss ISO RGD:1321829 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 11748446 ZSCAN10 zinc finger and SCAN domain containing 10 gene DOID:1826 epilepsy ISO RGD:1321829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11748446 ZSCAN10 zinc finger and SCAN domain containing 10 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1321829 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11748446 ZSCAN10 zinc finger and SCAN domain containing 10 gene DOID:630 genetic disease ISO RGD:1321829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748463 PANX2 pannexin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1349764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 11748463 PANX2 pannexin 2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1349764 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 11748463 PANX2 pannexin 2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1349764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11748463 PANX2 pannexin 2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1349764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 11748463 PANX2 pannexin 2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1349764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 11748463 PANX2 pannexin 2 gene DOID:1059 intellectual disability ISO RGD:1349764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11748463 PANX2 pannexin 2 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1349764 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 11748463 PANX2 pannexin 2 gene DOID:630 genetic disease ISO RGD:1349764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748471 EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase gene DOID:0080757 Fanconi renotubular syndrome 1 ISO RGD:1349142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi renotubular syndrome 1 PMID:25741868 11748471 EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase gene DOID:0080759 Fanconi renotubular syndrome 3 ISO RGD:1349142 D RGD:7240710 20190327 OMIM 11748471 EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase gene DOID:0080759 Fanconi renotubular syndrome 3 ISO RGD:1349142 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi renotubular syndrome 3 PMID:1627757|PMID:24401050|PMID:25741868|PMID:35738466 11748471 EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase gene DOID:0111546 Currarino syndrome ISO RGD:1349142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11748471 EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase gene DOID:1062 Fanconi syndrome ISO RGD:1349142 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11748471 EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase gene DOID:303 substance-related disorder ISO RGD:1349142 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11748471 EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase gene DOID:630 genetic disease ISO RGD:1349142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748471 EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase gene DOID:784 chronic kidney disease ISO RGD:1349142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 11748471 EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349142 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11748493 PCDH20 protocadherin 20 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1314837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11748493 PCDH20 protocadherin 20 gene DOID:630 genetic disease ISO RGD:1314837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748506 GPM6A glycoprotein M6A gene DOID:630 genetic disease ISO RGD:736321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748506 GPM6A glycoprotein M6A gene DOID:684 hepatocellular carcinoma ISO RGD:736321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11748506 GPM6A glycoprotein M6A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11748522 HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 gene DOID:0050632 oculocutaneous albinism ISO RGD:1605436 D RGD:9068941 20200609 RGD associated with Hermanski-Pudlak Syndrome;DNA:mutations:multiple: PMID:16185271|REF_RGD_ID:11354899 11748522 HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 gene DOID:0060539 Hermansky-Pudlak syndrome 1 ISO RGD:1605436 D RGD:7240710 20180130 OMIM 11748522 HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 gene DOID:0060539 Hermansky-Pudlak syndrome 1 ISO RGD:1605436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1 PMID:10971344|PMID:12442288|PMID:14510955|PMID:15952982|PMID:16185271|PMID:16199547|PMID:17365864|PMID:17576681|PMID:18326704|PMID:19334085|PMID:20301464|PMID:20514622|PMID:20662851|PMID:21458243|PMID:21833017|PMID:24033266|PMID:24583434|PMID:25741868|PMID:26785811|PMID:26806224|PMID:27593200|PMID:28081892|PMID:28492532|PMID:29941477|PMID:30634918|PMID:31064749|PMID:31141302|PMID:32581362|PMID:8274781|PMID:8896559|PMID:9345105|PMID:9497254|PMID:9536098|PMID:9562579|PMID:9705234 11748522 HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 gene DOID:0060542 Hermansky-Pudlak syndrome 4 ISO RGD:1605436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome with pulmonary fibrosis PMID:12442288|PMID:16185271|PMID:25741868|PMID:28492532 11748522 HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 gene DOID:2223 platelet storage pool deficiency ISO RGD:69205 D RGD:9068941 20220825 MouseDO OMIM:185050 11748522 HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1605436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:12442288|PMID:14510955|PMID:15952982|PMID:16185271|PMID:16199547|PMID:17365864|PMID:19334085|PMID:19398212|PMID:19665357|PMID:20301464|PMID:20514622|PMID:20662851|PMID:21458243|PMID:23103514|PMID:24033266|PMID:25741868|PMID:26575419|PMID:26785811|PMID:26806224|PMID:27593200|PMID:28081892|PMID:28492532|PMID:29941477|PMID:30387913|PMID:30985222|PMID:31064749|PMID:31141302|PMID:31898847|PMID:32581362|PMID:8274781|PMID:8896559|PMID:9345105|PMID:9497254|PMID:9562579|PMID:9705234 11748522 HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 gene DOID:630 genetic disease ISO RGD:1605436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12442288|PMID:16185271|PMID:20662851|PMID:24033266|PMID:25741868|PMID:27593200|PMID:28492532|PMID:8896559|PMID:9345105|PMID:9497254|PMID:9562579 11748576 ABHD14B abhydrolase domain containing 14B gene DOID:630 genetic disease ISO RGD:1603002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748606 WDR91 WD repeat domain 91 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606020 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11748606 WDR91 WD repeat domain 91 gene DOID:630 genetic disease ISO RGD:1606020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748632 RET ret proto-oncogene gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:735296 D RGD:7240710 20180130 OMIM 11748632 RET ret proto-oncogene gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a | ClinVar Annotator: match by term: PTC syndrome PMID:22174939|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22648435|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22734615|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23400839|PMID:23407919|PMID:23416954|PMID:23441071|PMID:23461807|PMID:23468374|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24064755|PMID:24134185|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24449023|PMID:24449676|PMID:24561444|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698|PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24897126|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25143909|PMID:25157968|PMID:25256751|PMID:25319874|PMID:25326637|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25767701|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26845104|PMID:26876062|PMID:26920351|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27798940|PMID:27807060|PMID:27809725|PMID:27847096|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28125075|PMID:28166811|PMID:28202063|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29097883|PMID:29133048|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29312610|PMID:29338689|PMID:29396759|PMID:29408964|PMID:29420094|PMID:29549836|PMID:29590403|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:29850289|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30446652|PMID:30624503|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30884088|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31614935|PMID:31937788|PMID:32091409|PMID:32099073|PMID:32179705|PMID:32283892|PMID:32375120|PMID:32430905|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33433679|PMID:33532864|PMID:33827484|PMID:33981013|PMID:34771502|PMID:35535697|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114939|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8626834|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9068588|PMID:9075701|PMID:9090527|PMID:9097963|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9150704|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724 11748632 RET ret proto-oncogene gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a | ClinVar Annotator: match by term: PTC syndrome PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9760196|PMID:9764818|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9868860|PMID:9879991|PMID:9950371 11748632 RET ret proto-oncogene gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a | ClinVar Annotator: match by term: PTC syndrome PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10220148|PMID:10235148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10465268|PMID:10484767|PMID:10490816|PMID:10521317|PMID:10522989|PMID:10528857|PMID:10549772|PMID:10612852|PMID:10618407|PMID:10646792|PMID:10664228|PMID:10679286|PMID:10777380|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10946353|PMID:10980580|PMID:10982477|PMID:11061555|PMID:11073534|PMID:11114642|PMID:11149622|PMID:11230481|PMID:11238493|PMID:11295841|PMID:11313948|PMID:11331212|PMID:11351254|PMID:11386462|PMID:11389085|PMID:11390647|PMID:11395220|PMID:11436122|PMID:11454140|PMID:11471675|PMID:11502806|PMID:11524247|PMID:11562352|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11692159|PMID:11732489|PMID:11739416|PMID:11746981|PMID:11788682|PMID:11849247|PMID:11932300|PMID:11935126|PMID:11939755|PMID:11950855|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12050290|PMID:12072055|PMID:12086152|PMID:12116277|PMID:12150334|PMID:12193298|PMID:12214285|PMID:12409662|PMID:12410354|PMID:12466368|PMID:12490841|PMID:12566528|PMID:12604374|PMID:12640453|PMID:12673960|PMID:12686527|PMID:12694233|PMID:12734540|PMID:12746565|PMID:12788868|PMID:12865274|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14517954|PMID:14557476|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15240641|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15345114|PMID:15386323|PMID:15472167|PMID:15523405|PMID:15531548|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15592804|PMID:15699703|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:15991157|PMID:16053382|PMID:16091499|PMID:16099853|PMID:16118333|PMID:16199547|PMID:16227613|PMID:16275981|PMID:16314641|PMID:16322339|PMID:16325365|PMID:16343097|PMID:16343103|PMID:16384843|PMID:16391329|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16507829|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16736292|PMID:16767674|PMID:16778204|PMID:16813623|PMID:16817830|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17032739|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17344846|PMID:17372903|PMID:17384210|PMID:17466010|PMID:17483988|PMID:17527003|PMID:17540634|PMID:17573899|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18248648|PMID:18252215|PMID:18284634|PMID:18299477|PMID:18322301|PMID:18541894|PMID:18551016|PMID:18772120|PMID:18805915|PMID:18936155|PMID:18976013|PMID:18984779|PMID:19015274|PMID:19029228|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19177457|PMID:19201392|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19366855|PMID:19399650|PMID:19443294|PMID:19445625|PMID:19469690|PMID:19472011|PMID:19475497|PMID:19522830|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20013610|PMID:20039896|PMID:20041006|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20087666|PMID:20103606|PMID:20119574|PMID:20123584|PMID:20142552|PMID:20152359|PMID:20368568|PMID:20369307|PMID:20442138|PMID:20454948|PMID:20456320|PMID:20473317|PMID:20494215|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20598273|PMID:20664475|PMID:20719260|PMID:20739875|PMID:20801952|PMID:20833330|PMID:20847059|PMID:20943719|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21134561|PMID:21186952|PMID:21253810|PMID:21254918|PMID:21309721 11748632 RET ret proto-oncogene gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a | ClinVar Annotator: match by term: PTC syndrome PMID:21311890|PMID:21349203|PMID:21422799|PMID:21422803|PMID:21454698|PMID:21455200|PMID:21470995|PMID:21475823|PMID:21479187|PMID:21490379|PMID:21542403|PMID:21551259|PMID:21606412|PMID:21626080|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21900877|PMID:21934104|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22136840|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584703|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22648435|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22734615|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23140918|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23400839|PMID:23407919|PMID:23416954|PMID:23441071|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23526464|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24449676|PMID:24560924|PMID:24561444|PMID:24569963|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698|PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24897126|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25143909|PMID:25157968|PMID:25244518|PMID:25256751|PMID:25319874|PMID:25326637|PMID:25349307|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25569433|PMID:25624014|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25767701|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25903693|PMID:25985138|PMID:26033033|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26254625|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26758973|PMID:26845104|PMID:26876062|PMID:26883533|PMID:26920351|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27349013|PMID:27379493|PMID:27400880|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27704398|PMID:27798940|PMID:27807060|PMID:27809725|PMID:27838608|PMID:27847096|PMID:27884173|PMID:27986441|PMID:27994876|PMID:28018431|PMID:28099363|PMID:28125075|PMID:28137737|PMID:28202063|PMID:28276298|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28747092|PMID:28799054|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29077903|PMID:29097883|PMID:29133048|PMID:29192238|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29312610|PMID:29338689|PMID:29396759|PMID:29408964|PMID:29420094|PMID:29515777|PMID:29549836|PMID:29590403|PMID:29601828|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:29850289|PMID:30031151|PMID:30122538|PMID:30172768|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30446652|PMID:30550378|PMID:30583724|PMID:30618340|PMID:30624503|PMID:30660595|PMID:30666164|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30884088|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31300450|PMID:31428572|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31614935|PMID:31658439|PMID:31666091|PMID:31937788|PMID:31983649|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32430905|PMID:32732076 11748632 RET ret proto-oncogene gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a | ClinVar Annotator: match by term: PTC syndrome PMID:32761341|PMID:32823925|PMID:32923848|PMID:32989896|PMID:33084974|PMID:33167350|PMID:33340421|PMID:33433679|PMID:33450337|PMID:33532864|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34358225|PMID:34646395|PMID:34771502|PMID:34925234|PMID:35535697|PMID:36251279|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8626834|PMID:8654369|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8852653|PMID:8855832|PMID:8894691|PMID:8896569|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9068588|PMID:9075701|PMID:9090527|PMID:9097963|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9150704|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9294615|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681515|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9745455|PMID:9760196|PMID:9764818|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9868860|PMID:9879991|PMID:9950371 11748632 RET ret proto-oncogene gene DOID:0050547 familial medullary thyroid carcinoma ISO RGD:735296 D RGD:7240710 20180130 OMIM 11748632 RET ret proto-oncogene gene DOID:0050547 familial medullary thyroid carcinoma ISO RGD:735296 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary PMID:10024437|PMID:10076558|PMID:10220148|PMID:10235148|PMID:10323403|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10490816|PMID:10549772|PMID:10646792|PMID:10679286|PMID:10777380|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10982477|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11351254|PMID:11386462|PMID:11436122|PMID:11454140|PMID:11471675|PMID:11562352|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11932300|PMID:11935126|PMID:11939755|PMID:12000816|PMID:12019403|PMID:12116277|PMID:12150334|PMID:12193298|PMID:12409662|PMID:12410354|PMID:12490841|PMID:12566528|PMID:12686527|PMID:12694233|PMID:12788868|PMID:12920219|PMID:14517954|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14633923|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15240641|PMID:15277225|PMID:15292360|PMID:15345114|PMID:15386323|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15753368|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15991157|PMID:16118333|PMID:16275981|PMID:16314641|PMID:16325365|PMID:16343097|PMID:16384843|PMID:16441254|PMID:16469774|PMID:16507829|PMID:16525712|PMID:16532227|PMID:16649977|PMID:16705552|PMID:16712668|PMID:16715139|PMID:16736292|PMID:16813623|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17021738|PMID:17032739|PMID:17047083|PMID:17097365|PMID:17108110|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17384210|PMID:17466010|PMID:17483988|PMID:17540634|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18248648|PMID:18252215|PMID:18299477|PMID:18541894|PMID:18805915|PMID:18984779|PMID:19041016|PMID:19169500|PMID:19201392|PMID:19255327|PMID:19445625|PMID:19469690|PMID:19472011|PMID:19826964|PMID:19906784|PMID:19958926|PMID:20039896|PMID:20041006|PMID:20065189|PMID:20080836|PMID:20087666|PMID:20103606|PMID:20142552|PMID:20368568|PMID:20369307|PMID:20442138|PMID:20494215|PMID:20497437|PMID:20516206|PMID:20554711|PMID:20719260|PMID:20739875|PMID:20833330|PMID:20847059|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21134561|PMID:21253810|PMID:21254918|PMID:21309721|PMID:21311890|PMID:21422799|PMID:21422803|PMID:21454698|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21626080|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21711375|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22359510|PMID:22403753|PMID:22584710|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23526464|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:24033266|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24449023|PMID:24569963|PMID:24616773|PMID:24617864|PMID:24684035|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24805091|PMID:24845513|PMID:25157968|PMID:25319874|PMID:25349307|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25624014|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25759805|PMID:25767701|PMID:25810047|PMID:25887804|PMID:25903693|PMID:26033033|PMID:26046350|PMID:26084817|PMID:26230854|PMID:26247112|PMID:26254625|PMID:26269449|PMID:26356818|PMID:26395553|PMID:26467025|PMID:2660074|PMID:26678667|PMID:26687385|PMID:26758973|PMID:26845104|PMID:26920351|PMID:27099842|PMID:27153395|PMID:27539324|PMID:27673361|PMID:27807060|PMID:27809725|PMID:27884173|PMID:27994876|PMID:28125075|PMID:28137737|PMID:28323957|PMID:28492532|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29026273|PMID:29097883|PMID:29192238|PMID:29396759|PMID:29408964|PMID:29420094|PMID:29549836 11748632 RET ret proto-oncogene gene DOID:0050547 familial medullary thyroid carcinoma ISO RGD:735296 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary PMID:29590403|PMID:29625052|PMID:29656518|PMID:29684080|PMID:29790872|PMID:30172768|PMID:30392857|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30884088|PMID:30927507|PMID:31447099|PMID:31510104|PMID:31937788|PMID:32164334|PMID:32179705|PMID:32293499|PMID:32732076|PMID:32923848|PMID:33084974|PMID:33167350|PMID:33450337|PMID:33827484|PMID:35535697|PMID:3697657|PMID:7536460|PMID:7595170|PMID:7633441|PMID:7647787|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8099202|PMID:8103403|PMID:8114940|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8626834|PMID:8675603|PMID:8733882|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9067749|PMID:9090527|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9174404|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9498388|PMID:9506724|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9727738|PMID:9745455|PMID:9760196|PMID:9824583|PMID:9839497|PMID:9868860|PMID:9879991|PMID:9950371 11748632 RET ret proto-oncogene gene DOID:0050771 pheochromocytoma ISO RGD:735296 D RGD:7240710 20180130 OMIM 11748632 RET ret proto-oncogene gene DOID:0050771 pheochromocytoma ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:10369718|PMID:10445857|PMID:10522989|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10980580|PMID:11230481|PMID:11238493|PMID:11351254|PMID:11389085|PMID:11436122|PMID:11524247|PMID:11589684|PMID:11732489|PMID:11939755|PMID:11950855|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12150334|PMID:12214285|PMID:12466368|PMID:12566528|PMID:12604374|PMID:12686527|PMID:12746565|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:15184865|PMID:15277225|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15588376|PMID:15592804|PMID:15741265|PMID:15753368|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16091499|PMID:16099853|PMID:16118333|PMID:16314641|PMID:16424056|PMID:16441254|PMID:16525712|PMID:16532227|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16715139|PMID:16732321|PMID:16778204|PMID:16817830|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17065770|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17270543|PMID:17316110|PMID:17384210|PMID:17483988|PMID:17540634|PMID:17573899|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18209889|PMID:18252215|PMID:18284634|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19201392|PMID:19255327|PMID:19269918|PMID:19399650|PMID:19469690|PMID:19522830|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19906784|PMID:20039896|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20123584|PMID:20368568|PMID:20454948|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20943719|PMID:20956458|PMID:20981092|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22395866|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22900816|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23416954|PMID:23441071|PMID:23461807|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24331334|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24561444|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24784869|PMID:24845513|PMID:24897126|PMID:25027091|PMID:25143909|PMID:25157968|PMID:25256751|PMID:25425582|PMID:25440022|PMID:25515555|PMID:25637381|PMID:25741868|PMID:25810047|PMID:25985138|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26332594|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26732158|PMID:26920351|PMID:27077130|PMID:27153395|PMID:27379493|PMID:27539324|PMID:27600092|PMID:27698838|PMID:27798940|PMID:27807060|PMID:27884173|PMID:28099363|PMID:28166811|PMID:28469506|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29026273|PMID:2904651|PMID:29133048|PMID:29192238|PMID:29197744|PMID:29263839|PMID:29420094|PMID:29549836|PMID:29642553|PMID:30217742|PMID:30306255|PMID:30392857|PMID:30624503|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31510104|PMID:31614935|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365 11748632 RET ret proto-oncogene gene DOID:0050771 pheochromocytoma ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:8099202|PMID:8103403|PMID:8114938|PMID:8570194|PMID:8595427|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8909322|PMID:8918855|PMID:9067749|PMID:9090527|PMID:9111993|PMID:9230192|PMID:9242375|PMID:9467562|PMID:9506724|PMID:9620546|PMID:9681850|PMID:9699127|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9950371 11748632 RET ret proto-oncogene gene DOID:0050771 pheochromocytoma ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:10369718|PMID:10445857|PMID:10522989|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10980580|PMID:11230481|PMID:11238493|PMID:11351254|PMID:11389085|PMID:11436122|PMID:11524247|PMID:11589684|PMID:11732489|PMID:11939755|PMID:11950855|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12150334|PMID:12214285|PMID:12466368|PMID:12566528|PMID:12604374|PMID:12686527|PMID:12746565|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:15184865|PMID:15277225|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15588376|PMID:15592804|PMID:15741265|PMID:15753368|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16091499|PMID:16099853|PMID:16118333|PMID:16314641|PMID:16424056|PMID:16441254|PMID:16525712|PMID:16532227|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16715139|PMID:16732321|PMID:16778204|PMID:16817830|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17065770|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17270543|PMID:17316110|PMID:17384210|PMID:17483988|PMID:17540634|PMID:17573899|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18209889|PMID:18252215|PMID:18284634|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19201392|PMID:19255327|PMID:19269918|PMID:19399650|PMID:19469690|PMID:19522830|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19906784|PMID:20039896|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20123584|PMID:20368568|PMID:20454948|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20943719|PMID:20956458|PMID:20981092|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22395866|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22900816|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23416954|PMID:23441071|PMID:23461807|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24331334|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24561444|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24784869|PMID:24845513|PMID:24897126|PMID:25027091|PMID:25143909|PMID:25157968|PMID:25256751|PMID:25326637|PMID:25425582|PMID:25440022|PMID:25515555|PMID:25569433|PMID:25628771|PMID:25637381|PMID:25741868|PMID:25810047|PMID:25985138|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26332594|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26732158|PMID:26883533|PMID:26920351|PMID:27077130|PMID:27153395|PMID:27379493|PMID:27539324|PMID:27600092|PMID:27698838|PMID:27798940|PMID:27807060|PMID:27884173|PMID:28099363|PMID:28469506|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29026273|PMID:2904651|PMID:29133048|PMID:29192238|PMID:29197744|PMID:29263839|PMID:29420094|PMID:29549836|PMID:29642553|PMID:30217742|PMID:30306255|PMID:30392857|PMID:30583724|PMID:30624503|PMID:30660595|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31510104|PMID:31614935|PMID:31658439|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33827484|PMID:34925234|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7835899 11748632 RET ret proto-oncogene gene DOID:0050771 pheochromocytoma ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:7845675|PMID:7849700|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8570194|PMID:8595427|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8909322|PMID:8918855|PMID:9067749|PMID:9090527|PMID:9111993|PMID:9230192|PMID:9242375|PMID:9467562|PMID:9506724|PMID:9620546|PMID:9681850|PMID:9699127|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9950371 11748632 RET ret proto-oncogene gene DOID:0050902 medulloblastoma ISO RGD:735296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:11436122|PMID:24033266|PMID:25741868|PMID:28492532 11748632 RET ret proto-oncogene gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:735296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital central hypoventilation PMID:10076558|PMID:10090908|PMID:10618407|PMID:10679286|PMID:10826520|PMID:10876191|PMID:11114642|PMID:11238493|PMID:11732489|PMID:11788682|PMID:12019403|PMID:12086152|PMID:12193298|PMID:12410354|PMID:14557476|PMID:14633923|PMID:15184865|PMID:15386323|PMID:15741265|PMID:15858153|PMID:16325365|PMID:16343097|PMID:16532227|PMID:16849421|PMID:16865647|PMID:16868135|PMID:17032739|PMID:17047083|PMID:17108762|PMID:17316110|PMID:17384210|PMID:17466010|PMID:17590169|PMID:17605401|PMID:17664273|PMID:17704047|PMID:17895320|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18299477|PMID:19445625|PMID:19958926|PMID:20013610|PMID:20039896|PMID:20041006|PMID:20142552|PMID:20369307|PMID:20473317|PMID:20494215|PMID:20516206|PMID:20532249|PMID:20719260|PMID:20979234|PMID:21134561|PMID:21309721|PMID:21454698|PMID:21475823|PMID:21479187|PMID:21711375|PMID:21712996|PMID:21810974|PMID:22174939|PMID:22584709|PMID:22703879|PMID:23084198|PMID:23259706|PMID:23341727|PMID:23468374|PMID:23514012|PMID:24033266|PMID:24336963|PMID:24361808|PMID:24617864|PMID:24728327|PMID:25349307|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25624014|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25903693|PMID:26033033|PMID:26034076|PMID:26046350|PMID:26467025|PMID:26559152|PMID:26580448|PMID:26758973|PMID:26845104|PMID:27099842|PMID:28125075|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29590403|PMID:29625052|PMID:29656518|PMID:29684080|PMID:3078962|PMID:31510104|PMID:32923848|PMID:33167350|PMID:33450337|PMID:33827484|PMID:7824936|PMID:7835899|PMID:7907913|PMID:7915165|PMID:8099202|PMID:8626834|PMID:8797874|PMID:8896569|PMID:9067749|PMID:9174404|PMID:9230192|PMID:9452077|PMID:9498388|PMID:9606292|PMID:9839497|PMID:9868860|PMID:9879991 11748632 RET ret proto-oncogene gene DOID:0080137 multiple endocrine neoplasia type 4 ISO RGD:735296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV | ClinVar Annotator: match by term: Multiple endocrine neoplasia type 4 PMID:10024437|PMID:10076558|PMID:10220148|PMID:10235148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10490816|PMID:10522989|PMID:10679286|PMID:10790203|PMID:11114642|PMID:11230481|PMID:11351254|PMID:11386462|PMID:11389085|PMID:11524247|PMID:11562352|PMID:11688458|PMID:11739416|PMID:11849247|PMID:11935126|PMID:11939755|PMID:11987030|PMID:12000816|PMID:12116277|PMID:12466368|PMID:12566528|PMID:12604374|PMID:12673960|PMID:12686527|PMID:12746565|PMID:12788868|PMID:12920219|PMID:14561794|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15345114|PMID:15472167|PMID:15523405|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15753368|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15991157|PMID:16053382|PMID:16099853|PMID:16118333|PMID:16275981|PMID:16314641|PMID:16322339|PMID:16343097|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16705552|PMID:16707008|PMID:16715139|PMID:16736292|PMID:16778204|PMID:16817830|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17021738|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17384210|PMID:17483988|PMID:17527003|PMID:17540634|PMID:17573899|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18252215|PMID:18541894|PMID:18984779|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19255327|PMID:19336503|PMID:19469690|PMID:19472011|PMID:19825962|PMID:19826964|PMID:19906784|PMID:20041006|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20368568|PMID:20497437|PMID:20516206|PMID:20554711|PMID:20847059|PMID:20943719|PMID:20979234|PMID:21054478|PMID:21253810|PMID:21254918|PMID:21311890|PMID:21422799|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21655256|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22359510|PMID:22584710|PMID:22676344|PMID:22703879|PMID:22900816|PMID:22992277|PMID:23056499|PMID:23295303|PMID:23416954|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23861463|PMID:24033266|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24375508|PMID:24449023|PMID:24561444|PMID:24617864|PMID:24716929|PMID:24784869|PMID:24805091|PMID:24845513|PMID:25027091|PMID:25157968|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25887804|PMID:26046350|PMID:26084817|PMID:26269449|PMID:26356818|PMID:26467025|PMID:26556299|PMID:2660074|PMID:26678667|PMID:26732158|PMID:27153395|PMID:27539324|PMID:27698838|PMID:27807060|PMID:27994876|PMID:28099363|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28647780|PMID:28873162|PMID:28951487|PMID:2904651|PMID:29097883|PMID:29133048|PMID:29197744|PMID:29396759|PMID:29656518|PMID:29790872|PMID:30172768|PMID:30624503|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30884088|PMID:30927507|PMID:31447099|PMID:31510104|PMID:32179705|PMID:32408902|PMID:33167350|PMID:33827484|PMID:34092334|PMID:7536460|PMID:7608256|PMID:7633441|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7977365|PMID:8099202|PMID:8103403|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9067749|PMID:9090527|PMID:9111992|PMID:9146685|PMID:9150704|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9498388|PMID:9506724|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9699127|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9879991 11748632 RET ret proto-oncogene gene DOID:0080137 multiple endocrine neoplasia type 4 ISO RGD:735296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV | ClinVar Annotator: match by term: Multiple endocrine neoplasia type 4 PMID:9950371 11748632 RET ret proto-oncogene gene DOID:0080204 renal hypoplasia ISO RGD:735296 D RGD:9068941 20221110 RGD DNA:SNP:exon 7:rs1800860 (human) PMID:18820179|REF_RGD_ID:155641253 11748632 RET ret proto-oncogene gene DOID:0080205 CAKUT ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:25741868|PMID:27657687|PMID:28492532|PMID:29641532 11748632 RET ret proto-oncogene gene DOID:0080855 Parkinsonism ISO RGD:3556 D RGD:9068941 20200609 RGD mRNA:altered expression:brain PMID:12210101|REF_RGD_ID:6218972 11748632 RET ret proto-oncogene gene DOID:10016 multiple endocrine neoplasia type 2B ISO RGD:735296 D RGD:7240710 20180130 OMIM 11748632 RET ret proto-oncogene gene DOID:10016 multiple endocrine neoplasia type 2B ISO RGD:735296 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MEN 2B | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2b PMID:10024437|PMID:10076558|PMID:10220148|PMID:10235148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10490816|PMID:10522989|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10826520|PMID:10921886|PMID:11061555|PMID:11114642|PMID:11230481|PMID:11295841|PMID:11351254|PMID:11386462|PMID:11389085|PMID:11436122|PMID:11524247|PMID:11562352|PMID:11688458|PMID:11739416|PMID:11849247|PMID:11935126|PMID:11939755|PMID:11950855|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12116277|PMID:12466368|PMID:12566528|PMID:12604374|PMID:12640453|PMID:12673960|PMID:12686527|PMID:12746565|PMID:12788868|PMID:12872262|PMID:12920219|PMID:14557476|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14633923|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15345114|PMID:15472167|PMID:15523405|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15592804|PMID:15699703|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15834508|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15956201|PMID:15991157|PMID:16053382|PMID:16091499|PMID:16099853|PMID:16118333|PMID:16275981|PMID:16314641|PMID:16322339|PMID:16343097|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16736292|PMID:16767674|PMID:16778204|PMID:16817830|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17009072|PMID:17021738|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17344846|PMID:17384210|PMID:17483988|PMID:17527003|PMID:17540634|PMID:17573899|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18252215|PMID:18284634|PMID:18541894|PMID:18805915|PMID:18976013|PMID:18984779|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19255327|PMID:19336503|PMID:19443294|PMID:19469690|PMID:19472011|PMID:19825962|PMID:19826964|PMID:19906784|PMID:20013610|PMID:20039896|PMID:20041006|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20103606|PMID:20123584|PMID:20368568|PMID:20454948|PMID:20473317|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20664475|PMID:20847059|PMID:20943719|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21253810|PMID:21254918|PMID:21311890|PMID:21349203|PMID:21422799|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21475823|PMID:21479187|PMID:21490379|PMID:21542403|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21690267|PMID:21711375|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21900877|PMID:21934104|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22359510|PMID:22395866|PMID:22517557|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22900816|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23084198|PMID:23259706|PMID:23295303|PMID:23416954|PMID:23441071|PMID:23461807|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23745650|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24449023|PMID:24561444|PMID:24569963|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24716929|PMID:24728327|PMID:24745698|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24897126|PMID:25027091|PMID:25143909|PMID:25157968|PMID:25319874|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26084817|PMID:26206375|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26556299|PMID:26559152|PMID:26580448 11748632 RET ret proto-oncogene gene DOID:10016 multiple endocrine neoplasia type 2B ISO RGD:735296 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MEN 2B | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2b PMID:2660074|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26876062|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27807060|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28137737|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28578594|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:2904651|PMID:29077903|PMID:29097883|PMID:29133048|PMID:29197744|PMID:29396759|PMID:29420094|PMID:29625052|PMID:29656518|PMID:29684080|PMID:29790872|PMID:30172768|PMID:30197081|PMID:30217742|PMID:30446652|PMID:30624503|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30884088|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31666091|PMID:32164334|PMID:32179705|PMID:32293499|PMID:32408902|PMID:32989896|PMID:33084974|PMID:33167350|PMID:33340421|PMID:33827484|PMID:34092334|PMID:7536460|PMID:7581377|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7977365|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9067749|PMID:9090527|PMID:9111992|PMID:9146685|PMID:9150704|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9699127|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9879991|PMID:9950371 11748632 RET ret proto-oncogene gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:735296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 | ClinVar Annotator: match by term: Wermer syndrome PMID:10024437|PMID:10076558|PMID:10220148|PMID:10235148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10490816|PMID:10522989|PMID:10679286|PMID:10790203|PMID:11114642|PMID:11230481|PMID:11351254|PMID:11386462|PMID:11389085|PMID:11524247|PMID:11562352|PMID:11688458|PMID:11739416|PMID:11849247|PMID:11935126|PMID:11939755|PMID:11987030|PMID:12000816|PMID:12116277|PMID:12466368|PMID:12566528|PMID:12604374|PMID:12673960|PMID:12686527|PMID:12746565|PMID:12788868|PMID:12920219|PMID:14561794|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15345114|PMID:15472167|PMID:15523405|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15753368|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15991157|PMID:16053382|PMID:16099853|PMID:16118333|PMID:16275981|PMID:16314641|PMID:16322339|PMID:16343097|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16705552|PMID:16707008|PMID:16715139|PMID:16736292|PMID:16778204|PMID:16817830|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17021738|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17384210|PMID:17483988|PMID:17527003|PMID:17540634|PMID:17573899|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18252215|PMID:18541894|PMID:18984779|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19255327|PMID:19336503|PMID:19469690|PMID:19472011|PMID:19825962|PMID:19826964|PMID:19906784|PMID:20041006|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20368568|PMID:20497437|PMID:20516206|PMID:20554711|PMID:20847059|PMID:20943719|PMID:20979234|PMID:21054478|PMID:21253810|PMID:21254918|PMID:21311890|PMID:21422799|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21655256|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22359510|PMID:22584710|PMID:22676344|PMID:22703879|PMID:22900816|PMID:22992277|PMID:23056499|PMID:23295303|PMID:23416954|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23861463|PMID:24033266|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24375508|PMID:24449023|PMID:24561444|PMID:24617864|PMID:24716929|PMID:24784869|PMID:24805091|PMID:24845513|PMID:25027091|PMID:25157968|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25887804|PMID:26046350|PMID:26084817|PMID:26269449|PMID:26356818|PMID:26467025|PMID:26556299|PMID:2660074|PMID:26678667|PMID:26732158|PMID:27153395|PMID:27539324|PMID:27698838|PMID:27807060|PMID:27994876|PMID:28099363|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28647780|PMID:28873162|PMID:28951487|PMID:2904651|PMID:29097883|PMID:29133048|PMID:29197744|PMID:29396759|PMID:29656518|PMID:29790872|PMID:30172768|PMID:30624503|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30884088|PMID:30927507|PMID:31447099|PMID:31510104|PMID:32179705|PMID:32408902|PMID:33167350|PMID:33827484|PMID:34092334|PMID:7536460|PMID:7608256|PMID:7633441|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7977365|PMID:8099202|PMID:8103403|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9067749|PMID:9090527|PMID:9111992|PMID:9146685|PMID:9150704|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9498388|PMID:9506724|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9699127|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9879991 11748632 RET ret proto-oncogene gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:735296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 | ClinVar Annotator: match by term: Wermer syndrome PMID:9950371 11748632 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:7240710 20230505 OMIM 11748632 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11732489|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12409662|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12686527|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15277225|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:16118333|PMID:16322339|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16712668|PMID:16715139|PMID:16767674|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17372903|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17605401|PMID:17610518|PMID:17895320|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18280283|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19029228|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20456320|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20598273|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23461807|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24569963|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25319874|PMID:25425582|PMID:25440022|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25985138|PMID:26071011|PMID:26084817|PMID:26206375|PMID:26269449|PMID:26332594|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:28018431|PMID:28099363|PMID:28166811|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29020875|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31159747|PMID:31510104|PMID:31614935|PMID:32283892|PMID:33167350|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8894691|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9384613|PMID:9497256|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9620546 11748632 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 11748632 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11732489|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12409662|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15277225|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:16118333|PMID:16322339|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16715139|PMID:16767674|PMID:16849421|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17372903|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17605401|PMID:17610518|PMID:17895320|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18280283|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20456320|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20598273|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21688339|PMID:21690267|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23461807|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24617864|PMID:24651702|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25425582|PMID:25440022|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25985138|PMID:26071011|PMID:26084817|PMID:26206375|PMID:26269449|PMID:26332594|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:28166811|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29020875|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31159747|PMID:31510104|PMID:31614935|PMID:32179705|PMID:32283892|PMID:33167350|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9384613|PMID:9497256|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 11748632 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11732489|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12409662|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15277225|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:16118333|PMID:16322339|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16715139|PMID:16767674|PMID:16849421|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17372903|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17605401|PMID:17610518|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18280283|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20456320|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20598273|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21688339|PMID:21690267|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23461807|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24617864|PMID:24651702|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25425582|PMID:25440022|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25985138|PMID:26071011|PMID:26084817|PMID:26206375|PMID:26269449|PMID:26332594|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:27014708|PMID:27077130|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:28166811|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29020875|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31510104|PMID:31614935|PMID:32091409|PMID:32099073|PMID:32179705|PMID:32283892|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33981013|PMID:35535697|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9384613|PMID:9497256|PMID:9502784|PMID:9506724 11748632 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 PMID:9536098|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 11748632 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11732489|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12409662|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15277225|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:16118333|PMID:16322339|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16715139|PMID:16767674|PMID:16849421|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17372903|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17605401|PMID:17610518|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18280283|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20456320|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20598273|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23461807|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24617864|PMID:24651702|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25425582|PMID:25440022|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25985138|PMID:26071011|PMID:26084817|PMID:26206375|PMID:26269449|PMID:26332594|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:27014708|PMID:27077130|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:28166811|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29020875|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31510104|PMID:31614935|PMID:32091409|PMID:32099073|PMID:32179705|PMID:32283892|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33981013|PMID:35535697|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9384613|PMID:9497256|PMID:9502784 11748632 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 PMID:9506724|PMID:9536098|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 11748632 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10618407|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11732489|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12409662|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15277225|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16118333|PMID:16322339|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16715139|PMID:16732321|PMID:16767674|PMID:16849421|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17372903|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17605401|PMID:17610518|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18280283|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20456320|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20598273|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23461807|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25425582|PMID:25440022|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25985138|PMID:26071011|PMID:26084817|PMID:26206375|PMID:26269449|PMID:26332594|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:27014708|PMID:27077130|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:28166811|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29020875|PMID:29192238|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31510104|PMID:31614935|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33981013|PMID:34092334|PMID:35535697|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8807338 11748632 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 PMID:8896569|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9384613|PMID:9497256|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 11748632 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10618407|PMID:10646792|PMID:10664228|PMID:10679286|PMID:10790203|PMID:10826520|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12409662|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12686527|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15472167|PMID:15531714|PMID:15588381|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16118333|PMID:16227613|PMID:16322339|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16715139|PMID:16732321|PMID:16767674|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17372903|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18248648|PMID:18252215|PMID:18280283|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20598273|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21765987|PMID:21810974|PMID:21900877|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23295303|PMID:23461807|PMID:23526464|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24560924|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24845513|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25425582|PMID:25440022|PMID:25569433|PMID:25637381|PMID:25694125|PMID:25733075|PMID:25741868|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26254625|PMID:26269449|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:26883533|PMID:27014708|PMID:27077130|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27854218|PMID:27884173|PMID:28166811|PMID:28323957|PMID:28492532|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29192238|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29601828|PMID:29625052|PMID:29641532|PMID:29642553 11748632 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30583724|PMID:30660595|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31510104|PMID:31614935|PMID:31658439|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34358225|PMID:34925234|PMID:35535697|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8896569|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9497256|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 11748632 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10618407|PMID:10646792|PMID:10664228|PMID:10679286|PMID:10790203|PMID:10826520|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12409662|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12686527|PMID:12865274|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15472167|PMID:15531714|PMID:15588381|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16118333|PMID:16227613|PMID:16322339|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16767674|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17372903|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18248648|PMID:18252215|PMID:18280283|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19029228|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20598273|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21900877|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23295303|PMID:23461807|PMID:23526464|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24560924|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24845513|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25425582|PMID:25440022|PMID:25569433|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25733075|PMID:25741868|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26254625|PMID:26269449|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:26883533|PMID:27014708|PMID:27077130|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27854218|PMID:27884173|PMID:28018431|PMID:28099363|PMID:28323957|PMID:28492532|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29192238|PMID:29263839 11748632 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:29338689|PMID:29408964|PMID:29420094|PMID:29601828|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30583724|PMID:30624503|PMID:30660595|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31510104|PMID:31614935|PMID:31658439|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34358225|PMID:34925234|PMID:35535697|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8654369|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8894691|PMID:8896569|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9497256|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9620546|PMID:9681515|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 11748632 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10618407|PMID:10646792|PMID:10664228|PMID:10679286|PMID:10790203|PMID:10826520|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12409662|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12686527|PMID:12865274|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15472167|PMID:15531714|PMID:15588381|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16118333|PMID:16227613|PMID:16322339|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16767674|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17372903|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18248648|PMID:18252215|PMID:18280283|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19029228|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20598273|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21900877|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23295303|PMID:23461807|PMID:23526464|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24560924|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24845513|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25425582|PMID:25440022|PMID:25569433|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25733075|PMID:25741868|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26254625|PMID:26269449|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:26883533|PMID:27014708|PMID:27077130|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:28018431|PMID:28099363|PMID:28323957|PMID:28492532|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29192238|PMID:29263839|PMID:29338689 11748632 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:29408964|PMID:29420094|PMID:29601828|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30583724|PMID:30624503|PMID:30660595|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31510104|PMID:31614935|PMID:31658439|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34358225|PMID:34925234|PMID:35535697|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8654369|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8894691|PMID:8896569|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9497256|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9620546|PMID:9681515|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 11748632 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10618407|PMID:10646792|PMID:10664228|PMID:10679286|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12086152|PMID:12193298|PMID:12214285|PMID:12409662|PMID:12410354|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12686527|PMID:12865274|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15386323|PMID:15472167|PMID:15531714|PMID:15588381|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16118333|PMID:16227613|PMID:16322339|PMID:16343097|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16767674|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17032739|PMID:17047083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17316110|PMID:17372903|PMID:17466010|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18248648|PMID:18252215|PMID:18280283|PMID:18299477|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19029228|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19445625|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20142552|PMID:20368568|PMID:20369307|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20494215|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20598273|PMID:20719260|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21134561|PMID:21253810|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21454698|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21900877|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23526464|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24267509|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24560924|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24845513|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25349307|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25569433|PMID:25624014|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25903693|PMID:25985138|PMID:26033033|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26254625|PMID:26269449 11748632 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:26758973|PMID:26845104|PMID:26883533|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27717313|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:28018431|PMID:28099363|PMID:28125075|PMID:28323957|PMID:28492532|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29192238|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29590403|PMID:29601828|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30583724|PMID:30624503|PMID:30660595|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31510104|PMID:31614935|PMID:31658439|PMID:31666091|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32732076|PMID:32761341|PMID:32923848|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33450337|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34358225|PMID:34925234|PMID:35535697|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8654369|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8894691|PMID:8896569|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9497256|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681515|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 11748632 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10618407|PMID:10646792|PMID:10664228|PMID:10679286|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12086152|PMID:12193298|PMID:12214285|PMID:12409662|PMID:12410354|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12686527|PMID:12865274|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15386323|PMID:15472167|PMID:15531714|PMID:15588381|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16118333|PMID:16227613|PMID:16322339|PMID:16343097|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16767674|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17032739|PMID:17047083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17316110|PMID:17372903|PMID:17466010|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18248648|PMID:18252215|PMID:18280283|PMID:18299477|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19029228|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19445625|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20142552|PMID:20368568|PMID:20369307|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20494215|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20598273|PMID:20719260|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21134561|PMID:21253810|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21454698|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21900877|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23526464|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24267509|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24560924|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24845513|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25326637|PMID:25349307|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25569433|PMID:25624014|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25903693|PMID:25985138|PMID:26033033|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26254625 11748632 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 PMID:26269449|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:26758973|PMID:26845104|PMID:26883533|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27717313|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:28018431|PMID:28099363|PMID:28125075|PMID:28323957|PMID:28492532|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29192238|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29590403|PMID:29601828|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30583724|PMID:30624503|PMID:30660595|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31510104|PMID:31614935|PMID:31658439|PMID:31666091|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32732076|PMID:32761341|PMID:32923848|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33450337|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34358225|PMID:34925234|PMID:35535697|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8654369|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8894691|PMID:8896569|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9497256|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681515|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 11748632 RET ret proto-oncogene gene DOID:10907 microcephaly ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:30217742|PMID:32164334 11748632 RET ret proto-oncogene gene DOID:11372 megacolon ISO RGD:735296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:25741868 11748632 RET ret proto-oncogene gene DOID:11836 clubfoot ISO RGD:11234 D RGD:9068941 20220825 MouseDO OMIM:119800 11748632 RET ret proto-oncogene gene DOID:14566 disease of cellular proliferation ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:11230481|PMID:11524247|PMID:12000816|PMID:12116277|PMID:12604374|PMID:12686527|PMID:12746565|PMID:14715928|PMID:15184865|PMID:15855933|PMID:16099853|PMID:16736292|PMID:16868135|PMID:17047083|PMID:17097365|PMID:18062802|PMID:18063059|PMID:18096130|PMID:19062722|PMID:19469690|PMID:2008030|PMID:20080836|PMID:21655256|PMID:21765987|PMID:23723040|PMID:24716929|PMID:25157968|PMID:25515555|PMID:25741868|PMID:25810047|PMID:26046350|PMID:26467025|PMID:26732158|PMID:27539324|PMID:28099363|PMID:28469506|PMID:28492532|PMID:29133048|PMID:29197744|PMID:29656518|PMID:3078962|PMID:33167350|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7860065|PMID:7881414|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:8099202|PMID:8570194|PMID:9067749|PMID:9111992|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9699127|PMID:9820617|PMID:9950371 11748632 RET ret proto-oncogene gene DOID:1459 hypothyroidism ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:30660595|PMID:3078962|PMID:31510104|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 11748632 RET ret proto-oncogene gene DOID:14766 renal agenesis ISO RGD:735296 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: RENAL APLASIA PMID:11230481|PMID:15320968|PMID:16849421|PMID:18058472|PMID:18322301|PMID:18936155|PMID:19269918|PMID:19399650|PMID:19522830|PMID:19775624|PMID:19826964|PMID:19906784|PMID:21479187|PMID:21551259|PMID:21986619|PMID:23067224|PMID:24033266|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26489027|PMID:27379493|PMID:28492532|PMID:28946813|PMID:33167350 11748632 RET ret proto-oncogene gene DOID:1612 breast cancer ISO RGD:735296 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10646792|PMID:11955539|PMID:12566528|PMID:14566559|PMID:14633923|PMID:15741265|PMID:16441254|PMID:16928683|PMID:20956458|PMID:20981092|PMID:21655256|PMID:21995290|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22995991|PMID:23084198|PMID:23527089|PMID:24033266|PMID:24055113|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27153395|PMID:27884173|PMID:28492532|PMID:31614935|PMID:7647787|PMID:7881414|PMID:9727738|PMID:9760196 11748632 RET ret proto-oncogene gene DOID:1793 pancreatic cancer disease_progression ISO RGD:735296 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:16269310|REF_RGD_ID:2324926 11748632 RET ret proto-oncogene gene DOID:1824 status epilepticus ISO RGD:735296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12914250 11748632 RET ret proto-oncogene gene DOID:2316 brain ischemia ISO RGD:3556 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:10407114|REF_RGD_ID:6218981 11748632 RET ret proto-oncogene gene DOID:2394 ovarian cancer ISO RGD:735296 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:10076558|PMID:10679286|PMID:10826520|PMID:10876191|PMID:11114642|PMID:11238493|PMID:11732489|PMID:11788682|PMID:12019403|PMID:12193298|PMID:12410354|PMID:15184865|PMID:15386323|PMID:15741265|PMID:16343097|PMID:16865647|PMID:16868135|PMID:17032739|PMID:17047083|PMID:17316110|PMID:17466010|PMID:17664273|PMID:17895320|PMID:18062802|PMID:18299477|PMID:19445625|PMID:19958926|PMID:20039896|PMID:20142552|PMID:20369307|PMID:20494215|PMID:20516206|PMID:20719260|PMID:21134561|PMID:21309721|PMID:21454698|PMID:21711375|PMID:21810974|PMID:22174939|PMID:23341727|PMID:23468374|PMID:23514012|PMID:24033266|PMID:24336963|PMID:24361808|PMID:24617864|PMID:25349307|PMID:25440022|PMID:25501606|PMID:25624014|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25903693|PMID:26033033|PMID:26046350|PMID:26467025|PMID:26758973|PMID:26845104|PMID:27099842|PMID:28125075|PMID:28492532|PMID:29192238|PMID:29590403|PMID:29641532|PMID:29684080|PMID:30217742|PMID:31510104|PMID:32164334|PMID:32283892|PMID:32923848|PMID:33167350|PMID:33450337|PMID:8797874|PMID:9452077|PMID:9606292 11748632 RET ret proto-oncogene gene DOID:3070 high grade glioma ISO RGD:735296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma PMID:25741868 11748632 RET ret proto-oncogene gene DOID:3086 gingival overgrowth ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Gingival enlargement PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:30660595|PMID:3078962|PMID:31510104|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 11748632 RET ret proto-oncogene gene DOID:3125 multiple endocrine neoplasia ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Endocrine adenomatosis multiple | ClinVar Annotator: match by term: Multiple endocrine neoplasia PMID:10369718|PMID:10445857|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10980580|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11589684|PMID:11732489|PMID:11939755|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12566528|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:15277225|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15741265|PMID:15753368|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16118333|PMID:16424056|PMID:16441254|PMID:16649977|PMID:16705552|PMID:16715139|PMID:16732321|PMID:16849421|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17483988|PMID:17540634|PMID:17610518|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19399650|PMID:19469690|PMID:19522830|PMID:19775624|PMID:19826964|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20368568|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20801952|PMID:20847059|PMID:20943719|PMID:20956458|PMID:20981092|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22395866|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23461807|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24331334|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24651702|PMID:24728327|PMID:24755471|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25326637|PMID:25425582|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25810047|PMID:25985138|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26332594|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26580448|PMID:2660074|PMID:26883533|PMID:27077130|PMID:27153395|PMID:27379493|PMID:27539324|PMID:27600092|PMID:27798940|PMID:27807060|PMID:27884173|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29192238|PMID:29263839|PMID:29420094|PMID:29642553|PMID:30217742|PMID:30306255|PMID:30583724|PMID:30660595|PMID:30680046|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31510104|PMID:31614935|PMID:31658439|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33827484|PMID:34925234|PMID:7536460|PMID:7581377|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7845675|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7977365|PMID:8114938|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9090527|PMID:9242375|PMID:9506724|PMID:9620546|PMID:9681850|PMID:9727738|PMID:9760196|PMID:9839497 11748632 RET ret proto-oncogene gene DOID:3459 breast carcinoma ISO RGD:735296 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:25741868|PMID:28492532 11748632 RET ret proto-oncogene gene DOID:3963 thyroid gland carcinoma ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Thyroid gland carcinoma PMID:10522989|PMID:11389085|PMID:11987030|PMID:12000816|PMID:12466368|PMID:15184865|PMID:15472167|PMID:15588376|PMID:16314641|PMID:16525712|PMID:16707008|PMID:16778204|PMID:16817830|PMID:16849421|PMID:16865647|PMID:16868135|PMID:17065770|PMID:17102080|PMID:17102083|PMID:17178962|PMID:17270543|PMID:17316110|PMID:17573899|PMID:17605401|PMID:17639058|PMID:17895320|PMID:18063059|PMID:18209889|PMID:19015274|PMID:19825962|PMID:21765987|PMID:21810974|PMID:22900816|PMID:23416954|PMID:23617071|PMID:23861463|PMID:24561444|PMID:24784869|PMID:25027091|PMID:25157968|PMID:25440022|PMID:25515555|PMID:25741868|PMID:25810047|PMID:26467025|PMID:27539324|PMID:27698838|PMID:28469506|PMID:28492532|PMID:2904651|PMID:30624503|PMID:3078962|PMID:31510104|PMID:7608256|PMID:7824936|PMID:7849700|PMID:7907913|PMID:8099202|PMID:8103403|PMID:8570194|PMID:8757765|PMID:8765374|PMID:8909322|PMID:8918855|PMID:9230192 11748632 RET ret proto-oncogene gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:735296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 11748632 RET ret proto-oncogene gene DOID:3973 thyroid gland medullary carcinoma ISO RGD:735296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Medullary thyroid carcinoma | ClinVar Annotator: match by term: Medullary thyroid gland carcinoma PMID:10024437|PMID:10076558|PMID:10220148|PMID:10235148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10490816|PMID:10522989|PMID:10679286|PMID:10790203|PMID:11114642|PMID:11230481|PMID:11351254|PMID:11386462|PMID:11389085|PMID:11524247|PMID:11562352|PMID:11688458|PMID:11739416|PMID:11849247|PMID:11935126|PMID:11939755|PMID:11987030|PMID:12000816|PMID:12116277|PMID:12466368|PMID:12566528|PMID:12604374|PMID:12673960|PMID:12686527|PMID:12746565|PMID:12788868|PMID:12920219|PMID:14561794|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15345114|PMID:15472167|PMID:15523405|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15753368|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15991157|PMID:16053382|PMID:16099853|PMID:16118333|PMID:16275981|PMID:16314641|PMID:16322339|PMID:16343097|PMID:16419493|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16736292|PMID:16778204|PMID:16817830|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17021738|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17384210|PMID:17483988|PMID:17527003|PMID:17540634|PMID:17573899|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18252215|PMID:18541894|PMID:18984779|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19255327|PMID:19336503|PMID:19469690|PMID:19472011|PMID:19825962|PMID:19826964|PMID:19906784|PMID:20041006|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20497437|PMID:20516206|PMID:20554711|PMID:20847059|PMID:20943719|PMID:20979234|PMID:21054478|PMID:21253810|PMID:21254918|PMID:21311890|PMID:21422799|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21551259|PMID:21655256|PMID:21690267|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22359510|PMID:22584710|PMID:22676344|PMID:22703879|PMID:22900816|PMID:22992277|PMID:23056499|PMID:23295303|PMID:23416954|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24375508|PMID:24449023|PMID:24561444|PMID:24617864|PMID:24716929|PMID:24784869|PMID:24805091|PMID:24845513|PMID:25027091|PMID:25157968|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25887804|PMID:26046350|PMID:26084817|PMID:26269449|PMID:26332594|PMID:26356818|PMID:26467025|PMID:26556299|PMID:2660074|PMID:26678667|PMID:26732158|PMID:27014708|PMID:27153395|PMID:27539324|PMID:27673361|PMID:27698838|PMID:27807060|PMID:27994876|PMID:28099363|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:2904651|PMID:29097883|PMID:29133048|PMID:29197744|PMID:29396759|PMID:29656518|PMID:29684080|PMID:29790872|PMID:30172768|PMID:30446652|PMID:30624503|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30884088|PMID:30927507|PMID:31300450|PMID:31447099|PMID:31510104|PMID:32179705|PMID:32408902|PMID:33167350|PMID:33340421|PMID:33532864|PMID:33827484|PMID:34092334|PMID:7536460|PMID:7608256|PMID:7633441|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7977365|PMID:8099202|PMID:8103403|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9067749|PMID:9090527|PMID:9111992|PMID:9146685|PMID:9150704|PMID:9174404|PMID:9223675 11748632 RET ret proto-oncogene gene DOID:3973 thyroid gland medullary carcinoma ISO RGD:735296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Medullary thyroid carcinoma | ClinVar Annotator: match by term: Medullary thyroid gland carcinoma PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9498388|PMID:9506724|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9699127|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9879991|PMID:9950371 11748632 RET ret proto-oncogene gene DOID:4232 extraosseous Ewing sarcoma ISO RGD:735296 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ewing sarcoma of soft tissue PMID:24336963|PMID:24429398|PMID:24755471|PMID:25256751|PMID:25741868|PMID:26467025|PMID:26580448|PMID:28492532|PMID:29263839|PMID:29642553|PMID:30583724|PMID:30680046|PMID:31428572|PMID:31658439|PMID:32099073|PMID:32179705 11748632 RET ret proto-oncogene gene DOID:4851 pilocytic astrocytoma ISO RGD:735296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pilocytic astrocytoma PMID:25741868|PMID:28492532 11748632 RET ret proto-oncogene gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10646792|PMID:12566528|PMID:14566559|PMID:14633923|PMID:15741265|PMID:16441254|PMID:16928683|PMID:20981092|PMID:21655256|PMID:21995290|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22995991|PMID:23084198|PMID:23527089|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:27153395|PMID:27884173|PMID:28492532|PMID:7647787|PMID:7881414|PMID:9727738|PMID:9760196 11748632 RET ret proto-oncogene gene DOID:630 genetic disease ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:30660595|PMID:3078962|PMID:31510104|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 11748632 RET ret proto-oncogene gene DOID:6419 tetralogy of Fallot ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fallot tetralogy PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:30660595|PMID:3078962|PMID:31510104|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 11748632 RET ret proto-oncogene gene DOID:684 hepatocellular carcinoma ISO RGD:735296 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:11230481|PMID:12116277|PMID:14715928|PMID:15184865|PMID:15855933|PMID:16736292|PMID:17047083|PMID:17097365|PMID:18062802|PMID:25157968|PMID:25810047|PMID:26046350|PMID:28492532|PMID:29656518|PMID:7784092|PMID:7845675|PMID:7911697|PMID:9111992|PMID:9242375|PMID:9263528 11748632 RET ret proto-oncogene gene DOID:684 hepatocellular carcinoma severity ISO RGD:735296 D RGD:9068941 20210820 RGD protein:increased expression:liver (human) PMID:28350084|REF_RGD_ID:150340602 11748632 RET ret proto-oncogene gene DOID:8337 appendicitis ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Appendicitis PMID:11230481|PMID:15320968|PMID:16384843|PMID:16849421|PMID:18058472|PMID:18322301|PMID:18936155|PMID:19269918|PMID:19399650|PMID:19522830|PMID:19775624|PMID:19826964|PMID:19906784|PMID:21479187|PMID:21551259|PMID:21986619|PMID:23067224|PMID:24033266|PMID:24728327|PMID:25326637|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26489027|PMID:27379493|PMID:28492532|PMID:28946813|PMID:31937788|PMID:33167350 11748632 RET ret proto-oncogene gene DOID:8584 Burkitt lymphoma ISO RGD:735296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 11748632 RET ret proto-oncogene gene DOID:9000081 Lymphatic Metastasis ISO RGD:735296 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:18652760|REF_RGD_ID:2324925 11748632 RET ret proto-oncogene gene DOID:9000998 Brain Injuries ISO RGD:3556 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:18501516|REF_RGD_ID:2324932 11748632 RET ret proto-oncogene gene DOID:9001581 Constipation ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Constipation PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:30660595|PMID:3078962|PMID:31510104|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 11748632 RET ret proto-oncogene gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:3556 D RGD:9068941 20200609 RGD mRNA:increased expression:hypoglossal XII nerve PMID:10407179|REF_RGD_ID:6218979 11748632 RET ret proto-oncogene gene DOID:9003133 Hypertelorism ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:30660595|PMID:3078962|PMID:31510104|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 11748632 RET ret proto-oncogene gene DOID:9003763 Renal Hypodysplasia/Aplasia 1 ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 1 PMID:10528857|PMID:10646792|PMID:10790203|PMID:10980580|PMID:11230481|PMID:11436122|PMID:11589684|PMID:11732489|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12566528|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15741265|PMID:15753368|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16118333|PMID:16424056|PMID:16441254|PMID:16649977|PMID:16705552|PMID:16732321|PMID:16849421|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108762|PMID:17483988|PMID:17610518|PMID:18058472|PMID:18252215|PMID:18322301|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19269918|PMID:19399650|PMID:19522830|PMID:19775624|PMID:19826964|PMID:19906784|PMID:20039896|PMID:20080836|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20801952|PMID:20956458|PMID:20981092|PMID:21311890|PMID:21349203|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22395866|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22995991|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23461807|PMID:23527089|PMID:23723040|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24651702|PMID:24728327|PMID:24755471|PMID:24897126|PMID:25256751|PMID:25326637|PMID:25425582|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25985138|PMID:26076779|PMID:26206375|PMID:26332594|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26580448|PMID:26883533|PMID:27077130|PMID:27153395|PMID:27379493|PMID:27600092|PMID:27798940|PMID:27884173|PMID:28492532|PMID:28946813|PMID:29192238|PMID:29263839|PMID:29420094|PMID:29642553|PMID:30217742|PMID:30306255|PMID:30583724|PMID:30680046|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31510104|PMID:31614935|PMID:31658439|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33827484|PMID:34925234|PMID:7581377|PMID:7647787|PMID:7704557|PMID:7881414|PMID:8114938|PMID:9090527|PMID:9506724|PMID:9727738|PMID:9760196 11748632 RET ret proto-oncogene gene DOID:9004001 Facial Nerve Injuries ISO RGD:3556 D RGD:9068941 20200609 RGD mRNA:increased expression:facial VII nucleus PMID:9582449|REF_RGD_ID:6218984 11748632 RET ret proto-oncogene gene DOID:9004286 Hirschsprung Disease 1 ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hirschsprung disease 1 PMID:10369718|PMID:10445857|PMID:10679286|PMID:11230481|PMID:11351254|PMID:15277225|PMID:15320968|PMID:16715139|PMID:16849421|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18322301|PMID:18541894|PMID:18936155|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19399650|PMID:19522830|PMID:19775624|PMID:19826964|PMID:19906784|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21551259|PMID:21765987|PMID:21810974|PMID:21986619|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23067224|PMID:23660872|PMID:24033266|PMID:24336963|PMID:24728327|PMID:25157968|PMID:25637381|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26332594|PMID:26467025|PMID:26489027|PMID:2660074|PMID:27379493|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:28946813|PMID:30660595|PMID:3078962|PMID:31510104|PMID:33167350|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 11748632 RET ret proto-oncogene gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:10369718|PMID:10445857|PMID:10679286|PMID:11230481|PMID:11351254|PMID:11939755|PMID:12000816|PMID:15277225|PMID:15320968|PMID:16715139|PMID:16849421|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18322301|PMID:18541894|PMID:18936155|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19399650|PMID:19469690|PMID:19522830|PMID:19775624|PMID:19826964|PMID:19906784|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:20943719|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21551259|PMID:21765987|PMID:21810974|PMID:21986619|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23067224|PMID:23660872|PMID:24033266|PMID:24331334|PMID:24336963|PMID:24728327|PMID:25157968|PMID:25637381|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26332594|PMID:26467025|PMID:26489027|PMID:2660074|PMID:27379493|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:28946813|PMID:30660595|PMID:3078962|PMID:31510104|PMID:33167350|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 11748632 RET ret proto-oncogene gene DOID:9004492 Familial Amyloidosis ISO RGD:735296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12864791 11748632 RET ret proto-oncogene gene DOID:9004547 Thyroid Neoplasms ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:11939755|PMID:12000816|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19469690|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:20943719|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24331334|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:30660595|PMID:3078962|PMID:31510104|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 11748632 RET ret proto-oncogene gene DOID:9005077 Joint Instability ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:30660595|PMID:3078962|PMID:31510104|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 11748632 RET ret proto-oncogene gene DOID:9006195 Medullary Carcinomas ISO RGD:735296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7915165 11748632 RET ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10220148|PMID:10235148|PMID:10445857|PMID:10462620|PMID:10484767|PMID:10490816|PMID:10522989|PMID:10528857|PMID:10612852|PMID:10618407|PMID:10646792|PMID:10777380|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11073534|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11295841|PMID:11389085|PMID:11395220|PMID:11436122|PMID:11454140|PMID:11471675|PMID:11502806|PMID:11562352|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11849247|PMID:11932300|PMID:11939755|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12086152|PMID:12116277|PMID:12150334|PMID:12214285|PMID:12409662|PMID:12410354|PMID:12466368|PMID:12490841|PMID:12566528|PMID:12640453|PMID:12686527|PMID:12694233|PMID:12746565|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14517954|PMID:14557476|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15386323|PMID:15472167|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15834508|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15933516|PMID:16099853|PMID:16118333|PMID:16227613|PMID:16314641|PMID:16343097|PMID:16391329|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16507829|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16736292|PMID:16767674|PMID:16778204|PMID:16813623|PMID:16817830|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17009072|PMID:17021738|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17344846|PMID:17372903|PMID:17384210|PMID:17466010|PMID:17483988|PMID:17573899|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18322301|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19015274|PMID:19062722|PMID:19177457|PMID:19201392|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19443294|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20013610|PMID:20039896|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20087666|PMID:20103606|PMID:20119574|PMID:20152359|PMID:20369307|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20801952|PMID:20943719|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21134561|PMID:21254918|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21520333|PMID:21542403|PMID:21551259|PMID:21606412|PMID:21626080|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21900877|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22274720|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23407919|PMID:23416954|PMID:23461807|PMID:23468374|PMID:23527089|PMID:23617071|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24064755|PMID:24134185|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24449023|PMID:24449676|PMID:24561444|PMID:24569963|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698 11748632 RET ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25157968|PMID:25256751|PMID:25319874|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26845104|PMID:26876062|PMID:26920351|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27798940|PMID:27809725|PMID:27847096|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28125075|PMID:28166811|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29133048|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29549836|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29850289|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31431315|PMID:31510104|PMID:31614935|PMID:32283892|PMID:33167350|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8797874|PMID:8807338|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9068588|PMID:9090527|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9760196|PMID:9824583|PMID:9839497|PMID:9879991|PMID:9950371 11748632 RET ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10220148|PMID:10235148|PMID:10445857|PMID:10462620|PMID:10465268|PMID:10484767|PMID:10490816|PMID:10522989|PMID:10528857|PMID:10612852|PMID:10618407|PMID:10646792|PMID:10777380|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11073534|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11295841|PMID:11313948|PMID:11389085|PMID:11390647|PMID:11395220|PMID:11436122|PMID:11454140|PMID:11471675|PMID:11502806|PMID:11562352|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11849247|PMID:11932300|PMID:11939755|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12086152|PMID:12116277|PMID:12150334|PMID:12214285|PMID:12409662|PMID:12410354|PMID:12466368|PMID:12490841|PMID:12566528|PMID:12640453|PMID:12686527|PMID:12694233|PMID:12746565|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14517954|PMID:14557476|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15386323|PMID:15472167|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15834508|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15933516|PMID:16099853|PMID:16118333|PMID:16227613|PMID:16314641|PMID:16343097|PMID:16391329|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16507829|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16736292|PMID:16767674|PMID:16778204|PMID:16813623|PMID:16817830|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17009072|PMID:17021738|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17344846|PMID:17372903|PMID:17384210|PMID:17466010|PMID:17483988|PMID:17573899|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18322301|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19015274|PMID:19062722|PMID:19177457|PMID:19201392|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20013610|PMID:20039896|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20087666|PMID:20103606|PMID:20119574|PMID:20152359|PMID:20369307|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20801952|PMID:20943719|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21134561|PMID:21254918|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21542403|PMID:21551259|PMID:21606412|PMID:21626080|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21711375|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21900877|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22270996|PMID:22274720|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23407919|PMID:23416954|PMID:23461807|PMID:23468374|PMID:23527089|PMID:23617071|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24064755|PMID:24134185|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24449023|PMID:24449676|PMID:24561444|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698 11748632 RET ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25157968|PMID:25256751|PMID:25319874|PMID:25326637|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26845104|PMID:26876062|PMID:26920351|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27798940|PMID:27809725|PMID:27847096|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28125075|PMID:28166811|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29133048|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29549836|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:29850289|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31614935|PMID:32179705|PMID:32283892|PMID:32430905|PMID:33167350|PMID:33433679|PMID:33827484|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8797874|PMID:8807338|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9047383|PMID:9067749|PMID:9068588|PMID:9090527|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9760196|PMID:9824583|PMID:9839497|PMID:9879991|PMID:9950371 11748632 RET ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23407919|PMID:23416954|PMID:23461807|PMID:23468374|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24064755|PMID:24134185|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24449023|PMID:24449676|PMID:24561444|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698|PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25157968|PMID:25256751|PMID:25319874|PMID:25326637|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26845104|PMID:26876062|PMID:26920351|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27798940|PMID:27807060|PMID:27809725|PMID:27847096|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28125075|PMID:28166811|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29097883|PMID:29133048|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29338689|PMID:29396759|PMID:29408964|PMID:29420094|PMID:29549836|PMID:29590403|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:29850289|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30446652|PMID:30624503|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30884088|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31614935|PMID:32091409|PMID:32099073|PMID:32179705|PMID:32283892|PMID:32375120|PMID:32430905|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33433679|PMID:33827484|PMID:33981013|PMID:34771502|PMID:35535697|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8626834|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9047383|PMID:9067749|PMID:9068588|PMID:9090527|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9879991|PMID:9950371 11748632 RET ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10220148|PMID:10235148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10465268|PMID:10484767|PMID:10490816|PMID:10522989|PMID:10528857|PMID:10612852|PMID:10618407|PMID:10646792|PMID:10679286|PMID:10777380|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10946353|PMID:10980580|PMID:10982477|PMID:11061555|PMID:11073534|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11295841|PMID:11313948|PMID:11331212|PMID:11351254|PMID:11386462|PMID:11389085|PMID:11390647|PMID:11395220|PMID:11436122|PMID:11454140|PMID:11471675|PMID:11502806|PMID:11524247|PMID:11562352|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11692159|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11932300|PMID:11935126|PMID:11939755|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12050290|PMID:12072055|PMID:12086152|PMID:12116277|PMID:12150334|PMID:12214285|PMID:12409662|PMID:12410354|PMID:12466368|PMID:12490841|PMID:12566528|PMID:12604374|PMID:12640453|PMID:12686527|PMID:12694233|PMID:12734540|PMID:12746565|PMID:12788868|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14517954|PMID:14557476|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15240641|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15345114|PMID:15386323|PMID:15472167|PMID:15531548|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15834508|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16099853|PMID:16118333|PMID:16227613|PMID:16275981|PMID:16314641|PMID:16322339|PMID:16325365|PMID:16343097|PMID:16343103|PMID:16391329|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16507829|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16736292|PMID:16767674|PMID:16778204|PMID:16813623|PMID:16817830|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17009072|PMID:17021738|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17344846|PMID:17372903|PMID:17384210|PMID:17466010|PMID:17483988|PMID:17527003|PMID:17540634|PMID:17573899|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18322301|PMID:18541894|PMID:18551016|PMID:18772120|PMID:18805915|PMID:18936155|PMID:18976013|PMID:18984779|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19177457|PMID:19201392|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19443294|PMID:19469690|PMID:19472011|PMID:19475497|PMID:19522830|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20013610|PMID:20039896|PMID:20041006|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20087666|PMID:20103606|PMID:20119574|PMID:20152359|PMID:20368568|PMID:20369307|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20664475|PMID:20739875|PMID:20801952|PMID:20833330|PMID:20847059|PMID:20943719|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21134561|PMID:21253810|PMID:21254918|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422799|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21475823|PMID:21479187|PMID:21490379|PMID:21542403|PMID:21551259|PMID:21606412|PMID:21626080|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21706185|PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21900877|PMID:21934104|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22131258|PMID:22136840|PMID:22174939 11748632 RET ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:22199277|PMID:22233172|PMID:22270996|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584703|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22648435|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22734615|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23400839|PMID:23407919|PMID:23416954|PMID:23461807|PMID:23468374|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24449023|PMID:24449676|PMID:24560924|PMID:24561444|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698|PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25143909|PMID:25157968|PMID:25256751|PMID:25319874|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25767701|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26845104|PMID:26876062|PMID:26920351|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27400880|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27704398|PMID:27798940|PMID:27807060|PMID:27809725|PMID:27838608|PMID:27847096|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28125075|PMID:28166811|PMID:28202063|PMID:28276298|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28799054|PMID:28873162|PMID:28943896|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29077903|PMID:29097883|PMID:29133048|PMID:29192238|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29312610|PMID:29338689|PMID:29378779|PMID:29396759|PMID:29408964|PMID:29420094|PMID:29515777|PMID:29549836|PMID:29590403|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:29850289|PMID:30031151|PMID:30122538|PMID:30172768|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30446652|PMID:30550378|PMID:30618340|PMID:30624503|PMID:30660595|PMID:30666164|PMID:30734711|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30884088|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31300450|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31614935|PMID:31666091|PMID:31892348|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32430905|PMID:32732076|PMID:32761341|PMID:32823925|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33433679|PMID:33532864|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34646395|PMID:34771502|PMID:35535697|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8626834|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8855832|PMID:8896569|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9047383 11748632 RET ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:9067749|PMID:9068588|PMID:9075701|PMID:9090527|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9868860|PMID:9879991|PMID:9950371 11748632 RET ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21900877|PMID:21934104|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22131258|PMID:22136840|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584703|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22648435|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22734615|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23400839|PMID:23407919|PMID:23416954|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23526464|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24449676|PMID:24560924|PMID:24561444|PMID:24569963|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698|PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25143909|PMID:25157968|PMID:25244518|PMID:25256751|PMID:25319874|PMID:25349307|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25569433|PMID:25624014|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25767701|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25903693|PMID:25985138|PMID:26033033|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26254625|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26758973|PMID:26845104|PMID:26876062|PMID:26883533|PMID:26920351|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27349013|PMID:27379493|PMID:27400880|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27704398|PMID:27798940|PMID:27807060|PMID:27809725|PMID:27838608|PMID:27847096|PMID:27854218|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28125075|PMID:28137737|PMID:28202063|PMID:28276298|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28799054|PMID:28873162|PMID:28943896|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29077903|PMID:29097883|PMID:29133048|PMID:29192238|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29312610|PMID:29338689|PMID:29396759|PMID:29408964|PMID:29420094|PMID:29515777|PMID:29549836|PMID:29590403|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:29850289|PMID:30031151|PMID:30122538|PMID:30172768|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30446652|PMID:30550378|PMID:30583724|PMID:30618340|PMID:30624503|PMID:30660595|PMID:30666164|PMID:30680046|PMID:30734711|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30884088|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31300450|PMID:31428572|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31614935|PMID:31658439|PMID:31666091|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32430905|PMID:32732076|PMID:32761341|PMID:32823925|PMID:32923848|PMID:32989896|PMID:33084974|PMID:33167350|PMID:33340421|PMID:33433679|PMID:33450337|PMID:33532864|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34646395|PMID:34771502|PMID:34925234|PMID:35535697|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7633441|PMID:7647787 11748632 RET ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:7704557|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8626834|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8852653|PMID:8855832|PMID:8896569|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9068588|PMID:9075701|PMID:9090527|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9294615|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9745455|PMID:9760196|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9868860|PMID:9879991|PMID:9950371 11748632 RET ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10220148|PMID:10235148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10465268|PMID:10484767|PMID:10490816|PMID:10522989|PMID:10528857|PMID:10549772|PMID:10612852|PMID:10618407|PMID:10646792|PMID:10679286|PMID:10777380|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10946353|PMID:10980580|PMID:10982477|PMID:11061555|PMID:11073534|PMID:11114642|PMID:11149622|PMID:11230481|PMID:11238493|PMID:11295841|PMID:11313948|PMID:11331212|PMID:11351254|PMID:11386462|PMID:11389085|PMID:11390647|PMID:11395220|PMID:11436122|PMID:11454140|PMID:11471675|PMID:11502806|PMID:11524247|PMID:11562352|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11692159|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11932300|PMID:11935126|PMID:11939755|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12050290|PMID:12072055|PMID:12086152|PMID:12116277|PMID:12150334|PMID:12193298|PMID:12214285|PMID:12409662|PMID:12410354|PMID:12466368|PMID:12490841|PMID:12566528|PMID:12604374|PMID:12640453|PMID:12686527|PMID:12694233|PMID:12734540|PMID:12746565|PMID:12788868|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14517954|PMID:14557476|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15240641|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15345114|PMID:15386323|PMID:15472167|PMID:15523405|PMID:15531548|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15834508|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:15991157|PMID:16053382|PMID:16099853|PMID:16118333|PMID:16227613|PMID:16275981|PMID:16314641|PMID:16322339|PMID:16325365|PMID:16343097|PMID:16343103|PMID:16391329|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16507829|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16736292|PMID:16767674|PMID:16778204|PMID:16813623|PMID:16817830|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17009072|PMID:17021738|PMID:17032739|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17344846|PMID:17372903|PMID:17384210|PMID:17466010|PMID:17483988|PMID:17527003|PMID:17540634|PMID:17573899|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18248648|PMID:18252215|PMID:18299477|PMID:18322301|PMID:18541894|PMID:18551016|PMID:18772120|PMID:18805915|PMID:18936155|PMID:18976013|PMID:18984779|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19177457|PMID:19201392|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19443294|PMID:19445625|PMID:19469690|PMID:19472011|PMID:19475497|PMID:19522830|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20013610|PMID:20039896|PMID:20041006|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20087666|PMID:20103606|PMID:20119574|PMID:20142552|PMID:20152359|PMID:20368568|PMID:20369307|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20494215|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20664475|PMID:20719260|PMID:20739875|PMID:20801952|PMID:20833330|PMID:20847059|PMID:20943719|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21134561|PMID:21186952|PMID:21253810|PMID:21254918|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422799|PMID:21422803|PMID:21454698|PMID:21455200|PMID:21470995|PMID:21475823|PMID:21479187|PMID:21490379|PMID:21542403|PMID:21551259|PMID:21606412|PMID:21626080|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267 11748632 RET ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21706185|PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21900877|PMID:21934104|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22131258|PMID:22136840|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584703|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22648435|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22734615|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23400839|PMID:23407919|PMID:23416954|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23526464|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24449676|PMID:24560924|PMID:24561444|PMID:24569963|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698|PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25143909|PMID:25157968|PMID:25244518|PMID:25256751|PMID:25319874|PMID:25326637|PMID:25349307|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25569433|PMID:25624014|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25767701|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25903693|PMID:25985138|PMID:26033033|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26254625|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26758973|PMID:26845104|PMID:26876062|PMID:26883533|PMID:26920351|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27349013|PMID:27379493|PMID:27400880|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27704398|PMID:27798940|PMID:27807060|PMID:27809725|PMID:27838608|PMID:27847096|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28125075|PMID:28137737|PMID:28202063|PMID:28276298|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28799054|PMID:28873162|PMID:28943896|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29077903|PMID:29097883|PMID:29133048|PMID:29192238|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29312610|PMID:29338689|PMID:29396759|PMID:29408964|PMID:29420094|PMID:29515777|PMID:29549836|PMID:29590403|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:29850289|PMID:30031151|PMID:30122538|PMID:30172768|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30446652|PMID:30550378|PMID:30583724|PMID:30618340|PMID:30624503|PMID:30660595|PMID:30666164|PMID:30680046|PMID:30734711|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30884088|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31300450|PMID:31428572|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31614935|PMID:31658439|PMID:31666091|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32430905|PMID:32732076|PMID:32761341|PMID:32823925|PMID:32923848|PMID:32989896|PMID:33084974|PMID:33167350|PMID:33340421|PMID:33433679|PMID:33450337|PMID:33532864|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34646395|PMID:34771502|PMID:34925234|PMID:35535697|PMID:36251279|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256 11748632 RET ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:7633441|PMID:7647787|PMID:7704557|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8626834|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8852653|PMID:8855832|PMID:8896569|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9068588|PMID:9075701|PMID:9090527|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9294615|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9745455|PMID:9760196|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9868860|PMID:9879991|PMID:9950371 11748632 RET ret proto-oncogene gene DOID:9007661 Dwarfism ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Short stature PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:30660595|PMID:3078962|PMID:31510104|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 11748632 RET ret proto-oncogene gene DOID:9008443 Colorectal Neoplasms ISO RGD:735296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 11748632 RET ret proto-oncogene gene DOID:9008681 Deafness ISO RGD:3556 D RGD:9068941 20200609 RGD mRNA:increased expression:vestibulocochlear VIII nerve cochlear component PMID:16738479|REF_RGD_ID:2324943 11748632 RET ret proto-oncogene gene DOID:9008952 Breast Cancer, Familial ISO RGD:735296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:12000816|PMID:12566528|PMID:15531714|PMID:15753368|PMID:15870131|PMID:16118333|PMID:16705552|PMID:17021738|PMID:17483988|PMID:17610518|PMID:19826964|PMID:19906784|PMID:20080836|PMID:21311890|PMID:21810974|PMID:22584710|PMID:22703879|PMID:23723040|PMID:24033266|PMID:24375508|PMID:25425582|PMID:25637381|PMID:25741868|PMID:27153395|PMID:28492532|PMID:31510104|PMID:9090527|PMID:9506724 11748632 RET ret proto-oncogene gene DOID:9256 colorectal cancer ISO RGD:735296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 11748656 SH3BGR SH3 domain binding glutamate rich protein gene DOID:12849 autistic disorder ISO RGD:1346069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11748656 SH3BGR SH3 domain binding glutamate rich protein gene DOID:630 genetic disease ISO RGD:1346069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748667 LPCAT4 lysophosphatidylcholine acyltransferase 4 gene DOID:0110317 hypertrophic cardiomyopathy 11 ISO RGD:1604192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 PMID:18458017|PMID:27125413|PMID:28492532 11748667 LPCAT4 lysophosphatidylcholine acyltransferase 4 gene DOID:2717 Bloom syndrome ISO RGD:1604192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11748667 LPCAT4 lysophosphatidylcholine acyltransferase 4 gene DOID:630 genetic disease ISO RGD:1604192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748667 LPCAT4 lysophosphatidylcholine acyltransferase 4 gene DOID:9256 colorectal cancer ISO RGD:1604192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11748685 DLD dihydrolipoamide dehydrogenase gene DOID:0112230 lissencephaly 5 ISO RGD:1348290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly 5 PMID:25741868|PMID:28492532 11748685 DLD dihydrolipoamide dehydrogenase gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:1348290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency PMID:25741868|PMID:28492532 11748685 DLD dihydrolipoamide dehydrogenase gene DOID:3652 Leigh disease ISO RGD:1348290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:25741868|PMID:28492532 11748685 DLD dihydrolipoamide dehydrogenase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11748685 DLD dihydrolipoamide dehydrogenase gene DOID:630 genetic disease ISO RGD:1348290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11186938|PMID:11687750|PMID:14765544|PMID:15712224|PMID:15946682|PMID:16442803|PMID:16601893|PMID:16770810|PMID:17125710|PMID:18362926|PMID:20672374|PMID:21558426|PMID:21930696|PMID:23290025|PMID:23478190|PMID:23995961|PMID:24012808|PMID:24516753|PMID:25741868|PMID:27144126|PMID:27290639|PMID:27544700|PMID:28492532|PMID:9540846|PMID:9934985 11748685 DLD dihydrolipoamide dehydrogenase gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1348290 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:28492532 11748685 DLD dihydrolipoamide dehydrogenase gene DOID:9002135 Congenital Infantile Lactic Acidosis due to LAD Deficiency ISO RGD:1348290 D RGD:7240710 20180130 OMIM 11748685 DLD dihydrolipoamide dehydrogenase gene DOID:9002135 Congenital Infantile Lactic Acidosis due to LAD Deficiency ISO RGD:1348290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DLD DEFICIENCY | ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to | ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, TYPE III | ClinVar Annotator: match by term: Maple syrup urine disease, type 3 PMID:10448086|PMID:11186938|PMID:11687750|PMID:12925875|PMID:1347528|PMID:14765544|PMID:15712224|PMID:15946682|PMID:16199547|PMID:1640293|PMID:16442803|PMID:16601893|PMID:16770810|PMID:17125710|PMID:17404228|PMID:17576681|PMID:18362926|PMID:20652410|PMID:20672374|PMID:21558426|PMID:21930696|PMID:21996136|PMID:23290025|PMID:23478190|PMID:23995961|PMID:24012808|PMID:24516753|PMID:25251739|PMID:25356417|PMID:25741868|PMID:25741884|PMID:27144126|PMID:27290639|PMID:27544700|PMID:27896107|PMID:28492532|PMID:31334547|PMID:31683770|PMID:33092611|PMID:33306821|PMID:3769994|PMID:7797549|PMID:8506365|PMID:8652022|PMID:8968745|PMID:9298831|PMID:9536098|PMID:9540846|PMID:9934985 11748685 DLD dihydrolipoamide dehydrogenase gene DOID:9269 maple syrup urine disease ISO RGD:1348290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:25741868|PMID:28492532 11748709 C1H1orf115 chromosome 1 C1orf115 homolog gene DOID:0050439 Usher syndrome ISO RGD:1605938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 11748709 C1H1orf115 chromosome 1 C1orf115 homolog gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1605938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 11748709 C1H1orf115 chromosome 1 C1orf115 homolog gene DOID:0080600 COVID-19 ISO RGD:1605938 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11748709 C1H1orf115 chromosome 1 C1orf115 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1605938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11748709 C1H1orf115 chromosome 1 C1orf115 homolog gene DOID:630 genetic disease ISO RGD:1605938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748709 C1H1orf115 chromosome 1 C1orf115 homolog gene DOID:9006949 Martsolf Syndrome ISO RGD:1605938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 11748709 C1H1orf115 chromosome 1 C1orf115 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11748716 RHOA ras homolog family member A gene DOID:0050665 fetal alcohol syndrome ISO RGD:619921 D RGD:9068941 20200609 RGD protein:increased activation:neuron, cerebellum PMID:17109064|REF_RGD_ID:2298867 11748716 RHOA ras homolog family member A gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413734|PMID:24413737 11748716 RHOA ras homolog family member A gene DOID:0060001 withdrawal disorder ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 11748716 RHOA ras homolog family member A gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:26619011 11748716 RHOA ras homolog family member A gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 11748716 RHOA ras homolog family member A gene DOID:0060852 Pierson syndrome ISO RGD:1347797 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 11748716 RHOA ras homolog family member A gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24584070 11748716 RHOA ras homolog family member A gene DOID:10763 hypertension ISO RGD:619921 D RGD:9068941 20200609 RGD protein:altered localization:mesenteric artery PMID:17620967|REF_RGD_ID:1642801 11748716 RHOA ras homolog family member A gene DOID:1091 tooth disease ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31570889 11748716 RHOA ras homolog family member A gene DOID:10976 membranous glomerulonephritis ISO RGD:619921 D RGD:9068941 20200609 RGD protein:increased activity:epithelial cell PMID:17376765|REF_RGD_ID:1642963 11748716 RHOA ras homolog family member A gene DOID:11054 urinary bladder cancer ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19896475 11748716 RHOA ras homolog family member A gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1347797 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:12855641|REF_RGD_ID:2298872 11748716 RHOA ras homolog family member A gene DOID:1107 esophageal carcinoma ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:26619011 11748716 RHOA ras homolog family member A gene DOID:1612 breast cancer disease_progression ISO RGD:1347797 D RGD:9068941 20200609 RGD PMID:18575772|REF_RGD_ID:2298866 11748716 RHOA ras homolog family member A gene DOID:1612 breast cancer severity ISO RGD:1347797 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:12237774|REF_RGD_ID:2298874 11748716 RHOA ras homolog family member A gene DOID:2121 ectodermal dysplasia ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31570889 11748716 RHOA ras homolog family member A gene DOID:2377 multiple sclerosis ISO RGD:1347797 D RGD:9068941 20200609 RGD protein:increased expression:microglial cell, brain PMID:17983427|REF_RGD_ID:2298887 11748716 RHOA ras homolog family member A gene DOID:2841 asthma ISO RGD:619921 D RGD:9068941 20200609 RGD PMID:18391481|REF_RGD_ID:2298885 11748716 RHOA ras homolog family member A gene DOID:305 carcinoma ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24816255 11748716 RHOA ras homolog family member A gene DOID:3459 breast carcinoma ISO RGD:1347797 D RGD:9068941 20200609 RGD PMID:17007568|REF_RGD_ID:2298868 11748716 RHOA ras homolog family member A gene DOID:3717 gastric adenocarcinoma ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:26619011 11748716 RHOA ras homolog family member A gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25783350 11748716 RHOA ras homolog family member A gene DOID:3910 lung adenocarcinoma ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:26619011 11748716 RHOA ras homolog family member A gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:1347797 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ovary PMID:12808121|REF_RGD_ID:2298873 11748716 RHOA ras homolog family member A gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:26619011 11748716 RHOA ras homolog family member A gene DOID:576 proteinuria ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19955829 11748716 RHOA ras homolog family member A gene DOID:630 genetic disease ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748716 RHOA ras homolog family member A gene DOID:6432 pulmonary hypertension ISO RGD:619921 D RGD:9068941 20200609 RGD protein:altered localization:membrane, artery, lung PMID:18091588|REF_RGD_ID:2298877 11748716 RHOA ras homolog family member A gene DOID:6432 pulmonary hypertension ISO RGD:619921 D RGD:9068941 20200609 RGD protein:altered localization:pulmonary artery PMID:16322374|REF_RGD_ID:1642819 11748716 RHOA ras homolog family member A gene DOID:9000039 Spinal Cord Injuries ISO RGD:619921 D RGD:9068941 20230401 RGD mRNA,protein:increased expression:spinal cord: PMID:27893610|REF_RGD_ID:243048440 11748716 RHOA ras homolog family member A gene DOID:9000081 Lymphatic Metastasis ISO RGD:1347797 D RGD:9068941 20200609 RGD associated with Bladder Neoplasms;protein:increased expression:lymph node PMID:12855641|REF_RGD_ID:2298872 11748716 RHOA ras homolog family member A gene DOID:9000081 Lymphatic Metastasis ISO RGD:1347797 D RGD:9068941 20200609 RGD associated with colorectal cancer PMID:17597401|REF_RGD_ID:13432052 11748716 RHOA ras homolog family member A gene DOID:9000217 Stomach Neoplasms ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15448013|PMID:24816253|PMID:24816255 11748716 RHOA ras homolog family member A gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1347797 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:15269155|REF_RGD_ID:2298869 11748716 RHOA ras homolog family member A gene DOID:9000457 Germ Cell and Embryonal Neoplasms disease_progression ISO RGD:1347797 D RGD:9068941 20200609 RGD mRNA:increased expression:testis PMID:11872041|REF_RGD_ID:2298875 11748716 RHOA ras homolog family member A gene DOID:9000784 Fibrosis ISO RGD:619921 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased activation:heart PMID:17184496|REF_RGD_ID:1642810 11748716 RHOA ras homolog family member A gene DOID:9000965 Neoplasm Metastasis ISO RGD:1347797 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms PMID:12808121|REF_RGD_ID:2298873 11748716 RHOA ras homolog family member A gene DOID:9000998 Brain Injuries ISO RGD:619921 D RGD:9068941 20200609 RGD protein:increased expression:microglial cell, brain PMID:17929039|REF_RGD_ID:2298888 11748716 RHOA ras homolog family member A gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11748716 RHOA ras homolog family member A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:619921 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:16492715|PMID:17596891|REF_RGD_ID:1642803|REF_RGD_ID:2298879 11748716 RHOA ras homolog family member A gene DOID:9001734 Neurocutaneous Syndromes ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31570889 11748716 RHOA ras homolog family member A gene DOID:9002704 Leukoencephalopathies ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31570889 11748716 RHOA ras homolog family member A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis severity ISO RGD:619921 D RGD:9068941 20200609 RGD protein:increased expression:microglial cell, brain PMID:17983427|REF_RGD_ID:2298887 11748716 RHOA ras homolog family member A gene DOID:9003047 ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES ISO RGD:1347797 D RGD:7240710 20210818 OMIM 11748716 RHOA ras homolog family member A gene DOID:9003047 ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES, SOMATIC MOSAIC | ClinVar Annotator: match by term: Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies PMID:25741868|PMID:31570889 11748716 RHOA ras homolog family member A gene DOID:9003936 Cardiomegaly ISO RGD:619921 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased activation:heart PMID:17184496|REF_RGD_ID:1642810 11748716 RHOA ras homolog family member A gene DOID:9003936 Cardiomegaly ISO RGD:731060 D RGD:9068941 20200609 RGD protein:increased expression:cardiac muscle cell PMID:17316608|REF_RGD_ID:1642807 11748716 RHOA ras homolog family member A gene DOID:9004253 Immunoblastic Lymphadenopathy ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413737|PMID:24584070 11748716 RHOA ras homolog family member A gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19896475 11748716 RHOA ras homolog family member A gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:619921 D RGD:9068941 20200609 RGD PMID:17316608|REF_RGD_ID:1642807 11748716 RHOA ras homolog family member A gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:1347797 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:renal/urinary system PMID:12581011|REF_RGD_ID:1547861 11748716 RHOA ras homolog family member A gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 11748716 RHOA ras homolog family member A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619921 D RGD:9068941 20200609 RGD PMID:17589825|REF_RGD_ID:1642825 11748716 RHOA ras homolog family member A gene DOID:9005660 Hypopigmentation ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31570889 11748716 RHOA ras homolog family member A gene DOID:9006205 Animal Disease Models ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25783350 11748716 RHOA ras homolog family member A gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:619921 D RGD:9068941 20200609 RGD protein:increased expression:spinal ganglion, macrophage, T cell PMID:17367505|REF_RGD_ID:1642966 11748716 RHOA ras homolog family member A gene DOID:9007828 Abnormalities, Drug-Induced ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25783350 11748716 RHOA ras homolog family member A gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:619921 D RGD:9068941 20200609 RGD protein:altered localization:heart PMID:17322412|REF_RGD_ID:1642967 11748716 RHOA ras homolog family member A gene DOID:9008091 Optic Nerve Injuries ISO RGD:619921 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:retina PMID:17534117|REF_RGD_ID:1642826 11748716 RHOA ras homolog family member A gene DOID:9008443 Colorectal Neoplasms ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:26619011 11748716 RHOA ras homolog family member A gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31570889 11748716 RHOA ras homolog family member A gene DOID:9008939 Breast Neoplasms ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:26619011 11748716 RHOA ras homolog family member A gene DOID:9256 colorectal cancer ISO RGD:1347797 D RGD:9068941 20200609 RGD PMID:17597401|REF_RGD_ID:13432052 11748716 RHOA ras homolog family member A gene DOID:9268 glycine encephalopathy ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:28492532 11748716 RHOA ras homolog family member A gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:619921 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 11748716 RHOA ras homolog family member A gene DOID:987 alopecia ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31570889 11748716 RHOA ras homolog family member A gene DOID:9970 obesity ISO RGD:619921 D RGD:9068941 20200609 RGD protein:increased expression:membrane, aorta, skeletal muscle PMID:16267124|REF_RGD_ID:2298881 11748728 KLK6 kallikrein related peptidase 6 gene DOID:10283 prostate cancer ISO RGD:736738 D RGD:9068941 20200609 RGD protein:decreased expression:prostate PMID:12970725|REF_RGD_ID:2314865 11748728 KLK6 kallikrein related peptidase 6 gene DOID:10652 Alzheimer's disease ISO RGD:736738 D RGD:9068941 20200609 RGD PMID:12074831|PMID:12480753|REF_RGD_ID:1358599|REF_RGD_ID:1358604 11748728 KLK6 kallikrein related peptidase 6 gene DOID:12217 Lewy body dementia ISO RGD:736738 D RGD:9068941 20200609 RGD PMID:12928483|REF_RGD_ID:1358597 11748728 KLK6 kallikrein related peptidase 6 gene DOID:14330 Parkinson's disease ISO RGD:736738 D RGD:9068941 20200609 RGD PMID:12928483|REF_RGD_ID:1358597 11748728 KLK6 kallikrein related peptidase 6 gene DOID:2377 multiple sclerosis ISO RGD:733840 D RGD:9068941 20200609 RGD PMID:11802715|REF_RGD_ID:2314867 11748728 KLK6 kallikrein related peptidase 6 gene DOID:2394 ovarian cancer ISO RGD:736738 D RGD:9068941 20200609 RGD PMID:17303231|REF_RGD_ID:2314855 11748728 KLK6 kallikrein related peptidase 6 gene DOID:3213 demyelinating disease ISO RGD:736738 D RGD:9068941 20200609 RGD PMID:12023317|REF_RGD_ID:1358596 11748728 KLK6 kallikrein related peptidase 6 gene DOID:3459 breast carcinoma ISO RGD:736738 D RGD:9068941 20200609 RGD PMID:18992199|REF_RGD_ID:2314863 11748728 KLK6 kallikrein related peptidase 6 gene DOID:4450 renal cell carcinoma ISO RGD:736738 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:16340244|REF_RGD_ID:2314864 11748728 KLK6 kallikrein related peptidase 6 gene DOID:4752 multiple system atrophy ISO RGD:736738 D RGD:9068941 20200609 RGD PMID:12928483|REF_RGD_ID:1358597 11748728 KLK6 kallikrein related peptidase 6 gene DOID:630 genetic disease ISO RGD:736738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748728 KLK6 kallikrein related peptidase 6 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3419 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:16987227|REF_RGD_ID:2314866 11748728 KLK6 kallikrein related peptidase 6 gene DOID:9000039 Spinal Cord Injuries ISO RGD:736738 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:16987227|REF_RGD_ID:2314866 11748745 ZNF570 zinc finger protein 570 gene DOID:630 genetic disease ISO RGD:1349071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748786 LOC103787041 cytochrome c oxidase assembly protein COX16 homolog, mitochondrial gene DOID:630 genetic disease ISO RGD:1321882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748786 LOC103787041 cytochrome c oxidase assembly protein COX16 homolog, mitochondrial gene DOID:9008899 Mitochondrial Complex IV Deficiency, Nuclear Type 22 ISO RGD:1321882 D RGD:7240710 20210616 OMIM 11748786 LOC103787041 cytochrome c oxidase assembly protein COX16 homolog, mitochondrial gene DOID:9008899 Mitochondrial Complex IV Deficiency, Nuclear Type 22 ISO RGD:1321882 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 22 PMID:33169484 11748795 GALNT17 polypeptide N-acetylgalactosaminyltransferase 17 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1342451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11748795 GALNT17 polypeptide N-acetylgalactosaminyltransferase 17 gene DOID:630 genetic disease ISO RGD:1342451 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748795 GALNT17 polypeptide N-acetylgalactosaminyltransferase 17 gene DOID:9005747 Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability ISO RGD:1342451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability PMID:23332918 11748812 BDH1 3-hydroxybutyrate dehydrogenase 1 gene DOID:0080600 COVID-19 severity ISO RGD:737289 D RGD:9068941 20200625 RGD associated with cardiovascular system disease;protein:increased expression:blood (human) PMID:32456948|REF_RGD_ID:30309957 11748812 BDH1 3-hydroxybutyrate dehydrogenase 1 gene DOID:12849 autistic disorder ISO RGD:737289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11748812 BDH1 3-hydroxybutyrate dehydrogenase 1 gene DOID:5419 schizophrenia ISO RGD:737289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11748812 BDH1 3-hydroxybutyrate dehydrogenase 1 gene DOID:630 genetic disease ISO RGD:737289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748812 BDH1 3-hydroxybutyrate dehydrogenase 1 gene DOID:7998 hyperthyroidism ISO RGD:620131 D RGD:9068941 20200609 RGD protein:decreased activity:liver, mitochondrion (rat) PMID:3422549|REF_RGD_ID:4105460 11748812 BDH1 3-hydroxybutyrate dehydrogenase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 11748812 BDH1 3-hydroxybutyrate dehydrogenase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620131 D RGD:9068941 20200609 RGD protein:decreased activity:heart, mitochondrion (rat) PMID:3548709|REF_RGD_ID:2326100 11748812 BDH1 3-hydroxybutyrate dehydrogenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11748849 SNTG2 syntrophin gamma 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1350202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20808228 11748849 SNTG2 syntrophin gamma 2 gene DOID:12849 autistic disorder ISO RGD:1350202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17292328 11748849 SNTG2 syntrophin gamma 2 gene DOID:630 genetic disease ISO RGD:1350202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748849 SNTG2 syntrophin gamma 2 gene DOID:9002189 High Myopia ISO RGD:1350202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11748889 SNU13 small nuclear ribonucleoprotein 13 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1347136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11748889 SNU13 small nuclear ribonucleoprotein 13 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1347136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 11748900 GOLIM4 golgi integral membrane protein 4 gene DOID:630 genetic disease ISO RGD:1322138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748925 PRR14L proline rich 14 like gene DOID:630 genetic disease ISO RGD:1604500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748957 TCP11L1 t-complex 11 like 1 gene DOID:1059 intellectual disability ISO RGD:1602322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11748957 TCP11L1 t-complex 11 like 1 gene DOID:630 genetic disease ISO RGD:1602322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748985 GUCA2B guanylate cyclase activator 2B gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:736719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11748985 GUCA2B guanylate cyclase activator 2B gene DOID:1184 nephrotic syndrome ISO RGD:736719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15780094 11748985 GUCA2B guanylate cyclase activator 2B gene DOID:630 genetic disease ISO RGD:736719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11748985 GUCA2B guanylate cyclase activator 2B gene DOID:783 end stage renal disease ISO RGD:736719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15780094 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:736157 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:0050788 proximal symphalangism ISO RGD:736157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger PMID:28492532 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:736157 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:1332354 D RGD:9068941 20200609 RGD PMID:29505790|REF_RGD_ID:19165131 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:0080957 primary hypoalphalipoproteinemia 1 ISO RGD:736157 D RGD:7240710 20180802 OMIM 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:0080957 primary hypoalphalipoproteinemia 1 ISO RGD:736157 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Familial high density lipoprotein deficiency disease | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 PMID:10431237|PMID:10706591|PMID:10938021|PMID:11238261|PMID:11257261|PMID:11476965|PMID:11940086|PMID:12009425|PMID:12054535|PMID:12111381|PMID:12204794|PMID:12624133|PMID:12763760|PMID:15019541|PMID:15262183|PMID:15297675|PMID:15486467|PMID:15520867|PMID:15790791|PMID:15935359|PMID:16226177|PMID:16343503|PMID:16372134|PMID:16429166|PMID:16704350|PMID:16806540|PMID:16855366|PMID:16873719|PMID:17113061|PMID:17303779|PMID:17383594|PMID:18199144|PMID:18354102|PMID:18523221|PMID:18776170|PMID:19133158|PMID:19202195|PMID:19596329|PMID:19743957|PMID:20011639|PMID:20093111|PMID:20418488|PMID:20427018|PMID:20595220|PMID:20656214|PMID:20800056|PMID:20880529|PMID:20981092|PMID:21315358|PMID:21575609|PMID:21860089|PMID:21875686|PMID:22923419|PMID:22923420|PMID:22959828|PMID:22995991|PMID:23087442|PMID:23136402|PMID:23139370|PMID:23152888|PMID:23376243|PMID:23559627|PMID:23685560|PMID:23770607|PMID:24036952|PMID:24456889|PMID:24497850|PMID:24503134|PMID:24894453|PMID:25215231|PMID:25741868|PMID:26073400|PMID:26079414|PMID:26255038|PMID:26350511|PMID:27884173|PMID:28492532|PMID:28634189|PMID:28870971|PMID:29083407|PMID:29224928|PMID:29535370|PMID:30333156|PMID:30795984|PMID:31973102|PMID:32041611|PMID:34906502|PMID:35460704|PMID:7945562 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:10652 Alzheimer's disease ISO RGD:736157 D RGD:9068941 20200609 RGD PMID:15024730|REF_RGD_ID:1300323 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:10787 premature menopause ISO RGD:631344 D RGD:9068941 20200609 RGD mRNA:increased expression:liver, jejunum (rat) PMID:24619822|REF_RGD_ID:19165129 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:10976 membranous glomerulonephritis ISO RGD:631344 D RGD:9068941 20200609 RGD PMID:12507911|REF_RGD_ID:1598547 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:1168 familial hyperlipidemia ISO RGD:631344 D RGD:9068941 20200609 RGD PMID:17026988|REF_RGD_ID:1598533 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:1168 familial hyperlipidemia treatment ISO RGD:631344 D RGD:9068941 20200609 RGD PMID:23185768|REF_RGD_ID:21408557 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:12236 primary biliary cholangitis ISO RGD:736157 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:28660384|REF_RGD_ID:21203516 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:13619 extrahepatic cholestasis ISO RGD:631344 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver, basolateral plasma membrane (rat) PMID:28660384|REF_RGD_ID:21203516 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:13810 familial hypercholesterolemia ISO RGD:736157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:19743957|PMID:20800056|PMID:24497850|PMID:25215231|PMID:25741868|PMID:28492532 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:1387 hypolipoproteinemia ISO RGD:736157 D RGD:9068941 20200609 RGD PMID:11086027|REF_RGD_ID:1600951 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:1388 Tangier disease ISO RGD:736157 D RGD:7240710 20180130 OMIM 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:1388 Tangier disease ISO RGD:736157 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: Tangier disease PMID:10431236|PMID:10431237|PMID:10535983|PMID:10706591|PMID:10938021|PMID:11238261|PMID:11257261|PMID:11476961|PMID:11476965|PMID:11940086|PMID:12111381|PMID:12204794|PMID:12624133|PMID:12702168|PMID:12763760|PMID:15262183|PMID:15297675|PMID:15486467|PMID:15520867|PMID:15790791|PMID:15935359|PMID:16226177|PMID:16343503|PMID:16372134|PMID:16429166|PMID:16806540|PMID:16855366|PMID:16873719|PMID:17113061|PMID:17303779|PMID:17383594|PMID:18199144|PMID:18354102|PMID:18523221|PMID:18776170|PMID:19133158|PMID:19202195|PMID:19596329|PMID:19743957|PMID:20011639|PMID:20093111|PMID:20418488|PMID:20427018|PMID:20595220|PMID:20656214|PMID:20800056|PMID:20880529|PMID:20981092|PMID:21315358|PMID:21860089|PMID:21875686|PMID:22923419|PMID:22923420|PMID:22995991|PMID:23087442|PMID:23139370|PMID:23152888|PMID:23376243|PMID:23559627|PMID:23685560|PMID:23770607|PMID:24036952|PMID:24097981|PMID:24456889|PMID:24497850|PMID:24503134|PMID:24894453|PMID:25215231|PMID:25741868|PMID:26255038|PMID:26350511|PMID:27884173|PMID:28492532|PMID:28870971|PMID:29224928|PMID:29535370|PMID:30333156|PMID:30795984|PMID:31973102|PMID:32041611|PMID:35460704 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:1936 atherosclerosis ISO RGD:736157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22022523 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:3393 coronary artery disease ISO RGD:736157 D RGD:9068941 20200609 RGD PMID:11086027|REF_RGD_ID:1600951 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:3459 breast carcinoma ISO RGD:736157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:28492532 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:3571 liver cancer severity ISO RGD:1332354 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (mouse) PMID:30580964|REF_RGD_ID:24922199 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:574 peripheral nervous system disease ISO RGD:736157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:630 genetic disease ISO RGD:736157 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19743957|PMID:20800056|PMID:24497850|PMID:25215231|PMID:25741868|PMID:28492532 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:631344 D RGD:9068941 20200609 RGD PMID:16941710|REF_RGD_ID:1598532 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:736157 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:30580964|REF_RGD_ID:24922199 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:783 end stage renal disease ISO RGD:736157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9000528 Coronary Disease ISO RGD:736157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary heart disease in familial hypercholesterolemia, protection against | ClinVar Annotator: match by term: Early-onset coronary artery disease PMID:11238261|PMID:12624133|PMID:16372134|PMID:16429166|PMID:25741868|PMID:28492532 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:631344 D RGD:9068941 20200609 RGD mRNA:increased expression:liver, jejunum (rat) PMID:24619822|REF_RGD_ID:19165129 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:736157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22022523 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9002117 Hypoalphalipoproteinemias ISO RGD:736157 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease PMID:10431237|PMID:10706591|PMID:10938021|PMID:11238261|PMID:11257261|PMID:12624133|PMID:12763760|PMID:15019541|PMID:15297675|PMID:15486467|PMID:15520867|PMID:15790791|PMID:15935359|PMID:16226177|PMID:16343503|PMID:16372134|PMID:16429166|PMID:16704350|PMID:16806540|PMID:16855366|PMID:16873719|PMID:17303779|PMID:17383594|PMID:18523221|PMID:18776170|PMID:19202195|PMID:19596329|PMID:19743957|PMID:20011639|PMID:20418488|PMID:20427018|PMID:20800056|PMID:20880529|PMID:20981092|PMID:21315358|PMID:21575609|PMID:21860089|PMID:21875686|PMID:22923420|PMID:22959828|PMID:22995991|PMID:23136402|PMID:23139370|PMID:23152888|PMID:23559627|PMID:23685560|PMID:23770607|PMID:24036952|PMID:24497850|PMID:24894453|PMID:25215231|PMID:25741868|PMID:26073400|PMID:26079414|PMID:26255038|PMID:26350511|PMID:27884173|PMID:28492532|PMID:28634189|PMID:28870971|PMID:29083407|PMID:30333156|PMID:7945562 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9002189 High Myopia ISO RGD:736157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:736157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Reduced delayed hypersensitivity PMID:28492532 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:736157 D RGD:9068941 20200609 RGD DNA:SNP:introns:(rs3890182, rs1883025) (human) PMID:28164591|REF_RGD_ID:21066337 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9005369 Hepatomegaly ISO RGD:1332354 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (mouse) PMID:25217640|REF_RGD_ID:21408550 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:736157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16030523 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:736157 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.R230C (rs9282541) (human) PMID:17287470|REF_RGD_ID:1601092 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:736157 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.R230C (rs9282541) (human) PMID:18003760|REF_RGD_ID:2312576 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9452 fatty liver disease ISO RGD:631344 D RGD:9068941 20200609 RGD PMID:15995177|REF_RGD_ID:1598534 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9452 fatty liver disease treatment ISO RGD:1332354 D RGD:9068941 20200609 RGD PMID:26362727|REF_RGD_ID:21408552 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9452 fatty liver disease treatment ISO RGD:1332354 D RGD:9068941 20200609 RGD associated with adult growth hormone deficiency PMID:30130150|REF_RGD_ID:18936993 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9970 obesity disease_progression ISO RGD:631344 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:25612518|REF_RGD_ID:15045599 11748992 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9970 obesity susceptibility ISO RGD:736157 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.R230C (rs9282541) (human) PMID:17287470|REF_RGD_ID:1601092 11749047 LOC100972297 nuclear pore complex-interacting protein family member B15 gene DOID:0050770 polycystic liver disease ISO RGD:11105 D RGD:9068941 20200609 RGD PMID:9988265|REF_RGD_ID:14402035 11749047 LOC100972297 nuclear pore complex-interacting protein family member B15 gene DOID:0050770 polycystic liver disease severity ISO RGD:11105 D RGD:9068941 20200609 RGD PMID:21685914|REF_RGD_ID:14402033 11749047 LOC100972297 nuclear pore complex-interacting protein family member B15 gene DOID:0080322 polycystic kidney disease ISO RGD:3333 D RGD:9068941 20230511 RGD PMID:11913782|REF_RGD_ID:633540 11749047 LOC100972297 nuclear pore complex-interacting protein family member B15 gene DOID:0110858 polycystic kidney disease 1 ISO RGD:11105 D RGD:9068941 20230506 MouseDO OMIM:173900 11749047 LOC100972297 nuclear pore complex-interacting protein family member B15 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:11105 D RGD:9068941 20230504 MouseDO OMIM:263200 11749047 LOC100972297 nuclear pore complex-interacting protein family member B15 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:11105 D RGD:9068941 20220825 MouseDO 11749047 LOC100972297 nuclear pore complex-interacting protein family member B15 gene DOID:898 autosomal dominant polycystic kidney disease severity ISO RGD:11105 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R3277C (mouse) PMID:23064367|REF_RGD_ID:7175280 11749067 KHDRBS1 KH RNA binding domain containing, signal transduction associated 1 gene DOID:1936 atherosclerosis ameliorates ISO RGD:734417 D RGD:9068941 20230330 RGD ApoE knockout mice PMID:30529164|REF_RGD_ID:243048424 11749067 KHDRBS1 KH RNA binding domain containing, signal transduction associated 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:734416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11749067 KHDRBS1 KH RNA binding domain containing, signal transduction associated 1 gene DOID:630 genetic disease ISO RGD:734416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11749081 CAPN1 calpain 1 gene DOID:0081292 traumatic brain injury ISO RGD:2267 D RGD:9068941 20200609 RGD protein:increased expression:cytosol, plasma membrane PMID:9469158|REF_RGD_ID:13792664 11749081 CAPN1 calpain 1 gene DOID:0110821 hereditary spastic paraplegia 76 ISO RGD:736980 D RGD:7240710 20190315 OMIM 11749081 CAPN1 calpain 1 gene DOID:0110821 hereditary spastic paraplegia 76 ISO RGD:736980 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 76 PMID:17576681|PMID:25741868|PMID:27153400|PMID:27320912|PMID:28492532|PMID:28566166|PMID:29379883|PMID:30198554|PMID:32214227|PMID:32860008|PMID:33486633|PMID:9536098 11749081 CAPN1 calpain 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:736980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11749081 CAPN1 calpain 1 gene DOID:10230 aortic atherosclerosis ISO RGD:2267 D RGD:9068941 20200609 RGD protein:increased activity:aorta PMID:23006733|REF_RGD_ID:13792498 11749081 CAPN1 calpain 1 gene DOID:1059 intellectual disability ISO RGD:736980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11749081 CAPN1 calpain 1 gene DOID:10652 Alzheimer's disease ISO RGD:736980 D RGD:9068941 20200609 RGD protein:increased activity:brain: PMID:11231011|REF_RGD_ID:13792663 11749081 CAPN1 calpain 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:736980 D RGD:9068941 20200609 RGD PMID:8622780|REF_RGD_ID:13792495 11749081 CAPN1 calpain 1 gene DOID:11446 sciatic neuropathy ISO RGD:2267 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle tissue of tibialis anterior PMID:24745757|REF_RGD_ID:13792589 11749081 CAPN1 calpain 1 gene DOID:1210 optic neuritis ISO RGD:736980 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23860028 11749081 CAPN1 calpain 1 gene DOID:14566 disease of cellular proliferation ISO RGD:736980 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19266085 11749081 CAPN1 calpain 1 gene DOID:1826 epilepsy treatment ISO RGD:2267 D RGD:9068941 20200609 RGD PMID:25924429|REF_RGD_ID:13792591 11749081 CAPN1 calpain 1 gene DOID:1909 melanoma ISO RGD:736980 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11749081 CAPN1 calpain 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11749081 CAPN1 calpain 1 gene DOID:2746 glycogen storage disease V ISO RGD:736980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11749081 CAPN1 calpain 1 gene DOID:3021 acute kidney failure treatment ISO RGD:2267 D RGD:9068941 20200609 RGD associated with Rhabdomyolysis; PMID:24158126|REF_RGD_ID:13792553 11749081 CAPN1 calpain 1 gene DOID:3070 high grade glioma ISO RGD:736980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11749081 CAPN1 calpain 1 gene DOID:630 genetic disease ISO RGD:736980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11749081 CAPN1 calpain 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2267 D RGD:9068941 20200609 RGD PMID:23102374|REF_RGD_ID:13792496 11749081 CAPN1 calpain 1 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:12061939 D RGD:9068941 20210604 OMIA Ataxia, spinocerebellar, CAPN1-related PMID:15320590|PMID:2061870|PMID:22634896|PMID:22872628|PMID:23741357|PMID:24736825|PMID:24736826|PMID:27153400|PMID:27259058|PMID:27320912|PMID:30650096|PMID:4747697 11749081 CAPN1 calpain 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:736980 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11749081 CAPN1 calpain 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:736980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11749124 BIN1 bridging integrator 1 gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:732350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:28492532 11749124 BIN1 bridging integrator 1 gene DOID:0111216 autosomal recessive centronuclear myopathy ISO RGD:12106519 D RGD:9068941 20210604 OMIA Centronuclear myopathy 2, BIN1-related PMID:16674719|PMID:17017655|PMID:18271825|PMID:19135395|PMID:23754947|PMID:3680647 11749124 BIN1 bridging integrator 1 gene DOID:0111216 autosomal recessive centronuclear myopathy ISO RGD:732350 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11749124 BIN1 bridging integrator 1 gene DOID:0111220 centronuclear myopathy 2 ISO RGD:732350 D RGD:7240710 20180130 OMIM 11749124 BIN1 bridging integrator 1 gene DOID:0111220 centronuclear myopathy 2 ISO RGD:732350 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:16199547|PMID:17576681|PMID:17676042|PMID:18414213|PMID:20142620|PMID:22912834|PMID:22960267|PMID:24033266|PMID:24755653|PMID:25262827|PMID:25640679|PMID:25741868|PMID:26101835|PMID:26467025|PMID:28492532|PMID:28687524|PMID:29103045|PMID:29950440|PMID:31127772|PMID:9536098 11749124 BIN1 bridging integrator 1 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:732350 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 11749124 BIN1 bridging integrator 1 gene DOID:10652 Alzheimer's disease ISO RGD:732350 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:21460841|PMID:33589840 11749124 BIN1 bridging integrator 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:732350 D RGD:9068941 20200609 RGD PMID:12532338|REF_RGD_ID:1580047 11749124 BIN1 bridging integrator 1 gene DOID:3459 breast carcinoma ISO RGD:732350 D RGD:9068941 20200609 RGD PMID:10652430|REF_RGD_ID:1580043 11749124 BIN1 bridging integrator 1 gene DOID:422 congenital structural myopathy ISO RGD:732350 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17676042 11749124 BIN1 bridging integrator 1 gene DOID:630 genetic disease ISO RGD:732350 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11749124 BIN1 bridging integrator 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:732350 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30503753 11749163 ART4 ADP-ribosyltransferase 4 (inactive) (Dombrock blood group) gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1315084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 11749163 ART4 ADP-ribosyltransferase 4 (inactive) (Dombrock blood group) gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1315084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 11749163 ART4 ADP-ribosyltransferase 4 (inactive) (Dombrock blood group) gene DOID:630 genetic disease ISO RGD:1315084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11749170 NEURL1B neuralized E3 ubiquitin protein ligase 1B gene DOID:0110112 atrial heart septal defect 7 ISO RGD:2303667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 11749170 NEURL1B neuralized E3 ubiquitin protein ligase 1B gene DOID:10908 hydrocephalus ISO RGD:2303667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 11749170 NEURL1B neuralized E3 ubiquitin protein ligase 1B gene DOID:630 genetic disease ISO RGD:2303667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11749170 NEURL1B neuralized E3 ubiquitin protein ligase 1B gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:2303667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 11749196 PMEL premelanosome protein gene DOID:1909 melanoma ISO RGD:1316751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26640592 11749196 PMEL premelanosome protein gene DOID:630 genetic disease ISO RGD:1316751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11749220 SPCS2 signal peptidase complex subunit 2 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1345346 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11749220 SPCS2 signal peptidase complex subunit 2 gene DOID:1059 intellectual disability ISO RGD:1345346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11749220 SPCS2 signal peptidase complex subunit 2 gene DOID:630 genetic disease ISO RGD:1345346 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11749229 GET3 guided entry of tail-anchored proteins factor 3, ATPase gene DOID:0050990 episodic ataxia type 2 ISO RGD:1317371 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11749229 GET3 guided entry of tail-anchored proteins factor 3, ATPase gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1317371 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11749229 GET3 guided entry of tail-anchored proteins factor 3, ATPase gene DOID:0111254 glutaric acidemia I ISO RGD:1317371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11749229 GET3 guided entry of tail-anchored proteins factor 3, ATPase gene DOID:10283 prostate cancer ISO RGD:1317371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11749229 GET3 guided entry of tail-anchored proteins factor 3, ATPase gene DOID:3413 alpha-mannosidosis ISO RGD:1317371 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11749229 GET3 guided entry of tail-anchored proteins factor 3, ATPase gene DOID:630 genetic disease ISO RGD:1317371 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11749229 GET3 guided entry of tail-anchored proteins factor 3, ATPase gene DOID:9008315 Dilated Cardiomyopathy 2H ISO RGD:1317371 D RGD:7240710 20230125 OMIM 11749229 GET3 guided entry of tail-anchored proteins factor 3, ATPase gene DOID:9008315 Dilated Cardiomyopathy 2H ISO RGD:1317371 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2H PMID:31461301 11749241 WDR25 WD repeat domain 25 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1606781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 11749241 WDR25 WD repeat domain 25 gene DOID:2843 long QT syndrome ISO RGD:1606781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11749241 WDR25 WD repeat domain 25 gene DOID:630 genetic disease ISO RGD:1606781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11749262 LOC100983382 olfactory receptor 4S2 gene DOID:1059 intellectual disability ISO RGD:1345934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11749262 LOC100983382 olfactory receptor 4S2 gene DOID:630 genetic disease ISO RGD:1345934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11749263 HHIPL2 HHIP like 2 gene DOID:0050439 Usher syndrome ISO RGD:1605638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 11749263 HHIPL2 HHIP like 2 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1605638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 11749263 HHIPL2 HHIP like 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1605638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11749263 HHIPL2 HHIP like 2 gene DOID:630 genetic disease ISO RGD:1605638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11749263 HHIPL2 HHIP like 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11749275 LMO4 LIM domain only 4 gene DOID:0060668 anencephaly ISO RGD:1313838 D RGD:9068941 20220825 MouseDO OMIM:206500 11749275 LMO4 LIM domain only 4 gene DOID:630 genetic disease ISO RGD:1313837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11749287 MESP2 mesoderm posterior bHLH transcription factor 2 gene DOID:0050568 spondylocostal dysostosis ISO RGD:1606451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis PMID:25741868 11749287 MESP2 mesoderm posterior bHLH transcription factor 2 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1606451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 11749287 MESP2 mesoderm posterior bHLH transcription factor 2 gene DOID:0112362 spondylocostal dysostosis 2 ISO RGD:1606451 D RGD:7240710 20180130 OMIM 11749287 MESP2 mesoderm posterior bHLH transcription factor 2 gene DOID:0112362 spondylocostal dysostosis 2 ISO RGD:1606451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive PMID:15122512|PMID:18485326|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9242490 11749287 MESP2 mesoderm posterior bHLH transcription factor 2 gene DOID:2717 Bloom syndrome ISO RGD:1606451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11749287 MESP2 mesoderm posterior bHLH transcription factor 2 gene DOID:630 genetic disease ISO RGD:1606451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11749287 MESP2 mesoderm posterior bHLH transcription factor 2 gene DOID:9006006 Spondylocostal Dysostosis, Autosomal Recessive ISO RGD:1606451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11749287 MESP2 mesoderm posterior bHLH transcription factor 2 gene DOID:9256 colorectal cancer ISO RGD:1606451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11749294 ATP5IF1 ATP synthase inhibitory factor subunit 1 gene DOID:305 carcinoma ISO RGD:1552540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 11749294 ATP5IF1 ATP synthase inhibitory factor subunit 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1552540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 11749294 ATP5IF1 ATP synthase inhibitory factor subunit 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1552540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 11749294 ATP5IF1 ATP synthase inhibitory factor subunit 1 gene DOID:9452 fatty liver disease ISO RGD:1552540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11749301 STX17 syntaxin 17 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1352651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 11749301 STX17 syntaxin 17 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1352651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 11749301 STX17 syntaxin 17 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1352651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 11749301 STX17 syntaxin 17 gene DOID:1059 intellectual disability ISO RGD:1352651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11749301 STX17 syntaxin 17 gene DOID:12712 nephronophthisis ISO RGD:1352651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 11749301 STX17 syntaxin 17 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1352651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 11749301 STX17 syntaxin 17 gene DOID:1909 melanoma ISO RGD:1352651 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18641652 11749301 STX17 syntaxin 17 gene DOID:630 genetic disease ISO RGD:1352651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11749301 STX17 syntaxin 17 gene DOID:986 alopecia areata ISO RGD:1352651 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20596022 11749353 DCK deoxycytidine kinase gene DOID:630 genetic disease ISO RGD:1344747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11749353 DCK deoxycytidine kinase gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1344747 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11749371 SIX5 SIX homeobox 5 gene DOID:0111424 branchiootorenal syndrome 2 ISO RGD:1312832 D RGD:7240710 20191106 OMIM 11749371 SIX5 SIX homeobox 5 gene DOID:0111424 branchiootorenal syndrome 2 ISO RGD:1312832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Branchiootorenal syndrome 2 PMID:17357085|PMID:21280147|PMID:24429398|PMID:25741868|PMID:26467025|PMID:27657687|PMID:28492532 11749371 SIX5 SIX homeobox 5 gene DOID:14702 branchiootorenal syndrome ISO RGD:1312832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11749371 SIX5 SIX homeobox 5 gene DOID:630 genetic disease ISO RGD:1312832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11749410 MATK megakaryocyte-associated tyrosine kinase gene DOID:0080600 COVID-19 ISO RGD:69108 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11749410 MATK megakaryocyte-associated tyrosine kinase gene DOID:13938 amenorrhea ISO RGD:69108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11749410 MATK megakaryocyte-associated tyrosine kinase gene DOID:630 genetic disease ISO RGD:69108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11749432 EPHA5 EPH receptor A5 gene DOID:3070 high grade glioma ISO RGD:1605127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:25741868 11749432 EPHA5 EPH receptor A5 gene DOID:3910 lung adenocarcinoma ISO RGD:1605127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:16140923 11749432 EPHA5 EPH receptor A5 gene DOID:630 genetic disease ISO RGD:1605127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11749432 EPHA5 EPH receptor A5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11749454 PPFIA4 PTPRF interacting protein alpha 4 gene DOID:0060224 atrial fibrillation ISO RGD:737078 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28416822|PMID:29892015|PMID:30061737 11749454 PPFIA4 PTPRF interacting protein alpha 4 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:737078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11749454 PPFIA4 PTPRF interacting protein alpha 4 gene DOID:1540 parathyroid carcinoma ISO RGD:737078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11749454 PPFIA4 PTPRF interacting protein alpha 4 gene DOID:630 genetic disease ISO RGD:737078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11749454 PPFIA4 PTPRF interacting protein alpha 4 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:737078 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11749454 PPFIA4 PTPRF interacting protein alpha 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11749497 CSF2 colony stimulating factor 2 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22315502 11749497 CSF2 colony stimulating factor 2 gene DOID:0050458 juvenile myelomonocytic leukemia treatment ISO RGD:1354508 D RGD:9068941 20200609 RGD PMID:9389708|REF_RGD_ID:10449526 11749497 CSF2 colony stimulating factor 2 gene DOID:0050852 limb ischemia ISO RGD:1551314 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:16648859|REF_RGD_ID:10449511 11749497 CSF2 colony stimulating factor 2 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11486401|PMID:11732872|PMID:7680712 11749497 CSF2 colony stimulating factor 2 gene DOID:0080074 neural tube defect ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17075842 11749497 CSF2 colony stimulating factor 2 gene DOID:0080178 mucositis ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8120554 11749497 CSF2 colony stimulating factor 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 11749497 CSF2 colony stimulating factor 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1354508 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11749497 CSF2 colony stimulating factor 2 gene DOID:0080600 COVID-19 severity ISO RGD:1354508 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 11749497 CSF2 colony stimulating factor 2 gene DOID:0080855 Parkinsonism ISO RGD:621065 D RGD:9068941 20200609 RGD PMID:21291297|REF_RGD_ID:5131508 11749497 CSF2 colony stimulating factor 2 gene DOID:10325 silicosis ISO RGD:621065 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21505002|REF_RGD_ID:10450467 11749497 CSF2 colony stimulating factor 2 gene DOID:10914 amnestic disorder ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8877002 11749497 CSF2 colony stimulating factor 2 gene DOID:1115 sarcoma ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11605069 11749497 CSF2 colony stimulating factor 2 gene DOID:11339 pneumocystosis ISO RGD:621065 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:19487471|REF_RGD_ID:5131475 11749497 CSF2 colony stimulating factor 2 gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:1354508 D RGD:9068941 20200609 RGD PMID:11179134|PMID:21478218|PMID:9763547|REF_RGD_ID:10449509|REF_RGD_ID:10449522|REF_RGD_ID:5131467 11749497 CSF2 colony stimulating factor 2 gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:1551314 D RGD:9068941 20220825 MouseDO OMIM:265120 | OMIM:300770 | OMIM:610913 | OMIM:610921 | OMIM:614370 11749497 CSF2 colony stimulating factor 2 gene DOID:1227 neutropenia ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11264156|PMID:7875148 11749497 CSF2 colony stimulating factor 2 gene DOID:1227 neutropenia treatment ISO RGD:1354508 D RGD:9068941 20200609 RGD PMID:10832225|REF_RGD_ID:10449510 11749497 CSF2 colony stimulating factor 2 gene DOID:12449 aplastic anemia ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12221670|PMID:9885444 11749497 CSF2 colony stimulating factor 2 gene DOID:12987 agranulocytosis ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11732872|PMID:8120554 11749497 CSF2 colony stimulating factor 2 gene DOID:13375 temporal arteritis ISO RGD:1354508 D RGD:9068941 20200609 RGD PMID:9844760|REF_RGD_ID:11059502 11749497 CSF2 colony stimulating factor 2 gene DOID:13949 interstitial cystitis ISO RGD:621065 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:18848347|REF_RGD_ID:2317284 11749497 CSF2 colony stimulating factor 2 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1354508 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:28492532 11749497 CSF2 colony stimulating factor 2 gene DOID:14566 disease of cellular proliferation ISO RGD:1551314 D RGD:9068941 20200609 RGD DNA:mutations:multiple: Csf2,Ifng,Il3 PMID:21537082|REF_RGD_ID:5686773 11749497 CSF2 colony stimulating factor 2 gene DOID:1588 thrombocytopenia ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8297739 11749497 CSF2 colony stimulating factor 2 gene DOID:1909 melanoma ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11061616 11749497 CSF2 colony stimulating factor 2 gene DOID:234 colon adenocarcinoma treatment ISO RGD:1551314 D RGD:9068941 20200609 RGD PMID:10830715|REF_RGD_ID:10450245 11749497 CSF2 colony stimulating factor 2 gene DOID:2355 anemia ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11732872|PMID:8297739 11749497 CSF2 colony stimulating factor 2 gene DOID:2799 bronchiolitis obliterans ISO RGD:621065 D RGD:9068941 20200609 RGD associated with Respiratory Aspiration;protein:increased expression:serum PMID:18557728|REF_RGD_ID:2317286 11749497 CSF2 colony stimulating factor 2 gene DOID:2841 asthma ISO RGD:1551314 D RGD:9068941 20200609 RGD PMID:9717963|REF_RGD_ID:10449521 11749497 CSF2 colony stimulating factor 2 gene DOID:2841 asthma ISO RGD:1551314 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20405019|REF_RGD_ID:5131473 11749497 CSF2 colony stimulating factor 2 gene DOID:2841 asthma severity ISO RGD:1354508 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:19213775|REF_RGD_ID:5131476 11749497 CSF2 colony stimulating factor 2 gene DOID:305 carcinoma ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11605069 11749497 CSF2 colony stimulating factor 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1354508 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:19213775|REF_RGD_ID:5131476 11749497 CSF2 colony stimulating factor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17894541 11749497 CSF2 colony stimulating factor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:621065 D RGD:9068941 20200609 RGD mRNA:increased expression:lung: PMID:9881949|REF_RGD_ID:10449530 11749497 CSF2 colony stimulating factor 2 gene DOID:530 eyelid disease ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17075842 11749497 CSF2 colony stimulating factor 2 gene DOID:5419 schizophrenia ISO RGD:1354508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11749497 CSF2 colony stimulating factor 2 gene DOID:552 pneumonia ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11732872 11749497 CSF2 colony stimulating factor 2 gene DOID:552 pneumonia ISO RGD:1551314 D RGD:9068941 20200609 RGD PMID:19633061|REF_RGD_ID:4142837 11749497 CSF2 colony stimulating factor 2 gene DOID:5844 myocardial infarction ISO RGD:621065 D RGD:9068941 20200609 RGD PMID:21326109|REF_RGD_ID:5131507 11749497 CSF2 colony stimulating factor 2 gene DOID:6000 congestive heart failure ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11732872 11749497 CSF2 colony stimulating factor 2 gene DOID:630 genetic disease ISO RGD:1354508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11749497 CSF2 colony stimulating factor 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1551314 D RGD:9068941 20200609 RGD PMID:12731087|REF_RGD_ID:10450243 11749497 CSF2 colony stimulating factor 2 gene DOID:707 B-cell lymphoma treatment ISO RGD:1551314 D RGD:9068941 20200609 RGD PMID:8469286|REF_RGD_ID:10450244 11749497 CSF2 colony stimulating factor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 11749497 CSF2 colony stimulating factor 2 gene DOID:7693 abdominal aortic aneurysm ISO RGD:621065 D RGD:9068941 20201002 RGD protein:decreased expression:serum (rat) PMID:15238617|REF_RGD_ID:1302825 11749497 CSF2 colony stimulating factor 2 gene DOID:7693 abdominal aortic aneurysm severity ISO RGD:621065 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta: PMID:15010288|REF_RGD_ID:10450246 11749497 CSF2 colony stimulating factor 2 gene DOID:8893 psoriasis ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7744320 11749497 CSF2 colony stimulating factor 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1354508 D RGD:9068941 20200609 RGD PMID:15658127|REF_RGD_ID:10449531 11749497 CSF2 colony stimulating factor 2 gene DOID:9000111 Radiation Injuries ISO RGD:1551314 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow,spleen: PMID:7662961|REF_RGD_ID:10449513 11749497 CSF2 colony stimulating factor 2 gene DOID:9000242 Lymphoma, AIDS-Related ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7680712|PMID:9817281 11749497 CSF2 colony stimulating factor 2 gene DOID:9000641 Pain ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8622042 11749497 CSF2 colony stimulating factor 2 gene DOID:9000998 Brain Injuries disease_progression ISO RGD:621065 D RGD:9068941 20200609 RGD PMID:21515263|REF_RGD_ID:5686795 11749497 CSF2 colony stimulating factor 2 gene DOID:9001488 Human Influenza ISO RGD:1354508 D RGD:9068941 20200609 RGD PMID:20427198|REF_RGD_ID:5131472 11749497 CSF2 colony stimulating factor 2 gene DOID:9001488 Human Influenza ISO RGD:1551314 D RGD:9068941 20200609 RGD PMID:21474645|REF_RGD_ID:5131470 11749497 CSF2 colony stimulating factor 2 gene DOID:9003278 Neoplasm, Residual ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14654953 11749497 CSF2 colony stimulating factor 2 gene DOID:9003871 Venous Thrombosis ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8120554 11749497 CSF2 colony stimulating factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11749497 CSF2 colony stimulating factor 2 gene DOID:9004484 Sepsis ISO RGD:1354508 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:10664226|REF_RGD_ID:10449523 11749497 CSF2 colony stimulating factor 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 11749497 CSF2 colony stimulating factor 2 gene DOID:9005036 Bacteremia treatment ISO RGD:1551314 D RGD:9068941 20200609 RGD PMID:2192004|REF_RGD_ID:10449532 11749497 CSF2 colony stimulating factor 2 gene DOID:9005372 Inflammation ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159501 11749497 CSF2 colony stimulating factor 2 gene DOID:9005532 Muscle Weakness ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8622042 11749497 CSF2 colony stimulating factor 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7960606 11749497 CSF2 colony stimulating factor 2 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1354508 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucus PMID:20088864|REF_RGD_ID:4143440 11749497 CSF2 colony stimulating factor 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354508 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11749497 CSF2 colony stimulating factor 2 gene DOID:9007073 Cough treatment ISO RGD:1354508 D RGD:9068941 20200609 RGD PMID:9525446|REF_RGD_ID:10449525 11749497 CSF2 colony stimulating factor 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17326190 11749497 CSF2 colony stimulating factor 2 gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:1551314 D RGD:9068941 20200609 RGD associated with Neutropenia; PMID:1966550|REF_RGD_ID:10449524 11749497 CSF2 colony stimulating factor 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15289873 11749497 CSF2 colony stimulating factor 2 gene DOID:9008763 Femoral Fractures ISO RGD:621065 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21442011|REF_RGD_ID:5131471 11749497 CSF2 colony stimulating factor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11325840 11749497 CSF2 colony stimulating factor 2 gene DOID:9008975 Gastrointestinal Hemorrhage ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11732872 11749497 CSF2 colony stimulating factor 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21441929 11749497 CSF2 colony stimulating factor 2 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1354508 D RGD:9068941 20200609 RGD PMID:1826536|REF_RGD_ID:10449528 11749497 CSF2 colony stimulating factor 2 gene DOID:9146 visceral leishmaniasis ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17404324 11749497 CSF2 colony stimulating factor 2 gene DOID:9146 visceral leishmaniasis treatment ISO RGD:1354508 D RGD:9068941 20200609 RGD PMID:8035028|REF_RGD_ID:10449527 11749497 CSF2 colony stimulating factor 2 gene DOID:9538 multiple myeloma ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7540856|PMID:8104070|PMID:8555506 11749533 OCM oncomodulin gene DOID:0070271 Lynch syndrome 1 ISO RGD:737307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868|PMID:36647049 11749533 OCM oncomodulin gene DOID:3883 Lynch syndrome ISO RGD:737307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:10037723|PMID:16338176|PMID:20533529|PMID:21618646|PMID:24440087|PMID:26318770|PMID:28492532 11749533 OCM oncomodulin gene DOID:630 genetic disease ISO RGD:737307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11749549 CNFN cornifelin gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1350274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11749549 CNFN cornifelin gene DOID:1342 congenital hypoplastic anemia ISO RGD:1350274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11749549 CNFN cornifelin gene DOID:2340 craniosynostosis ISO RGD:1350274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11749549 CNFN cornifelin gene DOID:5419 schizophrenia ISO RGD:1350274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11749549 CNFN cornifelin gene DOID:630 genetic disease ISO RGD:1350274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11749549 CNFN cornifelin gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1350274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11749549 CNFN cornifelin gene DOID:9269 maple syrup urine disease ISO RGD:1350274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11749561 ZYX zyxin gene DOID:630 genetic disease ISO RGD:1347879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11749561 ZYX zyxin gene DOID:9008443 Colorectal Neoplasms ISO RGD:1347879 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30697742 11749574 PKD2L1 polycystin 2 like 1, transient receptor potential cation channel gene DOID:10283 prostate cancer ISO RGD:1314779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11749574 PKD2L1 polycystin 2 like 1, transient receptor potential cation channel gene DOID:630 genetic disease ISO RGD:1314779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11749597 POP5 POP5 homolog, ribonuclease P/MRP subunit gene DOID:630 genetic disease ISO RGD:1323474 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11749613 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:0050777 Joubert syndrome ISO RGD:1316868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11749613 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:0050902 medulloblastoma ISO RGD:1316868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 11749613 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1316868 D RGD:7240710 20190320 OMIM 11749613 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1316868 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16199547|PMID:16826528|PMID:17576681|PMID:18414213|PMID:19264732|PMID:20945554|PMID:21538692|PMID:22318994|PMID:22670141|PMID:22890305|PMID:23232695|PMID:24088041|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26633542|PMID:26633545|PMID:26833960|PMID:27651234|PMID:27891178|PMID:28057753|PMID:28166811|PMID:28492532|PMID:29276005|PMID:29416845|PMID:29758562|PMID:30370152|PMID:30525188|PMID:30982612|PMID:31209758|PMID:31785789|PMID:32335911|PMID:32860008|PMID:33767182|PMID:9536098 11749613 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1316868 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 11749613 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11749613 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316868 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11749613 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1316868 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:25741868 11749613 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:0080597 Kleefstra syndrome ISO RGD:1316868 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome PMID:25741868 11749613 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1316868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11749613 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:1316868 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11749613 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:1316868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 11749613 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:1826 epilepsy ISO RGD:1316868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11749613 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1316868 D RGD:9068941 20200609 RGD protein:increased expression:esophagus mucosa: PMID:24805087|REF_RGD_ID:9590071 11749613 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1316868 D RGD:9068941 20200609 RGD protein:increased expression:esophagus: PMID:24649311|REF_RGD_ID:9589143 11749613 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:1316868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:25741868 11749613 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1316868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15805155|PMID:16826528|PMID:17576681|PMID:18264113|PMID:18414213|PMID:19264732|PMID:20945554|PMID:22670141|PMID:22726846|PMID:25741868|PMID:26808425|PMID:28057753|PMID:28492532|PMID:9536098 11749613 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11749613 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1316868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11749613 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1316868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11749613 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1316868 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:23232695|PMID:25741868|PMID:30370152 11749613 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1316868 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:32889036 11749667 CNN2 calponin 2 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1350375 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 11749667 CNN2 calponin 2 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1350375 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 11749667 CNN2 calponin 2 gene DOID:4450 renal cell carcinoma ISO RGD:1350375 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 11749667 CNN2 calponin 2 gene DOID:5339 cyclic hematopoiesis ISO RGD:1350375 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11749667 CNN2 calponin 2 gene DOID:630 genetic disease ISO RGD:1350375 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11749667 CNN2 calponin 2 gene DOID:9007098 Pulmonary Atresia ISO RGD:1350375 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia 11749668 SORCS1 sortilin related VPS10 domain containing receptor 1 gene DOID:0110038 Alzheimer's disease 6 ISO RGD:1314224 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Alzheimer disease 6 PMID:19241460|PMID:21280075|PMID:25741868 11749668 SORCS1 sortilin related VPS10 domain containing receptor 1 gene DOID:10283 prostate cancer ISO RGD:1314224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11749668 SORCS1 sortilin related VPS10 domain containing receptor 1 gene DOID:576 proteinuria ISO RGD:1305910 D RGD:9068941 20200609 RGD associated with hypertension PMID:23780848|REF_RGD_ID:12910977 11749668 SORCS1 sortilin related VPS10 domain containing receptor 1 gene DOID:630 genetic disease ISO RGD:1314224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11749704 KRT35 keratin 35 gene DOID:630 genetic disease ISO RGD:1354440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11749716 SCMH1 Scm polycomb group protein homolog 1 gene DOID:0060224 atrial fibrillation ISO RGD:1314031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11749716 SCMH1 Scm polycomb group protein homolog 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1314031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11749716 SCMH1 Scm polycomb group protein homolog 1 gene DOID:0111938 immunodeficiency 24 ISO RGD:1314031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency PMID:28492532 11749716 SCMH1 Scm polycomb group protein homolog 1 gene DOID:630 genetic disease ISO RGD:1314031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11749759 PROM1 prominin 1 gene DOID:0050439 Usher syndrome ISO RGD:1345263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome 11749759 PROM1 prominin 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:1345263 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CONE-ROD RETINAL DYSTROPHY | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:10205271|PMID:16199547|PMID:17605048|PMID:19718270|PMID:23591405|PMID:23757202|PMID:24154662|PMID:24474277|PMID:25474345|PMID:25741868|PMID:25999674|PMID:26103963|PMID:26261540|PMID:26702251|PMID:27874104|PMID:28041643|PMID:28492532|PMID:30588538|PMID:31199449 11749759 PROM1 prominin 1 gene DOID:0050777 Joubert syndrome ISO RGD:1345263 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11749759 PROM1 prominin 1 gene DOID:0050817 Stargardt disease ISO RGD:1345263 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:10205271|PMID:12657606|PMID:16199547|PMID:17576681|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:24154662|PMID:24516651|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25999674|PMID:26103963|PMID:26261540|PMID:27874104|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29847639|PMID:30578500|PMID:30588538|PMID:30718709|PMID:31129250|PMID:9536098 11749759 PROM1 prominin 1 gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:1345263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:17605048|PMID:19718270|PMID:24154662|PMID:24938718|PMID:25474345|PMID:25741868|PMID:28492532|PMID:31054281 11749759 PROM1 prominin 1 gene DOID:0110376 retinitis pigmentosa 41 ISO RGD:1345263 D RGD:7240710 20180130 OMIM 11749759 PROM1 prominin 1 gene DOID:0110376 retinitis pigmentosa 41 ISO RGD:1345263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 41 PMID:10205271|PMID:10587575|PMID:16199547|PMID:17605048|PMID:19718270|PMID:20042663|PMID:24154662|PMID:24516651|PMID:24938718|PMID:25356976|PMID:25472526|PMID:25474345|PMID:25741868|PMID:25910913|PMID:25999674|PMID:26103963|PMID:26261540|PMID:26355662|PMID:26872967|PMID:27874104|PMID:28041643|PMID:28095140|PMID:28492532|PMID:29343940|PMID:29555955|PMID:30578500|PMID:30588538|PMID:31054281|PMID:31129250|PMID:31199449 11749759 PROM1 prominin 1 gene DOID:0111005 cone-rod dystrophy 2 ISO RGD:1345263 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 PMID:10205271|PMID:17605048|PMID:19718270|PMID:24154662|PMID:25474345|PMID:25741868|PMID:25999674|PMID:26103963|PMID:26153215|PMID:26261540|PMID:27874104|PMID:28041643|PMID:28492532|PMID:30588538 11749759 PROM1 prominin 1 gene DOID:0111019 cone-rod dystrophy 12 ISO RGD:1345263 D RGD:7240710 20180130 OMIM 11749759 PROM1 prominin 1 gene DOID:0111019 cone-rod dystrophy 12 ISO RGD:1345263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 12 PMID:10205271|PMID:12657606|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20554613|PMID:20859302|PMID:22025579|PMID:22183351|PMID:22581970|PMID:23105016|PMID:23591405|PMID:24154662|PMID:24265693|PMID:24474277|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:25999674|PMID:26103963|PMID:26161267|PMID:26261540|PMID:26355662|PMID:26702251|PMID:27874104|PMID:28041643|PMID:28095140|PMID:28492532|PMID:28559085|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30588538|PMID:30718709|PMID:31199449|PMID:32820593|PMID:33546218 11749759 PROM1 prominin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1345263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10205271|PMID:12657606|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:23105016|PMID:23757202|PMID:24154662|PMID:24265693|PMID:24938718|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:25999674|PMID:26103963|PMID:26161267|PMID:26261540|PMID:26355662|PMID:26393467|PMID:26872967|PMID:27874104|PMID:28041643|PMID:28095140|PMID:28492532|PMID:28559085|PMID:29186038|PMID:29847639|PMID:30718709 11749759 PROM1 prominin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1345263 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10205271|PMID:12657606|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:23105016|PMID:23757202|PMID:24154662|PMID:24265693|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:25999674|PMID:26103963|PMID:26161267|PMID:26261540|PMID:26355662|PMID:26393467|PMID:26872967|PMID:27874104|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29186038|PMID:29847639|PMID:30588538|PMID:30718709 11749759 PROM1 prominin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1345263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10205271|PMID:12657606|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:23105016|PMID:23757202|PMID:24154662|PMID:24265693|PMID:24938718|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:25999674|PMID:26103963|PMID:26161267|PMID:26261540|PMID:26355662|PMID:26872967|PMID:27874104|PMID:28041643|PMID:28095140|PMID:28492532|PMID:28559085|PMID:29186038|PMID:29847639|PMID:30215852|PMID:30588538|PMID:30718709|PMID:32581362 11749759 PROM1 prominin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1345263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10205271|PMID:12657606|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:23105016|PMID:23757202|PMID:24154662|PMID:24265693|PMID:24938718|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:25999674|PMID:26103963|PMID:26161267|PMID:26261540|PMID:26355662|PMID:26872967|PMID:27874104|PMID:28041643|PMID:28095140|PMID:28492532|PMID:28559085|PMID:29186038|PMID:29847639|PMID:30215852|PMID:30588538|PMID:30718709|PMID:32581362|PMID:32820593 11749759 PROM1 prominin 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1345263 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32673656 11749759 PROM1 prominin 1 gene DOID:3068 glioblastoma ISO RGD:1345263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18679414|PMID:18829568|PMID:19718438 11749759 PROM1 prominin 1 gene DOID:4448 macular degeneration ISO RGD:1345263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:10205271|PMID:12657606|PMID:18654668|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:25356976|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29847639|PMID:30718709 11749759 PROM1 prominin 1 gene DOID:6171 uterine carcinosarcoma ISO RGD:1345263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21919130 11749759 PROM1 prominin 1 gene DOID:630 genetic disease ISO RGD:1345263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11749759 PROM1 prominin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1331934 D RGD:9068941 20210423 RGD mRNA:increased expression:liver (mouse) PMID:26569409|REF_RGD_ID:11344640 11749759 PROM1 prominin 1 gene DOID:8501 fundus dystrophy ISO RGD:1345263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10205271|PMID:12657606|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20554613|PMID:20859302|PMID:22025579|PMID:22183351|PMID:22581970|PMID:23105016|PMID:24154662|PMID:24265693|PMID:24547909|PMID:24763286|PMID:25356976|PMID:25472526|PMID:25474345|PMID:25741868|PMID:25999674|PMID:26103963|PMID:26153215|PMID:26261540|PMID:26872967|PMID:27208204|PMID:27874104|PMID:28041643|PMID:28095140|PMID:28492532|PMID:28559085|PMID:29555955|PMID:29847639|PMID:30029497|PMID:30576320|PMID:30578500|PMID:30588538|PMID:30718709|PMID:31129250|PMID:32581362|PMID:33546218 11749759 PROM1 prominin 1 gene DOID:9000565 Stargardt Disease 4 ISO RGD:1345263 D RGD:7240710 20180130 OMIM 11749759 PROM1 prominin 1 gene DOID:9000565 Stargardt Disease 4 ISO RGD:1345263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Stargardt Disease, Dominant | ClinVar Annotator: match by term: Stargardt disease 4 PMID:10205271|PMID:12657606|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20554613|PMID:20859302|PMID:22183351|PMID:22581970|PMID:23591405|PMID:23757202|PMID:24154662|PMID:24265693|PMID:24474277|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:26161267|PMID:26355662|PMID:27208204|PMID:28041643|PMID:28095140|PMID:28492532|PMID:28559085|PMID:29416601|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:31576780|PMID:32820593|PMID:33546218 11749759 PROM1 prominin 1 gene DOID:9002240 Retinal Macular Dystrophy 2 ISO RGD:1345263 D RGD:7240710 20180130 OMIM 11749759 PROM1 prominin 1 gene DOID:9002240 Retinal Macular Dystrophy 2 ISO RGD:1345263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal macular dystrophy type 2 PMID:10205271|PMID:12657606|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:24154662|PMID:24265693|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:26161267|PMID:26355662|PMID:28041643|PMID:28095140|PMID:28492532|PMID:28559085|PMID:29847639|PMID:30215852|PMID:30718709|PMID:32820593 11749759 PROM1 prominin 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1345263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21188121 11749759 PROM1 prominin 1 gene DOID:9004268 Uterine Neoplasms ISO RGD:1345263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21919130 11749759 PROM1 prominin 1 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1345263 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus PMID:10205271|PMID:17605048|PMID:19718270|PMID:24154662|PMID:25474345|PMID:25741868|PMID:25999674|PMID:26103963|PMID:26261540|PMID:27874104|PMID:28041643|PMID:28492532|PMID:30588538 11749759 PROM1 prominin 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1345263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29626521 11749759 PROM1 prominin 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1345263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18829568 11749759 PROM1 prominin 1 gene DOID:9351 diabetes mellitus ISO RGD:69367 D RGD:9068941 20200609 RGD PMID:11237753|REF_RGD_ID:68837 11749814 ATL1 atlastin GTPase 1 gene DOID:0070156 hereditary sensory neuropathy type 1D ISO RGD:1352093 D RGD:7240710 20180130 OMIM 11749814 ATL1 atlastin GTPase 1 gene DOID:0070156 hereditary sensory neuropathy type 1D ISO RGD:1352093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory, type 1D PMID:20862796|PMID:21194679|PMID:25741868|PMID:26467025|PMID:28492532 11749814 ATL1 atlastin GTPase 1 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1352093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant PMID:28492532 11749814 ATL1 atlastin GTPase 1 gene DOID:0110791 hereditary spastic paraplegia 3A ISO RGD:1352093 D RGD:7240710 20180130 OMIM 11749814 ATL1 atlastin GTPase 1 gene DOID:0110791 hereditary spastic paraplegia 3A ISO RGD:1352093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A PMID:11685207|PMID:12112092|PMID:12499504|PMID:12939451|PMID:14506257|PMID:14607301|PMID:14695538|PMID:15184642|PMID:15477516|PMID:15517445|PMID:15596607|PMID:15742100|PMID:16401858|PMID:16533974|PMID:16537571|PMID:16612642|PMID:17285536|PMID:17321752|PMID:17427918|PMID:17502470|PMID:17531128|PMID:17576681|PMID:17992088|PMID:19423133|PMID:19459885|PMID:19652243|PMID:19735987|PMID:19768483|PMID:20718791|PMID:20816793|PMID:20862796|PMID:20932283|PMID:20947813|PMID:21194679|PMID:21220294|PMID:21321493|PMID:21336785|PMID:21368113|PMID:2255281|PMID:22552817|PMID:22581552|PMID:23079343|PMID:23108492|PMID:23233086|PMID:23334294|PMID:23400676|PMID:23483706|PMID:23684613|PMID:23999326|PMID:24417445|PMID:24451228|PMID:24473461|PMID:24482476|PMID:24604904|PMID:24969372|PMID:25193411|PMID:25326635|PMID:25341883|PMID:25637064|PMID:25640679|PMID:25741868|PMID:25741869|PMID:25761634|PMID:26208798|PMID:26374131|PMID:26467025|PMID:26633542|PMID:26671083|PMID:26888483|PMID:27993330|PMID:28240257|PMID:28396731|PMID:28492532|PMID:28736820|PMID:29180453|PMID:29691679|PMID:29907907|PMID:29934652|PMID:29980238|PMID:30008475|PMID:30666337|PMID:30773365|PMID:30780198|PMID:31227335|PMID:31236401|PMID:31594988|PMID:31630374|PMID:31920481|PMID:32322428|PMID:32488064|PMID:32581362|PMID:32860008|PMID:32989326|PMID:34546351|PMID:34808209|PMID:4684346|PMID:8252041|PMID:9341882|PMID:9536098 11749814 ATL1 atlastin GTPase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1352093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:21194679|PMID:25741868 11749814 ATL1 atlastin GTPase 1 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1352093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:25741868 11749814 ATL1 atlastin GTPase 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1352093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:11685207|PMID:14607301|PMID:15517445|PMID:15596607|PMID:15742100|PMID:16401858|PMID:16537571|PMID:16612642|PMID:17285536|PMID:17321752|PMID:17427918|PMID:17502470|PMID:19423133|PMID:19652243|PMID:20718791|PMID:20816793|PMID:20862796|PMID:20932283|PMID:20947813|PMID:21336785|PMID:22581552|PMID:23079343|PMID:23233086|PMID:23334294|PMID:23400676|PMID:24473461|PMID:24482476|PMID:24604904|PMID:25341883|PMID:25637064|PMID:25741868|PMID:25761634|PMID:26208798|PMID:26374131|PMID:26467025|PMID:28492532|PMID:29934652|PMID:29980238|PMID:30780198|PMID:31227335|PMID:31630374|PMID:31920481|PMID:32322428|PMID:32581362|PMID:34546351|PMID:34808209|PMID:8252041 11749814 ATL1 atlastin GTPase 1 gene DOID:607 paraplegia ISO RGD:1352093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:11685207|PMID:14607301|PMID:15517445|PMID:16537571|PMID:16612642|PMID:17321752|PMID:19459885|PMID:19652243|PMID:20718791|PMID:20816793|PMID:20862796|PMID:20932283|PMID:20947813|PMID:23079343|PMID:23233086|PMID:24482476|PMID:25637064|PMID:25741868|PMID:25761634|PMID:26467025|PMID:27993330|PMID:28492532|PMID:32581362|PMID:8252041 11749814 ATL1 atlastin GTPase 1 gene DOID:630 genetic disease ISO RGD:1352093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15184642|PMID:15596607|PMID:15742100|PMID:16401858|PMID:17321752|PMID:17502470|PMID:17576681|PMID:19423133|PMID:19459885|PMID:19768483|PMID:20718791|PMID:20816793|PMID:20862796|PMID:20932283|PMID:21194679|PMID:21336785|PMID:22581552|PMID:23079343|PMID:23334294|PMID:23400676|PMID:23483706|PMID:24417445|PMID:24451228|PMID:25341883|PMID:25741868|PMID:26208798|PMID:26374131|PMID:26467025|PMID:26633542|PMID:26671083|PMID:28492532|PMID:29934652|PMID:29980238|PMID:30780198|PMID:31227335|PMID:31630374|PMID:31920481|PMID:32322428|PMID:34546351|PMID:34808209|PMID:4684346|PMID:9536098 11749814 ATL1 atlastin GTPase 1 gene DOID:9000704 Lingual Thyroids ISO RGD:1352093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lingual thyroid PMID:32989326 11749814 ATL1 atlastin GTPase 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1352093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11749832 RTN4IP1 reticulon 4 interacting protein 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1348834 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 11749832 RTN4IP1 reticulon 4 interacting protein 1 gene DOID:0111434 optic atrophy 10 ISO RGD:1348834 D RGD:7240710 20180130 OMIM 11749832 RTN4IP1 reticulon 4 interacting protein 1 gene DOID:0111434 optic atrophy 10 ISO RGD:1348834 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES | ClinVar Annotator: match by term: Optic atrophy 10 with or without ataxia, mental retardation, and seizures PMID:25741868|PMID:26593267|PMID:28492532|PMID:28638143|PMID:29181510 11749832 RTN4IP1 reticulon 4 interacting protein 1 gene DOID:0112117 combined oxidative phosphorylation deficiency 40 ISO RGD:1348834 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 40 PMID:25741868|PMID:28492532 11749832 RTN4IP1 reticulon 4 interacting protein 1 gene DOID:5723 optic atrophy ISO RGD:1348834 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868 11749832 RTN4IP1 reticulon 4 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1348834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:29181510|PMID:33841295|PMID:9536098 11749832 RTN4IP1 reticulon 4 interacting protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1348834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:33037779 11749854 C6 complement C6 gene DOID:0060299 complement component 6 deficiency ISO RGD:1352972 D RGD:7240710 20180130 OMIM 11749854 C6 complement C6 gene DOID:0060299 complement component 6 deficiency ISO RGD:1352972 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Complement component 6 deficiency PMID:10632667|PMID:12653841|PMID:16199547|PMID:17257682|PMID:17576681|PMID:22288589|PMID:22668955|PMID:23537992|PMID:24033266|PMID:24378253|PMID:25741868|PMID:28368462|PMID:28492532|PMID:31440263|PMID:32860008|PMID:7535801|PMID:8512929|PMID:8690922|PMID:8871666|PMID:9472666|PMID:9536098|PMID:9856498 11749854 C6 complement C6 gene DOID:0110245 cataract 38 ISO RGD:1352972 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cataract 38 PMID:10632667|PMID:12653841|PMID:17257682|PMID:22288589|PMID:24033266|PMID:25741868|PMID:28492532|PMID:8512929|PMID:8690922|PMID:9472666|PMID:9856498 11749854 C6 complement C6 gene DOID:182 calcinosis ISO RGD:1352972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11749854 C6 complement C6 gene DOID:2921 glomerulonephritis ISO RGD:2238 D RGD:9068941 20200609 RGD PMID:10807586|REF_RGD_ID:1600489 11749854 C6 complement C6 gene DOID:4079 heart valve disease ISO RGD:1352972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11749854 C6 complement C6 gene DOID:576 proteinuria ISO RGD:2238 D RGD:9068941 20200609 RGD associated with Glomerulonephritis PMID:2672823|REF_RGD_ID:1600682 11749854 C6 complement C6 gene DOID:626 complement deficiency ISO RGD:1352972 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency due to a late component of complement deficiency PMID:10632667|PMID:12653841|PMID:17257682|PMID:22288589|PMID:24033266|PMID:25741868|PMID:28492532|PMID:8512929|PMID:8690922|PMID:9472666|PMID:9856498 11749854 C6 complement C6 gene DOID:630 genetic disease ISO RGD:1352972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11749854 C6 complement C6 gene DOID:783 end stage renal disease severity ISO RGD:2238 D RGD:9068941 20200609 RGD PMID:11912252|REF_RGD_ID:1600675 11749854 C6 complement C6 gene DOID:9001285 Alcoholic Liver Diseases resistance ISO RGD:2238 D RGD:9068941 20200609 RGD PMID:15351314|REF_RGD_ID:1600673 11749854 C6 complement C6 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis severity ISO RGD:2238 D RGD:9068941 20200609 RGD PMID:11970970|REF_RGD_ID:625607 11749854 C6 complement C6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11749854 C6 complement C6 gene DOID:9004484 Sepsis severity ISO RGD:2238 D RGD:9068941 20200609 RGD PMID:15638131|REF_RGD_ID:1600672 11749854 C6 complement C6 gene DOID:9006362 C6 Deficiency, Subtotal ISO RGD:1352972 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: C6 deficiency, subtotal PMID:16199547|PMID:17257682|PMID:24378253|PMID:25741868|PMID:28492532|PMID:7535801|PMID:8871666 11749854 C6 complement C6 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis susceptibility ISO RGD:2238 D RGD:9068941 20200609 RGD PMID:17034580|REF_RGD_ID:1600670 11749887 MRPL22 mitochondrial ribosomal protein L22 gene DOID:630 genetic disease ISO RGD:1319534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11749901 PRR16 proline rich 16 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602486 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11749901 PRR16 proline rich 16 gene DOID:630 genetic disease ISO RGD:1602486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11749901 PRR16 proline rich 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11749901 PRR16 proline rich 16 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602486 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11749937 IL17B interleukin 17B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1352071 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11749937 IL17B interleukin 17B gene DOID:630 genetic disease ISO RGD:1352071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11749937 IL17B interleukin 17B gene DOID:9003318 Keratoconus 1 ISO RGD:1352071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 1 11749937 IL17B interleukin 17B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11749937 IL17B interleukin 17B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352071 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11749944 CAB39 calcium binding protein 39 gene DOID:0060476 Perlman syndrome ISO RGD:1314979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11749944 CAB39 calcium binding protein 39 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1314979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11749944 CAB39 calcium binding protein 39 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1314979 D RGD:9068941 20200609 RGD PMID:28197410|REF_RGD_ID:14398834 11749944 CAB39 calcium binding protein 39 gene DOID:224 transient cerebral ischemia ISO RGD:1306390 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:27798271|REF_RGD_ID:14398833 11749944 CAB39 calcium binding protein 39 gene DOID:684 hepatocellular carcinoma ISO RGD:1314979 D RGD:9068941 20200609 RGD PMID:28605041|REF_RGD_ID:14398832 11749944 CAB39 calcium binding protein 39 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1314979 D RGD:9068941 20200609 RGD PMID:28605041|REF_RGD_ID:14398832 11749944 CAB39 calcium binding protein 39 gene DOID:7998 hyperthyroidism ISO RGD:1306390 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:muscle: PMID:18669938|REF_RGD_ID:10059691 11749944 CAB39 calcium binding protein 39 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1314979 D RGD:9068941 20200609 RGD associated with pancreatic cancer;RNA:increased expression:pancreas PMID:28197410|REF_RGD_ID:14398834 11749944 CAB39 calcium binding protein 39 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1314979 D RGD:9068941 20200609 RGD associated with hepatocellular carcinoma; PMID:28605041|REF_RGD_ID:14398832 11749989 TMEM63C transmembrane protein 63C gene DOID:1059 intellectual disability ISO RGD:1320973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11749989 TMEM63C transmembrane protein 63C gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1320973 D RGD:9068941 20210820 RGD protein:decreased expression:kidney,renal glomerulus (human) PMID:30900988|REF_RGD_ID:15023481 11749989 TMEM63C transmembrane protein 63C gene DOID:630 genetic disease ISO RGD:1320973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11749989 TMEM63C transmembrane protein 63C gene DOID:9001542 Albuminuria ISO RGD:1310207 D RGD:9068941 20210820 RGD mRNA:increased expression:kidney,renal glomerulus (rat) PMID:30900988|REF_RGD_ID:15023481 11749989 TMEM63C transmembrane protein 63C gene DOID:9003756 Spastic Paraplegia 87, Autosomal Recessive ISO RGD:1320973 D RGD:7240710 20220810 OMIM 11749989 TMEM63C transmembrane protein 63C gene DOID:9003756 Spastic Paraplegia 87, Autosomal Recessive ISO RGD:1320973 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 87, autosomal recessive PMID:35718349 11750018 NPFF neuropeptide FF-amide peptide precursor gene DOID:630 genetic disease ISO RGD:736374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11750018 NPFF neuropeptide FF-amide peptide precursor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11750018 NPFF neuropeptide FF-amide peptide precursor gene DOID:9005372 Inflammation ISO RGD:62033 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord, neuron PMID:10220558|REF_RGD_ID:61673 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:0050746 mantle cell lymphoma ISO RGD:1603171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mantle cell lymphoma PMID:10706620 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:0050753 cerebellar ataxia ISO RGD:1603171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:29909963|PMID:9887333 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:0081042 T-cell prolymphocytic leukemia ISO RGD:1603171 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: T-cell prolymphocytic leukemia PMID:10817650|PMID:11382771|PMID:11805335|PMID:11830610|PMID:12195425|PMID:12552559|PMID:16958054|PMID:17001622|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19781682|PMID:20301790|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22529920|PMID:22585167|PMID:22649200|PMID:24088041|PMID:24733792|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26506520|PMID:26556299|PMID:26633545|PMID:26662178|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29719442|PMID:29915382|PMID:30549301|PMID:31447099|PMID:31948886|PMID:32338768|PMID:32853339|PMID:33509806|PMID:6504056|PMID:7792600|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9537233 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:10534 stomach cancer ISO RGD:1603171 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:10330348|PMID:10397742|PMID:10416970|PMID:10706620|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11756177|PMID:12149228|PMID:12552559|PMID:12552566|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:15039971|PMID:15101044|PMID:15390180|PMID:16199547|PMID:16266405|PMID:16941484|PMID:17124347|PMID:17376192|PMID:17576681|PMID:17910737|PMID:17968022|PMID:18560558|PMID:18573109|PMID:18634022|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19691550|PMID:20153123|PMID:20301790|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21792198|PMID:21933854|PMID:22017321|PMID:22071889|PMID:22529920|PMID:22585167|PMID:22649200|PMID:23454770|PMID:23585524|PMID:23632773|PMID:23807571|PMID:25122203|PMID:25186627|PMID:25525159|PMID:25614872|PMID:25741868|PMID:26022348|PMID:26094658|PMID:26467025|PMID:26506520|PMID:26628246|PMID:26677768|PMID:26681312|PMID:27121310|PMID:27159176|PMID:27732944|PMID:27884168|PMID:27913932|PMID:28139868|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28724667|PMID:28767289|PMID:29482223|PMID:29600275|PMID:29665859|PMID:29667044|PMID:29752822|PMID:29906526|PMID:29909963|PMID:29922827|PMID:29946849|PMID:30093976|PMID:30287823|PMID:30549301|PMID:30607632|PMID:30620386|PMID:31050087|PMID:31118792|PMID:31139954|PMID:31263571|PMID:31691010|PMID:31784493|PMID:32002120|PMID:32068069|PMID:32471518|PMID:32694154|PMID:32754152|PMID:32810930|PMID:32918381|PMID:33280026|PMID:33436325|PMID:33471991|PMID:34873480|PMID:36988593|PMID:8698354|PMID:8755918|PMID:8808599|PMID:8845835|PMID:9334731|PMID:9443866|PMID:9488043|PMID:9536098|PMID:9872980|PMID:9887333 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:1059 intellectual disability ISO RGD:1603171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:26628246|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28188106|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34606182|PMID:34646395|PMID:34653963|PMID:35039564|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:9872980|PMID:9887333|PMID:9892178 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25232094|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:26628246|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25232094|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:26628246|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25793145|PMID:25877891|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28687356|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29141312|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31403082|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35186721|PMID:35201558|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25793145|PMID:25877891|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28687356|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29141312|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31403082|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35806449|PMID:35892882|PMID:35893033|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:14723 beta-ketothiolase deficiency ISO RGD:1603171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:28492532 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:1520 colon carcinoma ISO RGD:1603171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:17910737|PMID:19404735|PMID:20305132|PMID:25186627|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26901136|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28717660|PMID:28779002|PMID:29659569|PMID:30256826|PMID:30303537|PMID:30613976|PMID:31159747|PMID:31742824|PMID:32522261|PMID:33471991|PMID:34262154|PMID:34646395 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:1612 breast cancer ISO RGD:1603171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14627829|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25326637|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26506520|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27443514|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27978560|PMID:27988859|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28188106|PMID:28338653|PMID:28492532|PMID:28608266|PMID:28652578|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29415044|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30128536|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30814645|PMID:31050087|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31341520|PMID:31407689|PMID:31882575|PMID:31920950|PMID:31921681|PMID:32039725|PMID:32125938|PMID:32183364|PMID:32566746|PMID:32601921|PMID:32832836|PMID:32860008|PMID:32906206|PMID:33095795|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33558524|PMID:33747920|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9792409|PMID:9887333 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:1612 breast cancer ISO RGD:1603171 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14627829|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27443514|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28608266|PMID:28652578|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29415044|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30128536|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30814645|PMID:31050087|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32832836|PMID:32853339|PMID:32860008|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33558524|PMID:33747920|PMID:33919281|PMID:34067464|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9887333 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:1612 breast cancer ISO RGD:1603171 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10330348|PMID:10397742|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14627829|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21445571|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27443514|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28608266|PMID:28652578|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29415044|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30772474|PMID:30814645|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:1612 breast cancer ISO RGD:1603171 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:35039564|PMID:35264596|PMID:35365198|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9872980|PMID:9887333 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:1781 thyroid gland cancer ISO RGD:1603171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid cancer PMID:28492532 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:2394 ovarian cancer ISO RGD:1603171 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer PMID:10330348|PMID:11756185|PMID:12552559|PMID:17576681|PMID:21933854|PMID:22585167|PMID:23807571|PMID:25032865|PMID:25326635|PMID:25503501|PMID:25614872|PMID:25741868|PMID:26094658|PMID:26270727|PMID:26467025|PMID:26681312|PMID:28007021|PMID:28008555|PMID:28492532|PMID:30322717|PMID:30549301|PMID:31050087|PMID:8659541|PMID:9463314|PMID:9536098|PMID:9872980 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:2394 ovarian cancer ISO RGD:1603171 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:10330348|PMID:10817650|PMID:10873394|PMID:11756185|PMID:12552559|PMID:12935922|PMID:14706517|PMID:15756685|PMID:18634022|PMID:19781682|PMID:20305132|PMID:21665257|PMID:21933854|PMID:21993670|PMID:22585167|PMID:23807571|PMID:24728327|PMID:25326635|PMID:25503501|PMID:25614872|PMID:25741868|PMID:26094658|PMID:26270727|PMID:26467025|PMID:26530882|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26976419|PMID:28007021|PMID:28008555|PMID:28135145|PMID:28492532|PMID:28580595|PMID:28652578|PMID:28726808|PMID:28779002|PMID:29522266|PMID:29641532|PMID:29684080|PMID:30093976|PMID:30303537|PMID:30322717|PMID:30374176|PMID:30549301|PMID:31050087|PMID:31159747|PMID:31248605|PMID:31742824|PMID:31780696|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32107087|PMID:32936981|PMID:33471991|PMID:33552952|PMID:35245693|PMID:35264596|PMID:8659541|PMID:9443866|PMID:9463314|PMID:9872980 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:2871 endometrial carcinoma ISO RGD:1603171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:12810666|PMID:19781682|PMID:21787400|PMID:23555315|PMID:25741868|PMID:25980754|PMID:26787654|PMID:26837699|PMID:28492532|PMID:29659569|PMID:30651582|PMID:31159747|PMID:31920950|PMID:33436325|PMID:33558524 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:299 adenocarcinoma ISO RGD:1603171 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma PMID:10330348|PMID:10817650|PMID:10980530|PMID:12810666|PMID:15390180|PMID:16266405|PMID:17576681|PMID:20153123|PMID:22585167|PMID:25614872|PMID:25741868|PMID:26506520|PMID:27159176|PMID:28492532|PMID:36988593|PMID:9536098|PMID:9887333 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:3068 glioblastoma ISO RGD:1603171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:19781682|PMID:23322442|PMID:25525159|PMID:25741868|PMID:26467025|PMID:9054948 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:3070 high grade glioma ISO RGD:1603171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant glioma PMID:10330348|PMID:10817650|PMID:10980530|PMID:11298136|PMID:21445571|PMID:21459046|PMID:21792198|PMID:25741868|PMID:26681312|PMID:28492532|PMID:29478780|PMID:30549301|PMID:33471991|PMID:8659541|PMID:8808599|PMID:9000145|PMID:9463314 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:3459 breast carcinoma ISO RGD:1603171 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Multifocal breast carcinoma PMID:10330348|PMID:10817650|PMID:10980530|PMID:11805335|PMID:12810666|PMID:15279808|PMID:15390180|PMID:16014569|PMID:16266405|PMID:16864838|PMID:17344846|PMID:17576681|PMID:18634022|PMID:19431188|PMID:19535770|PMID:19605768|PMID:20153123|PMID:21354641|PMID:21778326|PMID:21792198|PMID:21933854|PMID:21965147|PMID:22146522|PMID:22213089|PMID:22585167|PMID:25122203|PMID:25479140|PMID:2557216|PMID:25572163|PMID:25614872|PMID:25741868|PMID:25957637|PMID:25980754|PMID:26467025|PMID:26506520|PMID:26681312|PMID:26787654|PMID:26837699|PMID:26976419|PMID:27159176|PMID:28120234|PMID:28126470|PMID:28492532|PMID:28652578|PMID:28726808|PMID:28779002|PMID:28843361|PMID:29478780|PMID:29909963|PMID:30303537|PMID:30322717|PMID:30549301|PMID:30579816|PMID:30819809|PMID:31050087|PMID:31159747|PMID:31741144|PMID:32658311|PMID:32854451|PMID:32957588|PMID:36988593|PMID:9536098|PMID:9622061|PMID:9887333 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1603171 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Papillary thyroid carcinoma PMID:19404735|PMID:20305132|PMID:25186627|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26901136|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28717660|PMID:28779002|PMID:29659569|PMID:30256826|PMID:30303537|PMID:30613976|PMID:31159747|PMID:31742824|PMID:32522261|PMID:33471991|PMID:34262154|PMID:34646395 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:4450 renal cell carcinoma ISO RGD:1603171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:10571946 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1603171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:10980530|PMID:18560558|PMID:19431188|PMID:19691550|PMID:19779456|PMID:25186627|PMID:25741868|PMID:26628246|PMID:28492532|PMID:29522266|PMID:33747920|PMID:8755918|PMID:9792409 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:4905 pancreatic carcinoma ISO RGD:1603171 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:10330348|PMID:10817650|PMID:10980530|PMID:12497634|PMID:12673797|PMID:12810666|PMID:14586414|PMID:14970866|PMID:15101044|PMID:15390180|PMID:16266405|PMID:17576681|PMID:1849795|PMID:18497957|PMID:20153123|PMID:21833744|PMID:22585167|PMID:23454770|PMID:23807571|PMID:24556621|PMID:25614872|PMID:25741868|PMID:26483394|PMID:26506520|PMID:26822949|PMID:27159176|PMID:28492532|PMID:32295079|PMID:3338800|PMID:36988593|PMID:8808599|PMID:9443866|PMID:9536098|PMID:9887333 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10464642|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24451234|PMID:24556621|PMID:24728327|PMID:25040471|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29678143|PMID:29684080|PMID:29909963|PMID:30067863|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30851086|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31447099|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32853339|PMID:33095795|PMID:33134171|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33471991|PMID:33630411|PMID:33747920|PMID:33850299|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10464642|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25040471|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29678143|PMID:29684080|PMID:29909963|PMID:30067863|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30851086|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31447099|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32853339|PMID:33095795|PMID:33134171|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10464642|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25040471|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30851086|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31447099|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32853339|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10464642|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25040471|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30851086|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31447099|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32853339|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25040471|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30851086|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31447099|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32853339|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29909963|PMID:29915322|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31285527|PMID:31447099|PMID:31742824|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31285527|PMID:31447099|PMID:31742824|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34299313|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:24733792|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27528516|PMID:27595995|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31447099|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34299313|PMID:34646395|PMID:35039564|PMID:35245693|PMID:35264596|PMID:35892882|PMID:35893033|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9887333 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:630 genetic disease ISO RGD:1603171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:687 hepatoblastoma ISO RGD:1603171 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:21665257|PMID:25186627|PMID:25741868|PMID:26787654|PMID:28492532|PMID:29522266|PMID:33471991 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:9002928 Colonic Neoplasms ISO RGD:1603171 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colonic neoplasm PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:30482293|PMID:32658311 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1603171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma PMID:28492532 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:9005628 Ataxia-Telangiectasia Variant ISO RGD:1603171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ataxia - telangiectasia variant PMID:10330348|PMID:11382771|PMID:11826028|PMID:11830610|PMID:14654357|PMID:15174027|PMID:16958054|PMID:17001622|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19781682|PMID:19823873|PMID:20301790|PMID:21787400|PMID:21792198|PMID:22345219|PMID:22529920|PMID:22585167|PMID:23143971|PMID:24088041|PMID:24733792|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25186627|PMID:25741868|PMID:25914063|PMID:25980754|PMID:26506520|PMID:26633545|PMID:26662178|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27884168|PMID:27978560|PMID:27988859|PMID:28008555|PMID:28492532|PMID:28779002|PMID:29719442|PMID:29915382|PMID:30504431|PMID:30549301|PMID:33509806|PMID:8755918|PMID:8808599|PMID:9000145|PMID:9288106|PMID:9463314|PMID:9792410|PMID:9887333 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1603171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:10571946 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22895193|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24451234|PMID:24506781|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25232094|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28188106|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32107087|PMID:32125938|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33134171|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33747920|PMID:33850299|PMID:34299313|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22895193|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25232094|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22895193|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25232094|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34299313|PMID:34350294|PMID:34359559 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:34371384|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35201558|PMID:35260754|PMID:35309086|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250417|PMID:34262154|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35806449|PMID:35892882|PMID:35893033|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:9008939 Breast Neoplasms ISO RGD:1603171 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:10817650|PMID:11382771|PMID:11805335|PMID:11830610|PMID:12195425|PMID:12552559|PMID:16958054|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19781682|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22529920|PMID:22649200|PMID:24088041|PMID:24733792|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26506520|PMID:26556299|PMID:26633545|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29719442|PMID:29915382|PMID:30549301|PMID:31447099|PMID:31948886|PMID:32338768|PMID:32853339|PMID:6504056|PMID:7792600|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9537233 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:9008939 Breast Neoplasms ISO RGD:1603171 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:10817650|PMID:11382771|PMID:11805335|PMID:11830610|PMID:12195425|PMID:12552559|PMID:16958054|PMID:17001622|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19781682|PMID:20301790|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22529920|PMID:22585167|PMID:22649200|PMID:24088041|PMID:24733792|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26506520|PMID:26556299|PMID:26633545|PMID:26662178|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29719442|PMID:29915382|PMID:30549301|PMID:31447099|PMID:31948886|PMID:32338768|PMID:32853339|PMID:33509806|PMID:6504056|PMID:7792600|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9537233 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:9008952 Breast Cancer, Familial ISO RGD:1603171 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:10023947|PMID:10330348|PMID:10416970|PMID:10571946|PMID:10706620|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11897822|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12673797|PMID:12673804|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12935922|PMID:12969974|PMID:14586414|PMID:14627829|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16603769|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17393301|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18321536|PMID:18384426|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20153123|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:20966255|PMID:21150274|PMID:21354641|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22927201|PMID:22952040|PMID:23091097|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23774824|PMID:23807571|PMID:23946315|PMID:24088041|PMID:24172824|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24853695|PMID:24920063|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25122203|PMID:25148578|PMID:25151137|PMID:25186627|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25957637|PMID:25980754|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27097373|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28093616|PMID:28120234|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28338653|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29371908|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29909963 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:9008952 Breast Cancer, Familial ISO RGD:1603171 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29954938|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30441849|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30723761|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30883245|PMID:30927251|PMID:31050087|PMID:31054420|PMID:31097817|PMID:31125277|PMID:31130284|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31617914|PMID:31691010|PMID:31741144|PMID:31742824|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31948886|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32107087|PMID:32125938|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32522261|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32756499|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33608381|PMID:33630411|PMID:33747920|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34761457|PMID:35039564|PMID:35245693|PMID:35264596|PMID:35365198|PMID:35402282|PMID:35806449|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9150358|PMID:9244351|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:9256 colorectal cancer ISO RGD:1603171 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:10330348|PMID:10817650|PMID:10980530|PMID:12646636|PMID:15039971|PMID:16266405|PMID:21665257|PMID:21833744|PMID:25374739|PMID:25614872|PMID:25741868|PMID:26681312|PMID:27433846|PMID:28492532|PMID:29360161|PMID:30067863|PMID:31159747|PMID:32295079|PMID:9443866|PMID:9887333 11750027 C11H11orf65 chromosome 11 C11orf65 homolog gene DOID:9460 uterine corpus cancer ISO RGD:1603171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:11805335|PMID:15279808|PMID:16864838|PMID:19535770|PMID:19605768|PMID:21354641|PMID:21778326|PMID:21792198|PMID:21965147|PMID:22146522|PMID:22213089|PMID:25122203|PMID:2557216|PMID:25572163|PMID:25741868|PMID:25957637|PMID:25980754|PMID:26467025|PMID:26681312|PMID:26976419|PMID:28126470|PMID:28492532|PMID:28843361|PMID:29478780|PMID:29909963|PMID:30322717|PMID:30549301|PMID:30579816|PMID:30819809|PMID:31050087|PMID:32854451 11750053 L1TD1 LINE1 type transposase domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1603640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11750053 L1TD1 LINE1 type transposase domain containing 1 gene DOID:630 genetic disease ISO RGD:1603640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11750071 LOC100985404 sialic acid-binding Ig-like lectin 14 gene DOID:630 genetic disease ISO RGD:1625453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11750092 DNAAF3 dynein axonemal assembly factor 3 gene DOID:0050144 Kartagener syndrome ISO RGD:1602406 D RGD:9068941 20221013 CTD CTD Direct Evidence: marker/mechanism PMID:22387996 11750092 DNAAF3 dynein axonemal assembly factor 3 gene DOID:0050144 Kartagener syndrome ISO RGD:1619616 D RGD:9068941 20221013 MouseDO 11750092 DNAAF3 dynein axonemal assembly factor 3 gene DOID:0050545 visceral heterotaxy ISO RGD:1619616 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 11750092 DNAAF3 dynein axonemal assembly factor 3 gene DOID:0050700 cardiomyopathy ISO RGD:1602406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532 11750092 DNAAF3 dynein axonemal assembly factor 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1602406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 11750092 DNAAF3 dynein axonemal assembly factor 3 gene DOID:0110313 hypertrophic cardiomyopathy 7 ISO RGD:1602406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7 PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532 11750092 DNAAF3 dynein axonemal assembly factor 3 gene DOID:0110460 dilated cardiomyopathy 2A ISO RGD:1602406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 2A PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532 11750092 DNAAF3 dynein axonemal assembly factor 3 gene DOID:0110626 primary ciliary dyskinesia 2 ISO RGD:1602406 D RGD:7240710 20180130 OMIM 11750092 DNAAF3 dynein axonemal assembly factor 3 gene DOID:0110626 primary ciliary dyskinesia 2 ISO RGD:1602406 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 2 PMID:10745040|PMID:22387996|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31213628|PMID:34401452 11750092 DNAAF3 dynein axonemal assembly factor 3 gene DOID:0110936 nemaline myopathy 5 ISO RGD:1602406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5 PMID:28492532 11750092 DNAAF3 dynein axonemal assembly factor 3 gene DOID:0111425 restrictive cardiomyopathy 1 ISO RGD:1602406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532 11750092 DNAAF3 dynein axonemal assembly factor 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1602406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532 11750092 DNAAF3 dynein axonemal assembly factor 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1602406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532 11750092 DNAAF3 dynein axonemal assembly factor 3 gene DOID:3191 nemaline myopathy ISO RGD:1602406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Recessive PMID:24033266|PMID:25741868|PMID:28492532 11750092 DNAAF3 dynein axonemal assembly factor 3 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1602406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532 11750092 DNAAF3 dynein axonemal assembly factor 3 gene DOID:397 restrictive cardiomyopathy ISO RGD:1602406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 11750092 DNAAF3 dynein axonemal assembly factor 3 gene DOID:630 genetic disease ISO RGD:1602406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11750092 DNAAF3 dynein axonemal assembly factor 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1602406 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:10745040|PMID:16199547|PMID:17576681|PMID:22387996|PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30067075|PMID:31213628|PMID:31772028|PMID:31879361|PMID:34401452|PMID:9536098 11750133 FSCN3 fascin actin-bundling protein 3 gene DOID:10892 hypospadias ISO RGD:1353847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypospadias PMID:25741868 11750133 FSCN3 fascin actin-bundling protein 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11750133 FSCN3 fascin actin-bundling protein 3 gene DOID:630 genetic disease ISO RGD:1353847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11750152 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:0060236 xanthinuria ISO RGD:737503 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: XDH deficiency 11750152 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:0090065 familial cold autoinflammatory syndrome 4 ISO RGD:737503 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 PMID:28492532 11750152 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:737503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:28492532 11750152 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:10283 prostate cancer ISO RGD:737503 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland PMID:12949937|REF_RGD_ID:2302560 11750152 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:10283 prostate cancer susceptibility ISO RGD:737503 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.A49T (human) PMID:10501358|REF_RGD_ID:4891929 11750152 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:10892 hypospadias susceptibility ISO RGD:737503 D RGD:9068941 20200609 RGD protein:missense mutations:cds:p.R227Q, p.F186L (human) PMID:10514539|REF_RGD_ID:1600059 11750152 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:11132 prostatic hypertrophy ISO RGD:737503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20823678 11750152 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:12700 hyperprolactinemia ISO RGD:621480 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate (rat) PMID:18379994|REF_RGD_ID:4891877 11750152 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:1924 hypogonadism ISO RGD:737503 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypergonadotropic hypogonadism PMID:25741868|PMID:28492532 11750152 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:289 endometriosis ISO RGD:737503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21232532 11750152 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:3459 breast carcinoma ISO RGD:737503 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:15212687|REF_RGD_ID:2302558 11750152 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:630 genetic disease ISO RGD:737503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11750152 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:9001561 Pseudovaginal Perineoscrotal Hypospadias ISO RGD:737503 D RGD:7240710 20180130 OMIM 11750152 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:9001561 Pseudovaginal Perineoscrotal Hypospadias ISO RGD:737503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | ClinVar Annotator: match by term: Familial incomplete male pseudohermaphroditism, type 2 PMID:10501358|PMID:10718838|PMID:10898110|PMID:10999800|PMID:11869378|PMID:12576851|PMID:12699446|PMID:12843198|PMID:1406794|PMID:14560315|PMID:14594182|PMID:15064320|PMID:1522235|PMID:15266301|PMID:15528927|PMID:15770495|PMID:18097518|PMID:18314109|PMID:18384427|PMID:18391525|PMID:18469342|PMID:18717241|PMID:19342739|PMID:1944596|PMID:19492581|PMID:20019388|PMID:20190539|PMID:20493473|PMID:20583543|PMID:20736251|PMID:21147889|PMID:21402750|PMID:2154055|PMID:21540559|PMID:21631525|PMID:22272144|PMID:22453073|PMID:22876553|PMID:23329752|PMID:24665940|PMID:24737579|PMID:25248670|PMID:25605705|PMID:25741868|PMID:25899528|PMID:26446026|PMID:2665940|PMID:26980298|PMID:27070133|PMID:27854360|PMID:27899157|PMID:28110336|PMID:28492532|PMID:28544750|PMID:28663096|PMID:30132287|PMID:31186340|PMID:32346305|PMID:32371413|PMID:32713132|PMID:33516834|PMID:33742552|PMID:431680|PMID:7554313|PMID:7608269|PMID:8110760|PMID:8262007|PMID:835597|PMID:8626825|PMID:8706317|PMID:8723114|PMID:8768837|PMID:9066886|PMID:9135696|PMID:9208814|PMID:9467575|PMID:9745434|PMID:9843052 11750152 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16998812|PMID:17136762|PMID:17823934|PMID:18306354|PMID:18500220 11750152 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:9003503 Penis Agenesis ISO RGD:737503 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Micropenis PMID:10898110|PMID:12843198|PMID:14594182|PMID:15064320|PMID:19342739|PMID:20736251|PMID:22453073|PMID:25605705|PMID:25741868|PMID:25899528|PMID:28492532|PMID:32713132 11750152 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:9004466 Xanthinuria, Type II ISO RGD:737503 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Xanthinuria type II PMID:18384427|PMID:28492532 11750152 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:737503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23200943 11750152 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:9008410 Autoinflammation with Infantile Enterocolitis ISO RGD:737503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis PMID:28492532 11750152 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:9351 diabetes mellitus ISO RGD:621480 D RGD:9068941 20200609 RGD PMID:12749121|REF_RGD_ID:1600067 11750152 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:987 alopecia ISO RGD:737503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17136762 11750161 C14H14orf132 chromosome 14 C14orf132 homolog gene DOID:2224 essential thrombocythemia ISO RGD:1350098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 11750161 C14H14orf132 chromosome 14 C14orf132 homolog gene DOID:4971 myelofibrosis ISO RGD:1350098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis 11750161 C14H14orf132 chromosome 14 C14orf132 homolog gene DOID:9119 acute myeloid leukemia ISO RGD:1350098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 11750171 HECTD2 HECT domain E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:1313620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11750196 GALK1 galactokinase 1 gene DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ISO RGD:1313365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia PMID:10484780|PMID:11328943|PMID:11886501|PMID:12485428|PMID:18955862|PMID:20301304|PMID:23496044|PMID:25741868|PMID:28492532|PMID:9792864|PMID:9892956 11750196 GALK1 galactokinase 1 gene DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ISO RGD:1313365 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia PMID:10484780|PMID:11328943|PMID:11886501|PMID:12485428|PMID:17576681|PMID:18955862|PMID:20301304|PMID:23496044|PMID:25741868|PMID:28492532|PMID:9536098|PMID:9792864|PMID:9892956 11750196 GALK1 galactokinase 1 gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISO RGD:1313365 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type PMID:25741868|PMID:28492532 11750196 GALK1 galactokinase 1 gene DOID:0080600 COVID-19 ISO RGD:1313365 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11750196 GALK1 galactokinase 1 gene DOID:14695 galactokinase deficiency ISO RGD:1313365 D RGD:7240710 20180130 OMIM 11750196 GALK1 galactokinase 1 gene DOID:14695 galactokinase deficiency ISO RGD:1313365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deficiency of galactokinase PMID:10521295|PMID:10570908|PMID:10790206|PMID:11139256|PMID:11231902|PMID:11978883|PMID:11978884|PMID:12647253|PMID:12694189|PMID:12796487|PMID:12942049|PMID:14596685|PMID:15024738|PMID:15322984|PMID:15590630|PMID:16199547|PMID:17517531|PMID:17576681|PMID:19309526|PMID:20405025|PMID:21264483|PMID:21290184|PMID:22632133|PMID:25741868|PMID:27307692|PMID:27334249|PMID:28173647|PMID:28418495|PMID:28429145|PMID:28468868|PMID:28492532|PMID:28672748|PMID:29505688|PMID:29770612|PMID:29893426|PMID:32807972|PMID:33562227|PMID:33763395|PMID:7670469|PMID:9536098 11750196 GALK1 galactokinase 1 gene DOID:630 genetic disease ISO RGD:1313365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11750196 GALK1 galactokinase 1 gene DOID:83 cataract ISO RGD:1313365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7670469 11750196 GALK1 galactokinase 1 gene DOID:83 cataract ISO RGD:1313365 D RGD:9068941 20200609 RGD DNA:missense mutation, nonsense mutation:cds:p.V32M, p.E80X (human) PMID:7670469|REF_RGD_ID:1300192 11750196 GALK1 galactokinase 1 gene DOID:9002684 Localized Epidermolysis Bullosa Simplex 1C ISO RGD:1313365 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized PMID:25741868|PMID:28492532 11750196 GALK1 galactokinase 1 gene DOID:9003431 Junctional Epidermolysis Bullosa 5A, Intermediate ISO RGD:1313365 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 5A, intermediate PMID:12485428|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|PMID:9546354|PMID:9892956 11750196 GALK1 galactokinase 1 gene DOID:9870 galactosemia ISO RGD:1313365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7670469 11750209 TSTD3 thiosulfate sulfurtransferase like domain containing 3 gene DOID:0081169 Leber congenital amaurosis 19 ISO RGD:6769372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 19 PMID:25741868|PMID:30573563 11750209 TSTD3 thiosulfate sulfurtransferase like domain containing 3 gene DOID:630 genetic disease ISO RGD:6769372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11750209 TSTD3 thiosulfate sulfurtransferase like domain containing 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:6769372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11750209 TSTD3 thiosulfate sulfurtransferase like domain containing 3 gene DOID:9007661 Dwarfism ISO RGD:6769372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11750219 AMT aminomethyltransferase gene DOID:0060852 Pierson syndrome ISO RGD:1343884 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 11750219 AMT aminomethyltransferase gene DOID:1826 epilepsy ISO RGD:1343884 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11750219 AMT aminomethyltransferase gene DOID:630 genetic disease ISO RGD:1343884 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12948742|PMID:23352163|PMID:25741868|PMID:26179960|PMID:27362913|PMID:27620832|PMID:27884173|PMID:28492532|PMID:8005589|PMID:9580775 11750219 AMT aminomethyltransferase gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1343884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11750219 AMT aminomethyltransferase gene DOID:9002802 Acidoses ISO RGD:1359408 D RGD:9068941 20200609 RGD PMID:3877504|REF_RGD_ID:1599107 11750219 AMT aminomethyltransferase gene DOID:9003907 Aicardi-Goutieres Syndrome 2 ISO RGD:1343884 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 PMID:25741868|PMID:28492532 11750219 AMT aminomethyltransferase gene DOID:9268 glycine encephalopathy ISO RGD:1343884 D RGD:7240710 20180130 OMIM 11750219 AMT aminomethyltransferase gene DOID:9268 glycine encephalopathy ISO RGD:1343884 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:10873393|PMID:11139253|PMID:11286506|PMID:12948742|PMID:15272469|PMID:16051266|PMID:16199547|PMID:16450403|PMID:17576681|PMID:19299230|PMID:20301531|PMID:20949620|PMID:21520333|PMID:22171071|PMID:22261077|PMID:22532538|PMID:23352163|PMID:24033266|PMID:25231368|PMID:25640679|PMID:25741868|PMID:26179960|PMID:26371980|PMID:26467025|PMID:27164344|PMID:27362913|PMID:27620832|PMID:27884173|PMID:28244183|PMID:28462797|PMID:28492532|PMID:29300369|PMID:30105116|PMID:31319225|PMID:33726816|PMID:4434100|PMID:6179960|PMID:8005589|PMID:9536098|PMID:9580775|PMID:9600239|PMID:9621520 11750219 AMT aminomethyltransferase gene DOID:9268 glycine encephalopathy susceptibility ISO RGD:1343884 D RGD:9068941 20200609 RGD PMID:8005589|REF_RGD_ID:1599106 11750236 AGMO alkylglycerol monooxygenase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11750236 AGMO alkylglycerol monooxygenase gene DOID:630 genetic disease ISO RGD:1606863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11750253 PRRT4 proline rich transmembrane protein 4 gene DOID:0080600 COVID-19 ISO RGD:3051273 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11750253 PRRT4 proline rich transmembrane protein 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:3051273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11750253 PRRT4 proline rich transmembrane protein 4 gene DOID:630 genetic disease ISO RGD:3051273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11750261 SDSL serine dehydratase like gene DOID:630 genetic disease ISO RGD:1319395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11750276 GAS1 growth arrest specific 1 gene DOID:0110881 holoprosencephaly 1 ISO RGD:1345993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 1 PMID:20583177|PMID:21842183 11750276 GAS1 growth arrest specific 1 gene DOID:4621 holoprosencephaly ISO RGD:1345993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17525797 11750276 GAS1 growth arrest specific 1 gene DOID:630 genetic disease ISO RGD:1345993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11750299 DIS3L2 DIS3 like 3'-5' exoribonuclease 2 gene DOID:0060476 Perlman syndrome ISO RGD:1604754 D RGD:7240710 20180130 OMIM 11750299 DIS3L2 DIS3 like 3'-5' exoribonuclease 2 gene DOID:0060476 Perlman syndrome ISO RGD:1604754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:10508986|PMID:16199547|PMID:16957732|PMID:17576681|PMID:22306653|PMID:23486540|PMID:23576526|PMID:23594738|PMID:23613427|PMID:23756462|PMID:24141620|PMID:25640679|PMID:25670083|PMID:25741868|PMID:25741875|PMID:26689913|PMID:27153395|PMID:27431325|PMID:28328139|PMID:28492532|PMID:29625052|PMID:30344923|PMID:30359267|PMID:31350202|PMID:31942411|PMID:33332384|PMID:33719213|PMID:34130653|PMID:6093533|PMID:9536098 11750299 DIS3L2 DIS3 like 3'-5' exoribonuclease 2 gene DOID:0080006 bone development disease ISO RGD:1604754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 11750299 DIS3L2 DIS3 like 3'-5' exoribonuclease 2 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1604754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11750299 DIS3L2 DIS3 like 3'-5' exoribonuclease 2 gene DOID:2154 nephroblastoma ISO RGD:1604754 D RGD:9068941 20200609 RGD DNA:missense mutations, deletions:multiple (human) PMID:22306653|REF_RGD_ID:11558020 11750299 DIS3L2 DIS3 like 3'-5' exoribonuclease 2 gene DOID:630 genetic disease ISO RGD:1604754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25670083|PMID:25741868|PMID:28492532|PMID:30344923|PMID:30359267 11750299 DIS3L2 DIS3 like 3'-5' exoribonuclease 2 gene DOID:687 hepatoblastoma ISO RGD:1604754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 11750299 DIS3L2 DIS3 like 3'-5' exoribonuclease 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604754 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11750338 CNR1 cannabinoid receptor 1 gene DOID:0060001 withdrawal disorder ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18705688 11750338 CNR1 cannabinoid receptor 1 gene DOID:0080855 Parkinsonism ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:19414037|REF_RGD_ID:2314672 11750338 CNR1 cannabinoid receptor 1 gene DOID:10603 glucose intolerance ISO RGD:735525 D RGD:9068941 20201218 CTD CTD Direct Evidence: therapeutic PMID:26563389 11750338 CNR1 cannabinoid receptor 1 gene DOID:10763 hypertension ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:19133994|REF_RGD_ID:2314680 11750338 CNR1 cannabinoid receptor 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22034972 11750338 CNR1 cannabinoid receptor 1 gene DOID:12858 Huntington's disease ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20929960 11750338 CNR1 cannabinoid receptor 1 gene DOID:13580 cholestasis ISO RGD:735525 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:26884397 11750338 CNR1 cannabinoid receptor 1 gene DOID:1561 cognitive disorder ISO RGD:735525 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:29294249 11750338 CNR1 cannabinoid receptor 1 gene DOID:1793 pancreatic cancer ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16818650 11750338 CNR1 cannabinoid receptor 1 gene DOID:1824 status epilepticus ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:19368833|REF_RGD_ID:2314675 11750338 CNR1 cannabinoid receptor 1 gene DOID:1824 status epilepticus ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19368833 11750338 CNR1 cannabinoid receptor 1 gene DOID:1875 impotence ISO RGD:2369 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17850365|REF_RGD_ID:2314634 11750338 CNR1 cannabinoid receptor 1 gene DOID:2030 anxiety disorder ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15081793|PMID:18690112 11750338 CNR1 cannabinoid receptor 1 gene DOID:2055 post-traumatic stress disorder ISO RGD:735525 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:34262461 11750338 CNR1 cannabinoid receptor 1 gene DOID:2234 focal epilepsy ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:19595742|REF_RGD_ID:2314658 11750338 CNR1 cannabinoid receptor 1 gene DOID:2377 multiple sclerosis ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12876144 11750338 CNR1 cannabinoid receptor 1 gene DOID:289 endometriosis ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11750338 CNR1 cannabinoid receptor 1 gene DOID:303 substance-related disorder ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18690112|PMID:21513772|PMID:9888857 11750338 CNR1 cannabinoid receptor 1 gene DOID:3247 rhabdomyosarcoma ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19509271 11750338 CNR1 cannabinoid receptor 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20498848 11750338 CNR1 cannabinoid receptor 1 gene DOID:418 systemic scleroderma ISO RGD:735525 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27228633 11750338 CNR1 cannabinoid receptor 1 gene DOID:480 movement disease ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10802025 11750338 CNR1 cannabinoid receptor 1 gene DOID:4989 pancreatitis ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17484889 11750338 CNR1 cannabinoid receptor 1 gene DOID:5082 liver cirrhosis ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11433348|PMID:21863215 11750338 CNR1 cannabinoid receptor 1 gene DOID:5419 schizophrenia ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21513772 11750338 CNR1 cannabinoid receptor 1 gene DOID:5419 schizophrenia susceptibility ISO RGD:735525 D RGD:9068941 20200814 RGD PMID:11803524|PMID:15613777|REF_RGD_ID:1358449|REF_RGD_ID:1626328 11750338 CNR1 cannabinoid receptor 1 gene DOID:5419 schizophrenia treatment ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:19854030|REF_RGD_ID:2314639 11750338 CNR1 cannabinoid receptor 1 gene DOID:630 genetic disease ISO RGD:735525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11750338 CNR1 cannabinoid receptor 1 gene DOID:750 peptic ulcer disease ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:19827302|REF_RGD_ID:2314640 11750338 CNR1 cannabinoid receptor 1 gene DOID:8923 skin melanoma ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28131817 11750338 CNR1 cannabinoid receptor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:18930143|REF_RGD_ID:2316199 11750338 CNR1 cannabinoid receptor 1 gene DOID:9000641 Pain ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:19661434|REF_RGD_ID:2314649 11750338 CNR1 cannabinoid receptor 1 gene DOID:9000641 Pain ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19193902 11750338 CNR1 cannabinoid receptor 1 gene DOID:9000972 Fever ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:19681872|REF_RGD_ID:2314645 11750338 CNR1 cannabinoid receptor 1 gene DOID:9001129 Alcohol Withdrawal Delirium ISO RGD:735525 D RGD:9068941 20200609 RGD PMID:11841893|REF_RGD_ID:1626329 11750338 CNR1 cannabinoid receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043671 11750338 CNR1 cannabinoid receptor 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:2369 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta, mesenteric artery PMID:19493421|REF_RGD_ID:2314664 11750338 CNR1 cannabinoid receptor 1 gene DOID:9001981 Weight Loss ISO RGD:735525 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31570772|PMID:32365865 11750338 CNR1 cannabinoid receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17572696 11750338 CNR1 cannabinoid receptor 1 gene DOID:9002395 Hypothermia ISO RGD:735525 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:27149200|PMID:27535976|PMID:31877572|PMID:9888857 11750338 CNR1 cannabinoid receptor 1 gene DOID:9002955 Nerve Degeneration ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:18313855|REF_RGD_ID:10059347 11750338 CNR1 cannabinoid receptor 1 gene DOID:9002955 Nerve Degeneration ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11517236|PMID:24211273 11750338 CNR1 cannabinoid receptor 1 gene DOID:9003805 Catalepsy ISO RGD:735525 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10318961|PMID:27149200|PMID:27535976|PMID:31877572 11750338 CNR1 cannabinoid receptor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:19372445|REF_RGD_ID:2314674 11750338 CNR1 cannabinoid receptor 1 gene DOID:9004657 Weight Gain ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20107430 11750338 CNR1 cannabinoid receptor 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16314880|PMID:17596442|PMID:19052543 11750338 CNR1 cannabinoid receptor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2369 D RGD:9068941 20200609 RGD protein:increased expression:hypothalamus, striatum PMID:18401837|REF_RGD_ID:2314633 11750338 CNR1 cannabinoid receptor 1 gene DOID:9006024 Hypotension ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:19295473|REF_RGD_ID:2314676 11750338 CNR1 cannabinoid receptor 1 gene DOID:9006024 Hypotension ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9888857 11750338 CNR1 cannabinoid receptor 1 gene DOID:9006095 Ascites ISO RGD:2369 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis, Experimental PMID:19208344|REF_RGD_ID:2314678 11750338 CNR1 cannabinoid receptor 1 gene DOID:9006205 Animal Disease Models ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23072421 11750338 CNR1 cannabinoid receptor 1 gene DOID:9007428 Muscle Spasticity ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17220914 11750338 CNR1 cannabinoid receptor 1 gene DOID:9007692 Insulin Resistance ISO RGD:2369 D RGD:9068941 20200609 RGD associated with Obesity PMID:19553924|REF_RGD_ID:2314662 11750338 CNR1 cannabinoid receptor 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:735525 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:29805589|PMID:32751388 11750338 CNR1 cannabinoid receptor 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:18771032|REF_RGD_ID:2316217 11750338 CNR1 cannabinoid receptor 1 gene DOID:9008023 Memory Disorders ISO RGD:735525 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:29294249 11750338 CNR1 cannabinoid receptor 1 gene DOID:9008753 Intravenous Substance Abuse ISO RGD:735525 D RGD:9068941 20200609 RGD PMID:9106242|REF_RGD_ID:1358448 11750338 CNR1 cannabinoid receptor 1 gene DOID:9008953 Binge-Eating Disorder ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23072421 11750338 CNR1 cannabinoid receptor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735525 D RGD:9068941 20200609 RGD PMID:18678611|REF_RGD_ID:2314632 11750338 CNR1 cannabinoid receptor 1 gene DOID:9505 cannabis abuse ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19016476 11750338 CNR1 cannabinoid receptor 1 gene DOID:9743 diabetic neuropathy ISO RGD:2369 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18810243|REF_RGD_ID:2314631 11750338 CNR1 cannabinoid receptor 1 gene DOID:9923 developmental coordination disorder ISO RGD:735525 D RGD:9068941 20210312 CTD CTD Direct Evidence: therapeutic PMID:26460022 11750338 CNR1 cannabinoid receptor 1 gene DOID:9970 obesity ISO RGD:10370 D RGD:9068941 20200609 RGD PMID:19530697|REF_RGD_ID:2314629 11750338 CNR1 cannabinoid receptor 1 gene DOID:9970 obesity ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:19325539|REF_RGD_ID:2314630 11750338 CNR1 cannabinoid receptor 1 gene DOID:9970 obesity ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18722357 11750338 CNR1 cannabinoid receptor 1 gene DOID:9970 obesity ISO RGD:735525 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:3813A>G (human) PMID:17405839|REF_RGD_ID:1626325 11750338 CNR1 cannabinoid receptor 1 gene DOID:9970 obesity no_association ISO RGD:735525 D RGD:9068941 20200609 RGD DNA:polymorphism: :1256C>A, 1419+1G>C (human) PMID:17292652|REF_RGD_ID:1626326 11750348 KIAA0319L KIAA0319 like gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11750348 KIAA0319L KIAA0319 like gene DOID:630 genetic disease ISO RGD:1605339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11750395 ARMCX4 armadillo repeat containing X-linked 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11750395 ARMCX4 armadillo repeat containing X-linked 4 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1347581 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 11750395 ARMCX4 armadillo repeat containing X-linked 4 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1347581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 11750395 ARMCX4 armadillo repeat containing X-linked 4 gene DOID:12849 autistic disorder ISO RGD:1347581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11750438 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:0070271 Lynch syndrome 1 ISO RGD:1349068 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:24728327|PMID:25741868|PMID:28492532 11750438 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:0080745 polymyositis ISO RGD:1349068 D RGD:9068941 20200609 RGD PMID:15856462|REF_RGD_ID:2324870 11750438 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:0111944 immunodeficiency 31B ISO RGD:1349068 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 11750438 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:10223 dermatomyositis ISO RGD:1349068 D RGD:9068941 20200609 RGD PMID:15856462|REF_RGD_ID:2324870 11750438 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:2394 ovarian cancer ISO RGD:1349068 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868 11750438 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1349068 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic duct PMID:15856462|REF_RGD_ID:2324870 11750438 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1349068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Lynch syndrome PMID:25741868 11750438 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1349068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24728327|PMID:25741868 11750438 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:630 genetic disease ISO RGD:1349068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11750438 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11750438 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:9004271 Colonic Polyps ISO RGD:1349068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon polyps PMID:25637381 11750438 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11750438 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:9256 colorectal cancer ISO RGD:1349068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 11750477 C10H10orf120 chromosome 10 C10orf120 homolog gene DOID:2340 craniosynostosis ISO RGD:1604915 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 11750477 C10H10orf120 chromosome 10 C10orf120 homolog gene DOID:630 genetic disease ISO RGD:1604915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11750484 MAP2K5 mitogen-activated protein kinase kinase 5 gene DOID:10283 prostate cancer ISO RGD:735708 D RGD:9068941 20200609 RGD protein:increased expression PMID:12618764|REF_RGD_ID:2298795 11750484 MAP2K5 mitogen-activated protein kinase kinase 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:62183 D RGD:9068941 20200609 RGD PMID:11387209|REF_RGD_ID:1580866 11750484 MAP2K5 mitogen-activated protein kinase kinase 5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735708 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11750484 MAP2K5 mitogen-activated protein kinase kinase 5 gene DOID:2717 Bloom syndrome ISO RGD:735708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11750484 MAP2K5 mitogen-activated protein kinase kinase 5 gene DOID:630 genetic disease ISO RGD:735708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11750484 MAP2K5 mitogen-activated protein kinase kinase 5 gene DOID:670 amphetamine abuse ISO RGD:735708 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11750484 MAP2K5 mitogen-activated protein kinase kinase 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735708 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32512071 11750484 MAP2K5 mitogen-activated protein kinase kinase 5 gene DOID:9003936 Cardiomegaly ISO RGD:62183 D RGD:9068941 20200609 RGD PMID:11387209|REF_RGD_ID:1580866 11750484 MAP2K5 mitogen-activated protein kinase kinase 5 gene DOID:9007633 Body Weight ISO RGD:735708 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344219 11750484 MAP2K5 mitogen-activated protein kinase kinase 5 gene DOID:9007820 Sudden Death ISO RGD:62183 D RGD:9068941 20200609 RGD PMID:11387209|REF_RGD_ID:1580866 11750484 MAP2K5 mitogen-activated protein kinase kinase 5 gene DOID:9256 colorectal cancer ISO RGD:735708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11750516 RSBN1L round spermatid basic protein 1 like gene DOID:0080600 COVID-19 ISO RGD:1351057 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11750516 RSBN1L round spermatid basic protein 1 like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11750516 RSBN1L round spermatid basic protein 1 like gene DOID:630 genetic disease ISO RGD:1351057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11750516 RSBN1L round spermatid basic protein 1 like gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1351057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 11750528 AAK1 AP2 associated kinase 1 gene DOID:0050591 tooth agenesis ISO RGD:1313595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tooth agenesis 11750528 AAK1 AP2 associated kinase 1 gene DOID:630 genetic disease ISO RGD:1313595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11750603 GLP1R glucagon like peptide 1 receptor gene DOID:10603 glucose intolerance susceptibility ISO RGD:10655 D RGD:9068941 20200609 RGD PMID:8898756|REF_RGD_ID:1624349 11750603 GLP1R glucagon like peptide 1 receptor gene DOID:10763 hypertension ISO RGD:2703 D RGD:9068941 20200609 RGD PMID:12093887|REF_RGD_ID:625448 11750603 GLP1R glucagon like peptide 1 receptor gene DOID:10763 hypertension ISO RGD:736638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 11750603 GLP1R glucagon like peptide 1 receptor gene DOID:14566 disease of cellular proliferation ISO RGD:736638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23471186 11750603 GLP1R glucagon like peptide 1 receptor gene DOID:1824 status epilepticus ISO RGD:10655 D RGD:9068941 20200609 RGD PMID:12925848|REF_RGD_ID:1598440 11750603 GLP1R glucagon like peptide 1 receptor gene DOID:4195 hyperglycemia ISO RGD:2703 D RGD:9068941 20200609 RGD PMID:15879053|REF_RGD_ID:1624350 11750603 GLP1R glucagon like peptide 1 receptor gene DOID:630 genetic disease ISO RGD:736638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11750603 GLP1R glucagon like peptide 1 receptor gene DOID:9002221 Hyperplasia ISO RGD:736638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23471186 11750603 GLP1R glucagon like peptide 1 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2703 D RGD:9068941 20200609 RGD PMID:10580413|REF_RGD_ID:1624356 11750603 GLP1R glucagon like peptide 1 receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:736638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 11750603 GLP1R glucagon like peptide 1 receptor gene DOID:9970 obesity ISO RGD:2703 D RGD:9068941 20200609 RGD mRNA:decreased expression:hypothalamus medial zone PMID:15279492|REF_RGD_ID:1624351 11750622 TMEM198 transmembrane protein 198 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1605296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11750622 TMEM198 transmembrane protein 198 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1605296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11750622 TMEM198 transmembrane protein 198 gene DOID:1148 polydactyly ISO RGD:1605296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 11750622 TMEM198 transmembrane protein 198 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1605296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11750622 TMEM198 transmembrane protein 198 gene DOID:630 genetic disease ISO RGD:1605296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11750622 TMEM198 transmembrane protein 198 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11750636 SLC25A30 solute carrier family 25 member 30 gene DOID:630 genetic disease ISO RGD:1606937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11750636 SLC25A30 solute carrier family 25 member 30 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11750637 RNF151 ring finger protein 151 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1319576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 11750637 RNF151 ring finger protein 151 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1319576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11750637 RNF151 ring finger protein 151 gene DOID:1826 epilepsy ISO RGD:1319576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11750637 RNF151 ring finger protein 151 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11750637 RNF151 ring finger protein 151 gene DOID:630 genetic disease ISO RGD:1319576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11750645 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1344755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia 11750645 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1344755 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11750645 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:0110138 Bardet-Biedl syndrome 16 ISO RGD:1344755 D RGD:7240710 20180130 OMIM 11750645 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:0110138 Bardet-Biedl syndrome 16 ISO RGD:1344755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 PMID:16199547|PMID:17576681|PMID:20835237|PMID:22190896|PMID:22626039|PMID:23188109|PMID:25741868|PMID:27486776|PMID:28492532|PMID:9536098 11750645 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:12712 nephronophthisis ISO RGD:1623115 D RGD:9068941 20220929 MouseDO 11750645 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1344755 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868 11750645 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:1540 parathyroid carcinoma ISO RGD:1344755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11750645 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1344755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16199547|PMID:20835237|PMID:21866095|PMID:22190896|PMID:23559409|PMID:25741868|PMID:28492532 11750645 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:2975 cystic kidney disease ISO RGD:1344755 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20835237 11750645 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:557 kidney disease ISO RGD:1344755 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 11750645 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:5679 retinal disease ISO RGD:1344755 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20835237 11750645 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:630 genetic disease ISO RGD:1344755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20835237|PMID:22190896|PMID:25741868|PMID:28492532 11750645 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:9002186 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 ISO RGD:1344755 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 PMID:22729224|PMID:23745724|PMID:24705253|PMID:25087610|PMID:28492532 11750645 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1344755 D RGD:7240710 20180130 OMIM 11750645 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1344755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:16199547|PMID:17576681|PMID:20835237|PMID:21866095|PMID:22190896|PMID:22626039|PMID:23188109|PMID:23559409|PMID:25640679|PMID:25741868|PMID:26968886|PMID:27486776|PMID:28492532|PMID:32432520|PMID:9536098 11750645 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11750645 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11750699 WDR41 WD repeat domain 41 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1314938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 11750699 WDR41 WD repeat domain 41 gene DOID:630 genetic disease ISO RGD:1314938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11750699 WDR41 WD repeat domain 41 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11750720 AMPD1 adenosine monophosphate deaminase 1 gene DOID:0080000 muscular disease ISO RGD:735799 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11102975|PMID:18380285 11750720 AMPD1 adenosine monophosphate deaminase 1 gene DOID:0080690 RASopathy ISO RGD:735799 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11750720 AMPD1 adenosine monophosphate deaminase 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:735799 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 11750720 AMPD1 adenosine monophosphate deaminase 1 gene DOID:12849 autistic disorder ISO RGD:735799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:25155876|PMID:28492532 11750720 AMPD1 adenosine monophosphate deaminase 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:735799 D RGD:9068941 20230518 RGD DNA:SNP:exon 2:34C>T (human) PMID:11028479|REF_RGD_ID:329349360 11750720 AMPD1 adenosine monophosphate deaminase 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:735799 D RGD:9068941 20230518 RGD DNA:SNP:exon:34C>T (human) PMID:24508110|REF_RGD_ID:329412480 11750720 AMPD1 adenosine monophosphate deaminase 1 gene DOID:6000 congestive heart failure susceptibility ISO RGD:735799 D RGD:9068941 20230511 RGD DNA:SNP:exon 2:CT (human) PMID:15309698|REF_RGD_ID:329412474 11750720 AMPD1 adenosine monophosphate deaminase 1 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735799 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B PMID:25741868|PMID:28492532 11750720 AMPD1 adenosine monophosphate deaminase 1 gene DOID:9005532 Muscle Weakness ISO RGD:735799 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10996775 11750720 AMPD1 adenosine monophosphate deaminase 1 gene DOID:9007102 Myocardial Ischemia susceptibility ISO RGD:735799 D RGD:9068941 20230518 RGD associated with congestive heart failure; DNA:SNP:exon 2:34C>T (human) PMID:16875916|REF_RGD_ID:329412475 11750720 AMPD1 adenosine monophosphate deaminase 1 gene DOID:9007712 Adenosine Monophosphate Deaminase Deficiency ISO RGD:735799 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10996775|PMID:11102975|PMID:1631143 11750720 AMPD1 adenosine monophosphate deaminase 1 gene DOID:9008558 MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY ISO RGD:735799 D RGD:7240710 20190717 OMIM 11750720 AMPD1 adenosine monophosphate deaminase 1 gene DOID:9008558 MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY ISO RGD:735799 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscle AMP deaminase deficiency PMID:10996775|PMID:11102975|PMID:12117480|PMID:15173240|PMID:15378456|PMID:16199547|PMID:1631143|PMID:17576681|PMID:1922051|PMID:19353846|PMID:21343608|PMID:25155876|PMID:25741868|PMID:28492532|PMID:29095874|PMID:8335021|PMID:9536098 11750741 VAV2 vav guanine nucleotide exchange factor 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1314818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 11750741 VAV2 vav guanine nucleotide exchange factor 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1314818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11750741 VAV2 vav guanine nucleotide exchange factor 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1314818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11750741 VAV2 vav guanine nucleotide exchange factor 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1314818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11750741 VAV2 vav guanine nucleotide exchange factor 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1314818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11750741 VAV2 vav guanine nucleotide exchange factor 2 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1314818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11750741 VAV2 vav guanine nucleotide exchange factor 2 gene DOID:3652 Leigh disease ISO RGD:1314818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11750741 VAV2 vav guanine nucleotide exchange factor 2 gene DOID:630 genetic disease ISO RGD:1314818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11750774 PTPRA protein tyrosine phosphatase receptor type A gene DOID:0090103 Huntington's disease-like 1 ISO RGD:736543 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11750774 PTPRA protein tyrosine phosphatase receptor type A gene DOID:3717 gastric adenocarcinoma ISO RGD:736543 D RGD:9068941 20220304 RGD associated with metastasis; protein:increased expression:gastric mucosa (human) PMID:16338072|REF_RGD_ID:151660348 11750774 PTPRA protein tyrosine phosphatase receptor type A gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:736543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11750774 PTPRA protein tyrosine phosphatase receptor type A gene DOID:630 genetic disease ISO RGD:736543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11750774 PTPRA protein tyrosine phosphatase receptor type A gene DOID:9007102 Myocardial Ischemia ISO RGD:736543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11750774 PTPRA protein tyrosine phosphatase receptor type A gene DOID:9008352 Dystonia 30 ISO RGD:736543 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dystonia 30 PMID:25741868 11750812 CYGB cytoglobin gene DOID:0050855 renal fibrosis treatment ISO RGD:69415 D RGD:9068941 20200609 RGD PMID:20719976|REF_RGD_ID:9685174 11750812 CYGB cytoglobin gene DOID:0110405 retinitis pigmentosa 36 ISO RGD:1345183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 36 PMID:16938425|PMID:20507925|PMID:23661369|PMID:23805042|PMID:24992209|PMID:25741868|PMID:28181551|PMID:28492532|PMID:29785639 11750812 CYGB cytoglobin gene DOID:10584 retinitis pigmentosa ISO RGD:1345183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16938425|PMID:17576681|PMID:20507925|PMID:23661369|PMID:23805042|PMID:25741868|PMID:26806561|PMID:28181551|PMID:28492532|PMID:29785639|PMID:9536098 11750812 CYGB cytoglobin gene DOID:12236 primary biliary cholangitis ISO RGD:1345183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 11750812 CYGB cytoglobin gene DOID:13619 extrahepatic cholestasis ISO RGD:1345183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 11750812 CYGB cytoglobin gene DOID:5082 liver cirrhosis ISO RGD:69415 D RGD:9068941 20200609 RGD PMID:11320098|PMID:16581302|REF_RGD_ID:68672|REF_RGD_ID:9685176 11750812 CYGB cytoglobin gene DOID:557 kidney disease ISO RGD:69415 D RGD:9068941 20200609 RGD PMID:14647402|REF_RGD_ID:9685173 11750812 CYGB cytoglobin gene DOID:630 genetic disease ISO RGD:1345183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11750812 CYGB cytoglobin gene DOID:8501 fundus dystrophy ISO RGD:1345183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16938425|PMID:20507925|PMID:23805042|PMID:25741868|PMID:28181551|PMID:28492532 11750812 CYGB cytoglobin gene DOID:9001196 Nervous System Heredodegenerative Disorders ISO RGD:1345183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16825958 11750812 CYGB cytoglobin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345183 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16581302 11750812 CYGB cytoglobin gene DOID:9004250 Hepatic Insufficiency ISO RGD:1345183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 11750812 CYGB cytoglobin gene DOID:9005369 Hepatomegaly ISO RGD:1345183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 11750812 CYGB cytoglobin gene DOID:9006190 Chronic Pancreatitis ISO RGD:69415 D RGD:9068941 20200609 RGD PMID:14647402|REF_RGD_ID:9685173 11750819 CEP131 centrosomal protein 131 gene DOID:630 genetic disease ISO RGD:1346806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11750819 CEP131 centrosomal protein 131 gene DOID:684 hepatocellular carcinoma ISO RGD:1346806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11750863 L3HYPDH trans-L-3-hydroxyproline dehydratase gene DOID:630 genetic disease ISO RGD:1313918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11750863 L3HYPDH trans-L-3-hydroxyproline dehydratase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11750873 ATP6V1G1 ATPase H+ transporting V1 subunit G1 gene DOID:630 genetic disease ISO RGD:1320793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11750880 MLC1 modulator of VRAC current 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1318392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:16652334|PMID:21160490|PMID:23079554|PMID:23851226|PMID:25741868|PMID:27322623|PMID:28492532|PMID:33084218 11750880 MLC1 modulator of VRAC current 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1318392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 11750880 MLC1 modulator of VRAC current 1 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1318392 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 11750880 MLC1 modulator of VRAC current 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1318392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11750880 MLC1 modulator of VRAC current 1 gene DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts ISO RGD:1318392 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts PMID:11254442|PMID:11935341|PMID:12189496|PMID:12497630|PMID:12850517|PMID:12939431|PMID:14572144|PMID:14615938|PMID:15037685|PMID:15832614|PMID:15992519|PMID:16199547|PMID:16470554|PMID:16504440|PMID:16652334|PMID:17077634|PMID:18757878|PMID:19168821|PMID:21145992|PMID:21160490|PMID:21555057|PMID:21624973|PMID:22006981|PMID:22382567|PMID:22405205|PMID:22416245|PMID:22975760|PMID:23793458|PMID:24315536|PMID:24824219|PMID:25333069|PMID:25497041|PMID:25634434|PMID:25741868|PMID:25796299|PMID:26392452|PMID:27081509|PMID:27264811|PMID:27322623|PMID:28492532|PMID:31302377|PMID:32056211|PMID:33084218|PMID:34504271 11750880 MLC1 modulator of VRAC current 1 gene DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 ISO RGD:1318392 D RGD:7240710 20180711 OMIM 11750880 MLC1 modulator of VRAC current 1 gene DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 ISO RGD:1318392 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 PMID:11254442|PMID:11935341|PMID:12189496|PMID:12497630|PMID:12850517|PMID:12939431|PMID:14572144|PMID:14615938|PMID:15037685|PMID:15367490|PMID:15992519|PMID:16199547|PMID:16470554|PMID:16504440|PMID:16652334|PMID:17077634|PMID:17576681|PMID:18757878|PMID:19168821|PMID:20301707|PMID:20560255|PMID:21145992|PMID:21160490|PMID:21555057|PMID:21624973|PMID:22006981|PMID:22328087|PMID:22382567|PMID:22405205|PMID:22416245|PMID:22737209|PMID:22975760|PMID:23079554|PMID:23793458|PMID:23851226|PMID:24824219|PMID:25333069|PMID:25497041|PMID:25634434|PMID:25741868|PMID:25767710|PMID:25796299|PMID:26349194|PMID:26392452|PMID:27081509|PMID:27322623|PMID:28492532|PMID:28588848|PMID:28840990|PMID:32056211|PMID:33084218|PMID:34918859|PMID:9536098 11750880 MLC1 modulator of VRAC current 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1318392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11750880 MLC1 modulator of VRAC current 1 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1318392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 11750880 MLC1 modulator of VRAC current 1 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1318392 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 11750880 MLC1 modulator of VRAC current 1 gene DOID:1059 intellectual disability ISO RGD:1318392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11750880 MLC1 modulator of VRAC current 1 gene DOID:630 genetic disease ISO RGD:1318392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15992519|PMID:25741868|PMID:28492532 11750880 MLC1 modulator of VRAC current 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1318392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11750880 MLC1 modulator of VRAC current 1 gene DOID:9005369 Hepatomegaly ISO RGD:1318392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 11750880 MLC1 modulator of VRAC current 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1318392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:11254442|PMID:12939431|PMID:16199547|PMID:16470554|PMID:24824219|PMID:25741868|PMID:27264811|PMID:28492532 11750899 GNLY granulysin gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1342846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 11750899 GNLY granulysin gene DOID:630 genetic disease ISO RGD:1342846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11750908 SIGLEC1 sialic acid binding Ig like lectin 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1323674 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11750908 SIGLEC1 sialic acid binding Ig like lectin 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1323674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11750908 SIGLEC1 sialic acid binding Ig like lectin 1 gene DOID:630 genetic disease ISO RGD:1323674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11750908 SIGLEC1 sialic acid binding Ig like lectin 1 gene DOID:9001488 Human Influenza ISO RGD:1323674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11750908 SIGLEC1 sialic acid binding Ig like lectin 1 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1323674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 11750934 TMEM169 transmembrane protein 169 gene DOID:630 genetic disease ISO RGD:1602990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11750934 TMEM169 transmembrane protein 169 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11750956 RASL12 RAS like family 12 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1314790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055|PMID:28492532 11750956 RASL12 RAS like family 12 gene DOID:13250 diarrhea ISO RGD:1314790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diarrhea PMID:25741868|PMID:28898457 11750956 RASL12 RAS like family 12 gene DOID:2717 Bloom syndrome ISO RGD:1314790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11750956 RASL12 RAS like family 12 gene DOID:630 genetic disease ISO RGD:1314790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11750956 RASL12 RAS like family 12 gene DOID:9002010 Primary Bile Acid Malabsorption 2 ISO RGD:1314790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bile acid malabsorption, primary, 2 PMID:25741868|PMID:28898457 11750956 RASL12 RAS like family 12 gene DOID:9256 colorectal cancer ISO RGD:1314790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11750969 GLYATL2 glycine-N-acyltransferase like 2 gene DOID:1059 intellectual disability ISO RGD:1606424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11750969 GLYATL2 glycine-N-acyltransferase like 2 gene DOID:630 genetic disease ISO RGD:1606424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11750989 TMEM47 transmembrane protein 47 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11750989 TMEM47 transmembrane protein 47 gene DOID:12849 autistic disorder ISO RGD:1343840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11750989 TMEM47 transmembrane protein 47 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1343840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome 11750989 TMEM47 transmembrane protein 47 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11750989 TMEM47 transmembrane protein 47 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1343840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 11750996 CLIP2 CAP-Gly domain containing linker protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:734383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 11750996 CLIP2 CAP-Gly domain containing linker protein 2 gene DOID:10923 sickle cell anemia ISO RGD:734383 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 11750996 CLIP2 CAP-Gly domain containing linker protein 2 gene DOID:12849 autistic disorder ISO RGD:734383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11750996 CLIP2 CAP-Gly domain containing linker protein 2 gene DOID:1928 Williams-Beuren syndrome ISO RGD:734383 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 11750996 CLIP2 CAP-Gly domain containing linker protein 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:734383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11750996 CLIP2 CAP-Gly domain containing linker protein 2 gene DOID:5419 schizophrenia ISO RGD:734383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11750996 CLIP2 CAP-Gly domain containing linker protein 2 gene DOID:630 genetic disease ISO RGD:734383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11750996 CLIP2 CAP-Gly domain containing linker protein 2 gene DOID:8445 intestinal volvulus ISO RGD:734383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11750996 CLIP2 CAP-Gly domain containing linker protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11750996 CLIP2 CAP-Gly domain containing linker protein 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:734383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11751014 CFAP47 cilia and flagella associated protein 47 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11751014 CFAP47 cilia and flagella associated protein 47 gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1605820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 11751014 CFAP47 cilia and flagella associated protein 47 gene DOID:0112274 X-linked spermatogenic failure 3 ISO RGD:1605820 D RGD:7240710 20210310 OMIM 11751014 CFAP47 cilia and flagella associated protein 47 gene DOID:0112274 X-linked spermatogenic failure 3 ISO RGD:1605820 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 3 PMID:25741868|PMID:33472045 11751014 CFAP47 cilia and flagella associated protein 47 gene DOID:12336 male infertility ISO RGD:1620260 D RGD:9068941 20220825 MouseDO 11751014 CFAP47 cilia and flagella associated protein 47 gene DOID:12849 autistic disorder ISO RGD:1605820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11751014 CFAP47 cilia and flagella associated protein 47 gene DOID:630 genetic disease ISO RGD:1605820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751014 CFAP47 cilia and flagella associated protein 47 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11751014 CFAP47 cilia and flagella associated protein 47 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1605820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 11751080 NMI N-myc and STAT interactor gene DOID:0080600 COVID-19 ISO RGD:1323327 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11751080 NMI N-myc and STAT interactor gene DOID:630 genetic disease ISO RGD:1323327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751080 NMI N-myc and STAT interactor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11751115 SLIT2 slit guidance ligand 2 gene DOID:0050144 Kartagener syndrome ISO RGD:735484 D RGD:9068941 20220825 MouseDO 11751115 SLIT2 slit guidance ligand 2 gene DOID:0050545 visceral heterotaxy ISO RGD:735484 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 11751115 SLIT2 slit guidance ligand 2 gene DOID:0060224 atrial fibrillation ISO RGD:733021 D RGD:9068941 20230330 RGD associated with heart valve disease;protein:increased expression:right atrial myocardium PMID:33236535|REF_RGD_ID:242905189 11751115 SLIT2 slit guidance ligand 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:733021 D RGD:9068941 20220210 CTD CTD Direct Evidence: therapeutic PMID:33120864 11751115 SLIT2 slit guidance ligand 2 gene DOID:0080205 CAKUT ISO RGD:733021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:25741868|PMID:26026792|PMID:28492532 11751115 SLIT2 slit guidance ligand 2 gene DOID:0080745 polymyositis ISO RGD:733021 D RGD:9068941 20230330 RGD mRNA,protein:increased expression:muscle PMID:32213157|REF_RGD_ID:243048425 11751115 SLIT2 slit guidance ligand 2 gene DOID:10223 dermatomyositis ISO RGD:733021 D RGD:9068941 20230330 RGD mRNA,protein:increased expression:muscle PMID:32213157|REF_RGD_ID:243048425 11751115 SLIT2 slit guidance ligand 2 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:733021 D RGD:9068941 20230330 RGD associated with eye disease; protein:increased expression:vitreous PMID:28973045|REF_RGD_ID:243048421 11751115 SLIT2 slit guidance ligand 2 gene DOID:1657 ventricular septal defect ISO RGD:735484 D RGD:9068941 20230330 RGD PMID:25691540|REF_RGD_ID:243048427 11751115 SLIT2 slit guidance ligand 2 gene DOID:224 transient cerebral ischemia ISO RGD:69310 D RGD:9068941 20230330 RGD protein:increased expression:brain, astrocyte PMID:27686659|REF_RGD_ID:243048429 11751115 SLIT2 slit guidance ligand 2 gene DOID:224 transient cerebral ischemia ISO RGD:69310 D RGD:9068941 20230330 RGD protein:increased expression:hippocampus PMID:26764532|REF_RGD_ID:11573340 11751115 SLIT2 slit guidance ligand 2 gene DOID:2975 cystic kidney disease ISO RGD:735484 D RGD:9068941 20220825 MouseDO 11751115 SLIT2 slit guidance ligand 2 gene DOID:3328 temporal lobe epilepsy ISO RGD:733021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20153733 11751115 SLIT2 slit guidance ligand 2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:69310 D RGD:9068941 20230406 RGD mRNA:increased expression:lung PMID:19944214|REF_RGD_ID:243048459 11751115 SLIT2 slit guidance ligand 2 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:69310 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney, glomerulus PMID:15215188|REF_RGD_ID:2316132 11751115 SLIT2 slit guidance ligand 2 gene DOID:5409 lung small cell carcinoma ISO RGD:733021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941188 11751115 SLIT2 slit guidance ligand 2 gene DOID:630 genetic disease ISO RGD:733021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11751115 SLIT2 slit guidance ligand 2 gene DOID:684 hepatocellular carcinoma ISO RGD:733021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19100240 11751115 SLIT2 slit guidance ligand 2 gene DOID:8947 diabetic retinopathy ISO RGD:69310 D RGD:9068941 20230330 RGD mRNA,protein:increased expression:retina PMID:28973045|REF_RGD_ID:243048421 11751115 SLIT2 slit guidance ligand 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:69310 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord PMID:19783284|REF_RGD_ID:2316127 11751115 SLIT2 slit guidance ligand 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:69310 D RGD:9068941 20230401 RGD mRNA,protein:decreased expression:spinal cord: PMID:27893610|REF_RGD_ID:243048440 11751115 SLIT2 slit guidance ligand 2 gene DOID:9000998 Brain Injuries exacerbates ISO RGD:69310 D RGD:9068941 20230401 RGD PMID:26550694|REF_RGD_ID:243048437 11751115 SLIT2 slit guidance ligand 2 gene DOID:9003139 Cardiac Fibrosis ISO RGD:735484 D RGD:9068941 20230330 RGD protein:increased expression:left ventricle PMID:33236535|REF_RGD_ID:242905189 11751115 SLIT2 slit guidance ligand 2 gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:69310 D RGD:9068941 20230330 RGD PMID:31356825|REF_RGD_ID:242905191 11751115 SLIT2 slit guidance ligand 2 gene DOID:9006182 Carotid Artery Injuries ISO RGD:69310 D RGD:9068941 20230401 RGD mRNA:increased expression:carotid artery PMID:26841069|REF_RGD_ID:243048443 11751115 SLIT2 slit guidance ligand 2 gene DOID:9008104 Cancer Pain ameliorates ISO RGD:69310 D RGD:9068941 20230401 RGD PMID:26738857|REF_RGD_ID:243048441 11751115 SLIT2 slit guidance ligand 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:735484 D RGD:9068941 20220825 MouseDO 11751163 PCDHGB7 protocadherin gamma subfamily B, 7 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1344386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11751163 PCDHGB7 protocadherin gamma subfamily B, 7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1344386 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11751163 PCDHGB7 protocadherin gamma subfamily B, 7 gene DOID:630 genetic disease ISO RGD:1344386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751163 PCDHGB7 protocadherin gamma subfamily B, 7 gene DOID:9003634 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES ISO RGD:1344386 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies PMID:25741868|PMID:34244665 11751163 PCDHGB7 protocadherin gamma subfamily B, 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11751163 PCDHGB7 protocadherin gamma subfamily B, 7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344386 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11751170 AMHR2 anti-Mullerian hormone receptor type 2 gene DOID:0050791 persistent Mullerian duct syndrome ISO RGD:733276 D RGD:7240710 20180130 OMIM 11751170 AMHR2 anti-Mullerian hormone receptor type 2 gene DOID:0050791 persistent Mullerian duct syndrome ISO RGD:733276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Persistent Mullerian duct syndrome | ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type II PMID:11549681|PMID:19457927|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31291191|PMID:7493017|PMID:8872466 11751170 AMHR2 anti-Mullerian hormone receptor type 2 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:733276 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 11751170 AMHR2 anti-Mullerian hormone receptor type 2 gene DOID:1967 leiomyosarcoma ISO RGD:733276 D RGD:9068941 20200609 RGD protein:increased expression:myometrium PMID:17988723|REF_RGD_ID:2315651 11751170 AMHR2 anti-Mullerian hormone receptor type 2 gene DOID:2519 testicular disease ISO RGD:733276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of testis PMID:19457927|PMID:25741868|PMID:28528332|PMID:30668521 11751170 AMHR2 anti-Mullerian hormone receptor type 2 gene DOID:4441 dysgerminoma ISO RGD:733276 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:17988723|REF_RGD_ID:2315651 11751170 AMHR2 anti-Mullerian hormone receptor type 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:733276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 11751170 AMHR2 anti-Mullerian hormone receptor type 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 11751170 AMHR2 anti-Mullerian hormone receptor type 2 gene DOID:630 genetic disease ISO RGD:733276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11751170 AMHR2 anti-Mullerian hormone receptor type 2 gene DOID:9002739 Female Urogenital Diseases ISO RGD:733276 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 11751170 AMHR2 anti-Mullerian hormone receptor type 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733276 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ovary PMID:19424576|REF_RGD_ID:2315638 11751170 AMHR2 anti-Mullerian hormone receptor type 2 gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:733276 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Male pseudohermaphroditism PMID:25741868 11751170 AMHR2 anti-Mullerian hormone receptor type 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11751170 AMHR2 anti-Mullerian hormone receptor type 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:733276 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:17988723|REF_RGD_ID:2315651 11751199 RASSF2 Ras association domain family member 2 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1313644 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11751199 RASSF2 Ras association domain family member 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1313644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11751199 RASSF2 Ras association domain family member 2 gene DOID:630 genetic disease ISO RGD:1313644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751199 RASSF2 Ras association domain family member 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1313644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013896 11751199 RASSF2 Ras association domain family member 2 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:1313644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013896 11751227 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:0080162 lupus nephritis treatment ISO RGD:1313167 D RGD:9068941 20200609 RGD mouse model PMID:15494537|REF_RGD_ID:10760401 11751227 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:0080162 lupus nephritis treatment ISO RGD:1313168 D RGD:9068941 20200609 RGD mouse model PMID:15494537|REF_RGD_ID:10760401 11751227 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:0080162 lupus nephritis treatment ISO RGD:2321675 D RGD:9068941 20200609 RGD mouse model PMID:15494537|REF_RGD_ID:10760401 11751227 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:0110698 hypotrichosis 1 ISO RGD:1313167 D RGD:9068941 20200609 RGD DNA:snp:cds:c.1A>G (human) PMID:23246290|REF_RGD_ID:10768831 11751227 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:0110708 hypotrichosis 11 ISO RGD:1313167 D RGD:7240710 20180130 OMIM 11751227 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:0110708 hypotrichosis 11 ISO RGD:1313167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotrichosis 11 PMID:23246290|PMID:9621144 11751227 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1313167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11751227 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:10283 prostate cancer severity ISO RGD:1313167 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland (human) PMID:22740892|REF_RGD_ID:10768830 11751227 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:1540 parathyroid carcinoma ISO RGD:1313167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11751227 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:1924 hypogonadism ISO RGD:1313168 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E51D (mouse) PMID:22258617|REF_RGD_ID:10768832 11751227 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:3910 lung adenocarcinoma severity ISO RGD:1313167 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:22876301|REF_RGD_ID:10768834 11751227 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:4535 hypotrichosis ISO RGD:1313167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11751227 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:630 genetic disease ISO RGD:1313167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751227 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:684 hepatocellular carcinoma ISO RGD:1313167 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:21688285|REF_RGD_ID:10768833 11751227 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:769 neuroblastoma severity ISO RGD:1313167 D RGD:9068941 20200609 RGD mRNA:decreased expression:neuroblastoma (human) PMID:17075126|REF_RGD_ID:10755762 11751227 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1313167 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11751227 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11751227 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:9261 nasopharynx carcinoma ISO RGD:1313167 D RGD:9068941 20200609 RGD mRNA:increased expression:nasopharynx (human) PMID:24080422|REF_RGD_ID:10755709 11751227 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:9952 acute lymphoblastic leukemia severity ISO RGD:1313167 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone marrow, blood, mononuclear cell (human) PMID:23915977|REF_RGD_ID:10768836 11751246 KBTBD3 kelch repeat and BTB domain containing 3 gene DOID:1059 intellectual disability ISO RGD:1322060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11751246 KBTBD3 kelch repeat and BTB domain containing 3 gene DOID:12704 ataxia telangiectasia ISO RGD:1322060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11751246 KBTBD3 kelch repeat and BTB domain containing 3 gene DOID:630 genetic disease ISO RGD:1322060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751246 KBTBD3 kelch repeat and BTB domain containing 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11751264 PRSS21 serine protease 21 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1344108 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11751264 PRSS21 serine protease 21 gene DOID:1826 epilepsy ISO RGD:1344108 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11751264 PRSS21 serine protease 21 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344108 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11751264 PRSS21 serine protease 21 gene DOID:630 genetic disease ISO RGD:1344108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751265 ERCC6L ERCC excision repair 6 like, spindle assembly checkpoint helicase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11751265 ERCC6L ERCC excision repair 6 like, spindle assembly checkpoint helicase gene DOID:12849 autistic disorder ISO RGD:1606557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11751265 ERCC6L ERCC excision repair 6 like, spindle assembly checkpoint helicase gene DOID:3907 lung squamous cell carcinoma ISO RGD:1606557 D RGD:9068941 20221006 RGD mRNA:increased expression:lung (human) PMID:35150321|REF_RGD_ID:155260359 11751265 ERCC6L ERCC excision repair 6 like, spindle assembly checkpoint helicase gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1606557 D RGD:9068941 20221006 RGD mRNA:increased expression:lung (human) PMID:35150321|REF_RGD_ID:155260359 11751265 ERCC6L ERCC excision repair 6 like, spindle assembly checkpoint helicase gene DOID:630 genetic disease ISO RGD:1606557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751265 ERCC6L ERCC excision repair 6 like, spindle assembly checkpoint helicase gene DOID:9256 colorectal cancer exacerbates ISO RGD:1606557 D RGD:9068941 20221020 RGD mRNA, protein:increased expression:colorectum (human) PMID:31289493|REF_RGD_ID:155598681 11751271 DNAAF10 dynein axonemal assembly factor 10 gene DOID:630 genetic disease ISO RGD:1605887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751289 RRN3 RRN3 homolog, RNA polymerase I transcription factor gene DOID:12849 autistic disorder ISO RGD:1347637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11751289 RRN3 RRN3 homolog, RNA polymerase I transcription factor gene DOID:14330 Parkinson's disease ISO RGD:1553236 D RGD:9068941 20220825 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 11751289 RRN3 RRN3 homolog, RNA polymerase I transcription factor gene DOID:1826 epilepsy ISO RGD:1347637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11751289 RRN3 RRN3 homolog, RNA polymerase I transcription factor gene DOID:5419 schizophrenia ISO RGD:1347637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11751289 RRN3 RRN3 homolog, RNA polymerase I transcription factor gene DOID:630 genetic disease ISO RGD:1347637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751290 EBNA1BP2 EBNA1 binding protein 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1313990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11751290 EBNA1BP2 EBNA1 binding protein 2 gene DOID:630 genetic disease ISO RGD:1313990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751290 EBNA1BP2 EBNA1 binding protein 2 gene DOID:9007802 GLUT1 Deficiency Syndrome ISO RGD:1313990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive PMID:28492532 11751305 RMND5B required for meiotic nuclear division 5 homolog B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11751305 RMND5B required for meiotic nuclear division 5 homolog B gene DOID:0070015 autosomal recessive dyskeratosis congenita 1 ISO RGD:1604317 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 PMID:18523010|PMID:20301779|PMID:25741868|PMID:28492532 11751305 RMND5B required for meiotic nuclear division 5 homolog B gene DOID:0070017 autosomal recessive dyskeratosis congenita 2 ISO RGD:1604317 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 2 PMID:18523010|PMID:20301779|PMID:25741868|PMID:28492532 11751305 RMND5B required for meiotic nuclear division 5 homolog B gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1604317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11751305 RMND5B required for meiotic nuclear division 5 homolog B gene DOID:0112103 Sotos syndrome 1 ISO RGD:1604317 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11751305 RMND5B required for meiotic nuclear division 5 homolog B gene DOID:2729 dyskeratosis congenita ISO RGD:1604317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18523010|PMID:25741868|PMID:28492532 11751305 RMND5B required for meiotic nuclear division 5 homolog B gene DOID:630 genetic disease ISO RGD:1604317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751305 RMND5B required for meiotic nuclear division 5 homolog B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604317 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11751332 ITSN1 intersectin 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:737072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11751332 ITSN1 intersectin 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:737072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 11751332 ITSN1 intersectin 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:737072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11751332 ITSN1 intersectin 1 gene DOID:0080600 COVID-19 ISO RGD:737072 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11751332 ITSN1 intersectin 1 gene DOID:1184 nephrotic syndrome ISO RGD:737072 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:29773874 11751332 ITSN1 intersectin 1 gene DOID:12849 autistic disorder ISO RGD:737072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868 11751332 ITSN1 intersectin 1 gene DOID:1826 epilepsy ISO RGD:737072 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Generalized-onset seizure PMID:25741868 11751332 ITSN1 intersectin 1 gene DOID:630 genetic disease ISO RGD:737072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751332 ITSN1 intersectin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11751332 ITSN1 intersectin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11751332 ITSN1 intersectin 1 gene DOID:9005698 ZTTK Syndrome ISO RGD:737072 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 11751332 ITSN1 intersectin 1 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:737072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 11751375 CST6 cystatin E/M gene DOID:0060713 autosomal recessive congenital ichthyosis 4B ISO RGD:733622 D RGD:9068941 20220825 MouseDO OMIM:242500 11751375 CST6 cystatin E/M gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1352727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 11751375 CST6 cystatin E/M gene DOID:0111651 ectodermal dysplasia 15 ISO RGD:1352727 D RGD:7240710 20190904 OMIM 11751375 CST6 cystatin E/M gene DOID:0111651 ectodermal dysplasia 15 ISO RGD:1352727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 15, hypohidrotic/hair type PMID:25741868|PMID:30425301 11751375 CST6 cystatin E/M gene DOID:1059 intellectual disability ISO RGD:1352727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11751375 CST6 cystatin E/M gene DOID:1909 melanoma ISO RGD:1352727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11751375 CST6 cystatin E/M gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1352727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11751375 CST6 cystatin E/M gene DOID:2746 glycogen storage disease V ISO RGD:1352727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11751375 CST6 cystatin E/M gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043644 11751375 CST6 cystatin E/M gene DOID:630 genetic disease ISO RGD:1352727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751375 CST6 cystatin E/M gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19503093 11751375 CST6 cystatin E/M gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1352727 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11751375 CST6 cystatin E/M gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1352727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11751375 CST6 cystatin E/M gene DOID:9008939 Breast Neoplasms ISO RGD:1352727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043665 11751396 WNT1 Wnt family member 1 gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:1344355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type III PMID:25741868|PMID:28492532|PMID:30715774|PMID:32770541 11751396 WNT1 Wnt family member 1 gene DOID:0110347 osteogenesis imperfecta type 15 ISO RGD:1344355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 15 PMID:22653731|PMID:23434763|PMID:23499309|PMID:23499310|PMID:23656646|PMID:25741868|PMID:28492532|PMID:28528193|PMID:29481978|PMID:29499418|PMID:29620724|PMID:30896082|PMID:30913006 11751396 WNT1 Wnt family member 1 gene DOID:0110347 osteogenesis imperfecta type 15 susceptibility ISO RGD:1344355 D RGD:7240710 20230505 OMIM 11751396 WNT1 Wnt family member 1 gene DOID:10126 keratoconus ISO RGD:1344355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus PMID:23434763 11751396 WNT1 Wnt family member 1 gene DOID:11476 osteoporosis ISO RGD:1344355 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Osteoporosis PMID:23499309|PMID:23656646|PMID:25741868 11751396 WNT1 Wnt family member 1 gene DOID:11476 osteoporosis susceptibility ISO RGD:1344355 D RGD:7240710 20230505 OMIM 11751396 WNT1 Wnt family member 1 gene DOID:12347 osteogenesis imperfecta ISO RGD:1344355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:23434763|PMID:23499309|PMID:23499310|PMID:25741868|PMID:27450065|PMID:28492532|PMID:28725987|PMID:29499418|PMID:30715774|PMID:30896082|PMID:30913006|PMID:33093841|PMID:33195954|PMID:34335676|PMID:36056132 11751396 WNT1 Wnt family member 1 gene DOID:1612 breast cancer ISO RGD:11491 D RGD:9068941 20220825 MouseDO OMIM:114480 11751396 WNT1 Wnt family member 1 gene DOID:1936 atherosclerosis ameliorates ISO RGD:11491 D RGD:9068941 20230330 RGD PMID:35854140|REF_RGD_ID:242905195 11751396 WNT1 Wnt family member 1 gene DOID:630 genetic disease ISO RGD:1344355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22653731|PMID:23499309|PMID:23499310|PMID:23656646|PMID:25741868|PMID:27450065|PMID:28492532|PMID:28528193|PMID:28725987|PMID:29620724|PMID:30715774|PMID:30913006|PMID:33093841|PMID:33195954|PMID:34335676|PMID:36056132 11751396 WNT1 Wnt family member 1 gene DOID:65 connective tissue disease ISO RGD:1344355 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868 11751396 WNT1 Wnt family member 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:11491 D RGD:9068941 20200609 RGD mRNA:increased expression:tumors:insertion of MMTV into Wnt1 gene increases expression and decreases latency of tumorigenesis in WAP-TGFalpha mice PMID:10918574|REF_RGD_ID:2298804 11751396 WNT1 Wnt family member 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:11491 D RGD:9068941 20200609 RGD in vitro transformation of transfected C57MG mammary epithelial cell line PMID:8065359|PMID:9419423|REF_RGD_ID:2298848|REF_RGD_ID:2298863 11751409 ANO4 anoctamin 4 gene DOID:289 endometriosis ISO RGD:1321043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11751409 ANO4 anoctamin 4 gene DOID:303 substance-related disorder ISO RGD:1321043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11751409 ANO4 anoctamin 4 gene DOID:630 genetic disease ISO RGD:1321043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751492 FOXN2 forkhead box N2 gene DOID:0080600 COVID-19 ISO RGD:1343664 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11751492 FOXN2 forkhead box N2 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:1343664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 11751492 FOXN2 forkhead box N2 gene DOID:630 genetic disease ISO RGD:1343664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751492 FOXN2 forkhead box N2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:30057029 11751513 GINS3 GINS complex subunit 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604313 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11751513 GINS3 GINS complex subunit 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604313 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11751513 GINS3 GINS complex subunit 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604313 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11751513 GINS3 GINS complex subunit 3 gene DOID:630 genetic disease ISO RGD:1604313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751521 ARID3A AT-rich interaction domain 3A gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1313245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 11751521 ARID3A AT-rich interaction domain 3A gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1313245 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 11751521 ARID3A AT-rich interaction domain 3A gene DOID:5339 cyclic hematopoiesis ISO RGD:1313245 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11751521 ARID3A AT-rich interaction domain 3A gene DOID:630 genetic disease ISO RGD:1313245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751521 ARID3A AT-rich interaction domain 3A gene DOID:684 hepatocellular carcinoma ISO RGD:1313245 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35179300 11751531 SLC39A13 solute carrier family 39 member 13 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1312289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11751531 SLC39A13 solute carrier family 39 member 13 gene DOID:0080001 bone disease ISO RGD:1312289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228435 11751531 SLC39A13 solute carrier family 39 member 13 gene DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 ISO RGD:1312289 D RGD:7240710 20180130 OMIM 11751531 SLC39A13 solute carrier family 39 member 13 gene DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 ISO RGD:1312289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 | ClinVar Annotator: match by term: Spondylocheirodysplasia, Ehlers-Danlos syndrome-like PMID:17576681|PMID:18513683|PMID:18985159|PMID:24033266|PMID:25007800|PMID:25741868|PMID:28492532|PMID:9536098 11751531 SLC39A13 solute carrier family 39 member 13 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1312289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 11751531 SLC39A13 solute carrier family 39 member 13 gene DOID:1059 intellectual disability ISO RGD:1312289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11751531 SLC39A13 solute carrier family 39 member 13 gene DOID:11830 myopia ISO RGD:1312289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868|PMID:28492532 11751531 SLC39A13 solute carrier family 39 member 13 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1312289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 11751531 SLC39A13 solute carrier family 39 member 13 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1312289 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28492532 11751531 SLC39A13 solute carrier family 39 member 13 gene DOID:3144 cutis laxa ISO RGD:1312289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa PMID:25741868|PMID:28492532 11751531 SLC39A13 solute carrier family 39 member 13 gene DOID:419 scleroderma ISO RGD:1312289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scleroderma PMID:25741868|PMID:28492532 11751531 SLC39A13 solute carrier family 39 member 13 gene DOID:630 genetic disease ISO RGD:1312289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11751531 SLC39A13 solute carrier family 39 member 13 gene DOID:65 connective tissue disease ISO RGD:1312289 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 11751531 SLC39A13 solute carrier family 39 member 13 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:1304695 D RGD:9068941 20200609 RGD protein:increased expression:liver, endoplasmic reticulum (rat) PMID:25767260|REF_RGD_ID:11553884 11751531 SLC39A13 solute carrier family 39 member 13 gene DOID:9003358 Kyphosis ISO RGD:1312289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18985159 11751531 SLC39A13 solute carrier family 39 member 13 gene DOID:9003921 Zinc Deficiency ISO RGD:1304695 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, kidney (rat) PMID:20859692|REF_RGD_ID:11553849 11751531 SLC39A13 solute carrier family 39 member 13 gene DOID:9009007 Tooth Abnormalities ISO RGD:1312289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18985159|PMID:22228435 11751531 SLC39A13 solute carrier family 39 member 13 gene DOID:988 mitral valve prolapse ISO RGD:1312289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitral valve prolapse PMID:25741868|PMID:28492532 11751563 MICALL1 MICAL like 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1602200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11751563 MICALL1 MICAL like 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1602200 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11751563 MICALL1 MICAL like 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1602200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11751563 MICALL1 MICAL like 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1602200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11751563 MICALL1 MICAL like 1 gene DOID:630 genetic disease ISO RGD:1602200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751583 IFITM2 interferon induced transmembrane protein 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1352409 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11751583 IFITM2 interferon induced transmembrane protein 2 gene DOID:0080600 COVID-19 ISO RGD:1352409 D RGD:9068941 20230427 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11751583 IFITM2 interferon induced transmembrane protein 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:1352409 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11751583 IFITM2 interferon induced transmembrane protein 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1352409 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11751583 IFITM2 interferon induced transmembrane protein 2 gene DOID:630 genetic disease ISO RGD:1352409 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751589 GSTM2 glutathione S-transferase mu 2 gene DOID:0080600 COVID-19 ISO RGD:735264 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11751589 GSTM2 glutathione S-transferase mu 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:735264 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11751589 GSTM2 glutathione S-transferase mu 2 gene DOID:10763 hypertension ISO RGD:2756 D RGD:9068941 20200609 RGD PMID:18008142|REF_RGD_ID:2302178 11751589 GSTM2 glutathione S-transferase mu 2 gene DOID:10763 hypertension ISO RGD:2756 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney (rat) PMID:12624007|REF_RGD_ID:631154 11751589 GSTM2 glutathione S-transferase mu 2 gene DOID:12849 autistic disorder ISO RGD:735264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11751589 GSTM2 glutathione S-transferase mu 2 gene DOID:1289 neurodegenerative disease ISO RGD:735264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 11751589 GSTM2 glutathione S-transferase mu 2 gene DOID:14250 Down syndrome ISO RGD:735264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11771762 11751589 GSTM2 glutathione S-transferase mu 2 gene DOID:3021 acute kidney failure ISO RGD:735264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 11751589 GSTM2 glutathione S-transferase mu 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19900515 11751589 GSTM2 glutathione S-transferase mu 2 gene DOID:630 genetic disease ISO RGD:735264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751589 GSTM2 glutathione S-transferase mu 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:735264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11751589 GSTM2 glutathione S-transferase mu 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 11751608 POF1B POF1B actin binding protein gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1351618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability 11751608 POF1B POF1B actin binding protein gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11751608 POF1B POF1B actin binding protein gene DOID:0080859 primary ovarian insufficiency 2B ISO RGD:1351618 D RGD:7240710 20180130 OMIM 11751608 POF1B POF1B actin binding protein gene DOID:0080859 primary ovarian insufficiency 2B ISO RGD:1351618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 2B PMID:15459172|PMID:16773570|PMID:21940798|PMID:25676666|PMID:25741868|PMID:28492532 11751608 POF1B POF1B actin binding protein gene DOID:0112046 non-syndromic X-linked intellectual disability 97 ISO RGD:1351618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 97 11751608 POF1B POF1B actin binding protein gene DOID:12849 autistic disorder ISO RGD:1351618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11751608 POF1B POF1B actin binding protein gene DOID:5426 primary ovarian insufficiency ISO RGD:1351618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:15459172|PMID:16773570|PMID:21940798|PMID:25676666|PMID:25741868|PMID:28492532 11751608 POF1B POF1B actin binding protein gene DOID:630 genetic disease ISO RGD:1351618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751629 RGS20 regulator of G protein signaling 20 gene DOID:630 genetic disease ISO RGD:1312560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751650 ARNT2 aryl hydrocarbon receptor nuclear translocator 2 gene DOID:0050726 tyrosinemia type I ISO RGD:736413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tyrosinemia type I PMID:28492532 11751650 ARNT2 aryl hydrocarbon receptor nuclear translocator 2 gene DOID:0060224 atrial fibrillation ISO RGD:736413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 11751650 ARNT2 aryl hydrocarbon receptor nuclear translocator 2 gene DOID:2717 Bloom syndrome ISO RGD:736413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11751650 ARNT2 aryl hydrocarbon receptor nuclear translocator 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 11751650 ARNT2 aryl hydrocarbon receptor nuclear translocator 2 gene DOID:630 genetic disease ISO RGD:736413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11751650 ARNT2 aryl hydrocarbon receptor nuclear translocator 2 gene DOID:9005676 Webb-Dattani Syndrome ISO RGD:736413 D RGD:7240710 20200226 OMIM 11751650 ARNT2 aryl hydrocarbon receptor nuclear translocator 2 gene DOID:9005676 Webb-Dattani Syndrome ISO RGD:736413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Webb-Dattani syndrome PMID:24022475|PMID:25741868|PMID:28492532 11751650 ARNT2 aryl hydrocarbon receptor nuclear translocator 2 gene DOID:9256 colorectal cancer ISO RGD:736413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 11751681 CLCN2 chloride voltage-gated channel 2 gene DOID:0050753 cerebellar ataxia ISO RGD:733366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 11751681 CLCN2 chloride voltage-gated channel 2 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:733366 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11751681 CLCN2 chloride voltage-gated channel 2 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:733366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11751681 CLCN2 chloride voltage-gated channel 2 gene DOID:0111312 idiopathic generalized epilepsy 11 ISO RGD:733366 D RGD:7240710 20230505 OMIM 11751681 CLCN2 chloride voltage-gated channel 2 gene DOID:0111312 idiopathic generalized epilepsy 11 ISO RGD:733366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 11 PMID:12612585|PMID:1521363|PMID:15252188|PMID:15505175|PMID:16199547|PMID:16932951|PMID:17567819|PMID:17762171|PMID:19191339|PMID:19200853|PMID:19710712|PMID:19861545|PMID:21703448|PMID:23542698|PMID:23632988|PMID:23707145|PMID:25741868|PMID:25907736|PMID:28488083|PMID:28492532|PMID:29403011|PMID:31589614|PMID:32906206 11751681 CLCN2 chloride voltage-gated channel 2 gene DOID:0111546 Currarino syndrome ISO RGD:733366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11751681 CLCN2 chloride voltage-gated channel 2 gene DOID:10579 leukodystrophy ISO RGD:736064 D RGD:9068941 20220825 MouseDO 11751681 CLCN2 chloride voltage-gated channel 2 gene DOID:1059 intellectual disability ISO RGD:733366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities PMID:17762171|PMID:25741868|PMID:28492532 11751681 CLCN2 chloride voltage-gated channel 2 gene DOID:12849 autistic disorder ISO RGD:733366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868 11751681 CLCN2 chloride voltage-gated channel 2 gene DOID:1485 cystic fibrosis ISO RGD:2361 D RGD:9068941 20200609 RGD PMID:8811102|REF_RGD_ID:704390 11751681 CLCN2 chloride voltage-gated channel 2 gene DOID:1826 epilepsy ISO RGD:733366 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:17762171|PMID:25741868|PMID:28492532 11751681 CLCN2 chloride voltage-gated channel 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:733366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11751681 CLCN2 chloride voltage-gated channel 2 gene DOID:1969 cerebral palsy ISO RGD:733366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:19191339|PMID:23632988|PMID:25741868|PMID:28492532 11751681 CLCN2 chloride voltage-gated channel 2 gene DOID:3070 high grade glioma ISO RGD:733366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12843258 11751681 CLCN2 chloride voltage-gated channel 2 gene DOID:446 primary hyperaldosteronism ISO RGD:733366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29403012 11751681 CLCN2 chloride voltage-gated channel 2 gene DOID:446 primary hyperaldosteronism ISO RGD:736064 D RGD:9068941 20220825 MouseDO OMIM:605635 | OMIM:613677 11751681 CLCN2 chloride voltage-gated channel 2 gene DOID:630 genetic disease ISO RGD:733366 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11751681 CLCN2 chloride voltage-gated channel 2 gene DOID:9006303 Familial Hyperaldosteronism, Type II ISO RGD:733366 D RGD:7240710 20190315 OMIM 11751681 CLCN2 chloride voltage-gated channel 2 gene DOID:9006303 Familial Hyperaldosteronism, Type II ISO RGD:733366 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: FH II | ClinVar Annotator: match by term: Familial hyperaldosteronism type II PMID:1521363|PMID:17762171|PMID:19191339|PMID:19861545|PMID:21703448|PMID:23542698|PMID:23707145|PMID:25741868|PMID:25907736|PMID:28492532|PMID:29403011|PMID:29403012|PMID:31589614|PMID:32906206 11751681 CLCN2 chloride voltage-gated channel 2 gene DOID:9008250 Leukoencephalopathy with Ataxia ISO RGD:733366 D RGD:7240710 20180130 OMIM 11751681 CLCN2 chloride voltage-gated channel 2 gene DOID:9008250 Leukoencephalopathy with Ataxia ISO RGD:733366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with ataxia PMID:12612585|PMID:15252188|PMID:15505175|PMID:16932951|PMID:17567819|PMID:17576681|PMID:17762171|PMID:19191339|PMID:19710712|PMID:21703448|PMID:23632988|PMID:23707145|PMID:25128180|PMID:25741868|PMID:28337550|PMID:28492532|PMID:28905383|PMID:31589614|PMID:32906206|PMID:9536098 11751712 EBF4 EBF family member 4 gene DOID:0080600 COVID-19 ISO RGD:1625812 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11751712 EBF4 EBF family member 4 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1625812 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11751712 EBF4 EBF family member 4 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1625812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11751712 EBF4 EBF family member 4 gene DOID:630 genetic disease ISO RGD:1625812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751731 ING4 inhibitor of growth family member 4 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1319738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11751731 ING4 inhibitor of growth family member 4 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1319738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11751731 ING4 inhibitor of growth family member 4 gene DOID:0111621 Temtamy syndrome ISO RGD:1319738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11751731 ING4 inhibitor of growth family member 4 gene DOID:10283 prostate cancer ISO RGD:1319738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11751731 ING4 inhibitor of growth family member 4 gene DOID:630 genetic disease ISO RGD:1319738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751731 ING4 inhibitor of growth family member 4 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1319738 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27806345 11751731 ING4 inhibitor of growth family member 4 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1319738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11751731 ING4 inhibitor of growth family member 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319738 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27806345 11751754 PTGER1 prostaglandin E receptor 1 gene DOID:10808 gastric ulcer treatment ISO RGD:3434 D RGD:9068941 20200609 RGD PMID:10807413|REF_RGD_ID:10043357 11751754 PTGER1 prostaglandin E receptor 1 gene DOID:10808 gastric ulcer treatment ISO RGD:735522 D RGD:9068941 20200609 RGD PMID:10807413|REF_RGD_ID:10043357 11751754 PTGER1 prostaglandin E receptor 1 gene DOID:11111 hydronephrosis ISO RGD:733054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30641090 11751754 PTGER1 prostaglandin E receptor 1 gene DOID:1749 squamous cell carcinoma ISO RGD:733054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21739481 11751754 PTGER1 prostaglandin E receptor 1 gene DOID:1876 sexual dysfunction ISO RGD:733054 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18726914 11751754 PTGER1 prostaglandin E receptor 1 gene DOID:299 adenocarcinoma ISO RGD:733054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11751431 11751754 PTGER1 prostaglandin E receptor 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:733054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11751431 11751754 PTGER1 prostaglandin E receptor 1 gene DOID:630 genetic disease ISO RGD:733054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751754 PTGER1 prostaglandin E receptor 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11751431 11751754 PTGER1 prostaglandin E receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:733054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11375261 11751754 PTGER1 prostaglandin E receptor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11751431 11751761 VAT1 vesicle amine transport 1 gene DOID:630 genetic disease ISO RGD:1319007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751771 TRAM1 translocation associated membrane protein 1 gene DOID:630 genetic disease ISO RGD:1346981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751787 PIGF phosphatidylinositol glycan anchor biosynthesis class F gene DOID:3883 Lynch syndrome ISO RGD:1351645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11751787 PIGF phosphatidylinositol glycan anchor biosynthesis class F gene DOID:630 genetic disease ISO RGD:1351645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751787 PIGF phosphatidylinositol glycan anchor biosynthesis class F gene DOID:9001770 ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME ISO RGD:1351645 D RGD:7240710 20210818 OMIM 11751787 PIGF phosphatidylinositol glycan anchor biosynthesis class F gene DOID:9001770 ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME ISO RGD:1351645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome PMID:33386993 11751787 PIGF phosphatidylinositol glycan anchor biosynthesis class F gene DOID:9004904 SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES ISO RGD:1351645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature with microcephaly and distinctive facies PMID:27250922 11751804 TMEM243 transmembrane protein 243 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11751804 TMEM243 transmembrane protein 243 gene DOID:630 genetic disease ISO RGD:1349104 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:0050850 diabetic encephalopathy ISO RGD:620897 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17601561|REF_RGD_ID:7771546 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:0060180 colitis severity ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:22461024|REF_RGD_ID:7771532 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:0080600 COVID-19 ISO RGD:732954 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:0110112 atrial heart septal defect 7 ISO RGD:732954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:732954 D RGD:9068941 20200609 RGD PMID:9010448|REF_RGD_ID:2298698 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:10603 glucose intolerance resistance ISO RGD:732955 D RGD:9068941 20200609 RGD PMID:16814733|REF_RGD_ID:2298673 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:10754 otitis media treatment ISO RGD:732955 D RGD:9068941 20200609 RGD PMID:22610099|REF_RGD_ID:7771533 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:10762 portal hypertension ISO RGD:620897 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:stomach mucosa PMID:11758828|REF_RGD_ID:2298677 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:10763 hypertension ISO RGD:620897 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta PMID:9231829|REF_RGD_ID:2298678 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:10908 hydrocephalus ISO RGD:732954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732954 D RGD:9068941 20200609 RGD PMID:17690186|REF_RGD_ID:2298694 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:11832 visual epilepsy ISO RGD:620897 D RGD:9068941 20200609 RGD PMID:8626780|REF_RGD_ID:728656 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:11832 visual epilepsy ISO RGD:620897 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:8883936|REF_RGD_ID:2298690 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:12858 Huntington's disease treatment ISO RGD:620897 D RGD:9068941 20200609 RGD PMID:23392662|REF_RGD_ID:7771544 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:1470 major depressive disorder ISO RGD:732954 D RGD:9068941 20200609 RGD mRNA:increased expression:dentated gyrus, hippocampus A1 PMID:20953200|REF_RGD_ID:7771583 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:1612 breast cancer ISO RGD:732954 D RGD:9068941 20200609 RGD protein:increased expression:T cell PMID:9724088|REF_RGD_ID:2298697 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:1612 breast cancer ISO RGD:732954 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland PMID:12618338|REF_RGD_ID:7495809 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:1612 breast cancer disease_progression ISO RGD:732954 D RGD:9068941 20200609 RGD PMID:19417026|REF_RGD_ID:7495851 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:1612 breast cancer severity ISO RGD:732954 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:22333693|REF_RGD_ID:7495850 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:732954 D RGD:9068941 20200609 RGD mRNA:increased expression:saliva PMID:23892499|REF_RGD_ID:7771538 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:224 transient cerebral ischemia ISO RGD:620897 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:22197701|REF_RGD_ID:7771582 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:2349 arteriosclerosis ISO RGD:732955 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:15242861|REF_RGD_ID:2298676 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:2773 contact dermatitis ISO RGD:732954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:2773 contact dermatitis treatment ISO RGD:732955 D RGD:9068941 20200609 RGD PMID:23076500|REF_RGD_ID:7771535 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:289 endometriosis ISO RGD:732954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:732954 D RGD:9068941 20200609 RGD PMID:12432554|REF_RGD_ID:2298695 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:620897 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:8587253|REF_RGD_ID:633769 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:4989 pancreatitis ISO RGD:620897 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:11027531|REF_RGD_ID:2301725 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:630 genetic disease ISO RGD:732954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:732954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:8893 psoriasis ISO RGD:732954 D RGD:9068941 20200609 RGD mRNA:decreased expression:skin PMID:22924482|REF_RGD_ID:7495852 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620897 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:18630599|REF_RGD_ID:7771572 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:620897 D RGD:9068941 20200609 RGD PMID:19383246|REF_RGD_ID:7771580 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:620897 D RGD:9068941 20200609 RGD PMID:21094639|REF_RGD_ID:7495849 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:9002211 Hyperalgesia treatment ISO RGD:620897 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:22540262|PMID:22901764|REF_RGD_ID:7771531|REF_RGD_ID:7771574 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:620897 D RGD:9068941 20200609 RGD PMID:12487923|REF_RGD_ID:7771581 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:620897 D RGD:9068941 20200609 RGD PMID:19347983|REF_RGD_ID:7771584 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:732954 D RGD:9068941 20200609 RGD PMID:20837666|REF_RGD_ID:5129167 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620897 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:ventricle myocardium PMID:17647144|REF_RGD_ID:2298672 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620897 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:17063547|REF_RGD_ID:7771540 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:9005882 Spine Osteoarthritis ISO RGD:732954 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34697729 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:620897 D RGD:9068941 20200609 RGD PMID:9546380|REF_RGD_ID:7771579 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:9006478 Amyloid Neuropathies ISO RGD:732954 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:salivary gland, nerve PMID:16515552|REF_RGD_ID:7771547 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:732954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:732954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:9065 leishmaniasis treatment ISO RGD:732955 D RGD:9068941 20200609 RGD PMID:21471446|REF_RGD_ID:7771536 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:620897 D RGD:9068941 20200609 RGD PMID:7485483|REF_RGD_ID:2298693 11751816 DUSP1 dual specificity phosphatase 1 gene DOID:9970 obesity susceptibility ISO RGD:732955 D RGD:9068941 20200609 RGD PMID:16814733|REF_RGD_ID:2298673 11751830 PRKD3 protein kinase D3 gene DOID:0080690 RASopathy ISO RGD:1353868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11751830 PRKD3 protein kinase D3 gene DOID:630 genetic disease ISO RGD:1353868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751830 PRKD3 protein kinase D3 gene DOID:9004657 Weight Gain ISO RGD:1353868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11751856 VHLL VHL like gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1603820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11751856 VHLL VHL like gene DOID:0111940 immunodeficiency 42 ISO RGD:1603820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11751856 VHLL VHL like gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11751856 VHLL VHL like gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11751856 VHLL VHL like gene DOID:1540 parathyroid carcinoma ISO RGD:1603820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11751856 VHLL VHL like gene DOID:5812 MHC class II deficiency ISO RGD:1603820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11751856 VHLL VHL like gene DOID:630 genetic disease ISO RGD:1603820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751856 VHLL VHL like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11751859 ZNF671 zinc finger protein 671 gene DOID:630 genetic disease ISO RGD:1602675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751875 LOC100980776 olfactory receptor 4E2 gene DOID:630 genetic disease ISO RGD:1352705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751875 LOC100980776 olfactory receptor 4E2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1352705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11751878 SLC27A1 solute carrier family 27 member 1 gene DOID:10603 glucose intolerance ISO RGD:620927 D RGD:9068941 20200609 RGD protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle PMID:15281014|REF_RGD_ID:1642794 11751878 SLC27A1 solute carrier family 27 member 1 gene DOID:1168 familial hyperlipidemia ISO RGD:620927 D RGD:9068941 20200609 RGD protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle PMID:15281014|REF_RGD_ID:1642794 11751878 SLC27A1 solute carrier family 27 member 1 gene DOID:2018 hyperinsulinism ISO RGD:620927 D RGD:9068941 20200609 RGD protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle PMID:15281014|REF_RGD_ID:1642794 11751878 SLC27A1 solute carrier family 27 member 1 gene DOID:5844 myocardial infarction ISO RGD:620927 D RGD:9068941 20200609 RGD protein:decreased expression:infarcted heart PMID:17034771|REF_RGD_ID:1642800 11751878 SLC27A1 solute carrier family 27 member 1 gene DOID:630 genetic disease ISO RGD:1604940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751878 SLC27A1 solute carrier family 27 member 1 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:1553168 D RGD:9068941 20200609 RGD DNA:gene knockout::Slc27a1-/- mice resistant to diet-induced obesity and metabolic syndrome PMID:16611988|REF_RGD_ID:1642790 11751878 SLC27A1 solute carrier family 27 member 1 gene DOID:9007692 Insulin Resistance ISO RGD:620927 D RGD:9068941 20200609 RGD protein::heart:basal level increased but unresponsive to insulin on a high cholesterol, high fructose diet PMID:17400720|REF_RGD_ID:1642795 11751878 SLC27A1 solute carrier family 27 member 1 gene DOID:9970 obesity ISO RGD:620927 D RGD:9068941 20200609 RGD protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle PMID:15281014|REF_RGD_ID:1642794 11751878 SLC27A1 solute carrier family 27 member 1 gene DOID:9970 obesity susceptibility ISO RGD:1553168 D RGD:9068941 20200609 RGD DNA:gene knockout::Slc27a1-/- mice resistant to diet-induced obesity and metabolic syndrome PMID:16611988|REF_RGD_ID:1642790 11751913 PPM1E protein phosphatase, Mg2+/Mn2+ dependent 1E gene DOID:0050436 mulibrey nanism ISO RGD:1350294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mulibrey nanism syndrome PMID:25741868 11751913 PPM1E protein phosphatase, Mg2+/Mn2+ dependent 1E gene DOID:0050777 Joubert syndrome ISO RGD:1350294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11751913 PPM1E protein phosphatase, Mg2+/Mn2+ dependent 1E gene DOID:630 genetic disease ISO RGD:1350294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751913 PPM1E protein phosphatase, Mg2+/Mn2+ dependent 1E gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 11751925 ZNF143 zinc finger protein 143 gene DOID:630 genetic disease ISO RGD:1313824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751950 FUT4 fucosyltransferase 4 gene DOID:0060903 thrombosis ISO RGD:1342617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16932337 11751950 FUT4 fucosyltransferase 4 gene DOID:1059 intellectual disability ISO RGD:1342617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11751950 FUT4 fucosyltransferase 4 gene DOID:12704 ataxia telangiectasia ISO RGD:1342617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11751950 FUT4 fucosyltransferase 4 gene DOID:630 genetic disease ISO RGD:1342617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751955 DUSP4 dual specificity phosphatase 4 gene DOID:630 genetic disease ISO RGD:1348525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751955 DUSP4 dual specificity phosphatase 4 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1348525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11751963 PPWD1 peptidylprolyl isomerase domain and WD repeat containing 1 gene DOID:630 genetic disease ISO RGD:1601770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11751963 PPWD1 peptidylprolyl isomerase domain and WD repeat containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11751986 RADIL Rap associating with DIL domain gene DOID:11372 megacolon ISO RGD:1604337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11751986 RADIL Rap associating with DIL domain gene DOID:630 genetic disease ISO RGD:1604337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11752023 PLCG2 phospholipase C gamma 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:732989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28067908 11752023 PLCG2 phospholipase C gamma 2 gene DOID:0090061 familial cold autoinflammatory syndrome ISO RGD:732989 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome PMID:25741868 11752023 PLCG2 phospholipase C gamma 2 gene DOID:0090064 familial cold autoinflammatory syndrome 3 ISO RGD:732989 D RGD:7240710 20180130 OMIM 11752023 PLCG2 phospholipase C gamma 2 gene DOID:0090064 familial cold autoinflammatory syndrome 3 ISO RGD:732989 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3 PMID:16199547|PMID:17576681|PMID:22236196|PMID:24033266|PMID:24869598|PMID:25640679|PMID:25741868|PMID:27577878|PMID:28166811|PMID:28492532|PMID:29590070|PMID:29921932|PMID:30273710|PMID:30344948|PMID:30619256|PMID:31853824|PMID:32047491|PMID:33859323|PMID:9536098 11752023 PLCG2 phospholipase C gamma 2 gene DOID:10652 Alzheimer's disease ISO RGD:732989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28714976 11752023 PLCG2 phospholipase C gamma 2 gene DOID:630 genetic disease ISO RGD:732989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11752023 PLCG2 phospholipase C gamma 2 gene DOID:9000972 Fever ISO RGD:732989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic fever 11752023 PLCG2 phospholipase C gamma 2 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:732989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia PMID:24869598|PMID:28492532 11752023 PLCG2 phospholipase C gamma 2 gene DOID:9005237 Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated ISO RGD:732989 D RGD:7240710 20180130 OMIM 11752023 PLCG2 phospholipase C gamma 2 gene DOID:9005237 Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated ISO RGD:732989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoinflammation, antibody deficiency, and immune dysregulation syndrome | ClinVar Annotator: match by term: Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated PMID:23000145|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30619256|PMID:34298581 11752023 PLCG2 phospholipase C gamma 2 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:732989 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED PMID:24033266|PMID:25741868|PMID:28492532|PMID:30619256 11752066 GMPPB GDP-mannose pyrophosphorylase B gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1607035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11752066 GMPPB GDP-mannose pyrophosphorylase B gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1607035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 11752066 GMPPB GDP-mannose pyrophosphorylase B gene DOID:0110294 autosomal recessive limb-girdle muscular dystrophy type 2T ISO RGD:1607035 D RGD:7240710 20180130 OMIM 11752066 GMPPB GDP-mannose pyrophosphorylase B gene DOID:0110294 autosomal recessive limb-girdle muscular dystrophy type 2T ISO RGD:1607035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2T | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C14 PMID:19901254|PMID:23768512|PMID:23894383|PMID:24033266|PMID:24780531|PMID:25326637|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:27147698|PMID:27527004|PMID:27766311|PMID:27874200|PMID:28433477|PMID:28456886|PMID:28478914|PMID:28492532|PMID:28554332|PMID:28877744|PMID:28914264|PMID:29437916|PMID:30060766|PMID:30069288|PMID:30257713|PMID:30684953|PMID:31980526|PMID:32115343|PMID:32403337|PMID:32404165|PMID:34008892|PMID:34106991|PMID:35006422 11752066 GMPPB GDP-mannose pyrophosphorylase B gene DOID:0111233 congenital muscular dystrophy-dystroglycanopathy A14 ISO RGD:1607035 D RGD:7240710 20180130 OMIM 11752066 GMPPB GDP-mannose pyrophosphorylase B gene DOID:0111233 congenital muscular dystrophy-dystroglycanopathy A14 ISO RGD:1607035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 PMID:16199547|PMID:17576681|PMID:19901254|PMID:23768512|PMID:23894383|PMID:24033266|PMID:24780531|PMID:25326637|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:26467025|PMID:27147698|PMID:27527004|PMID:27766311|PMID:27874200|PMID:28433477|PMID:28456886|PMID:28478914|PMID:28492532|PMID:28554332|PMID:28877744|PMID:28914264|PMID:29437916|PMID:30060766|PMID:30069288|PMID:30257713|PMID:30684953|PMID:31211170|PMID:31980526|PMID:32056211|PMID:32115343|PMID:32403337|PMID:32404165|PMID:33756069|PMID:34008892|PMID:34106991|PMID:35006422|PMID:9536098 11752066 GMPPB GDP-mannose pyrophosphorylase B gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1607035 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:25741868 11752066 GMPPB GDP-mannose pyrophosphorylase B gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1607035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 11752066 GMPPB GDP-mannose pyrophosphorylase B gene DOID:0112374 muscular dystrophy-dystroglycanopathy ISO RGD:1607035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy PMID:23768512|PMID:25326637|PMID:25741868|PMID:26310427|PMID:27766311|PMID:28492532|PMID:29437916|PMID:30257713|PMID:30684953|PMID:32403337|PMID:32404165 11752066 GMPPB GDP-mannose pyrophosphorylase B gene DOID:0112377 muscular dystrophy-dystroglycanopathy type B14 ISO RGD:1607035 D RGD:7240710 20180130 OMIM 11752066 GMPPB GDP-mannose pyrophosphorylase B gene DOID:0112377 muscular dystrophy-dystroglycanopathy type B14 ISO RGD:1607035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 PMID:19901254|PMID:23768512|PMID:23894383|PMID:24033266|PMID:24780531|PMID:25326637|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:27147698|PMID:27766311|PMID:27874200|PMID:28478914|PMID:28492532|PMID:28554332|PMID:28877744|PMID:29437916|PMID:30257713|PMID:30684953|PMID:31980526|PMID:32115343|PMID:32403337|PMID:32404165|PMID:34008892|PMID:34106991|PMID:35006422 11752066 GMPPB GDP-mannose pyrophosphorylase B gene DOID:630 genetic disease ISO RGD:1607035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23768512|PMID:23894383|PMID:24033266|PMID:24780531|PMID:25326637|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:26467025|PMID:27147698|PMID:27766311|PMID:27874200|PMID:28433477|PMID:28478914|PMID:28492532|PMID:28554332|PMID:28877744|PMID:29437916|PMID:30257713|PMID:30684953|PMID:31211170|PMID:31980526|PMID:32115343|PMID:32403337|PMID:32404165|PMID:34008892|PMID:34106991|PMID:35006422|PMID:9536098 11752066 GMPPB GDP-mannose pyrophosphorylase B gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1607035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11752066 GMPPB GDP-mannose pyrophosphorylase B gene DOID:9008086 Developmental Disabilities ISO RGD:1607035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11752066 GMPPB GDP-mannose pyrophosphorylase B gene DOID:9884 muscular dystrophy ISO RGD:1607035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:23768512|PMID:24033266|PMID:24780531|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:27147698|PMID:27527004|PMID:27766311|PMID:27874200|PMID:28433477|PMID:28456886|PMID:28478914|PMID:28492532|PMID:29437916|PMID:30060766|PMID:30069288|PMID:30257713|PMID:30684953|PMID:32115343|PMID:34106991|PMID:35006422 11752081 L3MBTL4 L3MBTL histone methyl-lysine binding protein 4 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1353313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11752081 L3MBTL4 L3MBTL histone methyl-lysine binding protein 4 gene DOID:1059 intellectual disability ISO RGD:1353313 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11752081 L3MBTL4 L3MBTL histone methyl-lysine binding protein 4 gene DOID:11372 megacolon ISO RGD:1353313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11752081 L3MBTL4 L3MBTL histone methyl-lysine binding protein 4 gene DOID:630 genetic disease ISO RGD:1353313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11752104 UPF3A UPF3A regulator of nonsense mediated mRNA decay gene DOID:2222 factor X deficiency ISO RGD:1318748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 11752104 UPF3A UPF3A regulator of nonsense mediated mRNA decay gene DOID:630 genetic disease ISO RGD:1318748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11752117 SRRM2 serine/arginine repetitive matrix 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1320904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11752117 SRRM2 serine/arginine repetitive matrix 2 gene DOID:14330 Parkinson's disease ISO RGD:1320904 D RGD:9068941 20200609 RGD mRNA:splice variants:substantia nigra, amygdala, peripheral blood mononuclear cell (human) PMID:20161708|REF_RGD_ID:11038728 11752117 SRRM2 serine/arginine repetitive matrix 2 gene DOID:1826 epilepsy ISO RGD:1320904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11752117 SRRM2 serine/arginine repetitive matrix 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1320904 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11752117 SRRM2 serine/arginine repetitive matrix 2 gene DOID:630 genetic disease ISO RGD:1320904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11752117 SRRM2 serine/arginine repetitive matrix 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11752181 POU2AF3 POU class 2 homeobox associating factor 3 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:2798065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 11752181 POU2AF3 POU class 2 homeobox associating factor 3 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:2798065 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 11752181 POU2AF3 POU class 2 homeobox associating factor 3 gene DOID:1059 intellectual disability ISO RGD:2798065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11752181 POU2AF3 POU class 2 homeobox associating factor 3 gene DOID:12704 ataxia telangiectasia ISO RGD:2798065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11752181 POU2AF3 POU class 2 homeobox associating factor 3 gene DOID:630 genetic disease ISO RGD:2798065 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11752181 POU2AF3 POU class 2 homeobox associating factor 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:2798065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11752181 POU2AF3 POU class 2 homeobox associating factor 3 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:2798065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 11752195 CHKA choline kinase alpha gene DOID:0050912 colon adenoma ISO RGD:1604072 D RGD:9068941 20200609 RGD protein:increased expression:colonic mucosa (human) PMID:10363580|REF_RGD_ID:10401945 11752195 CHKA choline kinase alpha gene DOID:0080016 spina bifida ISO RGD:1604072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17184542 11752195 CHKA choline kinase alpha gene DOID:1059 intellectual disability ISO RGD:1604072 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:35202461 11752195 CHKA choline kinase alpha gene DOID:10907 microcephaly ISO RGD:1604072 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:35202461 11752195 CHKA choline kinase alpha gene DOID:1826 epilepsy ISO RGD:1604072 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:35202461 11752195 CHKA choline kinase alpha gene DOID:219 colon cancer ISO RGD:61944 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:colon (rat) PMID:10622531|REF_RGD_ID:10401869 11752195 CHKA choline kinase alpha gene DOID:224 transient cerebral ischemia ISO RGD:61944 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex (rat) PMID:16300643|REF_RGD_ID:10401831 11752195 CHKA choline kinase alpha gene DOID:630 genetic disease ISO RGD:1604072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11752195 CHKA choline kinase alpha gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1604072 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11752195 CHKA choline kinase alpha gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1604072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11752223 LIX1L limb and CNS expressed 1 like gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1350339 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 11752223 LIX1L limb and CNS expressed 1 like gene DOID:1540 parathyroid carcinoma ISO RGD:1350339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11752223 LIX1L limb and CNS expressed 1 like gene DOID:5419 schizophrenia ISO RGD:1350339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11752223 LIX1L limb and CNS expressed 1 like gene DOID:630 genetic disease ISO RGD:1350339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11752223 LIX1L limb and CNS expressed 1 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11752233 PTDSS2 phosphatidylserine synthase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1317384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11752233 PTDSS2 phosphatidylserine synthase 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:1317384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11752233 PTDSS2 phosphatidylserine synthase 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1317384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11752233 PTDSS2 phosphatidylserine synthase 2 gene DOID:630 genetic disease ISO RGD:1317384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11752257 ARHGAP31 Rho GTPase activating protein 31 gene DOID:0060227 Adams-Oliver syndrome ISO RGD:1606256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome PMID:28492532 11752257 ARHGAP31 Rho GTPase activating protein 31 gene DOID:0080600 COVID-19 ISO RGD:1606256 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11752257 ARHGAP31 Rho GTPase activating protein 31 gene DOID:1969 cerebral palsy ISO RGD:1606256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 11752257 ARHGAP31 Rho GTPase activating protein 31 gene DOID:630 genetic disease ISO RGD:1606256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11752257 ARHGAP31 Rho GTPase activating protein 31 gene DOID:9004220 Adams-Oliver Syndrome 1 ISO RGD:1606256 D RGD:7240710 20190315 OMIM 11752257 ARHGAP31 Rho GTPase activating protein 31 gene DOID:9004220 Adams-Oliver Syndrome 1 ISO RGD:1606256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 1 PMID:16451141|PMID:21565291|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29924900|PMID:474617 11752295 OVCA2 OVCA2 serine hydrolase domain containing gene DOID:2394 ovarian cancer ISO RGD:1603916 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary PMID:8616839|REF_RGD_ID:2302168 11752295 OVCA2 OVCA2 serine hydrolase domain containing gene DOID:630 genetic disease ISO RGD:1603916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11752309 SLC46A3 solute carrier family 46 member 3 gene DOID:10283 prostate cancer ISO RGD:1606669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11752309 SLC46A3 solute carrier family 46 member 3 gene DOID:630 genetic disease ISO RGD:1606669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11752324 MYOT myotilin gene DOID:0050700 cardiomyopathy ISO RGD:1321551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 11752324 MYOT myotilin gene DOID:0060224 atrial fibrillation ISO RGD:1321551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 11752324 MYOT myotilin gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1321551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11752324 MYOT myotilin gene DOID:0080091 spheroid body myopathy ISO RGD:1321551 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MYOPATHY, SPHEROID BODY | ClinVar Annotator: match by term: Spheroid body myopathy PMID:12428213|PMID:15111675|PMID:15947064|PMID:16684602|PMID:16793270|PMID:17784878|PMID:17931355|PMID:18653338|PMID:19225410|PMID:19240791|PMID:19590214|PMID:21361873|PMID:21676617|PMID:22021208|PMID:22349301|PMID:25208129|PMID:25741868|PMID:26257771|PMID:26342832|PMID:26467025|PMID:26842778|PMID:27618136|PMID:27854214|PMID:28492532|PMID:30055862|PMID:31404076|PMID:31407473|PMID:32041727|PMID:32419263|PMID:9027924 11752324 MYOT myotilin gene DOID:0080094 myofibrillar myopathy 3 ISO RGD:1321551 D RGD:7240710 20180130 OMIM 11752324 MYOT myotilin gene DOID:0080094 myofibrillar myopathy 3 ISO RGD:1321551 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 3 | ClinVar Annotator: match by term: Urinary bladder sphincter dysfunction PMID:10958653|PMID:12428213|PMID:15111675|PMID:15947064|PMID:1598902|PMID:16199547|PMID:16380616|PMID:16684602|PMID:16793270|PMID:16801328|PMID:17221859|PMID:17576681|PMID:17784878|PMID:17931355|PMID:18335471|PMID:18414213|PMID:18653338|PMID:19225410|PMID:19240791|PMID:19590214|PMID:20301672|PMID:20981092|PMID:21336781|PMID:21361873|PMID:21676617|PMID:22021208|PMID:22106715|PMID:22349301|PMID:22995991|PMID:24033266|PMID:24781192|PMID:25208129|PMID:25617006|PMID:25741868|PMID:26257771|PMID:26342832|PMID:26467025|PMID:26842778|PMID:27618136|PMID:27854214|PMID:27884173|PMID:28403181|PMID:28492532|PMID:30055862|PMID:31404076|PMID:31407473|PMID:32041727|PMID:32419263|PMID:32528171|PMID:3275904|PMID:571956|PMID:9027924|PMID:9536098 11752324 MYOT myotilin gene DOID:0080307 myofibrillar myopathy ISO RGD:1321551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant | ClinVar Annotator: match by term: Myofibrillar myopathy PMID:15111675|PMID:15947064|PMID:16684602|PMID:16793270|PMID:17784878|PMID:17931355|PMID:19225410|PMID:19590214|PMID:21361873|PMID:21676617|PMID:22021208|PMID:22349301|PMID:25741868|PMID:26467025|PMID:26842778|PMID:27618136|PMID:28492532|PMID:32041727 11752324 MYOT myotilin gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321551 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11752324 MYOT myotilin gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1321551 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 11752324 MYOT myotilin gene DOID:10283 prostate cancer ISO RGD:1321551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11752324 MYOT myotilin gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1321551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Dominant PMID:25741868|PMID:26467025|PMID:28492532 11752324 MYOT myotilin gene DOID:574 peripheral nervous system disease ISO RGD:1321551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15111675 11752324 MYOT myotilin gene DOID:6000 congestive heart failure ISO RGD:1321551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart failure PMID:19240791|PMID:25741868|PMID:26257771|PMID:26467025|PMID:28492532|PMID:31404076 11752324 MYOT myotilin gene DOID:630 genetic disease ISO RGD:1321551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11752324 MYOT myotilin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11752324 MYOT myotilin gene DOID:9005532 Muscle Weakness ISO RGD:1321551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness 11752324 MYOT myotilin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 11752324 MYOT myotilin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321551 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11752324 MYOT myotilin gene DOID:9884 muscular dystrophy ISO RGD:1321551 D RGD:9068941 20200609 RGD Limb-Girdle Muscular Dystrophy LGMD1A, OMIM:159000 PMID:10958653|REF_RGD_ID:1599673 11752353 PPFIA3 PTPRF interacting protein alpha 3 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1312318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11752353 PPFIA3 PTPRF interacting protein alpha 3 gene DOID:0111076 progressive familial heart block type IB ISO RGD:1312318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:28492532 11752353 PPFIA3 PTPRF interacting protein alpha 3 gene DOID:630 genetic disease ISO RGD:1312318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:0080158 herpes simplex virus keratitis susceptibility ISO RGD:1313965 D RGD:9068941 20200609 RGD PMID:17266445|REF_RGD_ID:8661706 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:0080162 lupus nephritis ISO RGD:1313965 D RGD:9068941 20200609 RGD PMID:20980973|REF_RGD_ID:6893449 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:0080745 polymyositis susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs7582694) (human) PMID:24632671|REF_RGD_ID:8661720 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:0111944 immunodeficiency 31B ISO RGD:1313964 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:22651901|PMID:28492532 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:10223 dermatomyositis ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP: :rs7574865 (human) PMID:22402141|REF_RGD_ID:8661693 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:12236 primary biliary cholangitis ISO RGD:1313964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21399635 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:12236 primary biliary cholangitis no_association ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNPs:3'utr: (rs7574865, rs8179673, rs10181656) (human) PMID:24648611|REF_RGD_ID:25671415 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP: intron: (rs7574865) (human) PMID:28395724|REF_RGD_ID:25671416 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:multiple PMID:24648611|REF_RGD_ID:25671415 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD associated with Crohn���s disease; DNA:SNP:intron: (rs7574865) (human) PMID:26084578|REF_RGD_ID:25671421 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:12297 Vogt-Koyanagi-Harada disease ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP: :rs7574865 (human) PMID:20438790|REF_RGD_ID:8661713 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:12361 Graves' disease ISO RGD:1313965 D RGD:9068941 20200609 RGD PMID:16195404|REF_RGD_ID:7207875 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:12894 Sjogren's syndrome ISO RGD:1313964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097066|PMID:24097067 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:12894 Sjogren's syndrome no_association ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs7574865) (human) PMID:20360187|REF_RGD_ID:8661709 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:12894 Sjogren's syndrome susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs7574865) (human) PMID:18273036|REF_RGD_ID:8661708 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:12894 Sjogren's syndrome susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs7582694) (human) PMID:20535138|REF_RGD_ID:8661690 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:13241 Behcet's disease ISO RGD:1313964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23291587 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:13241 Behcet's disease ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP: :rs7574865 (human) PMID:20438790|REF_RGD_ID:8661713 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:13241 Behcet's disease ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNPs: :rs897200, rs7572482, rs7574070 (human) PMID:23001997|REF_RGD_ID:8661718 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:1577 limited scleroderma no_association ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNPs:introns: (rs10168266, rs3821236) (human) PMID:23755762|REF_RGD_ID:8661701 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:1577 limited scleroderma susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs7574865) (human) PMID:19286670|PMID:23755762|REF_RGD_ID:8661701|REF_RGD_ID:8661714 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:1580 diffuse scleroderma no_association ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs3821236) (human) PMID:23755762|REF_RGD_ID:8661701 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:1580 diffuse scleroderma no_association ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs7574865) (human) PMID:19286670|REF_RGD_ID:8661714 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:1580 diffuse scleroderma susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:introns: (rs7574865, rs10168266) (human) PMID:23755762|REF_RGD_ID:8661701 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:1884 viral hepatitis susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver, inflammatory cell (human) PMID:24731448|REF_RGD_ID:25671417 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:1996 rectum adenocarcinoma ISO RGD:1313964 D RGD:9068941 20220812 RGD DNA:SNP:intron: (rs3024861) (human) PMID:22121102|REF_RGD_ID:153323313 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:2043 hepatitis B ISO RGD:1313964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27444301 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:2048 autoimmune hepatitis susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNPs: intron 3, intron: (rs7574865, rs7582694) (human) PMID:23990947|PMID:28977835|REF_RGD_ID:25671418|REF_RGD_ID:25671419 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:2377 multiple sclerosis ISO RGD:1313964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24076602 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:2841 asthma ISO RGD:1313964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28807506 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:2841 asthma treatment ISO RGD:1305747 D RGD:9068941 20220812 RGD PMID:18211752|REF_RGD_ID:2317290 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP: :rs7561832 (human) PMID:20045654|REF_RGD_ID:7207872 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:2986 IgA glomerulonephritis no_association ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron:c.274-28828C>G (rs10181656) (human) PMID:20479942|REF_RGD_ID:7207878 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1305747 D RGD:9068941 20220812 RGD protein:increased expression:lung PMID:24321062|REF_RGD_ID:8661725 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:3717 gastric adenocarcinoma ISO RGD:1313964 D RGD:9068941 20220812 RGD mRNA:increased expression:stomach (human) PMID:33042401|REF_RGD_ID:153298934 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:418 systemic scleroderma ISO RGD:1313964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20383147 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:418 systemic scleroderma susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs11889341) (human) PMID:19950257|REF_RGD_ID:8661711 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:418 systemic scleroderma susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs7574865) (human) PMID:19644887|REF_RGD_ID:8661700 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:630 genetic disease ISO RGD:1313964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1313964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23242368 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD Hepatitis B, Chronic; DNA:SNP: intron 3: (rs7574865) (human) PMID:26745093|REF_RGD_ID:11553302 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1313964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:8541 Sezary's disease ISO RGD:1313964 D RGD:9068941 20200609 RGD PMID:16403914|REF_RGD_ID:8661723 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:869 cholesteatoma ISO RGD:1313964 D RGD:9068941 20200609 RGD PMID:24321752|REF_RGD_ID:8661722 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:8704 genital herpes severity ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :multiple PMID:22718836|REF_RGD_ID:8661697 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:8704 genital herpes treatment ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs7572482 (human) PMID:22718836|REF_RGD_ID:8661697 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:8893 psoriasis susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS3 (rs7574865) (human) PMID:19500629|REF_RGD_ID:8661715 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:9002174 Disease Susceptibility ISO RGD:1313964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27444301 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:9002514 Neointima treatment ISO RGD:1305747 D RGD:9068941 20220812 RGD associated with Carotid Artery Injuries PMID:16118253|REF_RGD_ID:5509614 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1305747 D RGD:9068941 20220812 RGD PMID:11240014|REF_RGD_ID:7207888 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:9003870 Herpes Simplex Encephalitis susceptibility ISO RGD:1313965 D RGD:9068941 20200609 RGD PMID:17266445|REF_RGD_ID:8661706 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:9004283 Transplant Rejection ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP: :rs7574865 (human) PMID:21237270|REF_RGD_ID:7207871 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:9004484 Sepsis ISO RGD:1313965 D RGD:9068941 20200609 RGD PMID:11257135|REF_RGD_ID:7207876 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:9004874 Dermal Fibrosis ISO RGD:1313965 D RGD:9068941 20200609 RGD PMID:21360510|REF_RGD_ID:8661691 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:9005005 Oral Ulcer ISO RGD:1313964 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;DNA:SNP:intron:c.274-23582A>C (rs7574865) (human) PMID:21719445|REF_RGD_ID:5147916 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1313965 D RGD:9068941 20200609 RGD PMID:10553062|REF_RGD_ID:7207889 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:1305747 D RGD:9068941 20220812 RGD PMID:18296740|REF_RGD_ID:7207884 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:9007356 Eczema ISO RGD:1313964 D RGD:9068941 20200609 RGD PMID:22192168|REF_RGD_ID:6893665 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1313965 D RGD:9068941 20200609 RGD mRNA:increased expression:liver, macrophage (mouse) PMID:23876342|REF_RGD_ID:25671422 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:1313965 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver, inflammatory cell (mouse) PMID:24731448|REF_RGD_ID:25671417 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:9008 psoriatic arthritis ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP: :rs10181656 (human) PMID:22328738|REF_RGD_ID:8661724 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:multiple PMID:25829184|REF_RGD_ID:25671420 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:1313964 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 11 PMID:17804842|PMID:19109131|PMID:19838193|PMID:19838195|PMID:25741868 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:9074 systemic lupus erythematosus onset ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron:c.274-23582A>C (rs7574865) (human) PMID:23049788|REF_RGD_ID:7207877 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1313964 D RGD:7240710 20190502 OMIM 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:9074 systemic lupus erythematosus treatment ISO RGD:1313965 D RGD:9068941 20200609 RGD PMID:16920939|REF_RGD_ID:7207874 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:9111 cutaneous leishmaniasis ISO RGD:1313965 D RGD:9068941 20200609 RGD PMID:10458767|REF_RGD_ID:8661703 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:9146 visceral leishmaniasis ISO RGD:1313965 D RGD:9068941 20200609 RGD PMID:24242758|REF_RGD_ID:8661696 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:9452 fatty liver disease ISO RGD:1313965 D RGD:9068941 20200609 RGD PMID:16799967|REF_RGD_ID:25671424 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1313965 D RGD:9068941 20220825 MouseDO OMIM:222100 11752412 STAT4 signal transducer and activator of transcription 4 gene DOID:9970 obesity treatment ISO RGD:1305747 D RGD:9068941 20220812 RGD PMID:20978234|REF_RGD_ID:5509594 11752450 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:730838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 11752450 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:1210 optic neuritis ISO RGD:730839 D RGD:9068941 20200609 RGD associated with Encephalomyelitis, Autoimmune, Experimental;protein:altered expression:optic II nerve PMID:20151287|REF_RGD_ID:5686855 11752450 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:12849 autistic disorder ISO RGD:730839 D RGD:9068941 20200609 RGD protein:increased expression:cingulate cortex PMID:21575186|REF_RGD_ID:5686862 11752450 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:1826 epilepsy ISO RGD:730838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11752450 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:2316 brain ischemia ISO RGD:619942 D RGD:9068941 20200609 RGD PMID:21864831|REF_RGD_ID:5686850 11752450 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:730838 D RGD:9068941 20200609 RGD PMID:10976643|REF_RGD_ID:5686865 11752450 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:2717 Bloom syndrome ISO RGD:730838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11752450 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:3213 demyelinating disease ISO RGD:730839 D RGD:9068941 20200609 RGD PMID:22078261|REF_RGD_ID:5686845 11752450 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:3613 Canavan disease ISO RGD:733059 D RGD:9068941 20200609 RGD PMID:19739253|REF_RGD_ID:5686858 11752450 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:5419 schizophrenia ISO RGD:730838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11752450 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:630 genetic disease ISO RGD:730838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11752450 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:684 hepatocellular carcinoma ISO RGD:730838 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11752450 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:619942 D RGD:9068941 20200609 RGD PMID:22042562|REF_RGD_ID:5686848 11752450 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:730838 D RGD:9068941 20200609 RGD PMID:19604403|REF_RGD_ID:5686859 11752450 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:730839 D RGD:9068941 20200609 RGD PMID:22243800|REF_RGD_ID:5686844 11752450 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:9000998 Brain Injuries ISO RGD:619942 D RGD:9068941 20200609 RGD protein:altered expression:cerebral cortex PMID:19473238|REF_RGD_ID:5686860 11752450 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:619942 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:20162860|REF_RGD_ID:5686863 11752450 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:730839 D RGD:9068941 20200609 RGD PMID:21679768|REF_RGD_ID:5686852 11752450 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:9004009 Reperfusion Injury ISO RGD:619942 D RGD:9068941 20200609 RGD PMID:17565360|REF_RGD_ID:5686869 11752450 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:9007096 Stroke ISO RGD:619942 D RGD:9068941 20200609 RGD PMID:21951366|REF_RGD_ID:5686849 11752450 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:9256 colorectal cancer ISO RGD:730838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11752450 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:9952 acute lymphoblastic leukemia severity ISO RGD:730838 D RGD:9068941 20200609 RGD PMID:8562939|REF_RGD_ID:734840 11752464 FAU FAU ubiquitin like and ribosomal protein S30 fusion gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1351680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11752464 FAU FAU ubiquitin like and ribosomal protein S30 fusion gene DOID:1059 intellectual disability ISO RGD:1351680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11752464 FAU FAU ubiquitin like and ribosomal protein S30 fusion gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1351680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11752464 FAU FAU ubiquitin like and ribosomal protein S30 fusion gene DOID:2746 glycogen storage disease V ISO RGD:1351680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11752464 FAU FAU ubiquitin like and ribosomal protein S30 fusion gene DOID:3070 high grade glioma ISO RGD:1351680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11752464 FAU FAU ubiquitin like and ribosomal protein S30 fusion gene DOID:630 genetic disease ISO RGD:1351680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11752473 RFX3 regulatory factor X3 gene DOID:0050545 visceral heterotaxy ISO RGD:1317169 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 11752473 RFX3 regulatory factor X3 gene DOID:0060041 autism spectrum disorder ISO RGD:1317168 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11752473 RFX3 regulatory factor X3 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1317168 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 11752473 RFX3 regulatory factor X3 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1317168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:25741868 11752473 RFX3 regulatory factor X3 gene DOID:37 skin disease ISO RGD:1317168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11752473 RFX3 regulatory factor X3 gene DOID:630 genetic disease ISO RGD:1317168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11752473 RFX3 regulatory factor X3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11752473 RFX3 regulatory factor X3 gene DOID:9007964 Arsenic Poisoning ISO RGD:1317168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11752473 RFX3 regulatory factor X3 gene DOID:9008582 Developmental Disease ISO RGD:1317168 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11752513 PTPN1 protein tyrosine phosphatase non-receptor type 1 gene DOID:10763 hypertension ISO RGD:1343639 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28899902 11752513 PTPN1 protein tyrosine phosphatase non-receptor type 1 gene DOID:1206 Rett syndrome ISO RGD:1343639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26214522 11752513 PTPN1 protein tyrosine phosphatase non-receptor type 1 gene DOID:2018 hyperinsulinism ISO RGD:1343639 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28899902 11752513 PTPN1 protein tyrosine phosphatase non-receptor type 1 gene DOID:630 genetic disease ISO RGD:1343639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11752513 PTPN1 protein tyrosine phosphatase non-receptor type 1 gene DOID:707 B-cell lymphoma ISO RGD:1343639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24531327 11752513 PTPN1 protein tyrosine phosphatase non-receptor type 1 gene DOID:8567 Hodgkin's lymphoma ISO RGD:1343639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24531327 11752513 PTPN1 protein tyrosine phosphatase non-receptor type 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26739621 11752513 PTPN1 protein tyrosine phosphatase non-receptor type 1 gene DOID:9005372 Inflammation ISO RGD:1343639 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28899902 11752513 PTPN1 protein tyrosine phosphatase non-receptor type 1 gene DOID:9007692 Insulin Resistance ISO RGD:1343639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Insulin resistance, susceptibility to PMID:11833006 11752513 PTPN1 protein tyrosine phosphatase non-receptor type 1 gene DOID:9008299 Mediastinal Neoplasms ISO RGD:1343639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24531327 11752513 PTPN1 protein tyrosine phosphatase non-receptor type 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343639 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 11752513 PTPN1 protein tyrosine phosphatase non-receptor type 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1343639 D RGD:7240710 20230505 OMIM 11752513 PTPN1 protein tyrosine phosphatase non-receptor type 1 gene DOID:9970 obesity ISO RGD:1343639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10744717|PMID:20075852 11752527 GLG1 golgi glycoprotein 1 gene DOID:607 paraplegia ISO RGD:734388 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11752527 GLG1 golgi glycoprotein 1 gene DOID:630 genetic disease ISO RGD:734388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11752527 GLG1 golgi glycoprotein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11752558 GPR161 G protein-coupled receptor 161 gene DOID:0050902 medulloblastoma ISO RGD:1607069 D RGD:7240710 20221102 OMIM 11752558 GPR161 G protein-coupled receptor 161 gene DOID:0050902 medulloblastoma ISO RGD:1607069 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:31609649 11752558 GPR161 G protein-coupled receptor 161 gene DOID:0111942 immunodeficiency 25 ISO RGD:1607069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 11752558 GPR161 G protein-coupled receptor 161 gene DOID:1540 parathyroid carcinoma ISO RGD:1607069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11752558 GPR161 G protein-coupled receptor 161 gene DOID:630 genetic disease ISO RGD:1607069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11752558 GPR161 G protein-coupled receptor 161 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1607069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:23332756|PMID:23806086|PMID:25322266 11752558 GPR161 G protein-coupled receptor 161 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11752584 ARID3C AT-rich interaction domain 3C gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1342507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11752584 ARID3C AT-rich interaction domain 3C gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1342507 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11752584 ARID3C AT-rich interaction domain 3C gene DOID:0080942 anauxetic dysplasia ISO RGD:1342507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11752584 ARID3C AT-rich interaction domain 3C gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1342507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11752584 ARID3C AT-rich interaction domain 3C gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1342507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11752584 ARID3C AT-rich interaction domain 3C gene DOID:630 genetic disease ISO RGD:1342507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11752584 ARID3C AT-rich interaction domain 3C gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1342507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11752584 ARID3C AT-rich interaction domain 3C gene DOID:9562 primary ciliary dyskinesia ISO RGD:1342507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11752584 ARID3C AT-rich interaction domain 3C gene DOID:9870 galactosemia ISO RGD:1342507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11752596 POLA2 DNA polymerase alpha 2, accessory subunit gene DOID:1059 intellectual disability ISO RGD:731623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11752596 POLA2 DNA polymerase alpha 2, accessory subunit gene DOID:1935 Bardet-Biedl syndrome ISO RGD:731623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11752596 POLA2 DNA polymerase alpha 2, accessory subunit gene DOID:2746 glycogen storage disease V ISO RGD:731623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11752596 POLA2 DNA polymerase alpha 2, accessory subunit gene DOID:3070 high grade glioma ISO RGD:731623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11752596 POLA2 DNA polymerase alpha 2, accessory subunit gene DOID:630 genetic disease ISO RGD:731623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11752596 POLA2 DNA polymerase alpha 2, accessory subunit gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:731623 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11752596 POLA2 DNA polymerase alpha 2, accessory subunit gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:731623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11752618 AKTIP AKT interacting protein gene DOID:630 genetic disease ISO RGD:1322487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11752618 AKTIP AKT interacting protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11752650 ZFC3H1 zinc finger C3H1-type containing gene DOID:630 genetic disease ISO RGD:1606690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11752650 ZFC3H1 zinc finger C3H1-type containing gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1606690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11752650 ZFC3H1 zinc finger C3H1-type containing gene DOID:9007661 Dwarfism ISO RGD:1606690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11752689 COL11A1 collagen type XI alpha 1 chain gene DOID:0060465 fibrochondrogenesis ISO RGD:735396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:28492532|PMID:32427345|PMID:32756486 11752689 COL11A1 collagen type XI alpha 1 chain gene DOID:0080046 Stickler syndrome ISO RGD:735396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stickler Syndrome, Dominant PMID:10486316|PMID:10573014|PMID:20513134|PMID:25240749|PMID:25741868|PMID:28492532 11752689 COL11A1 collagen type XI alpha 1 chain gene DOID:0080672 fibrochondrogenesis 1 ISO RGD:735396 D RGD:7240710 20230505 OMIM 11752689 COL11A1 collagen type XI alpha 1 chain gene DOID:0080672 fibrochondrogenesis 1 ISO RGD:735396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis 1 PMID:10486316|PMID:16199547|PMID:17236192|PMID:17576681|PMID:17999364|PMID:20513134|PMID:21035103|PMID:23922384|PMID:23967202|PMID:25240749|PMID:25741868|PMID:26377240|PMID:26467025|PMID:28492532|PMID:30245029|PMID:32427345|PMID:32756486|PMID:9536098 11752689 COL11A1 collagen type XI alpha 1 chain gene DOID:0080675 Stickler syndrome 2 ISO RGD:735396 D RGD:7240710 20230505 OMIM 11752689 COL11A1 collagen type XI alpha 1 chain gene DOID:0080675 Stickler syndrome 2 ISO RGD:735396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stickler syndrome type 2 | ClinVar Annotator: match by term: Stickler syndrome, beaded vitreous type PMID:10486316|PMID:10573014|PMID:10725403|PMID:11668615|PMID:13520885|PMID:16199547|PMID:17236192|PMID:17576681|PMID:17999364|PMID:19449424|PMID:20513134|PMID:21035103|PMID:23922384|PMID:23967202|PMID:25240749|PMID:25326635|PMID:25741868|PMID:26377240|PMID:26467025|PMID:27081549|PMID:27081569|PMID:28492532|PMID:30245029|PMID:30919572|PMID:32427345|PMID:32756486|PMID:8872475|PMID:9129742|PMID:9529347|PMID:9536098|PMID:9792885 11752689 COL11A1 collagen type XI alpha 1 chain gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:735396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type III PMID:25741868 11752689 COL11A1 collagen type XI alpha 1 chain gene DOID:0111510 Marshall syndrome ISO RGD:735396 D RGD:7240710 20230505 OMIM 11752689 COL11A1 collagen type XI alpha 1 chain gene DOID:0111510 Marshall syndrome ISO RGD:735396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, myopia, cataract, saddle nose-Marshall type | ClinVar Annotator: match by term: Marshall syndrome PMID:10486316|PMID:13520885|PMID:16199547|PMID:17236192|PMID:17576681|PMID:17999364|PMID:19449424|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:25741868|PMID:26377240|PMID:26467025|PMID:28492532|PMID:32427345|PMID:32756486|PMID:32963807|PMID:9129742|PMID:9529347|PMID:9536098|PMID:9792885 11752689 COL11A1 collagen type XI alpha 1 chain gene DOID:0111510 Marshall syndrome susceptibility ISO RGD:735396 D RGD:9068941 20230511 RGD DNA:SNP:splice junction: PMID:9529347|REF_RGD_ID:1600881 11752689 COL11A1 collagen type XI alpha 1 chain gene DOID:10003 sensorineural hearing loss ISO RGD:735396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:28492532 11752689 COL11A1 collagen type XI alpha 1 chain gene DOID:12849 autistic disorder ISO RGD:735396 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 11752689 COL11A1 collagen type XI alpha 1 chain gene DOID:13550 angle-closure glaucoma ISO RGD:735396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22922875|PMID:27064256 11752689 COL11A1 collagen type XI alpha 1 chain gene DOID:1826 epilepsy ISO RGD:735396 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11752689 COL11A1 collagen type XI alpha 1 chain gene DOID:2256 osteochondrodysplasia ISO RGD:735396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19638309 11752689 COL11A1 collagen type XI alpha 1 chain gene DOID:5119 ovarian cyst ISO RGD:735396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 11752689 COL11A1 collagen type XI alpha 1 chain gene DOID:630 genetic disease ISO RGD:735396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:13520885|PMID:16199547|PMID:17236192|PMID:19449424|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386|PMID:32427345|PMID:32756486|PMID:9129742|PMID:9529347|PMID:9792885 11752689 COL11A1 collagen type XI alpha 1 chain gene DOID:65 connective tissue disease ISO RGD:735396 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:15922184|PMID:17576681|PMID:17999364|PMID:23967202|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30245029|PMID:30753492|PMID:9536098 11752689 COL11A1 collagen type XI alpha 1 chain gene DOID:7693 abdominal aortic aneurysm ISO RGD:735396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm PMID:17182944 11752689 COL11A1 collagen type XI alpha 1 chain gene DOID:8398 osteoarthritis ISO RGD:735397 D RGD:9068941 20220825 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 11752689 COL11A1 collagen type XI alpha 1 chain gene DOID:9000585 Intervertebral Disc Disease ISO RGD:735396 D RGD:7240710 20230505 OMIM 11752689 COL11A1 collagen type XI alpha 1 chain gene DOID:9000585 Intervertebral Disc Disease ISO RGD:735396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intervertebral disc disease | ClinVar Annotator: match by term: Lumbar disc herniation, susceptibility to PMID:16199547|PMID:17576681|PMID:17999364|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:25741868|PMID:26377240|PMID:28492532|PMID:32427345|PMID:32756486|PMID:9536098 11752689 COL11A1 collagen type XI alpha 1 chain gene DOID:9002069 Autosomal Dominant Nonsyndromic Deafness 37 ISO RGD:735396 D RGD:7240710 20230505 OMIM 11752689 COL11A1 collagen type XI alpha 1 chain gene DOID:9002069 Autosomal Dominant Nonsyndromic Deafness 37 ISO RGD:735396 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 37 PMID:16199547|PMID:17576681|PMID:17999364|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:25741868|PMID:26377240|PMID:28315471|PMID:28492532|PMID:30245514|PMID:30311386|PMID:32427345|PMID:32756486|PMID:33169910|PMID:33605226|PMID:9536098 11752689 COL11A1 collagen type XI alpha 1 chain gene DOID:9003133 Hypertelorism ISO RGD:735396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 11752689 COL11A1 collagen type XI alpha 1 chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735396 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:16199547|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:25741868|PMID:28492532|PMID:32427345|PMID:32756486 11752689 COL11A1 collagen type XI alpha 1 chain gene DOID:9004538 Hearing Loss ISO RGD:735396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30311386|PMID:33169910 11752689 COL11A1 collagen type XI alpha 1 chain gene DOID:9005570 Marshall/Stickler Syndrome ISO RGD:735396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marshall/Stickler syndrome PMID:10486316|PMID:1536174 11752689 COL11A1 collagen type XI alpha 1 chain gene DOID:9006041 Osteoarthritis, Hip ISO RGD:735396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 11752689 COL11A1 collagen type XI alpha 1 chain gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:735396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17999364 11752689 COL11A1 collagen type XI alpha 1 chain gene DOID:9008731 Craniofacial Abnormalities ISO RGD:735396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19638309 11752689 COL11A1 collagen type XI alpha 1 chain gene DOID:936 brain disease ISO RGD:735396 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 4 PMID:25741868|PMID:28492532 11752760 FSHB follicle stimulating hormone subunit beta gene DOID:0090088 hypogonadotropic hypogonadism 24 without anosmia ISO RGD:69084 D RGD:7240710 20180130 OMIM 11752760 FSHB follicle stimulating hormone subunit beta gene DOID:0090088 hypogonadotropic hypogonadism 24 without anosmia ISO RGD:69084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 24 without anosmia PMID:12161499|PMID:20488225|PMID:22791757|PMID:25052309|PMID:25741868|PMID:28392474|PMID:28492532|PMID:32242295|PMID:4344039|PMID:8220432|PMID:9271483|PMID:9280841|PMID:9624193|PMID:9806482 11752760 FSHB follicle stimulating hormone subunit beta gene DOID:1059 intellectual disability ISO RGD:69084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11752760 FSHB follicle stimulating hormone subunit beta gene DOID:12336 male infertility ISO RGD:69084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:387166 11752760 FSHB follicle stimulating hormone subunit beta gene DOID:13938 amenorrhea ISO RGD:69084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8220432 11752760 FSHB follicle stimulating hormone subunit beta gene DOID:13938 amenorrhea ISO RGD:69084 D RGD:9068941 20200609 RGD follicle-stimulating hormone deficiency,OMIM:229070;DNA:frameshift PMID:8220432|REF_RGD_ID:1601221 11752760 FSHB follicle stimulating hormone subunit beta gene DOID:14228 oligospermia ISO RGD:69084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4607150 11752760 FSHB follicle stimulating hormone subunit beta gene DOID:1574 alcohol use disorder ISO RGD:69084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8590623 11752760 FSHB follicle stimulating hormone subunit beta gene DOID:1924 hypogonadism ISO RGD:69084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18449926|PMID:24739304|PMID:8263139 11752760 FSHB follicle stimulating hormone subunit beta gene DOID:2945 severe acute respiratory syndrome ISO RGD:69084 D RGD:9068941 20200609 RGD protein:increased expression:adenohypophysis (human) PMID:20651845|REF_RGD_ID:28711759 11752760 FSHB follicle stimulating hormone subunit beta gene DOID:3522 lateral medullary syndrome ISO RGD:69084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17344003 11752760 FSHB follicle stimulating hormone subunit beta gene DOID:630 genetic disease ISO RGD:69084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11752760 FSHB follicle stimulating hormone subunit beta gene DOID:9000972 Fever ISO RGD:69084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 11752760 FSHB follicle stimulating hormone subunit beta gene DOID:9007456 Female Infertility ISO RGD:69084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8220432 11752775 CTHRC1 collagen triple helix repeat containing 1 gene DOID:0111590 Cohen syndrome ISO RGD:1352911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 11752775 CTHRC1 collagen triple helix repeat containing 1 gene DOID:630 genetic disease ISO RGD:1352911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11752775 CTHRC1 collagen triple helix repeat containing 1 gene DOID:9206 Barrett's esophagus ISO RGD:1352911 D RGD:7240710 20180130 OMIM 11752775 CTHRC1 collagen triple helix repeat containing 1 gene DOID:9206 Barrett's esophagus ISO RGD:1352911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma PMID:21791690 11752792 LOC100984457 putative uncharacterized protein MGC39545 gene DOID:5419 schizophrenia ISO RGD:9585775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11752797 HOOK3 hook microtubule tethering protein 3 gene DOID:0090039 torsion dystonia 6 ISO RGD:1346925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 11752797 HOOK3 hook microtubule tethering protein 3 gene DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 ISO RGD:1346925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 PMID:28492532 11752797 HOOK3 hook microtubule tethering protein 3 gene DOID:0111959 immunodeficiency 15B ISO RGD:1346925 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 11752797 HOOK3 hook microtubule tethering protein 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1346925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11752797 HOOK3 hook microtubule tethering protein 3 gene DOID:630 genetic disease ISO RGD:1346925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11752797 HOOK3 hook microtubule tethering protein 3 gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:1346925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:27726124 11752797 HOOK3 hook microtubule tethering protein 3 gene DOID:9007661 Dwarfism ISO RGD:1346925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11752797 HOOK3 hook microtubule tethering protein 3 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1346925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 11752832 FAM135A family with sequence similarity 135 member A gene DOID:0080198 infantile histiocytoid cardiomyopathy ISO RGD:1312650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Foamy myocardial transformation of infancy 11752832 FAM135A family with sequence similarity 135 member A gene DOID:630 genetic disease ISO RGD:1312650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11752884 COL19A1 collagen type XIX alpha 1 chain gene DOID:0050717 methylmalonic aciduria and homocystinuria type cblF ISO RGD:1318965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF PMID:19136951|PMID:21303734|PMID:28492532 11752884 COL19A1 collagen type XIX alpha 1 chain gene DOID:14330 Parkinson's disease ISO RGD:1318965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 11752884 COL19A1 collagen type XIX alpha 1 chain gene DOID:630 genetic disease ISO RGD:1318965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11752939 TAS2R40 taste 2 receptor member 40 gene DOID:630 genetic disease ISO RGD:1351253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11752945 JAKMIP2 janus kinase and microtubule interacting protein 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605109 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11752945 JAKMIP2 janus kinase and microtubule interacting protein 2 gene DOID:1909 melanoma ISO RGD:1605109 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842228 11752945 JAKMIP2 janus kinase and microtubule interacting protein 2 gene DOID:630 genetic disease ISO RGD:1605109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11752945 JAKMIP2 janus kinase and microtubule interacting protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11752945 JAKMIP2 janus kinase and microtubule interacting protein 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605109 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11752980 SLITRK4 SLIT and NTRK like family member 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11752980 SLITRK4 SLIT and NTRK like family member 4 gene DOID:0080600 COVID-19 ISO RGD:1348582 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11752980 SLITRK4 SLIT and NTRK like family member 4 gene DOID:12849 autistic disorder ISO RGD:1348582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11752980 SLITRK4 SLIT and NTRK like family member 4 gene DOID:630 genetic disease ISO RGD:1348582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11753004 IRX2 iroquois homeobox 2 gene DOID:630 genetic disease ISO RGD:1346652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11753004 IRX2 iroquois homeobox 2 gene DOID:850 lung disease ISO RGD:1346652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21238641 11753009 IRF2BP1 interferon regulatory factor 2 binding protein 1 gene DOID:630 genetic disease ISO RGD:1318010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11753014 CDH19 cadherin 19 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1316200 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11753014 CDH19 cadherin 19 gene DOID:630 genetic disease ISO RGD:1316200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11753014 CDH19 cadherin 19 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11753032 CENPI centromere protein I gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11753032 CENPI centromere protein I gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:733555 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 11753032 CENPI centromere protein I gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:733555 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 11753032 CENPI centromere protein I gene DOID:12849 autistic disorder ISO RGD:733555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11753032 CENPI centromere protein I gene DOID:5426 primary ovarian insufficiency ISO RGD:733555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 11753032 CENPI centromere protein I gene DOID:630 genetic disease ISO RGD:733555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11753032 CENPI centromere protein I gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:733555 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 11753078 CNOT4 CCR4-NOT transcription complex subunit 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11753078 CNOT4 CCR4-NOT transcription complex subunit 4 gene DOID:630 genetic disease ISO RGD:1321153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11753107 FGF10 fibroblast growth factor 10 gene DOID:0050331 LADD syndrome ISO RGD:734330 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: LACRIMOAURICULODENTODIGITAL SYNDROME | ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome PMID:16630169|PMID:17213838|PMID:25741868|PMID:26955834|PMID:28492532 11753107 FGF10 fibroblast growth factor 10 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:734330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11753107 FGF10 fibroblast growth factor 10 gene DOID:0111549 aplasia of lacrimal and salivary glands ISO RGD:734330 D RGD:7240710 20180130 OMIM 11753107 FGF10 fibroblast growth factor 10 gene DOID:0111549 aplasia of lacrimal and salivary glands ISO RGD:734330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aplasia of lacrimal and salivary glands | ClinVar Annotator: match by term: Salivary glands, absence of PMID:15654336|PMID:16630169|PMID:17213838|PMID:25741868|PMID:28492532 11753107 FGF10 fibroblast growth factor 10 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:734330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11753107 FGF10 fibroblast growth factor 10 gene DOID:10486 intestinal atresia ISO RGD:10578 D RGD:9068941 20220825 MouseDO 11753107 FGF10 fibroblast growth factor 10 gene DOID:10533 viral pneumonia treatment ISO RGD:10578 D RGD:9068941 20210611 RGD PMID:27322618|REF_RGD_ID:127284849 11753107 FGF10 fibroblast growth factor 10 gene DOID:10787 premature menopause treatment ISO RGD:10578 D RGD:9068941 20210528 RGD PMID:27679811|REF_RGD_ID:126928135 11753107 FGF10 fibroblast growth factor 10 gene DOID:10892 hypospadias ISO RGD:2606 D RGD:9068941 20200609 RGD PMID:19464577|REF_RGD_ID:2314151 11753107 FGF10 fibroblast growth factor 10 gene DOID:3178 skin papilloma ISO RGD:10578 D RGD:9068941 20210528 RGD protein:increased expression:skin (mouse) PMID:24582960|REF_RGD_ID:126928134 11753107 FGF10 fibroblast growth factor 10 gene DOID:3910 lung adenocarcinoma ISO RGD:734330 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 11753107 FGF10 fibroblast growth factor 10 gene DOID:630 genetic disease ISO RGD:734330 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11753107 FGF10 fibroblast growth factor 10 gene DOID:674 cleft palate ISO RGD:734330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 11753107 FGF10 fibroblast growth factor 10 gene DOID:9000099 Experimental Colitis treatment ISO RGD:2606 D RGD:9068941 20210625 RGD PMID:11952999|REF_RGD_ID:127284874 11753107 FGF10 fibroblast growth factor 10 gene DOID:9000099 Experimental Colitis treatment ISO RGD:734330 D RGD:9068941 20210528 RGD human protein in mouse model PMID:10381813|REF_RGD_ID:126928132 11753107 FGF10 fibroblast growth factor 10 gene DOID:9000099 Experimental Colitis treatment ISO RGD:734330 D RGD:9068941 20210528 RGD human protein in mouse model with bacterial delivery system PMID:19736360|REF_RGD_ID:126928133 11753107 FGF10 fibroblast growth factor 10 gene DOID:9000099 Experimental Colitis treatment ISO RGD:734330 D RGD:9068941 20210611 RGD human gene product in mouse model PMID:23676805|REF_RGD_ID:127284855 11753107 FGF10 fibroblast growth factor 10 gene DOID:9000656 Penetrating Wounds treatment ISO RGD:734330 D RGD:9068941 20210528 RGD human protein in rat model PMID:10417753|REF_RGD_ID:126928129 11753107 FGF10 fibroblast growth factor 10 gene DOID:9000955 Acute Otitis Media ISO RGD:10578 D RGD:9068941 20210611 RGD mRNA:decreased expression:middle ear (mouse) PMID:21889218|REF_RGD_ID:127284853 11753107 FGF10 fibroblast growth factor 10 gene DOID:9002304 Prostatic Neoplasms ISO RGD:734330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743467 11753107 FGF10 fibroblast growth factor 10 gene DOID:9002488 Peritoneal Fibrosis ISO RGD:10578 D RGD:9068941 20210528 RGD mRNA:decreased expression:peritoneum (mouse) PMID:31431501|REF_RGD_ID:126928131 11753107 FGF10 fibroblast growth factor 10 gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:10578 D RGD:9068941 20210528 RGD miR-145 inhibitor PMID:31431501|REF_RGD_ID:126928131 11753107 FGF10 fibroblast growth factor 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11753107 FGF10 fibroblast growth factor 10 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2606 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:18421211|REF_RGD_ID:2292665 11753107 FGF10 fibroblast growth factor 10 gene DOID:9008206 LADD Syndrome 3 ISO RGD:734330 D RGD:7240710 20230125 OMIM 11753107 FGF10 fibroblast growth factor 10 gene DOID:9008206 LADD Syndrome 3 ISO RGD:734330 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 3 PMID:15654336|PMID:16501574|PMID:16630169 11753107 FGF10 fibroblast growth factor 10 gene DOID:9008939 Breast Neoplasms ISO RGD:734330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438407 11753107 FGF10 fibroblast growth factor 10 gene DOID:9296 cleft lip ISO RGD:734330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 11753107 Fgf10 fibroblast growth factor 10 gene DOID:10533 viral pneumonia ISO RGD:10578 D RGD:9068941 20210611 RGD PMID:27322618|REF_RGD_ID:127284849 11753107 Fgf10 fibroblast growth factor 10 gene DOID:3151 skin squamous cell carcinoma ISO RGD:10578 D RGD:9068941 20210528 RGD protein:increased expression:skin (mouse) PMID:24582960|REF_RGD_ID:126928134 11753114 TMPRSS15 transmembrane serine protease 15 gene DOID:0111667 enterokinase deficiency ISO RGD:1322295 D RGD:7240710 20190315 OMIM 11753114 TMPRSS15 transmembrane serine protease 15 gene DOID:0111667 enterokinase deficiency ISO RGD:1322295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Enterokinase deficiency PMID:1147667|PMID:11719902|PMID:16199547|PMID:25741868|PMID:28492532|PMID:4322674 11753114 TMPRSS15 transmembrane serine protease 15 gene DOID:10652 Alzheimer's disease ISO RGD:1322295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 11753114 TMPRSS15 transmembrane serine protease 15 gene DOID:630 genetic disease ISO RGD:1322295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11753114 TMPRSS15 transmembrane serine protease 15 gene DOID:9004324 Congenital, Hereditary, and Neonatal Diseases and Abnormalities ISO RGD:1322295 D RGD:9068941 20200609 RGD PMID:11719902|REF_RGD_ID:1599212 11753114 TMPRSS15 transmembrane serine protease 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11753144 ALDH9A1 aldehyde dehydrogenase 9 family member A1 gene DOID:0080600 COVID-19 ISO RGD:68603 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11753144 ALDH9A1 aldehyde dehydrogenase 9 family member A1 gene DOID:10283 prostate cancer ISO RGD:68603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11753144 ALDH9A1 aldehyde dehydrogenase 9 family member A1 gene DOID:1540 parathyroid carcinoma ISO RGD:68603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11753144 ALDH9A1 aldehyde dehydrogenase 9 family member A1 gene DOID:630 genetic disease ISO RGD:68603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11753144 ALDH9A1 aldehyde dehydrogenase 9 family member A1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:68603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11753144 ALDH9A1 aldehyde dehydrogenase 9 family member A1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:68603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11753159 DHX38 DEAH-box helicase 38 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1321196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11753159 DHX38 DEAH-box helicase 38 gene DOID:0112141 retinitis pigmentosa 84 ISO RGD:1321196 D RGD:7240710 20190315 OMIM 11753159 DHX38 DEAH-box helicase 38 gene DOID:0112141 retinitis pigmentosa 84 ISO RGD:1321196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 84 PMID:24737827|PMID:25741868|PMID:28492532|PMID:30208423 11753159 DHX38 DEAH-box helicase 38 gene DOID:10584 retinitis pigmentosa ISO RGD:1321196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:30208423 11753159 DHX38 DEAH-box helicase 38 gene DOID:630 genetic disease ISO RGD:1321196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11753198 MS4A7 membrane spanning 4-domains A7 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1313641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11753198 MS4A7 membrane spanning 4-domains A7 gene DOID:1059 intellectual disability ISO RGD:1313641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11753198 MS4A7 membrane spanning 4-domains A7 gene DOID:630 genetic disease ISO RGD:1313641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11753222 TRAPPC6A trafficking protein particle complex subunit 6A gene DOID:630 genetic disease ISO RGD:1601965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11753265 IFITM10 interferon induced transmembrane protein 10 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:5132175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11753265 IFITM10 interferon induced transmembrane protein 10 gene DOID:0080773 delta beta-thalassemia ISO RGD:5132175 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11753265 IFITM10 interferon induced transmembrane protein 10 gene DOID:0111969 immunodeficiency 39 ISO RGD:5132175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11753265 IFITM10 interferon induced transmembrane protein 10 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:5132175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11753265 IFITM10 interferon induced transmembrane protein 10 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:5132175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11753265 IFITM10 interferon induced transmembrane protein 10 gene DOID:630 genetic disease ISO RGD:5132175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11753265 IFITM10 interferon induced transmembrane protein 10 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:5132175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11753271 PIGL phosphatidylinositol glycan anchor biosynthesis class L gene DOID:0112152 CHIME syndrome ISO RGD:1342664 D RGD:7240710 20180130 OMIM 11753271 PIGL phosphatidylinositol glycan anchor biosynthesis class L gene DOID:0112152 CHIME syndrome ISO RGD:1342664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHIME syndrome | ClinVar Annotator: match by term: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome | ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 5 | ClinVar Annotator: match by term: Zunich neuroectodermal syndrome PMID:18414213|PMID:22444671|PMID:23561846|PMID:24784135|PMID:25250048|PMID:25741868|PMID:28371479|PMID:28492532|PMID:29473937|PMID:30023290|PMID:3041916|PMID:31535386|PMID:7666399|PMID:8893234 11753271 PIGL phosphatidylinositol glycan anchor biosynthesis class L gene DOID:630 genetic disease ISO RGD:1342664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:22444671|PMID:23561846|PMID:24784135|PMID:25250048|PMID:25741868|PMID:28371479|PMID:28492532|PMID:29473937|PMID:3041916|PMID:31535386|PMID:7666399|PMID:8893234 11753271 PIGL phosphatidylinositol glycan anchor biosynthesis class L gene DOID:9002100 Hyperphosphatasia with Mental Retardation Syndrome 1 ISO RGD:1342664 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2 11753271 PIGL phosphatidylinositol glycan anchor biosynthesis class L gene DOID:9003133 Hypertelorism ISO RGD:1342664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:18414213|PMID:22444671|PMID:23561846|PMID:24784135|PMID:25250048|PMID:25741868|PMID:28371479|PMID:28492532|PMID:29473937|PMID:3041916|PMID:31535386|PMID:7666399|PMID:8893234 11753271 PIGL phosphatidylinositol glycan anchor biosynthesis class L gene DOID:9003507 Premature Birth ISO RGD:1342664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Premature birth PMID:18414213|PMID:22444671|PMID:23561846|PMID:24784135|PMID:25250048|PMID:25741868|PMID:28371479|PMID:28492532|PMID:29473937|PMID:3041916|PMID:31535386|PMID:7666399|PMID:8893234 11753282 RTL9 retrotransposon Gag like 9 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11753282 RTL9 retrotransposon Gag like 9 gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:1352806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked PMID:26242992 11753282 RTL9 retrotransposon Gag like 9 gene DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ISO RGD:1352806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 11753282 RTL9 retrotransposon Gag like 9 gene DOID:12849 autistic disorder ISO RGD:1352806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11753282 RTL9 retrotransposon Gag like 9 gene DOID:5419 schizophrenia ISO RGD:1352806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11753282 RTL9 retrotransposon Gag like 9 gene DOID:630 genetic disease ISO RGD:1352806 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11753296 USO1 USO1 vesicle transport factor gene DOID:37 skin disease ISO RGD:733099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11753296 USO1 USO1 vesicle transport factor gene DOID:891 progressive myoclonus epilepsy ISO RGD:733099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 11753296 USO1 USO1 vesicle transport factor gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:733099 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11753296 USO1 USO1 vesicle transport factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:733099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11753296 USO1 USO1 vesicle transport factor gene DOID:9007964 Arsenic Poisoning ISO RGD:733099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11753328 NHSL1 NHS like 1 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1349811 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 11753328 NHSL1 NHS like 1 gene DOID:630 genetic disease ISO RGD:1349811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11753380 NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:0090006 renal coloboma syndrome ISO RGD:1319298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Renal coloboma syndrome PMID:11461952|PMID:24676634|PMID:28492532 11753380 NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:0112080 nuclear type mitochondrial complex I deficiency 32 ISO RGD:1319298 D RGD:7240710 20190315 OMIM 11753380 NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:0112080 nuclear type mitochondrial complex I deficiency 32 ISO RGD:1319298 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 PMID:25741868|PMID:28492532|PMID:29429571 11753380 NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:10652 Alzheimer's disease ISO RGD:1319298 D RGD:9068941 20200609 RGD PMID:14570706|REF_RGD_ID:1358651 11753380 NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:14330 Parkinson's disease ISO RGD:1319298 D RGD:9068941 20200609 RGD PMID:26605748|REF_RGD_ID:13504667 11753380 NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:3021 acute kidney failure ISO RGD:1309129 D RGD:9068941 20200609 RGD PMID:22160772|REF_RGD_ID:13801199 11753380 NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:37 skin disease ISO RGD:1319298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11753380 NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:630 genetic disease ISO RGD:1319298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11753380 NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:9004484 Sepsis ISO RGD:1309129 D RGD:9068941 20200609 RGD PMID:22952679|REF_RGD_ID:13801198 11753380 NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1309129 D RGD:9068941 20200609 RGD PMID:24096033|REF_RGD_ID:13801197 11753380 NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1319299 D RGD:9068941 20200609 RGD PMID:22160772|REF_RGD_ID:13801199 11753380 NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:9007964 Arsenic Poisoning ISO RGD:1319298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11753389 DEAF1 DEAF1 transcription factor gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11753389 DEAF1 DEAF1 transcription factor gene DOID:0050729 neutral lipid storage disease ISO RGD:731970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 11753389 DEAF1 DEAF1 transcription factor gene DOID:0060041 autism spectrum disorder ISO RGD:731970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders PMID:25741868|PMID:30763456|PMID:30923367 11753389 DEAF1 DEAF1 transcription factor gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:731970 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability PMID:25741868 11753389 DEAF1 DEAF1 transcription factor gene DOID:0070054 Vulto-van Silfout-de Vries syndrome ISO RGD:731970 D RGD:7240710 20180130 OMIM 11753389 DEAF1 DEAF1 transcription factor gene DOID:0070054 Vulto-van Silfout-de Vries syndrome ISO RGD:731970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED EXPRESSIVE SPEECH AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES PMID:11690625|PMID:21076407|PMID:23020937|PMID:24726472|PMID:25326635|PMID:25741868|PMID:26048982|PMID:26467025|PMID:28213671|PMID:28492532|PMID:28940898|PMID:30923367 11753389 DEAF1 DEAF1 transcription factor gene DOID:0080436 developmental and epileptic encephalopathy 4 ISO RGD:731970 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4 PMID:25741868|PMID:28492532|PMID:30923367 11753389 DEAF1 DEAF1 transcription factor gene DOID:0080773 delta beta-thalassemia ISO RGD:731970 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11753389 DEAF1 DEAF1 transcription factor gene DOID:0111969 immunodeficiency 39 ISO RGD:731970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11753389 DEAF1 DEAF1 transcription factor gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11753389 DEAF1 DEAF1 transcription factor gene DOID:10283 prostate cancer ISO RGD:731970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11753389 DEAF1 DEAF1 transcription factor gene DOID:1059 intellectual disability ISO RGD:731970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:28714951|PMID:31785789|PMID:31981491 11753389 DEAF1 DEAF1 transcription factor gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:731970 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:25741868|PMID:28492532 11753389 DEAF1 DEAF1 transcription factor gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:731970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11753389 DEAF1 DEAF1 transcription factor gene DOID:630 genetic disease ISO RGD:731970 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24668509|PMID:24726472|PMID:25741868|PMID:26467025|PMID:26795593|PMID:26834045|PMID:28213671|PMID:28492532|PMID:28588821|PMID:28714951|PMID:28940898|PMID:30923367|PMID:31785789|PMID:31981491|PMID:33726816|PMID:9697411 11753389 DEAF1 DEAF1 transcription factor gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:731970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11753389 DEAF1 DEAF1 transcription factor gene DOID:9007457 Dyskinesias, Seizures, and Intellectual Developmental Disorder ISO RGD:731970 D RGD:7240710 20190315 OMIM 11753389 DEAF1 DEAF1 transcription factor gene DOID:9007457 Dyskinesias, Seizures, and Intellectual Developmental Disorder ISO RGD:731970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskinesia, seizures, and intellectual developmental disorder PMID:11690625|PMID:24668509|PMID:25741868|PMID:26048982|PMID:26467025|PMID:26795593|PMID:26834045|PMID:28492532|PMID:28940898|PMID:30923367|PMID:31688097|PMID:31929336 11753389 DEAF1 DEAF1 transcription factor gene DOID:9007478 Malocclusion, Angle Class III ISO RGD:731970 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hapsburg jaw PMID:25741868|PMID:28492532 11753389 DEAF1 DEAF1 transcription factor gene DOID:9008582 Developmental Disease ISO RGD:731970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11753389 DEAF1 DEAF1 transcription factor gene DOID:9970 obesity ISO RGD:731970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868|PMID:28492532 11753419 LOC100972584 olfactory receptor 2T11 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1349543 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11753419 LOC100972584 olfactory receptor 2T11 gene DOID:1540 parathyroid carcinoma ISO RGD:1349543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11753419 LOC100972584 olfactory receptor 2T11 gene DOID:630 genetic disease ISO RGD:1349543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11753419 LOC100972584 olfactory receptor 2T11 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11753426 LOC100974405 zinc finger protein 782 gene DOID:1059 intellectual disability ISO RGD:1345526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11753426 LOC100974405 zinc finger protein 782 gene DOID:630 genetic disease ISO RGD:1345526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11753462 PYCR3 pyrroline-5-carboxylate reductase 3 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1319273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11753462 PYCR3 pyrroline-5-carboxylate reductase 3 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1319273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11753462 PYCR3 pyrroline-5-carboxylate reductase 3 gene DOID:10283 prostate cancer ISO RGD:1319273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11753462 PYCR3 pyrroline-5-carboxylate reductase 3 gene DOID:4621 holoprosencephaly ISO RGD:1319273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11753462 PYCR3 pyrroline-5-carboxylate reductase 3 gene DOID:630 genetic disease ISO RGD:1319273 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11753472 MAML2 mastermind like transcriptional coactivator 2 gene DOID:1059 intellectual disability ISO RGD:1313593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11753472 MAML2 mastermind like transcriptional coactivator 2 gene DOID:12704 ataxia telangiectasia ISO RGD:1313593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11753472 MAML2 mastermind like transcriptional coactivator 2 gene DOID:630 genetic disease ISO RGD:1313593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11753472 MAML2 mastermind like transcriptional coactivator 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1313593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:0060001 withdrawal disorder ISO RGD:732269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878694 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:0060174 GABA aminotransferase deficiency ISO RGD:732269 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency PMID:28492532 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:732269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:25741868 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:0070051 autosomal dominant intellectual developmental disorder 21 ISO RGD:732269 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome PMID:25741868 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:732269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy PMID:25741868 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:732269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:1059 intellectual disability ISO RGD:732269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:10652 Alzheimer's disease ISO RGD:732269 D RGD:9068941 20200609 RGD PMID:24156266|REF_RGD_ID:13792688 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:10907 microcephaly ISO RGD:732269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:12849 autistic disorder ISO RGD:732269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15830322 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:12858 Huntington's disease ISO RGD:10686 D RGD:9068941 20200609 RGD PMID:17409241|REF_RGD_ID:13432195 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:12858 Huntington's disease onset ISO RGD:732269 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1969060 (human) PMID:15742215|REF_RGD_ID:13432556 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:12858 Huntington's disease onset ISO RGD:732269 D RGD:9068941 20200609 RGD DNA:SNPs: :rs8057394, rs2650427 (human) PMID:17569088|REF_RGD_ID:13432554 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:1561 cognitive disorder ISO RGD:2737 D RGD:9068941 20200609 RGD associated with Fetal Hypoxia;mRNA, protein:decreased expression:hippocampus PMID:26656067|REF_RGD_ID:13792690 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:1824 status epilepticus ISO RGD:2737 D RGD:9068941 20200609 RGD PMID:25457025|REF_RGD_ID:13792697 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:1826 epilepsy ISO RGD:732269 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:23933819|PMID:26467025|PMID:28492532 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:1909 melanoma ISO RGD:732269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:2234 focal epilepsy ISO RGD:732269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal epilepsy PMID:23933819|PMID:23933820|PMID:25164438|PMID:25741868|PMID:26467025|PMID:27640074|PMID:28492532|PMID:29124671 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:2538 Landau-Kleffner syndrome ISO RGD:732269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:16199547|PMID:16537520|PMID:17576681|PMID:18414213|PMID:20384727|PMID:20890276|PMID:21376300|PMID:21559497|PMID:21681106|PMID:23033978|PMID:23408766|PMID:23933818|PMID:23933819|PMID:23933820|PMID:24125812|PMID:24372385|PMID:24828792|PMID:24848745|PMID:25164438|PMID:25326635|PMID:25356970|PMID:25498981|PMID:25640679|PMID:25726841|PMID:25741868|PMID:25904555|PMID:26220384|PMID:26283219|PMID:26350204|PMID:26467025|PMID:26601054|PMID:26648591|PMID:26781712|PMID:26806548|PMID:27288002|PMID:27640074|PMID:27781031|PMID:27839871|PMID:28102150|PMID:28109652|PMID:28182669|PMID:28242877|PMID:28333917|PMID:28492532|PMID:28936771|PMID:29056244|PMID:29124671|PMID:29358611|PMID:29655203|PMID:29961510|PMID:30544257|PMID:31098720|PMID:31429998|PMID:32238909|PMID:32722525|PMID:33258288|PMID:33391346|PMID:7574460|PMID:9536098 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:2560 morphine dependence ISO RGD:732269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878694 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:3312 bipolar disorder ISO RGD:732269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:3312 bipolar disorder ISO RGD:732269 D RGD:9068941 20200609 RGD DNA:repeat:promoter:(GT)18-33 (human) PMID:12809987|REF_RGD_ID:1358644 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:732269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:16199547|PMID:18414213|PMID:23933818|PMID:23933819|PMID:23933820|PMID:25726841|PMID:25741868|PMID:25904555|PMID:26467025|PMID:26601054|PMID:27288002|PMID:27839871|PMID:28102150|PMID:28109652|PMID:28242877|PMID:28492532|PMID:29124671|PMID:29358611|PMID:30544257|PMID:7574460 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:3891 placental insufficiency ISO RGD:2737 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus (rat) PMID:19144756|REF_RGD_ID:2326049 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:5419 schizophrenia ISO RGD:732269 D RGD:9068941 20200609 RGD DNA:polymorphism:G/T:promoter PMID:17011703|REF_RGD_ID:1642198 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:5419 schizophrenia ISO RGD:732269 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex layers 3-4 PMID:18534564|REF_RGD_ID:6480428 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:5812 MHC class II deficiency ISO RGD:732269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:630 genetic disease ISO RGD:732269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:20890276|PMID:21559497|PMID:23033978|PMID:23408766|PMID:23933818|PMID:23933819|PMID:23933820|PMID:25164438|PMID:25356970|PMID:25498981|PMID:25726841|PMID:25741868|PMID:25904555|PMID:26220384|PMID:26283219|PMID:26350204|PMID:26467025|PMID:26601054|PMID:26781712|PMID:27288002|PMID:27640074|PMID:27781031|PMID:27839871|PMID:28109652|PMID:28492532|PMID:29124671|PMID:29358611|PMID:30544257|PMID:31098720|PMID:31429998 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:8725 vascular dementia ISO RGD:732269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:732269 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:16199547|PMID:23933818|PMID:23933819|PMID:23933820|PMID:25741868|PMID:28102150|PMID:28492532|PMID:29124671|PMID:29358611|PMID:30544257|PMID:7574460 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9001793 Generalized Epilepsy ISO RGD:732269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:28492532 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9002211 Hyperalgesia ISO RGD:2737 D RGD:9068941 20200609 RGD PMID:29758384|REF_RGD_ID:13792698 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9002231 Fetal Growth Retardation ISO RGD:2737 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortical neuron (rat) PMID:20398734|REF_RGD_ID:4107070 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9002510 Focal Epilepsy with Speech Disorder and with or without Mental Retardation ISO RGD:732269 D RGD:7240710 20180130 OMIM 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9002510 Focal Epilepsy with Speech Disorder and with or without Mental Retardation ISO RGD:732269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia, intellectual disability and language impairment | ClinVar Annotator: match by term: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT PMID:16199547|PMID:17576681|PMID:18414213|PMID:20890276|PMID:23933818|PMID:23933819|PMID:23933820|PMID:25726841|PMID:25741868|PMID:25904555|PMID:26467025|PMID:26601054|PMID:27288002|PMID:27839871|PMID:28102150|PMID:28109652|PMID:28242877|PMID:28492532|PMID:29124671|PMID:29358611|PMID:30544257|PMID:7574460|PMID:9536098 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2737 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus (rat) PMID:19761817|REF_RGD_ID:2325954 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9003736 Central Nervous System Viral Diseases ISO RGD:2737 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:19660546|REF_RGD_ID:2325963 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9004009 Reperfusion Injury ISO RGD:2737 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cerebral cortex, hippocampus (rat) PMID:20350575|REF_RGD_ID:2325867 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532|PMID:30544257 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9004484 Sepsis ISO RGD:2737 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:19837828|REF_RGD_ID:2325949 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9005466 Language Development Disorders ISO RGD:732269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23933820 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:732269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:28492532|PMID:30544257 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9008086 Developmental Disabilities ISO RGD:732269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9008443 Colorectal Neoplasms ISO RGD:732269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17922030 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:92 speech disorder ISO RGD:732269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23933820 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9256 colorectal cancer ISO RGD:732269 D RGD:9068941 20211231 RGD DNA:hypermethylation:promoter (human) PMID:17922030|REF_RGD_ID:150539451 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:732269 D RGD:9068941 20211231 RGD right-sided colorectal cancer;DNA:mutations:multiple (human) PMID:33106877|REF_RGD_ID:150539450 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9261 nasopharynx carcinoma ISO RGD:732269 D RGD:9068941 20211231 RGD protein:decreased expression:nasopharynx (human) PMID:26681223|REF_RGD_ID:150539449 11753482 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:2737 D RGD:9068941 20200609 RGD PMID:25457025|REF_RGD_ID:13792697 11753504 LOC100978332 pantetheinase gene DOID:0050589 inflammatory bowel disease ISO RGD:1320770 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17145956 11753504 LOC100978332 pantetheinase gene DOID:10608 celiac disease ISO RGD:1320770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 11753504 LOC100978332 pantetheinase gene DOID:3310 atopic dermatitis ISO RGD:1320770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19322213 11753504 LOC100978332 pantetheinase gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:1320770 D RGD:9068941 20220303 RGD protein:increased expression:blood (human) PMID:32663515|REF_RGD_ID:151660329 11753504 LOC100978332 pantetheinase gene DOID:630 genetic disease ISO RGD:1320770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11753504 LOC100978332 pantetheinase gene DOID:8893 psoriasis ISO RGD:1320770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19322213 11753504 LOC100978332 pantetheinase gene DOID:9003370 Dyslipidemias ISO RGD:1320770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17873875 11753523 PSAPL1 prosaposin like 1 gene DOID:630 genetic disease ISO RGD:1603414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11753528 GTF3C3 general transcription factor IIIC subunit 3 gene DOID:630 genetic disease ISO RGD:1319385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11753528 GTF3C3 general transcription factor IIIC subunit 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319385 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28097321|PMID:28940097|PMID:30552426 11753557 ZBTB7C zinc finger and BTB domain containing 7C gene DOID:1059 intellectual disability ISO RGD:1606940 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11753557 ZBTB7C zinc finger and BTB domain containing 7C gene DOID:630 genetic disease ISO RGD:1606940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11753568 CAPG capping actin protein, gelsolin like gene DOID:0080600 COVID-19 ISO RGD:1323330 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11753568 CAPG capping actin protein, gelsolin like gene DOID:3910 lung adenocarcinoma ISO RGD:1323330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 11753568 CAPG capping actin protein, gelsolin like gene DOID:4450 renal cell carcinoma ISO RGD:1323330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 11753568 CAPG capping actin protein, gelsolin like gene DOID:630 genetic disease ISO RGD:1323330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11753568 CAPG capping actin protein, gelsolin like gene DOID:9000058 Keloid ISO RGD:1323330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 11753568 CAPG capping actin protein, gelsolin like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11753568 CAPG capping actin protein, gelsolin like gene DOID:9119 acute myeloid leukemia ISO RGD:1323330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 11753594 FCSK fucose kinase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1315934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11753594 FCSK fucose kinase gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1315934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11753594 FCSK fucose kinase gene DOID:0070262 congenital disorder of glycosylation type IIj ISO RGD:1315934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COG4-CDG PMID:19494034 11753594 FCSK fucose kinase gene DOID:630 genetic disease ISO RGD:1315934 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11753594 FCSK fucose kinase gene DOID:9001022 Congenital Disorder of Glycosylation with Defective Fucosylation ISO RGD:1315934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation PMID:28492532 11753594 FCSK fucose kinase gene DOID:9001746 Congenital Disorder of Glycosylation with Defective Fucosylation 2 ISO RGD:1315934 D RGD:7240710 20190315 OMIM 11753594 FCSK fucose kinase gene DOID:9001746 Congenital Disorder of Glycosylation with Defective Fucosylation 2 ISO RGD:1315934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation 2 PMID:16199547|PMID:25741868|PMID:28492532|PMID:30503518 11753627 EIF6 eukaryotic translation initiation factor 6 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313362 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11753627 EIF6 eukaryotic translation initiation factor 6 gene DOID:630 genetic disease ISO RGD:1313362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11753627 EIF6 eukaryotic translation initiation factor 6 gene DOID:9008939 Breast Neoplasms ISO RGD:1313362 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 11753653 MMS19 MMS19 homolog, cytosolic iron-sulfur assembly component gene DOID:630 genetic disease ISO RGD:1354311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11753704 LOC100983398 acylphosphatase-2 gene DOID:0060645 chronic recurrent multifocal osteomyelitis ISO RGD:1350765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic osteomyelitis 11753704 LOC100983398 acylphosphatase-2 gene DOID:630 genetic disease ISO RGD:1350765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11753704 LOC100983398 acylphosphatase-2 gene DOID:9004673 Hearing Loss, Cisplatin-Induced ISO RGD:1350765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25665007 11753710 ITGA4 integrin subunit alpha 4 gene DOID:0050572 cone-rod dystrophy ISO RGD:1348031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868|PMID:28492532 11753710 ITGA4 integrin subunit alpha 4 gene DOID:0050589 inflammatory bowel disease ISO RGD:1348031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28067908 11753710 ITGA4 integrin subunit alpha 4 gene DOID:0060041 autism spectrum disorder susceptibility ISO RGD:1348031 D RGD:9068941 20200609 RGD DNA:SNP,haplotypes:intron:rs155100(human) PMID:19259978|REF_RGD_ID:13593533 11753710 ITGA4 integrin subunit alpha 4 gene DOID:0110368 retinitis pigmentosa 26 ISO RGD:1348031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 26 PMID:25741868|PMID:28492532|PMID:29555955 11753710 ITGA4 integrin subunit alpha 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1348031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28041643|PMID:28492532 11753710 ITGA4 integrin subunit alpha 4 gene DOID:10591 pre-eclampsia ISO RGD:1593249 D RGD:9068941 20200609 RGD protein:increased expression:blood, granulocyte (rat) PMID:10694336|REF_RGD_ID:9698441 11753710 ITGA4 integrin subunit alpha 4 gene DOID:10952 nephritis treatment ISO RGD:1593249 D RGD:9068941 20200609 RGD PMID:9773789|REF_RGD_ID:9698422 11753710 ITGA4 integrin subunit alpha 4 gene DOID:12849 autistic disorder ISO RGD:1348031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18348195 11753710 ITGA4 integrin subunit alpha 4 gene DOID:1793 pancreatic cancer ISO RGD:1348031 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:18772397|REF_RGD_ID:5490966 11753710 ITGA4 integrin subunit alpha 4 gene DOID:4780 anti-basement membrane glomerulonephritis treatment ISO RGD:1593249 D RGD:9068941 20200609 RGD PMID:7679412|PMID:9032136|REF_RGD_ID:2308810|REF_RGD_ID:9698425 11753710 ITGA4 integrin subunit alpha 4 gene DOID:552 pneumonia treatment ISO RGD:1593249 D RGD:9068941 20200609 RGD PMID:8703473|REF_RGD_ID:9698424 11753710 ITGA4 integrin subunit alpha 4 gene DOID:630 genetic disease ISO RGD:1348031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11753710 ITGA4 integrin subunit alpha 4 gene DOID:8501 fundus dystrophy ISO RGD:1348031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 11753710 ITGA4 integrin subunit alpha 4 gene DOID:8947 diabetic retinopathy treatment ISO RGD:1593249 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19553613|REF_RGD_ID:9698417 11753710 ITGA4 integrin subunit alpha 4 gene DOID:9000099 Experimental Colitis ISO RGD:1593249 D RGD:9068941 20200609 RGD protein:increased expression:colon (rat) PMID:12183646|REF_RGD_ID:729408 11753710 ITGA4 integrin subunit alpha 4 gene DOID:9001039 Leukocytosis ISO RGD:1593249 D RGD:9068941 20200609 RGD PMID:12626659|REF_RGD_ID:9698418 11753710 ITGA4 integrin subunit alpha 4 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1348031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21093051 11753710 ITGA4 integrin subunit alpha 4 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1593249 D RGD:9068941 20200609 RGD PMID:12969328|REF_RGD_ID:9698440 11753710 ITGA4 integrin subunit alpha 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis susceptibility ISO RGD:1593249 D RGD:9068941 20200609 RGD rat bone marrow cells in a mouse model PMID:18722022|REF_RGD_ID:9698436 11753710 ITGA4 integrin subunit alpha 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1593249 D RGD:9068941 20200609 RGD PMID:12626659|REF_RGD_ID:9698418 11753710 ITGA4 integrin subunit alpha 4 gene DOID:9004283 Transplant Rejection treatment ISO RGD:1558454 D RGD:9068941 20200609 RGD PMID:9721793|REF_RGD_ID:9698437 11753710 ITGA4 integrin subunit alpha 4 gene DOID:9004484 Sepsis ISO RGD:1348031 D RGD:9068941 20200609 RGD protein:increased expression:neutrophil PMID:19011162|REF_RGD_ID:13593535 11753710 ITGA4 integrin subunit alpha 4 gene DOID:9007402 Gliosis ISO RGD:1348031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12851778 11753710 ITGA4 integrin subunit alpha 4 gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:1558454 D RGD:9068941 20200609 RGD PMID:7528925|REF_RGD_ID:13593534 11753742 CSE1L chromosome segregation 1 like gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:1316788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 PMID:28492532 11753742 CSE1L chromosome segregation 1 like gene DOID:630 genetic disease ISO RGD:1316788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11753742 CSE1L chromosome segregation 1 like gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1316788 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34022224 11753771 TACR3 tachykinin receptor 3 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:735782 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 11753771 TACR3 tachykinin receptor 3 gene DOID:0090071 hypogonadotropic hypogonadism 11 with or without anosmia ISO RGD:735782 D RGD:7240710 20180130 OMIM 11753771 TACR3 tachykinin receptor 3 gene DOID:0090071 hypogonadotropic hypogonadism 11 with or without anosmia ISO RGD:735782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 11 with or without anosmia PMID:18422838|PMID:19079066|PMID:20194706|PMID:20332248|PMID:21300340|PMID:22031817|PMID:22035731|PMID:23329188|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33363893 11753771 TACR3 tachykinin receptor 3 gene DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia ISO RGD:735782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated GnRH Deficiency 11753771 TACR3 tachykinin receptor 3 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:735782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25636053 11753771 TACR3 tachykinin receptor 3 gene DOID:10763 hypertension ISO RGD:3810 D RGD:9068941 20200609 RGD PMID:2471579|REF_RGD_ID:2305984 11753771 TACR3 tachykinin receptor 3 gene DOID:11832 visual epilepsy ISO RGD:3810 D RGD:9068941 20200609 RGD mRNA:altered expression:brain PMID:7898759|REF_RGD_ID:2305980 11753771 TACR3 tachykinin receptor 3 gene DOID:13938 amenorrhea ISO RGD:735782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 11753771 TACR3 tachykinin receptor 3 gene DOID:1574 alcohol use disorder ISO RGD:735782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18422838 11753771 TACR3 tachykinin receptor 3 gene DOID:1921 Klinefelter syndrome ISO RGD:735782 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 11753771 TACR3 tachykinin receptor 3 gene DOID:1924 hypogonadism ISO RGD:735782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19079066 11753771 TACR3 tachykinin receptor 3 gene DOID:3633 beta-mannosidosis ISO RGD:735782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 11753771 TACR3 tachykinin receptor 3 gene DOID:630 genetic disease ISO RGD:735782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11753771 TACR3 tachykinin receptor 3 gene DOID:9000641 Pain ISO RGD:3810 D RGD:9068941 20200609 RGD PMID:19093101|REF_RGD_ID:2304256 11753771 TACR3 tachykinin receptor 3 gene DOID:9001239 Delayed Puberty ISO RGD:735782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Delayed puberty PMID:25636053 11753771 TACR3 tachykinin receptor 3 gene DOID:9005372 Inflammation ISO RGD:3810 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:10891623|REF_RGD_ID:2305951 11753771 TACR3 tachykinin receptor 3 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18422838 11753771 TACR3 tachykinin receptor 3 gene DOID:9006024 Hypotension ISO RGD:3810 D RGD:9068941 20200609 RGD PMID:18650316|REF_RGD_ID:2305929 11753780 MYO10 myosin X gene DOID:630 genetic disease ISO RGD:1316238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11753780 MYO10 myosin X gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11753780 MYO10 myosin X gene DOID:9004657 Weight Gain ISO RGD:1316238 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11753825 CDK5RAP3 CDK5 regulatory subunit associated protein 3 gene DOID:630 genetic disease ISO RGD:731437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11753846 ZC2HC1C zinc finger C2HC-type containing 1C gene DOID:1059 intellectual disability ISO RGD:1316129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11753846 ZC2HC1C zinc finger C2HC-type containing 1C gene DOID:630 genetic disease ISO RGD:1316129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11753865 CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 gene DOID:0050724 PSPH deficiency ISO RGD:1320361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency PMID:28492532 11753865 CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 gene DOID:0080504 Parkinson's disease 22 ISO RGD:1320361 D RGD:7240710 20180130 OMIM 11753865 CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 gene DOID:0080504 Parkinson's disease 22 ISO RGD:1320361 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinson disease 22, autosomal dominant PMID:25662902|PMID:25741868|PMID:26067110|PMID:26067113|PMID:26561290|PMID:28492532|PMID:32068847 11753865 CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1320361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11753865 CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 gene DOID:2187 amelogenesis imperfecta ISO RGD:1320361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta 11753865 CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11753865 CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 gene DOID:630 genetic disease ISO RGD:1320361 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11753874 PRKCZ protein kinase C zeta gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:736361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11753874 PRKCZ protein kinase C zeta gene DOID:0060041 autism spectrum disorder ISO RGD:736361 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11753874 PRKCZ protein kinase C zeta gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:736361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11753874 PRKCZ protein kinase C zeta gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:736361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11753874 PRKCZ protein kinase C zeta gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:736361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11753874 PRKCZ protein kinase C zeta gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:736361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11753874 PRKCZ protein kinase C zeta gene DOID:0110994 Joubert syndrome 25 ISO RGD:736361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11753874 PRKCZ protein kinase C zeta gene DOID:0111934 immunodeficiency 38 ISO RGD:736361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11753874 PRKCZ protein kinase C zeta gene DOID:0111935 immunodeficiency 16 ISO RGD:736361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11753874 PRKCZ protein kinase C zeta gene DOID:1240 leukemia ISO RGD:736361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12970779 11753874 PRKCZ protein kinase C zeta gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11753874 PRKCZ protein kinase C zeta gene DOID:4195 hyperglycemia ISO RGD:3399 D RGD:9068941 20200609 RGD protein:increased threonine phosphorylation, increased activity:soleus muscle PMID:12960081|REF_RGD_ID:1642528 11753874 PRKCZ protein kinase C zeta gene DOID:630 genetic disease ISO RGD:736361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11753874 PRKCZ protein kinase C zeta gene DOID:9002211 Hyperalgesia ISO RGD:736361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27899695 11753874 PRKCZ protein kinase C zeta gene DOID:9002304 Prostatic Neoplasms ISO RGD:736361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16931574 11753874 PRKCZ protein kinase C zeta gene DOID:9003936 Cardiomegaly ISO RGD:736361 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27094369 11753874 PRKCZ protein kinase C zeta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11753874 PRKCZ protein kinase C zeta gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3399 D RGD:9068941 20200609 RGD PMID:16900949|REF_RGD_ID:1581275 11753874 PRKCZ protein kinase C zeta gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:736361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11753874 PRKCZ protein kinase C zeta gene DOID:9007692 Insulin Resistance ISO RGD:736361 D RGD:9068941 20200609 RGD protein::skeletal muscle:reduced response to insulin in obese and diabetic subjects PMID:12882908|REF_RGD_ID:1642650 11753874 PRKCZ protein kinase C zeta gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:736361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11753874 PRKCZ protein kinase C zeta gene DOID:9352 type 2 diabetes mellitus ISO RGD:3399 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver,pancreas: PMID:26398746|REF_RGD_ID:13506804 11753894 N4BP3 NEDD4 binding protein 3 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:4145242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11753894 N4BP3 NEDD4 binding protein 3 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:4145242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11753894 N4BP3 NEDD4 binding protein 3 gene DOID:0112103 Sotos syndrome 1 ISO RGD:4145242 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11753894 N4BP3 NEDD4 binding protein 3 gene DOID:2729 dyskeratosis congenita ISO RGD:4145242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11753894 N4BP3 NEDD4 binding protein 3 gene DOID:630 genetic disease ISO RGD:4145242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11753941 CDH8 cadherin 8 gene DOID:630 genetic disease ISO RGD:735375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11753967 TRIML1 tripartite motif family like 1 gene DOID:10283 prostate cancer ISO RGD:1605231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11753967 TRIML1 tripartite motif family like 1 gene DOID:12849 autistic disorder ISO RGD:1605231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11753967 TRIML1 tripartite motif family like 1 gene DOID:2229 factor XI deficiency ISO RGD:1605231 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:34355501 11753967 TRIML1 tripartite motif family like 1 gene DOID:630 genetic disease ISO RGD:1605231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11753967 TRIML1 tripartite motif family like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11753977 KCNJ13 potassium inwardly rectifying channel subfamily J member 13 gene DOID:0060476 Perlman syndrome ISO RGD:734216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11753977 KCNJ13 potassium inwardly rectifying channel subfamily J member 13 gene DOID:0110118 Leber congenital amaurosis 16 ISO RGD:734216 D RGD:7240710 20180130 OMIM 11753977 KCNJ13 potassium inwardly rectifying channel subfamily J member 13 gene DOID:0110118 Leber congenital amaurosis 16 ISO RGD:734216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 16 PMID:18179896|PMID:21763485|PMID:23255580|PMID:23977131|PMID:25326637|PMID:25475713|PMID:25741868|PMID:25921210|PMID:27203561|PMID:28492532|PMID:29068479 11753977 KCNJ13 potassium inwardly rectifying channel subfamily J member 13 gene DOID:0110991 Joubert syndrome 22 ISO RGD:734216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11753977 KCNJ13 potassium inwardly rectifying channel subfamily J member 13 gene DOID:0111570 snowflake vitreoretinal degeneration ISO RGD:734216 D RGD:7240710 20180130 OMIM 11753977 KCNJ13 potassium inwardly rectifying channel subfamily J member 13 gene DOID:0111570 snowflake vitreoretinal degeneration ISO RGD:734216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Snowflake vitreoretinal degeneration PMID:18179896|PMID:23255580|PMID:23977131|PMID:25741868|PMID:28492532|PMID:33546218 11753977 KCNJ13 potassium inwardly rectifying channel subfamily J member 13 gene DOID:14791 Leber congenital amaurosis ISO RGD:734216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25326637 11753977 KCNJ13 potassium inwardly rectifying channel subfamily J member 13 gene DOID:630 genetic disease ISO RGD:734216 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11753977 KCNJ13 potassium inwardly rectifying channel subfamily J member 13 gene DOID:8501 fundus dystrophy ISO RGD:734216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 11753992 CNNM1 cyclin and CBS domain divalent metal cation transport mediator 1 gene DOID:1909 melanoma ISO RGD:1318672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 11753992 CNNM1 cyclin and CBS domain divalent metal cation transport mediator 1 gene DOID:3007 breast ductal carcinoma ISO RGD:1318672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 11753992 CNNM1 cyclin and CBS domain divalent metal cation transport mediator 1 gene DOID:630 genetic disease ISO RGD:1318672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754007 TINAG tubulointerstitial nephritis antigen gene DOID:630 genetic disease ISO RGD:1346434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754007 TINAG tubulointerstitial nephritis antigen gene DOID:9002165 Diabetic Nephropathies ISO RGD:1346434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19634143 11754072 LOC103785009 carcinoembryonic antigen-related cell adhesion molecule 8 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1343324 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 11754072 LOC103785009 carcinoembryonic antigen-related cell adhesion molecule 8 gene DOID:5419 schizophrenia ISO RGD:1343324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11754072 LOC103785009 carcinoembryonic antigen-related cell adhesion molecule 8 gene DOID:630 genetic disease ISO RGD:1343324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754113 TAF1C TATA-box binding protein associated factor, RNA polymerase I subunit C gene DOID:0110618 primary ciliary dyskinesia 13 ISO RGD:1313816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 13 PMID:25741868 11754113 TAF1C TATA-box binding protein associated factor, RNA polymerase I subunit C gene DOID:12849 autistic disorder ISO RGD:1313816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20663923 11754113 TAF1C TATA-box binding protein associated factor, RNA polymerase I subunit C gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1313816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 11754113 TAF1C TATA-box binding protein associated factor, RNA polymerase I subunit C gene DOID:630 genetic disease ISO RGD:1313816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754113 TAF1C TATA-box binding protein associated factor, RNA polymerase I subunit C gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:19944400|PMID:19944405|PMID:24033266|PMID:28492532 11754145 METTL2A methyltransferase 2A, methylcytidine gene DOID:630 genetic disease ISO RGD:1601800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754152 ADGB androglobin gene DOID:14261 fragile X syndrome ISO RGD:1343309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fragile X syndrome 11754152 ADGB androglobin gene DOID:630 genetic disease ISO RGD:1343309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754192 FAM78A family with sequence similarity 78 member A gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1354321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11754192 FAM78A family with sequence similarity 78 member A gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1354321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 11754192 FAM78A family with sequence similarity 78 member A gene DOID:630 genetic disease ISO RGD:1354321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754201 CHSY1 chondroitin sulfate synthase 1 gene DOID:0050814 temtamy preaxial brachydactyly syndrome ISO RGD:1323606 D RGD:7240710 20180130 OMIM 11754201 CHSY1 chondroitin sulfate synthase 1 gene DOID:0050814 temtamy preaxial brachydactyly syndrome ISO RGD:1323606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome PMID:19952732|PMID:21129727|PMID:21129728|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9823490 11754201 CHSY1 chondroitin sulfate synthase 1 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1323606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 11754201 CHSY1 chondroitin sulfate synthase 1 gene DOID:630 genetic disease ISO RGD:1323606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21129728|PMID:25741868|PMID:26467025|PMID:28492532 11754201 CHSY1 chondroitin sulfate synthase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323606 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11754201 CHSY1 chondroitin sulfate synthase 1 gene DOID:9004538 Hearing Loss ISO RGD:1323606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30872814 11754209 RAB41 RAB41, member RAS oncogene family gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11754209 RAB41 RAB41, member RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:1347777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11754209 RAB41 RAB41, member RAS oncogene family gene DOID:1826 epilepsy ISO RGD:1347777 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11754209 RAB41 RAB41, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1347777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754223 GPR21 G protein-coupled receptor 21 gene DOID:630 genetic disease ISO RGD:1351876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754228 SETD1A SET domain containing 1A, histone lysine methyltransferase gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1605414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11754228 SETD1A SET domain containing 1A, histone lysine methyltransferase gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1605414 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 11754228 SETD1A SET domain containing 1A, histone lysine methyltransferase gene DOID:1059 intellectual disability ISO RGD:1605414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11754228 SETD1A SET domain containing 1A, histone lysine methyltransferase gene DOID:12849 autistic disorder ISO RGD:1605414 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 11754228 SETD1A SET domain containing 1A, histone lysine methyltransferase gene DOID:1826 epilepsy ISO RGD:1605414 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11754228 SETD1A SET domain containing 1A, histone lysine methyltransferase gene DOID:5419 schizophrenia ISO RGD:1605414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:26974950|PMID:28492532|PMID:32346159 11754228 SETD1A SET domain containing 1A, histone lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1605414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11754228 SETD1A SET domain containing 1A, histone lysine methyltransferase gene DOID:9001194 NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES ISO RGD:1605414 D RGD:7240710 20201216 OMIM 11754228 SETD1A SET domain containing 1A, histone lysine methyltransferase gene DOID:9001194 NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES ISO RGD:1605414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with speech impairment and dysmorphic facies PMID:24853937|PMID:25420024|PMID:25741868|PMID:26974950|PMID:32346159|PMID:36672956 11754228 SETD1A SET domain containing 1A, histone lysine methyltransferase gene DOID:9001558 EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY ISO RGD:1605414 D RGD:7240710 20200715 OMIM 11754228 SETD1A SET domain containing 1A, histone lysine methyltransferase gene DOID:9001558 EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY ISO RGD:1605414 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, early-onset, with or without developmental delay PMID:24853937|PMID:25420024|PMID:25741868|PMID:26974950|PMID:28492532|PMID:29463886|PMID:31197650|PMID:31595951 11754228 SETD1A SET domain containing 1A, histone lysine methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11754228 SETD1A SET domain containing 1A, histone lysine methyltransferase gene DOID:9008582 Developmental Disease ISO RGD:1605414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11754228 SETD1A SET domain containing 1A, histone lysine methyltransferase gene DOID:9009097 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies ISO RGD:1605414 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies PMID:25741868 11754251 RBMX RNA binding motif protein X-linked gene DOID:0060022 CD40 ligand deficiency ISO RGD:1349812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11754251 RBMX RNA binding motif protein X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11754251 RBMX RNA binding motif protein X-linked gene DOID:0060825 Christianson syndrome ISO RGD:1349812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11754251 RBMX RNA binding motif protein X-linked gene DOID:0060826 syndromic X-linked intellectual disability Shashi type ISO RGD:1349812 D RGD:7240710 20180130 OMIM 11754251 RBMX RNA binding motif protein X-linked gene DOID:0060826 syndromic X-linked intellectual disability Shashi type ISO RGD:1349812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Shashi type PMID:10677307|PMID:25256757|PMID:25741868 11754251 RBMX RNA binding motif protein X-linked gene DOID:12849 autistic disorder ISO RGD:1349812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11754251 RBMX RNA binding motif protein X-linked gene DOID:630 genetic disease ISO RGD:1349812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754251 RBMX RNA binding motif protein X-linked gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1349812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11754251 RBMX RNA binding motif protein X-linked gene DOID:9000039 Spinal Cord Injuries ISO RGD:1565256 D RGD:9068941 20200609 RGD PMID:23180094|REF_RGD_ID:10053723 11754251 RBMX RNA binding motif protein X-linked gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1349812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Visceral heterotaxia PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11754251 RBMX RNA binding motif protein X-linked gene DOID:9007823 Chromosome Xq26.3 Duplication Syndrome ISO RGD:1349812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome PMID:25712922|PMID:26935837 11754269 DUOXA1 dual oxidase maturation factor 1 gene DOID:0050712 AGAT deficiency ISO RGD:1602196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 11754269 DUOXA1 dual oxidase maturation factor 1 gene DOID:2717 Bloom syndrome ISO RGD:1602196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11754269 DUOXA1 dual oxidase maturation factor 1 gene DOID:630 genetic disease ISO RGD:1602196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754269 DUOXA1 dual oxidase maturation factor 1 gene DOID:9256 colorectal cancer ISO RGD:1602196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11754291 NMB neuromedin B gene DOID:2717 Bloom syndrome ISO RGD:1315040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11754291 NMB neuromedin B gene DOID:630 genetic disease ISO RGD:1315040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754291 NMB neuromedin B gene DOID:9006202 Pruritus ISO RGD:1315040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29669290 11754291 NMB neuromedin B gene DOID:9256 colorectal cancer ISO RGD:1315040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11754291 NMB neuromedin B gene DOID:9970 obesity ISO RGD:1315040 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:401G>A, silent mutation in stop codon, associated with body weight (p=0.02) PMID:11194934|REF_RGD_ID:1642062 11754291 NMB neuromedin B gene DOID:9970 obesity ISO RGD:1562710 D RGD:9068941 20200609 RGD protein:increased expression:central hypothalamus:concentrations higher in obese (fa/fa) than in lean (Fa/?) male Zucker rats, not affected by weight loss PMID:1709601|REF_RGD_ID:1642063 11754291 NMB neuromedin B gene DOID:9970 obesity susceptibility ISO RGD:1315040 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:217C>A, amino acid P73T, associated with disinhibition toward food (p=0.03), susceptibility to hunger (p=0.01) and increased percent body fat (p<0.05) PMID:15585758|REF_RGD_ID:1642059 11754299 LOC100977063 cytochrome c oxidase assembly factor 1 homolog gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11754299 LOC100977063 cytochrome c oxidase assembly factor 1 homolog gene DOID:630 genetic disease ISO RGD:1601863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754333 PSMD6 proteasome 26S subunit, non-ATPase 6 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1351950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11754333 PSMD6 proteasome 26S subunit, non-ATPase 6 gene DOID:630 genetic disease ISO RGD:1351950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754333 PSMD6 proteasome 26S subunit, non-ATPase 6 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22158537 11754348 FBXW10B F-box and WD repeat domain containing 10B gene DOID:0110148 Charcot-Marie-Tooth disease type 1A ISO RGD:1350394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA PMID:25741868 11754348 FBXW10B F-box and WD repeat domain containing 10B gene DOID:12849 autistic disorder ISO RGD:1350394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11754354 ZDHHC14 zinc finger DHHC-type palmitoyltransferase 14 gene DOID:10348 blepharophimosis ISO RGD:1352800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis PMID:24674232 11754354 ZDHHC14 zinc finger DHHC-type palmitoyltransferase 14 gene DOID:630 genetic disease ISO RGD:1352800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754379 GOLGA5 golgin A5 gene DOID:0080054 achondrogenesis type IA ISO RGD:1317779 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11754379 GOLGA5 golgin A5 gene DOID:630 genetic disease ISO RGD:1317779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754379 GOLGA5 golgin A5 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1317779 D RGD:9068941 20200609 RGD reciprocal translocation resulting in fusion of GOLGA5 with the RET oncogene found in radioactivity-induced thyroid carcinomas PMID:9443391|REF_RGD_ID:1599259 11754399 DPH2 diphthamide biosynthesis 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:23252400|PMID:28492532 11754399 DPH2 diphthamide biosynthesis 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11754399 DPH2 diphthamide biosynthesis 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:23252400|PMID:28492532 11754399 DPH2 diphthamide biosynthesis 2 gene DOID:630 genetic disease ISO RGD:1312184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754399 DPH2 diphthamide biosynthesis 2 gene DOID:9007201 Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair 2 ISO RGD:1312184 D RGD:7240710 20221123 OMIM 11754399 DPH2 diphthamide biosynthesis 2 gene DOID:9007201 Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair 2 ISO RGD:1312184 D RGD:8554872 20221122 ClinVar ClinVar Annotator: match by term: DIPHTHAMIDE DEFICIENCY SYNDROME 2 | ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 PMID:25741868|PMID:27421267|PMID:32576952 11754399 DPH2 diphthamide biosynthesis 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1312184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:32576952 11754414 DNAJC1 DnaJ heat shock protein family (Hsp40) member C1 gene DOID:1909 melanoma ISO RGD:1318035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11754414 DNAJC1 DnaJ heat shock protein family (Hsp40) member C1 gene DOID:630 genetic disease ISO RGD:1318035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754430 CCT8 chaperonin containing TCP1 subunit 8 gene DOID:0080600 COVID-19 ISO RGD:1313488 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11754430 CCT8 chaperonin containing TCP1 subunit 8 gene DOID:630 genetic disease ISO RGD:1313488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754449 GCG glucagon gene DOID:0060180 colitis ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22323126 11754449 GCG glucagon gene DOID:10652 Alzheimer's disease ISO RGD:68970 D RGD:9068941 20200609 RGD PMID:23035082|REF_RGD_ID:10402366 11754449 GCG glucagon gene DOID:10763 hypertension ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 11754449 GCG glucagon gene DOID:114 heart disease ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3277781 11754449 GCG glucagon gene DOID:1168 familial hyperlipidemia ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:69995 11754449 GCG glucagon gene DOID:11716 prediabetes syndrome ISO RGD:68970 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:19654434|REF_RGD_ID:2313224 11754449 GCG glucagon gene DOID:12849 autistic disorder ISO RGD:68970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213|PMID:25741868 11754449 GCG glucagon gene DOID:178 vascular disease ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10464538 11754449 GCG glucagon gene DOID:2018 hyperinsulinism ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3019152 11754449 GCG glucagon gene DOID:4195 hyperglycemia ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18669601|PMID:3019152 11754449 GCG glucagon gene DOID:6000 congestive heart failure ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7608802 11754449 GCG glucagon gene DOID:630 genetic disease ISO RGD:68970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754449 GCG glucagon gene DOID:76 stomach disease ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17891687 11754449 GCG glucagon gene DOID:9000046 Poisoning ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7629900 11754449 GCG glucagon gene DOID:9001109 Anorexia ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21824258|PMID:28633506 11754449 GCG glucagon gene DOID:9001581 Constipation ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12107204 11754449 GCG glucagon gene DOID:9001661 Taste Disorders ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21824258 11754449 GCG glucagon gene DOID:9002362 Hyperkinesis ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9798264 11754449 GCG glucagon gene DOID:9002395 Hypothermia ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10464538 11754449 GCG glucagon gene DOID:9002554 Tachycardia ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7629900 11754449 GCG glucagon gene DOID:9002928 Colonic Neoplasms ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22323126 11754449 GCG glucagon gene DOID:9003805 Catalepsy ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9798264 11754449 GCG glucagon gene DOID:9005100 Aberrant Crypt Foci ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22323126 11754449 GCG glucagon gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2668 D RGD:9068941 20200609 RGD PMID:18996945|REF_RGD_ID:10402370 11754449 GCG glucagon gene DOID:9006024 Hypotension ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3277781|PMID:8517581 11754449 GCG glucagon gene DOID:9006462 Coma ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10464538 11754449 GCG glucagon gene DOID:9006638 Sinus Tachycardia ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7359351 11754449 GCG glucagon gene DOID:9006743 Spasm ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7192515 11754449 GCG glucagon gene DOID:9007001 Bradycardia ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3277781|PMID:3736332|PMID:6542785|PMID:7787496|PMID:9674488 11754449 GCG glucagon gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:68970 D RGD:9068941 20200609 RGD PMID:24125539|REF_RGD_ID:10402369 11754449 GCG glucagon gene DOID:9352 type 2 diabetes mellitus ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23466488 11754449 GCG glucagon gene DOID:9970 obesity ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20065960 11754460 FAM163B family with sequence similarity 163 member B gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1604863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 11754460 FAM163B family with sequence similarity 163 member B gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1604863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11754460 FAM163B family with sequence similarity 163 member B gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1604863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11754460 FAM163B family with sequence similarity 163 member B gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1604863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11754460 FAM163B family with sequence similarity 163 member B gene DOID:0081097 Rafiq syndrome ISO RGD:1604863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11754460 FAM163B family with sequence similarity 163 member B gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1604863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11754460 FAM163B family with sequence similarity 163 member B gene DOID:3652 Leigh disease ISO RGD:1604863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11754460 FAM163B family with sequence similarity 163 member B gene DOID:630 genetic disease ISO RGD:1604863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754468 CNTNAP4 contactin associated protein family member 4 gene DOID:630 genetic disease ISO RGD:1315089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754468 CNTNAP4 contactin associated protein family member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1315089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11754501 TEX35 testis expressed 35 gene DOID:1540 parathyroid carcinoma ISO RGD:1348676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11754501 TEX35 testis expressed 35 gene DOID:630 genetic disease ISO RGD:1348676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754501 TEX35 testis expressed 35 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1348676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11754501 TEX35 testis expressed 35 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11754534 UCK2 uridine-cytidine kinase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1602230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11754534 UCK2 uridine-cytidine kinase 2 gene DOID:1793 pancreatic cancer ISO RGD:1602230 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic neoplasm (human) PMID:12149149|REF_RGD_ID:5133269 11754534 UCK2 uridine-cytidine kinase 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1602230 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11754534 UCK2 uridine-cytidine kinase 2 gene DOID:630 genetic disease ISO RGD:1602230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754534 UCK2 uridine-cytidine kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1602230 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 11754534 UCK2 uridine-cytidine kinase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620742 D RGD:9068941 20200609 RGD protein:decreased activity:heart, skeletal muscle PMID:221781|REF_RGD_ID:2317214 11754534 UCK2 uridine-cytidine kinase 2 gene DOID:9006205 Animal Disease Models ISO RGD:1602230 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11754534 UCK2 uridine-cytidine kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11754544 CPEB3 cytoplasmic polyadenylation element binding protein 3 gene DOID:630 genetic disease ISO RGD:1348549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754544 CPEB3 cytoplasmic polyadenylation element binding protein 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1348549 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11754562 LOC100990936 olfactory receptor 4A5 gene DOID:1059 intellectual disability ISO RGD:1343611 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Intellectual disability 11754562 LOC100990936 olfactory receptor 4A5 gene DOID:630 genetic disease ISO RGD:1343611 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754572 DKK2 dickkopf WNT signaling pathway inhibitor 2 gene DOID:630 genetic disease ISO RGD:1344026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754581 MSI1 musashi RNA binding protein 1 gene DOID:2316 brain ischemia ISO RGD:628778 D RGD:9068941 20200609 RGD PMID:12205668|REF_RGD_ID:633285 11754581 MSI1 musashi RNA binding protein 1 gene DOID:3454 brain infarction ISO RGD:628778 D RGD:9068941 20200609 RGD PMID:15250238|REF_RGD_ID:1582664 11754581 MSI1 musashi RNA binding protein 1 gene DOID:630 genetic disease ISO RGD:731816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754600 PIAS4 protein inhibitor of activated STAT 4 gene DOID:13938 amenorrhea ISO RGD:1318687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11754600 PIAS4 protein inhibitor of activated STAT 4 gene DOID:630 genetic disease ISO RGD:1318687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754615 TXNL4B thioredoxin like 4B gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1344635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11754615 TXNL4B thioredoxin like 4B gene DOID:630 genetic disease ISO RGD:1344635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754632 TENM3 teneurin transmembrane protein 3 gene DOID:0080820 occupational asthma ISO RGD:1315371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25918132 11754632 TENM3 teneurin transmembrane protein 3 gene DOID:2661 myoepithelioma ISO RGD:1315371 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11754632 TENM3 teneurin transmembrane protein 3 gene DOID:630 genetic disease ISO RGD:1315371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11754632 TENM3 teneurin transmembrane protein 3 gene DOID:9001920 Isolated Microphthalmia with Coloboma 9 ISO RGD:1315371 D RGD:7240710 20180130 OMIM 11754632 TENM3 teneurin transmembrane protein 3 gene DOID:9001920 Isolated Microphthalmia with Coloboma 9 ISO RGD:1315371 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: MICROPHTHALMIA, SYNDROMIC 15 | ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 9 PMID:22766609|PMID:25741868|PMID:27103084|PMID:28492532|PMID:29753094|PMID:30513139|PMID:32799327|PMID:33456446 11754632 TENM3 teneurin transmembrane protein 3 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1315371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 11754669 DDIAS DNA damage induced apoptosis suppressor gene DOID:1059 intellectual disability ISO RGD:1602966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11754669 DDIAS DNA damage induced apoptosis suppressor gene DOID:630 genetic disease ISO RGD:1602966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754692 FOXK1 forkhead box K1 gene DOID:11372 megacolon ISO RGD:1604502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11754692 FOXK1 forkhead box K1 gene DOID:630 genetic disease ISO RGD:1604502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754715 ZNF660 zinc finger protein 660 gene DOID:630 genetic disease ISO RGD:1346042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754731 FCAR Fc alpha receptor gene DOID:0050855 renal fibrosis ISO RGD:1344251 D RGD:9068941 20200609 RGD PMID:18250479|REF_RGD_ID:7242172 11754731 FCAR Fc alpha receptor gene DOID:12132 granulomatosis with polyangiitis ISO RGD:1344251 D RGD:9068941 20200609 RGD PMID:22147912|REF_RGD_ID:7242064 11754731 FCAR Fc alpha receptor gene DOID:2986 IgA glomerulonephritis ISO RGD:1344251 D RGD:9068941 20200609 RGD PMID:21985370|PMID:22451718|REF_RGD_ID:7242063|REF_RGD_ID:7242167 11754731 FCAR Fc alpha receptor gene DOID:630 genetic disease ISO RGD:1344251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754749 CNR2 cannabinoid receptor 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:732246 D RGD:9068941 20210212 CTD CTD Direct Evidence: therapeutic PMID:30102254 11754749 CNR2 cannabinoid receptor 2 gene DOID:11446 sciatic neuropathy treatment ISO RGD:619713 D RGD:9068941 20200609 RGD PMID:19345493|REF_RGD_ID:2316195 11754749 CNR2 cannabinoid receptor 2 gene DOID:12858 Huntington's disease ISO RGD:1553231 D RGD:9068941 20200609 RGD PMID:19115380|REF_RGD_ID:2316196 11754749 CNR2 cannabinoid receptor 2 gene DOID:12858 Huntington's disease ISO RGD:619713 D RGD:9068941 20200609 RGD PMID:19115380|REF_RGD_ID:2316196 11754749 CNR2 cannabinoid receptor 2 gene DOID:13250 diarrhea ISO RGD:732246 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:27611972 11754749 CNR2 cannabinoid receptor 2 gene DOID:13548 secondary Parkinson disease ISO RGD:732246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27317300 11754749 CNR2 cannabinoid receptor 2 gene DOID:13580 cholestasis ISO RGD:732246 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:26884397 11754749 CNR2 cannabinoid receptor 2 gene DOID:1596 depressive disorder ISO RGD:732246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18286196 11754749 CNR2 cannabinoid receptor 2 gene DOID:1793 pancreatic cancer ISO RGD:732246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16818650 11754749 CNR2 cannabinoid receptor 2 gene DOID:1936 atherosclerosis ISO RGD:732246 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15815632 11754749 CNR2 cannabinoid receptor 2 gene DOID:2055 post-traumatic stress disorder ISO RGD:732246 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:34262461 11754749 CNR2 cannabinoid receptor 2 gene DOID:2914 immune system disease ISO RGD:732246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16924491 11754749 CNR2 cannabinoid receptor 2 gene DOID:418 systemic scleroderma ISO RGD:732246 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27228633 11754749 CNR2 cannabinoid receptor 2 gene DOID:4195 hyperglycemia ISO RGD:732246 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:32365865 11754749 CNR2 cannabinoid receptor 2 gene DOID:4989 pancreatitis ISO RGD:619713 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas, acinar cell PMID:19070664|REF_RGD_ID:2316197 11754749 CNR2 cannabinoid receptor 2 gene DOID:4989 pancreatitis ISO RGD:732246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17484889 11754749 CNR2 cannabinoid receptor 2 gene DOID:5082 liver cirrhosis ISO RGD:732246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15765409 11754749 CNR2 cannabinoid receptor 2 gene DOID:630 genetic disease ISO RGD:732246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754749 CNR2 cannabinoid receptor 2 gene DOID:848 arthritis ISO RGD:619713 D RGD:9068941 20200609 RGD PMID:18075852|REF_RGD_ID:2316223 11754749 CNR2 cannabinoid receptor 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:619713 D RGD:9068941 20200609 RGD PMID:18930143|REF_RGD_ID:2316199 11754749 CNR2 cannabinoid receptor 2 gene DOID:9000641 Pain ISO RGD:619713 D RGD:9068941 20200609 RGD PMID:19409856|REF_RGD_ID:2316193 11754749 CNR2 cannabinoid receptor 2 gene DOID:9000920 Anterior Cruciate Ligament Injuries ISO RGD:732246 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34537380 11754749 CNR2 cannabinoid receptor 2 gene DOID:9001981 Weight Loss ISO RGD:732246 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:27611972|PMID:30102254 11754749 CNR2 cannabinoid receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:732246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17572696|PMID:18664590 11754749 CNR2 cannabinoid receptor 2 gene DOID:9003805 Catalepsy ISO RGD:732246 D RGD:9068941 20201218 CTD CTD Direct Evidence: therapeutic PMID:31877572 11754749 CNR2 cannabinoid receptor 2 gene DOID:9006205 Animal Disease Models ISO RGD:732246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27317300 11754749 CNR2 cannabinoid receptor 2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:732246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11754749 CNR2 cannabinoid receptor 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:732246 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:29805589 11754749 CNR2 cannabinoid receptor 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:619713 D RGD:9068941 20200609 RGD PMID:17950273|REF_RGD_ID:2316224 11754749 CNR2 cannabinoid receptor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16818634 11754749 CNR2 cannabinoid receptor 2 gene DOID:9009039 Hyperemia ISO RGD:732246 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:27611972 11754749 CNR2 cannabinoid receptor 2 gene DOID:9119 acute myeloid leukemia ISO RGD:732246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15039279 11754769 C2AH2orf15 chromosome 2A C2orf15 homolog gene DOID:630 genetic disease ISO RGD:1349020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754811 ITGAV integrin subunit alpha V gene DOID:0050852 limb ischemia ISO RGD:1617623 D RGD:9068941 20200609 RGD PMID:15750161|REF_RGD_ID:1582449 11754811 ITGAV integrin subunit alpha V gene DOID:10763 hypertension ISO RGD:1310613 D RGD:9068941 20200609 RGD protein:increased expression:artery PMID:16380536|REF_RGD_ID:1627642 11754811 ITGAV integrin subunit alpha V gene DOID:11382 corneal neovascularization ISO RGD:1310613 D RGD:9068941 20200609 RGD PMID:10664059|REF_RGD_ID:1582461 11754811 ITGAV integrin subunit alpha V gene DOID:326 ischemia ISO RGD:1310613 D RGD:9068941 20200609 RGD PMID:15956135|REF_RGD_ID:1582457 11754811 ITGAV integrin subunit alpha V gene DOID:4195 hyperglycemia ISO RGD:1321618 D RGD:9068941 20200609 RGD mRNA:increased expression:blood vessel endothelial cell PMID:11848444|REF_RGD_ID:1627644 11754811 ITGAV integrin subunit alpha V gene DOID:4248 coronary stenosis ISO RGD:1310613 D RGD:9068941 20200609 RGD PMID:11922905|REF_RGD_ID:1582454 11754811 ITGAV integrin subunit alpha V gene DOID:630 genetic disease ISO RGD:1321618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754811 ITGAV integrin subunit alpha V gene DOID:7693 abdominal aortic aneurysm ISO RGD:1321618 D RGD:9068941 20200609 RGD PMID:16809548|REF_RGD_ID:1582446 11754811 ITGAV integrin subunit alpha V gene DOID:9001044 Choroidal Neovascularization ISO RGD:1310613 D RGD:9068941 20200609 RGD PMID:15287373|REF_RGD_ID:1582458 11754811 ITGAV integrin subunit alpha V gene DOID:9002170 Experimental Neoplasms treatment ISO RGD:1321618 D RGD:9068941 20220708 RGD human cells in rat model PMID:20841470|REF_RGD_ID:152998949 11754811 ITGAV integrin subunit alpha V gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1321618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9445356 11754811 ITGAV integrin subunit alpha V gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1321618 D RGD:9068941 20200609 RGD PMID:16102435|REF_RGD_ID:1582447 11754811 ITGAV integrin subunit alpha V gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11754811 ITGAV integrin subunit alpha V gene DOID:9006646 Metabolic Syndrome ISO RGD:1321618 D RGD:9068941 20200609 RGD PMID:16784924|REF_RGD_ID:1627640 11754811 ITGAV integrin subunit alpha V gene DOID:9007096 Stroke ISO RGD:1321618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9445356 11754811 ITGAV integrin subunit alpha V gene DOID:9007102 Myocardial Ischemia ISO RGD:1321618 D RGD:9068941 20200609 RGD PMID:11997283|REF_RGD_ID:1582453 11754811 ITGAV integrin subunit alpha V gene DOID:9007748 Retinal Neovascularization ISO RGD:1617623 D RGD:9068941 20200609 RGD PMID:12063036|REF_RGD_ID:1582452 11754811 ITGAV integrin subunit alpha V gene DOID:9009121 lung metastasis treatment ISO RGD:1321618 D RGD:9068941 20220708 RGD human cells in rat model PMID:20841470|REF_RGD_ID:152998949 11754811 ITGAV integrin subunit alpha V gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1321618 D RGD:9068941 20200609 RGD PMID:23770013|REF_RGD_ID:10755448 11754860 DHH desert hedgehog signaling molecule gene DOID:0111774 46,XY sex reversal 7 ISO RGD:1345874 D RGD:7240710 20180130 OMIM 11754860 DHH desert hedgehog signaling molecule gene DOID:0111774 46,XY sex reversal 7 ISO RGD:1345874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 7 PMID:15356051|PMID:25741868|PMID:28492532|PMID:30298535 11754860 DHH desert hedgehog signaling molecule gene DOID:14448 46,XY sex reversal ISO RGD:1345874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46,XY DSD/46,XY CGD 11754860 DHH desert hedgehog signaling molecule gene DOID:14448 46,XY sex reversal susceptibility ISO RGD:1345874 D RGD:9068941 20200609 RGD DNA:missense mutation:exon PMID:11017805|REF_RGD_ID:1601053 11754860 DHH desert hedgehog signaling molecule gene DOID:1923 disorder of sexual development ISO RGD:1345874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 11754860 DHH desert hedgehog signaling molecule gene DOID:630 genetic disease ISO RGD:1345874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754860 DHH desert hedgehog signaling molecule gene DOID:9006824 46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy ISO RGD:1345874 D RGD:7240710 20180130 OMIM 11754860 DHH desert hedgehog signaling molecule gene DOID:9006824 46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy ISO RGD:1345874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy PMID:11017805|PMID:11891836|PMID:25927242|PMID:28589169|PMID:28708305|PMID:29471294 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0050453 lissencephaly ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:16199547|PMID:23603762|PMID:25140959|PMID:25326635|PMID:25609763|PMID:25741868|PMID:28135719|PMID:28196890|PMID:28492532|PMID:29671837|PMID:33818783 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1351274 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:25741868 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1351274 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:10862709|PMID:23664119|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25741868|PMID:26100331|PMID:27549087|PMID:28196890|PMID:28492532|PMID:28554554 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0050781 Ogden syndrome ISO RGD:1351274 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Ogden syndrome PMID:25741868 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1351274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532|PMID:30504930 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0060160 childhood spinal muscular atrophy ISO RGD:1351274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070043 autosomal dominant intellectual developmental disorder 13 ISO RGD:1351274 D RGD:7240710 20180130 OMIM 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070043 autosomal dominant intellectual developmental disorder 13 ISO RGD:1351274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 13 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 13 PMID:10862709|PMID:17576681|PMID:18414213|PMID:21076407|PMID:22368300|PMID:23603762|PMID:23664119|PMID:24033266|PMID:24136616|PMID:25140959|PMID:25326635|PMID:25326637|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25609763|PMID:25700176|PMID:25741868|PMID:25741869|PMID:26100331|PMID:26344056|PMID:26378787|PMID:26392352|PMID:26467025|PMID:27549087|PMID:28135719|PMID:28196890|PMID:28492532|PMID:28554554|PMID:28602352|PMID:29314763|PMID:29671837|PMID:29706646|PMID:30687093|PMID:32238909|PMID:9536098 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070043 autosomal dominant intellectual developmental disorder 13 ISO RGD:1351274 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 13 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 13 PMID:10862709|PMID:17576681|PMID:18414213|PMID:21076407|PMID:22368300|PMID:23603762|PMID:23664119|PMID:24033266|PMID:24136616|PMID:25140959|PMID:25326635|PMID:25326637|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25590979|PMID:25609763|PMID:25700176|PMID:25741868|PMID:25741869|PMID:26100331|PMID:26344056|PMID:26378787|PMID:26392352|PMID:26467025|PMID:27549087|PMID:27754416|PMID:28135719|PMID:28196890|PMID:28492532|PMID:28554554|PMID:28602352|PMID:29286531|PMID:29314763|PMID:29671837|PMID:29706646|PMID:30687093|PMID:32238909|PMID:9536098 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:28492532 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070348 spinal muscular atrophy with predominant lower extremity ISO RGD:1351274 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy with lower extremity predominance PMID:23664120|PMID:25512093|PMID:25609763|PMID:25741868|PMID:26100331|PMID:27066557|PMID:29671837|PMID:32788638 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070351 spinal muscular atrophy with predominant lower extremity 1 ISO RGD:1351274 D RGD:7240710 20180704 OMIM 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070351 spinal muscular atrophy with predominant lower extremity 1 ISO RGD:1351274 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, CHILDHOOD, PROXIMAL, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant PMID:10862709|PMID:12730604|PMID:17576681|PMID:18414213|PMID:20697106|PMID:21102439|PMID:21820100|PMID:22459677|PMID:22847149|PMID:23603762|PMID:23664119|PMID:24033266|PMID:25326635|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25609763|PMID:25700176|PMID:25741868|PMID:26100331|PMID:26344056|PMID:26392352|PMID:26467025|PMID:26846447|PMID:27331017|PMID:27549087|PMID:28196890|PMID:28492532|PMID:28554554|PMID:28602352|PMID:29314763|PMID:29379136|PMID:30122514|PMID:30168217|PMID:30687093|PMID:31364990|PMID:31618753|PMID:9536098 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0080067 Charcot-Marie-Tooth disease type 5 ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 5 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1351274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23603762 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1351274 D RGD:7240710 20180130 OMIM 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1351274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:10862709|PMID:15826937|PMID:16199547|PMID:16519653|PMID:17576681|PMID:18414213|PMID:19074350|PMID:20301532|PMID:21076407|PMID:21820100|PMID:22368300|PMID:22459677|PMID:22847149|PMID:23603762|PMID:23664119|PMID:24033266|PMID:24136616|PMID:24307404|PMID:25140959|PMID:25326635|PMID:25363760|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25590979|PMID:25609763|PMID:25700176|PMID:25741868|PMID:26100331|PMID:26344056|PMID:26378787|PMID:26392352|PMID:26395554|PMID:26467025|PMID:26633542|PMID:26795593|PMID:26846447|PMID:27066557|PMID:27331017|PMID:27549087|PMID:27754416|PMID:28135719|PMID:28193117|PMID:28196890|PMID:28263302|PMID:28325891|PMID:28492532|PMID:28554332|PMID:28554554|PMID:28602352|PMID:28783747|PMID:29243232|PMID:29286531|PMID:29314763|PMID:29379136|PMID:29653220|PMID:29671837|PMID:30031633|PMID:30122514|PMID:30168217|PMID:30504930|PMID:30687093|PMID:31127727|PMID:31164858|PMID:31278258|PMID:31364990|PMID:31372974|PMID:31618753|PMID:31680123|PMID:32238909|PMID:32376792|PMID:32656949|PMID:32788638|PMID:32947049|PMID:35099838|PMID:9536098|PMID:9781046 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy PMID:12730604|PMID:20697106|PMID:21102439|PMID:22459677|PMID:23664120|PMID:25326635|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25609763|PMID:25741868|PMID:26100331|PMID:27066557|PMID:27549087|PMID:28492532|PMID:28554554|PMID:29671837|PMID:32788638 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:25635128 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:28492532|PMID:31680123 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:1059 intellectual disability ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23603762|PMID:25741868|PMID:26100331|PMID:26392352|PMID:26467025|PMID:28166811|PMID:28196890|PMID:28492532|PMID:29671837 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:1059 intellectual disability ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar Annotator: match by term: Intellectual disability PMID:23603762|PMID:25741868|PMID:26100331|PMID:26467025|PMID:28196890|PMID:28492532|PMID:29671837|PMID:31164858 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:17576681|PMID:18414213|PMID:21820100|PMID:22847149|PMID:24033266|PMID:24136616|PMID:25025039|PMID:25741868|PMID:26100331|PMID:26344056|PMID:26378787|PMID:26467025|PMID:28492532|PMID:29379136|PMID:30504930|PMID:9536098 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:10652 Alzheimer's disease ISO RGD:1351274 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:9402150|REF_RGD_ID:13207349 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:10907 microcephaly ISO RGD:1351274 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:23603762 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:12377 spinal muscular atrophy ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Spinal muscular atrophy PMID:25512093|PMID:28492532 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:1389 polyneuropathy ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:28492532 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1351274 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:17576681|PMID:18414213|PMID:24033266|PMID:24136616|PMID:25741868|PMID:26100331|PMID:26344056|PMID:26378787|PMID:26467025|PMID:27066557|PMID:28492532|PMID:30031633|PMID:30504930|PMID:9536098 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:1826 epilepsy ISO RGD:1351274 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:29671837|PMID:33818783 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:2477 motor peripheral neuropathy ISO RGD:1351274 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:10862709|PMID:23664119|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25741868|PMID:26100331|PMID:27549087|PMID:28196890|PMID:28492532|PMID:28554554 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1351274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:423 myopathy ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868|PMID:26392352|PMID:26633542|PMID:28492532|PMID:30122514 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:574 peripheral nervous system disease ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10862709|PMID:25741868|PMID:26392352|PMID:28492532|PMID:30122514 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:630 genetic disease ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10862709|PMID:11250194|PMID:15826937|PMID:16519653|PMID:17576681|PMID:18414213|PMID:18466635|PMID:19074350|PMID:21076407|PMID:21820100|PMID:22368300|PMID:22398446|PMID:22426545|PMID:22459677|PMID:22847149|PMID:23603762|PMID:23664119|PMID:24033266|PMID:24136616|PMID:24307404|PMID:25363760|PMID:25417161|PMID:25470043|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25533962|PMID:25590979|PMID:25609763|PMID:25700176|PMID:25741868|PMID:26100331|PMID:26344056|PMID:26378787|PMID:26392352|PMID:26395554|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27066557|PMID:27331017|PMID:27549087|PMID:27754416|PMID:28193117|PMID:28196890|PMID:28263302|PMID:28325891|PMID:28492532|PMID:28554554|PMID:28602352|PMID:29243232|PMID:29286531|PMID:29314763|PMID:29653220|PMID:30031633|PMID:301071|PMID:30122514|PMID:31164858|PMID:31372974|PMID:32238909|PMID:9536098|PMID:9781046 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:870 neuropathy ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10862709|PMID:25741868|PMID:26392352|PMID:28492532|PMID:30122514 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1351274 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1351274 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant PMID:18414213|PMID:24033266|PMID:25741868|PMID:26344056|PMID:26467025|PMID:28492532 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:9005532 Muscle Weakness ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive muscle weakness PMID:25741868|PMID:28492532|PMID:32656949 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11754867 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25590979|PMID:25741868|PMID:27754416|PMID:28492532|PMID:29286531 11754949 HECTD4 HECT domain E3 ubiquitin protein ligase 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1606926 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11754949 HECTD4 HECT domain E3 ubiquitin protein ligase 4 gene DOID:251 alcohol-induced mental disorder ISO RGD:1606926 D RGD:9068941 20230128 CTD CTD Direct Evidence: marker/mechanism PMID:35713687 11754949 HECTD4 HECT domain E3 ubiquitin protein ligase 4 gene DOID:3393 coronary artery disease ISO RGD:1606926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22751097 11754949 HECTD4 HECT domain E3 ubiquitin protein ligase 4 gene DOID:630 genetic disease ISO RGD:1606926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11754949 HECTD4 HECT domain E3 ubiquitin protein ligase 4 gene DOID:9003289 NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM ISO RGD:1606926 D RGD:7240710 20230505 OMIM 11754949 HECTD4 HECT domain E3 ubiquitin protein ligase 4 gene DOID:9003289 NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM ISO RGD:1606926 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum PMID:36401616 11754949 HECTD4 HECT domain E3 ubiquitin protein ligase 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1606926 D RGD:9068941 20230128 CTD CTD Direct Evidence: marker/mechanism PMID:35713687 11755043 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:735608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 11755043 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:10652 Alzheimer's disease ISO RGD:731513 D RGD:9068941 20200609 RGD protein:increased phosphorylation:hippocampus PMID:24315369|REF_RGD_ID:10395344 11755043 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:10652 Alzheimer's disease ISO RGD:735608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17406652 11755043 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:10652 Alzheimer's disease ISO RGD:735608 D RGD:9068941 20200609 RGD PMID:16691116|REF_RGD_ID:10395316 11755043 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:10652 Alzheimer's disease severity ISO RGD:735608 D RGD:9068941 20200609 RGD PMID:16954686|REF_RGD_ID:10395343 11755043 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:1561 cognitive disorder ISO RGD:735608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17406652 11755043 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:1824 status epilepticus ISO RGD:735608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15003282 11755043 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:224 transient cerebral ischemia ISO RGD:620963 D RGD:9068941 20200609 RGD associated with Heart Arrest PMID:10541873|REF_RGD_ID:11041881 11755043 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:224 transient cerebral ischemia ISO RGD:731513 D RGD:9068941 20200609 RGD PMID:11520898|REF_RGD_ID:10395353 11755043 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:3347 osteosarcoma ISO RGD:735608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14767549 11755043 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:620963 D RGD:9068941 20200609 RGD PMID:19763736|PMID:23669639|REF_RGD_ID:10395346|REF_RGD_ID:10755569 11755043 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:630 genetic disease ISO RGD:735608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755043 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:9000998 Brain Injuries ISO RGD:620963 D RGD:9068941 20200609 RGD PMID:11526986|REF_RGD_ID:10395358 11755043 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:620963 D RGD:9068941 20200609 RGD PMID:21059295|REF_RGD_ID:10395351 11755043 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:9002955 Nerve Degeneration ISO RGD:735608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16492139 11755043 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620963 D RGD:9068941 20200609 RGD PMID:8092984|REF_RGD_ID:10395352 11755043 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:9004009 Reperfusion Injury ISO RGD:620963 D RGD:9068941 20200609 RGD protein:increased phosphorylation:kidney PMID:15936177|REF_RGD_ID:1581062 11755043 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:9004484 Sepsis ISO RGD:620963 D RGD:9068941 20200609 RGD PMID:8141277|REF_RGD_ID:10395355 11755043 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:9008824 Sarcopenia ISO RGD:620963 D RGD:9068941 20200609 RGD PMID:15187001|REF_RGD_ID:10395315 11755058 RBBP9 RB binding protein 9, serine hydrolase gene DOID:0111401 congenital dyserythropoietic anemia type II ISO RGD:1349258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II PMID:28492532 11755058 RBBP9 RB binding protein 9, serine hydrolase gene DOID:630 genetic disease ISO RGD:1349258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755067 ADGRA2 adhesion G protein-coupled receptor A2 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1312494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 11755067 ADGRA2 adhesion G protein-coupled receptor A2 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1312494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 11755067 ADGRA2 adhesion G protein-coupled receptor A2 gene DOID:3070 high grade glioma ISO RGD:1312494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11755067 ADGRA2 adhesion G protein-coupled receptor A2 gene DOID:607 paraplegia ISO RGD:1312494 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11755067 ADGRA2 adhesion G protein-coupled receptor A2 gene DOID:630 genetic disease ISO RGD:1312494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755090 PPIB peptidylprolyl isomerase B gene DOID:0110349 osteogenesis imperfecta type 9 ISO RGD:732990 D RGD:7240710 20180130 OMIM 11755090 PPIB peptidylprolyl isomerase B gene DOID:0110349 osteogenesis imperfecta type 9 ISO RGD:732990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 9 PMID:19781681|PMID:20089953|PMID:20484404|PMID:21239989|PMID:21282188|PMID:25741868|PMID:27509835|PMID:28492532|PMID:29620724 11755090 PPIB peptidylprolyl isomerase B gene DOID:0110935 nemaline myopathy 6 ISO RGD:732990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11755090 PPIB peptidylprolyl isomerase B gene DOID:12347 osteogenesis imperfecta ISO RGD:732990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:19781681|PMID:21239989|PMID:21282188|PMID:25741868|PMID:27509835|PMID:28492532 11755090 PPIB peptidylprolyl isomerase B gene DOID:2717 Bloom syndrome ISO RGD:732990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11755090 PPIB peptidylprolyl isomerase B gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:732990 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11755090 PPIB peptidylprolyl isomerase B gene DOID:630 genetic disease ISO RGD:732990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11755090 PPIB peptidylprolyl isomerase B gene DOID:9256 colorectal cancer ISO RGD:732990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11755099 LAMTOR3 late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 gene DOID:630 genetic disease ISO RGD:1316146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755110 DUSP6 dual specificity phosphatase 6 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:731297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11755110 DUSP6 dual specificity phosphatase 6 gene DOID:0090090 hypogonadotropic hypogonadism 19 with or without anosmia ISO RGD:731297 D RGD:7240710 20180130 OMIM 11755110 DUSP6 dual specificity phosphatase 6 gene DOID:0090090 hypogonadotropic hypogonadism 19 with or without anosmia ISO RGD:731297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 19 with or without anosmia PMID:23643382|PMID:25741868|PMID:28492532 11755110 DUSP6 dual specificity phosphatase 6 gene DOID:11832 visual epilepsy ISO RGD:70978 D RGD:9068941 20200609 RGD PMID:8626780|REF_RGD_ID:728656 11755110 DUSP6 dual specificity phosphatase 6 gene DOID:11832 visual epilepsy ISO RGD:70978 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:15496935|REF_RGD_ID:2316089 11755110 DUSP6 dual specificity phosphatase 6 gene DOID:1612 breast cancer ISO RGD:731297 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland PMID:12618338|REF_RGD_ID:7495809 11755110 DUSP6 dual specificity phosphatase 6 gene DOID:2316 brain ischemia ISO RGD:70978 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:10908038|REF_RGD_ID:2316092 11755110 DUSP6 dual specificity phosphatase 6 gene DOID:305 carcinoma ISO RGD:731297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11755110 DUSP6 dual specificity phosphatase 6 gene DOID:3068 glioblastoma ISO RGD:731297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499306 11755110 DUSP6 dual specificity phosphatase 6 gene DOID:4989 pancreatitis ISO RGD:70978 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:11027531|REF_RGD_ID:2301725 11755110 DUSP6 dual specificity phosphatase 6 gene DOID:630 genetic disease ISO RGD:731297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11755110 DUSP6 dual specificity phosphatase 6 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11755110 DUSP6 dual specificity phosphatase 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11755110 DUSP6 dual specificity phosphatase 6 gene DOID:9002211 Hyperalgesia treatment ISO RGD:70978 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:22901764|REF_RGD_ID:7771531 11755110 DUSP6 dual specificity phosphatase 6 gene DOID:9003971 Postoperative Pain ISO RGD:731298 D RGD:9068941 20200609 RGD associated with Inflammation PMID:24155322|REF_RGD_ID:7771585 11755110 DUSP6 dual specificity phosphatase 6 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11755110 DUSP6 dual specificity phosphatase 6 gene DOID:9007102 Myocardial Ischemia ISO RGD:731297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11755110 DUSP6 dual specificity phosphatase 6 gene DOID:9065 leishmaniasis treatment ISO RGD:731298 D RGD:9068941 20200609 RGD PMID:21471446|REF_RGD_ID:7771536 11755117 HSDL2 hydroxysteroid dehydrogenase like 2 gene DOID:630 genetic disease ISO RGD:1350650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755117 HSDL2 hydroxysteroid dehydrogenase like 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1350650 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 11755135 ZNF334 zinc finger protein 334 gene DOID:2234 focal epilepsy ISO RGD:1318499 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11755135 ZNF334 zinc finger protein 334 gene DOID:630 genetic disease ISO RGD:1318499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755171 MED17 mediator complex subunit 17 gene DOID:0111262 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ISO RGD:1322408 D RGD:7240710 20180130 OMIM 11755171 MED17 mediator complex subunit 17 gene DOID:0111262 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ISO RGD:1322408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly PMID:18414213|PMID:20950787|PMID:25741868|PMID:26004231|PMID:26240385|PMID:28492532|PMID:30345598|PMID:30919572 11755171 MED17 mediator complex subunit 17 gene DOID:1059 intellectual disability ISO RGD:1322408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11755171 MED17 mediator complex subunit 17 gene DOID:10907 microcephaly ISO RGD:1322408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11755171 MED17 mediator complex subunit 17 gene DOID:289 endometriosis ISO RGD:1322408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 11755171 MED17 mediator complex subunit 17 gene DOID:630 genetic disease ISO RGD:1322408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20950787|PMID:26004231|PMID:28492532|PMID:30345598 11755188 LOC100978423 tryptase beta-2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1348891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 11755188 LOC100978423 tryptase beta-2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1348891 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11755188 LOC100978423 tryptase beta-2 gene DOID:1826 epilepsy ISO RGD:1348891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11755188 LOC100978423 tryptase beta-2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1348891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11755188 LOC100978423 tryptase beta-2 gene DOID:630 genetic disease ISO RGD:1348891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755188 LOC100978423 tryptase beta-2 gene DOID:9000058 Keloid ISO RGD:1348891 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 11755229 TGIF1 TGFB induced factor homeobox 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1321463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11755229 TGIF1 TGFB induced factor homeobox 1 gene DOID:0110880 holoprosencephaly 4 ISO RGD:1321463 D RGD:7240710 20190315 OMIM 11755229 TGIF1 TGFB induced factor homeobox 1 gene DOID:0110880 holoprosencephaly 4 ISO RGD:1321463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 4 PMID:10835638|PMID:11810641|PMID:12522553|PMID:16199538|PMID:16962354|PMID:17001671|PMID:19431187|PMID:21940735|PMID:22125506|PMID:22859937|PMID:24123366|PMID:25741868|PMID:28492532|PMID:30157302 11755229 TGIF1 TGFB induced factor homeobox 1 gene DOID:1059 intellectual disability ISO RGD:1321463 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11755229 TGIF1 TGFB induced factor homeobox 1 gene DOID:10754 otitis media ISO RGD:1321464 D RGD:9068941 20220825 MouseDO OMIM:166760 11755229 TGIF1 TGFB induced factor homeobox 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1321463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 11755229 TGIF1 TGFB induced factor homeobox 1 gene DOID:1923 disorder of sexual development ISO RGD:1321463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 11755229 TGIF1 TGFB induced factor homeobox 1 gene DOID:4621 holoprosencephaly ISO RGD:1321463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:25741868|PMID:28492532 11755229 TGIF1 TGFB induced factor homeobox 1 gene DOID:630 genetic disease ISO RGD:1321463 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11755229 TGIF1 TGFB induced factor homeobox 1 gene DOID:767 muscular atrophy ISO RGD:1310517 D RGD:9068941 20200609 RGD associated with Carcinoma, Hepatocellular; mRNA:increased expression:gastrocnemius muscle (rat) PMID:14718385|REF_RGD_ID:1641826 11755229 TGIF1 TGFB induced factor homeobox 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1321463 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29746904 11755229 TGIF1 TGFB induced factor homeobox 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1310517 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus (rat) PMID:15153551|REF_RGD_ID:1599409 11755229 TGIF1 TGFB induced factor homeobox 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1321463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25791921 11755229 TGIF1 TGFB induced factor homeobox 1 gene DOID:9005523 Majeed Syndrome ISO RGD:1321463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Majeed syndrome PMID:28492532 11755268 RNF24 ring finger protein 24 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1319703 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11755268 RNF24 ring finger protein 24 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1319703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11755268 RNF24 ring finger protein 24 gene DOID:630 genetic disease ISO RGD:1319703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755282 KHDC1L KH domain containing 1 like gene DOID:3659 sialuria ISO RGD:3340258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 11755282 KHDC1L KH domain containing 1 like gene DOID:630 genetic disease ISO RGD:3340258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755289 SLC39A6 solute carrier family 39 member 6 gene DOID:1059 intellectual disability ISO RGD:1312236 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11755289 SLC39A6 solute carrier family 39 member 6 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1312236 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23644492 11755289 SLC39A6 solute carrier family 39 member 6 gene DOID:630 genetic disease ISO RGD:1312236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755289 SLC39A6 solute carrier family 39 member 6 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1312236 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12839489 11755289 SLC39A6 solute carrier family 39 member 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312236 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11755289 SLC39A6 solute carrier family 39 member 6 gene DOID:9008939 Breast Neoplasms ISO RGD:1312236 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12839489 11755309 RTL8C retrotransposon Gag like 8C gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11755309 RTL8C retrotransposon Gag like 8C gene DOID:12849 autistic disorder ISO RGD:1354377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11755314 SLC29A4 solute carrier family 29 member 4 gene DOID:11372 megacolon ISO RGD:1321510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11755314 SLC29A4 solute carrier family 29 member 4 gene DOID:630 genetic disease ISO RGD:1321510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755329 GLRA3 glycine receptor alpha 3 gene DOID:4001 ovarian carcinoma ISO RGD:732840 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 11755329 GLRA3 glycine receptor alpha 3 gene DOID:630 genetic disease ISO RGD:732840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755329 GLRA3 glycine receptor alpha 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11755344 IL17RE interleukin 17 receptor E gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1602300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 11755344 IL17RE interleukin 17 receptor E gene DOID:2843 long QT syndrome ISO RGD:1602300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11755344 IL17RE interleukin 17 receptor E gene DOID:630 genetic disease ISO RGD:1602300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755344 IL17RE interleukin 17 receptor E gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11755344 IL17RE interleukin 17 receptor E gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1602300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 11755344 IL17RE interleukin 17 receptor E gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1602300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 11755364 IL4 interleukin 4 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23962110 11755364 IL4 interleukin 4 gene DOID:0050625 biliary tract benign neoplasm ISO RGD:736306 D RGD:9068941 20200609 RGD PMID:18798553|REF_RGD_ID:2317263 11755364 IL4 interleukin 4 gene DOID:0050634 alopecia universalis ISO RGD:736306 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20671941|REF_RGD_ID:7829773 11755364 IL4 interleukin 4 gene DOID:0050700 cardiomyopathy ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7578376 11755364 IL4 interleukin 4 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:736306 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:7963654|REF_RGD_ID:7829823 11755364 IL4 interleukin 4 gene DOID:0060180 colitis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24314293 11755364 IL4 interleukin 4 gene DOID:0060180 colitis treatment ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:9389741|REF_RGD_ID:8142400 11755364 IL4 interleukin 4 gene DOID:0060496 respiratory allergy ISO RGD:10796 D RGD:9068941 20200609 RGD associated with Pneumonia, Pneumocystis carinii PMID:21343358|REF_RGD_ID:5128506 11755364 IL4 interleukin 4 gene DOID:0060496 respiratory allergy ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18394133 11755364 IL4 interleukin 4 gene DOID:0060500 drug allergy ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15867870|PMID:20485159 11755364 IL4 interleukin 4 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 11755364 IL4 interleukin 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736306 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11755364 IL4 interleukin 4 gene DOID:0080600 COVID-19 severity ISO RGD:736306 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 11755364 IL4 interleukin 4 gene DOID:0080745 polymyositis ISO RGD:736306 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:19953283|REF_RGD_ID:7794747 11755364 IL4 interleukin 4 gene DOID:0080822 aspirin-induced respiratory disease susceptibility ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNPs:promoter,5'UTR,intron:multiple PMID:20921925|REF_RGD_ID:11528633 11755364 IL4 interleukin 4 gene DOID:1003 pelvic inflammatory disease treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:24589604|REF_RGD_ID:10402794 11755364 IL4 interleukin 4 gene DOID:10113 trypanosomiasis treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:24731531|REF_RGD_ID:10402804 11755364 IL4 interleukin 4 gene DOID:10223 dermatomyositis ISO RGD:736306 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:19953283|REF_RGD_ID:7794747 11755364 IL4 interleukin 4 gene DOID:10316 pneumoconiosis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21857939 11755364 IL4 interleukin 4 gene DOID:10459 common cold ISO RGD:10796 D RGD:9068941 20200609 RGD associated with Asthma;mRNA, protein:increased expression:alveolar macrophage, respiratory system fluid/secretion PMID:20644177|REF_RGD_ID:4140459 11755364 IL4 interleukin 4 gene DOID:10652 Alzheimer's disease ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter PMID:20213229|REF_RGD_ID:10402788 11755364 IL4 interleukin 4 gene DOID:10952 nephritis ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:7967345|REF_RGD_ID:5128564 11755364 IL4 interleukin 4 gene DOID:11168 anogenital venereal wart ISO RGD:736306 D RGD:9068941 20201105 RGD protein:increased expression:peripheral blood mononuclear cells (human) PMID:23754510|REF_RGD_ID:40400714 11755364 IL4 interleukin 4 gene DOID:11168 anogenital venereal wart treatment ISO RGD:736306 D RGD:9068941 20200609 RGD PMID:16114559|REF_RGD_ID:7829774 11755364 IL4 interleukin 4 gene DOID:1184 nephrotic syndrome treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:24812565|REF_RGD_ID:10402803 11755364 IL4 interleukin 4 gene DOID:1205 allergic disease ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16095146|PMID:21625544 11755364 IL4 interleukin 4 gene DOID:12236 primary biliary cholangitis treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:20442198|REF_RGD_ID:7829828 11755364 IL4 interleukin 4 gene DOID:12306 vitiligo ISO RGD:736306 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:22342018|REF_RGD_ID:8663475 11755364 IL4 interleukin 4 gene DOID:12361 Graves' disease ISO RGD:736306 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 11755364 IL4 interleukin 4 gene DOID:12849 autistic disorder ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16360218 11755364 IL4 interleukin 4 gene DOID:12894 Sjogren's syndrome ISO RGD:10796 D RGD:9068941 20220825 MouseDO OMIM:270150 11755364 IL4 interleukin 4 gene DOID:13001 carotid stenosis treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:20498142|REF_RGD_ID:7829829 11755364 IL4 interleukin 4 gene DOID:13241 Behcet's disease ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:-33T>C (human) PMID:21640045|REF_RGD_ID:5147902 11755364 IL4 interleukin 4 gene DOID:13375 temporal arteritis ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :rs2227284 (human) PMID:15570643|REF_RGD_ID:7829811 11755364 IL4 interleukin 4 gene DOID:13378 Kawasaki disease treatment ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:22367425|REF_RGD_ID:7829825 11755364 IL4 interleukin 4 gene DOID:13580 cholestasis ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:20031157|REF_RGD_ID:2317270 11755364 IL4 interleukin 4 gene DOID:1459 hypothyroidism treatment ISO RGD:2898 D RGD:9068941 20200903 RGD PMID:29896255|REF_RGD_ID:38549578 11755364 IL4 interleukin 4 gene DOID:1495 cystic echinococcosis treatment ISO RGD:736306 D RGD:9068941 20200609 RGD PMID:25726962|REF_RGD_ID:14696685 11755364 IL4 interleukin 4 gene DOID:1532 pleural disease ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21357438 11755364 IL4 interleukin 4 gene DOID:1561 cognitive disorder treatment ISO RGD:2898 D RGD:9068941 20200609 RGD associated with Radiation Injuries, Experimental PMID:24713401|REF_RGD_ID:10402800 11755364 IL4 interleukin 4 gene DOID:1679 cystitis ISO RGD:2898 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:18848347|REF_RGD_ID:2317284 11755364 IL4 interleukin 4 gene DOID:1790 malignant mesothelioma ISO RGD:736306 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 11755364 IL4 interleukin 4 gene DOID:1793 pancreatic cancer ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:10404069|REF_RGD_ID:2317267 11755364 IL4 interleukin 4 gene DOID:1793 pancreatic cancer ISO RGD:736306 D RGD:9068941 20200609 RGD PMID:12097255|REF_RGD_ID:2317265 11755364 IL4 interleukin 4 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:736306 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:19957810|REF_RGD_ID:2317261 11755364 IL4 interleukin 4 gene DOID:1883 hepatitis C ISO RGD:736306 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:28368861|REF_RGD_ID:14696680 11755364 IL4 interleukin 4 gene DOID:1883 hepatitis C susceptibility ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-589C>T (human) PMID:28368861|REF_RGD_ID:14696680 11755364 IL4 interleukin 4 gene DOID:1926 Gaucher's disease ISO RGD:10796 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:21223590|REF_RGD_ID:5128511 11755364 IL4 interleukin 4 gene DOID:2043 hepatitis B treatment ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2243250,rs2227284(human) PMID:28051794|REF_RGD_ID:14696676 11755364 IL4 interleukin 4 gene DOID:2048 autoimmune hepatitis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 11755364 IL4 interleukin 4 gene DOID:2048 autoimmune hepatitis ISO RGD:736306 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:30034292|REF_RGD_ID:14696683 11755364 IL4 interleukin 4 gene DOID:2048 autoimmune hepatitis susceptibility ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-590C>T,-33T>C (human) PMID:26735262|REF_RGD_ID:14696677 11755364 IL4 interleukin 4 gene DOID:2048 autoimmune hepatitis treatment ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:30034292|REF_RGD_ID:14696683 11755364 IL4 interleukin 4 gene DOID:2377 multiple sclerosis onset ISO RGD:736306 D RGD:9068941 20200806 RGD DNA:repeat:intron 3:allele B1 (human) PMID:9184650|REF_RGD_ID:1358745 11755364 IL4 interleukin 4 gene DOID:2723 dermatitis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31330126 11755364 IL4 interleukin 4 gene DOID:2772 irritant dermatitis ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:19690449|REF_RGD_ID:2317271 11755364 IL4 interleukin 4 gene DOID:2773 contact dermatitis treatment ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:12188032|REF_RGD_ID:7829776 11755364 IL4 interleukin 4 gene DOID:2799 bronchiolitis obliterans ISO RGD:2898 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18557728|REF_RGD_ID:2317286 11755364 IL4 interleukin 4 gene DOID:2841 asthma ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:21375458|REF_RGD_ID:5128557 11755364 IL4 interleukin 4 gene DOID:2841 asthma ISO RGD:10796 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:21354484|REF_RGD_ID:5128502 11755364 IL4 interleukin 4 gene DOID:2841 asthma ISO RGD:2898 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, spleen PMID:21364926|REF_RGD_ID:5128500 11755364 IL4 interleukin 4 gene DOID:2841 asthma ISO RGD:2898 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:18211752|REF_RGD_ID:2317290 11755364 IL4 interleukin 4 gene DOID:2841 asthma ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18357729 11755364 IL4 interleukin 4 gene DOID:2841 asthma ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:21103062|REF_RGD_ID:4889866 11755364 IL4 interleukin 4 gene DOID:2841 asthma ISO RGD:736306 D RGD:9068941 20200609 RGD mRNA, protein:increase expression:leukocyte, serum PMID:24450480|REF_RGD_ID:10402791 11755364 IL4 interleukin 4 gene DOID:2841 asthma no_association ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNP: :589C>T (human) PMID:20524005|REF_RGD_ID:5128560 11755364 IL4 interleukin 4 gene DOID:2841 asthma treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:24946644|REF_RGD_ID:10402799 11755364 IL4 interleukin 4 gene DOID:2957 pulmonary tuberculosis severity ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:20832364|REF_RGD_ID:5128550 11755364 IL4 interleukin 4 gene DOID:3042 allergic contact dermatitis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12484431|PMID:21804303 11755364 IL4 interleukin 4 gene DOID:3070 high grade glioma treatment ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:9973213|REF_RGD_ID:8142389 11755364 IL4 interleukin 4 gene DOID:3310 atopic dermatitis ISO RGD:10796 D RGD:9068941 20220825 MouseDO OMIM:603165 11755364 IL4 interleukin 4 gene DOID:3310 atopic dermatitis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11886533|PMID:12230500|PMID:18249437 11755364 IL4 interleukin 4 gene DOID:3310 atopic dermatitis ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-590C>T (human) PMID:9643293|REF_RGD_ID:7829786 11755364 IL4 interleukin 4 gene DOID:3310 atopic dermatitis ISO RGD:736306 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:8363440|REF_RGD_ID:7829795 11755364 IL4 interleukin 4 gene DOID:3525 middle cerebral artery infarction ISO RGD:2898 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:23028794|REF_RGD_ID:7204480 11755364 IL4 interleukin 4 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:736306 D RGD:9068941 20200609 RGD PMID:17942922|REF_RGD_ID:2317264 11755364 IL4 interleukin 4 gene DOID:3770 pulmonary fibrosis ISO RGD:10796 D RGD:9068941 20200609 RGD associated with Alveolitis, Extrinsic Allergic;mRNA:increased expression:lung PMID:20861649|REF_RGD_ID:5128548 11755364 IL4 interleukin 4 gene DOID:3770 pulmonary fibrosis ISO RGD:10796 D RGD:9068941 20200609 RGD associated with Silicosis;protein:increased expression:respiratory system fluid/secretion PMID:20490462|REF_RGD_ID:5128555 11755364 IL4 interleukin 4 gene DOID:3770 pulmonary fibrosis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12574379|PMID:15322207 11755364 IL4 interleukin 4 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:24269241|REF_RGD_ID:10402793 11755364 IL4 interleukin 4 gene DOID:417 autoimmune disease ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19077085|PMID:7871386|PMID:8898950 11755364 IL4 interleukin 4 gene DOID:418 systemic scleroderma ISO RGD:736306 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, splice variant:blood, mononuclear cell, plasma PMID:10473513|REF_RGD_ID:7829819 11755364 IL4 interleukin 4 gene DOID:418 systemic scleroderma ISO RGD:736306 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9034992|REF_RGD_ID:5684371 11755364 IL4 interleukin 4 gene DOID:4481 allergic rhinitis treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:24620662|REF_RGD_ID:11522769 11755364 IL4 interleukin 4 gene DOID:4481 allergic rhinitis treatment ISO RGD:736306 D RGD:9068941 20200609 RGD PMID:14653048|PMID:8908280|PMID:9893928|REF_RGD_ID:7829796|REF_RGD_ID:7829802|REF_RGD_ID:7829827 11755364 IL4 interleukin 4 gene DOID:4483 rhinitis ISO RGD:10796 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium PMID:21208219|REF_RGD_ID:5128558 11755364 IL4 interleukin 4 gene DOID:4483 rhinitis ISO RGD:2898 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18826099|REF_RGD_ID:2317285 11755364 IL4 interleukin 4 gene DOID:4483 rhinitis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19672097 11755364 IL4 interleukin 4 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:17898087|PMID:9350645|REF_RGD_ID:2307059|REF_RGD_ID:2317673 11755364 IL4 interleukin 4 gene DOID:552 pneumonia ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11755364 IL4 interleukin 4 gene DOID:552 pneumonia ISO RGD:736306 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11755364 IL4 interleukin 4 gene DOID:630 genetic disease ISO RGD:736306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755364 IL4 interleukin 4 gene DOID:6432 pulmonary hypertension ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:20889544|REF_RGD_ID:5128515 11755364 IL4 interleukin 4 gene DOID:7188 autoimmune thyroiditis ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:9892610|REF_RGD_ID:8142396 11755364 IL4 interleukin 4 gene DOID:8536 herpes zoster ISO RGD:736306 D RGD:9068941 20200609 RGD protein:decreased expression:: PMID:21954956|REF_RGD_ID:8663478 11755364 IL4 interleukin 4 gene DOID:8893 psoriasis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19169254 11755364 IL4 interleukin 4 gene DOID:8893 psoriasis ISO RGD:736306 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15039646|REF_RGD_ID:7829812 11755364 IL4 interleukin 4 gene DOID:8893 psoriasis treatment ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:19729876|REF_RGD_ID:7829826 11755364 IL4 interleukin 4 gene DOID:8924 autoimmune thrombocytopenic purpura disease_progression ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:repeat:intron PMID:25051072|REF_RGD_ID:11041894 11755364 IL4 interleukin 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:20623539|REF_RGD_ID:5128562 11755364 IL4 interleukin 4 gene DOID:9000197 Edema treatment ISO RGD:736306 D RGD:9068941 20200609 RGD associated with Inflammation PMID:23972727|REF_RGD_ID:10402790 11755364 IL4 interleukin 4 gene DOID:9000784 Fibrosis ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:10486156|REF_RGD_ID:7829775 11755364 IL4 interleukin 4 gene DOID:9000784 Fibrosis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24286936 11755364 IL4 interleukin 4 gene DOID:9000998 Brain Injuries ISO RGD:2898 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:24519543|REF_RGD_ID:10402802 11755364 IL4 interleukin 4 gene DOID:9001011 Bovine Tuberculosis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17387165 11755364 IL4 interleukin 4 gene DOID:9001488 Human Influenza ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:21092162|REF_RGD_ID:5128546 11755364 IL4 interleukin 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:10796 D RGD:9068941 20201023 RGD protein:decreased expression:serum (mouse) PMID:28465467|REF_RGD_ID:39939037 11755364 IL4 interleukin 4 gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:24986445|REF_RGD_ID:10402801 11755364 IL4 interleukin 4 gene DOID:9001981 Weight Loss ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24314293 11755364 IL4 interleukin 4 gene DOID:9002019 Granuloma treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:24372369|REF_RGD_ID:10402806 11755364 IL4 interleukin 4 gene DOID:9002331 Knee Osteoarthritis ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:18182309|REF_RGD_ID:2317291 11755364 IL4 interleukin 4 gene DOID:9002331 Knee Osteoarthritis susceptibility ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:repeat:intron: (rs8179190) (human) PMID:24406619|REF_RGD_ID:10402787 11755364 IL4 interleukin 4 gene DOID:9002457 Experimental Arthritis ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:16869003|REF_RGD_ID:2317300 11755364 IL4 interleukin 4 gene DOID:9002457 Experimental Arthritis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10444273 11755364 IL4 interleukin 4 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:23140046|REF_RGD_ID:7193038 11755364 IL4 interleukin 4 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:736306 D RGD:9068941 20200609 RGD PMID:23972727|REF_RGD_ID:10402790 11755364 IL4 interleukin 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:1383385|REF_RGD_ID:8142395 11755364 IL4 interleukin 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:18239607|REF_RGD_ID:7829778 11755364 IL4 interleukin 4 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12755381|PMID:20485159|PMID:22967010 11755364 IL4 interleukin 4 gene DOID:9002992 Nematode Infections ISO RGD:2898 D RGD:9068941 20200609 RGD mRNA:increased expression:spleen PMID:17570971|REF_RGD_ID:2317296 11755364 IL4 interleukin 4 gene DOID:9003157 Respiratory Sounds ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18410779 11755364 IL4 interleukin 4 gene DOID:9003507 Premature Birth ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26055944 11755364 IL4 interleukin 4 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:736306 D RGD:9068941 20200609 RGD PMID:21171297|REF_RGD_ID:5128559 11755364 IL4 interleukin 4 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:736306 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9237816|REF_RGD_ID:7829817 11755364 IL4 interleukin 4 gene DOID:9003657 Perennial Allergic Rhinitis treatment ISO RGD:736306 D RGD:9068941 20200609 RGD PMID:15329007|REF_RGD_ID:7829804 11755364 IL4 interleukin 4 gene DOID:9004017 Chronic Hepatitis C ISO RGD:736306 D RGD:9068941 20200609 RGD associated with factor VIII deficiency;protein:increased expression:serum: PMID:23591975|REF_RGD_ID:14696686 11755364 IL4 interleukin 4 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-590C>T,-33T>C (human) PMID:22594992|REF_RGD_ID:14696678 11755364 IL4 interleukin 4 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:736306 D RGD:9068941 20200813 RGD PMID:25708446|REF_RGD_ID:38456002 11755364 IL4 interleukin 4 gene DOID:9004203 Chromosome Breakage ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27634759 11755364 IL4 interleukin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11755364 IL4 interleukin 4 gene DOID:9004484 Sepsis ISO RGD:736306 D RGD:9068941 20200806 RGD protein:increased expression:plasma PMID:25403265|REF_RGD_ID:38455982 11755364 IL4 interleukin 4 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:24681349|REF_RGD_ID:10402798 11755364 IL4 interleukin 4 gene DOID:9005040 Hand Osteoarthritis no_association ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, 5' utr, intron:multiple PMID:20219689|REF_RGD_ID:10402786 11755364 IL4 interleukin 4 gene DOID:9005236 Drug Eruptions ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19351467 11755364 IL4 interleukin 4 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:25191525|REF_RGD_ID:10402795 11755364 IL4 interleukin 4 gene DOID:9005941 Rhinosinusitis treatment ISO RGD:736306 D RGD:9068941 20200609 RGD associated with Asthma PMID:12787306|REF_RGD_ID:7829803 11755364 IL4 interleukin 4 gene DOID:9006511 Xerostomia ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:16413168|REF_RGD_ID:7829771 11755364 IL4 interleukin 4 gene DOID:9006642 Experimental Autoimmune Uveoretinitis disease_progression ISO RGD:2898 D RGD:9068941 20200609 RGD mRNA:increased expression:uvea: PMID:7803357|REF_RGD_ID:8662946 11755364 IL4 interleukin 4 gene DOID:9006741 Acute Hepatitis ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:9367542|REF_RGD_ID:8142397 11755364 IL4 interleukin 4 gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:24365768|REF_RGD_ID:10402797 11755364 IL4 interleukin 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736306 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11755364 IL4 interleukin 4 gene DOID:9007096 Stroke ISO RGD:736306 D RGD:9068941 20230225 RGD mRNA:increased expression:lymphocyte PMID:31465536|REF_RGD_ID:156430320 11755364 IL4 interleukin 4 gene DOID:9007278 Anaphylaxis ISO RGD:10796 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, intestine, spleen PMID:24468678|REF_RGD_ID:10402796 11755364 IL4 interleukin 4 gene DOID:9007278 Anaphylaxis ISO RGD:736306 D RGD:9068941 20200609 RGD associated with cystic echinococcosis; protein:increased expression:blood PMID:28095662|REF_RGD_ID:14696684 11755364 IL4 interleukin 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21094227|PMID:21735453|PMID:22107450 11755364 IL4 interleukin 4 gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:24876883|REF_RGD_ID:10402805 11755364 IL4 interleukin 4 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:736306 D RGD:9068941 20200609 RGD mRNA:increased expression:nose: PMID:7551298|REF_RGD_ID:8662960 11755364 IL4 interleukin 4 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:736306 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9237816|REF_RGD_ID:7829817 11755364 IL4 interleukin 4 gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-590C>T (human) PMID:26281177|REF_RGD_ID:14696675 11755364 IL4 interleukin 4 gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:736306 D RGD:9068941 20200609 RGD PMID:21331994|REF_RGD_ID:14696697 11755364 IL4 interleukin 4 gene DOID:9008366 Meningococcal Infections susceptibility ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-524C>T(human) PMID:20016407|REF_RGD_ID:14696700 11755364 IL4 interleukin 4 gene DOID:9008680 Respiratory Tract Infections ISO RGD:736306 D RGD:9068941 20200609 RGD associated with Asthma PMID:20573437|REF_RGD_ID:5128554 11755364 IL4 interleukin 4 gene DOID:9008821 Otitis Media with Effusion ISO RGD:2898 D RGD:9068941 20200609 RGD protein:increased expression:middle ear PMID:18975780|REF_RGD_ID:2317282 11755364 IL4 interleukin 4 gene DOID:9008885 Staphylococcal Infections susceptibility ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-542C>T (human) PMID:18422436|REF_RGD_ID:7829791 11755364 IL4 interleukin 4 gene DOID:9065 leishmaniasis ISO RGD:736306 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:2145107|REF_RGD_ID:7829781 11755364 IL4 interleukin 4 gene DOID:9065 leishmaniasis treatment ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:2521244|REF_RGD_ID:7829820 11755364 IL4 interleukin 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18158872 11755364 IL4 interleukin 4 gene DOID:9111 cutaneous leishmaniasis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20102417 11755364 IL4 interleukin 4 gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:2898 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 11755364 IL4 interleukin 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:10796 D RGD:9068941 20220825 MouseDO OMIM:222100 11755364 IL4 interleukin 4 gene DOID:9790 toxocariasis treatment ISO RGD:736306 D RGD:9068941 20200609 RGD PMID:26732352|REF_RGD_ID:11534298 11755373 C6H6orf163 chromosome 6 C6orf163 homolog gene DOID:630 genetic disease ISO RGD:1604202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755394 ASB5 ankyrin repeat and SOCS box containing 5 gene DOID:630 genetic disease ISO RGD:1352084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755394 ASB5 ankyrin repeat and SOCS box containing 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11755411 FAM180A family with sequence similarity 180 member A gene DOID:289 endometriosis ISO RGD:1604688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11755411 FAM180A family with sequence similarity 180 member A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11755411 FAM180A family with sequence similarity 180 member A gene DOID:630 genetic disease ISO RGD:1604688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755411 FAM180A family with sequence similarity 180 member A gene DOID:684 hepatocellular carcinoma ISO RGD:1604688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11755418 NAT1 N-acetyltransferase 1 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1344668 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 11755418 NAT1 N-acetyltransferase 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:1344668 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:12355549|REF_RGD_ID:2303760 11755418 NAT1 N-acetyltransferase 1 gene DOID:11054 urinary bladder cancer ISO RGD:1344668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16003747 11755418 NAT1 N-acetyltransferase 1 gene DOID:14566 disease of cellular proliferation ISO RGD:1344668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11505221 11755418 NAT1 N-acetyltransferase 1 gene DOID:1793 pancreatic cancer ISO RGD:1344668 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:18006927|REF_RGD_ID:2317170 11755418 NAT1 N-acetyltransferase 1 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1344668 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:18499698|REF_RGD_ID:2317168 11755418 NAT1 N-acetyltransferase 1 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1344668 D RGD:9068941 20200609 RGD DNA:polymorphisms,haplotype: : PMID:18006927|REF_RGD_ID:2317170 11755418 NAT1 N-acetyltransferase 1 gene DOID:299 adenocarcinoma susceptibility ISO RGD:1344668 D RGD:9068941 20200609 RGD associated with lung neoplasm; DNA:polymorphis: : PMID:11266080|REF_RGD_ID:5131865 11755418 NAT1 N-acetyltransferase 1 gene DOID:3042 allergic contact dermatitis susceptibility ISO RGD:1344668 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:19663877|REF_RGD_ID:8552666 11755418 NAT1 N-acetyltransferase 1 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1344668 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:18258609|REF_RGD_ID:4140950 11755418 NAT1 N-acetyltransferase 1 gene DOID:4404 occupational dermatitis ISO RGD:1344668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19834256 11755418 NAT1 N-acetyltransferase 1 gene DOID:4404 occupational dermatitis susceptibility ISO RGD:1344668 D RGD:9068941 20200609 RGD DNA:polymorphisms:: PMID:19834256|REF_RGD_ID:8552685 11755418 NAT1 N-acetyltransferase 1 gene DOID:630 genetic disease ISO RGD:1344668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755418 NAT1 N-acetyltransferase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12618593 11755418 NAT1 N-acetyltransferase 1 gene DOID:9003613 Laryngeal Neoplasms susceptibility ISO RGD:1344668 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:12037388|REF_RGD_ID:5131864 11755418 NAT1 N-acetyltransferase 1 gene DOID:9004814 Chromosome Aberrations ISO RGD:1344668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16537716 11755418 NAT1 N-acetyltransferase 1 gene DOID:9005172 Lung Neoplasms susceptibility ISO RGD:1344668 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:9626964|REF_RGD_ID:5131866 11755418 NAT1 N-acetyltransferase 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1344668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11505221 11755441 SLC25A52 solute carrier family 25 member 52 gene DOID:1059 intellectual disability ISO RGD:1319971 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11755441 SLC25A52 solute carrier family 25 member 52 gene DOID:630 genetic disease ISO RGD:1319971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755446 ENAM enamelin gene DOID:0110052 amelogenesis imperfecta type 1B ISO RGD:1315614 D RGD:7240710 20180130 OMIM 11755446 ENAM enamelin gene DOID:0110052 amelogenesis imperfecta type 1B ISO RGD:1315614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant | ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local PMID:11487571|PMID:11978766|PMID:14684688|PMID:16246937|PMID:17125728|PMID:19329462|PMID:20439930|PMID:21597265|PMID:22414746|PMID:25741868|PMID:28334996|PMID:28492532|PMID:31478359 11755446 ENAM enamelin gene DOID:0110056 amelogenesis imperfecta type 1C ISO RGD:1315614 D RGD:7240710 20180130 OMIM 11755446 ENAM enamelin gene DOID:0110056 amelogenesis imperfecta type 1C ISO RGD:1315614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1C PMID:14684688|PMID:16246937|PMID:17125728|PMID:19329462|PMID:20439930|PMID:21597265|PMID:28492532 11755446 ENAM enamelin gene DOID:2187 amelogenesis imperfecta ISO RGD:1315614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta PMID:25741868|PMID:28492532 11755446 ENAM enamelin gene DOID:630 genetic disease ISO RGD:1315614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755446 ENAM enamelin gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1315614 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11755490 LOC103784395 neuroblastoma breakpoint family member 4 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:2302827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11755490 LOC103784395 neuroblastoma breakpoint family member 4 gene DOID:12849 autistic disorder ISO RGD:2302827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11755490 LOC103784395 neuroblastoma breakpoint family member 4 gene DOID:630 genetic disease ISO RGD:2302827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755507 ZNF444 zinc finger protein 444 gene DOID:630 genetic disease ISO RGD:1312520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755549 MEF2C myocyte enhancer factor 2C gene DOID:0060041 autism spectrum disorder ISO RGD:1349172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders PMID:20513142|PMID:25741868|PMID:26633542|PMID:28492532|PMID:29468350|PMID:29720203|PMID:30376817|PMID:30504930|PMID:30763456|PMID:33994118|PMID:34055696 11755549 MEF2C myocyte enhancer factor 2C gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1349172 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy 11755549 MEF2C myocyte enhancer factor 2C gene DOID:0070050 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ISO RGD:1349172 D RGD:7240710 20180130 OMIM 11755549 MEF2C myocyte enhancer factor 2C gene DOID:0070050 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ISO RGD:1349172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE PMID:16199547|PMID:17576681|PMID:18414213|PMID:19592390|PMID:19876902|PMID:20333642|PMID:20513142|PMID:20674574|PMID:22031302|PMID:22498567|PMID:23001426|PMID:23389741|PMID:24088041|PMID:25131622|PMID:25741868|PMID:25741869|PMID:26633542|PMID:26633545|PMID:27255693|PMID:27748065|PMID:28492532|PMID:28554332|PMID:28794905|PMID:29159939|PMID:29468350|PMID:29706646|PMID:29720203|PMID:29863696|PMID:30376817|PMID:30504930|PMID:30763456|PMID:31512412|PMID:32123317|PMID:33994118|PMID:34022131|PMID:34055696|PMID:7679508|PMID:9384584|PMID:9536098 11755549 MEF2C myocyte enhancer factor 2C gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349172 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11755549 MEF2C myocyte enhancer factor 2C gene DOID:1059 intellectual disability ISO RGD:1349172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability PMID:20513142|PMID:25741868|PMID:28492532|PMID:29720203|PMID:30376817|PMID:30763456 11755549 MEF2C myocyte enhancer factor 2C gene DOID:12849 autistic disorder ISO RGD:1349172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19131610 11755549 MEF2C myocyte enhancer factor 2C gene DOID:12930 dilated cardiomyopathy ISO RGD:1621607 D RGD:9068941 20200609 RGD PMID:16469744|REF_RGD_ID:1580546 11755549 MEF2C myocyte enhancer factor 2C gene DOID:1824 status epilepticus ISO RGD:1349172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18949272 11755549 MEF2C myocyte enhancer factor 2C gene DOID:1824 status epilepticus ISO RGD:1563119 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus PMID:18949272|REF_RGD_ID:5131610 11755549 MEF2C myocyte enhancer factor 2C gene DOID:1826 epilepsy ISO RGD:1349172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868 11755549 MEF2C myocyte enhancer factor 2C gene DOID:2303 stereotypic movement disorder ISO RGD:1349172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20412115 11755549 MEF2C myocyte enhancer factor 2C gene DOID:5844 myocardial infarction treatment ISO RGD:1563119 D RGD:9068941 20200609 RGD PMID:23948075|REF_RGD_ID:7327215 11755549 MEF2C myocyte enhancer factor 2C gene DOID:630 genetic disease ISO RGD:1349172 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:20513142|PMID:20674574|PMID:22498567|PMID:25741868|PMID:28492532|PMID:30376817|PMID:31512412|PMID:9384584 11755549 MEF2C myocyte enhancer factor 2C gene DOID:630 genetic disease ISO RGD:1349172 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:20513142|PMID:20674574|PMID:22498567|PMID:25741868|PMID:28492532|PMID:30376817|PMID:31512412|PMID:32123317|PMID:34022131|PMID:9384584 11755549 MEF2C myocyte enhancer factor 2C gene DOID:9001793 Generalized Epilepsy ISO RGD:1349172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:32581362 11755549 MEF2C myocyte enhancer factor 2C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:34022131 11755549 MEF2C myocyte enhancer factor 2C gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1621607 D RGD:9068941 20200609 RGD PMID:20041152|REF_RGD_ID:5131608 11755549 MEF2C myocyte enhancer factor 2C gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1563119 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:18413674|REF_RGD_ID:2312263 11755549 MEF2C myocyte enhancer factor 2C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349172 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11755549 MEF2C myocyte enhancer factor 2C gene DOID:9255 frontotemporal dementia ISO RGD:1349172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia 11755572 SPP1 secreted phosphoprotein 1 gene DOID:0050851 glomerulosclerosis ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:12675855|REF_RGD_ID:6903837 11755572 SPP1 secreted phosphoprotein 1 gene DOID:0080685 aortic dissection ISO RGD:736066 D RGD:9068941 20220929 RGD protein:increased expression:aorta (human) PMID:28167124|PMID:30787994|REF_RGD_ID:155260287|REF_RGD_ID:155260309 11755572 SPP1 secreted phosphoprotein 1 gene DOID:0111535 progressive osseous heteroplasia ISO RGD:736066 D RGD:9068941 20200609 RGD protein:increased expression:dermis: PMID:18422975|REF_RGD_ID:9068449 11755572 SPP1 secreted phosphoprotein 1 gene DOID:10286 prostate carcinoma ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:16331611|REF_RGD_ID:1581362 11755572 SPP1 secreted phosphoprotein 1 gene DOID:10320 asbestosis ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16221779|PMID:21514415 11755572 SPP1 secreted phosphoprotein 1 gene DOID:1074 kidney failure ISO RGD:736066 D RGD:9068941 20200609 RGD In type 2 diabetic patients PMID:21034455|REF_RGD_ID:6903271 11755572 SPP1 secreted phosphoprotein 1 gene DOID:11054 urinary bladder cancer ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:21483670|REF_RGD_ID:6903265 11755572 SPP1 secreted phosphoprotein 1 gene DOID:114 heart disease ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23558518 11755572 SPP1 secreted phosphoprotein 1 gene DOID:11832 visual epilepsy ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:12132583|REF_RGD_ID:1581327 11755572 SPP1 secreted phosphoprotein 1 gene DOID:1205 allergic disease ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11755572 SPP1 secreted phosphoprotein 1 gene DOID:12365 malaria ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:16552072|REF_RGD_ID:1581333 11755572 SPP1 secreted phosphoprotein 1 gene DOID:13001 carotid stenosis ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26564003 11755572 SPP1 secreted phosphoprotein 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9294829 11755572 SPP1 secreted phosphoprotein 1 gene DOID:13608 biliary atresia ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:15845635|REF_RGD_ID:1581370 11755572 SPP1 secreted phosphoprotein 1 gene DOID:14566 disease of cellular proliferation ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:15776015|REF_RGD_ID:1581381 11755572 SPP1 secreted phosphoprotein 1 gene DOID:1591 renovascular hypertension ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:12620700|REF_RGD_ID:1581326 11755572 SPP1 secreted phosphoprotein 1 gene DOID:1793 pancreatic cancer ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:15970685|REF_RGD_ID:1581363 11755572 SPP1 secreted phosphoprotein 1 gene DOID:182 calcinosis ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:18390899|REF_RGD_ID:6903869 11755572 SPP1 secreted phosphoprotein 1 gene DOID:182 calcinosis ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21193197|PMID:21335463 11755572 SPP1 secreted phosphoprotein 1 gene DOID:182 calcinosis ISO RGD:736066 D RGD:9068941 20200609 RGD protein:increased expression:dermis: PMID:18422975|REF_RGD_ID:9068449 11755572 SPP1 secreted phosphoprotein 1 gene DOID:1909 melanoma ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:15757900|REF_RGD_ID:1581337 11755572 SPP1 secreted phosphoprotein 1 gene DOID:2237 hepatitis ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:15712659|REF_RGD_ID:1581383 11755572 SPP1 secreted phosphoprotein 1 gene DOID:2377 multiple sclerosis ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:11721059|REF_RGD_ID:1581329 11755572 SPP1 secreted phosphoprotein 1 gene DOID:2377 multiple sclerosis ISO RGD:736066 D RGD:9068941 20200609 RGD DNA, protein:SNPs, haplotypes, increased expression:multiple, serum PMID:15885319|REF_RGD_ID:1581472 11755572 SPP1 secreted phosphoprotein 1 gene DOID:26 pancreas disease ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20495387 11755572 SPP1 secreted phosphoprotein 1 gene DOID:2921 glomerulonephritis disease_progression ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:20720406|REF_RGD_ID:6903272 11755572 SPP1 secreted phosphoprotein 1 gene DOID:299 adenocarcinoma ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20495387|PMID:21552421 11755572 SPP1 secreted phosphoprotein 1 gene DOID:3021 acute kidney failure ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:22863853|REF_RGD_ID:6903264 11755572 SPP1 secreted phosphoprotein 1 gene DOID:3021 acute kidney failure ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11274264|PMID:20623750 11755572 SPP1 secreted phosphoprotein 1 gene DOID:3042 allergic contact dermatitis ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14555839 11755572 SPP1 secreted phosphoprotein 1 gene DOID:3070 high grade glioma ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:16651633|REF_RGD_ID:1581321 11755572 SPP1 secreted phosphoprotein 1 gene DOID:3070 high grade glioma ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16651633 11755572 SPP1 secreted phosphoprotein 1 gene DOID:3393 coronary artery disease ISO RGD:736066 D RGD:9068941 20200609 RGD In type 2 diabetic patients PMID:21034455|REF_RGD_ID:6903271 11755572 SPP1 secreted phosphoprotein 1 gene DOID:3627 aortic aneurysm ISO RGD:736066 D RGD:9068941 20220929 RGD protein:increased expression:aorta (human) PMID:25465469|REF_RGD_ID:155260284 11755572 SPP1 secreted phosphoprotein 1 gene DOID:3770 pulmonary fibrosis ISO RGD:11340 D RGD:9068941 20200619 RGD associated with Middle East respiratory syndrome;mRNA:increased expression:lung: PMID:31838832|REF_RGD_ID:30309204 11755572 SPP1 secreted phosphoprotein 1 gene DOID:3770 pulmonary fibrosis ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25216247 11755572 SPP1 secreted phosphoprotein 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:16533775|REF_RGD_ID:1581361 11755572 SPP1 secreted phosphoprotein 1 gene DOID:399 tuberculosis ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:15863395|REF_RGD_ID:1581371 11755572 SPP1 secreted phosphoprotein 1 gene DOID:4079 heart valve disease ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11755572 SPP1 secreted phosphoprotein 1 gene DOID:4247 coronary restenosis ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:12114325|REF_RGD_ID:1581358 11755572 SPP1 secreted phosphoprotein 1 gene DOID:4247 coronary restenosis ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:16373617|REF_RGD_ID:1581366 11755572 SPP1 secreted phosphoprotein 1 gene DOID:4306 radiculopathy ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:14513263|REF_RGD_ID:1581324 11755572 SPP1 secreted phosphoprotein 1 gene DOID:4676 uremia ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 11755572 SPP1 secreted phosphoprotein 1 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:20504883|REF_RGD_ID:6903276 11755572 SPP1 secreted phosphoprotein 1 gene DOID:5082 liver cirrhosis ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16221502 11755572 SPP1 secreted phosphoprotein 1 gene DOID:5434 scrapie ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:16412998|REF_RGD_ID:1581331 11755572 SPP1 secreted phosphoprotein 1 gene DOID:552 pneumonia ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11755572 SPP1 secreted phosphoprotein 1 gene DOID:557 kidney disease ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27026710 11755572 SPP1 secreted phosphoprotein 1 gene DOID:576 proteinuria ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11972865 11755572 SPP1 secreted phosphoprotein 1 gene DOID:5844 myocardial infarction ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:14500723|REF_RGD_ID:1581325 11755572 SPP1 secreted phosphoprotein 1 gene DOID:5844 myocardial infarction ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:12939547|REF_RGD_ID:1581386 11755572 SPP1 secreted phosphoprotein 1 gene DOID:630 genetic disease ISO RGD:736066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755572 SPP1 secreted phosphoprotein 1 gene DOID:640 encephalomyelitis ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:11721059|REF_RGD_ID:1581329 11755572 SPP1 secreted phosphoprotein 1 gene DOID:640 encephalomyelitis ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:11721059|REF_RGD_ID:1581329 11755572 SPP1 secreted phosphoprotein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:16047475|REF_RGD_ID:1581375 11755572 SPP1 secreted phosphoprotein 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736066 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 11755572 SPP1 secreted phosphoprotein 1 gene DOID:7148 rheumatoid arthritis ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:15761492|REF_RGD_ID:1581382 11755572 SPP1 secreted phosphoprotein 1 gene DOID:820 myocarditis ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:16679731|REF_RGD_ID:1581118 11755572 SPP1 secreted phosphoprotein 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:17582161|PMID:22863349|PMID:25741868|PMID:28492532 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:15592854|REF_RGD_ID:6483848 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:15735673|REF_RGD_ID:1581341 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9000315 Pleural Neoplasms ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16221779 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9000352 Vascular System Injuries ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11868353 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9000483 Angina Pectoris ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:16421174|REF_RGD_ID:1581390 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9000784 Fibrosis ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:15123578|REF_RGD_ID:1581343 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:16474180|REF_RGD_ID:1581330 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22407340 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18703563 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9001542 Albuminuria ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:18443355|REF_RGD_ID:6903862 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:16221502|REF_RGD_ID:1581332 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:16221502|REF_RGD_ID:1581332 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9001600 Wounds and Injuries ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9525990 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9001665 Aneurysm ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:11567232|REF_RGD_ID:1581391 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:12032186|REF_RGD_ID:1581328 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21852811 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:15867270|REF_RGD_ID:1581338 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9002315 Kidney Calculi ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:16105024|REF_RGD_ID:1581334 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9002315 Kidney Calculi ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:21378157|REF_RGD_ID:6903839 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9002315 Kidney Calculi ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10890885|PMID:8325891 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9002315 Kidney Calculi ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:15954903|REF_RGD_ID:1581372 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9002438 Foreign-Body Reaction ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:15949549|REF_RGD_ID:1581336 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20440599 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9002704 Leukoencephalopathies ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11868353 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:16428483|REF_RGD_ID:1581364 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9003204 Neovascularization, Pathologic ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:11920639|REF_RGD_ID:1581359 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9003311 Urinary Calculi ISO RGD:736066 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R9402H (human) PMID:16145474|REF_RGD_ID:1581368 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9003311 Urinary Calculi no_association ISO RGD:736066 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.N9171S (human) PMID:16145474|REF_RGD_ID:1581368 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9003566 Mesothelioma ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16221779|PMID:18550471 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9003613 Laryngeal Neoplasms ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:16299231|REF_RGD_ID:1581365 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9003936 Cardiomegaly ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:15534078|REF_RGD_ID:1581339 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9004009 Reperfusion Injury ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:20548025|REF_RGD_ID:6903275 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:736066 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-443C>T, -1748G>A (human) PMID:15868370|REF_RGD_ID:1581374 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:16633066|REF_RGD_ID:1581360 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:15998773|REF_RGD_ID:1581369 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421|PMID:22481206 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15318939 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9005372 Inflammation ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:16105024|REF_RGD_ID:1581334 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:16528250|REF_RGD_ID:1581322 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9006062 Nervous System Trauma ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:15625076|REF_RGD_ID:1581125 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9006081 Osteolysis ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22407340 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:15531104|REF_RGD_ID:1581323 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15805072 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16980342 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9007502 Brain Neoplasms ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16651633 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:15165989|REF_RGD_ID:1581342 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9008105 Cystic, Mucinous, and Serous Neoplasms ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:16633066|REF_RGD_ID:1581360 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18949741|PMID:22531848 11755572 SPP1 secreted phosphoprotein 1 gene DOID:9538 multiple myeloma ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:16208410|REF_RGD_ID:1581367 11755586 CALHM4 calcium homeostasis modulator family member 4 gene DOID:0060163 body dysmorphic disorder ISO RGD:1314099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 11755586 CALHM4 calcium homeostasis modulator family member 4 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1314099 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 11755586 CALHM4 calcium homeostasis modulator family member 4 gene DOID:1059 intellectual disability ISO RGD:1314099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 11755586 CALHM4 calcium homeostasis modulator family member 4 gene DOID:10907 microcephaly ISO RGD:1314099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 11755586 CALHM4 calcium homeostasis modulator family member 4 gene DOID:1826 epilepsy ISO RGD:1314099 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11755586 CALHM4 calcium homeostasis modulator family member 4 gene DOID:630 genetic disease ISO RGD:1314099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755586 CALHM4 calcium homeostasis modulator family member 4 gene DOID:9000495 Tremor ISO RGD:1314099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 11755608 SRCAP Snf2 related CREBBP activator protein gene DOID:0060041 autism spectrum disorder ISO RGD:1606024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 11755608 SRCAP Snf2 related CREBBP activator protein gene DOID:0070303 multiple epiphyseal dysplasia 1 ISO RGD:1606024 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1 PMID:25741868 11755608 SRCAP Snf2 related CREBBP activator protein gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1606024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11755608 SRCAP Snf2 related CREBBP activator protein gene DOID:0080726 Ehlers-Danlos syndrome classic type 2 ISO RGD:1606024 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 PMID:25741868 11755608 SRCAP Snf2 related CREBBP activator protein gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1606024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11755608 SRCAP Snf2 related CREBBP activator protein gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1606024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 11755608 SRCAP Snf2 related CREBBP activator protein gene DOID:0111358 Floating-Harbor syndrome ISO RGD:1606024 D RGD:7240710 20180130 OMIM 11755608 SRCAP Snf2 related CREBBP activator protein gene DOID:0111358 Floating-Harbor syndrome ISO RGD:1606024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Floating-Harbor syndrome | ClinVar Annotator: match by term: Pelletier-Leisti syndrome PMID:11522779|PMID:11746027|PMID:17576681|PMID:18414213|PMID:20358590|PMID:22265015|PMID:22965468|PMID:23165645|PMID:23193612|PMID:23621943|PMID:23763483|PMID:24970356|PMID:25326637|PMID:25433523|PMID:25590979|PMID:25741868|PMID:26788936|PMID:28492532|PMID:31200758|PMID:33909990|PMID:9536098 11755608 SRCAP Snf2 related CREBBP activator protein gene DOID:1059 intellectual disability ISO RGD:1606024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate PMID:25741868|PMID:32581362 11755608 SRCAP Snf2 related CREBBP activator protein gene DOID:10907 microcephaly ISO RGD:1606024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11755608 SRCAP Snf2 related CREBBP activator protein gene DOID:630 genetic disease ISO RGD:1606024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11522779|PMID:18414213|PMID:20358590|PMID:22265015|PMID:22965468|PMID:23165645|PMID:23193612|PMID:23621943|PMID:24970356|PMID:25326637|PMID:25433523|PMID:25590979|PMID:25741868|PMID:26788936|PMID:28166811|PMID:28492532|PMID:31200758|PMID:33408077|PMID:33909990 11755608 SRCAP Snf2 related CREBBP activator protein gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:1606024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 11755608 SRCAP Snf2 related CREBBP activator protein gene DOID:9004230 DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES ISO RGD:1606024 D RGD:7240710 20220209 OMIM 11755608 SRCAP Snf2 related CREBBP activator protein gene DOID:9004230 DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES ISO RGD:1606024 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities PMID:25741868|PMID:28492532|PMID:33909990 11755608 SRCAP Snf2 related CREBBP activator protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532|PMID:33909990 11755608 SRCAP Snf2 related CREBBP activator protein gene DOID:9008582 Developmental Disease ISO RGD:1606024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11755645 RFX6 regulatory factor X6 gene DOID:0060163 body dysmorphic disorder ISO RGD:1316716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 11755645 RFX6 regulatory factor X6 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1316716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 11755645 RFX6 regulatory factor X6 gene DOID:1059 intellectual disability ISO RGD:1316716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 11755645 RFX6 regulatory factor X6 gene DOID:10907 microcephaly ISO RGD:1316716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 11755645 RFX6 regulatory factor X6 gene DOID:1826 epilepsy ISO RGD:1316716 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11755645 RFX6 regulatory factor X6 gene DOID:1909 melanoma ISO RGD:1316716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11755645 RFX6 regulatory factor X6 gene DOID:630 genetic disease ISO RGD:1316716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11755645 RFX6 regulatory factor X6 gene DOID:9000495 Tremor ISO RGD:1316716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 11755645 RFX6 regulatory factor X6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24390282 11755645 RFX6 regulatory factor X6 gene DOID:9006077 Martinez-Frias Syndrome ISO RGD:1316716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA PMID:15592663|PMID:18414213|PMID:18512226|PMID:19887127|PMID:20148032|PMID:25741868|PMID:26264437|PMID:26559129|PMID:27523286|PMID:28492532|PMID:29026101 11755645 RFX6 regulatory factor X6 gene DOID:9007412 Mitchell-Riley Syndrome ISO RGD:1316716 D RGD:7240710 20180130 OMIM 11755645 RFX6 regulatory factor X6 gene DOID:9007412 Mitchell-Riley Syndrome ISO RGD:1316716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitchell-Riley syndrome PMID:15592663|PMID:18414213|PMID:18512226|PMID:19887127|PMID:20148032|PMID:25741868|PMID:26264437|PMID:26559129|PMID:27523286|PMID:28492532|PMID:29026101 11755645 RFX6 regulatory factor X6 gene DOID:9351 diabetes mellitus ISO RGD:1316716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:15592663|PMID:18414213|PMID:20148032|PMID:25741868|PMID:28492532|PMID:29026101 11755645 RFX6 regulatory factor X6 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11755668 CFAP91 cilia and flagella associated protein 91 gene DOID:0111919 spermatogenic failure 38 ISO RGD:1346781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility with teratozoospermia due to single gene mutation PMID:32161152 11755668 CFAP91 cilia and flagella associated protein 91 gene DOID:0112273 spermatogenic failure 51 ISO RGD:1346781 D RGD:7240710 20210303 OMIM 11755668 CFAP91 cilia and flagella associated protein 91 gene DOID:0112273 spermatogenic failure 51 ISO RGD:1346781 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 51 PMID:25741868|PMID:32161152 11755668 CFAP91 cilia and flagella associated protein 91 gene DOID:630 genetic disease ISO RGD:1346781 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755700 USP3 ubiquitin specific peptidase 3 gene DOID:0060224 atrial fibrillation ISO RGD:1318862 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 11755700 USP3 ubiquitin specific peptidase 3 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1318862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11755700 USP3 ubiquitin specific peptidase 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1318862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 11755700 USP3 ubiquitin specific peptidase 3 gene DOID:1227 neutropenia ISO RGD:1318862 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 11755700 USP3 ubiquitin specific peptidase 3 gene DOID:2717 Bloom syndrome ISO RGD:1318862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11755700 USP3 ubiquitin specific peptidase 3 gene DOID:630 genetic disease ISO RGD:1318862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755700 USP3 ubiquitin specific peptidase 3 gene DOID:9256 colorectal cancer ISO RGD:1318862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11755720 DGKE diacylglycerol kinase epsilon gene DOID:0050777 Joubert syndrome ISO RGD:1347499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11755720 DGKE diacylglycerol kinase epsilon gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1347499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7 PMID:23274426|PMID:23542698|PMID:24511134|PMID:24747643|PMID:25135762|PMID:25741868|PMID:25854283|PMID:28492532|PMID:28496993|PMID:29590070 11755720 DGKE diacylglycerol kinase epsilon gene DOID:0080388 nephrotic syndrome type 7 ISO RGD:1347499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunoglobulin-mediated membranoproliferative glomerulonephritis | ClinVar Annotator: match by term: Nephrotic syndrome, type 7 PMID:23274426|PMID:23542698|PMID:24747643|PMID:25135762|PMID:25349199|PMID:25741868|PMID:25854283|PMID:28056875|PMID:28492532|PMID:28496993|PMID:29127259|PMID:29590070 11755720 DGKE diacylglycerol kinase epsilon gene DOID:0080388 nephrotic syndrome type 7 susceptibility ISO RGD:1347499 D RGD:7240710 20230517 OMIM 11755720 DGKE diacylglycerol kinase epsilon gene DOID:1184 nephrotic syndrome ISO RGD:1347499 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:23274426|PMID:25349199|PMID:25741868|PMID:29127259 11755720 DGKE diacylglycerol kinase epsilon gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1347499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemolytic-uremic syndrome PMID:25854283 11755720 DGKE diacylglycerol kinase epsilon gene DOID:557 kidney disease ISO RGD:1347499 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 11755720 DGKE diacylglycerol kinase epsilon gene DOID:630 genetic disease ISO RGD:1347499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11755739 OTOL1 otolin 1 gene DOID:630 genetic disease ISO RGD:4140314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755745 RRAGA Ras related GTP binding A gene DOID:630 genetic disease ISO RGD:1349440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755750 AGFG1 ArfGAP with FG repeats 1 gene DOID:0070311 oligoasthenoteratozoospermia ISO RGD:1321482 D RGD:9068941 20220825 MouseDO 11755750 AGFG1 ArfGAP with FG repeats 1 gene DOID:630 genetic disease ISO RGD:1321481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755750 AGFG1 ArfGAP with FG repeats 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1321481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11755771 RAI1 retinoic acid induced 1 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1318304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 11755771 RAI1 retinoic acid induced 1 gene DOID:0050777 Joubert syndrome ISO RGD:1318304 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11755771 RAI1 retinoic acid induced 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1318304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20981775 11755771 RAI1 retinoic acid induced 1 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1318304 D RGD:7240710 20180130 OMIM 11755771 RAI1 retinoic acid induced 1 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1318304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Smith-Magenis syndrome PMID:12652298|PMID:15788730|PMID:21857958|PMID:22578325|PMID:24033266|PMID:25087610|PMID:25741868|PMID:26467025|PMID:27082237|PMID:27884173|PMID:28135719|PMID:28166811|PMID:28492532|PMID:31690835 11755771 RAI1 retinoic acid induced 1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1318304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 11755771 RAI1 retinoic acid induced 1 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1318304 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 11755771 RAI1 retinoic acid induced 1 gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1318304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 9 PMID:25741868|PMID:27082237|PMID:28492532 11755771 RAI1 retinoic acid induced 1 gene DOID:1059 intellectual disability ISO RGD:1318304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25167861|PMID:25741868 11755771 RAI1 retinoic acid induced 1 gene DOID:12849 autistic disorder ISO RGD:1318304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11755771 RAI1 retinoic acid induced 1 gene DOID:1909 melanoma ISO RGD:1318304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11755771 RAI1 retinoic acid induced 1 gene DOID:2030 anxiety disorder ISO RGD:1318304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18285828 11755771 RAI1 retinoic acid induced 1 gene DOID:630 genetic disease ISO RGD:1318304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:21857958|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28057753|PMID:28166811|PMID:28492532|PMID:29458409|PMID:8841119 11755771 RAI1 retinoic acid induced 1 gene DOID:9001366 Psychomotor Agitation ISO RGD:1318304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18285828 11755771 RAI1 retinoic acid induced 1 gene DOID:9002111 Dyssomnias ISO RGD:1318304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19752160 11755771 RAI1 retinoic acid induced 1 gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:1318304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19116176 11755771 RAI1 retinoic acid induced 1 gene DOID:9006257 Growth Disorders ISO RGD:1318304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18285828 11755771 RAI1 retinoic acid induced 1 gene DOID:9007693 CAPOS Syndrome ISO RGD:1318304 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CAPOS syndrome PMID:25741868 11755771 RAI1 retinoic acid induced 1 gene DOID:9008582 Developmental Disease ISO RGD:1318304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11755771 RAI1 retinoic acid induced 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1318304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19116176 11755771 RAI1 retinoic acid induced 1 gene DOID:9970 obesity ISO RGD:1318304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15459175|PMID:19116176 11755784 FGF21 fibroblast growth factor 21 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1344631 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26797127|PMID:29289645 11755784 FGF21 fibroblast growth factor 21 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:732404 D RGD:9068941 20200609 RGD PMID:32195457|REF_RGD_ID:25330354 11755784 FGF21 fibroblast growth factor 21 gene DOID:10763 hypertension ISO RGD:1344631 D RGD:9068941 20210115 CTD CTD Direct Evidence: therapeutic PMID:29706566 11755784 FGF21 fibroblast growth factor 21 gene DOID:178 vascular disease ISO RGD:1344631 D RGD:9068941 20210115 CTD CTD Direct Evidence: therapeutic PMID:29706566 11755784 FGF21 fibroblast growth factor 21 gene DOID:1936 atherosclerosis ISO RGD:1344631 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum: PMID:26047614|REF_RGD_ID:10401919 11755784 FGF21 fibroblast growth factor 21 gene DOID:3525 middle cerebral artery infarction ISO RGD:1344631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25257527 11755784 FGF21 fibroblast growth factor 21 gene DOID:630 genetic disease ISO RGD:1344631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755784 FGF21 fibroblast growth factor 21 gene DOID:784 chronic kidney disease ISO RGD:1344631 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:22494291|REF_RGD_ID:10401925 11755784 FGF21 fibroblast growth factor 21 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1344631 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:25625802|REF_RGD_ID:10401920 11755784 FGF21 fibroblast growth factor 21 gene DOID:9003936 Cardiomegaly ISO RGD:732404 D RGD:9068941 20200609 RGD PMID:23771152|REF_RGD_ID:10401893 11755784 FGF21 fibroblast growth factor 21 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1344631 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23499715 11755784 FGF21 fibroblast growth factor 21 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620175 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:23262585|REF_RGD_ID:10401916 11755784 FGF21 fibroblast growth factor 21 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732404 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:23262585|REF_RGD_ID:10401916 11755784 FGF21 fibroblast growth factor 21 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:732404 D RGD:9068941 20200609 RGD PMID:25359298|REF_RGD_ID:10401921 11755784 FGF21 fibroblast growth factor 21 gene DOID:9006263 Experimental Pancreatitis ISO RGD:732404 D RGD:9068941 20200609 RGD PMID:19664632|REF_RGD_ID:10401870 11755784 FGF21 fibroblast growth factor 21 gene DOID:9006263 Experimental Pancreatitis treatment ISO RGD:1344631 D RGD:9068941 20200609 RGD PMID:19664632|REF_RGD_ID:10401870 11755784 FGF21 fibroblast growth factor 21 gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:732404 D RGD:9068941 20200609 RGD PMID:25306889|REF_RGD_ID:10401890 11755784 FGF21 fibroblast growth factor 21 gene DOID:9006778 Carotid Atherosclerosis ISO RGD:1344631 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:23887638|REF_RGD_ID:10401924 11755784 FGF21 fibroblast growth factor 21 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:620175 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:29883717|REF_RGD_ID:15045603 11755784 FGF21 fibroblast growth factor 21 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344631 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26797127 11755784 FGF21 fibroblast growth factor 21 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:732404 D RGD:9068941 20200609 RGD PMID:21293445|REF_RGD_ID:10401914 11755784 FGF21 fibroblast growth factor 21 gene DOID:9452 fatty liver disease ISO RGD:1344631 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24184811 11755784 FGF21 fibroblast growth factor 21 gene DOID:9452 fatty liver disease severity ISO RGD:1344631 D RGD:9068941 20200609 RGD PMID:32195457|REF_RGD_ID:25330354 11755784 FGF21 fibroblast growth factor 21 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1344631 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23499715 11755784 FGF21 fibroblast growth factor 21 gene DOID:9970 obesity ISO RGD:1344631 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24184811|PMID:26797127 11755790 C2CD3 C2 domain containing 3 centriole elongation regulator gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1607065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868|PMID:26092869 11755790 C2CD3 C2 domain containing 3 centriole elongation regulator gene DOID:0050777 Joubert syndrome ISO RGD:1607065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:24997988|PMID:25741868|PMID:26092869 11755790 C2CD3 C2 domain containing 3 centriole elongation regulator gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1607065 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11755790 C2CD3 C2 domain containing 3 centriole elongation regulator gene DOID:0110980 Joubert syndrome 1 ISO RGD:1607065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis PMID:24997988|PMID:25741868|PMID:26092869 11755790 C2CD3 C2 domain containing 3 centriole elongation regulator gene DOID:0110980 Joubert syndrome 1 ISO RGD:1607065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:24997988|PMID:26092869 11755790 C2CD3 C2 domain containing 3 centriole elongation regulator gene DOID:1059 intellectual disability ISO RGD:1607065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11755790 C2CD3 C2 domain containing 3 centriole elongation regulator gene DOID:4501 orofaciodigital syndrome ISO RGD:1607065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24997988 11755790 C2CD3 C2 domain containing 3 centriole elongation regulator gene DOID:630 genetic disease ISO RGD:1607065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11755790 C2CD3 C2 domain containing 3 centriole elongation regulator gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1607065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:25741868 11755790 C2CD3 C2 domain containing 3 centriole elongation regulator gene DOID:9002841 Orofaciodigital Syndrome XIV ISO RGD:1607065 D RGD:7240710 20180130 OMIM 11755790 C2CD3 C2 domain containing 3 centriole elongation regulator gene DOID:9002841 Orofaciodigital Syndrome XIV ISO RGD:1607065 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome xiv PMID:16199547|PMID:17576681|PMID:24997988|PMID:25741868|PMID:26092869|PMID:26477546|PMID:28492532|PMID:30097616|PMID:9536098 11755790 C2CD3 C2 domain containing 3 centriole elongation regulator gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11755835 RREB1 ras responsive element binding protein 1 gene DOID:0080690 RASopathy ISO RGD:1553608 D RGD:9068941 20221006 MouseDO 11755835 RREB1 ras responsive element binding protein 1 gene DOID:10907 microcephaly ISO RGD:1322078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11755835 RREB1 ras responsive element binding protein 1 gene DOID:13938 amenorrhea ISO RGD:1322078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11755835 RREB1 ras responsive element binding protein 1 gene DOID:630 genetic disease ISO RGD:1322078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755861 LOC100977638 chitinase acidic gene DOID:0050127 sinusitis severity ISO RGD:1604020 D RGD:9068941 20200609 RGD mRNA:decreased expression:sinus, epithelial cell (human) PMID:19379605|REF_RGD_ID:5037227 11755861 LOC100977638 chitinase acidic gene DOID:10325 silicosis ISO RGD:1303058 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:18685790|REF_RGD_ID:4893904 11755861 LOC100977638 chitinase acidic gene DOID:12053 cryptococcosis ISO RGD:1303058 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:18482441|REF_RGD_ID:4990459 11755861 LOC100977638 chitinase acidic gene DOID:12849 autistic disorder ISO RGD:1604020 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11755861 LOC100977638 chitinase acidic gene DOID:2841 asthma ISO RGD:1604020 D RGD:9068941 20200609 RGD DNA:snps:5' utr, cds:multiple (human) PMID:16179638|REF_RGD_ID:4996473 11755861 LOC100977638 chitinase acidic gene DOID:2841 asthma ISO RGD:1604020 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, epithelial cell (human) PMID:15192232|REF_RGD_ID:4985150 11755861 LOC100977638 chitinase acidic gene DOID:2841 asthma ISO RGD:1615785 D RGD:9068941 20200609 RGD PMID:19548841|REF_RGD_ID:5024921 11755861 LOC100977638 chitinase acidic gene DOID:2841 asthma ISO RGD:1615785 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:14734765|REF_RGD_ID:4990463 11755861 LOC100977638 chitinase acidic gene DOID:2841 asthma no_association ISO RGD:1604020 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:20226308|REF_RGD_ID:5024922 11755861 LOC100977638 chitinase acidic gene DOID:630 genetic disease ISO RGD:1604020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755861 LOC100977638 chitinase acidic gene DOID:9001472 Nasal Polyps ISO RGD:1604020 D RGD:9068941 20200609 RGD associated with Sinusitis; mRNA:increased expression:mucosa of ethmoidal sinus (human) PMID:16871939|REF_RGD_ID:5024927 11755861 LOC100977638 chitinase acidic gene DOID:9003281 Spontaneous Abortions ISO RGD:1604020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11755861 LOC100977638 chitinase acidic gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:1604020 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:turbinate, mucosa (human) PMID:20422678|REF_RGD_ID:5037226 11755861 LOC100977638 chitinase acidic gene DOID:9005372 Inflammation ISO RGD:1615785 D RGD:9068941 20200609 RGD PMID:17450126|REF_RGD_ID:5024919 11755893 GLB1 galactosidase beta 1 gene DOID:0050952 spastic ataxia ISO RGD:1347574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:10841810|PMID:15714521|PMID:18524657|PMID:21497194|PMID:25741868|PMID:28492532|PMID:8922281 11755893 GLB1 galactosidase beta 1 gene DOID:0080006 bone development disease ISO RGD:1347574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7586649 11755893 GLB1 galactosidase beta 1 gene DOID:0080489 GM1 gangliosidosis type 3 ISO RGD:1347574 D RGD:7240710 20190227 OMIM 11755893 GLB1 galactosidase beta 1 gene DOID:0080489 GM1 gangliosidosis type 3 ISO RGD:1347574 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GM1 gangliosidosis type 3 | ClinVar Annotator: match by term: Type 3 (adult) GM1 gangliosidosis PMID:10338095|PMID:10737981|PMID:11504597|PMID:11511921|PMID:11727201|PMID:12393180|PMID:12644936|PMID:12673792|PMID:1353343|PMID:15714521|PMID:15906092|PMID:15986423|PMID:16617000|PMID:16626397|PMID:16941474|PMID:17309651|PMID:17576681|PMID:17664528|PMID:18524657|PMID:1907800|PMID:1909089|PMID:19472408|PMID:19644515|PMID:20175788|PMID:20301601|PMID:21497194|PMID:21520340|PMID:21637542|PMID:22128166|PMID:23337983|PMID:23430499|PMID:24156116|PMID:25326637|PMID:25443580|PMID:25557439|PMID:25600812|PMID:25741868|PMID:25936995|PMID:26108645|PMID:26646981|PMID:28492532|PMID:28554332|PMID:28716012|PMID:29160035|PMID:29439846|PMID:30267299|PMID:31761138|PMID:31776384|PMID:6791574|PMID:8068159|PMID:8112731|PMID:8198123|PMID:8199591|PMID:8213816|PMID:8652017|PMID:8922281|PMID:9203065|PMID:9536098|PMID:9781688 11755893 GLB1 galactosidase beta 1 gene DOID:0080501 GM1 gangliosidosis type 2 ISO RGD:1347574 D RGD:7240710 20190306 OMIM 11755893 GLB1 galactosidase beta 1 gene DOID:0080501 GM1 gangliosidosis type 2 ISO RGD:1347574 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GM1 gangliosidosis type 2 PMID:10338095|PMID:10737981|PMID:10744681|PMID:10839995|PMID:10841810|PMID:11504597|PMID:11511921|PMID:11727201|PMID:12393180|PMID:12644936|PMID:12673792|PMID:1353343|PMID:1487238|PMID:15365997|PMID:15714521|PMID:15906092|PMID:15943552|PMID:15986423|PMID:1606711|PMID:16199547|PMID:16314480|PMID:16538002|PMID:16617000|PMID:16626397|PMID:16674934|PMID:16941474|PMID:17221873|PMID:17309651|PMID:17661814|PMID:17664528|PMID:18524657|PMID:18571950|PMID:1907800|PMID:1909089|PMID:1928092|PMID:19472408|PMID:19644515|PMID:20175788|PMID:20301601|PMID:20920281|PMID:21214877|PMID:2149194|PMID:21497194|PMID:21520340|PMID:21637542|PMID:22128166|PMID:22675082|PMID:23046582|PMID:23151865|PMID:23337983|PMID:23430499|PMID:23430803|PMID:23757202|PMID:23831247|PMID:24033266|PMID:24156116|PMID:24767253|PMID:24777551|PMID:25326635|PMID:25326637|PMID:25443580|PMID:25525159|PMID:25557439|PMID:25600812|PMID:25741868|PMID:25936995|PMID:26108645|PMID:26169295|PMID:26646981|PMID:26990548|PMID:27619815|PMID:27679996|PMID:27750150|PMID:28332257|PMID:28476546|PMID:28492532|PMID:28554332|PMID:28716012|PMID:28976722|PMID:29352662|PMID:29439846|PMID:29451896|PMID:30138938|PMID:30267299|PMID:30442161|PMID:30548430|PMID:30675867|PMID:30809705|PMID:31367523|PMID:31761138|PMID:31776384|PMID:32779865|PMID:33083013|PMID:33240792|PMID:33558080|PMID:33737400|PMID:34426522|PMID:6791574|PMID:7586649|PMID:8068159|PMID:8112731|PMID:8198123|PMID:8213816|PMID:8500799|PMID:8652017|PMID:8922281|PMID:9203065|PMID:9781688 11755893 GLB1 galactosidase beta 1 gene DOID:0080502 GM1 gangliosidosis type 1 ISO RGD:1347574 D RGD:7240710 20190306 OMIM 11755893 GLB1 galactosidase beta 1 gene DOID:0080502 GM1 gangliosidosis type 1 ISO RGD:1347574 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement | ClinVar Annotator: match by term: Infantile GM1 gangliosidosis PMID:10338095|PMID:10737981|PMID:10839995|PMID:10841810|PMID:11504597|PMID:11511921|PMID:12644936|PMID:1353343|PMID:1487238|PMID:15365997|PMID:15714521|PMID:15906092|PMID:15943552|PMID:15986423|PMID:1606711|PMID:16199547|PMID:16314480|PMID:16538002|PMID:16617000|PMID:16626397|PMID:16674934|PMID:16941474|PMID:17221873|PMID:17309651|PMID:17576681|PMID:17664528|PMID:18524657|PMID:1907800|PMID:1909089|PMID:1928092|PMID:19472408|PMID:19644515|PMID:20175788|PMID:20920281|PMID:21497194|PMID:21520340|PMID:21637542|PMID:22128166|PMID:22234367|PMID:22371915|PMID:22675082|PMID:23151865|PMID:23337983|PMID:23430499|PMID:23430803|PMID:24033266|PMID:24156116|PMID:24767253|PMID:25326635|PMID:25443580|PMID:25557439|PMID:25600812|PMID:25741868|PMID:25936995|PMID:26169295|PMID:26646981|PMID:27619815|PMID:28332257|PMID:28492532|PMID:28554332|PMID:28716012|PMID:28976722|PMID:29160035|PMID:29439846|PMID:30138938|PMID:30267299|PMID:30408610|PMID:30548430|PMID:30809705|PMID:31761138|PMID:31776384|PMID:32219518|PMID:33737400|PMID:7586649|PMID:8068159|PMID:8112731|PMID:8198123|PMID:8199591|PMID:8213816|PMID:8500799|PMID:8652017|PMID:8922281|PMID:9203065|PMID:9536098|PMID:9781688 11755893 GLB1 galactosidase beta 1 gene DOID:0080502 GM1 gangliosidosis type 1 ISO RGD:1347574 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement | ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 1 | ClinVar Annotator: match by term: Infantile GM1 gangliosidosis PMID:10338095|PMID:10737981|PMID:10839995|PMID:10841810|PMID:11504597|PMID:11511921|PMID:11727201|PMID:12644936|PMID:12673792|PMID:1353343|PMID:1487238|PMID:15365997|PMID:15714521|PMID:15906092|PMID:15943552|PMID:15986423|PMID:1606711|PMID:16199547|PMID:16314480|PMID:16538002|PMID:16617000|PMID:16626397|PMID:16674934|PMID:16941474|PMID:17221873|PMID:17309651|PMID:17576681|PMID:17664528|PMID:18524657|PMID:1907800|PMID:1909089|PMID:1928092|PMID:19472408|PMID:19644515|PMID:20175788|PMID:20301601|PMID:20920281|PMID:21497194|PMID:21520340|PMID:21637542|PMID:22128166|PMID:22234367|PMID:22371915|PMID:22675082|PMID:23151865|PMID:23337983|PMID:23430499|PMID:23430803|PMID:24033266|PMID:24156116|PMID:24767253|PMID:25326635|PMID:25443580|PMID:25557439|PMID:25600812|PMID:25741868|PMID:25936995|PMID:26169295|PMID:26646981|PMID:27619815|PMID:27679996|PMID:28332257|PMID:28492532|PMID:28554332|PMID:28716012|PMID:28976722|PMID:29160035|PMID:29439846|PMID:30138938|PMID:30267299|PMID:30408610|PMID:30548430|PMID:30809705|PMID:31761138|PMID:31776384|PMID:32219518|PMID:33737400|PMID:7586649|PMID:8068159|PMID:8112731|PMID:8198123|PMID:8199591|PMID:8213816|PMID:8500799|PMID:8652017|PMID:8922281|PMID:9203065|PMID:9536098|PMID:9781688 11755893 GLB1 galactosidase beta 1 gene DOID:0110337 osteogenesis imperfecta type 7 ISO RGD:1347574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 PMID:28492532 11755893 GLB1 galactosidase beta 1 gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:1347574 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 6 PMID:10338095|PMID:11727201|PMID:12673792|PMID:15986423|PMID:16941474|PMID:17309651|PMID:18524657|PMID:20301601|PMID:21637542|PMID:24156116|PMID:25741868|PMID:25936995|PMID:28492532|PMID:31761138 11755893 GLB1 galactosidase beta 1 gene DOID:0111392 mucopolysaccharidosis type IVB ISO RGD:1347574 D RGD:7240710 20191030 OMIM 11755893 GLB1 galactosidase beta 1 gene DOID:0111392 mucopolysaccharidosis type IVB ISO RGD:1347574 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-B PMID:10338095|PMID:10737981|PMID:10744681|PMID:10839995|PMID:10841810|PMID:11504597|PMID:11511921|PMID:11727201|PMID:12393180|PMID:12644936|PMID:12673792|PMID:1353343|PMID:1487238|PMID:15365997|PMID:15714521|PMID:15791924|PMID:15906092|PMID:15943552|PMID:15986423|PMID:16199547|PMID:16314480|PMID:16538002|PMID:16617000|PMID:16626397|PMID:16674934|PMID:16941474|PMID:17221873|PMID:17309651|PMID:17576681|PMID:17661814|PMID:17664528|PMID:18353697|PMID:18524657|PMID:18546276|PMID:18571950|PMID:1907800|PMID:1909089|PMID:1928092|PMID:19472408|PMID:19644515|PMID:19763152|PMID:20175788|PMID:20301601|PMID:20307669|PMID:20409738|PMID:20920281|PMID:21214877|PMID:2149194|PMID:21497194|PMID:21520340|PMID:21637542|PMID:22128166|PMID:22234367|PMID:22371915|PMID:22406018|PMID:22675082|PMID:23046582|PMID:23151865|PMID:23337983|PMID:23430499|PMID:23430803|PMID:23757202|PMID:23831247|PMID:24033266|PMID:24156116|PMID:24777551|PMID:25326635|PMID:25326637|PMID:25443580|PMID:25525159|PMID:25557439|PMID:25600812|PMID:25741868|PMID:25936995|PMID:26108645|PMID:26169295|PMID:26646981|PMID:26990548|PMID:27619815|PMID:27679996|PMID:28332257|PMID:28476546|PMID:28492532|PMID:28554332|PMID:28716012|PMID:28976722|PMID:29160035|PMID:29352662|PMID:29396849|PMID:29439846|PMID:29451896|PMID:30138938|PMID:30187681|PMID:30267299|PMID:30408610|PMID:30442161|PMID:30548430|PMID:30555092|PMID:30675867|PMID:30703229|PMID:30809705|PMID:31367523|PMID:31497487|PMID:31761138|PMID:31776384|PMID:31905715|PMID:32005694|PMID:32219518|PMID:32779865|PMID:33083013|PMID:33240792|PMID:33558080|PMID:33673364|PMID:33737400|PMID:34426522|PMID:6791574|PMID:7586649|PMID:8068159|PMID:8112731|PMID:8198123|PMID:8199591|PMID:8213816|PMID:8500799|PMID:8652017|PMID:8922281|PMID:9203065|PMID:9536098|PMID:9781688 11755893 GLB1 galactosidase beta 1 gene DOID:0112280 spondyloepiphyseal dysplasia ISO RGD:1347574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia PMID:10841810|PMID:19472408|PMID:21497194|PMID:23831247|PMID:25741868|PMID:26646981|PMID:28492532|PMID:8922281 11755893 GLB1 galactosidase beta 1 gene DOID:1059 intellectual disability ISO RGD:1347574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11755893 GLB1 galactosidase beta 1 gene DOID:12804 mucopolysaccharidosis IV ISO RGD:1347574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Morquio syndrome 11755893 GLB1 galactosidase beta 1 gene DOID:2256 osteochondrodysplasia ISO RGD:1347574 D RGD:9068941 20230511 CTD CTD Direct Evidence: marker/mechanism PMID:817853 11755893 GLB1 galactosidase beta 1 gene DOID:2773 contact dermatitis ISO RGD:1347574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11755893 GLB1 galactosidase beta 1 gene DOID:3070 high grade glioma ISO RGD:1347574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11755893 GLB1 galactosidase beta 1 gene DOID:3310 atopic dermatitis ISO RGD:1347574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23042114 11755893 GLB1 galactosidase beta 1 gene DOID:3322 GM1 gangliosidosis ISO RGD:1347574 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Beta galactosidase 1 deficiency | ClinVar Annotator: match by term: GM1 gangliosidosis PMID:10338095|PMID:10737981|PMID:10839995|PMID:10841810|PMID:11504597|PMID:11511921|PMID:11727201|PMID:12393180|PMID:12644936|PMID:12673792|PMID:1353343|PMID:1487238|PMID:15365997|PMID:15714521|PMID:15906092|PMID:15943552|PMID:15986423|PMID:16314480|PMID:16538002|PMID:16617000|PMID:16626397|PMID:16674934|PMID:16941474|PMID:17221873|PMID:17309651|PMID:17664528|PMID:18524657|PMID:1907800|PMID:1909089|PMID:1928092|PMID:19472408|PMID:20175788|PMID:20301601|PMID:21214877|PMID:2149194|PMID:21497194|PMID:21520340|PMID:21637542|PMID:22128166|PMID:22675082|PMID:23151865|PMID:23337983|PMID:23430499|PMID:23430803|PMID:24033266|PMID:24156116|PMID:24777551|PMID:25326635|PMID:25443580|PMID:25557439|PMID:25600812|PMID:25741868|PMID:25936995|PMID:26108645|PMID:26169295|PMID:26646981|PMID:26990548|PMID:28332257|PMID:28476546|PMID:28492532|PMID:28554332|PMID:28716012|PMID:28976722|PMID:29352662|PMID:29396849|PMID:29439846|PMID:30267299|PMID:30408610|PMID:30548430|PMID:30555092|PMID:30809705|PMID:31367523|PMID:31761138|PMID:31776384|PMID:33083013|PMID:33240792|PMID:33737400|PMID:34426522|PMID:7586649|PMID:8068159|PMID:8112731|PMID:8213816|PMID:8500799|PMID:8652017|PMID:8922281|PMID:9203065|PMID:9781688 11755893 GLB1 galactosidase beta 1 gene DOID:3322 GM1 gangliosidosis treatment ISO RGD:10651 D RGD:9068941 20200609 RGD PMID:25964428|REF_RGD_ID:11086251 11755893 GLB1 galactosidase beta 1 gene DOID:5419 schizophrenia ISO RGD:1347574 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11755893 GLB1 galactosidase beta 1 gene DOID:630 genetic disease ISO RGD:1347574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10338095|PMID:11511921|PMID:15714521|PMID:15986423|PMID:17309651|PMID:17661814|PMID:19472408|PMID:20175788|PMID:21497194|PMID:21520340|PMID:22128166|PMID:23337983|PMID:25326637|PMID:25557439|PMID:25741868|PMID:28476546|PMID:28492532|PMID:28554332|PMID:29352662|PMID:30267299|PMID:30442161|PMID:31367523|PMID:31761138|PMID:33240792|PMID:33737400|PMID:6791574|PMID:8198123|PMID:8213816|PMID:8652017 11755893 GLB1 galactosidase beta 1 gene DOID:9008606 Corneal Opacity ISO RGD:1347574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:817853 11755893 GLB1 galactosidase beta 1 gene DOID:9008821 Otitis Media with Effusion ISO RGD:8953752 D RGD:9068941 20200609 RGD PMID:2837976|REF_RGD_ID:11557999 11755921 TREML1 triggering receptor expressed on myeloid cells like 1 gene DOID:630 genetic disease ISO RGD:1344660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755921 TREML1 triggering receptor expressed on myeloid cells like 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1344660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11755934 KRBA2 KRAB-A domain containing 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22431104|PMID:23172776|PMID:28492532 11755934 KRBA2 KRAB-A domain containing 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1603590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11755934 KRBA2 KRAB-A domain containing 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1603590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 11755934 KRBA2 KRAB-A domain containing 2 gene DOID:630 genetic disease ISO RGD:1603590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755952 FIGNL2 fidgetin like 2 gene DOID:630 genetic disease ISO RGD:1603328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755958 VWA8 von Willebrand factor A domain containing 8 gene DOID:12849 autistic disorder ISO RGD:1604630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20663923 11755958 VWA8 von Willebrand factor A domain containing 8 gene DOID:630 genetic disease ISO RGD:1604630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11755958 VWA8 von Willebrand factor A domain containing 8 gene DOID:9008086 Developmental Disabilities ISO RGD:1604630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:34660594|PMID:36937954 11756035 MUC19 mucin 19, oligomeric gene DOID:0050589 inflammatory bowel disease ISO RGD:1343631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983784 11756035 MUC19 mucin 19, oligomeric gene DOID:12894 Sjogren's syndrome ISO RGD:1320940 D RGD:9068941 20220825 MouseDO OMIM:270150 11756035 MUC19 mucin 19, oligomeric gene DOID:12894 Sjogren's syndrome ISO RGD:1343631 D RGD:9068941 20200609 RGD mRNA:decreased expression:conjunctival epithelial cell PMID:18184611|REF_RGD_ID:7364736 11756035 MUC19 mucin 19, oligomeric gene DOID:1324 lung cancer ISO RGD:1343631 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 11756035 MUC19 mucin 19, oligomeric gene DOID:5409 lung small cell carcinoma ISO RGD:1343631 D RGD:8554872 20230117 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 11756223 RBFOX1 RNA binding fox-1 homolog 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11756223 RBFOX1 RNA binding fox-1 homolog 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1606794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy PMID:25741868 11756223 RBFOX1 RNA binding fox-1 homolog 1 gene DOID:12849 autistic disorder ISO RGD:1606794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11756223 RBFOX1 RNA binding fox-1 homolog 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1606794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:16199547|PMID:17576681|PMID:23286373|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28346479|PMID:28492532|PMID:29358611|PMID:31602316|PMID:31780880|PMID:9536098 11756223 RBFOX1 RNA binding fox-1 homolog 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1606794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:26467025|PMID:28346479|PMID:28492532|PMID:29358611 11756223 RBFOX1 RNA binding fox-1 homolog 1 gene DOID:5419 schizophrenia ISO RGD:1606794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11756223 RBFOX1 RNA binding fox-1 homolog 1 gene DOID:630 genetic disease ISO RGD:1606794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11756223 RBFOX1 RNA binding fox-1 homolog 1 gene DOID:9256 colorectal cancer ISO RGD:1606794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 11756292 THG1L tRNA-histidine guanylyltransferase 1 like gene DOID:557 kidney disease ISO RGD:1603030 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21784897 11756292 THG1L tRNA-histidine guanylyltransferase 1 like gene DOID:630 genetic disease ISO RGD:1603030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28097321 11756292 THG1L tRNA-histidine guanylyltransferase 1 like gene DOID:9000784 Fibrosis ISO RGD:1603030 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21784897 11756292 THG1L tRNA-histidine guanylyltransferase 1 like gene DOID:9000809 Autosomal Recessive Spinocerebellar Ataxia 28 ISO RGD:1603030 D RGD:7240710 20200401 OMIM 11756292 THG1L tRNA-histidine guanylyltransferase 1 like gene DOID:9000809 Autosomal Recessive Spinocerebellar Ataxia 28 ISO RGD:1603030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 28 PMID:1168944|PMID:25741868|PMID:27307223|PMID:28097321 11756292 THG1L tRNA-histidine guanylyltransferase 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11756302 ZNF654 zinc finger protein 654 gene DOID:630 genetic disease ISO RGD:1345360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11756315 TFRC transferrin receptor gene DOID:0050642 hypochromic microcytic anemia ISO RGD:70503 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression: erythrocyte: PMID:18552213|REF_RGD_ID:11062089 11756315 TFRC transferrin receptor gene DOID:0060041 autism spectrum disorder ISO RGD:733275 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11756315 TFRC transferrin receptor gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16904380 11756315 TFRC transferrin receptor gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:733275 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 11756315 TFRC transferrin receptor gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:70488 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:23805238|REF_RGD_ID:11541090 11756315 TFRC transferrin receptor gene DOID:0111948 immunodeficiency 46 ISO RGD:733275 D RGD:7240710 20180130 OMIM 11756315 TFRC transferrin receptor gene DOID:0111948 immunodeficiency 46 ISO RGD:733275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TFRC-related combined immunodeficiency PMID:17576681|PMID:25741868|PMID:26642240|PMID:28492532|PMID:9536098 11756315 TFRC transferrin receptor gene DOID:0111962 combined immunodeficiency ISO RGD:733275 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:26642240 11756315 TFRC transferrin receptor gene DOID:10283 prostate cancer ISO RGD:733275 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15514585|REF_RGD_ID:2292017 11756315 TFRC transferrin receptor gene DOID:10608 celiac disease ISO RGD:70503 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:duodenum: PMID:15054143|REF_RGD_ID:11062102 11756315 TFRC transferrin receptor gene DOID:11054 urinary bladder cancer ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16904380 11756315 TFRC transferrin receptor gene DOID:11612 polycystic ovary syndrome ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11756315 TFRC transferrin receptor gene DOID:11758 iron deficiency anemia ISO RGD:70503 D RGD:9068941 20200609 RGD PMID:26303393|REF_RGD_ID:11062104 11756315 TFRC transferrin receptor gene DOID:11758 iron deficiency anemia ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16733738|PMID:17162259|PMID:17163184 11756315 TFRC transferrin receptor gene DOID:11758 iron deficiency anemia ISO RGD:733275 D RGD:9068941 20200609 RGD mRNA:increased expression:placenta: PMID:17877204|REF_RGD_ID:11062105 11756315 TFRC transferrin receptor gene DOID:11758 iron deficiency anemia ISO RGD:733275 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:15104997|REF_RGD_ID:11062096 11756315 TFRC transferrin receptor gene DOID:12241 beta thalassemia ISO RGD:70503 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:16755567|REF_RGD_ID:11062138 11756315 TFRC transferrin receptor gene DOID:12241 beta thalassemia ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16755567 11756315 TFRC transferrin receptor gene DOID:12849 autistic disorder ISO RGD:733275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11756315 TFRC transferrin receptor gene DOID:1612 breast cancer ISO RGD:733275 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:14965443|REF_RGD_ID:2292018 11756315 TFRC transferrin receptor gene DOID:1612 breast cancer severity ISO RGD:733275 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:11299801|REF_RGD_ID:2292021 11756315 TFRC transferrin receptor gene DOID:1724 duodenal ulcer ISO RGD:70488 D RGD:9068941 20200609 RGD protein:increased expression:duodenal mucosa PMID:19342511|REF_RGD_ID:11541091 11756315 TFRC transferrin receptor gene DOID:2351 iron metabolism disease ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17163184|PMID:17254562 11756315 TFRC transferrin receptor gene DOID:2394 ovarian cancer ISO RGD:733275 D RGD:9068941 20200609 RGD PMID:3493065|REF_RGD_ID:2298574 11756315 TFRC transferrin receptor gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:733275 D RGD:9068941 20200609 RGD PMID:9373912|REF_RGD_ID:2292023 11756315 TFRC transferrin receptor gene DOID:3070 high grade glioma ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16904380 11756315 TFRC transferrin receptor gene DOID:3459 breast carcinoma ISO RGD:733275 D RGD:9068941 20200609 RGD PMID:11497259|REF_RGD_ID:2292020 11756315 TFRC transferrin receptor gene DOID:3702 cervical adenocarcinoma ISO RGD:733275 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:9739406|REF_RGD_ID:2292022 11756315 TFRC transferrin receptor gene DOID:374 nutrition disease ISO RGD:70488 D RGD:9068941 20200609 RGD protein:decreased expression:T cell PMID:18373698|REF_RGD_ID:2292028 11756315 TFRC transferrin receptor gene DOID:3944 Arenaviridae infectious disease ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17287727 11756315 TFRC transferrin receptor gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:70503 D RGD:9068941 20221006 MouseDO OMIM:261800 11756315 TFRC transferrin receptor gene DOID:4450 renal cell carcinoma ISO RGD:733275 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney, T cell PMID:8050820|REF_RGD_ID:2292025 11756315 TFRC transferrin receptor gene DOID:4450 renal cell carcinoma ISO RGD:733275 D RGD:9068941 20200609 RGD protein:increased expression:kidney, T cell PMID:12394762|REF_RGD_ID:2292024 11756315 TFRC transferrin receptor gene DOID:5419 schizophrenia ISO RGD:733275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11756315 TFRC transferrin receptor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11756315 TFRC transferrin receptor gene DOID:627 severe combined immunodeficiency ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26642240 11756315 TFRC transferrin receptor gene DOID:630 genetic disease ISO RGD:733275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11756315 TFRC transferrin receptor gene DOID:684 hepatocellular carcinoma ISO RGD:70488 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:16953838|REF_RGD_ID:2292036 11756315 TFRC transferrin receptor gene DOID:767 muscular atrophy ISO RGD:70488 D RGD:9068941 20200609 RGD mRNA:decreased expression:gastrocnemius PMID:18395385|REF_RGD_ID:2292027 11756315 TFRC transferrin receptor gene DOID:8955 sideroblastic anemia ISO RGD:70503 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:erythroblast: PMID:21326867|REF_RGD_ID:11062136 11756315 TFRC transferrin receptor gene DOID:9000242 Lymphoma, AIDS-Related treatment ISO RGD:733275 D RGD:9068941 20200609 RGD PMID:26325374|REF_RGD_ID:11062098 11756315 TFRC transferrin receptor gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16904380 11756315 TFRC transferrin receptor gene DOID:9003281 Spontaneous Abortions ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11756315 TFRC transferrin receptor gene DOID:9004240 Phyllodes Tumor ISO RGD:733275 D RGD:9068941 20200609 RGD protein:increased expression:myoepithelial cell PMID:2174150|REF_RGD_ID:2292026 11756315 TFRC transferrin receptor gene DOID:9004713 Acute-Phase Reaction ISO RGD:70488 D RGD:9068941 20200609 RGD PMID:17417667|REF_RGD_ID:1601529 11756315 TFRC transferrin receptor gene DOID:9005172 Lung Neoplasms ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16904380 11756315 TFRC transferrin receptor gene DOID:9005372 Inflammation ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16603144 11756315 TFRC transferrin receptor gene DOID:9007102 Myocardial Ischemia ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11756315 TFRC transferrin receptor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21785164 11756315 TFRC transferrin receptor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18549825 11756315 TFRC transferrin receptor gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:70488 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:22639386|REF_RGD_ID:11541085 11756315 TFRC transferrin receptor gene DOID:9008114 Helicobacter Infections ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16733738|PMID:17163184 11756315 TFRC transferrin receptor gene DOID:9008443 Colorectal Neoplasms ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16111806 11756315 TFRC transferrin receptor gene DOID:9008939 Breast Neoplasms ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16904380|PMID:19238537 11756315 TFRC transferrin receptor gene DOID:9538 multiple myeloma treatment ISO RGD:733275 D RGD:9068941 20200609 RGD PMID:21654517|REF_RGD_ID:11062101 11756315 TFRC transferrin receptor gene DOID:9970 obesity ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17062801|PMID:20882379 11756338 CRIP3 cysteine rich protein 3 gene DOID:0050444 infantile Refsum disease ISO RGD:1343897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11756338 CRIP3 cysteine rich protein 3 gene DOID:630 genetic disease ISO RGD:1343897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11756338 CRIP3 cysteine rich protein 3 gene DOID:905 Zellweger syndrome ISO RGD:1343897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:0050424 familial adenomatous polyposis ISO RGD:734076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:25741868|PMID:26467025|PMID:28492532 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 ISO RGD:734076 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 PMID:25741868|PMID:28492532 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:0080199 colorectal carcinoma exacerbates ISO RGD:734076 D RGD:9068941 20220812 RGD protein:decreased expression:colorectum (human) PMID:32567205|REF_RGD_ID:151347643 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:1059 intellectual disability ISO RGD:734076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:1520 colon carcinoma ISO RGD:734076 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:15322521|PMID:15766587|PMID:19966286|PMID:25032700|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26206375|PMID:26467025|PMID:26648449|PMID:26811195|PMID:27435373|PMID:28125075|PMID:28492532|PMID:29120461|PMID:30680046|PMID:30827058|PMID:33144657|PMID:33193653|PMID:33332384 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:1612 breast cancer ISO RGD:734076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:23376243|PMID:24033266|PMID:24123366|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27153395|PMID:27535533|PMID:28492532 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:1924 hypogonadism ISO RGD:734076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770608 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:219 colon cancer ISO RGD:734076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:25741868|PMID:26467025|PMID:28492532 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:2394 ovarian cancer ISO RGD:734076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer PMID:25741868|PMID:26467025|PMID:28492532 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:2871 endometrial carcinoma ISO RGD:734076 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:12376507|PMID:17145065|PMID:25741868|PMID:26467025|PMID:28492532 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:734076 D RGD:9068941 20220818 RGD protein:increased expression:lung (human) PMID:33442399|REF_RGD_ID:153323317 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:4606 bile duct cancer ISO RGD:734076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bile duct cancer PMID:25741868|PMID:26467025|PMID:28492532 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:4905 pancreatic carcinoma ISO RGD:734076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:630 genetic disease ISO RGD:734076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:811 lipodystrophy ISO RGD:734076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770608 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9000066 Jaw Abnormalities ISO RGD:734076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770608 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9003949 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome ISO RGD:734076 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome PMID:17576681|PMID:23770608|PMID:24033266|PMID:25583476|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31780696|PMID:32885271|PMID:9536098 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9003949 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome susceptibility ISO RGD:734076 D RGD:7240710 20230505 OMIM 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:734076 D RGD:9068941 20220812 RGD associated with lung non-small cell carcinoma; DNA:SNPs:exon, introns: (rs1726801, rs1673041, rs3219341) (human) PMID:28924235|REF_RGD_ID:153323316 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10074927|PMID:12376507|PMID:15322521|PMID:15766587|PMID:16699561|PMID:16741161|PMID:17067213|PMID:17145065|PMID:17576681|PMID:17855454|PMID:19282447|PMID:19966286|PMID:20951805|PMID:21157497|PMID:21636617|PMID:23263490|PMID:23376243|PMID:23447401|PMID:23528559|PMID:24033266|PMID:24123366|PMID:24501277|PMID:25032700|PMID:25228659|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26206375|PMID:26344056|PMID:26467025|PMID:26580448|PMID:26648449|PMID:26648538|PMID:26689913|PMID:26748215|PMID:26811195|PMID:27153395|PMID:27161865|PMID:27435373|PMID:27535533|PMID:28125075|PMID:28166811|PMID:28306219|PMID:28423643|PMID:28492532|PMID:28608266|PMID:28687338|PMID:28790115|PMID:28912153|PMID:29212164|PMID:29717118|PMID:29880869|PMID:29917049|PMID:29987844|PMID:30083234|PMID:30086056|PMID:30267214|PMID:30827058|PMID:31285513|PMID:31449058|PMID:32792570|PMID:7704014|PMID:9536098 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734076 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10074927|PMID:12376507|PMID:15322521|PMID:15766587|PMID:16699561|PMID:16741161|PMID:17067213|PMID:17145065|PMID:17576681|PMID:17855454|PMID:19282447|PMID:19966286|PMID:20951805|PMID:21157497|PMID:21636617|PMID:23263490|PMID:23376243|PMID:23447401|PMID:23528559|PMID:24033266|PMID:24123366|PMID:24501277|PMID:25032700|PMID:25228659|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26206375|PMID:26344056|PMID:26467025|PMID:26580448|PMID:26648449|PMID:26648538|PMID:26689913|PMID:26748215|PMID:26811195|PMID:27153395|PMID:27161865|PMID:27435373|PMID:27535533|PMID:28125075|PMID:28306219|PMID:28423643|PMID:28492532|PMID:28608266|PMID:28687338|PMID:28790115|PMID:28912153|PMID:29212164|PMID:29717118|PMID:29880869|PMID:29917049|PMID:29987844|PMID:30083234|PMID:30086056|PMID:30267214|PMID:30827058|PMID:31285513|PMID:31449058|PMID:32359129|PMID:32567205|PMID:32792570|PMID:7704014|PMID:9536098 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734076 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10074927|PMID:12376507|PMID:15322521|PMID:15766587|PMID:16699561|PMID:16741161|PMID:17067213|PMID:17145065|PMID:17576681|PMID:17855454|PMID:19282447|PMID:19966286|PMID:20951805|PMID:21157497|PMID:21636617|PMID:23263490|PMID:23376243|PMID:23447401|PMID:23528559|PMID:24033266|PMID:24123366|PMID:24501277|PMID:25032700|PMID:25228659|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26206375|PMID:26344056|PMID:26467025|PMID:26580448|PMID:26648449|PMID:26648538|PMID:26689913|PMID:26748215|PMID:26811195|PMID:27153395|PMID:27161865|PMID:27435373|PMID:27535533|PMID:28125075|PMID:28306219|PMID:28423643|PMID:28492532|PMID:28608266|PMID:28687338|PMID:28790115|PMID:28912153|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29717118|PMID:29880869|PMID:29917049|PMID:29987844|PMID:30083234|PMID:30086056|PMID:30185652|PMID:30267214|PMID:30306255|PMID:30680046|PMID:30827058|PMID:31285513|PMID:31449058|PMID:32359129|PMID:32567205|PMID:32792570|PMID:33144657|PMID:33193653|PMID:33332384|PMID:7704014|PMID:9536098 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734076 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10074927|PMID:12376507|PMID:15322521|PMID:15766587|PMID:16699561|PMID:16741161|PMID:17067213|PMID:17145065|PMID:17576681|PMID:17855454|PMID:19282447|PMID:19966286|PMID:20951805|PMID:21157497|PMID:21636617|PMID:23263490|PMID:23376243|PMID:23447401|PMID:23528559|PMID:24033266|PMID:24123366|PMID:24501277|PMID:25032700|PMID:25228659|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26206375|PMID:26344056|PMID:26467025|PMID:26580448|PMID:26648449|PMID:26648538|PMID:26689913|PMID:26748215|PMID:26811195|PMID:27153395|PMID:27161865|PMID:27435373|PMID:27535533|PMID:27854218|PMID:28125075|PMID:28306219|PMID:28423643|PMID:28492532|PMID:28608266|PMID:28687338|PMID:28790115|PMID:28912153|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29717118|PMID:29880869|PMID:29917049|PMID:29987844|PMID:30083234|PMID:30086056|PMID:30185652|PMID:30267214|PMID:30306255|PMID:30680046|PMID:30827058|PMID:31285513|PMID:31449058|PMID:32359129|PMID:32567205|PMID:32792570|PMID:33144657|PMID:33193653|PMID:33332384|PMID:7704014|PMID:9536098 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10074927|PMID:12376507|PMID:15322521|PMID:15766587|PMID:16699561|PMID:17145065|PMID:17576681|PMID:19282447|PMID:19966286|PMID:20951805|PMID:21157497|PMID:21636617|PMID:23263490|PMID:23376243|PMID:23447401|PMID:23528559|PMID:24033266|PMID:24123366|PMID:24501277|PMID:25032700|PMID:25228659|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26206375|PMID:26344056|PMID:26467025|PMID:26580448|PMID:26648449|PMID:26648538|PMID:26689913|PMID:26748215|PMID:26811195|PMID:27153395|PMID:27161865|PMID:27435373|PMID:27535533|PMID:27854218|PMID:28125075|PMID:28306219|PMID:28423643|PMID:28492532|PMID:28608266|PMID:28687338|PMID:28790115|PMID:28912153|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29717118|PMID:29880869|PMID:29917049|PMID:29987844|PMID:30083234|PMID:30086056|PMID:30185652|PMID:30267214|PMID:30306255|PMID:30680046|PMID:30827058|PMID:31285513|PMID:31422818|PMID:31449058|PMID:32359129|PMID:32567205|PMID:32634176|PMID:32792570|PMID:32885271|PMID:32984025|PMID:33144657|PMID:33193653|PMID:33332384|PMID:33436027|PMID:34130653|PMID:7704014|PMID:9536098 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734076 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10074927|PMID:12376507|PMID:15322521|PMID:15766587|PMID:16699561|PMID:17145065|PMID:17576681|PMID:19282447|PMID:19966286|PMID:20951805|PMID:21157497|PMID:21636617|PMID:23263490|PMID:23376243|PMID:23447401|PMID:23528559|PMID:24033266|PMID:24123366|PMID:24501277|PMID:25032700|PMID:25228659|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26206375|PMID:26344056|PMID:26467025|PMID:26580448|PMID:26648449|PMID:26648538|PMID:26689913|PMID:26748215|PMID:26811195|PMID:27153395|PMID:27161865|PMID:27435373|PMID:27535533|PMID:28125075|PMID:28306219|PMID:28423643|PMID:28492532|PMID:28608266|PMID:28687338|PMID:28790115|PMID:28912153|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29717118|PMID:29880869|PMID:29917049|PMID:29987844|PMID:30083234|PMID:30086056|PMID:30185652|PMID:30267214|PMID:30306255|PMID:30680046|PMID:30827058|PMID:31285513|PMID:31422818|PMID:31449058|PMID:32359129|PMID:32567205|PMID:32634176|PMID:32792570|PMID:32885271|PMID:32984025|PMID:33144657|PMID:33193653|PMID:33332384|PMID:33436027|PMID:34130653|PMID:7704014|PMID:9536098 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9007653 Multiple Abnormalities ISO RGD:734076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770608 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9007715 Endometrial Neoplasms ISO RGD:734076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23263490 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9008443 Colorectal Neoplasms ISO RGD:734076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23263490 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9008443 Colorectal Neoplasms ISO RGD:734076 D RGD:9068941 20220812 RGD DNA:nonsense mutation, missense mutation:CDS:p.195*, p.V759I (human) PMID:30086056|REF_RGD_ID:151347647 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9008681 Deafness ISO RGD:734076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770608 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9009054 Colorectal Cancer 10 ISO RGD:734076 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 19q | ClinVar Annotator: match by term: Colorectal cancer 10 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 10 PMID:10074927|PMID:10541966|PMID:12376507|PMID:14767555|PMID:15322521|PMID:15766587|PMID:16699561|PMID:17121822|PMID:17145065|PMID:17576681|PMID:19282447|PMID:19718023|PMID:19966286|PMID:20951805|PMID:21157497|PMID:21258395|PMID:21636617|PMID:23065663|PMID:23245697|PMID:23263490|PMID:23283971|PMID:23376243|PMID:23447401|PMID:23528559|PMID:23770608|PMID:24033266|PMID:24123366|PMID:24501277|PMID:24861832|PMID:25032700|PMID:25131834|PMID:25202305|PMID:25217194|PMID:25228659|PMID:25370038|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25625332|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25827231|PMID:25938944|PMID:26133394|PMID:26172944|PMID:26206375|PMID:26344056|PMID:26438511|PMID:26467025|PMID:26580448|PMID:26648449|PMID:26648538|PMID:26689913|PMID:26748215|PMID:26811195|PMID:27153395|PMID:27161865|PMID:27320729|PMID:27435373|PMID:27535533|PMID:28125075|PMID:28202063|PMID:28306219|PMID:28368425|PMID:28423643|PMID:28492532|PMID:28608266|PMID:28687338|PMID:28717660|PMID:28790115|PMID:28912153|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29406563|PMID:29717118|PMID:29880869|PMID:29917049|PMID:29987844|PMID:30083234|PMID:30086056|PMID:30093976|PMID:30185652|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30680046|PMID:30827058|PMID:31285513|PMID:31422818|PMID:31449058|PMID:31629014|PMID:31750734|PMID:31780696|PMID:31866764|PMID:31944473|PMID:32255556|PMID:32265515|PMID:32359129|PMID:32567205|PMID:32634176|PMID:32792570|PMID:32885271|PMID:32984025|PMID:33144657|PMID:33193653|PMID:33332384|PMID:33436027|PMID:34130653|PMID:7704014|PMID:9536098 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9009054 Colorectal Cancer 10 susceptibility ISO RGD:734076 D RGD:7240710 20190502 OMIM 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:734076 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:24033266|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26467025|PMID:26648449|PMID:26648538|PMID:28125075|PMID:28492532|PMID:28608266|PMID:29212164|PMID:29987844|PMID:30083234|PMID:30374176|PMID:30827058|PMID:31285513|PMID:31449058 11756363 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:734076 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer PMID:24033266|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26467025|PMID:26648449|PMID:26648538|PMID:28125075|PMID:28492532|PMID:28608266|PMID:29212164|PMID:29987844|PMID:30083234|PMID:30374176|PMID:30680046|PMID:30827058|PMID:31285513|PMID:31449058|PMID:32792570|PMID:33193653|PMID:33332384 11756398 WDR46 WD repeat domain 46 gene DOID:0050553 JMP syndrome ISO RGD:1353590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11756398 WDR46 WD repeat domain 46 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1353590 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 11756398 WDR46 WD repeat domain 46 gene DOID:630 genetic disease ISO RGD:1353590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11756398 WDR46 WD repeat domain 46 gene DOID:9000217 Stomach Neoplasms ISO RGD:1353590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11756398 WDR46 WD repeat domain 46 gene DOID:9000918 Disease Progression ISO RGD:1353590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11756417 SETD5 SET domain containing 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11756417 SETD5 SET domain containing 5 gene DOID:0060417 3p deletion syndrome ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:21681106 11756417 SETD5 SET domain containing 5 gene DOID:0070053 autosomal dominant intellectual developmental disorder 23 ISO RGD:1605381 D RGD:7240710 20180130 OMIM 11756417 SETD5 SET domain containing 5 gene DOID:0070053 autosomal dominant intellectual developmental disorder 23 ISO RGD:1605381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 23 | ClinVar Annotator: match by term: SETD5-Related Disorder PMID:18414213|PMID:23020937|PMID:24680889|PMID:25138099|PMID:25741868|PMID:26482601|PMID:28191889|PMID:28492532|PMID:28549204|PMID:28881385|PMID:28905509|PMID:28990276|PMID:29484850|PMID:31337854|PMID:31474762|PMID:33004838|PMID:34169511|PMID:34906502 11756417 SETD5 SET domain containing 5 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1605381 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:25741868 11756417 SETD5 SET domain containing 5 gene DOID:0080918 polymicrogyria ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:32581362 11756417 SETD5 SET domain containing 5 gene DOID:10283 prostate cancer severity ISO RGD:1605381 D RGD:9068941 20230112 RGD PMID:30616239|REF_RGD_ID:155804256 11756417 SETD5 SET domain containing 5 gene DOID:1059 intellectual disability ISO RGD:1605381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11756417 SETD5 SET domain containing 5 gene DOID:10907 microcephaly ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11756417 SETD5 SET domain containing 5 gene DOID:12849 autistic disorder ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:28492532 11756417 SETD5 SET domain containing 5 gene DOID:14780 KBG syndrome ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: KBG syndrome 11756417 SETD5 SET domain containing 5 gene DOID:1612 breast cancer ISO RGD:1605381 D RGD:9068941 20230112 RGD PMID:35063407|REF_RGD_ID:155804257 11756417 SETD5 SET domain containing 5 gene DOID:2843 long QT syndrome ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11756417 SETD5 SET domain containing 5 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1605381 D RGD:9068941 20230112 RGD PMID:31981592|REF_RGD_ID:155804254 11756417 SETD5 SET domain containing 5 gene DOID:630 genetic disease ISO RGD:1605381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24680889|PMID:25741868|PMID:26482601|PMID:28492532|PMID:28881385|PMID:34169511 11756417 SETD5 SET domain containing 5 gene DOID:6406 double outlet right ventricle ISO RGD:1321331 D RGD:9068941 20230112 RGD PMID:34050709|REF_RGD_ID:155794379 11756417 SETD5 SET domain containing 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:23020937|PMID:24680889|PMID:25138099|PMID:25741868|PMID:28492532|PMID:28990276 11756417 SETD5 SET domain containing 5 gene DOID:9006249 RADIO-TARTAGLIA SYNDROME ISO RGD:1605381 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Radio-Tartaglia syndrome PMID:25741868 11756417 SETD5 SET domain containing 5 gene DOID:9007958 Hyperphosphatasia with Mental Retardation Syndrome 4 ISO RGD:1605381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4 11756417 SETD5 SET domain containing 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11756417 SETD5 SET domain containing 5 gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 11756417 SETD5 SET domain containing 5 gene DOID:9008582 Developmental Disease ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11756417 SETD5 SET domain containing 5 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 11756490 RHOBTB3 Rho related BTB domain containing 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1323267 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11756490 RHOBTB3 Rho related BTB domain containing 3 gene DOID:0080600 COVID-19 ISO RGD:1323267 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11756490 RHOBTB3 Rho related BTB domain containing 3 gene DOID:630 genetic disease ISO RGD:1323267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11756490 RHOBTB3 Rho related BTB domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11756490 RHOBTB3 Rho related BTB domain containing 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323267 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11756506 RPS18 ribosomal protein S18 gene DOID:0050553 JMP syndrome ISO RGD:1342484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11756506 RPS18 ribosomal protein S18 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1342484 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 11756516 SMAD1 SMAD family member 1 gene DOID:0060001 withdrawal disorder ISO RGD:1353457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 11756516 SMAD1 SMAD family member 1 gene DOID:0080600 COVID-19 ISO RGD:1353457 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11756516 SMAD1 SMAD family member 1 gene DOID:1184 nephrotic syndrome ISO RGD:3030 D RGD:9068941 20200609 RGD PMID:17803470|REF_RGD_ID:1643224 11756516 SMAD1 SMAD family member 1 gene DOID:12336 male infertility ISO RGD:3030 D RGD:9068941 20200609 RGD protein:decreased expression:spermatogonia, spermatocytes, spermatids PMID:15704675|REF_RGD_ID:1643234 11756516 SMAD1 SMAD family member 1 gene DOID:2921 glomerulonephritis ISO RGD:3030 D RGD:9068941 20200609 RGD protein:increased phosphorylation:glomerulus PMID:15591053|REF_RGD_ID:1643235 11756516 SMAD1 SMAD family member 1 gene DOID:2999 granulosa cell tumor ISO RGD:734156 D RGD:9068941 20200609 RGD PMID:17967875|REF_RGD_ID:2299978 11756516 SMAD1 SMAD family member 1 gene DOID:630 genetic disease ISO RGD:1353457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11756516 SMAD1 SMAD family member 1 gene DOID:6432 pulmonary hypertension ISO RGD:3030 D RGD:9068941 20200609 RGD protein:decreased expression, increased phosphorylation:lung PMID:18367643|REF_RGD_ID:12903274 11756516 SMAD1 SMAD family member 1 gene DOID:6432 pulmonary hypertension ISO RGD:3030 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:lung, vascular associated smooth muscle cell PMID:17347486|REF_RGD_ID:1643222 11756516 SMAD1 SMAD family member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3030 D RGD:9068941 20200609 RGD PMID:16447265|REF_RGD_ID:1643229 11756516 SMAD1 SMAD family member 1 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:3030 D RGD:9068941 20200609 RGD mRNA:increased expression:hypoglossal nucleus PMID:17166487|REF_RGD_ID:1643227 11756516 SMAD1 SMAD family member 1 gene DOID:9004207 Testicular Neoplasms ISO RGD:734156 D RGD:9068941 20200609 RGD PMID:17967875|REF_RGD_ID:2299978 11756516 SMAD1 SMAD family member 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1353457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 11756516 SMAD1 SMAD family member 1 gene DOID:9005643 Experimental Diabetes Mellitus severity ISO RGD:3030 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus, urine PMID:16482100|REF_RGD_ID:1643228 11756516 SMAD1 SMAD family member 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1353457 D RGD:9068941 20200609 RGD PMID:15911698|REF_RGD_ID:1643233 11756516 SMAD1 SMAD family member 1 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1353457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:21898662|PMID:26387786 11756537 ANAPC4 anaphase promoting complex subunit 4 gene DOID:630 genetic disease ISO RGD:1315264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11756574 ASB7 ankyrin repeat and SOCS box containing 7 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1313017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 11756574 ASB7 ankyrin repeat and SOCS box containing 7 gene DOID:630 genetic disease ISO RGD:1313017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11756574 ASB7 ankyrin repeat and SOCS box containing 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11756585 EEF1AKMT4 EEF1A lysine methyltransferase 4 gene DOID:0111546 Currarino syndrome ISO RGD:12914190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11756585 EEF1AKMT4 EEF1A lysine methyltransferase 4 gene DOID:630 genetic disease ISO RGD:12914190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11756642 ZNF517 zinc finger protein 517 gene DOID:630 genetic disease ISO RGD:1346699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11756651 NRG3 neuregulin 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1317640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon PMID:28492532 11756651 NRG3 neuregulin 3 gene DOID:5419 schizophrenia ISO RGD:1317640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20713722 11756651 NRG3 neuregulin 3 gene DOID:5419 schizophrenia ISO RGD:1317641 D RGD:9068941 20220825 MouseDO OMIM:181500 11756651 NRG3 neuregulin 3 gene DOID:630 genetic disease ISO RGD:1317640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11756665 HAGH hydroxyacylglutathione hydrolase gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 11756665 HAGH hydroxyacylglutathione hydrolase gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736814 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11756665 HAGH hydroxyacylglutathione hydrolase gene DOID:1826 epilepsy ISO RGD:736814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11756665 HAGH hydroxyacylglutathione hydrolase gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11756665 HAGH hydroxyacylglutathione hydrolase gene DOID:630 genetic disease ISO RGD:736814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11756665 HAGH hydroxyacylglutathione hydrolase gene DOID:9000559 Glyoxalase II Deficiency ISO RGD:736814 D RGD:7240710 20210317 OMIM 11756665 HAGH hydroxyacylglutathione hydrolase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736814 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11756675 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:0050434 Andersen-Tawil syndrome ISO RGD:1349904 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Andersen Tawil syndrome | ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features PMID:20560207|PMID:21311022|PMID:22203740|PMID:24574546|PMID:25417227|PMID:25741868|PMID:28492532|PMID:30764634|PMID:31521807 11756675 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:0060224 atrial fibrillation ISO RGD:1349904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11756675 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:0060224 atrial fibrillation ISO RGD:1349904 D RGD:9068941 20200609 RGD PMID:11693772|REF_RGD_ID:1581701 11756675 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:0110644 long QT syndrome 1 ISO RGD:1349904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:25741868|PMID:28492532 11756675 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:0110654 long QT syndrome 13 ISO RGD:1349904 D RGD:7240710 20180130 OMIM 11756675 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:0110654 long QT syndrome 13 ISO RGD:1349904 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long QT syndrome 13 PMID:20560207|PMID:24574546|PMID:25417227|PMID:25741868|PMID:26350513|PMID:28492532|PMID:29016797|PMID:29396561|PMID:29467578|PMID:29726953|PMID:30764634|PMID:30847666|PMID:31521807|PMID:34426522 11756675 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1349904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11756675 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1349904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 11756675 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:1349904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 11756675 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:13884 sick sinus syndrome ISO RGD:1349904 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26831068 11756675 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:2843 long QT syndrome ISO RGD:1349904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:17967416|PMID:20560207|PMID:22203740|PMID:22308486|PMID:24420545|PMID:24574546|PMID:24819081|PMID:25741868|PMID:26350513|PMID:28492532|PMID:29467578|PMID:31388123 11756675 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:2843 long QT syndrome ISO RGD:1349904 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:17576681|PMID:17967416|PMID:20560207|PMID:21311022|PMID:22203740|PMID:22308486|PMID:22315453|PMID:22645387|PMID:24420545|PMID:24574546|PMID:24819081|PMID:25347571|PMID:25417227|PMID:25741868|PMID:26350513|PMID:27099398|PMID:27707468|PMID:28032242|PMID:28492532|PMID:28986455|PMID:29016797|PMID:29396561|PMID:29467578|PMID:29726953|PMID:30086531|PMID:30764634|PMID:30847666|PMID:30975432|PMID:31388123|PMID:31521807|PMID:34426522|PMID:9536098 11756675 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:5419 schizophrenia ISO RGD:1349904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11756675 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:630 genetic disease ISO RGD:1349904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11756675 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:657 adenoma ISO RGD:1349904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23913001|PMID:23913004 11756675 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:9000644 Familial Hyperaldosteronism, Type III ISO RGD:1349904 D RGD:7240710 20180130 OMIM 11756675 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:9000644 Familial Hyperaldosteronism, Type III ISO RGD:1349904 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hyperaldosteronism type 3 | ClinVar Annotator: match by term: Familial hyperaldosteronism type III PMID:20560207|PMID:21311022|PMID:22203740|PMID:22252394|PMID:22308486|PMID:22628607|PMID:23829355|PMID:24037882|PMID:24420545|PMID:24506072|PMID:24574546|PMID:24819081|PMID:25057880|PMID:25741868|PMID:26350513|PMID:28447626|PMID:28492532|PMID:29016797|PMID:29396561|PMID:29726953|PMID:30847666|PMID:34426522 11756675 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:9000644 Familial Hyperaldosteronism, Type III ISO RGD:1349904 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial hyperaldosteronism type 3 | ClinVar Annotator: match by term: Familial hyperaldosteronism type III PMID:20560207|PMID:21311022|PMID:22203740|PMID:22252394|PMID:22308486|PMID:22628607|PMID:23829355|PMID:24037882|PMID:24420545|PMID:24506072|PMID:24574546|PMID:24819081|PMID:25057880|PMID:25417227|PMID:25741868|PMID:26350513|PMID:28447626|PMID:28492532|PMID:29016797|PMID:29396561|PMID:29726953|PMID:30764634|PMID:30847666|PMID:31521807|PMID:34426522 11756675 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:9003163 Heart Block ISO RGD:1349904 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26831068 11756675 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1349904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11756675 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:9004228 Familial Hyperaldosteronism ISO RGD:1349904 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hyperaldosteronism PMID:25741868|PMID:28492532 11756675 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1349904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:25741868|PMID:28492532 11756675 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:9007661 Dwarfism ISO RGD:1349904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11756710 PROK1 prokineticin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736057 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11756710 PROK1 prokineticin 1 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:736057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 11756710 PROK1 prokineticin 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:736057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11756710 PROK1 prokineticin 1 gene DOID:12849 autistic disorder ISO RGD:736057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11756710 PROK1 prokineticin 1 gene DOID:630 genetic disease ISO RGD:736057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11756718 EIF4G1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1314591 D RGD:7240710 20180130 OMIM 11756718 EIF4G1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1314591 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Parkinson disease 18, autosomal dominant, susceptibility to PMID:21907011|PMID:23408866|PMID:25368108|PMID:25741868|PMID:28492532 11756718 EIF4G1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1314591 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11756718 EIF4G1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1314591 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11756718 EIF4G1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:0080600 COVID-19 ISO RGD:1314591 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11756718 EIF4G1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:0111546 Currarino syndrome ISO RGD:1314591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11756718 EIF4G1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:12849 autistic disorder ISO RGD:1314591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20957522 11756718 EIF4G1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:630 genetic disease ISO RGD:1314591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11756718 EIF4G1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1306144 D RGD:9068941 20200609 RGD PMID:16439989|REF_RGD_ID:10401145 11756775 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1318099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome PMID:16199547|PMID:17576681|PMID:19525956|PMID:20358604|PMID:20653736|PMID:20842748|PMID:21102625|PMID:21204240|PMID:22174685|PMID:22461318|PMID:22691373|PMID:22973040|PMID:24033266|PMID:24183309|PMID:25604658|PMID:25741868|PMID:26467025|PMID:27604406|PMID:28229507|PMID:28492532|PMID:30275001|PMID:34492268|PMID:9536098 11756775 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:1883 hepatitis C ISO RGD:1318099 D RGD:9068941 20210730 RGD associated with hepatocellular carcinoma;DNA:insertion:exon 4: (human) PMID:24317272|REF_RGD_ID:149735572 11756775 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:1969 cerebral palsy ISO RGD:1318099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy 11756775 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:2043 hepatitis B ISO RGD:1318099 D RGD:9068941 20210730 RGD associated with hepatocellular carcinoma;DNA:insertion:exon 4: (human) PMID:24317272|REF_RGD_ID:149735572 11756775 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:2234 focal epilepsy ISO RGD:1318099 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11756775 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:630 genetic disease ISO RGD:1318099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11756775 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9000761 Deoxyguanosine Kinase Deficiency ISO RGD:1318099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26342080 11756775 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9004067 Chilblain Lupus 2 ISO RGD:1318099 D RGD:7240710 20180130 OMIM 11756775 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9004067 Chilblain Lupus 2 ISO RGD:1318099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chilblain lupus 2 PMID:19525956|PMID:20653736|PMID:21204240|PMID:22461318|PMID:22691373|PMID:22973040|PMID:24033266|PMID:25604658|PMID:25741868|PMID:26467025|PMID:27604406|PMID:28229507|PMID:28492532|PMID:30275001 11756775 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9005881 Chilblain Lupus 1 ISO RGD:1318099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27566796 11756775 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9006262 Cytomegalovirus Infections exacerbates ISO RGD:1318100 D RGD:9068941 20210723 RGD PMID:31548683|REF_RGD_ID:149735526 11756775 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1318099 D RGD:7240710 20180130 OMIM 11756775 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1318099 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:16199547|PMID:17576681|PMID:19525956|PMID:20131292|PMID:20358604|PMID:20653736|PMID:20842748|PMID:21102625|PMID:21204240|PMID:21402907|PMID:22174685|PMID:22461318|PMID:22691373|PMID:22973040|PMID:24033266|PMID:24035396|PMID:24183309|PMID:24300241|PMID:24316776|PMID:24989684|PMID:25604658|PMID:25640679|PMID:25741868|PMID:26273690|PMID:26431200|PMID:26467025|PMID:26504826|PMID:27604406|PMID:27643693|PMID:28229507|PMID:28454995|PMID:28492532|PMID:28851465|PMID:29239743|PMID:29379009|PMID:30275001|PMID:30487145|PMID:31130681|PMID:31797533|PMID:32371413|PMID:33683010|PMID:33857133|PMID:34492268|PMID:35590234|PMID:9536098 11756775 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9119 acute myeloid leukemia severity ISO RGD:1318099 D RGD:9068941 20210723 RGD human cell line in mouse model PMID:30474474|REF_RGD_ID:149735523 11756775 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9538 multiple myeloma ISO RGD:1318099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11756798 IVD isovaleryl-CoA dehydrogenase gene DOID:14753 isovaleric acidemia ISO RGD:735606 D RGD:7240710 20180130 OMIM 11756798 IVD isovaleryl-CoA dehydrogenase gene DOID:14753 isovaleric acidemia ISO RGD:735606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isovaleric acidemia, type I | ClinVar Annotator: match by term: Isovaleric acidemia, type II | ClinVar Annotator: match by term: Isovaleryl-CoA dehydrogenase deficiency PMID:10677295|PMID:10713113|PMID:110677295|PMID:12767731|PMID:1310317|PMID:15337167|PMID:15486829|PMID:16199547|PMID:16602101|PMID:16825284|PMID:17027310|PMID:17576084|PMID:17576681|PMID:19089597|PMID:19099814|PMID:20519759|PMID:2063866|PMID:22004070|PMID:22350545|PMID:22960500|PMID:2318964|PMID:24019846|PMID:24059531|PMID:24516753|PMID:24637313|PMID:25220015|PMID:25741868|PMID:26018748|PMID:26589311|PMID:26937393|PMID:27629047|PMID:27904153|PMID:28492532|PMID:28535199|PMID:29402417|PMID:30159853|PMID:30838026|PMID:30904546|PMID:31442447|PMID:31589614|PMID:31707166|PMID:32505769|PMID:32778825|PMID:32977617|PMID:33123633|PMID:33496032|PMID:33521113|PMID:33565069|PMID:34535384|PMID:9536098|PMID:9665741 11756798 IVD isovaleryl-CoA dehydrogenase gene DOID:2717 Bloom syndrome ISO RGD:735606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11756798 IVD isovaleryl-CoA dehydrogenase gene DOID:630 genetic disease ISO RGD:735606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10677295|PMID:15337167|PMID:15486829|PMID:16199547|PMID:16602101|PMID:17027310|PMID:17576084|PMID:19099814|PMID:22960500|PMID:24059531|PMID:24516753|PMID:25220015|PMID:25741868|PMID:26589311|PMID:26937393|PMID:27904153|PMID:28492532|PMID:28535199|PMID:31442447|PMID:31707166|PMID:32778825|PMID:32977617|PMID:33123633|PMID:33496032|PMID:9665741 11756798 IVD isovaleryl-CoA dehydrogenase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735606 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11756798 IVD isovaleryl-CoA dehydrogenase gene DOID:9252 amino acid metabolic disorder ISO RGD:735606 D RGD:9068941 20200609 RGD isovaleric acidemia, OMIM:243500 PMID:2063866|REF_RGD_ID:1600039 11756798 IVD isovaleryl-CoA dehydrogenase gene DOID:9256 colorectal cancer ISO RGD:735606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11756825 RNPEP arginyl aminopeptidase gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:733030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11756825 RNPEP arginyl aminopeptidase gene DOID:10763 hypertension ISO RGD:621137 D RGD:9068941 20200609 RGD PMID:3001599|REF_RGD_ID:2325950 11756825 RNPEP arginyl aminopeptidase gene DOID:10763 hypertension ISO RGD:621137 D RGD:9068941 20200609 RGD protein:increased expression:adrenal gland, neurohypophysis PMID:9660082|REF_RGD_ID:2325942 11756825 RNPEP arginyl aminopeptidase gene DOID:1540 parathyroid carcinoma ISO RGD:733030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11756825 RNPEP arginyl aminopeptidase gene DOID:630 genetic disease ISO RGD:733030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11756825 RNPEP arginyl aminopeptidase gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:733030 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11756825 RNPEP arginyl aminopeptidase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:621137 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16619500|REF_RGD_ID:1582109 11756825 RNPEP arginyl aminopeptidase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733030 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16619500 11756825 RNPEP arginyl aminopeptidase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11756840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:0050912 colon adenoma ISO RGD:735457 D RGD:9068941 20220519 RGD protein:increased expression:colon (human) PMID:29079724|REF_RGD_ID:152177516 11756840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:0060041 autism spectrum disorder ISO RGD:735457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11756840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:10283 prostate cancer ISO RGD:735457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11756840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:1059 intellectual disability ISO RGD:735457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 11756840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:11446 sciatic neuropathy ISO RGD:70973 D RGD:9068941 20200609 RGD mRNA:decreased expression:spinal cord dorsal horn PMID:16026470|REF_RGD_ID:6906922 11756840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:13884 sick sinus syndrome ISO RGD:735457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26831068 11756840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:1826 epilepsy ISO RGD:735457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11756840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:234 colon adenocarcinoma disease_progression ISO RGD:735457 D RGD:9068941 20220519 RGD protein:increased expression:colon (human) PMID:29079724|REF_RGD_ID:152177516 11756840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:3312 bipolar disorder ISO RGD:735457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28194001 11756840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:446 primary hyperaldosteronism ISO RGD:735457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23913001 11756840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:630 genetic disease ISO RGD:735457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26467025|PMID:26680202|PMID:28492532|PMID:32561571|PMID:33432195 11756840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:657 adenoma ISO RGD:735457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23913001|PMID:23913004 11756840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9000006 Supraventricular Tachycardia ISO RGD:735457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26831068 11756840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9000307 Presbycusis ISO RGD:735458 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cochlea PMID:23470431|REF_RGD_ID:10045570 11756840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9002231 Fetal Growth Retardation ISO RGD:70973 D RGD:9068941 20220609 RGD protein:decreased expression:pancreas (rat) PMID:20873977|REF_RGD_ID:152985538 11756840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9003163 Heart Block ISO RGD:735457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26831068 11756840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9003830 Primary Aldosteronism, Seizures, and Neurologic Abnormalities ISO RGD:735457 D RGD:7240710 20180130 OMIM 11756840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9003830 Primary Aldosteronism, Seizures, and Neurologic Abnormalities ISO RGD:735457 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CACNA1D-related disorder | ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities PMID:23913001|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28318089|PMID:28492532 11756840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9004120 Alcohol Withdrawal Seizures susceptibility ISO RGD:70973 D RGD:9068941 20220609 RGD mRNA, protein:increased expression:inferior colliculus (rat) PMID:25556199|REF_RGD_ID:152985539 11756840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9004538 Hearing Loss ISO RGD:735457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:16199547|PMID:28492532|PMID:30311386 11756840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9004852 Sinoatrial Node Dysfunction and Deafness ISO RGD:735457 D RGD:7240710 20180130 OMIM 11756840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9004852 Sinoatrial Node Dysfunction and Deafness ISO RGD:735457 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sinoatrial node dysfunction and deafness PMID:21131953|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30498240|PMID:32747562 11756840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9006205 Animal Disease Models ISO RGD:735457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26831068 11756840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9007001 Bradycardia ISO RGD:735457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26831068 11756840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9008023 Memory Disorders ISO RGD:70973 D RGD:9068941 20200609 RGD PMID:12591156|REF_RGD_ID:704382 11756840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:70973 D RGD:9068941 20200609 RGD PMID:18947822|REF_RGD_ID:6906919 11756840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9008681 Deafness ISO RGD:735457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15357422 11756840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9008681 Deafness ISO RGD:735458 D RGD:9068941 20200609 RGD PMID:10929716|REF_RGD_ID:1300292 11756840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9352 type 2 diabetes mellitus ISO RGD:735457 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet: PMID:23229155|REF_RGD_ID:13506727 11756840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:735457 D RGD:9068941 20200609 RGD DNA:SNPs: :rs9841978,rs312486(human) PMID:23229155|REF_RGD_ID:13506727 11756906 DZIP1L DAZ interacting zinc finger protein 1 like gene DOID:0080273 polycystic kidney disease 5 ISO RGD:1344571 D RGD:7240710 20190315 OMIM 11756906 DZIP1L DAZ interacting zinc finger protein 1 like gene DOID:0080273 polycystic kidney disease 5 ISO RGD:1344571 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 5 PMID:25741868|PMID:28492532|PMID:28530676 11756906 DZIP1L DAZ interacting zinc finger protein 1 like gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1344571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28530676 11756906 DZIP1L DAZ interacting zinc finger protein 1 like gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1549981 D RGD:9068941 20220825 MouseDO OMIM:263200 11756906 DZIP1L DAZ interacting zinc finger protein 1 like gene DOID:630 genetic disease ISO RGD:1344571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11756926 BTN3A3 butyrophilin subfamily 3 member A3 gene DOID:630 genetic disease ISO RGD:1349753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11756941 DRAXIN dorsal inhibitory axon guidance protein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1605526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11756941 DRAXIN dorsal inhibitory axon guidance protein gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1605526 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11756941 DRAXIN dorsal inhibitory axon guidance protein gene DOID:0080600 COVID-19 ISO RGD:1605526 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11756941 DRAXIN dorsal inhibitory axon guidance protein gene DOID:14330 Parkinson's disease ISO RGD:1605526 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 11756941 DRAXIN dorsal inhibitory axon guidance protein gene DOID:630 genetic disease ISO RGD:1605526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11756941 DRAXIN dorsal inhibitory axon guidance protein gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1605526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 11756952 GATA1 GATA binding protein 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:10621 D RGD:9068941 20200609 RGD PMID:15572684|REF_RGD_ID:10450734 11756952 GATA1 GATA binding protein 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:10621 D RGD:9068941 20220825 MouseDO OMIM:614286 11756952 GATA1 GATA binding protein 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:731384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28963909 11756952 GATA1 GATA binding protein 1 gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:731384 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow PMID:17570514|REF_RGD_ID:10450752 11756952 GATA1 GATA binding protein 1 gene DOID:0050908 myelodysplastic syndrome severity ISO RGD:731384 D RGD:9068941 20200609 RGD PMID:12145700|REF_RGD_ID:10450753 11756952 GATA1 GATA binding protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11756952 GATA1 GATA binding protein 1 gene DOID:0060888 transient myeloproliferative syndrome ISO RGD:731384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transient myeloproliferative syndrome PMID:27993330 11756952 GATA1 GATA binding protein 1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:731384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 11756952 GATA1 GATA binding protein 1 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:731384 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome | ClinVar Annotator: match by term: Leukemia, megakaryoblastic, of Down syndrome PMID:12172547|PMID:16783379|PMID:22706301|PMID:23704091|PMID:24453067|PMID:27993330|PMID:28492532 11756952 GATA1 GATA binding protein 1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:731384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11756952 GATA1 GATA binding protein 1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:731384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11756952 GATA1 GATA binding protein 1 gene DOID:0111767 X-linked thrombocytopenia with beta-thalassemia ISO RGD:731384 D RGD:7240710 20180130 OMIM 11756952 GATA1 GATA binding protein 1 gene DOID:0111767 X-linked thrombocytopenia with beta-thalassemia ISO RGD:731384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Beta-thalassemia-X-linked thrombocytopenia syndrome | ClinVar Annotator: match by term: Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis PMID:11809723|PMID:12200364|PMID:14691578|PMID:17148589|PMID:17209061|PMID:17881640|PMID:19172521|PMID:20301538|PMID:23704091|PMID:25741868|PMID:28492532|PMID:871527 11756952 GATA1 GATA binding protein 1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:731384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11756952 GATA1 GATA binding protein 1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:731384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 11756952 GATA1 GATA binding protein 1 gene DOID:0112156 X-linked dyserythropoietic anemia ISO RGD:731384 D RGD:7240710 20180130 OMIM 11756952 GATA1 GATA binding protein 1 gene DOID:0112156 X-linked dyserythropoietic anemia ISO RGD:731384 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES PMID:11809723|PMID:12200364|PMID:14691578|PMID:15895080|PMID:16783379|PMID:17209061|PMID:17881640|PMID:19172521|PMID:20301538|PMID:20729467|PMID:22706301|PMID:23704091|PMID:24453067|PMID:24766296|PMID:24952648|PMID:25741868|PMID:28492532|PMID:29146883|PMID:871527 11756952 GATA1 GATA binding protein 1 gene DOID:12241 beta thalassemia treatment ISO RGD:731384 D RGD:9068941 20200609 RGD PMID:16696909|REF_RGD_ID:10450613 11756952 GATA1 GATA binding protein 1 gene DOID:12849 autistic disorder ISO RGD:731384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11756952 GATA1 GATA binding protein 1 gene DOID:1324 lung cancer ISO RGD:731384 D RGD:9068941 20210716 RGD mRNA:increased expression:regulatory T cell:lung associated T cell PMID:28814673|REF_RGD_ID:149735197 11756952 GATA1 GATA binding protein 1 gene DOID:13271 cutaneous porphyria ISO RGD:731384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous porphyria PMID:12200364|PMID:17148589|PMID:20301538 11756952 GATA1 GATA binding protein 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:731384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:11566888|PMID:11809723|PMID:12200364|PMID:14691578|PMID:15070711|PMID:15895080|PMID:15920471|PMID:16095949|PMID:16199547|PMID:16783379|PMID:17209061|PMID:17881640|PMID:19172521|PMID:20301538|PMID:20729467|PMID:22706301|PMID:23704091|PMID:24255919|PMID:24453067|PMID:24728327|PMID:24766296|PMID:24952648|PMID:25741868|PMID:27993330|PMID:28492532|PMID:29146883|PMID:3164080|PMID:35030251|PMID:8628290|PMID:871527 11756952 GATA1 GATA binding protein 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:731384 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:11809723|PMID:12200364|PMID:14691578|PMID:15895080|PMID:16783379|PMID:17209061|PMID:17881640|PMID:19172521|PMID:20301538|PMID:20729467|PMID:22706301|PMID:23704091|PMID:24453067|PMID:24766296|PMID:24952648|PMID:25741868|PMID:28492532|PMID:29146883|PMID:3164080|PMID:35030251|PMID:871527 11756952 GATA1 GATA binding protein 1 gene DOID:14250 Down syndrome ISO RGD:731384 D RGD:7240710 20180130 OMIM 11756952 GATA1 GATA binding protein 1 gene DOID:14250 Down syndrome ISO RGD:731384 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Complete trisomy 21 syndrome PMID:16783379|PMID:22706301|PMID:23704091|PMID:24453067|PMID:25741868|PMID:28492532 11756952 GATA1 GATA binding protein 1 gene DOID:1470 major depressive disorder ISO RGD:731384 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsolateral prefrontal cortex PMID:22885997|REF_RGD_ID:6892958 11756952 GATA1 GATA binding protein 1 gene DOID:1588 thrombocytopenia ISO RGD:731384 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:11418466|PMID:20301538|PMID:23278136|PMID:25741868|PMID:31064749|PMID:32581362|PMID:34355501 11756952 GATA1 GATA binding protein 1 gene DOID:1596 depressive disorder ISO RGD:10621 D RGD:9068941 20200609 RGD PMID:22885997|REF_RGD_ID:6892958 11756952 GATA1 GATA binding protein 1 gene DOID:1596 depressive disorder ISO RGD:2663 D RGD:9068941 20200609 RGD mRNA:increased expression:prefrontal cortex PMID:22885997|REF_RGD_ID:6892958 11756952 GATA1 GATA binding protein 1 gene DOID:1596 depressive disorder ISO RGD:731384 D RGD:9068941 20210716 RGD PMID:25340772|REF_RGD_ID:11049534 11756952 GATA1 GATA binding protein 1 gene DOID:234 colon adenocarcinoma ISO RGD:731384 D RGD:9068941 20210716 RGD PMID:31069596|REF_RGD_ID:149735196 11756952 GATA1 GATA binding protein 1 gene DOID:2355 anemia ISO RGD:731384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia PMID:32581362 11756952 GATA1 GATA binding protein 1 gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:731384 D RGD:9068941 20210716 RGD PMID:25230694|REF_RGD_ID:149735195 11756952 GATA1 GATA binding protein 1 gene DOID:4971 myelofibrosis ISO RGD:10621 D RGD:9068941 20220825 MouseDO OMIM:254450 11756952 GATA1 GATA binding protein 1 gene DOID:4971 myelofibrosis ISO RGD:731384 D RGD:9068941 20200609 RGD PMID:16127162|REF_RGD_ID:10450748 11756952 GATA1 GATA binding protein 1 gene DOID:630 genetic disease ISO RGD:731384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11756952 GATA1 GATA binding protein 1 gene DOID:8432 polycythemia ISO RGD:2663 D RGD:9068941 20210716 RGD mRNA,protein:increased expression:CD71 positive bone marrow cell PMID:27587253|REF_RGD_ID:149735329 11756952 GATA1 GATA binding protein 1 gene DOID:8692 myeloid leukemia ISO RGD:10621 D RGD:9068941 20200609 RGD PMID:23719302|REF_RGD_ID:10450751 11756952 GATA1 GATA binding protein 1 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:731384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia PMID:15070711|PMID:16783379|PMID:22706301|PMID:23704091|PMID:24453067|PMID:28492532 11756952 GATA1 GATA binding protein 1 gene DOID:9000557 Thrombocytopenia 1 ISO RGD:731384 D RGD:9068941 20200609 RGD associated with Beta-Thalassemia;DNA:missense mutation: :p.R216Q (human) PMID:12200364|REF_RGD_ID:10450747 11756952 GATA1 GATA binding protein 1 gene DOID:9000784 Fibrosis ISO RGD:10621 D RGD:9068941 20200609 RGD PMID:15665119|REF_RGD_ID:10450614 11756952 GATA1 GATA binding protein 1 gene DOID:9001937 Hemolytic Anemia due to Elevated Adenosine Deaminase ISO RGD:731384 D RGD:7240710 20220629 OMIM 11756952 GATA1 GATA binding protein 1 gene DOID:9001937 Hemolytic Anemia due to Elevated Adenosine Deaminase ISO RGD:731384 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Adenosine deaminase, elevated, hemolytic anemia due to PMID:28492532|PMID:3164080|PMID:35030251 11756952 GATA1 GATA binding protein 1 gene DOID:9003890 X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia ISO RGD:731384 D RGD:7240710 20180130 OMIM 11756952 GATA1 GATA binding protein 1 gene DOID:9003890 X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia ISO RGD:731384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GATA1-Related X-Linked Cytopenia | ClinVar Annotator: match by term: Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | ClinVar Annotator: match by term: Thrombocytopenia, X-linked, without dyserythropoietic anemia PMID:10700180|PMID:11418466|PMID:11809723|PMID:12200364|PMID:14691578|PMID:15895080|PMID:16783379|PMID:17148589|PMID:17209061|PMID:17881640|PMID:19172521|PMID:20301538|PMID:20729467|PMID:22706301|PMID:23278136|PMID:23704091|PMID:24453067|PMID:24766296|PMID:24952648|PMID:25741868|PMID:28492532|PMID:29146883|PMID:31064749|PMID:3164080|PMID:32581362|PMID:34355501|PMID:35030251|PMID:871527 11756952 GATA1 GATA binding protein 1 gene DOID:9005785 Altitude Sickness ISO RGD:731384 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:bone marrow, mononuclear cell PMID:18078130|REF_RGD_ID:10450750 11756952 GATA1 GATA binding protein 1 gene DOID:9006561 Familial Myelofibrosis ISO RGD:10621 D RGD:9068941 20200609 RGD PMID:12149188|REF_RGD_ID:10450737 11756952 GATA1 GATA binding protein 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:731384 D RGD:9068941 20200609 RGD PMID:7579412|REF_RGD_ID:10450754 11756952 GATA1 GATA binding protein 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:731384 D RGD:9068941 20210716 RGD PMID:31069596|REF_RGD_ID:149735196 11756968 LOC100978919 T-cell surface glycoprotein CD3 epsilon chain gene DOID:0060017 CD3epsilon deficiency ISO RGD:1319442 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11756968 LOC100978919 T-cell surface glycoprotein CD3 epsilon chain gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1319442 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11756968 LOC100978919 T-cell surface glycoprotein CD3 epsilon chain gene DOID:0080690 RASopathy ISO RGD:1319442 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11756968 LOC100978919 T-cell surface glycoprotein CD3 epsilon chain gene DOID:0081330 glycogen storage disease Ib ISO RGD:1319442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 11756968 LOC100978919 T-cell surface glycoprotein CD3 epsilon chain gene DOID:0110651 long QT syndrome 10 ISO RGD:1319442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11756968 LOC100978919 T-cell surface glycoprotein CD3 epsilon chain gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1319442 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11756968 LOC100978919 T-cell surface glycoprotein CD3 epsilon chain gene DOID:0111971 immunodeficiency 18 ISO RGD:1319442 D RGD:7240710 20180130 OMIM 11756968 LOC100978919 T-cell surface glycoprotein CD3 epsilon chain gene DOID:0111971 immunodeficiency 18 ISO RGD:1319442 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 | ClinVar Annotator: match by term: Immunodeficiency 18, scid variant PMID:1370449|PMID:14602880|PMID:15546002|PMID:16199547|PMID:1635567|PMID:1676369|PMID:17277165|PMID:17576681|PMID:24033266|PMID:24216686|PMID:24910257|PMID:25373860|PMID:25741868|PMID:26822028|PMID:28492532|PMID:8490660|PMID:9536098|PMID:9843989 11756968 LOC100978919 T-cell surface glycoprotein CD3 epsilon chain gene DOID:0111972 immunodeficiency 19 ISO RGD:1319442 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11756968 LOC100978919 T-cell surface glycoprotein CD3 epsilon chain gene DOID:0111973 immunodeficiency 17 ISO RGD:1319442 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11756968 LOC100978919 T-cell surface glycoprotein CD3 epsilon chain gene DOID:1059 intellectual disability ISO RGD:1319442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11756968 LOC100978919 T-cell surface glycoprotein CD3 epsilon chain gene DOID:2945 severe acute respiratory syndrome ISO RGD:1319442 D RGD:9068941 20200609 RGD protein:increased expression:Tcell, testis (human) PMID:16237152|REF_RGD_ID:27372876 11756968 LOC100978919 T-cell surface glycoprotein CD3 epsilon chain gene DOID:612 primary immunodeficiency disease ISO RGD:1319442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8490660 11756968 LOC100978919 T-cell surface glycoprotein CD3 epsilon chain gene DOID:627 severe combined immunodeficiency ISO RGD:1319442 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:25741868|PMID:28492532|PMID:33628209 11756968 LOC100978919 T-cell surface glycoprotein CD3 epsilon chain gene DOID:630 genetic disease ISO RGD:1319442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11756968 LOC100978919 T-cell surface glycoprotein CD3 epsilon chain gene DOID:7148 rheumatoid arthritis ISO RGD:1319442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 11756968 LOC100978919 T-cell surface glycoprotein CD3 epsilon chain gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1319442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11756968 LOC100978919 T-cell surface glycoprotein CD3 epsilon chain gene DOID:9005372 Inflammation ISO RGD:1319442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22325453 11756968 LOC100978919 T-cell surface glycoprotein CD3 epsilon chain gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1319443 D RGD:9068941 20200609 RGD PMID:16628253|REF_RGD_ID:2314179 11756968 LOC100978919 T-cell surface glycoprotein CD3 epsilon chain gene DOID:9007661 Dwarfism ISO RGD:1319442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11756968 LOC100978919 T-cell surface glycoprotein CD3 epsilon chain gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11756985 IRX3 iroquois homeobox 3 gene DOID:0050777 Joubert syndrome ISO RGD:1316613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:17558409|PMID:28492532 11756985 IRX3 iroquois homeobox 3 gene DOID:630 genetic disease ISO RGD:1316613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11756985 IRX3 iroquois homeobox 3 gene DOID:850 lung disease ISO RGD:1316613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21238641 11756995 TMPRSS3 transmembrane serine protease 3 gene DOID:0050563 nonsyndromic deafness ISO RGD:1320861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:11907649|PMID:12920079|PMID:21786053|PMID:24033266|PMID:24526180|PMID:25741868|PMID:26467025|PMID:28246597|PMID:28263784|PMID:28492532|PMID:28566687|PMID:28695016|PMID:29196752|PMID:30242206|PMID:30311386|PMID:31053783|PMID:31412945|PMID:34599368 11756995 TMPRSS3 transmembrane serine protease 3 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1320861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:11137999|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30303587|PMID:30311386|PMID:30622556|PMID:34868270 11756995 TMPRSS3 transmembrane serine protease 3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1320861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11756995 TMPRSS3 transmembrane serine protease 3 gene DOID:0110266 cataract 9 multiple types ISO RGD:1320861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11756995 TMPRSS3 transmembrane serine protease 3 gene DOID:0110527 autosomal recessive nonsyndromic deafness 8 ISO RGD:1320861 D RGD:7240710 20180130 OMIM 11756995 TMPRSS3 transmembrane serine protease 3 gene DOID:0110527 autosomal recessive nonsyndromic deafness 8 ISO RGD:1320861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 10 | ClinVar Annotator: match by term: Deafness, autosomal recessive 8 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 8 PMID:11137999|PMID:11424922|PMID:11462234|PMID:11907649|PMID:12393794|PMID:12920079|PMID:15447792|PMID:16021470|PMID:16283880|PMID:16460646|PMID:16524950|PMID:17551081|PMID:17576681|PMID:19170735|PMID:21534946|PMID:21786053|PMID:22382023|PMID:22975204|PMID:23208854|PMID:23958653|PMID:23967202|PMID:24033266|PMID:24416283|PMID:24526180|PMID:24657061|PMID:24853665|PMID:25262649|PMID:25474651|PMID:25741868|PMID:25770132|PMID:26036852|PMID:26346818|PMID:26408194|PMID:26467025|PMID:26969326|PMID:27344577|PMID:28246597|PMID:28263784|PMID:28492532|PMID:28566687|PMID:28695016|PMID:29196752|PMID:29293505|PMID:29431110|PMID:30242206|PMID:30303587|PMID:30311386|PMID:30622556|PMID:31045651|PMID:31053783|PMID:31152317|PMID:31412945|PMID:31589614|PMID:31980526|PMID:32235586|PMID:3285355|PMID:32853555|PMID:32860223|PMID:34599368|PMID:34868270|PMID:35802133|PMID:36633841|PMID:9536098 11756995 TMPRSS3 transmembrane serine protease 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1320861 D RGD:9068941 20200609 RGD DFNB10, OMIM:605316, DFNB8 OMIM:601072 PMID:11137999|REF_RGD_ID:1599443 11756995 TMPRSS3 transmembrane serine protease 3 gene DOID:10316 pneumoconiosis ISO RGD:1320861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 11756995 TMPRSS3 transmembrane serine protease 3 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1320861 D RGD:9068941 20200609 RGD PMID:14695172|REF_RGD_ID:2325152 11756995 TMPRSS3 transmembrane serine protease 3 gene DOID:630 genetic disease ISO RGD:1320861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11907649|PMID:15447792|PMID:16021470|PMID:16460646|PMID:19170735|PMID:21534946|PMID:21786053|PMID:24033266|PMID:25741868|PMID:26036852|PMID:26408194|PMID:26969326|PMID:28492532|PMID:28566687|PMID:29293505|PMID:30311386 11756995 TMPRSS3 transmembrane serine protease 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320861 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11756995 TMPRSS3 transmembrane serine protease 3 gene DOID:9004538 Hearing Loss ISO RGD:1320861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:11137999|PMID:11462234|PMID:11907649|PMID:15447792|PMID:16021470|PMID:16283880|PMID:16460646|PMID:17551081|PMID:19170735|PMID:21534946|PMID:21786053|PMID:22975204|PMID:23208854|PMID:23958653|PMID:23967202|PMID:24033266|PMID:24526180|PMID:25262649|PMID:25741868|PMID:26036852|PMID:26408194|PMID:26969326|PMID:28246597|PMID:28492532|PMID:28566687|PMID:28695016|PMID:29293505|PMID:29431110|PMID:30242206|PMID:30303587|PMID:30311386|PMID:30622556|PMID:31045651|PMID:31152317|PMID:31589614|PMID:31980526|PMID:34599368|PMID:34868270 11756995 TMPRSS3 transmembrane serine protease 3 gene DOID:9258 Waardenburg's syndrome ISO RGD:1320861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 11756995 TMPRSS3 transmembrane serine protease 3 gene DOID:9263 homocystinuria ISO RGD:1320861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11756995 TMPRSS3 transmembrane serine protease 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11757013 CCM2L CCM2 like scaffold protein gene DOID:630 genetic disease ISO RGD:1344204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757040 KRCC1 lysine rich coiled-coil 1 gene DOID:630 genetic disease ISO RGD:1605393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757049 BMAL2 basic helix-loop-helix ARNT like 2 gene DOID:0080600 COVID-19 ISO RGD:737603 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11757049 BMAL2 basic helix-loop-helix ARNT like 2 gene DOID:10763 hypertension ISO RGD:737603 D RGD:9068941 20200609 RGD DNA:SNPs: :rs6486121, rs3789327, rs969485(human) PMID:17728404|REF_RGD_ID:2314371 11757049 BMAL2 basic helix-loop-helix ARNT like 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 11757049 BMAL2 basic helix-loop-helix ARNT like 2 gene DOID:630 genetic disease ISO RGD:737603 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757049 BMAL2 basic helix-loop-helix ARNT like 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737603 D RGD:9068941 20200609 RGD DNA:SNPs: :rs7950226, rs11022775(human) PMID:17728404|REF_RGD_ID:2314371 11757049 BMAL2 basic helix-loop-helix ARNT like 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1551457 D RGD:9068941 20200609 RGD DNA:SNPs:exon:multiple PMID:16893914|REF_RGD_ID:2314359 11757081 DEFB112 defensin beta 112 gene DOID:630 genetic disease ISO RGD:1353566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757085 DTYMK deoxythymidylate kinase gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1320047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11757085 DTYMK deoxythymidylate kinase gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1320047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11757085 DTYMK deoxythymidylate kinase gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1320047 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11757085 DTYMK deoxythymidylate kinase gene DOID:1059 intellectual disability ISO RGD:1320047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11757085 DTYMK deoxythymidylate kinase gene DOID:630 genetic disease ISO RGD:1320047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757085 DTYMK deoxythymidylate kinase gene DOID:9000359 NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY ISO RGD:1320047 D RGD:7240710 20220629 OMIM 11757085 DTYMK deoxythymidylate kinase gene DOID:9000359 NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY ISO RGD:1320047 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with progressive microcephaly PMID:31271740|PMID:34918187|PMID:34926941 11757085 DTYMK deoxythymidylate kinase gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1320047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11757085 DTYMK deoxythymidylate kinase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1309614 D RGD:9068941 20200609 RGD protein:increased activity:tumor (rat) PMID:6244089|REF_RGD_ID:5133686 11757103 ZFAT zinc finger and AT-hook domain containing gene DOID:630 genetic disease ISO RGD:1322045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757103 ZFAT zinc finger and AT-hook domain containing gene DOID:7188 autoimmune thyroiditis ISO RGD:1322045 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3 PMID:11440990|PMID:15294872|PMID:25741868|PMID:28940097 11757103 ZFAT zinc finger and AT-hook domain containing gene DOID:7188 autoimmune thyroiditis susceptibility ISO RGD:1322045 D RGD:7240710 20190502 OMIM 11757126 CWF19L2 CWF19 like cell cycle control factor 2 gene DOID:1059 intellectual disability ISO RGD:1320784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11757126 CWF19L2 CWF19 like cell cycle control factor 2 gene DOID:12704 ataxia telangiectasia ISO RGD:1320784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11757126 CWF19L2 CWF19 like cell cycle control factor 2 gene DOID:630 genetic disease ISO RGD:1320784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757126 CWF19L2 CWF19 like cell cycle control factor 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1320784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11757152 RNASEH2C ribonuclease H2 subunit C gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1604574 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome PMID:16845400|PMID:17576681|PMID:17846997|PMID:19015152|PMID:19034401|PMID:20131292|PMID:23322642|PMID:25604658|PMID:25741868|PMID:28492532|PMID:29150899|PMID:29239743|PMID:31529068|PMID:34302356|PMID:9536098 11757152 RNASEH2C ribonuclease H2 subunit C gene DOID:1059 intellectual disability ISO RGD:1604574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11757152 RNASEH2C ribonuclease H2 subunit C gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11757152 RNASEH2C ribonuclease H2 subunit C gene DOID:2746 glycogen storage disease V ISO RGD:1604574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11757152 RNASEH2C ribonuclease H2 subunit C gene DOID:630 genetic disease ISO RGD:1604574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11757152 RNASEH2C ribonuclease H2 subunit C gene DOID:9000615 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES ISO RGD:1604574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities PMID:25741868|PMID:32822602 11757152 RNASEH2C ribonuclease H2 subunit C gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1604574 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11757152 RNASEH2C ribonuclease H2 subunit C gene DOID:9006534 Nervous System Malformations ISO RGD:1604574 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16845400|PMID:17846997|PMID:19015152|PMID:19034401|PMID:20131292|PMID:23322642|PMID:25604658|PMID:25741868|PMID:28492532|PMID:29150899|PMID:29239743|PMID:31529068|PMID:34302356 11757152 RNASEH2C ribonuclease H2 subunit C gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1604574 D RGD:7240710 20180130 OMIM 11757152 RNASEH2C ribonuclease H2 subunit C gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1604574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:16199547|PMID:16845400|PMID:17576681|PMID:17846997|PMID:19015152|PMID:19034401|PMID:20131292|PMID:23322642|PMID:25500883|PMID:25604658|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28600438|PMID:29150899|PMID:29239743|PMID:29389947|PMID:30315573|PMID:31130681|PMID:31529068|PMID:32404165|PMID:34008892|PMID:34055681|PMID:34302356|PMID:9536098 11757164 ATF4 activating transcription factor 4 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:733712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11757164 ATF4 activating transcription factor 4 gene DOID:0060478 Zika fever ISO RGD:733713 D RGD:9068941 20200702 RGD mRNA:increased expression:brain PMID:30241539|REF_RGD_ID:32733625 11757164 ATF4 activating transcription factor 4 gene DOID:10286 prostate carcinoma treatment ISO RGD:733712 D RGD:9068941 20200609 RGD PMID:25680860|REF_RGD_ID:13504680 11757164 ATF4 activating transcription factor 4 gene DOID:11132 prostatic hypertrophy ISO RGD:733713 D RGD:9068941 20200609 RGD PMID:28988820|REF_RGD_ID:13504679 11757164 ATF4 activating transcription factor 4 gene DOID:3008 invasive ductal carcinoma ISO RGD:733712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14604972 11757164 ATF4 activating transcription factor 4 gene DOID:5154 borna disease ISO RGD:621863 D RGD:9068941 20200702 RGD protein:increased expression:cerebellum PMID:16912310|REF_RGD_ID:32733622 11757164 ATF4 activating transcription factor 4 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:621863 D RGD:9068941 20200903 RGD protein:increased expression:lung PMID:32209028|REF_RGD_ID:38549370 11757164 ATF4 activating transcription factor 4 gene DOID:630 genetic disease ISO RGD:733712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757164 ATF4 activating transcription factor 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:733712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 11757164 ATF4 activating transcription factor 4 gene DOID:9002669 Hypoxia ISO RGD:733712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14604972 11757164 ATF4 activating transcription factor 4 gene DOID:9005749 Necrosis ISO RGD:733712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14604972 11757164 ATF4 activating transcription factor 4 gene DOID:9452 fatty liver disease ISO RGD:733712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27664470 11757172 PNISR PNN interacting serine and arginine rich protein gene DOID:630 genetic disease ISO RGD:1316570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757188 CCDC77 coiled-coil domain containing 77 gene DOID:630 genetic disease ISO RGD:1601842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757188 CCDC77 coiled-coil domain containing 77 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1601842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11757206 NGB neuroglobin gene DOID:10652 Alzheimer's disease treatment ISO RGD:621461 D RGD:9068941 20200609 RGD PMID:23428737|REF_RGD_ID:9743955 11757206 NGB neuroglobin gene DOID:12510 retinal ischemia ISO RGD:621461 D RGD:9068941 20200609 RGD associated with Ocular Hypertension;protein:increased expression:retina PMID:22553688|REF_RGD_ID:9854634 11757206 NGB neuroglobin gene DOID:224 transient cerebral ischemia ISO RGD:621461 D RGD:9068941 20200609 RGD PMID:12621155|REF_RGD_ID:9743964 11757206 NGB neuroglobin gene DOID:224 transient cerebral ischemia ISO RGD:621461 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA, protein:decreased expression:brain PMID:16647691|REF_RGD_ID:9743952 11757206 NGB neuroglobin gene DOID:224 transient cerebral ischemia treatment ISO RGD:1553611 D RGD:9068941 20200609 RGD PMID:12621155|REF_RGD_ID:9743964 11757206 NGB neuroglobin gene DOID:224 transient cerebral ischemia treatment ISO RGD:621461 D RGD:9068941 20200609 RGD PMID:23342777|REF_RGD_ID:9743965 11757206 NGB neuroglobin gene DOID:630 genetic disease ISO RGD:1352460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757206 NGB neuroglobin gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:621461 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:24281943|REF_RGD_ID:9743950 11757206 NGB neuroglobin gene DOID:9000998 Brain Injuries severity ISO RGD:621461 D RGD:9068941 20200609 RGD PMID:21915648|REF_RGD_ID:9743963 11757206 NGB neuroglobin gene DOID:9001196 Nervous System Heredodegenerative Disorders ISO RGD:1352460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16825958 11757206 NGB neuroglobin gene DOID:9007980 Sleep Deprivation ISO RGD:621461 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:23262504|REF_RGD_ID:9743966 11757206 NGB neuroglobin gene DOID:9588 encephalitis ISO RGD:621461 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid, frontal cortex, serum PMID:19842562|REF_RGD_ID:9743961 11757220 ZNF503 zinc finger protein 503 gene DOID:630 genetic disease ISO RGD:1323782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757220 ZNF503 zinc finger protein 503 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1323782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:22077973|PMID:23436491|PMID:25424711|PMID:27880066|PMID:28492532 11757226 PATZ1 POZ/BTB and AT hook containing zinc finger 1 gene DOID:3070 high grade glioma ISO RGD:1318048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11757226 PATZ1 POZ/BTB and AT hook containing zinc finger 1 gene DOID:630 genetic disease ISO RGD:1318048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757275 LMAN2 lectin, mannose binding 2 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11757275 LMAN2 lectin, mannose binding 2 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1319046 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11757275 LMAN2 lectin, mannose binding 2 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1319046 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 11757275 LMAN2 lectin, mannose binding 2 gene DOID:630 genetic disease ISO RGD:1319046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757275 LMAN2 lectin, mannose binding 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1319046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11757275 LMAN2 lectin, mannose binding 2 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1319046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 11757287 GAD2 glutamate decarboxylase 2 gene DOID:11714 gestational diabetes ISO RGD:733945 D RGD:9068941 20200609 RGD PMID:18588707|REF_RGD_ID:2313295 11757287 GAD2 glutamate decarboxylase 2 gene DOID:11832 visual epilepsy susceptibility ISO RGD:10616 D RGD:9068941 20200609 RGD PMID:8954991|REF_RGD_ID:1302511 11757287 GAD2 glutamate decarboxylase 2 gene DOID:1470 major depressive disorder ISO RGD:733945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15560956 11757287 GAD2 glutamate decarboxylase 2 gene DOID:1826 epilepsy ISO RGD:10616 D RGD:9068941 20220825 MouseDO 11757287 GAD2 glutamate decarboxylase 2 gene DOID:3312 bipolar disorder ISO RGD:733945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15560956 11757287 GAD2 glutamate decarboxylase 2 gene DOID:5419 schizophrenia ISO RGD:733945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15560956|PMID:18923069 11757287 GAD2 glutamate decarboxylase 2 gene DOID:5419 schizophrenia ISO RGD:733945 D RGD:9068941 20200609 RGD protein:increased expression:posterior subiculum, parahippocampal gyrus PMID:21250934|REF_RGD_ID:6480427 11757287 GAD2 glutamate decarboxylase 2 gene DOID:630 genetic disease ISO RGD:733945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757287 GAD2 glutamate decarboxylase 2 gene DOID:8947 diabetic retinopathy ISO RGD:733945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21412422 11757287 GAD2 glutamate decarboxylase 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:733945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 11757287 GAD2 glutamate decarboxylase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:10616 D RGD:9068941 20200609 RGD PMID:19188044|REF_RGD_ID:2313292 11757287 GAD2 glutamate decarboxylase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:10616 D RGD:9068941 20220825 MouseDO OMIM:222100 11757287 GAD2 glutamate decarboxylase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:733945 D RGD:9068941 20200609 RGD PMID:19085183|REF_RGD_ID:2313294 11757287 GAD2 glutamate decarboxylase 2 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:10616 D RGD:9068941 20200609 RGD PMID:18005036|REF_RGD_ID:2313296 11757287 GAD2 glutamate decarboxylase 2 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:733945 D RGD:9068941 20200609 RGD PMID:19741189|REF_RGD_ID:2313289 11757307 PPAT phosphoribosyl pyrophosphate amidotransferase gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:733613 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 11757307 PPAT phosphoribosyl pyrophosphate amidotransferase gene DOID:4450 renal cell carcinoma ISO RGD:620237 D RGD:9068941 20200609 RGD protein:increased activity:tumor (rat) PMID:476627|REF_RGD_ID:5135050 11757307 PPAT phosphoribosyl pyrophosphate amidotransferase gene DOID:630 genetic disease ISO RGD:733613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757307 PPAT phosphoribosyl pyrophosphate amidotransferase gene DOID:684 hepatocellular carcinoma ISO RGD:620237 D RGD:9068941 20200609 RGD protein:increased activity:hepatoma (rat) PMID:6327016|REF_RGD_ID:5135035 11757307 PPAT phosphoribosyl pyrophosphate amidotransferase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:733613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:761203 11757307 PPAT phosphoribosyl pyrophosphate amidotransferase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620237 D RGD:9068941 20200609 RGD protein:increased activity:kidney (rat) PMID:2451505|REF_RGD_ID:5135016 11757307 PPAT phosphoribosyl pyrophosphate amidotransferase gene DOID:9007102 Myocardial Ischemia ISO RGD:733613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11757322 C1RL complement C1r subcomponent like gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1346889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11757322 C1RL complement C1r subcomponent like gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1346889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11757322 C1RL complement C1r subcomponent like gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1346889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11757322 C1RL complement C1r subcomponent like gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1346889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11757322 C1RL complement C1r subcomponent like gene DOID:0111621 Temtamy syndrome ISO RGD:1346889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11757322 C1RL complement C1r subcomponent like gene DOID:630 genetic disease ISO RGD:1346889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757322 C1RL complement C1r subcomponent like gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1346889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11757341 ARSF arylsulfatase F gene DOID:0060041 autism spectrum disorder ISO RGD:1344739 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11757341 ARSF arylsulfatase F gene DOID:12849 autistic disorder ISO RGD:1344739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11757341 ARSF arylsulfatase F gene DOID:630 genetic disease ISO RGD:1344739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757341 ARSF arylsulfatase F gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11757362 ZNF785 zinc finger protein 785 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1602069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11757362 ZNF785 zinc finger protein 785 gene DOID:630 genetic disease ISO RGD:1602069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757385 MTRNR2L8 MT-RNR2 like 8 gene DOID:630 genetic disease ISO RGD:4105537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757406 FER1L6 fer-1 like family member 6 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1625099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11757406 FER1L6 fer-1 like family member 6 gene DOID:630 genetic disease ISO RGD:1625099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:0050700 cardiomyopathy ISO RGD:732177 D RGD:9068941 20220825 MouseDO 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue ISO RGD:732176 D RGD:9068941 20220428 RGD protein:increased expression: mucosa-associated lymphoid tissue (human) PMID:27544389|REF_RGD_ID:152023632 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:0060284 paroxysmal nocturnal hemoglobinuria treatment ISO RGD:732176 D RGD:9068941 20200609 RGD PMID:22206707|REF_RGD_ID:11352266 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:0060591 WHIM syndrome 1 ISO RGD:732176 D RGD:7240710 20180130 OMIM 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:0060591 WHIM syndrome 1 ISO RGD:732176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: WHIM syndrome 1 | ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:12692554|PMID:15026312|PMID:15536153|PMID:16275383|PMID:16899028|PMID:17803866|PMID:18436740|PMID:19043667|PMID:19476565|PMID:19956569|PMID:20472031|PMID:20736454|PMID:21070597|PMID:22748845|PMID:23009155|PMID:23794067|PMID:25571909|PMID:25662009|PMID:25741868|PMID:28353164|PMID:28492532|PMID:29659363|PMID:30819232|PMID:31313072|PMID:31493092 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:0060901 lymphoplasmacytic lymphoma disease_progression ISO RGD:732176 D RGD:9068941 20200609 RGD DNA:mutation:cds:1013C>G(p.S338X)(human) PMID:24711662|REF_RGD_ID:11352304 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:0080199 colorectal carcinoma disease_progression ISO RGD:732176 D RGD:9068941 20220422 RGD mRNA,protein:increased expression:colorectum (human) PMID:18803056|REF_RGD_ID:151893518 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:0080600 COVID-19 ISO RGD:732176 D RGD:9068941 20200709 RGD mRNA:decreased expression:memory B cells (human) PMID:32377375|REF_RGD_ID:32716422 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:0111974 immunodeficiency 59 ISO RGD:732176 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality PMID:25741868 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:10283 prostate cancer ameliorates ISO RGD:732176 D RGD:9068941 20220429 RGD human cells in mouse model PMID:30537000|REF_RGD_ID:152025215 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:10534 stomach cancer ameliorates ISO RGD:732176 D RGD:9068941 20220428 RGD human cells in mouse model PMID:27007162|REF_RGD_ID:152023648 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:10534 stomach cancer disease_progression ISO RGD:732176 D RGD:9068941 20220318 RGD human cells in mouse model PMID:28544312|REF_RGD_ID:151665321 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:10534 stomach cancer disease_progression ISO RGD:732176 D RGD:9068941 20220422 RGD mRNA:increased expression:stomach (human) PMID:21633638|REF_RGD_ID:152023624 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:10534 stomach cancer exacerbates ISO RGD:732176 D RGD:9068941 20220428 RGD protein:increased expression:stomach (human) PMID:19148483|PMID:25368239|REF_RGD_ID:152023608|REF_RGD_ID:152023660 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:11476 osteoporosis ISO RGD:732176 D RGD:9068941 20200609 RGD PMID:29882473|REF_RGD_ID:14700776 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:11664 nephrosclerosis ISO RGD:732176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:1993 rectum cancer exacerbates ISO RGD:732176 D RGD:9068941 20220422 RGD protein:increased expression:rectum (human) PMID:24375277|REF_RGD_ID:152023614 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:2596 larynx cancer exacerbates ISO RGD:732176 D RGD:9068941 20220512 RGD protein:increased expression: mucosa of larynx (human) PMID:23259294|REF_RGD_ID:152177474 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:2600 laryngeal carcinoma disease_progression ISO RGD:732176 D RGD:9068941 20220506 RGD protein:increased expression:larynx (human) PMID:16494043|REF_RGD_ID:152025548 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:3328 temporal lobe epilepsy ISO RGD:620465 D RGD:9068941 20200609 RGD PMID:28104461|REF_RGD_ID:13463105 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:3347 osteosarcoma ameliorates ISO RGD:732176 D RGD:9068941 20220506 RGD human cells in mouse model PMID:31571016|REF_RGD_ID:152025557 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:732176 D RGD:9068941 20220428 RGD protein:increased expression:esophagus squamous epithelium (human) PMID:17171785|REF_RGD_ID:152023646 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:3753 Hermansky-Pudlak syndrome disease_progression ISO RGD:732176 D RGD:9068941 20200609 RGD PMID:25347450|REF_RGD_ID:11352293 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:732176 D RGD:9068941 20220428 RGD protein:increased expression:lung (human) PMID:22977534|REF_RGD_ID:152023747 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:732176 D RGD:9068941 20220428 RGD protein:increased expression:lung (human) PMID:30103827|REF_RGD_ID:152023735 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:732176 D RGD:9068941 20220512 RGD mRNA:increased expression:lung (human) PMID:19716197|REF_RGD_ID:152177480 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:732176 D RGD:9068941 20200609 RGD PMID:21448932|REF_RGD_ID:11352272 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:732176 D RGD:9068941 20230128 RGD mRNA:increased expression:kidney: PMID:29218250|REF_RGD_ID:155804290 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:4531 mucoepidermoid carcinoma disease_progression ISO RGD:732176 D RGD:9068941 20220422 RGD protein:increased expression:saliva-secreting gland (human) PMID:28772134|REF_RGD_ID:152023620 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:5241 hemangioblastoma ISO RGD:732176 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:temporal lobe : PMID:27388534|REF_RGD_ID:155641257 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:5603 T-cell acute lymphoblastic leukemia treatment ISO RGD:732176 D RGD:9068941 20200609 RGD PMID:26931577|REF_RGD_ID:11352292 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:6000 congestive heart failure ISO RGD:732177 D RGD:9068941 20220825 MouseDO 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:612 primary immunodeficiency disease ISO RGD:732176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:615 leukopenia treatment ISO RGD:732176 D RGD:9068941 20200609 RGD associated with WHIM Syndrome; DNA:nonsense mutation: cds:p.R334X(human) PMID:21890643|REF_RGD_ID:6480654 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:630 genetic disease ISO RGD:732176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:6432 pulmonary hypertension treatment ISO RGD:620465 D RGD:9068941 20200723 RGD PMID:21294880|REF_RGD_ID:6480473 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:732176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504|PMID:26387944 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:684 hepatocellular carcinoma severity ISO RGD:732176 D RGD:9068941 20220318 RGD protein:increased expression:liver (human) PMID:30034941|REF_RGD_ID:151665331 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:732176 D RGD:9068941 20220318 RGD human cells in mouse model PMID:33574707|REF_RGD_ID:151665327 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:7148 rheumatoid arthritis ISO RGD:732176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:8577 ulcerative colitis ISO RGD:732176 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood immature plasma cells PMID:21087446|REF_RGD_ID:6480657 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9000081 Lymphatic Metastasis ISO RGD:732176 D RGD:9068941 20220422 RGD associated with nasopharynx carcinoma; protein:increased expression:lymph node (human) PMID:16000558|REF_RGD_ID:151893515 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21312072|PMID:23743303 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732176 D RGD:9068941 20220512 RGD associated with Otorhinolaryngologic Neoplasms;mRNA,protein:increased expression:Laryngeal and hypopharyngeal tissue (human) PMID:18487224|REF_RGD_ID:152177478 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732176 D RGD:9068941 20220512 RGD associated with lung non-small cell carcinoma; protein:increased expression:lung (human) PMID:28000861|REF_RGD_ID:152177476 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732176 D RGD:9068941 20220512 RGD associated with lung non-small cell carcinoma;mRNA,protein:increased expression:lung (human) PMID:16322285|REF_RGD_ID:152177479 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:732176 D RGD:9068941 20220428 RGD associated with lung cancer; human cells in mouse model PMID:32037613|REF_RGD_ID:151708730 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:732176 D RGD:9068941 20220428 RGD human cells in mouse model;associated with lung cancer PMID:25504108|REF_RGD_ID:152023741 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:732176 D RGD:9068941 20220512 RGD associated with oral squamous cell carcinoma PMID:17634424|REF_RGD_ID:152177475 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:732177 D RGD:9068941 20220506 RGD associated with pancreatic cancer PMID:16230077|REF_RGD_ID:152025556 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:732176 D RGD:9068941 20220428 RGD associated with lung non-small cell carcinoma; protein:increased expression:lung (human) PMID:24932250|REF_RGD_ID:152023745 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis severity ISO RGD:732176 D RGD:9068941 20220428 RGD associated with osteosarcoma;protein:increased expression:bone (human) PMID:26546437|REF_RGD_ID:152023746 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9001004 Chronic Periodontitis ISO RGD:732176 D RGD:9068941 20200609 RGD mRNA:increased expression:gingival tissues PMID:21382035|REF_RGD_ID:6480655 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9002138 Spinal Cord Reperfusion Injury ISO RGD:620465 D RGD:9068941 20200609 RGD PMID:27760212|REF_RGD_ID:12910551 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9002211 Hyperalgesia ISO RGD:620465 D RGD:9068941 20200609 RGD PMID:28638088|REF_RGD_ID:13838657 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9002211 Hyperalgesia treatment ISO RGD:620465 D RGD:9068941 20200609 RGD PMID:30142543|REF_RGD_ID:13838658 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:620465 D RGD:9068941 20200609 RGD PMID:24955809|REF_RGD_ID:11352686 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25753200 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9004771 Vascular Remodeling treatment ISO RGD:620465 D RGD:9068941 20210820 RGD PMID:21294880|REF_RGD_ID:6480473 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor severity ISO RGD:732176 D RGD:9068941 20220422 RGD protein:increased expression:colon (human) PMID:26259237|REF_RGD_ID:11530617 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9005968 Neuralgia ISO RGD:732176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17292584 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:620465 D RGD:9068941 20210820 RGD PMID:21294880|REF_RGD_ID:6480473 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:620465 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:29073721|REF_RGD_ID:13825150 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9006618 Liver Metastasis ameliorates ISO RGD:732176 D RGD:9068941 20220421 RGD associated with colorectal cancer; human cells in mouse model PMID:30789971|REF_RGD_ID:151893289 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9006618 Liver Metastasis ameliorates ISO RGD:732176 D RGD:9068941 20220428 RGD human cells in mouse model; associated with colorectal cancer PMID:29436696|REF_RGD_ID:152023643 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9006796 Gastrointestinal Neoplasms ameliorates ISO RGD:732176 D RGD:9068941 20220428 RGD PMID:15994964|REF_RGD_ID:152023654 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9007482 Bone Metastasis disease_progression ISO RGD:732176 D RGD:9068941 20220428 RGD associated with hepatocellular carcinoma;protein:increased expression:liver (human) PMID:19508713|REF_RGD_ID:152023653 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23743303 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9008104 Cancer Pain ISO RGD:620465 D RGD:9068941 20200609 RGD PMID:28638088|REF_RGD_ID:13838657 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9008104 Cancer Pain ISO RGD:620465 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal cord: PMID:28108674|REF_RGD_ID:13463594 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9008763 Femoral Fractures ISO RGD:620465 D RGD:9068941 20200609 RGD PMID:25181476|REF_RGD_ID:11352664 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9008939 Breast Neoplasms ISO RGD:732176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25753200 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9009121 lung metastasis ameliorates ISO RGD:732176 D RGD:9068941 20220421 RGD associated with colorectal cancer; human cells in mouse model PMID:31938138|REF_RGD_ID:151665329 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9009121 lung metastasis ameliorates ISO RGD:732176 D RGD:9068941 20220422 RGD associated with nasopharynx carcinoma; human cells in mouse model PMID:16000558|REF_RGD_ID:151893515 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9009121 lung metastasis ameliorates ISO RGD:732177 D RGD:9068941 20220428 RGD PMID:26498029|REF_RGD_ID:152023752 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9009121 lung metastasis ameliorates ISO RGD:732177 D RGD:9068941 20220512 RGD associated with osteosarcoma and melanoma PMID:18071913|REF_RGD_ID:152177473 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:732176 D RGD:9068941 20200609 RGD PMID:24035716|REF_RGD_ID:11352273 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:732176 D RGD:9068941 20200609 RGD PMID:26031918|REF_RGD_ID:11352265 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9256 colorectal cancer ISO RGD:732176 D RGD:9068941 20220318 RGD mRNA:increased expression:colonic epithelium (human) PMID:32110952|REF_RGD_ID:151665323 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9256 colorectal cancer ISO RGD:732176 D RGD:9068941 20220415 RGD human cells in mouse model; protein:increased expression:colorectum (human) PMID:29481800|REF_RGD_ID:151708721 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9256 colorectal cancer ameliorates ISO RGD:732176 D RGD:9068941 20220422 RGD human cells in mouse model PMID:33617803|REF_RGD_ID:151893498 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9256 colorectal cancer disease_progression ISO RGD:732176 D RGD:9068941 20220421 RGD mRNA:increased expression:colorectum (human) PMID:28739729|PMID:33429333|REF_RGD_ID:151665332|REF_RGD_ID:151709000 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9256 colorectal cancer disease_progression ISO RGD:732176 D RGD:9068941 20220421 RGD protein:increased expression:blood serum (human) PMID:27330310|REF_RGD_ID:151708720 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9256 colorectal cancer exacerbates ISO RGD:732176 D RGD:9068941 20220421 RGD mRNA,protein:increased expression:colon (human) PMID:29719205|REF_RGD_ID:151893497 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9256 colorectal cancer severity ISO RGD:732176 D RGD:9068941 20220415 RGD protein:increased expression:colorectum (human) PMID:28515923|REF_RGD_ID:151708726 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9256 colorectal cancer severity ISO RGD:732176 D RGD:9068941 20220428 RGD mRNA:increased expression:colon (human) PMID:15837989|REF_RGD_ID:152023657 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:732176 D RGD:9068941 20220428 RGD mRNA:increased expression:nasopharynx (human) PMID:26611644|REF_RGD_ID:152023644 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9261 nasopharynx carcinoma exacerbates ISO RGD:732176 D RGD:9068941 20220512 RGD protein:increased expression:nasopharynx (human) PMID:15978137|REF_RGD_ID:152177484 11757451 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9970 obesity ISO RGD:732177 D RGD:9068941 20200609 RGD PMID:25016030|REF_RGD_ID:13673852 11757457 MSRB1 methionine sulfoxide reductase B1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1312916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 11757457 MSRB1 methionine sulfoxide reductase B1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1312916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11757457 MSRB1 methionine sulfoxide reductase B1 gene DOID:1826 epilepsy ISO RGD:1312916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11757457 MSRB1 methionine sulfoxide reductase B1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1312916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11757457 MSRB1 methionine sulfoxide reductase B1 gene DOID:630 genetic disease ISO RGD:1312916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757470 SOX17 SRY-box transcription factor 17 gene DOID:13608 biliary atresia ISO RGD:1313359 D RGD:9068941 20220825 MouseDO 11757470 SOX17 SRY-box transcription factor 17 gene DOID:4947 cholangiocarcinoma severity ISO RGD:1305371 D RGD:9068941 20200609 RGD PMID:20816680|REF_RGD_ID:4889598 11757470 SOX17 SRY-box transcription factor 17 gene DOID:630 genetic disease ISO RGD:1313358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757470 SOX17 SRY-box transcription factor 17 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1313358 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension 11757470 SOX17 SRY-box transcription factor 17 gene DOID:9004716 Vesicoureteral Reflux 3 ISO RGD:1313358 D RGD:7240710 20180130 OMIM 11757470 SOX17 SRY-box transcription factor 17 gene DOID:9004716 Vesicoureteral Reflux 3 ISO RGD:1313358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vesicoureteral reflux 3 PMID:20960469|PMID:25741868|PMID:28492532|PMID:28566479 11757470 SOX17 SRY-box transcription factor 17 gene DOID:9007337 Teratogenesis ISO RGD:1313358 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24154490 11757470 SOX17 SRY-box transcription factor 17 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313358 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18413743 11757470 SOX17 SRY-box transcription factor 17 gene DOID:9620 vesicoureteral reflux ISO RGD:1313358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vesicoureteral reflux PMID:25741868 11757476 XPO1 exportin 1 gene DOID:0060224 atrial fibrillation ISO RGD:735365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 11757476 XPO1 exportin 1 gene DOID:0080199 colorectal carcinoma disease_progression ISO RGD:735365 D RGD:9068941 20220407 RGD protein:increased expression:colorectum (human) PMID:31870117|REF_RGD_ID:151665794 11757476 XPO1 exportin 1 gene DOID:0080485 peroxisome biogenesis disorder 11A ISO RGD:735365 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) PMID:28492532 11757476 XPO1 exportin 1 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:735365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:26619011 11757476 XPO1 exportin 1 gene DOID:10534 stomach cancer ameliorates ISO RGD:735365 D RGD:9068941 20220407 RGD protein:increased expression:stomach (human) PMID:31569391|REF_RGD_ID:151665793 11757476 XPO1 exportin 1 gene DOID:10534 stomach cancer exacerbates ISO RGD:735365 D RGD:9068941 20220408 RGD protein:increased expression:stomach (human) PMID:27714846|REF_RGD_ID:151667434 11757476 XPO1 exportin 1 gene DOID:13938 amenorrhea ISO RGD:735365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11757476 XPO1 exportin 1 gene DOID:1793 pancreatic cancer exacerbates ISO RGD:735365 D RGD:9068941 20220407 RGD protein:increased expression:pancreas (human) PMID:20003838|REF_RGD_ID:151665797 11757476 XPO1 exportin 1 gene DOID:1826 epilepsy ISO RGD:735365 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11757476 XPO1 exportin 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:735365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:26619011 11757476 XPO1 exportin 1 gene DOID:363 uterine cancer ISO RGD:735365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:26619011 11757476 XPO1 exportin 1 gene DOID:3717 gastric adenocarcinoma ameliorates ISO RGD:735365 D RGD:9068941 20220407 RGD human cell line in a mouse model PMID:30115935|REF_RGD_ID:151665802 11757476 XPO1 exportin 1 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:735365 D RGD:9068941 20220408 RGD protein:decreased expression:stomach (human) PMID:28373767|REF_RGD_ID:151667432 11757476 XPO1 exportin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:735365 D RGD:9068941 20220408 RGD mRNA, protein:increased expression:epithelium of esophagus (human) PMID:24898882|REF_RGD_ID:151667431 11757476 XPO1 exportin 1 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:735365 D RGD:9068941 20220408 RGD protein:increased expression:esophagus (human) PMID:25148895|REF_RGD_ID:151667436 11757476 XPO1 exportin 1 gene DOID:3905 lung carcinoma ameliorates ISO RGD:732925 D RGD:9068941 20220408 RGD human cell line in a mouse model PMID:25629636|REF_RGD_ID:11058563 11757476 XPO1 exportin 1 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:735365 D RGD:9068941 20220407 RGD human cell line in a mouse model PMID:31113936|REF_RGD_ID:151665798 11757476 XPO1 exportin 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:735365 D RGD:9068941 20220408 RGD human cell line in a mouse model PMID:24946002|REF_RGD_ID:151667438 11757476 XPO1 exportin 1 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:735365 D RGD:9068941 20220407 RGD circRNA:increased expression:lung (human) PMID:33268793|REF_RGD_ID:151665799 11757476 XPO1 exportin 1 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:735365 D RGD:9068941 20220407 RGD mRNA:increased expression:lung (human) PMID:23639940|REF_RGD_ID:151665801 11757476 XPO1 exportin 1 gene DOID:4682 extrahepatic bile duct carcinoma disease_progression ISO RGD:735365 D RGD:9068941 20220407 RGD protein:increased expression:extrahepatic bile duct (human) PMID:27279267|REF_RGD_ID:151665800 11757476 XPO1 exportin 1 gene DOID:5419 schizophrenia ISO RGD:735365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11757476 XPO1 exportin 1 gene DOID:5517 stomach carcinoma exacerbates ISO RGD:735365 D RGD:9068941 20220408 RGD protein:increased expression:stomach (human) PMID:24026662|REF_RGD_ID:151667437 11757476 XPO1 exportin 1 gene DOID:630 genetic disease ISO RGD:735365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757476 XPO1 exportin 1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:735365 D RGD:9068941 20220407 RGD human cell line in a mouse model PMID:25030088|REF_RGD_ID:151665796 11757476 XPO1 exportin 1 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:735365 D RGD:9068941 20220408 RGD mRNA:increased expression:liver (human) PMID:31371628|REF_RGD_ID:151667441 11757476 XPO1 exportin 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:620517 D RGD:9068941 20220408 RGD PMID:27013579|REF_RGD_ID:151667433 11757476 XPO1 exportin 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:735365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:26619011 11757476 XPO1 exportin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11757476 XPO1 exportin 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:735365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:26619011 11757476 XPO1 exportin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:26619011 11757476 XPO1 exportin 1 gene DOID:9256 colorectal cancer ameliorates ISO RGD:735365 D RGD:9068941 20220408 RGD human cell line in a mouse model PMID:26603256|PMID:33745946|REF_RGD_ID:151665795|REF_RGD_ID:151667439 11757516 TINAGL1 tubulointerstitial nephritis antigen like 1 gene DOID:630 genetic disease ISO RGD:1352792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757538 C20H20orf141 chromosome 20 C20orf141 homolog gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1347173 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11757538 C20H20orf141 chromosome 20 C20orf141 homolog gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1347173 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11757538 C20H20orf141 chromosome 20 C20orf141 homolog gene DOID:630 genetic disease ISO RGD:1347173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757545 MIER2 MIER family member 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1316379 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11757545 MIER2 MIER family member 2 gene DOID:630 genetic disease ISO RGD:1316379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757545 MIER2 MIER family member 2 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1316379 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11757574 CIAO2A cytosolic iron-sulfur assembly component 2A gene DOID:0110935 nemaline myopathy 6 ISO RGD:1602086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11757574 CIAO2A cytosolic iron-sulfur assembly component 2A gene DOID:2717 Bloom syndrome ISO RGD:1602086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11757574 CIAO2A cytosolic iron-sulfur assembly component 2A gene DOID:630 genetic disease ISO RGD:1602086 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757574 CIAO2A cytosolic iron-sulfur assembly component 2A gene DOID:9256 colorectal cancer ISO RGD:1602086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11757589 AHCY adenosylhomocysteinase gene DOID:0050544 hypermethioninemia ISO RGD:731745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypermethioninemia PMID:25741868 11757589 AHCY adenosylhomocysteinase gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:731745 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29127188 11757589 AHCY adenosylhomocysteinase gene DOID:0111039 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ISO RGD:731745 D RGD:7240710 20180130 OMIM 11757589 AHCY adenosylhomocysteinase gene DOID:0111039 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ISO RGD:731745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase PMID:15024124|PMID:16736098|PMID:16872278|PMID:17576681|PMID:18211827|PMID:19177456|PMID:19619139|PMID:20385918|PMID:20852937|PMID:22959829|PMID:24033266|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132|PMID:28779239|PMID:29205322|PMID:33072517|PMID:9536098 11757589 AHCY adenosylhomocysteinase gene DOID:10763 hypertension ISO RGD:736014 D RGD:9068941 20200609 RGD associated with hyperhomocysteinemia PMID:16815886|REF_RGD_ID:1601153 11757589 AHCY adenosylhomocysteinase gene DOID:2843 long QT syndrome ISO RGD:731745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11757589 AHCY adenosylhomocysteinase gene DOID:3910 lung adenocarcinoma ISO RGD:731745 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11757589 AHCY adenosylhomocysteinase gene DOID:630 genetic disease ISO RGD:731745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15024124|PMID:16736098|PMID:16872278|PMID:18211827|PMID:19177456|PMID:20385918|PMID:20852937|PMID:22959829|PMID:24033266|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132|PMID:28779239|PMID:29205322|PMID:33072517 11757589 AHCY adenosylhomocysteinase gene DOID:8455 pyridoxine deficiency anemia ISO RGD:69260 D RGD:9068941 20200609 RGD PMID:11575573|REF_RGD_ID:1598897 11757589 AHCY adenosylhomocysteinase gene DOID:893 Wilson disease ISO RGD:731745 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 11757589 AHCY adenosylhomocysteinase gene DOID:9000884 Rhabdomyolysis ISO RGD:731745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:15024124|PMID:16736098|PMID:16872278|PMID:18211827|PMID:25741868|PMID:28492532|PMID:28647132|PMID:28779239|PMID:33072517 11757589 AHCY adenosylhomocysteinase gene DOID:9002457 Experimental Arthritis ISO RGD:69260 D RGD:9068941 20200609 RGD PMID:11123369|REF_RGD_ID:1598898 11757589 AHCY adenosylhomocysteinase gene DOID:9002669 Hypoxia ISO RGD:731745 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 11757589 AHCY adenosylhomocysteinase gene DOID:9003687 Multisystem Autoimmune Disease with Facial Dysmorphism ISO RGD:731745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM PMID:28492532 11757589 AHCY adenosylhomocysteinase gene DOID:9006205 Animal Disease Models ISO RGD:731745 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11757589 AHCY adenosylhomocysteinase gene DOID:9008294 Skin/Hair/Eye Pigmentation, Variation In, 9 ISO RGD:731745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR PMID:11833005|PMID:18488028 11757589 AHCY adenosylhomocysteinase gene DOID:9252 amino acid metabolic disorder ISO RGD:731745 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15024124 11757589 AHCY adenosylhomocysteinase gene DOID:9279 hyperhomocysteinemia ISO RGD:69260 D RGD:9068941 20200609 RGD PMID:12208805|REF_RGD_ID:1598896 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:0060180 colitis susceptibility ISO RGD:732638 D RGD:9068941 20200609 RGD PMID:20650341|REF_RGD_ID:5509936 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:0060611 abdominal obesity-metabolic syndrome ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15309680 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:0080000 muscular disease ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19683050 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23603006 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:732638 D RGD:9068941 20200609 RGD PMID:31211621|REF_RGD_ID:14747028 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:737309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:1059 intellectual disability ISO RGD:737309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:10652 Alzheimer's disease ISO RGD:737309 D RGD:9068941 20200609 RGD DNA:SNP:CDS:rs1800206, p.L162V PMID:12938026|REF_RGD_ID:5561899 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:10652 Alzheimer's disease no_association ISO RGD:737309 D RGD:9068941 20200609 RGD No association found for any polymorphisms of PPARA, including rs1800206 PMID:17850927|REF_RGD_ID:5561928 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:10763 hypertension ISO RGD:3369 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:19763017|REF_RGD_ID:2313778 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:10763 hypertension ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16054168|PMID:19834340 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:10763 hypertension treatment ISO RGD:3369 D RGD:9068941 20200609 RGD PMID:15967866|REF_RGD_ID:1580222 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:10908 hydrocephalus ISO RGD:3369 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain:Hydrocephalus-Texas (HTX, RS:0000399) vs. SD (RS:0000681) rats PMID:15964663|REF_RGD_ID:1624238 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:1168 familial hyperlipidemia ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21640707 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:12351 alcoholic hepatitis treatment ISO RGD:3369 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:12556 acute kidney tubular necrosis ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19834340 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:14566 disease of cellular proliferation ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17405874 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:1485 cystic fibrosis ISO RGD:737309 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression, decreased activity:peripheral blood lymphocytes PMID:16875506|REF_RGD_ID:5683626 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:305 carcinoma ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11137312 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:3146 lipid metabolism disorder ISO RGD:737309 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L162V (human) PMID:10828087|REF_RGD_ID:1580230 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:3310 atopic dermatitis ISO RGD:732638 D RGD:9068941 20200609 RGD potential therapeutic target with or without glucocorticoid therapy PMID:21633371|REF_RGD_ID:5509940 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:3310 atopic dermatitis ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:3393 coronary artery disease susceptibility ISO RGD:737309 D RGD:9068941 20200609 RGD DNA:snp:intron: (human) PMID:16043164|REF_RGD_ID:1580228 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:732638 D RGD:9068941 20200609 RGD PMID:17888025|REF_RGD_ID:5563035 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:5419 schizophrenia ISO RGD:732638 D RGD:9068941 20220825 MouseDO OMIM:181500 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:557 kidney disease ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316343 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:576 proteinuria ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16054168 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:5844 myocardial infarction ISO RGD:737309 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs4253623, minor allele associated with increased risk PMID:18549840|REF_RGD_ID:5562819 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:630 genetic disease ISO RGD:737309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:3369 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:missense mutation:cds:p.L162V (human) PMID:19119483|REF_RGD_ID:15042881 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732638 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:missense mutation:cds:p.L162V (human) PMID:19119483|REF_RGD_ID:15042881 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:737309 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:missense mutation:cds:p.L162V (human) PMID:19119483|REF_RGD_ID:15042881 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:783 end stage renal disease ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:824 periodontitis ISO RGD:3369 D RGD:9068941 20200609 RGD possible therapeutic target PMID:21253492|REF_RGD_ID:5509938 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:8778 Crohn's disease ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21829567 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11137312 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9000998 Brain Injuries ISO RGD:3369 D RGD:9068941 20200609 RGD agonist more effective in combination with simvastatin PMID:18562561|REF_RGD_ID:5508455 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9001285 Alcoholic Liver Diseases severity ISO RGD:732638 D RGD:9068941 20200609 RGD DNA:knockout::increased severity in knockouts PMID:15382117|REF_RGD_ID:5683636 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22919386 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17261635 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9002906 Multiple Organ Failure severity ISO RGD:732638 D RGD:9068941 20200609 RGD associated with Drug Toxicity (CTD:0005347), Zymosan (CHEBI:37671); DNA:knockout::knockout increases severity PMID:17047518|REF_RGD_ID:5683625 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9003234 Hypertensive Nephropathy ISO RGD:3369 D RGD:9068941 20200609 RGD Strain: SHRSP PMID:20671072|REF_RGD_ID:5509943 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9003370 Dyslipidemias ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16168052 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9003936 Cardiomegaly ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22198280 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9004009 Reperfusion Injury ISO RGD:3369 D RGD:9068941 20200609 RGD liver ischemia/reperfusion injury PMID:21305343|REF_RGD_ID:5509942 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9004009 Reperfusion Injury ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19151258 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9004017 Chronic Hepatitis C ISO RGD:3369 D RGD:9068941 20200609 RGD associated with liver cirrhosis;mRNA, protein:decreased expression:liver (human) PMID:15685545|REF_RGD_ID:5683635 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9004017 Chronic Hepatitis C ISO RGD:732638 D RGD:9068941 20200609 RGD associated with liver cirrhosis;mRNA, protein:decreased expression:liver (human) PMID:15685545|REF_RGD_ID:5683635 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9004017 Chronic Hepatitis C ISO RGD:737309 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver hepatocytes PMID:15685545|REF_RGD_ID:5683635 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9004484 Sepsis severity ISO RGD:732638 D RGD:9068941 20200609 RGD DNA:knockout::associated with more severe disease PMID:22089192|REF_RGD_ID:5562037 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9004484 Sepsis severity ISO RGD:737309 D RGD:9068941 20200609 RGD RNA:decreased expression:blood:associated with more severe disease PMID:22089192|REF_RGD_ID:5562037 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:737309 D RGD:9068941 20200609 RGD DNA:snp:intron: (human) PMID:11864924|REF_RGD_ID:1580229 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11137312 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9005369 Hepatomegaly ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14982965 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9005372 Inflammation ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21300114 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12967931|PMID:14563825|PMID:23090186 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9005911 Hyperapobetalipoproteinemia ISO RGD:737309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperapobetalipoproteinemia, susceptibility to PMID:10828087|PMID:12006394|PMID:15309680 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9006599 Hypertriglyceridemia ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15309680 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19683050 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18703563 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:3369 D RGD:9068941 20200609 RGD Strain: ZDF PMID:19317897|REF_RGD_ID:5509944 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9007188 Liver Neoplasms ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20143881|PMID:29134746 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9007346 Cachexia ISO RGD:737309 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive (COPD, MeSH:D029424); RNA:decreased expression:skeletal muscle PMID:17459894|REF_RGD_ID:5683621 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732638 D RGD:9068941 20200609 RGD LPS-induced acute liver damage PMID:21262334|REF_RGD_ID:5509941 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24385052 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9007571 Hyperlipoproteinemias ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10828087 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9007692 Insulin Resistance ISO RGD:732638 D RGD:9068941 20200609 RGD PMID:19322024|REF_RGD_ID:5683642 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9007692 Insulin Resistance ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16168052|PMID:21324916 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16411023 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9351 diabetes mellitus ISO RGD:732638 D RGD:9068941 20220825 MouseDO 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17317762|PMID:31626838 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9427 hypertensive encephalopathy ISO RGD:3369 D RGD:9068941 20200609 RGD Strain: SHRSP PMID:20671072|REF_RGD_ID:5509943 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9452 fatty liver disease ISO RGD:3369 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;mRNA:decreased expression:liver (human) PMID:16393287|REF_RGD_ID:15042851 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9452 fatty liver disease ISO RGD:732638 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus (CTD:0000249); in high fat-fed foz/foz obese/diabetic mice PMID:21929649|REF_RGD_ID:5509939 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9452 fatty liver disease ISO RGD:732638 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;mRNA:decreased expression:liver (human) PMID:16393287|REF_RGD_ID:15042851 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9452 fatty liver disease ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19124612 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9452 fatty liver disease ISO RGD:737309 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;mRNA:decreased expression:liver (human) PMID:16393287|REF_RGD_ID:15042851 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:732638 D RGD:9068941 20200609 RGD PMID:19472040|REF_RGD_ID:2313779 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9970 obesity ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11089532|PMID:30738174 11757610 PPARA peroxisome proliferator activated receptor alpha gene DOID:9993 hypoglycemia ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16777972 11757629 GDF11 growth differentiation factor 11 gene DOID:0050567 orofacial cleft ISO RGD:731907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofacial cleft PMID:31215115 11757629 GDF11 growth differentiation factor 11 gene DOID:0080600 COVID-19 ISO RGD:731907 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11757629 GDF11 growth differentiation factor 11 gene DOID:630 genetic disease ISO RGD:731907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757629 GDF11 growth differentiation factor 11 gene DOID:9004229 VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES ISO RGD:731907 D RGD:7240710 20220406 OMIM 11757629 GDF11 growth differentiation factor 11 gene DOID:9004229 VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES ISO RGD:731907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vertebral hypersegmentation and orofacial anomalies PMID:25741868|PMID:31215115 11757637 PPARGC1B PPARG coactivator 1 beta gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350671 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11757637 PPARGC1B PPARG coactivator 1 beta gene DOID:0080600 COVID-19 ISO RGD:1350671 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11757637 PPARGC1B PPARG coactivator 1 beta gene DOID:1168 familial hyperlipidemia ISO RGD:1350671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17932310 11757637 PPARGC1B PPARG coactivator 1 beta gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1350671 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:22975021 11757637 PPARGC1B PPARG coactivator 1 beta gene DOID:630 genetic disease ISO RGD:1350671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757637 PPARGC1B PPARG coactivator 1 beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11757637 PPARGC1B PPARG coactivator 1 beta gene DOID:9004484 Sepsis ISO RGD:1331978 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle PMID:20647557|REF_RGD_ID:6484531 11757637 PPARGC1B PPARG coactivator 1 beta gene DOID:9004484 Sepsis ISO RGD:727948 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle PMID:20647557|REF_RGD_ID:6484531 11757637 PPARGC1B PPARG coactivator 1 beta gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350671 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11757637 PPARGC1B PPARG coactivator 1 beta gene DOID:9007692 Insulin Resistance ISO RGD:1350671 D RGD:9068941 20200609 RGD PMID:16896940|REF_RGD_ID:1642499 11757637 PPARGC1B PPARG coactivator 1 beta gene DOID:9008939 Breast Neoplasms ISO RGD:1350671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20961995 11757637 PPARGC1B PPARG coactivator 1 beta gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1350671 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:102605C>A PMID:16759305|REF_RGD_ID:1642500 11757637 PPARGC1B PPARG coactivator 1 beta gene DOID:9970 obesity ISO RGD:1350671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity, variation in PMID:15863669 11757637 PPARGC1B PPARG coactivator 1 beta gene DOID:9970 obesity resistance ISO RGD:1350671 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A203P PMID:15863669|REF_RGD_ID:1642501 11757653 QKI QKI, KH domain containing RNA binding gene DOID:3070 high grade glioma ISO RGD:1319346 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26829751 11757653 QKI QKI, KH domain containing RNA binding gene DOID:3213 demyelinating disease ISO RGD:1319346 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:16245024 11757653 QKI QKI, KH domain containing RNA binding gene DOID:630 genetic disease ISO RGD:1319346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757653 QKI QKI, KH domain containing RNA binding gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1584886 D RGD:9068941 20200609 RGD PMID:22740327|REF_RGD_ID:10045997 11757664 MAP7D1 MAP7 domain containing 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11757664 MAP7D1 MAP7 domain containing 1 gene DOID:630 genetic disease ISO RGD:1603999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757685 COL6A1 collagen type VI alpha 1 chain gene DOID:0050558 Ullrich congenital muscular dystrophy ISO RGD:1352880 D RGD:7240710 20180130 OMIM 11757685 COL6A1 collagen type VI alpha 1 chain gene DOID:0050558 Ullrich congenital muscular dystrophy ISO RGD:1352880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COL6A1-related Disorder | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1, autosomal dominant PMID:15689448|PMID:16088929|PMID:16130093|PMID:16935502|PMID:17015493|PMID:17785673|PMID:17785674|PMID:17886299|PMID:18160674|PMID:18414213|PMID:18642359|PMID:18825676|PMID:19204719|PMID:19344236|PMID:19564581|PMID:20301676|PMID:20576434|PMID:20882040|PMID:20976770|PMID:22075033|PMID:22789865|PMID:22975586|PMID:23572247|PMID:24038877|PMID:24223098|PMID:24801232|PMID:24959844|PMID:25741868|PMID:26467025|PMID:26867126|PMID:27363342|PMID:27708273|PMID:27854213|PMID:28182637|PMID:28424332|PMID:28492532|PMID:30895940|PMID:34008892|PMID:7551830|PMID:7695699|PMID:8218237|PMID:8730294|PMID:9724608 11757685 COL6A1 collagen type VI alpha 1 chain gene DOID:0050663 Bethlem myopathy ISO RGD:1352880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, benign congenital | ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures PMID:10419498|PMID:11707460|PMID:12840783|PMID:15689448|PMID:15955946|PMID:16088929|PMID:16130093|PMID:16199547|PMID:17015493|PMID:17576681|PMID:17886299|PMID:18366090|PMID:18414213|PMID:18825676|PMID:19204719|PMID:19344236|PMID:20301676|PMID:20302629|PMID:20976770|PMID:20981092|PMID:21280092|PMID:22075033|PMID:22789865|PMID:22975586|PMID:23040494|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24223098|PMID:24271325|PMID:25741868|PMID:25749816|PMID:26467025|PMID:26867126|PMID:27363342|PMID:27708273|PMID:27854213|PMID:27884173|PMID:28182637|PMID:28492532|PMID:29419890|PMID:30564623|PMID:34167565|PMID:7551830|PMID:7695699|PMID:8218237|PMID:8730294|PMID:9536098|PMID:9724608 11757685 COL6A1 collagen type VI alpha 1 chain gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1352880 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11757685 COL6A1 collagen type VI alpha 1 chain gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1352880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 11757685 COL6A1 collagen type VI alpha 1 chain gene DOID:0110266 cataract 9 multiple types ISO RGD:1352880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11757685 COL6A1 collagen type VI alpha 1 chain gene DOID:12849 autistic disorder ISO RGD:1352880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11757685 COL6A1 collagen type VI alpha 1 chain gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1352880 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 11757685 COL6A1 collagen type VI alpha 1 chain gene DOID:423 myopathy ISO RGD:1352880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy PMID:16199547|PMID:18366090|PMID:20976770|PMID:21280092|PMID:25635128|PMID:25741868|PMID:27854213|PMID:28492532|PMID:28771251 11757685 COL6A1 collagen type VI alpha 1 chain gene DOID:630 genetic disease ISO RGD:1352880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15689448|PMID:18825676|PMID:19204719|PMID:19344236|PMID:20576434|PMID:24038877|PMID:25741868|PMID:27708273|PMID:28182637|PMID:28492532|PMID:34167565|PMID:7695699|PMID:8218237|PMID:9724608 11757685 COL6A1 collagen type VI alpha 1 chain gene DOID:891 progressive myoclonus epilepsy ISO RGD:1352880 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11757685 COL6A1 collagen type VI alpha 1 chain gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1352880 D RGD:7240710 20190327 OMIM 11757685 COL6A1 collagen type VI alpha 1 chain gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1352880 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:10329467|PMID:10419498|PMID:11707460|PMID:11865138|PMID:11932968|PMID:12840783|PMID:15563506|PMID:15689448|PMID:15955946|PMID:16088929|PMID:16130093|PMID:16199547|PMID:16278855|PMID:16935502|PMID:17015493|PMID:17576681|PMID:17785673|PMID:17785674|PMID:17886299|PMID:18160674|PMID:18366090|PMID:18378883|PMID:18414213|PMID:18642359|PMID:18825676|PMID:19204719|PMID:19344236|PMID:19564581|PMID:19884007|PMID:20301468|PMID:20301676|PMID:20302629|PMID:20576434|PMID:20882040|PMID:20976770|PMID:20981092|PMID:21280092|PMID:21520333|PMID:22075033|PMID:22789865|PMID:22975586|PMID:23040494|PMID:23326386|PMID:23572247|PMID:23738969|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24223098|PMID:24271325|PMID:24801232|PMID:24959844|PMID:25204870|PMID:25535305|PMID:25635128|PMID:25640679|PMID:25741868|PMID:25749816|PMID:25978941|PMID:26436962|PMID:26467025|PMID:26867126|PMID:27363342|PMID:27447704|PMID:27708273|PMID:27854213|PMID:27854218|PMID:27884173|PMID:28182637|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28771251|PMID:28831785|PMID:28877744|PMID:28984114|PMID:29382405|PMID:29406609|PMID:29417091|PMID:29419890|PMID:30564623|PMID:30706156|PMID:30895940|PMID:31130284|PMID:32065942|PMID:32154989|PMID:32389683|PMID:32403337|PMID:32528171|PMID:33250842|PMID:34008892|PMID:34167565|PMID:7551830|PMID:7695699|PMID:7881296|PMID:8218237|PMID:8268929|PMID:8730294|PMID:8782832|PMID:9536098|PMID:9580662|PMID:9724608 11757685 COL6A1 collagen type VI alpha 1 chain gene DOID:9001550 Bethlem Myopathy 1 susceptibility ISO RGD:1352880 D RGD:9068941 20200609 RGD Bethlem myopathy, OMIM:158810;DNA:mutation:cds:962G>T,p.G286V(human) PMID:8782832|REF_RGD_ID:1600934 11757685 COL6A1 collagen type VI alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11757685 COL6A1 collagen type VI alpha 1 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:1352880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11757685 COL6A1 collagen type VI alpha 1 chain gene DOID:9005172 Lung Neoplasms ISO RGD:1352880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23692979 11757685 COL6A1 collagen type VI alpha 1 chain gene DOID:9007913 Collagen VI-related Myopathy ISO RGD:1352880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:11707460|PMID:15689448|PMID:15955946|PMID:16088929|PMID:16130093|PMID:17015493|PMID:17576681|PMID:18378883|PMID:18414213|PMID:19344236|PMID:20302629|PMID:20976770|PMID:20981092|PMID:22075033|PMID:22789865|PMID:22975586|PMID:23040494|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24223098|PMID:25741868|PMID:26467025|PMID:26867126|PMID:27363342|PMID:27854213|PMID:27884173|PMID:28492532|PMID:28831785|PMID:30564623|PMID:32389683|PMID:34167565|PMID:7551830|PMID:7695699|PMID:8218237|PMID:8730294|PMID:9536098 11757685 COL6A1 collagen type VI alpha 1 chain gene DOID:9263 homocystinuria ISO RGD:1352880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11757685 COL6A1 collagen type VI alpha 1 chain gene DOID:9277 primary cerebellar degeneration ISO RGD:1352880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorimotor neuropathy PMID:10419498|PMID:12840783|PMID:15955946|PMID:16199547|PMID:17886299|PMID:18366090|PMID:20301676|PMID:20976770|PMID:21280092|PMID:24271325|PMID:25741868|PMID:25749816|PMID:28492532|PMID:29419890 11757685 COL6A1 collagen type VI alpha 1 chain gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352880 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11757685 COL6A1 collagen type VI alpha 1 chain gene DOID:9775 diastolic heart failure ISO RGD:1352880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 11757685 COL6A1 collagen type VI alpha 1 chain gene DOID:9884 muscular dystrophy ISO RGD:1352880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20716577 11757728 CWC27 CWC27 spliceosome associated cyclophilin gene DOID:10584 retinitis pigmentosa ISO RGD:1321753 D RGD:9068941 20220825 MouseDO 11757728 CWC27 CWC27 spliceosome associated cyclophilin gene DOID:630 genetic disease ISO RGD:1321752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 11757728 CWC27 CWC27 spliceosome associated cyclophilin gene DOID:8501 fundus dystrophy ISO RGD:1321752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28285769|PMID:28492532 11757728 CWC27 CWC27 spliceosome associated cyclophilin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11757728 CWC27 CWC27 spliceosome associated cyclophilin gene DOID:9006431 Metaphyseal Chondrodysplasia with Retinitis Pigmentosa ISO RGD:1321752 D RGD:7240710 20190315 OMIM 11757728 CWC27 CWC27 spliceosome associated cyclophilin gene DOID:9006431 Metaphyseal Chondrodysplasia with Retinitis Pigmentosa ISO RGD:1321752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa with or without skeletal anomalies PMID:10420199|PMID:17576681|PMID:25741868|PMID:28285769|PMID:28492532|PMID:9536098 11757743 MRFAP1 Morf4 family associated protein 1 gene DOID:630 genetic disease ISO RGD:1606988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757752 WNT2B Wnt family member 2B gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:733303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 11757752 WNT2B Wnt family member 2B gene DOID:1911 endodermal sinus tumor ISO RGD:733303 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor PMID:16822086|REF_RGD_ID:2298800 11757752 WNT2B Wnt family member 2B gene DOID:3307 teratoma ISO RGD:733303 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor PMID:16822086|REF_RGD_ID:2298800 11757752 WNT2B Wnt family member 2B gene DOID:630 genetic disease ISO RGD:733303 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11757752 WNT2B Wnt family member 2B gene DOID:9000351 Diarrhea 9 ISO RGD:733303 D RGD:7240710 20190315 OMIM 11757752 WNT2B Wnt family member 2B gene DOID:9000351 Diarrhea 9 ISO RGD:733303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diarrhea 9 PMID:29909964 11757752 WNT2B Wnt family member 2B gene DOID:9001276 Failure to Thrive ISO RGD:733303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:29909964 11757752 WNT2B Wnt family member 2B gene DOID:9007096 Stroke ISO RGD:733303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 11757767 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:0050777 Joubert syndrome ISO RGD:1625089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:17558409|PMID:28492532 11757767 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:0050778 Meckel syndrome ISO RGD:1625089 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:28492532 11757767 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:0070115 Meckel syndrome 1 ISO RGD:1625089 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica PMID:28492532 11757767 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1625089 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 11757767 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:0110980 Joubert syndrome 1 ISO RGD:1625089 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:28492532 11757767 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:0111112 nephronophthisis 1 ISO RGD:1625089 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:28492532 11757767 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:12712 nephronophthisis ISO RGD:1625089 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 11757767 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:1909 melanoma ISO RGD:1625089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23455637 11757767 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:4450 renal cell carcinoma treatment ISO RGD:1625089 D RGD:9068941 20230520 RGD PMID:30648791|REF_RGD_ID:329812005 11757767 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:630 genetic disease ISO RGD:1625089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11757767 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9003081 Growth Retardation, Developmental Delay, Coarse Facies, and Early Death ISO RGD:1625089 D RGD:7240710 20230517 OMIM 11757767 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9003081 Growth Retardation, Developmental Delay, Coarse Facies, and Early Death ISO RGD:1625089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM | ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death PMID:19559399|PMID:19833892|PMID:20299471|PMID:23505181|PMID:23825611|PMID:24289790|PMID:25741868|PMID:26378117|PMID:26820768|PMID:27105045|PMID:28492532 11757767 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9004581 Pediatric Obesity ISO RGD:1625089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25137265 11757767 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9004657 Weight Gain ISO RGD:1625089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25322899 11757767 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9007633 Body Weight ISO RGD:1625089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344219|PMID:22344221 11757767 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9008939 Breast Neoplasms ISO RGD:1625089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23535733 11757767 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1625089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104008 11757767 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9970 obesity ISO RGD:1625089 D RGD:7240710 20230517 OMIM 11757779 ETNK2 ethanolamine kinase 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1313254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11757779 ETNK2 ethanolamine kinase 2 gene DOID:12849 autistic disorder ISO RGD:1313254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11757779 ETNK2 ethanolamine kinase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1313254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11757779 ETNK2 ethanolamine kinase 2 gene DOID:630 genetic disease ISO RGD:1313254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757779 ETNK2 ethanolamine kinase 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1313254 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11757779 ETNK2 ethanolamine kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11757794 THY1 Thy-1 cell surface antigen gene DOID:0060017 CD3epsilon deficiency ISO RGD:735861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 11757794 THY1 Thy-1 cell surface antigen gene DOID:0060837 isolated microphthalmia 5 ISO RGD:735861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11757794 THY1 Thy-1 cell surface antigen gene DOID:0080690 RASopathy ISO RGD:735861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11757794 THY1 Thy-1 cell surface antigen gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:735861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 11757794 THY1 Thy-1 cell surface antigen gene DOID:0111971 immunodeficiency 18 ISO RGD:735861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 11757794 THY1 Thy-1 cell surface antigen gene DOID:0111972 immunodeficiency 19 ISO RGD:735861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 11757794 THY1 Thy-1 cell surface antigen gene DOID:0111973 immunodeficiency 17 ISO RGD:735861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 11757794 THY1 Thy-1 cell surface antigen gene DOID:12510 retinal ischemia treatment ISO RGD:3860 D RGD:9068941 20200609 RGD PMID:23537149|REF_RGD_ID:10755711 11757794 THY1 Thy-1 cell surface antigen gene DOID:5419 schizophrenia ISO RGD:735861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11757794 THY1 Thy-1 cell surface antigen gene DOID:5679 retinal disease ISO RGD:3860 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:18836575|REF_RGD_ID:5490154 11757794 THY1 Thy-1 cell surface antigen gene DOID:5679 retinal disease ISO RGD:735861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 11757794 THY1 Thy-1 cell surface antigen gene DOID:630 genetic disease ISO RGD:735861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757794 THY1 Thy-1 cell surface antigen gene DOID:684 hepatocellular carcinoma ISO RGD:735861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11757794 THY1 Thy-1 cell surface antigen gene DOID:9004009 Reperfusion Injury ISO RGD:735861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 11757794 THY1 Thy-1 cell surface antigen gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:735861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11757794 THY1 Thy-1 cell surface antigen gene DOID:9007661 Dwarfism ISO RGD:735861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11757802 RNASE13 ribonuclease A family member 13 (inactive) gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1344390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 11757802 RNASE13 ribonuclease A family member 13 (inactive) gene DOID:630 genetic disease ISO RGD:1344390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757802 RNASE13 ribonuclease A family member 13 (inactive) gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1344390 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11757808 CALB2 calbindin 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:731363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 11757808 CALB2 calbindin 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:731363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11757808 CALB2 calbindin 2 gene DOID:13141 uveitis ISO RGD:731363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578012 11757808 CALB2 calbindin 2 gene DOID:1790 malignant mesothelioma ISO RGD:731363 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 11757808 CALB2 calbindin 2 gene DOID:630 genetic disease ISO RGD:731363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757808 CALB2 calbindin 2 gene DOID:9001834 Peritoneal Neoplasms ISO RGD:731363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 11757808 CALB2 calbindin 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:731363 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium PMID:18604736|REF_RGD_ID:2315881 11757827 SOGA3 SOGA family member 3 gene DOID:630 genetic disease ISO RGD:1347447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757827 SOGA3 SOGA family member 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1347447 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11757839 MEMO1 mediator of cell motility 1 gene DOID:0090065 familial cold autoinflammatory syndrome 4 ISO RGD:1320537 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 PMID:28492532 11757839 MEMO1 mediator of cell motility 1 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1320537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:28492532 11757839 MEMO1 mediator of cell motility 1 gene DOID:630 genetic disease ISO RGD:1320537 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757839 MEMO1 mediator of cell motility 1 gene DOID:9008410 Autoinflammation with Infantile Enterocolitis ISO RGD:1320537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis PMID:28492532 11757865 CREB3 cAMP responsive element binding protein 3 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1318829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11757865 CREB3 cAMP responsive element binding protein 3 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1318829 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11757865 CREB3 cAMP responsive element binding protein 3 gene DOID:0080942 anauxetic dysplasia ISO RGD:1318829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11757865 CREB3 cAMP responsive element binding protein 3 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1318829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11757865 CREB3 cAMP responsive element binding protein 3 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1318829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11757865 CREB3 cAMP responsive element binding protein 3 gene DOID:3007 breast ductal carcinoma ISO RGD:1318829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 11757865 CREB3 cAMP responsive element binding protein 3 gene DOID:630 genetic disease ISO RGD:1318829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757865 CREB3 cAMP responsive element binding protein 3 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1318829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11757865 CREB3 cAMP responsive element binding protein 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11757865 CREB3 cAMP responsive element binding protein 3 gene DOID:9870 galactosemia ISO RGD:1318829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11757878 USP11 ubiquitin specific peptidase 11 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11757878 USP11 ubiquitin specific peptidase 11 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1347156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 11757878 USP11 ubiquitin specific peptidase 11 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1347156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11757878 USP11 ubiquitin specific peptidase 11 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1347156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11757878 USP11 ubiquitin specific peptidase 11 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1347156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 11757878 USP11 ubiquitin specific peptidase 11 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1347156 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 11757878 USP11 ubiquitin specific peptidase 11 gene DOID:12849 autistic disorder ISO RGD:1347156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11757878 USP11 ubiquitin specific peptidase 11 gene DOID:630 genetic disease ISO RGD:1347156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757878 USP11 ubiquitin specific peptidase 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11757878 USP11 ubiquitin specific peptidase 11 gene DOID:9563 bronchiectasis ISO RGD:1347156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bronchiectasis 11757903 ACMSD aminocarboxymuconate semialdehyde decarboxylase gene DOID:1074 kidney failure ISO RGD:620868 D RGD:9068941 20200609 RGD PMID:10966936|REF_RGD_ID:13831124 11757903 ACMSD aminocarboxymuconate semialdehyde decarboxylase gene DOID:630 genetic disease ISO RGD:732597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757903 ACMSD aminocarboxymuconate semialdehyde decarboxylase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620868 D RGD:9068941 20200609 RGD PMID:19169727|REF_RGD_ID:13831126 11757903 ACMSD aminocarboxymuconate semialdehyde decarboxylase gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:620868 D RGD:9068941 20200609 RGD PMID:12042425|REF_RGD_ID:13831125 11757903 ACMSD aminocarboxymuconate semialdehyde decarboxylase gene DOID:9006832 Puromycin Aminonucleoside Nephrosis ISO RGD:620868 D RGD:9068941 20200609 RGD PMID:16711654|REF_RGD_ID:13831123 11757930 TAAR9 trace amine associated receptor 9 gene DOID:630 genetic disease ISO RGD:1352345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757933 ITGA2B integrin subunit alpha 2b gene DOID:0060573 von Willebrand's disease 1 severity ISO RGD:1349627 D RGD:9068941 20200609 RGD DNA:haplotype:cds: PMID:15226188|REF_RGD_ID:10766468 11757933 ITGA2B integrin subunit alpha 2b gene DOID:0060574 von Willebrand's disease 2 no_association ISO RGD:1349627 D RGD:9068941 20200609 RGD DNA:haplotype:: PMID:16409463|REF_RGD_ID:10766469 11757933 ITGA2B integrin subunit alpha 2b gene DOID:0060691 platelet-type bleeding disorder 16 ISO RGD:1349627 D RGD:7240710 20180130 OMIM 11757933 ITGA2B integrin subunit alpha 2b gene DOID:0060691 platelet-type bleeding disorder 16 ISO RGD:1349627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Platelet-type bleeding disorder 16 PMID:10607701|PMID:14687991|PMID:15099289|PMID:1638023|PMID:16722529|PMID:18065693|PMID:19691478|PMID:19805198|PMID:20020534|PMID:20081061|PMID:21454453|PMID:21917754|PMID:22102273|PMID:25539746|PMID:25728920|PMID:25741868|PMID:25749862|PMID:25944497|PMID:27469266|PMID:28492532|PMID:29090484|PMID:31064749|PMID:31119735|PMID:32139434|PMID:32237906|PMID:32581362|PMID:33276370|PMID:34355501|PMID:9215749|PMID:9834222 11757933 ITGA2B integrin subunit alpha 2b gene DOID:1588 thrombocytopenia ISO RGD:1349627 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:1638023|PMID:18065693|PMID:19805198|PMID:20081061|PMID:21454453|PMID:22102273|PMID:25728920|PMID:25741868|PMID:25749862|PMID:25944497|PMID:27469266|PMID:28492532|PMID:29090484|PMID:31064749|PMID:31119735|PMID:32581362|PMID:33276370|PMID:9215749|PMID:9834222 11757933 ITGA2B integrin subunit alpha 2b gene DOID:2213 hemorrhagic disease ISO RGD:1349627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 11757933 ITGA2B integrin subunit alpha 2b gene DOID:2219 Glanzmann's thrombasthenia ISO RGD:1349627 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2 | ClinVar Annotator: match by term: Glanzmann thrombasthenia PMID:10607701|PMID:11091187|PMID:11798398|PMID:12008952|PMID:12083483|PMID:12181054|PMID:12424194|PMID:12487785|PMID:12506038|PMID:1317725|PMID:14687991|PMID:15099289|PMID:15748238|PMID:15886807|PMID:16199547|PMID:16359514|PMID:1638023|PMID:16463284|PMID:16722529|PMID:17488698|PMID:17576681|PMID:18065693|PMID:18422845|PMID:18791937|PMID:18976939|PMID:19170775|PMID:19172520|PMID:19175981|PMID:1926040|PMID:19339519|PMID:19691478|PMID:19805198|PMID:20020534|PMID:20081061|PMID:2014236|PMID:20492470|PMID:21113249|PMID:21454453|PMID:21487445|PMID:21557682|PMID:21917754|PMID:22102273|PMID:22190468|PMID:22250950|PMID:22513797|PMID:22738334|PMID:23305224|PMID:24418945|PMID:25326637|PMID:25373348|PMID:25539746|PMID:25728920|PMID:25741868|PMID:25749862|PMID:25827233|PMID:25944497|PMID:26096001|PMID:27469266|PMID:27607598|PMID:27696190|PMID:28232155|PMID:28492532|PMID:28888044|PMID:28983057|PMID:29090484|PMID:29675921|PMID:29884513|PMID:30138987|PMID:30792900|PMID:31064749|PMID:31119735|PMID:32139434|PMID:32237906|PMID:32581362|PMID:33276370|PMID:34355501|PMID:7508443|PMID:7620188|PMID:7706461|PMID:8282784|PMID:8704171|PMID:8883261|PMID:9215749|PMID:9473221|PMID:9536098|PMID:9722314|PMID:9734640|PMID:9763559|PMID:9834222|PMID:9920835 11757933 ITGA2B integrin subunit alpha 2b gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1349627 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 11757933 ITGA2B integrin subunit alpha 2b gene DOID:3410 carotid artery thrombosis ISO RGD:1349627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1605806 11757933 ITGA2B integrin subunit alpha 2b gene DOID:630 genetic disease ISO RGD:1349627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11757933 ITGA2B integrin subunit alpha 2b gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1349627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11757933 ITGA2B integrin subunit alpha 2b gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11757933 ITGA2B integrin subunit alpha 2b gene DOID:9002319 Glanzmann Thrombasthenia 1 ISO RGD:1349627 D RGD:7240710 20220427 OMIM 11757933 ITGA2B integrin subunit alpha 2b gene DOID:9002319 Glanzmann Thrombasthenia 1 ISO RGD:1349627 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glanzmann thrombasthenia 1 PMID:10607701|PMID:11798398|PMID:12083483|PMID:12181054|PMID:12424194|PMID:1317725|PMID:15099289|PMID:16359514|PMID:16463284|PMID:1702098|PMID:17576681|PMID:1926040|PMID:19691478|PMID:20020534|PMID:2014236|PMID:21113249|PMID:21454453|PMID:21487445|PMID:21557682|PMID:21917754|PMID:22190468|PMID:22513797|PMID:24418945|PMID:25326637|PMID:25373348|PMID:25539746|PMID:25728920|PMID:25741868|PMID:27607598|PMID:27696190|PMID:28232155|PMID:28492532|PMID:28983057|PMID:29090484|PMID:29675921|PMID:30138987|PMID:31064749|PMID:31119735|PMID:32237906|PMID:32581362|PMID:34355501|PMID:7508443|PMID:7620188|PMID:7706461|PMID:8282784|PMID:8704171|PMID:8883261|PMID:9215749|PMID:9473221|PMID:9536098|PMID:9722314|PMID:9734640|PMID:9763559|PMID:9920835 11757933 ITGA2B integrin subunit alpha 2b gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1349627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9445356 11757933 ITGA2B integrin subunit alpha 2b gene DOID:9003340 Neonatal Alloimmune Thrombocytopenia ISO RGD:1349627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BAK PLATELET-SPECIFIC ANTIGEN PMID:2014236|PMID:25741868|PMID:28492532 11757933 ITGA2B integrin subunit alpha 2b gene DOID:9004009 Reperfusion Injury ISO RGD:1596428 D RGD:9068941 20200609 RGD PMID:11705748|REF_RGD_ID:2316361 11757933 ITGA2B integrin subunit alpha 2b gene DOID:9005876 Thrombocytopenic Purpura ISO RGD:1557725 D RGD:9068941 20200609 RGD PMID:11493456|REF_RGD_ID:2316362 11757933 ITGA2B integrin subunit alpha 2b gene DOID:9005930 Endotoxemia ISO RGD:1596428 D RGD:9068941 20200609 RGD PMID:15280099|REF_RGD_ID:2316360 11757933 ITGA2B integrin subunit alpha 2b gene DOID:9007096 Stroke ISO RGD:1349627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9445356 11757933 ITGA2B integrin subunit alpha 2b gene DOID:9007096 Stroke ISO RGD:1596428 D RGD:9068941 20200609 RGD PMID:15678115|REF_RGD_ID:2316358 11757967 FGFR4 fibroblast growth factor receptor 4 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:736644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11757967 FGFR4 fibroblast growth factor receptor 4 gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:736644 D RGD:9068941 20211029 RGD DNA:SNP:exon 9: p.G388R (human) PMID:20127014|REF_RGD_ID:150520164 11757967 FGFR4 fibroblast growth factor receptor 4 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:736644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11757967 FGFR4 fibroblast growth factor receptor 4 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:736644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11757967 FGFR4 fibroblast growth factor receptor 4 gene DOID:0112103 Sotos syndrome 1 ISO RGD:736644 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 11757967 FGFR4 fibroblast growth factor receptor 4 gene DOID:10283 prostate cancer disease_progression ISO RGD:736644 D RGD:9068941 20211008 RGD DNA:SNP:exon 9: 288G>A, p.G388R (human) PMID:15448004|REF_RGD_ID:150429969 11757967 FGFR4 fibroblast growth factor receptor 4 gene DOID:10534 stomach cancer ameliorates ISO RGD:736644 D RGD:9068941 20211029 RGD human cells in mouse model PMID:26432329|REF_RGD_ID:150520156 11757967 FGFR4 fibroblast growth factor receptor 4 gene DOID:10534 stomach cancer severity ISO RGD:736644 D RGD:9068941 20211022 RGD DNA:SNP:exon 9: p.G388R (human) PMID:20844967|REF_RGD_ID:150520039 11757967 FGFR4 fibroblast growth factor receptor 4 gene DOID:10534 stomach cancer severity ISO RGD:736644 D RGD:9068941 20211022 RGD protein:increased expression:stomach, cytoplasm (human) PMID:21567388|REF_RGD_ID:150520025 11757967 FGFR4 fibroblast growth factor receptor 4 gene DOID:10534 stomach cancer treatment ISO RGD:736644 D RGD:9068941 20211029 RGD PMID:32973082|REF_RGD_ID:150520068 11757967 FGFR4 fibroblast growth factor receptor 4 gene DOID:11394 adult respiratory distress syndrome ISO RGD:736644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 11757967 FGFR4 fibroblast growth factor receptor 4 gene DOID:219 colon cancer treatment ISO RGD:736644 D RGD:9068941 20211029 RGD human cells in mouse model PMID:17599042|REF_RGD_ID:150520062 11757967 FGFR4 fibroblast growth factor receptor 4 gene DOID:3247 rhabdomyosarcoma ISO RGD:736644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:19809159|PMID:24124571 11757967 FGFR4 fibroblast growth factor receptor 4 gene DOID:3748 esophagus squamous cell carcinoma treatment ISO RGD:736644 D RGD:9068941 20211022 RGD PMID:25989802|REF_RGD_ID:150520041 11757967 FGFR4 fibroblast growth factor receptor 4 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:736644 D RGD:9068941 20211008 RGD human cells in mouse model PMID:29402970|REF_RGD_ID:150429984 11757967 FGFR4 fibroblast growth factor receptor 4 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:736644 D RGD:9068941 20211008 RGD mRNA, protein:increased expression:lung (human) PMID:26045670|REF_RGD_ID:150429970 11757967 FGFR4 fibroblast growth factor receptor 4 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:736644 D RGD:9068941 20211008 RGD DNA:SNP:exon 9: p.G3888R (rs351855) (human) PMID:23524567|REF_RGD_ID:150429982 11757967 FGFR4 fibroblast growth factor receptor 4 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:736644 D RGD:9068941 20211008 RGD DNA:SNP:exon 9: p.G388R (human) PMID:16061909|REF_RGD_ID:150429976 11757967 FGFR4 fibroblast growth factor receptor 4 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:736644 D RGD:9068941 20211008 RGD human cells in mouse model PMID:29402970|REF_RGD_ID:150429984 11757967 FGFR4 fibroblast growth factor receptor 4 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:736644 D RGD:9068941 20220520 RGD DNA:SNP:exon 9: p.G388R (rs351855)(human) PMID:19296538|REF_RGD_ID:150429981 11757967 FGFR4 fibroblast growth factor receptor 4 gene DOID:5082 liver cirrhosis ISO RGD:736644 D RGD:9068941 20211022 RGD associated with hepatocellular carcinoma; DNA:SNP:cds: p.G388R (rs351855) (human) PMID:25860955|REF_RGD_ID:11057080 11757967 FGFR4 fibroblast growth factor receptor 4 gene DOID:5520 head and neck squamous cell carcinoma severity ISO RGD:736644 D RGD:9068941 20211022 RGD DNA:SNP:exon 9: p.G388R (human) PMID:17084840|REF_RGD_ID:150520023 11757967 FGFR4 fibroblast growth factor receptor 4 gene DOID:630 genetic disease ISO RGD:736644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11757967 FGFR4 fibroblast growth factor receptor 4 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:736644 D RGD:9068941 20211029 RGD PMID:32677805|REF_RGD_ID:150520166 11757967 FGFR4 fibroblast growth factor receptor 4 gene DOID:8567 Hodgkin's lymphoma ISO RGD:736644 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Classic Hodgkin lymphoma PMID:32934698 11757967 FGFR4 fibroblast growth factor receptor 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15448004 11757967 FGFR4 fibroblast growth factor receptor 4 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cancer progression and tumor cell motility PMID:11830541|PMID:25741868|PMID:26675719|PMID:33116287 11757967 FGFR4 fibroblast growth factor receptor 4 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:736644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11757967 FGFR4 fibroblast growth factor receptor 4 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:736644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 11757967 FGFR4 fibroblast growth factor receptor 4 gene DOID:9008939 Breast Neoplasms ISO RGD:736644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:19946327 11757967 FGFR4 fibroblast growth factor receptor 4 gene DOID:9256 colorectal cancer ISO RGD:736644 D RGD:9068941 20211029 RGD protein:increased expression:colorectum (human) PMID:24503538|REF_RGD_ID:150520155 11757967 FGFR4 fibroblast growth factor receptor 4 gene DOID:9261 nasopharynx carcinoma severity ISO RGD:736644 D RGD:9068941 20211029 RGD protein:increased expression:nasopharynx (human) PMID:26535066|REF_RGD_ID:150520063 11758001 SART1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:736742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 11758001 SART1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP gene DOID:1059 intellectual disability ISO RGD:736742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11758001 SART1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11758001 SART1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP gene DOID:2746 glycogen storage disease V ISO RGD:736742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11758001 SART1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP gene DOID:630 genetic disease ISO RGD:736742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758001 SART1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:736742 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11758001 SART1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:736742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11758028 CST7 cystatin F gene DOID:0080600 COVID-19 ISO RGD:1342542 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11758028 CST7 cystatin F gene DOID:630 genetic disease ISO RGD:1342542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758028 CST7 cystatin F gene DOID:9000217 Stomach Neoplasms ISO RGD:1342542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11758036 LYAR Ly1 antibody reactive gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1604346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 11758036 LYAR Ly1 antibody reactive gene DOID:630 genetic disease ISO RGD:1604346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758050 AGR2 anterior gradient 2, protein disulphide isomerase family member gene DOID:1612 breast cancer disease_progression ISO RGD:1312142 D RGD:9068941 20200609 RGD PMID:16598187|REF_RGD_ID:2325661 11758050 AGR2 anterior gradient 2, protein disulphide isomerase family member gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:1312142 D RGD:9068941 20200716 RGD protein:increased expression:pancreas PMID:19714807|REF_RGD_ID:2325658 11758050 AGR2 anterior gradient 2, protein disulphide isomerase family member gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1312142 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:19609859|REF_RGD_ID:2325659 11758050 AGR2 anterior gradient 2, protein disulphide isomerase family member gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11758050 AGR2 anterior gradient 2, protein disulphide isomerase family member gene DOID:630 genetic disease ISO RGD:1312142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758050 AGR2 anterior gradient 2, protein disulphide isomerase family member gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312142 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881|PMID:25237833 11758050 AGR2 anterior gradient 2, protein disulphide isomerase family member gene DOID:9004078 Pancreatic Intraepithelial Neoplasia ISO RGD:1312142 D RGD:9068941 20200716 RGD protein:increased expression:pancreas PMID:19714807|REF_RGD_ID:2325658 11758050 AGR2 anterior gradient 2, protein disulphide isomerase family member gene DOID:9005186 RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA ISO RGD:1312142 D RGD:7240710 20230517 OMIM 11758050 AGR2 anterior gradient 2, protein disulphide isomerase family member gene DOID:9005186 RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA ISO RGD:1312142 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Respiratory infections, recurrent, and failure to thrive with or without diarrhea PMID:34952832 11758050 AGR2 anterior gradient 2, protein disulphide isomerase family member gene DOID:9008939 Breast Neoplasms ISO RGD:1312142 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20531310 11758069 PID1 phosphotyrosine interaction domain containing 1 gene DOID:630 genetic disease ISO RGD:1605994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758076 TES testin LIM domain protein gene DOID:3068 glioblastoma ISO RGD:1603311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16909125 11758076 TES testin LIM domain protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11758076 TES testin LIM domain protein gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11758076 TES testin LIM domain protein gene DOID:630 genetic disease ISO RGD:1603311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758076 TES testin LIM domain protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11758090 RAPGEF4 Rap guanine nucleotide exchange factor 4 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1351048 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11758090 RAPGEF4 Rap guanine nucleotide exchange factor 4 gene DOID:12849 autistic disorder ISO RGD:1351048 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple (human) PMID:14593429|REF_RGD_ID:9835387 11758090 RAPGEF4 Rap guanine nucleotide exchange factor 4 gene DOID:630 genetic disease ISO RGD:1351048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758090 RAPGEF4 Rap guanine nucleotide exchange factor 4 gene DOID:9007730 Burns treatment ISO RGD:621886 D RGD:9068941 20200609 RGD PMID:24973766|REF_RGD_ID:9850087 11758202 IL17RD interleukin 17 receptor D gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1353408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25636053|PMID:25741868|PMID:28492532|PMID:32389901 11758202 IL17RD interleukin 17 receptor D gene DOID:0060857 septooptic dysplasia ISO RGD:1353408 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence PMID:28492532|PMID:32796691 11758202 IL17RD interleukin 17 receptor D gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1353408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11758202 IL17RD interleukin 17 receptor D gene DOID:0090076 hypogonadotropic hypogonadism 18 with or without anosmia ISO RGD:1353408 D RGD:7240710 20180130 OMIM 11758202 IL17RD interleukin 17 receptor D gene DOID:0090076 hypogonadotropic hypogonadism 18 with or without anosmia ISO RGD:1353408 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 18 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 18 with or without anosmia PMID:23643382|PMID:25636053|PMID:25741868|PMID:28492532 11758202 IL17RD interleukin 17 receptor D gene DOID:1924 hypogonadism ISO RGD:1353408 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypogonadism PMID:25741868 11758202 IL17RD interleukin 17 receptor D gene DOID:630 genetic disease ISO RGD:1353408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758202 IL17RD interleukin 17 receptor D gene DOID:9000998 Brain Injuries ISO RGD:1353408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 11758202 IL17RD interleukin 17 receptor D gene DOID:9001239 Delayed Puberty ISO RGD:1353408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Delayed puberty PMID:23643382|PMID:25636053|PMID:25741868|PMID:28492532|PMID:32389901 11758202 IL17RD interleukin 17 receptor D gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16474841 11758202 IL17RD interleukin 17 receptor D gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1353408 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 11758219 PDLIM7 PDZ and LIM domain 7 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1606830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11758219 PDLIM7 PDZ and LIM domain 7 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1606830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11758219 PDLIM7 PDZ and LIM domain 7 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1606830 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 11758219 PDLIM7 PDZ and LIM domain 7 gene DOID:630 genetic disease ISO RGD:1606830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758219 PDLIM7 PDZ and LIM domain 7 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1606830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11758246 PARP10 poly(ADP-ribose) polymerase family member 10 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1348193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11758246 PARP10 poly(ADP-ribose) polymerase family member 10 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1348193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11758246 PARP10 poly(ADP-ribose) polymerase family member 10 gene DOID:4621 holoprosencephaly ISO RGD:1348193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11758246 PARP10 poly(ADP-ribose) polymerase family member 10 gene DOID:630 genetic disease ISO RGD:1348193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758246 PARP10 poly(ADP-ribose) polymerase family member 10 gene DOID:9008086 Developmental Disabilities ISO RGD:1348193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:25741868 11758263 ATP5PF ATP synthase peripheral stalk subunit F6 gene DOID:10652 Alzheimer's disease ISO RGD:735304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562|PMID:25741868 11758263 ATP5PF ATP synthase peripheral stalk subunit F6 gene DOID:10825 essential hypertension ISO RGD:735304 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:14654753|REF_RGD_ID:13800915 11758263 ATP5PF ATP synthase peripheral stalk subunit F6 gene DOID:114 heart disease ISO RGD:735304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 11758263 ATP5PF ATP synthase peripheral stalk subunit F6 gene DOID:630 genetic disease ISO RGD:735304 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758263 ATP5PF ATP synthase peripheral stalk subunit F6 gene DOID:6432 pulmonary hypertension ISO RGD:621376 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung, plasma (rat) PMID:27916219|REF_RGD_ID:13800892 11758263 ATP5PF ATP synthase peripheral stalk subunit F6 gene DOID:6432 pulmonary hypertension treatment ISO RGD:621376 D RGD:9068941 20200609 RGD PMID:27491388|REF_RGD_ID:13800894 11758263 ATP5PF ATP synthase peripheral stalk subunit F6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11758263 ATP5PF ATP synthase peripheral stalk subunit F6 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:621376 D RGD:9068941 20200609 RGD associated with hypertension;protein:increased expression:heart left ventricle (rat) PMID:25900768|REF_RGD_ID:11085539 11758263 ATP5PF ATP synthase peripheral stalk subunit F6 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:621376 D RGD:9068941 20200609 RGD PMID:28731155|REF_RGD_ID:13800891 11758263 ATP5PF ATP synthase peripheral stalk subunit F6 gene DOID:9008691 Liver Injury ISO RGD:621376 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:25772430|REF_RGD_ID:13800895 11758282 GCAT glycine C-acetyltransferase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11758282 GCAT glycine C-acetyltransferase gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1316396 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11758282 GCAT glycine C-acetyltransferase gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1316396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11758282 GCAT glycine C-acetyltransferase gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1316396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11758282 GCAT glycine C-acetyltransferase gene DOID:630 genetic disease ISO RGD:1316396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758282 GCAT glycine C-acetyltransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11758307 TRAF3IP2 TRAF3 interacting protein 2 gene DOID:0111287 psoriasis 13 ISO RGD:1312403 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Psoriasis 13, susceptibility to PMID:20953186|PMID:20953188|PMID:22581863|PMID:24033266|PMID:24120361|PMID:25741868|PMID:28492532 11758307 TRAF3IP2 TRAF3 interacting protein 2 gene DOID:0111287 psoriasis 13 susceptibility ISO RGD:1312403 D RGD:7240710 20230517 OMIM 11758307 TRAF3IP2 TRAF3 interacting protein 2 gene DOID:12894 Sjogren's syndrome ISO RGD:1312404 D RGD:9068941 20220825 MouseDO OMIM:270150 11758307 TRAF3IP2 TRAF3 interacting protein 2 gene DOID:3310 atopic dermatitis ISO RGD:1312404 D RGD:9068941 20220825 MouseDO OMIM:603165 11758307 TRAF3IP2 TRAF3 interacting protein 2 gene DOID:630 genetic disease ISO RGD:1312403 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11758307 TRAF3IP2 TRAF3 interacting protein 2 gene DOID:8893 psoriasis ISO RGD:1312403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953186|PMID:20953188|PMID:20953190 11758307 TRAF3IP2 TRAF3 interacting protein 2 gene DOID:9003552 Candidiasis, Familial, 8 ISO RGD:1312403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 8 PMID:16199547|PMID:17576681|PMID:20953186|PMID:20953188|PMID:22513239|PMID:22581863|PMID:24033266|PMID:24120361|PMID:25741868|PMID:28492532|PMID:9536098 11758307 TRAF3IP2 TRAF3 interacting protein 2 gene DOID:9003552 Candidiasis, Familial, 8 susceptibility ISO RGD:1312403 D RGD:7240710 20230517 OMIM 11758307 TRAF3IP2 TRAF3 interacting protein 2 gene DOID:9006779 Discoid Lupus Erythematosus ISO RGD:1312403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Discoid lupus erythematosus PMID:25741868 11758307 TRAF3IP2 TRAF3 interacting protein 2 gene DOID:9008 psoriatic arthritis ISO RGD:1312403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953186|PMID:20953188 11758307 TRAF3IP2 TRAF3 interacting protein 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:1312404 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 11758378 TGIF2LX TGFB induced factor homeobox 2 like X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11758378 TGIF2LX TGFB induced factor homeobox 2 like X-linked gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1351295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:25741868 11758378 TGIF2LX TGFB induced factor homeobox 2 like X-linked gene DOID:12849 autistic disorder ISO RGD:1351295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11758378 TGIF2LX TGFB induced factor homeobox 2 like X-linked gene DOID:630 genetic disease ISO RGD:1351295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758384 TDP2 tyrosyl-DNA phosphodiesterase 2 gene DOID:0050753 cerebellar ataxia ISO RGD:1348894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia 11758384 TDP2 tyrosyl-DNA phosphodiesterase 2 gene DOID:0111613 autosomal recessive spinocerebellar ataxia 23 ISO RGD:1348894 D RGD:7240710 20190315 OMIM 11758384 TDP2 tyrosyl-DNA phosphodiesterase 2 gene DOID:0111613 autosomal recessive spinocerebellar ataxia 23 ISO RGD:1348894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency PMID:24658003|PMID:25741868|PMID:30109272 11758384 TDP2 tyrosyl-DNA phosphodiesterase 2 gene DOID:630 genetic disease ISO RGD:1348894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758384 TDP2 tyrosyl-DNA phosphodiesterase 2 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1348894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11758395 RPS11 ribosomal protein S11 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:733888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11758395 RPS11 ribosomal protein S11 gene DOID:630 genetic disease ISO RGD:733888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758405 APEX2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:0060063 sideroblastic anemia 1 ISO RGD:1350631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia, sideroblastic, 1 11758405 APEX2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11758405 APEX2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1350631 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 11758405 APEX2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:12849 autistic disorder ISO RGD:1350631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11758405 APEX2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:630 genetic disease ISO RGD:1350631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758418 SEC16A SEC16 homolog A, endoplasmic reticulum export factor gene DOID:0050777 Joubert syndrome ISO RGD:1354294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11758418 SEC16A SEC16 homolog A, endoplasmic reticulum export factor gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1354294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11758418 SEC16A SEC16 homolog A, endoplasmic reticulum export factor gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1354294 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11758418 SEC16A SEC16 homolog A, endoplasmic reticulum export factor gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1354294 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11758418 SEC16A SEC16 homolog A, endoplasmic reticulum export factor gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1354294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11758418 SEC16A SEC16 homolog A, endoplasmic reticulum export factor gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1354294 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11758418 SEC16A SEC16 homolog A, endoplasmic reticulum export factor gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1354294 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11758418 SEC16A SEC16 homolog A, endoplasmic reticulum export factor gene DOID:0081097 Rafiq syndrome ISO RGD:1354294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11758418 SEC16A SEC16 homolog A, endoplasmic reticulum export factor gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1354294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 11758418 SEC16A SEC16 homolog A, endoplasmic reticulum export factor gene DOID:1826 epilepsy ISO RGD:1354294 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11758418 SEC16A SEC16 homolog A, endoplasmic reticulum export factor gene DOID:3652 Leigh disease ISO RGD:1354294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11758418 SEC16A SEC16 homolog A, endoplasmic reticulum export factor gene DOID:630 genetic disease ISO RGD:1354294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758418 SEC16A SEC16 homolog A, endoplasmic reticulum export factor gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1354294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 11758473 RPL27 ribosomal protein L27 gene DOID:0111893 Diamond-Blackfan anemia 16 ISO RGD:735597 D RGD:7240710 20190315 OMIM 11758473 RPL27 ribosomal protein L27 gene DOID:0111893 Diamond-Blackfan anemia 16 ISO RGD:735597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 16 PMID:25424902|PMID:25741868|PMID:28492532 11758473 RPL27 ribosomal protein L27 gene DOID:630 genetic disease ISO RGD:735597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758483 TLL2 tolloid like 2 gene DOID:12377 spinal muscular atrophy ISO RGD:1312462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy PMID:25741868 11758483 TLL2 tolloid like 2 gene DOID:630 genetic disease ISO RGD:1312462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758508 CAMK1D calcium/calmodulin dependent protein kinase ID gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1603628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11758508 CAMK1D calcium/calmodulin dependent protein kinase ID gene DOID:1070 primary open angle glaucoma ISO RGD:1603628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:28492532 11758508 CAMK1D calcium/calmodulin dependent protein kinase ID gene DOID:630 genetic disease ISO RGD:1603628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758524 RPS26 ribosomal protein S26 gene DOID:0111888 Diamond-Blackfan anemia 10 ISO RGD:1344988 D RGD:7240710 20180130 OMIM 11758524 RPS26 ribosomal protein S26 gene DOID:0111888 Diamond-Blackfan anemia 10 ISO RGD:1344988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 PMID:16199547|PMID:17483715|PMID:17576681|PMID:19816270|PMID:20116044|PMID:21414820|PMID:22045982|PMID:22381658|PMID:22689679|PMID:23718193|PMID:23812780|PMID:24675553|PMID:24942156|PMID:25741868|PMID:26136524|PMID:28102861|PMID:28492532|PMID:29114930|PMID:9536098 11758524 RPS26 ribosomal protein S26 gene DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ISO RGD:1344988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis PMID:17483715|PMID:19816270|PMID:20116044|PMID:23718193|PMID:24675553|PMID:24942156|PMID:28492532 11758524 RPS26 ribosomal protein S26 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1344988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:19816270|PMID:20116044|PMID:22381658|PMID:23718193|PMID:24675553|PMID:24942156|PMID:25741868|PMID:26136524|PMID:26604301|PMID:27329125|PMID:28102861|PMID:28492532 11758524 RPS26 ribosomal protein S26 gene DOID:2355 anemia ISO RGD:1344988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia PMID:32581362 11758524 RPS26 ribosomal protein S26 gene DOID:4961 bone marrow disease ISO RGD:1344988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone marrow hypocellularity PMID:25741868 11758524 RPS26 ribosomal protein S26 gene DOID:9000217 Stomach Neoplasms ISO RGD:1344988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11758524 RPS26 ribosomal protein S26 gene DOID:9000918 Disease Progression ISO RGD:1344988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11758532 MCPH1 microcephalin 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1349111 D RGD:9068941 20200609 RGD mRNA:protein:decreased expression:oral cavity, tissue (human) PMID:23472065|REF_RGD_ID:9589036 11758532 MCPH1 microcephalin 1 gene DOID:0070285 primary autosomal recessive microcephaly 1 ISO RGD:1349111 D RGD:7240710 20180130 OMIM 11758532 MCPH1 microcephalin 1 gene DOID:0070285 primary autosomal recessive microcephaly 1 ISO RGD:1349111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:11857108|PMID:12046007|PMID:15199523|PMID:16199547|PMID:16311745|PMID:16783362|PMID:18414213|PMID:20101680|PMID:20301772|PMID:20949544|PMID:20978018|PMID:22139841|PMID:22154951|PMID:22908299|PMID:23281133|PMID:25741868|PMID:26467025|PMID:26539891|PMID:28492532|PMID:32714618|PMID:34402213|PMID:7693575 11758532 MCPH1 microcephalin 1 gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:1349111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive primary microcephaly PMID:25741868|PMID:28492532 11758532 MCPH1 microcephalin 1 gene DOID:1059 intellectual disability ISO RGD:1349111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20949544|PMID:25741868|PMID:26467025|PMID:28492532 11758532 MCPH1 microcephalin 1 gene DOID:10907 microcephaly ISO RGD:1349111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive PMID:25741868 11758532 MCPH1 microcephalin 1 gene DOID:10907 microcephaly no_association ISO RGD:1349111 D RGD:9068941 20200609 RGD DNA:SNP: :c.940G>C (g.37995G>C) (human) PMID:19267414|REF_RGD_ID:13204744 11758532 MCPH1 microcephalin 1 gene DOID:1380 endometrial cancer ISO RGD:1349111 D RGD:9068941 20200609 RGD DNA:deletions:exons:multiple (human) PMID:20638839|REF_RGD_ID:9589018 11758532 MCPH1 microcephalin 1 gene DOID:1612 breast cancer severity ISO RGD:1349111 D RGD:9068941 20200609 RGD DNA:silent mutation, missense mutation:cds:p.S742, p.A761V (rs2912010, rs1057090) (human) PMID:23296058|REF_RGD_ID:9589038 11758532 MCPH1 microcephalin 1 gene DOID:4451 renal carcinoma ISO RGD:1349111 D RGD:9068941 20200609 RGD protein:decreased expression:kidney (human) PMID:25197360|REF_RGD_ID:9589037 11758532 MCPH1 microcephalin 1 gene DOID:630 genetic disease ISO RGD:1349111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 11758532 MCPH1 microcephalin 1 gene DOID:9000037 Lymphatic Malformation 10 ISO RGD:1349111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 10 PMID:32908006 11758532 MCPH1 microcephalin 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1349111 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary (human) PMID:16872911|REF_RGD_ID:9589035 11758532 MCPH1 microcephalin 1 gene DOID:9002762 Ovarian Neoplasms severity ISO RGD:1349111 D RGD:9068941 20200609 RGD protein:decreased expression:ovary, nucleus PMID:24830737|REF_RGD_ID:13204746 11758532 MCPH1 microcephalin 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1349111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11758532 MCPH1 microcephalin 1 gene DOID:9007661 Dwarfism ISO RGD:1349111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:26467025|PMID:28492532|PMID:32714618 11758532 MCPH1 microcephalin 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1349111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 11758532 MCPH1 microcephalin 1 gene DOID:9008939 Breast Neoplasms severity ISO RGD:1349111 D RGD:9068941 20200609 RGD protein:decreased expression:breast (human) PMID:20632086|REF_RGD_ID:9589027 11758565 FN3KRP fructosamine 3 kinase related protein gene DOID:630 genetic disease ISO RGD:1606224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758575 FLRT2 fibronectin leucine rich transmembrane protein 2 gene DOID:1059 intellectual disability ISO RGD:1318426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11758575 FLRT2 fibronectin leucine rich transmembrane protein 2 gene DOID:630 genetic disease ISO RGD:1318426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758604 PLK4 polo like kinase 4 gene DOID:0080105 microcephaly and chorioretinopathy 1 ISO RGD:1313392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11758604 PLK4 polo like kinase 4 gene DOID:0080106 microcephaly and chorioretinopathy 2 ISO RGD:1313392 D RGD:7240710 20180130 OMIM 11758604 PLK4 polo like kinase 4 gene DOID:0080106 microcephaly and chorioretinopathy 2 ISO RGD:1313392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 2 PMID:17576681|PMID:25320347|PMID:25344692|PMID:25741868|PMID:28492532|PMID:30842647|PMID:9536098 11758604 PLK4 polo like kinase 4 gene DOID:0110722 neuronal ceroid lipofuscinosis 7 ISO RGD:1313392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 PMID:19177532|PMID:28492532 11758604 PLK4 polo like kinase 4 gene DOID:10907 microcephaly ISO RGD:1313392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11758604 PLK4 polo like kinase 4 gene DOID:219 colon cancer ISO RGD:1313392 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:26439168|REF_RGD_ID:11075990 11758604 PLK4 polo like kinase 4 gene DOID:3007 breast ductal carcinoma ISO RGD:1313392 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:26439168|REF_RGD_ID:11075990 11758604 PLK4 polo like kinase 4 gene DOID:630 genetic disease ISO RGD:1313392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11758604 PLK4 polo like kinase 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1313392 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:21324136|REF_RGD_ID:27226690 11758604 PLK4 polo like kinase 4 gene DOID:684 hepatocellular carcinoma sexual_dimorphism ISO RGD:1313393 D RGD:9068941 20200609 RGD PMID:21324136|REF_RGD_ID:27226690 11758604 PLK4 polo like kinase 4 gene DOID:9002525 Hereditary Eye Diseases ISO RGD:1313392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25344692 11758604 PLK4 polo like kinase 4 gene DOID:9007661 Dwarfism ISO RGD:1313392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25344692 11758632 OBI1 ORC ubiquitin ligase 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1354147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11758632 OBI1 ORC ubiquitin ligase 1 gene DOID:630 genetic disease ISO RGD:1354147 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758649 FASN fatty acid synthase gene DOID:0060041 autism spectrum disorder ISO RGD:1347691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:28492532|PMID:30504930 11758649 FASN fatty acid synthase gene DOID:1059 intellectual disability ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11758649 FASN fatty acid synthase gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 11758649 FASN fatty acid synthase gene DOID:12930 dilated cardiomyopathy ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 11758649 FASN fatty acid synthase gene DOID:14566 disease of cellular proliferation ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20373869 11758649 FASN fatty acid synthase gene DOID:1826 epilepsy ISO RGD:1347691 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11758649 FASN fatty acid synthase gene DOID:1909 melanoma ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18770866|PMID:20805790|PMID:21213365 11758649 FASN fatty acid synthase gene DOID:3382 liposarcoma ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20372807 11758649 FASN fatty acid synthase gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29379198 11758649 FASN fatty acid synthase gene DOID:3910 lung adenocarcinoma ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11758649 FASN fatty acid synthase gene DOID:6000 congestive heart failure ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 11758649 FASN fatty acid synthase gene DOID:630 genetic disease ISO RGD:1347691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11758649 FASN fatty acid synthase gene DOID:684 hepatocellular carcinoma ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563831|PMID:15543204|PMID:21147110 11758649 FASN fatty acid synthase gene DOID:783 end stage renal disease ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 11758649 FASN fatty acid synthase gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23305094 11758649 FASN fatty acid synthase gene DOID:9001793 Generalized Epilepsy ISO RGD:1347691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:17576681|PMID:21937992|PMID:25741868|PMID:28166811|PMID:28492532|PMID:28714951|PMID:30504930|PMID:9536098 11758649 FASN fatty acid synthase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21442130 11758649 FASN fatty acid synthase gene DOID:9006205 Animal Disease Models ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11758649 FASN fatty acid synthase gene DOID:9006646 Metabolic Syndrome ISO RGD:1615200 D RGD:9068941 20230427 RGD mRNA:increased expression:liver (mouse) PMID:29684438|REF_RGD_ID:329333017 11758649 FASN fatty acid synthase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11758649 FASN fatty acid synthase gene DOID:9008939 Breast Neoplasms ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17089011|PMID:18281512 11758649 FASN fatty acid synthase gene DOID:9009121 lung metastasis ISO RGD:1347691 D RGD:9068941 20210423 RGD associated with head and neck squamous cell carcinoma PMID:20604875|REF_RGD_ID:126790467 11758649 FASN fatty acid synthase gene DOID:9256 colorectal cancer ISO RGD:1347691 D RGD:9068941 20220908 RGD mRNA,protein:increased expression:colorectum: PMID:32525817|REF_RGD_ID:153350127 11758649 FASN fatty acid synthase gene DOID:9970 obesity ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 11758696 LAGE3 L antigen family member 3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1602901 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11758696 LAGE3 L antigen family member 3 gene DOID:0050476 Barth syndrome ISO RGD:1602901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11758696 LAGE3 L antigen family member 3 gene DOID:0050800 creatine transporter deficiency ISO RGD:1602901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11758696 LAGE3 L antigen family member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11758696 LAGE3 L antigen family member 3 gene DOID:0080244 Galloway-Mowat syndrome 2 ISO RGD:1602901 D RGD:7240710 20190315 OMIM 11758696 LAGE3 L antigen family member 3 gene DOID:0080244 Galloway-Mowat syndrome 2 ISO RGD:1602901 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked PMID:12693786|PMID:25741868|PMID:28492532|PMID:28805828 11758696 LAGE3 L antigen family member 3 gene DOID:0080694 Galloway-Mowat syndrome ISO RGD:1602901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28805828 11758696 LAGE3 L antigen family member 3 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1602901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 11758696 LAGE3 L antigen family member 3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1602901 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11758696 LAGE3 L antigen family member 3 gene DOID:10588 adrenoleukodystrophy ISO RGD:1602901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11758696 LAGE3 L antigen family member 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1602901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11758696 LAGE3 L antigen family member 3 gene DOID:12849 autistic disorder ISO RGD:1602901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11758696 LAGE3 L antigen family member 3 gene DOID:13628 favism ISO RGD:1602901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11758696 LAGE3 L antigen family member 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1602901 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11758696 LAGE3 L antigen family member 3 gene DOID:607 paraplegia ISO RGD:1602901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11758696 LAGE3 L antigen family member 3 gene DOID:630 genetic disease ISO RGD:1602901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11758696 LAGE3 L antigen family member 3 gene DOID:9002720 Splenomegaly ISO RGD:1602901 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11758703 SEPTIN11 septin 11 gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:1349067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia PMID:25741868|PMID:31673878 11758703 SEPTIN11 septin 11 gene DOID:14749 methylmalonic acidemia ISO RGD:1349067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 11758703 SEPTIN11 septin 11 gene DOID:630 genetic disease ISO RGD:1349067 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758703 SEPTIN11 septin 11 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1349067 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11758735 ZNF441 zinc finger protein 441 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1350882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11758735 ZNF441 zinc finger protein 441 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1350882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11758735 ZNF441 zinc finger protein 441 gene DOID:0111254 glutaric acidemia I ISO RGD:1350882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11758735 ZNF441 zinc finger protein 441 gene DOID:3413 alpha-mannosidosis ISO RGD:1350882 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11758735 ZNF441 zinc finger protein 441 gene DOID:630 genetic disease ISO RGD:1350882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758747 DDX4 DEAD-box helicase 4 gene DOID:630 genetic disease ISO RGD:1318770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758747 DDX4 DEAD-box helicase 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11758776 CCDC93 coiled-coil domain containing 93 gene DOID:630 genetic disease ISO RGD:1603642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758822 GSTM5 glutathione S-transferase mu 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1343128 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11758822 GSTM5 glutathione S-transferase mu 5 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1343128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11758822 GSTM5 glutathione S-transferase mu 5 gene DOID:12849 autistic disorder ISO RGD:1343128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11758822 GSTM5 glutathione S-transferase mu 5 gene DOID:1289 neurodegenerative disease ISO RGD:1343128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 11758822 GSTM5 glutathione S-transferase mu 5 gene DOID:630 genetic disease ISO RGD:1343128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758822 GSTM5 glutathione S-transferase mu 5 gene DOID:9002928 Colonic Neoplasms ISO RGD:1343128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 11758838 LOC100993532 cytochrome c oxidase assembly protein COX15 homolog gene DOID:0050700 cardiomyopathy ISO RGD:1323821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 11758838 LOC100993532 cytochrome c oxidase assembly protein COX15 homolog gene DOID:0080357 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 ISO RGD:1323821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11758838 LOC100993532 cytochrome c oxidase assembly protein COX15 homolog gene DOID:0080358 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 ISO RGD:1323821 D RGD:7240710 20180130 OMIM 11758838 LOC100993532 cytochrome c oxidase assembly protein COX15 homolog gene DOID:0080358 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 ISO RGD:1323821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 PMID:12474143|PMID:15235026|PMID:15863660|PMID:17576681|PMID:21412973|PMID:2175025|PMID:22310368|PMID:25741868|PMID:26940873|PMID:26959537|PMID:28492532|PMID:31967322|PMID:32232962|PMID:33746038|PMID:9536098 11758838 LOC100993532 cytochrome c oxidase assembly protein COX15 homolog gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1323821 D RGD:9068941 20200609 RGD PMID:12474143|REF_RGD_ID:1598468 11758838 LOC100993532 cytochrome c oxidase assembly protein COX15 homolog gene DOID:3652 Leigh disease ISO RGD:1323821 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:12474143|PMID:15863660|PMID:17576681|PMID:21412973|PMID:22310368|PMID:25741868|PMID:26959537|PMID:28492532|PMID:32232962|PMID:33746038|PMID:9536098 11758838 LOC100993532 cytochrome c oxidase assembly protein COX15 homolog gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1323821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:28492532 11758838 LOC100993532 cytochrome c oxidase assembly protein COX15 homolog gene DOID:630 genetic disease ISO RGD:1323821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12474143|PMID:15235026|PMID:21412973|PMID:2175025|PMID:25741868|PMID:26940873|PMID:28492532|PMID:31967322|PMID:32232962 11758856 SPACA4 sperm acrosome associated 4 gene DOID:630 genetic disease ISO RGD:1343720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758861 HPCAL4 hippocalcin like 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1348718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11758861 HPCAL4 hippocalcin like 4 gene DOID:630 genetic disease ISO RGD:1348718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758882 CCDC103 coiled-coil domain containing 103 gene DOID:0050144 Kartagener syndrome ISO RGD:1602038 D RGD:9068941 20221013 CTD CTD Direct Evidence: marker/mechanism PMID:22581229 11758882 CCDC103 coiled-coil domain containing 103 gene DOID:0110621 primary ciliary dyskinesia 17 ISO RGD:1602038 D RGD:7240710 20180130 OMIM 11758882 CCDC103 coiled-coil domain containing 103 gene DOID:0110621 primary ciliary dyskinesia 17 ISO RGD:1602038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 17 PMID:22581229|PMID:23891469|PMID:24033266|PMID:24357714|PMID:25326635|PMID:25741868|PMID:26123568|PMID:27637300|PMID:28492532|PMID:28790179|PMID:30067075 11758882 CCDC103 coiled-coil domain containing 103 gene DOID:5223 infertility ISO RGD:1602038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infertility PMID:22581229|PMID:23891469|PMID:24033266|PMID:24357714|PMID:25326635|PMID:25741868|PMID:26123568|PMID:27637300|PMID:28492532|PMID:28790179|PMID:30067075 11758882 CCDC103 coiled-coil domain containing 103 gene DOID:630 genetic disease ISO RGD:1602038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758882 CCDC103 coiled-coil domain containing 103 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1602038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:17576681|PMID:22581229|PMID:23891469|PMID:24033266|PMID:24357714|PMID:25326635|PMID:25741868|PMID:26123568|PMID:27637300|PMID:28492532|PMID:28790179|PMID:30067075|PMID:9536098 11758933 ARRDC1 arrestin domain containing 1 gene DOID:0050777 Joubert syndrome ISO RGD:1320585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11758933 ARRDC1 arrestin domain containing 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1320585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 11758933 ARRDC1 arrestin domain containing 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1320585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 11758933 ARRDC1 arrestin domain containing 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1320585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11758933 ARRDC1 arrestin domain containing 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1320585 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11758933 ARRDC1 arrestin domain containing 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1320585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11758933 ARRDC1 arrestin domain containing 1 gene DOID:1826 epilepsy ISO RGD:1320585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11758933 ARRDC1 arrestin domain containing 1 gene DOID:630 genetic disease ISO RGD:1320585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758933 ARRDC1 arrestin domain containing 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1320585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11758958 ATP2B1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:10763 hypertension ISO RGD:621303 D RGD:9068941 20200609 RGD mRNA:increased expression:vascular associated smooth muscle cell PMID:20137670|REF_RGD_ID:2317726 11758958 ATP2B1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:10763 hypertension ISO RGD:732984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19430479 11758958 ATP2B1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:11836 clubfoot ISO RGD:732984 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:25741868 11758958 ATP2B1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:3393 coronary artery disease ISO RGD:732984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22751097 11758958 ATP2B1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:630 genetic disease ISO RGD:732984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758958 ATP2B1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:83 cataract ISO RGD:732984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15003327 11758958 ATP2B1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:9001141 Autosomal Dominant Intellectual Developmental Disorder 66 ISO RGD:732984 D RGD:7240710 20220629 OMIM 11758958 ATP2B1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:9001141 Autosomal Dominant Intellectual Developmental Disorder 66 ISO RGD:732984 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 66 PMID:25741868|PMID:35358416 11758958 ATP2B1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732984 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:35358416 11758995 SDC1 syndecan 1 gene DOID:0080600 COVID-19 ISO RGD:730864 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11758995 SDC1 syndecan 1 gene DOID:1168 familial hyperlipidemia ISO RGD:3648 D RGD:9068941 20200609 RGD PMID:17403197|REF_RGD_ID:1643125 11758995 SDC1 syndecan 1 gene DOID:1790 malignant mesothelioma ISO RGD:730864 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27032653 11758995 SDC1 syndecan 1 gene DOID:2843 long QT syndrome ISO RGD:730864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11758995 SDC1 syndecan 1 gene DOID:3910 lung adenocarcinoma ISO RGD:730864 D RGD:9068941 20220812 RGD mRNA:increased expression:lung (human) PMID:23374247|REF_RGD_ID:151708716 11758995 SDC1 syndecan 1 gene DOID:4195 hyperglycemia ISO RGD:730864 D RGD:9068941 20200609 RGD protein:decreased expression:blood vessel endothelial cell PMID:16810465|REF_RGD_ID:1643127 11758995 SDC1 syndecan 1 gene DOID:576 proteinuria ISO RGD:3648 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:glomerulus PMID:16622173|REF_RGD_ID:1643128 11758995 SDC1 syndecan 1 gene DOID:5844 myocardial infarction ISO RGD:3648 D RGD:9068941 20200609 RGD mRNA:increased expression:myocardium PMID:9237025|REF_RGD_ID:2311712 11758995 SDC1 syndecan 1 gene DOID:630 genetic disease ISO RGD:730864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11758995 SDC1 syndecan 1 gene DOID:8567 Hodgkin's lymphoma ISO RGD:730864 D RGD:9068941 20200609 RGD protein:altered expression:tumor (human) PMID:9746758|REF_RGD_ID:9743928 11758995 SDC1 syndecan 1 gene DOID:9000242 Lymphoma, AIDS-Related ISO RGD:730864 D RGD:9068941 20200609 RGD protein:altered expression:tumor (human) PMID:11157493|REF_RGD_ID:9743929 11758995 SDC1 syndecan 1 gene DOID:9005372 Inflammation ISO RGD:3648 D RGD:9068941 20200609 RGD protein:decreased glycosylation:gastrointestinal system mesentery, venule PMID:14704229|REF_RGD_ID:1643133 11758995 SDC1 syndecan 1 gene DOID:9970 obesity ISO RGD:3648 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11522680|REF_RGD_ID:1643129 11759008 SHMT1 serine hydroxymethyltransferase 1 gene DOID:0050777 Joubert syndrome ISO RGD:1323770 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11759008 SHMT1 serine hydroxymethyltransferase 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1323770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17119116 11759008 SHMT1 serine hydroxymethyltransferase 1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1323770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 11759008 SHMT1 serine hydroxymethyltransferase 1 gene DOID:0080600 COVID-19 ISO RGD:1323770 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11759008 SHMT1 serine hydroxymethyltransferase 1 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1323770 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 11759008 SHMT1 serine hydroxymethyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:1323770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11759008 SHMT1 serine hydroxymethyltransferase 1 gene DOID:1612 breast cancer resistance ISO RGD:1323770 D RGD:9068941 20200609 RGD DNA:SNP:CDS:rs1979276, T allele associated with 0.56x reduction in risk PMID:17896178|REF_RGD_ID:2300321 11759008 SHMT1 serine hydroxymethyltransferase 1 gene DOID:2394 ovarian cancer ISO RGD:1323770 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17031801|REF_RGD_ID:2300329 11759008 SHMT1 serine hydroxymethyltransferase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1323770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11759008 SHMT1 serine hydroxymethyltransferase 1 gene DOID:630 genetic disease ISO RGD:1323770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759008 SHMT1 serine hydroxymethyltransferase 1 gene DOID:863 nervous system disease ISO RGD:1323770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 11759008 SHMT1 serine hydroxymethyltransferase 1 gene DOID:9006205 Animal Disease Models ISO RGD:1323770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11759008 SHMT1 serine hydroxymethyltransferase 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1323770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 11759008 SHMT1 serine hydroxymethyltransferase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1323770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17595805 11759008 SHMT1 serine hydroxymethyltransferase 1 gene DOID:9008939 Breast Neoplasms no_association ISO RGD:1323770 D RGD:9068941 20200609 RGD DNA:SNP:CDS:no association between SNP rs1979277, rs1979276 or rs3783 and susceptibility to breast cancer PMID:17311260|REF_RGD_ID:2300328 11759008 SHMT1 serine hydroxymethyltransferase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:25227144 11759028 SEC31A SEC31 homolog A, COPII coat complex component gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1350188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22474449 11759028 SEC31A SEC31 homolog A, COPII coat complex component gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1350188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 11759028 SEC31A SEC31 homolog A, COPII coat complex component gene DOID:630 genetic disease ISO RGD:1350188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11759028 SEC31A SEC31 homolog A, COPII coat complex component gene DOID:9004325 Halperin-Birk Syndrome ISO RGD:1350188 D RGD:7240710 20200122 OMIM 11759028 SEC31A SEC31 homolog A, COPII coat complex component gene DOID:9004325 Halperin-Birk Syndrome ISO RGD:1350188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies PMID:25741868|PMID:30464055 11759059 GRAMD2B GRAM domain containing 2B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604604 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11759059 GRAMD2B GRAM domain containing 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11759059 GRAMD2B GRAM domain containing 2B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604604 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11759092 SELENOV selenoprotein V gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1603489 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11759092 SELENOV selenoprotein V gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11759092 SELENOV selenoprotein V gene DOID:1342 congenital hypoplastic anemia ISO RGD:1603489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11759092 SELENOV selenoprotein V gene DOID:2340 craniosynostosis ISO RGD:1603489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11759092 SELENOV selenoprotein V gene DOID:630 genetic disease ISO RGD:1603489 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759092 SELENOV selenoprotein V gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1603489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11759092 SELENOV selenoprotein V gene DOID:9269 maple syrup urine disease ISO RGD:1603489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11759092 SELENOV selenoprotein V gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603489 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11759110 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:11870 Pick's disease ISO RGD:732805 D RGD:9068941 20200609 RGD PMID:12392790|REF_RGD_ID:7495833 11759110 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:1205 allergic disease ISO RGD:732805 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21544193 11759110 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:397 restrictive cardiomyopathy ISO RGD:732805 D RGD:9068941 20200609 RGD PMID:11593045|REF_RGD_ID:1302548 11759110 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:732805 D RGD:9068941 20200609 RGD expression inhibits metastatic colonization of secondary sites by cancer cells in the SKOV3ip.1 cell line model system PMID:16489030|REF_RGD_ID:2293338 11759110 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:4362 cervical cancer ISO RGD:732805 D RGD:9068941 20200609 RGD PMID:20980434|REF_RGD_ID:7495806 11759110 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:630 genetic disease ISO RGD:732805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759110 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:678 progressive supranuclear palsy ISO RGD:732805 D RGD:9068941 20200609 RGD PMID:12392790|REF_RGD_ID:7495833 11759110 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:8634 prostate carcinoma in situ disease_progression ISO RGD:732805 D RGD:9068941 20200609 RGD protein:increased expression PMID:17577251|REF_RGD_ID:2293334 11759110 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:9000197 Edema ISO RGD:732805 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21544193 11759110 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1313499 D RGD:9068941 20200609 RGD PMID:17016428|REF_RGD_ID:7495832 11759110 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:9000774 Brain Death ISO RGD:620666 D RGD:9068941 20200609 RGD PMID:23157661|REF_RGD_ID:7495829 11759110 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1552419 D RGD:9068941 20200609 RGD protein:increased expression:tumor:increased in high-grade prostatic intraepithelial neoplasias and tumor tissues (p<0.0001) PMID:17577251|REF_RGD_ID:2293334 11759110 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732805 D RGD:9068941 20200609 RGD protein:increased expression:tumor:increased in high-grade prostatic intraepithelial neoplasias and tumor tissues (p<0.0001) PMID:17577251|REF_RGD_ID:2293334 11759110 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732805 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32512071 11759110 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:9002304 Prostatic Neoplasms no_association ISO RGD:732805 D RGD:9068941 20200609 RGD expression has no effect on metastatic colonization of secondary sites by cancer cells in the AT6.1 model system PMID:16322247|REF_RGD_ID:2293337 11759110 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:9002928 Colonic Neoplasms ISO RGD:732805 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15037631 11759110 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:9003936 Cardiomegaly ISO RGD:1552419 D RGD:9068941 20200609 RGD PMID:12750397|PMID:15722372|REF_RGD_ID:13782145|REF_RGD_ID:1582275 11759110 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620666 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney, glomerulus PMID:11473637|REF_RGD_ID:7495813 11759110 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1552419 D RGD:9068941 20200609 RGD PMID:14749328|REF_RGD_ID:7495840 11759110 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:732805 D RGD:9068941 20200609 RGD PMID:15492008|REF_RGD_ID:1582277 11759140 MSH3 mutS homolog 3 gene DOID:0050424 familial adenomatous polyposis ISO RGD:1353031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11759140 MSH3 mutS homolog 3 gene DOID:0080199 colorectal carcinoma ISO RGD:1353031 D RGD:9068941 20200609 RGD PMID:9401011|REF_RGD_ID:1625103 11759140 MSH3 mutS homolog 3 gene DOID:0080412 familial adenomatous polyposis 4 ISO RGD:1353031 D RGD:7240710 20190315 OMIM 11759140 MSH3 mutS homolog 3 gene DOID:0080412 familial adenomatous polyposis 4 ISO RGD:1353031 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 4 | ClinVar Annotator: match by term: MSH3-related attenuated familial adenomatous polyposis PMID:11470537|PMID:16199547|PMID:17576681|PMID:20981092|PMID:21128252|PMID:22179786|PMID:23960188|PMID:25741868|PMID:26467025|PMID:27476653|PMID:28211887|PMID:28492532|PMID:28873162|PMID:28875981|PMID:28944238|PMID:29212164|PMID:29641532|PMID:31127692|PMID:31589614|PMID:32619037|PMID:32634176|PMID:33193653|PMID:34308366|PMID:8782829|PMID:9536098 11759140 MSH3 mutS homolog 3 gene DOID:1324 lung cancer ISO RGD:1353031 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:28492532 11759140 MSH3 mutS homolog 3 gene DOID:1380 endometrial cancer ISO RGD:1353031 D RGD:7240710 20190213 OMIM 11759140 MSH3 mutS homolog 3 gene DOID:2871 endometrial carcinoma ISO RGD:1353031 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:11470537|PMID:17576681|PMID:20981092|PMID:21128252|PMID:25741868|PMID:26467025|PMID:27476653|PMID:27696107|PMID:28492532|PMID:28528517|PMID:28944238|PMID:29641532|PMID:30719162|PMID:31589614|PMID:32008151|PMID:32365829|PMID:32634176|PMID:32635641|PMID:33007869|PMID:33606809|PMID:8782829|PMID:9536098 11759140 MSH3 mutS homolog 3 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1353031 D RGD:9068941 20210430 RGD DNA:SNPs: :rs6151627, rs6151670, rs7709909 (human) PMID:28093084|REF_RGD_ID:126848786 11759140 MSH3 mutS homolog 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1353031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21327329 11759140 MSH3 mutS homolog 3 gene DOID:4435 cavernous sinus meningioma ISO RGD:1353031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cavernous sinus meningioma PMID:26467025|PMID:31371350|PMID:31627758 11759140 MSH3 mutS homolog 3 gene DOID:630 genetic disease ISO RGD:1353031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759140 MSH3 mutS homolog 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1353031 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:28492532 11759140 MSH3 mutS homolog 3 gene DOID:7400 Nijmegen breakage syndrome ISO RGD:1353031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency PMID:25741868 11759140 MSH3 mutS homolog 3 gene DOID:9000027 Microsatellite Instability ISO RGD:1353031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 11759140 MSH3 mutS homolog 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18355840 11759140 MSH3 mutS homolog 3 gene DOID:9003312 Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency ISO RGD:1353031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DHFR DEFICIENCY | ClinVar Annotator: match by term: Megaloblastic anemia due to dihydrofolate reductase deficiency PMID:24033266|PMID:26467025|PMID:28492532|PMID:31371350|PMID:31627758 11759140 MSH3 mutS homolog 3 gene DOID:9004351 Digestive System Neoplasms ISO RGD:1353031 D RGD:9068941 20200609 RGD PMID:9401011|REF_RGD_ID:1625103 11759140 MSH3 mutS homolog 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11759140 MSH3 mutS homolog 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353031 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11470537|PMID:16199547|PMID:17576681|PMID:20154325|PMID:20160730|PMID:20421420|PMID:20981092|PMID:21128252|PMID:22179786|PMID:23960188|PMID:24033266|PMID:25142776|PMID:25741868|PMID:2635641|PMID:26467025|PMID:26485759|PMID:26837502|PMID:26904404|PMID:27300758|PMID:27476653|PMID:27696107|PMID:28211887|PMID:28492532|PMID:28528517|PMID:28873162|PMID:28875981|PMID:28944238|PMID:29212164|PMID:29245953|PMID:29641532|PMID:29868112|PMID:30573798|PMID:30740464|PMID:31054147|PMID:31160353|PMID:31243857|PMID:31371350|PMID:31589614|PMID:31627758|PMID:32619037|PMID:32634176|PMID:32635641|PMID:32973888|PMID:33007869|PMID:33193653|PMID:33332384|PMID:33606809|PMID:34250384|PMID:34308366|PMID:34404389|PMID:34608827|PMID:34767783|PMID:8782829|PMID:8838312|PMID:9536098 11759140 MSH3 mutS homolog 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353031 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11470537|PMID:16199547|PMID:17576681|PMID:20154325|PMID:20160730|PMID:20421420|PMID:20981092|PMID:21128252|PMID:21153778|PMID:22179786|PMID:23960188|PMID:24033266|PMID:25142776|PMID:25741868|PMID:2635641|PMID:26467025|PMID:26485759|PMID:26837502|PMID:26904404|PMID:27300758|PMID:27476653|PMID:27696107|PMID:28211887|PMID:28492532|PMID:28528517|PMID:28873162|PMID:28875981|PMID:28944238|PMID:29212164|PMID:29245953|PMID:29641532|PMID:29868112|PMID:30573798|PMID:30719162|PMID:30740464|PMID:31054147|PMID:31127692|PMID:31160353|PMID:31243857|PMID:31371350|PMID:31589614|PMID:31627758|PMID:31911633|PMID:32008151|PMID:32091409|PMID:32365829|PMID:32619037|PMID:32634176|PMID:32635641|PMID:32973888|PMID:33007869|PMID:33193653|PMID:33332384|PMID:33606809|PMID:34250384|PMID:34308366|PMID:34404389|PMID:34608827|PMID:34767783|PMID:36419139|PMID:8782829|PMID:8838312|PMID:9536098 11759140 MSH3 mutS homolog 3 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1353031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11759140 MSH3 mutS homolog 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353031 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:25227144|PMID:28492532 11759174 USP42 ubiquitin specific peptidase 42 gene DOID:630 genetic disease ISO RGD:1313136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759200 ASB18 ankyrin repeat and SOCS box containing 18 gene DOID:630 genetic disease ISO RGD:1602398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759200 ASB18 ankyrin repeat and SOCS box containing 18 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1602398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11759211 ATP6V0C ATPase H+ transporting V0 subunit c gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:731892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11759211 ATP6V0C ATPase H+ transporting V0 subunit c gene DOID:1826 epilepsy ISO RGD:731892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 11759211 ATP6V0C ATPase H+ transporting V0 subunit c gene DOID:1827 idiopathic generalized epilepsy ISO RGD:731892 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11759211 ATP6V0C ATPase H+ transporting V0 subunit c gene DOID:3963 thyroid gland carcinoma disease_progression ISO RGD:731892 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:30884810|REF_RGD_ID:14696825 11759211 ATP6V0C ATPase H+ transporting V0 subunit c gene DOID:630 genetic disease ISO RGD:731892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759218 SFT2D1 SFT2 domain containing 1 gene DOID:630 genetic disease ISO RGD:1343304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759231 ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif 9 gene DOID:12712 nephronophthisis ISO RGD:1315761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532|PMID:30609407 11759231 ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif 9 gene DOID:630 genetic disease ISO RGD:1315761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11759231 ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif 9 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1315761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18372903|PMID:23967108 11759277 SPATA6L spermatogenesis associated 6 like gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1320709 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 11759277 SPATA6L spermatogenesis associated 6 like gene DOID:630 genetic disease ISO RGD:1320709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759309 MAP3K10 mitogen-activated protein kinase kinase kinase 10 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1318115 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11759309 MAP3K10 mitogen-activated protein kinase kinase kinase 10 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1318115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11759309 MAP3K10 mitogen-activated protein kinase kinase kinase 10 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1318115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11759309 MAP3K10 mitogen-activated protein kinase kinase kinase 10 gene DOID:2340 craniosynostosis ISO RGD:1318115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11759309 MAP3K10 mitogen-activated protein kinase kinase kinase 10 gene DOID:630 genetic disease ISO RGD:1318115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759309 MAP3K10 mitogen-activated protein kinase kinase kinase 10 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1318115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11759309 MAP3K10 mitogen-activated protein kinase kinase kinase 10 gene DOID:9269 maple syrup urine disease ISO RGD:1318115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11759309 MAP3K10 mitogen-activated protein kinase kinase kinase 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1318115 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11759325 ZNF367 zinc finger protein 367 gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1316151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29581250 11759325 ZNF367 zinc finger protein 367 gene DOID:1059 intellectual disability ISO RGD:1316151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11759325 ZNF367 zinc finger protein 367 gene DOID:630 genetic disease ISO RGD:1316151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759325 ZNF367 zinc finger protein 367 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1316151 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34351699 11759325 ZNF367 zinc finger protein 367 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316151 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34351699 11759334 ANKRD29 ankyrin repeat domain 29 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1317259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 11759334 ANKRD29 ankyrin repeat domain 29 gene DOID:1059 intellectual disability ISO RGD:1317259 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11759334 ANKRD29 ankyrin repeat domain 29 gene DOID:630 genetic disease ISO RGD:1317259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759361 NINJ2 ninjurin 2 gene DOID:630 genetic disease ISO RGD:1352493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759361 NINJ2 ninjurin 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1352493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11759371 DPT dermatopontin gene DOID:10003 sensorineural hearing loss ISO RGD:1316210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27876815 11759371 DPT dermatopontin gene DOID:1540 parathyroid carcinoma ISO RGD:1316210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11759371 DPT dermatopontin gene DOID:630 genetic disease ISO RGD:1316210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759371 DPT dermatopontin gene DOID:799 varicose veins ISO RGD:1316210 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17643059 11759371 DPT dermatopontin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11759381 LOC100979946 T-cell surface glycoprotein CD3 delta chain gene DOID:0060017 CD3epsilon deficiency ISO RGD:736987 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11759381 LOC100979946 T-cell surface glycoprotein CD3 delta chain gene DOID:0060837 isolated microphthalmia 5 ISO RGD:736987 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11759381 LOC100979946 T-cell surface glycoprotein CD3 delta chain gene DOID:0080690 RASopathy ISO RGD:736987 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11759381 LOC100979946 T-cell surface glycoprotein CD3 delta chain gene DOID:0081330 glycogen storage disease Ib ISO RGD:736987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 11759381 LOC100979946 T-cell surface glycoprotein CD3 delta chain gene DOID:0110651 long QT syndrome 10 ISO RGD:736987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11759381 LOC100979946 T-cell surface glycoprotein CD3 delta chain gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:736987 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11759381 LOC100979946 T-cell surface glycoprotein CD3 delta chain gene DOID:0111971 immunodeficiency 18 ISO RGD:736987 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11759381 LOC100979946 T-cell surface glycoprotein CD3 delta chain gene DOID:0111972 immunodeficiency 19 ISO RGD:736987 D RGD:7240710 20180130 OMIM 11759381 LOC100979946 T-cell surface glycoprotein CD3 delta chain gene DOID:0111972 immunodeficiency 19 ISO RGD:736987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:10935641|PMID:14602880|PMID:15546002|PMID:16199547|PMID:1635567|PMID:17277165|PMID:17576681|PMID:21883749|PMID:21926461|PMID:22039266|PMID:23336327|PMID:24216686|PMID:24290291|PMID:24910257|PMID:25344390|PMID:25373860|PMID:25741868|PMID:26822028|PMID:27807805|PMID:28492532|PMID:31031743|PMID:8490660|PMID:9536098 11759381 LOC100979946 T-cell surface glycoprotein CD3 delta chain gene DOID:0111973 immunodeficiency 17 ISO RGD:736987 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11759381 LOC100979946 T-cell surface glycoprotein CD3 delta chain gene DOID:1059 intellectual disability ISO RGD:736987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11759381 LOC100979946 T-cell surface glycoprotein CD3 delta chain gene DOID:12236 primary biliary cholangitis ISO RGD:736987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18422935 11759381 LOC100979946 T-cell surface glycoprotein CD3 delta chain gene DOID:3042 allergic contact dermatitis ISO RGD:736987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17597826 11759381 LOC100979946 T-cell surface glycoprotein CD3 delta chain gene DOID:3602 toxic encephalopathy ISO RGD:736987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11759381 LOC100979946 T-cell surface glycoprotein CD3 delta chain gene DOID:409 liver disease ISO RGD:736987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11759381 LOC100979946 T-cell surface glycoprotein CD3 delta chain gene DOID:627 severe combined immunodeficiency ISO RGD:736987 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11759381 LOC100979946 T-cell surface glycoprotein CD3 delta chain gene DOID:630 genetic disease ISO RGD:736987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11759381 LOC100979946 T-cell surface glycoprotein CD3 delta chain gene DOID:9000795 Immunodeficiency 104 ISO RGD:736987 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Immunodeficiency 104 PMID:28492532 11759381 LOC100979946 T-cell surface glycoprotein CD3 delta chain gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:736987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11759381 LOC100979946 T-cell surface glycoprotein CD3 delta chain gene DOID:9007661 Dwarfism ISO RGD:736987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11759390 SLC35C1 solute carrier family 35 member C1 gene DOID:0050444 infantile Refsum disease ISO RGD:1319816 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 11759390 SLC35C1 solute carrier family 35 member C1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1319816 D RGD:7240710 20180130 OMIM 11759390 SLC35C1 solute carrier family 35 member C1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1319816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CDG IIc | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2C | ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:11213799|PMID:11326279|PMID:11326280|PMID:12116250|PMID:1279426|PMID:16455955|PMID:17576681|PMID:23806237|PMID:24033266|PMID:24403049|PMID:25326637|PMID:25741868|PMID:28492532|PMID:29030401|PMID:32313197|PMID:33098347|PMID:33413482|PMID:9536098 11759390 SLC35C1 solute carrier family 35 member C1 gene DOID:10283 prostate cancer ISO RGD:1319816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11759390 SLC35C1 solute carrier family 35 member C1 gene DOID:1059 intellectual disability ISO RGD:1319816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11759390 SLC35C1 solute carrier family 35 member C1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1319816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 11759390 SLC35C1 solute carrier family 35 member C1 gene DOID:630 genetic disease ISO RGD:1319816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11759390 SLC35C1 solute carrier family 35 member C1 gene DOID:905 Zellweger syndrome ISO RGD:1319816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 11759396 CTU1 cytosolic thiouridylase subunit 1 gene DOID:630 genetic disease ISO RGD:1602450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759396 CTU1 cytosolic thiouridylase subunit 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1602450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 11759396 CTU1 cytosolic thiouridylase subunit 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1602450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 11759396 CTU1 cytosolic thiouridylase subunit 1 gene DOID:9006205 Animal Disease Models ISO RGD:1602450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 11759396 CTU1 cytosolic thiouridylase subunit 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1602450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 11759410 FNDC5 fibronectin type III domain containing 5 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1348160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11759410 FNDC5 fibronectin type III domain containing 5 gene DOID:10763 hypertension ISO RGD:1348160 D RGD:9068941 20201106 CTD CTD Direct Evidence: therapeutic PMID:32165127 11759410 FNDC5 fibronectin type III domain containing 5 gene DOID:12932 endomyocardial fibrosis ISO RGD:1348160 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30703374 11759410 FNDC5 fibronectin type III domain containing 5 gene DOID:630 genetic disease ISO RGD:1348160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759410 FNDC5 fibronectin type III domain containing 5 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1348160 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30703374 11759410 FNDC5 fibronectin type III domain containing 5 gene DOID:9003936 Cardiomegaly ISO RGD:1348160 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30703374 11759410 FNDC5 fibronectin type III domain containing 5 gene DOID:9005372 Inflammation ISO RGD:1348160 D RGD:9068941 20201106 CTD CTD Direct Evidence: therapeutic PMID:32165127 11759429 ZC4H2 zinc finger C4H2-type containing gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11759429 ZC4H2 zinc finger C4H2-type containing gene DOID:0060815 Miles-Carpenter syndrome ISO RGD:1349237 D RGD:7240710 20180321 OMIM 11759429 ZC4H2 zinc finger C4H2-type containing gene DOID:0060815 Miles-Carpenter syndrome ISO RGD:1349237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Miles-Carpenter syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome PMID:17576681|PMID:1915520|PMID:19377476|PMID:2018061|PMID:23623388|PMID:25644381|PMID:25741868|PMID:26056227|PMID:28492532|PMID:28814648|PMID:31206972|PMID:32860008|PMID:4039531|PMID:9536098 11759429 ZC4H2 zinc finger C4H2-type containing gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1349237 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:9383023 11759429 ZC4H2 zinc finger C4H2-type containing gene DOID:0080215 developmental and epileptic encephalopathy 8 ISO RGD:1349237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 PMID:28492532 11759429 ZC4H2 zinc finger C4H2-type containing gene DOID:0111827 X-linked spinal muscular atrophy 2 ISO RGD:1349237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23623388 11759429 ZC4H2 zinc finger C4H2-type containing gene DOID:10907 microcephaly ISO RGD:1349237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26056227 11759429 ZC4H2 zinc finger C4H2-type containing gene DOID:12849 autistic disorder ISO RGD:1349237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11759429 ZC4H2 zinc finger C4H2-type containing gene DOID:630 genetic disease ISO RGD:1349237 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19377476|PMID:23623388|PMID:25644381|PMID:25741868|PMID:26056227|PMID:28492532|PMID:28814648|PMID:31206972 11759429 ZC4H2 zinc finger C4H2-type containing gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:1915520|PMID:23623388|PMID:25741868|PMID:28814648 11759429 ZC4H2 zinc finger C4H2-type containing gene DOID:9008262 WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED ISO RGD:1349237 D RGD:7240710 20200826 OMIM 11759429 ZC4H2 zinc finger C4H2-type containing gene DOID:9008262 WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED ISO RGD:1349237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted PMID:23623388|PMID:25741868|PMID:28814648|PMID:31206972 11759441 MYEF2 myelin expression factor 2 gene DOID:0050632 oculocutaneous albinism ISO RGD:1315223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:16199547|PMID:23985994|PMID:24033266|PMID:26686029|PMID:28492532 11759441 MYEF2 myelin expression factor 2 gene DOID:0080614 oculocutaneous albinism type VI ISO RGD:1315223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Albinism, oculocutaneous, type VI PMID:23364476|PMID:23985994|PMID:25741868|PMID:26491832|PMID:26686029|PMID:28492532|PMID:31077556 11759441 MYEF2 myelin expression factor 2 gene DOID:14323 Marfan syndrome ISO RGD:1315223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:21063442|PMID:25741868|PMID:26787436|PMID:28492532 11759441 MYEF2 myelin expression factor 2 gene DOID:2717 Bloom syndrome ISO RGD:1315223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11759441 MYEF2 myelin expression factor 2 gene DOID:630 genetic disease ISO RGD:1315223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23985994|PMID:26686029|PMID:28492532 11759441 MYEF2 myelin expression factor 2 gene DOID:9001735 Skin/Hair/Eye Pigmentation, Variation In, 4 ISO RGD:1315223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 4 PMID:23010199|PMID:25741868 11759441 MYEF2 myelin expression factor 2 gene DOID:9256 colorectal cancer ISO RGD:1315223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11759460 MAN1C1 mannosidase alpha class 1C member 1 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1320140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 11759460 MAN1C1 mannosidase alpha class 1C member 1 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1320140 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 11759460 MAN1C1 mannosidase alpha class 1C member 1 gene DOID:0110633 rigid spine muscular dystrophy 1 ISO RGD:1320140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy PMID:21131290|PMID:21670436|PMID:28492532 11759460 MAN1C1 mannosidase alpha class 1C member 1 gene DOID:630 genetic disease ISO RGD:1320140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759477 BRMS1L BRMS1 like transcriptional repressor gene DOID:630 genetic disease ISO RGD:1314372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759477 BRMS1L BRMS1 like transcriptional repressor gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1314372 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11759491 ATP7A ATPase copper transporting alpha gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:10216 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:20170900|PMID:25741868|PMID:28389643|PMID:32294113 11759491 ATP7A ATPase copper transporting alpha gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:10216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11759491 ATP7A ATPase copper transporting alpha gene DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ISO RGD:10216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia PMID:24550228|PMID:28492532 11759491 ATP7A ATPase copper transporting alpha gene DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ISO RGD:10216 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome PMID:28492532 11759491 ATP7A ATPase copper transporting alpha gene DOID:0111196 X-linked distal spinal muscular atrophy 3 ISO RGD:10216 D RGD:7240710 20180130 OMIM 11759491 ATP7A ATPase copper transporting alpha gene DOID:0111196 X-linked distal spinal muscular atrophy 3 ISO RGD:10216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE PMID:14985388|PMID:18414213|PMID:19153371|PMID:20170900|PMID:22210628|PMID:24033266|PMID:25428120|PMID:25741868|PMID:28119449|PMID:28492532 11759491 ATP7A ATPase copper transporting alpha gene DOID:0111272 occipital horn syndrome ISO RGD:10216 D RGD:7240710 20180130 OMIM 11759491 ATP7A ATPase copper transporting alpha gene DOID:0111272 occipital horn syndrome ISO RGD:10216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutis laxa, X-linked | ClinVar Annotator: match by term: EDS IX | ClinVar Annotator: match by term: Occipital horn syndrome PMID:10739752|PMID:11241493|PMID:11431706|PMID:16199547|PMID:17108763|PMID:18414213|PMID:19153371|PMID:20170900|PMID:20652413|PMID:22210628|PMID:24033266|PMID:25741868|PMID:28119449|PMID:28492532|PMID:7842019|PMID:8149649|PMID:8981948|PMID:9246006|PMID:9880610 11759491 ATP7A ATPase copper transporting alpha gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:10216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked PMID:26242992 11759491 ATP7A ATPase copper transporting alpha gene DOID:1059 intellectual disability ISO RGD:10216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11759491 ATP7A ATPase copper transporting alpha gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:10216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:14985388|PMID:19153371|PMID:20170900|PMID:22210628|PMID:28119449|PMID:28492532 11759491 ATP7A ATPase copper transporting alpha gene DOID:10652 Alzheimer's disease ISO RGD:2179 D RGD:9068941 20200609 RGD mRNA:decreased expression:pituitary gland, vascular plexus (rat) PMID:20027333|REF_RGD_ID:8657017 11759491 ATP7A ATPase copper transporting alpha gene DOID:11758 iron deficiency anemia ISO RGD:10215 D RGD:9068941 20200609 RGD mRNA:increased expression:duodenum (mouse) PMID:23776592|REF_RGD_ID:11252172 11759491 ATP7A ATPase copper transporting alpha gene DOID:11758 iron deficiency anemia ISO RGD:2179 D RGD:9068941 20200609 RGD mRNA:increased expression:small intestine mucosa (rat) PMID:15637178|REF_RGD_ID:2315589 11759491 ATP7A ATPase copper transporting alpha gene DOID:11758 iron deficiency anemia severity ISO RGD:10215 D RGD:9068941 20200609 RGD DNA:deletion:cds:p.A799_L800del (mouse) PMID:23776592|REF_RGD_ID:11252172 11759491 ATP7A ATPase copper transporting alpha gene DOID:12849 autistic disorder ISO RGD:10216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11759491 ATP7A ATPase copper transporting alpha gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:10216 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:10570920|PMID:11241493|PMID:18414213|PMID:20045993|PMID:23281160|PMID:25741868|PMID:28492532 11759491 ATP7A ATPase copper transporting alpha gene DOID:1838 Menkes disease ISO RGD:10216 D RGD:7240710 20180130 OMIM 11759491 ATP7A ATPase copper transporting alpha gene DOID:1838 Menkes disease ISO RGD:10216 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Menkes Disease | ClinVar Annotator: match by term: Menkes disease, copper-replacement responsive | ClinVar Annotator: match by term: Menkes kinky-hair syndrome PMID:10319589|PMID:10570920|PMID:10739752|PMID:11241493|PMID:11350187|PMID:12221109|PMID:12676902|PMID:14635105|PMID:14985388|PMID:15372525|PMID:16083905|PMID:16199547|PMID:16826513|PMID:17108763|PMID:17496194|PMID:17576681|PMID:18414213|PMID:18752978|PMID:19153371|PMID:19194885|PMID:20045993|PMID:20170900|PMID:20301586|PMID:20652413|PMID:21208200|PMID:21494555|PMID:21716286|PMID:22361452|PMID:23281160|PMID:24033266|PMID:25150085|PMID:25428120|PMID:25640679|PMID:25741868|PMID:26117549|PMID:27878136|PMID:28251916|PMID:28389643|PMID:28397151|PMID:28492532|PMID:29653220|PMID:30809870|PMID:31124329|PMID:31319225|PMID:32005694|PMID:32293788|PMID:33999244|PMID:34008892|PMID:7842019|PMID:7977350|PMID:8812725|PMID:8981948|PMID:9246006|PMID:9536098|PMID:9894833 11759491 ATP7A ATPase copper transporting alpha gene DOID:1838 Menkes disease ISO RGD:10216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Menkes Disease | ClinVar Annotator: match by term: Menkes disease, copper-replacement responsive | ClinVar Annotator: match by term: Menkes disease, mild | ClinVar Annotator: match by term: Menkes kinky-hair syndrome PMID:10319589|PMID:10570920|PMID:10739752|PMID:11241493|PMID:11350187|PMID:11472597|PMID:12221109|PMID:12676902|PMID:14635105|PMID:14985388|PMID:15372525|PMID:16083905|PMID:16199547|PMID:16826513|PMID:17108763|PMID:17483305|PMID:17576681|PMID:18256395|PMID:18414213|PMID:18752978|PMID:19153371|PMID:19194885|PMID:20045993|PMID:20170900|PMID:20301586|PMID:20497190|PMID:20652413|PMID:20799318|PMID:21208200|PMID:21494555|PMID:21716286|PMID:22074552|PMID:22210628|PMID:22264391|PMID:22361452|PMID:23281160|PMID:24033266|PMID:25150085|PMID:25428120|PMID:25640679|PMID:25741868|PMID:26117549|PMID:26467025|PMID:27878136|PMID:28119449|PMID:28389643|PMID:28397151|PMID:28451781|PMID:28492532|PMID:29653220|PMID:30809870|PMID:31124329|PMID:31319225|PMID:32005694|PMID:32293788|PMID:33999244|PMID:34008892|PMID:34440436|PMID:7842019|PMID:7977350|PMID:8812725|PMID:8981948|PMID:9166584|PMID:9246006|PMID:9385451|PMID:9467005|PMID:9536098|PMID:9668166|PMID:9894833 11759491 ATP7A ATPase copper transporting alpha gene DOID:1838 Menkes disease severity ISO RGD:10216 D RGD:9068941 20200609 RGD DNA:duplication:exon: PMID:22074552|REF_RGD_ID:12879459 11759491 ATP7A ATPase copper transporting alpha gene DOID:2355 anemia ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23776592 11759491 ATP7A ATPase copper transporting alpha gene DOID:3144 cutis laxa susceptibility ISO RGD:10216 D RGD:9068941 20200609 RGD DNA:splice-site mutation PMID:10739752|REF_RGD_ID:734621 11759491 ATP7A ATPase copper transporting alpha gene DOID:3627 aortic aneurysm ISO RGD:10215 D RGD:9068941 20220825 MouseDO 11759491 ATP7A ATPase copper transporting alpha gene DOID:3827 congenital diaphragmatic hernia ISO RGD:2179 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:diaphragm (rat) PMID:25319798|REF_RGD_ID:11341670 11759491 ATP7A ATPase copper transporting alpha gene DOID:630 genetic disease ISO RGD:10216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10570920|PMID:11241493|PMID:16083905|PMID:18414213|PMID:18752978|PMID:20045993|PMID:21716286|PMID:22264391|PMID:23281160|PMID:24033266|PMID:25741868|PMID:27878136|PMID:28389643|PMID:28397151|PMID:28492532|PMID:29653220 11759491 ATP7A ATPase copper transporting alpha gene DOID:6432 pulmonary hypertension ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24614111 11759491 ATP7A ATPase copper transporting alpha gene DOID:8398 osteoarthritis ISO RGD:10215 D RGD:9068941 20220825 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:612400 11759491 ATP7A ATPase copper transporting alpha gene DOID:893 Wilson disease ISO RGD:2179 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:27331785|REF_RGD_ID:11340212 11759491 ATP7A ATPase copper transporting alpha gene DOID:9000352 Vascular System Injuries ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20671235 11759491 ATP7A ATPase copper transporting alpha gene DOID:9000495 Tremor ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22815746 11759491 ATP7A ATPase copper transporting alpha gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23792645 11759491 ATP7A ATPase copper transporting alpha gene DOID:9002514 Neointima ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20671235 11759491 ATP7A ATPase copper transporting alpha gene DOID:9002801 Recurrence ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22304828 11759491 ATP7A ATPase copper transporting alpha gene DOID:9002928 Colonic Neoplasms ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17510416 11759491 ATP7A ATPase copper transporting alpha gene DOID:9003603 Hemolysis ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25247420 11759491 ATP7A ATPase copper transporting alpha gene DOID:9003814 Neurologic Manifestations ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22815746|PMID:23064757 11759491 ATP7A ATPase copper transporting alpha gene DOID:9004080 Aortic Rupture ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2346371|PMID:25449986 11759491 ATP7A ATPase copper transporting alpha gene DOID:9004866 Ataxia ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22815746 11759491 ATP7A ATPase copper transporting alpha gene DOID:9005246 Paralysis ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22815746 11759491 ATP7A ATPase copper transporting alpha gene DOID:9006205 Animal Disease Models ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17483305 11759491 ATP7A ATPase copper transporting alpha gene DOID:9006257 Growth Disorders ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23064757 11759491 ATP7A ATPase copper transporting alpha gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:2179 D RGD:9068941 20200609 RGD PMID:24927960|REF_RGD_ID:11341676 11759491 ATP7A ATPase copper transporting alpha gene DOID:9007023 Prenatal Injuries ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25456742 11759491 ATP7A ATPase copper transporting alpha gene DOID:9008510 Chronic Hepatitis ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:735373 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:18356561|PMID:19555857|PMID:20002458|PMID:20534176|PMID:21737554|PMID:25741868|PMID:26387786|PMID:28492532 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:735373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:0081268 pulmonary venoocclusive disease 1 ISO RGD:735373 D RGD:7240710 20180718 OMIM 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:0081268 pulmonary venoocclusive disease 1 ISO RGD:735373 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1 | ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1, autosomal dominant PMID:11115378|PMID:12446270|PMID:15591269|PMID:16429395|PMID:16429403|PMID:18626305|PMID:19555857|PMID:20534176|PMID:21801371|PMID:25741868|PMID:26387786|PMID:28492532|PMID:28507310|PMID:32581362 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:735373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:11613 hyperandrogenism ISO RGD:735373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22825968 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:13374 fibrodysplasia ossificans progressiva ISO RGD:735373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myositis ossificans 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:735373 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension | ClinVar Annotator: match by term: Primary pulmonary hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, dexfenfluramine-associated | ClinVar Annotator: match by term: Pulmonary hypertension, primary, fenfluramine-associated PMID:10903931|PMID:10973254|PMID:11015450|PMID:11115378|PMID:11502704|PMID:11536076|PMID:12045205|PMID:12139571|PMID:12358323|PMID:12417513|PMID:12821254|PMID:14985116|PMID:15059534|PMID:15146475|PMID:15358693|PMID:15591269|PMID:15775752|PMID:15965979|PMID:16199547|PMID:16429395|PMID:16429403|PMID:16717148|PMID:16728714|PMID:17515463|PMID:17576681|PMID:18159113|PMID:18321866|PMID:18356561|PMID:18503968|PMID:19206171|PMID:19223935|PMID:19324947|PMID:19555857|PMID:19844076|PMID:20002458|PMID:20096498|PMID:20534176|PMID:21070126|PMID:21228398|PMID:21737554|PMID:21801371|PMID:21920918|PMID:22632830|PMID:22995991|PMID:23298310|PMID:23579436|PMID:23592887|PMID:23675998|PMID:24033266|PMID:24936649|PMID:25187962|PMID:25429696|PMID:25612240|PMID:25640679|PMID:25688877|PMID:25741868|PMID:25917481|PMID:26387786|PMID:26645265|PMID:26699722|PMID:26820968|PMID:27453251|PMID:27630060|PMID:27811071|PMID:27816994|PMID:27884767|PMID:28388887|PMID:28480048|PMID:28492532|PMID:28507310|PMID:29631995|PMID:29650961|PMID:29743074|PMID:29843651|PMID:30029678|PMID:30578397|PMID:30679663|PMID:30957726|PMID:31727138|PMID:31797984|PMID:32581362|PMID:3291115|PMID:33066286|PMID:9536098 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:1681 heart septal defect ISO RGD:735373 D RGD:9068941 20200609 RGD PMID:21070126|REF_RGD_ID:5129230 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:1826 epilepsy ISO RGD:735373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:12358323|PMID:25741868|PMID:28492532 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:2841 asthma ISO RGD:735373 D RGD:9068941 20200609 RGD protein:decreased expression:bronchus PMID:18292470|REF_RGD_ID:5129470 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:341 peripheral vascular disease ISO RGD:735374 D RGD:9068941 20200609 RGD PMID:18723761|REF_RGD_ID:5129473 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:735373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735373 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18356561|PMID:19555857|PMID:20002458|PMID:20534176|PMID:21737554|PMID:25741868|PMID:26387786|PMID:28492532 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:630 genetic disease ISO RGD:735373 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension ISO RGD:71082 D RGD:9068941 20200924 RGD protein:decreased expression:lung PMID:25593290|REF_RGD_ID:38500244 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension ISO RGD:71082 D RGD:9068941 20201211 RGD induced by human ad-ALOX5 PMID:31462075|REF_RGD_ID:14975304 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension ISO RGD:735373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11590841|PMID:11893684|PMID:12358323|PMID:16297860|PMID:20496075|PMID:20522807|PMID:23383100|PMID:23502781|PMID:24224048 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension ISO RGD:735373 D RGD:9068941 20200609 RGD PMID:15775752|PMID:19324947|REF_RGD_ID:1580076|REF_RGD_ID:5129472 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension ISO RGD:735373 D RGD:9068941 20200609 RGD DNA:mutations: :multiple (human) PMID:20002458|PMID:20534176|REF_RGD_ID:5129237|REF_RGD_ID:5129238 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension ISO RGD:735374 D RGD:9068941 20200609 RGD PMID:18663089|REF_RGD_ID:5129474 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension disease_progression ISO RGD:735373 D RGD:9068941 20200609 RGD DNA:missense mutations (human) PMID:19785764|REF_RGD_ID:5129239 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension treatment ISO RGD:735373 D RGD:9068941 20201001 RGD PMID:21737550|REF_RGD_ID:38500243 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:9000998 Brain Injuries ISO RGD:71082 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus, neuron PMID:9080432|REF_RGD_ID:5129488 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:735373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease PMID:10903931|PMID:10973254|PMID:11015450|PMID:11115378|PMID:11502704|PMID:11536076|PMID:12045205|PMID:12358323|PMID:12417513|PMID:12821254|PMID:14985116|PMID:15059534|PMID:15146475|PMID:15358693|PMID:15591269|PMID:15687131|PMID:15965979|PMID:16199547|PMID:16429395|PMID:16717148|PMID:17515463|PMID:18159113|PMID:18321866|PMID:18356561|PMID:18503968|PMID:19555857|PMID:20002458|PMID:20095988|PMID:20096498|PMID:20534176|PMID:21737554|PMID:21801371|PMID:23298310|PMID:23579436|PMID:23592887|PMID:23675998|PMID:24591673|PMID:25187962|PMID:25429696|PMID:25612240|PMID:25688877|PMID:25741868|PMID:26387786|PMID:26645265|PMID:27884767|PMID:28388887|PMID:28480048|PMID:28492532|PMID:29631995|PMID:29650961|PMID:29843651|PMID:30029678|PMID:30578397|PMID:31727138|PMID:32581362|PMID:3291115 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:9004009 Reperfusion Injury ISO RGD:71082 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus, granule cell PMID:10996456|REF_RGD_ID:5129486 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:9004771 Vascular Remodeling ISO RGD:71082 D RGD:9068941 20201211 RGD PMID:25593290|REF_RGD_ID:38500244 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:9005151 Selective Tooth Agenesis 1 ISO RGD:735373 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 1 PMID:19555857|PMID:20002458|PMID:21737554|PMID:25741868|PMID:26387786|PMID:28492532 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:71082 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:21521772|REF_RGD_ID:5135278 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:735373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:9008582 Developmental Disease ISO RGD:735373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:9008763 Femoral Fractures ISO RGD:71082 D RGD:9068941 20200609 RGD PMID:9626398|REF_RGD_ID:2289041 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:9008939 Breast Neoplasms ISO RGD:735373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23180569 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:735373 D RGD:7240710 20180905 OMIM 11759533 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:735373 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia PMID:10903931|PMID:10973254|PMID:11015450|PMID:11115378|PMID:11502704|PMID:11536076|PMID:12045205|PMID:12139571|PMID:12358323|PMID:12417513|PMID:12446270|PMID:12821254|PMID:14516151|PMID:14583445|PMID:14985116|PMID:15055271|PMID:15059534|PMID:15146475|PMID:15170098|PMID:15358693|PMID:15591269|PMID:15687131|PMID:15775752|PMID:15965979|PMID:16199547|PMID:16429395|PMID:16429403|PMID:16717148|PMID:16728714|PMID:17515463|PMID:17576681|PMID:18159113|PMID:18221724|PMID:18321866|PMID:18356561|PMID:18364108|PMID:18386374|PMID:18503968|PMID:18792970|PMID:19206171|PMID:19223935|PMID:19324947|PMID:19555857|PMID:19844076|PMID:20002458|PMID:20095988|PMID:20096498|PMID:20496075|PMID:20534176|PMID:21070126|PMID:21228398|PMID:21737554|PMID:21801371|PMID:22632830|PMID:22995991|PMID:23139147|PMID:23298310|PMID:23579436|PMID:23592887|PMID:23675998|PMID:24033266|PMID:24591673|PMID:24853021|PMID:24936649|PMID:25187962|PMID:25429696|PMID:25612240|PMID:25640679|PMID:25688877|PMID:25741868|PMID:25917481|PMID:26387786|PMID:26645265|PMID:26699722|PMID:27002414|PMID:27453251|PMID:27630060|PMID:27811071|PMID:27816994|PMID:27884767|PMID:28388887|PMID:28391780|PMID:28492532|PMID:28507310|PMID:29631995|PMID:29650961|PMID:29743074|PMID:29843651|PMID:30029678|PMID:30578397|PMID:30679663|PMID:31727138|PMID:31797984|PMID:32581362|PMID:3291115|PMID:33380512|PMID:9536098 11759550 HCRT hypocretin neuropeptide precursor gene DOID:0050848 obstructive sleep apnea ISO RGD:731040 D RGD:9068941 20200609 RGD protein:decreased expression:plasma:independent of level of somnolence or obesity PMID:15627867|REF_RGD_ID:1600936 11759550 HCRT hypocretin neuropeptide precursor gene DOID:0060001 withdrawal disorder ISO RGD:731040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20738730 11759550 HCRT hypocretin neuropeptide precursor gene DOID:11983 Prader-Willi syndrome ISO RGD:731040 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:15613151|REF_RGD_ID:1600935 11759550 HCRT hypocretin neuropeptide precursor gene DOID:12842 Guillain-Barre syndrome ISO RGD:731040 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:15623725|REF_RGD_ID:1600925 11759550 HCRT hypocretin neuropeptide precursor gene DOID:1289 neurodegenerative disease ISO RGD:731040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23246865 11759550 HCRT hypocretin neuropeptide precursor gene DOID:4195 hyperglycemia treatment ISO RGD:2786 D RGD:9068941 20200609 RGD associated with Obesity PMID:12217430|REF_RGD_ID:1358430 11759550 HCRT hypocretin neuropeptide precursor gene DOID:630 genetic disease ISO RGD:731040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759550 HCRT hypocretin neuropeptide precursor gene DOID:8986 narcolepsy ISO RGD:731040 D RGD:9068941 20200609 RGD DNA:polymorphism:5' UTR:3250C/T, all patients found heterozygous for the 3250T allele PMID:11148249|REF_RGD_ID:1600922 11759550 HCRT hypocretin neuropeptide precursor gene DOID:8986 narcolepsy ISO RGD:731040 D RGD:9068941 20200609 RGD mRNA:decreased expression:hypothalamus or protein:decreased expression:brain; in all samples examined PMID:10973318|REF_RGD_ID:1600919 11759550 HCRT hypocretin neuropeptide precursor gene DOID:8986 narcolepsy ISO RGD:731041 D RGD:9068941 20220825 MouseDO OMIM:161400 | OMIM:605841 | OMIM:609039 | OMIM:612417 | OMIM:612851 | OMIM:614223 | OMIM:614250 11759550 HCRT hypocretin neuropeptide precursor gene DOID:8986 narcolepsy no_association ISO RGD:731040 D RGD:9068941 20200609 RGD DNA:polymorphism:5' UTR:no association with either -909C-T polymorphism or -22T allele (aka 3250T allele) PMID:11723284|REF_RGD_ID:1600923 11759550 HCRT hypocretin neuropeptide precursor gene DOID:9000641 Pain ISO RGD:731040 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16202530 11759550 HCRT hypocretin neuropeptide precursor gene DOID:9002395 Hypothermia ISO RGD:731040 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26799708 11759550 HCRT hypocretin neuropeptide precursor gene DOID:9002916 Hyperphagia ISO RGD:2786 D RGD:9068941 20200609 RGD PMID:12535169|REF_RGD_ID:1358429 11759550 HCRT hypocretin neuropeptide precursor gene DOID:9002916 Hyperphagia ISO RGD:731040 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27071101 11759550 HCRT hypocretin neuropeptide precursor gene DOID:9002925 Narcolepsy 1 ISO RGD:731040 D RGD:7240710 20180130 OMIM 11759550 HCRT hypocretin neuropeptide precursor gene DOID:9002925 Narcolepsy 1 ISO RGD:731040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Narcolepsy 1 PMID:10973318 11759550 HCRT hypocretin neuropeptide precursor gene DOID:9004657 Weight Gain ISO RGD:731040 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27071101 11759550 HCRT hypocretin neuropeptide precursor gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16357203 11759550 HCRT hypocretin neuropeptide precursor gene DOID:9970 obesity ISO RGD:2786 D RGD:9068941 20200609 RGD mRNA:increased expression:perifornical nucleus PMID:12560202|REF_RGD_ID:1358428 11759550 HCRT hypocretin neuropeptide precursor gene DOID:9970 obesity ISO RGD:731040 D RGD:9068941 20200609 RGD protein:decreased expression:plasma:orexin A NOT orexin B polypeptide, expression inversely related to degree of obesity PMID:16135994|REF_RGD_ID:1600933 11759550 HCRT hypocretin neuropeptide precursor gene DOID:9970 obesity ISO RGD:731040 D RGD:9068941 20200609 RGD protein:increased expression:plasma:fasting patients, no change after weight loss due to gastric banding PMID:15970339|REF_RGD_ID:1600932 11759550 HCRT hypocretin neuropeptide precursor gene DOID:9970 obesity ISO RGD:731040 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27071101 11759550 HCRT hypocretin neuropeptide precursor gene DOID:9970 obesity ISO RGD:731041 D RGD:9068941 20200609 RGD mRNA:increased expression:perifornical nucleus PMID:12560202|REF_RGD_ID:1358428 11759556 COMMD2 COMM domain containing 2 gene DOID:0050579 glycogen storage disease XV ISO RGD:1319139 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 11759556 COMMD2 COMM domain containing 2 gene DOID:630 genetic disease ISO RGD:1319139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759565 TTC8 tetratricopeptide repeat domain 8 gene DOID:0110130 Bardet-Biedl syndrome 8 ISO RGD:1317152 D RGD:7240710 20180130 OMIM 11759565 TTC8 tetratricopeptide repeat domain 8 gene DOID:0110130 Bardet-Biedl syndrome 8 ISO RGD:1317152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 8 PMID:14520415|PMID:16199547|PMID:16308660|PMID:16877420|PMID:17576681|PMID:19797195|PMID:20177705|PMID:21044901|PMID:21052717|PMID:24033266|PMID:25097241|PMID:25741868|PMID:26401321|PMID:28492532|PMID:28914264|PMID:29030401|PMID:30718709|PMID:30886724|PMID:32962042|PMID:33138063|PMID:33532864|PMID:33964006|PMID:9536098 11759565 TTC8 tetratricopeptide repeat domain 8 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:1317152 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:28492532 11759565 TTC8 tetratricopeptide repeat domain 8 gene DOID:0110398 retinitis pigmentosa 51 ISO RGD:1317152 D RGD:7240710 20180130 OMIM 11759565 TTC8 tetratricopeptide repeat domain 8 gene DOID:0110398 retinitis pigmentosa 51 ISO RGD:1317152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 51 PMID:16199547|PMID:16308660|PMID:16877420|PMID:17576681|PMID:19797195|PMID:20177705|PMID:20451172|PMID:21044901|PMID:21052717|PMID:24033266|PMID:25097241|PMID:25741868|PMID:25776555|PMID:25999674|PMID:26195043|PMID:26401321|PMID:28492532|PMID:28914264|PMID:29030401|PMID:30718709|PMID:30886724|PMID:32962042|PMID:33138063|PMID:33964006|PMID:9536098 11759565 TTC8 tetratricopeptide repeat domain 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1317152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:14520415|PMID:16308660|PMID:25097241|PMID:25741868|PMID:28492532|PMID:30718709 11759565 TTC8 tetratricopeptide repeat domain 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1317152 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:14520415|PMID:16308660|PMID:25097241|PMID:25326637|PMID:25741868|PMID:28492532|PMID:30718709 11759565 TTC8 tetratricopeptide repeat domain 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1317152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:14520415|PMID:16308660|PMID:25097241|PMID:25326637|PMID:25741868|PMID:28492532|PMID:30718709|PMID:33964006 11759565 TTC8 tetratricopeptide repeat domain 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1317152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:14520415|PMID:16308660|PMID:25097241|PMID:25741868|PMID:28492532|PMID:30718709|PMID:33964006 11759565 TTC8 tetratricopeptide repeat domain 8 gene DOID:1059 intellectual disability ISO RGD:1317152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, moderate PMID:16308660|PMID:17576681|PMID:20177705|PMID:21044901|PMID:24033266|PMID:25741868|PMID:26401321|PMID:28492532|PMID:28914264|PMID:29030401|PMID:30886724|PMID:32962042|PMID:33138063|PMID:9536098 11759565 TTC8 tetratricopeptide repeat domain 8 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1317152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:14520415|PMID:16199547|PMID:16308660|PMID:16877420|PMID:17576681|PMID:19797195|PMID:20177705|PMID:21044901|PMID:21052717|PMID:24033266|PMID:25097241|PMID:25741868|PMID:25999674|PMID:26401321|PMID:28492532|PMID:28914264|PMID:29030401|PMID:30718709|PMID:30886724|PMID:31736247|PMID:32962042|PMID:33138063|PMID:33587123|PMID:33964006|PMID:9536098 11759565 TTC8 tetratricopeptide repeat domain 8 gene DOID:1935 Bardet-Biedl syndrome susceptibility ISO RGD:1317152 D RGD:9068941 20200609 RGD DNA:deletions:exon, splice junction :p.E187_Y188del, IVS10+2_+4delTGC PMID:14520415|REF_RGD_ID:1624198 11759565 TTC8 tetratricopeptide repeat domain 8 gene DOID:4448 macular degeneration ISO RGD:1317152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:25097241|PMID:25741868|PMID:28492532|PMID:30718709|PMID:33964006 11759565 TTC8 tetratricopeptide repeat domain 8 gene DOID:630 genetic disease ISO RGD:1317152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25097241|PMID:25741868|PMID:28492532|PMID:30718709|PMID:33964006 11759565 TTC8 tetratricopeptide repeat domain 8 gene DOID:8466 retinal degeneration ISO RGD:12071899 D RGD:9068941 20221201 OMIA Progressive retinal atrophy, TTC8-related PMID:22065099|PMID:26401321|PMID:26427412|PMID:32962042|PMID:36325094 11759565 TTC8 tetratricopeptide repeat domain 8 gene DOID:8501 fundus dystrophy ISO RGD:1317152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16308660|PMID:17576681|PMID:20177705|PMID:21044901|PMID:24033266|PMID:25741868|PMID:26401321|PMID:28492532|PMID:28914264|PMID:29030401|PMID:30886724|PMID:32962042|PMID:33138063|PMID:9536098 11759590 LRRIQ4 leucine rich repeats and IQ motif containing 4 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:2293898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 11759590 LRRIQ4 leucine rich repeats and IQ motif containing 4 gene DOID:1062 Fanconi syndrome ISO RGD:2293898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 11759590 LRRIQ4 leucine rich repeats and IQ motif containing 4 gene DOID:630 genetic disease ISO RGD:2293898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759601 MS4A5 membrane spanning 4-domains A5 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350963 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11759601 MS4A5 membrane spanning 4-domains A5 gene DOID:1059 intellectual disability ISO RGD:1350963 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Intellectual disability 11759601 MS4A5 membrane spanning 4-domains A5 gene DOID:630 genetic disease ISO RGD:1350963 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759610 RPTN repetin gene DOID:0111940 immunodeficiency 42 ISO RGD:1605586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11759610 RPTN repetin gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11759610 RPTN repetin gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605586 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11759610 RPTN repetin gene DOID:1540 parathyroid carcinoma ISO RGD:1605586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11759610 RPTN repetin gene DOID:5812 MHC class II deficiency ISO RGD:1605586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11759610 RPTN repetin gene DOID:630 genetic disease ISO RGD:1605586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759610 RPTN repetin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11759614 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:24358150|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30410802|PMID:31785789|PMID:33798445|PMID:9536098 11759614 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:0080600 COVID-19 ISO RGD:737609 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11759614 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:737609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:24358150|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30410802|PMID:31785789|PMID:33798445|PMID:9536098 11759614 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:12859 choreatic disease ISO RGD:737609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14660671 11759614 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:1825 childhood absence epilepsy ISO RGD:737609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14660671 11759614 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:1826 epilepsy ISO RGD:737609 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11759614 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:630 genetic disease ISO RGD:737609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:30410802|PMID:9536098 11759614 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:631360 D RGD:9068941 20200609 RGD PMID:28469787|REF_RGD_ID:13513983 11759614 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:737609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 11759614 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9004538 Hearing Loss ISO RGD:737609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27798183 11759614 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9004866 Ataxia ISO RGD:737609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14660671 11759614 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:631360 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:28469787|REF_RGD_ID:13513983 11759614 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:737609 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:28469787|REF_RGD_ID:13513983 11759614 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9007456 Female Infertility ISO RGD:737609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14660671 11759614 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9009196 Cerebellar Atrophy with Seizures and Variable Developmental Delay ISO RGD:737609 D RGD:7240710 20190814 OMIM 11759614 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9009196 Cerebellar Atrophy with Seizures and Variable Developmental Delay ISO RGD:737609 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay PMID:17576681|PMID:18487195|PMID:23339110|PMID:24358150|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29997391|PMID:30410802|PMID:31402629|PMID:9536098 11759614 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:737609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11759660 NFAM1 NFAT activating protein with ITAM motif 1 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1348005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 11759660 NFAM1 NFAT activating protein with ITAM motif 1 gene DOID:1059 intellectual disability ISO RGD:1348005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11759660 NFAM1 NFAT activating protein with ITAM motif 1 gene DOID:630 genetic disease ISO RGD:1348005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759660 NFAM1 NFAT activating protein with ITAM motif 1 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1348005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 11759697 ORM1 orosomucoid 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1351569 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 11759697 ORM1 orosomucoid 1 gene DOID:3021 acute kidney failure ISO RGD:1351569 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 11759697 ORM1 orosomucoid 1 gene DOID:630 genetic disease ISO RGD:1351569 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759697 ORM1 orosomucoid 1 gene DOID:9002457 Experimental Arthritis ISO RGD:67390 D RGD:9068941 20230427 RGD protein:increased expression:liver PMID:16166348|REF_RGD_ID:2316639 11759697 ORM1 orosomucoid 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1351569 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 11759697 ORM1 orosomucoid 1 gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1351569 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 11759697 ORM1 orosomucoid 1 gene DOID:9007874 Liver Failure ISO RGD:1351569 D RGD:9068941 20230427 CTD CTD Direct Evidence: therapeutic PMID:18256743 11759726 RFX4 regulatory factor X4 gene DOID:630 genetic disease ISO RGD:1354416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759764 RDH14 retinol dehydrogenase 14 gene DOID:1059 intellectual disability ISO RGD:1320191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11759764 RDH14 retinol dehydrogenase 14 gene DOID:630 genetic disease ISO RGD:1320191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759771 GABRR3 gamma-aminobutyric acid type A receptor subunit rho3 gene DOID:630 genetic disease ISO RGD:1352541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759784 ITPRIP inositol 1,4,5-trisphosphate receptor interacting protein gene DOID:630 genetic disease ISO RGD:1344498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759796 NDUFB2 NADH:ubiquinone oxidoreductase subunit B2 gene DOID:0080690 RASopathy ISO RGD:1317724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 11759796 NDUFB2 NADH:ubiquinone oxidoreductase subunit B2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11759796 NDUFB2 NADH:ubiquinone oxidoreductase subunit B2 gene DOID:630 genetic disease ISO RGD:1317724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759816 ORAI3 ORAI calcium release-activated calcium modulator 3 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1602192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11759816 ORAI3 ORAI calcium release-activated calcium modulator 3 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1602192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 11759816 ORAI3 ORAI calcium release-activated calcium modulator 3 gene DOID:630 genetic disease ISO RGD:1602192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759830 SOX6 SRY-box transcription factor 6 gene DOID:0050700 cardiomyopathy ISO RGD:1319099 D RGD:9068941 20230323 RGD PMID:26029872|REF_RGD_ID:158014899 11759830 SOX6 SRY-box transcription factor 6 gene DOID:0080000 muscular disease ISO RGD:1319099 D RGD:9068941 20200609 RGD PMID:10760285|REF_RGD_ID:1580857 11759830 SOX6 SRY-box transcription factor 6 gene DOID:1059 intellectual disability ISO RGD:1319098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11759830 SOX6 SRY-box transcription factor 6 gene DOID:3070 high grade glioma ISO RGD:1319098 D RGD:9068941 20200609 RGD PMID:15696967|REF_RGD_ID:1580007 11759830 SOX6 SRY-box transcription factor 6 gene DOID:630 genetic disease ISO RGD:1319098 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11759830 SOX6 SRY-box transcription factor 6 gene DOID:9003163 Heart Block ISO RGD:1319099 D RGD:9068941 20200609 RGD PMID:10760285|REF_RGD_ID:1580857 11759830 SOX6 SRY-box transcription factor 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319098 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32442410 11759830 SOX6 SRY-box transcription factor 6 gene DOID:9005634 Tolchin-Le Caignec Syndrome ISO RGD:1319098 D RGD:7240710 20200812 OMIM 11759830 SOX6 SRY-box transcription factor 6 gene DOID:9005634 Tolchin-Le Caignec Syndrome ISO RGD:1319098 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Tolchin-Le Caignec syndrome PMID:25741868|PMID:32442410 11759830 SOX6 SRY-box transcription factor 6 gene DOID:9007692 Insulin Resistance ISO RGD:1319099 D RGD:9068941 20200609 RGD PMID:16148004|REF_RGD_ID:1581307 11759830 SOX6 SRY-box transcription factor 6 gene DOID:9008582 Developmental Disease ISO RGD:1319098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11759862 ENSA endosulfine alpha gene DOID:0111940 immunodeficiency 42 ISO RGD:736594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11759862 ENSA endosulfine alpha gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:736594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11759862 ENSA endosulfine alpha gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:736594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11759862 ENSA endosulfine alpha gene DOID:1540 parathyroid carcinoma ISO RGD:736594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11759862 ENSA endosulfine alpha gene DOID:5812 MHC class II deficiency ISO RGD:736594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11759862 ENSA endosulfine alpha gene DOID:9000039 Spinal Cord Injuries ISO RGD:62007 D RGD:9068941 20200609 RGD mRNA:decreased expression:spinal cord PMID:16344894|REF_RGD_ID:2303423 11759862 ENSA endosulfine alpha gene DOID:9007102 Myocardial Ischemia ISO RGD:736594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11759862 ENSA endosulfine alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11759873 TSPAN16 tetraspanin 16 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1349307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11759873 TSPAN16 tetraspanin 16 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1349307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11759873 TSPAN16 tetraspanin 16 gene DOID:0111254 glutaric acidemia I ISO RGD:1349307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11759873 TSPAN16 tetraspanin 16 gene DOID:3413 alpha-mannosidosis ISO RGD:1349307 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11759873 TSPAN16 tetraspanin 16 gene DOID:630 genetic disease ISO RGD:1349307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759896 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1345395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11759896 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome ISO RGD:1345395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome PMID:25741868|PMID:28492532 11759896 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:0080722 Kenny-Caffey syndrome type 1 ISO RGD:1345395 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal recessive Kenny-Caffey syndrome PMID:12389028|PMID:15645691|PMID:2001103|PMID:25741868|PMID:27666369|PMID:7538982|PMID:9475091 11759896 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:0111230 congenital muscular dystrophy-dystroglycanopathy type A11 ISO RGD:1345395 D RGD:7240710 20180130 OMIM 11759896 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:0111230 congenital muscular dystrophy-dystroglycanopathy type A11 ISO RGD:1345395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 PMID:16199547|PMID:17576681|PMID:23453667|PMID:24084573|PMID:25326635|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26663670|PMID:28492532|PMID:29273094|PMID:29302074|PMID:29791932|PMID:31130284|PMID:31428121|PMID:33290285|PMID:9536098 11759896 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:10907 microcephaly ISO RGD:1345395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11759896 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1345395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11759896 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1345395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:28492532 11759896 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:630 genetic disease ISO RGD:1345395 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12389028|PMID:15645691|PMID:16199547|PMID:17576681|PMID:2001103|PMID:23453667|PMID:25741868|PMID:27666369|PMID:28492532|PMID:31130284|PMID:7538982|PMID:9475091|PMID:9536098 11759896 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:9005242 Progressive Encephalopathy with Amyotrophy and Optic Atrophy ISO RGD:1345395 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy PMID:25741868 11759896 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11759916 FOXS1 forkhead box S1 gene DOID:630 genetic disease ISO RGD:1321722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759921 PCDH15 protocadherin related 15 gene DOID:0050439 Usher syndrome ISO RGD:1353280 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15537665|PMID:15660226|PMID:16679490|PMID:17576681|PMID:20301442|PMID:21569298|PMID:22135276|PMID:22183965|PMID:22815625|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24498627|PMID:24831256|PMID:25262649|PMID:25307757|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27460420|PMID:27861356|PMID:28041643|PMID:28281779|PMID:28492532|PMID:28847902|PMID:30245029|PMID:30311386|PMID:30718709|PMID:9536098 11759921 PCDH15 protocadherin related 15 gene DOID:0050439 Usher syndrome ISO RGD:1353280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15537665|PMID:15660226|PMID:16679490|PMID:17576681|PMID:20301442|PMID:21569298|PMID:22135276|PMID:22183965|PMID:22815625|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24498627|PMID:24831256|PMID:25262649|PMID:25307757|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27058588|PMID:27460420|PMID:27861356|PMID:28041643|PMID:28281779|PMID:28492532|PMID:28847902|PMID:30245029|PMID:30311386|PMID:30718709|PMID:9536098 11759921 PCDH15 protocadherin related 15 gene DOID:0050563 nonsyndromic deafness ISO RGD:1353280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Deafness PMID:25741868|PMID:28281779|PMID:28492532 11759921 PCDH15 protocadherin related 15 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1353280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587 11759921 PCDH15 protocadherin related 15 gene DOID:0110481 autosomal recessive nonsyndromic deafness 23 ISO RGD:1353280 D RGD:7240710 20180130 OMIM 11759921 PCDH15 protocadherin related 15 gene DOID:0110481 autosomal recessive nonsyndromic deafness 23 ISO RGD:1353280 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 23 PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15660226|PMID:16679490|PMID:17576681|PMID:18484607|PMID:18719945|PMID:19107147|PMID:19375528|PMID:19683999|PMID:20301442|PMID:21436283|PMID:21569298|PMID:22135276|PMID:22183965|PMID:22815625|PMID:23451239|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24498627|PMID:24705292|PMID:24831256|PMID:24940003|PMID:25262649|PMID:25307757|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26226137|PMID:26467025|PMID:26791358|PMID:26969326|PMID:27058588|PMID:27440999|PMID:27460420|PMID:27861356|PMID:28000701|PMID:28281779|PMID:28492532|PMID:28847902|PMID:30029624|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30718709|PMID:32747562|PMID:33111345|PMID:34440452|PMID:34751129|PMID:35802133|PMID:36633841|PMID:9536098 11759921 PCDH15 protocadherin related 15 gene DOID:0110826 Usher syndrome type 1 ISO RGD:1353280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15537665|PMID:15660226|PMID:16679490|PMID:17576681|PMID:20301442|PMID:20672374|PMID:21569298|PMID:22135276|PMID:22183965|PMID:22815625|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24498627|PMID:24618850|PMID:24831256|PMID:25262649|PMID:25307757|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26969326|PMID:27058588|PMID:27208204|PMID:27460420|PMID:27610647|PMID:27766948|PMID:27861356|PMID:28492532|PMID:28847902|PMID:30245029|PMID:30311386|PMID:30718709|PMID:31054281|PMID:33090715|PMID:9536098 11759921 PCDH15 protocadherin related 15 gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:1353280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome PMID:28492532 11759921 PCDH15 protocadherin related 15 gene DOID:0110831 Usher syndrome type 1D ISO RGD:1353280 D RGD:7240710 20180130 OMIM 11759921 PCDH15 protocadherin related 15 gene DOID:0110831 Usher syndrome type 1D ISO RGD:1353280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15660226|PMID:16199547|PMID:16679490|PMID:17576681|PMID:18484607|PMID:18719945|PMID:19375528|PMID:20301442|PMID:21436283|PMID:21569298|PMID:22135276|PMID:22815625|PMID:22981120|PMID:23451239|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24498627|PMID:24618850|PMID:24831256|PMID:25262649|PMID:25307757|PMID:25468891|PMID:25525159|PMID:25741868|PMID:25999675|PMID:26467025|PMID:26872967|PMID:27058588|PMID:27460420|PMID:27610647|PMID:27766948|PMID:28000701|PMID:28281779|PMID:28492532|PMID:28847902|PMID:29568747|PMID:29625443|PMID:30245029|PMID:30311386|PMID:30718709|PMID:9536098 11759921 PCDH15 protocadherin related 15 gene DOID:0110832 Usher syndrome type 1F ISO RGD:1353280 D RGD:7240710 20180130 OMIM 11759921 PCDH15 protocadherin related 15 gene DOID:0110832 Usher syndrome type 1F ISO RGD:1353280 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE IF | ClinVar Annotator: match by term: Usher syndrome type 1F PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15537665|PMID:15660226|PMID:16199547|PMID:16283880|PMID:16679490|PMID:16963483|PMID:17277737|PMID:17576681|PMID:18484607|PMID:18719945|PMID:19107147|PMID:19375528|PMID:19683999|PMID:20301442|PMID:20538994|PMID:20672374|PMID:21436283|PMID:21569298|PMID:22135276|PMID:22183965|PMID:22815625|PMID:22952768|PMID:22981120|PMID:23451239|PMID:23462753|PMID:23591405|PMID:23767834|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24498627|PMID:24618850|PMID:24705292|PMID:24831256|PMID:24853665|PMID:24940003|PMID:25262649|PMID:25307757|PMID:25333064|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25525159|PMID:25575603|PMID:25741868|PMID:26166082|PMID:26226137|PMID:26279247|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27058588|PMID:27068579|PMID:27208204|PMID:27440999|PMID:27460420|PMID:27583663|PMID:27610647|PMID:27743452|PMID:27766948|PMID:27861356|PMID:28000701|PMID:28281779|PMID:28492532|PMID:28559085|PMID:28847902|PMID:28900111|PMID:28944237|PMID:28968992|PMID:28984810|PMID:29074561|PMID:29568747|PMID:29625443|PMID:30029624|PMID:30054919|PMID:30245029|PMID:30311386|PMID:30459346|PMID:30718709|PMID:31054281|PMID:32467589|PMID:33090715|PMID:33111345|PMID:33576794|PMID:34416374|PMID:34744965|PMID:34751129|PMID:9536098 11759921 PCDH15 protocadherin related 15 gene DOID:0110834 Usher syndrome type 1G ISO RGD:1353280 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1G PMID:11398101|PMID:11487575|PMID:12588794|PMID:12711741|PMID:14570705|PMID:15028842|PMID:20301442|PMID:22815625|PMID:24033266|PMID:24105371|PMID:25262649|PMID:25307757|PMID:25525159|PMID:25741868|PMID:27460420|PMID:28492532 11759921 PCDH15 protocadherin related 15 gene DOID:10487 Hirschsprung's disease ISO RGD:1353280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 11759921 PCDH15 protocadherin related 15 gene DOID:10584 retinitis pigmentosa ISO RGD:1353280 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:25741868|PMID:28492532|PMID:30718709|PMID:9536098 11759921 PCDH15 protocadherin related 15 gene DOID:12849 autistic disorder ISO RGD:1353280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11759921 PCDH15 protocadherin related 15 gene DOID:303 substance-related disorder ISO RGD:1353280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11759921 PCDH15 protocadherin related 15 gene DOID:5419 schizophrenia ISO RGD:1353280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11759921 PCDH15 protocadherin related 15 gene DOID:5463 cochlear disease ISO RGD:1353280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10978835 11759921 PCDH15 protocadherin related 15 gene DOID:630 genetic disease ISO RGD:1353280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 11759921 PCDH15 protocadherin related 15 gene DOID:8501 fundus dystrophy ISO RGD:1353280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11398101|PMID:11487575|PMID:14570705|PMID:22815625|PMID:23451239|PMID:25741868|PMID:26791358|PMID:27208204|PMID:27743452|PMID:28492532|PMID:30311386|PMID:30459346 11759921 PCDH15 protocadherin related 15 gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1353280 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15537665|PMID:15660226|PMID:16679490|PMID:21569298|PMID:22183965|PMID:22815625|PMID:24033266|PMID:24105371|PMID:24498627|PMID:24831256|PMID:25262649|PMID:25307757|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27460420|PMID:27861356|PMID:28492532|PMID:30311386 11759921 PCDH15 protocadherin related 15 gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1353280 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15537665|PMID:15660226|PMID:16679490|PMID:20301442|PMID:21569298|PMID:22183965|PMID:22815625|PMID:24033266|PMID:24105371|PMID:24498627|PMID:24831256|PMID:25262649|PMID:25307757|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27460420|PMID:27861356|PMID:28492532|PMID:30311386 11759921 PCDH15 protocadherin related 15 gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1353280 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15537665|PMID:15660226|PMID:16679490|PMID:17576681|PMID:20301442|PMID:21569298|PMID:22135276|PMID:22183965|PMID:22815625|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24498627|PMID:24831256|PMID:25262649|PMID:25307757|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27460420|PMID:27861356|PMID:28492532|PMID:28847902|PMID:30245029|PMID:30311386|PMID:30718709|PMID:9536098 11759921 PCDH15 protocadherin related 15 gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1353280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15537665|PMID:15660226|PMID:16679490|PMID:17576681|PMID:20301442|PMID:21569298|PMID:22135276|PMID:22183965|PMID:22815625|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24498627|PMID:24831256|PMID:25262649|PMID:25307757|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27058588|PMID:27460420|PMID:27861356|PMID:28492532|PMID:28847902|PMID:30245029|PMID:30311386|PMID:30718709|PMID:9536098 11759921 PCDH15 protocadherin related 15 gene DOID:9004538 Hearing Loss ISO RGD:1353280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:25468891|PMID:25741868|PMID:28492532|PMID:30311386 11759921 PCDH15 protocadherin related 15 gene DOID:9006896 Usher Syndrome, Type ID/F ISO RGD:1353280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC PMID:15537665|PMID:15660226|PMID:24033266 11759921 PCDH15 protocadherin related 15 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1353280 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment PMID:23804846|PMID:25741868|PMID:26226137|PMID:28492532|PMID:30029624 11759921 PCDH15 protocadherin related 15 gene DOID:9008681 Deafness ISO RGD:1353280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10978835 11759921 PCDH15 protocadherin related 15 gene DOID:9008681 Deafness ISO RGD:1590969 D RGD:9068941 20210910 RGD DNA:nonsense mutation:cds:c.2911C>T|p.Arg971X (rat) PMID:19151506|REF_RGD_ID:2306012 11759921 PCDH15 protocadherin related 15 gene DOID:9849 Meniere's disease ISO RGD:1353280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:25741868|PMID:28492532 11759949 CDKN2AIPNL CDKN2A interacting protein N-terminal like gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602992 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11759949 CDKN2AIPNL CDKN2A interacting protein N-terminal like gene DOID:630 genetic disease ISO RGD:1602992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11759949 CDKN2AIPNL CDKN2A interacting protein N-terminal like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11759949 CDKN2AIPNL CDKN2A interacting protein N-terminal like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11759949 CDKN2AIPNL CDKN2A interacting protein N-terminal like gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602992 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11759955 TEK TEK receptor tyrosine kinase gene DOID:0001816 angiosarcoma ISO RGD:1342531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 11759955 TEK TEK receptor tyrosine kinase gene DOID:0050792 multiple cutaneous and mucosal venous malformations ISO RGD:1342531 D RGD:7240710 20180130 OMIM 11759955 TEK TEK receptor tyrosine kinase gene DOID:0050792 multiple cutaneous and mucosal venous malformations ISO RGD:1342531 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Multiple cutaneous and mucosal venous malformations | ClinVar Annotator: match by term: Segmental undergrowth associated with venous malformation without capillary component PMID:10369874|PMID:19888299|PMID:20301733|PMID:25326635|PMID:25741868|PMID:26319232|PMID:27270174|PMID:28492532|PMID:7783168|PMID:7833915|PMID:8415706|PMID:8980225|PMID:9926914 11759955 TEK TEK receptor tyrosine kinase gene DOID:10808 gastric ulcer ISO RGD:620980 D RGD:9068941 20200609 RGD protein:increased expression:stomach PMID:12768384|REF_RGD_ID:1601496 11759955 TEK TEK receptor tyrosine kinase gene DOID:11294 arteriovenous malformation susceptibility ISO RGD:1342531 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.R849W PMID:8980225|REF_RGD_ID:1578533 11759955 TEK TEK receptor tyrosine kinase gene DOID:12176 goiter ISO RGD:620980 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid PMID:11397875|REF_RGD_ID:1601510 11759955 TEK TEK receptor tyrosine kinase gene DOID:12556 acute kidney tubular necrosis ISO RGD:620980 D RGD:9068941 20200609 RGD associated with Kidney Reperfusion Injury PMID:16284088|REF_RGD_ID:1601494 11759955 TEK TEK receptor tyrosine kinase gene DOID:2316 brain ischemia ISO RGD:620980 D RGD:9068941 20200609 RGD PMID:11919509|REF_RGD_ID:634324 11759955 TEK TEK receptor tyrosine kinase gene DOID:3328 temporal lobe epilepsy ISO RGD:1342531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17533168 11759955 TEK TEK receptor tyrosine kinase gene DOID:3393 coronary artery disease ISO RGD:1342531 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:12814387|REF_RGD_ID:1601489 11759955 TEK TEK receptor tyrosine kinase gene DOID:5176 renal Wilms' tumor ISO RGD:1342531 D RGD:9068941 20221103 RGD human tumor in mouse model PMID:18467665|REF_RGD_ID:155631277 11759955 TEK TEK receptor tyrosine kinase gene DOID:5844 myocardial infarction ISO RGD:620980 D RGD:9068941 20200609 RGD protein:increased expression:ventricle myocardium PMID:16714360|REF_RGD_ID:1601493 11759955 TEK TEK receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:1342531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11759955 TEK TEK receptor tyrosine kinase gene DOID:6432 pulmonary hypertension ISO RGD:1342531 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:16917117|REF_RGD_ID:1601487 11759955 TEK TEK receptor tyrosine kinase gene DOID:684 hepatocellular carcinoma ISO RGD:620980 D RGD:9068941 20200609 RGD protein:increased expression PMID:16951510|REF_RGD_ID:1601490 11759955 TEK TEK receptor tyrosine kinase gene DOID:9000388 BOCKENHEIMER SYNDROME ISO RGD:1342531 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Bockenheimer syndrome PMID:25741868 11759955 TEK TEK receptor tyrosine kinase gene DOID:9000970 Focal Nodular Hyperplasia ISO RGD:1342531 D RGD:9068941 20221110 RGD mRNA:decreased expression:liver PMID:23870033|REF_RGD_ID:155646133 11759955 TEK TEK receptor tyrosine kinase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1342531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11956651 11759955 TEK TEK receptor tyrosine kinase gene DOID:9002428 Blue Rubber Bleb Nevus Syndrome ISO RGD:1342531 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Blue rubber bleb nevus PMID:10369874|PMID:20301733|PMID:25741868 11759955 TEK TEK receptor tyrosine kinase gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1342531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:10369874|PMID:19888299|PMID:20301733|PMID:25741868|PMID:26319232|PMID:28492532|PMID:7783168|PMID:7833915|PMID:8415706|PMID:8980225|PMID:9926914 11759955 TEK TEK receptor tyrosine kinase gene DOID:9003204 Neovascularization, Pathologic ISO RGD:1342531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17533168 11759955 TEK TEK receptor tyrosine kinase gene DOID:9005164 Primary Congenital Glaucoma 3, E ISO RGD:1342531 D RGD:7240710 20190315 OMIM 11759955 TEK TEK receptor tyrosine kinase gene DOID:9005164 Primary Congenital Glaucoma 3, E ISO RGD:1342531 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glaucoma 3, primary congenital, E PMID:25741868|PMID:27270174|PMID:28492532 11759955 TEK TEK receptor tyrosine kinase gene DOID:9007147 Glaucoma 3, Primary Infantile, B ISO RGD:1342531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11759955 TEK TEK receptor tyrosine kinase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620980 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ventricle myocardium PMID:12737621|REF_RGD_ID:1601505 11759955 TEK TEK receptor tyrosine kinase gene DOID:9119 acute myeloid leukemia ISO RGD:1342531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:19340004|PMID:28492532 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:2869 D RGD:9068941 20200609 RGD protein:decreased activity:cerebellum (rat) PMID:16909201|REF_RGD_ID:12904886 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:0050700 cardiomyopathy ISO RGD:2869 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:myocardium PMID:17686258|REF_RGD_ID:2311503 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:0050782 Zollinger-Ellison syndrome ISO RGD:68997 D RGD:9068941 20200609 RGD mRNA and protein: increased expression::poor prognosis for high expression PMID:15867218|REF_RGD_ID:7242847 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:0060224 atrial fibrillation ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:68997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:0070004 myeloid neoplasm ISO RGD:68997 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:35568132 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:2869 D RGD:9068941 20200609 RGD associated with Fetal Growth Retardation;mRNA:increased expression:liver (rat) PMID:24275070|REF_RGD_ID:12904726 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:10126 keratoconus ISO RGD:68997 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratoconus 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:10283 prostate cancer disease_progression ISO RGD:68997 D RGD:9068941 20200609 RGD PMID:28972962|REF_RGD_ID:13504752 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:10286 prostate carcinoma ISO RGD:2869 D RGD:9068941 20200609 RGD PMID:18079205|REF_RGD_ID:13504770 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:1059 intellectual disability ISO RGD:68997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:10652 Alzheimer's disease ISO RGD:10766 D RGD:9068941 20200609 RGD PMID:19487308|REF_RGD_ID:10045878 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:10652 Alzheimer's disease ISO RGD:10766 D RGD:9068941 20200609 RGD DNA: haploinsufficiency:: full knockout dies at birth PMID:20409077|REF_RGD_ID:5686420 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:10652 Alzheimer's disease ISO RGD:10766 D RGD:9068941 20200609 RGD protein:increased expression: cerebral cortex: PMID:18479783|REF_RGD_ID:10045894 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:10652 Alzheimer's disease ISO RGD:2869 D RGD:9068941 20200609 RGD PMID:16274856|REF_RGD_ID:10045879 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:10652 Alzheimer's disease ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15750215 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:10652 Alzheimer's disease severity ISO RGD:10766 D RGD:9068941 20200609 RGD PMID:16274856|REF_RGD_ID:10045879 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:10652 Alzheimer's disease severity ISO RGD:68997 D RGD:9068941 20200609 RGD protein:increased expression:temporal cortex: PMID:18479783|REF_RGD_ID:10045894 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:10652 Alzheimer's disease treatment ISO RGD:2869 D RGD:9068941 20200609 RGD PMID:23562514|REF_RGD_ID:12904921 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:10763 hypertension ISO RGD:2869 D RGD:9068941 20200609 RGD protein:increased expression:aorta: PMID:21854769|REF_RGD_ID:10046007 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:68997 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:endothelial cell: PMID:12714661|REF_RGD_ID:10045893 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:11044 gastroschisis ISO RGD:2869 D RGD:9068941 20200609 RGD protein:increased expression:liver, intestine (rat) PMID:23381816|REF_RGD_ID:12904922 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:11132 prostatic hypertrophy ISO RGD:68997 D RGD:9068941 20200609 RGD mRNA: increased expression: prostate PMID:9215294|REF_RGD_ID:7242915 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:11162 respiratory failure ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20620343 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:11383 cryptorchidism ISO RGD:2869 D RGD:9068941 20200609 RGD protein:decreased expression:testis (rat) PMID:7473418|REF_RGD_ID:12904727 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:11476 osteoporosis ISO RGD:68997 D RGD:9068941 20200609 RGD PMID:18079194|REF_RGD_ID:10045888 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:11695 portal vein thrombosis susceptibility ISO RGD:68997 D RGD:9068941 20200609 RGD associated with hepatocellular carcinoma;DNA:SNP:3'UTR:rs3743251(human) PMID:24758241|REF_RGD_ID:14985227 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:11714 gestational diabetes ISO RGD:2869 D RGD:9068941 20200609 RGD PMID:22241286|REF_RGD_ID:10046048 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:68997 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;protein:decreased expression:placenta PMID:16750336|REF_RGD_ID:2311505 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:12217 Lewy body dementia ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:12217 Lewy body dementia ISO RGD:68997 D RGD:9068941 20200609 RGD mRNA:altered expression:brain: PMID:19276553|REF_RGD_ID:5129515 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:12361 Graves' disease ISO RGD:68997 D RGD:9068941 20200609 RGD protein: increased expression: blood: T cells and B cells PMID:18832736|REF_RGD_ID:5686433 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:12858 Huntington's disease ISO RGD:10766 D RGD:9068941 20200609 RGD PMID:25140802|REF_RGD_ID:10045870 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:1307 dementia ISO RGD:68997 D RGD:9068941 20200609 RGD PMID:16983186|REF_RGD_ID:10045873 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:14183 alcoholic neuropathy ISO RGD:2869 D RGD:9068941 20200609 RGD PMID:23016131|REF_RGD_ID:10402569 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:14330 Parkinson's disease ISO RGD:2869 D RGD:9068941 20200609 RGD protein: altered activity PMID:19703168|REF_RGD_ID:5686429 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:14330 Parkinson's disease ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:14330 Parkinson's disease ISO RGD:68997 D RGD:9068941 20200609 RGD mRNA:altered expression:brain: PMID:19276553|REF_RGD_ID:5129515 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:1612 breast cancer ISO RGD:68997 D RGD:9068941 20200609 RGD protein: increased expression PMID:21047775|REF_RGD_ID:7242794 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:1793 pancreatic cancer ISO RGD:68997 D RGD:9068941 20200609 RGD PMID:14559833|PMID:19732452|PMID:19885860|REF_RGD_ID:2317640|REF_RGD_ID:2317642|REF_RGD_ID:2317651 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:2154 nephroblastoma ISO RGD:68997 D RGD:9068941 20200609 RGD PMID:22529373|REF_RGD_ID:7242789 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:2154 nephroblastoma ISO RGD:68997 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (human) PMID:8390684|REF_RGD_ID:12904709 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:2154 nephroblastoma treatment ISO RGD:68997 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:8390684|REF_RGD_ID:12904709 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:10766 D RGD:9068941 20200609 RGD PMID:25442907|REF_RGD_ID:13504768 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:2869 D RGD:9068941 20200609 RGD PMID:8692980|REF_RGD_ID:13504771 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:68997 D RGD:9068941 20200609 RGD PMID:25862373|PMID:26452103|REF_RGD_ID:13504753|REF_RGD_ID:13504767 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:2986 IgA glomerulonephritis ISO RGD:68997 D RGD:9068941 20200609 RGD DNA: snp::rs2229765 PMID:21047277|REF_RGD_ID:7242795 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:3021 acute kidney failure ISO RGD:2869 D RGD:9068941 20200609 RGD mRNA: decreased expression: kidney: both cortex and medulla PMID:9767523|REF_RGD_ID:7242908 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:3070 high grade glioma ISO RGD:68997 D RGD:9068941 20200609 RGD DNA: SNP: : rs2272037 or rs2016347 PMID:18562769|REF_RGD_ID:5686434 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:332 amyotrophic lateral sclerosis onset ISO RGD:2869 D RGD:9068941 20200609 RGD mRNA:decreased expression:spinal cord (rat) PMID:18683239|REF_RGD_ID:12904708 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:3587 pancreatic ductal carcinoma ISO RGD:68997 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:14506643|PMID:14627343|REF_RGD_ID:2317649|REF_RGD_ID:2317652 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:3602 toxic encephalopathy ISO RGD:68997 D RGD:9068941 20200609 RGD DNA: snp: intron: rs1879612: bortezomib induced PMID:20864405|REF_RGD_ID:5686413 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:3827 congenital diaphragmatic hernia ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20620343|PMID:21433279 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:3948 adrenocortical carcinoma ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22407999 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:4248 coronary stenosis ISO RGD:2869 D RGD:9068941 20200609 RGD mRNA:increased expression:myocyte: PMID:8102103|REF_RGD_ID:10046053 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:4450 renal cell carcinoma ISO RGD:2869 D RGD:9068941 20200609 RGD PMID:17952403|REF_RGD_ID:7242846 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:4467 clear cell renal cell carcinoma ISO RGD:68997 D RGD:9068941 20200609 RGD xenograph of human clear cell renal cancer cells in mouse PMID:19509240|REF_RGD_ID:7242921 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:5082 liver cirrhosis susceptibility ISO RGD:68997 D RGD:9068941 20200609 RGD associated with Hepatis B virus;DNA:SNP:3'UTR:rs3743251(human) PMID:24758241|REF_RGD_ID:14985227 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:5577 gastrinoma ISO RGD:68997 D RGD:9068941 20200609 RGD mRNA and protein: increased expression::poor prognosis for high expression PMID:15867218|REF_RGD_ID:7242847 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:574 peripheral nervous system disease ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:5844 myocardial infarction ISO RGD:2869 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:myocyte: PMID:8682060|REF_RGD_ID:10046050 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:630 genetic disease ISO RGD:68997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14657428|PMID:19240156|PMID:21204214|PMID:23073384|PMID:25741868|PMID:28492532|PMID:30848790|PMID:31586944 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:676 juvenile rheumatoid arthritis ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:684 hepatocellular carcinoma ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17441810|PMID:23958494 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:68997 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: : PMID:24758241|REF_RGD_ID:14985227 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:769 neuroblastoma ISO RGD:68997 D RGD:9068941 20200609 RGD protein: decreased tyrosine phosphorylation: : Y1131 PMID:17121898|REF_RGD_ID:7242922 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:7998 hyperthyroidism ISO RGD:2869 D RGD:9068941 20200609 RGD protein:increased expression:myocardium PMID:17447016|REF_RGD_ID:2311524 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:8398 osteoarthritis severity ISO RGD:68997 D RGD:9068941 20200609 RGD mRNA:increased expression:articular cartilage of joint: PMID:8609369|REF_RGD_ID:10045889 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:850 lung disease ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20620343|PMID:21433279 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:8577 ulcerative colitis ISO RGD:68997 D RGD:9068941 20200609 RGD protein:altered expression:colon PMID:18938767|REF_RGD_ID:5686432 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:8725 vascular dementia ISO RGD:68997 D RGD:9068941 20200609 RGD PMID:16983186|REF_RGD_ID:10045873 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:8947 diabetic retinopathy disease_progression ISO RGD:2869 D RGD:9068941 20200609 RGD mRNA:increased expression:retina: PMID:12781065|REF_RGD_ID:10046008 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9000121 Malocclusion ISO RGD:2869 D RGD:9068941 20200609 RGD PMID:22758598|REF_RGD_ID:10045831 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9000145 Insulin-Like Growth Factor I, Resistance To ISO RGD:68997 D RGD:7240710 20180130 OMIM 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9000145 Insulin-Like Growth Factor I, Resistance To ISO RGD:68997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: IGF-I RESISTANCE | ClinVar Annotator: match by term: IGF1R-Related Disorder | ClinVar Annotator: match by term: Insulin-like growth factor 1 resistance to | ClinVar Annotator: match by term: Somatomedin end-organ insensitivity to | ClinVar Annotator: match by term: Somatomedin-c resistance to PMID:14657428|PMID:15799978|PMID:15928254|PMID:16569742|PMID:16894147|PMID:17264177|PMID:18316725|PMID:18989367|PMID:20416304|PMID:20455999|PMID:20625407|PMID:21204214|PMID:22130793|PMID:22309212|PMID:22903739|PMID:23045302|PMID:23073384|PMID:23147026|PMID:23164529|PMID:23431249|PMID:23549953|PMID:23771920|PMID:25040157|PMID:25231023|PMID:25628647|PMID:25741868|PMID:25743390|PMID:26252249|PMID:28492532|PMID:29168297|PMID:29789409|PMID:30848790|PMID:31586944 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:68997 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:16575403|REF_RGD_ID:2317645 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:10766 D RGD:9068941 20200609 RGD PMID:19032681|REF_RGD_ID:10045869 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2869 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:12800242|REF_RGD_ID:10045984 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9001820 Pulmonary Arterial Hypertension treatment ISO RGD:2869 D RGD:9068941 20230223 RGD PMID:30240970|REF_RGD_ID:156430315 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:2869 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:19008912|REF_RGD_ID:10046022 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9002231 Fetal Growth Retardation ISO RGD:2869 D RGD:9068941 20200609 RGD protein:increased expression:liver, lung (rat) PMID:12536576|REF_RGD_ID:12904724 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9002231 Fetal Growth Retardation ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14657428 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9002231 Fetal Growth Retardation ISO RGD:68997 D RGD:9068941 20200609 RGD DNA:point mutation:exon:p.R108Q, p.K115N (human) PMID:14657428|REF_RGD_ID:1624299 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9002231 Fetal Growth Retardation onset ISO RGD:2869 D RGD:9068941 20200609 RGD protein:decreased expression:placenta labyrinth (rat) PMID:24239160|REF_RGD_ID:12904720 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9002278 Metabolic Bone Diseases treatment ISO RGD:2869 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21567076|REF_RGD_ID:6907380 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9002331 Knee Osteoarthritis ISO RGD:68997 D RGD:9068941 20200609 RGD PMID:8948288|REF_RGD_ID:10045874 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9002644 Premature Aging ISO RGD:10766 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver: PMID:19500727|REF_RGD_ID:10045876 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9002916 Hyperphagia ISO RGD:2869 D RGD:9068941 20200609 RGD PMID:17567960|REF_RGD_ID:10046043 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9003936 Cardiomegaly ISO RGD:10766 D RGD:9068941 20200609 RGD PMID:18801929|REF_RGD_ID:2311509 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9004464 Skin Neoplasms ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10365914 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10766 D RGD:9068941 20200609 RGD protein:decreased expression:oviduct PMID:18676006|REF_RGD_ID:2311502 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2869 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:heart PMID:20555424|REF_RGD_ID:4142788 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:2869 D RGD:9068941 20200609 RGD PMID:10090325|REF_RGD_ID:12904918 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9006182 Carotid Artery Injuries treatment ISO RGD:2869 D RGD:9068941 20200609 RGD protein:increased phosphorylation:carotid artery: PMID:17606126|REF_RGD_ID:10046006 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2869 D RGD:9068941 20200609 RGD mRNA: increased expression: kidney: 3 and 5 days post ischemia PMID:10990448|REF_RGD_ID:7242905 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9006257 Growth Disorders ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14657428 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9007096 Stroke ISO RGD:68997 D RGD:9068941 20200609 RGD DNA: SNP: : rs2229765 PMID:18477064|REF_RGD_ID:5686435 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23748240 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9007661 Dwarfism ISO RGD:68997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9007715 Endometrial Neoplasms ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21442237 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9007730 Burns ISO RGD:2869 D RGD:9068941 20200609 RGD protein:decreased expression:skeletal muscle: PMID:25186839|REF_RGD_ID:10046020 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9008091 Optic Nerve Injuries ISO RGD:2869 D RGD:9068941 20200609 RGD protein: altered activity: eye PMID:19484445|REF_RGD_ID:5686431 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9008091 Optic Nerve Injuries ISO RGD:2869 D RGD:9068941 20200609 RGD protein:increased expression:retina: PMID:23648097|REF_RGD_ID:10046025 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:68997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:31837199 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:68997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9008939 Breast Neoplasms ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21057462 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9351 diabetes mellitus ISO RGD:10766 D RGD:9068941 20200609 RGD PMID:16642022|REF_RGD_ID:2311506 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9351 diabetes mellitus ISO RGD:68997 D RGD:9068941 20220527 RGD associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:increased expression:lung (human) PMID:27411924|REF_RGD_ID:152975631 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:2869 D RGD:9068941 20200609 RGD protein:decreased expression:myocardium, blood vessel endothelial cell PMID:18986336|REF_RGD_ID:2306690 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:2869 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:17476475|REF_RGD_ID:2311504 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9620 vesicoureteral reflux ISO RGD:68997 D RGD:9068941 20200609 RGD PMID:14760498|REF_RGD_ID:7242902 11760001 IGF1R insulin like growth factor 1 receptor gene DOID:9970 obesity ISO RGD:2869 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart (rat) PMID:11009458|REF_RGD_ID:12904882 11760028 STPG4 sperm-tail PG-rich repeat containing 4 gene DOID:14671 multiple intestinal atresia ISO RGD:1602960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple gastrointestinal atresias PMID:28492532 11760028 STPG4 sperm-tail PG-rich repeat containing 4 gene DOID:3883 Lynch syndrome ISO RGD:1602960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:28492532|PMID:30374176 11760039 ZDHHC21 zinc finger DHHC-type palmitoyltransferase 21 gene DOID:630 genetic disease ISO RGD:1313969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760067 LOC100983446 serine hydrolase like 2 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1602055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 11760067 LOC100983446 serine hydrolase like 2 gene DOID:1059 intellectual disability ISO RGD:1602055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11760067 LOC100983446 serine hydrolase like 2 gene DOID:630 genetic disease ISO RGD:1602055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760067 LOC100983446 serine hydrolase like 2 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1602055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 11760084 EIF2B2 eukaryotic translation initiation factor 2B subunit beta gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:731256 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:11704758|PMID:12707859|PMID:14566705|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15776425|PMID:18263758|PMID:20301435|PMID:21560189|PMID:22128017|PMID:22430157|PMID:22729508|PMID:22992991|PMID:24033266|PMID:25741868|PMID:26740508|PMID:27159321|PMID:28492532|PMID:29632131|PMID:29706645|PMID:30266093|PMID:31438897|PMID:33432707 11760084 EIF2B2 eukaryotic translation initiation factor 2B subunit beta gene DOID:0070276 hereditary nonpolyposis colorectal cancer type 7 ISO RGD:731256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 7 11760084 EIF2B2 eukaryotic translation initiation factor 2B subunit beta gene DOID:1059 intellectual disability ISO RGD:731256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11760084 EIF2B2 eukaryotic translation initiation factor 2B subunit beta gene DOID:10787 premature menopause ISO RGD:731256 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Premature menopause PMID:29706645 11760084 EIF2B2 eukaryotic translation initiation factor 2B subunit beta gene DOID:3883 Lynch syndrome ISO RGD:731256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25741868 11760084 EIF2B2 eukaryotic translation initiation factor 2B subunit beta gene DOID:5426 primary ovarian insufficiency ISO RGD:731256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:29706645 11760084 EIF2B2 eukaryotic translation initiation factor 2B subunit beta gene DOID:630 genetic disease ISO RGD:731256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14566705|PMID:15776425|PMID:18263758|PMID:21560189|PMID:22128017|PMID:22430157|PMID:24033266|PMID:25741868|PMID:27159321|PMID:28492532|PMID:30266093 11760084 EIF2B2 eukaryotic translation initiation factor 2B subunit beta gene DOID:9002009 Leukoencephalopathy with Vanishing White Matter 2 ISO RGD:731256 D RGD:7240710 20230505 OMIM 11760084 EIF2B2 eukaryotic translation initiation factor 2B subunit beta gene DOID:9002009 Leukoencephalopathy with Vanishing White Matter 2 ISO RGD:731256 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 2 PMID:11704758|PMID:12707859|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15776425|PMID:20301435|PMID:21484434|PMID:21560189|PMID:22729508|PMID:25031760|PMID:25741868|PMID:25843247|PMID:28041799|PMID:28492532|PMID:29700822|PMID:31438897|PMID:33432707 11760084 EIF2B2 eukaryotic translation initiation factor 2B subunit beta gene DOID:9002704 Leukoencephalopathies ISO RGD:731256 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CACH syndrome | ClinVar Annotator: match by term: CACH/VWM syndrome PMID:11704758|PMID:12707859|PMID:14566705|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15776425|PMID:18263758|PMID:20301435|PMID:21560189|PMID:22128017|PMID:22430157|PMID:22729508|PMID:22992991|PMID:24033266|PMID:25741868|PMID:26740508|PMID:27159321|PMID:28492532|PMID:29632131|PMID:29706645|PMID:30266093|PMID:31438897|PMID:33432707 11760084 EIF2B2 eukaryotic translation initiation factor 2B subunit beta gene DOID:9005348 Leukoencephalopathy with Vanishing White Matter 1 ISO RGD:731256 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1 PMID:11704758|PMID:12707859|PMID:14566705|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15776425|PMID:18263758|PMID:20301435|PMID:21560189|PMID:22128017|PMID:22430157|PMID:22729508|PMID:22992991|PMID:24033266|PMID:25741868|PMID:26740508|PMID:27159321|PMID:28492532|PMID:29632131|PMID:29706645|PMID:30266093|PMID:31438897|PMID:33432707 11760084 EIF2B2 eukaryotic translation initiation factor 2B subunit beta gene DOID:9006534 Nervous System Malformations ISO RGD:731256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:21484434|PMID:25031760|PMID:25741868|PMID:25843247|PMID:28041799|PMID:28492532|PMID:29700822 11760097 SOX13 SRY-box transcription factor 13 gene DOID:0080600 COVID-19 ISO RGD:1320144 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11760097 SOX13 SRY-box transcription factor 13 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1320144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11760097 SOX13 SRY-box transcription factor 13 gene DOID:12849 autistic disorder ISO RGD:1320144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11760097 SOX13 SRY-box transcription factor 13 gene DOID:1540 parathyroid carcinoma ISO RGD:1320144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11760097 SOX13 SRY-box transcription factor 13 gene DOID:630 genetic disease ISO RGD:1320144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760097 SOX13 SRY-box transcription factor 13 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1320144 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11760097 SOX13 SRY-box transcription factor 13 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11760127 SUSD6 sushi domain containing 6 gene DOID:630 genetic disease ISO RGD:1349623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760136 GCDH glutaryl-CoA dehydrogenase gene DOID:0050990 episodic ataxia type 2 ISO RGD:1318826 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11760136 GCDH glutaryl-CoA dehydrogenase gene DOID:0060787 hypomyelinating leukodystrophy 2 ISO RGD:1318826 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 PMID:10699052|PMID:11854167|PMID:15505393|PMID:16602100|PMID:17622945|PMID:25741868|PMID:28302372|PMID:28492532|PMID:8900227 11760136 GCDH glutaryl-CoA dehydrogenase gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1318826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11760136 GCDH glutaryl-CoA dehydrogenase gene DOID:0111254 glutaric acidemia I ISO RGD:1318826 D RGD:7240710 20180130 OMIM 11760136 GCDH glutaryl-CoA dehydrogenase gene DOID:0111254 glutaric acidemia I ISO RGD:1318826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10066389|PMID:10371528|PMID:10384381|PMID:10649503|PMID:10699052|PMID:10960496|PMID:11015709|PMID:11024031|PMID:11058907|PMID:11073722|PMID:11174631|PMID:11508549|PMID:11825066|PMID:11854167|PMID:12199454|PMID:12210585|PMID:12473778|PMID:12872844|PMID:12948740|PMID:14691600|PMID:14707522|PMID:15248096|PMID:15318278|PMID:15505393|PMID:15505400|PMID:15573311|PMID:15954035|PMID:16183314|PMID:16199547|PMID:16377226|PMID:16466958|PMID:16488172|PMID:16602100|PMID:16641220|PMID:17188916|PMID:17478444|PMID:17576681|PMID:17622945|PMID:17642054|PMID:17661081|PMID:18285246|PMID:18304851|PMID:18411069|PMID:18459892|PMID:18683078|PMID:18775954|PMID:18926513|PMID:19167251|PMID:19433275|PMID:19433437|PMID:19486177|PMID:1951469|PMID:19630565|PMID:20084589|PMID:20514322|PMID:20629163|PMID:20732827|PMID:20836999|PMID:20960650|PMID:20978942|PMID:21031586|PMID:21176883|PMID:21228398|PMID:21811973|PMID:21912879|PMID:22106832|PMID:22231382|PMID:22728054|PMID:23104440|PMID:23225040|PMID:23395213|PMID:23884036|PMID:24332224|PMID:24795062|PMID:24973495|PMID:25087612|PMID:25190159|PMID:25204480|PMID:25255367|PMID:25256449|PMID:25590979|PMID:25735478|PMID:25741868|PMID:25762492|PMID:25863083|PMID:26071121|PMID:26316201|PMID:26589311|PMID:26593172|PMID:26633542|PMID:26656312|PMID:26847429|PMID:27243974|PMID:27250579|PMID:27351573|PMID:27397597|PMID:27476540|PMID:27629047|PMID:27672653|PMID:27896087|PMID:28062662|PMID:28143689|PMID:28302372|PMID:28352331|PMID:28389991|PMID:28411331|PMID:28438223|PMID:28492532|PMID:28781846|PMID:28794906|PMID:28991257|PMID:29086383|PMID:29201125|PMID:29292490|PMID:29419857|PMID:29665094|PMID:30203563|PMID:30217722|PMID:30298489|PMID:30512148|PMID:30570710|PMID:30838298|PMID:31062211|PMID:31130284|PMID:31302874|PMID:31319225|PMID:31491587|PMID:31536184|PMID:31589614|PMID:31788423|PMID:31952437|PMID:32005694|PMID:32240488|PMID:32508882|PMID:32778825|PMID:32992790|PMID:33064266|PMID:33116287|PMID:33123633|PMID:33138774|PMID:33728242|PMID:34207159|PMID:34258142|PMID:34306040|PMID:34344405|PMID:34394177|PMID:34504725|PMID:35281663|PMID:6377226|PMID:7795610|PMID:8541831|PMID:8900227|PMID:8900228|PMID:9266361|PMID:9536098|PMID:9600243|PMID:9711871|PMID:9856558|PMID:9881681 11760136 GCDH glutaryl-CoA dehydrogenase gene DOID:0111400 congenital dyserythropoietic anemia type IV ISO RGD:1318826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type IV PMID:11825066|PMID:17576681|PMID:25741868|PMID:28492532|PMID:31536184|PMID:7795610|PMID:9536098 11760136 GCDH glutaryl-CoA dehydrogenase gene DOID:1059 intellectual disability ISO RGD:1318826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11760136 GCDH glutaryl-CoA dehydrogenase gene DOID:3413 alpha-mannosidosis ISO RGD:1318826 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11760136 GCDH glutaryl-CoA dehydrogenase gene DOID:630 genetic disease ISO RGD:1318826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10649503|PMID:10699052|PMID:10960496|PMID:11073722|PMID:15505393|PMID:18459892|PMID:18775954|PMID:19433275|PMID:20732827|PMID:21912879|PMID:24332224|PMID:24973495|PMID:25256449|PMID:25741868|PMID:25762492|PMID:26071121|PMID:26847429|PMID:27397597|PMID:28352331|PMID:28438223|PMID:28492532|PMID:28794906|PMID:30570710|PMID:31062211|PMID:31491587|PMID:31536184|PMID:32240488|PMID:32992790|PMID:35281663|PMID:8900227|PMID:9266361|PMID:9600243|PMID:9711871|PMID:9881681 11760136 GCDH glutaryl-CoA dehydrogenase gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1318826 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 PMID:28492532 11760136 GCDH glutaryl-CoA dehydrogenase gene DOID:9009132 Glutaric Aciduria ISO RGD:1318826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric acidemia PMID:25741868|PMID:28492532 11760155 SDF2 stromal cell derived factor 2 gene DOID:630 genetic disease ISO RGD:1316372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760163 ATXN7L1 ataxin 7 like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11760163 ATXN7L1 ataxin 7 like 1 gene DOID:630 genetic disease ISO RGD:1345348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760179 ZNF281 zinc finger protein 281 gene DOID:1540 parathyroid carcinoma ISO RGD:1312996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11760179 ZNF281 zinc finger protein 281 gene DOID:630 genetic disease ISO RGD:1312996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760179 ZNF281 zinc finger protein 281 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11760191 BBS4 Bardet-Biedl syndrome 4 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1319306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:20177705|PMID:20498079|PMID:25741868|PMID:28492532 11760191 BBS4 Bardet-Biedl syndrome 4 gene DOID:0110126 Bardet-Biedl syndrome 4 ISO RGD:1319306 D RGD:7240710 20180130 OMIM 11760191 BBS4 Bardet-Biedl syndrome 4 gene DOID:0110126 Bardet-Biedl syndrome 4 ISO RGD:1319306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 4 PMID:11381270|PMID:12016587|PMID:12524598|PMID:12872256|PMID:15654695|PMID:15666242|PMID:16199547|PMID:17576681|PMID:19858128|PMID:20177705|PMID:20498079|PMID:21344540|PMID:22353939|PMID:25741868|PMID:26518167|PMID:27208204|PMID:27486776|PMID:27894351|PMID:28492532|PMID:29039417|PMID:31980526|PMID:388431|PMID:7711739|PMID:9536098 11760191 BBS4 Bardet-Biedl syndrome 4 gene DOID:0110225 Brugada syndrome 8 ISO RGD:1319306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 11760191 BBS4 Bardet-Biedl syndrome 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1319306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11381270|PMID:12016587|PMID:20177705|PMID:25741868|PMID:27894351|PMID:28492532|PMID:32531858 11760191 BBS4 Bardet-Biedl syndrome 4 gene DOID:1059 intellectual disability ISO RGD:1319306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11760191 BBS4 Bardet-Biedl syndrome 4 gene DOID:11981 morbid obesity susceptibility ISO RGD:1319306 D RGD:9068941 20200609 RGD DNA:SNPs PMID:17003356|REF_RGD_ID:1601311 11760191 BBS4 Bardet-Biedl syndrome 4 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1319306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11381270|PMID:12016587|PMID:12524598|PMID:12872256|PMID:15654695|PMID:15666242|PMID:15770229|PMID:16199547|PMID:17558852|PMID:17576681|PMID:19402160|PMID:19858128|PMID:20177705|PMID:20498079|PMID:21344540|PMID:22353939|PMID:23591405|PMID:24849935|PMID:25741868|PMID:27208204|PMID:27486776|PMID:27894351|PMID:28492532|PMID:30614526|PMID:30718709|PMID:31980526|PMID:32531858|PMID:388431|PMID:7711739|PMID:9536098 11760191 BBS4 Bardet-Biedl syndrome 4 gene DOID:2717 Bloom syndrome ISO RGD:1319306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11760191 BBS4 Bardet-Biedl syndrome 4 gene DOID:3320 Tay-Sachs disease ISO RGD:1319306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 11760191 BBS4 Bardet-Biedl syndrome 4 gene DOID:5419 schizophrenia ISO RGD:1319306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11760191 BBS4 Bardet-Biedl syndrome 4 gene DOID:630 genetic disease ISO RGD:1319306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11760191 BBS4 Bardet-Biedl syndrome 4 gene DOID:8466 retinal degeneration severity ISO RGD:1323204 D RGD:9068941 20200609 RGD PMID:23943788|REF_RGD_ID:11537379 11760191 BBS4 Bardet-Biedl syndrome 4 gene DOID:8501 fundus dystrophy ISO RGD:1319306 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11381270|PMID:12016587|PMID:16199547|PMID:17576681|PMID:20177705|PMID:27208204|PMID:27894351|PMID:28492532|PMID:9536098 11760191 BBS4 Bardet-Biedl syndrome 4 gene DOID:9256 colorectal cancer ISO RGD:1319306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11760191 BBS4 Bardet-Biedl syndrome 4 gene DOID:9970 obesity ISO RGD:1319307 D RGD:9068941 20220825 MouseDO OMIM:601665 11760191 BBS4 Bardet-Biedl syndrome 4 gene DOID:9970 obesity onset ISO RGD:1319306 D RGD:9068941 20200609 RGD DNA:SNPs PMID:17003356|REF_RGD_ID:1601311 11760219 ARHGEF4 Rho guanine nucleotide exchange factor 4 gene DOID:5419 schizophrenia ISO RGD:1312054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11760219 ARHGEF4 Rho guanine nucleotide exchange factor 4 gene DOID:630 genetic disease ISO RGD:1312054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760244 GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1321743 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 11760244 GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 gene DOID:0080600 COVID-19 ISO RGD:1321743 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11760244 GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1321743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11760244 GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 gene DOID:630 genetic disease ISO RGD:1321743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:31619059|PMID:9536098 11760244 GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 gene DOID:9000346 Congenital Disorder of Glycosylation Type IIt ISO RGD:1321743 D RGD:7240710 20200610 OMIM 11760244 GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 gene DOID:9000346 Congenital Disorder of Glycosylation Type IIt ISO RGD:1321743 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type iit PMID:25741868|PMID:27508872|PMID:28097321|PMID:28492532|PMID:32293671 11760244 GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1321743 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 11760244 GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11760263 OPTC opticin gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1312631 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11760263 OPTC opticin gene DOID:1540 parathyroid carcinoma ISO RGD:1312631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11760263 OPTC opticin gene DOID:630 genetic disease ISO RGD:1312631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760263 OPTC opticin gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1312631 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11760263 OPTC opticin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11760278 C12H12orf40 chromosome 12 C12orf40 homolog gene DOID:630 genetic disease ISO RGD:1606924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760295 NUCB1 nucleobindin 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:734023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 11760295 NUCB1 nucleobindin 1 gene DOID:630 genetic disease ISO RGD:734023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760317 LGALS4 galectin 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1351726 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11760317 LGALS4 galectin 4 gene DOID:630 genetic disease ISO RGD:1351726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760317 LGALS4 galectin 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351726 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11760329 SLC22A11 solute carrier family 22 member 11 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1353940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11760329 SLC22A11 solute carrier family 22 member 11 gene DOID:1059 intellectual disability ISO RGD:1353940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11760329 SLC22A11 solute carrier family 22 member 11 gene DOID:3070 high grade glioma ISO RGD:1353940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11760329 SLC22A11 solute carrier family 22 member 11 gene DOID:630 genetic disease ISO RGD:1353940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760349 MANSC1 MANSC domain containing 1 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1353615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 11760349 MANSC1 MANSC domain containing 1 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1353615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 11760349 MANSC1 MANSC domain containing 1 gene DOID:630 genetic disease ISO RGD:1353615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760360 CALY calcyon neuron specific vesicular protein gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1601759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11760360 CALY calcyon neuron specific vesicular protein gene DOID:10825 essential hypertension ISO RGD:1601759 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:30753204 11760360 CALY calcyon neuron specific vesicular protein gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1601759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30753204 11760360 CALY calcyon neuron specific vesicular protein gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1601759 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :rs4838721, rs2275723 (human) PMID:16172615|REF_RGD_ID:15092091 11760360 CALY calcyon neuron specific vesicular protein gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:621719 D RGD:9068941 20200609 RGD PMID:19690230|REF_RGD_ID:15092092 11760360 CALY calcyon neuron specific vesicular protein gene DOID:5419 schizophrenia ISO RGD:1601759 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:16786528|REF_RGD_ID:15097510 11760360 CALY calcyon neuron specific vesicular protein gene DOID:5419 schizophrenia ISO RGD:1601759 D RGD:9068941 20200609 RGD protein:increased expression:prefrontal cortex PMID:12622665|REF_RGD_ID:15092089 11760360 CALY calcyon neuron specific vesicular protein gene DOID:630 genetic disease ISO RGD:1601759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760360 CALY calcyon neuron specific vesicular protein gene DOID:9006205 Animal Disease Models ISO RGD:1601759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30753204 11760360 CALY calcyon neuron specific vesicular protein gene DOID:9008023 Memory Disorders ISO RGD:1601759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30753204 11760368 RAB24 RAB24, member RAS oncogene family gene DOID:0050753 cerebellar ataxia ISO RGD:12062566 D RGD:9068941 20210604 OMIA Ataxia, cerebellar, juvenile to adolescent, RAB24-related PMID:11043686|PMID:24516392|PMID:3973637|PMID:6502189|PMID:7341602|PMID:7440348 11760368 RAB24 RAB24, member RAS oncogene family gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1344346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11760368 RAB24 RAB24, member RAS oncogene family gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1344346 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs1128287) C>A (human) PMID:27354594|REF_RGD_ID:152177496 11760368 RAB24 RAB24, member RAS oncogene family gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1344346 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11760368 RAB24 RAB24, member RAS oncogene family gene DOID:0112103 Sotos syndrome 1 ISO RGD:1344346 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 11760368 RAB24 RAB24, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1344346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760368 RAB24 RAB24, member RAS oncogene family gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1344346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11760368 RAB24 RAB24, member RAS oncogene family gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1344346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 11760422 ZNF26 zinc finger protein 26 gene DOID:630 genetic disease ISO RGD:1347458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760422 ZNF26 zinc finger protein 26 gene DOID:9256 colorectal cancer ISO RGD:1347458 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:23230001|PMID:25948378|PMID:28492532|PMID:30503519 11760477 MUCL3 mucin like 3 gene DOID:0050553 JMP syndrome ISO RGD:1346376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11760477 MUCL3 mucin like 3 gene DOID:11372 megacolon ISO RGD:1346376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11760477 MUCL3 mucin like 3 gene DOID:630 genetic disease ISO RGD:1346376 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760477 MUCL3 mucin like 3 gene DOID:9007425 Diffuse Panbronchiolitis ISO RGD:1346376 D RGD:9068941 20230506 CTD CTD Direct Evidence: marker/mechanism PMID:22152429 11760484 EXD2 exonuclease 3'-5' domain containing 2 gene DOID:630 genetic disease ISO RGD:1322357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760546 POU1F1 POU class 1 homeobox 1 gene DOID:0060870 isolated growth hormone deficiency ISO RGD:732450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9392392 11760546 POU1F1 POU class 1 homeobox 1 gene DOID:0111227 chromosome 3-linked frontotemporal dementia ISO RGD:732450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 PMID:28492532 11760546 POU1F1 POU class 1 homeobox 1 gene DOID:53 pituitary gland disease ISO RGD:732450 D RGD:9068941 20200609 RGD combined piuitary hormone deficiency;DNA:point mutation:exon:R172X PMID:1302000|REF_RGD_ID:1601432 11760546 POU1F1 POU class 1 homeobox 1 gene DOID:630 genetic disease ISO RGD:732450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:30266296 11760546 POU1F1 POU class 1 homeobox 1 gene DOID:9003666 Combined Pituitary Hormone Deficiency ISO RGD:732450 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined PMID:28492532 11760546 POU1F1 POU class 1 homeobox 1 gene DOID:9005344 Combined Pituitary Hormone Deficiency 1 ISO RGD:732450 D RGD:7240710 20180130 OMIM 11760546 POU1F1 POU class 1 homeobox 1 gene DOID:9005344 Combined Pituitary Hormone Deficiency 1 ISO RGD:732450 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 PMID:11297581|PMID:11924936|PMID:12629113|PMID:1271194|PMID:12904605|PMID:1302000|PMID:1472057|PMID:1509262|PMID:1509263|PMID:15928241|PMID:16968807|PMID:25741868|PMID:2634610|PMID:26467025|PMID:27541381|PMID:28492532|PMID:7670563|PMID:7721104|PMID:7833912|PMID:8768831|PMID:9392392|PMID:9588494|PMID:9626142 11760546 POU1F1 POU class 1 homeobox 1 gene DOID:9008340 Combined Pituitary Hormone Deficiency, 2 ISO RGD:732450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive PMID:25741868|PMID:26467025|PMID:28492532 11760546 POU1F1 POU class 1 homeobox 1 gene DOID:9255 frontotemporal dementia ISO RGD:732450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:25741868|PMID:26467025|PMID:28492532 11760546 POU1F1 POU class 1 homeobox 1 gene DOID:9410 panhypopituitarism ISO RGD:732450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined PMID:28492532 11760559 HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1344226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 11760559 HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1344226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11760559 HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:10316 pneumoconiosis ISO RGD:1344226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 11760559 HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:1826 epilepsy ISO RGD:1344226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11760559 HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11760559 HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:630 genetic disease ISO RGD:1344226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760559 HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:9007991 Hereditary Angioedema 8 ISO RGD:1344226 D RGD:7240710 20210811 OMIM 11760559 HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:9007991 Hereditary Angioedema 8 ISO RGD:1344226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angioedema, hereditary, 8 PMID:33508266 11760563 SCAF11 SR-related CTD associated factor 11 gene DOID:630 genetic disease ISO RGD:1354010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760582 FANCE FA complementation group E gene DOID:0050553 JMP syndrome ISO RGD:1354425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11760582 FANCE FA complementation group E gene DOID:0111084 Fanconi anemia complementation group E ISO RGD:1354425 D RGD:7240710 20180130 OMIM 11760582 FANCE FA complementation group E gene DOID:0111084 Fanconi anemia complementation group E ISO RGD:1354425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group E PMID:10205272|PMID:11001585|PMID:14695169|PMID:15609317|PMID:16199547|PMID:16774934|PMID:17308347|PMID:17576681|PMID:17924555|PMID:18271933|PMID:21279724|PMID:22778927|PMID:24033266|PMID:24728327|PMID:25058500|PMID:25741868|PMID:26822949|PMID:27165003|PMID:27913932|PMID:28492532|PMID:30609409|PMID:31102422|PMID:32487094|PMID:32546565|PMID:32947577|PMID:33084842|PMID:33326660|PMID:7662964|PMID:9382107|PMID:9536098 11760582 FANCE FA complementation group E gene DOID:10907 microcephaly ISO RGD:1354425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11760582 FANCE FA complementation group E gene DOID:13636 Fanconi anemia ISO RGD:1354425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:24728327|PMID:25741868|PMID:28492532|PMID:32546565|PMID:33084842|PMID:33326660 11760582 FANCE FA complementation group E gene DOID:1520 colon carcinoma ISO RGD:1354425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:25058500|PMID:27165003|PMID:28492532 11760582 FANCE FA complementation group E gene DOID:1612 breast cancer ISO RGD:1354425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532 11760582 FANCE FA complementation group E gene DOID:2394 ovarian cancer ISO RGD:1354425 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:28492532 11760582 FANCE FA complementation group E gene DOID:4905 pancreatic carcinoma ISO RGD:1354425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:11001585|PMID:17924555|PMID:21279724|PMID:25741868|PMID:26822949|PMID:28492532 11760582 FANCE FA complementation group E gene DOID:5426 primary ovarian insufficiency ISO RGD:1614308 D RGD:9068941 20200609 RGD PMID:26939056|REF_RGD_ID:11344915 11760582 FANCE FA complementation group E gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1354425 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:33326660 11760582 FANCE FA complementation group E gene DOID:630 genetic disease ISO RGD:1354425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11760596 LEPR leptin receptor gene DOID:0050700 cardiomyopathy ISO RGD:735832 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33345901 11760596 LEPR leptin receptor gene DOID:0050847 sleep apnea ISO RGD:735832 D RGD:9068941 20200609 RGD PMID:11896492|REF_RGD_ID:5128873 11760596 LEPR leptin receptor gene DOID:0050848 obstructive sleep apnea susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.Q223R (human) PMID:18204169|REF_RGD_ID:5128855 11760596 LEPR leptin receptor gene DOID:0050855 renal fibrosis disease_progression ISO RGD:3001 D RGD:9068941 20200709 RGD PMID:27465994|REF_RGD_ID:12911217 11760596 LEPR leptin receptor gene DOID:0080001 bone disease ISO RGD:735832 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:28130181 11760596 LEPR leptin receptor gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:10865 D RGD:9068941 20220825 MouseDO OMIM:613282 | OMIM:613387 11760596 LEPR leptin receptor gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:intron:c.2673+1118C>T (rs6700896) (human) PMID:22215535|REF_RGD_ID:14696694 11760596 LEPR leptin receptor gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.Q223R(human) PMID:27257426|REF_RGD_ID:21079462 11760596 LEPR leptin receptor gene DOID:0080547 non-alcoholic steatohepatitis susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:SNPs: : (rs1137100, rs1137101) (human) PMID:23278404|REF_RGD_ID:14696696 11760596 LEPR leptin receptor gene DOID:1059 intellectual disability ISO RGD:735832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11760596 LEPR leptin receptor gene DOID:10591 pre-eclampsia ISO RGD:3001 D RGD:9068941 20200609 RGD protein:increased expression:placenta PMID:16021089|REF_RGD_ID:5128718 11760596 LEPR leptin receptor gene DOID:10603 glucose intolerance ISO RGD:3001 D RGD:9068941 20200609 RGD PMID:26537785|PMID:27465994|REF_RGD_ID:12911216|REF_RGD_ID:12911217 11760596 LEPR leptin receptor gene DOID:10603 glucose intolerance ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19452630|PMID:25367288|PMID:28611668|PMID:29988851 11760596 LEPR leptin receptor gene DOID:10605 short bowel syndrome ISO RGD:3001 D RGD:9068941 20200609 RGD mRNA:increased expression:small intestine PMID:19730157|REF_RGD_ID:5128624 11760596 LEPR leptin receptor gene DOID:1074 kidney failure ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29988851 11760596 LEPR leptin receptor gene DOID:10763 hypertension ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22949526 11760596 LEPR leptin receptor gene DOID:10763 hypertension ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:polymorphisms:exons PMID:10999797|REF_RGD_ID:5129161 11760596 LEPR leptin receptor gene DOID:10763 hypertension disease_progression ISO RGD:3001 D RGD:9068941 20201211 RGD PMID:27465994|REF_RGD_ID:12911217 11760596 LEPR leptin receptor gene DOID:10952 nephritis ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29988851 11760596 LEPR leptin receptor gene DOID:11476 osteoporosis susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:missense mutations:CDS:p.K109R, Q223R (human) PMID:23460508|REF_RGD_ID:10411886 11760596 LEPR leptin receptor gene DOID:1168 familial hyperlipidemia ISO RGD:735832 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:25222487|PMID:33345901 11760596 LEPR leptin receptor gene DOID:11714 gestational diabetes ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20421132 11760596 LEPR leptin receptor gene DOID:11981 morbid obesity ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9537324 11760596 LEPR leptin receptor gene DOID:12236 primary biliary cholangitis ISO RGD:735832 D RGD:9068941 20200609 RGD protein:increased expression:blood serum PMID:16093869|REF_RGD_ID:10411894 11760596 LEPR leptin receptor gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:missense mutation:CDS:p.Q223R (human) PMID:19337797|REF_RGD_ID:2311129 11760596 LEPR leptin receptor gene DOID:1924 hypogonadism ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17229951 11760596 LEPR leptin receptor gene DOID:2018 hyperinsulinism ISO RGD:3001 D RGD:9068941 20200609 RGD PMID:26537785|REF_RGD_ID:12911216 11760596 LEPR leptin receptor gene DOID:2018 hyperinsulinism ISO RGD:735832 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:15093691|PMID:22949526|PMID:24384915|PMID:25222487|PMID:29988851|PMID:30689673|PMID:33345901|PMID:3519326 11760596 LEPR leptin receptor gene DOID:2349 arteriosclerosis ISO RGD:735832 D RGD:9068941 20200609 RGD PMID:11460888|REF_RGD_ID:1581846 11760596 LEPR leptin receptor gene DOID:26 pancreas disease ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3519326 11760596 LEPR leptin receptor gene DOID:2999 granulosa cell tumor ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28861689 11760596 LEPR leptin receptor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735832 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:19196818|REF_RGD_ID:5128813 11760596 LEPR leptin receptor gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:19196818|REF_RGD_ID:5128813 11760596 LEPR leptin receptor gene DOID:3393 coronary artery disease susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:missense mutation:CDS:p.Q223R (human) PMID:27257426|REF_RGD_ID:21079462 11760596 LEPR leptin receptor gene DOID:3770 pulmonary fibrosis ISO RGD:10865 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:21317313|REF_RGD_ID:5128773 11760596 LEPR leptin receptor gene DOID:4195 hyperglycemia ISO RGD:3001 D RGD:9068941 20200609 RGD PMID:26537785|REF_RGD_ID:12911216 11760596 LEPR leptin receptor gene DOID:4195 hyperglycemia ISO RGD:735832 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:15093691|PMID:17065336|PMID:19682441|PMID:20567778|PMID:24384915|PMID:28130181|PMID:29143802|PMID:29743445|PMID:29988851|PMID:29991592|PMID:30635400|PMID:33345901|PMID:3519326|PMID:35235096 11760596 LEPR leptin receptor gene DOID:4989 pancreatitis ISO RGD:3001 D RGD:9068941 20200609 RGD DNA:missense mutation:CDS:p.Q269P (rat) PMID:21836382|REF_RGD_ID:10412020 11760596 LEPR leptin receptor gene DOID:5016 hepatocellular clear cell carcinoma ISO RGD:735832 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:20723213|REF_RGD_ID:14696785 11760596 LEPR leptin receptor gene DOID:5223 infertility ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15093691 11760596 LEPR leptin receptor gene DOID:5223 infertility treatment ISO RGD:10865 D RGD:9068941 20200609 RGD PMID:16284652|REF_RGD_ID:10412018 11760596 LEPR leptin receptor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735832 D RGD:9068941 20200609 RGD protein:increased phosphorylation:peripheral blood mononuclear cell PMID:12100031|REF_RGD_ID:21079471 11760596 LEPR leptin receptor gene DOID:53 pituitary gland disease ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9537324 11760596 LEPR leptin receptor gene DOID:5426 primary ovarian insufficiency ISO RGD:735832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11760596 LEPR leptin receptor gene DOID:557 kidney disease ISO RGD:735832 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:20567778|PMID:33345901 11760596 LEPR leptin receptor gene DOID:576 proteinuria ISO RGD:3001 D RGD:9068941 20201211 RGD compared to SS/JrHsdMcwi PMID:27465994|REF_RGD_ID:12911217 11760596 LEPR leptin receptor gene DOID:576 proteinuria sexual_dimorphism ISO RGD:3001 D RGD:9068941 20201211 RGD compared to BN PMID:20159938|REF_RGD_ID:7365117 11760596 LEPR leptin receptor gene DOID:6000 congestive heart failure ISO RGD:10865 D RGD:9068941 20200609 RGD protein:increased phosphorylation:heart PMID:18006469|REF_RGD_ID:5128823 11760596 LEPR leptin receptor gene DOID:612 primary immunodeficiency disease ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17229951 11760596 LEPR leptin receptor gene DOID:630 genetic disease ISO RGD:735832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 11760596 LEPR leptin receptor gene DOID:6432 pulmonary hypertension ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30689673 11760596 LEPR leptin receptor gene DOID:655 inherited metabolic disorder ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17229951 11760596 LEPR leptin receptor gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic;DNA:missense mutations:cds:p.Q223R, p.K109R (human) PMID:23090836|REF_RGD_ID:21079466 11760596 LEPR leptin receptor gene DOID:784 chronic kidney disease ISO RGD:3001 D RGD:9068941 20201211 RGD PMID:27465994|PMID:32390513|REF_RGD_ID:12911217|REF_RGD_ID:34888223 11760596 LEPR leptin receptor gene DOID:9000784 Fibrosis ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20567778|PMID:29988851 11760596 LEPR leptin receptor gene DOID:9001239 Delayed Puberty ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17229951 11760596 LEPR leptin receptor gene DOID:9001472 Nasal Polyps ISO RGD:735832 D RGD:9068941 20200609 RGD mRNA:increased expression:nose PMID:20422702|REF_RGD_ID:5129163 11760596 LEPR leptin receptor gene DOID:9001542 Albuminuria ISO RGD:735832 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:17065336|PMID:20175764|PMID:23159718|PMID:28130181|PMID:29988851 11760596 LEPR leptin receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3001 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:23886859|REF_RGD_ID:10412036 11760596 LEPR leptin receptor gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:735832 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35235096 11760596 LEPR leptin receptor gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:10865 D RGD:9068941 20200609 RGD PMID:21148797|REF_RGD_ID:5128846 11760596 LEPR leptin receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:735832 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:28130181|PMID:29988851 11760596 LEPR leptin receptor gene DOID:9002211 Hyperalgesia ISO RGD:735832 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:29143802 11760596 LEPR leptin receptor gene DOID:9002331 Knee Osteoarthritis ISO RGD:735832 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:23575542|REF_RGD_ID:10411887 11760596 LEPR leptin receptor gene DOID:9002331 Knee Osteoarthritis susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:SNP:CDS:668A>G (human) PMID:23575542|REF_RGD_ID:10411887 11760596 LEPR leptin receptor gene DOID:9002407 Spinal Fractures susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:missense mutation:CDS:p.Q223R (human) PMID:17243864|REF_RGD_ID:10411889 11760596 LEPR leptin receptor gene DOID:9002569 Overweight ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23038009 11760596 LEPR leptin receptor gene DOID:9002916 Hyperphagia ISO RGD:3001 D RGD:9068941 20200609 RGD PMID:26537785|REF_RGD_ID:12911216 11760596 LEPR leptin receptor gene DOID:9002916 Hyperphagia ISO RGD:3001 D RGD:9068941 20201211 RGD compared to age-matched lean +/fa rats PMID:9843879|REF_RGD_ID:628910 11760596 LEPR leptin receptor gene DOID:9002916 Hyperphagia ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15093691|PMID:17229951|PMID:3519326 11760596 LEPR leptin receptor gene DOID:9003370 Dyslipidemias ISO RGD:3001 D RGD:9068941 20200609 RGD PMID:26537785|REF_RGD_ID:12911216 11760596 LEPR leptin receptor gene DOID:9003370 Dyslipidemias ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20567778|PMID:29988851 11760596 LEPR leptin receptor gene DOID:9004017 Chronic Hepatitis C ISO RGD:735832 D RGD:9068941 20200609 RGD mRNA:altered expression:liver, peripheral blood mononuclear cell PMID:17060687|REF_RGD_ID:21079470 11760596 LEPR leptin receptor gene DOID:9004272 Varicose Ulcer ISO RGD:735832 D RGD:9068941 20200609 RGD mRNA:decreased expression:skin PMID:22773832|REF_RGD_ID:10412021 11760596 LEPR leptin receptor gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3001 D RGD:9068941 20200609 RGD PMID:18469142|REF_RGD_ID:5129122 11760596 LEPR leptin receptor gene DOID:9004657 Weight Gain ISO RGD:735832 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:15809509|PMID:29143802|PMID:29988851 11760596 LEPR leptin receptor gene DOID:9004946 Leptin Receptor Deficiency ISO RGD:735832 D RGD:7240710 20180130 OMIM 11760596 LEPR leptin receptor gene DOID:9004946 Leptin Receptor Deficiency ISO RGD:735832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leptin receptor deficiency PMID:11354636|PMID:11380591|PMID:11443193|PMID:12006639|PMID:12646666|PMID:15585384|PMID:16284652|PMID:17229951|PMID:17785359|PMID:18212354|PMID:18490929|PMID:18703626|PMID:21393862|PMID:21744741|PMID:22331430|PMID:22810975|PMID:24611737|PMID:25741868|PMID:26094658|PMID:26467025|PMID:28492532|PMID:29970488|PMID:31237021|PMID:8666155|PMID:9144432|PMID:9537324|PMID:9860295 11760596 LEPR leptin receptor gene DOID:9005369 Hepatomegaly ISO RGD:735832 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:23038009|PMID:29743445 11760596 LEPR leptin receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735832 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:15093691|PMID:16427799|PMID:17065336|PMID:19452630|PMID:19478208|PMID:20567778|PMID:22933112|PMID:24263156|PMID:26939912|PMID:27151219|PMID:30635400|PMID:35472412 11760596 LEPR leptin receptor gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30689673 11760596 LEPR leptin receptor gene DOID:9006205 Animal Disease Models ISO RGD:735832 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35235096 11760596 LEPR leptin receptor gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:735832 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35235096 11760596 LEPR leptin receptor gene DOID:9007102 Myocardial Ischemia susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:missense mutation:CDS:p.Q223R (human) PMID:19337797|REF_RGD_ID:2311129 11760596 LEPR leptin receptor gene DOID:9007284 Precocious Puberty ISO RGD:735832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral precocious puberty 11760596 LEPR leptin receptor gene DOID:9007402 Gliosis ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29191728 11760596 LEPR leptin receptor gene DOID:9007456 Female Infertility ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22265003 11760596 LEPR leptin receptor gene DOID:9007692 Insulin Resistance ISO RGD:3001 D RGD:9068941 20200609 RGD PMID:23154293|REF_RGD_ID:13432147 11760596 LEPR leptin receptor gene DOID:9007692 Insulin Resistance ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19452630|PMID:20567778|PMID:25367288|PMID:28611668|PMID:29988851|PMID:30689673 11760596 LEPR leptin receptor gene DOID:9007692 Insulin Resistance ISO RGD:735832 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:missense mutation:CDS:p.K656N (human) PMID:18632178|REF_RGD_ID:2311138 11760596 LEPR leptin receptor gene DOID:9007692 Insulin Resistance ISO RGD:735832 D RGD:9068941 20200609 RGD associated with Obesity;DNA:missense mutation:CDS:p.K656N (human) PMID:18413223|REF_RGD_ID:2311142 11760596 LEPR leptin receptor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3001 D RGD:9068941 20200609 RGD mRNA:altered expression:heart PMID:17134725|REF_RGD_ID:1626628 11760596 LEPR leptin receptor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3001 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:15284063|REF_RGD_ID:5129123 11760596 LEPR leptin receptor gene DOID:9008163 Chronic Hepatitis B ISO RGD:735832 D RGD:9068941 20200609 RGD mRNA:altered expression:liver, peripheral blood mononuclear cell PMID:17060687|REF_RGD_ID:21079470 11760596 LEPR leptin receptor gene DOID:9008680 Respiratory Tract Infections ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17229951 11760596 LEPR leptin receptor gene DOID:9008939 Breast Neoplasms ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21353530 11760596 LEPR leptin receptor gene DOID:9351 diabetes mellitus ISO RGD:735832 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 11760596 LEPR leptin receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:10865 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 11760596 LEPR leptin receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:3001 D RGD:9068941 20200609 RGD PMID:23154293|REF_RGD_ID:13432147 11760596 LEPR leptin receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20175764|PMID:22933112|PMID:24263156|PMID:26939912 11760596 LEPR leptin receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:18439701|REF_RGD_ID:2311141 11760596 LEPR leptin receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:735832 D RGD:9068941 20200609 RGD associated with nonalcoholic fatty liver disease;DNA:intron:c.2673+1118C>T (rs6700896) (human) PMID:22215535|REF_RGD_ID:14696694 11760596 LEPR leptin receptor gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:insertion:3' utr (human) PMID:17065694|REF_RGD_ID:2311144 11760596 LEPR leptin receptor gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:10865 D RGD:9068941 20200609 RGD PMID:16284652|REF_RGD_ID:10412018 11760596 LEPR leptin receptor gene DOID:9452 fatty liver disease ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25367288|PMID:29743445 11760596 LEPR leptin receptor gene DOID:9743 diabetic neuropathy ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24263156 11760596 LEPR leptin receptor gene DOID:9970 obesity ISO RGD:735832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Obesity PMID:11354636|PMID:11380591|PMID:11443193|PMID:12006639|PMID:17785359|PMID:18490929|PMID:21393862|PMID:21744741|PMID:22331430|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8666155 11760596 LEPR leptin receptor gene DOID:9970 obesity disease_progression ISO RGD:3001 D RGD:9068941 20201211 RGD PMID:27465994|REF_RGD_ID:12911217 11760596 LEPR leptin receptor gene DOID:9970 obesity no_association ISO RGD:735832 D RGD:9068941 20200609 RGD PMID:9545018|REF_RGD_ID:10412023 11760596 LEPR leptin receptor gene DOID:9970 obesity sexual_dimorphism ISO RGD:3001 D RGD:9068941 20201211 RGD compared to BN PMID:20159938|REF_RGD_ID:7365117 11760596 LEPR leptin receptor gene DOID:9970 obesity susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.Q223R (human) PMID:18204169|REF_RGD_ID:5128855 11760596 LEPR leptin receptor gene DOID:9970 obesity treatment ISO RGD:10865 D RGD:9068941 20200609 RGD PMID:16284652|REF_RGD_ID:10412018 11760626 TMCC2 transmembrane and coiled-coil domain family 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1346306 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11760626 TMCC2 transmembrane and coiled-coil domain family 2 gene DOID:12849 autistic disorder ISO RGD:1346306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11760626 TMCC2 transmembrane and coiled-coil domain family 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1346306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11760626 TMCC2 transmembrane and coiled-coil domain family 2 gene DOID:630 genetic disease ISO RGD:1346306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760626 TMCC2 transmembrane and coiled-coil domain family 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1346306 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11760626 TMCC2 transmembrane and coiled-coil domain family 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11760644 OAZ2 ornithine decarboxylase antizyme 2 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1344023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11760644 OAZ2 ornithine decarboxylase antizyme 2 gene DOID:2717 Bloom syndrome ISO RGD:1344023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11760644 OAZ2 ornithine decarboxylase antizyme 2 gene DOID:9256 colorectal cancer ISO RGD:1344023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11760653 APOA2 apolipoprotein A2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:737360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11760653 APOA2 apolipoprotein A2 gene DOID:13809 familial combined hyperlipidemia ISO RGD:737360 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:12738753|REF_RGD_ID:1300287 11760653 APOA2 apolipoprotein A2 gene DOID:13810 familial hypercholesterolemia ISO RGD:737360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:12522687 11760653 APOA2 apolipoprotein A2 gene DOID:1540 parathyroid carcinoma ISO RGD:737360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11760653 APOA2 apolipoprotein A2 gene DOID:3393 coronary artery disease ISO RGD:737360 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17923573|REF_RGD_ID:2313956 11760653 APOA2 apolipoprotein A2 gene DOID:630 genetic disease ISO RGD:737360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760653 APOA2 apolipoprotein A2 gene DOID:684 hepatocellular carcinoma ISO RGD:737360 D RGD:9068941 20220908 RGD associated with hepatitis B; mRNA:increased expression:liver PMID:31211449|REF_RGD_ID:153350082 11760653 APOA2 apolipoprotein A2 gene DOID:7998 hyperthyroidism ISO RGD:2131 D RGD:9068941 20200609 RGD PMID:1466661|REF_RGD_ID:1599158 11760653 APOA2 apolipoprotein A2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737360 D RGD:9068941 20200609 RGD PMID:9829487|REF_RGD_ID:2313960 11760653 APOA2 apolipoprotein A2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737360 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum PMID:11126402|REF_RGD_ID:2313958 11760653 APOA2 apolipoprotein A2 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:737360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12522687 11760653 APOA2 apolipoprotein A2 gene DOID:9006599 Hypertriglyceridemia ISO RGD:737360 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:9489233|REF_RGD_ID:1601190 11760653 APOA2 apolipoprotein A2 gene DOID:9006646 Metabolic Syndrome ISO RGD:737360 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19817643|REF_RGD_ID:2313955 11760653 APOA2 apolipoprotein A2 gene DOID:9006700 APOLIPOPROTEIN A-II DEFICIENCY ISO RGD:737360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Apolipoprotein A-II deficiency 11760653 APOA2 apolipoprotein A2 gene DOID:9007692 Insulin Resistance ISO RGD:732677 D RGD:9068941 20200609 RGD PMID:11246886|REF_RGD_ID:2313957 11760653 APOA2 apolipoprotein A2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11760653 APOA2 apolipoprotein A2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737360 D RGD:9068941 20200609 RGD protein:altered localization:plasma lipoprotein particle PMID:9649952|REF_RGD_ID:2313961 11760653 APOA2 apolipoprotein A2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737360 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19817643|REF_RGD_ID:2313955 11760653 APOA2 apolipoprotein A2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737360 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:9578960|REF_RGD_ID:2313962 11760653 APOA2 apolipoprotein A2 gene DOID:9970 obesity ISO RGD:732677 D RGD:9068941 20200609 RGD PMID:9933608|REF_RGD_ID:2313959 11760653 APOA2 apolipoprotein A2 gene DOID:9970 obesity ISO RGD:737360 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9002300|REF_RGD_ID:1601191 11760661 TRIP12 thyroid hormone receptor interactor 12 gene DOID:0080234 Clark-Baraitser syndrome ISO RGD:1315318 D RGD:7240710 20190315 OMIM 11760661 TRIP12 thyroid hormone receptor interactor 12 gene DOID:0080234 Clark-Baraitser syndrome ISO RGD:1315318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Clark-Baraitser syndrome PMID:25363768|PMID:25741868|PMID:27848077|PMID:28251352|PMID:28660352|PMID:31814248|PMID:3812552 11760661 TRIP12 thyroid hormone receptor interactor 12 gene DOID:10283 prostate cancer ISO RGD:1315318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11760661 TRIP12 thyroid hormone receptor interactor 12 gene DOID:1059 intellectual disability ISO RGD:1315318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:32581362 11760661 TRIP12 thyroid hormone receptor interactor 12 gene DOID:630 genetic disease ISO RGD:1315318 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20676075|PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654 11760661 TRIP12 thyroid hormone receptor interactor 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11760661 TRIP12 thyroid hormone receptor interactor 12 gene DOID:9008582 Developmental Disease ISO RGD:1315318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11760743 MXD4 MAX dimerization protein 4 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1312919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 11760743 MXD4 MAX dimerization protein 4 gene DOID:1856 cherubism ISO RGD:1312919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11760743 MXD4 MAX dimerization protein 4 gene DOID:630 genetic disease ISO RGD:1312919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:0050827 rheumatic heart disease ISO RGD:2661 D RGD:9068941 20200609 RGD PMID:26823728|REF_RGD_ID:13792679 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:0050866 oral squamous cell carcinoma ISO RGD:2661 D RGD:9068941 20200609 RGD PMID:27375172|REF_RGD_ID:13792673 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:0060108 brain glioma ISO RGD:2661 D RGD:9068941 20200609 RGD PMID:26032618|REF_RGD_ID:13792685 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:735871 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:0080600 COVID-19 ISO RGD:735871 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:735871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:0080855 Parkinsonism ISO RGD:735871 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:29886133 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:0111621 Temtamy syndrome ISO RGD:735871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:10652 Alzheimer's disease ISO RGD:10619 D RGD:9068941 20200609 RGD protein:decreased activity:cerebral cortex, cerebellum PMID:17324518|REF_RGD_ID:13792614 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:10652 Alzheimer's disease ISO RGD:2661 D RGD:9068941 20200609 RGD protein:decreased activity:cerebral cortex, hippocampus PMID:17324518|REF_RGD_ID:13792614 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:10652 Alzheimer's disease ISO RGD:735871 D RGD:9068941 20200609 RGD PMID:28087189|REF_RGD_ID:13792604 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:10652 Alzheimer's disease ISO RGD:735871 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :rs740850, rs1060620 (human) PMID:18340469|REF_RGD_ID:13792612 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:10652 Alzheimer's disease ISO RGD:735871 D RGD:9068941 20200609 RGD protein:increased S-glutathionylation, decreased activity:inferior parietal cortex PMID:17387692|REF_RGD_ID:13792613 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:10652 Alzheimer's disease onset ISO RGD:735871 D RGD:9068941 20200609 RGD DNA:snps:5' utr, intron: (rs3741916, rs1060621) (human) PMID:15507493|REF_RGD_ID:1358618 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:735871 D RGD:9068941 20200609 RGD DNA:SNP:5' utr:rs3741916 (human) PMID:20864222|REF_RGD_ID:13792611 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:11476 osteoporosis ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:12858 Huntington's disease ISO RGD:10619 D RGD:9068941 20200609 RGD PMID:26268247|REF_RGD_ID:13792684 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:1749 squamous cell carcinoma ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:1826 epilepsy ISO RGD:2661 D RGD:9068941 20200609 RGD PMID:30143487|REF_RGD_ID:13792618 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:3319 lymphangioleiomyomatosis ISO RGD:735871 D RGD:9068941 20220630 RGD protein:increased expression:lung (human) PMID:29885404|REF_RGD_ID:152995523 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:3525 middle cerebral artery infarction ISO RGD:2661 D RGD:9068941 20200609 RGD PMID:25882840|REF_RGD_ID:13792686 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:3910 lung adenocarcinoma ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:630 genetic disease ISO RGD:735871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:684 hepatocellular carcinoma ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16767786|PMID:21472284 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:8398 osteoarthritis ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:8947 diabetic retinopathy ISO RGD:2661 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18852331|REF_RGD_ID:2315975 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2661 D RGD:9068941 20200609 RGD PMID:27256506|REF_RGD_ID:13792677 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:9000117 Esophageal Neoplasms ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:9000888 Pregnancy in Diabetics ISO RGD:2661 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:decreased expression,decreased activity:embryo PMID:12716756|REF_RGD_ID:2315979 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:9001686 Acute Coronary Syndrome ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:9002138 Spinal Cord Reperfusion Injury treatment ISO RGD:2661 D RGD:9068941 20200609 RGD PMID:30195603|REF_RGD_ID:13792615 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:9002669 Hypoxia ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2661 D RGD:9068941 20200609 RGD PMID:27655796|REF_RGD_ID:13792671 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:9005749 Necrosis ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25725130 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:9006205 Animal Disease Models ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:735871 D RGD:9068941 20201218 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:26541527|REF_RGD_ID:40902860 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:9007364 Mouth Neoplasms ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2661 D RGD:9068941 20200609 RGD PMID:27129213|REF_RGD_ID:11574725 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:735871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:9008443 Colorectal Neoplasms ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:9009171 Primary Autosomal Recessive Microcephaly 21 ISO RGD:735871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 21, primary, autosomal recessive PMID:25741868|PMID:27737959 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:9352 type 2 diabetes mellitus ISO RGD:10619 D RGD:9068941 20200609 RGD protein:decreased acetylation PMID:28258188|REF_RGD_ID:13792662 11760753 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:9970 obesity treatment ISO RGD:2661 D RGD:9068941 20200609 RGD PMID:27987997|REF_RGD_ID:13792668 11760768 CRCT1 cysteine rich C-terminal 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1353300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11760768 CRCT1 cysteine rich C-terminal 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1353300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11760768 CRCT1 cysteine rich C-terminal 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1353300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11760768 CRCT1 cysteine rich C-terminal 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1353300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11760768 CRCT1 cysteine rich C-terminal 1 gene DOID:5812 MHC class II deficiency ISO RGD:1353300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11760768 CRCT1 cysteine rich C-terminal 1 gene DOID:630 genetic disease ISO RGD:1353300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760768 CRCT1 cysteine rich C-terminal 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11760774 SELENOI selenoprotein I gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1604559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11760774 SELENOI selenoprotein I gene DOID:0112349 hereditary spastic paraplegia 81 ISO RGD:1604559 D RGD:7240710 20200226 OMIM 11760774 SELENOI selenoprotein I gene DOID:0112349 hereditary spastic paraplegia 81 ISO RGD:1604559 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 81, autosomal recessive PMID:25741868|PMID:28052917|PMID:29500230 11760774 SELENOI selenoprotein I gene DOID:630 genetic disease ISO RGD:1604559 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760812 LOC100979681 POM121-like protein 2 gene DOID:630 genetic disease ISO RGD:1343533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760816 CDKL5 cyclin dependent kinase like 5 gene DOID:0050562 West syndrome ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile spasms | ClinVar Annotator: match by term: West syndrome PMID:16813600|PMID:18414213|PMID:18790821|PMID:21775177|PMID:22867051|PMID:25741868|PMID:28492532 11760816 CDKL5 cyclin dependent kinase like 5 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1353625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11760816 CDKL5 cyclin dependent kinase like 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11760816 CDKL5 cyclin dependent kinase like 5 gene DOID:0060825 Christianson syndrome ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome-like PMID:15499549|PMID:16015284|PMID:16813600|PMID:18414213|PMID:19241098|PMID:19564592|PMID:20397747|PMID:20479760|PMID:21160487|PMID:21775177|PMID:22867051|PMID:23064044|PMID:25741868|PMID:26467025|PMID:28492532 11760816 CDKL5 cyclin dependent kinase like 5 gene DOID:0060825 Christianson syndrome ISO RGD:1353625 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Angelman syndrome-like PMID:15499549|PMID:16813600|PMID:18414213|PMID:19241098|PMID:19564592|PMID:20397747|PMID:20479760|PMID:21160487|PMID:21775177|PMID:22867051|PMID:25741868|PMID:26467025|PMID:28492532 11760816 CDKL5 cyclin dependent kinase like 5 gene DOID:0080436 developmental and epileptic encephalopathy 4 ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4 PMID:25741868 11760816 CDKL5 cyclin dependent kinase like 5 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1353625 D RGD:7240710 20180314 OMIM 11760816 CDKL5 cyclin dependent kinase like 5 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1353625 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CDKL5 disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 PMID:10533068|PMID:15492925|PMID:15499549|PMID:15689447|PMID:15917271|PMID:16015284|PMID:16199547|PMID:16326141|PMID:16330482|PMID:16611748|PMID:16813600|PMID:17256798|PMID:17304053|PMID:17546640|PMID:17576681|PMID:17993579|PMID:18063413|PMID:18076117|PMID:18266744|PMID:18414213|PMID:18564362|PMID:18790821|PMID:18809835|PMID:19161156|PMID:19241098|PMID:19253388|PMID:19362436|PMID:19396824|PMID:19428276|PMID:19471977|PMID:19564592|PMID:19740913|PMID:19763152|PMID:19780792|PMID:19793311|PMID:19807736|PMID:20307669|PMID:20397747|PMID:20479760|PMID:20493745|PMID:20602487|PMID:20848651|PMID:21160487|PMID:21293276|PMID:21309761|PMID:21318334|PMID:21765152|PMID:21770923|PMID:21775177|PMID:21802232|PMID:22264704|PMID:22406018|PMID:22430159|PMID:22670135|PMID:22678952|PMID:22779007|PMID:22812903|PMID:22832775|PMID:22867051|PMID:22872100|PMID:22922712|PMID:22982301|PMID:23064044|PMID:23151060|PMID:23184456|PMID:23236174|PMID:23238081|PMID:23242510|PMID:23262346|PMID:23583054|PMID:23647072|PMID:23708187|PMID:23756444|PMID:23828526|PMID:23934111|PMID:24564546|PMID:24715584|PMID:25266480|PMID:25315662|PMID:25326635|PMID:25640679|PMID:25657822|PMID:25741868|PMID:25819767|PMID:26112015|PMID:26271793|PMID:26467025|PMID:26482601|PMID:26544041|PMID:26993267|PMID:27081548|PMID:27187038|PMID:27265524|PMID:27334371|PMID:27391121|PMID:27599155|PMID:27770071|PMID:27779742|PMID:27823948|PMID:27824329|PMID:27848944|PMID:28074849|PMID:28386848|PMID:28492532|PMID:28837158|PMID:29095814|PMID:29100083|PMID:29186148|PMID:29190809|PMID:29264392|PMID:29390993|PMID:29420175|PMID:29444904|PMID:29655203|PMID:29852413|PMID:30182498|PMID:30266825|PMID:30460546|PMID:30624022|PMID:30776697|PMID:30898514|PMID:30945278|PMID:30945684|PMID:31031587|PMID:31313283|PMID:31492455|PMID:31690835|PMID:31780880|PMID:31791873|PMID:33436160|PMID:33538404|PMID:34229227|PMID:9536098 11760816 CDKL5 cyclin dependent kinase like 5 gene DOID:0080467 developmental and epileptic encephalopathy 2 severity ISO RGD:1353625 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:22678952|REF_RGD_ID:12791015 11760816 CDKL5 cyclin dependent kinase like 5 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1353625 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 11760816 CDKL5 cyclin dependent kinase like 5 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1353625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11760816 CDKL5 cyclin dependent kinase like 5 gene DOID:1059 intellectual disability ISO RGD:1353625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18809835|PMID:19362436|PMID:19793311|PMID:21770923|PMID:22430159|PMID:22670135|PMID:22678952|PMID:22872100|PMID:25657822|PMID:25741868|PMID:26271793|PMID:26482601|PMID:26993267|PMID:28492532|PMID:29100083|PMID:30182498|PMID:30460546 11760816 CDKL5 cyclin dependent kinase like 5 gene DOID:11832 visual epilepsy ISO RGD:1353625 D RGD:9068941 20220728 RGD DNA:deletion, missense, nonsense mutations:cds: PMID:22264704|REF_RGD_ID:12791013 11760816 CDKL5 cyclin dependent kinase like 5 gene DOID:1206 Rett syndrome ISO RGD:1353625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:16015284|PMID:18414213|PMID:19241098|PMID:19396824|PMID:25657822|PMID:27779742|PMID:28074849|PMID:28492532|PMID:30266825 11760816 CDKL5 cyclin dependent kinase like 5 gene DOID:12849 autistic disorder ISO RGD:1353625 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autism PMID:15492925|PMID:20479760|PMID:21681106|PMID:28492532|PMID:29264392|PMID:30208311 11760816 CDKL5 cyclin dependent kinase like 5 gene DOID:1826 epilepsy ISO RGD:1353625 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11760816 CDKL5 cyclin dependent kinase like 5 gene DOID:1932 Angelman syndrome ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:25741868 11760816 CDKL5 cyclin dependent kinase like 5 gene DOID:2234 focal epilepsy ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal epilepsy PMID:25741868 11760816 CDKL5 cyclin dependent kinase like 5 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1353625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11760816 CDKL5 cyclin dependent kinase like 5 gene DOID:630 genetic disease ISO RGD:1353625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10234514|PMID:10533068|PMID:10922205|PMID:12746437|PMID:16015284|PMID:18414213|PMID:18809835|PMID:19324861|PMID:19362436|PMID:19390641|PMID:19793311|PMID:20061330|PMID:20479760|PMID:20809529|PMID:21770923|PMID:21775177|PMID:22264704|PMID:22430159|PMID:22670135|PMID:22678952|PMID:22779007|PMID:22867051|PMID:22872100|PMID:23064044|PMID:23151060|PMID:23288992|PMID:23583054|PMID:23708187|PMID:23756444|PMID:25657822|PMID:25741868|PMID:26112015|PMID:26271793|PMID:26467025|PMID:26482601|PMID:26993267|PMID:27599155|PMID:27781031|PMID:27788217|PMID:27824329|PMID:28272453|PMID:28492532|PMID:29100083|PMID:29264392|PMID:29851975|PMID:30182498|PMID:30460546|PMID:30652005|PMID:31087526|PMID:33460243|PMID:33781268|PMID:34624300|PMID:35456481|PMID:618178|PMID:9618178 11760816 CDKL5 cyclin dependent kinase like 5 gene DOID:8465 retinoschisis ISO RGD:1353625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Juvenile retinoschisis | ClinVar Annotator: match by term: Retinoschisis PMID:10220153|PMID:10234514|PMID:10450864|PMID:10533068|PMID:10589241|PMID:10636421|PMID:10636429|PMID:10636740|PMID:10922205|PMID:10947001|PMID:11295123|PMID:12417531|PMID:12746437|PMID:12782284|PMID:12920343|PMID:12928282|PMID:15281981|PMID:15531314|PMID:15932525|PMID:15937075|PMID:16167295|PMID:16272055|PMID:16361673|PMID:16900931|PMID:17296904|PMID:17304551|PMID:17515881|PMID:17525175|PMID:17576681|PMID:17615541|PMID:17631851|PMID:17987333|PMID:18369700|PMID:18541843|PMID:18690710|PMID:18834580|PMID:19093009|PMID:19324861|PMID:19390641|PMID:19849666|PMID:20061330|PMID:20801516|PMID:20806044|PMID:20809529|PMID:21701876|PMID:22039241|PMID:22110067|PMID:22245991|PMID:22332228|PMID:23288992|PMID:23453514|PMID:23514609|PMID:23568735|PMID:23847049|PMID:24505212|PMID:24634885|PMID:25525159|PMID:25741868|PMID:25799783|PMID:25999676|PMID:26356828|PMID:26872967|PMID:27032803|PMID:27246168|PMID:27788217|PMID:28221463|PMID:28272453|PMID:28348004|PMID:28450823|PMID:28492532|PMID:28559085|PMID:29081674|PMID:29851975|PMID:29902095|PMID:30450322|PMID:30551202|PMID:30652005|PMID:30923717|PMID:31087526|PMID:31456290|PMID:31725702|PMID:33460243|PMID:33546218|PMID:33781268|PMID:34624300|PMID:35456481|PMID:618178|PMID:6361673|PMID:9326935|PMID:9536098|PMID:9618178|PMID:9760195 11760816 CDKL5 cyclin dependent kinase like 5 gene DOID:8501 fundus dystrophy ISO RGD:1353625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10220153|PMID:10234514|PMID:10533068|PMID:10589241|PMID:10636421|PMID:10636740|PMID:10922205|PMID:10947001|PMID:12417531|PMID:12746437|PMID:12920343|PMID:12928282|PMID:15932525|PMID:15937075|PMID:16167295|PMID:16361673|PMID:16900931|PMID:17172462|PMID:17296904|PMID:17304551|PMID:17515881|PMID:17576681|PMID:17615541|PMID:17987333|PMID:18369700|PMID:18541843|PMID:18834580|PMID:19093009|PMID:19324861|PMID:19390641|PMID:20061330|PMID:20809529|PMID:21701876|PMID:22110067|PMID:22245991|PMID:22332228|PMID:23288992|PMID:23453514|PMID:23514609|PMID:23568735|PMID:23847049|PMID:24634885|PMID:25525159|PMID:25741868|PMID:25799783|PMID:26356828|PMID:26872967|PMID:27032803|PMID:27246168|PMID:27788217|PMID:28221463|PMID:28272453|PMID:28348004|PMID:28492532|PMID:28559085|PMID:29851975|PMID:29902095|PMID:30551202|PMID:30652005|PMID:30923717|PMID:31087526|PMID:31725702|PMID:33460243|PMID:33546218|PMID:33781268|PMID:34624300|PMID:35456481|PMID:618178|PMID:9326935|PMID:9536098|PMID:9618178|PMID:9760195 11760816 CDKL5 cyclin dependent kinase like 5 gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:17172462|PMID:20591708|PMID:21914562|PMID:22473288|PMID:28492532|PMID:9618178 11760816 CDKL5 cyclin dependent kinase like 5 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1353625 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:25657822|PMID:25741868|PMID:27770071 11760816 CDKL5 cyclin dependent kinase like 5 gene DOID:9001325 Rett Syndrome, Atypical ISO RGD:1353625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:15492925|PMID:15499549|PMID:15689447|PMID:15917271|PMID:16015284|PMID:16199547|PMID:16611748|PMID:16813600|PMID:17993579|PMID:18063413|PMID:18414213|PMID:18790821|PMID:18809835|PMID:19161156|PMID:19241098|PMID:19253388|PMID:19362436|PMID:19428276|PMID:19455595|PMID:19471977|PMID:19740913|PMID:19780792|PMID:19793311|PMID:19807736|PMID:20493745|PMID:21160487|PMID:21293276|PMID:21318334|PMID:21765152|PMID:21770923|PMID:22430159|PMID:22670135|PMID:22670143|PMID:22678952|PMID:22867051|PMID:22872100|PMID:22982301|PMID:23064044|PMID:23151060|PMID:23238081|PMID:23583054|PMID:23934111|PMID:25657822|PMID:25741868|PMID:25819767|PMID:26271793|PMID:26467025|PMID:26482601|PMID:26993267|PMID:27599155|PMID:27770071|PMID:27823948|PMID:27848944|PMID:28492532|PMID:29100083|PMID:30182498|PMID:30460546|PMID:31313283|PMID:31492455|PMID:31780880|PMID:33436160 11760816 CDKL5 cyclin dependent kinase like 5 gene DOID:9001793 Generalized Epilepsy ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:18414213|PMID:20397747|PMID:25741868|PMID:28492532 11760816 CDKL5 cyclin dependent kinase like 5 gene DOID:9003531 Nicolaides Baraitser Syndrome ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome PMID:25741868 11760816 CDKL5 cyclin dependent kinase like 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11760816 CDKL5 cyclin dependent kinase like 5 gene DOID:9006534 Nervous System Malformations ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11760816 CDKL5 cyclin dependent kinase like 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1353625 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:36937954 11760851 USF3 upstream transcription factor family member 3 gene DOID:0081250 CIC-rearranged sarcoma ISO RGD:1602969 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: CIC-DUX Sarcoma 11760851 USF3 upstream transcription factor family member 3 gene DOID:630 genetic disease ISO RGD:1602969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760851 USF3 upstream transcription factor family member 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1602969 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 11760862 IGFL2 IGF like family member 2 gene DOID:630 genetic disease ISO RGD:1604232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760871 GRPEL2 GrpE like 2, mitochondrial gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1342740 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11760871 GRPEL2 GrpE like 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1342740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760871 GRPEL2 GrpE like 2, mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11760871 GRPEL2 GrpE like 2, mitochondrial gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1342740 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11760879 ARHGAP22 Rho GTPase activating protein 22 gene DOID:10316 pneumoconiosis ISO RGD:1316310 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 11760879 ARHGAP22 Rho GTPase activating protein 22 gene DOID:11372 megacolon ISO RGD:1316310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11760879 ARHGAP22 Rho GTPase activating protein 22 gene DOID:2843 long QT syndrome ISO RGD:1316310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11760879 ARHGAP22 Rho GTPase activating protein 22 gene DOID:5419 schizophrenia ISO RGD:1316310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11760879 ARHGAP22 Rho GTPase activating protein 22 gene DOID:630 genetic disease ISO RGD:1316310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760880 LARP7 La ribonucleoprotein 7, transcriptional regulator gene DOID:1059 intellectual disability ISO RGD:1604813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11760880 LARP7 La ribonucleoprotein 7, transcriptional regulator gene DOID:12271 aniridia ISO RGD:1604813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 11760880 LARP7 La ribonucleoprotein 7, transcriptional regulator gene DOID:630 genetic disease ISO RGD:1604813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11760880 LARP7 La ribonucleoprotein 7, transcriptional regulator gene DOID:9001793 Generalized Epilepsy ISO RGD:1604813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 11760880 LARP7 La ribonucleoprotein 7, transcriptional regulator gene DOID:9004307 Alazami Syndrome ISO RGD:1604813 D RGD:7240710 20180130 OMIM 11760880 LARP7 La ribonucleoprotein 7, transcriptional regulator gene DOID:9004307 Alazami Syndrome ISO RGD:1604813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alazami syndrome PMID:21937992|PMID:22865833|PMID:25741868|PMID:26374271|PMID:26607181|PMID:28492532|PMID:30006060|PMID:31074943|PMID:32860008 11760880 LARP7 La ribonucleoprotein 7, transcriptional regulator gene DOID:9004446 Alazami-Yuan Syndrome ISO RGD:1604813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Alazami-Yuan syndrome PMID:25741868|PMID:26374271|PMID:29619239|PMID:30006060|PMID:30426380|PMID:31074943 11760897 ADAT1 adenosine deaminase tRNA specific 1 gene DOID:0110989 Joubert syndrome 20 ISO RGD:1320789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 20 PMID:23012439|PMID:23349226|PMID:28492532 11760897 ADAT1 adenosine deaminase tRNA specific 1 gene DOID:10283 prostate cancer ISO RGD:1320789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11760897 ADAT1 adenosine deaminase tRNA specific 1 gene DOID:630 genetic disease ISO RGD:1320789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760929 LTBR lymphotoxin beta receptor gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1319795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11760929 LTBR lymphotoxin beta receptor gene DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 ISO RGD:1319795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 PMID:25741868 11760929 LTBR lymphotoxin beta receptor gene DOID:0080526 bronchiectasis 1 ISO RGD:1319795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 11760929 LTBR lymphotoxin beta receptor gene DOID:0080527 bronchiectasis 2 ISO RGD:1319795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2 PMID:25741868 11760929 LTBR lymphotoxin beta receptor gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1319795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11760929 LTBR lymphotoxin beta receptor gene DOID:0111621 Temtamy syndrome ISO RGD:1319795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11760929 LTBR lymphotoxin beta receptor gene DOID:12365 malaria ISO RGD:1319795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15788153 11760929 LTBR lymphotoxin beta receptor gene DOID:630 genetic disease ISO RGD:1319795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760929 LTBR lymphotoxin beta receptor gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1319795 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 11760929 LTBR lymphotoxin beta receptor gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1319795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11760953 CTTNBP2NL CTTNBP2 N-terminal like gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1607020 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 11760953 CTTNBP2NL CTTNBP2 N-terminal like gene DOID:630 genetic disease ISO RGD:1607020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760953 CTTNBP2NL CTTNBP2 N-terminal like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1607020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11760988 NME6 NME/NM23 nucleoside diphosphate kinase 6 gene DOID:630 genetic disease ISO RGD:1604057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11760988 NME6 NME/NM23 nucleoside diphosphate kinase 6 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1604057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11761018 CYP2B6 cytochrome P450 family 2 subfamily B member 6 gene DOID:0050742 nicotine dependence ISO RGD:1346751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20418888 11761018 CYP2B6 cytochrome P450 family 2 subfamily B member 6 gene DOID:0060041 autism spectrum disorder ISO RGD:1346751 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11761018 CYP2B6 cytochrome P450 family 2 subfamily B member 6 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1346751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11761018 CYP2B6 cytochrome P450 family 2 subfamily B member 6 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1346751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11761018 CYP2B6 cytochrome P450 family 2 subfamily B member 6 gene DOID:13580 cholestasis ISO RGD:1558311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22461449 11761018 CYP2B6 cytochrome P450 family 2 subfamily B member 6 gene DOID:2340 craniosynostosis ISO RGD:1346751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11761018 CYP2B6 cytochrome P450 family 2 subfamily B member 6 gene DOID:3071 gliosarcoma ISO RGD:1346751 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11389073|PMID:9766669 11761018 CYP2B6 cytochrome P450 family 2 subfamily B member 6 gene DOID:399 tuberculosis treatment ISO RGD:1346751 D RGD:9068941 20210219 RGD DNA:SNPs: :c.516G>T (rs3745274) and c.785A>G (rs2279343)(human) PMID:28389387|REF_RGD_ID:41410886 11761018 CYP2B6 cytochrome P450 family 2 subfamily B member 6 gene DOID:399 tuberculosis treatment ISO RGD:1346751 D RGD:9068941 20210219 RGD associated with human immunodeficiency virus infectious disease; ;DNA:SNP: :516G>T (rs3745274)(human) PMID:30239753|REF_RGD_ID:41412160 11761018 CYP2B6 cytochrome P450 family 2 subfamily B member 6 gene DOID:526 human immunodeficiency virus infectious disease treatment ISO RGD:1346751 D RGD:9068941 20210219 RGD DNA:SNPs: :516G>T,983T>C (human) PMID:18281305|REF_RGD_ID:11097175 11761018 CYP2B6 cytochrome P450 family 2 subfamily B member 6 gene DOID:526 human immunodeficiency virus infectious disease treatment ISO RGD:1346751 D RGD:9068941 20210219 RGD DNA:haplotype: :CYP2B6*6(human) PMID:21862974|REF_RGD_ID:11098366 11761018 CYP2B6 cytochrome P450 family 2 subfamily B member 6 gene DOID:630 genetic disease ISO RGD:1346751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761018 CYP2B6 cytochrome P450 family 2 subfamily B member 6 gene DOID:684 hepatocellular carcinoma ISO RGD:1346751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11761018 CYP2B6 cytochrome P450 family 2 subfamily B member 6 gene DOID:783 end stage renal disease ISO RGD:1346751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15248218 11761018 CYP2B6 cytochrome P450 family 2 subfamily B member 6 gene DOID:9001273 Efavirenz, Poor Metabolism of ISO RGD:1346751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Efavirenz, poor metabolism of PMID:15194512|PMID:15622315|PMID:15668854|PMID:15825040|PMID:15864119|PMID:16267764|PMID:16392089|PMID:16495778|PMID:16857630|PMID:17047492|PMID:17235330|PMID:17356468|PMID:17918089|PMID:17968817|PMID:18057928|PMID:18281305|PMID:18503405|PMID:18655316|PMID:18728241|PMID:18784455|PMID:18839779|PMID:19124658|PMID:19218571|PMID:19228205|PMID:19371316|PMID:19433561|PMID:19474465|PMID:19531981|PMID:19659438|PMID:19704172|PMID:19779319|PMID:20338069|PMID:20441246|PMID:20625352|PMID:20639527|PMID:20720517|PMID:20723261|PMID:20841522|PMID:20860463|PMID:20952418|PMID:21393201|PMID:21441248|PMID:21633320|PMID:21715435|PMID:21860339|PMID:22057858|PMID:22111602|PMID:22354160|PMID:22471906|PMID:22481606|PMID:22680342|PMID:22927450|PMID:22950382|PMID:22992668|PMID:23080225|PMID:23172109|PMID:23254426|PMID:23399569|PMID:23418033|PMID:23640958|PMID:23734829|PMID:23763943|PMID:23859571|PMID:23970651|PMID:23982262|PMID:24080498|PMID:24145522|PMID:24217698|PMID:24299220|PMID:24316028|PMID:24517233|PMID:24521642|PMID:24551111|PMID:24831655|PMID:24956253|PMID:25303294|PMID:25501988|PMID:25611810|PMID:25669165|PMID:25831219|PMID:25882300|PMID:25889207|PMID:25974723|PMID:26107645|PMID:26196596|PMID:26348712|PMID:26774523|PMID:26779253|PMID:26831894|PMID:27195527|PMID:27299708|PMID:27655857|PMID:28145050|PMID:28187506|PMID:28492729|PMID:28692529|PMID:28718515|PMID:28816644|PMID:28886044|PMID:28947469|PMID:29624706|PMID:31628422|PMID:32106141|PMID:32209837 11761018 CYP2B6 cytochrome P450 family 2 subfamily B member 6 gene DOID:9001273 Efavirenz, Poor Metabolism of susceptibility ISO RGD:1346751 D RGD:7240710 20230505 OMIM 11761018 CYP2B6 cytochrome P450 family 2 subfamily B member 6 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1346751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11761018 CYP2B6 cytochrome P450 family 2 subfamily B member 6 gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features susceptibility ISO RGD:1346751 D RGD:9068941 20200609 RGD DNA:polymorphism:G15631T PMID:19144407|REF_RGD_ID:6480472 11761018 CYP2B6 cytochrome P450 family 2 subfamily B member 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1558311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22342832 11761018 CYP2B6 cytochrome P450 family 2 subfamily B member 6 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346751 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:28762043|PMID:33814510 11761018 CYP2B6 cytochrome P450 family 2 subfamily B member 6 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1346751 D RGD:9068941 20200609 RGD DNA:polymorphism:G15631T PMID:19144407|REF_RGD_ID:6480472 11761018 CYP2B6 cytochrome P450 family 2 subfamily B member 6 gene DOID:9269 maple syrup urine disease ISO RGD:1346751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11761031 SAE1 SUMO1 activating enzyme subunit 1 gene DOID:630 genetic disease ISO RGD:1604646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761043 SUMO1 small ubiquitin like modifier 1 gene DOID:0080403 orofacial cleft 10 ISO RGD:1315807 D RGD:7240710 20180130 OMIM 11761043 SUMO1 small ubiquitin like modifier 1 gene DOID:0080403 orofacial cleft 10 ISO RGD:1315807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofacial cleft 10 PMID:16990542 11761043 SUMO1 small ubiquitin like modifier 1 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1315807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11761043 SUMO1 small ubiquitin like modifier 1 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1315807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11761043 SUMO1 small ubiquitin like modifier 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1315807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:16429395|PMID:16429403|PMID:27453251|PMID:28492532|PMID:29743074 11761043 SUMO1 small ubiquitin like modifier 1 gene DOID:630 genetic disease ISO RGD:1315807 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761043 SUMO1 small ubiquitin like modifier 1 gene DOID:674 cleft palate ISO RGD:1315807 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16990542 11761043 SUMO1 small ubiquitin like modifier 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1315807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 11761043 SUMO1 small ubiquitin like modifier 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11761043 SUMO1 small ubiquitin like modifier 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1315807 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 11761043 SUMO1 small ubiquitin like modifier 1 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1315807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11761043 SUMO1 small ubiquitin like modifier 1 gene DOID:9296 cleft lip ISO RGD:1315807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant 11761068 ZSCAN20 zinc finger and SCAN domain containing 20 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1353276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11761068 ZSCAN20 zinc finger and SCAN domain containing 20 gene DOID:630 genetic disease ISO RGD:1353276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761086 DDX24 DEAD-box helicase 24 gene DOID:0080054 achondrogenesis type IA ISO RGD:1353174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11761086 DDX24 DEAD-box helicase 24 gene DOID:0081063 DICER1 syndrome ISO RGD:1353174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 11761086 DDX24 DEAD-box helicase 24 gene DOID:630 genetic disease ISO RGD:1353174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761105 PTGIS prostaglandin I2 synthase gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:736622 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 11761105 PTGIS prostaglandin I2 synthase gene DOID:0050860 colorectal adenoma susceptibility ISO RGD:736622 D RGD:9068941 20220204 RGD DNA:repeats:promoter: PMID:16537708|REF_RGD_ID:151347835 11761105 PTGIS prostaglandin I2 synthase gene DOID:0050866 oral squamous cell carcinoma ISO RGD:736622 D RGD:9068941 20220204 RGD mRNA,protein:decreased expression:mouth mucosa (human) PMID:30532780|REF_RGD_ID:151347832 11761105 PTGIS prostaglandin I2 synthase gene DOID:0060041 autism spectrum disorder ISO RGD:736622 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11761105 PTGIS prostaglandin I2 synthase gene DOID:10763 hypertension ISO RGD:736622 D RGD:9068941 20200609 RGD PMID:12372404|REF_RGD_ID:1298040 11761105 PTGIS prostaglandin I2 synthase gene DOID:10825 essential hypertension ISO RGD:736622 D RGD:7240710 20180130 OMIM 11761105 PTGIS prostaglandin I2 synthase gene DOID:10825 essential hypertension ISO RGD:736622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential hypertension PMID:12372404|PMID:25741868 11761105 PTGIS prostaglandin I2 synthase gene DOID:13832 patent ductus arteriosus ISO RGD:736622 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19336370 11761105 PTGIS prostaglandin I2 synthase gene DOID:219 colon cancer exacerbates ISO RGD:11183 D RGD:9068941 20220204 RGD PMID:26611322|REF_RGD_ID:11536046 11761105 PTGIS prostaglandin I2 synthase gene DOID:2316 brain ischemia ISO RGD:3438 D RGD:9068941 20200609 RGD PMID:16094316|REF_RGD_ID:8693629 11761105 PTGIS prostaglandin I2 synthase gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:736622 D RGD:9068941 20220204 RGD protein:decreased expression:lung (human) PMID:16314486|REF_RGD_ID:151347842 11761105 PTGIS prostaglandin I2 synthase gene DOID:630 genetic disease ISO RGD:736622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761105 PTGIS prostaglandin I2 synthase gene DOID:6432 pulmonary hypertension ISO RGD:3438 D RGD:9068941 20200609 RGD PMID:15684702|REF_RGD_ID:1580695 11761105 PTGIS prostaglandin I2 synthase gene DOID:6432 pulmonary hypertension susceptibility ISO RGD:3438 D RGD:9068941 20200609 RGD rat gene in a mouse model PMID:10359560|REF_RGD_ID:727270 11761105 PTGIS prostaglandin I2 synthase gene DOID:8283 peritonitis ameliorates ISO RGD:11183 D RGD:9068941 20220204 RGD PMID:26611322|REF_RGD_ID:11536046 11761105 PTGIS prostaglandin I2 synthase gene DOID:9000965 Neoplasm Metastasis exacerbates ISO RGD:736622 D RGD:9068941 20220204 RGD associated with colorectal cancer; protein:increased expression:colorectum (human) PMID:22109564|REF_RGD_ID:151347833 11761105 PTGIS prostaglandin I2 synthase gene DOID:9001048 Nociceptive Pain ameliorates ISO RGD:11183 D RGD:9068941 20220204 RGD PMID:26611322|REF_RGD_ID:11536046 11761105 PTGIS prostaglandin I2 synthase gene DOID:9003281 Spontaneous Abortions ISO RGD:736622 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11761105 PTGIS prostaglandin I2 synthase gene DOID:9005172 Lung Neoplasms ISO RGD:736622 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11830527 11761105 PTGIS prostaglandin I2 synthase gene DOID:9007491 Childhood Schizophrenia ISO RGD:736622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 11761117 ARID1A AT-rich interaction domain 1A gene DOID:0050902 medulloblastoma ISO RGD:1321437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:26822237 11761117 ARID1A AT-rich interaction domain 1A gene DOID:0050934 ovarian clear cell carcinoma treatment ISO RGD:1321437 D RGD:9068941 20210409 RGD human cell in mouse model PMID:21900401|REF_RGD_ID:126725086 11761117 ARID1A AT-rich interaction domain 1A gene DOID:0060041 autism spectrum disorder ISO RGD:1321437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 11761117 ARID1A AT-rich interaction domain 1A gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1321437 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 11761117 ARID1A AT-rich interaction domain 1A gene DOID:0060857 septooptic dysplasia ISO RGD:1321437 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence PMID:25741868|PMID:35885948 11761117 ARID1A AT-rich interaction domain 1A gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1321437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 PMID:22426308|PMID:25741868 11761117 ARID1A AT-rich interaction domain 1A gene DOID:0070044 Coffin-Siris syndrome 2 ISO RGD:1321437 D RGD:7240710 20200610 OMIM 11761117 ARID1A AT-rich interaction domain 1A gene DOID:0070044 Coffin-Siris syndrome 2 ISO RGD:1321437 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 PMID:18414213|PMID:22426308|PMID:23010866|PMID:23556151|PMID:23637025|PMID:23906836|PMID:23929686|PMID:24728327|PMID:25168959|PMID:25169878|PMID:25326635|PMID:25741868|PMID:28262751|PMID:28492532|PMID:30123105|PMID:35353340 11761117 ARID1A AT-rich interaction domain 1A gene DOID:0070338 cerebellar hypoplasia ISO RGD:1321437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:28492532 11761117 ARID1A AT-rich interaction domain 1A gene DOID:0080199 colorectal carcinoma onset ISO RGD:1321437 D RGD:9068941 20210430 RGD protein:decreased expression:colorectum (human) PMID:24925223|REF_RGD_ID:126790632 11761117 ARID1A AT-rich interaction domain 1A gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1321437 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11761117 ARID1A AT-rich interaction domain 1A gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1321437 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 11761117 ARID1A AT-rich interaction domain 1A gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1321437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 11761117 ARID1A AT-rich interaction domain 1A gene DOID:10534 stomach cancer ISO RGD:1321437 D RGD:9068941 20210430 RGD mRNA:decreased expression:stomach (human) PMID:29317648|REF_RGD_ID:126781705 11761117 ARID1A AT-rich interaction domain 1A gene DOID:10534 stomach cancer ISO RGD:1321437 D RGD:9068941 20210430 RGD protein:decreased expression:stomach (human) PMID:28031120|REF_RGD_ID:125097489 11761117 ARID1A AT-rich interaction domain 1A gene DOID:10534 stomach cancer disease_progression ISO RGD:1321437 D RGD:9068941 20210423 RGD associated with Epstein-Barr Virus Infections;protein:decreased expression:stomach (human) PMID:22915242|REF_RGD_ID:126781706 11761117 ARID1A AT-rich interaction domain 1A gene DOID:10534 stomach cancer disease_progression ISO RGD:1321437 D RGD:9068941 20210430 RGD protein:decreased expression:stomach (human) PMID:26067140|PMID:26468418|PMID:30747208|PMID:32387347|REF_RGD_ID:126781704|REF_RGD_ID:126781773|REF_RGD_ID:126790633|REF_RGD_ID:126790641 11761117 ARID1A AT-rich interaction domain 1A gene DOID:10534 stomach cancer exacerbates ISO RGD:1321437 D RGD:9068941 20210430 RGD associated with Epstein-Barr Virus Infections;protein:decreased expression:stomach (human) PMID:30664822|REF_RGD_ID:126848733 11761117 ARID1A AT-rich interaction domain 1A gene DOID:10534 stomach cancer exacerbates ISO RGD:1321437 D RGD:9068941 20210430 RGD protein:decreased expression:stomach (human) PMID:26637902|PMID:29689245|REF_RGD_ID:126781725|REF_RGD_ID:126848744 11761117 ARID1A AT-rich interaction domain 1A gene DOID:10534 stomach cancer susceptibility ISO RGD:1321437 D RGD:9068941 20210430 RGD DNA:missense mutation, nonsense mutation:exon 9: Pro912Thr (C>A), Gln920Ter (C >T) (Human) PMID:32377988|REF_RGD_ID:126848772 11761117 ARID1A AT-rich interaction domain 1A gene DOID:10534 stomach cancer treatment ISO RGD:1321437 D RGD:9068941 20210402 RGD human gene in mouse model PMID:27323812|REF_RGD_ID:125097523 11761117 ARID1A AT-rich interaction domain 1A gene DOID:1059 intellectual disability ISO RGD:1321437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 11761117 ARID1A AT-rich interaction domain 1A gene DOID:1059 intellectual disability ISO RGD:1321437 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 11761117 ARID1A AT-rich interaction domain 1A gene DOID:10591 pre-eclampsia disease_progression ISO RGD:1321437 D RGD:9068941 20230413 RGD associated with Fetal Growth Retardation; protein:increased expression:placenta, nucleus (human) PMID:32529396|REF_RGD_ID:243065143 11761117 ARID1A AT-rich interaction domain 1A gene DOID:10907 microcephaly ISO RGD:1321437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11761117 ARID1A AT-rich interaction domain 1A gene DOID:11054 urinary bladder cancer ISO RGD:1321437 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 11761117 ARID1A AT-rich interaction domain 1A gene DOID:13088 periventricular leukomalacia ISO RGD:1321437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Periventricular leukomalacia PMID:25741868|PMID:28492532 11761117 ARID1A AT-rich interaction domain 1A gene DOID:1324 lung cancer ISO RGD:1321437 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 11761117 ARID1A AT-rich interaction domain 1A gene DOID:1380 endometrial cancer onset ISO RGD:1321437 D RGD:9068941 20210409 RGD protein:decreased expression:endometrium (human) PMID:23887303|REF_RGD_ID:126779522 11761117 ARID1A AT-rich interaction domain 1A gene DOID:1612 breast cancer treatment ISO RGD:1321437 D RGD:9068941 20210507 RGD human cells in mouse model PMID:26069190|REF_RGD_ID:11072938 11761117 ARID1A AT-rich interaction domain 1A gene DOID:1826 epilepsy ISO RGD:1321437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 11761117 ARID1A AT-rich interaction domain 1A gene DOID:1925 Coffin-Siris syndrome ISO RGD:1321437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome PMID:25741868 11761117 ARID1A AT-rich interaction domain 1A gene DOID:2154 nephroblastoma ISO RGD:1321437 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 11761117 ARID1A AT-rich interaction domain 1A gene DOID:219 colon cancer treatment ISO RGD:1321437 D RGD:9068941 20210507 RGD human cells in mouse model PMID:26069190|REF_RGD_ID:11072938 11761117 ARID1A AT-rich interaction domain 1A gene DOID:234 colon adenocarcinoma disease_progression ISO RGD:1321437 D RGD:9068941 20210430 RGD protein:decreased expression:colorectum (human) PMID:26980037|REF_RGD_ID:126790569 11761117 ARID1A AT-rich interaction domain 1A gene DOID:2671 transitional cell carcinoma ISO RGD:1321437 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 11761117 ARID1A AT-rich interaction domain 1A gene DOID:2870 endometrial adenocarcinoma treatment ISO RGD:1321437 D RGD:9068941 20210409 RGD human cell in mouse model PMID:21900401|REF_RGD_ID:126725086 11761117 ARID1A AT-rich interaction domain 1A gene DOID:299 adenocarcinoma ISO RGD:1321437 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:22484628 11761117 ARID1A AT-rich interaction domain 1A gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:1321437 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:29376028 11761117 ARID1A AT-rich interaction domain 1A gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:1321437 D RGD:9068941 20210430 RGD protein:decreased expression:stomach (human) PMID:25717252|REF_RGD_ID:126848753 11761117 ARID1A AT-rich interaction domain 1A gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:1321437 D RGD:9068941 20210409 RGD mRNA, protein:decreased expression:mucosa of stomach (human) PMID:22808142|REF_RGD_ID:125097488 11761117 ARID1A AT-rich interaction domain 1A gene DOID:3717 gastric adenocarcinoma severity ISO RGD:1321437 D RGD:9068941 20210402 RGD mRNA:decreased expression:mucosa of stomach (human) PMID:24293408|REF_RGD_ID:125097521 11761117 ARID1A AT-rich interaction domain 1A gene DOID:3907 lung squamous cell carcinoma exacerbates ISO RGD:1321437 D RGD:9068941 20210430 RGD protein:decreased expression:lung (human) PMID:32823232|REF_RGD_ID:126848760 11761117 ARID1A AT-rich interaction domain 1A gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1321437 D RGD:9068941 20210507 RGD protein:decreased expression:lung (human) PMID:24566899|REF_RGD_ID:126848781 11761117 ARID1A AT-rich interaction domain 1A gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1321437 D RGD:9068941 20210507 RGD DNA:mutations PMID:32791957|REF_RGD_ID:126848874 11761117 ARID1A AT-rich interaction domain 1A gene DOID:4907 small intestine carcinoma exacerbates ISO RGD:1321437 D RGD:9068941 20210416 RGD protein:decreased expression:small intestine (human) PMID:25400081|REF_RGD_ID:126781719 11761117 ARID1A AT-rich interaction domain 1A gene DOID:4914 esophagus adenocarcinoma ISO RGD:1321437 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:23525077 11761117 ARID1A AT-rich interaction domain 1A gene DOID:4914 esophagus adenocarcinoma disease_progression ISO RGD:1321437 D RGD:9068941 20210625 RGD PMID:31906887|REF_RGD_ID:127285649 11761117 ARID1A AT-rich interaction domain 1A gene DOID:4927 Klatskin's tumor disease_progression ISO RGD:1321437 D RGD:9068941 20210430 RGD DNA:deletions PMID:33387086|REF_RGD_ID:126848756 11761117 ARID1A AT-rich interaction domain 1A gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1321437 D RGD:9068941 20200611 RGD PMID:30849962|REF_RGD_ID:14974231 11761117 ARID1A AT-rich interaction domain 1A gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1321437 D RGD:9068941 20210423 RGD mRNA,protein:decreased expression:intrahepatic bile duct (human) PMID:27433094|REF_RGD_ID:126775257 11761117 ARID1A AT-rich interaction domain 1A gene DOID:4928 intrahepatic cholangiocarcinoma exacerbates ISO RGD:1321437 D RGD:9068941 20210423 RGD protein:decreased expression:intrahepatic bile duct (human) PMID:31665232|REF_RGD_ID:126781775 11761117 ARID1A AT-rich interaction domain 1A gene DOID:4947 cholangiocarcinoma ISO RGD:1321437 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:24185509 11761117 ARID1A AT-rich interaction domain 1A gene DOID:5517 stomach carcinoma disease_progression ISO RGD:1321437 D RGD:9068941 20210423 RGD protein:decreased expression:stomach (human) PMID:24767857|REF_RGD_ID:125097484 11761117 ARID1A AT-rich interaction domain 1A gene DOID:5744 ovary serous adenocarcinoma ISO RGD:1321437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary low grade serous adenocarcinoma of ovary 11761117 ARID1A AT-rich interaction domain 1A gene DOID:630 genetic disease ISO RGD:1321437 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22009941|PMID:22037554|PMID:25741868|PMID:28401006|PMID:28492532 11761117 ARID1A AT-rich interaction domain 1A gene DOID:684 hepatocellular carcinoma ISO RGD:1321437 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 11761117 ARID1A AT-rich interaction domain 1A gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1321437 D RGD:9068941 20210430 RGD human gene in mouse model PMID:29136504|REF_RGD_ID:126790634 11761117 ARID1A AT-rich interaction domain 1A gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1321438 D RGD:9068941 20210423 RGD associated with non-alcoholic steatohepatitis PMID:26569409|REF_RGD_ID:11344640 11761117 ARID1A AT-rich interaction domain 1A gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1321438 D RGD:9068941 20210430 RGD PMID:29136504|REF_RGD_ID:126790634 11761117 ARID1A AT-rich interaction domain 1A gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1321438 D RGD:9068941 20210402 RGD PMID:29113912|REF_RGD_ID:125097519 11761117 ARID1A AT-rich interaction domain 1A gene DOID:687 hepatoblastoma ISO RGD:1321437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:26822237 11761117 ARID1A AT-rich interaction domain 1A gene DOID:769 neuroblastoma ISO RGD:1321437 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:23202128 11761117 ARID1A AT-rich interaction domain 1A gene DOID:769 neuroblastoma ISO RGD:1321437 D RGD:9068941 20200611 RGD DNA:mutations,loss of heterozygosity: : PMID:23202128|REF_RGD_ID:13439724 11761117 ARID1A AT-rich interaction domain 1A gene DOID:7698 non-functioning pancreatic endocrine tumor exacerbates ISO RGD:1321437 D RGD:9068941 20210430 RGD protein:decreased expression:endocrine pancreas (human) PMID:32282764|REF_RGD_ID:126790640 11761117 ARID1A AT-rich interaction domain 1A gene DOID:8541 Sezary's disease ISO RGD:1321437 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:26551670 11761117 ARID1A AT-rich interaction domain 1A gene DOID:8584 Burkitt lymphoma ISO RGD:1321437 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 11761117 ARID1A AT-rich interaction domain 1A gene DOID:9000027 Microsatellite Instability ISO RGD:1321437 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 11761117 ARID1A AT-rich interaction domain 1A gene DOID:9000217 Stomach Neoplasms ISO RGD:1321437 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:22037554|PMID:22484628|PMID:24816253 11761117 ARID1A AT-rich interaction domain 1A gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1321438 D RGD:9068941 20210402 RGD in lung; associated with hepatocellular carcinoma PMID:25975202|REF_RGD_ID:125097495 11761117 ARID1A AT-rich interaction domain 1A gene DOID:9001586 Experimental Liver Neoplasms disease_progression ISO RGD:1321438 D RGD:9068941 20210423 RGD PMID:26569409|REF_RGD_ID:11344640 11761117 ARID1A AT-rich interaction domain 1A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321437 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:29610475|PMID:29662167 11761117 ARID1A AT-rich interaction domain 1A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11761117 ARID1A AT-rich interaction domain 1A gene DOID:9006741 Acute Hepatitis exacerbates ISO RGD:1321438 D RGD:9068941 20210423 RGD PMID:26569409|REF_RGD_ID:11344640 11761117 ARID1A AT-rich interaction domain 1A gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1321437 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:28492532 11761117 ARID1A AT-rich interaction domain 1A gene DOID:9007715 Endometrial Neoplasms ISO RGD:1321437 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 11761117 ARID1A AT-rich interaction domain 1A gene DOID:9008386 Hydrops Fetalis ISO RGD:1321437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868 11761117 ARID1A AT-rich interaction domain 1A gene DOID:9008443 Colorectal Neoplasms ISO RGD:1321437 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:27941798 11761117 ARID1A AT-rich interaction domain 1A gene DOID:9008939 Breast Neoplasms ISO RGD:1321437 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:31932695 11761117 ARID1A AT-rich interaction domain 1A gene DOID:9256 colorectal cancer ISO RGD:1321437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 11761117 ARID1A AT-rich interaction domain 1A gene DOID:9256 colorectal cancer disease_progression ISO RGD:1321437 D RGD:9068941 20210409 RGD protein:decreased expression:colorectum (human) PMID:25561809|REF_RGD_ID:126779574 11761117 ARID1A AT-rich interaction domain 1A gene DOID:9256 colorectal cancer exacerbates ISO RGD:1321437 D RGD:9068941 20210409 RGD protein:decreased expression:colorectum (human) PMID:31263894|REF_RGD_ID:126777686 11761117 ARID1A AT-rich interaction domain 1A gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:1321437 D RGD:9068941 20210416 RGD protein:decreased expression:nasopharynx(human) PMID:31213911|REF_RGD_ID:126781707 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17261581 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:0050848 obstructive sleep apnea ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:17013605|REF_RGD_ID:2298862 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1352761 D RGD:9068941 20220826 RGD protein:increased expression:mouth (human) PMID:34111459|REF_RGD_ID:153344573 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:0060058 lymphoma ISO RGD:1352761 D RGD:9068941 20200609 RGD DNA:point mutation:codon 494:Glu-Asp PMID:9047386|REF_RGD_ID:2298891 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:0060074 ductal carcinoma in situ ISO RGD:1352761 D RGD:9068941 20200609 RGD DNA:amplification PMID:17375183|REF_RGD_ID:2298754 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:0060180 colitis ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23810507 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:0060180 colitis ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:nucleus PMID:18623154|REF_RGD_ID:2298776 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:0060322 mastoiditis ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: PMID:24690988|REF_RGD_ID:8552995 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:0080855 Parkinsonism ISO RGD:727889 D RGD:9068941 20200609 RGD PMID:18534259|REF_RGD_ID:2302392 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:18241655|REF_RGD_ID:2298789 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:0081292 traumatic brain injury ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25668593|PMID:28642177 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:1059 intellectual disability ISO RGD:1352761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:10754 otitis media ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: PMID:24690988|REF_RGD_ID:8552995 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:10763 hypertension ISO RGD:1352761 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:19018797|PMID:27659729|PMID:32147540 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:10763 hypertension ISO RGD:727889 D RGD:9068941 20200609 RGD PMID:16840655|REF_RGD_ID:2298761 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:10964 cholesteatoma of middle ear ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: PMID:24690988|REF_RGD_ID:8552995 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:11054 urinary bladder cancer ISO RGD:1551095 D RGD:9068941 20200609 RGD PMID:18089718|REF_RGD_ID:2293094 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1352761 D RGD:9068941 20200609 RGD PMID:18188593|REF_RGD_ID:2298753 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:11132 prostatic hypertrophy ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:25546515|REF_RGD_ID:11566048 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:11383 cryptorchidism ISO RGD:1551095 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:22777528|REF_RGD_ID:11567213 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:11713 diabetic angiopathy ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:12236 primary biliary cholangitis ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:13141 uveitis ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:uvea PMID:18087711|REF_RGD_ID:2298858 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:13580 cholestasis ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20626112 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:13619 extrahepatic cholestasis ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951|PMID:30026087 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:1591 renovascular hypertension ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:nucleus, kidney PMID:18032469|REF_RGD_ID:2298840 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:1679 cystitis ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22099998 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:1793 pancreatic cancer ISO RGD:1352761 D RGD:9068941 20200609 RGD PMID:9918209|REF_RGD_ID:2298892 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:1824 status epilepticus ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:nucleus, hippocampus PMID:17727632|REF_RGD_ID:2298852 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:1826 epilepsy treatment ISO RGD:727889 D RGD:9068941 20200609 RGD PMID:28303499|REF_RGD_ID:13524859 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1352761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:2316 brain ischemia ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18628779 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:2349 arteriosclerosis ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:18637019|REF_RGD_ID:2298774 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:1352761 D RGD:9068941 20200609 RGD PMID:15073126|REF_RGD_ID:13506768 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:1551095 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:15712212|REF_RGD_ID:2298768 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:2746 glycogen storage disease V ISO RGD:1352761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:2876 laryngeal squamous cell carcinoma severity ISO RGD:1352761 D RGD:9068941 20211001 RGD associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human) PMID:19513509|REF_RGD_ID:150429781 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:2945 severe acute respiratory syndrome ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26861016 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:299 adenocarcinoma ISO RGD:1352761 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:3070 high grade glioma ISO RGD:1352761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1551095 D RGD:9068941 20221117 RGD mRNA, protein:increased expression:lung (mouse) PMID:34331613|REF_RGD_ID:155663371 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352761 D RGD:9068941 20200609 RGD PMID:16287968|REF_RGD_ID:2298765 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:4450 renal cell carcinoma ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18089796 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:4450 renal cell carcinoma ISO RGD:1352761 D RGD:9068941 20200609 RGD PMID:17290398|REF_RGD_ID:2298755 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:4450 renal cell carcinoma ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:12663495|REF_RGD_ID:2298771 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:4905 pancreatic carcinoma ISO RGD:1352761 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34686948 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:5199 ureteral obstruction ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:630 genetic disease ISO RGD:1352761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:6432 pulmonary hypertension ISO RGD:727889 D RGD:9068941 20200609 RGD protein:altered localization:nucleus, blood vessel endothelial cell, lung PMID:17934115|REF_RGD_ID:2298843 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:670 amphetamine abuse ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19689456 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:769 neuroblastoma ISO RGD:1352761 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:783 end stage renal disease ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:783 end stage renal disease ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:18077597|REF_RGD_ID:2298859 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:8577 ulcerative colitis ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15955209 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:8634 prostate carcinoma in situ ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:16278667|REF_RGD_ID:2298767 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:8634 prostate carcinoma in situ ISO RGD:1551095 D RGD:9068941 20200609 RGD PMID:15570007|REF_RGD_ID:2298769 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:8778 Crohn's disease ISO RGD:1352761 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:altered localization, increased expression:nucleus, uterine cervix PMID:16850495|REF_RGD_ID:2298759 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9000039 Spinal Cord Injuries ISO RGD:727889 D RGD:9068941 20200609 RGD PMID:17918744|REF_RGD_ID:2298849 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9000081 Lymphatic Metastasis ISO RGD:1352761 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;protein:altered localization:nucleus, prostate gland PMID:17020979|REF_RGD_ID:2298757 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9000099 Experimental Colitis treatment ISO RGD:727889 D RGD:9068941 20220623 RGD PMID:29572553|REF_RGD_ID:152995414 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9000113 Pneumococcal Meningitis ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:brain, nucleus PMID:25443778|REF_RGD_ID:9831197 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9000217 Stomach Neoplasms ISO RGD:1352761 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27157545 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9000918 Disease Progression ISO RGD:1352761 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34626302|PMID:34973135 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9000998 Brain Injuries ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:ileum PMID:18288455|REF_RGD_ID:2298787 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9001161 Chronic Mucocutaneous Ulceration ISO RGD:1352761 D RGD:7240710 20190717 OMIM 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9001161 Chronic Mucocutaneous Ulceration ISO RGD:1352761 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic PMID:25741868|PMID:28492532|PMID:28600438|PMID:29758562|PMID:32969189|PMID:35412596 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26806094 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9001708 Hemorrhagic Shock ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:increased phosphorylation, altered location:nucleus, endothelial cell, lung PMID:17950083|REF_RGD_ID:2298841 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9001708 Hemorrhagic Shock ISO RGD:727889 D RGD:9068941 20200609 RGD PMID:17950078|REF_RGD_ID:2298842 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9001708 Hemorrhagic Shock ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased phosphorylation:nucleus, liver PMID:18469645|REF_RGD_ID:2298781 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9002165 Diabetic Nephropathies ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17900838 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9002170 Experimental Neoplasms ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20932960 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:altered localization, increased expression:nucleus, prostate gland PMID:16278667|REF_RGD_ID:2298767 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9002676 Cerebral Hemorrhage ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased activity:striatum PMID:17250675|REF_RGD_ID:2302394 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1352761 D RGD:9068941 20200609 RGD PMID:18314621|REF_RGD_ID:2298752 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9002928 Colonic Neoplasms ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20715105 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:altered localization, increased expression:nucleus, uterine cervix PMID:16850495|REF_RGD_ID:2298759 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17098279|REF_RGD_ID:2298756 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1352761 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9003936 Cardiomegaly ISO RGD:727889 D RGD:9068941 20200609 RGD PMID:15728586|REF_RGD_ID:1580656 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9003936 Cardiomegaly treatment ISO RGD:727889 D RGD:9068941 20200609 RGD PMID:15749748|REF_RGD_ID:1581122 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9004009 Reperfusion Injury ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20302854|PMID:23743330 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9004009 Reperfusion Injury ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:nucleus, liver PMID:18621400|REF_RGD_ID:2298777 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9004250 Hepatic Insufficiency ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9004283 Transplant Rejection treatment ISO RGD:727889 D RGD:9068941 20200709 RGD PMID:31828147|REF_RGD_ID:35316072 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9004464 Skin Neoplasms ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23069812 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9004484 Sepsis ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:nucleus, lung PMID:17626913|REF_RGD_ID:2298853 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19896475|PMID:29501572 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:727889 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:ventricle myocardium, heart left ventricle PMID:18543397|REF_RGD_ID:2298779 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9004649 Heat Stroke ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1551095 D RGD:9068941 20200609 RGD protein:decreased expression:peritoneal macrophage PMID:16288051|REF_RGD_ID:2298764 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9005236 Drug Eruptions ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31150805 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9005369 Hepatomegaly ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138235 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:727889 D RGD:9068941 20200609 RGD PMID:18633731|REF_RGD_ID:2298775 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:nucleus, skeletal muscle, liver PMID:18500427|REF_RGD_ID:2298780 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9007491 Childhood Schizophrenia ISO RGD:1352761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9007502 Brain Neoplasms ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20932960 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23069812|PMID:29501572 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9007692 Insulin Resistance ISO RGD:1551095 D RGD:9068941 20200609 RGD PMID:18198644|REF_RGD_ID:2298857 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9007692 Insulin Resistance ISO RGD:727889 D RGD:9068941 20200609 RGD protein:altered localization:soleus PMID:18073321|REF_RGD_ID:2298860 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:727889 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:18636044|REF_RGD_ID:2298773 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:727889 D RGD:9068941 20220923 RGD PMID:31583047|REF_RGD_ID:155230831 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1352761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:nucleus, brain PMID:18590723|REF_RGD_ID:2298778 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9008939 Breast Neoplasms ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20154269 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9008939 Breast Neoplasms ISO RGD:1352761 D RGD:9068941 20200609 RGD PMID:16322341|PMID:16728586|REF_RGD_ID:2298762|REF_RGD_ID:2298763 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9206 Barrett's esophagus ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15387324 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23500658 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9452 fatty liver disease ISO RGD:727889 D RGD:9068941 20200609 RGD PMID:21643627|REF_RGD_ID:5135028 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9588 encephalitis ISO RGD:727889 D RGD:9068941 20200609 RGD PMID:16006567|REF_RGD_ID:5147676 11761149 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9970 obesity ISO RGD:1352761 D RGD:9068941 20200609 RGD PMID:18356846|REF_RGD_ID:2298856 11761167 C1H1orf159 chromosome 1 C1orf159 homolog gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1606269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11761167 C1H1orf159 chromosome 1 C1orf159 homolog gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11761167 C1H1orf159 chromosome 1 C1orf159 homolog gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1606269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11761167 C1H1orf159 chromosome 1 C1orf159 homolog gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1606269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11761167 C1H1orf159 chromosome 1 C1orf159 homolog gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1606269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11761167 C1H1orf159 chromosome 1 C1orf159 homolog gene DOID:0110994 Joubert syndrome 25 ISO RGD:1606269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11761167 C1H1orf159 chromosome 1 C1orf159 homolog gene DOID:0111934 immunodeficiency 38 ISO RGD:1606269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11761167 C1H1orf159 chromosome 1 C1orf159 homolog gene DOID:0111935 immunodeficiency 16 ISO RGD:1606269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11761167 C1H1orf159 chromosome 1 C1orf159 homolog gene DOID:630 genetic disease ISO RGD:1606269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761167 C1H1orf159 chromosome 1 C1orf159 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11761167 C1H1orf159 chromosome 1 C1orf159 homolog gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1606269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11761167 C1H1orf159 chromosome 1 C1orf159 homolog gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1606269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11761213 ADCY5 adenylate cyclase 5 gene DOID:0050700 cardiomyopathy ISO RGD:736882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18029912|PMID:23536361 11761213 ADCY5 adenylate cyclase 5 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:736882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 11761213 ADCY5 adenylate cyclase 5 gene DOID:0111190 distal muscular dystrophy 4 ISO RGD:736882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement PMID:25741868 11761213 ADCY5 adenylate cyclase 5 gene DOID:10763 hypertension ISO RGD:71014 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle PMID:12717102|REF_RGD_ID:13464134 11761213 ADCY5 adenylate cyclase 5 gene DOID:10763 hypertension ISO RGD:736882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12717102 11761213 ADCY5 adenylate cyclase 5 gene DOID:11476 osteoporosis ISO RGD:736882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18029912 11761213 ADCY5 adenylate cyclase 5 gene DOID:14330 Parkinson's disease ISO RGD:736883 D RGD:9068941 20220825 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 11761213 ADCY5 adenylate cyclase 5 gene DOID:305 carcinoma ISO RGD:736882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11761213 ADCY5 adenylate cyclase 5 gene DOID:630 genetic disease ISO RGD:736882 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11310626|PMID:24700542|PMID:25326635|PMID:25741868|PMID:25790160|PMID:26085604|PMID:26537056|PMID:26686870|PMID:27061943|PMID:28492532|PMID:28511835|PMID:28971144|PMID:32713175 11761213 ADCY5 adenylate cyclase 5 gene DOID:9000100 NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA ISO RGD:736882 D RGD:7240710 20220216 OMIM 11761213 ADCY5 adenylate cyclase 5 gene DOID:9000100 NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA ISO RGD:736882 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hyperkinetic movements and dyskinesia PMID:25741868|PMID:28492532|PMID:33704598|PMID:34631954 11761213 ADCY5 adenylate cyclase 5 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11761213 ADCY5 adenylate cyclase 5 gene DOID:9000784 Fibrosis ISO RGD:736882 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25193472 11761213 ADCY5 adenylate cyclase 5 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:736882 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25193472 11761213 ADCY5 adenylate cyclase 5 gene DOID:9002949 Dyskinesia with Orofacial Involvement, Autosomal Recessive ISO RGD:736882 D RGD:7240710 20220209 OMIM 11761213 ADCY5 adenylate cyclase 5 gene DOID:9002949 Dyskinesia with Orofacial Involvement, Autosomal Recessive ISO RGD:736882 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Dyskinesia with orofacial involvement, autosomal recessive PMID:25741868|PMID:28492532|PMID:28971144|PMID:30975617 11761213 ADCY5 adenylate cyclase 5 gene DOID:9003996 Birth Weight ISO RGD:736882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23202124 11761213 ADCY5 adenylate cyclase 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 11761213 ADCY5 adenylate cyclase 5 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11761213 ADCY5 adenylate cyclase 5 gene DOID:9006115 Dyskinesia with Orofacial Involvement, Autosomal Dominant ISO RGD:736882 D RGD:7240710 20230308 OMIM 11761213 ADCY5 adenylate cyclase 5 gene DOID:9006115 Dyskinesia with Orofacial Involvement, Autosomal Dominant ISO RGD:736882 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskinesia with orofacial involvement, autosomal dominant PMID:1003446|PMID:11310626|PMID:11445636|PMID:152174|PMID:16199547|PMID:16537460|PMID:22782511|PMID:24700542|PMID:25326635|PMID:25545163|PMID:25741868|PMID:25790160|PMID:26085604|PMID:26537056|PMID:26686870|PMID:27061943|PMID:27931826|PMID:28492532|PMID:28511835|PMID:28971144|PMID:30772269|PMID:31181574|PMID:31501304|PMID:31731261|PMID:32627162|PMID:32713175|PMID:34631954 11761213 ADCY5 adenylate cyclase 5 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:736882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:21055718|PMID:28492532|PMID:28602422 11761213 ADCY5 adenylate cyclase 5 gene DOID:9007924 Dyskinesia with Orofacial Involvement ISO RGD:736882 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskinesia, familial, with facial myokymia PMID:24700542|PMID:25741868|PMID:26085604|PMID:26537056|PMID:28492532|PMID:28511835|PMID:30772269 11761213 ADCY5 adenylate cyclase 5 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:736882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 11761213 ADCY5 adenylate cyclase 5 gene DOID:9270 alkaptonuria ISO RGD:736882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11761213 ADCY5 adenylate cyclase 5 gene DOID:93 language disorder ISO RGD:736882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Language disorder 11761213 ADCY5 adenylate cyclase 5 gene DOID:9352 type 2 diabetes mellitus ISO RGD:71014 D RGD:9068941 20200609 RGD PMID:12607610|REF_RGD_ID:13464136 11761213 ADCY5 adenylate cyclase 5 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20081858|PMID:23202124 11761240 CDC42 cell division cycle 42 gene DOID:0060369 Parkinson's disease 6 ISO RGD:730976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11761240 CDC42 cell division cycle 42 gene DOID:0060775 microvillus inclusion disease ISO RGD:730977 D RGD:9068941 20220825 MouseDO OMIM:251850 11761240 CDC42 cell division cycle 42 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:730976 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11761240 CDC42 cell division cycle 42 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:730976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11761240 CDC42 cell division cycle 42 gene DOID:10652 Alzheimer's disease ISO RGD:730976 D RGD:9068941 20200609 RGD PMID:10817927|REF_RGD_ID:5688277 11761240 CDC42 cell division cycle 42 gene DOID:1793 pancreatic cancer severity ISO RGD:730976 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas (human) PMID:28181096|REF_RGD_ID:13452244 11761240 CDC42 cell division cycle 42 gene DOID:305 carcinoma ISO RGD:730976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11761240 CDC42 cell division cycle 42 gene DOID:3312 bipolar disorder ISO RGD:730976 D RGD:9068941 20200609 RGD PMID:18391128|REF_RGD_ID:5688274 11761240 CDC42 cell division cycle 42 gene DOID:3328 temporal lobe epilepsy ISO RGD:71043 D RGD:9068941 20200609 RGD PMID:19700661|REF_RGD_ID:5688272 11761240 CDC42 cell division cycle 42 gene DOID:3355 fibrosarcoma ISO RGD:730976 D RGD:9068941 20200609 RGD PMID:17971488|REF_RGD_ID:5688275 11761240 CDC42 cell division cycle 42 gene DOID:4483 rhinitis ISO RGD:730976 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal turbinate PMID:19432938|REF_RGD_ID:5688273 11761240 CDC42 cell division cycle 42 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:730976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11761240 CDC42 cell division cycle 42 gene DOID:630 genetic disease ISO RGD:730976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26386261|PMID:26708094|PMID:26795593|PMID:27513193|PMID:28991257|PMID:29335451|PMID:29394990|PMID:33936654 11761240 CDC42 cell division cycle 42 gene DOID:674 cleft palate ISO RGD:730977 D RGD:9068941 20220922 MouseDO 11761240 CDC42 cell division cycle 42 gene DOID:9000039 Spinal Cord Injuries ISO RGD:71043 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:15736231|REF_RGD_ID:5688276 11761240 CDC42 cell division cycle 42 gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:730976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747643 11761240 CDC42 cell division cycle 42 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:730976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11761240 CDC42 cell division cycle 42 gene DOID:9002457 Experimental Arthritis ISO RGD:730977 D RGD:9068941 20200609 RGD protein:increased activation:bone marrow, macrophage PMID:21266780|REF_RGD_ID:5688271 11761240 CDC42 cell division cycle 42 gene DOID:9003091 Noonan Like Syndrome ISO RGD:730976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan-like syndrome PMID:25741868|PMID:29394990 11761240 CDC42 cell division cycle 42 gene DOID:9004009 Reperfusion Injury ISO RGD:71043 D RGD:9068941 20200609 RGD protein:increased activation:hippocampus CA1 PMID:17161586|REF_RGD_ID:2298583 11761240 CDC42 cell division cycle 42 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26386261|PMID:26708094|PMID:26795593|PMID:27513193|PMID:28492532|PMID:28991257|PMID:29335451|PMID:29394990|PMID:33936654 11761240 CDC42 cell division cycle 42 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11761240 CDC42 cell division cycle 42 gene DOID:9005749 Necrosis ISO RGD:730976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19430526 11761240 CDC42 cell division cycle 42 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:730976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11761240 CDC42 cell division cycle 42 gene DOID:9006962 Takenouchi-Kosaki Syndrome ISO RGD:730976 D RGD:7240710 20180130 OMIM 11761240 CDC42 cell division cycle 42 gene DOID:9006962 Takenouchi-Kosaki Syndrome ISO RGD:730976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Takenouchi-Kosaki syndrome PMID:25741868|PMID:26386261|PMID:26708094|PMID:26795593|PMID:27513193|PMID:28492532|PMID:28991257|PMID:29335451|PMID:29394990|PMID:33936654 11761253 TBRG1 transforming growth factor beta regulator 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1312969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11761253 TBRG1 transforming growth factor beta regulator 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1312969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11761253 TBRG1 transforming growth factor beta regulator 1 gene DOID:1059 intellectual disability ISO RGD:1312969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 11761253 TBRG1 transforming growth factor beta regulator 1 gene DOID:5419 schizophrenia ISO RGD:1312969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11761253 TBRG1 transforming growth factor beta regulator 1 gene DOID:630 genetic disease ISO RGD:1312969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761253 TBRG1 transforming growth factor beta regulator 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1312969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11761253 TBRG1 transforming growth factor beta regulator 1 gene DOID:9007661 Dwarfism ISO RGD:1312969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11761274 H1-2 H1.2 linker histone, cluster member gene DOID:630 genetic disease ISO RGD:1343160 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761274 H1-2 H1.2 linker histone, cluster member gene DOID:9008939 Breast Neoplasms ISO RGD:1343160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 11761274 H1-2 H1.2 linker histone, cluster member gene DOID:9119 acute myeloid leukemia ISO RGD:1343160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11761274 H1-2 H1.2 linker histone, cluster member gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:1343160 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:enhancer: (rs807212) (human) PMID:19806355|REF_RGD_ID:10755490 11761279 CMKLR1 chemerin chemokine-like receptor 1 gene DOID:10591 pre-eclampsia ISO RGD:1348723 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34398343 11761279 CMKLR1 chemerin chemokine-like receptor 1 gene DOID:2999 granulosa cell tumor ISO RGD:1348723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29653259 11761279 CMKLR1 chemerin chemokine-like receptor 1 gene DOID:630 genetic disease ISO RGD:1348723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761294 LOC100994150 olfactory receptor 4D1 gene DOID:0050777 Joubert syndrome ISO RGD:1346867 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11761294 LOC100994150 olfactory receptor 4D1 gene DOID:1059 intellectual disability ISO RGD:1346867 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11761294 LOC100994150 olfactory receptor 4D1 gene DOID:630 genetic disease ISO RGD:1346867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761297 ZNF354A zinc finger protein 354A gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1353304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11761297 ZNF354A zinc finger protein 354A gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1353304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11761297 ZNF354A zinc finger protein 354A gene DOID:0112103 Sotos syndrome 1 ISO RGD:1353304 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11761297 ZNF354A zinc finger protein 354A gene DOID:4440 seminoma ISO RGD:1353304 D RGD:9068941 20200609 RGD mRNA:increased expression:testis PMID:9788609|REF_RGD_ID:2291889 11761297 ZNF354A zinc finger protein 354A gene DOID:630 genetic disease ISO RGD:1353304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761297 ZNF354A zinc finger protein 354A gene DOID:8719 in situ carcinoma ISO RGD:1353304 D RGD:9068941 20200609 RGD mRNA:increased expression:testis PMID:9788609|REF_RGD_ID:2291889 11761297 ZNF354A zinc finger protein 354A gene DOID:9004009 Reperfusion Injury ISO RGD:2967 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:8382778|REF_RGD_ID:1300202 11761305 MUC7 mucin 7, secreted gene DOID:2841 asthma ISO RGD:1344843 D RGD:7240710 20230505 OMIM 11761305 MUC7 mucin 7, secreted gene DOID:2841 asthma ISO RGD:1344843 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Asthma, protection against PMID:11378823|PMID:16759176|PMID:28492532 11761305 MUC7 mucin 7, secreted gene DOID:630 genetic disease ISO RGD:1344843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761305 MUC7 mucin 7, secreted gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1344843 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11761334 GPX6 glutathione peroxidase 6 gene DOID:0060041 autism spectrum disorder ISO RGD:735998 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11761334 GPX6 glutathione peroxidase 6 gene DOID:11372 megacolon ISO RGD:735998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11761334 GPX6 glutathione peroxidase 6 gene DOID:12858 Huntington's disease ISO RGD:735998 D RGD:9068941 20200609 RGD PMID:18588971|REF_RGD_ID:13432193 11761334 GPX6 glutathione peroxidase 6 gene DOID:4001 ovarian carcinoma ISO RGD:735998 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:25581431 11761334 GPX6 glutathione peroxidase 6 gene DOID:630 genetic disease ISO RGD:735998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761346 ATXN1 ataxin 1 gene DOID:0050954 spinocerebellar ataxia type 1 ISO RGD:1344585 D RGD:7240710 20180725 OMIM 11761346 ATXN1 ataxin 1 gene DOID:0050954 spinocerebellar ataxia type 1 ISO RGD:1344585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 1 PMID:25741868 11761346 ATXN1 ataxin 1 gene DOID:0060224 atrial fibrillation ISO RGD:1344585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11761346 ATXN1 ataxin 1 gene DOID:1289 neurodegenerative disease ISO RGD:1344585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28182653 11761346 ATXN1 ataxin 1 gene DOID:5419 schizophrenia ISO RGD:1344585 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11761346 ATXN1 ataxin 1 gene DOID:5679 retinal disease ISO RGD:1344585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28182653 11761346 ATXN1 ataxin 1 gene DOID:630 genetic disease ISO RGD:1344585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11761346 ATXN1 ataxin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1344585 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:25741868 11761346 ATXN1 ataxin 1 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1344585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11719269|PMID:16122429|PMID:17322884|PMID:18337722 11761360 VRK2 VRK serine/threonine kinase 2 gene DOID:0111082 Fanconi anemia complementation group L ISO RGD:1323120 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group L PMID:19405097|PMID:21279724|PMID:25741868|PMID:26822237|PMID:26822949|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:30306255|PMID:32235514 11761360 VRK2 VRK serine/threonine kinase 2 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1323120 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:19405097|PMID:21279724|PMID:25741868|PMID:26822237|PMID:26822949|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:30306255|PMID:32235514 11761360 VRK2 VRK serine/threonine kinase 2 gene DOID:13636 Fanconi anemia ISO RGD:1323120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:12973351|PMID:17938197|PMID:19111657|PMID:19405097|PMID:21279724|PMID:23613520|PMID:24389026|PMID:25741868|PMID:26149689|PMID:26822237|PMID:26822949|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:30306255|PMID:32235514 11761360 VRK2 VRK serine/threonine kinase 2 gene DOID:1826 epilepsy ISO RGD:1323120 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11761360 VRK2 VRK serine/threonine kinase 2 gene DOID:630 genetic disease ISO RGD:1323120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761403 VASH2 vasohibin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1602689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11761403 VASH2 vasohibin 2 gene DOID:630 genetic disease ISO RGD:1602689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761403 VASH2 vasohibin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11761413 RABIF RAB interacting factor gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1344362 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11761413 RABIF RAB interacting factor gene DOID:1540 parathyroid carcinoma ISO RGD:1344362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11761413 RABIF RAB interacting factor gene DOID:630 genetic disease ISO RGD:1344362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761413 RABIF RAB interacting factor gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1344362 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11761413 RABIF RAB interacting factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11761419 RAB29 RAB29, member RAS oncogene family gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:736472 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11761419 RAB29 RAB29, member RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:736472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11761419 RAB29 RAB29, member RAS oncogene family gene DOID:1540 parathyroid carcinoma ISO RGD:736472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11761419 RAB29 RAB29, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:736472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761419 RAB29 RAB29, member RAS oncogene family gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736472 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11761419 RAB29 RAB29, member RAS oncogene family gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11761460 CASP8AP2 caspase 8 associated protein 2 gene DOID:630 genetic disease ISO RGD:1314005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761496 NCALD neurocalcin delta gene DOID:0080600 COVID-19 ISO RGD:1348281 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11761496 NCALD neurocalcin delta gene DOID:0111590 Cohen syndrome ISO RGD:1348281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 11761496 NCALD neurocalcin delta gene DOID:630 genetic disease ISO RGD:1348281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761520 LOC100972794 olfactory receptor 8H2 gene DOID:1059 intellectual disability ISO RGD:1346035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11761520 LOC100972794 olfactory receptor 8H2 gene DOID:630 genetic disease ISO RGD:1346035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761521 CARM1 coactivator associated arginine methyltransferase 1 gene DOID:0050868 hepatocellular adenoma ISO RGD:1305879 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:23912631|REF_RGD_ID:9586718 11761521 CARM1 coactivator associated arginine methyltransferase 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1314176 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11761521 CARM1 coactivator associated arginine methyltransferase 1 gene DOID:0060075 estrogen-receptor positive breast cancer disease_progression ISO RGD:1314176 D RGD:9068941 20200609 RGD protein:increased expression:breast: PMID:23887673|REF_RGD_ID:9586721 11761521 CARM1 coactivator associated arginine methyltransferase 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1314176 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11761521 CARM1 coactivator associated arginine methyltransferase 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1314176 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11761521 CARM1 coactivator associated arginine methyltransferase 1 gene DOID:13810 familial hypercholesterolemia ISO RGD:1314176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:28492532 11761521 CARM1 coactivator associated arginine methyltransferase 1 gene DOID:2841 asthma ISO RGD:1305879 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:20423833|REF_RGD_ID:9491823 11761521 CARM1 coactivator associated arginine methyltransferase 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1314176 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11761521 CARM1 coactivator associated arginine methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1314176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761521 CARM1 coactivator associated arginine methyltransferase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1305879 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:23912631|REF_RGD_ID:9586718 11761521 CARM1 coactivator associated arginine methyltransferase 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:1314176 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:15221992|REF_RGD_ID:2293206 11761521 CARM1 coactivator associated arginine methyltransferase 1 gene DOID:8893 psoriasis ISO RGD:1314176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143594 11761521 CARM1 coactivator associated arginine methyltransferase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314176 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:15221992|REF_RGD_ID:2293206 11761545 ATAT1 alpha tubulin acetyltransferase 1 gene DOID:11372 megacolon ISO RGD:1347627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11761545 ATAT1 alpha tubulin acetyltransferase 1 gene DOID:630 genetic disease ISO RGD:1347627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761545 ATAT1 alpha tubulin acetyltransferase 1 gene DOID:9002189 High Myopia ISO RGD:1347627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11761545 ATAT1 alpha tubulin acetyltransferase 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1347627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11761585 RAD9B RAD9 checkpoint clamp component B gene DOID:0080074 neural tube defect ISO RGD:1317874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect 11761585 RAD9B RAD9 checkpoint clamp component B gene DOID:630 genetic disease ISO RGD:1317874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761609 STK17B serine/threonine kinase 17b gene DOID:630 genetic disease ISO RGD:732463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761609 STK17B serine/threonine kinase 17b gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11761621 SHCBP1L SHC binding and spindle associated 1 like gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1313739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 11761621 SHCBP1L SHC binding and spindle associated 1 like gene DOID:10283 prostate cancer ISO RGD:1313739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11761621 SHCBP1L SHC binding and spindle associated 1 like gene DOID:1540 parathyroid carcinoma ISO RGD:1313739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11761621 SHCBP1L SHC binding and spindle associated 1 like gene DOID:630 genetic disease ISO RGD:1313739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761621 SHCBP1L SHC binding and spindle associated 1 like gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1313739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11761621 SHCBP1L SHC binding and spindle associated 1 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11761637 NCBP1 nuclear cap binding protein subunit 1 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1319058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 11761637 NCBP1 nuclear cap binding protein subunit 1 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1319058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 11761637 NCBP1 nuclear cap binding protein subunit 1 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1319058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 11761637 NCBP1 nuclear cap binding protein subunit 1 gene DOID:1059 intellectual disability ISO RGD:1319058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11761637 NCBP1 nuclear cap binding protein subunit 1 gene DOID:12712 nephronophthisis ISO RGD:1319058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 11761637 NCBP1 nuclear cap binding protein subunit 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1319058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 11761637 NCBP1 nuclear cap binding protein subunit 1 gene DOID:630 genetic disease ISO RGD:1319058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761637 NCBP1 nuclear cap binding protein subunit 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:1319058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 11761670 CASP8 caspase 8 gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:620945 D RGD:9068941 20200609 RGD associated with gastric adenocarcinoma PMID:29588340|REF_RGD_ID:13792594 11761670 CASP8 caspase 8 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:730846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11761670 CASP8 caspase 8 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:730846 D RGD:7240710 20180328 OMIM 11761670 CASP8 caspase 8 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:730846 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:15601643|PMID:15998955|PMID:16199547|PMID:17293864|PMID:17576681|PMID:19380800|PMID:19763152|PMID:20307669|PMID:22406018|PMID:24033266|PMID:25213377|PMID:25329329|PMID:25640679|PMID:25741868|PMID:25814141|PMID:26193622|PMID:26556299|PMID:28492532|PMID:29729943|PMID:30267714|PMID:30326257|PMID:32135276|PMID:34362880|PMID:9536098 11761670 CASP8 caspase 8 gene DOID:104 bacterial infectious disease ISO RGD:730847 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:16443785|REF_RGD_ID:2311430 11761670 CASP8 caspase 8 gene DOID:10652 Alzheimer's disease ISO RGD:730846 D RGD:9068941 20200609 RGD PMID:12633148|PMID:16772874|REF_RGD_ID:13782268|REF_RGD_ID:13782269 11761670 CASP8 caspase 8 gene DOID:10652 Alzheimer's disease treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:29642617|REF_RGD_ID:13782291 11761670 CASP8 caspase 8 gene DOID:10763 hypertension ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:27929425|REF_RGD_ID:13782308 11761670 CASP8 caspase 8 gene DOID:10952 nephritis treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:28039298|REF_RGD_ID:13782307 11761670 CASP8 caspase 8 gene DOID:11166 papillomavirus infectious disease ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23358896 11761670 CASP8 caspase 8 gene DOID:114 heart disease ISO RGD:620945 D RGD:9068941 20200609 RGD associated with Multiple Trauma PMID:28825094|REF_RGD_ID:13782301 11761670 CASP8 caspase 8 gene DOID:11446 sciatic neuropathy ISO RGD:620945 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal root ganglion PMID:29659443|REF_RGD_ID:13782273 11761670 CASP8 caspase 8 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:26431790|REF_RGD_ID:11537057 11761670 CASP8 caspase 8 gene DOID:12858 Huntington's disease ISO RGD:730846 D RGD:9068941 20200609 RGD protein:altered localization:cerebellum: PMID:10197541|REF_RGD_ID:734695 11761670 CASP8 caspase 8 gene DOID:12930 dilated cardiomyopathy ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:26004897|REF_RGD_ID:13782348 11761670 CASP8 caspase 8 gene DOID:1324 lung cancer ISO RGD:730846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung cancer, protection against PMID:17450141|PMID:18305469 11761670 CASP8 caspase 8 gene DOID:1612 breast cancer ISO RGD:730846 D RGD:7240710 20180711 OMIM 11761670 CASP8 caspase 8 gene DOID:1612 breast cancer ISO RGD:730846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, protection against PMID:15601643|PMID:15998955|PMID:17293864|PMID:24033266|PMID:28492532 11761670 CASP8 caspase 8 gene DOID:1793 pancreatic cancer ISO RGD:730846 D RGD:9068941 20200609 RGD DNA:SNP: :rs1045485 (human) PMID:19843670|REF_RGD_ID:2317230 11761670 CASP8 caspase 8 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:730846 D RGD:9068941 20200609 RGD DNA:deletion, insertion:promoter (human) PMID:18483392|REF_RGD_ID:2315744 11761670 CASP8 caspase 8 gene DOID:1824 status epilepticus ISO RGD:620945 D RGD:9068941 20200609 RGD protein:increased activity:hippocampus PMID:15036620|REF_RGD_ID:2311439 11761670 CASP8 caspase 8 gene DOID:1824 status epilepticus ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18571097 11761670 CASP8 caspase 8 gene DOID:1909 melanoma ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18563783|PMID:21983787 11761670 CASP8 caspase 8 gene DOID:224 transient cerebral ischemia ISO RGD:620945 D RGD:9068941 20220527 RGD protein:increased expression:cerebral cortex: PMID:18096138|REF_RGD_ID:4142863 11761670 CASP8 caspase 8 gene DOID:224 transient cerebral ischemia treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:30148677|REF_RGD_ID:13782286 11761670 CASP8 caspase 8 gene DOID:2773 contact dermatitis ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11761670 CASP8 caspase 8 gene DOID:299 adenocarcinoma ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 11761670 CASP8 caspase 8 gene DOID:3042 allergic contact dermatitis ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 11761670 CASP8 caspase 8 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:28496315|REF_RGD_ID:13782303 11761670 CASP8 caspase 8 gene DOID:3310 atopic dermatitis ISO RGD:730847 D RGD:9068941 20220825 MouseDO OMIM:603165 11761670 CASP8 caspase 8 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:730846 D RGD:9068941 20220811 RGD mRNA,protein:decreased expression:esophagus squamous epithelium (human) PMID:31885720|REF_RGD_ID:153300949 11761670 CASP8 caspase 8 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20471133 11761670 CASP8 caspase 8 gene DOID:417 autoimmune disease ISO RGD:730846 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:17880769|REF_RGD_ID:2311245 11761670 CASP8 caspase 8 gene DOID:4195 hyperglycemia ISO RGD:730847 D RGD:9068941 20200609 RGD PMID:19194987|REF_RGD_ID:2311428 11761670 CASP8 caspase 8 gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:730846 D RGD:9068941 20210521 RGD DNA:SNP:5'utr: (rs1035142) (human) PMID:21472143|REF_RGD_ID:126925218 11761670 CASP8 caspase 8 gene DOID:5082 liver cirrhosis ISO RGD:730847 D RGD:9068941 20200609 RGD associated with cholestasis PMID:29105510|REF_RGD_ID:13782297 11761670 CASP8 caspase 8 gene DOID:5327 retinal detachment treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:28633009|REF_RGD_ID:13782302 11761670 CASP8 caspase 8 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23358896 11761670 CASP8 caspase 8 gene DOID:557 kidney disease ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:29257007|REF_RGD_ID:13782293 11761670 CASP8 caspase 8 gene DOID:612 primary immunodeficiency disease ISO RGD:730846 D RGD:9068941 20200609 RGD PMID:12353035|REF_RGD_ID:734696 11761670 CASP8 caspase 8 gene DOID:630 genetic disease ISO RGD:730846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11761670 CASP8 caspase 8 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11761670 CASP8 caspase 8 gene DOID:684 hepatocellular carcinoma ISO RGD:730846 D RGD:7240710 20180130 OMIM 11761670 CASP8 caspase 8 gene DOID:684 hepatocellular carcinoma severity ISO RGD:730846 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:insertion/deletion:promoter: (rs3834129) (human) PMID:28643196|REF_RGD_ID:14695027 11761670 CASP8 caspase 8 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:29133031|REF_RGD_ID:13782296 11761670 CASP8 caspase 8 gene DOID:700 mitochondrial metabolism disease ISO RGD:730846 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30673822 11761670 CASP8 caspase 8 gene DOID:9000117 Esophageal Neoplasms ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17450141|PMID:21472143 11761670 CASP8 caspase 8 gene DOID:9000197 Edema ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19874808 11761670 CASP8 caspase 8 gene DOID:9000217 Stomach Neoplasms ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17450141 11761670 CASP8 caspase 8 gene DOID:9000469 Viral Myocarditis ISO RGD:730847 D RGD:9068941 20200609 RGD PMID:21055654|REF_RGD_ID:13702877 11761670 CASP8 caspase 8 gene DOID:9000855 Experimental Radiation Injuries treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:24939579|REF_RGD_ID:13782350 11761670 CASP8 caspase 8 gene DOID:9000998 Brain Injuries ISO RGD:620945 D RGD:9068941 20200609 RGD protein:altered localization PMID:15590916|REF_RGD_ID:1624191 11761670 CASP8 caspase 8 gene DOID:9001708 Hemorrhagic Shock ISO RGD:620945 D RGD:9068941 20200609 RGD associated with Brain Injuries, Traumatic PMID:29061477|REF_RGD_ID:13782298 11761670 CASP8 caspase 8 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:730846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 11761670 CASP8 caspase 8 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:23423194|REF_RGD_ID:8661760 11761670 CASP8 caspase 8 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:730847 D RGD:9068941 20200609 RGD PMID:15300206|REF_RGD_ID:14695087 11761670 CASP8 caspase 8 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:620945 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:29606028|REF_RGD_ID:13792586 11761670 CASP8 caspase 8 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:620945 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:28456626|REF_RGD_ID:13782304 11761670 CASP8 caspase 8 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:730847 D RGD:9068941 20200609 RGD PMID:23833961|REF_RGD_ID:13702874 11761670 CASP8 caspase 8 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17971790 11761670 CASP8 caspase 8 gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:28096675|REF_RGD_ID:13782306 11761670 CASP8 caspase 8 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:620945 D RGD:9068941 20200609 RGD protein:increased activity, increased expression:spinal cord PMID:18521931|REF_RGD_ID:2311436 11761670 CASP8 caspase 8 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17450141 11761670 CASP8 caspase 8 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:23046993|REF_RGD_ID:13782359 11761670 CASP8 caspase 8 gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:29635023|REF_RGD_ID:13782292 11761670 CASP8 caspase 8 gene DOID:9004009 Reperfusion Injury ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23875703 11761670 CASP8 caspase 8 gene DOID:9004332 Osteoarthritis, Experimental treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:29621761|REF_RGD_ID:13782275 11761670 CASP8 caspase 8 gene DOID:9004354 Alcohol-Related Disorders treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:30118883|REF_RGD_ID:13782287 11761670 CASP8 caspase 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11761670 CASP8 caspase 8 gene DOID:9004464 Skin Neoplasms ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18563783 11761670 CASP8 caspase 8 gene DOID:9004484 Sepsis ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:18570579|REF_RGD_ID:2311435 11761670 CASP8 caspase 8 gene DOID:9004484 Sepsis treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:29180187|REF_RGD_ID:13782295 11761670 CASP8 caspase 8 gene DOID:9004590 Acute Liver Failure treatment ISO RGD:730847 D RGD:9068941 20200609 RGD PMID:12810955|REF_RGD_ID:14695025 11761670 CASP8 caspase 8 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:29755641|REF_RGD_ID:13782288 11761670 CASP8 caspase 8 gene DOID:9005020 Brain Contusion treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:28140659|REF_RGD_ID:13782305 11761670 CASP8 caspase 8 gene DOID:9005172 Lung Neoplasms ISO RGD:730846 D RGD:7240710 20180130 OMIM 11761670 CASP8 caspase 8 gene DOID:9005233 Experimental Mammary Neoplasms severity ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:20732338|REF_RGD_ID:10053708 11761670 CASP8 caspase 8 gene DOID:9005539 Familial Prostate Cancer ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11761670 CASP8 caspase 8 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620945 D RGD:9068941 20200609 RGD protein:increased activity, increased expression:pituitary gland, prolactin secreting cell PMID:15976052|REF_RGD_ID:2311319 11761670 CASP8 caspase 8 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620945 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:pituitary gland PMID:19540304|REF_RGD_ID:2311427 11761670 CASP8 caspase 8 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730847 D RGD:9068941 20200609 RGD PMID:17563067|REF_RGD_ID:2311429 11761670 CASP8 caspase 8 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:28843149|REF_RGD_ID:13782300 11761670 CASP8 caspase 8 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:28992627|REF_RGD_ID:13782299 11761670 CASP8 caspase 8 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:25447754|REF_RGD_ID:10053709 11761670 CASP8 caspase 8 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:730846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11761670 CASP8 caspase 8 gene DOID:9007692 Insulin Resistance ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:29748970|REF_RGD_ID:13782289 11761670 CASP8 caspase 8 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620945 D RGD:9068941 20200609 RGD protein:increased activity:cardiomyocyte PMID:11934844|REF_RGD_ID:13782263 11761670 CASP8 caspase 8 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14998631 11761670 CASP8 caspase 8 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17450141 11761670 CASP8 caspase 8 gene DOID:9008939 Breast Neoplasms ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15601643|PMID:17293864|PMID:17450141|PMID:29915430 11761670 CASP8 caspase 8 gene DOID:9008952 Breast Cancer, Familial ISO RGD:730846 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532 11761670 CASP8 caspase 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15531508 11761670 CASP8 caspase 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730847 D RGD:9068941 20200609 RGD PMID:17563067|REF_RGD_ID:2311429 11761670 CASP8 caspase 8 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730847 D RGD:9068941 20200609 RGD PMID:12753807|REF_RGD_ID:2311431 11761670 CASP8 caspase 8 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22010212 11761716 LPAR1 lysophosphatidic acid receptor 1 gene DOID:2044 drug-induced hepatitis ISO RGD:731582 D RGD:9068941 20200609 RGD protein:increased expression:liver (mouse) PMID:12201952|REF_RGD_ID:10054288 11761716 LPAR1 lysophosphatidic acid receptor 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:620563 D RGD:9068941 20200609 RGD PMID:17173873|REF_RGD_ID:9850154 11761716 LPAR1 lysophosphatidic acid receptor 1 gene DOID:630 genetic disease ISO RGD:731581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761716 LPAR1 lysophosphatidic acid receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:620563 D RGD:9068941 20200609 RGD PMID:19000703|REF_RGD_ID:2317680 11761716 LPAR1 lysophosphatidic acid receptor 1 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:620563 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:17026968|REF_RGD_ID:2317696 11761716 LPAR1 lysophosphatidic acid receptor 1 gene DOID:9001916 Fetal Death ISO RGD:731581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11087877 11761716 LPAR1 lysophosphatidic acid receptor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16809448 11761716 LPAR1 lysophosphatidic acid receptor 1 gene DOID:9002331 Knee Osteoarthritis susceptibility ISO RGD:731581 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-2820G>A (rs10980705) (human) PMID:18325907|REF_RGD_ID:10054291 11761716 LPAR1 lysophosphatidic acid receptor 1 gene DOID:9004042 Olfaction Disorders ISO RGD:731581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11087877 11761716 LPAR1 lysophosphatidic acid receptor 1 gene DOID:9006257 Growth Disorders ISO RGD:731581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11087877 11761716 LPAR1 lysophosphatidic acid receptor 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:731581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 11761716 LPAR1 lysophosphatidic acid receptor 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:731581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11087877 11761716 LPAR1 lysophosphatidic acid receptor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:731581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 11761716 LPAR1 lysophosphatidic acid receptor 1 gene DOID:9119 acute myeloid leukemia ISO RGD:731581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11761739 ULK4 unc-51 like kinase 4 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1346964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 11761739 ULK4 unc-51 like kinase 4 gene DOID:1059 intellectual disability ISO RGD:1346964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, moderate 11761739 ULK4 unc-51 like kinase 4 gene DOID:10908 hydrocephalus ISO RGD:1608439 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 11761739 ULK4 unc-51 like kinase 4 gene DOID:5419 schizophrenia ISO RGD:1346964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11761739 ULK4 unc-51 like kinase 4 gene DOID:630 genetic disease ISO RGD:1346964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761739 ULK4 unc-51 like kinase 4 gene DOID:9538 multiple myeloma ISO RGD:1346964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22120009 11761739 ULK4 unc-51 like kinase 4 gene DOID:9970 obesity ISO RGD:1346964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity 11761785 FEN1 flap structure-specific endonuclease 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:732679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11761785 FEN1 flap structure-specific endonuclease 1 gene DOID:1059 intellectual disability ISO RGD:732679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11761785 FEN1 flap structure-specific endonuclease 1 gene DOID:1612 breast cancer disease_progression ISO RGD:732679 D RGD:9068941 20200609 RGD DNA,mRNA:hypomethylation,increased expression:promoter,breast PMID:19010819|REF_RGD_ID:6484520 11761785 FEN1 flap structure-specific endonuclease 1 gene DOID:299 adenocarcinoma susceptibility ISO RGD:732680 D RGD:9068941 20200609 RGD PMID:12119409|REF_RGD_ID:737746 11761785 FEN1 flap structure-specific endonuclease 1 gene DOID:417 autoimmune disease ISO RGD:732680 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E160D PMID:17589521|REF_RGD_ID:6484213 11761785 FEN1 flap structure-specific endonuclease 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11761785 FEN1 flap structure-specific endonuclease 1 gene DOID:630 genetic disease ISO RGD:732679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761785 FEN1 flap structure-specific endonuclease 1 gene DOID:9002245 Intestinal Neoplasms disease_progression ISO RGD:10166 D RGD:9068941 20200609 RGD DNA:haploinsufficiency: : PMID:12119409|REF_RGD_ID:737746 11761785 FEN1 flap structure-specific endonuclease 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732679 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28371273 11761785 FEN1 flap structure-specific endonuclease 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732680 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E160D PMID:17589521|REF_RGD_ID:6484213 11761785 FEN1 flap structure-specific endonuclease 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:732679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 11761785 FEN1 flap structure-specific endonuclease 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732679 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24836286 11761791 IL31 interleukin 31 gene DOID:3310 atopic dermatitis ISO RGD:1353267 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 11761791 IL31 interleukin 31 gene DOID:630 genetic disease ISO RGD:1353267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761800 KMT5C lysine methyltransferase 5C gene DOID:630 genetic disease ISO RGD:1346503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761800 KMT5C lysine methyltransferase 5C gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1305226 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:21357467|REF_RGD_ID:9586742 11761800 KMT5C lysine methyltransferase 5C gene DOID:916 liver benign neoplasm disease_progression ISO RGD:1305226 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:16497704|REF_RGD_ID:9586726 11761812 DMKN dermokine gene DOID:0110222 Brugada syndrome 5 ISO RGD:1605012 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11761812 DMKN dermokine gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1605012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11761812 DMKN dermokine gene DOID:543 dystonia ISO RGD:1605012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11761812 DMKN dermokine gene DOID:630 genetic disease ISO RGD:1605012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761850 RFXAP regulatory factor X associated protein gene DOID:5812 MHC class II deficiency ISO RGD:1348538 D RGD:7240710 20180207 OMIM 11761850 RFXAP regulatory factor X associated protein gene DOID:5812 MHC class II deficiency ISO RGD:1348538 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bare Lymphocyte Syndrome, Type II, Complementation Group D | ClinVar Annotator: match by term: MHC class II deficiency PMID:12498778|PMID:17576681|PMID:20197681|PMID:22390233|PMID:25741868|PMID:28492532|PMID:31589614|PMID:650344|PMID:7021490|PMID:9118943|PMID:9287230|PMID:9536098 11761850 RFXAP regulatory factor X associated protein gene DOID:630 genetic disease ISO RGD:1348538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11761857 UBL5 ubiquitin like 5 gene DOID:12849 autistic disorder ISO RGD:1351956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11761869 C17H17orf75 chromosome 17 C17orf75 homolog gene DOID:630 genetic disease ISO RGD:1602870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761889 SDCBP2 syndecan binding protein 2 gene DOID:630 genetic disease ISO RGD:1317056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11761909 LEMD3 LEM domain containing 3 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1343559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 11761909 LEMD3 LEM domain containing 3 gene DOID:0111536 Buschke-Ollendorff syndrome ISO RGD:1343559 D RGD:7240710 20180130 OMIM 11761909 LEMD3 LEM domain containing 3 gene DOID:0111536 Buschke-Ollendorff syndrome ISO RGD:1343559 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata | ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata, isolated | ClinVar Annotator: match by term: Melorheostosis with osteopoikilosis | ClinVar Annotator: match by term: OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS PMID:12749062|PMID:15489854|PMID:16470551|PMID:17087626|PMID:17223882|PMID:19438932|PMID:25741868|PMID:27382493|PMID:28434888|PMID:28492532|PMID:9295073 11761909 LEMD3 LEM domain containing 3 gene DOID:0111536 Buschke-Ollendorff syndrome no_association ISO RGD:1343559 D RGD:9068941 20200609 RGD PMID:20083694|REF_RGD_ID:11553842 11761909 LEMD3 LEM domain containing 3 gene DOID:11991 Osteopoikilosis ISO RGD:1343559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteopoikilosis PMID:15489854 11761909 LEMD3 LEM domain containing 3 gene DOID:630 genetic disease ISO RGD:1343559 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11761909 LEMD3 LEM domain containing 3 gene DOID:9005750 Melorheostosis with Osteopoikilosis ISO RGD:1343559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Melorheostosis with osteopoikilosis PMID:12749062|PMID:15489854|PMID:16470551|PMID:17087626|PMID:19438932|PMID:28492532|PMID:9295073 11761909 LEMD3 LEM domain containing 3 gene DOID:9006066 Familial Cutaneous Collagenoma ISO RGD:1343559 D RGD:9068941 20200609 RGD DNA:transition mutation:intron: 1522+1G>A(human) PMID:17223882|REF_RGD_ID:11553841 11761926 SYNE2 spectrin repeat containing nuclear envelope protein 2 gene DOID:0050848 obstructive sleep apnea ISO RGD:1312719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obstructive sleep apnea syndrome PMID:25741868|PMID:28492532|PMID:30755392 11761926 SYNE2 spectrin repeat containing nuclear envelope protein 2 gene DOID:0050952 spastic ataxia ISO RGD:1312719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 11761926 SYNE2 spectrin repeat containing nuclear envelope protein 2 gene DOID:0060224 atrial fibrillation ISO RGD:1312719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22544366|PMID:29892015 11761926 SYNE2 spectrin repeat containing nuclear envelope protein 2 gene DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 ISO RGD:1312719 D RGD:7240710 20180912 OMIM 11761926 SYNE2 spectrin repeat containing nuclear envelope protein 2 gene DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 ISO RGD:1312719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant PMID:16199547|PMID:17576681|PMID:17761684|PMID:18414213|PMID:22995991|PMID:25179549|PMID:25214167|PMID:25587064|PMID:25741868|PMID:26094658|PMID:26467025|PMID:27632638|PMID:28074886|PMID:28166811|PMID:28492532|PMID:28798025|PMID:30755392|PMID:9536098 11761926 SYNE2 spectrin repeat containing nuclear envelope protein 2 gene DOID:11383 cryptorchidism ISO RGD:1305248 D RGD:9068941 20200609 RGD DNA:deletion:exon: PMID:26502805|REF_RGD_ID:12911229 11761926 SYNE2 spectrin repeat containing nuclear envelope protein 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1312719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:26467025|PMID:28492532 11761926 SYNE2 spectrin repeat containing nuclear envelope protein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1312719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy 11761926 SYNE2 spectrin repeat containing nuclear envelope protein 2 gene DOID:1969 cerebral palsy ISO RGD:1312719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 11761926 SYNE2 spectrin repeat containing nuclear envelope protein 2 gene DOID:397 restrictive cardiomyopathy ISO RGD:1312719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:28492532 11761926 SYNE2 spectrin repeat containing nuclear envelope protein 2 gene DOID:4450 renal cell carcinoma ISO RGD:1312719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 11761926 SYNE2 spectrin repeat containing nuclear envelope protein 2 gene DOID:630 genetic disease ISO RGD:1312719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 11762059 ATP6V1E1 ATPase H+ transporting V1 subunit E1 gene DOID:0070140 autosomal recessive cutis laxa type IIC ISO RGD:1347206 D RGD:7240710 20190315 OMIM 11762059 ATP6V1E1 ATPase H+ transporting V1 subunit E1 gene DOID:0070140 autosomal recessive cutis laxa type IIC ISO RGD:1347206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC PMID:27023906|PMID:28065471 11762059 ATP6V1E1 ATPase H+ transporting V1 subunit E1 gene DOID:0111996 immunodeficiency 51 ISO RGD:1347206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11762059 ATP6V1E1 ATPase H+ transporting V1 subunit E1 gene DOID:630 genetic disease ISO RGD:1347206 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11762059 ATP6V1E1 ATPase H+ transporting V1 subunit E1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11762059 ATP6V1E1 ATPase H+ transporting V1 subunit E1 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1347206 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11762072 OLA1 Obg like ATPase 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1604016 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11762072 OLA1 Obg like ATPase 1 gene DOID:10283 prostate cancer ISO RGD:1604016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11762072 OLA1 Obg like ATPase 1 gene DOID:630 genetic disease ISO RGD:1604016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11762090 CIP2A cellular inhibitor of PP2A gene DOID:630 genetic disease ISO RGD:1343416 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11762119 LOC100991669 pyrin domain-containing protein 1 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1605835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11762119 LOC100991669 pyrin domain-containing protein 1 gene DOID:630 genetic disease ISO RGD:1605835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11762136 DPY19L3 dpy-19 like C-mannosyltransferase 3 gene DOID:630 genetic disease ISO RGD:1604230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:0050424 familial adenomatous polyposis ISO RGD:1348983 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:20951805|PMID:21157497|PMID:22980975|PMID:23636398|PMID:24033266|PMID:25079317|PMID:25224212|PMID:25529843|PMID:25559809|PMID:25642631|PMID:25741868|PMID:25860647|PMID:26467025|PMID:26822575|PMID:28427513|PMID:28492532|PMID:29120461|PMID:29987844|PMID:30194485 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 ISO RGD:1348983 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 PMID:25741868|PMID:28492532 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:0111503 Li-Fraumeni syndrome 1 ISO RGD:1348983 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 PMID:25741868|PMID:28492532 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1348983 D RGD:9068941 20220721 RGD DNA:SNP:CDS:rs4077170 (human) PMID:28218421|REF_RGD_ID:153297765 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:1324 lung cancer severity ISO RGD:1348983 D RGD:9068941 20220224 RGD DNA:missense mutation:CDS:p.A252V (human) PMID:17855454|REF_RGD_ID:11567235 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:1380 endometrial cancer ameliorates ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:missense mutations:CDS:p.P286R, p.V411L (human) PMID:29659608|REF_RGD_ID:151347857 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:1380 endometrial cancer ameliorates ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:missense mutations:multiple (human) PMID:29559562|REF_RGD_ID:151347650 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:1380 endometrial cancer disease_progression ISO RGD:1348983 D RGD:9068941 20220204 RGD protein:increased expression:endometrium (human) PMID:31866764|REF_RGD_ID:151347644 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:1380 endometrial cancer onset ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:polymorphisms:multiple (human) PMID:25224212|REF_RGD_ID:151347645 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:1520 colon carcinoma ISO RGD:1348983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:15766587|PMID:23263490|PMID:23447401|PMID:24033266|PMID:24480973|PMID:24525744|PMID:25111073|PMID:25224212|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27244218|PMID:28125075|PMID:28492532|PMID:28873162 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:1520 colon carcinoma ISO RGD:1348983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:15766587|PMID:16199547|PMID:23230001|PMID:24033266|PMID:24480973|PMID:24525744|PMID:25637381|PMID:25741868|PMID:25948378|PMID:26467025|PMID:27244218|PMID:28125075|PMID:28492532|PMID:28873162|PMID:29987844|PMID:30503519|PMID:32792570|PMID:34347074 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:1612 breast cancer ISO RGD:1348983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:21701589|PMID:23263490|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27153395|PMID:28492532|PMID:28873162|PMID:29458332|PMID:29641532|PMID:30267214|PMID:30503519|PMID:33558524 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:218 ascending colon cancer onset ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:mutations:multiple (human) PMID:28404093|REF_RGD_ID:151347649 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:218 ascending colon cancer susceptibility ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:missense mutation:CDS, exon 9:p.P286R (human) PMID:27612425|REF_RGD_ID:151347640 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:218 ascending colon cancer susceptibility ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:mutations:multiple (human, non-Asian) PMID:33125191|REF_RGD_ID:151347651 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:219 colon cancer ISO RGD:1348983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:25741868|PMID:28492532 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:2394 ovarian cancer ISO RGD:1348983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer PMID:26467025|PMID:28492532 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:2661 myoepithelioma ISO RGD:1348983 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:2871 endometrial carcinoma ISO RGD:1348983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:25741868|PMID:26467025|PMID:27217144|PMID:28492532 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:3068 glioblastoma ISO RGD:1348983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:25228659|PMID:26619011|PMID:29352080 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:363 uterine cancer ISO RGD:1348983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:23447401|PMID:24525744|PMID:24844595|PMID:25228659|PMID:26619011|PMID:28492532|PMID:29352080 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:3717 gastric adenocarcinoma ISO RGD:1348983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:25228659|PMID:26619011|PMID:29352080 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:3907 lung squamous cell carcinoma ameliorates ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:mutations:multiple (human) PMID:29650000|REF_RGD_ID:151347653 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:mutations:multiple (human) PMID:32433714|REF_RGD_ID:151347639 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1348983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:23447401|PMID:24525744|PMID:24844595|PMID:25228659|PMID:26619011|PMID:28492532 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348983 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 PMID:25741868|PMID:28492532 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:6171 uterine carcinosarcoma ISO RGD:1348983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:23447401|PMID:24525744|PMID:24844595|PMID:25228659|PMID:26619011|PMID:28492532 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:630 genetic disease ISO RGD:1348983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:29056344 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9000282 IMAGEI Syndrome ISO RGD:1348983 D RGD:7240710 20190315 OMIM 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9000282 IMAGEI Syndrome ISO RGD:1348983 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: IMAGEI SYNDROME | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency PMID:14760276|PMID:16835919|PMID:17576681|PMID:20091185|PMID:21129811|PMID:23230001|PMID:23263490|PMID:23447401|PMID:24033266|PMID:25741868|PMID:25948378|PMID:26467025|PMID:28492532|PMID:29056344|PMID:29754823|PMID:30503519|PMID:9536098 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1348983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Endometrioid adenocarcinoma PMID:23447401|PMID:24525744|PMID:24844595|PMID:25228659|PMID:26619011|PMID:28492532 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9004265 Endometrioid Carcinomas ameliorates ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:mutations:multiple (human) PMID:29505428|REF_RGD_ID:151347648 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348983 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15285897|PMID:15766587|PMID:16699561|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31673068|PMID:31769227|PMID:31829442|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32992294|PMID:33001133|PMID:33193653|PMID:9536098 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348983 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15285897|PMID:15766587|PMID:16699561|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31673068|PMID:31769227|PMID:31829442|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32992294|PMID:33001133|PMID:33193653|PMID:9536098 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:34347074|PMID:34549727|PMID:9536098 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348983 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:34347074|PMID:34549727|PMID:9536098 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9007936 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature ISO RGD:1348983 D RGD:7240710 20190315 OMIM 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9007936 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature ISO RGD:1348983 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Facial dysmorphism, immunodeficiency, livedo, and short stature PMID:16699561|PMID:17576681|PMID:20091185|PMID:21129811|PMID:23230001|PMID:23263490|PMID:24033266|PMID:24501277|PMID:25370038|PMID:25529843|PMID:25559809|PMID:25741868|PMID:25948378|PMID:26302956|PMID:26467025|PMID:27683556|PMID:28050010|PMID:28492532|PMID:29755653|PMID:29758562|PMID:30049826|PMID:30362666|PMID:30503519|PMID:30827058|PMID:32424176|PMID:32546565|PMID:9536098 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9008443 Colorectal Neoplasms ISO RGD:1348983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:23447401|PMID:24525744|PMID:24844595|PMID:25228659|PMID:26619011|PMID:28492532|PMID:29352080 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9008939 Breast Neoplasms ISO RGD:1348983 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:24844595|PMID:26619011|PMID:28492532 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9008939 Breast Neoplasms ISO RGD:1348983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:23447401|PMID:24525744|PMID:24844595|PMID:25228659|PMID:26619011|PMID:28492532 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:7240710 20230505 OMIM 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29641532|PMID:29755653|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31285513|PMID:31308508|PMID:31769227|PMID:31829442|PMID:32424176|PMID:32792570|PMID:32885271|PMID:9536098 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31829442|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:9536098 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 3 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31829442|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:9536098 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31829442|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:9536098 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31829442|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:9536098 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:9536098 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 3 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:9536098 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29754823|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:9536098 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29754823|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:9536098 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer disease_progression ISO RGD:1348983 D RGD:9068941 20220204 RGD protein:decreased expression:colorectum (human) PMID:32567205|REF_RGD_ID:151347643 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer exacerbates ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:mutations:multiple (human) PMID:25124163|REF_RGD_ID:151347642 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer onset ISO RGD:1348983 D RGD:9068941 20220224 RGD DNA:mutations:multiple (human) PMID:27244218|REF_RGD_ID:151356953 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer severity ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:missense mutation:CDS:multiple (human) PMID:32859741|REF_RGD_ID:151347638 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:missense mutation:CDS, exon 9:p.P286R (human) PMID:27612425|REF_RGD_ID:151347640 11762173 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:missense mutation:CDS:p.L424V (human) PMID:29120461|REF_RGD_ID:151347652 11762235 CHCT1 CHD1 helical C-terminal domain containing 1 gene DOID:0050777 Joubert syndrome ISO RGD:1603589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11762235 CHCT1 CHD1 helical C-terminal domain containing 1 gene DOID:11372 megacolon ISO RGD:1603589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11762249 LOC100995562 melanoma-associated antigen B4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11762249 LOC100995562 melanoma-associated antigen B4 gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:1346783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked PMID:17504899|PMID:20685758|PMID:21408189|PMID:26980296|PMID:28492532 11762249 LOC100995562 melanoma-associated antigen B4 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1346783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:12632325|PMID:19937601|PMID:22510846|PMID:23453023|PMID:24302611|PMID:24504883|PMID:28492532|PMID:31705731 11762249 LOC100995562 melanoma-associated antigen B4 gene DOID:12849 autistic disorder ISO RGD:1346783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11762249 LOC100995562 melanoma-associated antigen B4 gene DOID:630 genetic disease ISO RGD:1346783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11762249 LOC100995562 melanoma-associated antigen B4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11762319 TLCD2 TLC domain containing 2 gene DOID:630 genetic disease ISO RGD:2292702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11762330 LOC100967708 olfactory receptor 2V2 gene DOID:630 genetic disease ISO RGD:1342510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11762333 SEC23A SEC23 homolog A, COPII coat complex component gene DOID:0070307 craniolenticulosutural dysplasia ISO RGD:1354109 D RGD:7240710 20180130 OMIM 11762333 SEC23A SEC23 homolog A, COPII coat complex component gene DOID:0070307 craniolenticulosutural dysplasia ISO RGD:1354109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniolenticulosutural dysplasia PMID:16980979|PMID:17576681|PMID:17981132|PMID:21039434|PMID:22298774|PMID:25741868|PMID:28492532|PMID:34580982|PMID:9536098 11762333 SEC23A SEC23 homolog A, COPII coat complex component gene DOID:630 genetic disease ISO RGD:1354109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11762333 SEC23A SEC23 homolog A, COPII coat complex component gene DOID:8398 osteoarthritis ISO RGD:1354109 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11762333 SEC23A SEC23 homolog A, COPII coat complex component gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1354109 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11762357 TAF4 TATA-box binding protein associated factor 4 gene DOID:630 genetic disease ISO RGD:1345040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11762376 LPCAT2 lysophosphatidylcholine acyltransferase 2 gene DOID:0080696 Winchester syndrome ISO RGD:1606279 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Winchester-Grossman syndrome 11762376 LPCAT2 lysophosphatidylcholine acyltransferase 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1606279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11762376 LPCAT2 lysophosphatidylcholine acyltransferase 2 gene DOID:630 genetic disease ISO RGD:1606279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11762376 LPCAT2 lysophosphatidylcholine acyltransferase 2 gene DOID:9006569 Osteolysis Hereditary Multicentric ISO RGD:1606279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteolysis, hereditary multicentric 11762397 LOC100971765 olfactory receptor 8I2 gene DOID:1059 intellectual disability ISO RGD:1352416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11762397 LOC100971765 olfactory receptor 8I2 gene DOID:630 genetic disease ISO RGD:1352416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11762398 SPATS1 spermatogenesis associated serine rich 1 gene DOID:630 genetic disease ISO RGD:736705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11762420 GTF2A1 general transcription factor IIA subunit 1 gene DOID:630 genetic disease ISO RGD:733620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11762436 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1316207 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:15976379|PMID:17597647|PMID:18246475|PMID:18317237|PMID:18603241|PMID:18676873|PMID:22145626|PMID:22304854|PMID:22434821|PMID:22435821|PMID:22800827|PMID:22866751|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24136335|PMID:24871971|PMID:25073622|PMID:25553246|PMID:25741868|PMID:27374344|PMID:27516224|PMID:28034695|PMID:28492532|PMID:28642621|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32238781|PMID:32692933|PMID:33526094|PMID:34132118 11762436 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1316207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 11762436 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1316207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11762436 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:10283 prostate cancer ISO RGD:1316207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11762436 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:11162 respiratory failure ISO RGD:1316207 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Respiratory failure | ClinVar Annotator: match by term: Respiratory insufficiency PMID:15976379|PMID:17597647|PMID:18246475|PMID:18317237|PMID:18603241|PMID:18676873|PMID:22145626|PMID:22304854|PMID:22434821|PMID:22435821|PMID:22800827|PMID:22866751|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24136335|PMID:24871971|PMID:25073622|PMID:25553246|PMID:25741868|PMID:27374344|PMID:27516224|PMID:28034695|PMID:28492532|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32238781|PMID:32692933|PMID:33526094|PMID:34132118 11762436 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:1316208 D RGD:9068941 20220825 MouseDO OMIM:265120 | OMIM:300770 | OMIM:610913 | OMIM:610921 | OMIM:614370 11762436 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:1682 congenital heart disease ISO RGD:1316207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 11762436 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:1826 epilepsy ISO RGD:1316207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11762436 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1316207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11762436 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:2871 endometrial carcinoma ISO RGD:1316207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 11762436 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:3082 interstitial lung disease ISO RGD:1316207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease PMID:25741868 11762436 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:3770 pulmonary fibrosis ISO RGD:1316207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26780485 11762436 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:5641 diffuse pulmonary fibrosis ISO RGD:1316207 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diffuse interstitial pulmonary fibrosis PMID:15976379|PMID:17597647|PMID:18246475|PMID:18317237|PMID:18603241|PMID:18676873|PMID:22145626|PMID:22304854|PMID:22434821|PMID:22435821|PMID:22800827|PMID:22866751|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24136335|PMID:24871971|PMID:25073622|PMID:25553246|PMID:25741868|PMID:27374344|PMID:27516224|PMID:28034695|PMID:28492532|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32238781|PMID:32692933|PMID:33526094|PMID:34132118 11762436 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:630 genetic disease ISO RGD:1316207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11762436 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:6432 pulmonary hypertension ISO RGD:1316207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26780485 11762436 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:9000122 Pulmonary Surfactant Metabolism Dysfunction 3 ISO RGD:1316207 D RGD:7240710 20180130 OMIM 11762436 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:9000122 Pulmonary Surfactant Metabolism Dysfunction 3 ISO RGD:1316207 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Interstitial lung disease due to ABCA3 deficiency | ClinVar Annotator: match by term: Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies PMID:15044640|PMID:15976379|PMID:16641205|PMID:16728712|PMID:17517255|PMID:17597647|PMID:17719949|PMID:18024538|PMID:18246475|PMID:18317237|PMID:18492541|PMID:18603241|PMID:18676873|PMID:20371530|PMID:20656946|PMID:21214890|PMID:22068586|PMID:22145626|PMID:22304854|PMID:22337229|PMID:22434821|PMID:22435821|PMID:22455634|PMID:22800827|PMID:22866751|PMID:22995991|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24047351|PMID:24115460|PMID:24136335|PMID:24142515|PMID:24657120|PMID:24871971|PMID:25073622|PMID:25105258|PMID:25113300|PMID:25406294|PMID:25553246|PMID:25692779|PMID:25712598|PMID:25741868|PMID:26467025|PMID:26517903|PMID:26547207|PMID:26928390|PMID:27374344|PMID:27516224|PMID:27670912|PMID:28034695|PMID:28492532|PMID:28642621|PMID:28808495|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32196812|PMID:32238781|PMID:32692933|PMID:33526094|PMID:33526882|PMID:34132118|PMID:7374344 11762436 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:9001026 Pulmonary Surfactant Metabolism Dysfunction 1 ISO RGD:1316207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1 PMID:25741868 11762436 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1316207 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:15976379|PMID:17597647|PMID:18246475|PMID:18317237|PMID:18603241|PMID:18676873|PMID:22145626|PMID:22304854|PMID:22434821|PMID:22435821|PMID:22800827|PMID:22866751|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24136335|PMID:24871971|PMID:25073622|PMID:25553246|PMID:25741868|PMID:27374344|PMID:27516224|PMID:28034695|PMID:28492532|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32238781|PMID:32692933|PMID:33526094|PMID:34132118 11762436 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:9002884 Emphysema ISO RGD:1316207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26780485 11762436 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:9003953 Surfactant Dysfunction ISO RGD:1316207 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pulmonary Surfactant Metabolism Dysfunction, Recessive | ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction PMID:15044640|PMID:15976379|PMID:16641205|PMID:16728712|PMID:16959783|PMID:17429902|PMID:17517255|PMID:17597647|PMID:17660803|PMID:18024538|PMID:18246475|PMID:18317237|PMID:18492541|PMID:18603241|PMID:18676873|PMID:19647838|PMID:20371530|PMID:20656946|PMID:21189475|PMID:21214890|PMID:22068586|PMID:22145626|PMID:22304854|PMID:22337229|PMID:22434821|PMID:22435821|PMID:22455634|PMID:22800827|PMID:22866751|PMID:22995991|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24047351|PMID:24115460|PMID:24136335|PMID:24142515|PMID:24657120|PMID:24871971|PMID:25073622|PMID:25105258|PMID:25113300|PMID:25553246|PMID:25692779|PMID:25712598|PMID:25741868|PMID:26467025|PMID:26517903|PMID:26547207|PMID:26928390|PMID:27374344|PMID:27516224|PMID:28034695|PMID:28492532|PMID:28602350|PMID:28642621|PMID:28808495|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32196812|PMID:32238781|PMID:32692933|PMID:33526094|PMID:33526882|PMID:34132118|PMID:7374344 11762436 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:9006458 Congenital Pulmonary Lymphangiectasia ISO RGD:1316207 D RGD:8554872 20221227 ClinVar ClinVar Annotator: match by term: Pulmonary lymphangiectasia PMID:25741868 11762436 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 11762473 CNTLN centlein gene DOID:13938 amenorrhea ISO RGD:1317678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11762473 CNTLN centlein gene DOID:630 genetic disease ISO RGD:1317678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11762513 EPN1 epsin 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:619772 D RGD:9068941 20200609 RGD protein:increased degradation:brain PMID:19240038|REF_RGD_ID:13461853 11762513 EPN1 epsin 1 gene DOID:630 genetic disease ISO RGD:1342807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11762529 FHL1 four and a half LIM domains 1 gene DOID:0060022 CD40 ligand deficiency ISO RGD:1342641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11762529 FHL1 four and a half LIM domains 1 gene DOID:0060253 scapuloperoneal myopathy ISO RGD:10588 D RGD:9068941 20220825 MouseDO OMIM:181430 | OMIM:300695 11762529 FHL1 four and a half LIM domains 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11762529 FHL1 four and a half LIM domains 1 gene DOID:0060825 Christianson syndrome ISO RGD:1342641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11762529 FHL1 four and a half LIM domains 1 gene DOID:0070251 X-linked Emery-Dreifuss muscular dystrophy 6 ISO RGD:1342641 D RGD:7240710 20180130 OMIM 11762529 FHL1 four and a half LIM domains 1 gene DOID:0070251 X-linked Emery-Dreifuss muscular dystrophy 6 ISO RGD:1342641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 6 | ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy PMID:16199547|PMID:17576681|PMID:18179888|PMID:18179901|PMID:18274675|PMID:19171836|PMID:19181672|PMID:19377476|PMID:19687455|PMID:19716112|PMID:20186852|PMID:20571991|PMID:20633900|PMID:21520333|PMID:21629301|PMID:21683594|PMID:22094483|PMID:22523091|PMID:22923418|PMID:23169582|PMID:23500067|PMID:24114807|PMID:24634512|PMID:25191266|PMID:25246303|PMID:25274776|PMID:25741868|PMID:26265627|PMID:26467025|PMID:26627873|PMID:26857240|PMID:27409453|PMID:27443559|PMID:27532257|PMID:27841901|PMID:28444561|PMID:28492532|PMID:28611399|PMID:28694073|PMID:29434030|PMID:29926425|PMID:31204143|PMID:31273321|PMID:31568572|PMID:31803991|PMID:32001145|PMID:32102154|PMID:32587768|PMID:32815737|PMID:7722535|PMID:9536098 11762529 FHL1 four and a half LIM domains 1 gene DOID:0080090 reducing body myopathy 1A ISO RGD:1342641 D RGD:7240710 20180130 OMIM 11762529 FHL1 four and a half LIM domains 1 gene DOID:0080090 reducing body myopathy 1A ISO RGD:1342641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, reducing body, X-linked, early-onset, severe PMID:18274675|PMID:19171836|PMID:19181672|PMID:19716112|PMID:20633900|PMID:24634512|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7722535 11762529 FHL1 four and a half LIM domains 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1342641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25246303|PMID:26857240|PMID:28492532 11762529 FHL1 four and a half LIM domains 1 gene DOID:0080687 reducing body myopathy 1B ISO RGD:1342641 D RGD:7240710 20180130 OMIM 11762529 FHL1 four and a half LIM domains 1 gene DOID:0080687 reducing body myopathy 1B ISO RGD:1342641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, reducing body, X-linked, childhood-onset PMID:16919903|PMID:18274675|PMID:18952429|PMID:19171836|PMID:20571991|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31273321|PMID:31803991|PMID:32001145 11762529 FHL1 four and a half LIM domains 1 gene DOID:0080687 reducing body myopathy 1B ISO RGD:1342641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, reducing body, X-linked, childhood-onset PMID:16919903|PMID:18274675|PMID:18952429|PMID:19171836|PMID:19716112|PMID:20571991|PMID:21520333|PMID:24634512|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31273321|PMID:31803991|PMID:32001145 11762529 FHL1 four and a half LIM domains 1 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1342641 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28492532 11762529 FHL1 four and a half LIM domains 1 gene DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome ISO RGD:1342641 D RGD:7240710 20200401 OMIM 11762529 FHL1 four and a half LIM domains 1 gene DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome ISO RGD:1342641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Uruguay Faciocardiomusculoskeletal syndrome PMID:11102932|PMID:19716112|PMID:24634512|PMID:25741868|PMID:26467025|PMID:26933038|PMID:28492532 11762529 FHL1 four and a half LIM domains 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1342641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11762529 FHL1 four and a half LIM domains 1 gene DOID:12849 autistic disorder ISO RGD:1342641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11762529 FHL1 four and a half LIM domains 1 gene DOID:630 genetic disease ISO RGD:1342641 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11762529 FHL1 four and a half LIM domains 1 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1342641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11762529 FHL1 four and a half LIM domains 1 gene DOID:9001526 X-Linked Scapuloperoneal Muscular Dystrophy ISO RGD:1342641 D RGD:7240710 20180130 OMIM 11762529 FHL1 four and a half LIM domains 1 gene DOID:9001526 X-Linked Scapuloperoneal Muscular Dystrophy ISO RGD:1342641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scapuloperoneal myopathy, X-linked dominant | ClinVar Annotator: match by term: X-linked scapuloperoneal muscular dystrophy PMID:18179888|PMID:18179901|PMID:19181672|PMID:21629301|PMID:25274776|PMID:25741868|PMID:26467025|PMID:26752647|PMID:28492532|PMID:30260394 11762529 FHL1 four and a half LIM domains 1 gene DOID:9001526 X-Linked Scapuloperoneal Muscular Dystrophy ISO RGD:1342641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Scapuloperoneal myopathy, X-linked dominant | ClinVar Annotator: match by term: X-linked scapuloperoneal muscular dystrophy PMID:18179888|PMID:18179901|PMID:19181672|PMID:19716112|PMID:21629301|PMID:24634512|PMID:25274776|PMID:25741868|PMID:26467025|PMID:26752647|PMID:28492532|PMID:30260394 11762529 FHL1 four and a half LIM domains 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342641 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11762529 FHL1 four and a half LIM domains 1 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1342641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Visceral heterotaxia PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11762529 FHL1 four and a half LIM domains 1 gene DOID:9005532 Muscle Weakness ISO RGD:1342641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868 11762529 FHL1 four and a half LIM domains 1 gene DOID:9775 diastolic heart failure ISO RGD:1342641 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 11762567 NSUN2 NOP2/Sun RNA methyltransferase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1348039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31209396 11762567 NSUN2 NOP2/Sun RNA methyltransferase 2 gene DOID:0081181 autosomal recessive intellectual developmental disorder 5 ISO RGD:1348039 D RGD:7240710 20180130 OMIM 11762567 NSUN2 NOP2/Sun RNA methyltransferase 2 gene DOID:0081181 autosomal recessive intellectual developmental disorder 5 ISO RGD:1348039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 5 PMID:17120046|PMID:17576681|PMID:18414213|PMID:21063731|PMID:22541559|PMID:22541562|PMID:22577224|PMID:25741868|PMID:28492532|PMID:32860008|PMID:33098347|PMID:9536098 11762567 NSUN2 NOP2/Sun RNA methyltransferase 2 gene DOID:1059 intellectual disability ISO RGD:1348039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25741868|PMID:28492532|PMID:33098347 11762567 NSUN2 NOP2/Sun RNA methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1348039 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17120046|PMID:18414213|PMID:22541559|PMID:25741868|PMID:28492532|PMID:33098347 11762567 NSUN2 NOP2/Sun RNA methyltransferase 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1348039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11762591 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:10603 glucose intolerance ISO RGD:1351216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27381457 11762591 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:3021 acute kidney failure ISO RGD:1351216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21745194 11762591 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1351216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363678 11762591 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:6000 congestive heart failure ISO RGD:1351216 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:left ventricle myocardium (human) PMID:18323524|REF_RGD_ID:9835356 11762591 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:630 genetic disease ISO RGD:1351216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11762591 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1351216 D RGD:9068941 20200609 RGD DNA:snps:introns: (rs2072115), (rs2074533) (human) PMID:15274052|REF_RGD_ID:9835361 11762591 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:9002056 Arterial Injury ISO RGD:621869 D RGD:9068941 20200609 RGD mRNA:increased expression:femoral artery (rat) PMID:18689492|REF_RGD_ID:9835375 11762591 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:9002098 Tick-Borne Diseases ISO RGD:1351216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24218580 11762591 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:9003936 Cardiomegaly ISO RGD:621869 D RGD:9068941 20200609 RGD protein:increased expression:left ventricle myocardium (rat) PMID:18323524|REF_RGD_ID:9835356 11762591 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:9003936 Cardiomegaly susceptibility ISO RGD:732974 D RGD:9068941 20200609 RGD PMID:25411381|REF_RGD_ID:9850089 11762591 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:9004283 Transplant Rejection treatment ISO RGD:621869 D RGD:9068941 20200609 RGD PMID:18178058|REF_RGD_ID:9835362 11762591 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1351216 D RGD:9068941 20200609 RGD protein:altered expression:thyroid gland (human) PMID:25372777|REF_RGD_ID:9835389 11762591 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:732974 D RGD:9068941 20200609 RGD protein:increased expression:heart (mouse) PMID:24721545|REF_RGD_ID:9835365 11762591 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:9007347 Rickettsia Infections ISO RGD:1351216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24218580 11762591 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:9007730 Burns treatment ISO RGD:621869 D RGD:9068941 20200609 RGD PMID:24973766|REF_RGD_ID:9850087 11762591 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:9120 amyloidosis ISO RGD:732974 D RGD:9068941 20200609 RGD protein:increased expression:heart (mouse) PMID:24721545|REF_RGD_ID:9835365 11762591 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:9970 obesity ISO RGD:1351216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 11762647 BCL2L1 BCL2 like 1 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:735516 D RGD:9068941 20200609 RGD protein:increased expression:colonic mucosa (human) PMID:8625322|REF_RGD_ID:11353854 11762647 BCL2L1 BCL2 like 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:735516 D RGD:9068941 20220826 RGD mRNA, protein:increased expression:mouth (human) PMID:34111459|REF_RGD_ID:153344573 11762647 BCL2L1 BCL2 like 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 11762647 BCL2L1 BCL2 like 1 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma severity ISO RGD:1552009 D RGD:9068941 20200609 RGD PMID:18216295|REF_RGD_ID:11531108 11762647 BCL2L1 BCL2 like 1 gene DOID:10286 prostate carcinoma ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:17653717|REF_RGD_ID:1643474 11762647 BCL2L1 BCL2 like 1 gene DOID:1037 lymphoid leukemia ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:21998213|REF_RGD_ID:11353857 11762647 BCL2L1 BCL2 like 1 gene DOID:10534 stomach cancer ameliorates ISO RGD:735516 D RGD:9068941 20211029 RGD human cells in mouse model PMID:26432329|REF_RGD_ID:150520156 11762647 BCL2L1 BCL2 like 1 gene DOID:10652 Alzheimer's disease ISO RGD:735516 D RGD:9068941 20200609 RGD protein:increased expression:temporal cortex, membrane PMID:9507158|REF_RGD_ID:10053642 11762647 BCL2L1 BCL2 like 1 gene DOID:10808 gastric ulcer treatment ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:24378970|REF_RGD_ID:10053695 11762647 BCL2L1 BCL2 like 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:18342927|REF_RGD_ID:2292910 11762647 BCL2L1 BCL2 like 1 gene DOID:11383 cryptorchidism ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26050606 11762647 BCL2L1 BCL2 like 1 gene DOID:127 leiomyoma ISO RGD:735516 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell;protein:increased expression:myometrium PMID:16962107|REF_RGD_ID:1643479 11762647 BCL2L1 BCL2 like 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:26004897|REF_RGD_ID:13782348 11762647 BCL2L1 BCL2 like 1 gene DOID:1380 endometrial cancer ISO RGD:735516 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:17311011|REF_RGD_ID:1643476 11762647 BCL2L1 BCL2 like 1 gene DOID:13955 uterus interstitial leiomyoma ISO RGD:735516 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell;protein:increased expression:uterus PMID:16962107|REF_RGD_ID:1643479 11762647 BCL2L1 BCL2 like 1 gene DOID:1596 depressive disorder treatment ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:21308783|REF_RGD_ID:10054142 11762647 BCL2L1 BCL2 like 1 gene DOID:1612 breast cancer ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:16850344|REF_RGD_ID:1643481 11762647 BCL2L1 BCL2 like 1 gene DOID:1793 pancreatic cancer ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16904634 11762647 BCL2L1 BCL2 like 1 gene DOID:1793 pancreatic cancer severity ISO RGD:735516 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:17941720|REF_RGD_ID:11353794 11762647 BCL2L1 BCL2 like 1 gene DOID:1824 status epilepticus ISO RGD:2200 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus (rat) PMID:24051278|REF_RGD_ID:11352818 11762647 BCL2L1 BCL2 like 1 gene DOID:1875 impotence ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:12394778|REF_RGD_ID:1579980 11762647 BCL2L1 BCL2 like 1 gene DOID:1875 impotence ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12394778 11762647 BCL2L1 BCL2 like 1 gene DOID:1909 melanoma disease_progression ISO RGD:735516 D RGD:9068941 20200609 RGD protein:increased expression:skin, subcutaneous tissue (human) PMID:17384650|REF_RGD_ID:11353861 11762647 BCL2L1 BCL2 like 1 gene DOID:2154 nephroblastoma disease_progression ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:15717629|REF_RGD_ID:1643482 11762647 BCL2L1 BCL2 like 1 gene DOID:2316 brain ischemia ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:22843461|REF_RGD_ID:10053716 11762647 BCL2L1 BCL2 like 1 gene DOID:2316 brain ischemia ISO RGD:2200 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:17706879|REF_RGD_ID:1643491 11762647 BCL2L1 BCL2 like 1 gene DOID:2671 transitional cell carcinoma ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:18047955|REF_RGD_ID:1643477 11762647 BCL2L1 BCL2 like 1 gene DOID:289 endometriosis treatment ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:25937801|REF_RGD_ID:11353846 11762647 BCL2L1 BCL2 like 1 gene DOID:3021 acute kidney failure ISO RGD:2200 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:20037173|REF_RGD_ID:10053672 11762647 BCL2L1 BCL2 like 1 gene DOID:305 carcinoma ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10426811 11762647 BCL2L1 BCL2 like 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735516 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood, neutrophil (human) PMID:22686245|REF_RGD_ID:11353864 11762647 BCL2L1 BCL2 like 1 gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:1552009 D RGD:9068941 20200609 RGD PMID:10582606|REF_RGD_ID:13506907 11762647 BCL2L1 BCL2 like 1 gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:18543336|REF_RGD_ID:13506902 11762647 BCL2L1 BCL2 like 1 gene DOID:3459 breast carcinoma ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:16886624|REF_RGD_ID:1643480 11762647 BCL2L1 BCL2 like 1 gene DOID:3602 toxic encephalopathy ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11762647 BCL2L1 BCL2 like 1 gene DOID:409 liver disease ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11762647 BCL2L1 BCL2 like 1 gene DOID:4362 cervical cancer ISO RGD:735516 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17311011|REF_RGD_ID:1643476 11762647 BCL2L1 BCL2 like 1 gene DOID:4450 renal cell carcinoma ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:12025227|REF_RGD_ID:1643483 11762647 BCL2L1 BCL2 like 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11762647 BCL2L1 BCL2 like 1 gene DOID:5844 myocardial infarction ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:17467744|REF_RGD_ID:1643494 11762647 BCL2L1 BCL2 like 1 gene DOID:5844 myocardial infarction ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20079142 11762647 BCL2L1 BCL2 like 1 gene DOID:630 genetic disease ISO RGD:735516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11762647 BCL2L1 BCL2 like 1 gene DOID:6432 pulmonary hypertension treatment ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:22559233|REF_RGD_ID:10400914 11762647 BCL2L1 BCL2 like 1 gene DOID:6536 plasma cell neoplasm severity ISO RGD:1552009 D RGD:9068941 20200609 RGD PMID:15725478|REF_RGD_ID:11353872 11762647 BCL2L1 BCL2 like 1 gene DOID:657 adenoma ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10426811 11762647 BCL2L1 BCL2 like 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1552009 D RGD:9068941 20210702 RGD mRNA:increased expression:liver (mouse) PMID:28100771|REF_RGD_ID:127285675 11762647 BCL2L1 BCL2 like 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10629087|PMID:11509945 11762647 BCL2L1 BCL2 like 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2200 D RGD:9068941 20220714 RGD PMID:33841550|REF_RGD_ID:152998960 11762647 BCL2L1 BCL2 like 1 gene DOID:74 hematopoietic system disease severity ISO RGD:735516 D RGD:9068941 20200609 RGD protein:altered expression:mononuclear cell of bone marrow (human) PMID:12111784|REF_RGD_ID:11353871 11762647 BCL2L1 BCL2 like 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:20728382|REF_RGD_ID:11353850 11762647 BCL2L1 BCL2 like 1 gene DOID:8997 polycythemia vera ISO RGD:735516 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow, erythroid cell (human) PMID:9475763|REF_RGD_ID:11353849 11762647 BCL2L1 BCL2 like 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26401016 11762647 BCL2L1 BCL2 like 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1552009 D RGD:9068941 20200609 RGD PMID:22414765|REF_RGD_ID:11353865 11762647 BCL2L1 BCL2 like 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10426811|PMID:28100771 11762647 BCL2L1 BCL2 like 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:2200 D RGD:9068941 20200609 RGD protein:increased expression:liver, mitochondrion PMID:17224795|REF_RGD_ID:1643525 11762647 BCL2L1 BCL2 like 1 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:23056591|REF_RGD_ID:10053711 11762647 BCL2L1 BCL2 like 1 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2200 D RGD:9068941 20200609 RGD associated with Non-alcoholic Fatty Liver Disease PMID:22847887|REF_RGD_ID:10053710 11762647 BCL2L1 BCL2 like 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12721362 11762647 BCL2L1 BCL2 like 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:17675586|REF_RGD_ID:1643478 11762647 BCL2L1 BCL2 like 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:24195677|REF_RGD_ID:10053669 11762647 BCL2L1 BCL2 like 1 gene DOID:9004538 Hearing Loss ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17697574 11762647 BCL2L1 BCL2 like 1 gene DOID:9005172 Lung Neoplasms ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16007126 11762647 BCL2L1 BCL2 like 1 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:23404339|REF_RGD_ID:10053670 11762647 BCL2L1 BCL2 like 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2200 D RGD:9068941 20200609 RGD protein:decreased expression, altered activity:testis PMID:17870134|REF_RGD_ID:2292685 11762647 BCL2L1 BCL2 like 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16959961 11762647 BCL2L1 BCL2 like 1 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18566236 11762647 BCL2L1 BCL2 like 1 gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:735516 D RGD:9068941 20201218 RGD protein:increased expression:natural killer cell,t cell (human) PMID:26541527|REF_RGD_ID:40902860 11762647 BCL2L1 BCL2 like 1 gene DOID:9007096 Stroke ISO RGD:1552009 D RGD:9068941 20200609 RGD protein:altered localization:cerebral cortex (mouse) PMID:17301160|REF_RGD_ID:11353792 11762647 BCL2L1 BCL2 like 1 gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:2200 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, mitochondrion (rat) PMID:19331832|REF_RGD_ID:11353791 11762647 BCL2L1 BCL2 like 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:12668130|REF_RGD_ID:11035287 11762647 BCL2L1 BCL2 like 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:17675586|REF_RGD_ID:1643478 11762647 BCL2L1 BCL2 like 1 gene DOID:9119 acute myeloid leukemia severity ISO RGD:735516 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood, bone marrow, blast cell (human) PMID:11410409|REF_RGD_ID:11353851 11762647 BCL2L1 BCL2 like 1 gene DOID:9282 ocular hypertension ISO RGD:2200 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:17640403|REF_RGD_ID:1643493 11762647 BCL2L1 BCL2 like 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16959961 11762647 BCL2L1 BCL2 like 1 gene DOID:9538 multiple myeloma ISO RGD:1552009 D RGD:9068941 20200609 RGD PMID:14656874|REF_RGD_ID:11353847 11762647 BCL2L1 BCL2 like 1 gene DOID:9538 multiple myeloma ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12429644 11762647 BCL2L1 BCL2 like 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:735516 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, mononuclear cell (human) PMID:19020783|REF_RGD_ID:11353866 11762647 BCL2L1 BCL2 like 1 gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:12469194|REF_RGD_ID:11353852 11762673 C1H1orf162 chromosome 1 C1orf162 homolog gene DOID:0080600 COVID-19 ISO RGD:1604535 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11762673 C1H1orf162 chromosome 1 C1orf162 homolog gene DOID:630 genetic disease ISO RGD:1604535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11762691 CD27 CD27 molecule gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1353701 D RGD:7240710 20180130 OMIM 11762691 CD27 CD27 molecule gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1353701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:17576681|PMID:22197273|PMID:22801960|PMID:24033266|PMID:25640679|PMID:25741868|PMID:25843314|PMID:28492532|PMID:32499645|PMID:9536098 11762691 CD27 CD27 molecule gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1353701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11762691 CD27 CD27 molecule gene DOID:0111621 Temtamy syndrome ISO RGD:1353701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11762691 CD27 CD27 molecule gene DOID:0111962 combined immunodeficiency ISO RGD:1353701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:25741868|PMID:25843314|PMID:28492532|PMID:32499645 11762691 CD27 CD27 molecule gene DOID:12930 dilated cardiomyopathy ISO RGD:1353701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 11762691 CD27 CD27 molecule gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1353701 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:25741868|PMID:28492532 11762691 CD27 CD27 molecule gene DOID:628 combined T cell and B cell immunodeficiency ISO RGD:1353701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined T and B cell immunodeficiency PMID:25741868|PMID:25843314|PMID:28492532|PMID:32499645 11762691 CD27 CD27 molecule gene DOID:630 genetic disease ISO RGD:1353701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11762691 CD27 CD27 molecule gene DOID:820 myocarditis ISO RGD:1353701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 11762691 CD27 CD27 molecule gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:1560499 D RGD:9068941 20200609 RGD PMID:16698589|REF_RGD_ID:1581860 11762691 CD27 CD27 molecule gene DOID:9007346 Cachexia ISO RGD:1353701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17878525 11762691 CD27 CD27 molecule gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1353701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11762691 CD27 CD27 molecule gene DOID:934 viral infectious disease ISO RGD:1353701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 11762706 FRZB frizzled related protein gene DOID:3907 lung squamous cell carcinoma ISO RGD:1322704 D RGD:9068941 20200702 RGD protein:decreased expression:lung (human) PMID:27623992|REF_RGD_ID:32716395 11762706 FRZB frizzled related protein gene DOID:3908 lung non-small cell carcinoma ISO RGD:1322704 D RGD:9068941 20200702 RGD DNA:hypermethylation:exon 1 PMID:27623992|REF_RGD_ID:32716395 11762706 FRZB frizzled related protein gene DOID:3910 lung adenocarcinoma severity ISO RGD:1322704 D RGD:9068941 20200702 RGD mRNA:decreased expression:lung (human) PMID:27623992|REF_RGD_ID:32716395 11762706 FRZB frizzled related protein gene DOID:630 genetic disease ISO RGD:1322704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11762706 FRZB frizzled related protein gene DOID:8398 osteoarthritis ISO RGD:1322704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteoarthritis PMID:15210948|PMID:25741868 11762706 FRZB frizzled related protein gene DOID:8398 osteoarthritis susceptibility ISO RGD:1322704 D RGD:7240710 20190502 OMIM 11762706 FRZB frizzled related protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:1322704 D RGD:9068941 20200702 RGD protein, decreased expression:skeletal muscle, serum (human) PMID:28240822|REF_RGD_ID:32716394 11762720 EXPH5 exophilin 5 gene DOID:1059 intellectual disability ISO RGD:1604627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11762720 EXPH5 exophilin 5 gene DOID:12704 ataxia telangiectasia ISO RGD:1604627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11762720 EXPH5 exophilin 5 gene DOID:14723 beta-ketothiolase deficiency ISO RGD:1604627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:28492532 11762720 EXPH5 exophilin 5 gene DOID:2730 epidermolysis bullosa ISO RGD:1604627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11762720 EXPH5 exophilin 5 gene DOID:630 genetic disease ISO RGD:1604627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11762720 EXPH5 exophilin 5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11762720 EXPH5 exophilin 5 gene DOID:9008927 Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, Autosomal Recessive ISO RGD:1604627 D RGD:7240710 20180130 OMIM 11762720 EXPH5 exophilin 5 gene DOID:9008927 Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, Autosomal Recessive ISO RGD:1604627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive PMID:23176819|PMID:24005056|PMID:24443915|PMID:25741868|PMID:26211931|PMID:27384765|PMID:27730671|PMID:28492532|PMID:28830826|PMID:30016581|PMID:32176379 11762741 BAZ1B bromodomain adjacent to zinc finger domain 1B gene DOID:0060041 autism spectrum disorder ISO RGD:1314248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 11762741 BAZ1B bromodomain adjacent to zinc finger domain 1B gene DOID:10923 sickle cell anemia ISO RGD:1314248 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 11762741 BAZ1B bromodomain adjacent to zinc finger domain 1B gene DOID:12849 autistic disorder ISO RGD:1314248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11762741 BAZ1B bromodomain adjacent to zinc finger domain 1B gene DOID:1928 Williams-Beuren syndrome ISO RGD:1314248 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 11762741 BAZ1B bromodomain adjacent to zinc finger domain 1B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11762741 BAZ1B bromodomain adjacent to zinc finger domain 1B gene DOID:5419 schizophrenia ISO RGD:1314248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11762741 BAZ1B bromodomain adjacent to zinc finger domain 1B gene DOID:630 genetic disease ISO RGD:1314248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11762741 BAZ1B bromodomain adjacent to zinc finger domain 1B gene DOID:8445 intestinal volvulus ISO RGD:1314248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11762741 BAZ1B bromodomain adjacent to zinc finger domain 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11762741 BAZ1B bromodomain adjacent to zinc finger domain 1B gene DOID:9008419 Volvulus Of Midgut ISO RGD:1314248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11762770 STK4 serine/threonine kinase 4 gene DOID:2234 focal epilepsy ISO RGD:1323808 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11762770 STK4 serine/threonine kinase 4 gene DOID:3312 bipolar disorder ISO RGD:1323808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 11762770 STK4 serine/threonine kinase 4 gene DOID:612 primary immunodeficiency disease ISO RGD:1323808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:22174160|PMID:25741868|PMID:28492532 11762770 STK4 serine/threonine kinase 4 gene DOID:627 severe combined immunodeficiency ISO RGD:1323808 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 11762770 STK4 serine/threonine kinase 4 gene DOID:630 genetic disease ISO RGD:1323808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11762770 STK4 serine/threonine kinase 4 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1323808 D RGD:7240710 20180130 OMIM 11762770 STK4 serine/threonine kinase 4 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1323808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MST1 DEFICIENCY | ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:16199547|PMID:17576681|PMID:22174160|PMID:22294732|PMID:25741868|PMID:26801501|PMID:28492532|PMID:9536098 11762785 C8H8orf76 chromosome 8 C8orf76 homolog gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1602854 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11762785 C8H8orf76 chromosome 8 C8orf76 homolog gene DOID:630 genetic disease ISO RGD:1602854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11762795 C10H10orf105 chromosome 10 C10orf105 homolog gene DOID:0050439 Usher syndrome ISO RGD:1346064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:12075507|PMID:15537665|PMID:18273900|PMID:21228398|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 11762795 C10H10orf105 chromosome 10 C10orf105 homolog gene DOID:0050439 Usher syndrome ISO RGD:1346064 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:11138009|PMID:12075507|PMID:12522556|PMID:15537665|PMID:15660226|PMID:18273900|PMID:18429043|PMID:19683999|PMID:20146813|PMID:21228398|PMID:21569298|PMID:24033266|PMID:24875298|PMID:25468891|PMID:25741868|PMID:26467025|PMID:28492532 11762795 C10H10orf105 chromosome 10 C10orf105 homolog gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1346064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:11090341|PMID:11138009|PMID:16679490|PMID:21940737|PMID:25741868|PMID:28492532|PMID:30303587 11762795 C10H10orf105 chromosome 10 C10orf105 homolog gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:1346064 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:11138009|PMID:12075507|PMID:12522556|PMID:15537665|PMID:15660226|PMID:16199547|PMID:16679490|PMID:17850630|PMID:18273900|PMID:18429043|PMID:19683999|PMID:20146813|PMID:21228398|PMID:21569298|PMID:21940737|PMID:22135276|PMID:22899989|PMID:24033266|PMID:24875298|PMID:25468891|PMID:25741868|PMID:26467025|PMID:27610647|PMID:28492532|PMID:28847902|PMID:30303587|PMID:31445392 11762795 C10H10orf105 chromosome 10 C10orf105 homolog gene DOID:0110826 Usher syndrome type 1 ISO RGD:1346064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:11090341|PMID:11138009|PMID:12075507|PMID:12522556|PMID:15537665|PMID:15660226|PMID:16199547|PMID:17576681|PMID:18273900|PMID:18429043|PMID:19683999|PMID:20146813|PMID:20613545|PMID:21228398|PMID:21569298|PMID:21940737|PMID:22135276|PMID:24033266|PMID:24875298|PMID:25468891|PMID:25741868|PMID:26467025|PMID:27460420|PMID:28492532|PMID:30311386|PMID:9536098 11762795 C10H10orf105 chromosome 10 C10orf105 homolog gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:1346064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome PMID:24033266|PMID:25741868|PMID:28492532 11762795 C10H10orf105 chromosome 10 C10orf105 homolog gene DOID:0110831 Usher syndrome type 1D ISO RGD:1346064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D PMID:11090341|PMID:11138009|PMID:12075507|PMID:15537665|PMID:15660226|PMID:17850630|PMID:18273900|PMID:18429043|PMID:20146813|PMID:20613545|PMID:21228398|PMID:21569298|PMID:21940737|PMID:22135276|PMID:22899989|PMID:24033266|PMID:24875298|PMID:25468891|PMID:25741868|PMID:25991456|PMID:26467025|PMID:27610647|PMID:28492532|PMID:28847902|PMID:30303587|PMID:30311386|PMID:31445392 11762795 C10H10orf105 chromosome 10 C10orf105 homolog gene DOID:0112008 pituitary adenoma 5 ISO RGD:1346064 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types PMID:12075507|PMID:15537665|PMID:18273900|PMID:21228398|PMID:24033266|PMID:24875298|PMID:25468891|PMID:25741868|PMID:26467025|PMID:28413019|PMID:28492532 11762795 C10H10orf105 chromosome 10 C10orf105 homolog gene DOID:630 genetic disease ISO RGD:1346064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11090341|PMID:11138009|PMID:20613545|PMID:21940737|PMID:25741868|PMID:28492532 11762795 C10H10orf105 chromosome 10 C10orf105 homolog gene DOID:8501 fundus dystrophy ISO RGD:1346064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24033266|PMID:28492532 11762795 C10H10orf105 chromosome 10 C10orf105 homolog gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1346064 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:11138009|PMID:12075507|PMID:12522556|PMID:15537665|PMID:15660226|PMID:18273900|PMID:18429043|PMID:19683999|PMID:20146813|PMID:21228398|PMID:21569298|PMID:24033266|PMID:24875298|PMID:25468891|PMID:25741868|PMID:26467025|PMID:28492532 11762795 C10H10orf105 chromosome 10 C10orf105 homolog gene DOID:9004538 Hearing Loss ISO RGD:1346064 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:25741868|PMID:28492532|PMID:30311386 11762795 C10H10orf105 chromosome 10 C10orf105 homolog gene DOID:9849 Meniere's disease ISO RGD:1346064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:18429043|PMID:24033266|PMID:25741868|PMID:28492532 11762801 POMK protein O-mannose kinase gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1602085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11762801 POMK protein O-mannose kinase gene DOID:0090039 torsion dystonia 6 ISO RGD:1602085 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 11762801 POMK protein O-mannose kinase gene DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 ISO RGD:1602085 D RGD:7240710 20180130 OMIM 11762801 POMK protein O-mannose kinase gene DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 ISO RGD:1602085 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 PMID:17576681|PMID:23519211|PMID:24556084|PMID:24925318|PMID:25741868|PMID:27879205|PMID:28492532|PMID:29910097|PMID:30060766|PMID:32907597|PMID:9536098 11762801 POMK protein O-mannose kinase gene DOID:0111393 mucopolysaccharidosis type IIIC ISO RGD:1602085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C PMID:17033958|PMID:19479962|PMID:28492532 11762801 POMK protein O-mannose kinase gene DOID:0111959 immunodeficiency 15B ISO RGD:1602085 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 11762801 POMK protein O-mannose kinase gene DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 ISO RGD:1602085 D RGD:7240710 20180130 OMIM 11762801 POMK protein O-mannose kinase gene DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 ISO RGD:1602085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy due to POMK deficiency PMID:24556084|PMID:24925318|PMID:25741868|PMID:28492532|PMID:29910097 11762801 POMK protein O-mannose kinase gene DOID:10908 hydrocephalus ISO RGD:1321928 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 11762801 POMK protein O-mannose kinase gene DOID:630 genetic disease ISO RGD:1602085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11762801 POMK protein O-mannose kinase gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1602085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 11762811 TRIM26 tripartite motif containing 26 gene DOID:11372 megacolon ISO RGD:1346405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11762811 TRIM26 tripartite motif containing 26 gene DOID:630 genetic disease ISO RGD:1346405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11762837 FCMR Fc mu receptor gene DOID:0050589 inflammatory bowel disease ISO RGD:1603318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 11762837 FCMR Fc mu receptor gene DOID:0080600 COVID-19 ISO RGD:1603318 D RGD:9068941 20200709 RGD mRNA:decreased expression:memory B cells (human) PMID:32377375|REF_RGD_ID:32716422 11762837 FCMR Fc mu receptor gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1603318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 11762837 FCMR Fc mu receptor gene DOID:12849 autistic disorder ISO RGD:1603318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11762837 FCMR Fc mu receptor gene DOID:1540 parathyroid carcinoma ISO RGD:1603318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11762837 FCMR Fc mu receptor gene DOID:630 genetic disease ISO RGD:1603318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11762837 FCMR Fc mu receptor gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1603318 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11762837 FCMR Fc mu receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11762837 FCMR Fc mu receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11762860 BBS2 Bardet-Biedl syndrome 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:732435 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11762860 BBS2 Bardet-Biedl syndrome 2 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:732435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:12524598|PMID:22025579|PMID:24349080|PMID:24793135|PMID:25741868|PMID:26467025|PMID:28492532 11762860 BBS2 Bardet-Biedl syndrome 2 gene DOID:0110124 Bardet-Biedl syndrome 2 ISO RGD:732435 D RGD:7240710 20180130 OMIM 11762860 BBS2 Bardet-Biedl syndrome 2 gene DOID:0110124 Bardet-Biedl syndrome 2 ISO RGD:732435 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 2 PMID:11285252|PMID:11567139|PMID:12016587|PMID:12524598|PMID:12677556|PMID:12837689|PMID:12920096|PMID:14520415|PMID:15666242|PMID:15770229|PMID:16199547|PMID:16582908|PMID:16823392|PMID:16877420|PMID:16909204|PMID:17576681|PMID:19402160|PMID:19797195|PMID:20120035|PMID:20177705|PMID:20498079|PMID:20618352|PMID:21044901|PMID:21052717|PMID:21157496|PMID:21344540|PMID:21463199|PMID:21642631|PMID:22025579|PMID:22353939|PMID:22401627|PMID:22410627|PMID:22773737|PMID:22981120|PMID:23432027|PMID:23829372|PMID:24033266|PMID:24154662|PMID:24280758|PMID:24349080|PMID:24608809|PMID:24793135|PMID:25133751|PMID:25412400|PMID:25525159|PMID:25533962|PMID:25541840|PMID:25611614|PMID:25741868|PMID:25988237|PMID:25999675|PMID:26078953|PMID:26325687|PMID:26355662|PMID:26467025|PMID:26518167|PMID:27032803|PMID:27058611|PMID:27353947|PMID:27659767|PMID:27708425|PMID:27894351|PMID:28005958|PMID:28143435|PMID:28374938|PMID:28387813|PMID:28418496|PMID:28492532|PMID:28559085|PMID:28717663|PMID:28800606|PMID:29588463|PMID:30029678|PMID:30293640|PMID:30718709|PMID:30902645|PMID:31054281|PMID:31283077|PMID:31429209|PMID:31456290|PMID:31530639|PMID:31960602|PMID:32349990|PMID:32436246|PMID:33138063|PMID:33226606|PMID:33520300|PMID:33777945|PMID:33921607|PMID:34008892|PMID:8298649|PMID:9536098 11762860 BBS2 Bardet-Biedl syndrome 2 gene DOID:0110401 retinitis pigmentosa 74 ISO RGD:732435 D RGD:7240710 20180130 OMIM 11762860 BBS2 Bardet-Biedl syndrome 2 gene DOID:0110401 retinitis pigmentosa 74 ISO RGD:732435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 74 PMID:11285252|PMID:11567139|PMID:12837689|PMID:19402160|PMID:20177705|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21642631|PMID:22401627|PMID:22410627|PMID:23829372|PMID:24608809|PMID:25133751|PMID:25412400|PMID:25541840|PMID:25741868|PMID:25988237|PMID:25999675|PMID:26467025|PMID:26518167|PMID:27659767|PMID:28143435|PMID:28492532|PMID:28559085|PMID:31054281|PMID:31530639|PMID:34008892 11762860 BBS2 Bardet-Biedl syndrome 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:732435 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11762860 BBS2 Bardet-Biedl syndrome 2 gene DOID:10584 retinitis pigmentosa ISO RGD:732435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11285252|PMID:11567139|PMID:17576681|PMID:19402160|PMID:20120035|PMID:20177705|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21642631|PMID:22401627|PMID:22410627|PMID:23829372|PMID:24033266|PMID:24608809|PMID:25133751|PMID:25412400|PMID:25541840|PMID:25741868|PMID:26355662|PMID:26518167|PMID:27659767|PMID:27894351|PMID:28492532|PMID:28559085|PMID:30718709|PMID:31530639|PMID:32037395|PMID:33777945|PMID:33921607|PMID:34008892|PMID:9536098 11762860 BBS2 Bardet-Biedl syndrome 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732435 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:11567139|PMID:11886943|PMID:12016587|PMID:12524598|PMID:12677556|PMID:12837689|PMID:12920096|PMID:14520415|PMID:15666242|PMID:15770229|PMID:16199547|PMID:16877420|PMID:16909204|PMID:17576681|PMID:19402160|PMID:19797195|PMID:20120035|PMID:20177705|PMID:20498079|PMID:20618352|PMID:21044901|PMID:21052717|PMID:21157496|PMID:21344540|PMID:21463199|PMID:21642631|PMID:22025579|PMID:22353939|PMID:22401627|PMID:22410627|PMID:22773737|PMID:22981120|PMID:23432027|PMID:23829372|PMID:24033266|PMID:24154662|PMID:24280758|PMID:24349080|PMID:24608809|PMID:24793135|PMID:24849935|PMID:25133751|PMID:25170860|PMID:25412400|PMID:25525159|PMID:25533962|PMID:25541840|PMID:25611614|PMID:25741868|PMID:25988237|PMID:25999675|PMID:26078953|PMID:26325687|PMID:26355662|PMID:26467025|PMID:26518167|PMID:27032803|PMID:27058611|PMID:27353947|PMID:27659767|PMID:27708425|PMID:27894351|PMID:28005958|PMID:28143435|PMID:28374938|PMID:28387813|PMID:28418496|PMID:28492532|PMID:28559085|PMID:28717663|PMID:28747448|PMID:28800606|PMID:29588463|PMID:30029678|PMID:30293640|PMID:30614526|PMID:30718709|PMID:30866059|PMID:30902645|PMID:31054281|PMID:31196119|PMID:31283077|PMID:31429209|PMID:31456290|PMID:31530639|PMID:31630094|PMID:31960602|PMID:32037395|PMID:32349990|PMID:32436246|PMID:33138063|PMID:33226606|PMID:33520300|PMID:33777945|PMID:33781268|PMID:33921607|PMID:34008892|PMID:8298649|PMID:9536098 11762860 BBS2 Bardet-Biedl syndrome 2 gene DOID:630 genetic disease ISO RGD:732435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11285252|PMID:11567139|PMID:17576681|PMID:19402160|PMID:20120035|PMID:20177705|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21642631|PMID:22401627|PMID:22410627|PMID:23829372|PMID:24033266|PMID:24608809|PMID:25133751|PMID:25412400|PMID:25541840|PMID:25741868|PMID:25988237|PMID:25999675|PMID:26518167|PMID:27659767|PMID:28492532|PMID:28559085|PMID:30718709|PMID:31530639|PMID:9536098 11762860 BBS2 Bardet-Biedl syndrome 2 gene DOID:8501 fundus dystrophy ISO RGD:732435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11285252|PMID:11567139|PMID:12837689|PMID:15666242|PMID:16199547|PMID:19402160|PMID:20120035|PMID:20177705|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21463199|PMID:21642631|PMID:22401627|PMID:22410627|PMID:23829372|PMID:24280758|PMID:24608809|PMID:25133751|PMID:25412400|PMID:25541840|PMID:25741868|PMID:26518167|PMID:27353947|PMID:27659767|PMID:28492532|PMID:28559085|PMID:30029678|PMID:30718709|PMID:31530639|PMID:33520300|PMID:33777945 11762860 BBS2 Bardet-Biedl syndrome 2 gene DOID:9000726 Bardet-Biedl Syndrome 2/6, Digenic ISO RGD:732435 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Bardet-biedl syndrome 2/6, digenic PMID:11285252|PMID:11567139|PMID:15666242|PMID:20120035|PMID:20177705|PMID:20498079|PMID:21344540|PMID:24608809|PMID:25741868|PMID:26518167|PMID:28492532|PMID:30718709 11762860 BBS2 Bardet-Biedl syndrome 2 gene DOID:9001876 Bardet-Biedl Syndrome 2/4, Digenic ISO RGD:732435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-biedl syndrome 2/4, digenic PMID:11567139|PMID:20498079|PMID:26355662|PMID:27894351|PMID:28492532|PMID:33777945|PMID:33921607 11762860 BBS2 Bardet-Biedl syndrome 2 gene DOID:9003383 Bardet-Biedl Syndrome 1/2, Digenic ISO RGD:732435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-biedl syndrome 1/2, digenic PMID:11285252|PMID:11567139|PMID:19402160|PMID:20177705|PMID:20498079|PMID:21344540|PMID:21642631|PMID:22410627|PMID:23829372|PMID:24608809|PMID:25541840|PMID:25741868|PMID:26518167|PMID:28492532 11762860 BBS2 Bardet-Biedl syndrome 2 gene DOID:9970 obesity susceptibility ISO RGD:732435 D RGD:9068941 20200609 RGD DNA:SNPs PMID:17003356|REF_RGD_ID:1601311 11762881 TMEM163 transmembrane protein 163 gene DOID:576 proteinuria ISO RGD:1306212 D RGD:9068941 20200609 RGD PMID:21257920|REF_RGD_ID:12798539 11762881 TMEM163 transmembrane protein 163 gene DOID:630 genetic disease ISO RGD:1604280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11762881 TMEM163 transmembrane protein 163 gene DOID:9001632 Hypomyelinating Leukodystrophy 25 ISO RGD:1604280 D RGD:7240710 20230505 OMIM 11762881 TMEM163 transmembrane protein 163 gene DOID:9001632 Hypomyelinating Leukodystrophy 25 ISO RGD:1604280 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 25 PMID:35455965|PMID:35953447 11762893 TRAPPC2L trafficking protein particle complex subunit 2L gene DOID:0050716 methylmalonic aciduria and homocystinuria type cblD ISO RGD:1604619 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD PMID:25741868 11762893 TRAPPC2L trafficking protein particle complex subunit 2L gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1604619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 11762893 TRAPPC2L trafficking protein particle complex subunit 2L gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1604619 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11762893 TRAPPC2L trafficking protein particle complex subunit 2L gene DOID:0111391 mucopolysaccharidosis IVA ISO RGD:1604619 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A PMID:10479485|PMID:12442278|PMID:12955720|PMID:15241807|PMID:15689448|PMID:16199547|PMID:16287098|PMID:16378744|PMID:17576681|PMID:17876718|PMID:18484607|PMID:18710657|PMID:19881469|PMID:20301515|PMID:20301788|PMID:21896407|PMID:21943391|PMID:22078177|PMID:23844448|PMID:23876334|PMID:24120057|PMID:24726177|PMID:25252036|PMID:25545067|PMID:25741868|PMID:26147980|PMID:27317439|PMID:27825773|PMID:28492532|PMID:30809705|PMID:30980944|PMID:34387910|PMID:7795586|PMID:8829629|PMID:9298823|PMID:9375852|PMID:9536098 11762893 TRAPPC2L trafficking protein particle complex subunit 2L gene DOID:1059 intellectual disability ISO RGD:1604619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:32843486 11762893 TRAPPC2L trafficking protein particle complex subunit 2L gene DOID:14780 KBG syndrome ISO RGD:1604619 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:21782149|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31690835 11762893 TRAPPC2L trafficking protein particle complex subunit 2L gene DOID:630 genetic disease ISO RGD:1604619 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 11762893 TRAPPC2L trafficking protein particle complex subunit 2L gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1604619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 11762893 TRAPPC2L trafficking protein particle complex subunit 2L gene DOID:9009062 Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis ISO RGD:1604619 D RGD:7240710 20190315 OMIM 11762893 TRAPPC2L trafficking protein particle complex subunit 2L gene DOID:9009062 Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis ISO RGD:1604619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis PMID:21782149|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30120216|PMID:32843486 11762909 KCTD17 potassium channel tetramerization domain containing 17 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1353287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11762909 KCTD17 potassium channel tetramerization domain containing 17 gene DOID:0090033 myoclonic dystonia ISO RGD:1353287 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11762909 KCTD17 potassium channel tetramerization domain containing 17 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1353287 D RGD:7240710 20180130 OMIM 11762909 KCTD17 potassium channel tetramerization domain containing 17 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1353287 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:17576681|PMID:18570303|PMID:18799783|PMID:22213678|PMID:25741868|PMID:25983243|PMID:28492532|PMID:9536098 11762909 KCTD17 potassium channel tetramerization domain containing 17 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1353287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11762909 KCTD17 potassium channel tetramerization domain containing 17 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1353287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11762909 KCTD17 potassium channel tetramerization domain containing 17 gene DOID:630 genetic disease ISO RGD:1353287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11762949 APIP APAF1 interacting protein gene DOID:1059 intellectual disability ISO RGD:1603043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11762949 APIP APAF1 interacting protein gene DOID:630 genetic disease ISO RGD:1603043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11762949 APIP APAF1 interacting protein gene DOID:9003678 Pyruvate Dehydrogenase E3-Binding Protein Deficiency ISO RGD:1603043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency 11762960 TOR2A torsin family 2 member A gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345727 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11762960 TOR2A torsin family 2 member A gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1345727 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11762960 TOR2A torsin family 2 member A gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1345727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11762960 TOR2A torsin family 2 member A gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1345727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 11762960 TOR2A torsin family 2 member A gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345727 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11762960 TOR2A torsin family 2 member A gene DOID:630 genetic disease ISO RGD:1345727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11762979 TUBG2 tubulin gamma 2 gene DOID:630 genetic disease ISO RGD:1316944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11762997 SLC40A1 solute carrier family 40 member 1 gene DOID:0050711 aceruloplasminemia ISO RGD:733072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20655381 11762997 SLC40A1 solute carrier family 40 member 1 gene DOID:0111028 hemochromatosis type 4 ISO RGD:733072 D RGD:7240710 20180130 OMIM 11762997 SLC40A1 solute carrier family 40 member 1 gene DOID:0111028 hemochromatosis type 4 ISO RGD:733072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 4 PMID:11431687|PMID:11518736|PMID:12730114|PMID:12857562|PMID:12865285|PMID:12873829|PMID:14636642|PMID:15030991|PMID:15338274|PMID:15692071|PMID:15727899|PMID:15831700|PMID:15956209|PMID:16135412|PMID:16351644|PMID:16440176|PMID:16457665|PMID:16813613|PMID:16885049|PMID:17276706|PMID:17490902|PMID:17576681|PMID:17951290|PMID:17997113|PMID:18160816|PMID:19150361|PMID:19383972|PMID:20460119|PMID:21094556|PMID:21199650|PMID:21231898|PMID:21411349|PMID:22584997|PMID:23065513|PMID:23943237|PMID:24714983|PMID:25396007|PMID:25741868|PMID:26059880|PMID:27896572|PMID:28110135|PMID:28492532|PMID:30002125|PMID:30130274|PMID:31640930|PMID:32360131|PMID:9536098 11762997 SLC40A1 solute carrier family 40 member 1 gene DOID:0111029 hemochromatosis type 1 ISO RGD:733072 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 1 PMID:28492532 11762997 SLC40A1 solute carrier family 40 member 1 gene DOID:0111944 immunodeficiency 31B ISO RGD:733072 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 11762997 SLC40A1 solute carrier family 40 member 1 gene DOID:12849 autistic disorder ISO RGD:733072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15446388 11762997 SLC40A1 solute carrier family 40 member 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:20648054|PMID:23587214|PMID:28492532 11762997 SLC40A1 solute carrier family 40 member 1 gene DOID:2352 hemochromatosis ISO RGD:733072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary hemochromatosis 11762997 SLC40A1 solute carrier family 40 member 1 gene DOID:2355 anemia ISO RGD:733072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16434484 11762997 SLC40A1 solute carrier family 40 member 1 gene DOID:289 endometriosis ISO RGD:733072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11762997 SLC40A1 solute carrier family 40 member 1 gene DOID:630 genetic disease ISO RGD:733072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11762997 SLC40A1 solute carrier family 40 member 1 gene DOID:9001287 Ehlers-Danlos Syndrome Type 4 ISO RGD:733072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 PMID:20648054|PMID:23587214|PMID:28492532 11762997 SLC40A1 solute carrier family 40 member 1 gene DOID:9003603 Hemolysis ISO RGD:733072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25247420 11762997 SLC40A1 solute carrier family 40 member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11762997 SLC40A1 solute carrier family 40 member 1 gene DOID:9005725 Iron Overload ISO RGD:733072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17052926 11762997 SLC40A1 solute carrier family 40 member 1 gene DOID:9007188 Liver Neoplasms ISO RGD:733072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21785164 11762997 SLC40A1 solute carrier family 40 member 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21785164 11763011 HOXB9 homeobox B9 gene DOID:630 genetic disease ISO RGD:1314613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11763011 HOXB9 homeobox B9 gene DOID:9000647 Acute Erythroleukemia ISO RGD:1314613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926971 11763011 HOXB9 homeobox B9 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27182052 11763011 HOXB9 homeobox B9 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1314613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27182052 11763011 HOXB9 homeobox B9 gene DOID:9004268 Uterine Neoplasms ISO RGD:1314613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27182052 11763011 HOXB9 homeobox B9 gene DOID:9008939 Breast Neoplasms ISO RGD:1314613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27182052 11763017 OSGEPL1 O-sialoglycoprotein endopeptidase like 1 gene DOID:0111944 immunodeficiency 31B ISO RGD:1313685 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 11763017 OSGEPL1 O-sialoglycoprotein endopeptidase like 1 gene DOID:630 genetic disease ISO RGD:1313685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11763017 OSGEPL1 O-sialoglycoprotein endopeptidase like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11763084 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:10652 Alzheimer's disease ISO RGD:1321122 D RGD:9068941 20220825 MouseDO OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 11763084 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:10763 hypertension ISO RGD:1321122 D RGD:9068941 20200609 RGD PMID:21810655|REF_RGD_ID:8693428 11763084 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:12466 secondary hyperparathyroidism ISO RGD:1310299 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:19770516|REF_RGD_ID:8693427 11763084 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:12849 autistic disorder ISO RGD:1321121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11763084 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:2841 asthma ISO RGD:1310299 D RGD:9068941 20200609 RGD PMID:18188456|REF_RGD_ID:8693422 11763084 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:2841 asthma ISO RGD:1321122 D RGD:9068941 20200609 RGD PMID:18188456|REF_RGD_ID:8693422 11763084 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:630 genetic disease ISO RGD:1321121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11763084 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:9000918 Disease Progression ISO RGD:1321121 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32621833 11763084 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:9002514 Neointima ISO RGD:1321122 D RGD:9068941 20200609 RGD PMID:20307651|REF_RGD_ID:8693429 11763084 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:9003936 Cardiomegaly ISO RGD:1321122 D RGD:9068941 20200609 RGD PMID:23487407|REF_RGD_ID:8693424 11763084 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:9004283 Transplant Rejection ISO RGD:1310299 D RGD:9068941 20200609 RGD PMID:17311089|REF_RGD_ID:8693431 11763084 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1310299 D RGD:9068941 20200609 RGD PMID:22064478|REF_RGD_ID:8693420 11763084 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1321121 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:19671742|PMID:19681904|PMID:32621833 11763099 MAFK MAF bZIP transcription factor K gene DOID:630 genetic disease ISO RGD:1350091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11763106 CD300LB CD300 molecule like family member b gene DOID:630 genetic disease ISO RGD:1604243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11763114 ODAD1 outer dynein arm docking complex subunit 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1602080 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:17576681|PMID:23261302|PMID:23261303|PMID:25741868|PMID:27637300|PMID:28492532|PMID:9536098 11763114 ODAD1 outer dynein arm docking complex subunit 1 gene DOID:0110625 primary ciliary dyskinesia 20 ISO RGD:1602080 D RGD:7240710 20180130 OMIM 11763114 ODAD1 outer dynein arm docking complex subunit 1 gene DOID:0110625 primary ciliary dyskinesia 20 ISO RGD:1602080 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 20 PMID:16199547|PMID:17576681|PMID:23261302|PMID:23261303|PMID:25741868|PMID:27637300|PMID:28492532|PMID:30067075|PMID:32111882|PMID:9536098 11763114 ODAD1 outer dynein arm docking complex subunit 1 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1602080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 PMID:25741868|PMID:28492532 11763114 ODAD1 outer dynein arm docking complex subunit 1 gene DOID:630 genetic disease ISO RGD:1602080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11763114 ODAD1 outer dynein arm docking complex subunit 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1602080 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:23261302|PMID:23261303|PMID:24033266|PMID:25741868|PMID:27637300|PMID:28492532|PMID:30067075|PMID:30291279|PMID:31213628|PMID:32111882|PMID:9536098 11763144 ANGPTL4 angiopoietin like 4 gene DOID:0080490 mucolipidosis type IV ISO RGD:1344384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 11763144 ANGPTL4 angiopoietin like 4 gene DOID:1168 familial hyperlipidemia ISO RGD:1553412 D RGD:9068941 20200609 RGD PMID:12401877|PMID:15837923|REF_RGD_ID:1578349|REF_RGD_ID:1625354 11763144 ANGPTL4 angiopoietin like 4 gene DOID:12849 autistic disorder ISO RGD:1344384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11763144 ANGPTL4 angiopoietin like 4 gene DOID:305 carcinoma ISO RGD:1344384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 11763144 ANGPTL4 angiopoietin like 4 gene DOID:3393 coronary artery disease ISO RGD:1344384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27135400 11763144 ANGPTL4 angiopoietin like 4 gene DOID:630 genetic disease ISO RGD:1344384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11763144 ANGPTL4 angiopoietin like 4 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1344384 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17130448 11763144 ANGPTL4 angiopoietin like 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1344384 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17130448 11763144 ANGPTL4 angiopoietin like 4 gene DOID:9003370 Dyslipidemias ISO RGD:1344384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17322881 11763144 ANGPTL4 angiopoietin like 4 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1344384 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17130448 11763144 ANGPTL4 angiopoietin like 4 gene DOID:9005369 Hepatomegaly ISO RGD:1553412 D RGD:9068941 20200609 RGD PMID:15837923|REF_RGD_ID:1625354 11763144 ANGPTL4 angiopoietin like 4 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1344384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28842503 11763144 ANGPTL4 angiopoietin like 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1344384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 11763144 ANGPTL4 angiopoietin like 4 gene DOID:9452 fatty liver disease ISO RGD:1344384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28842503 11763144 ANGPTL4 angiopoietin like 4 gene DOID:9452 fatty liver disease ISO RGD:1553412 D RGD:9068941 20200609 RGD PMID:15837923|REF_RGD_ID:1625354 11763144 ANGPTL4 angiopoietin like 4 gene DOID:9970 obesity ISO RGD:1344384 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28842503 11763144 ANGPTL4 angiopoietin like 4 gene DOID:9970 obesity resistance ISO RGD:1553412 D RGD:9068941 20200609 RGD PMID:17210919|REF_RGD_ID:1625353 11763156 DZANK1 double zinc ribbon and ankyrin repeat domains 1 gene DOID:630 genetic disease ISO RGD:1322749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11763180 GUK1 guanylate kinase 1 gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:1320084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:28492532 11763180 GUK1 guanylate kinase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1320084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11763180 GUK1 guanylate kinase 1 gene DOID:630 genetic disease ISO RGD:1320084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11763180 GUK1 guanylate kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1309638 D RGD:9068941 20200609 RGD protein:decreased expression:retina (rat) PMID:17465459|REF_RGD_ID:5147874 11763180 GUK1 guanylate kinase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11763213 CLEC4D C-type lectin domain family 4 member D gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1347298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11763213 CLEC4D C-type lectin domain family 4 member D gene DOID:0060758 immunodeficiency with hyper-IgM type 2 ISO RGD:1347298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 PMID:16964591|PMID:28492532 11763213 CLEC4D C-type lectin domain family 4 member D gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1347298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11763213 CLEC4D C-type lectin domain family 4 member D gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1347298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11763213 CLEC4D C-type lectin domain family 4 member D gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1347298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11763213 CLEC4D C-type lectin domain family 4 member D gene DOID:0111621 Temtamy syndrome ISO RGD:1347298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11763213 CLEC4D C-type lectin domain family 4 member D gene DOID:630 genetic disease ISO RGD:1347298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11763213 CLEC4D C-type lectin domain family 4 member D gene DOID:850 lung disease ISO RGD:1347298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21602193 11763213 CLEC4D C-type lectin domain family 4 member D gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1347298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1307891 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:17006986|REF_RGD_ID:1599139 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:1317349 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:19422483|REF_RGD_ID:25440492 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:1317349 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: (human) PMID:25345946|REF_RGD_ID:24922200 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:1317350 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:serum, liver (mouse) PMID:29569260|REF_RGD_ID:24922201 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:25536648|PMID:26770322|REF_RGD_ID:25330097|REF_RGD_ID:25824941 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1317350 D RGD:9068941 20200609 RGD associated with obesity;protein:decreased expression:liver (mouse) PMID:19763702|REF_RGD_ID:25330094 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:0080547 non-alcoholic steatohepatitis susceptibility ISO RGD:1307891 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:20606728|REF_RGD_ID:21076282 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:20965162|REF_RGD_ID:25440494 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD associated with obesity PMID:30131158|REF_RGD_ID:25824942 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:1317350 D RGD:9068941 20200609 RGD PMID:18666257|REF_RGD_ID:25330095 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:10603 glucose intolerance treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:23797890|REF_RGD_ID:25330096 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:1612 breast cancer no_association ISO RGD:1317349 D RGD:9068941 20200609 RGD PMID:19723917|REF_RGD_ID:8694417 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:2018 hyperinsulinism ISO RGD:1307891 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle cell PMID:16326833|REF_RGD_ID:1625765 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:5082 liver cirrhosis ISO RGD:1317350 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (mouse) PMID:17006986|REF_RGD_ID:1599139 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:5844 myocardial infarction ISO RGD:1317350 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart left ventricle PMID:16415076|REF_RGD_ID:1625764 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:783 end stage renal disease ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:24028144|REF_RGD_ID:8695941 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:24797033|REF_RGD_ID:25824940 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:9001573 Experimental Liver Cirrhosis severity ISO RGD:1317350 D RGD:9068941 20200609 RGD PMID:29237572|REF_RGD_ID:24922203 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:23533720|REF_RGD_ID:8695947 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:19220660|REF_RGD_ID:2312478 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1317350 D RGD:9068941 20200609 RGD Reduced Adipor2 mRNA in livers of diabetic mice PMID:18222103|REF_RGD_ID:2312488 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:9005643 Experimental Diabetes Mellitus no_association ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:17884446|REF_RGD_ID:2312495 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:9005930 Endotoxemia severity ISO RGD:1307891 D RGD:9068941 20200609 RGD associated with obesity;mRNA:decreased expression:liver (rat) PMID:23838384|REF_RGD_ID:8695926 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:9006944 Alcoholic Fatty Liver treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:26115886|REF_RGD_ID:25330099 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:9006944 Alcoholic Fatty Liver treatment ISO RGD:1317350 D RGD:9068941 20200609 RGD PMID:18755807|PMID:22013387|PMID:27220557|REF_RGD_ID:25440493|REF_RGD_ID:25824939|REF_RGD_ID:25824943 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:1307891 D RGD:9068941 20200609 RGD associated with obesity, LPS;mRNA:decreased expression:liver (rat) PMID:23838384|REF_RGD_ID:8695926 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:9007456 Female Infertility ISO RGD:1317349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22265003 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:9007692 Insulin Resistance treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:24797033|PMID:30225267|REF_RGD_ID:21406435|REF_RGD_ID:25824940 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1317349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317349 D RGD:9068941 20200609 RGD Allele A of +33371 A/G polymorphism for ADIPOR2 confers increased risk of T2DM in a Chinese population PMID:18075289|REF_RGD_ID:2312490 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317349 D RGD:9068941 20200609 RGD Reduced expression of ADIPOR2 mRNA in muscle, which may contribute to insulin resistance PMID:18363889|REF_RGD_ID:2312486 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317349 D RGD:9068941 20200609 RGD Russian population, 129 cases, 117 controls PMID:18548168|REF_RGD_ID:2312480 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1317349 D RGD:9068941 20200609 RGD 985 T2DM cases and 1050 controls, Chinese population, SNP association study PMID:19631916|REF_RGD_ID:2312476 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:9452 fatty liver disease treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:30225267|REF_RGD_ID:21406435 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:9452 fatty liver disease treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19076162|REF_RGD_ID:2307264 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:9970 obesity ISO RGD:1307891 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:16483885|REF_RGD_ID:1625763 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:9970 obesity severity ISO RGD:1307891 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:23838384|REF_RGD_ID:8695926 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:9970 obesity treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:30225267|REF_RGD_ID:21406435 11763226 ADIPOR2 adiponectin receptor 2 gene DOID:9970 obesity treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD associated with non-alcoholic fatty liver disease PMID:30131158|REF_RGD_ID:25824942 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:0050589 inflammatory bowel disease ISO RGD:1317504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983784 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:0080690 RASopathy ISO RGD:1317504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:0081120 Graves ophthalmopathy ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1468682, rs4729535 and rs17467232 (human) PMID:17608818|REF_RGD_ID:7829763 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:0081267 graft-versus-host disease susceptibility ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-1123G>C (rs2488457) (human) PMID:23025987|REF_RGD_ID:11534005 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1317504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1317504 D RGD:9068941 20200609 RGD protein:increased expression:B cell (human) PMID:22569400|REF_RGD_ID:11535006 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:1040 chronic lymphocytic leukemia susceptibility ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:snp:cds:p.R620W (rs2476601) (human) PMID:23287625|REF_RGD_ID:11533998 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:12306 vitiligo ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA: snp : cds: rs2476601 PMID:16015369|REF_RGD_ID:6484552 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:12306 vitiligo ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:polymorphism: :1858C>T (p.R620W) (human) PMID:18426414|REF_RGD_ID:7829737 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:12361 Graves' disease ISO RGD:1317504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21190368 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:12361 Graves' disease ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA: SNP: cds: C1858T PMID:15504986|REF_RGD_ID:6484538 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:12361 Graves' disease ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:promoter:-1123G>C (human) PMID:18687223|REF_RGD_ID:7829738 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:12361 Graves' disease no_association ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1468682, rs4729535, rs17155601, rs17467232 (human) PMID:17608818|REF_RGD_ID:7829763 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:12894 Sjogren's syndrome ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:snp:cds:c.1858C>T (human) PMID:16163373|REF_RGD_ID:11534998 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:12894 Sjogren's syndrome no_association ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:snp:cds:c.1858C>T (human) PMID:15933742|REF_RGD_ID:11534999 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:13241 Behcet's disease ISO RGD:1317504 D RGD:9068941 20200609 RGD PMID:17660222|REF_RGD_ID:6484733 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:13241 Behcet's disease no_association ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2488457, rs1310182, rs3789604 (human) PMID:22396730|REF_RGD_ID:7829745 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:13375 temporal arteritis ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R620W (rs2476601) (human) PMID:23946333|REF_RGD_ID:7829739 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:13375 temporal arteritis no_association ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:polymorphism: :1858C>T (human) PMID:16078327|REF_RGD_ID:7829744 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:13774 Addison's disease ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA: snp: cds: rs2476601 PMID:18301444|REF_RGD_ID:6484549 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:1459 hypothyroidism ISO RGD:1317504 D RGD:9068941 20200609 RGD PMID:22493691|REF_RGD_ID:6484670 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:1555 urticaria ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs1310182, rs2488457, rs3811021 (human) PMID:22722472|REF_RGD_ID:7829761 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:2377 multiple sclerosis no_association ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:missense mutation: :R620W (rs2476601) (human) PMID:15934099|REF_RGD_ID:6484550 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:289 endometriosis ISO RGD:1317504 D RGD:9068941 20200609 RGD PMID:20070289|REF_RGD_ID:6484710 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:2957 pulmonary tuberculosis ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:SNPs:cds:788G>A, 1858C>T (human) PMID:19563523|REF_RGD_ID:6484723 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:3393 coronary artery disease ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA: snp: cds: rs2476601 PMID:21846984|REF_RGD_ID:6484553 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:417 autoimmune disease ISO RGD:1317504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21341673 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:418 systemic scleroderma ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA: snp: cds: rs2476601 PMID:21131644|REF_RGD_ID:6484551 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:418 systemic scleroderma no_association ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R620W (rs2476601) (human) PMID:16464986|REF_RGD_ID:7829741 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:437 myasthenia gravis ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA: snp: cds: 1858T PMID:19693092|REF_RGD_ID:6484722 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:630 genetic disease ISO RGD:1317504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA: snp : cds : rs2476601 PMID:15934099|REF_RGD_ID:6484550 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:7148 rheumatoid arthritis ISO RGD:1317504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO PMID:15004560|PMID:15208781|PMID:15273934|PMID:15580548|PMID:15719322|PMID:15744042|PMID:16273109|PMID:16339849|PMID:16470599|PMID:17170052|PMID:17436241|PMID:17554300|PMID:17878369|PMID:18301444|PMID:18978792|PMID:19265110|PMID:19430480|PMID:19898480|PMID:21841778|PMID:28492532 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:7148 rheumatoid arthritis no_association ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:SNP::1858C>T (human) PMID:21467606|REF_RGD_ID:7829746 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1317504 D RGD:7240710 20190329 OMIM 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:7188 autoimmune thyroiditis ISO RGD:1317504 D RGD:9068941 20200609 RGD PMID:22374238|REF_RGD_ID:6484667 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:8778 Crohn's disease ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:SNP:cds:rs2476601 (human) PMID:18587394|REF_RGD_ID:6484668 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:8893 psoriasis no_association ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:1858C>T (p.R620W) (rs2476601) (human) PMID:20039785|REF_RGD_ID:7829765 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:8893 psoriasis no_association ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R620W (rs2476601) (human) PMID:18341666|REF_RGD_ID:7829762 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:8893 psoriasis onset ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:SNPs:intron, 3' utr: (rs1217414, rs3789604) (human) PMID:18341666|REF_RGD_ID:7829762 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:8893 psoriasis susceptibility ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:SNP:3' utr: (rs3789604) (human) PMID:18923449|REF_RGD_ID:7829764 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA: snp: cds: C1858T PMID:21597364|REF_RGD_ID:6484673 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:8924 autoimmune thrombocytopenic purpura no_association ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:snp:cds:c.1858C>T (rs2476601) (human) PMID:27309885|REF_RGD_ID:11535019 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9002457 Experimental Arthritis ISO RGD:1307992 D RGD:9068941 20200609 RGD protein:increased expression:metatarsophalangeal joint, mononuclear cell (rat) PMID:24998229|REF_RGD_ID:11532752 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis susceptibility ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:snp:cds:c.1858C>T (rs2476601) (human) PMID:22880107|REF_RGD_ID:11533997 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9003997 Familial Idiopathic Inflammatory Myopathy susceptibility ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:snp:cds:p.R620W (rs2476601) (human) PMID:18821667|REF_RGD_ID:11535001 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9007355 Hashimoto Disease ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA: snp: cds: rs2476601 PMID:15719322|REF_RGD_ID:6484548 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9008 psoriatic arthritis ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA: snp: cds: rs2476601 PMID:21410964|REF_RGD_ID:6484592 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9008 psoriatic arthritis no_association ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:missense mutation: :R620W (rs2476601) (human) PMID:15934099|REF_RGD_ID:6484550 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9074 systemic lupus erythematosus ISO RGD:1317504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to PMID:15004560|PMID:15208781|PMID:15273934|PMID:15580548|PMID:15719322|PMID:15744042|PMID:16273109|PMID:16339849|PMID:16470599|PMID:17170052|PMID:17436241|PMID:17554300|PMID:17878369|PMID:18301444|PMID:18978792|PMID:19265110|PMID:19430480|PMID:19898480|PMID:21841778|PMID:28492532 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1317504 D RGD:7240710 20230505 OMIM 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9351 diabetes mellitus ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA: snp: cds: C1858T PMID:18764813|REF_RGD_ID:6484729 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1317504 D RGD:9068941 20230506 CTD CTD Direct Evidence: marker/mechanism PMID:21190368|PMID:30224649 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1317504 D RGD:9068941 20230506 RGD DNA: snp: cds: C1858T PMID:15004560|REF_RGD_ID:6484524 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:1317504 D RGD:9068941 20200609 RGD PMID:21873553|REF_RGD_ID:6484692 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1317504 D RGD:7240710 20230505 OMIM 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9849 Meniere's disease ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R620W (c.1858C>T) (rs2476601) (human) PMID:19780033|REF_RGD_ID:7829747 11763253 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:986 alopecia areata severity ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:snp:cds:c.1858C>T (human) PMID:16829308|REF_RGD_ID:6484734 11763253 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) gene DOID:417 autoimmune disease ISO RGD:1552858 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R619W (mouse) PMID:23619366|REF_RGD_ID:7829736 11763282 ELL elongation factor for RNA polymerase II gene DOID:630 genetic disease ISO RGD:1322410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11763282 ELL elongation factor for RNA polymerase II gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1322410 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11763300 ASIC3 acid sensing ion channel subunit 3 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1353665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 11763300 ASIC3 acid sensing ion channel subunit 3 gene DOID:2843 long QT syndrome ISO RGD:1353665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 11763300 ASIC3 acid sensing ion channel subunit 3 gene DOID:630 genetic disease ISO RGD:1353665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11763300 ASIC3 acid sensing ion channel subunit 3 gene DOID:9005372 Inflammation ISO RGD:1353665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11588175 11763324 POLQ DNA polymerase theta gene DOID:0080600 COVID-19 ISO RGD:1320324 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11763324 POLQ DNA polymerase theta gene DOID:3307 teratoma ISO RGD:1320324 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 11763324 POLQ DNA polymerase theta gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1320324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 PMID:25741868 11763324 POLQ DNA polymerase theta gene DOID:630 genetic disease ISO RGD:1320324 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11763324 POLQ DNA polymerase theta gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1320324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 11763324 POLQ DNA polymerase theta gene DOID:9270 alkaptonuria ISO RGD:1320324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11763366 CYTH1 cytohesin 1 gene DOID:0060224 atrial fibrillation ISO RGD:736054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 11763366 CYTH1 cytohesin 1 gene DOID:630 genetic disease ISO RGD:736054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11763388 FAM83E family with sequence similarity 83 member E gene DOID:630 genetic disease ISO RGD:1606549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11763396 RNF213 ring finger protein 213 gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1351712 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:28492532 11763396 RNF213 ring finger protein 213 gene DOID:13099 Moyamoya disease ISO RGD:1351712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Moyamoya disease PMID:33568546 11763396 RNF213 ring finger protein 213 gene DOID:13620 patent foramen ovale ISO RGD:1351712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Patent foramen ovale PMID:25741868 11763396 RNF213 ring finger protein 213 gene DOID:1826 epilepsy ISO RGD:1351712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure 11763396 RNF213 ring finger protein 213 gene DOID:5889 anaplastic ependymoma ISO RGD:1351712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anaplastic ependymoma PMID:26822237 11763396 RNF213 ring finger protein 213 gene DOID:630 genetic disease ISO RGD:1351712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11763396 RNF213 ring finger protein 213 gene DOID:9007096 Stroke ISO RGD:1351712 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25278557|PMID:25741868|PMID:28492532 11763396 RNF213 ring finger protein 213 gene DOID:9007536 Moyamoya Disease 2 ISO RGD:1351712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Moyamoya disease 2 PMID:21048783|PMID:21799892|PMID:22377813|PMID:22931863|PMID:23110205|PMID:25278557|PMID:25741868|PMID:25956231|PMID:26126547|PMID:26530418|PMID:27515544|PMID:27736983|PMID:28492532|PMID:29483232|PMID:31474762 11763396 RNF213 ring finger protein 213 gene DOID:9007536 Moyamoya Disease 2 susceptibility ISO RGD:1351712 D RGD:7240710 20190502 OMIM 11763396 RNF213 ring finger protein 213 gene DOID:9007908 Aortic Coarctation ISO RGD:1351712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Midaortic syndrome PMID:29483232 11763396 RNF213 ring finger protein 213 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1351712 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 11763478 LOC100978434 C-type lectin domain family 4 member M gene DOID:0040084 Streptococcus pneumonia severity ISO RGD:1557900 D RGD:9068941 20201022 RGD PMID:16134084|REF_RGD_ID:39938986 11763478 LOC100978434 C-type lectin domain family 4 member M gene DOID:0050598 extrapulmonary tuberculosis susceptibility ISO RGD:1603701 D RGD:9068941 20201022 RGD DNA:repeats:exon 4: allele 6, allele 9 (human) PMID:24874302|REF_RGD_ID:39938981 11763478 LOC100978434 C-type lectin domain family 4 member M gene DOID:0080490 mucolipidosis type IV ISO RGD:1603701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11763478 LOC100978434 C-type lectin domain family 4 member M gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1603701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 11763478 LOC100978434 C-type lectin domain family 4 member M gene DOID:1412 bacteriuria ISO RGD:1557900 D RGD:9068941 20210219 RGD associated with Escherichia Coli Infections PMID:31998663|REF_RGD_ID:41410804 11763478 LOC100978434 C-type lectin domain family 4 member M gene DOID:2945 severe acute respiratory syndrome no_association ISO RGD:1603701 D RGD:9068941 20210101 RGD DNA:repeats:exon 4: PMID:17534354|PMID:17534355|REF_RGD_ID:36049806|REF_RGD_ID:36049807 11763478 LOC100978434 C-type lectin domain family 4 member M gene DOID:2945 severe acute respiratory syndrome susceptibility ISO RGD:1603701 D RGD:9068941 20200723 RGD DNA:repeats:exon 4: PMID:16369534|PMID:18708672|REF_RGD_ID:35673327|REF_RGD_ID:36049808 11763478 LOC100978434 C-type lectin domain family 4 member M gene DOID:2957 pulmonary tuberculosis ISO RGD:1557900 D RGD:9068941 20201022 RGD PMID:17224292|PMID:19770268|REF_RGD_ID:39938983|REF_RGD_ID:39938987 11763478 LOC100978434 C-type lectin domain family 4 member M gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1603701 D RGD:9068941 20201022 RGD DNA:repeats:exon 4: allele 4, allele 5, allele 9 (human) PMID:24874302|REF_RGD_ID:39938981 11763478 LOC100978434 C-type lectin domain family 4 member M gene DOID:630 genetic disease ISO RGD:1603701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11763478 LOC100978434 C-type lectin domain family 4 member M gene DOID:684 hepatocellular carcinoma ISO RGD:1603701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11763478 LOC100978434 C-type lectin domain family 4 member M gene DOID:9003284 HIV Seropositivity ISO RGD:1603701 D RGD:9068941 20201016 RGD DNA:repeats:exon 4 PMID:25656622|REF_RGD_ID:11520989 11763478 LOC100978434 C-type lectin domain family 4 member M gene DOID:9003284 HIV Seropositivity susceptibility ISO RGD:1603701 D RGD:9068941 20201022 RGD DNA:repeats: PMID:16453266|REF_RGD_ID:39938979 11763478 LOC100978434 C-type lectin domain family 4 member M gene DOID:9003284 HIV Seropositivity susceptibility ISO RGD:1603701 D RGD:9068941 20210219 RGD DNA:repeat: PMID:20217198|REF_RGD_ID:39938989 11763478 LOC100978434 C-type lectin domain family 4 member M gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1603701 D RGD:9068941 20210219 RGD DNA:polymorphism,repeats:exon4: allele 4 (human) PMID:24283933|REF_RGD_ID:41410818 11763478 LOC100978434 C-type lectin domain family 4 member M gene DOID:9004702 Pregnancy Complications susceptibility ISO RGD:1561466 D RGD:9068941 20210219 RGD associated with hepatitis B; DNA:: PMID:22338216|REF_RGD_ID:39938980 11763478 LOC100978434 C-type lectin domain family 4 member M gene DOID:9006550 hepatosplenic schistosomiasis ISO RGD:1557900 D RGD:9068941 20201022 RGD PMID:18981244|REF_RGD_ID:39938988 11763478 LOC100978434 C-type lectin domain family 4 member M gene DOID:9007367 Septic Peritonitis susceptibility ISO RGD:1557900 D RGD:9068941 20210219 RGD PMID:15583012|REF_RGD_ID:39939009 11763499 BGN biglycan gene DOID:0050454 periventricular nodular heterotopia ISO RGD:737524 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11763499 BGN biglycan gene DOID:0050476 Barth syndrome ISO RGD:737524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11763499 BGN biglycan gene DOID:0050800 creatine transporter deficiency ISO RGD:737524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11763499 BGN biglycan gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:737524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11763499 BGN biglycan gene DOID:0111861 Meester-Loeys syndrome ISO RGD:737524 D RGD:7240710 20200619 OMIM 11763499 BGN biglycan gene DOID:0111861 Meester-Loeys syndrome ISO RGD:737524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meester-Loeys syndrome PMID:25741868|PMID:27632686|PMID:28492532 11763499 BGN biglycan gene DOID:0112003 immunodeficiency 33 ISO RGD:737524 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11763499 BGN biglycan gene DOID:0112150 X-linked spondyloepimetaphyseal dysplasia ISO RGD:737524 D RGD:7240710 20190315 OMIM 11763499 BGN biglycan gene DOID:0112150 X-linked spondyloepimetaphyseal dysplasia ISO RGD:737524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked spondyloepimetaphyseal dysplasia PMID:25741868|PMID:27236923|PMID:28492532|PMID:8064814 11763499 BGN biglycan gene DOID:10588 adrenoleukodystrophy ISO RGD:737524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11763499 BGN biglycan gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:737524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11763499 BGN biglycan gene DOID:12849 autistic disorder ISO RGD:737524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11763499 BGN biglycan gene DOID:13628 favism ISO RGD:737524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11763499 BGN biglycan gene DOID:14004 thoracic aortic aneurysm ISO RGD:737524 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:27632686 11763499 BGN biglycan gene DOID:2729 dyskeratosis congenita ISO RGD:737524 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11763499 BGN biglycan gene DOID:607 paraplegia ISO RGD:737524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11763499 BGN biglycan gene DOID:630 genetic disease ISO RGD:737524 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11763499 BGN biglycan gene DOID:7148 rheumatoid arthritis ISO RGD:737524 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15292528 11763499 BGN biglycan gene DOID:9000918 Disease Progression ISO RGD:737524 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35234341 11763499 BGN biglycan gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737524 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11763499 BGN biglycan gene DOID:9002720 Splenomegaly ISO RGD:737524 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11763499 BGN biglycan gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737524 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35234341 11763499 BGN biglycan gene DOID:9008939 Breast Neoplasms ISO RGD:737524 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35234341 11763512 STAB2 stabilin 2 gene DOID:630 genetic disease ISO RGD:1349105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11763512 STAB2 stabilin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1349105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11763512 STAB2 stabilin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11763594 SULF2 sulfatase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1312895 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11763594 SULF2 sulfatase 2 gene DOID:2234 focal epilepsy ISO RGD:1312895 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11763594 SULF2 sulfatase 2 gene DOID:289 endometriosis ISO RGD:1312895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642|PMID:21063030 11763594 SULF2 sulfatase 2 gene DOID:630 genetic disease ISO RGD:1312895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11763624 TSSK3 testis specific serine kinase 3 gene DOID:630 genetic disease ISO RGD:1347200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11763630 HNRNPH3 heterogeneous nuclear ribonucleoprotein H3 gene DOID:630 genetic disease ISO RGD:1320680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11763659 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:0060043 sexual health disorder ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19295509 11763659 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:0081182 autosomal recessive intellectual developmental disorder 6 ISO RGD:733691 D RGD:7240710 20180130 OMIM 11763659 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:0081182 autosomal recessive intellectual developmental disorder 6 ISO RGD:733691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 6 PMID:17847003|PMID:25039795|PMID:25627829|PMID:25741868|PMID:28492532 11763659 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:0111962 combined immunodeficiency ISO RGD:733691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:25039795|PMID:25627829 11763659 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:1059 intellectual disability ISO RGD:733691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28180184|PMID:34375587 11763659 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:12849 autistic disorder ISO RGD:733691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:34375587 11763659 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:12858 Huntington's disease onset ISO RGD:733691 D RGD:9068941 20200609 RGD DNA:repeat: (human) PMID:10522893|REF_RGD_ID:1358638 11763659 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:1826 epilepsy ISO RGD:733691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:34375587 11763659 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:303 substance-related disorder ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11763659 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:3068 glioblastoma ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11763659 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:3312 bipolar disorder ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18332879 11763659 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11763659 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:5419 schizophrenia ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18923069 11763659 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:733691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:26614431 11763659 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:628 combined T cell and B cell immunodeficiency ISO RGD:733691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined T and B cell immunodeficiency PMID:25039795|PMID:25627829 11763659 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:630 genetic disease ISO RGD:733691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28180184|PMID:34375587 11763659 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11763659 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11763659 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11763659 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11763659 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9004009 Reperfusion Injury ISO RGD:2733 D RGD:9068941 20200609 RGD PMID:17639597|REF_RGD_ID:2316528 11763659 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9005714 NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES ISO RGD:733691 D RGD:7240710 20221221 OMIM 11763659 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9005714 NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES ISO RGD:733691 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with impaired language and ataxia and with or without seizures PMID:25741868|PMID:28180184|PMID:28492532|PMID:34375587 11763659 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9007188 Liver Neoplasms ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11763659 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9008582 Developmental Disease ISO RGD:733691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11763659 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9008939 Breast Neoplasms ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11763686 CFAP119 cilia and flagella associated protein 119 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1603940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11763686 CFAP119 cilia and flagella associated protein 119 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1603940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 11763686 CFAP119 cilia and flagella associated protein 119 gene DOID:630 genetic disease ISO RGD:1603940 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11763717 CAMTA2 calmodulin binding transcription activator 2 gene DOID:0050941 spastic ataxia 2 ISO RGD:1322678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 11763717 CAMTA2 calmodulin binding transcription activator 2 gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:1322678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 11763717 CAMTA2 calmodulin binding transcription activator 2 gene DOID:630 genetic disease ISO RGD:1322678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11763744 DISP1 dispatched RND transporter family member 1 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1317002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 11763744 DISP1 dispatched RND transporter family member 1 gene DOID:0110876 holoprosencephaly 7 ISO RGD:1317002 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 7 PMID:25741868 11763744 DISP1 dispatched RND transporter family member 1 gene DOID:10485 esophageal atresia ISO RGD:1317002 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Esophageal atresia PMID:25741868 11763744 DISP1 dispatched RND transporter family member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1317002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11763744 DISP1 dispatched RND transporter family member 1 gene DOID:4621 holoprosencephaly ISO RGD:1317002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Lobar holoprosencephaly | ClinVar Annotator: match by term: Microform holoprosencephaly PMID:25741868|PMID:28492532|PMID:28640243 11763744 DISP1 dispatched RND transporter family member 1 gene DOID:630 genetic disease ISO RGD:1317002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11763744 DISP1 dispatched RND transporter family member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11763779 DDX60 DExD/H-box helicase 60 gene DOID:10283 prostate cancer ISO RGD:1604355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11763779 DDX60 DExD/H-box helicase 60 gene DOID:630 genetic disease ISO RGD:1604355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11763779 DDX60 DExD/H-box helicase 60 gene DOID:9001488 Human Influenza ISO RGD:1604355 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11763828 DTD1 D-aminoacyl-tRNA deacylase 1 gene DOID:630 genetic disease ISO RGD:1323478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11763837 PRODH2 proline dehydrogenase 2 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1315565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11763837 PRODH2 proline dehydrogenase 2 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1315565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11763837 PRODH2 proline dehydrogenase 2 gene DOID:630 genetic disease ISO RGD:1315565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11763837 PRODH2 proline dehydrogenase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11763851 RBP7 retinol binding protein 7 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1348730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11763851 RBP7 retinol binding protein 7 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1348730 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11763851 RBP7 retinol binding protein 7 gene DOID:0111936 immunodeficiency 14 ISO RGD:1348730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 11763851 RBP7 retinol binding protein 7 gene DOID:630 genetic disease ISO RGD:1348730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11763864 PBK PDZ binding kinase gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1351038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11763864 PBK PDZ binding kinase gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1351038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11763864 PBK PDZ binding kinase gene DOID:11612 polycystic ovary syndrome ISO RGD:1351038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11763864 PBK PDZ binding kinase gene DOID:630 genetic disease ISO RGD:1351038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11763864 PBK PDZ binding kinase gene DOID:684 hepatocellular carcinoma ISO RGD:1351038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11763876 P2RY10 P2Y receptor family member 10 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11763876 P2RY10 P2Y receptor family member 10 gene DOID:12849 autistic disorder ISO RGD:1343009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11763876 P2RY10 P2Y receptor family member 10 gene DOID:630 genetic disease ISO RGD:1343009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11763879 KLF11 KLF transcription factor 11 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:1605424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:25741868 11763879 KLF11 KLF transcription factor 11 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1605424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:15774581|PMID:18199129|PMID:25741868|PMID:28492532|PMID:34393998 11763879 KLF11 KLF transcription factor 11 gene DOID:0111106 maturity-onset diabetes of the young type 7 ISO RGD:1605424 D RGD:7240710 20180130 OMIM 11763879 KLF11 KLF transcription factor 11 gene DOID:0111106 maturity-onset diabetes of the young type 7 ISO RGD:1605424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 7 PMID:15774581|PMID:16199547|PMID:17130512|PMID:18199129|PMID:18593768|PMID:19122346|PMID:19843526|PMID:23589285|PMID:25741868|PMID:28492532|PMID:31124255|PMID:33538814|PMID:34393998 11763879 KLF11 KLF transcription factor 11 gene DOID:630 genetic disease ISO RGD:1605424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11763879 KLF11 KLF transcription factor 11 gene DOID:9005369 Hepatomegaly ISO RGD:1605424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 11763879 KLF11 KLF transcription factor 11 gene DOID:9007692 Insulin Resistance ISO RGD:1605424 D RGD:9068941 20200609 RGD PMID:18505768|REF_RGD_ID:2311539 11763879 KLF11 KLF transcription factor 11 gene DOID:9351 diabetes mellitus ISO RGD:1605424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:15774581|PMID:17130512|PMID:18414213|PMID:18593768|PMID:19122346|PMID:19843526|PMID:25741868|PMID:28492532|PMID:33538814 11763879 KLF11 KLF transcription factor 11 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1605424 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:15774581|PMID:18199129|PMID:25741868|PMID:28492532|PMID:34393998 11763893 TAS1R3 taste 1 receptor member 3 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1344836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11763893 TAS1R3 taste 1 receptor member 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1344836 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11763893 TAS1R3 taste 1 receptor member 3 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1344836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11763893 TAS1R3 taste 1 receptor member 3 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1344836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11763893 TAS1R3 taste 1 receptor member 3 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1344836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11763893 TAS1R3 taste 1 receptor member 3 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1344836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11763893 TAS1R3 taste 1 receptor member 3 gene DOID:0111934 immunodeficiency 38 ISO RGD:1344836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11763893 TAS1R3 taste 1 receptor member 3 gene DOID:0111935 immunodeficiency 16 ISO RGD:1344836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11763893 TAS1R3 taste 1 receptor member 3 gene DOID:12336 male infertility ISO RGD:1344836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23818598 11763893 TAS1R3 taste 1 receptor member 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11763893 TAS1R3 taste 1 receptor member 3 gene DOID:630 genetic disease ISO RGD:1344836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11763893 TAS1R3 taste 1 receptor member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11763893 TAS1R3 taste 1 receptor member 3 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1344836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11763893 TAS1R3 taste 1 receptor member 3 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1344836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11763904 MLNR motilin receptor gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1354387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11763904 MLNR motilin receptor gene DOID:1059 intellectual disability ISO RGD:1354387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11763904 MLNR motilin receptor gene DOID:630 genetic disease ISO RGD:1354387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11763909 GLA galactosidase alpha gene DOID:0050700 cardiomyopathy ISO RGD:1344140 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10666480|PMID:11531969|PMID:11668641|PMID:11828341|PMID:11889412|PMID:11914245|PMID:12175777|PMID:14635108|PMID:14680977|PMID:15091117|PMID:15702404|PMID:15712228|PMID:15776423|PMID:15806320|PMID:16232095|PMID:16533976|PMID:16595074|PMID:16754800|PMID:1677356|PMID:16773563|PMID:17040996|PMID:17532296|PMID:17555407|PMID:17804462|PMID:18003767|PMID:18057066|PMID:18154965|PMID:18205205|PMID:18297328|PMID:18596132|PMID:18830871|PMID:18849176|PMID:19373884|PMID:19621417|PMID:19823873|PMID:20031620|PMID:20110537|PMID:20122163|PMID:20360539|PMID:20464614|PMID:20716442|PMID:20821055|PMID:21062768|PMID:21092187|PMID:21229318|PMID:21517827|PMID:21549080|PMID:21598360|PMID:21683120|PMID:21890869|PMID:21946453|PMID:21972175|PMID:22205110|PMID:22226368|PMID:22336178|PMID:22437327|PMID:22551898|PMID:22682330|PMID:22805550|PMID:22905681|PMID:23109060|PMID:23219219|PMID:23306324|PMID:23332617|PMID:23393592|PMID:23430502|PMID:23430526|PMID:23465405|PMID:23568732|PMID:23608164|PMID:23677059|PMID:23818648|PMID:23922385|PMID:2393552|PMID:23935525|PMID:24015197|PMID:24033266|PMID:24082139|PMID:24365053|PMID:24380807|PMID:24386359|PMID:24395922|PMID:24582695|PMID:24661928|PMID:24784157|PMID:24829596|PMID:24980630|PMID:25040344|PMID:25078086|PMID:25179549|PMID:25382311|PMID:25468652|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26047621|PMID:26252393|PMID:26305465|PMID:26384850|PMID:26415523|PMID:26866599|PMID:26869469|PMID:26990548|PMID:27142856|PMID:27532257|PMID:27554049|PMID:27595546|PMID:27657681|PMID:27832731|PMID:27916943|PMID:27931613|PMID:28082092|PMID:28276057|PMID:28299312|PMID:28340804|PMID:2836863|PMID:28377241|PMID:28409012|PMID:28430823|PMID:28492532|PMID:28596458|PMID:28646478|PMID:28728877|PMID:28799081|PMID:28941980|PMID:28943383|PMID:28988177|PMID:29018006|PMID:29037082|PMID:29044343|PMID:29132836|PMID:29215092|PMID:29330335|PMID:29530533|PMID:29621274|PMID:29631605|PMID:29649853|PMID:29867742|PMID:29875425|PMID:29982630|PMID:30023289|PMID:30246259|PMID:30380558|PMID:30386727|PMID:30477121|PMID:30569317|PMID:30662066|PMID:30739116|PMID:30773290|PMID:31020198|PMID:31036492|PMID:31291414|PMID:31449323|PMID:31566927|PMID:31613176|PMID:31654629|PMID:31860127|PMID:31907047|PMID:31949022|PMID:31956509|PMID:31996269|PMID:32011328|PMID:32042454|PMID:32109691|PMID:32150461|PMID:32246457|PMID:32418857|PMID:32435590|PMID:32531501|PMID:33036343|PMID:33543778|PMID:6379599|PMID:7504405|PMID:7911050|PMID:8395937|PMID:8411052|PMID:8807334|PMID:8875188|PMID:8878432|PMID:9100224|PMID:9452111 11763909 GLA galactosidase alpha gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11763909 GLA galactosidase alpha gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1344140 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 11763909 GLA galactosidase alpha gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1344140 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 11763909 GLA galactosidase alpha gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1344140 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10208848|PMID:10838196|PMID:10916280|PMID:11322659|PMID:11668641|PMID:11688386|PMID:12428061|PMID:15702404|PMID:15806320|PMID:16533976|PMID:16595074|PMID:16773563|PMID:17040996|PMID:17532296|PMID:17804462|PMID:18154965|PMID:18596132|PMID:20031620|PMID:20360539|PMID:20505683|PMID:21549080|PMID:21598360|PMID:2171331|PMID:22241068|PMID:22805550|PMID:23219219|PMID:23378663|PMID:23430526|PMID:23935525|PMID:24033266|PMID:24082139|PMID:24380807|PMID:24386359|PMID:24784157|PMID:25040344|PMID:25382311|PMID:25611685|PMID:25741868|PMID:27142856|PMID:27356758|PMID:27560961|PMID:27832731|PMID:28382085|PMID:28492532|PMID:28799081|PMID:29121657|PMID:29867742|PMID:29982630|PMID:30804731|PMID:31613176|PMID:31949022|PMID:31956509|PMID:31996269|PMID:32011328|PMID:32418857|PMID:8738659|PMID:8878432|PMID:9100224|PMID:9395081|PMID:9883849 11763909 GLA galactosidase alpha gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1344140 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10208848|PMID:10838196|PMID:10916280|PMID:11322659|PMID:11668641|PMID:11688386|PMID:12428061|PMID:15702404|PMID:15806320|PMID:16533976|PMID:16595074|PMID:16773563|PMID:17040996|PMID:17532296|PMID:17804462|PMID:18154965|PMID:18596132|PMID:20031620|PMID:20360539|PMID:20505683|PMID:21549080|PMID:21598360|PMID:2171331|PMID:22241068|PMID:22805550|PMID:23219219|PMID:23378663|PMID:23430526|PMID:23935525|PMID:24033266|PMID:24082139|PMID:24380807|PMID:24386359|PMID:24784157|PMID:25040344|PMID:25382311|PMID:25611685|PMID:25741868|PMID:26415523|PMID:27142856|PMID:27356758|PMID:27560961|PMID:27832731|PMID:27916943|PMID:28253518|PMID:28382085|PMID:28492532|PMID:28728877|PMID:28799081|PMID:29121657|PMID:29794742|PMID:29867742|PMID:29982630|PMID:30804731|PMID:31613176|PMID:31949022|PMID:31956509|PMID:31996269|PMID:32011328|PMID:32418857|PMID:33495303|PMID:8738659|PMID:8878432|PMID:9100224|PMID:9395081|PMID:9883849 11763909 GLA galactosidase alpha gene DOID:1184 nephrotic syndrome ISO RGD:1344140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:29127259 11763909 GLA galactosidase alpha gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1344140 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10208848|PMID:10666480|PMID:11531969|PMID:11668641|PMID:11828341|PMID:11914245|PMID:12175777|PMID:14635108|PMID:14680977|PMID:15003450|PMID:15091117|PMID:15702404|PMID:15712228|PMID:15806320|PMID:16232095|PMID:16754800|PMID:16773563|PMID:17555407|PMID:18057066|PMID:18154965|PMID:18297328|PMID:18849176|PMID:19373884|PMID:19621417|PMID:19823873|PMID:20031620|PMID:20110537|PMID:20122163|PMID:20360539|PMID:20464614|PMID:20821055|PMID:21062768|PMID:21092187|PMID:21229318|PMID:21517827|PMID:21598360|PMID:21683120|PMID:21972175|PMID:22226368|PMID:22437327|PMID:22682330|PMID:23109060|PMID:23219219|PMID:23332617|PMID:23393592|PMID:23430502|PMID:23568732|PMID:23677059|PMID:23818648|PMID:23935525|PMID:24033266|PMID:24386359|PMID:24582695|PMID:24829596|PMID:24980630|PMID:25078086|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26047621|PMID:26384850|PMID:26415523|PMID:26866599|PMID:26869469|PMID:27532257|PMID:27554049|PMID:27595546|PMID:27832731|PMID:27931613|PMID:28082092|PMID:28276057|PMID:28377241|PMID:28430823|PMID:28492532|PMID:28943383|PMID:28988177|PMID:29018006|PMID:29037082|PMID:29044343|PMID:29215092|PMID:29530533|PMID:29621274|PMID:29631605|PMID:29649853|PMID:29875425|PMID:30023289|PMID:30380558|PMID:30386727|PMID:30477121|PMID:30662066|PMID:31020198|PMID:31613176|PMID:31996269|PMID:32042454|PMID:32109691|PMID:32246457|PMID:32435590|PMID:33543778|PMID:7504405|PMID:7911050|PMID:8395937|PMID:8411052|PMID:8878432|PMID:9452111 11763909 GLA galactosidase alpha gene DOID:12849 autistic disorder ISO RGD:1344140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11763909 GLA galactosidase alpha gene DOID:14499 Fabry disease ISO RGD:1344140 D RGD:7240710 20180130 OMIM 11763909 GLA galactosidase alpha gene DOID:14499 Fabry disease ISO RGD:1344140 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum | ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease | ClinVar Annotator: match by term: Fabry's disease PMID:10090526|PMID:10200059|PMID:10208848|PMID:10360396|PMID:10649504|PMID:10666480|PMID:10838196|PMID:10916280|PMID:11076046|PMID:11137837|PMID:11145098|PMID:11179018|PMID:11295840|PMID:11322659|PMID:11531969|PMID:11531972|PMID:11668641|PMID:11688386|PMID:11804208|PMID:11828341|PMID:11889412|PMID:11914245|PMID:12068026|PMID:12175777|PMID:12207598|PMID:12359124|PMID:12428061|PMID:12429061|PMID:12480979|PMID:12512750|PMID:12668521|PMID:12694230|PMID:12778775|PMID:12786754|PMID:12796853|PMID:12911529|PMID:12920095|PMID:12938095|PMID:1315304|PMID:1315715|PMID:14635108|PMID:14680977|PMID:15003450|PMID:15091117|PMID:15100373|PMID:15162124|PMID:15339079|PMID:15353880|PMID:15492942|PMID:15611419|PMID:15695328|PMID:15702403|PMID:15702404|PMID:15712228|PMID:15713906|PMID:15776423|PMID:15806320|PMID:15924232|PMID:15947062|PMID:16148726|PMID:16199547|PMID:16215932|PMID:16224739|PMID:16232095|PMID:1650161|PMID:16533976|PMID:16595074|PMID:16626582|PMID:16720462|PMID:16754800|PMID:1677356|PMID:16773563|PMID:17040996|PMID:17057070|PMID:17206462|PMID:17224688|PMID:17437606|PMID:17452128|PMID:17532296|PMID:1753437|PMID:17555407|PMID:17576681|PMID:17656478|PMID:17713670|PMID:17804462|PMID:18003767|PMID:18023222|PMID:18046674|PMID:18057066|PMID:18154965|PMID:18154966|PMID:18205205|PMID:18287059|PMID:18297328|PMID:18387337|PMID:18424138|PMID:1846223|PMID:18472290|PMID:18555667|PMID:18596132|PMID:18633574|PMID:18698230|PMID:18724168|PMID:18830871|PMID:18849176|PMID:18974770|PMID:19265719|PMID:19285316|PMID:19287194|PMID:19320660|PMID:19373884|PMID:19387866|PMID:19621417|PMID:19763152|PMID:19823873|PMID:19941952|PMID:20022777|PMID:20031620|PMID:20110537|PMID:20122163|PMID:20139917|PMID:20300124|PMID:20307669|PMID:20360539|PMID:20367968|PMID:20464614|PMID:20498269|PMID:20505683|PMID:20615758|PMID:20628902|PMID:20629180|PMID:20716442|PMID:20821055|PMID:21062768|PMID:21092187|PMID:21138548|PMID:21229318|PMID:21333496|PMID:21353612|PMID:21517827|PMID:2152885|PMID:21549080|PMID:21587323|PMID:21598360|PMID:2160973|PMID:21683120|PMID:21700093|PMID:2171331|PMID:21804088|PMID:21890869|PMID:21896204|PMID:21946453|PMID:21972175|PMID:22004918|PMID:22063097|PMID:22078290|PMID:22176145|PMID:22205110|PMID:22226368|PMID:22227322|PMID:22241068|PMID:22305854|PMID:22336178|PMID:22378313|PMID:22406018|PMID:22437327|PMID:22472932|PMID:22498845|PMID:22551898|PMID:22563919|PMID:22682330|PMID:22695894|PMID:22773828|PMID:22805550|PMID:22874111|PMID:22880956|PMID:22905681|PMID:23109060|PMID:23146289|PMID:23210910|PMID:23219219|PMID:23248976|PMID:23305247|PMID:23306324|PMID:23307880|PMID:23332617|PMID:23378663|PMID:23387234|PMID:23393592|PMID:23430502|PMID:23430526|PMID:23430848|PMID:23430946|PMID:23465405|PMID:23474038|PMID:23537685|PMID:23566439|PMID:23568732|PMID:23591357|PMID:23608164|PMID:23677059|PMID:23691425|PMID:23724928|PMID:23756194|PMID:23818648|PMID:23826564|PMID:23867994|PMID:23913314|PMID:23922385|PMID:2393552|PMID:23935525|PMID:23980562|PMID:24015197|PMID:24033266|PMID:24082139|PMID:24094560|PMID:24236025|PMID:24334114|PMID:24365053|PMID:24380807|PMID:24386359|PMID:24395922|PMID:24503780|PMID:24582695|PMID:24613481|PMID:24626231|PMID:24626659|PMID:24661928|PMID:24718812|PMID:24784157|PMID:24829596|PMID:24830310|PMID:24980630|PMID:25026990|PMID:25040344|PMID:25078086|PMID:25149322|PMID:25179549|PMID:25319043|PMID:25382311|PMID:25386848|PMID:2539398|PMID:25409744|PMID:25439755|PMID:25468650|PMID:25468652|PMID:25487570|PMID:25511234|PMID:25525159|PMID:25531941|PMID:25596309|PMID:25611685|PMID:25619383|PMID:25637381|PMID:25640679|PMID:25655062|PMID:25663229|PMID:25741868|PMID:25750198|PMID:25762495|PMID:25772321|PMID:25795794|PMID:25835592|PMID:25900714|PMID:25955246|PMID:25974833|PMID:25977923|PMID:26044846|PMID:26047621|PMID:26070511|PMID:26083343|PMID:26179544|PMID:26238931|PMID:26252393|PMID:26272908|PMID:26297554|PMID:26298600|PMID:26305465|PMID:26333625|PMID:26384850|PMID:26415523|PMID:26424312|PMID:26456105|PMID:26490103|PMID:26563328|PMID:26593248 11763909 GLA galactosidase alpha gene DOID:14499 Fabry disease ISO RGD:1344140 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum | ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease | ClinVar Annotator: match by term: Fabry's disease PMID:26629990|PMID:26631895|PMID:26652600|PMID:26691501|PMID:26866599|PMID:26869469|PMID:26937405|PMID:26990548|PMID:27081853|PMID:27083555|PMID:27129690|PMID:27142856|PMID:27160240|PMID:27211852|PMID:27225851|PMID:27238910|PMID:27356758|PMID:27431810|PMID:2744760|PMID:27531472|PMID:27532257|PMID:27554049|PMID:27560961|PMID:27576502|PMID:27585509|PMID:27595546|PMID:27629047|PMID:27657681|PMID:27773586|PMID:27825144|PMID:27831900|PMID:27832731|PMID:27834756|PMID:27896102|PMID:27896103|PMID:27916943|PMID:27931613|PMID:27979989|PMID:27992580|PMID:28069318|PMID:28082092|PMID:28253518|PMID:28275245|PMID:28276057|PMID:28299312|PMID:28302345|PMID:28340691|PMID:28340804|PMID:28360401|PMID:2836863|PMID:28377241|PMID:28382085|PMID:28389313|PMID:28409012|PMID:28430823|PMID:28492532|PMID:28496025|PMID:28500230|PMID:28596458|PMID:28615118|PMID:28625968|PMID:28646478|PMID:28649509|PMID:28672034|PMID:28682471|PMID:28723748|PMID:28728877|PMID:28736719|PMID:28749998|PMID:28756410|PMID:28768754|PMID:28771489|PMID:28798024|PMID:28799081|PMID:28877708|PMID:28941980|PMID:28943383|PMID:28964554|PMID:28977874|PMID:28988177|PMID:29018006|PMID:29019163|PMID:29037082|PMID:29044343|PMID:29079200|PMID:29121657|PMID:29132836|PMID:29186537|PMID:29203563|PMID:29215092|PMID:29227985|PMID:29247119|PMID:29305833|PMID:29307789|PMID:29326878|PMID:29330335|PMID:29361493|PMID:29437868|PMID:29476735|PMID:29487688|PMID:29491734|PMID:29530533|PMID:29543226|PMID:29621274|PMID:29631605|PMID:29649853|PMID:29661900|PMID:29688992|PMID:29688998|PMID:29770213|PMID:29794742|PMID:29853467|PMID:29867742|PMID:29875425|PMID:29982630|PMID:30023289|PMID:30038331|PMID:30064518|PMID:30093709|PMID:30103270|PMID:30201457|PMID:30246259|PMID:30261035|PMID:30380558|PMID:30385651|PMID:30386727|PMID:30474596|PMID:30477121|PMID:30497360|PMID:30568064|PMID:30569317|PMID:30571380|PMID:30594474|PMID:30644091|PMID:30658922|PMID:30662066|PMID:30677769|PMID:30715505|PMID:30739116|PMID:30762167|PMID:30773290|PMID:30804731|PMID:30834538|PMID:30853972|PMID:30972193|PMID:30985853|PMID:30988410|PMID:31010832|PMID:31020198|PMID:31036492|PMID:31065389|PMID:31200018|PMID:31213654|PMID:31243236|PMID:31291414|PMID:31319156|PMID:31321922|PMID:31372342|PMID:31392112|PMID:31446751|PMID:31449323|PMID:31519519|PMID:31566927|PMID:31613176|PMID:31620600|PMID:31634893|PMID:31649303|PMID:31650418|PMID:31654629|PMID:31664448|PMID:31860127|PMID:31907047|PMID:31949022|PMID:31956509|PMID:31996269|PMID:32011328|PMID:32023956|PMID:32036093|PMID:32042454|PMID:32099817|PMID:32109691|PMID:32127409|PMID:32150461|PMID:32161151|PMID:32203225|PMID:32246457|PMID:32306159|PMID:32418857|PMID:32435590|PMID:32442237|PMID:32486191|PMID:32531501|PMID:32583479|PMID:32699723|PMID:32714835|PMID:32719972|PMID:32789421|PMID:32793709|PMID:32797665|PMID:32802993|PMID:32813676|PMID:32860008|PMID:32901917|PMID:32995357|PMID:33016649|PMID:33036343|PMID:33040545|PMID:33072983|PMID:33204599|PMID:33437642|PMID:33495303|PMID:33527381|PMID:33543778|PMID:33545641|PMID:33673806|PMID:33907643|PMID:34199132|PMID:34205365|PMID:34270679|PMID:34401344|PMID:34679477|PMID:34803097|PMID:34905550|PMID:36156392|PMID:6379599|PMID:7504405|PMID:7531540|PMID:7575533|PMID:7596372|PMID:7599642|PMID:7911050|PMID:7951217|PMID:8012363|PMID:8069316|PMID:8395937|PMID:8411052|PMID:8738659|PMID:8768754|PMID:8807334|PMID:8834244|PMID:8863162|PMID:8875188|PMID:8878432|PMID:8931708|PMID:8996967|PMID:9100224|PMID:9105656|PMID:9116979|PMID:9268104|PMID:9395081|PMID:9452068|PMID:9452090|PMID:9452111|PMID:9536098|PMID:9554750|PMID:9883849 11763909 GLA galactosidase alpha gene DOID:3211 lysosomal storage disease ISO RGD:1589721 D RGD:9068941 20211022 RGD PMID:29563343|REF_RGD_ID:150429980 11763909 GLA galactosidase alpha gene DOID:479 angiokeratoma ISO RGD:1344140 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19925601 11763909 GLA galactosidase alpha gene DOID:9000020 Fabry Disease, Cardiac Variant ISO RGD:1344140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fabry disease, cardiac variant PMID:10208848|PMID:10838196|PMID:10916280|PMID:11322659|PMID:11688386|PMID:11828341|PMID:12428061|PMID:1315715|PMID:15702404|PMID:16773563|PMID:17532296|PMID:17555407|PMID:1846223|PMID:19287194|PMID:19621417|PMID:19823873|PMID:20031620|PMID:20505683|PMID:20821055|PMID:21598360|PMID:2171331|PMID:22241068|PMID:22437327|PMID:23109060|PMID:23378663|PMID:23935525|PMID:24033266|PMID:24386359|PMID:24980630|PMID:25382311|PMID:25611685|PMID:25741868|PMID:26869469|PMID:27356758|PMID:27554049|PMID:27560961|PMID:27585509|PMID:27595546|PMID:27931613|PMID:28082092|PMID:28377241|PMID:28430823|PMID:28492532|PMID:28728877|PMID:29215092|PMID:29875425|PMID:30380558|PMID:30386727|PMID:30662066|PMID:30804731|PMID:31200018|PMID:31519519|PMID:32099817|PMID:7596372|PMID:8738659|PMID:9100224|PMID:9395081|PMID:9883849 11763909 GLA galactosidase alpha gene DOID:9000641 Pain ISO RGD:1589721 D RGD:9068941 20211022 RGD compared to wild type PMID:29563343|REF_RGD_ID:150429980 11763909 GLA galactosidase alpha gene DOID:9000641 Pain treatment ISO RGD:1589721 D RGD:9068941 20211022 RGD Allyl isothiocyanate (XCO:0000608) PMID:29563343|REF_RGD_ID:150429980 11763909 GLA galactosidase alpha gene DOID:9007096 Stroke ISO RGD:1344140 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:26415523|PMID:27916943|PMID:28253518|PMID:28492532|PMID:28728877|PMID:29794742|PMID:33495303 11763909 GLA galactosidase alpha gene DOID:9007820 Sudden Death ISO RGD:1344140 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:11668641|PMID:11914245|PMID:14635108|PMID:14680977|PMID:15806320|PMID:16232095|PMID:16754800|PMID:18057066|PMID:18154965|PMID:18297328|PMID:19373884|PMID:20110537|PMID:20122163|PMID:20360539|PMID:20464614|PMID:21229318|PMID:21517827|PMID:22226368|PMID:23219219|PMID:23393592|PMID:23430502|PMID:24033266|PMID:24829596|PMID:25078086|PMID:25637381|PMID:25741868|PMID:26415523|PMID:27832731|PMID:28276057|PMID:28492532|PMID:28988177|PMID:29037082|PMID:29044343|PMID:29530533|PMID:29631605|PMID:32109691|PMID:32246457|PMID:33543778|PMID:7504405|PMID:9452111 11763909 GLA galactosidase alpha gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1344140 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 11763920 B4GALNT2 beta-1,4-N-acetyl-galactosaminyltransferase 2 gene DOID:630 genetic disease ISO RGD:1354479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11763920 B4GALNT2 beta-1,4-N-acetyl-galactosaminyltransferase 2 gene DOID:9001500 Sd(a) POLYAGGLUTINATION SYNDROME ISO RGD:1354479 D RGD:7240710 20220209 OMIM 11763920 B4GALNT2 beta-1,4-N-acetyl-galactosaminyltransferase 2 gene DOID:9001500 Sd(a) POLYAGGLUTINATION SYNDROME ISO RGD:1354479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BLOOD GROUP, SID SYSTEM PMID:28492532|PMID:31367682 11763920 B4GALNT2 beta-1,4-N-acetyl-galactosaminyltransferase 2 gene DOID:9005170 polyagglutination ISO RGD:1354479 D RGD:7240710 20230505 OMIM 11763934 DCTN5 dynactin subunit 5 gene DOID:630 genetic disease ISO RGD:1603378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11763934 DCTN5 dynactin subunit 5 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1603378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:20852946|PMID:20927582 11763947 SMCO1 single-pass membrane protein with coiled-coil domains 1 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1604495 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 11763947 SMCO1 single-pass membrane protein with coiled-coil domains 1 gene DOID:12849 autistic disorder ISO RGD:1604495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11763947 SMCO1 single-pass membrane protein with coiled-coil domains 1 gene DOID:5419 schizophrenia ISO RGD:1604495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11763947 SMCO1 single-pass membrane protein with coiled-coil domains 1 gene DOID:630 genetic disease ISO RGD:1604495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11763959 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:0060180 colitis treatment ISO RGD:1306661 D RGD:9068941 20200609 RGD PMID:17543437|REF_RGD_ID:2298659 11763959 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:0060647 fetal encasement syndrome ISO RGD:1315401 D RGD:7240710 20180130 OMIM 11763959 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:0060647 fetal encasement syndrome ISO RGD:1315401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cocoon syndrome PMID:20961246 11763959 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:0080006 bone development disease ISO RGD:1315401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10346820 11763959 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:10283 prostate cancer ISO RGD:1315401 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:prostate gland PMID:26435478|REF_RGD_ID:13504773 11763959 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:12849 autistic disorder ISO RGD:1315401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20957522 11763959 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:219 colon cancer ISO RGD:1315401 D RGD:9068941 20220811 RGD protein:increased expression:colon (human) PMID:16774932|REF_RGD_ID:153305944 11763959 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:1315402 D RGD:9068941 20200609 RGD PMID:26379052|REF_RGD_ID:13504774 11763959 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:2841 asthma ISO RGD:1315402 D RGD:9068941 20200609 RGD PMID:21496385|REF_RGD_ID:5133703 11763959 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:3571 liver cancer ISO RGD:1315401 D RGD:9068941 20220811 RGD human cells in mouse model PMID:27367027|REF_RGD_ID:153305911 11763959 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:4159 skin cancer ISO RGD:1315402 D RGD:9068941 20200609 RGD PMID:21755017|REF_RGD_ID:13504775 11763959 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:630 genetic disease ISO RGD:1315401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11763959 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:674 cleft palate ISO RGD:1315401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10346820 11763959 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:767 muscular atrophy treatment ISO RGD:1306661 D RGD:9068941 20200609 RGD PMID:18827022|REF_RGD_ID:7495773 11763959 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:874 bacterial pneumonia ISO RGD:1315402 D RGD:9068941 20200609 RGD PMID:18643924|REF_RGD_ID:5133701 11763959 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9000965 Neoplasm Metastasis ISO RGD:1315402 D RGD:9068941 20200609 RGD associated with prostate adenocarcinoma PMID:17377533|REF_RGD_ID:2298657 11763959 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9001946 Skin Abnormalities ISO RGD:1315401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10195895|PMID:10195896|PMID:10346820 11763959 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9001984 Fetal Diseases ISO RGD:1315401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10195895|PMID:10195896|PMID:10346820|PMID:20961246 11763959 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315402 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18317887|REF_RGD_ID:2291908 11763959 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9005372 Inflammation ISO RGD:1315402 D RGD:9068941 20200609 RGD PMID:20472709|REF_RGD_ID:5133702 11763959 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9006294 Congenital Limb Deformities ISO RGD:1315401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10195895|PMID:10195896|PMID:10346820|PMID:20961246 11763959 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9006857 Bartsocas-Papas Syndrome 2 ISO RGD:1315401 D RGD:7240710 20210616 OMIM 11763959 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9006857 Bartsocas-Papas Syndrome 2 ISO RGD:1315401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bartsocas-Papas syndrome 2 PMID:25691407 11763959 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9007653 Multiple Abnormalities ISO RGD:1315401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20961246 11763996 CHAC2 ChaC glutathione specific gamma-glutamylcyclotransferase 2 gene DOID:630 genetic disease ISO RGD:1606619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764008 NCKAP1L NCK associated protein 1 like gene DOID:0112015 immunodeficiency 72 ISO RGD:1323803 D RGD:7240710 20200902 OMIM 11764008 NCKAP1L NCK associated protein 1 like gene DOID:0112015 immunodeficiency 72 ISO RGD:1323803 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 72 with autoinflammation PMID:25741868|PMID:28492532|PMID:32646852|PMID:32647003|PMID:32766723 11764008 NCKAP1L NCK associated protein 1 like gene DOID:630 genetic disease ISO RGD:1323803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11764008 NCKAP1L NCK associated protein 1 like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11764072 UFL1 UFM1 specific ligase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1319587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11764072 UFL1 UFM1 specific ligase 1 gene DOID:630 genetic disease ISO RGD:1319587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764099 FBXO15 F-box protein 15 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1321642 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11764099 FBXO15 F-box protein 15 gene DOID:630 genetic disease ISO RGD:1321642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764099 FBXO15 F-box protein 15 gene DOID:6420 pulmonary valve stenosis ISO RGD:1321642 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 11764099 FBXO15 F-box protein 15 gene DOID:8445 intestinal volvulus ISO RGD:1321642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11764099 FBXO15 F-box protein 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11764099 FBXO15 F-box protein 15 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1321642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11764113 BMF Bcl2 modifying factor gene DOID:2717 Bloom syndrome ISO RGD:1342866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11764113 BMF Bcl2 modifying factor gene DOID:630 genetic disease ISO RGD:1342866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764113 BMF Bcl2 modifying factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11764113 BMF Bcl2 modifying factor gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1342866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770605 11764113 BMF Bcl2 modifying factor gene DOID:9256 colorectal cancer ISO RGD:1342866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11764132 CSMD1 CUB and Sushi multiple domains 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1312937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:28492532|PMID:35351988 11764132 CSMD1 CUB and Sushi multiple domains 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1312937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545|PMID:30504930 11764132 CSMD1 CUB and Sushi multiple domains 1 gene DOID:12849 autistic disorder ISO RGD:1312937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11764132 CSMD1 CUB and Sushi multiple domains 1 gene DOID:303 substance-related disorder ISO RGD:1312937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11764132 CSMD1 CUB and Sushi multiple domains 1 gene DOID:5419 schizophrenia ISO RGD:1312937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11764132 CSMD1 CUB and Sushi multiple domains 1 gene DOID:630 genetic disease ISO RGD:1312937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764132 CSMD1 CUB and Sushi multiple domains 1 gene DOID:670 amphetamine abuse ISO RGD:1312937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11764132 CSMD1 CUB and Sushi multiple domains 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1312937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11764132 CSMD1 CUB and Sushi multiple domains 1 gene DOID:8893 psoriasis ISO RGD:1312937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953187 11764183 CDT1 chromatin licensing and DNA replication factor 1 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1604278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:11992493|PMID:21358632|PMID:22333897|PMID:23023959|PMID:24033266|PMID:25741868 11764183 CDT1 chromatin licensing and DNA replication factor 1 gene DOID:0060350 adenine phosphoribosyltransferase deficiency ISO RGD:1604278 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency PMID:25741868|PMID:28492532 11764183 CDT1 chromatin licensing and DNA replication factor 1 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1604278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 11764183 CDT1 chromatin licensing and DNA replication factor 1 gene DOID:0070290 primary autosomal recessive microcephaly 6 ISO RGD:1604278 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly 6, primary, autosomal recessive PMID:25741868 11764183 CDT1 chromatin licensing and DNA replication factor 1 gene DOID:0080515 Meier-Gorlin syndrome 4 ISO RGD:1604278 D RGD:7240710 20190424 OMIM 11764183 CDT1 chromatin licensing and DNA replication factor 1 gene DOID:0080515 Meier-Gorlin syndrome 4 ISO RGD:1604278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 4 PMID:11477602|PMID:11992493|PMID:16199547|PMID:18414213|PMID:21358631|PMID:21358632|PMID:22333897|PMID:23023959|PMID:24033266|PMID:25741868|PMID:28492532|PMID:33338304 11764183 CDT1 chromatin licensing and DNA replication factor 1 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1604278 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11764183 CDT1 chromatin licensing and DNA replication factor 1 gene DOID:0111391 mucopolysaccharidosis IVA ISO RGD:1604278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A PMID:25545067|PMID:25741868|PMID:28492532|PMID:34387910 11764183 CDT1 chromatin licensing and DNA replication factor 1 gene DOID:14780 KBG syndrome ISO RGD:1604278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31690835 11764183 CDT1 chromatin licensing and DNA replication factor 1 gene DOID:630 genetic disease ISO RGD:1604278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11764183 CDT1 chromatin licensing and DNA replication factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1604278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11764183 CDT1 chromatin licensing and DNA replication factor 1 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1604278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 11764183 CDT1 chromatin licensing and DNA replication factor 1 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1604278 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35048507 11764196 ANKS4B ankyrin repeat and sterile alpha motif domain containing 4B gene DOID:630 genetic disease ISO RGD:1606413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764203 LIMK1 LIM domain kinase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 11764203 LIMK1 LIM domain kinase 1 gene DOID:10923 sickle cell anemia ISO RGD:732406 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 11764203 LIMK1 LIM domain kinase 1 gene DOID:12849 autistic disorder ISO RGD:732406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11764203 LIMK1 LIM domain kinase 1 gene DOID:1928 Williams-Beuren syndrome ISO RGD:732406 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 11764203 LIMK1 LIM domain kinase 1 gene DOID:1929 supravalvular aortic stenosis ISO RGD:732406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis PMID:10627943|PMID:11175284|PMID:25205790|PMID:28277377|PMID:28492532|PMID:7557968|PMID:7611295|PMID:7726172|PMID:8968740 11764203 LIMK1 LIM domain kinase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11764203 LIMK1 LIM domain kinase 1 gene DOID:5419 schizophrenia ISO RGD:732406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11764203 LIMK1 LIM domain kinase 1 gene DOID:630 genetic disease ISO RGD:732406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11764203 LIMK1 LIM domain kinase 1 gene DOID:8445 intestinal volvulus ISO RGD:732406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11764203 LIMK1 LIM domain kinase 1 gene DOID:9002189 High Myopia ISO RGD:732406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11764203 LIMK1 LIM domain kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11764203 LIMK1 LIM domain kinase 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:732406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11764222 LYSMD3 LysM domain containing 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606178 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11764222 LYSMD3 LysM domain containing 3 gene DOID:630 genetic disease ISO RGD:1606178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764222 LYSMD3 LysM domain containing 3 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1606178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 11764222 LYSMD3 LysM domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11764222 LYSMD3 LysM domain containing 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606178 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11764244 ACRBP acrosin binding protein gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1344974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11764244 ACRBP acrosin binding protein gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1344974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11764244 ACRBP acrosin binding protein gene DOID:0111621 Temtamy syndrome ISO RGD:1344974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11764244 ACRBP acrosin binding protein gene DOID:630 genetic disease ISO RGD:1344974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764244 ACRBP acrosin binding protein gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1344974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11764244 ACRBP acrosin binding protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11764244 ACRBP acrosin binding protein gene DOID:9007502 Brain Neoplasms ISO RGD:1344974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of brain 11764244 ACRBP acrosin binding protein gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1344974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11764266 LOC100973878 olfactory receptor 52E2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1347048 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11764266 LOC100973878 olfactory receptor 52E2 gene DOID:630 genetic disease ISO RGD:1347048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764269 TMEM97 transmembrane protein 97 gene DOID:630 genetic disease ISO RGD:1607046 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764282 LOC100974206 cytochrome c oxidase assembly factor 4 homolog, mitochondrial gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1602710 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11764282 LOC100974206 cytochrome c oxidase assembly factor 4 homolog, mitochondrial gene DOID:1059 intellectual disability ISO RGD:1602710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11764282 LOC100974206 cytochrome c oxidase assembly factor 4 homolog, mitochondrial gene DOID:630 genetic disease ISO RGD:1602710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764296 DPRX divergent-paired related homeobox gene DOID:630 genetic disease ISO RGD:1604883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764296 DPRX divergent-paired related homeobox gene DOID:9007661 Dwarfism ISO RGD:1604883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11764303 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:0050902 medulloblastoma ISO RGD:1344499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:26619011 11764303 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:0060464 Feingold syndrome ISO RGD:1344499 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum | ClinVar Annotator: match by term: MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE | ClinVar Annotator: match by term: MMT syndrome PMID:15821734|PMID:16906565|PMID:18470948|PMID:18671284|PMID:20301770|PMID:21224895|PMID:25741868|PMID:28492532|PMID:30573562|PMID:30655312 11764303 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1344499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11764303 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:1059 intellectual disability ISO RGD:1344499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11764303 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:13938 amenorrhea ISO RGD:1344499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11764303 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:1657 ventricular septal defect ISO RGD:1344499 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:25741868 11764303 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:2154 nephroblastoma ISO RGD:1344499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 11764303 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:2513 basal cell carcinoma ISO RGD:1344499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 11764303 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:3068 glioblastoma ISO RGD:1344499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:26619011 11764303 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:363 uterine cancer ISO RGD:1344499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:26619011 11764303 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1344499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:26619011 11764303 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:5419 schizophrenia ISO RGD:1344499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11764303 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1344499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28671688 11764303 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:5723 optic atrophy ISO RGD:1344499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:32581362 11764303 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:630 genetic disease ISO RGD:1344499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15821734|PMID:16906565|PMID:18470948|PMID:18671284|PMID:21224895|PMID:28492532 11764303 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:6406 double outlet right ventricle ISO RGD:1344499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Double outlet right ventricle PMID:25741868 11764303 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:769 neuroblastoma ISO RGD:1344499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26619011 11764303 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:9000674 Agenesis of Gallbladder ISO RGD:1344499 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gallbladder, agenesis of PMID:25741868 11764303 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:9002221 Hyperplasia ISO RGD:1344499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25174395 11764303 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:9004814 Chromosome Aberrations ISO RGD:1344499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25174395 11764303 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:9004844 Feingold Syndrome 1 ISO RGD:1344499 D RGD:7240710 20180704 OMIM 11764303 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:9005749 Necrosis ISO RGD:1344499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21214410 11764303 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1344499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22286764 11764314 SLC25A35 solute carrier family 25 member 35 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1605787 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11764314 SLC25A35 solute carrier family 25 member 35 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1605787 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22431104|PMID:23172776|PMID:28492532 11764314 SLC25A35 solute carrier family 25 member 35 gene DOID:2729 dyskeratosis congenita ISO RGD:1605787 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11764314 SLC25A35 solute carrier family 25 member 35 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1605787 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 11764314 SLC25A35 solute carrier family 25 member 35 gene DOID:630 genetic disease ISO RGD:1605787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11764314 SLC25A35 solute carrier family 25 member 35 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1605787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:17576681|PMID:21447824|PMID:22010171|PMID:25741868|PMID:26903377|PMID:28492532|PMID:30282806|PMID:9536098 11764325 WDR13 WD repeat domain 13 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11764325 WDR13 WD repeat domain 13 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1347566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 11764325 WDR13 WD repeat domain 13 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1347566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11764325 WDR13 WD repeat domain 13 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1347566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11764325 WDR13 WD repeat domain 13 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1347566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11764325 WDR13 WD repeat domain 13 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1347566 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 11764325 WDR13 WD repeat domain 13 gene DOID:10485 esophageal atresia ISO RGD:1347566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 11764325 WDR13 WD repeat domain 13 gene DOID:12849 autistic disorder ISO RGD:1347566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11764325 WDR13 WD repeat domain 13 gene DOID:630 genetic disease ISO RGD:1347566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764348 ZIC5 Zic family member 5 gene DOID:0080074 neural tube defect ISO RGD:1320899 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:15136147 11764348 ZIC5 Zic family member 5 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1320899 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 11764348 ZIC5 Zic family member 5 gene DOID:14701 propionic acidemia ISO RGD:1320899 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 11764348 ZIC5 Zic family member 5 gene DOID:4621 holoprosencephaly ISO RGD:1320899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 11764348 ZIC5 Zic family member 5 gene DOID:630 genetic disease ISO RGD:1320899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764348 ZIC5 Zic family member 5 gene DOID:684 hepatocellular carcinoma ISO RGD:1320899 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11764348 ZIC5 Zic family member 5 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1320899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11764348 ZIC5 Zic family member 5 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320899 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:15136147 11764354 TMEM234 transmembrane protein 234 gene DOID:630 genetic disease ISO RGD:1606787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764390 TATDN1 TatD DNase domain containing 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1313148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11764390 TATDN1 TatD DNase domain containing 1 gene DOID:630 genetic disease ISO RGD:1313148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764390 TATDN1 TatD DNase domain containing 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1313148 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11764419 LOC100979926 endogenous retrovirus group 3 member 1 Env polyprotein gene DOID:630 genetic disease ISO RGD:1343353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764425 VCPKMT valosin containing protein lysine methyltransferase gene DOID:0050574 L-2-hydroxyglutaric aciduria ISO RGD:1314724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria PMID:15385440 11764425 VCPKMT valosin containing protein lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1314724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764425 VCPKMT valosin containing protein lysine methyltransferase gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1314724 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11764443 GLI1 GLI family zinc finger 1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1344225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625222 11764443 GLI1 GLI family zinc finger 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:621673 D RGD:9068941 20211105 RGD PMID:30537251|REF_RGD_ID:150520178 11764443 GLI1 GLI family zinc finger 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1344225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23867347 11764443 GLI1 GLI family zinc finger 1 gene DOID:0080016 spina bifida ISO RGD:1344225 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:26446020|REF_RGD_ID:12801432 11764443 GLI1 GLI family zinc finger 1 gene DOID:0080600 COVID-19 ISO RGD:1344225 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11764443 GLI1 GLI family zinc finger 1 gene DOID:10283 prostate cancer ISO RGD:1344225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11764443 GLI1 GLI family zinc finger 1 gene DOID:11054 urinary bladder cancer ISO RGD:1344225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20179202 11764443 GLI1 GLI family zinc finger 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1344225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:29127258 11764443 GLI1 GLI family zinc finger 1 gene DOID:2377 multiple sclerosis ISO RGD:1344225 D RGD:9068941 20200609 RGD PMID:18991353|REF_RGD_ID:12801440 11764443 GLI1 GLI family zinc finger 1 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1344225 D RGD:9068941 20200609 RGD PMID:15308259|REF_RGD_ID:12801443 11764443 GLI1 GLI family zinc finger 1 gene DOID:3121 gallbladder cancer disease_progression ISO RGD:1344225 D RGD:9068941 20220210 RGD DNA:SNP::rs2228226(human) PMID:26715268|REF_RGD_ID:151356500 11764443 GLI1 GLI family zinc finger 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1344225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11764443 GLI1 GLI family zinc finger 1 gene DOID:5593 gastric papillary adenocarcinoma ISO RGD:1344225 D RGD:9068941 20210813 RGD protein:increased expression:stomach PMID:17259107|REF_RGD_ID:150340552 11764443 GLI1 GLI family zinc finger 1 gene DOID:574 peripheral nervous system disease ISO RGD:1344225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 11764443 GLI1 GLI family zinc finger 1 gene DOID:630 genetic disease ISO RGD:1344225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764443 GLI1 GLI family zinc finger 1 gene DOID:6595 gastric tubular adenocarcinoma ISO RGD:1344225 D RGD:9068941 20210813 RGD protein:increased expression:stomach PMID:17259107|REF_RGD_ID:150340552 11764443 GLI1 GLI family zinc finger 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1344225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26189965 11764443 GLI1 GLI family zinc finger 1 gene DOID:6846 familial melanoma ISO RGD:1344225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 11764443 GLI1 GLI family zinc finger 1 gene DOID:9000392 Fluoride Poisoning ISO RGD:621673 D RGD:9068941 20200609 RGD PMID:25623978|REF_RGD_ID:12879410 11764443 GLI1 GLI family zinc finger 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:621673 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:23933201|REF_RGD_ID:12859044 11764443 GLI1 GLI family zinc finger 1 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:621673 D RGD:9068941 20221201 RGD PMID:21063852|REF_RGD_ID:12859045 11764443 GLI1 GLI family zinc finger 1 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:621673 D RGD:9068941 20200609 RGD PMID:25821409|REF_RGD_ID:12879456 11764443 GLI1 GLI family zinc finger 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1550011 D RGD:9068941 20200609 RGD PMID:18991353|REF_RGD_ID:12801440 11764443 GLI1 GLI family zinc finger 1 gene DOID:9004978 Preaxial Polydactyly I ISO RGD:1344225 D RGD:7240710 20190529 OMIM 11764443 GLI1 GLI family zinc finger 1 gene DOID:9004978 Preaxial Polydactyly I ISO RGD:1344225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FROMONT ANOMALY | ClinVar Annotator: match by term: Polydactyly, preaxial I PMID:25741868|PMID:30620395 11764443 GLI1 GLI family zinc finger 1 gene DOID:9005329 Preaxial Polydactyly ISO RGD:1344225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: POLYDACTYLY, PREAXIAL PMID:25741868|PMID:30620395 11764443 GLI1 GLI family zinc finger 1 gene DOID:9005729 Chronic Experimental Pancreatitis ISO RGD:621673 D RGD:9068941 20200609 RGD PMID:24782623|REF_RGD_ID:12879405 11764443 GLI1 GLI family zinc finger 1 gene DOID:9008857 Postaxial Polydactyly, Type A8 ISO RGD:1344225 D RGD:7240710 20190315 OMIM 11764443 GLI1 GLI family zinc finger 1 gene DOID:9008857 Postaxial Polydactyly, Type A8 ISO RGD:1344225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type A8 PMID:25741868|PMID:28973407 11764443 GLI1 GLI family zinc finger 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11764443 GLI1 GLI family zinc finger 1 gene DOID:9256 colorectal cancer ISO RGD:1344225 D RGD:9068941 20211105 RGD PMID:22901214|REF_RGD_ID:150520174 11764443 GLI1 GLI family zinc finger 1 gene DOID:9282 ocular hypertension ISO RGD:621673 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retinal ganglion cell PMID:20071678|REF_RGD_ID:2324982 11764468 IRX5 iroquois homeobox 5 gene DOID:0050642 hypochromic microcytic anemia ISO RGD:1320389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 11764468 IRX5 iroquois homeobox 5 gene DOID:0050777 Joubert syndrome ISO RGD:1320389 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:17558409|PMID:28492532 11764468 IRX5 iroquois homeobox 5 gene DOID:0081044 frontonasal dysplasia ISO RGD:1320389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 11764468 IRX5 iroquois homeobox 5 gene DOID:10003 sensorineural hearing loss ISO RGD:1320389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 11764468 IRX5 iroquois homeobox 5 gene DOID:11830 myopia ISO RGD:1320389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 11764468 IRX5 iroquois homeobox 5 gene DOID:13714 anodontia ISO RGD:1320389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 11764468 IRX5 iroquois homeobox 5 gene DOID:1400 lacrimal apparatus disease ISO RGD:1320389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 11764468 IRX5 iroquois homeobox 5 gene DOID:1682 congenital heart disease ISO RGD:1320389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 11764468 IRX5 iroquois homeobox 5 gene DOID:630 genetic disease ISO RGD:1320389 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11764468 IRX5 iroquois homeobox 5 gene DOID:850 lung disease ISO RGD:1320389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21238641 11764468 IRX5 iroquois homeobox 5 gene DOID:9002589 Bone Fractures ISO RGD:1320389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 11764468 IRX5 iroquois homeobox 5 gene DOID:9006817 Hamamy Syndrome ISO RGD:1320389 D RGD:7240710 20180130 OMIM 11764468 IRX5 iroquois homeobox 5 gene DOID:9006817 Hamamy Syndrome ISO RGD:1320389 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hamamy syndrome PMID:17230486|PMID:22581230|PMID:25741868|PMID:28492532|PMID:34899143 11764468 IRX5 iroquois homeobox 5 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 11764476 PLCD3 phospholipase C delta 3 gene DOID:630 genetic disease ISO RGD:1322076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764499 ROGDI rogdi atypical leucine zipper gene DOID:0060041 autism spectrum disorder ISO RGD:1603007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31209396 11764499 ROGDI rogdi atypical leucine zipper gene DOID:0080600 COVID-19 ISO RGD:1603007 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11764499 ROGDI rogdi atypical leucine zipper gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1603007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11764499 ROGDI rogdi atypical leucine zipper gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1603007 D RGD:7240710 20180130 OMIM 11764499 ROGDI rogdi atypical leucine zipper gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1603007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:16199547|PMID:16411202|PMID:17576681|PMID:22424600|PMID:22482807|PMID:23086778|PMID:24630287|PMID:25565929|PMID:25741868|PMID:26467025|PMID:28492532|PMID:3236364|PMID:4372200|PMID:8133980|PMID:9536098 11764499 ROGDI rogdi atypical leucine zipper gene DOID:1826 epilepsy ISO RGD:1603007 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:28492532 11764499 ROGDI rogdi atypical leucine zipper gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603007 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11764499 ROGDI rogdi atypical leucine zipper gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1603007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation PMID:12114483|PMID:17855048|PMID:25805166|PMID:27257017|PMID:28492532 11764499 ROGDI rogdi atypical leucine zipper gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1603007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 11764499 ROGDI rogdi atypical leucine zipper gene DOID:630 genetic disease ISO RGD:1603007 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11764514 OTUB1 OTU deubiquitinase, ubiquitin aldehyde binding 1 gene DOID:0080162 lupus nephritis ISO RGD:1322723 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:22279542|REF_RGD_ID:7175260 11764514 OTUB1 OTU deubiquitinase, ubiquitin aldehyde binding 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1322723 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11764514 OTUB1 OTU deubiquitinase, ubiquitin aldehyde binding 1 gene DOID:1059 intellectual disability ISO RGD:1322723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11764514 OTUB1 OTU deubiquitinase, ubiquitin aldehyde binding 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1322723 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:22279542|REF_RGD_ID:7175260 11764514 OTUB1 OTU deubiquitinase, ubiquitin aldehyde binding 1 gene DOID:3070 high grade glioma ISO RGD:1322723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11764514 OTUB1 OTU deubiquitinase, ubiquitin aldehyde binding 1 gene DOID:630 genetic disease ISO RGD:1322723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764535 LOC100986707 cytochrome c oxidase subunit 7B, mitochondrial gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11764535 LOC100986707 cytochrome c oxidase subunit 7B, mitochondrial gene DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ISO RGD:1344241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia PMID:24550228|PMID:28492532 11764535 LOC100986707 cytochrome c oxidase subunit 7B, mitochondrial gene DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ISO RGD:1344241 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome PMID:28492532 11764535 LOC100986707 cytochrome c oxidase subunit 7B, mitochondrial gene DOID:0111808 linear skin defects with multiple congenital anomalies 1 ISO RGD:1344241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11764535 LOC100986707 cytochrome c oxidase subunit 7B, mitochondrial gene DOID:0111877 linear skin defects with multiple congenital anomalies 2 ISO RGD:1344241 D RGD:7240710 20180130 OMIM 11764535 LOC100986707 cytochrome c oxidase subunit 7B, mitochondrial gene DOID:0111877 linear skin defects with multiple congenital anomalies 2 ISO RGD:1344241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 2 PMID:23122588|PMID:25741868|PMID:9747372 11764535 LOC100986707 cytochrome c oxidase subunit 7B, mitochondrial gene DOID:12849 autistic disorder ISO RGD:1344241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11764535 LOC100986707 cytochrome c oxidase subunit 7B, mitochondrial gene DOID:1838 Menkes disease ISO RGD:1344241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Menkes kinky-hair syndrome PMID:28492532 11764543 FIZ1 FLT3 interacting zinc finger 1 gene DOID:630 genetic disease ISO RGD:1605920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764551 TMEM132C transmembrane protein 132C gene DOID:11372 megacolon ISO RGD:1601730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11764551 TMEM132C transmembrane protein 132C gene DOID:630 genetic disease ISO RGD:1601730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764563 FGD5 FYVE, RhoGEF and PH domain containing 5 gene DOID:0060417 3p deletion syndrome ISO RGD:1313708 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 11764563 FGD5 FYVE, RhoGEF and PH domain containing 5 gene DOID:630 genetic disease ISO RGD:1313708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764563 FGD5 FYVE, RhoGEF and PH domain containing 5 gene DOID:9000217 Stomach Neoplasms ISO RGD:1313708 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34427968 11764563 FGD5 FYVE, RhoGEF and PH domain containing 5 gene DOID:9000918 Disease Progression ISO RGD:1313708 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34427968 11764563 FGD5 FYVE, RhoGEF and PH domain containing 5 gene DOID:9008939 Breast Neoplasms ISO RGD:1313708 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 11764594 LOC100989822 sperm protein associated with the nucleus on the X chromosome N4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11764594 LOC100989822 sperm protein associated with the nucleus on the X chromosome N4 gene DOID:12849 autistic disorder ISO RGD:1604672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11764594 LOC100989822 sperm protein associated with the nucleus on the X chromosome N4 gene DOID:630 genetic disease ISO RGD:1604672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764600 FAM221A family with sequence similarity 221 member A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11764600 FAM221A family with sequence similarity 221 member A gene DOID:630 genetic disease ISO RGD:1604475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764627 CLCN3 chloride voltage-gated channel 3 gene DOID:0110731 neuronal ceroid lipofuscinosis 3 ISO RGD:730987 D RGD:9068941 20220825 MouseDO OMIM:204200 11764627 CLCN3 chloride voltage-gated channel 3 gene DOID:10003 sensorineural hearing loss ISO RGD:730986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27876815 11764627 CLCN3 chloride voltage-gated channel 3 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:730987 D RGD:9068941 20200609 RGD PMID:12059962|REF_RGD_ID:734783 11764627 CLCN3 chloride voltage-gated channel 3 gene DOID:3070 high grade glioma ISO RGD:730986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12843258 11764627 CLCN3 chloride voltage-gated channel 3 gene DOID:630 genetic disease ISO RGD:730986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17652080|PMID:26342074 11764627 CLCN3 chloride voltage-gated channel 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:730986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11764627 CLCN3 chloride voltage-gated channel 3 gene DOID:9000918 Disease Progression ISO RGD:730986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11764627 CLCN3 chloride voltage-gated channel 3 gene DOID:9001042 Neurodevelopmental Disorder with Seizures and Brain Abnormalities ISO RGD:730986 D RGD:7240710 20221123 OMIM 11764627 CLCN3 chloride voltage-gated channel 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:24033266|PMID:25741868|PMID:34186028 11764627 CLCN3 chloride voltage-gated channel 3 gene DOID:9005415 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES ISO RGD:730986 D RGD:7240710 20211027 OMIM 11764627 CLCN3 chloride voltage-gated channel 3 gene DOID:9005415 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES ISO RGD:730986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and brain abnormalities PMID:24033266|PMID:25741868|PMID:34186028 11764646 LOC100991737 adhesion G-protein coupled receptor F2 gene DOID:630 genetic disease ISO RGD:1343922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764660 GFRA1 GDNF family receptor alpha 1 gene DOID:0080855 Parkinsonism ISO RGD:2681 D RGD:9068941 20200609 RGD PMID:21865882|REF_RGD_ID:6218962 11764660 GFRA1 GDNF family receptor alpha 1 gene DOID:0080855 Parkinsonism ISO RGD:2681 D RGD:9068941 20200609 RGD mRNA:altered expression:brain PMID:12210101|REF_RGD_ID:6218972 11764660 GFRA1 GDNF family receptor alpha 1 gene DOID:10487 Hirschsprung's disease ISO RGD:733164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 11764660 GFRA1 GDNF family receptor alpha 1 gene DOID:11446 sciatic neuropathy ISO RGD:2681 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord dorsal horn PMID:20533358|REF_RGD_ID:6218963 11764660 GFRA1 GDNF family receptor alpha 1 gene DOID:2316 brain ischemia ISO RGD:2681 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:10407114|REF_RGD_ID:6218981 11764660 GFRA1 GDNF family receptor alpha 1 gene DOID:3049 Churg-Strauss syndrome ISO RGD:733164 D RGD:9068941 20200609 RGD PMID:9853108|REF_RGD_ID:6218983 11764660 GFRA1 GDNF family receptor alpha 1 gene DOID:630 genetic disease ISO RGD:733164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764660 GFRA1 GDNF family receptor alpha 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11764660 GFRA1 GDNF family receptor alpha 1 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:2681 D RGD:9068941 20200609 RGD mRNA:increased expression:hypoglossal XII nerve PMID:10407179|REF_RGD_ID:6218979 11764660 GFRA1 GDNF family receptor alpha 1 gene DOID:9002211 Hyperalgesia ISO RGD:2681 D RGD:9068941 20200609 RGD PMID:16464682|REF_RGD_ID:6218969 11764660 GFRA1 GDNF family receptor alpha 1 gene DOID:9004001 Facial Nerve Injuries ISO RGD:2681 D RGD:9068941 20200609 RGD mRNA:increased expression:facial VII nucleus PMID:9582449|REF_RGD_ID:6218984 11764660 GFRA1 GDNF family receptor alpha 1 gene DOID:9005365 Renal Hypodysplasia/Aplasia 4 ISO RGD:733164 D RGD:7240710 20220608 OMIM 11764660 GFRA1 GDNF family receptor alpha 1 gene DOID:9005365 Renal Hypodysplasia/Aplasia 4 ISO RGD:733164 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 4 PMID:25741868|PMID:33020172|PMID:34737117 11764660 GFRA1 GDNF family receptor alpha 1 gene DOID:9005968 Neuralgia ISO RGD:733164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18400411 11764660 GFRA1 GDNF family receptor alpha 1 gene DOID:9007096 Stroke ISO RGD:2681 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:11476594|REF_RGD_ID:6218974 11764660 GFRA1 GDNF family receptor alpha 1 gene DOID:9008091 Optic Nerve Injuries ISO RGD:2681 D RGD:9068941 20200609 RGD PMID:15144875|REF_RGD_ID:6218970 11764660 GFRA1 GDNF family receptor alpha 1 gene DOID:9810 polyarteritis nodosa ISO RGD:733164 D RGD:9068941 20200609 RGD PMID:9853108|REF_RGD_ID:6218983 11764686 SLC31A2 solute carrier family 31 member 2 gene DOID:630 genetic disease ISO RGD:1317461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764705 GARIN1A golgi associated RAB2 interactor 1A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11764705 GARIN1A golgi associated RAB2 interactor 1A gene DOID:630 genetic disease ISO RGD:1604702 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764749 A2M alpha-2-macroglobulin gene DOID:0050868 hepatocellular adenoma ISO RGD:2004 D RGD:9068941 20230427 RGD mRNA,protein:increased expression:liver: PMID:15509519|REF_RGD_ID:1358261 11764749 A2M alpha-2-macroglobulin gene DOID:0050868 hepatocellular adenoma ISO RGD:735738 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:15509519 11764749 A2M alpha-2-macroglobulin gene DOID:0080600 COVID-19 ISO RGD:735738 D RGD:9068941 20230427 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11764749 A2M alpha-2-macroglobulin gene DOID:0080600 COVID-19 severity ISO RGD:735738 D RGD:9068941 20230427 RGD DNA:SNPs: : PMID:32747830|REF_RGD_ID:38500238 11764749 A2M alpha-2-macroglobulin gene DOID:10113 trypanosomiasis ISO RGD:2004 D RGD:9068941 20230427 RGD PMID:17722867|REF_RGD_ID:10046041 11764749 A2M alpha-2-macroglobulin gene DOID:10652 Alzheimer's disease ISO RGD:735738 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: ALPHA-2-MACROGLOBULIN POLYMORPHISM PMID:1370808|PMID:15023809|PMID:1717945|PMID:24033266|PMID:9697696|PMID:9811940 11764749 A2M alpha-2-macroglobulin gene DOID:10652 Alzheimer's disease no_association ISO RGD:735738 D RGD:9068941 20230427 RGD PMID:10319853|REF_RGD_ID:1300322 11764749 A2M alpha-2-macroglobulin gene DOID:10652 Alzheimer's disease no_association ISO RGD:735738 D RGD:9068941 20230427 RGD DNA:polymorphism: :p.I1000V (human) PMID:10936700|REF_RGD_ID:10046015 11764749 A2M alpha-2-macroglobulin gene DOID:10652 Alzheimer's disease no_association ISO RGD:735738 D RGD:9068941 20230427 RGD DNA:polymorphisms: :multiple PMID:12966032|REF_RGD_ID:10046016 11764749 A2M alpha-2-macroglobulin gene DOID:10652 Alzheimer's disease onset ISO RGD:735738 D RGD:9068941 20230427 RGD DNA:polymorphism: :p.I1000V (human) PMID:12133586|REF_RGD_ID:10046014 11764749 A2M alpha-2-macroglobulin gene DOID:10754 otitis media treatment ISO RGD:8779469 D RGD:9068941 20230427 RGD PMID:2459981|PMID:2473673|REF_RGD_ID:11553864|REF_RGD_ID:11553918 11764749 A2M alpha-2-macroglobulin gene DOID:10976 membranous glomerulonephritis ISO RGD:2004 D RGD:9068941 20230427 RGD protein:increased expression:serum PMID:9453001|REF_RGD_ID:10046046 11764749 A2M alpha-2-macroglobulin gene DOID:11372 megacolon ISO RGD:735738 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11764749 A2M alpha-2-macroglobulin gene DOID:114 heart disease ISO RGD:735738 D RGD:9068941 20230427 RGD associated with HIV Infections;protein:increased expression:serum PMID:20005173|REF_RGD_ID:10046031 11764749 A2M alpha-2-macroglobulin gene DOID:11506 suppurative otitis media ISO RGD:8779469 D RGD:9068941 20230427 RGD PMID:1696441|REF_RGD_ID:11556250 11764749 A2M alpha-2-macroglobulin gene DOID:1184 nephrotic syndrome ISO RGD:2004 D RGD:9068941 20230427 RGD protein:increased expression:serum PMID:9453001|REF_RGD_ID:10046046 11764749 A2M alpha-2-macroglobulin gene DOID:1184 nephrotic syndrome ISO RGD:735738 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:11304663 11764749 A2M alpha-2-macroglobulin gene DOID:13208 background diabetic retinopathy treatment ISO RGD:735738 D RGD:9068941 20230427 RGD PMID:10848441|REF_RGD_ID:10046010 11764749 A2M alpha-2-macroglobulin gene DOID:14115 toxic shock syndrome treatment ISO RGD:2004 D RGD:9068941 20230427 RGD PMID:2424486|REF_RGD_ID:10046036 11764749 A2M alpha-2-macroglobulin gene DOID:14330 Parkinson's disease onset ISO RGD:735738 D RGD:9068941 20230427 RGD DNA:polymorphism: :p.I1000V (human) PMID:12133586|REF_RGD_ID:10046014 11764749 A2M alpha-2-macroglobulin gene DOID:2320 obstructive lung disease ISO RGD:735738 D RGD:9068941 20230427 RGD PMID:2475424|REF_RGD_ID:1300321 11764749 A2M alpha-2-macroglobulin gene DOID:2377 multiple sclerosis ISO RGD:735738 D RGD:9068941 20230427 RGD PMID:11498265|REF_RGD_ID:1549857 11764749 A2M alpha-2-macroglobulin gene DOID:3021 acute kidney failure ISO RGD:735738 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:23052191 11764749 A2M alpha-2-macroglobulin gene DOID:3526 cerebral infarction disease_progression ISO RGD:735738 D RGD:9068941 20230427 RGD PMID:28266892|REF_RGD_ID:13702087 11764749 A2M alpha-2-macroglobulin gene DOID:5082 liver cirrhosis ISO RGD:735738 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 11764749 A2M alpha-2-macroglobulin gene DOID:583 hemolytic anemia ISO RGD:2004 D RGD:9068941 20230427 RGD PMID:11952820|REF_RGD_ID:704364 11764749 A2M alpha-2-macroglobulin gene DOID:630 genetic disease ISO RGD:735738 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764749 A2M alpha-2-macroglobulin gene DOID:684 hepatocellular carcinoma ISO RGD:2004 D RGD:9068941 20230427 RGD mRNA,protein:increased expression:liver: PMID:15509519|REF_RGD_ID:1358261 11764749 A2M alpha-2-macroglobulin gene DOID:684 hepatocellular carcinoma ISO RGD:735738 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:15509519 11764749 A2M alpha-2-macroglobulin gene DOID:8283 peritonitis ISO RGD:2004 D RGD:9068941 20230427 RGD PMID:16538883|REF_RGD_ID:1598512 11764749 A2M alpha-2-macroglobulin gene DOID:850 lung disease ISO RGD:735738 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:2475424 11764749 A2M alpha-2-macroglobulin gene DOID:893 Wilson disease ISO RGD:735738 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 11764749 A2M alpha-2-macroglobulin gene DOID:9000972 Fever ISO RGD:2004 D RGD:9068941 20230427 RGD PMID:2460123|REF_RGD_ID:10046042 11764749 A2M alpha-2-macroglobulin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735738 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11764749 A2M alpha-2-macroglobulin gene DOID:9002457 Experimental Arthritis ISO RGD:2004 D RGD:9068941 20230427 RGD protein:increased expression:serum PMID:6163339|REF_RGD_ID:10046032 11764749 A2M alpha-2-macroglobulin gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:2004 D RGD:9068941 20230427 RGD PMID:1710603|REF_RGD_ID:10046021 11764749 A2M alpha-2-macroglobulin gene DOID:9002928 Colonic Neoplasms ISO RGD:735738 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 11764749 A2M alpha-2-macroglobulin gene DOID:9003049 Femur Head Necrosis ISO RGD:2004 D RGD:9068941 20230427 RGD mRNA:increased expression:head of femur PMID:20579363|REF_RGD_ID:10046018 11764749 A2M alpha-2-macroglobulin gene DOID:9003936 Cardiomegaly ISO RGD:2004 D RGD:9068941 20230427 RGD PMID:12494268|REF_RGD_ID:1549856 11764749 A2M alpha-2-macroglobulin gene DOID:9004484 Sepsis ISO RGD:2004 D RGD:9068941 20230427 RGD PMID:9843780|REF_RGD_ID:1598509 11764749 A2M alpha-2-macroglobulin gene DOID:9004484 Sepsis ISO RGD:2004 D RGD:9068941 20230427 RGD mRNA:increased expression:liver PMID:15167684|REF_RGD_ID:10046033 11764749 A2M alpha-2-macroglobulin gene DOID:9005172 Lung Neoplasms ISO RGD:735738 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:17902193|PMID:19180532 11764749 A2M alpha-2-macroglobulin gene DOID:9005372 Inflammation ISO RGD:2004 D RGD:9068941 20230427 RGD PMID:6202298|REF_RGD_ID:10046045 11764749 A2M alpha-2-macroglobulin gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:2004 D RGD:9068941 20230427 RGD associated with Diabetes Mellitus, Experimental PMID:21742475|REF_RGD_ID:10046044 11764749 A2M alpha-2-macroglobulin gene DOID:9007271 Hypoalbuminemia ISO RGD:2004 D RGD:9068941 20230427 RGD protein:increased expression:serum PMID:9453001|REF_RGD_ID:10046046 11764749 A2M alpha-2-macroglobulin gene DOID:9007730 Burns ISO RGD:2004 D RGD:9068941 20230427 RGD PMID:14960360|REF_RGD_ID:1598513 11764749 A2M alpha-2-macroglobulin gene DOID:9008821 Otitis Media with Effusion ISO RGD:8779469 D RGD:9068941 20230427 RGD PMID:2454602|REF_RGD_ID:11560528 11764795 RAB42 RAB42, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1604758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764805 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:25439726|PMID:26922252|PMID:28492532 11764805 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant intermediate Charcot-Marie-Tooth disease PMID:25741868|PMID:28492532|PMID:32376792 11764805 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:0110171 Charcot-Marie-Tooth disease axonal type 2S ISO RGD:68450 D RGD:7240710 20180130 OMIM 11764805 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:0110171 Charcot-Marie-Tooth disease axonal type 2S ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2S PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15797190|PMID:16199547|PMID:16964485|PMID:17431882|PMID:18802676|PMID:19157874|PMID:19158098|PMID:21353777|PMID:22157136|PMID:22965130|PMID:23449687|PMID:23566544|PMID:23806086|PMID:24022109|PMID:24033266|PMID:24088041|PMID:25280635|PMID:25439726|PMID:2545169|PMID:25454169|PMID:25568292|PMID:25741868|PMID:26257172|PMID:26298607|PMID:26392352|PMID:26467025|PMID:26709713|PMID:26752306|PMID:27450922|PMID:27727376|PMID:28065684|PMID:28251916|PMID:28492532|PMID:29858556|PMID:30598237|PMID:31020813|PMID:31178897|PMID:34190362 11764805 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:0111064 distal spinal muscular atrophy 1 ISO RGD:68450 D RGD:7240710 20180130 OMIM 11764805 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:0111064 distal spinal muscular atrophy 1 ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 | ClinVar Annotator: match by term: Neuronopathy, severe infantile axonal, with respiratory failure PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15290238|PMID:15503272|PMID:15599641|PMID:15797190|PMID:16199547|PMID:16765827|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:19158098|PMID:20031928|PMID:20859832|PMID:21353777|PMID:22157136|PMID:22791546|PMID:22965130|PMID:23449687|PMID:23566544|PMID:23806086|PMID:23929295|PMID:24022109|PMID:24033266|PMID:24088041|PMID:24388491|PMID:25280635|PMID:25326635|PMID:25326637|PMID:25439726|PMID:2545169|PMID:25454169|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26257172|PMID:26298607|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26709713|PMID:26922252|PMID:27450922|PMID:27727376|PMID:28065684|PMID:28202949|PMID:28251916|PMID:28397221|PMID:28403181|PMID:28492532|PMID:28765793|PMID:28902413|PMID:29761130|PMID:29858556|PMID:30373780|PMID:30598237|PMID:30755392|PMID:30863264|PMID:31019026|PMID:31020813|PMID:31178897|PMID:31211173|PMID:32376792|PMID:32488064|PMID:32573669|PMID:33258288|PMID:33369814|PMID:34190362|PMID:9536098 11764805 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy PMID:11528396|PMID:14681881|PMID:15108294|PMID:15797190|PMID:16199547|PMID:16964485|PMID:17431882|PMID:18802676|PMID:19157874|PMID:19158098|PMID:20859832|PMID:22157136|PMID:22965130|PMID:23449687|PMID:23566544|PMID:23929295|PMID:24022109|PMID:24033266|PMID:24342282|PMID:24388491|PMID:25280635|PMID:25439726|PMID:2545169|PMID:25454169|PMID:25568292|PMID:25741868|PMID:26467025|PMID:26709713|PMID:27450922|PMID:28403181|PMID:28492532|PMID:29761130|PMID:30598237|PMID:31020813|PMID:31211173 11764805 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:0111200 distal hereditary motor neuronopathy type 1 ISO RGD:68450 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 1 PMID:14681881|PMID:25439726|PMID:25568292|PMID:25741868|PMID:28492532 11764805 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:1059 intellectual disability ISO RGD:68450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11764805 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:68450 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15599641|PMID:15797190|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:20031928|PMID:20859832|PMID:21353777|PMID:22157136|PMID:22791546|PMID:23449687|PMID:23566544|PMID:23806086|PMID:24022109|PMID:24033266|PMID:24088041|PMID:25326635|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26257172|PMID:26392352|PMID:26467025|PMID:28492532|PMID:29761130|PMID:30598237|PMID:30863264|PMID:32376792|PMID:32573669|PMID:33258288|PMID:9536098 11764805 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:68450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15599641|PMID:15797190|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:20031928|PMID:20859832|PMID:21353777|PMID:22157136|PMID:22791546|PMID:23449687|PMID:23566544|PMID:23806086|PMID:24022109|PMID:24033266|PMID:24088041|PMID:25326635|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26709713|PMID:27727376|PMID:28251916|PMID:28492532|PMID:28765793|PMID:29761130|PMID:30598237|PMID:30863264|PMID:32376792|PMID:32573669|PMID:33258288|PMID:9536098 11764805 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15599641|PMID:15797190|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:19158098|PMID:20031928|PMID:20859832|PMID:21353777|PMID:22157136|PMID:22791546|PMID:23449687|PMID:23566544|PMID:23806086|PMID:24022109|PMID:24033266|PMID:24088041|PMID:25326635|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26709713|PMID:26922252|PMID:27727376|PMID:28251916|PMID:28492532|PMID:28765793|PMID:29761130|PMID:29858556|PMID:30598237|PMID:30863264|PMID:32376792|PMID:32573669|PMID:33258288|PMID:9536098 11764805 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:12377 spinal muscular atrophy ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Spinal muscular atrophy PMID:14506069|PMID:14681881|PMID:15108294|PMID:15290238|PMID:16199547|PMID:16765827|PMID:16964485|PMID:17431882|PMID:18802676|PMID:19158098|PMID:21353777|PMID:22157136|PMID:23566544|PMID:24033266|PMID:24388491|PMID:25326635|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26922252|PMID:28065684|PMID:28397221|PMID:28492532|PMID:31178897|PMID:32376792 11764805 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:574 peripheral nervous system disease ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:11528396|PMID:14681881|PMID:16765827|PMID:22157136|PMID:23566544|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26392352|PMID:27450922|PMID:28492532|PMID:30598237 11764805 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:630 genetic disease ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14506069|PMID:14681881|PMID:15108294|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:19158098|PMID:21353777|PMID:22157136|PMID:22965130|PMID:23449687|PMID:23566544|PMID:23806086|PMID:24088041|PMID:24388491|PMID:25439726|PMID:2545169|PMID:25454169|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26709713|PMID:26752306|PMID:26922252|PMID:27450922|PMID:27727376|PMID:28251916|PMID:28403181|PMID:28492532|PMID:28902413|PMID:30373780|PMID:30598237|PMID:31178897|PMID:32376792|PMID:33258288|PMID:33369814|PMID:9536098 11764805 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:870 neuropathy ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:11528396|PMID:14681881|PMID:16765827|PMID:22157136|PMID:23566544|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26392352|PMID:27450922|PMID:28492532|PMID:30598237 11764805 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:68450 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11764805 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68450 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:14506069|PMID:14681881|PMID:15108294|PMID:19157874|PMID:23449687|PMID:23806086|PMID:24088041|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26257172|PMID:26709713|PMID:28492532|PMID:30598237 11764805 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:9005219 Abnormal Reflexes ISO RGD:68450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperreflexia PMID:25741868 11764805 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:9005532 Muscle Weakness ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive muscle weakness PMID:14506069|PMID:14681881|PMID:25439726|PMID:25568292|PMID:25741868|PMID:28492532 11764805 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:9007114 Mobility Limitation ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Difficulty walking PMID:14506069|PMID:14681881|PMID:25439726|PMID:25568292|PMID:25741868|PMID:28492532 11764805 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:68450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11764824 MELK maternal embryonic leucine zipper kinase gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1319059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11764824 MELK maternal embryonic leucine zipper kinase gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1319059 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11764824 MELK maternal embryonic leucine zipper kinase gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1319059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11764824 MELK maternal embryonic leucine zipper kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1319059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11764824 MELK maternal embryonic leucine zipper kinase gene DOID:630 genetic disease ISO RGD:1319059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764824 MELK maternal embryonic leucine zipper kinase gene DOID:684 hepatocellular carcinoma ISO RGD:1319059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11764824 MELK maternal embryonic leucine zipper kinase gene DOID:9562 primary ciliary dyskinesia ISO RGD:1319059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11764824 MELK maternal embryonic leucine zipper kinase gene DOID:9870 galactosemia ISO RGD:1319059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11764869 ZNF596 zinc finger protein 596 gene DOID:630 genetic disease ISO RGD:1353829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764871 FAM120B family with sequence similarity 120B gene DOID:13938 amenorrhea ISO RGD:1321130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11764871 FAM120B family with sequence similarity 120B gene DOID:630 genetic disease ISO RGD:1321130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764889 TSHR thyroid stimulating hormone receptor gene DOID:0050328 congenital hypothyroidism ISO RGD:737021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:11442002|PMID:15693879|PMID:16756469|PMID:17526952|PMID:19158199|PMID:19506388|PMID:21677043|PMID:21707688|PMID:21714469|PMID:22405933|PMID:22876533|PMID:23926367|PMID:24033266|PMID:24895636|PMID:25741868|PMID:26709262|PMID:27084275|PMID:27637299|PMID:28444304|PMID:28455095|PMID:28492532|PMID:30083029|PMID:31356790 11764889 TSHR thyroid stimulating hormone receptor gene DOID:0050700 cardiomyopathy ISO RGD:737021 D RGD:9068941 20200609 RGD PMID:8796147|REF_RGD_ID:1580777 11764889 TSHR thyroid stimulating hormone receptor gene DOID:0060572 Ritscher-Schinzel syndrome 2 ISO RGD:737021 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 2 PMID:11442002|PMID:15693879|PMID:16756469|PMID:17526952|PMID:19158199|PMID:19506388|PMID:21677043|PMID:21707688|PMID:21714469|PMID:22405933|PMID:22876533|PMID:23926367|PMID:24033266|PMID:24895636|PMID:25741868|PMID:26709262|PMID:27084275|PMID:27637299|PMID:28444304|PMID:28455095|PMID:28492532|PMID:30083029|PMID:31356790 11764889 TSHR thyroid stimulating hormone receptor gene DOID:0070126 congenital nongoitrous hypothyroidism 1 ISO RGD:737021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPOTHYROIDISM, NONAUTOIMMUNE | ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 PMID:10037069|PMID:10720030|PMID:10870027|PMID:11095460|PMID:11442002|PMID:12050212|PMID:12629076|PMID:14725684|PMID:15514085|PMID:15693879|PMID:16060907|PMID:16756469|PMID:17062880|PMID:17524032|PMID:17526952|PMID:17705697|PMID:17953807|PMID:18379122|PMID:18727713|PMID:18850313|PMID:19158199|PMID:19221175|PMID:19240155|PMID:19506388|PMID:1955520|PMID:19820021|PMID:20652618|PMID:20718767|PMID:20736161|PMID:21186955|PMID:21586576|PMID:21677043|PMID:21707688|PMID:21714469|PMID:22049173|PMID:22112806|PMID:22359649|PMID:22405933|PMID:22876533|PMID:23356285|PMID:23535966|PMID:23926367|PMID:24033266|PMID:24728327|PMID:24895636|PMID:25248169|PMID:25557138|PMID:25741868|PMID:26709262|PMID:27060741|PMID:27084275|PMID:27255745|PMID:27578510|PMID:27637299|PMID:28444304|PMID:28455095|PMID:28492532|PMID:28561265|PMID:29092890|PMID:30083029|PMID:30372544|PMID:31356790|PMID:7528344|PMID:8954020|PMID:8964822|PMID:9100579|PMID:9185526|PMID:9329388|PMID:9385128|PMID:9589634 11764889 TSHR thyroid stimulating hormone receptor gene DOID:0081101 nonautoimmune hyperthyroidism ISO RGD:737021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperthyroidism, nonautoimmune | ClinVar Annotator: match by term: TOXIC THYROID HYPERPLASIA, AUTOSOMAL DOMINANT PMID:10037069|PMID:10199795|PMID:10870027|PMID:11442002|PMID:11549687|PMID:12050212|PMID:12629076|PMID:14725684|PMID:15514085|PMID:15693879|PMID:16060907|PMID:16106256|PMID:16756469|PMID:17062880|PMID:17524032|PMID:17526952|PMID:17705697|PMID:17953807|PMID:18379122|PMID:18727713|PMID:18850313|PMID:19158199|PMID:19221175|PMID:19240155|PMID:19506388|PMID:1955520|PMID:19820021|PMID:20652618|PMID:20718767|PMID:20736161|PMID:21186955|PMID:21586576|PMID:21677043|PMID:21707688|PMID:21714469|PMID:22049173|PMID:22112806|PMID:22359649|PMID:22405933|PMID:22876533|PMID:23356285|PMID:23535966|PMID:23926367|PMID:24033266|PMID:24728327|PMID:24895636|PMID:25248169|PMID:25557138|PMID:25741868|PMID:26709262|PMID:27060741|PMID:27084275|PMID:27255745|PMID:27578510|PMID:27637299|PMID:28444304|PMID:28455095|PMID:28492532|PMID:28561265|PMID:29092890|PMID:30083029|PMID:30372544|PMID:31356790|PMID:7124278|PMID:7528344|PMID:7800007|PMID:7920658|PMID:8954020|PMID:8964822|PMID:9100579|PMID:9185526|PMID:9253356|PMID:9329388|PMID:9360555|PMID:9360556|PMID:9385128|PMID:9398746|PMID:9589634 11764889 TSHR thyroid stimulating hormone receptor gene DOID:0081102 familial gestational hyperthyroidism ISO RGD:737021 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial gestational hyperthyroidism PMID:12050212|PMID:24033266|PMID:24728327|PMID:25741868|PMID:7528344|PMID:8636266|PMID:8964822|PMID:9329388|PMID:9360555 11764889 TSHR thyroid stimulating hormone receptor gene DOID:0081120 Graves ophthalmopathy ISO RGD:737021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31705858 11764889 TSHR thyroid stimulating hormone receptor gene DOID:0081120 Graves ophthalmopathy ISO RGD:737021 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs179247 (human) PMID:22673349|REF_RGD_ID:8548662 11764889 TSHR thyroid stimulating hormone receptor gene DOID:0081120 Graves ophthalmopathy severity ISO RGD:737021 D RGD:9068941 20200609 RGD PMID:20237164|REF_RGD_ID:8548673 11764889 TSHR thyroid stimulating hormone receptor gene DOID:12361 Graves' disease ISO RGD:11458 D RGD:9068941 20230506 RGD PMID:23538203|REF_RGD_ID:8548657 11764889 TSHR thyroid stimulating hormone receptor gene DOID:12361 Graves' disease ISO RGD:737021 D RGD:9068941 20230506 CTD CTD Direct Evidence: marker/mechanism PMID:1955520|PMID:21841780 11764889 TSHR thyroid stimulating hormone receptor gene DOID:12361 Graves' disease ISO RGD:737021 D RGD:9068941 20230506 RGD PMID:7828357|PMID:9528975|REF_RGD_ID:8548663|REF_RGD_ID:8548669 11764889 TSHR thyroid stimulating hormone receptor gene DOID:12361 Graves' disease ISO RGD:737021 D RGD:9068941 20230506 RGD DNA, mRNA:SNPs, decreased expression:promoter, intron, thymus:rs179247, rs2268458, rs2371462 (human) PMID:21642385|REF_RGD_ID:8548654 11764889 TSHR thyroid stimulating hormone receptor gene DOID:12361 Graves' disease ISO RGD:737021 D RGD:9068941 20230506 RGD DNA:SNPs: :multiple PMID:19244275|REF_RGD_ID:8548656 11764889 TSHR thyroid stimulating hormone receptor gene DOID:12361 Graves' disease ISO RGD:737021 D RGD:9068941 20230506 RGD DNA:SNPs:intron:rs179247, rs12101255 (human) PMID:21124799|REF_RGD_ID:8548655 11764889 TSHR thyroid stimulating hormone receptor gene DOID:12361 Graves' disease ISO RGD:737021 D RGD:9068941 20230506 RGD DNA:polymorphism: :pD727E (human) PMID:11887032|REF_RGD_ID:8548661 11764889 TSHR thyroid stimulating hormone receptor gene DOID:12361 Graves' disease no_association ISO RGD:737021 D RGD:9068941 20200609 RGD DNA:SNPs:intron:rs179247, rs12101255 and rs2268458 (human) PMID:21155717|REF_RGD_ID:8548665 11764889 TSHR thyroid stimulating hormone receptor gene DOID:12361 Graves' disease treatment ISO RGD:737021 D RGD:9068941 20200609 RGD PMID:24518168|REF_RGD_ID:8548664 11764889 TSHR thyroid stimulating hormone receptor gene DOID:1459 hypothyroidism ISO RGD:737021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:19240155|PMID:19820021|PMID:22049173|PMID:25557138|PMID:25741868|PMID:27060741|PMID:28492532|PMID:28561265 11764889 TSHR thyroid stimulating hormone receptor gene DOID:1612 breast cancer ISO RGD:737021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:19240155|PMID:19820021|PMID:22049173|PMID:25557138|PMID:25741868|PMID:27060741|PMID:28492532|PMID:28561265 11764889 TSHR thyroid stimulating hormone receptor gene DOID:1826 epilepsy ISO RGD:737021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure disorder PMID:12050212|PMID:25741868|PMID:8964822 11764889 TSHR thyroid stimulating hormone receptor gene DOID:2394 ovarian cancer ISO RGD:737021 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:11442002|PMID:15693879|PMID:16756469|PMID:17526952|PMID:19158199|PMID:19506388|PMID:21677043|PMID:21707688|PMID:21714469|PMID:22405933|PMID:22876533|PMID:23926367|PMID:24033266|PMID:24895636|PMID:25248169|PMID:25741868|PMID:26709262|PMID:27084275|PMID:27637299|PMID:28444304|PMID:28455095|PMID:28492532|PMID:30083029|PMID:31356790 11764889 TSHR thyroid stimulating hormone receptor gene DOID:305 carcinoma ISO RGD:737021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9062474 11764889 TSHR thyroid stimulating hormone receptor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11764889 TSHR thyroid stimulating hormone receptor gene DOID:630 genetic disease ISO RGD:737021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12629076|PMID:14725684|PMID:16060907|PMID:17524032|PMID:17705697|PMID:18727713|PMID:19240155|PMID:19820021|PMID:20718767|PMID:21186955|PMID:22049173|PMID:22112806|PMID:22876533|PMID:25557138|PMID:25741868|PMID:27060741|PMID:27255745|PMID:27637299|PMID:28492532|PMID:28561265|PMID:29092890|PMID:29546359|PMID:30372544|PMID:32425884|PMID:34276565|PMID:8954020|PMID:9100579|PMID:9185526 11764889 TSHR thyroid stimulating hormone receptor gene DOID:657 adenoma ISO RGD:737021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8413627 11764889 TSHR thyroid stimulating hormone receptor gene DOID:7188 autoimmune thyroiditis ISO RGD:737021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17952073 11764889 TSHR thyroid stimulating hormone receptor gene DOID:7997 thyrotoxicosis ISO RGD:737021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9062474 11764889 TSHR thyroid stimulating hormone receptor gene DOID:7998 hyperthyroidism ISO RGD:737021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7800007|PMID:8413627|PMID:8964822 11764889 TSHR thyroid stimulating hormone receptor gene DOID:9000081 Lymphatic Metastasis ISO RGD:737021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9062474 11764889 TSHR thyroid stimulating hormone receptor gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:737021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19131502 11764889 TSHR thyroid stimulating hormone receptor gene DOID:9000591 Congenital Nongoitrous Hypothyroidism ISO RGD:737021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPOTHYROIDISM DUE TO UNRESPONSIVENESS TO THYROTROPIN | ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO TSH RESISTANCE | ClinVar Annotator: match by term: TSH RESISTANCE PMID:10037069|PMID:10720030|PMID:10870027|PMID:11095460|PMID:11442002|PMID:12050212|PMID:12629076|PMID:14725684|PMID:15514085|PMID:15693879|PMID:16060907|PMID:16756469|PMID:17062880|PMID:17524032|PMID:17526952|PMID:17705697|PMID:17953807|PMID:18379122|PMID:18727713|PMID:18850313|PMID:19158199|PMID:19221175|PMID:19240155|PMID:19506388|PMID:1955520|PMID:19820021|PMID:20652618|PMID:20718767|PMID:20736161|PMID:21186955|PMID:21586576|PMID:21677043|PMID:21707688|PMID:21714469|PMID:22049173|PMID:22112806|PMID:22359649|PMID:22405933|PMID:22876533|PMID:23356285|PMID:23535966|PMID:23926367|PMID:24033266|PMID:24728327|PMID:24895636|PMID:25248169|PMID:25557138|PMID:25741868|PMID:26709262|PMID:27060741|PMID:27084275|PMID:27255745|PMID:27578510|PMID:27637299|PMID:28444304|PMID:28455095|PMID:28492532|PMID:28561265|PMID:29092890|PMID:30083029|PMID:30372544|PMID:31356790|PMID:7528344|PMID:8954020|PMID:8964822|PMID:9100579|PMID:9185526|PMID:9329388|PMID:9385128|PMID:9589634 11764889 TSHR thyroid stimulating hormone receptor gene DOID:9004547 Thyroid Neoplasms ISO RGD:737021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8413627|PMID:9062474 11764889 TSHR thyroid stimulating hormone receptor gene DOID:9005172 Lung Neoplasms ISO RGD:737021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9062474 11764889 TSHR thyroid stimulating hormone receptor gene DOID:9005447 Hyperfunctioning Thyroid Adenoma ISO RGD:737021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid adenoma, hyperfunctioning PMID:7800007|PMID:8413627|PMID:9253356|PMID:9360556|PMID:9398746 11764889 TSHR thyroid stimulating hormone receptor gene DOID:9007355 Hashimoto Disease ISO RGD:737021 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs3783938 (human) PMID:22673349|REF_RGD_ID:8548662 11764889 TSHR thyroid stimulating hormone receptor gene DOID:9008086 Developmental Disabilities ISO RGD:737021 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:12050212|PMID:25741868|PMID:8964822 11764889 TSHR thyroid stimulating hormone receptor gene DOID:988 mitral valve prolapse ISO RGD:737021 D RGD:9068941 20200609 RGD PMID:10199795|REF_RGD_ID:1580775 11764915 MAB21L2 mab-21 like 2 gene DOID:0081151 common variable immunodeficiency 8 ISO RGD:1323458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity PMID:26206937|PMID:26768763|PMID:28492532 11764915 MAB21L2 mab-21 like 2 gene DOID:0111802 syndromic microphthalmia 14 ISO RGD:1323458 D RGD:7240710 20180130 OMIM 11764915 MAB21L2 mab-21 like 2 gene DOID:0111802 syndromic microphthalmia 14 ISO RGD:1323458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colobomatous microphthalmia-rhizomelic dysplasia syndrome PMID:24906020|PMID:25719200|PMID:25741868|PMID:32860008|PMID:34008892 11764915 MAB21L2 mab-21 like 2 gene DOID:12270 coloboma ISO RGD:1323458 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:c.151 C>G, (p.R51G)(human) PMID:25719200|REF_RGD_ID:11553846 11764915 MAB21L2 mab-21 like 2 gene DOID:630 genetic disease ISO RGD:1323458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28166811|PMID:28492532 11764915 MAB21L2 mab-21 like 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1323458 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 11764920 LOC100974842 olfactory receptor 8K5 gene DOID:1059 intellectual disability ISO RGD:1351237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11764920 LOC100974842 olfactory receptor 8K5 gene DOID:630 genetic disease ISO RGD:1351237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764921 VTI1B vesicle transport through interaction with t-SNAREs 1B gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1352901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 11764921 VTI1B vesicle transport through interaction with t-SNAREs 1B gene DOID:630 genetic disease ISO RGD:1352901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764936 PNCK pregnancy up-regulated nonubiquitous CaM kinase gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1605290 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11764936 PNCK pregnancy up-regulated nonubiquitous CaM kinase gene DOID:0050476 Barth syndrome ISO RGD:1605290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11764936 PNCK pregnancy up-regulated nonubiquitous CaM kinase gene DOID:0050800 creatine transporter deficiency ISO RGD:1605290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11764936 PNCK pregnancy up-regulated nonubiquitous CaM kinase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11764936 PNCK pregnancy up-regulated nonubiquitous CaM kinase gene DOID:0112003 immunodeficiency 33 ISO RGD:1605290 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11764936 PNCK pregnancy up-regulated nonubiquitous CaM kinase gene DOID:10588 adrenoleukodystrophy ISO RGD:1605290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11764936 PNCK pregnancy up-regulated nonubiquitous CaM kinase gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1605290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11764936 PNCK pregnancy up-regulated nonubiquitous CaM kinase gene DOID:12849 autistic disorder ISO RGD:1605290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11764936 PNCK pregnancy up-regulated nonubiquitous CaM kinase gene DOID:13628 favism ISO RGD:1605290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11764936 PNCK pregnancy up-regulated nonubiquitous CaM kinase gene DOID:2729 dyskeratosis congenita ISO RGD:1605290 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11764936 PNCK pregnancy up-regulated nonubiquitous CaM kinase gene DOID:607 paraplegia ISO RGD:1605290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11764936 PNCK pregnancy up-regulated nonubiquitous CaM kinase gene DOID:630 genetic disease ISO RGD:1605290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11764936 PNCK pregnancy up-regulated nonubiquitous CaM kinase gene DOID:9002720 Splenomegaly ISO RGD:1605290 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11764974 TCAIM T cell activation inhibitor, mitochondrial gene DOID:630 genetic disease ISO RGD:1605240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765015 TIAL1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:224 transient cerebral ischemia ISO RGD:1595845 D RGD:9068941 20200609 RGD PMID:10700014|REF_RGD_ID:1357161 11765015 TIAL1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:3069 malignant astrocytoma ISO RGD:1345557 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:27106762 11765015 TIAL1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:630 genetic disease ISO RGD:1345557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765015 TIAL1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:9000918 Disease Progression ISO RGD:1345557 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:27106762 11765015 TIAL1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11765042 AK3 adenylate kinase 3 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:737588 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 11765042 AK3 adenylate kinase 3 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:737588 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood mononuclear cell PMID:27078856|REF_RGD_ID:13842476 11765042 AK3 adenylate kinase 3 gene DOID:630 genetic disease ISO RGD:737588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765042 AK3 adenylate kinase 3 gene DOID:684 hepatocellular carcinoma ISO RGD:737588 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:17203974|REF_RGD_ID:13842477 11765051 SPATA2L spermatogenesis associated 2 like gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1605588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 11765051 SPATA2L spermatogenesis associated 2 like gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1605588 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11765051 SPATA2L spermatogenesis associated 2 like gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1605588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:23613520 11765051 SPATA2L spermatogenesis associated 2 like gene DOID:13636 Fanconi anemia ISO RGD:1605588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 11765051 SPATA2L spermatogenesis associated 2 like gene DOID:14780 KBG syndrome ISO RGD:1605588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 11765051 SPATA2L spermatogenesis associated 2 like gene DOID:630 genetic disease ISO RGD:1605588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765057 SLC8A2 solute carrier family 8 member A2 gene DOID:10652 Alzheimer's disease ISO RGD:731774 D RGD:9068941 20200609 RGD protein:altered expression:synaptosome: PMID:21382638|REF_RGD_ID:13628395 11765057 SLC8A2 solute carrier family 8 member A2 gene DOID:1824 status epilepticus ISO RGD:620194 D RGD:9068941 20200609 RGD PMID:15461673|REF_RGD_ID:2316980 11765057 SLC8A2 solute carrier family 8 member A2 gene DOID:2316 brain ischemia ISO RGD:620194 D RGD:9068941 20200609 RGD PMID:16107787|REF_RGD_ID:2316979 11765057 SLC8A2 solute carrier family 8 member A2 gene DOID:630 genetic disease ISO RGD:731774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765057 SLC8A2 solute carrier family 8 member A2 gene DOID:9004009 Reperfusion Injury ISO RGD:620194 D RGD:9068941 20200609 RGD PMID:18037393|REF_RGD_ID:2316975 11765071 MRPS18A mitochondrial ribosomal protein S18A gene DOID:0050444 infantile Refsum disease ISO RGD:1346345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11765071 MRPS18A mitochondrial ribosomal protein S18A gene DOID:630 genetic disease ISO RGD:1346345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765071 MRPS18A mitochondrial ribosomal protein S18A gene DOID:905 Zellweger syndrome ISO RGD:1346345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11765090 NDUFA4 NDUFA4 mitochondrial complex associated gene DOID:630 genetic disease ISO RGD:1352480 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765090 NDUFA4 NDUFA4 mitochondrial complex associated gene DOID:9004227 Mitochondrial Complex IV Deficiency, Nuclear Type 21 ISO RGD:1352480 D RGD:7240710 20201111 OMIM 11765090 NDUFA4 NDUFA4 mitochondrial complex associated gene DOID:9004227 Mitochondrial Complex IV Deficiency, Nuclear Type 21 ISO RGD:1352480 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21 PMID:25741868 11765098 LOC100982159 olfactory receptor 5B2 gene DOID:1059 intellectual disability ISO RGD:1350221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11765098 LOC100982159 olfactory receptor 5B2 gene DOID:630 genetic disease ISO RGD:1350221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765104 RPS6KL1 ribosomal protein S6 kinase like 1 gene DOID:1059 intellectual disability ISO RGD:1319861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11765104 RPS6KL1 ribosomal protein S6 kinase like 1 gene DOID:630 genetic disease ISO RGD:1319861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765138 PARP9 poly(ADP-ribose) polymerase family member 9 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1347584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 11765138 PARP9 poly(ADP-ribose) polymerase family member 9 gene DOID:630 genetic disease ISO RGD:1347584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765138 PARP9 poly(ADP-ribose) polymerase family member 9 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 11765138 PARP9 poly(ADP-ribose) polymerase family member 9 gene DOID:9270 alkaptonuria ISO RGD:1347584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11765163 UHMK1 U2AF homology motif kinase 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1344907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11765163 UHMK1 U2AF homology motif kinase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1344907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11765163 UHMK1 U2AF homology motif kinase 1 gene DOID:630 genetic disease ISO RGD:1344907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765163 UHMK1 U2AF homology motif kinase 1 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1344907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 11765163 UHMK1 U2AF homology motif kinase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11765175 APEH acylaminoacyl-peptide hydrolase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 11765175 APEH acylaminoacyl-peptide hydrolase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 11765175 APEH acylaminoacyl-peptide hydrolase gene DOID:630 genetic disease ISO RGD:735668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765175 APEH acylaminoacyl-peptide hydrolase gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:735668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11765204 SLC22A7 solute carrier family 22 member 7 gene DOID:0050444 infantile Refsum disease ISO RGD:732686 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11765204 SLC22A7 solute carrier family 22 member 7 gene DOID:630 genetic disease ISO RGD:732686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765204 SLC22A7 solute carrier family 22 member 7 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:732686 D RGD:9068941 20220616 RGD DNA:SNP:cds:rs2270860|rs4149178 (human) PMID:28347776|REF_RGD_ID:152995291 11765204 SLC22A7 solute carrier family 22 member 7 gene DOID:905 Zellweger syndrome ISO RGD:732686 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11765232 KIAA1586 KIAA1586 ortholog gene DOID:5419 schizophrenia ISO RGD:1343071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11765232 KIAA1586 KIAA1586 ortholog gene DOID:630 genetic disease ISO RGD:1343071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765243 LOC100987427 cytochrome b-c1 complex subunit 8 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1604364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 11765243 LOC100987427 cytochrome b-c1 complex subunit 8 gene DOID:0080113 mitochondrial complex III deficiency nuclear type 4 ISO RGD:1604364 D RGD:7240710 20180130 OMIM 11765243 LOC100987427 cytochrome b-c1 complex subunit 8 gene DOID:0080113 mitochondrial complex III deficiency nuclear type 4 ISO RGD:1604364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 4 PMID:18439546|PMID:25741868|PMID:28492532 11765243 LOC100987427 cytochrome b-c1 complex subunit 8 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604364 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11765243 LOC100987427 cytochrome b-c1 complex subunit 8 gene DOID:630 genetic disease ISO RGD:1604364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765243 LOC100987427 cytochrome b-c1 complex subunit 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11765243 LOC100987427 cytochrome b-c1 complex subunit 8 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604364 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11765255 HMGB4 high mobility group box 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11765255 HMGB4 high mobility group box 4 gene DOID:630 genetic disease ISO RGD:1606732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765261 LOC100988373 LINE-1 retrotransposable element ORF2 protein gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:730978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 11765261 LOC100988373 LINE-1 retrotransposable element ORF2 protein gene DOID:0060041 autism spectrum disorder ISO RGD:730978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:28492532|PMID:30504930 11765261 LOC100988373 LINE-1 retrotransposable element ORF2 protein gene DOID:0060777 congenital secretory sodium diarrhea 8 ISO RGD:730978 D RGD:7240710 20190315 OMIM 11765261 LOC100988373 LINE-1 retrotransposable element ORF2 protein gene DOID:0060777 congenital secretory sodium diarrhea 8 ISO RGD:730978 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Congenital secretory sodium diarrhea 8 PMID:25741868|PMID:26358773|PMID:28492532|PMID:30633106|PMID:31276831|PMID:3880821 11765261 LOC100988373 LINE-1 retrotransposable element ORF2 protein gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:730978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 11765261 LOC100988373 LINE-1 retrotransposable element ORF2 protein gene DOID:10763 hypertension ISO RGD:3720 D RGD:9068941 20200609 RGD PMID:11880335|PMID:12372791|REF_RGD_ID:727447|REF_RGD_ID:737665 11765261 LOC100988373 LINE-1 retrotransposable element ORF2 protein gene DOID:13250 diarrhea ISO RGD:730978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26564064 11765261 LOC100988373 LINE-1 retrotransposable element ORF2 protein gene DOID:1485 cystic fibrosis ISO RGD:730978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22466613 11765261 LOC100988373 LINE-1 retrotransposable element ORF2 protein gene DOID:1591 renovascular hypertension treatment ISO RGD:3720 D RGD:9068941 20200609 RGD PMID:12218313|REF_RGD_ID:727424 11765261 LOC100988373 LINE-1 retrotransposable element ORF2 protein gene DOID:5419 schizophrenia ISO RGD:730978 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11765261 LOC100988373 LINE-1 retrotransposable element ORF2 protein gene DOID:630 genetic disease ISO RGD:730978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11765261 LOC100988373 LINE-1 retrotransposable element ORF2 protein gene DOID:8437 intestinal obstruction ISO RGD:730978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22466613 11765261 LOC100988373 LINE-1 retrotransposable element ORF2 protein gene DOID:9000197 Edema ISO RGD:730978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20553904 11765261 LOC100988373 LINE-1 retrotransposable element ORF2 protein gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:730978 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 11765261 LOC100988373 LINE-1 retrotransposable element ORF2 protein gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3720 D RGD:9068941 20200609 RGD protein:increased activity:kidney cortex PMID:16244498|REF_RGD_ID:1625673 11765261 LOC100988373 LINE-1 retrotransposable element ORF2 protein gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20003708 11765261 LOC100988373 LINE-1 retrotransposable element ORF2 protein gene DOID:9006024 Hypotension ISO RGD:730978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26564064 11765261 LOC100988373 LINE-1 retrotransposable element ORF2 protein gene DOID:9970 obesity ISO RGD:3720 D RGD:9068941 20200609 RGD protein:decreased expression:kidney cortex PMID:16757903|REF_RGD_ID:1625672 11765282 NTAN1 N-terminal asparagine amidase gene DOID:12849 autistic disorder ISO RGD:1350127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11765282 NTAN1 N-terminal asparagine amidase gene DOID:1826 epilepsy ISO RGD:1350127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11765282 NTAN1 N-terminal asparagine amidase gene DOID:5419 schizophrenia ISO RGD:1350127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11765282 NTAN1 N-terminal asparagine amidase gene DOID:630 genetic disease ISO RGD:1350127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765286 LOC100989229 keratin-associated protein 3-1 gene DOID:630 genetic disease ISO RGD:1314968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765291 TXNDC2 thioredoxin domain containing 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1352753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11765291 TXNDC2 thioredoxin domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1352753 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11765291 TXNDC2 thioredoxin domain containing 2 gene DOID:543 dystonia ISO RGD:1352753 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 11765291 TXNDC2 thioredoxin domain containing 2 gene DOID:630 genetic disease ISO RGD:1352753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765298 IL12B interleukin 12B gene DOID:0060859 salmonellosis susceptibility ISO RGD:1353629 D RGD:9068941 20200609 RGD disseminated BCG and Salmonella enteritidis infection, OMIM:209950 DNA:deletion:intron,exon:homozygous 4.4kb deletion encompassing exons 4 and 5 and associated introns PMID:9854038|REF_RGD_ID:1600042 11765298 IL12B interleukin 12B gene DOID:0111950 immunodeficiency 29 ISO RGD:1353629 D RGD:7240710 20180130 OMIM 11765298 IL12B interleukin 12B gene DOID:0111950 immunodeficiency 29 ISO RGD:1353629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency PMID:11704807|PMID:11753820|PMID:17236132|PMID:17576681|PMID:18449199|PMID:22739501|PMID:23429356|PMID:23575353|PMID:24127073|PMID:25741868|PMID:28492532|PMID:9536098|PMID:9854038 11765298 IL12B interleukin 12B gene DOID:11168 anogenital venereal wart ISO RGD:1353629 D RGD:9068941 20201105 RGD protein:decreased expression:peripheral blood mononuclear cells (human) PMID:23754510|REF_RGD_ID:40400714 11765298 IL12B interleukin 12B gene DOID:11168 anogenital venereal wart treatment ISO RGD:1353629 D RGD:9068941 20200609 RGD PMID:16114559|REF_RGD_ID:7829774 11765298 IL12B interleukin 12B gene DOID:12236 primary biliary cholangitis ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20639880 11765298 IL12B interleukin 12B gene DOID:12385 shigellosis treatment ISO RGD:732857 D RGD:9068941 20201022 RGD PMID:30615126|REF_RGD_ID:39938959 11765298 IL12B interleukin 12B gene DOID:14453 farmer's lung ISO RGD:732857 D RGD:9068941 20200609 RGD PMID:12084045|REF_RGD_ID:4145430 11765298 IL12B interleukin 12B gene DOID:1790 malignant mesothelioma ISO RGD:1353629 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 11765298 IL12B interleukin 12B gene DOID:2841 asthma ISO RGD:1353629 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Asthma, susceptibility to PMID:15322986 11765298 IL12B interleukin 12B gene DOID:2841 asthma severity ISO RGD:1353629 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:12241719|REF_RGD_ID:4145428 11765298 IL12B interleukin 12B gene DOID:2841 asthma severity ISO RGD:1353629 D RGD:9068941 20200609 RGD DNA:polymorphisms:introns: PMID:15322986|REF_RGD_ID:1600043 11765298 IL12B interleukin 12B gene DOID:2841 asthma susceptibility ISO RGD:1353629 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, 3'utr: PMID:16210052|REF_RGD_ID:4145438 11765298 IL12B interleukin 12B gene DOID:3070 high grade glioma ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18176109 11765298 IL12B interleukin 12B gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1353629 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:19279357|REF_RGD_ID:4145423 11765298 IL12B interleukin 12B gene DOID:3770 pulmonary fibrosis ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12193738 11765298 IL12B interleukin 12B gene DOID:3770 pulmonary fibrosis ISO RGD:732857 D RGD:9068941 20200609 RGD PMID:20176803|REF_RGD_ID:4888529 11765298 IL12B interleukin 12B gene DOID:3770 pulmonary fibrosis ISO RGD:732857 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:18598692|REF_RGD_ID:4889581 11765298 IL12B interleukin 12B gene DOID:630 genetic disease ISO RGD:1353629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11765298 IL12B interleukin 12B gene DOID:7147 ankylosing spondylitis ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743469 11765298 IL12B interleukin 12B gene DOID:8577 ulcerative colitis ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438406|PMID:20228799|PMID:21297633 11765298 IL12B interleukin 12B gene DOID:8778 Crohn's disease ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438406 11765298 IL12B interleukin 12B gene DOID:8893 psoriasis ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19169254|PMID:19169255|PMID:20953190 11765298 IL12B interleukin 12B gene DOID:9001488 Human Influenza ISO RGD:732857 D RGD:9068941 20200609 RGD PMID:16389596|REF_RGD_ID:4145426 11765298 IL12B interleukin 12B gene DOID:9002170 Experimental Neoplasms ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17332360 11765298 IL12B interleukin 12B gene DOID:9002395 Hypothermia ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16369138 11765298 IL12B interleukin 12B gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:628704 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lymph node PMID:19233473|REF_RGD_ID:4831840 11765298 IL12B interleukin 12B gene DOID:9003281 Spontaneous Abortions ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11765298 IL12B interleukin 12B gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:1353629 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:+1188A>C (human) PMID:15871664|REF_RGD_ID:14401721 11765298 IL12B interleukin 12B gene DOID:9004484 Sepsis ISO RGD:628704 D RGD:9068941 20200609 RGD protein:increased expression:peritoneal fluid, plasma PMID:15776385|REF_RGD_ID:4888507 11765298 IL12B interleukin 12B gene DOID:9004547 Thyroid Neoplasms ISO RGD:732857 D RGD:9068941 20200609 RGD PMID:10848872|REF_RGD_ID:4145421 11765298 IL12B interleukin 12B gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1353629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Recessive 11765298 IL12B interleukin 12B gene DOID:9004729 Nontuberculous Mycobacterium Infections susceptibility ISO RGD:1353629 D RGD:9068941 20200609 RGD disseminated BCG and Salmonella enteritidis infection, OMIM:209950 DNA:deletion:intron,exon:homozygous 4.4kb deletion encompassing exons 4 and 5 and associated introns PMID:9854038|REF_RGD_ID:1600042 11765298 IL12B interleukin 12B gene DOID:9005968 Neuralgia ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31432094 11765298 IL12B interleukin 12B gene DOID:9007188 Liver Neoplasms ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17326190 11765298 IL12B interleukin 12B gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353629 D RGD:9068941 20230518 CTD CTD Direct Evidence: therapeutic PMID:36520315 11765298 IL12B interleukin 12B gene DOID:9008 psoriatic arthritis ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953186 11765298 IL12B interleukin 12B gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1353629 D RGD:9068941 20200609 RGD DNA:SNP:3'utr: (rs3212227) PMID:25469587|REF_RGD_ID:11074616 11765298 IL12B interleukin 12B gene DOID:9074 systemic lupus erythematosus ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838195|PMID:26808113 11765321 GNRH1 gonadotropin releasing hormone 1 gene DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia ISO RGD:69083 D RGD:7240710 20180130 OMIM 11765321 GNRH1 gonadotropin releasing hormone 1 gene DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia ISO RGD:69083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 12 with or without anosmia | ClinVar Annotator: match by term: Isolated GnRH Deficiency PMID:19535795|PMID:19567835|PMID:26467025|PMID:28492532 11765321 GNRH1 gonadotropin releasing hormone 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19535795 11765321 GNRH1 gonadotropin releasing hormone 1 gene DOID:0110165 Charcot-Marie-Tooth disease type 2E ISO RGD:69083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E PMID:19158810|PMID:20039262|PMID:28492532 11765321 GNRH1 gonadotropin releasing hormone 1 gene DOID:10763 hypertension ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 11765321 GNRH1 gonadotropin releasing hormone 1 gene DOID:11132 prostatic hypertrophy treatment ISO RGD:2720 D RGD:9068941 20200609 RGD PMID:22341819|REF_RGD_ID:10401238 11765321 GNRH1 gonadotropin releasing hormone 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 11765321 GNRH1 gonadotropin releasing hormone 1 gene DOID:12336 male infertility ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20063086 11765321 GNRH1 gonadotropin releasing hormone 1 gene DOID:12700 hyperprolactinemia ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2204052 11765321 GNRH1 gonadotropin releasing hormone 1 gene DOID:13938 amenorrhea ISO RGD:69083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 11765321 GNRH1 gonadotropin releasing hormone 1 gene DOID:1612 breast cancer severity ISO RGD:69083 D RGD:9068941 20200609 RGD DNA:SNP:CDS:16Ser allele associated with decreased disease free survival alone (p=0.05) or in combination with the insLQ allele of LHCGR (p=0.001) PMID:17692113|REF_RGD_ID:2292541 11765321 GNRH1 gonadotropin releasing hormone 1 gene DOID:1924 hypogonadism ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20063086 11765321 GNRH1 gonadotropin releasing hormone 1 gene DOID:1924 hypogonadism treatment ISO RGD:1553302 D RGD:9068941 20200609 RGD PMID:3097822|REF_RGD_ID:9685135 11765321 GNRH1 gonadotropin releasing hormone 1 gene DOID:824 periodontitis ISO RGD:69083 D RGD:9068941 20200609 RGD DNA:snp:exon:c.59C>G (human) PMID:15490304|REF_RGD_ID:9685136 11765321 GNRH1 gonadotropin releasing hormone 1 gene DOID:9000053 Headache ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12910066 11765321 GNRH1 gonadotropin releasing hormone 1 gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19261682 11765321 GNRH1 gonadotropin releasing hormone 1 gene DOID:9002395 Hypothermia ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 11765321 GNRH1 gonadotropin releasing hormone 1 gene DOID:9002554 Tachycardia ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 11765321 GNRH1 gonadotropin releasing hormone 1 gene DOID:9007001 Bradycardia ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:6350720 11765321 GNRH1 gonadotropin releasing hormone 1 gene DOID:9007284 Precocious Puberty ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18345393 11765321 GNRH1 gonadotropin releasing hormone 1 gene DOID:9008385 Vomiting ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12910066 11765337 IFT43 intraflagellar transport 43 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1602079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy 11765337 IFT43 intraflagellar transport 43 gene DOID:0050577 cranioectodermal dysplasia ISO RGD:1602079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 11765337 IFT43 intraflagellar transport 43 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1602079 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:25741868|PMID:28400947|PMID:28492532|PMID:29068549 11765337 IFT43 intraflagellar transport 43 gene DOID:0080292 retinitis pigmentosa 81 ISO RGD:1602079 D RGD:7240710 20190315 OMIM 11765337 IFT43 intraflagellar transport 43 gene DOID:0080292 retinitis pigmentosa 81 ISO RGD:1602079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 81 PMID:16199547|PMID:21378380|PMID:25741868|PMID:28400947|PMID:28492532|PMID:28973684 11765337 IFT43 intraflagellar transport 43 gene DOID:0080293 short-rib thoracic dysplasia 18 with polydactyly ISO RGD:1602079 D RGD:7240710 20190315 OMIM 11765337 IFT43 intraflagellar transport 43 gene DOID:0080293 short-rib thoracic dysplasia 18 with polydactyly ISO RGD:1602079 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 18 with polydactyly PMID:25741868|PMID:28400947|PMID:28492532 11765337 IFT43 intraflagellar transport 43 gene DOID:0080805 cranioectodermal dysplasia 3 ISO RGD:1602079 D RGD:7240710 20180130 OMIM 11765337 IFT43 intraflagellar transport 43 gene DOID:0080805 cranioectodermal dysplasia 3 ISO RGD:1602079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 3 PMID:17576681|PMID:21378380|PMID:24027799|PMID:25741868|PMID:26489029|PMID:28400947|PMID:28492532|PMID:29896747|PMID:9536098 11765337 IFT43 intraflagellar transport 43 gene DOID:10283 prostate cancer ISO RGD:1602079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11765337 IFT43 intraflagellar transport 43 gene DOID:1059 intellectual disability ISO RGD:1602079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11765337 IFT43 intraflagellar transport 43 gene DOID:630 genetic disease ISO RGD:1602079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11765337 IFT43 intraflagellar transport 43 gene DOID:65 connective tissue disease ISO RGD:1602079 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:16199547|PMID:21378380|PMID:25741868|PMID:28400947|PMID:28492532 11765358 PAPSS1 3'-phosphoadenosine 5'-phosphosulfate synthase 1 gene DOID:0080600 COVID-19 ISO RGD:1317646 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11765358 PAPSS1 3'-phosphoadenosine 5'-phosphosulfate synthase 1 gene DOID:630 genetic disease ISO RGD:1317646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765385 HMGB3 high mobility group box 3 gene DOID:0050760 X-linked myopathy with excessive autophagy ISO RGD:1350742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 11765385 HMGB3 high mobility group box 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11765385 HMGB3 high mobility group box 3 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:1350742 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 11765385 HMGB3 high mobility group box 3 gene DOID:0111811 syndromic microphthalmia 13 ISO RGD:1350742 D RGD:7240710 20180130 OMIM 11765385 HMGB3 high mobility group box 3 gene DOID:11054 urinary bladder cancer ISO RGD:1350742 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30639441 11765385 HMGB3 high mobility group box 3 gene DOID:12849 autistic disorder ISO RGD:1350742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11765385 HMGB3 high mobility group box 3 gene DOID:630 genetic disease ISO RGD:1350742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765393 NCOA4 nuclear receptor coactivator 4 gene DOID:10283 prostate cancer ISO RGD:1348400 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland PMID:12368219|REF_RGD_ID:2293535 11765393 NCOA4 nuclear receptor coactivator 4 gene DOID:10283 prostate cancer severity ISO RGD:1348400 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:15166229|REF_RGD_ID:2293534 11765393 NCOA4 nuclear receptor coactivator 4 gene DOID:11372 megacolon ISO RGD:1348400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11765393 NCOA4 nuclear receptor coactivator 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:1348400 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:16580389|REF_RGD_ID:2293533 11765393 NCOA4 nuclear receptor coactivator 4 gene DOID:3008 invasive ductal carcinoma ISO RGD:1348400 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:11561770|REF_RGD_ID:2293536 11765393 NCOA4 nuclear receptor coactivator 4 gene DOID:4001 ovarian carcinoma ISO RGD:1348400 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:11161850|REF_RGD_ID:2293537 11765393 NCOA4 nuclear receptor coactivator 4 gene DOID:630 genetic disease ISO RGD:1348400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765393 NCOA4 nuclear receptor coactivator 4 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1348400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23811263 11765451 LOC103786729 zinc finger protein 813 gene DOID:630 genetic disease ISO RGD:5013859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765457 LILRA1 leukocyte immunoglobulin like receptor A1 gene DOID:630 genetic disease ISO RGD:1348933 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765476 PRSS48 serine protease 48 gene DOID:4990 essential tremor ISO RGD:1605534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 11765476 PRSS48 serine protease 48 gene DOID:630 genetic disease ISO RGD:1605534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765493 SCD stearoyl-CoA desaturase gene DOID:0080600 COVID-19 ISO RGD:735301 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11765493 SCD stearoyl-CoA desaturase gene DOID:0081120 Graves ophthalmopathy ISO RGD:735301 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17614770 11765493 SCD stearoyl-CoA desaturase gene DOID:2018 hyperinsulinism ISO RGD:621176 D RGD:9068941 20200609 RGD associated with Obesity PMID:16284748|REF_RGD_ID:1580005 11765493 SCD stearoyl-CoA desaturase gene DOID:305 carcinoma ISO RGD:621176 D RGD:9068941 20200609 RGD PMID:12419843|REF_RGD_ID:633981 11765493 SCD stearoyl-CoA desaturase gene DOID:305 carcinoma ISO RGD:735301 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 11765493 SCD stearoyl-CoA desaturase gene DOID:630 genetic disease ISO RGD:735301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765493 SCD stearoyl-CoA desaturase gene DOID:684 hepatocellular carcinoma ISO RGD:735301 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 11765493 SCD stearoyl-CoA desaturase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735301 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 11765493 SCD stearoyl-CoA desaturase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735301 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 11765493 SCD stearoyl-CoA desaturase gene DOID:9007188 Liver Neoplasms ISO RGD:735301 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12419843 11765493 SCD stearoyl-CoA desaturase gene DOID:9455 lipid storage disease ISO RGD:735301 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21123845 11765503 RBFOX3 RNA binding fox-1 homolog 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11765503 RBFOX3 RNA binding fox-1 homolog 3 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1603898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:29358611 11765503 RBFOX3 RNA binding fox-1 homolog 3 gene DOID:3454 brain infarction ISO RGD:1560070 D RGD:9068941 20221027 RGD protein:altered expression:brain (rat) PMID:12161747|REF_RGD_ID:155630606 11765503 RBFOX3 RNA binding fox-1 homolog 3 gene DOID:630 genetic disease ISO RGD:1603898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11765503 RBFOX3 RNA binding fox-1 homolog 3 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1603898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 11765522 POLRMT RNA polymerase mitochondrial gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1312131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 11765522 POLRMT RNA polymerase mitochondrial gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:1312131 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:25741868 11765522 POLRMT RNA polymerase mitochondrial gene DOID:2843 long QT syndrome ISO RGD:1312131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11765522 POLRMT RNA polymerase mitochondrial gene DOID:5339 cyclic hematopoiesis ISO RGD:1312131 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11765522 POLRMT RNA polymerase mitochondrial gene DOID:630 genetic disease ISO RGD:1312131 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11765522 POLRMT RNA polymerase mitochondrial gene DOID:9001375 Combined Oxidative Phosphorylation Deficiency 55 ISO RGD:1312131 D RGD:7240710 20220223 OMIM 11765522 POLRMT RNA polymerase mitochondrial gene DOID:9001375 Combined Oxidative Phosphorylation Deficiency 55 ISO RGD:1312131 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 55 PMID:25741868|PMID:28492532|PMID:33602924 11765548 POPDC2 popeye domain containing 2 gene DOID:630 genetic disease ISO RGD:1352577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:0050700 cardiomyopathy ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28445944 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:0060186 chemical colitis severity ISO RGD:1550521 D RGD:9068941 20201203 RGD Ace2 inhibitor PMID:19517214|REF_RGD_ID:40818410 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:0060186 chemical colitis severity ISO RGD:1550521 D RGD:9068941 20201203 RGD Ace2 knockout PMID:22837003|REF_RGD_ID:40818307 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:0060903 thrombosis treatment ISO RGD:728890 D RGD:9068941 20200609 RGD PMID:20111697|REF_RGD_ID:9685451 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1347174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:0080599 Coronavirus infectious disease ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14647384|PMID:16007097|PMID:19453650|PMID:19625462|PMID:22496216|PMID:23678171|PMID:24172901|PMID:24227843|PMID:25187545 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:0080600 COVID-19 ISO RGD:1347174 D RGD:9068941 20200625 RGD human gene in a mouse model PMID:32380511|REF_RGD_ID:30310239 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:0080600 COVID-19 ISO RGD:1347174 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:31996437|PMID:32061198|PMID:32081428|PMID:32092392|PMID:32117569|PMID:32129518|PMID:32132184|PMID:32133153|PMID:32142651|PMID:32149769|PMID:32201080|PMID:32203189|PMID:32275855|PMID:32286790|PMID:32404436 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:0080600 COVID-19 ISO RGD:1550521 D RGD:9068941 20220825 MouseDO 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:0080600 COVID-19 severity ISO RGD:1347174 D RGD:9068941 20200702 RGD DNA:insertion/deletion:intron 16: PMID:32220422|REF_RGD_ID:32716393 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:0080600 COVID-19 severity ISO RGD:1347174 D RGD:9068941 20220121 RGD PMID:34668775|PMID:34668780|REF_RGD_ID:151347432|REF_RGD_ID:151347433 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:10763 hypertension ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12075344|PMID:15833808|PMID:17473847|PMID:18391097|PMID:19221212|PMID:20559404|PMID:21859683 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:10763 hypertension ISO RGD:1347174 D RGD:9068941 20200609 RGD DNA:SNP:intron:8790A>G, associated with Metabolic Syndrome X (MeSH:D024821) PMID:16459167|REF_RGD_ID:1642828 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:10763 hypertension ISO RGD:728890 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:aorta PMID:20854846|REF_RGD_ID:9685442 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:10763 hypertension ISO RGD:728890 D RGD:9068941 20201120 RGD mRNA, protein:decreased expression:kidney (rat) PMID:12075344|REF_RGD_ID:629626 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:10763 hypertension treatment ISO RGD:1550521 D RGD:9068941 20200609 RGD PMID:16788004|REF_RGD_ID:9685435 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:10763 hypertension treatment ISO RGD:728890 D RGD:9068941 20200609 RGD PMID:17345786|REF_RGD_ID:9685433 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22009550 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1347174 D RGD:9068941 20201117 RGD mRNA, protein:increased expression:myocardium (human) PMID:32448590|REF_RGD_ID:40818260 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:12236 primary biliary cholangitis ISO RGD:728890 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:17532087|REF_RGD_ID:9685452 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:1273 respiratory syncytial virus infectious disease severity ISO RGD:1550521 D RGD:9068941 20200626 RGD PMID:26813885|REF_RGD_ID:32716392 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:1273 respiratory syncytial virus infectious disease treatment ISO RGD:1347174 D RGD:9068941 20200626 RGD human protein in a mouse model PMID:26813885|REF_RGD_ID:32716392 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:12849 autistic disorder ISO RGD:1347174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:12932 endomyocardial fibrosis ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19221212 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16723697 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:13636 Fanconi anemia ISO RGD:1347174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:14069 cerebral malaria susceptibility ISO RGD:1347174 D RGD:9068941 20201120 RGD DNA:SNP:intron 1: C>T PMID:20117248|REF_RGD_ID:40818420 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:1686 glaucoma treatment ISO RGD:728890 D RGD:9068941 20200609 RGD PMID:23702784|REF_RGD_ID:9685447 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:2030 anxiety disorder ISO RGD:1347174 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:26767952 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14647384|PMID:16007097|PMID:16166518|PMID:16339146|PMID:19453650|PMID:19625462|PMID:23678171|PMID:24172901|PMID:24227843|PMID:26801988|PMID:31996437|PMID:32092392|PMID:32201080 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1550521 D RGD:9068941 20200625 RGD mRNA:decreased expression:lung (mouse) PMID:32339157|REF_RGD_ID:30310237 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1550521 D RGD:9068941 20201120 RGD mRNA, protein:decreased expression:heart (mouse) PMID:19453650|REF_RGD_ID:40818405 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1550521 D RGD:9068941 20200618 RGD PMID:16007097|REF_RGD_ID:30309202 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:2945 severe acute respiratory syndrome susceptibility ISO RGD:1347174 D RGD:9068941 20200625 RGD human gene in a mouse model PMID:17974127|REF_RGD_ID:30309965 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1347174 D RGD:9068941 20200702 RGD human gene in a mouse model PMID:32553273|REF_RGD_ID:32716426 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:728890 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:24090950|REF_RGD_ID:9685436 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1347174 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:19212105|REF_RGD_ID:2325210 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1347174 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:27550926|PMID:33007385 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1550521 D RGD:9068941 20200609 RGD PMID:20581171|REF_RGD_ID:4140483 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:4492 avian influenza severity ISO RGD:1550521 D RGD:9068941 20200626 RGD PMID:24800825|REF_RGD_ID:32716391 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:4492 avian influenza treatment ISO RGD:1347174 D RGD:9068941 20200626 RGD human protein in a mouse model PMID:24800825|REF_RGD_ID:32716391 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:5844 myocardial infarction ISO RGD:728890 D RGD:9068941 20200609 RGD mRNA:increased expression:myocardium PMID:15671045|REF_RGD_ID:1558664 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:5844 myocardial infarction treatment ISO RGD:728890 D RGD:9068941 20200609 RGD PMID:23959549|REF_RGD_ID:9685449 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:6000 congestive heart failure ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25973029 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:6000 congestive heart failure ISO RGD:1347174 D RGD:9068941 20201127 RGD mRNA, protein:increased expression:heart (human) PMID:32227090|REF_RGD_ID:40818416 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:6000 congestive heart failure ISO RGD:1550521 D RGD:9068941 20220825 MouseDO 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:630 genetic disease ISO RGD:1347174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:6432 pulmonary hypertension ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31931441 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:6432 pulmonary hypertension treatment ISO RGD:1347174 D RGD:9068941 20201118 RGD human protein in a rat model PMID:25225206|REF_RGD_ID:40818280 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25301841 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:850 lung disease ISO RGD:728890 D RGD:9068941 20200609 RGD associated with Poisoning;mRNA:decreased expression:lung PMID:20465954|REF_RGD_ID:4140485 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:874 bacterial pneumonia ISO RGD:1550521 D RGD:9068941 20201117 RGD associated with Pseudomonas Infections;mRNA, protein:altered expression, altered activity:lung (mouse) PMID:31645418|REF_RGD_ID:40818279 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:8947 diabetic retinopathy ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31380462 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:8947 diabetic retinopathy treatment ISO RGD:1347174 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21792177|REF_RGD_ID:8548900 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:8947 diabetic retinopathy treatment ISO RGD:1347174 D RGD:9068941 20201117 RGD human gene in a mouse model PMID:31380462|REF_RGD_ID:40818278 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:9000310 Lung Injury ISO RGD:1347174 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16001071|PMID:19864379|PMID:20484496|PMID:33007385 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1347174 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :8790G>A (human) PMID:18753062|REF_RGD_ID:2313798 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:728890 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:19793108|REF_RGD_ID:2316776 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:728890 D RGD:9068941 20201117 RGD mRNA, protein:increased expression, increased activity:liver (rat) PMID:16166274|REF_RGD_ID:40818265 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:9001650 Pregnancy-Induced Hypertension ISO RGD:728890 D RGD:9068941 20200609 RGD PMID:17977916|REF_RGD_ID:8548898 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:9001981 Weight Loss ISO RGD:1347174 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33007385 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12623933|PMID:17600118|PMID:20844835 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1347174 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin Dependent;mRNA, protein:decreased expression:kidney PMID:19034303|REF_RGD_ID:2313797 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1347174 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:kidney PMID:19077419|REF_RGD_ID:2313796 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1550521 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18235039|REF_RGD_ID:2313800 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:1347174 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphisms: :multiple (human) PMID:18235039|REF_RGD_ID:2313800 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:9002721 Hypertensive Nephrosclerosis severity ISO RGD:1347174 D RGD:9068941 20201203 RGD mRNA, protein:decreased expression, increased expression:nephron tubule, kidney interstitium (human) PMID:21346373|REF_RGD_ID:40818408 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:728890 D RGD:9068941 20200609 RGD associated with Hypertension PMID:21148624|REF_RGD_ID:9685434 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:9004531 Cardiovirus Infections ISO RGD:1550521 D RGD:9068941 20201127 RGD encephalomyocarditis virus;mRNA, protein:decreased expression, increased expression:heart (mouse) PMID:19453650|REF_RGD_ID:40818405 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:9004610 Acute Lung Injury ISO RGD:1347174 D RGD:9068941 20210115 CTD CTD Direct Evidence: therapeutic PMID:27302421 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:9004610 Acute Lung Injury ISO RGD:1550521 D RGD:9068941 20201203 RGD associated with avian influenza;protein:decreased expression:lung (mouse) PMID:25391767|REF_RGD_ID:40818412 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:9004610 Acute Lung Injury severity ISO RGD:1550521 D RGD:9068941 20200626 RGD PMID:16001071|REF_RGD_ID:32716389 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1347174 D RGD:9068941 20200626 RGD human protein in a mouse model PMID:16001071|REF_RGD_ID:32716389 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1550521 D RGD:9068941 20201120 RGD associated with Escherichia coli Infections PMID:29990483|REF_RGD_ID:40400897 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:728890 D RGD:9068941 20200609 RGD PMID:18544849|REF_RGD_ID:9685455 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:9005372 Inflammation ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19453650 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:728890 D RGD:9068941 20200609 RGD protein:altered expression:kidney PMID:18679036|REF_RGD_ID:2313799 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:9005883 Pleural Effusion ISO RGD:1347174 D RGD:9068941 20201203 RGD associated with tuberculosis;protein:decreased activity:pleural fluid (human) PMID:23091417|REF_RGD_ID:40818411 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:728890 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:20528771|REF_RGD_ID:9685432 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:9006642 Experimental Autoimmune Uveoretinitis treatment ISO RGD:1347174 D RGD:9068941 20201117 RGD human gene in a mouse model PMID:25228068|REF_RGD_ID:40818264 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:728890 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22595130|REF_RGD_ID:9685456 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:9007174 Ventricular Remodeling treatment ISO RGD:1550521 D RGD:9068941 20200609 RGD associated with Diabetic Cardiomyopathies PMID:22340266|REF_RGD_ID:9685428 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:9007174 Ventricular Remodeling treatment ISO RGD:1550521 D RGD:9068941 20200609 RGD associated with Myocardial Infarction PMID:20507236|REF_RGD_ID:9685439 11765567 ACE2 angiotensin converting enzyme 2 gene DOID:9007174 Ventricular Remodeling treatment ISO RGD:728890 D RGD:9068941 20200609 RGD associated with Acute Kidney Injury PMID:18223026|REF_RGD_ID:9685440 11765592 RUNX2 RUNX family transcription factor 2 gene DOID:0050328 congenital hypothyroidism ISO RGD:735753 D RGD:9068941 20220825 MouseDO 11765592 RUNX2 RUNX family transcription factor 2 gene DOID:0060001 withdrawal disorder ISO RGD:1348975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 11765592 RUNX2 RUNX family transcription factor 2 gene DOID:0081025 retinal cone dystrophy 3A ISO RGD:1348975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal cone dystrophy 3A PMID:15629837 11765592 RUNX2 RUNX family transcription factor 2 gene DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome ISO RGD:1348975 D RGD:7240710 20180130 OMIM 11765592 RUNX2 RUNX family transcription factor 2 gene DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome ISO RGD:1348975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome PMID:10521292|PMID:11857736|PMID:16140555|PMID:23290074|PMID:25741868|PMID:28492532|PMID:29891876 11765592 RUNX2 RUNX family transcription factor 2 gene DOID:1184 nephrotic syndrome ISO RGD:1348975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 11765592 RUNX2 RUNX family transcription factor 2 gene DOID:13994 cleidocranial dysplasia ISO RGD:1348975 D RGD:7240710 20180130 OMIM 11765592 RUNX2 RUNX family transcription factor 2 gene DOID:13994 cleidocranial dysplasia ISO RGD:1348975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cleidocranial dysostosis | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, with brachydactyly PMID:10521292|PMID:10545612|PMID:10980549|PMID:11768584|PMID:11857736|PMID:12081718|PMID:12196916|PMID:12424590|PMID:15629837|PMID:15952089|PMID:16221346|PMID:19515746|PMID:19767586|PMID:20648631|PMID:20702542|PMID:21734816|PMID:22023169|PMID:23290074|PMID:24138303|PMID:24222232|PMID:24634175|PMID:25741868|PMID:26380986|PMID:27993330|PMID:28056872|PMID:28492532|PMID:28505335|PMID:28738062|PMID:29891876|PMID:30391578|PMID:31548836|PMID:32360898|PMID:33987976|PMID:9182765|PMID:9207800 11765592 RUNX2 RUNX family transcription factor 2 gene DOID:3347 osteosarcoma ISO RGD:1348975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24646477|PMID:25307878 11765592 RUNX2 RUNX family transcription factor 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1348975 D RGD:9068941 20210409 RGD mRNA:increased expression:esophagus mucosa PMID:18500170|REF_RGD_ID:126779568 11765592 RUNX2 RUNX family transcription factor 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1348975 D RGD:9068941 20220623 RGD human cells in mouse model PMID:30780105|REF_RGD_ID:152995466 11765592 RUNX2 RUNX family transcription factor 2 gene DOID:4676 uremia ISO RGD:1348975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 11765592 RUNX2 RUNX family transcription factor 2 gene DOID:630 genetic disease ISO RGD:1348975 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10521292|PMID:20648631|PMID:25741868|PMID:28492532 11765592 RUNX2 RUNX family transcription factor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1348975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 11765592 RUNX2 RUNX family transcription factor 2 gene DOID:8398 osteoarthritis ISO RGD:1348975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 11765592 RUNX2 RUNX family transcription factor 2 gene DOID:9000380 Spondylarthritis ISO RGD:1348975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 11765592 RUNX2 RUNX family transcription factor 2 gene DOID:9002589 Bone Fractures ISO RGD:2282 D RGD:9068941 20200609 RGD PMID:21252473|REF_RGD_ID:11252151 11765592 RUNX2 RUNX family transcription factor 2 gene DOID:9003295 Heterotopic Ossification ISO RGD:2282 D RGD:9068941 20200609 RGD PMID:19940863|REF_RGD_ID:12880052 11765592 RUNX2 RUNX family transcription factor 2 gene DOID:9004912 Hyperoxaluria ISO RGD:2282 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:26122267|REF_RGD_ID:11251713 11765592 RUNX2 RUNX family transcription factor 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1348975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 11765592 RUNX2 RUNX family transcription factor 2 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1348975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 11765592 RUNX2 RUNX family transcription factor 2 gene DOID:9006733 Stomatognathic System Abnormalities ISO RGD:1348975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20357738 11765592 RUNX2 RUNX family transcription factor 2 gene DOID:9008 psoriatic arthritis ISO RGD:1348975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 11765592 RUNX2 RUNX family transcription factor 2 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1348975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868 11765592 RUNX2 RUNX family transcription factor 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1348975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14688224 11765592 RUNX2 RUNX family transcription factor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1348975 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:32198086 11765592 RUNX2 RUNX family transcription factor 2 gene DOID:9009007 Tooth Abnormalities ISO RGD:1348975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14688224 11765592 RUNX2 RUNX family transcription factor 2 gene DOID:9256 colorectal cancer ISO RGD:1348975 D RGD:9068941 20210409 RGD PMID:25925209|REF_RGD_ID:126779569 11765625 BSX brain specific homeobox gene DOID:5419 schizophrenia ISO RGD:1626189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11765625 BSX brain specific homeobox gene DOID:630 genetic disease ISO RGD:1626189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765625 BSX brain specific homeobox gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1626189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11765625 BSX brain specific homeobox gene DOID:9007661 Dwarfism ISO RGD:1626189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11765630 SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 gene DOID:0112367 Coffin-Siris syndrome 8 ISO RGD:1315563 D RGD:7240710 20190424 OMIM 11765630 SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 gene DOID:0112367 Coffin-Siris syndrome 8 ISO RGD:1315563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 8 | ClinVar Annotator: match by term: SMARCC2-related condition PMID:23556151|PMID:25590979|PMID:25741868|PMID:27620904|PMID:30580808 11765630 SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 gene DOID:10283 prostate cancer ISO RGD:1315563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11765630 SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 gene DOID:1059 intellectual disability ISO RGD:1315563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11765630 SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 gene DOID:630 genetic disease ISO RGD:1315563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30580808 11765630 SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11765630 SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 gene DOID:9006063 Zimmermann-Laband Syndrome 3 ISO RGD:1315563 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Zimmermann-laband syndrome 3 PMID:25741868 11765674 RFWD3 ring finger and WD repeat domain 3 gene DOID:607 paraplegia ISO RGD:1349611 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11765674 RFWD3 ring finger and WD repeat domain 3 gene DOID:630 genetic disease ISO RGD:1349611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11765674 RFWD3 ring finger and WD repeat domain 3 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1349611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23666239 11765674 RFWD3 ring finger and WD repeat domain 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11765674 RFWD3 ring finger and WD repeat domain 3 gene DOID:9009064 Fanconi Anemia Complementation Group W ISO RGD:1349611 D RGD:7240710 20190315 OMIM 11765674 RFWD3 ring finger and WD repeat domain 3 gene DOID:9009064 Fanconi Anemia Complementation Group W ISO RGD:1349611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia, complementation group W PMID:25741868|PMID:26474068|PMID:28492532|PMID:28691929|PMID:33044890 11765697 RIPPLY1 ripply transcriptional repressor 1 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1641968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 11765697 RIPPLY1 ripply transcriptional repressor 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1641968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11765697 RIPPLY1 ripply transcriptional repressor 1 gene DOID:12849 autistic disorder ISO RGD:1641968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11765697 RIPPLY1 ripply transcriptional repressor 1 gene DOID:630 genetic disease ISO RGD:1641968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765706 GAL3ST1 galactose-3-O-sulfotransferase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1350287 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11765706 GAL3ST1 galactose-3-O-sulfotransferase 1 gene DOID:630 genetic disease ISO RGD:1350287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:0050753 cerebellar ataxia ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:19289823|PMID:19420365|PMID:20651251|PMID:20807765|PMID:32581362 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:0060178 familial hemiplegic migraine ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:0060484 EAST syndrome ISO RGD:731912 D RGD:7240710 20180130 OMIM 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:0060484 EAST syndrome ISO RGD:731912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: EAST syndrome | ClinVar Annotator: match by term: Epilepsy, ataxia, sensorineural deafness and tubulopathy | ClinVar Annotator: match by term: SeSAME-like syndrome | ClinVar Annotator: match by term: Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome PMID:19289823|PMID:19420365|PMID:19426954|PMID:20651251|PMID:20678478|PMID:20807765|PMID:21088294|PMID:21221631|PMID:21458570|PMID:21849804|PMID:22612257|PMID:22782654|PMID:23869231|PMID:23918157|PMID:23924083|PMID:23965030|PMID:24193250|PMID:24378235|PMID:24480364|PMID:24561201|PMID:24860705|PMID:25372295|PMID:25741868|PMID:26467025|PMID:26867573|PMID:27171548|PMID:27182706|PMID:27500072|PMID:27535533|PMID:27677466|PMID:27875746|PMID:27884173|PMID:28492532|PMID:28747464|PMID:28835827|PMID:29191078|PMID:29615871|PMID:30304693|PMID:30733538|PMID:32062759|PMID:32233732|PMID:32581362|PMID:33084218 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:0060744 Pendred syndrome ISO RGD:731912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome PMID:19289823|PMID:20651251|PMID:20678478|PMID:20807765|PMID:21088294|PMID:21458570|PMID:21849804|PMID:22612257|PMID:23869231|PMID:23924083|PMID:24193250|PMID:24561201|PMID:25741868|PMID:26467025|PMID:26867573|PMID:27171548|PMID:27677466|PMID:27875746|PMID:28492532|PMID:28747464|PMID:32062759 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:731912 D RGD:7240710 20180130 OMIM 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:731912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-Related Disorders | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 PMID:19289823|PMID:19426954|PMID:20651251|PMID:20678478|PMID:20807765|PMID:21088294|PMID:21458570|PMID:21849804|PMID:22612257|PMID:23869231|PMID:23918157|PMID:23924083|PMID:24193250|PMID:24378235|PMID:24561201|PMID:24860705|PMID:25372295|PMID:25741868|PMID:26467025|PMID:26867573|PMID:27171548|PMID:27677466|PMID:27875746|PMID:28492532|PMID:28747464|PMID:30733538|PMID:32062759|PMID:32233732 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:10003 sensorineural hearing loss ISO RGD:61822 D RGD:9068941 20200609 RGD protein:decreased expression:cochlea: PMID:23827367|REF_RGD_ID:7349365 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:1059 intellectual disability ISO RGD:731912 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23869231|PMID:24378235|PMID:25741868|PMID:26467025|PMID:27677466|PMID:27875746|PMID:28492532 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:1206 Rett syndrome ISO RGD:62113 D RGD:9068941 20200609 RGD protein:increased expression:locus ceruleus PMID:21307341|REF_RGD_ID:8662896 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:12849 autistic disorder ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21458570|PMID:23965030|PMID:25741868|PMID:26467025|PMID:27182706|PMID:27535533|PMID:27677466|PMID:27884173|PMID:28492532|PMID:29615871|PMID:30304693 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:13141 uveitis ISO RGD:61822 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:retina PMID:17356517|REF_RGD_ID:8662881 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:1540 parathyroid carcinoma ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:1727 retinal vein occlusion ISO RGD:61822 D RGD:9068941 20200609 RGD PMID:21487926|REF_RGD_ID:5490120 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:1826 epilepsy ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:21458570|PMID:23965030|PMID:24378235|PMID:25741868|PMID:26467025|PMID:27182706|PMID:27535533|PMID:27677466|PMID:27884173|PMID:28492532|PMID:29615871|PMID:30304693 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:1826 epilepsy ISO RGD:731912 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:24378235|PMID:26467025|PMID:28492532 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:224 transient cerebral ischemia ISO RGD:61822 D RGD:9068941 20200609 RGD protein:decreased expression:CA1 field of hippocampus, astrocyte, astrocyte projection PMID:20833221|REF_RGD_ID:8662899 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:2377 multiple sclerosis ISO RGD:731912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24070676 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:2548 reflex epilepsy treatment ISO RGD:61822 D RGD:9068941 20200609 RGD PMID:30813600|REF_RGD_ID:14995940 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:2661 myoepithelioma ISO RGD:731912 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:3213 demyelinating disease ISO RGD:62113 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, blood vessel PMID:24070676|REF_RGD_ID:8662892 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:61822 D RGD:9068941 20200609 RGD protein:decreased expression:brainstem PMID:22987392|REF_RGD_ID:8662893 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:574 peripheral nervous system disease ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:630 genetic disease ISO RGD:731912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19289823|PMID:20651251|PMID:20678478|PMID:20807765|PMID:21088294|PMID:21221631|PMID:21458570|PMID:23869231|PMID:23918157|PMID:23924083|PMID:23965030|PMID:24193250|PMID:24378235|PMID:24480364|PMID:24860705|PMID:25372295|PMID:25741868|PMID:26467025|PMID:27171548|PMID:27182706|PMID:27500072|PMID:27535533|PMID:27677466|PMID:27875746|PMID:27884173|PMID:28492532|PMID:29191078|PMID:29615871|PMID:30304693|PMID:32062759|PMID:32233732 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:61822 D RGD:9068941 20200609 RGD protein:decreased expression:dorsal plus ventral thalamus, cerebral cortex, astrocyte projection PMID:23603404|REF_RGD_ID:8662897 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:8466 retinal degeneration ISO RGD:61822 D RGD:9068941 20200609 RGD PMID:22055109|REF_RGD_ID:8662888 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:870 neuropathy ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:8947 diabetic retinopathy treatment ISO RGD:61822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21672350|PMID:22143324|REF_RGD_ID:8662869|REF_RGD_ID:8662907 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:9000039 Spinal Cord Injuries ISO RGD:61822 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:20375134|REF_RGD_ID:8662905 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:61822 D RGD:9068941 20200609 RGD PMID:22420318|REF_RGD_ID:8662908 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:9000998 Brain Injuries ISO RGD:61822 D RGD:9068941 20200609 RGD PMID:20861444|REF_RGD_ID:8662901 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:61822 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina PMID:16330144|REF_RGD_ID:8662868 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:62113 D RGD:9068941 20200609 RGD protein:decreased expression:retina, blood vessel PMID:20132867|REF_RGD_ID:8662890 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:9004538 Hearing Loss ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:25741868|PMID:26467025|PMID:27171548|PMID:28492532 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:9004590 Acute Liver Failure ISO RGD:61822 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cerebral cortex PMID:21538466|REF_RGD_ID:8662894 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:9006534 Nervous System Malformations ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:9008091 Optic Nerve Injuries ISO RGD:61822 D RGD:9068941 20200609 RGD PMID:20216911|REF_RGD_ID:2326035 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:9008681 Deafness ISO RGD:62113 D RGD:9068941 20200609 RGD PMID:12618319|REF_RGD_ID:8662867 11765725 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11765731 ZSWIM9 zinc finger SWIM-type containing 9 gene DOID:11612 polycystic ovary syndrome ISO RGD:1602629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11765746 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:0050758 metabolic acidosis ISO RGD:736480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metabolic acidosis PMID:25741868 11765746 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:0080600 COVID-19 ISO RGD:736480 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11765746 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:0111277 mitochondrial trifunctional protein deficiency ISO RGD:736480 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency PMID:12754706|PMID:15902556|PMID:16199547|PMID:16423905|PMID:16523289|PMID:17143551|PMID:17576681|PMID:19699128|PMID:19880769|PMID:21549624|PMID:22494545|PMID:23757202|PMID:24033266|PMID:24314034|PMID:24664533|PMID:25741868|PMID:26109258|PMID:27014569|PMID:27491397|PMID:28492532|PMID:28515471|PMID:28871440|PMID:29956646|PMID:30682426|PMID:31130284|PMID:34578803|PMID:8651282|PMID:9259266|PMID:9536098 11765746 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:736480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11765746 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:736480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:24314034 11765746 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:10652 Alzheimer's disease ISO RGD:736480 D RGD:9068941 20200609 RGD protein:decreased_expression:vascular smooth muscle cells:little or no expression in VSMCs in arteries with amyloid deposits PMID:11430884|REF_RGD_ID:1600786 11765746 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:114 heart disease ISO RGD:736480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17116638 11765746 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:3146 lipid metabolism disorder ISO RGD:736480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17116638 11765746 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:630 genetic disease ISO RGD:736480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11765746 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:700 mitochondrial metabolism disease ISO RGD:736480 D RGD:9068941 20200609 RGD Mitochondrial trifunctional protein deficiency, OMIM:609015; DNA:point_mutations:CDS:compound heterozygote 182G>A amino acid R61H, and 740G>A amino acid R247H PMID:8651282|REF_RGD_ID:1600779 11765746 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:9002828 Mitochondrial Trifunctional Protein Deficiency 2 ISO RGD:736480 D RGD:7240710 20230505 OMIM 11765746 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:9002828 Mitochondrial Trifunctional Protein Deficiency 2 ISO RGD:736480 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency 2 | ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency 2 with myopathy and neuropathy PMID:12754706|PMID:16423905|PMID:19699128|PMID:19880769|PMID:24664533|PMID:25741868|PMID:28492532|PMID:28515471|PMID:29956646|PMID:8163672|PMID:8651282|PMID:9259266 11765746 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:9002882 Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:736480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 11765746 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:9008939 Breast Neoplasms ISO RGD:736480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 11765746 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:9452 fatty liver disease ISO RGD:736480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17116638 11765766 DACH1 dachshund family transcription factor 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1606339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11765766 DACH1 dachshund family transcription factor 1 gene DOID:630 genetic disease ISO RGD:1606339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765795 KCTD20 potassium channel tetramerization domain containing 20 gene DOID:0050553 JMP syndrome ISO RGD:1320472 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11765795 KCTD20 potassium channel tetramerization domain containing 20 gene DOID:630 genetic disease ISO RGD:1320472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765820 CALM2 calmodulin 2 gene DOID:0080600 COVID-19 ISO RGD:736342 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 11765820 CALM2 calmodulin 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:736342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:23388215|PMID:24917665|PMID:25741868|PMID:27100291|PMID:27114410|PMID:27165696|PMID:27516456|PMID:28335032|PMID:28492532|PMID:31283864 11765820 CALM2 calmodulin 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:736342 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:17576681|PMID:23388215|PMID:24917665|PMID:25741868|PMID:26969752|PMID:27516456|PMID:27765793|PMID:28492532|PMID:9536098 11765820 CALM2 calmodulin 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:736342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:11569915|PMID:17576681|PMID:23388215|PMID:24917665|PMID:25741868|PMID:26164367|PMID:26969752|PMID:27100291|PMID:27114410|PMID:27165696|PMID:27374306|PMID:27516456|PMID:27765793|PMID:28335032|PMID:28492532|PMID:30348784|PMID:30354306|PMID:31283864|PMID:32383558|PMID:9536098 11765820 CALM2 calmodulin 2 gene DOID:0110656 long QT syndrome 15 ISO RGD:736342 D RGD:7240710 20180130 OMIM 11765820 CALM2 calmodulin 2 gene DOID:0110656 long QT syndrome 15 ISO RGD:736342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 15 PMID:11569915|PMID:23388215|PMID:24917665|PMID:25741868|PMID:26164367|PMID:26969752|PMID:27100291|PMID:27114410|PMID:27165696|PMID:27516456|PMID:27765793|PMID:28335032|PMID:28492532|PMID:30348784|PMID:31283864|PMID:32383558 11765820 CALM2 calmodulin 2 gene DOID:14671 multiple intestinal atresia ISO RGD:736342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple gastrointestinal atresias PMID:28492532 11765820 CALM2 calmodulin 2 gene DOID:1470 major depressive disorder ISO RGD:736342 D RGD:9068941 20200609 RGD mRNA:decreased expression:frontal association cortex PMID:22885997|REF_RGD_ID:6892958 11765820 CALM2 calmodulin 2 gene DOID:2843 long QT syndrome ISO RGD:736342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:11569915|PMID:17576681|PMID:23388215|PMID:24917665|PMID:26164367|PMID:26969752|PMID:27100291|PMID:27114410|PMID:27165696|PMID:27374306|PMID:27516456|PMID:27765793|PMID:28335032|PMID:28492532|PMID:30354306|PMID:31283864|PMID:9536098 11765820 CALM2 calmodulin 2 gene DOID:3883 Lynch syndrome ISO RGD:736342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11765820 CALM2 calmodulin 2 gene DOID:5062 phencyclidine abuse ISO RGD:736342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 11765820 CALM2 calmodulin 2 gene DOID:630 genetic disease ISO RGD:736342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11765820 CALM2 calmodulin 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:736342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 11765820 CALM2 calmodulin 2 gene DOID:9007 sudden infant death syndrome ISO RGD:736342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME 11765820 CALM2 calmodulin 2 gene DOID:9505 cannabis abuse ISO RGD:736342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 11765835 CAPN13 calpain 13 gene DOID:630 genetic disease ISO RGD:1349624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765866 RNF144A ring finger protein 144A gene DOID:630 genetic disease ISO RGD:1343789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765882 LOC100985450 putative histone H2B type 2-D gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1346575 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11765882 LOC100985450 putative histone H2B type 2-D gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346575 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 11765887 CAMP cathelicidin antimicrobial peptide gene DOID:0080600 COVID-19 ISO RGD:1343513 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11765887 CAMP cathelicidin antimicrobial peptide gene DOID:630 genetic disease ISO RGD:1343513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765887 CAMP cathelicidin antimicrobial peptide gene DOID:8881 rosacea ISO RGD:1343513 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35926563 11765887 CAMP cathelicidin antimicrobial peptide gene DOID:9000113 Pneumococcal Meningitis ISO RGD:1559878 D RGD:9068941 20200609 RGD protein:increased expression:brain, coronal section (rat) PMID:19879657|REF_RGD_ID:2316237 11765887 CAMP cathelicidin antimicrobial peptide gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1343513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11765887 CAMP cathelicidin antimicrobial peptide gene DOID:9004484 Sepsis ISO RGD:1559878 D RGD:9068941 20200609 RGD PMID:17142779|REF_RGD_ID:2316243 11765887 CAMP cathelicidin antimicrobial peptide gene DOID:9006976 Erythema ISO RGD:1343513 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35926563 11765895 ZFYVE27 zinc finger FYVE-type containing 27 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1352080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant 11765895 ZFYVE27 zinc finger FYVE-type containing 27 gene DOID:0110784 hereditary spastic paraplegia 33 ISO RGD:1352080 D RGD:7240710 20180130 OMIM 11765895 ZFYVE27 zinc finger FYVE-type containing 27 gene DOID:0110784 hereditary spastic paraplegia 33 ISO RGD:1352080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 33 | ClinVar Annotator: match by term: Spastic tetraparesis PMID:16826525|PMID:18606302|PMID:24668814|PMID:25741868|PMID:28492532|PMID:30564185 11765895 ZFYVE27 zinc finger FYVE-type containing 27 gene DOID:607 paraplegia ISO RGD:1352080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16826525|PMID:17576681|PMID:18606302|PMID:24668814|PMID:25741868|PMID:28166811|PMID:28492532|PMID:30564185 11765895 ZFYVE27 zinc finger FYVE-type containing 27 gene DOID:630 genetic disease ISO RGD:1352080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28166811|PMID:28492532 11765937 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:0050650 familial atrial fibrillation ISO RGD:731065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial atrial fibrillation 11765937 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:0050823 third-degree atrioventricular block ISO RGD:731065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Third degree atrioventricular block PMID:28492532 11765937 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:0050989 episodic ataxia type 1 ISO RGD:731065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:21858020|PMID:28492532 11765937 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:0060224 atrial fibrillation ISO RGD:731065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19698954 11765937 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:731065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11765937 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:0110218 Brugada syndrome 1 ISO RGD:731065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 1 PMID:15735608|PMID:16411137|PMID:21306642|PMID:23264583|PMID:23861362|PMID:24068186|PMID:28492532 11765937 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:10534 stomach cancer ISO RGD:731065 D RGD:9068941 20200609 RGD protein:increased expression:gastric mucosa (human) PMID:16258262|REF_RGD_ID:9686069 11765937 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:10763 hypertension ISO RGD:2953 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:11358947|REF_RGD_ID:1627659 11765937 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:114 heart disease ISO RGD:731065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heart disease PMID:22402074|PMID:23264583|PMID:25410959|PMID:25741868|PMID:28492532 11765937 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:630 genetic disease ISO RGD:731065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11765937 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:6432 pulmonary hypertension ISO RGD:2953 D RGD:9068941 20200609 RGD PMID:20303989|REF_RGD_ID:7242752 11765937 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:6432 pulmonary hypertension ISO RGD:731065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27522126 11765937 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:6432 pulmonary hypertension ISO RGD:731065 D RGD:9068941 20200609 RGD PMID:17596340|REF_RGD_ID:1627651 11765937 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:6432 pulmonary hypertension ISO RGD:731065 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, cds PMID:17267549|REF_RGD_ID:1627654 11765937 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868 11765937 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:9001275 Familial Atrial Fibrillation 7 ISO RGD:731065 D RGD:7240710 20180130 OMIM 11765937 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:9001275 Familial Atrial Fibrillation 7 ISO RGD:731065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 7 | ClinVar Annotator: match by term: altered potassium channel function PMID:15735608|PMID:16025157|PMID:16411137|PMID:16772329|PMID:17266934|PMID:17872968|PMID:18209767|PMID:19029374|PMID:19343045|PMID:19443837|PMID:20018952|PMID:20646426|PMID:21306642|PMID:21685056|PMID:22402074|PMID:23264583|PMID:23861362|PMID:24033266|PMID:24068186|PMID:24144883|PMID:24936649|PMID:24950668|PMID:25076992|PMID:25410959|PMID:25741868|PMID:26129877|PMID:26220970|PMID:26383259|PMID:28492532|PMID:28803858|PMID:29034891|PMID:29247119|PMID:29743074|PMID:31727138|PMID:33789662|PMID:34088380|PMID:34570182 11765937 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:731065 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:23861362|PMID:25741868|PMID:28492532 11765937 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:9002311 Experimental Autoimmune Myocarditis ISO RGD:2953 D RGD:9068941 20200609 RGD PMID:15306225|REF_RGD_ID:7242784 11765937 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:9002554 Tachycardia ISO RGD:2953 D RGD:9068941 20200609 RGD PMID:15876811|REF_RGD_ID:7242768 11765937 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2953 D RGD:9068941 20200609 RGD PMID:17982915|REF_RGD_ID:7242761 11765937 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:731065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11765937 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:731065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:20018952|PMID:21685056|PMID:23861362|PMID:24068186|PMID:25076992|PMID:28492532 11765942 SAMSN1 SAM domain, SH3 domain and nuclear localization signals 1 gene DOID:0080600 COVID-19 ISO RGD:1348552 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11765942 SAMSN1 SAM domain, SH3 domain and nuclear localization signals 1 gene DOID:10652 Alzheimer's disease ISO RGD:1348552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 11765942 SAMSN1 SAM domain, SH3 domain and nuclear localization signals 1 gene DOID:630 genetic disease ISO RGD:1348552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765942 SAMSN1 SAM domain, SH3 domain and nuclear localization signals 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11765968 GPR157 G protein-coupled receptor 157 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1322370 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11765968 GPR157 G protein-coupled receptor 157 gene DOID:630 genetic disease ISO RGD:1322370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765968 GPR157 G protein-coupled receptor 157 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11765975 GZMB granzyme B gene DOID:0060439 lysinuric protein intolerance ISO RGD:1353495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11765975 GZMB granzyme B gene DOID:0060500 drug allergy ISO RGD:1353495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19706026 11765975 GZMB granzyme B gene DOID:0080600 COVID-19 ISO RGD:1353495 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 11765975 GZMB granzyme B gene DOID:12849 autistic disorder ISO RGD:1353495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18762240 11765975 GZMB granzyme B gene DOID:2237 hepatitis ISO RGD:1353495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19706026 11765975 GZMB granzyme B gene DOID:2799 bronchiolitis obliterans ISO RGD:1353495 D RGD:9068941 20200609 RGD PMID:19737140|REF_RGD_ID:5135518 11765975 GZMB granzyme B gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1353495 D RGD:9068941 20200609 RGD PMID:20540777|REF_RGD_ID:5135516 11765975 GZMB granzyme B gene DOID:3454 brain infarction ISO RGD:620018 D RGD:9068941 20230216 RGD protein:increased expression:brain (rat) PMID:19895873|REF_RGD_ID:2325193 11765975 GZMB granzyme B gene DOID:630 genetic disease ISO RGD:1353495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765975 GZMB granzyme B gene DOID:9000265 Specific Granule Deficiency ISO RGD:1353495 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11765975 GZMB granzyme B gene DOID:9004610 Acute Lung Injury ISO RGD:733022 D RGD:9068941 20200609 RGD PMID:20018616|REF_RGD_ID:5135517 11765975 GZMB granzyme B gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1353495 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11765975 GZMB granzyme B gene DOID:9008939 Breast Neoplasms ISO RGD:1353495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19446661 11765984 GRTP1 growth hormone regulated TBC protein 1 gene DOID:2222 factor X deficiency ISO RGD:1319426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 11765984 GRTP1 growth hormone regulated TBC protein 1 gene DOID:630 genetic disease ISO RGD:1319426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765994 STAMBPL1 STAM binding protein like 1 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1603015 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:18456716|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9467011 11765994 STAMBPL1 STAM binding protein like 1 gene DOID:630 genetic disease ISO RGD:1603015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11765994 STAMBPL1 STAM binding protein like 1 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1603015 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532 11766020 RPL24 ribosomal protein L24 gene DOID:5723 optic atrophy ISO RGD:731427 D RGD:9068941 20220825 MouseDO OMIM:165300 | OMIM:165500 | OMIM:258500 | OMIM:311050 | OMIM:605293 | OMIM:610708 11766020 RPL24 ribosomal protein L24 gene DOID:630 genetic disease ISO RGD:731426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766020 RPL24 ribosomal protein L24 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11766036 SOCS2 suppressor of cytokine signaling 2 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1352815 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:12888825|REF_RGD_ID:2298909 11766036 SOCS2 suppressor of cytokine signaling 2 gene DOID:1380 endometrial cancer ISO RGD:1352815 D RGD:9068941 20200609 RGD DNA:hypermethylated PMID:15159323|REF_RGD_ID:2298926 11766036 SOCS2 suppressor of cytokine signaling 2 gene DOID:3008 invasive ductal carcinoma ISO RGD:1352815 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:12888825|REF_RGD_ID:2298909 11766036 SOCS2 suppressor of cytokine signaling 2 gene DOID:3042 allergic contact dermatitis ISO RGD:1352815 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 11766036 SOCS2 suppressor of cytokine signaling 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352815 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35305058 11766036 SOCS2 suppressor of cytokine signaling 2 gene DOID:4001 ovarian carcinoma ISO RGD:1352815 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:15361843|REF_RGD_ID:2298907 11766036 SOCS2 suppressor of cytokine signaling 2 gene DOID:630 genetic disease ISO RGD:1352815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766036 SOCS2 suppressor of cytokine signaling 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1352815 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11766036 SOCS2 suppressor of cytokine signaling 2 gene DOID:8986 narcolepsy ISO RGD:1352815 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17521418 11766036 SOCS2 suppressor of cytokine signaling 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:69273 D RGD:9068941 20200609 RGD PMID:11723173|REF_RGD_ID:2298928 11766036 SOCS2 suppressor of cytokine signaling 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1352815 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:16707422|REF_RGD_ID:2298925 11766036 SOCS2 suppressor of cytokine signaling 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352815 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11766036 SOCS2 suppressor of cytokine signaling 2 gene DOID:9004484 Sepsis ISO RGD:69273 D RGD:9068941 20200609 RGD protein:increased expression:gastrocnemius PMID:12644450|REF_RGD_ID:2298924 11766036 SOCS2 suppressor of cytokine signaling 2 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1352815 D RGD:9068941 20200609 RGD PMID:17651480|REF_RGD_ID:2298902 11766067 PRKAR2B protein kinase cAMP-dependent type II regulatory subunit beta gene DOID:2999 granulosa cell tumor ISO RGD:735310 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01) PMID:11994539|REF_RGD_ID:2289157 11766067 PRKAR2B protein kinase cAMP-dependent type II regulatory subunit beta gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11766067 PRKAR2B protein kinase cAMP-dependent type II regulatory subunit beta gene DOID:6000 congestive heart failure ISO RGD:735310 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 11766067 PRKAR2B protein kinase cAMP-dependent type II regulatory subunit beta gene DOID:630 genetic disease ISO RGD:735310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766067 PRKAR2B protein kinase cAMP-dependent type II regulatory subunit beta gene DOID:9970 obesity ISO RGD:735310 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20975297 11766085 P2RX4 purinergic receptor P2X 4 gene DOID:0080600 COVID-19 ISO RGD:732285 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11766085 P2RX4 purinergic receptor P2X 4 gene DOID:1826 epilepsy ISO RGD:732285 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12941474 11766085 P2RX4 purinergic receptor P2X 4 gene DOID:3328 temporal lobe epilepsy ISO RGD:732285 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19084381 11766085 P2RX4 purinergic receptor P2X 4 gene DOID:6000 congestive heart failure ISO RGD:62073 D RGD:9068941 20200609 RGD associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum PMID:16497176|REF_RGD_ID:1642301 11766085 P2RX4 purinergic receptor P2X 4 gene DOID:630 genetic disease ISO RGD:732285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766085 P2RX4 purinergic receptor P2X 4 gene DOID:9001240 Peripheral Nerve Injuries sexual_dimorphism ISO RGD:62073 D RGD:9068941 20210122 RGD in male rat; protein:increased expression:microglia PMID:29927790|REF_RGD_ID:40924654 11766085 P2RX4 purinergic receptor P2X 4 gene DOID:9002211 Hyperalgesia treatment ISO RGD:62073 D RGD:9068941 20210122 RGD associated with Peripheral Nerve Injuries; PMID:29927790|REF_RGD_ID:40924654 11766123 DNAJC5G DnaJ heat shock protein family (Hsp40) member C5 gamma gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1316617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11766123 DNAJC5G DnaJ heat shock protein family (Hsp40) member C5 gamma gene DOID:630 genetic disease ISO RGD:1316617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766136 TDP1 tyrosyl-DNA phosphodiesterase 1 gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:1320052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia 11766136 TDP1 tyrosyl-DNA phosphodiesterase 1 gene DOID:0080054 achondrogenesis type IA ISO RGD:1320052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11766136 TDP1 tyrosyl-DNA phosphodiesterase 1 gene DOID:0090115 spinocerebellar ataxia type 1 with axonal neuropathy ISO RGD:1320052 D RGD:7240710 20180130 OMIM 11766136 TDP1 tyrosyl-DNA phosphodiesterase 1 gene DOID:0090115 spinocerebellar ataxia type 1 with axonal neuropathy ISO RGD:1320052 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 PMID:12244316|PMID:24355542|PMID:25741868|PMID:26392352|PMID:26467025|PMID:28492532|PMID:29641532|PMID:31130284|PMID:32371905 11766136 TDP1 tyrosyl-DNA phosphodiesterase 1 gene DOID:2661 myoepithelioma ISO RGD:1320052 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11766136 TDP1 tyrosyl-DNA phosphodiesterase 1 gene DOID:630 genetic disease ISO RGD:1320052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025 11766170 PRR7 proline rich 7, synaptic gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1345236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11766170 PRR7 proline rich 7, synaptic gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1345236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11766170 PRR7 proline rich 7, synaptic gene DOID:0112103 Sotos syndrome 1 ISO RGD:1345236 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 11766170 PRR7 proline rich 7, synaptic gene DOID:630 genetic disease ISO RGD:1345236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766170 PRR7 proline rich 7, synaptic gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1345236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11766185 ZNF766 zinc finger protein 766 gene DOID:630 genetic disease ISO RGD:1605317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766220 ANKUB1 ankyrin repeat and ubiquitin domain containing 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:1348688 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 11766220 ANKUB1 ankyrin repeat and ubiquitin domain containing 1 gene DOID:630 genetic disease ISO RGD:1348688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766230 VAPA VAMP associated protein A gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:737415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11766230 VAPA VAMP associated protein A gene DOID:1059 intellectual disability ISO RGD:737415 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11766230 VAPA VAMP associated protein A gene DOID:543 dystonia ISO RGD:737415 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 11766230 VAPA VAMP associated protein A gene DOID:630 genetic disease ISO RGD:737415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766250 DPEP1 dipeptidase 1 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1350537 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 11766250 DPEP1 dipeptidase 1 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1350537 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11766250 DPEP1 dipeptidase 1 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1350537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:23613520 11766250 DPEP1 dipeptidase 1 gene DOID:13636 Fanconi anemia ISO RGD:1350537 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 11766250 DPEP1 dipeptidase 1 gene DOID:14780 KBG syndrome ISO RGD:1350537 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 11766250 DPEP1 dipeptidase 1 gene DOID:630 genetic disease ISO RGD:1350537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766250 DPEP1 dipeptidase 1 gene DOID:687 hepatoblastoma ameliorates ISO RGD:1350537 D RGD:9068941 20220825 RGD human cells in mouse model PMID:31541079|REF_RGD_ID:153344539 11766250 DPEP1 dipeptidase 1 gene DOID:8398 osteoarthritis ISO RGD:1350537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30664745 11766250 DPEP1 dipeptidase 1 gene DOID:8577 ulcerative colitis ISO RGD:1350537 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 11766250 DPEP1 dipeptidase 1 gene DOID:9008261 Chemically-Induced Disorders ISO RGD:1350537 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 11766280 IRAK4 interleukin 1 receptor associated kinase 4 gene DOID:2316 brain ischemia ISO RGD:1305303 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex PMID:21925238|REF_RGD_ID:7495802 11766280 IRAK4 interleukin 1 receptor associated kinase 4 gene DOID:630 genetic disease ISO RGD:1313252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11766280 IRAK4 interleukin 1 receptor associated kinase 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16537705 11766280 IRAK4 interleukin 1 receptor associated kinase 4 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1313252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21925238 11766280 IRAK4 interleukin 1 receptor associated kinase 4 gene DOID:9003909 Immunodeficiency 67 ISO RGD:1313252 D RGD:7240710 20180130 OMIM 11766280 IRAK4 interleukin 1 receptor associated kinase 4 gene DOID:9003909 Immunodeficiency 67 ISO RGD:1313252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 67 | ClinVar Annotator: match by term: Invasive pneumococcal disease, recurrent isolated PMID:12637671|PMID:12925671|PMID:15520784|PMID:16199547|PMID:16647421|PMID:16950813|PMID:17114497|PMID:17312103|PMID:17544092|PMID:17576681|PMID:17878374|PMID:17893200|PMID:19663824|PMID:19814626|PMID:20621347|PMID:21057262|PMID:23538514|PMID:24033266|PMID:24316379|PMID:25344726|PMID:25741868|PMID:26472314|PMID:26698383|PMID:26825884|PMID:28492532|PMID:30073964|PMID:33083971|PMID:9536098|PMID:9789052 11766280 IRAK4 interleukin 1 receptor associated kinase 4 gene DOID:9004384 Bacterial Infections and Mycoses susceptibility ISO RGD:1313252 D RGD:9068941 20200609 RGD deficiency of IRAK4/extracellular pyogenic bacterial and fungal infections, OMIM:607676 DNA:deletion:CDS:821delT PMID:12637671|REF_RGD_ID:1600199 11766280 IRAK4 interleukin 1 receptor associated kinase 4 gene DOID:9004484 Sepsis ISO RGD:1305303 D RGD:9068941 20200609 RGD PMID:23073793|REF_RGD_ID:7495805 11766280 IRAK4 interleukin 1 receptor associated kinase 4 gene DOID:9006205 Animal Disease Models ISO RGD:1313252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28003376 11766280 IRAK4 interleukin 1 receptor associated kinase 4 gene DOID:9007480 Hyperoxia ISO RGD:1313253 D RGD:9068941 20200609 RGD PMID:15622543|REF_RGD_ID:7495804 11766280 IRAK4 interleukin 1 receptor associated kinase 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:1313252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28003376 11766307 BTG1 BTG anti-proliferation factor 1 gene DOID:11801 protein-energy malnutrition ISO RGD:2224 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11952159|REF_RGD_ID:631316 11766307 BTG1 BTG anti-proliferation factor 1 gene DOID:5419 schizophrenia ISO RGD:736072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16223876 11766307 BTG1 BTG anti-proliferation factor 1 gene DOID:630 genetic disease ISO RGD:736072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766307 BTG1 BTG anti-proliferation factor 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:736072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11766307 BTG1 BTG anti-proliferation factor 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:736072 D RGD:9068941 20200609 RGD PMID:15449376|REF_RGD_ID:1549463 11766307 BTG1 BTG anti-proliferation factor 1 gene DOID:9538 multiple myeloma ISO RGD:736072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16918137 11766313 PLSCR4 phospholipid scramblase 4 gene DOID:10003 sensorineural hearing loss ISO RGD:1323284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 11766313 PLSCR4 phospholipid scramblase 4 gene DOID:5409 lung small cell carcinoma ISO RGD:1323284 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 11766313 PLSCR4 phospholipid scramblase 4 gene DOID:630 genetic disease ISO RGD:1323284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766341 FOXC2 forkhead box C2 gene DOID:0060260 ptosis ISO RGD:1347315 D RGD:9068941 20200609 RGD lymphedema and ptosis,OMIM:153000;DNA:deletion:505delA PMID:11371511|REF_RGD_ID:1601216 11766341 FOXC2 forkhead box C2 gene DOID:0111509 lymphedema-distichiasis syndrome ISO RGD:1347315 D RGD:7240710 20180130 OMIM 11766341 FOXC2 forkhead box C2 gene DOID:0111509 lymphedema-distichiasis syndrome ISO RGD:1347315 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distichiasis-lymphedema syndrome PMID:10417285|PMID:11078474|PMID:11371511|PMID:11499682|PMID:12114478|PMID:12485195|PMID:16081467|PMID:18197197|PMID:19760751|PMID:20301630|PMID:22768468|PMID:24278289|PMID:25252123|PMID:25741868|PMID:27276711|PMID:28492532 11766341 FOXC2 forkhead box C2 gene DOID:0111985 immunodeficiency 32B ISO RGD:1347315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 32B PMID:28492532 11766341 FOXC2 forkhead box C2 gene DOID:10952 nephritis ISO RGD:1347315 D RGD:9068941 20200609 RGD DNA:insertion:1006insA PMID:15523639|REF_RGD_ID:1601217 11766341 FOXC2 forkhead box C2 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1347315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 11766341 FOXC2 forkhead box C2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1347315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27663689 11766341 FOXC2 forkhead box C2 gene DOID:4977 lymphedema ISO RGD:1347315 D RGD:9068941 20200609 RGD lymphedema and ptosis,OMIM:153000;DNA:deletion:505delA PMID:11371511|REF_RGD_ID:1601216 11766341 FOXC2 forkhead box C2 gene DOID:4977 lymphedema ISO RGD:1347315 D RGD:9068941 20200609 RGD lymphedema-distichiasis syndrome,OMIM:153400;DNA:insertion:1006insA PMID:15523639|REF_RGD_ID:1601217 11766341 FOXC2 forkhead box C2 gene DOID:530 eyelid disease ISO RGD:1347315 D RGD:9068941 20200609 RGD lymphedema-distichiasis syndrome,OMIM:153400;DNA:insertion:1006insA PMID:15523639|REF_RGD_ID:1601217 11766341 FOXC2 forkhead box C2 gene DOID:6000 congestive heart failure ISO RGD:1347315 D RGD:9068941 20200609 RGD PMID:16952980|REF_RGD_ID:1582564 11766341 FOXC2 forkhead box C2 gene DOID:630 genetic disease ISO RGD:1347315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11766341 FOXC2 forkhead box C2 gene DOID:6419 tetralogy of Fallot ISO RGD:1347315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25093829 11766341 FOXC2 forkhead box C2 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1347315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9409679 11766341 FOXC2 forkhead box C2 gene DOID:9005004 Musculoskeletal Abnormalities ISO RGD:1347315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9106663 11766341 FOXC2 forkhead box C2 gene DOID:9007294 Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus ISO RGD:1347315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus PMID:15523639 11766341 FOXC2 forkhead box C2 gene DOID:9007692 Insulin Resistance ISO RGD:1347315 D RGD:9068941 20200609 RGD DNA:polymorphism:5'ut:-512C>T PMID:12453913|REF_RGD_ID:1601219 11766341 FOXC2 forkhead box C2 gene DOID:9008386 Hydrops Fetalis ISO RGD:1347315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868 11766341 FOXC2 forkhead box C2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1347315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9106663|PMID:9409679 11766341 FOXC2 forkhead box C2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347315 D RGD:9068941 20200609 RGD DNA:insertion:1006insA PMID:15523639|REF_RGD_ID:1601217 11766341 FOXC2 forkhead box C2 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1347315 D RGD:9068941 20200609 RGD DNA:polymorphism:5'ut:-512C>T,-350G>T, 3'ut:1548C>T PMID:12540636|REF_RGD_ID:1601220 11766341 FOXC2 forkhead box C2 gene DOID:9970 obesity ISO RGD:1347315 D RGD:9068941 20200609 RGD DNA:polymorphism:5'ut:-512C>T(human) PMID:15601967|REF_RGD_ID:1601218 11766347 BSPH1 binder of sperm protein homolog 1 gene DOID:630 genetic disease ISO RGD:2306586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766357 PPP6R2 protein phosphatase 6 regulatory subunit 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1347490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 11766357 PPP6R2 protein phosphatase 6 regulatory subunit 2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1347490 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 11766357 PPP6R2 protein phosphatase 6 regulatory subunit 2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1347490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11766357 PPP6R2 protein phosphatase 6 regulatory subunit 2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1347490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 11766357 PPP6R2 protein phosphatase 6 regulatory subunit 2 gene DOID:0110194 Charcot-Marie-Tooth disease type 4B3 ISO RGD:1347490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3 PMID:23749797|PMID:33987933 11766357 PPP6R2 protein phosphatase 6 regulatory subunit 2 gene DOID:10283 prostate cancer ISO RGD:1347490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11766357 PPP6R2 protein phosphatase 6 regulatory subunit 2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1347490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 11766357 PPP6R2 protein phosphatase 6 regulatory subunit 2 gene DOID:1059 intellectual disability ISO RGD:1347490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11766357 PPP6R2 protein phosphatase 6 regulatory subunit 2 gene DOID:630 genetic disease ISO RGD:1347490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766407 PPTC7 protein phosphatase targeting COQ7 gene DOID:630 genetic disease ISO RGD:1604734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766407 PPTC7 protein phosphatase targeting COQ7 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1604734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11766417 NFATC1 nuclear factor of activated T cells 1 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1346235 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11766417 NFATC1 nuclear factor of activated T cells 1 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1346235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 11766417 NFATC1 nuclear factor of activated T cells 1 gene DOID:1059 intellectual disability ISO RGD:1346235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 11766417 NFATC1 nuclear factor of activated T cells 1 gene DOID:1657 ventricular septal defect susceptibility ISO RGD:1346235 D RGD:9068941 20230413 RGD DNA:SNPs,haplotype: :rs7240256,rs11665469,rs754505 (human) PMID:23286482|REF_RGD_ID:243065234 11766417 NFATC1 nuclear factor of activated T cells 1 gene DOID:1657 ventricular septal defect susceptibility ISO RGD:1346235 D RGD:9068941 20230420 RGD DNA:repeats: : PMID:21499900|REF_RGD_ID:268530901 11766417 NFATC1 nuclear factor of activated T cells 1 gene DOID:1682 congenital heart disease ISO RGD:1346235 D RGD:9068941 20230420 RGD DNA:polymorphism: : PMID:28829497|REF_RGD_ID:266231212 11766417 NFATC1 nuclear factor of activated T cells 1 gene DOID:1712 aortic valve stenosis severity ISO RGD:1346235 D RGD:9068941 20230420 RGD PMID:23578508|REF_RGD_ID:267010069 11766417 NFATC1 nuclear factor of activated T cells 1 gene DOID:557 kidney disease treatment ISO RGD:2319357 D RGD:9068941 20230427 RGD associated with Postoperative Complications PMID:23535151|REF_RGD_ID:7247439 11766417 NFATC1 nuclear factor of activated T cells 1 gene DOID:630 genetic disease ISO RGD:1346235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11766417 NFATC1 nuclear factor of activated T cells 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:1346235 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 11766417 NFATC1 nuclear factor of activated T cells 1 gene DOID:8398 osteoarthritis treatment ISO RGD:2319357 D RGD:9068941 20230427 RGD PMID:34738623|REF_RGD_ID:329328930 11766417 NFATC1 nuclear factor of activated T cells 1 gene DOID:8445 intestinal volvulus ISO RGD:1346235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11766417 NFATC1 nuclear factor of activated T cells 1 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1346235 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 11766417 NFATC1 nuclear factor of activated T cells 1 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:1557692 D RGD:9068941 20230420 RGD mRNA,protein:increased expression:liver: PMID:36092961|REF_RGD_ID:268357360 11766417 NFATC1 nuclear factor of activated T cells 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2319357 D RGD:9068941 20230427 RGD protein:increased expression:nucleus PMID:26481166|REF_RGD_ID:329337345 11766417 NFATC1 nuclear factor of activated T cells 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11766417 NFATC1 nuclear factor of activated T cells 1 gene DOID:9004914 Postmenopausal Osteoporosis treatment ISO RGD:2319357 D RGD:9068941 20230427 RGD PMID:31399090|REF_RGD_ID:329328926 11766417 NFATC1 nuclear factor of activated T cells 1 gene DOID:9005968 Neuralgia ISO RGD:2319357 D RGD:9068941 20230427 RGD PMID:23386250|REF_RGD_ID:329337338 11766417 NFATC1 nuclear factor of activated T cells 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1346235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11766417 NFATC1 nuclear factor of activated T cells 1 gene DOID:9650 pathologic nystagmus ISO RGD:1346235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:25741868 11766440 SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:0050572 cone-rod dystrophy ISO RGD:1351534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:23847139|PMID:25741868|PMID:27735924|PMID:28492532|PMID:28559085 11766440 SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:0050817 Stargardt disease ISO RGD:1351534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:30718709 11766440 SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:0110366 retinitis pigmentosa 33 ISO RGD:1351534 D RGD:7240710 20180130 OMIM 11766440 SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:0110366 retinitis pigmentosa 33 ISO RGD:1351534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 33 PMID:16612614|PMID:19710410|PMID:19878916|PMID:21618346|PMID:23029027|PMID:24302620|PMID:24319334|PMID:24499697|PMID:24516651|PMID:24938718|PMID:24940031|PMID:25097241|PMID:25741868|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28559085|PMID:30360737|PMID:30718709|PMID:31260034|PMID:31486839|PMID:33546218 11766440 SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:10584 retinitis pigmentosa ISO RGD:1351534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16612614|PMID:17576681|PMID:19878916|PMID:21618346|PMID:23887765|PMID:24302620|PMID:24319334|PMID:24499697|PMID:24516651|PMID:24940031|PMID:25741868|PMID:26355662|PMID:26720483|PMID:28041643|PMID:28076437|PMID:28166811|PMID:28492532|PMID:28559085|PMID:30360737|PMID:30718709|PMID:9536098 11766440 SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:10584 retinitis pigmentosa ISO RGD:1351534 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16612614|PMID:17576681|PMID:19878916|PMID:21618346|PMID:23887765|PMID:24302620|PMID:24319334|PMID:24499697|PMID:24940031|PMID:25741868|PMID:26355662|PMID:26720483|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28559085|PMID:30360737|PMID:30718709|PMID:9536098 11766440 SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:10584 retinitis pigmentosa ISO RGD:1351534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:16612614|PMID:17576681|PMID:19878916|PMID:21618346|PMID:23887765|PMID:24302620|PMID:24319334|PMID:24499697|PMID:24516651|PMID:24940031|PMID:25741868|PMID:26355662|PMID:26720483|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28559085|PMID:30360737|PMID:30718709|PMID:31054281|PMID:9536098 11766440 SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:1059 intellectual disability ISO RGD:1351534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11766440 SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:5419 schizophrenia ISO RGD:1351534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11766440 SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:630 genetic disease ISO RGD:1351534 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11766440 SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:8501 fundus dystrophy ISO RGD:1351534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16612614|PMID:19878916|PMID:21618346|PMID:24302620|PMID:24319334|PMID:24499697|PMID:24516651|PMID:24940031|PMID:25741868|PMID:27208204|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28559085|PMID:30360737|PMID:32037395|PMID:33429167|PMID:33576794 11766489 HYAL1 hyaluronidase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1352194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 11766489 HYAL1 hyaluronidase 1 gene DOID:0050809 mucopolysaccharidosis IX ISO RGD:1352194 D RGD:7240710 20180130 OMIM 11766489 HYAL1 hyaluronidase 1 gene DOID:0050809 mucopolysaccharidosis IX ISO RGD:1352194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deficiency of hyaluronoglucosaminidase PMID:10339581|PMID:16199547|PMID:17576681|PMID:21559944|PMID:25741868|PMID:27424109|PMID:28492532|PMID:33942374|PMID:8793927|PMID:9536098 11766489 HYAL1 hyaluronidase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1352194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 11766489 HYAL1 hyaluronidase 1 gene DOID:12798 mucopolysaccharidosis ISO RGD:1352194 D RGD:9068941 20200609 RGD mucopolysaccharidosis IX, OMIM:601492 DNA:point_mutation,rearrangement:CDS:compound heterozygote G1412A -> amino acid E268K, 1361del37ins14 PMID:10339581|REF_RGD_ID:1599811 11766489 HYAL1 hyaluronidase 1 gene DOID:630 genetic disease ISO RGD:1352194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11766489 HYAL1 hyaluronidase 1 gene DOID:6432 pulmonary hypertension ISO RGD:1303060 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:19915162|REF_RGD_ID:9588633 11766489 HYAL1 hyaluronidase 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1352194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11766489 HYAL1 hyaluronidase 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1303060 D RGD:9068941 20200609 RGD PMID:22529164|REF_RGD_ID:9588636 11766489 HYAL1 hyaluronidase 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11766505 IFIT5 interferon induced protein with tetratricopeptide repeats 5 gene DOID:14497 Wolman disease ISO RGD:1348146 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wolman disease PMID:28492532 11766505 IFIT5 interferon induced protein with tetratricopeptide repeats 5 gene DOID:630 genetic disease ISO RGD:1348146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766505 IFIT5 interferon induced protein with tetratricopeptide repeats 5 gene DOID:9001488 Human Influenza ISO RGD:1348146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11766511 SEL1L SEL1L adaptor subunit of ERAD E3 ubiquitin ligase gene DOID:0050753 cerebellar ataxia ISO RGD:12228548 D RGD:9068941 20210604 OMIA Ataxia, cerebellar, progressive early-onset, SEL1L-related PMID:22719266 11766511 SEL1L SEL1L adaptor subunit of ERAD E3 ubiquitin ligase gene DOID:1793 pancreatic cancer ISO RGD:1351070 D RGD:9068941 20200609 RGD PMID:14508516|REF_RGD_ID:2317190 11766511 SEL1L SEL1L adaptor subunit of ERAD E3 ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1351070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766540 ZSCAN22 zinc finger and SCAN domain containing 22 gene DOID:630 genetic disease ISO RGD:1315325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766540 ZSCAN22 zinc finger and SCAN domain containing 22 gene DOID:9007188 Liver Neoplasms ISO RGD:1315325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11766547 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1604612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:20818383|PMID:20858599|PMID:22200994|PMID:23757202|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28654958|PMID:29142257|PMID:30723688|PMID:30956948|PMID:31065540|PMID:31589614|PMID:33613441 11766547 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1604612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11766547 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1604612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11766547 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1604612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:20818383|PMID:20858599|PMID:22200994|PMID:23757202|PMID:24033266|PMID:25741868|PMID:25803036|PMID:28492532|PMID:28654958|PMID:29142257|PMID:30723688|PMID:30956948|PMID:31065540|PMID:31589614|PMID:33613441 11766547 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:0112085 nuclear type mitochondrial complex I deficiency 19 ISO RGD:1604612 D RGD:7240710 20190315 OMIM 11766547 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:0112085 nuclear type mitochondrial complex I deficiency 19 ISO RGD:1604612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 PMID:20818383|PMID:20858599|PMID:22200994|PMID:23757202|PMID:24033266|PMID:25678554|PMID:25741868|PMID:28097321|PMID:28492532|PMID:28654958|PMID:29142257|PMID:30723688|PMID:30956948|PMID:31065540|PMID:31434271|PMID:31589614|PMID:32964447|PMID:33613441|PMID:35628876 11766547 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:1826 epilepsy ISO RGD:1604612 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11766547 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:3652 Leigh disease ISO RGD:1604612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:20818383|PMID:20858599|PMID:22200994|PMID:23757202|PMID:24033266|PMID:25678554|PMID:25741868|PMID:25803036|PMID:28492532|PMID:28654958|PMID:29142257|PMID:30723688|PMID:30956948|PMID:31065540|PMID:31589614|PMID:33613441 11766547 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1604612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11766547 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:630 genetic disease ISO RGD:1604612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20818383|PMID:20858599|PMID:22200994|PMID:23757202|PMID:24033266|PMID:25678554|PMID:25741868|PMID:28097321|PMID:28492532|PMID:28654958|PMID:29142257|PMID:30723688|PMID:30956948|PMID:31065540|PMID:31589614|PMID:32964447|PMID:33613441 11766547 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:700 mitochondrial metabolism disease ISO RGD:1604612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20818383 11766547 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1604612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20858599 11766547 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1604612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:20818383|PMID:20858599|PMID:22200994|PMID:23757202|PMID:24033266|PMID:25678554|PMID:25741868|PMID:28492532|PMID:28654958|PMID:29142257|PMID:30723688|PMID:30956948|PMID:31065540|PMID:31589614|PMID:33613441 11766547 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11766547 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:9007385 Mitochondrial Encephalopathy ISO RGD:1604612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial encephalopathy PMID:25741868 11766547 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:9007661 Dwarfism ISO RGD:1604612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11766547 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1604612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:25741868|PMID:28492532 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0040088 autoimmune uveitis treatment ISO RGD:1345686 D RGD:9068941 20211105 RGD human recombinant protein in a rat model PMID:28011398|REF_RGD_ID:150520199 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0050012 chikungunya ISO RGD:1345686 D RGD:9068941 20210122 RGD protein:increased expression:blood serum (human) PMID:31365117|REF_RGD_ID:40925935 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0050598 extrapulmonary tuberculosis ISO RGD:1345686 D RGD:9068941 20201029 RGD protein:increased expression:serum (human) PMID:16001981|REF_RGD_ID:39939055 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1345686 D RGD:9068941 20211022 RGD mRNA:increased expression:head, neck (human) PMID:31452775|REF_RGD_ID:150520018 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0060180 colitis ISO RGD:1617608 D RGD:9068941 20200827 RGD associated with Helicobacter Infections;mRNA:decreased expression:colon (mouse, Helicobacter hepaticus) PMID:17242461|REF_RGD_ID:38549339 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 ISO RGD:1345686 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 ISO RGD:1345686 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 ISO RGD:1345686 D RGD:9068941 20200618 RGD protein:increased expression:serum: PMID:32416070|REF_RGD_ID:30296676 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 ISO RGD:1345686 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 ISO RGD:1345686 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 ISO RGD:1345686 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:32161940 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 disease_progression ISO RGD:1345686 D RGD:9068941 20200618 RGD associated with diabetes mellitus PMID:32345579|REF_RGD_ID:30296681 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 exacerbates ISO RGD:1345686 D RGD:9068941 20211126 RGD protein:increased expression:blood plasma (human) PMID:33197260|REF_RGD_ID:150523790 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 severity ISO RGD:1345686 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 severity ISO RGD:1345686 D RGD:9068941 20200625 RGD protein:increased expression:serum (human) PMID:32297828|PMID:32365221|PMID:32427582|PMID:32434211|REF_RGD_ID:30309200|REF_RGD_ID:30310229|REF_RGD_ID:30310238|REF_RGD_ID:32716368 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0080784 urinary tract infection treatment ISO RGD:1345686 D RGD:9068941 20211105 RGD human recombinant protein in a mouse model PMID:28011398|REF_RGD_ID:150520199 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0080810 acute asthma treatment ISO RGD:1345686 D RGD:9068941 20210122 RGD PMID:30059697|REF_RGD_ID:39939057 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:10113 trypanosomiasis disease_progression ISO RGD:1345686 D RGD:9068941 20211112 RGD protein:increased expression:cerebrospinal fluid (human) PMID:25375156|REF_RGD_ID:150521552 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:1024 leprosy severity ISO RGD:1345686 D RGD:9068941 20211112 RGD DNA:SNP:promoter:g.-353T>A (rs4073) (human) PMID:30303246|REF_RGD_ID:40400755 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:10459 common cold treatment ISO RGD:1345686 D RGD:9068941 20211112 RGD PMID:28343401|REF_RGD_ID:150521550 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:10533 viral pneumonia ISO RGD:1345686 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:10754 otitis media ISO RGD:8772136 D RGD:9068941 20200609 RGD PMID:10085040|REF_RGD_ID:11553900 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:11054 urinary bladder cancer ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22015448 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:11077 brucellosis susceptibility ISO RGD:1345686 D RGD:9068941 20211126 RGD DNA:SNP:promoter:g.-251A>T (human) PMID:24076593|REF_RGD_ID:150523788 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:11265 trachoma susceptibility ISO RGD:1345686 D RGD:9068941 20211105 RGD DNA:SNP:promoter:g.-251A>T (rs4073) (human) PMID:20015396|REF_RGD_ID:150520200 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:11394 adult respiratory distress syndrome severity ISO RGD:1345686 D RGD:9068941 20211126 RGD associated with toxic shock syndrome;DNA:SNP:promoter:g.-251A>T (human) PMID:22897124|REF_RGD_ID:150523785 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:11934 head and neck cancer exacerbates ISO RGD:1345686 D RGD:9068941 20211022 RGD mRNA:increased expression:head, neck (human) PMID:31452775|REF_RGD_ID:150520018 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:1205 allergic disease ISO RGD:1617608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:12053 cryptococcosis ISO RGD:1617608 D RGD:9068941 20200827 RGD mRNA:increased expression:lung (mouse) PMID:27596810|REF_RGD_ID:38549345 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:12236 primary biliary cholangitis ISO RGD:1345686 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:21731723|REF_RGD_ID:26884357 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:12351 alcoholic hepatitis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26220752 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1345686 D RGD:9068941 20211112 RGD protein:increased expression:nasopharynx(human) PMID:29325581|REF_RGD_ID:150521551 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:13078 eumycotic mycetoma ISO RGD:1345686 D RGD:9068941 20211126 RGD DNA:SNP:promoter:g.-251T>A (human) PMID:17709521|REF_RGD_ID:150523787 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:13241 Behcet's disease ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8712863 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:13272 Klebsiella pneumonia ISO RGD:1617608 D RGD:9068941 20200827 RGD PMID:11207292|REF_RGD_ID:38549344 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:13580 cholestasis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224055 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:13608 biliary atresia ISO RGD:1345686 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:24493287|REF_RGD_ID:26884361 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:13976 peptic esophagitis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18193101 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:14250 Down syndrome ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16289943 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:1485 cystic fibrosis ISO RGD:1345686 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:20818377|REF_RGD_ID:5135034 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:1749 squamous cell carcinoma ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15956251 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:1790 malignant mesothelioma ISO RGD:1345686 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674|PMID:28377727 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:1793 pancreatic cancer ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18307536 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:1852 intrahepatic cholestasis ISO RGD:1345686 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:24493287|REF_RGD_ID:26884361 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:1883 hepatitis C ISO RGD:1345686 D RGD:9068941 20211112 RGD protein:increased expression:blood serum (human) PMID:28163109|REF_RGD_ID:150521548 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:2272 vulvovaginal candidiasis ISO RGD:1345686 D RGD:9068941 20211126 RGD associated with human immunodeficiency virus infectious disease;protein:increased expression:vaginal fluid (human) PMID:18243333|REF_RGD_ID:150523783 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:2377 multiple sclerosis ISO RGD:1345686 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20138139|REF_RGD_ID:5134999 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:2755 Mycobacterium avium complex disease ISO RGD:1345686 D RGD:9068941 20211126 RGD protein:increased expression:blood plasma, erythrocyte (human) PMID:26300588|REF_RGD_ID:11250849 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:289 endometriosis ISO RGD:1345686 D RGD:9068941 20211112 RGD protein:increased expression:peritoneal fluid (human) PMID:25704572|PMID:29962266|REF_RGD_ID:150520017|REF_RGD_ID:150521547 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:2921 glomerulonephritis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10910440|PMID:9403216 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1345686 D RGD:9068941 20200625 RGD protein:increased expression:plasma (human) PMID:14514395|REF_RGD_ID:30309961 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1345686 D RGD:9068941 20200702 RGD protein:increased expression:bronchoalveolar lavage (human) PMID:15888207|REF_RGD_ID:34201108 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1345686 D RGD:9068941 20200709 RGD protein:increased expression:serum (human) PMID:15271897|REF_RGD_ID:32716401 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1345686 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1345686 D RGD:9068941 20200702 RGD protein:increased expression:blood (human) PMID:15472864|REF_RGD_ID:34888224 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1345686 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:16195357|REF_RGD_ID:30309218 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1345686 D RGD:9068941 20200619 RGD protein:increased expression:serum (human) PMID:15657466|REF_RGD_ID:30309219 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1345686 D RGD:9068941 20200702 RGD PMID:15865221|REF_RGD_ID:33769580 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:2957 pulmonary tuberculosis ISO RGD:1345686 D RGD:9068941 20201029 RGD protein:increased expression:serum (human) PMID:16001981|REF_RGD_ID:39939055 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:2957 pulmonary tuberculosis exacerbates ISO RGD:1345686 D RGD:9068941 20211126 RGD RNA:increased expression:blood plasma (human) PMID:27434276|REF_RGD_ID:150523784 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:299 adenocarcinoma ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18307536 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:3068 glioblastoma ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16356833 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15337792|PMID:23099361|PMID:28864214 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:321 tropical spastic paraparesis severity ISO RGD:1345686 D RGD:9068941 20201022 RGD protein:increased expression:plasma (human) PMID:26800845|REF_RGD_ID:39939014 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1345686 D RGD:9068941 20211022 RGD mRNA:increased expression:esophagus (human) PMID:31423201|REF_RGD_ID:150520019 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:3770 pulmonary fibrosis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17266442|PMID:17894541 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:1345686 D RGD:9068941 20211105 RGD human recombinant protein in a mouse model PMID:28011398|REF_RGD_ID:150520199 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15956251 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:399 tuberculosis ISO RGD:1345686 D RGD:9068941 20211126 RGD protein:increased expression:blood plasma, erythrocyte (human) PMID:26300588|REF_RGD_ID:11250849 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:399 tuberculosis susceptibility ISO RGD:1345686 D RGD:9068941 20211105 RGD DNA:SNP:promoter:-251A>T (human) PMID:32393145|REF_RGD_ID:150520198 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:4029 gastritis disease_progression ISO RGD:1345686 D RGD:9068941 20211126 RGD associated with Helicobacter Infections;DNA:SNP:promoter:g.-251T>A (human) PMID:20380014|REF_RGD_ID:150523786 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:4033 bacterial gastritis susceptibility ISO RGD:1345686 D RGD:9068941 20210129 RGD associated with Helicobacter Infections;DNA:SNP:promoter: -251T>A (rs4073) (human) PMID:31522447|REF_RGD_ID:40925938 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:4677 keratitis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23661603 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:5082 liver cirrhosis ISO RGD:1617608 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15763341 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1345686 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, serum (human) PMID:21731723|REF_RGD_ID:26884357 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1345686 D RGD:9068941 20200806 RGD associated with pleural tuberculosis; PMID:21303360|REF_RGD_ID:36947878 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1345686 D RGD:9068941 20211112 RGD protein:increased expression:cerebrospinal fluid (human) PMID:31217522|REF_RGD_ID:150521549 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:5517 stomach carcinoma susceptibility ISO RGD:1345686 D RGD:9068941 20210129 RGD associated with Helicobacter Infections;DNA:SNP:promoter: -251T>A (rs4073) (human) PMID:31522447|REF_RGD_ID:40925938 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:552 pneumonia ISO RGD:1345686 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:552 pneumonia ISO RGD:1617608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:559 acute pyelonephritis susceptibility ISO RGD:1345686 D RGD:9068941 20211112 RGD DNA:SNP:promoter:g.-251T>A (rs4073) (human) PMID:22325052|REF_RGD_ID:7207860 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:5773 oral submucous fibrosis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28984080 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:6000 congestive heart failure ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29959987 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:630 genetic disease ISO RGD:1345686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:6432 pulmonary hypertension ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15302794 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:646 viral encephalitis susceptibility ISO RGD:1345686 D RGD:9068941 20201218 RGD DNA:SNP:promoter: -251A>T (human) PMID:25751776|REF_RGD_ID:39939049 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:684 hepatocellular carcinoma ISO RGD:1345686 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:30523154|REF_RGD_ID:26884364 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:684 hepatocellular carcinoma ISO RGD:1345686 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12432545|PMID:35776891 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1345686 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:26078356|REF_RGD_ID:11526468 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1345686 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:multiple PMID:24381110|REF_RGD_ID:26884366 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:7148 rheumatoid arthritis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17379860|PMID:19192274 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:8506 bullous pemphigoid ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11359455 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:8506 bullous pemphigoid ISO RGD:1617608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11359455 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:8534 gastroesophageal reflux disease ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18193101|PMID:20616304 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:8557 oropharynx cancer ISO RGD:1345686 D RGD:9068941 20211022 RGD mRNA:increased expression:head, neck (human) PMID:31452775|REF_RGD_ID:150520018 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:8574 lichen disease ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18393961 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:8577 ulcerative colitis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12133438|PMID:15955209 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:8618 oral cavity cancer ISO RGD:1345686 D RGD:9068941 20211022 RGD mRNA:increased expression:head, neck (human) PMID:31452775|REF_RGD_ID:150520018 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:8805 intermediate coronary syndrome ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10660968 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:8858 tonsil cancer ISO RGD:1345686 D RGD:9068941 20211022 RGD mRNA:increased expression:head, neck (human) PMID:31452775|REF_RGD_ID:150520018 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:893 Wilson disease ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25002079 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9000099 Experimental Colitis treatment ISO RGD:1345686 D RGD:9068941 20201029 RGD PMID:29655167|REF_RGD_ID:39939058 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9000197 Edema ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19874808 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9000217 Stomach Neoplasms ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15492468|PMID:15723263 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1345686 D RGD:9068941 20200609 RGD Chronic hepatitis B; protein:increased expression:liver, plasma (human) PMID:27974825|REF_RGD_ID:26884362 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1345686 D RGD:9068941 20200609 RGD associated with liver cirrhosis;protein:increased expression:plasma (human) PMID:29476704|REF_RGD_ID:26884367 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9000972 Fever ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11852909 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9001109 Anorexia susceptibility ISO RGD:1345686 D RGD:9068941 20211126 RGD DNA:SNP:promoter:g.-251A>T PMID:24076593|REF_RGD_ID:150523788 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1345686 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28864214 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9001414 Neurosyphilis treatment ISO RGD:1345686 D RGD:9068941 20201029 RGD PMID:27650493|REF_RGD_ID:39939071 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24894820 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9002211 Hyperalgesia ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10401557|PMID:7881729 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16606632|PMID:17606477 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9002371 Cardiotoxicity ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29959987 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9002512 Postherpetic Neuralgia ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11280320 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19401270|PMID:21742513 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9003688 Toxoplasma Chorioretinitis severity ISO RGD:1345686 D RGD:9068941 20201029 RGD protein:increased expression:serum (human) PMID:17488320|REF_RGD_ID:39939053 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9004009 Reperfusion Injury ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12865660 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1345686 D RGD:9068941 20211112 RGD PMID:21554996|REF_RGD_ID:150521553 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9004422 Chagas Cardiomyopathy disease_progression ISO RGD:1345686 D RGD:9068941 20211022 RGD DNA:SNP:promoter:g.-251A>T (rs4073) (human) PMID:22537745|REF_RGD_ID:39939013 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9004443 Intractable Pain ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11280320 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9004484 Sepsis exacerbates ISO RGD:1345686 D RGD:9068941 20211105 RGD protein:increased expression:blood plasma (human) PMID:31818332|REF_RGD_ID:40924635 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1345686 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32512068 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9004610 Acute Lung Injury disease_progression ISO RGD:1345686 D RGD:9068941 20210129 RGD associated with sepsis;protein:increased expression:blood serum (human) PMID:28506137|REF_RGD_ID:40925937 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9005099 Salmonella Infections, Animal ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29421334 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9005372 Inflammation ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20578705|PMID:24795235 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9005473 Bacterial Eye Infections ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23661603 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9005882 Spine Osteoarthritis ISO RGD:1345686 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34697729 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9006549 Enterovirus Infections severity ISO RGD:1345686 D RGD:9068941 20211105 RGD DNA:SNP:intron:g.+781C>T (human) PMID:24609754|REF_RGD_ID:150520201 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9006618 Liver Metastasis ISO RGD:1345686 D RGD:9068941 20200609 RGD associated with colorectal cancer; human colon adenocarcinoma cells in a mouse model PMID:29679563|REF_RGD_ID:26884358 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9006684 Inflammatory Breast Neoplasms ISO RGD:1345686 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32512068 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1345686 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32512068 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1345686 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9006939 Lyme Neuroborreliosis treatment ISO RGD:1345686 D RGD:9068941 20201029 RGD PMID:24239846|REF_RGD_ID:39939054 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9007346 Cachexia ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17878525 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:1617608 D RGD:9068941 20200702 RGD PMID:27175332|REF_RGD_ID:32733623 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22015448 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17380299 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9007874 Liver Failure disease_progression ISO RGD:1345686 D RGD:9068941 20200609 RGD associated with transient myeloproliferative syndrome and Down syndrome;protein:increased expression:serum (human) PMID:30314728|REF_RGD_ID:26884360 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9008 psoriatic arthritis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19732956 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9008114 Helicobacter Infections ISO RGD:1617608 D RGD:9068941 20200827 RGD associated with gastritis;mRNA:increased expression:stomach (mouse, Helicobacter felis) PMID:17242461|REF_RGD_ID:38549339 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:1617608 D RGD:9068941 20200828 RGD mRNA:altered expression:gastric antrum (mouse) PMID:29085807|REF_RGD_ID:38549349 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1345686 D RGD:9068941 20211105 RGD associated with liver disease;mRNA, protein:increased expression:liver, blood serum (human) PMID:23890815|REF_RGD_ID:150520196 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:1345686 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:serum, peripheral blood mononuclear cell (human) PMID:26265888|REF_RGD_ID:11075958 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20065508 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9008559 Bacterial Lung Diseases severity ISO RGD:1345686 D RGD:9068941 20210129 RGD protein:increased expression:nasal mucus (human) PMID:24211414|REF_RGD_ID:40925940 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9008885 Staphylococcal Infections ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23661603 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9008939 Breast Neoplasms ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037|PMID:17516992 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9111 cutaneous leishmaniasis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20102417 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9146 visceral leishmaniasis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22461696 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9146 visceral leishmaniasis susceptibility ISO RGD:1345686 D RGD:9068941 20211126 RGD DNA:SNP:promoter:g.-251A>T (human) PMID:25821028|REF_RGD_ID:150523789 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9146 visceral leishmaniasis treatment ISO RGD:1345686 D RGD:9068941 20211126 RGD PMID:32984951|REF_RGD_ID:150523791 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9206 Barrett's esophagus ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15387324 11766570 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9452 fatty liver disease ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23348005 11766579 RPS5 ribosomal protein S5 gene DOID:630 genetic disease ISO RGD:736632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766590 ERF ETS2 repressor factor gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1323738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11766590 ERF ETS2 repressor factor gene DOID:1342 congenital hypoplastic anemia ISO RGD:1323738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11766590 ERF ETS2 repressor factor gene DOID:1882 atrial heart septal defect ISO RGD:1323738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 11766590 ERF ETS2 repressor factor gene DOID:2340 craniosynostosis ISO RGD:1323738 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:23354439|PMID:25741868|PMID:26097063|PMID:28492532|PMID:28808027|PMID:30758909|PMID:31785789 11766590 ERF ETS2 repressor factor gene DOID:2340 craniosynostosis ISO RGD:1323738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:17576681|PMID:23354439|PMID:25741868|PMID:26097063|PMID:28492532|PMID:28808027|PMID:30758909|PMID:31754721|PMID:31785789|PMID:32370745|PMID:9536098 11766590 ERF ETS2 repressor factor gene DOID:5419 schizophrenia ISO RGD:1323738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11766590 ERF ETS2 repressor factor gene DOID:630 genetic disease ISO RGD:1323738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23354439|PMID:25741868|PMID:26097063|PMID:27738187|PMID:28492532|PMID:28808027|PMID:30569521|PMID:30728880|PMID:30758909|PMID:31837199|PMID:32370745|PMID:32592542|PMID:8418638 11766590 ERF ETS2 repressor factor gene DOID:9001260 CHITAYAT SYNDROME ISO RGD:1323738 D RGD:7240710 20190315 OMIM 11766590 ERF ETS2 repressor factor gene DOID:9001260 CHITAYAT SYNDROME ISO RGD:1323738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chitayat syndrome PMID:23354439|PMID:25741868|PMID:27738187|PMID:28492532|PMID:30569521|PMID:30728880|PMID:32592542|PMID:8418638 11766590 ERF ETS2 repressor factor gene DOID:9001900 Arnold-Chiari Malformation ISO RGD:1323738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23354439 11766590 ERF ETS2 repressor factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:1323738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11766590 ERF ETS2 repressor factor gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1323738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11766590 ERF ETS2 repressor factor gene DOID:9003816 Macrocephaly ISO RGD:1323738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly 11766590 ERF ETS2 repressor factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:23354439|PMID:25741868|PMID:28492532|PMID:30758909|PMID:32370745 11766590 ERF ETS2 repressor factor gene DOID:9004470 Craniosynostosis 4 ISO RGD:1323738 D RGD:7240710 20190327 OMIM 11766590 ERF ETS2 repressor factor gene DOID:9004470 Craniosynostosis 4 ISO RGD:1323738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 4 PMID:23354439|PMID:25741868|PMID:26097063|PMID:27738187|PMID:28492532|PMID:28808027|PMID:30758909|PMID:32370745 11766590 ERF ETS2 repressor factor gene DOID:9005466 Language Development Disorders ISO RGD:1323738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23354439 11766590 ERF ETS2 repressor factor gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1323738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:31837199 11766590 ERF ETS2 repressor factor gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1323738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23354439 11766590 ERF ETS2 repressor factor gene DOID:9269 maple syrup urine disease ISO RGD:1323738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11766590 ERF ETS2 repressor factor gene DOID:936 brain disease ISO RGD:1323738 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 11766590 ERF ETS2 repressor factor gene DOID:9538 multiple myeloma ISO RGD:1323738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11766604 PKLR pyruvate kinase L/R gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:737364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11766604 PKLR pyruvate kinase L/R gene DOID:0111077 pyruvate kinase deficiency of red cells ISO RGD:737364 D RGD:7240710 20180130 OMIM 11766604 PKLR pyruvate kinase L/R gene DOID:0111077 pyruvate kinase deficiency of red cells ISO RGD:737364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells PMID:10354117|PMID:10828047|PMID:11054094|PMID:11328279|PMID:11698298|PMID:11960989|PMID:12393511|PMID:14014643|PMID:14255553|PMID:1536957|PMID:15491302|PMID:15953013|PMID:15982340|PMID:16704447|PMID:1670447|PMID:17360088|PMID:17574881|PMID:17576681|PMID:18172691|PMID:18420493|PMID:18683378|PMID:18759866|PMID:1896471|PMID:19085939|PMID:1937486|PMID:19758413|PMID:2018831|PMID:21815188|PMID:21833022|PMID:23082140|PMID:24033266|PMID:25741868|PMID:26087744|PMID:26459649|PMID:26658699|PMID:26728349|PMID:26832193|PMID:27346685|PMID:27354418|PMID:27871768|PMID:28133914|PMID:28492532|PMID:29396846|PMID:29519373|PMID:30332465|PMID:32043619|PMID:32974842|PMID:34008892|PMID:7655861|PMID:7702630|PMID:7706479|PMID:7919353|PMID:7948315|PMID:8161798|PMID:8180378|PMID:8483951|PMID:9057665|PMID:9166866|PMID:9389718|PMID:9482576|PMID:9536098|PMID:9657767|PMID:9827908|PMID:9886305 11766604 PKLR pyruvate kinase L/R gene DOID:0111940 immunodeficiency 42 ISO RGD:737364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11766604 PKLR pyruvate kinase L/R gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:737364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11766604 PKLR pyruvate kinase L/R gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:737364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11766604 PKLR pyruvate kinase L/R gene DOID:12365 malaria ISO RGD:11113 D RGD:9068941 20220825 MouseDO OMIM:609148 | OMIM:611162 11766604 PKLR pyruvate kinase L/R gene DOID:12365 malaria susceptibility ISO RGD:11113 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.I90N (mouse) PMID:14595440|REF_RGD_ID:11537407 11766604 PKLR pyruvate kinase L/R gene DOID:12365 malaria susceptibility ISO RGD:737364 D RGD:9068941 20200609 RGD DNA:mutations, haplotype:multiple (human) PMID:20377593|REF_RGD_ID:11535999 11766604 PKLR pyruvate kinase L/R gene DOID:1540 parathyroid carcinoma ISO RGD:737364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11766604 PKLR pyruvate kinase L/R gene DOID:1926 Gaucher's disease ISO RGD:737364 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS11+?(ATT)5 (human) PMID:9677056|REF_RGD_ID:11535995 11766604 PKLR pyruvate kinase L/R gene DOID:2018 hyperinsulinism ISO RGD:11113 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:14766002|REF_RGD_ID:1625581 11766604 PKLR pyruvate kinase L/R gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:737364 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R479H (human) PMID:8161798|REF_RGD_ID:11535983 11766604 PKLR pyruvate kinase L/R gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:737364 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.A468V, p.I314T (human) PMID:7949104|REF_RGD_ID:11535979 11766604 PKLR pyruvate kinase L/R gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:737364 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.T384M, p.Q421K (human) PMID:1536957|REF_RGD_ID:11535981 11766604 PKLR pyruvate kinase L/R gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:737364 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-72A>G (human) PMID:11054094|REF_RGD_ID:11535987 11766604 PKLR pyruvate kinase L/R gene DOID:4195 hyperglycemia ISO RGD:3336 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;mRNA, protein:increased expression:liver PMID:8605225|REF_RGD_ID:1625587 11766604 PKLR pyruvate kinase L/R gene DOID:5812 MHC class II deficiency ISO RGD:737364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11766604 PKLR pyruvate kinase L/R gene DOID:583 hemolytic anemia ISO RGD:737364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hemolytic anemia PMID:28492532|PMID:32581362|PMID:9827908 11766604 PKLR pyruvate kinase L/R gene DOID:630 genetic disease ISO RGD:737364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11766604 PKLR pyruvate kinase L/R gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737364 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11766604 PKLR pyruvate kinase L/R gene DOID:9002812 Elevated Adenosine Triphosphate of Erythrocytes ISO RGD:737364 D RGD:7240710 20180130 OMIM 11766604 PKLR pyruvate kinase L/R gene DOID:9002812 Elevated Adenosine Triphosphate of Erythrocytes ISO RGD:737364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pyruvate kinase hyperactivity PMID:10354117|PMID:10828047|PMID:11054094|PMID:11328279|PMID:11960989|PMID:15953013|PMID:15982340|PMID:16704447|PMID:17360088|PMID:17574881|PMID:18759866|PMID:24033266|PMID:25741868|PMID:26087744|PMID:26459649|PMID:26658699|PMID:26728349|PMID:26832193|PMID:27346685|PMID:27354418|PMID:27871768|PMID:28133914|PMID:28492532|PMID:29519373|PMID:30332465|PMID:32974842|PMID:4160306|PMID:7655861|PMID:7706479|PMID:7919353|PMID:7948315|PMID:8483951|PMID:8664896|PMID:9057665|PMID:9482576|PMID:9657767|PMID:9827908 11766604 PKLR pyruvate kinase L/R gene DOID:9004009 Reperfusion Injury ISO RGD:3336 D RGD:9068941 20200609 RGD PMID:17013507|REF_RGD_ID:1625588 11766604 PKLR pyruvate kinase L/R gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3336 D RGD:9068941 20200609 RGD PMID:16900249|REF_RGD_ID:1625589 11766604 PKLR pyruvate kinase L/R gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737364 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20363216 11766604 PKLR pyruvate kinase L/R gene DOID:9007692 Insulin Resistance ISO RGD:11113 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:12958186|REF_RGD_ID:1625583 11766604 PKLR pyruvate kinase L/R gene DOID:9007730 Burns ISO RGD:3336 D RGD:9068941 20200609 RGD PMID:12417155|REF_RGD_ID:1625591 11766604 PKLR pyruvate kinase L/R gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11766604 PKLR pyruvate kinase L/R gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:737364 D RGD:9068941 20200609 RGD DNA:SNP: :rs3020781(human) PMID:19111066|REF_RGD_ID:13506802 11766604 PKLR pyruvate kinase L/R gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737364 D RGD:9068941 20200609 RGD DNA:SNPs:introns,exons: PMID:12196482|REF_RGD_ID:13506801 11766604 PKLR pyruvate kinase L/R gene DOID:9970 obesity ISO RGD:11113 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:12958186|REF_RGD_ID:1625583 11766619 ISOC2 isochorismatase domain containing 2 gene DOID:630 genetic disease ISO RGD:1350867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766619 ISOC2 isochorismatase domain containing 2 gene DOID:8398 osteoarthritis ISO RGD:1350867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11766632 RAG1 recombination activating 1 gene DOID:0060010 Omenn syndrome ISO RGD:1317876 D RGD:7240710 20180130 OMIM 11766632 RAG1 recombination activating 1 gene DOID:0060010 Omenn syndrome ISO RGD:1317876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:12200379|PMID:16276422|PMID:16960852|PMID:17075247|PMID:17572155|PMID:17890453|PMID:18822103|PMID:19011808|PMID:19178939|PMID:20109747|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:24985406|PMID:25516070|PMID:25741868|PMID:25849362|PMID:25976673|PMID:26457731|PMID:2682973|PMID:27301863|PMID:28083621|PMID:28492532|PMID:28769923|PMID:28783691|PMID:30307608|PMID:30778343|PMID:30858051|PMID:30877075|PMID:33365035|PMID:33628209|PMID:8810255|PMID:9630231 11766632 RAG1 recombination activating 1 gene DOID:0080915 histiocytic sarcoma ISO RGD:1317876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Histiocytic medullary reticulosis PMID:10606976|PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:11971977|PMID:12200379|PMID:14670978|PMID:15908971|PMID:16211094|PMID:16276422|PMID:16960852|PMID:17075247|PMID:17176792|PMID:17572155|PMID:17890453|PMID:18056378|PMID:18822103|PMID:19011808|PMID:19178939|PMID:19830075|PMID:20109747|PMID:20956421|PMID:21131235|PMID:21184155|PMID:21664875|PMID:21771083|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24033266|PMID:24122031|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:24985406|PMID:25516070|PMID:25741868|PMID:25849362|PMID:25869295|PMID:25976673|PMID:26186701|PMID:26457731|PMID:26596586|PMID:2682973|PMID:27301863|PMID:27609655|PMID:28083621|PMID:28109013|PMID:28492532|PMID:28769923|PMID:28783691|PMID:29107076|PMID:30046960|PMID:30290665|PMID:30307608|PMID:30778343|PMID:30858051|PMID:30877075|PMID:31031743|PMID:31503426|PMID:31980526|PMID:32447396|PMID:33193364|PMID:33365035|PMID:33628209|PMID:8810255|PMID:9630231 11766632 RAG1 recombination activating 1 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1317876 D RGD:7240710 20180130 OMIM 11766632 RAG1 recombination activating 1 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1317876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive PMID:10891452|PMID:11133745|PMID:11313270|PMID:11520796|PMID:16276422|PMID:16960852|PMID:17572155|PMID:18701881|PMID:19178939|PMID:19458910|PMID:19912631|PMID:20956421|PMID:21184155|PMID:21664875|PMID:21771083|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24033266|PMID:24122031|PMID:24290284|PMID:24406074|PMID:24418478|PMID:25516070|PMID:25741868|PMID:25869295|PMID:25976673|PMID:26457731|PMID:26476733|PMID:26596586|PMID:27301863|PMID:27609655|PMID:28492532|PMID:28783691|PMID:290284|PMID:29107076|PMID:30290665|PMID:31503426|PMID:32447396|PMID:8810255|PMID:9630231 11766632 RAG1 recombination activating 1 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1317876 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:16276422|PMID:16960852|PMID:17572155|PMID:17890453|PMID:18592361|PMID:18701881|PMID:19178939|PMID:19246248|PMID:19912631|PMID:20956421|PMID:21664875|PMID:21771083|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24033266|PMID:24122031|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:25516070|PMID:25741868|PMID:25849362|PMID:25869295|PMID:25976673|PMID:26457731|PMID:26476733|PMID:26596586|PMID:27301863|PMID:27609655|PMID:28083621|PMID:28492532|PMID:28769923|PMID:28783691|PMID:290284|PMID:29107076|PMID:30290665|PMID:30307608|PMID:31503426|PMID:32447396|PMID:8810255|PMID:9630231 11766632 RAG1 recombination activating 1 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1317876 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:16276422|PMID:16960852|PMID:17075247|PMID:17572155|PMID:17890453|PMID:18592361|PMID:18701881|PMID:19011808|PMID:19178939|PMID:19246248|PMID:19912631|PMID:20956421|PMID:21664875|PMID:21771083|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24033266|PMID:24122031|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:25516070|PMID:25741868|PMID:25849362|PMID:25869295|PMID:25976673|PMID:26457731|PMID:26476733|PMID:26596586|PMID:27301863|PMID:27609655|PMID:28083621|PMID:28492532|PMID:28769923|PMID:28783691|PMID:290284|PMID:29107076|PMID:30290665|PMID:30307608|PMID:30778343|PMID:30877075|PMID:31503426|PMID:32445296|PMID:32447396|PMID:33365035|PMID:33628209|PMID:8810255|PMID:9630231 11766632 RAG1 recombination activating 1 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1317876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:12200379|PMID:16211094|PMID:16276422|PMID:16960852|PMID:17075247|PMID:17572155|PMID:17890453|PMID:18592361|PMID:18701881|PMID:18822103|PMID:19011808|PMID:19178939|PMID:19246248|PMID:19458910|PMID:19912631|PMID:20109747|PMID:20956421|PMID:21184155|PMID:21664875|PMID:21771083|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24033266|PMID:24122031|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:24985406|PMID:25516070|PMID:25741868|PMID:25849362|PMID:25869295|PMID:25976673|PMID:26457731|PMID:26476733|PMID:26596586|PMID:2682973|PMID:27301863|PMID:27609655|PMID:28083621|PMID:28492532|PMID:28769923|PMID:28783691|PMID:290284|PMID:29107076|PMID:30290665|PMID:30307608|PMID:30778343|PMID:30858051|PMID:30877075|PMID:31503426|PMID:32445296|PMID:32447396|PMID:33365035|PMID:33628209|PMID:8810255|PMID:9630231 11766632 RAG1 recombination activating 1 gene DOID:0112253 combined cellular and humoral immune defects with granulomas ISO RGD:1317876 D RGD:7240710 20180130 OMIM 11766632 RAG1 recombination activating 1 gene DOID:0112253 combined cellular and humoral immune defects with granulomas ISO RGD:1317876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas PMID:10701853|PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:11971977|PMID:12200379|PMID:14670978|PMID:15696198|PMID:15908971|PMID:16211094|PMID:16276422|PMID:16960852|PMID:17075247|PMID:17476359|PMID:17572155|PMID:17890453|PMID:18056378|PMID:18442948|PMID:18463379|PMID:18592361|PMID:18701881|PMID:18768869|PMID:18822103|PMID:19011808|PMID:19064334|PMID:19178939|PMID:19246248|PMID:19458910|PMID:19830075|PMID:19912631|PMID:20109747|PMID:20489056|PMID:20956421|PMID:21131235|PMID:21184155|PMID:21502542|PMID:21624848|PMID:21625022|PMID:21664875|PMID:21771083|PMID:22424479|PMID:23085344|PMID:23122631|PMID:23891352|PMID:24033266|PMID:24122031|PMID:24144642|PMID:24290284|PMID:24331380|PMID:24406074|PMID:24418478|PMID:24472623|PMID:24817258|PMID:24985406|PMID:25104208|PMID:25516070|PMID:25707801|PMID:25739914|PMID:25741868|PMID:25849362|PMID:25869295|PMID:25976673|PMID:26186701|PMID:26457731|PMID:26476733|PMID:26596586|PMID:2682973|PMID:26829731|PMID:27301863|PMID:27484032|PMID:27609655|PMID:27713031|PMID:2808362|PMID:28083621|PMID:28109013|PMID:28216420|PMID:28492532|PMID:28623282|PMID:28747913|PMID:28769923|PMID:28783691|PMID:28864286|PMID:290284|PMID:29104089|PMID:29107076|PMID:30046960|PMID:30290665|PMID:30307608|PMID:30778343|PMID:30858051|PMID:30877075|PMID:31031743|PMID:31130284|PMID:31313695|PMID:31503426|PMID:31980526|PMID:32445296|PMID:32447396|PMID:32655540|PMID:32670274|PMID:32888943|PMID:33117328|PMID:33193364|PMID:33365035|PMID:33628209|PMID:33954879|PMID:8810255|PMID:9630231 11766632 RAG1 recombination activating 1 gene DOID:1059 intellectual disability ISO RGD:1317876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11766632 RAG1 recombination activating 1 gene DOID:10763 hypertension ISO RGD:619790 D RGD:9068941 20200609 RGD PMID:23364523|REF_RGD_ID:7207429 11766632 RAG1 recombination activating 1 gene DOID:10907 microcephaly ISO RGD:1317876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11766632 RAG1 recombination activating 1 gene DOID:5810 adenosine deaminase deficiency ISO RGD:1317876 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bubble boy disease PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:17572155|PMID:17890453|PMID:19178939|PMID:21664875|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24290284|PMID:24406074|PMID:24418478|PMID:25516070|PMID:25741868|PMID:26457731|PMID:26476733|PMID:26596586|PMID:27301863|PMID:28492532|PMID:28769923|PMID:28783691|PMID:30290665|PMID:9630231 11766632 RAG1 recombination activating 1 gene DOID:5810 adenosine deaminase deficiency ISO RGD:1317876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:16276422|PMID:17075247|PMID:17572155|PMID:17890453|PMID:18822103|PMID:19178939|PMID:21664875|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:25516070|PMID:25741868|PMID:26457731|PMID:26476733|PMID:26596586|PMID:27301863|PMID:28492532|PMID:28769923|PMID:28783691|PMID:30290665|PMID:30778343|PMID:30877075|PMID:33365035|PMID:33628209|PMID:8810255|PMID:9630231 11766632 RAG1 recombination activating 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1317876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:17572155|PMID:25741868|PMID:28109013|PMID:28492532|PMID:30290665|PMID:30858051|PMID:9630231 11766632 RAG1 recombination activating 1 gene DOID:627 severe combined immunodeficiency ISO RGD:1317876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:11971977|PMID:16276422|PMID:17075247|PMID:17476359|PMID:17572155|PMID:17890453|PMID:18463379|PMID:18768869|PMID:18822103|PMID:19178939|PMID:20956421|PMID:21664875|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:25516070|PMID:25741868|PMID:25869295|PMID:26186701|PMID:26457731|PMID:26476733|PMID:26596586|PMID:27301863|PMID:27484032|PMID:28492532|PMID:28769923|PMID:28783691|PMID:30290665|PMID:30307608|PMID:30778343|PMID:30877075|PMID:31980526|PMID:32445296|PMID:33193364|PMID:33365035|PMID:33628209|PMID:8810255|PMID:9630231 11766632 RAG1 recombination activating 1 gene DOID:630 genetic disease ISO RGD:1317876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11766632 RAG1 recombination activating 1 gene DOID:9000795 Immunodeficiency 104 ISO RGD:1317876 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Immunodeficiency 104 PMID:24033266|PMID:25741868|PMID:28492532 11766632 RAG1 recombination activating 1 gene DOID:9001542 Albuminuria ISO RGD:619790 D RGD:9068941 20201211 RGD PMID:23364523|REF_RGD_ID:7207429 11766632 RAG1 recombination activating 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1317876 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11766632 RAG1 recombination activating 1 gene DOID:9003234 Hypertensive Nephropathy ISO RGD:619790 D RGD:9068941 20200609 RGD PMID:23364523|REF_RGD_ID:7207429 11766632 RAG1 recombination activating 1 gene DOID:9003234 Hypertensive Nephropathy ameliorates ISO RGD:619790 D RGD:9068941 20210212 RGD PMID:23364523|REF_RGD_ID:7207429 11766632 RAG1 recombination activating 1 gene DOID:9004654 Immune Deficiency Disease ISO RGD:619790 D RGD:9068941 20200609 RGD PMID:29688994|REF_RGD_ID:13628403 11766632 RAG1 recombination activating 1 gene DOID:9005774 Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity ISO RGD:1317876 D RGD:7240710 20180130 OMIM 11766632 RAG1 recombination activating 1 gene DOID:9005774 Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity ISO RGD:1317876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:12200379|PMID:16276422|PMID:16960852|PMID:17075247|PMID:17572155|PMID:17890453|PMID:18592361|PMID:18822103|PMID:19011808|PMID:19178939|PMID:19246248|PMID:20109747|PMID:21664875|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:24985406|PMID:25516070|PMID:25741868|PMID:25849362|PMID:25976673|PMID:26457731|PMID:26476733|PMID:26596586|PMID:2682973|PMID:27301863|PMID:28083621|PMID:28492532|PMID:28769923|PMID:28783691|PMID:30290665|PMID:30307608|PMID:30778343|PMID:30858051|PMID:30877075|PMID:33365035|PMID:33628209|PMID:8810255|PMID:9630231 11766632 RAG1 recombination activating 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 11766646 SPMIP9 sperm microtubule inner protein 9 gene DOID:630 genetic disease ISO RGD:1602971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766665 S100P S100 calcium binding protein P gene DOID:11612 polycystic ovary syndrome ISO RGD:1344746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11766665 S100P S100 calcium binding protein P gene DOID:630 genetic disease ISO RGD:1344746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766665 S100P S100 calcium binding protein P gene DOID:9007364 Mouth Neoplasms ISO RGD:1344746 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31066245 11766671 CCN5 cellular communication network factor 5 gene DOID:2234 focal epilepsy ISO RGD:1351496 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11766671 CCN5 cellular communication network factor 5 gene DOID:630 genetic disease ISO RGD:1351496 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766671 CCN5 cellular communication network factor 5 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1351496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11766684 HMGN4 high mobility group nucleosomal binding domain 4 gene DOID:630 genetic disease ISO RGD:1344098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766688 CHMP4B charged multivesicular body protein 4B gene DOID:0110265 cataract 31 multiple types ISO RGD:1320409 D RGD:7240710 20180130 OMIM 11766688 CHMP4B charged multivesicular body protein 4B gene DOID:0110265 cataract 31 multiple types ISO RGD:1320409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 31 multiple types PMID:10682967|PMID:17701905|PMID:28492532 11766688 CHMP4B charged multivesicular body protein 4B gene DOID:2843 long QT syndrome ISO RGD:1320409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11766688 CHMP4B charged multivesicular body protein 4B gene DOID:630 genetic disease ISO RGD:1320409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766697 OSCAR osteoclast associated Ig-like receptor gene DOID:630 genetic disease ISO RGD:1603587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:0080011 bone resorption disease ISO RGD:730969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15845617|PMID:18496637|PMID:23333834 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:0080162 lupus nephritis ISO RGD:730969 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;protein:increased expression:urine PMID:21691937|REF_RGD_ID:7205483 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:0111582 hereditary arterial and articular multiple calcification syndrome ISO RGD:730969 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum PMID:22386825|REF_RGD_ID:7205494 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21659498|REF_RGD_ID:7205513 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:10763 hypertension severity ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22050177|REF_RGD_ID:7205512 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:11476 osteoporosis ISO RGD:11035 D RGD:9068941 20220825 MouseDO OMIM:166710 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:11476 osteoporosis ISO RGD:730969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17667143 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:1184 nephrotic syndrome ISO RGD:730969 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:22989431|REF_RGD_ID:7205481 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:12466 secondary hyperparathyroidism treatment ISO RGD:730969 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:22156488|REF_RGD_ID:7205487 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:12678 hypercalcemia ISO RGD:730969 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15845617 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:13001 carotid stenosis ISO RGD:730969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26564003 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:730969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:1712 aortic valve stenosis ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20211333|REF_RGD_ID:7205491 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:206 hereditary multiple exostoses ISO RGD:730969 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:3312 bipolar disorder ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20861651|REF_RGD_ID:7205488 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:3393 coronary artery disease ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15926884|REF_RGD_ID:1620893 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:3407 carotid artery disease disease_progression ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15117849|REF_RGD_ID:1624168 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:341 peripheral vascular disease severity ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16115489|REF_RGD_ID:1624125 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:3526 cerebral infarction disease_progression ISO RGD:730969 D RGD:9068941 20200609 RGD PMID:19895657|REF_RGD_ID:7205492 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:4248 coronary stenosis ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15569000|REF_RGD_ID:1624167 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:4676 uremia ISO RGD:730969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:5199 ureteral obstruction ISO RGD:11035 D RGD:9068941 20200609 RGD mRNA:increased expression:tibia PMID:22943310|REF_RGD_ID:7205482 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:5408 Paget's disease of bone susceptibility ISO RGD:730969 D RGD:9068941 20200609 RGD DNA:deletion:exon PMID:12189164|REF_RGD_ID:1620794 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:5419 schizophrenia ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20861651|REF_RGD_ID:7205488 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:5844 myocardial infarction ISO RGD:730969 D RGD:9068941 20200609 RGD PMID:15926884|REF_RGD_ID:1620893 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:6000 congestive heart failure ISO RGD:619802 D RGD:9068941 20200609 RGD mRNA, protein:incereased expression:myocardium PMID:15883214|REF_RGD_ID:1624176 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:630 genetic disease ISO RGD:730969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:65 connective tissue disease ISO RGD:730969 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:7148 rheumatoid arthritis ISO RGD:730969 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23333834 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:783 end stage renal disease severity ISO RGD:730969 D RGD:9068941 20200609 RGD PMID:21479768|REF_RGD_ID:7205485 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:820 myocarditis ISO RGD:619802 D RGD:9068941 20200609 RGD associated with Autoimmune Diseases;mRNA:increased expression:heart myocardium PMID:18417124|REF_RGD_ID:2302361 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:823 periapical periodontitis treatment ISO RGD:619802 D RGD:9068941 20210226 RGD Lactobacillus acidophilus PMID:32436602|REF_RGD_ID:42721981 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:8398 osteoarthritis disease_progression ISO RGD:730969 D RGD:9068941 20200609 RGD PMID:15334463|REF_RGD_ID:1625347 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9000965 Neoplasm Metastasis ISO RGD:730969 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:increased expression:serum PMID:23167338|REF_RGD_ID:7205479 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9001547 Tibial Fractures ISO RGD:619802 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18592139|REF_RGD_ID:2302324 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:730969 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1 PMID:18719882|REF_RGD_ID:7205493 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:730969 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:20727867|REF_RGD_ID:7205514 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9002211 Hyperalgesia ISO RGD:730969 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16769263 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9002457 Experimental Arthritis ISO RGD:619802 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone PMID:16696922|REF_RGD_ID:1624171 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9002457 Experimental Arthritis ISO RGD:730969 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23333834 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9002457 Experimental Arthritis treatment ISO RGD:619802 D RGD:9068941 20210226 RGD Sinomenine CHEBI:9163 PMID:24066131|REF_RGD_ID:42721982 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9002699 Periapical Diseases ISO RGD:619802 D RGD:9068941 20200609 RGD PMID:21793936|REF_RGD_ID:7205516 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9005372 Inflammation ISO RGD:730969 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23333834 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9005421 Paget Disease of Bone 5, Juvenile-Onset ISO RGD:730969 D RGD:7240710 20180214 OMIM 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9005421 Paget Disease of Bone 5, Juvenile-Onset ISO RGD:730969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperphosphatasemia with bone disease PMID:106682|PMID:12124406|PMID:12189164|PMID:14672344|PMID:19436932|PMID:23837846|PMID:25108083|PMID:25741868|PMID:26762549|PMID:28492532 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9006081 Osteolysis ISO RGD:730969 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12548581 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9007096 Stroke ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17258300|REF_RGD_ID:1620776 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9007692 Insulin Resistance ISO RGD:730969 D RGD:9068941 20200609 RGD associated with obesity;protein:increased expression:serum PMID:15936463|REF_RGD_ID:1620889 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9008778 Coronary Artery Calcification severity ISO RGD:730969 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:22943310|REF_RGD_ID:7205482 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9008887 Microvascular Angina ISO RGD:730969 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:15648548|REF_RGD_ID:1620974 11766703 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9352 type 2 diabetes mellitus severity ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22050177|REF_RGD_ID:7205512 11766713 ZNF544 zinc finger protein 544 gene DOID:630 genetic disease ISO RGD:1345922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766742 KCNK16 potassium two pore domain channel subfamily K member 16 gene DOID:630 genetic disease ISO RGD:1319410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766742 KCNK16 potassium two pore domain channel subfamily K member 16 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1319410 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22158537 11766772 PITX1 paired like homeodomain 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733838 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11766772 PITX1 paired like homeodomain 1 gene DOID:0111390 mucopolysaccharidosis Ih ISO RGD:733838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hurler syndrome PMID:25741868 11766772 PITX1 paired like homeodomain 1 gene DOID:11836 clubfoot ISO RGD:733838 D RGD:7240710 20180130 OMIM 11766772 PITX1 paired like homeodomain 1 gene DOID:11836 clubfoot ISO RGD:733838 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY | ClinVar Annotator: match by term: Clubfoot PMID:18950742|PMID:22258522|PMID:25741868|PMID:28492532 11766772 PITX1 paired like homeodomain 1 gene DOID:12849 autistic disorder ISO RGD:733838 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18053270 11766772 PITX1 paired like homeodomain 1 gene DOID:630 genetic disease ISO RGD:733838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11766772 PITX1 paired like homeodomain 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733838 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11766772 PITX1 paired like homeodomain 1 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:733838 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23666240 11766772 PITX1 paired like homeodomain 1 gene DOID:9004044 Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly ISO RGD:733838 D RGD:7240710 20180130 OMIM 11766772 PITX1 paired like homeodomain 1 gene DOID:9004044 Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly ISO RGD:733838 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Liebenberg syndrome PMID:25741868|PMID:28492532 11766772 PITX1 paired like homeodomain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11766772 PITX1 paired like homeodomain 1 gene DOID:9005616 Micrognathism ISO RGD:733838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:25741868 11766772 PITX1 paired like homeodomain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733838 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11766779 CDKL2 cyclin dependent kinase like 2 gene DOID:630 genetic disease ISO RGD:1320063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766779 CDKL2 cyclin dependent kinase like 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 11766779 CDKL2 cyclin dependent kinase like 2 gene DOID:9000918 Disease Progression ISO RGD:1320063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25333262 11766779 CDKL2 cyclin dependent kinase like 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1320063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25333262 11766779 CDKL2 cyclin dependent kinase like 2 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1320063 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11766779 CDKL2 cyclin dependent kinase like 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1320063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25333262 11766779 CDKL2 cyclin dependent kinase like 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1320063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25333262 11766794 F3 coagulation factor III, tissue factor gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:10946084|REF_RGD_ID:11060143 11766794 F3 coagulation factor III, tissue factor gene DOID:0060318 acute promyelocytic leukemia ISO RGD:737354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16206674 11766794 F3 coagulation factor III, tissue factor gene DOID:0060318 acute promyelocytic leukemia ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:10726043|REF_RGD_ID:11340216 11766794 F3 coagulation factor III, tissue factor gene DOID:0060903 thrombosis ISO RGD:737354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11858183|PMID:25339356 11766794 F3 coagulation factor III, tissue factor gene DOID:0060903 thrombosis ISO RGD:737354 D RGD:9068941 20200609 RGD associated with Antiphospholipid Syndrome PMID:9153543|REF_RGD_ID:11340222 11766794 F3 coagulation factor III, tissue factor gene DOID:0070004 myeloid neoplasm treatment ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:16959024|REF_RGD_ID:11340218 11766794 F3 coagulation factor III, tissue factor gene DOID:0080600 COVID-19 severity ISO RGD:737354 D RGD:9068941 20200618 RGD PMID:32198776|REF_RGD_ID:30296673 11766794 F3 coagulation factor III, tissue factor gene DOID:0080600 COVID-19 severity ISO RGD:737354 D RGD:9068941 20200813 RGD DNA:SNP: : (rs72729504) (human) PMID:32747830|REF_RGD_ID:38500238 11766794 F3 coagulation factor III, tissue factor gene DOID:0080630 B-lymphoblastic leukemia/lymphoma treatment ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:19874310|REF_RGD_ID:11341694 11766794 F3 coagulation factor III, tissue factor gene DOID:0081267 graft-versus-host disease treatment ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:20037809|REF_RGD_ID:11340209 11766794 F3 coagulation factor III, tissue factor gene DOID:0111144 preterm premature rupture of the membranes ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19012190|REF_RGD_ID:11340215 11766794 F3 coagulation factor III, tissue factor gene DOID:10591 pre-eclampsia ISO RGD:737354 D RGD:9068941 20200609 RGD associated with Fetal Death;protein:increased expression:plasma PMID:19736615|REF_RGD_ID:11340220 11766794 F3 coagulation factor III, tissue factor gene DOID:10763 hypertension treatment ISO RGD:2587 D RGD:9068941 20200609 RGD PMID:21423288|REF_RGD_ID:11341709 11766794 F3 coagulation factor III, tissue factor gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:737354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7740478 11766794 F3 coagulation factor III, tissue factor gene DOID:10923 sickle cell anemia ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15795541|REF_RGD_ID:11341683 11766794 F3 coagulation factor III, tissue factor gene DOID:11247 disseminated intravascular coagulation ISO RGD:2587 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung, plasma PMID:9426395|REF_RGD_ID:11060265 11766794 F3 coagulation factor III, tissue factor gene DOID:11247 disseminated intravascular coagulation ISO RGD:737354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20642682|PMID:7740478|PMID:9134660 11766794 F3 coagulation factor III, tissue factor gene DOID:11247 disseminated intravascular coagulation ISO RGD:737354 D RGD:9068941 20200609 RGD associated with Leukemia, Myeloid PMID:3802033|REF_RGD_ID:11341675 11766794 F3 coagulation factor III, tissue factor gene DOID:11247 disseminated intravascular coagulation ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:8914465|REF_RGD_ID:11060253 11766794 F3 coagulation factor III, tissue factor gene DOID:11394 adult respiratory distress syndrome ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:10528607|REF_RGD_ID:11340213 11766794 F3 coagulation factor III, tissue factor gene DOID:1168 familial hyperlipidemia ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:8914465|REF_RGD_ID:11060253 11766794 F3 coagulation factor III, tissue factor gene DOID:11713 diabetic angiopathy ISO RGD:737354 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:16371118|REF_RGD_ID:2313861 11766794 F3 coagulation factor III, tissue factor gene DOID:11713 diabetic angiopathy ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:9285207|REF_RGD_ID:2313868 11766794 F3 coagulation factor III, tissue factor gene DOID:1184 nephrotic syndrome ISO RGD:737354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17513194 11766794 F3 coagulation factor III, tissue factor gene DOID:12531 von Willebrand's disease ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:4546024|REF_RGD_ID:11341671 11766794 F3 coagulation factor III, tissue factor gene DOID:2452 thrombophilia ISO RGD:734290 D RGD:9068941 20200609 RGD PMID:15961065|REF_RGD_ID:11341696 11766794 F3 coagulation factor III, tissue factor gene DOID:2913 acute pancreatitis ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:serum (human, mouse) PMID:27923687|REF_RGD_ID:14398732 11766794 F3 coagulation factor III, tissue factor gene DOID:3410 carotid artery thrombosis ISO RGD:737354 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:17969370|REF_RGD_ID:2313859 11766794 F3 coagulation factor III, tissue factor gene DOID:4138 bile duct disease ISO RGD:737354 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:21037076|REF_RGD_ID:11341737 11766794 F3 coagulation factor III, tissue factor gene DOID:5082 liver cirrhosis ISO RGD:734290 D RGD:9068941 20200609 RGD PMID:21037076|REF_RGD_ID:11341737 11766794 F3 coagulation factor III, tissue factor gene DOID:5082 liver cirrhosis ISO RGD:737354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10216089 11766794 F3 coagulation factor III, tissue factor gene DOID:5082 liver cirrhosis severity ISO RGD:734290 D RGD:9068941 20200609 RGD PMID:28883694|REF_RGD_ID:14401724 11766794 F3 coagulation factor III, tissue factor gene DOID:5082 liver cirrhosis severity ISO RGD:737354 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:monocyte (human) PMID:9863491|REF_RGD_ID:14401592 11766794 F3 coagulation factor III, tissue factor gene DOID:5082 liver cirrhosis treatment ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:15946135|REF_RGD_ID:14401577 11766794 F3 coagulation factor III, tissue factor gene DOID:5425 ovarian hyperstimulation syndrome severity ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:12695751|REF_RGD_ID:11340210 11766794 F3 coagulation factor III, tissue factor gene DOID:5844 myocardial infarction treatment ISO RGD:2587 D RGD:9068941 20200609 RGD PMID:21229253|REF_RGD_ID:11062083 11766794 F3 coagulation factor III, tissue factor gene DOID:630 genetic disease ISO RGD:737354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766794 F3 coagulation factor III, tissue factor gene DOID:8947 diabetic retinopathy ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor,serum PMID:12417540|REF_RGD_ID:2313865 11766794 F3 coagulation factor III, tissue factor gene DOID:9000169 Systemic Inflammatory Response Syndrome ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:9366751|REF_RGD_ID:11341681 11766794 F3 coagulation factor III, tissue factor gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:19535796|REF_RGD_ID:11341690 11766794 F3 coagulation factor III, tissue factor gene DOID:9000469 Viral Myocarditis ISO RGD:734290 D RGD:9068941 20200609 RGD PMID:18495150|REF_RGD_ID:11341693 11766794 F3 coagulation factor III, tissue factor gene DOID:9000612 Cardiac Allograft Vasculopathy ISO RGD:2587 D RGD:9068941 20200609 RGD PMID:9916935|REF_RGD_ID:11341701 11766794 F3 coagulation factor III, tissue factor gene DOID:9001268 Embolism and Thrombosis ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:16038715|REF_RGD_ID:11340219 11766794 F3 coagulation factor III, tissue factor gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2587 D RGD:9068941 20200609 RGD PMID:11750579|REF_RGD_ID:11341708 11766794 F3 coagulation factor III, tissue factor gene DOID:9002165 Diabetic Nephropathies ISO RGD:737354 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:15004866|REF_RGD_ID:2313863 11766794 F3 coagulation factor III, tissue factor gene DOID:9002488 Peritoneal Fibrosis ISO RGD:2587 D RGD:9068941 20200609 RGD PMID:19458308|REF_RGD_ID:7394780 11766794 F3 coagulation factor III, tissue factor gene DOID:9002514 Neointima treatment ISO RGD:2587 D RGD:9068941 20200609 RGD PMID:22140576|REF_RGD_ID:11341672 11766794 F3 coagulation factor III, tissue factor gene DOID:9003121 Thromboembolism ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:24402608|REF_RGD_ID:11341738 11766794 F3 coagulation factor III, tissue factor gene DOID:9003139 Cardiac Fibrosis ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:12426405|REF_RGD_ID:11341691 11766794 F3 coagulation factor III, tissue factor gene DOID:9003281 Spontaneous Abortions ISO RGD:734290 D RGD:9068941 20200609 RGD PMID:12579195|REF_RGD_ID:1300308 11766794 F3 coagulation factor III, tissue factor gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:23873874|REF_RGD_ID:11340221 11766794 F3 coagulation factor III, tissue factor gene DOID:9003871 Venous Thrombosis ISO RGD:737354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14967414 11766794 F3 coagulation factor III, tissue factor gene DOID:9004484 Sepsis ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:9875912|REF_RGD_ID:11340217 11766794 F3 coagulation factor III, tissue factor gene DOID:9004484 Sepsis treatment ISO RGD:2587 D RGD:9068941 20200609 RGD PMID:26311287|REF_RGD_ID:11341736 11766794 F3 coagulation factor III, tissue factor gene DOID:9004610 Acute Lung Injury ISO RGD:2587 D RGD:9068941 20200609 RGD protein:increased expression: respiratory system fluid/secretion PMID:21964405|REF_RGD_ID:11341740 11766794 F3 coagulation factor III, tissue factor gene DOID:9005149 Ovary Reperfusion Injury treatment ISO RGD:2587 D RGD:9068941 20200609 RGD PMID:26370456|REF_RGD_ID:11341710 11766794 F3 coagulation factor III, tissue factor gene DOID:9005372 Inflammation ISO RGD:2587 D RGD:9068941 20200609 RGD protein:increased expression:lung, pes PMID:25772383|REF_RGD_ID:11341739 11766794 F3 coagulation factor III, tissue factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734290 D RGD:9068941 20200609 RGD protein:increased activity:kidney PMID:15990447|REF_RGD_ID:2313862 11766794 F3 coagulation factor III, tissue factor gene DOID:9005930 Endotoxemia ISO RGD:2587 D RGD:9068941 20200609 RGD PMID:21396682|REF_RGD_ID:5147765 11766794 F3 coagulation factor III, tissue factor gene DOID:9005930 Endotoxemia ISO RGD:737354 D RGD:9068941 20200609 RGD associated with Protein C Deficiency PMID:20858853|REF_RGD_ID:11341685 11766794 F3 coagulation factor III, tissue factor gene DOID:9005930 Endotoxemia treatment ISO RGD:734290 D RGD:9068941 20200609 RGD PMID:8956768|REF_RGD_ID:11340208 11766794 F3 coagulation factor III, tissue factor gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2587 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:25883098|REF_RGD_ID:11341735 11766794 F3 coagulation factor III, tissue factor gene DOID:9006646 Metabolic Syndrome ISO RGD:737354 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:12417540|REF_RGD_ID:2313865 11766794 F3 coagulation factor III, tissue factor gene DOID:9007102 Myocardial Ischemia ISO RGD:737354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16286589 11766794 F3 coagulation factor III, tissue factor gene DOID:9007116 Snake Bites ISO RGD:2587 D RGD:9068941 20200609 RGD protein:increased expression:lung, skin, plasma PMID:24831016|REF_RGD_ID:11341687 11766794 F3 coagulation factor III, tissue factor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22407844 11766794 F3 coagulation factor III, tissue factor gene DOID:9008217 Hemorrhage ISO RGD:734290 D RGD:9068941 20200609 RGD PMID:8692802|REF_RGD_ID:11341698 11766794 F3 coagulation factor III, tissue factor gene DOID:9008691 Liver Injury treatment ISO RGD:734290 D RGD:9068941 20200609 RGD associated with severe acute pancreatitis PMID:27923687|REF_RGD_ID:14398732 11766794 F3 coagulation factor III, tissue factor gene DOID:9008939 Breast Neoplasms ISO RGD:737354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15562024 11766794 F3 coagulation factor III, tissue factor gene DOID:9119 acute myeloid leukemia ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:2617479|REF_RGD_ID:11340207 11766794 F3 coagulation factor III, tissue factor gene DOID:9351 diabetes mellitus ISO RGD:737354 D RGD:9068941 20200609 RGD protein:decreased expression:urine PMID:9212353|REF_RGD_ID:2313869 11766794 F3 coagulation factor III, tissue factor gene DOID:9351 diabetes mellitus ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:8914465|REF_RGD_ID:11060253 11766794 F3 coagulation factor III, tissue factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased activity:plasma PMID:17785358|REF_RGD_ID:2312381 11766794 F3 coagulation factor III, tissue factor gene DOID:9952 acute lymphoblastic leukemia ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:8429686|REF_RGD_ID:11340211 11766806 LY9 lymphocyte antigen 9 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1318055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 11766806 LY9 lymphocyte antigen 9 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1318055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11766806 LY9 lymphocyte antigen 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1318055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11766806 LY9 lymphocyte antigen 9 gene DOID:630 genetic disease ISO RGD:1318055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766806 LY9 lymphocyte antigen 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11766826 CCDC158 coiled-coil domain containing 158 gene DOID:630 genetic disease ISO RGD:1602411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766826 CCDC158 coiled-coil domain containing 158 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1602411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 11766826 CCDC158 coiled-coil domain containing 158 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1602411 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11766861 APOA1 apolipoprotein A1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:735962 D RGD:9068941 20200609 RGD protein: decreased expression: respiratory system fluid/secretion PMID:20463180|REF_RGD_ID:5508222 11766861 APOA1 apolipoprotein A1 gene DOID:0050636 familial visceral amyloidosis ISO RGD:735962 D RGD:7240710 20180130 OMIM 11766861 APOA1 apolipoprotein A1 gene DOID:0050636 familial visceral amyloidosis ISO RGD:735962 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyloidosis, cardiac and cutaneous | ClinVar Annotator: match by term: Familial visceral amyloidosis PMID:10198255|PMID:10487826|PMID:12050338|PMID:1502149|PMID:17303779|PMID:1901417|PMID:20884842|PMID:2108924|PMID:2123470|PMID:21443680|PMID:21820994|PMID:23209431|PMID:23770607|PMID:23806608|PMID:24081495|PMID:25034063|PMID:25741868|PMID:26530418|PMID:26562506|PMID:26605794|PMID:27135400|PMID:27785680|PMID:28492532|PMID:29083407|PMID:29353225|PMID:30184436|PMID:30333156|PMID:3141894|PMID:3142462|PMID:32041611|PMID:32666307|PMID:4304452|PMID:8675681|PMID:9916936 11766861 APOA1 apolipoprotein A1 gene DOID:0050700 cardiomyopathy ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 11766861 APOA1 apolipoprotein A1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 11766861 APOA1 apolipoprotein A1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11766861 APOA1 apolipoprotein A1 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:10173 D RGD:9068941 20200609 RGD PMID:26420354|REF_RGD_ID:25671437 11766861 APOA1 apolipoprotein A1 gene DOID:0080322 polycystic kidney disease ISO RGD:736547 D RGD:9068941 20200609 RGD PMID:19637234|REF_RGD_ID:7241572 11766861 APOA1 apolipoprotein A1 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:2130 D RGD:9068941 20200609 RGD mRNA, protein: increased expression:liver, serum (rat) PMID:30187493|REF_RGD_ID:25671434 11766861 APOA1 apolipoprotein A1 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:735962 D RGD:9068941 20200609 RGD human gene in mouse model PMID:24793484|REF_RGD_ID:21408551 11766861 APOA1 apolipoprotein A1 gene DOID:0080690 RASopathy ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11766861 APOA1 apolipoprotein A1 gene DOID:0080957 primary hypoalphalipoproteinemia 1 ISO RGD:735962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 PMID:17303779|PMID:1898657|PMID:1901417|PMID:20884842|PMID:21443680|PMID:21820994|PMID:23209431|PMID:23770607|PMID:23806608|PMID:24081495|PMID:25034063|PMID:25741868|PMID:26530418|PMID:26562506|PMID:26605794|PMID:27135400|PMID:27785680|PMID:28492532|PMID:28870971|PMID:29083407|PMID:29353225|PMID:30184436|PMID:30333156|PMID:32041611|PMID:32666307|PMID:8240372 11766861 APOA1 apolipoprotein A1 gene DOID:0080958 primary hypoalphalipoproteinemia 2 ISO RGD:735962 D RGD:7240710 20180130 OMIM 11766861 APOA1 apolipoprotein A1 gene DOID:0080958 primary hypoalphalipoproteinemia 2 ISO RGD:735962 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Apolipoprotein A-I deficiency | ClinVar Annotator: match by term: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2 | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2, intermediate PMID:1901417|PMID:2108924|PMID:2123470|PMID:23209431|PMID:2506176|PMID:2512329|PMID:25741868|PMID:26530418|PMID:28492532|PMID:29083407|PMID:29353225|PMID:3141894|PMID:3142462|PMID:4304452|PMID:6800349|PMID:7981179|PMID:9514407|PMID:9931341 11766861 APOA1 apolipoprotein A1 gene DOID:0090028 familial isolated deficiency of vitamin E ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18458655 11766861 APOA1 apolipoprotein A1 gene DOID:0110802 hereditary spastic paraplegia 50 ISO RGD:735962 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 PMID:19559397 11766861 APOA1 apolipoprotein A1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 11766861 APOA1 apolipoprotein A1 gene DOID:0111123 nephronophthisis 15 ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 11766861 APOA1 apolipoprotein A1 gene DOID:0111971 immunodeficiency 18 ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 11766861 APOA1 apolipoprotein A1 gene DOID:0111972 immunodeficiency 19 ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 11766861 APOA1 apolipoprotein A1 gene DOID:0111973 immunodeficiency 17 ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 11766861 APOA1 apolipoprotein A1 gene DOID:1059 intellectual disability ISO RGD:735962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11766861 APOA1 apolipoprotein A1 gene DOID:10652 Alzheimer's disease resistance ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:19863188|REF_RGD_ID:5508218 11766861 APOA1 apolipoprotein A1 gene DOID:10652 Alzheimer's disease resistance ISO RGD:735962 D RGD:9068941 20200609 RGD DNA: : :transgenic model PMID:20847045|REF_RGD_ID:5508212 11766861 APOA1 apolipoprotein A1 gene DOID:10763 hypertension ISO RGD:2130 D RGD:9068941 20200609 RGD PMID:23401751|REF_RGD_ID:7241867 11766861 APOA1 apolipoprotein A1 gene DOID:10763 hypertension ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18224302 11766861 APOA1 apolipoprotein A1 gene DOID:10976 membranous glomerulonephritis ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7900854 11766861 APOA1 apolipoprotein A1 gene DOID:11446 sciatic neuropathy ISO RGD:2130 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve: PMID:2493483|REF_RGD_ID:7495790 11766861 APOA1 apolipoprotein A1 gene DOID:11512 Budd-Chiari syndrome ISO RGD:735962 D RGD:9068941 20200609 RGD protein: decreased expression: plasma (human) PMID:21145806|REF_RGD_ID:25671435 11766861 APOA1 apolipoprotein A1 gene DOID:1184 nephrotic syndrome ISO RGD:2130 D RGD:9068941 20200609 RGD PMID:18614621|REF_RGD_ID:2313652 11766861 APOA1 apolipoprotein A1 gene DOID:13241 Behcet's disease ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12074830 11766861 APOA1 apolipoprotein A1 gene DOID:1387 hypolipoproteinemia ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:9931341|REF_RGD_ID:734583 11766861 APOA1 apolipoprotein A1 gene DOID:1388 Tangier disease ISO RGD:735962 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Tangier disease PMID:25341944|PMID:25741868|PMID:28492532|PMID:7583566|PMID:7981179|PMID:8282791 11766861 APOA1 apolipoprotein A1 gene DOID:1391 Norum disease ISO RGD:735962 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: APOLIPOPROTEIN A-I (GIESSEN) PMID:28492532|PMID:6489332|PMID:7082443 11766861 APOA1 apolipoprotein A1 gene DOID:14330 Parkinson's disease ISO RGD:735962 D RGD:9068941 20200609 RGD protein: altered expression: cerebrospinal fluid: 2 different isoforms PMID:20085559|REF_RGD_ID:5508216 11766861 APOA1 apolipoprotein A1 gene DOID:1470 major depressive disorder susceptibility ISO RGD:2130 D RGD:9068941 20200609 RGD protein: increased expression: cerebrospinal fluid PMID:20580919|REF_RGD_ID:5128563 11766861 APOA1 apolipoprotein A1 gene DOID:1790 malignant mesothelioma ISO RGD:735962 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 11766861 APOA1 apolipoprotein A1 gene DOID:1793 pancreatic cancer ISO RGD:735962 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17312459|REF_RGD_ID:2325758 11766861 APOA1 apolipoprotein A1 gene DOID:1793 pancreatic cancer ISO RGD:735962 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:17332923|REF_RGD_ID:2325757 11766861 APOA1 apolipoprotein A1 gene DOID:1883 hepatitis C severity ISO RGD:735962 D RGD:9068941 20200609 RGD associated with liver cirrhosis; protein:decreased expression:serum (human) PMID:19818291|REF_RGD_ID:25671441 11766861 APOA1 apolipoprotein A1 gene DOID:1936 atherosclerosis ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:23078847|REF_RGD_ID:7241852 11766861 APOA1 apolipoprotein A1 gene DOID:1936 atherosclerosis ISO RGD:735962 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33861588 11766861 APOA1 apolipoprotein A1 gene DOID:1936 atherosclerosis treatment ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:18287885|REF_RGD_ID:7241575 11766861 APOA1 apolipoprotein A1 gene DOID:2349 arteriosclerosis treatment ISO RGD:2130 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:20639628|REF_RGD_ID:5508221 11766861 APOA1 apolipoprotein A1 gene DOID:2377 multiple sclerosis ISO RGD:735962 D RGD:9068941 20200609 RGD protein:increased expression: serum PMID:20350318|REF_RGD_ID:5508215 11766861 APOA1 apolipoprotein A1 gene DOID:2671 transitional cell carcinoma ISO RGD:2130 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder PMID:19399409|REF_RGD_ID:2325183 11766861 APOA1 apolipoprotein A1 gene DOID:2671 transitional cell carcinoma severity ISO RGD:735962 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:21496341|REF_RGD_ID:7241214 11766861 APOA1 apolipoprotein A1 gene DOID:299 adenocarcinoma ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 11766861 APOA1 apolipoprotein A1 gene DOID:3146 lipid metabolism disorder ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6816881 11766861 APOA1 apolipoprotein A1 gene DOID:3393 coronary artery disease ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27135400 11766861 APOA1 apolipoprotein A1 gene DOID:3393 coronary artery disease ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:2128269|REF_RGD_ID:1601188 11766861 APOA1 apolipoprotein A1 gene DOID:3770 pulmonary fibrosis ISO RGD:10173 D RGD:9068941 20200609 RGD protein:decreased expression: respiratory system fluid/secretion PMID:20463180|REF_RGD_ID:5508222 11766861 APOA1 apolipoprotein A1 gene DOID:3910 lung adenocarcinoma ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 11766861 APOA1 apolipoprotein A1 gene DOID:4947 cholangiocarcinoma ISO RGD:735962 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19486127|REF_RGD_ID:2325756 11766861 APOA1 apolipoprotein A1 gene DOID:5082 liver cirrhosis ISO RGD:735962 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:27106140|REF_RGD_ID:25671439 11766861 APOA1 apolipoprotein A1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12646808 11766861 APOA1 apolipoprotein A1 gene DOID:5409 lung small cell carcinoma treatment ISO RGD:735962 D RGD:9068941 20220908 RGD PMID:26996551|REF_RGD_ID:11561502 11766861 APOA1 apolipoprotein A1 gene DOID:5844 myocardial infarction ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:20176799|REF_RGD_ID:2325759 11766861 APOA1 apolipoprotein A1 gene DOID:5844 myocardial infarction no_association ISO RGD:735962 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:10428310|REF_RGD_ID:1578442 11766861 APOA1 apolipoprotein A1 gene DOID:6000 congestive heart failure ISO RGD:735962 D RGD:9068941 20200609 RGD protein: decreased expression: serum PMID:17517342|REF_RGD_ID:5508219 11766861 APOA1 apolipoprotein A1 gene DOID:630 genetic disease ISO RGD:735962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766861 APOA1 apolipoprotein A1 gene DOID:684 hepatocellular carcinoma ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11766861 APOA1 apolipoprotein A1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735962 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:23935864|REF_RGD_ID:25671438 11766861 APOA1 apolipoprotein A1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735962 D RGD:9068941 20220908 RGD associated with hepatitis B; PMID:31211449|REF_RGD_ID:153350082 11766861 APOA1 apolipoprotein A1 gene DOID:687 hepatoblastoma ISO RGD:735962 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:serum (human) PMID:27974108|REF_RGD_ID:25671440 11766861 APOA1 apolipoprotein A1 gene DOID:783 end stage renal disease ISO RGD:735962 D RGD:9068941 20200609 RGD protein:decreased expression:blood PMID:22515595|REF_RGD_ID:7241208 11766861 APOA1 apolipoprotein A1 gene DOID:783 end stage renal disease ISO RGD:735962 D RGD:9068941 20200609 RGD protein:increased expression, increased glycation:plasma PMID:18079481|REF_RGD_ID:7241576 11766861 APOA1 apolipoprotein A1 gene DOID:783 end stage renal disease treatment ISO RGD:10173 D RGD:9068941 20200609 RGD associated with Hyperlipidemias PMID:20488818|REF_RGD_ID:7241571 11766861 APOA1 apolipoprotein A1 gene DOID:784 chronic kidney disease ISO RGD:735962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868 11766861 APOA1 apolipoprotein A1 gene DOID:7998 hyperthyroidism ISO RGD:2130 D RGD:9068941 20200609 RGD PMID:1466661|REF_RGD_ID:1599158 11766861 APOA1 apolipoprotein A1 gene DOID:9000197 Edema ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20972769 11766861 APOA1 apolipoprotein A1 gene DOID:9000217 Stomach Neoplasms ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696|PMID:19424620 11766861 APOA1 apolipoprotein A1 gene DOID:9000543 Death ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20972769 11766861 APOA1 apolipoprotein A1 gene DOID:9000808 Hypercholesterolemia ISO RGD:735962 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-75G>A, 83C>T (human) PMID:16309370|REF_RGD_ID:1601184 11766861 APOA1 apolipoprotein A1 gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:735962 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial amyloid polyneuropathy type III PMID:2123470|PMID:25741868|PMID:3142462|PMID:4304452 11766861 APOA1 apolipoprotein A1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2130 D RGD:9068941 20200609 RGD PMID:2123716|REF_RGD_ID:1599161 11766861 APOA1 apolipoprotein A1 gene DOID:9002117 Hypoalphalipoproteinemias ISO RGD:735962 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY PMID:1901417|PMID:2108924|PMID:2123470|PMID:23209431|PMID:25741868|PMID:26530418|PMID:28492532|PMID:29083407|PMID:29353225|PMID:3141894|PMID:3142462|PMID:4304452 11766861 APOA1 apolipoprotein A1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:9829487|REF_RGD_ID:2313960 11766861 APOA1 apolipoprotein A1 gene DOID:9002513 Hypoproteinemia ISO RGD:2130 D RGD:9068941 20200609 RGD PMID:2123716|REF_RGD_ID:1599161 11766861 APOA1 apolipoprotein A1 gene DOID:9002669 Hypoxia ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18258771 11766861 APOA1 apolipoprotein A1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:735962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11766861 APOA1 apolipoprotein A1 gene DOID:9004283 Transplant Rejection ISO RGD:735962 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:21730889|REF_RGD_ID:7241209 11766861 APOA1 apolipoprotein A1 gene DOID:9004484 Sepsis treatment ISO RGD:2130 D RGD:9068941 20200609 RGD PMID:19561306|REF_RGD_ID:7241869 11766861 APOA1 apolipoprotein A1 gene DOID:9004492 Familial Amyloidosis ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:22495291|REF_RGD_ID:7241855 11766861 APOA1 apolipoprotein A1 gene DOID:9004581 Pediatric Obesity ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25137265 11766861 APOA1 apolipoprotein A1 gene DOID:9004610 Acute Lung Injury ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20972769 11766861 APOA1 apolipoprotein A1 gene DOID:9005172 Lung Neoplasms ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19180532 11766861 APOA1 apolipoprotein A1 gene DOID:9005236 Drug Eruptions ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21055120 11766861 APOA1 apolipoprotein A1 gene DOID:9005372 Inflammation ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20972769 11766861 APOA1 apolipoprotein A1 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735962 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-75G>A (human) PMID:9699897|REF_RGD_ID:1601186 11766861 APOA1 apolipoprotein A1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2130 D RGD:9068941 20200609 RGD PMID:17488882|REF_RGD_ID:7241577 11766861 APOA1 apolipoprotein A1 gene DOID:9005930 Endotoxemia treatment ISO RGD:2130 D RGD:9068941 20200609 RGD PMID:23227448|REF_RGD_ID:7241868 11766861 APOA1 apolipoprotein A1 gene DOID:9005930 Endotoxemia treatment ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:18593575|REF_RGD_ID:7241573 11766861 APOA1 apolipoprotein A1 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:18535924|REF_RGD_ID:7241574 11766861 APOA1 apolipoprotein A1 gene DOID:9006599 Hypertriglyceridemia no_association ISO RGD:735962 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-75G>A PMID:7910586|REF_RGD_ID:1601187 11766861 APOA1 apolipoprotein A1 gene DOID:9006646 Metabolic Syndrome ISO RGD:735962 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:21410987|REF_RGD_ID:5508220 11766861 APOA1 apolipoprotein A1 gene DOID:9006646 Metabolic Syndrome ISO RGD:735962 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:17217166|REF_RGD_ID:1601183 11766861 APOA1 apolipoprotein A1 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18332268 11766861 APOA1 apolipoprotein A1 gene DOID:9007096 Stroke ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19433014 11766861 APOA1 apolipoprotein A1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 11766861 APOA1 apolipoprotein A1 gene DOID:9007389 Acute Tubulointerstitial Nephritis ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:22659101|REF_RGD_ID:7241207 11766861 APOA1 apolipoprotein A1 gene DOID:9007661 Dwarfism ISO RGD:735962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11766861 APOA1 apolipoprotein A1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:735962 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver, serum (human) PMID:27015844|REF_RGD_ID:25671432 11766861 APOA1 apolipoprotein A1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:735962 D RGD:9068941 20200609 RGD protein:decreased expression PMID:21726101|REF_RGD_ID:5508214 11766861 APOA1 apolipoprotein A1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:735962 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:25115832|REF_RGD_ID:25671433 11766861 APOA1 apolipoprotein A1 gene DOID:9074 systemic lupus erythematosus severity ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:20131231|REF_RGD_ID:7241864 11766861 APOA1 apolipoprotein A1 gene DOID:9074 systemic lupus erythematosus treatment ISO RGD:10173 D RGD:9068941 20200609 RGD PMID:20482780|REF_RGD_ID:7241863 11766861 APOA1 apolipoprotein A1 gene DOID:9246 cerebral amyloid angiopathy ISO RGD:10173 D RGD:9068941 20200609 RGD PMID:20739292|REF_RGD_ID:5508213 11766861 APOA1 apolipoprotein A1 gene DOID:9282 ocular hypertension ISO RGD:2130 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:18626730|REF_RGD_ID:2303613 11766861 APOA1 apolipoprotein A1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735962 D RGD:9068941 20200609 RGD protein:altered localization:plasma lipoprotein particle PMID:9649952|REF_RGD_ID:2313961 11766861 APOA1 apolipoprotein A1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735962 D RGD:9068941 20200609 RGD protein:increased expression, increased glycation:plasma PMID:18079481|REF_RGD_ID:7241576 11766861 APOA1 apolipoprotein A1 gene DOID:9452 fatty liver disease treatment ISO RGD:2130 D RGD:9068941 20200609 RGD PMID:30231880|REF_RGD_ID:25671436 11766861 APOA1 apolipoprotein A1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735962 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:9578960|REF_RGD_ID:2313962 11766861 APOA1 apolipoprotein A1 gene DOID:9970 obesity ISO RGD:10173 D RGD:9068941 20200609 RGD PMID:9933608|REF_RGD_ID:2313959 11766861 APOA1 apolipoprotein A1 gene DOID:9970 obesity ISO RGD:735962 D RGD:9068941 20200609 RGD protein:decreased expression PMID:12725089|REF_RGD_ID:1601185 11766873 SECISBP2 SECIS binding protein 2 gene DOID:630 genetic disease ISO RGD:1343356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11766873 SECISBP2 SECIS binding protein 2 gene DOID:9002068 Abnormal Thyroid Hormone Metabolism 1 ISO RGD:1343356 D RGD:7240710 20180130 OMIM 11766873 SECISBP2 SECIS binding protein 2 gene DOID:9002068 Abnormal Thyroid Hormone Metabolism 1 ISO RGD:1343356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid hormone metabolism, abnormal 1 PMID:16228000|PMID:24033266|PMID:25741868|PMID:29882503 11766873 SECISBP2 SECIS binding protein 2 gene DOID:9006257 Growth Disorders ISO RGD:1343356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19602558 11766873 SECISBP2 SECIS binding protein 2 gene DOID:9252 amino acid metabolic disorder ISO RGD:1343356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16228000 11766929 ERLIN2 ER lipid raft associated 2 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1350824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 11766929 ERLIN2 ER lipid raft associated 2 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1350824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant PMID:25741868 11766929 ERLIN2 ER lipid raft associated 2 gene DOID:0110771 hereditary spastic paraplegia 18 ISO RGD:1350824 D RGD:7240710 20180130 OMIM 11766929 ERLIN2 ER lipid raft associated 2 gene DOID:0110771 hereditary spastic paraplegia 18 ISO RGD:1350824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 18 PMID:21330303|PMID:23109145|PMID:25741868 11766929 ERLIN2 ER lipid raft associated 2 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1350824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 11766929 ERLIN2 ER lipid raft associated 2 gene DOID:1059 intellectual disability ISO RGD:1350824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11766929 ERLIN2 ER lipid raft associated 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1350824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18414213|PMID:25741868|PMID:28492532|PMID:28832565|PMID:32147972 11766929 ERLIN2 ER lipid raft associated 2 gene DOID:607 paraplegia ISO RGD:1350824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:17576681|PMID:18414213|PMID:21330303|PMID:23109145|PMID:24482476|PMID:25741868|PMID:27824013|PMID:28492532|PMID:28832565|PMID:30564185|PMID:32147972|PMID:9536098 11766929 ERLIN2 ER lipid raft associated 2 gene DOID:630 genetic disease ISO RGD:1350824 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28832565 11766929 ERLIN2 ER lipid raft associated 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1350824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11766962 SMTNL1 smoothelin like 1 gene DOID:1059 intellectual disability ISO RGD:1601815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11766962 SMTNL1 smoothelin like 1 gene DOID:630 genetic disease ISO RGD:1601815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11767074 VPS33A VPS33A core subunit of CORVET and HOPS complexes gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:731827 D RGD:9068941 20220825 MouseDO 11767074 VPS33A VPS33A core subunit of CORVET and HOPS complexes gene DOID:630 genetic disease ISO RGD:731826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11767074 VPS33A VPS33A core subunit of CORVET and HOPS complexes gene DOID:9006933 Mucopolysaccharidosis-Plus Syndrome ISO RGD:731826 D RGD:7240710 20190315 OMIM 11767074 VPS33A VPS33A core subunit of CORVET and HOPS complexes gene DOID:9006933 Mucopolysaccharidosis-Plus Syndrome ISO RGD:731826 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis-plus syndrome PMID:25741868|PMID:27547915|PMID:28013294|PMID:28492532|PMID:31070736 11767090 SART3 spliceosome associated factor 3, U4/U6 recycling protein gene DOID:630 genetic disease ISO RGD:1323212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11767090 SART3 spliceosome associated factor 3, U4/U6 recycling protein gene DOID:9000408 Porokeratosis 3, Multiple Types ISO RGD:1323212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Porokeratosis, disseminated superficial actinic 1 PMID:15840095|PMID:17392836 11767124 POLR3A RNA polymerase III subunit A gene DOID:0060789 hypomyelinating leukodystrophy 4 ISO RGD:1351863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4 PMID:29389947 11767124 POLR3A RNA polymerase III subunit A gene DOID:0060794 hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism ISO RGD:1351863 D RGD:7240710 20180130 OMIM 11767124 POLR3A RNA polymerase III subunit A gene DOID:0060794 hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism ISO RGD:1351863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 4h syndrome | ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy PMID:12605447|PMID:16199547|PMID:17159124|PMID:17576681|PMID:20640464|PMID:21855841|PMID:22036171|PMID:22451160|PMID:22819058|PMID:22855961|PMID:23355746|PMID:23694757|PMID:23965854|PMID:25339210|PMID:25741868|PMID:26096995|PMID:26752647|PMID:27029625|PMID:27506977|PMID:27521716|PMID:27535217|PMID:27612211|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29618326|PMID:29691679|PMID:30323018|PMID:30414627|PMID:30450527|PMID:30847471|PMID:31438894|PMID:31637490|PMID:31932101|PMID:31940116|PMID:32214227|PMID:32373668|PMID:32582862|PMID:32597037|PMID:32860008|PMID:33134517|PMID:33491183|PMID:33644862|PMID:34284285|PMID:34589056|PMID:614258|PMID:9536098 11767124 POLR3A RNA polymerase III subunit A gene DOID:0060797 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism ISO RGD:1351863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome PMID:21855841|PMID:22855961|PMID:25741868|PMID:27029625|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32597037|PMID:33491183 11767124 POLR3A RNA polymerase III subunit A gene DOID:0081333 Wiedemann-Rautenstrauch syndrome ISO RGD:1351863 D RGD:7240710 20190612 OMIM 11767124 POLR3A RNA polymerase III subunit A gene DOID:0081333 Wiedemann-Rautenstrauch syndrome ISO RGD:1351863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal pseudo-hydrocephalic progeroid syndrome | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch syndrome | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome PMID:12605447|PMID:16007586|PMID:16199547|PMID:19938095|PMID:21855841|PMID:22036171|PMID:22451160|PMID:22855961|PMID:23355746|PMID:23965854|PMID:25339210|PMID:25741868|PMID:25898808|PMID:27029625|PMID:27612211|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30414627|PMID:30450527|PMID:30847471|PMID:31637490|PMID:31940116|PMID:32214227|PMID:32373668|PMID:32582862|PMID:32597037|PMID:32860008|PMID:33491183|PMID:614258 11767124 POLR3A RNA polymerase III subunit A gene DOID:0111887 Diamond-Blackfan anemia 3 ISO RGD:1351863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 PMID:25741868 11767124 POLR3A RNA polymerase III subunit A gene DOID:10579 leukodystrophy ISO RGD:1351863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:16199547|PMID:21855841|PMID:22855961|PMID:25339210|PMID:25741868|PMID:27612211|PMID:28459997|PMID:28492532|PMID:30414627|PMID:30450527|PMID:30847471 11767124 POLR3A RNA polymerase III subunit A gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1351863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:22855961|PMID:25741868|PMID:27029625 11767124 POLR3A RNA polymerase III subunit A gene DOID:630 genetic disease ISO RGD:1351863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:21855841|PMID:22855961|PMID:25133958|PMID:25339210|PMID:25741868|PMID:26752647|PMID:27029625|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32597037|PMID:33491183|PMID:9536098 11767124 POLR3A RNA polymerase III subunit A gene DOID:9005213 Dysmyelinating Leukodystrophy with Oligodontia ISO RGD:1351863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dentoleukoencephalopathy PMID:21855841|PMID:22855961|PMID:25339210|PMID:25741868|PMID:27029625|PMID:27612211|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30414627|PMID:30450527|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32582862|PMID:32597037|PMID:33491183|PMID:34589056|PMID:614258 11767124 POLR3A RNA polymerase III subunit A gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1351863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:28492532 11767156 LOC100969322 putative GTP-binding protein 6 gene DOID:12849 autistic disorder ISO RGD:1353569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11767157 GDNF glial cell derived neurotrophic factor gene DOID:0050548 hereditary sensory neuropathy ISO RGD:12301711 D RGD:9068941 20210604 OMIA Acral mutilation syndrome PMID:15842538|PMID:20961556|PMID:28033318|PMID:30955094|PMID:4725277|PMID:6203326|PMID:6259871|PMID:6574711 11767157 GDNF glial cell derived neurotrophic factor gene DOID:0050771 pheochromocytoma ISO RGD:735823 D RGD:9068941 20210820 CTD CTD Direct Evidence: marker/mechanism PMID:9215674 11767157 GDNF glial cell derived neurotrophic factor gene DOID:0060161 Kennedy's disease ISO RGD:735823 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:10447463|REF_RGD_ID:6218978 11767157 GDNF glial cell derived neurotrophic factor gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:735823 D RGD:9068941 20210820 CTD CTD Direct Evidence: marker/mechanism PMID:9497256 11767157 GDNF glial cell derived neurotrophic factor gene DOID:0080855 Parkinsonism ISO RGD:2677 D RGD:9068941 20200609 RGD PMID:21865882|REF_RGD_ID:6218962 11767157 GDNF glial cell derived neurotrophic factor gene DOID:0080855 Parkinsonism ISO RGD:2677 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:22186119|REF_RGD_ID:5686884 11767157 GDNF glial cell derived neurotrophic factor gene DOID:0080855 Parkinsonism ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12213621|PMID:9266731 11767157 GDNF glial cell derived neurotrophic factor gene DOID:0080855 Parkinsonism treatment ISO RGD:735823 D RGD:9068941 20200609 RGD PMID:16018990|REF_RGD_ID:8657066 11767157 GDNF glial cell derived neurotrophic factor gene DOID:10487 Hirschsprung's disease ISO RGD:735823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 PMID:10790203|PMID:10917288|PMID:11565554|PMID:11823451|PMID:12640453|PMID:19184120|PMID:21206993|PMID:22729463|PMID:24033266|PMID:24997227|PMID:25741868|PMID:28492532|PMID:8896568|PMID:8896569|PMID:8968758|PMID:9215674|PMID:9359036|PMID:9497256 11767157 GDNF glial cell derived neurotrophic factor gene DOID:10487 Hirschsprung's disease susceptibility ISO RGD:735823 D RGD:7240710 20190502 OMIM 11767157 GDNF glial cell derived neurotrophic factor gene DOID:10652 Alzheimer's disease ISO RGD:735823 D RGD:9068941 20200609 RGD mRNA, protein:alternate form, decreased expression:brain PMID:22081608|REF_RGD_ID:5688777 11767157 GDNF glial cell derived neurotrophic factor gene DOID:11446 sciatic neuropathy ISO RGD:2677 D RGD:9068941 20200609 RGD mRNA:increased expression:sciatic nerve PMID:10852218|REF_RGD_ID:6218977 11767157 GDNF glial cell derived neurotrophic factor gene DOID:12689 acoustic neuroma ISO RGD:735823 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral nerve: PMID:19937367|REF_RGD_ID:8655552 11767157 GDNF glial cell derived neurotrophic factor gene DOID:12842 Guillain-Barre syndrome ISO RGD:735823 D RGD:9068941 20200609 RGD PMID:9853108|REF_RGD_ID:6218983 11767157 GDNF glial cell derived neurotrophic factor gene DOID:12858 Huntington's disease ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16943855 11767157 GDNF glial cell derived neurotrophic factor gene DOID:1289 neurodegenerative disease ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11592846 11767157 GDNF glial cell derived neurotrophic factor gene DOID:12894 Sjogren's syndrome ISO RGD:735823 D RGD:9068941 20200609 RGD PMID:9853108|REF_RGD_ID:6218983 11767157 GDNF glial cell derived neurotrophic factor gene DOID:13548 secondary Parkinson disease ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19909981 11767157 GDNF glial cell derived neurotrophic factor gene DOID:14330 Parkinson's disease ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11031079|PMID:16324109 11767157 GDNF glial cell derived neurotrophic factor gene DOID:14330 Parkinson's disease ISO RGD:735823 D RGD:9068941 20200609 RGD mRNA:increased expression:putamen PMID:16644101|REF_RGD_ID:6218968 11767157 GDNF glial cell derived neurotrophic factor gene DOID:1793 pancreatic cancer severity ISO RGD:735823 D RGD:9068941 20200609 RGD PMID:18652760|REF_RGD_ID:2324925 11767157 GDNF glial cell derived neurotrophic factor gene DOID:1824 status epilepticus ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12914250|PMID:7854063 11767157 GDNF glial cell derived neurotrophic factor gene DOID:1826 epilepsy ISO RGD:735823 D RGD:9068941 20200609 RGD PMID:19162016|REF_RGD_ID:6218965 11767157 GDNF glial cell derived neurotrophic factor gene DOID:3049 Churg-Strauss syndrome ISO RGD:735823 D RGD:9068941 20200609 RGD PMID:9853108|REF_RGD_ID:6218983 11767157 GDNF glial cell derived neurotrophic factor gene DOID:3068 glioblastoma ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19138852 11767157 GDNF glial cell derived neurotrophic factor gene DOID:3070 high grade glioma ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19138852 11767157 GDNF glial cell derived neurotrophic factor gene DOID:3181 oligodendroglioma ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19138852 11767157 GDNF glial cell derived neurotrophic factor gene DOID:332 amyotrophic lateral sclerosis ISO RGD:735823 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:10447463|REF_RGD_ID:6218978 11767157 GDNF glial cell derived neurotrophic factor gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2677 D RGD:9068941 20210122 RGD PMID:29497380|REF_RGD_ID:40925919 11767157 GDNF glial cell derived neurotrophic factor gene DOID:4752 multiple system atrophy ISO RGD:10631 D RGD:9068941 20200609 RGD PMID:22281106|REF_RGD_ID:5688775 11767157 GDNF glial cell derived neurotrophic factor gene DOID:630 genetic disease ISO RGD:735823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11767157 GDNF glial cell derived neurotrophic factor gene DOID:670 amphetamine abuse ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17356005 11767157 GDNF glial cell derived neurotrophic factor gene DOID:8466 retinal degeneration ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17935603 11767157 GDNF glial cell derived neurotrophic factor gene DOID:9000039 Spinal Cord Injuries ISO RGD:10631 D RGD:9068941 20200609 RGD PMID:22342994|REF_RGD_ID:5688774 11767157 GDNF glial cell derived neurotrophic factor gene DOID:9000998 Brain Injuries ISO RGD:2677 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:18501516|REF_RGD_ID:2324932 11767157 GDNF glial cell derived neurotrophic factor gene DOID:9002211 Hyperalgesia ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20457222 11767157 GDNF glial cell derived neurotrophic factor gene DOID:9003814 Neurologic Manifestations ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19894114 11767157 GDNF glial cell derived neurotrophic factor gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:10631 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:15950786|REF_RGD_ID:8657070 11767157 GDNF glial cell derived neurotrophic factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11767157 GDNF glial cell derived neurotrophic factor gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14622243|PMID:15899247 11767157 GDNF glial cell derived neurotrophic factor gene DOID:9005834 Ependymomas ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19138852 11767157 GDNF glial cell derived neurotrophic factor gene DOID:9008091 Optic Nerve Injuries ISO RGD:2677 D RGD:9068941 20200609 RGD PMID:15144875|REF_RGD_ID:6218970 11767157 GDNF glial cell derived neurotrophic factor gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11168568 11767157 GDNF glial cell derived neurotrophic factor gene DOID:9810 polyarteritis nodosa ISO RGD:735823 D RGD:9068941 20200609 RGD PMID:9853108|REF_RGD_ID:6218983 11767172 EFNB1 ephrin B1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:737327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11767172 EFNB1 ephrin B1 gene DOID:0081044 frontonasal dysplasia ISO RGD:737327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15166289 11767172 EFNB1 ephrin B1 gene DOID:10534 stomach cancer disease_progression ISO RGD:737327 D RGD:9068941 20220811 RGD mRNA:increased expression:stomach (human) PMID:12136247|REF_RGD_ID:153323289 11767172 EFNB1 ephrin B1 gene DOID:12849 autistic disorder ISO RGD:737327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11767172 EFNB1 ephrin B1 gene DOID:14737 craniofrontonasal syndrome ISO RGD:737327 D RGD:7240710 20180130 OMIM 11767172 EFNB1 ephrin B1 gene DOID:14737 craniofrontonasal syndrome ISO RGD:737327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniofrontonasal syndrome PMID:1468459|PMID:15124102|PMID:15166289|PMID:15959873|PMID:16685650|PMID:18043713|PMID:18627045|PMID:20565770|PMID:23335590|PMID:25486017|PMID:25741868|PMID:26586496|PMID:27194971|PMID:28492532|PMID:31837199|PMID:6627724 11767172 EFNB1 ephrin B1 gene DOID:1934 dysostosis ISO RGD:737327 D RGD:9068941 20200609 RGD DNA:missense mutations, deletion PMID:15124102|REF_RGD_ID:1599802 11767172 EFNB1 ephrin B1 gene DOID:2340 craniosynostosis ISO RGD:737327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15166289 11767172 EFNB1 ephrin B1 gene DOID:630 genetic disease ISO RGD:737327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11780069|PMID:15166289|PMID:15959873|PMID:16685650|PMID:18627045|PMID:27884935|PMID:31862858 11767172 EFNB1 ephrin B1 gene DOID:9003133 Hypertelorism ISO RGD:737327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15166289 11767172 EFNB1 ephrin B1 gene DOID:9005372 Inflammation ISO RGD:737327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24098442 11767172 EFNB1 ephrin B1 gene DOID:9970 obesity ISO RGD:737327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24098442 11767181 SLCO4C1 solute carrier organic anion transporter family member 4C1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1354473 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11767181 SLCO4C1 solute carrier organic anion transporter family member 4C1 gene DOID:1074 kidney failure ISO RGD:1303048 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:14993604|REF_RGD_ID:1303977 11767181 SLCO4C1 solute carrier organic anion transporter family member 4C1 gene DOID:630 genetic disease ISO RGD:1354473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11767181 SLCO4C1 solute carrier organic anion transporter family member 4C1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11767181 SLCO4C1 solute carrier organic anion transporter family member 4C1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354473 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11767199 ATPAF1 ATP synthase mitochondrial F1 complex assembly factor 1 gene DOID:630 genetic disease ISO RGD:1313436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11767199 ATPAF1 ATP synthase mitochondrial F1 complex assembly factor 1 gene DOID:9970 obesity ISO RGD:1313436 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 11767216 MFAP5 microfibril associated protein 5 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1317391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11767216 MFAP5 microfibril associated protein 5 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1317391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11767216 MFAP5 microfibril associated protein 5 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1317391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11767216 MFAP5 microfibril associated protein 5 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1317391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11767216 MFAP5 microfibril associated protein 5 gene DOID:0111621 Temtamy syndrome ISO RGD:1317391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11767216 MFAP5 microfibril associated protein 5 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1317391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25434006|PMID:25741868 11767216 MFAP5 microfibril associated protein 5 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1317391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25434006|PMID:25741868|PMID:28492532|PMID:33824467 11767216 MFAP5 microfibril associated protein 5 gene DOID:630 genetic disease ISO RGD:1317391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11767216 MFAP5 microfibril associated protein 5 gene DOID:65 connective tissue disease ISO RGD:1317391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868 11767216 MFAP5 microfibril associated protein 5 gene DOID:9006654 Familial Thoracic Aortic Aneurysm 9 ISO RGD:1317391 D RGD:7240710 20180130 OMIM 11767216 MFAP5 microfibril associated protein 5 gene DOID:9006654 Familial Thoracic Aortic Aneurysm 9 ISO RGD:1317391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 9 PMID:25434006|PMID:25741868|PMID:28492532|PMID:33824467 11767216 MFAP5 microfibril associated protein 5 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1317391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11767243 RASGEF1B RasGEF domain family member 1B gene DOID:0080600 COVID-19 ISO RGD:1348873 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11767243 RASGEF1B RasGEF domain family member 1B gene DOID:630 genetic disease ISO RGD:1348873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11767243 RASGEF1B RasGEF domain family member 1B gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1348873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11767243 RASGEF1B RasGEF domain family member 1B gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1348873 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11767270 C11H11orf58 chromosome 11 C11orf58 homolog gene DOID:1059 intellectual disability ISO RGD:1605695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11767279 TCOF1 treacle ribosome biogenesis factor 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1320415 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11767279 TCOF1 treacle ribosome biogenesis factor 1 gene DOID:0080789 Treacher Collins syndrome 1 ISO RGD:1320415 D RGD:7240710 20200708 OMIM 11767279 TCOF1 treacle ribosome biogenesis factor 1 gene DOID:0080789 Treacher Collins syndrome 1 ISO RGD:1320415 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Treacher Collins syndrome 1 PMID:10982400|PMID:11013442|PMID:12114482|PMID:12444270|PMID:14598341|PMID:15150774|PMID:15214011|PMID:15340364|PMID:16199547|PMID:17576681|PMID:19050407|PMID:20003452|PMID:21951868|PMID:2231797|PMID:22317976|PMID:23967202|PMID:24108658|PMID:24994558|PMID:25741868|PMID:25790162|PMID:26467025|PMID:28065470|PMID:28419064|PMID:28492532|PMID:29230583|PMID:30311386|PMID:31307516|PMID:32257192|PMID:33332773|PMID:8563749|PMID:8894686|PMID:9042910|PMID:9096354|PMID:9536098|PMID:9736782|PMID:9811939 11767279 TCOF1 treacle ribosome biogenesis factor 1 gene DOID:10907 microcephaly ISO RGD:1320415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11767279 TCOF1 treacle ribosome biogenesis factor 1 gene DOID:2339 Crouzon syndrome ISO RGD:1320415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Crouzon syndrome PMID:25741868 11767279 TCOF1 treacle ribosome biogenesis factor 1 gene DOID:2908 Treacher Collins syndrome ISO RGD:1320415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Treacher Collins Syndrome, Dominant | ClinVar Annotator: match by term: Treacher Collins syndrome PMID:22317976|PMID:25741868|PMID:28492532|PMID:8894686 11767279 TCOF1 treacle ribosome biogenesis factor 1 gene DOID:630 genetic disease ISO RGD:1320415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11767279 TCOF1 treacle ribosome biogenesis factor 1 gene DOID:9004538 Hearing Loss ISO RGD:1320415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:28492532|PMID:30311386 11767279 TCOF1 treacle ribosome biogenesis factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320415 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11767279 TCOF1 treacle ribosome biogenesis factor 1 gene DOID:9008003 Mandibulofacial Dysostosis ISO RGD:1320415 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16938878 11767279 TCOF1 treacle ribosome biogenesis factor 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320415 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16938878 11767310 CAMLG calcium modulating ligand gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347931 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11767310 CAMLG calcium modulating ligand gene DOID:630 genetic disease ISO RGD:1347931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11767310 CAMLG calcium modulating ligand gene DOID:8692 myeloid leukemia ISO RGD:1347931 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow (human) PMID:12031912|REF_RGD_ID:2316229 11767310 CAMLG calcium modulating ligand gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11767310 CAMLG calcium modulating ligand gene DOID:9004511 Congenital Disorder of Glycosylation Type IIz ISO RGD:1347931 D RGD:7240710 20230125 OMIM 11767310 CAMLG calcium modulating ligand gene DOID:9004511 Congenital Disorder of Glycosylation Type IIz ISO RGD:1347931 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIz PMID:35262690 11767310 CAMLG calcium modulating ligand gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347931 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11767318 GABRP gamma-aminobutyric acid type A receptor subunit pi gene DOID:630 genetic disease ISO RGD:737032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11767336 TRPC4AP transient receptor potential cation channel subfamily C member 4 associated protein gene DOID:2843 long QT syndrome ISO RGD:1320513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome PMID:28492532 11767336 TRPC4AP transient receptor potential cation channel subfamily C member 4 associated protein gene DOID:630 genetic disease ISO RGD:1320513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11767369 PLAAT1 phospholipase A and acyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:1319850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11767369 PLAAT1 phospholipase A and acyltransferase 1 gene DOID:630 genetic disease ISO RGD:1319850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11767382 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:0050690 brachyolmia ISO RGD:736405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25669657 11767382 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:0080001 bone disease ISO RGD:736405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19344874 11767382 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome ISO RGD:736405 D RGD:7240710 20180130 OMIM 11767382 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome ISO RGD:736405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome PMID:11790802|PMID:16199547|PMID:17576681|PMID:19213025|PMID:19344874|PMID:25640679|PMID:25669657|PMID:25741868|PMID:25899461|PMID:28492532|PMID:29625025|PMID:30887145|PMID:33082559|PMID:35998423|PMID:9536098 11767382 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:0111727 geleophysic dysplasia 3 ISO RGD:736405 D RGD:7240710 20190315 OMIM 11767382 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:0111727 geleophysic dysplasia 3 ISO RGD:736405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 3 PMID:25741868|PMID:27068007|PMID:28492532|PMID:30887145|PMID:33082559 11767382 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:1059 intellectual disability ISO RGD:736405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11767382 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:13714 anodontia ISO RGD:736405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19344874|PMID:25899461 11767382 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11767382 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:2187 amelogenesis imperfecta ISO RGD:736405 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta PMID:35998423 11767382 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:2746 glycogen storage disease V ISO RGD:736405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11767382 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:3070 high grade glioma ISO RGD:736405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11767382 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:4254 osteosclerosis ISO RGD:736405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11790802|PMID:12379497 11767382 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:630 genetic disease ISO RGD:736405 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11767382 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:8398 osteoarthritis ISO RGD:736405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11790802|PMID:12379497 11767382 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:9000838 Growth Mental Deficiency Syndrome of Myhre ISO RGD:736405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heritable Thoracic Aortic Disease PMID:25741868|PMID:29625025 11767382 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:9003358 Kyphosis ISO RGD:736405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11790802 11767382 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:736405 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11767382 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:736405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 11767382 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:9006257 Growth Disorders ISO RGD:736405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19344874|PMID:25899461 11767382 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:736405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 11767382 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:736405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11790802|PMID:12379497 11767382 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:988 mitral valve prolapse ISO RGD:736405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25899461 11767422 HAUS7 HAUS augmin like complex subunit 7 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1604614 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11767422 HAUS7 HAUS augmin like complex subunit 7 gene DOID:0050476 Barth syndrome ISO RGD:1604614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11767422 HAUS7 HAUS augmin like complex subunit 7 gene DOID:0050800 creatine transporter deficiency ISO RGD:1604614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11767422 HAUS7 HAUS augmin like complex subunit 7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11767422 HAUS7 HAUS augmin like complex subunit 7 gene DOID:0112003 immunodeficiency 33 ISO RGD:1604614 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11767422 HAUS7 HAUS augmin like complex subunit 7 gene DOID:10588 adrenoleukodystrophy ISO RGD:1604614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11767422 HAUS7 HAUS augmin like complex subunit 7 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1604614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11767422 HAUS7 HAUS augmin like complex subunit 7 gene DOID:12849 autistic disorder ISO RGD:1604614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11767422 HAUS7 HAUS augmin like complex subunit 7 gene DOID:13628 favism ISO RGD:1604614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11767422 HAUS7 HAUS augmin like complex subunit 7 gene DOID:2729 dyskeratosis congenita ISO RGD:1604614 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11767422 HAUS7 HAUS augmin like complex subunit 7 gene DOID:607 paraplegia ISO RGD:1604614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11767422 HAUS7 HAUS augmin like complex subunit 7 gene DOID:630 genetic disease ISO RGD:1604614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11767422 HAUS7 HAUS augmin like complex subunit 7 gene DOID:9002720 Splenomegaly ISO RGD:1604614 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11767436 RMC1 regulator of MON1-CCZ1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1323450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 11767436 RMC1 regulator of MON1-CCZ1 gene DOID:1059 intellectual disability ISO RGD:1323450 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11767460 FRAT2 FRAT regulator of WNT signaling pathway 2 gene DOID:630 genetic disease ISO RGD:1350986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11767467 LRP2 LDL receptor related protein 2 gene DOID:0090144 Donnai-Barrow syndrome ISO RGD:68599 D RGD:7240710 20180130 OMIM 11767467 LRP2 LDL receptor related protein 2 gene DOID:0090144 Donnai-Barrow syndrome ISO RGD:68599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria | ClinVar Annotator: match by term: Donnai-Barrow syndrome PMID:12923867|PMID:16199547|PMID:17576681|PMID:17632512|PMID:18414213|PMID:20301732|PMID:20359920|PMID:23033978|PMID:24319098|PMID:24406863|PMID:24876117|PMID:25158045|PMID:25326635|PMID:25682901|PMID:25741868|PMID:26118977|PMID:26350204|PMID:26529358|PMID:28492532|PMID:29992659|PMID:30167849|PMID:32238909|PMID:33103447|PMID:34979047|PMID:8266995|PMID:9475100|PMID:9536098 11767467 LRP2 LDL receptor related protein 2 gene DOID:10003 sensorineural hearing loss ISO RGD:68599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17632512 11767467 LRP2 LDL receptor related protein 2 gene DOID:1059 intellectual disability ISO RGD:68599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25107291|PMID:25741868|PMID:26529358|PMID:28492532|PMID:30167849 11767467 LRP2 LDL receptor related protein 2 gene DOID:1059 intellectual disability ISO RGD:68599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18414213|PMID:25741868|PMID:26350204|PMID:26529358|PMID:28492532|PMID:30167849 11767467 LRP2 LDL receptor related protein 2 gene DOID:1062 Fanconi syndrome ISO RGD:68600 D RGD:9068941 20220825 MouseDO OMIM:134600 | OMIM:613388 | OMIM:615605 11767467 LRP2 LDL receptor related protein 2 gene DOID:10763 hypertension ISO RGD:68407 D RGD:9068941 20200609 RGD protein:altered localization:apical plasma membrane PMID:10919857|REF_RGD_ID:1641827 11767467 LRP2 LDL receptor related protein 2 gene DOID:10976 membranous glomerulonephritis ISO RGD:68407 D RGD:9068941 20200609 RGD mRNA:decreased expression:glomerulus PMID:10919857|REF_RGD_ID:1641827 11767467 LRP2 LDL receptor related protein 2 gene DOID:11193 syndactyly ISO RGD:68599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-syndromic syndactyly PMID:25741868|PMID:28492532 11767467 LRP2 LDL receptor related protein 2 gene DOID:11829 degenerative myopia ISO RGD:68600 D RGD:9068941 20220825 MouseDO 11767467 LRP2 LDL receptor related protein 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:68599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11767467 LRP2 LDL receptor related protein 2 gene DOID:2527 nephrosis ISO RGD:68407 D RGD:9068941 20200609 RGD mRNA:decreased expression:glomerulus PMID:10919857|REF_RGD_ID:1641827 11767467 LRP2 LDL receptor related protein 2 gene DOID:3021 acute kidney failure ISO RGD:68599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29286200 11767467 LRP2 LDL receptor related protein 2 gene DOID:5394 prolactinoma ISO RGD:68599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prolactinoma, familial PMID:17632512|PMID:25682901|PMID:25741868|PMID:28492532 11767467 LRP2 LDL receptor related protein 2 gene DOID:557 kidney disease ISO RGD:68599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17632512 11767467 LRP2 LDL receptor related protein 2 gene DOID:630 genetic disease ISO RGD:68599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:17632512|PMID:20359920|PMID:24406863|PMID:25158045|PMID:25682901|PMID:25741868|PMID:26350204|PMID:28492532|PMID:29992659|PMID:34979047|PMID:9536098 11767467 LRP2 LDL receptor related protein 2 gene DOID:7188 autoimmune thyroiditis ISO RGD:68599 D RGD:9068941 20200609 RGD PMID:10404822|REF_RGD_ID:1641847 11767467 LRP2 LDL receptor related protein 2 gene DOID:783 end stage renal disease ISO RGD:68407 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:15266031|REF_RGD_ID:1641836 11767467 LRP2 LDL receptor related protein 2 gene DOID:8501 fundus dystrophy ISO RGD:68599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28041643|PMID:28492532 11767467 LRP2 LDL receptor related protein 2 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:68407 D RGD:9068941 20200609 RGD PMID:11841627|REF_RGD_ID:1641842 11767467 LRP2 LDL receptor related protein 2 gene DOID:9001542 Albuminuria ISO RGD:68407 D RGD:9068941 20200609 RGD PMID:12121845|REF_RGD_ID:1641839 11767467 LRP2 LDL receptor related protein 2 gene DOID:9002189 High Myopia ISO RGD:68599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:17632512|PMID:25682901|PMID:25741868|PMID:28492532 11767467 LRP2 LDL receptor related protein 2 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:68599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10052453 11767467 LRP2 LDL receptor related protein 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22919386 11767467 LRP2 LDL receptor related protein 2 gene DOID:9002525 Hereditary Eye Diseases ISO RGD:68599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17632512 11767467 LRP2 LDL receptor related protein 2 gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:68599 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: DSD incomplete virilization PMID:20359920|PMID:25741868|PMID:28492532|PMID:34979047 11767467 LRP2 LDL receptor related protein 2 gene DOID:9004538 Hearing Loss ISO RGD:68599 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:28492532|PMID:30311386 11767467 LRP2 LDL receptor related protein 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:68407 D RGD:9068941 20200609 RGD protein:decreased expression:kidney, proximal convoluted tubule, apical plasma membrane PMID:11685557|REF_RGD_ID:1641843 11767467 LRP2 LDL receptor related protein 2 gene DOID:9006359 Vitamin D Deficiency ISO RGD:68599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10052453 11767467 LRP2 LDL receptor related protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:68599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 11767467 LRP2 LDL receptor related protein 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:68599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17632512 11767467 LRP2 LDL receptor related protein 2 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:68599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17632512 11767552 TERB1 telomere repeat binding bouquet formation protein 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11767552 TERB1 telomere repeat binding bouquet formation protein 1 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1605833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:33211200 11767552 TERB1 telomere repeat binding bouquet formation protein 1 gene DOID:0110255 cataract 5 multiple types ISO RGD:1605833 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 11767552 TERB1 telomere repeat binding bouquet formation protein 1 gene DOID:0112355 spermatogenic failure 60 ISO RGD:1605833 D RGD:7240710 20211222 OMIM 11767552 TERB1 telomere repeat binding bouquet formation protein 1 gene DOID:0112355 spermatogenic failure 60 ISO RGD:1605833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 60 PMID:25741868|PMID:32741963|PMID:33211200 11767552 TERB1 telomere repeat binding bouquet formation protein 1 gene DOID:14227 azoospermia ISO RGD:1605833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 11767552 TERB1 telomere repeat binding bouquet formation protein 1 gene DOID:630 genetic disease ISO RGD:1605833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11767575 LOC100986398 hydroxycarboxylic acid receptor 3 gene DOID:10825 essential hypertension ISO RGD:1348987 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 11767575 LOC100986398 hydroxycarboxylic acid receptor 3 gene DOID:1749 squamous cell carcinoma ISO RGD:1348987 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:21655214 11767575 LOC100986398 hydroxycarboxylic acid receptor 3 gene DOID:630 genetic disease ISO RGD:1348987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11767575 LOC100986398 hydroxycarboxylic acid receptor 3 gene DOID:9004464 Skin Neoplasms ISO RGD:1348987 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:21655214 11767580 MFSD13A major facilitator superfamily domain containing 13A gene DOID:630 genetic disease ISO RGD:1319594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11767615 EXOSC9 exosome component 9 gene DOID:0112323 pontocerebellar hypoplasia type 1D ISO RGD:1317344 D RGD:7240710 20190315 OMIM 11767615 EXOSC9 exosome component 9 gene DOID:0112323 pontocerebellar hypoplasia type 1D ISO RGD:1317344 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1D PMID:25741868|PMID:28492532|PMID:29727687|PMID:30125339|PMID:30690203|PMID:33040083|PMID:34782754 11767615 EXOSC9 exosome component 9 gene DOID:630 genetic disease ISO RGD:1317344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11767615 EXOSC9 exosome component 9 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1317344 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 11767615 EXOSC9 exosome component 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11767636 CDK13 cyclin dependent kinase 13 gene DOID:0060041 autism spectrum disorder ISO RGD:1322573 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:15632290|PMID:22512864|PMID:25741868|PMID:25741869|PMID:27479907|PMID:28135719|PMID:28492532|PMID:29021403|PMID:29222009 11767636 CDK13 cyclin dependent kinase 13 gene DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder ISO RGD:1322573 D RGD:7240710 20190315 OMIM 11767636 CDK13 cyclin dependent kinase 13 gene DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder ISO RGD:1322573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder PMID:15632290|PMID:22512864|PMID:25741868|PMID:25741869|PMID:27479907|PMID:28135719|PMID:28492532|PMID:28554332|PMID:28807008|PMID:29021403|PMID:29222009|PMID:29393965|PMID:30702837|PMID:30904094|PMID:31238879 11767636 CDK13 cyclin dependent kinase 13 gene DOID:10283 prostate cancer ISO RGD:1322573 D RGD:9068941 20221103 RGD mRNA,protein:increased expression:prostate: PMID:33390186|REF_RGD_ID:155641232 11767636 CDK13 cyclin dependent kinase 13 gene DOID:10286 prostate carcinoma ameliorates ISO RGD:1322573 D RGD:9068941 20221103 RGD PMID:33390186|REF_RGD_ID:155641232 11767636 CDK13 cyclin dependent kinase 13 gene DOID:1059 intellectual disability ISO RGD:1322573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11767636 CDK13 cyclin dependent kinase 13 gene DOID:13938 amenorrhea ISO RGD:1322573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11767636 CDK13 cyclin dependent kinase 13 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1322573 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:10441570|PMID:15739154|PMID:18000979|PMID:20672375|PMID:24736735|PMID:28492532|PMID:29236091 11767636 CDK13 cyclin dependent kinase 13 gene DOID:1612 breast cancer severity ISO RGD:1322573 D RGD:9068941 20221103 RGD PMID:33292020|REF_RGD_ID:155641236 11767636 CDK13 cyclin dependent kinase 13 gene DOID:1826 epilepsy ISO RGD:1322573 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11767636 CDK13 cyclin dependent kinase 13 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11767636 CDK13 cyclin dependent kinase 13 gene DOID:630 genetic disease ISO RGD:1322573 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15632290|PMID:22512864|PMID:25741868|PMID:25741869|PMID:27479907|PMID:28135719|PMID:28492532|PMID:28807008|PMID:29021403|PMID:29222009|PMID:29393965|PMID:30702837|PMID:30904094|PMID:33004838 11767636 CDK13 cyclin dependent kinase 13 gene DOID:684 hepatocellular carcinoma onset ISO RGD:1322573 D RGD:9068941 20221103 RGD DNA:amplification: : PMID:22912832|REF_RGD_ID:155641228 11767636 CDK13 cyclin dependent kinase 13 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1322573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:27479907|PMID:28135719|PMID:28492532|PMID:28807008|PMID:29021403|PMID:29222009|PMID:29393965|PMID:30702837|PMID:30904094 11767636 CDK13 cyclin dependent kinase 13 gene DOID:9008086 Developmental Disabilities ISO RGD:1322573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741891|PMID:27479907|PMID:28135719|PMID:28492532|PMID:28807008|PMID:29021403|PMID:29222009|PMID:29393965|PMID:30702837|PMID:30904094 11767656 CRADD CASP2 and RIPK1 domain containing adaptor with death domain gene DOID:0081200 autosomal recessive intellectual developmental disorder 34 ISO RGD:1322237 D RGD:7240710 20180130 OMIM 11767656 CRADD CASP2 and RIPK1 domain containing adaptor with death domain gene DOID:0081200 autosomal recessive intellectual developmental disorder 34 ISO RGD:1322237 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY PMID:22279524|PMID:25741868|PMID:27773430|PMID:30914828 11767656 CRADD CASP2 and RIPK1 domain containing adaptor with death domain gene DOID:1059 intellectual disability ISO RGD:1322237 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:27773430|PMID:30167849|PMID:30914828 11767656 CRADD CASP2 and RIPK1 domain containing adaptor with death domain gene DOID:1826 epilepsy ISO RGD:1322237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11767656 CRADD CASP2 and RIPK1 domain containing adaptor with death domain gene DOID:4450 renal cell carcinoma ISO RGD:1322237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20208132 11767656 CRADD CASP2 and RIPK1 domain containing adaptor with death domain gene DOID:630 genetic disease ISO RGD:1322237 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11767656 CRADD CASP2 and RIPK1 domain containing adaptor with death domain gene DOID:9008086 Developmental Disabilities ISO RGD:1322237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11767666 S100A2 S100 calcium binding protein A2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1353498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11767666 S100A2 S100 calcium binding protein A2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1353498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11767666 S100A2 S100 calcium binding protein A2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1353498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11767666 S100A2 S100 calcium binding protein A2 gene DOID:1540 parathyroid carcinoma ISO RGD:1353498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11767666 S100A2 S100 calcium binding protein A2 gene DOID:5812 MHC class II deficiency ISO RGD:1353498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11767666 S100A2 S100 calcium binding protein A2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11767676 TCTA T cell leukemia translocation altered gene DOID:0060852 Pierson syndrome ISO RGD:1342729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 11767676 TCTA T cell leukemia translocation altered gene DOID:630 genetic disease ISO RGD:1342729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11767676 TCTA T cell leukemia translocation altered gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1342729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11767676 TCTA T cell leukemia translocation altered gene DOID:9268 glycine encephalopathy ISO RGD:1342729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:28492532 11767683 CITED1 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11767683 CITED1 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 gene DOID:12849 autistic disorder ISO RGD:1344879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11767683 CITED1 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 gene DOID:630 genetic disease ISO RGD:1344879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11767683 CITED1 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:734446 D RGD:9068941 20221103 RGD mRNA:altered expression:kidney (mouse) PMID:18467665|REF_RGD_ID:155631277 11767693 LUZP2 leucine zipper protein 2 gene DOID:1059 intellectual disability ISO RGD:1347178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11767693 LUZP2 leucine zipper protein 2 gene DOID:630 genetic disease ISO RGD:1347178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11767713 NXPE3 neurexophilin and PC-esterase domain family member 3 gene DOID:630 genetic disease ISO RGD:1348429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11767746 ARPC5L actin related protein 2/3 complex subunit 5 like gene DOID:630 genetic disease ISO RGD:1318888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11767754 TCEAL1 transcription elongation factor A like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11767754 TCEAL1 transcription elongation factor A like 1 gene DOID:0110773 hereditary spastic paraplegia 2 ISO RGD:1352968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 PMID:10417279|PMID:16380909|PMID:18160035|PMID:19328639|PMID:28492532|PMID:9634530 11767754 TCEAL1 transcription elongation factor A like 1 gene DOID:12849 autistic disorder ISO RGD:1352968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11767754 TCEAL1 transcription elongation factor A like 1 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1352968 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:31690835|PMID:9633722|PMID:9634530 11767754 TCEAL1 transcription elongation factor A like 1 gene DOID:630 genetic disease ISO RGD:1352968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11767754 TCEAL1 transcription elongation factor A like 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1352968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11767754 TCEAL1 transcription elongation factor A like 1 gene DOID:9008698 NEURODEVELOPMENTAL DISORDER WITH GAIT DISTURBANCE, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES, X-LINKED ISO RGD:1352968 D RGD:7240710 20230505 OMIM 11767754 TCEAL1 transcription elongation factor A like 1 gene DOID:9008698 NEURODEVELOPMENTAL DISORDER WITH GAIT DISTURBANCE, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES, X-LINKED ISO RGD:1352968 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked PMID:25741868|PMID:36368327 11767776 AGA aspartylglucosaminidase gene DOID:0050461 aspartylglucosaminuria ISO RGD:1320096 D RGD:7240710 20180130 OMIM 11767776 AGA aspartylglucosaminidase gene DOID:0050461 aspartylglucosaminuria ISO RGD:1320096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aspartylglucosaminuria | ClinVar Annotator: match by term: Aspartylglucosaminuria, finnish type PMID:10399108|PMID:10571008|PMID:11309371|PMID:11754099|PMID:15365992|PMID:1559710|PMID:16199547|PMID:1703489|PMID:1722323|PMID:1756604|PMID:17576681|PMID:1765378|PMID:1879549|PMID:18992224|PMID:1904874|PMID:2011603|PMID:21228398|PMID:23271757|PMID:24033266|PMID:25456816|PMID:25525159|PMID:25741868|PMID:27876883|PMID:2811876|PMID:28492532|PMID:29247835|PMID:29930972|PMID:29993127|PMID:30564628|PMID:33439067|PMID:6883788|PMID:7627186|PMID:7881426|PMID:8064811|PMID:8172656|PMID:8457202|PMID:8702913|PMID:8776587|PMID:8830180|PMID:9137882|PMID:9536098|PMID:9737998|PMID:9742145 11767776 AGA aspartylglucosaminidase gene DOID:1059 intellectual disability ISO RGD:1320096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:11309371|PMID:1722323|PMID:18992224|PMID:25456816|PMID:25741868|PMID:28492532|PMID:9737998 11767776 AGA aspartylglucosaminidase gene DOID:3211 lysosomal storage disease susceptibility ISO RGD:1320096 D RGD:9068941 20200609 RGD PMID:1703489|REF_RGD_ID:1598773 11767776 AGA aspartylglucosaminidase gene DOID:630 genetic disease ISO RGD:1320096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11309371|PMID:1722323|PMID:25741868|PMID:28492532|PMID:29247835|PMID:7627186 11767776 AGA aspartylglucosaminidase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320096 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:11309371|PMID:1722323|PMID:18992224|PMID:25456816|PMID:25741868|PMID:28492532|PMID:9737998 11767789 ANKK1 ankyrin repeat and kinase domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1313623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11767789 ANKK1 ankyrin repeat and kinase domain containing 1 gene DOID:303 substance-related disorder ISO RGD:1313623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dopamine receptor d2, reduced brain density of PMID:10395223|PMID:11105655|PMID:15146457|PMID:15370155|PMID:15479180|PMID:18063800|PMID:18621654|PMID:18927395|PMID:9429233|PMID:9650634 11767789 ANKK1 ankyrin repeat and kinase domain containing 1 gene DOID:630 genetic disease ISO RGD:1313623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11767789 ANKK1 ankyrin repeat and kinase domain containing 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1313623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11767789 ANKK1 ankyrin repeat and kinase domain containing 1 gene DOID:93 language disorder ISO RGD:1313623 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23691092 11767801 FSD2 fibronectin type III and SPRY domain containing 2 gene DOID:13938 amenorrhea ISO RGD:1346005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11767801 FSD2 fibronectin type III and SPRY domain containing 2 gene DOID:2717 Bloom syndrome ISO RGD:1346005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11767801 FSD2 fibronectin type III and SPRY domain containing 2 gene DOID:630 genetic disease ISO RGD:1346005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11767801 FSD2 fibronectin type III and SPRY domain containing 2 gene DOID:9256 colorectal cancer ISO RGD:1346005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11767829 PEA15 proliferation and apoptosis adaptor protein 15 gene DOID:0060178 familial hemiplegic migraine ISO RGD:1314452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 11767829 PEA15 proliferation and apoptosis adaptor protein 15 gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:1314452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) PMID:28492532 11767829 PEA15 proliferation and apoptosis adaptor protein 15 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1314452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11767829 PEA15 proliferation and apoptosis adaptor protein 15 gene DOID:1540 parathyroid carcinoma ISO RGD:1314452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11767829 PEA15 proliferation and apoptosis adaptor protein 15 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11767829 PEA15 proliferation and apoptosis adaptor protein 15 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11767894 EFS embryonal Fyn-associated substrate gene DOID:0060439 lysinuric protein intolerance ISO RGD:1319047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11767894 EFS embryonal Fyn-associated substrate gene DOID:630 genetic disease ISO RGD:1319047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11767894 EFS embryonal Fyn-associated substrate gene DOID:8778 Crohn's disease ISO RGD:1319048 D RGD:9068941 20220825 MouseDO 11767894 EFS embryonal Fyn-associated substrate gene DOID:9000265 Specific Granule Deficiency ISO RGD:1319047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 11767894 EFS embryonal Fyn-associated substrate gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319047 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11767910 HERC6 HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 gene DOID:630 genetic disease ISO RGD:1348683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11767910 HERC6 HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1348683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 11767910 HERC6 HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 gene DOID:9001488 Human Influenza ISO RGD:1348683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11767943 MCCC2 methylcrotonyl-CoA carboxylase subunit 2 gene DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency ISO RGD:1352586 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency PMID:11181649|PMID:16010683|PMID:16835865|PMID:17576681|PMID:17908719|PMID:17968484|PMID:20818363|PMID:20818383|PMID:21071250|PMID:22264772|PMID:22642865|PMID:25356967|PMID:25381946|PMID:25382614|PMID:25741868|PMID:26566957|PMID:26764160|PMID:27033733|PMID:27601257|PMID:27959697|PMID:28492532|PMID:30510438|PMID:30626930|PMID:31130284|PMID:31730530|PMID:31847883|PMID:32778825|PMID:34899149|PMID:35281663|PMID:9536098 11767943 MCCC2 methylcrotonyl-CoA carboxylase subunit 2 gene DOID:0080580 3-Methylcrotonyl-CoA carboxylase 2 deficiency ISO RGD:1352586 D RGD:7240710 20180130 OMIM 11767943 MCCC2 methylcrotonyl-CoA carboxylase subunit 2 gene DOID:0080580 3-Methylcrotonyl-CoA carboxylase 2 deficiency ISO RGD:1352586 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 2 deficiency PMID:11170888|PMID:11181649|PMID:11406611|PMID:1293382|PMID:14680978|PMID:15877210|PMID:16010683|PMID:16199547|PMID:16835865|PMID:17576681|PMID:17908719|PMID:17968484|PMID:19706617|PMID:20818363|PMID:20818383|PMID:21071250|PMID:22030835|PMID:22150417|PMID:22264772|PMID:22642865|PMID:22658692|PMID:24516753|PMID:25356967|PMID:25381946|PMID:25382614|PMID:25640679|PMID:25741868|PMID:26566957|PMID:26589311|PMID:26764160|PMID:27033733|PMID:27601257|PMID:27959697|PMID:28018443|PMID:28492532|PMID:29247206|PMID:29767664|PMID:30510438|PMID:30626930|PMID:31130284|PMID:31730530|PMID:31847883|PMID:31901042|PMID:32778825|PMID:33423264|PMID:34440436|PMID:34899149|PMID:35281663|PMID:7128647|PMID:8598650|PMID:9536098|PMID:9544913 11767943 MCCC2 methylcrotonyl-CoA carboxylase subunit 2 gene DOID:630 genetic disease ISO RGD:1352586 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11181649|PMID:17908719|PMID:21071250|PMID:22264772|PMID:22642865|PMID:25356967|PMID:25741868|PMID:26566957|PMID:27033733|PMID:27601257|PMID:27959697|PMID:28492532|PMID:29247206|PMID:30510438|PMID:30626930|PMID:31130284|PMID:31847883|PMID:32778825|PMID:34440436|PMID:34899149|PMID:35281663 11767943 MCCC2 methylcrotonyl-CoA carboxylase subunit 2 gene DOID:700 mitochondrial metabolism disease ISO RGD:1352586 D RGD:9068941 20200609 RGD DNA:missense mutations, frameshift mutations:multiple (human) PMID:11170888|REF_RGD_ID:2316864 11767943 MCCC2 methylcrotonyl-CoA carboxylase subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11767965 CFHR5 complement factor H related 5 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1349013 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:16299065|PMID:17000000|PMID:19365580|PMID:24033266|PMID:25741868|PMID:28492532 11767965 CFHR5 complement factor H related 5 gene DOID:0110358 retinitis pigmentosa 12 ISO RGD:1349013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 12 PMID:10508521|PMID:17964524|PMID:22065545|PMID:23379534|PMID:25412400|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521 11767965 CFHR5 complement factor H related 5 gene DOID:13580 cholestasis ISO RGD:1349013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 11767965 CFHR5 complement factor H related 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1349013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11767965 CFHR5 complement factor H related 5 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1349013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis, type II PMID:25741868|PMID:28492532 11767965 CFHR5 complement factor H related 5 gene DOID:557 kidney disease ISO RGD:1349013 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:22622361|PMID:25741868|PMID:28492532 11767965 CFHR5 complement factor H related 5 gene DOID:630 genetic disease ISO RGD:1349013 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11767965 CFHR5 complement factor H related 5 gene DOID:784 chronic kidney disease ISO RGD:1349013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:17000000|PMID:22503529|PMID:22527104|PMID:24033266|PMID:25260719|PMID:25741868|PMID:28054583|PMID:28492532|PMID:28750028|PMID:30295827|PMID:31664448|PMID:32723786 11767965 CFHR5 complement factor H related 5 gene DOID:9008867 C3 Glomerulopathy 3 ISO RGD:1349013 D RGD:7240710 20180130 OMIM 11767965 CFHR5 complement factor H related 5 gene DOID:9008867 C3 Glomerulopathy 3 ISO RGD:1349013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II | ClinVar Annotator: match by term: CFHR5 NEPHROPATHY | ClinVar Annotator: match by term: CFHR5 deficiency PMID:16299065|PMID:17000000|PMID:19365580|PMID:20513133|PMID:20800271|PMID:22503529|PMID:22527104|PMID:22622361|PMID:24033266|PMID:25260719|PMID:25741868|PMID:28054583|PMID:28492532|PMID:28750028|PMID:30295827|PMID:31664448|PMID:32723786|PMID:32928961 11767965 CFHR5 complement factor H related 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11767979 PRPH2 peripherin 2 gene DOID:0050444 infantile Refsum disease ISO RGD:735709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11767979 PRPH2 peripherin 2 gene DOID:0050572 cone-rod dystrophy ISO RGD:735709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:10193525|PMID:10532447|PMID:11139241|PMID:11704030|PMID:14510799|PMID:14557183|PMID:15370544|PMID:15779916|PMID:16019073|PMID:16113362|PMID:16799052|PMID:16885924|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18310263|PMID:19038374|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:22183351|PMID:22466463|PMID:22863181|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25474345|PMID:25675413|PMID:25741868|PMID:25803555|PMID:26103963|PMID:26155838|PMID:26161267|PMID:26667666|PMID:26842753|PMID:27884173|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29343940|PMID:29555955|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32717343|PMID:33546218|PMID:7493155|PMID:8015786|PMID:8302543|PMID:8485576|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 11767979 PRPH2 peripherin 2 gene DOID:0050572 cone-rod dystrophy ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:10193525|PMID:10532447|PMID:11139241|PMID:11704030|PMID:14510799|PMID:14557183|PMID:15370544|PMID:15779916|PMID:16019073|PMID:16113362|PMID:16767206|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18310263|PMID:19038374|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:22183351|PMID:22466463|PMID:22863181|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25474345|PMID:25675413|PMID:25741868|PMID:25803555|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26161267|PMID:26667666|PMID:26796962|PMID:26842753|PMID:27365499|PMID:27884173|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29343940|PMID:29555955|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32717343|PMID:33546218|PMID:7493155|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 11767979 PRPH2 peripherin 2 gene DOID:0050661 vitelliform macular dystrophy ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Vitelliform dystrophy | ClinVar Annotator: match by term: Vitelliform macular dystrophy PMID:25741868|PMID:28492532|PMID:32531846 11767979 PRPH2 peripherin 2 gene DOID:0050662 bestrophinopathy ISO RGD:735709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy PMID:11139241|PMID:15370544|PMID:16113362|PMID:16799052|PMID:22466463|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25741868|PMID:28492532|PMID:28559085|PMID:32531846|PMID:33546218 11767979 PRPH2 peripherin 2 gene DOID:0050795 cone dystrophy ISO RGD:735709 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:11139263|PMID:11801511|PMID:17653047|PMID:19038374|PMID:19243827|PMID:22003107|PMID:22334370|PMID:23950152|PMID:25741868|PMID:25999674|PMID:27813578|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29155698|PMID:29555955|PMID:30215852|PMID:30718709|PMID:31456290|PMID:32531846|PMID:33546218|PMID:34906036|PMID:8644804 11767979 PRPH2 peripherin 2 gene DOID:0050817 Stargardt disease ISO RGD:735709 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 11767979 PRPH2 peripherin 2 gene DOID:0050817 Stargardt disease ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:27813578|PMID:279751|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32531846|PMID:32581362|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 11767979 PRPH2 peripherin 2 gene DOID:0050817 Stargardt disease ISO RGD:735709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:27813578|PMID:279751|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32037395|PMID:32531846|PMID:32581362|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 11767979 PRPH2 peripherin 2 gene DOID:0060745 Doyne honeycomb retinal dystrophy ISO RGD:735709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Doyne honeycomb degeneration of retina PMID:11139241|PMID:11704030|PMID:16113362|PMID:16799052|PMID:17576681|PMID:23950152|PMID:25082885|PMID:25675413|PMID:25741868|PMID:26842753|PMID:28492532|PMID:28559085|PMID:32531846|PMID:9536098 11767979 PRPH2 peripherin 2 gene DOID:0060863 patterned macular dystrophy ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Butterfly-shaped pigment dystrophy of the fovea PMID:10193525|PMID:10532447|PMID:10627133|PMID:10800708|PMID:11139241|PMID:11139263|PMID:11297544|PMID:11427722|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12925772|PMID:1427912|PMID:14510799|PMID:14557183|PMID:15370544|PMID:15779916|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16767206|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18050133|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:22003107|PMID:22183351|PMID:22334370|PMID:22466463|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23847139|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26061163|PMID:26103963|PMID:26161267|PMID:26355662|PMID:26667666|PMID:26720483|PMID:26796962|PMID:26842753|PMID:27365499|PMID:27813578|PMID:27884173|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31063015|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:7493155|PMID:7825692|PMID:7880786|PMID:8015786|PMID:8045710|PMID:8111389|PMID:8202715|PMID:8302543|PMID:8485574|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8943002|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9443872|PMID:9536098 11767979 PRPH2 peripherin 2 gene DOID:0060866 patterned macular dystrophy 1 ISO RGD:735709 D RGD:7240710 20181219 OMIM 11767979 PRPH2 peripherin 2 gene DOID:0060866 patterned macular dystrophy 1 ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Patterned macular dystrophy 1 PMID:10193525|PMID:10532447|PMID:10627133|PMID:10800708|PMID:11139241|PMID:11139263|PMID:11297544|PMID:11427722|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12925772|PMID:1427912|PMID:14510799|PMID:14557183|PMID:15370544|PMID:15779916|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16767206|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18050133|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:22003107|PMID:22183351|PMID:22334370|PMID:22466463|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23847139|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26061163|PMID:26103963|PMID:26161267|PMID:26355662|PMID:26667666|PMID:26720483|PMID:26796962|PMID:26842753|PMID:27365499|PMID:27813578|PMID:27884173|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31063015|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:34906502|PMID:7493155|PMID:7710395|PMID:7825692|PMID:7880786|PMID:8004111|PMID:8015786|PMID:8045710|PMID:8111389|PMID:8202715|PMID:8251014|PMID:8302543|PMID:8485574|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8943002|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9443872|PMID:9536098 11767979 PRPH2 peripherin 2 gene DOID:0090059 enhanced S-cone syndrome ISO RGD:735710 D RGD:9068941 20200609 RGD PMID:23650562|REF_RGD_ID:8554862 11767979 PRPH2 peripherin 2 gene DOID:0110383 retinitis pigmentosa 7 ISO RGD:735709 D RGD:7240710 20180130 OMIM 11767979 PRPH2 peripherin 2 gene DOID:0110383 retinitis pigmentosa 7 ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 18 | ClinVar Annotator: match by term: Retinitis pigmentosa 7 | ClinVar Annotator: match by term: Retinitis pigmentosa 7, digenic PMID:10193525|PMID:10532447|PMID:10800708|PMID:11139241|PMID:11297544|PMID:11427722|PMID:11853584|PMID:11934323|PMID:12925772|PMID:14510799|PMID:16019073|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17148040|PMID:17504850|PMID:17653047|PMID:19038374|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:22863181|PMID:23105016|PMID:23847139|PMID:23950152|PMID:24265693|PMID:24416769|PMID:24463884|PMID:24608669|PMID:24963162|PMID:25082885|PMID:25412400|PMID:25447119|PMID:25675413|PMID:25741868|PMID:25803555|PMID:26061163|PMID:26103963|PMID:26321861|PMID:26355662|PMID:26667666|PMID:26720483|PMID:27365499|PMID:27813578|PMID:28041643|PMID:28045043|PMID:28076437|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28838317|PMID:29186038|PMID:29276052|PMID:29343940|PMID:29453956|PMID:29555955|PMID:31054281|PMID:31213501|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32660024|PMID:33546218|PMID:7493155|PMID:7825692|PMID:7880786|PMID:7904791|PMID:8015786|PMID:8019570|PMID:8020945|PMID:8111389|PMID:8202715|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8675410|PMID:8740695|PMID:8747448|PMID:8943002|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9443872 11767979 PRPH2 peripherin 2 gene DOID:10283 prostate cancer ISO RGD:735709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11767979 PRPH2 peripherin 2 gene DOID:10584 retinitis pigmentosa ISO RGD:735709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10193525|PMID:10532447|PMID:10747861|PMID:10800708|PMID:10862101|PMID:11139241|PMID:11139263|PMID:11297544|PMID:11427722|PMID:11704030|PMID:11801511|PMID:11853584|PMID:12045052|PMID:12925772|PMID:1427912|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18050133|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22842402|PMID:22863181|PMID:23591405|PMID:23847139|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:24938718|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25494902|PMID:25675413|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26061163|PMID:26103963|PMID:26161267|PMID:26667666|PMID:26720483|PMID:26796962|PMID:26842753|PMID:27208204|PMID:27365499|PMID:27884173|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28838317|PMID:29155698|PMID:29276052|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30217183|PMID:30718709|PMID:30822235|PMID:30924848|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:7493155|PMID:7754251|PMID:8015786|PMID:8019570|PMID:8058286|PMID:8111389|PMID:8202715|PMID:8302543|PMID:8449524|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8943002|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9361310|PMID:9443872|PMID:9536098|PMID:9673478 11767979 PRPH2 peripherin 2 gene DOID:10584 retinitis pigmentosa ISO RGD:735709 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10193525|PMID:10532447|PMID:10747861|PMID:10800708|PMID:10862101|PMID:11139241|PMID:11139263|PMID:11297544|PMID:11427722|PMID:11704030|PMID:11801511|PMID:11853584|PMID:12045052|PMID:12925772|PMID:1427912|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18050133|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22842402|PMID:22863181|PMID:23591405|PMID:23847139|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:24938718|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25494902|PMID:25675413|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26061163|PMID:26103963|PMID:26161267|PMID:26667666|PMID:26720483|PMID:26796962|PMID:26842753|PMID:27208204|PMID:27365499|PMID:27884173|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28838317|PMID:29155698|PMID:29276052|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30217183|PMID:30718709|PMID:30822235|PMID:30924848|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:7493155|PMID:7754251|PMID:8015786|PMID:8019570|PMID:8058286|PMID:8111389|PMID:8202715|PMID:8302543|PMID:8449524|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8943002|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9361310|PMID:9443872|PMID:9536098|PMID:9673478 11767979 PRPH2 peripherin 2 gene DOID:10584 retinitis pigmentosa ISO RGD:735709 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10193525|PMID:10532447|PMID:10800708|PMID:10862101|PMID:11139241|PMID:11139263|PMID:11297544|PMID:11704030|PMID:11801511|PMID:11853584|PMID:12925772|PMID:1427912|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18050133|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22842402|PMID:22863181|PMID:23591405|PMID:23847139|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:24938718|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25494902|PMID:25675413|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26061163|PMID:26103963|PMID:26161267|PMID:26667666|PMID:26720483|PMID:26796962|PMID:26842753|PMID:27208204|PMID:27365499|PMID:27884173|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28838317|PMID:29155698|PMID:29276052|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30217183|PMID:30718709|PMID:30822235|PMID:30924848|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:7493155|PMID:7754251|PMID:8015786|PMID:8019570|PMID:8058286|PMID:8111389|PMID:8202715|PMID:8302543|PMID:8449524|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9361310|PMID:9443872|PMID:9536098 11767979 PRPH2 peripherin 2 gene DOID:10584 retinitis pigmentosa ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10193525|PMID:10532447|PMID:10747861|PMID:10800708|PMID:10862101|PMID:11139241|PMID:11139263|PMID:11297544|PMID:11427722|PMID:11704030|PMID:11801511|PMID:11853584|PMID:12045052|PMID:12925772|PMID:1427912|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16767206|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18050133|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22842402|PMID:22863181|PMID:23591405|PMID:23847139|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:24938718|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25494902|PMID:25675413|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26061163|PMID:26103963|PMID:26161267|PMID:26667666|PMID:26720483|PMID:26796962|PMID:26842753|PMID:27208204|PMID:27365499|PMID:27813578|PMID:27884173|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28838317|PMID:29155698|PMID:29276052|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30217183|PMID:30718709|PMID:30822235|PMID:30924848|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:33576794|PMID:33691693|PMID:34906036|PMID:7493155|PMID:7754251|PMID:8015786|PMID:8019570|PMID:8058286|PMID:8111389|PMID:8202715|PMID:8302543|PMID:8449524|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8943002|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9361310|PMID:9443872|PMID:9536098|PMID:9673478 11767979 PRPH2 peripherin 2 gene DOID:11105 fundus albipunctatus ISO RGD:735709 D RGD:7240710 20180130 OMIM 11767979 PRPH2 peripherin 2 gene DOID:11105 fundus albipunctatus ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens, autosomal dominant PMID:10627133|PMID:11139241|PMID:12042139|PMID:14510799|PMID:15579992|PMID:16767206|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17653047|PMID:17698758|PMID:18310263|PMID:19038374|PMID:20213611|PMID:21071739|PMID:22863181|PMID:24629188|PMID:25268133|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25741868|PMID:26061163|PMID:26161267|PMID:27365499|PMID:27884173|PMID:28041643|PMID:28492530|PMID:28492532|PMID:29555955|PMID:29847639|PMID:30718709|PMID:30726412|PMID:31213501|PMID:31429209|PMID:32531846|PMID:32717343|PMID:33546218|PMID:8111389|PMID:8485575|PMID:8485576|PMID:8675410|PMID:8994365|PMID:9279751|PMID:9331261 11767979 PRPH2 peripherin 2 gene DOID:1417 choroid disease ISO RGD:735709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Choroidal Dystrophy PMID:25741868|PMID:28492532|PMID:32531846 11767979 PRPH2 peripherin 2 gene DOID:14791 Leber congenital amaurosis ISO RGD:735709 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.L185P(human) PMID:23847139|REF_RGD_ID:8553209 11767979 PRPH2 peripherin 2 gene DOID:4448 macular degeneration ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular degeneration | ClinVar Annotator: match by term: Macular dystrophy PMID:10532447|PMID:10627133|PMID:12042139|PMID:16916875|PMID:17504850|PMID:17653047|PMID:19038374|PMID:19243827|PMID:21071739|PMID:22003107|PMID:22863181|PMID:25082885|PMID:25447119|PMID:25675413|PMID:25741868|PMID:26061163|PMID:27365499|PMID:279751|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29453956|PMID:29555955|PMID:29847639|PMID:30718709|PMID:30726412|PMID:31213501|PMID:31429209|PMID:31618092|PMID:32531846|PMID:32717343|PMID:33546218|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8675410|PMID:8994365|PMID:9279751|PMID:9443872 11767979 PRPH2 peripherin 2 gene DOID:5679 retinal disease ISO RGD:3549 D RGD:9068941 20200609 RGD PMID:8320859|REF_RGD_ID:8553226 11767979 PRPH2 peripherin 2 gene DOID:630 genetic disease ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:9052636 11767979 PRPH2 peripherin 2 gene DOID:8466 retinal degeneration ISO RGD:735709 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:874A>G(p.S212G)(human) PMID:18050133|REF_RGD_ID:8553215 11767979 PRPH2 peripherin 2 gene DOID:8466 retinal degeneration ISO RGD:735709 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.P210R(human) PMID:7862413|REF_RGD_ID:8553219 11767979 PRPH2 peripherin 2 gene DOID:8466 retinal degeneration ISO RGD:735709 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.S27F(human) PMID:9052636|REF_RGD_ID:8553212 11767979 PRPH2 peripherin 2 gene DOID:8466 retinal degeneration ISO RGD:735710 D RGD:9068941 20200609 RGD PMID:10888879|PMID:2918924|REF_RGD_ID:8553191|REF_RGD_ID:8553193 11767979 PRPH2 peripherin 2 gene DOID:8501 fundus dystrophy ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10532447|PMID:10627133|PMID:10800708|PMID:10862101|PMID:11139241|PMID:11139263|PMID:11297544|PMID:11427722|PMID:11704030|PMID:11801511|PMID:11853584|PMID:11934323|PMID:12042139|PMID:12045052|PMID:12566026|PMID:12925772|PMID:1427912|PMID:14510799|PMID:14557183|PMID:15370544|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16340530|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18050133|PMID:18310263|PMID:19038374|PMID:19243827|PMID:20213611|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23847139|PMID:23950152|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25390130|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25741868|PMID:25999674|PMID:26061163|PMID:26355662|PMID:26720483|PMID:26796962|PMID:26842753|PMID:27208204|PMID:27365499|PMID:27813578|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28761320|PMID:29155698|PMID:29186038|PMID:29276052|PMID:29343940|PMID:29453956|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30217183|PMID:30718709|PMID:30726412|PMID:30731082|PMID:30822235|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:32037395|PMID:32531846|PMID:32581362|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8111389|PMID:8202715|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8943002|PMID:8994365|PMID:9052636|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9443872|PMID:9536098 11767979 PRPH2 peripherin 2 gene DOID:8501 fundus dystrophy no_association ISO RGD:735709 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.E304Q,G338D(human) PMID:9690896|REF_RGD_ID:8553224 11767979 PRPH2 peripherin 2 gene DOID:9002891 Vitelliform Macular Dystrophy 2 ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Best vitelliform macular dystrophy, multifocal | ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 PMID:10193525|PMID:10532447|PMID:11139241|PMID:11485765|PMID:11704030|PMID:12045052|PMID:1427912|PMID:16019073|PMID:16113362|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18050133|PMID:19038374|PMID:19262438|PMID:20640437|PMID:21071739|PMID:22863181|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25082885|PMID:25675413|PMID:25741868|PMID:25803555|PMID:26061163|PMID:26103963|PMID:26667666|PMID:26796962|PMID:26842753|PMID:27365499|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29343940|PMID:29555955|PMID:30718709|PMID:31213501|PMID:31456290|PMID:31574917|PMID:32531846|PMID:33546218|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7862413|PMID:8015786|PMID:8045710|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9338584|PMID:9443872|PMID:9536098 11767979 PRPH2 peripherin 2 gene DOID:9003803 Retinitis Pigmentosa, Late-Onset Dominant ISO RGD:735709 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.C214S(human) PMID:8244346|REF_RGD_ID:8553240 11767979 PRPH2 peripherin 2 gene DOID:9005836 Central Areolar Choroidal Dystrophy 2 ISO RGD:735709 D RGD:7240710 20180130 OMIM 11767979 PRPH2 peripherin 2 gene DOID:9005836 Central Areolar Choroidal Dystrophy 2 ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Choroidal dystrophy, central areolar 2 | ClinVar Annotator: match by term: MACULAR DYSTROPHY, PROGRESSIVE PMID:10193525|PMID:10532447|PMID:11139241|PMID:11139263|PMID:11801511|PMID:14510799|PMID:14557183|PMID:16019073|PMID:16767206|PMID:16799052|PMID:16832026|PMID:16885924|PMID:17653047|PMID:17698758|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:22003107|PMID:22334370|PMID:22863181|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:25082885|PMID:25268133|PMID:25474345|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26103963|PMID:26161267|PMID:26321861|PMID:26667666|PMID:26796962|PMID:27813578|PMID:27884173|PMID:28076437|PMID:28224992|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:7493155|PMID:8015786|PMID:8302543|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872 11767979 PRPH2 peripherin 2 gene DOID:9006630 Stargardt Disease 1 ISO RGD:735709 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt disease 1 PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:279751|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 11767979 PRPH2 peripherin 2 gene DOID:9006630 Stargardt Disease 1 ISO RGD:735709 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt Disease, Recessive PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 11767979 PRPH2 peripherin 2 gene DOID:9006630 Stargardt Disease 1 ISO RGD:735709 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1 PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:27813578|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 11767979 PRPH2 peripherin 2 gene DOID:9006630 Stargardt Disease 1 ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt disease 1 PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:27813578|PMID:279751|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32531846|PMID:32581362|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 11767979 PRPH2 peripherin 2 gene DOID:9006630 Stargardt Disease 1 ISO RGD:735709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:27813578|PMID:279751|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32037395|PMID:32531846|PMID:32581362|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 11767979 PRPH2 peripherin 2 gene DOID:9007965 Vitelliform Macular Dystrophy 3 ISO RGD:735709 D RGD:7240710 20190227 OMIM 11767979 PRPH2 peripherin 2 gene DOID:9007965 Vitelliform Macular Dystrophy 3 ISO RGD:735709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adult onset vitelliform dystrophy | ClinVar Annotator: match by term: FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH OR WITHOUT CHOROIDAL NEOVASCULARIZATION | ClinVar Annotator: match by term: Macular dystrophy, vitelliform, adult-onset | ClinVar Annotator: match by term: Vitelliform macular dystrophy 3 PMID:10532447|PMID:11139241|PMID:12566026|PMID:1427912|PMID:14510799|PMID:15370544|PMID:16113362|PMID:16767206|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18050133|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:20213611|PMID:21071739|PMID:22003107|PMID:22466463|PMID:22863181|PMID:24629188|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25472526|PMID:25474345|PMID:25675413|PMID:25741868|PMID:26061163|PMID:26161267|PMID:26796962|PMID:27365499|PMID:27884173|PMID:28492530|PMID:28492532|PMID:28559085|PMID:29453956|PMID:29555955|PMID:30718709|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31618092|PMID:32531846|PMID:32717343|PMID:33546218|PMID:4142662|PMID:7519821|PMID:7862413|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8675410|PMID:8994365|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9443872|PMID:9536098 11767979 PRPH2 peripherin 2 gene DOID:905 Zellweger syndrome ISO RGD:735709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11767979 PRPH2 peripherin 2 gene DOID:980 choroidal sclerosis ISO RGD:735709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central areolar choroidal dystrophy PMID:25741868 11767979 PRPH2 peripherin 2 gene DOID:9821 Choroideremia ISO RGD:735709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive tapetochoroidal dystrophy PMID:11139241|PMID:11704030|PMID:16113362|PMID:16799052|PMID:17576681|PMID:23950152|PMID:25082885|PMID:25675413|PMID:25741868|PMID:26842753|PMID:28492532|PMID:28559085|PMID:32531846|PMID:9536098 11767993 RPF1 ribosome production factor 1 homolog gene DOID:630 genetic disease ISO RGD:1602209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768006 HFM1 helicase for meiosis 1 gene DOID:0070176 spermatogenic failure 4 ISO RGD:1606438 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 4 11768006 HFM1 helicase for meiosis 1 gene DOID:0080866 primary ovarian insufficiency 9 ISO RGD:1606438 D RGD:7240710 20180130 OMIM 11768006 HFM1 helicase for meiosis 1 gene DOID:0080866 primary ovarian insufficiency 9 ISO RGD:1606438 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 9 PMID:24597873|PMID:25741868 11768006 HFM1 helicase for meiosis 1 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1606438 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 11768006 HFM1 helicase for meiosis 1 gene DOID:14227 azoospermia ISO RGD:1606438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 11768006 HFM1 helicase for meiosis 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 11768006 HFM1 helicase for meiosis 1 gene DOID:630 genetic disease ISO RGD:1606438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768049 EGR3 early growth response 3 gene DOID:0080600 COVID-19 ISO RGD:736598 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11768049 EGR3 early growth response 3 gene DOID:630 genetic disease ISO RGD:736598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768049 EGR3 early growth response 3 gene DOID:9004866 Ataxia ISO RGD:736598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16091474 11768049 EGR3 early growth response 3 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:736598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 11768063 LOC100974927 protein DBF4 homolog B gene DOID:630 genetic disease ISO RGD:1604789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768100 CCDC87 coiled-coil domain containing 87 gene DOID:1059 intellectual disability ISO RGD:1602481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11768100 CCDC87 coiled-coil domain containing 87 gene DOID:630 genetic disease ISO RGD:1602481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768100 CCDC87 coiled-coil domain containing 87 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1602481 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11768100 CCDC87 coiled-coil domain containing 87 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1602481 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11768105 IP6K2 inositol hexakisphosphate kinase 2 gene DOID:12858 Huntington's disease ISO RGD:731328 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21652713 11768105 IP6K2 inositol hexakisphosphate kinase 2 gene DOID:630 genetic disease ISO RGD:731328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768105 IP6K2 inositol hexakisphosphate kinase 2 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:731328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11768105 IP6K2 inositol hexakisphosphate kinase 2 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:731328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11768144 FAM209A family with sequence similarity 209 member A gene DOID:630 genetic disease ISO RGD:1317211 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768158 LOC100978560 zinc finger protein 780B gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1604491 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11768158 LOC100978560 zinc finger protein 780B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1604491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11768158 LOC100978560 zinc finger protein 780B gene DOID:1342 congenital hypoplastic anemia ISO RGD:1604491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11768158 LOC100978560 zinc finger protein 780B gene DOID:2340 craniosynostosis ISO RGD:1604491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11768158 LOC100978560 zinc finger protein 780B gene DOID:630 genetic disease ISO RGD:1604491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768158 LOC100978560 zinc finger protein 780B gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1604491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11768158 LOC100978560 zinc finger protein 780B gene DOID:9269 maple syrup urine disease ISO RGD:1604491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11768158 LOC100978560 zinc finger protein 780B gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604491 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11768202 LOC100979050 olfactory receptor 52K1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1345673 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11768202 LOC100979050 olfactory receptor 52K1 gene DOID:630 genetic disease ISO RGD:1345673 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768205 ARPC1A actin related protein 2/3 complex subunit 1A gene DOID:1793 pancreatic cancer ISO RGD:1344294 D RGD:9068941 20200609 RGD DNA:amplification (human) PMID:19145645|REF_RGD_ID:2317557 11768205 ARPC1A actin related protein 2/3 complex subunit 1A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11768205 ARPC1A actin related protein 2/3 complex subunit 1A gene DOID:5419 schizophrenia ISO RGD:1344294 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex (human) PMID:15098003|REF_RGD_ID:11571619 11768205 ARPC1A actin related protein 2/3 complex subunit 1A gene DOID:630 genetic disease ISO RGD:1344294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768219 ALPK1 alpha kinase 1 gene DOID:11664 nephrosclerosis ISO RGD:1351787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27542954 11768219 ALPK1 alpha kinase 1 gene DOID:12271 aniridia ISO RGD:1351787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 11768219 ALPK1 alpha kinase 1 gene DOID:13189 gout ISO RGD:1351787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27542954 11768219 ALPK1 alpha kinase 1 gene DOID:630 genetic disease ISO RGD:1351787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11768219 ALPK1 alpha kinase 1 gene DOID:9001981 Weight Loss ISO RGD:1351787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27542954 11768219 ALPK1 alpha kinase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27542954 11768219 ALPK1 alpha kinase 1 gene DOID:9002766 Knobloch Syndrome Type I ISO RGD:1351787 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Knobloch syndrome 1 PMID:25741868 11768219 ALPK1 alpha kinase 1 gene DOID:9005477 Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome ISO RGD:1351787 D RGD:7240710 20201111 OMIM 11768219 ALPK1 alpha kinase 1 gene DOID:9005477 Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome ISO RGD:1351787 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: RETINAL DYSTROPHY, OPTIC NERVE EDEMA, SPLENOMEGALY, ANHIDROSIS, AND MIGRAINE HEADACHE SYNDROME | ClinVar Annotator: match by term: ROSAH syndrome PMID:25741868|PMID:28492532|PMID:30967659|PMID:31053777|PMID:31939038|PMID:35868845 11768219 ALPK1 alpha kinase 1 gene DOID:9351 diabetes mellitus ISO RGD:1351787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27542954 11768243 TIGD7 tigger transposable element derived 7 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1346517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11768243 TIGD7 tigger transposable element derived 7 gene DOID:1826 epilepsy ISO RGD:1346517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11768243 TIGD7 tigger transposable element derived 7 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1346517 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11768243 TIGD7 tigger transposable element derived 7 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1346517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 11768243 TIGD7 tigger transposable element derived 7 gene DOID:630 genetic disease ISO RGD:1346517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768256 GNB1L G protein subunit beta 1 like gene DOID:0060041 autism spectrum disorder ISO RGD:1322292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11768256 GNB1L G protein subunit beta 1 like gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1322292 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 11768256 GNB1L G protein subunit beta 1 like gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1322292 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 11768256 GNB1L G protein subunit beta 1 like gene DOID:0111996 immunodeficiency 51 ISO RGD:1322292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11768256 GNB1L G protein subunit beta 1 like gene DOID:1059 intellectual disability ISO RGD:1322292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11768256 GNB1L G protein subunit beta 1 like gene DOID:11198 DiGeorge syndrome ISO RGD:1322292 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 11768256 GNB1L G protein subunit beta 1 like gene DOID:11372 megacolon ISO RGD:1322292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11768256 GNB1L G protein subunit beta 1 like gene DOID:12583 velocardiofacial syndrome ISO RGD:1322292 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 11768256 GNB1L G protein subunit beta 1 like gene DOID:12849 autistic disorder ISO RGD:1322292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11768256 GNB1L G protein subunit beta 1 like gene DOID:12930 dilated cardiomyopathy ISO RGD:1322292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 11768256 GNB1L G protein subunit beta 1 like gene DOID:1826 epilepsy ISO RGD:1322292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11768256 GNB1L G protein subunit beta 1 like gene DOID:2213 hemorrhagic disease ISO RGD:1322292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 11768256 GNB1L G protein subunit beta 1 like gene DOID:5419 schizophrenia ISO RGD:1322292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11768256 GNB1L G protein subunit beta 1 like gene DOID:612 primary immunodeficiency disease ISO RGD:1322292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11768256 GNB1L G protein subunit beta 1 like gene DOID:630 genetic disease ISO RGD:1322292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768256 GNB1L G protein subunit beta 1 like gene DOID:9003871 Venous Thrombosis ISO RGD:1322292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 11768256 GNB1L G protein subunit beta 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11768256 GNB1L G protein subunit beta 1 like gene DOID:9007661 Dwarfism ISO RGD:1322292 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11768256 GNB1L G protein subunit beta 1 like gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1322292 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11768326 VDAC1 voltage dependent anion channel 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732557 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11768326 VDAC1 voltage dependent anion channel 1 gene DOID:0080600 COVID-19 ISO RGD:732557 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11768326 VDAC1 voltage dependent anion channel 1 gene DOID:0080855 Parkinsonism ISO RGD:732557 D RGD:9068941 20200609 RGD PMID:24825319|REF_RGD_ID:13504672 11768326 VDAC1 voltage dependent anion channel 1 gene DOID:10283 prostate cancer ISO RGD:732557 D RGD:9068941 20200609 RGD DNA:SNP: :rs7250897 (human) PMID:28977864|REF_RGD_ID:13504673 11768326 VDAC1 voltage dependent anion channel 1 gene DOID:11832 visual epilepsy treatment ISO RGD:621575 D RGD:9068941 20200609 RGD PMID:17893921|REF_RGD_ID:10003051 11768326 VDAC1 voltage dependent anion channel 1 gene DOID:14330 Parkinson's disease ISO RGD:732557 D RGD:9068941 20200609 RGD PMID:24825319|REF_RGD_ID:13504672 11768326 VDAC1 voltage dependent anion channel 1 gene DOID:1826 epilepsy ISO RGD:732557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17893921 11768326 VDAC1 voltage dependent anion channel 1 gene DOID:5844 myocardial infarction ISO RGD:732557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25488258 11768326 VDAC1 voltage dependent anion channel 1 gene DOID:630 genetic disease ISO RGD:732557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768326 VDAC1 voltage dependent anion channel 1 gene DOID:699 mitochondrial myopathy ISO RGD:732557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8726225 11768326 VDAC1 voltage dependent anion channel 1 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:732557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25488258 11768326 VDAC1 voltage dependent anion channel 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:732557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19634143 11768326 VDAC1 voltage dependent anion channel 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11768326 VDAC1 voltage dependent anion channel 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621575 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:19634143|REF_RGD_ID:10003054 11768326 VDAC1 voltage dependent anion channel 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732557 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11768326 VDAC1 voltage dependent anion channel 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:732557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25488258 11768326 VDAC1 voltage dependent anion channel 1 gene DOID:9008514 Psychomotor Disorders ISO RGD:732557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8726225 11768357 TCF24 transcription factor 24 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1602784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 21 PMID:28492532 11768357 TCF24 transcription factor 24 gene DOID:630 genetic disease ISO RGD:1602784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768363 PHLPP1 PH domain and leucine rich repeat protein phosphatase 1 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:731281 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11768363 PHLPP1 PH domain and leucine rich repeat protein phosphatase 1 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:731281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 11768363 PHLPP1 PH domain and leucine rich repeat protein phosphatase 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:731281 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:lower in high versus low Gleason score tumors (p<0.05 compared to at least one housekeeping gene) PMID:18336616|REF_RGD_ID:2301729 11768363 PHLPP1 PH domain and leucine rich repeat protein phosphatase 1 gene DOID:1059 intellectual disability ISO RGD:731281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11768363 PHLPP1 PH domain and leucine rich repeat protein phosphatase 1 gene DOID:630 genetic disease ISO RGD:731281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768363 PHLPP1 PH domain and leucine rich repeat protein phosphatase 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:731281 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21750348 11768384 GLDN gliomedin gene DOID:0080600 COVID-19 ISO RGD:1344164 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11768384 GLDN gliomedin gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1344164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 11768384 GLDN gliomedin gene DOID:2717 Bloom syndrome ISO RGD:1344164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11768384 GLDN gliomedin gene DOID:607 paraplegia ISO RGD:1344164 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 11768384 GLDN gliomedin gene DOID:630 genetic disease ISO RGD:1344164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11768384 GLDN gliomedin gene DOID:8488 polyhydramnios ISO RGD:1344164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyhydramnios PMID:25741868|PMID:27616481|PMID:28726266|PMID:31680349 11768384 GLDN gliomedin gene DOID:9000943 Lethal Congenital Contracture Syndrome 11 ISO RGD:1344164 D RGD:7240710 20190315 OMIM 11768384 GLDN gliomedin gene DOID:9000943 Lethal Congenital Contracture Syndrome 11 ISO RGD:1344164 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 11 PMID:25741868|PMID:27616481|PMID:28726266|PMID:31680123|PMID:31680349|PMID:32860008 11768384 GLDN gliomedin gene DOID:9006836 Contracture ISO RGD:1344164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures PMID:25741868|PMID:28726266 11768384 GLDN gliomedin gene DOID:9256 colorectal cancer ISO RGD:1344164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11768401 ULBP3 UL16 binding protein 3 gene DOID:630 genetic disease ISO RGD:1353152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768401 ULBP3 UL16 binding protein 3 gene DOID:986 alopecia areata ISO RGD:1353152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20596022 11768412 PAPOLA poly(A) polymerase alpha gene DOID:630 genetic disease ISO RGD:1318583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768439 PRORP protein only RNase P catalytic subunit gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:1312913 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 PMID:28492532 11768439 PRORP protein only RNase P catalytic subunit gene DOID:0111921 spermatogenic failure 36 ISO RGD:1312913 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 36 PMID:25741868 11768439 PRORP protein only RNase P catalytic subunit gene DOID:630 genetic disease ISO RGD:1312913 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768439 PRORP protein only RNase P catalytic subunit gene DOID:9002447 Myoectodermal Gonadal Dysgenesis Syndrome ISO RGD:1312913 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy PMID:25741868 11768439 PRORP protein only RNase P catalytic subunit gene DOID:9002704 Leukoencephalopathies ISO RGD:1312913 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy 11768439 PRORP protein only RNase P catalytic subunit gene DOID:9003326 Perrault Syndrome 1 ISO RGD:1312913 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perrault syndrome 1 11768439 PRORP protein only RNase P catalytic subunit gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1312913 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11768439 PRORP protein only RNase P catalytic subunit gene DOID:9006756 Combined Oxidative Phosphorylation Deficiency 54 ISO RGD:1312913 D RGD:7240710 20220223 OMIM 11768439 PRORP protein only RNase P catalytic subunit gene DOID:9006756 Combined Oxidative Phosphorylation Deficiency 54 ISO RGD:1312913 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 54 PMID:25741868 11768439 PRORP protein only RNase P catalytic subunit gene DOID:9008086 Developmental Disabilities ISO RGD:1312913 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11768478 PHF23 PHD finger protein 23 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1601853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11768478 PHF23 PHD finger protein 23 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1601853 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11768478 PHF23 PHD finger protein 23 gene DOID:1059 intellectual disability ISO RGD:1601853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11768478 PHF23 PHD finger protein 23 gene DOID:12177 common variable immunodeficiency ISO RGD:1601853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11768478 PHF23 PHD finger protein 23 gene DOID:2729 dyskeratosis congenita ISO RGD:1601853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11768478 PHF23 PHD finger protein 23 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1601853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11768478 PHF23 PHD finger protein 23 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1601853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 11768478 PHF23 PHD finger protein 23 gene DOID:630 genetic disease ISO RGD:1601853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768489 RPS21 ribosomal protein S21 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1348628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11768489 RPS21 ribosomal protein S21 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1348628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11768489 RPS21 ribosomal protein S21 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1348628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11768489 RPS21 ribosomal protein S21 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1348628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 11768489 RPS21 ribosomal protein S21 gene DOID:630 genetic disease ISO RGD:1348628 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768489 RPS21 ribosomal protein S21 gene DOID:9000217 Stomach Neoplasms ISO RGD:1348628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11768489 RPS21 ribosomal protein S21 gene DOID:9000918 Disease Progression ISO RGD:1348628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11768504 SLC48A1 solute carrier family 48 member 1 gene DOID:630 genetic disease ISO RGD:1604345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768527 NHP2 NHP2 ribonucleoprotein gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11768527 NHP2 NHP2 ribonucleoprotein gene DOID:0070015 autosomal recessive dyskeratosis congenita 1 ISO RGD:1319777 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 PMID:18523010|PMID:20301779|PMID:25741868|PMID:28492532|PMID:31681265 11768527 NHP2 NHP2 ribonucleoprotein gene DOID:0070017 autosomal recessive dyskeratosis congenita 2 ISO RGD:1319777 D RGD:7240710 20180130 OMIM 11768527 NHP2 NHP2 ribonucleoprotein gene DOID:0070017 autosomal recessive dyskeratosis congenita 2 ISO RGD:1319777 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 2 PMID:18523010|PMID:20301779|PMID:25741868|PMID:28492532 11768527 NHP2 NHP2 ribonucleoprotein gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1319777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11768527 NHP2 NHP2 ribonucleoprotein gene DOID:0112103 Sotos syndrome 1 ISO RGD:1319777 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11768527 NHP2 NHP2 ribonucleoprotein gene DOID:2729 dyskeratosis congenita ISO RGD:1319777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:16199547|PMID:17576681|PMID:18523010|PMID:25741868|PMID:28492532|PMID:31681265|PMID:31985013|PMID:9536098 11768527 NHP2 NHP2 ribonucleoprotein gene DOID:630 genetic disease ISO RGD:1319777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31681265 11768527 NHP2 NHP2 ribonucleoprotein gene DOID:9004373 Autosomal Recessive Dyskeratosis Congenita ISO RGD:1319777 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11768541 CFAP73 cilia and flagella associated protein 73 gene DOID:1059 intellectual disability ISO RGD:2311614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11768541 CFAP73 cilia and flagella associated protein 73 gene DOID:630 genetic disease ISO RGD:2311614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768551 ALX4 ALX homeobox 4 gene DOID:0060285 parietal foramina ISO RGD:1320963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cranium bifidum occultum 11768551 ALX4 ALX homeobox 4 gene DOID:0081044 frontonasal dysplasia ISO RGD:1320963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11768551 ALX4 ALX homeobox 4 gene DOID:0081046 frontonasal dysplasia 2 ISO RGD:1320963 D RGD:7240710 20230510 OMIM 11768551 ALX4 ALX homeobox 4 gene DOID:0081046 frontonasal dysplasia 2 ISO RGD:1320963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontonasal dysplasia 2 PMID:19692347|PMID:22140057|PMID:24668755|PMID:25741868|PMID:28492532 11768551 ALX4 ALX homeobox 4 gene DOID:1059 intellectual disability ISO RGD:1320963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11768551 ALX4 ALX homeobox 4 gene DOID:1148 polydactyly ISO RGD:1320963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9847249 11768551 ALX4 ALX homeobox 4 gene DOID:1324 lung cancer ISO RGD:1320963 D RGD:9068941 20221117 RGD DNA:hypermethylation:CpG_island: PMID:24037716|REF_RGD_ID:153344522 11768551 ALX4 ALX homeobox 4 gene DOID:2340 craniosynostosis ISO RGD:1320963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11768551 ALX4 ALX homeobox 4 gene DOID:3717 gastric adenocarcinoma severity ISO RGD:1320963 D RGD:9068941 20220825 RGD PMID:27895854|REF_RGD_ID:153344544 11768551 ALX4 ALX homeobox 4 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1320963 D RGD:9068941 20221117 RGD PMID:18978557|REF_RGD_ID:153350135 11768551 ALX4 ALX homeobox 4 gene DOID:4926 bronchiolo-alveolar adenocarcinoma ameliorates ISO RGD:1320963 D RGD:9068941 20221117 RGD PMID:24037716|REF_RGD_ID:153344522 11768551 ALX4 ALX homeobox 4 gene DOID:4992 optic nerve glioma ISO RGD:1320963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic nerve glioma PMID:25741868 11768551 ALX4 ALX homeobox 4 gene DOID:630 genetic disease ISO RGD:1320963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19692347|PMID:25741868|PMID:28492532 11768551 ALX4 ALX homeobox 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1310201 D RGD:9068941 20220818 RGD mRNA, protein:decreased expression:liver PMID:31132711|REF_RGD_ID:153323330 11768551 ALX4 ALX homeobox 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1320963 D RGD:9068941 20220818 RGD mRNA, protein:decreased expression:liver PMID:28081728|REF_RGD_ID:153323329 11768551 ALX4 ALX homeobox 4 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1320963 D RGD:9068941 20220818 RGD PMID:31132711|REF_RGD_ID:153323330 11768551 ALX4 ALX homeobox 4 gene DOID:9001441 Adenomatous Polyps severity ISO RGD:1320963 D RGD:9068941 20220825 RGD DNA:altered methylation:plasma: PMID:20140221|REF_RGD_ID:153344541 11768551 ALX4 ALX homeobox 4 gene DOID:9005172 Lung Neoplasms ISO RGD:1320963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24037716 11768551 ALX4 ALX homeobox 4 gene DOID:9005530 Craniosynostosis 5 ISO RGD:1320963 D RGD:7240710 20230510 OMIM 11768551 ALX4 ALX homeobox 4 gene DOID:9005530 Craniosynostosis 5 ISO RGD:1320963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis 5, susceptibility to PMID:22829454 11768551 ALX4 ALX homeobox 4 gene DOID:9008131 Parietal Foramina 2 ISO RGD:1320963 D RGD:7240710 20230510 OMIM 11768551 ALX4 ALX homeobox 4 gene DOID:9008131 Parietal Foramina 2 ISO RGD:1320963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parietal foramina 2 PMID:11106354|PMID:11137991|PMID:16319823|PMID:22829454|PMID:24764194|PMID:25741868|PMID:28492532 11768551 ALX4 ALX homeobox 4 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9847249 11768551 ALX4 ALX homeobox 4 gene DOID:9256 colorectal cancer ISO RGD:1320963 D RGD:9068941 20220819 RGD DNA:hypermethylation:serum: PMID:17101318|PMID:26918234|REF_RGD_ID:153323327|REF_RGD_ID:153344524 11768557 EXOC3L2 exocyst complex component 3 like 2 gene DOID:0050778 Meckel syndrome ISO RGD:1605316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome 11768557 EXOC3L2 exocyst complex component 3 like 2 gene DOID:630 genetic disease ISO RGD:1605316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11768569 WDCP WD repeat and coiled coil containing gene DOID:630 genetic disease ISO RGD:1601962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768577 BRI3 brain protein I3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11768577 BRI3 brain protein I3 gene DOID:630 genetic disease ISO RGD:1319388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768584 TBC1D19 TBC1 domain family member 19 gene DOID:630 genetic disease ISO RGD:1343247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768650 RAPGEF5 Rap guanine nucleotide exchange factor 5 gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:1343059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 11768650 RAPGEF5 Rap guanine nucleotide exchange factor 5 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1343059 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A 11768650 RAPGEF5 Rap guanine nucleotide exchange factor 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11768650 RAPGEF5 Rap guanine nucleotide exchange factor 5 gene DOID:630 genetic disease ISO RGD:1343059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768650 RAPGEF5 Rap guanine nucleotide exchange factor 5 gene DOID:670 amphetamine abuse ISO RGD:1343059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11768650 RAPGEF5 Rap guanine nucleotide exchange factor 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343059 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 11768679 LRRC18 leucine rich repeat containing 18 gene DOID:11372 megacolon ISO RGD:1352045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11768679 LRRC18 leucine rich repeat containing 18 gene DOID:5419 schizophrenia ISO RGD:1352045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11768679 LRRC18 leucine rich repeat containing 18 gene DOID:630 genetic disease ISO RGD:1352045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768688 FBP2 fructose-bisphosphatase 2 gene DOID:12642 hiatus hernia ISO RGD:732425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hiatus hernia 11768688 FBP2 fructose-bisphosphatase 2 gene DOID:630 genetic disease ISO RGD:732425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768688 FBP2 fructose-bisphosphatase 2 gene DOID:9004590 Acute Liver Failure ISO RGD:732425 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 11768688 FBP2 fructose-bisphosphatase 2 gene DOID:9005894 Childhood-Onset Remitting Leukodystrophy ISO RGD:732425 D RGD:7240710 20220518 OMIM 11768688 FBP2 fructose-bisphosphatase 2 gene DOID:9005894 Childhood-Onset Remitting Leukodystrophy ISO RGD:732425 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukodystrophy, childhood-onset, remitting PMID:33977262 11768699 ZFYVE1 zinc finger FYVE-type containing 1 gene DOID:1059 intellectual disability ISO RGD:1317194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11768699 ZFYVE1 zinc finger FYVE-type containing 1 gene DOID:630 genetic disease ISO RGD:1317194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768724 LRGUK leucine rich repeats and guanylate kinase domain containing gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11768724 LRGUK leucine rich repeats and guanylate kinase domain containing gene DOID:630 genetic disease ISO RGD:1603904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768748 HMGN2 high mobility group nucleosomal binding domain 2 gene DOID:0110120 Axenfeld-Rieger syndrome type 1 ISO RGD:1550392 D RGD:9068941 20220825 MouseDO OMIM:180500 11768748 HMGN2 high mobility group nucleosomal binding domain 2 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1350424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 11768758 SLITRK5 SLIT and NTRK like family member 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1322151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11768758 SLITRK5 SLIT and NTRK like family member 5 gene DOID:10933 obsessive-compulsive disorder ISO RGD:1322151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20418887 11768758 SLITRK5 SLIT and NTRK like family member 5 gene DOID:5419 schizophrenia ISO RGD:1322151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11768758 SLITRK5 SLIT and NTRK like family member 5 gene DOID:630 genetic disease ISO RGD:1322151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768764 C1QTNF7 C1q and TNF related 7 gene DOID:630 genetic disease ISO RGD:1315898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768778 PHF10 PHD finger protein 10 gene DOID:630 genetic disease ISO RGD:1313192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768794 ZNF214 zinc finger protein 214 gene DOID:630 genetic disease ISO RGD:1349128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768813 MTFP1 mitochondrial fission process 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1604816 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain (mouse) PMID:19492057|REF_RGD_ID:12880394 11768813 MTFP1 mitochondrial fission process 1 gene DOID:630 genetic disease ISO RGD:1604816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768813 MTFP1 mitochondrial fission process 1 gene DOID:769 neuroblastoma severity ISO RGD:1604816 D RGD:9068941 20200609 RGD mRNA:increased expression:neural tissue (human) PMID:27765905|REF_RGD_ID:12880392 11768829 HMGA1 high mobility group AT-hook 1 gene DOID:0050553 JMP syndrome ISO RGD:1345409 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11768829 HMGA1 high mobility group AT-hook 1 gene DOID:0060058 lymphoma ISO RGD:1553686 D RGD:9068941 20220825 MouseDO 11768829 HMGA1 high mobility group AT-hook 1 gene DOID:1967 leiomyosarcoma ISO RGD:1345409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18645019 11768829 HMGA1 high mobility group AT-hook 1 gene DOID:363 uterine cancer ISO RGD:1553686 D RGD:9068941 20220825 MouseDO 11768829 HMGA1 high mobility group AT-hook 1 gene DOID:4195 hyperglycemia ISO RGD:1345409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23512162 11768829 HMGA1 high mobility group AT-hook 1 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1553686 D RGD:9068941 20220825 MouseDO 11768829 HMGA1 high mobility group AT-hook 1 gene DOID:630 genetic disease ISO RGD:1345409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768829 HMGA1 high mobility group AT-hook 1 gene DOID:9004268 Uterine Neoplasms ISO RGD:1345409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18645019 11768829 HMGA1 high mobility group AT-hook 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:1345409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23512162 11768829 HMGA1 high mobility group AT-hook 1 gene DOID:9007692 Insulin Resistance ISO RGD:1345409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23512162 11768829 HMGA1 high mobility group AT-hook 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to PMID:15924147|PMID:21364139 11768829 HMGA1 high mobility group AT-hook 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1345409 D RGD:7240710 20230505 OMIM 11768839 LOC100974724 olfactory receptor 4D10 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1348576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11768839 LOC100974724 olfactory receptor 4D10 gene DOID:1059 intellectual disability ISO RGD:1348576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11768839 LOC100974724 olfactory receptor 4D10 gene DOID:630 genetic disease ISO RGD:1348576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768844 CD200R1L CD200 receptor 1 like gene DOID:630 genetic disease ISO RGD:1602956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768874 CEACAM7 CEA cell adhesion molecule 7 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1348231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11768874 CEACAM7 CEA cell adhesion molecule 7 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1348231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11768874 CEACAM7 CEA cell adhesion molecule 7 gene DOID:2340 craniosynostosis ISO RGD:1348231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11768874 CEACAM7 CEA cell adhesion molecule 7 gene DOID:5419 schizophrenia ISO RGD:1348231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11768874 CEACAM7 CEA cell adhesion molecule 7 gene DOID:630 genetic disease ISO RGD:1348231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768874 CEACAM7 CEA cell adhesion molecule 7 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1348231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11768874 CEACAM7 CEA cell adhesion molecule 7 gene DOID:9269 maple syrup urine disease ISO RGD:1348231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11768885 ADAMTSL4 ADAMTS like 4 gene DOID:0111148 isolated ectopia lentis ISO RGD:1351069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated ectopia lentis PMID:19200529|PMID:22736615|PMID:24033266 11768885 ADAMTSL4 ADAMTS like 4 gene DOID:0111149 autosomal recessive isolated ectopia lentis 2 ISO RGD:1351069 D RGD:7240710 20180130 OMIM 11768885 ADAMTSL4 ADAMTS like 4 gene DOID:0111149 autosomal recessive isolated ectopia lentis 2 ISO RGD:1351069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ectopia lentis 2, isolated, autosomal recessive PMID:17576681|PMID:19200529|PMID:20141359|PMID:2056446|PMID:20564469|PMID:20702823|PMID:21051722|PMID:22736615|PMID:22871183|PMID:23426735|PMID:2377351|PMID:24033266|PMID:25741868|PMID:25975359|PMID:28394649|PMID:28492532|PMID:28642162|PMID:31837199|PMID:9536098 11768885 ADAMTSL4 ADAMTS like 4 gene DOID:0111648 ectopia lentis with ectopia of pupil ISO RGD:1351069 D RGD:7240710 20180130 OMIM 11768885 ADAMTSL4 ADAMTS like 4 gene DOID:0111648 ectopia lentis with ectopia of pupil ISO RGD:1351069 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectopia lentis et pupillae PMID:2056446|PMID:20564469|PMID:20702823|PMID:21051722|PMID:22736615|PMID:22871183|PMID:23426735|PMID:24033266|PMID:24802351|PMID:25741868|PMID:25741879|PMID:25975359|PMID:26653794|PMID:28394649|PMID:28492532|PMID:28642162 11768885 ADAMTSL4 ADAMTS like 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1351069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11768885 ADAMTSL4 ADAMTS like 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1351069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11768885 ADAMTSL4 ADAMTS like 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1351069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11768885 ADAMTSL4 ADAMTS like 4 gene DOID:110 lens disease ISO RGD:1557679 D RGD:9068941 20220825 MouseDO 11768885 ADAMTSL4 ADAMTS like 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1351069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11768885 ADAMTSL4 ADAMTS like 4 gene DOID:5812 MHC class II deficiency ISO RGD:1351069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11768885 ADAMTSL4 ADAMTS like 4 gene DOID:630 genetic disease ISO RGD:1351069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11768885 ADAMTSL4 ADAMTS like 4 gene DOID:9000218 Craniosynostosis with Ectopia Lentis ISO RGD:1351069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniosynostosis with ectopia lentis PMID:17576681|PMID:2056446|PMID:20564469|PMID:20702823|PMID:21051722|PMID:22736615|PMID:22871183|PMID:24033266|PMID:25741868|PMID:25975359|PMID:28492532|PMID:28642162|PMID:9536098 11768885 ADAMTSL4 ADAMTS like 4 gene DOID:9004201 Ectopia Lentis ISO RGD:1351069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectopia lentis PMID:2056446|PMID:20564469|PMID:20702823|PMID:21051722|PMID:22736615|PMID:22871183|PMID:24033266|PMID:25741868|PMID:25975359|PMID:28492532|PMID:28642162 11768885 ADAMTSL4 ADAMTS like 4 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1351069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:31837199 11768885 ADAMTSL4 ADAMTS like 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11768911 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:0060786 hypomyelinating leukodystrophy ISO RGD:731553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy PMID:11704758|PMID:15136673|PMID:17646634|PMID:21307862|PMID:25089094|PMID:25741868|PMID:28492532|PMID:30755392 11768911 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:731553 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:11704758|PMID:12325082|PMID:12499492|PMID:12707859|PMID:14566705|PMID:14572143|PMID:14694060|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15136689|PMID:15507143|PMID:15670229|PMID:15723074|PMID:15776425|PMID:16041584|PMID:16864840|PMID:17439913|PMID:17646634|PMID:18005052|PMID:18263758|PMID:18266750|PMID:18294360|PMID:18519871|PMID:18678442|PMID:18813718|PMID:18845387|PMID:19023445|PMID:19158808|PMID:19170749|PMID:19531691|PMID:19625339|PMID:19909266|PMID:20016818|PMID:20301435|PMID:20826436|PMID:20958979|PMID:20975056|PMID:21307862|PMID:21560189|PMID:22073122|PMID:22238342|PMID:22430157|PMID:22699478|PMID:22952606|PMID:23065789|PMID:24033266|PMID:24482476|PMID:24938145|PMID:25089094|PMID:25230711|PMID:25326635|PMID:25457085|PMID:25525159|PMID:25681447|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26112719|PMID:26467025|PMID:26506339|PMID:26626314|PMID:26671108|PMID:26901872|PMID:27651498|PMID:27665184|PMID:27779215|PMID:28306143|PMID:28334938|PMID:28492532|PMID:28914269|PMID:28939701|PMID:28953922|PMID:29933199|PMID:29995139|PMID:30315562|PMID:30755392|PMID:31418856|PMID:32293553|PMID:33432707|PMID:34745209 11768911 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:731553 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11768911 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:731553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11768911 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:0111546 Currarino syndrome ISO RGD:731553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11768911 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:10579 leukodystrophy ISO RGD:731553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:11704758|PMID:15136673|PMID:17646634|PMID:21307862|PMID:25089094|PMID:25741868|PMID:28492532|PMID:30755392 11768911 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:3910 lung adenocarcinoma ISO RGD:731553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24366584 11768911 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:543 dystonia ISO RGD:731553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:11704758|PMID:15136673|PMID:17646634|PMID:21307862|PMID:25089094|PMID:25741868|PMID:28492532|PMID:30755392 11768911 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:630 genetic disease ISO RGD:731553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11704758|PMID:12707859|PMID:14993275|PMID:22699478|PMID:25089094|PMID:25326635|PMID:25741868|PMID:28492532|PMID:31418856 11768911 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:9002704 Leukoencephalopathies ISO RGD:731553 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CACH syndrome | ClinVar Annotator: match by term: CACH/VWM syndrome | ClinVar Annotator: match by term: Childhood ataxia with diffuse central nervous system hypomyelination | ClinVar Annotator: match by term: Leukoencephalopathy | ClinVar Annotator: match by term: Myelinosis centralis diffusa PMID:11704758|PMID:12325082|PMID:12499492|PMID:12707859|PMID:14566705|PMID:14572143|PMID:14694060|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15136689|PMID:15507143|PMID:15670229|PMID:15723074|PMID:15776425|PMID:16041584|PMID:16864840|PMID:17439913|PMID:17646634|PMID:18005052|PMID:18263758|PMID:18266750|PMID:18294360|PMID:18519871|PMID:18678442|PMID:18813718|PMID:18845387|PMID:19023445|PMID:19158808|PMID:19170749|PMID:19531691|PMID:19625339|PMID:19909266|PMID:20016818|PMID:20301435|PMID:20826436|PMID:20958979|PMID:20975056|PMID:21307862|PMID:21560189|PMID:22073122|PMID:22238342|PMID:22430157|PMID:22699478|PMID:22952606|PMID:23065789|PMID:24033266|PMID:24482476|PMID:24938145|PMID:25089094|PMID:25230711|PMID:25326635|PMID:25457085|PMID:25525159|PMID:25681447|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26112719|PMID:26467025|PMID:26506339|PMID:26626314|PMID:26671108|PMID:26901872|PMID:27651498|PMID:27665184|PMID:27779215|PMID:28306143|PMID:28334938|PMID:28492532|PMID:28914269|PMID:28939701|PMID:28953922|PMID:29933199|PMID:29995139|PMID:30315562|PMID:30755392|PMID:31418856|PMID:32293553|PMID:33432707|PMID:34745209 11768911 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:9004484 Sepsis ISO RGD:708380 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:gastrocnemius PMID:12376332|REF_RGD_ID:11041880 11768911 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:9005314 Leukoencephalopathy with Vanishing White Matter 5 ISO RGD:731553 D RGD:7240710 20230505 OMIM 11768911 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:9005314 Leukoencephalopathy with Vanishing White Matter 5 ISO RGD:731553 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 5 PMID:11704758|PMID:12325082|PMID:12499492|PMID:12707859|PMID:14694060|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15136689|PMID:15136690|PMID:15507143|PMID:15723074|PMID:15776425|PMID:16041584|PMID:17439913|PMID:17646634|PMID:18005052|PMID:18266750|PMID:18294360|PMID:18678442|PMID:18813718|PMID:18845387|PMID:19023445|PMID:19170749|PMID:19531691|PMID:19625339|PMID:20301435|PMID:20958979|PMID:20975056|PMID:21307862|PMID:21484434|PMID:21560189|PMID:22238342|PMID:22699478|PMID:22952606|PMID:23065789|PMID:24033266|PMID:24482476|PMID:24938145|PMID:25089094|PMID:25525159|PMID:25681447|PMID:25741868|PMID:25761052|PMID:26112719|PMID:26467025|PMID:26506339|PMID:26626314|PMID:28492532|PMID:28914269|PMID:33432707 11768911 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:9005348 Leukoencephalopathy with Vanishing White Matter 1 ISO RGD:731553 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1 PMID:11704758|PMID:12325082|PMID:12499492|PMID:12707859|PMID:14566705|PMID:14572143|PMID:14694060|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15136689|PMID:15507143|PMID:15670229|PMID:15723074|PMID:15776425|PMID:16041584|PMID:16864840|PMID:17439913|PMID:17646634|PMID:18005052|PMID:18263758|PMID:18266750|PMID:18294360|PMID:18519871|PMID:18678442|PMID:18813718|PMID:18845387|PMID:19023445|PMID:19158808|PMID:19170749|PMID:19531691|PMID:19625339|PMID:19909266|PMID:20016818|PMID:20301435|PMID:20826436|PMID:20958979|PMID:20975056|PMID:21307862|PMID:21560189|PMID:22073122|PMID:22238342|PMID:22430157|PMID:22699478|PMID:22952606|PMID:23065789|PMID:24033266|PMID:24482476|PMID:24938145|PMID:25089094|PMID:25230711|PMID:25326635|PMID:25457085|PMID:25525159|PMID:25681447|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26112719|PMID:26467025|PMID:26506339|PMID:26626314|PMID:26671108|PMID:26901872|PMID:27651498|PMID:27665184|PMID:27779215|PMID:28306143|PMID:28334938|PMID:28492532|PMID:28914269|PMID:28939701|PMID:28953922|PMID:29933199|PMID:29995139|PMID:30315562|PMID:30755392|PMID:31418856|PMID:32293553|PMID:33432707|PMID:34745209 11768911 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:9008824 Sarcopenia ISO RGD:708380 D RGD:9068941 20200609 RGD PMID:15187001|REF_RGD_ID:10395315 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:0050127 sinusitis ISO RGD:735517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18391768 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:0050866 oral squamous cell carcinoma ISO RGD:735517 D RGD:9068941 20220908 RGD protein:increased expression:saliva PMID:29199150|REF_RGD_ID:153350131 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:0050866 oral squamous cell carcinoma ISO RGD:735517 D RGD:9068941 20220915 RGD protein:decreased expression:saliva PMID:33564003|REF_RGD_ID:153350144 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:2187 D RGD:9068941 20220915 RGD PMID:27982256|REF_RGD_ID:153352323 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:2187 D RGD:9068941 20220915 RGD associated with type 2 diabetes mellitus; PMID:29608898|REF_RGD_ID:153352320 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:10283 prostate cancer ISO RGD:735517 D RGD:9068941 20220915 RGD protein:increased expression:serum PMID:11309332|REF_RGD_ID:153350158 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:10286 prostate carcinoma exacerbates ISO RGD:735517 D RGD:9068941 20220915 RGD PMID:11309332|REF_RGD_ID:153350158 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:11612 polycystic ovary syndrome ISO RGD:735517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:1826 epilepsy ISO RGD:2187 D RGD:9068941 20220915 RGD protein:decreased expression:hippocampal neuron PMID:28576733|REF_RGD_ID:153350152 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:219 colon cancer severity ISO RGD:735517 D RGD:9068941 20220909 RGD protein:increased expression:colon,serum PMID:25561225|REF_RGD_ID:153350136 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:299 adenocarcinoma ISO RGD:735517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18978557 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:3021 acute kidney failure disease_progression ISO RGD:735517 D RGD:9068941 20220915 RGD PMID:23849457|REF_RGD_ID:153350150 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:3328 temporal lobe epilepsy ISO RGD:735517 D RGD:9068941 20220915 RGD protein:decreased expression:brain neuron PMID:28576733|REF_RGD_ID:153350152 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:735517 D RGD:9068941 20220909 RGD PMID:28053542|REF_RGD_ID:153350138 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:3910 lung adenocarcinoma ISO RGD:735517 D RGD:9068941 20220909 RGD mRNA,protein:increased expression:lung PMID:17724461|REF_RGD_ID:153350134 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:5082 liver cirrhosis ISO RGD:2187 D RGD:9068941 20220908 RGD mRNA:decreased expression:liver PMID:26902423|REF_RGD_ID:153350133 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:5082 liver cirrhosis ISO RGD:735517 D RGD:9068941 20220908 RGD associated with hepatitis B;mRNA:decreased expression:liver PMID:26902423|REF_RGD_ID:153350133 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:5082 liver cirrhosis ISO RGD:735517 D RGD:9068941 20220908 RGD associated with hepatocellular carcinoma;protein:decreased expression:liver: PMID:22625427|REF_RGD_ID:153350130 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:5517 stomach carcinoma disease_progression ISO RGD:735517 D RGD:9068941 20220915 RGD PMID:23935945|REF_RGD_ID:153350143 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:630 genetic disease ISO RGD:735517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:684 hepatocellular carcinoma ISO RGD:2187 D RGD:9068941 20220908 RGD mRNA:decreased expression:liver PMID:26902423|REF_RGD_ID:153350133 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:684 hepatocellular carcinoma ISO RGD:735517 D RGD:9068941 20220908 RGD associated with hepatitis B;mRNA:decreased expression:liver PMID:26902423|REF_RGD_ID:153350133 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735517 D RGD:9068941 20220908 RGD PMID:22625427|PMID:27993894|REF_RGD_ID:153350130|REF_RGD_ID:153350132 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:7148 rheumatoid arthritis ISO RGD:2187 D RGD:9068941 20220915 RGD mRNA:decreased expression:liver PMID:18372237|REF_RGD_ID:153352318 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:784 chronic kidney disease ISO RGD:10223 D RGD:9068941 20220915 RGD protein:increased expression:white adipose tissue: PMID:23423258|REF_RGD_ID:153352319 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:784 chronic kidney disease ISO RGD:2187 D RGD:9068941 20220915 RGD protein:increased expression:white adipose tissue: PMID:23423258|REF_RGD_ID:153352319 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:784 chronic kidney disease ISO RGD:735517 D RGD:9068941 20220915 RGD protein:increased expression:plasma,white adipose tissue: PMID:23423258|REF_RGD_ID:153352319 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:9002304 Prostatic Neoplasms ISO RGD:735517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17173048 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:9003139 Cardiac Fibrosis exacerbates ISO RGD:10223 D RGD:9068941 20220915 RGD PMID:25788525|REF_RGD_ID:153350149 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:9004303 Tubulointerstitial Fibrosis exacerbates ISO RGD:10223 D RGD:9068941 20220915 RGD associated with ureteral obstruction; PMID:25788525|REF_RGD_ID:153350149 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:9004303 Tubulointerstitial Fibrosis treatment ISO RGD:10223 D RGD:9068941 20220915 RGD associated with ureteral obstruction; PMID:25788525|REF_RGD_ID:153350149 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:9004968 Yin Deficiency treatment ISO RGD:2187 D RGD:9068941 20220915 RGD PMID:29729385|REF_RGD_ID:153350148 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:9005172 Lung Neoplasms ISO RGD:735517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18978557 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:9007346 Cachexia ISO RGD:735517 D RGD:9068941 20220915 RGD associated with gastrointestinal system cancer;mRNA,protein:increased expression:subcutaneous adipose tissue: PMID:21245862|REF_RGD_ID:153350145 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:9009121 lung metastasis ameliorates ISO RGD:735517 D RGD:9068941 20220908 RGD associated with hepatocellular carcinoma; PMID:26902423|PMID:27993894|REF_RGD_ID:153350132|REF_RGD_ID:153350133 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:9256 colorectal cancer ISO RGD:735517 D RGD:9068941 20220908 RGD mRNA,protein:decreased expression:colorectum: PMID:32525817|REF_RGD_ID:153350127 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:9256 colorectal cancer ISO RGD:735517 D RGD:9068941 20220915 RGD protein:increased expression:serum PMID:29755407|REF_RGD_ID:153350147 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:9256 colorectal cancer disease_progression ISO RGD:735517 D RGD:9068941 20220909 RGD PMID:23393224|REF_RGD_ID:153350137 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:9970 obesity ISO RGD:10223 D RGD:9068941 20220915 RGD mRNA, protein:decreased expression:fat pad, liver,plasma PMID:19934249|REF_RGD_ID:153350157 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:9970 obesity ISO RGD:2187 D RGD:9068941 20220915 RGD mRNA:decreased expression:fat pad PMID:19934249|REF_RGD_ID:153350157 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:9970 obesity ISO RGD:2187 D RGD:9068941 20220915 RGD protein:decreased expression:plasma PMID:21136593|REF_RGD_ID:153350156 11768955 LOC100980965 zinc-alpha-2-glycoprotein gene DOID:9970 obesity ISO RGD:735517 D RGD:9068941 20220915 RGD associated with colorectal cancer; protein:decreased expression:subcutaneous white adipose tissue PMID:29755407|REF_RGD_ID:153350147 11768963 DERA deoxyribose-phosphate aldolase gene DOID:0080600 COVID-19 ISO RGD:1352250 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11768963 DERA deoxyribose-phosphate aldolase gene DOID:630 genetic disease ISO RGD:1352250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11768976 SPAG6 sperm associated antigen 6 gene DOID:630 genetic disease ISO RGD:1313749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11769004 TCF25 transcription factor 25 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1602223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 11769004 TCF25 transcription factor 25 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1602223 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11769004 TCF25 transcription factor 25 gene DOID:13636 Fanconi anemia ISO RGD:1602223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532|PMID:29098742|PMID:9721219 11769004 TCF25 transcription factor 25 gene DOID:630 genetic disease ISO RGD:1602223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11769004 TCF25 transcription factor 25 gene DOID:6846 familial melanoma ISO RGD:1602223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:28492532 11769029 RSAD1 radical S-adenosyl methionine domain containing 1 gene DOID:630 genetic disease ISO RGD:1347932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11769054 LOC100987557 metaxin-1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1351611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11769054 LOC100987557 metaxin-1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1351611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11769054 LOC100987557 metaxin-1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1351611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11769054 LOC100987557 metaxin-1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1351611 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11769054 LOC100987557 metaxin-1 gene DOID:1540 parathyroid carcinoma ISO RGD:1351611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11769054 LOC100987557 metaxin-1 gene DOID:5812 MHC class II deficiency ISO RGD:1351611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11769054 LOC100987557 metaxin-1 gene DOID:630 genetic disease ISO RGD:1351611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11769054 LOC100987557 metaxin-1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11769062 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0050427 xeroderma pigmentosum ISO RGD:1312517 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:15159313|PMID:15886521|PMID:16550608|PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:26453996|PMID:26884178|PMID:27356891|PMID:27528516|PMID:27607234|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29325523|PMID:29403087|PMID:29892709|PMID:30165384|PMID:31692161|PMID:32008151|PMID:32659497|PMID:32756499|PMID:34117267|PMID:8797827|PMID:9485007|PMID:9579555|PMID:9580660 11769062 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0050952 spastic ataxia ISO RGD:1312517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:23623389|PMID:25741868|PMID:28492532|PMID:9580660 11769062 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0060590 XFE progeroid syndrome ISO RGD:1312517 D RGD:7240710 20180130 OMIM 11769062 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0060590 XFE progeroid syndrome ISO RGD:1312517 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: XFE progeroid syndrome PMID:15886521|PMID:17183314|PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29403087|PMID:29892709|PMID:31692161|PMID:32008151|PMID:32659497|PMID:32756499|PMID:8797827|PMID:9579555 11769062 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0080638 B-cell acute lymphoblastic leukemia ISO RGD:1312517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B Acute Lymphoblastic Leukemia PMID:23623386|PMID:25741868 11769062 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0110848 xeroderma pigmentosum group F ISO RGD:1312517 D RGD:7240710 20180130 OMIM 11769062 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0110848 xeroderma pigmentosum group F ISO RGD:1312517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group F | ClinVar Annotator: match by term: Xeroderma pigmentosum, type F/cockayne syndrome PMID:15159313|PMID:15886521|PMID:16199547|PMID:16550608|PMID:17183314|PMID:17576681|PMID:18767034|PMID:20221251|PMID:21228398|PMID:21612988|PMID:23407396|PMID:23623386|PMID:23623389|PMID:24004570|PMID:24027083|PMID:24033266|PMID:24412486|PMID:24465539|PMID:24728327|PMID:25741868|PMID:26074087|PMID:26453996|PMID:26884178|PMID:27356891|PMID:27528516|PMID:28292785|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28878254|PMID:29105242|PMID:29325523|PMID:29403087|PMID:29892709|PMID:30165384|PMID:30658521|PMID:31692161|PMID:32008151|PMID:32034146|PMID:32487094|PMID:32659497|PMID:32756499|PMID:32868804|PMID:34117267|PMID:8797827|PMID:9485007|PMID:9536098|PMID:9579555|PMID:9580660 11769062 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0111093 Fanconi anemia complementation group Q ISO RGD:1312517 D RGD:7240710 20180130 OMIM 11769062 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0111093 Fanconi anemia complementation group Q ISO RGD:1312517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group Q PMID:15886521|PMID:16550608|PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623386|PMID:23623389|PMID:24033266|PMID:24465539|PMID:24728327|PMID:25741868|PMID:26074087|PMID:27356891|PMID:27528516|PMID:28292785|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29403087|PMID:29892709|PMID:30165384|PMID:30658521|PMID:31692161|PMID:32008151|PMID:32487094|PMID:32659497|PMID:32756499|PMID:34117267|PMID:8797827|PMID:9579555 11769062 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:10534 stomach cancer exacerbates ISO RGD:1312517 D RGD:9068941 20221006 RGD mRNA:increased expression:stomach (human) PMID:30417012|REF_RGD_ID:155260342 11769062 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:10907 microcephaly ISO RGD:1312517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:28767289 11769062 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:11054 urinary bladder cancer ISO RGD:1312517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062074 11769062 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:14184 polyneuropathy due to drug treatment ISO RGD:1312517 D RGD:9068941 20221006 RGD associated with colorectal cancer;DNA:missense mutations:CDS:p.P379S, p.E875G (rs1799802, rs1800124) (human) PMID:35135151|REF_RGD_ID:155260345 11769062 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:1793 pancreatic cancer ISO RGD:1312517 D RGD:9068941 20200609 RGD pancreatic adenocarcinoma;DNA:SNP: :rs1800067(human) PMID:18544627|REF_RGD_ID:2317223 11769062 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:2394 ovarian cancer ISO RGD:1312517 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:28492532 11769062 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:2962 Cockayne syndrome ISO RGD:1312517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progeroid nanism PMID:25741868|PMID:28492532 11769062 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:3459 breast carcinoma ISO RGD:1312517 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29403087|PMID:29892709|PMID:31692161|PMID:8797827|PMID:9579555 11769062 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:3911 progeria ISO RGD:1312517 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hutchinson-Gilford syndrome PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29403087|PMID:29892709|PMID:31692161|PMID:8797827|PMID:9579555 11769062 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:4905 pancreatic carcinoma ISO RGD:1312517 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29403087|PMID:29892709|PMID:31692161|PMID:8797827|PMID:9579555 11769062 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:574 peripheral nervous system disease ISO RGD:1312517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 11769062 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:630 genetic disease ISO RGD:1312517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15886521|PMID:24465539|PMID:24728327|PMID:25741868|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:31692161|PMID:32008151|PMID:32487094|PMID:32659497|PMID:32756499|PMID:34117267 11769062 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1312517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24036326 11769062 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1312517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19956886 11769062 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9000965 Neoplasm Metastasis ISO RGD:1312517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20372803 11769062 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9002801 Recurrence ISO RGD:1312517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062074 11769062 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9004207 Testicular Neoplasms ISO RGD:1312517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19956886 11769062 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:1560340 D RGD:9068941 20200609 RGD PMID:22228707|REF_RGD_ID:7296926 11769062 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1312517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216194|PMID:24036326 11769062 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1312517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18767034|PMID:23407396|PMID:24004570|PMID:24465539|PMID:24728327|PMID:25741868|PMID:28492532 11769062 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9007964 Arsenic Poisoning ISO RGD:1312517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12569548 11769062 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1312517 D RGD:9068941 20221006 RGD mRNA:increased expression:colorectum (human) PMID:16951227|REF_RGD_ID:155260343 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:0050860 colorectal adenoma ISO RGD:735729 D RGD:9068941 20200609 RGD PMID:8264230|REF_RGD_ID:13210753 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:0050861 colorectal adenocarcinoma ISO RGD:735729 D RGD:9068941 20200609 RGD PMID:8264230|REF_RGD_ID:13210753 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:735729 D RGD:9068941 20220825 RGD mRNA,protein:increased expression:tongue (human) PMID:26581505|REF_RGD_ID:11535375 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:0060001 withdrawal disorder ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15196791|PMID:15196794|PMID:18485423 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:1059 intellectual disability ISO RGD:735729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:10763 hypertension ISO RGD:2626 D RGD:9068941 20200609 RGD PMID:16696897|REF_RGD_ID:7242185 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:10763 hypertension ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12044476|PMID:24039778 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:11870 Pick's disease ISO RGD:735729 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex PMID:17548164|REF_RGD_ID:10047402 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:12098 trigeminal neuralgia ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:12554 hemolytic-uremic syndrome ISO RGD:10596 D RGD:9068941 20200609 RGD PMID:15632024|REF_RGD_ID:7242276 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:13619 extrahepatic cholestasis ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:1824 status epilepticus ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16696126|PMID:18587450|PMID:18988310|PMID:7984056 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:1826 epilepsy ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15973680 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:1984 rectal benign neoplasm ISO RGD:735729 D RGD:9068941 20200609 RGD PMID:21975339|REF_RGD_ID:13210759 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:2030 anxiety disorder ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16488545 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:289 endometriosis ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23284138 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:2921 glomerulonephritis ISO RGD:2626 D RGD:9068941 20200609 RGD PMID:11880336|REF_RGD_ID:7242278 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:3525 middle cerebral artery infarction ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:3602 toxic encephalopathy ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19220411 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:3744 cervical squamous cell carcinoma disease_progression ISO RGD:735729 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:15514944|REF_RGD_ID:2293757 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:4001 ovarian carcinoma ISO RGD:735729 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:6000 congestive heart failure ISO RGD:2626 D RGD:9068941 20200609 RGD PMID:15623567|REF_RGD_ID:2293777 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:630 genetic disease ISO RGD:735729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:670 amphetamine abuse ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19689456 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:684 hepatocellular carcinoma ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560|PMID:9029167 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:863 nervous system disease ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12890883 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:735729 D RGD:9068941 20200609 RGD protein: increased expression: kidney PMID:16049073|REF_RGD_ID:7242198 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9000363 Hematuria treatment ISO RGD:2626 D RGD:9068941 20200609 RGD PMID:22634839|REF_RGD_ID:7242178 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9000998 Brain Injuries ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9630518 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9002211 Hyperalgesia ISO RGD:2626 D RGD:9068941 20200609 RGD protein:increased expression:dorsal horn of spinal cord, neuron PMID:22160634|REF_RGD_ID:9999169 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9002211 Hyperalgesia ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9002362 Hyperkinesis ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18355967 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9002928 Colonic Neoplasms ISO RGD:735729 D RGD:9068941 20200609 RGD PMID:21344377|REF_RGD_ID:13210752 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9004009 Reperfusion Injury ISO RGD:2626 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:15121240|REF_RGD_ID:2293779 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9004009 Reperfusion Injury ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7922267 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9004649 Heat Stroke ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9005100 Aberrant Crypt Foci ISO RGD:2626 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:colon, epithelial cell PMID:1576709|REF_RGD_ID:13210754 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9005100 Aberrant Crypt Foci treatment ISO RGD:2626 D RGD:9068941 20200609 RGD PMID:8449605|REF_RGD_ID:13432056 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9005172 Lung Neoplasms ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16289808 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17276011|PMID:18311559|PMID:19533625 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9005873 Tongue Neoplasms ISO RGD:2626 D RGD:9068941 20200609 RGD protein:increased expression:tongue epithelium PMID:14674993|REF_RGD_ID:2293780 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9006205 Animal Disease Models ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10596 D RGD:9068941 20200609 RGD PMID:19095962|REF_RGD_ID:7242184 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8777434 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9008217 Hemorrhage ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7844257 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9008267 Fibrous Dysplasia of Bone ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7739708 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9008331 Tendon Injuries treatment ISO RGD:2626 D RGD:9068941 20200609 RGD PMID:23519232|REF_RGD_ID:10395300 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9008443 Colorectal Neoplasms treatment ISO RGD:10596 D RGD:9068941 20200609 RGD PMID:11481418|REF_RGD_ID:13210758 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9008443 Colorectal Neoplasms treatment ISO RGD:735729 D RGD:9068941 20200609 RGD PMID:9781601|REF_RGD_ID:13210756 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9008939 Breast Neoplasms ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 11769077 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9970 obesity ISO RGD:735729 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27071101 11769085 RALGPS2 Ral GEF with PH domain and SH3 binding motif 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1323046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11769085 RALGPS2 Ral GEF with PH domain and SH3 binding motif 2 gene DOID:630 genetic disease ISO RGD:1323046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11769085 RALGPS2 Ral GEF with PH domain and SH3 binding motif 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1323046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11769085 RALGPS2 Ral GEF with PH domain and SH3 binding motif 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11769120 IFNLR1 interferon lambda receptor 1 gene DOID:630 genetic disease ISO RGD:1603554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11769120 IFNLR1 interferon lambda receptor 1 gene DOID:8893 psoriasis ISO RGD:1603554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953190 11769120 IFNLR1 interferon lambda receptor 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1603554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11769135 PPL periplakin gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1313581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:28492532 11769135 PPL periplakin gene DOID:630 genetic disease ISO RGD:1313581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11769135 PPL periplakin gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11769161 SPTB spectrin beta, erythrocytic gene DOID:0110917 hereditary spherocytosis type 2 ISO RGD:1349727 D RGD:7240710 20180130 OMIM 11769161 SPTB spectrin beta, erythrocytic gene DOID:0110917 hereditary spherocytosis type 2 ISO RGD:1349727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis type 2 PMID:11703334|PMID:1391962|PMID:1498324|PMID:17576681|PMID:19538529|PMID:25525159|PMID:25741868|PMID:26830532|PMID:27292444|PMID:28102861|PMID:28492532|PMID:29572776|PMID:30198572|PMID:31122244|PMID:31126250|PMID:31602632|PMID:31807509|PMID:32436265|PMID:32641076|PMID:7883966|PMID:8667615|PMID:8844207|PMID:9536098|PMID:9714702 11769161 SPTB spectrin beta, erythrocytic gene DOID:11244 neonatal anemia ISO RGD:1349727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9005995 11769161 SPTB spectrin beta, erythrocytic gene DOID:12971 hereditary spherocytosis ISO RGD:1349727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant PMID:19538529|PMID:25741868|PMID:28492532 11769161 SPTB spectrin beta, erythrocytic gene DOID:2373 hereditary elliptocytosis ISO RGD:1349727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Elliptocytosis PMID:19538529|PMID:25741868|PMID:28492532 11769161 SPTB spectrin beta, erythrocytic gene DOID:583 hemolytic anemia ISO RGD:1349727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemolytic anemia PMID:25741868 11769161 SPTB spectrin beta, erythrocytic gene DOID:589 congenital hemolytic anemia ISO RGD:1349727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868 11769161 SPTB spectrin beta, erythrocytic gene DOID:630 genetic disease ISO RGD:1349727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11769161 SPTB spectrin beta, erythrocytic gene DOID:9000212 Hereditary Pyropoikilocytosis ISO RGD:1349727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary PMID:25741868 11769161 SPTB spectrin beta, erythrocytic gene DOID:9003801 Elliptocytosis 3 ISO RGD:1349727 D RGD:7240710 20190315 OMIM 11769161 SPTB spectrin beta, erythrocytic gene DOID:9003801 Elliptocytosis 3 ISO RGD:1349727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL | ClinVar Annotator: match by term: Elliptocytosis 3 PMID:25741868|PMID:28492532|PMID:30198572|PMID:7883966|PMID:8667615|PMID:8844207 11769214 TUBGCP2 tubulin gamma complex associated protein 2 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1320019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11769214 TUBGCP2 tubulin gamma complex associated protein 2 gene DOID:0081266 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures ISO RGD:1320019 D RGD:7240710 20200226 OMIM 11769214 TUBGCP2 tubulin gamma complex associated protein 2 gene DOID:0081266 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures ISO RGD:1320019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures PMID:25741868|PMID:31630790 11769214 TUBGCP2 tubulin gamma complex associated protein 2 gene DOID:630 genetic disease ISO RGD:1320019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11769238 RSL24D1 ribosomal L24 domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1320309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11769238 RSL24D1 ribosomal L24 domain containing 1 gene DOID:630 genetic disease ISO RGD:1320309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11769238 RSL24D1 ribosomal L24 domain containing 1 gene DOID:9256 colorectal cancer ISO RGD:1320309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11769249 ANKRD11 ankyrin repeat domain containing 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1315433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11769249 ANKRD11 ankyrin repeat domain containing 11 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1315433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 11769249 ANKRD11 ankyrin repeat domain containing 11 gene DOID:0080598 Kleefstra syndrome 2 ISO RGD:1315433 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 2 PMID:25741868 11769249 ANKRD11 ankyrin repeat domain containing 11 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1315433 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11769249 ANKRD11 ankyrin repeat domain containing 11 gene DOID:1059 intellectual disability ISO RGD:1315433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual deficiency PMID:18414213|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:27667800|PMID:28492532|PMID:32581362 11769249 ANKRD11 ankyrin repeat domain containing 11 gene DOID:1059 intellectual disability ISO RGD:1315433 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:18414213|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532|PMID:32581362 11769249 ANKRD11 ankyrin repeat domain containing 11 gene DOID:1059 intellectual disability ISO RGD:1315433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual deficiency PMID:18414213|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:27667800|PMID:28492532|PMID:30182498|PMID:32581362 11769249 ANKRD11 ankyrin repeat domain containing 11 gene DOID:11782 astigmatism ISO RGD:1315433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astigmatism 11769249 ANKRD11 ankyrin repeat domain containing 11 gene DOID:1227 neutropenia ISO RGD:1315433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neutropenia 11769249 ANKRD11 ankyrin repeat domain containing 11 gene DOID:13636 Fanconi anemia ISO RGD:1315433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 11769249 ANKRD11 ankyrin repeat domain containing 11 gene DOID:14780 KBG syndrome ISO RGD:1315433 D RGD:7240710 20180130 OMIM 11769249 ANKRD11 ankyrin repeat domain containing 11 gene DOID:14780 KBG syndrome ISO RGD:1315433 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: KBG syndrome | ClinVar Annotator: match by term: Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies PMID:15378538|PMID:15523620|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19344873|PMID:19920853|PMID:21782149|PMID:23463723|PMID:23494856|PMID:24033266|PMID:24088041|PMID:25125236|PMID:25326635|PMID:25356970|PMID:25413698|PMID:25424714|PMID:25464108|PMID:25533962|PMID:25652421|PMID:25741868|PMID:26467025|PMID:26633542|PMID:26633545|PMID:27055092|PMID:27605097|PMID:27651234|PMID:27667800|PMID:27900361|PMID:28449295|PMID:28492532|PMID:28529015|PMID:28708303|PMID:28976722|PMID:29258554|PMID:29517769|PMID:29565525|PMID:30182498|PMID:30202406|PMID:30919572|PMID:30945278|PMID:31191201|PMID:31337854|PMID:31602316|PMID:31607427|PMID:31690835|PMID:32124548|PMID:32222090|PMID:32238909|PMID:32581362|PMID:33955014|PMID:35330407|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35970914|PMID:9536098 11769249 ANKRD11 ankyrin repeat domain containing 11 gene DOID:1826 epilepsy ISO RGD:1315433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 11769249 ANKRD11 ankyrin repeat domain containing 11 gene DOID:630 genetic disease ISO RGD:1315433 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15523620|PMID:15955779|PMID:17576681|PMID:19344873|PMID:21782149|PMID:24088041|PMID:25125236|PMID:25326635|PMID:25356970|PMID:25413698|PMID:25464108|PMID:25473036|PMID:25652421|PMID:25741868|PMID:26467025|PMID:26615199|PMID:26633545|PMID:27055092|PMID:27605097|PMID:27651234|PMID:27667800|PMID:28492532|PMID:28529015|PMID:29258554|PMID:29517769|PMID:30182498|PMID:30919572|PMID:31191201|PMID:32124548|PMID:32581362|PMID:33955014|PMID:35330407|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35970914|PMID:9536098 11769249 ANKRD11 ankyrin repeat domain containing 11 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1315433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17986521 11769249 ANKRD11 ankyrin repeat domain containing 11 gene DOID:9002914 Familial Sudden Death ISO RGD:1315433 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Sudden unexplained death in childhood PMID:25413698|PMID:25741868|PMID:31191201 11769249 ANKRD11 ankyrin repeat domain containing 11 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1315433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 11769249 ANKRD11 ankyrin repeat domain containing 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11769249 ANKRD11 ankyrin repeat domain containing 11 gene DOID:9006534 Nervous System Malformations ISO RGD:1315433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:32581362 11769249 ANKRD11 ankyrin repeat domain containing 11 gene DOID:9008086 Developmental Disabilities ISO RGD:1315433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:21782149|PMID:24088041|PMID:25125236|PMID:25413698|PMID:25464108|PMID:25652421|PMID:25741868|PMID:26467025|PMID:26633545|PMID:27605097|PMID:27667800|PMID:28492532|PMID:31607427|PMID:32124548|PMID:33955014|PMID:35330407|PMID:35682590 11769249 ANKRD11 ankyrin repeat domain containing 11 gene DOID:9008582 Developmental Disease ISO RGD:1315433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11769249 ANKRD11 ankyrin repeat domain containing 11 gene DOID:9009062 Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis ISO RGD:1315433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis PMID:21782149|PMID:25741868|PMID:26467025|PMID:28492532 11769266 RHBDL3 rhomboid like 3 gene DOID:630 genetic disease ISO RGD:1352464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11769285 DBI diazepam binding inhibitor, acyl-CoA binding protein gene DOID:305 carcinoma ISO RGD:736302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11769285 DBI diazepam binding inhibitor, acyl-CoA binding protein gene DOID:630 genetic disease ISO RGD:736302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11769285 DBI diazepam binding inhibitor, acyl-CoA binding protein gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11769285 DBI diazepam binding inhibitor, acyl-CoA binding protein gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11769293 DCAF4 DDB1 and CUL4 associated factor 4 gene DOID:1059 intellectual disability ISO RGD:1314746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11769293 DCAF4 DDB1 and CUL4 associated factor 4 gene DOID:630 genetic disease ISO RGD:1314746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11769359 CKAP5 cytoskeleton associated protein 5 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1605408 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11769359 CKAP5 cytoskeleton associated protein 5 gene DOID:10283 prostate cancer ISO RGD:1605408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11769359 CKAP5 cytoskeleton associated protein 5 gene DOID:1059 intellectual disability ISO RGD:1605408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11769359 CKAP5 cytoskeleton associated protein 5 gene DOID:630 genetic disease ISO RGD:1605408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11769359 CKAP5 cytoskeleton associated protein 5 gene DOID:9003882 Chromosomal Instability ISO RGD:1605408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24976383 11769359 CKAP5 cytoskeleton associated protein 5 gene DOID:9008692 Aneuploidy ISO RGD:1605408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24976383 11769407 ELF5 E74 like ETS transcription factor 5 gene DOID:1059 intellectual disability ISO RGD:1314143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11769407 ELF5 E74 like ETS transcription factor 5 gene DOID:630 genetic disease ISO RGD:1314143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11769422 ZNF84 zinc finger protein 84 gene DOID:630 genetic disease ISO RGD:1351858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11769422 ZNF84 zinc finger protein 84 gene DOID:9256 colorectal cancer ISO RGD:1351858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:23230001|PMID:25948378|PMID:28492532|PMID:30503519 11769446 LOC100967539 interferon alpha-21 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1344688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 11769446 LOC100967539 interferon alpha-21 gene DOID:5419 schizophrenia ISO RGD:1344688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11769446 LOC100967539 interferon alpha-21 gene DOID:630 genetic disease ISO RGD:1344688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11769451 LONRF2 LON peptidase N-terminal domain and ring finger 2 gene DOID:630 genetic disease ISO RGD:1604220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11769468 DTX1 deltex E3 ubiquitin ligase 1 gene DOID:3181 oligodendroglioma ISO RGD:1353899 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 11769468 DTX1 deltex E3 ubiquitin ligase 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1353899 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 11769468 DTX1 deltex E3 ubiquitin ligase 1 gene DOID:630 genetic disease ISO RGD:1353899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11769481 ZNF398 zinc finger protein 398 gene DOID:630 genetic disease ISO RGD:1345407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11769501 SPAG16 sperm associated antigen 16 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1352269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 11769501 SPAG16 sperm associated antigen 16 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1352269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11769501 SPAG16 sperm associated antigen 16 gene DOID:630 genetic disease ISO RGD:1352269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11769501 SPAG16 sperm associated antigen 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11769521 KRT18 keratin 18 gene DOID:0060643 primary sclerosing cholangitis severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:serum (human) PMID:26195313|REF_RGD_ID:18337492 11769521 KRT18 keratin 18 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:619935 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome; protein:increased expression:liver, serum (rat) PMID:29989845|REF_RGD_ID:26884460 11769521 KRT18 keratin 18 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:30089409|REF_RGD_ID:18337482 11769521 KRT18 keratin 18 gene DOID:0080208 non-alcoholic fatty liver disease disease_progression ISO RGD:619935 D RGD:9068941 20200609 RGD protein:increased degradation:serum (rat) PMID:30149902|REF_RGD_ID:18337497 11769521 KRT18 keratin 18 gene DOID:0080208 non-alcoholic fatty liver disease disease_progression ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:30839434|REF_RGD_ID:18337481 11769521 KRT18 keratin 18 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1557581 D RGD:9068941 20220825 MouseDO 11769521 KRT18 keratin 18 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:serum (human) PMID:19333204|REF_RGD_ID:18337493 11769521 KRT18 keratin 18 gene DOID:0080547 non-alcoholic steatohepatitis severity ISO RGD:619935 D RGD:9068941 20200609 RGD protein:altered degradation:liver, serum (rat) PMID:24071521|REF_RGD_ID:27226810 11769521 KRT18 keratin 18 gene DOID:0080547 non-alcoholic steatohepatitis severity ISO RGD:735767 D RGD:9068941 20200609 RGD associated with morbid obesity;protein:increased degradation:plasma (human) PMID:18995215|REF_RGD_ID:18337495 11769521 KRT18 keratin 18 gene DOID:0080547 non-alcoholic steatohepatitis severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:plasma (human) PMID:19585618|REF_RGD_ID:18337489 11769521 KRT18 keratin 18 gene DOID:0080547 non-alcoholic steatohepatitis severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:serum (human) PMID:24630506|REF_RGD_ID:18337490 11769521 KRT18 keratin 18 gene DOID:0080547 non-alcoholic steatohepatitis severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21993925|REF_RGD_ID:18337499 11769521 KRT18 keratin 18 gene DOID:12236 primary biliary cholangitis severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:26110613|REF_RGD_ID:18337483 11769521 KRT18 keratin 18 gene DOID:3571 liver cancer severity ISO RGD:1557581 D RGD:9068941 20200609 RGD associated with fatty liver disease PMID:27689336|REF_RGD_ID:18337485 11769521 KRT18 keratin 18 gene DOID:409 liver disease severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:serum (human) PMID:17306787|REF_RGD_ID:18337488 11769521 KRT18 keratin 18 gene DOID:5082 liver cirrhosis ISO RGD:735767 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20538000 11769521 KRT18 keratin 18 gene DOID:5082 liver cirrhosis ISO RGD:735767 D RGD:9068941 20200609 RGD protein:H127L PMID:9011570|REF_RGD_ID:1624318 11769521 KRT18 keratin 18 gene DOID:5082 liver cirrhosis severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased expression: serum (human) PMID:29023872|REF_RGD_ID:18337484 11769521 KRT18 keratin 18 gene DOID:630 genetic disease ISO RGD:735767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11769521 KRT18 keratin 18 gene DOID:684 hepatocellular carcinoma ISO RGD:1557581 D RGD:9068941 20220825 MouseDO OMIM:114550 11769521 KRT18 keratin 18 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:619935 D RGD:9068941 20200609 RGD protein:increased expression:liver, plasma membrane (rat) PMID:21138630|REF_RGD_ID:27226809 11769521 KRT18 keratin 18 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735767 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15999547|PMID:17072980|PMID:18395095|PMID:25380136 11769521 KRT18 keratin 18 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:serum (human) PMID:22404726|REF_RGD_ID:18337496 11769521 KRT18 keratin 18 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased expression:liver, serum (human) PMID:23820504|REF_RGD_ID:18337500 11769521 KRT18 keratin 18 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:30839434|REF_RGD_ID:18337481 11769521 KRT18 keratin 18 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:serum (human) PMID:19333204|REF_RGD_ID:18337493 11769521 KRT18 keratin 18 gene DOID:9004590 Acute Liver Failure ISO RGD:735767 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20538000 11769521 KRT18 keratin 18 gene DOID:9004590 Acute Liver Failure ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:serum (human) PMID:17847110|REF_RGD_ID:18337491 11769521 KRT18 keratin 18 gene DOID:9005167 Cryptogenic Cirrhosis ISO RGD:735767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cirrhosis, cryptogenic PMID:12724528|PMID:9011570 11769521 KRT18 keratin 18 gene DOID:9005749 Necrosis ISO RGD:735767 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19783637 11769521 KRT18 keratin 18 gene DOID:9006550 hepatosplenic schistosomiasis disease_progression ISO RGD:1557581 D RGD:9068941 20200609 RGD protein:increased expression:serum (mouse, human) PMID:21357724|REF_RGD_ID:21406434 11769521 KRT18 keratin 18 gene DOID:9006550 hepatosplenic schistosomiasis disease_progression ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased expression:serum (mouse, human) PMID:21357724|REF_RGD_ID:21406434 11769521 KRT18 keratin 18 gene DOID:9007188 Liver Neoplasms ISO RGD:735767 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19409407|PMID:19796649 11769521 KRT18 keratin 18 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1557581 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (mouse) PMID:17340120|REF_RGD_ID:18337498 11769521 KRT18 keratin 18 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735767 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:19783637|PMID:33483742 11769521 KRT18 keratin 18 gene DOID:9007543 Familial Cirrhosis ISO RGD:735767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cirrhosis, familial | ClinVar Annotator: match by term: Cirrhosis, noncryptogenic, susceptibility to PMID:12724528|PMID:25741868|PMID:9011570 11769521 KRT18 keratin 18 gene DOID:9007543 Familial Cirrhosis susceptibility ISO RGD:735767 D RGD:7240710 20230510 OMIM 11769521 KRT18 keratin 18 gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver (human) PMID:20334631|REF_RGD_ID:18337487 11769521 KRT18 keratin 18 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:serum (human) PMID:28579343|REF_RGD_ID:18337494 11769521 KRT18 keratin 18 gene DOID:9008691 Liver Injury susceptibility ISO RGD:735767 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.D238E, p.D397E (human) PMID:24463813|REF_RGD_ID:18337486 11769521 KRT18 keratin 18 gene DOID:9008939 Breast Neoplasms ISO RGD:735767 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20061804|PMID:25330770 11769536 MICALL2 MICAL like 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1605936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 1 11769536 MICALL2 MICAL like 2 gene DOID:630 genetic disease ISO RGD:1605936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11769560 RPS6 ribosomal protein S6 gene DOID:224 transient cerebral ischemia ISO RGD:3602 D RGD:9068941 20200609 RGD PMID:26556340|REF_RGD_ID:11041643 11769560 RPS6 ribosomal protein S6 gene DOID:630 genetic disease ISO RGD:735279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11769560 RPS6 ribosomal protein S6 gene DOID:684 hepatocellular carcinoma ISO RGD:735279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 11769560 RPS6 ribosomal protein S6 gene DOID:8725 vascular dementia treatment ISO RGD:3602 D RGD:9068941 20200609 RGD PMID:25767501|REF_RGD_ID:11041644 11769560 RPS6 ribosomal protein S6 gene DOID:9000217 Stomach Neoplasms ISO RGD:735279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11769560 RPS6 ribosomal protein S6 gene DOID:9000918 Disease Progression ISO RGD:735279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11769560 RPS6 ribosomal protein S6 gene DOID:9002311 Experimental Autoimmune Myocarditis ISO RGD:3602 D RGD:9068941 20200609 RGD PMID:22014063|REF_RGD_ID:11041642 11769560 RPS6 ribosomal protein S6 gene DOID:9007874 Liver Failure ISO RGD:3602 D RGD:9068941 20200609 RGD PMID:501300|REF_RGD_ID:11040911 11769560 RPS6 ribosomal protein S6 gene DOID:9008022 Temporomandibular Joint Osteoarthritis ISO RGD:3602 D RGD:9068941 20200709 RGD PMID:31007149|REF_RGD_ID:34888237 11769560 RPS6 ribosomal protein S6 gene DOID:9008237 Hemimegalencephaly ISO RGD:735279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemimegalencephaly 11769560 RPS6 ribosomal protein S6 gene DOID:9008939 Breast Neoplasms ISO RGD:735279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20197467 11769570 NAXE NAD(P)HX epimerase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11769570 NAXE NAD(P)HX epimerase gene DOID:0111940 immunodeficiency 42 ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11769570 NAXE NAD(P)HX epimerase gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11769570 NAXE NAD(P)HX epimerase gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1312295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11769570 NAXE NAD(P)HX epimerase gene DOID:1540 parathyroid carcinoma ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11769570 NAXE NAD(P)HX epimerase gene DOID:5812 MHC class II deficiency ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11769570 NAXE NAD(P)HX epimerase gene DOID:630 genetic disease ISO RGD:1312295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11769570 NAXE NAD(P)HX epimerase gene DOID:9006901 Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy PMID:25741868|PMID:27290639|PMID:27616477|PMID:28492532|PMID:33798445 11769570 NAXE NAD(P)HX epimerase gene DOID:9008024 Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 1 ISO RGD:1312295 D RGD:7240710 20190315 OMIM 11769570 NAXE NAD(P)HX epimerase gene DOID:9008024 Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 1 ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 PMID:25741868|PMID:27290639|PMID:27616477|PMID:28492532|PMID:33798445 11769570 NAXE NAD(P)HX epimerase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11769570 NAXE NAD(P)HX epimerase gene DOID:936 brain disease ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile encephalopathy PMID:27122014 11769581 CASD1 CAS1 domain containing 1 gene DOID:0090034 myoclonic dystonia 11 ISO RGD:1603612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 11 PMID:10220438|PMID:10716258|PMID:11022010|PMID:11523564|PMID:11528394|PMID:12325078|PMID:12391338|PMID:12391355|PMID:12402271|PMID:12743249|PMID:12821748|PMID:12874409|PMID:15079037|PMID:15389977|PMID:15728306|PMID:16199547|PMID:16227522|PMID:16240355|PMID:17101905|PMID:17296918|PMID:17576681|PMID:17853490|PMID:18175340|PMID:18205193|PMID:18349702|PMID:18355305|PMID:18362280|PMID:19117362|PMID:19147379|PMID:21796726|PMID:22026499|PMID:22259621|PMID:23365103|PMID:2367709|PMID:23677909|PMID:23748201|PMID:24297365|PMID:24759409|PMID:25401298|PMID:25741868|PMID:26467025|PMID:28155872|PMID:28492532|PMID:29607243|PMID:30849405|PMID:32927286|PMID:33200041|PMID:9536098|PMID:9750929 11769581 CASD1 CAS1 domain containing 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1603612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11769581 CASD1 CAS1 domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11769581 CASD1 CAS1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1603612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11528394|PMID:12821748|PMID:15389977|PMID:15728306|PMID:17296918|PMID:17853490|PMID:18205193|PMID:23748201|PMID:24297365|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9750929 11769616 TRIP11 thyroid hormone receptor interactor 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1318006 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11769616 TRIP11 thyroid hormone receptor interactor 11 gene DOID:0080043 achondrogenesis ISO RGD:1318006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Achondrogenesis 11769616 TRIP11 thyroid hormone receptor interactor 11 gene DOID:0080054 achondrogenesis type IA ISO RGD:1318006 D RGD:7240710 20180130 OMIM 11769616 TRIP11 thyroid hormone receptor interactor 11 gene DOID:0080054 achondrogenesis type IA ISO RGD:1318006 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:16199547|PMID:17576681|PMID:200899|PMID:2008997|PMID:20089971|PMID:23956106|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28600779|PMID:29620724|PMID:29872333|PMID:30728324|PMID:31903676|PMID:34057271|PMID:9536098 11769616 TRIP11 thyroid hormone receptor interactor 11 gene DOID:1591 renovascular hypertension ISO RGD:1318006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Goldblatt syndrome PMID:20089971|PMID:25741868|PMID:28492532|PMID:29872333|PMID:30728324 11769616 TRIP11 thyroid hormone receptor interactor 11 gene DOID:630 genetic disease ISO RGD:1318006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11769616 TRIP11 thyroid hormone receptor interactor 11 gene DOID:65 connective tissue disease ISO RGD:1318006 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:200899|PMID:2008997|PMID:20089971|PMID:25741868|PMID:28492532 11769616 TRIP11 thyroid hormone receptor interactor 11 gene DOID:9003459 Odontochondrodysplasia 1 ISO RGD:1318006 D RGD:7240710 20210414 OMIM 11769616 TRIP11 thyroid hormone receptor interactor 11 gene DOID:9003459 Odontochondrodysplasia 1 ISO RGD:1318006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Goldblatt syndrome PMID:20089971|PMID:25741868|PMID:28492532|PMID:29872333|PMID:30728324 11769646 EDC4 enhancer of mRNA decapping 4 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1606564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11769646 EDC4 enhancer of mRNA decapping 4 gene DOID:630 genetic disease ISO RGD:1606564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11769681 ZNF680 zinc finger protein 680 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11769681 ZNF680 zinc finger protein 680 gene DOID:630 genetic disease ISO RGD:1604477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11769692 NRARP NOTCH regulated ankyrin repeat protein gene DOID:0050777 Joubert syndrome ISO RGD:1604888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11769692 NRARP NOTCH regulated ankyrin repeat protein gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1604888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 11769692 NRARP NOTCH regulated ankyrin repeat protein gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1604888 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 11769692 NRARP NOTCH regulated ankyrin repeat protein gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1604888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11769692 NRARP NOTCH regulated ankyrin repeat protein gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1604888 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11769692 NRARP NOTCH regulated ankyrin repeat protein gene DOID:0081097 Rafiq syndrome ISO RGD:1604888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11769692 NRARP NOTCH regulated ankyrin repeat protein gene DOID:1826 epilepsy ISO RGD:1604888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11769692 NRARP NOTCH regulated ankyrin repeat protein gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1604888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11769692 NRARP NOTCH regulated ankyrin repeat protein gene DOID:9007502 Brain Neoplasms ISO RGD:1604888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 11769697 RASA1 RAS p21 protein activator 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732468 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11769697 RASA1 RAS p21 protein activator 1 gene DOID:0111563 Sturge-Weber syndrome ISO RGD:732468 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Parkes Weber syndrome PMID:25741868|PMID:28492532 11769697 RASA1 RAS p21 protein activator 1 gene DOID:0111563 Sturge-Weber syndrome ISO RGD:732468 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Parkes Weber syndrome PMID:22200646|PMID:23801933|PMID:24038909|PMID:25741868|PMID:27081547|PMID:28492532|PMID:28655553|PMID:29891884 11769697 RASA1 RAS p21 protein activator 1 gene DOID:11294 arteriovenous malformation ISO RGD:732468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14639529 11769697 RASA1 RAS p21 protein activator 1 gene DOID:11294 arteriovenous malformation ISO RGD:732468 D RGD:9068941 20200609 RGD PMID:15917201|REF_RGD_ID:1581296 11769697 RASA1 RAS p21 protein activator 1 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:732468 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:18446851|PMID:24038909|PMID:25741868|PMID:28295764|PMID:28492532|PMID:29891884 11769697 RASA1 RAS p21 protein activator 1 gene DOID:1749 squamous cell carcinoma ISO RGD:732468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 11769697 RASA1 RAS p21 protein activator 1 gene DOID:2513 basal cell carcinoma ISO RGD:732468 D RGD:7240710 20230505 OMIM 11769697 RASA1 RAS p21 protein activator 1 gene DOID:2513 basal cell carcinoma ISO RGD:732468 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 PMID:18446851|PMID:22200646|PMID:23801933|PMID:24038909|PMID:25741868|PMID:28492532|PMID:29891884|PMID:8275088 11769697 RASA1 RAS p21 protein activator 1 gene DOID:2926 Klippel-Trenaunay syndrome ISO RGD:732468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angio-osteohypertrophy syndrome 11769697 RASA1 RAS p21 protein activator 1 gene DOID:305 carcinoma ISO RGD:732468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 11769697 RASA1 RAS p21 protein activator 1 gene DOID:3910 lung adenocarcinoma ISO RGD:732468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 11769697 RASA1 RAS p21 protein activator 1 gene DOID:630 genetic disease ISO RGD:732468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11769697 RASA1 RAS p21 protein activator 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:732468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 11769697 RASA1 RAS p21 protein activator 1 gene DOID:9001616 Port-Wine Stain ISO RGD:732468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14639529 11769697 RASA1 RAS p21 protein activator 1 gene DOID:9001616 Port-Wine Stain ISO RGD:732468 D RGD:9068941 20200609 RGD DNA:mutations:exons:multiple (human) PMID:14639529|REF_RGD_ID:734495 11769697 RASA1 RAS p21 protein activator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11769697 RASA1 RAS p21 protein activator 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:732469 D RGD:9068941 20200609 RGD in males;protein:decreased expression:heart left ventricle (mouse) PMID:24157234|REF_RGD_ID:9999450 11769697 RASA1 RAS p21 protein activator 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 11769697 RASA1 RAS p21 protein activator 1 gene DOID:9005469 Capillary Malformation-Arteriovenous Malformation ISO RGD:732468 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome PMID:14639529|PMID:16199547|PMID:17576681|PMID:18446851|PMID:21626678|PMID:22200646|PMID:23164092|PMID:23650393|PMID:23687085|PMID:23801933|PMID:24038909|PMID:24139535|PMID:25640679|PMID:25741868|PMID:26499346|PMID:26774077|PMID:27081547|PMID:27535533|PMID:28295764|PMID:28492532|PMID:28655553|PMID:29024832|PMID:29110021|PMID:29120072|PMID:29171923|PMID:29891884|PMID:30120215|PMID:9536098 11769697 RASA1 RAS p21 protein activator 1 gene DOID:9005469 Capillary Malformation-Arteriovenous Malformation susceptibility ISO RGD:732468 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:14639529|REF_RGD_ID:734495 11769697 RASA1 RAS p21 protein activator 1 gene DOID:9006290 Central Nervous System Venous Angioma ISO RGD:732468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral venous angioma PMID:23650393|PMID:25741868|PMID:31680349 11769697 RASA1 RAS p21 protein activator 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732468 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11769697 RASA1 RAS p21 protein activator 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11769697 RASA1 RAS p21 protein activator 1 gene DOID:9007729 Multiple Basal Cell Carcinoma ISO RGD:732468 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, multiple PMID:22200646|PMID:23801933|PMID:24038909|PMID:25741868|PMID:28492532 11769697 RASA1 RAS p21 protein activator 1 gene DOID:9008640 Capillary Malformation-Arteriovenous Malformation 1 ISO RGD:732468 D RGD:7240710 20190327 OMIM 11769697 RASA1 RAS p21 protein activator 1 gene DOID:9008640 Capillary Malformation-Arteriovenous Malformation 1 ISO RGD:732468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 PMID:14639529|PMID:16199547|PMID:18363760|PMID:18446851|PMID:22200646|PMID:23164092|PMID:23801933|PMID:24038909|PMID:25040287|PMID:25741868|PMID:26499346|PMID:27081547|PMID:27535533|PMID:28492532|PMID:28655553|PMID:29891884 11769697 RASA1 RAS p21 protein activator 1 gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:732468 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY PMID:25741868 11769726 CMTM5 CKLF like MARVEL transmembrane domain containing 5 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1316008 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11769726 CMTM5 CKLF like MARVEL transmembrane domain containing 5 gene DOID:630 genetic disease ISO RGD:1316008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11769726 CMTM5 CKLF like MARVEL transmembrane domain containing 5 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1316008 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 11769726 CMTM5 CKLF like MARVEL transmembrane domain containing 5 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1316008 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11769736 APBA1 amyloid beta precursor protein binding family A member 1 gene DOID:630 genetic disease ISO RGD:732461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11769764 INPP5J inositol polyphosphate-5-phosphatase J gene DOID:630 genetic disease ISO RGD:1349321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11769787 GRIK4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:0060017 CD3epsilon deficiency ISO RGD:733741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 11769787 GRIK4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:733741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11769787 GRIK4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:0080690 RASopathy ISO RGD:733741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11769787 GRIK4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:733741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 11769787 GRIK4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:0111971 immunodeficiency 18 ISO RGD:733741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 11769787 GRIK4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:0111972 immunodeficiency 19 ISO RGD:733741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 11769787 GRIK4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:0111973 immunodeficiency 17 ISO RGD:733741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 11769787 GRIK4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:5419 schizophrenia ISO RGD:733741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11769787 GRIK4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:630 genetic disease ISO RGD:733741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11769787 GRIK4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11769787 GRIK4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:9007661 Dwarfism ISO RGD:733741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11769808 DIABLO diablo IAP-binding mitochondrial protein gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:1322043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA PMID:25741868 11769808 DIABLO diablo IAP-binding mitochondrial protein gene DOID:0110585 autosomal dominant nonsyndromic deafness 64 ISO RGD:1322043 D RGD:7240710 20180130 OMIM 11769808 DIABLO diablo IAP-binding mitochondrial protein gene DOID:0110585 autosomal dominant nonsyndromic deafness 64 ISO RGD:1322043 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 64 PMID:21722859|PMID:25741868 11769808 DIABLO diablo IAP-binding mitochondrial protein gene DOID:12858 Huntington's disease ISO RGD:1322043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12930891 11769808 DIABLO diablo IAP-binding mitochondrial protein gene DOID:2316 brain ischemia ISO RGD:1322043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11756504 11769808 DIABLO diablo IAP-binding mitochondrial protein gene DOID:3908 lung non-small cell carcinoma ISO RGD:1322043 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:16231180|REF_RGD_ID:13434909 11769808 DIABLO diablo IAP-binding mitochondrial protein gene DOID:630 genetic disease ISO RGD:1322043 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266 11769808 DIABLO diablo IAP-binding mitochondrial protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322043 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17718901 11769808 DIABLO diablo IAP-binding mitochondrial protein gene DOID:9004538 Hearing Loss ISO RGD:1322043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30311386 11769808 DIABLO diablo IAP-binding mitochondrial protein gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1322043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30664745 11769808 DIABLO diablo IAP-binding mitochondrial protein gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1322043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14998631 11769828 ERVH48-1 endogenous retrovirus group 48 member 1, envelope gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11769845 NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1603903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant PMID:24442880|PMID:28492532 11769845 NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 gene DOID:0080761 Fanconi renotubular syndrome 5 ISO RGD:1603903 D RGD:7240710 20200701 OMIM 11769845 NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 gene DOID:0080761 Fanconi renotubular syndrome 5 ISO RGD:1603903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi renotubular syndrome 5 PMID:25741868|PMID:27466185|PMID:28492532 11769845 NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 gene DOID:0112078 nuclear type mitochondrial complex I deficiency 17 ISO RGD:1603903 D RGD:7240710 20190315 OMIM 11769845 NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 gene DOID:0112078 nuclear type mitochondrial complex I deficiency 17 ISO RGD:1603903 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 PMID:18614015|PMID:22019594|PMID:25741868|PMID:26741492|PMID:27623250|PMID:28492532|PMID:28639102|PMID:29531337|PMID:30642748|PMID:31665838|PMID:31967322|PMID:32348839|PMID:33097395 11769845 NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 gene DOID:3652 Leigh disease ISO RGD:1603903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:17576681|PMID:25741868|PMID:26741492|PMID:28492532|PMID:28639102|PMID:30642748|PMID:31665838|PMID:31967322|PMID:32348839|PMID:33097395|PMID:9536098 11769845 NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 gene DOID:630 genetic disease ISO RGD:1603903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:27623250|PMID:28492532|PMID:29531337|PMID:9536098 11769845 NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1603903 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:26741492|PMID:28492532|PMID:28639102|PMID:30642748|PMID:31665838|PMID:31967322|PMID:32348839|PMID:33097395 11769861 CTBP2 C-terminal binding protein 2 gene DOID:630 genetic disease ISO RGD:68535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11769861 CTBP2 C-terminal binding protein 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18264096 11769861 CTBP2 C-terminal binding protein 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:68535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28414304 11769861 CTBP2 C-terminal binding protein 2 gene DOID:9007098 Pulmonary Atresia ISO RGD:68535 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia PMID:25741868 11769861 CTBP2 C-terminal binding protein 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:68535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28414304 11769895 LMX1B LIM homeobox transcription factor 1 beta gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11769895 LMX1B LIM homeobox transcription factor 1 beta gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1345352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11769895 LMX1B LIM homeobox transcription factor 1 beta gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11769895 LMX1B LIM homeobox transcription factor 1 beta gene DOID:10966 lipoid nephrosis ISO RGD:1345352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lipoid nephrosis PMID:23687361|PMID:32581362 11769895 LMX1B LIM homeobox transcription factor 1 beta gene DOID:1168 familial hyperlipidemia ISO RGD:1345352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20199424 11769895 LMX1B LIM homeobox transcription factor 1 beta gene DOID:11836 clubfoot ISO RGD:1345352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19147669 11769895 LMX1B LIM homeobox transcription factor 1 beta gene DOID:1184 nephrotic syndrome ISO RGD:1345352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:23687361|PMID:24042019|PMID:25741868|PMID:26560070|PMID:28059119|PMID:28492532|PMID:29127259|PMID:32356190|PMID:32791958|PMID:33532864 11769895 LMX1B LIM homeobox transcription factor 1 beta gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1345352 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868|PMID:28492532 11769895 LMX1B LIM homeobox transcription factor 1 beta gene DOID:150 disease of mental health ISO RGD:1345352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20199424 11769895 LMX1B LIM homeobox transcription factor 1 beta gene DOID:557 kidney disease ISO RGD:1345352 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 11769895 LMX1B LIM homeobox transcription factor 1 beta gene DOID:576 proteinuria ISO RGD:1345352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19147669|PMID:20199424 11769895 LMX1B LIM homeobox transcription factor 1 beta gene DOID:630 genetic disease ISO RGD:1345352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11769895 LMX1B LIM homeobox transcription factor 1 beta gene DOID:9000363 Hematuria ISO RGD:1345352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19147669 11769895 LMX1B LIM homeobox transcription factor 1 beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11769895 LMX1B LIM homeobox transcription factor 1 beta gene DOID:9004576 Sleep Initiation and Maintenance Disorders ISO RGD:1345352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20199424 11769895 LMX1B LIM homeobox transcription factor 1 beta gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1345352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 11769895 LMX1B LIM homeobox transcription factor 1 beta gene DOID:9006677 Salcedo Syndrome ISO RGD:1345352 D RGD:7240710 20201223 OMIM 11769895 LMX1B LIM homeobox transcription factor 1 beta gene DOID:9006677 Salcedo Syndrome ISO RGD:1345352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nail-patella-like renal disease PMID:23687361|PMID:24042019|PMID:25741868|PMID:26560070|PMID:28059119|PMID:28492532|PMID:29127259|PMID:32356190|PMID:32581362|PMID:32791958|PMID:33532864 11769895 LMX1B LIM homeobox transcription factor 1 beta gene DOID:9467 nail-patella syndrome ISO RGD:1345352 D RGD:7240710 20180130 OMIM 11769895 LMX1B LIM homeobox transcription factor 1 beta gene DOID:9467 nail-patella syndrome ISO RGD:1345352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nail-patella syndrome PMID:10854116|PMID:15498463|PMID:15774843|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18414507|PMID:23687361|PMID:24042019|PMID:24720768|PMID:25741868|PMID:25898926|PMID:26380986|PMID:26560070|PMID:27450397|PMID:28059119|PMID:28335748|PMID:28492532|PMID:28780565|PMID:29127259|PMID:29869118|PMID:30881852|PMID:32356190|PMID:32791958|PMID:33532864|PMID:9536098|PMID:9590287|PMID:9618165|PMID:9837817 11769906 EPB41L3 erythrocyte membrane protein band 4.1 like 3 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:732325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11769906 EPB41L3 erythrocyte membrane protein band 4.1 like 3 gene DOID:1059 intellectual disability ISO RGD:732325 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11769906 EPB41L3 erythrocyte membrane protein band 4.1 like 3 gene DOID:1324 lung cancer ISO RGD:732325 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 11769906 EPB41L3 erythrocyte membrane protein band 4.1 like 3 gene DOID:3565 meningioma ISO RGD:732325 D RGD:9068941 20200609 RGD PMID:10888600|REF_RGD_ID:1300356 11769906 EPB41L3 erythrocyte membrane protein band 4.1 like 3 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:732325 D RGD:9068941 20220331 RGD DNA:hypermethylation PMID:25050929|REF_RGD_ID:151665741 11769906 EPB41L3 erythrocyte membrane protein band 4.1 like 3 gene DOID:630 genetic disease ISO RGD:732325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11769906 EPB41L3 erythrocyte membrane protein band 4.1 like 3 gene DOID:9008939 Breast Neoplasms ISO RGD:732325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17260099 11769943 ARHGAP27 Rho GTPase activating protein 27 gene DOID:630 genetic disease ISO RGD:1346833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11769972 BEAN1 brain expressed associated with NEDD4 1 gene DOID:0050980 spinocerebellar ataxia type 31 ISO RGD:4144982 D RGD:7240710 20190315 OMIM 11769972 BEAN1 brain expressed associated with NEDD4 1 gene DOID:0050980 spinocerebellar ataxia type 31 ISO RGD:4144982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 31 PMID:19878914 11769972 BEAN1 brain expressed associated with NEDD4 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:4144982 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11769972 BEAN1 brain expressed associated with NEDD4 1 gene DOID:0110255 cataract 5 multiple types ISO RGD:4144982 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 11769972 BEAN1 brain expressed associated with NEDD4 1 gene DOID:630 genetic disease ISO RGD:4144982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11769981 ADAM17 ADAM metallopeptidase domain 17 gene DOID:0050855 renal fibrosis ISO RGD:731400 D RGD:9068941 20200609 RGD PMID:22015440|REF_RGD_ID:13703100 11769981 ADAM17 ADAM metallopeptidase domain 17 gene DOID:0060180 colitis ISO RGD:731400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24548422 11769981 ADAM17 ADAM metallopeptidase domain 17 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:731400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 11769981 ADAM17 ADAM metallopeptidase domain 17 gene DOID:10652 Alzheimer's disease ISO RGD:620404 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex, hippocampus PMID:24792732|REF_RGD_ID:13703037 11769981 ADAM17 ADAM metallopeptidase domain 17 gene DOID:10652 Alzheimer's disease onset ISO RGD:731400 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.R215I (rs142946965) (human) PMID:29988083|REF_RGD_ID:13782143 11769981 ADAM17 ADAM metallopeptidase domain 17 gene DOID:14004 thoracic aortic aneurysm ISO RGD:620404 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:20621845|REF_RGD_ID:5129489 11769981 ADAM17 ADAM metallopeptidase domain 17 gene DOID:3310 atopic dermatitis ISO RGD:731401 D RGD:9068941 20220825 MouseDO OMIM:603165 11769981 ADAM17 ADAM metallopeptidase domain 17 gene DOID:5199 ureteral obstruction ISO RGD:731401 D RGD:9068941 20200609 RGD PMID:24103556|REF_RGD_ID:13703030 11769981 ADAM17 ADAM metallopeptidase domain 17 gene DOID:6000 congestive heart failure treatment ISO RGD:620404 D RGD:9068941 20200609 RGD associated with pulmonary hypertension PMID:22628376|REF_RGD_ID:13703064 11769981 ADAM17 ADAM metallopeptidase domain 17 gene DOID:630 genetic disease ISO RGD:731400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11769981 ADAM17 ADAM metallopeptidase domain 17 gene DOID:9000099 Experimental Colitis treatment ISO RGD:620404 D RGD:9068941 20200609 RGD PMID:11884025|REF_RGD_ID:632022 11769981 ADAM17 ADAM metallopeptidase domain 17 gene DOID:9000113 Pneumococcal Meningitis treatment ISO RGD:620404 D RGD:9068941 20200609 RGD PMID:24491581|REF_RGD_ID:13703038 11769981 ADAM17 ADAM metallopeptidase domain 17 gene DOID:9001556 Neonatal Inflammatory Skin and Bowel Disease 1 ISO RGD:731400 D RGD:7240710 20180130 OMIM 11769981 ADAM17 ADAM metallopeptidase domain 17 gene DOID:9001556 Neonatal Inflammatory Skin and Bowel Disease 1 ISO RGD:731400 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inflammatory skin and bowel disease, neonatal, 1 PMID:16199547|PMID:17576681|PMID:22010916|PMID:25640679|PMID:25741868|PMID:25804906|PMID:26683521|PMID:28492532|PMID:29560122|PMID:31060243|PMID:32447396|PMID:9536098 11769981 ADAM17 ADAM metallopeptidase domain 17 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11769981 ADAM17 ADAM metallopeptidase domain 17 gene DOID:9002457 Experimental Arthritis ISO RGD:620404 D RGD:9068941 20200609 RGD PMID:23897050|REF_RGD_ID:13703039 11769981 ADAM17 ADAM metallopeptidase domain 17 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:620404 D RGD:9068941 20200609 RGD PMID:15878627|REF_RGD_ID:1559178 11769981 ADAM17 ADAM metallopeptidase domain 17 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:620404 D RGD:9068941 20200609 RGD associated with hypertension PMID:23850346|REF_RGD_ID:13703040 11769981 ADAM17 ADAM metallopeptidase domain 17 gene DOID:9004756 Brain Hypoxia ISO RGD:620404 D RGD:9068941 20200609 RGD PMID:22230263|REF_RGD_ID:13703065 11769981 ADAM17 ADAM metallopeptidase domain 17 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:620404 D RGD:9068941 20200609 RGD PMID:22015440|REF_RGD_ID:13703100 11769981 ADAM17 ADAM metallopeptidase domain 17 gene DOID:9008110 Blister ISO RGD:731400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19167455 11769981 ADAM17 ADAM metallopeptidase domain 17 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731400 D RGD:9068941 20200609 RGD protein:increased activity:artery smooth muscle PMID:19581416|REF_RGD_ID:2313250 11769981 ADAM17 ADAM metallopeptidase domain 17 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731400 D RGD:9068941 20200609 RGD protein:increased activity:skeletal muscle tissue PMID:19633828|REF_RGD_ID:2312470 11770006 RECQL5 RecQ like helicase 5 gene DOID:2661 myoepithelioma ISO RGD:1321946 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11770006 RECQL5 RecQ like helicase 5 gene DOID:630 genetic disease ISO RGD:1321946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770037 ANOS1 anosmin 1 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1350490 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 11770037 ANOS1 anosmin 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1350490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:11297579|PMID:23643382|PMID:25636053|PMID:28492532|PMID:8504298 11770037 ANOS1 anosmin 1 gene DOID:0090094 hypogonadotropic hypogonadism 1 with or without anosmia ISO RGD:1350490 D RGD:7240710 20180822 OMIM 11770037 ANOS1 anosmin 1 gene DOID:0090094 hypogonadotropic hypogonadism 1 with or without anosmia ISO RGD:1350490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 1 with or without anosmia PMID:11044805|PMID:11297579|PMID:12050219|PMID:12727945|PMID:15001591|PMID:1518845|PMID:15605412|PMID:1594017|PMID:16199547|PMID:1639422|PMID:16882753|PMID:17054399|PMID:17576681|PMID:18259106|PMID:1904396|PMID:21681106|PMID:22035731|PMID:23100014|PMID:23410897|PMID:23533228|PMID:23643382|PMID:23721716|PMID:23849776|PMID:24031091|PMID:25064402|PMID:25077900|PMID:25339597|PMID:25636053|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26708526|PMID:26862482|PMID:27657687|PMID:28122887|PMID:28295047|PMID:28492532|PMID:28566479|PMID:28708303|PMID:28915117|PMID:30098700|PMID:31200363|PMID:31602316|PMID:32870266|PMID:8504298|PMID:9536098|PMID:9589672|PMID:9713559 11770037 ANOS1 anosmin 1 gene DOID:0111586 Martsolf syndrome 1 ISO RGD:1350490 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:11044805|PMID:15001591|PMID:25077900|PMID:25741868 11770037 ANOS1 anosmin 1 gene DOID:12849 autistic disorder ISO RGD:1350490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11770037 ANOS1 anosmin 1 gene DOID:13938 amenorrhea ISO RGD:1350490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:27657687|PMID:28492532|PMID:32870266 11770037 ANOS1 anosmin 1 gene DOID:1921 Klinefelter syndrome ISO RGD:1350490 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 11770037 ANOS1 anosmin 1 gene DOID:3614 Kallmann syndrome ISO RGD:1350490 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11770037 ANOS1 anosmin 1 gene DOID:630 genetic disease ISO RGD:1350490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11770037 ANOS1 anosmin 1 gene DOID:9001239 Delayed Puberty ISO RGD:1350490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Delayed puberty PMID:11297579|PMID:23643382|PMID:25636053|PMID:28492532|PMID:8504298 11770037 ANOS1 anosmin 1 gene DOID:9003503 Penis Agenesis ISO RGD:1350490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Micropenis PMID:11297579|PMID:25741868 11770037 ANOS1 anosmin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11770054 GRN granulin precursor gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:1345254 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluids PMID:21613335|REF_RGD_ID:5509591 11770054 GRN granulin precursor gene DOID:0050784 primary progressive multiple sclerosis susceptibility ISO RGD:1345254 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2879096, rs4792938(human) PMID:20463744|REF_RGD_ID:5509596 11770054 GRN granulin precursor gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:1345254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 PMID:16862116|PMID:16950801|PMID:17698705|PMID:22608501|PMID:25741868|PMID:26467025|PMID:28492532 11770054 GRN granulin precursor gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1345254 D RGD:7240710 20180130 OMIM 11770054 GRN granulin precursor gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1345254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:12459547|PMID:12476321|PMID:16199547|PMID:16401619|PMID:16495329|PMID:16862115|PMID:16862116|PMID:1695080|PMID:16950801|PMID:16983677|PMID:16983685|PMID:17071927|PMID:17202431|PMID:17210807|PMID:17228326|PMID:17345602|PMID:17356379|PMID:17371905|PMID:17436289|PMID:17439980|PMID:17522386|PMID:17576681|PMID:17620546|PMID:17698705|PMID:17826340|PMID:17917583|PMID:17923627|PMID:17949857|PMID:17950702|PMID:17984093|PMID:18183624|PMID:18184915|PMID:18192287|PMID:18223198|PMID:18234697|PMID:18245784|PMID:18314228|PMID:18322394|PMID:18359860|PMID:18392865|PMID:18413474|PMID:18464284|PMID:18543312|PMID:18551524|PMID:18565828|PMID:18703462|PMID:18723524|PMID:18752597|PMID:18838661|PMID:18855025|PMID:19012866|PMID:19020205|PMID:19030774|PMID:19133655|PMID:19158106|PMID:19288468|PMID:19632744|PMID:19649643|PMID:19683260|PMID:19766663|PMID:19858458|PMID:19884572|PMID:20020531|PMID:20028451|PMID:20045477|PMID:20087814|PMID:20142524|PMID:20142525|PMID:20301545|PMID:20522652|PMID:20937952|PMID:20947212|PMID:21403024|PMID:21454553|PMID:21482928|PMID:21569259|PMID:21695656|PMID:21753165|PMID:21800185|PMID:21891869|PMID:22127750|PMID:22312439|PMID:22459598|PMID:22491866|PMID:22608501|PMID:22647257|PMID:22781549|PMID:22818528|PMID:22819134|PMID:22906081|PMID:22995991|PMID:23117491|PMID:23338682|PMID:23463024|PMID:23596077|PMID:23609919|PMID:23624518|PMID:23684369|PMID:23724906|PMID:23742080|PMID:23759146|PMID:23770887|PMID:23813535|PMID:23990795|PMID:24022032|PMID:24081456|PMID:24387985|PMID:24494724|PMID:24503614|PMID:24703252|PMID:24814951|PMID:25104557|PMID:25333068|PMID:25525159|PMID:25546130|PMID:25558820|PMID:25604855|PMID:25715738|PMID:25741868|PMID:25943890|PMID:26075876|PMID:26159191|PMID:26460020|PMID:26467025|PMID:26652843|PMID:26674655|PMID:26791154|PMID:26811050|PMID:26925509|PMID:27082848|PMID:27311648|PMID:27341800|PMID:27567822|PMID:27632209|PMID:27790088|PMID:27884173|PMID:27997711|PMID:28000352|PMID:28473694|PMID:28492532|PMID:28543767|PMID:28664756|PMID:29036611|PMID:29339765|PMID:29486463|PMID:29525178|PMID:29525180|PMID:29530724|PMID:29614680|PMID:29724592|PMID:29874572|PMID:30054184|PMID:30090657|PMID:30279455|PMID:30528841|PMID:30530974|PMID:30924900|PMID:30954774|PMID:30992141|PMID:31031559|PMID:31122931|PMID:31182772|PMID:31262553|PMID:31361008|PMID:31600775|PMID:31810826|PMID:31855245|PMID:31914217|PMID:31996268|PMID:32028661|PMID:32317127|PMID:32474471|PMID:32507413|PMID:32843152|PMID:33016921|PMID:33351065|PMID:33980708|PMID:34162492|PMID:34573259|PMID:6497355|PMID:9152110|PMID:9259373|PMID:9536098|PMID:9633693 11770054 GRN granulin precursor gene DOID:0080855 Parkinsonism ISO RGD:1345254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Parkinsonism 11770054 GRN granulin precursor gene DOID:0110732 neuronal ceroid lipofuscinosis 11 ISO RGD:1345254 D RGD:7240710 20180130 OMIM 11770054 GRN granulin precursor gene DOID:0110732 neuronal ceroid lipofuscinosis 11 ISO RGD:1345254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 11 PMID:16862116|PMID:16950801|PMID:17698705|PMID:18245784|PMID:18392865|PMID:18723524|PMID:20142524|PMID:20522652|PMID:20947212|PMID:21891869|PMID:22127750|PMID:22312439|PMID:22608501|PMID:23117491|PMID:25525159|PMID:25546130|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29614680|PMID:30279455|PMID:30528841|PMID:31122931 11770054 GRN granulin precursor gene DOID:10652 Alzheimer's disease ISO RGD:1345254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16199547|PMID:16862116|PMID:16950801|PMID:22608501|PMID:28492532|PMID:30279455 11770054 GRN granulin precursor gene DOID:10652 Alzheimer's disease onset ISO RGD:1345254 D RGD:9068941 20200609 RGD DNA:deletion:exon:c.154delA(human) PMID:20142525|REF_RGD_ID:5509601 11770054 GRN granulin precursor gene DOID:10652 Alzheimer's disease severity ISO RGD:62275 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:microglia, neuron: PMID:19557827|REF_RGD_ID:5509606 11770054 GRN granulin precursor gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:62275 D RGD:9068941 20220825 MouseDO OMIM:125800 | OMIM:304800 11770054 GRN granulin precursor gene DOID:12849 autistic disorder ISO RGD:1345254 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:21892962|REF_RGD_ID:5509590 11770054 GRN granulin precursor gene DOID:1307 dementia ISO RGD:1345254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17436289|PMID:18543312 11770054 GRN granulin precursor gene DOID:1307 dementia onset ISO RGD:1345254 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs1990622(human) PMID:21220649|REF_RGD_ID:5509592 11770054 GRN granulin precursor gene DOID:14330 Parkinson's disease ISO RGD:1345254 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:23398167|REF_RGD_ID:10401642 11770054 GRN granulin precursor gene DOID:14330 Parkinson's disease no_association ISO RGD:1345254 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:*78C>T (rs5848) (human) PMID:19473366|REF_RGD_ID:10401644 11770054 GRN granulin precursor gene DOID:1824 status epilepticus ISO RGD:61983 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:23887054|REF_RGD_ID:10401660 11770054 GRN granulin precursor gene DOID:1936 atherosclerosis ISO RGD:1345254 D RGD:9068941 20200609 RGD protein:increased expression:smooth muscle cell, macrophage PMID:19321167|REF_RGD_ID:5509781 11770054 GRN granulin precursor gene DOID:2377 multiple sclerosis ISO RGD:1345254 D RGD:9068941 20200609 RGD protein:increased expression:macrophage, microglia PMID:21613335|REF_RGD_ID:5509591 11770054 GRN granulin precursor gene DOID:2378 relapsing-remitting multiple sclerosis disease_progression ISO RGD:1345254 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluids PMID:21613335|REF_RGD_ID:5509591 11770054 GRN granulin precursor gene DOID:3312 bipolar disorder ISO RGD:1345254 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:24581833|REF_RGD_ID:10401641 11770054 GRN granulin precursor gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:1345254 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord, microglia PMID:21107132|REF_RGD_ID:5509593 11770054 GRN granulin precursor gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:62275 D RGD:9068941 20200609 RGD PMID:21107132|REF_RGD_ID:5509593 11770054 GRN granulin precursor gene DOID:332 amyotrophic lateral sclerosis onset ISO RGD:1345254 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:18184915|REF_RGD_ID:5509619 11770054 GRN granulin precursor gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:62275 D RGD:9068941 20200609 RGD PMID:23972823|REF_RGD_ID:10401661 11770054 GRN granulin precursor gene DOID:3526 cerebral infarction ISO RGD:1345254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ischemic stroke PMID:18723524|PMID:28492532 11770054 GRN granulin precursor gene DOID:630 genetic disease ISO RGD:1345254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12459547|PMID:16950801|PMID:17202431|PMID:17228326|PMID:17345602|PMID:17371905|PMID:17436289|PMID:17576681|PMID:17984093|PMID:18183624|PMID:18184915|PMID:18192287|PMID:18223198|PMID:18234697|PMID:18245784|PMID:18314228|PMID:18359860|PMID:18464284|PMID:18543312|PMID:18565828|PMID:18752597|PMID:18838661|PMID:19012866|PMID:19030774|PMID:19158106|PMID:19632744|PMID:19649643|PMID:20020531|PMID:20028451|PMID:20142524|PMID:21800185|PMID:22312439|PMID:22781549|PMID:22995991|PMID:23463024|PMID:23684369|PMID:23724906|PMID:23742080|PMID:23759146|PMID:23770887|PMID:23990795|PMID:24503614|PMID:25104557|PMID:25333068|PMID:25558820|PMID:25715738|PMID:25741868|PMID:26075876|PMID:26159191|PMID:26460020|PMID:26467025|PMID:26652843|PMID:26811050|PMID:26925509|PMID:27632209|PMID:27790088|PMID:27884173|PMID:27997711|PMID:28492532|PMID:28717666|PMID:29486463|PMID:29525178|PMID:29525180|PMID:30279455|PMID:32028661|PMID:32317127|PMID:32507413|PMID:9536098 11770054 GRN granulin precursor gene DOID:9000039 Spinal Cord Injuries ISO RGD:62275 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord: PMID:19946692|REF_RGD_ID:5509603 11770054 GRN granulin precursor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11770054 GRN granulin precursor gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1345254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20154673 11770054 GRN granulin precursor gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1345254 D RGD:9068941 20200609 RGD DNA, protein:mutations, decreased expression:plasma:multiple PMID:19158106|REF_RGD_ID:10401634 11770054 GRN granulin precursor gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1345254 D RGD:9068941 20200609 RGD DNA:frameshift mutation, missense mutations, nonsense mutation:exon:multiple PMID:17228326|REF_RGD_ID:10401647 11770054 GRN granulin precursor gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1345254 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:22797721|REF_RGD_ID:10401637 11770054 GRN granulin precursor gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1345254 D RGD:9068941 20200609 RGD DNA:mutation:intron:IVS6-1G>A (human) PMID:17950702|REF_RGD_ID:10401638 11770054 GRN granulin precursor gene DOID:9002031 Frontotemporal Lobar Degeneration onset ISO RGD:1345254 D RGD:9068941 20200609 RGD DNA:SNP: :rs9897526 (human) PMID:18192287|REF_RGD_ID:10401650 11770054 GRN granulin precursor gene DOID:9002457 Experimental Arthritis ISO RGD:62275 D RGD:9068941 20200609 RGD PMID:21393509|REF_RGD_ID:5509782 11770054 GRN granulin precursor gene DOID:9002955 Nerve Degeneration ISO RGD:1345254 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21820214 11770054 GRN granulin precursor gene DOID:9007096 Stroke ISO RGD:1345254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CEREBROVASCULAR ACCIDENT PMID:18723524|PMID:28492532 11770054 GRN granulin precursor gene DOID:9008293 Primary Progressive Aphasia ISO RGD:1345254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Primary progressive aphasia PMID:12794388|PMID:16862116|PMID:16950801|PMID:17202431|PMID:17210807|PMID:17439980|PMID:17522386|PMID:17698705|PMID:18183624|PMID:18245784|PMID:18392865|PMID:18551524|PMID:20087814|PMID:20142524|PMID:20522652|PMID:20947212|PMID:21454553|PMID:21482928|PMID:21891869|PMID:22127750|PMID:22608501|PMID:25741868|PMID:26467025|PMID:26791154|PMID:28492532|PMID:6497355 11770054 GRN granulin precursor gene DOID:9255 frontotemporal dementia ISO RGD:1345254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: GRN-Related Frontotemporal Dementia PMID:16862116|PMID:16950801|PMID:18234697|PMID:18723524|PMID:19158106|PMID:19683260|PMID:20045477|PMID:20142524|PMID:21403024|PMID:22491866|PMID:22608501|PMID:23463024|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29724592|PMID:30279455|PMID:30992141|PMID:31600775 11770074 PLEKHM2 pleckstrin homology and RUN domain containing M2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1315942 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11770074 PLEKHM2 pleckstrin homology and RUN domain containing M2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1315942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17576681|PMID:28492532|PMID:9536098 11770074 PLEKHM2 pleckstrin homology and RUN domain containing M2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1315942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17576681|PMID:28492532|PMID:9536098 11770074 PLEKHM2 pleckstrin homology and RUN domain containing M2 gene DOID:630 genetic disease ISO RGD:1315942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11770074 PLEKHM2 pleckstrin homology and RUN domain containing M2 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1315942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23721890|PMID:28492532 11770096 ME2 malic enzyme 2 gene DOID:1059 intellectual disability ISO RGD:1321157 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11770096 ME2 malic enzyme 2 gene DOID:630 genetic disease ISO RGD:1321157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770096 ME2 malic enzyme 2 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1310321 D RGD:9068941 20220224 RGD mRNA:increased expression:right and right ventricles PMID:23794090|REF_RGD_ID:151361111 11770118 ZNF286A zinc finger protein 286A gene DOID:630 genetic disease ISO RGD:1350825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770119 LOC100994056 olfactory receptor 8B4 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1342821 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11770119 LOC100994056 olfactory receptor 8B4 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1342821 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11770119 LOC100994056 olfactory receptor 8B4 gene DOID:5419 schizophrenia ISO RGD:1342821 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11770119 LOC100994056 olfactory receptor 8B4 gene DOID:630 genetic disease ISO RGD:1342821 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770119 LOC100994056 olfactory receptor 8B4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1342821 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11770119 LOC100994056 olfactory receptor 8B4 gene DOID:9007661 Dwarfism ISO RGD:1342821 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11770122 LOC100994060 developmentally-regulated GTP-binding protein 2 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1343223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 11770122 LOC100994060 developmentally-regulated GTP-binding protein 2 gene DOID:0050777 Joubert syndrome ISO RGD:1343223 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11770122 LOC100994060 developmentally-regulated GTP-binding protein 2 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1343223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 11770122 LOC100994060 developmentally-regulated GTP-binding protein 2 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1343223 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 11770122 LOC100994060 developmentally-regulated GTP-binding protein 2 gene DOID:12849 autistic disorder ISO RGD:1343223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11770122 LOC100994060 developmentally-regulated GTP-binding protein 2 gene DOID:630 genetic disease ISO RGD:1343223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770123 ZIC4 Zic family member 4 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1316410 D RGD:9068941 20220825 MouseDO OMIM:220200 11770123 ZIC4 Zic family member 4 gene DOID:630 genetic disease ISO RGD:1316409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11770123 ZIC4 Zic family member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1316409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11770143 NSA2 NSA2 ribosome biogenesis factor gene DOID:12236 primary biliary cholangitis ISO RGD:1607078 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18422935 11770143 NSA2 NSA2 ribosome biogenesis factor gene DOID:3323 Sandhoff disease ISO RGD:1607078 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 11770143 NSA2 NSA2 ribosome biogenesis factor gene DOID:630 genetic disease ISO RGD:1607078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770143 NSA2 NSA2 ribosome biogenesis factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11770154 VAMP5 vesicle associated membrane protein 5 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1350486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 11770154 VAMP5 vesicle associated membrane protein 5 gene DOID:3393 coronary artery disease ISO RGD:1350486 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 11770154 VAMP5 vesicle associated membrane protein 5 gene DOID:630 genetic disease ISO RGD:1350486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770161 UBC ubiquitin C gene DOID:0080600 COVID-19 ISO RGD:1346853 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 11770161 UBC ubiquitin C gene DOID:630 genetic disease ISO RGD:1346853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770206 PCDHB1 protocadherin beta 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1318719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11770206 PCDHB1 protocadherin beta 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11770206 PCDHB1 protocadherin beta 1 gene DOID:10283 prostate cancer ISO RGD:1318719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11770206 PCDHB1 protocadherin beta 1 gene DOID:630 genetic disease ISO RGD:1318719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770206 PCDHB1 protocadherin beta 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11770206 PCDHB1 protocadherin beta 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11770211 LRRC30 leucine rich repeat containing 30 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1343727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11770211 LRRC30 leucine rich repeat containing 30 gene DOID:1059 intellectual disability ISO RGD:1343727 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11770211 LRRC30 leucine rich repeat containing 30 gene DOID:630 genetic disease ISO RGD:1343727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770216 FAAH2 fatty acid amide hydrolase 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11770216 FAAH2 fatty acid amide hydrolase 2 gene DOID:12849 autistic disorder ISO RGD:1603557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:21681106|PMID:30208311 11770216 FAAH2 fatty acid amide hydrolase 2 gene DOID:4450 renal cell carcinoma ISO RGD:1603557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 11770216 FAAH2 fatty acid amide hydrolase 2 gene DOID:630 genetic disease ISO RGD:1603557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770238 WASF1 WASP family member 1 gene DOID:0080600 COVID-19 ISO RGD:1343996 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11770238 WASF1 WASP family member 1 gene DOID:1059 intellectual disability ISO RGD:1343996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:29961568|PMID:32581362 11770238 WASF1 WASP family member 1 gene DOID:630 genetic disease ISO RGD:1343996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770238 WASF1 WASP family member 1 gene DOID:9001367 NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES ISO RGD:1343996 D RGD:7240710 20220323 OMIM 11770238 WASF1 WASP family member 1 gene DOID:9001367 NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES ISO RGD:1343996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with absent language and variable seizures PMID:25741868|PMID:29961568|PMID:32581362 11770238 WASF1 WASP family member 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:1343996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:29961568|PMID:32581362 11770252 NKX3-1 NK3 homeobox 1 gene DOID:10283 prostate cancer ISO RGD:1313355 D RGD:9068941 20220825 MouseDO OMIM:176807 | OMIM:300147 | OMIM:300704 | OMIM:601518 | OMIM:602759 | OMIM:608656 | OMIM:608658 | OMIM:609299 | OMIM:609558 | OMIM:610321 | OMIM:610997 | OMIM:611100 | OMIM:611868 | OMIM:611928 | OMIM:611955 | OMIM:611958 | OMIM:611959 11770252 NKX3-1 NK3 homeobox 1 gene DOID:13938 amenorrhea ISO RGD:1313354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11770252 NKX3-1 NK3 homeobox 1 gene DOID:630 genetic disease ISO RGD:1313354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770252 NKX3-1 NK3 homeobox 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1313354 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:28972178|REF_RGD_ID:14401599 11770252 NKX3-1 NK3 homeobox 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1313354 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:28972178|REF_RGD_ID:14401599 11770252 NKX3-1 NK3 homeobox 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313354 D RGD:9068941 20200910 CTD CTD Direct Evidence: marker/mechanism PMID:16817226|PMID:17173048|PMID:17202838|PMID:22610119|PMID:32690948 11770252 NKX3-1 NK3 homeobox 1 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1313354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 11770258 JAM2 junctional adhesion molecule 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1343747 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11770258 JAM2 junctional adhesion molecule 2 gene DOID:10652 Alzheimer's disease ISO RGD:1343747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562|PMID:25741868 11770258 JAM2 junctional adhesion molecule 2 gene DOID:3042 allergic contact dermatitis ISO RGD:1615884 D RGD:9068941 20200609 RGD PMID:16297198|REF_RGD_ID:7488919 11770258 JAM2 junctional adhesion molecule 2 gene DOID:630 genetic disease ISO RGD:1343747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770258 JAM2 junctional adhesion molecule 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11770258 JAM2 junctional adhesion molecule 2 gene DOID:9007160 Idiopathic Basal Ganglia Calcification 8 ISO RGD:1343747 D RGD:7240710 20200408 OMIM 11770258 JAM2 junctional adhesion molecule 2 gene DOID:9007160 Idiopathic Basal Ganglia Calcification 8 ISO RGD:1343747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 8, autosomal recessive PMID:26136916|PMID:31851307|PMID:32142645 11770275 DGUOK deoxyguanosine kinase gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1312453 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11770275 DGUOK deoxyguanosine kinase gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:1312453 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:28492532 11770275 DGUOK deoxyguanosine kinase gene DOID:0080121 mitochondrial DNA depletion syndrome 3 ISO RGD:1312453 D RGD:7240710 20180130 OMIM 11770275 DGUOK deoxyguanosine kinase gene DOID:0080121 mitochondrial DNA depletion syndrome 3 ISO RGD:1312453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 3 | ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral PMID:11687800|PMID:11983456|PMID:12205643|PMID:12210798|PMID:14568816|PMID:14623087|PMID:15639197|PMID:15887277|PMID:16263314|PMID:16908739|PMID:17073823|PMID:17452231|PMID:17576681|PMID:18205204|PMID:19103789|PMID:19265691|PMID:22622127|PMID:23043144|PMID:24321534|PMID:25131622|PMID:25741868|PMID:26874653|PMID:27324545|PMID:28492532|PMID:29137425|PMID:30366773|PMID:30589726|PMID:32482602|PMID:9175742|PMID:9536098 11770275 DGUOK deoxyguanosine kinase gene DOID:0111478 combined oxidative phosphorylation deficiency 20 ISO RGD:1312453 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 20 PMID:12205643|PMID:14568816|PMID:16263314|PMID:17073823|PMID:18205204|PMID:19265691|PMID:24321534|PMID:25741868|PMID:28492532 11770275 DGUOK deoxyguanosine kinase gene DOID:0111516 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ISO RGD:1312453 D RGD:7240710 20190315 OMIM 11770275 DGUOK deoxyguanosine kinase gene DOID:0111516 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ISO RGD:1312453 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 PMID:11983456|PMID:16908739|PMID:17073823|PMID:17452231|PMID:18205204|PMID:19125351|PMID:23043144|PMID:24423689|PMID:25326637|PMID:25741868|PMID:26874653|PMID:28492532|PMID:28493820|PMID:29137425|PMID:29228108|PMID:30283818|PMID:30589726|PMID:30956829|PMID:31664448 11770275 DGUOK deoxyguanosine kinase gene DOID:10762 portal hypertension ISO RGD:1312453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11770275 DGUOK deoxyguanosine kinase gene DOID:543 dystonia ISO RGD:1312453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11770275 DGUOK deoxyguanosine kinase gene DOID:630 genetic disease ISO RGD:1312453 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12205643|PMID:14623087|PMID:19103789|PMID:23043144|PMID:25131622|PMID:25326637|PMID:25741868|PMID:27324545|PMID:28492532|PMID:29137425|PMID:29228108|PMID:30283818|PMID:30366773|PMID:30956829|PMID:31664448|PMID:32482602 11770275 DGUOK deoxyguanosine kinase gene DOID:700 mitochondrial metabolism disease susceptibility ISO RGD:1312453 D RGD:9068941 20200609 RGD mitochondrial DNA depletion syndrome, hepatocerebral form, OMIM:251880;DNA:deletion: :204delA PMID:11687800|REF_RGD_ID:1601052 11770275 DGUOK deoxyguanosine kinase gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1312453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11770275 DGUOK deoxyguanosine kinase gene DOID:9000761 Deoxyguanosine Kinase Deficiency ISO RGD:1312453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26342080 11770275 DGUOK deoxyguanosine kinase gene DOID:9001065 Noncirrhotic Portal Hypertension 1 ISO RGD:1312453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Portal hypertension, noncirrhotic, 1 PMID:11983456|PMID:17073823|PMID:17452231|PMID:18205204|PMID:23043144|PMID:26874653|PMID:28492532 11770275 DGUOK deoxyguanosine kinase gene DOID:9002775 Cognitive Dysfunction ISO RGD:1312453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:25741868|PMID:28492532 11770287 THAP8 THAP domain containing 8 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1343379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11770287 THAP8 THAP domain containing 8 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1343379 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11770287 THAP8 THAP domain containing 8 gene DOID:630 genetic disease ISO RGD:1343379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770298 COL20A1 collagen type XX alpha 1 chain gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11770298 COL20A1 collagen type XX alpha 1 chain gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1602872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11770298 COL20A1 collagen type XX alpha 1 chain gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1602872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11770298 COL20A1 collagen type XX alpha 1 chain gene DOID:0081108 keratosis palmoplantaris striata 1 ISO RGD:1602872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma i, striate, focal, or diffuse PMID:29934816 11770298 COL20A1 collagen type XX alpha 1 chain gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1602872 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11770298 COL20A1 collagen type XX alpha 1 chain gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11770298 COL20A1 collagen type XX alpha 1 chain gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1602872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 11770298 COL20A1 collagen type XX alpha 1 chain gene DOID:1826 epilepsy ISO RGD:1602872 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11770298 COL20A1 collagen type XX alpha 1 chain gene DOID:630 genetic disease ISO RGD:1602872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770344 ACTG1 actin gamma 1 gene DOID:0050453 lissencephaly ISO RGD:1312061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:22366783|PMID:25741868|PMID:27240540|PMID:28492532|PMID:29671837 11770344 ACTG1 actin gamma 1 gene DOID:0050563 nonsyndromic deafness ISO RGD:1312061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness PMID:13680526|PMID:19477959|PMID:30311386 11770344 ACTG1 actin gamma 1 gene DOID:0060229 Baraitser-Winter syndrome ISO RGD:1312061 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Baraitser-Winter syndrome PMID:31231230|PMID:32028042 11770344 ACTG1 actin gamma 1 gene DOID:0080205 CAKUT ISO RGD:1312061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:18414213|PMID:22366783|PMID:30143558|PMID:3351890 11770344 ACTG1 actin gamma 1 gene DOID:0081112 Baraitser-Winter syndrome 1 ISO RGD:1312061 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME PMID:31231230|PMID:32028042 11770344 ACTG1 actin gamma 1 gene DOID:0081113 Baraitser-Winter syndrome 2 ISO RGD:1312061 D RGD:7240710 20180130 OMIM 11770344 ACTG1 actin gamma 1 gene DOID:0081113 Baraitser-Winter syndrome 2 ISO RGD:1312061 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2 PMID:14684684|PMID:17576681|PMID:18414213|PMID:19419963|PMID:19548389|PMID:22366783|PMID:24033266|PMID:25052316|PMID:25741868|PMID:26188271|PMID:26467025|PMID:27240540|PMID:28000701|PMID:28492532|PMID:29196752|PMID:29357087|PMID:29620237|PMID:29671837|PMID:29986705|PMID:30008475|PMID:30143558|PMID:30622556|PMID:3351890|PMID:33584783|PMID:33604570|PMID:9536098 11770344 ACTG1 actin gamma 1 gene DOID:0110550 autosomal dominant nonsyndromic deafness 20 ISO RGD:1312061 D RGD:7240710 20180130 OMIM 11770344 ACTG1 actin gamma 1 gene DOID:0110550 autosomal dominant nonsyndromic deafness 20 ISO RGD:1312061 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 20 PMID:12519370|PMID:13680526|PMID:14684684|PMID:16773128|PMID:17576681|PMID:18414213|PMID:19419963|PMID:19477959|PMID:19548389|PMID:20301607|PMID:22366783|PMID:23506231|PMID:24033266|PMID:25052316|PMID:25741868|PMID:25792668|PMID:26188271|PMID:26467025|PMID:27240540|PMID:28000701|PMID:28492532|PMID:29196752|PMID:29357087|PMID:29620237|PMID:29671837|PMID:29907799|PMID:29986705|PMID:30008475|PMID:30311386|PMID:30622556|PMID:31231230|PMID:32028042|PMID:33584783|PMID:35802133|PMID:36633841|PMID:5654493|PMID:9536098 11770344 ACTG1 actin gamma 1 gene DOID:1059 intellectual disability ISO RGD:1312061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11770344 ACTG1 actin gamma 1 gene DOID:10907 microcephaly ISO RGD:1312061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11770344 ACTG1 actin gamma 1 gene DOID:11476 osteoporosis ISO RGD:1312061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 11770344 ACTG1 actin gamma 1 gene DOID:12270 coloboma ISO RGD:1312061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22366783 11770344 ACTG1 actin gamma 1 gene DOID:305 carcinoma ISO RGD:1312061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11770344 ACTG1 actin gamma 1 gene DOID:630 genetic disease ISO RGD:1312061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16773128|PMID:22366783|PMID:24033266|PMID:25741868|PMID:27240540|PMID:28492532 11770344 ACTG1 actin gamma 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1312061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11770344 ACTG1 actin gamma 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1312061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 11770344 ACTG1 actin gamma 1 gene DOID:9004538 Hearing Loss ISO RGD:1312061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:19477959|PMID:20301607|PMID:24033266|PMID:25741868|PMID:25792668|PMID:30311386 11770344 ACTG1 actin gamma 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1312061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11770344 ACTG1 actin gamma 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1312061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22366783 11770344 ACTG1 actin gamma 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1312061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 11770344 ACTG1 actin gamma 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1312061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22366783 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:0080158 herpes simplex virus keratitis ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:16476970|PMID:18798077|REF_RGD_ID:8551819|REF_RGD_ID:8551837 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:0080599 Coronavirus infectious disease ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:11543653|REF_RGD_ID:14401732 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:0080599 Coronavirus infectious disease ISO RGD:733487 D RGD:9068941 20200609 RGD Respiratory Syndrome, Severe Acute; mRNA:increased expression:lung (mouse) PMID:19906920|REF_RGD_ID:4891446 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:0080599 Coronavirus infectious disease ISO RGD:733487 D RGD:9068941 20220825 MouseDO 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:0081267 graft-versus-host disease ISO RGD:733487 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, liver, intestine (mouse) PMID:19571824|REF_RGD_ID:4892067 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:0110759 type 1 diabetes mellitus 22 ISO RGD:1351344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 22 PMID:25741868 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:0110759 type 1 diabetes mellitus 22 susceptibility ISO RGD:1351344 D RGD:7240710 20230517 OMIM 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:10140 dry eye syndrome ISO RGD:1351344 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:conjunctiva, epithelial cell PMID:16682594|REF_RGD_ID:8549761 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:10322 berylliosis disease_progression ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:polymorphisms:5' utr:multiple (human) PMID:20075058|REF_RGD_ID:4892065 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:106 pleural tuberculosis ISO RGD:1351344 D RGD:9068941 20200609 RGD protein:increased expression:pleural fluid, natural killer cell (human) PMID:19159432|REF_RGD_ID:4145106 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:10652 Alzheimer's disease ISO RGD:1351344 D RGD:9068941 20200609 RGD protein:increased expression:brain, microglia (human) PMID:9665462|REF_RGD_ID:4890447 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:10652 Alzheimer's disease ISO RGD:620596 D RGD:9068941 20200609 RGD PMID:15979806|REF_RGD_ID:4890446 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:10763 hypertension ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) PMID:12680626|REF_RGD_ID:1581182 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:10763 hypertension ISO RGD:620596 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta (rat) PMID:20044442|REF_RGD_ID:4890416 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:10952 nephritis ISO RGD:1351344 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26055553 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:11263 chlamydia ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:16118671|REF_RGD_ID:8549760 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:11335 sarcoidosis ISO RGD:1351344 D RGD:9068941 20200609 RGD Lofgren Syndrome; DNA:polymorphisms:5' utr:multiple (human) PMID:18311470|REF_RGD_ID:4892086 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:11382 corneal neovascularization ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:12556387|REF_RGD_ID:734790 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:1210 optic neuritis ISO RGD:1351344 D RGD:9068941 20200609 RGD PMID:11966770|REF_RGD_ID:8551840 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:12132 granulomatosis with polyangiitis ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) PMID:12858455|REF_RGD_ID:4892114 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:12574 posterior uveitis ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation: :p.S185_T195del (rs333) (human) PMID:17417600|REF_RGD_ID:8551817 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:12662 paracoccidioidomycosis ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:18292527|REF_RGD_ID:4892087 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:snps:5' utr:g.-2459A>G, g.-2554G>T (human) PMID:12964123|REF_RGD_ID:4892113 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1351344 D RGD:9068941 20200609 RGD protein:increased expression:blood, monocyte (human) PMID:18439876|REF_RGD_ID:4892079 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:12894 Sjogren's syndrome ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation: :p.S185_T195del (rs333) (human) PMID:12412204|REF_RGD_ID:8551796 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:12894 Sjogren's syndrome no_association ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation: :p.S185_T195del (rs333) (human) PMID:23773920|REF_RGD_ID:8551818 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:12895 keratoconjunctivitis sicca ISO RGD:1351344 D RGD:9068941 20200609 RGD PMID:16159632|REF_RGD_ID:8549757 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:13141 uveitis ISO RGD:620596 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:conjunctiva, ciliary body PMID:19104678|REF_RGD_ID:2306302 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:13241 Behcet's disease ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation: :p.S185_T195del (rs333) (human) PMID:17067435|REF_RGD_ID:8551814 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:13241 Behcet's disease ISO RGD:1351344 D RGD:9068941 20200609 RGD protein:increased expression:blood, T cell (human) PMID:15501397|REF_RGD_ID:4892106 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:13241 Behcet's disease no_association ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation: :p.S185_T195del (rs333) (human) PMID:15009175|REF_RGD_ID:8551827 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:733487 D RGD:9068941 20200609 RGD protein:increased expression:lung, T-helper cell (mouse) PMID:16988274|REF_RGD_ID:4892091 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:13378 Kawasaki disease susceptibility ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation, haplotypes: :p.S185_T195del (rs333) (human) PMID:15962231|REF_RGD_ID:8551815 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:13378 Kawasaki disease susceptibility ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation: :p.S185_T195del (rs333) (human) PMID:17672867|REF_RGD_ID:8551811 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:13378 Kawasaki disease treatment ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:multiple PMID:20628649|REF_RGD_ID:8551812 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:polymorphisms:5' utr:multiple (human) PMID:19679608|REF_RGD_ID:4892066 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:13406 pulmonary sarcoidosis disease_progression ISO RGD:1351344 D RGD:9068941 20200609 RGD protein:altered expression:lung, lymphocyte, macrophage (human) PMID:11790661|REF_RGD_ID:4892099 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:1407 anterior uveitis ISO RGD:620596 D RGD:9068941 20200609 RGD mRNA:increased expression:iris, ciliary body (rat) PMID:15790900|REF_RGD_ID:4890448 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:1555 urticaria ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation, haplotype: :p.S185_T195del (rs333) (human) PMID:23727176|REF_RGD_ID:8551831 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:1612 breast cancer ISO RGD:1351344 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:24301790|REF_RGD_ID:8551816 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:1612 breast cancer disease_progression ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation: :p.S185_T195del (rs333) (human) PMID:14597737|REF_RGD_ID:8551810 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:1686 glaucoma ISO RGD:1351344 D RGD:9068941 20200609 RGD PMID:16159632|REF_RGD_ID:8549757 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:1793 pancreatic cancer ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:19155524|REF_RGD_ID:2317567 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:1824 status epilepticus ISO RGD:620596 D RGD:9068941 20200609 RGD PMID:22248156|REF_RGD_ID:8552226 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:1883 hepatitis C ISO RGD:1351344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HCV, RESISTANCE TO PMID:10520641|PMID:10615909|PMID:10803840|PMID:11081537|PMID:11403804|PMID:11403814|PMID:11517319|PMID:11781692|PMID:12874407|PMID:15744032|PMID:15863470|PMID:16216086|PMID:16248677|PMID:16418398|PMID:19017985|PMID:19073967|PMID:28492532|PMID:8639485|PMID:8751444|PMID:8756719|PMID:9055842|PMID:9132277|PMID:9140404|PMID:9207783|PMID:9466996|PMID:9511755|PMID:9585595|PMID:9600249|PMID:9768627 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:1883 hepatitis C no_association ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:deletion:cds: PMID:14673528|REF_RGD_ID:14401731 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:1883 hepatitis C susceptibility ISO RGD:1351344 D RGD:7240710 20230517 OMIM 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:1936 atherosclerosis treatment ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:16763157|REF_RGD_ID:8549763 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:1962 fallopian tube disease ISO RGD:1351344 D RGD:9068941 20200609 RGD associated with Chlamydia Infections;DNA:frameshift mutation: :p.S185_T195del (rs333) (human) PMID:16118671|REF_RGD_ID:8549760 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:2043 hepatitis B disease_progression ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:59029A>G,59353C>T PMID:17063508|REF_RGD_ID:14401727 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:2043 hepatitis B susceptibility ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:SNP: : rs1799987(human) PMID:29239247|REF_RGD_ID:14401574 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:2043 hepatitis B susceptibility ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:polymorphism: :DNA:deletion:Cds: PMID:27892677|REF_RGD_ID:14401575 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:2316 brain ischemia ISO RGD:620596 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (rat) PMID:9670989|REF_RGD_ID:632396 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:2349 arteriosclerosis ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:17138939|REF_RGD_ID:4890431 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:2366 West Nile fever ISO RGD:1351344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: West Nile virus, susceptibility to PMID:10520641|PMID:10615909|PMID:10803840|PMID:11081537|PMID:11403804|PMID:11403814|PMID:11517319|PMID:11781692|PMID:12874407|PMID:15744032|PMID:15863470|PMID:16216086|PMID:16248677|PMID:16418398|PMID:19017985|PMID:19073967|PMID:28492532|PMID:8639485|PMID:8751444|PMID:8756719|PMID:9055842|PMID:9132277|PMID:9140404|PMID:9207783|PMID:9466996|PMID:9511755|PMID:9585595|PMID:9600249|PMID:9768627 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:2366 West Nile fever susceptibility ISO RGD:1351344 D RGD:7240710 20230517 OMIM 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:2377 multiple sclerosis ISO RGD:1351344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple sclerosis modifier of disease progression PMID:10520641|PMID:10615909|PMID:10803840|PMID:11081537|PMID:11403804|PMID:11403814|PMID:11517319|PMID:11781692|PMID:12874407|PMID:15744032|PMID:15863470|PMID:16216086|PMID:16248677|PMID:16418398|PMID:19017985|PMID:19073967|PMID:28492532|PMID:8639485|PMID:8751444|PMID:8756719|PMID:9055842|PMID:9132277|PMID:9140404|PMID:9207783|PMID:9466996|PMID:9511755|PMID:9585595|PMID:9600249|PMID:9768627 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:2518 orchitis severity ISO RGD:620596 D RGD:9068941 20200609 RGD PMID:22351899|REF_RGD_ID:6767571 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:2841 asthma ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) PMID:20220260|REF_RGD_ID:4145638 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:2841 asthma ISO RGD:1351344 D RGD:9068941 20200609 RGD protein:decreased expression:blood, lymphocyte (human) PMID:15256090|REF_RGD_ID:4892108 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:2841 asthma ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:16474097|REF_RGD_ID:4892093 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:2841 asthma ISO RGD:733487 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:18094012|REF_RGD_ID:4892088 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:2841 asthma no_association ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:polymorphism, frameshift mutation: :-59029G>A, p.S185_T195del (rs333) (human) PMID:23454776|REF_RGD_ID:8551842 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:2957 pulmonary tuberculosis ISO RGD:1351344 D RGD:9068941 20200609 RGD protein:decreased expression:blood, T cell (human) PMID:16379602|REF_RGD_ID:4892094 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:3021 acute kidney failure ISO RGD:1351344 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26055553 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:3042 allergic contact dermatitis ISO RGD:620596 D RGD:9068941 20200609 RGD mRNA:increased expression:skin, lymph node (rat) PMID:16977379|REF_RGD_ID:2325935 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:3082 interstitial lung disease ISO RGD:1351344 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic; protein:increased expression:blood, T cell (human) PMID:18383361|REF_RGD_ID:4892085 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1351344 D RGD:9068941 20200609 RGD protein:increased expression:blood (human) PMID:19229703|REF_RGD_ID:4892070 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:3121 gallbladder cancer onset ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) PMID:18405329|REF_RGD_ID:2317570 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:3310 atopic dermatitis ISO RGD:1351344 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:3310 atopic dermatitis ISO RGD:1351344 D RGD:9068941 20200609 RGD PMID:16449815|REF_RGD_ID:6893391 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:3393 coronary artery disease ISO RGD:620596 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (rat) PMID:17449418|REF_RGD_ID:4890438 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:3482 plague resistance ISO RGD:620596 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.H184R (rat) PMID:18703167|REF_RGD_ID:4890425 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:3526 cerebral infarction ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:23602964|REF_RGD_ID:8552262 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:3770 pulmonary fibrosis ISO RGD:1351344 D RGD:9068941 20200609 RGD protein:decreased expression:lung, lymphocyte (human) PMID:15802346|REF_RGD_ID:4892101 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:3770 pulmonary fibrosis ISO RGD:733487 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:19762220|REF_RGD_ID:4145622 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:4001 ovarian carcinoma ISO RGD:1351344 D RGD:9068941 20200609 RGD protein:increased expression:peritoneal fluid, leukocyte (human) PMID:11948121|REF_RGD_ID:4892092 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:4166 syphilis ISO RGD:1351344 D RGD:9068941 20200609 RGD PMID:18008231|REF_RGD_ID:8551830 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1351344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, increased perinatal transmission of | ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:10520641|PMID:10559343|PMID:10615909|PMID:10803840|PMID:11081537|PMID:11369664|PMID:11403804|PMID:11403814|PMID:11517319|PMID:11781692|PMID:12610055|PMID:12815099|PMID:12874407|PMID:15744032|PMID:15863470|PMID:16216086|PMID:16248677|PMID:16418398|PMID:19017985|PMID:19073967|PMID:28492532|PMID:33116287|PMID:8639485|PMID:8751444|PMID:8756719|PMID:9055842|PMID:9132277|PMID:9140404|PMID:9207783|PMID:9399903|PMID:9433423|PMID:9466996|PMID:9511755|PMID:9585595|PMID:9600249|PMID:9742978|PMID:9768627 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:526 human immunodeficiency virus infectious disease susceptibility ISO RGD:1351344 D RGD:7240710 20230517 OMIM 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:552 pneumonia ISO RGD:733487 D RGD:9068941 20200609 RGD Idiopathic Pneumonia Syndrome; mRNA:increased expression:lung (mouse) PMID:15546955|REF_RGD_ID:4892103 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:630 genetic disease ISO RGD:1351344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:635 acquired immunodeficiency syndrome ISO RGD:1351344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, delayed progression to PMID:12610055|PMID:12815099|PMID:9742978 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple (human) PMID:16775617|REF_RGD_ID:1626284 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:676 juvenile rheumatoid arthritis no_association ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) PMID:17565662|REF_RGD_ID:1626283 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:7148 rheumatoid arthritis no_association ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) PMID:17565662|REF_RGD_ID:1626283 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:7148 rheumatoid arthritis resistance ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) PMID:16541097|REF_RGD_ID:1626290 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:783 end stage renal disease ISO RGD:620596 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney cortex (rat) PMID:19535570|REF_RGD_ID:4889989 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:8893 psoriasis ISO RGD:1351344 D RGD:9068941 20200609 RGD protein:decreased expression:T cell PMID:23954573|REF_RGD_ID:8551838 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:8947 diabetic retinopathy ISO RGD:733487 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22677420|REF_RGD_ID:8551828 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1351344 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;mRNA:increased expression:lymph node PMID:24301790|REF_RGD_ID:8551816 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9000528 Coronary Disease resistance ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:polymorphisms:multiple (human) PMID:16055130|REF_RGD_ID:1581176 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9000918 Disease Progression ISO RGD:1351344 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35072892 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1351344 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35072892 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9000972 Fever ISO RGD:620596 D RGD:9068941 20200609 RGD PMID:15066130|REF_RGD_ID:2307192 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9000972 Fever ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:23999490|REF_RGD_ID:8552232 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9000998 Brain Injuries ISO RGD:620596 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:24344922|REF_RGD_ID:8552265 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9001488 Human Influenza ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:18617426|PMID:19039768|REF_RGD_ID:4892119|REF_RGD_ID:4892122 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9001488 Human Influenza severity ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) PMID:20875295|REF_RGD_ID:4892063 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733487 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver PMID:19603542|REF_RGD_ID:14401743 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:19603542|REF_RGD_ID:14401743 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9002056 Arterial Injury ISO RGD:620596 D RGD:9068941 20200609 RGD PMID:22292067|REF_RGD_ID:8552233 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351344 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :59029G>A (human) PMID:17428349|REF_RGD_ID:8549756 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:1351344 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:59029G>A (human) PMID:12610055|REF_RGD_ID:2307107 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9002170 Experimental Neoplasms ISO RGD:1351344 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35072892 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9002211 Hyperalgesia ISO RGD:620596 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries PMID:24589480|REF_RGD_ID:8551795 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9002211 Hyperalgesia ISO RGD:620596 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal root ganglion (rat) PMID:18076762|REF_RGD_ID:4890034 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9002211 Hyperalgesia ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:22033364|PMID:23147416|REF_RGD_ID:8551809|REF_RGD_ID:8551820 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9002457 Experimental Arthritis ISO RGD:620596 D RGD:9068941 20200609 RGD mRNA:increased expression:ankle (rat) PMID:14674010|REF_RGD_ID:1582346 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:620596 D RGD:9068941 20200609 RGD PMID:22289897|REF_RGD_ID:5687744 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9002467 Mycoplasma Infections ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) PMID:17445875|REF_RGD_ID:4892129 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:620596 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord, macrophage, microglia (rat) PMID:17484785|REF_RGD_ID:4890436 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1351344 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9003036 Oral Lichen Planus ISO RGD:1351344 D RGD:9068941 20200609 RGD protein:increased expression:blood, T cell PMID:23490419|REF_RGD_ID:8551821 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:1351344 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal mucosa (human) PMID:17982926|REF_RGD_ID:4145109 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620596 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral hemisphere (rat) PMID:16516309|REF_RGD_ID:4890442 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:23391218|REF_RGD_ID:8551839 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:deletion:cds: PMID:12055576|REF_RGD_ID:14401729 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:deletion:cds: PMID:12873822|REF_RGD_ID:14401737 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9004283 Transplant Rejection ISO RGD:620596 D RGD:9068941 20200609 RGD PMID:23498802|REF_RGD_ID:8552228 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9004283 Transplant Rejection treatment ISO RGD:620596 D RGD:9068941 20200609 RGD PMID:23446583|REF_RGD_ID:8552231 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9004545 Birth Injuries ISO RGD:620596 D RGD:9068941 20200609 RGD mRNA:increased expression:multiple organs (rat) PMID:18554634|REF_RGD_ID:4890426 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9005175 Ulcer ISO RGD:1351344 D RGD:9068941 20200609 RGD associated with Herpes Genitalis PMID:18008231|REF_RGD_ID:8551830 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1351344 D RGD:9068941 20200609 RGD PMID:14597737|PMID:22637726|REF_RGD_ID:8551810|REF_RGD_ID:8551813 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9005372 Inflammation ISO RGD:620596 D RGD:9068941 20200609 RGD associated with Arthritis, Experimental; protein:increased expression:synovial tissue, macrophage (rat) PMID:16320322|REF_RGD_ID:4144893 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620596 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:21575160|REF_RGD_ID:11533943 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9006741 Acute Hepatitis disease_progression ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:16175603|REF_RGD_ID:14401740 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9006944 Alcoholic Fatty Liver disease_progression ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:27859576|REF_RGD_ID:14401742 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9007090 Experimental Seizures treatment ISO RGD:620596 D RGD:9068941 20230128 RGD PMID:20940264|REF_RGD_ID:4889880 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:733487 D RGD:9068941 20200609 RGD acetaminophen PMID:24770590|REF_RGD_ID:14401733 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1351344 D RGD:9068941 20200609 RGD protein:decreased expression:blood, monocyte (human) PMID:15786508|REF_RGD_ID:4892017 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:620596 D RGD:9068941 20200609 RGD PMID:23456481|REF_RGD_ID:8552227 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9008225 Respirovirus Infections ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:17641009|REF_RGD_ID:4892127 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351344 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35072892 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9008551 Flaviviridae Infections ISO RGD:1351344 D RGD:9068941 20200609 RGD associated with hepatitis G virus infection; protein:decreased expression: T lymphocyte:hepatitis G virus infection PMID:12824783|REF_RGD_ID:14401734 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9008691 Liver Injury ISO RGD:620596 D RGD:9068941 20200609 RGD PMID:24205332|REF_RGD_ID:8552264 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9065 leishmaniasis ISO RGD:1351344 D RGD:9068941 20200609 RGD associated with HIV Infections;protein:increased expression:blood, T cell PMID:17457607|REF_RGD_ID:8551841 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9065 leishmaniasis disease_progression ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:10553079|REF_RGD_ID:8551832 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9074 systemic lupus erythematosus ISO RGD:1351344 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, mononuclear cell PMID:21180278|REF_RGD_ID:6893428 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9111 cutaneous leishmaniasis ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation: :p.S185_T195del (rs333) (human) PMID:23632983|REF_RGD_ID:8549764 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9111 cutaneous leishmaniasis no_association ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation: :p.S185_T195del (rs333) (human) PMID:17214851|REF_RGD_ID:8549765 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9146 visceral leishmaniasis treatment ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:24617012|REF_RGD_ID:14401738 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351344 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:17966842|REF_RGD_ID:2307064 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:620596 D RGD:9068941 20200609 RGD PMID:23063706|REF_RGD_ID:8552229 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9675 pulmonary emphysema ISO RGD:1351344 D RGD:9068941 20200609 RGD protein:increased expression:lung, lymphocyte (human) PMID:15526056|REF_RGD_ID:4892104 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9675 pulmonary emphysema ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:17883726|REF_RGD_ID:4892090 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9675 pulmonary emphysema ISO RGD:733487 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (mouse) PMID:16284650|REF_RGD_ID:4892098 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1351344 D RGD:9068941 20200609 RGD protein:decreased expression:blood, mononuclear cell PMID:12145160|REF_RGD_ID:2317571 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9744 type 1 diabetes mellitus ISO RGD:620596 D RGD:9068941 20200609 RGD mRNA:increased expression:splenocyte (rat) PMID:15240727|REF_RGD_ID:4890459 11770354 CCR5 C-C motif chemokine receptor 5 gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation: :p.S185_T195del (rs333) (human) PMID:23773920|REF_RGD_ID:8551818 11770363 CD79A CD79a molecule gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1346600 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25049379 11770363 CD79A CD79a molecule gene DOID:0080600 COVID-19 ISO RGD:1346600 D RGD:9068941 20200709 RGD mRNA:decreased expression:antibody secreting B cells (human) PMID:32377375|REF_RGD_ID:32716422 11770363 CD79A CD79a molecule gene DOID:0081136 agammaglobulinemia 1 ISO RGD:1346600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 PMID:25741868|PMID:28492532 11770363 CD79A CD79a molecule gene DOID:0081137 agammaglobulinemia 3 ISO RGD:1346600 D RGD:7240710 20190327 OMIM 11770363 CD79A CD79a molecule gene DOID:0081137 agammaglobulinemia 3 ISO RGD:1346600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive PMID:10525050|PMID:11920841|PMID:16199547|PMID:17576681|PMID:24481606|PMID:24728327|PMID:25741868|PMID:28492532|PMID:33046446|PMID:9536098 11770363 CD79A CD79a molecule gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1346600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11770363 CD79A CD79a molecule gene DOID:1342 congenital hypoplastic anemia ISO RGD:1346600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11770363 CD79A CD79a molecule gene DOID:2340 craniosynostosis ISO RGD:1346600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11770363 CD79A CD79a molecule gene DOID:2583 agammaglobulinemia ISO RGD:1346600 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11770363 CD79A CD79a molecule gene DOID:5419 schizophrenia ISO RGD:1346600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11770363 CD79A CD79a molecule gene DOID:612 primary immunodeficiency disease ISO RGD:1346600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11770363 CD79A CD79a molecule gene DOID:630 genetic disease ISO RGD:1346600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11770363 CD79A CD79a molecule gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1346600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11770363 CD79A CD79a molecule gene DOID:9269 maple syrup urine disease ISO RGD:1346600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11770374 DBT dihydrolipoamide branched chain transacylase E2 gene DOID:630 genetic disease ISO RGD:68592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 11770374 DBT dihydrolipoamide branched chain transacylase E2 gene DOID:9005672 Maple Syrup Urine Disease, Type 2 ISO RGD:68592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intermediate maple syrup urine disease type 2 | ClinVar Annotator: match by term: Maple syrup urine disease type 2 | ClinVar Annotator: match by term: Maple syrup urine disease, thiamine-responsive, type II PMID:14508502|PMID:14517957|PMID:14742428|PMID:16468966|PMID:16579849|PMID:16786533|PMID:17576681|PMID:18378174|PMID:1847055|PMID:1943690|PMID:19823873|PMID:1990841|PMID:2010537|PMID:20639189|PMID:24772966|PMID:25741868|PMID:26257134|PMID:27578510|PMID:28417071|PMID:28492532|PMID:28497172|PMID:31319225|PMID:31980395|PMID:32812330|PMID:8430702|PMID:9239422|PMID:9536098|PMID:9621512 11770374 DBT dihydrolipoamide branched chain transacylase E2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:68592 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11770374 DBT dihydrolipoamide branched chain transacylase E2 gene DOID:9269 maple syrup urine disease ISO RGD:68592 D RGD:7240710 20180130 OMIM 11770374 DBT dihydrolipoamide branched chain transacylase E2 gene DOID:9269 maple syrup urine disease ISO RGD:68592 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:11112664|PMID:14517957|PMID:1547285|PMID:16199547|PMID:16468966|PMID:16579849|PMID:16786533|PMID:17576681|PMID:18378174|PMID:1847055|PMID:19480318|PMID:19823873|PMID:20570198|PMID:20639189|PMID:21098507|PMID:22090376|PMID:23313820|PMID:23757202|PMID:24033266|PMID:24394677|PMID:24772966|PMID:25255367|PMID:25525159|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26589311|PMID:27243974|PMID:27518768|PMID:28417071|PMID:28492532|PMID:28497172|PMID:30228974|PMID:31119508|PMID:32193832|PMID:32812330|PMID:33123633|PMID:8430702|PMID:9239422|PMID:9536098|PMID:9621512 11770374 DBT dihydrolipoamide branched chain transacylase E2 gene DOID:9269 maple syrup urine disease ISO RGD:68592 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:11112664|PMID:14508502|PMID:14517957|PMID:14741190|PMID:1547285|PMID:16199547|PMID:16468966|PMID:16579849|PMID:16786533|PMID:17576681|PMID:18378174|PMID:1847055|PMID:19480318|PMID:19823873|PMID:20307994|PMID:20570198|PMID:20639189|PMID:21098507|PMID:22090376|PMID:23757202|PMID:24033266|PMID:24268812|PMID:24304607|PMID:24394677|PMID:24772966|PMID:25255367|PMID:25525159|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26453840|PMID:26589311|PMID:27243974|PMID:27518768|PMID:27578510|PMID:28417071|PMID:28492532|PMID:28497172|PMID:30228974|PMID:31112740|PMID:31119508|PMID:31980395|PMID:32193832|PMID:32778825|PMID:32812330|PMID:33123633|PMID:33131499|PMID:33868929|PMID:34069211|PMID:8430702|PMID:9239422|PMID:9536098|PMID:9621512 11770393 TRMU tRNA mitochondrial 2-thiouridylase gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1322577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11770393 TRMU tRNA mitochondrial 2-thiouridylase gene DOID:0080716 infantile liver failure syndrome ISO RGD:1322577 D RGD:9068941 20200609 RGD DNA:mutations:multiple PMID:19732863|REF_RGD_ID:25440486 11770393 TRMU tRNA mitochondrial 2-thiouridylase gene DOID:0080778 transient infantile liver failure ISO RGD:1322577 D RGD:7240710 20180130 OMIM 11770393 TRMU tRNA mitochondrial 2-thiouridylase gene DOID:0080778 transient infantile liver failure ISO RGD:1322577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT PMID:16199547|PMID:17576681|PMID:19732863|PMID:21153446|PMID:21169334|PMID:21931168|PMID:23625533|PMID:25326635|PMID:25326637|PMID:25665837|PMID:25741868|PMID:26633542|PMID:28049726|PMID:28252636|PMID:28492532|PMID:28973083|PMID:30369941|PMID:30740308|PMID:31160058|PMID:33365252|PMID:33485800|PMID:8817331|PMID:9536098 11770393 TRMU tRNA mitochondrial 2-thiouridylase gene DOID:0111734 aminoglycoside-induced deafness ISO RGD:1322577 D RGD:7240710 20180130 OMIM 11770393 TRMU tRNA mitochondrial 2-thiouridylase gene DOID:0111734 aminoglycoside-induced deafness ISO RGD:1322577 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aminoglycoside-induced deafness | ClinVar Annotator: match by term: Deafness, mitochondrial, modifier of PMID:16199547|PMID:19732863|PMID:21931168|PMID:23625533|PMID:25665837|PMID:25741868|PMID:28049726|PMID:28492532|PMID:31160058|PMID:8817331 11770393 TRMU tRNA mitochondrial 2-thiouridylase gene DOID:1059 intellectual disability ISO RGD:1322577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11770393 TRMU tRNA mitochondrial 2-thiouridylase gene DOID:2843 long QT syndrome ISO RGD:1322577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11770393 TRMU tRNA mitochondrial 2-thiouridylase gene DOID:409 liver disease ISO RGD:1619985 D RGD:9068941 20220825 MouseDO 11770393 TRMU tRNA mitochondrial 2-thiouridylase gene DOID:630 genetic disease ISO RGD:1322577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19732863|PMID:21931168|PMID:23625533|PMID:25326635|PMID:25665837|PMID:25741868|PMID:28492532|PMID:28973083|PMID:31160058 11770393 TRMU tRNA mitochondrial 2-thiouridylase gene DOID:9004212 Mitochondrial Myopathy, Lethal Infantile ISO RGD:1322577 D RGD:9068941 20200609 RGD DNA:mutations:multiple PMID:23625533|REF_RGD_ID:21066346 11770441 KCTD18 potassium channel tetramerization domain containing 18 gene DOID:630 genetic disease ISO RGD:1346294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770441 KCTD18 potassium channel tetramerization domain containing 18 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1346294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 11770441 KCTD18 potassium channel tetramerization domain containing 18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11770452 ARHGAP35 Rho GTPase activating protein 35 gene DOID:0060673 Peters anomaly ISO RGD:1603059 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:25741868|PMID:36450800 11770452 ARHGAP35 Rho GTPase activating protein 35 gene DOID:0111586 Martsolf syndrome 1 ISO RGD:1603059 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:25741868 11770452 ARHGAP35 Rho GTPase activating protein 35 gene DOID:10629 microphthalmia ISO RGD:1603059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bilateral microphthalmos | ClinVar Annotator: match by term: Unilateral microphthalmos PMID:25741868|PMID:36450800 11770452 ARHGAP35 Rho GTPase activating protein 35 gene DOID:3910 lung adenocarcinoma ISO RGD:1603059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 11770452 ARHGAP35 Rho GTPase activating protein 35 gene DOID:630 genetic disease ISO RGD:1603059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770452 ARHGAP35 Rho GTPase activating protein 35 gene DOID:9002049 Anophthalmia ISO RGD:1603059 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anophthalmia PMID:25741868|PMID:36450800 11770452 ARHGAP35 Rho GTPase activating protein 35 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603059 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33057194 11770462 SCP2D1 SCP2 sterol binding domain containing 1 gene DOID:630 genetic disease ISO RGD:1318122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:0050908 myelodysplastic syndrome ISO RGD:1348731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17294728 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:0050908 myelodysplastic syndrome ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:altered methylation: : PMID:20658957|REF_RGD_ID:11251750 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:hypermethylation: : PMID:23683424|REF_RGD_ID:11252195 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:0050908 myelodysplastic syndrome treatment ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:altered methylation:promoter: PMID:17611569|REF_RGD_ID:11252169 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:0060058 lymphoma ISO RGD:1348731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9488045 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma disease_progression ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:deletion (human) PMID:20118908|REF_RGD_ID:8552306 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:0060318 acute promyelocytic leukemia disease_progression ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:hyprmethylation:promoter: PMID:12750706|REF_RGD_ID:11252187 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:0080188 chronic myelomonocytic leukemia ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:altered methylation:5'UTR: PMID:12750705|REF_RGD_ID:11252180 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:0081082 acute myelomonocytic leukemia ISO RGD:731792 D RGD:9068941 20200609 RGD PMID:14681685|REF_RGD_ID:11252167 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:10283 prostate cancer disease_progression ISO RGD:1348731 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:16799475|REF_RGD_ID:2289684 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:1037 lymphoid leukemia ISO RGD:731792 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:10602427|REF_RGD_ID:11252194 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:1067 open-angle glaucoma disease_progression ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:SNP: :rs1063192 (human) PMID:22840486|REF_RGD_ID:8548689 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:deletion PMID:16624482|REF_RGD_ID:7248757 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:deletion:urinary bladder PMID:15590562|REF_RGD_ID:2289696 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:1380 endometrial cancer ISO RGD:2324 D RGD:9068941 20200609 RGD DNA:deletion (rat) PMID:18558284|REF_RGD_ID:2316081 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:1686 glaucoma ISO RGD:1348731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21532571 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:1749 squamous cell carcinoma ISO RGD:1348731 D RGD:9068941 20200609 RGD protein:decreased expression:skin PMID:18564286|REF_RGD_ID:8548686 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:2671 transitional cell carcinoma ISO RGD:1348731 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder PMID:11720438|REF_RGD_ID:2289697 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:2999 granulosa cell tumor ISO RGD:1348731 D RGD:9068941 20200609 RGD PMID:12203782|REF_RGD_ID:2296066 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:3070 high grade glioma ISO RGD:1348731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578366|PMID:19578367 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:3393 coronary artery disease ISO RGD:1348731 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:23104008|PMID:34961328 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:SNPs: :rs615552, rs573687 (human) PMID:23361049|REF_RGD_ID:7248756 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:11445839|REF_RGD_ID:13673922 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:4450 renal cell carcinoma ISO RGD:2324 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity, deletion PMID:10391689|REF_RGD_ID:7248758 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:5419 schizophrenia ISO RGD:1348731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:630 genetic disease ISO RGD:1348731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:684 hepatocellular carcinoma ISO RGD:1348731 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:6846 familial melanoma ISO RGD:1348731 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532|PMID:9622062 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:8743 erythema infectiosum ISO RGD:1348731 D RGD:9068941 20200609 RGD associated with Leukemia, Myeloid, Acute;DNA:hypermethylation:promoter: PMID:18384396|REF_RGD_ID:11252189 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1348731 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17632454|REF_RGD_ID:2289695 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:9000046 Poisoning ISO RGD:1348731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20044985 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:9000528 Coronary Disease ISO RGD:1348731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Three Vessel Coronary Disease 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:9002762 Ovarian Neoplasms ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA, mRNA:hypermethylation, decreased expression:promoter, ovary PMID:16000597|REF_RGD_ID:2296065 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1348731 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17632454|REF_RGD_ID:2289695 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:9003566 Mesothelioma ISO RGD:2324 D RGD:9068941 20200609 RGD DNA:deletion PMID:20065947|REF_RGD_ID:7248760 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:9005873 Tongue Neoplasms ISO RGD:2324 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity PMID:16527513|REF_RGD_ID:1578522 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:9007188 Liver Neoplasms ISO RGD:1348731 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:9007715 Endometrial Neoplasms ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:SNPs: :rs615552, rs573687 (human) PMID:23361049|REF_RGD_ID:7248756 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:9119 acute myeloid leukemia ISO RGD:1348731 D RGD:9068941 20200609 RGD mRNA:decreased expression:granulocyte,monocyte: PMID:9001419|REF_RGD_ID:11252196 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:9119 acute myeloid leukemia ISO RGD:731792 D RGD:9068941 20200609 RGD PMID:14681685|REF_RGD_ID:11252167 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:11064355|REF_RGD_ID:11251749 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:15863205|REF_RGD_ID:11252161 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:hypermethylation: : PMID:25616284|REF_RGD_ID:11251739 11770467 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:27168825|REF_RGD_ID:11252164 11770479 PRLH prolactin releasing hormone gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1352450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11770479 PRLH prolactin releasing hormone gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1352450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11770479 PRLH prolactin releasing hormone gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1352450 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11770479 PRLH prolactin releasing hormone gene DOID:1059 intellectual disability ISO RGD:1352450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11770479 PRLH prolactin releasing hormone gene DOID:630 genetic disease ISO RGD:1352450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770479 PRLH prolactin releasing hormone gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1352450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11770479 PRLH prolactin releasing hormone gene DOID:9970 obesity ISO RGD:1617091 D RGD:9068941 20220825 MouseDO OMIM:601665 11770479 PRLH prolactin releasing hormone gene DOID:9970 obesity ISO RGD:628634 D RGD:9068941 20200609 RGD PMID:15854142|REF_RGD_ID:1641829 11770484 TBC1D15 TBC1 domain family member 15 gene DOID:630 genetic disease ISO RGD:1317393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770515 TMEM106A transmembrane protein 106A gene DOID:0080600 COVID-19 ISO RGD:1603282 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11770515 TMEM106A transmembrane protein 106A gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:19894111|PMID:23996866|PMID:24686251|PMID:28492532 11770515 TMEM106A transmembrane protein 106A gene DOID:630 genetic disease ISO RGD:1603282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770515 TMEM106A transmembrane protein 106A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603282 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11770551 TYK2 tyrosine kinase 2 gene DOID:0080600 COVID-19 ISO RGD:1316192 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:33307546 11770551 TYK2 tyrosine kinase 2 gene DOID:0111989 immunodeficiency 35 ISO RGD:1316192 D RGD:7240710 20180130 OMIM 11770551 TYK2 tyrosine kinase 2 gene DOID:0111989 immunodeficiency 35 ISO RGD:1316192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 35 | ClinVar Annotator: match by term: Susceptibility to infection due to TYK2 deficiency PMID:16199547|PMID:17088085|PMID:17576681|PMID:21680795|PMID:22402565|PMID:24033266|PMID:25388448|PMID:25741868|PMID:25849893|PMID:26288847|PMID:26304966|PMID:27615517|PMID:27872624|PMID:28492532|PMID:29725107|PMID:30578352|PMID:31118190|PMID:32537443|PMID:33260630|PMID:33667394|PMID:34569645|PMID:35708626|PMID:9536098 11770551 TYK2 tyrosine kinase 2 gene DOID:12236 primary biliary cholangitis ISO RGD:1316192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22961000 11770551 TYK2 tyrosine kinase 2 gene DOID:12849 autistic disorder ISO RGD:1316192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20957522 11770551 TYK2 tyrosine kinase 2 gene DOID:2377 multiple sclerosis ISO RGD:1316192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19525955 11770551 TYK2 tyrosine kinase 2 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1316192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23471820 11770551 TYK2 tyrosine kinase 2 gene DOID:630 genetic disease ISO RGD:1316192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11770551 TYK2 tyrosine kinase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1316192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596|PMID:30224649 11770551 TYK2 tyrosine kinase 2 gene DOID:8778 Crohn's disease ISO RGD:1316192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 11770551 TYK2 tyrosine kinase 2 gene DOID:8893 psoriasis ISO RGD:1316192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953190 11770551 TYK2 tyrosine kinase 2 gene DOID:9004890 Paranoid Disorders ISO RGD:1316192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 11770551 TYK2 tyrosine kinase 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1316192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 11770551 TYK2 tyrosine kinase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1316192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Virus-induced diabetes PMID:26288847 11770551 TYK2 tyrosine kinase 2 gene DOID:9970 obesity ISO RGD:1316193 D RGD:9068941 20220825 MouseDO OMIM:601665 11770601 RNF139 ring finger protein 139 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1315417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11770601 RNF139 ring finger protein 139 gene DOID:4450 renal cell carcinoma ISO RGD:1315417 D RGD:7240710 20180130 OMIM 11770601 RNF139 ring finger protein 139 gene DOID:630 genetic disease ISO RGD:1315417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770606 ZNF831 zinc finger protein 831 gene DOID:0080600 COVID-19 ISO RGD:1316121 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11770606 ZNF831 zinc finger protein 831 gene DOID:1909 melanoma ISO RGD:1316121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 11770606 ZNF831 zinc finger protein 831 gene DOID:630 genetic disease ISO RGD:1316121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770616 RPL26L1 ribosomal protein L26 like 1 gene DOID:0080600 COVID-19 ISO RGD:1352940 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11770616 RPL26L1 ribosomal protein L26 like 1 gene DOID:0110112 atrial heart septal defect 7 ISO RGD:1352940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 11770616 RPL26L1 ribosomal protein L26 like 1 gene DOID:630 genetic disease ISO RGD:1352940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770616 RPL26L1 ribosomal protein L26 like 1 gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:1352940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 11770634 YLPM1 YLP motif containing 1 gene DOID:1059 intellectual disability ISO RGD:1351286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11770634 YLPM1 YLP motif containing 1 gene DOID:2661 myoepithelioma ISO RGD:1351286 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11770634 YLPM1 YLP motif containing 1 gene DOID:630 genetic disease ISO RGD:1351286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770659 TSPAN10 tetraspanin 10 gene DOID:630 genetic disease ISO RGD:1602455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:0050456 Buruli ulcer disease ISO RGD:736532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Buruli ulcer, susceptibility to PMID:16395392 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:0050456 Buruli ulcer disease susceptibility ISO RGD:736532 D RGD:7240710 20190502 OMIM 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:point mutation:promoter:-237C>T (human) PMID:16059695|REF_RGD_ID:5684952 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphisms: :1730G>A (human) PMID:21128323|REF_RGD_ID:5684929 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:0060180 colitis ISO RGD:736533 D RGD:9068941 20200609 RGD PMID:19016783|REF_RGD_ID:5684975 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:0060704 lymphoproliferative syndrome ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:deletion:3' utr:*55_*58delTGTG (human) PMID:16734634|REF_RGD_ID:5684949 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:736532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:0080176 meningococcal meningitis ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:736532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:736532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:1024 leprosy ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:1024 leprosy ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype (human) PMID:10608779|REF_RGD_ID:5684972 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:1024 leprosy susceptibility ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:repeat:promoter (human) PMID:15755200|REF_RGD_ID:5684957 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:repeat, polymorphism:promoter, cds:p.D543N (human) PMID:16516037|REF_RGD_ID:5684951 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:11335 sarcoidosis ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:11335 sarcoidosis ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:repeat, SNP:promoter, intron (human) PMID:22160516|REF_RGD_ID:5684925 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:13241 Behcet's disease ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:18998137|REF_RGD_ID:5684936 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:13622 campylobacteriosis ISO RGD:736533 D RGD:9068941 20200609 RGD PMID:18656410|REF_RGD_ID:5684976 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:2377 multiple sclerosis ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:2377 multiple sclerosis ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:repeat:promoter (human) PMID:18973068|REF_RGD_ID:5684937 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:2377 multiple sclerosis no_association ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:repeat, polymorphism, deletions:promoter, cds:p.D543N (human) PMID:15584484|REF_RGD_ID:5684960 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:2841 asthma ISO RGD:736533 D RGD:9068941 20200609 RGD PMID:12847242|REF_RGD_ID:5684966 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:21169917|REF_RGD_ID:5684974 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:736532 D RGD:9068941 20200716 RGD DNA:deletion:3'UTR: PMID:24024195|REF_RGD_ID:36049753 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:3021 acute kidney failure ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:3044 food allergy ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:3310 atopic dermatitis ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:399 tuberculosis ISO RGD:736532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to | ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to infection by PMID:16103355|PMID:25741868 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:399 tuberculosis susceptibility ISO RGD:736532 D RGD:7240710 20190502 OMIM 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:418 systemic scleroderma ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:repeat, polymorphism:promoter, intron: (human) PMID:17876529|REF_RGD_ID:5684940 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:736532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:630 genetic disease ISO RGD:736532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:repeat:promoter (human) PMID:10857800|REF_RGD_ID:5684977 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:7148 rheumatoid arthritis ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:7148 rheumatoid arthritis ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphisms, deletion: :823C>T, p.D543N (human) PMID:10719815|REF_RGD_ID:5684971 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:7148 rheumatoid arthritis severity ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter (human) PMID:12135431|REF_RGD_ID:5684967 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:8577 ulcerative colitis ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16059695 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:8577 ulcerative colitis ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter (human) PMID:11929588|REF_RGD_ID:5684968 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:8577 ulcerative colitis ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:transition, repeat:promoter:-237C>T (human) PMID:18340647|REF_RGD_ID:5684939 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:8778 Crohn's disease ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16059695 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:8778 Crohn's disease ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:insertion/deletion:3' utr (human) PMID:18340647|REF_RGD_ID:5684939 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:8778 Crohn's disease ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:point mutation:promoter:-237C>T (human) PMID:16059695|REF_RGD_ID:5684952 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:8778 Crohn's disease ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphism: :823C>T (human) PMID:17131479|REF_RGD_ID:5684942 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:8778 Crohn's disease ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter (human) PMID:11929588|REF_RGD_ID:5684968 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:8778 Crohn's disease ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:repeat, polymorphisms:promoter, intron:p.D543N (human) PMID:18454481|REF_RGD_ID:5684938 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:8778 Crohn's disease no_association ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter (human) PMID:15757519|REF_RGD_ID:5684956 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:8778 Crohn's disease no_association ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter (human) PMID:17385031|REF_RGD_ID:5684941 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:9000099 Experimental Colitis ISO RGD:736533 D RGD:9068941 20200609 RGD PMID:19116231|REF_RGD_ID:5684934 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:9001415 Mycobacterium Infections ISO RGD:736533 D RGD:9068941 20200609 RGD DNA:point mutation (mouse) PMID:11821237|REF_RGD_ID:5684969 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:9002457 Experimental Arthritis severity ISO RGD:736533 D RGD:9068941 20200609 RGD PMID:17122779|REF_RGD_ID:5684943 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:promoter (human) PMID:14960532|REF_RGD_ID:5684961 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:9005099 Salmonella Infections, Animal ISO RGD:736533 D RGD:9068941 20200609 RGD PMID:14734525|REF_RGD_ID:5684962 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:9005372 Inflammation ISO RGD:736533 D RGD:9068941 20200609 RGD PMID:17035062|REF_RGD_ID:5684948 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:9005723 Multibacillary Leprosy ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:insertion/deletion:3' utr (human) PMID:11791966|REF_RGD_ID:5684970 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:deletion:3' utr: (human) PMID:21233146|REF_RGD_ID:5684928 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:9111 cutaneous leishmaniasis ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:insertion/deletion (human) PMID:20089160|REF_RGD_ID:5684930 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:9146 visceral leishmaniasis ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:9146 visceral leishmaniasis ISO RGD:736532 D RGD:9068941 20200609 RGD PMID:17067929|REF_RGD_ID:5684944 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs3731865 (human) PMID:21524304|REF_RGD_ID:5684926 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphism: :274C>T (human) PMID:19768110|REF_RGD_ID:5684932 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:736533 D RGD:9068941 20200609 RGD PMID:16550170|REF_RGD_ID:5684950 11770676 SLC11A1 solute carrier family 11 member 1 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:repeat:promoter (human) PMID:15877293|REF_RGD_ID:5684955 11770708 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:0060041 autism spectrum disorder ISO RGD:735762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20868653 11770708 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:1936 atherosclerosis treatment ISO RGD:735763 D RGD:9068941 20221117 RGD PMID:30909142|REF_RGD_ID:155663380 11770708 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:264 hemangiopericytoma ISO RGD:735762 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:anterior temporal lobe PMID:26951238|REF_RGD_ID:155663351 11770708 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:3068 glioblastoma ISO RGD:735762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 11770708 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:3069 malignant astrocytoma ISO RGD:735762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 11770708 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:3181 oligodendroglioma ISO RGD:735762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 11770708 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:735763 D RGD:9068941 20200609 RGD protein:increased expression:spinal chord PMID:26067594|REF_RGD_ID:13524575 11770708 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:735762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 11770708 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:5199 ureteral obstruction ISO RGD:735762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 11770708 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:5241 hemangioblastoma ISO RGD:735762 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:temporal lobe : PMID:27388534|REF_RGD_ID:155641257 11770708 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:630 genetic disease ISO RGD:735762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770708 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:6432 pulmonary hypertension ISO RGD:735763 D RGD:9068941 20221110 RGD mRNA:decreased expression:lung: PMID:34739767|REF_RGD_ID:155646132 11770708 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:735762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 11770708 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:9005172 Lung Neoplasms ISO RGD:735762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17804716 11770708 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:621403 D RGD:9068941 20200609 RGD PMID:11971902|REF_RGD_ID:625426 11770708 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 11770708 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:9351 diabetes mellitus ISO RGD:621403 D RGD:9068941 20221110 RGD protein:increased expression:skin: PMID:30886104|REF_RGD_ID:155646129 11770708 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:9351 diabetes mellitus ISO RGD:735763 D RGD:9068941 20221110 RGD protein:increased expression:skin: PMID:30886104|REF_RGD_ID:155646129 11770719 TMCO5A transmembrane and coiled-coil domains 5A gene DOID:10283 prostate cancer ISO RGD:1606151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11770719 TMCO5A transmembrane and coiled-coil domains 5A gene DOID:2717 Bloom syndrome ISO RGD:1606151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11770719 TMCO5A transmembrane and coiled-coil domains 5A gene DOID:630 genetic disease ISO RGD:1606151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770719 TMCO5A transmembrane and coiled-coil domains 5A gene DOID:9256 colorectal cancer ISO RGD:1606151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11770738 SLC16A10 solute carrier family 16 member 10 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:731538 D RGD:9068941 20220224 RGD protein:increased expression:esophagus PMID:33609949|REF_RGD_ID:151361149 11770738 SLC16A10 solute carrier family 16 member 10 gene DOID:630 genetic disease ISO RGD:731538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770748 MPHOSPH10 M-phase phosphoprotein 10 gene DOID:543 dystonia ISO RGD:1316939 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11770748 MPHOSPH10 M-phase phosphoprotein 10 gene DOID:630 genetic disease ISO RGD:1316939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770748 MPHOSPH10 M-phase phosphoprotein 10 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1316939 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11770764 MOGAT2 monoacylglycerol O-acyltransferase 2 gene DOID:1059 intellectual disability ISO RGD:1316028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11770764 MOGAT2 monoacylglycerol O-acyltransferase 2 gene DOID:630 genetic disease ISO RGD:1316028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770764 MOGAT2 monoacylglycerol O-acyltransferase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1316028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11770777 THUMPD3 THUMP domain containing 3 gene DOID:0060417 3p deletion syndrome ISO RGD:1348857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:21681106 11770777 THUMPD3 THUMP domain containing 3 gene DOID:2843 long QT syndrome ISO RGD:1348857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11770777 THUMPD3 THUMP domain containing 3 gene DOID:630 genetic disease ISO RGD:1348857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770777 THUMPD3 THUMP domain containing 3 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1348857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 11770817 GPR20 G protein-coupled receptor 20 gene DOID:630 genetic disease ISO RGD:733771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770823 RSPH6A radial spoke head 6 homolog A gene DOID:630 genetic disease ISO RGD:1344817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770837 SWI5 SWI5 homologous recombination repair protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350090 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11770837 SWI5 SWI5 homologous recombination repair protein gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350090 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11770837 SWI5 SWI5 homologous recombination repair protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350090 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11770837 SWI5 SWI5 homologous recombination repair protein gene DOID:630 genetic disease ISO RGD:1350090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770846 GPCPD1 glycerophosphocholine phosphodiesterase 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1606261 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11770846 GPCPD1 glycerophosphocholine phosphodiesterase 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1606261 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11770846 GPCPD1 glycerophosphocholine phosphodiesterase 1 gene DOID:630 genetic disease ISO RGD:1606261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770846 GPCPD1 glycerophosphocholine phosphodiesterase 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1606261 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25482527 11770874 BTK Bruton tyrosine kinase gene DOID:0040084 Streptococcus pneumonia ISO RGD:1551411 D RGD:9068941 20210326 RGD PMID:30873567|REF_RGD_ID:124715473 11770874 BTK Bruton tyrosine kinase gene DOID:0050746 mantle cell lymphoma treatment ISO RGD:1342660 D RGD:9068941 20200609 RGD PMID:23045577|REF_RGD_ID:11040699 11770874 BTK Bruton tyrosine kinase gene DOID:0050757 deafness-dystonia-optic neuronopathy syndrome ISO RGD:1342660 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Deafness dystonia syndrome 11770874 BTK Bruton tyrosine kinase gene DOID:0050866 oral squamous cell carcinoma treatment ISO RGD:1342660 D RGD:9068941 20220204 RGD mRNA:increased expression:oral epithelium (human) PMID:33640903|REF_RGD_ID:151347851 11770874 BTK Bruton tyrosine kinase gene DOID:0060180 colitis ameliorates ISO RGD:1551411 D RGD:9068941 20210326 RGD Associated with candidiasis PMID:25379804|REF_RGD_ID:124713568 11770874 BTK Bruton tyrosine kinase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11770874 BTK Bruton tyrosine kinase gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1342660 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 11770874 BTK Bruton tyrosine kinase gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1342660 D RGD:7240710 20180130 OMIM 11770874 BTK Bruton tyrosine kinase gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1342660 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:10092645|PMID:10373551|PMID:10612838|PMID:10737994|PMID:10754312|PMID:10844531|PMID:10859027|PMID:10887125|PMID:11027452|PMID:11206059|PMID:11410123|PMID:11438999|PMID:11445810|PMID:11472359|PMID:11527964|PMID:11555397|PMID:11668622|PMID:11742281|PMID:11809909|PMID:11892085|PMID:11956200|PMID:12204007|PMID:12217331|PMID:1240516|PMID:12405164|PMID:12655572|PMID:12768435|PMID:14974089|PMID:15024743|PMID:15112668|PMID:15358621|PMID:15661032|PMID:15821893|PMID:16159644|PMID:16199547|PMID:16712653|PMID:16729790|PMID:16862044|PMID:16943681|PMID:16951917|PMID:17045652|PMID:17327079|PMID:17576681|PMID:17765309|PMID:18241230|PMID:18518992|PMID:18677443|PMID:19039656|PMID:19419768|PMID:19763152|PMID:19904586|PMID:20307669|PMID:20529312|PMID:20721470|PMID:21039741|PMID:21520333|PMID:21984432|PMID:22406018|PMID:22736418|PMID:23335184|PMID:23424595|PMID:24001798|PMID:24033266|PMID:24307874|PMID:24383975|PMID:24477949|PMID:24586880|PMID:24658450|PMID:24869598|PMID:24885015|PMID:25082755|PMID:25189416|PMID:25270678|PMID:25640679|PMID:25741868|PMID:25777788|PMID:26915675|PMID:26931785|PMID:26960951|PMID:27199251|PMID:27512878|PMID:27535475|PMID:27577878|PMID:27593100|PMID:27980540|PMID:28049639|PMID:28212557|PMID:28236219|PMID:28359783|PMID:28418267|PMID:28492532|PMID:29424453|PMID:29496671|PMID:29503650|PMID:29709555|PMID:29875397|PMID:29921932|PMID:30018078|PMID:30072168|PMID:30240888|PMID:30290665|PMID:30311057|PMID:30564228|PMID:30697212|PMID:30882382|PMID:32067425|PMID:32441320|PMID:32499645|PMID:32552675|PMID:32581362|PMID:32888943|PMID:33224144|PMID:33377626|PMID:33815962|PMID:34029777|PMID:34182127|PMID:34262886|PMID:3486747|PMID:7627183|PMID:7633420|PMID:7633429|PMID:7678697|PMID:7711734|PMID:7809124|PMID:7849697|PMID:7849721|PMID:7880320|PMID:8013627|PMID:8090769|PMID:8162018|PMID:8162056|PMID:8332900|PMID:8332901|PMID:8380905|PMID:8594569|PMID:8695804|PMID:8723128|PMID:8834236|PMID:8938104|PMID:8939985|PMID:9106525|PMID:9143921|PMID:9188445|PMID:9192269|PMID:9260159|PMID:9445504|PMID:9524120|PMID:9536098|PMID:9545398|PMID:9880544 11770874 BTK Bruton tyrosine kinase gene DOID:0080600 COVID-19 ISO RGD:1342660 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:32503877 11770874 BTK Bruton tyrosine kinase gene DOID:0080600 COVID-19 ISO RGD:1342660 D RGD:9068941 20210326 RGD protein:increased phosphorylation:blood, monocyte (human) PMID:32503877|REF_RGD_ID:124713553 11770874 BTK Bruton tyrosine kinase gene DOID:0081136 agammaglobulinemia 1 ISO RGD:1342660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 PMID:10092645|PMID:11206059|PMID:11410123|PMID:11445810|PMID:11472359|PMID:11668622|PMID:11742281|PMID:12217331|PMID:14974089|PMID:15661032|PMID:16862044|PMID:16951917|PMID:17327079|PMID:17765309|PMID:18518992|PMID:19039656|PMID:19419768|PMID:19904586|PMID:20529312|PMID:23424595|PMID:25741868|PMID:27512878|PMID:27980540|PMID:28492532|PMID:29424453|PMID:29503650|PMID:30072168|PMID:30564228|PMID:7678697|PMID:7809124|PMID:7849697|PMID:7849721|PMID:7880320|PMID:8090769|PMID:8162056|PMID:8380905|PMID:8594569|PMID:8695804|PMID:8939985|PMID:9143921|PMID:9188445|PMID:9445504|PMID:9524120|PMID:9545398|PMID:9880544 11770874 BTK Bruton tyrosine kinase gene DOID:11573 listeriosis ameliorates ISO RGD:1551411 D RGD:9068941 20210326 RGD PMID:23544144|REF_RGD_ID:124713555 11770874 BTK Bruton tyrosine kinase gene DOID:12053 cryptococcosis exacerbates ISO RGD:1551411 D RGD:9068941 20210326 RGD PMID:23820392|REF_RGD_ID:124715476 11770874 BTK Bruton tyrosine kinase gene DOID:12849 autistic disorder ISO RGD:1342660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11770874 BTK Bruton tyrosine kinase gene DOID:14179 X-linked agammaglobulinemia ISO RGD:1342660 D RGD:7240710 20180130 OMIM 11770874 BTK Bruton tyrosine kinase gene DOID:14179 X-linked agammaglobulinemia ISO RGD:1342660 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia PMID:10092645|PMID:10678660|PMID:10737994|PMID:10844531|PMID:10859027|PMID:10887125|PMID:11102984|PMID:11206059|PMID:11410123|PMID:11445810|PMID:11472359|PMID:11527964|PMID:11555397|PMID:11564824|PMID:11586956|PMID:11668622|PMID:11742281|PMID:11809909|PMID:12204007|PMID:12217331|PMID:12405164|PMID:12655572|PMID:12768435|PMID:14974089|PMID:15112668|PMID:15661032|PMID:16053733|PMID:16160918|PMID:16199547|PMID:16712653|PMID:16751014|PMID:16862044|PMID:16951917|PMID:17045652|PMID:17164954|PMID:17327079|PMID:17576681|PMID:17765309|PMID:18241230|PMID:18518992|PMID:18677443|PMID:19039656|PMID:19419768|PMID:19904586|PMID:20529312|PMID:21397315|PMID:23424595|PMID:24001798|PMID:24033266|PMID:24383975|PMID:24820629|PMID:24885015|PMID:25142992|PMID:25525159|PMID:25741868|PMID:26915675|PMID:26981933|PMID:27512878|PMID:27577878|PMID:27980540|PMID:28492532|PMID:2896233|PMID:29424453|PMID:29503650|PMID:30072168|PMID:30240888|PMID:30564228|PMID:30627929|PMID:31803177|PMID:32499645|PMID:32581362|PMID:34029777|PMID:4697357|PMID:7554467|PMID:7627183|PMID:7633429|PMID:7678697|PMID:7711734|PMID:7809124|PMID:7849697|PMID:7849721|PMID:7880320|PMID:8090769|PMID:8162056|PMID:8164701|PMID:8164707|PMID:8380905|PMID:8594569|PMID:8644706|PMID:8695804|PMID:8938104|PMID:8939985|PMID:9106525|PMID:9143921|PMID:9188445|PMID:9260159|PMID:9445504|PMID:9524120|PMID:9536098|PMID:9545398|PMID:9880544 11770874 BTK Bruton tyrosine kinase gene DOID:14179 X-linked agammaglobulinemia ameliorates ISO RGD:1342660 D RGD:9068941 20210326 RGD Human gene in mouse model PMID:20574453|REF_RGD_ID:124715475 11770874 BTK Bruton tyrosine kinase gene DOID:14179 X-linked agammaglobulinemia ameliorates ISO RGD:1342660 D RGD:9068941 20210326 RGD human gene in a mouse model PMID:15142874|REF_RGD_ID:124713551 11770874 BTK Bruton tyrosine kinase gene DOID:14499 Fabry disease ISO RGD:1342660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:10666480|PMID:12175777|PMID:28492532 11770874 BTK Bruton tyrosine kinase gene DOID:1556 arthus reaction treatment ISO RGD:1359683 D RGD:9068941 20200609 RGD PMID:22228807|REF_RGD_ID:11040701 11770874 BTK Bruton tyrosine kinase gene DOID:234 colon adenocarcinoma ISO RGD:1342660 D RGD:9068941 20220204 RGD mRNA:decreased expression:colon (human) PMID:31402962|REF_RGD_ID:151347853 11770874 BTK Bruton tyrosine kinase gene DOID:2583 agammaglobulinemia ISO RGD:1342660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia PMID:10352268 11770874 BTK Bruton tyrosine kinase gene DOID:2583 agammaglobulinemia susceptibility ISO RGD:1342660 D RGD:9068941 20200609 RGD DNA:insertions, point mutations PMID:8162018|REF_RGD_ID:1600526 11770874 BTK Bruton tyrosine kinase gene DOID:288 endometriosis of uterus disease_progression ISO RGD:1551411 D RGD:9068941 20210326 RGD PMID:31247078|REF_RGD_ID:124715471 11770874 BTK Bruton tyrosine kinase gene DOID:3234 central nervous system lymphoma ameliorates ISO RGD:1342660 D RGD:9068941 20210326 RGD PMID:28552327|REF_RGD_ID:124715478 11770874 BTK Bruton tyrosine kinase gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1342660 D RGD:9068941 20220204 RGD mRNA:increased expression:lung (human) PMID:32623229|REF_RGD_ID:151347854 11770874 BTK Bruton tyrosine kinase gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1342660 D RGD:9068941 20220204 RGD mRNA:decreased expression:lung (human) PMID:32351880|REF_RGD_ID:151347848 11770874 BTK Bruton tyrosine kinase gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1342660 D RGD:9068941 20220204 RGD mRNA:decreased expression:lung (human) PMID:31803536|REF_RGD_ID:151347849 11770874 BTK Bruton tyrosine kinase gene DOID:612 primary immunodeficiency disease ISO RGD:1342660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:11809909|PMID:12405164|PMID:15661032|PMID:16862044|PMID:17576681|PMID:19419768|PMID:25741868|PMID:28492532|PMID:32499645|PMID:32581362|PMID:7627183|PMID:7849697|PMID:9536098|PMID:9545398 11770874 BTK Bruton tyrosine kinase gene DOID:630 genetic disease ISO RGD:1342660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11770874 BTK Bruton tyrosine kinase gene DOID:707 B-cell lymphoma treatment ISO RGD:1342660 D RGD:9068941 20210326 RGD human cell in a mouse model PMID:28348046|REF_RGD_ID:124713554 11770874 BTK Bruton tyrosine kinase gene DOID:707 B-cell lymphoma treatment ISO RGD:1551411 D RGD:9068941 20200609 RGD PMID:25662332|REF_RGD_ID:11040764 11770874 BTK Bruton tyrosine kinase gene DOID:8584 Burkitt lymphoma ameliorates ISO RGD:1342660 D RGD:9068941 20210326 RGD Human cell line in a mouse model PMID:30546948|REF_RGD_ID:124715474 11770874 BTK Bruton tyrosine kinase gene DOID:8584 Burkitt lymphoma treatment ISO RGD:1342660 D RGD:9068941 20210326 RGD mRNA:increased expression:multiple (human) PMID:28474336|REF_RGD_ID:124713565 11770874 BTK Bruton tyrosine kinase gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1342660 D RGD:9068941 20220204 RGD associated with lung adenocarcinoma;protein:increased expression:lung (human) PMID:31200752|REF_RGD_ID:151347847 11770874 BTK Bruton tyrosine kinase gene DOID:9000371 influenza A ameliorates ISO RGD:1551411 D RGD:9068941 20210326 RGD Associated with Acute Lung Injury PMID:29516781|REF_RGD_ID:124713566 11770874 BTK Bruton tyrosine kinase gene DOID:9000873 Adenoviridae Infections susceptibility ISO RGD:1551411 D RGD:9068941 20210326 RGD PMID:15140955|REF_RGD_ID:124713567 11770874 BTK Bruton tyrosine kinase gene DOID:9002106 Pneumococcal Pneumonia ameliorates ISO RGD:1551411 D RGD:9068941 20210326 RGD PMID:30646846|REF_RGD_ID:124715470 11770874 BTK Bruton tyrosine kinase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1342660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia PMID:24869598|PMID:25741868|PMID:28492532 11770874 BTK Bruton tyrosine kinase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia treatment ISO RGD:1342660 D RGD:9068941 20200609 RGD PMID:23045577|REF_RGD_ID:11040699 11770874 BTK Bruton tyrosine kinase gene DOID:9002395 Hypothermia exacerbates ISO RGD:1323170 D RGD:9068941 20210326 RGD Associated with Endotoxemia; with Itk knockout PMID:26581914|REF_RGD_ID:11533169 11770874 BTK Bruton tyrosine kinase gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1359683 D RGD:9068941 20220311 RGD PMID:22228807|PMID:32083858|REF_RGD_ID:11040701|REF_RGD_ID:151665122 11770874 BTK Bruton tyrosine kinase gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1551411 D RGD:9068941 20200609 RGD PMID:22228807|REF_RGD_ID:11040701 11770874 BTK Bruton tyrosine kinase gene DOID:9004143 X-Linked Hypogammaglobulinemia ISO RGD:1342660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogammaglobulinemia, X-linked PMID:8758136 11770874 BTK Bruton tyrosine kinase gene DOID:9006549 Enterovirus Infections treatment ISO RGD:1551411 D RGD:9068941 20210326 RGD Associated with X-linked agammaglobulinemia PMID:10508272|REF_RGD_ID:124715472 11770874 BTK Bruton tyrosine kinase gene DOID:9007278 Anaphylaxis treatment ISO RGD:1359683 D RGD:9068941 20200609 RGD PMID:22228807|REF_RGD_ID:11040701 11770874 BTK Bruton tyrosine kinase gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1342660 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 11770874 BTK Bruton tyrosine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:1342660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:24869598|PMID:25082755|PMID:25189416|PMID:25741868|PMID:27199251|PMID:28049639|PMID:28212557|PMID:28418267|PMID:28492532|PMID:29496671|PMID:29875397|PMID:30018078 11770874 BTK Bruton tyrosine kinase gene DOID:9065 leishmaniasis susceptibility ISO RGD:1551411 D RGD:9068941 20210326 RGD PMID:28783468|REF_RGD_ID:124715477 11770874 BTK Bruton tyrosine kinase gene DOID:9256 colorectal cancer disease_progression ISO RGD:1342660 D RGD:9068941 20220204 RGD protein:increased expression:colorectum (human) PMID:31518438|REF_RGD_ID:151347850 11770874 BTK Bruton tyrosine kinase gene DOID:9256 colorectal cancer exacerbates ISO RGD:1342660 D RGD:9068941 20220204 RGD protein:increased expression:colorectum (human) PMID:31238520|REF_RGD_ID:151347852 11770874 BTK Bruton tyrosine kinase gene DOID:9261 nasopharynx carcinoma ISO RGD:1342660 D RGD:9068941 20220204 RGD mRNA:decreased expression:nasopharynx (human) PMID:33096113|REF_RGD_ID:151347855 11770897 RPL36A ribosomal protein L36a gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1315369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11770897 RPL36A ribosomal protein L36a gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1315369 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 11770897 RPL36A ribosomal protein L36a gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1315369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 11770897 RPL36A ribosomal protein L36a gene DOID:12849 autistic disorder ISO RGD:1315369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11770897 RPL36A ribosomal protein L36a gene DOID:14499 Fabry disease ISO RGD:1315369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:10666480|PMID:12175777|PMID:28492532 11770897 RPL36A ribosomal protein L36a gene DOID:3910 lung adenocarcinoma ISO RGD:1315369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11770897 RPL36A ribosomal protein L36a gene DOID:9006205 Animal Disease Models ISO RGD:1315369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11770897 RPL36A ribosomal protein L36a gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1315369 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 11770906 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:0112297 spondylometaphyseal dysplasia corner fracture type ISO RGD:731594 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type PMID:25741868|PMID:28492532 11770906 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:1059 intellectual disability ISO RGD:731594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11770906 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:11372 megacolon ISO RGD:731594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11770906 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:11476 osteoporosis ISO RGD:731594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 11770906 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:1184 nephrotic syndrome ISO RGD:731594 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:29127259 11770906 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:1432 blindness ISO RGD:731594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15114530 11770906 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:4448 macular degeneration ISO RGD:731594 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:15114530|PMID:25741868|PMID:28492532|PMID:28991257|PMID:32557644 11770906 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:630 genetic disease ISO RGD:731594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11770906 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:653 purine-pyrimidine metabolic disorder susceptibility ISO RGD:731594 D RGD:9068941 20200609 RGD DNA:frameshift,point mutation:A1277G;AICA-RIBOSIDURIA,OMIM:608688 PMID:15114530|REF_RGD_ID:1599355 11770906 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:7148 rheumatoid arthritis ISO RGD:731594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19193698 11770906 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:784 chronic kidney disease ISO RGD:731594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 11770906 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:9002457 Experimental Arthritis ISO RGD:70879 D RGD:9068941 20200609 RGD PMID:17408934|REF_RGD_ID:5144054 11770906 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11770906 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:9005133 AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency ISO RGD:731594 D RGD:7240710 20180130 OMIM 11770906 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:9005133 AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency ISO RGD:731594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AICAR transformylase/IMP cyclohydrolase deficiency | ClinVar Annotator: match by term: ATIC DEFICIENCY PMID:15114530|PMID:25741868|PMID:28492532|PMID:28991257|PMID:32557644 11770906 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:9005563 Glomerulopathy with Giant Fibrillar Deposits ISO RGD:731594 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 PMID:25741868|PMID:28492532 11770906 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:731594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16947783 11770906 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:9008952 Breast Cancer, Familial ISO RGD:731594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:28492532 11770906 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:936 brain disease ISO RGD:731594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868 11770926 SLC2A9 solute carrier family 2 member 9 gene DOID:0060611 abdominal obesity-metabolic syndrome ISO RGD:1314451 D RGD:9068941 20220825 MouseDO 11770926 SLC2A9 solute carrier family 2 member 9 gene DOID:0080653 urolithiasis ISO RGD:12187213 D RGD:9068941 20220630 OMIA Urolithiasis PMID:15501150 11770926 SLC2A9 solute carrier family 2 member 9 gene DOID:13189 gout ISO RGD:1351405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18327256|PMID:18327257 11770926 SLC2A9 solute carrier family 2 member 9 gene DOID:1920 hyperuricemia ISO RGD:1314451 D RGD:9068941 20220825 MouseDO 11770926 SLC2A9 solute carrier family 2 member 9 gene DOID:1920 hyperuricemia ISO RGD:1351405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18989453 11770926 SLC2A9 solute carrier family 2 member 9 gene DOID:5419 schizophrenia ISO RGD:1351405 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11770926 SLC2A9 solute carrier family 2 member 9 gene DOID:630 genetic disease ISO RGD:1351405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11770926 SLC2A9 solute carrier family 2 member 9 gene DOID:9007605 Renal Hypouricemia ISO RGD:1351405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dalmatian hypouricemia 11770926 SLC2A9 solute carrier family 2 member 9 gene DOID:9007721 Renal Hypouricemia, 2 ISO RGD:1351405 D RGD:7240710 20180130 OMIM 11770926 SLC2A9 solute carrier family 2 member 9 gene DOID:9007721 Renal Hypouricemia, 2 ISO RGD:1351405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypouricemia, renal, 2 | ClinVar Annotator: match by term: Uric acid concentration, serum, quantitative trait locus 2 PMID:18327256|PMID:18327257|PMID:18701466|PMID:19026395|PMID:19189137|PMID:19926891|PMID:21256783|PMID:21536615|PMID:21810765|PMID:22132964|PMID:24397858|PMID:24628802|PMID:24940677|PMID:25741868|PMID:25966807|PMID:26500098|PMID:27116386|PMID:28492532|PMID:29967582 11770947 MED12 mediator complex subunit 12 gene DOID:0001816 angiosarcoma ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angiosarcoma PMID:26822237 11770947 MED12 mediator complex subunit 12 gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:1350145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe combined immunodeficiency PMID:28492532 11770947 MED12 mediator complex subunit 12 gene DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1 PMID:25741868 11770947 MED12 mediator complex subunit 12 gene DOID:0060289 Ohdo syndrome ISO RGD:1350145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11770947 MED12 mediator complex subunit 12 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11770947 MED12 mediator complex subunit 12 gene DOID:0070057 Coffin-Siris syndrome 9 ISO RGD:1350145 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND WITH OR WITHOUT OCULAR MALFORMATIONS OR HYPOGONADOTROPIC HYPOGONADISM PMID:25741868 11770947 MED12 mediator complex subunit 12 gene DOID:0080985 syndromic X-linked intellectual disorder Lujan-Fryns-type ISO RGD:1350145 D RGD:7240710 20180130 OMIM 11770947 MED12 mediator complex subunit 12 gene DOID:0080985 syndromic X-linked intellectual disorder Lujan-Fryns-type ISO RGD:1350145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lujan Syndrome | ClinVar Annotator: match by term: MED12-related intellectual disability syndrome | ClinVar Annotator: match by term: X-linked mental retardation with marfanoid habitus syndrome PMID:10405444|PMID:16199547|PMID:17334363|PMID:17369503|PMID:18414213|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:23395478|PMID:24039113|PMID:24077912|PMID:24728327|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26338144|PMID:26350204|PMID:27980443|PMID:28369444|PMID:28492532|PMID:30006928|PMID:30729724|PMID:31322785|PMID:31536828|PMID:32174975|PMID:32371413|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34008892|PMID:6711603 11770947 MED12 mediator complex subunit 12 gene DOID:0110457 dilated cardiomyopathy 1Y ISO RGD:1350145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1Y PMID:28492532 11770947 MED12 mediator complex subunit 12 gene DOID:10488 imperforate anus ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia PMID:10405444|PMID:17334363|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:25326635|PMID:25741868|PMID:26350204|PMID:28369444|PMID:28492532 11770947 MED12 mediator complex subunit 12 gene DOID:1059 intellectual disability ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10405444|PMID:17334363|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:25326635|PMID:25741868|PMID:26273451|PMID:26350204|PMID:28369444|PMID:28492532|PMID:28544239 11770947 MED12 mediator complex subunit 12 gene DOID:12849 autistic disorder ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11770947 MED12 mediator complex subunit 12 gene DOID:13223 uterine fibroid ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uterine leiomyoma PMID:26822237 11770947 MED12 mediator complex subunit 12 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1350145 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:18414213|PMID:20301719|PMID:23395478|PMID:24039113|PMID:24715367|PMID:24728327|PMID:25326637|PMID:25741868|PMID:26273451|PMID:26813965|PMID:27312080|PMID:28492532|PMID:28544239|PMID:30006928|PMID:33244166|PMID:9536098 11770947 MED12 mediator complex subunit 12 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1350145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:18414213|PMID:20301719|PMID:23395478|PMID:24039113|PMID:24715367|PMID:24728327|PMID:25326637|PMID:25741868|PMID:26273451|PMID:26813965|PMID:27312080|PMID:28492532|PMID:28544239|PMID:30006928|PMID:33023636|PMID:33244166|PMID:34008892|PMID:9536098 11770947 MED12 mediator complex subunit 12 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1350145 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:18414213|PMID:20301719|PMID:23395478|PMID:24039113|PMID:24715367|PMID:24728327|PMID:25326637|PMID:25741868|PMID:26273451|PMID:26813965|PMID:27081531|PMID:27312080|PMID:28492532|PMID:28544239|PMID:28882788|PMID:30006928|PMID:32779332|PMID:33023636|PMID:33244166|PMID:34008892|PMID:9536098 11770947 MED12 mediator complex subunit 12 gene DOID:1470 major depressive disorder ISO RGD:1350145 D RGD:9068941 20200806 RGD DNA:mutation:multiple PMID:12216017|REF_RGD_ID:1358728 11770947 MED12 mediator complex subunit 12 gene DOID:14711 FG syndrome ISO RGD:1350145 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Keller syndrome | ClinVar Annotator: match by term: Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome PMID:10405444|PMID:10982179|PMID:16199547|PMID:16700052|PMID:17334363|PMID:17369503|PMID:17576681|PMID:18414213|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:23395478|PMID:23757202|PMID:24039113|PMID:24077912|PMID:24715367|PMID:24728327|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26273451|PMID:26338144|PMID:26350204|PMID:26813965|PMID:27081531|PMID:27312080|PMID:27500536|PMID:27620904|PMID:27980443|PMID:28369444|PMID:28492532|PMID:28544239|PMID:28794916|PMID:30006928|PMID:30729724|PMID:31536828|PMID:32371413|PMID:32682435|PMID:32715471|PMID:32779332|PMID:33023636|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34008892|PMID:34079076|PMID:6711603|PMID:8279489|PMID:9536098 11770947 MED12 mediator complex subunit 12 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11770947 MED12 mediator complex subunit 12 gene DOID:1967 leiomyosarcoma ISO RGD:1350145 D RGD:9068941 20200609 RGD DNA:missense mutations:cds: PMID:26891131|REF_RGD_ID:11353203 11770947 MED12 mediator complex subunit 12 gene DOID:2154 nephroblastoma ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor, somatic PMID:25741868|PMID:26822237 11770947 MED12 mediator complex subunit 12 gene DOID:2526 prostate adenocarcinoma ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:26619011 11770947 MED12 mediator complex subunit 12 gene DOID:3068 glioblastoma ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:26822237 11770947 MED12 mediator complex subunit 12 gene DOID:3717 gastric adenocarcinoma ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:26619011 11770947 MED12 mediator complex subunit 12 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:26619011 11770947 MED12 mediator complex subunit 12 gene DOID:3948 adrenocortical carcinoma ISO RGD:1350145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747642 11770947 MED12 mediator complex subunit 12 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:26619011 11770947 MED12 mediator complex subunit 12 gene DOID:591 phobic disorder ISO RGD:1350145 D RGD:9068941 20200806 RGD DNA:mutation:multiple PMID:12216017|REF_RGD_ID:1358728 11770947 MED12 mediator complex subunit 12 gene DOID:630 genetic disease ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10405444|PMID:16700052|PMID:17036352|PMID:17103446|PMID:17334363|PMID:17369503|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20507344|PMID:20970104|PMID:20981778|PMID:23091001|PMID:23395478|PMID:23506379|PMID:24039113|PMID:25326635|PMID:25644381|PMID:25741868|PMID:26273451|PMID:26338144|PMID:26350204|PMID:27500536|PMID:27620904|PMID:28369444|PMID:28492532|PMID:28794916|PMID:30006928|PMID:30729724|PMID:32682435|PMID:8279489 11770947 MED12 mediator complex subunit 12 gene DOID:9001471 Anorectal Malformations ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anorectal stenosis PMID:10405444|PMID:17334363|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:25326635|PMID:25741868|PMID:26350204|PMID:28369444|PMID:28492532 11770947 MED12 mediator complex subunit 12 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum agenesis PMID:10405444|PMID:17334363|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:25326635|PMID:25741868|PMID:26350204|PMID:28369444|PMID:28492532 11770947 MED12 mediator complex subunit 12 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22610119|PMID:29610475 11770947 MED12 mediator complex subunit 12 gene DOID:9003401 Hardikar Syndrome ISO RGD:1350145 D RGD:7240710 20211222 OMIM 11770947 MED12 mediator complex subunit 12 gene DOID:9003401 Hardikar Syndrome ISO RGD:1350145 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cholestasis-pigmentary retinopathy-cleft palate syndrome | ClinVar Annotator: match by term: Hardikar syndrome PMID:20301719|PMID:24728327|PMID:25741868|PMID:28492532|PMID:30006928|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34079076|PMID:9286458 11770947 MED12 mediator complex subunit 12 gene DOID:9004240 Phyllodes Tumor ISO RGD:1350145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 11770947 MED12 mediator complex subunit 12 gene DOID:9004628 Ohdo Syndrome, X-Linked ISO RGD:1350145 D RGD:7240710 20180130 OMIM 11770947 MED12 mediator complex subunit 12 gene DOID:9004628 Ohdo Syndrome, X-Linked ISO RGD:1350145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNER TYPE | ClinVar Annotator: match by term: Ohdo syndrome, X-linked PMID:10405444|PMID:16700052|PMID:17334363|PMID:17369503|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:23395478|PMID:24039113|PMID:24077912|PMID:24715367|PMID:24728327|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26338144|PMID:26350204|PMID:27500536|PMID:27620904|PMID:28369444|PMID:28492532|PMID:28794916|PMID:30006928|PMID:30729724|PMID:32371413|PMID:32682435|PMID:32715471|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34079076|PMID:8279489 11770947 MED12 mediator complex subunit 12 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1350145 D RGD:9068941 20200609 RGD DNA:duplication mutation:cds:c.5898dupC(p.S1967Qfs84)(human) PMID:24039113|REF_RGD_ID:12910947 11770947 MED12 mediator complex subunit 12 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1350145 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:2881C>T(p.R961W)(human) PMID:17334363|REF_RGD_ID:12910952 11770947 MED12 mediator complex subunit 12 gene DOID:9006947 Fibroadenoma ISO RGD:1350145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25038752|PMID:26437033 11770947 MED12 mediator complex subunit 12 gene DOID:9007898 FG Syndrome 1 ISO RGD:1350145 D RGD:7240710 20200226 OMIM 11770947 MED12 mediator complex subunit 12 gene DOID:9007898 FG Syndrome 1 ISO RGD:1350145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:10405444|PMID:10982179|PMID:16199547|PMID:16700052|PMID:17334363|PMID:17369503|PMID:17576681|PMID:18414213|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20507344|PMID:20981778|PMID:23091001|PMID:23395478|PMID:23506379|PMID:23757202|PMID:24033266|PMID:24039113|PMID:24077912|PMID:24715367|PMID:24728327|PMID:25326635|PMID:25326637|PMID:25644381|PMID:25741868|PMID:26273451|PMID:26338144|PMID:26350204|PMID:26467025|PMID:26813965|PMID:27081531|PMID:27286923|PMID:27312080|PMID:27500536|PMID:27620904|PMID:27980443|PMID:28369444|PMID:28492532|PMID:28544239|PMID:28794916|PMID:30006928|PMID:30729724|PMID:31322785|PMID:31536828|PMID:32174975|PMID:32371413|PMID:32410215|PMID:32682435|PMID:32715471|PMID:32779332|PMID:33023636|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34008892|PMID:34079076|PMID:6711603|PMID:8279489|PMID:9286458|PMID:9536098 11770947 MED12 mediator complex subunit 12 gene DOID:9008086 Developmental Disabilities ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:10405444|PMID:17334363|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:25326635|PMID:25741868|PMID:26350204|PMID:28369444|PMID:28492532 11770947 MED12 mediator complex subunit 12 gene DOID:9008939 Breast Neoplasms ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:26619011 11771002 PKDREJ polycystin family receptor for egg jelly gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1315287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11771002 PKDREJ polycystin family receptor for egg jelly gene DOID:1059 intellectual disability ISO RGD:1315287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11771002 PKDREJ polycystin family receptor for egg jelly gene DOID:630 genetic disease ISO RGD:1315287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771072 AGK acylglycerol kinase gene DOID:0080132 Sengers syndrome ISO RGD:1352363 D RGD:7240710 20180130 OMIM 11771072 AGK acylglycerol kinase gene DOID:0080132 Sengers syndrome ISO RGD:1352363 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sengers syndrome PMID:15168109|PMID:16199547|PMID:17576681|PMID:22277967|PMID:22284826|PMID:22415731|PMID:23266196|PMID:24088041|PMID:25208612|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26582918|PMID:26633545|PMID:28492532|PMID:28868593|PMID:31303091|PMID:34948281|PMID:3560758|PMID:9536098 11771072 AGK acylglycerol kinase gene DOID:0080690 RASopathy ISO RGD:1352363 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 11771072 AGK acylglycerol kinase gene DOID:0110245 cataract 38 ISO RGD:1352363 D RGD:7240710 20180130 OMIM 11771072 AGK acylglycerol kinase gene DOID:0110245 cataract 38 ISO RGD:1352363 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: AGK-Related Disorders | ClinVar Annotator: match by term: Cataract 38 PMID:17576681|PMID:22415731|PMID:24088041|PMID:25741868|PMID:26582918|PMID:26633545|PMID:28492532|PMID:9536098 11771072 AGK acylglycerol kinase gene DOID:0111415 trichohepatoenteric syndrome 1 ISO RGD:1352363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 PMID:22284826|PMID:23266196|PMID:24088041|PMID:25208612|PMID:25326635|PMID:25741868|PMID:26633545|PMID:28492532|PMID:28868593 11771072 AGK acylglycerol kinase gene DOID:630 genetic disease ISO RGD:1352363 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22415731|PMID:24088041|PMID:25326637|PMID:25741868|PMID:26582918|PMID:26633545|PMID:28492532 11771072 AGK acylglycerol kinase gene DOID:83 cataract ISO RGD:1352363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract 11771107 NPY1R neuropeptide Y receptor Y1 gene DOID:0050830 peripheral artery disease ISO RGD:1347163 D RGD:9068941 20200609 RGD PMID:21468772|REF_RGD_ID:10448273 11771107 NPY1R neuropeptide Y receptor Y1 gene DOID:0080074 neural tube defect ISO RGD:1347163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17400914 11771107 NPY1R neuropeptide Y receptor Y1 gene DOID:10763 hypertension ISO RGD:3198 D RGD:9068941 20200609 RGD PMID:15699473|REF_RGD_ID:1357410 11771107 NPY1R neuropeptide Y receptor Y1 gene DOID:11832 visual epilepsy ISO RGD:3198 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:10521595|REF_RGD_ID:1642320 11771107 NPY1R neuropeptide Y receptor Y1 gene DOID:1596 depressive disorder ISO RGD:1347163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9729278 11771107 NPY1R neuropeptide Y receptor Y1 gene DOID:1596 depressive disorder ISO RGD:3198 D RGD:9068941 20200609 RGD PMID:17265460|REF_RGD_ID:1642308 11771107 NPY1R neuropeptide Y receptor Y1 gene DOID:1596 depressive disorder treatment ISO RGD:3198 D RGD:9068941 20200609 RGD PMID:19623606|PMID:21803058|REF_RGD_ID:10448284|REF_RGD_ID:10448937 11771107 NPY1R neuropeptide Y receptor Y1 gene DOID:1825 childhood absence epilepsy treatment ISO RGD:3198 D RGD:9068941 20200609 RGD PMID:17331209|REF_RGD_ID:10448963 11771107 NPY1R neuropeptide Y receptor Y1 gene DOID:1936 atherosclerosis ISO RGD:737212 D RGD:9068941 20200609 RGD PMID:21468772|REF_RGD_ID:10448273 11771107 NPY1R neuropeptide Y receptor Y1 gene DOID:2030 anxiety disorder ISO RGD:1347163 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11440811 11771107 NPY1R neuropeptide Y receptor Y1 gene DOID:2030 anxiety disorder treatment ISO RGD:3198 D RGD:9068941 20200609 RGD PMID:21803058|REF_RGD_ID:10448284 11771107 NPY1R neuropeptide Y receptor Y1 gene DOID:3328 temporal lobe epilepsy ISO RGD:1347163 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:15337376|REF_RGD_ID:1642609 11771107 NPY1R neuropeptide Y receptor Y1 gene DOID:630 genetic disease ISO RGD:1347163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771107 NPY1R neuropeptide Y receptor Y1 gene DOID:670 amphetamine abuse ISO RGD:1347163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19566775 11771107 NPY1R neuropeptide Y receptor Y1 gene DOID:8646 substance-induced psychosis ISO RGD:1347163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19566775 11771107 NPY1R neuropeptide Y receptor Y1 gene DOID:9001109 Anorexia ISO RGD:3198 D RGD:9068941 20200609 RGD associated with Neoplasms;mRNA, protein:decreased expression:hypothalamus PMID:17234300|REF_RGD_ID:10448965 11771107 NPY1R neuropeptide Y receptor Y1 gene DOID:9002498 Wallerian Degeneration ISO RGD:3198 D RGD:9068941 20200609 RGD PMID:10320723|REF_RGD_ID:1642322 11771107 NPY1R neuropeptide Y receptor Y1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3198 D RGD:9068941 20200609 RGD PMID:18201831|REF_RGD_ID:10448967 11771107 NPY1R neuropeptide Y receptor Y1 gene DOID:9007096 Stroke ISO RGD:3198 D RGD:9068941 20200609 RGD PMID:10891620|REF_RGD_ID:1642319 11771107 NPY1R neuropeptide Y receptor Y1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3198 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle PMID:17562528|REF_RGD_ID:1642307 11771107 NPY1R neuropeptide Y receptor Y1 gene DOID:9007993 Dehydration ISO RGD:3198 D RGD:9068941 20200609 RGD protein:increased expression:hypothalamus PMID:16728491|REF_RGD_ID:1642311 11771107 NPY1R neuropeptide Y receptor Y1 gene DOID:9008251 Toothache ISO RGD:1347163 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18809749 11771107 NPY1R neuropeptide Y receptor Y1 gene DOID:9970 obesity ISO RGD:1347163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20975297 11771107 NPY1R neuropeptide Y receptor Y1 gene DOID:9970 obesity ISO RGD:3198 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus PMID:17447163|REF_RGD_ID:10448938 11771107 NPY1R neuropeptide Y receptor Y1 gene DOID:9970 obesity ISO RGD:737212 D RGD:9068941 20220825 MouseDO OMIM:601665 11771107 NPY1R neuropeptide Y receptor Y1 gene DOID:9970 obesity susceptibility ISO RGD:737212 D RGD:9068941 20200609 RGD associated with Hyperinsulinemia PMID:9861026|REF_RGD_ID:1642306 11771153 EID2 EP300 interacting inhibitor of differentiation 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1351030 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11771153 EID2 EP300 interacting inhibitor of differentiation 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1351030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11771153 EID2 EP300 interacting inhibitor of differentiation 2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1351030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11771153 EID2 EP300 interacting inhibitor of differentiation 2 gene DOID:2340 craniosynostosis ISO RGD:1351030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11771153 EID2 EP300 interacting inhibitor of differentiation 2 gene DOID:630 genetic disease ISO RGD:1351030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771153 EID2 EP300 interacting inhibitor of differentiation 2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1351030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11771153 EID2 EP300 interacting inhibitor of differentiation 2 gene DOID:9269 maple syrup urine disease ISO RGD:1351030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11771153 EID2 EP300 interacting inhibitor of differentiation 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351030 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11771158 NAALAD2 N-acetylated alpha-linked acidic dipeptidase 2 gene DOID:1059 intellectual disability ISO RGD:1314164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11771158 NAALAD2 N-acetylated alpha-linked acidic dipeptidase 2 gene DOID:630 genetic disease ISO RGD:1314164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771158 NAALAD2 N-acetylated alpha-linked acidic dipeptidase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11771186 TMEM225 transmembrane protein 225 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1605235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11771186 TMEM225 transmembrane protein 225 gene DOID:5419 schizophrenia ISO RGD:1605235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11771186 TMEM225 transmembrane protein 225 gene DOID:630 genetic disease ISO RGD:1605235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771186 TMEM225 transmembrane protein 225 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11771186 TMEM225 transmembrane protein 225 gene DOID:9007661 Dwarfism ISO RGD:1605235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11771197 SOGA1 suppressor of glucose, autophagy associated 1 gene DOID:2234 focal epilepsy ISO RGD:1352015 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11771197 SOGA1 suppressor of glucose, autophagy associated 1 gene DOID:630 genetic disease ISO RGD:1352015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771217 ACOT6 acyl-CoA thioesterase 6 gene DOID:1059 intellectual disability ISO RGD:1605747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11771217 ACOT6 acyl-CoA thioesterase 6 gene DOID:5419 schizophrenia ISO RGD:1605747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 11771217 ACOT6 acyl-CoA thioesterase 6 gene DOID:630 genetic disease ISO RGD:1605747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771223 ETV6 ETS variant transcription factor 6 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1345405 D RGD:9068941 20200609 RGD PMID:12203785|REF_RGD_ID:1581019 11771223 ETV6 ETS variant transcription factor 6 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1345405 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:9171997|REF_RGD_ID:10450601 11771223 ETV6 ETS variant transcription factor 6 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1345405 D RGD:9068941 20200609 RGD DNA:translocation: : PMID:18476590|REF_RGD_ID:10450605 11771223 ETV6 ETS variant transcription factor 6 gene DOID:0070004 myeloid neoplasm ISO RGD:1345405 D RGD:9068941 20200609 RGD DNA:translocation: : PMID:9044825|REF_RGD_ID:10450608 11771223 ETV6 ETS variant transcription factor 6 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1345405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 11771223 ETV6 ETS variant transcription factor 6 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1345405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 11771223 ETV6 ETS variant transcription factor 6 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1345405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15217836|PMID:24413735|PMID:25807284 11771223 ETV6 ETS variant transcription factor 6 gene DOID:1037 lymphoid leukemia ISO RGD:1345405 D RGD:9068941 20200609 RGD DNA:translocation: : PMID:9539781|REF_RGD_ID:10450724 11771223 ETV6 ETS variant transcription factor 6 gene DOID:1240 leukemia ISO RGD:1345405 D RGD:9068941 20200609 RGD DNA:translocation: : PMID:9326218|REF_RGD_ID:10450609 11771223 ETV6 ETS variant transcription factor 6 gene DOID:1588 thrombocytopenia ISO RGD:1345405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25581430|PMID:25741868|PMID:26522332|PMID:27365488|PMID:28492532|PMID:31064749|PMID:32581362 11771223 ETV6 ETS variant transcription factor 6 gene DOID:2213 hemorrhagic disease ISO RGD:1345405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 11771223 ETV6 ETS variant transcription factor 6 gene DOID:2226 myeloproliferative neoplasm ISO RGD:1345405 D RGD:9068941 20200609 RGD DNA:translocation: : PMID:12181402|REF_RGD_ID:10450606 11771223 ETV6 ETS variant transcription factor 6 gene DOID:303 substance-related disorder ISO RGD:1345405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11771223 ETV6 ETS variant transcription factor 6 gene DOID:630 genetic disease ISO RGD:1345405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11771223 ETV6 ETS variant transcription factor 6 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1345405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11771223 ETV6 ETS variant transcription factor 6 gene DOID:9001067 Familial Macrocytosis ISO RGD:1345405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25807284 11771223 ETV6 ETS variant transcription factor 6 gene DOID:9005805 Thrombocytopenia 5 ISO RGD:1345405 D RGD:7240710 20180130 OMIM 11771223 ETV6 ETS variant transcription factor 6 gene DOID:9005805 Thrombocytopenia 5 ISO RGD:1345405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 5 PMID:15806161|PMID:17988997|PMID:18305557|PMID:21680795|PMID:21714648|PMID:24904105|PMID:24997145|PMID:25581430|PMID:25741868|PMID:25807284|PMID:26102509|PMID:26522332|PMID:27365488|PMID:27895058|PMID:28492532|PMID:29365323|PMID:31064749|PMID:31248877|PMID:31704777|PMID:32693409|PMID:33179473|PMID:33226740|PMID:33768492|PMID:34355501|PMID:9694803 11771223 ETV6 ETS variant transcription factor 6 gene DOID:9006532 Hematologic Neoplasms ISO RGD:1345405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hematologic neoplasm PMID:15806161|PMID:18305557|PMID:21680795|PMID:21714648|PMID:24904105|PMID:24997145|PMID:25581430|PMID:25741868|PMID:25807284|PMID:26102509|PMID:26522332|PMID:27895058|PMID:28492532|PMID:31248877|PMID:31704777|PMID:32693409|PMID:33226740|PMID:33768492|PMID:9694803 11771223 ETV6 ETS variant transcription factor 6 gene DOID:9119 acute myeloid leukemia ISO RGD:1345405 D RGD:7240710 20180130 OMIM 11771223 ETV6 ETS variant transcription factor 6 gene DOID:9119 acute myeloid leukemia ISO RGD:1345405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:15806161|PMID:25581430|PMID:25741868|PMID:25807284|PMID:28492532|PMID:31248877|PMID:31704777|PMID:33226740|PMID:33768492 11771223 ETV6 ETS variant transcription factor 6 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1345405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute lymphoid leukemia 11771234 BMP15 bone morphogenetic protein 15 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:730933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11771234 BMP15 bone morphogenetic protein 15 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:730933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 11771234 BMP15 bone morphogenetic protein 15 gene DOID:0080494 ovarian dysgenesis 2 ISO RGD:730933 D RGD:7240710 20180130 OMIM 11771234 BMP15 bone morphogenetic protein 15 gene DOID:0080494 ovarian dysgenesis 2 ISO RGD:730933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 2 | ClinVar Annotator: match by term: Premature ovarian failure 4 PMID:15136966|PMID:16464940|PMID:16508750|PMID:16645022|PMID:18614612|PMID:19263482|PMID:20364024|PMID:20547206|PMID:25741868|PMID:28492532|PMID:31957178 11771234 BMP15 bone morphogenetic protein 15 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:730933 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 11771234 BMP15 bone morphogenetic protein 15 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:730933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11771234 BMP15 bone morphogenetic protein 15 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:730933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11771234 BMP15 bone morphogenetic protein 15 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:730933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11771234 BMP15 bone morphogenetic protein 15 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:730933 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 11771234 BMP15 bone morphogenetic protein 15 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:730933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 11771234 BMP15 bone morphogenetic protein 15 gene DOID:11612 polycystic ovary syndrome ISO RGD:730933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22825968 11771234 BMP15 bone morphogenetic protein 15 gene DOID:12849 autistic disorder ISO RGD:730933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11771234 BMP15 bone morphogenetic protein 15 gene DOID:13938 amenorrhea ISO RGD:730933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11771234 BMP15 bone morphogenetic protein 15 gene DOID:5426 primary ovarian insufficiency susceptibility ISO RGD:730933 D RGD:9068941 20200609 RGD DNA:missense mutations: ;-9C>G, 308A>G, 852C>T PMID:16508750|REF_RGD_ID:1599496 11771234 BMP15 bone morphogenetic protein 15 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:730933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome 11771234 BMP15 bone morphogenetic protein 15 gene DOID:630 genetic disease ISO RGD:730933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771234 BMP15 bone morphogenetic protein 15 gene DOID:9004914 Postmenopausal Osteoporosis susceptibility ISO RGD:730933 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:5' utr, intron:g.-9C>G, IVS1+905A>G (human) PMID:22335445|REF_RGD_ID:10045849 11771241 DEPDC1B DEP domain containing 1B gene DOID:0080600 COVID-19 ISO RGD:1314052 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11771241 DEPDC1B DEP domain containing 1B gene DOID:630 genetic disease ISO RGD:1314052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771241 DEPDC1B DEP domain containing 1B gene DOID:684 hepatocellular carcinoma ISO RGD:1314052 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11771241 DEPDC1B DEP domain containing 1B gene DOID:9002649 Acrodysostosis 2, with or without Hormone Resistance ISO RGD:1314052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance PMID:21681106|PMID:24203977 11771241 DEPDC1B DEP domain containing 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11771263 CD207 CD207 molecule gene DOID:543 dystonia ISO RGD:1347897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11771263 CD207 CD207 molecule gene DOID:630 genetic disease ISO RGD:1347897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771263 CD207 CD207 molecule gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1347897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11771273 ZNF8 zinc finger protein 8 gene DOID:630 genetic disease ISO RGD:1321682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771291 LOC100979219 RNA-binding protein 4B gene DOID:1059 intellectual disability ISO RGD:1351687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11771291 LOC100979219 RNA-binding protein 4B gene DOID:630 genetic disease ISO RGD:1351687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771291 LOC100979219 RNA-binding protein 4B gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1351687 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11771291 LOC100979219 RNA-binding protein 4B gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1351687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11771310 IRGC immunity related GTPase cinema gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1606259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 11771310 IRGC immunity related GTPase cinema gene DOID:5419 schizophrenia ISO RGD:1606259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11771310 IRGC immunity related GTPase cinema gene DOID:630 genetic disease ISO RGD:1606259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771321 KDM4D lysine demethylase 4D gene DOID:1059 intellectual disability ISO RGD:1353550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11771321 KDM4D lysine demethylase 4D gene DOID:12704 ataxia telangiectasia ISO RGD:1353550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11771321 KDM4D lysine demethylase 4D gene DOID:2154 nephroblastoma ISO RGD:1353550 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (human) PMID:24219278|REF_RGD_ID:9588525 11771321 KDM4D lysine demethylase 4D gene DOID:630 genetic disease ISO RGD:1353550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771328 KCP kielin cysteine rich BMP regulator gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1601689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 PMID:28492532 11771328 KCP kielin cysteine rich BMP regulator gene DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 ISO RGD:1601689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F PMID:28492532 11771328 KCP kielin cysteine rich BMP regulator gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11771328 KCP kielin cysteine rich BMP regulator gene DOID:630 genetic disease ISO RGD:1601689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771369 RBX1 ring-box 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1318229 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 11771369 RBX1 ring-box 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1318229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11771369 RBX1 ring-box 1 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1318229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 11771369 RBX1 ring-box 1 gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:1318229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 PMID:28492532 11771369 RBX1 ring-box 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1318229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:15706485|PMID:24476420|PMID:28492532 11771378 LOC100981642 huntingtin-interacting protein M gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11771378 LOC100981642 huntingtin-interacting protein M gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:1353521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked PMID:22929960|PMID:27701760|PMID:28492532 11771378 LOC100981642 huntingtin-interacting protein M gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1353521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 11771378 LOC100981642 huntingtin-interacting protein M gene DOID:12849 autistic disorder ISO RGD:1353521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11771378 LOC100981642 huntingtin-interacting protein M gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11771378 LOC100981642 huntingtin-interacting protein M gene DOID:9007661 Dwarfism ISO RGD:1353521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11771378 LOC100981642 huntingtin-interacting protein M gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1353521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:10946359|PMID:11793468|PMID:16786505|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 11771378 LOC100981642 huntingtin-interacting protein M gene DOID:9562 primary ciliary dyskinesia ISO RGD:1353521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11771383 FEZF1 FEZ family zinc finger 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1604689 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25741868|PMID:28492532 11771383 FEZF1 FEZ family zinc finger 1 gene DOID:0090081 hypogonadotropic hypogonadism 22 with or without anosmia ISO RGD:1604689 D RGD:7240710 20180130 OMIM 11771383 FEZF1 FEZ family zinc finger 1 gene DOID:0090081 hypogonadotropic hypogonadism 22 with or without anosmia ISO RGD:1604689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 22 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 22 with or without anosmia PMID:25192046|PMID:25741868 11771383 FEZF1 FEZ family zinc finger 1 gene DOID:13938 amenorrhea ISO RGD:1604689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 11771383 FEZF1 FEZ family zinc finger 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11771383 FEZF1 FEZ family zinc finger 1 gene DOID:630 genetic disease ISO RGD:1604689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771405 LOC100983049 olfactory receptor 4P4 gene DOID:1059 intellectual disability ISO RGD:1349189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11771405 LOC100983049 olfactory receptor 4P4 gene DOID:630 genetic disease ISO RGD:1349189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771406 RAB23 RAB23, member RAS oncogene family gene DOID:0060234 Carpenter syndrome ISO RGD:1315728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ACPS 2 | ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome PMID:16199547|PMID:17503333|PMID:17576681|PMID:20358613|PMID:21412941|PMID:23599695|PMID:24458945|PMID:25168863|PMID:25741868|PMID:28492532|PMID:9536098 11771406 RAB23 RAB23, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1315728 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17503333|PMID:17576681|PMID:21412941|PMID:24458945|PMID:25741868|PMID:28492532|PMID:9536098 11771406 RAB23 RAB23, member RAS oncogene family gene DOID:9005101 Carpenter Syndrome 1 ISO RGD:1315728 D RGD:7240710 20180130 OMIM 11771406 RAB23 RAB23, member RAS oncogene family gene DOID:9005101 Carpenter Syndrome 1 ISO RGD:1315728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 1 PMID:17503333|PMID:20358613|PMID:21412941|PMID:23599695|PMID:24458945|PMID:25741868|PMID:28492532 11771406 RAB23 RAB23, member RAS oncogene family gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11771428 RRAGB Ras related GTP binding B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11771428 RRAGB Ras related GTP binding B gene DOID:12849 autistic disorder ISO RGD:1343212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11771428 RRAGB Ras related GTP binding B gene DOID:630 genetic disease ISO RGD:1343212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771446 TMEM87A transmembrane protein 87A gene DOID:2717 Bloom syndrome ISO RGD:1603672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11771446 TMEM87A transmembrane protein 87A gene DOID:630 genetic disease ISO RGD:1603672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771446 TMEM87A transmembrane protein 87A gene DOID:9256 colorectal cancer ISO RGD:1603672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11771481 SYCP2L synaptonemal complex protein 2 like gene DOID:630 genetic disease ISO RGD:1604969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771547 NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:0050700 cardiomyopathy ISO RGD:734286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14729820 11771547 NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:734286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11771547 NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:734286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25741868|PMID:28492532|PMID:9570948 11771547 NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:734286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532|PMID:9570948 11771547 NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:0112092 nuclear type mitochondrial complex I deficiency 7 ISO RGD:734286 D RGD:7240710 20190315 OMIM 11771547 NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:0112092 nuclear type mitochondrial complex I deficiency 7 ISO RGD:734286 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 PMID:25741868|PMID:26008862|PMID:28492532|PMID:30369941|PMID:9570948 11771547 NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:1059 intellectual disability ISO RGD:734286 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11771547 NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:734286 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A29V PMID:9570948|REF_RGD_ID:2302386 11771547 NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:3312 bipolar disorder ISO RGD:734286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19135101 11771547 NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:5419 schizophrenia ISO RGD:734286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19135101 11771547 NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:543 dystonia ISO RGD:734286 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 11771547 NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:630 genetic disease ISO RGD:734286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771547 NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:890 mitochondrial encephalomyopathy ISO RGD:734286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14729820 11771547 NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:9002877 Parkinson's Disease, Mitochondrial ISO RGD:734286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, mitochondrial PMID:25741868|PMID:28492532|PMID:9570948 11771564 RHOF ras homolog family member F, filopodia associated gene DOID:630 genetic disease ISO RGD:1352247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771589 NTMT1 N-terminal Xaa-Pro-Lys N-methyltransferase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1606300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11771589 NTMT1 N-terminal Xaa-Pro-Lys N-methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1606300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771632 RHOJ ras homolog family member J gene DOID:0050700 cardiomyopathy ISO RGD:1321483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21037199 11771632 RHOJ ras homolog family member J gene DOID:630 genetic disease ISO RGD:1321483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771632 RHOJ ras homolog family member J gene DOID:9002928 Colonic Neoplasms ISO RGD:1321483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 11771646 MAS1L MAS1 proto-oncogene like, G protein-coupled receptor gene DOID:11372 megacolon ISO RGD:1351772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11771646 MAS1L MAS1 proto-oncogene like, G protein-coupled receptor gene DOID:630 genetic disease ISO RGD:1351772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771650 CNIH4 cornichon family AMPA receptor auxiliary protein 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1606011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11771650 CNIH4 cornichon family AMPA receptor auxiliary protein 4 gene DOID:630 genetic disease ISO RGD:1606011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771650 CNIH4 cornichon family AMPA receptor auxiliary protein 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11771664 ANKFY1 ankyrin repeat and FYVE domain containing 1 gene DOID:0050946 Charlevoix-Saguenay spastic ataxia ISO RGD:1320022 D RGD:9068941 20220825 MouseDO OMIM:270550 11771664 ANKFY1 ankyrin repeat and FYVE domain containing 1 gene DOID:11054 urinary bladder cancer ISO RGD:1320021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 11771664 ANKFY1 ankyrin repeat and FYVE domain containing 1 gene DOID:630 genetic disease ISO RGD:1320021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771704 MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1322701 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11771704 MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase gene DOID:0080600 COVID-19 ISO RGD:1322701 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11771704 MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase gene DOID:543 dystonia ISO RGD:1322701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11771704 MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase gene DOID:6000 congestive heart failure ISO RGD:1322701 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 11771704 MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase gene DOID:630 genetic disease ISO RGD:1322701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771704 MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase gene DOID:684 hepatocellular carcinoma ISO RGD:1311313 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:3878730|REF_RGD_ID:2302305 11771704 MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase gene DOID:8567 Hodgkin's lymphoma ISO RGD:1322701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24688052 11771704 MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1322701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11771717 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:0070111 Niemann-Pick disease type A ISO RGD:1349414 D RGD:7240710 20180130 OMIM 11771717 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:0070111 Niemann-Pick disease type A ISO RGD:1349414 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type A | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:10464620|PMID:10694919|PMID:12369017|PMID:12556236|PMID:12607113|PMID:12712061|PMID:1301192|PMID:1391960|PMID:14681755|PMID:15221801|PMID:15234149|PMID:15241805|PMID:15545621|PMID:15557261|PMID:15612058|PMID:15653433|PMID:15877209|PMID:16010684|PMID:16151905|PMID:1618760|PMID:16199547|PMID:16264060|PMID:16434659|PMID:16472269|PMID:16642440|PMID:17011332|PMID:1718266|PMID:17360762|PMID:17876723|PMID:18052040|PMID:1840600|PMID:18625664|PMID:18815062|PMID:1885770|PMID:19050888|PMID:19405096|PMID:19411774|PMID:20111001|PMID:2023926|PMID:20386867|PMID:21098024|PMID:21228398|PMID:21454466|PMID:21502868|PMID:21621718|PMID:22367733|PMID:22796693|PMID:22818240|PMID:23188845|PMID:23252888|PMID:23356216|PMID:23412609|PMID:23415435|PMID:23418865|PMID:23420949|PMID:23430512|PMID:23430884|PMID:23430949|PMID:23535491|PMID:23757202|PMID:23871123|PMID:24033266|PMID:24446175|PMID:24718843|PMID:24767253|PMID:25144372|PMID:25301364|PMID:25741868|PMID:25811928|PMID:25834946|PMID:25920558|PMID:25933391|PMID:26046366|PMID:26049896|PMID:26169295|PMID:26169695|PMID:26320887|PMID:26377108|PMID:26499107|PMID:26550340|PMID:26790753|PMID:26851525|PMID:26913189|PMID:26981555|PMID:26990548|PMID:27238910|PMID:27243974|PMID:27338287|PMID:27349982|PMID:27435900|PMID:27659707|PMID:27725636|PMID:27814975|PMID:27865842|PMID:28255779|PMID:28259515|PMID:28302345|PMID:28475290|PMID:28492532|PMID:28590786|PMID:28600779|PMID:28703315|PMID:28801223|PMID:29140481|PMID:29485843|PMID:29556840|PMID:29966168|PMID:29995201|PMID:30153451|PMID:30788890|PMID:30795770|PMID:30912297|PMID:31122880|PMID:31139477|PMID:31965297|PMID:31980526|PMID:32036093|PMID:32071839|PMID:32280632|PMID:32292456|PMID:32375665|PMID:32714837|PMID:32860008|PMID:33083013|PMID:33100332|PMID:33675270|PMID:34273913|PMID:34867278|PMID:35342016|PMID:35747619|PMID:36195244|PMID:7762557|PMID:8051942|PMID:8053910|PMID:8401540|PMID:8407868|PMID:8499909|PMID:8664904|PMID:8680412|PMID:8693491|PMID:9042807|PMID:9266408 11771717 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:0070112 Niemann-Pick disease type B ISO RGD:1349414 D RGD:7240710 20180130 OMIM 11771717 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:0070112 Niemann-Pick disease type B ISO RGD:1349414 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:10464620|PMID:10694919|PMID:12369017|PMID:12556236|PMID:12607113|PMID:12694237|PMID:12712061|PMID:1301192|PMID:1391960|PMID:14681755|PMID:15221801|PMID:15234149|PMID:15241805|PMID:15545621|PMID:15557261|PMID:15653433|PMID:15877209|PMID:16010684|PMID:16151905|PMID:1618760|PMID:16199547|PMID:16264060|PMID:16434659|PMID:16472269|PMID:16642440|PMID:17011332|PMID:1718266|PMID:17360762|PMID:17876723|PMID:18052040|PMID:1840600|PMID:18625664|PMID:18815062|PMID:1885770|PMID:19050888|PMID:19405096|PMID:19411774|PMID:20111001|PMID:2023926|PMID:20386867|PMID:21098024|PMID:21228398|PMID:21454466|PMID:21502868|PMID:21621718|PMID:22367733|PMID:22796693|PMID:22818240|PMID:23188845|PMID:23252888|PMID:23356216|PMID:23412609|PMID:23415435|PMID:23418865|PMID:23420949|PMID:23430512|PMID:23430884|PMID:23430949|PMID:23535491|PMID:23724191|PMID:23757202|PMID:23871123|PMID:24033266|PMID:24446175|PMID:24643943|PMID:24718843|PMID:24767253|PMID:25144372|PMID:25741868|PMID:25811928|PMID:25834946|PMID:25920558|PMID:25933391|PMID:26046366|PMID:26049896|PMID:26084044|PMID:26169295|PMID:26169695|PMID:26320887|PMID:26377108|PMID:26499107|PMID:26550340|PMID:26790753|PMID:26851525|PMID:26913189|PMID:26981555|PMID:26990548|PMID:27238910|PMID:27243974|PMID:27338287|PMID:27349982|PMID:27435900|PMID:27659707|PMID:27725636|PMID:27814975|PMID:27865842|PMID:27884455|PMID:28255779|PMID:28259515|PMID:28302345|PMID:28475290|PMID:28492532|PMID:28590786|PMID:28600779|PMID:28703315|PMID:28801223|PMID:29140481|PMID:29485843|PMID:29556840|PMID:29966168|PMID:29995201|PMID:30153451|PMID:30788890|PMID:30795770|PMID:30912297|PMID:31122880|PMID:31139477|PMID:31965297|PMID:31980526|PMID:32005694|PMID:32036093|PMID:32071839|PMID:32292456|PMID:32375665|PMID:32714837|PMID:32860008|PMID:33083013|PMID:33100332|PMID:33675270|PMID:34273913|PMID:34660203|PMID:34867278|PMID:35747619|PMID:7762557|PMID:8051942|PMID:8053910|PMID:8225311|PMID:8401540|PMID:8407868|PMID:8499909|PMID:8664904|PMID:8680412|PMID:8693491|PMID:9042807|PMID:9266408 11771717 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1349414 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, subacute juvenile form PMID:1391960|PMID:15221801|PMID:18815062|PMID:1885770|PMID:2023926|PMID:25741868|PMID:27338287|PMID:27725636|PMID:28492532|PMID:31965297|PMID:32292456 11771717 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:1349414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 6A PMID:12369017|PMID:15221801|PMID:15234149|PMID:15241805|PMID:19405096|PMID:23252888|PMID:23430884|PMID:24767253|PMID:25741868|PMID:26499107|PMID:28492532 11771717 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:1059 intellectual disability ISO RGD:1349414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11771717 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1349414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11771717 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:14504 Niemann-Pick disease ISO RGD:1349414 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acid sphingomyelinase deficiency | ClinVar Annotator: match by term: Niemann-Pick disease PMID:1391960|PMID:15221801|PMID:18815062|PMID:1885770|PMID:2023926|PMID:25741868|PMID:27338287|PMID:27725636|PMID:28492532|PMID:31965297|PMID:32292456 11771717 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:14504 Niemann-Pick disease susceptibility ISO RGD:1349414 D RGD:9068941 20200609 RGD Niemann-Pick Disease, Type A, OMIM:257200, Type B, OMIM:607616;DNA:deletions, missense mutations: :multiple PMID:12556236|REF_RGD_ID:1601336 11771717 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:1926 Gaucher's disease ISO RGD:1349414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gaucher disease PMID:25741868|PMID:28492532 11771717 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:557 kidney disease ISO RGD:1349414 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26980705 11771717 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:630 genetic disease ISO RGD:1349414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12369017|PMID:14681755|PMID:15234149|PMID:15241805|PMID:15877209|PMID:17011332|PMID:20111001|PMID:22367733|PMID:23252888|PMID:23412609|PMID:23420949|PMID:23430949|PMID:23871123|PMID:25741868|PMID:26499107|PMID:26550340|PMID:26981555|PMID:28255779|PMID:28259515|PMID:28492532|PMID:28590786|PMID:28703315|PMID:29556840|PMID:30788890|PMID:30795770|PMID:9266408 11771717 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:893 Wilson disease severity ISO RGD:1549719 D RGD:9068941 20200609 RGD PMID:17259995|REF_RGD_ID:1601345 11771717 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1349414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24951586 11771717 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:9004942 Niemann-Pick Disease, Intermediate, Protracted Neurovisceral ISO RGD:1349414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Niemann-pick disease, intermediate, protracted neurovisceral PMID:14681755|PMID:15234149|PMID:15241805|PMID:15877209|PMID:17011332|PMID:17360762|PMID:23412609|PMID:23420949|PMID:23430949|PMID:25741868|PMID:26981555|PMID:28492532|PMID:28703315|PMID:7762557|PMID:8051942|PMID:9266408 11771717 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1549719 D RGD:9068941 20200609 RGD protein:decreased expression:gastrocnemius PMID:14983401|REF_RGD_ID:1601347 11771736 KBTBD6 kelch repeat and BTB domain containing 6 gene DOID:630 genetic disease ISO RGD:1346287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771763 LOC103785397 probable ATP-dependent RNA helicase DDX28 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1323712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11771763 LOC103785397 probable ATP-dependent RNA helicase DDX28 gene DOID:630 genetic disease ISO RGD:1323712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771798 PCDHAC2 protocadherin alpha subfamily C, 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1346435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11771798 PCDHAC2 protocadherin alpha subfamily C, 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1346435 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11771798 PCDHAC2 protocadherin alpha subfamily C, 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1346435 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 11771798 PCDHAC2 protocadherin alpha subfamily C, 2 gene DOID:630 genetic disease ISO RGD:1346435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771798 PCDHAC2 protocadherin alpha subfamily C, 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11771798 PCDHAC2 protocadherin alpha subfamily C, 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346435 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11771813 UBE2L3 ubiquitin conjugating enzyme E2 L3 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1318085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 11771813 UBE2L3 ubiquitin conjugating enzyme E2 L3 gene DOID:11198 DiGeorge syndrome ISO RGD:1318085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 11771813 UBE2L3 ubiquitin conjugating enzyme E2 L3 gene DOID:630 genetic disease ISO RGD:1318085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771813 UBE2L3 ubiquitin conjugating enzyme E2 L3 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1318085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24162738 11771821 GALNT9 polypeptide N-acetylgalactosaminyltransferase 9 gene DOID:630 genetic disease ISO RGD:69656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771841 ACO1 aconitase 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:2019 D RGD:9068941 20200609 RGD protein:increased activity:liver PMID:23805238|REF_RGD_ID:11541090 11771841 ACO1 aconitase 1 gene DOID:1724 duodenal ulcer ISO RGD:2019 D RGD:9068941 20200609 RGD protein:increased activity:duodenal mucosa PMID:19342511|REF_RGD_ID:11541091 11771841 ACO1 aconitase 1 gene DOID:630 genetic disease ISO RGD:10067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771841 ACO1 aconitase 1 gene DOID:8398 osteoarthritis ISO RGD:10067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11771841 ACO1 aconitase 1 gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:2019 D RGD:9068941 20200609 RGD PMID:20176611|REF_RGD_ID:11541086 11771841 ACO1 aconitase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:10067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20390345 11771841 ACO1 aconitase 1 gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:2019 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:22639386|REF_RGD_ID:11541085 11771873 TPP1 tripeptidyl peptidase 1 gene DOID:0080059 autosomal recessive spinocerebellar ataxia 7 ISO RGD:1603717 D RGD:7240710 20180130 OMIM 11771873 TPP1 tripeptidyl peptidase 1 gene DOID:0080059 autosomal recessive spinocerebellar ataxia 7 ISO RGD:1603717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 7 PMID:10330339|PMID:10862088|PMID:11339651|PMID:12376936|PMID:15520412|PMID:16199547|PMID:17576681|PMID:18684116|PMID:20340139|PMID:21990111|PMID:22612257|PMID:22752289|PMID:23266810|PMID:23418007|PMID:23539563|PMID:25356970|PMID:25741868|PMID:26224725|PMID:26467025|PMID:28335910|PMID:28492532|PMID:30771299|PMID:31283065|PMID:31489614|PMID:32329550|PMID:32855042|PMID:34126256|PMID:9295267|PMID:9536098|PMID:9788728 11771873 TPP1 tripeptidyl peptidase 1 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1603717 D RGD:7240710 20180130 OMIM 11771873 TPP1 tripeptidyl peptidase 1 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1603717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11462245|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29655203|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31059981|PMID:31283065|PMID:31489614|PMID:31741823|PMID:32146219|PMID:33348105|PMID:9295267|PMID:9536098|PMID:9788728 11771873 TPP1 tripeptidyl peptidase 1 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1603717 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31059981|PMID:31283065|PMID:31489614|PMID:31741823|PMID:32146219|PMID:33348105|PMID:9295267|PMID:9536098|PMID:9788728 11771873 TPP1 tripeptidyl peptidase 1 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1603717 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20301601|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28165011|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29631617|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31059981|PMID:31283065|PMID:31489614|PMID:31741823|PMID:32146219|PMID:33348105|PMID:34849271|PMID:9295267|PMID:9536098|PMID:9788728 11771873 TPP1 tripeptidyl peptidase 1 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1603717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11462245|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20301601|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22344438|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28165011|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29631617|PMID:29655203|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:30831263|PMID:31059981|PMID:31139143|PMID:31283065|PMID:31489614|PMID:31589614|PMID:31741823|PMID:32005694|PMID:32146219|PMID:32329550|PMID:32580858|PMID:32855042|PMID:33348105|PMID:33377563|PMID:34126256|PMID:34849271|PMID:35314707|PMID:9295267|PMID:9536098|PMID:9788728 11771873 TPP1 tripeptidyl peptidase 1 gene DOID:1059 intellectual disability ISO RGD:1603717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11771873 TPP1 tripeptidyl peptidase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1603717 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10320038 11771873 TPP1 tripeptidyl peptidase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10330339|PMID:10356316|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11071145|PMID:11339651|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20340139|PMID:21990111|PMID:22245569|PMID:22612257|PMID:22832778|PMID:23266810|PMID:23418007|PMID:23539563|PMID:24033266|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26026925|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:28335910|PMID:28464005|PMID:28492532|PMID:29056246|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31216804|PMID:31283065|PMID:31489614|PMID:31741823|PMID:32146219|PMID:33348105|PMID:9295267|PMID:9536098|PMID:9788728 11771873 TPP1 tripeptidyl peptidase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603717 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10330339|PMID:10356316|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11339651|PMID:11589013|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20301601|PMID:20340139|PMID:21990111|PMID:22245569|PMID:22344438|PMID:22612257|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26026925|PMID:26075876|PMID:26143525|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27146152|PMID:27407112|PMID:27553520|PMID:28165011|PMID:28335910|PMID:28464005|PMID:28492532|PMID:29631617|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31059981|PMID:31139143|PMID:31283065|PMID:31489614|PMID:31589614|PMID:31741823|PMID:32146219|PMID:32329550|PMID:33348105|PMID:33377563|PMID:35314707|PMID:9295267|PMID:9536098|PMID:9788728 11771873 TPP1 tripeptidyl peptidase 1 gene DOID:1826 epilepsy ISO RGD:1603717 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:10330339|PMID:18414213|PMID:19038966|PMID:21990111|PMID:22752289|PMID:22832778|PMID:23266810|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25741868|PMID:26467025|PMID:27553520|PMID:27776828|PMID:28492532|PMID:28717666|PMID:31283065|PMID:31489614|PMID:34849271 11771873 TPP1 tripeptidyl peptidase 1 gene DOID:1826 epilepsy ISO RGD:1603717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26467025|PMID:28492532|PMID:31283065 11771873 TPP1 tripeptidyl peptidase 1 gene DOID:1932 Angelman syndrome ISO RGD:1603717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:10330339|PMID:21990111|PMID:25741868|PMID:28492532|PMID:30792901 11771873 TPP1 tripeptidyl peptidase 1 gene DOID:630 genetic disease ISO RGD:1603717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10330339|PMID:10356316|PMID:10665500|PMID:11017954|PMID:11071145|PMID:11339651|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:15317752|PMID:15520412|PMID:16199547|PMID:16782851|PMID:16814585|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19201763|PMID:19793312|PMID:20301601|PMID:20340139|PMID:21990111|PMID:22245569|PMID:22344438|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25356970|PMID:25741868|PMID:26026925|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27604308|PMID:27776828|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28717666|PMID:30541466|PMID:31283065|PMID:31489614|PMID:32329550|PMID:34849271|PMID:9295267|PMID:9536098|PMID:9788728 11771873 TPP1 tripeptidyl peptidase 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1603717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:25741868|PMID:26467025|PMID:28492532 11771873 TPP1 tripeptidyl peptidase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1603717 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11771873 TPP1 tripeptidyl peptidase 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1603717 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:10330339|PMID:11017954|PMID:11071145|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12796825|PMID:12950156|PMID:15317752|PMID:16782851|PMID:16814585|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18473686|PMID:18684116|PMID:19201763|PMID:19793312|PMID:20301601|PMID:21990111|PMID:22245569|PMID:23266810|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26026925|PMID:26075876|PMID:26467025|PMID:26795593|PMID:27407112|PMID:27553520|PMID:28464005|PMID:28492532|PMID:9295267|PMID:9788728 11771890 HEBP1 heme binding protein 1 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1312101 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 11771890 HEBP1 heme binding protein 1 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1312101 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 11771890 HEBP1 heme binding protein 1 gene DOID:0080600 COVID-19 ISO RGD:1312101 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11771890 HEBP1 heme binding protein 1 gene DOID:630 genetic disease ISO RGD:1312101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771898 RBM22 RNA binding motif protein 22 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314003 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11771898 RBM22 RNA binding motif protein 22 gene DOID:630 genetic disease ISO RGD:1314003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771898 RBM22 RNA binding motif protein 22 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314003 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11771913 TTL tubulin tyrosine ligase gene DOID:630 genetic disease ISO RGD:732112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771928 NHERF2 NHERF family PDZ scaffold protein 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:733001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 11771928 NHERF2 NHERF family PDZ scaffold protein 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:733001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11771928 NHERF2 NHERF family PDZ scaffold protein 2 gene DOID:10763 hypertension ISO RGD:620380 D RGD:9068941 20200609 RGD PMID:15311100|REF_RGD_ID:1580741 11771928 NHERF2 NHERF family PDZ scaffold protein 2 gene DOID:10763 hypertension ISO RGD:733001 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 11771928 NHERF2 NHERF family PDZ scaffold protein 2 gene DOID:1826 epilepsy ISO RGD:733001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11771928 NHERF2 NHERF family PDZ scaffold protein 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:733001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11771928 NHERF2 NHERF family PDZ scaffold protein 2 gene DOID:630 genetic disease ISO RGD:733001 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771947 LIMD2 LIM domain containing 2 gene DOID:630 genetic disease ISO RGD:1603297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771947 LIMD2 LIM domain containing 2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1603297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 11771947 LIMD2 LIM domain containing 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1603297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 11771955 KCNA2 potassium voltage-gated channel subfamily A member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:735518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 11771955 KCNA2 potassium voltage-gated channel subfamily A member 2 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:735518 D RGD:7240710 20180130 OMIM 11771955 KCNA2 potassium voltage-gated channel subfamily A member 2 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:735518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 32 | ClinVar Annotator: match by term: KCNA2-Related Disorder PMID:15694325|PMID:16002579|PMID:17634333|PMID:18414213|PMID:20696761|PMID:21044565|PMID:25477152|PMID:25741868|PMID:25751627|PMID:25950944|PMID:26467025|PMID:26599217|PMID:27062609|PMID:27117551|PMID:27457812|PMID:27543892|PMID:27733563|PMID:28019661|PMID:28032718|PMID:28204960|PMID:28492532|PMID:28806589|PMID:29050392|PMID:29100083|PMID:30182498|PMID:30283815|PMID:31170314|PMID:33232902|PMID:33624935|PMID:33802230|PMID:8663992|PMID:8663993 11771955 KCNA2 potassium voltage-gated channel subfamily A member 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:735518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:15694325|PMID:16002579|PMID:21044565|PMID:25477152|PMID:25741868|PMID:25751627|PMID:27733563|PMID:28492532|PMID:8663992|PMID:8663993 11771955 KCNA2 potassium voltage-gated channel subfamily A member 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:735518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11771955 KCNA2 potassium voltage-gated channel subfamily A member 2 gene DOID:1059 intellectual disability ISO RGD:735518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25751627 11771955 KCNA2 potassium voltage-gated channel subfamily A member 2 gene DOID:12849 autistic disorder ISO RGD:735518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11771955 KCNA2 potassium voltage-gated channel subfamily A member 2 gene DOID:1826 epilepsy ISO RGD:735518 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11771955 KCNA2 potassium voltage-gated channel subfamily A member 2 gene DOID:630 genetic disease ISO RGD:735518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15694325|PMID:16002579|PMID:21044565|PMID:25477152|PMID:25741868|PMID:25751627|PMID:26467025|PMID:26648591|PMID:27062609|PMID:27457812|PMID:27543892|PMID:27733563|PMID:28019661|PMID:28032718|PMID:28492532|PMID:28806589|PMID:29050392|PMID:30182498|PMID:33232902|PMID:33802230|PMID:8663992|PMID:8663993 11771955 KCNA2 potassium voltage-gated channel subfamily A member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:15694325|PMID:16002579|PMID:21044565|PMID:25477152|PMID:25741868|PMID:25751627|PMID:27733563|PMID:28492532|PMID:8663992|PMID:8663993 11771955 KCNA2 potassium voltage-gated channel subfamily A member 2 gene DOID:9005466 Language Development Disorders ISO RGD:735518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25751627 11771955 KCNA2 potassium voltage-gated channel subfamily A member 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2950 D RGD:9068941 20200609 RGD PMID:17982915|REF_RGD_ID:7242761 11771955 KCNA2 potassium voltage-gated channel subfamily A member 2 gene DOID:9008086 Developmental Disabilities ISO RGD:735518 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11771955 KCNA2 potassium voltage-gated channel subfamily A member 2 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:735518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15088113 11771974 GABRE gamma-aminobutyric acid type A receptor subunit epsilon gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:68441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11771974 GABRE gamma-aminobutyric acid type A receptor subunit epsilon gene DOID:12849 autistic disorder ISO RGD:68441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11771974 GABRE gamma-aminobutyric acid type A receptor subunit epsilon gene DOID:630 genetic disease ISO RGD:68441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771974 GABRE gamma-aminobutyric acid type A receptor subunit epsilon gene DOID:684 hepatocellular carcinoma ISO RGD:68441 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 11771974 GABRE gamma-aminobutyric acid type A receptor subunit epsilon gene DOID:9007661 Dwarfism ISO RGD:68441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11771988 AICDA activation induced cytidine deaminase gene DOID:0050211 swine influenza disease_progression ISO RGD:1347771 D RGD:9068941 20200626 RGD PMID:23028320|REF_RGD_ID:32716383 11771988 AICDA activation induced cytidine deaminase gene DOID:0050211 swine influenza treatment ISO RGD:1347771 D RGD:9068941 20200702 RGD PMID:22281510|REF_RGD_ID:32716408 11771988 AICDA activation induced cytidine deaminase gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1347771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11771988 AICDA activation induced cytidine deaminase gene DOID:0060758 immunodeficiency with hyper-IgM type 2 ISO RGD:1347771 D RGD:7240710 20180829 OMIM 11771988 AICDA activation induced cytidine deaminase gene DOID:0060758 immunodeficiency with hyper-IgM type 2 ISO RGD:1347771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 PMID:11007475|PMID:11112359|PMID:12715918|PMID:12910268|PMID:14564357|PMID:14769937|PMID:14962793|PMID:15358621|PMID:15893695|PMID:16199547|PMID:16964591|PMID:17560278|PMID:17576681|PMID:18838546|PMID:20652909|PMID:21192628|PMID:22715099|PMID:23803409|PMID:24033266|PMID:24349193|PMID:24591601|PMID:25025377|PMID:25064858|PMID:25741868|PMID:26551569|PMID:27142677|PMID:27577878|PMID:28492532|PMID:32423680|PMID:9536098 11771988 AICDA activation induced cytidine deaminase gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1347771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11771988 AICDA activation induced cytidine deaminase gene DOID:0080544 hyper IgM syndrome ISO RGD:1347771 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11771988 AICDA activation induced cytidine deaminase gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1347771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11771988 AICDA activation induced cytidine deaminase gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1347771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11771988 AICDA activation induced cytidine deaminase gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1551301 D RGD:9068941 20200609 RGD PMID:20357822|REF_RGD_ID:11039456 11771988 AICDA activation induced cytidine deaminase gene DOID:0111546 Currarino syndrome ISO RGD:1347771 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:25741868 11771988 AICDA activation induced cytidine deaminase gene DOID:0111621 Temtamy syndrome ISO RGD:1347771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11771988 AICDA activation induced cytidine deaminase gene DOID:1037 lymphoid leukemia ISO RGD:1347771 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23589568 11771988 AICDA activation induced cytidine deaminase gene DOID:12365 malaria ISO RGD:1551301 D RGD:9068941 20200625 RGD protein:increased expression: B cell PMID:27980783|REF_RGD_ID:30310233 11771988 AICDA activation induced cytidine deaminase gene DOID:1273 respiratory syncytial virus infectious disease treatment ISO RGD:1551301 D RGD:9068941 20210625 RGD PMID:27721128|REF_RGD_ID:127285642 11771988 AICDA activation induced cytidine deaminase gene DOID:2043 hepatitis B treatment ISO RGD:1551301 D RGD:9068941 20200625 RGD PMID:28063995|REF_RGD_ID:30310232 11771988 AICDA activation induced cytidine deaminase gene DOID:2959 hyperimmunoglobulin syndrome ISO RGD:1347771 D RGD:9068941 20200609 RGD DNA:missense mutations:CDS:p.E58K (c.172G>A), p.C87R (c.259T>C), p.L113P (c.338T>C) (human) PMID:17553565|REF_RGD_ID:11039457 11771988 AICDA activation induced cytidine deaminase gene DOID:2959 hyperimmunoglobulin syndrome ISO RGD:1347771 D RGD:9068941 20200609 RGD DNA:splice-site mutation:intron:IVS2+1G>T (human) PMID:15372234|REF_RGD_ID:11039485 11771988 AICDA activation induced cytidine deaminase gene DOID:2959 hyperimmunoglobulin syndrome onset ISO RGD:1347771 D RGD:9068941 20200609 RGD DNA:missense mutations, nonsense mutation:exon:p.W84X, p.R112C, p.R112H (human) PMID:11112359|REF_RGD_ID:11039483 11771988 AICDA activation induced cytidine deaminase gene DOID:2959 hyperimmunoglobulin syndrome susceptibility ISO RGD:1347771 D RGD:9068941 20200609 RGD PMID:11007475|REF_RGD_ID:1598906 11771988 AICDA activation induced cytidine deaminase gene DOID:3721 plasmacytoma treatment ISO RGD:1551301 D RGD:9068941 20200609 RGD PMID:20404277|REF_RGD_ID:11039454 11771988 AICDA activation induced cytidine deaminase gene DOID:4029 gastritis ISO RGD:1551301 D RGD:9068941 20200609 RGD associated with Autoimmune Diseases PMID:18716662|REF_RGD_ID:11039453 11771988 AICDA activation induced cytidine deaminase gene DOID:417 autoimmune disease ISO RGD:1347771 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21305519 11771988 AICDA activation induced cytidine deaminase gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1347771 D RGD:9068941 20210625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:30219203|REF_RGD_ID:127285639 11771988 AICDA activation induced cytidine deaminase gene DOID:630 genetic disease ISO RGD:1347771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771988 AICDA activation induced cytidine deaminase gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1347771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome PMID:24033266|PMID:25741868|PMID:28492532 11771988 AICDA activation induced cytidine deaminase gene DOID:684 hepatocellular carcinoma ISO RGD:731885 D RGD:9068941 20210625 RGD PMID:18997814|REF_RGD_ID:127285629 11771988 AICDA activation induced cytidine deaminase gene DOID:707 B-cell lymphoma ISO RGD:1551301 D RGD:9068941 20200609 RGD PMID:17251349|REF_RGD_ID:11039449 11771988 AICDA activation induced cytidine deaminase gene DOID:9000081 Lymphatic Metastasis ISO RGD:1347771 D RGD:9068941 20210625 RGD associated with stomach cancer;protein:increased expression:stomach (human) PMID:21538122|REF_RGD_ID:127285638 11771988 AICDA activation induced cytidine deaminase gene DOID:9000242 Lymphoma, AIDS-Related disease_progression ISO RGD:1347771 D RGD:9068941 20200702 RGD PMID:18090274|REF_RGD_ID:32716407 11771988 AICDA activation induced cytidine deaminase gene DOID:9000386 Polyomavirus Infections ISO RGD:1347771 D RGD:9068941 20200625 RGD associated with Merkel cell carcinoma;protein:decreased expression:: PMID:28959124|REF_RGD_ID:30310234 11771988 AICDA activation induced cytidine deaminase gene DOID:9000509 Epstein-Barr Virus Infections ISO RGD:1347771 D RGD:9068941 20200626 RGD associated with malaria;mRNA:increased expression:B cell PMID:25099163|REF_RGD_ID:32716377 11771988 AICDA activation induced cytidine deaminase gene DOID:9000509 Epstein-Barr Virus Infections ISO RGD:1347771 D RGD:9068941 20200709 RGD mRNA:increased expression:T cell, natural killer cell PMID:21697063|REF_RGD_ID:32716387 11771988 AICDA activation induced cytidine deaminase gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1551301 D RGD:9068941 20200626 RGD PMID:26456931|REF_RGD_ID:11098923 11771988 AICDA activation induced cytidine deaminase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:1347771 D RGD:9068941 20200609 RGD PMID:21133730|REF_RGD_ID:11039455 11771988 AICDA activation induced cytidine deaminase gene DOID:9002473 Blast Crisis ISO RGD:1347771 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21570118 11771988 AICDA activation induced cytidine deaminase gene DOID:9003369 Strongylida Infections ISO RGD:1551301 D RGD:9068941 20200702 RGD PMID:23630966|REF_RGD_ID:32716404 11771988 AICDA activation induced cytidine deaminase gene DOID:9004017 Chronic Hepatitis C ISO RGD:1347771 D RGD:9068941 20200618 RGD mRNA:increased expression:B cell PMID:26219420|REF_RGD_ID:30296664 11771988 AICDA activation induced cytidine deaminase gene DOID:9004017 Chronic Hepatitis C ISO RGD:1347771 D RGD:9068941 20200626 RGD mRNA, protein:increased expression:B cell, CD19-positive (human) PMID:20189883|REF_RGD_ID:32716380 11771988 AICDA activation induced cytidine deaminase gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1347771 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:26946048|REF_RGD_ID:32716369 11771988 AICDA activation induced cytidine deaminase gene DOID:9004092 cryoglobulinemic vasculitis ISO RGD:1347771 D RGD:9068941 20200618 RGD associated with Chronic Hepatitis C; mRNA:increased expression:B cell, CD19-positive (human) PMID:26219420|REF_RGD_ID:30296664 11771988 AICDA activation induced cytidine deaminase gene DOID:9005099 Salmonella Infections, Animal severity ISO RGD:1551301 D RGD:9068941 20210625 RGD PMID:29743315|REF_RGD_ID:127285640 11771988 AICDA activation induced cytidine deaminase gene DOID:9006644 Retroviridae Infections exacerbates ISO RGD:1551301 D RGD:9068941 20210625 RGD PMID:16782033|REF_RGD_ID:127285628 11771988 AICDA activation induced cytidine deaminase gene DOID:9006644 Retroviridae Infections treatment ISO RGD:1551301 D RGD:9068941 20210625 RGD PMID:25378499|REF_RGD_ID:127285643 11771988 AICDA activation induced cytidine deaminase gene DOID:9007339 Alphavirus Infections severity ISO RGD:1551301 D RGD:9068941 20210625 RGD PMID:29321331|REF_RGD_ID:127285644 11771988 AICDA activation induced cytidine deaminase gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1347771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11771988 AICDA activation induced cytidine deaminase gene DOID:9008114 Helicobacter Infections ISO RGD:1347771 D RGD:9068941 20210625 RGD protein:increased expression:mucosa of stomach (human) PMID:23591766|REF_RGD_ID:127285627 11771988 AICDA activation induced cytidine deaminase gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:1347771 D RGD:9068941 20200609 RGD PMID:19759560|REF_RGD_ID:11039451 11771988 Aicda activation-induced cytidine deaminase gene DOID:9146 visceral leishmaniasis ISO RGD:1551301 D RGD:9068941 20200626 RGD PMID:31001826|REF_RGD_ID:32716386 11771999 SERPINE1 serpin family E member 1 gene DOID:0050830 peripheral artery disease ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human) PMID:9201602|REF_RGD_ID:8547710 11771999 SERPINE1 serpin family E member 1 gene DOID:0050847 sleep apnea ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20508215|REF_RGD_ID:4144827 11771999 SERPINE1 serpin family E member 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:18330639|REF_RGD_ID:4144837 11771999 SERPINE1 serpin family E member 1 gene DOID:0050851 glomerulosclerosis ISO RGD:3249 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (rat) PMID:27129290|REF_RGD_ID:11073688 11771999 SERPINE1 serpin family E member 1 gene DOID:0050851 glomerulosclerosis treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:26999660|REF_RGD_ID:11073618 11771999 SERPINE1 serpin family E member 1 gene DOID:0050855 renal fibrosis ISO RGD:3249 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:26869361|REF_RGD_ID:11073686 11771999 SERPINE1 serpin family E member 1 gene DOID:0050855 renal fibrosis treatment ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:27018336|REF_RGD_ID:11073616 11771999 SERPINE1 serpin family E member 1 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:69014 D RGD:9068941 20200609 RGD PMID:24999729|REF_RGD_ID:13208508 11771999 SERPINE1 serpin family E member 1 gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:oral mucosa (rat) PMID:15878520|REF_RGD_ID:8547730 11771999 SERPINE1 serpin family E member 1 gene DOID:0060181 ischemic colitis susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs1799768 (human) PMID:25656775|REF_RGD_ID:13208543 11771999 SERPINE1 serpin family E member 1 gene DOID:0060496 respiratory allergy ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24211530 11771999 SERPINE1 serpin family E member 1 gene DOID:0060903 thrombosis ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12677255|PMID:22352330 11771999 SERPINE1 serpin family E member 1 gene DOID:0060903 thrombosis ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;protein:increased expression:plasma (human) PMID:7495343|REF_RGD_ID:8547802 11771999 SERPINE1 serpin family E member 1 gene DOID:0060903 thrombosis no_association ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;DNA:deletion:promoter:g.-676_-674delG (human) PMID:12632020|REF_RGD_ID:7394765 11771999 SERPINE1 serpin family E member 1 gene DOID:0060903 thrombosis susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Lupus Nephritis;;DNA:insertion/deletion: : PMID:17469143|REF_RGD_ID:7175506 11771999 SERPINE1 serpin family E member 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:blood: PMID:25091195|REF_RGD_ID:13208545 11771999 SERPINE1 serpin family E member 1 gene DOID:0080599 Coronavirus infectious disease ISO RGD:11055 D RGD:9068941 20220825 MouseDO 11771999 SERPINE1 serpin family E member 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:3249 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:17446839|REF_RGD_ID:8547894 11771999 SERPINE1 serpin family E member 1 gene DOID:0080998 acute necrotizing pancreatitis disease_progression ISO RGD:69014 D RGD:9068941 20200609 RGD PMID:15257107|REF_RGD_ID:13208542 11771999 SERPINE1 serpin family E member 1 gene DOID:0081120 Graves ophthalmopathy severity ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Graves Disease;protein:increased expression:tears (human) PMID:22385289|REF_RGD_ID:8547756 11771999 SERPINE1 serpin family E member 1 gene DOID:0081267 graft-versus-host disease Treatment ISO RGD:11055 D RGD:9068941 20200609 RGD PMID:26414805|REF_RGD_ID:11343779 11771999 SERPINE1 serpin family E member 1 gene DOID:0111046 platelet-type bleeding disorder 10 severity ISO RGD:69014 D RGD:9068941 20200609 RGD PMID:18820218|REF_RGD_ID:13208509 11771999 SERPINE1 serpin family E member 1 gene DOID:10247 pleurisy susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Familial Mediterranean Fever;DNA: DNA:polymorphism:promoter:rs1799768 (human): PMID:23052617|REF_RGD_ID:13207414 11771999 SERPINE1 serpin family E member 1 gene DOID:10591 pre-eclampsia ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18679377 11771999 SERPINE1 serpin family E member 1 gene DOID:10591 pre-eclampsia ISO RGD:69014 D RGD:9068941 20200609 RGD mRNA:increased expression:blood: PMID:16952198|REF_RGD_ID:2292128 11771999 SERPINE1 serpin family E member 1 gene DOID:10763 hypertension ISO RGD:3249 D RGD:9068941 20200903 RGD mRNA:increased expression:kidney (SHRSP/A3N rat) PMID:11907153|REF_RGD_ID:28912746 11771999 SERPINE1 serpin family E member 1 gene DOID:10763 hypertension ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21051829|PMID:22352330 11771999 SERPINE1 serpin family E member 1 gene DOID:10763 hypertension ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:8355419|REF_RGD_ID:8547753 11771999 SERPINE1 serpin family E member 1 gene DOID:10763 hypertension treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:16645728|REF_RGD_ID:11081003 11771999 SERPINE1 serpin family E member 1 gene DOID:11054 urinary bladder cancer ISO RGD:69014 D RGD:9068941 20200609 RGD PMID:19010488|REF_RGD_ID:4144867 11771999 SERPINE1 serpin family E member 1 gene DOID:11247 disseminated intravascular coagulation ISO RGD:3249 D RGD:9068941 20200609 RGD protein:increased expression:blood (rat) PMID:23737601|REF_RGD_ID:10449432 11771999 SERPINE1 serpin family E member 1 gene DOID:11247 disseminated intravascular coagulation treatment ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:15869603|REF_RGD_ID:11080963 11771999 SERPINE1 serpin family E member 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Pneumonia, aspiration; protein:increased expression:Bronchoalveolar Lavage Fluid PMID:16284739|REF_RGD_ID:4144039 11771999 SERPINE1 serpin family E member 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17667242|REF_RGD_ID:4144037 11771999 SERPINE1 serpin family E member 1 gene DOID:11446 sciatic neuropathy treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:25967608|REF_RGD_ID:11075075 11771999 SERPINE1 serpin family E member 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:19375763|REF_RGD_ID:13208505 11771999 SERPINE1 serpin family E member 1 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Premature Birth;protein:increased expression:blood: PMID:25140773|REF_RGD_ID:13208551 11771999 SERPINE1 serpin family E member 1 gene DOID:11695 portal vein thrombosis susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: PMID:25987440|REF_RGD_ID:14696749 11771999 SERPINE1 serpin family E member 1 gene DOID:11713 diabetic angiopathy susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:deletion, haplotype:promoter:g.-676_-674delG (human) PMID:9844142|REF_RGD_ID:8547700 11771999 SERPINE1 serpin family E member 1 gene DOID:1184 nephrotic syndrome ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17513194 11771999 SERPINE1 serpin family E member 1 gene DOID:12361 Graves' disease ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:tears (human) PMID:22385289|REF_RGD_ID:8547756 11771999 SERPINE1 serpin family E member 1 gene DOID:12361 Graves' disease treatment ISO RGD:69014 D RGD:9068941 20200609 RGD PMID:11980614|REF_RGD_ID:8547709 11771999 SERPINE1 serpin family E member 1 gene DOID:12849 autistic disorder ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19360663 11771999 SERPINE1 serpin family E member 1 gene DOID:13025 retinopathy of prematurity ISO RGD:69014 D RGD:9068941 20200609 RGD human protein in a rat model PMID:14638747|REF_RGD_ID:8547810 11771999 SERPINE1 serpin family E member 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18682491 11771999 SERPINE1 serpin family E member 1 gene DOID:1312 focal segmental glomerulosclerosis treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:22303720|REF_RGD_ID:13208548 11771999 SERPINE1 serpin family E member 1 gene DOID:13207 proliferative diabetic retinopathy disease_progression ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:23304115|REF_RGD_ID:8699497 11771999 SERPINE1 serpin family E member 1 gene DOID:13207 proliferative diabetic retinopathy susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:deletion:promoter:g.-676_-674delG (human) PMID:16416371|REF_RGD_ID:8699494 11771999 SERPINE1 serpin family E member 1 gene DOID:13241 Behcet's disease ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12074830 11771999 SERPINE1 serpin family E member 1 gene DOID:13241 Behcet's disease ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:18341631|REF_RGD_ID:8547693 11771999 SERPINE1 serpin family E member 1 gene DOID:13580 cholestasis ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224055 11771999 SERPINE1 serpin family E member 1 gene DOID:13809 familial combined hyperlipidemia ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:18417194|REF_RGD_ID:13207412 11771999 SERPINE1 serpin family E member 1 gene DOID:13810 familial hypercholesterolemia ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19004443|REF_RGD_ID:13207334 11771999 SERPINE1 serpin family E member 1 gene DOID:1389 polyneuropathy ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human) PMID:9201602|REF_RGD_ID:8547710 11771999 SERPINE1 serpin family E member 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:69014 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta: PMID:23814118|REF_RGD_ID:13208504 11771999 SERPINE1 serpin family E member 1 gene DOID:14018 alcoholic liver cirrhosis susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: PMID:25987440|REF_RGD_ID:14696749 11771999 SERPINE1 serpin family E member 1 gene DOID:14115 toxic shock syndrome susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Pneumonia; DNA:polymorphism:promoter:rs1799768 (human) PMID:20429897|REF_RGD_ID:4144828 11771999 SERPINE1 serpin family E member 1 gene DOID:1577 limited scleroderma ISO RGD:11055 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:skin: PMID:15730388|REF_RGD_ID:13208597 11771999 SERPINE1 serpin family E member 1 gene DOID:1612 breast cancer ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:breast, tumor (human) PMID:15448007|REF_RGD_ID:8547748 11771999 SERPINE1 serpin family E member 1 gene DOID:1686 glaucoma ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor (human) PMID:15710819|REF_RGD_ID:8547695 11771999 SERPINE1 serpin family E member 1 gene DOID:1727 retinal vein occlusion susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:deletion:promoter:g.-676_-674delG (human) PMID:16244763|REF_RGD_ID:8547742 11771999 SERPINE1 serpin family E member 1 gene DOID:1727 retinal vein occlusion susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:15213845|REF_RGD_ID:8547805 11771999 SERPINE1 serpin family E member 1 gene DOID:1936 atherosclerosis ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12677255 11771999 SERPINE1 serpin family E member 1 gene DOID:2213 hemorrhagic disease ISO RGD:69014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 11771999 SERPINE1 serpin family E member 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:26851971|REF_RGD_ID:11073692 11771999 SERPINE1 serpin family E member 1 gene DOID:2316 brain ischemia treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:27108052|REF_RGD_ID:11073613 11771999 SERPINE1 serpin family E member 1 gene DOID:2378 relapsing-remitting multiple sclerosis disease_progression ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:10739162|REF_RGD_ID:13208510 11771999 SERPINE1 serpin family E member 1 gene DOID:2841 asthma ISO RGD:3249 D RGD:9068941 20200609 RGD protein:increased activity, increased expression:plasma, lung PMID:18594148|REF_RGD_ID:4144836 11771999 SERPINE1 serpin family E member 1 gene DOID:2841 asthma no_association ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs1799768 (human) PMID:19604112|REF_RGD_ID:4144833 11771999 SERPINE1 serpin family E member 1 gene DOID:2841 asthma severity ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19703828|REF_RGD_ID:4144831 11771999 SERPINE1 serpin family E member 1 gene DOID:2841 asthma susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs1799768 (human) PMID:19063817|REF_RGD_ID:4144832 11771999 SERPINE1 serpin family E member 1 gene DOID:2921 glomerulonephritis treatment ISO RGD:69014 D RGD:9068941 20200609 RGD PMID:12897205|REF_RGD_ID:13208810 11771999 SERPINE1 serpin family E member 1 gene DOID:2987 familial Mediterranean fever susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs1799768 (human) PMID:22736074|REF_RGD_ID:13207415 11771999 SERPINE1 serpin family E member 1 gene DOID:3070 high grade glioma ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:14977830|REF_RGD_ID:13208546 11771999 SERPINE1 serpin family E member 1 gene DOID:3082 interstitial lung disease susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD Cryptogenic Organizing Pneumonia; DNA:polymorphism:promoter:rs1799768 (human) PMID:12765340|REF_RGD_ID:4144846 11771999 SERPINE1 serpin family E member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:3249 D RGD:9068941 20200609 RGD protein:increased expression:bronchus PMID:17651644|REF_RGD_ID:6484146 11771999 SERPINE1 serpin family E member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69014 D RGD:9068941 20200609 RGD PMID:11929177|REF_RGD_ID:4144041 11771999 SERPINE1 serpin family E member 1 gene DOID:3192 neurilemmoma ISO RGD:69014 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:schwann cell PMID:14963743|REF_RGD_ID:13208544 11771999 SERPINE1 serpin family E member 1 gene DOID:3355 fibrosarcoma severity ISO RGD:11055 D RGD:9068941 20200609 RGD PMID:11059781|REF_RGD_ID:8547752 11771999 SERPINE1 serpin family E member 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:insertion:promoter: (human) PMID:9484978|REF_RGD_ID:1580190 11771999 SERPINE1 serpin family E member 1 gene DOID:3490 Noonan syndrome ISO RGD:69014 D RGD:9068941 20200609 RGD protein:decreased activity:blood: PMID:20686427|REF_RGD_ID:13207331 11771999 SERPINE1 serpin family E member 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:14512838|REF_RGD_ID:1580876 11771999 SERPINE1 serpin family E member 1 gene DOID:3526 cerebral infarction treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:25702149|REF_RGD_ID:11075081 11771999 SERPINE1 serpin family E member 1 gene DOID:3627 aortic aneurysm treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:9697825|REF_RGD_ID:8547863 11771999 SERPINE1 serpin family E member 1 gene DOID:3770 pulmonary fibrosis ISO RGD:3249 D RGD:9068941 20200609 RGD protein:increased activity:plasma PMID:16224526|REF_RGD_ID:4144842 11771999 SERPINE1 serpin family E member 1 gene DOID:3770 pulmonary fibrosis ISO RGD:69014 D RGD:9068941 20200609 RGD Idiopathic Pulmonary Fibrosis PMID:20061390|REF_RGD_ID:4143513 11771999 SERPINE1 serpin family E member 1 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:22659625|REF_RGD_ID:8547927 11771999 SERPINE1 serpin family E member 1 gene DOID:3891 placental insufficiency ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:26903689|REF_RGD_ID:11557202 11771999 SERPINE1 serpin family E member 1 gene DOID:409 liver disease ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29684222 11771999 SERPINE1 serpin family E member 1 gene DOID:418 systemic scleroderma ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:dermis,microvessel: PMID:26414805|REF_RGD_ID:11343779 11771999 SERPINE1 serpin family E member 1 gene DOID:4448 macular degeneration ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:17675241|REF_RGD_ID:8547755 11771999 SERPINE1 serpin family E member 1 gene DOID:4481 allergic rhinitis ISO RGD:11055 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal mucosa (mouse) PMID:21339035|REF_RGD_ID:8547809 11771999 SERPINE1 serpin family E member 1 gene DOID:4483 rhinitis susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs1799768 (human) PMID:19063817|REF_RGD_ID:4144832 11771999 SERPINE1 serpin family E member 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11771999 SERPINE1 serpin family E member 1 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: PMID:25987440|REF_RGD_ID:14696749 11771999 SERPINE1 serpin family E member 1 gene DOID:5199 ureteral obstruction ISO RGD:3249 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:11832778|REF_RGD_ID:8547912 11771999 SERPINE1 serpin family E member 1 gene DOID:5199 ureteral obstruction ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 11771999 SERPINE1 serpin family E member 1 gene DOID:5199 ureteral obstruction treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:12365557|REF_RGD_ID:8547941 11771999 SERPINE1 serpin family E member 1 gene DOID:552 pneumonia ISO RGD:69014 D RGD:9068941 20200609 RGD Pneumonia, Ventilator-Associated; protein:increased expression:Bronchoalveolar Lavage Fluid PMID:20473240|REF_RGD_ID:4143511 11771999 SERPINE1 serpin family E member 1 gene DOID:552 pneumonia disease_progression ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: PMID:19387177|REF_RGD_ID:4143525 11771999 SERPINE1 serpin family E member 1 gene DOID:5520 head and neck squamous cell carcinoma severity ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:oral mucosa (human) PMID:15878520|REF_RGD_ID:8547730 11771999 SERPINE1 serpin family E member 1 gene DOID:5844 myocardial infarction ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:16053971|REF_RGD_ID:8547882 11771999 SERPINE1 serpin family E member 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:deletion:promoter:g.-676_-674delG (human) PMID:12477941|REF_RGD_ID:1626626 11771999 SERPINE1 serpin family E member 1 gene DOID:5845 anterolateral myocardial infarction ISO RGD:11055 D RGD:9068941 20200609 RGD protein:decreased expression, decreased activity:heart: PMID:12615902|REF_RGD_ID:13208541 11771999 SERPINE1 serpin family E member 1 gene DOID:5845 anterolateral myocardial infarction disease_progression ISO RGD:11055 D RGD:9068941 20200609 RGD PMID:12615902|REF_RGD_ID:13208541 11771999 SERPINE1 serpin family E member 1 gene DOID:6000 congestive heart failure ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 11771999 SERPINE1 serpin family E member 1 gene DOID:6039 uveal melanoma treatment ISO RGD:69014 D RGD:9068941 20200609 RGD human gene in mouse model PMID:9326241|REF_RGD_ID:8547806 11771999 SERPINE1 serpin family E member 1 gene DOID:630 genetic disease ISO RGD:69014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11771999 SERPINE1 serpin family E member 1 gene DOID:6432 pulmonary hypertension ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:3'utr PMID:20300292|REF_RGD_ID:4143527 11771999 SERPINE1 serpin family E member 1 gene DOID:6432 pulmonary hypertension ISO RGD:69014 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung PMID:18337154|REF_RGD_ID:4143529 11771999 SERPINE1 serpin family E member 1 gene DOID:6432 pulmonary hypertension treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:27115515|REF_RGD_ID:11073610 11771999 SERPINE1 serpin family E member 1 gene DOID:74 hematopoietic system disease treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:20539915|REF_RGD_ID:11080965 11771999 SERPINE1 serpin family E member 1 gene DOID:767 muscular atrophy ISO RGD:3249 D RGD:9068941 20200609 RGD mRNA:increased expression:muscle PMID:19574431|REF_RGD_ID:4144861 11771999 SERPINE1 serpin family E member 1 gene DOID:7693 abdominal aortic aneurysm ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:20554458|REF_RGD_ID:4144856 11771999 SERPINE1 serpin family E member 1 gene DOID:783 end stage renal disease ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 11771999 SERPINE1 serpin family E member 1 gene DOID:783 end stage renal disease treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:26903149|REF_RGD_ID:11073683 11771999 SERPINE1 serpin family E member 1 gene DOID:7998 hyperthyroidism ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:14512089|REF_RGD_ID:8547758 11771999 SERPINE1 serpin family E member 1 gene DOID:8432 polycythemia ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Anoxia;mRNA:increased expression:heart right ventricle, heart left ventricle (rat) PMID:9405184|REF_RGD_ID:11080746 11771999 SERPINE1 serpin family E member 1 gene DOID:850 lung disease ISO RGD:69014 D RGD:9068941 20200609 RGD Acute Lung Injury; protein:increased expression:plasma PMID:19855955|REF_RGD_ID:4143514 11771999 SERPINE1 serpin family E member 1 gene DOID:850 lung disease ISO RGD:69014 D RGD:9068941 20200609 RGD Ventilator-Induced Lung Injury; mRNA, protein:increased expression, increased activity:Bronchoalveolar Lavage Fluid, plasma PMID:20110652|REF_RGD_ID:4143512 11771999 SERPINE1 serpin family E member 1 gene DOID:850 lung disease severity ISO RGD:69014 D RGD:9068941 20200609 RGD acute lung injury; associated with Pulmonary Edema; protein:increased expression:lung, plasma PMID:12730079|REF_RGD_ID:4144040 11771999 SERPINE1 serpin family E member 1 gene DOID:863 nervous system disease ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 11771999 SERPINE1 serpin family E member 1 gene DOID:874 bacterial pneumonia severity ISO RGD:11055 D RGD:9068941 20200609 RGD PMID:17032919|REF_RGD_ID:4144840 11771999 SERPINE1 serpin family E member 1 gene DOID:8947 diabetic retinopathy ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human) PMID:9201602|REF_RGD_ID:8547710 11771999 SERPINE1 serpin family E member 1 gene DOID:8947 diabetic retinopathy no_association ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:deletion:promoter:g.-676_-674delG (human) PMID:12660488|REF_RGD_ID:8547699 11771999 SERPINE1 serpin family E member 1 gene DOID:8947 diabetic retinopathy no_association ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;repeat, snp:intron, 3' utr:g.7844(CA)1-6, ? (human) PMID:7974340|REF_RGD_ID:8547740 11771999 SERPINE1 serpin family E member 1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:deletion:promoter:g.-676_-674delG (human) PMID:23281898|REF_RGD_ID:8547697 11771999 SERPINE1 serpin family E member 1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:snp, deletion:promoter:g.-844G>A, g.-676_-674delG (human) PMID:19419896|REF_RGD_ID:8547741 11771999 SERPINE1 serpin family E member 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11771999 SERPINE1 serpin family E member 1 gene DOID:9000367 Multiple Trauma ISO RGD:3249 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:26632604|REF_RGD_ID:11073720 11771999 SERPINE1 serpin family E member 1 gene DOID:9000613 Hyaline Membrane Disease ISO RGD:11055 D RGD:9068941 20200609 RGD PMID:8981909|REF_RGD_ID:4144850 11771999 SERPINE1 serpin family E member 1 gene DOID:9000656 Penetrating Wounds ISO RGD:3249 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal skin (rat) PMID:25794881|REF_RGD_ID:11075080 11771999 SERPINE1 serpin family E member 1 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Pneumonia, Pneumococcal;protein:increased expression:bronchoalveolar lavage fluid (rat) PMID:18768578|REF_RGD_ID:11081010 11771999 SERPINE1 serpin family E member 1 gene DOID:9000972 Fever susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Familial Mediterranean Fever;DNA: DNA:polymorphism:promoter:rs1799768 (human): PMID:23052617|REF_RGD_ID:13207414 11771999 SERPINE1 serpin family E member 1 gene DOID:9001542 Albuminuria ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human) PMID:9201602|REF_RGD_ID:8547710 11771999 SERPINE1 serpin family E member 1 gene DOID:9001642 Intestinal Polyps treatment ISO RGD:11055 D RGD:9068941 20200609 RGD PMID:18258607|REF_RGD_ID:13208598 11771999 SERPINE1 serpin family E member 1 gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:16221712|REF_RGD_ID:13208600 11771999 SERPINE1 serpin family E member 1 gene DOID:9002055 Chronic Allograft Nephropathy treatment ISO RGD:69014 D RGD:9068941 20200609 RGD PMID:18192922|REF_RGD_ID:13208601 11771999 SERPINE1 serpin family E member 1 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:3249 D RGD:9068941 20200609 RGD protein:increased activity:plasma (rat) PMID:12353078|REF_RGD_ID:8547901 11771999 SERPINE1 serpin family E member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:renal glomerulus, mesangial cell (rat) PMID:15322501|REF_RGD_ID:1580123 11771999 SERPINE1 serpin family E member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18682491 11771999 SERPINE1 serpin family E member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69014 D RGD:9068941 20200609 RGD associate with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human) PMID:10809802|REF_RGD_ID:8547711 11771999 SERPINE1 serpin family E member 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:26712211|REF_RGD_ID:11073694 11771999 SERPINE1 serpin family E member 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Pre-Eclampsia;protein:increased expression:plasma,placenta: PMID:8018914|REF_RGD_ID:13208595 11771999 SERPINE1 serpin family E member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16172807 11771999 SERPINE1 serpin family E member 1 gene DOID:9002488 Peritoneal Fibrosis ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:peritoneal fluid: PMID:25530106|REF_RGD_ID:13208550 11771999 SERPINE1 serpin family E member 1 gene DOID:9002514 Neointima ISO RGD:69014 D RGD:9068941 20200609 RGD human protein in rat model PMID:19574558|REF_RGD_ID:8547913 11771999 SERPINE1 serpin family E member 1 gene DOID:9002514 Neointima treatment ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:18091579|REF_RGD_ID:8547879 11771999 SERPINE1 serpin family E member 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:11055 D RGD:9068941 20200609 RGD mRNA,protein:increased expression,increased activity:spinal cord, astrocyte: PMID:11733372|REF_RGD_ID:13208549 11771999 SERPINE1 serpin family E member 1 gene DOID:9002906 Multiple Organ Failure treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:16977483|REF_RGD_ID:11081009 11771999 SERPINE1 serpin family E member 1 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:11055 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina (mouse) PMID:19443721|REF_RGD_ID:8547749 11771999 SERPINE1 serpin family E member 1 gene DOID:9002909 Oxygen-Induced Retinopathy severity ISO RGD:11055 D RGD:9068941 20200609 RGD PMID:19443721|REF_RGD_ID:8547749 11771999 SERPINE1 serpin family E member 1 gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:11133880|REF_RGD_ID:13208592 11771999 SERPINE1 serpin family E member 1 gene DOID:9003139 Cardiac Fibrosis ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA, protein:increased expression:heart left ventricle (rat) PMID:11961044|REF_RGD_ID:8547914 11771999 SERPINE1 serpin family E member 1 gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X PMID:15604340|REF_RGD_ID:8547923 11771999 SERPINE1 serpin family E member 1 gene DOID:9003204 Neovascularization, Pathologic ISO RGD:69014 D RGD:9068941 20200609 RGD associated with carcinoma, non-small-cell lung; protein:increased expression:lung PMID:17207889|REF_RGD_ID:4144038 11771999 SERPINE1 serpin family E member 1 gene DOID:9003248 Central Serous Chorioretinopathy ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:10218712|REF_RGD_ID:8547738 11771999 SERPINE1 serpin family E member 1 gene DOID:9003248 Central Serous Chorioretinopathy ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:24446892|REF_RGD_ID:8547804 11771999 SERPINE1 serpin family E member 1 gene DOID:9003291 Aggressive Fibromatosis susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) PMID:17160433|REF_RGD_ID:13208596 11771999 SERPINE1 serpin family E member 1 gene DOID:9003379 Radiation Nephropathy treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:8995730|REF_RGD_ID:12880012 11771999 SERPINE1 serpin family E member 1 gene DOID:9003505 Venous Thromboembolism susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:deletion:promoter:g.-676_-674delG (human) PMID:17549286|REF_RGD_ID:8547715 11771999 SERPINE1 serpin family E member 1 gene DOID:9003646 Arterial Thrombosis ISO RGD:3249 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:26857113|REF_RGD_ID:11073687 11771999 SERPINE1 serpin family E member 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:69014 D RGD:9068941 20200609 RGD PMID:19587273|REF_RGD_ID:2316117 11771999 SERPINE1 serpin family E member 1 gene DOID:9003758 Banti's Syndrome susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: PMID:18685811|REF_RGD_ID:10755472 11771999 SERPINE1 serpin family E member 1 gene DOID:9003817 Sudden Hearing Loss susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:deletion, haplotype:promoter:g.-676_-674delG (human) PMID:22672326|REF_RGD_ID:8547731 11771999 SERPINE1 serpin family E member 1 gene DOID:9003841 Acquired Protein C Deficiency ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Sepsis;protein:increased activity:lung (rat) PMID:18182560|REF_RGD_ID:11080962 11771999 SERPINE1 serpin family E member 1 gene DOID:9003871 Venous Thrombosis ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:9535178|REF_RGD_ID:8547875 11771999 SERPINE1 serpin family E member 1 gene DOID:9003871 Venous Thrombosis ISO RGD:3249 D RGD:9068941 20200609 RGD mRNA:increased expression:femoral vein (rat) PMID:26535698|REF_RGD_ID:11060966 11771999 SERPINE1 serpin family E member 1 gene DOID:9003871 Venous Thrombosis ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:deletion:promoter:g.-676_-674delG (human) PMID:14653439|REF_RGD_ID:1580132 11771999 SERPINE1 serpin family E member 1 gene DOID:9004484 Sepsis ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Pneumonia; protein:increased expression:plasma PMID:19753144|REF_RGD_ID:4144830 11771999 SERPINE1 serpin family E member 1 gene DOID:9004484 Sepsis treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:12000738|REF_RGD_ID:1598921 11771999 SERPINE1 serpin family E member 1 gene DOID:9004610 Acute Lung Injury ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Shock, Hemorrhagic;mRNA:increased expression:lung (rat) PMID:10745022|REF_RGD_ID:11080967 11771999 SERPINE1 serpin family E member 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:25934465|REF_RGD_ID:11075078 11771999 SERPINE1 serpin family E member 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Sepsis PMID:18182560|REF_RGD_ID:11080962 11771999 SERPINE1 serpin family E member 1 gene DOID:9004702 Pregnancy Complications ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs1799768 (human) PMID:10909993|REF_RGD_ID:13208506 11771999 SERPINE1 serpin family E member 1 gene DOID:9004771 Vascular Remodeling treatment ISO RGD:11055 D RGD:9068941 20200609 RGD PMID:26856544|REF_RGD_ID:11073690 11771999 SERPINE1 serpin family E member 1 gene DOID:9004874 Dermal Fibrosis treatment ISO RGD:11055 D RGD:9068941 20200609 RGD PMID:26414805|REF_RGD_ID:11343779 11771999 SERPINE1 serpin family E member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:11055 D RGD:9068941 20200609 RGD protein:increased expression:heart (mouse) PMID:20630999|REF_RGD_ID:8547862 11771999 SERPINE1 serpin family E member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21757225 11771999 SERPINE1 serpin family E member 1 gene DOID:9005930 Endotoxemia ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:21396682|REF_RGD_ID:5147765 11771999 SERPINE1 serpin family E member 1 gene DOID:9005930 Endotoxemia treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:25396762|REF_RGD_ID:10449434 11771999 SERPINE1 serpin family E member 1 gene DOID:9005941 Rhinosinusitis ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa (human) PMID:21711960|REF_RGD_ID:6483796 11771999 SERPINE1 serpin family E member 1 gene DOID:9006014 Peritoneal Adhesions ISO RGD:3249 D RGD:9068941 20200609 RGD protein:increased expression:peritoneal fluid (rat) PMID:26419644|REF_RGD_ID:11073723 11771999 SERPINE1 serpin family E member 1 gene DOID:9006014 Peritoneal Adhesions treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:26790972|REF_RGD_ID:11073682 11771999 SERPINE1 serpin family E member 1 gene DOID:9006151 Choroidal Neovascularization, Experimental ISO RGD:11055 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (mouse) PMID:12766088|REF_RGD_ID:8547735 11771999 SERPINE1 serpin family E member 1 gene DOID:9006151 Choroidal Neovascularization, Experimental ISO RGD:69014 D RGD:9068941 20200609 RGD human gene in mouse model PMID:11292663|REF_RGD_ID:8547737 11771999 SERPINE1 serpin family E member 1 gene DOID:9006151 Choroidal Neovascularization, Experimental severity ISO RGD:11055 D RGD:9068941 20200609 RGD PMID:12766088|REF_RGD_ID:8547735 11771999 SERPINE1 serpin family E member 1 gene DOID:9006151 Choroidal Neovascularization, Experimental treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:26610445|REF_RGD_ID:11073722 11771999 SERPINE1 serpin family E member 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:3249 D RGD:9068941 20200609 RGD mRNA:increased expression:carotid artery (rat) PMID:25617690|REF_RGD_ID:11075082 11771999 SERPINE1 serpin family E member 1 gene DOID:9006205 Animal Disease Models ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21051829 11771999 SERPINE1 serpin family E member 1 gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:26084260|REF_RGD_ID:11073736 11771999 SERPINE1 serpin family E member 1 gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:11606484|REF_RGD_ID:11080966 11771999 SERPINE1 serpin family E member 1 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:3249 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:25561792|REF_RGD_ID:11075083 11771999 SERPINE1 serpin family E member 1 gene DOID:9007096 Stroke ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:11450024|REF_RGD_ID:4144847 11771999 SERPINE1 serpin family E member 1 gene DOID:9007188 Liver Neoplasms ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21159647 11771999 SERPINE1 serpin family E member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:69014 D RGD:9068941 20200609 RGD associated with precursor lymphoblastic lymphoma/leukemia;DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) PMID:23183238|REF_RGD_ID:14696750 11771999 SERPINE1 serpin family E member 1 gene DOID:9007692 Insulin Resistance ISO RGD:3249 D RGD:9068941 20200609 RGD mRNA:increased expression:white adipose tissue (rat) PMID:19776253|REF_RGD_ID:8547949 11771999 SERPINE1 serpin family E member 1 gene DOID:9007692 Insulin Resistance treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:26188590|REF_RGD_ID:11073726 11771999 SERPINE1 serpin family E member 1 gene DOID:9007752 Chronic Relapsing Experimental Autoimmune Encephalomyelitis ISO RGD:11055 D RGD:9068941 20200609 RGD PMID:17983428|REF_RGD_ID:13208507 11771999 SERPINE1 serpin family E member 1 gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:3249 D RGD:9068941 20200609 RGD protein:increased activity:plasma (rat) PMID:12717359|REF_RGD_ID:11081012 11771999 SERPINE1 serpin family E member 1 gene DOID:9007783 Vascular Depression treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:26286041|REF_RGD_ID:11073724 11771999 SERPINE1 serpin family E member 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:26958805|REF_RGD_ID:11073621 11771999 SERPINE1 serpin family E member 1 gene DOID:9008217 Hemorrhage ISO RGD:69014 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hemorrhage PMID:25741868 11771999 SERPINE1 serpin family E member 1 gene DOID:9008217 Hemorrhage treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:9263399|REF_RGD_ID:11080960 11771999 SERPINE1 serpin family E member 1 gene DOID:9008533 Plasminogen Activator Inhibitor-1 Deficiency ISO RGD:69014 D RGD:7240710 20180509 OMIM 11771999 SERPINE1 serpin family E member 1 gene DOID:9008533 Plasminogen Activator Inhibitor-1 Deficiency ISO RGD:69014 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY PMID:12856128|PMID:15650551|PMID:17656673|PMID:20549826|PMID:21486382|PMID:21681106|PMID:25741868|PMID:28492532|PMID:28771291 11771999 SERPINE1 serpin family E member 1 gene DOID:9008652 Postoperative Atrial Fibrillation ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:17846288|REF_RGD_ID:8547720 11771999 SERPINE1 serpin family E member 1 gene DOID:9008975 Gastrointestinal Hemorrhage ISO RGD:69014 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Gastrointestinal hemorrhage PMID:25741868 11771999 SERPINE1 serpin family E member 1 gene DOID:9009023 Aortic Remodeling treatment ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Hypertension PMID:26693246|REF_RGD_ID:11073698 11771999 SERPINE1 serpin family E member 1 gene DOID:9120 amyloidosis susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Familial Mediterranean Fever;DNA: DNA:polymorphism:promoter:rs1799768 (human): PMID:23052617|REF_RGD_ID:13207414 11771999 SERPINE1 serpin family E member 1 gene DOID:9351 diabetes mellitus treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:10910004|REF_RGD_ID:2312393 11771999 SERPINE1 serpin family E member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3249 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:19706694|REF_RGD_ID:2316116 11771999 SERPINE1 serpin family E member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69014 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:8236167|REF_RGD_ID:8547723 11771999 SERPINE1 serpin family E member 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism: PMID:16855181|REF_RGD_ID:1624959 11771999 SERPINE1 serpin family E member 1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:14614217|REF_RGD_ID:2312394 11771999 SERPINE1 serpin family E member 1 gene DOID:9452 fatty liver disease ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18641190|PMID:29684222 11771999 SERPINE1 serpin family E member 1 gene DOID:9970 obesity ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23819014 11772009 MC3R melanocortin 3 receptor gene DOID:630 genetic disease ISO RGD:1345990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772009 MC3R melanocortin 3 receptor gene DOID:9004713 Acute-Phase Reaction ISO RGD:3056 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:22183812|REF_RGD_ID:6484138 11772009 MC3R melanocortin 3 receptor gene DOID:9970 obesity ISO RGD:1345990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Body mass index quantitative trait locus 9 | ClinVar Annotator: match by term: Obesity PMID:11889220|PMID:15276649|PMID:15292330|PMID:18231126|PMID:19091795|PMID:21047972|PMID:25741868|PMID:28492532 11772009 MC3R melanocortin 3 receptor gene DOID:9970 obesity susceptibility ISO RGD:1345990 D RGD:7240710 20190502 OMIM 11772021 SYDE1 synapse defective Rho GTPase homolog 1 gene DOID:630 genetic disease ISO RGD:1602201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772038 FCER1A Fc epsilon receptor Ia gene DOID:0060500 drug allergy ISO RGD:736318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17125826|PMID:20485159 11772038 FCER1A Fc epsilon receptor Ia gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:736318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11772038 FCER1A Fc epsilon receptor Ia gene DOID:1540 parathyroid carcinoma ISO RGD:736318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11772038 FCER1A Fc epsilon receptor Ia gene DOID:1555 urticaria ISO RGD:736318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481|PMID:20485159 11772038 FCER1A Fc epsilon receptor Ia gene DOID:2841 asthma ISO RGD:736318 D RGD:9068941 20200609 RGD Asthma symptoms persistent despite steroids PMID:21388666|REF_RGD_ID:5128711 11772038 FCER1A Fc epsilon receptor Ia gene DOID:2841 asthma severity ISO RGD:736318 D RGD:9068941 20200609 RGD Fatal asthma subjects PMID:20937062|REF_RGD_ID:5128717 11772038 FCER1A Fc epsilon receptor Ia gene DOID:4483 rhinitis ISO RGD:736318 D RGD:9068941 20200609 RGD PMID:20650300|REF_RGD_ID:5128714 11772038 FCER1A Fc epsilon receptor Ia gene DOID:630 genetic disease ISO RGD:736318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772038 FCER1A Fc epsilon receptor Ia gene DOID:9005236 Drug Eruptions ISO RGD:736318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 11772038 FCER1A Fc epsilon receptor Ia gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11772049 ADGRE5 adhesion G protein-coupled receptor E5 gene DOID:1793 pancreatic cancer ISO RGD:1313717 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:12428789|REF_RGD_ID:2317573 11772049 ADGRE5 adhesion G protein-coupled receptor E5 gene DOID:630 genetic disease ISO RGD:1313717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772049 ADGRE5 adhesion G protein-coupled receptor E5 gene DOID:850 lung disease ISO RGD:1313717 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21602193 11772069 CARD6 caspase recruitment domain family member 6 gene DOID:0080600 COVID-19 ISO RGD:1314062 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11772069 CARD6 caspase recruitment domain family member 6 gene DOID:630 genetic disease ISO RGD:1314062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772069 CARD6 caspase recruitment domain family member 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11772076 INPP5K inositol polyphosphate-5-phosphatase K gene DOID:0080197 congenital muscular dystrophy with cataracts and intellectual disability ISO RGD:1604357 D RGD:7240710 20190315 OMIM 11772076 INPP5K inositol polyphosphate-5-phosphatase K gene DOID:0080197 congenital muscular dystrophy with cataracts and intellectual disability ISO RGD:1604357 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy with cataracts and intellectual disability PMID:25741868|PMID:28190456|PMID:28190459|PMID:28492532|PMID:33792664 11772076 INPP5K inositol polyphosphate-5-phosphatase K gene DOID:630 genetic disease ISO RGD:1604357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26940976|PMID:28190459 11772117 LOC100978102 coiled-coil domain-containing glutamate-rich protein 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1319808 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11772117 LOC100978102 coiled-coil domain-containing glutamate-rich protein 2 gene DOID:630 genetic disease ISO RGD:1319808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11772117 LOC100978102 coiled-coil domain-containing glutamate-rich protein 2 gene DOID:9005811 HUPRA Syndrome ISO RGD:1319808 D RGD:7240710 20180130 OMIM 11772117 LOC100978102 coiled-coil domain-containing glutamate-rich protein 2 gene DOID:9005811 HUPRA Syndrome ISO RGD:1319808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HUPRA SYNDROME | ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME PMID:17576681|PMID:21255763|PMID:24034276|PMID:25741868|PMID:27279129|PMID:28492532|PMID:31607746|PMID:33751860|PMID:9536098 11772117 LOC100978102 coiled-coil domain-containing glutamate-rich protein 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1319808 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11772147 RNFT1 ring finger protein, transmembrane 1 gene DOID:0050777 Joubert syndrome ISO RGD:1606007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11772147 RNFT1 ring finger protein, transmembrane 1 gene DOID:630 genetic disease ISO RGD:1606007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772160 SEMA7A semaphorin 7A (John Milton Hagen blood group) gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1313074 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11772160 SEMA7A semaphorin 7A (John Milton Hagen blood group) gene DOID:2717 Bloom syndrome ISO RGD:1313074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11772160 SEMA7A semaphorin 7A (John Milton Hagen blood group) gene DOID:5419 schizophrenia ISO RGD:1313074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11772160 SEMA7A semaphorin 7A (John Milton Hagen blood group) gene DOID:630 genetic disease ISO RGD:1313074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772160 SEMA7A semaphorin 7A (John Milton Hagen blood group) gene DOID:9008279 Progressive Familial Intrahepatic Cholestasis 11 ISO RGD:1313074 D RGD:7240710 20220518 OMIM 11772160 SEMA7A semaphorin 7A (John Milton Hagen blood group) gene DOID:9008279 Progressive Familial Intrahepatic Cholestasis 11 ISO RGD:1313074 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 11 PMID:34585848 11772160 SEMA7A semaphorin 7A (John Milton Hagen blood group) gene DOID:9256 colorectal cancer ISO RGD:1313074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10338089|PMID:10559219|PMID:11318841|PMID:11395395|PMID:11585851|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12364426|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:1422196|PMID:14692646|PMID:14715863|PMID:15111507|PMID:15115830|PMID:15292329|PMID:15504982|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15784703|PMID:15797964|PMID:15855351|PMID:15886397|PMID:15998776|PMID:16123337|PMID:16166157|PMID:16357843|PMID:16403845|PMID:16416420|PMID:16455067|PMID:16731837|PMID:16885549|PMID:17021801|PMID:17257281|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17490422|PMID:17491708|PMID:17652641|PMID:17673911|PMID:17728498|PMID:17823772|PMID:18250167|PMID:18414213|PMID:18556340|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19357197|PMID:19372376|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20049716|PMID:20301620|PMID:20424228|PMID:20589481|PMID:20642364|PMID:20685672|PMID:20686794|PMID:20694718|PMID:21115269|PMID:21119644|PMID:21422196|PMID:21544516|PMID:21812132|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22311976|PMID:22471336|PMID:22512215|PMID:22591706|PMID:2270156|PMID:22701567|PMID:22704848|PMID:22768671|PMID:22831748|PMID:23226049|PMID:23275527|PMID:23320570|PMID:23345197|PMID:23652837|PMID:23667671|PMID:23950723|PMID:24018988|PMID:24068186|PMID:24434300|PMID:2462236|PMID:24622368|PMID:25201519|PMID:25247988|PMID:25555642|PMID:25637631|PMID:25639667|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26509005|PMID:26545876|PMID:26958039|PMID:27033559|PMID:27118464|PMID:27188453|PMID:27681997|PMID:27691052|PMID:27908292|PMID:28123437|PMID:28347637|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28925365|PMID:29439679|PMID:29893194|PMID:30297969|PMID:30377186|PMID:30386300|PMID:30663027|PMID:30873120|PMID:31291970|PMID:31464105|PMID:32027066|PMID:32101525|PMID:32893419|PMID:32935446|PMID:33324081|PMID:34566892|PMID:34737607|PMID:7847376|PMID:8897013|PMID:8923010|PMID:9356020|PMID:9867219 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:69098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15115830|PMID:15292329|PMID:15448107|PMID:15579791|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16123337|PMID:16455067|PMID:16670688|PMID:16731837|PMID:16885549|PMID:17021801|PMID:17257281|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17823772|PMID:18414213|PMID:18758683|PMID:18767144|PMID:19065048|PMID:19139106|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22768671|PMID:24068186|PMID:24150202|PMID:25555642|PMID:25678012|PMID:25739471|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26839896|PMID:26958039|PMID:27681997|PMID:28083968|PMID:28492532|PMID:29893194|PMID:32279225|PMID:32792356|PMID:32893419|PMID:32935446|PMID:33816067|PMID:34566892|PMID:9867219 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:69098 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Permanent diabetes mellitus of infancy | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:10049691|PMID:10559219|PMID:11318841|PMID:11395395|PMID:11585851|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12213829|PMID:12364426|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:1422196|PMID:14551916|PMID:14692646|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15115830|PMID:15292329|PMID:15448106|PMID:15448107|PMID:15504982|PMID:15531505|PMID:15561897|PMID:15562009|PMID:15579791|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15784703|PMID:15797964|PMID:15807877|PMID:15838686|PMID:15855351|PMID:15886397|PMID:16123337|PMID:16205880|PMID:16268330|PMID:16357843|PMID:16403845|PMID:16416420|PMID:16455067|PMID:16609879|PMID:16636122|PMID:16670688|PMID:16731833|PMID:16731837|PMID:16885549|PMID:16885550|PMID:17021801|PMID:17065345|PMID:17257281|PMID:17296510|PMID:17316607|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17475937|PMID:17490422|PMID:17491708|PMID:17635943|PMID:17652641|PMID:17673911|PMID:17728498|PMID:17823772|PMID:17901525|PMID:18073297|PMID:18250167|PMID:18290324|PMID:18414213|PMID:18436707|PMID:18556340|PMID:18662362|PMID:18758683|PMID:18767144|PMID:19065048|PMID:19139106|PMID:19214942|PMID:19233137|PMID:19357197|PMID:19372376|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20220270|PMID:20301620|PMID:20424228|PMID:20466780|PMID:20642364|PMID:20685672|PMID:20686794|PMID:21115269|PMID:21119644|PMID:21340152|PMID:21352428|PMID:21422196|PMID:21544516|PMID:21765448|PMID:21812132|PMID:22005014|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22311976|PMID:22471336|PMID:22512215|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22749773|PMID:22768671|PMID:22831748|PMID:22958899|PMID:23226037|PMID:23226049|PMID:23275527|PMID:23320570|PMID:23345197|PMID:23652837|PMID:23950723|PMID:24018988|PMID:24068186|PMID:24150202|PMID:24421282|PMID:24622368|PMID:24686051|PMID:24698822|PMID:25201519|PMID:25247988|PMID:25308342|PMID:25555642|PMID:25637631|PMID:25741868|PMID:25871929|PMID:25972930|PMID:26388896|PMID:26448950|PMID:26467025|PMID:26740944|PMID:26839896|PMID:26958039|PMID:27118464|PMID:27173951|PMID:27181376|PMID:27681997|PMID:27691052|PMID:27908292|PMID:28083968|PMID:28123437|PMID:28262438|PMID:28270372|PMID:28352326|PMID:28442472|PMID:28480665|PMID:28492532|PMID:29361385|PMID:29893194|PMID:30286572|PMID:30377186|PMID:30663027|PMID:31218401|PMID:31291970|PMID:31464105|PMID:32027066|PMID:32279225|PMID:32418263|PMID:32792356|PMID:32893419|PMID:32935446|PMID:33046911|PMID:33324081|PMID:33409956|PMID:33816067|PMID:33853507|PMID:33987715|PMID:34566892|PMID:9831713|PMID:9867219 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0070218 familial hyperinsulinemic hypoglycemia 2 ISO RGD:69098 D RGD:7240710 20180912 OMIM 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0070218 familial hyperinsulinemic hypoglycemia 2 ISO RGD:69098 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 2 PMID:10338089|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:14551916|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15115830|PMID:15504982|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:15998776|PMID:16416420|PMID:16455067|PMID:16670688|PMID:17257281|PMID:17316607|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17673911|PMID:17823772|PMID:18250167|PMID:18290324|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19357197|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20032456|PMID:20049716|PMID:20301620|PMID:20424228|PMID:20589481|PMID:20685672|PMID:20694718|PMID:20980454|PMID:21115269|PMID:21119644|PMID:21422196|PMID:21765448|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22311976|PMID:22471336|PMID:22512215|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22958899|PMID:23226049|PMID:23275527|PMID:23345197|PMID:23700433|PMID:24434300|PMID:24698822|PMID:25247988|PMID:25555642|PMID:25637631|PMID:25639667|PMID:25741868|PMID:25871929|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26545876|PMID:26740944|PMID:27118464|PMID:27188453|PMID:27908292|PMID:28352326|PMID:28442472|PMID:28492532|PMID:28938416|PMID:29216354|PMID:29893194|PMID:30026763|PMID:30297969|PMID:30873120|PMID:31291970|PMID:31464105|PMID:32027066|PMID:32935446|PMID:33324081|PMID:33853507|PMID:34737607|PMID:35402560|PMID:7847376|PMID:8897013|PMID:8923010|PMID:9356020|PMID:9867219 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0070219 familial hyperinsulinemic hypoglycemia 1 ISO RGD:69098 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 PMID:15580558|PMID:15718250|PMID:16885549|PMID:17466004|PMID:18414213|PMID:25741868|PMID:26448950|PMID:26467025|PMID:28492532 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0080855 Parkinsonism ISO RGD:69247 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prefrontal cortex, striatum, hippocampus (rat) PMID:15857625|REF_RGD_ID:1598645 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:69098 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:14871556|PMID:15111507|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:15998776|PMID:16455067|PMID:16670688|PMID:17257281|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18414213|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:21573802|PMID:21765448|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22289434|PMID:22512215|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22958899|PMID:23275527|PMID:24401662|PMID:25555642|PMID:25741868|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26545876|PMID:26839896|PMID:27118464|PMID:28173619|PMID:28262438|PMID:28352326|PMID:28492532|PMID:28766502|PMID:29216354|PMID:29361385|PMID:29454299|PMID:29893194|PMID:31195986|PMID:32935446|PMID:33853507|PMID:34465386|PMID:34566892|PMID:35402560|PMID:9867219 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0111110 maturity-onset diabetes of the young type 13 ISO RGD:69098 D RGD:7240710 20180130 OMIM 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0111110 maturity-onset diabetes of the young type 13 ISO RGD:69098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MODY, TYPE 13 | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 13 PMID:10338089|PMID:11318841|PMID:11585851|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:14551916|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15115830|PMID:15504982|PMID:15562009|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15784703|PMID:15797964|PMID:15855351|PMID:16416420|PMID:16455067|PMID:16670688|PMID:17021801|PMID:17257281|PMID:17316607|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17490422|PMID:17673911|PMID:17823772|PMID:18250167|PMID:18290324|PMID:18414213|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:20685672|PMID:21054355|PMID:21115269|PMID:21119644|PMID:21210267|PMID:21765448|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22311976|PMID:22471336|PMID:22512215|PMID:22591706|PMID:2270156|PMID:22701567|PMID:22704848|PMID:22831748|PMID:22958899|PMID:23275527|PMID:23345197|PMID:23667671|PMID:2462236|PMID:24622368|PMID:24698822|PMID:25247988|PMID:25637631|PMID:25741868|PMID:25871929|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26509005|PMID:26740944|PMID:27033559|PMID:27118464|PMID:28347637|PMID:28352326|PMID:28492532|PMID:28587604|PMID:28925365|PMID:29216354|PMID:29893194|PMID:30297969|PMID:31291970|PMID:32101525|PMID:32893419|PMID:32935446|PMID:33324081|PMID:33853507|PMID:34737607|PMID:35402560|PMID:8897013|PMID:9867219 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0112262 leucine-sensitive hypoglycemia of infancy ISO RGD:69098 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leucine-induced hypoglycemia PMID:16885549|PMID:17466004|PMID:25741868|PMID:28492532 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:1059 intellectual disability ISO RGD:69098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:10763 hypertension ISO RGD:69247 D RGD:9068941 20200609 RGD PMID:15964031|REF_RGD_ID:1598644 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:11446 sciatic neuropathy ISO RGD:69247 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal root ganglion PMID:17108688|REF_RGD_ID:7297043 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:11716 prediabetes syndrome ISO RGD:69247 D RGD:9068941 20200609 RGD associated with Obesity;protein:decreased expression:hypothalamus PMID:18001323|REF_RGD_ID:2311538 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:11717 neonatal diabetes ISO RGD:69098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal diabetes mellitus PMID:10049691|PMID:10338089|PMID:12213829|PMID:12524280|PMID:15115830|PMID:15292329|PMID:15448106|PMID:15448107|PMID:15504982|PMID:15531505|PMID:15561897|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15838686|PMID:16123337|PMID:16205880|PMID:16268330|PMID:16416420|PMID:16609879|PMID:16636122|PMID:16670688|PMID:16731833|PMID:16731837|PMID:16885550|PMID:17021801|PMID:17065345|PMID:17296510|PMID:17327377|PMID:17446535|PMID:17475937|PMID:17490422|PMID:17491708|PMID:17635943|PMID:17673911|PMID:17901525|PMID:18414213|PMID:18436707|PMID:18662362|PMID:18767144|PMID:19065048|PMID:20220270|PMID:20301620|PMID:20466780|PMID:21352428|PMID:22471336|PMID:2270156|PMID:22701567|PMID:22749773|PMID:22768671|PMID:23667671|PMID:2462236|PMID:24622368|PMID:25308342|PMID:25555642|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26509005|PMID:26839896|PMID:26958039|PMID:27033559|PMID:27681997|PMID:28347637|PMID:28480665|PMID:28492532|PMID:28587604|PMID:28925365|PMID:32101525|PMID:32418263|PMID:32792356|PMID:32893419|PMID:33409956|PMID:33816067|PMID:33987715|PMID:34566892|PMID:8897013|PMID:9831713 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:11832 visual epilepsy ISO RGD:69247 D RGD:9068941 20200609 RGD PMID:18021373|REF_RGD_ID:2301911 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:13317 hyperinsulinemic hypoglycemia ISO RGD:69098 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia | ClinVar Annotator: match by term: Islet cell hyperplasia | ClinVar Annotator: match by term: Nesidioblastosis PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16455067|PMID:17257281|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18414213|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:25741868|PMID:26448950|PMID:26467025|PMID:28492532|PMID:29893194|PMID:32935446|PMID:9867219 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:1824 status epilepticus ISO RGD:69247 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:22050960|REF_RGD_ID:5686281 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:2018 hyperinsulinism ISO RGD:69098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:14871556|PMID:15111507|PMID:15115830|PMID:15448106|PMID:15504982|PMID:15531505|PMID:15579791|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15797964|PMID:15838686|PMID:15855351|PMID:16123337|PMID:16205880|PMID:16416420|PMID:16455067|PMID:16609879|PMID:16670688|PMID:16731837|PMID:16885549|PMID:16885550|PMID:17065345|PMID:17257281|PMID:17316607|PMID:17327377|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17475937|PMID:17490422|PMID:17491708|PMID:17635943|PMID:17823772|PMID:17901525|PMID:18414213|PMID:18596924|PMID:18662362|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20022885|PMID:20032456|PMID:20049716|PMID:20220270|PMID:20301620|PMID:20424228|PMID:20466780|PMID:20589481|PMID:20685672|PMID:20980454|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22471336|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22768671|PMID:23700433|PMID:24068186|PMID:24434300|PMID:24622368|PMID:24698822|PMID:25308342|PMID:25639667|PMID:25741868|PMID:25871929|PMID:26448950|PMID:26467025|PMID:26740944|PMID:26839896|PMID:26958039|PMID:27173951|PMID:27181376|PMID:27681997|PMID:28480665|PMID:28492532|PMID:28938416|PMID:29893194|PMID:32027066|PMID:32893419|PMID:32935446|PMID:33046911|PMID:33987715|PMID:9867219 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:3310 atopic dermatitis ISO RGD:69098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atopic eczema 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:630 genetic disease ISO RGD:69098 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15580558|PMID:15718250|PMID:18414213|PMID:18767144|PMID:21119644|PMID:22512215|PMID:22701567|PMID:23345197|PMID:24068186|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26740944|PMID:27173951|PMID:27181376|PMID:28492532|PMID:31291970|PMID:32935446|PMID:33046911 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9001250 Transient Neonatal Diabetes Mellitus, 3 ISO RGD:69098 D RGD:7240710 20180130 OMIM 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9001250 Transient Neonatal Diabetes Mellitus, 3 ISO RGD:69098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 3 PMID:10338089|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12364426|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:14551916|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15115830|PMID:15292329|PMID:15448106|PMID:15504982|PMID:15531505|PMID:15562009|PMID:15579791|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15784703|PMID:15797964|PMID:15807877|PMID:15838686|PMID:15855351|PMID:16123337|PMID:16205880|PMID:16416420|PMID:16455067|PMID:16609879|PMID:16670688|PMID:16731837|PMID:16885550|PMID:17021801|PMID:17065345|PMID:17257281|PMID:17316607|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17475937|PMID:17490422|PMID:17491708|PMID:17635943|PMID:17673911|PMID:17823772|PMID:17901525|PMID:18250167|PMID:18290324|PMID:18414213|PMID:18662362|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19372376|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20049716|PMID:20220270|PMID:20301620|PMID:20424228|PMID:20466780|PMID:20589481|PMID:20685672|PMID:21115269|PMID:21119644|PMID:21422196|PMID:21765448|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22289434|PMID:22311976|PMID:22471336|PMID:22512215|PMID:22591706|PMID:2270156|PMID:22701567|PMID:22704848|PMID:22768671|PMID:22831748|PMID:22958899|PMID:23275527|PMID:23320570|PMID:23345197|PMID:23667671|PMID:23950723|PMID:24018988|PMID:24421282|PMID:24434300|PMID:2462236|PMID:24622368|PMID:24686051|PMID:24698822|PMID:25247988|PMID:25308342|PMID:25555642|PMID:25637631|PMID:25639667|PMID:25741868|PMID:25871929|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26509005|PMID:26740944|PMID:26839896|PMID:26958039|PMID:27033559|PMID:27118464|PMID:27173951|PMID:27181376|PMID:27681997|PMID:27691052|PMID:27908292|PMID:28347637|PMID:28352326|PMID:28442472|PMID:28480665|PMID:28492532|PMID:28587604|PMID:28925365|PMID:29216354|PMID:29893194|PMID:30297969|PMID:31291970|PMID:32027066|PMID:32101525|PMID:32893419|PMID:32935446|PMID:33046911|PMID:33324081|PMID:33853507|PMID:33987715|PMID:34566892|PMID:34737607|PMID:35402560|PMID:8897013|PMID:9867219 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9002261 Permanent Neonatal Diabetes Mellitus 1 ISO RGD:69098 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus 1 PMID:15580558|PMID:15718250|PMID:25741868|PMID:26448950 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9002279 Permanent Neonatal Diabetes Mellitus 3 ISO RGD:69098 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 3 PMID:16885549|PMID:17466004|PMID:25741868|PMID:28492532 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:69099 D RGD:9068941 20200609 RGD PMID:18802029|REF_RGD_ID:7297042 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9005129 Transient Neonatal Diabetes Mellitus, 2 ISO RGD:69098 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 2 PMID:15580558|PMID:15718250|PMID:16885549|PMID:17466004|PMID:18414213|PMID:25741868|PMID:26448950|PMID:26467025|PMID:28492532 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69247 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:23785408|REF_RGD_ID:7296920 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9006009 Neonatal Hypoglycemia, Simulating Foetopathia Diabetica ISO RGD:69098 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neonatal hypoglycemia PMID:16609879|PMID:16885549|PMID:17446535|PMID:17466004|PMID:17635943|PMID:18073297|PMID:18414213|PMID:20301620|PMID:21340152|PMID:23226037|PMID:25741868|PMID:26388896|PMID:27223594|PMID:28492532|PMID:30286572 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:69247 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:21250976|REF_RGD_ID:7297045 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9006240 Permanent Neonatal Diabetes Mellitus 2 ISO RGD:69098 D RGD:7240710 20200520 OMIM 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9006240 Permanent Neonatal Diabetes Mellitus 2 ISO RGD:69098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 2 PMID:11872696|PMID:12475776|PMID:12524280|PMID:14871556|PMID:15115830|PMID:15292329|PMID:15448106|PMID:15448107|PMID:15531505|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15838686|PMID:15855351|PMID:16123337|PMID:16205880|PMID:16416420|PMID:16609879|PMID:16670688|PMID:16731837|PMID:16885550|PMID:17065345|PMID:17257281|PMID:17327377|PMID:17475937|PMID:17490422|PMID:17491708|PMID:17635943|PMID:17652641|PMID:17728498|PMID:17901525|PMID:18073297|PMID:18414213|PMID:18662362|PMID:19065048|PMID:19139106|PMID:20022885|PMID:20220270|PMID:20301620|PMID:20466780|PMID:21340152|PMID:21765448|PMID:22512215|PMID:22768671|PMID:22958899|PMID:24622368|PMID:25247988|PMID:25308342|PMID:25555642|PMID:25741868|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26839896|PMID:26958039|PMID:27681997|PMID:28352326|PMID:28480665|PMID:28492532|PMID:30286572|PMID:32027066|PMID:32792356|PMID:32893419|PMID:33324081|PMID:33816067|PMID:33853507|PMID:33987715|PMID:34566892 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:69098 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16455067|PMID:17257281|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18414213|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:25741868|PMID:26448950|PMID:26467025|PMID:28492532|PMID:29893194|PMID:32935446|PMID:9867219 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9007102 Myocardial Ischemia ISO RGD:69247 D RGD:9068941 20200609 RGD PMID:26591689|REF_RGD_ID:12790977 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9007447 Developmental Delay, Epilepsy, and Neonatal Diabetes ISO RGD:69098 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: DEND syndrome PMID:15580558|PMID:15718250|PMID:25741868|PMID:26448950 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9007692 Insulin Resistance ISO RGD:69098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9032110 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:69099 D RGD:9068941 20200609 RGD PMID:17906066|REF_RGD_ID:7297046 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9351 diabetes mellitus ISO RGD:69098 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:10338089|PMID:12524280|PMID:14715863|PMID:15115830|PMID:15292329|PMID:15504982|PMID:15562009|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15807877|PMID:16123337|PMID:16357843|PMID:16731837|PMID:17021801|PMID:17327377|PMID:17446535|PMID:17490422|PMID:18250167|PMID:18414213|PMID:18767144|PMID:20301620|PMID:20685672|PMID:21115269|PMID:21119644|PMID:22471336|PMID:2270156|PMID:22701567|PMID:22768671|PMID:23275527|PMID:23345197|PMID:23667671|PMID:24421282|PMID:2462236|PMID:24622368|PMID:24686051|PMID:25247988|PMID:25555642|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26509005|PMID:26839896|PMID:26958039|PMID:27033559|PMID:27681997|PMID:27908292|PMID:28270372|PMID:28347637|PMID:28492532|PMID:28587604|PMID:28766502|PMID:28787272|PMID:28925365|PMID:31218401|PMID:31291970|PMID:32027066|PMID:32101525|PMID:32893419|PMID:32935446|PMID:33324081|PMID:34566892|PMID:8897013 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69098 D RGD:7240710 20180130 OMIM 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69098 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:14871556|PMID:15111507|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:15998776|PMID:16455067|PMID:16670688|PMID:17257281|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18414213|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:21573802|PMID:21765448|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22289434|PMID:22512215|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22958899|PMID:23275527|PMID:24401662|PMID:25555642|PMID:25741868|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26545876|PMID:26839896|PMID:27118464|PMID:28173619|PMID:28262438|PMID:28352326|PMID:28492532|PMID:28766502|PMID:29216354|PMID:29361385|PMID:29454299|PMID:29893194|PMID:31195986|PMID:32935446|PMID:33853507|PMID:34465386|PMID:34566892|PMID:35402560|PMID:9867219 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9744 type 1 diabetes mellitus ISO RGD:69098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus PMID:12524280|PMID:15115830|PMID:15448106|PMID:15448107|PMID:15531505|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15838686|PMID:16123337|PMID:16205880|PMID:16416420|PMID:16609879|PMID:16670688|PMID:16731837|PMID:16885550|PMID:17065345|PMID:17327377|PMID:17446535|PMID:17475937|PMID:17490422|PMID:17491708|PMID:17635943|PMID:17901525|PMID:18414213|PMID:18662362|PMID:19065048|PMID:20220270|PMID:20301620|PMID:20466780|PMID:22768671|PMID:24622368|PMID:25308342|PMID:25741868|PMID:26467025|PMID:26839896|PMID:26958039|PMID:27681997|PMID:28480665|PMID:28492532|PMID:29361385|PMID:32792356|PMID:32893419|PMID:33816067|PMID:33987715 11772177 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9993 hypoglycemia ISO RGD:69098 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypoglycemia PMID:18596924|PMID:20032456|PMID:23700433|PMID:27908292|PMID:31464105 11772193 SLC13A2 solute carrier family 13 member 2 gene DOID:630 genetic disease ISO RGD:736607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772212 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:10316 pneumoconiosis ISO RGD:731607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 11772212 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:11832 visual epilepsy ISO RGD:3455 D RGD:9068941 20200609 RGD PMID:14637091|REF_RGD_ID:9589824 11772212 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:1824 status epilepticus ISO RGD:3455 D RGD:9068941 20200609 RGD PMID:10582521|REF_RGD_ID:9589822 11772212 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:3455 D RGD:9068941 20200609 RGD PMID:25113670|REF_RGD_ID:9590123 11772212 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:3328 temporal lobe epilepsy ISO RGD:3455 D RGD:9068941 20200609 RGD PMID:11292447|REF_RGD_ID:9589829 11772212 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:3525 middle cerebral artery infarction ISO RGD:3455 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:15869933|REF_RGD_ID:9590118 11772212 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:3717 gastric adenocarcinoma ISO RGD:731607 D RGD:9068941 20220304 RGD associated with metastasis; protein:increased expression:gastric mucosa (human) PMID:16338072|REF_RGD_ID:151660348 11772212 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11772212 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:630 genetic disease ISO RGD:731607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772212 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3455 D RGD:9068941 20200609 RGD PMID:12895450|REF_RGD_ID:9590113 11772212 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:3455 D RGD:9068941 20200609 RGD PMID:15016081|PMID:18065151|REF_RGD_ID:9589823|REF_RGD_ID:9590124 11772212 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:9000998 Brain Injuries ISO RGD:3455 D RGD:9068941 20200609 RGD PMID:12088737|REF_RGD_ID:727637 11772212 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:9002189 High Myopia ISO RGD:731607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11772212 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:9002598 Spastic Paraparesis ISO RGD:731607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraparesis PMID:25741868 11772212 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:3455 D RGD:9068941 20200609 RGD PMID:16041802|REF_RGD_ID:9590116 11772212 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:9003740 Nerve Injuries ISO RGD:3455 D RGD:9068941 20200609 RGD mRNA:increased expression:sciatic nerve PMID:9748513|REF_RGD_ID:9589118 11772212 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:9008114 Helicobacter Infections ISO RGD:731607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17030583 11772250 ANO2 anoctamin 2 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1352763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 11772250 ANO2 anoctamin 2 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1352763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11772250 ANO2 anoctamin 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1352763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11772279 TLR7 toll like receptor 7 gene DOID:0050777 Joubert syndrome ISO RGD:1353456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:27081566|PMID:28492532 11772279 TLR7 toll like receptor 7 gene DOID:0080162 lupus nephritis ISO RGD:1558497 D RGD:9068941 20200609 RGD PMID:19944565|REF_RGD_ID:7246905 11772279 TLR7 toll like receptor 7 gene DOID:0080600 COVID-19 severity ISO RGD:1353456 D RGD:9068941 20210625 RGD DNA:SNPs:Cds: PMID:33650967|REF_RGD_ID:127284891 11772279 TLR7 toll like receptor 7 gene DOID:0112063 X-Linked immunodeficiency 74 ISO RGD:1353456 D RGD:7240710 20200902 OMIM 11772279 TLR7 toll like receptor 7 gene DOID:0112063 X-Linked immunodeficiency 74 ISO RGD:1353456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 74, COVID-19-related, X-linked PMID:32706371 11772279 TLR7 toll like receptor 7 gene DOID:11168 anogenital venereal wart ISO RGD:1353456 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 11772279 TLR7 toll like receptor 7 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1353456 D RGD:9068941 20200609 RGD associated with Bronchiolitis; mRNA:increased expression:nasopharynx (human) PMID:19386802|REF_RGD_ID:5129471 11772279 TLR7 toll like receptor 7 gene DOID:12849 autistic disorder ISO RGD:1353456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11772279 TLR7 toll like receptor 7 gene DOID:1883 hepatitis C ISO RGD:1353456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27385120 11772279 TLR7 toll like receptor 7 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1558497 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (mouse) PMID:18256364|REF_RGD_ID:7246909 11772279 TLR7 toll like receptor 7 gene DOID:3042 allergic contact dermatitis ISO RGD:1353456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 11772279 TLR7 toll like receptor 7 gene DOID:630 genetic disease ISO RGD:1353456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11772279 TLR7 toll like receptor 7 gene DOID:684 hepatocellular carcinoma ISO RGD:1353456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24990399 11772279 TLR7 toll like receptor 7 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1563357 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum PMID:19608731|REF_RGD_ID:5128779 11772279 TLR7 toll like receptor 7 gene DOID:9000889 Escherichia Coli Meningitis ISO RGD:1558497 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:12781911|REF_RGD_ID:7794740 11772279 TLR7 toll like receptor 7 gene DOID:9001314 Systemic Lupus Erythematosus 17 ISO RGD:1353456 D RGD:7240710 20220518 OMIM 11772279 TLR7 toll like receptor 7 gene DOID:9001314 Systemic Lupus Erythematosus 17 ISO RGD:1353456 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus 17 PMID:35477763 11772279 TLR7 toll like receptor 7 gene DOID:9001472 Nasal Polyps ISO RGD:1353456 D RGD:9068941 20200609 RGD associated with Rhinosinusitis;mRNA,protein:increased expression: PMID:23157229|REF_RGD_ID:7800741 11772279 TLR7 toll like receptor 7 gene DOID:9001499 Orthomyxoviridae Infections ISO RGD:1353456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22916010 11772279 TLR7 toll like receptor 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11772279 TLR7 toll like receptor 7 gene DOID:9074 systemic lupus erythematosus ISO RGD:1353456 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus PMID:35477763 11772286 SYT5 synaptotagmin 5 gene DOID:0110936 nemaline myopathy 5 ISO RGD:731962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5 PMID:28492532 11772286 SYT5 synaptotagmin 5 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 11772286 SYT5 synaptotagmin 5 gene DOID:630 genetic disease ISO RGD:731962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772310 RAB11FIP4 RAB11 family interacting protein 4 gene DOID:10283 prostate cancer ISO RGD:1348691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11772310 RAB11FIP4 RAB11 family interacting protein 4 gene DOID:1969 cerebral palsy ISO RGD:1348691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 11772310 RAB11FIP4 RAB11 family interacting protein 4 gene DOID:630 genetic disease ISO RGD:1348691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772310 RAB11FIP4 RAB11 family interacting protein 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1348691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 11772335 SYCE1L synaptonemal complex central element protein 1 like gene DOID:0070168 spermatogenic failure 3 ISO RGD:2902459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:28492532|PMID:31479588 11772335 SYCE1L synaptonemal complex central element protein 1 like gene DOID:630 genetic disease ISO RGD:2902459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772357 RNF25 ring finger protein 25 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1323079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11772357 RNF25 ring finger protein 25 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1323079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11772357 RNF25 ring finger protein 25 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1323079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11772357 RNF25 ring finger protein 25 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1323079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11772357 RNF25 ring finger protein 25 gene DOID:630 genetic disease ISO RGD:1323079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772357 RNF25 ring finger protein 25 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11772384 CENPQ centromere protein Q gene DOID:630 genetic disease ISO RGD:1344338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772401 TP53TG5 TP53 target 5 gene DOID:2234 focal epilepsy ISO RGD:1350426 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11772401 TP53TG5 TP53 target 5 gene DOID:630 genetic disease ISO RGD:1350426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772401 TP53TG5 TP53 target 5 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1350426 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11772410 SSC5D scavenger receptor cysteine rich family member with 5 domains gene DOID:630 genetic disease ISO RGD:1604711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772427 ZDHHC22 zinc finger DHHC-type palmitoyltransferase 22 gene DOID:1059 intellectual disability ISO RGD:1318218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11772427 ZDHHC22 zinc finger DHHC-type palmitoyltransferase 22 gene DOID:630 genetic disease ISO RGD:1318218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772459 ATXN1L ataxin 1 like gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1626546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11772459 ATXN1L ataxin 1 like gene DOID:630 genetic disease ISO RGD:1626546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772459 ATXN1L ataxin 1 like gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1626546 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17322884 11772482 AGBL2 AGBL carboxypeptidase 2 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1602682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11772482 AGBL2 AGBL carboxypeptidase 2 gene DOID:1059 intellectual disability ISO RGD:1602682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11772482 AGBL2 AGBL carboxypeptidase 2 gene DOID:630 genetic disease ISO RGD:1602682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772504 ADCY3 adenylate cyclase 3 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:732499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 11772504 ADCY3 adenylate cyclase 3 gene DOID:11713 diabetic angiopathy ISO RGD:732499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 11772504 ADCY3 adenylate cyclase 3 gene DOID:11981 morbid obesity ISO RGD:732499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29311637 11772504 ADCY3 adenylate cyclase 3 gene DOID:1470 major depressive disorder ISO RGD:732500 D RGD:9068941 20220825 MouseDO OMIM:608520 | OMIM:608691 11772504 ADCY3 adenylate cyclase 3 gene DOID:630 genetic disease ISO RGD:732499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772504 ADCY3 adenylate cyclase 3 gene DOID:9970 obesity ISO RGD:732499 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 PMID:25741868|PMID:29311636|PMID:29311637 11772534 TEAD1 TEA domain transcription factor 1 gene DOID:0111228 Sveinsson chorioretinal atrophy ISO RGD:1351522 D RGD:7240710 20180130 OMIM 11772534 TEAD1 TEA domain transcription factor 1 gene DOID:0111228 Sveinsson chorioretinal atrophy ISO RGD:1351522 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Helicoid peripapillary chorioretinal degeneration PMID:15016762|PMID:15359244|PMID:17689488|PMID:25741868|PMID:28492532|PMID:33864784 11772534 TEAD1 TEA domain transcription factor 1 gene DOID:1059 intellectual disability ISO RGD:1351522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11772534 TEAD1 TEA domain transcription factor 1 gene DOID:630 genetic disease ISO RGD:1351522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11772599 WDR7 WD repeat domain 7 gene DOID:630 genetic disease ISO RGD:736419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772632 CD247 CD247 molecule gene DOID:0080600 COVID-19 ISO RGD:736538 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11772632 CD247 CD247 molecule gene DOID:0111942 immunodeficiency 25 ISO RGD:736538 D RGD:7240710 20180130 OMIM 11772632 CD247 CD247 molecule gene DOID:0111942 immunodeficiency 25 ISO RGD:736538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:16672702|PMID:17170122|PMID:17576681|PMID:25741868|PMID:26542031|PMID:28492532|PMID:9536098 11772632 CD247 CD247 molecule gene DOID:1540 parathyroid carcinoma ISO RGD:736538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11772632 CD247 CD247 molecule gene DOID:418 systemic scleroderma ISO RGD:736538 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20383147 11772632 CD247 CD247 molecule gene DOID:630 genetic disease ISO RGD:736538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11772632 CD247 CD247 molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11772647 MSLN mesothelin gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1349818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 11772647 MSLN mesothelin gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1349818 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11772647 MSLN mesothelin gene DOID:14566 disease of cellular proliferation ISO RGD:1349818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23277285 11772647 MSLN mesothelin gene DOID:1532 pleural disease ISO RGD:1349818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23277285 11772647 MSLN mesothelin gene DOID:1790 malignant mesothelioma ISO RGD:1349818 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:19190155|PMID:27032653 11772647 MSLN mesothelin gene DOID:1793 pancreatic cancer ISO RGD:1349818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11751476 11772647 MSLN mesothelin gene DOID:1793 pancreatic cancer ISO RGD:1349818 D RGD:9068941 20200609 RGD PMID:17785569|PMID:18281514|PMID:19843662|REF_RGD_ID:2326052|REF_RGD_ID:2326056|REF_RGD_ID:2326062 11772647 MSLN mesothelin gene DOID:1793 pancreatic cancer ISO RGD:1349818 D RGD:9068941 20200609 RGD associated with Pancreatic Disease; protein:increased expression:pancreas PMID:17019794|REF_RGD_ID:2326060 11772647 MSLN mesothelin gene DOID:1826 epilepsy ISO RGD:1349818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11772647 MSLN mesothelin gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1349818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11772647 MSLN mesothelin gene DOID:2394 ovarian cancer ISO RGD:1349818 D RGD:9068941 20200609 RGD PMID:17581599|PMID:17785569|REF_RGD_ID:2326057|REF_RGD_ID:2326062 11772647 MSLN mesothelin gene DOID:26 pancreas disease ISO RGD:1349818 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19843662|REF_RGD_ID:2326052 11772647 MSLN mesothelin gene DOID:299 adenocarcinoma ISO RGD:1349818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11751476 11772647 MSLN mesothelin gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1349818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14576474|PMID:21775916|PMID:25347530 11772647 MSLN mesothelin gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1349818 D RGD:9068941 20200609 RGD DNA:hypomethylation:5'UTR PMID:12874021|REF_RGD_ID:2326065 11772647 MSLN mesothelin gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1349818 D RGD:9068941 20200609 RGD protein:increased secretion:serum PMID:19818733|REF_RGD_ID:2326055 11772647 MSLN mesothelin gene DOID:4608 common bile duct neoplasm ISO RGD:1349818 D RGD:9068941 20200609 RGD protein:increased expression:common bile duct, ampulla of vater PMID:16416732|REF_RGD_ID:2326064 11772647 MSLN mesothelin gene DOID:4897 bile duct carcinoma ISO RGD:1349818 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:17276942|REF_RGD_ID:2326059 11772647 MSLN mesothelin gene DOID:4947 cholangiocarcinoma ISO RGD:1349818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14576474 11772647 MSLN mesothelin gene DOID:630 genetic disease ISO RGD:1349818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772647 MSLN mesothelin gene DOID:9000081 Lymphatic Metastasis ISO RGD:1349818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22644300 11772647 MSLN mesothelin gene DOID:9000217 Stomach Neoplasms ISO RGD:1349818 D RGD:9068941 20230128 CTD CTD Direct Evidence: marker/mechanism PMID:22644300|PMID:35396937 11772647 MSLN mesothelin gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1349818 D RGD:9068941 20230128 CTD CTD Direct Evidence: marker/mechanism PMID:35396937 11772647 MSLN mesothelin gene DOID:9000918 Disease Progression ISO RGD:1349818 D RGD:9068941 20230128 CTD CTD Direct Evidence: marker/mechanism PMID:35396937 11772647 MSLN mesothelin gene DOID:9002762 Ovarian Neoplasms ISO RGD:1349818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11751476 11772647 MSLN mesothelin gene DOID:9002899 Mesothelial Neoplasms ISO RGD:1349818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20371980|PMID:21984916 11772647 MSLN mesothelin gene DOID:9003566 Mesothelioma ISO RGD:1349818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11751476|PMID:18394747|PMID:20933535 11772647 MSLN mesothelin gene DOID:9003566 Mesothelioma ISO RGD:1349818 D RGD:9068941 20200609 RGD PMID:17785569|REF_RGD_ID:2326062 11772647 MSLN mesothelin gene DOID:9003566 Mesothelioma ISO RGD:69333 D RGD:9068941 20200609 RGD protein:increased secretion:body fluid PMID:18505465|REF_RGD_ID:2326046 11772647 MSLN mesothelin gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1349818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14576474 11772673 DDX10 DEAD-box helicase 10 gene DOID:1059 intellectual disability ISO RGD:1319083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11772673 DDX10 DEAD-box helicase 10 gene DOID:12704 ataxia telangiectasia ISO RGD:1319083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11772673 DDX10 DEAD-box helicase 10 gene DOID:630 genetic disease ISO RGD:1319083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772673 DDX10 DEAD-box helicase 10 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1319083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11772673 DDX10 DEAD-box helicase 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319083 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 11772696 MITF melanocyte inducing transcription factor gene DOID:0050563 nonsyndromic deafness ISO RGD:735982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:25741868|PMID:28492532|PMID:28690485|PMID:30311386|PMID:31898538 11772696 MITF melanocyte inducing transcription factor gene DOID:0050632 oculocutaneous albinism ISO RGD:735982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9158138 11772696 MITF melanocyte inducing transcription factor gene DOID:0090002 Tietz syndrome ISO RGD:735982 D RGD:7240710 20230517 OMIM 11772696 MITF melanocyte inducing transcription factor gene DOID:0090002 Tietz syndrome ISO RGD:735982 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tietz syndrome PMID:10587587|PMID:10851256|PMID:13985019|PMID:16199547|PMID:17318840|PMID:17576681|PMID:20127975|PMID:21373256|PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24194866|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26850479|PMID:26999813|PMID:27153395|PMID:27349893|PMID:27473757|PMID:27680874|PMID:27759048|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29115496|PMID:29484430|PMID:29506128|PMID:29625052|PMID:29706638|PMID:30117279|PMID:30414346|PMID:30549420|PMID:30936914|PMID:31213145|PMID:31427586|PMID:31465090|PMID:31898538|PMID:32054529|PMID:32728090|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886|PMID:35802133|PMID:36633841|PMID:8589691|PMID:8659547|PMID:9536098 11772696 MITF melanocyte inducing transcription factor gene DOID:0090100 ocular albinism with sensorineural deafness ISO RGD:735983 D RGD:9068941 20220825 MouseDO OMIM:103470 11772696 MITF melanocyte inducing transcription factor gene DOID:0110948 Waardenburg syndrome type 1 ISO RGD:735982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 1 PMID:25741868 11772696 MITF melanocyte inducing transcription factor gene DOID:0110950 Waardenburg syndrome type 2A ISO RGD:735982 D RGD:7240710 20230517 OMIM 11772696 MITF melanocyte inducing transcription factor gene DOID:0110950 Waardenburg syndrome type 2A ISO RGD:735982 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 2A PMID:10587587|PMID:10851256|PMID:15284851|PMID:17576681|PMID:20127975|PMID:21373256|PMID:21438779|PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:27759048|PMID:27889061|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28690485|PMID:28825054|PMID:29115496|PMID:29407415|PMID:29506128|PMID:29625052|PMID:29706638|PMID:30117279|PMID:30311386|PMID:30414346|PMID:30549420|PMID:31213145|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34599368|PMID:34662886|PMID:35802133|PMID:36633841|PMID:666627|PMID:7874167|PMID:8589691|PMID:8659547|PMID:9158138|PMID:9536098|PMID:9856573 11772696 MITF melanocyte inducing transcription factor gene DOID:0110956 Waardenburg syndrome type 2E ISO RGD:735982 D RGD:9068941 20220714 CTD CTD Direct Evidence: marker/mechanism PMID:9158138 11772696 MITF melanocyte inducing transcription factor gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:735982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 11772696 MITF melanocyte inducing transcription factor gene DOID:10003 sensorineural hearing loss ISO RGD:735982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital sensorineural hearing impairment PMID:25741868|PMID:29407415 11772696 MITF melanocyte inducing transcription factor gene DOID:10123 pigmentation disease ISO RGD:735982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9158138 11772696 MITF melanocyte inducing transcription factor gene DOID:1059 intellectual disability ISO RGD:735982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10851256|PMID:25741868|PMID:28492532 11772696 MITF melanocyte inducing transcription factor gene DOID:13533 osteopetrosis ISO RGD:735983 D RGD:9068941 20220825 MouseDO 11772696 MITF melanocyte inducing transcription factor gene DOID:14021 Tietze's syndrome ISO RGD:735982 D RGD:9068941 20200609 RGD PMID:10851256|REF_RGD_ID:1599943 11772696 MITF melanocyte inducing transcription factor gene DOID:1909 melanoma ISO RGD:735982 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Melanoma PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886 11772696 MITF melanocyte inducing transcription factor gene DOID:1909 melanoma ISO RGD:735982 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Melanoma PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886 11772696 MITF melanocyte inducing transcription factor gene DOID:4450 renal cell carcinoma ISO RGD:735982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22012259 11772696 MITF melanocyte inducing transcription factor gene DOID:4997 Camurati-Engelmann disease ISO RGD:735983 D RGD:9068941 20220825 MouseDO OMIM:131300 | OMIM:606631 11772696 MITF melanocyte inducing transcription factor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11772696 MITF melanocyte inducing transcription factor gene DOID:630 genetic disease ISO RGD:735982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 11772696 MITF melanocyte inducing transcription factor gene DOID:6846 familial melanoma ISO RGD:735982 D RGD:7240710 20230517 OMIM 11772696 MITF melanocyte inducing transcription factor gene DOID:6846 familial melanoma ISO RGD:735982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28376192|PMID:28492532|PMID:29706638|PMID:30414346 11772696 MITF melanocyte inducing transcription factor gene DOID:6846 familial melanoma ISO RGD:735982 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8 PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886 11772696 MITF melanocyte inducing transcription factor gene DOID:8923 skin melanoma ISO RGD:735982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22080950 11772696 MITF melanocyte inducing transcription factor gene DOID:9000714 COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS ISO RGD:735982 D RGD:7240710 20230517 OMIM 11772696 MITF melanocyte inducing transcription factor gene DOID:9000714 COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS ISO RGD:735982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness PMID:27889061|PMID:30311386|PMID:34599368 11772696 MITF melanocyte inducing transcription factor gene DOID:9002843 Waardenburg Syndrome Type 2 ISO RGD:735982 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 2 PMID:17576681|PMID:21373256|PMID:28492532|PMID:30117279|PMID:35802133|PMID:36633841|PMID:9536098 11772696 MITF melanocyte inducing transcription factor gene DOID:9004538 Hearing Loss ISO RGD:735982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:8659547|PMID:9856573 11772696 MITF melanocyte inducing transcription factor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735982 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33240314 11772696 MITF melanocyte inducing transcription factor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735982 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886 11772696 MITF melanocyte inducing transcription factor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735982 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886 11772696 MITF melanocyte inducing transcription factor gene DOID:9007388 Heterochromia Iridis ISO RGD:735982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterochromia iridis PMID:25741868|PMID:8659547|PMID:9856573 11772696 MITF melanocyte inducing transcription factor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:735982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 11772696 MITF melanocyte inducing transcription factor gene DOID:9008681 Deafness ISO RGD:735982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9158138 11772696 MITF melanocyte inducing transcription factor gene DOID:9258 Waardenburg's syndrome ISO RGD:735982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome PMID:25741868|PMID:30311386 11772721 TATDN3 TatD DNase domain containing 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1604534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11772721 TATDN3 TatD DNase domain containing 3 gene DOID:630 genetic disease ISO RGD:1604534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772721 TATDN3 TatD DNase domain containing 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11772740 NSMCE1 NSE1 homolog, SMC5-SMC6 complex component gene DOID:630 genetic disease ISO RGD:1350522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772764 PRMT9 protein arginine methyltransferase 9 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1601836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 11772764 PRMT9 protein arginine methyltransferase 9 gene DOID:630 genetic disease ISO RGD:1601836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772764 PRMT9 protein arginine methyltransferase 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868 11772782 CLTB clathrin light chain B gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:733395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11772782 CLTB clathrin light chain B gene DOID:0112103 Sotos syndrome 1 ISO RGD:733395 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11772782 CLTB clathrin light chain B gene DOID:630 genetic disease ISO RGD:733395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772782 CLTB clathrin light chain B gene DOID:9005172 Lung Neoplasms ISO RGD:733395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 11772791 IGSF23 immunoglobulin superfamily member 23 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:5132191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 11772791 IGSF23 immunoglobulin superfamily member 23 gene DOID:630 genetic disease ISO RGD:5132191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772800 SUCLA2 succinate-CoA ligase ADP-forming subunit beta gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1319721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11772800 SUCLA2 succinate-CoA ligase ADP-forming subunit beta gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:1319721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 11772800 SUCLA2 succinate-CoA ligase ADP-forming subunit beta gene DOID:0080124 mitochondrial DNA depletion syndrome 5 ISO RGD:1319721 D RGD:7240710 20180130 OMIM 11772800 SUCLA2 succinate-CoA ligase ADP-forming subunit beta gene DOID:0080124 mitochondrial DNA depletion syndrome 5 ISO RGD:1319721 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH OR WITHOUT METHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVE, SUCLA2-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:15877282|PMID:16199547|PMID:17287286|PMID:17301081|PMID:17576681|PMID:20301762|PMID:20843780|PMID:23759946|PMID:24033266|PMID:24659738|PMID:24986829|PMID:25741868|PMID:26467025|PMID:26475597|PMID:27651038|PMID:27913098|PMID:28492532|PMID:28749033|PMID:30315573|PMID:32404165|PMID:32718099|PMID:33231368|PMID:9536098 11772800 SUCLA2 succinate-CoA ligase ADP-forming subunit beta gene DOID:1059 intellectual disability ISO RGD:1319721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11772800 SUCLA2 succinate-CoA ligase ADP-forming subunit beta gene DOID:630 genetic disease ISO RGD:1319721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:26475597|PMID:27651038|PMID:28492532|PMID:33231368 11772800 SUCLA2 succinate-CoA ligase ADP-forming subunit beta gene DOID:9008086 Developmental Disabilities ISO RGD:1319721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 11772800 SUCLA2 succinate-CoA ligase ADP-forming subunit beta gene DOID:9970 obesity ISO RGD:1319721 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 11772817 MADCAM1 mucosal vascular addressin cell adhesion molecule 1 gene DOID:0060180 colitis ISO RGD:1344591 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16917232 11772817 MADCAM1 mucosal vascular addressin cell adhesion molecule 1 gene DOID:3044 food allergy ISO RGD:3029 D RGD:9068941 20200609 RGD PMID:14670821|REF_RGD_ID:2311549 11772817 MADCAM1 mucosal vascular addressin cell adhesion molecule 1 gene DOID:5119 ovarian cyst ISO RGD:1344591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 11772817 MADCAM1 mucosal vascular addressin cell adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:1344591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772817 MADCAM1 mucosal vascular addressin cell adhesion molecule 1 gene DOID:8778 Crohn's disease ISO RGD:3029 D RGD:9068941 20200609 RGD PMID:11703369|REF_RGD_ID:2311550 11772817 MADCAM1 mucosal vascular addressin cell adhesion molecule 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:731299 D RGD:9068941 20200609 RGD PMID:17827401|PMID:9313747|REF_RGD_ID:2311544|REF_RGD_ID:2311545 11772827 TP53 tumor protein p53 gene DOID:0001816 angiosarcoma ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10930038|PMID:13678655|PMID:20737008 11772827 TP53 tumor protein p53 gene DOID:0001816 angiosarcoma ISO RGD:11440 D RGD:9068941 20220310 RGD DNA:mutation:multiple (human) PMID:26440310|REF_RGD_ID:151665099 11772827 TP53 tumor protein p53 gene DOID:0001816 angiosarcoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10626228 11772827 TP53 tumor protein p53 gene DOID:0002116 pterygium ISO RGD:70502 D RGD:9068941 20200609 RGD protein:altered expression:pterygia: PMID:19065760|REF_RGD_ID:8547760 11772827 TP53 tumor protein p53 gene DOID:0050638 transthyretin amyloidosis ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis PMID:10432928|PMID:10589545|PMID:10922393|PMID:12826609|PMID:15037740|PMID:15977174|PMID:17015838|PMID:18307025|PMID:19101993|PMID:20128691|PMID:20407015|PMID:20805372|PMID:21343334|PMID:21356188|PMID:21761402|PMID:22923379|PMID:23630318|PMID:24381225|PMID:24487413|PMID:24641375|PMID:24702488|PMID:25741868|PMID:26467025|PMID:26619011|PMID:27714481|PMID:28492532|PMID:29979965|PMID:30224644|PMID:30816478|PMID:8118819|PMID:9242456|PMID:9662334 11772827 TP53 tumor protein p53 gene DOID:0050685 small cell carcinoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17290066 11772827 TP53 tumor protein p53 gene DOID:0050700 cardiomyopathy ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16013437 11772827 TP53 tumor protein p53 gene DOID:0050700 cardiomyopathy ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31618665 11772827 TP53 tumor protein p53 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:11440 D RGD:9068941 20220825 MouseDO 11772827 TP53 tumor protein p53 gene DOID:0050834 CHARGE syndrome ISO RGD:11440 D RGD:9068941 20220825 MouseDO OMIM:214800 11772827 TP53 tumor protein p53 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:8264230|REF_RGD_ID:13210753 11772827 TP53 tumor protein p53 gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:3889 D RGD:9068941 20200609 RGD protein:increased expression:tongue: PMID:20385474|REF_RGD_ID:8547851 11772827 TP53 tumor protein p53 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:11440 D RGD:9068941 20220826 RGD protein:increased expression:mouth (human) PMID:34111459|REF_RGD_ID:153344573 11772827 TP53 tumor protein p53 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:missense mutations: :multiple PMID:27283772|REF_RGD_ID:14995497 11772827 TP53 tumor protein p53 gene DOID:0050902 medulloblastoma ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma, somatic PMID:10411893|PMID:10797439|PMID:10864200|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12007217|PMID:12672316|PMID:12826609|PMID:12917626|PMID:1359493|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15951970|PMID:1631137|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:1737852|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18511570|PMID:18685109|PMID:19378321|PMID:19556618|PMID:1978757|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21187651|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22983585|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26271412|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27533082|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27895058|PMID:27959731|PMID:28152038|PMID:2826609|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28915717|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31775759|PMID:32000721|PMID:7732013|PMID:7887414|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8825920|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9632751|PMID:9635828|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:0050902 medulloblastoma ISO RGD:70502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic PMID:10411893|PMID:10797439|PMID:10864200|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12672316|PMID:12826609|PMID:12917626|PMID:1359493|PMID:15004724|PMID:15017592|PMID:15381368|PMID:15390294|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15951970|PMID:1631137|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:1737852|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18511570|PMID:19378321|PMID:19556618|PMID:1978757|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21187651|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22983585|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31775759|PMID:32000721|PMID:7732013|PMID:7887414|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8825920|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9632751|PMID:9635828|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:0050902 medulloblastoma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:10411893|PMID:10797439|PMID:10864200|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12672316|PMID:12826609|PMID:12917626|PMID:1359493|PMID:15004724|PMID:15017592|PMID:15381368|PMID:15390294|PMID:15607980|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15951970|PMID:1631137|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17308077|PMID:1737852|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18511570|PMID:19378321|PMID:19556618|PMID:1978757|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21187651|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22983585|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26332594|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30216591|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:33245408|PMID:33257846|PMID:33372952|PMID:7732013|PMID:7887414|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8825920|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9632751|PMID:9635828|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:0050902 medulloblastoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:10411893|PMID:10797439|PMID:10864200|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12007217|PMID:12672316|PMID:12826609|PMID:12917626|PMID:1359493|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15951970|PMID:1631137|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17308077|PMID:1737852|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18511570|PMID:18685109|PMID:19378321|PMID:19556618|PMID:1978757|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21187651|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22983585|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23538418|PMID:23612969|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26332594|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30216591|PMID:30224644|PMID:30327374|PMID:30546832|PMID:30816478|PMID:31119730|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:33245408|PMID:33257846|PMID:33372952|PMID:7732013|PMID:7887414|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8825920|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9632751|PMID:9635828|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:0050902 medulloblastoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:10411893|PMID:10797439|PMID:10864200|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12007217|PMID:12672316|PMID:12826609|PMID:12917626|PMID:1359493|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15951970|PMID:1631137|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17308077|PMID:1737852|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18511570|PMID:18685109|PMID:19378321|PMID:19556618|PMID:1978757|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21059199|PMID:21187651|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22983585|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23538418|PMID:23612969|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26271412|PMID:26332594|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30216591|PMID:30224644|PMID:30327374|PMID:30546832|PMID:30816478|PMID:31105275|PMID:31119730|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:33245408|PMID:33257846|PMID:33372952|PMID:36988593|PMID:7732013|PMID:7887414|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8825920|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9632751|PMID:9635828|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:0050902 medulloblastoma disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:11451203|REF_RGD_ID:8547823 11772827 TP53 tumor protein p53 gene DOID:0050908 myelodysplastic syndrome ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:10411893|PMID:10797439|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12826609|PMID:1359493|PMID:15004724|PMID:15381368|PMID:1565143|PMID:15722483|PMID:15825182|PMID:1631137|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17417627|PMID:17427234|PMID:17606709|PMID:18511570|PMID:19378321|PMID:19556618|PMID:1978757|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:21059199|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22265402|PMID:22713868|PMID:22915647|PMID:22919068|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23538418|PMID:23667202|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24810334|PMID:25157968|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28724667|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31775759|PMID:32000721|PMID:33372952|PMID:36988593|PMID:7887414|PMID:8062826|PMID:8099841|PMID:8425176|PMID:8527048|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:25412846|REF_RGD_ID:11057925 11772827 TP53 tumor protein p53 gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:mutation: : PMID:24836762|REF_RGD_ID:11073714 11772827 TP53 tumor protein p53 gene DOID:0050908 myelodysplastic syndrome no_association ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:SNP:cds: p.R72P(rs1042522)(human) PMID:22668018|REF_RGD_ID:11073731 11772827 TP53 tumor protein p53 gene DOID:0050908 myelodysplastic syndrome treatment ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:24043769|REF_RGD_ID:11073729 11772827 TP53 tumor protein p53 gene DOID:0050908 myelodysplastic syndrome treatment ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:25573287|REF_RGD_ID:11075071 11772827 TP53 tumor protein p53 gene DOID:0060058 lymphoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lymphoma PMID:10411893|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:12826609|PMID:15004724|PMID:15381368|PMID:1565143|PMID:15722483|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17606709|PMID:18511570|PMID:19556618|PMID:1978757|PMID:20113312|PMID:20128691|PMID:20407015|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24641375|PMID:24651012|PMID:24810334|PMID:25157968|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28492532|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31775759|PMID:32000721|PMID:33372952|PMID:36988593|PMID:7887414|PMID:8062826|PMID:9242456|PMID:9546439|PMID:9569050 11772827 TP53 tumor protein p53 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant lymphoma, non-Hodgkin | ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:10864200|PMID:10922393|PMID:11370630|PMID:11429705|PMID:11782540|PMID:11896595|PMID:11920959|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1565143|PMID:1565144|PMID:15850016|PMID:15982667|PMID:16007150|PMID:16312222|PMID:16818505|PMID:16861262|PMID:17606709|PMID:17724467|PMID:18453682|PMID:18555592|PMID:19012332|PMID:19171880|PMID:19468865|PMID:19556618|PMID:19913028|PMID:20128691|PMID:20407015|PMID:20505364|PMID:20972454|PMID:21059199|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21519010|PMID:21674059|PMID:21761402|PMID:22186996|PMID:22672556|PMID:22887876|PMID:22915647|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23259501|PMID:24573247|PMID:25186627|PMID:25584008|PMID:25619955|PMID:25741868|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26230955|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26787237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27077130|PMID:27276561|PMID:27463065|PMID:27616075|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28279309|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28802053|PMID:28975465|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29581140|PMID:29955864|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30675318|PMID:30730202|PMID:30816478|PMID:31775759|PMID:32000721|PMID:32318955|PMID:32475984|PMID:8023157|PMID:8401536|PMID:8633021|PMID:8718514|PMID:8829627 11772827 TP53 tumor protein p53 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 11772827 TP53 tumor protein p53 gene DOID:0060071 pre-malignant neoplasm ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21317887 11772827 TP53 tumor protein p53 gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:3889 D RGD:9068941 20200609 RGD PMID:28573231|REF_RGD_ID:14995494 11772827 TP53 tumor protein p53 gene DOID:0060074 ductal carcinoma in situ ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ductal carcinoma in situ PMID:10411893|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:12826609|PMID:15004724|PMID:15381368|PMID:1565143|PMID:15722483|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17606709|PMID:18511570|PMID:19556618|PMID:1978757|PMID:20113312|PMID:20128691|PMID:20407015|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24641375|PMID:24651012|PMID:24810334|PMID:25157968|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28492532|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31775759|PMID:32000721|PMID:33372952|PMID:36988593|PMID:7887414|PMID:8062826|PMID:9242456|PMID:9546439|PMID:9569050 11772827 TP53 tumor protein p53 gene DOID:0070004 myeloid neoplasm ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29370077 11772827 TP53 tumor protein p53 gene DOID:0070019 autosomal recessive dyskeratosis congenita 3 ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 3 PMID:17683073|PMID:24033266|PMID:25741868|PMID:28492532 11772827 TP53 tumor protein p53 gene DOID:0080006 bone development disease ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9493073 11772827 TP53 tumor protein p53 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11772827 TP53 tumor protein p53 gene DOID:0080199 colorectal carcinoma ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:missense mutation::p.R72P (human) PMID:29560751|REF_RGD_ID:14995498 11772827 TP53 tumor protein p53 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:70502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:10713666|PMID:11479205|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12826609|PMID:16494995|PMID:16736287|PMID:1673792|PMID:16861262|PMID:1686725|PMID:17541742|PMID:17606709|PMID:18208484|PMID:19468865|PMID:20128691|PMID:20522432|PMID:21343334|PMID:21626334|PMID:23259501|PMID:23625637|PMID:24033266|PMID:24384472|PMID:24728327|PMID:25503501|PMID:25584008|PMID:25741868|PMID:26270727|PMID:26467025|PMID:26619011|PMID:27489289|PMID:28369373|PMID:28492532|PMID:28861920|PMID:29324801|PMID:29489754|PMID:29979965|PMID:30224644|PMID:30299350|PMID:30720243|PMID:31775759|PMID:7707106|PMID:7881428|PMID:8080050|PMID:8364550|PMID:8869100 11772827 TP53 tumor protein p53 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:10713666|PMID:11479205|PMID:11782540|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12826609|PMID:14559903|PMID:16322298|PMID:16494995|PMID:16736287|PMID:1673792|PMID:16818505|PMID:16861262|PMID:1686725|PMID:17541742|PMID:17606709|PMID:17724467|PMID:18208484|PMID:18818522|PMID:19468865|PMID:20128691|PMID:20407015|PMID:20505364|PMID:20522432|PMID:21343334|PMID:21514416|PMID:21519010|PMID:21626334|PMID:21761402|PMID:22186996|PMID:22915647|PMID:23246812|PMID:23259501|PMID:23625637|PMID:24033266|PMID:24384472|PMID:24728327|PMID:25503501|PMID:25584008|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26270727|PMID:26467025|PMID:26585234|PMID:26619011|PMID:27276561|PMID:27463065|PMID:27489289|PMID:27533082|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28369373|PMID:28492532|PMID:28861920|PMID:29070607|PMID:29324801|PMID:29470806|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30224644|PMID:30299350|PMID:30327374|PMID:30630526|PMID:30720243|PMID:30840781|PMID:31119730|PMID:31775759|PMID:33332384|PMID:33372952|PMID:34805717|PMID:6736287|PMID:7707106|PMID:7881428|PMID:8080050|PMID:8364550|PMID:8869100 11772827 TP53 tumor protein p53 gene DOID:0080202 adenoid cystic carcinoma disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:16249115|REF_RGD_ID:8547828 11772827 TP53 tumor protein p53 gene DOID:0080522 thyroid gland anaplastic carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Thyroid gland undifferentiated (anaplastic) carcinoma PMID:10864200|PMID:12672316|PMID:12826609|PMID:15390294|PMID:15607980|PMID:1565144|PMID:15951970|PMID:16401470|PMID:16489069|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18511570|PMID:20128691|PMID:20516128|PMID:20693561|PMID:21343334|PMID:21484931|PMID:21552135|PMID:21761402|PMID:22811390|PMID:22899716|PMID:23161690|PMID:24381225|PMID:24487413|PMID:24641375|PMID:24677579|PMID:25157968|PMID:25584008|PMID:25741868|PMID:25787918|PMID:26332594|PMID:26467025|PMID:26619011|PMID:26681312|PMID:27374712|PMID:27993330|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29489754|PMID:29979965|PMID:30224644|PMID:30816478|PMID:31882575|PMID:33372952|PMID:36988593|PMID:7732013|PMID:8423216|PMID:9242456|PMID:9569050 11772827 TP53 tumor protein p53 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:22699455|REF_RGD_ID:11075072 11772827 TP53 tumor protein p53 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24056718 11772827 TP53 tumor protein p53 gene DOID:0081267 graft-versus-host disease ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:epithelium PMID:16393253|REF_RGD_ID:8547841 11772827 TP53 tumor protein p53 gene DOID:0081292 traumatic brain injury treatment ISO RGD:3889 D RGD:9068941 20200609 RGD PMID:27553877|REF_RGD_ID:14995939 11772827 TP53 tumor protein p53 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 11772827 TP53 tumor protein p53 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 11772827 TP53 tumor protein p53 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:20369488|REF_RGD_ID:8547768 11772827 TP53 tumor protein p53 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:70502 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11772827 TP53 tumor protein p53 gene DOID:0111503 Li-Fraumeni syndrome 1 ISO RGD:70502 D RGD:7240710 20180130 OMIM 11772827 TP53 tumor protein p53 gene DOID:0111503 Li-Fraumeni syndrome 1 ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 PMID:10064694|PMID:10229196|PMID:10366100|PMID:10389749|PMID:10408787|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10477429|PMID:10484981|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10606817|PMID:10706125|PMID:10713666|PMID:10719737|PMID:10753186|PMID:10754498|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10854221|PMID:10864200|PMID:10871862|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11040944|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11152481|PMID:11161397|PMID:11180592|PMID:11222779|PMID:11254385|PMID:11313981|PMID:11315715|PMID:11332399|PMID:11358831|PMID:11359905|PMID:11370630|PMID:11391594|PMID:11403041|PMID:11420676|PMID:11423991|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668501|PMID:11715068|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12034820|PMID:12067251|PMID:12170762|PMID:12209975|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12610779|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12716906|PMID:12726864|PMID:12779080|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1394133|PMID:14559903|PMID:14584079|PMID:14612556|PMID:14670539|PMID:14673037|PMID:1467311|PMID:14965603|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15173255|PMID:15221755|PMID:15308588|PMID:15355915|PMID:1537617|PMID:15381368|PMID:15390294|PMID:15489903|PMID:15541116|PMID:15548685|PMID:15564800|PMID:15580553|PMID:1559227|PMID:15607980|PMID:15607981|PMID:1562462|PMID:15630097|PMID:1565143|PMID:1565144|PMID:15654279|PMID:1569604|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15784129|PMID:1581912|PMID:15850016|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15964795|PMID:15977174|PMID:15982667|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16209708|PMID:16229746|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16437140|PMID:1644930|PMID:16474844|PMID:16477330|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16534790|PMID:16543939|PMID:16551709|PMID:16596195|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16687402|PMID:16707427|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16818665|PMID:16821082|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16907706|PMID:16941491|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17133269|PMID:17170001|PMID:17224074|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17417775|PMID:17427234|PMID:17436385|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17627286|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17704262|PMID:17724467|PMID:17727479|PMID:17903248|PMID:17947339|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18348285|PMID:18348286|PMID:18391940|PMID:18393224|PMID:18414213|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18575712|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18762572|PMID:18798306|PMID:18818522|PMID:18843282|PMID:18923929|PMID:19012332|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19127115|PMID:19147582|PMID:1915267|PMID:19160491|PMID:19165225|PMID:19171880|PMID:1918170|PMID:19224462|PMID:19336573|PMID:1933902|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19558493|PMID:19681600|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:1978757|PMID:19806023|PMID:19834951 11772827 TP53 tumor protein p53 gene DOID:0111503 Li-Fraumeni syndrome 1 ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 PMID:19850740|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19958544|PMID:1999338|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20234365|PMID:20301488|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20426520|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20575032|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21059199|PMID:21080251|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21512767|PMID:21514416|PMID:21519010|PMID:21520333|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21878961|PMID:21904608|PMID:21934104|PMID:21946351|PMID:21953469|PMID:22006311|PMID:22046250|PMID:22052707|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22311583|PMID:22319594|PMID:22356895|PMID:22373952|PMID:22484423|PMID:22495821|PMID:22507745|PMID:22551440|PMID:22553421|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22606048|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22733133|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22800615|PMID:22811390|PMID:22829111|PMID:22866089|PMID:22877736|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:22923433|PMID:22949826|PMID:22983585|PMID:23031740|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23334666|PMID:23340422|PMID:23403321|PMID:23406775|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23571737|PMID:23580068|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23742673|PMID:23792586|PMID:23863845|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23967324|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24218030|PMID:24219989|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24373500|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24448499|PMID:24451277|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24835218|PMID:24835311|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:24952744|PMID:25034526|PMID:25047674|PMID:25056374|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256751|PMID:25293557|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25422255|PMID:25433984|PMID:25452441|PMID:25460562|PMID:25490274|PMID:25503501|PMID:25512523|PMID:25516983 11772827 TP53 tumor protein p53 gene DOID:0111503 Li-Fraumeni syndrome 1 ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 PMID:25525159|PMID:25527155|PMID:25544776|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25637381|PMID:25669829|PMID:25741868|PMID:25742471|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26024390|PMID:26029016|PMID:26086041|PMID:26094658|PMID:26200271|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26527317|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26743472|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26845104|PMID:26851285|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27147571|PMID:27153395|PMID:27157322|PMID:27179933|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27276561|PMID:27276934|PMID:27297285|PMID:27328919|PMID:27341992|PMID:27374712|PMID:27391063|PMID:27418648|PMID:27443514|PMID:27449771|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27545002|PMID:27553368|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27741277|PMID:27785980|PMID:27844328|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27930734|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28202063|PMID:28230820|PMID:28234344|PMID:28255015|PMID:2826609|PMID:28279309|PMID:28288110|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477316|PMID:28477317|PMID:28484276|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28772286|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28961279|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29059199|PMID:29069792|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29263802|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29392648|PMID:29456621|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29769598|PMID:29770616|PMID:29774081|PMID:29785153|PMID:29805046|PMID:29875428|PMID:29936259|PMID:29945567|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30181807|PMID:30190792|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30239254|PMID:30240537|PMID:30262806|PMID:30267214|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30546832|PMID:30588330|PMID:30607672|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30828720|PMID:30840781|PMID:30883245|PMID:30918304|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31159747|PMID:31206626|PMID:31212162|PMID:31278746|PMID:31296311|PMID:31321604|PMID:31365877|PMID:31462179|PMID:31559875|PMID:31567591|PMID:31666926|PMID:31742824|PMID:31748977 11772827 TP53 tumor protein p53 gene DOID:0111503 Li-Fraumeni syndrome 1 ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 PMID:31749828|PMID:31775759|PMID:31881331|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32475984|PMID:32504211|PMID:32555031|PMID:32566746|PMID:32658311|PMID:32658383|PMID:32675277|PMID:32722340|PMID:32817165|PMID:32854451|PMID:32899294|PMID:32916163|PMID:32930885|PMID:33047316|PMID:33051313|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33471991|PMID:33504652|PMID:33580201|PMID:33758026|PMID:33818021|PMID:34095982|PMID:34198491|PMID:34240179|PMID:34299313|PMID:34308366|PMID:34390506|PMID:34452612|PMID:34529667|PMID:34539758|PMID:3471991|PMID:34739844|PMID:34805717|PMID:34906512|PMID:35886069|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7599045|PMID:7669577|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7731702|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8242752|PMID:8302608|PMID:8308926|PMID:8336941|PMID:8352280|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8649785|PMID:8675009|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9067756|PMID:9096669|PMID:9150393|PMID:9157982|PMID:9178891|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9470817|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9764816|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9839505|PMID:9865903|PMID:9891044|PMID:9979965 11772827 TP53 tumor protein p53 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:70502 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 11772827 TP53 tumor protein p53 gene DOID:10283 prostate cancer ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer PMID:10864200|PMID:11222779|PMID:11315715|PMID:11420676|PMID:11429705|PMID:11494139|PMID:11782540|PMID:11793474|PMID:11896595|PMID:12826609|PMID:12917626|PMID:1467311|PMID:15004724|PMID:1565144|PMID:16489069|PMID:16818505|PMID:16827139|PMID:17576681|PMID:17606709|PMID:17724467|PMID:18511570|PMID:18685109|PMID:19556618|PMID:20128691|PMID:20407015|PMID:20505364|PMID:20693561|PMID:21232794|PMID:21343334|PMID:21348412|PMID:21519010|PMID:21535297|PMID:21552135|PMID:22170717|PMID:22186996|PMID:22198284|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23265383|PMID:24033266|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24641375|PMID:24651015|PMID:24677579|PMID:25157968|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25945745|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:27276561|PMID:27374712|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27523101|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28492532|PMID:28975465|PMID:29189820|PMID:29456621|PMID:29489754|PMID:29979965|PMID:30107858|PMID:30224644|PMID:30327374|PMID:31559875|PMID:32295079|PMID:7887414|PMID:7969167|PMID:8164043|PMID:8479749|PMID:9047394|PMID:9242456|PMID:9446663|PMID:9536098|PMID:9569050|PMID:9681828 11772827 TP53 tumor protein p53 gene DOID:10283 prostate cancer disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:18225585|REF_RGD_ID:2290535 11772827 TP53 tumor protein p53 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:10064694|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15925506|PMID:15951970|PMID:15977174|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16682957|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17308077|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:18307025|PMID:18511570|PMID:18685109|PMID:18937320|PMID:19101993|PMID:19147582|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19930417|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20805372|PMID:20878954|PMID:21056685|PMID:21059199|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23263379|PMID:23265383|PMID:23538418|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25339994|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26534844|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26781615|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28160093|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30216591|PMID:30224644|PMID:30322717|PMID:30327374|PMID:30583724|PMID:30630526|PMID:30816478|PMID:30840781|PMID:31105275|PMID:31119730|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32817165|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:34026625|PMID:34308366|PMID:34994652|PMID:36988593|PMID:7651740|PMID:7732013|PMID:7737263|PMID:7791795|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8718514|PMID:8825920|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9825943|PMID:9839505 11772827 TP53 tumor protein p53 gene DOID:10534 stomach cancer ISO RGD:70502 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11896595|PMID:12007217|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15121773|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15741269|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16033918|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18248785|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18628487|PMID:19101993|PMID:19127115|PMID:19378321|PMID:19556618|PMID:19717094|PMID:1978757|PMID:19877175|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20301488|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21059199|PMID:21187651|PMID:21192060|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23255406|PMID:23263379|PMID:23469205|PMID:23538418|PMID:23570263|PMID:23630318|PMID:23667202|PMID:23733769|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24810334|PMID:24835218|PMID:24884479|PMID:24936644|PMID:25157968|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26572807|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26681051|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:27153395|PMID:27223487|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27621308|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28756477|PMID:28864397|PMID:28873162|PMID:28961258|PMID:28968711|PMID:28984303|PMID:29025599|PMID:29070607|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31775759|PMID:31882575|PMID:32000721|PMID:33372952|PMID:34095982|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9067756|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:10652 Alzheimer's disease ISO RGD:11440 D RGD:9068941 20200609 RGD PMID:17581637|REF_RGD_ID:2290573 11772827 TP53 tumor protein p53 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R72P(human) PMID:23049825|REF_RGD_ID:8547822 11772827 TP53 tumor protein p53 gene DOID:10763 hypertension ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 11772827 TP53 tumor protein p53 gene DOID:10811 nasal cavity cancer ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:19950227|REF_RGD_ID:8547762 11772827 TP53 tumor protein p53 gene DOID:10964 cholesteatoma of middle ear ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:tympanic membrane,skin: PMID:9455944|REF_RGD_ID:8547787 11772827 TP53 tumor protein p53 gene DOID:11054 urinary bladder cancer ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11376694|PMID:12706858 11772827 TP53 tumor protein p53 gene DOID:11054 urinary bladder cancer ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376482|PMID:15906354|PMID:22929185|PMID:29644616|PMID:9610789 11772827 TP53 tumor protein p53 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:18208803|REF_RGD_ID:2290536 11772827 TP53 tumor protein p53 gene DOID:1107 esophageal carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:10229196|PMID:10411893|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25294809|PMID:2531845|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634208|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993 11772827 TP53 tumor protein p53 gene DOID:1107 esophageal carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28271309|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33635883|PMID:33758026|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9667734|PMID:9825943|PMID:9839505|PMID:9979965 11772827 TP53 tumor protein p53 gene DOID:1115 sarcoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:10411893|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:12826609|PMID:15004724|PMID:15381368|PMID:1565143|PMID:15722483|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17606709|PMID:18511570|PMID:19556618|PMID:1978757|PMID:20113312|PMID:20128691|PMID:20407015|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24641375|PMID:24651012|PMID:24810334|PMID:25157968|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26822237|PMID:26845104|PMID:27146902|PMID:27276561|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28492532|PMID:28664506|PMID:28861920|PMID:29300620|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31321604|PMID:31775759|PMID:32000721|PMID:33372952|PMID:33471991|PMID:36988593|PMID:7887414|PMID:8062826|PMID:9242456|PMID:9546439|PMID:9569050 11772827 TP53 tumor protein p53 gene DOID:1115 sarcoma onset ISO RGD:3889 D RGD:9068941 20200609 RGD PMID:21854749|REF_RGD_ID:11075090 11772827 TP53 tumor protein p53 gene DOID:1115 sarcoma treatment ISO RGD:70502 D RGD:9068941 20220303 RGD PMID:31089155|REF_RGD_ID:151660332 11772827 TP53 tumor protein p53 gene DOID:11198 DiGeorge syndrome ISO RGD:1317101 D RGD:9068941 20221103 RGD PMID:25197075|REF_RGD_ID:155641238 11772827 TP53 tumor protein p53 gene DOID:1123 spondyloarthropathy ISO RGD:1615620 D RGD:9068941 20200609 RGD PMID:29494633|REF_RGD_ID:14995936 11772827 TP53 tumor protein p53 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:3889 D RGD:9068941 20200609 RGD PMID:26431790|REF_RGD_ID:11537057 11772827 TP53 tumor protein p53 gene DOID:11934 head and neck cancer ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Head and neck neoplasm PMID:20522432|PMID:23255406|PMID:24382691|PMID:25157968|PMID:25741868|PMID:26225655|PMID:27726232|PMID:28492532|PMID:28873162|PMID:30107858|PMID:31775759|PMID:36988593|PMID:9067756 11772827 TP53 tumor protein p53 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22000973 11772827 TP53 tumor protein p53 gene DOID:12177 common variable immunodeficiency ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11772827 TP53 tumor protein p53 gene DOID:12336 male infertility ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22773013 11772827 TP53 tumor protein p53 gene DOID:12361 Graves' disease susceptibility ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.p.R72P(human) PMID:17980001|REF_RGD_ID:8547807 11772827 TP53 tumor protein p53 gene DOID:1240 leukemia disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow: PMID:26524016|REF_RGD_ID:11073730 11772827 TP53 tumor protein p53 gene DOID:12450 pancytopenia ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pancytopenia PMID:11051239|PMID:11782540|PMID:12826609|PMID:1631137|PMID:16489069|PMID:16818505|PMID:17417627|PMID:17427234|PMID:17606709|PMID:19378321|PMID:1978757|PMID:20013323|PMID:20128691|PMID:20407015|PMID:20522432|PMID:21059199|PMID:21343334|PMID:21519010|PMID:21601526|PMID:22186996|PMID:22265402|PMID:22713868|PMID:22915647|PMID:23172776|PMID:23246812|PMID:23667202|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24573247|PMID:24603336|PMID:24651015|PMID:25157968|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26787237|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28472496|PMID:28492532|PMID:28724667|PMID:29025599|PMID:29979965|PMID:30224644|PMID:30327374|PMID:31775759|PMID:36988593|PMID:8099841|PMID:8425176|PMID:8527048|PMID:9242456|PMID:9598730|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:12930 dilated cardiomyopathy ISO RGD:3889 D RGD:9068941 20200609 RGD PMID:26004897|REF_RGD_ID:13782348 11772827 TP53 tumor protein p53 gene DOID:1324 lung cancer ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic PMID:10432928|PMID:10519380|PMID:10589545|PMID:10922393|PMID:11370630|PMID:11429705|PMID:11593407|PMID:11782540|PMID:11793474|PMID:12124823|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15037740|PMID:15138567|PMID:1565143|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16312222|PMID:16401470|PMID:16494995|PMID:16551709|PMID:16778209|PMID:16818505|PMID:16827139|PMID:16861262|PMID:17015838|PMID:17311302|PMID:17606709|PMID:17724467|PMID:17875924|PMID:18307025|PMID:18511570|PMID:18555592|PMID:19101993|PMID:19556618|PMID:19850740|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20522432|PMID:20805372|PMID:21113594|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22198284|PMID:22319594|PMID:22427690|PMID:22710932|PMID:22915647|PMID:22923379|PMID:22983585|PMID:23165212|PMID:23175693|PMID:23246812|PMID:23265383|PMID:23538418|PMID:23630318|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24641375|PMID:24651015|PMID:24702488|PMID:24835218|PMID:25157968|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26070072|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26723900|PMID:26786923|PMID:27276561|PMID:27463065|PMID:27523101|PMID:27621308|PMID:27680515|PMID:27714481|PMID:27895058|PMID:27959731|PMID:28492532|PMID:29070607|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30630526|PMID:30730202|PMID:30816478|PMID:32000721|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:8023157|PMID:8118819|PMID:8550239|PMID:8718514|PMID:9096669|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9635828|PMID:9662334|PMID:9667734 11772827 TP53 tumor protein p53 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:25741868|PMID:28492532|PMID:30146126 11772827 TP53 tumor protein p53 gene DOID:1350 paranasal sinus benign neoplasm ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:22575263|REF_RGD_ID:8547763 11772827 TP53 tumor protein p53 gene DOID:1350 paranasal sinus benign neoplasm treatment ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:23369851|REF_RGD_ID:8547764 11772827 TP53 tumor protein p53 gene DOID:13544 low tension glaucoma susceptibility ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R72P(rs1042522)(human) PMID:20357201|REF_RGD_ID:7387247 11772827 TP53 tumor protein p53 gene DOID:13677 SAPHO syndrome ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19779722 11772827 TP53 tumor protein p53 gene DOID:1380 endometrial cancer ISO RGD:11440 D RGD:9068941 20220825 MouseDO OMIM:608089 11772827 TP53 tumor protein p53 gene DOID:14566 disease of cellular proliferation ISO RGD:70502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neoplasms PMID:10411893|PMID:10519380|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11315715|PMID:11370630|PMID:11479205|PMID:11494139|PMID:11782540|PMID:11793474|PMID:11896595|PMID:12007217|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17015838|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18391940|PMID:18511570|PMID:19127115|PMID:19378321|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20516128|PMID:20522432|PMID:20689556|PMID:20693561|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23263379|PMID:23265383|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31775759|PMID:32000721|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:7969167|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9667734|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:14566 disease of cellular proliferation ISO RGD:70502 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neoplasms PMID:10411893|PMID:10519380|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11315715|PMID:11370630|PMID:11479205|PMID:11494139|PMID:11782540|PMID:11793474|PMID:11896595|PMID:12007217|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17015838|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18391940|PMID:18511570|PMID:19127115|PMID:19378321|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20689556|PMID:20693561|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23263379|PMID:23265383|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31775759|PMID:32000721|PMID:33372952|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:7969167|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9667734|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:14566 disease of cellular proliferation ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neoplasms PMID:10411893|PMID:10519380|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11315715|PMID:11370630|PMID:11479205|PMID:11494139|PMID:11782540|PMID:11793474|PMID:11896595|PMID:12007217|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17015838|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19127115|PMID:19378321|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20689556|PMID:20693561|PMID:21059199|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23263379|PMID:23265383|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31559875|PMID:31775759|PMID:31882575|PMID:32000721|PMID:33372952|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:7969167|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9667734|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:14566 disease of cellular proliferation onset ISO RGD:3889 D RGD:9068941 20200609 RGD PMID:22917926|REF_RGD_ID:11075077 11772827 TP53 tumor protein p53 gene DOID:1520 colon carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:10411893|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:11920959|PMID:12826609|PMID:15004724|PMID:15381368|PMID:1565143|PMID:15722483|PMID:15825182|PMID:16489069|PMID:16596195|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17311302|PMID:17606709|PMID:18511570|PMID:19556618|PMID:1978757|PMID:20113312|PMID:20128691|PMID:20407015|PMID:21187651|PMID:21288114|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21747090|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22915647|PMID:22919068|PMID:23161690|PMID:23246812|PMID:23538418|PMID:23894400|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24641375|PMID:24651012|PMID:24810334|PMID:24952744|PMID:25157968|PMID:25525159|PMID:25741868|PMID:25896519|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27463065|PMID:27493922|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28234344|PMID:28369373|PMID:28492532|PMID:29056573|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31775759|PMID:32000721|PMID:33372952|PMID:36988593|PMID:7887414|PMID:8062826|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050 11772827 TP53 tumor protein p53 gene DOID:161 keratosis ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16930632|PMID:28785074 11772827 TP53 tumor protein p53 gene DOID:1612 breast cancer ISO RGD:70502 D RGD:7240710 20180711 OMIM 11772827 TP53 tumor protein p53 gene DOID:1612 breast cancer ISO RGD:70502 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10408787|PMID:10435620|PMID:10606817|PMID:10713666|PMID:10864200|PMID:10922393|PMID:11040944|PMID:11222779|PMID:11391594|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920959|PMID:12170762|PMID:12610779|PMID:12672316|PMID:12726864|PMID:12759621|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1394133|PMID:14612556|PMID:14639659|PMID:15161705|PMID:15173255|PMID:15192123|PMID:1537617|PMID:15390294|PMID:15541116|PMID:15580553|PMID:1562462|PMID:1565144|PMID:15659650|PMID:15756275|PMID:15851479|PMID:15951970|PMID:15964795|PMID:15982667|PMID:16229746|PMID:16401470|PMID:16489069|PMID:16596195|PMID:16644204|PMID:1673792|PMID:16818505|PMID:16861262|PMID:1686725|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17311302|PMID:17436385|PMID:17540308|PMID:17541742|PMID:17606709|PMID:17636407|PMID:17727479|PMID:18199664|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19367569|PMID:19416725|PMID:19523860|PMID:19671856|PMID:19714488|PMID:19913028|PMID:19933256|PMID:20118236|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20443084|PMID:20449797|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20972454|PMID:21153778|PMID:21232794|PMID:21288114|PMID:21343334|PMID:21484931|PMID:21512767|PMID:21519010|PMID:21552135|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22186996|PMID:22228431|PMID:22356895|PMID:22652532|PMID:22710932|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23469205|PMID:23484829|PMID:23580068|PMID:23625637|PMID:23894400|PMID:24033266|PMID:24076587|PMID:24113472|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24590827|PMID:24641375|PMID:24677579|PMID:24728327|PMID:24729566|PMID:24803582|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24952744|PMID:25034526|PMID:25157968|PMID:25169539|PMID:25339039|PMID:25365311|PMID:25503501|PMID:25527155|PMID:25564201|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26976419|PMID:27034505|PMID:27210295|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27484708|PMID:27680515|PMID:27895058|PMID:27959731|PMID:27978560|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28202063|PMID:28234344|PMID:28453743|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28772286|PMID:28843361|PMID:28861920|PMID:28873162|PMID:29056573|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29489754|PMID:29844874|PMID:29875428|PMID:29945567|PMID:29979965|PMID:30224644|PMID:30240537|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30675318|PMID:30709875|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31159747|PMID:31278746|PMID:31296311|PMID:31422574|PMID:31749828|PMID:32000721|PMID:32504211|PMID:32566746|PMID:32885271|PMID:33051313|PMID:33178583|PMID:33257846|PMID:33372952|PMID:33471991|PMID:33580201|PMID:7732013|PMID:7881428|PMID:8198984|PMID:8203469|PMID:8352280|PMID:8364550|PMID:8423216|PMID:8633021|PMID:8710380|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9667734|PMID:9865903 11772827 TP53 tumor protein p53 gene DOID:1612 breast cancer ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10408787|PMID:10435620|PMID:10606817|PMID:10713666|PMID:10864200|PMID:10922393|PMID:11040944|PMID:11222779|PMID:11391594|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920959|PMID:12170762|PMID:12610779|PMID:12672316|PMID:12726864|PMID:12759621|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1394133|PMID:14612556|PMID:14639659|PMID:15161705|PMID:15173255|PMID:1537617|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:1562462|PMID:1565144|PMID:15659650|PMID:15756275|PMID:15851479|PMID:15951970|PMID:15964795|PMID:15982667|PMID:16229746|PMID:16401470|PMID:16489069|PMID:16596195|PMID:16644204|PMID:1673792|PMID:16818505|PMID:16861262|PMID:1686725|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17311302|PMID:17436385|PMID:17540308|PMID:17541742|PMID:17606709|PMID:17636407|PMID:17727479|PMID:18199664|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19367569|PMID:19416725|PMID:19523860|PMID:19671856|PMID:19714488|PMID:19913028|PMID:19933256|PMID:20118236|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20443084|PMID:20449797|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20972454|PMID:21153778|PMID:21232794|PMID:21288114|PMID:21343334|PMID:21484931|PMID:21512767|PMID:21519010|PMID:21552135|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22186996|PMID:22228431|PMID:22356895|PMID:22652532|PMID:22710932|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23469205|PMID:23484829|PMID:23580068|PMID:23625637|PMID:23894400|PMID:24033266|PMID:24076587|PMID:24113472|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24590827|PMID:24641375|PMID:24677579|PMID:24728327|PMID:24729566|PMID:24803582|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24952744|PMID:25034526|PMID:25157968|PMID:25169539|PMID:25339039|PMID:25365311|PMID:25503501|PMID:25527155|PMID:25564201|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26976419|PMID:27034505|PMID:27210295|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27484708|PMID:27680515|PMID:27895058|PMID:27959731|PMID:27978560|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28202063|PMID:28234344|PMID:28453743|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28772286|PMID:28843361|PMID:28861920|PMID:28873162|PMID:29056573|PMID:29077256|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29489754|PMID:29752822|PMID:29844874|PMID:29875428|PMID:29945567|PMID:29979965|PMID:30224644|PMID:30240537|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709875|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31159747|PMID:31278746|PMID:31296311|PMID:31422574|PMID:31749828|PMID:31882575|PMID:32000721|PMID:32504211|PMID:32566746|PMID:32885271|PMID:33051313|PMID:33178583|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33580201|PMID:35050731|PMID:7732013|PMID:7881428|PMID:8198984|PMID:8203469|PMID:8352280|PMID:8364550|PMID:8423216|PMID:8710380|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9667734|PMID:9865903 11772827 TP53 tumor protein p53 gene DOID:1612 breast cancer ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10408787|PMID:10435620|PMID:10606817|PMID:10713666|PMID:10864200|PMID:10922393|PMID:11040944|PMID:11222779|PMID:11391594|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920959|PMID:12170762|PMID:12610779|PMID:12672316|PMID:12726864|PMID:12759621|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1394133|PMID:14612556|PMID:14639659|PMID:15161705|PMID:15173255|PMID:1537617|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:1562462|PMID:1565144|PMID:15659650|PMID:15756275|PMID:15851479|PMID:15951970|PMID:15964795|PMID:15982667|PMID:16229746|PMID:16401470|PMID:16489069|PMID:16596195|PMID:16644204|PMID:1673792|PMID:16818505|PMID:16861262|PMID:1686725|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17311302|PMID:17436385|PMID:17540308|PMID:17541742|PMID:17606709|PMID:17636407|PMID:17727479|PMID:18199664|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19367569|PMID:19416725|PMID:19523860|PMID:19671856|PMID:19714488|PMID:19913028|PMID:19933256|PMID:20118236|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20443084|PMID:20449797|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20972454|PMID:21153778|PMID:21232794|PMID:21288114|PMID:21343334|PMID:21484931|PMID:21512767|PMID:21519010|PMID:21552135|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22186996|PMID:22228431|PMID:22356895|PMID:22652532|PMID:22710932|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23469205|PMID:23484829|PMID:23580068|PMID:23625637|PMID:23894400|PMID:24033266|PMID:24076587|PMID:24113472|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24590827|PMID:24641375|PMID:24677579|PMID:24728327|PMID:24729566|PMID:24803582|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24952744|PMID:25034526|PMID:25157968|PMID:25169539|PMID:25339039|PMID:25365311|PMID:25503501|PMID:25527155|PMID:25564201|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26976419|PMID:27034505|PMID:27210295|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27484708|PMID:27680515|PMID:27895058|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28202063|PMID:28234344|PMID:28453743|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28772286|PMID:28843361|PMID:28861920|PMID:28873162|PMID:29056573|PMID:29077256|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29489754|PMID:29752822|PMID:29844874|PMID:29875428|PMID:29945567|PMID:29979965|PMID:30224644|PMID:30240537|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709875|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31159747|PMID:31278746|PMID:31296311|PMID:31422574|PMID:31749828|PMID:31882575|PMID:32000721|PMID:32318955|PMID:32504211|PMID:32566746|PMID:32885271|PMID:33051313|PMID:33178583|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33471991|PMID:33580201|PMID:35050731|PMID:36988593|PMID:7732013|PMID:7881428|PMID:8198984|PMID:8203469|PMID:8352280|PMID:8364550|PMID:8423216|PMID:8710380|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9667734|PMID:9865903 11772827 TP53 tumor protein p53 gene DOID:1749 squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:10557074|PMID:10713666|PMID:10754498|PMID:11590071|PMID:11793474|PMID:12779080|PMID:12826609|PMID:15037740|PMID:15077194|PMID:15161705|PMID:15308588|PMID:15564800|PMID:1672732|PMID:16778209|PMID:16861262|PMID:18555592|PMID:21561095|PMID:25741868|PMID:26580448|PMID:26619011|PMID:27993330|PMID:28492532|PMID:29070607|PMID:29785153|PMID:29979965|PMID:30224644|PMID:30720243|PMID:30840781|PMID:31159747|PMID:32899294|PMID:9472631|PMID:9572492 11772827 TP53 tumor protein p53 gene DOID:1790 malignant mesothelioma ISO RGD:70502 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 11772827 TP53 tumor protein p53 gene DOID:1793 pancreatic cancer ISO RGD:11440 D RGD:9068941 20230506 CTD CTD Direct Evidence: marker/mechanism PMID:23873029|PMID:26390243 11772827 TP53 tumor protein p53 gene DOID:1793 pancreatic cancer ISO RGD:70502 D RGD:9068941 20230506 RGD DNA:mutations:exon PMID:18772397|REF_RGD_ID:5490966 11772827 TP53 tumor protein p53 gene DOID:1793 pancreatic cancer ISO RGD:70502 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 11772827 TP53 tumor protein p53 gene DOID:182 calcinosis ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29358327 11772827 TP53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:10064694|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19462533|PMID:19468865|PMID:19556618|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:2113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22540896|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22844452|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23315175|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24395441|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24766216|PMID:24810334|PMID:25123297|PMID:25157968|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27911860|PMID:27959731|PMID:28135145|PMID:28152038|PMID:2826609|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053 11772827 TP53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30297838|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31775759|PMID:32000721|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19468865|PMID:19556618|PMID:1978757|PMID:19834951|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23315175|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24395441|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25123297|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27523101|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29126202|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243 11772827 TP53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31775759|PMID:32000721|PMID:32475984|PMID:33372952|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19468865|PMID:19556618|PMID:1978757|PMID:19834951|PMID:19913028|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27523101|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350 11772827 TP53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32475984|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33372952|PMID:33758026|PMID:34026625|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:10064694|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27911860|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053 11772827 TP53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33332384|PMID:33372952|PMID:33758026|PMID:34026625|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:10064694|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27911860|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532 11772827 TP53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33332384|PMID:33372952|PMID:33758026|PMID:34026625|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant Melanoma Susceptibility | ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10064694|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496 11772827 TP53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant Melanoma Susceptibility | ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34026625|PMID:34805717|PMID:35938033|PMID:36988593|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:1936 atherosclerosis ameliorates ISO RGD:11440 D RGD:9068941 20230330 RGD PMID:31757932|REF_RGD_ID:242905202 11772827 TP53 tumor protein p53 gene DOID:2129 atypical teratoid rhabdoid tumor ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor PMID:10519380|PMID:10922393|PMID:11370630|PMID:11782540|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1565143|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:16401470|PMID:16494995|PMID:16551709|PMID:16818505|PMID:17015838|PMID:17311302|PMID:17606709|PMID:18511570|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:21343334|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22915647|PMID:23246812|PMID:23538418|PMID:24033266|PMID:24122735|PMID:24835218|PMID:25157968|PMID:25741868|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26585234|PMID:26619011|PMID:26786923|PMID:27276561|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28492532|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30816478|PMID:32000721|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:8550239|PMID:8718514|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9667734 11772827 TP53 tumor protein p53 gene DOID:2154 nephroblastoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 11772827 TP53 tumor protein p53 gene DOID:2316 brain ischemia ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19095966 11772827 TP53 tumor protein p53 gene DOID:2394 ovarian cancer ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer PMID:10435620|PMID:10519380|PMID:10922393|PMID:11370630|PMID:11782540|PMID:11793474|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1565143|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:16401470|PMID:16437140|PMID:16494995|PMID:16551709|PMID:16818505|PMID:17015838|PMID:17311302|PMID:17541742|PMID:17606709|PMID:18511570|PMID:18555592|PMID:19468865|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:21343334|PMID:21519010|PMID:21601526|PMID:21761402|PMID:22186996|PMID:22811390|PMID:22915647|PMID:23246812|PMID:23538418|PMID:24033266|PMID:24076587|PMID:24122735|PMID:24835218|PMID:25157968|PMID:25637381|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26086041|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26786923|PMID:27276561|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28369373|PMID:28472496|PMID:28492532|PMID:29070607|PMID:29300620|PMID:29365323|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:32000721|PMID:33300245|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:8550239|PMID:8718514|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9572492|PMID:9667734 11772827 TP53 tumor protein p53 gene DOID:2513 basal cell carcinoma ISO RGD:70502 D RGD:7240710 20180130 OMIM 11772827 TP53 tumor protein p53 gene DOID:2513 basal cell carcinoma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7 PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:21946351|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22729912|PMID:22744426|PMID:22800615|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23515929|PMID:23538418|PMID:23571737|PMID:23624782|PMID:23630318|PMID:23742673|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25422255|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25907361|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26823150|PMID:26845104|PMID:26911350|PMID:27147571|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:33372952|PMID:34299313|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 11772827 TP53 tumor protein p53 gene DOID:2513 basal cell carcinoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7 PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:21946351|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22729912|PMID:22744426|PMID:22800615|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23515929|PMID:23538418|PMID:23571737|PMID:23624782|PMID:23630318|PMID:23742673|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25422255|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25907361|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26823150|PMID:26845104|PMID:26911350|PMID:27147571|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:33372952|PMID:34299313|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 11772827 TP53 tumor protein p53 gene DOID:2513 basal cell carcinoma ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7 PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:21946351|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22729912|PMID:22744426|PMID:22800615|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23515929|PMID:23538418|PMID:23571737|PMID:23624782|PMID:23630318|PMID:23742673|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25422255|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25907361|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26823150|PMID:26845104|PMID:26911350|PMID:27147571|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:33372952|PMID:34299313|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 11772827 TP53 tumor protein p53 gene DOID:2513 basal cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7 PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:21946351|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22729912|PMID:22744426|PMID:22800615|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23515929|PMID:23538418|PMID:23571737|PMID:23624782|PMID:23630318|PMID:23742673|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25422255|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25907361|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26823150|PMID:26845104|PMID:26911350|PMID:27147571|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:33372952|PMID:34299313|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 11772827 TP53 tumor protein p53 gene DOID:2526 prostate adenocarcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate | ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16736287|PMID:16741917|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17541742|PMID:17606709|PMID:17636407|PMID:17724467|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:19012332|PMID:19101993|PMID:19171880|PMID:1918170|PMID:19367569|PMID:19378321|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22110706|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23406775|PMID:23538418|PMID:23612969|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24256616|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25339994|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25619955|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27077130|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30630526|PMID:30675318|PMID:30720243|PMID:30816478 11772827 TP53 tumor protein p53 gene DOID:2526 prostate adenocarcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate | ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:30840781|PMID:31050713|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32817165|PMID:32885271|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7750099|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:2531 hematologic cancer ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:missense mutation::p.R337H (human) PMID:28387921|REF_RGD_ID:14995484 11772827 TP53 tumor protein p53 gene DOID:2626 choroid plexus papilloma ISO RGD:70502 D RGD:7240710 20180130 OMIM 11772827 TP53 tumor protein p53 gene DOID:2626 choroid plexus papilloma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Choroid plexus papilloma | ClinVar Annotator: match by term: Papilloma of choroid plexus PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12085209|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:33372952|PMID:34299313|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 11772827 TP53 tumor protein p53 gene DOID:2671 transitional cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:10064694|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16736287|PMID:1673792|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19147582|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22484423|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23334668|PMID:23406775|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25339994|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27276561|PMID:27276934 11772827 TP53 tumor protein p53 gene DOID:2671 transitional cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9096669|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9839505 11772827 TP53 tumor protein p53 gene DOID:2729 dyskeratosis congenita ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:17683073|PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:24033266|PMID:25741868|PMID:28492532 11772827 TP53 tumor protein p53 gene DOID:2870 endometrial adenocarcinoma ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:missense mutations PMID:1540970|REF_RGD_ID:2290541 11772827 TP53 tumor protein p53 gene DOID:2870 endometrial adenocarcinoma disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:1540970|REF_RGD_ID:2290541 11772827 TP53 tumor protein p53 gene DOID:2871 endometrial carcinoma ISO RGD:70502 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:25741868|PMID:28492532 11772827 TP53 tumor protein p53 gene DOID:2871 endometrial carcinoma severity ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:epithelial cell, endometrium PMID:18431720|REF_RGD_ID:2298525 11772827 TP53 tumor protein p53 gene DOID:299 adenocarcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma PMID:10519380|PMID:10922393|PMID:11370630|PMID:11782540|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1565143|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:16401470|PMID:16494995|PMID:16551709|PMID:16818505|PMID:17015838|PMID:17311302|PMID:17606709|PMID:18511570|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:21343334|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22915647|PMID:23246812|PMID:23538418|PMID:24033266|PMID:24122735|PMID:24835218|PMID:25157968|PMID:25741868|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26585234|PMID:26619011|PMID:26786923|PMID:27276561|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28492532|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30816478|PMID:32000721|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:8550239|PMID:8718514|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9667734 11772827 TP53 tumor protein p53 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni PMID:10064694|PMID:10206274|PMID:10207667|PMID:10229196|PMID:10329187|PMID:10366100|PMID:10389749|PMID:10408787|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10449408|PMID:10477429|PMID:10486243|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10606817|PMID:10616528|PMID:10653977|PMID:10654936|PMID:10697617|PMID:10706125|PMID:10713666|PMID:10719737|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10777217|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10854221|PMID:10864200|PMID:10871862|PMID:10901165|PMID:10914716|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11040944|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11124955|PMID:11139324|PMID:11152481|PMID:11161397|PMID:11180592|PMID:11222779|PMID:11229518|PMID:11263856|PMID:11285227|PMID:11313981|PMID:11315715|PMID:11332399|PMID:11358831|PMID:11359905|PMID:11370630|PMID:11391594|PMID:11403041|PMID:11420676|PMID:11423991|PMID:11429700|PMID:11429705|PMID:11453810|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11518751|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668476|PMID:11668501|PMID:11715068|PMID:11753428|PMID:11756653|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12034820|PMID:12067251|PMID:12070601|PMID:12076704|PMID:12124823|PMID:12170762|PMID:12209975|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12610779|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12716906|PMID:12726864|PMID:12759621|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:1394133|PMID:14559903|PMID:14584079|PMID:14587098|PMID:14612556|PMID:14639659|PMID:14656244|PMID:14670539|PMID:14673037|PMID:1467311|PMID:14965603|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15060172|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15173255|PMID:15221755|PMID:15308588|PMID:15342977|PMID:15355915|PMID:1537617|PMID:15381368|PMID:15390294|PMID:15469940|PMID:15489903|PMID:15541116|PMID:15548685|PMID:15564800|PMID:15580553|PMID:1559227|PMID:15607980|PMID:15607981|PMID:15611070|PMID:15611505|PMID:1562462|PMID:15630097|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15703170|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15781632|PMID:15784129|PMID:1581912|PMID:15825182|PMID:15850016|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16204849|PMID:16209708|PMID:16229746|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16333835|PMID:16337994|PMID:16401470|PMID:16437140|PMID:1644930|PMID:16461914|PMID:16474844|PMID:16477330|PMID:16487937|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16522644|PMID:16534790|PMID:16543939|PMID:16551709|PMID:16596195|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16687402|PMID:16707427|PMID:16723121|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16818665|PMID:16821082|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16907706|PMID:16941491|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17133269|PMID:17170001|PMID:17224074|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17401432|PMID:17417627|PMID:17417775|PMID:17427234|PMID:17436385|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17704262|PMID:17724467|PMID:17727479|PMID:17875924|PMID:17903248|PMID:17947339|PMID:17982662|PMID:18037961|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18307025 11772827 TP53 tumor protein p53 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni PMID:18348285|PMID:18348286|PMID:18391940|PMID:18393224|PMID:18413811|PMID:18453682|PMID:18477611|PMID:18489080|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18563462|PMID:18575712|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18762572|PMID:18798306|PMID:18818522|PMID:18843282|PMID:18923929|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19160491|PMID:19165225|PMID:19171880|PMID:1918170|PMID:19224462|PMID:19250386|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19558493|PMID:19558684|PMID:19671856|PMID:19681600|PMID:19701813|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:19759556|PMID:19763152|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:19958544|PMID:1999338|PMID:20010306|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20028212|PMID:20030809|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20234365|PMID:20301488|PMID:20307669|PMID:20308654|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20426520|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056402|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21153778|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21339461|PMID:21343334|PMID:2134334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21488255|PMID:21512767|PMID:21514416|PMID:21519010|PMID:21520333|PMID:21522129|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21878961|PMID:21900752|PMID:21904608|PMID:21934104|PMID:21953469|PMID:22006311|PMID:22046250|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22267198|PMID:22319594|PMID:22354696|PMID:22356895|PMID:22373952|PMID:22387016|PMID:22406018|PMID:22427690|PMID:22484423|PMID:22495821|PMID:22507745|PMID:22540896|PMID:22551440|PMID:22553421|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22811390|PMID:22829111|PMID:22862161|PMID:22866089|PMID:22877736|PMID:22878818|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22923433|PMID:22949826|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23406775|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23580068|PMID:23612572|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23639785|PMID:23665223|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828 11772827 TP53 tumor protein p53 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni PMID:23733769|PMID:23792586|PMID:23863845|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23967324|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24171036|PMID:24198462|PMID:24218030|PMID:24219989|PMID:24224046|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24373500|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24448499|PMID:24451277|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24733378|PMID:24744791|PMID:24763289|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24835218|PMID:24835311|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:24940547|PMID:24952744|PMID:25034526|PMID:25047674|PMID:25056374|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25149524|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256751|PMID:25293557|PMID:25294809|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25318593|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25365311|PMID:25374282|PMID:25428789|PMID:25433984|PMID:25452441|PMID:25460562|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25504633|PMID:25512523|PMID:25516983|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25544776|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25634208|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25730903|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25762628|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25877891|PMID:25881545|PMID:25886176|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26029016|PMID:26066407|PMID:26070072|PMID:26086041|PMID:26094658|PMID:26181206|PMID:26200271|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26527317|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26659639|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26723900|PMID:26743472|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26837699|PMID:26845104|PMID:26851285|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27149858|PMID:27153395|PMID:27157322|PMID:27179933|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27276561|PMID:27276934|PMID:27297285|PMID:27328919|PMID:27341992|PMID:27374712|PMID:27391063|PMID:27418648|PMID:27443514|PMID:27443517|PMID:27449771|PMID:27458004|PMID:27463065|PMID:27484708|PMID:27489289|PMID:27493922|PMID:27496084|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27545002|PMID:27553368|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27642012|PMID:27657329|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27730344|PMID:27741277|PMID:27785980|PMID:27834926|PMID:27844328|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27930734|PMID:27959731|PMID:27978560|PMID:27993330|PMID:2802540|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28202063|PMID:28222664|PMID:28230820|PMID:28234344|PMID:28255015|PMID:2826609|PMID:28271309|PMID:28279309|PMID:28288110 11772827 TP53 tumor protein p53 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373|PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477316|PMID:28477317|PMID:28484276|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28772286|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28826481|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28961258|PMID:28961279|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29059199|PMID:29069792|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29189820|PMID:29225734|PMID:29247016|PMID:29263802|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29392648|PMID:29456621|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29625052|PMID:29652801|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29769598|PMID:29770616|PMID:29774081|PMID:29785153|PMID:29805046|PMID:29844874|PMID:29847298|PMID:29875428|PMID:29936259|PMID:29945567|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30057026|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30093976|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30152528|PMID:30154229|PMID:30181807|PMID:30190792|PMID:30212483|PMID:30216591|PMID:3022464|PMID:30224644|PMID:30239254|PMID:30240537|PMID:30262806|PMID:30267214|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30348990|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30546832|PMID:30583724|PMID:30588330|PMID:30607672|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30828720|PMID:30840781|PMID:30883245|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31159747|PMID:31206626|PMID:31212162|PMID:31265190|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31365877|PMID:31422574|PMID:31462179|PMID:31494577|PMID:31559875|PMID:31567591|PMID:31666926|PMID:31742824|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32029870|PMID:32164171|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32371905|PMID:32401780|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32554555|PMID:32555031|PMID:32566746|PMID:32658311|PMID:32658383|PMID:32675277|PMID:32722340|PMID:32817165|PMID:32854451|PMID:32885271|PMID:32899294|PMID:32916163|PMID:32930885|PMID:32994724|PMID:33047316|PMID:33051313|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33230179|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33436392|PMID:33471991|PMID:33504652|PMID:33580201|PMID:33635883|PMID:33758026|PMID:33818021|PMID:34026625|PMID:34198491|PMID:34240179|PMID:34264394|PMID:34299313|PMID:34308366|PMID:34390506|PMID:34452612|PMID:34504096|PMID:34529667|PMID:34539758|PMID:3471991|PMID:34739844|PMID:34805717|PMID:34906512|PMID:34994652|PMID:35050731|PMID:35886069|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7599045|PMID:7651740|PMID:7664239|PMID:7669577|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7731702|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7887414|PMID:7936651|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8302608|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8352280 11772827 TP53 tumor protein p53 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni PMID:8364550|PMID:8378080|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479743|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8649785|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8756654|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9367778|PMID:9399658|PMID:9405613|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9467949|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9723024|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9839505|PMID:9865903|PMID:9891044|PMID:9979965 11772827 TP53 tumor protein p53 gene DOID:3021 acute kidney failure ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20603111 11772827 TP53 tumor protein p53 gene DOID:305 carcinoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17450239|PMID:9626339 11772827 TP53 tumor protein p53 gene DOID:3052 Balkan nephropathy ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22071594 11772827 TP53 tumor protein p53 gene DOID:3068 glioblastoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, somatic PMID:10064694|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10761705|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:16199549|PMID:16209708|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18391940|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19147582|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19681600|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19850740|PMID:19881536|PMID:19913028|PMID:19930417|PMID:1999338|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20364130|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20589832|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665182|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22710932|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23612969|PMID:23624782|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23887774|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25516983|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25634208|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356 11772827 TP53 tumor protein p53 gene DOID:3068 glioblastoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, somatic PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26681312|PMID:26718964|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27153395|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27374712|PMID:27463065|PMID:27493922|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31494577|PMID:31742824|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32475984|PMID:32658383|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33332384|PMID:33372952|PMID:33471991|PMID:34026625|PMID:34299313|PMID:34308366|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7783166|PMID:7791795|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8336941|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9839505|PMID:9891044 11772827 TP53 tumor protein p53 gene DOID:3069 malignant astrocytoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant astrocytoma PMID:10519380|PMID:10922393|PMID:11370630|PMID:11782540|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:16401470|PMID:16494995|PMID:16551709|PMID:16818505|PMID:17015838|PMID:17311302|PMID:17606709|PMID:18511570|PMID:19012332|PMID:19468865|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:21059199|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22672556|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24033266|PMID:24122735|PMID:24573247|PMID:24835218|PMID:25157968|PMID:25186627|PMID:25584008|PMID:25619955|PMID:25741868|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26585234|PMID:26619011|PMID:26786923|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27077130|PMID:27276561|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28975465|PMID:29581140|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30816478|PMID:32000721|PMID:32475984|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:8401536|PMID:8550239|PMID:8718514|PMID:8829627|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9667734 11772827 TP53 tumor protein p53 gene DOID:3069 malignant astrocytoma susceptibility ISO RGD:1550157 D RGD:9068941 20200609 RGD DNA:nonsense mutation:cds: PMID:24038521|REF_RGD_ID:13702858 11772827 TP53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:7240710 20230505 OMIM 11772827 TP53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:10229196|PMID:10411893|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11358831|PMID:11370630|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11715068|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:14559903|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15173255|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:1581912|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16000567|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20471942|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20689556|PMID:20693561|PMID:21056685|PMID:21059199|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:2259385|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23406775|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24729566|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25123297|PMID:25157968|PMID:25339994|PMID:25460562|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26200271|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26743472|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27149858|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27533082|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28152038|PMID:2826609|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28476805|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30297838|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31300551|PMID:31775759|PMID:32000721|PMID:32295079|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8242631|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8756654|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9472631 11772827 TP53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9667734|PMID:9681828|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Malignant glioma PMID:10229196|PMID:10411893|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11358831|PMID:11370630|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11715068|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15173255|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16000567|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17576681|PMID:17606709|PMID:17636407|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20689556|PMID:20693561|PMID:21056685|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22484423|PMID:2259385|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24729566|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25123297|PMID:25157968|PMID:25339994|PMID:25460562|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26200271|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26743472|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27149858|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31300551|PMID:31775759|PMID:32000721|PMID:32295079|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8242631|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9667734|PMID:9681828|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:10229196|PMID:10411893|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11358831|PMID:11370630|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11715068|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15173255|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16000567|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17576681|PMID:17606709|PMID:17636407|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20689556|PMID:20693561|PMID:21056685|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22484423|PMID:2259385|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24224046|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24665023|PMID:24677579|PMID:24729566|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25123297|PMID:25157968|PMID:25339994|PMID:25460562|PMID:25503501|PMID:25525159|PMID:25533637|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26200271|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26743472|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27149858|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31300551|PMID:31775759|PMID:32000721|PMID:32295079|PMID:33372952|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8242631|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9667734|PMID:9681828 11772827 TP53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9 PMID:10229196|PMID:10411893|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11358831|PMID:11370630|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11715068|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15173255|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16000567|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17576681|PMID:17606709|PMID:17636407|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:21056685|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22484423|PMID:2259385|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24224046|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24665023|PMID:24677579|PMID:24729566|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25157968|PMID:25339994|PMID:25460562|PMID:25503501|PMID:25525159|PMID:25533637|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26200271|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26743472|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27149858|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8242631|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015 11772827 TP53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9 PMID:9407971|PMID:9446663|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9667734|PMID:9681828|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3 PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11358831|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11715068|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15173255|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16000567|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19101993|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22484423|PMID:2259385|PMID:22698404|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23887774|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24224046|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25157968|PMID:25339994|PMID:25460562|PMID:25503501|PMID:25516983|PMID:25525159|PMID:25533637|PMID:25584008|PMID:25612911|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26200271|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26743472|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27149858|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30327374 11772827 TP53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3 PMID:30352134|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31300551|PMID:31742824|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32658383|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:34299313|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9825943|PMID:9891044 11772827 TP53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:28975465|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31300551|PMID:31742824|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:34299313|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8756654|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9825943|PMID:9891044 11772827 TP53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11358831|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11715068|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:14559903|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15173255|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16000567|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19101993|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20471942|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21059199|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22484423|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23887774|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24224046|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25157968|PMID:25339994|PMID:25460562|PMID:25503501|PMID:25516983|PMID:25525159|PMID:25533637|PMID:25584008|PMID:25612911|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26200271|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26743472|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27149858|PMID:27153395|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162 11772827 TP53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:28975465|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31300551|PMID:31742824|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:34299313|PMID:35938033|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8756654|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9825943|PMID:9891044 11772827 TP53 tumor protein p53 gene DOID:3078 anaplastic astrocytoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Astrocytoma, anaplastic PMID:10519380|PMID:10922393|PMID:11370630|PMID:11782540|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:16401470|PMID:16494995|PMID:16551709|PMID:16818505|PMID:17015838|PMID:17311302|PMID:17606709|PMID:18511570|PMID:19012332|PMID:19468865|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:21059199|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22672556|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24033266|PMID:24122735|PMID:24573247|PMID:24835218|PMID:25157968|PMID:25186627|PMID:25584008|PMID:25619955|PMID:25741868|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26585234|PMID:26619011|PMID:26786923|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27077130|PMID:27276561|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28975465|PMID:29581140|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30816478|PMID:32000721|PMID:32475984|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:8401536|PMID:8550239|PMID:8718514|PMID:8829627|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9667734 11772827 TP53 tumor protein p53 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17274270 11772827 TP53 tumor protein p53 gene DOID:3114 serous cystadenocarcinoma disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:16012716|REF_RGD_ID:8662305 11772827 TP53 tumor protein p53 gene DOID:3121 gallbladder cancer ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gallbladder cancer PMID:11051239|PMID:11370630|PMID:11782540|PMID:12406399|PMID:12506399|PMID:12826609|PMID:14673037|PMID:15925506|PMID:15993273|PMID:16199547|PMID:1631137|PMID:16489069|PMID:16818505|PMID:16861262|PMID:16969106|PMID:17417627|PMID:17427234|PMID:17567834|PMID:17606709|PMID:18978813|PMID:19378321|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1978757|PMID:20013323|PMID:20128691|PMID:20407015|PMID:20436704|PMID:20522432|PMID:21059199|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21601526|PMID:21665182|PMID:21761402|PMID:22186996|PMID:22265402|PMID:22713868|PMID:22915647|PMID:23172776|PMID:23246812|PMID:23484829|PMID:23667202|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24382691|PMID:24573247|PMID:24603336|PMID:24651015|PMID:25157968|PMID:25516983|PMID:25544776|PMID:25587027|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26718964|PMID:26787237|PMID:26911350|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28160093|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28975465|PMID:29025599|PMID:29752822|PMID:29979965|PMID:30224644|PMID:30322717|PMID:30327374|PMID:30720243|PMID:31105275|PMID:31742824|PMID:31775759|PMID:32817165|PMID:33471991|PMID:36988593|PMID:8099841|PMID:8425176|PMID:8527048|PMID:8688334|PMID:9242456|PMID:9598730|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:3213 demyelinating disease ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18550754 11772827 TP53 tumor protein p53 gene DOID:3247 rhabdomyosarcoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:10229196|PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519384|PMID:10713666|PMID:10753186|PMID:10797439|PMID:10864200|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11420676|PMID:11479205|PMID:11782540|PMID:11896595|PMID:11920959|PMID:12610779|PMID:12672316|PMID:12826609|PMID:1467311|PMID:15004724|PMID:15381368|PMID:15390294|PMID:15580553|PMID:15607980|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15951970|PMID:16199547|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16682957|PMID:1673792|PMID:16818505|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17308077|PMID:17311302|PMID:17318340|PMID:17540308|PMID:17576681|PMID:17606709|PMID:17636407|PMID:18511570|PMID:18628487|PMID:18685109|PMID:19367569|PMID:19556618|PMID:1978757|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20455025|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22170717|PMID:22186996|PMID:22319594|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23175693|PMID:23246812|PMID:23538418|PMID:23625637|PMID:23894400|PMID:24033266|PMID:24307375|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24728327|PMID:24764719|PMID:24810334|PMID:25157968|PMID:25326637|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26086041|PMID:26206375|PMID:26230955|PMID:26332594|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26681312|PMID:26818906|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28861920|PMID:28873162|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30327374|PMID:30352134|PMID:30630526|PMID:30816478|PMID:31016814|PMID:31105275|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:33300245|PMID:33372952|PMID:36988593|PMID:7706467|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8062826|PMID:8364550|PMID:8423216|PMID:8633021|PMID:9067756|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9681828 11772827 TP53 tumor protein p53 gene DOID:326 ischemia ISO RGD:3889 D RGD:9068941 20200609 RGD associated with Wounds and Injuries;protein:increased expression:skin PMID:18337831|REF_RGD_ID:2290551 11772827 TP53 tumor protein p53 gene DOID:326 ischemia ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15172883 11772827 TP53 tumor protein p53 gene DOID:3275 thymoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24974848 11772827 TP53 tumor protein p53 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17434459 11772827 TP53 tumor protein p53 gene DOID:3347 osteosarcoma ISO RGD:70502 D RGD:7240710 20180130 OMIM 11772827 TP53 tumor protein p53 gene DOID:3347 osteosarcoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Osteosarcoma, somatic PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:33372952|PMID:34299313|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 11772827 TP53 tumor protein p53 gene DOID:3376 bone osteosarcoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bone osteosarcoma PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12085209|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:33372952|PMID:34299313|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 11772827 TP53 tumor protein p53 gene DOID:3393 coronary artery disease ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:misssense mutation: :p.R72P (rs1042522) (human) PMID:29482350|REF_RGD_ID:14995930 11772827 TP53 tumor protein p53 gene DOID:3407 carotid artery disease ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16973168 11772827 TP53 tumor protein p53 gene DOID:3458 breast adenocarcinoma ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast adenocarcinoma, somatic PMID:10713666|PMID:11479205|PMID:11896595|PMID:11920959|PMID:12826609|PMID:1673792|PMID:16861262|PMID:1686725|PMID:17606709|PMID:20128691|PMID:20522432|PMID:21343334|PMID:23625637|PMID:25503501|PMID:25584008|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29324801|PMID:29470806|PMID:29752822|PMID:29979965|PMID:30224644|PMID:30630526|PMID:33372952|PMID:7881428|PMID:8364550 11772827 TP53 tumor protein p53 gene DOID:3459 breast carcinoma ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10922393|PMID:11139324|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15381368|PMID:1565143|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199547|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17015838|PMID:17311302|PMID:17606709|PMID:18307025|PMID:18511570|PMID:19101993|PMID:19147582|PMID:19556618|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:20805372|PMID:21159183|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22915647|PMID:22923379|PMID:23161690|PMID:23246812|PMID:23409989|PMID:23538418|PMID:23630318|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24641375|PMID:24651012|PMID:24702488|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25564201|PMID:25741868|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681682|PMID:26786923|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:28369373|PMID:28492532|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31775759|PMID:32000721|PMID:32658383|PMID:33372952|PMID:4122735|PMID:7565304|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8550239|PMID:8718514|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9662334|PMID:9667734 11772827 TP53 tumor protein p53 gene DOID:3459 breast carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10922393|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12826609|PMID:12885464|PMID:12917626|PMID:14584079|PMID:15004724|PMID:15037740|PMID:15381368|PMID:1565143|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199547|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17015838|PMID:17311302|PMID:17606709|PMID:18307025|PMID:18511570|PMID:19101993|PMID:19147582|PMID:19556618|PMID:1978757|PMID:19850740|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:20805372|PMID:21159183|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22915647|PMID:22923379|PMID:23161690|PMID:23210734|PMID:23246812|PMID:23409989|PMID:23538418|PMID:23630318|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24641375|PMID:24651012|PMID:24702488|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25408419|PMID:25564201|PMID:25741868|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681682|PMID:26786923|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28492532|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31775759|PMID:32000721|PMID:32658383|PMID:33372952|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8550239|PMID:8718514|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9662334|PMID:9667734 11772827 TP53 tumor protein p53 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29844410 11772827 TP53 tumor protein p53 gene DOID:363 uterine cancer ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:10064694|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12076704|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18818522|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19171880|PMID:19367569|PMID:19378321|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21115975|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22983585|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23340422|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25294809|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:25584008|PMID:25619955|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481 11772827 TP53 tumor protein p53 gene DOID:363 uterine cancer ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:36988593|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9049183|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:3702 cervical adenocarcinoma disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:17354237|REF_RGD_ID:2298527 11772827 TP53 tumor protein p53 gene DOID:3717 gastric adenocarcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:10064694|PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:16209708|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22983585|PMID:22999923|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23334668|PMID:23406775|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25619955|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390 11772827 TP53 tumor protein p53 gene DOID:3717 gastric adenocarcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28271309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33635883|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9096669|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9839505|PMID:9979965 11772827 TP53 tumor protein p53 gene DOID:3744 cervical squamous cell carcinoma disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:17969407|REF_RGD_ID:2298526 11772827 TP53 tumor protein p53 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16543248 11772827 TP53 tumor protein p53 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 11772827 TP53 tumor protein p53 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:misssense mutation: :p.R72P (rs1042522) (human) PMID:28789369|REF_RGD_ID:14995932 11772827 TP53 tumor protein p53 gene DOID:3907 lung squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16322298|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:2259385|PMID:22672556|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23315175|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24395441|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25123297|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25619955|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27523101|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28369373|PMID:28453743|PMID:28472496 11772827 TP53 tumor protein p53 gene DOID:3907 lung squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31775759|PMID:32000721|PMID:32295079|PMID:32401780|PMID:32475984|PMID:33372952|PMID:4122735|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:3907 lung squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:10064694|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25293557|PMID:2531845|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25619955|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680 11772827 TP53 tumor protein p53 gene DOID:3907 lung squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30630526|PMID:30675318|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34026625|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9839505|PMID:9979965 11772827 TP53 tumor protein p53 gene DOID:3907 lung squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30630526|PMID:30675318|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34026625|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9839505|PMID:9979965 11772827 TP53 tumor protein p53 gene DOID:3907 lung squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:10064694|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25293557|PMID:2531845|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25619955|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727 11772827 TP53 tumor protein p53 gene DOID:3907 lung squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30630526|PMID:30675318|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34026625|PMID:34805717|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9839505|PMID:9979965 11772827 TP53 tumor protein p53 gene DOID:3908 lung non-small cell carcinoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17290066|PMID:23435014|PMID:24688052|PMID:30381462 11772827 TP53 tumor protein p53 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:70502 D RGD:9068941 20210910 RGD human cells in mouse model PMID:23632475|REF_RGD_ID:150404268 11772827 TP53 tumor protein p53 gene DOID:3910 lung adenocarcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Adenocarcinoma of lung, somatic | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:10064694|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22862161|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627 11772827 TP53 tumor protein p53 gene DOID:3910 lung adenocarcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Adenocarcinoma of lung, somatic | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:25293557|PMID:25294809|PMID:2531845|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634208|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28271309|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33635883|PMID:33758026|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9096669|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9839505|PMID:9979965 11772827 TP53 tumor protein p53 gene DOID:3948 adrenocortical carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma | ClinVar Annotator: match by term: Adrenocortical carcinoma PMID:10229196|PMID:10567903|PMID:10864200|PMID:10871862|PMID:11051241|PMID:11429705|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:12034820|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12826609|PMID:12901974|PMID:12917626|PMID:14559903|PMID:14584079|PMID:15017592|PMID:15037740|PMID:15390294|PMID:15607980|PMID:1565144|PMID:15951970|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16736287|PMID:16818505|PMID:16861262|PMID:17308077|PMID:17401428|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17606709|PMID:17636407|PMID:17724467|PMID:18208484|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18937320|PMID:18989156|PMID:19147582|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19468865|PMID:19681600|PMID:19850740|PMID:20127978|PMID:20128691|PMID:20407015|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:21159183|PMID:21232794|PMID:21343334|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21626334|PMID:21761402|PMID:22186996|PMID:22484423|PMID:22710932|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23259501|PMID:23894400|PMID:23967324|PMID:24033266|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24641375|PMID:24677579|PMID:24728327|PMID:24744791|PMID:24940547|PMID:25157968|PMID:25339994|PMID:25503501|PMID:25584008|PMID:25584637|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25952993|PMID:26014290|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27022024|PMID:27149858|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27533082|PMID:27680515|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29070607|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31050713|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32401780|PMID:33208383|PMID:33332384|PMID:33372952|PMID:33471991|PMID:35938033|PMID:36988593|PMID:6736287|PMID:7707106|PMID:7732013|PMID:7750099|PMID:7887414|PMID:8023157|PMID:8080050|PMID:8164043|PMID:8423216|PMID:8479749|PMID:8869100|PMID:9020384|PMID:9157982|PMID:9242456|PMID:9407971|PMID:9472631|PMID:9525742|PMID:9569050|PMID:9572492 11772827 TP53 tumor protein p53 gene DOID:4001 ovarian carcinoma ISO RGD:70502 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:25535366 11772827 TP53 tumor protein p53 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:10064694|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22983585|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23340422|PMID:23406775|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25294809|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634208 11772827 TP53 tumor protein p53 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28271309|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33635883|PMID:33758026|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9096669|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:4247 coronary restenosis ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:14740296|REF_RGD_ID:1580742 11772827 TP53 tumor protein p53 gene DOID:4362 cervical cancer ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cervical cancer PMID:12826609|PMID:1349102|PMID:15982667|PMID:16754663|PMID:1849234|PMID:19913028|PMID:20516128|PMID:20538734|PMID:22110706|PMID:25131192|PMID:25741868|PMID:28492532|PMID:29979965|PMID:30224644|PMID:30374176|PMID:30816478|PMID:9407971 11772827 TP53 tumor protein p53 gene DOID:4450 renal cell carcinoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:10064694|PMID:10366100|PMID:10432928|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10864200|PMID:10922393|PMID:11370630|PMID:11429705|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12034820|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:14584079|PMID:15037740|PMID:15161705|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15850016|PMID:15925506|PMID:15977174|PMID:15982667|PMID:16312222|PMID:1644930|PMID:16494995|PMID:16508005|PMID:16736287|PMID:16818505|PMID:16861262|PMID:17015838|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17724467|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18689542|PMID:18937320|PMID:19012332|PMID:19101993|PMID:19147582|PMID:19171880|PMID:19336573|PMID:19468865|PMID:19556618|PMID:19681600|PMID:19850740|PMID:19913028|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20407015|PMID:20505364|PMID:20506564|PMID:20522432|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21159183|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21514416|PMID:21519010|PMID:21626334|PMID:21674059|PMID:21761402|PMID:22090360|PMID:22186996|PMID:22553460|PMID:22672556|PMID:22710932|PMID:22887876|PMID:22915647|PMID:22923379|PMID:22983585|PMID:23031740|PMID:23161690|PMID:23165212|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23630318|PMID:23894400|PMID:24033266|PMID:24256616|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24573247|PMID:24641375|PMID:24651012|PMID:24702488|PMID:24728327|PMID:25186627|PMID:25293557|PMID:25503501|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26066407|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26787237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27276561|PMID:27463065|PMID:27493922|PMID:27533082|PMID:27616075|PMID:27622479|PMID:27680515|PMID:27714481|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28279309|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28975465|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30675318|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31748977|PMID:31775759|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32885271|PMID:33208383|PMID:33332384|PMID:34026625|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7887414|PMID:8023157|PMID:8080050|PMID:8118819|PMID:8401536|PMID:8633021|PMID:8718514|PMID:8829627|PMID:8869100|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9572492|PMID:9635828|PMID:9662334|PMID:9667734 11772827 TP53 tumor protein p53 gene DOID:4450 renal cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:10064694|PMID:10366100|PMID:10432928|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10864200|PMID:10922393|PMID:11370630|PMID:11429705|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12034820|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:14584079|PMID:15037740|PMID:15161705|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15850016|PMID:15925506|PMID:15977174|PMID:15982667|PMID:16312222|PMID:16401470|PMID:1644930|PMID:16494995|PMID:16508005|PMID:16736287|PMID:16818505|PMID:16861262|PMID:17015838|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17724467|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18689542|PMID:18937320|PMID:19012332|PMID:19101993|PMID:19147582|PMID:19171880|PMID:19336573|PMID:19468865|PMID:19556618|PMID:19681600|PMID:19850740|PMID:19913028|PMID:20028212|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20407015|PMID:20505364|PMID:20506564|PMID:20522432|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21159183|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21514416|PMID:21519010|PMID:21626334|PMID:21674059|PMID:21761402|PMID:22090360|PMID:22186996|PMID:22553460|PMID:22672556|PMID:22710932|PMID:22887876|PMID:22915647|PMID:22923379|PMID:22983585|PMID:23031740|PMID:23161690|PMID:23165212|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23630318|PMID:23894400|PMID:24033266|PMID:24256616|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24702488|PMID:24728327|PMID:25186627|PMID:25293557|PMID:25503501|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26066407|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26787237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27276561|PMID:27463065|PMID:27493922|PMID:27533082|PMID:27616075|PMID:27622479|PMID:27680515|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28279309|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28975465|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30675318|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31748977|PMID:31775759|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32885271|PMID:33208383|PMID:33332384|PMID:33471991|PMID:34026625|PMID:35938033|PMID:36988593|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7887414|PMID:8023157|PMID:8080050|PMID:8118819|PMID:8401536|PMID:8633021|PMID:8718514|PMID:8829627|PMID:8869100|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9572492|PMID:9635828|PMID:9662334|PMID:9667734 11772827 TP53 tumor protein p53 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:17094408|REF_RGD_ID:2290544 11772827 TP53 tumor protein p53 gene DOID:4465 papillary renal cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:10432928|PMID:10589545|PMID:10922393|PMID:11668501|PMID:12826609|PMID:14559903|PMID:15037740|PMID:1565143|PMID:15977174|PMID:16312222|PMID:16861262|PMID:17015838|PMID:17308077|PMID:17390010|PMID:17606709|PMID:18307025|PMID:19101993|PMID:19367569|PMID:19556618|PMID:20028212|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20407015|PMID:20805372|PMID:21056685|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21514416|PMID:21761402|PMID:22265402|PMID:22887876|PMID:22923379|PMID:23031740|PMID:23259501|PMID:23630318|PMID:24381225|PMID:24487413|PMID:24603336|PMID:24641375|PMID:24702488|PMID:24744791|PMID:25584008|PMID:25741868|PMID:25945745|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26911350|PMID:27328919|PMID:27714481|PMID:27873457|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28492532|PMID:28724667|PMID:28975465|PMID:29070607|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30730202|PMID:30816478|PMID:31300551|PMID:31775759|PMID:32817165|PMID:33300245|PMID:33471991|PMID:36988593|PMID:7887414|PMID:8023157|PMID:8118819|PMID:8242631|PMID:8401536|PMID:8633021|PMID:9242456|PMID:9627118|PMID:9662334 11772827 TP53 tumor protein p53 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:70502 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:28551630|REF_RGD_ID:15036804 11772827 TP53 tumor protein p53 gene DOID:4468 clear cell adenocarcinoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9754764 11772827 TP53 tumor protein p53 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:70502 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:11370630|PMID:12826609|PMID:1349175|PMID:1565143|PMID:1565144|PMID:17606709|PMID:19012332|PMID:19468865|PMID:21059199|PMID:21305319|PMID:21343334|PMID:21761402|PMID:22672556|PMID:23161690|PMID:24573247|PMID:25186627|PMID:25584008|PMID:25619955|PMID:25741868|PMID:26014290|PMID:26619011|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27077130|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28975465|PMID:29581140|PMID:29979965|PMID:30224644|PMID:30816478|PMID:32000721|PMID:32475984|PMID:8401536|PMID:8718514|PMID:8829627 11772827 TP53 tumor protein p53 gene DOID:4905 pancreatic carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15221755|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1581912|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:18818522|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20301488|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20471942|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21059199|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24556621|PMID:24573247|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24797764|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25186627|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26000489|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26484312|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27101868|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27501770|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27866339|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28486781|PMID:28492532|PMID:28724667|PMID:28873162|PMID:29059199|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30067863|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30653764|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32658383|PMID:33208383|PMID:33372952|PMID:33818021|PMID:34299313|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:7981076|PMID:8062826|PMID:8102535|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8513440|PMID:8550239|PMID:8633021|PMID:8675009|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 11772827 TP53 tumor protein p53 gene DOID:4914 esophagus adenocarcinoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23525077 11772827 TP53 tumor protein p53 gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:11440 D RGD:9068941 20200609 RGD DNA:mutations:exons: PMID:26059825|REF_RGD_ID:11075076 11772827 TP53 tumor protein p53 gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:3889 D RGD:9068941 20200609 RGD DNA:mutations:exons: PMID:26059825|REF_RGD_ID:11075076 11772827 TP53 tumor protein p53 gene DOID:4947 cholangiocarcinoma ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16818635 11772827 TP53 tumor protein p53 gene DOID:4947 cholangiocarcinoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 11772827 TP53 tumor protein p53 gene DOID:4948 gallbladder carcinoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of gallbladder PMID:10616528|PMID:11370630|PMID:11593407|PMID:11793474|PMID:11896595|PMID:12007217|PMID:12509279|PMID:12726864|PMID:12826609|PMID:15077194|PMID:15607980|PMID:15607981|PMID:1565143|PMID:16209708|PMID:16312222|PMID:16401470|PMID:16633321|PMID:16778209|PMID:16861262|PMID:17311302|PMID:17530187|PMID:17606709|PMID:17875924|PMID:18511570|PMID:18555592|PMID:19462533|PMID:19556618|PMID:20128691|PMID:20407015|PMID:20516128|PMID:21113594|PMID:21343334|PMID:21761402|PMID:22006311|PMID:22114072|PMID:22233476|PMID:22427690|PMID:22553421|PMID:22887876|PMID:23031740|PMID:23259501|PMID:23263379|PMID:23713777|PMID:23792586|PMID:24573247|PMID:25433984|PMID:25503501|PMID:25584008|PMID:25741868|PMID:25927356|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26497680|PMID:26585234|PMID:26619011|PMID:26911350|PMID:28176830|PMID:28279309|PMID:28369373|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28975465|PMID:29070607|PMID:29979965|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30720243|PMID:30730202|PMID:30840781|PMID:31119730|PMID:31775759|PMID:32658383|PMID:33245408|PMID:33257846|PMID:8023157|PMID:8062826|PMID:8164043|PMID:8336941|PMID:8401536|PMID:8633021|PMID:8825920|PMID:8829653|PMID:9049183|PMID:9290701|PMID:9546439|PMID:9632751 11772827 TP53 tumor protein p53 gene DOID:4971 myelofibrosis disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD associated with Myelodysplastic Syndromes; PMID:26123119|REF_RGD_ID:11073713 11772827 TP53 tumor protein p53 gene DOID:5041 esophageal cancer ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Esophagus cancer PMID:11101847|PMID:11782540|PMID:12007217|PMID:12619118|PMID:12826609|PMID:15607980|PMID:15607981|PMID:15977174|PMID:16401470|PMID:16489069|PMID:16818505|PMID:17606709|PMID:18391940|PMID:18511570|PMID:19127115|PMID:19405127|PMID:19881536|PMID:19930417|PMID:20128691|PMID:20407015|PMID:20516128|PMID:20689556|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21761402|PMID:22006311|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22698404|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23713777|PMID:23792586|PMID:24033266|PMID:24573247|PMID:25157968|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26534844|PMID:26585234|PMID:26619011|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28492532|PMID:28873162|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31775759|PMID:32000721|PMID:36988593|PMID:8164043|PMID:8825920|PMID:9047394|PMID:9242456 11772827 TP53 tumor protein p53 gene DOID:5409 lung small cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Small cell lung cancer | ClinVar Annotator: match by term: Small cell lung carcinoma PMID:10229196|PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15951970|PMID:15977174|PMID:16209708|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16741917|PMID:16778209|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17567834|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18307025|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19101993|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19462533|PMID:19556618|PMID:1978757|PMID:19834951|PMID:19850740|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20407015|PMID:20455025|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23265383|PMID:23334668|PMID:23538418|PMID:23612969|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24307375|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26022348|PMID:26230955|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:27022024|PMID:27149858|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27523101|PMID:27533082|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28271309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28843361|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29070607|PMID:29263802|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30546832|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33635883 11772827 TP53 tumor protein p53 gene DOID:5409 lung small cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Small cell lung cancer | ClinVar Annotator: match by term: Small cell lung carcinoma PMID:35938033|PMID:36988593|PMID:7732013|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8829653|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9662334|PMID:9667734|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:5411 lung oat cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lung oat cell carcinoma PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15951970|PMID:15977174|PMID:16209708|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16741917|PMID:16778209|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17567834|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18307025|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19101993|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19462533|PMID:19556618|PMID:1978757|PMID:19834951|PMID:19850740|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23265383|PMID:23334668|PMID:23538418|PMID:23612969|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24307375|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26022348|PMID:26230955|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:27022024|PMID:27149858|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27523101|PMID:27533082|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28271309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29070607|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30546832|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33635883|PMID:35938033|PMID:36988593|PMID:7732013|PMID:7887414|PMID:8023157|PMID:8062826 11772827 TP53 tumor protein p53 gene DOID:5411 lung oat cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lung oat cell carcinoma PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8829653|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9662334|PMID:9667734|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:5419 schizophrenia ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 11772827 TP53 tumor protein p53 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck | ClinVar Annotator: match by term: Squamous cell carcinoma, head and neck, somatic PMID:10229196|PMID:10366100|PMID:10389749|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10486318|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11403041|PMID:11429705|PMID:11479205|PMID:11481490|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12067251|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14639659|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15221755|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15722483|PMID:15741269|PMID:15781620|PMID:1581912|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:1644930|PMID:16461914|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16534790|PMID:16551709|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16964264|PMID:17015838|PMID:17133269|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:17875924|PMID:17947339|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18391940|PMID:18453682|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19681600|PMID:19717094|PMID:19756158|PMID:1975675|PMID:1978757|PMID:19834951|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20471942|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20589832|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21153778|PMID:21159183|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21348641|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21878961|PMID:21934104|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22198284|PMID:22203015|PMID:22233476|PMID:22265402|PMID:22373952|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22710932|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379 11772827 TP53 tumor protein p53 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck | ClinVar Annotator: match by term: Squamous cell carcinoma, head and neck, somatic PMID:22983585|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23469205|PMID:23484829|PMID:23531339|PMID:23538418|PMID:23570263|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23733769|PMID:23792586|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24603336|PMID:24630730|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24665023|PMID:24677579|PMID:24700732|PMID:24702488|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24835218|PMID:24884479|PMID:24908601|PMID:24936644|PMID:25119136|PMID:25131192|PMID:25157968|PMID:25184754|PMID:25186627|PMID:25234657|PMID:25293557|PMID:25299233|PMID:25303977|PMID:25339994|PMID:25348012|PMID:25428789|PMID:25433984|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634010|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25787918|PMID:25886176|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26000489|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26556299|PMID:26572807|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681051|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27149858|PMID:27153395|PMID:27179933|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27328919|PMID:27372520|PMID:27374712|PMID:27391063|PMID:27449771|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27730344|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28202063|PMID:28230820|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28477317|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28573494|PMID:28724667|PMID:28756477|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29059199|PMID:29070607|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29844874|PMID:29875428|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30067863|PMID:30076369|PMID:30092803|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30588330|PMID:30607672|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31321604|PMID:31422574|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32295079|PMID:32475984|PMID:32554555|PMID:32566746|PMID:32885271|PMID:32930885|PMID:33128190|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33758026|PMID:33818021|PMID:34026625|PMID:4122735 11772827 TP53 tumor protein p53 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck | ClinVar Annotator: match by term: Squamous cell carcinoma, head and neck, somatic PMID:7565304|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:7966399|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8675009|PMID:8688334|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9407971|PMID:9470817|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044 11772827 TP53 tumor protein p53 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:10064694|PMID:10229196|PMID:10366100|PMID:10389749|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10486318|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11403041|PMID:11423991|PMID:11429705|PMID:11479205|PMID:11481490|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668501|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12067251|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14639659|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15221755|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15722483|PMID:15741269|PMID:15781620|PMID:1581912|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16461914|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16534790|PMID:16551709|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16964264|PMID:17015838|PMID:17133269|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:17875924|PMID:17947339|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18391940|PMID:18453682|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19681600|PMID:19717094|PMID:19756158|PMID:1975675|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20471942|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20589832|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21115975|PMID:21153778|PMID:21159183|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21348641|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21878961|PMID:21934104|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996 11772827 TP53 tumor protein p53 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:22198284|PMID:22203015|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22373952|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22710932|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23531339|PMID:23538418|PMID:23570263|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23733769|PMID:23792586|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24630730|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24665023|PMID:24677579|PMID:24700732|PMID:24702488|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24763289|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24835218|PMID:24884479|PMID:24908601|PMID:24936644|PMID:25119136|PMID:25131192|PMID:25157968|PMID:25184754|PMID:25186627|PMID:25234657|PMID:25293557|PMID:25294809|PMID:25299233|PMID:25303977|PMID:2531845|PMID:25339994|PMID:25348012|PMID:25428789|PMID:25433984|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634010|PMID:25634208|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25787918|PMID:25886176|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26000489|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681051|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27149858|PMID:27153395|PMID:27179933|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27372520|PMID:27374712|PMID:27391063|PMID:27449771|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27730344|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28202063|PMID:28230820|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28477317|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28573494|PMID:28724667|PMID:28756477|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29059199|PMID:29070607|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29844874|PMID:29875428|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30067863|PMID:30076369|PMID:30092803|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134 11772827 TP53 tumor protein p53 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:30374176|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30588330|PMID:30607672|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31321604|PMID:31422574|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32475984|PMID:32554555|PMID:32566746|PMID:32658311|PMID:32658383|PMID:32817165|PMID:32885271|PMID:32930885|PMID:33128190|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33504652|PMID:33758026|PMID:33818021|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:7966399|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8675009|PMID:8688334|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9399658|PMID:9407971|PMID:9470817|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9839505|PMID:9891044|PMID:9979965 11772827 TP53 tumor protein p53 gene DOID:5648 choroid plexus carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Choroid plexus carcinoma PMID:11051239|PMID:11782540|PMID:12826609|PMID:1631137|PMID:16489069|PMID:16818505|PMID:17417627|PMID:17427234|PMID:17606709|PMID:18762572|PMID:19378321|PMID:1978757|PMID:20013323|PMID:20128691|PMID:20407015|PMID:20522432|PMID:21059199|PMID:21343334|PMID:21519010|PMID:21601526|PMID:22186996|PMID:22265402|PMID:22507745|PMID:22713868|PMID:22915647|PMID:23172776|PMID:23246812|PMID:23667202|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24573247|PMID:24603336|PMID:24651015|PMID:25157968|PMID:25584008|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26787237|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28472496|PMID:28492532|PMID:28724667|PMID:29025599|PMID:29979965|PMID:30224644|PMID:30327374|PMID:31775759|PMID:36988593|PMID:8099841|PMID:8425176|PMID:8527048|PMID:9242456|PMID:9598730|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11420676|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15722483|PMID:15781620|PMID:16007150|PMID:16199547|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:17133269|PMID:17311302|PMID:17318340|PMID:17541742|PMID:17576681|PMID:17606709|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18511570|PMID:18575712|PMID:19139070|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19556618|PMID:1978757|PMID:19930417|PMID:19933256|PMID:20128691|PMID:20407015|PMID:20436704|PMID:20504876|PMID:20505364|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21626334|PMID:21666498|PMID:22170717|PMID:22186996|PMID:22571758|PMID:2259385|PMID:22703879|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23259501|PMID:23406775|PMID:23484829|PMID:23555315|PMID:23667851|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24896186|PMID:24916180|PMID:24929325|PMID:25056374|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26527317|PMID:26534844|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26690524|PMID:27146902|PMID:27210295|PMID:27276561|PMID:27374712|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27680515|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28902083|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31422574|PMID:31666926|PMID:31775759|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33818021|PMID:3471991|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9667734|PMID:9681828 11772827 TP53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15722483|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17311302|PMID:17318340|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18393224|PMID:18511570|PMID:18575712|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:1975675|PMID:1978757|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:2259385|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23259501|PMID:23406775|PMID:23484829|PMID:23555315|PMID:23624782|PMID:23667851|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24896186|PMID:24916180|PMID:24929325|PMID:25034526|PMID:25056374|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26527317|PMID:26534844|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27680515|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28724667|PMID:28861920|PMID:28902083|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33818021|PMID:3471991|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9891044 11772827 TP53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11403041|PMID:11420676|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17311302|PMID:17318340|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18393224|PMID:18511570|PMID:18575712|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:1975675|PMID:1978757|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21232794|PMID:21343334|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:2259385|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23259501|PMID:23484829|PMID:23555315|PMID:23624782|PMID:23667851|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24896186|PMID:24916180|PMID:24929325|PMID:25034526|PMID:25056374|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26527317|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27680515|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28724667|PMID:28861920|PMID:28902083|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33818021|PMID:3471991|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9891044 11772827 TP53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11403041|PMID:11420676|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17311302|PMID:17318340|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18393224|PMID:18511570|PMID:18575712|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:1975675|PMID:1978757|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21232794|PMID:21343334|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:2259385|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23259501|PMID:23484829|PMID:23555315|PMID:23624782|PMID:23667851|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24896186|PMID:24916180|PMID:24929325|PMID:25034526|PMID:25056374|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26527317|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27680515|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28724667|PMID:28861920|PMID:28902083|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9891044 11772827 TP53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11403041|PMID:11420676|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17311302|PMID:17318340|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18393224|PMID:18511570|PMID:18575712|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:1975675|PMID:1978757|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21232794|PMID:21343334|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:2259385|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23259501|PMID:23484829|PMID:23555315|PMID:23624782|PMID:23667851|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24896186|PMID:24916180|PMID:24929325|PMID:25034526|PMID:25056374|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26527317|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27680515|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28230820|PMID:28369373|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28724667|PMID:28861920|PMID:28902083|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9891044 11772827 TP53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11403041|PMID:11420676|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16033918|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17301252|PMID:17311302|PMID:17318340|PMID:17436385|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18393224|PMID:18511570|PMID:18575712|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23469205|PMID:23484829|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23667851|PMID:23733769|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28230820|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991 11772827 TP53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33818021|PMID:3471991|PMID:35806449|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9891044 11772827 TP53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11403041|PMID:11420676|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16033918|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17301252|PMID:17311302|PMID:17318340|PMID:17436385|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18393224|PMID:18511570|PMID:18575712|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23469205|PMID:23484829|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23667851|PMID:23733769|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021 11772827 TP53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:3471991|PMID:35806449|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9891044 11772827 TP53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17301252|PMID:17311302|PMID:17318340|PMID:17436385|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18393224|PMID:18511570|PMID:18575712|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23667851|PMID:23733769|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26681312|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28681140|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759 11772827 TP53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:32817165|PMID:33128190|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:7599045|PMID:7706467|PMID:7707106|PMID:7887414|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9891044 11772827 TP53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16437140|PMID:16489069|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16941491|PMID:16964264|PMID:17133269|PMID:17301252|PMID:17311302|PMID:17318340|PMID:17417627|PMID:17427234|PMID:17436385|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18393224|PMID:18511570|PMID:18575712|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20575032|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:21761402|PMID:22170717|PMID:22186996|PMID:22265402|PMID:22507745|PMID:22571758|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23172776|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23667202|PMID:23667851|PMID:23733769|PMID:23887774|PMID:23897043|PMID:23950206|PMID:23973262|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24603336|PMID:24651015|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26681312|PMID:26690524|PMID:26787237|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28681140|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29025599|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567 11772827 TP53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30588330|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:32817165|PMID:33128190|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:7599045|PMID:7706467|PMID:7707106|PMID:7887414|PMID:8080050|PMID:8099841|PMID:8242752|PMID:8352280|PMID:8425176|PMID:8527048|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9598730|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044 11772827 TP53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30588330|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:32817165|PMID:33128190|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:36988593|PMID:7599045|PMID:7706467|PMID:7707106|PMID:7887414|PMID:8080050|PMID:8099841|PMID:8242752|PMID:8352280|PMID:8425176|PMID:8527048|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9598730|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044 11772827 TP53 tumor protein p53 gene DOID:5744 ovary serous adenocarcinoma ISO RGD:70502 D RGD:9068941 20200609 RGD DNA, protein:loss of heterozygosity, increased expression:ovary PMID:1310251|REF_RGD_ID:2290540 11772827 TP53 tumor protein p53 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:10064694|PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136 11772827 TP53 tumor protein p53 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:25157968|PMID:25186627|PMID:25293557|PMID:25294809|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634208|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28271309|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33635883|PMID:33758026|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9096669|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9979965 11772827 TP53 tumor protein p53 gene DOID:5773 oral submucous fibrosis ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:oral mucosa: PMID:23776093|REF_RGD_ID:8547855 11772827 TP53 tumor protein p53 gene DOID:5844 myocardial infarction ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24358288 11772827 TP53 tumor protein p53 gene DOID:6000 congestive heart failure ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21284947 11772827 TP53 tumor protein p53 gene DOID:6171 uterine carcinosarcoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:10064694|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16209708|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18818522|PMID:18989156|PMID:19101993|PMID:1915267|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20693561|PMID:20805372|PMID:20878954|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21115975|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23334668|PMID:23406775|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25157968|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25634208|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145 11772827 TP53 tumor protein p53 gene DOID:6171 uterine carcinosarcoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:28152038|PMID:28160093|PMID:28176830|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30322717|PMID:30327374|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31105275|PMID:31119730|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32658383|PMID:32817165|PMID:32885271|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9839505 11772827 TP53 tumor protein p53 gene DOID:6179 ovarian small cell carcinoma ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Small cell carcinoma of the ovary, hypercalcemic type 11772827 TP53 tumor protein p53 gene DOID:6432 pulmonary hypertension treatment ISO RGD:11440 D RGD:9068941 20200609 RGD PMID:24334871|REF_RGD_ID:10043360 11772827 TP53 tumor protein p53 gene DOID:6536 plasma cell neoplasm ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:10064694|PMID:10411893|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15607980|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15925506|PMID:15951970|PMID:15993273|PMID:16258005|PMID:1631137|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:1673792|PMID:16793544|PMID:16818505|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17308077|PMID:1737852|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19147582|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19930417|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20195489|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20878954|PMID:21059199|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22983585|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23264849|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23667202|PMID:23713777|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25293557|PMID:25294809|PMID:25339994|PMID:25428789|PMID:25503501|PMID:25504633|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25952993|PMID:26014290|PMID:26022348|PMID:26230955|PMID:26332594|PMID:26467025|PMID:26534844|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26781615|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27533082|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30306255|PMID:30322717|PMID:30327374|PMID:30583724|PMID:30630526|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32817165|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:36988593|PMID:7651740|PMID:7732013|PMID:7737263|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8364550|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:9020384|PMID:9096669|PMID:9157982|PMID:9242456|PMID:9290701|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9635828|PMID:9667734|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:657 adenoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21946351 11772827 TP53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:7240710 20180130 OMIM 11772827 TP53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11315715|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12619118|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15161705|PMID:15308588|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18391940|PMID:18453682|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18685109|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19881536|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20538734|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23315175|PMID:23334668|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24395441|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25326637|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26024390|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27153395 11772827 TP53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28271309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:32000721|PMID:32295079|PMID:32401780|PMID:32475984|PMID:32885271|PMID:33372952|PMID:33635883|PMID:4122735|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11315715|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12619118|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15161705|PMID:15308588|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18391940|PMID:18453682|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18685109|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19881536|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20538734|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23315175|PMID:23334668|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24395441|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26024390|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858 11772827 TP53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA PMID:27153395|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28271309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:32000721|PMID:32295079|PMID:32401780|PMID:32475984|PMID:32885271|PMID:33372952|PMID:33635883|PMID:4122735|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11315715|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12619118|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15060172|PMID:15077194|PMID:15161705|PMID:15308588|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15564800|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15703170|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:16000567|PMID:16209708|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18391940|PMID:18453682|PMID:18477611|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18689542|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19881536|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20538734|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23334668|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25131192|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26580448|PMID:26585234|PMID:26619011 11772827 TP53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:26628864|PMID:26641009|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28271309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31559875|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32401780|PMID:32475984|PMID:32885271|PMID:32899294|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33635883|PMID:34026625|PMID:4122735|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9047394|PMID:9049183|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9405613|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:10064694|PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11315715|PMID:11370630|PMID:11403041|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12726864|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15060172|PMID:15077194|PMID:15161705|PMID:15308588|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15564800|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15703170|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:16000567|PMID:16199549|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18391940|PMID:18453682|PMID:18477611|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19681600|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19881536|PMID:19913028|PMID:19930417|PMID:1999338|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665182|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22710932|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23334668|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23887774 11772827 TP53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25131192|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25516983|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26659639|PMID:26681312|PMID:26718964|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27153395|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28271309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30154229|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31559875|PMID:31742824|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:32899294|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33635883|PMID:34026625|PMID:34299313|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9047394|PMID:9049183|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9405613|PMID:9407971|PMID:9472631|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9839505|PMID:9891044 11772827 TP53 tumor protein p53 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:3889 D RGD:9068941 20220714 RGD PMID:33841550|REF_RGD_ID:152998960 11772827 TP53 tumor protein p53 gene DOID:6846 familial melanoma ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:12826609|PMID:25741868|PMID:28492532 11772827 TP53 tumor protein p53 gene DOID:6846 familial melanoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:12826609|PMID:25741868|PMID:28492532|PMID:29979965|PMID:30224644 11772827 TP53 tumor protein p53 gene DOID:687 hepatoblastoma ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:12826609|PMID:1565143|PMID:17606709|PMID:19556618|PMID:20128691|PMID:21343334|PMID:22887876|PMID:23031740|PMID:25741868|PMID:26585234|PMID:26619011|PMID:28492532|PMID:29070607|PMID:29979965|PMID:30224644|PMID:31775759|PMID:8401536|PMID:8633021 11772827 TP53 tumor protein p53 gene DOID:700 mitochondrial metabolism disease ISO RGD:70502 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30673822 11772827 TP53 tumor protein p53 gene DOID:705 Leber hereditary optic neuropathy onset ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R72P(human) PMID:15838728|REF_RGD_ID:5688732 11772827 TP53 tumor protein p53 gene DOID:7575 pancreatic intraductal papillary-mucinous neoplasm ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:missense mutations: :multiple PMID:28930868|REF_RGD_ID:14995501 11772827 TP53 tumor protein p53 gene DOID:7614 meninges sarcoma ISO RGD:3889 D RGD:9068941 20210430 RGD PMID:27528400|REF_RGD_ID:12738450 11772827 TP53 tumor protein p53 gene DOID:769 neuroblastoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:10064694|PMID:10864200|PMID:11896595|PMID:12826609|PMID:15925506|PMID:17390010|PMID:17572079|PMID:19850740|PMID:20407015|PMID:21305319|PMID:21343334|PMID:23894400|PMID:25293557|PMID:25741868|PMID:26619011|PMID:27493922|PMID:28492532|PMID:29979965|PMID:30224644|PMID:34026625|PMID:7651740|PMID:9546439 11772827 TP53 tumor protein p53 gene DOID:83 cataract ISO RGD:11440 D RGD:9068941 20200609 RGD PMID:21504908|REF_RGD_ID:8547757 11772827 TP53 tumor protein p53 gene DOID:8418 congenital fibrosarcoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Infantile fibrosarcoma PMID:11051239|PMID:11782540|PMID:12826609|PMID:1631137|PMID:16489069|PMID:16818505|PMID:17417627|PMID:17427234|PMID:17606709|PMID:19378321|PMID:1978757|PMID:20013323|PMID:20128691|PMID:20407015|PMID:20522432|PMID:21059199|PMID:21343334|PMID:21519010|PMID:21601526|PMID:22186996|PMID:22265402|PMID:22713868|PMID:22915647|PMID:23172776|PMID:23246812|PMID:23667202|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24573247|PMID:24603336|PMID:24651015|PMID:25157968|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26787237|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28472496|PMID:28492532|PMID:28724667|PMID:29025599|PMID:29979965|PMID:30224644|PMID:30327374|PMID:31775759|PMID:36988593|PMID:8099841|PMID:8425176|PMID:8527048|PMID:9242456|PMID:9598730|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:8541 Sezary's disease ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667|PMID:26551670 11772827 TP53 tumor protein p53 gene DOID:863 nervous system disease ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9369336 11772827 TP53 tumor protein p53 gene DOID:8725 vascular dementia ISO RGD:3889 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:18083315|REF_RGD_ID:2290557 11772827 TP53 tumor protein p53 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia PMID:11370630|PMID:20522432|PMID:28492532 11772827 TP53 tumor protein p53 gene DOID:8893 psoriasis ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10384915 11772827 TP53 tumor protein p53 gene DOID:8923 skin melanoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:10064694|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27911860|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053 11772827 TP53 tumor protein p53 gene DOID:8923 skin melanoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33332384|PMID:33372952|PMID:33758026|PMID:34026625|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:8923 skin melanoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:10064694|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496 11772827 TP53 tumor protein p53 gene DOID:8923 skin melanoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34026625|PMID:34805717|PMID:35938033|PMID:36988593|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24185509|PMID:24997986 11772827 TP53 tumor protein p53 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3889 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:23595775|REF_RGD_ID:10412063 11772827 TP53 tumor protein p53 gene DOID:9000081 Lymphatic Metastasis ISO RGD:11440 D RGD:9068941 20200609 RGD associated with Carcinoma, Squamous Cell; PMID:18059331|REF_RGD_ID:8547790 11772827 TP53 tumor protein p53 gene DOID:9000081 Lymphatic Metastasis ISO RGD:70502 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;DNA:missense mutation, duplication:cds, intron:p.R72P PMID:18230179|REF_RGD_ID:2290534 11772827 TP53 tumor protein p53 gene DOID:9000081 Lymphatic Metastasis ISO RGD:70502 D RGD:9068941 20200609 RGD associated with Penile Neoplasms PMID:18268397|REF_RGD_ID:2290533 11772827 TP53 tumor protein p53 gene DOID:9000117 Esophageal Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12706858 11772827 TP53 tumor protein p53 gene DOID:9000117 Esophageal Neoplasms ISO RGD:11440 D RGD:9068941 20200609 RGD PMID:16778087|REF_RGD_ID:8547873 11772827 TP53 tumor protein p53 gene DOID:9000117 Esophageal Neoplasms ISO RGD:3889 D RGD:9068941 20200609 RGD protein:increased expression:esophageal mucosa: PMID:26439224|REF_RGD_ID:11075085 11772827 TP53 tumor protein p53 gene DOID:9000117 Esophageal Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17634542|PMID:26192916 11772827 TP53 tumor protein p53 gene DOID:9000217 Stomach Neoplasms ISO RGD:70502 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neoplasm of stomach PMID:11040944|PMID:11391594|PMID:11782540|PMID:12826609|PMID:15173255|PMID:15580553|PMID:16818505|PMID:17224268|PMID:17289876|PMID:17606709|PMID:17727479|PMID:19367569|PMID:19714488|PMID:20407015|PMID:21232794|PMID:21343334|PMID:21512767|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22652532|PMID:22710932|PMID:22915647|PMID:23246812|PMID:23484829|PMID:23894400|PMID:24033266|PMID:24728327|PMID:24868540|PMID:25527155|PMID:25637381|PMID:25741868|PMID:25952993|PMID:26086041|PMID:26230955|PMID:26467025|PMID:26585234|PMID:27276561|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28125078|PMID:28492532|PMID:28772286|PMID:28861920|PMID:29300620|PMID:29945567|PMID:29979965|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30374176|PMID:30883245|PMID:31016814|PMID:31159747|PMID:31749828|PMID:8198984|PMID:8203469|PMID:9865903 11772827 TP53 tumor protein p53 gene DOID:9000227 Hypogonadism and Testicular Atrophy ISO RGD:3889 D RGD:9068941 20211001 RGD PMID:28834365|REF_RGD_ID:14995504 11772827 TP53 tumor protein p53 gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747643 11772827 TP53 tumor protein p53 gene DOID:9000555 Vulvar Lichen Sclerosus ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17300232 11772827 TP53 tumor protein p53 gene DOID:9000647 Acute Erythroleukemia ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926971 11772827 TP53 tumor protein p53 gene DOID:9000906 Oropharyngeal Neoplasms disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:11072161|REF_RGD_ID:8547874 11772827 TP53 tumor protein p53 gene DOID:9000918 Disease Progression ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30381462 11772827 TP53 tumor protein p53 gene DOID:9000965 Neoplasm Metastasis ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22009531|PMID:23873029|PMID:27137931 11772827 TP53 tumor protein p53 gene DOID:9000965 Neoplasm Metastasis ISO RGD:3889 D RGD:9068941 20200609 RGD associated with Sarcoma; PMID:21854749|REF_RGD_ID:11075090 11772827 TP53 tumor protein p53 gene DOID:9000965 Neoplasm Metastasis ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17949449 11772827 TP53 tumor protein p53 gene DOID:9001510 Funnel Chest ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:11051239|PMID:11782540|PMID:12826609|PMID:1631137|PMID:16489069|PMID:16818505|PMID:17417627|PMID:17427234|PMID:17606709|PMID:19378321|PMID:1978757|PMID:20013323|PMID:20128691|PMID:20407015|PMID:20522432|PMID:21059199|PMID:21343334|PMID:21519010|PMID:21601526|PMID:22186996|PMID:22265402|PMID:22713868|PMID:22915647|PMID:23172776|PMID:23246812|PMID:23667202|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24573247|PMID:24603336|PMID:24651015|PMID:25157968|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26787237|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28472496|PMID:28492532|PMID:28724667|PMID:29025599|PMID:29979965|PMID:30224644|PMID:30327374|PMID:31775759|PMID:36988593|PMID:8099841|PMID:8425176|PMID:8527048|PMID:9242456|PMID:9598730|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 11772827 TP53 tumor protein p53 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10626228 11772827 TP53 tumor protein p53 gene DOID:9001626 Chromosome 17 Deletion ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14961032 11772827 TP53 tumor protein p53 gene DOID:9002165 Diabetic Nephropathies ISO RGD:3889 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17901943|REF_RGD_ID:2290561 11772827 TP53 tumor protein p53 gene DOID:9002170 Experimental Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12756225|PMID:27137931 11772827 TP53 tumor protein p53 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:10064694|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10713666|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15925506|PMID:15951970|PMID:15977174|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16682957|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:18307025|PMID:18511570|PMID:18685109|PMID:18937320|PMID:19101993|PMID:19147582|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19930417|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20805372|PMID:20878954|PMID:21056685|PMID:21059199|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23263379|PMID:23265383|PMID:23538418|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25339994|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26534844|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26781615|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28160093|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30216591|PMID:30224644|PMID:30322717|PMID:30327374|PMID:30583724|PMID:30630526|PMID:30709875|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31105275|PMID:31119730|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32817165|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:34026625|PMID:34308366|PMID:34994652|PMID:36988593|PMID:7651740|PMID:7732013|PMID:7737263|PMID:7791795|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8718514|PMID:8825920|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9825943|PMID:9839505 11772827 TP53 tumor protein p53 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:10867151|REF_RGD_ID:11075074 11772827 TP53 tumor protein p53 gene DOID:9002304 Prostatic Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16434975|PMID:17202838|PMID:20875869|PMID:21946351|PMID:25735316|PMID:26005866|PMID:29295717|PMID:29610475 11772827 TP53 tumor protein p53 gene DOID:9002371 Cardiotoxicity ISO RGD:11440 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:30009776|PMID:34713381 11772827 TP53 tumor protein p53 gene DOID:9002371 Cardiotoxicity ISO RGD:70502 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:30009776|PMID:34713381 11772827 TP53 tumor protein p53 gene DOID:9002641 Bone Marrow Neoplasms disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:24761810|REF_RGD_ID:11073734 11772827 TP53 tumor protein p53 gene DOID:9002644 Premature Aging ISO RGD:11440 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver: PMID:19500727|REF_RGD_ID:10045876 11772827 TP53 tumor protein p53 gene DOID:9002762 Ovarian Neoplasms ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:10064694|PMID:10229196|PMID:10389749|PMID:10411893|PMID:10432928|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10554037|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10754498|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11222779|PMID:11229518|PMID:11254385|PMID:11313981|PMID:11315715|PMID:11370630|PMID:11420676|PMID:11423991|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12610779|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349102|PMID:1349175|PMID:14559903|PMID:14584079|PMID:14612556|PMID:14673037|PMID:14965603|PMID:15004724|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15308588|PMID:15342977|PMID:15381368|PMID:15390294|PMID:15564800|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16534790|PMID:16551709|PMID:16633321|PMID:16644204|PMID:16682957|PMID:1672732|PMID:1673792|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16969106|PMID:17015838|PMID:17224268|PMID:17311302|PMID:17318340|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17591842|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18307025|PMID:18391940|PMID:18489080|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19147582|PMID:1918170|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19468865|PMID:19556618|PMID:19681600|PMID:19711436|PMID:19714490|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19850740|PMID:19881536|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20198344|PMID:20234365|PMID:20364130|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20478780|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20538734|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21225465|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21626334|PMID:21665182|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22203015|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22507745|PMID:22540896|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22862161|PMID:22878818|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:22983585|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23340422|PMID:23409989|PMID:23484829|PMID:23538418|PMID:23580068|PMID:23625637|PMID:23630318|PMID:23639785|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24251760|PMID:24256616 11772827 TP53 tumor protein p53 gene DOID:9002762 Ovarian Neoplasms ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:24278325|PMID:24307375|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24700732|PMID:24702488|PMID:24744791|PMID:24803582|PMID:24810334|PMID:24835218|PMID:24835311|PMID:24929325|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25157968|PMID:25186627|PMID:25226867|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25516983|PMID:25525159|PMID:25544776|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25612911|PMID:25619955|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25981898|PMID:26014290|PMID:26024390|PMID:26029016|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27059324|PMID:27077130|PMID:27146902|PMID:27153395|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27493922|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27726232|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28091804|PMID:28152038|PMID:28160093|PMID:28271309|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28503720|PMID:28573494|PMID:28664506|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29324801|PMID:29456621|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29946497|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30107858|PMID:30154229|PMID:30216591|PMID:30224644|PMID:30322717|PMID:30327374|PMID:30374176|PMID:30607672|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31050713|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31559875|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32029870|PMID:32295079|PMID:32475984|PMID:32555031|PMID:32658383|PMID:32817165|PMID:32899294|PMID:32930885|PMID:33245408|PMID:33257846|PMID:33372952|PMID:33471991|PMID:33504652|PMID:33635883|PMID:33758026|PMID:34026625|PMID:34095982|PMID:34299313|PMID:34529667|PMID:34805717|PMID:34906512|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7599045|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:7969167|PMID:7978053|PMID:8023157|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8164043|PMID:8208536|PMID:8242631|PMID:8302608|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:9047394|PMID:9067756|PMID:9096669|PMID:9150393|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9452042|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9825943|PMID:9839505 11772827 TP53 tumor protein p53 gene DOID:9002775 Cognitive Dysfunction ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:11051239|PMID:11782540|PMID:12826609|PMID:1631137|PMID:16489069|PMID:16818505|PMID:17417627|PMID:17427234|PMID:17606709|PMID:19378321|PMID:1978757|PMID:20013323|PMID:20128691|PMID:20407015|PMID:20522432|PMID:21059199|PMID:21343334|PMID:21519010|PMID:21601526|PMID:22186996|PMID:22265402|PMID:22713868|PMID:22915647|PMID:23172776|PMID:23246812|PMID:23667202|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24573247|PMID:24603336|PMID:24651015|PMID:25157968|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26787237|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28472496|PMID:28492532|PMID:28724667|PMID:29025599|PMID:29979965|PMID:30224644|PMID:30327374|PMID:31775759|PMID:36988593|PMID:8099841|PMID:8425176|PMID:8527048|PMID:9242456|PMID:9598730|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:9002884 Emphysema ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22276220 11772827 TP53 tumor protein p53 gene DOID:9002928 Colonic Neoplasms ISO RGD:70502 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colonic neoplasm PMID:12826609|PMID:20978130|PMID:24549055|PMID:25741868|PMID:28492532|PMID:28861920|PMID:30224644|PMID:33471991 11772827 TP53 tumor protein p53 gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia susceptibility ISO RGD:70502 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;DNA:SNP:cds: p.R72P(rs1042522)(human) PMID:21706156|REF_RGD_ID:11073725 11772827 TP53 tumor protein p53 gene DOID:9003036 Oral Lichen Planus ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:12120703|REF_RGD_ID:8547838 11772827 TP53 tumor protein p53 gene DOID:9003036 Oral Lichen Planus ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:epithelium PMID:16393253|REF_RGD_ID:8547841 11772827 TP53 tumor protein p53 gene DOID:9003155 Parasitic Liver Diseases ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 11772827 TP53 tumor protein p53 gene DOID:9003196 Penile Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9626339 11772827 TP53 tumor protein p53 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:10567903|PMID:10589545|PMID:10914716|PMID:11051239|PMID:11593407|PMID:11782540|PMID:11793474|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12826609|PMID:14673037|PMID:15825182|PMID:15925506|PMID:16288208|PMID:1631151|PMID:16337994|PMID:16818505|PMID:16861262|PMID:17606709|PMID:18555592|PMID:18818522|PMID:18989156|PMID:19367569|PMID:19681600|PMID:19834951|PMID:20128691|PMID:20407015|PMID:20878954|PMID:21115975|PMID:21343334|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22915647|PMID:22999923|PMID:23246812|PMID:23265383|PMID:23334668|PMID:24590827|PMID:25294809|PMID:25504633|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25927356|PMID:25952993|PMID:26230955|PMID:26585234|PMID:26619011|PMID:26781615|PMID:27179933|PMID:27276561|PMID:27463065|PMID:27501770|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28160093|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29470806|PMID:29753700|PMID:29979965|PMID:30224644|PMID:30322717|PMID:30327374|PMID:30583724|PMID:30630526|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31105275|PMID:32000721|PMID:33471991|PMID:34308366|PMID:34994652|PMID:7737263|PMID:8023157|PMID:8344492|PMID:8464896|PMID:8633021|PMID:9020384|PMID:9157982|PMID:9268986|PMID:9572492 11772827 TP53 tumor protein p53 gene DOID:9003535 Bone Marrow Failure Syndrome 5 ISO RGD:70502 D RGD:7240710 20190315 OMIM 11772827 TP53 tumor protein p53 gene DOID:9003535 Bone Marrow Failure Syndrome 5 ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bone marrow failure syndrome 5 PMID:10432928|PMID:10519380|PMID:10589545|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11370630|PMID:11403041|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15037740|PMID:15355915|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16437140|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16818505|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:19881536|PMID:1999338|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24573247|PMID:24641375|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24835218|PMID:25157968|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26911350|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29070607|PMID:29489754|PMID:29979965|PMID:30146126|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:33372952|PMID:34299313|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 11772827 TP53 tumor protein p53 gene DOID:9003566 Mesothelioma ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151629 11772827 TP53 tumor protein p53 gene DOID:9003571 Paraproteinemias ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:10064694|PMID:10411893|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15607980|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15925506|PMID:15951970|PMID:15993273|PMID:16258005|PMID:1631137|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:1673792|PMID:16793544|PMID:16818505|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17308077|PMID:1737852|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19147582|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19930417|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20195489|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20878954|PMID:21059199|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22983585|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23264849|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23667202|PMID:23713777|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25293557|PMID:25294809|PMID:25339994|PMID:25428789|PMID:25503501|PMID:25504633|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25952993|PMID:26014290|PMID:26022348|PMID:26230955|PMID:26332594|PMID:26467025|PMID:26534844|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26781615|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27533082|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30306255|PMID:30322717|PMID:30327374|PMID:30583724|PMID:30630526|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32817165|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:36988593|PMID:7651740|PMID:7732013|PMID:7737263|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8364550|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:9020384|PMID:9096669|PMID:9157982|PMID:9242456|PMID:9290701|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9635828|PMID:9667734|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:9003694 Cecal Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14688030 11772827 TP53 tumor protein p53 gene DOID:9004009 Reperfusion Injury ISO RGD:3889 D RGD:9068941 20200609 RGD protein:increased expression:brain, mitochondrion PMID:17661174|REF_RGD_ID:2290568 11772827 TP53 tumor protein p53 gene DOID:9004059 Eye Neoplasms ISO RGD:11440 D RGD:9068941 20230429 RGD PMID:21504908|REF_RGD_ID:8547757 11772827 TP53 tumor protein p53 gene DOID:9004217 Nerve Sheath Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20176786 11772827 TP53 tumor protein p53 gene DOID:9004240 Phyllodes Tumor disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:16889904|REF_RGD_ID:2290545 11772827 TP53 tumor protein p53 gene DOID:9004373 Autosomal Recessive Dyskeratosis Congenita ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive PMID:25741868|PMID:28492532 11772827 TP53 tumor protein p53 gene DOID:9004397 calcification of aortic valve ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29358327 11772827 TP53 tumor protein p53 gene DOID:9004397 calcification of aortic valve ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29358327 11772827 TP53 tumor protein p53 gene DOID:9004464 Skin Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22009531|PMID:27923803 11772827 TP53 tumor protein p53 gene DOID:9004464 Skin Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12635827 11772827 TP53 tumor protein p53 gene DOID:9004464 Skin Neoplasms ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:polymorphism,mutations:cds:p.R72P(human) PMID:21123835|REF_RGD_ID:8547834 11772827 TP53 tumor protein p53 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:70502 D RGD:9068941 20200609 RGD associated with Small Cell Lung Carcinoma;DNA:SNP:: rs1042522(human) PMID:24732641|REF_RGD_ID:11073715 11772827 TP53 tumor protein p53 gene DOID:9004547 Thyroid Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16940797 11772827 TP53 tumor protein p53 gene DOID:9004643 Urologic Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22071594 11772827 TP53 tumor protein p53 gene DOID:9004997 Pediatric Adrenocortical Carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma, pediatric PMID:10864200|PMID:11051239|PMID:11481490|PMID:11600572|PMID:11753428|PMID:12826609|PMID:15121773|PMID:15741269|PMID:16033918|PMID:16494995|PMID:18248785|PMID:18762572|PMID:19717094|PMID:19877175|PMID:20301488|PMID:20407015|PMID:21192060|PMID:22507745|PMID:23469205|PMID:23570263|PMID:23733769|PMID:23894400|PMID:24884479|PMID:24936644|PMID:25584008|PMID:25741868|PMID:26452166|PMID:26572807|PMID:26681051|PMID:27223487|PMID:27663983|PMID:27714481|PMID:28369373|PMID:28387921|PMID:28472496|PMID:28492532|PMID:28756477|PMID:28864397|PMID:28968711|PMID:28984303|PMID:30107858|PMID:36988593|PMID:9704930|PMID:9704931 11772827 TP53 tumor protein p53 gene DOID:9005024 Hereditary Adrenocortical Carcinoma ISO RGD:70502 D RGD:7240710 20180130 OMIM 11772827 TP53 tumor protein p53 gene DOID:9005024 Hereditary Adrenocortical Carcinoma ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10864200|PMID:10922393|PMID:11040944|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11391594|PMID:11403041|PMID:11479205|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15121773|PMID:15173255|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15741269|PMID:15781620|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17224268|PMID:17289876|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17727479|PMID:18199664|PMID:18248785|PMID:18307025|PMID:18391940|PMID:18393224|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19165225|PMID:19224462|PMID:19367569|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21187651|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21356188|PMID:21484931|PMID:21512767|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21637529|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22507745|PMID:22652532|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22710932|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23403321|PMID:23469205|PMID:23484829|PMID:23538418|PMID:23570263|PMID:23580068|PMID:23624782|PMID:23630318|PMID:23733769|PMID:23792586|PMID:23887774|PMID:23894400|PMID:24033266|PMID:24076587|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24448499|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24641375|PMID:24651012|PMID:24663046|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:24868540|PMID:24884479|PMID:24936644|PMID:25034526|PMID:25157968|PMID:25169539|PMID:25339039|PMID:25348012|PMID:25452441|PMID:25503501|PMID:25516983|PMID:25527155|PMID:25584008|PMID:25612911|PMID:25637381|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26911350|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27153395|PMID:27157322|PMID:27223487|PMID:27242894|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:27501770|PMID:27516001|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27930734|PMID:27959731|PMID:27993330|PMID:28125078|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28724667|PMID:28756477|PMID:28772286|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28968711|PMID:28984303|PMID:29070607|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29769598|PMID:29945567|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30212483|PMID:30224644|PMID:30287823|PMID:30327374 11772827 TP53 tumor protein p53 gene DOID:9005024 Hereditary Adrenocortical Carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary PMID:30374176|PMID:30588330|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31159747|PMID:31321604|PMID:31742824|PMID:31749828|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:32675277|PMID:32817165|PMID:33120919|PMID:33257846|PMID:33372952|PMID:33471991|PMID:34299313|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7796267|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8242752|PMID:8352280|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9865903|PMID:9891044 11772827 TP53 tumor protein p53 gene DOID:9005161 Thymus Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10850423 11772827 TP53 tumor protein p53 gene DOID:9005172 Lung Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16247444|PMID:26390243 11772827 TP53 tumor protein p53 gene DOID:9005172 Lung Neoplasms ISO RGD:3889 D RGD:9068941 20200609 RGD DNA:transitional mutations:exons: PMID:10564948|REF_RGD_ID:11075092 11772827 TP53 tumor protein p53 gene DOID:9005172 Lung Neoplasms ISO RGD:70502 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11798837|PMID:16410370|PMID:17325666|PMID:20727180|PMID:26192916|PMID:8049841 11772827 TP53 tumor protein p53 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nasopharyngeal Neoplasms | ClinVar Annotator: match by term: Nasopharyngeal neoplasm PMID:10589545|PMID:10914716|PMID:11370630|PMID:11782540|PMID:11920788|PMID:12007217|PMID:12124823|PMID:12826609|PMID:15607980|PMID:15607981|PMID:15825182|PMID:16288208|PMID:1631151|PMID:16401470|PMID:16494995|PMID:16736287|PMID:16818505|PMID:16861262|PMID:17541742|PMID:17606709|PMID:17724467|PMID:18208484|PMID:18555592|PMID:19468865|PMID:19834951|PMID:20128691|PMID:20407015|PMID:20505364|PMID:20516128|PMID:20522432|PMID:21343334|PMID:21514416|PMID:21519010|PMID:21626334|PMID:21761402|PMID:22006311|PMID:22186996|PMID:22233476|PMID:22915647|PMID:22999923|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23334668|PMID:23792586|PMID:24033266|PMID:24384472|PMID:24573247|PMID:24728327|PMID:25503501|PMID:25741868|PMID:25927356|PMID:25952993|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26467025|PMID:26585234|PMID:26619011|PMID:27276561|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28369373|PMID:28492532|PMID:28724667|PMID:28861920|PMID:29489754|PMID:29979965|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30327374|PMID:30720243|PMID:30840781|PMID:31119730|PMID:31775759|PMID:33245408|PMID:33257846|PMID:33332384|PMID:6736287|PMID:7707106|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8164043|PMID:8344492|PMID:8464896|PMID:8633021|PMID:8825920|PMID:8869100|PMID:9546439|PMID:9632751 11772827 TP53 tumor protein p53 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24809783 11772827 TP53 tumor protein p53 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3889 D RGD:9068941 20200609 RGD PMID:17470299|REF_RGD_ID:2290577 11772827 TP53 tumor protein p53 gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:11440 D RGD:9068941 20200609 RGD PMID:18092324|REF_RGD_ID:2290539 11772827 TP53 tumor protein p53 gene DOID:9005582 Adrenal Cortex Neoplasms ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:missense mutation::p.R337H (human) PMID:28387921|REF_RGD_ID:14995484 11772827 TP53 tumor protein p53 gene DOID:9005642 Odontogenic Myxoma ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:hypomethylation:promotor: PMID:22011900|REF_RGD_ID:8547808 11772827 TP53 tumor protein p53 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21078376 11772827 TP53 tumor protein p53 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3889 D RGD:9068941 20200609 RGD PMID:24828139|REF_RGD_ID:8662307 11772827 TP53 tumor protein p53 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23792339 11772827 TP53 tumor protein p53 gene DOID:9005779 Polyploidy ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25125259 11772827 TP53 tumor protein p53 gene DOID:9005804 Vulvar Neoplasms ISO RGD:3889 D RGD:9068941 20200609 RGD PMID:30514679|REF_RGD_ID:14995938 11772827 TP53 tumor protein p53 gene DOID:9005804 Vulvar Neoplasms ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:vulva PMID:16033093|REF_RGD_ID:2290537 11772827 TP53 tumor protein p53 gene DOID:9005873 Tongue Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16543248 11772827 TP53 tumor protein p53 gene DOID:9005873 Tongue Neoplasms ISO RGD:3889 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:12167434|REF_RGD_ID:8547871 11772827 TP53 tumor protein p53 gene DOID:9005873 Tongue Neoplasms ISO RGD:3889 D RGD:9068941 20200609 RGD protein:increased expression:tongue: PMID:9485768|REF_RGD_ID:8547872 11772827 TP53 tumor protein p53 gene DOID:9005873 Tongue Neoplasms ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:21903770|REF_RGD_ID:8547850 11772827 TP53 tumor protein p53 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Head and Neck Neoplasms PMID:20522432|PMID:23255406|PMID:24382691|PMID:25157968|PMID:25741868|PMID:26225655|PMID:27726232|PMID:28492532|PMID:28873162|PMID:30107858|PMID:31775759|PMID:36988593|PMID:9067756 11772827 TP53 tumor protein p53 gene DOID:9006205 Animal Disease Models ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23873029 11772827 TP53 tumor protein p53 gene DOID:9006657 Colon Diverticulum ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colonic diverticula PMID:16969106|PMID:17567834|PMID:19556618|PMID:19711436|PMID:19714490|PMID:20436704|PMID:20522432|PMID:21519010|PMID:21665182|PMID:21761402|PMID:22186996|PMID:23484829|PMID:24033266|PMID:24382691|PMID:25516983|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26425688|PMID:26718964|PMID:26911350|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28492532|PMID:30224644|PMID:31742824 11772827 TP53 tumor protein p53 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9369336 11772827 TP53 tumor protein p53 gene DOID:9006864 Trigeminal Nerve Injuries ISO RGD:3889 D RGD:9068941 20200609 RGD PMID:22977862|REF_RGD_ID:8547771 11772827 TP53 tumor protein p53 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:10064694|PMID:10366100|PMID:10432928|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10864200|PMID:10922393|PMID:11370630|PMID:11429705|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12034820|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:14584079|PMID:15037740|PMID:15161705|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15850016|PMID:15925506|PMID:15977174|PMID:15982667|PMID:16312222|PMID:16401470|PMID:1644930|PMID:16494995|PMID:16508005|PMID:16736287|PMID:16818505|PMID:16861262|PMID:17015838|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17724467|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18689542|PMID:18937320|PMID:19012332|PMID:19101993|PMID:19147582|PMID:19171880|PMID:19336573|PMID:19468865|PMID:19556618|PMID:19681600|PMID:19850740|PMID:19913028|PMID:20028212|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20407015|PMID:20505364|PMID:20506564|PMID:20522432|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21159183|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21514416|PMID:21519010|PMID:21626334|PMID:21674059|PMID:21761402|PMID:22090360|PMID:22186996|PMID:22553460|PMID:22672556|PMID:22710932|PMID:22887876|PMID:22915647|PMID:22923379|PMID:22983585|PMID:23031740|PMID:23161690|PMID:23165212|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23630318|PMID:23894400|PMID:24033266|PMID:24256616|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24702488|PMID:24728327|PMID:25186627|PMID:25293557|PMID:25503501|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26066407|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26787237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27276561|PMID:27463065|PMID:27493922|PMID:27533082|PMID:27616075|PMID:27622479|PMID:27680515|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28279309|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28975465|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30675318|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31748977|PMID:31775759|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32885271|PMID:33208383|PMID:33332384|PMID:33471991|PMID:34026625|PMID:35938033|PMID:36988593|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7887414|PMID:8023157|PMID:8080050|PMID:8118819|PMID:8401536|PMID:8633021|PMID:8718514|PMID:8829627|PMID:8869100|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9572492|PMID:9635828|PMID:9662334|PMID:9667734 11772827 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10064694|PMID:10206274|PMID:10229196|PMID:10366100|PMID:10389749|PMID:10408787|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10477429|PMID:10484981|PMID:10486318|PMID:10497279|PMID:10507764|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10557074|PMID:10567903|PMID:10570149|PMID:10589545|PMID:10606817|PMID:10653977|PMID:10654936|PMID:10673500|PMID:10713666|PMID:10719737|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10854221|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11040944|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11124955|PMID:11139324|PMID:11152481|PMID:11161397|PMID:11180592|PMID:11222779|PMID:11254385|PMID:11285227|PMID:11313981|PMID:11315715|PMID:11332399|PMID:11358831|PMID:11359905|PMID:11370630|PMID:11391594|PMID:11403041|PMID:11420676|PMID:11423991|PMID:11429700|PMID:11429705|PMID:11453810|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11715068|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12034820|PMID:12067251|PMID:12070601|PMID:12124823|PMID:12170762|PMID:12209975|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12509970|PMID:12524418|PMID:12567188|PMID:12610779|PMID:12619103|PMID:12619118|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12759621|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:1394133|PMID:14559903|PMID:14612556|PMID:14639659|PMID:14670539|PMID:14673037|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15173255|PMID:15192123|PMID:15221755|PMID:15308588|PMID:15355915|PMID:1537617|PMID:15381368|PMID:15390294|PMID:15469940|PMID:15489903|PMID:15541116|PMID:15580553|PMID:1559227|PMID:15607980|PMID:15607981|PMID:15611070|PMID:1562462|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15703170|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15781632|PMID:15784129|PMID:1581912|PMID:15825182|PMID:15850016|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16061860|PMID:16199547|PMID:16199549|PMID:16204849|PMID:16209708|PMID:16229746|PMID:16258005|PMID:16288208|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16437140|PMID:1644930|PMID:16477330|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16522644|PMID:16534790|PMID:16551709|PMID:16596195|PMID:16644204|PMID:16682957|PMID:16687402|PMID:16707427|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16818665|PMID:16821082|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16907706|PMID:16941491|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17133269|PMID:17224074|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401432|PMID:17417627|PMID:17417775|PMID:17427234|PMID:17436385|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17627286|PMID:17636407|PMID:17638920|PMID:17690113|PMID:17704262|PMID:17724467|PMID:17727479|PMID:17875924|PMID:17903248|PMID:17947339|PMID:17982662|PMID:18037961|PMID:18094375|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18348285|PMID:18348286|PMID:18391940|PMID:18393224|PMID:18413811|PMID:18453682|PMID:18489080|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18563462|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18798306|PMID:18818522|PMID:18843282|PMID:18923929|PMID:18978813|PMID:19012332|PMID:19020536|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267 11772827 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19160491|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19238535|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19558493|PMID:19581934|PMID:19671856|PMID:19681600|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20010306|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21153778|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21323968|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21488255|PMID:21512767|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21900752|PMID:21934104|PMID:21946351|PMID:21953469|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22356895|PMID:22373952|PMID:22427690|PMID:22484423|PMID:22507745|PMID:22540896|PMID:22551440|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22606048|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22800615|PMID:22811390|PMID:22829111|PMID:22866089|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22923433|PMID:22983585|PMID:23031740|PMID:23056405|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23315175|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23571737|PMID:23580068|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23665223|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23742673|PMID:23792586|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24171036|PMID:24198462|PMID:24218030|PMID:24224046|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24374182|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24395441|PMID:24448499|PMID:24451277|PMID:24487276|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24835218 11772827 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24853176|PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24929325|PMID:24936644|PMID:24952744|PMID:25034526|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25149524|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256751|PMID:25293557|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25365311|PMID:25422255|PMID:25428789|PMID:25452441|PMID:25460562|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25512523|PMID:25516983|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25544776|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25637381|PMID:25669829|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25923920|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26086041|PMID:26094658|PMID:26200271|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26527317|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26659639|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718692|PMID:26718964|PMID:26743472|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26837699|PMID:26845104|PMID:26876197|PMID:26878390|PMID:26900293|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27147571|PMID:27149858|PMID:27153395|PMID:27179933|PMID:27189670|PMID:27194209|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27267833|PMID:27276561|PMID:27297285|PMID:27328919|PMID:27372520|PMID:27374712|PMID:27418648|PMID:27443514|PMID:27443517|PMID:27449771|PMID:27458004|PMID:27463065|PMID:27484708|PMID:27496084|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27545002|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27626311|PMID:27657329|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27730344|PMID:27834926|PMID:27844328|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27959731|PMID:27978560|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28199989|PMID:28202063|PMID:28222664|PMID:28230820|PMID:28234344|PMID:28255015|PMID:28271309|PMID:28288110|PMID:28349240|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373|PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477317|PMID:28486781|PMID:28492532|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28772286|PMID:28776571|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28961279|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29059199|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29247016|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29456621|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29769598|PMID:29770616|PMID:29785153|PMID:29844874|PMID:29875428|PMID:29945567|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30067863|PMID:30076369|PMID:30092803|PMID:30093976|PMID:30107858|PMID:30128536|PMID:30181807|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30240537|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374 11772827 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30588330|PMID:30607672|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31159747|PMID:31206626|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31422574|PMID:31462179|PMID:31567591|PMID:31666926|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31843900|PMID:31881331|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32283892|PMID:32295079|PMID:32322110|PMID:32371905|PMID:32401780|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32566746|PMID:32658383|PMID:32675277|PMID:32722340|PMID:32885271|PMID:32930885|PMID:33051313|PMID:33128190|PMID:33178583|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33471991|PMID:33635883|PMID:33818021|PMID:34198491|PMID:34240179|PMID:34452612|PMID:3471991|PMID:34739844|PMID:4122735|PMID:7565304|PMID:7599045|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7732013|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8352280|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:920706|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9865903|PMID:9891044 11772827 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:19165225|PMID:19171880|PMID:19224462|PMID:19238535|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19558493|PMID:19581934|PMID:19671856|PMID:19681600|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20010306|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21153778|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21323968|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21488255|PMID:21512767|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21900752|PMID:21934104|PMID:21946351|PMID:21953469|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22356895|PMID:22373952|PMID:22427690|PMID:22484423|PMID:22507745|PMID:22540896|PMID:22551440|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22606048|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22800615|PMID:22811390|PMID:22829111|PMID:22866089|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22923433|PMID:22983585|PMID:23031740|PMID:23056405|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23315175|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23571737|PMID:23580068|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23665223|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23742673|PMID:23792586|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24171036|PMID:24198462|PMID:24218030|PMID:24224046|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24374182|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24395441|PMID:24448499|PMID:24451277|PMID:24487276|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24835218|PMID:24853176 11772827 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24929325|PMID:24936644|PMID:24952744|PMID:25034526|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25149524|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256751|PMID:25293557|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25365311|PMID:25422255|PMID:25428789|PMID:25452441|PMID:25460562|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25512523|PMID:25516983|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25544776|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25637381|PMID:25669829|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25923920|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26086041|PMID:26094658|PMID:26200271|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26527317|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26659639|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718692|PMID:26718964|PMID:26743472|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26837699|PMID:26845104|PMID:26876197|PMID:26878390|PMID:26900293|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27147571|PMID:27149858|PMID:27153395|PMID:27179933|PMID:27189670|PMID:27194209|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27267833|PMID:27276561|PMID:27297285|PMID:27328919|PMID:27372520|PMID:27374712|PMID:27418648|PMID:27443514|PMID:27443517|PMID:27449771|PMID:27458004|PMID:27463065|PMID:27484708|PMID:27496084|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27545002|PMID:27553368|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27626311|PMID:27657329|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27730344|PMID:27834926|PMID:27844328|PMID:27854218|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27959731|PMID:27978560|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28199989|PMID:28202063|PMID:28222664|PMID:28230820|PMID:28234344|PMID:28255015|PMID:28271309|PMID:28288110|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373|PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477317|PMID:28486781|PMID:28492532|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28772286|PMID:28776571|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28961279|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29059199|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29174094|PMID:29247016|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29456621|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29769598|PMID:29770616|PMID:29785153|PMID:29844874|PMID:29875428|PMID:29945567|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30093976|PMID:30107858|PMID:30128536|PMID:30181807|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30240537|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255 11772827 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30588330|PMID:30607672|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31159747|PMID:31206626|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31422574|PMID:31462179|PMID:31567591|PMID:31666926|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31843900|PMID:31881331|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32283892|PMID:32295079|PMID:32322110|PMID:32371905|PMID:32401780|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32566746|PMID:32658383|PMID:32675277|PMID:32722340|PMID:32885271|PMID:32916163|PMID:32930885|PMID:33051313|PMID:33128190|PMID:33178583|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33471991|PMID:33580201|PMID:33635883|PMID:33818021|PMID:34198491|PMID:34240179|PMID:34390506|PMID:34452612|PMID:3471991|PMID:34739844|PMID:4122735|PMID:7565304|PMID:7599045|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7732013|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8352280|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:920706|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9865903|PMID:9891044 11772827 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10064694|PMID:10097082|PMID:10206274|PMID:10229196|PMID:10329187|PMID:10366100|PMID:10389749|PMID:10408787|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10449408|PMID:10477429|PMID:10484981|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10557074|PMID:10567903|PMID:10570149|PMID:10589545|PMID:10606817|PMID:10616528|PMID:10653977|PMID:10654936|PMID:10673500|PMID:10706125|PMID:10713666|PMID:10719737|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10777217|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10854221|PMID:10864200|PMID:10871862|PMID:10901165|PMID:10914716|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11040944|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11124955|PMID:11139324|PMID:11152481|PMID:11161397|PMID:11180592|PMID:11222779|PMID:11229518|PMID:11254385|PMID:11285227|PMID:11313981|PMID:11315715|PMID:11332399|PMID:11358831|PMID:11359905|PMID:11370630|PMID:11391594|PMID:11403041|PMID:11420676|PMID:11423991|PMID:11429700|PMID:11429705|PMID:11453810|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668476|PMID:11715068|PMID:11753428|PMID:11756653|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12034820|PMID:12067251|PMID:12070601|PMID:12124823|PMID:12170762|PMID:12209975|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12610779|PMID:12619103|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12716906|PMID:12726864|PMID:12759621|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:1394133|PMID:14559903|PMID:14584079|PMID:14612556|PMID:14639659|PMID:14670539|PMID:14673037|PMID:1467311|PMID:14965603|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15173255|PMID:15221755|PMID:15308588|PMID:15355915|PMID:1537617|PMID:15381368|PMID:15390294|PMID:15469940|PMID:15489903|PMID:15541116|PMID:15548685|PMID:15564800|PMID:15580553|PMID:1559227|PMID:15607980|PMID:15607981|PMID:15611070|PMID:15611505|PMID:1562462|PMID:15630097|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15703170|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15781632|PMID:15784129|PMID:1581912|PMID:15825182|PMID:15850016|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16173033|PMID:16199547|PMID:16199549|PMID:16204849|PMID:16209708|PMID:16229746|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16437140|PMID:1644930|PMID:16461914|PMID:16474844|PMID:16477330|PMID:16487937|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16522644|PMID:16534790|PMID:16551709|PMID:16596195|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16687402|PMID:16707427|PMID:16723121|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16818665|PMID:16821082|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16907706|PMID:16941491|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17121789|PMID:17133269|PMID:17170001|PMID:17224074|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17401432|PMID:17417627|PMID:17417775|PMID:17427234|PMID:17436385|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17591842|PMID:17599946|PMID:17606709|PMID:17627286|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17704262|PMID:17724467|PMID:17727479|PMID:17875924|PMID:17903248|PMID:17947339|PMID:17982662|PMID:18037961|PMID:18094375|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18348285 11772827 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18348286|PMID:18391940|PMID:18393224|PMID:18413811|PMID:18453682|PMID:18489080|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18563462|PMID:18575712|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18762572|PMID:18798306|PMID:18818522|PMID:18843282|PMID:18923929|PMID:18923936|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19160491|PMID:19165225|PMID:19171880|PMID:1918170|PMID:19224462|PMID:19238535|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19558493|PMID:19558684|PMID:19671856|PMID:19681600|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:19958544|PMID:1999338|PMID:20010306|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20426520|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20589832|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21153778|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21323968|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21488255|PMID:21512767|PMID:21514416|PMID:21519010|PMID:21520333|PMID:21522129|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21878961|PMID:21900752|PMID:21904608|PMID:21934104|PMID:21946351|PMID:21953469|PMID:22006311|PMID:22046250|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22354696|PMID:22356895|PMID:22373952|PMID:22427690|PMID:22446329|PMID:22484423|PMID:22495821|PMID:22507745|PMID:22540896|PMID:22551440|PMID:22553421|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22606048|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22800615|PMID:22811390|PMID:22829111|PMID:22862161|PMID:22866089|PMID:22877736|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22923433|PMID:22949826|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23056405|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23406775|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23571737|PMID:23580068|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23665223|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23742673|PMID:23792586|PMID:23863845|PMID:23887774|PMID:23894400|PMID:23897043 11772827 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23950206|PMID:23967324|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24171036|PMID:24198462|PMID:24218030|PMID:24219989|PMID:24224046|PMID:24251760|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24373500|PMID:24374182|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24448499|PMID:24451277|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24733378|PMID:24744791|PMID:24763289|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24835218|PMID:24835311|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:24952744|PMID:25034526|PMID:25047674|PMID:25056374|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25149524|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256751|PMID:25293557|PMID:25294809|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25365311|PMID:25422255|PMID:25428789|PMID:25433984|PMID:25452441|PMID:25460562|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25504633|PMID:25512523|PMID:25516983|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25544776|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25634208|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25730903|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25881545|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26029016|PMID:26066407|PMID:26070072|PMID:26086041|PMID:26094658|PMID:26181206|PMID:26200271|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26527317|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26659639|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26723900|PMID:26743472|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26837699|PMID:26845104|PMID:26851285|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27147571|PMID:27149858|PMID:27153395|PMID:27157322|PMID:27179933|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27276561|PMID:27276934|PMID:27297285|PMID:27328919|PMID:27341992|PMID:27372520|PMID:27374712|PMID:27391063|PMID:27418648|PMID:27443514|PMID:27443517|PMID:27449771|PMID:27458004|PMID:27463065|PMID:27484708|PMID:27493922|PMID:27496084|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27545002|PMID:27553368|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27657329|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27730344|PMID:27741277|PMID:27785980|PMID:27834926|PMID:27844328|PMID:27854218|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27930734|PMID:27959731|PMID:27978560|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28202063|PMID:28222664|PMID:28230820|PMID:28234344|PMID:28255015|PMID:2826609|PMID:28271309|PMID:28279309|PMID:28288110|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373 11772827 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477316|PMID:28477317|PMID:28484276|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28772286|PMID:28772290|PMID:28776571|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28961258|PMID:28961279|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29059199|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29189820|PMID:29247016|PMID:29263802|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29392648|PMID:29456621|PMID:29464067|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29769598|PMID:29770616|PMID:29774081|PMID:29785153|PMID:29844874|PMID:29847298|PMID:29875428|PMID:29936259|PMID:29945567|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30057026|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30093976|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30152528|PMID:30181807|PMID:30190792|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30239254|PMID:30240537|PMID:30262806|PMID:30267214|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30546832|PMID:30588330|PMID:30607672|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30828720|PMID:30840781|PMID:30883245|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31159747|PMID:31206626|PMID:31212162|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31365877|PMID:31422574|PMID:31462179|PMID:31559875|PMID:31567591|PMID:31666926|PMID:31742824|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31843900|PMID:31881331|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32371905|PMID:32401780|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32554555|PMID:32555031|PMID:32566746|PMID:32658311|PMID:32658383|PMID:32675277|PMID:32722340|PMID:32817165|PMID:32854451|PMID:32885271|PMID:32899294|PMID:32916163|PMID:32930885|PMID:32994724|PMID:33011440|PMID:33047316|PMID:33051313|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33230179|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33436392|PMID:33471991|PMID:33504652|PMID:33580201|PMID:33635883|PMID:33758026|PMID:33818021|PMID:34026625|PMID:34095982|PMID:34099776|PMID:34198491|PMID:34240179|PMID:34299313|PMID:34308366|PMID:34390506|PMID:34452612|PMID:34504096|PMID:34529667|PMID:34539758|PMID:3471991|PMID:34739844|PMID:34906512|PMID:34961499|PMID:35050731|PMID:35886069|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7599045|PMID:7651740|PMID:7669577|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7731702|PMID:7732013|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8302608|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8352280|PMID:8364550|PMID:8378080|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479743|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8649785|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8825920 11772827 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9367778|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9467949|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9839505|PMID:9865903|PMID:9891044|PMID:9979965 11772827 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10064694|PMID:10097082|PMID:10206274|PMID:10229196|PMID:10329187|PMID:10366100|PMID:10389749|PMID:10408787|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10449408|PMID:10477429|PMID:10484981|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10557074|PMID:10567903|PMID:10570149|PMID:10589545|PMID:10606817|PMID:10616528|PMID:10653977|PMID:10654936|PMID:10673500|PMID:10706125|PMID:10713666|PMID:10719737|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10777217|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10854221|PMID:10864200|PMID:10871862|PMID:10901165|PMID:10914716|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11040944|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11124955|PMID:11139324|PMID:11152481|PMID:11161397|PMID:11180592|PMID:11222779|PMID:11229518|PMID:11254385|PMID:11285227|PMID:11313981|PMID:11315715|PMID:11332399|PMID:11358831|PMID:11359905|PMID:11370630|PMID:11391594|PMID:11403041|PMID:11420676|PMID:11423991|PMID:11429700|PMID:11429705|PMID:11453810|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668476|PMID:11668501|PMID:11715068|PMID:11753428|PMID:11756653|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12034820|PMID:12067251|PMID:12070601|PMID:12124823|PMID:12170762|PMID:12209975|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12610779|PMID:12619103|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12716906|PMID:12726864|PMID:12759621|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:1394133|PMID:14559903|PMID:14584079|PMID:14587098|PMID:14612556|PMID:14639659|PMID:14670539|PMID:14673037|PMID:1467311|PMID:14965603|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15173255|PMID:15221755|PMID:15308588|PMID:15355915|PMID:1537617|PMID:15381368|PMID:15390294|PMID:15469940|PMID:15489903|PMID:15541116|PMID:15548685|PMID:15564800|PMID:15580553|PMID:1559227|PMID:15607980|PMID:15607981|PMID:15611070|PMID:15611505|PMID:1562462|PMID:15630097|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15703170|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15781632|PMID:15784129|PMID:1581912|PMID:15825182|PMID:15850016|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16173033|PMID:16199547|PMID:16199549|PMID:16204849|PMID:16209708|PMID:16229746|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16437140|PMID:1644930|PMID:16461914|PMID:16474844|PMID:16477330|PMID:16487937|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16522644|PMID:16534790|PMID:16551709|PMID:16596195|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16687402|PMID:16707427|PMID:16723121|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16818665|PMID:16821082|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16907706|PMID:16941491|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17121789|PMID:17133269|PMID:17170001|PMID:17224074|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17401432|PMID:17417627|PMID:17417775|PMID:17427234|PMID:17436385|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17591842|PMID:17599946|PMID:17606709|PMID:17627286|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17704262|PMID:17724467|PMID:17727479|PMID:17875924|PMID:17903248|PMID:17947339|PMID:17982662|PMID:18037961|PMID:18094375|PMID:18199664|PMID:18208484|PMID:18248785 11772827 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18307025|PMID:18348285|PMID:18348286|PMID:18391940|PMID:18393224|PMID:18413811|PMID:18453682|PMID:18489080|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18563462|PMID:18575712|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18762572|PMID:18798306|PMID:18818522|PMID:18843282|PMID:18923929|PMID:18923936|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19160491|PMID:19165225|PMID:19171880|PMID:1918170|PMID:19224462|PMID:19238535|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19558493|PMID:19558684|PMID:19671856|PMID:19681600|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:19958544|PMID:1999338|PMID:20010306|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20028212|PMID:20030809|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20234365|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20426520|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20589832|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21153778|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21323968|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21488255|PMID:21512767|PMID:21514416|PMID:21519010|PMID:21520333|PMID:21522129|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21878961|PMID:21900752|PMID:21904608|PMID:21934104|PMID:21946351|PMID:21953469|PMID:22006311|PMID:22046250|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22354696|PMID:22356895|PMID:22373952|PMID:22427690|PMID:22446329|PMID:22484423|PMID:22495821|PMID:22507745|PMID:22540896|PMID:22551440|PMID:22553421|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22606048|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22800615|PMID:22811390|PMID:22829111|PMID:22862161|PMID:22866089|PMID:22877736|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22923433|PMID:22949826|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23056405|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23406775|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23571737|PMID:23580068|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23665223|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23742673 11772827 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23792586|PMID:23863845|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23967324|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24171036|PMID:24198462|PMID:24218030|PMID:24219989|PMID:24224046|PMID:24251760|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24373500|PMID:24374182|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24448499|PMID:24451277|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24733378|PMID:24744791|PMID:24763289|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24835218|PMID:24835311|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:24952744|PMID:25034526|PMID:25047674|PMID:25056374|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25149524|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256751|PMID:25293557|PMID:25294809|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25365311|PMID:25422255|PMID:25428789|PMID:25433984|PMID:25452441|PMID:25460562|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25504633|PMID:25512523|PMID:25516983|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25544776|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25634208|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25730903|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25881545|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26029016|PMID:26066407|PMID:26070072|PMID:26086041|PMID:26094658|PMID:26181206|PMID:26200271|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26527317|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26659639|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26723900|PMID:26743472|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26837699|PMID:26845104|PMID:26851285|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27147571|PMID:27149858|PMID:27153395|PMID:27157322|PMID:27179933|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27276561|PMID:27276934|PMID:27297285|PMID:27328919|PMID:27341992|PMID:27372520|PMID:27374712|PMID:27391063|PMID:27418648|PMID:27443514|PMID:27443517|PMID:27449771|PMID:27458004|PMID:27463065|PMID:27484708|PMID:27489289|PMID:27493922|PMID:27496084|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27545002|PMID:27553368|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27642012|PMID:27657329|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27730344|PMID:27741277|PMID:27785980|PMID:27834926|PMID:27844328|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27930734|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28202063|PMID:28222664|PMID:28230820|PMID:28234344|PMID:28255015|PMID:2826609|PMID:28271309|PMID:28279309 11772827 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28288110|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373|PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477316|PMID:28477317|PMID:28484276|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28772286|PMID:28772290|PMID:28776571|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28826481|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28961258|PMID:28961279|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29059199|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29189820|PMID:29247016|PMID:29263802|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29392648|PMID:29456621|PMID:29464067|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29625052|PMID:29652801|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29769598|PMID:29770616|PMID:29774081|PMID:29785153|PMID:29844874|PMID:29847298|PMID:29875428|PMID:29936259|PMID:29945567|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30057026|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30093976|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30152528|PMID:30154229|PMID:30181807|PMID:30190792|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30239254|PMID:30240537|PMID:30262806|PMID:30267214|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30546832|PMID:30583724|PMID:30588330|PMID:30607672|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30828720|PMID:30840781|PMID:30883245|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31159747|PMID:31206626|PMID:31212162|PMID:31265190|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31365877|PMID:31422574|PMID:31462179|PMID:31559875|PMID:31567591|PMID:31666926|PMID:31742824|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31843900|PMID:31881331|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32371905|PMID:32401780|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32554555|PMID:32555031|PMID:32566746|PMID:32658311|PMID:32658383|PMID:32675277|PMID:32722340|PMID:32817165|PMID:32854451|PMID:32885271|PMID:32899294|PMID:32916163|PMID:32930885|PMID:32994724|PMID:33011440|PMID:33047316|PMID:33051313|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33230179|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33436392|PMID:33471991|PMID:33504652|PMID:33580201|PMID:33635883|PMID:33758026|PMID:33818021|PMID:34026625|PMID:34095982|PMID:34099776|PMID:34198491|PMID:34240179|PMID:34264394|PMID:34299313|PMID:34308366|PMID:34390506|PMID:34452612|PMID:34504096|PMID:34529667|PMID:34539758|PMID:3471991|PMID:34739844|PMID:34805717|PMID:34906512|PMID:34961499|PMID:34994652|PMID:35050731|PMID:35886069|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7599045|PMID:7651740|PMID:7669577|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7731702|PMID:7732013|PMID:7737263|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8302608|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8352280 11772827 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:8364550|PMID:8378080|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479743|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8649785|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9367778|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9467949|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9839505|PMID:9865903|PMID:9891044|PMID:9979965 11772827 TP53 tumor protein p53 gene DOID:9007150 Urogenital Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17300232 11772827 TP53 tumor protein p53 gene DOID:9007188 Liver Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12378512|PMID:16410370 11772827 TP53 tumor protein p53 gene DOID:9007364 Mouth Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19435901 11772827 TP53 tumor protein p53 gene DOID:9007364 Mouth Neoplasms ISO RGD:11440 D RGD:9068941 20200609 RGD PMID:16778087|REF_RGD_ID:8547873 11772827 TP53 tumor protein p53 gene DOID:9007364 Mouth Neoplasms ISO RGD:3889 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:oral epithelium PMID:17595763|REF_RGD_ID:2290572 11772827 TP53 tumor protein p53 gene DOID:9007364 Mouth Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24224046 11772827 TP53 tumor protein p53 gene DOID:9007400 Lip Neoplasms ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:17238970|REF_RGD_ID:8662391 11772827 TP53 tumor protein p53 gene DOID:9007456 Female Infertility ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22532853 11772827 TP53 tumor protein p53 gene DOID:9007502 Brain Neoplasms ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Brain neoplasm | ClinVar Annotator: match by term: Neoplasm of brain PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:2259385|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25294809|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634208|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745 11772827 TP53 tumor protein p53 gene DOID:9007502 Brain Neoplasms ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Brain neoplasm | ClinVar Annotator: match by term: Neoplasm of brain PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9979965 11772827 TP53 tumor protein p53 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22009531 11772827 TP53 tumor protein p53 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15550242 11772827 TP53 tumor protein p53 gene DOID:9007661 Dwarfism ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Short stature PMID:11051239|PMID:11782540|PMID:12826609|PMID:1631137|PMID:16489069|PMID:16818505|PMID:17417627|PMID:17427234|PMID:17606709|PMID:19378321|PMID:1978757|PMID:20013323|PMID:20128691|PMID:20407015|PMID:20522432|PMID:21059199|PMID:21343334|PMID:21519010|PMID:21601526|PMID:22186996|PMID:22265402|PMID:22713868|PMID:22915647|PMID:23172776|PMID:23246812|PMID:23667202|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24573247|PMID:24603336|PMID:24651015|PMID:25157968|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26787237|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28472496|PMID:28492532|PMID:28724667|PMID:29025599|PMID:29979965|PMID:30224644|PMID:30327374|PMID:31775759|PMID:36988593|PMID:8099841|PMID:8425176|PMID:8527048|PMID:9242456|PMID:9598730|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:9007701 Central Nervous System Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 11772827 TP53 tumor protein p53 gene DOID:9007715 Endometrial Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7955072 11772827 TP53 tumor protein p53 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3889 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:18317410|REF_RGD_ID:2290554 11772827 TP53 tumor protein p53 gene DOID:9007964 Arsenic Poisoning ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18621066|PMID:19203779 11772827 TP53 tumor protein p53 gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:10432928|PMID:10589545|PMID:10922393|PMID:11668501|PMID:12826609|PMID:14559903|PMID:15037740|PMID:1565143|PMID:15977174|PMID:16312222|PMID:16861262|PMID:17015838|PMID:17308077|PMID:17390010|PMID:17606709|PMID:18307025|PMID:19101993|PMID:19367569|PMID:19556618|PMID:20028212|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20407015|PMID:20805372|PMID:21056685|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21514416|PMID:21761402|PMID:22265402|PMID:22887876|PMID:22923379|PMID:23031740|PMID:23259501|PMID:23630318|PMID:24381225|PMID:24487413|PMID:24603336|PMID:24641375|PMID:24702488|PMID:24744791|PMID:25584008|PMID:25741868|PMID:25945745|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26911350|PMID:27328919|PMID:27714481|PMID:27873457|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28492532|PMID:28724667|PMID:28975465|PMID:29070607|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30730202|PMID:30816478|PMID:31300551|PMID:31775759|PMID:32817165|PMID:33300245|PMID:33471991|PMID:36988593|PMID:7887414|PMID:8023157|PMID:8118819|PMID:8242631|PMID:8401536|PMID:8633021|PMID:9242456|PMID:9627118|PMID:9662334 11772827 TP53 tumor protein p53 gene DOID:9008138 Ductal Carcinoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29295717 11772827 TP53 tumor protein p53 gene DOID:9008443 Colorectal Neoplasms ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22983585|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23340422|PMID:23406775|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25294809|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25757876 11772827 TP53 tumor protein p53 gene DOID:9008443 Colorectal Neoplasms ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9493073 11772827 TP53 tumor protein p53 gene DOID:9008828 Li-Fraumeni-Like Syndrome ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Li-fraumeni-like syndrome PMID:10519380|PMID:10922393|PMID:11370630|PMID:11429705|PMID:11782540|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:16401470|PMID:16494995|PMID:16551709|PMID:1679237|PMID:16818505|PMID:17015838|PMID:17311302|PMID:17606709|PMID:18511570|PMID:19012332|PMID:19468865|PMID:19930417|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:20805372|PMID:21059199|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22672556|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24033266|PMID:24122735|PMID:24573247|PMID:24835218|PMID:25157968|PMID:25186627|PMID:2531845|PMID:2554494|PMID:25584008|PMID:25619955|PMID:25741868|PMID:25896519|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26585234|PMID:26619011|PMID:26786923|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27077130|PMID:27276561|PMID:27276934|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28975465|PMID:29581140|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30816478|PMID:32000721|PMID:32475984|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:7791795|PMID:8023157|PMID:8134127|PMID:8164043|PMID:8401536|PMID:8550239|PMID:8718514|PMID:8829627|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9667734|PMID:9839505 11772827 TP53 tumor protein p53 gene DOID:9008939 Breast Neoplasms ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:10064694|PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11222779|PMID:11313981|PMID:11315715|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668501|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15741269|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16033918|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18391940|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:19717094|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23469205|PMID:23538418|PMID:23570263|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23733769|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587 11772827 TP53 tumor protein p53 gene DOID:9008939 Breast Neoplasms ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:24122735|PMID:24256616|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24884479|PMID:24936644|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634208|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26681051|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27153395|PMID:27179933|PMID:27223487|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28271309|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28756477|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31278746|PMID:31300551|PMID:31494577|PMID:31559875|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:33178583|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33635883|PMID:33758026|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9096669|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9839505|PMID:9979965 11772827 TP53 tumor protein p53 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.R72P PMID:18230179|REF_RGD_ID:2290534 11772827 TP53 tumor protein p53 gene DOID:9008952 Breast Cancer, Familial ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:10064694|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10449408|PMID:10486318|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11254385|PMID:11370630|PMID:11403041|PMID:11429705|PMID:11479205|PMID:11756653|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12067251|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12917626|PMID:14559903|PMID:15004724|PMID:15037740|PMID:15221755|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15722483|PMID:15781620|PMID:1581912|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16007150|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16682957|PMID:1679237|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17133269|PMID:17308077|PMID:17311302|PMID:17318340|PMID:17390010|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:18762572|PMID:18818522|PMID:18989156|PMID:19101993|PMID:19127115|PMID:19336573|PMID:19367569|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19756158|PMID:1975675|PMID:1978757|PMID:19881536|PMID:19909015|PMID:19930417|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20504876|PMID:20505364|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21059199|PMID:21080251|PMID:21187651|PMID:21225465|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348641|PMID:21356188|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665182|PMID:21666498|PMID:21672450|PMID:21761402|PMID:21934104|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22203015|PMID:22233476|PMID:22507745|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23175693|PMID:23246812|PMID:23255406|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23580068|PMID:23612969|PMID:23624782|PMID:23630318|PMID:23792586|PMID:23887774|PMID:23894400|PMID:23897043|PMID:24033266|PMID:24076587|PMID:24122735|PMID:24278325|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24641375|PMID:24651012|PMID:24665023|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24729566|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24835218|PMID:24936644|PMID:25123297|PMID:25157968|PMID:25184754|PMID:25186627|PMID:25293557|PMID:25299233|PMID:2531845|PMID:25326637|PMID:25348012|PMID:25490274|PMID:25490678|PMID:25516983|PMID:2554494|PMID:25584008|PMID:25612911|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25787918|PMID:25886176|PMID:25896519|PMID:25925845|PMID:25952993|PMID:25980754|PMID:26000489|PMID:26014290|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26484312|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27059324|PMID:27101868|PMID:27146902|PMID:27153395|PMID:27210295|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27449771|PMID:27463065|PMID:27501770|PMID:27516001|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27726232|PMID:27741277|PMID:27866339|PMID:27895058|PMID:27923552|PMID:27959731|PMID:27993330|PMID:28091804|PMID:28152038|PMID:28230820|PMID:28349240|PMID:28369373 11772827 TP53 tumor protein p53 gene DOID:9008952 Breast Cancer, Familial ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:28453743|PMID:28472496|PMID:28477317|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28573494|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29059199|PMID:29070607|PMID:29079597|PMID:29300620|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30067863|PMID:30076369|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30588330|PMID:30607672|PMID:30653764|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32554555|PMID:32566746|PMID:32658383|PMID:33208383|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33818021|PMID:34299313|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7706467|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7887414|PMID:7966399|PMID:7978053|PMID:7981076|PMID:8023157|PMID:8062826|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242752|PMID:8308926|PMID:8378080|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8675009|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9067756|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9470817|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9839505|PMID:9891044 11772827 TP53 tumor protein p53 gene DOID:9119 acute myeloid leukemia ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:10411893|PMID:10432928|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11315715|PMID:11370630|PMID:11403041|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12567188|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15580553|PMID:15607980|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:17875924|PMID:18307025|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:19101993|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19521721|PMID:19556618|PMID:19681600|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19930417|PMID:1999338|PMID:20013323|PMID:20017945|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21672450|PMID:21761402|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22540896|PMID:22553421|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22862161|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23161690|PMID:23172776|PMID:23196062|PMID:23246812|PMID:23265383|PMID:23334668|PMID:23538418|PMID:23612969|PMID:23624782|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23887774|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26066407|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27022024|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27501770|PMID:27533082|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28271309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31559875|PMID:31748977|PMID:31775759|PMID:31882575 11772827 TP53 tumor protein p53 gene DOID:9119 acute myeloid leukemia ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:32000721|PMID:32295079|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33635883|PMID:35938033|PMID:36988593|PMID:7732013|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8336941|PMID:8344492|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8829653|PMID:9047394|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9662334|PMID:9825943|PMID:9891044 11772827 TP53 tumor protein p53 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:25412846|REF_RGD_ID:11057925 11772827 TP53 tumor protein p53 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:mutation: : PMID:24836762|REF_RGD_ID:11073714 11772827 TP53 tumor protein p53 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:25573287|REF_RGD_ID:11075071 11772827 TP53 tumor protein p53 gene DOID:9256 colorectal cancer ISO RGD:70502 D RGD:7240710 20200226 OMIM 11772827 TP53 tumor protein p53 gene DOID:9256 colorectal cancer ISO RGD:70502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10411893|PMID:10486318|PMID:10519380|PMID:10554037|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11370630|PMID:11479205|PMID:11782540|PMID:12007217|PMID:12509279|PMID:12524418|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:15004724|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16007150|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17015838|PMID:17311302|PMID:17540308|PMID:17606709|PMID:17636407|PMID:17727479|PMID:18391940|PMID:18511570|PMID:19012332|PMID:19127115|PMID:19468865|PMID:19556618|PMID:19881536|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20516128|PMID:20522432|PMID:20658636|PMID:20689556|PMID:20693561|PMID:21059199|PMID:21187651|PMID:21225465|PMID:21305319|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22203015|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23538418|PMID:23667851|PMID:23792586|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24594805|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24803582|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25348012|PMID:25584008|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27059324|PMID:27077130|PMID:27146902|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28503720|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29753700|PMID:29770616|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30607672|PMID:30816478|PMID:31775759|PMID:32000721|PMID:32019277|PMID:32566746|PMID:33309985|PMID:33397043|PMID:33818021|PMID:3471991|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8134126|PMID:8164043|PMID:8401536|PMID:8423216|PMID:8550239|PMID:8718514|PMID:8825920|PMID:8829627|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9667734 11772827 TP53 tumor protein p53 gene DOID:9256 colorectal cancer ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519380|PMID:10554037|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16007150|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17727479|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21059199|PMID:21187651|PMID:21225465|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22203015|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667851|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24594805|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24803582|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25186627|PMID:25348012|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27059324|PMID:27077130|PMID:27146902|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28503720|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29753700|PMID:29770616|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30607672|PMID:30816478|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32475984|PMID:32566746|PMID:32658383|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33818021|PMID:34299313|PMID:3471991|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 11772827 TP53 tumor protein p53 gene DOID:9256 colorectal cancer ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519380|PMID:10554037|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16007150|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17727479|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21059199|PMID:21187651|PMID:21225465|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22203015|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667851|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24594805|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24803582|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25186627|PMID:25348012|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27059324|PMID:27077130|PMID:27146902|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28503720|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29753700|PMID:29770616|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30607672|PMID:30816478|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32475984|PMID:32566746|PMID:32658383|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33818021|PMID:34299313|PMID:3471991|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 11772827 TP53 tumor protein p53 gene DOID:9256 colorectal cancer no_association ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.P72R (human) PMID:29286614|REF_RGD_ID:14995500 11772827 TP53 tumor protein p53 gene DOID:9256 colorectal cancer treatment ISO RGD:3889 D RGD:9068941 20200609 RGD PMID:29546074|REF_RGD_ID:14995449 11772827 TP53 tumor protein p53 gene DOID:9261 nasopharynx carcinoma ISO RGD:70502 D RGD:7240710 20180130 OMIM 11772827 TP53 tumor protein p53 gene DOID:9261 nasopharynx carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Nasopharyngeal carcinoma PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:1631151|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:33372952|PMID:34299313|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8344492|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 11772827 TP53 tumor protein p53 gene DOID:9538 multiple myeloma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:10064694|PMID:10411893|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15607980|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15925506|PMID:15951970|PMID:15993273|PMID:16258005|PMID:1631137|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:1673792|PMID:16793544|PMID:16818505|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17308077|PMID:1737852|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19147582|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19930417|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20195489|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20878954|PMID:21059199|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22983585|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23264849|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23667202|PMID:23713777|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25293557|PMID:25294809|PMID:25339994|PMID:25428789|PMID:25503501|PMID:25504633|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25952993|PMID:26014290|PMID:26022348|PMID:26230955|PMID:26332594|PMID:26467025|PMID:26534844|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26781615|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27533082|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30306255|PMID:30322717|PMID:30327374|PMID:30583724|PMID:30630526|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32817165|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:36988593|PMID:7651740|PMID:7732013|PMID:7737263|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8364550|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:9020384|PMID:9096669|PMID:9157982|PMID:9242456|PMID:9290701|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9635828|PMID:9667734|PMID:9825943 11772827 TP53 tumor protein p53 gene DOID:9538 multiple myeloma disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R72P(human) PMID:24611901|REF_RGD_ID:11073716 11772827 TP53 tumor protein p53 gene DOID:9538 multiple myeloma disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:22261445|REF_RGD_ID:11073728 11772827 TP53 tumor protein p53 gene DOID:9538 multiple myeloma treatment ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:12745272|REF_RGD_ID:11075073 11772827 TP53 tumor protein p53 gene DOID:9655 oral mucosa leukoplakia ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:oral mucosa: PMID:23776093|REF_RGD_ID:8547855 11772827 TP53 tumor protein p53 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23334668 11772827 Tp53 tumor protein p53 gene DOID:9655 oral mucosa leukoplakia ISO RGD:3889 D RGD:9068941 20200609 RGD protein:increased expression:tongue: PMID:12167434|REF_RGD_ID:8547871 11772845 PSENEN presenilin enhancer, gamma-secretase subunit gene DOID:0110222 Brugada syndrome 5 ISO RGD:1347919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11772845 PSENEN presenilin enhancer, gamma-secretase subunit gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1347919 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11772845 PSENEN presenilin enhancer, gamma-secretase subunit gene DOID:543 dystonia ISO RGD:1347919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11772845 PSENEN presenilin enhancer, gamma-secretase subunit gene DOID:630 genetic disease ISO RGD:1347919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772845 PSENEN presenilin enhancer, gamma-secretase subunit gene DOID:9001644 Familial Acne Inversa 2 ISO RGD:1347919 D RGD:7240710 20210721 OMIM 11772845 PSENEN presenilin enhancer, gamma-secretase subunit gene DOID:9001644 Familial Acne Inversa 2 ISO RGD:1347919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acne inversa, familial, 2 PMID:20929727|PMID:21412258|PMID:25741868|PMID:27900998|PMID:28287404|PMID:28492532|PMID:28601418 11772845 PSENEN presenilin enhancer, gamma-secretase subunit gene DOID:9008895 Familial Hidradenitis Suppurativa ISO RGD:1347919 D RGD:9068941 20210723 CTD CTD Direct Evidence: marker/mechanism PMID:20929727 11772853 KLHDC7B kelch domain containing 7B gene DOID:0060041 autism spectrum disorder ISO RGD:1602443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 11772853 KLHDC7B kelch domain containing 7B gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1602443 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 11772853 KLHDC7B kelch domain containing 7B gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1602443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11772853 KLHDC7B kelch domain containing 7B gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1602443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 11772853 KLHDC7B kelch domain containing 7B gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1602443 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 11772853 KLHDC7B kelch domain containing 7B gene DOID:10581 metachromatic leukodystrophy ISO RGD:1602443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 11772853 KLHDC7B kelch domain containing 7B gene DOID:1059 intellectual disability ISO RGD:1602443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11772853 KLHDC7B kelch domain containing 7B gene DOID:630 genetic disease ISO RGD:1602443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772858 HAS3 hyaluronan synthase 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1350380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11772858 HAS3 hyaluronan synthase 3 gene DOID:630 genetic disease ISO RGD:1350380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772858 HAS3 hyaluronan synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:628656 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:19915162|REF_RGD_ID:9588633 11772858 HAS3 hyaluronan synthase 3 gene DOID:9452 fatty liver disease ISO RGD:1350380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27042213 11772881 ALDH1L2 aldehyde dehydrogenase 1 family member L2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1551620 D RGD:9068941 20220825 MouseDO OMIM:613282 | OMIM:613387 11772881 ALDH1L2 aldehyde dehydrogenase 1 family member L2 gene DOID:0080600 COVID-19 ISO RGD:1345617 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11772881 ALDH1L2 aldehyde dehydrogenase 1 family member L2 gene DOID:630 genetic disease ISO RGD:1345617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772881 ALDH1L2 aldehyde dehydrogenase 1 family member L2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11772881 ALDH1L2 aldehyde dehydrogenase 1 family member L2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11772907 MIEN1 migration and invasion enhancer 1 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1315438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 11772907 MIEN1 migration and invasion enhancer 1 gene DOID:630 genetic disease ISO RGD:1315438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772920 ADORA3 adenosine A3 receptor gene DOID:0080600 COVID-19 ISO RGD:735600 D RGD:9068941 20230427 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11772920 ADORA3 adenosine A3 receptor gene DOID:326 ischemia ISO RGD:735600 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:7774659 11772920 ADORA3 adenosine A3 receptor gene DOID:5844 myocardial infarction ISO RGD:735600 D RGD:9068941 20230427 CTD CTD Direct Evidence: therapeutic PMID:12160945|PMID:20132822 11772920 ADORA3 adenosine A3 receptor gene DOID:630 genetic disease ISO RGD:735600 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772920 ADORA3 adenosine A3 receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735600 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11772941 NMT1 N-myristoyltransferase 1 gene DOID:630 genetic disease ISO RGD:1352076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772958 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:733467 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11772958 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:0050476 Barth syndrome ISO RGD:733467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11772958 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:733467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11772958 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:0050873 follicular lymphoma ISO RGD:733467 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26691987 11772958 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11772958 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:733467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 11772958 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:0112002 immunodeficiency 47 ISO RGD:733467 D RGD:7240710 20190315 OMIM 11772958 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:0112002 immunodeficiency 47 ISO RGD:733467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 47 PMID:25741868|PMID:27231034|PMID:28492532|PMID:28688840|PMID:29192153|PMID:29396028|PMID:32058063|PMID:32216104 11772958 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:733467 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11772958 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:733467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11772958 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:733467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11772958 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:1227 neutropenia ISO RGD:733467 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:28492532 11772958 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:12849 autistic disorder ISO RGD:733467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11772958 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:13628 favism ISO RGD:733467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11772958 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:2729 dyskeratosis congenita ISO RGD:733467 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11772958 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:607 paraplegia ISO RGD:733467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11772958 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:630 genetic disease ISO RGD:733467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11772958 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:9001895 Immunoglobulin A Deficiency 2 ISO RGD:733467 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunoglobulin A deficiency 2 PMID:25741868|PMID:28492532 11772958 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:9002720 Splenomegaly ISO RGD:733467 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11772976 MCEMP1 mast cell expressed membrane protein 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1604975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11772976 MCEMP1 mast cell expressed membrane protein 1 gene DOID:0080600 COVID-19 ISO RGD:1604975 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11772976 MCEMP1 mast cell expressed membrane protein 1 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1604975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 11772976 MCEMP1 mast cell expressed membrane protein 1 gene DOID:630 genetic disease ISO RGD:1604975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772986 PRRG1 proline rich and Gla domain 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11772986 PRRG1 proline rich and Gla domain 1 gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1350141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 11772986 PRRG1 proline rich and Gla domain 1 gene DOID:12849 autistic disorder ISO RGD:1350141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11772986 PRRG1 proline rich and Gla domain 1 gene DOID:630 genetic disease ISO RGD:1350141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11772986 PRRG1 proline rich and Gla domain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11772986 PRRG1 proline rich and Gla domain 1 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1350141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 11773003 PLEKHG1 pleckstrin homology and RhoGEF domain containing G1 gene DOID:10283 prostate cancer ISO RGD:1321123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11773003 PLEKHG1 pleckstrin homology and RhoGEF domain containing G1 gene DOID:630 genetic disease ISO RGD:1321123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773003 PLEKHG1 pleckstrin homology and RhoGEF domain containing G1 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1321123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 11773026 SLAIN2 SLAIN motif family member 2 gene DOID:630 genetic disease ISO RGD:1602874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773039 ZNF625 zinc finger protein 625 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1352371 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11773039 ZNF625 zinc finger protein 625 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1352371 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11773039 ZNF625 zinc finger protein 625 gene DOID:0111254 glutaric acidemia I ISO RGD:1352371 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11773039 ZNF625 zinc finger protein 625 gene DOID:3413 alpha-mannosidosis ISO RGD:1352371 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11773039 ZNF625 zinc finger protein 625 gene DOID:630 genetic disease ISO RGD:1352371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773055 GRHPR glyoxylate and hydroxypyruvate reductase gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1318860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11773055 GRHPR glyoxylate and hydroxypyruvate reductase gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1318860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis PMID:25741868|PMID:28492532 11773055 GRHPR glyoxylate and hydroxypyruvate reductase gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1318860 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11773055 GRHPR glyoxylate and hydroxypyruvate reductase gene DOID:0080600 COVID-19 ISO RGD:1318860 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11773055 GRHPR glyoxylate and hydroxypyruvate reductase gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1318860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11773055 GRHPR glyoxylate and hydroxypyruvate reductase gene DOID:0111671 primary hyperoxaluria type 2 ISO RGD:1318860 D RGD:7240710 20180130 OMIM 11773055 GRHPR glyoxylate and hydroxypyruvate reductase gene DOID:0111671 primary hyperoxaluria type 2 ISO RGD:1318860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II PMID:10484776|PMID:11030416|PMID:11477177|PMID:12185464|PMID:14635115|PMID:14987413|PMID:15327387|PMID:16199547|PMID:16306119|PMID:17510093|PMID:17576681|PMID:18560364|PMID:19296982|PMID:20301742|PMID:24033266|PMID:24116921|PMID:25410531|PMID:25525159|PMID:25629080|PMID:25644115|PMID:25741868|PMID:26484032|PMID:28492532|PMID:28553045|PMID:28569194|PMID:28893421|PMID:31685312|PMID:9536098 11773055 GRHPR glyoxylate and hydroxypyruvate reductase gene DOID:12679 nephrocalcinosis ISO RGD:1318860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:10484776|PMID:11030416|PMID:12185464|PMID:14635115|PMID:15327387|PMID:17576681|PMID:18560364|PMID:24033266|PMID:24116921|PMID:25644115|PMID:25741868|PMID:28492532|PMID:28893421|PMID:9536098 11773055 GRHPR glyoxylate and hydroxypyruvate reductase gene DOID:2977 primary hyperoxaluria ISO RGD:1318860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:11030416|PMID:14635115|PMID:24116921|PMID:25629080|PMID:25644115|PMID:25741868|PMID:28492532|PMID:31685312 11773055 GRHPR glyoxylate and hydroxypyruvate reductase gene DOID:630 genetic disease ISO RGD:1318860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11773055 GRHPR glyoxylate and hydroxypyruvate reductase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11773055 GRHPR glyoxylate and hydroxypyruvate reductase gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11773055 GRHPR glyoxylate and hydroxypyruvate reductase gene DOID:9870 galactosemia ISO RGD:1318860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11773069 MAPT microtubule associated protein tau gene DOID:0050700 cardiomyopathy ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29068127 11773069 MAPT microtubule associated protein tau gene DOID:0050880 Koolen de Vries syndrome ISO RGD:736496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KANSL1-Related Intellectual Disability Syndrome | ClinVar Annotator: match by term: Koolen-de Vries syndrome PMID:18628315|PMID:21094706|PMID:25741868|PMID:26467025|PMID:28492532 11773069 MAPT microtubule associated protein tau gene DOID:0050888 syndromic intellectual disability ISO RGD:736496 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:26467025|PMID:28492532 11773069 MAPT microtubule associated protein tau gene DOID:0060224 atrial fibrillation ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 11773069 MAPT microtubule associated protein tau gene DOID:0060892 late onset Parkinson's disease ISO RGD:736496 D RGD:7240710 20180130 OMIM 11773069 MAPT microtubule associated protein tau gene DOID:0060892 late onset Parkinson's disease ISO RGD:736496 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary late onset Parkinson disease | ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:25741868|PMID:26467025|PMID:28492532 11773069 MAPT microtubule associated protein tau gene DOID:0080855 Parkinsonism ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10802785|PMID:19458322 11773069 MAPT microtubule associated protein tau gene DOID:0080855 Parkinsonism treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:27228974|REF_RGD_ID:13801017 11773069 MAPT microtubule associated protein tau gene DOID:0081292 traumatic brain injury ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:26484783|PMID:26729399|PMID:28412141|REF_RGD_ID:13800902|REF_RGD_ID:13800909|REF_RGD_ID:13800912 11773069 MAPT microtubule associated protein tau gene DOID:0081292 traumatic brain injury treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:25771151|REF_RGD_ID:13800917 11773069 MAPT microtubule associated protein tau gene DOID:10283 prostate cancer ISO RGD:736496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11773069 MAPT microtubule associated protein tau gene DOID:1059 intellectual disability ISO RGD:736496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome PMID:25741868|PMID:26467025|PMID:28492532 11773069 MAPT microtubule associated protein tau gene DOID:10652 Alzheimer's disease ISO RGD:736496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:30279455 11773069 MAPT microtubule associated protein tau gene DOID:10652 Alzheimer's disease no_association ISO RGD:736496 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:promoter:rs242557 (human) PMID:19308965|REF_RGD_ID:8158097 11773069 MAPT microtubule associated protein tau gene DOID:10652 Alzheimer's disease onset ISO RGD:736496 D RGD:9068941 20200609 RGD DNA:SNP, haplotypes:promoter:rs242557 (human) PMID:23116876|REF_RGD_ID:8158105 11773069 MAPT microtubule associated protein tau gene DOID:10652 Alzheimer's disease onset ISO RGD:736496 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.R406W(human) PMID:18587238|REF_RGD_ID:10412701 11773069 MAPT microtubule associated protein tau gene DOID:10652 Alzheimer's disease treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:27060945|PMID:28342971|REF_RGD_ID:13800904|REF_RGD_ID:13800908 11773069 MAPT microtubule associated protein tau gene DOID:10652 Alzheimer's disease treatment ISO RGD:736496 D RGD:9068941 20200609 RGD PMID:19252918|REF_RGD_ID:10412704 11773069 MAPT microtubule associated protein tau gene DOID:11162 respiratory failure ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14595660 11773069 MAPT microtubule associated protein tau gene DOID:11870 Pick's disease ISO RGD:736496 D RGD:7240710 20180130 OMIM 11773069 MAPT microtubule associated protein tau gene DOID:11870 Pick's disease ISO RGD:736496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pick Disease of the Brain | ClinVar Annotator: match by term: Pick disease PMID:10604746|PMID:11032905|PMID:11117542|PMID:11601501|PMID:11891833|PMID:18067537|PMID:23043292|PMID:25741868|PMID:26467025|PMID:27582388|PMID:27641626|PMID:27802239|PMID:28492532|PMID:30090657 11773069 MAPT microtubule associated protein tau gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:736496 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:29368621|PMID:30309804|PMID:31541342|REF_RGD_ID:127284880|REF_RGD_ID:127284881|REF_RGD_ID:127284889 11773069 MAPT microtubule associated protein tau gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:736496 D RGD:9068941 20210625 RGD protein:increased expression:CSF, serum (human) PMID:27929120|REF_RGD_ID:127284887 11773069 MAPT microtubule associated protein tau gene DOID:1289 neurodegenerative disease ISO RGD:736496 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:9789048 11773069 MAPT microtubule associated protein tau gene DOID:1307 dementia ISO RGD:736496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dementia PMID:10202939|PMID:10329720|PMID:10443890|PMID:10446810|PMID:11255441|PMID:11402146|PMID:11641718|PMID:11708988|PMID:11912108|PMID:11971081|PMID:11971082|PMID:12847166|PMID:14755449|PMID:15372253|PMID:17923640|PMID:18525295|PMID:19365643|PMID:19766248|PMID:19786698|PMID:19884572|PMID:19914360|PMID:20045477|PMID:23680655|PMID:23885714|PMID:25683866|PMID:25741868|PMID:26136155|PMID:26467025|PMID:27594586|PMID:28097206|PMID:28492532|PMID:7783864|PMID:7936288|PMID:8940276|PMID:9088499|PMID:9392579|PMID:9641683 11773069 MAPT microtubule associated protein tau gene DOID:1307 dementia disease_progression ISO RGD:736496 D RGD:9068941 20200609 RGD DNA:haplotype: : PMID:20930301|REF_RGD_ID:10412700 11773069 MAPT microtubule associated protein tau gene DOID:14330 Parkinson's disease ISO RGD:736496 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease PMID:25741868|PMID:26467025|PMID:28492532 11773069 MAPT microtubule associated protein tau gene DOID:14330 Parkinson's disease susceptibility ISO RGD:736496 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs8070723) (human) PMID:22221882|REF_RGD_ID:8158107 11773069 MAPT microtubule associated protein tau gene DOID:1561 cognitive disorder ISO RGD:69329 D RGD:9068941 20200609 RGD associated with Hypothermia PMID:25782579|REF_RGD_ID:13800916 11773069 MAPT microtubule associated protein tau gene DOID:1561 cognitive disorder ISO RGD:69329 D RGD:9068941 20200609 RGD associated with Hypoxia PMID:24993525|REF_RGD_ID:13801018 11773069 MAPT microtubule associated protein tau gene DOID:1561 cognitive disorder ISO RGD:69329 D RGD:9068941 20200609 RGD associated with Insulin Resistance PMID:24335173|REF_RGD_ID:13800925 11773069 MAPT microtubule associated protein tau gene DOID:1561 cognitive disorder ISO RGD:69329 D RGD:9068941 20200609 RGD associated with hypothyroidism PMID:24978200|REF_RGD_ID:13800922 11773069 MAPT microtubule associated protein tau gene DOID:1561 cognitive disorder ISO RGD:69329 D RGD:9068941 20200609 RGD associated with obesity PMID:25683673|REF_RGD_ID:13801008 11773069 MAPT microtubule associated protein tau gene DOID:1561 cognitive disorder ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24556215|PMID:26945731 11773069 MAPT microtubule associated protein tau gene DOID:1561 cognitive disorder treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:24484683|REF_RGD_ID:13800924 11773069 MAPT microtubule associated protein tau gene DOID:1612 breast cancer disease_progression ISO RGD:736496 D RGD:9068941 20200609 RGD PMID:18668363|REF_RGD_ID:8158093 11773069 MAPT microtubule associated protein tau gene DOID:1826 epilepsy treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:28595035|REF_RGD_ID:13800901 11773069 MAPT microtubule associated protein tau gene DOID:2030 anxiety disorder ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29860433 11773069 MAPT microtubule associated protein tau gene DOID:2316 brain ischemia ISO RGD:69329 D RGD:9068941 20200609 RGD protein:increased phosphorylation PMID:15353210|REF_RGD_ID:1599927 11773069 MAPT microtubule associated protein tau gene DOID:3328 temporal lobe epilepsy ISO RGD:736496 D RGD:9068941 20200609 RGD PMID:28595035|REF_RGD_ID:13800901 11773069 MAPT microtubule associated protein tau gene DOID:3525 middle cerebral artery infarction ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:28886009|REF_RGD_ID:13800886 11773069 MAPT microtubule associated protein tau gene DOID:3525 middle cerebral artery infarction ISO RGD:736497 D RGD:9068941 20200609 RGD PMID:28886009|REF_RGD_ID:13800886 11773069 MAPT microtubule associated protein tau gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:25903928|REF_RGD_ID:13800913 11773069 MAPT microtubule associated protein tau gene DOID:4752 multiple system atrophy ISO RGD:736496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple system atrophy PMID:25741868 11773069 MAPT microtubule associated protein tau gene DOID:4990 essential tremor no_association ISO RGD:736496 D RGD:9068941 20200609 RGD DNA:SNP: :rs1052553 (human) PMID:22911817|REF_RGD_ID:8158098 11773069 MAPT microtubule associated protein tau gene DOID:630 genetic disease ISO RGD:736496 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10318930|PMID:10624829|PMID:12615641|PMID:15376481|PMID:17071927|PMID:19659892|PMID:25741868|PMID:25937274|PMID:26467025|PMID:27975259|PMID:28492532|PMID:30279455 11773069 MAPT microtubule associated protein tau gene DOID:678 progressive supranuclear palsy ISO RGD:736496 D RGD:7240710 20180130 OMIM 11773069 MAPT microtubule associated protein tau gene DOID:678 progressive supranuclear palsy ISO RGD:736496 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Progressive supranuclear ophthalmoplegia | ClinVar Annotator: match by term: Supranuclear palsy, progressive, 1 PMID:10100642|PMID:10214944|PMID:10219785|PMID:10627302|PMID:10767321|PMID:10821687|PMID:10932182|PMID:11013246|PMID:11115852|PMID:11255441|PMID:11402146|PMID:11756436|PMID:12473404|PMID:14595660|PMID:15489396|PMID:15831501|PMID:16157753|PMID:17526496|PMID:19458322|PMID:20561037|PMID:22022446|PMID:22723997|PMID:2273997|PMID:25319522|PMID:25592136|PMID:25741868|PMID:26220942|PMID:26269332|PMID:26467025|PMID:26519432|PMID:27439681|PMID:28268100|PMID:28492532|PMID:30528841|PMID:32843152|PMID:8673924|PMID:9629852|PMID:9641683|PMID:9736786|PMID:9789048 11773069 MAPT microtubule associated protein tau gene DOID:678 progressive supranuclear palsy onset ISO RGD:736496 D RGD:9068941 20200609 RGD PMID:16839689|REF_RGD_ID:8158099 11773069 MAPT microtubule associated protein tau gene DOID:680 tauopathy ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10604746|PMID:11889249|PMID:14595660|PMID:24556215|PMID:27569447 11773069 MAPT microtubule associated protein tau gene DOID:680 tauopathy ISO RGD:736496 D RGD:9068941 20200609 RGD PMID:28721361|REF_RGD_ID:13800888 11773069 MAPT microtubule associated protein tau gene DOID:680 tauopathy treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:27998769|REF_RGD_ID:13800905 11773069 MAPT microtubule associated protein tau gene DOID:680 tauopathy treatment ISO RGD:736496 D RGD:9068941 20200609 RGD PMID:22874558|REF_RGD_ID:8158094 11773069 MAPT microtubule associated protein tau gene DOID:684 hepatocellular carcinoma ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11773069 MAPT microtubule associated protein tau gene DOID:8725 vascular dementia treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:27118553|REF_RGD_ID:13792766 11773069 MAPT microtubule associated protein tau gene DOID:8927 learning disability ISO RGD:736496 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:24556215 11773069 MAPT microtubule associated protein tau gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:22052241|REF_RGD_ID:8158113 11773069 MAPT microtubule associated protein tau gene DOID:9000794 Sporadic Creutzfeldt-Jakob Disease ISO RGD:736496 D RGD:9068941 20210625 RGD protein:increased expression:CSF, serum (human) PMID:27929120|REF_RGD_ID:127284887 11773069 MAPT microtubule associated protein tau gene DOID:9001366 Psychomotor Agitation ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24556215 11773069 MAPT microtubule associated protein tau gene DOID:9001981 Weight Loss ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24556215 11773069 MAPT microtubule associated protein tau gene DOID:9002644 Premature Aging ISO RGD:736497 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:brain: PMID:16171847|REF_RGD_ID:10412708 11773069 MAPT microtubule associated protein tau gene DOID:9002720 Splenomegaly ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27117003 11773069 MAPT microtubule associated protein tau gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:15494405|REF_RGD_ID:1358431 11773069 MAPT microtubule associated protein tau gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:25665755|REF_RGD_ID:13782373 11773069 MAPT microtubule associated protein tau gene DOID:9004657 Weight Gain ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29203278 11773069 MAPT microtubule associated protein tau gene DOID:9004866 Ataxia ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31783120 11773069 MAPT microtubule associated protein tau gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:28400135|REF_RGD_ID:13800903 11773069 MAPT microtubule associated protein tau gene DOID:9005725 Iron Overload treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:27403880|REF_RGD_ID:13800907 11773069 MAPT microtubule associated protein tau gene DOID:9006041 Osteoarthritis, Hip ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30664745 11773069 MAPT microtubule associated protein tau gene DOID:9006205 Animal Disease Models ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24556215 11773069 MAPT microtubule associated protein tau gene DOID:9007402 Gliosis ISO RGD:736496 D RGD:9068941 20200609 RGD PMID:19155101|REF_RGD_ID:8158112 11773069 MAPT microtubule associated protein tau gene DOID:9008023 Memory Disorders ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:15524282|REF_RGD_ID:1358432 11773069 MAPT microtubule associated protein tau gene DOID:9008023 Memory Disorders ISO RGD:736496 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:12368474|PMID:24556215|PMID:29203278|PMID:29860433 11773069 MAPT microtubule associated protein tau gene DOID:9008394 Drug-Induced Dyskinesia treatment ISO RGD:69329 D RGD:9068941 20200609 RGD associated with Parkinsonian Disorders PMID:25511986|REF_RGD_ID:13800920 11773069 MAPT microtubule associated protein tau gene DOID:9008534 Progressive Supranuclear Palsy Atypical ISO RGD:736496 D RGD:7240710 20180130 OMIM 11773069 MAPT microtubule associated protein tau gene DOID:9008534 Progressive Supranuclear Palsy Atypical ISO RGD:736496 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Atypical PSP PMID:25741868|PMID:26467025|PMID:28492532 11773069 MAPT microtubule associated protein tau gene DOID:9255 frontotemporal dementia ISO RGD:736496 D RGD:7240710 20180130 OMIM 11773069 MAPT microtubule associated protein tau gene DOID:9255 frontotemporal dementia ISO RGD:736496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FTLD WITH TAU INCLUSIONS | ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia PMID:10076890|PMID:10100642|PMID:10202939|PMID:10208578|PMID:10214944|PMID:10219785|PMID:10318930|PMID:10329720|PMID:10374757|PMID:10412802|PMID:10443890|PMID:10446810|PMID:10489057|PMID:10514099|PMID:10553987|PMID:10604746|PMID:10624829|PMID:10627302|PMID:10767321|PMID:10775534|PMID:10797541|PMID:10802785|PMID:10820221|PMID:10821687|PMID:10822460|PMID:10932182|PMID:11013246|PMID:11032905|PMID:11071507|PMID:11102510|PMID:11115852|PMID:11117541|PMID:11117542|PMID:11117553|PMID:11159174|PMID:11255441|PMID:11278002|PMID:11402146|PMID:11456301|PMID:11641718|PMID:11708988|PMID:11756436|PMID:11756496|PMID:11889249|PMID:11891833|PMID:11912108|PMID:11921059|PMID:11971081|PMID:11971082|PMID:12325083|PMID:12368474|PMID:12473404|PMID:12473774|PMID:12509859|PMID:12615641|PMID:12722177|PMID:12796837|PMID:12847166|PMID:12876142|PMID:1416801|PMID:14517953|PMID:14568818|PMID:14755449|PMID:15178938|PMID:15178940|PMID:15365985|PMID:15372253|PMID:15376481|PMID:15489396|PMID:15831501|PMID:15883319|PMID:16219306|PMID:16240366|PMID:16416390|PMID:16477083|PMID:16495230|PMID:16503405|PMID:17071927|PMID:17526496|PMID:17576681|PMID:17923640|PMID:18067537|PMID:18093153|PMID:18284428|PMID:18525295|PMID:18587238|PMID:18628315|PMID:18803694|PMID:18851693|PMID:18854867|PMID:18992292|PMID:19091059|PMID:19263483|PMID:19304664|PMID:19365643|PMID:19458322|PMID:19659892|PMID:19766248|PMID:19786698|PMID:19884572|PMID:19914360|PMID:20045477|PMID:20377816|PMID:20561037|PMID:20598713|PMID:20634584|PMID:21094706|PMID:21176711|PMID:21339331|PMID:21343707|PMID:21344240|PMID:21849646|PMID:22022446|PMID:22118943|PMID:22312439|PMID:22556362|PMID:22595371|PMID:22723997|PMID:2273997|PMID:22787795|PMID:22818528|PMID:22906081|PMID:23043292|PMID:23047372|PMID:23053136|PMID:23105105|PMID:23338682|PMID:23383383|PMID:23518664|PMID:23680655|PMID:23692670|PMID:23727082|PMID:23752245|PMID:23881933|PMID:23885714|PMID:23990795|PMID:24018212|PMID:24081456|PMID:24150109|PMID:25319522|PMID:25466404|PMID:25592136|PMID:25604855|PMID:25617006|PMID:25671699|PMID:25683866|PMID:25741868|PMID:25937274|PMID:25942996|PMID:26028272|PMID:26136155|PMID:26200045|PMID:26220942|PMID:26269332|PMID:26295349|PMID:26297556|PMID:26333800|PMID:26426266|PMID:26467025|PMID:26519432|PMID:26601740|PMID:26931567|PMID:27082848|PMID:27094865|PMID:27439681|PMID:27582388|PMID:27594586|PMID:27606344|PMID:27641626|PMID:27776828|PMID:27802239|PMID:27975259|PMID:28097206|PMID:28130473|PMID:28268100|PMID:28334843|PMID:28462717|PMID:28492532|PMID:28923025|PMID:29091718|PMID:29253099|PMID:29525180|PMID:30090657|PMID:30279455|PMID:30528841|PMID:31059154|PMID:31404212|PMID:31542321|PMID:31836585|PMID:32171587|PMID:32843152|PMID:33580635|PMID:34274155|PMID:7783864|PMID:7936288|PMID:7977375|PMID:8673924|PMID:8926492|PMID:8940276|PMID:9088499|PMID:9382467|PMID:9392579|PMID:9536098|PMID:9629852|PMID:9636220|PMID:9641683|PMID:9736786|PMID:9789048|PMID:9824291|PMID:9973279 11773069 MAPT microtubule associated protein tau gene DOID:9255 frontotemporal dementia no_association ISO RGD:736496 D RGD:9068941 20200609 RGD DNA:haplotype PMID:17386961|REF_RGD_ID:8158108 11773069 MAPT microtubule associated protein tau gene DOID:9970 obesity ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:25257559|REF_RGD_ID:13800921 11773095 IDE insulin degrading enzyme gene DOID:0050850 diabetic encephalopathy ISO RGD:732801 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:27306699|REF_RGD_ID:13792796 11773095 IDE insulin degrading enzyme gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:2861 D RGD:9068941 20200609 RGD PMID:26576191|REF_RGD_ID:13792804 11773095 IDE insulin degrading enzyme gene DOID:10652 Alzheimer's disease ISO RGD:732801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17192785 11773095 IDE insulin degrading enzyme gene DOID:10652 Alzheimer's disease ISO RGD:732801 D RGD:9068941 20200609 RGD PMID:28164769|REF_RGD_ID:13792824 11773095 IDE insulin degrading enzyme gene DOID:10652 Alzheimer's disease ISO RGD:732801 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:26963025|REF_RGD_ID:13792798 11773095 IDE insulin degrading enzyme gene DOID:10652 Alzheimer's disease ISO RGD:732802 D RGD:9068941 20200609 RGD PMID:12634421|REF_RGD_ID:737718 11773095 IDE insulin degrading enzyme gene DOID:10652 Alzheimer's disease treatment ISO RGD:2861 D RGD:9068941 20200609 RGD PMID:28157092|PMID:28553348|PMID:29948724|REF_RGD_ID:13792792|REF_RGD_ID:13792800|REF_RGD_ID:13792829 11773095 IDE insulin degrading enzyme gene DOID:10652 Alzheimer's disease treatment ISO RGD:2861 D RGD:9068941 20200609 RGD associated with Insulin Resistance PMID:28447730|REF_RGD_ID:13792793 11773095 IDE insulin degrading enzyme gene DOID:10652 Alzheimer's disease treatment ISO RGD:732802 D RGD:9068941 20200609 RGD PMID:30224067|REF_RGD_ID:13792790 11773095 IDE insulin degrading enzyme gene DOID:630 genetic disease ISO RGD:732801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773095 IDE insulin degrading enzyme gene DOID:9002775 Cognitive Dysfunction treatment ISO RGD:732802 D RGD:9068941 20200609 RGD associated with obesity PMID:27102787|REF_RGD_ID:13792826 11773095 IDE insulin degrading enzyme gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2861 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex PMID:29940507|REF_RGD_ID:13792791 11773095 IDE insulin degrading enzyme gene DOID:9352 type 2 diabetes mellitus ISO RGD:2861 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotype:exon:p.H18R, p.A890V (rat) PMID:10958757|REF_RGD_ID:737717 11773095 IDE insulin degrading enzyme gene DOID:9352 type 2 diabetes mellitus ISO RGD:732801 D RGD:9068941 20200609 RGD DNA:haplotype::CC haplotype of SNPs rs2209972 and rs1887922 in men of European descent from the Framingham Heart Study PMID:12765971|REF_RGD_ID:1626697 11773095 IDE insulin degrading enzyme gene DOID:9352 type 2 diabetes mellitus ISO RGD:732802 D RGD:9068941 20200609 RGD PMID:12634421|REF_RGD_ID:737718 11773095 IDE insulin degrading enzyme gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:732801 D RGD:9068941 20200609 RGD DNA:SNP,haplotype::no association with 21 single-marker SNPs or with 13 multi-marker haplotypes in 4206 individuals from Scandinavia and Canada PMID:16380485|REF_RGD_ID:1626698 11773124 RABGGTB Rab geranylgeranyltransferase subunit beta gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:736470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:28492532 11773124 RABGGTB Rab geranylgeranyltransferase subunit beta gene DOID:630 genetic disease ISO RGD:736470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773146 HSD17B13 hydroxysteroid 17-beta dehydrogenase 13 gene DOID:630 genetic disease ISO RGD:1342842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773146 HSD17B13 hydroxysteroid 17-beta dehydrogenase 13 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1342842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 11773146 HSD17B13 hydroxysteroid 17-beta dehydrogenase 13 gene DOID:9452 fatty liver disease ISO RGD:1342842 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: HSD17B13 POLYMORPHISM PMID:29562163|PMID:34930143 11773157 CENPN centromere protein N gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1603636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:28492532 11773157 CENPN centromere protein N gene DOID:630 genetic disease ISO RGD:1603636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773185 CMC2 C-X9-C motif containing 2 gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1601986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:28492532 11773185 CMC2 C-X9-C motif containing 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1601986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 11773207 IGSF11 immunoglobulin superfamily member 11 gene DOID:630 genetic disease ISO RGD:1318715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773222 ATAD2B ATPase family AAA domain containing 2B gene DOID:630 genetic disease ISO RGD:1604011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773260 PANX3 pannexin 3 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1351582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11773260 PANX3 pannexin 3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1351582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11773260 PANX3 pannexin 3 gene DOID:5419 schizophrenia ISO RGD:1351582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11773260 PANX3 pannexin 3 gene DOID:630 genetic disease ISO RGD:1351582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773260 PANX3 pannexin 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1351582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11773260 PANX3 pannexin 3 gene DOID:9007661 Dwarfism ISO RGD:1351582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11773267 MYO3A myosin IIIA gene DOID:0050563 nonsyndromic deafness ISO RGD:1349635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:25741868|PMID:29880844 11773267 MYO3A myosin IIIA gene DOID:0110489 autosomal recessive nonsyndromic deafness 30 ISO RGD:1349635 D RGD:7240710 20180130 OMIM 11773267 MYO3A myosin IIIA gene DOID:0110489 autosomal recessive nonsyndromic deafness 30 ISO RGD:1349635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 30 PMID:12032315|PMID:17344846|PMID:17576681|PMID:21165622|PMID:23967202|PMID:23990876|PMID:24033266|PMID:24214986|PMID:25741868|PMID:26166082|PMID:26467025|PMID:26841241|PMID:27068579|PMID:28492532|PMID:30311386|PMID:32006683|PMID:32747562|PMID:9536098 11773267 MYO3A myosin IIIA gene DOID:10003 sensorineural hearing loss ISO RGD:1349635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:12032315|PMID:23990876|PMID:25741868|PMID:28492532|PMID:32006683|PMID:32747562 11773267 MYO3A myosin IIIA gene DOID:630 genetic disease ISO RGD:1349635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 11773267 MYO3A myosin IIIA gene DOID:9004538 Hearing Loss ISO RGD:1349635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 11773267 MYO3A myosin IIIA gene DOID:9006380 Bilateral Hearing Loss ISO RGD:1349635 D RGD:9068941 20200609 RGD DFNB30, OMIM:607101, DNA:point mutation:exon:Y1043X PMID:12032315|REF_RGD_ID:1600555 11773267 MYO3A myosin IIIA gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1349635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss PMID:25741868|PMID:29880844 11773329 NISCH nischarin gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1315855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 11773329 NISCH nischarin gene DOID:10754 otitis media ISO RGD:1616802 D RGD:9068941 20220825 MouseDO OMIM:166760 11773329 NISCH nischarin gene DOID:10763 hypertension ISO RGD:1306950 D RGD:9068941 20200609 RGD PMID:12021582|REF_RGD_ID:1581128 11773329 NISCH nischarin gene DOID:6000 congestive heart failure ISO RGD:1315855 D RGD:9068941 20200609 RGD PMID:12021582|REF_RGD_ID:1581128 11773329 NISCH nischarin gene DOID:630 genetic disease ISO RGD:1315855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773329 NISCH nischarin gene DOID:9006024 Hypotension ISO RGD:1315855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11486246|PMID:22613216 11773329 NISCH nischarin gene DOID:9007001 Bradycardia ISO RGD:1315855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11486246 11773329 NISCH nischarin gene DOID:9008939 Breast Neoplasms ISO RGD:1315855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29912916 11773355 ANKAR ankyrin and armadillo repeat containing gene DOID:0111944 immunodeficiency 31B ISO RGD:1603564 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 11773355 ANKAR ankyrin and armadillo repeat containing gene DOID:630 genetic disease ISO RGD:1603564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773355 ANKAR ankyrin and armadillo repeat containing gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11773382 RBM8A RNA binding motif protein 8A gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1320809 D RGD:7240710 20180130 OMIM 11773382 RBM8A RNA binding motif protein 8A gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1320809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:16501574|PMID:17236129|PMID:17576681|PMID:22366785|PMID:22581968|PMID:23754559|PMID:24033266|PMID:24053387|PMID:24220582|PMID:25741868|PMID:26136524|PMID:26233629|PMID:27320760|PMID:27846804|PMID:28129423|PMID:28492532|PMID:28857120|PMID:32227665|PMID:34355501|PMID:9536098 11773382 RBM8A RNA binding motif protein 8A gene DOID:1540 parathyroid carcinoma ISO RGD:1320809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11773382 RBM8A RNA binding motif protein 8A gene DOID:5419 schizophrenia ISO RGD:1320809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11773382 RBM8A RNA binding motif protein 8A gene DOID:630 genetic disease ISO RGD:1320809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773382 RBM8A RNA binding motif protein 8A gene DOID:9008086 Developmental Disabilities ISO RGD:1320809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22366785|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28857120 11773382 RBM8A RNA binding motif protein 8A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11773396 HGFAC HGF activator gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1350664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 11773396 HGFAC HGF activator gene DOID:1856 cherubism ISO RGD:1350664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11773396 HGFAC HGF activator gene DOID:630 genetic disease ISO RGD:1350664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773396 HGFAC HGF activator gene DOID:684 hepatocellular carcinoma ISO RGD:1350664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 11773396 HGFAC HGF activator gene DOID:8778 Crohn's disease ISO RGD:1350664 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 11773419 RDM1 RAD52 motif containing 1 gene DOID:630 genetic disease ISO RGD:1321329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773471 ANGPTL6 angiopoietin like 6 gene DOID:0080600 COVID-19 ISO RGD:1322443 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11773471 ANGPTL6 angiopoietin like 6 gene DOID:630 genetic disease ISO RGD:1322443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773471 ANGPTL6 angiopoietin like 6 gene DOID:684 hepatocellular carcinoma ISO RGD:1322443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11773471 ANGPTL6 angiopoietin like 6 gene DOID:9970 obesity ISO RGD:1322444 D RGD:9068941 20220825 MouseDO OMIM:601665 11773481 MGME1 mitochondrial genome maintenance exonuclease 1 gene DOID:0080129 mitochondrial DNA depletion syndrome 11 ISO RGD:1316675 D RGD:7240710 20180130 OMIM 11773481 MGME1 mitochondrial genome maintenance exonuclease 1 gene DOID:0080129 mitochondrial DNA depletion syndrome 11 ISO RGD:1316675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 11 PMID:23313956|PMID:25741868|PMID:28097321|PMID:28492532|PMID:28711739 11773481 MGME1 mitochondrial genome maintenance exonuclease 1 gene DOID:0080600 COVID-19 ISO RGD:1316675 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11773481 MGME1 mitochondrial genome maintenance exonuclease 1 gene DOID:11162 respiratory failure ISO RGD:1316675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23313956 11773481 MGME1 mitochondrial genome maintenance exonuclease 1 gene DOID:539 ophthalmoplegia ISO RGD:1316675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23313956 11773481 MGME1 mitochondrial genome maintenance exonuclease 1 gene DOID:630 genetic disease ISO RGD:1316675 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11773481 MGME1 mitochondrial genome maintenance exonuclease 1 gene DOID:700 mitochondrial metabolism disease ISO RGD:1316675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23313956 11773481 MGME1 mitochondrial genome maintenance exonuclease 1 gene DOID:9000498 Emaciation ISO RGD:1316675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23313956 11773505 TSPAN1 tetraspanin 1 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1354320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related PMID:15466003|PMID:17576681|PMID:17878207|PMID:17906881|PMID:18195152|PMID:18691338|PMID:19067344|PMID:19299310|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21727005|PMID:22323514|PMID:22554691|PMID:22995991|PMID:24033266|PMID:24123366|PMID:25326635|PMID:25333069|PMID:25741868|PMID:26467025|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:30961548|PMID:34324503|PMID:9536098 11773505 TSPAN1 tetraspanin 1 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1354320 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related PMID:15466003|PMID:17576681|PMID:17878207|PMID:17906881|PMID:18195152|PMID:18691338|PMID:19067344|PMID:19299310|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21727005|PMID:22323514|PMID:22554691|PMID:22995991|PMID:24033266|PMID:24123366|PMID:25326635|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26908613|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:29555514|PMID:30961548|PMID:34324503|PMID:9536098 11773505 TSPAN1 tetraspanin 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1354320 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098 11773505 TSPAN1 tetraspanin 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1354320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098 11773505 TSPAN1 tetraspanin 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1354320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11773505 TSPAN1 tetraspanin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1354320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11773505 TSPAN1 tetraspanin 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1354320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11773505 TSPAN1 tetraspanin 1 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1354320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:11709191|PMID:12588800|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18330676|PMID:19299310|PMID:20215985|PMID:20816175|PMID:21361872|PMID:21447391|PMID:22323514|PMID:22522420|PMID:22554691|PMID:23326386|PMID:23689641|PMID:23894383|PMID:25390965|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:27391550|PMID:27493216|PMID:28424332|PMID:28492532|PMID:28688748|PMID:29302074|PMID:29555514|PMID:31066047|PMID:32404165|PMID:33144682|PMID:33200426|PMID:9536098 11773505 TSPAN1 tetraspanin 1 gene DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O ISO RGD:1354320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2O | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 15 PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22819665|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:23894383|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25987458|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27604308|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29096039|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:31872526|PMID:32115343|PMID:32404165|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098 11773505 TSPAN1 tetraspanin 1 gene DOID:0111229 congenital muscular dystrophy-dystroglycanopathy type A ISO RGD:1354320 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies PMID:11709191|PMID:12588800|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17559086|PMID:17878207|PMID:17881266|PMID:17906881|PMID:19299310|PMID:20816175|PMID:21447391|PMID:22323514|PMID:23326386|PMID:25741868|PMID:26013959|PMID:26908613|PMID:27391550|PMID:28492532 11773505 TSPAN1 tetraspanin 1 gene DOID:0111236 congenital muscular dystrophy-dystroglycanopathy type A3 ISO RGD:1354320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23894383|PMID:24033266|PMID:24123366|PMID:24282183|PMID:25333069|PMID:25390965|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:29555514|PMID:30961548|PMID:33144682|PMID:33200426|PMID:34324503|PMID:9536098 11773505 TSPAN1 tetraspanin 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1354320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11773505 TSPAN1 tetraspanin 1 gene DOID:0112374 muscular dystrophy-dystroglycanopathy ISO RGD:1354320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to dystroglycanopathy | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22819665|PMID:23326386|PMID:23453855|PMID:23689641|PMID:23894383|PMID:24282183|PMID:24731844|PMID:25390965|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28832562|PMID:29096039|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098 11773505 TSPAN1 tetraspanin 1 gene DOID:0112378 muscular dystrophy-dystroglycanopathy type B3 ISO RGD:1354320 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED PMID:11709191|PMID:12588800|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28832562|PMID:29555514|PMID:30961548|PMID:34324503|PMID:9536098 11773505 TSPAN1 tetraspanin 1 gene DOID:1059 intellectual disability ISO RGD:1354320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17878207|PMID:25741868|PMID:28492532 11773505 TSPAN1 tetraspanin 1 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1354320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy 11773505 TSPAN1 tetraspanin 1 gene DOID:630 genetic disease ISO RGD:1354320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15466003|PMID:17576681|PMID:17906881|PMID:19299310|PMID:20816175|PMID:21447391|PMID:22323514|PMID:22554691|PMID:22819665|PMID:25741868|PMID:26467025|PMID:26908613|PMID:27391550|PMID:27493216|PMID:28424332|PMID:28492532|PMID:28688748|PMID:29096039|PMID:29555514|PMID:9536098 11773505 TSPAN1 tetraspanin 1 gene DOID:9001993 Retinitis Pigmentosa 76 ISO RGD:1354320 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 76 PMID:11709191|PMID:12588800|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22554691|PMID:22995991|PMID:23326386|PMID:24033266|PMID:24123366|PMID:24282183|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28832562|PMID:9536098 11773505 TSPAN1 tetraspanin 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1354320 D RGD:9068941 20200609 RGD PMID:12115476|REF_RGD_ID:1331679 11773505 TSPAN1 tetraspanin 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1354320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotonia 11773505 TSPAN1 tetraspanin 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1354320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11773505 TSPAN1 tetraspanin 1 gene DOID:9281 phenylketonuria ISO RGD:1354320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Phenylketonuria PMID:25741868 11773527 MTCH1 mitochondrial carrier 1 gene DOID:0050553 JMP syndrome ISO RGD:1319508 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11773527 MTCH1 mitochondrial carrier 1 gene DOID:630 genetic disease ISO RGD:1319508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773543 TAFA2 TAFA chemokine like family member 2 gene DOID:2030 anxiety disorder ISO RGD:1345895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29339520 11773543 TAFA2 TAFA chemokine like family member 2 gene DOID:630 genetic disease ISO RGD:1345895 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773543 TAFA2 TAFA chemokine like family member 2 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1345895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29339520 11773575 INS insulin gene DOID:0014667 disease of metabolism ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19131468 11773575 INS insulin gene DOID:0014667 disease of metabolism ISO RGD:731056 D RGD:9068941 20210820 RGD associated with human immunodeficiency virus infectious disease;protein:increased expression:blood serum (human) PMID:22151886|REF_RGD_ID:150340610 11773575 INS insulin gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:731056 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:11921414|PMID:12610512|PMID:18162506|PMID:18171712|PMID:20007936|PMID:22572540|PMID:24275212|PMID:24411943|PMID:25542748|PMID:25741868|PMID:25781672|PMID:26101329|PMID:26467025|PMID:27634015|PMID:28492532|PMID:30455893|PMID:30456822|PMID:33206859|PMID:35083481 11773575 INS insulin gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11773575 INS insulin gene DOID:0050835 generalized dystonia ISO RGD:731056 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Generalized dystonia PMID:22572540|PMID:24275212|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30455893|PMID:35083481 11773575 INS insulin gene DOID:0060319 cardiac arrest ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17449947 11773575 INS insulin gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:731056 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive PMID:11921414|PMID:12610512|PMID:18162506|PMID:18171712|PMID:22572540|PMID:24275212|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:30455893|PMID:30456822|PMID:33206859|PMID:35083481 11773575 INS insulin gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:731056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:11921414|PMID:17047922|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18414213|PMID:18451997|PMID:18981553|PMID:19801494|PMID:19952343|PMID:20034470|PMID:20133622|PMID:20301620|PMID:20308425|PMID:20659334|PMID:20938745|PMID:20948967|PMID:21566073|PMID:21592955|PMID:21723250|PMID:22235272|PMID:22957706|PMID:23416061|PMID:23444373|PMID:24622368|PMID:25542748|PMID:25721872|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:30191644|PMID:30414308|PMID:34593315 11773575 INS insulin gene DOID:0080000 muscular disease ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:496411 11773575 INS insulin gene DOID:0080074 neural tube defect ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19446573 11773575 INS insulin gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:731056 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32613381 11773575 INS insulin gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18948358 11773575 INS insulin gene DOID:0080773 delta beta-thalassemia ISO RGD:731056 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11773575 INS insulin gene DOID:0110741 type 1 diabetes mellitus 2 ISO RGD:731056 D RGD:7240710 20180130 OMIM 11773575 INS insulin gene DOID:0110741 type 1 diabetes mellitus 2 ISO RGD:731056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 PMID:11921414|PMID:17047922|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18192540|PMID:18414213|PMID:20007936|PMID:20133622|PMID:20301620|PMID:20938745|PMID:20948967|PMID:21592955|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:30456822|PMID:34593315 11773575 INS insulin gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:731056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25741868|PMID:26467025|PMID:28492532|PMID:30456822 11773575 INS insulin gene DOID:0111108 maturity-onset diabetes of the young type 10 ISO RGD:731056 D RGD:7240710 20180130 OMIM 11773575 INS insulin gene DOID:0111108 maturity-onset diabetes of the young type 10 ISO RGD:731056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 10 PMID:11921414|PMID:12610512|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18192540|PMID:20007936|PMID:20226046|PMID:20948967|PMID:24411943|PMID:25423173|PMID:25542748|PMID:25741868|PMID:25781672|PMID:26101329|PMID:26467025|PMID:27634015|PMID:28478482|PMID:28492532|PMID:30456822|PMID:32916194|PMID:33206859 11773575 INS insulin gene DOID:0111969 immunodeficiency 39 ISO RGD:731056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11773575 INS insulin gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11773575 INS insulin gene DOID:10283 prostate cancer disease_progression ISO RGD:731056 D RGD:9068941 20200609 RGD PMID:27599544|REF_RGD_ID:13504777 11773575 INS insulin gene DOID:10603 glucose intolerance ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21779873 11773575 INS insulin gene DOID:10652 Alzheimer's disease ISO RGD:2916 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex PMID:17448147|REF_RGD_ID:2298713 11773575 INS insulin gene DOID:10652 Alzheimer's disease ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15750215|PMID:9443474 11773575 INS insulin gene DOID:1074 kidney failure ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8606734|PMID:9861226 11773575 INS insulin gene DOID:10763 hypertension ISO RGD:10812 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:29211853 11773575 INS insulin gene DOID:10763 hypertension ISO RGD:2916 D RGD:9068941 20200609 RGD PMID:9095092|REF_RGD_ID:6902896 11773575 INS insulin gene DOID:10763 hypertension ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18360027|PMID:9719048 11773575 INS insulin gene DOID:11612 polycystic ovary syndrome ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11889176|PMID:16123091|PMID:2777199 11773575 INS insulin gene DOID:11714 gestational diabetes ISO RGD:731056 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19269197|REF_RGD_ID:2311131 11773575 INS insulin gene DOID:11717 neonatal diabetes ISO RGD:731056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal diabetes mellitus PMID:11921414|PMID:17047922|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18414213|PMID:18451997|PMID:18981553|PMID:19801494|PMID:19952343|PMID:20034470|PMID:20301620|PMID:20308425|PMID:20659334|PMID:20948967|PMID:21723250|PMID:22957706|PMID:23416061|PMID:23444373|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:34593315 11773575 INS insulin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8660453 11773575 INS insulin gene DOID:12217 Lewy body dementia ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 11773575 INS insulin gene DOID:14330 Parkinson's disease ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 11773575 INS insulin gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:731056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11773575 INS insulin gene DOID:1561 cognitive disorder ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21911655 11773575 INS insulin gene DOID:1793 pancreatic cancer ISO RGD:10812 D RGD:9068941 20200609 RGD PMID:19628082|REF_RGD_ID:2317245 11773575 INS insulin gene DOID:1793 pancreatic cancer disease_progression ISO RGD:731056 D RGD:9068941 20200609 RGD DNA:Polymorphism:promoter:-23 HphI (human) PMID:19152242|REF_RGD_ID:2317253 11773575 INS insulin gene DOID:1793 pancreatic cancer susceptibility ISO RGD:731056 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:19375425|REF_RGD_ID:2317250 11773575 INS insulin gene DOID:1793 pancreatic cancer susceptibility ISO RGD:731056 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Depend PMID:19572116|REF_RGD_ID:2317247 11773575 INS insulin gene DOID:1837 diabetic ketoacidosis ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11430560 11773575 INS insulin gene DOID:1920 hyperuricemia ISO RGD:731056 D RGD:9068941 20200609 RGD PMID:19033255|REF_RGD_ID:6902897 11773575 INS insulin gene DOID:2018 hyperinsulinism ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2991050|PMID:3511099|PMID:4019786|PMID:6382002 11773575 INS insulin gene DOID:2018 hyperinsulinism ISO RGD:731056 D RGD:9068941 20200609 RGD PMID:9667398|REF_RGD_ID:1625121 11773575 INS insulin gene DOID:2237 hepatitis ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12243603 11773575 INS insulin gene DOID:2975 cystic kidney disease ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9879822 11773575 INS insulin gene DOID:3021 acute kidney failure ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12243603 11773575 INS insulin gene DOID:3312 bipolar disorder ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:5506046 11773575 INS insulin gene DOID:3587 pancreatic ductal carcinoma ISO RGD:731056 D RGD:9068941 20200609 RGD Glucagon/insulin PMID:19571666|REF_RGD_ID:2317248 11773575 INS insulin gene DOID:365 bladder disease ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2055425 11773575 INS insulin gene DOID:3892 insulinoma ISO RGD:731056 D RGD:9068941 20200609 RGD protein:altered expression:blood PMID:8175958|REF_RGD_ID:2317266 11773575 INS insulin gene DOID:3892 insulinoma ISO RGD:731056 D RGD:9068941 20200609 RGD protein:altered localization:pancreas PMID:2565624|REF_RGD_ID:2317268 11773575 INS insulin gene DOID:409 liver disease ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29684222 11773575 INS insulin gene DOID:4195 hyperglycemia ISO RGD:10812 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:18056790|PMID:29211853 11773575 INS insulin gene DOID:4195 hyperglycemia ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:8660453|PMID:9861226 11773575 INS insulin gene DOID:4500 hypokalemia ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:496411 11773575 INS insulin gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:731056 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 11773575 INS insulin gene DOID:4989 pancreatitis ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17163263 11773575 INS insulin gene DOID:557 kidney disease ISO RGD:10812 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:29211853 11773575 INS insulin gene DOID:594 panic disorder ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12073167 11773575 INS insulin gene DOID:6000 congestive heart failure ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15628829 11773575 INS insulin gene DOID:630 genetic disease ISO RGD:731056 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11921414|PMID:18171712|PMID:25542748|PMID:25741868|PMID:26101329|PMID:28492532 11773575 INS insulin gene DOID:657 adenoma ISO RGD:10812 D RGD:9068941 20200609 RGD protein:increased secretion:serum PMID:12917331|REF_RGD_ID:2317273 11773575 INS insulin gene DOID:684 hepatocellular carcinoma ISO RGD:731056 D RGD:9068941 20210820 RGD associated with Chronic Hepatitis C;mRNA:decreased expression:liver (human) PMID:33132693|REF_RGD_ID:150340613 11773575 INS insulin gene DOID:8398 osteoarthritis ISO RGD:731056 D RGD:9068941 20200609 RGD protein:increased expression:blood: PMID:2290165|REF_RGD_ID:10045857 11773575 INS insulin gene DOID:8947 diabetic retinopathy ISO RGD:10812 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30463601 11773575 INS insulin gene DOID:8947 diabetic retinopathy ISO RGD:731056 D RGD:9068941 20200609 RGD PMID:22046295|REF_RGD_ID:6902909 11773575 INS insulin gene DOID:9000184 Ventricular Fibrillation ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:5348156 11773575 INS insulin gene DOID:9000197 Edema ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15628829 11773575 INS insulin gene DOID:9000884 Rhabdomyolysis ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12243603 11773575 INS insulin gene DOID:9001542 Albuminuria ISO RGD:10812 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29420703 11773575 INS insulin gene DOID:9001542 Albuminuria ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9861226 11773575 INS insulin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26806094 11773575 INS insulin gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11872684 11773575 INS insulin gene DOID:9001961 Hyperkalemia ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20466255|PMID:8606734 11773575 INS insulin gene DOID:9001981 Weight Loss ISO RGD:10812 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:29211853 11773575 INS insulin gene DOID:9001981 Weight Loss ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22940631 11773575 INS insulin gene DOID:9002165 Diabetic Nephropathies ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:2143390|PMID:7713310|PMID:7987072 11773575 INS insulin gene DOID:9002165 Diabetic Nephropathies resistance ISO RGD:2916 D RGD:9068941 20200609 RGD PMID:22068113|REF_RGD_ID:6902908 11773575 INS insulin gene DOID:9002188 Hypoinsulinemia ISO RGD:731056 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypoinsulinemia PMID:12610512|PMID:25741868|PMID:26467025|PMID:33206859 11773575 INS insulin gene DOID:9002304 Prostatic Neoplasms ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12610512 11773575 INS insulin gene DOID:9002554 Tachycardia ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1324617 11773575 INS insulin gene DOID:9003242 Paresthesia ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9861226 11773575 INS insulin gene DOID:9003282 Hyperproinsulinemia ISO RGD:731056 D RGD:7240710 20180130 OMIM 11773575 INS insulin gene DOID:9003282 Hyperproinsulinemia ISO RGD:731056 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hyperproinsulinemia PMID:1601997|PMID:20034470|PMID:2196279|PMID:25741868|PMID:2991050|PMID:3057496|PMID:3306677|PMID:3470784|PMID:3511099|PMID:3537011|PMID:381941|PMID:4019786|PMID:6261753|PMID:6312455|PMID:6339950|PMID:6368587|PMID:6382002|PMID:7242673|PMID:7350438|PMID:8269791|PMID:8421693|PMID:8636380|PMID:9141561|PMID:9667398 11773575 INS insulin gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:731056 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:11921414|PMID:12610512|PMID:18162506|PMID:18171712|PMID:20809526|PMID:22264700|PMID:22572540|PMID:24275212|PMID:24753243|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:30455893|PMID:30456822|PMID:33206859|PMID:35083481 11773575 INS insulin gene DOID:9004319 Ventricular Outflow Obstruction ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8660453 11773575 INS insulin gene DOID:9004407 Permanent Neonatal Diabetes Mellitus 4 ISO RGD:731056 D RGD:7240710 20200520 OMIM 11773575 INS insulin gene DOID:9004407 Permanent Neonatal Diabetes Mellitus 4 ISO RGD:731056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 4 PMID:17047922|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18414213|PMID:18451997|PMID:18981553|PMID:19801494|PMID:19952343|PMID:20034470|PMID:20133622|PMID:20301620|PMID:20308425|PMID:20659334|PMID:20938745|PMID:20948967|PMID:21723250|PMID:22957706|PMID:23416061|PMID:23444373|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:34593315 11773575 INS insulin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24587105 11773575 INS insulin gene DOID:9004590 Acute Liver Failure ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12639207 11773575 INS insulin gene DOID:9005246 Paralysis ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7433326 11773575 INS insulin gene DOID:9006024 Hypotension ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1324617|PMID:48835|PMID:7418494 11773575 INS insulin gene DOID:9006599 Hypertriglyceridemia ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12754275 11773575 INS insulin gene DOID:9006646 Metabolic Syndrome ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11274935|PMID:16259526 11773575 INS insulin gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27884723|PMID:30266311 11773575 INS insulin gene DOID:9006854 MPTP Poisoning ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26364587 11773575 INS insulin gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20828608 11773575 INS insulin gene DOID:9007279 Type 2 Diabetes Mellitus 1 ISO RGD:731056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 PMID:11921414|PMID:17047922|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18192540|PMID:18414213|PMID:20007936|PMID:20133622|PMID:20301620|PMID:20938745|PMID:20948967|PMID:21592955|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:30456822|PMID:34593315 11773575 INS insulin gene DOID:9007692 Insulin Resistance ISO RGD:731056 D RGD:9068941 20200609 RGD PMID:3322910|REF_RGD_ID:2311112 11773575 INS insulin gene DOID:9007692 Insulin Resistance ISO RGD:731056 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:11522680|PMID:24648896|PMID:25796170|PMID:33651899 11773575 INS insulin gene DOID:9008023 Memory Disorders ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9264093 11773575 INS insulin gene DOID:9351 diabetes mellitus ISO RGD:731056 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:11921414|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18192540|PMID:20226046|PMID:25542748|PMID:25741868|PMID:26101329 11773575 INS insulin gene DOID:9352 type 2 diabetes mellitus ISO RGD:731056 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25741868|PMID:26467025|PMID:28492532|PMID:30456822 11773575 INS insulin gene DOID:9452 fatty liver disease ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9048448 11773575 INS insulin gene DOID:9452 fatty liver disease ISO RGD:731056 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:18713300|REF_RGD_ID:2311137 11773575 INS insulin gene DOID:9744 type 1 diabetes mellitus ISO RGD:731056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus PMID:11921414|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18192540|PMID:20133622|PMID:20226046|PMID:21592955|PMID:22235272|PMID:24622368|PMID:25542748|PMID:25721872|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:30414308 11773575 INS insulin gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:731056 D RGD:9068941 20210820 RGD associated autoimmune polyendocrine syndrome;DNA:repeat:promoter (human) PMID:20535137|REF_RGD_ID:150340608 11773575 INS insulin gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:731056 D RGD:9068941 20210820 RGD human gene in a mouse model PMID:16113600|PMID:16382177|PMID:17284779|REF_RGD_ID:150340606|REF_RGD_ID:150340615|REF_RGD_ID:150340616 11773575 INS insulin gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:731056 D RGD:9068941 20210820 RGD human protein in a mouse model PMID:21765853|PMID:26783749|REF_RGD_ID:150340605|REF_RGD_ID:150340612 11773575 INS insulin gene DOID:9970 obesity ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11528401|PMID:2777199|PMID:29035695|PMID:8923850 11773575 INS insulin gene DOID:9993 hypoglycemia ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1324617|PMID:1646414|PMID:1890151|PMID:20620209|PMID:22940631|PMID:2554359|PMID:48835 11773589 ST6GAL1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 gene DOID:0060575 3MC syndrome 1 ISO RGD:1601776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 11773589 ST6GAL1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 gene DOID:1574 alcohol use disorder severity ISO RGD:1601776 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver: PMID:17697868|REF_RGD_ID:10043133 11773589 ST6GAL1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1601776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 11773589 ST6GAL1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 gene DOID:3070 high grade glioma treatment ISO RGD:3676 D RGD:9068941 20200609 RGD PMID:11559557|REF_RGD_ID:10043143 11773589 ST6GAL1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 gene DOID:630 genetic disease ISO RGD:1601776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773589 ST6GAL1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736316 D RGD:9068941 20200609 RGD protein:increased activity:liver: PMID:9331085|REF_RGD_ID:10043141 11773589 ST6GAL1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 gene DOID:9008691 Liver Injury ISO RGD:736316 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:19046688|REF_RGD_ID:10043142 11773589 ST6GAL1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1601776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21874001 11773617 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:0112168 autosomal dominant nonsyndromic deafness 77 ISO RGD:1344624 D RGD:7240710 20200701 OMIM 11773617 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:0112168 autosomal dominant nonsyndromic deafness 77 ISO RGD:1344624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 77 PMID:31273342 11773617 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:10652 Alzheimer's disease ISO RGD:10919 D RGD:9068941 20200611 RGD PMID:25991605|REF_RGD_ID:13801010 11773617 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:10763 hypertension ISO RGD:1344624 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:17272743 11773617 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:114 heart disease ISO RGD:1344624 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:16330681 11773617 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:12849 autistic disorder ISO RGD:1344624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11773617 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:1324 lung cancer treatment ISO RGD:10919 D RGD:9068941 20220901 RGD PMID:35289739|REF_RGD_ID:153344587 11773617 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:1826 epilepsy ISO RGD:1344624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11773617 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:1344624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum PMID:11439001|PMID:16541094 11773617 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:2841 asthma ISO RGD:10919 D RGD:9068941 20200611 RGD PMID:18931056|REF_RGD_ID:5128825 11773617 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1344624 D RGD:9068941 20200611 RGD DNA:SNPs: :rs212093, rs4148382 (human) PMID:20487524|REF_RGD_ID:5128824 11773617 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1344624 D RGD:9068941 20200611 RGD mRNA:decreased expression:respiratory epithelial cell PMID:12930913|REF_RGD_ID:5128827 11773617 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:5419 schizophrenia ISO RGD:1344624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11773617 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1344624 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:25275603 11773617 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:574 peripheral nervous system disease ISO RGD:1344624 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 11773617 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:630 genetic disease ISO RGD:1344624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773617 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:8445 intestinal volvulus ISO RGD:1344624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11773617 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:874 bacterial pneumonia ISO RGD:10919 D RGD:9068941 20200611 RGD PMID:11238654|REF_RGD_ID:5128828 11773617 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:9000918 Disease Progression ISO RGD:1344624 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:25078270 11773617 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1344624 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:18256692 11773617 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344624 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:18466103 11773617 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:9007521 Desbuquois Dysplasia 1 ISO RGD:1344624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 1 PMID:24581741|PMID:26601923|PMID:28492532|PMID:30554721 11773617 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1344624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11773617 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1344624 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 11773617 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1344624 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:25078270 11773617 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1344624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 11773618 FASLG Fas ligand gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1553064 D RGD:9068941 20200609 RGD PMID:15148335|REF_RGD_ID:11049166 11773618 FASLG Fas ligand gene DOID:0050625 biliary tract benign neoplasm ISO RGD:1606342 D RGD:9068941 20200609 RGD associated with Biliary Tract Disease;protein:decreased expression:serum PMID:15287856|REF_RGD_ID:2317742 11773618 FASLG Fas ligand gene DOID:0050625 biliary tract benign neoplasm ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:15138553|REF_RGD_ID:2317743 11773618 FASLG Fas ligand gene DOID:0050700 cardiomyopathy ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16324756|PMID:17943461 11773618 FASLG Fas ligand gene DOID:0050908 myelodysplastic syndrome ISO RGD:1606342 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:bone marrow: PMID:9557605|REF_RGD_ID:11049447 11773618 FASLG Fas ligand gene DOID:0050908 myelodysplastic syndrome ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:decreased expression:peripheral blood mononuclear cell: PMID:15686130|REF_RGD_ID:11049448 11773618 FASLG Fas ligand gene DOID:0060108 brain glioma treatment ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:29324390|REF_RGD_ID:13792598 11773618 FASLG Fas ligand gene DOID:0060500 drug allergy ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19706026 11773618 FASLG Fas ligand gene DOID:0081267 graft-versus-host disease ISO RGD:1606342 D RGD:9068941 20200609 RGD PMID:9404931|REF_RGD_ID:11049160 11773618 FASLG Fas ligand gene DOID:0081267 graft-versus-host disease ISO RGD:3880 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:10452880|REF_RGD_ID:14700681 11773618 FASLG Fas ligand gene DOID:10591 pre-eclampsia susceptibility ISO RGD:1606342 D RGD:9068941 20200609 RGD DNA:SNP:intron:124A>G(rs5030772)(human) PMID:30066360|REF_RGD_ID:14700669 11773618 FASLG Fas ligand gene DOID:10808 gastric ulcer treatment ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:29339218|REF_RGD_ID:13792597 11773618 FASLG Fas ligand gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:1606342 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:-844T>C PMID:16538171|REF_RGD_ID:2290063 11773618 FASLG Fas ligand gene DOID:11713 diabetic angiopathy ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 11773618 FASLG Fas ligand gene DOID:11713 diabetic angiopathy ISO RGD:1606342 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:15803113|REF_RGD_ID:2315753 11773618 FASLG Fas ligand gene DOID:127 leiomyoma ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:myometrium PMID:18000229|REF_RGD_ID:2292498 11773618 FASLG Fas ligand gene DOID:12858 Huntington's disease ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:decreased expression:putamen,caudate: PMID:11054182|REF_RGD_ID:12903948 11773618 FASLG Fas ligand gene DOID:12930 dilated cardiomyopathy ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17943461 11773618 FASLG Fas ligand gene DOID:13133 HELLP syndrome ISO RGD:3880 D RGD:9068941 20200609 RGD protein:altered expression:blood, placenta, liver: PMID:28501275|REF_RGD_ID:14700673 11773618 FASLG Fas ligand gene DOID:13133 HELLP syndrome susceptibility ISO RGD:1606342 D RGD:9068941 20200609 RGD DNA:SNP:intron:124A>G(rs5030772)(human) PMID:30066360|REF_RGD_ID:14700669 11773618 FASLG Fas ligand gene DOID:1324 lung cancer ISO RGD:1606342 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:17605793|PMID:25741868|PMID:28492532 11773618 FASLG Fas ligand gene DOID:13767 clonorchiasis ISO RGD:1606342 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:18427836|REF_RGD_ID:2315733 11773618 FASLG Fas ligand gene DOID:13767 clonorchiasis ISO RGD:3880 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:18427836|REF_RGD_ID:2315733 11773618 FASLG Fas ligand gene DOID:13809 familial combined hyperlipidemia ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15063428 11773618 FASLG Fas ligand gene DOID:14330 Parkinson's disease ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:decreased expression:neurones of the substantia nigra pars: PMID:11054182|REF_RGD_ID:12903948 11773618 FASLG Fas ligand gene DOID:14330 Parkinson's disease ISO RGD:3880 D RGD:9068941 20200609 RGD protein:increased expression:substantia nigra pars compacta, striatum (rat) PMID:17959308|REF_RGD_ID:2290172 11773618 FASLG Fas ligand gene DOID:1485 cystic fibrosis ISO RGD:1606342 D RGD:9068941 20200609 RGD PMID:10567629|REF_RGD_ID:12904024 11773618 FASLG Fas ligand gene DOID:1540 parathyroid carcinoma ISO RGD:1606342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11773618 FASLG Fas ligand gene DOID:1577 limited scleroderma ISO RGD:1553064 D RGD:9068941 20200609 RGD PMID:17102953|REF_RGD_ID:12903974 11773618 FASLG Fas ligand gene DOID:1793 pancreatic cancer ISO RGD:1606342 D RGD:9068941 20200609 RGD PMID:11115536|REF_RGD_ID:2317745 11773618 FASLG Fas ligand gene DOID:1793 pancreatic cancer resistance ISO RGD:1606342 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-844>>T (human) PMID:18483392|REF_RGD_ID:2315744 11773618 FASLG Fas ligand gene DOID:1793 pancreatic cancer severity ISO RGD:1606342 D RGD:9068941 20200609 RGD PMID:12370548|REF_RGD_ID:2317744 11773618 FASLG Fas ligand gene DOID:1909 melanoma ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16487513 11773618 FASLG Fas ligand gene DOID:1909 melanoma susceptibility ISO RGD:1606342 D RGD:9068941 20200609 RGD DNA:polymorphisms,haplotype:promoter:-844C>T,IVS2nt-124A>G(human) PMID:16538172|REF_RGD_ID:12903985 11773618 FASLG Fas ligand gene DOID:1936 atherosclerosis ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15063428 11773618 FASLG Fas ligand gene DOID:2043 hepatitis B ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:12526294|REF_RGD_ID:14700675 11773618 FASLG Fas ligand gene DOID:2048 autoimmune hepatitis treatment ISO RGD:1553064 D RGD:9068941 20200609 RGD PMID:28551553|REF_RGD_ID:14700710 11773618 FASLG Fas ligand gene DOID:2237 hepatitis ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19706026 11773618 FASLG Fas ligand gene DOID:2237 hepatitis severity ISO RGD:1553064 D RGD:9068941 20200609 RGD PMID:28406481|REF_RGD_ID:14401591 11773618 FASLG Fas ligand gene DOID:2316 brain ischemia ISO RGD:3880 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:18410517|REF_RGD_ID:2311437 11773618 FASLG Fas ligand gene DOID:2377 multiple sclerosis ISO RGD:1606342 D RGD:9068941 20200609 RGD DNA:repeat:promoter:g.-46(CA)11-15 (human) PMID:11438180|REF_RGD_ID:1358622 11773618 FASLG Fas ligand gene DOID:2377 multiple sclerosis ISO RGD:1606342 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 11773618 FASLG Fas ligand gene DOID:2519 testicular disease ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19429229 11773618 FASLG Fas ligand gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1606342 D RGD:9068941 20200609 RGD PMID:12470426|PMID:12651606|REF_RGD_ID:2290076|REF_RGD_ID:2290077 11773618 FASLG Fas ligand gene DOID:303 substance-related disorder ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:15644446|REF_RGD_ID:1358616 11773618 FASLG Fas ligand gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:29208459|REF_RGD_ID:13792601 11773618 FASLG Fas ligand gene DOID:3407 carotid artery disease ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15063428 11773618 FASLG Fas ligand gene DOID:3457 invasive lobular carcinoma ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:10640988|REF_RGD_ID:2290134 11773618 FASLG Fas ligand gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1606342 D RGD:9068941 20200609 RGD PMID:10547193|REF_RGD_ID:2317747 11773618 FASLG Fas ligand gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, liver PMID:15375495|REF_RGD_ID:2317741 11773618 FASLG Fas ligand gene DOID:3908 lung non-small cell carcinoma ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21807637 11773618 FASLG Fas ligand gene DOID:409 liver disease treatment ISO RGD:3880 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:29852394|REF_RGD_ID:13792574 11773618 FASLG Fas ligand gene DOID:4440 seminoma ISO RGD:1606342 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:testis PMID:17916181|REF_RGD_ID:2290049 11773618 FASLG Fas ligand gene DOID:4450 renal cell carcinoma ISO RGD:1553064 D RGD:9068941 20200609 RGD PMID:11435457|PMID:17641033|REF_RGD_ID:2290051|REF_RGD_ID:2290132 11773618 FASLG Fas ligand gene DOID:4928 intrahepatic cholangiocarcinoma severity ISO RGD:1606342 D RGD:9068941 20200609 RGD PMID:11003620|REF_RGD_ID:14700701 11773618 FASLG Fas ligand gene DOID:4947 cholangiocarcinoma ISO RGD:1606342 D RGD:9068941 20200609 RGD PMID:11029528|REF_RGD_ID:2317746 11773618 FASLG Fas ligand gene DOID:6000 congestive heart failure treatment ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:29746994|REF_RGD_ID:13792577 11773618 FASLG Fas ligand gene DOID:630 genetic disease ISO RGD:1606342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11773618 FASLG Fas ligand gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1606342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:16627752|PMID:17576681|PMID:17605793|PMID:21368861|PMID:22857792|PMID:25451160|PMID:25741868|PMID:26334989|PMID:26456038|PMID:28492532|PMID:8787672|PMID:9536098 11773618 FASLG Fas ligand gene DOID:6688 autoimmune lymphoproliferative syndrome susceptibility ISO RGD:1606342 D RGD:7240710 20230505 OMIM 11773618 FASLG Fas ligand gene DOID:684 hepatocellular carcinoma ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:11274632|REF_RGD_ID:14700677 11773618 FASLG Fas ligand gene DOID:7148 rheumatoid arthritis ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 11773618 FASLG Fas ligand gene DOID:7693 abdominal aortic aneurysm ISO RGD:3880 D RGD:9068941 20201002 RGD protein:increased expression:aorta (rat) PMID:15238617|REF_RGD_ID:1302825 11773618 FASLG Fas ligand gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:1606342 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: -844 T>C(human) PMID:26563376|REF_RGD_ID:11049146 11773618 FASLG Fas ligand gene DOID:8568 infectious mononucleosis ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:lymphocyte, serum: PMID:11185989|REF_RGD_ID:11049152 11773618 FASLG Fas ligand gene DOID:8577 ulcerative colitis treatment ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:30122878|REF_RGD_ID:13792562 11773618 FASLG Fas ligand gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1606342 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections PMID:17433060|REF_RGD_ID:2290052 11773618 FASLG Fas ligand gene DOID:9000011 Gallbladder Neoplasms disease_progression ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:gallbladder PMID:15968727|REF_RGD_ID:2317739 11773618 FASLG Fas ligand gene DOID:9000117 Esophageal Neoplasms ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:esophageal mucosa: PMID:9605741|REF_RGD_ID:11049151 11773618 FASLG Fas ligand gene DOID:9000965 Neoplasm Metastasis ISO RGD:1606342 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:decreased expression:breast PMID:17352235|REF_RGD_ID:2290053 11773618 FASLG Fas ligand gene DOID:9001553 Spinal Cord Compression ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord: PMID:21490053|REF_RGD_ID:12904017 11773618 FASLG Fas ligand gene DOID:9001553 Spinal Cord Compression treatment ISO RGD:1553064 D RGD:9068941 20200609 RGD PMID:21490053|REF_RGD_ID:12904017 11773618 FASLG Fas ligand gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:18561025|REF_RGD_ID:14700680 11773618 FASLG Fas ligand gene DOID:9002165 Diabetic Nephropathies ISO RGD:1606342 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:kidney PMID:17851466|REF_RGD_ID:2315705 11773618 FASLG Fas ligand gene DOID:9002231 Fetal Growth Retardation ISO RGD:1606342 D RGD:9068941 20200609 RGD associated with protein:increased expression:serum: PMID:16169656|REF_RGD_ID:12904025 11773618 FASLG Fas ligand gene DOID:9002231 Fetal Growth Retardation severity ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:amniotic fluid: PMID:23582102|REF_RGD_ID:12903972 11773618 FASLG Fas ligand gene DOID:9002283 Experimental Allergic Asthma treatment ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:29713367|REF_RGD_ID:13792581 11773618 FASLG Fas ligand gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17875776 11773618 FASLG Fas ligand gene DOID:9002371 Cardiotoxicity ISO RGD:1553064 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34713381 11773618 FASLG Fas ligand gene DOID:9002371 Cardiotoxicity ISO RGD:1606342 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34713381 11773618 FASLG Fas ligand gene DOID:9002395 Hypothermia ISO RGD:3880 D RGD:9068941 20200609 RGD associated with Brain Ischemia PMID:18410517|REF_RGD_ID:2311437 11773618 FASLG Fas ligand gene DOID:9002457 Experimental Arthritis treatment ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:22354915|REF_RGD_ID:7204500 11773618 FASLG Fas ligand gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1606342 D RGD:9068941 20200609 RGD PMID:10944459|REF_RGD_ID:12903984 11773618 FASLG Fas ligand gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:1553064 D RGD:9068941 20200609 RGD PMID:17102953|REF_RGD_ID:12903974 11773618 FASLG Fas ligand gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1606342 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections PMID:17433060|REF_RGD_ID:2290052 11773618 FASLG Fas ligand gene DOID:9004058 Immunodeficiency 98 with Autoinflammation, X-Linked ISO RGD:1606342 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Immunodeficiency 98 with autoinflammation, X-linked PMID:28492532 11773618 FASLG Fas ligand gene DOID:9004283 Transplant Rejection ISO RGD:3880 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:10357921|REF_RGD_ID:14700698 11773618 FASLG Fas ligand gene DOID:9004484 Sepsis ISO RGD:3880 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:17899301|REF_RGD_ID:2290175 11773618 FASLG Fas ligand gene DOID:9004590 Acute Liver Failure ISO RGD:1553064 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:18946736|REF_RGD_ID:14700674 11773618 FASLG Fas ligand gene DOID:9004590 Acute Liver Failure ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19505222 11773618 FASLG Fas ligand gene DOID:9004590 Acute Liver Failure ISO RGD:1606342 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, lymphocyte, serum: PMID:10950056|REF_RGD_ID:14700697 11773618 FASLG Fas ligand gene DOID:9004590 Acute Liver Failure ISO RGD:1606342 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:16279913|REF_RGD_ID:14401578 11773618 FASLG Fas ligand gene DOID:9004610 Acute Lung Injury ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11778176 11773618 FASLG Fas ligand gene DOID:9004779 Autoimmune Lymphoproliferative Syndrome, Type IB ISO RGD:1606342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1b PMID:25741868|PMID:8787672 11773618 FASLG Fas ligand gene DOID:9005172 Lung Neoplasms ISO RGD:1606342 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 11773618 FASLG Fas ligand gene DOID:9005172 Lung Neoplasms susceptibility ISO RGD:1606342 D RGD:7240710 20230505 OMIM 11773618 FASLG Fas ligand gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3880 D RGD:9068941 20200609 RGD protein:increased expression:heart ventricle PMID:19820199|REF_RGD_ID:2314021 11773618 FASLG Fas ligand gene DOID:9005749 Necrosis ISO RGD:1553064 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15664267 11773618 FASLG Fas ligand gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:29285062|REF_RGD_ID:13792599 11773618 FASLG Fas ligand gene DOID:9006741 Acute Hepatitis ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:10950056|REF_RGD_ID:14700697 11773618 FASLG Fas ligand gene DOID:9006741 Acute Hepatitis ISO RGD:3880 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11290807|REF_RGD_ID:14401580 11773618 FASLG Fas ligand gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:1553064 D RGD:9068941 20200609 RGD protein:increased expression:Kupffer cell: PMID:15797225|REF_RGD_ID:14700708 11773618 FASLG Fas ligand gene DOID:9007558 Acute Experimental Pancreatitis severity ISO RGD:1553064 D RGD:9068941 20200609 RGD PMID:15797225|REF_RGD_ID:14700708 11773618 FASLG Fas ligand gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1606342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 11773618 FASLG Fas ligand gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:29170412|REF_RGD_ID:13792603 11773618 FASLG Fas ligand gene DOID:9008691 Liver Injury treatment ISO RGD:1553064 D RGD:9068941 20200609 RGD PMID:11698468|REF_RGD_ID:14401579 11773618 FASLG Fas ligand gene DOID:9008939 Breast Neoplasms ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:10640988|REF_RGD_ID:2290134 11773618 FASLG Fas ligand gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:1606342 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-844T>C PMID:17183065|REF_RGD_ID:2290054 11773618 FASLG Fas ligand gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11773618 FASLG Fas ligand gene DOID:9352 type 2 diabetes mellitus ISO RGD:1606342 D RGD:9068941 20200609 RGD DNA:repeats:3' utr (human) PMID:16691186|REF_RGD_ID:2315750 11773618 FASLG Fas ligand gene DOID:9538 multiple myeloma disease_progression ISO RGD:1606342 D RGD:9068941 20200609 RGD PMID:16321857|REF_RGD_ID:11049149 11773618 FASLG Fas ligand gene DOID:9744 type 1 diabetes mellitus ISO RGD:1553064 D RGD:9068941 20220825 MouseDO OMIM:222100 11773618 FASLG Fas ligand gene DOID:9744 type 1 diabetes mellitus ISO RGD:1606342 D RGD:9068941 20200609 RGD mRNA:decreased expression:lymphocyte PMID:16180659|REF_RGD_ID:2315751 11773618 FASLG Fas ligand gene DOID:9744 type 1 diabetes mellitus ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:lymphocyte PMID:19120316|REF_RGD_ID:2315742 11773618 FASLG Fas ligand gene DOID:9744 type 1 diabetes mellitus ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:17324464|REF_RGD_ID:2315748 11773628 LOC100970443 olfactory receptor 10S1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1349590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11773628 LOC100970443 olfactory receptor 10S1 gene DOID:5419 schizophrenia ISO RGD:1349590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11773628 LOC100970443 olfactory receptor 10S1 gene DOID:630 genetic disease ISO RGD:1349590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773628 LOC100970443 olfactory receptor 10S1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1349590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11773628 LOC100970443 olfactory receptor 10S1 gene DOID:9007661 Dwarfism ISO RGD:1349590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11773631 HAT1 histone acetyltransferase 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1313912 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11773631 HAT1 histone acetyltransferase 1 gene DOID:630 genetic disease ISO RGD:1313912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773631 HAT1 histone acetyltransferase 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1305716 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:17182829|REF_RGD_ID:2316578 11773652 PTPRT protein tyrosine phosphatase receptor type T gene DOID:0060041 autism spectrum disorder ISO RGD:1320107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11773652 PTPRT protein tyrosine phosphatase receptor type T gene DOID:1059 intellectual disability ISO RGD:1320107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11773652 PTPRT protein tyrosine phosphatase receptor type T gene DOID:12849 autistic disorder ISO RGD:1320107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11773652 PTPRT protein tyrosine phosphatase receptor type T gene DOID:219 colon cancer ISO RGD:1320108 D RGD:9068941 20211217 RGD PMID:20133777|REF_RGD_ID:150520184 11773652 PTPRT protein tyrosine phosphatase receptor type T gene DOID:219 colon cancer exacerbates ISO RGD:10166 D RGD:9068941 20220204 RGD PMID:27447856|REF_RGD_ID:150520192 11773652 PTPRT protein tyrosine phosphatase receptor type T gene DOID:2234 focal epilepsy ISO RGD:1320107 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11773652 PTPRT protein tyrosine phosphatase receptor type T gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1320107 D RGD:9068941 20211105 RGD DNA:SNPs:3'utr: (rs2866943 , rs6029959 ) (human) PMID:25967969|REF_RGD_ID:150520191 11773652 PTPRT protein tyrosine phosphatase receptor type T gene DOID:5419 schizophrenia ISO RGD:1320107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11773652 PTPRT protein tyrosine phosphatase receptor type T gene DOID:630 genetic disease ISO RGD:1320107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773652 PTPRT protein tyrosine phosphatase receptor type T gene DOID:9256 colorectal cancer treatment ISO RGD:1320107 D RGD:9068941 20211105 RGD DNA:deletion: PMID:30200630|REF_RGD_ID:150520195 11773694 ATXN7L2 ataxin 7 like 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1350736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11773694 ATXN7L2 ataxin 7 like 2 gene DOID:12849 autistic disorder ISO RGD:1350736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11773694 ATXN7L2 ataxin 7 like 2 gene DOID:630 genetic disease ISO RGD:1350736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773712 OSM oncostatin M gene DOID:0080600 COVID-19 ISO RGD:69134 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11773712 OSM oncostatin M gene DOID:2773 contact dermatitis ISO RGD:69134 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11773712 OSM oncostatin M gene DOID:3587 pancreatic ductal carcinoma ISO RGD:69134 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24979617 11773712 OSM oncostatin M gene DOID:630 genetic disease ISO RGD:69134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773712 OSM oncostatin M gene DOID:676 juvenile rheumatoid arthritis ISO RGD:69134 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11773712 OSM oncostatin M gene DOID:9000965 Neoplasm Metastasis ISO RGD:69134 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937440 11773712 OSM oncostatin M gene DOID:9001341 Chloracne ISO RGD:69134 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 11773712 OSM oncostatin M gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69134 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17640959 11773719 ARMC5 armadillo repeat containing 5 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1315235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11773719 ARMC5 armadillo repeat containing 5 gene DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 ISO RGD:1315235 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11773719 ARMC5 armadillo repeat containing 5 gene DOID:0111624 ACTH-independent macronodular adrenal hyperplasia 2 ISO RGD:1315235 D RGD:7240710 20180130 OMIM 11773719 ARMC5 armadillo repeat containing 5 gene DOID:0111624 ACTH-independent macronodular adrenal hyperplasia 2 ISO RGD:1315235 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ACTH-independent macronodular adrenal hyperplasia 2 PMID:24283224|PMID:24601692|PMID:24708098|PMID:24905064|PMID:25741868|PMID:27094308|PMID:28492532|PMID:32117062|PMID:35368666|PMID:36727580 11773719 ARMC5 armadillo repeat containing 5 gene DOID:630 genetic disease ISO RGD:1315235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11773735 FPR3 formyl peptide receptor 3 gene DOID:0080600 COVID-19 ISO RGD:1350649 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11773735 FPR3 formyl peptide receptor 3 gene DOID:630 genetic disease ISO RGD:1350649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773741 RND2 Rho family GTPase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1346063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 11773741 RND2 Rho family GTPase 2 gene DOID:630 genetic disease ISO RGD:1346063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773757 EVA1A eva-1 homolog A, regulator of programmed cell death gene DOID:630 genetic disease ISO RGD:1604577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773787 ANTXR2 ANTXR cell adhesion molecule 2 gene DOID:0050871 fibroma ISO RGD:1346318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12973667|PMID:14508707 11773787 ANTXR2 ANTXR cell adhesion molecule 2 gene DOID:0050871 fibroma susceptibility ISO RGD:1346318 D RGD:9068941 20200609 RGD PMID:14508707|REF_RGD_ID:1599125 11773787 ANTXR2 ANTXR cell adhesion molecule 2 gene DOID:0111445 progressive myoclonus epilepsy 10 ISO RGD:1346318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Lafora body disease PMID:28492532 11773787 ANTXR2 ANTXR cell adhesion molecule 2 gene DOID:0111669 hyaline fibromatosis syndrome ISO RGD:1346318 D RGD:7240710 20180130 OMIM 11773787 ANTXR2 ANTXR cell adhesion molecule 2 gene DOID:0111669 hyaline fibromatosis syndrome ISO RGD:1346318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyaline fibromatosis syndrome PMID:12973667|PMID:14508707|PMID:15725249|PMID:20331448|PMID:22383261|PMID:23386947|PMID:24088041|PMID:25741868|PMID:26335786|PMID:26633545|PMID:28492532|PMID:32860008 11773787 ANTXR2 ANTXR cell adhesion molecule 2 gene DOID:11476 osteoporosis ISO RGD:1346318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12973667 11773787 ANTXR2 ANTXR cell adhesion molecule 2 gene DOID:3529 central core disease ISO RGD:1346318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central core myopathy PMID:25741868 11773787 ANTXR2 ANTXR cell adhesion molecule 2 gene DOID:5338 gingival hypertrophy ISO RGD:1346318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12973667|PMID:14508707 11773787 ANTXR2 ANTXR cell adhesion molecule 2 gene DOID:630 genetic disease ISO RGD:1346318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773787 ANTXR2 ANTXR cell adhesion molecule 2 gene DOID:7147 ankylosing spondylitis ISO RGD:1346318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062062|PMID:21743469 11773787 ANTXR2 ANTXR cell adhesion molecule 2 gene DOID:7427 anthrax disease ISO RGD:1561294 D RGD:9068941 20200609 RGD PMID:17054395|REF_RGD_ID:1599126 11773787 ANTXR2 ANTXR cell adhesion molecule 2 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1346318 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11773787 ANTXR2 ANTXR cell adhesion molecule 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 11773787 ANTXR2 ANTXR cell adhesion molecule 2 gene DOID:9006081 Osteolysis ISO RGD:1346318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12973667 11773787 ANTXR2 ANTXR cell adhesion molecule 2 gene DOID:9006836 Contracture ISO RGD:1346318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12973667|PMID:14508707 11773817 TNK1 tyrosine kinase non receptor 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1320828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11773817 TNK1 tyrosine kinase non receptor 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1320828 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11773817 TNK1 tyrosine kinase non receptor 1 gene DOID:1059 intellectual disability ISO RGD:1320828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11773817 TNK1 tyrosine kinase non receptor 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1320828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11773817 TNK1 tyrosine kinase non receptor 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1320828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11773817 TNK1 tyrosine kinase non receptor 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1320828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11773817 TNK1 tyrosine kinase non receptor 1 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1320828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 11773817 TNK1 tyrosine kinase non receptor 1 gene DOID:630 genetic disease ISO RGD:1320828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773817 TNK1 tyrosine kinase non receptor 1 gene DOID:9255 frontotemporal dementia ISO RGD:1320828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:25741868 11773834 LXN latexin gene DOID:1909 melanoma ISO RGD:737325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 11773834 LXN latexin gene DOID:630 genetic disease ISO RGD:737325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773834 LXN latexin gene DOID:9003882 Chromosomal Instability ISO RGD:737325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25341047 11773844 RNF152 ring finger protein 152 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1313171 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11773844 RNF152 ring finger protein 152 gene DOID:630 genetic disease ISO RGD:1313171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773862 MATN3 matrilin 3 gene DOID:0050577 cranioectodermal dysplasia ISO RGD:1312907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome PMID:25741868|PMID:28492532 11773862 MATN3 matrilin 3 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1312907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:25741868|PMID:28492532 11773862 MATN3 matrilin 3 gene DOID:0070299 multiple epiphyseal dysplasia 5 ISO RGD:1312907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MICROEPIPHYSEAL DYSPLASIA, BILATERAL HEREDITARY | ClinVar Annotator: match by term: Microepiphyseal dysplasia, bilateral hereditary | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia, MATN3-related PMID:11479597|PMID:12736871|PMID:12884427|PMID:13849708|PMID:14729835|PMID:15459972|PMID:15948199|PMID:16199550|PMID:16287128|PMID:17517694|PMID:18205203|PMID:18518980|PMID:20301302|PMID:20428984|PMID:21922596|PMID:21965141|PMID:25741868|PMID:28146470|PMID:28492532|PMID:30080953|PMID:31724101 11773862 MATN3 matrilin 3 gene DOID:0070299 multiple epiphyseal dysplasia 5 susceptibility ISO RGD:1312907 D RGD:7240710 20230517 OMIM 11773862 MATN3 matrilin 3 gene DOID:0080804 cranioectodermal dysplasia 2 ISO RGD:1312907 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 PMID:25741868|PMID:28492532 11773862 MATN3 matrilin 3 gene DOID:0110090 short-rib thoracic dysplasia 7 with or without polydactyly ISO RGD:1312907 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly PMID:25741868|PMID:28492532 11773862 MATN3 matrilin 3 gene DOID:12721 multiple epiphyseal dysplasia ISO RGD:1312907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia PMID:11479597|PMID:14729835|PMID:15459972|PMID:15948199|PMID:16199550|PMID:16287128|PMID:17517694|PMID:18205203|PMID:18518980|PMID:20301302|PMID:20428984|PMID:21922596|PMID:21965141|PMID:25741868|PMID:28492532|PMID:31724101|PMID:34092239 11773862 MATN3 matrilin 3 gene DOID:2256 osteochondrodysplasia ISO RGD:1312907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia PMID:11479597|PMID:14729835|PMID:15459972|PMID:15948199|PMID:16199550|PMID:16287128|PMID:17517694|PMID:18205203|PMID:18518980|PMID:20301302|PMID:20428984|PMID:21922596|PMID:21965141|PMID:25741868|PMID:28492532|PMID:31724101|PMID:34092239 11773862 MATN3 matrilin 3 gene DOID:630 genetic disease ISO RGD:1312907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11773862 MATN3 matrilin 3 gene DOID:65 connective tissue disease ISO RGD:1312907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:12736871|PMID:14729835|PMID:25741868|PMID:28146470|PMID:28492532 11773862 MATN3 matrilin 3 gene DOID:8398 osteoarthritis ISO RGD:1312907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteoarthritis susceptibility 2 PMID:12736871|PMID:14729835|PMID:25741868|PMID:28492532 11773862 MATN3 matrilin 3 gene DOID:8398 osteoarthritis susceptibility ISO RGD:1312907 D RGD:7240710 20230517 OMIM 11773862 MATN3 matrilin 3 gene DOID:9007064 Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type ISO RGD:1312907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia Matrilin-3 related | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, MATN3-related PMID:14729835|PMID:15121775|PMID:15459972|PMID:20301302|PMID:21965141|PMID:25741868|PMID:28492532|PMID:31724101 11773862 MATN3 matrilin 3 gene DOID:9007064 Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type susceptibility ISO RGD:1312907 D RGD:7240710 20230517 OMIM 11773876 SCRN2 secernin 2 gene DOID:630 genetic disease ISO RGD:1317110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773903 ASB12 ankyrin repeat and SOCS box containing 12 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11773903 ASB12 ankyrin repeat and SOCS box containing 12 gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1349928 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:25741868|PMID:9383023 11773903 ASB12 ankyrin repeat and SOCS box containing 12 gene DOID:0080215 developmental and epileptic encephalopathy 8 ISO RGD:1349928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 PMID:28492532 11773903 ASB12 ankyrin repeat and SOCS box containing 12 gene DOID:12849 autistic disorder ISO RGD:1349928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11773903 ASB12 ankyrin repeat and SOCS box containing 12 gene DOID:630 genetic disease ISO RGD:1349928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773921 LYPLA2 lysophospholipase 2 gene DOID:630 genetic disease ISO RGD:733893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773921 LYPLA2 lysophospholipase 2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:733893 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11773944 ZNF846 zinc finger protein 846 gene DOID:12849 autistic disorder ISO RGD:2298731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11773952 GAPVD1 GTPase activating protein and VPS9 domains 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606808 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11773997 CLIC6 chloride intracellular channel 6 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:735803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11773997 CLIC6 chloride intracellular channel 6 gene DOID:0060898 Parkinson's disease 20 ISO RGD:735803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 11773997 CLIC6 chloride intracellular channel 6 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:735803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11773997 CLIC6 chloride intracellular channel 6 gene DOID:0110648 long QT syndrome 6 ISO RGD:735803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 6 PMID:21626672|PMID:28492532 11773997 CLIC6 chloride intracellular channel 6 gene DOID:1588 thrombocytopenia ISO RGD:735803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 11773997 CLIC6 chloride intracellular channel 6 gene DOID:2661 myoepithelioma ISO RGD:735803 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11773997 CLIC6 chloride intracellular channel 6 gene DOID:630 genetic disease ISO RGD:735803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11773997 CLIC6 chloride intracellular channel 6 gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:735803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial thrombocytopenia with propensity to acute myelogenous leukemia PMID:18723428|PMID:24100448|PMID:28492532 11774012 GPRC5D G protein-coupled receptor class C group 5 member D gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1344418 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 11774012 GPRC5D G protein-coupled receptor class C group 5 member D gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1344418 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 11774012 GPRC5D G protein-coupled receptor class C group 5 member D gene DOID:630 genetic disease ISO RGD:1344418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774017 NR2C2 nuclear receptor subfamily 2 group C member 2 gene DOID:0060417 3p deletion syndrome ISO RGD:1353162 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 11774017 NR2C2 nuclear receptor subfamily 2 group C member 2 gene DOID:289 endometriosis ISO RGD:1353162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 11774017 NR2C2 nuclear receptor subfamily 2 group C member 2 gene DOID:630 genetic disease ISO RGD:1353162 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774017 NR2C2 nuclear receptor subfamily 2 group C member 2 gene DOID:9000596 Isolated Noncompaction of the Ventricular Myocardium ISO RGD:735810 D RGD:9068941 20200609 RGD PMID:21221781|REF_RGD_ID:7775017 11774045 ROMO1 reactive oxygen species modulator 1 gene DOID:5199 ureteral obstruction ISO RGD:1587111 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney PMID:28791399|REF_RGD_ID:13463462 11774045 ROMO1 reactive oxygen species modulator 1 gene DOID:630 genetic disease ISO RGD:1349152 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774055 TIGAR TP53 induced glycolysis regulatory phosphatase gene DOID:0050989 episodic ataxia type 1 ISO RGD:1317526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 11774055 TIGAR TP53 induced glycolysis regulatory phosphatase gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1317526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11774055 TIGAR TP53 induced glycolysis regulatory phosphatase gene DOID:630 genetic disease ISO RGD:1317526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774055 TIGAR TP53 induced glycolysis regulatory phosphatase gene DOID:9002955 Nerve Degeneration ISO RGD:1317526 D RGD:9068941 20210604 CTD CTD Direct Evidence: therapeutic PMID:33359019 11774055 TIGAR TP53 induced glycolysis regulatory phosphatase gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1317526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11774065 ZNF346 zinc finger protein 346 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1317625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11774065 ZNF346 zinc finger protein 346 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1317625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11774065 ZNF346 zinc finger protein 346 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1317625 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 11774065 ZNF346 zinc finger protein 346 gene DOID:630 genetic disease ISO RGD:1317625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774065 ZNF346 zinc finger protein 346 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1317625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11774065 ZNF346 zinc finger protein 346 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1317625 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 11774091 NSF N-ethylmaleimide sensitive factor, vesicle fusing ATPase gene DOID:3328 temporal lobe epilepsy ISO RGD:621594 D RGD:9068941 20200609 RGD protein:increased expression:forebrain, postsynaptic density PMID:11226670|REF_RGD_ID:5147998 11774091 NSF N-ethylmaleimide sensitive factor, vesicle fusing ATPase gene DOID:630 genetic disease ISO RGD:733160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774091 NSF N-ethylmaleimide sensitive factor, vesicle fusing ATPase gene DOID:9000688 Developmental and Epileptic Encephalopathy 96 ISO RGD:733160 D RGD:7240710 20210616 OMIM 11774091 NSF N-ethylmaleimide sensitive factor, vesicle fusing ATPase gene DOID:9000688 Developmental and Epileptic Encephalopathy 96 ISO RGD:733160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 96 PMID:25741868|PMID:31675180 11774115 TSGA10IP testis specific 10 interacting protein gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1346501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 11774115 TSGA10IP testis specific 10 interacting protein gene DOID:1059 intellectual disability ISO RGD:1346501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11774115 TSGA10IP testis specific 10 interacting protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1346501 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11774115 TSGA10IP testis specific 10 interacting protein gene DOID:2746 glycogen storage disease V ISO RGD:1346501 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11774115 TSGA10IP testis specific 10 interacting protein gene DOID:630 genetic disease ISO RGD:1346501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774115 TSGA10IP testis specific 10 interacting protein gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1346501 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11774115 TSGA10IP testis specific 10 interacting protein gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1346501 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11774144 UBXN2A UBX domain protein 2A gene DOID:630 genetic disease ISO RGD:1320427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774180 PMFBP1 polyamine modulated factor 1 binding protein 1 gene DOID:0111922 spermatogenic failure 31 ISO RGD:1345041 D RGD:7240710 20190315 OMIM 11774180 PMFBP1 polyamine modulated factor 1 binding protein 1 gene DOID:0111922 spermatogenic failure 31 ISO RGD:1345041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 31 PMID:25741868|PMID:30032984|PMID:30298696 11774180 PMFBP1 polyamine modulated factor 1 binding protein 1 gene DOID:12336 male infertility ISO RGD:732904 D RGD:9068941 20220825 MouseDO 11774180 PMFBP1 polyamine modulated factor 1 binding protein 1 gene DOID:630 genetic disease ISO RGD:1345041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774207 EDDM3B epididymal protein 3B gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1344731 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 11774207 EDDM3B epididymal protein 3B gene DOID:630 genetic disease ISO RGD:1344731 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774207 EDDM3B epididymal protein 3B gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1344731 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11774213 HAPLN4 hyaluronan and proteoglycan link protein 4 gene DOID:630 genetic disease ISO RGD:1348635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774213 HAPLN4 hyaluronan and proteoglycan link protein 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1348635 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 11774236 SAP25 Sin3A associated protein 25 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:5132311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11774236 SAP25 Sin3A associated protein 25 gene DOID:630 genetic disease ISO RGD:5132311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774296 FAAP100 FA core complex associated protein 100 gene DOID:630 genetic disease ISO RGD:1604593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774319 ZNF554 zinc finger protein 554 gene DOID:630 genetic disease ISO RGD:1346175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774319 ZNF554 zinc finger protein 554 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11774332 SNX24 sorting nexin 24 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1315725 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11774332 SNX24 sorting nexin 24 gene DOID:630 genetic disease ISO RGD:1315725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774332 SNX24 sorting nexin 24 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11774332 SNX24 sorting nexin 24 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315725 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11774332 SNX24 sorting nexin 24 gene DOID:9007386 Congenital Lower Urinary Tract Obstruction ISO RGD:1315725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital PMID:31690835 11774345 SPTBN1 spectrin beta, non-erythrocytic 1 gene DOID:0060040 pervasive developmental disorder ISO RGD:1351608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pervasive developmental disorder PMID:25741868 11774345 SPTBN1 spectrin beta, non-erythrocytic 1 gene DOID:0070052 autosomal dominant intellectual developmental disorder 22 ISO RGD:1351608 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 22 PMID:25741868 11774345 SPTBN1 spectrin beta, non-erythrocytic 1 gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1551425 D RGD:9068941 20220825 MouseDO OMIM:130650 11774345 SPTBN1 spectrin beta, non-erythrocytic 1 gene DOID:630 genetic disease ISO RGD:1351608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774345 SPTBN1 spectrin beta, non-erythrocytic 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1551425 D RGD:9068941 20200609 RGD PMID:16650383|REF_RGD_ID:1581318 11774345 SPTBN1 spectrin beta, non-erythrocytic 1 gene DOID:9000526 DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES ISO RGD:1351608 D RGD:7240710 20211020 OMIM 11774345 SPTBN1 spectrin beta, non-erythrocytic 1 gene DOID:9000526 DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES ISO RGD:1351608 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental delay, impaired speech, and behavioral abnormalities PMID:25741868|PMID:33847457|PMID:34211179 11774345 SPTBN1 spectrin beta, non-erythrocytic 1 gene DOID:9002589 Bone Fractures ISO RGD:1351608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22504420 11774345 SPTBN1 spectrin beta, non-erythrocytic 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351608 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33847457|PMID:34211179 11774345 SPTBN1 spectrin beta, non-erythrocytic 1 gene DOID:9004657 Weight Gain ISO RGD:1351608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11774345 SPTBN1 spectrin beta, non-erythrocytic 1 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1351608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:25741868 11774345 SPTBN1 spectrin beta, non-erythrocytic 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:1551425 D RGD:9068941 20200609 RGD PMID:12543979|REF_RGD_ID:1581319 11774392 OXER1 oxoeicosanoid receptor 1 gene DOID:3883 Lynch syndrome ISO RGD:1346676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11774392 OXER1 oxoeicosanoid receptor 1 gene DOID:630 genetic disease ISO RGD:1346676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774397 YBX1 Y-box binding protein 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:732883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11774397 YBX1 Y-box binding protein 1 gene DOID:630 genetic disease ISO RGD:732883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774397 YBX1 Y-box binding protein 1 gene DOID:9000300 Refractory Anemia ISO RGD:732883 D RGD:9068941 20200609 RGD PMID:14604279|REF_RGD_ID:1580637 11774397 YBX1 Y-box binding protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732883 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16012952 11774397 YBX1 Y-box binding protein 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:732883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28077578 11774397 YBX1 Y-box binding protein 1 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:732883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15703814 11774397 YBX1 Y-box binding protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15703814 11774409 MSX1 msh homeobox 1 gene DOID:0050460 Wolf-Hirschhorn syndrome ISO RGD:731562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14630905 11774409 MSX1 msh homeobox 1 gene DOID:0050563 nonsyndromic deafness ISO RGD:731562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27356075 11774409 MSX1 msh homeobox 1 gene DOID:0050567 orofacial cleft ISO RGD:731563 D RGD:9068941 20220825 MouseDO OMIM:119530 | OMIM:600625 | OMIM:600757 | OMIM:602966 | OMIM:608371 | OMIM:608864 | OMIM:608874 | OMIM:610361 | OMIM:612858 | OMIM:613705 | OMIM:613857 | OMIM:615892 11774409 MSX1 msh homeobox 1 gene DOID:0050591 tooth agenesis ISO RGD:731562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligodontia PMID:24914010 11774409 MSX1 msh homeobox 1 gene DOID:0080399 orofacial cleft 5 ISO RGD:731562 D RGD:7240710 20180130 OMIM 11774409 MSX1 msh homeobox 1 gene DOID:0080399 orofacial cleft 5 ISO RGD:731562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofacial cleft 5 PMID:12807959|PMID:15354328|PMID:16327884|PMID:16868654|PMID:21448236|PMID:25741868|PMID:28492532 11774409 MSX1 msh homeobox 1 gene DOID:11383 cryptorchidism ISO RGD:620929 D RGD:9068941 20200609 RGD PMID:18222913|REF_RGD_ID:5132606 11774409 MSX1 msh homeobox 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:731562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 11774409 MSX1 msh homeobox 1 gene DOID:13714 anodontia ISO RGD:731562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11774409 MSX1 msh homeobox 1 gene DOID:13714 anodontia ISO RGD:731562 D RGD:9068941 20200609 RGD autosomal dominant hypodontia, HYD1, OMIM:106600 PMID:8696335|REF_RGD_ID:1600484 11774409 MSX1 msh homeobox 1 gene DOID:630 genetic disease ISO RGD:731562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774409 MSX1 msh homeobox 1 gene DOID:6678 tooth and nail syndrome ISO RGD:731562 D RGD:7240710 20180130 OMIM 11774409 MSX1 msh homeobox 1 gene DOID:6678 tooth and nail syndrome ISO RGD:731562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:11369996|PMID:12807959|PMID:14630905|PMID:15354328|PMID:16327884|PMID:16868654|PMID:21448236|PMID:23991204|PMID:25741868|PMID:25874811|PMID:27917906|PMID:28166811|PMID:28492532|PMID:30192788|PMID:9484139|PMID:9742121 11774409 MSX1 msh homeobox 1 gene DOID:674 cleft palate ISO RGD:731562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12163415|PMID:12701100|PMID:15301380 11774409 MSX1 msh homeobox 1 gene DOID:674 cleft palate ISO RGD:731562 D RGD:9068941 20200609 RGD DNA:mutations, SNPs:multiple (human) PMID:12807959|REF_RGD_ID:5132609 11774409 MSX1 msh homeobox 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:731562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11774409 MSX1 msh homeobox 1 gene DOID:9005151 Selective Tooth Agenesis 1 ISO RGD:731562 D RGD:7240710 20190315 OMIM 11774409 MSX1 msh homeobox 1 gene DOID:9005151 Selective Tooth Agenesis 1 ISO RGD:731562 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 1 PMID:10742093|PMID:12097313|PMID:15264286|PMID:16498076|PMID:24914010|PMID:25741868|PMID:28492532|PMID:8696335|PMID:9742121 11774409 MSX1 msh homeobox 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:731562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:31837199 11774409 MSX1 msh homeobox 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:731562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12163415|PMID:14630905|PMID:14654219|PMID:15301380 11774409 MSX1 msh homeobox 1 gene DOID:9008763 Femoral Fractures ISO RGD:620929 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:bone, osteoblast, chondrocyte PMID:16451220|REF_RGD_ID:5132608 11774409 MSX1 msh homeobox 1 gene DOID:9009007 Tooth Abnormalities ISO RGD:731562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14630905 11774409 MSX1 msh homeobox 1 gene DOID:9296 cleft lip ISO RGD:731562 D RGD:9068941 20200609 RGD DNA:mutations, SNPs:multiple (human) PMID:12807959|REF_RGD_ID:5132609 11774415 CSN3 casein kappa gene DOID:305 carcinoma ISO RGD:1349233 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11774415 CSN3 casein kappa gene DOID:630 genetic disease ISO RGD:1349233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774415 CSN3 casein kappa gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1349233 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11774415 CSN3 casein kappa gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1349233 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11774415 CSN3 casein kappa gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1349233 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11774415 CSN3 casein kappa gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:61990 D RGD:9068941 20220324 RGD mRNA:increased expression:mammary gland (rat) PMID:16316942|REF_RGD_ID:2306898 11774424 SFR1 SWI5 dependent homologous recombination repair protein 1 gene DOID:630 genetic disease ISO RGD:1313532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774456 GABRR2 gamma-aminobutyric acid type A receptor subunit rho2 gene DOID:10003 sensorineural hearing loss ISO RGD:733076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27876815 11774456 GABRR2 gamma-aminobutyric acid type A receptor subunit rho2 gene DOID:12849 autistic disorder ISO RGD:733076 D RGD:9068941 20200611 RGD DNA:SNP: : PMID:16080114|REF_RGD_ID:6480256 11774456 GABRR2 gamma-aminobutyric acid type A receptor subunit rho2 gene DOID:3602 toxic encephalopathy ISO RGD:733076 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11774456 GABRR2 gamma-aminobutyric acid type A receptor subunit rho2 gene DOID:409 liver disease ISO RGD:733076 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11774456 GABRR2 gamma-aminobutyric acid type A receptor subunit rho2 gene DOID:630 genetic disease ISO RGD:733076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774469 DIP2C disco interacting protein 2 homolog C gene DOID:5409 lung small cell carcinoma ISO RGD:1346607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 11774469 DIP2C disco interacting protein 2 homolog C gene DOID:630 genetic disease ISO RGD:1346607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11774469 DIP2C disco interacting protein 2 homolog C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11774469 DIP2C disco interacting protein 2 homolog C gene DOID:9008086 Developmental Disabilities ISO RGD:1346607 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11774469 DIP2C disco interacting protein 2 homolog C gene DOID:9970 obesity ISO RGD:1346607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 11774516 KBTBD12 kelch repeat and BTB domain containing 12 gene DOID:0111947 immunodeficiency 21 ISO RGD:1603549 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 11774516 KBTBD12 kelch repeat and BTB domain containing 12 gene DOID:13938 amenorrhea ISO RGD:1603549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11774516 KBTBD12 kelch repeat and BTB domain containing 12 gene DOID:630 genetic disease ISO RGD:1603549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774516 KBTBD12 kelch repeat and BTB domain containing 12 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1603549 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 11774516 KBTBD12 kelch repeat and BTB domain containing 12 gene DOID:9270 alkaptonuria ISO RGD:1603549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11774525 DIPK1C divergent protein kinase domain 1C gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1353681 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11774525 DIPK1C divergent protein kinase domain 1C gene DOID:630 genetic disease ISO RGD:1353681 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774525 DIPK1C divergent protein kinase domain 1C gene DOID:6420 pulmonary valve stenosis ISO RGD:1353681 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 11774525 DIPK1C divergent protein kinase domain 1C gene DOID:8445 intestinal volvulus ISO RGD:1353681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11774525 DIPK1C divergent protein kinase domain 1C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11774525 DIPK1C divergent protein kinase domain 1C gene DOID:9008419 Volvulus Of Midgut ISO RGD:1353681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11774537 ZIC3 Zic family member 3 gene DOID:0050545 visceral heterotaxy ISO RGD:1557273 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 11774537 ZIC3 Zic family member 3 gene DOID:0060022 CD40 ligand deficiency ISO RGD:1347201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11774537 ZIC3 Zic family member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11774537 ZIC3 Zic family member 3 gene DOID:0060825 Christianson syndrome ISO RGD:1347201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11774537 ZIC3 Zic family member 3 gene DOID:0080006 bone development disease ISO RGD:1347201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17127413 11774537 ZIC3 Zic family member 3 gene DOID:0111766 X-linked VACTERL association ISO RGD:1347201 D RGD:7240710 20180130 OMIM 11774537 ZIC3 Zic family member 3 gene DOID:0111766 X-linked VACTERL association ISO RGD:1347201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus PMID:10980576|PMID:14681828|PMID:17764085|PMID:23427188|PMID:24033266|PMID:24123890|PMID:25741868|PMID:2629409|PMID:26294094|PMID:28492532|PMID:32753700 11774537 ZIC3 Zic family member 3 gene DOID:12849 autistic disorder ISO RGD:1347201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11774537 ZIC3 Zic family member 3 gene DOID:2907 Goldenhar syndrome ISO RGD:1557273 D RGD:9068941 20220825 MouseDO OMIM:164210 11774537 ZIC3 Zic family member 3 gene DOID:630 genetic disease ISO RGD:1347201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774537 ZIC3 Zic family member 3 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1347201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11774537 ZIC3 Zic family member 3 gene DOID:758 situs inversus ISO RGD:1347201 D RGD:9068941 20200609 RGD X-linked visceral heterotaxy, OMIM:306955 PMID:9354794|REF_RGD_ID:1599909 11774537 ZIC3 Zic family member 3 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1347201 D RGD:9068941 20200609 RGD X-linked visceral heterotaxy, OMIM:306955 PMID:9354794|REF_RGD_ID:1599909 11774537 ZIC3 Zic family member 3 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1347201 D RGD:7240710 20180130 OMIM 11774537 ZIC3 Zic family member 3 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1347201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 1, X-linked | ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked | ClinVar Annotator: match by term: Visceral heterotaxia PMID:10980576|PMID:14681828|PMID:15319456|PMID:15358621|PMID:16019685|PMID:17295247|PMID:17764085|PMID:18342287|PMID:18716025|PMID:21465648|PMID:23427188|PMID:23872418|PMID:24033266|PMID:24123890|PMID:25741868|PMID:26014430|PMID:2629409|PMID:26294094|PMID:27406248|PMID:28492532|PMID:30622330|PMID:32753700|PMID:3674105|PMID:9354794 11774537 ZIC3 Zic family member 3 gene DOID:9008310 Preaxial Polydactyly IV ISO RGD:1314554 D RGD:9068941 20200609 RGD PMID:22234993|REF_RGD_ID:12738220 11774537 ZIC3 Zic family member 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1347201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17127413 11774537 ZIC3 Zic family member 3 gene DOID:9008797 Facial Asymmetry ISO RGD:1347201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17127413 11774537 ZIC3 Zic family member 3 gene DOID:9565 dextrocardia ISO RGD:1347201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17127413 11774558 LRTM1 leucine rich repeats and transmembrane domains 1 gene DOID:630 genetic disease ISO RGD:1606530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774573 KCNK9 potassium two pore domain channel subfamily K member 9 gene DOID:0050675 Birk-Barel syndrome ISO RGD:734260 D RGD:7240710 20180130 OMIM 11774573 KCNK9 potassium two pore domain channel subfamily K member 9 gene DOID:0050675 Birk-Barel syndrome ISO RGD:734260 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Birk-Barel Intellectual Disability Dysmorphism Syndrome | ClinVar Annotator: match by term: Birk-Barel syndrome PMID:18678320|PMID:23236211|PMID:25326635|PMID:25741868|PMID:27151206|PMID:28333430|PMID:28882594|PMID:29165669|PMID:30690205|PMID:35698242 11774573 KCNK9 potassium two pore domain channel subfamily K member 9 gene DOID:0060041 autism spectrum disorder ISO RGD:734260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11774573 KCNK9 potassium two pore domain channel subfamily K member 9 gene DOID:1825 childhood absence epilepsy ISO RGD:734260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15781965 11774573 KCNK9 potassium two pore domain channel subfamily K member 9 gene DOID:630 genetic disease ISO RGD:734260 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10734076|PMID:25326635|PMID:25741868|PMID:29165669|PMID:35698242 11774573 KCNK9 potassium two pore domain channel subfamily K member 9 gene DOID:9008582 Developmental Disease ISO RGD:734260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11774583 NPBWR1 neuropeptides B and W receptor 1 gene DOID:5419 schizophrenia ISO RGD:1314235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11774583 NPBWR1 neuropeptides B and W receptor 1 gene DOID:630 genetic disease ISO RGD:1314235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774588 CROT carnitine O-octanoyltransferase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11774588 CROT carnitine O-octanoyltransferase gene DOID:630 genetic disease ISO RGD:732197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774588 CROT carnitine O-octanoyltransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11774588 CROT carnitine O-octanoyltransferase gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:70908 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle, cardiac muscle cell PMID:14618266|REF_RGD_ID:1599987 11774614 TMEM81 transmembrane protein 81 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606867 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11774614 TMEM81 transmembrane protein 81 gene DOID:12849 autistic disorder ISO RGD:1606867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11774614 TMEM81 transmembrane protein 81 gene DOID:1540 parathyroid carcinoma ISO RGD:1606867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11774614 TMEM81 transmembrane protein 81 gene DOID:630 genetic disease ISO RGD:1606867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774614 TMEM81 transmembrane protein 81 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606867 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11774614 TMEM81 transmembrane protein 81 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11774619 LMBRD2 LMBR1 domain containing 2 gene DOID:0060163 body dysmorphic disorder ISO RGD:1603597 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:25741868|PMID:32165824|PMID:32820033 11774619 LMBRD2 LMBR1 domain containing 2 gene DOID:14791 Leber congenital amaurosis ISO RGD:1603597 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Leber's amaurosis PMID:25741868|PMID:32165824|PMID:32820033 11774619 LMBRD2 LMBR1 domain containing 2 gene DOID:630 genetic disease ISO RGD:1603597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774619 LMBRD2 LMBR1 domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603597 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32820033 11774619 LMBRD2 LMBR1 domain containing 2 gene DOID:9005399 DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES ISO RGD:1603597 D RGD:7240710 20220316 OMIM 11774619 LMBRD2 LMBR1 domain containing 2 gene DOID:9005399 DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES ISO RGD:1603597 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Developmental delay with variable neurologic and brain abnormalities PMID:25741868|PMID:32165824|PMID:32820033 11774619 LMBRD2 LMBR1 domain containing 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1603597 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:32165824|PMID:32820033 11774644 CDC40 cell division cycle 40 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1316032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital pontocerebellar hypoplasia PMID:33220177 11774644 CDC40 cell division cycle 40 gene DOID:0112326 pontocerebellar hypoplasia type 15 ISO RGD:1316032 D RGD:7240710 20210505 OMIM 11774644 CDC40 cell division cycle 40 gene DOID:0112326 pontocerebellar hypoplasia type 15 ISO RGD:1316032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 15 PMID:33220177 11774644 CDC40 cell division cycle 40 gene DOID:630 genetic disease ISO RGD:1316032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774663 SPPL2B signal peptide peptidase like 2B gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1601988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 11774663 SPPL2B signal peptide peptidase like 2B gene DOID:630 genetic disease ISO RGD:1601988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774663 SPPL2B signal peptide peptidase like 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11774687 VARS2 valyl-tRNA synthetase 2, mitochondrial gene DOID:0050553 JMP syndrome ISO RGD:1346332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11774687 VARS2 valyl-tRNA synthetase 2, mitochondrial gene DOID:0111474 combined oxidative phosphorylation deficiency 1 ISO RGD:1346332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 PMID:25741868 11774687 VARS2 valyl-tRNA synthetase 2, mitochondrial gene DOID:0111478 combined oxidative phosphorylation deficiency 20 ISO RGD:1346332 D RGD:7240710 20180130 OMIM 11774687 VARS2 valyl-tRNA synthetase 2, mitochondrial gene DOID:0111478 combined oxidative phosphorylation deficiency 20 ISO RGD:1346332 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 20 PMID:12345|PMID:16199547|PMID:24827421|PMID:25058219|PMID:25741868|PMID:27290639|PMID:27502409|PMID:28492532|PMID:29313548|PMID:29314548|PMID:29478218|PMID:30458719|PMID:30925032|PMID:31064326|PMID:31623496 11774687 VARS2 valyl-tRNA synthetase 2, mitochondrial gene DOID:11372 megacolon ISO RGD:1346332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11774687 VARS2 valyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1346332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12345|PMID:24827421|PMID:25741868|PMID:27290639|PMID:27502409|PMID:28492532|PMID:29313548|PMID:29314548|PMID:29478218|PMID:30458719|PMID:30925032|PMID:31064326|PMID:31623496 11774687 VARS2 valyl-tRNA synthetase 2, mitochondrial gene DOID:9009098 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY ISO RGD:1346332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 11774734 PARL presenilin associated rhomboid like gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1314669 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11774734 PARL presenilin associated rhomboid like gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1314669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11774734 PARL presenilin associated rhomboid like gene DOID:0111546 Currarino syndrome ISO RGD:1314669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11774734 PARL presenilin associated rhomboid like gene DOID:1024 leprosy ISO RGD:1314669 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 11774734 PARL presenilin associated rhomboid like gene DOID:11830 myopia ISO RGD:1314669 D RGD:9068941 20200609 RGD DNA:snp:intron:c.511+3941G>A (rs6775202)(human) PMID:18846214|REF_RGD_ID:12902630 11774734 PARL presenilin associated rhomboid like gene DOID:2018 hyperinsulinism ISO RGD:1314669 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L262V (human) PMID:15729572|REF_RGD_ID:12880443 11774734 PARL presenilin associated rhomboid like gene DOID:2018 hyperinsulinism no_association ISO RGD:1314669 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L262V (human) PMID:19185381|REF_RGD_ID:12880445 11774734 PARL presenilin associated rhomboid like gene DOID:224 transient cerebral ischemia severity ISO RGD:1550418 D RGD:9068941 20200609 RGD PMID:23921894|REF_RGD_ID:12902620 11774734 PARL presenilin associated rhomboid like gene DOID:3393 coronary artery disease susceptibility ISO RGD:1314669 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L262V (human) PMID:18758826|REF_RGD_ID:12902623 11774734 PARL presenilin associated rhomboid like gene DOID:3459 breast carcinoma severity ISO RGD:1314669 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:24185965|REF_RGD_ID:12902629 11774734 PARL presenilin associated rhomboid like gene DOID:3652 Leigh disease ISO RGD:1550418 D RGD:9068941 20220825 MouseDO OMIM:220111 | OMIM:256000 11774734 PARL presenilin associated rhomboid like gene DOID:630 genetic disease ISO RGD:1314669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774734 PARL presenilin associated rhomboid like gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1314669 D RGD:9068941 20200609 RGD DNA:snps:introns:c.126-157G>A (rs3749446), c.321+112A>G (rs1402000) (human) PMID:20407791|REF_RGD_ID:12902617 11774734 PARL presenilin associated rhomboid like gene DOID:705 Leber hereditary optic neuropathy no_association ISO RGD:1314669 D RGD:9068941 20200609 RGD DNA:snps:introns:c.126-157G>A (rs3749446), c.321+112A>G (rs1402000) (human) PMID:20711738|REF_RGD_ID:12902618 11774734 PARL presenilin associated rhomboid like gene DOID:9007346 Cachexia ISO RGD:1550418 D RGD:9068941 20200609 RGD PMID:16839884|REF_RGD_ID:12902627 11774734 PARL presenilin associated rhomboid like gene DOID:9007692 Insulin Resistance ISO RGD:1306191 D RGD:9068941 20200609 RGD mRNA:decreased expression:gastrocnemius (rat) PMID:19859837|REF_RGD_ID:12880442 11774734 PARL presenilin associated rhomboid like gene DOID:9352 type 2 diabetes mellitus ISO RGD:1314669 D RGD:9068941 20200609 RGD mRNA:decreased expression:vastus lateralis (human) PMID:20444421|REF_RGD_ID:12902628 11774734 PARL presenilin associated rhomboid like gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:1314669 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L262V (human) PMID:19185381|REF_RGD_ID:12880445 11774750 VPS26B VPS26 retromer complex component B gene DOID:0111723 Jacobsen Syndrome ISO RGD:1603929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11774750 VPS26B VPS26 retromer complex component B gene DOID:5419 schizophrenia ISO RGD:1603929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11774750 VPS26B VPS26 retromer complex component B gene DOID:630 genetic disease ISO RGD:1603929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774750 VPS26B VPS26 retromer complex component B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11774750 VPS26B VPS26 retromer complex component B gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1603929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:16857760|PMID:21109224|PMID:23255084|PMID:28492532 11774760 SEMA4F ssemaphorin 4F gene DOID:1790 malignant mesothelioma ISO RGD:735857 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 11774760 SEMA4F ssemaphorin 4F gene DOID:630 genetic disease ISO RGD:735857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774784 NMNAT3 nicotinamide nucleotide adenylyltransferase 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1319314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11774784 NMNAT3 nicotinamide nucleotide adenylyltransferase 3 gene DOID:1686 glaucoma treatment ISO RGD:1309140 D RGD:9068941 20200609 RGD PMID:24136224|REF_RGD_ID:13782046 11774784 NMNAT3 nicotinamide nucleotide adenylyltransferase 3 gene DOID:630 genetic disease ISO RGD:1319314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774800 TNNT1 troponin T1, slow skeletal type gene DOID:0050700 cardiomyopathy ISO RGD:733051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 11774800 TNNT1 troponin T1, slow skeletal type gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:733051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 11774800 TNNT1 troponin T1, slow skeletal type gene DOID:0110313 hypertrophic cardiomyopathy 7 ISO RGD:733051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7 PMID:24033266|PMID:25741868|PMID:28492532 11774800 TNNT1 troponin T1, slow skeletal type gene DOID:0110460 dilated cardiomyopathy 2A ISO RGD:733051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 2A PMID:24033266|PMID:25741868|PMID:28492532 11774800 TNNT1 troponin T1, slow skeletal type gene DOID:0110936 nemaline myopathy 5 ISO RGD:733051 D RGD:7240710 20180130 OMIM 11774800 TNNT1 troponin T1, slow skeletal type gene DOID:0110936 nemaline myopathy 5 ISO RGD:733051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5 PMID:10952871|PMID:12732643|PMID:15665378|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20301465|PMID:24033266|PMID:24689076|PMID:25430424|PMID:25712079|PMID:25741868|PMID:26296490|PMID:26467025|PMID:27429059|PMID:27790152|PMID:28492532|PMID:29178646|PMID:9536098 11774800 TNNT1 troponin T1, slow skeletal type gene DOID:0111425 restrictive cardiomyopathy 1 ISO RGD:733051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 PMID:24033266|PMID:25741868|PMID:28492532 11774800 TNNT1 troponin T1, slow skeletal type gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:733051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532 11774800 TNNT1 troponin T1, slow skeletal type gene DOID:12930 dilated cardiomyopathy ISO RGD:733051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532 11774800 TNNT1 troponin T1, slow skeletal type gene DOID:3191 nemaline myopathy ISO RGD:733051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Recessive PMID:24033266|PMID:25741868|PMID:28492532 11774800 TNNT1 troponin T1, slow skeletal type gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:733051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532 11774800 TNNT1 troponin T1, slow skeletal type gene DOID:397 restrictive cardiomyopathy ISO RGD:733051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532 11774800 TNNT1 troponin T1, slow skeletal type gene DOID:423 myopathy ISO RGD:733051 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Myopathy 11774800 TNNT1 troponin T1, slow skeletal type gene DOID:630 genetic disease ISO RGD:733051 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10952871|PMID:12732643|PMID:17576681|PMID:24689076|PMID:25430424|PMID:25712079|PMID:25741868|PMID:26296490|PMID:27790152|PMID:28492532|PMID:9536098 11774800 TNNT1 troponin T1, slow skeletal type gene DOID:9562 primary ciliary dyskinesia ISO RGD:733051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:22387996|PMID:24033266|PMID:25741868|PMID:28492532 11774822 CGREF1 cell growth regulator with EF-hand domain 1 gene DOID:0111680 essential fructosuria ISO RGD:1353373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential fructosuria PMID:28492532 11774822 CGREF1 cell growth regulator with EF-hand domain 1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1353373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11774822 CGREF1 cell growth regulator with EF-hand domain 1 gene DOID:630 genetic disease ISO RGD:1353373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774822 CGREF1 cell growth regulator with EF-hand domain 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1353373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 11774846 C1QL1 complement C1q like 1 gene DOID:630 genetic disease ISO RGD:1314427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774851 RAET1G retinoic acid early transcript 1G gene DOID:630 genetic disease ISO RGD:1343371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774860 GRID2 glutamate ionotropic receptor delta type subunit 2 gene DOID:0050886 Troyer syndrome ISO RGD:68527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Troyer syndrome PMID:24122788 11774860 GRID2 glutamate ionotropic receptor delta type subunit 2 gene DOID:0080042 autosomal recessive spinocerebellar ataxia 18 ISO RGD:68527 D RGD:7240710 20180130 OMIM 11774860 GRID2 glutamate ionotropic receptor delta type subunit 2 gene DOID:0080042 autosomal recessive spinocerebellar ataxia 18 ISO RGD:68527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 18 PMID:23611888|PMID:24078737|PMID:25741868|PMID:27980096|PMID:28492532 11774860 GRID2 glutamate ionotropic receptor delta type subunit 2 gene DOID:5419 schizophrenia ISO RGD:68527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11774860 GRID2 glutamate ionotropic receptor delta type subunit 2 gene DOID:630 genetic disease ISO RGD:68527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10725919|PMID:15970596|PMID:28492532|PMID:9285588 11774860 GRID2 glutamate ionotropic receptor delta type subunit 2 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:68527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11774880 CLDN12 claudin 12 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11774880 CLDN12 claudin 12 gene DOID:630 genetic disease ISO RGD:1314174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774895 SEMA5A semaphorin 5A gene DOID:1059 intellectual disability ISO RGD:1318544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11774895 SEMA5A semaphorin 5A gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1318544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25648254 11774895 SEMA5A semaphorin 5A gene DOID:12849 autistic disorder ISO RGD:1318544 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17028446 11774895 SEMA5A semaphorin 5A gene DOID:630 genetic disease ISO RGD:1318544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774934 BTG2 BTG anti-proliferation factor 2 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:2225 D RGD:9068941 20200609 RGD mRNA:increased expression:liver, kidney, pancreas PMID:9712737|REF_RGD_ID:2289078 11774934 BTG2 BTG anti-proliferation factor 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:69157 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11774934 BTG2 BTG anti-proliferation factor 2 gene DOID:1540 parathyroid carcinoma ISO RGD:69157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11774934 BTG2 BTG anti-proliferation factor 2 gene DOID:1612 breast cancer ISO RGD:69157 D RGD:9068941 20200609 RGD protein:decreased expression:breast, nucleus PMID:16849553|REF_RGD_ID:2289068 11774934 BTG2 BTG anti-proliferation factor 2 gene DOID:2316 brain ischemia ISO RGD:2225 D RGD:9068941 20200609 RGD mRNA:increased expression:forebrain (rat) PMID:7684483|REF_RGD_ID:2289081 11774934 BTG2 BTG anti-proliferation factor 2 gene DOID:4450 renal cell carcinoma ISO RGD:69157 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:14996721|REF_RGD_ID:2289069 11774934 BTG2 BTG anti-proliferation factor 2 gene DOID:630 genetic disease ISO RGD:69157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774934 BTG2 BTG anti-proliferation factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:69157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18393292 11774934 BTG2 BTG anti-proliferation factor 2 gene DOID:8634 prostate carcinoma in situ ISO RGD:69157 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:11470758|REF_RGD_ID:2289070 11774934 BTG2 BTG anti-proliferation factor 2 gene DOID:9001341 Chloracne ISO RGD:69157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 11774934 BTG2 BTG anti-proliferation factor 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69157 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:11470758|REF_RGD_ID:2289070 11774934 BTG2 BTG anti-proliferation factor 2 gene DOID:9004009 Reperfusion Injury ISO RGD:2225 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:9712737|REF_RGD_ID:2289078 11774934 BTG2 BTG anti-proliferation factor 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:69157 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11774934 BTG2 BTG anti-proliferation factor 2 gene DOID:9004922 Spinal Cord Ischemia ISO RGD:2225 D RGD:9068941 20200609 RGD PMID:14697320|REF_RGD_ID:2289074 11774934 BTG2 BTG anti-proliferation factor 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2225 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:12909328|REF_RGD_ID:2289075 11774934 BTG2 BTG anti-proliferation factor 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:69157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11774940 ISCU iron-sulfur cluster assembly enzyme gene DOID:10591 pre-eclampsia ISO RGD:1607067 D RGD:9068941 20221103 RGD mRNA:decreased expression:chorionic villus (human) PMID:22840297|REF_RGD_ID:155631283 11774940 ISCU iron-sulfur cluster assembly enzyme gene DOID:423 myopathy ISO RGD:1607067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:28492532 11774940 ISCU iron-sulfur cluster assembly enzyme gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:1607067 D RGD:9068941 20220930 RGD mRNA,protein:decreased expression:kidney (human) PMID:23449350|REF_RGD_ID:155260320 11774940 ISCU iron-sulfur cluster assembly enzyme gene DOID:630 genetic disease ISO RGD:1607067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11774940 ISCU iron-sulfur cluster assembly enzyme gene DOID:9006323 Myopathy with Lactic Acidosis, Hereditary ISO RGD:1607067 D RGD:7240710 20180130 OMIM 11774940 ISCU iron-sulfur cluster assembly enzyme gene DOID:9006323 Myopathy with Lactic Acidosis, Hereditary ISO RGD:1607067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy with lactic acidosis, hereditary PMID:18296749|PMID:18304497|PMID:19567699|PMID:19846308|PMID:20206689|PMID:21165651|PMID:22125086|PMID:25741868|PMID:28492532|PMID:30209894 11774955 KLRD1 killer cell lectin like receptor D1 gene DOID:630 genetic disease ISO RGD:735531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774970 TNFRSF21 TNF receptor superfamily member 21 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1316426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24113175 11774970 TNFRSF21 TNF receptor superfamily member 21 gene DOID:630 genetic disease ISO RGD:1316426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11774970 TNFRSF21 TNF receptor superfamily member 21 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11753679 11774970 TNFRSF21 TNF receptor superfamily member 21 gene DOID:9007402 Gliosis ISO RGD:1316426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24113175 11774980 HOATZ HOATZ cilia and flagella associated protein gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1602158 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 11774980 HOATZ HOATZ cilia and flagella associated protein gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1602158 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 11774980 HOATZ HOATZ cilia and flagella associated protein gene DOID:1059 intellectual disability ISO RGD:1602158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11774980 HOATZ HOATZ cilia and flagella associated protein gene DOID:12704 ataxia telangiectasia ISO RGD:1602158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11774980 HOATZ HOATZ cilia and flagella associated protein gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1602158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11774980 HOATZ HOATZ cilia and flagella associated protein gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1602158 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 11774993 SMAP1 small ArfGAP 1 gene DOID:630 genetic disease ISO RGD:1347252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775013 TRIM3 tripartite motif containing 3 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:731725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11775013 TRIM3 tripartite motif containing 3 gene DOID:630 genetic disease ISO RGD:731725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775051 SERPINB12 serpin family B member 12 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1343942 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11775051 SERPINB12 serpin family B member 12 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1343942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 11775051 SERPINB12 serpin family B member 12 gene DOID:630 genetic disease ISO RGD:1343942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775073 ZNF688 zinc finger protein 688 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1602068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11775073 ZNF688 zinc finger protein 688 gene DOID:630 genetic disease ISO RGD:1602068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775106 DGLUCY D-glutamate cyclase gene DOID:0080054 achondrogenesis type IA ISO RGD:1323376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11775106 DGLUCY D-glutamate cyclase gene DOID:630 genetic disease ISO RGD:1323376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775139 CCDC63 coiled-coil domain containing 63 gene DOID:1909 melanoma ISO RGD:1604733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 11775139 CCDC63 coiled-coil domain containing 63 gene DOID:630 genetic disease ISO RGD:1604733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775170 SOST sclerostin gene DOID:0060251 sclerosteosis ISO RGD:737334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11775170 SOST sclerostin gene DOID:0060251 sclerosteosis ISO RGD:737334 D RGD:9068941 20200609 RGD DNA:transition: :69C>T (human) PMID:11179006|REF_RGD_ID:68858 11775170 SOST sclerostin gene DOID:0060756 sclerosteosis 1 ISO RGD:737334 D RGD:7240710 20180314 OMIM 11775170 SOST sclerostin gene DOID:0060756 sclerosteosis 1 ISO RGD:737334 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Sclerosteosis 1 PMID:11179006|PMID:11181578|PMID:19072561|PMID:25741868|PMID:25984533|PMID:28492532 11775170 SOST sclerostin gene DOID:0080006 bone development disease ISO RGD:737334 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sclerosing Bone Dysplasias PMID:28492532 11775170 SOST sclerostin gene DOID:0080036 SOST-related sclerosing bone dysplasia ISO RGD:737335 D RGD:9068941 20230506 MouseDO OMIM:239100 11775170 SOST sclerostin gene DOID:0080807 autosomal dominant craniodiaphyseal dysplasia ISO RGD:737334 D RGD:7240710 20180130 OMIM 11775170 SOST sclerostin gene DOID:0080807 autosomal dominant craniodiaphyseal dysplasia ISO RGD:737334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniodiaphyseal dysplasia, autosomal dominant PMID:17853455|PMID:21221996 11775170 SOST sclerostin gene DOID:630 genetic disease ISO RGD:737334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11775177 DERL3 derlin 3 gene DOID:0070045 Coffin-Siris syndrome 3 ISO RGD:1353725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 11775177 DERL3 derlin 3 gene DOID:0081135 agammaglobulinemia 2 ISO RGD:1353725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 11775177 DERL3 derlin 3 gene DOID:1826 epilepsy ISO RGD:1353725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11775177 DERL3 derlin 3 gene DOID:2129 atypical teratoid rhabdoid tumor ISO RGD:1353725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 PMID:28492532 11775177 DERL3 derlin 3 gene DOID:5419 schizophrenia ISO RGD:1353725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11775177 DERL3 derlin 3 gene DOID:630 genetic disease ISO RGD:1353725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775221 LOC100968601 small proline-rich protein 2F gene DOID:0111940 immunodeficiency 42 ISO RGD:1350197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11775221 LOC100968601 small proline-rich protein 2F gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1350197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11775221 LOC100968601 small proline-rich protein 2F gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1350197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11775221 LOC100968601 small proline-rich protein 2F gene DOID:1540 parathyroid carcinoma ISO RGD:1350197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11775221 LOC100968601 small proline-rich protein 2F gene DOID:5812 MHC class II deficiency ISO RGD:1350197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11775221 LOC100968601 small proline-rich protein 2F gene DOID:630 genetic disease ISO RGD:1350197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775221 LOC100968601 small proline-rich protein 2F gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11775227 GNAT2 G protein subunit alpha transducin 2 gene DOID:0050795 cone dystrophy ISO RGD:1319893 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:25741868|PMID:28492532|PMID:31058429 11775227 GNAT2 G protein subunit alpha transducin 2 gene DOID:0110010 achromatopsia 4 ISO RGD:1319893 D RGD:7240710 20180130 OMIM 11775227 GNAT2 G protein subunit alpha transducin 2 gene DOID:0110010 achromatopsia 4 ISO RGD:1319893 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Achromatopsia 4 PMID:12077706|PMID:12205108|PMID:15557429|PMID:18643908|PMID:21107338|PMID:25741868|PMID:27208204|PMID:28492532|PMID:31058429|PMID:31144483 11775227 GNAT2 G protein subunit alpha transducin 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1319893 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11775227 GNAT2 G protein subunit alpha transducin 2 gene DOID:12849 autistic disorder ISO RGD:1319893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11775227 GNAT2 G protein subunit alpha transducin 2 gene DOID:13399 color blindness ISO RGD:1319893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12077706 11775227 GNAT2 G protein subunit alpha transducin 2 gene DOID:13399 color blindness ISO RGD:1319893 D RGD:9068941 20200609 RGD PMID:12077706|REF_RGD_ID:1599034 11775227 GNAT2 G protein subunit alpha transducin 2 gene DOID:13911 achromatopsia ISO RGD:1319893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:25741868 11775227 GNAT2 G protein subunit alpha transducin 2 gene DOID:630 genetic disease ISO RGD:1319893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11775227 GNAT2 G protein subunit alpha transducin 2 gene DOID:8501 fundus dystrophy ISO RGD:1319893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 11775227 GNAT2 G protein subunit alpha transducin 2 gene DOID:9008296 Eye Abnormalities ISO RGD:1319893 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:28041643 11775240 VILL villin like gene DOID:0050451 Brugada syndrome ISO RGD:1347824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 11775240 VILL villin like gene DOID:630 genetic disease ISO RGD:1347824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775240 VILL villin like gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1347824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 11775273 PIGC phosphatidylinositol glycan anchor biosynthesis class C gene DOID:0081223 glycosylphosphatidylinositol biosynthesis defect 16 ISO RGD:1322738 D RGD:7240710 20190315 OMIM 11775273 PIGC phosphatidylinositol glycan anchor biosynthesis class C gene DOID:0081223 glycosylphosphatidylinositol biosynthesis defect 16 ISO RGD:1322738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 16 PMID:25741868|PMID:25741900|PMID:27694521|PMID:28492532 11775273 PIGC phosphatidylinositol glycan anchor biosynthesis class C gene DOID:1540 parathyroid carcinoma ISO RGD:1322738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11775273 PIGC phosphatidylinositol glycan anchor biosynthesis class C gene DOID:630 genetic disease ISO RGD:1322738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11775273 PIGC phosphatidylinositol glycan anchor biosynthesis class C gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1322738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 11775273 PIGC phosphatidylinositol glycan anchor biosynthesis class C gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1322738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 11775273 PIGC phosphatidylinositol glycan anchor biosynthesis class C gene DOID:9008086 Developmental Disabilities ISO RGD:1322738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741900 11775273 PIGC phosphatidylinositol glycan anchor biosynthesis class C gene DOID:9008386 Hydrops Fetalis ISO RGD:1322738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 11775273 PIGC phosphatidylinositol glycan anchor biosynthesis class C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11775285 TMEM262 transmembrane protein 262 gene DOID:630 genetic disease ISO RGD:7409565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775295 CS citrate synthase gene DOID:0050700 cardiomyopathy ISO RGD:1606843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14568902 11775295 CS citrate synthase gene DOID:0050852 limb ischemia ISO RGD:620330 D RGD:9068941 20230413 RGD PMID:571116|REF_RGD_ID:243049254 11775295 CS citrate synthase gene DOID:0060224 atrial fibrillation ISO RGD:733217 D RGD:9068941 20230406 RGD protein:decreased expression:left cardiac atrium PMID:35013064|REF_RGD_ID:243048475 11775295 CS citrate synthase gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1606843 D RGD:9068941 20230406 RGD PMID:10354207|REF_RGD_ID:243048483 11775295 CS citrate synthase gene DOID:12930 dilated cardiomyopathy ISO RGD:1606843 D RGD:9068941 20230406 RGD PMID:10354207|PMID:8252591|REF_RGD_ID:243048472|REF_RGD_ID:243048483 11775295 CS citrate synthase gene DOID:1459 hypothyroidism ISO RGD:620330 D RGD:9068941 20230406 RGD PMID:15817832|PMID:29748131|REF_RGD_ID:243048477|REF_RGD_ID:243048482 11775295 CS citrate synthase gene DOID:3312 bipolar disorder ISO RGD:620330 D RGD:9068941 20230427 RGD protein decreased expression:brain PMID:24359811|REF_RGD_ID:329337349 11775295 CS citrate synthase gene DOID:3312 bipolar disorder ISO RGD:620330 D RGD:9068941 20230427 RGD protein decreased expression:prefrontal cortex PMID:20372980|REF_RGD_ID:329337348 11775295 CS citrate synthase gene DOID:3312 bipolar disorder treatment ISO RGD:620330 D RGD:9068941 20230427 RGD PMID:17367908|REF_RGD_ID:329337351 11775295 CS citrate synthase gene DOID:5844 myocardial infarction ISO RGD:733217 D RGD:9068941 20230406 RGD protein:decreased expression:diaphragm, mitochondrion PMID:34416105|REF_RGD_ID:243048471 11775295 CS citrate synthase gene DOID:5844 myocardial infarction severity ISO RGD:620330 D RGD:9068941 20230406 RGD PMID:1877670|REF_RGD_ID:243048469 11775295 CS citrate synthase gene DOID:6000 congestive heart failure ISO RGD:1606843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8922916 11775295 CS citrate synthase gene DOID:6000 congestive heart failure ISO RGD:620330 D RGD:9068941 20230406 RGD associated with pulmonary hypertension PMID:23099843|REF_RGD_ID:243048480 11775295 CS citrate synthase gene DOID:6000 congestive heart failure severity ISO RGD:620330 D RGD:9068941 20230413 RGD PMID:7484170|REF_RGD_ID:243049253 11775295 CS citrate synthase gene DOID:6000 congestive heart failure treatment ISO RGD:620330 D RGD:9068941 20230406 RGD PMID:28492791|REF_RGD_ID:243048466 11775295 CS citrate synthase gene DOID:630 genetic disease ISO RGD:1606843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11775295 CS citrate synthase gene DOID:7998 hyperthyroidism ISO RGD:620330 D RGD:9068941 20230406 RGD PMID:15817832|REF_RGD_ID:243048477 11775295 CS citrate synthase gene DOID:9001747 Ventricular Dysfunction, Left treatment ISO RGD:620330 D RGD:9068941 20230406 RGD PMID:31403269|REF_RGD_ID:243048473 11775295 CS citrate synthase gene DOID:9002055 Chronic Allograft Nephropathy treatment ISO RGD:620330 D RGD:9068941 20230406 RGD PMID:20005400|REF_RGD_ID:243048470 11775295 CS citrate synthase gene DOID:9002159 Liver Reperfusion Injury ISO RGD:620330 D RGD:9068941 20230406 RGD PMID:25416448|REF_RGD_ID:13504849 11775295 CS citrate synthase gene DOID:9002669 Hypoxia ISO RGD:1606843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 11775295 CS citrate synthase gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620330 D RGD:9068941 20230406 RGD PMID:15132986|REF_RGD_ID:243048479 11775295 CS citrate synthase gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:620330 D RGD:9068941 20230406 RGD PMID:15569775|REF_RGD_ID:243048481 11775295 CS citrate synthase gene DOID:9003936 Cardiomegaly ISO RGD:620330 D RGD:9068941 20230406 RGD PMID:12941647|REF_RGD_ID:243048478 11775295 CS citrate synthase gene DOID:9004484 Sepsis ISO RGD:620330 D RGD:9068941 20230427 RGD protein:decreased expression:cerebral cortex PMID:25299715|REF_RGD_ID:329337347 11775295 CS citrate synthase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620330 D RGD:9068941 20230427 RGD protein decreased expression:heart, soleus PMID:12077722|REF_RGD_ID:329337354 11775295 CS citrate synthase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620330 D RGD:9068941 20230427 RGD protein:increased expression:hippocampus PMID:21088877|REF_RGD_ID:329337352 11775295 CS citrate synthase gene DOID:9005930 Endotoxemia ISO RGD:620330 D RGD:9068941 20230427 RGD protein:increased expression:gastrocnemius PMID:25674200|REF_RGD_ID:329337350 11775295 CS citrate synthase gene DOID:9970 obesity ISO RGD:1606843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 11775318 PLXNB3 plexin B3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1350171 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11775318 PLXNB3 plexin B3 gene DOID:0050476 Barth syndrome ISO RGD:1350171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11775318 PLXNB3 plexin B3 gene DOID:0050800 creatine transporter deficiency ISO RGD:1350171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 11775318 PLXNB3 plexin B3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11775318 PLXNB3 plexin B3 gene DOID:0080574 congenital disorder of glycosylation Iy ISO RGD:1350171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y 11775318 PLXNB3 plexin B3 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1350171 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 11775318 PLXNB3 plexin B3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1350171 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11775318 PLXNB3 plexin B3 gene DOID:10588 adrenoleukodystrophy ISO RGD:1350171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11775318 PLXNB3 plexin B3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1350171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11775318 PLXNB3 plexin B3 gene DOID:12849 autistic disorder ISO RGD:1350171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11775318 PLXNB3 plexin B3 gene DOID:13628 favism ISO RGD:1350171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11775318 PLXNB3 plexin B3 gene DOID:2729 dyskeratosis congenita ISO RGD:1350171 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11775318 PLXNB3 plexin B3 gene DOID:607 paraplegia ISO RGD:1350171 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11775318 PLXNB3 plexin B3 gene DOID:630 genetic disease ISO RGD:1350171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775318 PLXNB3 plexin B3 gene DOID:9002720 Splenomegaly ISO RGD:1350171 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11775318 PLXNB3 plexin B3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11775376 TKT transketolase gene DOID:2384 Wernicke encephalopathy ISO RGD:732645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3762968 11775376 TKT transketolase gene DOID:305 carcinoma ISO RGD:732645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11775376 TKT transketolase gene DOID:630 genetic disease ISO RGD:732645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775376 TKT transketolase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:732645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11775376 TKT transketolase gene DOID:9002669 Hypoxia ISO RGD:732645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 11775376 TKT transketolase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15654357 11775376 TKT transketolase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11775376 TKT transketolase gene DOID:9008862 Short Stature, Developmental Delay, and Congenital Heart Defects ISO RGD:732645 D RGD:7240710 20190315 OMIM 11775376 TKT transketolase gene DOID:9008862 Short Stature, Developmental Delay, and Congenital Heart Defects ISO RGD:732645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transketolase deficiency PMID:25741868|PMID:27259054|PMID:28492532 11775394 ZNF615 zinc finger protein 615 gene DOID:630 genetic disease ISO RGD:1353580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775428 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1317663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11775428 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:0110170 Charcot-Marie-Tooth disease axonal type 2Q ISO RGD:1317663 D RGD:7240710 20180130 OMIM 11775428 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:0110170 Charcot-Marie-Tooth disease axonal type 2Q ISO RGD:1317663 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2Q PMID:16199547|PMID:23141293|PMID:23141294|PMID:25326637|PMID:25741868|PMID:25860818|PMID:28492532|PMID:29669943 11775428 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:0111453 2-aminoadipic 2-oxoadipic aciduria ISO RGD:1317663 D RGD:7240710 20180130 OMIM 11775428 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:0111453 2-aminoadipic 2-oxoadipic aciduria ISO RGD:1317663 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: 2-KETOADIPIC ACIDURIA | ClinVar Annotator: match by term: 2-aminoadipic 2-oxoadipic aciduria PMID:16199547|PMID:17576681|PMID:23141293|PMID:25326637|PMID:25640679|PMID:25741868|PMID:25860818|PMID:26141459|PMID:27582484|PMID:28454995|PMID:28492532|PMID:29127259|PMID:29669943|PMID:29752936|PMID:29858556|PMID:30896807|PMID:32005694|PMID:32160276|PMID:32303640|PMID:32695416|PMID:32860008|PMID:33369814|PMID:34169998|PMID:8069629|PMID:9536098 11775428 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:1184 nephrotic syndrome ISO RGD:1317663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:28492532|PMID:29127259 11775428 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:574 peripheral nervous system disease ISO RGD:1317663 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 11775428 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:630 genetic disease ISO RGD:1317663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23141293|PMID:25326637|PMID:25741868|PMID:25860818|PMID:26141459|PMID:27582484|PMID:28454995|PMID:28492532|PMID:29752936|PMID:29858556|PMID:32160276|PMID:32303640|PMID:32695416|PMID:32860008|PMID:33369814|PMID:8069629|PMID:9536098 11775428 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:870 neuropathy ISO RGD:1317663 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 11775428 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317663 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11775449 NOL6 nucleolar protein 6 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1317567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11775449 NOL6 nucleolar protein 6 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1317567 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11775449 NOL6 nucleolar protein 6 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1317567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11775449 NOL6 nucleolar protein 6 gene DOID:630 genetic disease ISO RGD:1317567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775449 NOL6 nucleolar protein 6 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11775449 NOL6 nucleolar protein 6 gene DOID:9870 galactosemia ISO RGD:1317567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11775489 KLF17 KLF transcription factor 17 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11775489 KLF17 KLF transcription factor 17 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1344784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11775489 KLF17 KLF transcription factor 17 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11775489 KLF17 KLF transcription factor 17 gene DOID:630 genetic disease ISO RGD:1344784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775508 ELF2 E74 like ETS transcription factor 2 gene DOID:630 genetic disease ISO RGD:1321579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775508 ELF2 E74 like ETS transcription factor 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1321579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11775508 ELF2 E74 like ETS transcription factor 2 gene DOID:9009139 Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome ISO RGD:1321579 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome PMID:29628936 11775551 PRKCI protein kinase C iota gene DOID:0060611 abdominal obesity-metabolic syndrome ISO RGD:1331958 D RGD:9068941 20220825 MouseDO 11775551 PRKCI protein kinase C iota gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:732937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 11775551 PRKCI protein kinase C iota gene DOID:1062 Fanconi syndrome ISO RGD:732937 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 11775551 PRKCI protein kinase C iota gene DOID:12849 autistic disorder ISO RGD:732937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20957522 11775551 PRKCI protein kinase C iota gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:732937 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:breast, cytoplasm PMID:18538170|REF_RGD_ID:2314932 11775551 PRKCI protein kinase C iota gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:732937 D RGD:9068941 20200609 RGD PMID:12888898|REF_RGD_ID:2292460 11775551 PRKCI protein kinase C iota gene DOID:630 genetic disease ISO RGD:732937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775551 PRKCI protein kinase C iota gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620961 D RGD:9068941 20200609 RGD protein:increased expression:ventricle myocardium, membrane fraction PMID:14691046|REF_RGD_ID:2314944 11775551 PRKCI protein kinase C iota gene DOID:9352 type 2 diabetes mellitus ISO RGD:1331958 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 11775551 PRKCI protein kinase C iota gene DOID:9970 obesity ISO RGD:1331958 D RGD:9068941 20220825 MouseDO OMIM:601665 11775573 FABP5 fatty acid binding protein 5 gene DOID:10283 prostate cancer ISO RGD:736313 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate (human) PMID:16489065|REF_RGD_ID:1578462 11775573 FABP5 fatty acid binding protein 5 gene DOID:630 genetic disease ISO RGD:736313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775573 FABP5 fatty acid binding protein 5 gene DOID:684 hepatocellular carcinoma ISO RGD:736313 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11775573 FABP5 fatty acid binding protein 5 gene DOID:8893 psoriasis ISO RGD:736313 D RGD:9068941 20200609 RGD mRNA:increased expression:skin (human) PMID:16283139|REF_RGD_ID:1578463 11775573 FABP5 fatty acid binding protein 5 gene DOID:9007102 Myocardial Ischemia ISO RGD:736313 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11775581 LOC100980365 olfactory receptor 2K2 gene DOID:630 genetic disease ISO RGD:1342486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775586 DIAPH2 diaphanous related formin 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11775586 DIAPH2 diaphanous related formin 2 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1346222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:25741868 11775586 DIAPH2 diaphanous related formin 2 gene DOID:0080858 primary ovarian insufficiency 2A ISO RGD:1346222 D RGD:7240710 20180130 OMIM 11775586 DIAPH2 diaphanous related formin 2 gene DOID:0080858 primary ovarian insufficiency 2A ISO RGD:1346222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 2A PMID:25741868|PMID:28492532 11775586 DIAPH2 diaphanous related formin 2 gene DOID:12849 autistic disorder ISO RGD:1346222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11775586 DIAPH2 diaphanous related formin 2 gene DOID:13938 amenorrhea ISO RGD:1346222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11775586 DIAPH2 diaphanous related formin 2 gene DOID:5426 primary ovarian insufficiency susceptibility ISO RGD:1346222 D RGD:9068941 20200609 RGD DNA:translocation:intron:t(X;12)(q21;p1.3) PMID:9070928|REF_RGD_ID:1601071 11775586 DIAPH2 diaphanous related formin 2 gene DOID:630 genetic disease ISO RGD:1346222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775617 B3GNT4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 gene DOID:0110585 autosomal dominant nonsyndromic deafness 64 ISO RGD:1320043 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 64 PMID:25741868 11775617 B3GNT4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 gene DOID:630 genetic disease ISO RGD:1320043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775617 B3GNT4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 gene DOID:9004538 Hearing Loss ISO RGD:1320043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30311386 11775657 SPAG7 sperm associated antigen 7 gene DOID:0050941 spastic ataxia 2 ISO RGD:1313520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 11775657 SPAG7 sperm associated antigen 7 gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:1313520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 11775657 SPAG7 sperm associated antigen 7 gene DOID:630 genetic disease ISO RGD:1313520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775685 C9H9orf152 chromosome 9 C9orf152 homolog gene DOID:630 genetic disease ISO RGD:1342470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775691 AUP1 AUP1 lipid droplet regulating VLDL assembly factor gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1602731 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11775691 AUP1 AUP1 lipid droplet regulating VLDL assembly factor gene DOID:543 dystonia ISO RGD:1602731 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11775691 AUP1 AUP1 lipid droplet regulating VLDL assembly factor gene DOID:630 genetic disease ISO RGD:1602731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775691 AUP1 AUP1 lipid droplet regulating VLDL assembly factor gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1602731 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11775691 AUP1 AUP1 lipid droplet regulating VLDL assembly factor gene DOID:9002859 Parkinson's Disease 13 ISO RGD:1602731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease 13, autosomal dominant, susceptibility to PMID:18401856|PMID:18790661 11775714 VPS37B VPS37B subunit of ESCRT-I gene DOID:630 genetic disease ISO RGD:1605953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775743 TMEM200C transmembrane protein 200C gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:3302319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11775743 TMEM200C transmembrane protein 200C gene DOID:1059 intellectual disability ISO RGD:3302319 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11775749 ZNF646 zinc finger protein 646 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1351485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11775749 ZNF646 zinc finger protein 646 gene DOID:630 genetic disease ISO RGD:1351485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:737151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:14985375|PMID:15385606|PMID:15955112|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18347287|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:19549232|PMID:20301342|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26920677|PMID:27491411|PMID:28202706|PMID:28492532|PMID:29068549|PMID:29911575|PMID:32581362 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:737151 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Neuropathy, congenital sensory PMID:14985375|PMID:15385606|PMID:15955112|PMID:16865694|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19763161|PMID:20301342|PMID:20478850|PMID:20522430|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:229911575|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28202706|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31780880|PMID:32581362|PMID:32613771|PMID:33216760 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:737151 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Neuropathy, congenital sensory PMID:14985375|PMID:15385606|PMID:15955112|PMID:16865694|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19763161|PMID:20301342|PMID:20478850|PMID:20522430|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:28073787|PMID:28202706|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31780880|PMID:32581362|PMID:32613771|PMID:33216760 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:14985375|PMID:15133511|PMID:15385606|PMID:15955112|PMID:16385454|PMID:16865694|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19763161|PMID:20301342|PMID:20358599|PMID:20478850|PMID:20522430|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28202706|PMID:28235406|PMID:28379373|PMID:28440294|PMID:28492532|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31394368|PMID:31780880|PMID:32581362|PMID:33216760 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28202706|PMID:28379373|PMID:28492532|PMID:29068549|PMID:30795902 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0060170 generalized epilepsy with febrile seizures plus ISO RGD:737151 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus PMID:20478850|PMID:21698661|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:737151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: NEUROPATHY, PROGRESSIVE SENSORY, OF CHILDREN | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:10514109|PMID:10852559|PMID:10852560|PMID:14985375|PMID:15385606|PMID:15955112|PMID:16199547|PMID:16865694|PMID:17145499|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18599537|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19557861|PMID:19763161|PMID:20301342|PMID:20478850|PMID:20522430|PMID:20628234|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21115638|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22286749|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:229911575|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23149731|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25348405|PMID:25401298|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28116328|PMID:28202706|PMID:28235406|PMID:28381558|PMID:28440294|PMID:28492532|PMID:28842445|PMID:28914264|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29924869|PMID:29933521|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30672368|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31372899|PMID:31394368|PMID:31780880|PMID:32581362|PMID:32613771|PMID:33216760|PMID:34090020|PMID:374104|PMID:9536098 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:737151 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:10514109|PMID:10852559|PMID:10852560|PMID:14985375|PMID:15385606|PMID:15955112|PMID:16199547|PMID:16865694|PMID:17145499|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18599537|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19557861|PMID:19763161|PMID:20301342|PMID:20478850|PMID:20522430|PMID:20628234|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21115638|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25401298|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28202706|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29924869|PMID:29933521|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30478917|PMID:30554136|PMID:30569495|PMID:30642272|PMID:30672368|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31372899|PMID:31394368|PMID:31780880|PMID:32581362|PMID:32613771|PMID:33216760|PMID:34090020|PMID:9536098 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:737151 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:10514109|PMID:10852559|PMID:10852560|PMID:14985375|PMID:15302875|PMID:15385606|PMID:15955112|PMID:16199547|PMID:16865694|PMID:17145499|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18599537|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19557861|PMID:19763161|PMID:20301342|PMID:20478850|PMID:20522430|PMID:20628234|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21115638|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25401298|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28202706|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29924869|PMID:29933521|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30478917|PMID:30554136|PMID:30569495|PMID:30642272|PMID:30672368|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31372899|PMID:31394368|PMID:31780880|PMID:32581362|PMID:32613771|PMID:33216760|PMID:34090020|PMID:9536098 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:737151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:10514109|PMID:10852559|PMID:10852560|PMID:14985375|PMID:15302875|PMID:15385606|PMID:15955112|PMID:16199547|PMID:16702558|PMID:16865694|PMID:17145499|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18599537|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19557861|PMID:19633428|PMID:19763161|PMID:20038812|PMID:20301342|PMID:20385509|PMID:20478850|PMID:20522430|PMID:20628234|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21115638|PMID:21258341|PMID:21416599|PMID:21441906|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22286749|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23149731|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23850641|PMID:23874707|PMID:23893323|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25209274|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25621899|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28116328|PMID:28202706|PMID:28235406|PMID:28379373|PMID:28381558|PMID:28440294|PMID:28492532|PMID:28658526|PMID:28914264|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29379075|PMID:29500686|PMID:29911575|PMID:29924869|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30554136|PMID:30569495|PMID:30642272|PMID:30672368|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31372899|PMID:31394368|PMID:31780880|PMID:32005694|PMID:32062735|PMID:32581362|PMID:32707200|PMID:32719824|PMID:33216760|PMID:33487118|PMID:33688580|PMID:33884296|PMID:34090020|PMID:374104|PMID:9536098 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:10514109|PMID:10852559|PMID:10852560|PMID:14985375|PMID:15133511|PMID:15302875|PMID:15385606|PMID:15955112|PMID:16199547|PMID:16385454|PMID:16702558|PMID:16865694|PMID:17145499|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18599537|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19557861|PMID:19633428|PMID:19763161|PMID:20038812|PMID:20301342|PMID:20358599|PMID:20385509|PMID:20478850|PMID:20522430|PMID:20628234|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21115638|PMID:21258341|PMID:21416599|PMID:21441906|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22286749|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23149731|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23850641|PMID:23874707|PMID:23893323|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25209274|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25621899|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28116328|PMID:28202706|PMID:28235406|PMID:28379373|PMID:28381558|PMID:28440294|PMID:28492532|PMID:28658526|PMID:28914264|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29379075|PMID:29500686|PMID:29911575|PMID:29924869|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30554136|PMID:30569495|PMID:30642272|PMID:30672368|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31372899|PMID:31394368|PMID:31780880|PMID:32005694|PMID:32062735|PMID:32581362|PMID:32707200|PMID:32719824|PMID:33216760|PMID:33487118|PMID:33688580|PMID:33884296|PMID:34090020|PMID:374104|PMID:9536098 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0070309 absence epilepsy ISO RGD:737151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Absence seizures PMID:25741868 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0080422 Dravet syndrome ISO RGD:737151 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dravet syndrome | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:19763161|PMID:21698661|PMID:22136189|PMID:23280954|PMID:23895530|PMID:25250524|PMID:25741868|PMID:25993546|PMID:26264438|PMID:26467025|PMID:26675522|PMID:26920677|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29264398|PMID:29911575|PMID:30316835 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0090031 D-bifunctional protein deficiency ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: DBP deficiency PMID:16385454|PMID:17167479|PMID:17470132|PMID:19304393|PMID:25309764|PMID:25741868|PMID:28492532|PMID:30795902 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0111112 nephronophthisis 1 ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0111295 generalized epilepsy with febrile seizures plus 7 ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 7 PMID:10514109|PMID:10852559|PMID:10852560|PMID:14985375|PMID:15133511|PMID:15385606|PMID:15955112|PMID:16199547|PMID:16385454|PMID:16865694|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19763161|PMID:20301342|PMID:20358599|PMID:20478850|PMID:20522430|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28202706|PMID:28235406|PMID:28379373|PMID:28440294|PMID:28492532|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31372899|PMID:31394368|PMID:31780880|PMID:32581362|PMID:33216760 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0111297 familial febrile seizures ISO RGD:737151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Febrile seizures, familial PMID:21698661|PMID:25741868|PMID:26467025|PMID:28492532 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0111307 familial febrile seizures 1 ISO RGD:737151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Febrile seizures, familial, 1 PMID:25741868|PMID:28492532|PMID:31394368 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0111537 paroxysmal extreme pain disorder ISO RGD:737151 D RGD:7240710 20190315 OMIM 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0111537 paroxysmal extreme pain disorder ISO RGD:737151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paroxysmal extreme pain disorder | ClinVar Annotator: match by term: RECTAL PAIN, FAMILIAL PMID:15955112|PMID:17145499|PMID:18414213|PMID:18518989|PMID:18599537|PMID:19369487|PMID:19633428|PMID:19763161|PMID:20038812|PMID:20301342|PMID:20478850|PMID:21094958|PMID:21115638|PMID:21698661|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23129781|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:25250524|PMID:25316021|PMID:25333069|PMID:25741868|PMID:25852444|PMID:25993546|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29961513|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30834459|PMID:31193310|PMID:31394368|PMID:31780880|PMID:33216760 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28202706|PMID:28379373|PMID:28492532|PMID:29068549|PMID:30795902 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:21698661|PMID:28492532 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:10907 microcephaly ISO RGD:737151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:12712 nephronophthisis ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial neonatal seizures PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:1826 epilepsy ISO RGD:737151 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:19763161|PMID:22604722|PMID:23129781|PMID:25250524|PMID:25741868|PMID:26467025|PMID:27504264|PMID:28492532|PMID:29176367|PMID:30642272|PMID:33216760 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:308 early myoclonic encephalopathy ISO RGD:737151 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:19763161|PMID:21698661|PMID:22136189|PMID:23280954|PMID:23895530|PMID:25250524|PMID:25741868|PMID:25993546|PMID:26264438|PMID:26467025|PMID:26675522|PMID:26920677|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29264398|PMID:29911575|PMID:30316835 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:327 syringomyelia ISO RGD:737151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MORVAN DISEASE PMID:14985375|PMID:15385606|PMID:15955112|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18347287|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:19549232|PMID:20301342|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26920677|PMID:27491411|PMID:28202706|PMID:28492532|PMID:29068549|PMID:29911575|PMID:32581362 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:327 syringomyelia ISO RGD:737151 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: MORVAN DISEASE | ClinVar Annotator: match by term: Morvan disease PMID:14985375|PMID:15385606|PMID:15955112|PMID:16865694|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19763161|PMID:20301342|PMID:20478850|PMID:20522430|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:229911575|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28202706|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31780880|PMID:32581362|PMID:32613771|PMID:33216760 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:737151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:18414213|PMID:20478850|PMID:23895530|PMID:24776970|PMID:24848745|PMID:25250524|PMID:25741868|PMID:28492532|PMID:29358611 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:630 genetic disease ISO RGD:737151 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:10514109|PMID:10852559|PMID:10852560|PMID:16199547|PMID:17470132|PMID:17576681|PMID:18414213|PMID:19304393|PMID:19763161|PMID:20478850|PMID:21094958|PMID:21441906|PMID:21698661|PMID:22035805|PMID:22136189|PMID:22539570|PMID:22604722|PMID:22826602|PMID:23129781|PMID:23280954|PMID:23292638|PMID:23895530|PMID:24088041|PMID:24776970|PMID:24820863|PMID:24848745|PMID:25250524|PMID:25316021|PMID:25401298|PMID:25741868|PMID:25852444|PMID:25993546|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27504264|PMID:27525141|PMID:27608006|PMID:28073787|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29911575|PMID:29933521|PMID:29961513|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30554136|PMID:30642272|PMID:31193310|PMID:31372899|PMID:31780880|PMID:33216760|PMID:33487118|PMID:9536098 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:630 genetic disease ISO RGD:737151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10514109|PMID:10852559|PMID:10852560|PMID:16199547|PMID:17470132|PMID:17576681|PMID:18414213|PMID:19304393|PMID:19763161|PMID:20478850|PMID:21094958|PMID:21441906|PMID:21698661|PMID:22035805|PMID:22136189|PMID:22539570|PMID:22604722|PMID:22826602|PMID:23129781|PMID:23280954|PMID:23292638|PMID:23895530|PMID:24088041|PMID:24776970|PMID:24820863|PMID:24848745|PMID:25250524|PMID:25253744|PMID:25316021|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27956748|PMID:28073787|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29911575|PMID:29961513|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30554136|PMID:30642272|PMID:31193310|PMID:31372899|PMID:31394368|PMID:31780880|PMID:33216760|PMID:33487118|PMID:9536098 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:9002272 Small Fiber Neuropathy ISO RGD:737151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Small fiber neuropathy PMID:18414213|PMID:19763161|PMID:21698661|PMID:22035805|PMID:22539570|PMID:22826602|PMID:23280954|PMID:23850641|PMID:23895530|PMID:24088041|PMID:24817410|PMID:24820863|PMID:25250524|PMID:25316021|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26633545|PMID:27301361|PMID:27525141|PMID:27608006|PMID:27843123|PMID:28073787|PMID:28235406|PMID:28492532|PMID:29176367|PMID:29358611|PMID:29961513|PMID:30478917|PMID:30569495|PMID:31193310 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:9002512 Postherpetic Neuralgia ISO RGD:737151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23382806 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:9002834 Herpesviridae Infections ISO RGD:737151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23382806 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:9005968 Neuralgia ISO RGD:737151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19557861 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:9006202 Pruritus ISO RGD:737151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24820863 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:9008001 Familial Febrile Seizures 3B ISO RGD:737151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Febrile seizures, familial, 3b PMID:19763161|PMID:25741868|PMID:28492532|PMID:33216760 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:9008086 Developmental Disabilities ISO RGD:737151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:19763161|PMID:22604722|PMID:23129781|PMID:25250524|PMID:25741868|PMID:26467025|PMID:27504264|PMID:28492532|PMID:29176367|PMID:30642272|PMID:33216760 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:9008301 Pseudo-Zellweger Syndrome ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pseudo Zellweger syndrome PMID:16385454|PMID:17167479|PMID:17470132|PMID:19304393|PMID:25309764|PMID:25741868|PMID:28492532|PMID:30795902 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:9008324 Congenital Indifference to Pain, Autosomal Recessive ISO RGD:737151 D RGD:7240710 20180130 OMIM 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:9008324 Congenital Indifference to Pain, Autosomal Recessive ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CONGENITAL ANALGESIA, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal recessive PMID:15955112|PMID:16385454|PMID:17167479|PMID:17470132|PMID:18414213|PMID:18518989|PMID:19304393|PMID:19369487|PMID:19763161|PMID:20301342|PMID:20478850|PMID:20635406|PMID:21094958|PMID:21698661|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23129781|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25741868|PMID:25852444|PMID:25993546|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31394368|PMID:31780880|PMID:32601768|PMID:33216760|PMID:33240936 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:9008482 Congenital Pain Insensitivity ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital Indifference to Pain | ClinVar Annotator: match by term: INSENSITIVITY TO PAIN, CHANNELOPATHY-ASSOCIATED | ClinVar Annotator: match by term: Insensitivity to pain, channelopathy-associated | ClinVar Annotator: match by term: Pain insensitivity PMID:15955112|PMID:16385454|PMID:17167479|PMID:17470132|PMID:17576681|PMID:18414213|PMID:18518989|PMID:19304393|PMID:19369487|PMID:19763161|PMID:20301342|PMID:20478850|PMID:20635406|PMID:21094958|PMID:21698661|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23129781|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25741868|PMID:25852444|PMID:25993546|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28235406|PMID:28440294|PMID:28492532|PMID:28914264|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31394368|PMID:31780880|PMID:32601768|PMID:33216760|PMID:33240936|PMID:374104|PMID:9536098 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:9008520 Chronic Pain ISO RGD:737151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21634377 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:9240 erythromelalgia ISO RGD:737151 D RGD:7240710 20180130 OMIM 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:9240 erythromelalgia ISO RGD:737151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Erythermalgia, primary | ClinVar Annotator: match by term: Inherited Erythromelalgia | ClinVar Annotator: match by term: Primary erythromelalgia PMID:10514109|PMID:10852559|PMID:10852560|PMID:14985375|PMID:15302875|PMID:1536168|PMID:15385606|PMID:15955112|PMID:15958509|PMID:16216943|PMID:16392115|PMID:16702558|PMID:16988069|PMID:17101882|PMID:17135418|PMID:17294067|PMID:17985268|PMID:18171466|PMID:18347287|PMID:18414213|PMID:18518989|PMID:19369487|PMID:19549232|PMID:19557861|PMID:19763161|PMID:20301342|PMID:20385509|PMID:20478850|PMID:20635406|PMID:21094958|PMID:21115638|PMID:21698661|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23129781|PMID:23149731|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23874707|PMID:23893323|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:25250524|PMID:25316021|PMID:25333069|PMID:25741868|PMID:25852444|PMID:25993546|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28235406|PMID:28440294|PMID:28492532|PMID:28658526|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29379075|PMID:29500686|PMID:29911575|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30702961|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31372899|PMID:31394368|PMID:31780880|PMID:32581362|PMID:33216760|PMID:33487118|PMID:33688580|PMID:33884296 11775773 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:9993 hypoglycemia ISO RGD:737151 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypoglycemia PMID:19763161|PMID:22604722|PMID:23129781|PMID:25250524|PMID:25741868|PMID:26467025|PMID:27504264|PMID:28492532|PMID:29176367|PMID:30642272|PMID:33216760 11775804 MRPL34 mitochondrial ribosomal protein L34 gene DOID:630 genetic disease ISO RGD:1345591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775810 LOC100989812 olfactory receptor 2L13 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1348735 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11775810 LOC100989812 olfactory receptor 2L13 gene DOID:1540 parathyroid carcinoma ISO RGD:1348735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11775810 LOC100989812 olfactory receptor 2L13 gene DOID:630 genetic disease ISO RGD:1348735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775810 LOC100989812 olfactory receptor 2L13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11775810 LOC100989812 olfactory receptor 2L13 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11775829 GRHL1 grainyhead like transcription factor 1 gene DOID:630 genetic disease ISO RGD:1313942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775849 UIMC1 ubiquitin interaction motif containing 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1601999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11775849 UIMC1 ubiquitin interaction motif containing 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1601999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11775849 UIMC1 ubiquitin interaction motif containing 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1601999 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 11775849 UIMC1 ubiquitin interaction motif containing 1 gene DOID:630 genetic disease ISO RGD:1601999 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775849 UIMC1 ubiquitin interaction motif containing 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1601999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11775849 UIMC1 ubiquitin interaction motif containing 1 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1601999 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 11775891 ARHGAP45 Rho GTPase activating protein 45 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1606818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 11775891 ARHGAP45 Rho GTPase activating protein 45 gene DOID:10591 pre-eclampsia ISO RGD:1606818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26095815 11775891 ARHGAP45 Rho GTPase activating protein 45 gene DOID:14566 disease of cellular proliferation ISO RGD:1606818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19096014 11775891 ARHGAP45 Rho GTPase activating protein 45 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1606818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 11775891 ARHGAP45 Rho GTPase activating protein 45 gene DOID:5339 cyclic hematopoiesis ISO RGD:1606818 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11775891 ARHGAP45 Rho GTPase activating protein 45 gene DOID:630 genetic disease ISO RGD:1606818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775912 NKX3-2 NK3 homeobox 2 gene DOID:630 genetic disease ISO RGD:1353604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11775912 NKX3-2 NK3 homeobox 2 gene DOID:65 connective tissue disease ISO RGD:1353604 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 11775912 NKX3-2 NK3 homeobox 2 gene DOID:9008170 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia ISO RGD:1353604 D RGD:7240710 20180130 OMIM 11775912 NKX3-2 NK3 homeobox 2 gene DOID:9008170 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia ISO RGD:1353604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylo-megaepiphyseal-metaphyseal dysplasia PMID:20004766|PMID:25741868|PMID:28492532|PMID:29704686 11775918 MGAT1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:0080600 COVID-19 ISO RGD:1349279 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11775918 MGAT1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:630 genetic disease ISO RGD:1349279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775949 LRRC1 leucine rich repeat containing 1 gene DOID:630 genetic disease ISO RGD:1318108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775949 LRRC1 leucine rich repeat containing 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1318108 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11775967 C18H18orf54 chromosome 18 C18orf54 homolog gene DOID:1059 intellectual disability ISO RGD:1348374 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11775988 TADA3 transcriptional adaptor 3 gene DOID:2843 long QT syndrome ISO RGD:1314884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11775988 TADA3 transcriptional adaptor 3 gene DOID:630 genetic disease ISO RGD:1314884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11775988 TADA3 transcriptional adaptor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11775988 TADA3 transcriptional adaptor 3 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1314884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 11776001 SDK1 sidekick cell adhesion molecule 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1352696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11776001 SDK1 sidekick cell adhesion molecule 1 gene DOID:10283 prostate cancer ISO RGD:1352696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11776001 SDK1 sidekick cell adhesion molecule 1 gene DOID:11372 megacolon ISO RGD:1352696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11776001 SDK1 sidekick cell adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:1352696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11776046 MMP1 matrix metallopeptidase 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1317388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 11776046 MMP1 matrix metallopeptidase 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1317388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 11776046 MMP1 matrix metallopeptidase 1 gene DOID:0050851 glomerulosclerosis ISO RGD:1307917 D RGD:9068941 20200609 RGD associated with Hyperhomocysteinemia PMID:20406136|REF_RGD_ID:7207203 11776046 MMP1 matrix metallopeptidase 1 gene DOID:0050851 glomerulosclerosis ISO RGD:1307917 D RGD:9068941 20200609 RGD protein:decreased expression:kidney (rat) PMID:21275176|REF_RGD_ID:7207363 11776046 MMP1 matrix metallopeptidase 1 gene DOID:0050855 renal fibrosis ISO RGD:1317388 D RGD:9068941 20200609 RGD human gene in mouse model; associated with Diabetes Mellitus, Experimental PMID:14674437|REF_RGD_ID:7207134 11776046 MMP1 matrix metallopeptidase 1 gene DOID:0060224 atrial fibrillation ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:20935575|REF_RGD_ID:8693675 11776046 MMP1 matrix metallopeptidase 1 gene DOID:0060224 atrial fibrillation ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:increased expression:papillary muscle of left ventricle PMID:19734590|REF_RGD_ID:8549736 11776046 MMP1 matrix metallopeptidase 1 gene DOID:0060249 scoliosis ISO RGD:1307917 D RGD:9068941 20200609 RGD protein:increased expression:intervertebral disc (rat) PMID:21554726|REF_RGD_ID:7207288 11776046 MMP1 matrix metallopeptidase 1 gene DOID:0060642 recessive dystrophic epidermolysis bullosa ISO RGD:1317388 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa PMID:25741868|PMID:28492532 11776046 MMP1 matrix metallopeptidase 1 gene DOID:0060903 thrombosis ISO RGD:1317388 D RGD:9068941 20200609 RGD associated with Arteriovenous Fistula;DNA:insertion:promoter:g.-1607insG (rs11292517) (human) PMID:20616161|REF_RGD_ID:7207048 11776046 MMP1 matrix metallopeptidase 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1317388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 11776046 MMP1 matrix metallopeptidase 1 gene DOID:0080600 COVID-19 ISO RGD:1317388 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 11776046 MMP1 matrix metallopeptidase 1 gene DOID:0080933 immunoglobulin light chain amyloidosis ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:increased expression:renal glomeruli (human) PMID:16164636|REF_RGD_ID:7207084 11776046 MMP1 matrix metallopeptidase 1 gene DOID:0111144 preterm premature rupture of the membranes ISO RGD:1317388 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Preterm premature rupture of the membranes 11776046 MMP1 matrix metallopeptidase 1 gene DOID:1059 intellectual disability ISO RGD:1317388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11776046 MMP1 matrix metallopeptidase 1 gene DOID:1070 primary open angle glaucoma ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs1799750 (human) PMID:23441116|REF_RGD_ID:8549724 11776046 MMP1 matrix metallopeptidase 1 gene DOID:1070 primary open angle glaucoma no_association ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG rs1799750 (human) PMID:20808730|REF_RGD_ID:8549725 11776046 MMP1 matrix metallopeptidase 1 gene DOID:10763 hypertension ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:15363819|REF_RGD_ID:1582532 11776046 MMP1 matrix metallopeptidase 1 gene DOID:10763 hypertension ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:decreased expression:renal glomerulus (human) PMID:19506087|REF_RGD_ID:2312464 11776046 MMP1 matrix metallopeptidase 1 gene DOID:10964 cholesteatoma of middle ear ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:12768791|REF_RGD_ID:7794712 11776046 MMP1 matrix metallopeptidase 1 gene DOID:11054 urinary bladder cancer ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:17986285|REF_RGD_ID:7207077 11776046 MMP1 matrix metallopeptidase 1 gene DOID:11054 urinary bladder cancer severity ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:increased expression:urine (human) PMID:11705862|REF_RGD_ID:7207140 11776046 MMP1 matrix metallopeptidase 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:12952838|REF_RGD_ID:1582538 11776046 MMP1 matrix metallopeptidase 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1317388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11776046 MMP1 matrix metallopeptidase 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:12167381|REF_RGD_ID:1582541 11776046 MMP1 matrix metallopeptidase 1 gene DOID:12930 dilated cardiomyopathy severity ISO RGD:1317388 D RGD:9068941 20200609 RGD mRNA:increased expression:myocardium (human) PMID:17178334|REF_RGD_ID:4890382 11776046 MMP1 matrix metallopeptidase 1 gene DOID:13001 carotid stenosis ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion, haplotype:promoter:g.-1607insG (human) PMID:12364729|REF_RGD_ID:1580553 11776046 MMP1 matrix metallopeptidase 1 gene DOID:1324 lung cancer ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion, haplotype:promoter:g.-1607insG (human) PMID:19963114|REF_RGD_ID:4890379 11776046 MMP1 matrix metallopeptidase 1 gene DOID:1324 lung cancer ISO RGD:1317388 D RGD:9068941 20200609 RGD associated with Respiratory Tract Diseases PMID:15718477|REF_RGD_ID:5131088 11776046 MMP1 matrix metallopeptidase 1 gene DOID:1324 lung cancer susceptibility ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:11691799|REF_RGD_ID:7207021 11776046 MMP1 matrix metallopeptidase 1 gene DOID:13641 exfoliation syndrome no_association ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG rs1799750 (human) PMID:20808730|REF_RGD_ID:8549725 11776046 MMP1 matrix metallopeptidase 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:15561045|REF_RGD_ID:1582530 11776046 MMP1 matrix metallopeptidase 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:decreased expression:aorta (human) PMID:16820601|REF_RGD_ID:1582351 11776046 MMP1 matrix metallopeptidase 1 gene DOID:1612 breast cancer ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:18366705|REF_RGD_ID:2298552 11776046 MMP1 matrix metallopeptidase 1 gene DOID:1612 breast cancer disease_progression ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:increased expression:breast, stromal cell (human) PMID:21835023|REF_RGD_ID:7207143 11776046 MMP1 matrix metallopeptidase 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:12473595|REF_RGD_ID:7207138 11776046 MMP1 matrix metallopeptidase 1 gene DOID:1712 aortic valve stenosis ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:15780799|REF_RGD_ID:1582522 11776046 MMP1 matrix metallopeptidase 1 gene DOID:1936 atherosclerosis ISO RGD:1317388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21742783 11776046 MMP1 matrix metallopeptidase 1 gene DOID:1936 atherosclerosis susceptibility ISO RGD:1317388 D RGD:9068941 20200609 RGD human gene in mouse model PMID:11375412|REF_RGD_ID:7207025 11776046 MMP1 matrix metallopeptidase 1 gene DOID:2320 obstructive lung disease severity ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:11875051|REF_RGD_ID:4890377 11776046 MMP1 matrix metallopeptidase 1 gene DOID:2349 arteriosclerosis ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:15621056|REF_RGD_ID:1582525 11776046 MMP1 matrix metallopeptidase 1 gene DOID:2394 ovarian cancer ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:10485461|REF_RGD_ID:7207020 11776046 MMP1 matrix metallopeptidase 1 gene DOID:2841 asthma ISO RGD:1317388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24469321 11776046 MMP1 matrix metallopeptidase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1317388 D RGD:7240710 20180130 OMIM 11776046 MMP1 matrix metallopeptidase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1317388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, rate of decline of lung function in PMID:11741975|PMID:11875051|PMID:18030675|PMID:9850057 11776046 MMP1 matrix metallopeptidase 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19796283|REF_RGD_ID:7207054 11776046 MMP1 matrix metallopeptidase 1 gene DOID:3393 coronary artery disease ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion, haplotype:promoter:g.-1607insG rs799750 (human) PMID:17893005|REF_RGD_ID:7207049 11776046 MMP1 matrix metallopeptidase 1 gene DOID:3393 coronary artery disease severity ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:15619398|REF_RGD_ID:1582527 11776046 MMP1 matrix metallopeptidase 1 gene DOID:3407 carotid artery disease severity ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:15073384|REF_RGD_ID:1582361 11776046 MMP1 matrix metallopeptidase 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1307917 D RGD:9068941 20200609 RGD PMID:22571259|REF_RGD_ID:7207277 11776046 MMP1 matrix metallopeptidase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1317388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20471133 11776046 MMP1 matrix metallopeptidase 1 gene DOID:418 systemic scleroderma ISO RGD:1317388 D RGD:9068941 20200609 RGD mRNA:decreased expression:skin PMID:22286923|REF_RGD_ID:8548651 11776046 MMP1 matrix metallopeptidase 1 gene DOID:418 systemic scleroderma severity ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12051403|REF_RGD_ID:8693663 11776046 MMP1 matrix metallopeptidase 1 gene DOID:4362 cervical cancer disease_progression ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:14550952|REF_RGD_ID:7207024 11776046 MMP1 matrix metallopeptidase 1 gene DOID:4450 renal cell carcinoma no_association ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:17980059|REF_RGD_ID:7207082 11776046 MMP1 matrix metallopeptidase 1 gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:12845675|REF_RGD_ID:7207023 11776046 MMP1 matrix metallopeptidase 1 gene DOID:4914 esophagus adenocarcinoma susceptibility ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG rs1799750 (human) PMID:19321798|REF_RGD_ID:7207058 11776046 MMP1 matrix metallopeptidase 1 gene DOID:4959 epidermolysis bullosa dystrophica ISO RGD:1317388 D RGD:7240710 20180130 OMIM 11776046 MMP1 matrix metallopeptidase 1 gene DOID:4959 epidermolysis bullosa dystrophica severity ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607_-1606insG (human) PMID:18030675|REF_RGD_ID:8549728 11776046 MMP1 matrix metallopeptidase 1 gene DOID:5082 liver cirrhosis ISO RGD:1307917 D RGD:9068941 20200609 RGD PMID:16124044|REF_RGD_ID:7207132 11776046 MMP1 matrix metallopeptidase 1 gene DOID:5082 liver cirrhosis severity ISO RGD:1307917 D RGD:9068941 20200609 RGD protein:decreased expression:serum (rat) PMID:14606082|REF_RGD_ID:7207396 11776046 MMP1 matrix metallopeptidase 1 gene DOID:5517 stomach carcinoma ISO RGD:1317388 D RGD:9068941 20200609 RGD mRNA:increased expression:gastric mucosa (human) PMID:20944126|REF_RGD_ID:7206857 11776046 MMP1 matrix metallopeptidase 1 gene DOID:5773 oral submucous fibrosis ISO RGD:1317388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 11776046 MMP1 matrix metallopeptidase 1 gene DOID:5844 myocardial infarction ISO RGD:1307917 D RGD:9068941 20200609 RGD PMID:11179039|REF_RGD_ID:7207136 11776046 MMP1 matrix metallopeptidase 1 gene DOID:5844 myocardial infarction ISO RGD:1307917 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:heart left ventricle (rat) PMID:8531210|REF_RGD_ID:7207198 11776046 MMP1 matrix metallopeptidase 1 gene DOID:5844 myocardial infarction ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:15009768|REF_RGD_ID:1582535 11776046 MMP1 matrix metallopeptidase 1 gene DOID:5844 myocardial infarction ISO RGD:1317388 D RGD:9068941 20200609 RGD human gene in rat model PMID:19797822|REF_RGD_ID:7207135 11776046 MMP1 matrix metallopeptidase 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1317388 D RGD:9068941 20200609 RGD associated with Coronary Artery Disease; DNA:snps, haplotype:promoter:g.-519A>G, g.-340T>C (human) PMID:16210545|REF_RGD_ID:1582520 11776046 MMP1 matrix metallopeptidase 1 gene DOID:6000 congestive heart failure ISO RGD:1307917 D RGD:9068941 20200609 RGD PMID:21866669|REF_RGD_ID:7207282 11776046 MMP1 matrix metallopeptidase 1 gene DOID:6000 congestive heart failure ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:12892382|REF_RGD_ID:1582539 11776046 MMP1 matrix metallopeptidase 1 gene DOID:630 genetic disease ISO RGD:1317388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11776046 MMP1 matrix metallopeptidase 1 gene DOID:6432 pulmonary hypertension ISO RGD:1307917 D RGD:9068941 20200609 RGD PMID:23087098|REF_RGD_ID:7207217 11776046 MMP1 matrix metallopeptidase 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:9972954|REF_RGD_ID:7207129 11776046 MMP1 matrix metallopeptidase 1 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:16293969|REF_RGD_ID:1582519 11776046 MMP1 matrix metallopeptidase 1 gene DOID:783 end stage renal disease no_association ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:22401717|REF_RGD_ID:7206856 11776046 MMP1 matrix metallopeptidase 1 gene DOID:783 end stage renal disease severity ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion, haplotype:promoter:g.-1607insG (human) PMID:19221176|REF_RGD_ID:7207064 11776046 MMP1 matrix metallopeptidase 1 gene DOID:799 varicose veins ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:12175972|REF_RGD_ID:1582540 11776046 MMP1 matrix metallopeptidase 1 gene DOID:824 periodontitis ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:gingiva, gingival crevicular fluid (human) PMID:11876270|REF_RGD_ID:7207044 11776046 MMP1 matrix metallopeptidase 1 gene DOID:8398 osteoarthritis ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:9972954|REF_RGD_ID:7207129 11776046 MMP1 matrix metallopeptidase 1 gene DOID:8472 localized scleroderma ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:9804345|REF_RGD_ID:1582543 11776046 MMP1 matrix metallopeptidase 1 gene DOID:8577 ulcerative colitis ISO RGD:1307917 D RGD:9068941 20200609 RGD PMID:18837084|REF_RGD_ID:7207395 11776046 MMP1 matrix metallopeptidase 1 gene DOID:8805 intermediate coronary syndrome ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:14675588|REF_RGD_ID:1582536 11776046 MMP1 matrix metallopeptidase 1 gene DOID:8923 skin melanoma ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotypes:promoter:multiple PMID:20655738|REF_RGD_ID:8549726 11776046 MMP1 matrix metallopeptidase 1 gene DOID:8923 skin melanoma disease_progression ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:multiple PMID:22198560|REF_RGD_ID:8549727 11776046 MMP1 matrix metallopeptidase 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:10644865|REF_RGD_ID:7207194 11776046 MMP1 matrix metallopeptidase 1 gene DOID:90 degenerative disc disease ISO RGD:1307917 D RGD:9068941 20200609 RGD PMID:19916288|REF_RGD_ID:7207382 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9000438 Subarachnoid Hemorrhage no_association ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:11546917|REF_RGD_ID:1582365 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:14499230|REF_RGD_ID:1582537 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1317388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12538496|PMID:19487542|PMID:22580338|PMID:23548910 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9001004 Chronic Periodontitis ISO RGD:1317388 D RGD:9068941 20200609 RGD mRNA:increased expression:gingiva (human) PMID:22401717|REF_RGD_ID:7206856 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9001004 Chronic Periodontitis no_association ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:15312099|REF_RGD_ID:7207046 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9001004 Chronic Periodontitis severity ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:12622858|REF_RGD_ID:7207045 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9001472 Nasal Polyps ISO RGD:1317388 D RGD:9068941 20200609 RGD associated with Rhinosinusitis;mRNA:increased expression:nasal cavity mucosa PMID:23064462|REF_RGD_ID:8549735 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317388 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12557150 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9001665 Aneurysm ISO RGD:1317388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21742783 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9002221 Hyperplasia ISO RGD:1307917 D RGD:9068941 20200609 RGD Intimal Hyperplasia PMID:22860019|REF_RGD_ID:7207219 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:19843588|REF_RGD_ID:7207056 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9002331 Knee Osteoarthritis treatment ISO RGD:1307917 D RGD:9068941 20200609 RGD PMID:21167838|REF_RGD_ID:8549737 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9002457 Experimental Arthritis ISO RGD:1307917 D RGD:9068941 20200609 RGD PMID:21108488|PMID:21288455|PMID:24011916|REF_RGD_ID:7207362|REF_RGD_ID:7207365|REF_RGD_ID:8549748 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9002804 Amaurosis Fugax ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:15073384|REF_RGD_ID:1582361 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9002884 Emphysema ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:intron:snp:IVS1+18C>T rs470358 (human) PMID:19293200|REF_RGD_ID:4890371 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9003817 Sudden Hearing Loss ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion, SNP, haplotypes:promoter:-1607_-1606insG (rs1799750), -519A>G (human) PMID:21154774|REF_RGD_ID:8549733 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9004484 Sepsis ISO RGD:1307917 D RGD:9068941 20200609 RGD PMID:23478082|REF_RGD_ID:8549749 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1317388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22580338 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1317388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23548910 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9005172 Lung Neoplasms no_association ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:19843588|REF_RGD_ID:7207056 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:19622769|REF_RGD_ID:8549722 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9005384 Adult Cerebral Astrocytoma susceptibility ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:17502998|REF_RGD_ID:7207034 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1307917 D RGD:9068941 20200609 RGD protein:increased expression:periodontal ligament, alveolar bone of mandible (rat) PMID:20082587|REF_RGD_ID:7207377 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9005647 Experimental Autoimmune Uveitis onset ISO RGD:1307917 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:eye (rat) PMID:19755419|REF_RGD_ID:7207388 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9005700 Airway Obstruction ISO RGD:1317388 D RGD:9068941 20200609 RGD associated with Asthma; DNA:insertion:promoter:g.-1607insG (human) PMID:19191136|REF_RGD_ID:4890372 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9006045 Dissecting Aneurysm ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:15561045|REF_RGD_ID:1582530 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:19843588|REF_RGD_ID:7207056 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9007096 Stroke ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:11720009|REF_RGD_ID:1582542 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1307917 D RGD:9068941 20200609 RGD PMID:17996137|REF_RGD_ID:7207397 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:12892382|REF_RGD_ID:1582539 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9007877 Fetal Hypoxia ISO RGD:1307917 D RGD:9068941 20200609 RGD protein:altered expression:heart (rat) PMID:21856922|REF_RGD_ID:7207283 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9008 psoriatic arthritis ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:9972954|REF_RGD_ID:7207129 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1317388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23548910 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9008443 Colorectal Neoplasms severity ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:11489811|REF_RGD_ID:7207022 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9008856 HIV-Associated Lipodystrophy Syndrome ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:SNP PMID:20852404|REF_RGD_ID:8549721 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1317388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23548910 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:9972954|REF_RGD_ID:7207129 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9206 Barrett's esophagus ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (rs1799750) (human) PMID:19321798|REF_RGD_ID:7207058 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9282 ocular hypertension ISO RGD:1317388 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20089869 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9282 ocular hypertension treatment ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:20089869|REF_RGD_ID:8549723 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1307917 D RGD:9068941 20200609 RGD protein:increased expression:nucleus pulposus PMID:19951028|REF_RGD_ID:7207379 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:decreased expression:renal glomerulus (human) PMID:19506087|REF_RGD_ID:2312464 11776046 MMP1 matrix metallopeptidase 1 gene DOID:9675 pulmonary emphysema ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG rs1799750 (human) PMID:17363767|REF_RGD_ID:4890375 11776046 MMP1 matrix metallopeptidase 1 gene DOID:971 tendinitis ISO RGD:1307917 D RGD:9068941 20200609 RGD PMID:22926534|REF_RGD_ID:8549751 11776060 RNASE1 ribonuclease A family member 1, pancreatic gene DOID:0080600 COVID-19 ISO RGD:1320822 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11776060 RNASE1 ribonuclease A family member 1, pancreatic gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1320822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 11776060 RNASE1 ribonuclease A family member 1, pancreatic gene DOID:630 genetic disease ISO RGD:1320822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11776060 RNASE1 ribonuclease A family member 1, pancreatic gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1320822 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11776107 MKNK1 MAPK interacting serine/threonine kinase 1 gene DOID:303 substance-related disorder ISO RGD:1605115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11776107 MKNK1 MAPK interacting serine/threonine kinase 1 gene DOID:630 genetic disease ISO RGD:1605115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11776153 LOC100982404 5-hydroxytryptamine receptor 3C gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1353896 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11776153 LOC100982404 5-hydroxytryptamine receptor 3C gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1353896 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11776153 LOC100982404 5-hydroxytryptamine receptor 3C gene DOID:0111546 Currarino syndrome ISO RGD:1353896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11776153 LOC100982404 5-hydroxytryptamine receptor 3C gene DOID:12849 autistic disorder ISO RGD:1353896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19035560 11776153 LOC100982404 5-hydroxytryptamine receptor 3C gene DOID:630 genetic disease ISO RGD:1353896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11776166 TLR5 toll like receptor 5 gene DOID:10457 Legionnaires' disease ISO RGD:1348706 D RGD:7240710 20230517 OMIM 11776166 TLR5 toll like receptor 5 gene DOID:10457 Legionnaires' disease ISO RGD:1348706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Legionnaire disease, susceptibility to PMID:14623910|PMID:16027372|PMID:23447684 11776166 TLR5 toll like receptor 5 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1331979 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (mouse) PMID:12763043|REF_RGD_ID:5129557 11776166 TLR5 toll like receptor 5 gene DOID:1485 cystic fibrosis ISO RGD:1348706 D RGD:9068941 20200609 RGD protein:increased expression:lung, sputum, neutrophil (human) PMID:18684966|REF_RGD_ID:5129506 11776166 TLR5 toll like receptor 5 gene DOID:1485 cystic fibrosis resistance ISO RGD:1348706 D RGD:9068941 20200609 RGD DNA:snp:cds:c.1174C>T rs5744168 (human) PMID:21068401|REF_RGD_ID:5129499 11776166 TLR5 toll like receptor 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1348706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11776166 TLR5 toll like receptor 5 gene DOID:1679 cystitis severity ISO RGD:1348706 D RGD:9068941 20200609 RGD DNA:nonsense mutation:cds:p.R392X (human) PMID:19543401|REF_RGD_ID:7246906 11776166 TLR5 toll like receptor 5 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1331979 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (mouse) PMID:18256364|REF_RGD_ID:7246909 11776166 TLR5 toll like receptor 5 gene DOID:3265 chronic granulomatous disease ISO RGD:1348706 D RGD:9068941 20200609 RGD protein:decreased expression:blood, neutrophil (human) PMID:18155283|REF_RGD_ID:5130865 11776166 TLR5 toll like receptor 5 gene DOID:5052 melioidosis ISO RGD:1348706 D RGD:7240710 20230517 OMIM 11776166 TLR5 toll like receptor 5 gene DOID:5052 melioidosis ISO RGD:1348706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melioidosis, resistance to PMID:14623910|PMID:16027372|PMID:23447684 11776166 TLR5 toll like receptor 5 gene DOID:630 genetic disease ISO RGD:1348706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11776166 TLR5 toll like receptor 5 gene DOID:7147 ankylosing spondylitis ISO RGD:1348706 D RGD:9068941 20200609 RGD mRNA:increased expression:blood cell: PMID:20952467|REF_RGD_ID:7794744 11776166 TLR5 toll like receptor 5 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:631351 D RGD:9068941 20200609 RGD mRNA:decreased expression:ileum (rat) PMID:19608731|REF_RGD_ID:5128779 11776166 TLR5 toll like receptor 5 gene DOID:874 bacterial pneumonia ISO RGD:1331979 D RGD:9068941 20200609 RGD PMID:19801452|REF_RGD_ID:5129503 11776166 TLR5 toll like receptor 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16284379 11776166 TLR5 toll like receptor 5 gene DOID:9003321 Bacterial Keratitis ISO RGD:1331979 D RGD:9068941 20200609 RGD associated with Serratia Infections; PMID:23033384|REF_RGD_ID:8662876 11776166 TLR5 toll like receptor 5 gene DOID:9005099 Salmonella Infections, Animal ISO RGD:631351 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:jejunum, colon (rat) PMID:20529359|REF_RGD_ID:5129497 11776166 TLR5 toll like receptor 5 gene DOID:9005873 Tongue Neoplasms ISO RGD:1348706 D RGD:9068941 20200609 RGD protein:increased expression:tongue: PMID:23287987|REF_RGD_ID:7814374 11776166 TLR5 toll like receptor 5 gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:1348706 D RGD:9068941 20200609 RGD DNA:snp:cds:p.F616L rs5744174 (human) PMID:19258923|REF_RGD_ID:4142862 11776166 TLR5 toll like receptor 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30508503 11776166 TLR5 toll like receptor 5 gene DOID:9007417 Pseudomonas Infections ISO RGD:1331979 D RGD:9068941 20200609 RGD PMID:20566829|REF_RGD_ID:5129679 11776166 TLR5 toll like receptor 5 gene DOID:9008972 Hyperammonemia ISO RGD:1348706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30508503 11776166 TLR5 toll like receptor 5 gene DOID:9074 systemic lupus erythematosus ISO RGD:1348706 D RGD:7240710 20230517 OMIM 11776166 TLR5 toll like receptor 5 gene DOID:9074 systemic lupus erythematosus ISO RGD:1348706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus, resistance to, 1 PMID:14623910|PMID:16027372|PMID:23447684 11776166 TLR5 toll like receptor 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11776182 PCF11 PCF11 cleavage and polyadenylation factor subunit gene DOID:1059 intellectual disability ISO RGD:1604812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11776182 PCF11 PCF11 cleavage and polyadenylation factor subunit gene DOID:630 genetic disease ISO RGD:1604812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11776182 PCF11 PCF11 cleavage and polyadenylation factor subunit gene DOID:8761 acute megakaryocytic leukemia ISO RGD:1604812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia 11776211 BRAP BRCA1 associated protein gene DOID:5844 myocardial infarction ISO RGD:1348068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19198608 11776211 BRAP BRCA1 associated protein gene DOID:630 genetic disease ISO RGD:1348068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11776234 CAPZA2 capping actin protein of muscle Z-line subunit alpha 2 gene DOID:0080600 COVID-19 ISO RGD:1350794 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11776234 CAPZA2 capping actin protein of muscle Z-line subunit alpha 2 gene DOID:1059 intellectual disability ISO RGD:1350794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:32338762 11776234 CAPZA2 capping actin protein of muscle Z-line subunit alpha 2 gene DOID:4450 renal cell carcinoma ISO RGD:1350794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:28492532 11776234 CAPZA2 capping actin protein of muscle Z-line subunit alpha 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11776234 CAPZA2 capping actin protein of muscle Z-line subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1350794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11776234 CAPZA2 capping actin protein of muscle Z-line subunit alpha 2 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1350794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:28492532 11776248 MAP4K3 mitogen-activated protein kinase kinase kinase kinase 3 gene DOID:1682 congenital heart disease ISO RGD:732595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of 11776248 MAP4K3 mitogen-activated protein kinase kinase kinase kinase 3 gene DOID:3070 high grade glioma ISO RGD:732595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11776248 MAP4K3 mitogen-activated protein kinase kinase kinase kinase 3 gene DOID:3883 Lynch syndrome ISO RGD:732595 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11776248 MAP4K3 mitogen-activated protein kinase kinase kinase kinase 3 gene DOID:630 genetic disease ISO RGD:732595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11776248 MAP4K3 mitogen-activated protein kinase kinase kinase kinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11776248 MAP4K3 mitogen-activated protein kinase kinase kinase kinase 3 gene DOID:9006281 Temporomandibular Joint Disorders ISO RGD:621280 D RGD:9068941 20200609 RGD protein:decreased expression:cartilage tissue PMID:23386193|REF_RGD_ID:10041017 11776290 DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:0060369 Parkinson's disease 6 ISO RGD:1319052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:25741868|PMID:28492532 11776290 DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1319052 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11776290 DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1319052 D RGD:7240710 20180130 OMIM 11776290 DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1319052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:16199547|PMID:17576681|PMID:22305527|PMID:25741868|PMID:28492532|PMID:34462534|PMID:9536098 11776290 DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:1059 intellectual disability ISO RGD:1319052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11776290 DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:14330 Parkinson's disease ISO RGD:1319052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Recessive PMID:25741868|PMID:28492532 11776290 DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:5212 congenital disorder of glycosylation ISO RGD:1319052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 11776290 DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:630 genetic disease ISO RGD:1319052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11776290 DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1319052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11776319 WRN WRN RecQ like helicase gene DOID:0050902 medulloblastoma ISO RGD:1318280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:16673358|PMID:16786514|PMID:20301687|PMID:24033266|PMID:25182132|PMID:25390333|PMID:25741868|PMID:27667302|PMID:28492532|PMID:8968742|PMID:9225981 11776319 WRN WRN RecQ like helicase gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1318280 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:20443122|PMID:25741868|PMID:28492532 11776319 WRN WRN RecQ like helicase gene DOID:11162 respiratory failure ISO RGD:1318280 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Progressive pulmonary failure PMID:11863428|PMID:36214313 11776319 WRN WRN RecQ like helicase gene DOID:1580 diffuse scleroderma ISO RGD:1318280 D RGD:9068941 20200609 RGD PMID:16906373|REF_RGD_ID:10042980 11776319 WRN WRN RecQ like helicase gene DOID:1612 breast cancer ISO RGD:1318280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10069711|PMID:10220139|PMID:16786514|PMID:24728327|PMID:25741868|PMID:28492532 11776319 WRN WRN RecQ like helicase gene DOID:2394 ovarian cancer ISO RGD:1318280 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:15609317|PMID:24728327|PMID:25637295|PMID:25741868|PMID:28492532 11776319 WRN WRN RecQ like helicase gene DOID:3393 coronary artery disease ISO RGD:1318280 D RGD:9068941 20200609 RGD PMID:11186893|REF_RGD_ID:1580824 11776319 WRN WRN RecQ like helicase gene DOID:397 restrictive cardiomyopathy ISO RGD:1318280 D RGD:9068941 20200609 RGD PMID:15916825|REF_RGD_ID:1580820 11776319 WRN WRN RecQ like helicase gene DOID:5688 Werner syndrome ISO RGD:1318280 D RGD:7240710 20180130 OMIM 11776319 WRN WRN RecQ like helicase gene DOID:5688 Werner syndrome ISO RGD:1318280 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Werner syndrome PMID:10069711|PMID:10189141|PMID:10220139|PMID:10347997|PMID:10543396|PMID:10628995|PMID:10811130|PMID:12244128|PMID:12827497|PMID:15355988|PMID:15489508|PMID:15609317|PMID:15888165|PMID:16199547|PMID:16673358|PMID:16786514|PMID:17478382|PMID:17576681|PMID:18205852|PMID:18414213|PMID:18810497|PMID:19763152|PMID:19824023|PMID:20157511|PMID:20301687|PMID:20307669|PMID:20443122|PMID:20657174|PMID:20802463|PMID:20855428|PMID:21389352|PMID:22188495|PMID:22406018|PMID:23045531|PMID:23583337|PMID:23849162|PMID:23936869|PMID:24033266|PMID:24429382|PMID:24728327|PMID:25018888|PMID:25059010|PMID:25182132|PMID:25390333|PMID:25619955|PMID:25637295|PMID:25741868|PMID:26296701|PMID:26344056|PMID:26546047|PMID:26689913|PMID:26695548|PMID:26901136|PMID:27084275|PMID:27153395|PMID:27559010|PMID:27667302|PMID:28202063|PMID:28276523|PMID:28492532|PMID:28795391|PMID:28861129|PMID:29753700|PMID:30140198|PMID:30891318|PMID:32041611|PMID:32359129|PMID:36292687|PMID:8037212|PMID:8602509|PMID:8968742|PMID:9012406|PMID:9048918|PMID:9225981|PMID:9241267|PMID:9450180|PMID:9536098 11776319 WRN WRN RecQ like helicase gene DOID:5844 myocardial infarction ISO RGD:1318280 D RGD:9068941 20200609 RGD PMID:9021029|REF_RGD_ID:1580821 11776319 WRN WRN RecQ like helicase gene DOID:630 genetic disease ISO RGD:1318280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24728327|PMID:25741868|PMID:28492532 11776319 WRN WRN RecQ like helicase gene DOID:9002644 Premature Aging ISO RGD:1318280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21267443 11776319 WRN WRN RecQ like helicase gene DOID:9008840 DNA Repair-Deficiency Disorders ISO RGD:1318280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29616805 11776319 WRN WRN RecQ like helicase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1318280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:20443122|PMID:25741868|PMID:28492532 11776319 WRN WRN RecQ like helicase gene DOID:9669 senile cataract no_association ISO RGD:1318280 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C1367R (rs1346044) (human) PMID:20808731|REF_RGD_ID:10042985 11776319 WRN WRN RecQ like helicase gene DOID:9669 senile cataract susceptibility ISO RGD:1318280 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C1367R (rs1346044) (human) PMID:23334603|REF_RGD_ID:10042984 11776357 TIRAP TIR domain containing adaptor protein gene DOID:0110877 holoprosencephaly 11 ISO RGD:1322402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11776357 TIRAP TIR domain containing adaptor protein gene DOID:0111723 Jacobsen Syndrome ISO RGD:1322402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11776357 TIRAP TIR domain containing adaptor protein gene DOID:12365 malaria ISO RGD:1322402 D RGD:7240710 20230505 OMIM 11776357 TIRAP TIR domain containing adaptor protein gene DOID:12365 malaria ISO RGD:1322402 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malaria, resistance to PMID:16991088|PMID:17322885|PMID:18305471|PMID:25741868 11776357 TIRAP TIR domain containing adaptor protein gene DOID:2945 severe acute respiratory syndrome ISO RGD:1322402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26861016 11776357 TIRAP TIR domain containing adaptor protein gene DOID:399 tuberculosis ISO RGD:1322402 D RGD:7240710 20230505 OMIM 11776357 TIRAP TIR domain containing adaptor protein gene DOID:399 tuberculosis ISO RGD:1322402 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to PMID:16991088|PMID:17322885|PMID:18305471|PMID:25741868 11776357 TIRAP TIR domain containing adaptor protein gene DOID:5419 schizophrenia ISO RGD:1322402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11776357 TIRAP TIR domain containing adaptor protein gene DOID:630 genetic disease ISO RGD:1322402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11776357 TIRAP TIR domain containing adaptor protein gene DOID:9000989 Pneumococcal Infections ISO RGD:1322402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17322885 11776357 TIRAP TIR domain containing adaptor protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16284379 11776357 TIRAP TIR domain containing adaptor protein gene DOID:9003909 Immunodeficiency 67 ISO RGD:1322402 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Invasive pneumococcal disease, protection against PMID:16991088|PMID:17322885|PMID:18305471|PMID:25741868 11776357 TIRAP TIR domain containing adaptor protein gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11776357 TIRAP TIR domain containing adaptor protein gene DOID:9005036 Bacteremia ISO RGD:1322402 D RGD:7240710 20180130 OMIM 11776357 TIRAP TIR domain containing adaptor protein gene DOID:9005036 Bacteremia ISO RGD:1322402 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bacteremia, susceptibility to, 1 PMID:16991088|PMID:17322885|PMID:18305471|PMID:25741868 11776357 TIRAP TIR domain containing adaptor protein gene DOID:9007661 Dwarfism ISO RGD:1322402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11776374 RXFP1 relaxin family peptide receptor 1 gene DOID:11372 megacolon ISO RGD:1351067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11776374 RXFP1 relaxin family peptide receptor 1 gene DOID:289 endometriosis ISO RGD:1351067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 11776374 RXFP1 relaxin family peptide receptor 1 gene DOID:630 genetic disease ISO RGD:1351067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11776399 CAST calpastatin gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:737362 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11776399 CAST calpastatin gene DOID:0110663 congenital myasthenic syndrome 1A ISO RGD:737362 D RGD:9068941 20200609 RGD PMID:17853947|REF_RGD_ID:5509810 11776399 CAST calpastatin gene DOID:10652 Alzheimer's disease ISO RGD:10292 D RGD:9068941 20200609 RGD PMID:20595388|REF_RGD_ID:5509799 11776399 CAST calpastatin gene DOID:10652 Alzheimer's disease ISO RGD:737362 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:19020018|REF_RGD_ID:5509809 11776399 CAST calpastatin gene DOID:12894 Sjogren's syndrome ISO RGD:737362 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic PMID:15540513|REF_RGD_ID:5683622 11776399 CAST calpastatin gene DOID:14067 Plasmodium falciparum malaria ISO RGD:737362 D RGD:9068941 20200609 RGD protein:alter localization:erythrocyte PMID:17359359|REF_RGD_ID:5509812 11776399 CAST calpastatin gene DOID:14069 cerebral malaria ISO RGD:10292 D RGD:9068941 20200609 RGD protein:increased express:brain PMID:16236382|REF_RGD_ID:5509817 11776399 CAST calpastatin gene DOID:14330 Parkinson's disease ISO RGD:737362 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs1559085) (human) PMID:20127884|REF_RGD_ID:5509800 11776399 CAST calpastatin gene DOID:14330 Parkinson's disease ISO RGD:737362 D RGD:9068941 20200609 RGD protein:decreased expression:substantia nigra, dopaminergic neuron PMID:10722997|REF_RGD_ID:5683320 11776399 CAST calpastatin gene DOID:2316 brain ischemia ISO RGD:2278 D RGD:9068941 20200609 RGD PMID:16467455|REF_RGD_ID:5509813 11776399 CAST calpastatin gene DOID:630 genetic disease ISO RGD:737362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11776399 CAST calpastatin gene DOID:7148 rheumatoid arthritis ISO RGD:737362 D RGD:9068941 20200609 RGD PMID:7706496|REF_RGD_ID:5683620 11776399 CAST calpastatin gene DOID:820 myocarditis ISO RGD:737362 D RGD:9068941 20220609 CTD CTD Direct Evidence: therapeutic PMID:34365571 11776399 CAST calpastatin gene DOID:865 vasculitis ISO RGD:737362 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic PMID:12367559|REF_RGD_ID:5683623 11776399 CAST calpastatin gene DOID:8893 psoriasis ISO RGD:737362 D RGD:9068941 20200609 RGD PMID:15654835|REF_RGD_ID:5509819 11776399 CAST calpastatin gene DOID:9000220 Coxsackievirus Infections ISO RGD:737362 D RGD:9068941 20220609 CTD CTD Direct Evidence: therapeutic PMID:34365571 11776399 CAST calpastatin gene DOID:9000998 Brain Injuries severity ISO RGD:2278 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:15307896|REF_RGD_ID:5509821 11776399 CAST calpastatin gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:737362 D RGD:9068941 20220609 CTD CTD Direct Evidence: therapeutic PMID:34365571 11776399 CAST calpastatin gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2278 D RGD:9068941 20200609 RGD PMID:10318818|REF_RGD_ID:5683321 11776399 CAST calpastatin gene DOID:9004009 Reperfusion Injury ISO RGD:2278 D RGD:9068941 20200609 RGD PMID:11035539|REF_RGD_ID:5509823 11776399 CAST calpastatin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11776399 CAST calpastatin gene DOID:9004484 Sepsis ISO RGD:2278 D RGD:9068941 20200609 RGD PMID:15563579|REF_RGD_ID:5683871 11776399 CAST calpastatin gene DOID:9004590 Acute Liver Failure ISO RGD:737362 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16871587 11776399 CAST calpastatin gene DOID:9005287 PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS ISO RGD:737362 D RGD:7240710 20180130 OMIM 11776399 CAST calpastatin gene DOID:9005287 PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS ISO RGD:737362 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads PMID:25683118|PMID:25741868|PMID:28492532|PMID:3527073 11776399 CAST calpastatin gene DOID:9005749 Necrosis ISO RGD:737362 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17323976 11776399 CAST calpastatin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737362 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11776399 CAST calpastatin gene DOID:9007096 Stroke ISO RGD:2278 D RGD:9068941 20200609 RGD PMID:20116408|REF_RGD_ID:5509801 11776399 CAST calpastatin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2278 D RGD:9068941 20200609 RGD PMID:16871587|REF_RGD_ID:5683869 11776399 CAST calpastatin gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2278 D RGD:9068941 20200609 RGD PMID:12482022|REF_RGD_ID:5683872 11776399 CAST calpastatin gene DOID:9074 systemic lupus erythematosus ISO RGD:737362 D RGD:9068941 20200609 RGD PMID:12367559|REF_RGD_ID:5683623 11776399 CAST calpastatin gene DOID:9182 pemphigus ISO RGD:737362 D RGD:9068941 20200609 RGD PMID:16314468|REF_RGD_ID:5509814 11776399 CAST calpastatin gene DOID:9281 phenylketonuria ISO RGD:10292 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brain PMID:15863237|REF_RGD_ID:5509818 11776399 CAST calpastatin gene DOID:9952 acute lymphoblastic leukemia ISO RGD:737362 D RGD:9068941 20200609 RGD protein:increased expresssion:B cell PMID:11264179|REF_RGD_ID:5509822 11776472 STRN3 striatin 3 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:737101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:21681106 11776472 STRN3 striatin 3 gene DOID:630 genetic disease ISO RGD:737101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11776472 STRN3 striatin 3 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:737101 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11776494 ZNF267 zinc finger protein 267 gene DOID:2377 multiple sclerosis ISO RGD:1343571 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 11776494 ZNF267 zinc finger protein 267 gene DOID:37 skin disease ISO RGD:1343571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11776494 ZNF267 zinc finger protein 267 gene DOID:630 genetic disease ISO RGD:1343571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11776494 ZNF267 zinc finger protein 267 gene DOID:9007964 Arsenic Poisoning ISO RGD:1343571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11776506 COPS8 COP9 signalosome subunit 8 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1322849 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11776506 COPS8 COP9 signalosome subunit 8 gene DOID:1059 intellectual disability ISO RGD:1322849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11776506 COPS8 COP9 signalosome subunit 8 gene DOID:630 genetic disease ISO RGD:1322849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11776506 COPS8 COP9 signalosome subunit 8 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1322849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11776518 LIPT1 lipoyltransferase 1 gene DOID:630 genetic disease ISO RGD:1321082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25326635|PMID:25741868|PMID:31042466|PMID:35388219 11776518 LIPT1 lipoyltransferase 1 gene DOID:9001276 Failure to Thrive ISO RGD:1321082 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:27247813|PMID:28492532|PMID:33531667 11776518 LIPT1 lipoyltransferase 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1321082 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:25741868|PMID:27247813|PMID:28492532|PMID:33531667 11776518 LIPT1 lipoyltransferase 1 gene DOID:9004538 Hearing Loss ISO RGD:1321082 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:27247813|PMID:28492532|PMID:33531667 11776518 LIPT1 lipoyltransferase 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1321082 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:25741868|PMID:27247813|PMID:28492532|PMID:33531667 11776518 LIPT1 lipoyltransferase 1 gene DOID:9008121 Lipoyltransferase 1 Deficiency ISO RGD:1321082 D RGD:7240710 20200527 OMIM 11776518 LIPT1 lipoyltransferase 1 gene DOID:9008121 Lipoyltransferase 1 Deficiency ISO RGD:1321082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency PMID:17570395|PMID:24256811|PMID:24341803|PMID:25326635|PMID:25741868|PMID:25787132|PMID:27247813|PMID:28492532|PMID:31042466|PMID:33531667|PMID:34440436|PMID:35388219 11776524 JARID2 jumonji and AT-rich interaction domain containing 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1354253 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21308764 11776524 JARID2 jumonji and AT-rich interaction domain containing 2 gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:1354253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability PMID:25741868 11776524 JARID2 jumonji and AT-rich interaction domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1354253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild PMID:25741868 11776524 JARID2 jumonji and AT-rich interaction domain containing 2 gene DOID:10907 microcephaly ISO RGD:1354253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11776524 JARID2 jumonji and AT-rich interaction domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1354253 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autism 11776524 JARID2 jumonji and AT-rich interaction domain containing 2 gene DOID:1712 aortic valve stenosis ISO RGD:1354253 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:ventricle endocardium (human) PMID:18805276|REF_RGD_ID:9586018 11776524 JARID2 jumonji and AT-rich interaction domain containing 2 gene DOID:2377 multiple sclerosis ISO RGD:1354253 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 11776524 JARID2 jumonji and AT-rich interaction domain containing 2 gene DOID:630 genetic disease ISO RGD:1354253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11776524 JARID2 jumonji and AT-rich interaction domain containing 2 gene DOID:9004098 DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES ISO RGD:1354253 D RGD:7240710 20230222 OMIM 11776524 JARID2 jumonji and AT-rich interaction domain containing 2 gene DOID:9004098 DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES ISO RGD:1354253 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual disability and dysmorphic facies PMID:25741868|PMID:33077894|PMID:35887345 11776524 JARID2 jumonji and AT-rich interaction domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354253 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33077894|PMID:35887345 11776547 UNC5B unc-5 netrin receptor B gene DOID:0060041 autism spectrum disorder ISO RGD:736493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11776547 UNC5B unc-5 netrin receptor B gene DOID:630 genetic disease ISO RGD:736493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11776547 UNC5B unc-5 netrin receptor B gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:736493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29162556 11776575 FLRT1 fibronectin leucine rich transmembrane protein 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1345456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11776575 FLRT1 fibronectin leucine rich transmembrane protein 1 gene DOID:1059 intellectual disability ISO RGD:1345456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11776575 FLRT1 fibronectin leucine rich transmembrane protein 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1345456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28832565 11776575 FLRT1 fibronectin leucine rich transmembrane protein 1 gene DOID:3070 high grade glioma ISO RGD:1345456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11776575 FLRT1 fibronectin leucine rich transmembrane protein 1 gene DOID:574 peripheral nervous system disease ISO RGD:1345456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 11776575 FLRT1 fibronectin leucine rich transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:1345456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11776575 FLRT1 fibronectin leucine rich transmembrane protein 1 gene DOID:870 neuropathy ISO RGD:1345456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 11776585 KLHL38 kelch like family member 38 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:2300033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11776585 KLHL38 kelch like family member 38 gene DOID:630 genetic disease ISO RGD:2300033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11776593 MBIP MAP3K12 binding inhibitory protein 1 gene DOID:12859 choreatic disease ISO RGD:1314857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign hereditary chorea PMID:11971878 11776593 MBIP MAP3K12 binding inhibitory protein 1 gene DOID:630 genetic disease ISO RGD:1314857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11776593 MBIP MAP3K12 binding inhibitory protein 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1314857 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11776611 TDO2 tryptophan 2,3-dioxygenase gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:68531 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35687267 11776611 TDO2 tryptophan 2,3-dioxygenase gene DOID:0111703 familial hypertryptophanemia ISO RGD:68531 D RGD:7240710 20200311 OMIM 11776611 TDO2 tryptophan 2,3-dioxygenase gene DOID:0111703 familial hypertryptophanemia ISO RGD:68531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypertryptophanemia PMID:28285122 11776611 TDO2 tryptophan 2,3-dioxygenase gene DOID:10652 Alzheimer's disease treatment ISO RGD:68532 D RGD:9068941 20200609 RGD PMID:27190010|REF_RGD_ID:13601984 11776611 TDO2 tryptophan 2,3-dioxygenase gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:68531 D RGD:9068941 20200609 RGD PMID:8873217|REF_RGD_ID:1358595 11776611 TDO2 tryptophan 2,3-dioxygenase gene DOID:12849 autistic disorder ISO RGD:68531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14755447 11776611 TDO2 tryptophan 2,3-dioxygenase gene DOID:630 genetic disease ISO RGD:68531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11776611 TDO2 tryptophan 2,3-dioxygenase gene DOID:9005587 Starvation ISO RGD:68531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7306070 11776611 TDO2 tryptophan 2,3-dioxygenase gene DOID:9005930 Endotoxemia severity ISO RGD:68532 D RGD:9068941 20201022 RGD PMID:24930766|REF_RGD_ID:39939032 11776627 GFI1 growth factor independent 1 transcriptional repressor gene DOID:0050590 severe congenital neutropenia ISO RGD:10634 D RGD:9068941 20220825 MouseDO OMIM:202700 | OMIM:300299 | OMIM:610738 | OMIM:612541 | OMIM:613107 | OMIM:615285 | OMIM:616022 11776627 GFI1 growth factor independent 1 transcriptional repressor gene DOID:0050748 marginal zone lymphoma disease_progression ISO RGD:10634 D RGD:9068941 20200609 RGD PMID:15231650|REF_RGD_ID:1581305 11776627 GFI1 growth factor independent 1 transcriptional repressor gene DOID:0050908 myelodysplastic syndrome ISO RGD:733642 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone marrow: PMID:18371060|REF_RGD_ID:11040459 11776627 GFI1 growth factor independent 1 transcriptional repressor gene DOID:0070004 myeloid neoplasm ISO RGD:10634 D RGD:9068941 20200609 RGD PMID:22932805|REF_RGD_ID:11040453 11776627 GFI1 growth factor independent 1 transcriptional repressor gene DOID:0112131 severe congenital neutropenia 2 ISO RGD:733642 D RGD:7240710 20180130 OMIM 11776627 GFI1 growth factor independent 1 transcriptional repressor gene DOID:0112131 severe congenital neutropenia 2 ISO RGD:733642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant PMID:11807637|PMID:12778173|PMID:17576681|PMID:20560965|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 11776627 GFI1 growth factor independent 1 transcriptional repressor gene DOID:1227 neutropenia ISO RGD:10634 D RGD:9068941 20200609 RGD PMID:11810106|REF_RGD_ID:11040449 11776627 GFI1 growth factor independent 1 transcriptional repressor gene DOID:1227 neutropenia ISO RGD:10634 D RGD:9068941 20200609 RGD DNA:mutation:exon: PMID:22684987|REF_RGD_ID:11040456 11776627 GFI1 growth factor independent 1 transcriptional repressor gene DOID:1240 leukemia ISO RGD:733642 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow mononuclear cell: PMID:20723283|REF_RGD_ID:11040452 11776627 GFI1 growth factor independent 1 transcriptional repressor gene DOID:630 genetic disease ISO RGD:733642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11776627 GFI1 growth factor independent 1 transcriptional repressor gene DOID:8692 myeloid leukemia ISO RGD:10634 D RGD:9068941 20200609 RGD PMID:21732494|REF_RGD_ID:11040451 11776627 GFI1 growth factor independent 1 transcriptional repressor gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:733642 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16122429 11776627 GFI1 growth factor independent 1 transcriptional repressor gene DOID:9002867 Myeloid Leukemia, Chronic-Phase ISO RGD:733642 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:mononuclea cell, CD34+ cell PMID:19887785|REF_RGD_ID:11040457 11776627 GFI1 growth factor independent 1 transcriptional repressor gene DOID:9002867 Myeloid Leukemia, Chronic-Phase disease_progression ISO RGD:733642 D RGD:9068941 20200609 RGD PMID:23411466|REF_RGD_ID:11040461 11776627 GFI1 growth factor independent 1 transcriptional repressor gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:733642 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 11776627 GFI1 growth factor independent 1 transcriptional repressor gene DOID:9006946 Nonimmune Chronic Idiopathic Neutropenia, Adult ISO RGD:733642 D RGD:7240710 20180130 OMIM 11776627 GFI1 growth factor independent 1 transcriptional repressor gene DOID:9006946 Nonimmune Chronic Idiopathic Neutropenia, Adult ISO RGD:733642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonimmune chronic idiopathic neutropenia of adults PMID:11807637|PMID:12778173|PMID:25741868|PMID:28492532 11776627 GFI1 growth factor independent 1 transcriptional repressor gene DOID:9119 acute myeloid leukemia ISO RGD:733642 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11776627 GFI1 growth factor independent 1 transcriptional repressor gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:733642 D RGD:9068941 20200609 RGD DNA:SNP:cds:c.107G>A(rs34631763)(human) PMID:20075157|REF_RGD_ID:11040450 11776643 COMMD5 COMM domain containing 5 gene DOID:630 genetic disease ISO RGD:1348607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11776658 CD1E CD1e molecule gene DOID:13938 amenorrhea ISO RGD:1352820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11776658 CD1E CD1e molecule gene DOID:1540 parathyroid carcinoma ISO RGD:1352820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11776658 CD1E CD1e molecule gene DOID:630 genetic disease ISO RGD:1352820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11776658 CD1E CD1e molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11776689 GPS1 G protein pathway suppressor 1 gene DOID:630 genetic disease ISO RGD:732073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11776712 AXIN1 axin 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:736564 D RGD:9068941 20211217 RGD mRNA:increased expression:oral epithelium (human) PMID:21393552|REF_RGD_ID:150530486 11776712 AXIN1 axin 1 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:736564 D RGD:9068941 20211210 RGD protein:decreased expression:oral epithelium (human) PMID:17143481|REF_RGD_ID:150530474 11776712 AXIN1 axin 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736564 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11776712 AXIN1 axin 1 gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:736564 D RGD:9068941 20211210 RGD DNA:SNPs:5'utr: (rs12921862, rs1805105, rs370681) (human) PMID:31143301|REF_RGD_ID:150527861 11776712 AXIN1 axin 1 gene DOID:1324 lung cancer disease_progression ISO RGD:736564 D RGD:9068941 20211210 RGD DNA:hypermethylation PMID:23192643|REF_RGD_ID:150527862 11776712 AXIN1 axin 1 gene DOID:1324 lung cancer disease_progression ISO RGD:736564 D RGD:9068941 20211210 RGD protein:decreased expression:lung (human) PMID:21496867|REF_RGD_ID:150530293 11776712 AXIN1 axin 1 gene DOID:1324 lung cancer treatment ISO RGD:736564 D RGD:9068941 20211210 RGD human cells in mouse model PMID:23915259|PMID:32051824|REF_RGD_ID:150530274|REF_RGD_ID:150530284 11776712 AXIN1 axin 1 gene DOID:1826 epilepsy ISO RGD:736564 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 11776712 AXIN1 axin 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736564 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11776712 AXIN1 axin 1 gene DOID:219 colon cancer treatment ISO RGD:620859 D RGD:9068941 20211210 RGD PMID:28032729|REF_RGD_ID:150530464 11776712 AXIN1 axin 1 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:736564 D RGD:9068941 20211210 RGD protein:decreased expression:esophagus (human) PMID:12771989|REF_RGD_ID:150530473 11776712 AXIN1 axin 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:736564 D RGD:9068941 20211210 RGD protein:decreased expression:lung (human) PMID:19735876|REF_RGD_ID:150530290 11776712 AXIN1 axin 1 gene DOID:5082 liver cirrhosis ISO RGD:736564 D RGD:9068941 20211217 RGD protein:decreased expression:liver (human) PMID:31514071|REF_RGD_ID:150530482 11776712 AXIN1 axin 1 gene DOID:630 genetic disease ISO RGD:736564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11776712 AXIN1 axin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736564 D RGD:7240710 20180130 OMIM 11776712 AXIN1 axin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736564 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:10700176|PMID:25741868|PMID:28492532 11776712 AXIN1 axin 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736564 D RGD:9068941 20211210 RGD associated with Hepatitis B, Chronic,DNA:SNP, haplotype:exon:(rs1805105) T>C (human) PMID:26968103|REF_RGD_ID:14402039 11776712 AXIN1 axin 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736564 D RGD:9068941 20211217 RGD protein:decreased expression:liver (human) PMID:31514071|REF_RGD_ID:150530482 11776712 AXIN1 axin 1 gene DOID:9002004 Caudal Duplication Anomaly ISO RGD:736564 D RGD:7240710 20180130 OMIM 11776712 AXIN1 axin 1 gene DOID:9002004 Caudal Duplication Anomaly ISO RGD:736564 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Caudal duplication anomaly PMID:25741868|PMID:28492532 11776729 SGCZ sarcoglycan zeta gene DOID:37 skin disease ISO RGD:1317183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28720099 11776729 SGCZ sarcoglycan zeta gene DOID:630 genetic disease ISO RGD:1317183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11776729 SGCZ sarcoglycan zeta gene DOID:670 amphetamine abuse ISO RGD:1317183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11776744 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:0060335 autosomal dominant sideroblastic anemia 4 ISO RGD:1323451 D RGD:7240710 20190315 OMIM 11776744 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:0060335 autosomal dominant sideroblastic anemia 4 ISO RGD:1323451 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anemia, sideroblastic, 4 PMID:20817635|PMID:25741868|PMID:26491070|PMID:28492532|PMID:3653362 11776744 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1323451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11776744 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1323451 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11776744 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:0080855 Parkinsonism ISO RGD:1311806 D RGD:9068941 20200609 RGD protein:decreased expression:striatum PMID:21542017|REF_RGD_ID:6784518 11776744 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1323451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 11776744 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:10652 Alzheimer's disease ISO RGD:1323451 D RGD:9068941 20200609 RGD PMID:17050040|REF_RGD_ID:10402560 11776744 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:10652 Alzheimer's disease ISO RGD:1323452 D RGD:9068941 20200609 RGD PMID:17050040|REF_RGD_ID:10402560 11776744 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:13141 uveitis ISO RGD:1323451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21850155 11776744 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:14330 Parkinson's disease ISO RGD:1323451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16565515 11776744 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:14330 Parkinson's disease ISO RGD:1323451 D RGD:9068941 20200609 RGD DNA:mutation:cds:A>T476(human) PMID:20817635|REF_RGD_ID:6784528 11776744 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:14330 Parkinson's disease ISO RGD:1323451 D RGD:9068941 20200609 RGD DNA:mutations:multiple: PMID:19657588|REF_RGD_ID:6784529 11776744 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:14330 Parkinson's disease ISO RGD:1323451 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:16565515|REF_RGD_ID:6784531 11776744 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:14330 Parkinson's disease disease_progression ISO RGD:1323451 D RGD:9068941 20200609 RGD PMID:18219256|REF_RGD_ID:6784530 11776744 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:2316 brain ischemia ISO RGD:1311806 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:7629893|REF_RGD_ID:6784525 11776744 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:417 autoimmune disease ISO RGD:1323451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21850155 11776744 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:4450 renal cell carcinoma ISO RGD:1323451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 11776744 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1323451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11776744 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:630 genetic disease ISO RGD:1323451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11776744 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1323451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11776744 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:7148 rheumatoid arthritis ISO RGD:1323451 D RGD:9068941 20200609 RGD protein:increased expression:synovial cell: PMID:23739258|REF_RGD_ID:10402561 11776744 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1323451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 11776744 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:8955 sideroblastic anemia ISO RGD:1323451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11776744 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11776744 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:9005930 Endotoxemia ISO RGD:1323451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16741687 11776744 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:9006624 EVEN-PLUS SYNDROME ISO RGD:1323451 D RGD:7240710 20190315 OMIM 11776744 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:9006624 EVEN-PLUS SYNDROME ISO RGD:1323451 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: EPIPHYSEAL AND VERTEBRAL DYSPLASIA, MICROTIA, AND FLAT NOSE, PLUS ASSOCIATED MALFORMATIONS | ClinVar Annotator: match by term: Even-plus syndrome PMID:25741868|PMID:26598328|PMID:28492532 11776744 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323451 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11776744 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:9007102 Myocardial Ischemia ISO RGD:1323451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11776766 ELL3 elongation factor for RNA polymerase II 3 gene DOID:2717 Bloom syndrome ISO RGD:1320517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11776766 ELL3 elongation factor for RNA polymerase II 3 gene DOID:630 genetic disease ISO RGD:1320517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11776766 ELL3 elongation factor for RNA polymerase II 3 gene DOID:9256 colorectal cancer ISO RGD:1320517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11776807 SEPTIN2 septin 2 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1342947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11776807 SEPTIN2 septin 2 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1342947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11776807 SEPTIN2 septin 2 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1342947 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11776807 SEPTIN2 septin 2 gene DOID:1059 intellectual disability ISO RGD:1342947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11776807 SEPTIN2 septin 2 gene DOID:14749 methylmalonic acidemia ISO RGD:1342947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 11776807 SEPTIN2 septin 2 gene DOID:630 genetic disease ISO RGD:1342947 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11776807 SEPTIN2 septin 2 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1342947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11776827 ETV5 ETS variant transcription factor 5 gene DOID:2661 myoepithelioma ISO RGD:1320007 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11776827 ETV5 ETS variant transcription factor 5 gene DOID:630 genetic disease ISO RGD:1320007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11776827 ETV5 ETS variant transcription factor 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27783944 11776827 ETV5 ETS variant transcription factor 5 gene DOID:9008192 Neoplastic Processes ISO RGD:1320007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27783944 11776849 CCDC14 coiled-coil domain containing 14 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1348740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 11776849 CCDC14 coiled-coil domain containing 14 gene DOID:630 genetic disease ISO RGD:1348740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11776849 CCDC14 coiled-coil domain containing 14 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1348740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 11776849 CCDC14 coiled-coil domain containing 14 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1348740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 11776849 CCDC14 coiled-coil domain containing 14 gene DOID:9270 alkaptonuria ISO RGD:1348740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11776880 USH2A usherin gene DOID:0050439 Usher syndrome ISO RGD:736503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:10090909|PMID:10729113|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26164827|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27157150|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29912909|PMID:29953849|PMID:30029497|PMID:30190494|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30718709|PMID:30872814|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31736247|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32188678|PMID:32531858|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:33089500|PMID:34130719|PMID:9536098|PMID:9624053 11776880 USH2A usherin gene DOID:0050439 Usher syndrome ISO RGD:736503 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10090909|PMID:10729113|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26164827|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27157150|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29912909|PMID:29953849|PMID:30029497|PMID:30190494|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30718709|PMID:30872814|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:33089500|PMID:33576794|PMID:34130719|PMID:34426522|PMID:9536098|PMID:9624053 11776880 USH2A usherin gene DOID:0050439 Usher syndrome ISO RGD:736503 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10090909|PMID:10729113|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26164827|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27157150|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29912909|PMID:29953849|PMID:30029497|PMID:30190494|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30718709|PMID:30872814|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:33089500|PMID:33576794|PMID:34130719|PMID:34416374|PMID:34426522|PMID:9536098|PMID:9624053 11776880 USH2A usherin gene DOID:0050439 Usher syndrome ISO RGD:736503 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10090909|PMID:10729113|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27157150|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29912909|PMID:29953849|PMID:30029497|PMID:30190494|PMID:30192042|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30543658|PMID:30718709|PMID:30872814|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31980526|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:32707200|PMID:33089500|PMID:33576794|PMID:34130719|PMID:34416374|PMID:34426522|PMID:34638692|PMID:35457016|PMID:9536098|PMID:9624053 11776880 USH2A usherin gene DOID:0050439 Usher syndrome ISO RGD:736503 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10090909|PMID:10729113|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27157150|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29912909|PMID:29953849|PMID:30029497|PMID:30190494|PMID:30192042|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30543658|PMID:30718709|PMID:30872814|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31816670|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31980526|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:32707200|PMID:33089500|PMID:33576794|PMID:33749171|PMID:34130719|PMID:34148116|PMID:34416374|PMID:34426522|PMID:34638692|PMID:34948090|PMID:35457016|PMID:9536098|PMID:9624053 11776880 USH2A usherin gene DOID:0050439 Usher syndrome ISO RGD:736503 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28798898|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29266521|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29940899|PMID:29953849|PMID:30029497|PMID:30081015|PMID:30190494|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30543658|PMID:30718709|PMID:30796641|PMID:30826590|PMID:30872814|PMID:30948794|PMID:31047384|PMID:31054281|PMID:31144483|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31816670|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32093671|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:32707200|PMID:32893482|PMID:33089500|PMID:33111345|PMID:33124170|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33781268|PMID:34130719|PMID:34148116|PMID:34203967|PMID:34416374|PMID:34426522|PMID:34638692|PMID:34781295|PMID:34948090|PMID:35266249|PMID:9536098|PMID:9624053 11776880 USH2A usherin gene DOID:0050439 Usher syndrome ISO RGD:736503 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28798898|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29266521|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29940899|PMID:29953849|PMID:30029497|PMID:30081015|PMID:30190494|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30543658|PMID:30718709|PMID:30796641|PMID:30826590|PMID:30872814|PMID:30948794|PMID:31047384|PMID:31054281|PMID:31144483|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31816670|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32093671|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:32707200|PMID:32893482|PMID:33089500|PMID:33111345|PMID:33124170|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33781268|PMID:34130719|PMID:34148116|PMID:34203967|PMID:34416374|PMID:34426522|PMID:34638692|PMID:34781295|PMID:34948090|PMID:35266249|PMID:36314366|PMID:9536098|PMID:9624053 11776880 USH2A usherin gene DOID:0050439 Usher syndrome susceptibility ISO RGD:736503 D RGD:9068941 20200609 RGD DNA:snps, insertion:exon, intron:multiple (human) PMID:18452394|REF_RGD_ID:8547956 11776880 USH2A usherin gene DOID:0050534 congenital stationary night blindness ISO RGD:736503 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:9624053 11776880 USH2A usherin gene DOID:0050563 nonsyndromic deafness ISO RGD:736503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:10729113|PMID:10909849|PMID:12525556|PMID:15823922|PMID:16199547|PMID:17085681|PMID:17405132|PMID:18641288|PMID:19683999|PMID:19737284|PMID:20497194|PMID:20507924|PMID:21487335|PMID:21569298|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22135276|PMID:24033266|PMID:24875298|PMID:24944099|PMID:25252889|PMID:2525289|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:27460420|PMID:27596865|PMID:28157192|PMID:28492532|PMID:28559085|PMID:28653555|PMID:28894305|PMID:29986705|PMID:30311386|PMID:31231422|PMID:32036094|PMID:32531858|PMID:32747562|PMID:34008892 11776880 USH2A usherin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:736503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:10729113|PMID:10909849|PMID:20507924|PMID:25649381|PMID:28492532|PMID:30303587 11776880 USH2A usherin gene DOID:0050572 cone-rod dystrophy ISO RGD:736503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:16963483|PMID:17405132|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19683999|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:20513143|PMID:21569298|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24498627|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25262649|PMID:25333064|PMID:25404053|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25991456|PMID:26338283|PMID:26633545|PMID:26872967|PMID:26927203|PMID:27208204|PMID:27460420|PMID:27957503|PMID:28041643|PMID:28492532|PMID:28512305|PMID:29293505|PMID:29953849|PMID:30718709|PMID:31836858|PMID:9624053 11776880 USH2A usherin gene DOID:0050572 cone-rod dystrophy ISO RGD:736503 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:16963483|PMID:17405132|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19683999|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:20513143|PMID:21569298|PMID:22135276|PMID:22581970|PMID:23591405|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24498627|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25262649|PMID:25333064|PMID:25404053|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25991456|PMID:26338283|PMID:26633545|PMID:26872967|PMID:26927203|PMID:27208204|PMID:27460420|PMID:27957503|PMID:28041643|PMID:28492532|PMID:28512305|PMID:28944237|PMID:29293505|PMID:29953849|PMID:30718709|PMID:31266775|PMID:31836858|PMID:31998945|PMID:32675063|PMID:33691693|PMID:9624053 11776880 USH2A usherin gene DOID:0050646 distal arthrogryposis ISO RGD:736503 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:9624053 11776880 USH2A usherin gene DOID:0050777 Joubert syndrome ISO RGD:736503 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16963483|PMID:24033266|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29767709|PMID:30245029|PMID:31429209 11776880 USH2A usherin gene DOID:0060041 autism spectrum disorder ISO RGD:736503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31209396 11776880 USH2A usherin gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:736503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 11776880 USH2A usherin gene DOID:0110360 retinitis pigmentosa 39 ISO RGD:736503 D RGD:7240710 20180130 OMIM 11776880 USH2A usherin gene DOID:0110360 retinitis pigmentosa 39 ISO RGD:736503 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 39 PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18452394|PMID:18463160|PMID:18641288|PMID:18665192|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19788668|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20613545|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21487335|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22563300|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23755871|PMID:23767834|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24875298|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25211151|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26352687|PMID:26355662|PMID:26377068|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26868535|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27145477|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28653555|PMID:28714225|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:28984810|PMID:29068140|PMID:29074561|PMID:29142287|PMID:29178603|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29899460|PMID:29912909|PMID:29940899|PMID:29953849|PMID:29986705|PMID:30073356|PMID:30081015|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30358468|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30733538|PMID:30796641|PMID:30872814|PMID:30902645|PMID:30948794|PMID:31047384|PMID:31054281|PMID:31213501|PMID:31231422|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31674169|PMID:31699113|PMID:31736247|PMID:31827275|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31904091|PMID:31960602|PMID:31998945|PMID:32036094|PMID:32037395|PMID:32093671|PMID:32098976|PMID:32100970|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32646269|PMID:32675063|PMID:32707200|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33105617|PMID:33111992|PMID:33124170|PMID:33576794|PMID:33623043|PMID:33691693|PMID:33926394|PMID:34008892|PMID:34031601|PMID:34148116|PMID:34203967|PMID:34426522|PMID:34781295|PMID:34837038|PMID:34948090|PMID:36314366|PMID:9536098|PMID:9624053 11776880 USH2A usherin gene DOID:0110563 autosomal dominant nonsyndromic deafness 36 ISO RGD:736503 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 36 11776880 USH2A usherin gene DOID:0110826 Usher syndrome type 1 ISO RGD:736503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:20301442|PMID:21569298|PMID:24033266|PMID:25741868|PMID:26667666|PMID:26927203|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30245029 11776880 USH2A usherin gene DOID:0110827 Usher syndrome type 2 ISO RGD:736503 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2 PMID:10729113|PMID:10738000|PMID:10909849|PMID:11311042|PMID:12525556|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15823922|PMID:16199547|PMID:16963483|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18452394|PMID:18463160|PMID:18641288|PMID:19683999|PMID:19881469|PMID:20052763|PMID:20497194|PMID:20507924|PMID:20513143|PMID:21487335|PMID:21569298|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22135276|PMID:23591405|PMID:23924366|PMID:24033266|PMID:24367894|PMID:24498627|PMID:24875298|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25211151|PMID:25262649|PMID:25324289|PMID:25333064|PMID:25356976|PMID:25404053|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26629787|PMID:26927203|PMID:27032803|PMID:27160483|PMID:27318125|PMID:27344577|PMID:27460420|PMID:27596865|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28492532|PMID:28559085|PMID:28653555|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29293505|PMID:29490346|PMID:29625443|PMID:29899460|PMID:29986705|PMID:30190494|PMID:30245029|PMID:30311386|PMID:30718709|PMID:30948794|PMID:31213501|PMID:31231422|PMID:31456290|PMID:31589614|PMID:32036094|PMID:32037395|PMID:32176120|PMID:32531858|PMID:32552793|PMID:32893482|PMID:33576794|PMID:34426522|PMID:35076463|PMID:36314366|PMID:9536098 11776880 USH2A usherin gene DOID:0110827 Usher syndrome type 2 susceptibility ISO RGD:736503 D RGD:9068941 20200609 RGD DNA:frameshift mutations, missense mutations, nonsense mutation:exon:multiple (human) PMID:15025721|REF_RGD_ID:8547952 11776880 USH2A usherin gene DOID:0110827 Usher syndrome type 2 susceptibility ISO RGD:736503 D RGD:9068941 20200609 RGD DNA:insertion, deletions, snps:multiple (human) PMID:18665195|REF_RGD_ID:8547965 11776880 USH2A usherin gene DOID:0110827 Usher syndrome type 2 susceptibility ISO RGD:736503 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:17405132|REF_RGD_ID:8547962 11776880 USH2A usherin gene DOID:0110827 Usher syndrome type 2 susceptibility ISO RGD:736503 D RGD:9068941 20200609 RGD DNA:snp:intron:c.7595-2144A>G (human) PMID:22009552|REF_RGD_ID:8547985 11776880 USH2A usherin gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:736503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome PMID:28492532 11776880 USH2A usherin gene DOID:0110838 Usher syndrome type 2A ISO RGD:736503 D RGD:7240710 20180130 OMIM 11776880 USH2A usherin gene DOID:0110838 Usher syndrome type 2A ISO RGD:736503 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18452394|PMID:18463160|PMID:18484607|PMID:18641288|PMID:18665192|PMID:18665195|PMID:18723146|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19788668|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20544672|PMID:20591486|PMID:20596040|PMID:20613545|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21487335|PMID:21569298|PMID:21593743|PMID:21681106|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22135276|PMID:22334370|PMID:22563300|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23029027|PMID:23591405|PMID:23661368|PMID:23661369|PMID:23737954|PMID:23755871|PMID:23767834|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24875298|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25211151|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25373420|PMID:25375654|PMID:25388789|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26352687|PMID:26355662|PMID:26377068|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26747767|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26856745|PMID:26868535|PMID:26872967|PMID:26927203|PMID:26969326|PMID:26992781|PMID:27032803|PMID:27057829|PMID:27145477|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27344577|PMID:27353947|PMID:27460420|PMID:27583663|PMID:27596865|PMID:27624628|PMID:27884173|PMID:27957503|PMID:28000701|PMID:28005958|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28704108|PMID:28714225|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28912962|PMID:28944237|PMID:28981474|PMID:28984810|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29151245|PMID:29178603|PMID:29196752|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29551606|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29655801|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29953849|PMID:29986705|PMID:30029497|PMID:30073356|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390381|PMID:30459346|PMID:30543658|PMID:30691450|PMID:30718709|PMID:30733538|PMID:30826590|PMID:30870047|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31054281|PMID:31152317|PMID:31213501|PMID:31231422|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31674169|PMID:31699113|PMID:31736247|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31904091|PMID:31960602|PMID:31998945|PMID:32036094|PMID:32037395|PMID:32090030|PMID:32093671|PMID:32176120|PMID:32188678|PMID:32467589|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32675063|PMID:32707200|PMID:32747562|PMID:32893482|PMID:33089500 11776880 USH2A usherin gene DOID:0110838 Usher syndrome type 2A ISO RGD:736503 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:33090715|PMID:33105608|PMID:33111992|PMID:33124170|PMID:33576794|PMID:33623043|PMID:33691693|PMID:34008892|PMID:34031601|PMID:34130719|PMID:34203883|PMID:34416374|PMID:34426522|PMID:34599368|PMID:34638692|PMID:34837038|PMID:35106950|PMID:9536098|PMID:9624053 11776880 USH2A usherin gene DOID:0110838 Usher syndrome type 2A ISO RGD:736503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18452394|PMID:18463160|PMID:18484607|PMID:18641288|PMID:18665192|PMID:18665195|PMID:18723146|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19788668|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20544672|PMID:20591486|PMID:20596040|PMID:20613545|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21487335|PMID:21569298|PMID:21593743|PMID:21681106|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22135276|PMID:22334370|PMID:22563300|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23029027|PMID:23352160|PMID:23591405|PMID:23661368|PMID:23661369|PMID:23737954|PMID:23755871|PMID:23767834|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24875298|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25211151|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25373420|PMID:25375654|PMID:25388789|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26352687|PMID:26355662|PMID:26377068|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26747767|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26856745|PMID:26868535|PMID:26872967|PMID:26927203|PMID:26969326|PMID:26992781|PMID:27032803|PMID:27057829|PMID:27145477|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27344577|PMID:27353947|PMID:27460420|PMID:27583663|PMID:27596865|PMID:27624628|PMID:27884173|PMID:27957503|PMID:28000701|PMID:28005958|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28704108|PMID:28714225|PMID:28761320|PMID:28798898|PMID:28838317|PMID:28894305|PMID:28912962|PMID:28944237|PMID:28981474|PMID:28984810|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29151245|PMID:29178603|PMID:29196752|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29551606|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29655801|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29953849|PMID:29986705|PMID:30029497|PMID:30073356|PMID:30081015|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390381|PMID:30459346|PMID:30543658|PMID:30691450|PMID:30718709|PMID:30733538|PMID:30826590|PMID:30870047|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31031587|PMID:31047384|PMID:31054281|PMID:31152317|PMID:31213501|PMID:31231422|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31541171|PMID:31589614|PMID:31674169|PMID:31699113|PMID:31736247|PMID:31827275|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31904091|PMID:31960602|PMID:31998945|PMID:32036094|PMID:32037395|PMID:32050993|PMID:32090030|PMID:32093671|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32467589|PMID:32531858 11776880 USH2A usherin gene DOID:0110838 Usher syndrome type 2A ISO RGD:736503 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32675063|PMID:32707200|PMID:32747562|PMID:32767731|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33111345|PMID:33111992|PMID:33124170|PMID:33297549|PMID:33576794|PMID:33623043|PMID:33691693|PMID:33926394|PMID:33946315|PMID:34008892|PMID:34031601|PMID:34130719|PMID:34148116|PMID:34203883|PMID:34203967|PMID:34416374|PMID:34426522|PMID:34448047|PMID:34599368|PMID:34638692|PMID:34837038|PMID:34948090|PMID:35076463|PMID:35106950|PMID:35114279|PMID:35802133|PMID:36314366|PMID:36633841|PMID:9536098|PMID:9624053 11776880 USH2A usherin gene DOID:0110838 Usher syndrome type 2A susceptibility ISO RGD:736503 D RGD:9068941 20200609 RGD DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human) PMID:9624053|REF_RGD_ID:8547987 11776880 USH2A usherin gene DOID:0110838 Usher syndrome type 2A susceptibility ISO RGD:736503 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:10729113|REF_RGD_ID:8547961 11776880 USH2A usherin gene DOID:0111013 cone-rod dystrophy 3 ISO RGD:736503 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 3 PMID:25741868|PMID:26261414|PMID:26306921|PMID:27032803|PMID:28492532|PMID:28981474|PMID:31213501|PMID:32098976 11776880 USH2A usherin gene DOID:10003 sensorineural hearing loss ISO RGD:736503 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:10729113|PMID:10909849|PMID:15015129|PMID:16963483|PMID:18273898|PMID:18463160|PMID:18641288|PMID:19683999|PMID:19881469|PMID:20507924|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25262649|PMID:25333064|PMID:25575603|PMID:25649381|PMID:25741868|PMID:26927203|PMID:27460420|PMID:28041643|PMID:28492532|PMID:28944237|PMID:29293505|PMID:30718709 11776880 USH2A usherin gene DOID:10283 prostate cancer ISO RGD:736503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11776880 USH2A usherin gene DOID:10584 retinitis pigmentosa ISO RGD:736503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29785639|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31699113|PMID:31836858|PMID:31872526|PMID:31960602|PMID:31998945|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32581362|PMID:32646269|PMID:33105608|PMID:33111992|PMID:34031601|PMID:9536098|PMID:9624053 11776880 USH2A usherin gene DOID:10584 retinitis pigmentosa ISO RGD:736503 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30192042|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31836858|PMID:31872526|PMID:31960602|PMID:31980526|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32646269|PMID:33089500|PMID:33105608|PMID:33111992|PMID:33576794|PMID:34031601|PMID:34203883|PMID:34426522|PMID:34638692|PMID:9536098|PMID:9624053 11776880 USH2A usherin gene DOID:10584 retinitis pigmentosa ISO RGD:736503 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30192042|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31816670|PMID:31836858|PMID:31872526|PMID:31960602|PMID:31980526|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32637036|PMID:32646269|PMID:33089500|PMID:33105608|PMID:33111992|PMID:33576794|PMID:33749171|PMID:34031601|PMID:34203883|PMID:34426522|PMID:34638692|PMID:9536098|PMID:9624053 11776880 USH2A usherin gene DOID:10584 retinitis pigmentosa ISO RGD:736503 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30192042|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31816670|PMID:31836858|PMID:31872526|PMID:31960602|PMID:31980526|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32637036|PMID:32646269|PMID:33089500|PMID:33105608|PMID:33111992|PMID:33576794|PMID:33749171|PMID:34031601|PMID:34203883|PMID:34426522|PMID:34638692|PMID:34948090|PMID:9536098|PMID:9624053 11776880 USH2A usherin gene DOID:10584 retinitis pigmentosa ISO RGD:736503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24227914|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29785639|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31816670|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32675063|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33111992|PMID:33124170|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33926394|PMID:34031601|PMID:34148116|PMID:34203883|PMID:34203967|PMID:34426522|PMID:34638692|PMID:34948090|PMID:9536098|PMID:9624053 11776880 USH2A usherin gene DOID:10584 retinitis pigmentosa ISO RGD:736503 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24227914|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29785639|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31816670|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32675063|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33111992|PMID:33124170|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33926394|PMID:34031601|PMID:34148116|PMID:34203883|PMID:34203967|PMID:34426522|PMID:34638692|PMID:34948090|PMID:36314366|PMID:9536098|PMID:9624053 11776880 USH2A usherin gene DOID:10584 retinitis pigmentosa susceptibility ISO RGD:736503 D RGD:9068941 20200609 RGD DNA:missense mutation, snp:cds, intron:p.G1734R, g.IVS32+1G>A (human) PMID:20309401|REF_RGD_ID:8547963 11776880 USH2A usherin gene DOID:10584 retinitis pigmentosa susceptibility ISO RGD:736503 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C759F (human) PMID:10775529|REF_RGD_ID:8547967 11776880 USH2A usherin gene DOID:10584 retinitis pigmentosa susceptibility ISO RGD:736503 D RGD:9068941 20200609 RGD DNA:snps, deletions, insertion:multiple (human) PMID:20507924|REF_RGD_ID:8547966 11776880 USH2A usherin gene DOID:1432 blindness ISO RGD:736503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blindness PMID:15015129|PMID:15043528|PMID:15241801|PMID:15325563|PMID:16963483|PMID:18273898|PMID:20513143|PMID:21569298|PMID:24033266|PMID:24498627|PMID:24944099|PMID:25575603|PMID:25741868|PMID:26927203|PMID:27460420|PMID:28492532 11776880 USH2A usherin gene DOID:14791 Leber congenital amaurosis ISO RGD:736503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:10729113|PMID:10909849|PMID:17085681|PMID:18273898|PMID:20507924|PMID:22334370|PMID:24033266|PMID:25078356|PMID:25133751|PMID:25324289|PMID:25404053|PMID:25445212|PMID:25649381|PMID:25741868|PMID:26927203|PMID:27057829|PMID:27957503|PMID:28492532|PMID:28512305|PMID:30718709|PMID:30870047|PMID:33105608|PMID:33691693 11776880 USH2A usherin gene DOID:1540 parathyroid carcinoma ISO RGD:736503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11776880 USH2A usherin gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736503 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:24033266|PMID:25741868|PMID:28041643|PMID:28492532 11776880 USH2A usherin gene DOID:2030 anxiety disorder ISO RGD:736503 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anxiety PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:9624053 11776880 USH2A usherin gene DOID:4448 macular degeneration ISO RGD:736503 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:9624053 11776880 USH2A usherin gene DOID:630 genetic disease ISO RGD:736503 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10090909|PMID:10729113|PMID:10775529|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:16098008|PMID:17085681|PMID:17296898|PMID:17405132|PMID:18273898|PMID:18641288|PMID:19023448|PMID:1968399|PMID:19683999|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:21151602|PMID:21738395|PMID:22004887|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:23591405|PMID:23661369|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25261458|PMID:25262649|PMID:25326637|PMID:25333064|PMID:25375654|PMID:25404053|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25823529|PMID:25910913|PMID:26355662|PMID:26633545|PMID:26764160|PMID:26872967|PMID:26969326|PMID:27460420|PMID:28041643|PMID:28130426|PMID:28492532|PMID:28653555|PMID:28944237|PMID:29283788|PMID:29588463|PMID:29912909|PMID:29953849|PMID:30718709|PMID:31836858|PMID:32188678|PMID:35076463|PMID:9624053 11776880 USH2A usherin gene DOID:8466 retinal degeneration ISO RGD:736503 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:10729113|PMID:10909849|PMID:11311042|PMID:14970843|PMID:15025721|PMID:15241801|PMID:15325563|PMID:16963483|PMID:18273898|PMID:18641288|PMID:19683999|PMID:20507924|PMID:23940504|PMID:24033266|PMID:24944099|PMID:25649381|PMID:25741868|PMID:26806561|PMID:26969326|PMID:27460420|PMID:28041643|PMID:28492532|PMID:30718709|PMID:33089500|PMID:34948090 11776880 USH2A usherin gene DOID:8501 fundus dystrophy ISO RGD:736503 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18452394|PMID:18463160|PMID:18641288|PMID:18665192|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301515|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20613545|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22563300|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23029027|PMID:23352160|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23755871|PMID:23767834|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25211151|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26856745|PMID:26868535|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27145477|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27344577|PMID:27460420|PMID:27583663|PMID:27596865|PMID:27624628|PMID:27957503|PMID:28000701|PMID:28005958|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28281779|PMID:28492532|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28714225|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:28984810|PMID:29074561|PMID:29142287|PMID:29151245|PMID:29196752|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29655801|PMID:29767709|PMID:29785639|PMID:29847639|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30029497|PMID:30073356|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30358468|PMID:30390381|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30796641|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31054281|PMID:31152317|PMID:31213501|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31736247|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31904091|PMID:31960602|PMID:31998945|PMID:32036094|PMID:32037395|PMID:32050993|PMID:32093671|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32467589|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32675063|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33111345|PMID:33111992|PMID:33576794|PMID:33926394|PMID:33946315|PMID:34008892|PMID:34031601|PMID:34203883|PMID:34426522|PMID:34599368|PMID:34837038|PMID:34948090|PMID:35076463|PMID:35106950|PMID:35266249|PMID:36314366|PMID:9536098|PMID:9624053 11776880 USH2A usherin gene DOID:9002775 Cognitive Dysfunction ISO RGD:736503 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:9624053 11776880 USH2A usherin gene DOID:9003171 Primary Dysautonomias ISO RGD:736503 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dysautonomia PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:9624053 11776880 USH2A usherin gene DOID:9004538 Hearing Loss ISO RGD:736503 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:10729113|PMID:10909849|PMID:14970843|PMID:15015129|PMID:15241801|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17405132|PMID:18273898|PMID:18463160|PMID:18641288|PMID:19683999|PMID:19881469|PMID:20507924|PMID:21569298|PMID:22004887|PMID:22135276|PMID:24033266|PMID:24944099|PMID:25262649|PMID:25333064|PMID:25342620|PMID:25366773|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25999674|PMID:26467025|PMID:26927203|PMID:27460420|PMID:28041643|PMID:28157192|PMID:28492532|PMID:28559085|PMID:28944237|PMID:29151245|PMID:29293505|PMID:30192042|PMID:30245029|PMID:30311386|PMID:30718709|PMID:30872814|PMID:31054281|PMID:32037395|PMID:32531858|PMID:33089500 11776880 USH2A usherin gene DOID:9004538 Hearing Loss ISO RGD:736503 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:10729113|PMID:10909849|PMID:14970843|PMID:15015129|PMID:15241801|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17405132|PMID:18273898|PMID:18463160|PMID:18641288|PMID:19683999|PMID:19881469|PMID:20507924|PMID:21569298|PMID:22004887|PMID:22135276|PMID:24033266|PMID:24944099|PMID:25262649|PMID:25333064|PMID:25342620|PMID:25366773|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25999674|PMID:26467025|PMID:26927203|PMID:27460420|PMID:28041643|PMID:28157192|PMID:28492532|PMID:28559085|PMID:28944237|PMID:29151245|PMID:29293505|PMID:30245029|PMID:30311386|PMID:30718709|PMID:30872814|PMID:31054281|PMID:32037395|PMID:32531858 11776880 USH2A usherin gene DOID:9007661 Dwarfism ISO RGD:736503 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Short stature PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:9624053 11776880 USH2A usherin gene DOID:9008520 Chronic Pain ISO RGD:736503 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chronic pain PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:9624053 11776880 USH2A usherin gene DOID:9008681 Deafness ISO RGD:736503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness PMID:10729113|PMID:10909849|PMID:20507924|PMID:25649381|PMID:28492532|PMID:30303587 11776880 USH2A usherin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11776956 SVIP small VCP interacting protein gene DOID:1059 intellectual disability ISO RGD:2306136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11776956 SVIP small VCP interacting protein gene DOID:630 genetic disease ISO RGD:2306136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11776964 PDZRN4 PDZ domain containing ring finger 4 gene DOID:10325 silicosis ISO RGD:1318876 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24986923 11776964 PDZRN4 PDZ domain containing ring finger 4 gene DOID:630 genetic disease ISO RGD:1318876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11776975 CATSPERE catsper channel auxiliary subunit epsilon gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1604494 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11776975 CATSPERE catsper channel auxiliary subunit epsilon gene DOID:1540 parathyroid carcinoma ISO RGD:1604494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11776975 CATSPERE catsper channel auxiliary subunit epsilon gene DOID:630 genetic disease ISO RGD:1604494 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11776975 CATSPERE catsper channel auxiliary subunit epsilon gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1604494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:28492532 11776975 CATSPERE catsper channel auxiliary subunit epsilon gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11777000 CATSPER1 cation channel sperm associated 1 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1321252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 11777000 CATSPER1 cation channel sperm associated 1 gene DOID:0070173 spermatogenic failure 7 ISO RGD:1321252 D RGD:7240710 20180130 OMIM 11777000 CATSPER1 cation channel sperm associated 1 gene DOID:0070173 spermatogenic failure 7 ISO RGD:1321252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 7 PMID:19344877|PMID:20301780|PMID:21255775|PMID:24442342|PMID:25741868|PMID:28492532 11777000 CATSPER1 cation channel sperm associated 1 gene DOID:1059 intellectual disability ISO RGD:1321252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11777000 CATSPER1 cation channel sperm associated 1 gene DOID:12336 male infertility ISO RGD:1321252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 11777000 CATSPER1 cation channel sperm associated 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1321252 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11777000 CATSPER1 cation channel sperm associated 1 gene DOID:2746 glycogen storage disease V ISO RGD:1321252 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11777000 CATSPER1 cation channel sperm associated 1 gene DOID:630 genetic disease ISO RGD:1321252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11777000 CATSPER1 cation channel sperm associated 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1321252 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11777000 CATSPER1 cation channel sperm associated 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1321252 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11777019 BTBD6 BTB domain containing 6 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1352605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11777019 BTBD6 BTB domain containing 6 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1352605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 11777019 BTBD6 BTB domain containing 6 gene DOID:630 genetic disease ISO RGD:1352605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11777069 NEGR1 neuronal growth regulator 1 gene DOID:1059 intellectual disability ISO RGD:1348692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11777069 NEGR1 neuronal growth regulator 1 gene DOID:5434 scrapie ISO RGD:1332157 D RGD:9068941 20201204 RGD PMID:29087046|REF_RGD_ID:40886276 11777069 NEGR1 neuronal growth regulator 1 gene DOID:630 genetic disease ISO RGD:1348692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11777069 NEGR1 neuronal growth regulator 1 gene DOID:9970 obesity ISO RGD:1348692 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19079261 11777080 LAMTOR1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1605997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 11777080 LAMTOR1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1605997 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11777080 LAMTOR1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 gene DOID:1059 intellectual disability ISO RGD:1605997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11777080 LAMTOR1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 gene DOID:630 genetic disease ISO RGD:1605997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11777119 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11777119 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1347132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 11777119 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:12849 autistic disorder ISO RGD:1347132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11777119 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:2799 bronchiolitis obliterans ISO RGD:732736 D RGD:9068941 20200609 RGD PMID:17182591|REF_RGD_ID:4146242 11777119 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:2841 asthma ISO RGD:1347132 D RGD:9068941 20200609 RGD DNA:polymorphism: :1398A>G (human) PMID:17006604|REF_RGD_ID:4892639 11777119 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:2841 asthma ISO RGD:732736 D RGD:9068941 20200609 RGD PMID:11714828|PMID:18480254|REF_RGD_ID:4892647|REF_RGD_ID:4892654 11777119 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:2841 asthma ISO RGD:732736 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchus PMID:20383033|REF_RGD_ID:4892646 11777119 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:2841 asthma no_association ISO RGD:1347132 D RGD:9068941 20200609 RGD DNA:polymorphism: :1050C>T (human) PMID:10686479|REF_RGD_ID:4892655 11777119 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:2841 asthma no_association ISO RGD:1347132 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, 3' utr:-281T>G, 1365A>G (human) PMID:17392323|REF_RGD_ID:4892650 11777119 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1347132 D RGD:9068941 20200609 RGD DNA:SNP: :rs2250747 (human) PMID:19796199|REF_RGD_ID:4145601 11777119 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:3310 atopic dermatitis ISO RGD:1347132 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:14527737|REF_RGD_ID:8549525 11777119 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:418 systemic scleroderma no_association ISO RGD:1347132 D RGD:9068941 20200609 RGD DNA:SNP:intron:43163G>A (rs6646259) (human) PMID:22045834|REF_RGD_ID:8549502 11777119 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:630 genetic disease ISO RGD:1347132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11777119 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:6432 pulmonary hypertension ISO RGD:1347132 D RGD:9068941 20200609 RGD PMID:20808962|REF_RGD_ID:4892610 11777119 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:6432 pulmonary hypertension ISO RGD:732736 D RGD:9068941 20200609 RGD PMID:20671265|REF_RGD_ID:4892611 11777119 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:8893 psoriasis ISO RGD:1347132 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:14527737|REF_RGD_ID:8549525 11777119 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 11777135 MTSS2 MTSS I-BAR domain containing 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1603934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11777135 MTSS2 MTSS I-BAR domain containing 2 gene DOID:0081301 intellectual developmental disorder with ocular anomalies and distinctive facial features ISO RGD:1603934 D RGD:7240710 20221102 OMIM 11777135 MTSS2 MTSS I-BAR domain containing 2 gene DOID:0081301 intellectual developmental disorder with ocular anomalies and distinctive facial features ISO RGD:1603934 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: MTSS2-related neurodevelopmental disorder PMID:25741868|PMID:36067766 11777135 MTSS2 MTSS I-BAR domain containing 2 gene DOID:630 genetic disease ISO RGD:1603934 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11777135 MTSS2 MTSS I-BAR domain containing 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1603934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 11777151 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:0060027 agammaglobulinemia 4 ISO RGD:1350073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive PMID:28492532 11777151 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:0070131 autosomal dominant cutis laxa 3 ISO RGD:1350073 D RGD:7240710 20180130 OMIM 11777151 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:0070131 autosomal dominant cutis laxa 3 ISO RGD:1350073 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 3 PMID:16199547|PMID:17576681|PMID:21739576|PMID:24913064|PMID:25741868|PMID:26026163|PMID:26297558|PMID:26320891|PMID:26829900|PMID:28228640|PMID:28492532|PMID:8779323|PMID:9536098|PMID:9643297 11777151 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:0070132 autosomal recessive cutis laxa type IIIA ISO RGD:1350073 D RGD:7240710 20180130 OMIM 11777151 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:0070132 autosomal recessive cutis laxa type IIIA ISO RGD:1350073 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cutis laxa-corneal clouding-oligophrenia syndrome | ClinVar Annotator: match by term: DE BARSY SYNDROME A PMID:11092761|PMID:16199547|PMID:17576681|PMID:18478038|PMID:21739576|PMID:24767728|PMID:24913064|PMID:25077174|PMID:25326637|PMID:25741868|PMID:26026163|PMID:26297558|PMID:26320891|PMID:28492532|PMID:30244529|PMID:36067040|PMID:8779323|PMID:9536098 11777151 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:0070142 autosomal dominant cutis laxa ISO RGD:1350073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11777151 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:0070143 autosomal recessive cutis laxa type III ISO RGD:1350073 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Progeroid syndrome of De Barsy | ClinVar Annotator: match by term: de Barsy syndrome PMID:16199547|PMID:17576681|PMID:21739576|PMID:24913064|PMID:25741868|PMID:26026163|PMID:26297558|PMID:28492532|PMID:8779323|PMID:9536098 11777151 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:1350073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A PMID:25741868|PMID:28492532 11777151 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:0110824 hereditary spastic paraplegia 9A ISO RGD:1350073 D RGD:7240710 20180130 OMIM 11777151 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:0110824 hereditary spastic paraplegia 9A ISO RGD:1350073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 9A | ClinVar Annotator: match by term: SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX PMID:16199547|PMID:17576681|PMID:21739576|PMID:22411858|PMID:24913064|PMID:25741868|PMID:26026163|PMID:26297558|PMID:26320891|PMID:26829900|PMID:28492532|PMID:28567303|PMID:28604674|PMID:29915212|PMID:30244529|PMID:31130284|PMID:31402623|PMID:32342562|PMID:32798076|PMID:33144682|PMID:8779323|PMID:9536098|PMID:9973297 11777151 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:0110825 hereditary spastic paraplegia 9B ISO RGD:1350073 D RGD:7240710 20180130 OMIM 11777151 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:0110825 hereditary spastic paraplegia 9B ISO RGD:1350073 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia type 9B | ClinVar Annotator: match by term: Spastic paraplegia 9b, autosomal recessive PMID:25741868|PMID:26026163|PMID:26297558|PMID:28492532|PMID:29915212|PMID:32798076|PMID:36067040 11777151 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:0112281 spondyloepiphyseal dysplasia Stanescu type ISO RGD:1350073 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, Stanescu type PMID:25741868|PMID:28492532|PMID:36067040 11777151 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:1059 intellectual disability ISO RGD:1350073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11777151 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:1283 enterocele ISO RGD:1350073 D RGD:9068941 20200609 RGD DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human) PMID:26320891|REF_RGD_ID:13434923 11777151 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1350073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 11777151 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:3910 lung adenocarcinoma ISO RGD:1350073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11777151 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:630 genetic disease ISO RGD:1350073 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26026163|PMID:26297558|PMID:28492532|PMID:31402623|PMID:36067040|PMID:9973297 11777151 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:83 cataract ISO RGD:1350073 D RGD:9068941 20200609 RGD DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human) PMID:26320891|REF_RGD_ID:13434923 11777151 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:9001734 Neurocutaneous Syndromes ISO RGD:1350073 D RGD:9068941 20200609 RGD DNA:missense mutation;exon:2350C>T(p.H784Y)(human) PMID:18478038|REF_RGD_ID:13439711 11777151 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:9002034 Autosomal Recessive Cutis Laxa ISO RGD:1350073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, recessive 11777151 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1350073 D RGD:9068941 20200609 RGD DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human) PMID:26320891|REF_RGD_ID:13434923 11777151 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:9006205 Animal Disease Models ISO RGD:1350073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11777151 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:9006534 Nervous System Malformations ISO RGD:1350073 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25077174|PMID:25326637|PMID:25741868 11777182 SMLR1 small leucine rich protein 1 gene DOID:630 genetic disease ISO RGD:7205347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11777188 TMEM61 transmembrane protein 61 gene DOID:630 genetic disease ISO RGD:1604209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11777195 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:0070355 overactive bladder syndrome ISO RGD:1303284 D RGD:9068941 20200609 RGD PMID:21367919|REF_RGD_ID:10043365 11777195 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:0070355 overactive bladder syndrome ISO RGD:1344231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21367919|PMID:23523557 11777195 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:0111729 familial episodic pain syndrome 1 ISO RGD:1344231 D RGD:7240710 20180130 OMIM 11777195 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:0111729 familial episodic pain syndrome 1 ISO RGD:1344231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial episodic pain syndrome 1 PMID:20547126|PMID:25741868 11777195 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:2841 asthma ISO RGD:1344231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19458046 11777195 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:2841 asthma severity ISO RGD:1303284 D RGD:9068941 20210709 RGD ovalbumin sensitization PMID:31969645|REF_RGD_ID:127285811 11777195 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1344231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11777195 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1303284 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:urinary bladder, dorsal root ganglion: PMID:21367919|REF_RGD_ID:10043365 11777195 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:9000133 Sneezing ISO RGD:1344231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27545873 11777195 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:9000194 Cold Hypersensitivity ISO RGD:1303284 D RGD:9068941 20200609 RGD associated with Peripheral Nerve Injuries; PMID:21068322|REF_RGD_ID:10043615 11777195 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:9000641 Pain ISO RGD:1344231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20601631 11777195 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1344231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19458046 11777195 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:1303284 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion: PMID:18514429|REF_RGD_ID:10043379 11777195 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:9002211 Hyperalgesia ISO RGD:1303284 D RGD:9068941 20200609 RGD associated with Peripheral Nerve Injuries; PMID:18954467|REF_RGD_ID:10043618 11777195 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:9002211 Hyperalgesia ISO RGD:1344231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18234885|PMID:21481532|PMID:23523557 11777195 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:9005372 Inflammation ISO RGD:1344231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20601631 11777195 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:9005734 Abdominal Pain ISO RGD:1303284 D RGD:9068941 20200609 RGD PMID:24291101|REF_RGD_ID:10043376 11777195 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:9007073 Cough ISO RGD:1344231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27545873 11777195 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:9008820 Visceral Pain ISO RGD:1303284 D RGD:9068941 20200609 RGD associated with Colitis; PMID:23099257|REF_RGD_ID:10043788 11777195 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:9743 diabetic neuropathy ISO RGD:1303284 D RGD:9068941 20200609 RGD PMID:22133672|REF_RGD_ID:10043378 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1319782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1319782 D RGD:9068941 20221117 RGD DNA:missense mutations: :multiple (human) PMID:27426733|REF_RGD_ID:11552867 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:0111787 frontometaphyseal dysplasia 2 ISO RGD:1319782 D RGD:7240710 20190315 OMIM 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:0111787 frontometaphyseal dysplasia 2 ISO RGD:1319782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia 2 PMID:25741868|PMID:25899317|PMID:27426733|PMID:28492532 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:10283 prostate cancer ISO RGD:1319782 D RGD:9068941 20200609 RGD DNA:deletion PMID:17785553|REF_RGD_ID:2298803 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:11520 benign hypertensive renal disease ISO RGD:1319782 D RGD:9068941 20221222 RGD protein:increased expression:cortex of kidney (human) PMID:34584221|REF_RGD_ID:155791449 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1319782 D RGD:9068941 20221231 RGD protein:increased phosphorylation:heart (human) PMID:27249171|REF_RGD_ID:155646134 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:11984 hypertrophic cardiomyopathy treatment ISO RGD:1319783 D RGD:9068941 20221110 RGD PMID:27249171|REF_RGD_ID:155646134 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319782 D RGD:9068941 20221231 RGD protein:increased phosphorylation:heart (human) PMID:27249171|REF_RGD_ID:155646134 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:13619 extrahepatic cholestasis ISO RGD:1319782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:224 transient cerebral ischemia ameliorates ISO RGD:1319783 D RGD:9068941 20230128 RGD PMID:32078472|PMID:32349637|PMID:32382778|PMID:34628598|REF_RGD_ID:155791642|REF_RGD_ID:155804272|REF_RGD_ID:155804283|REF_RGD_ID:155804284 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:2316 brain ischemia treatment ISO RGD:1319783 D RGD:9068941 20230128 RGD PMID:21475303|REF_RGD_ID:155882442 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:2349 arteriosclerosis ameliorates ISO RGD:1309438 D RGD:9068941 20230128 RGD PMID:35078016|REF_RGD_ID:155804282 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1319783 D RGD:9068941 20221117 RGD mRNA, protein:increased expression:lung (mouse) PMID:34331613|REF_RGD_ID:155663371 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:3393 coronary artery disease ISO RGD:1319782 D RGD:9068941 20221222 RGD associated with hypothyroidism;mRNA:decreased expression:venous blood (human) PMID:32495070|REF_RGD_ID:155791451 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1319783 D RGD:9068941 20220825 MouseDO OMIM:194200 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:4724 brain edema ISO RGD:1319783 D RGD:9068941 20230128 RGD PMID:26347470|REF_RGD_ID:11074637 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:4905 pancreatic carcinoma ISO RGD:1319782 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34686948 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:5844 myocardial infarction ISO RGD:1309438 D RGD:9068941 20230105 RGD mRNA, protein:increased expression:myocardium (rat) PMID:16183734|REF_RGD_ID:2298758 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:5844 myocardial infarction treatment ISO RGD:1309438 D RGD:9068941 20230202 RGD PMID:27121011|REF_RGD_ID:11073666 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:6000 congestive heart failure ISO RGD:1319783 D RGD:9068941 20230128 RGD PMID:10802712|PMID:25278099|REF_RGD_ID:11534146|REF_RGD_ID:155804285 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:6000 congestive heart failure treatment ISO RGD:1319783 D RGD:9068941 20230105 RGD PMID:26706286|REF_RGD_ID:155791673 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:630 genetic disease ISO RGD:1319782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:784 chronic kidney disease ISO RGD:1309438 D RGD:9068941 20230128 RGD protein:increased expression:aorta (rat) PMID:32581266|REF_RGD_ID:155804294 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:1309438 D RGD:9068941 20230112 RGD PMID:29273596|REF_RGD_ID:155804269 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9000890 Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones ISO RGD:1319782 D RGD:7240710 20190315 OMIM 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9000890 Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones ISO RGD:1319782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiospondylocarpofacial syndrome PMID:20186786|PMID:25741868|PMID:27426733|PMID:27426734|PMID:28492532|PMID:29467388|PMID:32105826 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9000998 Brain Injuries treatment ISO RGD:1309438 D RGD:9068941 20230128 RGD associated with Subarachnoid Hemorrhage PMID:26100626|PMID:27000704|REF_RGD_ID:155791672|REF_RGD_ID:155804286 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9000998 Brain Injuries treatment ISO RGD:1319783 D RGD:9068941 20230128 RGD associated with Subarachnoid Hemorrhage PMID:33414375|REF_RGD_ID:155882440 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9001820 Pulmonary Arterial Hypertension treatment ISO RGD:1309438 D RGD:9068941 20230128 RGD PMID:35582418|REF_RGD_ID:155804297 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9002159 Liver Reperfusion Injury ameliorates ISO RGD:1319783 D RGD:9068941 20230114 RGD PMID:30076625|REF_RGD_ID:155804280 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9002159 Liver Reperfusion Injury exacerbates ISO RGD:1319783 D RGD:9068941 20230128 RGD protein:increased phosphorylation:liver (mouse) PMID:30622220|REF_RGD_ID:155882441 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9002202 Opsismodysplasia ISO RGD:1319782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Delayed skeletal maturation PMID:25741868 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9002220 Forney Robinson Pascoe Syndrome ISO RGD:1319782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9002304 Prostatic Neoplasms no_association ISO RGD:1319782 D RGD:9068941 20200609 RGD based one the lack of correlation to loss of heterozygosity (LOH) PMID:12967473|REF_RGD_ID:2298805 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9003139 Cardiac Fibrosis ISO RGD:1319783 D RGD:9068941 20230128 RGD associated with obesity;protein:increased phosphorylation:heart (mouse) PMID:29143862|REF_RGD_ID:155804300 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:1309438 D RGD:9068941 20230105 RGD PMID:32543140|REF_RGD_ID:155791675 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1309438 D RGD:9068941 20230112 RGD protein:increased expression:brain (rat) PMID:32734729|REF_RGD_ID:155804275 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9003676 Brain Hypoxia-Ischemia ameliorates ISO RGD:1319783 D RGD:9068941 20230112 RGD PMID:29138854|REF_RGD_ID:155804273 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9003936 Cardiomegaly ISO RGD:1309438 D RGD:9068941 20230105 RGD mRNA:increased expression:wall of left ventricle (rat) PMID:30854566|REF_RGD_ID:155791647 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9003936 Cardiomegaly ISO RGD:1319783 D RGD:9068941 20230105 RGD protein:increased phosphorylation:heart (mouse) PMID:27956576|PMID:32971071|PMID:35490166|REF_RGD_ID:155791643|REF_RGD_ID:155791649|REF_RGD_ID:155791668 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9003936 Cardiomegaly ameliorates ISO RGD:1319783 D RGD:9068941 20230105 RGD PMID:30407523|REF_RGD_ID:155791650 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1309438 D RGD:9068941 20230112 RGD PMID:28821620|REF_RGD_ID:155804266 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1319783 D RGD:9068941 20230105 RGD PMID:26891723|PMID:31885808|PMID:34733837|REF_RGD_ID:11555743|REF_RGD_ID:155791644|REF_RGD_ID:155791674 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9004994 Embryo Loss ISO RGD:1319783 D RGD:9068941 20221117 RGD PMID:22972987|REF_RGD_ID:155663421 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:1309438 D RGD:9068941 20230202 RGD associated with type 2 diabetes mellitus;protein:decreased expression:myocardium of ventricle (rat) PMID:22146585|REF_RGD_ID:155883162 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9007096 Stroke treatment ISO RGD:1319783 D RGD:9068941 20221222 RGD PMID:33434616|REF_RGD_ID:155791452 11777233 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9007346 Cachexia treatment ISO RGD:1309438 D RGD:9068941 20230105 RGD associated with Pulmonary Arterial Hypertension PMID:30554141|REF_RGD_ID:155791671 11777271 SMNDC1 survival motor neuron domain containing 1 gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:1319332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 11777271 SMNDC1 survival motor neuron domain containing 1 gene DOID:630 genetic disease ISO RGD:1319332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11777281 ATP8B3 ATPase phospholipid transporting 8B3 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1316924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 11777281 ATP8B3 ATPase phospholipid transporting 8B3 gene DOID:5339 cyclic hematopoiesis ISO RGD:1316924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11777281 ATP8B3 ATPase phospholipid transporting 8B3 gene DOID:630 genetic disease ISO RGD:1316924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11777281 ATP8B3 ATPase phospholipid transporting 8B3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11777311 TEX15 testis expressed 15, meiosis and synapsis associated gene DOID:0070168 spermatogenic failure 3 ISO RGD:1322630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:28492532|PMID:31479588 11777311 TEX15 testis expressed 15, meiosis and synapsis associated gene DOID:0070188 spermatogenic failure 1 ISO RGD:1322630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligosynaptic infertility PMID:26199321 11777311 TEX15 testis expressed 15, meiosis and synapsis associated gene DOID:0111920 spermatogenic failure 25 ISO RGD:1322630 D RGD:7240710 20190315 OMIM 11777311 TEX15 testis expressed 15, meiosis and synapsis associated gene DOID:0111920 spermatogenic failure 25 ISO RGD:1322630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 25 PMID:25741868|PMID:26199321|PMID:28355598|PMID:28492532 11777311 TEX15 testis expressed 15, meiosis and synapsis associated gene DOID:2661 myoepithelioma ISO RGD:1322630 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11777311 TEX15 testis expressed 15, meiosis and synapsis associated gene DOID:630 genetic disease ISO RGD:1322630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11777338 LOC100975788 olfactory receptor 2A1/2A42 gene DOID:630 genetic disease ISO RGD:1343723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11777343 FPR2 formyl peptide receptor 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1316624 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 11777343 FPR2 formyl peptide receptor 2 gene DOID:630 genetic disease ISO RGD:1316624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11777343 FPR2 formyl peptide receptor 2 gene DOID:8778 Crohn's disease ISO RGD:1316624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21659618 11777349 ADGRG3 adhesion G protein-coupled receptor G3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1313843 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11777349 ADGRG3 adhesion G protein-coupled receptor G3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1313843 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11777349 ADGRG3 adhesion G protein-coupled receptor G3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1313843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11777349 ADGRG3 adhesion G protein-coupled receptor G3 gene DOID:630 genetic disease ISO RGD:1313843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11777365 ANKRD53 ankyrin repeat domain 53 gene DOID:543 dystonia ISO RGD:1605329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11777365 ANKRD53 ankyrin repeat domain 53 gene DOID:630 genetic disease ISO RGD:1605329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11777365 ANKRD53 ankyrin repeat domain 53 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1605329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11777375 TPH2 tryptophan hydroxylase 2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:736716 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Tryptophan 5-monooxygenase deficiency PMID:15167691|PMID:16378243|PMID:17905754|PMID:18181017|PMID:18339632|PMID:18347598|PMID:18444257|PMID:19319927|PMID:19588223|PMID:22915309|PMID:25741868|PMID:28492532 11777375 TPH2 tryptophan hydroxylase 2 gene DOID:12849 autistic disorder ISO RGD:736716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15768392 11777375 TPH2 tryptophan hydroxylase 2 gene DOID:12849 autistic disorder ISO RGD:736716 D RGD:9068941 20200609 RGD DNA:SNPs:introns PMID:15768392|REF_RGD_ID:5686360 11777375 TPH2 tryptophan hydroxylase 2 gene DOID:12849 autistic disorder no_association ISO RGD:736716 D RGD:9068941 20200609 RGD DNA:SNPs: :rs4341581, rs11179000 (human) PMID:16958027|REF_RGD_ID:5686361 11777375 TPH2 tryptophan hydroxylase 2 gene DOID:1470 major depressive disorder ISO RGD:736716 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Major depressive disorder PMID:17905754|PMID:18347598|PMID:19319927|PMID:25741868 11777375 TPH2 tryptophan hydroxylase 2 gene DOID:1470 major depressive disorder susceptibility ISO RGD:736716 D RGD:7240710 20230505 OMIM 11777375 TPH2 tryptophan hydroxylase 2 gene DOID:1595 melancholic depression ISO RGD:1332580 D RGD:9068941 20220825 MouseDO OMIM:608516 11777375 TPH2 tryptophan hydroxylase 2 gene DOID:1596 depressive disorder ISO RGD:736716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17950541 11777375 TPH2 tryptophan hydroxylase 2 gene DOID:3312 bipolar disorder ISO RGD:736716 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bipolar affective disorder, susceptibility to PMID:17905754|PMID:18347598|PMID:19319927|PMID:25741868 11777375 TPH2 tryptophan hydroxylase 2 gene DOID:594 panic disorder susceptibility ISO RGD:736716 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs1386494) (human) PMID:17123728|REF_RGD_ID:5686356 11777375 TPH2 tryptophan hydroxylase 2 gene DOID:630 genetic disease ISO RGD:736716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11777375 TPH2 tryptophan hydroxylase 2 gene DOID:6432 pulmonary hypertension severity ISO RGD:1332580 D RGD:9068941 20200609 RGD DNA:SNP: :1473C>G (mouse) PMID:17675372|REF_RGD_ID:5686352 11777375 TPH2 tryptophan hydroxylase 2 gene DOID:9000972 Fever ISO RGD:736716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20722968 11777375 TPH2 tryptophan hydroxylase 2 gene DOID:9002656 Attention Deficit-Hyperactivity Disorder 7 ISO RGD:736716 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Attention deficit-hyperactivity disorder, susceptibility to, 7 PMID:19319927|PMID:25741868 11777375 TPH2 tryptophan hydroxylase 2 gene DOID:9002656 Attention Deficit-Hyperactivity Disorder 7 susceptibility ISO RGD:736716 D RGD:7240710 20220720 OMIM 11777390 SUN2 Sad1 and UNC84 domain containing 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1322098 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11777390 SUN2 Sad1 and UNC84 domain containing 2 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1322098 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11777390 SUN2 Sad1 and UNC84 domain containing 2 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1322098 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11777390 SUN2 Sad1 and UNC84 domain containing 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1322098 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:16199547|PMID:16783378|PMID:17576681|PMID:18570303|PMID:18799783|PMID:22213678|PMID:25210889|PMID:28492532|PMID:9536098 11777390 SUN2 Sad1 and UNC84 domain containing 2 gene DOID:630 genetic disease ISO RGD:1322098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11777417 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11777417 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 11777417 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11777417 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11777417 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:0080420 developmental and epileptic encephalopathy 62 ISO RGD:736601 D RGD:7240710 20190315 OMIM 11777417 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:0080420 developmental and epileptic encephalopathy 62 ISO RGD:736601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 62 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 62 | ClinVar Annotator: match by term: SCN3A-related neurodevelopmental disorder PMID:16199547|PMID:17576681|PMID:25741868|PMID:26467025|PMID:28235671|PMID:28492532|PMID:29466837|PMID:29740860|PMID:30146301|PMID:30542205|PMID:30904718|PMID:32515017|PMID:34081427|PMID:9536098 11777417 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11777417 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:0080918 polymicrogyria ISO RGD:736601 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:25741868|PMID:28235671|PMID:28492532|PMID:29466837|PMID:29740860|PMID:30146301|PMID:30904718|PMID:32515017|PMID:34081427 11777417 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:21893419|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27153334|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11777417 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 11777417 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:0111112 nephronophthisis 1 ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 11777417 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:0111295 generalized epilepsy with febrile seizures plus 7 ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11777417 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:0111321 idiopathic generalized epilepsy 7 ISO RGD:736601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 PMID:25741868 11777417 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11777417 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:1059 intellectual disability ISO RGD:736601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11777417 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:12382 complex partial epilepsy ISO RGD:736601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18242854 11777417 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:12712 nephronophthisis ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 11777417 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial neonatal seizures PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11777417 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:1826 epilepsy ISO RGD:736601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 11777417 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:630 genetic disease ISO RGD:736601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10051516|PMID:22787448|PMID:24157691|PMID:25741868|PMID:28492532|PMID:29466837|PMID:32515017 11777417 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3635 D RGD:9068941 20200609 RGD PMID:16109750|PMID:16718433|REF_RGD_ID:2317320|REF_RGD_ID:2317321 11777417 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736601 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11777417 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:9009166 Familial Focal Epilepsy, with Variable Foci 4 ISO RGD:736601 D RGD:7240710 20190315 OMIM 11777417 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:9009166 Familial Focal Epilepsy, with Variable Foci 4 ISO RGD:736601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 4 | ClinVar Annotator: match by term: SCN3A- Related Disorder PMID:18242854|PMID:20420834|PMID:24157691|PMID:24157694|PMID:25741868|PMID:26467025|PMID:28235671|PMID:28492532|PMID:29466837|PMID:29740860|PMID:30146301|PMID:30904718|PMID:32515017|PMID:34081427 11777449 UGGT2 UDP-glucose glycoprotein glucosyltransferase 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1351683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 11777449 UGGT2 UDP-glucose glycoprotein glucosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1351683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11777449 UGGT2 UDP-glucose glycoprotein glucosyltransferase 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1351683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11777492 DGKZ diacylglycerol kinase zeta gene DOID:0050444 infantile Refsum disease ISO RGD:733860 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 11777492 DGKZ diacylglycerol kinase zeta gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:733860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11777492 DGKZ diacylglycerol kinase zeta gene DOID:1059 intellectual disability ISO RGD:733860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11777492 DGKZ diacylglycerol kinase zeta gene DOID:5844 myocardial infarction ISO RGD:733860 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17071729 11777492 DGKZ diacylglycerol kinase zeta gene DOID:630 genetic disease ISO RGD:733860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11777492 DGKZ diacylglycerol kinase zeta gene DOID:9002669 Hypoxia ISO RGD:70929 D RGD:9068941 20200609 RGD protein:decreased dimerization:hippocampus (rat) PMID:24893663|REF_RGD_ID:9590077 11777492 DGKZ diacylglycerol kinase zeta gene DOID:9008086 Developmental Disabilities ISO RGD:733860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11777492 DGKZ diacylglycerol kinase zeta gene DOID:905 Zellweger syndrome ISO RGD:733860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 11777549 SPATA2 spermatogenesis associated 2 gene DOID:630 genetic disease ISO RGD:731260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11777557 RPAP2 RNA polymerase II associated protein 2 gene DOID:630 genetic disease ISO RGD:1602679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11777579 LOC100985638 histone H2B type 1-N gene DOID:630 genetic disease ISO RGD:1317658 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11777586 SH3BP5 SH3 domain binding protein 5 gene DOID:0060417 3p deletion syndrome ISO RGD:733305 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 11777586 SH3BP5 SH3 domain binding protein 5 gene DOID:630 genetic disease ISO RGD:733305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11777615 TRPV2 transient receptor potential cation channel subfamily V member 2 gene DOID:630 genetic disease ISO RGD:1346359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11777615 TRPV2 transient receptor potential cation channel subfamily V member 2 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1332143 D RGD:9068941 20200609 RGD PMID:25869297|REF_RGD_ID:9999444 11777615 TRPV2 transient receptor potential cation channel subfamily V member 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1346359 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:32751388 11777640 TNPO3 transportin 3 gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1318997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 PMID:28492532 11777640 TNPO3 transportin 3 gene DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 ISO RGD:1318997 D RGD:7240710 20180130 OMIM 11777640 TNPO3 transportin 3 gene DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 ISO RGD:1318997 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F PMID:11222786|PMID:16199547|PMID:17576681|PMID:23543484|PMID:23667635|PMID:25741868|PMID:28492532|PMID:30567601|PMID:31071488|PMID:31217819|PMID:31674007|PMID:31953240|PMID:9536098 11777640 TNPO3 transportin 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11777640 TNPO3 transportin 3 gene DOID:630 genetic disease ISO RGD:1318997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11777673 BLK BLK proto-oncogene, Src family tyrosine kinase gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:1318874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young 11777673 BLK BLK proto-oncogene, Src family tyrosine kinase gene DOID:0111109 maturity-onset diabetes of the young type 11 ISO RGD:1318874 D RGD:7240710 20180130 OMIM 11777673 BLK BLK proto-oncogene, Src family tyrosine kinase gene DOID:0111109 maturity-onset diabetes of the young type 11 ISO RGD:1318874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 11 PMID:18204098|PMID:18414213|PMID:19667185|PMID:24023612|PMID:24033266|PMID:25741868|PMID:27634015|PMID:27913849|PMID:28095440|PMID:28492532|PMID:31101814|PMID:31670388|PMID:31683055|PMID:32313195|PMID:33116287 11777673 BLK BLK proto-oncogene, Src family tyrosine kinase gene DOID:13378 Kawasaki disease ISO RGD:1318874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446961 11777673 BLK BLK proto-oncogene, Src family tyrosine kinase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1318874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm PMID:32748548 11777673 BLK BLK proto-oncogene, Src family tyrosine kinase gene DOID:630 genetic disease ISO RGD:1318874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11777673 BLK BLK proto-oncogene, Src family tyrosine kinase gene DOID:7148 rheumatoid arthritis ISO RGD:1318874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 11777673 BLK BLK proto-oncogene, Src family tyrosine kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11777673 BLK BLK proto-oncogene, Src family tyrosine kinase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1308859 D RGD:9068941 20200609 RGD mRNA:increased expression:left ventricle (rat) PMID:17562528|REF_RGD_ID:1642307 11777673 BLK BLK proto-oncogene, Src family tyrosine kinase gene DOID:9074 systemic lupus erythematosus ISO RGD:1318874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus PMID:18204098|PMID:19667185|PMID:24023612|PMID:25741868|PMID:28492532|PMID:29663334|PMID:30191644|PMID:31101814|PMID:31670388|PMID:31683055|PMID:32313195 11777673 BLK BLK proto-oncogene, Src family tyrosine kinase gene DOID:9351 diabetes mellitus ISO RGD:1318874 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:18204098|PMID:18414213|PMID:19667185|PMID:24023612|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31670388|PMID:32313195 11777674 NEMP1 nuclear envelope integral membrane protein 1 gene DOID:630 genetic disease ISO RGD:1603697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11777691 KLHL14 kelch like family member 14 gene DOID:1059 intellectual disability ISO RGD:1321388 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11777691 KLHL14 kelch like family member 14 gene DOID:630 genetic disease ISO RGD:1321388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11777704 SH2D1A SH2 domain containing 1A gene DOID:0060704 lymphoproliferative syndrome ISO RGD:1346207 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Duncan disease | ClinVar Annotator: match by term: Lymphoproliferative disorder | ClinVar Annotator: match by term: X-linked lymphoproliferative syndrome PMID:10549287|PMID:10556288|PMID:10598819|PMID:10691868|PMID:10694488|PMID:10898506|PMID:10934222|PMID:11034354|PMID:11049992|PMID:11133747|PMID:11159547|PMID:11414741|PMID:11477068|PMID:11493483|PMID:11520777|PMID:11678908|PMID:12224001|PMID:12356686|PMID:14583885|PMID:15359110|PMID:15632210|PMID:15661030|PMID:15711562|PMID:15908972|PMID:15992610|PMID:16199547|PMID:16720617|PMID:17576681|PMID:18055393|PMID:19621458|PMID:19937601|PMID:20632414|PMID:20660790|PMID:21119115|PMID:21707584|PMID:21815800|PMID:22433061|PMID:22493517|PMID:22970278|PMID:23143765|PMID:23280491|PMID:23829589|PMID:24616127|PMID:24723092|PMID:24923536|PMID:24985396|PMID:25741868|PMID:26305518|PMID:27209435|PMID:28492532|PMID:28816794|PMID:29604111|PMID:29709555|PMID:30572125|PMID:31415280|PMID:32150605|PMID:32542393|PMID:32888943|PMID:33329693|PMID:3658675|PMID:9536098|PMID:9771704|PMID:9811875 11777704 SH2D1A SH2 domain containing 1A gene DOID:0060705 X-linked lymphoproliferative syndrome 1 ISO RGD:1346207 D RGD:7240710 20200619 OMIM 11777704 SH2D1A SH2 domain containing 1A gene DOID:0060705 X-linked lymphoproliferative syndrome 1 ISO RGD:1346207 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked PMID:10549287|PMID:10556288|PMID:10598819|PMID:10691868|PMID:10694488|PMID:10898506|PMID:10934222|PMID:11034354|PMID:11049992|PMID:11133747|PMID:11159547|PMID:11414741|PMID:11477068|PMID:11493483|PMID:11520777|PMID:11678908|PMID:12224001|PMID:12356686|PMID:14583885|PMID:15359110|PMID:15632210|PMID:15661030|PMID:15711562|PMID:15908972|PMID:15992610|PMID:16199547|PMID:16720617|PMID:17576681|PMID:18055393|PMID:19621458|PMID:19937601|PMID:20632414|PMID:20660790|PMID:21119115|PMID:21707584|PMID:21815800|PMID:22493517|PMID:22970278|PMID:23280491|PMID:23829589|PMID:24616127|PMID:24723092|PMID:24923536|PMID:24985396|PMID:25741868|PMID:27209435|PMID:28492532|PMID:28816794|PMID:29604111|PMID:29709555|PMID:30572125|PMID:31415280|PMID:32150605|PMID:32542393|PMID:32888943|PMID:33329693|PMID:3658675|PMID:9536098|PMID:9771704|PMID:9811875 11777704 SH2D1A SH2 domain containing 1A gene DOID:0060706 X-linked lymphoproliferative syndrome 2 ISO RGD:1346207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked PMID:17080092|PMID:17989220|PMID:21119115|PMID:25666262|PMID:26581487|PMID:28492532 11777704 SH2D1A SH2 domain containing 1A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11777704 SH2D1A SH2 domain containing 1A gene DOID:0111845 Mullegama-Klein-Martinez syndrome ISO RGD:1346207 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER, X-LINKED, WITH CRANIOFACIAL ABNORMALITIES PMID:25741868|PMID:28492532 11777704 SH2D1A SH2 domain containing 1A gene DOID:12849 autistic disorder ISO RGD:1346207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11777704 SH2D1A SH2 domain containing 1A gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1346207 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:11049992|PMID:15711562|PMID:22970278|PMID:25741868|PMID:28492532|PMID:31415280|PMID:9771704 11777704 SH2D1A SH2 domain containing 1A gene DOID:630 genetic disease ISO RGD:1346207 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11777704 SH2D1A SH2 domain containing 1A gene DOID:9003937 X Chromosome, Trisomy Xq25 ISO RGD:1346207 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Xq25 duplication syndrome 11777704 SH2D1A SH2 domain containing 1A gene DOID:9008492 Holoprosencephaly 13 ISO RGD:1346207 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 13, X-linked PMID:25741868|PMID:28492532 11777716 DCP2 decapping mRNA 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349747 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:11257105|PMID:14672538|PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11777716 DCP2 decapping mRNA 2 gene DOID:630 genetic disease ISO RGD:1349747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11777716 DCP2 decapping mRNA 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11777716 DCP2 decapping mRNA 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 11777716 DCP2 decapping mRNA 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349747 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11777734 ASAH1 N-acylsphingosine amidohydrolase 1 gene DOID:0050464 Farber lipogranulomatosis ISO RGD:734135 D RGD:7240710 20180130 OMIM 11777734 ASAH1 N-acylsphingosine amidohydrolase 1 gene DOID:0050464 Farber lipogranulomatosis ISO RGD:734135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar Annotator: match by term: Farber's lipogranulomatosis | ClinVar Annotator: match by term: N-Laurylsphingosine deacylase deficiency PMID:10610716|PMID:11241842|PMID:12638942|PMID:16199547|PMID:16951918|PMID:17576681|PMID:20560208|PMID:21893389|PMID:22565078|PMID:23681708|PMID:23707712|PMID:24033266|PMID:24164096|PMID:24355074|PMID:24614645|PMID:25741868|PMID:26075876|PMID:26467025|PMID:26945816|PMID:27411168|PMID:28251733|PMID:28492532|PMID:28733637|PMID:29140481|PMID:29358611|PMID:29379059|PMID:29692406|PMID:3037247|PMID:30525581|PMID:30815900|PMID:31680123|PMID:32449975|PMID:32627310|PMID:32706452|PMID:32875576|PMID:34240417|PMID:8955159|PMID:9128814|PMID:9536098 11777734 ASAH1 N-acylsphingosine amidohydrolase 1 gene DOID:0060224 atrial fibrillation ISO RGD:734135 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11777734 ASAH1 N-acylsphingosine amidohydrolase 1 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:734135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 11777734 ASAH1 N-acylsphingosine amidohydrolase 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:734135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:28492532|PMID:31680123 11777734 ASAH1 N-acylsphingosine amidohydrolase 1 gene DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy ISO RGD:734135 D RGD:7240710 20180130 OMIM 11777734 ASAH1 N-acylsphingosine amidohydrolase 1 gene DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy ISO RGD:734135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy | ClinVar Annotator: match by term: MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY PMID:16199547|PMID:22703880|PMID:24033266|PMID:24164096|PMID:24355074|PMID:25326635|PMID:25578555|PMID:25741868|PMID:25847462|PMID:26467025|PMID:26526000|PMID:27026573|PMID:27723502|PMID:28251733|PMID:28492532|PMID:28733637|PMID:29169047|PMID:29358611|PMID:30291339|PMID:32449975|PMID:34240417 11777734 ASAH1 N-acylsphingosine amidohydrolase 1 gene DOID:10316 pneumoconiosis ISO RGD:734135 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 11777734 ASAH1 N-acylsphingosine amidohydrolase 1 gene DOID:1927 sphingolipidosis susceptibility ISO RGD:734135 D RGD:9068941 20200609 RGD PMID:11241842|REF_RGD_ID:734977 11777734 ASAH1 N-acylsphingosine amidohydrolase 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:734135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:26075876|PMID:26467025|PMID:28492532|PMID:29140481|PMID:29358611|PMID:29692406 11777734 ASAH1 N-acylsphingosine amidohydrolase 1 gene DOID:630 genetic disease ISO RGD:734135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22565078|PMID:24355074|PMID:25741868|PMID:26075876|PMID:26467025|PMID:28492532|PMID:29140481|PMID:29358611|PMID:29692406|PMID:3037247|PMID:30525581 11777734 ASAH1 N-acylsphingosine amidohydrolase 1 gene DOID:9000058 Keloid ISO RGD:734135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keloid formation PMID:28492532|PMID:28905881 11777734 ASAH1 N-acylsphingosine amidohydrolase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734135 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11777734 ASAH1 N-acylsphingosine amidohydrolase 1 gene DOID:9006534 Nervous System Malformations ISO RGD:734135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11777734 ASAH1 N-acylsphingosine amidohydrolase 1 gene DOID:9455 lipid storage disease ISO RGD:734135 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414 11777761 C3H3orf22 chromosome 3 C3orf22 homolog gene DOID:630 genetic disease ISO RGD:1603560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11777761 C3H3orf22 chromosome 3 C3orf22 homolog gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1603560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 11777761 C3H3orf22 chromosome 3 C3orf22 homolog gene DOID:9270 alkaptonuria ISO RGD:1603560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11777779 EWSR1 EWS RNA binding protein 1 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1316345 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 11777779 EWSR1 EWS RNA binding protein 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1316345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 11777779 EWSR1 EWS RNA binding protein 1 gene DOID:3369 Ewing sarcoma ISO RGD:1316345 D RGD:7240710 20180130 OMIM 11777779 EWSR1 EWS RNA binding protein 1 gene DOID:3369 Ewing sarcoma ISO RGD:1316345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ewing sarcoma PMID:25741868|PMID:28492532 11777779 EWSR1 EWS RNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1316345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11777779 EWSR1 EWS RNA binding protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27783944 11777779 EWSR1 EWS RNA binding protein 1 gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:1316345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12162413 11777779 EWSR1 EWS RNA binding protein 1 gene DOID:9008192 Neoplastic Processes ISO RGD:1316345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27783944 11777779 EWSR1 EWS RNA binding protein 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1316345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 11777830 CERS3 ceramide synthase 3 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1319080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 11777830 CERS3 ceramide synthase 3 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1319080 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lamellar ichthyosis PMID:28875980|PMID:30578701|PMID:33492757 11777830 CERS3 ceramide synthase 3 gene DOID:0060718 autosomal recessive congenital ichthyosis 9 ISO RGD:1319080 D RGD:7240710 20180130 OMIM 11777830 CERS3 ceramide synthase 3 gene DOID:0060718 autosomal recessive congenital ichthyosis 9 ISO RGD:1319080 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 9 PMID:23549421|PMID:23754960|PMID:25741868|PMID:28492532 11777830 CERS3 ceramide synthase 3 gene DOID:10283 prostate cancer ISO RGD:1319080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11777830 CERS3 ceramide synthase 3 gene DOID:630 genetic disease ISO RGD:1319080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11777830 CERS3 ceramide synthase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11777859 SERF2 small EDRK-rich factor 2 gene DOID:2717 Bloom syndrome ISO RGD:1344606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11777859 SERF2 small EDRK-rich factor 2 gene DOID:630 genetic disease ISO RGD:1344606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11777859 SERF2 small EDRK-rich factor 2 gene DOID:9256 colorectal cancer ISO RGD:1344606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11777876 LOC106634220 keratin-associated protein 12-4 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1347376 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 11777876 LOC106634220 keratin-associated protein 12-4 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1347376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11777876 LOC106634220 keratin-associated protein 12-4 gene DOID:0110266 cataract 9 multiple types ISO RGD:1347376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11777876 LOC106634220 keratin-associated protein 12-4 gene DOID:12849 autistic disorder ISO RGD:1347376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11777876 LOC106634220 keratin-associated protein 12-4 gene DOID:630 genetic disease ISO RGD:1347376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11777876 LOC106634220 keratin-associated protein 12-4 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1347376 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11777876 LOC106634220 keratin-associated protein 12-4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11777876 LOC106634220 keratin-associated protein 12-4 gene DOID:9263 homocystinuria ISO RGD:1347376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11777876 LOC106634220 keratin-associated protein 12-4 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1347376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11777880 GIMAP4 GTPase, IMAP family member 4 gene DOID:0080600 COVID-19 ISO RGD:1351937 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 11777880 GIMAP4 GTPase, IMAP family member 4 gene DOID:2843 long QT syndrome ISO RGD:1351937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 11777880 GIMAP4 GTPase, IMAP family member 4 gene DOID:630 genetic disease ISO RGD:1351937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11777887 CERCAM cerebral endothelial cell adhesion molecule gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312417 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11777887 CERCAM cerebral endothelial cell adhesion molecule gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1312417 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11777887 CERCAM cerebral endothelial cell adhesion molecule gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312417 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11777887 CERCAM cerebral endothelial cell adhesion molecule gene DOID:630 genetic disease ISO RGD:1312417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11777912 RFX8 regulatory factor X8 gene DOID:630 genetic disease ISO RGD:2793201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11777933 NUP214 nucleoporin 214 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316779 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11777933 NUP214 nucleoporin 214 gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1316779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 11777933 NUP214 nucleoporin 214 gene DOID:10907 microcephaly ISO RGD:1316779 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Progressive microcephaly PMID:25741868|PMID:31178128 11777933 NUP214 nucleoporin 214 gene DOID:630 genetic disease ISO RGD:1316779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11777933 NUP214 nucleoporin 214 gene DOID:9001487 Facies ISO RGD:1316779 D RGD:8554872 20221018 ClinVar ClinVar Annotator: match by term: facial dysmorphism 11777933 NUP214 nucleoporin 214 gene DOID:9002011 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9 ISO RGD:1316779 D RGD:7240710 20230505 OMIM 11777933 NUP214 nucleoporin 214 gene DOID:9002011 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9 ISO RGD:1316779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 9 PMID:25741868|PMID:30758658|PMID:31178128 11777933 NUP214 nucleoporin 214 gene DOID:9006257 Growth Disorders ISO RGD:1316779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth Retardation 11777933 NUP214 nucleoporin 214 gene DOID:9008086 Developmental Disabilities ISO RGD:1316779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay 11777933 NUP214 nucleoporin 214 gene DOID:9008582 Developmental Disease ISO RGD:1316779 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11777933 NUP214 nucleoporin 214 gene DOID:9119 acute myeloid leukemia ISO RGD:1316779 D RGD:7240710 20180130 OMIM 11777933 NUP214 nucleoporin 214 gene DOID:936 brain disease ISO RGD:1316779 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 11777933 NUP214 nucleoporin 214 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1316779 D RGD:7240710 20230505 OMIM 11777981 ELANE elastase, neutrophil expressed gene DOID:0050073 invasive aspergillosis ISO RGD:1624045 D RGD:9068941 20200609 RGD PMID:24054721|REF_RGD_ID:10450528 11777981 ELANE elastase, neutrophil expressed gene DOID:0050590 severe congenital neutropenia ISO RGD:1317469 D RGD:9068941 20200609 RGD PMID:10581030|REF_RGD_ID:1598891 11777981 ELANE elastase, neutrophil expressed gene DOID:0050590 severe congenital neutropenia ISO RGD:1317469 D RGD:9068941 20200609 RGD DNA:mutation:intron:c.597+1G>A (human) PMID:24616599|REF_RGD_ID:10450514 11777981 ELANE elastase, neutrophil expressed gene DOID:0050590 severe congenital neutropenia ISO RGD:1317469 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:21425445|REF_RGD_ID:10450519 11777981 ELANE elastase, neutrophil expressed gene DOID:0050590 severe congenital neutropenia ISO RGD:1317469 D RGD:9068941 20200609 RGD mRNA:decreased expression:myeloid CD33+ cell: PMID:19620402|REF_RGD_ID:10450525 11777981 ELANE elastase, neutrophil expressed gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1317469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 11777981 ELANE elastase, neutrophil expressed gene DOID:0080178 mucositis ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:9823937|REF_RGD_ID:10450554 11777981 ELANE elastase, neutrophil expressed gene DOID:0080600 COVID-19 ISO RGD:1317469 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 11777981 ELANE elastase, neutrophil expressed gene DOID:0080625 severe congenital neutropenia 1 ISO RGD:1317469 D RGD:7240710 20180130 OMIM 11777981 ELANE elastase, neutrophil expressed gene DOID:0080625 severe congenital neutropenia 1 ISO RGD:1317469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant PMID:10581030|PMID:11001877|PMID:11675333|PMID:14962902|PMID:15657182|PMID:16079102|PMID:16551967|PMID:16737875|PMID:17053055|PMID:17576681|PMID:18028488|PMID:18611981|PMID:19036076|PMID:20049848|PMID:20301705|PMID:20582973|PMID:21425445|PMID:22148006|PMID:22758217|PMID:23463630|PMID:24523240|PMID:24616599|PMID:25427142|PMID:25741868|PMID:26567890|PMID:28073911|PMID:28492532|PMID:30040071|PMID:30273710|PMID:30386760|PMID:30635825|PMID:31248972|PMID:31321910|PMID:3229910|PMID:32581362|PMID:33318085|PMID:9536098 11777981 ELANE elastase, neutrophil expressed gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1317469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:24033266 11777981 ELANE elastase, neutrophil expressed gene DOID:10247 pleurisy ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:20860667|REF_RGD_ID:10450565 11777981 ELANE elastase, neutrophil expressed gene DOID:11247 disseminated intravascular coagulation ISO RGD:1317469 D RGD:9068941 20200609 RGD associated with Multiple Organ Failure, Craniocerebral Trauma;protein:increased expression:plasma: PMID:10912863|REF_RGD_ID:10450545 11777981 ELANE elastase, neutrophil expressed gene DOID:11247 disseminated intravascular coagulation ISO RGD:1317469 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:20655560|REF_RGD_ID:10450544 11777981 ELANE elastase, neutrophil expressed gene DOID:1227 neutropenia ISO RGD:1317469 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:10581030|PMID:17576681|PMID:20049848|PMID:23463630|PMID:25741868|PMID:28492532|PMID:30040071|PMID:32581362|PMID:9536098 11777981 ELANE elastase, neutrophil expressed gene DOID:14115 toxic shock syndrome treatment ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:18323746|REF_RGD_ID:10450579 11777981 ELANE elastase, neutrophil expressed gene DOID:2224 essential thrombocythemia ISO RGD:1317469 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:18768782|REF_RGD_ID:10450556 11777981 ELANE elastase, neutrophil expressed gene DOID:224 transient cerebral ischemia treatment ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:19168036|REF_RGD_ID:10450558 11777981 ELANE elastase, neutrophil expressed gene DOID:2562 suppurative periapical periodontitis ISO RGD:1307968 D RGD:9068941 20200609 RGD protein:increased expression:neutrophil: PMID:19913217|REF_RGD_ID:10450566 11777981 ELANE elastase, neutrophil expressed gene DOID:2921 glomerulonephritis ISO RGD:1624045 D RGD:9068941 20200609 RGD PMID:19752320|REF_RGD_ID:6907051 11777981 ELANE elastase, neutrophil expressed gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1317469 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10581030|PMID:11675333|PMID:19036076|PMID:23463630|PMID:25703294|PMID:25741868|PMID:27854218|PMID:28492532 11777981 ELANE elastase, neutrophil expressed gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1317469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10581030|PMID:11675333|PMID:19036076|PMID:23463630|PMID:25427142|PMID:25703294|PMID:25741868|PMID:28492532 11777981 ELANE elastase, neutrophil expressed gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1317469 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10581030|PMID:11675333|PMID:19036076|PMID:23463630|PMID:25427142|PMID:25703294|PMID:25741868|PMID:27854218|PMID:28492532 11777981 ELANE elastase, neutrophil expressed gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:10700596|REF_RGD_ID:10450546 11777981 ELANE elastase, neutrophil expressed gene DOID:3770 pulmonary fibrosis ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:19995276|REF_RGD_ID:10450562 11777981 ELANE elastase, neutrophil expressed gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1317469 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 11777981 ELANE elastase, neutrophil expressed gene DOID:5339 cyclic hematopoiesis ISO RGD:1317469 D RGD:7240710 20180130 OMIM 11777981 ELANE elastase, neutrophil expressed gene DOID:5339 cyclic hematopoiesis ISO RGD:1317469 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:10581030|PMID:11001877|PMID:11675333|PMID:14962902|PMID:15657182|PMID:16079102|PMID:16199547|PMID:16551967|PMID:16737875|PMID:16986121|PMID:17436313|PMID:17576681|PMID:18028488|PMID:18611981|PMID:18703682|PMID:19036076|PMID:19415009|PMID:19775295|PMID:20049848|PMID:20582973|PMID:20803142|PMID:21425445|PMID:21618407|PMID:22148006|PMID:22510773|PMID:22624626|PMID:22758217|PMID:23382209|PMID:23463630|PMID:24184683|PMID:24523240|PMID:24616599|PMID:25162927|PMID:25427142|PMID:25703294|PMID:25705433|PMID:25741868|PMID:25912133|PMID:26567890|PMID:28073911|PMID:28492532|PMID:29076228|PMID:29517659|PMID:30040071|PMID:30171085|PMID:30273710|PMID:30386760|PMID:30635825|PMID:31009763|PMID:31176364|PMID:31248972|PMID:31321910|PMID:31574885|PMID:31965297|PMID:3229910|PMID:32581362|PMID:33179225|PMID:33225392|PMID:34340247|PMID:9536098 11777981 ELANE elastase, neutrophil expressed gene DOID:630 genetic disease ISO RGD:1317469 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11777981 ELANE elastase, neutrophil expressed gene DOID:7427 anthrax disease ISO RGD:1624045 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:19049643|REF_RGD_ID:10450550 11777981 ELANE elastase, neutrophil expressed gene DOID:824 periodontitis susceptibility ISO RGD:1317469 D RGD:9068941 20200609 RGD associated with Severe Congenital Neutropenia;DNA:mutations: : PMID:21796505|REF_RGD_ID:10450515 11777981 ELANE elastase, neutrophil expressed gene DOID:8997 polycythemia vera ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:12186827|REF_RGD_ID:10450557 11777981 ELANE elastase, neutrophil expressed gene DOID:8997 polycythemia vera ISO RGD:1317469 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:18768782|REF_RGD_ID:10450556 11777981 ELANE elastase, neutrophil expressed gene DOID:9000197 Edema treatment ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:20860667|REF_RGD_ID:10450565 11777981 ELANE elastase, neutrophil expressed gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:1624045 D RGD:9068941 20200609 RGD PMID:18276796|REF_RGD_ID:10450549 11777981 ELANE elastase, neutrophil expressed gene DOID:9001553 Spinal Cord Compression treatment ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:9675307|REF_RGD_ID:10450552 11777981 ELANE elastase, neutrophil expressed gene DOID:9002159 Liver Reperfusion Injury ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:10588515|REF_RGD_ID:10450560 11777981 ELANE elastase, neutrophil expressed gene DOID:9003202 Pulmonary Hemorrhage ISO RGD:1307968 D RGD:9068941 20200609 RGD associated with Pancreatitis, Experimental, sepsis; PMID:7587785|REF_RGD_ID:10450559 11777981 ELANE elastase, neutrophil expressed gene DOID:9004237 Hyperoxic Lung Injury treatment ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:11104832|REF_RGD_ID:10450581 11777981 ELANE elastase, neutrophil expressed gene DOID:9004347 Skeletal Muscle Reperfusion Injury ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:7858993|REF_RGD_ID:10450555 11777981 ELANE elastase, neutrophil expressed gene DOID:9004484 Sepsis ISO RGD:1624045 D RGD:9068941 20200609 RGD associated with Klebsiella Infections; PMID:9585238|REF_RGD_ID:10450543 11777981 ELANE elastase, neutrophil expressed gene DOID:9004610 Acute Lung Injury ISO RGD:1307968 D RGD:9068941 20200609 RGD protein:increased expression:perfusate: PMID:18283562|REF_RGD_ID:10450585 11777981 ELANE elastase, neutrophil expressed gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:15257085|REF_RGD_ID:10450548 11777981 ELANE elastase, neutrophil expressed gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1307968 D RGD:9068941 20200609 RGD associated with Shock, Hemorrhagic; PMID:17203197|REF_RGD_ID:10450587 11777981 ELANE elastase, neutrophil expressed gene DOID:9005932 Urinary Bladder Reperfusion Injury treatment ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:18165924|REF_RGD_ID:10450583 11777981 ELANE elastase, neutrophil expressed gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:16980042|REF_RGD_ID:10450580 11777981 ELANE elastase, neutrophil expressed gene DOID:9006263 Experimental Pancreatitis treatment ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:18486906|REF_RGD_ID:10450567 11777981 ELANE elastase, neutrophil expressed gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:17888675|REF_RGD_ID:10450582 11777981 ELANE elastase, neutrophil expressed gene DOID:9675 pulmonary emphysema ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:12186827|REF_RGD_ID:10450557 11777988 LRRC40 leucine rich repeat containing 40 gene DOID:1059 intellectual disability ISO RGD:1601993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11777988 LRRC40 leucine rich repeat containing 40 gene DOID:630 genetic disease ISO RGD:1601993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778007 LRG1 leucine rich alpha-2-glycoprotein 1 gene DOID:0050424 familial adenomatous polyposis ISO RGD:1349039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25200834 11778007 LRG1 leucine rich alpha-2-glycoprotein 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1349039 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 11778007 LRG1 leucine rich alpha-2-glycoprotein 1 gene DOID:13938 amenorrhea ISO RGD:1349039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11778007 LRG1 leucine rich alpha-2-glycoprotein 1 gene DOID:3021 acute kidney failure ISO RGD:1349039 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34677723 11778007 LRG1 leucine rich alpha-2-glycoprotein 1 gene DOID:630 genetic disease ISO RGD:1349039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778007 LRG1 leucine rich alpha-2-glycoprotein 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1349039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25200834 11778007 LRG1 leucine rich alpha-2-glycoprotein 1 gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1349039 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 11778013 SORCS3 sortilin related VPS10 domain containing receptor 3 gene DOID:630 genetic disease ISO RGD:1322178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778046 PLEKHH1 pleckstrin homology, MyTH4 and FERM domain containing H1 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1318086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 11778046 PLEKHH1 pleckstrin homology, MyTH4 and FERM domain containing H1 gene DOID:630 genetic disease ISO RGD:1318086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778046 PLEKHH1 pleckstrin homology, MyTH4 and FERM domain containing H1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11778093 ENPP3 ectonucleotide pyrophosphatase/phosphodiesterase 3 gene DOID:0080600 COVID-19 ISO RGD:1344691 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11778093 ENPP3 ectonucleotide pyrophosphatase/phosphodiesterase 3 gene DOID:630 genetic disease ISO RGD:1344691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778093 ENPP3 ectonucleotide pyrophosphatase/phosphodiesterase 3 gene DOID:9006958 Generalized Arterial Calcification of Infancy, 1 ISO RGD:1344691 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 11778093 ENPP3 ectonucleotide pyrophosphatase/phosphodiesterase 3 gene DOID:9278 hyperargininemia ISO RGD:1344691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginase deficiency PMID:28492532 11778143 BTLA B and T lymphocyte associated gene DOID:630 genetic disease ISO RGD:1350737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778154 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:1316368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lennox-Gastaut syndrome PMID:28492532 11778154 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:0050827 rheumatic heart disease ISO RGD:1307272 D RGD:9068941 20230202 RGD mRNA, protein:increases expression:mitral valve, heart (rat) PMID:33179113|REF_RGD_ID:155882558 11778154 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1316368 D RGD:7240710 20180130 OMIM 11778154 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1316368 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome PMID:11279515|PMID:11448942|PMID:11592033|PMID:11595972|PMID:11891681|PMID:12784289|PMID:12920073|PMID:15121779|PMID:15908750|PMID:16053902|PMID:16088920|PMID:16199547|PMID:16532472|PMID:16688751|PMID:17203459|PMID:17576681|PMID:17932455|PMID:17958891|PMID:18182442|PMID:18414213|PMID:19006215|PMID:19215041|PMID:19842203|PMID:2030158|PMID:20428734|PMID:23243526|PMID:23418865|PMID:23466526|PMID:23523603|PMID:24092421|PMID:24401652|PMID:24715670|PMID:25123255|PMID:25326635|PMID:25326637|PMID:25608121|PMID:25741868|PMID:25899569|PMID:25931334|PMID:26467025|PMID:26633542|PMID:26661037|PMID:26809768|PMID:26993267|PMID:27831545|PMID:28166811|PMID:28492532|PMID:28501473|PMID:28708303|PMID:29089047|PMID:29159939|PMID:29263819|PMID:29300384|PMID:30315573|PMID:31130284|PMID:31376723|PMID:32860008|PMID:34298581|PMID:9536098|PMID:9719364 11778154 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1316368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:27799067 11778154 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1316368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:21981781|PMID:23632792 11778154 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1316368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 11778154 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1316368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 11778154 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:1059 intellectual disability ISO RGD:1316368 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:16053902|PMID:17958891|PMID:18414213|PMID:19215041|PMID:24401652|PMID:24715670|PMID:25741868|PMID:25899569|PMID:26809768|PMID:28492532 11778154 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:1324 lung cancer ISO RGD:1316368 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 11778154 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:1682 congenital heart disease ISO RGD:1316368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17478475 11778154 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:2786 cerebellar disease ISO RGD:1316368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29326173 11778154 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1316368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 11778154 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:5602 T-cell adult acute lymphocytic leukemia ISO RGD:1316369 D RGD:9068941 20220825 MouseDO 11778154 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:576 proteinuria ISO RGD:1307272 D RGD:9068941 20230128 RGD mRNA:increased expression:glomerular podocytes (rat) PMID:31784544|REF_RGD_ID:155882534 11778154 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:5844 myocardial infarction ISO RGD:1307272 D RGD:9068941 20230128 RGD protein:increased expression:heart (rat) PMID:24155330|REF_RGD_ID:155882536 11778154 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:630 genetic disease ISO RGD:1316368 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11448942|PMID:12784289|PMID:15121779|PMID:16053902|PMID:17203459|PMID:17958891|PMID:18414213|PMID:19215041|PMID:19842203|PMID:20428734|PMID:23243526|PMID:23322667|PMID:23466526|PMID:23523603|PMID:24401652|PMID:24715670|PMID:25123255|PMID:25608121|PMID:25741868|PMID:25899569|PMID:25931334|PMID:26467025|PMID:26661037|PMID:26809768|PMID:27831545|PMID:28492532|PMID:29089047|PMID:29300384|PMID:31376723|PMID:9719364 11778154 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:9000918 Disease Progression ISO RGD:1316368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19839049 11778154 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11778154 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:9002320 Neurobehavioral Manifestations treatment ISO RGD:1307272 D RGD:9068941 20230128 RGD PMID:34334113|REF_RGD_ID:155882538 11778154 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:9003292 Intracranial Subdural Hematoma ISO RGD:1307272 D RGD:9068941 20230128 RGD protein:increased expression:brain (rat) PMID:34334113|REF_RGD_ID:155882538 11778154 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:9003292 Intracranial Subdural Hematoma treatment ISO RGD:1307272 D RGD:9068941 20230128 RGD PMID:34334113|REF_RGD_ID:155882538 11778154 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1307272 D RGD:9068941 20230128 RGD mRNA:increased expression:glomerular podocytes (rat) PMID:31784544|REF_RGD_ID:155882534 11778154 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1307272 D RGD:9068941 20230202 RGD PMID:34852714|REF_RGD_ID:155882542 11778154 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11778154 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1316368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21954225 11778154 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:9004797 Fetal Nutrition Disorders ISO RGD:1307272 D RGD:9068941 20230202 RGD associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) PMID:23977013|REF_RGD_ID:155882570 11778154 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1316368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11778154 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1316368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11778154 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:9007402 Gliosis ISO RGD:1307272 D RGD:9068941 20230202 RGD PMID:34852714|REF_RGD_ID:155882542 11778154 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1316368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21954225 11778154 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:9008297 Motor Disorders ISO RGD:1316368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29326173 11778154 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1316368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19839049 11778193 KPLCE KPRP N-terminal and LCE C-terminal like protein gene DOID:0111940 immunodeficiency 42 ISO RGD:1602382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11778193 KPLCE KPRP N-terminal and LCE C-terminal like protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1602382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11778193 KPLCE KPRP N-terminal and LCE C-terminal like protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1602382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11778193 KPLCE KPRP N-terminal and LCE C-terminal like protein gene DOID:1540 parathyroid carcinoma ISO RGD:1602382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11778193 KPLCE KPRP N-terminal and LCE C-terminal like protein gene DOID:5812 MHC class II deficiency ISO RGD:1602382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11778193 KPLCE KPRP N-terminal and LCE C-terminal like protein gene DOID:630 genetic disease ISO RGD:1602382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778193 KPLCE KPRP N-terminal and LCE C-terminal like protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11778197 ROCK1 Rho associated coiled-coil containing protein kinase 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:733751 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32417439 11778197 ROCK1 Rho associated coiled-coil containing protein kinase 1 gene DOID:1059 intellectual disability ISO RGD:733751 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11778197 ROCK1 Rho associated coiled-coil containing protein kinase 1 gene DOID:3905 lung carcinoma ISO RGD:733751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:20140017 11778197 ROCK1 Rho associated coiled-coil containing protein kinase 1 gene DOID:630 genetic disease ISO RGD:733751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778197 ROCK1 Rho associated coiled-coil containing protein kinase 1 gene DOID:9000457 Germ Cell and Embryonal Neoplasms disease_progression ISO RGD:733751 D RGD:9068941 20200609 RGD mRNA:increased expression:testis PMID:11872041|REF_RGD_ID:2298875 11778197 ROCK1 Rho associated coiled-coil containing protein kinase 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:620424 D RGD:9068941 20200609 RGD PMID:17316608|REF_RGD_ID:1642807 11778197 ROCK1 Rho associated coiled-coil containing protein kinase 1 gene DOID:9007023 Prenatal Injuries ISO RGD:733751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18956198 11778197 ROCK1 Rho associated coiled-coil containing protein kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:733751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:20140017 11778242 PRICKLE2 prickle planar cell polarity protein 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1315504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11778242 PRICKLE2 prickle planar cell polarity protein 2 gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:1315504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5 | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:17576681|PMID:21276947|PMID:23711981|PMID:24088041|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26942291|PMID:26942292|PMID:28166811|PMID:28492532|PMID:29358611|PMID:9536098 11778242 PRICKLE2 prickle planar cell polarity protein 2 gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:1315504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5 | ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:17576681|PMID:21276947|PMID:23711981|PMID:24088041|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26942291|PMID:26942292|PMID:28492532|PMID:29358611|PMID:9536098 11778242 PRICKLE2 prickle planar cell polarity protein 2 gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:1315504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:21276947|PMID:25326635|PMID:25741868|PMID:26942291|PMID:26942292 11778242 PRICKLE2 prickle planar cell polarity protein 2 gene DOID:1826 epilepsy ISO RGD:1315504 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11778242 PRICKLE2 prickle planar cell polarity protein 2 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1315504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:28492532|PMID:29358611 11778242 PRICKLE2 prickle planar cell polarity protein 2 gene DOID:630 genetic disease ISO RGD:1315504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 11778242 PRICKLE2 prickle planar cell polarity protein 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1315504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:21276947|PMID:23711981|PMID:25741868|PMID:26467025|PMID:26942291|PMID:26942292|PMID:28492532|PMID:29358611 11778242 PRICKLE2 prickle planar cell polarity protein 2 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1315504 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myoclonus epilepsy | ClinVar Annotator: match by term: myoclonic epilepsy PMID:28492532|PMID:29358611 11778242 PRICKLE2 prickle planar cell polarity protein 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1315504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11778242 PRICKLE2 prickle planar cell polarity protein 2 gene DOID:9008631 progressive myoclonus epilepsy 5 ISO RGD:1315504 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5 PMID:17576681|PMID:21276947|PMID:23711981|PMID:24088041|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26942291|PMID:26942292|PMID:28492532|PMID:29358611|PMID:9536098 11778264 SELP selectin P gene DOID:0060180 colitis ISO RGD:3656 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:19147805|REF_RGD_ID:2312310 11778264 SELP selectin P gene DOID:0060903 thrombosis ISO RGD:737162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10544909 11778264 SELP selectin P gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:3656 D RGD:9068941 20200609 RGD PMID:19451746|REF_RGD_ID:2312307 11778264 SELP selectin P gene DOID:0112313 brain small vessel disease ISO RGD:737162 D RGD:9068941 20200609 RGD protein:increased expression:platelet PMID:20885295|REF_RGD_ID:6296592 11778264 SELP selectin P gene DOID:10247 pleurisy ISO RGD:734150 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:21147071|REF_RGD_ID:6219005 11778264 SELP selectin P gene DOID:10247 pleurisy ISO RGD:737162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181422 11778264 SELP selectin P gene DOID:10652 Alzheimer's disease severity ISO RGD:737162 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:21484243|REF_RGD_ID:5685677 11778264 SELP selectin P gene DOID:10763 hypertension ISO RGD:737162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15513305 11778264 SELP selectin P gene DOID:10923 sickle cell anemia ISO RGD:734150 D RGD:9068941 20200609 RGD PMID:21071696|REF_RGD_ID:6219007 11778264 SELP selectin P gene DOID:1205 allergic disease ISO RGD:737162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12929084 11778264 SELP selectin P gene DOID:12894 Sjogren's syndrome ISO RGD:737162 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19832990|REF_RGD_ID:6478702 11778264 SELP selectin P gene DOID:13378 Kawasaki disease ISO RGD:737162 D RGD:9068941 20200609 RGD PMID:20079717|REF_RGD_ID:6478695 11778264 SELP selectin P gene DOID:1540 parathyroid carcinoma ISO RGD:737162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11778264 SELP selectin P gene DOID:1596 depressive disorder ISO RGD:737162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25451969 11778264 SELP selectin P gene DOID:1936 atherosclerosis ISO RGD:3656 D RGD:9068941 20200609 RGD PMID:22340239|REF_RGD_ID:6480102 11778264 SELP selectin P gene DOID:1936 atherosclerosis ISO RGD:734150 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:19834105|REF_RGD_ID:6478699 11778264 SELP selectin P gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:737162 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20646456|REF_RGD_ID:6478682 11778264 SELP selectin P gene DOID:326 ischemia ISO RGD:734150 D RGD:9068941 20200609 RGD PMID:21885854|REF_RGD_ID:6218989 11778264 SELP selectin P gene DOID:3310 atopic dermatitis ISO RGD:737162 D RGD:9068941 20200609 RGD atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:point_mutation:CDS:amino acid Val640Leu PMID:12929084|REF_RGD_ID:1599904 11778264 SELP selectin P gene DOID:3393 coronary artery disease ISO RGD:737162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature coronary artery atherosclerosis 11778264 SELP selectin P gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:3656 D RGD:9068941 20200609 RGD PMID:21894146|REF_RGD_ID:6218988 11778264 SELP selectin P gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:737162 D RGD:9068941 20200609 RGD PMID:22156911|REF_RGD_ID:6218986 11778264 SELP selectin P gene DOID:5844 myocardial infarction ISO RGD:3656 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21567088|REF_RGD_ID:6218991 11778264 SELP selectin P gene DOID:5844 myocardial infarction ISO RGD:737162 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotypes:cds:p.S290N, p.N562D, p.T715P (human) PMID:12165563|REF_RGD_ID:1580075 11778264 SELP selectin P gene DOID:5844 myocardial infarction ISO RGD:737162 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21162967|REF_RGD_ID:6219003 11778264 SELP selectin P gene DOID:5844 myocardial infarction susceptibility ISO RGD:737162 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:plasma PMID:17391113|REF_RGD_ID:2312304 11778264 SELP selectin P gene DOID:6000 congestive heart failure ISO RGD:3656 D RGD:9068941 20200609 RGD PMID:19193626|REF_RGD_ID:2312309 11778264 SELP selectin P gene DOID:630 genetic disease ISO RGD:737162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778264 SELP selectin P gene DOID:676 juvenile rheumatoid arthritis severity ISO RGD:737162 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21124648|REF_RGD_ID:6219006 11778264 SELP selectin P gene DOID:8577 ulcerative colitis ISO RGD:737162 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21526498|REF_RGD_ID:6218993 11778264 SELP selectin P gene DOID:8805 intermediate coronary syndrome ISO RGD:737162 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21162967|REF_RGD_ID:6219003 11778264 SELP selectin P gene DOID:9000528 Coronary Disease ISO RGD:737162 D RGD:9068941 20200609 RGD protein:altered expression:serum PMID:11597943|REF_RGD_ID:1580074 11778264 SELP selectin P gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:737162 D RGD:9068941 20200609 RGD atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:point_mutation:CDS:amino acid Val640Leu PMID:12929084|REF_RGD_ID:1599904 11778264 SELP selectin P gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3656 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow PMID:19333758|REF_RGD_ID:2312308 11778264 SELP selectin P gene DOID:9002165 Diabetic Nephropathies ISO RGD:3656 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney, serum PMID:18471420|REF_RGD_ID:2312294 11778264 SELP selectin P gene DOID:9002165 Diabetic Nephropathies severity ISO RGD:737162 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:18026823|REF_RGD_ID:2312302 11778264 SELP selectin P gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:737162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25451969 11778264 SELP selectin P gene DOID:9002514 Neointima treatment ISO RGD:3656 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:12377736|REF_RGD_ID:729766 11778264 SELP selectin P gene DOID:9002850 Immediate Hypersensitivity ISO RGD:737162 D RGD:9068941 20200609 RGD atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:point_mutation:CDS:amino acid Val640Leu PMID:12929084|REF_RGD_ID:1599904 11778264 SELP selectin P gene DOID:9003505 Venous Thromboembolism ISO RGD:737162 D RGD:9068941 20200609 RGD associated with HIV Infections;protein:increased expression:plasma PMID:21412059|REF_RGD_ID:6219001 11778264 SELP selectin P gene DOID:9004009 Reperfusion Injury ISO RGD:3656 D RGD:9068941 20200609 RGD PMID:18521901|REF_RGD_ID:2312314 11778264 SELP selectin P gene DOID:9004009 Reperfusion Injury ISO RGD:734150 D RGD:9068941 20200609 RGD PMID:21701413|REF_RGD_ID:6218990 11778264 SELP selectin P gene DOID:9004484 Sepsis ISO RGD:734150 D RGD:9068941 20200609 RGD protein:increased expression:multiple PMID:20690979|REF_RGD_ID:6478679 11778264 SELP selectin P gene DOID:9005125 Lupus Vasculitis, Central Nervous System ISO RGD:737162 D RGD:9068941 20200609 RGD PMID:20179168|REF_RGD_ID:6478687 11778264 SELP selectin P gene DOID:9005372 Inflammation ISO RGD:734150 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix, vagina PMID:22391529|REF_RGD_ID:6480101 11778264 SELP selectin P gene DOID:9006262 Cytomegalovirus Infections ISO RGD:734150 D RGD:9068941 20200609 RGD PMID:21457388|REF_RGD_ID:6219000 11778264 SELP selectin P gene DOID:9006646 Metabolic Syndrome ISO RGD:737162 D RGD:9068941 20200609 RGD PMID:19061719|REF_RGD_ID:2312292 11778264 SELP selectin P gene DOID:9006709 Primary Graft Dysfunction ISO RGD:737162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 11778264 SELP selectin P gene DOID:9007096 Stroke ISO RGD:734150 D RGD:9068941 20200609 RGD PMID:20122276|REF_RGD_ID:6478688 11778264 SELP selectin P gene DOID:9007102 Myocardial Ischemia ISO RGD:737162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11778264 SELP selectin P gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:737162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 11778264 SELP selectin P gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3656 D RGD:9068941 20200609 RGD PMID:21146547|REF_RGD_ID:6480105 11778264 SELP selectin P gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:737162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12087064 11778264 SELP selectin P gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11778264 SELP selectin P gene DOID:9352 type 2 diabetes mellitus ISO RGD:737162 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17598012|REF_RGD_ID:2312303 11778264 SELP selectin P gene DOID:9970 obesity ISO RGD:737162 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:altered localization:platelet PMID:19228864|REF_RGD_ID:2312291 11778285 TMT1A thiol methyltransferase 1A gene DOID:0080600 COVID-19 ISO RGD:1601879 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11778285 TMT1A thiol methyltransferase 1A gene DOID:289 endometriosis ISO RGD:1601879 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11778291 CBR1 carbonyl reductase 1 gene DOID:0050700 cardiomyopathy ISO RGD:737546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11016643 11778291 CBR1 carbonyl reductase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737546 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11778291 CBR1 carbonyl reductase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:737546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11778291 CBR1 carbonyl reductase 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:737546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11778291 CBR1 carbonyl reductase 1 gene DOID:0080600 COVID-19 ISO RGD:737546 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11778291 CBR1 carbonyl reductase 1 gene DOID:1588 thrombocytopenia ISO RGD:737546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 11778291 CBR1 carbonyl reductase 1 gene DOID:2772 irritant dermatitis ISO RGD:737546 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25818598 11778291 CBR1 carbonyl reductase 1 gene DOID:630 genetic disease ISO RGD:737546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778291 CBR1 carbonyl reductase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:737546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21056497 11778291 CBR1 carbonyl reductase 1 gene DOID:783 end stage renal disease ISO RGD:737546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26282591 11778291 CBR1 carbonyl reductase 1 gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:737546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 11778291 CBR1 carbonyl reductase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11778291 CBR1 carbonyl reductase 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:737546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21056497 11778291 CBR1 carbonyl reductase 1 gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:737546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy PMID:25741868|PMID:34355501 11778298 MACO1 macoilin 1 gene DOID:630 genetic disease ISO RGD:1605378 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778298 MACO1 macoilin 1 gene DOID:9000528 Coronary Disease ISO RGD:1605378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19060911 11778298 MACO1 macoilin 1 gene DOID:9003370 Dyslipidemias ISO RGD:1605378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19060911 11778313 SPINK7 serine peptidase inhibitor Kazal type 7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606769 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11778313 SPINK7 serine peptidase inhibitor Kazal type 7 gene DOID:630 genetic disease ISO RGD:1606769 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778313 SPINK7 serine peptidase inhibitor Kazal type 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11778313 SPINK7 serine peptidase inhibitor Kazal type 7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606769 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11778321 C5 complement C5 gene DOID:0060284 paroxysmal nocturnal hemoglobinuria ISO RGD:735934 D RGD:7240710 20180130 OMIM 11778321 C5 complement C5 gene DOID:0060284 paroxysmal nocturnal hemoglobinuria ISO RGD:735934 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Eculizumab, poor response to PMID:24521109|PMID:25741868|PMID:28492532 11778321 C5 complement C5 gene DOID:0080600 COVID-19 ISO RGD:735934 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11778321 C5 complement C5 gene DOID:0080600 COVID-19 severity ISO RGD:10261 D RGD:9068941 20200625 RGD protein:increased expression:plasma (human) PMID:32417135|REF_RGD_ID:30310235 11778321 C5 complement C5 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:10261 D RGD:9068941 20200609 RGD PMID:11292607|REF_RGD_ID:5130168 11778321 C5 complement C5 gene DOID:10283 prostate cancer ISO RGD:735934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11778321 C5 complement C5 gene DOID:11394 adult respiratory distress syndrome ISO RGD:2237 D RGD:9068941 20200609 RGD associated with Burns (epidermis) PMID:10486240|REF_RGD_ID:1600658 11778321 C5 complement C5 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735934 D RGD:9068941 20200609 RGD associated with Sepsis;protein:increased activation:plasma PMID:3264125|REF_RGD_ID:5130150 11778321 C5 complement C5 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735934 D RGD:9068941 20200609 RGD protein:increased activation:respiratory system fluid/secretion PMID:3826891|REF_RGD_ID:5130153 11778321 C5 complement C5 gene DOID:12134 factor VIII deficiency ISO RGD:735934 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:6912882|REF_RGD_ID:11041156 11778321 C5 complement C5 gene DOID:1227 neutropenia ISO RGD:2237 D RGD:9068941 20200609 RGD PMID:10188960|REF_RGD_ID:1600665 11778321 C5 complement C5 gene DOID:1227 neutropenia ISO RGD:735934 D RGD:9068941 20200609 RGD PMID:10516626|REF_RGD_ID:5130180 11778321 C5 complement C5 gene DOID:1485 cystic fibrosis severity ISO RGD:735934 D RGD:9068941 20200609 RGD PMID:3540828|REF_RGD_ID:5130162 11778321 C5 complement C5 gene DOID:2452 thrombophilia treatment ISO RGD:10261 D RGD:9068941 20200609 RGD PMID:15986360|REF_RGD_ID:11040779 11778321 C5 complement C5 gene DOID:2841 asthma ISO RGD:10261 D RGD:9068941 20200609 RGD PMID:20802484|REF_RGD_ID:5129681 11778321 C5 complement C5 gene DOID:2841 asthma ISO RGD:10261 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:10973279|REF_RGD_ID:5130158 11778321 C5 complement C5 gene DOID:2841 asthma ISO RGD:2237 D RGD:9068941 20200609 RGD PMID:11591795|REF_RGD_ID:1600651 11778321 C5 complement C5 gene DOID:2841 asthma ISO RGD:735934 D RGD:9068941 20200609 RGD PMID:15278436|REF_RGD_ID:5129512 11778321 C5 complement C5 gene DOID:2841 asthma severity ISO RGD:735934 D RGD:9068941 20200609 RGD PMID:20143644|REF_RGD_ID:5129706 11778321 C5 complement C5 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:735934 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:20500690|REF_RGD_ID:5129705 11778321 C5 complement C5 gene DOID:4724 brain edema ISO RGD:2237 D RGD:9068941 20200609 RGD associated with Cerebral Hemorrhage PMID:11136932|REF_RGD_ID:1600655 11778321 C5 complement C5 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:735934 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNPs: :rs17611, rs2300929 (human) PMID:15995705|REF_RGD_ID:1600592 11778321 C5 complement C5 gene DOID:552 pneumonia ISO RGD:10261 D RGD:9068941 20200609 RGD associated with Respiratory Syncytial Virus Infections PMID:17079327|REF_RGD_ID:5129688 11778321 C5 complement C5 gene DOID:552 pneumonia ISO RGD:735934 D RGD:9068941 20200609 RGD PMID:3631740|REF_RGD_ID:5130161 11778321 C5 complement C5 gene DOID:612 primary immunodeficiency disease ISO RGD:735934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7730648 11778321 C5 complement C5 gene DOID:630 genetic disease ISO RGD:735934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11778321 C5 complement C5 gene DOID:8158 complement component 5 deficiency ISO RGD:735934 D RGD:7240710 20180130 OMIM 11778321 C5 complement C5 gene DOID:8158 complement component 5 deficiency ISO RGD:735934 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Complement component 5 deficiency PMID:15778377|PMID:16199547|PMID:17576681|PMID:19414197|PMID:22668955|PMID:23371790|PMID:24033266|PMID:24521109|PMID:25534848|PMID:25741868|PMID:27026170|PMID:28492532|PMID:7730648|PMID:9536098 11778321 C5 complement C5 gene DOID:8283 peritonitis ISO RGD:735934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19284563|PMID:19346296 11778321 C5 complement C5 gene DOID:850 lung disease ISO RGD:10261 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:3985125|REF_RGD_ID:5130154 11778321 C5 complement C5 gene DOID:850 lung disease ISO RGD:10261 D RGD:9068941 20200609 RGD Acute Lung Injury associated with Pancreatitis, Acute Necrotizing PMID:11292607|REF_RGD_ID:5130168 11778321 C5 complement C5 gene DOID:874 bacterial pneumonia ISO RGD:10261 D RGD:9068941 20200609 RGD PMID:17975174|REF_RGD_ID:5129707 11778321 C5 complement C5 gene DOID:9001044 Choroidal Neovascularization ISO RGD:10261 D RGD:9068941 20200609 RGD PMID:16849499|REF_RGD_ID:7411733 11778321 C5 complement C5 gene DOID:9002106 Pneumococcal Pneumonia severity ISO RGD:10261 D RGD:9068941 20200609 RGD PMID:7814608|REF_RGD_ID:5130159 11778321 C5 complement C5 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2237 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:25662584|REF_RGD_ID:11040807 11778321 C5 complement C5 gene DOID:9002457 Experimental Arthritis ISO RGD:10261 D RGD:9068941 20200609 RGD PMID:20975959|REF_RGD_ID:5130175 11778321 C5 complement C5 gene DOID:9002457 Experimental Arthritis ISO RGD:2237 D RGD:9068941 20200609 RGD PMID:12355496|REF_RGD_ID:1600637 11778321 C5 complement C5 gene DOID:9004009 Reperfusion Injury ISO RGD:2237 D RGD:9068941 20200609 RGD PMID:15158333|REF_RGD_ID:1600597 11778321 C5 complement C5 gene DOID:9004484 Sepsis ISO RGD:2237 D RGD:9068941 20200609 RGD PMID:14688199|REF_RGD_ID:1600599 11778321 C5 complement C5 gene DOID:9004484 Sepsis ISO RGD:2237 D RGD:9068941 20200609 RGD protein:increased activation:plasma PMID:18648551|REF_RGD_ID:5130170 11778321 C5 complement C5 gene DOID:9005724 Fungal Lung Diseases ISO RGD:10261 D RGD:9068941 20200609 RGD PMID:2612053|REF_RGD_ID:5130160 11778321 C5 complement C5 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2237 D RGD:9068941 20200609 RGD PMID:9631876|REF_RGD_ID:1600666 11778321 C5 complement C5 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2237 D RGD:9068941 20200609 RGD PMID:23067403|REF_RGD_ID:7411626 11778370 CCDC184 coiled-coil domain containing 184 gene DOID:630 genetic disease ISO RGD:1605794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778375 DERL1 derlin 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1346784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 11778375 DERL1 derlin 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1346784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11778375 DERL1 derlin 1 gene DOID:630 genetic disease ISO RGD:1346784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:0050589 inflammatory bowel disease ISO RGD:734174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very early onset inflammatory bowel disease PMID:10440830|PMID:19388116|PMID:25741868|PMID:28492532|PMID:30709874|PMID:3368442|PMID:9445163 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:0050848 obstructive sleep apnea severity ISO RGD:734174 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:sputum, macrophage, neutrophil PMID:20367952|REF_RGD_ID:4266589 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:734174 D RGD:7240710 20180130 OMIM 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:734174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10440830|PMID:10759707|PMID:10910929|PMID:10914676|PMID:12073015|PMID:1415254|PMID:16199547|PMID:16937026|PMID:17576681|PMID:1763037|PMID:18422995|PMID:18546332|PMID:19292887|PMID:19388116|PMID:19949658|PMID:20167518|PMID:21190454|PMID:22336310|PMID:2243141|PMID:22562447|PMID:22876374|PMID:22924696|PMID:23002911|PMID:23910690|PMID:25741868|PMID:26185101|PMID:26915675|PMID:26936803|PMID:27537055|PMID:27701760|PMID:27980538|PMID:28341171|PMID:28492532|PMID:28941186|PMID:29454792|PMID:29560547|PMID:30470980|PMID:30709874|PMID:30716179|PMID:31364312|PMID:31375816|PMID:31456102|PMID:32040803|PMID:32081864|PMID:3368442|PMID:33717137|PMID:34547651|PMID:3571224|PMID:4384563|PMID:8168815|PMID:9445163|PMID:9536098 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:734174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked PMID:28492532 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:734174 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:0111922 spermatogenic failure 31 ISO RGD:734174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CYBA DEFICIENCY PMID:10440830|PMID:19388116|PMID:25741868|PMID:28492532|PMID:30709874|PMID:3368442|PMID:9445163 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:1074 kidney failure ISO RGD:734174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23325087 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:10763 hypertension ISO RGD:620573 D RGD:9068941 20200609 RGD PMID:17109653|REF_RGD_ID:4775206 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:10763 hypertension ISO RGD:620573 D RGD:9068941 20200609 RGD protein:increased expression:kidney cortex PMID:20018820|REF_RGD_ID:2317853 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:10763 hypertension ISO RGD:734174 D RGD:9068941 20200609 RGD PMID:12729892|REF_RGD_ID:1580276 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:10763 hypertension ISO RGD:734174 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:16685210|PMID:17324946|PMID:20505675|PMID:32147540 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:10825 essential hypertension ISO RGD:734174 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:114 heart disease ISO RGD:734174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16330681 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:13406 pulmonary sarcoidosis no_association ISO RGD:734174 D RGD:9068941 20200609 RGD DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human) PMID:16608528|REF_RGD_ID:4780358 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:14780 KBG syndrome ISO RGD:734174 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:1936 atherosclerosis ISO RGD:734174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20720404 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:2841 asthma susceptibility ISO RGD:734174 D RGD:9068941 20200609 RGD DNA:SNPs: :-930A>G, 242C>T, 640A>G (human) PMID:18716406|REF_RGD_ID:4772770 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:2841 asthma susceptibility ISO RGD:734174 D RGD:9068941 20200609 RGD DNA:polymorphism: :-930A>G (human) PMID:19459419|REF_RGD_ID:4311041 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:2957 pulmonary tuberculosis no_association ISO RGD:734174 D RGD:9068941 20200609 RGD DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human) PMID:16608528|REF_RGD_ID:4780358 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:734174 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.H72Y (human) PMID:19567155|REF_RGD_ID:4304108 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:734174 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-930A>G, 242C>T (human) PMID:20080081|REF_RGD_ID:4293707 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:3262 phagocyte bactericidal dysfunction ISO RGD:734174 D RGD:9068941 20200609 RGD DNA:mutations: :multiple (human) PMID:18422995|REF_RGD_ID:4779762 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:3265 chronic granulomatous disease ISO RGD:734174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic granulomatous disease PMID:10440830|PMID:10759707|PMID:10910929|PMID:1415254|PMID:16199547|PMID:17576681|PMID:1763037|PMID:19292887|PMID:19388116|PMID:19949658|PMID:20167518|PMID:21190454|PMID:22336310|PMID:2243141|PMID:22876374|PMID:22924696|PMID:25741868|PMID:26185101|PMID:26936803|PMID:27537055|PMID:27701760|PMID:28341171|PMID:28492532|PMID:29454792|PMID:30709874|PMID:31456102|PMID:32040803|PMID:32081864|PMID:3368442|PMID:33717137|PMID:8168815|PMID:9445163|PMID:9536098 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:3393 coronary artery disease ISO RGD:734174 D RGD:9068941 20200609 RGD PMID:14709372|REF_RGD_ID:1578443 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:5082 liver cirrhosis ISO RGD:734174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:5844 myocardial infarction ISO RGD:620573 D RGD:9068941 20200609 RGD mRNA:increase expression:ventricle myocardium: PMID:11243862|REF_RGD_ID:1599690 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:5844 myocardial infarction ISO RGD:620573 D RGD:9068941 20200609 RGD mRNA:increased expression:myocardium PMID:18762777|REF_RGD_ID:2317860 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:630 genetic disease ISO RGD:734174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:6432 pulmonary hypertension ISO RGD:620573 D RGD:9068941 20200609 RGD PMID:18424632|REF_RGD_ID:4773907 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:6432 pulmonary hypertension ISO RGD:734175 D RGD:9068941 20200609 RGD associated with Anoxia;mRNA, protein:increased expression:lung PMID:18952568|REF_RGD_ID:4762683 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:783 end stage renal disease ISO RGD:620573 D RGD:9068941 20200609 RGD PMID:19420110|REF_RGD_ID:2306994 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:783 end stage renal disease ISO RGD:734174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:8947 diabetic retinopathy ISO RGD:620573 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19685553|REF_RGD_ID:2317854 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:9000039 Spinal Cord Injuries ISO RGD:620573 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:16345062|REF_RGD_ID:1599510 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:9000528 Coronary Disease ISO RGD:734174 D RGD:9068941 20200609 RGD PMID:10488959|REF_RGD_ID:1580275 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:9001371 Eosinophilia ISO RGD:620573 D RGD:9068941 20200609 RGD DNA:deletion:splice junction: PMID:19406829|REF_RGD_ID:11040542 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:9001371 Eosinophilia ISO RGD:620573 D RGD:9068941 20201211 RGD PMID:20660993|PMID:21512270|REF_RGD_ID:5134976|REF_RGD_ID:5134988 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:9002165 Diabetic Nephropathies ISO RGD:734174 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :242C>T (human) PMID:14747204|REF_RGD_ID:8695982 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:734174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:9004009 Reperfusion Injury ISO RGD:620573 D RGD:9068941 20200609 RGD PMID:15148062|REF_RGD_ID:1599683 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:9005369 Hepatomegaly ISO RGD:734174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620573 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta PMID:20226688|REF_RGD_ID:2317852 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620573 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas: PMID:23905384|REF_RGD_ID:11040693 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11812764|PMID:12967931 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:9006646 Metabolic Syndrome ISO RGD:620573 D RGD:9068941 20200609 RGD PMID:16741160|REF_RGD_ID:2317864 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:9352 type 2 diabetes mellitus ISO RGD:734174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15531508 11778387 LOC100986914 cytochrome b-245 light chain gene DOID:9952 acute lymphoblastic leukemia ISO RGD:734174 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell: PMID:19222940|REF_RGD_ID:11040545 11778402 CLDN17 claudin 17 gene DOID:630 genetic disease ISO RGD:1316669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778407 PNRC2 proline rich nuclear receptor coactivator 2 gene DOID:630 genetic disease ISO RGD:1351134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778407 PNRC2 proline rich nuclear receptor coactivator 2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1351134 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11778422 RAB31 RAB31, member RAS oncogene family gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:734458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11778422 RAB31 RAB31, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:734458 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11778422 RAB31 RAB31, member RAS oncogene family gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:734458 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 11778422 RAB31 RAB31, member RAS oncogene family gene DOID:543 dystonia ISO RGD:734458 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 11778422 RAB31 RAB31, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:734458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778422 RAB31 RAB31, member RAS oncogene family gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734458 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11778436 STK32A serine/threonine kinase 32A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318050 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11778436 STK32A serine/threonine kinase 32A gene DOID:630 genetic disease ISO RGD:1318050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778436 STK32A serine/threonine kinase 32A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11778436 STK32A serine/threonine kinase 32A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318050 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11778462 TMEM207 transmembrane protein 207 gene DOID:2433 epidermal appendage tumor ISO RGD:2299488 D RGD:9068941 20220825 MouseDO 11778462 TMEM207 transmembrane protein 207 gene DOID:5419 schizophrenia ISO RGD:1602436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11778462 TMEM207 transmembrane protein 207 gene DOID:630 genetic disease ISO RGD:1602436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778469 STXBP6 syntaxin binding protein 6 gene DOID:12849 autistic disorder ISO RGD:1314544 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20071347 11778469 STXBP6 syntaxin binding protein 6 gene DOID:630 genetic disease ISO RGD:1314544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778469 STXBP6 syntaxin binding protein 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1314544 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11778489 GNAS GNAS complex locus gene DOID:0050581 brachydactyly ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12719376 11778489 GNAS GNAS complex locus gene DOID:0060001 withdrawal disorder ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12199159 11778489 GNAS GNAS complex locus gene DOID:0080053 Albright's hereditary osteodystrophy ISO RGD:736916 D RGD:7240710 20180509 OMIM 11778489 GNAS GNAS complex locus gene DOID:0080053 Albright's hereditary osteodystrophy ISO RGD:736916 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Albright hereditary osteodystrophy with multiple hormone resistance | ClinVar Annotator: match by term: PHP IA | ClinVar Annotator: match by term: PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS | ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IA | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1A PMID:11093740|PMID:11412411|PMID:11450852|PMID:11600516|PMID:11784876|PMID:12024004|PMID:12621129|PMID:12727968|PMID:12970318|PMID:1505964|PMID:15126527|PMID:1517386|PMID:15711092|PMID:1594625|PMID:15952988|PMID:16507630|PMID:18553568|PMID:18796523|PMID:1944469|PMID:20427508|PMID:2109828|PMID:21525160|PMID:21835143|PMID:23281139|PMID:23403822|PMID:23536913|PMID:23796510|PMID:23843956|PMID:23884777|PMID:24033266|PMID:24481334|PMID:24626099|PMID:24855271|PMID:24914079|PMID:24982418|PMID:25044890|PMID:25157968|PMID:25219572|PMID:2549426|PMID:25719192|PMID:25741868|PMID:25802881|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:28708303|PMID:29059381|PMID:29072892|PMID:29379892|PMID:29628140|PMID:29970488|PMID:30349702|PMID:30674755|PMID:30702195|PMID:30729047|PMID:31793173|PMID:31886927|PMID:34008892|PMID:34254228|PMID:34418133|PMID:34614324|PMID:35296306|PMID:35357904|PMID:35497370|PMID:3720010|PMID:8072545|PMID:8388883|PMID:8702665|PMID:9159128|PMID:9727013|PMID:9876352 11778489 GNAS GNAS complex locus gene DOID:0080222 pseudohypoparathyroidism type IB ISO RGD:736916 D RGD:7240710 20180509 OMIM 11778489 GNAS GNAS complex locus gene DOID:0080222 pseudohypoparathyroidism type IB ISO RGD:736916 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IB | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B PMID:11600516|PMID:11784876|PMID:12024004|PMID:12621129|PMID:12970262|PMID:1505964|PMID:15711092|PMID:16199547|PMID:18553568|PMID:18796523|PMID:20015054|PMID:20427508|PMID:21525160|PMID:23281139|PMID:23796510|PMID:23884777|PMID:24033266|PMID:24481334|PMID:24626099|PMID:24728327|PMID:25044890|PMID:25219572|PMID:25741868|PMID:25802881|PMID:28492532|PMID:29059381|PMID:29072892|PMID:30349702|PMID:30674755|PMID:30729047|PMID:31793173|PMID:31886927|PMID:34254228|PMID:34418133|PMID:34614324|PMID:35296306|PMID:35357904|PMID:35497370|PMID:8702665|PMID:9876352 11778489 GNAS GNAS complex locus gene DOID:0080322 polycystic kidney disease ISO RGD:2716 D RGD:9068941 20200609 RGD protein:increased expression:cholangiocyte PMID:28543567|REF_RGD_ID:14700993 11778489 GNAS GNAS complex locus gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant PMID:23281139|PMID:25741868|PMID:25802881|PMID:28492532|PMID:29072892|PMID:34008892|PMID:8388883 11778489 GNAS GNAS complex locus gene DOID:0111535 progressive osseous heteroplasia ISO RGD:736916 D RGD:7240710 20180509 OMIM 11778489 GNAS GNAS complex locus gene DOID:0111535 progressive osseous heteroplasia ISO RGD:736916 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ECTOPIC OSSIFICATION, FAMILIAL | ClinVar Annotator: match by term: Progressive osseous heteroplasia PMID:11600516|PMID:11784876|PMID:12024004|PMID:12621129|PMID:1505964|PMID:15711092|PMID:18553568|PMID:18796523|PMID:20427508|PMID:2122458|PMID:23281139|PMID:23796510|PMID:24033266|PMID:24481334|PMID:24626099|PMID:25044890|PMID:25219572|PMID:25741868|PMID:25802881|PMID:28492532|PMID:29059381|PMID:29072892|PMID:30349702|PMID:30674755|PMID:30729047|PMID:31793173|PMID:31886927|PMID:34254228|PMID:34418133|PMID:34614324|PMID:35296306|PMID:35357904|PMID:35497370|PMID:8557265|PMID:8702665|PMID:9876352 11778489 GNAS GNAS complex locus gene DOID:0111622 ACTH-independent macronodular adrenal hyperplasia ISO RGD:736916 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA PMID:11600516|PMID:11784876|PMID:12024004|PMID:12621129|PMID:1505964|PMID:15711092|PMID:18553568|PMID:18796523|PMID:20427508|PMID:23281139|PMID:23796510|PMID:24481334|PMID:24626099|PMID:25044890|PMID:25219572|PMID:25741868|PMID:25802881|PMID:28492532|PMID:29059381|PMID:29072892|PMID:30349702|PMID:30674755|PMID:30729047|PMID:31793173|PMID:31886927|PMID:34254228|PMID:34418133|PMID:34614324|PMID:35296306|PMID:35357904|PMID:35497370|PMID:8702665|PMID:9876352 11778489 GNAS GNAS complex locus gene DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 ISO RGD:736916 D RGD:7240710 20180509 OMIM 11778489 GNAS GNAS complex locus gene DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 ISO RGD:736916 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ACTH-INDEPENDENT MACRONODULAR ADRENOCORTICAL HYPERPLASIA PMID:11600516|PMID:11784876|PMID:12024004|PMID:12621129|PMID:1505964|PMID:15711092|PMID:18553568|PMID:18796523|PMID:20427508|PMID:23281139|PMID:23796510|PMID:24481334|PMID:24626099|PMID:25044890|PMID:25219572|PMID:25741868|PMID:25802881|PMID:28492532|PMID:29059381|PMID:29072892|PMID:30349702|PMID:30674755|PMID:30729047|PMID:31793173|PMID:31886927|PMID:34254228|PMID:34418133|PMID:34614324|PMID:35296306|PMID:35357904|PMID:35497370|PMID:8702665|PMID:9876352 11778489 GNAS GNAS complex locus gene DOID:0112010 pituitary adenoma 3 ISO RGD:736916 D RGD:7240710 20190315 OMIM 11778489 GNAS GNAS complex locus gene DOID:0112010 pituitary adenoma 3 ISO RGD:736916 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pituitary adenoma 3, multiple types PMID:11093740|PMID:11600516|PMID:11784876|PMID:12024004|PMID:12621129|PMID:12727968|PMID:12970318|PMID:1505964|PMID:15126527|PMID:1517386|PMID:15711092|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17493233|PMID:17873334|PMID:18553568|PMID:18796523|PMID:1944469|PMID:20197676|PMID:20427508|PMID:21835143|PMID:23281139|PMID:23403822|PMID:23536913|PMID:23796510|PMID:23843956|PMID:24481334|PMID:24626099|PMID:24855271|PMID:25044890|PMID:25157968|PMID:25219572|PMID:2549426|PMID:25719192|PMID:25741868|PMID:25802881|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:29059381|PMID:29072892|PMID:30349702|PMID:30674755|PMID:30702195|PMID:30729047|PMID:31793173|PMID:31886927|PMID:34254228|PMID:34418133|PMID:34614324|PMID:35296306|PMID:35357904|PMID:35497370|PMID:3720010|PMID:7737262|PMID:7739708|PMID:8702665|PMID:8766942|PMID:9626141|PMID:9876352 11778489 GNAS GNAS complex locus gene DOID:1059 intellectual disability ISO RGD:736916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11778489 GNAS GNAS complex locus gene DOID:10652 Alzheimer's disease ISO RGD:736916 D RGD:9068941 20200609 RGD PMID:8012802|REF_RGD_ID:10401266 11778489 GNAS GNAS complex locus gene DOID:10763 hypertension ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9506701 11778489 GNAS GNAS complex locus gene DOID:10763 hypertension ISO RGD:736916 D RGD:9068941 20200609 RGD PMID:12215464|REF_RGD_ID:1580404 11778489 GNAS GNAS complex locus gene DOID:11612 polycystic ovary syndrome ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11778489 GNAS GNAS complex locus gene DOID:14566 disease of cellular proliferation ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 11778489 GNAS GNAS complex locus gene DOID:1793 pancreatic cancer ISO RGD:736916 D RGD:9068941 20200609 RGD PMID:12771991|REF_RGD_ID:2317256 11778489 GNAS GNAS complex locus gene DOID:1858 McCune Albright syndrome ISO RGD:736916 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Albright's disease | ClinVar Annotator: match by term: McCune-Albright syndrome PMID:10571700|PMID:11092390|PMID:11093740|PMID:11600516|PMID:11784876|PMID:12024004|PMID:12621129|PMID:12727968|PMID:12970318|PMID:1505964|PMID:15126527|PMID:1517386|PMID:15711092|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17493233|PMID:17873334|PMID:18553568|PMID:18796523|PMID:1944469|PMID:20197676|PMID:20427508|PMID:21525160|PMID:21835143|PMID:23281139|PMID:23403822|PMID:23533243|PMID:23536913|PMID:23796510|PMID:23843956|PMID:24088041|PMID:24481334|PMID:24626099|PMID:24728327|PMID:24855271|PMID:25044890|PMID:25157968|PMID:25219572|PMID:2549426|PMID:25719192|PMID:25741868|PMID:25802881|PMID:26619011|PMID:26633545|PMID:27398169|PMID:27506760|PMID:27703483|PMID:28492532|PMID:29059381|PMID:29072892|PMID:30349702|PMID:30674755|PMID:30702195|PMID:30729047|PMID:31793173|PMID:31886927|PMID:34254228|PMID:34418133|PMID:34614324|PMID:35296306|PMID:35357904|PMID:35497370|PMID:3720010|PMID:7737262|PMID:7739708|PMID:7751320|PMID:8702665|PMID:8766942|PMID:9267696|PMID:9626141|PMID:9876352 11778489 GNAS GNAS complex locus gene DOID:1909 melanoma ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 11778489 GNAS GNAS complex locus gene DOID:192 sex cord-gonadal stromal tumor ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sex cord-stromal tumor PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 11778489 GNAS GNAS complex locus gene DOID:2213 hemorrhagic disease ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11583302 11778489 GNAS GNAS complex locus gene DOID:2449 acromegaly ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11254676 11778489 GNAS GNAS complex locus gene DOID:28 endocrine system disease ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1594625|PMID:1944469 11778489 GNAS GNAS complex locus gene DOID:3717 gastric adenocarcinoma ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 11778489 GNAS GNAS complex locus gene DOID:3910 lung adenocarcinoma ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 11778489 GNAS GNAS complex locus gene DOID:3947 adrenal gland hyperfunction ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperadrenocorticism PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9267696|PMID:9626141 11778489 GNAS GNAS complex locus gene DOID:3948 adrenocortical carcinoma ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 11778489 GNAS GNAS complex locus gene DOID:4074 pancreatic adenocarcinoma ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 11778489 GNAS GNAS complex locus gene DOID:4183 pseudopseudohypoparathyroidism ISO RGD:736916 D RGD:7240710 20180509 OMIM 11778489 GNAS GNAS complex locus gene DOID:4183 pseudopseudohypoparathyroidism ISO RGD:736916 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Albright hereditary osteodystrophy without multiple hormone resistance | ClinVar Annotator: match by term: Pseudopseudohypoparathyroidism PMID:10487696|PMID:11092390|PMID:11095461|PMID:11600516|PMID:11784876|PMID:12024004|PMID:12621129|PMID:12624854|PMID:1505964|PMID:15711092|PMID:16199547|PMID:18553568|PMID:18796523|PMID:20427508|PMID:2122458|PMID:21525160|PMID:219790|PMID:23281139|PMID:23533243|PMID:23796510|PMID:24033266|PMID:24088041|PMID:24481334|PMID:24626099|PMID:25044890|PMID:25219572|PMID:25594858|PMID:25741868|PMID:25802881|PMID:26633545|PMID:27703483|PMID:28492532|PMID:28708303|PMID:29059381|PMID:29072892|PMID:30349702|PMID:30674755|PMID:30729047|PMID:31793173|PMID:31886927|PMID:34008892|PMID:34254228|PMID:34418133|PMID:34614324|PMID:35296306|PMID:35357904|PMID:35497370|PMID:7853365|PMID:8702665|PMID:9506752|PMID:9727013|PMID:9876352 11778489 GNAS GNAS complex locus gene DOID:4184 pseudohypoparathyroidism ISO RGD:736916 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pseudohypoparathyroidism PMID:10487696|PMID:11073544|PMID:11092390|PMID:11095461|PMID:11450852|PMID:11600516|PMID:11784876|PMID:12024004|PMID:12621129|PMID:12970262|PMID:1505964|PMID:15711092|PMID:17164301|PMID:17299070|PMID:17962410|PMID:18553568|PMID:18796523|PMID:20427508|PMID:2109828|PMID:2122458|PMID:21488135|PMID:21525160|PMID:21713996|PMID:21747923|PMID:219790|PMID:23281139|PMID:23533243|PMID:23796510|PMID:24088041|PMID:24481334|PMID:24626099|PMID:24651309|PMID:25044890|PMID:25219572|PMID:25326637|PMID:25741868|PMID:25802881|PMID:26633545|PMID:27703483|PMID:28492532|PMID:29059381|PMID:29072892|PMID:29193623|PMID:30349702|PMID:30674755|PMID:30729047|PMID:31793173|PMID:31886927|PMID:34008892|PMID:34254228|PMID:34418133|PMID:34614324|PMID:35296306|PMID:35357904|PMID:35497370|PMID:8388883|PMID:8557265|PMID:8702665|PMID:9159128|PMID:9328353|PMID:9506752|PMID:9876352 11778489 GNAS GNAS complex locus gene DOID:446 primary hyperaldosteronism ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cushing syndrome | ClinVar Annotator: match by term: Cushing's syndrome PMID:11093740|PMID:11784876|PMID:12727968|PMID:12970262|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:2109828|PMID:21525160|PMID:21713996|PMID:21835143|PMID:23281139|PMID:23403822|PMID:23536913|PMID:23796510|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:25802881|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:29059381|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9267696|PMID:9626141 11778489 GNAS GNAS complex locus gene DOID:4479 pseudohypoaldosteronism ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11778489 GNAS GNAS complex locus gene DOID:4947 cholangiocarcinoma ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 11778489 GNAS GNAS complex locus gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:736916 D RGD:9068941 20200609 RGD DNA:polymorphism:393T>C (human) PMID:17356712|REF_RGD_ID:1601377 11778489 GNAS GNAS complex locus gene DOID:5419 schizophrenia ISO RGD:10669 D RGD:9068941 20220825 MouseDO OMIM:181500 11778489 GNAS GNAS complex locus gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 11778489 GNAS GNAS complex locus gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11254676 11778489 GNAS GNAS complex locus gene DOID:630 genetic disease ISO RGD:736916 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11092390|PMID:11600516|PMID:11784876|PMID:12024004|PMID:12624854|PMID:12970262|PMID:1505964|PMID:15711092|PMID:16199547|PMID:18553568|PMID:18796523|PMID:20427508|PMID:21525160|PMID:23281139|PMID:23533243|PMID:23796510|PMID:24088041|PMID:24481334|PMID:24626099|PMID:24651309|PMID:24982418|PMID:25044890|PMID:25219572|PMID:25741868|PMID:25802881|PMID:26633545|PMID:27703483|PMID:27871293|PMID:28492532|PMID:28708303|PMID:29059381|PMID:29072892|PMID:29628140|PMID:30349702|PMID:30674755|PMID:30729047|PMID:31793173|PMID:31886927|PMID:34254228|PMID:34418133|PMID:34614324|PMID:35296306|PMID:35357904|PMID:35497370|PMID:7853365|PMID:8702665|PMID:9727013|PMID:9876352 11778489 GNAS GNAS complex locus gene DOID:684 hepatocellular carcinoma ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 11778489 GNAS GNAS complex locus gene DOID:769 neuroblastoma ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20862257 11778489 GNAS GNAS complex locus gene DOID:8923 skin melanoma ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 11778489 GNAS GNAS complex locus gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747643 11778489 GNAS GNAS complex locus gene DOID:9000882 Pseudohypoparathyroidism Type IC ISO RGD:736916 D RGD:7240710 20180509 OMIM 11778489 GNAS GNAS complex locus gene DOID:9000882 Pseudohypoparathyroidism Type IC ISO RGD:736916 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: PHP IC | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1C PMID:11600516|PMID:11784876|PMID:11788646|PMID:12024004|PMID:12621129|PMID:12970262|PMID:1505964|PMID:15711092|PMID:18553568|PMID:18796523|PMID:20427508|PMID:21488135|PMID:21525160|PMID:23281139|PMID:23796510|PMID:24033266|PMID:24481334|PMID:24626099|PMID:24651309|PMID:25044890|PMID:25219572|PMID:25741868|PMID:25802881|PMID:28492532|PMID:29059381|PMID:29072892|PMID:30349702|PMID:30674755|PMID:30729047|PMID:31793173|PMID:31886927|PMID:34254228|PMID:34418133|PMID:34614324|PMID:35296306|PMID:35357904|PMID:35497370|PMID:8702665|PMID:9876352 11778489 GNAS GNAS complex locus gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:736916 D RGD:9068941 20200609 RGD DNA:polymorphism:393T>C (human) PMID:17020971|REF_RGD_ID:1601379 11778489 GNAS GNAS complex locus gene DOID:9002234 Pituitary Neoplasms ISO RGD:736916 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.201R>C, p.201R>H, p.227Q>R (human) PMID:2549426|REF_RGD_ID:1601376 11778489 GNAS GNAS complex locus gene DOID:9002278 Metabolic Bone Diseases ISO RGD:736916 D RGD:9068941 20200609 RGD Albright hereditary osteodystrophy,OMIM:103580;DNA:deletion PMID:2122458|REF_RGD_ID:1601375 11778489 GNAS GNAS complex locus gene DOID:9002453 Cafe-au-Lait Spots ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1594625|PMID:1944469 11778489 GNAS GNAS complex locus gene DOID:9002554 Tachycardia ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9506701 11778489 GNAS GNAS complex locus gene DOID:9002669 Hypoxia ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20862257 11778489 GNAS GNAS complex locus gene DOID:9003155 Parasitic Liver Diseases ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 11778489 GNAS GNAS complex locus gene DOID:9003295 Heterotopic Ossification ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18553568 11778489 GNAS GNAS complex locus gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 11778489 GNAS GNAS complex locus gene DOID:9004659 Respiration Disorders ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9506701 11778489 GNAS GNAS complex locus gene DOID:9005158 Cushing Syndrome ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cushing syndrome | ClinVar Annotator: match by term: Cushing's syndrome PMID:11093740|PMID:11784876|PMID:12727968|PMID:12970262|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:2109828|PMID:21525160|PMID:21713996|PMID:21835143|PMID:23281139|PMID:23403822|PMID:23536913|PMID:23796510|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:25802881|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:29059381|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9267696|PMID:9626141 11778489 GNAS GNAS complex locus gene DOID:9005321 Primary Pigmented Nodular Adrenocortical Disease, 1 ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nodular primary adrenocortical dysplasia PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9267696|PMID:9626141 11778489 GNAS GNAS complex locus gene DOID:9005950 Orthostatic Hypotension susceptibility ISO RGD:736916 D RGD:9068941 20200609 RGD DNA:SNP: : 393T>C(human) PMID:11910300|REF_RGD_ID:1580406 11778489 GNAS GNAS complex locus gene DOID:9006113 Gallstones ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21823526 11778489 GNAS GNAS complex locus gene DOID:9007284 Precocious Puberty ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1594625|PMID:1944469 11778489 GNAS GNAS complex locus gene DOID:9007692 Insulin Resistance ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17062894 11778489 GNAS GNAS complex locus gene DOID:9008443 Colorectal Neoplasms ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 11778489 GNAS GNAS complex locus gene DOID:9008939 Breast Neoplasms ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 11778489 GNAS GNAS complex locus gene DOID:9970 obesity ISO RGD:736916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:11784876|PMID:12970262|PMID:21525160|PMID:23281139|PMID:23796510|PMID:25741868|PMID:25802881|PMID:28492532|PMID:29059381 11778494 TAF12 TATA-box binding protein associated factor 12 gene DOID:630 genetic disease ISO RGD:1348553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778507 FHIP1B FHF complex subunit HOOK interacting protein 1B gene DOID:10283 prostate cancer ISO RGD:1604775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11778507 FHIP1B FHF complex subunit HOOK interacting protein 1B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11778507 FHIP1B FHF complex subunit HOOK interacting protein 1B gene DOID:630 genetic disease ISO RGD:1604775 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778533 GMEB1 glucocorticoid modulatory element binding protein 1 gene DOID:630 genetic disease ISO RGD:1603227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778556 ZFX zinc finger protein X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11778556 ZFX zinc finger protein X-linked gene DOID:12849 autistic disorder ISO RGD:1344344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11778556 ZFX zinc finger protein X-linked gene DOID:630 genetic disease ISO RGD:1344344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778556 ZFX zinc finger protein X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11778593 ZNF681 zinc finger protein 681 gene DOID:13938 amenorrhea ISO RGD:1606957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11778593 ZNF681 zinc finger protein 681 gene DOID:630 genetic disease ISO RGD:1606957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778652 WSCD1 WSC domain containing 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1603698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11778652 WSCD1 WSC domain containing 1 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1603698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 11778652 WSCD1 WSC domain containing 1 gene DOID:630 genetic disease ISO RGD:1603698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778652 WSCD1 WSC domain containing 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1603698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11778671 RASSF1 Ras association domain family member 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24146755 11778671 RASSF1 Ras association domain family member 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 11778671 RASSF1 Ras association domain family member 1 gene DOID:0050902 medulloblastoma ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21880625 11778671 RASSF1 Ras association domain family member 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 11778671 RASSF1 Ras association domain family member 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1343966 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:17960617|REF_RGD_ID:2299865 11778671 RASSF1 Ras association domain family member 1 gene DOID:11054 urinary bladder cancer ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15987713 11778671 RASSF1 Ras association domain family member 1 gene DOID:11054 urinary bladder cancer ISO RGD:1343966 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:18702824|REF_RGD_ID:2299860 11778671 RASSF1 Ras association domain family member 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19652091 11778671 RASSF1 Ras association domain family member 1 gene DOID:1395 schistosomiasis ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23527093 11778671 RASSF1 Ras association domain family member 1 gene DOID:1612 breast cancer ISO RGD:1343966 D RGD:9068941 20200609 RGD DNA, mRNA, protein:hypermethylation, decreased expression:promoter, breast PMID:18425370|REF_RGD_ID:2299869 11778671 RASSF1 Ras association domain family member 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1343966 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:18483325|REF_RGD_ID:2299868 11778671 RASSF1 Ras association domain family member 1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1343966 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:16545186|REF_RGD_ID:2299867 11778671 RASSF1 Ras association domain family member 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1343966 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, urinary bladder PMID:18480993|REF_RGD_ID:2299862 11778671 RASSF1 Ras association domain family member 1 gene DOID:2871 endometrial carcinoma ISO RGD:1343966 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, PMID:18469797|REF_RGD_ID:2299863 11778671 RASSF1 Ras association domain family member 1 gene DOID:299 adenocarcinoma ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15639718 11778671 RASSF1 Ras association domain family member 1 gene DOID:365 bladder disease ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23527093 11778671 RASSF1 Ras association domain family member 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18337602 11778671 RASSF1 Ras association domain family member 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1343966 D RGD:9068941 20220708 RGD DNA:hypermethylation PMID:27777637|REF_RGD_ID:152998954 11778671 RASSF1 Ras association domain family member 1 gene DOID:4362 cervical cancer ISO RGD:1343966 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections;DNA:hypermethylation:promoter PMID:18608185|REF_RGD_ID:2299861 11778671 RASSF1 Ras association domain family member 1 gene DOID:4450 renal cell carcinoma ISO RGD:1343966 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:17645803|REF_RGD_ID:2299866 11778671 RASSF1 Ras association domain family member 1 gene DOID:630 genetic disease ISO RGD:1343966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778671 RASSF1 Ras association domain family member 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008439 11778671 RASSF1 Ras association domain family member 1 gene DOID:9003566 Mesothelioma ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12082623|PMID:15639718 11778671 RASSF1 Ras association domain family member 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18337602 11778671 RASSF1 Ras association domain family member 1 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26410583 11778671 RASSF1 Ras association domain family member 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343966 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11778690 BRS3 bombesin receptor subtype 3 gene DOID:0060022 CD40 ligand deficiency ISO RGD:733512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11778690 BRS3 bombesin receptor subtype 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11778690 BRS3 bombesin receptor subtype 3 gene DOID:0060825 Christianson syndrome ISO RGD:733512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11778690 BRS3 bombesin receptor subtype 3 gene DOID:10763 hypertension ISO RGD:733513 D RGD:9068941 20200609 RGD PMID:9367152|REF_RGD_ID:734661 11778690 BRS3 bombesin receptor subtype 3 gene DOID:12849 autistic disorder ISO RGD:733512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11778690 BRS3 bombesin receptor subtype 3 gene DOID:630 genetic disease ISO RGD:733512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778690 BRS3 bombesin receptor subtype 3 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:733512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11778690 BRS3 bombesin receptor subtype 3 gene DOID:9002916 Hyperphagia ISO RGD:733513 D RGD:9068941 20200609 RGD PMID:9367152|REF_RGD_ID:734661 11778690 BRS3 bombesin receptor subtype 3 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:733512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Visceral heterotaxia PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11778690 BRS3 bombesin receptor subtype 3 gene DOID:9007823 Chromosome Xq26.3 Duplication Syndrome ISO RGD:733512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome PMID:26935837 11778690 BRS3 bombesin receptor subtype 3 gene DOID:9970 obesity ISO RGD:733513 D RGD:9068941 20200609 RGD PMID:9367152|REF_RGD_ID:734661 11778697 PLA2G4D phospholipase A2 group IVD gene DOID:2717 Bloom syndrome ISO RGD:1352050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11778697 PLA2G4D phospholipase A2 group IVD gene DOID:630 genetic disease ISO RGD:1352050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778697 PLA2G4D phospholipase A2 group IVD gene DOID:9256 colorectal cancer ISO RGD:1352050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11778721 FUT1 fucosyltransferase 1 (H blood group) gene DOID:630 genetic disease ISO RGD:737372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778732 GGT5 gamma-glutamyltransferase 5 gene DOID:1826 epilepsy ISO RGD:733414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11778732 GGT5 gamma-glutamyltransferase 5 gene DOID:5419 schizophrenia ISO RGD:733414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11778732 GGT5 gamma-glutamyltransferase 5 gene DOID:630 genetic disease ISO RGD:733414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778732 GGT5 gamma-glutamyltransferase 5 gene DOID:9005172 Lung Neoplasms ISO RGD:2684 D RGD:9068941 20200611 RGD mRNA:increased expression:lung PMID:9374738|REF_RGD_ID:69846 11778748 ASF1B anti-silencing function 1B histone chaperone gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1312634 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29581250 11778748 ASF1B anti-silencing function 1B histone chaperone gene DOID:1612 breast cancer disease_progression ISO RGD:1312634 D RGD:9068941 20200609 RGD PMID:21179005|REF_RGD_ID:9586017 11778748 ASF1B anti-silencing function 1B histone chaperone gene DOID:630 genetic disease ISO RGD:1312634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778748 ASF1B anti-silencing function 1B histone chaperone gene DOID:684 hepatocellular carcinoma ISO RGD:1312634 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11778756 MASTL microtubule associated serine/threonine kinase like gene DOID:1588 thrombocytopenia ISO RGD:1319386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532 11778756 MASTL microtubule associated serine/threonine kinase like gene DOID:630 genetic disease ISO RGD:1319386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778756 MASTL microtubule associated serine/threonine kinase like gene DOID:9003390 Thrombocytopenia 2 ISO RGD:1319386 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 2 PMID:10891439|PMID:12890928|PMID:19460416|PMID:22102272|PMID:25741868|PMID:28492532 11778756 MASTL microtubule associated serine/threonine kinase like gene DOID:9005280 Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities ISO RGD:1319386 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities PMID:25741868 11778781 LOC100969759 olfactory receptor 10G7 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1344862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11778781 LOC100969759 olfactory receptor 10G7 gene DOID:5419 schizophrenia ISO RGD:1344862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11778781 LOC100969759 olfactory receptor 10G7 gene DOID:630 genetic disease ISO RGD:1344862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778781 LOC100969759 olfactory receptor 10G7 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1344862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11778781 LOC100969759 olfactory receptor 10G7 gene DOID:9007661 Dwarfism ISO RGD:1344862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11778784 LINC03034 long intergenic non-protein coding RNA 3034 gene DOID:0060394 chromosome 15q13.3 microdeletion syndrome ISO RGD:16562405 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome PMID:31690835 11778784 LINC03034 long intergenic non-protein coding RNA 3034 gene DOID:12849 autistic disorder ISO RGD:16562405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11778784 LINC03034 long intergenic non-protein coding RNA 3034 gene DOID:5419 schizophrenia ISO RGD:16562405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11778791 GEM GTP binding protein overexpressed in skeletal muscle gene DOID:11372 megacolon ISO RGD:1316557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11778791 GEM GTP binding protein overexpressed in skeletal muscle gene DOID:1686 glaucoma ISO RGD:1307386 D RGD:9068941 20221027 RGD mRNA:decreased expression:optic nerve head (rat) PMID:28990066|REF_RGD_ID:155630605 11778791 GEM GTP binding protein overexpressed in skeletal muscle gene DOID:630 genetic disease ISO RGD:1316557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778803 EIF3L eukaryotic translation initiation factor 3 subunit L gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1317885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11778803 EIF3L eukaryotic translation initiation factor 3 subunit L gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1317885 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11778803 EIF3L eukaryotic translation initiation factor 3 subunit L gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1317885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11778803 EIF3L eukaryotic translation initiation factor 3 subunit L gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1317885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11778803 EIF3L eukaryotic translation initiation factor 3 subunit L gene DOID:630 genetic disease ISO RGD:1317885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778820 TUBE1 tubulin epsilon 1 gene DOID:630 genetic disease ISO RGD:1314442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778837 PKN1 protein kinase N1 gene DOID:630 genetic disease ISO RGD:1352784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778837 PKN1 protein kinase N1 gene DOID:9002514 Neointima ameliorates ISO RGD:69308 D RGD:9068941 20230413 RGD PMID:22893700|REF_RGD_ID:243065233 11778872 SLC6A7 solute carrier family 6 member 7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:734004 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11778872 SLC6A7 solute carrier family 6 member 7 gene DOID:630 genetic disease ISO RGD:734004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11778872 SLC6A7 solute carrier family 6 member 7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734004 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11778891 LZTS3 leucine zipper tumor suppressor family member 3 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:737584 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11778891 LZTS3 leucine zipper tumor suppressor family member 3 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:737584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11778891 LZTS3 leucine zipper tumor suppressor family member 3 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:737584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 11778918 LRBA LPS responsive beige-like anchor protein gene DOID:0060019 coronin-1A deficiency ISO RGD:1322886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:16199547|PMID:25741868|PMID:26206937|PMID:26768763|PMID:28492532 11778918 LRBA LPS responsive beige-like anchor protein gene DOID:0081151 common variable immunodeficiency 8 ISO RGD:1322886 D RGD:7240710 20180130 OMIM 11778918 LRBA LPS responsive beige-like anchor protein gene DOID:0081151 common variable immunodeficiency 8 ISO RGD:1322886 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity PMID:16199547|PMID:17576681|PMID:22608502|PMID:22721650|PMID:24033266|PMID:25468195|PMID:25640679|PMID:25741868|PMID:25931386|PMID:26122175|PMID:26206937|PMID:26768763|PMID:27379089|PMID:28197149|PMID:28473463|PMID:28492532|PMID:28720148|PMID:28956255|PMID:29867916|PMID:30363934|PMID:31432443|PMID:31876783|PMID:31887391|PMID:32084423|PMID:32135276|PMID:32499645|PMID:32707200|PMID:33225392|PMID:33359885|PMID:33481921|PMID:33717114|PMID:34093558|PMID:34573280|PMID:9536098 11778918 LRBA LPS responsive beige-like anchor protein gene DOID:0111802 syndromic microphthalmia 14 ISO RGD:1322886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colobomatous microphthalmia-rhizomelic dysplasia syndrome PMID:24906020|PMID:25719200|PMID:25741868|PMID:32860008|PMID:34008892 11778918 LRBA LPS responsive beige-like anchor protein gene DOID:10487 Hirschsprung's disease ISO RGD:1322886 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868|PMID:28492532 11778918 LRBA LPS responsive beige-like anchor protein gene DOID:2843 long QT syndrome ISO RGD:1322886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11778918 LRBA LPS responsive beige-like anchor protein gene DOID:5419 schizophrenia ISO RGD:1322886 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11778918 LRBA LPS responsive beige-like anchor protein gene DOID:612 primary immunodeficiency disease ISO RGD:1322886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868|PMID:26206937|PMID:26768763|PMID:28492532|PMID:32499645 11778918 LRBA LPS responsive beige-like anchor protein gene DOID:630 genetic disease ISO RGD:1322886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28166811|PMID:28473463|PMID:28492532|PMID:31432443|PMID:34093558 11778918 LRBA LPS responsive beige-like anchor protein gene DOID:9004286 Hirschsprung Disease 1 ISO RGD:1322886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirschsprung disease 1 PMID:25741868|PMID:28492532 11778980 SLC25A20 solute carrier family 25 member 20 gene DOID:0060041 autism spectrum disorder ISO RGD:732535 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11778980 SLC25A20 solute carrier family 25 member 20 gene DOID:0111585 carnitine-acylcarnitine translocase deficiency ISO RGD:732535 D RGD:7240710 20180130 OMIM 11778980 SLC25A20 solute carrier family 25 member 20 gene DOID:0111585 carnitine-acylcarnitine translocase deficiency ISO RGD:732535 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency PMID:10384384|PMID:10697964|PMID:11162577|PMID:11350184|PMID:11592821|PMID:12559850|PMID:12801121|PMID:12859414|PMID:15057979|PMID:15365988|PMID:1598097|PMID:16199547|PMID:16919490|PMID:17277394|PMID:17576681|PMID:21605995|PMID:22020112|PMID:24088670|PMID:25032985|PMID:25459972|PMID:25614308|PMID:25741868|PMID:26238931|PMID:27066551|PMID:28492532|PMID:31319225|PMID:31589614|PMID:32340404|PMID:33634872|PMID:5365988|PMID:9399886|PMID:9536098|PMID:9686371 11778980 SLC25A20 solute carrier family 25 member 20 gene DOID:630 genetic disease ISO RGD:732535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11778980 SLC25A20 solute carrier family 25 member 20 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:732535 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11778980 SLC25A20 solute carrier family 25 member 20 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:732535 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11778993 ARHGAP15 Rho GTPase activating protein 15 gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1348610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 11778993 ARHGAP15 Rho GTPase activating protein 15 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1348610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:21981781|PMID:23632792 11778993 ARHGAP15 Rho GTPase activating protein 15 gene DOID:630 genetic disease ISO RGD:1348610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779011 GNL1 G protein nucleolar 1 (putative) gene DOID:11372 megacolon ISO RGD:1352530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11779011 GNL1 G protein nucleolar 1 (putative) gene DOID:630 genetic disease ISO RGD:1352530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779027 MAN2A2 mannosidase alpha class 2A member 2 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1321024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 11779027 MAN2A2 mannosidase alpha class 2A member 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1321024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 11779027 MAN2A2 mannosidase alpha class 2A member 2 gene DOID:2717 Bloom syndrome ISO RGD:1321024 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11779027 MAN2A2 mannosidase alpha class 2A member 2 gene DOID:630 genetic disease ISO RGD:1321024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779054 LCE3A late cornified envelope 3A gene DOID:0111940 immunodeficiency 42 ISO RGD:1348988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11779054 LCE3A late cornified envelope 3A gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1348988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11779054 LCE3A late cornified envelope 3A gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1348988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11779054 LCE3A late cornified envelope 3A gene DOID:1540 parathyroid carcinoma ISO RGD:1348988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11779054 LCE3A late cornified envelope 3A gene DOID:5812 MHC class II deficiency ISO RGD:1348988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11779054 LCE3A late cornified envelope 3A gene DOID:630 genetic disease ISO RGD:1348988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779054 LCE3A late cornified envelope 3A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11779057 FBXO27 F-box protein 27 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1343305 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11779057 FBXO27 F-box protein 27 gene DOID:630 genetic disease ISO RGD:1343305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779057 FBXO27 F-box protein 27 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343305 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11779066 LONP2 lon peptidase 2, peroxisomal gene DOID:10283 prostate cancer ISO RGD:1605609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11779066 LONP2 lon peptidase 2, peroxisomal gene DOID:630 genetic disease ISO RGD:1605609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779066 LONP2 lon peptidase 2, peroxisomal gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32430360 11779066 LONP2 lon peptidase 2, peroxisomal gene DOID:9006459 BURATTI-HAREL SYNDROME ISO RGD:1605609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Buratti-Harel syndrome PMID:25741868|PMID:32430360 11779066 LONP2 lon peptidase 2, peroxisomal gene DOID:9008342 Johnson Munson Syndrome ISO RGD:1605609 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aphalangy of the hands and feet, hemivertebrae, and visceral malformations PMID:25741868 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:0060180 colitis ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15821759 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:0080821 exercise-induced bronchoconstriction ISO RGD:732775 D RGD:9068941 20200609 RGD PMID:10984370|REF_RGD_ID:4890423 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:10247 pleurisy ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:9109363|REF_RGD_ID:4890429 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:10459 common cold ISO RGD:732775 D RGD:9068941 20200609 RGD protein:increased expression:bronchus PMID:11865407|REF_RGD_ID:4890421 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:10762 portal hypertension ISO RGD:2096 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis, Experimental PMID:11832453|REF_RGD_ID:1626153 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:10763 hypertension ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:16331105|REF_RGD_ID:1626151 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:11396 pulmonary edema ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:8111595|REF_RGD_ID:4890432 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:11664 nephrosclerosis ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:1184 nephrotic syndrome ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:19194550|REF_RGD_ID:2317535 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:14319 pleuropneumonia ISO RGD:10147 D RGD:9068941 20200609 RGD PMID:12773506|REF_RGD_ID:4890419 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:1555 urticaria ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:1793 pancreatic cancer ISO RGD:732775 D RGD:9068941 20200609 RGD PMID:12481414|REF_RGD_ID:2317523 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:1793 pancreatic cancer ISO RGD:732775 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:12163367|REF_RGD_ID:2317524 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:1936 atherosclerosis ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16698924 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:2316 brain ischemia ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:20204486|REF_RGD_ID:2317525 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:2349 arteriosclerosis ISO RGD:732775 D RGD:9068941 20200609 RGD PMID:14702425|REF_RGD_ID:734559 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:2841 asthma ISO RGD:732775 D RGD:7240710 20230505 OMIM 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:2841 asthma no_association ISO RGD:732775 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter (human) PMID:12911785|PMID:20128419|REF_RGD_ID:4890407|REF_RGD_ID:5147465 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:2841 asthma severity ISO RGD:732775 D RGD:9068941 20200609 RGD DNA:repeat:promoter (human) PMID:16364163|REF_RGD_ID:4890415 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:2841 asthma treatment ISO RGD:732775 D RGD:9068941 20200609 RGD PMID:10369259|REF_RGD_ID:734557 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:732775 D RGD:9068941 20200609 RGD DNA:polymorphism, repeat:promoter, exon:g.760G>A (human) PMID:18174194|REF_RGD_ID:4890411 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:299 adenocarcinoma ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:3007 breast ductal carcinoma ISO RGD:732775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:3021 acute kidney failure ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:19194548|REF_RGD_ID:2317536 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:3525 middle cerebral artery infarction ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19309543 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:3627 aortic aneurysm ISO RGD:10147 D RGD:9068941 20200609 RGD PMID:17182931|REF_RGD_ID:1626150 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:3770 pulmonary fibrosis ISO RGD:732775 D RGD:9068941 20200609 RGD protein:altered localization:alveolar macrophage, nuclear membrane PMID:8621765|REF_RGD_ID:4890430 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:3910 lung adenocarcinoma ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:4450 renal cell carcinoma ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:4905 pancreatic carcinoma ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:4947 cholangiocarcinoma ISO RGD:732775 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:18507031|REF_RGD_ID:2317521 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:630 genetic disease ISO RGD:732775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:6432 pulmonary hypertension ISO RGD:14981588 D RGD:9068941 20200609 RGD PMID:31462075|REF_RGD_ID:14975304 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:6432 pulmonary hypertension ISO RGD:14981589 D RGD:9068941 20200609 RGD PMID:31462075|REF_RGD_ID:14975304 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:6432 pulmonary hypertension ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:14726295|PMID:8647941|REF_RGD_ID:4890418|REF_RGD_ID:734558 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:6432 pulmonary hypertension ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14726295 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:6432 pulmonary hypertension ISO RGD:732775 D RGD:9068941 20200609 RGD protein:increased expression:artery PMID:9445303|REF_RGD_ID:1626154 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:6432 pulmonary hypertension ISO RGD:735373 D RGD:9068941 20200609 RGD PMID:31462075|REF_RGD_ID:14975304 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:6432 pulmonary hypertension treatment ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:31462075|REF_RGD_ID:14975304 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:657 adenoma ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18927292 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:7148 rheumatoid arthritis ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:850 lung disease ISO RGD:10147 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:17118201|REF_RGD_ID:4890414 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:850 lung disease ISO RGD:10147 D RGD:9068941 20200609 RGD Ventilator-Induced Lung Injury PMID:15894604|REF_RGD_ID:4890417 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:8552 chronic myeloid leukemia ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19503090|PMID:19823023 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:8719 in situ carcinoma ISO RGD:732775 D RGD:9068941 20200609 RGD PMID:16024599|REF_RGD_ID:2317522 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:9000076 Closed Fractures ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19544365 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:9000217 Stomach Neoplasms ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20061081 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:9000641 Pain ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:19580807|REF_RGD_ID:2317533 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:9000965 Neoplasm Metastasis ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20061081 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:10147 D RGD:9068941 20200609 RGD PMID:20231413|REF_RGD_ID:4890435 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:9002211 Hyperalgesia ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12582831 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:9002304 Prostatic Neoplasms ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:9002589 Bone Fractures ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:19884440|REF_RGD_ID:2317529 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:9002762 Ovarian Neoplasms ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:9002906 Multiple Organ Failure ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15241586 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:9002928 Colonic Neoplasms ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14569062|PMID:18927292|PMID:30258081 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:9004009 Reperfusion Injury ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:19816089|REF_RGD_ID:2317531 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:9004009 Reperfusion Injury ISO RGD:2096 D RGD:9068941 20200609 RGD protein:increased expression:cerebral hemisphere PMID:14769366|REF_RGD_ID:1626152 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:9004009 Reperfusion Injury ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15266012 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:9004271 Colonic Polyps ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18927292 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20061081 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:9005236 Drug Eruptions ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:9005372 Inflammation ISO RGD:10147 D RGD:9068941 20200609 RGD PMID:1386887|REF_RGD_ID:4890433 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:9005372 Inflammation ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:1386887|REF_RGD_ID:4890433 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:9005930 Endotoxemia ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15328337 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:9007480 Hyperoxia ISO RGD:2096 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:12490039|REF_RGD_ID:4890420 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:20011686|REF_RGD_ID:2317527 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:732775 D RGD:9068941 20200609 RGD PMID:16677242|REF_RGD_ID:5147463 11779086 ALOX5 arachidonate 5-lipoxygenase gene DOID:9008604 Radiation Pneumonitis ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:1886988|REF_RGD_ID:4890434 11779104 LGI3 leucine rich repeat LGI family member 3 gene DOID:630 genetic disease ISO RGD:1322345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779104 LGI3 leucine rich repeat LGI family member 3 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1322345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 11779104 LGI3 leucine rich repeat LGI family member 3 gene DOID:9008164 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS ISO RGD:1322345 D RGD:7240710 20221214 OMIM 11779104 LGI3 leucine rich repeat LGI family member 3 gene DOID:9008164 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS ISO RGD:1322345 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects | ClinVar Annotator: match by term: Peripheral nerve hyperexcitability syndrome PMID:25741868|PMID:29269699|PMID:35948005 11779116 FAM170A family with sequence similarity 170 member A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602273 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11779116 FAM170A family with sequence similarity 170 member A gene DOID:630 genetic disease ISO RGD:1602273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779116 FAM170A family with sequence similarity 170 member A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11779116 FAM170A family with sequence similarity 170 member A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602273 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11779135 GNG4 G protein subunit gamma 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1353997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11779135 GNG4 G protein subunit gamma 4 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1353997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:28492532 11779135 GNG4 G protein subunit gamma 4 gene DOID:630 genetic disease ISO RGD:1353997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779135 GNG4 G protein subunit gamma 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11779143 EBLN1 endogenous Bornavirus like nucleoprotein 1 gene DOID:630 genetic disease ISO RGD:5132975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779147 KBTBD7 kelch repeat and BTB domain containing 7 gene DOID:13501 Moebius syndrome ISO RGD:1312909 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 11779147 KBTBD7 kelch repeat and BTB domain containing 7 gene DOID:630 genetic disease ISO RGD:1312909 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779152 LOC100982707 olfactory receptor 4K14 gene DOID:630 genetic disease ISO RGD:1347325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779155 RASGRP1 RAS guanyl releasing protein 1 gene DOID:0111980 immunodeficiency 64 ISO RGD:69137 D RGD:7240710 20190904 OMIM 11779155 RASGRP1 RAS guanyl releasing protein 1 gene DOID:0111980 immunodeficiency 64 ISO RGD:69137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 64 PMID:25741868|PMID:27776107|PMID:28492532|PMID:28822832|PMID:29155103|PMID:29282224 11779155 RASGRP1 RAS guanyl releasing protein 1 gene DOID:2717 Bloom syndrome ISO RGD:69137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11779155 RASGRP1 RAS guanyl releasing protein 1 gene DOID:289 endometriosis ISO RGD:69137 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11779155 RASGRP1 RAS guanyl releasing protein 1 gene DOID:5419 schizophrenia ISO RGD:69137 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11779155 RASGRP1 RAS guanyl releasing protein 1 gene DOID:630 genetic disease ISO RGD:69137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11779155 RASGRP1 RAS guanyl releasing protein 1 gene DOID:7148 rheumatoid arthritis ISO RGD:69137 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 11779155 RASGRP1 RAS guanyl releasing protein 1 gene DOID:9007799 Legius Syndrome ISO RGD:69137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Legius syndrome PMID:21548021|PMID:22753041|PMID:28492532 11779155 RASGRP1 RAS guanyl releasing protein 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:69137 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26808113 11779155 RASGRP1 RAS guanyl releasing protein 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:69138 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 11779155 RASGRP1 RAS guanyl releasing protein 1 gene DOID:9119 acute myeloid leukemia ISO RGD:69137 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21441929 11779155 RASGRP1 RAS guanyl releasing protein 1 gene DOID:9256 colorectal cancer ISO RGD:69137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11779181 PLS3 plastin 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11779181 PLS3 plastin 3 gene DOID:11476 osteoporosis ISO RGD:731591 D RGD:7240710 20181003 OMIM 11779181 PLS3 plastin 3 gene DOID:11476 osteoporosis ISO RGD:731591 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 PMID:16199547|PMID:17576681|PMID:24088041|PMID:24088043|PMID:25741868|PMID:26633545|PMID:28492532|PMID:30405713|PMID:33166085|PMID:9536098 11779181 PLS3 plastin 3 gene DOID:12347 osteogenesis imperfecta ISO RGD:731591 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:24088043|PMID:25741868|PMID:28492532 11779181 PLS3 plastin 3 gene DOID:12849 autistic disorder ISO RGD:731591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11779181 PLS3 plastin 3 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:731591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia 11779181 PLS3 plastin 3 gene DOID:630 genetic disease ISO RGD:731591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779181 PLS3 plastin 3 gene DOID:8398 osteoarthritis ISO RGD:731591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11779181 PLS3 plastin 3 gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:731591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Postmenopausal osteoporosis PMID:25741868 11779181 PLS3 plastin 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11779204 RPL14 ribosomal protein L14 gene DOID:14330 Parkinson's disease ISO RGD:733020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18353766 11779204 RPL14 ribosomal protein L14 gene DOID:4450 renal cell carcinoma ISO RGD:733020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 11779204 RPL14 ribosomal protein L14 gene DOID:630 genetic disease ISO RGD:733020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779204 RPL14 ribosomal protein L14 gene DOID:9074 systemic lupus erythematosus ISO RGD:733020 D RGD:9068941 20200609 RGD PMID:12051391|REF_RGD_ID:11036103 11779220 RPS19BP1 ribosomal protein S19 binding protein 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1602664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11779220 RPS19BP1 ribosomal protein S19 binding protein 1 gene DOID:630 genetic disease ISO RGD:1602664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779228 TDRD3 tudor domain containing 3 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1320851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11779228 TDRD3 tudor domain containing 3 gene DOID:630 genetic disease ISO RGD:1320851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779268 FBN1 fibrillin 1 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:10766875|PMID:11175294|PMID:16596670|PMID:1729284|PMID:17324963|PMID:21784848|PMID:24199744|PMID:26796135|PMID:27914124|PMID:28492532|PMID:7611299|PMID:8880577|PMID:8882780 11779268 FBN1 fibrillin 1 gene DOID:0050473 Alstrom syndrome ISO RGD:731577 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Alstrom's syndrome PMID:17657824|PMID:19293843|PMID:25741868|PMID:28492532 11779268 FBN1 fibrillin 1 gene DOID:0050475 Weill-Marchesani syndrome ISO RGD:731577 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome PMID:10189222|PMID:10198291|PMID:10464652|PMID:10533071|PMID:10633129|PMID:10679954|PMID:10694921|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11875032|PMID:11933199|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12525539|PMID:12651868|PMID:12938084|PMID:14598350|PMID:14695540|PMID:15241795|PMID:15598221|PMID:16061422|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16571647|PMID:16835936|PMID:17253931|PMID:17418587|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17701892|PMID:18435798|PMID:19012347|PMID:19059503|PMID:19161152|PMID:19293843|PMID:19370756|PMID:19396033|PMID:19839986|PMID:20200614|PMID:20301510|PMID:20375004|PMID:20591885|PMID:20979188|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21883168|PMID:21895641|PMID:22772377|PMID:23133647|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23897642|PMID:24033266|PMID:24039054|PMID:24055113|PMID:24311428|PMID:24564502|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25101912|PMID:25203624|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25637381|PMID:25652356|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25944730|PMID:25979247|PMID:26026792|PMID:26188975|PMID:26272055|PMID:26332594|PMID:26333736|PMID:26621581|PMID:26684006|PMID:26764160|PMID:26787436|PMID:26875674|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27274304|PMID:27582083|PMID:27906200|PMID:27959697|PMID:28254189|PMID:28492532|PMID:28550590|PMID:28650953|PMID:28655553|PMID:29168297|PMID:29357934|PMID:29543232|PMID:29907982|PMID:31008308|PMID:31211626|PMID:31227806|PMID:31322791|PMID:31506931|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32938213|PMID:3536967|PMID:7738200|PMID:7870075|PMID:8281141|PMID:8430317|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8941093|PMID:8988160|PMID:9150726|PMID:9338588|PMID:9399842|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 11779268 FBN1 fibrillin 1 gene DOID:0050851 glomerulosclerosis ISO RGD:731578 D RGD:9068941 20200609 RGD associated with Hypertension PMID:16380460|REF_RGD_ID:7365080 11779268 FBN1 fibrillin 1 gene DOID:0060218 CREST syndrome ISO RGD:731577 D RGD:9068941 20200609 RGD PMID:10395706|REF_RGD_ID:12910471 11779268 FBN1 fibrillin 1 gene DOID:0060249 scoliosis ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital scoliosis | ClinVar Annotator: match by term: Scoliosis PMID:10464652|PMID:11700157|PMID:11933199|PMID:12203987|PMID:12203992|PMID:12938084|PMID:14695540|PMID:15241795|PMID:17627385|PMID:17657824|PMID:19159394|PMID:19293843|PMID:20301510|PMID:21907952|PMID:24033266|PMID:24161884|PMID:24833718|PMID:25741868|PMID:25907466|PMID:26333736|PMID:26787436|PMID:27146836|PMID:27274304|PMID:27611364|PMID:27724990|PMID:28492532|PMID:28855619|PMID:29357934|PMID:30311386|PMID:30675029|PMID:30739908|PMID:31098894|PMID:31211626|PMID:31751304|PMID:31950671|PMID:32679894|PMID:34498425 11779268 FBN1 fibrillin 1 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10647894|PMID:10756346|PMID:10874320|PMID:10942427|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11524736|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11826022|PMID:11880731|PMID:11933199|PMID:11967553|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12700307|PMID:12938084|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15161917|PMID:15241795|PMID:15583982|PMID:1569206|PMID:15733436|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16677079|PMID:16756980|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19446531|PMID:19533785|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20564469|PMID:20886638|PMID:21034599|PMID:21332468|PMID:21542060|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22262941|PMID:22393277|PMID:22539873|PMID:22772377|PMID:22913777|PMID:23684891|PMID:23719250|PMID:23744319|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24635535|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25525159|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25741868|PMID:25907466|PMID:25944730|PMID:26133393|PMID:26272055|PMID:26333736|PMID:26621581|PMID:26770496|PMID:26787436|PMID:26899731|PMID:27112580|PMID:27146836|PMID:27175573|PMID:27234404|PMID:27353645|PMID:27611364|PMID:27724990|PMID:27906200|PMID:28117189|PMID:28391405|PMID:28492532|PMID:28539832|PMID:28650953|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29543232|PMID:29848614|PMID:29907982|PMID:30341550|PMID:30371227|PMID:30675029|PMID:30739908|PMID:31098894|PMID:31211624|PMID:31211626|PMID:31751304|PMID:31830381|PMID:32679894|PMID:33483584|PMID:33711475|PMID:34498425|PMID:3495735|PMID:4750422|PMID:7611299|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8406497|PMID:8541880|PMID:8791520|PMID:8894692|PMID:8941093|PMID:9241263|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9536098|PMID:9837823 11779268 FBN1 fibrillin 1 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:731577 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10647894|PMID:10756346|PMID:10874320|PMID:10942427|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11826022|PMID:11880731|PMID:11933199|PMID:11967553|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12700307|PMID:12938084|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15583982|PMID:1569206|PMID:15733436|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16756980|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19446531|PMID:19533785|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20564469|PMID:20886638|PMID:21034599|PMID:21332468|PMID:21542060|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22262941|PMID:22393277|PMID:22539873|PMID:22772377|PMID:22913777|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24635535|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25525159|PMID:25652356|PMID:25656438|PMID:25741868|PMID:25907466|PMID:25944730|PMID:26133393|PMID:26272055|PMID:26333736|PMID:26621581|PMID:26770496|PMID:26787436|PMID:26899731|PMID:27112580|PMID:27146836|PMID:27175573|PMID:27353645|PMID:27611364|PMID:27724990|PMID:27906200|PMID:28117189|PMID:28391405|PMID:28492532|PMID:28539832|PMID:28650953|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29543232|PMID:29848614|PMID:29907982|PMID:30192042|PMID:30341550|PMID:30371227|PMID:30675029|PMID:30739908|PMID:31098894|PMID:31211624|PMID:31211626|PMID:31751304|PMID:31830381|PMID:32679894|PMID:33483584|PMID:33711475|PMID:34456093|PMID:34498425|PMID:7611299|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8406497|PMID:8541880|PMID:8791520|PMID:8894692|PMID:8941093|PMID:9241263|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9536098|PMID:9837823 11779268 FBN1 fibrillin 1 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:731577 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10647894|PMID:10756346|PMID:10874320|PMID:10942427|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11524736|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11826022|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15583982|PMID:1569206|PMID:15733436|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16756980|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20564469|PMID:20591885|PMID:20886638|PMID:21034599|PMID:21332468|PMID:21542060|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22262941|PMID:22393277|PMID:22539873|PMID:22772377|PMID:22913777|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24635535|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25525159|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25741868|PMID:25907466|PMID:25944730|PMID:26133393|PMID:26272055|PMID:26333736|PMID:26410935|PMID:26621581|PMID:26770496|PMID:26787436|PMID:26899731|PMID:27112580|PMID:27146836|PMID:27175573|PMID:27353645|PMID:27611364|PMID:27724990|PMID:27906200|PMID:28117189|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28650953|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29543232|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30192042|PMID:30341550|PMID:30371227|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31098894|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31536524|PMID:31730815|PMID:31751304|PMID:31825148|PMID:31830381|PMID:32679894|PMID:32989268|PMID:33200202|PMID:33483584|PMID:33711475|PMID:34150014|PMID:34456093|PMID:34498425|PMID:34550612|PMID:35237611|PMID:4750422|PMID:7611299|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8406497|PMID:8541880|PMID:8791520|PMID:8894692|PMID:8941093|PMID:9241263|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9536098|PMID:9837823 11779268 FBN1 fibrillin 1 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:731577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10647894|PMID:10756346|PMID:10874320|PMID:10942427|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11524736|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11826022|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15583982|PMID:1569206|PMID:15733436|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16756980|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:20564469|PMID:20591885|PMID:20886638|PMID:21034599|PMID:21332468|PMID:21542060|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22262941|PMID:22393277|PMID:22539873|PMID:22772377|PMID:22913777|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24635535|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25525159|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25741868|PMID:25907466|PMID:25944730|PMID:26133393|PMID:26272055|PMID:26333736|PMID:26410935|PMID:26621581|PMID:26770496|PMID:26787436|PMID:26899731|PMID:27112580|PMID:27146836|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27611364|PMID:27724990|PMID:27906200|PMID:28117189|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28642162|PMID:28650953|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29543232|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30341550|PMID:30371227|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31098894|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31536524|PMID:31730815|PMID:31751304|PMID:31825148|PMID:31830381|PMID:31950671|PMID:32679894|PMID:32989268|PMID:33200202|PMID:33483584|PMID:33711475|PMID:34150014|PMID:34456093|PMID:34498425|PMID:34550612|PMID:35237611|PMID:4750422|PMID:7611299|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8406497|PMID:8541880|PMID:8791520|PMID:8894692|PMID:8941093|PMID:9241263|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9536098|PMID:9837823 11779268 FBN1 fibrillin 1 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:731577 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10647894|PMID:10756346|PMID:10874320|PMID:10942427|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11524736|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11826022|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15583982|PMID:1569206|PMID:15733436|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16756980|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:20564469|PMID:20591885|PMID:20886638|PMID:21034599|PMID:21332468|PMID:21542060|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22262941|PMID:22393277|PMID:22539873|PMID:22772377|PMID:22913777|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24635535|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25525159|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25741868|PMID:25907466|PMID:25944730|PMID:26133393|PMID:26272055|PMID:26333736|PMID:26410935|PMID:26621581|PMID:26770496|PMID:26787436|PMID:26899731|PMID:27112580|PMID:27146836|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27611364|PMID:27724990|PMID:27906200|PMID:28117189|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28642162|PMID:28650953|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29543232|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30341550|PMID:30371227|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31098894|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31536524|PMID:31730815|PMID:31751304|PMID:31825148|PMID:31830381|PMID:31950671|PMID:32679894|PMID:32989268|PMID:33200202|PMID:33483584|PMID:33711475|PMID:34140103|PMID:34150014|PMID:34281902|PMID:34456093|PMID:34498425|PMID:34550612|PMID:35237611|PMID:4750422|PMID:7611299|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8406497|PMID:8541880|PMID:8791520|PMID:8894692|PMID:8941093|PMID:9241263|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9536098|PMID:9837823 11779268 FBN1 fibrillin 1 gene DOID:0080685 aortic dissection ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute aortic dissection | ClinVar Annotator: match by term: Aortic dissection PMID:10633129|PMID:11143906|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11933199|PMID:12203987|PMID:12446365|PMID:12938084|PMID:14695540|PMID:15054843|PMID:15241795|PMID:16222657|PMID:16971892|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17679947|PMID:18087243|PMID:18435798|PMID:18615205|PMID:19089573|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19618372|PMID:19839986|PMID:19863550|PMID:20082464|PMID:21542060|PMID:21895641|PMID:21932315|PMID:22772377|PMID:23506379|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24793577|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25637381|PMID:25741868|PMID:25812041|PMID:25907466|PMID:25944730|PMID:26272055|PMID:26621581|PMID:26787436|PMID:27112580|PMID:27153395|PMID:27582083|PMID:28492532|PMID:28655553|PMID:28659821|PMID:29357934|PMID:29543232|PMID:30371227|PMID:31227806|PMID:8040326|PMID:8541880|PMID:8791520|PMID:9399842|PMID:9401003|PMID:9452085 11779268 FBN1 fibrillin 1 gene DOID:0110218 Brugada syndrome 1 ISO RGD:731577 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:19012347|PMID:19159394|PMID:25741868|PMID:27611364|PMID:28973303 11779268 FBN1 fibrillin 1 gene DOID:0111148 isolated ectopia lentis ISO RGD:731577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial ectopia lentis PMID:11700157|PMID:11826022|PMID:12203987|PMID:12203992|PMID:12446365|PMID:12938084|PMID:14695540|PMID:15054843|PMID:15980072|PMID:16342915|PMID:16765689|PMID:16971892|PMID:17242066|PMID:17657824|PMID:17679947|PMID:17701892|PMID:18079676|PMID:18087243|PMID:18615205|PMID:19293843|PMID:19353630|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20699357|PMID:21895641|PMID:22772377|PMID:22950452|PMID:24033266|PMID:24161884|PMID:25053872|PMID:25741868|PMID:25944730|PMID:27274304|PMID:27611364|PMID:28492532|PMID:29357934|PMID:30675029|PMID:30838813|PMID:31950671|PMID:32123317|PMID:32404357|PMID:32679894|PMID:34281902|PMID:34663891|PMID:34818515|PMID:7802039|PMID:9399842 11779268 FBN1 fibrillin 1 gene DOID:0111150 autosomal dominant isolated ectopia lentis 1 ISO RGD:731577 D RGD:7240710 20180130 OMIM 11779268 FBN1 fibrillin 1 gene DOID:0111150 autosomal dominant isolated ectopia lentis 1 ISO RGD:731577 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant | ClinVar Annotator: match by term: Ectopia lentis, isolated, autosomal dominant PMID:10189222|PMID:10198291|PMID:10229672|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10679954|PMID:10694921|PMID:11068200|PMID:11139245|PMID:11143906|PMID:11175294|PMID:11315929|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11875032|PMID:11933199|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12938084|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15598221|PMID:15880509|PMID:15980072|PMID:15983637|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16571647|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:17242066|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18615205|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19533785|PMID:19618372|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22539873|PMID:22772377|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24311428|PMID:24564502|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26332594|PMID:26333736|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26684006|PMID:26764160|PMID:26787436|PMID:26875674|PMID:27058611|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27930701|PMID:27959697|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28254189|PMID:28301460|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28944857|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30056620|PMID:30057829|PMID:30341550|PMID:30513137|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31098894|PMID:31131229|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31322791|PMID:31506931|PMID:31605817|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31774634|PMID:31825148|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:33200202|PMID:33282382|PMID:33436942|PMID:33483584|PMID:33824467|PMID:34008892|PMID:34140103|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34818515|PMID:3536967|PMID:7738200|PMID:7802039|PMID:7870075|PMID:8004112|PMID:8040326|PMID:8136837|PMID:8188302|PMID:8281141|PMID:8430317|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8941093|PMID:8988160|PMID:9150726|PMID:9338581|PMID:9338588|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 11779268 FBN1 fibrillin 1 gene DOID:0111243 acromicric dysplasia ISO RGD:731577 D RGD:7240710 20180130 OMIM 11779268 FBN1 fibrillin 1 gene DOID:0111243 acromicric dysplasia ISO RGD:731577 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Acromicric dysplasia | ClinVar Annotator: match by term: Acromicric skeletal dysplasia PMID:10189222|PMID:10198291|PMID:10464652|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10679954|PMID:10694921|PMID:11068200|PMID:11143906|PMID:11175294|PMID:11315929|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11875032|PMID:11933199|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12938084|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15598221|PMID:15880509|PMID:15980072|PMID:16061422|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16571647|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:17242066|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:18079676|PMID:18087243|PMID:18435798|PMID:1852206|PMID:18615205|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19533785|PMID:19618372|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20200614|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22772377|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24311428|PMID:24339047|PMID:24564502|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26332594|PMID:26333736|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26684006|PMID:26764160|PMID:26787436|PMID:26875674|PMID:26928463|PMID:27058611|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28254189|PMID:28301460|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30056620|PMID:30057829|PMID:30341550|PMID:30513137|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31098894|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31774634|PMID:31825148|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:33082559|PMID:33282382|PMID:33436942|PMID:33483584|PMID:33824467|PMID:34008892|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34818515|PMID:3536967|PMID:7738200|PMID:7802039|PMID:7870075|PMID:8004112|PMID:8040326|PMID:8281141|PMID:8430317|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8941093|PMID:8988160|PMID:9150726|PMID:9338581|PMID:9338588|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 11779268 FBN1 fibrillin 1 gene DOID:0111353 arthrogryposis, renal dysfunction, and cholestasis 1 ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 PMID:25741868 11779268 FBN1 fibrillin 1 gene DOID:0111561 stiff skin syndrome ISO RGD:731577 D RGD:7240710 20180130 OMIM 11779268 FBN1 fibrillin 1 gene DOID:0111561 stiff skin syndrome ISO RGD:731577 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:10189222|PMID:10198291|PMID:10464652|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10679954|PMID:10694921|PMID:11068200|PMID:11143906|PMID:11175294|PMID:11315929|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11875032|PMID:11933199|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12938084|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15598221|PMID:15880509|PMID:15980072|PMID:16061422|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16571647|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:17242066|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:18079676|PMID:18087243|PMID:18435798|PMID:1852208|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19533785|PMID:19618372|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20200614|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22772377|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24311428|PMID:24564502|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26332594|PMID:26333736|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26684006|PMID:26764160|PMID:26787436|PMID:26875674|PMID:27058611|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27930701|PMID:27959697|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28254189|PMID:28301460|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30056620|PMID:30057829|PMID:30341550|PMID:30513137|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31098894|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31322791|PMID:31506931|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31774634|PMID:31825148|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:33282382|PMID:33436942|PMID:33483584|PMID:33824467|PMID:34008892|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34818515|PMID:3536967|PMID:7738200|PMID:7802039|PMID:7870075|PMID:8004112|PMID:8040326|PMID:8281141|PMID:8430317|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8941093|PMID:8988160|PMID:9150726|PMID:9338581|PMID:9338588|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 11779268 FBN1 fibrillin 1 gene DOID:0111724 geleophysic dysplasia ISO RGD:731577 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia PMID:10189222|PMID:10198291|PMID:10464652|PMID:10533071|PMID:10633129|PMID:10694921|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11875032|PMID:11933199|PMID:11992479|PMID:12161601|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12938084|PMID:14598350|PMID:14695540|PMID:15241795|PMID:15598221|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16571647|PMID:16835936|PMID:17253931|PMID:17418587|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17701892|PMID:18435798|PMID:19012347|PMID:19059503|PMID:19161152|PMID:19293843|PMID:19370756|PMID:19396033|PMID:19839986|PMID:20200614|PMID:20301510|PMID:20375004|PMID:20591885|PMID:20979188|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21883168|PMID:21895641|PMID:23133647|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23897642|PMID:24033266|PMID:24039054|PMID:24055113|PMID:24311428|PMID:24564502|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25101912|PMID:25203624|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25637381|PMID:25652356|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25944730|PMID:25979247|PMID:26026792|PMID:26188975|PMID:26272055|PMID:26332594|PMID:26333736|PMID:26621581|PMID:26684006|PMID:26764160|PMID:26787436|PMID:26875674|PMID:27146836|PMID:27153395|PMID:27245183|PMID:27274304|PMID:27582083|PMID:27906200|PMID:27959697|PMID:28254189|PMID:28492532|PMID:28497567|PMID:28650953|PMID:28655553|PMID:29168297|PMID:29357934|PMID:29543232|PMID:31008308|PMID:31211626|PMID:31227806|PMID:31322791|PMID:31506931|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32938213|PMID:3536967|PMID:7738200|PMID:7870075|PMID:8281141|PMID:8430317|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8941093|PMID:8988160|PMID:9150726|PMID:9338588|PMID:9399842|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 11779268 FBN1 fibrillin 1 gene DOID:0111726 geleophysic dysplasia 2 ISO RGD:731577 D RGD:7240710 20180130 OMIM 11779268 FBN1 fibrillin 1 gene DOID:0111726 geleophysic dysplasia 2 ISO RGD:731577 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 2 PMID:10464652|PMID:10533071|PMID:10612827|PMID:10633129|PMID:11068200|PMID:11143906|PMID:11175294|PMID:11315929|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11933199|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12938084|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15880509|PMID:15980072|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16571647|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:17242066|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:18079676|PMID:18087243|PMID:18435798|PMID:1852206|PMID:18615205|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19533785|PMID:19618372|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20699357|PMID:20886638|PMID:21542060|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22772377|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23608731|PMID:23684891|PMID:23719250|PMID:23794388|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25142510|PMID:25326635|PMID:25504618|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26333736|PMID:26380986|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26787436|PMID:26875674|PMID:27058611|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27234404|PMID:27245183|PMID:27274304|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28301460|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30056620|PMID:30057829|PMID:30341550|PMID:30513137|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31098894|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31774634|PMID:31825148|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32730690|PMID:32939518|PMID:33082559|PMID:33282382|PMID:33436942|PMID:33483584|PMID:33824467|PMID:34008892|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34818515|PMID:7802039|PMID:7870075|PMID:8004112|PMID:8040326|PMID:8541880|PMID:8653794|PMID:8723076|PMID:8791520|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9536098|PMID:9837823 11779268 FBN1 fibrillin 1 gene DOID:10487 Hirschsprung's disease ISO RGD:731577 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868|PMID:26559152|PMID:28492532 11779268 FBN1 fibrillin 1 gene DOID:10573 osteomalacia ISO RGD:731578 D RGD:9068941 20200609 RGD protein:increased expression:cortical bone, trabecular bone (mouse) PMID:11159866|REF_RGD_ID:7794797 11779268 FBN1 fibrillin 1 gene DOID:10763 hypertension ISO RGD:620908 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus (rat) PMID:16380460|REF_RGD_ID:7365080 11779268 FBN1 fibrillin 1 gene DOID:11111 hydronephrosis ISO RGD:731578 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction; protein:altered expression:kidney (mouse) PMID:15277214|REF_RGD_ID:7387264 11779268 FBN1 fibrillin 1 gene DOID:11364 lens subluxation ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lens subluxation PMID:10633129|PMID:11143906|PMID:11700157|PMID:11826022|PMID:12203987|PMID:12446365|PMID:12938084|PMID:15054843|PMID:15241795|PMID:16971892|PMID:17657824|PMID:17679947|PMID:18087243|PMID:18615205|PMID:19089573|PMID:19293843|PMID:19328768|PMID:19839986|PMID:21895641|PMID:21932315|PMID:22772377|PMID:24161884|PMID:24199744|PMID:25053872|PMID:25741868|PMID:28492532|PMID:8040326|PMID:8541880|PMID:8791520|PMID:9399842|PMID:9401003|PMID:9452085 11779268 FBN1 fibrillin 1 gene DOID:114 heart disease ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac disease PMID:25741868 11779268 FBN1 fibrillin 1 gene DOID:11476 osteoporosis ISO RGD:731577 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Osteoporosis PMID:25741868 11779268 FBN1 fibrillin 1 gene DOID:11502 mitral valve insufficiency ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitral regurgitation PMID:16571647|PMID:16905551|PMID:17657824|PMID:17701892|PMID:19293843|PMID:19349279|PMID:25741868|PMID:28492532 11779268 FBN1 fibrillin 1 gene DOID:11830 myopia ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868 11779268 FBN1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10189222|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11278305|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15821637|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16677079|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:1765782|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18310266|PMID:18435798|PMID:18471089|PMID:1852208|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19390640|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301500|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20979188|PMID:21135753|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24311428|PMID:24564502|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26332594|PMID:26333736|PMID:26410935|PMID:26498160|PMID:26621581|PMID:26684006|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27011056|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27353645|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28254189|PMID:28301460|PMID:28333917|PMID:28387797|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28636274|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29907982|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:31008308|PMID:31053375|PMID:31098894|PMID:31163209|PMID:31211626|PMID:31227806|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31837199|PMID:32123317|PMID:32679894|PMID:32938213|PMID:33174221 11779268 FBN1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:33436942|PMID:33711475|PMID:33735269|PMID:34008892|PMID:34498425|PMID:3495735|PMID:3536967|PMID:4750422|PMID:7611299|PMID:7738200|PMID:7762551|PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:8004112|PMID:8040326|PMID:8136837|PMID:8281141|PMID:8406497|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9525872|PMID:952872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 11779268 FBN1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10189222|PMID:10441597|PMID:10464652|PMID:10533071|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15821637|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18310266|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20979188|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22539873|PMID:22772377|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24311428|PMID:24564502|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26332594|PMID:26333736|PMID:26498160|PMID:26621581|PMID:26684006|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27087445|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27175573|PMID:27234404|PMID:27353645|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28611029|PMID:28636274|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29907982|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:31008308|PMID:31053375|PMID:31098894|PMID:31163209|PMID:31211626|PMID:31227806|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31589614|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31837199|PMID:32123317|PMID:32679894|PMID:32938213|PMID:33174221|PMID:33436942|PMID:33483584|PMID:33711475|PMID:33735269|PMID:34008892|PMID:34498425|PMID:3536967|PMID:7611299|PMID:7738200|PMID:7762551 11779268 FBN1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:8004112|PMID:8040326|PMID:8136837|PMID:8281141|PMID:8406497|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 11779268 FBN1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10189222|PMID:10441597|PMID:10464652|PMID:10533071|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15821637|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18310266|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20979188|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22539873|PMID:22772377|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24311428|PMID:24564502|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26332594|PMID:26333736|PMID:26498160|PMID:26621581|PMID:26684006|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27087445|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27175573|PMID:27234404|PMID:27353645|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28611029|PMID:28636274|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29907982|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:31008308|PMID:31020005|PMID:31053375|PMID:31098894|PMID:31163209|PMID:31211626|PMID:31227806|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31589614|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31837199|PMID:32123317|PMID:32679894|PMID:32938213|PMID:33174221|PMID:33436942|PMID:33483584|PMID:33711475|PMID:33735269|PMID:34008892|PMID:34498425|PMID:3536967 11779268 FBN1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:35535697|PMID:7611299|PMID:7738200|PMID:7762551|PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:8004112|PMID:8040326|PMID:8136837|PMID:8281141|PMID:8406497|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 11779268 FBN1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10189222|PMID:10441597|PMID:10464652|PMID:10533071|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15821637|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18310266|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20979188|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22539873|PMID:22772377|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24311428|PMID:24564502|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26332594|PMID:26333736|PMID:26498160|PMID:26621581|PMID:26684006|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27087445|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27175573|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28611029|PMID:28636274|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29907982|PMID:30192042|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:31008308|PMID:31020005|PMID:31053375|PMID:31098894|PMID:31163209|PMID:31211626|PMID:31227806|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31589614|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31837199|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32938213|PMID:33174221|PMID:33436942|PMID:33483584|PMID:33711475 11779268 FBN1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:33735269|PMID:34008892|PMID:34498425|PMID:3536967|PMID:35535697|PMID:7611299|PMID:7738200|PMID:7762551|PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:8004112|PMID:8040326|PMID:8136837|PMID:8281141|PMID:8406497|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 11779268 FBN1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10189222|PMID:10198291|PMID:10229672|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11071382|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:1438159|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15743917|PMID:15821637|PMID:15880509|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17024364|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17850668|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18354149|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19336958|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:2030732|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21332468|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22001912|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22438950|PMID:22539873|PMID:22772377|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23142374|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24078565|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24501682|PMID:24504995|PMID:24564502|PMID:24568996|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24698609|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:24982166|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26040324|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26410935|PMID:26498160|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26899731|PMID:26928463|PMID:27058611|PMID:27087445|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27175573|PMID:27234404|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27558095|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28152038|PMID:28166811|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590 11779268 FBN1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30019023|PMID:30087447|PMID:30115950|PMID:30192042|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30485715|PMID:30513137|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31708711|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31825148|PMID:31830381|PMID:31837199|PMID:31950671|PMID:32123317|PMID:32381728|PMID:32431097|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:32989268|PMID:33059708|PMID:33174221|PMID:33200202|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34150014|PMID:34498425|PMID:34550612|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:7606779|PMID:7611299|PMID:7738200|PMID:7762551|PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8136837|PMID:8188302|PMID:8281141|PMID:8406497|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 11779268 FBN1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10189222|PMID:10198291|PMID:10229672|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11071382|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:1438159|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15743917|PMID:15821637|PMID:15880509|PMID:15980072|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17024364|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18354149|PMID:18435798|PMID:18471089|PMID:1852208|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19336958|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19390640|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:2030732|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21135753|PMID:21270786|PMID:21332468|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22001912|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22438950|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22876116|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23142374|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24078565|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24501682|PMID:24504995|PMID:24564502|PMID:24568996|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24698609|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:24982166|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25974703|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26040324|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26410935|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26899731|PMID:26928463|PMID:27011056|PMID:27058611|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27558095|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697 11779268 FBN1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28152038|PMID:28254189|PMID:28277377|PMID:28301460|PMID:28333917|PMID:28387797|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28944857|PMID:28973303|PMID:28991257|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30019023|PMID:30056620|PMID:30057829|PMID:30087447|PMID:30115950|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30485715|PMID:30513137|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31471346|PMID:31506931|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31708711|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31774634|PMID:31825148|PMID:31830381|PMID:31837199|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32381728|PMID:32431097|PMID:32531870|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:32989268|PMID:33030311|PMID:33059708|PMID:33174221|PMID:33200202|PMID:33230159|PMID:33282382|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34140103|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34550612|PMID:34818515|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:7606779|PMID:7611299|PMID:7738200|PMID:7762551|PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8136837|PMID:8188302|PMID:8281141|PMID:8406497|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:952872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 11779268 FBN1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10189222|PMID:10198291|PMID:10229672|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11071382|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:1438159|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15743917|PMID:15821637|PMID:15880509|PMID:15980072|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17024364|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18354149|PMID:18435798|PMID:18471089|PMID:1852208|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19336958|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19390640|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:2030732|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21135753|PMID:21332468|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22001912|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22438950|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22876116|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23142374|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24078565|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24501682|PMID:24504995|PMID:24564502|PMID:24568996|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24698609|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:24982166|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26040324|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26410935|PMID:26423924|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26899731|PMID:26928463|PMID:27011056|PMID:27058611|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27558095|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697 11779268 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:7240710 20180130 OMIM 11779268 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:10090557|PMID:10189222|PMID:10364683|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:10930463|PMID:10942427|PMID:11059536|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11453977|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11706995|PMID:11710961|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12130534|PMID:12130535|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12413333|PMID:12446365|PMID:12511552|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14598350|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15287423|PMID:15583982|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15821637|PMID:15880509|PMID:15980072|PMID:15983637|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:1631074|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17027361|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17366579|PMID:17418587|PMID:17449467|PMID:17492313|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18310266|PMID:18379569|PMID:18412115|PMID:18435798|PMID:1852206|PMID:1852208|PMID:18615205|PMID:18795226|PMID:18925407|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:1929384|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19763152|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20307669|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21063442|PMID:21332468|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22034023|PMID:22140025|PMID:22216297|PMID:22262941|PMID:22393277|PMID:22406018|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24339047|PMID:24501682|PMID:24564502|PMID:24610719|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24759409|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25447171|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25613431|PMID:25636182|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25652356|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26332594|PMID:26333736|PMID:26380986|PMID:26498160|PMID:26621581|PMID:26684006|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27087445|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27175573|PMID:27234404|PMID:27245183|PMID:27353645|PMID:27437668|PMID:27479044|PMID:27527004|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27935852 11779268 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:27959697|PMID:28027854|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28168077|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28391405|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28636274|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30048161|PMID:30056620|PMID:30087447|PMID:30101859|PMID:30255099|PMID:30286810|PMID:30341550|PMID:30371227|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:31008308|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31589614|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31830381|PMID:32123317|PMID:32679894|PMID:32938213|PMID:33174221|PMID:33436942|PMID:33483584|PMID:33735269|PMID:34008892|PMID:34498425|PMID:3536967|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 11779268 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28168077|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28391405|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28636274|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30048161|PMID:30056620|PMID:30087447|PMID:30101859|PMID:30255099|PMID:30286810|PMID:30341550|PMID:30371227|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:31008308|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31589614|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31830381|PMID:32123317|PMID:32679894|PMID:32938213|PMID:33174221|PMID:33436942|PMID:33483584|PMID:33735269|PMID:34008892|PMID:34498425|PMID:3536967|PMID:35535697|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 11779268 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:10090557|PMID:10189222|PMID:10364683|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:10930463|PMID:10942427|PMID:11059536|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11453977|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11706995|PMID:11710961|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12130534|PMID:12130535|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12413333|PMID:12446365|PMID:12511552|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14598350|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15287423|PMID:15583982|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15821637|PMID:15880509|PMID:15980072|PMID:15983637|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:1631074|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17027361|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17366579|PMID:17418587|PMID:17449467|PMID:17492313|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18310266|PMID:18379569|PMID:18412115|PMID:18435798|PMID:1852206|PMID:1852208|PMID:18615205|PMID:18795226|PMID:18925407|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:1929384|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19763152|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20307669|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21063442|PMID:21194821|PMID:21332468|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22034023|PMID:22140025|PMID:22216297|PMID:22262941|PMID:22393277|PMID:22406018|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24339047|PMID:24501682|PMID:24564502|PMID:24610719|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24759409|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25447171|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25613431|PMID:25636182|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25652356|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26332594|PMID:26333736|PMID:26380986|PMID:26498160|PMID:26621581|PMID:26684006|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27087445|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27175573|PMID:27234404|PMID:27245183|PMID:27353645|PMID:27437668|PMID:27479044|PMID:27527004|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701 11779268 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28168077|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28391405|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30048161|PMID:30056620|PMID:30087447|PMID:30101859|PMID:30255099|PMID:30286810|PMID:30341550|PMID:30371227|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:31008308|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31589614|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31830381|PMID:32123317|PMID:32679894|PMID:32938213|PMID:33174221|PMID:33436942|PMID:33483584|PMID:33735269|PMID:34008892|PMID:34498425|PMID:3536967|PMID:35535697|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 11779268 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:27914124|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28168077|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28391405|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30048161|PMID:30056620|PMID:30087447|PMID:30101859|PMID:30192042|PMID:30255099|PMID:30286810|PMID:30341550|PMID:30371227|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:31008308|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31589614|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31830381|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32938213|PMID:33174221|PMID:33436942|PMID:33483584|PMID:33711475|PMID:33735269|PMID:34008892|PMID:34498425|PMID:3536967|PMID:35535697|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 11779268 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:26928463|PMID:27058611|PMID:27087445|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27175573|PMID:27234404|PMID:27245183|PMID:27274304|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27527004|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28168077|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30019023|PMID:30048161|PMID:30056620|PMID:30087447|PMID:30101859|PMID:30192042|PMID:30255099|PMID:30286810|PMID:30341550|PMID:30371227|PMID:30485715|PMID:30513137|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31536524|PMID:31589614|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31825148|PMID:31830381|PMID:31950671|PMID:32123317|PMID:32404357|PMID:32431097|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:33059708|PMID:33174221|PMID:33200202|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33711475|PMID:33735269|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34150014|PMID:34498425|PMID:34550612|PMID:34663891|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 11779268 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:10090557|PMID:10189222|PMID:10198291|PMID:10229672|PMID:10364683|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:10930463|PMID:10942427|PMID:11059536|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11453977|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11706995|PMID:11710961|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12130534|PMID:12130535|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12413333|PMID:12446365|PMID:12511552|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14598350|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15287423|PMID:15583982|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15743917|PMID:15821637|PMID:15880509|PMID:15980072|PMID:15983637|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:1631074|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17024364|PMID:17027361|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17366579|PMID:17418587|PMID:17449467|PMID:17492313|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18354149|PMID:18379569|PMID:18412115|PMID:18435798|PMID:1852206|PMID:1852208|PMID:18615205|PMID:18795226|PMID:18925407|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:1929384|PMID:19293843|PMID:19328768|PMID:19336958|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19763152|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:2030732|PMID:20307669|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21063442|PMID:21194821|PMID:21332468|PMID:21360310|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22034023|PMID:22140025|PMID:22216297|PMID:22262941|PMID:22393277|PMID:22406018|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24078565|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24339047|PMID:24501682|PMID:24564502|PMID:24568996|PMID:24610719|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24698609|PMID:24740214|PMID:24759409|PMID:24793577|PMID:24833718|PMID:24941995|PMID:24982166|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25447171|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25613431|PMID:25636182|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25652356|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26380986|PMID:26410935|PMID:26498160|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674 11779268 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:26928463|PMID:27058611|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27175573|PMID:27234404|PMID:27245183|PMID:27274304|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27527004|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28168077|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28588436|PMID:28596305|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30019023|PMID:30048161|PMID:30056620|PMID:30087447|PMID:30101859|PMID:30255099|PMID:30286810|PMID:30293248|PMID:30341550|PMID:30371227|PMID:30485715|PMID:30513137|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31825148|PMID:31830381|PMID:31950671|PMID:32123317|PMID:32404357|PMID:32431097|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:33059708|PMID:33174221|PMID:33200202|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33711475|PMID:33735269|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34550612|PMID:34663891|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 11779268 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:10090557|PMID:10189089|PMID:10189222|PMID:10198291|PMID:10229672|PMID:10364683|PMID:10404462|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:10930463|PMID:10942427|PMID:11059536|PMID:11068200|PMID:11071382|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11453977|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11706995|PMID:11710961|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11810645|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12130534|PMID:12130535|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12413333|PMID:12446365|PMID:12511552|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14586646|PMID:14598350|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15264290|PMID:15287423|PMID:15371449|PMID:15583982|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15743917|PMID:15770129|PMID:15821637|PMID:15880509|PMID:15980072|PMID:15983637|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16222666|PMID:16273536|PMID:1631074|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17024364|PMID:17027361|PMID:17209430|PMID:17224687|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17366579|PMID:17418587|PMID:17449467|PMID:17492313|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:17984934|PMID:18079676|PMID:18087243|PMID:18354149|PMID:18379569|PMID:18412115|PMID:18435798|PMID:18471089|PMID:1852206|PMID:1852208|PMID:18615205|PMID:18795226|PMID:18925407|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:1929384|PMID:19293843|PMID:19293848|PMID:19328768|PMID:19336958|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19390640|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19763152|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20085885|PMID:20200614|PMID:20301510|PMID:2030732|PMID:20307669|PMID:20375004|PMID:20538085|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20803651|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21063442|PMID:21135753|PMID:21194821|PMID:21332468|PMID:21360310|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22034023|PMID:22140025|PMID:22144684|PMID:2219643|PMID:22216297|PMID:22262941|PMID:22393277|PMID:22406018|PMID:22539340|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22876116|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23141514|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23592911|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24078565|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24339047|PMID:24501682|PMID:24564502|PMID:24568996|PMID:24610719|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24698609|PMID:24740214|PMID:24759409|PMID:24793577|PMID:24833718|PMID:24928929|PMID:24940037|PMID:24941995|PMID:24982166|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25447171|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25613431|PMID:25636182|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25646068|PMID:25652356|PMID:25656438|PMID:25729264|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444 11779268 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26221284|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26380986|PMID:26410935|PMID:26498160|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26747767|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27011056|PMID:27058611|PMID:27085269|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27245183|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27527004|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27884935|PMID:27893734|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28168077|PMID:28254189|PMID:28277377|PMID:28301460|PMID:28321935|PMID:28333917|PMID:28387797|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28588436|PMID:28596305|PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:28991257|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:2976867|PMID:29848614|PMID:29875124|PMID:29896744|PMID:29907982|PMID:30008475|PMID:30019023|PMID:30048161|PMID:30056620|PMID:30057829|PMID:30076350|PMID:30087447|PMID:30101859|PMID:30115950|PMID:30255099|PMID:30286810|PMID:30293248|PMID:30341550|PMID:30371227|PMID:30431218|PMID:30485715|PMID:30513137|PMID:30534251|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31053350|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31131229|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31471346|PMID:31506931|PMID:31527767|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31825148|PMID:31830381|PMID:31950671|PMID:32123317|PMID:32381728|PMID:32404357|PMID:32406602|PMID:32431097|PMID:32531870|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32884772|PMID:32938213|PMID:32939518|PMID:33059708|PMID:33082559|PMID:33174221|PMID:33200202|PMID:33230159|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33665530|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34550612|PMID:34663891|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:6220557|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9254848|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:952872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 11779268 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25974703|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26221284|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26380986|PMID:26410935|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26747767|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27011056|PMID:27058611|PMID:27085269|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27245183|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27527004|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27884935|PMID:27893734|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28168077|PMID:28254189|PMID:28277377|PMID:28301460|PMID:28321935|PMID:28333917|PMID:28387797|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28588436|PMID:28596305|PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28842177|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:28991257|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:2976867|PMID:29796325|PMID:29848614|PMID:29850152|PMID:29875124|PMID:29896744|PMID:29907982|PMID:30008475|PMID:30019023|PMID:30048161|PMID:30056620|PMID:30057829|PMID:30076350|PMID:30087447|PMID:30101859|PMID:30115950|PMID:30255099|PMID:30286810|PMID:30293248|PMID:30341550|PMID:30371227|PMID:30431218|PMID:30485715|PMID:30513137|PMID:30534251|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31053350|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31131229|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31471346|PMID:31506931|PMID:31527767|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31774634|PMID:31825148|PMID:31830381|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32381728|PMID:32404357|PMID:32406602|PMID:32431097|PMID:32531870|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32884772|PMID:32938213|PMID:32939518|PMID:33030311|PMID:33059708|PMID:33082559|PMID:33174221|PMID:33200202|PMID:33230159|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33665530|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34140103|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34550612|PMID:34663891|PMID:34818515|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:6220557|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9254848|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:952872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 11779268 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:10090557|PMID:10189089|PMID:10189222|PMID:10198291|PMID:10229672|PMID:10364683|PMID:10404462|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:10930463|PMID:10942427|PMID:11059536|PMID:11068200|PMID:11071382|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11453977|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11706995|PMID:11710961|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11810645|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12130534|PMID:12130535|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12413333|PMID:12446365|PMID:12511552|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14586646|PMID:14598350|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15264290|PMID:15287423|PMID:15371449|PMID:15583982|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15743917|PMID:15770129|PMID:15821637|PMID:15880509|PMID:15980072|PMID:15983637|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16222666|PMID:16273536|PMID:1631074|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17024364|PMID:17027361|PMID:17209430|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17366579|PMID:17418587|PMID:17449467|PMID:17492313|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:17984934|PMID:18079676|PMID:18087243|PMID:18354149|PMID:18379569|PMID:18412115|PMID:18435798|PMID:18471089|PMID:1852206|PMID:1852208|PMID:18615205|PMID:18795226|PMID:18925407|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:1929384|PMID:19293843|PMID:19293848|PMID:19328768|PMID:19336958|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19390640|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19763152|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20085885|PMID:20200614|PMID:20301510|PMID:2030732|PMID:20307669|PMID:20375004|PMID:20538085|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20803651|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21063442|PMID:21135753|PMID:21194821|PMID:21332468|PMID:21360310|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22034023|PMID:22140025|PMID:22144684|PMID:2219643|PMID:22216297|PMID:22262941|PMID:22393277|PMID:22406018|PMID:22539340|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22876116|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23141514|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23592911|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24078565|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24339047|PMID:24501682|PMID:24564502|PMID:24568996|PMID:24610719|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24698609|PMID:24740214|PMID:24759409|PMID:24793577|PMID:24833718|PMID:24928929|PMID:24940037|PMID:24941995|PMID:24982166|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25447171|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25613431|PMID:25636182|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25646068|PMID:25652356|PMID:25656438|PMID:25729264|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328 11779268 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26221284|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26380986|PMID:26410935|PMID:26423924|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26747767|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27011056|PMID:27058611|PMID:27085269|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27245183|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27527004|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27884935|PMID:27893734|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28168077|PMID:28254189|PMID:28277377|PMID:28301460|PMID:28321935|PMID:28333917|PMID:28387797|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28588436|PMID:28596305|PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28842177|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28944857|PMID:28973303|PMID:28991257|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:2976867|PMID:29796325|PMID:29848614|PMID:29850152|PMID:29875124|PMID:29896744|PMID:29907982|PMID:30008475|PMID:30019023|PMID:30048161|PMID:30056620|PMID:30057829|PMID:30076350|PMID:30087447|PMID:30101859|PMID:30115950|PMID:30255099|PMID:30286810|PMID:30293248|PMID:30341550|PMID:30371227|PMID:30431218|PMID:30485715|PMID:30513137|PMID:30534251|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31053350|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31131229|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31471346|PMID:31506931|PMID:31527767|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31774634|PMID:31825148|PMID:31830381|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32381728|PMID:32404357|PMID:32406602|PMID:32431097|PMID:32531870|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32884772|PMID:32938213|PMID:32939518|PMID:32989268|PMID:33030311|PMID:33059708|PMID:33082559|PMID:33174221|PMID:33200202|PMID:33230159|PMID:33282382|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33665530|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34140103|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34550612|PMID:34663891|PMID:34818515|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:6220557|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9254848|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:952872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 11779268 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome severity ISO RGD:731577 D RGD:9068941 20200609 RGD PMID:26787436|REF_RGD_ID:12910485 11779268 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome treatment ISO RGD:731577 D RGD:9068941 20200609 RGD PMID:25613431|REF_RGD_ID:12910135 11779268 FBN1 fibrillin 1 gene DOID:1909 melanoma ISO RGD:731577 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Melanoma PMID:10533071|PMID:10874320|PMID:11700157|PMID:12402346|PMID:12938084|PMID:14695540|PMID:16220557|PMID:16222657|PMID:16835936|PMID:17253931|PMID:17576681|PMID:17657824|PMID:17663468|PMID:19159394|PMID:19293843|PMID:21542060|PMID:24033266|PMID:24161884|PMID:25741868|PMID:26133393|PMID:28492532|PMID:29357934|PMID:31098894|PMID:7611299|PMID:8894692|PMID:9401003|PMID:9536098 11779268 FBN1 fibrillin 1 gene DOID:2018 hyperinsulinism ISO RGD:731577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20836762 11779268 FBN1 fibrillin 1 gene DOID:2340 craniosynostosis ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis PMID:25741868|PMID:31837199 11779268 FBN1 fibrillin 1 gene DOID:2717 Bloom syndrome ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11779268 FBN1 fibrillin 1 gene DOID:289 endometriosis ISO RGD:731577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 11779268 FBN1 fibrillin 1 gene DOID:2921 glomerulonephritis ISO RGD:620908 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:renal glomerulus (rat) PMID:16282705|REF_RGD_ID:7387262 11779268 FBN1 fibrillin 1 gene DOID:2921 glomerulonephritis ISO RGD:620908 D RGD:9068941 20200609 RGD mRNA:increased expression:renal cortex, renal glomerulus (rat) PMID:16395273|REF_RGD_ID:7365077 11779268 FBN1 fibrillin 1 gene DOID:3492 mixed connective tissue disease ISO RGD:731577 D RGD:9068941 20200609 RGD PMID:10395706|REF_RGD_ID:12910471 11779268 FBN1 fibrillin 1 gene DOID:3526 cerebral infarction ISO RGD:731577 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ischemic stroke PMID:10533071|PMID:10874320|PMID:11700157|PMID:12402346|PMID:12938084|PMID:14695540|PMID:16220557|PMID:16222657|PMID:16835936|PMID:17253931|PMID:17576681|PMID:17657824|PMID:17663468|PMID:19159394|PMID:19293843|PMID:21542060|PMID:24033266|PMID:24161884|PMID:25741868|PMID:26133393|PMID:28492532|PMID:29357934|PMID:31098894|PMID:7611299|PMID:8894692|PMID:9401003|PMID:9536098 11779268 FBN1 fibrillin 1 gene DOID:3627 aortic aneurysm ISO RGD:731577 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ascending aortic dilation PMID:10464652|PMID:11700157|PMID:11933199|PMID:12203987|PMID:12203992|PMID:12938084|PMID:14695540|PMID:15241795|PMID:17627385|PMID:17657824|PMID:19159394|PMID:19293843|PMID:20301510|PMID:21907952|PMID:24033266|PMID:24161884|PMID:24833718|PMID:25741868|PMID:25907466|PMID:26333736|PMID:27146836|PMID:27274304|PMID:27611364|PMID:27724990|PMID:28492532|PMID:28855619|PMID:29357934|PMID:30675029|PMID:30739908|PMID:31098894|PMID:31211626|PMID:31751304|PMID:31950671|PMID:32679894|PMID:34498425 11779268 FBN1 fibrillin 1 gene DOID:3627 aortic aneurysm severity ISO RGD:731578 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C1039G (mouse) PMID:24071006|REF_RGD_ID:7365039 11779268 FBN1 fibrillin 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia PMID:23806086|PMID:24088041|PMID:25736269 11779268 FBN1 fibrillin 1 gene DOID:418 systemic scleroderma ISO RGD:731577 D RGD:9068941 20200609 RGD PMID:10395706|REF_RGD_ID:12910471 11779268 FBN1 fibrillin 1 gene DOID:418 systemic scleroderma ISO RGD:731578 D RGD:9068941 20200609 RGD PMID:11123012|REF_RGD_ID:7387265 11779268 FBN1 fibrillin 1 gene DOID:418 systemic scleroderma ISO RGD:731578 D RGD:9068941 20220825 MouseDO OMIM:181750 11779268 FBN1 fibrillin 1 gene DOID:418 systemic scleroderma susceptibility ISO RGD:731577 D RGD:9068941 20200609 RGD DNA:insertion:5' utr PMID:12384286|REF_RGD_ID:12904889 11779268 FBN1 fibrillin 1 gene DOID:4195 hyperglycemia ISO RGD:731577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20836762 11779268 FBN1 fibrillin 1 gene DOID:423 myopathy ISO RGD:731577 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 11779268 FBN1 fibrillin 1 gene DOID:4480 achondroplasia ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Achondroplasia PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:25741868|PMID:28492532|PMID:28855619 11779268 FBN1 fibrillin 1 gene DOID:4783 mesangial proliferative glomerulonephritis ISO RGD:620908 D RGD:9068941 20200609 RGD mRNA:increased expression:cortex of kidney PMID:25482639|REF_RGD_ID:12910487 11779268 FBN1 fibrillin 1 gene DOID:5082 liver cirrhosis ISO RGD:620908 D RGD:9068941 20200609 RGD PMID:14661032|REF_RGD_ID:12910489 11779268 FBN1 fibrillin 1 gene DOID:5082 liver cirrhosis ISO RGD:731577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 11779268 FBN1 fibrillin 1 gene DOID:5199 ureteral obstruction ISO RGD:731578 D RGD:9068941 20200609 RGD protein:increased expression:kidney (mouse) PMID:17200203|REF_RGD_ID:7365047 11779268 FBN1 fibrillin 1 gene DOID:5199 ureteral obstruction treatment ISO RGD:731578 D RGD:9068941 20200609 RGD PMID:17200203|REF_RGD_ID:7365047 11779268 FBN1 fibrillin 1 gene DOID:520 aortic disease ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial aortopathy 11779268 FBN1 fibrillin 1 gene DOID:57 aortic valve insufficiency ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic regurgitation PMID:25741868|PMID:28492532 11779268 FBN1 fibrillin 1 gene DOID:630 genetic disease ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10198291|PMID:11139245|PMID:11700157|PMID:12651868|PMID:14598350|PMID:14695540|PMID:15161917|PMID:15241795|PMID:15598221|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16571647|PMID:16905551|PMID:17253931|PMID:17523150|PMID:17576681|PMID:17657824|PMID:17701892|PMID:18435798|PMID:1852206|PMID:19002209|PMID:19059503|PMID:19159394|PMID:19293843|PMID:19349279|PMID:19396033|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20886638|PMID:20979188|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21895641|PMID:21907952|PMID:22772377|PMID:23133647|PMID:23278365|PMID:23506379|PMID:23608731|PMID:23684891|PMID:23897642|PMID:24033266|PMID:24039054|PMID:24055113|PMID:24199744|PMID:24220124|PMID:24564502|PMID:24635535|PMID:24665001|PMID:24793577|PMID:24941995|PMID:25101912|PMID:25326635|PMID:25637381|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26026792|PMID:26380986|PMID:26764160|PMID:26787436|PMID:26875674|PMID:27112580|PMID:27274304|PMID:27582083|PMID:27935852|PMID:28492532|PMID:28655553|PMID:29357934|PMID:29620724|PMID:31211624|PMID:31227806|PMID:31589614|PMID:31950671|PMID:32679894|PMID:33059708|PMID:3536967|PMID:7738200|PMID:8563763|PMID:8653794|PMID:8941093|PMID:9236141|PMID:9452033|PMID:9536098|PMID:9817919 11779268 FBN1 fibrillin 1 gene DOID:65 connective tissue disease ISO RGD:731577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:10229672|PMID:10464652|PMID:11315929|PMID:11524736|PMID:11826022|PMID:11875032|PMID:11933199|PMID:12161601|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12938084|PMID:16220557|PMID:17253931|PMID:17657824|PMID:17663468|PMID:19293843|PMID:19370756|PMID:19533785|PMID:20200614|PMID:20564469|PMID:20979188|PMID:21683322|PMID:21895641|PMID:21907952|PMID:23608731|PMID:23653584|PMID:24033266|PMID:24035709|PMID:24055113|PMID:24311428|PMID:24793577|PMID:24941995|PMID:25637381|PMID:25652356|PMID:25741868|PMID:25812041|PMID:25839328|PMID:25944730|PMID:26269718|PMID:26332594|PMID:26633542|PMID:26684006|PMID:26787436|PMID:27245183|PMID:27647783|PMID:28254189|PMID:28492532|PMID:28497567|PMID:28650953|PMID:28941062|PMID:29357934|PMID:29848614|PMID:29875124|PMID:31008308|PMID:31098894|PMID:31211626|PMID:31227806|PMID:31322791|PMID:31730815|PMID:32989268|PMID:34150014|PMID:34550612|PMID:35237611|PMID:8136837|PMID:8188302|PMID:8281141|PMID:8430317|PMID:8563763|PMID:8988160|PMID:9150726|PMID:9338588|PMID:9876915 11779268 FBN1 fibrillin 1 gene DOID:83 cataract ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:10533071|PMID:24033266|PMID:24740214|PMID:25203624|PMID:25741868|PMID:28492532 11779268 FBN1 fibrillin 1 gene DOID:9000073 Metaphyseal Chondrodysplasia ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia PMID:21683322|PMID:25741868|PMID:27245183|PMID:28492532 11779268 FBN1 fibrillin 1 gene DOID:9001224 Striae Distensae ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Striae distensae PMID:25741868 11779268 FBN1 fibrillin 1 gene DOID:9001464 Weill-Marchesani Syndrome 2 ISO RGD:731577 D RGD:7240710 20180822 OMIM 11779268 FBN1 fibrillin 1 gene DOID:9001464 Weill-Marchesani Syndrome 2 ISO RGD:731577 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant | ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 PMID:10464652|PMID:10533071|PMID:10612827|PMID:10633129|PMID:11068200|PMID:11143906|PMID:11175294|PMID:11315929|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11933199|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12525539|PMID:12938084|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15880509|PMID:15980072|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16571647|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:17242066|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18615205|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19533785|PMID:19618372|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20699357|PMID:20886638|PMID:21542060|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22772377|PMID:22950452|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23608731|PMID:23684891|PMID:23719250|PMID:23794388|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25326635|PMID:25504618|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25900864|PMID:25907466|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26333736|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26787436|PMID:26875674|PMID:27058611|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27930701|PMID:27959697|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28301460|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30056620|PMID:30057829|PMID:30341550|PMID:30513137|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31098894|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31774634|PMID:31825148|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32730690|PMID:32939518|PMID:33282382|PMID:33436942|PMID:33483584|PMID:33824467|PMID:34008892|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34818515|PMID:4750422|PMID:7802039|PMID:7870075|PMID:8004112|PMID:8040326|PMID:8541880|PMID:8653794|PMID:8723076|PMID:8791520|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9536098|PMID:9837823 11779268 FBN1 fibrillin 1 gene DOID:9001510 Funnel Chest ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:25741868 11779268 FBN1 fibrillin 1 gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 PMID:25741868 11779268 FBN1 fibrillin 1 gene DOID:9001542 Albuminuria ISO RGD:731578 D RGD:9068941 20200609 RGD associated with Hypertension PMID:16380460|REF_RGD_ID:7365080 11779268 FBN1 fibrillin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11779268 FBN1 fibrillin 1 gene DOID:9001665 Aneurysm ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aneurysm PMID:25741868 11779268 FBN1 fibrillin 1 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycystic liver disease 1 11779268 FBN1 fibrillin 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:731578 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16380460|REF_RGD_ID:7365080 11779268 FBN1 fibrillin 1 gene DOID:9002165 Diabetic Nephropathies onset ISO RGD:731578 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16395273|REF_RGD_ID:7365077 11779268 FBN1 fibrillin 1 gene DOID:9002189 High Myopia ISO RGD:731577 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: High myopia PMID:10464652|PMID:10533071|PMID:10874320|PMID:11700157|PMID:11933199|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12938084|PMID:14695540|PMID:15241795|PMID:16220557|PMID:16222657|PMID:16835936|PMID:17253931|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:19159394|PMID:19293843|PMID:20301510|PMID:21542060|PMID:21907952|PMID:24033266|PMID:24161884|PMID:24833718|PMID:25741868|PMID:25907466|PMID:26133393|PMID:26333736|PMID:27146836|PMID:27274304|PMID:27611364|PMID:27724990|PMID:28492532|PMID:28855619|PMID:29357934|PMID:30675029|PMID:30739908|PMID:31098894|PMID:31211626|PMID:31751304|PMID:31950671|PMID:32679894|PMID:34498425|PMID:7611299|PMID:8894692|PMID:9401003|PMID:9536098 11779268 FBN1 fibrillin 1 gene DOID:9002884 Emphysema ISO RGD:731578 D RGD:9068941 20200609 RGD associated with Marfan Syndrome PMID:12598898|REF_RGD_ID:1300319 11779268 FBN1 fibrillin 1 gene DOID:9003139 Cardiac Fibrosis ISO RGD:620908 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:myocardium PMID:15849235|REF_RGD_ID:1601147 11779268 FBN1 fibrillin 1 gene DOID:9003326 Perrault Syndrome 1 ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perrault syndrome 1 PMID:25741868 11779268 FBN1 fibrillin 1 gene DOID:9004080 Aortic Rupture ISO RGD:731577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18178469 11779268 FBN1 fibrillin 1 gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:731577 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:28539832|PMID:28550590|PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28944857|PMID:28973303|PMID:28991257|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30019023|PMID:30056620|PMID:30057829|PMID:30087447|PMID:30115950|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30485715|PMID:30513137|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31471346|PMID:31506931|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31774634|PMID:31825148|PMID:31830381|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32381728|PMID:32431097|PMID:32531870|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:32989268|PMID:33030311|PMID:33059708|PMID:33174221|PMID:33200202|PMID:33230159|PMID:33282382|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34140103|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34550612|PMID:34818515|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:7611299|PMID:7738200|PMID:7762551|PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8071963|PMID:8136837|PMID:8188302|PMID:8281141|PMID:8406497|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:952872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 11779268 FBN1 fibrillin 1 gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:731577 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:10189222|PMID:10198291|PMID:10229672|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15743917|PMID:15821637|PMID:15880509|PMID:15980072|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17024364|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18354149|PMID:18435798|PMID:1852208|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19336958|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19390640|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:2030732|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21135753|PMID:21332468|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22876116|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24078565|PMID:24161884|PMID:24199744|PMID:24296667|PMID:24311428|PMID:24501682|PMID:24564502|PMID:24568996|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24698609|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:24982166|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26410935|PMID:26423924|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27011056|PMID:27058611|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28254189|PMID:28277377|PMID:28301460|PMID:28333917|PMID:28387797|PMID:28468757|PMID:28492532|PMID:28497567 11779268 FBN1 fibrillin 1 gene DOID:9004201 Ectopia Lentis ISO RGD:731577 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectopia lentis PMID:10533071|PMID:10633129|PMID:10874320|PMID:11700157|PMID:11992479|PMID:12402346|PMID:12938084|PMID:14695540|PMID:16220557|PMID:16222657|PMID:16835936|PMID:17253931|PMID:17418587|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:19159394|PMID:19293843|PMID:21542060|PMID:21895641|PMID:23577066|PMID:24033266|PMID:24161884|PMID:24793577|PMID:24941995|PMID:25326635|PMID:25504618|PMID:25741868|PMID:25812041|PMID:25852444|PMID:26133393|PMID:26787436|PMID:26875674|PMID:27906200|PMID:27959697|PMID:28492532|PMID:29357934|PMID:29543232|PMID:31098894|PMID:31211626|PMID:31227806|PMID:32123317|PMID:7611299|PMID:7870075|PMID:8653794|PMID:8723076|PMID:8894692|PMID:9399842|PMID:9401003|PMID:9536098|PMID:9837823 11779268 FBN1 fibrillin 1 gene DOID:9004286 Hirschsprung Disease 1 ISO RGD:731577 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hirschsprung disease 1 PMID:25741868|PMID:26559152|PMID:28492532 11779268 FBN1 fibrillin 1 gene DOID:9004665 Pectus Carinatum ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pectus carinatum PMID:25741868 11779268 FBN1 fibrillin 1 gene DOID:9005077 Joint Instability ISO RGD:731577 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:10464652|PMID:11700157|PMID:11933199|PMID:12203987|PMID:12203992|PMID:12938084|PMID:14695540|PMID:15241795|PMID:17627385|PMID:17657824|PMID:19159394|PMID:19293843|PMID:20301510|PMID:21907952|PMID:24033266|PMID:24161884|PMID:24833718|PMID:25741868|PMID:25907466|PMID:26333736|PMID:27146836|PMID:27274304|PMID:27611364|PMID:27724990|PMID:28492532|PMID:28855619|PMID:29357934|PMID:30675029|PMID:30739908|PMID:31098894|PMID:31211626|PMID:31751304|PMID:31950671|PMID:32679894|PMID:34498425 11779268 FBN1 fibrillin 1 gene DOID:9005367 Arachnodactyly ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arachnodactyly PMID:10533071|PMID:10633129|PMID:10874320|PMID:11143906|PMID:11700157|PMID:11826022|PMID:12203987|PMID:12402346|PMID:12446365|PMID:12938084|PMID:14695540|PMID:15054843|PMID:15241795|PMID:16220557|PMID:16222657|PMID:16835936|PMID:16971892|PMID:17253931|PMID:17576681|PMID:17657824|PMID:17663468|PMID:17679947|PMID:18087243|PMID:18615205|PMID:19089573|PMID:19159394|PMID:19293843|PMID:19328768|PMID:19839986|PMID:21542060|PMID:21895641|PMID:21932315|PMID:22772377|PMID:24033266|PMID:24161884|PMID:24199744|PMID:25053872|PMID:25741868|PMID:26133393|PMID:28492532|PMID:29357934|PMID:31098894|PMID:7611299|PMID:8040326|PMID:8541880|PMID:8791520|PMID:8894692|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9536098 11779268 FBN1 fibrillin 1 gene DOID:9005492 Marfan Lipodystrophy Syndrome ISO RGD:731577 D RGD:7240710 20190315 OMIM 11779268 FBN1 fibrillin 1 gene DOID:9005492 Marfan Lipodystrophy Syndrome ISO RGD:731577 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MARFAN-PROGEROID-LIPODYSTROPHY SYNDROME | ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME | ClinVar Annotator: match by term: Marfan lipodystrophy syndrome PMID:10464652|PMID:10533071|PMID:10612827|PMID:10633129|PMID:11068200|PMID:11139245|PMID:11143906|PMID:11175294|PMID:11315929|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11933199|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12938084|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15880509|PMID:15980072|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16571647|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:17242066|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18615205|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19533785|PMID:19618372|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22772377|PMID:22950452|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23608731|PMID:23684891|PMID:23719250|PMID:23794388|PMID:24033266|PMID:24039054|PMID:24161884|PMID:24199744|PMID:24613577|PMID:24665001|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25326635|PMID:25504618|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25900864|PMID:25907466|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26333736|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26787436|PMID:26875674|PMID:27058611|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27930701|PMID:27959697|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28301460|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30056620|PMID:30057829|PMID:30341550|PMID:30513137|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31098894|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31774634|PMID:31825148|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32431097|PMID:32679894|PMID:32730690|PMID:32939518|PMID:33282382|PMID:33436942|PMID:33483584|PMID:33824467|PMID:34008892|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34818515|PMID:7802039|PMID:7870075|PMID:8004112|PMID:8040326|PMID:8541880|PMID:8653794|PMID:8723076|PMID:8791520|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9536098|PMID:9837823 11779268 FBN1 fibrillin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620908 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus (rat) PMID:16380460|REF_RGD_ID:7365080 11779268 FBN1 fibrillin 1 gene DOID:9005890 Disproportionate Tall Stature ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disproportionate tall stature PMID:10633129|PMID:11992479|PMID:17418587|PMID:17627385|PMID:17657824|PMID:21895641|PMID:23577066|PMID:24033266|PMID:24941995|PMID:25326635|PMID:25741868|PMID:25812041|PMID:25852444|PMID:26787436|PMID:26875674|PMID:27959697|PMID:28492532|PMID:31211626|PMID:32123317|PMID:7870075|PMID:8653794|PMID:8723076|PMID:9399842|PMID:9837823 11779268 FBN1 fibrillin 1 gene DOID:9006768 Beaulieu-Boycott-Innes Syndrome ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome PMID:15241795|PMID:16571647|PMID:16905551|PMID:17701892|PMID:18435798|PMID:19293843|PMID:19349279|PMID:25741868|PMID:28492532 11779268 FBN1 fibrillin 1 gene DOID:9007096 Stroke ISO RGD:731577 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CEREBROVASCULAR ACCIDENT PMID:10533071|PMID:10874320|PMID:11700157|PMID:12402346|PMID:12938084|PMID:14695540|PMID:16220557|PMID:16222657|PMID:16835936|PMID:17253931|PMID:17576681|PMID:17657824|PMID:17663468|PMID:19159394|PMID:19293843|PMID:21542060|PMID:24033266|PMID:24161884|PMID:25741868|PMID:26133393|PMID:28492532|PMID:29357934|PMID:31098894|PMID:7611299|PMID:8894692|PMID:9401003|PMID:9536098 11779268 FBN1 fibrillin 1 gene DOID:9007529 Marfan Syndrome, Autosomal Recessive ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome, autosomal recessive PMID:16342915|PMID:17568394|PMID:19293843|PMID:19839986|PMID:23278365|PMID:24033266|PMID:24161884|PMID:24793577|PMID:25652356|PMID:25741868|PMID:26272055|PMID:26787436|PMID:28492532|PMID:30485715|PMID:30739908|PMID:33394117|PMID:33824467|PMID:9477945 11779268 FBN1 fibrillin 1 gene DOID:9007573 Flatfoot ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pes planus PMID:20564469|PMID:24161884|PMID:25741868|PMID:28492532 11779268 FBN1 fibrillin 1 gene DOID:9007661 Dwarfism ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:21683322|PMID:25741868|PMID:27245183|PMID:28492532 11779268 FBN1 fibrillin 1 gene DOID:9007662 Dwarfism with Tall Vertebrae ISO RGD:731577 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dwarfism with tall vertebrae PMID:25741868 11779268 FBN1 fibrillin 1 gene DOID:9007706 MASS Syndrome ISO RGD:731577 D RGD:7240710 20180130 OMIM 11779268 FBN1 fibrillin 1 gene DOID:9007706 MASS Syndrome ISO RGD:731577 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MASS syndrome | ClinVar Annotator: match by term: Overlap connective tissue disease PMID:10464652|PMID:10533071|PMID:10612827|PMID:10633129|PMID:11068200|PMID:11143906|PMID:11175294|PMID:11315929|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11933199|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12938084|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:1569206|PMID:15880509|PMID:15980072|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16571647|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:17242066|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18615205|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19533785|PMID:19618372|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20699357|PMID:20886638|PMID:21542060|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22772377|PMID:22950452|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23608731|PMID:23684891|PMID:23719250|PMID:23794388|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25326635|PMID:25504618|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25900864|PMID:25907466|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26333736|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26787436|PMID:26875674|PMID:27058611|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27382527|PMID:2739055|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27930701|PMID:27959697|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28301460|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30048161|PMID:30056620|PMID:30057829|PMID:30341550|PMID:30513137|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31098894|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31774634|PMID:31825148|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32730690|PMID:32939518|PMID:33282382|PMID:33436942|PMID:33483584|PMID:33824467|PMID:34008892|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34818515|PMID:7802039|PMID:7870075|PMID:8004112|PMID:8040326|PMID:8541880|PMID:8653794|PMID:8723076|PMID:8791520|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9536098|PMID:9837823 11779268 FBN1 fibrillin 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:31837199 11779268 FBN1 fibrillin 1 gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AAT1 | ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 1 | ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:10633129|PMID:11524736|PMID:11748851|PMID:11826022|PMID:11933199|PMID:11992479|PMID:12938084|PMID:14695540|PMID:16222657|PMID:17418587|PMID:17618372|PMID:17627385|PMID:17657824|PMID:18435798|PMID:19161152|PMID:19293843|PMID:19618372|PMID:19863550|PMID:20082464|PMID:21542060|PMID:21895641|PMID:23506379|PMID:23577066|PMID:24033266|PMID:24793577|PMID:24941995|PMID:25101912|PMID:25326635|PMID:25637381|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25907466|PMID:25944730|PMID:26272055|PMID:26621581|PMID:26787436|PMID:26875674|PMID:27112580|PMID:27153395|PMID:27582083|PMID:27959697|PMID:28492532|PMID:28655553|PMID:28659821|PMID:29357934|PMID:29543232|PMID:30371227|PMID:31211626|PMID:31227806|PMID:32123317|PMID:7870075|PMID:8653794|PMID:8723076|PMID:9399842|PMID:9837823 11779268 FBN1 fibrillin 1 gene DOID:9008691 Liver Injury ISO RGD:620908 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:24359594|REF_RGD_ID:7794798 11779268 FBN1 fibrillin 1 gene DOID:9009005 Familial Thoracic Aortic Aneurysm 2 ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 PMID:25741868|PMID:28492532 11779268 FBN1 fibrillin 1 gene DOID:9256 colorectal cancer ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11779268 FBN1 fibrillin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:620908 D RGD:9068941 20200609 RGD PMID:20836762|REF_RGD_ID:7257556 11779268 FBN1 fibrillin 1 gene DOID:988 mitral valve prolapse ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitral valve prolapse PMID:25741868 11779339 HMX3 H6 family homeobox 3 gene DOID:630 genetic disease ISO RGD:1603243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779344 CIPC CLOCK interacting pacemaker gene DOID:1059 intellectual disability ISO RGD:1319859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11779344 CIPC CLOCK interacting pacemaker gene DOID:630 genetic disease ISO RGD:1319859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779359 ZNF558 zinc finger protein 558 gene DOID:12849 autistic disorder ISO RGD:1348018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11779359 ZNF558 zinc finger protein 558 gene DOID:630 genetic disease ISO RGD:1348018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779387 SSTR3 somatostatin receptor 3 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1343520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11779387 SSTR3 somatostatin receptor 3 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1343520 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11779387 SSTR3 somatostatin receptor 3 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1343520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11779387 SSTR3 somatostatin receptor 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11779387 SSTR3 somatostatin receptor 3 gene DOID:169 neuroendocrine tumor ISO RGD:1343520 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17625444 11779387 SSTR3 somatostatin receptor 3 gene DOID:1793 pancreatic cancer ISO RGD:1343520 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17625444 11779387 SSTR3 somatostatin receptor 3 gene DOID:1824 status epilepticus ISO RGD:1343520 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18951627 11779387 SSTR3 somatostatin receptor 3 gene DOID:630 genetic disease ISO RGD:1343520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779387 SSTR3 somatostatin receptor 3 gene DOID:9000998 Brain Injuries ISO RGD:620308 D RGD:9068941 20200609 RGD PMID:11879809|REF_RGD_ID:2325002 11779387 SSTR3 somatostatin receptor 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620308 D RGD:9068941 20200609 RGD PMID:7956902|REF_RGD_ID:2325008 11779393 SLC17A2 solute carrier family 17 member 2 gene DOID:5082 liver cirrhosis ISO RGD:1318813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11779393 SLC17A2 solute carrier family 17 member 2 gene DOID:630 genetic disease ISO RGD:1318813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779393 SLC17A2 solute carrier family 17 member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11779424 TMEM183A transmembrane protein 183A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1320480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11779424 TMEM183A transmembrane protein 183A gene DOID:10283 prostate cancer ISO RGD:1320480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11779424 TMEM183A transmembrane protein 183A gene DOID:1540 parathyroid carcinoma ISO RGD:1320480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11779424 TMEM183A transmembrane protein 183A gene DOID:630 genetic disease ISO RGD:1320480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779424 TMEM183A transmembrane protein 183A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1320480 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11779424 TMEM183A transmembrane protein 183A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11779436 IL27RA interleukin 27 receptor subunit alpha gene DOID:10316 pneumoconiosis ISO RGD:1312815 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 11779436 IL27RA interleukin 27 receptor subunit alpha gene DOID:2841 asthma ISO RGD:1312816 D RGD:9068941 20200609 RGD PMID:16081811|REF_RGD_ID:5128496 11779436 IL27RA interleukin 27 receptor subunit alpha gene DOID:2957 pulmonary tuberculosis ISO RGD:1312816 D RGD:9068941 20200609 RGD PMID:15749890|REF_RGD_ID:5128486 11779436 IL27RA interleukin 27 receptor subunit alpha gene DOID:418 systemic scleroderma ISO RGD:1312815 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:20705635|REF_RGD_ID:5128477 11779436 IL27RA interleukin 27 receptor subunit alpha gene DOID:4483 rhinitis ISO RGD:1312816 D RGD:9068941 20200609 RGD PMID:19354069|REF_RGD_ID:5128480 11779436 IL27RA interleukin 27 receptor subunit alpha gene DOID:630 genetic disease ISO RGD:1312815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779533 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:10283 prostate cancer ISO RGD:68478 D RGD:9068941 20200609 RGD PMID:26677064|REF_RGD_ID:11561757 11779533 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:1059 intellectual disability ISO RGD:68478 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:16357568|PMID:21984976|PMID:22729224|PMID:24497998|PMID:25741868|PMID:26520804|PMID:26860062|PMID:27854409|PMID:28086757|PMID:28492532|PMID:28502725|PMID:33818783 11779533 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:1826 epilepsy ISO RGD:68478 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizure PMID:16357568|PMID:21984976|PMID:22729224|PMID:24497998|PMID:25741868|PMID:26520804|PMID:26860062|PMID:27854409|PMID:28086757|PMID:28492532|PMID:28502725|PMID:33818783 11779533 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:219 colon cancer ISO RGD:68478 D RGD:9068941 20200609 RGD PMID:18663744|REF_RGD_ID:13432043 11779533 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:68478 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:15591514|REF_RGD_ID:14390084 11779533 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:630 genetic disease ISO RGD:68478 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16357568|PMID:21984976|PMID:22729224|PMID:24497998|PMID:25741868|PMID:26520804|PMID:26860062|PMID:27854409|PMID:28086757|PMID:28492532|PMID:28502725|PMID:33818783 11779533 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:68341 D RGD:9068941 20220520 RGD PMID:25999787|REF_RGD_ID:152177911 11779533 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11779533 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9002403 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome ISO RGD:68478 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME PMID:16357568|PMID:21984976|PMID:22729224|PMID:24497998|PMID:25741868|PMID:26520804|PMID:26860062|PMID:27854409|PMID:28086757|PMID:28492532|PMID:28502725|PMID:33818783 11779533 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9002647 Megalencephaly - Cutis Marmorata Telangiectatica Congenita ISO RGD:68478 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Macrocephaly cutis marmorata telangiectatica congenita PMID:16357568|PMID:21984976|PMID:22729224|PMID:24497998|PMID:25741868|PMID:26520804|PMID:26860062|PMID:27854409|PMID:28086757|PMID:28492532|PMID:28502725|PMID:33818783 11779533 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:68479 D RGD:9068941 20200609 RGD PMID:22733740|REF_RGD_ID:13432042 11779533 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:68478 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation PMID:21984976|PMID:25741868 11779533 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9008086 Developmental Disabilities ISO RGD:68478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11779533 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:68478 D RGD:7240710 20190327 OMIM 11779533 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:68478 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:16357568|PMID:17576681|PMID:17675034|PMID:21984976|PMID:22729224|PMID:23745724|PMID:24497998|PMID:25741868|PMID:26520804|PMID:26860062|PMID:27854409|PMID:28086757|PMID:28166811|PMID:28492532|PMID:28502725|PMID:33818783|PMID:34170046|PMID:9536098 11779533 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9538 multiple myeloma ISO RGD:68478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11779557 JMJD1C jumonji domain containing 1C gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1320591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 11779557 JMJD1C jumonji domain containing 1C gene DOID:0060041 autism spectrum disorder ISO RGD:1320591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11779557 JMJD1C jumonji domain containing 1C gene DOID:0060169 benign familial infantile epilepsy ISO RGD:1320591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Benign familial infantile epilepsy PMID:25741868|PMID:28492532 11779557 JMJD1C jumonji domain containing 1C gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1320591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11779557 JMJD1C jumonji domain containing 1C gene DOID:12849 autistic disorder ISO RGD:1320591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17290275 11779557 JMJD1C jumonji domain containing 1C gene DOID:308 early myoclonic encephalopathy ISO RGD:1320591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:16199547|PMID:17576681|PMID:22495311|PMID:25741868|PMID:26181491|PMID:28166811|PMID:28492532|PMID:31954878|PMID:9536098 11779557 JMJD1C jumonji domain containing 1C gene DOID:630 genetic disease ISO RGD:1320591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11779557 JMJD1C jumonji domain containing 1C gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1320591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11779557 JMJD1C jumonji domain containing 1C gene DOID:687 hepatoblastoma ISO RGD:1320591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 11779557 JMJD1C jumonji domain containing 1C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320591 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: JMJD1C-associated Neurodevelopmental Disorder | ClinVar Annotator: match by term: JMJD1C-related Neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26181491|PMID:28492532|PMID:31954878 11779557 JMJD1C jumonji domain containing 1C gene DOID:9008826 YOU-HOOVER-FONG SYNDROME ISO RGD:1320591 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: TELO2-related intellectual disability-neurodevelopmental disorder PMID:25741868|PMID:31954878 11779604 ZBTB40 zinc finger and BTB domain containing 40 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1604838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11779604 ZBTB40 zinc finger and BTB domain containing 40 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1604838 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11779604 ZBTB40 zinc finger and BTB domain containing 40 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1604838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11779604 ZBTB40 zinc finger and BTB domain containing 40 gene DOID:1059 intellectual disability ISO RGD:1604838 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11779604 ZBTB40 zinc finger and BTB domain containing 40 gene DOID:630 genetic disease ISO RGD:1604838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779604 ZBTB40 zinc finger and BTB domain containing 40 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1604838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11779626 LOC100992836 olfactory receptor 6S1 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1348726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 11779626 LOC100992836 olfactory receptor 6S1 gene DOID:630 genetic disease ISO RGD:1348726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779641 EXOC3L4 exocyst complex component 3 like 4 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1349636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11779641 EXOC3L4 exocyst complex component 3 like 4 gene DOID:12849 autistic disorder ISO RGD:1349636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 11779641 EXOC3L4 exocyst complex component 3 like 4 gene DOID:630 genetic disease ISO RGD:1349636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779641 EXOC3L4 exocyst complex component 3 like 4 gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1349636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 11779656 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:0050827 rheumatic heart disease ISO RGD:3831 D RGD:9068941 20230202 RGD mRNA, protein:increases expression:mitral valve, heart (rat) PMID:33179113|REF_RGD_ID:155882558 11779656 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1299953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 11779656 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:0060457 posterior polymorphous corneal dystrophy ISO RGD:1299953 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy PMID:25741868 11779656 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:0110855 posterior polymorphous corneal dystrophy 1 ISO RGD:1299953 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CORNEAL DYSTROPHY, HEREDITARY POLYMORPHOUS POSTERIOR | ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1 PMID:25741868 11779656 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:0110857 posterior polymorphous corneal dystrophy 3 ISO RGD:1299953 D RGD:7240710 20180130 OMIM 11779656 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:0110857 posterior polymorphous corneal dystrophy 3 ISO RGD:1299953 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 3 PMID:12654361|PMID:16252232|PMID:23599324|PMID:25741868|PMID:28492532|PMID:36613650 11779656 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:1686 glaucoma ISO RGD:1299953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma PMID:25741868 11779656 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:2566 corneal dystrophy ISO RGD:1299953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal dystrophy PMID:25741868 11779656 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:321 tropical spastic paraparesis ISO RGD:1552190 D RGD:9068941 20220825 MouseDO OMIM:159580 11779656 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1299953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 11779656 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:5773 oral submucous fibrosis ISO RGD:1299953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26934322 11779656 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:630 genetic disease ISO RGD:1299953 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11779656 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:8541 Sezary's disease ISO RGD:1299953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551670 11779656 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:9000918 Disease Progression ISO RGD:1299953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19839049 11779656 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:9002352 Corneal Dystrophy, Fuchs Endothelial, 6 ISO RGD:1299953 D RGD:7240710 20180130 OMIM 11779656 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:9002352 Corneal Dystrophy, Fuchs Endothelial, 6 ISO RGD:1299953 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 6 PMID:20036349|PMID:23599324|PMID:25741868|PMID:26622166|PMID:28492532|PMID:33116287 11779656 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1299953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18622689 11779656 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1299953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21954225 11779656 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1299953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11779656 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1299953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21954225 11779656 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1299953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18622689 11779656 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1299953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19839049|PMID:21501481 11779656 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:3831 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 11779676 LMO2 LIM domain only 2 gene DOID:0080600 COVID-19 ISO RGD:1316093 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11779676 LMO2 LIM domain only 2 gene DOID:1059 intellectual disability ISO RGD:1316093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11779676 LMO2 LIM domain only 2 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1316093 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:19246562|PMID:2034676|PMID:24394663 11779676 LMO2 LIM domain only 2 gene DOID:630 genetic disease ISO RGD:1316093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779676 LMO2 LIM domain only 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316093 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11779676 LMO2 LIM domain only 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1316094 D RGD:9068941 20220825 MouseDO OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 11779683 MED16 mediator complex subunit 16 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1317518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 11779683 MED16 mediator complex subunit 16 gene DOID:289 endometriosis ISO RGD:1317518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 11779683 MED16 mediator complex subunit 16 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1317518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 11779683 MED16 mediator complex subunit 16 gene DOID:5339 cyclic hematopoiesis ISO RGD:1317518 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11779683 MED16 mediator complex subunit 16 gene DOID:630 genetic disease ISO RGD:1317518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779703 DNAH3 dynein axonemal heavy chain 3 gene DOID:10283 prostate cancer ISO RGD:1314138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11779703 DNAH3 dynein axonemal heavy chain 3 gene DOID:1059 intellectual disability ISO RGD:1314138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11779703 DNAH3 dynein axonemal heavy chain 3 gene DOID:630 genetic disease ISO RGD:1314138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779768 EVX2 even-skipped homeobox 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1348415 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11779768 EVX2 even-skipped homeobox 2 gene DOID:630 genetic disease ISO RGD:1348415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779781 SNX3 sorting nexin 3 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1345268 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 11779781 SNX3 sorting nexin 3 gene DOID:0080600 COVID-19 ISO RGD:1345268 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11779781 SNX3 sorting nexin 3 gene DOID:630 genetic disease ISO RGD:1345268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779792 SH2B3 SH2B adaptor protein 3 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:68607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26457647 11779792 SH2B3 SH2B adaptor protein 3 gene DOID:0060652 familial erythrocytosis 1 ISO RGD:68607 D RGD:7240710 20180509 OMIM 11779792 SH2B3 SH2B adaptor protein 3 gene DOID:0060652 familial erythrocytosis 1 ISO RGD:68607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign PMID:15705783|PMID:20843259|PMID:25741868|PMID:27651169|PMID:28484264|PMID:29590070 11779792 SH2B3 SH2B adaptor protein 3 gene DOID:0080199 colorectal carcinoma exacerbates ISO RGD:68607 D RGD:9068941 20220728 RGD protein:decreased expression:colorectum (human) PMID:31706103|REF_RGD_ID:153297781 11779792 SH2B3 SH2B adaptor protein 3 gene DOID:0112203 developmental and epileptic encephalopathy 67 ISO RGD:68607 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 67 PMID:20404132|PMID:25741868 11779792 SH2B3 SH2B adaptor protein 3 gene DOID:10763 hypertension ISO RGD:68411 D RGD:9068941 20200609 RGD PMID:25776069|REF_RGD_ID:13442483 11779792 SH2B3 SH2B adaptor protein 3 gene DOID:12306 vitiligo ISO RGD:68607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 11779792 SH2B3 SH2B adaptor protein 3 gene DOID:2224 essential thrombocythemia ISO RGD:68607 D RGD:7240710 20180509 OMIM 11779792 SH2B3 SH2B adaptor protein 3 gene DOID:2224 essential thrombocythemia ISO RGD:68607 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Idiopathic thrombocythemia | ClinVar Annotator: match by term: THROMBOCYTOSIS 1 | ClinVar Annotator: match by term: Thrombocythemia 1 PMID:15705783|PMID:20404132|PMID:23812944|PMID:25741868|PMID:27651169|PMID:28484264|PMID:29590070|PMID:31298594 11779792 SH2B3 SH2B adaptor protein 3 gene DOID:2228 thrombocytosis ISO RGD:68607 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism 11779792 SH2B3 SH2B adaptor protein 3 gene DOID:3393 coronary artery disease ISO RGD:68607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 11779792 SH2B3 SH2B adaptor protein 3 gene DOID:4971 myelofibrosis ISO RGD:68607 D RGD:7240710 20180509 OMIM 11779792 SH2B3 SH2B adaptor protein 3 gene DOID:4971 myelofibrosis ISO RGD:68607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myelofibrosis, somatic | ClinVar Annotator: match by term: Primary myelofibrosis PMID:20404132|PMID:25741868 11779792 SH2B3 SH2B adaptor protein 3 gene DOID:5844 myocardial infarction ISO RGD:68607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19198610 11779792 SH2B3 SH2B adaptor protein 3 gene DOID:630 genetic disease ISO RGD:68607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779792 SH2B3 SH2B adaptor protein 3 gene DOID:687 hepatoblastoma ISO RGD:68607 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:20404132|PMID:25741868 11779792 SH2B3 SH2B adaptor protein 3 gene DOID:8432 polycythemia ISO RGD:68607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC PMID:15705783|PMID:20843259|PMID:25741868|PMID:27651169|PMID:28484264|PMID:29590070 11779792 SH2B3 SH2B adaptor protein 3 gene DOID:8552 chronic myeloid leukemia ISO RGD:68608 D RGD:9068941 20220825 MouseDO OMIM:608232 11779792 SH2B3 SH2B adaptor protein 3 gene DOID:9001542 Albuminuria ISO RGD:68411 D RGD:9068941 20200609 RGD PMID:25776069|REF_RGD_ID:13442483 11779792 SH2B3 SH2B adaptor protein 3 gene DOID:9005372 Inflammation ISO RGD:68607 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21496118 11779792 SH2B3 SH2B adaptor protein 3 gene DOID:9006561 Familial Myelofibrosis ISO RGD:68607 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial myelofibrosis PMID:25741868 11779792 SH2B3 SH2B adaptor protein 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:68607 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:23908464|PMID:25741868|PMID:26457647|PMID:31102422|PMID:31173385 11779792 SH2B3 SH2B adaptor protein 3 gene DOID:9007096 Stroke ISO RGD:68607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 11779792 SH2B3 SH2B adaptor protein 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:68411 D RGD:9068941 20200609 RGD PMID:25628389|REF_RGD_ID:12904914 11779792 SH2B3 SH2B adaptor protein 3 gene DOID:9074 systemic lupus erythematosus ISO RGD:68607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838195 11779792 SH2B3 SH2B adaptor protein 3 gene DOID:9256 colorectal cancer susceptibility ISO RGD:68607 D RGD:9068941 20220728 RGD DNA:missense mutation:CDS:p.W263R (rs3184504) (human) PMID:26553438|REF_RGD_ID:11041896 11779792 SH2B3 SH2B adaptor protein 3 gene DOID:9538 multiple myeloma ISO RGD:68607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11779792 SH2B3 SH2B adaptor protein 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:68607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30224649 11779792 SH2B3 SH2B adaptor protein 3 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:68607 D RGD:9068941 20220728 RGD DNA:SNP: : (rs3184504) (human) PMID:21873553|REF_RGD_ID:6484692 11779792 SH2B3 SH2B adaptor protein 3 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:68607 D RGD:9068941 20220728 RGD DNA:missense mutation:exon: (rs3184504) (human) PMID:21829393|REF_RGD_ID:153297780 11779807 TOX2 TOX high mobility group box family member 2 gene DOID:2234 focal epilepsy ISO RGD:1350992 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11779807 TOX2 TOX high mobility group box family member 2 gene DOID:630 genetic disease ISO RGD:1350992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779807 TOX2 TOX high mobility group box family member 2 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1350992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11779833 NOX4 NADPH oxidase 4 gene DOID:0080547 non-alcoholic steatohepatitis susceptibility ISO RGD:620600 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:20606728|REF_RGD_ID:21076282 11779833 NOX4 NADPH oxidase 4 gene DOID:1059 intellectual disability ISO RGD:731542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11779833 NOX4 NADPH oxidase 4 gene DOID:1074 kidney failure ISO RGD:731542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23325087 11779833 NOX4 NADPH oxidase 4 gene DOID:10763 hypertension ISO RGD:620600 D RGD:9068941 20200609 RGD PMID:26644237|REF_RGD_ID:11085830 11779833 NOX4 NADPH oxidase 4 gene DOID:10763 hypertension ISO RGD:620600 D RGD:9068941 20200609 RGD protein:increased expression:aorta, vascular associated smooth muscle cell PMID:18418428|REF_RGD_ID:2324669 11779833 NOX4 NADPH oxidase 4 gene DOID:10763 hypertension ISO RGD:731542 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:27659729|PMID:27847271|PMID:32147540 11779833 NOX4 NADPH oxidase 4 gene DOID:2316 brain ischemia ISO RGD:731543 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex (human) PMID:15802177|REF_RGD_ID:1580980 11779833 NOX4 NADPH oxidase 4 gene DOID:6000 congestive heart failure ISO RGD:731542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20304815 11779833 NOX4 NADPH oxidase 4 gene DOID:630 genetic disease ISO RGD:731542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779833 NOX4 NADPH oxidase 4 gene DOID:6432 pulmonary hypertension ISO RGD:731543 D RGD:9068941 20200609 RGD associated with Anoxia;mRNA, protein:increased expression:lung PMID:18952568|REF_RGD_ID:4762683 11779833 NOX4 NADPH oxidase 4 gene DOID:783 end stage renal disease ISO RGD:731542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 11779833 NOX4 NADPH oxidase 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11779833 NOX4 NADPH oxidase 4 gene DOID:9001665 Aneurysm ISO RGD:620600 D RGD:9068941 20200609 RGD PMID:19620512|REF_RGD_ID:2324659 11779833 NOX4 NADPH oxidase 4 gene DOID:9002165 Diabetic Nephropathies ISO RGD:620600 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16135519|REF_RGD_ID:2324673 11779833 NOX4 NADPH oxidase 4 gene DOID:9002165 Diabetic Nephropathies ISO RGD:620600 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:kidney cortex PMID:17511984|REF_RGD_ID:2324670 11779833 NOX4 NADPH oxidase 4 gene DOID:9002928 Colonic Neoplasms ISO RGD:731542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20715105 11779833 NOX4 NADPH oxidase 4 gene DOID:9004009 Reperfusion Injury ISO RGD:620600 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:18438942|REF_RGD_ID:2324666 11779833 NOX4 NADPH oxidase 4 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:620600 D RGD:9068941 20200609 RGD associated with hypertension PMID:23850346|REF_RGD_ID:13703040 11779833 NOX4 NADPH oxidase 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620600 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:19686728|REF_RGD_ID:2324658 11779833 NOX4 NADPH oxidase 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11779855 POLR1A RNA polymerase I subunit A gene DOID:0060353 acrofacial dysostosis Cincinnati type ISO RGD:1345694 D RGD:7240710 20180130 OMIM 11779855 POLR1A RNA polymerase I subunit A gene DOID:0060353 acrofacial dysostosis Cincinnati type ISO RGD:1345694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acrofacial dysostosis Cincinnati type PMID:25741868|PMID:25913037|PMID:28492532 11779855 POLR1A RNA polymerase I subunit A gene DOID:0060470 salt and pepper syndrome ISO RGD:1345694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GM3 synthase deficiency PMID:28492532 11779855 POLR1A RNA polymerase I subunit A gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1345694 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 11779855 POLR1A RNA polymerase I subunit A gene DOID:630 genetic disease ISO RGD:1345694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24153182|PMID:25741868|PMID:28492532|PMID:8910400 11779855 POLR1A RNA polymerase I subunit A gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1345694 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:25741868 11779855 POLR1A RNA polymerase I subunit A gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1345694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 11779893 HS6ST3 heparan sulfate 6-O-sulfotransferase 3 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1314189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 11779893 HS6ST3 heparan sulfate 6-O-sulfotransferase 3 gene DOID:630 genetic disease ISO RGD:1314189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779893 HS6ST3 heparan sulfate 6-O-sulfotransferase 3 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1314189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11779899 C5AR1 complement C5a receptor 1 gene DOID:0060903 thrombosis ISO RGD:70553 D RGD:9068941 20200609 RGD associated with Anti-Glomerular Basement Membrane Disease PMID:11422211|REF_RGD_ID:1600652 11779899 C5AR1 complement C5a receptor 1 gene DOID:0080642 Middle East respiratory syndrome treatment ISO RGD:733148 D RGD:9068941 20200625 RGD PMID:30634407|REF_RGD_ID:30309958 11779899 C5AR1 complement C5a receptor 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:733148 D RGD:9068941 20200609 RGD PMID:11292607|REF_RGD_ID:5130168 11779899 C5AR1 complement C5a receptor 1 gene DOID:10652 Alzheimer's disease ISO RGD:1350810 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:12759460|REF_RGD_ID:5130177 11779899 C5AR1 complement C5a receptor 1 gene DOID:11394 adult respiratory distress syndrome treatment ISO RGD:70553 D RGD:9068941 20200609 RGD PMID:16782534|REF_RGD_ID:2303017 11779899 C5AR1 complement C5a receptor 1 gene DOID:1227 neutropenia ISO RGD:70553 D RGD:9068941 20200609 RGD PMID:10516626|REF_RGD_ID:5130180 11779899 C5AR1 complement C5a receptor 1 gene DOID:14115 toxic shock syndrome ISO RGD:1350810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18063050 11779899 C5AR1 complement C5a receptor 1 gene DOID:2841 asthma ISO RGD:70553 D RGD:9068941 20200609 RGD protein:increased expression:lung, leukocyte PMID:17544263|REF_RGD_ID:5129560 11779899 C5AR1 complement C5a receptor 1 gene DOID:2841 asthma ISO RGD:733148 D RGD:9068941 20200609 RGD PMID:16511606|PMID:20802484|REF_RGD_ID:5129681|REF_RGD_ID:5130166 11779899 C5AR1 complement C5a receptor 1 gene DOID:2841 asthma ISO RGD:733148 D RGD:9068941 20200609 RGD protein:increased expression:lung, leukocyte PMID:17544263|REF_RGD_ID:5129560 11779899 C5AR1 complement C5a receptor 1 gene DOID:2841 asthma severity ISO RGD:1350810 D RGD:9068941 20200609 RGD protein:increased expression:respiratory tract PMID:15940127|REF_RGD_ID:5129561 11779899 C5AR1 complement C5a receptor 1 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1350810 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 11779899 C5AR1 complement C5a receptor 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1350810 D RGD:9068941 20200609 RGD protein:increased expression:lung, mast cell PMID:19926870|REF_RGD_ID:5130165 11779899 C5AR1 complement C5a receptor 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:70553 D RGD:9068941 20200609 RGD PMID:19050293|REF_RGD_ID:5130169 11779899 C5AR1 complement C5a receptor 1 gene DOID:4483 rhinitis ISO RGD:1350810 D RGD:9068941 20200609 RGD PMID:18538384|REF_RGD_ID:5129559 11779899 C5AR1 complement C5a receptor 1 gene DOID:630 genetic disease ISO RGD:1350810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779899 C5AR1 complement C5a receptor 1 gene DOID:850 lung disease ISO RGD:70553 D RGD:9068941 20200609 RGD Acute Lung Injury;protein:increased expression:lung, leukocyte PMID:17544263|REF_RGD_ID:5129560 11779899 C5AR1 complement C5a receptor 1 gene DOID:850 lung disease ISO RGD:733148 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:21421909|REF_RGD_ID:5129564 11779899 C5AR1 complement C5a receptor 1 gene DOID:850 lung disease ISO RGD:733148 D RGD:9068941 20200609 RGD Acute Lung Injury associated with Pancreatitis, Acute Necrotizing PMID:11292607|REF_RGD_ID:5130168 11779899 C5AR1 complement C5a receptor 1 gene DOID:850 lung disease ISO RGD:733148 D RGD:9068941 20200609 RGD Acute Lung Injury;protein:increased expression:lung, leukocyte PMID:17544263|REF_RGD_ID:5129560 11779899 C5AR1 complement C5a receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11779899 C5AR1 complement C5a receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:733148 D RGD:9068941 20200609 RGD PMID:15995705|REF_RGD_ID:1600592 11779899 C5AR1 complement C5a receptor 1 gene DOID:9002906 Multiple Organ Failure ISO RGD:70553 D RGD:9068941 20200609 RGD associated with Aortic Aneurysm, Abdominal PMID:14718840|REF_RGD_ID:5130167 11779899 C5AR1 complement C5a receptor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:70553 D RGD:9068941 20200609 RGD PMID:15158333|PMID:15159277|REF_RGD_ID:1600597|REF_RGD_ID:5129702 11779899 C5AR1 complement C5a receptor 1 gene DOID:9004484 Sepsis ISO RGD:70553 D RGD:9068941 20200609 RGD PMID:18648551|REF_RGD_ID:5130170 11779899 C5AR1 complement C5a receptor 1 gene DOID:9004484 Sepsis disease_progression ISO RGD:70553 D RGD:9068941 20200609 RGD PMID:12897064|REF_RGD_ID:5130176 11779899 C5AR1 complement C5a receptor 1 gene DOID:9005930 Endotoxemia ISO RGD:70553 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:9272704|REF_RGD_ID:70679 11779899 C5AR1 complement C5a receptor 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:733148 D RGD:9068941 20200609 RGD protein:increased expression:lung, leukocyte PMID:17544263|REF_RGD_ID:5129560 11779899 C5AR1 complement C5a receptor 1 gene DOID:9970 obesity treatment ISO RGD:70553 D RGD:9068941 20200609 RGD PMID:23118029|REF_RGD_ID:7411625 11779906 RPL18 ribosomal protein L18 gene DOID:0111896 Diamond-Blackfan anemia 18 ISO RGD:733647 D RGD:7240710 20190315 OMIM 11779906 RPL18 ribosomal protein L18 gene DOID:0111896 Diamond-Blackfan anemia 18 ISO RGD:733647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 18 PMID:28280134 11779906 RPL18 ribosomal protein L18 gene DOID:630 genetic disease ISO RGD:733647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779906 RPL18 ribosomal protein L18 gene DOID:9000217 Stomach Neoplasms ISO RGD:733647 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11779906 RPL18 ribosomal protein L18 gene DOID:9000918 Disease Progression ISO RGD:733647 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11779917 LEMD2 LEM domain nuclear envelope protein 2 gene DOID:0050553 JMP syndrome ISO RGD:1313312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11779917 LEMD2 LEM domain nuclear envelope protein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1552183 D RGD:9068941 20230330 MouseDO 11779917 LEMD2 LEM domain nuclear envelope protein 2 gene DOID:0110243 cataract 46 juvenile-onset ISO RGD:1313312 D RGD:7240710 20190315 OMIM 11779917 LEMD2 LEM domain nuclear envelope protein 2 gene DOID:0110243 cataract 46 juvenile-onset ISO RGD:1313312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 46 juvenile-onset PMID:23806086|PMID:23863954|PMID:24088041|PMID:26788539|PMID:31061923|PMID:4061486 11779917 LEMD2 LEM domain nuclear envelope protein 2 gene DOID:10907 microcephaly ISO RGD:1313312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:30905398 11779917 LEMD2 LEM domain nuclear envelope protein 2 gene DOID:630 genetic disease ISO RGD:1313312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779917 LEMD2 LEM domain nuclear envelope protein 2 gene DOID:83 cataract ISO RGD:1313312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 11779917 LEMD2 LEM domain nuclear envelope protein 2 gene DOID:9000495 Tremor ISO RGD:1313312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intention tremor PMID:25741868|PMID:30905398 11779917 LEMD2 LEM domain nuclear envelope protein 2 gene DOID:9005616 Micrognathism ISO RGD:1313312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:25741868|PMID:30905398 11779917 LEMD2 LEM domain nuclear envelope protein 2 gene DOID:9006257 Growth Disorders ISO RGD:1313312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth Retardation PMID:25741868|PMID:30905398 11779917 LEMD2 LEM domain nuclear envelope protein 2 gene DOID:9007661 Dwarfism ISO RGD:1313312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:30905398 11779917 LEMD2 LEM domain nuclear envelope protein 2 gene DOID:9007917 Supernumerary Tooth ISO RGD:1313312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Teeth, supernumerary PMID:25741868|PMID:30905398 11779917 LEMD2 LEM domain nuclear envelope protein 2 gene DOID:930 orbital disease ISO RGD:1313312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proptosis PMID:25741868|PMID:30905398 11779933 CXCL6 C-X-C motif chemokine ligand 6 gene DOID:0050848 obstructive sleep apnea ISO RGD:1345336 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15988615|REF_RGD_ID:4892031 11779933 CXCL6 C-X-C motif chemokine ligand 6 gene DOID:0060496 respiratory allergy ISO RGD:1552792 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:18417511|REF_RGD_ID:5135242 11779933 CXCL6 C-X-C motif chemokine ligand 6 gene DOID:0080600 COVID-19 ISO RGD:1345336 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11779933 CXCL6 C-X-C motif chemokine ligand 6 gene DOID:10457 Legionnaires' disease ISO RGD:1552792 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:11254553|REF_RGD_ID:5135252 11779933 CXCL6 C-X-C motif chemokine ligand 6 gene DOID:14654 prostatitis ISO RGD:708540 D RGD:9068941 20210723 RGD PMID:21254154|REF_RGD_ID:5134993 11779933 CXCL6 C-X-C motif chemokine ligand 6 gene DOID:1520 colon carcinoma disease_progression ISO RGD:708540 D RGD:9068941 20200609 RGD PMID:18413816|REF_RGD_ID:5135268 11779933 CXCL6 C-X-C motif chemokine ligand 6 gene DOID:2841 asthma ISO RGD:1552792 D RGD:9068941 20200609 RGD PMID:9620668|REF_RGD_ID:5135265 11779933 CXCL6 C-X-C motif chemokine ligand 6 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1552792 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 11779933 CXCL6 C-X-C motif chemokine ligand 6 gene DOID:2945 severe acute respiratory syndrome ISO RGD:708540 D RGD:9068941 20200609 RGD protein:increased expression:respiratory fluid/secretion PMID:19741068|REF_RGD_ID:4143520 11779933 CXCL6 C-X-C motif chemokine ligand 6 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1552792 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:16790804|REF_RGD_ID:5135246 11779933 CXCL6 C-X-C motif chemokine ligand 6 gene DOID:4483 rhinitis ISO RGD:1345336 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucus PMID:20659080|REF_RGD_ID:4892030 11779933 CXCL6 C-X-C motif chemokine ligand 6 gene DOID:630 genetic disease ISO RGD:1345336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779933 CXCL6 C-X-C motif chemokine ligand 6 gene DOID:7148 rheumatoid arthritis ISO RGD:1345336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15292528 11779933 CXCL6 C-X-C motif chemokine ligand 6 gene DOID:8398 osteoarthritis ISO RGD:1345336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15292528 11779933 CXCL6 C-X-C motif chemokine ligand 6 gene DOID:874 bacterial pneumonia ISO RGD:1552792 D RGD:9068941 20200609 RGD PMID:19846873|REF_RGD_ID:4145490 11779933 CXCL6 C-X-C motif chemokine ligand 6 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1345336 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11779933 CXCL6 C-X-C motif chemokine ligand 6 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:708540 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:10498645|REF_RGD_ID:5135271 11779933 CXCL6 C-X-C motif chemokine ligand 6 gene DOID:9002457 Experimental Arthritis severity ISO RGD:708540 D RGD:9068941 20200609 RGD PMID:10358204|REF_RGD_ID:5135272 11779933 CXCL6 C-X-C motif chemokine ligand 6 gene DOID:9003871 Venous Thrombosis ISO RGD:708540 D RGD:9068941 20200609 RGD PMID:7749835|REF_RGD_ID:5135275 11779933 CXCL6 C-X-C motif chemokine ligand 6 gene DOID:9004009 Reperfusion Injury ISO RGD:708540 D RGD:9068941 20200609 RGD PMID:10655268|REF_RGD_ID:5135270 11779933 CXCL6 C-X-C motif chemokine ligand 6 gene DOID:9004009 Reperfusion Injury ISO RGD:708540 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:11580116|REF_RGD_ID:5135251 11779933 CXCL6 C-X-C motif chemokine ligand 6 gene DOID:9004484 Sepsis ISO RGD:1552792 D RGD:9068941 20200609 RGD protein:increased expression:multiple tissues PMID:9284162|REF_RGD_ID:5135255 11779933 CXCL6 C-X-C motif chemokine ligand 6 gene DOID:9004610 Acute Lung Injury ISO RGD:1552792 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:15557650|REF_RGD_ID:5135247 11779933 CXCL6 C-X-C motif chemokine ligand 6 gene DOID:9004610 Acute Lung Injury ISO RGD:708540 D RGD:9068941 20200609 RGD associated with Reperfusion Injury PMID:7814607|REF_RGD_ID:5135256 11779933 CXCL6 C-X-C motif chemokine ligand 6 gene DOID:9005930 Endotoxemia ISO RGD:1552792 D RGD:9068941 20200609 RGD mRNA:increased expression:multiple organs PMID:9766630|REF_RGD_ID:5135254 11779933 CXCL6 C-X-C motif chemokine ligand 6 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:708540 D RGD:9068941 20200609 RGD PMID:11342480|REF_RGD_ID:5135269 11779933 CXCL6 C-X-C motif chemokine ligand 6 gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:1552792 D RGD:9068941 20200828 RGD mRNA:altered expression:gastric antrum (mouse) PMID:29085807|REF_RGD_ID:38549349 11779933 CXCL6 C-X-C motif chemokine ligand 6 gene DOID:9675 pulmonary emphysema ISO RGD:1552792 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17023518|REF_RGD_ID:5135245 11779941 ELAVL2 ELAV like RNA binding protein 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1314763 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 11779941 ELAVL2 ELAV like RNA binding protein 2 gene DOID:5419 schizophrenia ISO RGD:1314763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11779941 ELAVL2 ELAV like RNA binding protein 2 gene DOID:630 genetic disease ISO RGD:1314763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779941 ELAVL2 ELAV like RNA binding protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1314763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11779979 ADAMTS19 ADAM metallopeptidase with thrombospondin type 1 motif 19 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11779979 ADAMTS19 ADAM metallopeptidase with thrombospondin type 1 motif 19 gene DOID:4079 heart valve disease ISO RGD:1318082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31844321 11779979 ADAMTS19 ADAM metallopeptidase with thrombospondin type 1 motif 19 gene DOID:62 aortic valve disease ISO RGD:1318083 D RGD:9068941 20220825 MouseDO 11779979 ADAMTS19 ADAM metallopeptidase with thrombospondin type 1 motif 19 gene DOID:630 genetic disease ISO RGD:1318082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11779979 ADAMTS19 ADAM metallopeptidase with thrombospondin type 1 motif 19 gene DOID:9001576 CARDIAC VALVULAR DYSPLASIA 2 ISO RGD:1318082 D RGD:7240710 20221207 OMIM 11779979 ADAMTS19 ADAM metallopeptidase with thrombospondin type 1 motif 19 gene DOID:9001576 CARDIAC VALVULAR DYSPLASIA 2 ISO RGD:1318082 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac valvular dysplasia 2 PMID:31844321|PMID:32323311 11779979 ADAMTS19 ADAM metallopeptidase with thrombospondin type 1 motif 19 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11779979 ADAMTS19 ADAM metallopeptidase with thrombospondin type 1 motif 19 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11780003 MCM5 minichromosome maintenance complex component 5 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1315334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11780003 MCM5 minichromosome maintenance complex component 5 gene DOID:0080255 Meier-Gorlin syndrome 8 ISO RGD:1315334 D RGD:7240710 20190315 OMIM 11780003 MCM5 minichromosome maintenance complex component 5 gene DOID:0080255 Meier-Gorlin syndrome 8 ISO RGD:1315334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 8 PMID:25741868|PMID:28198391|PMID:28492532 11780003 MCM5 minichromosome maintenance complex component 5 gene DOID:1574 alcohol use disorder ISO RGD:1306616 D RGD:9068941 20200609 RGD PMID:23095216|REF_RGD_ID:10045658 11780003 MCM5 minichromosome maintenance complex component 5 gene DOID:630 genetic disease ISO RGD:1315334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11780025 KLHL24 kelch like family member 24 gene DOID:0080511 epidermolysis bullosa simplex generalized type ISO RGD:1603221 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type PMID:25741868|PMID:27798626|PMID:27889062|PMID:29779254|PMID:30120936|PMID:30226531|PMID:34292882|PMID:34740256 11780025 KLHL24 kelch like family member 24 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1603221 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11780025 KLHL24 kelch like family member 24 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1603221 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11780025 KLHL24 kelch like family member 24 gene DOID:0111546 Currarino syndrome ISO RGD:1603221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11780025 KLHL24 kelch like family member 24 gene DOID:630 genetic disease ISO RGD:1603221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11780025 KLHL24 kelch like family member 24 gene DOID:9000523 Generalized Epidermolysis Bullosa Simplex 1B ISO RGD:1603221 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type PMID:25741868|PMID:27798626|PMID:27889062|PMID:29779254|PMID:30120936|PMID:30226531|PMID:34292882|PMID:34740256 11780025 KLHL24 kelch like family member 24 gene DOID:9006455 Generalized Epidermolysis Bullosa Simplex 6 with Scarring and Hair Loss ISO RGD:1603221 D RGD:7240710 20190315 OMIM 11780025 KLHL24 kelch like family member 24 gene DOID:9006455 Generalized Epidermolysis Bullosa Simplex 6 with Scarring and Hair Loss ISO RGD:1603221 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss PMID:25741868|PMID:27798626|PMID:27889062|PMID:29779254|PMID:30120936|PMID:30226531|PMID:31649980|PMID:34292882|PMID:34740256 11780025 KLHL24 kelch like family member 24 gene DOID:9009148 Hypertrophic Cardiomyopathy 29 ISO RGD:1603221 D RGD:7240710 20230215 OMIM 11780025 KLHL24 kelch like family member 24 gene DOID:9009148 Hypertrophic Cardiomyopathy 29 ISO RGD:1603221 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies PMID:30715372 11780047 TANGO6 transport and golgi organization 6 homolog gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1606243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11780047 TANGO6 transport and golgi organization 6 homolog gene DOID:2661 myoepithelioma ISO RGD:1606243 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11780047 TANGO6 transport and golgi organization 6 homolog gene DOID:630 genetic disease ISO RGD:1606243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780073 COG4 component of oligomeric golgi complex 4 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1321515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11780073 COG4 component of oligomeric golgi complex 4 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1321515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11780073 COG4 component of oligomeric golgi complex 4 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1321515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11780073 COG4 component of oligomeric golgi complex 4 gene DOID:0070262 congenital disorder of glycosylation type IIj ISO RGD:1321515 D RGD:7240710 20180130 OMIM 11780073 COG4 component of oligomeric golgi complex 4 gene DOID:0070262 congenital disorder of glycosylation type IIj ISO RGD:1321515 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: COG4-CDG PMID:16199547|PMID:19494034|PMID:19651599|PMID:21185756|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30290151|PMID:31949312|PMID:32078278|PMID:34298581|PMID:8074143 11780073 COG4 component of oligomeric golgi complex 4 gene DOID:0111673 Saul-Wilson syndrome ISO RGD:1321515 D RGD:7240710 20190315 OMIM 11780073 COG4 component of oligomeric golgi complex 4 gene DOID:0111673 Saul-Wilson syndrome ISO RGD:1321515 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC DYSPLASIA | ClinVar Annotator: match by term: Microcephalic osteodysplastic dysplasia, Saul-Wilson type PMID:2309787|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30290151|PMID:31949312|PMID:32078278|PMID:8074143 11780073 COG4 component of oligomeric golgi complex 4 gene DOID:630 genetic disease ISO RGD:1321515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:30290151|PMID:31949312|PMID:32078278|PMID:8074143 11780073 COG4 component of oligomeric golgi complex 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1321515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11780097 FIP1L1 factor interacting with PAPOLA and CPSF1 gene DOID:6000 congestive heart failure ISO RGD:1319628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28347583 11780097 FIP1L1 factor interacting with PAPOLA and CPSF1 gene DOID:630 genetic disease ISO RGD:1319628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780097 FIP1L1 factor interacting with PAPOLA and CPSF1 gene DOID:9001371 Eosinophilia ISO RGD:1319628 D RGD:9068941 20200609 RGD DNA:gene fusion PMID:23114151|REF_RGD_ID:11075088 11780097 FIP1L1 factor interacting with PAPOLA and CPSF1 gene DOID:9001997 Pdgfra-Associated Chronic Eosinophilic Leukemia ISO RGD:1319628 D RGD:9068941 20200609 RGD DNA:gene fusion PMID:22806436|REF_RGD_ID:11075089 11780097 FIP1L1 factor interacting with PAPOLA and CPSF1 gene DOID:999 hypereosinophilic syndrome ISO RGD:1319628 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:16778211|PMID:28347583|PMID:31036733 11780137 CR1 complement C3b/C4b receptor 1 (Knops blood group) gene DOID:0050589 inflammatory bowel disease ISO RGD:1603411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 11780137 CR1 complement C3b/C4b receptor 1 (Knops blood group) gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1603411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 11780137 CR1 complement C3b/C4b receptor 1 (Knops blood group) gene DOID:10652 Alzheimer's disease ISO RGD:1603411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19734903|PMID:21460841 11780137 CR1 complement C3b/C4b receptor 1 (Knops blood group) gene DOID:12365 malaria ISO RGD:1603411 D RGD:7240710 20230505 OMIM 11780137 CR1 complement C3b/C4b receptor 1 (Knops blood group) gene DOID:12365 malaria ISO RGD:1603411 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malaria, severe, resistance to | ClinVar Annotator: match by term: Malaria, susceptibility to PMID:10528197|PMID:14694201|PMID:20855594|PMID:25741868 11780137 CR1 complement C3b/C4b receptor 1 (Knops blood group) gene DOID:12849 autistic disorder ISO RGD:1603411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11780137 CR1 complement C3b/C4b receptor 1 (Knops blood group) gene DOID:14067 Plasmodium falciparum malaria ISO RGD:1603411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11724985|PMID:9230440 11780137 CR1 complement C3b/C4b receptor 1 (Knops blood group) gene DOID:1459 hypothyroidism ISO RGD:1603411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:25741868 11780137 CR1 complement C3b/C4b receptor 1 (Knops blood group) gene DOID:1540 parathyroid carcinoma ISO RGD:1603411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11780137 CR1 complement C3b/C4b receptor 1 (Knops blood group) gene DOID:630 genetic disease ISO RGD:1603411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780137 CR1 complement C3b/C4b receptor 1 (Knops blood group) gene DOID:9002775 Cognitive Dysfunction ISO RGD:1603411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30503753 11780137 CR1 complement C3b/C4b receptor 1 (Knops blood group) gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1603411 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11780137 CR1 complement C3b/C4b receptor 1 (Knops blood group) gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11780150 LNX1 ligand of numb-protein X 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1317771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:26614431 11780150 LNX1 ligand of numb-protein X 1 gene DOID:630 genetic disease ISO RGD:1317771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780173 SPNS1 SPNS lysolipid transporter 1, lysophospholipid gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1602314 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 11780173 SPNS1 SPNS lysolipid transporter 1, lysophospholipid gene DOID:10316 pneumoconiosis ISO RGD:1602314 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 11780173 SPNS1 SPNS lysolipid transporter 1, lysophospholipid gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1602314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 11780173 SPNS1 SPNS lysolipid transporter 1, lysophospholipid gene DOID:5419 schizophrenia ISO RGD:1602314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11780173 SPNS1 SPNS lysolipid transporter 1, lysophospholipid gene DOID:630 genetic disease ISO RGD:1602314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780173 SPNS1 SPNS lysolipid transporter 1, lysophospholipid gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1602314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 11780174 USP6 ubiquitin specific peptidase 6 gene DOID:630 genetic disease ISO RGD:1346560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780208 IGLL1 immunoglobulin lambda like polypeptide 1 gene DOID:0081135 agammaglobulinemia 2 ISO RGD:1344157 D RGD:7240710 20190327 OMIM 11780208 IGLL1 immunoglobulin lambda like polypeptide 1 gene DOID:0081135 agammaglobulinemia 2 ISO RGD:1344157 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:17576681|PMID:25502423|PMID:25741868|PMID:28492532|PMID:32888943|PMID:9419212|PMID:9536098 11780208 IGLL1 immunoglobulin lambda like polypeptide 1 gene DOID:1826 epilepsy ISO RGD:1344157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11780208 IGLL1 immunoglobulin lambda like polypeptide 1 gene DOID:2583 agammaglobulinemia ISO RGD:1344157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11780208 IGLL1 immunoglobulin lambda like polypeptide 1 gene DOID:5419 schizophrenia ISO RGD:1344157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11780208 IGLL1 immunoglobulin lambda like polypeptide 1 gene DOID:630 genetic disease ISO RGD:1344157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11780237 TAF9 TATA-box binding protein associated factor 9 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1314621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11780237 TAF9 TATA-box binding protein associated factor 9 gene DOID:630 genetic disease ISO RGD:1314621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780237 TAF9 TATA-box binding protein associated factor 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11780259 TTLL5 tubulin tyrosine ligase like 5 gene DOID:0050572 cone-rod dystrophy ISO RGD:1350630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868 11780259 TTLL5 tubulin tyrosine ligase like 5 gene DOID:0111025 cone-rod dystrophy 19 ISO RGD:1350630 D RGD:7240710 20180130 OMIM 11780259 TTLL5 tubulin tyrosine ligase like 5 gene DOID:0111025 cone-rod dystrophy 19 ISO RGD:1350630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 19 PMID:24791901|PMID:25741868|PMID:27162334|PMID:28173158|PMID:28492532 11780259 TTLL5 tubulin tyrosine ligase like 5 gene DOID:10584 retinitis pigmentosa ISO RGD:1350630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868 11780259 TTLL5 tubulin tyrosine ligase like 5 gene DOID:1059 intellectual disability ISO RGD:1350630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11780259 TTLL5 tubulin tyrosine ligase like 5 gene DOID:630 genetic disease ISO RGD:1350630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11780259 TTLL5 tubulin tyrosine ligase like 5 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1350630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11780259 TTLL5 tubulin tyrosine ligase like 5 gene DOID:8501 fundus dystrophy ISO RGD:1350630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24791901|PMID:25741868|PMID:27162334|PMID:28173158|PMID:28492532 11780259 TTLL5 tubulin tyrosine ligase like 5 gene DOID:980 choroidal sclerosis ISO RGD:1350630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central areolar choroidal dystrophy PMID:25741868 11780344 CT83 cancer/testis antigen 83 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11780344 CT83 cancer/testis antigen 83 gene DOID:12849 autistic disorder ISO RGD:1605263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11780344 CT83 cancer/testis antigen 83 gene DOID:630 genetic disease ISO RGD:1605263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780350 HIP1 huntingtin interacting protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11780350 HIP1 huntingtin interacting protein 1 gene DOID:630 genetic disease ISO RGD:736003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780350 HIP1 huntingtin interacting protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736003 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11780350 HIP1 huntingtin interacting protein 1 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:736003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 11780361 LNPK lunapark, ER junction formation factor gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1323819 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11780361 LNPK lunapark, ER junction formation factor gene DOID:630 genetic disease ISO RGD:1323819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780361 LNPK lunapark, ER junction formation factor gene DOID:9009221 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM ISO RGD:1323819 D RGD:7240710 20190315 OMIM 11780361 LNPK lunapark, ER junction formation factor gene DOID:9009221 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM ISO RGD:1323819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum PMID:25741868|PMID:30032983 11780404 WDR5B WD repeat domain 5B gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1318414 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 11780404 WDR5B WD repeat domain 5B gene DOID:630 genetic disease ISO RGD:1318414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780404 WDR5B WD repeat domain 5B gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1318414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 11780404 WDR5B WD repeat domain 5B gene DOID:9270 alkaptonuria ISO RGD:1318414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11780427 ZNF182 zinc finger protein 182 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11780427 ZNF182 zinc finger protein 182 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1342789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 11780427 ZNF182 zinc finger protein 182 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1342789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11780427 ZNF182 zinc finger protein 182 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1342789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11780427 ZNF182 zinc finger protein 182 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1342789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11780427 ZNF182 zinc finger protein 182 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1342789 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 11780427 ZNF182 zinc finger protein 182 gene DOID:12849 autistic disorder ISO RGD:1342789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11780427 ZNF182 zinc finger protein 182 gene DOID:630 genetic disease ISO RGD:1342789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780446 LOC100976603 olfactory receptor 51E2 gene DOID:0080773 delta beta-thalassemia ISO RGD:736827 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11780446 LOC100976603 olfactory receptor 51E2 gene DOID:630 genetic disease ISO RGD:736827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780446 LOC100976603 olfactory receptor 51E2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:628858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11780446 LOC100976603 olfactory receptor 51E2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:628858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11780459 OXNAD1 oxidoreductase NAD binding domain containing 1 gene DOID:0060417 3p deletion syndrome ISO RGD:1603935 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 11780459 OXNAD1 oxidoreductase NAD binding domain containing 1 gene DOID:630 genetic disease ISO RGD:1603935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780495 UNC5CL unc-5 family C-terminal like gene DOID:630 genetic disease ISO RGD:1342658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780495 UNC5CL unc-5 family C-terminal like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342658 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11780512 TMEM161A transmembrane protein 161A gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1603037 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 11780512 TMEM161A transmembrane protein 161A gene DOID:630 genetic disease ISO RGD:1603037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780512 TMEM161A transmembrane protein 161A gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1603037 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11780531 RPL15 ribosomal protein L15 gene DOID:0111882 Diamond-Blackfan anemia 12 ISO RGD:736821 D RGD:7240710 20180130 OMIM 11780531 RPL15 ribosomal protein L15 gene DOID:0111882 Diamond-Blackfan anemia 12 ISO RGD:736821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 PMID:23812780|PMID:25741868|PMID:28492532 11780531 RPL15 ribosomal protein L15 gene DOID:630 genetic disease ISO RGD:736821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11780531 RPL15 ribosomal protein L15 gene DOID:9000217 Stomach Neoplasms ISO RGD:736821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11780531 RPL15 ribosomal protein L15 gene DOID:9000918 Disease Progression ISO RGD:736821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11780542 RAPSN receptor associated protein of the synapse gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1314835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11780542 RAPSN receptor associated protein of the synapse gene DOID:0080000 muscular disease ISO RGD:1314835 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9668287 11780542 RAPSN receptor associated protein of the synapse gene DOID:0110675 congenital myasthenic syndrome 11 ISO RGD:1314835 D RGD:7240710 20180829 OMIM 11780542 RAPSN receptor associated protein of the synapse gene DOID:0110675 congenital myasthenic syndrome 11 ISO RGD:1314835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 11 PMID:11791205|PMID:12651869|PMID:12730725|PMID:12796535|PMID:12807980|PMID:12929188|PMID:14504330|PMID:14659409|PMID:14729848|PMID:15036330|PMID:15145336|PMID:15282317|PMID:15286164|PMID:15328566|PMID:15482960|PMID:16199547|PMID:16931511|PMID:16945936|PMID:17190963|PMID:17594401|PMID:17686188|PMID:17878953|PMID:18179903|PMID:19620612|PMID:20157724|PMID:20301347|PMID:20562457|PMID:20930056|PMID:21228398|PMID:21305573|PMID:22326364|PMID:2245297|PMID:22678886|PMID:24033266|PMID:24319099|PMID:25194721|PMID:25264167|PMID:25741868|PMID:25741902|PMID:26147564|PMID:26467025|PMID:26782015|PMID:26910802|PMID:26927095|PMID:28492532|PMID:28495245|PMID:29053879|PMID:29054425|PMID:29189923|PMID:30124556|PMID:30266223|PMID:32070632|PMID:32528171|PMID:34106991 11780542 RAPSN receptor associated protein of the synapse gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:1314835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C PMID:11791205|PMID:12651869|PMID:12730725|PMID:12796535|PMID:12807980|PMID:12929188|PMID:14504330|PMID:14659409|PMID:14729848|PMID:15036330|PMID:15286164|PMID:15328566|PMID:15482960|PMID:16945936|PMID:17190963|PMID:19620612|PMID:20157724|PMID:20301347|PMID:20562457|PMID:20930056|PMID:21228398|PMID:21305573|PMID:22678886|PMID:24033266|PMID:24319099|PMID:25194721|PMID:25264167|PMID:25741868|PMID:26467025|PMID:26782015|PMID:26910802|PMID:26927095|PMID:28492532|PMID:29053879|PMID:29054425|PMID:29189923|PMID:30124556|PMID:30266223 11780542 RAPSN receptor associated protein of the synapse gene DOID:0111375 fetal akinesia deformation sequence syndrome ISO RGD:1314835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 PMID:12651869|PMID:15145336|PMID:15282317|PMID:19620612|PMID:22326364|PMID:2245297|PMID:25741868|PMID:28492532 11780542 RAPSN receptor associated protein of the synapse gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1314835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: RAPSN-Related Disorders PMID:11791205|PMID:12651869|PMID:12730725|PMID:12796535|PMID:12807980|PMID:12929188|PMID:14504330|PMID:14659409|PMID:14729848|PMID:15036330|PMID:15145336|PMID:15282317|PMID:15286164|PMID:15328566|PMID:15482960|PMID:16199547|PMID:16931511|PMID:16945936|PMID:17190963|PMID:17576681|PMID:17594401|PMID:17686188|PMID:17878953|PMID:18179903|PMID:19620612|PMID:20157724|PMID:20562457|PMID:20930056|PMID:21228398|PMID:21305573|PMID:21520333|PMID:22326364|PMID:2245297|PMID:22678886|PMID:24033266|PMID:24319099|PMID:25194721|PMID:25264167|PMID:25741868|PMID:25741902|PMID:26147564|PMID:26467025|PMID:26782015|PMID:26910802|PMID:26927095|PMID:27966543|PMID:28492532|PMID:28495245|PMID:29053879|PMID:29054425|PMID:29189923|PMID:29478601|PMID:30124556|PMID:30266223|PMID:31680123|PMID:32070632|PMID:33502061|PMID:9536098 11780542 RAPSN receptor associated protein of the synapse gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1314835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: RAPSN-Related Disorders PMID:11791205|PMID:12651869|PMID:12730725|PMID:12796535|PMID:12807980|PMID:12929188|PMID:14504330|PMID:14659409|PMID:14729848|PMID:15036330|PMID:15145336|PMID:15282317|PMID:15286164|PMID:15328566|PMID:15482960|PMID:16199547|PMID:16931511|PMID:16945936|PMID:17190963|PMID:17576681|PMID:17594401|PMID:17686188|PMID:17878953|PMID:18179903|PMID:19620612|PMID:20157724|PMID:20301347|PMID:20562457|PMID:20930056|PMID:21228398|PMID:21305573|PMID:21520333|PMID:22326364|PMID:2245297|PMID:22678886|PMID:24033266|PMID:24319099|PMID:25194721|PMID:25264167|PMID:25741868|PMID:25741902|PMID:26147564|PMID:26467025|PMID:26782015|PMID:26910802|PMID:26927095|PMID:27966543|PMID:28492532|PMID:28495245|PMID:29053879|PMID:29054425|PMID:29189923|PMID:29478601|PMID:30124556|PMID:30266093|PMID:30266223|PMID:31127727|PMID:31680123|PMID:31965297|PMID:32070632|PMID:32528171|PMID:33255631|PMID:33502061|PMID:34106991|PMID:9536098 11780542 RAPSN receptor associated protein of the synapse gene DOID:0111378 fetal akinesia deformation sequence syndrome 2 ISO RGD:1314835 D RGD:7240710 20190501 OMIM 11780542 RAPSN receptor associated protein of the synapse gene DOID:0111378 fetal akinesia deformation sequence syndrome 2 ISO RGD:1314835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 2 PMID:12651869|PMID:14504330|PMID:15036330|PMID:15145336|PMID:15282317|PMID:18179903|PMID:18252226|PMID:19620612|PMID:21520333|PMID:22326364|PMID:2245297|PMID:25741868|PMID:26467025|PMID:28492532 11780542 RAPSN receptor associated protein of the synapse gene DOID:1059 intellectual disability ISO RGD:1314835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11780542 RAPSN receptor associated protein of the synapse gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 11780542 RAPSN receptor associated protein of the synapse gene DOID:3635 congenital myasthenic syndrome ISO RGD:1314835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:11791205|PMID:12651869|PMID:12730725|PMID:12796535|PMID:12807980|PMID:12929188|PMID:14504330|PMID:14659409|PMID:14729848|PMID:15036330|PMID:15145336|PMID:15282317|PMID:15286164|PMID:15328566|PMID:15482960|PMID:16199547|PMID:16945936|PMID:17190963|PMID:17576681|PMID:17594401|PMID:17686188|PMID:17878953|PMID:18179903|PMID:19620612|PMID:20157724|PMID:20301347|PMID:20562457|PMID:20930056|PMID:21228398|PMID:21305573|PMID:22326364|PMID:2245297|PMID:22678886|PMID:24033266|PMID:24319099|PMID:25194721|PMID:25264167|PMID:25741868|PMID:26467025|PMID:26782015|PMID:26910802|PMID:26927095|PMID:28492532|PMID:29053879|PMID:29054425|PMID:29189923|PMID:30124556|PMID:30266223|PMID:31680123|PMID:31965297|PMID:33502061|PMID:9536098 11780542 RAPSN receptor associated protein of the synapse gene DOID:417 autoimmune disease ISO RGD:1314835 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9668287 11780542 RAPSN receptor associated protein of the synapse gene DOID:423 myopathy ISO RGD:1314835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy PMID:11791205|PMID:12651869|PMID:12730725|PMID:12796535|PMID:12807980|PMID:12929188|PMID:14504330|PMID:14659409|PMID:14729848|PMID:15036330|PMID:15286164|PMID:15328566|PMID:15482960|PMID:16931511|PMID:16945936|PMID:17190963|PMID:19620612|PMID:20157724|PMID:20301347|PMID:20562457|PMID:20930056|PMID:21228398|PMID:21305573|PMID:22678886|PMID:24033266|PMID:24319099|PMID:25194721|PMID:25264167|PMID:25741868|PMID:26467025|PMID:26782015|PMID:26910802|PMID:26927095|PMID:28492532|PMID:29053879|PMID:29054425|PMID:29189923|PMID:30124556|PMID:30266223|PMID:32070632|PMID:32528171|PMID:34106991 11780542 RAPSN receptor associated protein of the synapse gene DOID:630 genetic disease ISO RGD:1314835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11791205|PMID:12651869|PMID:12730725|PMID:12796535|PMID:12807980|PMID:12929188|PMID:14504330|PMID:14659409|PMID:14729848|PMID:15036330|PMID:15286164|PMID:15328566|PMID:15482960|PMID:16945936|PMID:17190963|PMID:19620612|PMID:20157724|PMID:20301347|PMID:20562457|PMID:20930056|PMID:21228398|PMID:21305573|PMID:22678886|PMID:24033266|PMID:24319099|PMID:25194721|PMID:25264167|PMID:25741868|PMID:26467025|PMID:26782015|PMID:26910802|PMID:26927095|PMID:28492532|PMID:29053879|PMID:29054425|PMID:29189923|PMID:30124556|PMID:30266223 11780542 RAPSN receptor associated protein of the synapse gene DOID:9008086 Developmental Disabilities ISO RGD:1314835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16931511|PMID:17686188|PMID:25741868|PMID:25741902|PMID:26467025|PMID:28492532 11780542 RAPSN receptor associated protein of the synapse gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:1311592 D RGD:9068941 20200609 RGD protein:decreased expression:neuromuscular junction PMID:19344765|REF_RGD_ID:8549750 11780542 RAPSN receptor associated protein of the synapse gene DOID:9008386 Hydrops Fetalis ISO RGD:1314835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrops fetalis PMID:10449659|PMID:25741868|PMID:31680349 11780542 RAPSN receptor associated protein of the synapse gene DOID:9008585 Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency ISO RGD:1314835 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11780557 TBCA tubulin folding cofactor A gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1323048 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 11780557 TBCA tubulin folding cofactor A gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1323048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9527842 11780557 TBCA tubulin folding cofactor A gene DOID:630 genetic disease ISO RGD:1323048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780557 TBCA tubulin folding cofactor A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11780565 BPIFB2 BPI fold containing family B member 2 gene DOID:630 genetic disease ISO RGD:1322016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780585 LOC100969587 olfactory receptor 2Z1 gene DOID:10283 prostate cancer ISO RGD:1347587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11780585 LOC100969587 olfactory receptor 2Z1 gene DOID:12849 autistic disorder ISO RGD:1347587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11780585 LOC100969587 olfactory receptor 2Z1 gene DOID:630 genetic disease ISO RGD:1347587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780591 KIAA1328 KIAA1328 ortholog gene DOID:1059 intellectual disability ISO RGD:1343837 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11780591 KIAA1328 KIAA1328 ortholog gene DOID:630 genetic disease ISO RGD:1343837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780616 LOC100971047 mucin-17 gene DOID:0060180 colitis ISO RGD:3124 D RGD:9068941 20210129 RGD mRNA:increased expression:ileum, colon PMID:16964428|REF_RGD_ID:1625545 11780616 LOC100971047 mucin-17 gene DOID:0060180 colitis treatment ISO RGD:3124 D RGD:9068941 20210129 RGD PMID:23395625|REF_RGD_ID:7349360 11780616 LOC100971047 mucin-17 gene DOID:10283 prostate cancer ISO RGD:1312511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11780616 LOC100971047 mucin-17 gene DOID:10754 otitis media ISO RGD:3124 D RGD:9068941 20210129 RGD associated with Pneumococcal Infections PMID:11576628|REF_RGD_ID:2303743 11780616 LOC100971047 mucin-17 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11780616 LOC100971047 mucin-17 gene DOID:5082 liver cirrhosis ISO RGD:3124 D RGD:9068941 20210129 RGD mRNA:increased expression:ileum PMID:22172882|REF_RGD_ID:7349362 11780616 LOC100971047 mucin-17 gene DOID:630 genetic disease ISO RGD:1312511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780616 LOC100971047 mucin-17 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:3124 D RGD:9068941 20210129 RGD mRNA, protein:decreased expression:bile duct PMID:21775928|REF_RGD_ID:7364757 11780616 LOC100971047 mucin-17 gene DOID:9002992 Nematode Infections ISO RGD:3124 D RGD:9068941 20210129 RGD mRNA:increased expression:intestine PMID:16689826|REF_RGD_ID:2303607 11780616 LOC100971047 mucin-17 gene DOID:9446 cholangitis ISO RGD:3124 D RGD:9068941 20210129 RGD mRNA:increased expression:bile duct PMID:19032457|REF_RGD_ID:2325170 11780630 OSTN osteocrin gene DOID:5419 schizophrenia ISO RGD:1342782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11780630 OSTN osteocrin gene DOID:630 genetic disease ISO RGD:1342782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780637 CSN2 casein beta gene DOID:305 carcinoma ISO RGD:1352883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942|PMID:9879772 11780637 CSN2 casein beta gene DOID:630 genetic disease ISO RGD:1352883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780637 CSN2 casein beta gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1352883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942|PMID:9879772 11780637 CSN2 casein beta gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1352883 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11780637 CSN2 casein beta gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1352883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942|PMID:9879772 11780637 CSN2 casein beta gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:61981 D RGD:9068941 20220324 RGD mRNA:increased expression:mammary gland (rat) PMID:16316942|REF_RGD_ID:2306898 11780650 COMMD1 copper metabolism domain containing 1 gene DOID:1205 allergic disease ISO RGD:1323402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22216203 11780650 COMMD1 copper metabolism domain containing 1 gene DOID:5082 liver cirrhosis ISO RGD:1323402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17919502 11780650 COMMD1 copper metabolism domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1323402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11780650 COMMD1 copper metabolism domain containing 1 gene DOID:630 genetic disease ISO RGD:1323402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780650 COMMD1 copper metabolism domain containing 1 gene DOID:893 Wilson disease ISO RGD:12302435 D RGD:9068941 20230427 OMIA Copper toxicosis, COMMD1-related PMID:10384054|PMID:10442980|PMID:10585777|PMID:10772489|PMID:10803990|PMID:10818210|PMID:10901220|PMID:11234968|PMID:11393371|PMID:11809725|PMID:12450209|PMID:12547404|PMID:12648098|PMID:12816967|PMID:12925897|PMID:1380748|PMID:14568250|PMID:15028882|PMID:15205742|PMID:15566097|PMID:16293123|PMID:16649058|PMID:16868807|PMID:17099181|PMID:17355395|PMID:17572118|PMID:18305350|PMID:22029820|PMID:22879914|PMID:24758744|PMID:31179308|PMID:31504675|PMID:31557851|PMID:32053895|PMID:33129558|PMID:3343179|PMID:33668783|PMID:37038639|PMID:6639527|PMID:6710813|PMID:6869968|PMID:6939891|PMID:7065120|PMID:7114265|PMID:7212417|PMID:8432554|PMID:8989491|PMID:9587195|PMID:9949209 11780650 COMMD1 copper metabolism domain containing 1 gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:1323402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 11780650 COMMD1 copper metabolism domain containing 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1323402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23583003 11780650 COMMD1 copper metabolism domain containing 1 gene DOID:9006855 Dog Diseases ISO RGD:1323402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17919502 11780650 COMMD1 copper metabolism domain containing 1 gene DOID:9008510 Chronic Hepatitis ISO RGD:1323402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914|PMID:25053573 11780657 DIP2A disco interacting protein 2 homolog A gene DOID:0060041 autism spectrum disorder ISO RGD:1319135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11780657 DIP2A disco interacting protein 2 homolog A gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1319135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 11780657 DIP2A disco interacting protein 2 homolog A gene DOID:12849 autistic disorder ISO RGD:1319135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11780657 DIP2A disco interacting protein 2 homolog A gene DOID:2843 long QT syndrome ISO RGD:1319135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11780657 DIP2A disco interacting protein 2 homolog A gene DOID:630 genetic disease ISO RGD:1319135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11780716 AGO2 argonaute RISC catalytic component 2 gene DOID:1790 malignant mesothelioma ISO RGD:732767 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 11780716 AGO2 argonaute RISC catalytic component 2 gene DOID:630 genetic disease ISO RGD:732767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:33199684 11780716 AGO2 argonaute RISC catalytic component 2 gene DOID:8692 myeloid leukemia ISO RGD:732767 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21535412 11780716 AGO2 argonaute RISC catalytic component 2 gene DOID:9003372 LESSEL-KREIENKAMP SYNDROME ISO RGD:732767 D RGD:7240710 20210217 OMIM 11780716 AGO2 argonaute RISC catalytic component 2 gene DOID:9003372 LESSEL-KREIENKAMP SYNDROME ISO RGD:732767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lessel-Kreienkamp syndrome PMID:25741868|PMID:33199684 11780716 AGO2 argonaute RISC catalytic component 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732767 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11780716 AGO2 argonaute RISC catalytic component 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732767 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20643829 11780739 LRRFIP1 LRR binding FLII interacting protein 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1348771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11780739 LRRFIP1 LRR binding FLII interacting protein 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1348771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11780739 LRRFIP1 LRR binding FLII interacting protein 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1348771 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11780739 LRRFIP1 LRR binding FLII interacting protein 1 gene DOID:1059 intellectual disability ISO RGD:1348771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11780739 LRRFIP1 LRR binding FLII interacting protein 1 gene DOID:2661 myoepithelioma ISO RGD:1348771 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11780739 LRRFIP1 LRR binding FLII interacting protein 1 gene DOID:630 genetic disease ISO RGD:1348771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780739 LRRFIP1 LRR binding FLII interacting protein 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1348771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11780739 LRRFIP1 LRR binding FLII interacting protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348771 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11780791 NPDC1 neural proliferation, differentiation and control 1 gene DOID:0050777 Joubert syndrome ISO RGD:1353727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11780791 NPDC1 neural proliferation, differentiation and control 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1353727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11780791 NPDC1 neural proliferation, differentiation and control 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1353727 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11780791 NPDC1 neural proliferation, differentiation and control 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1353727 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11780791 NPDC1 neural proliferation, differentiation and control 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1353727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11780791 NPDC1 neural proliferation, differentiation and control 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1353727 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11780791 NPDC1 neural proliferation, differentiation and control 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 11780791 NPDC1 neural proliferation, differentiation and control 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353727 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11780791 NPDC1 neural proliferation, differentiation and control 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1353727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11780791 NPDC1 neural proliferation, differentiation and control 1 gene DOID:1826 epilepsy ISO RGD:1353727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11780791 NPDC1 neural proliferation, differentiation and control 1 gene DOID:3652 Leigh disease ISO RGD:1353727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11780791 NPDC1 neural proliferation, differentiation and control 1 gene DOID:630 genetic disease ISO RGD:1353727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780791 NPDC1 neural proliferation, differentiation and control 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11780791 NPDC1 neural proliferation, differentiation and control 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1353727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11780808 DNAJC10 DnaJ heat shock protein family (Hsp40) member C10 gene DOID:14566 disease of cellular proliferation ISO RGD:1317224 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17353921 11780808 DNAJC10 DnaJ heat shock protein family (Hsp40) member C10 gene DOID:630 genetic disease ISO RGD:1317224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780808 DNAJC10 DnaJ heat shock protein family (Hsp40) member C10 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1317224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11780836 ZGRF1 zinc finger GRF-type containing 1 gene DOID:0111275 speech-language disorder-1 ISO RGD:1602323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood apraxia of speech PMID:27120335 11780836 ZGRF1 zinc finger GRF-type containing 1 gene DOID:12271 aniridia ISO RGD:1602323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 11780836 ZGRF1 zinc finger GRF-type containing 1 gene DOID:630 genetic disease ISO RGD:1602323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780868 CDH16 cadherin 16 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1323200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11780868 CDH16 cadherin 16 gene DOID:0110255 cataract 5 multiple types ISO RGD:1323200 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 11780868 CDH16 cadherin 16 gene DOID:1781 thyroid gland cancer ISO RGD:1323200 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:Thyroid PMID:22028439|REF_RGD_ID:13792552 11780868 CDH16 cadherin 16 gene DOID:630 genetic disease ISO RGD:1323200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780890 GLTP glycolipid transfer protein gene DOID:630 genetic disease ISO RGD:1602720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780899 ZBP1 Z-DNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1351033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780914 WDR35 WD repeat domain 35 gene DOID:0050577 cranioectodermal dysplasia ISO RGD:1315220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome PMID:22486404|PMID:24033266|PMID:25741868|PMID:25914204|PMID:28332779|PMID:28492532|PMID:29068549 11780914 WDR35 WD repeat domain 35 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1315220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:22486404|PMID:24033266|PMID:25741868|PMID:25914204|PMID:27158779|PMID:28332779|PMID:28400947|PMID:28492532|PMID:29068549 11780914 WDR35 WD repeat domain 35 gene DOID:0070299 multiple epiphyseal dysplasia 5 ISO RGD:1315220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MICROEPIPHYSEAL DYSPLASIA, BILATERAL HEREDITARY PMID:25741868|PMID:28492532 11780914 WDR35 WD repeat domain 35 gene DOID:0080804 cranioectodermal dysplasia 2 ISO RGD:1315220 D RGD:7240710 20180130 OMIM 11780914 WDR35 WD repeat domain 35 gene DOID:0080804 cranioectodermal dysplasia 2 ISO RGD:1315220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 PMID:16199547|PMID:17576681|PMID:20817137|PMID:21473986|PMID:22486404|PMID:22987818|PMID:24027799|PMID:24033266|PMID:24123776|PMID:25326635|PMID:25741868|PMID:25908617|PMID:25914204|PMID:26691894|PMID:27158779|PMID:28332779|PMID:28400947|PMID:28492532|PMID:28870638|PMID:29068549|PMID:33369054|PMID:33606107|PMID:9536098 11780914 WDR35 WD repeat domain 35 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1315220 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:22486404|PMID:24033266|PMID:25741868|PMID:25914204|PMID:28332779|PMID:28492532|PMID:29068549 11780914 WDR35 WD repeat domain 35 gene DOID:0110090 short-rib thoracic dysplasia 7 with or without polydactyly ISO RGD:1315220 D RGD:7240710 20180130 OMIM 11780914 WDR35 WD repeat domain 35 gene DOID:0110090 short-rib thoracic dysplasia 7 with or without polydactyly ISO RGD:1315220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly PMID:17935248|PMID:21473986|PMID:22486404|PMID:24033266|PMID:25741868|PMID:25908617|PMID:25914204|PMID:27158779|PMID:28332779|PMID:28400947|PMID:28492532|PMID:29068549 11780914 WDR35 WD repeat domain 35 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1315220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:25741868|PMID:28492532|PMID:28870638|PMID:29068549 11780914 WDR35 WD repeat domain 35 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1315220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:25741868|PMID:28492532 11780914 WDR35 WD repeat domain 35 gene DOID:12721 multiple epiphyseal dysplasia ISO RGD:1315220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant PMID:25741868|PMID:28492532 11780914 WDR35 WD repeat domain 35 gene DOID:2340 craniosynostosis ISO RGD:1315220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20817137 11780914 WDR35 WD repeat domain 35 gene DOID:5082 liver cirrhosis ISO RGD:1564116 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:18472094|REF_RGD_ID:11553927 11780914 WDR35 WD repeat domain 35 gene DOID:630 genetic disease ISO RGD:1315220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24123776|PMID:25326635|PMID:25741868|PMID:28492532 11780914 WDR35 WD repeat domain 35 gene DOID:65 connective tissue disease ISO RGD:1315220 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532|PMID:29068549 11780914 WDR35 WD repeat domain 35 gene DOID:9003056 Short-Rib Thoracic Dysplasia 20 with Polydactyly ISO RGD:1315220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7/20 with polydactyly, digenic PMID:25741868|PMID:27158779|PMID:28400947|PMID:29068549 11780914 WDR35 WD repeat domain 35 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1564116 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:20224876|REF_RGD_ID:11553923 11780949 LOC100983642 putative uncharacterized protein RUSC1-AS1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1603516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11780949 LOC100983642 putative uncharacterized protein RUSC1-AS1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1603516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11780949 LOC100983642 putative uncharacterized protein RUSC1-AS1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11780949 LOC100983642 putative uncharacterized protein RUSC1-AS1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603516 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11780949 LOC100983642 putative uncharacterized protein RUSC1-AS1 gene DOID:1540 parathyroid carcinoma ISO RGD:1603516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11780949 LOC100983642 putative uncharacterized protein RUSC1-AS1 gene DOID:5812 MHC class II deficiency ISO RGD:1603516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11780949 LOC100983642 putative uncharacterized protein RUSC1-AS1 gene DOID:630 genetic disease ISO RGD:1603516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780949 LOC100983642 putative uncharacterized protein RUSC1-AS1 gene DOID:9003076 Porokeratosis 9, Multiple Types ISO RGD:1603516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Porokeratosis 9, multiple types PMID:26202976 11780949 LOC100983642 putative uncharacterized protein RUSC1-AS1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11780966 C3H3orf70 chromosome 3 C3orf70 homolog gene DOID:0111546 Currarino syndrome ISO RGD:1605238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11780966 C3H3orf70 chromosome 3 C3orf70 homolog gene DOID:630 genetic disease ISO RGD:1605238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780966 C3H3orf70 chromosome 3 C3orf70 homolog gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1562339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11780972 PGLS 6-phosphogluconolactonase gene DOID:11476 osteoporosis ISO RGD:1315936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 11780972 PGLS 6-phosphogluconolactonase gene DOID:630 genetic disease ISO RGD:1315936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780989 HIGD1C HIG1 hypoxia inducible domain family member 1C gene DOID:630 genetic disease ISO RGD:1602019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11780994 DOK1 docking protein 1 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1319871 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11780994 DOK1 docking protein 1 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1319872 D RGD:9068941 20220519 RGD PMID:20139980|REF_RGD_ID:152177521 11780994 DOK1 docking protein 1 gene DOID:543 dystonia ISO RGD:1319871 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11780994 DOK1 docking protein 1 gene DOID:630 genetic disease ISO RGD:1319871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11780994 DOK1 docking protein 1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1319871 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11780994 DOK1 docking protein 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1319871 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21856257 11780994 DOK1 docking protein 1 gene DOID:9004584 Myopia 28 ISO RGD:1319871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopia 28, autosomal recessive PMID:26957899|PMID:28492532 11780994 DOK1 docking protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1319871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20139980 11781010 KLHL8 kelch like family member 8 gene DOID:630 genetic disease ISO RGD:1312275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11781010 KLHL8 kelch like family member 8 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1312275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 11781040 HS3ST3B1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1316454 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:12207933|PMID:1303230|PMID:1677316|PMID:1822787|PMID:20493460|PMID:20739940|PMID:22190321|PMID:28492532 11781040 HS3ST3B1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 gene DOID:0060041 autism spectrum disorder ISO RGD:1316454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:23044707|PMID:25741868|PMID:27569545 11781040 HS3ST3B1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 gene DOID:0110148 Charcot-Marie-Tooth disease type 1A ISO RGD:1316454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA PMID:25741868 11781040 HS3ST3B1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 gene DOID:12849 autistic disorder ISO RGD:1316454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11781040 HS3ST3B1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 gene DOID:289 endometriosis ISO RGD:1316454 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11781040 HS3ST3B1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 gene DOID:5419 schizophrenia ISO RGD:1316454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11781040 HS3ST3B1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 gene DOID:630 genetic disease ISO RGD:1316454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11781046 RAC3 Rac family small GTPase 3 gene DOID:1059 intellectual disability ISO RGD:1344542 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30293988 11781046 RAC3 Rac family small GTPase 3 gene DOID:630 genetic disease ISO RGD:1344542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11781046 RAC3 Rac family small GTPase 3 gene DOID:9002267 Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies ISO RGD:1344542 D RGD:7240710 20191016 OMIM 11781046 RAC3 Rac family small GTPase 3 gene DOID:9002267 Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies ISO RGD:1344542 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies PMID:25741868|PMID:29276006|PMID:30293988|PMID:35851598 11781046 RAC3 Rac family small GTPase 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1344542 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:35331739 11781059 NPY2R neuropeptide Y receptor Y2 gene DOID:0050830 peripheral artery disease ISO RGD:1348310 D RGD:9068941 20200609 RGD PMID:21468772|REF_RGD_ID:10448273 11781059 NPY2R neuropeptide Y receptor Y2 gene DOID:0060001 withdrawal disorder ISO RGD:1348310 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18828811 11781059 NPY2R neuropeptide Y receptor Y2 gene DOID:11981 morbid obesity ISO RGD:1348310 D RGD:9068941 20200609 RGD DNA:SNP:CDS:NCBI refSNP IDs=rs1047214, rs2880415 coding for silent Ile variants; Pima Indians, males only PMID:15855352|REF_RGD_ID:1642381 11781059 NPY2R neuropeptide Y receptor Y2 gene DOID:12858 Huntington's disease onset ISO RGD:1348310 D RGD:9068941 20200609 RGD DNA:SNP: :rs2234759 (human) PMID:24121255|REF_RGD_ID:10431606 11781059 NPY2R neuropeptide Y receptor Y2 gene DOID:1574 alcohol use disorder ISO RGD:1348310 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18828811 11781059 NPY2R neuropeptide Y receptor Y2 gene DOID:1596 depressive disorder treatment ISO RGD:620475 D RGD:9068941 20200609 RGD PMID:21803058|REF_RGD_ID:10448284 11781059 NPY2R neuropeptide Y receptor Y2 gene DOID:1825 childhood absence epilepsy treatment ISO RGD:620475 D RGD:9068941 20200609 RGD PMID:17331209|REF_RGD_ID:10448963 11781059 NPY2R neuropeptide Y receptor Y2 gene DOID:1826 epilepsy ISO RGD:1348310 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8868293 11781059 NPY2R neuropeptide Y receptor Y2 gene DOID:1936 atherosclerosis ISO RGD:1551786 D RGD:9068941 20200609 RGD PMID:21468772|REF_RGD_ID:10448273 11781059 NPY2R neuropeptide Y receptor Y2 gene DOID:3328 temporal lobe epilepsy ISO RGD:1348310 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15716408 11781059 NPY2R neuropeptide Y receptor Y2 gene DOID:3328 temporal lobe epilepsy ISO RGD:1348310 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:15337376|REF_RGD_ID:1642609 11781059 NPY2R neuropeptide Y receptor Y2 gene DOID:630 genetic disease ISO RGD:1348310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11781059 NPY2R neuropeptide Y receptor Y2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1348310 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18828811 11781059 NPY2R neuropeptide Y receptor Y2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620475 D RGD:9068941 20200609 RGD PMID:18201831|REF_RGD_ID:10448967 11781059 NPY2R neuropeptide Y receptor Y2 gene DOID:9970 obesity ISO RGD:1348310 D RGD:9068941 20200609 RGD DNA:SNP:promoter:−4448C>A, NCBI refSNP ID=rs12649641; Danish white subjects PMID:17019604|REF_RGD_ID:1642379 11781059 NPY2R neuropeptide Y receptor Y2 gene DOID:9970 obesity ISO RGD:620475 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus PMID:17447163|REF_RGD_ID:10448938 11781073 ANGEL1 angel homolog 1 gene DOID:1059 intellectual disability ISO RGD:1314740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11781073 ANGEL1 angel homolog 1 gene DOID:630 genetic disease ISO RGD:1314740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11781100 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:0050572 cone-rod dystrophy ISO RGD:1352344 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:19592100|PMID:23805033|PMID:24033266|PMID:25741868|PMID:25770143|PMID:28041643|PMID:28492532|PMID:28795510|PMID:30718709|PMID:32860008|PMID:33546218 11781100 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:0050817 Stargardt disease ISO RGD:1352344 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: STGD PMID:15161866|PMID:15223812|PMID:15657609|PMID:15712225|PMID:16379026|PMID:22975760|PMID:22995991|PMID:23776498|PMID:24504161|PMID:25205868|PMID:25474149|PMID:25616768|PMID:25741868|PMID:26106334|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:32869108 11781100 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:0110008 achromatopsia 3 ISO RGD:1352344 D RGD:7240710 20180130 OMIM 11781100 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:0110008 achromatopsia 3 ISO RGD:1352344 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Achromatopsia 3 | ClinVar Annotator: match by term: Total colorblindness with myopia PMID:10888875|PMID:10958649|PMID:12187429|PMID:12357335|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15223812|PMID:15459792|PMID:15657609|PMID:15712225|PMID:1572225|PMID:16199547|PMID:16319819|PMID:16379026|PMID:17265047|PMID:17576681|PMID:17652762|PMID:19592100|PMID:20079539|PMID:20574029|PMID:22264887|PMID:22975760|PMID:22995991|PMID:23776498|PMID:23805033|PMID:24033266|PMID:24148654|PMID:24504161|PMID:25205868|PMID:25474149|PMID:25525159|PMID:25558076|PMID:25558176|PMID:25616768|PMID:25741868|PMID:25770143|PMID:26106334|PMID:26992781|PMID:27479814|PMID:27874104|PMID:28005958|PMID:28041643|PMID:28224992|PMID:28341476|PMID:28418496|PMID:28492532|PMID:28795510|PMID:29053603|PMID:29186038|PMID:29769798|PMID:30337596|PMID:30418171|PMID:30718709|PMID:32860008|PMID:32869108|PMID:33546218|PMID:9536098 11781100 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1352344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10888875|PMID:10958649|PMID:11124331|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25741868|PMID:25770143|PMID:26106334|PMID:28005958|PMID:28041643|PMID:28166811|PMID:28224992|PMID:28492532|PMID:28795510|PMID:30718709|PMID:32860008|PMID:33546218 11781100 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1352344 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25741868|PMID:25770143|PMID:26106334|PMID:28005958|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28795510|PMID:30718709|PMID:32860008|PMID:33546218 11781100 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1352344 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:19592100|PMID:20301591|PMID:21270786|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25741868|PMID:25770143|PMID:25974703|PMID:26106334|PMID:28005958|PMID:28041643|PMID:28224992|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:30718709|PMID:32860008|PMID:32869108|PMID:33546218 11781100 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1352344 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:19592100|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25741868|PMID:25770143|PMID:26106334|PMID:28005958|PMID:28041643|PMID:28224992|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:30718709|PMID:32860008|PMID:32869108|PMID:33546218 11781100 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:1242 globe disease ISO RGD:1352344 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Globe disease PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:19592100|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25741868|PMID:25770143|PMID:28041643|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:30718709|PMID:32860008|PMID:32869108|PMID:33546218 11781100 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:13399 color blindness ISO RGD:1352344 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30418171 11781100 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:13399 color blindness susceptibility ISO RGD:1352344 D RGD:9068941 20200609 RGD DNA:mutations PMID:10958649|REF_RGD_ID:1600870 11781100 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:13911 achromatopsia ISO RGD:1352344 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:10888875|PMID:10958649|PMID:12187429|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15459792|PMID:15657609|PMID:15712225|PMID:1572225|PMID:16199547|PMID:16319819|PMID:16379026|PMID:17265047|PMID:17576681|PMID:17652762|PMID:19592100|PMID:20079539|PMID:22264887|PMID:22975760|PMID:22995991|PMID:23776498|PMID:23805033|PMID:24033266|PMID:24148654|PMID:24504161|PMID:25205868|PMID:25326637|PMID:25474149|PMID:25525159|PMID:25558176|PMID:25616768|PMID:25741868|PMID:25770143|PMID:26106334|PMID:26992781|PMID:27479814|PMID:27874104|PMID:28005958|PMID:28041643|PMID:28224992|PMID:28418496|PMID:28492532|PMID:28795510|PMID:29186038|PMID:29769798|PMID:30418171|PMID:30718709|PMID:31456290|PMID:32860008|PMID:32869108|PMID:33546218|PMID:9536098 11781100 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:14791 Leber congenital amaurosis ISO RGD:1352344 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15459792|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:17576681|PMID:17652762|PMID:19592100|PMID:20079539|PMID:20574029|PMID:23805033|PMID:24033266|PMID:25558176|PMID:25741868|PMID:25770143|PMID:28041643|PMID:28492532|PMID:28795510|PMID:29769798|PMID:30718709|PMID:32860008|PMID:33546218|PMID:9536098 11781100 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:4448 macular degeneration ISO RGD:1352344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:17576681|PMID:28041643|PMID:28492532|PMID:28795510|PMID:9536098 11781100 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:630 genetic disease ISO RGD:1352344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15657609|PMID:25741868|PMID:26106334|PMID:28492532 11781100 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:8501 fundus dystrophy ISO RGD:1352344 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15459792|PMID:15657609|PMID:15712225|PMID:16199547|PMID:16319819|PMID:16379026|PMID:17265047|PMID:17576681|PMID:17652762|PMID:19592100|PMID:20079539|PMID:20574029|PMID:23805033|PMID:24033266|PMID:24148654|PMID:25205868|PMID:25525159|PMID:25558176|PMID:25741868|PMID:25770143|PMID:27479814|PMID:27874104|PMID:28041643|PMID:28492532|PMID:28795510|PMID:29186038|PMID:29769798|PMID:30718709|PMID:32860008|PMID:33546218|PMID:9536098 11781100 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:9003656 Achromatopsia 1 ISO RGD:1352344 D RGD:9068941 20200609 RGD DNA:deletion: :c.1148delC (human) PMID:17265047|REF_RGD_ID:9068446 11781100 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:9003656 Achromatopsia 1 ISO RGD:1557161 D RGD:9068941 20200609 RGD PMID:21576125|REF_RGD_ID:9068450 11781100 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:9003656 Achromatopsia 1 treatment ISO RGD:1352344 D RGD:9068941 20200609 RGD PMID:21576125|REF_RGD_ID:9068450 11781100 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1352344 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1 PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15223812|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:19592100|PMID:22975760|PMID:22995991|PMID:23776498|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25205868|PMID:25474149|PMID:25616768|PMID:25741868|PMID:25770143|PMID:26106334|PMID:28041643|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:30718709|PMID:32860008|PMID:32869108|PMID:33546218 11781100 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:9008296 Eye Abnormalities ISO RGD:1352344 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:19592100|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25741868|PMID:25770143|PMID:28041643|PMID:28418496|PMID:28492532|PMID:28795510|PMID:29053603|PMID:30418171|PMID:30718709|PMID:32860008|PMID:32869108|PMID:33546218 11781100 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:9650 pathologic nystagmus ISO RGD:1352344 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:10888875|PMID:10958649|PMID:15657609|PMID:15712225|PMID:17652762|PMID:20079539|PMID:25558176|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28795510|PMID:29769798 11781128 NDNF neuron derived neurotrophic factor gene DOID:289 endometriosis ISO RGD:1606239 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11781128 NDNF neuron derived neurotrophic factor gene DOID:630 genetic disease ISO RGD:1606239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11781128 NDNF neuron derived neurotrophic factor gene DOID:9001845 Hypogonadotropic Hypogonadism 25 with Anosmia ISO RGD:1606239 D RGD:7240710 20200408 OMIM 11781128 NDNF neuron derived neurotrophic factor gene DOID:9001845 Hypogonadotropic Hypogonadism 25 with Anosmia ISO RGD:1606239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 25 with anosmia PMID:25741868|PMID:31883645 11781128 NDNF neuron derived neurotrophic factor gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1606239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 11781128 NDNF neuron derived neurotrophic factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11781145 FAM216B family with sequence similarity 216 member B gene DOID:630 genetic disease ISO RGD:1605573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11781146 CD151 CD151 molecule (Raph blood group) gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11781146 CD151 CD151 molecule (Raph blood group) gene DOID:0080773 delta beta-thalassemia ISO RGD:733300 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11781146 CD151 CD151 molecule (Raph blood group) gene DOID:0111969 immunodeficiency 39 ISO RGD:733300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11781146 CD151 CD151 molecule (Raph blood group) gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11781146 CD151 CD151 molecule (Raph blood group) gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:733300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11781146 CD151 CD151 molecule (Raph blood group) gene DOID:630 genetic disease ISO RGD:733300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11781146 CD151 CD151 molecule (Raph blood group) gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:733300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11781146 CD151 CD151 molecule (Raph blood group) gene DOID:9004850 Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness ISO RGD:733300 D RGD:7240710 20180130 OMIM 11781146 CD151 CD151 molecule (Raph blood group) gene DOID:9004850 Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness ISO RGD:733300 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 7, WITH NEPHROPATHY AND DEAFNESS | ClinVar Annotator: match by term: Nephropathy with pretibial epidermolysis bullosa and deafness PMID:15265795|PMID:25741868|PMID:25741871|PMID:28492532 11781159 MAB21L3 mab-21 like 3 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1602303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 11781159 MAB21L3 mab-21 like 3 gene DOID:630 genetic disease ISO RGD:1602303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11781175 NOXA1 NADPH oxidase activator 1 gene DOID:0050777 Joubert syndrome ISO RGD:1315446 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11781175 NOXA1 NADPH oxidase activator 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1315446 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 11781175 NOXA1 NADPH oxidase activator 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1315446 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 11781175 NOXA1 NADPH oxidase activator 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1315446 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11781175 NOXA1 NADPH oxidase activator 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1315446 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11781175 NOXA1 NADPH oxidase activator 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1315446 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11781175 NOXA1 NADPH oxidase activator 1 gene DOID:1826 epilepsy ISO RGD:1315446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11781175 NOXA1 NADPH oxidase activator 1 gene DOID:630 genetic disease ISO RGD:1315446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11781175 NOXA1 NADPH oxidase activator 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1315446 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11781213 GPX1 glutathione peroxidase 1 gene DOID:0050083 Keshan disease ISO RGD:737005 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.P198L (human) PMID:21055077|REF_RGD_ID:11352821 11781213 GPX1 glutathione peroxidase 1 gene DOID:0050866 oral squamous cell carcinoma exacerbates ISO RGD:737005 D RGD:9068941 20220623 RGD protein:increased expression:oral cavity (human) PMID:28653098|REF_RGD_ID:152995473 11781213 GPX1 glutathione peroxidase 1 gene DOID:0060060 non-Hodgkin lymphoma treatment ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:25016003|REF_RGD_ID:11352765 11781213 GPX1 glutathione peroxidase 1 gene DOID:0060852 Pierson syndrome ISO RGD:737005 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 11781213 GPX1 glutathione peroxidase 1 gene DOID:0070004 myeloid neoplasm ISO RGD:737005 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.P198L (human) PMID:27077777|REF_RGD_ID:11352761 11781213 GPX1 glutathione peroxidase 1 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:10681 D RGD:9068941 20200609 RGD PMID:24597775|REF_RGD_ID:11352823 11781213 GPX1 glutathione peroxidase 1 gene DOID:0080600 COVID-19 ISO RGD:737005 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11781213 GPX1 glutathione peroxidase 1 gene DOID:10534 stomach cancer exacerbates ISO RGD:737005 D RGD:9068941 20220428 RGD protein:decreased expression:stomach (human) PMID:22843889|REF_RGD_ID:151665483 11781213 GPX1 glutathione peroxidase 1 gene DOID:10534 stomach cancer susceptibility ISO RGD:737005 D RGD:9068941 20220623 RGD DNA:missense mutation, haplotype:CDS:p.P198L (human) PMID:19035188|REF_RGD_ID:152995456 11781213 GPX1 glutathione peroxidase 1 gene DOID:10763 hypertension ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21593737 11781213 GPX1 glutathione peroxidase 1 gene DOID:10763 hypertension ISO RGD:737005 D RGD:9068941 20200609 RGD protein,mRNA:decreased_expression:mononuclear_cells:after treatment, activity increased but mRNA expression decreased further PMID:17198913|REF_RGD_ID:1600704 11781213 GPX1 glutathione peroxidase 1 gene DOID:10763 hypertension treatment ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:21210316|PMID:23752977|REF_RGD_ID:11352825|REF_RGD_ID:11353777 11781213 GPX1 glutathione peroxidase 1 gene DOID:10923 sickle cell anemia ISO RGD:10681 D RGD:9068941 20200609 RGD protein:decreased expression:penis PMID:22620981|REF_RGD_ID:11352757 11781213 GPX1 glutathione peroxidase 1 gene DOID:10923 sickle cell anemia ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:20846340|REF_RGD_ID:11352775 11781213 GPX1 glutathione peroxidase 1 gene DOID:10923 sickle cell anemia treatment ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:19951064|REF_RGD_ID:11352756 11781213 GPX1 glutathione peroxidase 1 gene DOID:1099 alpha thalassemia ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:24577940|REF_RGD_ID:11352811 11781213 GPX1 glutathione peroxidase 1 gene DOID:11054 urinary bladder cancer ISO RGD:737005 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:15247771|PMID:35764155 11781213 GPX1 glutathione peroxidase 1 gene DOID:11476 osteoporosis ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 11781213 GPX1 glutathione peroxidase 1 gene DOID:11713 diabetic angiopathy ISO RGD:737005 D RGD:9068941 20200609 RGD cardiovascular complications in type 2 diabetics; protein:reduced_activity:blood PMID:16338763|REF_RGD_ID:1600708 11781213 GPX1 glutathione peroxidase 1 gene DOID:11714 gestational diabetes ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:22342560|REF_RGD_ID:11353780 11781213 GPX1 glutathione peroxidase 1 gene DOID:11758 iron deficiency anemia ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:7861256|REF_RGD_ID:11352760 11781213 GPX1 glutathione peroxidase 1 gene DOID:11758 iron deficiency anemia treatment ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic PMID:24691014|REF_RGD_ID:11352819 11781213 GPX1 glutathione peroxidase 1 gene DOID:1240 leukemia ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:17205986|REF_RGD_ID:11352809 11781213 GPX1 glutathione peroxidase 1 gene DOID:12849 autistic disorder ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19195803 11781213 GPX1 glutathione peroxidase 1 gene DOID:12858 Huntington's disease ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:18588971|REF_RGD_ID:13432193 11781213 GPX1 glutathione peroxidase 1 gene DOID:1287 cardiovascular system disease ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14573732 11781213 GPX1 glutathione peroxidase 1 gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P198L (human) PMID:15331559|REF_RGD_ID:2306612 11781213 GPX1 glutathione peroxidase 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18940188 11781213 GPX1 glutathione peroxidase 1 gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:737005 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.P198L (human) PMID:18940188|REF_RGD_ID:2306616 11781213 GPX1 glutathione peroxidase 1 gene DOID:13001 carotid stenosis ISO RGD:10681 D RGD:9068941 20200609 RGD PMID:23426106|REF_RGD_ID:11352755 11781213 GPX1 glutathione peroxidase 1 gene DOID:1324 lung cancer ISO RGD:737005 D RGD:9068941 20220428 RGD DNA:missense mutation:CDS:p.P198L (human) PMID:16615267|REF_RGD_ID:152023634 11781213 GPX1 glutathione peroxidase 1 gene DOID:1324 lung cancer exacerbates ISO RGD:737005 D RGD:9068941 20220623 RGD DNA:mutations:multiple (human) PMID:32850411|REF_RGD_ID:152995450 11781213 GPX1 glutathione peroxidase 1 gene DOID:1324 lung cancer susceptibility ISO RGD:737005 D RGD:9068941 20220630 RGD DNA:missense mutation:CDS: (rs1050450) (human) PMID:23516596|REF_RGD_ID:152998903 11781213 GPX1 glutathione peroxidase 1 gene DOID:1324 lung cancer susceptibility ISO RGD:737005 D RGD:9068941 20220630 RGD DNA:missense mutation:CDS:p.P198L (human) PMID:11103801|PMID:15192016|REF_RGD_ID:152995449|REF_RGD_ID:152995506 11781213 GPX1 glutathione peroxidase 1 gene DOID:14330 Parkinson's disease ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15824117 11781213 GPX1 glutathione peroxidase 1 gene DOID:1459 hypothyroidism treatment ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:22733496|REF_RGD_ID:7257534 11781213 GPX1 glutathione peroxidase 1 gene DOID:1596 depressive disorder ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:23707456|REF_RGD_ID:11352766 11781213 GPX1 glutathione peroxidase 1 gene DOID:1612 breast cancer susceptibility ISO RGD:737005 D RGD:9068941 20220623 RGD DNA:repeat:CDS: (human) PMID:14744747|REF_RGD_ID:152995457 11781213 GPX1 glutathione peroxidase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15557674 11781213 GPX1 glutathione peroxidase 1 gene DOID:182 calcinosis susceptibility ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P197L (human) PMID:17825092|REF_RGD_ID:2306608 11781213 GPX1 glutathione peroxidase 1 gene DOID:1826 epilepsy ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19499324 11781213 GPX1 glutathione peroxidase 1 gene DOID:2018 hyperinsulinism ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15184668|PMID:18560803 11781213 GPX1 glutathione peroxidase 1 gene DOID:219 colon cancer ISO RGD:737005 D RGD:9068941 20220630 RGD mRNA, protein:increased expression:colon (human) PMID:21868509|REF_RGD_ID:152995496 11781213 GPX1 glutathione peroxidase 1 gene DOID:219 colon cancer treatment ISO RGD:10681 D RGD:9068941 20220624 RGD associated with Inflammation PMID:28045589|REF_RGD_ID:152995480 11781213 GPX1 glutathione peroxidase 1 gene DOID:2316 brain ischemia ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12531513 11781213 GPX1 glutathione peroxidase 1 gene DOID:2349 arteriosclerosis ISO RGD:10681 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17420349|REF_RGD_ID:2306610 11781213 GPX1 glutathione peroxidase 1 gene DOID:2355 anemia ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:8939405|REF_RGD_ID:11352778 11781213 GPX1 glutathione peroxidase 1 gene DOID:2355 anemia treatment ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:21422078|REF_RGD_ID:11352776 11781213 GPX1 glutathione peroxidase 1 gene DOID:2527 nephrosis ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:22046528|REF_RGD_ID:7240570 11781213 GPX1 glutathione peroxidase 1 gene DOID:2596 larynx cancer susceptibility ISO RGD:737005 D RGD:9068941 20220630 RGD DNA:missense mutation:CDS: (rs1050450) (human) PMID:23516596|REF_RGD_ID:152998903 11781213 GPX1 glutathione peroxidase 1 gene DOID:2671 transitional cell carcinoma ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15247771 11781213 GPX1 glutathione peroxidase 1 gene DOID:2738 pseudoxanthoma elasticum onset ISO RGD:737005 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:c.593C>T (rs1050450) PMID:17693525|REF_RGD_ID:8547520 11781213 GPX1 glutathione peroxidase 1 gene DOID:285 hairy cell leukemia ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:8843970|REF_RGD_ID:11353776 11781213 GPX1 glutathione peroxidase 1 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:737005 D RGD:9068941 20220623 RGD DNA:missense mutation:CDS:p.P198L (rs1050450) (human) PMID:27188866|REF_RGD_ID:152995455 11781213 GPX1 glutathione peroxidase 1 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:737005 D RGD:9068941 20220623 RGD protein:increased expression:larynx (human) PMID:28641905|REF_RGD_ID:152995454 11781213 GPX1 glutathione peroxidase 1 gene DOID:2876 laryngeal squamous cell carcinoma no_association ISO RGD:737005 D RGD:9068941 20220630 RGD DNA:missense mutation:CDS:p.P198L (human) PMID:24074040|REF_RGD_ID:152995493 11781213 GPX1 glutathione peroxidase 1 gene DOID:3393 coronary artery disease ISO RGD:737005 D RGD:9068941 20200609 RGD DNA:repeat:exon PMID:12655278|REF_RGD_ID:1600677 11781213 GPX1 glutathione peroxidase 1 gene DOID:3393 coronary artery disease ISO RGD:737005 D RGD:9068941 20200609 RGD cardiovascular complications in type 2 diabetics; protein:reduced_activity:blood PMID:16338763|REF_RGD_ID:1600708 11781213 GPX1 glutathione peroxidase 1 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:737005 D RGD:9068941 20220623 RGD protein:decreased expression:mucosa of stomach (human) PMID:24228025|REF_RGD_ID:152995446 11781213 GPX1 glutathione peroxidase 1 gene DOID:3717 gastric adenocarcinoma susceptibility ISO RGD:737005 D RGD:9068941 20220630 RGD mRNA:decreased expression:stomach, erythrocyte, lymphocyte (human) PMID:27957666|REF_RGD_ID:152998894 11781213 GPX1 glutathione peroxidase 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:737005 D RGD:9068941 20220630 RGD DNA:missense mutation:CDS:p.P200L (rs1050450) (human) PMID:18298806|REF_RGD_ID:152995507 11781213 GPX1 glutathione peroxidase 1 gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:737005 D RGD:9068941 20220624 RGD DNA:missense mutation:CDS:p.P198L (rs1050450) (human) PMID:16797832|REF_RGD_ID:152995481 11781213 GPX1 glutathione peroxidase 1 gene DOID:3908 lung non-small cell carcinoma onset ISO RGD:737005 D RGD:9068941 20220630 RGD mRNA:increased expression:leukocyte (human) PMID:33474835|REF_RGD_ID:152998904 11781213 GPX1 glutathione peroxidase 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:737005 D RGD:9068941 20220630 RGD DNA:SNP: (human) PMID:19347979|REF_RGD_ID:152998881 11781213 GPX1 glutathione peroxidase 1 gene DOID:4195 hyperglycemia ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15184668 11781213 GPX1 glutathione peroxidase 1 gene DOID:4195 hyperglycemia treatment ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:19819955|REF_RGD_ID:11353779 11781213 GPX1 glutathione peroxidase 1 gene DOID:5517 stomach carcinoma exacerbates ISO RGD:737005 D RGD:9068941 20220428 RGD protein:decreased expression:stomach (human) PMID:8001233|REF_RGD_ID:152023661 11781213 GPX1 glutathione peroxidase 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:14573732|REF_RGD_ID:1600662 11781213 GPX1 glutathione peroxidase 1 gene DOID:630 genetic disease ISO RGD:737005 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11781213 GPX1 glutathione peroxidase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:730872 D RGD:9068941 20220415 RGD associated with alcoholic liver cirrhosis;DNA:missense mutation:CDS:p.P198L (human) PMID:16510607|REF_RGD_ID:151708729 11781213 GPX1 glutathione peroxidase 1 gene DOID:684 hepatocellular carcinoma no_association ISO RGD:737005 D RGD:9068941 20220701 RGD DNA:missense mutation:CDS:p.P198L (human) PMID:25894370|REF_RGD_ID:152998906 11781213 GPX1 glutathione peroxidase 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:737005 D RGD:9068941 20220415 RGD associated with hepatitis C;DNA:missense mutation:CDS:p.P198L (rs1050450) (human) PMID:26990426|REF_RGD_ID:11533013 11781213 GPX1 glutathione peroxidase 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732740 D RGD:9068941 20220624 RGD PMID:19929244|REF_RGD_ID:152995483 11781213 GPX1 glutathione peroxidase 1 gene DOID:784 chronic kidney disease treatment ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:15954914|REF_RGD_ID:11352759 11781213 GPX1 glutathione peroxidase 1 gene DOID:7998 hyperthyroidism ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:19914224|REF_RGD_ID:9068475 11781213 GPX1 glutathione peroxidase 1 gene DOID:7998 hyperthyroidism ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19914224 11781213 GPX1 glutathione peroxidase 1 gene DOID:83 cataract ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:23194826|REF_RGD_ID:11353787 11781213 GPX1 glutathione peroxidase 1 gene DOID:8552 chronic myeloid leukemia no_association ISO RGD:737005 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.P198L (human) PMID:25436036|REF_RGD_ID:11352762 11781213 GPX1 glutathione peroxidase 1 gene DOID:8577 ulcerative colitis ISO RGD:737005 D RGD:9068941 20200609 RGD protein:decreased expression:erythrocyte PMID:20186929|REF_RGD_ID:11352754 11781213 GPX1 glutathione peroxidase 1 gene DOID:8725 vascular dementia treatment ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:24968700|REF_RGD_ID:11352822 11781213 GPX1 glutathione peroxidase 1 gene DOID:8778 Crohn's disease ISO RGD:737005 D RGD:9068941 20200609 RGD protein:decreased expression:erythrocyte PMID:20186929|REF_RGD_ID:11352754 11781213 GPX1 glutathione peroxidase 1 gene DOID:8923 skin melanoma ISO RGD:737005 D RGD:9068941 20220428 RGD mRNA:increased expression:skin of body (human) PMID:29535818|REF_RGD_ID:152023655 11781213 GPX1 glutathione peroxidase 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:737005 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 11781213 GPX1 glutathione peroxidase 1 gene DOID:9000582 Reticulocytosis ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:6320862|REF_RGD_ID:11353799 11781213 GPX1 glutathione peroxidase 1 gene DOID:9000998 Brain Injuries ISO RGD:2729 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus, neuron PMID:15791111|REF_RGD_ID:2306624 11781213 GPX1 glutathione peroxidase 1 gene DOID:9001109 Anorexia treatment ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Uremia PMID:12005352|REF_RGD_ID:11352773 11781213 GPX1 glutathione peroxidase 1 gene DOID:9001191 Cadmium Poisoning treatment ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:24954678|REF_RGD_ID:11352769 11781213 GPX1 glutathione peroxidase 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:737005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11781213 GPX1 glutathione peroxidase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:10681 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus PMID:17609286|REF_RGD_ID:2306609 11781213 GPX1 glutathione peroxidase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1 PMID:16249459|REF_RGD_ID:11068479 11781213 GPX1 glutathione peroxidase 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16844917|REF_RGD_ID:2306611 11781213 GPX1 glutathione peroxidase 1 gene DOID:9003298 Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to ISO RGD:737005 D RGD:7240710 20180130 OMIM 11781213 GPX1 glutathione peroxidase 1 gene DOID:9003298 Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to ISO RGD:737005 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glutathione peroxidase deficiency PMID:10220143|PMID:25741868 11781213 GPX1 glutathione peroxidase 1 gene DOID:9003603 Hemolysis ISO RGD:737005 D RGD:9068941 20200609 RGD following reinfusion of stored blood PMID:5766310|REF_RGD_ID:1600671 11781213 GPX1 glutathione peroxidase 1 gene DOID:9003709 Mercury Poisoning ISO RGD:10681 D RGD:9068941 20200609 RGD PMID:18758054|REF_RGD_ID:7240571 11781213 GPX1 glutathione peroxidase 1 gene DOID:9003871 Venous Thrombosis ISO RGD:10681 D RGD:9068941 20200609 RGD PMID:23426106|REF_RGD_ID:11352755 11781213 GPX1 glutathione peroxidase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23743330 11781213 GPX1 glutathione peroxidase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11103801 11781213 GPX1 glutathione peroxidase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:18387670|REF_RGD_ID:2306607 11781213 GPX1 glutathione peroxidase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2729 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus PMID:15039483|REF_RGD_ID:2306161 11781213 GPX1 glutathione peroxidase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2729 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:19229592|REF_RGD_ID:2306606 11781213 GPX1 glutathione peroxidase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 11781213 GPX1 glutathione peroxidase 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:25744399|REF_RGD_ID:11353782 11781213 GPX1 glutathione peroxidase 1 gene DOID:9005725 Iron Overload ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Beta-Thalassemia PMID:16317757|REF_RGD_ID:11352779 11781213 GPX1 glutathione peroxidase 1 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15557674 11781213 GPX1 glutathione peroxidase 1 gene DOID:9006553 Hyperthermia ISO RGD:737005 D RGD:9068941 20211015 CTD CTD Direct Evidence: therapeutic PMID:34082047 11781213 GPX1 glutathione peroxidase 1 gene DOID:9007188 Liver Neoplasms treatment ISO RGD:10681 D RGD:9068941 20220623 RGD PMID:26147624|REF_RGD_ID:152995453 11781213 GPX1 glutathione peroxidase 1 gene DOID:9008510 Chronic Hepatitis ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 11781213 GPX1 glutathione peroxidase 1 gene DOID:9008691 Liver Injury treatment ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:23750655|REF_RGD_ID:11353785 11781213 GPX1 glutathione peroxidase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12810669 11781213 GPX1 glutathione peroxidase 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:737005 D RGD:9068941 20200609 RGD DNA:SNP: :c.599C>T (rs1050450) (human) PMID:26950655|REF_RGD_ID:11061784 11781213 GPX1 glutathione peroxidase 1 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:737005 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.P198L (human) PMID:26823947|REF_RGD_ID:11061561 11781213 GPX1 glutathione peroxidase 1 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:22930375|REF_RGD_ID:11352817 11781213 GPX1 glutathione peroxidase 1 gene DOID:9256 colorectal cancer ISO RGD:737005 D RGD:9068941 20220428 RGD mRNA:decreased expression:colorectum (human) PMID:25550558|REF_RGD_ID:152023662 11781213 GPX1 glutathione peroxidase 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:737005 D RGD:9068941 20220428 RGD DNA:missense mutation:CDS:p.P198L (human) PMID:19428376|REF_RGD_ID:152023636 11781213 GPX1 glutathione peroxidase 1 gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:737005 D RGD:9068941 20220623 RGD DNA:missense mutation:CDS:p.P198L (human) PMID:33616746|REF_RGD_ID:152995452 11781213 GPX1 glutathione peroxidase 1 gene DOID:9268 glycine encephalopathy ISO RGD:737005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:28492532 11781213 GPX1 glutathione peroxidase 1 gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:24563435|REF_RGD_ID:11035307 11781213 GPX1 glutathione peroxidase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366|PMID:23795780 11781213 GPX1 glutathione peroxidase 1 gene DOID:9452 fatty liver disease ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10860543 11781213 GPX1 glutathione peroxidase 1 gene DOID:9538 multiple myeloma ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:8599825|REF_RGD_ID:11352777 11781213 GPX1 glutathione peroxidase 1 gene DOID:9669 senile cataract ISO RGD:10681 D RGD:9068941 20200609 RGD PMID:16129095|REF_RGD_ID:10003112 11781213 GPX1 glutathione peroxidase 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:24698347|REF_RGD_ID:11352812 11781213 GPX1 glutathione peroxidase 1 gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:17317918|REF_RGD_ID:11352774 11781213 GPX1 glutathione peroxidase 1 gene DOID:9970 obesity ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15184668 11781219 SUGP2 SURP and G-patch domain containing 2 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1314432 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 11781219 SUGP2 SURP and G-patch domain containing 2 gene DOID:630 genetic disease ISO RGD:1314432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11781219 SUGP2 SURP and G-patch domain containing 2 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1314432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11781290 ERVW-1 endogenous retrovirus group W member 1, envelope gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11781297 HID1 HID1 domain containing gene DOID:630 genetic disease ISO RGD:1322878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28600779 11781297 HID1 HID1 domain containing gene DOID:9002700 Developmental and Epileptic Encephalopathy 105 ISO RGD:1322878 D RGD:7240710 20220810 OMIM 11781297 HID1 HID1 domain containing gene DOID:9002700 Developmental and Epileptic Encephalopathy 105 ISO RGD:1322878 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 105 with hypopituitarism PMID:28600779|PMID:33999436 11781322 SUOX sulfite oxidase gene DOID:0060041 autism spectrum disorder ISO RGD:733312 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11781322 SUOX sulfite oxidase gene DOID:0111270 isolated sulfite oxidase deficiency ISO RGD:733312 D RGD:7240710 20180130 OMIM 11781322 SUOX sulfite oxidase gene DOID:0111270 isolated sulfite oxidase deficiency ISO RGD:733312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sulfite oxidase deficiency | ClinVar Annotator: match by term: Sulfocysteinuria PMID:10519592|PMID:12001203|PMID:12112661|PMID:1212661|PMID:12368985|PMID:15952210|PMID:16140720|PMID:17576681|PMID:17940249|PMID:19339519|PMID:19793632|PMID:22865819|PMID:23994568|PMID:24756183|PMID:24938149|PMID:25741868|PMID:25758000|PMID:28492532|PMID:28629418|PMID:28725568|PMID:28933809|PMID:28980090|PMID:29590070|PMID:31127934|PMID:31870341|PMID:33098801|PMID:34025712|PMID:34420858|PMID:35679912|PMID:9050047|PMID:9428520|PMID:9536098|PMID:9600976 11781322 SUOX sulfite oxidase gene DOID:0111888 Diamond-Blackfan anemia 10 ISO RGD:733312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 PMID:20116044|PMID:22045982|PMID:22689679|PMID:23718193|PMID:28492532 11781322 SUOX sulfite oxidase gene DOID:630 genetic disease ISO RGD:733312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12001203|PMID:12112661|PMID:12368985|PMID:19339519|PMID:23994568|PMID:25741868|PMID:28492532|PMID:28725568|PMID:29590070|PMID:31870341|PMID:34025712|PMID:34420858|PMID:35679912|PMID:9428520|PMID:9600976 11781322 SUOX sulfite oxidase gene DOID:655 inherited metabolic disorder susceptibility ISO RGD:733312 D RGD:9068941 20200609 RGD DNA:mutations PMID:12112661|REF_RGD_ID:1600121 11781322 SUOX sulfite oxidase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11781322 SUOX sulfite oxidase gene DOID:9452 fatty liver disease ISO RGD:619994 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:15144217|REF_RGD_ID:1600114 11781341 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1348846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:16199547|PMID:20220177|PMID:27068304|PMID:28492532 11781341 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1348846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:14574644|PMID:16199547|PMID:16326826|PMID:16806930|PMID:16924012|PMID:17470135|PMID:17576681|PMID:18414213|PMID:18511281|PMID:18787844|PMID:18846676|PMID:19086034|PMID:19272779|PMID:19744956|PMID:19763152|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20301641|PMID:20307669|PMID:20826437|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22406018|PMID:22462672|PMID:22950825|PMID:22978647|PMID:23281072|PMID:23466821|PMID:23553667|PMID:23806086|PMID:24033266|PMID:24088041|PMID:25025039|PMID:25188385|PMID:25326637|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26752306|PMID:26794302|PMID:26872463|PMID:27025386|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:28902413|PMID:29184351|PMID:29321516|PMID:29336362|PMID:3000192|PMID:30001926|PMID:30373780|PMID:30653784|PMID:31211173|PMID:31227790|PMID:31346473|PMID:31372974|PMID:31393079|PMID:31634715|PMID:31673878|PMID:31692161|PMID:31827005|PMID:32376792|PMID:33643188|PMID:9536098 11781341 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:1348846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant intermediate Charcot-Marie-Tooth disease 11781341 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0060249 scoliosis ISO RGD:1348846 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:20220177|PMID:20301641|PMID:21291453|PMID:22950825|PMID:23806086|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26794302|PMID:28492532 11781341 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11781341 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1348846 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Guérin-Stern syndrome PMID:20220177|PMID:20301641|PMID:21291453|PMID:22950825|PMID:23806086|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26794302|PMID:28492532 11781341 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0110152 Charcot-Marie-Tooth disease type 1B ISO RGD:1348846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1B PMID:25741868|PMID:28492532 11781341 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0110183 Charcot-Marie-Tooth disease type 4C ISO RGD:1348846 D RGD:7240710 20180130 OMIM 11781341 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0110183 Charcot-Marie-Tooth disease type 4C ISO RGD:1348846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4C | ClinVar Annotator: match by term: CMT 4C | ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4C PMID:14574644|PMID:16199547|PMID:16326826|PMID:16806930|PMID:16924012|PMID:17470135|PMID:17576681|PMID:18414213|PMID:18511281|PMID:19086034|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20301641|PMID:20826437|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22462672|PMID:22950825|PMID:22978647|PMID:23281072|PMID:23466821|PMID:23553667|PMID:23806086|PMID:24033266|PMID:24088041|PMID:25025039|PMID:25188385|PMID:25326637|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26752306|PMID:26794302|PMID:26872463|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:29184351|PMID:29321516|PMID:30001926|PMID:30653784|PMID:31346473|PMID:31634715|PMID:31673878|PMID:32376792|PMID:9536098 11781341 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:1348846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:28492532 11781341 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1348846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:14574644|PMID:16326826|PMID:16806930|PMID:16924012|PMID:17470135|PMID:17576681|PMID:18414213|PMID:18511281|PMID:18846676|PMID:19086034|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20826437|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22462672|PMID:22950825|PMID:22978647|PMID:23466821|PMID:23553667|PMID:23806086|PMID:24033266|PMID:25025039|PMID:25188385|PMID:25231362|PMID:25326637|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26752306|PMID:26794302|PMID:26872463|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:29184351|PMID:29321516|PMID:29336362|PMID:30001926|PMID:30653784|PMID:31211173|PMID:31346473|PMID:31634715|PMID:31673878|PMID:32376792|PMID:33643188|PMID:9536098 11781341 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1348846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:14574644|PMID:16326826|PMID:16806930|PMID:16924012|PMID:17470135|PMID:17576681|PMID:18414213|PMID:18511281|PMID:18787844|PMID:18846676|PMID:19086034|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20301641|PMID:20826437|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22462672|PMID:22950825|PMID:22978647|PMID:23466821|PMID:23553667|PMID:23806086|PMID:24033266|PMID:25025039|PMID:25188385|PMID:25231362|PMID:25326637|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26752306|PMID:26794302|PMID:26872463|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:29184351|PMID:29321516|PMID:29336362|PMID:3000192|PMID:30001926|PMID:30653784|PMID:31211173|PMID:31346473|PMID:31372974|PMID:31634715|PMID:31673878|PMID:32376792|PMID:33643188|PMID:9536098 11781341 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:12377 spinal muscular atrophy ISO RGD:1348846 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:16199547|PMID:20220177|PMID:25614874|PMID:27068304|PMID:28492532|PMID:31827005 11781341 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:2477 motor peripheral neuropathy ISO RGD:1348846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:25741868|PMID:28492532 11781341 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:3070 high grade glioma ISO RGD:1348846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11781341 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:5419 schizophrenia ISO RGD:1348846 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11781341 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:571 median neuropathy ISO RGD:1348846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mononeuropathy of the Median Nerve PMID:25741868|PMID:26467025|PMID:28492532 11781341 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:574 peripheral nervous system disease ISO RGD:1348846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:22462672|PMID:23466821|PMID:25429913|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30001926 11781341 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:630 genetic disease ISO RGD:1348846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14574644|PMID:16199547|PMID:16806930|PMID:16924012|PMID:18414213|PMID:18511281|PMID:18787844|PMID:18846676|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20301641|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22462672|PMID:22950825|PMID:23466821|PMID:23806086|PMID:25025039|PMID:25188385|PMID:25326637|PMID:25429913|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26794302|PMID:26872463|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:29336362|PMID:3000192|PMID:30001926|PMID:30653784|PMID:31211173|PMID:31346473|PMID:31372974|PMID:31827005|PMID:32376792|PMID:33643188 11781341 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:870 neuropathy ISO RGD:1348846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:22462672|PMID:23466821|PMID:25429913|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30001926 11781341 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11781341 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:9005946 Mononeuropathy of the Median Nerve, Mild ISO RGD:1348846 D RGD:7240710 20180130 OMIM 11781341 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:9005946 Mononeuropathy of the Median Nerve, Mild ISO RGD:1348846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARPAL TUNNEL SYNDROME, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Mononeuropathy of the median nerve, mild PMID:14574644|PMID:16806930|PMID:16924012|PMID:18414213|PMID:18511281|PMID:19086034|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20301641|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22462672|PMID:22950825|PMID:23466821|PMID:23806086|PMID:25025039|PMID:25188385|PMID:25326637|PMID:25429913|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26794302|PMID:26872463|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:30001926|PMID:30653784|PMID:31346473|PMID:32376792 11781341 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11781341 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:9008305 Talipes Cavus ISO RGD:1348846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pes cavus PMID:25741868|PMID:26392352|PMID:26467025|PMID:26872463|PMID:28492532 11781379 FAM117A family with sequence similarity 117 member A gene DOID:630 genetic disease ISO RGD:1604587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11781391 AGO3 argonaute RISC catalytic component 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11781391 AGO3 argonaute RISC catalytic component 3 gene DOID:630 genetic disease ISO RGD:1319350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0050469 Costello syndrome ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Costello syndrome PMID:28492532 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0050700 cardiomyopathy ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:24728327|PMID:25741868|PMID:26260725|PMID:26530882|PMID:26580448|PMID:26848617|PMID:28492532 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:735645 D RGD:9068941 20200609 RGD PMID:24500602|REF_RGD_ID:11567230 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0050894 ameloblastoma ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24859340 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant lymphoma, non-Hodgkin | ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:12068308|PMID:12460918|PMID:12460919|PMID:12960123|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15035987|PMID:17603483|PMID:18186519|PMID:18794803|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19537845|PMID:20350999|PMID:20619739|PMID:21129611|PMID:21483012|PMID:22310681|PMID:22649091|PMID:22773810|PMID:23352452|PMID:23833300|PMID:24033266|PMID:24303953|PMID:24446311|PMID:24920063|PMID:25157968|PMID:26619011|PMID:27236105|PMID:27276561|PMID:28492532|PMID:29595366 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome PMID:12068308|PMID:12198537|PMID:12438234|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12692057|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14678966|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16372351|PMID:16439621|PMID:16474404|PMID:16523510|PMID:16772349|PMID:16804887|PMID:16825433|PMID:17366577|PMID:17374713|PMID:17483702|PMID:17488796|PMID:17496923|PMID:17551924|PMID:17603483|PMID:17703371|PMID:17704260|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18060073|PMID:18186519|PMID:18398503|PMID:18413255|PMID:18451217|PMID:18456719|PMID:18470943|PMID:18794803|PMID:18854871|PMID:18953432|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19404918|PMID:19416762|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19735675|PMID:19953625|PMID:20008640|PMID:20141835|PMID:20186801|PMID:20301365|PMID:20301557|PMID:20350999|PMID:20395089|PMID:20413299|PMID:20523244|PMID:20619739|PMID:20630094|PMID:20735442|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21063443|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21204800|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21871821|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22190897|PMID:22281684|PMID:22301711|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22876591|PMID:22892241|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23093928|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23312806|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23564332|PMID:23614898|PMID:23680146|PMID:23685455|PMID:23715574|PMID:23756559|PMID:23763990|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23875798|PMID:23907581|PMID:23918947|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24037001|PMID:24088041|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24283439|PMID:24303953|PMID:24388723|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24458522|PMID:24508103|PMID:24512911|PMID:24524299|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24719372|PMID:24775816|PMID:24800029|PMID:24803665|PMID:24918823|PMID:24920063|PMID:2500657|PMID:25024077|PMID:25035421|PMID:25037139|PMID:25079330|PMID:25155755|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25348715|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25533962|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26242988|PMID:26472072|PMID:26582644|PMID:26619011|PMID:26633545|PMID:26678033|PMID:26732095|PMID:26795593|PMID:27146152|PMID:27236105|PMID:27276561|PMID:27322245|PMID:27404270|PMID:27478040|PMID:27480103|PMID:27521173|PMID:28404629|PMID:28492532|PMID:28512244|PMID:28524057|PMID:28650561|PMID:28687512|PMID:28854169|PMID:28891408|PMID:28911804|PMID:28947956|PMID:29084544|PMID:29493581|PMID:29533785|PMID:29752777|PMID:29907801|PMID:29925953|PMID:30094826|PMID:30290804|PMID:30581057|PMID:30820351|PMID:30986545|PMID:31263281|PMID:31277584|PMID:31474318|PMID:31560489|PMID:31779674|PMID:31785789|PMID:31891627|PMID:32005694|PMID:32810930|PMID:32978145|PMID:33040082|PMID:33128510|PMID:33522658|PMID:33683002|PMID:34476331|PMID:4386970|PMID:5771505|PMID:8042262 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0060578 Noonan syndrome 1 ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:11313766|PMID:12068308|PMID:12460918|PMID:12460919|PMID:12960123|PMID:15035987|PMID:16007634|PMID:16439621|PMID:16474404|PMID:16804887|PMID:17366577|PMID:17437909|PMID:17551924|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18854871|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19416762|PMID:20186801|PMID:20224900|PMID:20395089|PMID:20523244|PMID:21063443|PMID:21204800|PMID:21483012|PMID:21784453|PMID:21871821|PMID:22190897|PMID:22301711|PMID:22495831|PMID:22649091|PMID:22698809|PMID:22798288|PMID:22805292|PMID:22892241|PMID:22907230|PMID:23093928|PMID:23312806|PMID:23564332|PMID:23644139|PMID:23715574|PMID:23756559|PMID:23833300|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24524299|PMID:24719372|PMID:24775816|PMID:24803665|PMID:2500657|PMID:25035421|PMID:25157968|PMID:25741868|PMID:25754625|PMID:26242988|PMID:26361991|PMID:26472072|PMID:26633545|PMID:27146152|PMID:27322245|PMID:27329734|PMID:27478040|PMID:28404629|PMID:28492532|PMID:2851224|PMID:28512244|PMID:28687512|PMID:28911804|PMID:29522538|PMID:30290804|PMID:30414707|PMID:30581057|PMID:30986545|PMID:31560489|PMID:32978145|PMID:33040082|PMID:33522658|PMID:34573299 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0060585 Noonan syndrome 7 ISO RGD:735645 D RGD:7240710 20180130 OMIM 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0060585 Noonan syndrome 7 ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Noonan syndrome 7 PMID:11313766|PMID:12068308|PMID:12460918|PMID:12460919|PMID:12810628|PMID:12960123|PMID:14749708|PMID:15035987|PMID:15578519|PMID:16007634|PMID:16439621|PMID:16474404|PMID:16619251|PMID:17344846|PMID:17366577|PMID:17437909|PMID:17551924|PMID:17603483|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18186519|PMID:18413255|PMID:18456719|PMID:18470943|PMID:18794803|PMID:18854871|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19416762|PMID:19537845|PMID:20186801|PMID:20224900|PMID:20301557|PMID:20350999|PMID:20395089|PMID:21062266|PMID:21129611|PMID:21204800|PMID:21483012|PMID:21784453|PMID:21871821|PMID:22190897|PMID:22301711|PMID:22310681|PMID:22495831|PMID:22649091|PMID:22698809|PMID:22798288|PMID:22805292|PMID:22892241|PMID:22907230|PMID:23093928|PMID:23273605|PMID:23312806|PMID:23564332|PMID:23644139|PMID:23715574|PMID:23756559|PMID:23833300|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24451042|PMID:24524299|PMID:24719372|PMID:24728327|PMID:24775816|PMID:24803665|PMID:24920063|PMID:2500657|PMID:25035421|PMID:25157968|PMID:25463315|PMID:25533962|PMID:25741868|PMID:25754625|PMID:26242988|PMID:26260725|PMID:26361991|PMID:26472072|PMID:26530882|PMID:26580448|PMID:26619011|PMID:26633545|PMID:26848617|PMID:27146152|PMID:27322245|PMID:27329734|PMID:27478040|PMID:28404629|PMID:28492532|PMID:2851224|PMID:28512244|PMID:28650561|PMID:28687512|PMID:28783719|PMID:29522538|PMID:29540830|PMID:29907801|PMID:30290804|PMID:30414707|PMID:30581057|PMID:30986545|PMID:31336229|PMID:31560489|PMID:32978145|PMID:33040082|PMID:33522658|PMID:34573299 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0080550 Noonan syndrome with multiple lentigines 3 ISO RGD:735645 D RGD:7240710 20180130 OMIM 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0080550 Noonan syndrome with multiple lentigines 3 ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 3 PMID:12068308|PMID:12810628|PMID:12960123|PMID:14749708|PMID:15578519|PMID:16439621|PMID:16474404|PMID:16619251|PMID:17344846|PMID:17366577|PMID:17551924|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18470943|PMID:18854871|PMID:19206169|PMID:19376813|PMID:19416762|PMID:20301557|PMID:20395089|PMID:21784453|PMID:21871821|PMID:22190897|PMID:22301711|PMID:22495831|PMID:23312806|PMID:23564332|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24524299|PMID:24719372|PMID:24728327|PMID:24775816|PMID:24920063|PMID:2500657|PMID:25035421|PMID:25741868|PMID:26242988|PMID:26260725|PMID:26472072|PMID:26530882|PMID:26580448|PMID:26633545|PMID:26848617|PMID:27146152|PMID:27322245|PMID:27478040|PMID:28404629|PMID:28492532|PMID:28687512|PMID:30290804|PMID:30581057|PMID:30986545|PMID:31560489 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0080690 RASopathy ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:11313766|PMID:12068308|PMID:12198537|PMID:12414817|PMID:12438234|PMID:12460918|PMID:12460919|PMID:12692057|PMID:12960123|PMID:14612909|PMID:14678966|PMID:14679157|PMID:14688025|PMID:14749708|PMID:15035987|PMID:15578519|PMID:16007634|PMID:16199547|PMID:16372351|PMID:16439621|PMID:16474404|PMID:16611712|PMID:16619251|PMID:16804887|PMID:16825433|PMID:17088437|PMID:17314276|PMID:17344846|PMID:17366577|PMID:17437909|PMID:17483702|PMID:17496923|PMID:17551924|PMID:17555829|PMID:17576681|PMID:17603482|PMID:17603483|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18060073|PMID:18186519|PMID:18413255|PMID:18451217|PMID:18456719|PMID:18470943|PMID:18794803|PMID:18854871|PMID:18953432|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19416762|PMID:19537845|PMID:19593635|PMID:19735675|PMID:19953625|PMID:20141835|PMID:20186801|PMID:20224900|PMID:20301365|PMID:20301557|PMID:20350999|PMID:20395089|PMID:20523244|PMID:20619739|PMID:20735442|PMID:20818844|PMID:20859831|PMID:2102266|PMID:21062266|PMID:21063443|PMID:21129611|PMID:21135229|PMID:21204800|PMID:21483012|PMID:21639808|PMID:21784453|PMID:21871821|PMID:22048237|PMID:22190897|PMID:22301711|PMID:22310681|PMID:22356324|PMID:22495831|PMID:22538770|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22675565|PMID:22698809|PMID:22735384|PMID:22798288|PMID:22805292|PMID:22876591|PMID:22892241|PMID:22907230|PMID:22972589|PMID:23020132|PMID:23093928|PMID:23273605|PMID:23312806|PMID:23321623|PMID:23352452|PMID:23564332|PMID:23644139|PMID:23680146|PMID:23715574|PMID:23756559|PMID:23763990|PMID:23833300|PMID:23875798|PMID:23907581|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24037001|PMID:24066114|PMID:24088041|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24458522|PMID:24524299|PMID:24719372|PMID:24728327|PMID:24775816|PMID:24803665|PMID:24918823|PMID:24920063|PMID:2500657|PMID:25035421|PMID:25155755|PMID:25157968|PMID:25180280|PMID:25337068|PMID:25348715|PMID:25463315|PMID:25533962|PMID:25741868|PMID:25754625|PMID:26242988|PMID:26260725|PMID:26361991|PMID:26472072|PMID:26530882|PMID:26580448|PMID:26582644|PMID:26619011|PMID:26633545|PMID:26732095|PMID:26795593|PMID:26848617|PMID:27146152|PMID:27276561|PMID:27322245|PMID:27329734|PMID:27391121|PMID:27478040|PMID:27521173|PMID:27799065|PMID:28027327|PMID:28404629|PMID:28492532|PMID:2851224|PMID:28512244|PMID:28524057|PMID:28650561|PMID:28687512|PMID:28783719|PMID:28832562|PMID:28911804|PMID:28947956|PMID:29084544|PMID:29493581|PMID:29522538|PMID:29533785|PMID:29540830|PMID:29595366|PMID:29752777|PMID:29907801|PMID:29945942|PMID:30094826|PMID:30181556|PMID:30290804|PMID:30414707|PMID:30581057|PMID:30732632|PMID:30820351|PMID:30986545|PMID:31015455|PMID:31158244|PMID:31263281|PMID:31336229|PMID:31475041|PMID:31560489|PMID:31785789|PMID:32005694|PMID:3265306|PMID:32810930|PMID:32978145|PMID:33040082|PMID:33128510|PMID:33522658|PMID:33683002|PMID:34573299|PMID:8042262|PMID:9536098 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:735645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:24033266|PMID:24446311|PMID:25157968|PMID:26619011 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:25741868 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0111460 cardiofaciocutaneous syndrome 1 ISO RGD:735645 D RGD:7240710 20191106 OMIM 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0111460 cardiofaciocutaneous syndrome 1 ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 PMID:11313766|PMID:12068308|PMID:15035987|PMID:16007634|PMID:16372351|PMID:16439621|PMID:16474404|PMID:16523510|PMID:16804887|PMID:16825433|PMID:17314276|PMID:17366577|PMID:17437909|PMID:17483702|PMID:17496923|PMID:17551924|PMID:17555829|PMID:17603482|PMID:17603483|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18186519|PMID:18413255|PMID:18451217|PMID:18456719|PMID:18470943|PMID:18794803|PMID:18854871|PMID:18953432|PMID:19206169|PMID:19376813|PMID:19416762|PMID:19537845|PMID:19593635|PMID:20186801|PMID:20224900|PMID:20301365|PMID:20301557|PMID:20350999|PMID:20395089|PMID:20523244|PMID:20859831|PMID:2102266|PMID:21063443|PMID:21129611|PMID:21784453|PMID:21871821|PMID:22190897|PMID:22301711|PMID:22310681|PMID:22495831|PMID:22538770|PMID:22698809|PMID:22876591|PMID:22907230|PMID:23093928|PMID:23273605|PMID:23312806|PMID:23564332|PMID:23644139|PMID:23680146|PMID:23875798|PMID:23907581|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24037001|PMID:24088041|PMID:24283439|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24524299|PMID:24719372|PMID:24728327|PMID:24775816|PMID:24800029|PMID:24803665|PMID:24920063|PMID:2500657|PMID:25035421|PMID:25155755|PMID:25157968|PMID:25337068|PMID:25463315|PMID:25533962|PMID:25741868|PMID:25754625|PMID:26242988|PMID:26361991|PMID:26472072|PMID:26582644|PMID:26619011|PMID:26633545|PMID:26732095|PMID:27146152|PMID:27276561|PMID:27322245|PMID:27329734|PMID:27391121|PMID:27478040|PMID:28404629|PMID:28492532|PMID:2851224|PMID:28512244|PMID:28524057|PMID:28650561|PMID:28687512|PMID:28783719|PMID:28911804|PMID:28947956|PMID:29084544|PMID:29522538|PMID:29533785|PMID:29540830|PMID:29907801|PMID:30094826|PMID:30290804|PMID:30414707|PMID:30581057|PMID:30732632|PMID:30986545|PMID:31263281|PMID:31474318|PMID:31560489|PMID:3265306|PMID:33040082|PMID:33683002|PMID:34113008|PMID:4386970|PMID:5771505 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:1040 chronic lymphocytic leukemia ISO RGD:735645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:12068308|PMID:12198537|PMID:12960123|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15035987|PMID:16187918|PMID:17096326|PMID:17119447|PMID:17311103|PMID:18368129|PMID:18794803|PMID:19206169|PMID:19383316|PMID:19537845|PMID:19913317|PMID:20350999|PMID:20619739|PMID:21129611|PMID:21639808|PMID:22048237|PMID:22310681|PMID:22495831|PMID:22663011|PMID:22972589|PMID:23352452|PMID:24033266|PMID:24451042|PMID:25157968|PMID:26619011|PMID:28492532|PMID:28832562|PMID:29595366 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:1059 intellectual disability ISO RGD:735645 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:1089 tethered spinal cord syndrome ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Occult spinal dysraphism sequence PMID:16372351|PMID:16523510|PMID:16804887|PMID:16825433|PMID:17551924|PMID:18039235|PMID:18413255|PMID:19206169|PMID:23875798|PMID:24033266|PMID:24283439|PMID:25741868|PMID:31474318|PMID:4386970|PMID:5771505 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:11294 arteriovenous malformation ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arteriovenous malformation PMID:17366577|PMID:25741868|PMID:26795593 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:16439621|PMID:16474404|PMID:18039235|PMID:18413255|PMID:18953432|PMID:19206169|PMID:22495831|PMID:24446311|PMID:24920063|PMID:25157968|PMID:25348715|PMID:25741868|PMID:26732095|PMID:27276561|PMID:28492532|PMID:28524057|PMID:28947956|PMID:31475041 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:12716 newborn respiratory distress syndrome ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal respiratory distress PMID:16439621|PMID:16474404|PMID:17366577|PMID:17483702|PMID:17704260|PMID:18413255|PMID:19206169|PMID:20186801|PMID:24033266|PMID:25463315|PMID:25741868|PMID:28492532 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:1324 lung cancer ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic PMID:16439621|PMID:16474404|PMID:17366577|PMID:17551924|PMID:17703371|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18854871|PMID:19206169|PMID:19376813|PMID:20395089|PMID:21784453|PMID:21871821|PMID:22301711|PMID:22495831|PMID:23312806|PMID:23564332|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24524299|PMID:24719372|PMID:24775816|PMID:2500657|PMID:25035421|PMID:25741868|PMID:26242988|PMID:26472072|PMID:26633545|PMID:27146152|PMID:27322245|PMID:27478040|PMID:28404629|PMID:28492532|PMID:28687512|PMID:30986545 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines PMID:17704260|PMID:18042262|PMID:19206169|PMID:19416762|PMID:20301557|PMID:22190897|PMID:23763990|PMID:23950000|PMID:24033266|PMID:25741868|PMID:28404629|PMID:28492532|PMID:30820351 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:14566 disease of cellular proliferation ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12692057|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16772349|PMID:17314276|PMID:17374713|PMID:17488796|PMID:17704260|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18060073|PMID:18186519|PMID:18398503|PMID:18413255|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19593635|PMID:20008640|PMID:20130576|PMID:20186801|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:2102266|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21204800|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22538770|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22892241|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23093928|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23680146|PMID:23685455|PMID:23715574|PMID:23756559|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23907581|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24458522|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24926260|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25155755|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29084544|PMID:29493581|PMID:29752777|PMID:29925953|PMID:30732632|PMID:31277584|PMID:31779674|PMID:31891627|PMID:32810930|PMID:32978145|PMID:33522658|PMID:34476331|PMID:8042262 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:1475 lymphangioma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphangioma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:1520 colon carcinoma ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12692057|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17704260|PMID:17785355|PMID:18039235|PMID:18060073|PMID:18398503|PMID:18413255|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19376813|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23680146|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25155755|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:1520 colon carcinoma treatment ISO RGD:735645 D RGD:9068941 20200609 RGD PMID:22319199|REF_RGD_ID:11567267 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:162 cancer ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cancer PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:1657 ventricular septal defect ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:16439621|PMID:16474404|PMID:17366577|PMID:17483702|PMID:17704260|PMID:18413255|PMID:19206169|PMID:20186801|PMID:24033266|PMID:25463315|PMID:25741868|PMID:28492532 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:169 neuroendocrine tumor ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17341847 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:1793 pancreatic cancer ISO RGD:735645 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:22871572|REF_RGD_ID:13461863 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:1793 pancreatic cancer ISO RGD:735646 D RGD:9068941 20200609 RGD PMID:22628411|REF_RGD_ID:13462040 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:1793 pancreatic cancer disease_progression ISO RGD:735646 D RGD:9068941 20200609 RGD PMID:18490924|REF_RGD_ID:13451537 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:1909 melanoma ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:12068308|PMID:12198537|PMID:12438234|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14678966|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15016963|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15753399|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17366577|PMID:17374713|PMID:17488796|PMID:17551924|PMID:17603483|PMID:17703371|PMID:17704260|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18060073|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18456719|PMID:18794803|PMID:18854871|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19735675|PMID:19913317|PMID:20008640|PMID:20130576|PMID:20141835|PMID:20186801|PMID:20301365|PMID:20350999|PMID:20395089|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20735442|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21204800|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21750866|PMID:21784453|PMID:21871821|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22301711|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22892241|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23093928|PMID:23248257|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23312806|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23564332|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23756559|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23907581|PMID:23918947|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24458522|PMID:24508103|PMID:24512911|PMID:24524299|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24710085|PMID:24717435|PMID:24719372|PMID:24775816|PMID:24918823|PMID:24920063|PMID:24926260|PMID:2493360|PMID:2500657|PMID:25024077|PMID:25035421|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25348715|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26242988|PMID:26472072|PMID:26582644|PMID:26619011|PMID:26633545|PMID:26678033|PMID:27146152|PMID:27236105|PMID:27276561|PMID:27322245|PMID:27404270|PMID:27478040|PMID:27480103|PMID:28404629|PMID:28492532|PMID:28687512|PMID:2872605|PMID:28832562|PMID:28854169|PMID:28891408|PMID:29084544|PMID:29493581|PMID:29533785|PMID:29595366|PMID:29752777|PMID:29907801|PMID:29925953|PMID:30732632|PMID:30986545|PMID:31277584|PMID:31336229|PMID:31475041|PMID:31779674|PMID:31891627|PMID:32810930|PMID:32978145|PMID:33522658|PMID:33683002|PMID:34476331|PMID:8042262 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:1909 melanoma onset ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:25623140|REF_RGD_ID:11567259 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:1909 melanoma treatment ISO RGD:735645 D RGD:9068941 20200609 RGD PMID:22319199|REF_RGD_ID:11567267 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:2154 nephroblastoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wilms tumor 1 PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:2526 prostate adenocarcinoma ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate | ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:12068308|PMID:12198537|PMID:12460918|PMID:12460919|PMID:12960123|PMID:14612909|PMID:14679157|PMID:15035987|PMID:16187918|PMID:16439621|PMID:16474404|PMID:17603483|PMID:18042262|PMID:18186519|PMID:18794803|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19537845|PMID:20350999|PMID:21129611|PMID:21483012|PMID:21639808|PMID:21683865|PMID:21784453|PMID:21975775|PMID:22048237|PMID:22310681|PMID:22495831|PMID:22649091|PMID:22663011|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22972589|PMID:23273605|PMID:23715574|PMID:23833300|PMID:24033266|PMID:24303953|PMID:24446311|PMID:24451042|PMID:24920063|PMID:2493360|PMID:25157968|PMID:25463315|PMID:25741868|PMID:26619011|PMID:27236105|PMID:27276561|PMID:28492532|PMID:28832562|PMID:29907801 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:2571 Langerhans-cell histiocytosis ISO RGD:735646 D RGD:9068941 20220825 MouseDO OMIM:246400 | OMIM:604856 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:2661 myoepithelioma ISO RGD:735645 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor PMID:15016963|PMID:15753399|PMID:19404918|PMID:21750866|PMID:24033266|PMID:25157968 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:2671 transitional cell carcinoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:12068308|PMID:12460918|PMID:12460919|PMID:12960123|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15035987|PMID:16439621|PMID:16474404|PMID:16825433|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17603483|PMID:18039235|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18413255|PMID:18794803|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19537845|PMID:19913317|PMID:20350999|PMID:20619739|PMID:21129611|PMID:21483012|PMID:21784453|PMID:22180495|PMID:22310681|PMID:22649091|PMID:22773810|PMID:23273605|PMID:23352452|PMID:23833300|PMID:24033266|PMID:24303953|PMID:24446311|PMID:24920063|PMID:25157968|PMID:25463315|PMID:25741868|PMID:26619011|PMID:27236105|PMID:27276561|PMID:28492532|PMID:29595366|PMID:29907801 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:2679 dysembryoplastic neuroepithelial tumor ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.V600E(human) PMID:25346165|REF_RGD_ID:11567238 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:2785 Dandy-Walker syndrome ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker malformation PMID:16372351|PMID:16523510|PMID:16804887|PMID:16825433|PMID:17551924|PMID:18039235|PMID:18413255|PMID:19206169|PMID:23875798|PMID:24033266|PMID:24283439|PMID:25741868|PMID:31474318|PMID:4386970|PMID:5771505 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:2871 endometrial carcinoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:28492532 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3068 glioblastoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:16825433|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18039235|PMID:18398503|PMID:18413255|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19376813|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3069 malignant astrocytoma ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23817572 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3069 malignant astrocytoma ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:rearrangement: : PMID:19794125|REF_RGD_ID:11069832 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3069 malignant astrocytoma onset ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.V600E(human) PMID:25346165|REF_RGD_ID:11567238 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3070 high grade glioma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brainstem glioma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3121 gallbladder cancer ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gallbladder cancer 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3304 germinoma ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.V600E (human) PMID:19289622|REF_RGD_ID:2315865 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3490 Noonan syndrome ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:11313766|PMID:12068308|PMID:12198537|PMID:12460918|PMID:12460919|PMID:12692057|PMID:12960123|PMID:15035987|PMID:16007634|PMID:16439621|PMID:16474404|PMID:16825433|PMID:16953233|PMID:17366577|PMID:17437909|PMID:17551924|PMID:17603482|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18456719|PMID:18854871|PMID:18953432|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19416762|PMID:20224900|PMID:20395089|PMID:20523244|PMID:21483012|PMID:21784453|PMID:21871821|PMID:22190897|PMID:22301711|PMID:22495831|PMID:22649091|PMID:22698809|PMID:22798288|PMID:22805292|PMID:22892241|PMID:22907230|PMID:23026937|PMID:23093928|PMID:23312806|PMID:23564332|PMID:23644139|PMID:23680146|PMID:23715574|PMID:23833300|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24524299|PMID:24719372|PMID:24728327|PMID:24775816|PMID:24803665|PMID:24920063|PMID:25035421|PMID:25155755|PMID:25157968|PMID:25348715|PMID:25463315|PMID:25741868|PMID:25754625|PMID:26242988|PMID:26361991|PMID:26472072|PMID:26619011|PMID:26633545|PMID:26732095|PMID:27146152|PMID:27276561|PMID:27322245|PMID:27329734|PMID:28492532|PMID:28512244|PMID:28524057|PMID:28687512|PMID:28911804|PMID:28947956|PMID:29522538|PMID:30290804|PMID:30414707|PMID:30581057|PMID:30732632|PMID:30986545|PMID:31560489|PMID:3265306|PMID:33040082 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3490 Noonan syndrome ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome | ClinVar Annotator: match by term: Turner phenotype with normal karyotype PMID:11313766|PMID:12068308|PMID:12198537|PMID:12460918|PMID:12460919|PMID:12692057|PMID:12960123|PMID:15035987|PMID:16007634|PMID:16439621|PMID:16474404|PMID:16825433|PMID:16953233|PMID:17366577|PMID:17437909|PMID:17551924|PMID:17603482|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18456719|PMID:18854871|PMID:18953432|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19416762|PMID:19953625|PMID:20186801|PMID:20224900|PMID:20395089|PMID:20523244|PMID:20859831|PMID:21062266|PMID:21204800|PMID:21483012|PMID:21784453|PMID:21871821|PMID:22190897|PMID:22301711|PMID:22495831|PMID:22649091|PMID:22698809|PMID:22798288|PMID:22805292|PMID:22892241|PMID:22907230|PMID:23026937|PMID:23093928|PMID:23312806|PMID:23564332|PMID:23644139|PMID:23680146|PMID:23715574|PMID:23756559|PMID:23833300|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24524299|PMID:24719372|PMID:24728327|PMID:24775816|PMID:24803665|PMID:24920063|PMID:2500657|PMID:25035421|PMID:25155755|PMID:25157968|PMID:25337068|PMID:25348715|PMID:25463315|PMID:25741868|PMID:25754625|PMID:26242988|PMID:26361991|PMID:26472072|PMID:26619011|PMID:26633545|PMID:26732095|PMID:27146152|PMID:27276561|PMID:27322245|PMID:27329734|PMID:27478040|PMID:28404629|PMID:28492532|PMID:2851224|PMID:28512244|PMID:28524057|PMID:28687512|PMID:28783719|PMID:28911804|PMID:28947956|PMID:29522538|PMID:29540830|PMID:30290804|PMID:30414707|PMID:30581057|PMID:30732632|PMID:30986545|PMID:31560489|PMID:31785789|PMID:32005694|PMID:3265306|PMID:32978145|PMID:33040082|PMID:33128510|PMID:33522658 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:363 uterine cancer ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:12068308|PMID:12198537|PMID:12960123|PMID:14679157|PMID:15035987|PMID:16187918|PMID:19206169|PMID:21639808|PMID:22048237|PMID:22495831|PMID:22663011|PMID:22972589|PMID:24033266|PMID:24451042|PMID:25157968|PMID:26619011|PMID:28492532|PMID:28832562 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3717 gastric adenocarcinoma ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:12068308|PMID:12198537|PMID:12960123|PMID:14679157|PMID:15035987|PMID:16187918|PMID:19206169|PMID:21639808|PMID:22048237|PMID:22495831|PMID:22663011|PMID:22972589|PMID:24033266|PMID:24451042|PMID:25157968|PMID:26619011|PMID:28492532|PMID:28832562 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3840 craniopharyngioma ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413733 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3905 lung carcinoma ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18186519|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19404918|PMID:19416762|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20186801|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21204800|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22190897|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22892241|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23093928|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23756559|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29925953|PMID:30290804|PMID:30581057|PMID:31277584|PMID:31560489|PMID:31779674|PMID:31891627|PMID:32978145|PMID:33522658|PMID:34476331 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3907 lung squamous cell carcinoma ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:12068308|PMID:12460918|PMID:12460919|PMID:12960123|PMID:14612909|PMID:15035987|PMID:16439621|PMID:16474404|PMID:17603483|PMID:18042262|PMID:18186519|PMID:18413255|PMID:18794803|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19537845|PMID:20350999|PMID:21062266|PMID:21129611|PMID:21483012|PMID:21784453|PMID:22310681|PMID:22649091|PMID:22773810|PMID:23273605|PMID:23833300|PMID:24033266|PMID:24303953|PMID:24446311|PMID:24920063|PMID:25157968|PMID:25463315|PMID:25741868|PMID:26619011|PMID:27236105|PMID:27276561|PMID:28492532|PMID:29907801|PMID:31336229 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:735645 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Non-small cell lung cancer | ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14681681|PMID:14688025|PMID:15001635|PMID:15016963|PMID:15035987|PMID:15046639|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15753399|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17314276|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18039235|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19363522|PMID:19376813|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19593635|PMID:19794125|PMID:19913317|PMID:20008640|PMID:20186801|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:2102266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21190184|PMID:21204800|PMID:21343559|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21716161|PMID:21750866|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22535154|PMID:22536370|PMID:22538770|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22892241|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23093928|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23680146|PMID:23685455|PMID:23715574|PMID:23756559|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23907581|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24446311|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25155755|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:32978145|PMID:33522658|PMID:34476331 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3910 lung adenocarcinoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:16825433|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17603483|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22876591|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24446311|PMID:24451042|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24920063|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27236105|PMID:27276561|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28832562|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29907801|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3910 lung adenocarcinoma ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:16825433|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17603483|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24446311|PMID:24451042|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24920063|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27236105|PMID:27276561|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28832562|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29907801|PMID:29925953|PMID:31277584|PMID:31336229|PMID:31779674|PMID:31891627|PMID:34476331 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3948 adrenocortical carcinoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma PMID:12068308|PMID:14612909|PMID:14679157|PMID:14688025|PMID:17096326|PMID:17119447|PMID:17311103|PMID:18368129|PMID:18794803|PMID:19383316|PMID:19537845|PMID:19913317|PMID:20350999|PMID:20619739|PMID:21129611|PMID:22310681|PMID:23352452|PMID:24033266|PMID:25157968|PMID:26619011|PMID:28492532|PMID:29595366 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NONMEDULLARY THYROID CARCINOMA, PAPILLARY PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3969 thyroid gland papillary carcinoma onset ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.V600E(human) PMID:22702340|REF_RGD_ID:7241798 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:4465 papillary renal cell carcinoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19376813|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22876591|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24446311|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:4465 papillary renal cell carcinoma ISO RGD:735645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24446311|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:4852 pleomorphic xanthoastrocytoma onset ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.V600E(human) PMID:25346165|REF_RGD_ID:11567238 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:4928 intrahepatic cholangiocarcinoma severity ISO RGD:619908 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V600E (human) PMID:24139215|REF_RGD_ID:14398746 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:4928 intrahepatic cholangiocarcinoma severity ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V600E (human) PMID:24139215|REF_RGD_ID:14398746 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:4928 intrahepatic cholangiocarcinoma severity ISO RGD:735646 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V600E (human) PMID:24139215|REF_RGD_ID:14398746 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:4947 cholangiocarcinoma ISO RGD:619908 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V600E (human) PMID:12692057|REF_RGD_ID:11073239 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:4947 cholangiocarcinoma ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V600E (human) PMID:12692057|REF_RGD_ID:11073239 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:4947 cholangiocarcinoma ISO RGD:735646 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V600E (human) PMID:12692057|REF_RGD_ID:11073239 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:5078 ganglioglioma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood ganglioglioma PMID:19363522|PMID:19794125|PMID:21190184|PMID:21343559|PMID:21716161|PMID:22535154|PMID:24033266 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:5381 bile duct adenoma ISO RGD:619908 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V600E (human) PMID:25704541|REF_RGD_ID:11521169 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:5381 bile duct adenoma ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V600E (human) PMID:25704541|REF_RGD_ID:11521169 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:5381 bile duct adenoma ISO RGD:735646 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V600E (human) PMID:25704541|REF_RGD_ID:11521169 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29925953|PMID:31277584|PMID:31336229|PMID:31775759|PMID:31779674|PMID:31891627|PMID:34476331 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:5742 pancreatic acinar cell adenocarcinoma ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:missense mutation, gene fusions:multiple (human) PMID:25266736|REF_RGD_ID:13462041 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:735645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:24033266|PMID:24446311|PMID:25157968|PMID:26619011|PMID:28492532 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:630 genetic disease ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15035987|PMID:16372351|PMID:16439621|PMID:16474404|PMID:16523510|PMID:16804887|PMID:16825433|PMID:17366577|PMID:17551924|PMID:17555829|PMID:17603482|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18470943|PMID:18854871|PMID:18953432|PMID:19206169|PMID:19376813|PMID:20186801|PMID:20859831|PMID:21063443|PMID:21784453|PMID:22301711|PMID:22495831|PMID:22876591|PMID:23093928|PMID:23312806|PMID:23564332|PMID:23875798|PMID:23975261|PMID:24033266|PMID:24037001|PMID:24088041|PMID:24283439|PMID:24409384|PMID:24446311|PMID:24524299|PMID:24719372|PMID:24775816|PMID:24920063|PMID:2500657|PMID:25035421|PMID:25337068|PMID:25463315|PMID:25741868|PMID:26242988|PMID:26472072|PMID:26619011|PMID:26633545|PMID:26732095|PMID:26795593|PMID:27146152|PMID:27276561|PMID:27322245|PMID:27391121|PMID:27478040|PMID:28492532|PMID:28524057|PMID:28687512|PMID:28783719|PMID:28947956|PMID:29540830|PMID:30986545|PMID:31474318|PMID:3265306|PMID:34573299|PMID:4386970|PMID:5771505 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:6420 pulmonary valve stenosis ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:16439621|PMID:16474404|PMID:17366577|PMID:17483702|PMID:17704260|PMID:18413255|PMID:19206169|PMID:20186801|PMID:24033266|PMID:25463315|PMID:25741868|PMID:28492532 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:6536 plasma cell neoplasm ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17603483|PMID:17785355|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24446311|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24920063|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27236105|PMID:27276561|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29907801|PMID:29925953|PMID:31277584|PMID:31336229|PMID:31779674|PMID:31891627|PMID:34476331 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:684 hepatocellular carcinoma ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27222248 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:8541 Sezary's disease ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:8552 chronic myeloid leukemia ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia PMID:24033266|PMID:24446311|PMID:25157968|PMID:26619011 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:8923 skin melanoma ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17366577|PMID:17374713|PMID:17488796|PMID:17551924|PMID:17603483|PMID:17703371|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18456719|PMID:18794803|PMID:18854871|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20395089|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21871821|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22301711|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23312806|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23564332|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24508103|PMID:24512911|PMID:24524299|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24719372|PMID:24775816|PMID:24920063|PMID:2493360|PMID:2500657|PMID:25024077|PMID:25035421|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26242988|PMID:26472072|PMID:26619011|PMID:26633545|PMID:26678033|PMID:27146152|PMID:27236105|PMID:27276561|PMID:27322245|PMID:27404270|PMID:27478040|PMID:27480103|PMID:28404629|PMID:28492532|PMID:28687512|PMID:28832562|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29907801|PMID:29925953|PMID:30986545|PMID:31277584|PMID:31336229|PMID:31779674|PMID:31891627|PMID:34476331 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9000027 Microsatellite Instability ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9000081 Lymphatic Metastasis ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29426936 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9000625 Nonseminomatous Germ Cell Tumor ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Germ cell tumor, nonseminomatous PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9000881 Cutaneous Malignant Melanoma, Susceptibility To, 1 ISO RGD:735645 D RGD:7240710 20210303 OMIM 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9000881 Cutaneous Malignant Melanoma, Susceptibility To, 1 ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY PMID:16439621|PMID:16474404|PMID:17366577|PMID:17551924|PMID:17703371|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18854871|PMID:19206169|PMID:19376813|PMID:20395089|PMID:21784453|PMID:21871821|PMID:22301711|PMID:22495831|PMID:23312806|PMID:23564332|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24524299|PMID:24719372|PMID:24775816|PMID:2500657|PMID:25035421|PMID:25741868|PMID:26242988|PMID:26472072|PMID:26633545|PMID:27146152|PMID:27322245|PMID:27478040|PMID:28404629|PMID:28492532|PMID:28687512|PMID:30986545 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9000965 Neoplasm Metastasis onset ISO RGD:735645 D RGD:9068941 20200609 RGD associated with Melanoma; DNA:mutations: : PMID:25623140|REF_RGD_ID:11567259 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002170 Experimental Neoplasms ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:735645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:12068308|PMID:12198537|PMID:12692057|PMID:12960123|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15035987|PMID:16187918|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17704260|PMID:18039235|PMID:18060073|PMID:18368129|PMID:18413255|PMID:18794803|PMID:19206169|PMID:19376813|PMID:19383316|PMID:19537845|PMID:19913317|PMID:20350999|PMID:20619739|PMID:21062266|PMID:21129611|PMID:21639808|PMID:22048237|PMID:22310681|PMID:22495831|PMID:22663011|PMID:22972589|PMID:23352452|PMID:23680146|PMID:24033266|PMID:24451042|PMID:25155755|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:28832562|PMID:29595366 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002265 Kidney Neoplasms ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21813464 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25735316|PMID:29610475 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002762 Ovarian Neoplasms ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:14681681|PMID:15001635|PMID:15035987|PMID:15046639|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002883 Aortic Aneurysm, Giant Congenital ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, giant congenital PMID:16372351|PMID:16523510|PMID:16804887|PMID:16825433|PMID:17551924|PMID:18039235|PMID:18413255|PMID:19206169|PMID:23875798|PMID:24033266|PMID:24283439|PMID:25741868|PMID:31474318|PMID:4386970|PMID:5771505 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002928 Colonic Neoplasms ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colonic Neoplasms PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002969 Nevus ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.V600E(human) PMID:25490715|REF_RGD_ID:11567234 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002969 Nevus no_association ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:mutation: :T1796A(human) PMID:14984580|REF_RGD_ID:11567261 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9003507 Premature Birth ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature birth PMID:16439621|PMID:16474404|PMID:17366577|PMID:17483702|PMID:17704260|PMID:18413255|PMID:19206169|PMID:20186801|PMID:24033266|PMID:25463315|PMID:25741868|PMID:28492532 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9003571 Paraproteinemias ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17603483|PMID:17785355|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24446311|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24920063|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27236105|PMID:27276561|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29907801|PMID:29925953|PMID:31277584|PMID:31336229|PMID:31779674|PMID:31891627|PMID:34476331 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9003806 PHACE Association ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PHACES association PMID:16372351|PMID:16523510|PMID:16804887|PMID:16825433|PMID:17551924|PMID:18039235|PMID:18413255|PMID:19206169|PMID:23875798|PMID:24033266|PMID:24283439|PMID:25741868|PMID:31474318|PMID:4386970|PMID:5771505 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9004118 Experimental Melanoma ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29179997|PMID:29438700 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9004547 Thyroid Neoplasms ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:12068308|PMID:12198537|PMID:12960123|PMID:14679157|PMID:15035987|PMID:16187918|PMID:19206169|PMID:21639808|PMID:22048237|PMID:22495831|PMID:22663011|PMID:22972589|PMID:24033266|PMID:24451042|PMID:25157968|PMID:26619011|PMID:28492532|PMID:28832562 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9004547 Thyroid Neoplasms treatment ISO RGD:735645 D RGD:9068941 20200609 RGD PMID:21355020|REF_RGD_ID:11567260 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1 PMID:12068308|PMID:12460918|PMID:12460919|PMID:14679157|PMID:15035987|PMID:16439621|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18368129|PMID:18413255|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19913317|PMID:20186801|PMID:20301365|PMID:21483012|PMID:21871821|PMID:22495831|PMID:22649091|PMID:23093928|PMID:23833300|PMID:23907581|PMID:24033266|PMID:24918823|PMID:25157968|PMID:25463315|PMID:25741868|PMID:26582644|PMID:26619011|PMID:28492532|PMID:29084544|PMID:29533785|PMID:33683002 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9005172 Lung Neoplasms ISO RGD:735645 D RGD:7240710 20180130 OMIM 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9005446 Mandibular Neoplasms ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24859340 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 PMID:12068308|PMID:12198537|PMID:12960123|PMID:14679157|PMID:15035987|PMID:16187918|PMID:21639808|PMID:22048237|PMID:22663011|PMID:22972589|PMID:24033266|PMID:25157968|PMID:26619011 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis ISO RGD:619908 D RGD:9068941 20200609 RGD associated with skin melanoma;DNA:missense mutations:cds: PMID:28787433|REF_RGD_ID:14696791 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis ISO RGD:735645 D RGD:9068941 20200609 RGD associated with skin melanoma;DNA:missense mutations:cds: PMID:28787433|REF_RGD_ID:14696791 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis ISO RGD:735646 D RGD:9068941 20200609 RGD associated with skin melanoma;DNA:missense mutations:cds: PMID:28787433|REF_RGD_ID:14696791 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:619908 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:missense mutation:cds:p.V600E (human) PMID:23010994|REF_RGD_ID:15039394 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:619908 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:missense mutations:cds:pV599E,p.V600E (human) PMID:22331825|REF_RGD_ID:18337265 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:619908 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:mutation:cds: PMID:27737491|REF_RGD_ID:18337264 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:619908 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:mutations:multiple PMID:26775732|REF_RGD_ID:11554843 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:735645 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:missense mutation:cds:p.V600E (human) PMID:23010994|REF_RGD_ID:15039394 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:735645 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:missense mutations:cds:pV599E,p.V600E (human) PMID:22331825|REF_RGD_ID:18337265 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:735645 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:mutation:cds: PMID:27737491|REF_RGD_ID:18337264 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:735645 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:mutations:multiple PMID:26775732|REF_RGD_ID:11554843 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:735646 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:missense mutation:cds:p.V600E (human) PMID:23010994|REF_RGD_ID:15039394 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:735646 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:missense mutations:cds:pV599E,p.V600E (human) PMID:22331825|REF_RGD_ID:18337265 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:735646 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:mutation:cds: PMID:27737491|REF_RGD_ID:18337264 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:735646 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:mutations:multiple PMID:26775732|REF_RGD_ID:11554843 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9007188 Liver Neoplasms ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17514646 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9007502 Brain Neoplasms ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brain Neoplasms PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18368129|PMID:18398503|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9007702 Carcinogenesis ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24717435 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:735645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24446311|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9008086 Developmental Disabilities ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9008443 Colorectal Neoplasms ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:12068308|PMID:12198537|PMID:12438234|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14678966|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17603483|PMID:17785355|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19735675|PMID:19913317|PMID:20008640|PMID:20141835|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24446311|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24920063|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27236105|PMID:27276561|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29907801|PMID:29925953|PMID:31277584|PMID:31336229|PMID:31779674|PMID:31891627|PMID:34476331 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:735645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:12068308|PMID:15035987|PMID:17314276|PMID:18039235|PMID:18413255|PMID:19376813|PMID:19593635|PMID:2102266|PMID:22538770|PMID:23680146|PMID:23907581|PMID:24033266|PMID:25155755|PMID:25157968|PMID:25741868|PMID:28492532 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9256 colorectal cancer ISO RGD:735645 D RGD:7240710 20210303 OMIM 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9256 colorectal cancer ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9256 colorectal cancer ISO RGD:735645 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18039235|PMID:18398503|PMID:18413255|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20395089|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21871821|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27478040|PMID:27480103|PMID:28404629|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9256 colorectal cancer ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:17366577|PMID:17374713|PMID:17488796|PMID:17551924|PMID:17703371|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18398503|PMID:18413255|PMID:18456719|PMID:18854871|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20395089|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21871821|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22301711|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23312806|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23564332|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24409384|PMID:24508103|PMID:24512911|PMID:24524299|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24719372|PMID:24775816|PMID:2500657|PMID:25024077|PMID:25035421|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26242988|PMID:26472072|PMID:26619011|PMID:26633545|PMID:26678033|PMID:27146152|PMID:27322245|PMID:27404270|PMID:27478040|PMID:27480103|PMID:28404629|PMID:28492532|PMID:28687512|PMID:28854169|PMID:28891408|PMID:29925953|PMID:30986545|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 11781420 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9538 multiple myeloma ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:16825433|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17603483|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24446311|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24920063|PMID:2493360|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27236105|PMID:27276561|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29907801|PMID:29925953|PMID:31277584|PMID:31336229|PMID:31779674|PMID:31891627|PMID:34476331 11781448 AKIRIN1 akirin 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11781448 AKIRIN1 akirin 1 gene DOID:630 genetic disease ISO RGD:1606232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11781456 GNA11 G protein subunit alpha 11 gene DOID:0060701 familial hypocalciuric hypercalcemia 2 ISO RGD:1342605 D RGD:7240710 20180130 OMIM 11781456 GNA11 G protein subunit alpha 11 gene DOID:0060701 familial hypocalciuric hypercalcemia 2 ISO RGD:1342605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 2 PMID:17576681|PMID:23802516|PMID:23802536|PMID:25741868|PMID:26729423|PMID:28194446|PMID:28492532|PMID:9536098 11781456 GNA11 G protein subunit alpha 11 gene DOID:0080351 CLOVES syndrome ISO RGD:1342605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi PMID:25741868|PMID:27476652 11781456 GNA11 G protein subunit alpha 11 gene DOID:0090108 autosomal dominant hypocalcemia 2 ISO RGD:1342605 D RGD:7240710 20180130 OMIM 11781456 GNA11 G protein subunit alpha 11 gene DOID:0090108 autosomal dominant hypocalcemia 2 ISO RGD:1342605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 2 PMID:23802516|PMID:23802536|PMID:24823460|PMID:25741868|PMID:26994139|PMID:28194446|PMID:28492532|PMID:6278146 11781456 GNA11 G protein subunit alpha 11 gene DOID:0111529 familial multiple nevi flammei ISO RGD:1342605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Capillary malformations, congenital PMID:25741868|PMID:27476652 11781456 GNA11 G protein subunit alpha 11 gene DOID:1682 congenital heart disease ISO RGD:1342605 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9687499 11781456 GNA11 G protein subunit alpha 11 gene DOID:1909 melanoma ISO RGD:1342605 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:1328859|PMID:21083380|PMID:21444680|PMID:22733540|PMID:22808163|PMID:24141786|PMID:25157968|PMID:2549426|PMID:25741868|PMID:26619011 11781456 GNA11 G protein subunit alpha 11 gene DOID:6039 uveal melanoma ISO RGD:1342605 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Uveal melanoma PMID:1328859|PMID:21083380|PMID:21444680|PMID:22733540|PMID:22808163|PMID:24141786|PMID:25157968|PMID:2549426|PMID:25741868|PMID:26619011 11781456 GNA11 G protein subunit alpha 11 gene DOID:630 genetic disease ISO RGD:1342605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11781456 GNA11 G protein subunit alpha 11 gene DOID:8923 skin melanoma ISO RGD:1342605 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:1328859|PMID:21083380|PMID:21444680|PMID:22733540|PMID:22808163|PMID:24141786|PMID:25157968|PMID:2549426|PMID:25741868|PMID:26619011 11781456 GNA11 G protein subunit alpha 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11781456 GNA11 G protein subunit alpha 11 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1551128 D RGD:9068941 20200609 RGD PMID:9687499|REF_RGD_ID:737757 11781470 GAREM2 GRB2 associated regulator of MAPK1 subtype 2 gene DOID:0111277 mitochondrial trifunctional protein deficiency ISO RGD:1603263 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency PMID:10234607|PMID:10352164|PMID:10518281|PMID:11773547|PMID:11855930|PMID:12237653|PMID:12442268|PMID:12971428|PMID:14630990|PMID:15902556|PMID:16199547|PMID:17143551|PMID:17576681|PMID:18408953|PMID:19852779|PMID:20583174|PMID:20814823|PMID:21103935|PMID:21549624|PMID:22459206|PMID:23430857|PMID:23868323|PMID:24033266|PMID:25087612|PMID:25741868|PMID:25888220|PMID:26024122|PMID:26109258|PMID:26653362|PMID:26676313|PMID:27014569|PMID:27117294|PMID:27334895|PMID:27491397|PMID:28245050|PMID:28492532|PMID:28559085|PMID:28798025|PMID:29095929|PMID:29124685|PMID:29519241|PMID:30029694|PMID:30626930|PMID:31589614|PMID:31980526|PMID:32778825|PMID:32860008|PMID:34878152|PMID:7738175|PMID:7811722|PMID:7846063|PMID:8739956|PMID:8770876|PMID:8865274|PMID:9003853|PMID:9266371|PMID:9536098 11781470 GAREM2 GRB2 associated regulator of MAPK1 subtype 2 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1603263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11781470 GAREM2 GRB2 associated regulator of MAPK1 subtype 2 gene DOID:630 genetic disease ISO RGD:1603263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10352164|PMID:10518281|PMID:11773547|PMID:14630990|PMID:15902556|PMID:18408953|PMID:19852779|PMID:20583174|PMID:20814823|PMID:21103935|PMID:21549624|PMID:23430857|PMID:23868323|PMID:24033266|PMID:25087612|PMID:25741868|PMID:25888220|PMID:26024122|PMID:26109258|PMID:26653362|PMID:26676313|PMID:27117294|PMID:27334895|PMID:27491397|PMID:28245050|PMID:28492532|PMID:28559085|PMID:28798025|PMID:29095929|PMID:30029694|PMID:7811722|PMID:7846063|PMID:8739956|PMID:8770876|PMID:9003853|PMID:9266371 11781470 GAREM2 GRB2 associated regulator of MAPK1 subtype 2 gene DOID:9002882 Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:1603263 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:10234607|PMID:10352164|PMID:10518281|PMID:11773547|PMID:11855930|PMID:12237653|PMID:12442268|PMID:12971428|PMID:14630990|PMID:15902556|PMID:16199547|PMID:18408953|PMID:19852779|PMID:20583174|PMID:20814823|PMID:21103935|PMID:21549624|PMID:22030098|PMID:22459206|PMID:23430857|PMID:23868323|PMID:24033266|PMID:25087612|PMID:25741868|PMID:25888220|PMID:26024122|PMID:26109258|PMID:26653362|PMID:26676313|PMID:27117294|PMID:27334895|PMID:27491397|PMID:28245050|PMID:28492532|PMID:28559085|PMID:28798025|PMID:29095929|PMID:29124685|PMID:29519241|PMID:30029694|PMID:30626930|PMID:30934865|PMID:31589614|PMID:31980526|PMID:32778825|PMID:33638202|PMID:34878152|PMID:35433174|PMID:7738175|PMID:7811722|PMID:7846063|PMID:8739956|PMID:8770876|PMID:8865274|PMID:9003853|PMID:9266371 11781470 GAREM2 GRB2 associated regulator of MAPK1 subtype 2 gene DOID:9008729 Mitochondrial Trifunctional Protein Deficiency 1 ISO RGD:1603263 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Trifunctional protein deficiency type 1 PMID:10352164|PMID:10518281|PMID:11773547|PMID:14630990|PMID:15902556|PMID:18408953|PMID:19852779|PMID:20583174|PMID:20814823|PMID:21103935|PMID:21549624|PMID:23430857|PMID:23868323|PMID:24033266|PMID:25087612|PMID:25741868|PMID:25888220|PMID:26024122|PMID:26109258|PMID:26653362|PMID:26676313|PMID:27117294|PMID:27334895|PMID:27491397|PMID:28245050|PMID:28492532|PMID:28559085|PMID:28798025|PMID:29095929|PMID:30029694|PMID:7811722|PMID:7846063|PMID:8739956|PMID:8770876|PMID:9003853|PMID:9266371 11781481 MRPS18B mitochondrial ribosomal protein S18B gene DOID:11372 megacolon ISO RGD:1349132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11781481 MRPS18B mitochondrial ribosomal protein S18B gene DOID:630 genetic disease ISO RGD:1349132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11781481 MRPS18B mitochondrial ribosomal protein S18B gene DOID:9000217 Stomach Neoplasms ISO RGD:1349132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11781481 MRPS18B mitochondrial ribosomal protein S18B gene DOID:9000918 Disease Progression ISO RGD:1349132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11781493 PITX2 paired like homeodomain 2 gene DOID:0050647 Arts syndrome ISO RGD:731390 D RGD:9068941 20200609 RGD DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) PMID:17701896|REF_RGD_ID:12910562 11781493 PITX2 paired like homeodomain 2 gene DOID:0050786 iridogoniodysgenesis syndrome ISO RGD:731390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Iridogoniodysgenesis syndrome PMID:25741868|PMID:28492532 11781493 PITX2 paired like homeodomain 2 gene DOID:0060224 atrial fibrillation ISO RGD:731390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 11781493 PITX2 paired like homeodomain 2 gene DOID:0060648 anterior segment dysgenesis ISO RGD:731390 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:15591271|PMID:25741868|PMID:32499604|PMID:35882526|PMID:7581385|PMID:9437321 11781493 PITX2 paired like homeodomain 2 gene DOID:0060673 Peters anomaly ISO RGD:731390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:15378534|PMID:25741868|PMID:26220699|PMID:28492532 11781493 PITX2 paired like homeodomain 2 gene DOID:0080606 anterior segment dysgenesis 1 ISO RGD:731390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis 1 PMID:15378534|PMID:25741868|PMID:26220699|PMID:28492532 11781493 PITX2 paired like homeodomain 2 gene DOID:0080609 anterior segment dysgenesis 4 ISO RGD:731390 D RGD:7240710 20180130 OMIM 11781493 PITX2 paired like homeodomain 2 gene DOID:0080609 anterior segment dysgenesis 4 ISO RGD:731390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis 4 | ClinVar Annotator: match by term: Iris hypoplasia with early onset glaucoma, autosomal dominant PMID:25741868|PMID:28492532|PMID:32499604|PMID:7581385|PMID:8942889|PMID:9437321|PMID:9618168 11781493 PITX2 paired like homeodomain 2 gene DOID:0080610 anterior segment dysgenesis 5 ISO RGD:731390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 PMID:15378534|PMID:25741868|PMID:26220699|PMID:28492532 11781493 PITX2 paired like homeodomain 2 gene DOID:0110120 Axenfeld-Rieger syndrome type 1 ISO RGD:731390 D RGD:7240710 20180130 OMIM 11781493 PITX2 paired like homeodomain 2 gene DOID:0110120 Axenfeld-Rieger syndrome type 1 ISO RGD:731390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 PMID:10051017|PMID:10490637|PMID:11301317|PMID:11487566|PMID:12130547|PMID:12381896|PMID:12612071|PMID:15378534|PMID:15591271|PMID:15728254|PMID:15895993|PMID:16389592|PMID:16498627|PMID:16936096|PMID:17167399|PMID:17576681|PMID:18045789|PMID:18723525|PMID:19052653|PMID:19218601|PMID:19513095|PMID:20881294|PMID:22224469|PMID:22569110|PMID:24604414|PMID:25741868|PMID:26220699|PMID:28492532|PMID:28611552|PMID:28730073|PMID:29100920|PMID:29506241|PMID:30457409|PMID:31529555|PMID:32499604|PMID:33304895|PMID:33492563|PMID:35882526|PMID:8944018|PMID:9536098|PMID:9685346 11781493 PITX2 paired like homeodomain 2 gene DOID:0111548 ring dermoid of cornea ISO RGD:731390 D RGD:7240710 20180130 OMIM 11781493 PITX2 paired like homeodomain 2 gene DOID:0111548 ring dermoid of cornea ISO RGD:731390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ring dermoid of cornea PMID:15378534|PMID:15591271|PMID:25741868|PMID:26220699|PMID:28492532|PMID:32499604|PMID:35882526 11781493 PITX2 paired like homeodomain 2 gene DOID:10283 prostate cancer ISO RGD:731390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11781493 PITX2 paired like homeodomain 2 gene DOID:1459 hypothyroidism ISO RGD:3331 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:ovary, granulosa cell PMID:17982271|REF_RGD_ID:5131997 11781493 PITX2 paired like homeodomain 2 gene DOID:14686 Axenfeld-Rieger syndrome ISO RGD:731390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome | ClinVar Annotator: match by term: Rieger anomaly PMID:25741868 11781493 PITX2 paired like homeodomain 2 gene DOID:1681 heart septal defect ISO RGD:731391 D RGD:9068941 20200609 RGD PMID:23361844|REF_RGD_ID:12910561 11781493 PITX2 paired like homeodomain 2 gene DOID:1682 congenital heart disease ISO RGD:731390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10499585 11781493 PITX2 paired like homeodomain 2 gene DOID:1686 glaucoma ISO RGD:731391 D RGD:9068941 20220825 MouseDO 11781493 PITX2 paired like homeodomain 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:731390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 11781493 PITX2 paired like homeodomain 2 gene DOID:3910 lung adenocarcinoma ISO RGD:731390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 11781493 PITX2 paired like homeodomain 2 gene DOID:630 genetic disease ISO RGD:731390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15895993|PMID:25741868|PMID:28492532|PMID:35882526|PMID:8944018 11781493 PITX2 paired like homeodomain 2 gene DOID:674 cleft palate ISO RGD:731391 D RGD:9068941 20200609 RGD PMID:12975342|REF_RGD_ID:12910559 11781493 PITX2 paired like homeodomain 2 gene DOID:83 cataract ISO RGD:731390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract PMID:15378534|PMID:25741868|PMID:26220699|PMID:28166811|PMID:28492532 11781493 PITX2 paired like homeodomain 2 gene DOID:83 cataract ISO RGD:731390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cataract PMID:15378534|PMID:25741868|PMID:26220699|PMID:28492532 11781493 PITX2 paired like homeodomain 2 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:3331 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:20926632|REF_RGD_ID:5131995 11781493 PITX2 paired like homeodomain 2 gene DOID:9000045 De Hauwere syndrome ISO RGD:731390 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities PMID:25741868 11781493 PITX2 paired like homeodomain 2 gene DOID:9005162 Familial Atrial Fibrillation 1 ISO RGD:731390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ATFB1 PMID:28492532 11781493 PITX2 paired like homeodomain 2 gene DOID:9007096 Stroke ISO RGD:731390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 11781493 PITX2 paired like homeodomain 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:731390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10499585|PMID:14623826 11781493 PITX2 paired like homeodomain 2 gene DOID:9009007 Tooth Abnormalities ISO RGD:731390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10499585 11781504 LOC100977893 laminin subunit alpha-3 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1345784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 11781504 LOC100977893 laminin subunit alpha-3 gene DOID:0060737 junctional epidermolysis bullosa Herlitz type ISO RGD:1345784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, GENERALIZED SEVERE | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz PMID:10366601|PMID:11810295|PMID:12915477|PMID:12943669|PMID:15373767|PMID:16199547|PMID:16473856|PMID:16971478|PMID:17362460|PMID:17576681|PMID:22434185|PMID:23869449|PMID:24033266|PMID:25363238|PMID:25525159|PMID:25741868|PMID:26635394|PMID:27375110|PMID:27827380|PMID:28087116|PMID:28492532|PMID:33274474|PMID:7633458|PMID:8530087|PMID:8618022|PMID:8824879|PMID:8983017|PMID:9536098 11781504 LOC100977893 laminin subunit alpha-3 gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISO RGD:1345784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type PMID:10366601|PMID:11810295|PMID:12915477|PMID:16473856|PMID:17362460|PMID:22434185|PMID:23869449|PMID:24033266|PMID:25363238|PMID:25741868|PMID:27827380|PMID:28087116|PMID:28492532 11781504 LOC100977893 laminin subunit alpha-3 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1345784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 11781504 LOC100977893 laminin subunit alpha-3 gene DOID:1059 intellectual disability ISO RGD:1345784 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11781504 LOC100977893 laminin subunit alpha-3 gene DOID:3209 junctional epidermolysis bullosa ISO RGD:1345784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa PMID:10366601|PMID:11810295|PMID:12915477|PMID:16473856|PMID:17362460|PMID:17916201|PMID:22434185|PMID:23869449|PMID:25741868|PMID:27827380|PMID:28087116|PMID:28492532 11781504 LOC100977893 laminin subunit alpha-3 gene DOID:4123 nail disease ISO RGD:1345784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12915477 11781504 LOC100977893 laminin subunit alpha-3 gene DOID:5409 lung small cell carcinoma ISO RGD:1345784 D RGD:9068941 20200609 RGD DNA:hyper-methylation:promoter: PMID:12855645|REF_RGD_ID:13793369 11781504 LOC100977893 laminin subunit alpha-3 gene DOID:630 genetic disease ISO RGD:1345784 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11781504 LOC100977893 laminin subunit alpha-3 gene DOID:8549 chronic ulcer of skin ISO RGD:1345784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12915477 11781504 LOC100977893 laminin subunit alpha-3 gene DOID:9001145 Junctional Epidermolysis Bullosa 1B, Severe ISO RGD:1345784 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE PMID:10366601|PMID:11810295|PMID:12915477|PMID:16473856|PMID:17362460|PMID:22434185|PMID:23869449|PMID:25525159|PMID:27827380|PMID:28087116|PMID:28492532|PMID:33274474 11781504 LOC100977893 laminin subunit alpha-3 gene DOID:9001245 Junctional Epidermolysis Bullosa 2A, Intermediate ISO RGD:1345784 D RGD:7240710 20220608 OMIM 11781504 LOC100977893 laminin subunit alpha-3 gene DOID:9001245 Junctional Epidermolysis Bullosa 2A, Intermediate ISO RGD:1345784 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 2A, intermediate PMID:11810295|PMID:25741868 11781504 LOC100977893 laminin subunit alpha-3 gene DOID:9001600 Wounds and Injuries ISO RGD:1345784 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15541073 11781504 LOC100977893 laminin subunit alpha-3 gene DOID:9005030 Junctional Epidermolysis Bullosa 2B, Severe ISO RGD:1345784 D RGD:7240710 20220608 OMIM 11781504 LOC100977893 laminin subunit alpha-3 gene DOID:9005030 Junctional Epidermolysis Bullosa 2B, Severe ISO RGD:1345784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 2B, severe PMID:10366601|PMID:11810295|PMID:12915477|PMID:16473856|PMID:17362460|PMID:22434185|PMID:23869449|PMID:25741868|PMID:27827380|PMID:28087116|PMID:28492532|PMID:7633458|PMID:8530087|PMID:8586427|PMID:8618022|PMID:8824879|PMID:8983017 11781504 LOC100977893 laminin subunit alpha-3 gene DOID:9005848 WEISS-KRUSZKA SYNDROME ISO RGD:1345784 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Weiss-kruszka syndrome PMID:25741868|PMID:28492532 11781504 LOC100977893 laminin subunit alpha-3 gene DOID:9007903 Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous ISO RGD:1345784 D RGD:7240710 20180130 OMIM 11781504 LOC100977893 laminin subunit alpha-3 gene DOID:9007903 Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous ISO RGD:1345784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laryngo-onycho-cutaneous syndrome PMID:10366601|PMID:11810295|PMID:12915477|PMID:16473856|PMID:17362460|PMID:17576681|PMID:22434185|PMID:23869449|PMID:24033266|PMID:25363238|PMID:25741868|PMID:26635394|PMID:27827380|PMID:28087116|PMID:28492532|PMID:35314946|PMID:7633458|PMID:8530087|PMID:8618022|PMID:8824879|PMID:8983017|PMID:9536098 11781584 PGS1 phosphatidylglycerophosphate synthase 1 gene DOID:630 genetic disease ISO RGD:1606322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11781584 PGS1 phosphatidylglycerophosphate synthase 1 gene DOID:9002189 High Myopia ISO RGD:1606322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11781610 TPGS2 tubulin polyglutamylase complex subunit 2 gene DOID:1059 intellectual disability ISO RGD:1321554 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11781610 TPGS2 tubulin polyglutamylase complex subunit 2 gene DOID:630 genetic disease ISO RGD:1321554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11781629 GPR160 G protein-coupled receptor 160 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1345785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 11781629 GPR160 G protein-coupled receptor 160 gene DOID:1062 Fanconi syndrome ISO RGD:1345785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 11781629 GPR160 G protein-coupled receptor 160 gene DOID:630 genetic disease ISO RGD:1345785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11781639 BLM BLM RecQ like helicase gene DOID:0050771 pheochromocytoma ISO RGD:1318795 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:25741868|PMID:28492532 11781639 BLM BLM RecQ like helicase gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1318795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 11781639 BLM BLM RecQ like helicase gene DOID:10907 microcephaly ISO RGD:1318795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32566746 11781639 BLM BLM RecQ like helicase gene DOID:2394 ovarian cancer ISO RGD:1318795 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:23129629|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29338689|PMID:29641532|PMID:30840646|PMID:31360874|PMID:31562900|PMID:32566746 11781639 BLM BLM RecQ like helicase gene DOID:2717 Bloom syndrome ISO RGD:1318795 D RGD:7240710 20180130 OMIM 11781639 BLM BLM RecQ like helicase gene DOID:2717 Bloom syndrome ISO RGD:1318795 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:10069810|PMID:10090915|PMID:10569803|PMID:10734115|PMID:10812332|PMID:10965492|PMID:11399766|PMID:12242432|PMID:12444098|PMID:15579905|PMID:15609317|PMID:15930159|PMID:15990871|PMID:16199547|PMID:16876111|PMID:17407155|PMID:17576681|PMID:17878217|PMID:18414213|PMID:18471088|PMID:19763152|PMID:19917125|PMID:20301572|PMID:20307669|PMID:20639533|PMID:20980836|PMID:21113733|PMID:21815139|PMID:22406018|PMID:22582397|PMID:22657828|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23161009|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:23960188|PMID:24033266|PMID:24096176|PMID:24118499|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25640679|PMID:25653542|PMID:25741868|PMID:25741877|PMID:25794620|PMID:25850943|PMID:25901030|PMID:26028025|PMID:26247052|PMID:26296701|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26580448|PMID:26585945|PMID:26681682|PMID:26689913|PMID:26786923|PMID:2678854|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27516001|PMID:27657136|PMID:27854218|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28195393|PMID:28232778|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28724667|PMID:28832562|PMID:28873162|PMID:28877996|PMID:28944238|PMID:29098565|PMID:29212164|PMID:29338689|PMID:29439820|PMID:29453417|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30152102|PMID:30214071|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30541756|PMID:30613976|PMID:30666157|PMID:30840646|PMID:30871259|PMID:30995915|PMID:31118792|PMID:31159747|PMID:31212687|PMID:31253795|PMID:31263571|PMID:31360874|PMID:31562900|PMID:31780696|PMID:31816118|PMID:31844177|PMID:31937788|PMID:31942411|PMID:31956452|PMID:31970404|PMID:32073752|PMID:32107087|PMID:32283892|PMID:32449991|PMID:32566746|PMID:32595206|PMID:32860008|PMID:32868804|PMID:32923906|PMID:33073370|PMID:33077847|PMID:33193653|PMID:33318203|PMID:33332384|PMID:33436027|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33647232|PMID:33832920|PMID:34177791|PMID:7585968|PMID:9285778|PMID:9388480|PMID:9536098|PMID:9758720|PMID:9837821|PMID:9840919 11781639 BLM BLM RecQ like helicase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:17407155|PMID:23129629|PMID:23292937|PMID:24728327|PMID:24816114|PMID:25653542|PMID:25741868|PMID:26467025|PMID:26503572|PMID:26788541|PMID:28492532|PMID:29338689|PMID:30214240|PMID:30840646|PMID:32566746|PMID:7585968 11781639 BLM BLM RecQ like helicase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318795 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:17407155|PMID:23129629|PMID:23292937|PMID:24728327|PMID:24816114|PMID:25653542|PMID:25741868|PMID:26467025|PMID:26503572|PMID:26788541|PMID:28492532|PMID:28724667|PMID:29338689|PMID:30214240|PMID:30840646|PMID:31118792|PMID:31360874|PMID:32107087|PMID:32566746|PMID:32868804|PMID:7585968 11781639 BLM BLM RecQ like helicase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318795 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:17407155|PMID:23129629|PMID:23292937|PMID:23960188|PMID:24728327|PMID:24816114|PMID:25653542|PMID:25741868|PMID:26467025|PMID:26503572|PMID:26788541|PMID:28492532|PMID:28724667|PMID:28944238|PMID:29338689|PMID:29641532|PMID:30214240|PMID:30840646|PMID:31118792|PMID:31360874|PMID:32107087|PMID:32566746|PMID:32868804|PMID:7585968 11781639 BLM BLM RecQ like helicase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17407155|PMID:17576681|PMID:23129629|PMID:23292937|PMID:23960188|PMID:24728327|PMID:24816114|PMID:25653542|PMID:25741868|PMID:26467025|PMID:26503572|PMID:26788541|PMID:28492532|PMID:28724667|PMID:28944238|PMID:29338689|PMID:29641532|PMID:30214240|PMID:30840646|PMID:31118792|PMID:31360874|PMID:32107087|PMID:32566746|PMID:32868804|PMID:7585968|PMID:9536098 11781639 BLM BLM RecQ like helicase gene DOID:630 genetic disease ISO RGD:1318795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23129629|PMID:24728327|PMID:25741868|PMID:26788541|PMID:28492532 11781639 BLM BLM RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:19917125|PMID:20301572|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26585945|PMID:26681682|PMID:26786923|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27657136|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28832562|PMID:28873162|PMID:28877996|PMID:29098565|PMID:29338689|PMID:29439820|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30840646|PMID:30995915|PMID:31159747|PMID:31253795|PMID:31780696|PMID:31816118|PMID:31970404|PMID:32566746|PMID:32860008|PMID:7585968|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919 11781639 BLM BLM RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318795 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:19917125|PMID:20301572|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26585945|PMID:26681682|PMID:26786923|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27657136|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28832562|PMID:28873162|PMID:28877996|PMID:29098565|PMID:29338689|PMID:29439820|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30840646|PMID:30995915|PMID:31159747|PMID:31253795|PMID:31780696|PMID:31816118|PMID:31970404|PMID:32073752|PMID:32566746|PMID:32860008|PMID:7585968|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919 11781639 BLM BLM RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318795 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:19917125|PMID:20301572|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26580448|PMID:26585945|PMID:26681682|PMID:26689913|PMID:26786923|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27657136|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28232778|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28724667|PMID:28832562|PMID:28873162|PMID:28944238|PMID:29098565|PMID:29338689|PMID:29439820|PMID:29453417|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30152102|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30613976|PMID:30666157|PMID:30840646|PMID:30995915|PMID:31118792|PMID:31159747|PMID:31253795|PMID:31263571|PMID:31360874|PMID:31780696|PMID:31816118|PMID:31956452|PMID:31970404|PMID:32073752|PMID:32107087|PMID:32283892|PMID:32566746|PMID:32860008|PMID:32868804|PMID:33318203|PMID:33436027|PMID:33832920|PMID:7585968|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919 11781639 BLM BLM RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318795 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:19917125|PMID:20301572|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26580448|PMID:26585945|PMID:26681682|PMID:26689913|PMID:26786923|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27657136|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28232778|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28724667|PMID:28832562|PMID:28873162|PMID:28944238|PMID:29098565|PMID:29338689|PMID:29439820|PMID:29453417|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30152102|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30613976|PMID:30666157|PMID:30840646|PMID:30995915|PMID:31118792|PMID:31159747|PMID:31253795|PMID:31263571|PMID:31360874|PMID:31780696|PMID:31816118|PMID:31937788|PMID:31956452|PMID:31970404|PMID:32073752|PMID:32107087|PMID:32283892|PMID:32566746|PMID:32860008|PMID:32868804|PMID:33318203|PMID:33436027|PMID:33606809|PMID:33832920|PMID:7585968|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919 11781639 BLM BLM RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318795 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:15930159|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:18471088|PMID:19917125|PMID:20301572|PMID:20980836|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23161009|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:23960188|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:25850943|PMID:25901030|PMID:26028025|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26580448|PMID:26585945|PMID:26681682|PMID:26689913|PMID:26786923|PMID:2678854|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27516001|PMID:27657136|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28195393|PMID:28232778|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28724667|PMID:28832562|PMID:28873162|PMID:28944238|PMID:29098565|PMID:29212164|PMID:29338689|PMID:29439820|PMID:29453417|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30152102|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30613976|PMID:30666157|PMID:30840646|PMID:30871259|PMID:30995915|PMID:31118792|PMID:31159747|PMID:31253795|PMID:31263571|PMID:31360874|PMID:31562900|PMID:31780696|PMID:31816118|PMID:31937788|PMID:31942411|PMID:31956452|PMID:31970404|PMID:32073752|PMID:32107087|PMID:32283892|PMID:32449991|PMID:32566746|PMID:32595206|PMID:32860008|PMID:32868804|PMID:32923906|PMID:33077847|PMID:33318203|PMID:33436027|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33647232|PMID:33832920|PMID:34177791|PMID:7585968|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919 11781639 BLM BLM RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318795 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:15930159|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:18471088|PMID:19917125|PMID:20301572|PMID:20980836|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23161009|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:23960188|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:25794620|PMID:25850943|PMID:25901030|PMID:26028025|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26580448|PMID:26585945|PMID:26681682|PMID:26689913|PMID:26786923|PMID:2678854|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27516001|PMID:27657136|PMID:27854218|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28195393|PMID:28232778|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28724667|PMID:28832562|PMID:28873162|PMID:28877996|PMID:28944238|PMID:29098565|PMID:29212164|PMID:29338689|PMID:29439820|PMID:29453417|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30152102|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30541756|PMID:30613976|PMID:30666157|PMID:30840646|PMID:30871259|PMID:30995915|PMID:31118792|PMID:31159747|PMID:31253795|PMID:31263571|PMID:31360874|PMID:31562900|PMID:31780696|PMID:31816118|PMID:31911633|PMID:31937788|PMID:31942411|PMID:31956452|PMID:31970404|PMID:32073752|PMID:32107087|PMID:32283892|PMID:32449991|PMID:32566746|PMID:32595206|PMID:32860008|PMID:32868804|PMID:32923906|PMID:33077847|PMID:33318203|PMID:33332384|PMID:33436027|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33647232|PMID:33832920|PMID:34177791|PMID:7585968|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919 11781639 BLM BLM RecQ like helicase gene DOID:9256 colorectal cancer ISO RGD:1318795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11781670 FKBP7 FKBP prolyl isomerase 7 gene DOID:0090048 dystonia 16 ISO RGD:1313236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia 16 PMID:28492532 11781670 FKBP7 FKBP prolyl isomerase 7 gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1313236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:18948003|PMID:23975875|PMID:24395473|PMID:25589632|PMID:28492532|PMID:30557390 11781670 FKBP7 FKBP prolyl isomerase 7 gene DOID:630 genetic disease ISO RGD:1313236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11781680 TPP2 tripeptidyl peptidase 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:734318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 11781680 TPP2 tripeptidyl peptidase 2 gene DOID:14701 propionic acidemia ISO RGD:734318 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 11781680 TPP2 tripeptidyl peptidase 2 gene DOID:630 genetic disease ISO RGD:734318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11781680 TPP2 tripeptidyl peptidase 2 gene DOID:9001840 Immunodeficiency 78 with Autoimmunity and Developmental Delay ISO RGD:734318 D RGD:7240710 20210324 OMIM 11781680 TPP2 tripeptidyl peptidase 2 gene DOID:9001840 Immunodeficiency 78 with Autoimmunity and Developmental Delay ISO RGD:734318 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Immunodeficiency 78 with autoimmunity and developmental delay PMID:25414442|PMID:25525876|PMID:25741868|PMID:28492532|PMID:30533531|PMID:33586135 11781680 TPP2 tripeptidyl peptidase 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:734318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11781680 TPP2 tripeptidyl peptidase 2 gene DOID:9004484 Sepsis ISO RGD:621584 D RGD:9068941 20211217 RGD mRNA, protein:increased expression, increased activity:extensor digitorum longus (rat) PMID:12147224|REF_RGD_ID:634435 11781680 TPP2 tripeptidyl peptidase 2 gene DOID:9008086 Developmental Disabilities ISO RGD:734318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:33586135 11781680 TPP2 tripeptidyl peptidase 2 gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:734318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:16199547|PMID:17576681|PMID:25414442|PMID:25640679|PMID:25741868|PMID:28492532|PMID:30533531|PMID:33583942|PMID:33586135|PMID:9536098 11781714 LRRN2 leucine rich repeat neuronal 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1313534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11781714 LRRN2 leucine rich repeat neuronal 2 gene DOID:12849 autistic disorder ISO RGD:1313534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11781714 LRRN2 leucine rich repeat neuronal 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1313534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11781714 LRRN2 leucine rich repeat neuronal 2 gene DOID:630 genetic disease ISO RGD:1313534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11781714 LRRN2 leucine rich repeat neuronal 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1313534 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11781714 LRRN2 leucine rich repeat neuronal 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11781734 RAB25 RAB25, member RAS oncogene family gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1318219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11781734 RAB25 RAB25, member RAS oncogene family gene DOID:0060586 Noonan syndrome 8 ISO RGD:1318219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 11781734 RAB25 RAB25, member RAS oncogene family gene DOID:0111940 immunodeficiency 42 ISO RGD:1318219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11781734 RAB25 RAB25, member RAS oncogene family gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1318219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11781734 RAB25 RAB25, member RAS oncogene family gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1318219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11781734 RAB25 RAB25, member RAS oncogene family gene DOID:1540 parathyroid carcinoma ISO RGD:1318219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11781734 RAB25 RAB25, member RAS oncogene family gene DOID:5812 MHC class II deficiency ISO RGD:1318219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11781734 RAB25 RAB25, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1318219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11781734 RAB25 RAB25, member RAS oncogene family gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11781747 RNFT2 ring finger protein, transmembrane 2 gene DOID:630 genetic disease ISO RGD:1605925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11781775 SLC22A23 solute carrier family 22 member 23 gene DOID:630 genetic disease ISO RGD:1347503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11781775 SLC22A23 solute carrier family 22 member 23 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11781792 PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase gene DOID:0080016 spina bifida ISO RGD:733720 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16256389 11781792 PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase gene DOID:10652 Alzheimer's disease ISO RGD:733720 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex: PMID:8736634|REF_RGD_ID:10448277 11781792 PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase gene DOID:3069 malignant astrocytoma ISO RGD:733720 D RGD:9068941 20200609 RGD protein:decreased expression,decreased activity:brain: PMID:15857672|REF_RGD_ID:10448283 11781792 PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase gene DOID:3070 high grade glioma ISO RGD:3268 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain: PMID:15857672|REF_RGD_ID:10448283 11781792 PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase gene DOID:6000 congestive heart failure ISO RGD:733721 D RGD:9068941 20200609 RGD protein:decreased expression:heart: PMID:23647599|REF_RGD_ID:10448278 11781792 PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase gene DOID:630 genetic disease ISO RGD:733720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11781792 PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase gene DOID:9008752 Aortic Injuries ISO RGD:3268 D RGD:9068941 20200609 RGD PMID:9188065|REF_RGD_ID:10448925 11781803 ZNF395 zinc finger protein 395 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1317282 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11781803 ZNF395 zinc finger protein 395 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1317282 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11781803 ZNF395 zinc finger protein 395 gene DOID:630 genetic disease ISO RGD:1317282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11781834 GINM1 glycosylated integral membrane protein 1 gene DOID:630 genetic disease ISO RGD:1320268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11781846 PPA2 inorganic pyrophosphatase 2 gene DOID:630 genetic disease ISO RGD:1604365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:27523597|PMID:27523598|PMID:28492532|PMID:30384889|PMID:31705601|PMID:33028643|PMID:33826954|PMID:34400813 11781846 PPA2 inorganic pyrophosphatase 2 gene DOID:9003269 Sudden Cardiac Failure, Infantile ISO RGD:1604365 D RGD:7240710 20190315 OMIM 11781846 PPA2 inorganic pyrophosphatase 2 gene DOID:9003269 Sudden Cardiac Failure, Infantile ISO RGD:1604365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden cardiac failure, infantile PMID:24033266|PMID:25741868|PMID:27523597|PMID:27523598|PMID:28492532|PMID:30384889|PMID:31705601|PMID:33028643|PMID:33826954|PMID:34400813 11781846 PPA2 inorganic pyrophosphatase 2 gene DOID:9004710 Alcohol-Induced Sudden Cardiac Failure ISO RGD:1604365 D RGD:7240710 20190315 OMIM 11781846 PPA2 inorganic pyrophosphatase 2 gene DOID:9004710 Alcohol-Induced Sudden Cardiac Failure ISO RGD:1604365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden cardiac failure, alcohol-induced PMID:24033266|PMID:25741868|PMID:27523597|PMID:27523598|PMID:28492532|PMID:30384889|PMID:31705601|PMID:33028643|PMID:34400813 11781869 ATOH1 atonal bHLH transcription factor 1 gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:1349240 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Dominant progressive sensorineural hearing loss PMID:25741868|PMID:33111345 11781869 ATOH1 atonal bHLH transcription factor 1 gene DOID:0050902 medulloblastoma ISO RGD:1349240 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18347096 11781869 ATOH1 atonal bHLH transcription factor 1 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1349240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:25741868 11781869 ATOH1 atonal bHLH transcription factor 1 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1349240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:25741868 11781869 ATOH1 atonal bHLH transcription factor 1 gene DOID:630 genetic disease ISO RGD:1349240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11781869 ATOH1 atonal bHLH transcription factor 1 gene DOID:9003948 Autosomal Dominant Nonsyndromic Deafness 89 ISO RGD:1349240 D RGD:7240710 20230505 OMIM 11781869 ATOH1 atonal bHLH transcription factor 1 gene DOID:9003948 Autosomal Dominant Nonsyndromic Deafness 89 ISO RGD:1349240 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 89 PMID:25741868|PMID:33111345 11781869 ATOH1 atonal bHLH transcription factor 1 gene DOID:9004538 Hearing Loss ISO RGD:1349240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing loss PMID:25741868 11781869 ATOH1 atonal bHLH transcription factor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1349240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11781874 SRSF2 serine and arginine rich splicing factor 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1343626 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple (human) PMID:23280334|REF_RGD_ID:11039052 11781874 SRSF2 serine and arginine rich splicing factor 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1553658 D RGD:9068941 20220825 MouseDO OMIM:614286 11781874 SRSF2 serine and arginine rich splicing factor 2 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:1343626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome PMID:27993330 11781874 SRSF2 serine and arginine rich splicing factor 2 gene DOID:305 carcinoma ISO RGD:1343626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11781874 SRSF2 serine and arginine rich splicing factor 2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1343626 D RGD:9068941 20210917 RGD protein:increased expression:lung epithelium,nucleus PMID:23071587|REF_RGD_ID:150429662 11781874 SRSF2 serine and arginine rich splicing factor 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1343626 D RGD:9068941 20210917 RGD protein:increased expression:lung epithelium,nucleus PMID:23071587|REF_RGD_ID:150429662 11781874 SRSF2 serine and arginine rich splicing factor 2 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1343626 D RGD:9068941 20210917 RGD PMID:23071587|REF_RGD_ID:150429662 11781874 SRSF2 serine and arginine rich splicing factor 2 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1343626 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney (human) PMID:21082031|REF_RGD_ID:11039407 11781874 SRSF2 serine and arginine rich splicing factor 2 gene DOID:5410 pulmonary neuroendocrine tumor ISO RGD:1343626 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (human) PMID:23518498|REF_RGD_ID:11039050 11781874 SRSF2 serine and arginine rich splicing factor 2 gene DOID:6000 congestive heart failure disease_progression ISO RGD:1343626 D RGD:9068941 20221027 RGD DNA:mutations: : PMID:33779075|REF_RGD_ID:155630627 11781874 SRSF2 serine and arginine rich splicing factor 2 gene DOID:630 genetic disease ISO RGD:1343626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11781874 SRSF2 serine and arginine rich splicing factor 2 gene DOID:678 progressive supranuclear palsy ISO RGD:1343626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25402454 11781874 SRSF2 serine and arginine rich splicing factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1553658 D RGD:9068941 20210917 RGD PMID:32372053|REF_RGD_ID:150429663 11781874 SRSF2 serine and arginine rich splicing factor 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1343626 D RGD:9068941 20210917 RGD PMID:29278882|REF_RGD_ID:150429692 11781874 SRSF2 serine and arginine rich splicing factor 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1343626 D RGD:9068941 20210917 RGD PMID:28082404|REF_RGD_ID:150429666 11781874 SRSF2 serine and arginine rich splicing factor 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1343626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11781874 SRSF2 serine and arginine rich splicing factor 2 gene DOID:9000965 Neoplasm Metastasis severity ISO RGD:1343626 D RGD:9068941 20210917 RGD associated with hepatocellular carcinoma PMID:29278882|REF_RGD_ID:150429692 11781874 SRSF2 serine and arginine rich splicing factor 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1343626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11781874 SRSF2 serine and arginine rich splicing factor 2 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1343626 D RGD:9068941 20200609 RGD mRNA:increased expression:head and neck (human) PMID:21764905|REF_RGD_ID:11039047 11781874 SRSF2 serine and arginine rich splicing factor 2 gene DOID:9119 acute myeloid leukemia severity ISO RGD:1343626 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:22431577|REF_RGD_ID:11039017 11781900 DNAH12 dynein axonemal heavy chain 12 gene DOID:11372 megacolon ISO RGD:1603257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11781900 DNAH12 dynein axonemal heavy chain 12 gene DOID:630 genetic disease ISO RGD:1603257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11781900 DNAH12 dynein axonemal heavy chain 12 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1603257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 11781982 SOD2 superoxide dismutase 2 gene DOID:0050424 familial adenomatous polyposis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12907644 11781982 SOD2 superoxide dismutase 2 gene DOID:0050464 Farber lipogranulomatosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10428046 11781982 SOD2 superoxide dismutase 2 gene DOID:0050700 cardiomyopathy ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:15890620|REF_RGD_ID:1581220 11781982 SOD2 superoxide dismutase 2 gene DOID:0050700 cardiomyopathy ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23536361 11781982 SOD2 superoxide dismutase 2 gene DOID:0050700 cardiomyopathy ISO RGD:730872 D RGD:9068941 20200609 RGD associated with hemochromatosis;DNA:polymorphism: :p.A16V (human) PMID:15591282|REF_RGD_ID:1580836 11781982 SOD2 superoxide dismutase 2 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 11781982 SOD2 superoxide dismutase 2 gene DOID:0050855 renal fibrosis ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:19458120|REF_RGD_ID:7175536 11781982 SOD2 superoxide dismutase 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332|PMID:21472284 11781982 SOD2 superoxide dismutase 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:11330 D RGD:9068941 20220825 MouseDO OMIM:105400 11781982 SOD2 superoxide dismutase 2 gene DOID:0060326 myelomeningocele ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22972774 11781982 SOD2 superoxide dismutase 2 gene DOID:0080132 Sengers syndrome ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23266196 11781982 SOD2 superoxide dismutase 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15094225|REF_RGD_ID:1581245 11781982 SOD2 superoxide dismutase 2 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:24597775|REF_RGD_ID:11352823 11781982 SOD2 superoxide dismutase 2 gene DOID:0080522 thyroid gland anaplastic carcinoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15887859 11781982 SOD2 superoxide dismutase 2 gene DOID:0080547 non-alcoholic steatohepatitis susceptibility ISO RGD:3732 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:20606728|REF_RGD_ID:21076282 11781982 SOD2 superoxide dismutase 2 gene DOID:0080547 non-alcoholic steatohepatitis susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:24649902|REF_RGD_ID:26923960 11781982 SOD2 superoxide dismutase 2 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:730872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 11781982 SOD2 superoxide dismutase 2 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:730872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 11781982 SOD2 superoxide dismutase 2 gene DOID:10003 sensorineural hearing loss ISO RGD:3732 D RGD:9068941 20200609 RGD protein:increased activity:cochlea: PMID:15109710|REF_RGD_ID:8547516 11781982 SOD2 superoxide dismutase 2 gene DOID:10534 stomach cancer ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:12469139|REF_RGD_ID:1581255 11781982 SOD2 superoxide dismutase 2 gene DOID:10584 retinitis pigmentosa ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:19293779|REF_RGD_ID:8158049 11781982 SOD2 superoxide dismutase 2 gene DOID:10588 adrenoleukodystrophy ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16319717 11781982 SOD2 superoxide dismutase 2 gene DOID:10652 Alzheimer's disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19374891 11781982 SOD2 superoxide dismutase 2 gene DOID:10652 Alzheimer's disease ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:16369462|REF_RGD_ID:1579972 11781982 SOD2 superoxide dismutase 2 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs2842980(human) PMID:23638916|REF_RGD_ID:8158079 11781982 SOD2 superoxide dismutase 2 gene DOID:10763 hypertension ISO RGD:3732 D RGD:9068941 20200609 RGD PMID:16716903|REF_RGD_ID:1580833 11781982 SOD2 superoxide dismutase 2 gene DOID:10763 hypertension ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11834524|PMID:21593737|PMID:25101153 11781982 SOD2 superoxide dismutase 2 gene DOID:10763 hypertension ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:16716903|REF_RGD_ID:1580833 11781982 SOD2 superoxide dismutase 2 gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.V16A(rs4880)(human) PMID:18573360|REF_RGD_ID:8158102 11781982 SOD2 superoxide dismutase 2 gene DOID:11054 urinary bladder cancer ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14729580|PMID:18930813 11781982 SOD2 superoxide dismutase 2 gene DOID:11054 urinary bladder cancer ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:17974967|REF_RGD_ID:7175539 11781982 SOD2 superoxide dismutase 2 gene DOID:11088 asphyxia neonatorum ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963755 11781982 SOD2 superoxide dismutase 2 gene DOID:11335 sarcoidosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10673208 11781982 SOD2 superoxide dismutase 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:3732 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:25070658|REF_RGD_ID:11035305 11781982 SOD2 superoxide dismutase 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 11781982 SOD2 superoxide dismutase 2 gene DOID:11476 osteoporosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 11781982 SOD2 superoxide dismutase 2 gene DOID:11476 osteoporosis no_association ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:SNPs:5' utr, exon, intron:multiple PMID:26336112|REF_RGD_ID:11035299 11781982 SOD2 superoxide dismutase 2 gene DOID:11476 osteoporosis susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:SNPs:intron, exon:g.31A>G, g.327C>T (p.A16V) (rs5746094, rs4880) (human) PMID:26336112|REF_RGD_ID:11035299 11781982 SOD2 superoxide dismutase 2 gene DOID:11713 diabetic angiopathy ISO RGD:730872 D RGD:7240710 20180130 OMIM 11781982 SOD2 superoxide dismutase 2 gene DOID:11713 diabetic angiopathy ISO RGD:730872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUPEROXIDE DISMUTASE 2 POLYMORPHISM PMID:10425186|PMID:12624725|PMID:15591282|PMID:16538174|PMID:17192491|PMID:8633092 11781982 SOD2 superoxide dismutase 2 gene DOID:11714 gestational diabetes ISO RGD:730872 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:23956348|PMID:30738174|PMID:34175429 11781982 SOD2 superoxide dismutase 2 gene DOID:1184 nephrotic syndrome ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9152291 11781982 SOD2 superoxide dismutase 2 gene DOID:1184 nephrotic syndrome ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:9152291|REF_RGD_ID:11035285 11781982 SOD2 superoxide dismutase 2 gene DOID:11963 esophagitis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11121210 11781982 SOD2 superoxide dismutase 2 gene DOID:1210 optic neuritis ISO RGD:11330 D RGD:9068941 20200609 RGD associated with Encephalomyelitis, Autoimmune, Experimental; PMID:17251466|REF_RGD_ID:8158052 11781982 SOD2 superoxide dismutase 2 gene DOID:1210 optic neuritis ISO RGD:730872 D RGD:9068941 20200609 RGD associated with Encephalomyelitis, Autoimmune, Experimental; PMID:17251466|REF_RGD_ID:8158052 11781982 SOD2 superoxide dismutase 2 gene DOID:12217 Lewy body dementia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16141792 11781982 SOD2 superoxide dismutase 2 gene DOID:12236 primary biliary cholangitis ISO RGD:730872 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:1682406|REF_RGD_ID:2317411 11781982 SOD2 superoxide dismutase 2 gene DOID:12306 vitiligo disease_progression ISO RGD:730872 D RGD:9068941 20200609 RGD DNA, mRNA, protein:SNPs, increased expression:cds:p.L84F (rs11575993), p.T58I (rs35289490), skin, leukocyte (human) PMID:24036105|REF_RGD_ID:8547522 11781982 SOD2 superoxide dismutase 2 gene DOID:12336 male infertility ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22206979 11781982 SOD2 superoxide dismutase 2 gene DOID:12556 acute kidney tubular necrosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19917352 11781982 SOD2 superoxide dismutase 2 gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11907800|PMID:14680979 11781982 SOD2 superoxide dismutase 2 gene DOID:12858 Huntington's disease susceptibility ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:11161607|REF_RGD_ID:13464352 11781982 SOD2 superoxide dismutase 2 gene DOID:1289 neurodegenerative disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10942521|PMID:12709579|PMID:15964507 11781982 SOD2 superoxide dismutase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:11677043|REF_RGD_ID:1581260 11781982 SOD2 superoxide dismutase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:11330 D RGD:9068941 20220825 MouseDO 11781982 SOD2 superoxide dismutase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16155095|PMID:21195081 11781982 SOD2 superoxide dismutase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:10425186|REF_RGD_ID:1580837 11781982 SOD2 superoxide dismutase 2 gene DOID:13141 uveitis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578012|PMID:21850155 11781982 SOD2 superoxide dismutase 2 gene DOID:1324 lung cancer ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15213518|REF_RGD_ID:1581247 11781982 SOD2 superoxide dismutase 2 gene DOID:13641 exfoliation syndrome ISO RGD:730872 D RGD:9068941 20200609 RGD associated with cataract;mRNA:increased expression:lens epithelium: PMID:23805041|REF_RGD_ID:8158048 11781982 SOD2 superoxide dismutase 2 gene DOID:13641 exfoliation syndrome ISO RGD:730872 D RGD:9068941 20200609 RGD associated with glaucoma,primary open angle; mRNA:increased expression: ciliary body, iris: PMID:18055805|REF_RGD_ID:7794853 11781982 SOD2 superoxide dismutase 2 gene DOID:1389 polyneuropathy ISO RGD:730872 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:polymorphism:exon:p.A-9V (human) PMID:12815947|REF_RGD_ID:1581254 11781982 SOD2 superoxide dismutase 2 gene DOID:13948 bladder neck obstruction ISO RGD:3732 D RGD:9068941 20200609 RGD PMID:21060756|REF_RGD_ID:7175518 11781982 SOD2 superoxide dismutase 2 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19731237 11781982 SOD2 superoxide dismutase 2 gene DOID:14018 alcoholic liver cirrhosis susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:SNP: : 47T>C(human) PMID:26873981|REF_RGD_ID:11060603 11781982 SOD2 superoxide dismutase 2 gene DOID:14323 Marfan syndrome ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 11781982 SOD2 superoxide dismutase 2 gene DOID:14330 Parkinson's disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17188257|PMID:18353766|PMID:25279756 11781982 SOD2 superoxide dismutase 2 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:11161607|REF_RGD_ID:13464352 11781982 SOD2 superoxide dismutase 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:12946273|REF_RGD_ID:1581253 11781982 SOD2 superoxide dismutase 2 gene DOID:14566 disease of cellular proliferation ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:14679299|REF_RGD_ID:8158045 11781982 SOD2 superoxide dismutase 2 gene DOID:14566 disease of cellular proliferation ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11165872|PMID:11278550|PMID:11853549|PMID:12032862|PMID:17632733|PMID:19676086 11781982 SOD2 superoxide dismutase 2 gene DOID:1459 hypothyroidism treatment ISO RGD:3732 D RGD:9068941 20200903 RGD PMID:29896255|REF_RGD_ID:38549578 11781982 SOD2 superoxide dismutase 2 gene DOID:1470 major depressive disorder ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20471444 11781982 SOD2 superoxide dismutase 2 gene DOID:14749 methylmalonic acidemia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 11781982 SOD2 superoxide dismutase 2 gene DOID:1555 urticaria ISO RGD:730872 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:12780723|REF_RGD_ID:8547524 11781982 SOD2 superoxide dismutase 2 gene DOID:1612 breast cancer ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15883815|REF_RGD_ID:1581240 11781982 SOD2 superoxide dismutase 2 gene DOID:1679 cystitis ISO RGD:3732 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder PMID:26109091|REF_RGD_ID:11035303 11781982 SOD2 superoxide dismutase 2 gene DOID:1749 squamous cell carcinoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12543247|PMID:15274141 11781982 SOD2 superoxide dismutase 2 gene DOID:178 vascular disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18596060 11781982 SOD2 superoxide dismutase 2 gene DOID:1790 malignant mesothelioma ISO RGD:730872 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:20617513 11781982 SOD2 superoxide dismutase 2 gene DOID:1793 pancreatic cancer ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17895890 11781982 SOD2 superoxide dismutase 2 gene DOID:1793 pancreatic cancer ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:12700280|REF_RGD_ID:1581235 11781982 SOD2 superoxide dismutase 2 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:730872 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:12499913|REF_RGD_ID:2317410 11781982 SOD2 superoxide dismutase 2 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.A16V (human) PMID:18205184|REF_RGD_ID:2317406 11781982 SOD2 superoxide dismutase 2 gene DOID:1824 status epilepticus ISO RGD:3732 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hippocampus PMID:25333348|REF_RGD_ID:11035304 11781982 SOD2 superoxide dismutase 2 gene DOID:1909 melanoma ISO RGD:730872 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:8541726|REF_RGD_ID:8547533 11781982 SOD2 superoxide dismutase 2 gene DOID:1936 atherosclerosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12677255|PMID:20720404 11781982 SOD2 superoxide dismutase 2 gene DOID:224 transient cerebral ischemia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11333366 11781982 SOD2 superoxide dismutase 2 gene DOID:224 transient cerebral ischemia treatment ISO RGD:3732 D RGD:9068941 20200609 RGD PMID:30716316|REF_RGD_ID:27095883 11781982 SOD2 superoxide dismutase 2 gene DOID:2316 brain ischemia ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:10212301|REF_RGD_ID:1625695 11781982 SOD2 superoxide dismutase 2 gene DOID:2316 brain ischemia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15060315|PMID:17901229|PMID:19429140 11781982 SOD2 superoxide dismutase 2 gene DOID:2355 anemia ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:8790408|REF_RGD_ID:1581262 11781982 SOD2 superoxide dismutase 2 gene DOID:2355 anemia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20800516 11781982 SOD2 superoxide dismutase 2 gene DOID:2394 ovarian cancer ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:16179351|REF_RGD_ID:1581239 11781982 SOD2 superoxide dismutase 2 gene DOID:2615 papilloma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11507057 11781982 SOD2 superoxide dismutase 2 gene DOID:2738 pseudoxanthoma elasticum onset ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:c.47C>T(rs4880)(human) PMID:17693525|REF_RGD_ID:8547520 11781982 SOD2 superoxide dismutase 2 gene DOID:2741 bilirubin metabolic disorder treatment ISO RGD:730872 D RGD:9068941 20200609 RGD associated with acute lymphoblastic leukemia;DNA:SNP: :(rs4880)(human) PMID:27019981|REF_RGD_ID:11060605 11781982 SOD2 superoxide dismutase 2 gene DOID:2841 asthma ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15743779|REF_RGD_ID:1581231 11781982 SOD2 superoxide dismutase 2 gene DOID:299 adenocarcinoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12907644 11781982 SOD2 superoxide dismutase 2 gene DOID:3008 invasive ductal carcinoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23964924 11781982 SOD2 superoxide dismutase 2 gene DOID:305 carcinoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10853026|PMID:11053990 11781982 SOD2 superoxide dismutase 2 gene DOID:3082 interstitial lung disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10673208 11781982 SOD2 superoxide dismutase 2 gene DOID:326 ischemia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11328670|PMID:18227068 11781982 SOD2 superoxide dismutase 2 gene DOID:331 central nervous system disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10942521 11781982 SOD2 superoxide dismutase 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8866423 11781982 SOD2 superoxide dismutase 2 gene DOID:3407 carotid artery disease ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:12732398|REF_RGD_ID:1580838 11781982 SOD2 superoxide dismutase 2 gene DOID:3429 inclusion body myositis ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:11837748|REF_RGD_ID:1581257 11781982 SOD2 superoxide dismutase 2 gene DOID:3491 Turner syndrome ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 11781982 SOD2 superoxide dismutase 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21940958 11781982 SOD2 superoxide dismutase 2 gene DOID:3613 Canavan disease ISO RGD:11330 D RGD:9068941 20220825 MouseDO OMIM:271900 11781982 SOD2 superoxide dismutase 2 gene DOID:3652 Leigh disease ISO RGD:11330 D RGD:9068941 20220825 MouseDO OMIM:220111 | OMIM:256000 11781982 SOD2 superoxide dismutase 2 gene DOID:3687 MELAS syndrome ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11907800 11781982 SOD2 superoxide dismutase 2 gene DOID:37 skin disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11781982 SOD2 superoxide dismutase 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18167182|PMID:21517111 11781982 SOD2 superoxide dismutase 2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:3732 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:26534761|REF_RGD_ID:11035301 11781982 SOD2 superoxide dismutase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11731445|PMID:17094902 11781982 SOD2 superoxide dismutase 2 gene DOID:3910 lung adenocarcinoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 11781982 SOD2 superoxide dismutase 2 gene DOID:417 autoimmune disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21850155 11781982 SOD2 superoxide dismutase 2 gene DOID:4448 macular degeneration ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:17898259|REF_RGD_ID:8158047 11781982 SOD2 superoxide dismutase 2 gene DOID:4450 renal cell carcinoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 11781982 SOD2 superoxide dismutase 2 gene DOID:4661 multiple chemical sensitivity ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23967348 11781982 SOD2 superoxide dismutase 2 gene DOID:4905 pancreatic carcinoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11328670 11781982 SOD2 superoxide dismutase 2 gene DOID:4914 esophagus adenocarcinoma ISO RGD:3732 D RGD:9068941 20200609 RGD PMID:17785574|REF_RGD_ID:2317403 11781982 SOD2 superoxide dismutase 2 gene DOID:5082 liver cirrhosis ISO RGD:730872 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32659284 11781982 SOD2 superoxide dismutase 2 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.Ala16Val(rs1799725)(human) PMID:19731237|REF_RGD_ID:26923907 11781982 SOD2 superoxide dismutase 2 gene DOID:520 aortic disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 11781982 SOD2 superoxide dismutase 2 gene DOID:5295 intestinal disease treatment ISO RGD:3732 D RGD:9068941 20200609 RGD associated with Shock, Hemorrhagic PMID:26301045|REF_RGD_ID:11035302 11781982 SOD2 superoxide dismutase 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20618948 11781982 SOD2 superoxide dismutase 2 gene DOID:557 kidney disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19917352|PMID:21571061 11781982 SOD2 superoxide dismutase 2 gene DOID:574 peripheral nervous system disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 11781982 SOD2 superoxide dismutase 2 gene DOID:583 hemolytic anemia ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:11304553|REF_RGD_ID:11035277 11781982 SOD2 superoxide dismutase 2 gene DOID:5844 myocardial infarction ISO RGD:3732 D RGD:9068941 20200609 RGD PMID:14575298|PMID:9250167|REF_RGD_ID:1580839|REF_RGD_ID:1581148 11781982 SOD2 superoxide dismutase 2 gene DOID:5844 myocardial infarction ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12160945 11781982 SOD2 superoxide dismutase 2 gene DOID:5844 myocardial infarction ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:2313102|REF_RGD_ID:1580840 11781982 SOD2 superoxide dismutase 2 gene DOID:6000 congestive heart failure ISO RGD:11330 D RGD:9068941 20220825 MouseDO 11781982 SOD2 superoxide dismutase 2 gene DOID:6000 congestive heart failure ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16105639|PMID:16155095|PMID:20304815|PMID:21195081|PMID:21284947 11781982 SOD2 superoxide dismutase 2 gene DOID:6196 reactive arthritis ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:14687717|REF_RGD_ID:1581251 11781982 SOD2 superoxide dismutase 2 gene DOID:630 genetic disease ISO RGD:730872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11781982 SOD2 superoxide dismutase 2 gene DOID:6432 pulmonary hypertension ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20110409 11781982 SOD2 superoxide dismutase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15869407|REF_RGD_ID:1581242 11781982 SOD2 superoxide dismutase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:730872 D RGD:9068941 20200609 RGD protein:increased expression:saliva PMID:31041878|REF_RGD_ID:27095881 11781982 SOD2 superoxide dismutase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:730872 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:16767786|PMID:18760346|PMID:19731237|PMID:21472284|PMID:33010264 11781982 SOD2 superoxide dismutase 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:27221200|REF_RGD_ID:26923955 11781982 SOD2 superoxide dismutase 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD associated with liver cirrhosis; DNA:SNP:cds:p.Ala16Val(rs1799725)(human) PMID:19731237|REF_RGD_ID:26923907 11781982 SOD2 superoxide dismutase 2 gene DOID:700 mitochondrial metabolism disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9917329 11781982 SOD2 superoxide dismutase 2 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:12601034|REF_RGD_ID:8158104 11781982 SOD2 superoxide dismutase 2 gene DOID:705 Leber hereditary optic neuropathy treatment ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15293270|REF_RGD_ID:8158101 11781982 SOD2 superoxide dismutase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524|PMID:15292528|PMID:24313545 11781982 SOD2 superoxide dismutase 2 gene DOID:7693 abdominal aortic aneurysm ISO RGD:3732 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta PMID:17196988|REF_RGD_ID:1625699 11781982 SOD2 superoxide dismutase 2 gene DOID:7693 abdominal aortic aneurysm ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17196988 11781982 SOD2 superoxide dismutase 2 gene DOID:7998 hyperthyroidism ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19914224 11781982 SOD2 superoxide dismutase 2 gene DOID:8398 osteoarthritis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15292528|PMID:18784066|PMID:22108257 11781982 SOD2 superoxide dismutase 2 gene DOID:841 extrinsic allergic alveolitis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10673208 11781982 SOD2 superoxide dismutase 2 gene DOID:850 lung disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8063194 11781982 SOD2 superoxide dismutase 2 gene DOID:8568 infectious mononucleosis ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:7964476|REF_RGD_ID:11035288 11781982 SOD2 superoxide dismutase 2 gene DOID:8646 substance-induced psychosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16807759 11781982 SOD2 superoxide dismutase 2 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 11781982 SOD2 superoxide dismutase 2 gene DOID:8691 mycosis fungoides ISO RGD:730872 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:20833513|REF_RGD_ID:8547521 11781982 SOD2 superoxide dismutase 2 gene DOID:8893 psoriasis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7744320 11781982 SOD2 superoxide dismutase 2 gene DOID:8893 psoriasis ISO RGD:730872 D RGD:9068941 20200609 RGD mRNA:increased expression:skin: PMID:7744320|REF_RGD_ID:8547526 11781982 SOD2 superoxide dismutase 2 gene DOID:8955 sideroblastic anemia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16910769|PMID:21326867 11781982 SOD2 superoxide dismutase 2 gene DOID:9000025 Central Nervous System Infections ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15337840|REF_RGD_ID:1581246 11781982 SOD2 superoxide dismutase 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:3732 D RGD:9068941 20200609 RGD PMID:15454275|REF_RGD_ID:1581234 11781982 SOD2 superoxide dismutase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10853026|PMID:19381893|PMID:20618948 11781982 SOD2 superoxide dismutase 2 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:730872 D RGD:9068941 20200609 RGD associated with tongue neoplasms; PMID:20618948|REF_RGD_ID:8547519 11781982 SOD2 superoxide dismutase 2 gene DOID:9000111 Radiation Injuries ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16540396|PMID:21945096 11781982 SOD2 superoxide dismutase 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11053990|PMID:15986332 11781982 SOD2 superoxide dismutase 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10853026|PMID:14503839|PMID:19424620|PMID:25279216 11781982 SOD2 superoxide dismutase 2 gene DOID:9000307 Presbycusis ISO RGD:3732 D RGD:9068941 20200609 RGD protein:decreased expression,decreased activity:auditory cortex: PMID:24505357|REF_RGD_ID:8158103 11781982 SOD2 superoxide dismutase 2 gene DOID:9000582 Reticulocytosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20800516 11781982 SOD2 superoxide dismutase 2 gene DOID:9000784 Fibrosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19293248 11781982 SOD2 superoxide dismutase 2 gene DOID:9000815 Aortic Calcification ISO RGD:3732 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta PMID:25430697|REF_RGD_ID:11038653 11781982 SOD2 superoxide dismutase 2 gene DOID:9000837 Esophageal Stenosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11121210 11781982 SOD2 superoxide dismutase 2 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11121210|PMID:20726721 11781982 SOD2 superoxide dismutase 2 gene DOID:9000918 Disease Progression ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10673208|PMID:11283936|PMID:16081686|PMID:18930813|PMID:20618948|PMID:21749277|PMID:22547077 11781982 SOD2 superoxide dismutase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12538496|PMID:18930813|PMID:19487542|PMID:22580338 11781982 SOD2 superoxide dismutase 2 gene DOID:9000972 Fever ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11165872 11781982 SOD2 superoxide dismutase 2 gene DOID:9000998 Brain Injuries ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:16248885|REF_RGD_ID:1581214 11781982 SOD2 superoxide dismutase 2 gene DOID:9000998 Brain Injuries ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24462953 11781982 SOD2 superoxide dismutase 2 gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:32236798|REF_RGD_ID:27095880 11781982 SOD2 superoxide dismutase 2 gene DOID:9001312 Tardive Dyskinesia ISO RGD:730872 D RGD:9068941 20200609 RGD associated with schizophrenia PMID:12960753|REF_RGD_ID:1581250 11781982 SOD2 superoxide dismutase 2 gene DOID:9001472 Nasal Polyps ISO RGD:730872 D RGD:9068941 20200609 RGD associated with Rhinosinusitis;mRNA,protein:decreased expression:nasal mucosa: PMID:23921602|REF_RGD_ID:8547534 11781982 SOD2 superoxide dismutase 2 gene DOID:9001542 Albuminuria ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17942768 11781982 SOD2 superoxide dismutase 2 gene DOID:9001607 Hypopharyngeal Neoplasms susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs5746134(human) PMID:21940907|REF_RGD_ID:8158078 11781982 SOD2 superoxide dismutase 2 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 11781982 SOD2 superoxide dismutase 2 gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:3732 D RGD:9068941 20200609 RGD PMID:26073907|REF_RGD_ID:26923954 11781982 SOD2 superoxide dismutase 2 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:3732 D RGD:9068941 20200609 RGD protein:decreased activity:retina: PMID:22240151|REF_RGD_ID:8158043 11781982 SOD2 superoxide dismutase 2 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:22240151|REF_RGD_ID:8158043 11781982 SOD2 superoxide dismutase 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19293248 11781982 SOD2 superoxide dismutase 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:3732 D RGD:9068941 20200609 RGD protein:decreased expression:pulmonary artery PMID:20529999|REF_RGD_ID:27095884 11781982 SOD2 superoxide dismutase 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:730872 D RGD:9068941 20200609 RGD protein:decreased expression:small pulmonary artery PMID:20529999|REF_RGD_ID:27095884 11781982 SOD2 superoxide dismutase 2 gene DOID:9001946 Skin Abnormalities ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24494196 11781982 SOD2 superoxide dismutase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24819633 11781982 SOD2 superoxide dismutase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:17192491|REF_RGD_ID:7175540 11781982 SOD2 superoxide dismutase 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25279216 11781982 SOD2 superoxide dismutase 2 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10673208 11781982 SOD2 superoxide dismutase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12592389|PMID:17465268|PMID:17646272|PMID:18829485|PMID:19074884|PMID:22564066|PMID:23315858|PMID:26468117 11781982 SOD2 superoxide dismutase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15512801|REF_RGD_ID:1581244 11781982 SOD2 superoxide dismutase 2 gene DOID:9002669 Hypoxia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18258771|PMID:19579223 11781982 SOD2 superoxide dismutase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16179351|PMID:18594523 11781982 SOD2 superoxide dismutase 2 gene DOID:9002910 Hearing Loss, Noise-Induced susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.V16A(rs4880)(human) PMID:20534900|REF_RGD_ID:8158046 11781982 SOD2 superoxide dismutase 2 gene DOID:9002910 Hearing Loss, Noise-Induced susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:polymorphisms:intron:IVS3-23T>G, IVS3-60T>G (human) PMID:15345661|REF_RGD_ID:8158044 11781982 SOD2 superoxide dismutase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25279216 11781982 SOD2 superoxide dismutase 2 gene DOID:9002955 Nerve Degeneration ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11146106 11781982 SOD2 superoxide dismutase 2 gene DOID:9003507 Premature Birth ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26055944 11781982 SOD2 superoxide dismutase 2 gene DOID:9003566 Mesothelioma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11283936|PMID:15039138|PMID:17290392|PMID:9533946 11781982 SOD2 superoxide dismutase 2 gene DOID:9003936 Cardiomegaly ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19293248 11781982 SOD2 superoxide dismutase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:3732 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:15612529|REF_RGD_ID:1582141 11781982 SOD2 superoxide dismutase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16682413|PMID:19193722|PMID:19917352|PMID:21940958|PMID:23743330|PMID:8215636 11781982 SOD2 superoxide dismutase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15087276|REF_RGD_ID:1581259 11781982 SOD2 superoxide dismutase 2 gene DOID:9004464 Skin Neoplasms ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:12032821|REF_RGD_ID:8547517 11781982 SOD2 superoxide dismutase 2 gene DOID:9004464 Skin Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11507057|PMID:20454814|PMID:22009531|PMID:25362851 11781982 SOD2 superoxide dismutase 2 gene DOID:9004464 Skin Neoplasms ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15130280|REF_RGD_ID:8547532 11781982 SOD2 superoxide dismutase 2 gene DOID:9004464 Skin Neoplasms disease_progression ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:22009531|REF_RGD_ID:8547525 11781982 SOD2 superoxide dismutase 2 gene DOID:9004484 Sepsis ISO RGD:3732 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:26266917|REF_RGD_ID:11035300 11781982 SOD2 superoxide dismutase 2 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD associated with female breast cancer;DNA:missense mutation:cds:p.V16A (rs4880) (human) PMID:20309628|REF_RGD_ID:11035278 11781982 SOD2 superoxide dismutase 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15887859|REF_RGD_ID:1581241 11781982 SOD2 superoxide dismutase 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10853026|PMID:11053990|PMID:15048980|PMID:15654357|PMID:21749277|PMID:22580338 11781982 SOD2 superoxide dismutase 2 gene DOID:9005036 Bacteremia ISO RGD:11330 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:24253037|REF_RGD_ID:26923958 11781982 SOD2 superoxide dismutase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23964924 11781982 SOD2 superoxide dismutase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3732 D RGD:9068941 20200609 RGD protein:increased activity:testes PMID:19891634|REF_RGD_ID:2317382 11781982 SOD2 superoxide dismutase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15855331|PMID:23090186 11781982 SOD2 superoxide dismutase 2 gene DOID:9005749 Necrosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19293248|PMID:9548797 11781982 SOD2 superoxide dismutase 2 gene DOID:9005873 Tongue Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20618948 11781982 SOD2 superoxide dismutase 2 gene DOID:9005873 Tongue Neoplasms ISO RGD:730872 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:tongue: PMID:20618948|REF_RGD_ID:8547519 11781982 SOD2 superoxide dismutase 2 gene DOID:9005930 Endotoxemia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16741687 11781982 SOD2 superoxide dismutase 2 gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:28875871|REF_RGD_ID:26923956 11781982 SOD2 superoxide dismutase 2 gene DOID:9006924 Cardiogenic Shock ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21062213 11781982 SOD2 superoxide dismutase 2 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:3732 D RGD:9068941 20200609 RGD PMID:11477087|REF_RGD_ID:1625694 11781982 SOD2 superoxide dismutase 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:15681709|REF_RGD_ID:1581233 11781982 SOD2 superoxide dismutase 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11781982 SOD2 superoxide dismutase 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12543247|PMID:15274141 11781982 SOD2 superoxide dismutase 2 gene DOID:9007364 Mouth Neoplasms susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs4342445(human) PMID:21940907|REF_RGD_ID:8158078 11781982 SOD2 superoxide dismutase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11781982 SOD2 superoxide dismutase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:3732 D RGD:9068941 20200609 RGD PMID:19647030|REF_RGD_ID:26923961 11781982 SOD2 superoxide dismutase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:19332662|REF_RGD_ID:26923959 11781982 SOD2 superoxide dismutase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.Val16Ala(human) PMID:20578157|REF_RGD_ID:26923957 11781982 SOD2 superoxide dismutase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:730872 D RGD:9068941 20200609 RGD associated with acute lymphoblastic leukemia;DNA:SNP: :(rs4880)(human) PMID:27019981|REF_RGD_ID:11060605 11781982 SOD2 superoxide dismutase 2 gene DOID:9007480 Hyperoxia ISO RGD:3732 D RGD:9068941 20200609 RGD PMID:2001291|REF_RGD_ID:729952 11781982 SOD2 superoxide dismutase 2 gene DOID:9007502 Brain Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21749277 11781982 SOD2 superoxide dismutase 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20516118|PMID:21742780|PMID:23964924|PMID:25448439|PMID:9067545 11781982 SOD2 superoxide dismutase 2 gene DOID:9007692 Insulin Resistance ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22829583 11781982 SOD2 superoxide dismutase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:11864929|REF_RGD_ID:1581222 11781982 SOD2 superoxide dismutase 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:12668130|REF_RGD_ID:11035287 11781982 SOD2 superoxide dismutase 2 gene DOID:9007964 Arsenic Poisoning ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11781982 SOD2 superoxide dismutase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10853026|PMID:12907644 11781982 SOD2 superoxide dismutase 2 gene DOID:9008443 Colorectal Neoplasms onset ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:11836586|REF_RGD_ID:1581258 11781982 SOD2 superoxide dismutase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17965603|PMID:19385967|PMID:19756960|PMID:20562527 11781982 SOD2 superoxide dismutase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15168344|REF_RGD_ID:1581248 11781982 SOD2 superoxide dismutase 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :1183C>T (human) PMID:14611903|REF_RGD_ID:1581249 11781982 SOD2 superoxide dismutase 2 gene DOID:9119 acute myeloid leukemia ISO RGD:730872 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:1596865|REF_RGD_ID:11035286 11781982 SOD2 superoxide dismutase 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:16769586|REF_RGD_ID:11035289 11781982 SOD2 superoxide dismutase 2 gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:3732 D RGD:9068941 20200609 RGD PMID:24563435|REF_RGD_ID:11035307 11781982 SOD2 superoxide dismutase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15531508 11781982 SOD2 superoxide dismutase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A16V (human) PMID:18423055|REF_RGD_ID:2312364 11781982 SOD2 superoxide dismutase 2 gene DOID:9452 fatty liver disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10860543 11781982 SOD2 superoxide dismutase 2 gene DOID:9538 multiple myeloma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15908783 11781982 SOD2 superoxide dismutase 2 gene DOID:9538 multiple myeloma ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15908783|REF_RGD_ID:1581238 11781982 SOD2 superoxide dismutase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A16V (human) PMID:18423055|REF_RGD_ID:2312364 11781982 SOD2 superoxide dismutase 2 gene DOID:9970 obesity ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16317704|PMID:23956348|PMID:30738174 11781982 SOD2 superoxide dismutase 2 gene DOID:9993 hypoglycemia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20620209 11781993 FAM83D family with sequence similarity 83 member D gene DOID:2234 focal epilepsy ISO RGD:1347604 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11781993 FAM83D family with sequence similarity 83 member D gene DOID:3068 glioblastoma ISO RGD:1347604 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35150198 11781993 FAM83D family with sequence similarity 83 member D gene DOID:630 genetic disease ISO RGD:1347604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11781993 FAM83D family with sequence similarity 83 member D gene DOID:684 hepatocellular carcinoma ISO RGD:1347604 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11782001 MYB MYB proto-oncogene, transcription factor gene DOID:0050523 adult T-cell leukemia/lymphoma disease_progression ISO RGD:1349179 D RGD:9068941 20200609 RGD mRNA:splice variants:CD4+ T cell: PMID:27307595|REF_RGD_ID:11532670 11782001 MYB MYB proto-oncogene, transcription factor gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1349179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749|PMID:26829750 11782001 MYB MYB proto-oncogene, transcription factor gene DOID:0080630 B-lymphoblastic leukemia/lymphoma disease_progression ISO RGD:1349179 D RGD:9068941 20200609 RGD mRNA:splice variants:cds: PMID:21853052|REF_RGD_ID:11532669 11782001 MYB MYB proto-oncogene, transcription factor gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1349179 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 11782001 MYB MYB proto-oncogene, transcription factor gene DOID:2224 essential thrombocythemia ISO RGD:10933 D RGD:9068941 20220825 MouseDO OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521 11782001 MYB MYB proto-oncogene, transcription factor gene DOID:224 transient cerebral ischemia ISO RGD:1560020 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:24828495|REF_RGD_ID:11532683 11782001 MYB MYB proto-oncogene, transcription factor gene DOID:2841 asthma ISO RGD:1349179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19198610 11782001 MYB MYB proto-oncogene, transcription factor gene DOID:3070 high grade glioma ISO RGD:1349179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23583981|PMID:26829751 11782001 MYB MYB proto-oncogene, transcription factor gene DOID:4971 myelofibrosis ISO RGD:10933 D RGD:9068941 20220825 MouseDO OMIM:254450 11782001 MYB MYB proto-oncogene, transcription factor gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1349179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17435759|PMID:28671688 11782001 MYB MYB proto-oncogene, transcription factor gene DOID:630 genetic disease ISO RGD:1349179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782001 MYB MYB proto-oncogene, transcription factor gene DOID:769 neuroblastoma ISO RGD:1349179 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 11782001 MYB MYB proto-oncogene, transcription factor gene DOID:9000918 Disease Progression ISO RGD:1349179 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 11782001 MYB MYB proto-oncogene, transcription factor gene DOID:9002514 Neointima treatment ISO RGD:1560020 D RGD:9068941 20200609 RGD PMID:10438864|REF_RGD_ID:11532744 11782023 MAP3K6 mitogen-activated protein kinase kinase kinase 6 gene DOID:0080600 COVID-19 ISO RGD:1312170 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11782023 MAP3K6 mitogen-activated protein kinase kinase kinase 6 gene DOID:630 genetic disease ISO RGD:1312170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782057 MED19 mediator complex subunit 19 gene DOID:1059 intellectual disability ISO RGD:1344644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11782057 MED19 mediator complex subunit 19 gene DOID:630 genetic disease ISO RGD:1344644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782071 EDDM3A epididymal protein 3A gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1354159 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 11782071 EDDM3A epididymal protein 3A gene DOID:630 genetic disease ISO RGD:1354159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782071 EDDM3A epididymal protein 3A gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1354159 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11782077 LOC100995405 olfactory receptor 1N2 gene DOID:630 genetic disease ISO RGD:1347218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782109 PTOV1 PTOV1 extended AT-hook containing adaptor protein gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1315896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11782109 PTOV1 PTOV1 extended AT-hook containing adaptor protein gene DOID:2843 long QT syndrome ISO RGD:1315896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11782109 PTOV1 PTOV1 extended AT-hook containing adaptor protein gene DOID:630 genetic disease ISO RGD:1315896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782109 PTOV1 PTOV1 extended AT-hook containing adaptor protein gene DOID:9000217 Stomach Neoplasms ISO RGD:1315896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11782109 PTOV1 PTOV1 extended AT-hook containing adaptor protein gene DOID:9000918 Disease Progression ISO RGD:1315896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11782159 DKKL1 dickkopf like acrosomal protein 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1350645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11782159 DKKL1 dickkopf like acrosomal protein 1 gene DOID:630 genetic disease ISO RGD:1350645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782178 ADAM2 ADAM metallopeptidase domain 2 gene DOID:10652 Alzheimer's disease ISO RGD:69085 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:10686596|REF_RGD_ID:10047127 11782178 ADAM2 ADAM metallopeptidase domain 2 gene DOID:630 genetic disease ISO RGD:69085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782178 ADAM2 ADAM metallopeptidase domain 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:69299 D RGD:9068941 20200609 RGD PMID:11967014|REF_RGD_ID:10047130 11782206 PRDX3 peroxiredoxin 3 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1349610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 11782206 PRDX3 peroxiredoxin 3 gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:1349610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia PMID:25741868 11782206 PRDX3 peroxiredoxin 3 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1349610 D RGD:9068941 20220310 CTD CTD Direct Evidence: therapeutic PMID:34678374 11782206 PRDX3 peroxiredoxin 3 gene DOID:0080600 COVID-19 ISO RGD:1349610 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11782206 PRDX3 peroxiredoxin 3 gene DOID:10603 glucose intolerance ISO RGD:620040 D RGD:9068941 20200609 RGD associated with obesity; PMID:27523322|REF_RGD_ID:11532750 11782206 PRDX3 peroxiredoxin 3 gene DOID:11476 osteoporosis ISO RGD:1349610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 11782206 PRDX3 peroxiredoxin 3 gene DOID:231 motor neuron disease ISO RGD:1349610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16702190 11782206 PRDX3 peroxiredoxin 3 gene DOID:630 genetic disease ISO RGD:1349610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782206 PRDX3 peroxiredoxin 3 gene DOID:9000918 Disease Progression ISO RGD:1349610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 11782206 PRDX3 peroxiredoxin 3 gene DOID:9003361 CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET ISO RGD:1349610 D RGD:7240710 20220615 OMIM 11782206 PRDX3 peroxiredoxin 3 gene DOID:9003361 CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET ISO RGD:1349610 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, punctiform and polychromatic pre-Descemet PMID:31782998|PMID:34369396 11782206 PRDX3 peroxiredoxin 3 gene DOID:9003435 Autosomal Recessive Spinocerebellar Ataxia 32 ISO RGD:1349610 D RGD:7240710 20220518 OMIM 11782206 PRDX3 peroxiredoxin 3 gene DOID:9003435 Autosomal Recessive Spinocerebellar Ataxia 32 ISO RGD:1349610 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 32 PMID:25741868|PMID:33889951|PMID:35766882|PMID:35792670 11782206 PRDX3 peroxiredoxin 3 gene DOID:9007692 Insulin Resistance ISO RGD:620040 D RGD:9068941 20200609 RGD associated with obesity; PMID:27523322|REF_RGD_ID:11532750 11782217 TMEM25 transmembrane protein 25 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1350182 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11782217 TMEM25 transmembrane protein 25 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1350182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11782217 TMEM25 transmembrane protein 25 gene DOID:0080690 RASopathy ISO RGD:1350182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11782217 TMEM25 transmembrane protein 25 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1350182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 11782217 TMEM25 transmembrane protein 25 gene DOID:0110651 long QT syndrome 10 ISO RGD:1350182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11782217 TMEM25 transmembrane protein 25 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1350182 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11782217 TMEM25 transmembrane protein 25 gene DOID:0111971 immunodeficiency 18 ISO RGD:1350182 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11782217 TMEM25 transmembrane protein 25 gene DOID:0111972 immunodeficiency 19 ISO RGD:1350182 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11782217 TMEM25 transmembrane protein 25 gene DOID:0111973 immunodeficiency 17 ISO RGD:1350182 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11782217 TMEM25 transmembrane protein 25 gene DOID:630 genetic disease ISO RGD:1350182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782217 TMEM25 transmembrane protein 25 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1350182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11782217 TMEM25 transmembrane protein 25 gene DOID:9007661 Dwarfism ISO RGD:1350182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11782217 TMEM25 transmembrane protein 25 gene DOID:9008939 Breast Neoplasms ISO RGD:1350182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19776672 11782260 ASPRV1 aspartic peptidase retroviral like 1 gene DOID:10283 prostate cancer ISO RGD:1604987 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11782260 ASPRV1 aspartic peptidase retroviral like 1 gene DOID:1697 ichthyosis ISO RGD:12276125 D RGD:9068941 20230427 OMIA Ichthyosis, ASPRV1-related PMID:28249031|PMID:34796560 11782260 ASPRV1 aspartic peptidase retroviral like 1 gene DOID:630 genetic disease ISO RGD:1604987 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782260 ASPRV1 aspartic peptidase retroviral like 1 gene DOID:9003075 Lamellar Ichthyosis, Autosomal Dominant Form ISO RGD:1604987 D RGD:7240710 20230420 OMIM 11782260 ASPRV1 aspartic peptidase retroviral like 1 gene DOID:9003075 Lamellar Ichthyosis, Autosomal Dominant Form ISO RGD:1604987 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autosomal dominant lamellar ichthyosis PMID:32516568|PMID:6499258 11782311 GOLGA7 golgin A7 gene DOID:630 genetic disease ISO RGD:1351077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782332 GEMIN2 gem nuclear organelle associated protein 2 gene DOID:630 genetic disease ISO RGD:1351557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782332 GEMIN2 gem nuclear organelle associated protein 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1351557 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11782346 PBOV1 prostate and breast cancer overexpressed 1 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1346457 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 11782346 PBOV1 prostate and breast cancer overexpressed 1 gene DOID:630 genetic disease ISO RGD:1346457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782349 LOC100970249 serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit beta gene DOID:12849 autistic disorder ISO RGD:1604626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11782350 DUSP26 dual specificity phosphatase 26 gene DOID:630 genetic disease ISO RGD:1604602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782360 RPS6KA1 ribosomal protein S6 kinase A1 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:732451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29109170 11782360 RPS6KA1 ribosomal protein S6 kinase A1 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:732451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 11782360 RPS6KA1 ribosomal protein S6 kinase A1 gene DOID:630 genetic disease ISO RGD:732451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782360 RPS6KA1 ribosomal protein S6 kinase A1 gene DOID:8541 Sezary's disease ISO RGD:732451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551670 11782395 AVPR2 arginine vasopressin receptor 2 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:730975 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11782395 AVPR2 arginine vasopressin receptor 2 gene DOID:0050476 Barth syndrome ISO RGD:730975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11782395 AVPR2 arginine vasopressin receptor 2 gene DOID:0050700 cardiomyopathy ISO RGD:730975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12145768 11782395 AVPR2 arginine vasopressin receptor 2 gene DOID:0050735 X-linked monogenic disease ISO RGD:730975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19703807 11782395 AVPR2 arginine vasopressin receptor 2 gene DOID:0050800 creatine transporter deficiency ISO RGD:730975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 11782395 AVPR2 arginine vasopressin receptor 2 gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:730975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17218722 11782395 AVPR2 arginine vasopressin receptor 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:730975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 11782395 AVPR2 arginine vasopressin receptor 2 gene DOID:0081060 X-linked nephrogenic diabetes insipidus ISO RGD:730975 D RGD:7240710 20210630 OMIM 11782395 AVPR2 arginine vasopressin receptor 2 gene DOID:0081060 X-linked nephrogenic diabetes insipidus ISO RGD:730975 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diabetes insipidus, nephrogenic, X-linked PMID:10026829|PMID:10526945|PMID:10770218|PMID:10820167|PMID:10820168|PMID:11095010|PMID:11128419|PMID:11134505|PMID:11232028|PMID:11754100|PMID:11916004|PMID:11920339|PMID:12955588|PMID:1303257|PMID:1303271|PMID:1356229|PMID:15166253|PMID:15522100|PMID:15841479|PMID:15872203|PMID:16319185|PMID:16580609|PMID:16825342|PMID:16843086|PMID:16845277|PMID:17216256|PMID:17491025|PMID:18726898|PMID:19179480|PMID:19587238|PMID:20403097|PMID:22144672|PMID:22644838|PMID:23762448|PMID:24033266|PMID:25324589|PMID:25741868|PMID:26467025|PMID:27355191|PMID:27884173|PMID:28492532|PMID:29398133|PMID:29546600|PMID:29594432|PMID:30976394|PMID:32073219|PMID:32903920|PMID:32939031|PMID:33532864|PMID:33996673|PMID:34101133|PMID:4886456|PMID:5309332|PMID:7714087|PMID:7833930|PMID:7913579|PMID:7920187|PMID:7984150|PMID:7987330|PMID:7989330|PMID:8037205|PMID:8078903|PMID:8104196|PMID:8267567|PMID:8401502|PMID:8479490|PMID:8479491|PMID:8704106|PMID:8766931|PMID:8999963|PMID:9027323|PMID:9171234|PMID:9329382|PMID:9369448|PMID:9402087|PMID:9452109|PMID:9587067|PMID:9711877|PMID:9853256 11782395 AVPR2 arginine vasopressin receptor 2 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:730975 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 11782395 AVPR2 arginine vasopressin receptor 2 gene DOID:0112003 immunodeficiency 33 ISO RGD:730975 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11782395 AVPR2 arginine vasopressin receptor 2 gene DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis ISO RGD:730975 D RGD:7240710 20180130 OMIM 11782395 AVPR2 arginine vasopressin receptor 2 gene DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis ISO RGD:730975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrogenic syndrome of inappropriate antidiuresis PMID:10820168|PMID:11095010|PMID:11134505|PMID:11232028|PMID:11754100|PMID:11916004|PMID:11920339|PMID:1303257|PMID:15166253|PMID:15872203|PMID:16319185|PMID:16580609|PMID:16825342|PMID:16843086|PMID:16845277|PMID:17229917|PMID:19179480|PMID:20159941|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27117808|PMID:27355191|PMID:28492532|PMID:29398133|PMID:29546600|PMID:33996673|PMID:7920187|PMID:7984150|PMID:8037205|PMID:8104196|PMID:8999963|PMID:9452109|PMID:9711877 11782395 AVPR2 arginine vasopressin receptor 2 gene DOID:10588 adrenoleukodystrophy ISO RGD:730975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11782395 AVPR2 arginine vasopressin receptor 2 gene DOID:10763 hypertension severity ISO RGD:2186 D RGD:9068941 20200609 RGD PMID:12072411|REF_RGD_ID:1298694 11782395 AVPR2 arginine vasopressin receptor 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:730975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11782395 AVPR2 arginine vasopressin receptor 2 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:730975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrogenic diabetes insipidus PMID:10026829|PMID:10714359|PMID:10749568|PMID:10770218|PMID:10820168|PMID:10918636|PMID:11095010|PMID:11128419|PMID:11134505|PMID:11232028|PMID:11754100|PMID:11916004|PMID:11920339|PMID:1303257|PMID:1303271|PMID:15166253|PMID:15522100|PMID:15841479|PMID:15872203|PMID:16319185|PMID:16502494|PMID:16580609|PMID:16689923|PMID:16825342|PMID:16843086|PMID:16845277|PMID:17216256|PMID:17491025|PMID:18407239|PMID:18726898|PMID:19179480|PMID:19729439|PMID:19812297|PMID:25741868|PMID:26467025|PMID:29398133|PMID:29546600|PMID:33996673|PMID:7541187|PMID:7833930|PMID:7913579|PMID:7920187|PMID:7933835|PMID:7984150|PMID:8037205|PMID:8104196|PMID:8401502|PMID:8704106|PMID:8766931|PMID:8815789|PMID:8999963|PMID:9402087|PMID:9452109|PMID:9711877|PMID:9773787 11782395 AVPR2 arginine vasopressin receptor 2 gene DOID:12849 autistic disorder ISO RGD:730975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11782395 AVPR2 arginine vasopressin receptor 2 gene DOID:13628 favism ISO RGD:730975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11782395 AVPR2 arginine vasopressin receptor 2 gene DOID:2729 dyskeratosis congenita ISO RGD:730975 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11782395 AVPR2 arginine vasopressin receptor 2 gene DOID:5199 ureteral obstruction ISO RGD:2186 D RGD:9068941 20200609 RGD PMID:18971210|REF_RGD_ID:2312654 11782395 AVPR2 arginine vasopressin receptor 2 gene DOID:6000 congestive heart failure ISO RGD:730975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12145768 11782395 AVPR2 arginine vasopressin receptor 2 gene DOID:607 paraplegia ISO RGD:730975 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11782395 AVPR2 arginine vasopressin receptor 2 gene DOID:630 genetic disease ISO RGD:730975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10820167|PMID:10820168|PMID:1303257|PMID:18726898|PMID:25741868|PMID:25937802|PMID:26077742|PMID:28492532 11782395 AVPR2 arginine vasopressin receptor 2 gene DOID:9002720 Splenomegaly ISO RGD:730975 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11782395 AVPR2 arginine vasopressin receptor 2 gene DOID:9006257 Growth Disorders ISO RGD:730975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19703807 11782395 AVPR2 arginine vasopressin receptor 2 gene DOID:9008760 Oliguria ISO RGD:730975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7977526 11782408 PTCD3 pentatricopeptide repeat domain 3 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1605991 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 11782408 PTCD3 pentatricopeptide repeat domain 3 gene DOID:0112137 combined oxidative phosphorylation deficiency 51 ISO RGD:1605991 D RGD:7240710 20201111 OMIM 11782408 PTCD3 pentatricopeptide repeat domain 3 gene DOID:0112137 combined oxidative phosphorylation deficiency 51 ISO RGD:1605991 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 51 PMID:25741868|PMID:30607703 11782408 PTCD3 pentatricopeptide repeat domain 3 gene DOID:630 genetic disease ISO RGD:1605991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782408 PTCD3 pentatricopeptide repeat domain 3 gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1605991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 11782436 DOHH deoxyhypusine hydroxylase gene DOID:630 genetic disease ISO RGD:1606491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782436 DOHH deoxyhypusine hydroxylase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11782436 DOHH deoxyhypusine hydroxylase gene DOID:9004467 Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment ISO RGD:1606491 D RGD:7240710 20221123 OMIM 11782436 DOHH deoxyhypusine hydroxylase gene DOID:9004467 Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment ISO RGD:1606491 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment PMID:25741868|PMID:35858628 11782446 PSME2 proteasome activator subunit 2 gene DOID:0060439 lysinuric protein intolerance ISO RGD:733724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11782446 PSME2 proteasome activator subunit 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:733724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 11782446 PSME2 proteasome activator subunit 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:733724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11782446 PSME2 proteasome activator subunit 2 gene DOID:630 genetic disease ISO RGD:733724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782446 PSME2 proteasome activator subunit 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:733724 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11782446 PSME2 proteasome activator subunit 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11782446 PSME2 proteasome activator subunit 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:733724 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11782461 CD53 CD53 molecule gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:737207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11782461 CD53 CD53 molecule gene DOID:12849 autistic disorder ISO RGD:737207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11782461 CD53 CD53 molecule gene DOID:630 genetic disease ISO RGD:737207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782461 CD53 CD53 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11782461 CD53 CD53 molecule gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:737207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 11782474 KRT7 keratin 7 gene DOID:12236 primary biliary cholangitis ISO RGD:1322014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21681009 11782474 KRT7 keratin 7 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1322015 D RGD:9068941 20200625 RGD protein:increased expression:lung (mouse) PMID:23919993|REF_RGD_ID:30310231 11782474 KRT7 keratin 7 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1322014 D RGD:9068941 20200609 RGD PMID:19260470|REF_RGD_ID:2317307 11782474 KRT7 keratin 7 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1322014 D RGD:9068941 20220331 RGD PMID:29788741|REF_RGD_ID:151665759 11782474 KRT7 keratin 7 gene DOID:4450 renal cell carcinoma ISO RGD:1322014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329|PMID:16927643 11782474 KRT7 keratin 7 gene DOID:4947 cholangiocarcinoma ISO RGD:1322014 D RGD:9068941 20200609 RGD PMID:18393293|REF_RGD_ID:2317308 11782474 KRT7 keratin 7 gene DOID:5389 oxyphilic adenoma ISO RGD:1322014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16927643 11782474 KRT7 keratin 7 gene DOID:630 genetic disease ISO RGD:1322014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782474 KRT7 keratin 7 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1322014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19921857 11782474 KRT7 keratin 7 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1310865 D RGD:9068941 20200609 RGD PMID:8570173|REF_RGD_ID:2317439 11782474 KRT7 keratin 7 gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:1322014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 11782474 KRT7 keratin 7 gene DOID:9008510 Chronic Hepatitis ISO RGD:1322014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 11782496 ABCF3 ATP binding cassette subfamily F member 3 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1321386 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11782496 ABCF3 ATP binding cassette subfamily F member 3 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1321386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11782496 ABCF3 ATP binding cassette subfamily F member 3 gene DOID:0111546 Currarino syndrome ISO RGD:1321386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11782496 ABCF3 ATP binding cassette subfamily F member 3 gene DOID:10283 prostate cancer ISO RGD:1321386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11782496 ABCF3 ATP binding cassette subfamily F member 3 gene DOID:630 genetic disease ISO RGD:1321386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782521 HRH4 histamine receptor H4 gene DOID:0080600 COVID-19 ISO RGD:735405 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11782521 HRH4 histamine receptor H4 gene DOID:1059 intellectual disability ISO RGD:735405 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11782521 HRH4 histamine receptor H4 gene DOID:299 adenocarcinoma ISO RGD:735405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363581 11782521 HRH4 histamine receptor H4 gene DOID:630 genetic disease ISO RGD:735405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782521 HRH4 histamine receptor H4 gene DOID:9000217 Stomach Neoplasms ISO RGD:735405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363581 11782521 HRH4 histamine receptor H4 gene DOID:9006202 Pruritus ISO RGD:735405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19652466 11782542 RPLP1 ribosomal protein lateral stalk subunit P1 gene DOID:2717 Bloom syndrome ISO RGD:736952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11782542 RPLP1 ribosomal protein lateral stalk subunit P1 gene DOID:630 genetic disease ISO RGD:736952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782542 RPLP1 ribosomal protein lateral stalk subunit P1 gene DOID:9256 colorectal cancer ISO RGD:736952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11782551 RTN3 reticulon 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1349287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11782551 RTN3 reticulon 3 gene DOID:1059 intellectual disability ISO RGD:1349287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11782551 RTN3 reticulon 3 gene DOID:630 genetic disease ISO RGD:1349287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782568 PPP1R14D protein phosphatase 1 regulatory inhibitor subunit 14D gene DOID:2717 Bloom syndrome ISO RGD:1350290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11782568 PPP1R14D protein phosphatase 1 regulatory inhibitor subunit 14D gene DOID:630 genetic disease ISO RGD:1350290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782568 PPP1R14D protein phosphatase 1 regulatory inhibitor subunit 14D gene DOID:9256 colorectal cancer ISO RGD:1350290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11782577 MPG N-methylpurine DNA glycosylase gene DOID:630 genetic disease ISO RGD:731894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782585 CAMK2G calcium/calmodulin dependent protein kinase II gamma gene DOID:1059 intellectual disability ISO RGD:1604851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23033978|PMID:25741868|PMID:30184290 11782585 CAMK2G calcium/calmodulin dependent protein kinase II gamma gene DOID:12849 autistic disorder ISO RGD:1604851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:23033978|PMID:25741868|PMID:30184290 11782585 CAMK2G calcium/calmodulin dependent protein kinase II gamma gene DOID:3069 malignant astrocytoma disease_progression ISO RGD:1604851 D RGD:9068941 20200609 RGD PMID:12937144|REF_RGD_ID:13702480 11782585 CAMK2G calcium/calmodulin dependent protein kinase II gamma gene DOID:630 genetic disease ISO RGD:1604851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782585 CAMK2G calcium/calmodulin dependent protein kinase II gamma gene DOID:9005810 Autosomal Dominant Intellectual Developmental Disorder 59 ISO RGD:1604851 D RGD:7240710 20200129 OMIM 11782585 CAMK2G calcium/calmodulin dependent protein kinase II gamma gene DOID:9005810 Autosomal Dominant Intellectual Developmental Disorder 59 ISO RGD:1604851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder 59 PMID:23033978|PMID:25741868|PMID:30184290 11782666 ZACN zinc activated ion channel gene DOID:630 genetic disease ISO RGD:1604695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782666 ZACN zinc activated ion channel gene DOID:9009012 NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY ISO RGD:1604695 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and brain atrophy 11782680 PTPDC1 protein tyrosine phosphatase domain containing 1 gene DOID:12642 hiatus hernia ISO RGD:1317037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hiatus hernia 11782680 PTPDC1 protein tyrosine phosphatase domain containing 1 gene DOID:630 genetic disease ISO RGD:1317037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782731 SGK3 serum/glucocorticoid regulated kinase family member 3 gene DOID:10283 prostate cancer ISO RGD:1354188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11782731 SGK3 serum/glucocorticoid regulated kinase family member 3 gene DOID:4535 hypotrichosis ISO RGD:12199930 D RGD:9068941 20210604 OMIA Hypotrichosis, recessive PMID:27994129|PMID:30927068|PMID:31727632|PMID:3367039 11782731 SGK3 serum/glucocorticoid regulated kinase family member 3 gene DOID:630 genetic disease ISO RGD:1354188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782758 LRRN1 leucine rich repeat neuronal 1 gene DOID:10534 stomach cancer severity ISO RGD:1345511 D RGD:9068941 20220616 RGD mRNA:altered expression:stomach tumor (human) PMID:28035468|REF_RGD_ID:152995287 11782758 LRRN1 leucine rich repeat neuronal 1 gene DOID:630 genetic disease ISO RGD:1345511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782758 LRRN1 leucine rich repeat neuronal 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11782771 FAM229A family with sequence similarity 229 member A gene DOID:630 genetic disease ISO RGD:7204883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782778 MRPL13 mitochondrial ribosomal protein L13 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1351918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11782778 MRPL13 mitochondrial ribosomal protein L13 gene DOID:1749 squamous cell carcinoma ISO RGD:1351918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 11782778 MRPL13 mitochondrial ribosomal protein L13 gene DOID:630 genetic disease ISO RGD:1351918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782778 MRPL13 mitochondrial ribosomal protein L13 gene DOID:9000217 Stomach Neoplasms ISO RGD:1351918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11782778 MRPL13 mitochondrial ribosomal protein L13 gene DOID:9000918 Disease Progression ISO RGD:1351918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11782778 MRPL13 mitochondrial ribosomal protein L13 gene DOID:9007364 Mouth Neoplasms ISO RGD:1351918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 11782778 MRPL13 mitochondrial ribosomal protein L13 gene DOID:9008939 Breast Neoplasms ISO RGD:1351918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 11782789 DAO D-amino acid oxidase gene DOID:12849 autistic disorder ISO RGD:1350103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17629951 11782789 DAO D-amino acid oxidase gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1350103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 11782789 DAO D-amino acid oxidase gene DOID:5419 schizophrenia ISO RGD:1350103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 11782789 DAO D-amino acid oxidase gene DOID:5419 schizophrenia susceptibility ISO RGD:1350103 D RGD:9068941 20200806 RGD DNA:SNPs: : PMID:14966479|REF_RGD_ID:1358627 11782789 DAO D-amino acid oxidase gene DOID:630 genetic disease ISO RGD:1350103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782789 DAO D-amino acid oxidase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11782807 APOBEC3F apolipoprotein B mRNA editing enzyme catalytic subunit 3F gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1345786 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11782807 APOBEC3F apolipoprotein B mRNA editing enzyme catalytic subunit 3F gene DOID:630 genetic disease ISO RGD:1345786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782809 THNSL1 threonine synthase like 1 gene DOID:630 genetic disease ISO RGD:1343746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782836 LOC100992052 keratin-associated protein 22-2 gene DOID:630 genetic disease ISO RGD:2311721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782841 UROC1 urocanate hydratase 1 gene DOID:0112180 urocanase deficiency ISO RGD:1347314 D RGD:7240710 20180130 OMIM 11782841 UROC1 urocanate hydratase 1 gene DOID:0112180 urocanase deficiency ISO RGD:1347314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Urocanate hydratase deficiency PMID:18414213|PMID:19304569|PMID:25741868|PMID:28492532 11782841 UROC1 urocanate hydratase 1 gene DOID:1059 intellectual disability ISO RGD:1347314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19304569 11782841 UROC1 urocanate hydratase 1 gene DOID:630 genetic disease ISO RGD:1347314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782841 UROC1 urocanate hydratase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1347314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11782841 UROC1 urocanate hydratase 1 gene DOID:9004866 Ataxia ISO RGD:1347314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19304569 11782841 UROC1 urocanate hydratase 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 11782841 UROC1 urocanate hydratase 1 gene DOID:9270 alkaptonuria ISO RGD:1347314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11782870 PEAR1 platelet endothelial aggregation receptor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1642918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11782870 PEAR1 platelet endothelial aggregation receptor 1 gene DOID:630 genetic disease ISO RGD:1642918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782870 PEAR1 platelet endothelial aggregation receptor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1642918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11782897 CLUH clustered mitochondria homolog gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1601881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome PMID:25741868 11782897 CLUH clustered mitochondria homolog gene DOID:10487 Hirschsprung's disease ISO RGD:1601881 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 11782897 CLUH clustered mitochondria homolog gene DOID:630 genetic disease ISO RGD:1601881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782953 PTGES3L prostaglandin E synthase 3 like gene DOID:630 genetic disease ISO RGD:6483690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782982 FHIP2B FHF complex subunit HOOK interacting protein 2B gene DOID:630 genetic disease ISO RGD:1318892 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11782982 FHIP2B FHF complex subunit HOOK interacting protein 2B gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1318892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 11783009 ALYREF Aly/REF export factor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1322669 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11783009 ALYREF Aly/REF export factor gene DOID:630 genetic disease ISO RGD:1322669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783021 C5H5orf34 chromosome 5 C5orf34 homolog gene DOID:630 genetic disease ISO RGD:1601916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783021 C5H5orf34 chromosome 5 C5orf34 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11783044 ALX3 ALX homeobox 3 gene DOID:0080074 neural tube defect ISO RGD:1352384 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:20534379 11783044 ALX3 ALX homeobox 3 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1352384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 11783044 ALX3 ALX homeobox 3 gene DOID:0081044 frontonasal dysplasia ISO RGD:1352384 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Frontorhiny PMID:17963218|PMID:19409524|PMID:25741868 11783044 ALX3 ALX homeobox 3 gene DOID:0081045 frontonasal dysplasia 1 ISO RGD:1352384 D RGD:7240710 20180130 OMIM 11783044 ALX3 ALX homeobox 3 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1352384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11783044 ALX3 ALX homeobox 3 gene DOID:12849 autistic disorder ISO RGD:1352384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11783044 ALX3 ALX homeobox 3 gene DOID:630 genetic disease ISO RGD:1352384 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11783052 POGK pogo transposable element derived with KRAB domain gene DOID:1540 parathyroid carcinoma ISO RGD:1319023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11783052 POGK pogo transposable element derived with KRAB domain gene DOID:630 genetic disease ISO RGD:1319023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783052 POGK pogo transposable element derived with KRAB domain gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11783071 MRPS33 mitochondrial ribosomal protein S33 gene DOID:0080690 RASopathy ISO RGD:1319435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 11783071 MRPS33 mitochondrial ribosomal protein S33 gene DOID:3312 bipolar disorder ISO RGD:1319435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 11783071 MRPS33 mitochondrial ribosomal protein S33 gene DOID:630 genetic disease ISO RGD:1319435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783090 ASB13 ankyrin repeat and SOCS box containing 13 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1321264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11783090 ASB13 ankyrin repeat and SOCS box containing 13 gene DOID:5419 schizophrenia ISO RGD:1321264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11783090 ASB13 ankyrin repeat and SOCS box containing 13 gene DOID:630 genetic disease ISO RGD:1321264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783099 AVEN apoptosis and caspase activation inhibitor gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1320536 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868|PMID:28492532 11783099 AVEN apoptosis and caspase activation inhibitor gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1320536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 11783099 AVEN apoptosis and caspase activation inhibitor gene DOID:13938 amenorrhea ISO RGD:1320536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11783099 AVEN apoptosis and caspase activation inhibitor gene DOID:1826 epilepsy ISO RGD:1320536 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11783099 AVEN apoptosis and caspase activation inhibitor gene DOID:2717 Bloom syndrome ISO RGD:1320536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11783099 AVEN apoptosis and caspase activation inhibitor gene DOID:3908 lung non-small cell carcinoma ISO RGD:1320536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 11783099 AVEN apoptosis and caspase activation inhibitor gene DOID:630 genetic disease ISO RGD:1320536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11783099 AVEN apoptosis and caspase activation inhibitor gene DOID:9001793 Generalized Epilepsy ISO RGD:1320536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:17576681|PMID:25262651|PMID:25741868|PMID:28492532|PMID:9536098 11783099 AVEN apoptosis and caspase activation inhibitor gene DOID:9256 colorectal cancer ISO RGD:1320536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11783109 CNTD1 cyclin N-terminal domain containing 1 gene DOID:630 genetic disease ISO RGD:1603365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783126 LOC100974054 olfactory receptor 4D11 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1351925 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11783126 LOC100974054 olfactory receptor 4D11 gene DOID:1059 intellectual disability ISO RGD:1351925 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Intellectual disability 11783126 LOC100974054 olfactory receptor 4D11 gene DOID:630 genetic disease ISO RGD:1351925 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783129 ZNF845 zinc finger protein 845 gene DOID:630 genetic disease ISO RGD:2298741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783138 TIFAB TIFA inhibitor gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:2291818 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11783138 TIFAB TIFA inhibitor gene DOID:630 genetic disease ISO RGD:2291818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783138 TIFAB TIFA inhibitor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2291818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11783138 TIFAB TIFA inhibitor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:2291818 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11783144 IL17D interleukin 17D gene DOID:0081312 T-cell non-Hodgkin lymphoma severity ISO RGD:1558575 D RGD:9068941 20210108 RGD PMID:31244826|REF_RGD_ID:40903065 11783144 IL17D interleukin 17D gene DOID:0110253 cataract 14 multiple types ISO RGD:1348652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types PMID:28492532 11783144 IL17D interleukin 17D gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1348652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:28492532 11783144 IL17D interleukin 17D gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1348652 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:28492532 11783144 IL17D interleukin 17D gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:1348652 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:28492532 11783144 IL17D interleukin 17D gene DOID:11573 listeriosis severity ISO RGD:1558575 D RGD:9068941 20210108 RGD PMID:31244826|REF_RGD_ID:40903065 11783144 IL17D interleukin 17D gene DOID:14693 Clouston syndrome ISO RGD:1348652 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia PMID:28492532 11783144 IL17D interleukin 17D gene DOID:1909 melanoma severity ISO RGD:1558575 D RGD:9068941 20210108 RGD PMID:31244826|REF_RGD_ID:40903065 11783144 IL17D interleukin 17D gene DOID:2121 ectodermal dysplasia ISO RGD:1348652 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 11783144 IL17D interleukin 17D gene DOID:2280 hidradenitis suppurativa sexual_dimorphism ISO RGD:1348652 D RGD:9068941 20210625 RGD mRNA:increased expression:apocrine gland (human) PMID:32031713|REF_RGD_ID:40903066 11783144 IL17D interleukin 17D gene DOID:526 human immunodeficiency virus infectious disease severity ISO RGD:1348652 D RGD:9068941 20210108 RGD Protein:increased expression:blood plasma (human) PMID:28592538|REF_RGD_ID:40903074 11783144 IL17D interleukin 17D gene DOID:630 genetic disease ISO RGD:1348652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783144 IL17D interleukin 17D gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:1348652 D RGD:9068941 20210108 RGD associated with human immunodeficiency virus infectious disease;mRNA:increased expression:blood plasma (human) PMID:27875997|REF_RGD_ID:40903073 11783144 IL17D interleukin 17D gene DOID:9004484 Sepsis severity ISO RGD:1558575 D RGD:9068941 20210108 RGD PMID:31634237|REF_RGD_ID:40903064 11783144 IL17D interleukin 17D gene DOID:9004484 Sepsis treatment ISO RGD:1348652 D RGD:9068941 20210108 RGD protein:increased expression:blood serum (human) PMID:31634237|REF_RGD_ID:40903064 11783144 IL17D interleukin 17D gene DOID:9004484 Sepsis treatment ISO RGD:1558575 D RGD:9068941 20210108 RGD PMID:31634237|REF_RGD_ID:40903064 11783144 IL17D interleukin 17D gene DOID:9006262 Cytomegalovirus Infections severity ISO RGD:1558575 D RGD:9068941 20210108 RGD PMID:30209334|REF_RGD_ID:40903063 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:0050424 familial adenomatous polyposis severity ISO RGD:14209790 D RGD:9068941 20211126 RGD DNA:SNPs,haplotype:promoter:multiple (pig) PMID:32717306|REF_RGD_ID:150524307 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:0070004 myeloid neoplasm ISO RGD:737004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myeloproliferative disorder PMID:18971950 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:0080006 bone development disease ISO RGD:2425 D RGD:9068941 20210416 RGD PMID:30249809|REF_RGD_ID:41404725 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:0080199 colorectal carcinoma ISO RGD:737004 D RGD:9068941 20220929 RGD mRNA:decreased expression:colorectal mucosa (human) PMID:28675510|REF_RGD_ID:150524297 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:737004 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ISO RGD:737004 D RGD:7240710 20180130 OMIM 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ISO RGD:737004 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids | ClinVar Annotator: match by term: Leukoencephalopathy, diffuse hereditary, with spheroids 1 PMID:16523341|PMID:19153373|PMID:22197934|PMID:22503135|PMID:22934315|PMID:23038421|PMID:23408870|PMID:23411710|PMID:23649896|PMID:23816250|PMID:24034409|PMID:24088041|PMID:24094860|PMID:24120500|PMID:24145216|PMID:24198292|PMID:24336230|PMID:24532199|PMID:2470618|PMID:25012610|PMID:25311247|PMID:25563800|PMID:25741868|PMID:25863088|PMID:26141177|PMID:26141825|PMID:26633545|PMID:27619214|PMID:27680516|PMID:28492532|PMID:28824062|PMID:28843019|PMID:29389947|PMID:29544907|PMID:30268725|PMID:30279455|PMID:30528841|PMID:30661751|PMID:30982609|PMID:31705326|PMID:32055602|PMID:34652888|PMID:8614507 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:0080855 Parkinsonism ISO RGD:737004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinsonism PMID:25741868 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:10534 stomach cancer exacerbates ISO RGD:737004 D RGD:9068941 20211126 RGD mRNA:increased expression:stomach (human) PMID:29767252|REF_RGD_ID:150524281 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:10652 Alzheimer's disease ISO RGD:737004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:30279455 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:13139 crescentic glomerulonephritis treatment ISO RGD:2425 D RGD:9068941 20220407 RGD PMID:23408165|REF_RGD_ID:151665815 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:1324 lung cancer exacerbates ISO RGD:737004 D RGD:9068941 20211126 RGD protein:increased expression:lung (human) PMID:29323162|REF_RGD_ID:150524284 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:1324 lung cancer susceptibility ISO RGD:737004 D RGD:9068941 20211126 RGD DNA:missense mutation:CDS:p.H362R (rs10079250) (human) PMID:25144241|REF_RGD_ID:150524283 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:14566 disease of cellular proliferation ISO RGD:737004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:2406720|PMID:25157968 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:1612 breast cancer disease_progression ISO RGD:737004 D RGD:9068941 20200609 RGD PMID:14734466|REF_RGD_ID:2293711 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:1612 breast cancer treatment ISO RGD:10412 D RGD:9068941 20211126 RGD PMID:25385645|REF_RGD_ID:150524304 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:10412 D RGD:9068941 20211126 RGD mouse cell line in a mouse model PMID:24898549|PMID:29436396|REF_RGD_ID:150524289|REF_RGD_ID:150524303 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:737004 D RGD:9068941 20211126 RGD human cells in a mouse model PMID:32304779|REF_RGD_ID:150524290 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:3021 acute kidney failure ISO RGD:10412 D RGD:9068941 20200609 RGD PMID:23143303|REF_RGD_ID:7257565 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:3744 cervical squamous cell carcinoma ISO RGD:737004 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:18565574|REF_RGD_ID:2299119 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737004 D RGD:9068941 20211126 RGD mRNA:decreased expression:esophagus squamous epithelium (human) PMID:32038997|REF_RGD_ID:150524298 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:3907 lung squamous cell carcinoma ISO RGD:737004 D RGD:9068941 20211126 RGD protein:increased expression:lung (human) PMID:23702648|REF_RGD_ID:150524280 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:737004 D RGD:9068941 20211126 RGD mRNA,protein:increased expression:lung (human) PMID:33428598|REF_RGD_ID:150524295 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:737004 D RGD:9068941 20211126 RGD mRNA:decreased expression:lung (human) PMID:24451080|REF_RGD_ID:150524294 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:737004 D RGD:9068941 20211126 RGD human cells in a mouse model PMID:27486763|REF_RGD_ID:150524288 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:737004 D RGD:9068941 20211126 RGD DNA:missense mutation:CDS:p.H362R (rs10079250) (human) PMID:28449811|REF_RGD_ID:150524292 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:3910 lung adenocarcinoma ISO RGD:737004 D RGD:9068941 20211126 RGD protein:increased expression:lung (human) PMID:23702648|REF_RGD_ID:150524280 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:4450 renal cell carcinoma ISO RGD:737004 D RGD:9068941 20200609 RGD PMID:22052465|REF_RGD_ID:7257566 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:4450 renal cell carcinoma ISO RGD:737004 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:18592004|REF_RGD_ID:2299092 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:4450 renal cell carcinoma treatment ISO RGD:10412 D RGD:9068941 20211126 RGD mouse cell line in a mouse model PMID:32302573|REF_RGD_ID:150524293 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:4780 anti-basement membrane glomerulonephritis ameliorates ISO RGD:2425 D RGD:9068941 20220407 RGD PMID:21519331|REF_RGD_ID:151665824 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:4780 anti-basement membrane glomerulonephritis treatment ISO RGD:2425 D RGD:9068941 20200609 RGD PMID:19242505|REF_RGD_ID:7257569 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:5082 liver cirrhosis exacerbates ISO RGD:737004 D RGD:9068941 20211126 RGD associated with hepatitis C, liver cirrhosis;protein:increased expression:serum (human) PMID:26437001|REF_RGD_ID:11079330 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:5199 ureteral obstruction ISO RGD:10412 D RGD:9068941 20200609 RGD protein:increased expression:kidney, macrophage PMID:16951369|REF_RGD_ID:7257574 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:5223 infertility ISO RGD:2425 D RGD:9068941 20210416 RGD PMID:30249809|REF_RGD_ID:41404725 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:5409 lung small cell carcinoma exacerbates ISO RGD:737004 D RGD:9068941 20211126 RGD protein:increased expression:lung (human) PMID:1390197|REF_RGD_ID:150524305 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:614 lymphopenia ISO RGD:2425 D RGD:9068941 20210416 RGD PMID:30249809|REF_RGD_ID:41404725 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:630 genetic disease ISO RGD:737004 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24120500|PMID:24145216|PMID:24336230|PMID:25741868|PMID:28492532|PMID:30982609 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:684 hepatocellular carcinoma ISO RGD:737004 D RGD:9068941 20211126 RGD protein:increased expression: liver (human) PMID:32760707|REF_RGD_ID:150524286 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:684 hepatocellular carcinoma ISO RGD:737004 D RGD:9068941 20211126 RGD protein:increased expression:liver (human) PMID:14969845|REF_RGD_ID:150524302 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:737004 D RGD:9068941 20211126 RGD DNA:hypomethylation PMID:11412385|REF_RGD_ID:150524301 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:737004 D RGD:9068941 20211126 RGD mRNA:increased expression:liver (human) PMID:20551429|REF_RGD_ID:150524279 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:684 hepatocellular carcinoma severity ISO RGD:737004 D RGD:9068941 20211126 RGD DNA:hypomethylation:promoter (human) PMID:32724427|REF_RGD_ID:150524282 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:7474 malignant pleural mesothelioma ISO RGD:737004 D RGD:9068941 20211126 RGD mRNA:increased expression:peritoneum�� (human) PMID:24722292|REF_RGD_ID:150524278 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:8634 prostate carcinoma in situ ISO RGD:737004 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:12381783|REF_RGD_ID:2293712 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:737004 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:18565574|REF_RGD_ID:2299119 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:9000081 Lymphatic Metastasis ISO RGD:737004 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:14734466|REF_RGD_ID:2293711 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:9000099 Experimental Colitis ameliorates ISO RGD:10412 D RGD:9068941 20211126 RGD PMID:23451116|REF_RGD_ID:150524300 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:737004 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1390197 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:737004 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:18510570|REF_RGD_ID:2293638 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:9000965 Neoplasm Metastasis exacerbates ISO RGD:10412 D RGD:9068941 20211126 RGD associated with breast cancer PMID:25005824|REF_RGD_ID:150524287 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737004 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:2425 D RGD:9068941 20220331 RGD mRNA,protein:increased expression:kidney (rat) PMID:32141565|REF_RGD_ID:151665767 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:10412 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:19466391|REF_RGD_ID:2311340 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:737004 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:12381783|REF_RGD_ID:2293712 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:9002438 Foreign-Body Reaction ISO RGD:2425 D RGD:9068941 20220331 RGD PMID:33841088|REF_RGD_ID:151665762 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2425 D RGD:9068941 20220407 RGD PMID:18434589|REF_RGD_ID:151665814 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:9002704 Leukoencephalopathies ISO RGD:737004 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22197934 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2425 D RGD:9068941 20220331 RGD protein:increased expression:right cerebral hemisphere, astrocyte, neuron (rat) PMID:33101590|REF_RGD_ID:151665766 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:9003676 Brain Hypoxia-Ischemia exacerbates ISO RGD:2425 D RGD:9068941 20220331 RGD PMID:32522286|REF_RGD_ID:151665765 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:9003690 Carcinoma, Lewis Lung ameliorates ISO RGD:10412 D RGD:9068941 20211126 RGD mouse cell line in a mouse model PMID:20008303|REF_RGD_ID:150524291 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:9004283 Transplant Rejection ISO RGD:2425 D RGD:9068941 20220407 RGD PMID:24056626|REF_RGD_ID:151665812 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2425 D RGD:9068941 20220407 RGD mRNA,protein:increased expression:retina (rat) PMID:19219684|REF_RGD_ID:151665779 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:9005822 BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS ISO RGD:737004 D RGD:7240710 20190807 OMIM 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:9005822 BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS ISO RGD:737004 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brain abnormalities, neurodegeneration, and dysosteosclerosis PMID:22503135|PMID:23408870|PMID:24120500|PMID:24145216|PMID:24336230|PMID:25563800|PMID:25741868|PMID:28492532|PMID:30982608|PMID:30982609|PMID:32055602|PMID:8614507 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:9006182 Carotid Artery Injuries ISO RGD:2425 D RGD:9068941 20220407 RGD mRNA, protein:increased expression: carotid artery endothelium (rat) PMID:27135205|REF_RGD_ID:151665776 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10412 D RGD:9068941 20200609 RGD PMID:23143303|REF_RGD_ID:7257565 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:9006532 Hematologic Neoplasms ISO RGD:737004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hematologic neoplasm PMID:18971950|PMID:2406720|PMID:25157968 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737004 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:9008091 Optic Nerve Injuries ISO RGD:2425 D RGD:9068941 20220407 RGD mRNA:increased expression:retina (rat) PMID:20187850|REF_RGD_ID:151665810 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:9008939 Breast Neoplasms ISO RGD:737004 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16618760 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:9119 acute myeloid leukemia ISO RGD:737004 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1390197 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731382 D RGD:9068941 20211126 RGD DNA:mutation:exon 9: (human) PMID:21171987|REF_RGD_ID:149735515 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:9255 frontotemporal dementia ISO RGD:737004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:25741868 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:9256 colorectal cancer exacerbates ISO RGD:737004 D RGD:9068941 20211126 RGD protein:decreased expression:colorectum (human) PMID:32118593|REF_RGD_ID:150524285 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:9261 nasopharynx carcinoma treatment ISO RGD:737004 D RGD:9068941 20211126 RGD PMID:22267178|REF_RGD_ID:150524299 11783153 CSF1R colony stimulating factor 1 receptor gene DOID:9351 diabetes mellitus ISO RGD:737004 D RGD:9068941 20211126 RGD associated with hepatocellular��carcinoma;DNA:hypermethylation:promoter (human) PMID:32724427|REF_RGD_ID:150524282 11783178 CHI3L2 chitinase 3 like 2 gene DOID:12849 autistic disorder ISO RGD:1350449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11783178 CHI3L2 chitinase 3 like 2 gene DOID:630 genetic disease ISO RGD:1350449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783198 GFI1B growth factor independent 1B transcriptional repressor gene DOID:0070004 myeloid neoplasm ISO RGD:1323334 D RGD:9068941 20200609 RGD mRNA:increased expression:blood: PMID:19360458|REF_RGD_ID:11040460 11783198 GFI1B growth factor independent 1B transcriptional repressor gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1323334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11783198 GFI1B growth factor independent 1B transcriptional repressor gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1323334 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:25741868|PMID:28492532 11783198 GFI1B growth factor independent 1B transcriptional repressor gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1323334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11783198 GFI1B growth factor independent 1B transcriptional repressor gene DOID:0081097 Rafiq syndrome ISO RGD:1323334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11783198 GFI1B growth factor independent 1B transcriptional repressor gene DOID:0111044 gray platelet syndrome ISO RGD:1323334 D RGD:9068941 20200609 RGD DNA:nonsense mutation:c.859C>T, p.Gln287X(human) PMID:24325358|REF_RGD_ID:11040508 11783198 GFI1B growth factor independent 1B transcriptional repressor gene DOID:0111049 platelet-type bleeding disorder 17 ISO RGD:1323334 D RGD:7240710 20190320 OMIM 11783198 GFI1B growth factor independent 1B transcriptional repressor gene DOID:0111049 platelet-type bleeding disorder 17 ISO RGD:1323334 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Platelet-type bleeding disorder 17 PMID:1065298|PMID:23927492|PMID:24325358|PMID:25741868|PMID:28041820|PMID:30573501|PMID:31064749|PMID:34355501|PMID:5681484 11783198 GFI1B growth factor independent 1B transcriptional repressor gene DOID:12449 aplastic anemia ISO RGD:1323334 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone marrow cell: PMID:17156408|REF_RGD_ID:11040507 11783198 GFI1B growth factor independent 1B transcriptional repressor gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1323334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11783198 GFI1B growth factor independent 1B transcriptional repressor gene DOID:1588 thrombocytopenia ISO RGD:1323334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:31064749 11783198 GFI1B growth factor independent 1B transcriptional repressor gene DOID:2213 hemorrhagic disease ISO RGD:1323334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 11783198 GFI1B growth factor independent 1B transcriptional repressor gene DOID:2223 platelet storage pool deficiency ISO RGD:1323334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Storage pool disease of platelets PMID:25741868 11783198 GFI1B growth factor independent 1B transcriptional repressor gene DOID:3652 Leigh disease ISO RGD:1323334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11783198 GFI1B growth factor independent 1B transcriptional repressor gene DOID:630 genetic disease ISO RGD:1323334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783198 GFI1B growth factor independent 1B transcriptional repressor gene DOID:8761 acute megakaryocytic leukemia ISO RGD:1323334 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow cell: PMID:17156408|REF_RGD_ID:11040507 11783198 GFI1B growth factor independent 1B transcriptional repressor gene DOID:9000647 Acute Erythroleukemia ISO RGD:1323334 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow cell: PMID:17156408|REF_RGD_ID:11040507 11783198 GFI1B growth factor independent 1B transcriptional repressor gene DOID:9002867 Myeloid Leukemia, Chronic-Phase ISO RGD:1323334 D RGD:9068941 20200609 RGD mRNA:increased expression:blood: PMID:19360458|REF_RGD_ID:11040460 11783198 GFI1B growth factor independent 1B transcriptional repressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323334 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 11783198 GFI1B growth factor independent 1B transcriptional repressor gene DOID:9119 acute myeloid leukemia ISO RGD:1323334 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow cell: PMID:17156408|REF_RGD_ID:11040507 11783198 GFI1B growth factor independent 1B transcriptional repressor gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1323334 D RGD:9068941 20200609 RGD mRNA:increased expression:blood: PMID:19360458|REF_RGD_ID:11040460 11783218 SETD3 SET domain containing 3, actin histidine methyltransferase gene DOID:630 genetic disease ISO RGD:1319950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783255 CNOT8 CCR4-NOT transcription complex subunit 8 gene DOID:630 genetic disease ISO RGD:1314995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783294 PLXNB1 plexin B1 gene DOID:630 genetic disease ISO RGD:1321541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11783294 PLXNB1 plexin B1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1321541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11783294 PLXNB1 plexin B1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321541 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 11783351 OMD osteomodulin gene DOID:0050548 hereditary sensory neuropathy ISO RGD:736115 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 11783351 OMD osteomodulin gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:736115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 11783351 OMD osteomodulin gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:736115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 11783351 OMD osteomodulin gene DOID:630 genetic disease ISO RGD:736115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783358 NAT14 N-acetyltransferase 14 (putative) gene DOID:630 genetic disease ISO RGD:1601749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783365 IGFL4 IGF like family member 4 gene DOID:630 genetic disease ISO RGD:1606353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783378 ANKRD39 ankyrin repeat domain 39 gene DOID:1059 intellectual disability ISO RGD:1602717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11783378 ANKRD39 ankyrin repeat domain 39 gene DOID:5419 schizophrenia ISO RGD:1602717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11783378 ANKRD39 ankyrin repeat domain 39 gene DOID:630 genetic disease ISO RGD:1602717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783388 LGALS8 galectin 8 gene DOID:1540 parathyroid carcinoma ISO RGD:1354427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11783388 LGALS8 galectin 8 gene DOID:630 genetic disease ISO RGD:1354427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783388 LGALS8 galectin 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11783415 LOC100984974 cytochrome b-c1 complex subunit 6, mitochondrial gene DOID:630 genetic disease ISO RGD:1314343 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783415 LOC100984974 cytochrome b-c1 complex subunit 6, mitochondrial gene DOID:9006123 Mitochondrial Complex III Deficiency Nuclear Type 11 ISO RGD:1314343 D RGD:7240710 20221214 OMIM 11783415 LOC100984974 cytochrome b-c1 complex subunit 6, mitochondrial gene DOID:9006123 Mitochondrial Complex III Deficiency Nuclear Type 11 ISO RGD:1314343 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency, nuclear type 11 PMID:34750991 11783427 MBOAT2 membrane bound O-acyltransferase domain containing 2 gene DOID:630 genetic disease ISO RGD:1314050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783427 MBOAT2 membrane bound O-acyltransferase domain containing 2 gene DOID:9005369 Hepatomegaly ISO RGD:1314050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 11783458 VASH1 vasohibin 1 gene DOID:1059 intellectual disability ISO RGD:1352548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11783458 VASH1 vasohibin 1 gene DOID:10762 portal hypertension disease_progression ISO RGD:1564082 D RGD:9068941 20200609 RGD PMID:24390792|REF_RGD_ID:15003198 11783458 VASH1 vasohibin 1 gene DOID:10762 portal hypertension treatment ISO RGD:1352548 D RGD:9068941 20200609 RGD PMID:24390792|REF_RGD_ID:15003198 11783458 VASH1 vasohibin 1 gene DOID:5082 liver cirrhosis ISO RGD:1352548 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic; protein:increased expression:liver PMID:24390792|REF_RGD_ID:15003198 11783458 VASH1 vasohibin 1 gene DOID:5082 liver cirrhosis treatment ISO RGD:1352548 D RGD:9068941 20200609 RGD PMID:24390792|REF_RGD_ID:15003198 11783458 VASH1 vasohibin 1 gene DOID:630 genetic disease ISO RGD:1352548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783469 GANAB glucosidase II alpha subunit gene DOID:0050770 polycystic liver disease ISO RGD:1320293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:25741868|PMID:28492532|PMID:33097077 11783469 GANAB glucosidase II alpha subunit gene DOID:0080322 polycystic kidney disease ISO RGD:1320293 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:27259053|REF_RGD_ID:11352639 11783469 GANAB glucosidase II alpha subunit gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1320293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:28492532 11783469 GANAB glucosidase II alpha subunit gene DOID:0110860 polycystic kidney disease 3 ISO RGD:1320293 D RGD:7240710 20190315 OMIM 11783469 GANAB glucosidase II alpha subunit gene DOID:0110860 polycystic kidney disease 3 ISO RGD:1320293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 3 PMID:25741868|PMID:27259053|PMID:28492532|PMID:33097077 11783469 GANAB glucosidase II alpha subunit gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1320293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11783469 GANAB glucosidase II alpha subunit gene DOID:1059 intellectual disability ISO RGD:1320293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11783469 GANAB glucosidase II alpha subunit gene DOID:630 genetic disease ISO RGD:1320293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11783469 GANAB glucosidase II alpha subunit gene DOID:784 chronic kidney disease ISO RGD:1320293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 11783469 GANAB glucosidase II alpha subunit gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1320293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease 11783469 GANAB glucosidase II alpha subunit gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1320293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Isolated polycystic liver disease PMID:25741868|PMID:28492532|PMID:33097077 11783469 GANAB glucosidase II alpha subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1320293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11783500 SEC24D SEC24 homolog D, COPII coat complex component gene DOID:0060438 Cole-Carpenter syndrome ISO RGD:1323325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11783500 SEC24D SEC24 homolog D, COPII coat complex component gene DOID:1826 epilepsy ISO RGD:1323325 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25558065 11783500 SEC24D SEC24 homolog D, COPII coat complex component gene DOID:630 genetic disease ISO RGD:1323325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11783500 SEC24D SEC24 homolog D, COPII coat complex component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11783500 SEC24D SEC24 homolog D, COPII coat complex component gene DOID:9004736 Cole-Carpenter Syndrome 2 ISO RGD:1323325 D RGD:7240710 20180130 OMIM 11783500 SEC24D SEC24 homolog D, COPII coat complex component gene DOID:9004736 Cole-Carpenter Syndrome 2 ISO RGD:1323325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cole-Carpenter syndrome 2 PMID:25683121|PMID:25741868|PMID:26467156|PMID:27942778|PMID:28492532|PMID:30462379 11783543 FAM43B family with sequence similarity 43 member B gene DOID:0060369 Parkinson's disease 6 ISO RGD:1346194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11783543 FAM43B family with sequence similarity 43 member B gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1346194 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11783543 FAM43B family with sequence similarity 43 member B gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1346194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11783543 FAM43B family with sequence similarity 43 member B gene DOID:630 genetic disease ISO RGD:1346194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783543 FAM43B family with sequence similarity 43 member B gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1346194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11783556 LRRC4B leucine rich repeat containing 4B gene DOID:630 genetic disease ISO RGD:1316128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783573 MPO myeloperoxidase gene DOID:0050777 Joubert syndrome ISO RGD:1346384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11783573 MPO myeloperoxidase gene DOID:0060071 pre-malignant neoplasm ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14580687 11783573 MPO myeloperoxidase gene DOID:0060180 colitis ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23810507 11783573 MPO myeloperoxidase gene DOID:0080162 lupus nephritis susceptibility ISO RGD:1346384 D RGD:9068941 20200609 RGD DNA:polymorphism: :−463G > A (human) PMID:17896805|REF_RGD_ID:7174701 11783573 MPO myeloperoxidase gene DOID:0080348 Alzheimer's disease 1 susceptibility ISO RGD:1346384 D RGD:7240710 20230517 OMIM 11783573 MPO myeloperoxidase gene DOID:0081292 traumatic brain injury ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25668593 11783573 MPO myeloperoxidase gene DOID:10247 pleurisy ISO RGD:10916 D RGD:9068941 20200609 RGD protein:increased activity:lung PMID:11577999|REF_RGD_ID:5130991 11783573 MPO myeloperoxidase gene DOID:1059 intellectual disability ISO RGD:1346384 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11783573 MPO myeloperoxidase gene DOID:10652 Alzheimer's disease ISO RGD:1346384 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer disease, susceptibility to PMID:11087769|PMID:12915675|PMID:15023809|PMID:15108282|PMID:17304047|PMID:24033266|PMID:25741868|PMID:26764160|PMID:26822949|PMID:30487145|PMID:31980526|PMID:32531373|PMID:32758447|PMID:32758448|PMID:34426522|PMID:6260268|PMID:9766845 11783573 MPO myeloperoxidase gene DOID:11054 urinary bladder cancer ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14729580 11783573 MPO myeloperoxidase gene DOID:1252 trichuriasis ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864659 11783573 MPO myeloperoxidase gene DOID:1287 cardiovascular system disease ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19326902 11783573 MPO myeloperoxidase gene DOID:1287 cardiovascular system disease ISO RGD:1346384 D RGD:9068941 20200609 RGD associated with Kidney Failure, chronic; DNA:SNP: :-463G>A (human) PMID:12694338|REF_RGD_ID:6909169 11783573 MPO myeloperoxidase gene DOID:1324 lung cancer ISO RGD:1346384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung cancer, protection against, in smokers PMID:11087769|PMID:12915675|PMID:15023809|PMID:17304047 11783573 MPO myeloperoxidase gene DOID:13619 extrahepatic cholestasis ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 11783573 MPO myeloperoxidase gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19731237|PMID:23274713 11783573 MPO myeloperoxidase gene DOID:1470 major depressive disorder ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20471444 11783573 MPO myeloperoxidase gene DOID:1485 cystic fibrosis ISO RGD:1346384 D RGD:9068941 20200609 RGD PMID:20954832|REF_RGD_ID:5130986 11783573 MPO myeloperoxidase gene DOID:1485 cystic fibrosis severity ISO RGD:1346384 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-463G>A (human) PMID:16883063|REF_RGD_ID:5130968 11783573 MPO myeloperoxidase gene DOID:1555 urticaria ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18204966 11783573 MPO myeloperoxidase gene DOID:1591 renovascular hypertension ISO RGD:1592081 D RGD:9068941 20200609 RGD protein:increased activity:heart, brain, kidney PMID:19549002|REF_RGD_ID:7174698 11783573 MPO myeloperoxidase gene DOID:161 keratosis ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14580687 11783573 MPO myeloperoxidase gene DOID:161 keratosis susceptibility ISO RGD:1346384 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-463G>T(rs2333227)(human) PMID:14580687|REF_RGD_ID:9479152 11783573 MPO myeloperoxidase gene DOID:1679 cystitis ISO RGD:1592081 D RGD:9068941 20200609 RGD protein:increased activity:bladder PMID:19418724|REF_RGD_ID:7174704 11783573 MPO myeloperoxidase gene DOID:1793 pancreatic cancer resistance ISO RGD:1346384 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-463G>A (human) PMID:18205184|REF_RGD_ID:2317406 11783573 MPO myeloperoxidase gene DOID:1936 atherosclerosis ISO RGD:1346384 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33861588 11783573 MPO myeloperoxidase gene DOID:2316 brain ischemia ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19417757 11783573 MPO myeloperoxidase gene DOID:2841 asthma ISO RGD:1346384 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:10731862|REF_RGD_ID:5130994 11783573 MPO myeloperoxidase gene DOID:2841 asthma susceptibility ISO RGD:1346384 D RGD:9068941 20200609 RGD DNA:polymorphism: :−463G > A (human) PMID:19544176|REF_RGD_ID:5130989 11783573 MPO myeloperoxidase gene DOID:2921 glomerulonephritis ISO RGD:10916 D RGD:9068941 20200609 RGD PMID:17267745|REF_RGD_ID:7174702 11783573 MPO myeloperoxidase gene DOID:2921 glomerulonephritis disease_progression ISO RGD:1346384 D RGD:9068941 20200609 RGD PMID:19238910|REF_RGD_ID:7174705 11783573 MPO myeloperoxidase gene DOID:3021 acute kidney failure ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 11783573 MPO myeloperoxidase gene DOID:3021 acute kidney failure ISO RGD:1346384 D RGD:9068941 20200609 RGD DNA:haplotye: : PMID:22739978|REF_RGD_ID:6909168 11783573 MPO myeloperoxidase gene DOID:3021 acute kidney failure ISO RGD:1592081 D RGD:9068941 20200609 RGD PMID:19793022|REF_RGD_ID:6909185 11783573 MPO myeloperoxidase gene DOID:3082 interstitial lung disease ISO RGD:1346384 D RGD:9068941 20200609 RGD associated with Sclerodema, systemic; protein:increased expression:bronchoalveolar lavage fluid PMID:17643278|REF_RGD_ID:5130207 11783573 MPO myeloperoxidase gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1592081 D RGD:9068941 20200609 RGD protein:increased activity:plasma PMID:19491038|REF_RGD_ID:5130997 11783573 MPO myeloperoxidase gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1346384 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:10917466|REF_RGD_ID:5130993 11783573 MPO myeloperoxidase gene DOID:4989 pancreatitis ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16440434 11783573 MPO myeloperoxidase gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1346384 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-463G>A( rs2333227)(human) PMID:19731237|REF_RGD_ID:26923907 11783573 MPO myeloperoxidase gene DOID:557 kidney disease ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19913069 11783573 MPO myeloperoxidase gene DOID:630 genetic disease ISO RGD:1346384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783573 MPO myeloperoxidase gene DOID:684 hepatocellular carcinoma ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19731237 11783573 MPO myeloperoxidase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1346384 D RGD:9068941 20200609 RGD associated with liver cirrhosis with Hepatitis C;DNA:SNP:promoter:-463G>A(human) PMID:21907168|REF_RGD_ID:27095879 11783573 MPO myeloperoxidase gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1346384 D RGD:9068941 20200609 RGD associated with liver cirrhosis; DNA:SNP:promoter:-463G>A( rs2333227)(human) PMID:19731237|REF_RGD_ID:26923907 11783573 MPO myeloperoxidase gene DOID:7148 rheumatoid arthritis ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22450443|PMID:26001728 11783573 MPO myeloperoxidase gene DOID:783 end stage renal disease disease_progression ISO RGD:1346384 D RGD:9068941 20200609 RGD PMID:20638167|REF_RGD_ID:6909184 11783573 MPO myeloperoxidase gene DOID:850 lung disease ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23451061 11783573 MPO myeloperoxidase gene DOID:850 lung disease ISO RGD:1346384 D RGD:9068941 20200609 RGD acute lung injury PMID:19483113|REF_RGD_ID:5130962 11783573 MPO myeloperoxidase gene DOID:8577 ulcerative colitis ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20380826|PMID:22119283|PMID:24055189 11783573 MPO myeloperoxidase gene DOID:865 vasculitis ISO RGD:1346384 D RGD:9068941 20200609 RGD microscopic polyangiitis PMID:21071471|REF_RGD_ID:5130969 11783573 MPO myeloperoxidase gene DOID:874 bacterial pneumonia ISO RGD:1346384 D RGD:9068941 20200609 RGD protein:increased activity:bronchoalveolar lavage Fluid: PMID:11269653|REF_RGD_ID:5130992 11783573 MPO myeloperoxidase gene DOID:9000039 Spinal Cord Injuries ISO RGD:1592081 D RGD:9068941 20200609 RGD protein:increased activity:spinal cord PMID:22986158|REF_RGD_ID:6909148 11783573 MPO myeloperoxidase gene DOID:9000099 Experimental Colitis treatment ISO RGD:1592081 D RGD:9068941 20220623 RGD PMID:29572553|REF_RGD_ID:152995414 11783573 MPO myeloperoxidase gene DOID:9000998 Brain Injuries ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 11783573 MPO myeloperoxidase gene DOID:9001600 Wounds and Injuries ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 11783573 MPO myeloperoxidase gene DOID:9001708 Hemorrhagic Shock ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 11783573 MPO myeloperoxidase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21716162 11783573 MPO myeloperoxidase gene DOID:9002315 Kidney Calculi ISO RGD:1346384 D RGD:9068941 20200609 RGD protein:increased activity:blood PMID:18022927|REF_RGD_ID:7174700 11783573 MPO myeloperoxidase gene DOID:9002457 Experimental Arthritis ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22450443 11783573 MPO myeloperoxidase gene DOID:9002575 Myeloperoxidase Deficiency ISO RGD:1346384 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myeloperoxidase deficiency PMID:14980716|PMID:15108282|PMID:17017121|PMID:17384005|PMID:17650507|PMID:18273043|PMID:24033266|PMID:25741868|PMID:26764160|PMID:26822949|PMID:27013444|PMID:28492532|PMID:30487145|PMID:31589614|PMID:31980526|PMID:32531373|PMID:32758447|PMID:32758448|PMID:33531667|PMID:34426522|PMID:6260268|PMID:7904599|PMID:8142659|PMID:8621627|PMID:9354683|PMID:9468285|PMID:9507022|PMID:9637725|PMID:9766845 11783573 MPO myeloperoxidase gene DOID:9002575 Myeloperoxidase Deficiency susceptibility ISO RGD:1346384 D RGD:7240710 20230517 OMIM 11783573 MPO myeloperoxidase gene DOID:9002669 Hypoxia ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8552434 11783573 MPO myeloperoxidase gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1592081 D RGD:9068941 20220616 RGD protein:increased activity:brain: PMID:25720338|REF_RGD_ID:152995398 11783573 MPO myeloperoxidase gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis disease_progression ISO RGD:1346384 D RGD:9068941 20200609 RGD PMID:23085883|REF_RGD_ID:7174703 11783573 MPO myeloperoxidase gene DOID:9004009 Reperfusion Injury ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10706834|PMID:12024109|PMID:16971220|PMID:19058328|PMID:20863214|PMID:8869312 11783573 MPO myeloperoxidase gene DOID:9004009 Reperfusion Injury ISO RGD:1592081 D RGD:9068941 20200609 RGD protein:increased activity:lung PMID:21470877|REF_RGD_ID:5130958 11783573 MPO myeloperoxidase gene DOID:9004484 Sepsis ISO RGD:10916 D RGD:9068941 20200609 RGD PMID:18424617|REF_RGD_ID:5130966 11783573 MPO myeloperoxidase gene DOID:9004610 Acute Lung Injury ISO RGD:10916 D RGD:9068941 20200609 RGD associated with Kidney Reperfusion Injury; protein:increased activity:lung PMID:22092133|REF_RGD_ID:6909173 11783573 MPO myeloperoxidase gene DOID:9005172 Lung Neoplasms ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12111688 11783573 MPO myeloperoxidase gene DOID:9005236 Drug Eruptions ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18204966 11783573 MPO myeloperoxidase gene DOID:9005254 Systemic Candidiasis severity ISO RGD:10916 D RGD:9068941 20210108 RGD PMID:12085336|REF_RGD_ID:40903072 11783573 MPO myeloperoxidase gene DOID:9005372 Inflammation ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10407471|PMID:19066340|PMID:19326902|PMID:23371441|PMID:23451061 11783573 MPO myeloperoxidase gene DOID:9005463 Occupational Diseases ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15576619 11783573 MPO myeloperoxidase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20388520 11783573 MPO myeloperoxidase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1592081 D RGD:9068941 20200609 RGD protein:increased activity:liver: PMID:18436980|REF_RGD_ID:2317971 11783573 MPO myeloperoxidase gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:1592081 D RGD:9068941 20200609 RGD PMID:20722568|REF_RGD_ID:6909183 11783573 MPO myeloperoxidase gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10916 D RGD:9068941 20200609 RGD PMID:18055546|REF_RGD_ID:7174699 11783573 MPO myeloperoxidase gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1592081 D RGD:9068941 20200609 RGD protein:increased activity:kidney PMID:22950848|REF_RGD_ID:6909167 11783573 MPO myeloperoxidase gene DOID:9006928 Viral Bronchiolitis ISO RGD:1346384 D RGD:9068941 20200609 RGD PMID:7841728|REF_RGD_ID:5130995 11783573 MPO myeloperoxidase gene DOID:9007102 Myocardial Ischemia ISO RGD:1346384 D RGD:9068941 20200609 RGD Acute Coronary Syndrome; protein:increased expression:plasma PMID:21226709|REF_RGD_ID:5130961 11783573 MPO myeloperoxidase gene DOID:9007156 Enteritis ISO RGD:1592081 D RGD:9068941 20200609 RGD protein:increased activity:intestine mucosa PMID:20950601|REF_RGD_ID:6909182 11783573 MPO myeloperoxidase gene DOID:9007651 Chronic Bronchitis ISO RGD:1592081 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11798689|REF_RGD_ID:5130990 11783573 MPO myeloperoxidase gene DOID:9007730 Burns ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11996850 11783573 MPO myeloperoxidase gene DOID:9007730 Burns ISO RGD:1592081 D RGD:9068941 20200609 RGD protein:increased activity:kidney, lung PMID:22356815|REF_RGD_ID:6909170 11783573 MPO myeloperoxidase gene DOID:936 brain disease ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23593274 11783573 MPO myeloperoxidase gene DOID:9362 status asthmaticus ISO RGD:1346384 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:10731862|REF_RGD_ID:5130994 11783594 RCAN3 RCAN family member 3 gene DOID:630 genetic disease ISO RGD:1323485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783616 GNPAT glyceronephosphate O-acyltransferase gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:733936 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 11783616 GNPAT glyceronephosphate O-acyltransferase gene DOID:0110852 rhizomelic chondrodysplasia punctata type 2 ISO RGD:733936 D RGD:7240710 20180130 OMIM 11783616 GNPAT glyceronephosphate O-acyltransferase gene DOID:0110852 rhizomelic chondrodysplasia punctata type 2 ISO RGD:733936 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 2 PMID:10972423|PMID:11152660|PMID:1152660|PMID:1405476|PMID:21990100|PMID:24033266|PMID:25741868|PMID:28492532|PMID:34229749|PMID:7530787|PMID:9536089|PMID:9843043 11783616 GNPAT glyceronephosphate O-acyltransferase gene DOID:0111675 neurooculocardiogenitourinary syndrome ISO RGD:733936 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurooculocardiogenitourinary syndrome PMID:25741868 11783616 GNPAT glyceronephosphate O-acyltransferase gene DOID:10283 prostate cancer ISO RGD:733936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11783616 GNPAT glyceronephosphate O-acyltransferase gene DOID:150 disease of mental health ISO RGD:733937 D RGD:9068941 20220825 MouseDO 11783616 GNPAT glyceronephosphate O-acyltransferase gene DOID:1540 parathyroid carcinoma ISO RGD:733936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11783616 GNPAT glyceronephosphate O-acyltransferase gene DOID:2580 rhizomelic chondrodysplasia punctata ISO RGD:733936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata PMID:25741868|PMID:28492532 11783616 GNPAT glyceronephosphate O-acyltransferase gene DOID:630 genetic disease ISO RGD:733936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11783616 GNPAT glyceronephosphate O-acyltransferase gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:733936 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 11783616 GNPAT glyceronephosphate O-acyltransferase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11783636 FOLR3 folate receptor gamma gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1346148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 11783636 FOLR3 folate receptor gamma gene DOID:0080600 COVID-19 ISO RGD:1346148 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 11783636 FOLR3 folate receptor gamma gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1346148 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11783636 FOLR3 folate receptor gamma gene DOID:1059 intellectual disability ISO RGD:1346148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:0002116 pterygium susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.S326C (1245C>G, rs1052133) (human) PMID:14716324|REF_RGD_ID:8657375 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1353911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:0060058 lymphoma ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17441966 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:10283 prostate cancer susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.S326C (human) PMID:24649009|REF_RGD_ID:8657136 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:10283 prostate cancer susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.S326C (1245C>G) (rs1052133) (human) PMID:19914098|REF_RGD_ID:8657378 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:1070 primary open angle glaucoma ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:SNP: :p.S326C (human) PMID:23499241|REF_RGD_ID:8657152 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:1115 sarcoma ISO RGD:732766 D RGD:9068941 20200609 RGD PMID:16024598|REF_RGD_ID:8657138 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:114 heart disease ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21873502 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:12336 male infertility ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23376476 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:12361 Graves' disease ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:mutation:exon:p.S326C (1245C>G, rs1052133) (human) PMID:21465496|REF_RGD_ID:8657376 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:12858 Huntington's disease ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19857538 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:14115 toxic shock syndrome ISO RGD:732766 D RGD:9068941 20200609 RGD PMID:15677345|REF_RGD_ID:8657146 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:14330 Parkinson's disease ISO RGD:1353911 D RGD:9068941 20200609 RGD protein:increased expression:substantia nigra, neuron PMID:15841414|REF_RGD_ID:8657142 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:polymorphism: :11657A>G (human) PMID:16614128|REF_RGD_ID:8657149 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer ISO RGD:1353911 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:11536371|REF_RGD_ID:8657371 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer disease_progression ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:24395279|REF_RGD_ID:8657368 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer no_association ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:SNPs:5' utr:c.-23A>G, c.-45G>A, c.-63G>C, (human) PMID:21153698|REF_RGD_ID:8657373 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer no_association ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.S326C (rs1052133) (human) PMID:16492928|REF_RGD_ID:8657157 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer no_association ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.R229Q (human) PMID:20183911|REF_RGD_ID:8657370 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer no_association ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.S326C, 7143A>G (human) PMID:16614128|REF_RGD_ID:8657149 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer no_association ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:transition:intron:IVS1+22G>A (human) PMID:11536371|REF_RGD_ID:8657371 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:SNP: :p.S326C (human) PMID:24606430|REF_RGD_ID:8657139 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2072668, p.S326C (human) PMID:24076439|REF_RGD_ID:8657140 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:SNPs:5' utr:c.-18G>T, c.-53G>C (human) PMID:21153698|REF_RGD_ID:8657373 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:1749 squamous cell carcinoma ISO RGD:732766 D RGD:9068941 20200609 RGD PMID:16024598|REF_RGD_ID:8657138 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:1793 pancreatic cancer ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs1052133 (human) PMID:18559563|REF_RGD_ID:2317130 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:polymorphism: :2657G>A (human) PMID:17230526|REF_RGD_ID:2317132 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:1824 status epilepticus ISO RGD:621168 D RGD:9068941 20200609 RGD PMID:18295498|REF_RGD_ID:2317139 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:2237 hepatitis ISO RGD:621168 D RGD:9068941 20200609 RGD PMID:14633694|REF_RGD_ID:8657400 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:224 transient cerebral ischemia ISO RGD:621168 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:14600440|REF_RGD_ID:8657406 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:2394 ovarian cancer susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs2304277) (human) PMID:24698998|REF_RGD_ID:8657369 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:2513 basal cell carcinoma ISO RGD:1353911 D RGD:9068941 20200609 RGD PMID:22436579|REF_RGD_ID:8657137 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:2513 basal cell carcinoma no_association ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.S326C (rs1052133)(human) PMID:15466987|REF_RGD_ID:8657158 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:2671 transitional cell carcinoma severity ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.S326C (rs1052133) (human) PMID:22110223|REF_RGD_ID:8657372 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:2843 long QT syndrome ISO RGD:1353911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:299 adenocarcinoma ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19336973 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:3042 allergic contact dermatitis ISO RGD:732766 D RGD:9068941 20200609 RGD PMID:15677345|REF_RGD_ID:8657146 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:3314 angiomyolipoma ISO RGD:1353911 D RGD:9068941 20200609 RGD associated with Tuberous Sclerosis;DNA:SNP: :p.S326C (rs1052133)(human) PMID:17932460|REF_RGD_ID:8657155 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:3314 angiomyolipoma ISO RGD:1353911 D RGD:9068941 20200609 RGD associated with Tuberous Sclerosis;mRNA, protein:decreased expression:kidney PMID:19265534|REF_RGD_ID:8657154 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:3314 angiomyolipoma no_association ISO RGD:1353911 D RGD:9068941 20200609 RGD associated with Tuberous Sclerosis;DNA:missense mutations: :p.R45Q, p.A85S, p.R229Q (human) PMID:17932460|REF_RGD_ID:8657155 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:621168 D RGD:9068941 20200609 RGD associated with Hypertension PMID:17920569|REF_RGD_ID:8657395 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:37 skin disease ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759981 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:3770 pulmonary fibrosis ISO RGD:1353911 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35654123 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:3910 lung adenocarcinoma ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23951099 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:4450 renal cell carcinoma ISO RGD:1353911 D RGD:7240710 20180130 OMIM 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1353911 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:10987279|PMID:12172214|PMID:19537786|PMID:21195604|PMID:25741868|PMID:9681819 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1353911 D RGD:9068941 20200609 RGD PMID:11866974|REF_RGD_ID:2317134 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity (human) PMID:11260864|REF_RGD_ID:2317136 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29709520 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1353911 D RGD:9068941 20200609 RGD PMID:22081374|REF_RGD_ID:8657144 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:5520 head and neck squamous cell carcinoma susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:SNP: :rs1052133 (human) PMID:21727658|REF_RGD_ID:8657147 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:630 genetic disease ISO RGD:1353911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:678 progressive supranuclear palsy ISO RGD:1353911 D RGD:9068941 20200609 RGD protein:increased expression:pontine nucleus, neuron PMID:15841414|REF_RGD_ID:8657142 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:83 cataract susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:SNP: :p.S326C (rs1052133)(human) PMID:22306120|REF_RGD_ID:8657151 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:9000011 Gallbladder Neoplasms susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2072668, p.S326C (rs1052133)(human) PMID:20564624|REF_RGD_ID:8657150 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:9000011 Gallbladder Neoplasms susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.S326C (human) PMID:19266243|REF_RGD_ID:2317128 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:9000081 Lymphatic Metastasis ISO RGD:1353911 D RGD:9068941 20200609 RGD associated with breast cancer;DNA:missense mutation:cds:p.S326C (rs1052133) (human) PMID:18977234|REF_RGD_ID:8657156 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24036326 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18768699 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:621168 D RGD:9068941 20200609 RGD PMID:23053977|REF_RGD_ID:8657403 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:9002221 Hyperplasia ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19336973 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11956079|PMID:14634453 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24599382 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:9002910 Hearing Loss, Noise-Induced susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.S326C (rs1052133) (human) PMID:24599382|REF_RGD_ID:8657374 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:9002955 Nerve Degeneration ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26629949 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:9003507 Premature Birth ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29709520 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:9004643 Urologic Neoplasms ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26359225 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:9004814 Chromosome Aberrations ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24036326 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:9005172 Lung Neoplasms ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17441966|PMID:19336973 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621168 D RGD:9068941 20200609 RGD PMID:18599524|REF_RGD_ID:8657153 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621168 D RGD:9068941 20200609 RGD protein:altered localization:pancreatic islet PMID:18676009|REF_RGD_ID:2317137 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732766 D RGD:9068941 20200609 RGD PMID:15677345|REF_RGD_ID:8657146 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:9005873 Tongue Neoplasms ISO RGD:1353911 D RGD:9068941 20200609 RGD protein:decreased expression:saliva PMID:19789535|REF_RGD_ID:8657148 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:621168 D RGD:9068941 20200609 RGD PMID:12531391|REF_RGD_ID:2317150 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:9006779 Discoid Lupus Erythematosus ISO RGD:1353911 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:33072095 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:9007023 Prenatal Injuries ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24075420 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:9007715 Endometrial Neoplasms ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:mutation:exon:p.S326C (1245C>G, rs1052133) (human) PMID:22271435|REF_RGD_ID:8657377 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:9007715 Endometrial Neoplasms no_association ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:mutation:exon:p.S326C (1245C>G, rs1052133) (human) PMID:22544315|REF_RGD_ID:8657379 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1353911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22652274 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353911 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic islet, mitochondrion PMID:12003641|REF_RGD_ID:2317133 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:936 brain disease ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24075420 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:9669 senile cataract susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.S326C (human) PMID:24868140|REF_RGD_ID:10401084 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:9923 developmental coordination disorder ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18768699 11783645 OGG1 8-oxoguanine DNA glycosylase gene DOID:9970 obesity ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29709520 11783704 FDCSP follicular dendritic cell secreted protein gene DOID:630 genetic disease ISO RGD:1353265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783704 FDCSP follicular dendritic cell secreted protein gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1353265 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11783721 DBR1 debranching RNA lariats 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1323625 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23104007 11783721 DBR1 debranching RNA lariats 1 gene DOID:630 genetic disease ISO RGD:1323625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11783721 DBR1 debranching RNA lariats 1 gene DOID:9003272 ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11 ISO RGD:1323625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalitis, acute, infection (viral)-induced, susceptibility to, 11 PMID:28492532|PMID:29474921 11783721 DBR1 debranching RNA lariats 1 gene DOID:9003272 ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11 susceptibility ISO RGD:1323625 D RGD:7240710 20210728 OMIM 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:10763 hypertension ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:23499735|REF_RGD_ID:11561939 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1347480 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:25209900|REF_RGD_ID:11558015 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:1596 depressive disorder treatment ISO RGD:1332294 D RGD:9068941 20200609 RGD PMID:25386878|REF_RGD_ID:11561930 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:1686 glaucoma ISO RGD:735183 D RGD:9068941 20200609 RGD protein:increased expression:optic nerve PMID:24136224|REF_RGD_ID:13782046 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:224 transient cerebral ischemia treatment ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:22509406|REF_RGD_ID:11561910 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:2843 long QT syndrome ISO RGD:1347480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:3068 glioblastoma treatment ISO RGD:1347480 D RGD:9068941 20200609 RGD PMID:24905460|REF_RGD_ID:11561946 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:326 ischemia ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:25435100|REF_RGD_ID:11561945 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1332294 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:23851366|REF_RGD_ID:11561951 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:5082 liver cirrhosis ISO RGD:1347480 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:22895779|REF_RGD_ID:11561934 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:5327 retinal detachment ISO RGD:1332294 D RGD:9068941 20200609 RGD PMID:26093278|REF_RGD_ID:11561987 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:5327 retinal detachment ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:26093278|REF_RGD_ID:11561987 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:5844 myocardial infarction treatment ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:20079142|REF_RGD_ID:11561913 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:630 genetic disease ISO RGD:1347480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:90 degenerative disc disease ISO RGD:735183 D RGD:9068941 20200609 RGD protein:increased expression:intervertebral disc PMID:22835012|REF_RGD_ID:11561942 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9000039 Spinal Cord Injuries ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:24559459|REF_RGD_ID:11561918 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9000039 Spinal Cord Injuries ISO RGD:735183 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:23637053|REF_RGD_ID:11564330 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:23852559|REF_RGD_ID:11561922 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:24990154|REF_RGD_ID:11561988 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9000998 Brain Injuries ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:24221859|REF_RGD_ID:11558018 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9002211 Hyperalgesia ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:23665054|REF_RGD_ID:11560531 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9002676 Cerebral Hemorrhage ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:23884876|REF_RGD_ID:11561935 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9002955 Nerve Degeneration ISO RGD:735183 D RGD:9068941 20200609 RGD protein:increased expression:lumbar spinal cord ventral horn PMID:21436843|REF_RGD_ID:5685686 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:25919564|REF_RGD_ID:11558017 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9003936 Cardiomegaly treatment ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:24998254|REF_RGD_ID:11561938 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9004332 Osteoarthritis, Experimental treatment ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:23589102|REF_RGD_ID:11561955 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1332294 D RGD:9068941 20200609 RGD PMID:20075199|REF_RGD_ID:11561916 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:26412257|REF_RGD_ID:11561958 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9006281 Temporomandibular Joint Disorders ISO RGD:735183 D RGD:9068941 20200609 RGD protein:increased expression:cartilage tissue PMID:23386193|REF_RGD_ID:10041017 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:1332294 D RGD:9068941 20200609 RGD PMID:22850625|REF_RGD_ID:11560530 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9007730 Burns ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:24730400|REF_RGD_ID:11561936 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1332294 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:20812860|REF_RGD_ID:11561944 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:20821058|REF_RGD_ID:11561911 11783733 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:21820301|REF_RGD_ID:11561956 11783743 C22H22orf15 chromosome 22 C22orf15 homolog gene DOID:0060214 frontotemporal dementia and/or amyotrophic lateral sclerosis-2 ISO RGD:1349066 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: FTDALS2 PMID:28492532 11783743 C22H22orf15 chromosome 22 C22orf15 homolog gene DOID:0081135 agammaglobulinemia 2 ISO RGD:1349066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 11783743 C22H22orf15 chromosome 22 C22orf15 homolog gene DOID:1826 epilepsy ISO RGD:1349066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11783743 C22H22orf15 chromosome 22 C22orf15 homolog gene DOID:5419 schizophrenia ISO RGD:1349066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11783743 C22H22orf15 chromosome 22 C22orf15 homolog gene DOID:630 genetic disease ISO RGD:1349066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783743 C22H22orf15 chromosome 22 C22orf15 homolog gene DOID:9004598 Spinal Muscular Atrophy, Jokela Type ISO RGD:1349066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, jokela type PMID:28492532 11783743 C22H22orf15 chromosome 22 C22orf15 homolog gene DOID:9008878 MITOCHONDRIAL MYOPATHY, ISOLATED, AUTOSOMAL DOMINANT ISO RGD:1349066 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myopathy, isolated mitochondrial, autosomal dominant PMID:28492532 11783781 POLR3E RNA polymerase III subunit E gene DOID:0080114 mitochondrial complex III deficiency nuclear type 5 ISO RGD:1317654 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 5 PMID:25741868 11783781 POLR3E RNA polymerase III subunit E gene DOID:12849 autistic disorder ISO RGD:1317654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11783781 POLR3E RNA polymerase III subunit E gene DOID:5419 schizophrenia ISO RGD:1317654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11783781 POLR3E RNA polymerase III subunit E gene DOID:630 genetic disease ISO RGD:1317654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783809 DNPEP aspartyl aminopeptidase gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1313575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11783809 DNPEP aspartyl aminopeptidase gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1313575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11783809 DNPEP aspartyl aminopeptidase gene DOID:0111214 distal spinal muscular atrophy type 5 ISO RGD:1313575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Young adult-onset distal hereditary motor neuropathy PMID:28492532 11783809 DNPEP aspartyl aminopeptidase gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1313575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11783809 DNPEP aspartyl aminopeptidase gene DOID:1148 polydactyly ISO RGD:1313575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 11783809 DNPEP aspartyl aminopeptidase gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1313575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11783809 DNPEP aspartyl aminopeptidase gene DOID:630 genetic disease ISO RGD:1313575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783809 DNPEP aspartyl aminopeptidase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11783844 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:735610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:28492532 11783844 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:735610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 11783844 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:735610 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:10873396|PMID:14555765|PMID:15249368|PMID:15347646|PMID:16123401|PMID:18055820|PMID:20301475|PMID:22412862|PMID:23737531|PMID:25741868|PMID:26626312|PMID:28492532|PMID:29068479 11783844 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:735610 D RGD:7240710 20180130 OMIM 11783844 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:735610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AIPL1-Related Disorders | ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:10615133|PMID:10873396|PMID:10927016|PMID:11139241|PMID:12573663|PMID:12881340|PMID:14555765|PMID:14611946|PMID:15024725|PMID:15249368|PMID:15347646|PMID:15469903|PMID:16052170|PMID:16123401|PMID:16199547|PMID:16205573|PMID:17576681|PMID:17964524|PMID:18055820|PMID:18408180|PMID:18682808|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20702822|PMID:21474771|PMID:21900377|PMID:22347407|PMID:22412862|PMID:23737531|PMID:24093488|PMID:24426771|PMID:25148430|PMID:25356976|PMID:25596619|PMID:25741868|PMID:25799540|PMID:26047050|PMID:26306921|PMID:26626312|PMID:26650897|PMID:27268253|PMID:28041643|PMID:28492532|PMID:28739921|PMID:28973376|PMID:29068479|PMID:29178642|PMID:29641573|PMID:30029497|PMID:30576320|PMID:30718709|PMID:30910914|PMID:32531858|PMID:33067476|PMID:33623043|PMID:9536098 11783844 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:735610 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11783844 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:0111005 cone-rod dystrophy 2 ISO RGD:735610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 2 PMID:25741868 11783844 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:0111406 Fraser syndrome 3 ISO RGD:735610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 PMID:24426771|PMID:28492532 11783844 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:0112232 lissencephaly 3 ISO RGD:735610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation PMID:10873396|PMID:22412862|PMID:25741868|PMID:28492532 11783844 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:10584 retinitis pigmentosa ISO RGD:735610 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10873396|PMID:11139241|PMID:12881340|PMID:14611946|PMID:15249368|PMID:15469903|PMID:16052170|PMID:18408180|PMID:18682808|PMID:20301475|PMID:20683928|PMID:22412862|PMID:23737531|PMID:25741868|PMID:28492532 11783844 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:10584 retinitis pigmentosa treatment ISO RGD:733112 D RGD:9068941 20200609 RGD PMID:19710705|REF_RGD_ID:8696011 11783844 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:10584 retinitis pigmentosa treatment ISO RGD:735610 D RGD:9068941 20200609 RGD PMID:19710705|REF_RGD_ID:8696011 11783844 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:1432 blindness susceptibility ISO RGD:735610 D RGD:9068941 20200609 RGD PMID:10873396|REF_RGD_ID:1599003 11783844 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:735610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:10615133|PMID:10873396|PMID:15024725|PMID:15249368|PMID:15347646|PMID:18408180|PMID:20079931|PMID:20301475|PMID:20702822|PMID:21474771|PMID:22412862|PMID:25596619|PMID:25741868|PMID:25799540|PMID:26306921|PMID:27268253|PMID:28041643|PMID:28492532|PMID:28739921|PMID:28973376|PMID:29641573|PMID:30718709|PMID:32531858|PMID:33067476 11783844 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:14791 Leber congenital amaurosis treatment ISO RGD:735610 D RGD:9068941 20200609 RGD PMID:19710705|REF_RGD_ID:8696011 11783844 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:630 genetic disease ISO RGD:735610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11783844 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:8501 fundus dystrophy ISO RGD:735610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10615133|PMID:10873396|PMID:15249368|PMID:15347646|PMID:20301475|PMID:21474771|PMID:22412862|PMID:25596619|PMID:25741868|PMID:25799540|PMID:28041643|PMID:28492532|PMID:30718709|PMID:33067476 11783844 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:9008296 Eye Abnormalities ISO RGD:735610 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868 11783872 NUP88 nucleoporin 88 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:733611 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 11783872 NUP88 nucleoporin 88 gene DOID:0111379 fetal akinesia deformation sequence syndrome 4 ISO RGD:733611 D RGD:7240710 20190515 OMIM 11783872 NUP88 nucleoporin 88 gene DOID:0111379 fetal akinesia deformation sequence syndrome 4 ISO RGD:733611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 PMID:25741868|PMID:30543681 11783872 NUP88 nucleoporin 88 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:733611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11783872 NUP88 nucleoporin 88 gene DOID:630 genetic disease ISO RGD:733611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783893 ANO1 anoctamin 1 gene DOID:1059 intellectual disability ISO RGD:1321890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11783893 ANO1 anoctamin 1 gene DOID:630 genetic disease ISO RGD:1321890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783893 ANO1 anoctamin 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1321890 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11783893 ANO1 anoctamin 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1321890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11783925 LSS lanosterol synthase gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:736635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11783925 LSS lanosterol synthase gene DOID:0080582 hypotrichosis 14 ISO RGD:736635 D RGD:7240710 20190315 OMIM 11783925 LSS lanosterol synthase gene DOID:0080582 hypotrichosis 14 ISO RGD:736635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypotrichosis 14 PMID:25741868|PMID:28492532|PMID:30401459|PMID:30723320|PMID:33155697 11783925 LSS lanosterol synthase gene DOID:0080950 alopecia-mental retardation syndrome 4 ISO RGD:736635 D RGD:7240710 20200429 OMIM 11783925 LSS lanosterol synthase gene DOID:0080950 alopecia-mental retardation syndrome 4 ISO RGD:736635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 4 PMID:17576681|PMID:25741868|PMID:28492532|PMID:30401459|PMID:30723320|PMID:33155697|PMID:9536098 11783925 LSS lanosterol synthase gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:736635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 11783925 LSS lanosterol synthase gene DOID:0110266 cataract 9 multiple types ISO RGD:736635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11783925 LSS lanosterol synthase gene DOID:0110267 cataract 44 ISO RGD:736635 D RGD:7240710 20180130 OMIM 11783925 LSS lanosterol synthase gene DOID:0110267 cataract 44 ISO RGD:736635 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cataract 44 PMID:25741868|PMID:28492532 11783925 LSS lanosterol synthase gene DOID:11100 Q fever ISO RGD:736635 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16469060 11783925 LSS lanosterol synthase gene DOID:12849 autistic disorder ISO RGD:736635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11783925 LSS lanosterol synthase gene DOID:630 genetic disease ISO RGD:736635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11783925 LSS lanosterol synthase gene DOID:83 cataract ISO RGD:736635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 11783925 LSS lanosterol synthase gene DOID:891 progressive myoclonus epilepsy ISO RGD:736635 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11783925 LSS lanosterol synthase gene DOID:9000808 Hypercholesterolemia ISO RGD:733768 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:25168180|REF_RGD_ID:13782271 11783925 LSS lanosterol synthase gene DOID:9263 homocystinuria ISO RGD:736635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11783925 LSS lanosterol synthase gene DOID:9455 lipid storage disease ISO RGD:736635 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414 11783925 LSS lanosterol synthase gene DOID:9562 primary ciliary dyskinesia ISO RGD:736635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11783952 ABLIM2 actin binding LIM protein family member 2 gene DOID:630 genetic disease ISO RGD:1349528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11783952 ABLIM2 actin binding LIM protein family member 2 gene DOID:9002189 High Myopia ISO RGD:1349528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11784013 LOC100975221 olfactory receptor 8G1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1346948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11784013 LOC100975221 olfactory receptor 8G1 gene DOID:5419 schizophrenia ISO RGD:1346948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11784013 LOC100975221 olfactory receptor 8G1 gene DOID:630 genetic disease ISO RGD:1346948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784013 LOC100975221 olfactory receptor 8G1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1346948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11784013 LOC100975221 olfactory receptor 8G1 gene DOID:9007661 Dwarfism ISO RGD:1346948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11784017 GTF2H5 general transcription factor IIH subunit 5 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1345695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 11784017 GTF2H5 general transcription factor IIH subunit 5 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1345695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 11784017 GTF2H5 general transcription factor IIH subunit 5 gene DOID:0111871 photosensitive trichothiodystrophy 3 ISO RGD:1345695 D RGD:7240710 20180130 OMIM 11784017 GTF2H5 general transcription factor IIH subunit 5 gene DOID:0111871 photosensitive trichothiodystrophy 3 ISO RGD:1345695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 3, photosensitive PMID:15220921|PMID:24986372|PMID:25620205|PMID:25741868|PMID:28492532|PMID:30359777 11784017 GTF2H5 general transcription factor IIH subunit 5 gene DOID:630 genetic disease ISO RGD:1345695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11784024 CEACAM3 CEA cell adhesion molecule 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:737213 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11784024 CEACAM3 CEA cell adhesion molecule 3 gene DOID:1342 congenital hypoplastic anemia ISO RGD:737213 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11784024 CEACAM3 CEA cell adhesion molecule 3 gene DOID:2340 craniosynostosis ISO RGD:737213 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11784024 CEACAM3 CEA cell adhesion molecule 3 gene DOID:5419 schizophrenia ISO RGD:737213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11784024 CEACAM3 CEA cell adhesion molecule 3 gene DOID:630 genetic disease ISO RGD:737213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784024 CEACAM3 CEA cell adhesion molecule 3 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:737213 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11784024 CEACAM3 CEA cell adhesion molecule 3 gene DOID:9269 maple syrup urine disease ISO RGD:737213 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11784038 NAV1 neuron navigator 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1315590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11784038 NAV1 neuron navigator 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1315590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11784038 NAV1 neuron navigator 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1315590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11784038 NAV1 neuron navigator 1 gene DOID:630 genetic disease ISO RGD:1315590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784038 NAV1 neuron navigator 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1315590 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11784038 NAV1 neuron navigator 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11784073 MAP4K5 mitogen-activated protein kinase kinase kinase kinase 5 gene DOID:0070156 hereditary sensory neuropathy type 1D ISO RGD:1346481 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory, type 1D PMID:25741868|PMID:26467025|PMID:28492532 11784073 MAP4K5 mitogen-activated protein kinase kinase kinase kinase 5 gene DOID:0110791 hereditary spastic paraplegia 3A ISO RGD:1346481 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 11784073 MAP4K5 mitogen-activated protein kinase kinase kinase kinase 5 gene DOID:630 genetic disease ISO RGD:1346481 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 11784117 CD2BP2 CD2 cytoplasmic tail binding protein 2 gene DOID:630 genetic disease ISO RGD:1323355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784134 RPL36 ribosomal protein L36 gene DOID:2661 myoepithelioma ISO RGD:736673 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11784143 SMG9 SMG9 nonsense mediated mRNA decay factor gene DOID:0060041 autism spectrum disorder ISO RGD:1606789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11784143 SMG9 SMG9 nonsense mediated mRNA decay factor gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1606789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 11784143 SMG9 SMG9 nonsense mediated mRNA decay factor gene DOID:5419 schizophrenia ISO RGD:1606789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11784143 SMG9 SMG9 nonsense mediated mRNA decay factor gene DOID:630 genetic disease ISO RGD:1606789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784143 SMG9 SMG9 nonsense mediated mRNA decay factor gene DOID:684 hepatocellular carcinoma severity ISO RGD:1606789 D RGD:9068941 20230128 RGD PMID:34456727|REF_RGD_ID:155882446 11784143 SMG9 SMG9 nonsense mediated mRNA decay factor gene DOID:9004088 NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES ISO RGD:1606789 D RGD:7240710 20221221 OMIM 11784143 SMG9 SMG9 nonsense mediated mRNA decay factor gene DOID:9004088 NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES ISO RGD:1606789 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies PMID:35087184 11784143 SMG9 SMG9 nonsense mediated mRNA decay factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606789 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:31390136 11784143 SMG9 SMG9 nonsense mediated mRNA decay factor gene DOID:9006295 HEART AND BRAIN MALFORMATION SYNDROME ISO RGD:1606789 D RGD:7240710 20190315 OMIM 11784143 SMG9 SMG9 nonsense mediated mRNA decay factor gene DOID:9006295 HEART AND BRAIN MALFORMATION SYNDROME ISO RGD:1606789 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Heart and brain malformation syndrome PMID:25741868|PMID:27018474|PMID:28492532|PMID:31390136 11784143 SMG9 SMG9 nonsense mediated mRNA decay factor gene DOID:9008086 Developmental Disabilities ISO RGD:1606789 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:27018474 11784169 BANP BTG3 associated nuclear protein gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1316673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 11784169 BANP BTG3 associated nuclear protein gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1316673 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11784169 BANP BTG3 associated nuclear protein gene DOID:3070 high grade glioma ISO RGD:1316673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11784169 BANP BTG3 associated nuclear protein gene DOID:630 genetic disease ISO RGD:1316673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784169 BANP BTG3 associated nuclear protein gene DOID:9002957 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO ISO RGD:1316673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to PMID:24530203|PMID:26913920|PMID:28492532 11784169 BANP BTG3 associated nuclear protein gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1316673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 11784182 SCRN1 secernin 1 gene DOID:10283 prostate cancer ISO RGD:1348666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11784182 SCRN1 secernin 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11784182 SCRN1 secernin 1 gene DOID:630 genetic disease ISO RGD:1348666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784182 SCRN1 secernin 1 gene DOID:8398 osteoarthritis ISO RGD:1348666 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11784182 SCRN1 secernin 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1348666 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11784209 BAALC BAALC binder of MAP3K1 and KLF4 gene DOID:0111590 Cohen syndrome ISO RGD:736795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 11784209 BAALC BAALC binder of MAP3K1 and KLF4 gene DOID:630 genetic disease ISO RGD:736795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784209 BAALC BAALC binder of MAP3K1 and KLF4 gene DOID:9119 acute myeloid leukemia ISO RGD:736795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19822134 11784225 BEST2 bestrophin 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1313368 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11784225 BEST2 bestrophin 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1313368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11784225 BEST2 bestrophin 2 gene DOID:0111254 glutaric acidemia I ISO RGD:1313368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11784225 BEST2 bestrophin 2 gene DOID:3413 alpha-mannosidosis ISO RGD:1313368 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11784225 BEST2 bestrophin 2 gene DOID:630 genetic disease ISO RGD:1313368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784238 GPRC5C G protein-coupled receptor class C group 5 member C gene DOID:630 genetic disease ISO RGD:1322855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784258 CCNB2 cyclin B2 gene DOID:0080600 COVID-19 ISO RGD:1317801 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11784258 CCNB2 cyclin B2 gene DOID:2717 Bloom syndrome ISO RGD:1317801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11784258 CCNB2 cyclin B2 gene DOID:630 genetic disease ISO RGD:1317801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784258 CCNB2 cyclin B2 gene DOID:684 hepatocellular carcinoma ISO RGD:1317801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11784258 CCNB2 cyclin B2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11784258 CCNB2 cyclin B2 gene DOID:9256 colorectal cancer ISO RGD:1317801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:0040007 abacavir allergy ISO RGD:1352836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abacavir hypersensitivity PMID:11888582|PMID:11943262|PMID:12462283|PMID:15024131|PMID:15247624|PMID:15247625|PMID:18256392|PMID:19483685 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1352836 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:15057820|PMID:15743917|PMID:16538176|PMID:18855540|PMID:19694795|PMID:19915237|PMID:20235791|PMID:20485159|PMID:21428768|PMID:25099164 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1352836 D RGD:9068941 20200611 RGD DNA:polymorphism:cds:HLA-B*5801 (human, Japanese) PMID:19018717|REF_RGD_ID:7364874 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:0050426 Stevens-Johnson syndrome susceptibility ISO RGD:1352836 D RGD:9068941 20230506 RGD DNA:polymorphisms:cds:HLA-B*15:02, HLA-B*40:01, HLA-B*58:02 (human) PMID:23692434|REF_RGD_ID:7365090 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:0050486 exanthem ISO RGD:1352836 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:0050553 JMP syndrome ISO RGD:1352836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:0060180 colitis ISO RGD:1352836 D RGD:9068941 20200611 RGD human gene in rat model; DNA:polymorphism:cds:HLA-B27 (human) PMID:2257626|REF_RGD_ID:7387221 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:0060500 drug allergy ISO RGD:1352836 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:11943262|PMID:15024131|PMID:17392574|PMID:18007983 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:0080160 cytomegalovirus retinitis ISO RGD:1352836 D RGD:9068941 20200611 RGD associated with HIV Infections; DNA:polymorphisms, haplotype:cds:HLA-B44 (human) PMID:11564593|REF_RGD_ID:7365106 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:0080600 COVID-19 ISO RGD:1352836 D RGD:9068941 20200625 RGD DNA:polymorphism:cds:HLA-B*15:27 (human) PMID:32424945|REF_RGD_ID:32716370 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:0080750 erythema nodosum ISO RGD:1352836 D RGD:9068941 20200611 RGD associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:multiple (human) PMID:12198697|REF_RGD_ID:7364926 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:0080820 occupational asthma susceptibility ISO RGD:1352836 D RGD:9068941 20200611 RGD DNA:SNP: :rs1811197(human) PMID:24709764|REF_RGD_ID:13506912 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:0111079 birdshot chorioretinopathy ISO RGD:1352836 D RGD:9068941 20200611 RGD DNA:polymorphism:cds:HLA-B12 (human) PMID:3341436|REF_RGD_ID:7365121 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:10003 sensorineural hearing loss ISO RGD:1352836 D RGD:9068941 20200611 RGD associated with Behcet Syndrome; DNA:polymorphism:cds:HLA-B51 (human) PMID:15855027|REF_RGD_ID:7364915 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:10223 dermatomyositis ISO RGD:1352836 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:3501473 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:10952 nephritis ISO RGD:1352836 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:3084782 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:1123 spondyloarthropathy ISO RGD:1352836 D RGD:9068941 20200611 RGD human gene in a rat model;DNA:polymorphism:cds:HLA-B27 (human) PMID:2257626|REF_RGD_ID:7387221 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:1123 spondyloarthropathy no_association ISO RGD:1352836 D RGD:9068941 20200611 RGD DNA:polymorphism:cds:HLA-B2705 (human) PMID:21927904|REF_RGD_ID:10755579 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:11265 trachoma ISO RGD:1352836 D RGD:9068941 20200611 RGD DNA:polymorphism:cds:HLA-B*14 (human, Tanzanian) PMID:18824733|REF_RGD_ID:7364877 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:11335 sarcoidosis susceptibility ISO RGD:1352836 D RGD:9068941 20200611 RGD DNA:polymorphisms:cds:HLA-B-7, HLA-B-8 (human) PMID:23808178|REF_RGD_ID:7364872 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:11372 megacolon ISO RGD:1352836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:11563 retinal vasculitis ISO RGD:1352836 D RGD:9068941 20200611 RGD associated with Behcet Syndrome; DNA:polymorphism:cds HLA B-5 (human) PMID:12608042|REF_RGD_ID:7364920 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:1205 allergic disease ISO RGD:1352836 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:23541086 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:12185 otosclerosis susceptibility ISO RGD:1352836 D RGD:9068941 20200611 RGD DNA:polymorphisms:cds:HLA-B*35, HLA-B*51 (human, Tunisian) PMID:22471616|REF_RGD_ID:7364875 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:12361 Graves' disease ISO RGD:1352836 D RGD:9068941 20200611 RGD DNA:polymorphism:cds:HLA-B39 (human) PMID:8894996|REF_RGD_ID:7365110 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:12361 Graves' disease onset ISO RGD:1352836 D RGD:9068941 20200611 RGD DNA:polymorphism:cds:HLA-B8 (human) PMID:2401095|REF_RGD_ID:7365118 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:12361 Graves' disease susceptibility ISO RGD:1352836 D RGD:9068941 20200611 RGD DNA:polymorphism, haplotype:cds:HLA-B*5801 (human) PMID:12694583|REF_RGD_ID:7365098 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:12361 Graves' disease susceptibility ISO RGD:1352836 D RGD:9068941 20200611 RGD DNA:polymorphism, haplotype:cds:HLA-B8 (human) PMID:8096501|REF_RGD_ID:7365112 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:12361 Graves' disease susceptibility ISO RGD:1352836 D RGD:9068941 20200611 RGD DNA:polymorphism:cds:HLA-B*46 (human) PMID:23329888|REF_RGD_ID:7365094 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:13025 retinopathy of prematurity ISO RGD:1352836 D RGD:9068941 20200611 RGD DNA:polymorphism:cds:HLA-B*38 (human) PMID:24033735|REF_RGD_ID:7365093 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:13141 uveitis onset ISO RGD:1352836 D RGD:9068941 20200611 RGD associated with Behcet Syndrome; DNA:polymorphisms:cds:HLA-B*51 (human) PMID:23831258|REF_RGD_ID:7364788 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:13141 uveitis treatment ISO RGD:1352836 D RGD:9068941 20200611 RGD PMID:9232451|REF_RGD_ID:7364942 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:13241 Behcet's disease ISO RGD:1352836 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:20622878|PMID:23396137 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:13241 Behcet's disease ISO RGD:1352836 D RGD:9068941 20200611 RGD DNA:polymorphism:cds:HLA-B*51 (human) PMID:16101830|REF_RGD_ID:7364873 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:13241 Behcet's disease ISO RGD:1352836 D RGD:9068941 20200611 RGD DNA:polymorphism:cds:HLA-B*51 (human, Turkish) PMID:11426025|REF_RGD_ID:7364939 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:13241 Behcet's disease disease_progression ISO RGD:1352836 D RGD:9068941 20200611 RGD DNA:polymorphism:cds:HLA-B*15 (human) PMID:12622781|REF_RGD_ID:7364918 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:1407 anterior uveitis ISO RGD:1352836 D RGD:9068941 20200611 RGD DNA:polymorphism:cds:HLA-B27 (human, Thai) PMID:16899524|REF_RGD_ID:7364913 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:2703 synovitis ISO RGD:1352836 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:12648975 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:2703 synovitis susceptibility ISO RGD:1352836 D RGD:9068941 20200611 RGD associated with Hemophilia;DNA:polymorphism:cds:HLA-B*2708(human) PMID:12889998|REF_RGD_ID:10755578 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:2723 dermatitis ISO RGD:1352836 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:18007983|PMID:3084782 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:2723 dermatitis ISO RGD:1352836 D RGD:9068941 20200611 RGD human gene in rat model; DNA:polymorphisms:cds:HLA-B*2705 (human) PMID:7573371|REF_RGD_ID:7387278 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:2841 asthma susceptibility ISO RGD:1352836 D RGD:9068941 20200611 RGD DNA:polymorphism: PMID:28380482|REF_RGD_ID:13506910 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:2945 severe acute respiratory syndrome ISO RGD:1352836 D RGD:9068941 20200626 RGD DNA:polymorphism:cds:HLA-B*0703 (human) PMID:15243926|REF_RGD_ID:32716381 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1352836 D RGD:9068941 20200626 RGD DNA:polymorphism:cds:HLA-B*4601 (human) PMID:12969506|REF_RGD_ID:32716382 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:3070 high grade glioma ISO RGD:1352836 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:14511464 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:3611 acute retinal necrosis syndrome ISO RGD:1352836 D RGD:9068941 20200611 RGD DNA:polymorphism:cds:HLA-Bw62 (human) PMID:2801857|REF_RGD_ID:7365119 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:3875 thrombophlebitis ISO RGD:1352836 D RGD:9068941 20200611 RGD associated with Behcet Syndrome; DNA:polymorphisms:cds:HLA-B35, HLA-B51 (human, Turkish) PMID:12372094|REF_RGD_ID:7364924 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:399 tuberculosis susceptibility ISO RGD:1352836 D RGD:9068941 20200723 RGD associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-B41 PMID:19030725|REF_RGD_ID:36049809 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:4362 cervical cancer susceptibility ISO RGD:1352836 D RGD:9068941 20200723 RGD associated with Papillomavirus Infections;DNA:polymorphism: :HLA-B7 PMID:12543794|REF_RGD_ID:2314696 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:437 myasthenia gravis ISO RGD:1352836 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:6402089|PMID:6605118 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1352836 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:17496894 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:526 human immunodeficiency virus infectious disease susceptibility ISO RGD:1352836 D RGD:9068941 20201225 RGD DNA:polymorphism:cds:HLA-DRB1*08, HLA-B*35, HLA-C*04 (human) PMID:28244954|REF_RGD_ID:40903000 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:576 proteinuria ISO RGD:1352836 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:3459889|PMID:3487119|PMID:6376799|PMID:6770269 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:6039 uveal melanoma severity ISO RGD:1352836 D RGD:9068941 20200611 RGD protein:increased expression:tumor of uvea (human) PMID:9286277|REF_RGD_ID:7364941 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:6196 reactive arthritis ISO RGD:1352836 D RGD:9068941 20200611 RGD associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:HLA-B*27, HLA-B*35, HLA-B*44 (human) PMID:10648455|REF_RGD_ID:7364930 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:7147 ankylosing spondylitis ISO RGD:1352836 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:21743469|PMID:22138694|PMID:8053961 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:7147 ankylosing spondylitis no_association ISO RGD:1352836 D RGD:9068941 20200611 RGD DNA:polymorphism:cds:HLA-B2705 (human) PMID:21927904|REF_RGD_ID:10755579 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:7147 ankylosing spondylitis susceptibility ISO RGD:1352836 D RGD:9068941 20200611 RGD DNA:polymorphisms:cds:HLA-B27, HLA-B60 (human, Caucasian) PMID:8733445|REF_RGD_ID:7364914 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1352836 D RGD:9068941 20200611 RGD associated with Diabetes Mellitus, Type 1; DNA:polymorphisms:cds:HLA-B*49 (human) PMID:22981956|REF_RGD_ID:7365095 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:9000380 Spondylarthritis susceptibility ISO RGD:1352836 D RGD:9068941 20200611 RGD DNA:polymorphism:cds:HLA-B*2714, B*2705 (human) PMID:12889998|REF_RGD_ID:10755578 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1352836 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:3459889 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:9001044 Choroidal Neovascularization susceptibility ISO RGD:1352836 D RGD:9068941 20200611 RGD associated with Macular Degeneration; DNA:polymorphisms:cds:HLA-B27 (human) PMID:19728932|REF_RGD_ID:7365097 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:9001472 Nasal Polyps susceptibility ISO RGD:1352836 D RGD:9068941 20200611 RGD DNA:polymorphisms:cds:HLA-B*07, HLA-B*57 (human, Turkish) PMID:18922348|REF_RGD_ID:7364876 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:9001537 Presumed Ocular Histoplasmosis Syndrome ISO RGD:1352836 D RGD:9068941 20200611 RGD DNA:polymorphism:cds:HLA-B7 (human) PMID:14522093|REF_RGD_ID:7364917 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:9001606 Acute Anterior Uveitis ISO RGD:1352836 D RGD:9068941 20200611 RGD associated with Inflammatory Bowel Diseases;DNA:polymorphisms:cds:HLA-B*27, HLA-B*58 (human) PMID:12198697|REF_RGD_ID:7364926 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:9004283 Transplant Rejection treatment ISO RGD:1352836 D RGD:9068941 20200611 RGD human peptide in rat model; HLA-B7 PMID:9233694|REF_RGD_ID:7387273 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:9004932 Eales Disease ISO RGD:1352836 D RGD:9068941 20200611 RGD DNA:polymorphisms, haplotypes:cds:HLA-B12, HLA-B44 (human) PMID:9756436|REF_RGD_ID:7365108 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:9005236 Drug Eruptions ISO RGD:1352836 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:19712599|PMID:29370880 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:9005578 Hearing Loss, Unilateral Sensorineural ISO RGD:1352836 D RGD:9068941 20200611 RGD Unilateral Childhood Sensorineural Hearing Loss; DNA:polymorphism:cds:HLA-Bw54 (human) PMID:2909230|REF_RGD_ID:7365120 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:9005647 Experimental Autoimmune Uveitis treatment ISO RGD:1352836 D RGD:9068941 20200611 RGD human HLA-B27 peptide in rat model PMID:15681796|REF_RGD_ID:7364916 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:9005647 Experimental Autoimmune Uveitis treatment ISO RGD:1352836 D RGD:9068941 20200611 RGD human peptide in rat model; HLA-B27 PMID:9232451|REF_RGD_ID:7364942 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1352836 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:29370880|PMID:3084782|PMID:3133153|PMID:3157529|PMID:3437418|PMID:6770269 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:9006927 Thyrotoxic Periodic Paralysis ISO RGD:1352836 D RGD:9068941 20200611 RGD protein:increased expression:peripheral blood cell (human) PMID:1752149|REF_RGD_ID:8655904 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Drug-induced liver injury due to flucloxacillin PMID:11888582|PMID:11943262|PMID:12462283|PMID:15024131|PMID:15247624|PMID:15247625|PMID:18256392|PMID:19483685 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:9007425 Diffuse Panbronchiolitis susceptibility ISO RGD:1352836 D RGD:9068941 20201203 RGD DNA:polymorphism:cds:HLA-B*5401 (human) PMID:9731015|REF_RGD_ID:1331522 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:9007647 Trichiasis ISO RGD:1352836 D RGD:9068941 20200611 RGD DNA:polymorphisms:cds HLA-B*07, HLA-B*08 (human, Tanzanian) PMID:18824733|REF_RGD_ID:7364877 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:9415 allergic asthma susceptibility ISO RGD:1352836 D RGD:9068941 20200611 RGD DNA:polymorphism: PMID:28380482|REF_RGD_ID:13506910 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:9849 Meniere's disease ISO RGD:1352836 D RGD:9068941 20200611 RGD DNA:polymorphism:cds:HLA-B44 (human, South Korean) PMID:12542204|REF_RGD_ID:7364921 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:987 alopecia ISO RGD:1352836 D RGD:9068941 20200611 RGD human gene in rat model; DNA:polymorphisms:cds:HLA-B*2705 (human) PMID:7573371|REF_RGD_ID:7387278 11784271 LOC100982859 HLA class I histocompatibility antigen, B alpha chain gene DOID:988 mitral valve prolapse ISO RGD:1352836 D RGD:9068941 20200611 RGD associated with Graves Disease; DNA:polymorphism:cds:HLA-B15 (human) PMID:8894996|REF_RGD_ID:7365110 11784290 DNAJC4 DnaJ heat shock protein family (Hsp40) member C4 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1318614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11784290 DNAJC4 DnaJ heat shock protein family (Hsp40) member C4 gene DOID:1059 intellectual disability ISO RGD:1318614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11784290 DNAJC4 DnaJ heat shock protein family (Hsp40) member C4 gene DOID:3070 high grade glioma ISO RGD:1318614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11784290 DNAJC4 DnaJ heat shock protein family (Hsp40) member C4 gene DOID:630 genetic disease ISO RGD:1318614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784316 LGI4 leucine rich repeat LGI family member 4 gene DOID:0080978 arthrogryposis multiplex congenita-1 ISO RGD:1344124 D RGD:7240710 20190315 OMIM 11784316 LGI4 leucine rich repeat LGI family member 4 gene DOID:0080978 arthrogryposis multiplex congenita-1 ISO RGD:1344124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect PMID:25741868|PMID:25954003|PMID:27618451|PMID:28318499|PMID:28490743|PMID:28492532|PMID:32860008 11784316 LGI4 leucine rich repeat LGI family member 4 gene DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 ISO RGD:1344124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 2, neurogenic type PMID:25741868 11784316 LGI4 leucine rich repeat LGI family member 4 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1344124 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11784316 LGI4 leucine rich repeat LGI family member 4 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1344124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11784316 LGI4 leucine rich repeat LGI family member 4 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1344124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 11784316 LGI4 leucine rich repeat LGI family member 4 gene DOID:1825 childhood absence epilepsy ISO RGD:1344124 D RGD:9068941 20200609 RGD DNA:point mutation: :c.1914G>A (human) PMID:14505228|REF_RGD_ID:1302591 11784316 LGI4 leucine rich repeat LGI family member 4 gene DOID:543 dystonia ISO RGD:1344124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11784316 LGI4 leucine rich repeat LGI family member 4 gene DOID:630 genetic disease ISO RGD:1344124 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25954003|PMID:27618451|PMID:28318499|PMID:28490743|PMID:28492532 11784331 AQP8 aquaporin 8 gene DOID:2316 brain ischemia ISO RGD:2146 D RGD:9068941 20200609 RGD PMID:19616516|REF_RGD_ID:5490152 11784331 AQP8 aquaporin 8 gene DOID:630 genetic disease ISO RGD:737411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784345 CEP83 centrosomal protein 83 gene DOID:0111125 nephronophthisis 18 ISO RGD:1606008 D RGD:7240710 20180130 OMIM 11784345 CEP83 centrosomal protein 83 gene DOID:0111125 nephronophthisis 18 ISO RGD:1606008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis 18 PMID:16199547|PMID:17576681|PMID:23530209|PMID:24882706|PMID:25741868|PMID:28492532|PMID:30655312|PMID:9536098 11784345 CEP83 centrosomal protein 83 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1606008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 11784345 CEP83 centrosomal protein 83 gene DOID:11372 megacolon ISO RGD:1606008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11784345 CEP83 centrosomal protein 83 gene DOID:630 genetic disease ISO RGD:1606008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11784384 FAM3D FAM3 metabolism regulating signaling molecule D gene DOID:5419 schizophrenia ISO RGD:1313583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 11784384 FAM3D FAM3 metabolism regulating signaling molecule D gene DOID:630 genetic disease ISO RGD:1313583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784399 IL26 interleukin 26 gene DOID:630 genetic disease ISO RGD:1346180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784408 RBMX2 RNA binding motif protein X-linked 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11784408 RBMX2 RNA binding motif protein X-linked 2 gene DOID:12849 autistic disorder ISO RGD:1345969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11784408 RBMX2 RNA binding motif protein X-linked 2 gene DOID:630 genetic disease ISO RGD:1345969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784418 SLC34A2 solute carrier family 34 member 2 gene DOID:12117 pulmonary alveolar microlithiasis ISO RGD:733113 D RGD:7240710 20180130 OMIM 11784418 SLC34A2 solute carrier family 34 member 2 gene DOID:12117 pulmonary alveolar microlithiasis ISO RGD:733113 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: PULMONARY ALVEOLAR MICROLITHIASIS PMID:11287838|PMID:16960801|PMID:24033266|PMID:25741868|PMID:28492532 11784418 SLC34A2 solute carrier family 34 member 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22617245|PMID:22919003 11784418 SLC34A2 solute carrier family 34 member 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11784418 SLC34A2 solute carrier family 34 member 2 gene DOID:630 genetic disease ISO RGD:733113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11784418 SLC34A2 solute carrier family 34 member 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:733113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15805072 11784439 AMBN ameloblastin gene DOID:0110065 amelogenesis imperfecta type 1F ISO RGD:736409 D RGD:7240710 20180130 OMIM 11784439 AMBN ameloblastin gene DOID:0110065 amelogenesis imperfecta type 1F ISO RGD:736409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1F PMID:24858907|PMID:25741868|PMID:26502894|PMID:28492532 11784439 AMBN ameloblastin gene DOID:630 genetic disease ISO RGD:736409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784439 AMBN ameloblastin gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:736409 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11784456 FHL5 four and a half LIM domains 5 gene DOID:630 genetic disease ISO RGD:1316022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784456 FHL5 four and a half LIM domains 5 gene DOID:6364 migraine ISO RGD:1316022 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23793025 11784474 HELQ helicase, POLQ like gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1605893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 11784474 HELQ helicase, POLQ like gene DOID:630 genetic disease ISO RGD:1605893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784520 RPE65 retinoid isomerohydrolase RPE65 gene DOID:0050572 cone-rod dystrophy ISO RGD:732416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 11784520 RPE65 retinoid isomerohydrolase RPE65 gene DOID:0080150 adrenocorticotropic hormone deficiency ISO RGD:732416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ACTH deficiency PMID:18632300|PMID:25741868|PMID:28492532|PMID:30576320|PMID:31273949|PMID:31630094|PMID:9326941|PMID:9501220|PMID:9843205 11784520 RPE65 retinoid isomerohydrolase RPE65 gene DOID:0110016 Leber congenital amaurosis 2 ISO RGD:732416 D RGD:7240710 20180130 OMIM 11784520 RPE65 retinoid isomerohydrolase RPE65 gene DOID:0110016 Leber congenital amaurosis 2 ISO RGD:732416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER II | ClinVar Annotator: match by term: Leber congenital amaurosis 2 PMID:10090910|PMID:10766140|PMID:10937591|PMID:11035546|PMID:11095629|PMID:11264131|PMID:11295838|PMID:11462243|PMID:11786058|PMID:12960219|PMID:13616783|PMID:14962443|PMID:14971589|PMID:15024725|PMID:15512997|PMID:15557452|PMID:15837919|PMID:16096063|PMID:16123401|PMID:16123440|PMID:16150724|PMID:16199547|PMID:16205573|PMID:16754667|PMID:16828753|PMID:17197551|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055820|PMID:18441371|PMID:18484312|PMID:18539930|PMID:18599565|PMID:18632300|PMID:18682808|PMID:18722466|PMID:19117922|PMID:19431183|PMID:19753312|PMID:19854499|PMID:19920137|PMID:19959640|PMID:20043869|PMID:20079931|PMID:20604683|PMID:20683928|PMID:20801516|PMID:20811047|PMID:21151602|PMID:21153841|PMID:21211845|PMID:21602930|PMID:21654732|PMID:21911650|PMID:22164218|PMID:22334370|PMID:22509104|PMID:23591405|PMID:23661368|PMID:23661369|PMID:23878505|PMID:24066033|PMID:24265693|PMID:24849605|PMID:24997176|PMID:25097241|PMID:25257057|PMID:25356976|PMID:25383945|PMID:25495949|PMID:25525159|PMID:25741868|PMID:25752820|PMID:25972377|PMID:26024124|PMID:26047050|PMID:26147992|PMID:26306921|PMID:26355662|PMID:26364624|PMID:26427455|PMID:26605849|PMID:26626312|PMID:26656277|PMID:26667666|PMID:26906952|PMID:27102010|PMID:27208204|PMID:27307694|PMID:27535533|PMID:27874104|PMID:28041643|PMID:28041994|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28393863|PMID:28492532|PMID:28559085|PMID:28714225|PMID:28838317|PMID:28945494|PMID:29033008|PMID:29068479|PMID:29178642|PMID:29186038|PMID:29332120|PMID:29641573|PMID:29659842|PMID:29681726|PMID:29785639|PMID:29947567|PMID:30025081|PMID:30268864|PMID:30576320|PMID:30628748|PMID:30653986|PMID:30718709|PMID:30870047|PMID:30924848|PMID:30996589|PMID:31054281|PMID:31174678|PMID:31273949|PMID:31379919|PMID:31456290|PMID:31630094|PMID:31725702|PMID:31736247|PMID:31878136|PMID:31957135|PMID:31960602|PMID:32037395|PMID:32165824|PMID:32347917|PMID:32367544|PMID:32581362|PMID:32865313|PMID:33090715|PMID:33308271|PMID:33472769|PMID:33494148|PMID:33576794|PMID:33952291|PMID:34492281|PMID:35129589|PMID:4492281|PMID:9326927|PMID:9326941|PMID:9501220|PMID:9536098|PMID:9801879|PMID:9843205 11784520 RPE65 retinoid isomerohydrolase RPE65 gene DOID:0110016 Leber congenital amaurosis 2 treatment ISO RGD:732416 D RGD:9068941 20200609 RGD human gene in mouse model PMID:16505056|REF_RGD_ID:9495919 11784520 RPE65 retinoid isomerohydrolase RPE65 gene DOID:0110353 retinitis pigmentosa 20 ISO RGD:732416 D RGD:7240710 20180130 OMIM 11784520 RPE65 retinoid isomerohydrolase RPE65 gene DOID:0110353 retinitis pigmentosa 20 ISO RGD:732416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 20 PMID:10766140|PMID:10937591|PMID:11035546|PMID:11095629|PMID:11462243|PMID:11786058|PMID:12960219|PMID:13616783|PMID:15024725|PMID:15512997|PMID:15557452|PMID:16150724|PMID:16199547|PMID:16205573|PMID:16754667|PMID:16828753|PMID:17576681|PMID:17724218|PMID:18055820|PMID:18441371|PMID:18539930|PMID:18632300|PMID:18682808|PMID:18722466|PMID:19117922|PMID:19431183|PMID:19753312|PMID:19854499|PMID:20079931|PMID:20683928|PMID:21153841|PMID:21211845|PMID:21654732|PMID:24066033|PMID:24265693|PMID:24849605|PMID:25257057|PMID:25741868|PMID:25752820|PMID:26355662|PMID:26605849|PMID:26626312|PMID:26906952|PMID:27307694|PMID:27535533|PMID:27874104|PMID:28041643|PMID:28041994|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29186038|PMID:29332120|PMID:29659842|PMID:29681726|PMID:29947567|PMID:30268864|PMID:30576320|PMID:30628748|PMID:30718709|PMID:31273949|PMID:31379919|PMID:31630094|PMID:31878136|PMID:31957135|PMID:32037395|PMID:32367544|PMID:35129589|PMID:4492281|PMID:9326927|PMID:9326941|PMID:9501220|PMID:9536098|PMID:9843205 11784520 RPE65 retinoid isomerohydrolase RPE65 gene DOID:0111004 Joubert syndrome 9 ISO RGD:732416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 9 PMID:10766140|PMID:16123440|PMID:19431183|PMID:24265693|PMID:25741868|PMID:28492532 11784520 RPE65 retinoid isomerohydrolase RPE65 gene DOID:0111021 cone-rod dystrophy 15 ISO RGD:732416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 15 PMID:25741868|PMID:28492532 11784520 RPE65 retinoid isomerohydrolase RPE65 gene DOID:0112144 retinitis pigmentosa 87 ISO RGD:732416 D RGD:7240710 20200101 OMIM 11784520 RPE65 retinoid isomerohydrolase RPE65 gene DOID:0112144 retinitis pigmentosa 87 ISO RGD:732416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 87 with choroidal involvement PMID:21654732|PMID:25741868|PMID:27307694|PMID:28041994|PMID:28492532|PMID:29659842|PMID:29947567|PMID:30628748|PMID:31379919 11784520 RPE65 retinoid isomerohydrolase RPE65 gene DOID:10584 retinitis pigmentosa ISO RGD:732416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10090910|PMID:10766140|PMID:10937591|PMID:11095629|PMID:11462243|PMID:11786058|PMID:12960219|PMID:13616783|PMID:14971589|PMID:15024725|PMID:15557452|PMID:16123440|PMID:16150724|PMID:16754667|PMID:17197551|PMID:17964524|PMID:18539930|PMID:18599565|PMID:18632300|PMID:18682808|PMID:18722466|PMID:19117922|PMID:19431183|PMID:19753312|PMID:19920137|PMID:20079931|PMID:20683928|PMID:20811047|PMID:21153841|PMID:21602930|PMID:23105016|PMID:23591405|PMID:24265693|PMID:24849605|PMID:25257057|PMID:25356976|PMID:25525159|PMID:25741868|PMID:25752820|PMID:25972377|PMID:26047050|PMID:26306921|PMID:26355662|PMID:26626312|PMID:26656277|PMID:26906952|PMID:27102010|PMID:27874104|PMID:28041643|PMID:28492532|PMID:29332120|PMID:29681726|PMID:29785639|PMID:30268864|PMID:30576320|PMID:30718709|PMID:30870047|PMID:31273949|PMID:31630094|PMID:31725702|PMID:32581362|PMID:33576794|PMID:9326941|PMID:9501220|PMID:9843205 11784520 RPE65 retinoid isomerohydrolase RPE65 gene DOID:10584 retinitis pigmentosa treatment ISO RGD:732417 D RGD:9068941 20200609 RGD PMID:20164818|REF_RGD_ID:9585645 11784520 RPE65 retinoid isomerohydrolase RPE65 gene DOID:1059 intellectual disability ISO RGD:732416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11784520 RPE65 retinoid isomerohydrolase RPE65 gene DOID:12849 autistic disorder ISO RGD:732416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:32581362 11784520 RPE65 retinoid isomerohydrolase RPE65 gene DOID:1432 blindness ISO RGD:732416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16150724|PMID:16226919 11784520 RPE65 retinoid isomerohydrolase RPE65 gene DOID:14791 Leber congenital amaurosis ISO RGD:732416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis PMID:10090910|PMID:10766140|PMID:10937591|PMID:11035546|PMID:11095629|PMID:11264131|PMID:11462243|PMID:11786058|PMID:12960219|PMID:13616783|PMID:15024725|PMID:15512997|PMID:15557452|PMID:16123401|PMID:16123440|PMID:16150724|PMID:16199547|PMID:16205573|PMID:16754667|PMID:16828753|PMID:17197551|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055820|PMID:18441371|PMID:18539930|PMID:18599565|PMID:18632300|PMID:18682808|PMID:19117922|PMID:19431183|PMID:19753312|PMID:19854499|PMID:19920137|PMID:19959640|PMID:20079931|PMID:20604683|PMID:20683928|PMID:20801516|PMID:20811047|PMID:21151602|PMID:21153841|PMID:21211845|PMID:21602930|PMID:21911650|PMID:22334370|PMID:23591405|PMID:23661369|PMID:24066033|PMID:24265693|PMID:24849605|PMID:24997176|PMID:25097241|PMID:25257057|PMID:25356976|PMID:25495949|PMID:25525159|PMID:25741868|PMID:25752820|PMID:25972377|PMID:26024124|PMID:26047050|PMID:26355662|PMID:26364624|PMID:26427455|PMID:26605849|PMID:26626312|PMID:26656277|PMID:26906952|PMID:27535533|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28492532|PMID:28714225|PMID:29033008|PMID:29332120|PMID:29681726|PMID:29785639|PMID:30025081|PMID:30268864|PMID:30653986|PMID:30718709|PMID:30870047|PMID:30924848|PMID:30996589|PMID:31273949|PMID:31456290|PMID:31736247|PMID:32037395|PMID:32165824|PMID:32347917|PMID:32581362|PMID:32865313|PMID:33308271|PMID:33472769|PMID:33494148|PMID:34492281|PMID:35129589|PMID:9326927|PMID:9326941|PMID:9501220|PMID:9536098|PMID:9801879|PMID:9843205 11784520 RPE65 retinoid isomerohydrolase RPE65 gene DOID:1749 squamous cell carcinoma ISO RGD:732416 D RGD:9068941 20200609 RGD mRNA:decreased expression:skin (human) PMID:16181461|REF_RGD_ID:9495923 11784520 RPE65 retinoid isomerohydrolase RPE65 gene DOID:2513 basal cell carcinoma ISO RGD:732416 D RGD:9068941 20200609 RGD mRNA:increased expression:skin (human) PMID:16181461|REF_RGD_ID:9495923 11784520 RPE65 retinoid isomerohydrolase RPE65 gene DOID:630 genetic disease ISO RGD:732416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11784520 RPE65 retinoid isomerohydrolase RPE65 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:732416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16828753|PMID:17011878 11784520 RPE65 retinoid isomerohydrolase RPE65 gene DOID:8466 retinal degeneration ISO RGD:732416 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:16199547|PMID:18632300|PMID:25741868|PMID:28492532|PMID:32367544|PMID:9326941|PMID:9501220|PMID:9843205 11784520 RPE65 retinoid isomerohydrolase RPE65 gene DOID:8501 fundus dystrophy ISO RGD:732416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10766140|PMID:10937591|PMID:11095629|PMID:11462243|PMID:11786058|PMID:12960219|PMID:15024725|PMID:16150724|PMID:16199547|PMID:16205573|PMID:16754667|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18599565|PMID:18632300|PMID:18682808|PMID:19117922|PMID:19431183|PMID:19854499|PMID:19959640|PMID:20043869|PMID:20604683|PMID:20683928|PMID:21151602|PMID:21153841|PMID:21211845|PMID:21654732|PMID:21911650|PMID:24849605|PMID:24997176|PMID:25257057|PMID:25525159|PMID:25741868|PMID:25752820|PMID:25972377|PMID:26024124|PMID:26427455|PMID:26626312|PMID:26906952|PMID:27307694|PMID:27874104|PMID:28041643|PMID:28041994|PMID:28224992|PMID:28492532|PMID:29332120|PMID:29659842|PMID:29785639|PMID:29947567|PMID:30268864|PMID:30628748|PMID:30718709|PMID:31379919|PMID:31456290|PMID:31630094|PMID:31736247|PMID:32037395|PMID:32165824|PMID:32581362|PMID:33494148|PMID:35129589|PMID:9326941|PMID:9501220|PMID:9536098|PMID:9843205 11784520 RPE65 retinoid isomerohydrolase RPE65 gene DOID:9002525 Hereditary Eye Diseases ISO RGD:732416 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16968212 11784520 RPE65 retinoid isomerohydrolase RPE65 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732416 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:21654732|PMID:25741868|PMID:27307694|PMID:28041994|PMID:28492532|PMID:29659842|PMID:29947567|PMID:30628748|PMID:31379919 11784520 RPE65 retinoid isomerohydrolase RPE65 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621396 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina (rat) PMID:21862641|REF_RGD_ID:9585653 11784520 RPE65 retinoid isomerohydrolase RPE65 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:732416 D RGD:9068941 20200609 RGD human peptides in a rat model PMID:16109648|REF_RGD_ID:9585652 11784520 RPE65 retinoid isomerohydrolase RPE65 gene DOID:9008296 Eye Abnormalities ISO RGD:732416 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:10766140|PMID:10937591|PMID:11095629|PMID:16754667|PMID:18682808|PMID:19117922|PMID:19431183|PMID:21153841|PMID:25741868|PMID:25752820|PMID:26626312|PMID:27874104|PMID:28492532|PMID:30718709|PMID:9501220 11784520 RPE65 retinoid isomerohydrolase RPE65 gene DOID:9649 congenital nystagmus ISO RGD:732416 D RGD:9068941 20210813 CTD CTD Direct Evidence: marker/mechanism PMID:32971638 11784539 BCAT2 branched chain amino acid transaminase 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:69002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11784539 BCAT2 branched chain amino acid transaminase 2 gene DOID:630 genetic disease ISO RGD:69002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11784539 BCAT2 branched chain amino acid transaminase 2 gene DOID:9000861 HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA ISO RGD:69002 D RGD:7240710 20200715 OMIM 11784539 BCAT2 branched chain amino acid transaminase 2 gene DOID:9000861 HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA ISO RGD:69002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypervalinemia and hyperleucine-isoleucinemia PMID:25653144 11784539 BCAT2 branched chain amino acid transaminase 2 gene DOID:9269 maple syrup urine disease ISO RGD:69002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14755340 11784539 BCAT2 branched chain amino acid transaminase 2 gene DOID:9269 maple syrup urine disease ISO RGD:69003 D RGD:9068941 20200609 RGD PMID:14755340|REF_RGD_ID:1300291 11784539 BCAT2 branched chain amino acid transaminase 2 gene DOID:9269 maple syrup urine disease ISO RGD:69003 D RGD:9068941 20220825 MouseDO OMIM:246900 | OMIM:248600 | OMIM:615135 11784611 SMIM29 small integral membrane protein 29 gene DOID:0050553 JMP syndrome ISO RGD:1605841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11784621 PLSCR3 phospholipid scramblase 3 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1315960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11784621 PLSCR3 phospholipid scramblase 3 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1315960 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11784621 PLSCR3 phospholipid scramblase 3 gene DOID:1059 intellectual disability ISO RGD:1315960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11784621 PLSCR3 phospholipid scramblase 3 gene DOID:12177 common variable immunodeficiency ISO RGD:1315960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11784621 PLSCR3 phospholipid scramblase 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1315960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11784621 PLSCR3 phospholipid scramblase 3 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1315960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11784621 PLSCR3 phospholipid scramblase 3 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1315960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 11784621 PLSCR3 phospholipid scramblase 3 gene DOID:630 genetic disease ISO RGD:1315960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784621 PLSCR3 phospholipid scramblase 3 gene DOID:9970 obesity ISO RGD:1315961 D RGD:9068941 20220825 MouseDO OMIM:601665 11784633 HGS hepatocyte growth factor-regulated tyrosine kinase substrate gene DOID:630 genetic disease ISO RGD:733649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784673 DARS1 aspartyl-tRNA synthetase 1 gene DOID:0060591 WHIM syndrome 1 ISO RGD:732389 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:28492532 11784673 DARS1 aspartyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:732389 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784673 DARS1 aspartyl-tRNA synthetase 1 gene DOID:9006484 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity ISO RGD:732389 D RGD:7240710 20180130 OMIM 11784673 DARS1 aspartyl-tRNA synthetase 1 gene DOID:9006484 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity ISO RGD:732389 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ASPARTYL-tRNA SYNTHETASE DEFICIENCY | ClinVar Annotator: match by term: Hypomyelination with brainstem and spinal cord involvement and leg spasticity PMID:23643384|PMID:25527264|PMID:25741868|PMID:28492532 11784693 PRELID2 PRELI domain containing 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606141 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11784693 PRELID2 PRELI domain containing 2 gene DOID:630 genetic disease ISO RGD:1606141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784693 PRELID2 PRELI domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11784693 PRELID2 PRELI domain containing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 11784693 PRELID2 PRELI domain containing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606141 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11784706 SPRR2G small proline rich protein 2G gene DOID:0111940 immunodeficiency 42 ISO RGD:1347541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11784706 SPRR2G small proline rich protein 2G gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1347541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11784706 SPRR2G small proline rich protein 2G gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1347541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11784706 SPRR2G small proline rich protein 2G gene DOID:1540 parathyroid carcinoma ISO RGD:1347541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11784706 SPRR2G small proline rich protein 2G gene DOID:5812 MHC class II deficiency ISO RGD:1347541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11784706 SPRR2G small proline rich protein 2G gene DOID:630 genetic disease ISO RGD:1347541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784706 SPRR2G small proline rich protein 2G gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11784712 TMPRSS7 transmembrane serine protease 7 gene DOID:303 substance-related disorder ISO RGD:1312220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11784712 TMPRSS7 transmembrane serine protease 7 gene DOID:630 genetic disease ISO RGD:1312220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784733 GOT1L1 glutamic-oxaloacetic transaminase 1 like 1 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1602185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 11784733 GOT1L1 glutamic-oxaloacetic transaminase 1 like 1 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1602185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 11784733 GOT1L1 glutamic-oxaloacetic transaminase 1 like 1 gene DOID:607 paraplegia ISO RGD:1602185 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11784733 GOT1L1 glutamic-oxaloacetic transaminase 1 like 1 gene DOID:630 genetic disease ISO RGD:1602185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784747 ATF7IP activating transcription factor 7 interacting protein gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1314412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 11784747 ATF7IP activating transcription factor 7 interacting protein gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1314412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 11784747 ATF7IP activating transcription factor 7 interacting protein gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1314412 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413735 11784747 ATF7IP activating transcription factor 7 interacting protein gene DOID:630 genetic disease ISO RGD:1314412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784747 ATF7IP activating transcription factor 7 interacting protein gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1314412 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20543847 11784747 ATF7IP activating transcription factor 7 interacting protein gene DOID:9004207 Testicular Neoplasms ISO RGD:1314412 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20543847 11784781 ATG101 autophagy related 101 gene DOID:219 colon cancer disease_progression ISO RGD:1602213 D RGD:9068941 20220908 RGD PMID:34315829|REF_RGD_ID:153350092 11784781 ATG101 autophagy related 101 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1602213 D RGD:9068941 20220908 RGD PMID:35592424|REF_RGD_ID:153350091 11784781 ATG101 autophagy related 101 gene DOID:630 genetic disease ISO RGD:1602213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784781 ATG101 autophagy related 101 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1602213 D RGD:9068941 20220908 RGD PMID:35592424|REF_RGD_ID:153350091 11784781 ATG101 autophagy related 101 gene DOID:9005172 Lung Neoplasms ISO RGD:1602213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 11784795 DMTF1 cyclin D binding myb like transcription factor 1 gene DOID:1826 epilepsy ISO RGD:736177 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 11784795 DMTF1 cyclin D binding myb like transcription factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11784795 DMTF1 cyclin D binding myb like transcription factor 1 gene DOID:630 genetic disease ISO RGD:736177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784836 RBPMS RNA binding protein, mRNA processing factor gene DOID:630 genetic disease ISO RGD:1342648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784867 CHST1 carbohydrate sulfotransferase 1 gene DOID:1059 intellectual disability ISO RGD:1317743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11784867 CHST1 carbohydrate sulfotransferase 1 gene DOID:630 genetic disease ISO RGD:1317743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784875 FBLN7 fibulin 7 gene DOID:630 genetic disease ISO RGD:1601826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784888 N6AMT1 N-6 adenine-specific DNA methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1323512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784910 EPS8 epidermal growth factor receptor pathway substrate 8 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1321587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:25741868|PMID:30303587 11784910 EPS8 epidermal growth factor receptor pathway substrate 8 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1321587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 11784910 EPS8 epidermal growth factor receptor pathway substrate 8 gene DOID:0080261 autosomal recessive nonsyndromic deafness 106 ISO RGD:1321587 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 106 PMID:25741868|PMID:28492532 11784910 EPS8 epidermal growth factor receptor pathway substrate 8 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1321587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 11784910 EPS8 epidermal growth factor receptor pathway substrate 8 gene DOID:0080600 COVID-19 ISO RGD:1321587 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11784910 EPS8 epidermal growth factor receptor pathway substrate 8 gene DOID:0110463 autosomal recessive nonsyndromic deafness 102 ISO RGD:1321587 D RGD:7240710 20180130 OMIM 11784910 EPS8 epidermal growth factor receptor pathway substrate 8 gene DOID:0110463 autosomal recessive nonsyndromic deafness 102 ISO RGD:1321587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 102 PMID:24033266|PMID:24741995|PMID:25741868|PMID:28492532|PMID:30303587 11784910 EPS8 epidermal growth factor receptor pathway substrate 8 gene DOID:630 genetic disease ISO RGD:1321587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 11784910 EPS8 epidermal growth factor receptor pathway substrate 8 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1321587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19799886 11784910 EPS8 epidermal growth factor receptor pathway substrate 8 gene DOID:9008681 Deafness ISO RGD:1321587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness PMID:24033266|PMID:25741868|PMID:28492532|PMID:30303587 11784940 YES1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:0080600 COVID-19 ISO RGD:1321347 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11784940 YES1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:12849 autistic disorder ISO RGD:1321347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11784940 YES1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:1657 ventricular septal defect ISO RGD:1321347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478334 11784940 YES1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:630 genetic disease ISO RGD:1321347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784940 YES1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:6406 double outlet right ventricle ISO RGD:1321347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478334 11784940 YES1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:9003191 Vascular Malformations ISO RGD:1321347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478334 11784940 YES1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11784940 YES1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:9007023 Prenatal Injuries ISO RGD:1321347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478334 11784940 YES1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1550106 D RGD:9068941 20230429 RGD mRNA,protein:increased expression:myocardium (mouse) PMID:30259997|REF_RGD_ID:329337366 11784957 SOX1 SRY-box transcription factor 1 gene DOID:2222 factor X deficiency ISO RGD:1348976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 11784957 SOX1 SRY-box transcription factor 1 gene DOID:630 genetic disease ISO RGD:1348976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784962 PAQR3 progestin and adipoQ receptor family member 3 gene DOID:630 genetic disease ISO RGD:1321322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784962 PAQR3 progestin and adipoQ receptor family member 3 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1321322 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11784976 VSIG10L V-set and immunoglobulin domain containing 10 like gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:3440350 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:16510302|PMID:23785301|PMID:28492532 11784976 VSIG10L V-set and immunoglobulin domain containing 10 like gene DOID:0080600 COVID-19 ISO RGD:3440350 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11784976 VSIG10L V-set and immunoglobulin domain containing 10 like gene DOID:630 genetic disease ISO RGD:3440350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784990 BRI3BP BRI3 binding protein gene DOID:630 genetic disease ISO RGD:1348808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11784996 ZNF860 zinc finger protein 860 gene DOID:630 genetic disease ISO RGD:2301111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11785002 EYA3 EYA transcriptional coactivator and phosphatase 3 gene DOID:630 genetic disease ISO RGD:1320540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11785030 LOC100984344 calpain-3 gene DOID:0050557 congenital muscular dystrophy ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17318636|PMID:17702496|PMID:20635405|PMID:21204801|PMID:21984748|PMID:25135358|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:28492532|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 11785030 LOC100984344 calpain-3 gene DOID:0080000 muscular disease ISO RGD:731876 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17318636|PMID:17702496|PMID:20635405|PMID:21204801|PMID:21984748|PMID:25135358|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:28492532|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 11785030 LOC100984344 calpain-3 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:731876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:10330340|PMID:10679950|PMID:11053681|PMID:11166169|PMID:11297944|PMID:11371436|PMID:12461690|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:15733273|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16627476|PMID:16650086|PMID:16971480|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17562833|PMID:17702496|PMID:17994539|PMID:18055493|PMID:18258189|PMID:18334579|PMID:18337726|PMID:18414213|PMID:18563459|PMID:18854868|PMID:18854869|PMID:19015733|PMID:19226146|PMID:19285864|PMID:19556129|PMID:19835634|PMID:20517216|PMID:20635405|PMID:20694146|PMID:21204801|PMID:21984748|PMID:22378277|PMID:22443334|PMID:22926650|PMID:23169433|PMID:24033266|PMID:24715573|PMID:24803842|PMID:25046369|PMID:25079074|PMID:25135358|PMID:25252031|PMID:25741868|PMID:26301378|PMID:26363099|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26632398|PMID:26810512|PMID:26886200|PMID:27023906|PMID:27055500|PMID:27066551|PMID:27066573|PMID:27142102|PMID:27431290|PMID:27447704|PMID:27558075|PMID:27708273|PMID:28403181|PMID:28492532|PMID:28914264|PMID:30028523|PMID:30564623|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31555977|PMID:31788660|PMID:31862442|PMID:31931849|PMID:32342993|PMID:32403337|PMID:32528171|PMID:32557990|PMID:3258171|PMID:32668095|PMID:32896923|PMID:33250842|PMID:33337384|PMID:34355366|PMID:34440373|PMID:34720847|PMID:35309930|PMID:7720071|PMID:9150160|PMID:9266733|PMID:9642272|PMID:9762961 11785030 LOC100984344 calpain-3 gene DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A ISO RGD:731876 D RGD:7240710 20180130 OMIM 11785030 LOC100984344 calpain-3 gene DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A ISO RGD:731876 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2A | ClinVar Annotator: match by term: Leyden-Moebius muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A PMID:10102422|PMID:10330340|PMID:10567047|PMID:10679950|PMID:11053681|PMID:11166169|PMID:11245732|PMID:11297944|PMID:11371436|PMID:11525884|PMID:11731278|PMID:12461690|PMID:12890817|PMID:14578192|PMID:14645990|PMID:14959561|PMID:14981715|PMID:15138196|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:15733273|PMID:15843148|PMID:15884399|PMID:16001438|PMID:16100770|PMID:16141003|PMID:16199547|PMID:16372320|PMID:16411092|PMID:16542520|PMID:16607617|PMID:16627476|PMID:16650086|PMID:16816913|PMID:1691480|PMID:16971480|PMID:17157502|PMID:17236769|PMID:17258832|PMID:17318636|PMID:17526799|PMID:17562833|PMID:17576681|PMID:17594342|PMID:17596655|PMID:17702496|PMID:17897828|PMID:17979987|PMID:17994539|PMID:18055493|PMID:18073330|PMID:18258189|PMID:18334579|PMID:18337726|PMID:18414213|PMID:18563459|PMID:18854868|PMID:18854869|PMID:19015733|PMID:19048948|PMID:19156839|PMID:19226146|PMID:19285864|PMID:19364062|PMID:19556129|PMID:19763152|PMID:19835634|PMID:20044116|PMID:20307669|PMID:20477750|PMID:205172126|PMID:20517216|PMID:20580976|PMID:20635405|PMID:20686710|PMID:20694146|PMID:21172462|PMID:21204801|PMID:21288883|PMID:21386772|PMID:21520333|PMID:21624972|PMID:21896784|PMID:21984748|PMID:22006685|PMID:22057634|PMID:22079131|PMID:22158424|PMID:22378277|PMID:22406018|PMID:22443334|PMID:22486197|PMID:22505582|PMID:22926650|PMID:23169433|PMID:23553538|PMID:23597518|PMID:23666804|PMID:23677060|PMID:23757202|PMID:23821418|PMID:24033266|PMID:24715573|PMID:24803842|PMID:24846670|PMID:25046369|PMID:25079074|PMID:25135358|PMID:25214167|PMID:25215589|PMID:25252031|PMID:25326637|PMID:25512505|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25783436|PMID:25987458|PMID:26060040|PMID:26301378|PMID:26363099|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26501342|PMID:26583491|PMID:26632398|PMID:26677118|PMID:26810512|PMID:26886200|PMID:27011640|PMID:27020652|PMID:27023906|PMID:27055500|PMID:27066545|PMID:27066551|PMID:27066573|PMID:27081656|PMID:27142102|PMID:27234031|PMID:27259757|PMID:27262448|PMID:27363342|PMID:27431290|PMID:27447704|PMID:27500519|PMID:27558075|PMID:27671536|PMID:27708273|PMID:27818383|PMID:27854218|PMID:27884173|PMID:28103310|PMID:28300015|PMID:28403181|PMID:28492532|PMID:28602176|PMID:28877744|PMID:28881388|PMID:28914264|PMID:28915917|PMID:29149851|PMID:29685414|PMID:29797799|PMID:29970176|PMID:30028523|PMID:30056071|PMID:30107846|PMID:30538847|PMID:30564623|PMID:30919934|PMID:31066050|PMID:31127727|PMID:31130284|PMID:31263448|PMID:31268554|PMID:31410652|PMID:31517061|PMID:31555977|PMID:31671740|PMID:31788660|PMID:31862442|PMID:31931849|PMID:31937337|PMID:32140910|PMID:32342993|PMID:32403337|PMID:32528171|PMID:32557990|PMID:32576226|PMID:3258171|PMID:32668095|PMID:32896923|PMID:32994280|PMID:33250842|PMID:33335567|PMID:33337384|PMID:34008892|PMID:34355366|PMID:34440373|PMID:34602496|PMID:34697879|PMID:34720847|PMID:35169782|PMID:35309930|PMID:7318636|PMID:7720071|PMID:7762565|PMID:7795603|PMID:8624690|PMID:9150160|PMID:9246005|PMID:9266733|PMID:9452114|PMID:9536098|PMID:9642272|PMID:9655129|PMID:9762961|PMID:9771675|PMID:9777948 11785030 LOC100984344 calpain-3 gene DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B PMID:25741868|PMID:31263448 11785030 LOC100984344 calpain-3 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17702496|PMID:17979987|PMID:18055493|PMID:20635405|PMID:21204801|PMID:21984748|PMID:24803842|PMID:25135358|PMID:25741868|PMID:26301378|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:27708273|PMID:27884173|PMID:28492532|PMID:28877744|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 11785030 LOC100984344 calpain-3 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:731876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:11371436|PMID:15221789|PMID:16141003|PMID:18854869|PMID:19226146|PMID:20635405|PMID:25046369|PMID:25741868|PMID:26404900|PMID:26467025|PMID:28492532 11785030 LOC100984344 calpain-3 gene DOID:2717 Bloom syndrome ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11785030 LOC100984344 calpain-3 gene DOID:318 progressive muscular atrophy ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive spinal muscular atrophy PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17702496|PMID:17979987|PMID:18055493|PMID:20635405|PMID:21204801|PMID:21984748|PMID:24803842|PMID:25135358|PMID:25741868|PMID:26301378|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:27708273|PMID:27884173|PMID:28492532|PMID:28877744|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 11785030 LOC100984344 calpain-3 gene DOID:423 myopathy ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17318636|PMID:17702496|PMID:20635405|PMID:21204801|PMID:21984748|PMID:25135358|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:28492532|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 11785030 LOC100984344 calpain-3 gene DOID:630 genetic disease ISO RGD:731876 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:35169782 11785030 LOC100984344 calpain-3 gene DOID:6364 migraine ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Migraine Disorders PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17702496|PMID:17979987|PMID:18055493|PMID:20635405|PMID:21204801|PMID:21984748|PMID:24803842|PMID:25135358|PMID:25741868|PMID:26301378|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:27708273|PMID:27884173|PMID:28492532|PMID:28877744|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 11785030 LOC100984344 calpain-3 gene DOID:684 hepatocellular carcinoma ISO RGD:2269 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle PMID:10806331|REF_RGD_ID:1600777 11785030 LOC100984344 calpain-3 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:15733273|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17236769|PMID:17318636|PMID:17702496|PMID:20635405|PMID:21204801|PMID:21984748|PMID:25135358|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26501342|PMID:27142102|PMID:28492532|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 11785030 LOC100984344 calpain-3 gene DOID:9003242 Paresthesia ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paresthesia PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17702496|PMID:17979987|PMID:18055493|PMID:20635405|PMID:21204801|PMID:21984748|PMID:24803842|PMID:25135358|PMID:25741868|PMID:26301378|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:27708273|PMID:27884173|PMID:28492532|PMID:28877744|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 11785030 LOC100984344 calpain-3 gene DOID:9003997 Familial Idiopathic Inflammatory Myopathy ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial idiopathic inflammatory myopathy PMID:25741868|PMID:28492532 11785030 LOC100984344 calpain-3 gene DOID:9005532 Muscle Weakness ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:15733273|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17236769|PMID:17318636|PMID:17702496|PMID:20635405|PMID:21204801|PMID:21984748|PMID:25135358|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26501342|PMID:27142102|PMID:28492532|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 11785030 LOC100984344 calpain-3 gene DOID:9006843 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 ISO RGD:731876 D RGD:7240710 20190911 OMIM 11785030 LOC100984344 calpain-3 gene DOID:9006843 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 ISO RGD:731876 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1I | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal dominant 4 PMID:10102422|PMID:10330340|PMID:10679950|PMID:11371436|PMID:12461690|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16542520|PMID:16627476|PMID:16650086|PMID:16971480|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17526799|PMID:17576681|PMID:17702496|PMID:17897828|PMID:17979987|PMID:17994539|PMID:18055493|PMID:18258189|PMID:18334579|PMID:18337726|PMID:18414213|PMID:18563459|PMID:18854869|PMID:19015733|PMID:19048948|PMID:19156839|PMID:19226146|PMID:19556129|PMID:19835634|PMID:20044116|PMID:20517216|PMID:20635405|PMID:20694146|PMID:21204801|PMID:21984748|PMID:22006685|PMID:22378277|PMID:22443334|PMID:24033266|PMID:25079074|PMID:25135358|PMID:25252031|PMID:25326637|PMID:25512505|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26632398|PMID:26677118|PMID:26886200|PMID:27055500|PMID:27066545|PMID:27066551|PMID:27142102|PMID:27234031|PMID:27259757|PMID:27363342|PMID:27447704|PMID:27708273|PMID:27818383|PMID:27884173|PMID:28492532|PMID:28602176|PMID:28881388|PMID:28914264|PMID:30028523|PMID:30564623|PMID:30919934|PMID:31066050|PMID:31263448|PMID:31517061|PMID:31788660|PMID:31931849|PMID:32403337|PMID:32528171|PMID:3258171|PMID:32668095|PMID:34440373|PMID:34720847|PMID:7720071|PMID:8624690|PMID:9150160|PMID:9266733|PMID:9536098|PMID:9642272|PMID:9762961|PMID:9777948 11785030 LOC100984344 calpain-3 gene DOID:9007114 Mobility Limitation ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Difficulty walking PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17702496|PMID:17979987|PMID:18055493|PMID:20635405|PMID:21204801|PMID:21984748|PMID:24803842|PMID:25135358|PMID:25741868|PMID:26301378|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:27708273|PMID:27884173|PMID:28492532|PMID:28877744|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 11785030 LOC100984344 calpain-3 gene DOID:9256 colorectal cancer ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:28492532 11785030 LOC100984344 calpain-3 gene DOID:9884 muscular dystrophy ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:15733273|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17236769|PMID:17318636|PMID:17702496|PMID:20635405|PMID:21204801|PMID:21984748|PMID:25135358|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26501342|PMID:27142102|PMID:28492532|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 11785030 LOC100984344 calpain-3 gene DOID:9884 muscular dystrophy susceptibility ISO RGD:731876 D RGD:9068941 20200609 RGD Muscular Dystrophies, Limb-Girdle, type 2A, OMIM:114240;DNA:mutations PMID:9150160|REF_RGD_ID:1600769 11785086 SENP1 SUMO specific peptidase 1 gene DOID:2349 arteriosclerosis ISO RGD:1321080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 11785086 SENP1 SUMO specific peptidase 1 gene DOID:865 vasculitis ISO RGD:1321080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 11785086 SENP1 SUMO specific peptidase 1 gene DOID:9002514 Neointima ISO RGD:1321080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 11785086 SENP1 SUMO specific peptidase 1 gene DOID:9004771 Vascular Remodeling ISO RGD:1321080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 11785086 SENP1 SUMO specific peptidase 1 gene DOID:9006709 Primary Graft Dysfunction ISO RGD:1321080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 11785086 SENP1 SUMO specific peptidase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1321081 D RGD:9068941 20220825 MouseDO OMIM:222100 11785118 ZNF532 zinc finger protein 532 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1323323 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 11785118 ZNF532 zinc finger protein 532 gene DOID:0111988 immunodeficiency 12 ISO RGD:1323323 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 11785118 ZNF532 zinc finger protein 532 gene DOID:12849 autistic disorder ISO RGD:1323323 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 11785118 ZNF532 zinc finger protein 532 gene DOID:630 genetic disease ISO RGD:1323323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11785118 ZNF532 zinc finger protein 532 gene DOID:9775 diastolic heart failure ISO RGD:1551867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:0080855 Parkinsonism ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:19368990|REF_RGD_ID:4891964 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:0081267 graft-versus-host disease severity ISO RGD:1352124 D RGD:9068941 20200609 RGD PMID:17264819|REF_RGD_ID:4892014 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:0110024 age related macular degeneration 12 ISO RGD:1352124 D RGD:7240710 20180130 OMIM 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:10754 otitis media susceptibility ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.T280M (human) PMID:24718616|REF_RGD_ID:9491764 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:10762 portal hypertension ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:21347560|REF_RGD_ID:9491791 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:11382 corneal neovascularization ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:18322241|REF_RGD_ID:9365153 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:11446 sciatic neuropathy ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:20524966|REF_RGD_ID:9354422 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:11446 sciatic neuropathy ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:15341587|REF_RGD_ID:1358720 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:11446 sciatic neuropathy treatment ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:20921832|REF_RGD_ID:9491396 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:11563 retinal vasculitis ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotypes:cds:p.V249I, p.T280M (human) PMID:16799040|REF_RGD_ID:9491394 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:16424189|REF_RGD_ID:4892016 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:1273 respiratory syncytial virus infectious disease severity ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:12941892|REF_RGD_ID:4892018 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:13141 uveitis ISO RGD:620137 D RGD:9068941 20200609 RGD associated with Endotoxemia;mRNA, protein:increased expression:retina PMID:19648777|REF_RGD_ID:4891945 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:1556 arthus reaction ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:23470165|REF_RGD_ID:9068463 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:1679 cystitis ISO RGD:620137 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder urothelium PMID:16651033|REF_RGD_ID:4891972 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:1686 glaucoma ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:24989686|REF_RGD_ID:9384823 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:1824 status epilepticus treatment ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:21481949|REF_RGD_ID:9491789 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:1936 atherosclerosis ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:23887641|REF_RGD_ID:9479739 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:224 transient cerebral ischemia ISO RGD:620137 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:hippocampus PMID:24447880|REF_RGD_ID:9491776 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:2349 arteriosclerosis ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:12600915|REF_RGD_ID:4891900 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:2527 nephrosis ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:19590241|REF_RGD_ID:4891946 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:2841 asthma ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:SNPs: :p.V249I, rs2669849 (human) PMID:17082760|REF_RGD_ID:4891895 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:2841 asthma ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:21037587|REF_RGD_ID:4891882 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:2841 asthma no_association ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.V249I, p.T280M (human) PMID:17505143|REF_RGD_ID:4891904 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:2921 glomerulonephritis ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:10432400|REF_RGD_ID:4892027 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:2921 glomerulonephritis ISO RGD:620137 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:14605272|REF_RGD_ID:4891995 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:3310 atopic dermatitis ISO RGD:1352124 D RGD:9068941 20200609 RGD protein:decreased expression:blood, leukocyte PMID:15131578|REF_RGD_ID:9491761 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:3310 atopic dermatitis ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:24821910|REF_RGD_ID:9491393 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:3612 retinitis ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:24142887|REF_RGD_ID:8661224 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:418 systemic scleroderma ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.V249I, p.T280M (human) PMID:16584113|REF_RGD_ID:4891896 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:418 systemic scleroderma ISO RGD:1352124 D RGD:9068941 20200609 RGD protein:increased expression:lung, skin PMID:15608300|REF_RGD_ID:4891898 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:418 systemic scleroderma ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:23142052|REF_RGD_ID:9479741 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:4448 macular degeneration ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:17652758|REF_RGD_ID:9491385 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:4448 macular degeneration ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.T280M (human) PMID:15944936|REF_RGD_ID:9479078 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:4448 macular degeneration ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V249I (human) PMID:22816662|REF_RGD_ID:9491395 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:4448 macular degeneration ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.V249I, p.T280M (human) PMID:15208270|REF_RGD_ID:9491390 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:4448 macular degeneration no_association ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.T280M (human) PMID:22816662|REF_RGD_ID:9491395 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:4448 macular degeneration no_association ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.V249I, p.T280M (rs3732379, rs3732378) (human) PMID:25050486|REF_RGD_ID:9491392 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:620137 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:glomerulus PMID:19590241|REF_RGD_ID:4891946 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:4992 optic nerve glioma onset ISO RGD:1552004 D RGD:9068941 20200609 RGD associated with Neurofibromatosis 1 PMID:23424002|REF_RGD_ID:9491391 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:5154 borna disease ISO RGD:620137 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:12053272|REF_RGD_ID:4891998 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1352124 D RGD:7240710 20230505 OMIM 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:6000 congestive heart failure ISO RGD:620137 D RGD:9068941 20200609 RGD mRNA, protein:increased expression: paraventricular nucleus of hypothalamus PMID:24036597|REF_RGD_ID:9491792 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:6195 conjunctivitis ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:22692452|REF_RGD_ID:9491751 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:630 genetic disease ISO RGD:1352124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:6432 pulmonary hypertension ISO RGD:1352124 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;DNA:polymorphisms: :p.V249I, p.T280M (human) PMID:16584113|REF_RGD_ID:4891896 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:6432 pulmonary hypertension ISO RGD:620137 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:17182651|REF_RGD_ID:4891893 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:649 prion disease ISO RGD:620137 D RGD:9068941 20200609 RGD protein:increased expression:microglial cell PMID:11870871|REF_RGD_ID:4892001 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:8466 retinal degeneration ISO RGD:1352124 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20361964 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:8466 retinal degeneration ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:22545116|REF_RGD_ID:9479077 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:8893 psoriasis ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:SNP, missense mutation:intron, cds: , p.T280M (human) PMID:17002687|REF_RGD_ID:9491384 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:900 hepatopulmonary syndrome treatment ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:22659346|REF_RGD_ID:9491778 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9000528 Coronary Disease ISO RGD:1352124 D RGD:7240710 20230505 OMIM 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9000528 Coronary Disease ISO RGD:1352124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary heart disease, susceptibility to, 1 PMID:25741868 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9000641 Pain ISO RGD:620137 D RGD:9068941 20200609 RGD associated with Bone Neoplasms PMID:20736819|REF_RGD_ID:4892020 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9000965 Neoplasm Metastasis susceptibility ISO RGD:1352124 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:16627550|REF_RGD_ID:4892015 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9001341 Chloracne ISO RGD:1352124 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:20609517|REF_RGD_ID:4891885 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:1552004 D RGD:9068941 20200609 RGD associated with Inflammation PMID:20524966|REF_RGD_ID:9354422 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:16324111|REF_RGD_ID:9387859 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:620137 D RGD:9068941 20200609 RGD associated with Arthritis, Experimental;protein:increased expression:lumbar spinal cord PMID:22647647|REF_RGD_ID:9491779 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:620137 D RGD:9068941 20200609 RGD associated with Bone Neoplasms PMID:20736819|REF_RGD_ID:4892020 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:620137 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:19959384|REF_RGD_ID:4891942 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9002457 Experimental Arthritis ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:11465708|REF_RGD_ID:4892002 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9002457 Experimental Arthritis ISO RGD:620137 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:17123734|REF_RGD_ID:4891969 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:16053521|PMID:24706865|REF_RGD_ID:4891973|REF_RGD_ID:9491767 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:22377584|REF_RGD_ID:8661752 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9004484 Sepsis ISO RGD:1352124 D RGD:9068941 20200609 RGD protein:increased expression:lung, macrophage PMID:19733456|REF_RGD_ID:4144897 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9004538 Hearing Loss ISO RGD:1552004 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cochlea PMID:24781382|REF_RGD_ID:9491762 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9005070 Microscopic Polyangiitis ISO RGD:1352124 D RGD:9068941 20200609 RGD protein:increased expression:blood, T cell PMID:19327232|REF_RGD_ID:9491765 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9005372 Inflammation ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:23299473|REF_RGD_ID:9375525 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9005372 Inflammation ISO RGD:620137 D RGD:9068941 20200609 RGD associated with Temporomandibular Joint Disorders PMID:23110394|REF_RGD_ID:9491768 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9005396 Intimal Hyperplasia ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:20836883|REF_RGD_ID:8661636 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620137 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:15153757|REF_RGD_ID:4891992 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:19689733|REF_RGD_ID:9491397 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:16030495|REF_RGD_ID:9479740 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9005665 Chronic Mesangial Proliferative Glomerulonephritis ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:12028445|REF_RGD_ID:9491783 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:620137 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:21224760|REF_RGD_ID:4891907 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:18448252|REF_RGD_ID:4891968 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1352124 D RGD:9068941 20200609 RGD PMID:18257903|REF_RGD_ID:4891891 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:SNP: :p.T280M (human) PMID:16645504|REF_RGD_ID:4891905 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1352124 D RGD:9068941 20200609 RGD protein:decreased expression:blood, monocyte PMID:15786508|REF_RGD_ID:4892017 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9008023 Memory Disorders ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:23855980|REF_RGD_ID:9491766 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1352124 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, mononuclear cell PMID:21180278|REF_RGD_ID:6893428 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9351 diabetes mellitus ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:23307960|REF_RGD_ID:9491759 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9477 pulmonary embolism treatment ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:23578461|REF_RGD_ID:9491777 11785132 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9970 obesity ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:SNP: :p.T280M (human) PMID:20523302|REF_RGD_ID:4891903 11785141 LRRC45 leucine rich repeat containing 45 gene DOID:630 genetic disease ISO RGD:1604206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11785178 OIT3 oncoprotein induced transcript 3 gene DOID:10283 prostate cancer ISO RGD:1345970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11785178 OIT3 oncoprotein induced transcript 3 gene DOID:630 genetic disease ISO RGD:1345970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11785178 OIT3 oncoprotein induced transcript 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1345970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11785193 TCEAL3 transcription elongation factor A like 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11785193 TCEAL3 transcription elongation factor A like 3 gene DOID:0110773 hereditary spastic paraplegia 2 ISO RGD:1346044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 PMID:10417279|PMID:16380909|PMID:18160035|PMID:19328639|PMID:28492532|PMID:9634530 11785193 TCEAL3 transcription elongation factor A like 3 gene DOID:12849 autistic disorder ISO RGD:1346044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11785193 TCEAL3 transcription elongation factor A like 3 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1346044 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:31690835|PMID:9633722|PMID:9634530 11785193 TCEAL3 transcription elongation factor A like 3 gene DOID:630 genetic disease ISO RGD:1346044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11785193 TCEAL3 transcription elongation factor A like 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1346044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11785211 RAB15 RAB15, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1351715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11785225 CCL26 C-C motif chemokine ligand 26 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma disease_progression ISO RGD:1344177 D RGD:9068941 20200609 RGD mRNA:increased expression:skin (human) PMID:20505746|REF_RGD_ID:11087556 11785225 CCL26 C-C motif chemokine ligand 26 gene DOID:13922 eosinophilic esophagitis ISO RGD:1344177 D RGD:9068941 20200609 RGD protein:increased expression:esophagus (human) PMID:24704289|REF_RGD_ID:11081157 11785225 CCL26 C-C motif chemokine ligand 26 gene DOID:13922 eosinophilic esophagitis treatment ISO RGD:1344177 D RGD:9068941 20200609 RGD PMID:18844613|REF_RGD_ID:11081156 11785225 CCL26 C-C motif chemokine ligand 26 gene DOID:2841 asthma ISO RGD:1344177 D RGD:9068941 20200609 RGD DNA:SNPs: :77C>T, 2497T>G (human) PMID:15207712|REF_RGD_ID:4891495 11785225 CCL26 C-C motif chemokine ligand 26 gene DOID:2841 asthma ISO RGD:1344177 D RGD:9068941 20200609 RGD DNA:SNPs: :77C>T, 716A>G, 1579G>A (human) PMID:18712274|REF_RGD_ID:4891483 11785225 CCL26 C-C motif chemokine ligand 26 gene DOID:2841 asthma ISO RGD:1344177 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16304252|REF_RGD_ID:5130930 11785225 CCL26 C-C motif chemokine ligand 26 gene DOID:2841 asthma treatment ISO RGD:1587817 D RGD:9068941 20200609 RGD PMID:25399816|REF_RGD_ID:11087575 11785225 CCL26 C-C motif chemokine ligand 26 gene DOID:2841 asthma treatment ISO RGD:1619597 D RGD:9068941 20200609 RGD PMID:25530546|REF_RGD_ID:11081163 11785225 CCL26 C-C motif chemokine ligand 26 gene DOID:3049 Churg-Strauss syndrome ISO RGD:1344177 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21266446|REF_RGD_ID:11081158 11785225 CCL26 C-C motif chemokine ligand 26 gene DOID:3310 atopic dermatitis ISO RGD:1344177 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:14616792|REF_RGD_ID:11087554 11785225 CCL26 C-C motif chemokine ligand 26 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1344177 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:16620281|REF_RGD_ID:11081161 11785225 CCL26 C-C motif chemokine ligand 26 gene DOID:4031 eosinophilic gastroenteritis ISO RGD:1344177 D RGD:9068941 20200609 RGD mRNA:increased expression:gastric antrum (human) PMID:25234644|REF_RGD_ID:11081160 11785225 CCL26 C-C motif chemokine ligand 26 gene DOID:4481 allergic rhinitis ISO RGD:1344177 D RGD:9068941 20200609 RGD protein:increased expression:oronasal secretion (human) PMID:23883806|REF_RGD_ID:7364793 11785225 CCL26 C-C motif chemokine ligand 26 gene DOID:4483 rhinitis ISO RGD:1344177 D RGD:9068941 20200609 RGD DNA:polymorphism: :2497T>G (human) PMID:15580493|REF_RGD_ID:4891493 11785225 CCL26 C-C motif chemokine ligand 26 gene DOID:4483 rhinitis ISO RGD:1344177 D RGD:9068941 20200609 RGD associated with Eosinophilia;protein:increased expression:oronasal secretion (human) PMID:24989688|REF_RGD_ID:11531119 11785225 CCL26 C-C motif chemokine ligand 26 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11785225 CCL26 C-C motif chemokine ligand 26 gene DOID:630 genetic disease ISO RGD:1344177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11785225 CCL26 C-C motif chemokine ligand 26 gene DOID:8506 bullous pemphigoid ISO RGD:1344177 D RGD:9068941 20200609 RGD protein:increased expression:blister, serum (human) PMID:21881593|REF_RGD_ID:11087555 11785225 CCL26 C-C motif chemokine ligand 26 gene DOID:8534 gastroesophageal reflux disease ISO RGD:1344177 D RGD:9068941 20200609 RGD protein:increased expression:esophagus (human) PMID:17900656|REF_RGD_ID:11081162 11785225 CCL26 C-C motif chemokine ligand 26 gene DOID:9000406 Eosinophilic Asthma severity ISO RGD:1344177 D RGD:9068941 20200609 RGD protein:increased expression:sputum (human) PMID:25936567|REF_RGD_ID:11531115 11785225 CCL26 C-C motif chemokine ligand 26 gene DOID:9001371 Eosinophilia ISO RGD:1344177 D RGD:9068941 20200609 RGD associated with Pleural Effusion PMID:15947325|REF_RGD_ID:5130928 11785225 CCL26 C-C motif chemokine ligand 26 gene DOID:9001371 Eosinophilia ISO RGD:1344177 D RGD:9068941 20200609 RGD associated with Sinusitis PMID:19296494|REF_RGD_ID:4891487 11785225 CCL26 C-C motif chemokine ligand 26 gene DOID:9001472 Nasal Polyps ISO RGD:1344177 D RGD:9068941 20200609 RGD associated with Sinusitis;mRNA:increased expression:nasal cavity epithelium PMID:21303604|REF_RGD_ID:5130929 11785225 CCL26 C-C motif chemokine ligand 26 gene DOID:9003778 Eosinophilic Pustular Folliculitis ISO RGD:1344177 D RGD:9068941 20200609 RGD protein:increased expression:skin, sebocyte (human) PMID:22206772|REF_RGD_ID:11081159 11785225 CCL26 C-C motif chemokine ligand 26 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1344177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 11785225 CCL26 C-C motif chemokine ligand 26 gene DOID:9415 allergic asthma treatment ISO RGD:1619597 D RGD:9068941 20200609 RGD PMID:25530546|REF_RGD_ID:11081163 11785233 TMEM132E transmembrane protein 132E gene DOID:0111634 autosomal recessive nonsyndromic deafness 99 ISO RGD:1603364 D RGD:7240710 20190710 OMIM 11785233 TMEM132E transmembrane protein 132E gene DOID:0111634 autosomal recessive nonsyndromic deafness 99 ISO RGD:1603364 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 99 PMID:12673573|PMID:25331638|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31656313 11785233 TMEM132E transmembrane protein 132E gene DOID:630 genetic disease ISO RGD:1603364 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11785233 TMEM132E transmembrane protein 132E gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11785246 KIAA0825 KIAA0825 ortholog gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11785246 KIAA0825 KIAA0825 ortholog gene DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome ISO RGD:1604483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome PMID:24462372 11785246 KIAA0825 KIAA0825 ortholog gene DOID:630 genetic disease ISO RGD:1604483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11785246 KIAA0825 KIAA0825 ortholog gene DOID:9003071 Postaxial Polydactyly ISO RGD:1604483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic postaxial polydactyly PMID:30982135 11785246 KIAA0825 KIAA0825 ortholog gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1604483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 PMID:30982135 11785246 KIAA0825 KIAA0825 ortholog gene DOID:9003540 Postaxial Polydactyly, Type A10 ISO RGD:1604483 D RGD:7240710 20190731 OMIM 11785246 KIAA0825 KIAA0825 ortholog gene DOID:9003540 Postaxial Polydactyly, Type A10 ISO RGD:1604483 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type a10 PMID:25741868|PMID:30982135|PMID:32147526 11785246 KIAA0825 KIAA0825 ortholog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11785246 KIAA0825 KIAA0825 ortholog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11785302 MAG myelin associated glycoprotein gene DOID:0050256 angiostrongyliasis disease_progression ISO RGD:736776 D RGD:9068941 20200609 RGD PMID:20399564|REF_RGD_ID:27226693 11785302 MAG myelin associated glycoprotein gene DOID:0110222 Brugada syndrome 5 ISO RGD:732303 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11785302 MAG myelin associated glycoprotein gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:732303 D RGD:7240710 20180130 OMIM 11785302 MAG myelin associated glycoprotein gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:732303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:17576681|PMID:24482476|PMID:25741868|PMID:26179919|PMID:28492532|PMID:28832565|PMID:31227335|PMID:31402626|PMID:9536098 11785302 MAG myelin associated glycoprotein gene DOID:11446 sciatic neuropathy treatment ISO RGD:3035 D RGD:9068941 20200609 RGD PMID:17705198|REF_RGD_ID:9685295 11785302 MAG myelin associated glycoprotein gene DOID:12217 Lewy body dementia ISO RGD:732303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 11785302 MAG myelin associated glycoprotein gene DOID:14330 Parkinson's disease ISO RGD:732303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 11785302 MAG myelin associated glycoprotein gene DOID:2377 multiple sclerosis ISO RGD:732303 D RGD:9068941 20200609 RGD PMID:2419505|REF_RGD_ID:9685292 11785302 MAG myelin associated glycoprotein gene DOID:2476 hereditary spastic paraplegia ISO RGD:732303 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28492532|PMID:28832565|PMID:31402626 11785302 MAG myelin associated glycoprotein gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3035 D RGD:9068941 20200609 RGD PMID:15678116|REF_RGD_ID:9685232 11785302 MAG myelin associated glycoprotein gene DOID:543 dystonia ISO RGD:732303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11785302 MAG myelin associated glycoprotein gene DOID:573 nerve compression syndrome ISO RGD:3035 D RGD:9068941 20200609 RGD PMID:16764860|REF_RGD_ID:9685296 11785302 MAG myelin associated glycoprotein gene DOID:630 genetic disease ISO RGD:732303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11785302 MAG myelin associated glycoprotein gene DOID:9000998 Brain Injuries susceptibility ISO RGD:3035 D RGD:9068941 20200609 RGD PMID:17156367|REF_RGD_ID:9685230 11785302 MAG myelin associated glycoprotein gene DOID:9002498 Wallerian Degeneration ISO RGD:3035 D RGD:9068941 20200609 RGD PMID:12730963|REF_RGD_ID:9685301 11785302 MAG myelin associated glycoprotein gene DOID:9006973 Acute Experimental Autoimmune Encephalomyelitis ISO RGD:3035 D RGD:9068941 20200609 RGD protein:decreased expression:optic nerve PMID:9820787|REF_RGD_ID:9685300 11785341 TP53I13 tumor protein p53 inducible protein 13 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1605319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 11785341 TP53I13 tumor protein p53 inducible protein 13 gene DOID:630 genetic disease ISO RGD:1605319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11785341 TP53I13 tumor protein p53 inducible protein 13 gene DOID:9008582 Developmental Disease ISO RGD:1605319 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11785356 DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 11785356 DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1344057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 11785356 DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1344057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11785356 DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1344057 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 11785356 DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:0110720 neuronal ceroid lipofuscinosis 4 ISO RGD:1344057 D RGD:7240710 20180725 OMIM 11785356 DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:0110720 neuronal ceroid lipofuscinosis 4 ISO RGD:1344057 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Kufs disease autosomal dominant | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 4B PMID:11489285|PMID:12112194|PMID:21820099|PMID:22073189|PMID:22235333|PMID:22978711|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31919451 11785356 DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 11785356 DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:11832 visual epilepsy ISO RGD:1344057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26467025|PMID:28492532 11785356 DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1344057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:17576681|PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25741868|PMID:25921748|PMID:26467025|PMID:28492532|PMID:29215089|PMID:30866059|PMID:32412666|PMID:9536098 11785356 DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1344057 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32412666|PMID:9536098 11785356 DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:1826 epilepsy ISO RGD:1344057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:26467025|PMID:28492532 11785356 DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:630 genetic disease ISO RGD:1344057 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 11785356 DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1344057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:25741868|PMID:26467025|PMID:28492532 11785367 DIRAS1 DIRAS family GTPase 1 gene DOID:308 early myoclonic encephalopathy ISO RGD:12107474 D RGD:9068941 20210604 OMIA Epilepsy, generalized myoclonic, with photosensitivity PMID:28223533|PMID:29194766 11785367 DIRAS1 DIRAS family GTPase 1 gene DOID:630 genetic disease ISO RGD:1321350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11785367 DIRAS1 DIRAS family GTPase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11785374 RASSF5 Ras association domain family member 5 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606212 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11785374 RASSF5 Ras association domain family member 5 gene DOID:12849 autistic disorder ISO RGD:1606212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11785374 RASSF5 Ras association domain family member 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1606212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11785374 RASSF5 Ras association domain family member 5 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1606212 D RGD:9068941 20200609 RGD PMID:20434789|REF_RGD_ID:13503325 11785374 RASSF5 Ras association domain family member 5 gene DOID:630 genetic disease ISO RGD:1606212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11785374 RASSF5 Ras association domain family member 5 gene DOID:769 neuroblastoma ISO RGD:1606212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18452173 11785374 RASSF5 Ras association domain family member 5 gene DOID:9002265 Kidney Neoplasms ISO RGD:1606212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25217643 11785374 RASSF5 Ras association domain family member 5 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606212 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11785374 RASSF5 Ras association domain family member 5 gene DOID:9074 systemic lupus erythematosus ISO RGD:733134 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 11785374 RASSF5 Ras association domain family member 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11785391 BTNL8 butyrophilin like 8 gene DOID:630 genetic disease ISO RGD:1351143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11785402 GOLGA3 golgin A3 gene DOID:630 genetic disease ISO RGD:1313187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11785402 GOLGA3 golgin A3 gene DOID:9256 colorectal cancer ISO RGD:1313187 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:23230001|PMID:25948378|PMID:28492532|PMID:30503519 11785447 APOE apolipoprotein E gene DOID:0050639 primary cutaneous amyloidosis ISO RGD:736378 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:9740234|REF_RGD_ID:7771598 11785447 APOE apolipoprotein E gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:15007105|REF_RGD_ID:12904641 11785447 APOE apolipoprotein E gene DOID:0050851 glomerulosclerosis ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:21907828|REF_RGD_ID:6903285 11785447 APOE apolipoprotein E gene DOID:0050851 glomerulosclerosis ISO RGD:2138 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus (rat) PMID:22207560|REF_RGD_ID:6903199 11785447 APOE apolipoprotein E gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:18515564|REF_RGD_ID:7771550 11785447 APOE apolipoprotein E gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:21184788|REF_RGD_ID:6904141 11785447 APOE apolipoprotein E gene DOID:0080665 warfarin resistance ISO RGD:736378 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Coumarin resistance PMID:10213549|PMID:10799751|PMID:11835377|PMID:11940689|PMID:11940706|PMID:14741101|PMID:15048896|PMID:15146461|PMID:15184602|PMID:15326261|PMID:15557508|PMID:15668424|PMID:16103896|PMID:16143024|PMID:17289397|PMID:18338393|PMID:18979180|PMID:18987351|PMID:19605830|PMID:19667110|PMID:19846850|PMID:20031551|PMID:20031582|PMID:21742527|PMID:22381401|PMID:22992668|PMID:23060451|PMID:23296339|PMID:23571587|PMID:24033266|PMID:25741868|PMID:27260402|PMID:29842932|PMID:2987927|PMID:2992507|PMID:32376954|PMID:3243553|PMID:3353383|PMID:3922972|PMID:6300187|PMID:7263700|PMID:8294487|PMID:8346443|PMID:8350998|PMID:8618665|PMID:8644717|PMID:9343467|PMID:9649566|PMID:9932938 11785447 APOE apolipoprotein E gene DOID:0080666 warfarin sensitivity ISO RGD:736378 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Warfarin sensitivity PMID:10213549|PMID:10799751|PMID:11835377|PMID:11940689|PMID:11940706|PMID:14741101|PMID:15048896|PMID:15146461|PMID:15184602|PMID:15326261|PMID:15557508|PMID:15668424|PMID:16103896|PMID:16143024|PMID:17289397|PMID:18338393|PMID:18979180|PMID:18987351|PMID:19605830|PMID:19667110|PMID:19846850|PMID:20031551|PMID:20031582|PMID:21742527|PMID:22381401|PMID:22992668|PMID:23060451|PMID:23296339|PMID:23571587|PMID:24033266|PMID:25741868|PMID:27260402|PMID:29842932|PMID:2987927|PMID:2992507|PMID:32376954|PMID:3243553|PMID:3353383|PMID:3922972|PMID:6300187|PMID:7263700|PMID:8294487|PMID:8346443|PMID:8350998|PMID:8618665|PMID:8644717|PMID:9343467|PMID:9649566|PMID:9932938 11785447 APOE apolipoprotein E gene DOID:0110014 age related macular degeneration 1 ISO RGD:736378 D RGD:7240710 20230517 OMIM 11785447 APOE apolipoprotein E gene DOID:0110014 age related macular degeneration 1 ISO RGD:736378 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 1 | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 1 PMID:25741868|PMID:28492532 11785447 APOE apolipoprotein E gene DOID:0110035 Alzheimer's disease 2 ISO RGD:736378 D RGD:7240710 20230517 OMIM 11785447 APOE apolipoprotein E gene DOID:0110035 Alzheimer's disease 2 ISO RGD:736378 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Alzheimer disease 2 | ClinVar Annotator: match by term: Alzheimer disease associated with APOE E4 | ClinVar Annotator: match by term: Late-onset familial alzheimer disease PMID:10213549|PMID:10799751|PMID:11835377|PMID:11940689|PMID:11940706|PMID:14741101|PMID:15048896|PMID:15146461|PMID:15184602|PMID:15326261|PMID:15557508|PMID:15668424|PMID:18338393|PMID:18979180|PMID:18987351|PMID:19605830|PMID:19846850|PMID:21742527|PMID:22381401|PMID:23060451|PMID:23296339|PMID:23571587|PMID:24033266|PMID:25741868|PMID:27260402|PMID:28492532|PMID:29842932|PMID:2987927|PMID:32376954|PMID:3353383|PMID:3922972|PMID:7263700|PMID:8294487|PMID:8346443|PMID:8350998|PMID:8618665|PMID:8644717|PMID:9343467|PMID:9932938 11785447 APOE apolipoprotein E gene DOID:0110040 Alzheimer's disease 4 ISO RGD:736378 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Alzheimer disease 4 | ClinVar Annotator: match by term: Alzheimer disease familial type 4 PMID:10213152|PMID:10213549|PMID:10799751|PMID:11068149|PMID:11835377|PMID:11940689|PMID:11940706|PMID:14741101|PMID:15048896|PMID:15146461|PMID:15184602|PMID:15326261|PMID:15557508|PMID:15668424|PMID:16621646|PMID:18338393|PMID:18979180|PMID:18987351|PMID:19605830|PMID:19846850|PMID:21742527|PMID:22381401|PMID:23060451|PMID:23296339|PMID:23571587|PMID:24033266|PMID:24082139|PMID:24644280|PMID:25741868|PMID:26802169|PMID:27260402|PMID:28492532|PMID:29842932|PMID:2987927|PMID:32058863|PMID:32376954|PMID:3353383|PMID:3922972|PMID:7263700|PMID:8294487|PMID:8346443|PMID:8350998|PMID:8618665|PMID:8644717|PMID:9343467|PMID:9932938 11785447 APOE apolipoprotein E gene DOID:0110042 Alzheimer's disease 3 ISO RGD:736378 D RGD:7240710 20230517 OMIM 11785447 APOE apolipoprotein E gene DOID:0110042 Alzheimer's disease 3 ISO RGD:736378 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3 | ClinVar Annotator: match by term: Alzheimer disease 3 PMID:10432380|PMID:18077821|PMID:25741868|PMID:28492532 11785447 APOE apolipoprotein E gene DOID:10003 sensorineural hearing loss susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:17454231|REF_RGD_ID:7771593 11785447 APOE apolipoprotein E gene DOID:10211 cholelithiasis susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs440446 (human) PMID:18296645|REF_RGD_ID:2317550 11785447 APOE apolipoprotein E gene DOID:10230 aortic atherosclerosis ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:29459263|REF_RGD_ID:13703129 11785447 APOE apolipoprotein E gene DOID:10652 Alzheimer's disease ISO RGD:736378 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early onset PMID:10213549|PMID:10799751|PMID:11835377|PMID:11940689|PMID:11940706|PMID:14741101|PMID:15048896|PMID:15146461|PMID:15184602|PMID:15326261|PMID:15557508|PMID:15668424|PMID:18338393|PMID:18979180|PMID:18987351|PMID:19605830|PMID:19846850|PMID:21742527|PMID:22381401|PMID:23060451|PMID:23296339|PMID:23571587|PMID:24033266|PMID:25741868|PMID:27260402|PMID:29842932|PMID:2987927|PMID:32376954|PMID:3353383|PMID:3922972|PMID:7263700|PMID:8294487|PMID:8346443|PMID:8350998|PMID:8618665|PMID:8644717|PMID:9343467|PMID:9932938 11785447 APOE apolipoprotein E gene DOID:10652 Alzheimer's disease no_association ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-491A>T,-427T>C(human) PMID:18057979|REF_RGD_ID:7771594 11785447 APOE apolipoprotein E gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:SNP: :APOEe4(human) PMID:20574532|REF_RGD_ID:10427727 11785447 APOE apolipoprotein E gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotype:cds:p.C112R, (rs7412) (human) PMID:10027549|REF_RGD_ID:6903233 11785447 APOE apolipoprotein E gene DOID:10652 Alzheimer's disease treatment ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:20088507|REF_RGD_ID:12904712 11785447 APOE apolipoprotein E gene DOID:1067 open-angle glaucoma susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:16110302|REF_RGD_ID:7495786 11785447 APOE apolipoprotein E gene DOID:1070 primary open angle glaucoma no_association ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter: PMID:15525904|REF_RGD_ID:7495787 11785447 APOE apolipoprotein E gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:17706090|REF_RGD_ID:7771556 11785447 APOE apolipoprotein E gene DOID:1074 kidney failure ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20842518 11785447 APOE apolipoprotein E gene DOID:10763 hypertension ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20720404|PMID:22228705 11785447 APOE apolipoprotein E gene DOID:10763 hypertension onset ISO RGD:2138 D RGD:9068941 20200609 RGD mRNA:decreased expression:multiple (rat) PMID:20585107|REF_RGD_ID:6904214 11785447 APOE apolipoprotein E gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:16079201|REF_RGD_ID:7775015 11785447 APOE apolipoprotein E gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:9512153|REF_RGD_ID:7495762 11785447 APOE apolipoprotein E gene DOID:10976 membranous glomerulonephritis ISO RGD:2138 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:22785171|REF_RGD_ID:6903854 11785447 APOE apolipoprotein E gene DOID:11446 sciatic neuropathy ISO RGD:2138 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve: PMID:2493483|REF_RGD_ID:7495790 11785447 APOE apolipoprotein E gene DOID:1168 familial hyperlipidemia ISO RGD:2138 D RGD:9068941 20211112 RGD PMID:29459263|PMID:30796231|REF_RGD_ID:13703129|REF_RGD_ID:150521536 11785447 APOE apolipoprotein E gene DOID:1168 familial hyperlipidemia ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11947894|PMID:12871831|PMID:20530721|PMID:20937366 11785447 APOE apolipoprotein E gene DOID:1168 familial hyperlipidemia treatment ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:22762542|REF_RGD_ID:6903856 11785447 APOE apolipoprotein E gene DOID:1184 nephrotic syndrome ISO RGD:736378 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:2381443|REF_RGD_ID:12904707 11785447 APOE apolipoprotein E gene DOID:12217 Lewy body dementia ISO RGD:736378 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:21907175|REF_RGD_ID:7771591 11785447 APOE apolipoprotein E gene DOID:12241 beta thalassemia ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:22705320|REF_RGD_ID:11039491 11785447 APOE apolipoprotein E gene DOID:12365 malaria ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.C112R, p.C158R (human) PMID:24116184|REF_RGD_ID:11039486 11785447 APOE apolipoprotein E gene DOID:1287 cardiovascular system disease ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16544732 11785447 APOE apolipoprotein E gene DOID:12894 Sjogren's syndrome onset ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:15328426|REF_RGD_ID:7495765 11785447 APOE apolipoprotein E gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:16714771|REF_RGD_ID:1601240 11785447 APOE apolipoprotein E gene DOID:13001 carotid stenosis ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17243563 11785447 APOE apolipoprotein E gene DOID:13544 low tension glaucoma susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:16778644|REF_RGD_ID:7495800 11785447 APOE apolipoprotein E gene DOID:13550 angle-closure glaucoma susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:17706090|REF_RGD_ID:7771556 11785447 APOE apolipoprotein E gene DOID:13580 cholestasis ISO RGD:736378 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms;protein:increased expression:plasma PMID:19055369|REF_RGD_ID:2317548 11785447 APOE apolipoprotein E gene DOID:13641 exfoliation syndrome susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:15939044|REF_RGD_ID:7771555 11785447 APOE apolipoprotein E gene DOID:13809 familial combined hyperlipidemia ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotype:cds:p.C112R, p.R158C (human) PMID:12915220|PMID:17127808|REF_RGD_ID:1578481|REF_RGD_ID:1601231 11785447 APOE apolipoprotein E gene DOID:13810 familial hypercholesterolemia ISO RGD:736378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia 11785447 APOE apolipoprotein E gene DOID:14330 Parkinson's disease ISO RGD:736378 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:21907175|REF_RGD_ID:7771591 11785447 APOE apolipoprotein E gene DOID:1459 hypothyroidism ISO RGD:2138 D RGD:9068941 20200609 RGD protein:increased expression:plasma, high-density lipoprotein particle (rat) PMID:6816881|REF_RGD_ID:12904658 11785447 APOE apolipoprotein E gene DOID:1561 cognitive disorder ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18239197 11785447 APOE apolipoprotein E gene DOID:1612 breast cancer no_association ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymprphism:exon: PMID:16752225|REF_RGD_ID:7771592 11785447 APOE apolipoprotein E gene DOID:1612 breast cancer susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:15830139|REF_RGD_ID:7495789 11785447 APOE apolipoprotein E gene DOID:1793 pancreatic cancer ISO RGD:736378 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:16215274|REF_RGD_ID:2317552 11785447 APOE apolipoprotein E gene DOID:1920 hyperuricemia susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X; DNA:missense mutations:cds:p.C112R, p.R158C (human) PMID:15713714|REF_RGD_ID:1601235 11785447 APOE apolipoprotein E gene DOID:1936 atherosclerosis ISO RGD:2138 D RGD:9068941 20211112 RGD PMID:30796231|REF_RGD_ID:150521536 11785447 APOE apolipoprotein E gene DOID:1936 atherosclerosis ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:1411543|REF_RGD_ID:734968 11785447 APOE apolipoprotein E gene DOID:1936 atherosclerosis ISO RGD:736378 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:11095717|PMID:11231916|PMID:11947894|PMID:12871831|PMID:14594625|PMID:16020748|PMID:16303615|PMID:17438151|PMID:18093987|PMID:18269830|PMID:19124646|PMID:19682479|PMID:20093625|PMID:21043830|PMID:21512104|PMID:21908651|PMID:22005275|PMID:22022523|PMID:22228805|PMID:23148895|PMID:23639522|PMID:24017971|PMID:24096154|PMID:24330719|PMID:25020133|PMID:28483571|PMID:30376133|PMID:33861588|PMID:34673409|PMID:9169506|PMID:9409251|PMID:9649566 11785447 APOE apolipoprotein E gene DOID:1936 atherosclerosis treatment ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:7593602|REF_RGD_ID:7771549 11785447 APOE apolipoprotein E gene DOID:2030 anxiety disorder ISO RGD:736378 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32057829 11785447 APOE apolipoprotein E gene DOID:224 transient cerebral ischemia ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:19623195|REF_RGD_ID:6903926 11785447 APOE apolipoprotein E gene DOID:2349 arteriosclerosis ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17118406|PMID:18287887 11785447 APOE apolipoprotein E gene DOID:2377 multiple sclerosis ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048896 11785447 APOE apolipoprotein E gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:736378 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:15096402|PMID:34624384 11785447 APOE apolipoprotein E gene DOID:2921 glomerulonephritis ISO RGD:733604 D RGD:9068941 20200609 RGD Apoe(-/-) Id3(-/-) double knockout PMID:21801865|REF_RGD_ID:6903286 11785447 APOE apolipoprotein E gene DOID:299 adenocarcinoma ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20430468 11785447 APOE apolipoprotein E gene DOID:3121 gallbladder cancer susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs440446 (human) PMID:18296645|REF_RGD_ID:2317550 11785447 APOE apolipoprotein E gene DOID:3145 hyperlipoproteinemia type III ISO RGD:736378 D RGD:7240710 20230517 OMIM 11785447 APOE apolipoprotein E gene DOID:3145 hyperlipoproteinemia type III ISO RGD:736378 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: APOE5 VARIANT | ClinVar Annotator: match by term: Coronary artery disease, severe, susceptibility to | ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia | ClinVar Annotator: match by term: Floating-betalipoproteinemia | ClinVar Annotator: match by term: HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE3(WASHINGTON) PMID:10587578|PMID:11500500|PMID:12774036|PMID:1356443|PMID:1360898|PMID:1361196|PMID:15096402|PMID:15256764|PMID:16103896|PMID:16143024|PMID:16690468|PMID:1713245|PMID:17289397|PMID:19667110|PMID:20031551|PMID:20031582|PMID:20981092|PMID:2101409|PMID:22069485|PMID:22992668|PMID:24239320|PMID:24507774|PMID:25502880|PMID:2556398|PMID:25741868|PMID:26377243|PMID:26802169|PMID:28492532|PMID:28559539|PMID:2992507|PMID:3029073|PMID:3038959|PMID:3243553|PMID:33116287|PMID:3721502|PMID:3745433|PMID:3771793|PMID:6300187|PMID:6795720|PMID:7175379|PMID:7635945|PMID:7735921|PMID:9157949|PMID:9176854|PMID:9649566 11785447 APOE apolipoprotein E gene DOID:3310 atopic dermatitis ISO RGD:736378 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:19116453|REF_RGD_ID:11040546 11785447 APOE apolipoprotein E gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) PMID:8899655|REF_RGD_ID:12880359 11785447 APOE apolipoprotein E gene DOID:3393 coronary artery disease ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:28808185|REF_RGD_ID:13703132 11785447 APOE apolipoprotein E gene DOID:3393 coronary artery disease ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C112R (human) PMID:12860263|REF_RGD_ID:1578449 11785447 APOE apolipoprotein E gene DOID:3393 coronary artery disease ISO RGD:736378 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin Dependent;DNA:SNP:promoter:-219G>T (human) PMID:15059615|REF_RGD_ID:1626412 11785447 APOE apolipoprotein E gene DOID:3393 coronary artery disease susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:snp, missense mutation:promoter, cds:g.-219G>T, p.C112R (human) PMID:14563588|REF_RGD_ID:1580039 11785447 APOE apolipoprotein E gene DOID:3407 carotid artery disease ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18022660 11785447 APOE apolipoprotein E gene DOID:3525 middle cerebral artery infarction ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:19623195|REF_RGD_ID:6903926 11785447 APOE apolipoprotein E gene DOID:3526 cerebral infarction susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism: :3932T>C (human) PMID:17016617|REF_RGD_ID:1601237 11785447 APOE apolipoprotein E gene DOID:3905 lung carcinoma ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:24175756|REF_RGD_ID:11040551 11785447 APOE apolipoprotein E gene DOID:4423 sea-blue histiocytosis ISO RGD:736378 D RGD:7240710 20230517 OMIM 11785447 APOE apolipoprotein E gene DOID:4423 sea-blue histiocytosis ISO RGD:736378 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sea-blue histiocyte syndrome | ClinVar Annotator: match by term: Sea-blue histiocytosis PMID:25741868|PMID:28492532 11785447 APOE apolipoprotein E gene DOID:4448 macular degeneration ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16453339 11785447 APOE apolipoprotein E gene DOID:4448 macular degeneration ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:16079201|REF_RGD_ID:7775015 11785447 APOE apolipoprotein E gene DOID:4448 macular degeneration no_association ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:10859513|REF_RGD_ID:7771552 11785447 APOE apolipoprotein E gene DOID:4448 macular degeneration susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:haplotype:cds: PMID:19384966|REF_RGD_ID:7771587 11785447 APOE apolipoprotein E gene DOID:4448 macular degeneration susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:12567264|REF_RGD_ID:7495761 11785447 APOE apolipoprotein E gene DOID:4606 bile duct cancer susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs440446 (human) PMID:18296645|REF_RGD_ID:2317550 11785447 APOE apolipoprotein E gene DOID:5419 schizophrenia ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 11785447 APOE apolipoprotein E gene DOID:5679 retinal disease susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:17562993|REF_RGD_ID:7495760 11785447 APOE apolipoprotein E gene DOID:576 proteinuria ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20842518 11785447 APOE apolipoprotein E gene DOID:5844 myocardial infarction ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10587578 11785447 APOE apolipoprotein E gene DOID:5844 myocardial infarction ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotype:cds:p.C112R, p.C158R (human) PMID:10090925|REF_RGD_ID:10449412 11785447 APOE apolipoprotein E gene DOID:5844 myocardial infarction susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) PMID:17217375|REF_RGD_ID:1601229 11785447 APOE apolipoprotein E gene DOID:6000 congestive heart failure ISO RGD:736378 D RGD:9068941 20200609 RGD associated with Beta-Thalassemia PMID:9787187|REF_RGD_ID:11039487 11785447 APOE apolipoprotein E gene DOID:630 genetic disease ISO RGD:736378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11785447 APOE apolipoprotein E gene DOID:6713 cerebrovascular disease susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:17376122|REF_RGD_ID:1601227 11785447 APOE apolipoprotein E gene DOID:684 hepatocellular carcinoma ISO RGD:733604 D RGD:9068941 20200609 RGD protein:increased expression:liver, serum (mouse) PMID:21644509|REF_RGD_ID:6903288 11785447 APOE apolipoprotein E gene DOID:7693 abdominal aortic aneurysm ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:10841519|REF_RGD_ID:6903247 11785447 APOE apolipoprotein E gene DOID:7693 abdominal aortic aneurysm disease_progression ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotypes:cds:p.C112R (rs7412), p.R158C (rs429358) (human) PMID:10848855|REF_RGD_ID:1578483 11785447 APOE apolipoprotein E gene DOID:783 end stage renal disease ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:21705678|REF_RGD_ID:6903287 11785447 APOE apolipoprotein E gene DOID:783 end stage renal disease ISO RGD:736378 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21332332|REF_RGD_ID:6904217 11785447 APOE apolipoprotein E gene DOID:8566 herpes simplex ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:17101197|REF_RGD_ID:7771596 11785447 APOE apolipoprotein E gene DOID:8893 psoriasis ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16433808 11785447 APOE apolipoprotein E gene DOID:8893 psoriasis susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:SNP: :3937C>T(human) PMID:16433808|REF_RGD_ID:7495788 11785447 APOE apolipoprotein E gene DOID:8893 psoriasis susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:19499236|REF_RGD_ID:7771595 11785447 APOE apolipoprotein E gene DOID:893 Wilson disease ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10686180 11785447 APOE apolipoprotein E gene DOID:8947 diabetic retinopathy no_association ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:11495633|REF_RGD_ID:7771553 11785447 APOE apolipoprotein E gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD associated with Diabetic Mellitus type 2;DNA:polymorphism:exon: PMID:16862278|REF_RGD_ID:7771557 11785447 APOE apolipoprotein E gene DOID:9000039 Spinal Cord Injuries ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:30036659|REF_RGD_ID:13703128 11785447 APOE apolipoprotein E gene DOID:9000039 Spinal Cord Injuries ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:18581664|REF_RGD_ID:7771551 11785447 APOE apolipoprotein E gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:736378 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:17438151|PMID:18093987|PMID:19124646|PMID:20720404|PMID:22770994|PMID:22869926|PMID:24330719|PMID:24933211|PMID:29355567|PMID:29425287|PMID:30376133|PMID:30533443|PMID:32081687|PMID:32853627|PMID:34862716 11785447 APOE apolipoprotein E gene DOID:9000185 Coumarin Sensitivity ISO RGD:736378 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: COUMARIN SENSITIVITY PMID:10213549|PMID:10799751|PMID:11835377|PMID:11940689|PMID:11940706|PMID:14741101|PMID:15048896|PMID:15146461|PMID:15184602|PMID:15326261|PMID:15557508|PMID:15668424|PMID:16103896|PMID:16143024|PMID:17289397|PMID:18338393|PMID:18979180|PMID:18987351|PMID:19605830|PMID:19667110|PMID:19846850|PMID:20031551|PMID:20031582|PMID:21742527|PMID:22381401|PMID:22992668|PMID:23060451|PMID:23296339|PMID:23571587|PMID:24033266|PMID:25741868|PMID:27260402|PMID:29842932|PMID:2987927|PMID:2992507|PMID:32376954|PMID:3243553|PMID:3353383|PMID:3922972|PMID:6300187|PMID:7263700|PMID:8294487|PMID:8346443|PMID:8350998|PMID:8618665|PMID:8644717|PMID:9343467|PMID:9649566|PMID:9932938 11785447 APOE apolipoprotein E gene DOID:9000352 Vascular System Injuries ISO RGD:2138 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (rat) PMID:21416056|REF_RGD_ID:5509868 11785447 APOE apolipoprotein E gene DOID:9000352 Vascular System Injuries ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:21163611|REF_RGD_ID:6904145 11785447 APOE apolipoprotein E gene DOID:9000412 Presenile and Senile Dementia ISO RGD:736378 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Presenile and senile dementia PMID:10213549|PMID:10799751|PMID:11835377|PMID:11940689|PMID:11940706|PMID:14741101|PMID:15048896|PMID:15146461|PMID:15184602|PMID:15326261|PMID:15557508|PMID:15668424|PMID:18338393|PMID:18979180|PMID:18987351|PMID:19605830|PMID:19846850|PMID:21742527|PMID:22381401|PMID:23060451|PMID:23296339|PMID:23571587|PMID:24033266|PMID:25741868|PMID:27260402|PMID:29842932|PMID:2987927|PMID:32376954|PMID:3353383|PMID:3922972|PMID:7263700|PMID:8294487|PMID:8346443|PMID:8350998|PMID:8618665|PMID:8644717|PMID:9343467|PMID:9932938 11785447 APOE apolipoprotein E gene DOID:9000528 Coronary Disease ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10736278 11785447 APOE apolipoprotein E gene DOID:9000528 Coronary Disease onset ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:promoter, cds:g.-219G>T, p.C112R, p.R158C (human) PMID:11862316|REF_RGD_ID:1578479 11785447 APOE apolipoprotein E gene DOID:9000784 Fibrosis ISO RGD:736378 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:32081687 11785447 APOE apolipoprotein E gene DOID:9000808 Hypercholesterolemia ISO RGD:736378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar Annotator: match by term: Hypercholesterolemia PMID:16103896|PMID:16143024|PMID:17289397|PMID:19667110|PMID:20031551|PMID:20031582|PMID:22992668|PMID:25741868|PMID:2992507|PMID:3243553|PMID:6300187|PMID:9649566 11785447 APOE apolipoprotein E gene DOID:9000808 Hypercholesterolemia severity ISO RGD:736378 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic; DNA:missense mutations, haplotype:cds:p.C130R, p.C176R (human) PMID:21357213|REF_RGD_ID:6903838 11785447 APOE apolipoprotein E gene DOID:9000808 Hypercholesterolemia susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) PMID:17217375|REF_RGD_ID:1601229 11785447 APOE apolipoprotein E gene DOID:9000918 Disease Progression ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24473795 11785447 APOE apolipoprotein E gene DOID:9000936 Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d ISO RGD:736378 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dysbetalipoproteinemia due to defect in apolipoprotein e-d PMID:11500500|PMID:16103896|PMID:16143024|PMID:16690468|PMID:17289397|PMID:19667110|PMID:20031551|PMID:20031582|PMID:20981092|PMID:22069485|PMID:22992668|PMID:24239320|PMID:24507774|PMID:25502880|PMID:25741868|PMID:26377243|PMID:26802169|PMID:28492532|PMID:28559539|PMID:2992507|PMID:3243553|PMID:33116287|PMID:3745433|PMID:6300187|PMID:7735921|PMID:9157949|PMID:9649566 11785447 APOE apolipoprotein E gene DOID:9000965 Neoplasm Metastasis ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:22469977|REF_RGD_ID:7771597 11785447 APOE apolipoprotein E gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2138 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve (rat) PMID:2419900|REF_RGD_ID:6906875 11785447 APOE apolipoprotein E gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:736378 D RGD:9068941 20200609 RGD mouse model treated with human peptide PMID:20406857|REF_RGD_ID:6906874 11785447 APOE apolipoprotein E gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:15077085|REF_RGD_ID:11039488 11785447 APOE apolipoprotein E gene DOID:9002165 Diabetic Nephropathies ISO RGD:733604 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22859852|REF_RGD_ID:6902935 11785447 APOE apolipoprotein E gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:736378 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, type 1; PMID:11495633|REF_RGD_ID:7771553 11785447 APOE apolipoprotein E gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotype:cds:p.C112R, p.R158C (human) PMID:21127830|REF_RGD_ID:6903840 11785447 APOE apolipoprotein E gene DOID:9002208 Familial Hyperbeta- and Prebetalipoproteinemia ISO RGD:736378 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial hyperbeta- and prebetalipoproteinemia PMID:11500500|PMID:16103896|PMID:16143024|PMID:16690468|PMID:17289397|PMID:19667110|PMID:20031551|PMID:20031582|PMID:20981092|PMID:22069485|PMID:22992668|PMID:24239320|PMID:24507774|PMID:25502880|PMID:25741868|PMID:26377243|PMID:26802169|PMID:28492532|PMID:28559539|PMID:2992507|PMID:3243553|PMID:33116287|PMID:3745433|PMID:6300187|PMID:7735921|PMID:9157949|PMID:9649566 11785447 APOE apolipoprotein E gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:18784741|REF_RGD_ID:11040549 11785447 APOE apolipoprotein E gene DOID:9002231 Fetal Growth Retardation ISO RGD:2138 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland (rat) PMID:19923365|REF_RGD_ID:4891147 11785447 APOE apolipoprotein E gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:736378 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32057829 11785447 APOE apolipoprotein E gene DOID:9002676 Cerebral Hemorrhage ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotype:cds:p.C112R (rs7412) (human) PMID:19251191|REF_RGD_ID:6904207 11785447 APOE apolipoprotein E gene DOID:9002720 Splenomegaly ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11095479 11785447 APOE apolipoprotein E gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:28578430|REF_RGD_ID:13703134 11785447 APOE apolipoprotein E gene DOID:9002775 Cognitive Dysfunction susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:12231459|REF_RGD_ID:7495797 11785447 APOE apolipoprotein E gene DOID:9002822 Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis ISO RGD:736378 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperlipemia with familial hypercholesterolemic xanthomatosis PMID:11500500|PMID:16103896|PMID:16143024|PMID:16690468|PMID:17289397|PMID:19667110|PMID:20031551|PMID:20031582|PMID:20981092|PMID:22069485|PMID:22992668|PMID:24239320|PMID:24507774|PMID:25502880|PMID:25741868|PMID:26377243|PMID:26802169|PMID:28492532|PMID:28559539|PMID:2992507|PMID:3243553|PMID:33116287|PMID:3745433|PMID:6300187|PMID:7735921|PMID:9157949|PMID:9649566 11785447 APOE apolipoprotein E gene DOID:9002884 Emphysema ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24096154 11785447 APOE apolipoprotein E gene DOID:9002955 Nerve Degeneration ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19522546 11785447 APOE apolipoprotein E gene DOID:9003065 Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia ISO RGD:736378 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism 11785447 APOE apolipoprotein E gene DOID:9003281 Spontaneous Abortions ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22266326 11785447 APOE apolipoprotein E gene DOID:9003370 Dyslipidemias ISO RGD:736378 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dyslipidemia 11785447 APOE apolipoprotein E gene DOID:9003468 Apolipoprotein E, Deficiency or Defect of ISO RGD:736378 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Apolipoprotein e, deficiency or defect of PMID:11500500|PMID:16103896|PMID:16143024|PMID:16690468|PMID:17289397|PMID:19667110|PMID:20031551|PMID:20031582|PMID:20981092|PMID:22069485|PMID:22992668|PMID:24239320|PMID:24507774|PMID:25502880|PMID:25741868|PMID:26377243|PMID:26802169|PMID:28492532|PMID:28559539|PMID:2992507|PMID:3243553|PMID:33116287|PMID:3745433|PMID:6300187|PMID:7735921|PMID:9157949|PMID:9649566 11785447 APOE apolipoprotein E gene DOID:9003556 Floating-Betalipoproteinemia ISO RGD:736378 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Floating-betalipoproteinemia PMID:11500500|PMID:16103896|PMID:16143024|PMID:16690468|PMID:17289397|PMID:19667110|PMID:20031551|PMID:20031582|PMID:20981092|PMID:22069485|PMID:22992668|PMID:24239320|PMID:24507774|PMID:25502880|PMID:25741868|PMID:26377243|PMID:26802169|PMID:28492532|PMID:28559539|PMID:2992507|PMID:3243553|PMID:33116287|PMID:3745433|PMID:6300187|PMID:7735921|PMID:9157949|PMID:9649566 11785447 APOE apolipoprotein E gene DOID:9003709 Mercury Poisoning ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16891999 11785447 APOE apolipoprotein E gene DOID:9003828 Klebsiella Infections severity ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:10998083|REF_RGD_ID:11039489 11785447 APOE apolipoprotein E gene DOID:9003870 Herpes Simplex Encephalitis susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:11118260|REF_RGD_ID:7771554 11785447 APOE apolipoprotein E gene DOID:9003871 Venous Thrombosis ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:22119245|REF_RGD_ID:6903200 11785447 APOE apolipoprotein E gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:12143056|REF_RGD_ID:7495764 11785447 APOE apolipoprotein E gene DOID:9004538 Hearing Loss ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19738398 11785447 APOE apolipoprotein E gene DOID:9004769 Broad-Betalipoproteinemia ISO RGD:736378 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Broad beta disease | ClinVar Annotator: match by term: Broad-betalipoproteinemia PMID:11500500|PMID:16103896|PMID:16143024|PMID:16690468|PMID:17289397|PMID:19667110|PMID:20031551|PMID:20031582|PMID:20981092|PMID:22069485|PMID:22992668|PMID:24239320|PMID:24507774|PMID:25502880|PMID:25741868|PMID:26377243|PMID:26802169|PMID:28492532|PMID:28559539|PMID:2992507|PMID:3243553|PMID:33116287|PMID:3745433|PMID:6300187|PMID:7735921|PMID:9157949|PMID:9649566 11785447 APOE apolipoprotein E gene DOID:9005172 Lung Neoplasms ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19180532|PMID:20430468 11785447 APOE apolipoprotein E gene DOID:9005179 Chronic Brain Injury susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:9214529|REF_RGD_ID:7495763 11785447 APOE apolipoprotein E gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:22469977|REF_RGD_ID:7771597 11785447 APOE apolipoprotein E gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16030523 11785447 APOE apolipoprotein E gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2138 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (rat) PMID:16947119|REF_RGD_ID:1599198 11785447 APOE apolipoprotein E gene DOID:9005930 Endotoxemia ISO RGD:736378 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:9153287|REF_RGD_ID:6904216 11785447 APOE apolipoprotein E gene DOID:9006599 Hypertriglyceridemia ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:28808185|REF_RGD_ID:13703132 11785447 APOE apolipoprotein E gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X; DNA:missense mutations:cds:p.C112R, p.R158C (human) PMID:15713714|REF_RGD_ID:1601235 11785447 APOE apolipoprotein E gene DOID:9006832 Puromycin Aminonucleoside Nephrosis ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:8413767|REF_RGD_ID:11040583 11785447 APOE apolipoprotein E gene DOID:9007102 Myocardial Ischemia susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-219G>T (human) PMID:17006673|REF_RGD_ID:1601238 11785447 APOE apolipoprotein E gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 11785447 APOE apolipoprotein E gene DOID:9007479 Habitual Abortions ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:19086990|REF_RGD_ID:11039490 11785447 APOE apolipoprotein E gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:2138 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, synapse PMID:28620701|REF_RGD_ID:13703133 11785447 APOE apolipoprotein E gene DOID:9007973 Genetic Translocation ISO RGD:736378 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:34670124 11785447 APOE apolipoprotein E gene DOID:9008023 Memory Disorders ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:8584214|REF_RGD_ID:12904706 11785447 APOE apolipoprotein E gene DOID:9008023 Memory Disorders ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) PMID:11714102|REF_RGD_ID:1578426 11785447 APOE apolipoprotein E gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.C112R, p.R158C (human) PMID:20961200|REF_RGD_ID:14401585 11785447 APOE apolipoprotein E gene DOID:9008549 Lipoprotein Glomerulopathy ISO RGD:736378 D RGD:7240710 20230517 OMIM 11785447 APOE apolipoprotein E gene DOID:9008549 Lipoprotein Glomerulopathy ISO RGD:736378 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lipoprotein glomerulopathy PMID:10213549|PMID:10432380|PMID:10799751|PMID:10903326|PMID:11835377|PMID:11940689|PMID:11940706|PMID:14741101|PMID:15048896|PMID:15146461|PMID:15184602|PMID:15256764|PMID:15326261|PMID:15557508|PMID:15668424|PMID:18077821|PMID:18338393|PMID:18979180|PMID:18987351|PMID:19605830|PMID:19846850|PMID:2101409|PMID:21742527|PMID:22381401|PMID:23060451|PMID:23296339|PMID:23571587|PMID:24033266|PMID:25741868|PMID:27260402|PMID:28492532|PMID:29842932|PMID:2987927|PMID:32376954|PMID:3243553|PMID:3353383|PMID:3922972|PMID:7263700|PMID:8294487|PMID:8346443|PMID:8350998|PMID:8618665|PMID:8644717|PMID:9176854|PMID:9343467|PMID:9932938 11785447 APOE apolipoprotein E gene DOID:9008808 Pregnancy Complications, Infectious treatment ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:22341339|REF_RGD_ID:12904700 11785447 APOE apolipoprotein E gene DOID:9120 amyloidosis ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15993987 11785447 APOE apolipoprotein E gene DOID:9246 cerebral amyloid angiopathy ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11061249 11785447 APOE apolipoprotein E gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:22762542|REF_RGD_ID:6903856 11785447 APOE apolipoprotein E gene DOID:9351 diabetes mellitus treatment ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:17192461|REF_RGD_ID:1601230 11785447 APOE apolipoprotein E gene DOID:9352 type 2 diabetes mellitus ISO RGD:736378 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic islet PMID:18950899|REF_RGD_ID:2317556 11785447 APOE apolipoprotein E gene DOID:9452 fatty liver disease ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:29459263|REF_RGD_ID:13703129 11785447 APOE apolipoprotein E gene DOID:9452 fatty liver disease ISO RGD:736378 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32853627 11785447 APOE apolipoprotein E gene DOID:9538 multiple myeloma treatment ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:22348216|REF_RGD_ID:11040544 11785447 APOE apolipoprotein E gene DOID:9744 type 1 diabetes mellitus ISO RGD:736378 D RGD:9068941 20200609 RGD protein:decreased expression:urine (human) PMID:22678621|REF_RGD_ID:6903197 11785447 APOE apolipoprotein E gene DOID:9970 obesity ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:17192461|REF_RGD_ID:1601230 11785447 APOE apolipoprotein E gene DOID:9970 obesity ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20975297 11785447 APOE apolipoprotein E gene DOID:9970 obesity ISO RGD:736378 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9002300|REF_RGD_ID:1601191 11785455 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:0111674 intellectual developmental disorder with short stature and behavioral abnormalities ISO RGD:1343743 D RGD:7240710 20200115 OMIM 11785455 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:0111674 intellectual developmental disorder with short stature and behavioral abnormalities ISO RGD:1343743 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with short stature and behavioral abnormalities PMID:25741868|PMID:28492532|PMID:31607425 11785455 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:1059 intellectual disability ISO RGD:1343743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11785455 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1343743 D RGD:9068941 20220908 RGD mRNA:decreased expression:lung (human) PMID:22491060|REF_RGD_ID:153350086 11785455 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:2543,RGD:621279 D RGD:9068941 20220908 RGD PMID:24902879|REF_RGD_ID:153350085 11785455 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:630 genetic disease ISO RGD:1343743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11785455 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1343743 D RGD:9068941 20220901 RGD associated with lung adenocarcinoma; protein:increased expression:lung (human) PMID:21966491|REF_RGD_ID:153344600 11785455 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 11785455 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1343743 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 11785455 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:9006618 Liver Metastasis ISO RGD:1343743 D RGD:9068941 20220901 RGD human cells in mouse model PMID:22662237|REF_RGD_ID:153344589 11785455 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:9008582 Developmental Disease ISO RGD:1343743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11785455 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:9009121 lung metastasis ISO RGD:1343743 D RGD:9068941 20220901 RGD human cells in mouse model PMID:18084281|REF_RGD_ID:153344604 11785474 AOX1 aldehyde oxidase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:733539 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11785474 AOX1 aldehyde oxidase 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:733539 D RGD:9068941 20200609 RGD PMID:7570184|REF_RGD_ID:734575 11785474 AOX1 aldehyde oxidase 1 gene DOID:630 genetic disease ISO RGD:733539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11785474 AOX1 aldehyde oxidase 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:733539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 11785474 AOX1 aldehyde oxidase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733539 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 11785474 AOX1 aldehyde oxidase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11785513 SPATS2L spermatogenesis associated serine rich 2 like gene DOID:0060224 atrial fibrillation ISO RGD:1607063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11785513 SPATS2L spermatogenesis associated serine rich 2 like gene DOID:0080600 COVID-19 ISO RGD:1607063 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11785513 SPATS2L spermatogenesis associated serine rich 2 like gene DOID:630 genetic disease ISO RGD:1607063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11785513 SPATS2L spermatogenesis associated serine rich 2 like gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1607063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 11785513 SPATS2L spermatogenesis associated serine rich 2 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11785573 PYCR2 pyrroline-5-carboxylate reductase 2 gene DOID:0060788 hypomyelinating leukodystrophy 10 ISO RGD:1320768 D RGD:7240710 20180130 OMIM 11785573 PYCR2 pyrroline-5-carboxylate reductase 2 gene DOID:0060788 hypomyelinating leukodystrophy 10 ISO RGD:1320768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 10 PMID:25741868|PMID:25865492|PMID:27130255|PMID:27860360|PMID:28492532 11785573 PYCR2 pyrroline-5-carboxylate reductase 2 gene DOID:10907 microcephaly ISO RGD:1320768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11785573 PYCR2 pyrroline-5-carboxylate reductase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1320768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11785573 PYCR2 pyrroline-5-carboxylate reductase 2 gene DOID:630 genetic disease ISO RGD:1320768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11785573 PYCR2 pyrroline-5-carboxylate reductase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11785587 SUPV3L1 Suv3 like RNA helicase gene DOID:1697 ichthyosis ISO RGD:1313667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19145458 11785587 SUPV3L1 Suv3 like RNA helicase gene DOID:630 genetic disease ISO RGD:1313667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11785587 SUPV3L1 Suv3 like RNA helicase gene DOID:9001946 Skin Abnormalities ISO RGD:1313667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19145458 11785587 SUPV3L1 Suv3 like RNA helicase gene DOID:9008824 Sarcopenia ISO RGD:1313667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19145458 11785587 SUPV3L1 Suv3 like RNA helicase gene DOID:987 alopecia ISO RGD:1313667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19145458 11785610 TAOK2 TAO kinase 2 gene DOID:0060019 coronin-1A deficiency ISO RGD:1351729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11785610 TAOK2 TAO kinase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1351729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 11785610 TAOK2 TAO kinase 2 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1351729 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 11785610 TAOK2 TAO kinase 2 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1351729 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 11785610 TAOK2 TAO kinase 2 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1351729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11785610 TAOK2 TAO kinase 2 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1351729 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 11785610 TAOK2 TAO kinase 2 gene DOID:12849 autistic disorder ISO RGD:1351729 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:25741868|PMID:30208311 11785610 TAOK2 TAO kinase 2 gene DOID:1882 atrial heart septal defect ISO RGD:1351729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 11785610 TAOK2 TAO kinase 2 gene DOID:5419 schizophrenia ISO RGD:1351729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11785610 TAOK2 TAO kinase 2 gene DOID:630 genetic disease ISO RGD:1351729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11785610 TAOK2 TAO kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1351729 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 11785610 TAOK2 TAO kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11785610 TAOK2 TAO kinase 2 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1351729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11785610 TAOK2 TAO kinase 2 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1351729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 11785645 MPIG6B megakaryocyte and platelet inhibitory receptor G6b gene DOID:0050553 JMP syndrome ISO RGD:1354388 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11785645 MPIG6B megakaryocyte and platelet inhibitory receptor G6b gene DOID:2213 hemorrhagic disease ISO RGD:1354388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 11785645 MPIG6B megakaryocyte and platelet inhibitory receptor G6b gene DOID:9002422 Thrombocytopenia, Anemia, and Myelofibrosis ISO RGD:1354388 D RGD:7240710 20190315 OMIM 11785645 MPIG6B megakaryocyte and platelet inhibitory receptor G6b gene DOID:9002422 Thrombocytopenia, Anemia, and Myelofibrosis ISO RGD:1354388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia, anemia, and myelofibrosis PMID:25741868|PMID:27743390 11785668 SUPT7L SPT7 like, STAGA complex subunit gamma gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1602227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11785668 SUPT7L SPT7 like, STAGA complex subunit gamma gene DOID:630 genetic disease ISO RGD:1602227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11785691 ARHGAP36 Rho GTPase activating protein 36 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11785691 ARHGAP36 Rho GTPase activating protein 36 gene DOID:12849 autistic disorder ISO RGD:1603262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11785691 ARHGAP36 Rho GTPase activating protein 36 gene DOID:630 genetic disease ISO RGD:1603262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11785716 BET1L Bet1 golgi vesicular membrane trafficking protein like gene DOID:13223 uterine fibroid ISO RGD:1602713 D RGD:9068941 20200609 RGD DNA:SNP:rs2280543(human) PMID:23892540|REF_RGD_ID:14394614 11785716 BET1L Bet1 golgi vesicular membrane trafficking protein like gene DOID:2870 endometrial adenocarcinoma disease_progression ISO RGD:1602713 D RGD:9068941 20200609 RGD PMID:28654152|REF_RGD_ID:14394612 11785716 BET1L Bet1 golgi vesicular membrane trafficking protein like gene DOID:630 genetic disease ISO RGD:1602713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11785724 LOC100975727 olfactory receptor 5A2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1349600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11785724 LOC100975727 olfactory receptor 5A2 gene DOID:1059 intellectual disability ISO RGD:1349600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11785724 LOC100975727 olfactory receptor 5A2 gene DOID:630 genetic disease ISO RGD:1349600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11785729 HCK HCK proto-oncogene, Src family tyrosine kinase gene DOID:0080600 COVID-19 ISO RGD:732471 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33617879 11785729 HCK HCK proto-oncogene, Src family tyrosine kinase gene DOID:14566 disease of cellular proliferation ISO RGD:732471 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33617879 11785729 HCK HCK proto-oncogene, Src family tyrosine kinase gene DOID:417 autoimmune disease ISO RGD:732471 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33617879 11785729 HCK HCK proto-oncogene, Src family tyrosine kinase gene DOID:630 genetic disease ISO RGD:732471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11785729 HCK HCK proto-oncogene, Src family tyrosine kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11785729 HCK HCK proto-oncogene, Src family tyrosine kinase gene DOID:9005765 Autoinflammation with Pulmonary and Cutaneous Vasculitis ISO RGD:732471 D RGD:7240710 20230505 OMIM 11785729 HCK HCK proto-oncogene, Src family tyrosine kinase gene DOID:9005765 Autoinflammation with Pulmonary and Cutaneous Vasculitis ISO RGD:732471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autoinflammation with pulmonary and cutaneous vasculitis PMID:34536415 11785729 HCK HCK proto-oncogene, Src family tyrosine kinase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:732471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17344919 11785748 KDELR2 KDEL endoplasmic reticulum protein retention receptor 2 gene DOID:0112201 osteogenesis imperfecta type 21 ISO RGD:1312161 D RGD:7240710 20201223 OMIM 11785748 KDELR2 KDEL endoplasmic reticulum protein retention receptor 2 gene DOID:0112201 osteogenesis imperfecta type 21 ISO RGD:1312161 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type 21 PMID:25741868|PMID:33053334|PMID:33964184 11785748 KDELR2 KDEL endoplasmic reticulum protein retention receptor 2 gene DOID:630 genetic disease ISO RGD:1312161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11785761 OPALIN oligodendrocytic myelin paranodal and inner loop protein gene DOID:630 genetic disease ISO RGD:1317163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11785793 RBM34 RNA binding motif protein 34 gene DOID:1540 parathyroid carcinoma ISO RGD:1602128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11785793 RBM34 RNA binding motif protein 34 gene DOID:630 genetic disease ISO RGD:1602128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11785793 RBM34 RNA binding motif protein 34 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11785808 DENND5A DENN domain containing 5A gene DOID:0080441 developmental and epileptic encephalopathy 49 ISO RGD:1315561 D RGD:7240710 20190315 OMIM 11785808 DENND5A DENN domain containing 5A gene DOID:0080441 developmental and epileptic encephalopathy 49 ISO RGD:1315561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 49 PMID:25741868|PMID:27431290|PMID:27866705|PMID:28492532 11785808 DENND5A DENN domain containing 5A gene DOID:1826 epilepsy ISO RGD:1315561 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:27431290|PMID:27866705|PMID:28492532 11785808 DENND5A DENN domain containing 5A gene DOID:630 genetic disease ISO RGD:1315561 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27431290|PMID:27866705|PMID:28492532 11785840 KCTD13 potassium channel tetramerization domain containing 13 gene DOID:0060019 coronin-1A deficiency ISO RGD:1345683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11785840 KCTD13 potassium channel tetramerization domain containing 13 gene DOID:0060041 autism spectrum disorder ISO RGD:1345683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 11785840 KCTD13 potassium channel tetramerization domain containing 13 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1345683 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 11785840 KCTD13 potassium channel tetramerization domain containing 13 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1345683 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 11785840 KCTD13 potassium channel tetramerization domain containing 13 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1345683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11785840 KCTD13 potassium channel tetramerization domain containing 13 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1345683 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 11785840 KCTD13 potassium channel tetramerization domain containing 13 gene DOID:12849 autistic disorder ISO RGD:1345683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11785840 KCTD13 potassium channel tetramerization domain containing 13 gene DOID:1882 atrial heart septal defect ISO RGD:1345683 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 11785840 KCTD13 potassium channel tetramerization domain containing 13 gene DOID:5419 schizophrenia ISO RGD:1345683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11785840 KCTD13 potassium channel tetramerization domain containing 13 gene DOID:630 genetic disease ISO RGD:1345683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11785840 KCTD13 potassium channel tetramerization domain containing 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11785840 KCTD13 potassium channel tetramerization domain containing 13 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1345683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11785840 KCTD13 potassium channel tetramerization domain containing 13 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1345683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 11785850 CLN8 CLN8 transmembrane ER and ERGIC protein gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:1346223 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1 PMID:28492532|PMID:29503925 11785850 CLN8 CLN8 transmembrane ER and ERGIC protein gene DOID:0110723 neuronal ceroid lipofuscinosis 8 ISO RGD:1346223 D RGD:7240710 20180130 OMIM 11785850 CLN8 CLN8 transmembrane ER and ERGIC protein gene DOID:0110723 neuronal ceroid lipofuscinosis 8 ISO RGD:1346223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8 PMID:10508524|PMID:10861296|PMID:11589000|PMID:15024724|PMID:15074367|PMID:15160397|PMID:16570191|PMID:16828266|PMID:19201763|PMID:19431184|PMID:19807737|PMID:20301601|PMID:21990111|PMID:22220808|PMID:23374165|PMID:24767253|PMID:25326637|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26443629|PMID:26467025|PMID:26657971|PMID:27553520|PMID:27884173|PMID:28116333|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29503925|PMID:29915382|PMID:29961513|PMID:30397314|PMID:30741402|PMID:30919163|PMID:31130284|PMID:31741823 11785850 CLN8 CLN8 transmembrane ER and ERGIC protein gene DOID:0110724 neuronal ceroid lipofuscinosis 8 northern epilepsy variant ISO RGD:1346223 D RGD:7240710 20181017 OMIM 11785850 CLN8 CLN8 transmembrane ER and ERGIC protein gene DOID:0110724 neuronal ceroid lipofuscinosis 8 northern epilepsy variant ISO RGD:1346223 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8 northern epilepsy variant PMID:10508524|PMID:10861296|PMID:11589000|PMID:15024724|PMID:15074367|PMID:15160397|PMID:16570191|PMID:16828266|PMID:19431184|PMID:19807737|PMID:20301601|PMID:21990111|PMID:23374165|PMID:25326637|PMID:25741868|PMID:26075876|PMID:26467025|PMID:27884173|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29503925|PMID:29961513|PMID:31741823 11785850 CLN8 CLN8 transmembrane ER and ERGIC protein gene DOID:1059 intellectual disability ISO RGD:1346223 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21990111|PMID:25741868|PMID:26467025|PMID:28454995|PMID:28492532|PMID:29961513|PMID:31741823 11785850 CLN8 CLN8 transmembrane ER and ERGIC protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1346223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10508524|PMID:10861296|PMID:11589000|PMID:15024724|PMID:15074367|PMID:15160397|PMID:16570191|PMID:16828266|PMID:18414213|PMID:19431184|PMID:19807737|PMID:2199011|PMID:21990111|PMID:22220808|PMID:23374165|PMID:24767253|PMID:25326637|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26467025|PMID:26657971|PMID:27553520|PMID:27884173|PMID:28116333|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29503925|PMID:30741402|PMID:30919163 11785850 CLN8 CLN8 transmembrane ER and ERGIC protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1346223 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10508524|PMID:10861296|PMID:11589000|PMID:15024724|PMID:15074367|PMID:15160397|PMID:16570191|PMID:16828266|PMID:18414213|PMID:19431184|PMID:19807737|PMID:2199011|PMID:21990111|PMID:22220808|PMID:23374165|PMID:24767253|PMID:25326637|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26467025|PMID:26657971|PMID:27553520|PMID:27884173|PMID:28116333|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29503925|PMID:29961513|PMID:30741402|PMID:30919163|PMID:31741823 11785850 CLN8 CLN8 transmembrane ER and ERGIC protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1346223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10508524|PMID:10861296|PMID:11589000|PMID:15024724|PMID:15074367|PMID:15160397|PMID:16570191|PMID:16828266|PMID:17576681|PMID:18414213|PMID:19201763|PMID:19431184|PMID:19807737|PMID:20301601|PMID:21990111|PMID:22220808|PMID:23374165|PMID:24767253|PMID:25326637|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26443629|PMID:26467025|PMID:26657971|PMID:27553520|PMID:27884173|PMID:28116333|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29503925|PMID:29915382|PMID:29961513|PMID:30397314|PMID:30741402|PMID:30919163|PMID:31130284|PMID:31741823|PMID:33358637|PMID:9536098 11785850 CLN8 CLN8 transmembrane ER and ERGIC protein gene DOID:1826 epilepsy ISO RGD:1346223 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:21990111|PMID:25741868|PMID:26467025|PMID:26657971|PMID:28454995|PMID:28492532|PMID:29503925 11785850 CLN8 CLN8 transmembrane ER and ERGIC protein gene DOID:1826 epilepsy ISO RGD:1346223 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:21990111|PMID:25741868|PMID:26467025|PMID:26657971|PMID:28454995|PMID:28492532|PMID:29503925|PMID:29961513|PMID:31741823 11785850 CLN8 CLN8 transmembrane ER and ERGIC protein gene DOID:1826 epilepsy ISO RGD:1346223 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:26443629|PMID:28492532 11785850 CLN8 CLN8 transmembrane ER and ERGIC protein gene DOID:3529 central core disease ISO RGD:1346223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central core myopathy PMID:21990111|PMID:25741868|PMID:26467025|PMID:28492532 11785850 CLN8 CLN8 transmembrane ER and ERGIC protein gene DOID:630 genetic disease ISO RGD:1346223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10508524|PMID:10861296|PMID:15024724|PMID:16570191|PMID:19431184|PMID:21990111|PMID:22220808|PMID:25741868|PMID:26075876|PMID:26443629|PMID:26467025|PMID:26657971|PMID:27884173|PMID:28116333|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29503925|PMID:29961513|PMID:31130284|PMID:31741823 11785850 CLN8 CLN8 transmembrane ER and ERGIC protein gene DOID:9006205 Animal Disease Models ISO RGD:1346223 D RGD:9068941 20211015 CTD CTD Direct Evidence: marker/mechanism PMID:22302580 11785874 DRC1 dynein regulatory complex subunit 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1605894 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:25741868 11785874 DRC1 dynein regulatory complex subunit 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1617201 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 11785874 DRC1 dynein regulatory complex subunit 1 gene DOID:0110596 primary ciliary dyskinesia 21 ISO RGD:1605894 D RGD:7240710 20180130 OMIM 11785874 DRC1 dynein regulatory complex subunit 1 gene DOID:0110596 primary ciliary dyskinesia 21 ISO RGD:1605894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 21 PMID:12746204|PMID:16199547|PMID:23354437|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31213628|PMID:31270959|PMID:31701675|PMID:31960620 11785874 DRC1 dynein regulatory complex subunit 1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1605894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11785874 DRC1 dynein regulatory complex subunit 1 gene DOID:630 genetic disease ISO RGD:1605894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11785874 DRC1 dynein regulatory complex subunit 1 gene DOID:9000573 Spermatogenic Failure 80 ISO RGD:1605894 D RGD:7240710 20230215 OMIM 11785874 DRC1 dynein regulatory complex subunit 1 gene DOID:9000573 Spermatogenic Failure 80 ISO RGD:1605894 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 80 PMID:34169321 11785874 DRC1 dynein regulatory complex subunit 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:12746204|PMID:16199547|PMID:17576681|PMID:23354437|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31213628|PMID:31270959|PMID:31701675|PMID:31960620|PMID:9536098 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0050902 medulloblastoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:737145 D RGD:9068941 20200609 RGD DNA:mutation: : PMID:24936872|REF_RGD_ID:11522722 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0060058 lymphoma ISO RGD:737145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoma 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0060221 Maffucci syndrome ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: MULTIPLE ENCHONDROMATOSIS, MAFFUCCI TYPE PMID:19657110|PMID:20946881|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:737145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737145 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0080600 COVID-19 ISO RGD:737145 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0111537 paroxysmal extreme pain disorder ISO RGD:737145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal extreme pain disorder PMID:25741868|PMID:34298581 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:737145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:1909 melanoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:2256 osteochondrodysplasia ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Dyschondroplasia PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:737145 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:255 hemangioma ISO RGD:737145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22057234 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:2602 chondroma ISO RGD:737145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22057234|PMID:25895133 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:2671 transitional cell carcinoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3068 glioblastoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, somatic PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3068 glioblastoma disease_progression ISO RGD:737145 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.R132(human) PMID:25495392|REF_RGD_ID:11074562 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3068 glioblastoma onset ISO RGD:737145 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.R132H(human) PMID:19765000|REF_RGD_ID:11522732 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3070 high grade glioma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3070 high grade glioma susceptibility ISO RGD:737145 D RGD:7240710 20190502 OMIM 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3181 oligodendroglioma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Oligodendroglioma PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:36201590 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:737145 D RGD:9068941 20210723 RGD protein:increased expression:blood plasma (human) PMID:24046070|REF_RGD_ID:149735540 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3910 lung adenocarcinoma ISO RGD:737145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3910 lung adenocarcinoma ISO RGD:737145 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3910 lung adenocarcinoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:737145 D RGD:9068941 20210723 RGD mRNA:increased expression:lung (human) PMID:29537891|REF_RGD_ID:149735539 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:737145 D RGD:9068941 20210723 RGD protein:increased expression:blood plasma (human) PMID:24046070|REF_RGD_ID:149735540 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:417 autoimmune disease ISO RGD:737145 D RGD:9068941 20200609 RGD associated with intrahepatic cholangiocarcinoma; DNA:missense mutations:cds:p. R132C, R132G, and R132L (human) PMID:31121195|REF_RGD_ID:14974230 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:4624 Ollier disease ISO RGD:737145 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Enchondromatosis | ClinVar Annotator: match by term: Kast Syndrome | ClinVar Annotator: match by term: Multiple enchondromatosis PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:24728327|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:4928 intrahepatic cholangiocarcinoma no_association ISO RGD:737145 D RGD:9068941 20200609 RGD DNA:misssense mutations:cds:p.Arg132Cys,Arg132Leu (human) PMID:26245674|REF_RGD_ID:14974229 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:4947 cholangiocarcinoma ISO RGD:737145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24185509 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:5016 hepatocellular clear cell carcinoma disease_progression ISO RGD:737145 D RGD:9068941 20200609 RGD DNA:misssense mutation:cds:p.Arg132Cys(human) PMID:28403884|REF_RGD_ID:14974227 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:5016 hepatocellular clear cell carcinoma disease_progression ISO RGD:737145 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs12478635(human) PMID:25355558|REF_RGD_ID:14974228 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:630 genetic disease ISO RGD:737145 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:6536 plasma cell neoplasm ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:684 hepatocellular carcinoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:8923 skin melanoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9003571 Paraproteinemias ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9004590 Acute Liver Failure ISO RGD:737145 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:737145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9005837 Cholangiofibrosis severity ISO RGD:737145 D RGD:9068941 20200609 RGD associated with intrahepatic cholangiocarcinoma; DNA:missense mutations:cds:p. R132C, R132G, and R132L (human) PMID:31121195|REF_RGD_ID:14974230 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9007502 Brain Neoplasms ISO RGD:737145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brain neoplasm PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9007502 Brain Neoplasms ISO RGD:737145 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brain Neoplasms PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9007502 Brain Neoplasms ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Brain Neoplasms PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737145 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9119 acute myeloid leukemia ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:29950729|PMID:30231226|PMID:36201590 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:737145 D RGD:9068941 20200609 RGD DNA:SNP::105C>T (rs11554137)(human) PMID:25324972|REF_RGD_ID:11522721 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:737145 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.R132(human) PMID:20368543|REF_RGD_ID:11522718 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9538 multiple myeloma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:737145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22674224 11785899 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9970 obesity ISO RGD:10758 D RGD:9068941 20200609 RGD PMID:14969338|REF_RGD_ID:1626475 11785918 TMEM175 transmembrane protein 175 gene DOID:1856 cherubism ISO RGD:1604263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11785918 TMEM175 transmembrane protein 175 gene DOID:630 genetic disease ISO RGD:1604263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11785918 TMEM175 transmembrane protein 175 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1604263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 11785959 CDK2 cyclin dependent kinase 2 gene DOID:10283 prostate cancer ISO RGD:1352010 D RGD:9068941 20200609 RGD PMID:16648554|REF_RGD_ID:2293560 11785959 CDK2 cyclin dependent kinase 2 gene DOID:1612 breast cancer disease_progression ISO RGD:1352010 D RGD:9068941 20200609 RGD PMID:18236071|REF_RGD_ID:2293557 11785959 CDK2 cyclin dependent kinase 2 gene DOID:1909 melanoma ISO RGD:1352010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21559390 11785959 CDK2 cyclin dependent kinase 2 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:70486 D RGD:9068941 20200609 RGD PMID:17893107|REF_RGD_ID:2293563 11785959 CDK2 cyclin dependent kinase 2 gene DOID:4450 renal cell carcinoma ISO RGD:1352010 D RGD:9068941 20200609 RGD PMID:16740772|REF_RGD_ID:2293561 11785959 CDK2 cyclin dependent kinase 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1352010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29464035 11785959 CDK2 cyclin dependent kinase 2 gene DOID:630 genetic disease ISO RGD:1352010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11785959 CDK2 cyclin dependent kinase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70486 D RGD:9068941 20200609 RGD PMID:16534847|REF_RGD_ID:2289284 11785959 CDK2 cyclin dependent kinase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1352010 D RGD:9068941 20200609 RGD DNA, mRNA:amplification, increased expression:ovary PMID:9426687|REF_RGD_ID:2298989 11785959 CDK2 cyclin dependent kinase 2 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1352010 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:11585414|REF_RGD_ID:2298988 11785959 CDK2 cyclin dependent kinase 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1352010 D RGD:9068941 20200609 RGD mRNA:decreased expression:uterine cervix PMID:18299147|REF_RGD_ID:2296067 11785959 CDK2 cyclin dependent kinase 2 gene DOID:9004265 Endometrioid Carcinomas severity ISO RGD:1352010 D RGD:9068941 20200609 RGD PMID:9673386|REF_RGD_ID:2298990 11785959 CDK2 cyclin dependent kinase 2 gene DOID:9004994 Embryo Loss ISO RGD:1352010 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038060 11785959 CDK2 cyclin dependent kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:70501 D RGD:9068941 20200609 RGD PMID:16924466|REF_RGD_ID:2293558 11785959 CDK2 cyclin dependent kinase 2 gene DOID:9005396 Intimal Hyperplasia treatment ISO RGD:70501 D RGD:9068941 20200609 RGD PMID:8104336|REF_RGD_ID:10448975 11785959 CDK2 cyclin dependent kinase 2 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1352010 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:33727089 11785959 CDK2 cyclin dependent kinase 2 gene DOID:9007479 Habitual Abortions ISO RGD:1352010 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038060 11785959 CDK2 cyclin dependent kinase 2 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:1352010 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:17483252|REF_RGD_ID:2289230 11785959 CDK2 cyclin dependent kinase 2 gene DOID:9008091 Optic Nerve Injuries ISO RGD:70486 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:16723461|REF_RGD_ID:2293567 11785973 FAP fibroblast activation protein alpha gene DOID:12849 autistic disorder ISO RGD:732069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213|PMID:25741868 11785973 FAP fibroblast activation protein alpha gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732069 D RGD:9068941 20220526 RGD protein:increased expression: esophagus PMID:24789592|REF_RGD_ID:152600903 11785973 FAP fibroblast activation protein alpha gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:732069 D RGD:9068941 20220526 RGD PMID:26252379|REF_RGD_ID:152600901 11785973 FAP fibroblast activation protein alpha gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:732069 D RGD:9068941 20220526 RGD PMID:29415055|REF_RGD_ID:152600902 11785973 FAP fibroblast activation protein alpha gene DOID:630 genetic disease ISO RGD:732069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11786002 CLPSL2 colipase like 2 gene DOID:0050553 JMP syndrome ISO RGD:1605196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11786002 CLPSL2 colipase like 2 gene DOID:630 genetic disease ISO RGD:1605196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11786009 SLC9A5 solute carrier family 9 member A5 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:732088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11786009 SLC9A5 solute carrier family 9 member A5 gene DOID:630 genetic disease ISO RGD:732088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11786009 SLC9A5 solute carrier family 9 member A5 gene DOID:684 hepatocellular carcinoma ISO RGD:732088 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 11786009 SLC9A5 solute carrier family 9 member A5 gene DOID:783 end stage renal disease resistance ISO RGD:732088 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:10642288|REF_RGD_ID:1643221 11786029 CNKSR2 connector enhancer of kinase suppressor of Ras 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11786029 CNKSR2 connector enhancer of kinase suppressor of Ras 2 gene DOID:0080242 syndromic X-linked mental retardation Hough type ISO RGD:1350323 D RGD:7240710 20190315 OMIM 11786029 CNKSR2 connector enhancer of kinase suppressor of Ras 2 gene DOID:0080242 syndromic X-linked mental retardation Hough type ISO RGD:1350323 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HOUGE TYPE PMID:25223753|PMID:25644381|PMID:25741868|PMID:28098945|PMID:28492532 11786029 CNKSR2 connector enhancer of kinase suppressor of Ras 2 gene DOID:1059 intellectual disability ISO RGD:1350323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11786029 CNKSR2 connector enhancer of kinase suppressor of Ras 2 gene DOID:12849 autistic disorder ISO RGD:1350323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11786029 CNKSR2 connector enhancer of kinase suppressor of Ras 2 gene DOID:630 genetic disease ISO RGD:1350323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11786029 CNKSR2 connector enhancer of kinase suppressor of Ras 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11786029 CNKSR2 connector enhancer of kinase suppressor of Ras 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 11786066 LDAH lipid droplet associated hydrolase gene DOID:630 genetic disease ISO RGD:1605056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11786066 LDAH lipid droplet associated hydrolase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20676098 11786090 MRS2 magnesium transporter MRS2 gene DOID:0060175 succinic semialdehyde dehydrogenase deficiency ISO RGD:732788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency PMID:28492532 11786090 MRS2 magnesium transporter MRS2 gene DOID:3213 demyelinating disease ISO RGD:708529 D RGD:9068941 20200609 RGD DNA:missense mutation:intron(rat) PMID:21253565|REF_RGD_ID:12793070 11786090 MRS2 magnesium transporter MRS2 gene DOID:630 genetic disease ISO RGD:732788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11786103 CDH1 cadherin 1 gene DOID:0050567 orofacial cleft ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft lip/palate | ClinVar Annotator: match by term: Orofacial cleft PMID:12800196|PMID:20921021|PMID:22470475|PMID:23197654|PMID:24033266|PMID:2449335|PMID:24493355|PMID:24728327|PMID:25593300|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26072394|PMID:26123647|PMID:26467025|PMID:26483394|PMID:26759166|PMID:27146957|PMID:27153395|PMID:27443514|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28640387|PMID:28944238|PMID:29348693|PMID:32260281 11786103 CDH1 cadherin 1 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:737413 D RGD:9068941 20200609 RGD PMID:26464646|REF_RGD_ID:11526681 11786103 CDH1 cadherin 1 gene DOID:0050938 breast lobular carcinoma ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast lobular carcinoma PMID:15235021|PMID:17660459|PMID:20373070|PMID:24763289|PMID:25186627|PMID:25741868|PMID:26270727|PMID:26467025|PMID:28492532|PMID:36988593|PMID:8557030|PMID:9744472 11786103 CDH1 cadherin 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19184424 11786103 CDH1 cadherin 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11786103 CDH1 cadherin 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17520682 11786103 CDH1 cadherin 1 gene DOID:0080345 blepharocheilodontic syndrome 1 ISO RGD:737413 D RGD:7240710 20190315 OMIM 11786103 CDH1 cadherin 1 gene DOID:0080345 blepharocheilodontic syndrome 1 ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1 PMID:11305955|PMID:11332401|PMID:11598162|PMID:11747475|PMID:11948460|PMID:12588804|PMID:12800196|PMID:14500541|PMID:15235021|PMID:16061854|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17522512|PMID:17545690|PMID:18442100|PMID:19139070|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21424370|PMID:22470475|PMID:22703879|PMID:22723466|PMID:23197654|PMID:23264079|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:25067988|PMID:25123297|PMID:25186627|PMID:25231023|PMID:25593300|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26072394|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26681312|PMID:26759166|PMID:26845104|PMID:26893459|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27566442|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28301459|PMID:28492532|PMID:28608266|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28993866|PMID:29025585|PMID:29348693|PMID:29470806|PMID:29522266|PMID:29577179|PMID:29641532|PMID:29752822|PMID:30089731|PMID:30287823|PMID:30306255|PMID:30311375|PMID:30374176|PMID:30426508|PMID:30661051|PMID:31159747|PMID:31514334|PMID:31589614|PMID:31742824|PMID:31871109|PMID:32260281|PMID:32269045|PMID:32283892|PMID:32566746|PMID:32658311|PMID:32842532|PMID:33193653|PMID:33471991|PMID:33619332|PMID:33980423|PMID:35089076|PMID:36988593|PMID:8033105|PMID:8075649|PMID:9537325 11786103 CDH1 cadherin 1 gene DOID:0080764 hereditary diffuse gastric cancer ISO RGD:737413 D RGD:7240710 20200826 OMIM 11786103 CDH1 cadherin 1 gene DOID:0080764 hereditary diffuse gastric cancer ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary diffuse gastric cancer PMID:10037790|PMID:10072428|PMID:10094558|PMID:10211998|PMID:10319582|PMID:10357799|PMID:10433926|PMID:10439038|PMID:10477433|PMID:10830618|PMID:10896919|PMID:10973239|PMID:11104024|PMID:11196175|PMID:11241409|PMID:11305955|PMID:11313896|PMID:11332401|PMID:11419427|PMID:11434599|PMID:11443625|PMID:11598162|PMID:11665720|PMID:11705864|PMID:11747475|PMID:11857408|PMID:11948460|PMID:11968083|PMID:11968084|PMID:11996968|PMID:12096341|PMID:12216071|PMID:12414534|PMID:12532420|PMID:12588804|PMID:12647996|PMID:12800196|PMID:12944922|PMID:14033926|PMID:14158754|PMID:14500541|PMID:14562278|PMID:14961571|PMID:15138207|PMID:15173255|PMID:15235021|PMID:15288293|PMID:15322508|PMID:15457549|PMID:15735979|PMID:15750927|PMID:15780560|PMID:15831593|PMID:16061854|PMID:16112667|PMID:16189707|PMID:16199547|PMID:16501831|PMID:16527687|PMID:16571431|PMID:16787116|PMID:16801346|PMID:16924464|PMID:16929514|PMID:16997156|PMID:17126523|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17434710|PMID:17510211|PMID:17522512|PMID:17545690|PMID:17576681|PMID:17634464|PMID:17660459|PMID:17668349|PMID:17955726|PMID:17979184|PMID:18035404|PMID:18046629|PMID:18391748|PMID:18427545|PMID:18442100|PMID:18491227|PMID:18726070|PMID:18772194|PMID:18788075|PMID:19011631|PMID:19017792|PMID:19139070|PMID:19168852|PMID:19223545|PMID:19247957|PMID:19268661|PMID:19268662|PMID:19269290|PMID:19408054|PMID:19725995|PMID:19965908|PMID:20066110|PMID:20233471|PMID:20371349|PMID:20373070|PMID:20471195|PMID:20616022|PMID:20624523|PMID:20719348|PMID:20824432|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21331337|PMID:21424370|PMID:21432908|PMID:21459793|PMID:21520333|PMID:21681551|PMID:21696387|PMID:21777349|PMID:21853084|PMID:21876083|PMID:21989054|PMID:22006311|PMID:22020549|PMID:22098830|PMID:22118538|PMID:22152101|PMID:22225527|PMID:22252131|PMID:22470475|PMID:22543498|PMID:22703879|PMID:22722829|PMID:22722839|PMID:22723466|PMID:22752307|PMID:22799331|PMID:22850631|PMID:22875147|PMID:22901170|PMID:22911296|PMID:22941188|PMID:23073328|PMID:23124477|PMID:2317870|PMID:23197654|PMID:23264079|PMID:23290073|PMID:23431106|PMID:23435907|PMID:23555086|PMID:23575477|PMID:23709761|PMID:23713947|PMID:23752020|PMID:23812922|PMID:24033266|PMID:24037103|PMID:24055113|PMID:24113346|PMID:24204729|PMID:24326041|PMID:24333020|PMID:24366306|PMID:24373500|PMID:24389957|PMID:24424122|PMID:2449335|PMID:24493355|PMID:24556621|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24784840|PMID:24817184|PMID:24969172|PMID:25067988|PMID:25123297|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25275298|PMID:25315765|PMID:25318351|PMID:25344691|PMID:25388006|PMID:25525159|PMID:25593300|PMID:25637381|PMID:25640679|PMID:25648022|PMID:25741868|PMID:25771876|PMID:25819062|PMID:25856671|PMID:25862857|PMID:25882375|PMID:25927356|PMID:25980754|PMID:26010451|PMID:26022348|PMID:26025002|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26270727|PMID:26296696|PMID:26437033|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26486520|PMID:26517685|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26643573|PMID:26674224|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26898890|PMID:26901067|PMID:26911350|PMID:26976419|PMID:27064202|PMID:27121310|PMID:27146957|PMID:27151223|PMID:27153395|PMID:27192129|PMID:27203386|PMID:27227907|PMID:27276934|PMID:27284491|PMID:27392081|PMID:27443514|PMID:27477802|PMID:27498913|PMID:27499925|PMID:27512640|PMID:27566442|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27624909|PMID:27682646|PMID:27720647|PMID:27730413|PMID:27752808|PMID:27760322|PMID:27824116|PMID:27878467|PMID:27880784|PMID:27904775|PMID:27925203|PMID:27930734|PMID:27978560|PMID:27995193|PMID:28061482|PMID:28125075|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195815|PMID:28202063|PMID:28301459|PMID:28301460|PMID:28338653|PMID:28352678|PMID:28460635 11786103 CDH1 cadherin 1 gene DOID:0080764 hereditary diffuse gastric cancer ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary diffuse gastric cancer PMID:28492532|PMID:28503720|PMID:28522256|PMID:28522829|PMID:28577310|PMID:28580595|PMID:28590052|PMID:28608266|PMID:28640387|PMID:28649662|PMID:28688938|PMID:28699883|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28975465|PMID:28993866|PMID:29016666|PMID:29025585|PMID:29050249|PMID:29131691|PMID:29156750|PMID:29212164|PMID:29231860|PMID:29263802|PMID:29295527|PMID:29307626|PMID:29338689|PMID:29348693|PMID:29368341|PMID:29371908|PMID:29416795|PMID:29431110|PMID:29454568|PMID:29470806|PMID:29511593|PMID:29522266|PMID:29577179|PMID:29589180|PMID:29641532|PMID:29752822|PMID:29769627|PMID:29785153|PMID:29798843|PMID:29805042|PMID:29926297|PMID:29928469|PMID:30007404|PMID:30014492|PMID:30089731|PMID:30093976|PMID:30239046|PMID:30256826|PMID:30264118|PMID:30287823|PMID:30306255|PMID:30306390|PMID:30311375|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30466290|PMID:30542785|PMID:30563991|PMID:30613976|PMID:30661051|PMID:30716324|PMID:30745422|PMID:30895400|PMID:30935944|PMID:30982232|PMID:31077828|PMID:31159747|PMID:31206626|PMID:31246251|PMID:31296550|PMID:31422574|PMID:31465090|PMID:31511843|PMID:31514334|PMID:31589614|PMID:31600923|PMID:31638429|PMID:31642931|PMID:31742824|PMID:31780696|PMID:31815095|PMID:31841163|PMID:31843900|PMID:31871109|PMID:31942411|PMID:31986421|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32133419|PMID:32147272|PMID:32175104|PMID:32241597|PMID:32260281|PMID:32269045|PMID:32283892|PMID:32295625|PMID:32318955|PMID:32362280|PMID:32426482|PMID:32427313|PMID:32489267|PMID:32521533|PMID:32529019|PMID:32566746|PMID:32658311|PMID:32701958|PMID:32720237|PMID:32770675|PMID:32842532|PMID:32885271|PMID:32886433|PMID:32906206|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33193653|PMID:33309985|PMID:33322525|PMID:33332384|PMID:33365374|PMID:33471991|PMID:33619332|PMID:33809393|PMID:33929593|PMID:33980423|PMID:34299313|PMID:34359559|PMID:34426522|PMID:34503169|PMID:34537906|PMID:34690920|PMID:35089076|PMID:35172483|PMID:35327954|PMID:35418818|PMID:36436516|PMID:36988593|PMID:8033105|PMID:8075649|PMID:8127895|PMID:8557030|PMID:8598933|PMID:9268661|PMID:9536098|PMID:9537325|PMID:9744472|PMID:9751616 11786103 CDH1 cadherin 1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:21106365|PMID:24326041|PMID:24755471|PMID:25231023|PMID:25741868|PMID:25980754|PMID:26182300|PMID:26467025|PMID:26893459|PMID:27582386|PMID:27621404|PMID:28492532|PMID:29577179|PMID:30311375 11786103 CDH1 cadherin 1 gene DOID:10283 prostate cancer ISO RGD:737413 D RGD:7240710 20180418 OMIM 11786103 CDH1 cadherin 1 gene DOID:10283 prostate cancer ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer | ClinVar Annotator: match by term: Prostate cancer, susceptibility to PMID:11305955|PMID:11332401|PMID:11598162|PMID:11747475|PMID:11948460|PMID:12588804|PMID:12800196|PMID:14500541|PMID:14961571|PMID:15235021|PMID:16061854|PMID:16189707|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17522512|PMID:17545690|PMID:18442100|PMID:19139070|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21424370|PMID:22470475|PMID:22703879|PMID:22723466|PMID:23197654|PMID:23264079|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:25067988|PMID:25123297|PMID:25186627|PMID:25231023|PMID:25593300|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26072394|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26681312|PMID:26759166|PMID:26845104|PMID:26893459|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28608266|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28993866|PMID:29025585|PMID:29348693|PMID:29522266|PMID:29577179|PMID:29641532|PMID:29752822|PMID:30089731|PMID:30287823|PMID:30311375|PMID:30374176|PMID:30426508|PMID:30661051|PMID:31159747|PMID:31514334|PMID:31589614|PMID:31742824|PMID:31871109|PMID:32269045|PMID:32283892|PMID:32566746|PMID:32658311|PMID:32842532|PMID:33193653|PMID:33471991|PMID:33619332|PMID:33980423|PMID:35089076|PMID:36988593|PMID:8075649|PMID:9537325 11786103 CDH1 cadherin 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:737413 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:18056176|REF_RGD_ID:2289487 11786103 CDH1 cadherin 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:737413 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-160C>A (human) PMID:17656222|REF_RGD_ID:2289493 11786103 CDH1 cadherin 1 gene DOID:10534 stomach cancer ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Gastric cancer, familial diffuse, and cleft lip with or without cleft palate | ClinVar Annotator: match by term: Stomach cancer PMID:11948460|PMID:15235021|PMID:15831593|PMID:16061854|PMID:17221870|PMID:17522512|PMID:17545690|PMID:17576681|PMID:18427545|PMID:18442100|PMID:19269290|PMID:19725995|PMID:19965908|PMID:20373070|PMID:20719348|PMID:21424370|PMID:21681551|PMID:22723466|PMID:23264079|PMID:23709761|PMID:25741868|PMID:26025002|PMID:26072394|PMID:26467025|PMID:27682646|PMID:27880784|PMID:27995193|PMID:28492532|PMID:29025585|PMID:29769627|PMID:30287823|PMID:30426508|PMID:30745422|PMID:31514334|PMID:31589614|PMID:32362280|PMID:36988593|PMID:8557030|PMID:9536098|PMID:9744472 11786103 CDH1 cadherin 1 gene DOID:10629 microphthalmia ISO RGD:737413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia PMID:21106365|PMID:24326041|PMID:24755471|PMID:25231023|PMID:25741868|PMID:25980754|PMID:26182300|PMID:26467025|PMID:26893459|PMID:27582386|PMID:27621404|PMID:28492532|PMID:29577179|PMID:30311375 11786103 CDH1 cadherin 1 gene DOID:11054 urinary bladder cancer ISO RGD:69279 D RGD:9068941 20200609 RGD Protein:increased expression:cytoplasm PMID:17167984|REF_RGD_ID:1599549 11786103 CDH1 cadherin 1 gene DOID:11054 urinary bladder cancer ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17520682|PMID:26901067 11786103 CDH1 cadherin 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:737413 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:17760743|REF_RGD_ID:2289491 11786103 CDH1 cadherin 1 gene DOID:1380 endometrial cancer ISO RGD:737413 D RGD:7240710 20190213 OMIM 11786103 CDH1 cadherin 1 gene DOID:1520 colon carcinoma ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:25741868|PMID:28492532|PMID:30287823 11786103 CDH1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:7240710 20180711 OMIM 11786103 CDH1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11196175|PMID:11241409|PMID:11598162|PMID:11857408|PMID:11968083|PMID:12096341|PMID:12588804|PMID:14500541|PMID:15235021|PMID:15288293|PMID:15735979|PMID:16199547|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17224074|PMID:17510211|PMID:17545690|PMID:18772194|PMID:18788075|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23124477|PMID:23197654|PMID:23290073|PMID:23431106|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24817184|PMID:25067988|PMID:25186627|PMID:25231023|PMID:25344691|PMID:25388006|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28352678|PMID:28492532|PMID:28522256|PMID:28767289|PMID:28873162|PMID:29131691|PMID:29263802|PMID:29368341|PMID:29454568|PMID:29522266|PMID:29577179|PMID:29926297|PMID:30014492|PMID:30287823|PMID:30311375|PMID:30661051|PMID:31077828|PMID:31159747|PMID:31246251|PMID:31296550|PMID:31843900|PMID:31986421|PMID:32241597|PMID:32260281|PMID:32566746|PMID:32658311|PMID:33471991|PMID:8075649|PMID:8557030 11786103 CDH1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11196175|PMID:11241409|PMID:11598162|PMID:11857408|PMID:11968083|PMID:12588804|PMID:14500541|PMID:15235021|PMID:15735979|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17224074|PMID:17545690|PMID:18772194|PMID:18788075|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23290073|PMID:23431106|PMID:24033266|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24817184|PMID:25067988|PMID:25186627|PMID:25231023|PMID:25344691|PMID:25388006|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28352678|PMID:28492532|PMID:28522256|PMID:28767289|PMID:28873162|PMID:29131691|PMID:29263802|PMID:29368341|PMID:29454568|PMID:29522266|PMID:29577179|PMID:29926297|PMID:30014492|PMID:30287823|PMID:30311375|PMID:30661051|PMID:31077828|PMID:31159747|PMID:31246251|PMID:31296550|PMID:31843900|PMID:31986421|PMID:32241597|PMID:32260281|PMID:32426482|PMID:32566746|PMID:32658311|PMID:33471991|PMID:8075649|PMID:8557030 11786103 CDH1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11196175|PMID:11241409|PMID:11598162|PMID:11857408|PMID:11968083|PMID:12588804|PMID:14500541|PMID:15235021|PMID:15735979|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17224074|PMID:17545690|PMID:17660459|PMID:18772194|PMID:18788075|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23290073|PMID:23431106|PMID:24033266|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24817184|PMID:25067988|PMID:25186627|PMID:25231023|PMID:25344691|PMID:25388006|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26270727|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28352678|PMID:28492532|PMID:28522256|PMID:28767289|PMID:28873162|PMID:29131691|PMID:29263802|PMID:29368341|PMID:29454568|PMID:29522266|PMID:29577179|PMID:29926297|PMID:30014492|PMID:30287823|PMID:30311375|PMID:30661051|PMID:30745422|PMID:31077828|PMID:31159747|PMID:31246251|PMID:31296550|PMID:31843900|PMID:31986421|PMID:32241597|PMID:32260281|PMID:32426482|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32980694|PMID:33471991|PMID:33809393|PMID:34537906|PMID:8075649|PMID:8557030 11786103 CDH1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11196175|PMID:11241409|PMID:11598162|PMID:11857408|PMID:11968083|PMID:12588804|PMID:14500541|PMID:15235021|PMID:15735979|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17224074|PMID:17545690|PMID:17660459|PMID:18772194|PMID:18788075|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21853084|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23290073|PMID:23431106|PMID:24033266|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24817184|PMID:25067988|PMID:25186627|PMID:25231023|PMID:25344691|PMID:25388006|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26270727|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28352678|PMID:28492532|PMID:28522256|PMID:28767289|PMID:28873162|PMID:29131691|PMID:29263802|PMID:29368341|PMID:29454568|PMID:29522266|PMID:29577179|PMID:29926297|PMID:30014492|PMID:30287823|PMID:30306255|PMID:30311375|PMID:30661051|PMID:30745422|PMID:30982232|PMID:31077828|PMID:31159747|PMID:31246251|PMID:31296550|PMID:31843900|PMID:31986421|PMID:32241597|PMID:32260281|PMID:32283892|PMID:32426482|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33809393|PMID:34537906|PMID:8075649|PMID:8557030 11786103 CDH1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11196175|PMID:11241409|PMID:11598162|PMID:11857408|PMID:11968083|PMID:12588804|PMID:14500541|PMID:15235021|PMID:15735979|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17224074|PMID:17545690|PMID:17660459|PMID:18772194|PMID:18788075|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21853084|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23290073|PMID:23431106|PMID:24033266|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24817184|PMID:25067988|PMID:25186627|PMID:25231023|PMID:25344691|PMID:25388006|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26270727|PMID:26467025|PMID:26486520|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28352678|PMID:28492532|PMID:28522256|PMID:28767289|PMID:28873162|PMID:29131691|PMID:29263802|PMID:29368341|PMID:29454568|PMID:29522266|PMID:29577179|PMID:29926297|PMID:30014492|PMID:30287823|PMID:30306255|PMID:30311375|PMID:30661051|PMID:30745422|PMID:30982232|PMID:31077828|PMID:31159747|PMID:31246251|PMID:31296550|PMID:31638429|PMID:31843900|PMID:31986421|PMID:32241597|PMID:32260281|PMID:32283892|PMID:32426482|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33809393|PMID:34537906|PMID:8075649|PMID:8557030 11786103 CDH1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11196175|PMID:11241409|PMID:11598162|PMID:11857408|PMID:11968083|PMID:12096341|PMID:12588804|PMID:14500541|PMID:15235021|PMID:15288293|PMID:15735979|PMID:16199547|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17224074|PMID:17510211|PMID:17545690|PMID:17660459|PMID:18772194|PMID:18788075|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21853084|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23124477|PMID:23197654|PMID:23290073|PMID:23431106|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24817184|PMID:25067988|PMID:25186627|PMID:25231023|PMID:25344691|PMID:25388006|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26270727|PMID:26467025|PMID:26486520|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28352678|PMID:28492532|PMID:28522256|PMID:28767289|PMID:28873162|PMID:29131691|PMID:29263802|PMID:29368341|PMID:29454568|PMID:29522266|PMID:29577179|PMID:29926297|PMID:30014492|PMID:30287823|PMID:30306255|PMID:30311375|PMID:30661051|PMID:30745422|PMID:30982232|PMID:31077828|PMID:31159747|PMID:31246251|PMID:31296550|PMID:31638429|PMID:31843900|PMID:31986421|PMID:32241597|PMID:32260281|PMID:32283892|PMID:32426482|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33809393|PMID:34537906|PMID:8075649|PMID:8557030|PMID:9744472 11786103 CDH1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11196175|PMID:11241409|PMID:11598162|PMID:11857408|PMID:11968083|PMID:12096341|PMID:12588804|PMID:14500541|PMID:15235021|PMID:15288293|PMID:15735979|PMID:16199547|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17224074|PMID:17510211|PMID:17545690|PMID:17660459|PMID:18772194|PMID:18788075|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21853084|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23124477|PMID:23197654|PMID:23290073|PMID:23431106|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24817184|PMID:25067988|PMID:25186627|PMID:25231023|PMID:25344691|PMID:25388006|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26270727|PMID:26467025|PMID:26486520|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28352678|PMID:28492532|PMID:28522256|PMID:28767289|PMID:28873162|PMID:29131691|PMID:29263802|PMID:29368341|PMID:29454568|PMID:29522266|PMID:29577179|PMID:29926297|PMID:30014492|PMID:30287823|PMID:30306255|PMID:30311375|PMID:30661051|PMID:30745422|PMID:30982232|PMID:31077828|PMID:31159747|PMID:31246251|PMID:31296550|PMID:31638429|PMID:31843900|PMID:31986421|PMID:32241597|PMID:32260281|PMID:32283892|PMID:32426482|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33809393|PMID:34537906|PMID:36988593|PMID:8075649|PMID:8557030|PMID:9744472 11786103 CDH1 cadherin 1 gene DOID:1749 squamous cell carcinoma ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17520682 11786103 CDH1 cadherin 1 gene DOID:1793 pancreatic cancer ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18223216 11786103 CDH1 cadherin 1 gene DOID:219 colon cancer ISO RGD:737413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant tumor of colon PMID:15235021|PMID:16924464|PMID:17545690|PMID:19268661|PMID:20233471|PMID:22470475|PMID:22703879|PMID:24204729|PMID:24373500|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26072394|PMID:26123647|PMID:26182300|PMID:26467025|PMID:26486520|PMID:27153395|PMID:27582386|PMID:28492532|PMID:28767289|PMID:29131691|PMID:29926297|PMID:30311375|PMID:32906206|PMID:33471991 11786103 CDH1 cadherin 1 gene DOID:2394 ovarian cancer ISO RGD:737413 D RGD:7240710 20190213 OMIM 11786103 CDH1 cadherin 1 gene DOID:2394 ovarian cancer ISO RGD:737413 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:17126523|PMID:17434710|PMID:19268661|PMID:23435907|PMID:24493355|PMID:25741868|PMID:25927356|PMID:26467025|PMID:27276934|PMID:27582386|PMID:28135048|PMID:28492532|PMID:28580595|PMID:28649662|PMID:28767289|PMID:28873162|PMID:30287823|PMID:31642931|PMID:31815095|PMID:32091409|PMID:32521533 11786103 CDH1 cadherin 1 gene DOID:2841 asthma ISO RGD:737413 D RGD:9068941 20200609 RGD PMID:21540309|REF_RGD_ID:5132878 11786103 CDH1 cadherin 1 gene DOID:2871 endometrial carcinoma ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:11305955|PMID:11332401|PMID:11598162|PMID:11747475|PMID:11948460|PMID:12588804|PMID:12800196|PMID:14500541|PMID:15235021|PMID:16061854|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17522512|PMID:17545690|PMID:18442100|PMID:19139070|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21424370|PMID:22470475|PMID:22703879|PMID:22723466|PMID:23197654|PMID:23264079|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:25067988|PMID:25123297|PMID:25186627|PMID:25231023|PMID:25593300|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26072394|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26681312|PMID:26759166|PMID:26845104|PMID:26893459|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28352678|PMID:28492532|PMID:28608266|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28993866|PMID:29025585|PMID:29348693|PMID:29522266|PMID:29577179|PMID:29641532|PMID:29752822|PMID:30089731|PMID:30287823|PMID:30311375|PMID:30374176|PMID:30426508|PMID:30661051|PMID:31159747|PMID:31514334|PMID:31589614|PMID:31742824|PMID:31871109|PMID:32269045|PMID:32283892|PMID:32566746|PMID:32658311|PMID:32842532|PMID:33193653|PMID:33471991|PMID:33619332|PMID:33980423|PMID:35089076|PMID:36988593|PMID:8075649|PMID:9537325 11786103 CDH1 cadherin 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17660459|PMID:8557030 11786103 CDH1 cadherin 1 gene DOID:305 carcinoma ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942|PMID:17520682|PMID:8075649 11786103 CDH1 cadherin 1 gene DOID:3457 invasive lobular carcinoma ISO RGD:737413 D RGD:9068941 20200609 RGD PMID:18213475|REF_RGD_ID:2289450 11786103 CDH1 cadherin 1 gene DOID:3457 invasive lobular carcinoma ISO RGD:737413 D RGD:9068941 20200609 RGD DNA:nonsense mutation: :517insA (human) PMID:17660459|REF_RGD_ID:2289492 11786103 CDH1 cadherin 1 gene DOID:3459 breast carcinoma ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:25741868|PMID:28492532|PMID:29805042 11786103 CDH1 cadherin 1 gene DOID:3571 liver cancer ISO RGD:737414 D RGD:9068941 20220623 RGD mRNA:increased expression:liver (mouse) PMID:25319454|REF_RGD_ID:152995431 11786103 CDH1 cadherin 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:10896919|PMID:11968083|PMID:12588804|PMID:12944922|PMID:14500541|PMID:14562278|PMID:16112667|PMID:16527687|PMID:16929514|PMID:17510211|PMID:19247957|PMID:19268661|PMID:19269290|PMID:21989054|PMID:22850631|PMID:24690483|PMID:24784840|PMID:25180051|PMID:25187893|PMID:25388006|PMID:25741868|PMID:25856671|PMID:26072394|PMID:26467025|PMID:26822949|PMID:27121310|PMID:27582386|PMID:28492532|PMID:28503720|PMID:28580595|PMID:29752822|PMID:30287823 11786103 CDH1 cadherin 1 gene DOID:3717 gastric adenocarcinoma severity ISO RGD:737413 D RGD:9068941 20210409 RGD mRNA:decreased expression:mucosa of stomach (human) PMID:24293408|REF_RGD_ID:125097521 11786103 CDH1 cadherin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:69279 D RGD:9068941 20200609 RGD PMID:20495078|REF_RGD_ID:5132892 11786103 CDH1 cadherin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:737413 D RGD:9068941 20200609 RGD PMID:20495078|REF_RGD_ID:5132892 11786103 CDH1 cadherin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:737414 D RGD:9068941 20200609 RGD PMID:16924102|REF_RGD_ID:5132890 11786103 CDH1 cadherin 1 gene DOID:3910 lung adenocarcinoma ISO RGD:69279 D RGD:9068941 20200609 RGD DNA:increased methylation PMID:16329148|REF_RGD_ID:1599556 11786103 CDH1 cadherin 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:737413 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:25520863|REF_RGD_ID:13792554 11786103 CDH1 cadherin 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:737413 D RGD:9068941 20200609 RGD protein:decreased expression, altered localization:kidney, nucleus PMID:17906660|REF_RGD_ID:2289489 11786103 CDH1 cadherin 1 gene DOID:4450 renal cell carcinoma onset ISO RGD:737413 D RGD:9068941 20200609 RGD DNA:LOH: : PMID:15203750|REF_RGD_ID:7242059 11786103 CDH1 cadherin 1 gene DOID:4531 mucoepidermoid carcinoma ISO RGD:737413 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:15999364|REF_RGD_ID:9588574 11786103 CDH1 cadherin 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:25741868|PMID:28492532|PMID:28590052|PMID:30287823|PMID:32885271|PMID:33309985 11786103 CDH1 cadherin 1 gene DOID:5082 liver cirrhosis ISO RGD:737413 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32659284 11786103 CDH1 cadherin 1 gene DOID:5199 ureteral obstruction ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31697999 11786103 CDH1 cadherin 1 gene DOID:557 kidney disease ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31697999 11786103 CDH1 cadherin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10896919|PMID:11305955|PMID:11598162|PMID:11948460|PMID:11968083|PMID:12216071|PMID:12588804|PMID:12800196|PMID:12944922|PMID:14500541|PMID:14562278|PMID:15235021|PMID:15750927|PMID:16112667|PMID:16527687|PMID:16924464|PMID:16929514|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17510211|PMID:17545690|PMID:17668349|PMID:18788075|PMID:19017792|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20921021|PMID:21106365|PMID:21989054|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23431106|PMID:24033266|PMID:24055113|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24784840|PMID:24817184|PMID:25067988|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25388006|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25856671|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26976419|PMID:27121310|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28580595|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29050249|PMID:29131691|PMID:29212164|PMID:29348693|PMID:29470806|PMID:29577179|PMID:29752822|PMID:29926297|PMID:30287823|PMID:30311375|PMID:31600923|PMID:31843900|PMID:31871109|PMID:32241597|PMID:32566746|PMID:33471991|PMID:8075649|PMID:9537325|PMID:9744472 11786103 CDH1 cadherin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10896919|PMID:11305955|PMID:11598162|PMID:11948460|PMID:11968083|PMID:12216071|PMID:12588804|PMID:12800196|PMID:12944922|PMID:14500541|PMID:14562278|PMID:15235021|PMID:15750927|PMID:16112667|PMID:16527687|PMID:16924464|PMID:16929514|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17510211|PMID:17545690|PMID:17668349|PMID:18788075|PMID:19017792|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20921021|PMID:21106365|PMID:21989054|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23431106|PMID:24033266|PMID:24055113|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24784840|PMID:24817184|PMID:25067988|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25388006|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25856671|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26486520|PMID:26534844|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26976419|PMID:27121310|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29050249|PMID:29131691|PMID:29212164|PMID:29348693|PMID:29470806|PMID:29577179|PMID:29752822|PMID:29926297|PMID:30287823|PMID:30311375|PMID:30661051|PMID:31600923|PMID:31638429|PMID:31843900|PMID:31871109|PMID:32241597|PMID:32566746|PMID:32906206|PMID:33471991|PMID:8075649|PMID:9537325 11786103 CDH1 cadherin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10896919|PMID:11305955|PMID:11598162|PMID:11948460|PMID:11968083|PMID:12216071|PMID:12588804|PMID:12800196|PMID:12944922|PMID:14500541|PMID:14562278|PMID:15235021|PMID:15750927|PMID:16112667|PMID:16527687|PMID:16924464|PMID:16929514|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17510211|PMID:17545690|PMID:17668349|PMID:18788075|PMID:19017792|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20921021|PMID:21106365|PMID:21989054|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23431106|PMID:24033266|PMID:24055113|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24784840|PMID:24817184|PMID:25067988|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25388006|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25856671|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26486520|PMID:26534844|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26976419|PMID:27121310|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29050249|PMID:29131691|PMID:29212164|PMID:29348693|PMID:29470806|PMID:29577179|PMID:29752822|PMID:29926297|PMID:30287823|PMID:30311375|PMID:30661051|PMID:31600923|PMID:31638429|PMID:31843900|PMID:31871109|PMID:32241597|PMID:32566746|PMID:32906206|PMID:33471991|PMID:33929593|PMID:8075649|PMID:9537325 11786103 CDH1 cadherin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10896919|PMID:11305955|PMID:11598162|PMID:11948460|PMID:11968083|PMID:12216071|PMID:12588804|PMID:12800196|PMID:12944922|PMID:14500541|PMID:14562278|PMID:15173255|PMID:15235021|PMID:15750927|PMID:16112667|PMID:16527687|PMID:16801346|PMID:16924464|PMID:16929514|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17510211|PMID:17545690|PMID:17668349|PMID:18788075|PMID:19017792|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20921021|PMID:21106365|PMID:21989054|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23431106|PMID:23435907|PMID:24033266|PMID:24055113|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24784840|PMID:24817184|PMID:25067988|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25388006|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25856671|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26486520|PMID:26534844|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26976419|PMID:27121310|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29050249|PMID:29131691|PMID:29212164|PMID:29348693|PMID:29470806|PMID:29577179|PMID:29752822|PMID:29926297|PMID:30287823|PMID:30311375|PMID:30661051|PMID:31600923|PMID:31638429|PMID:31843900|PMID:31871109|PMID:32241597|PMID:32566746|PMID:32906206|PMID:33471991|PMID:33929593|PMID:8075649|PMID:9537325 11786103 CDH1 cadherin 1 gene DOID:630 genetic disease ISO RGD:737413 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32260281 11786103 CDH1 cadherin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:69279 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:17295234|REF_RGD_ID:2289638 11786103 CDH1 cadherin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:737413 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:30697077|REF_RGD_ID:14402045 11786103 CDH1 cadherin 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:737413 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:30697077|REF_RGD_ID:14402045 11786103 CDH1 cadherin 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:737413 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:18837082|REF_RGD_ID:14402047 11786103 CDH1 cadherin 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:737414 D RGD:9068941 20200609 RGD PMID:24840851|REF_RGD_ID:14402046 11786103 CDH1 cadherin 1 gene DOID:687 hepatoblastoma ISO RGD:737413 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:16465411|REF_RGD_ID:14402053 11786103 CDH1 cadherin 1 gene DOID:8577 ulcerative colitis ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19915572 11786103 CDH1 cadherin 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581815 11786103 CDH1 cadherin 1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:737413 D RGD:9068941 20200609 RGD DNA:hypermethylation:uterine cervix PMID:17894941|REF_RGD_ID:2289490 11786103 CDH1 cadherin 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:737413 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:17649807|REF_RGD_ID:2289498 11786103 CDH1 cadherin 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:737413 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms PMID:18097581|REF_RGD_ID:2296046 11786103 CDH1 cadherin 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastric neoplasm | ClinVar Annotator: match by term: Neoplasm of stomach PMID:12216071|PMID:12944922|PMID:14500541|PMID:15235021|PMID:16112667|PMID:16924464|PMID:17261850|PMID:17668349|PMID:19017792|PMID:19247957|PMID:19268661|PMID:19269290|PMID:20921021|PMID:21989054|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23425907|PMID:23435907|PMID:24055113|PMID:24204729|PMID:24373500|PMID:24728327|PMID:25388006|PMID:25637381|PMID:25741868|PMID:25927356|PMID:25980754|PMID:26072394|PMID:26182300|PMID:26467025|PMID:26692440|PMID:26759166|PMID:27153395|PMID:27582386|PMID:28492532|PMID:28503720|PMID:28767289|PMID:28975465|PMID:29050249|PMID:29131691|PMID:29752822|PMID:29926297|PMID:30287823|PMID:30311375|PMID:32566746|PMID:33471991 11786103 CDH1 cadherin 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:737413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neoplasm of stomach PMID:12216071|PMID:12944922|PMID:14500541|PMID:15235021|PMID:16112667|PMID:16924464|PMID:17261850|PMID:17545690|PMID:17668349|PMID:19017792|PMID:19247957|PMID:19268661|PMID:19269290|PMID:20233471|PMID:20921021|PMID:21989054|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23435907|PMID:24055113|PMID:24204729|PMID:24373500|PMID:24728327|PMID:25388006|PMID:25637381|PMID:25741868|PMID:25927356|PMID:25980754|PMID:26072394|PMID:26123647|PMID:26182300|PMID:26467025|PMID:26486520|PMID:26692440|PMID:26759166|PMID:27153395|PMID:27582386|PMID:28492532|PMID:28503720|PMID:28767289|PMID:28975465|PMID:29050249|PMID:29131691|PMID:29752822|PMID:29926297|PMID:30287823|PMID:30311375|PMID:31642931|PMID:32521533|PMID:32566746|PMID:32906206|PMID:33471991 11786103 CDH1 cadherin 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11786103 CDH1 cadherin 1 gene DOID:9000784 Fibrosis ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31697999 11786103 CDH1 cadherin 1 gene DOID:9000918 Disease Progression ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19839049 11786103 CDH1 cadherin 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17520682|PMID:22580338 11786103 CDH1 cadherin 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737413 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:18008331|REF_RGD_ID:2289488 11786103 CDH1 cadherin 1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:737413 D RGD:9068941 20220616 RGD associated with stomach cancer; human cells in mouse model PMID:27431311|REF_RGD_ID:152995400 11786103 CDH1 cadherin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69279 D RGD:9068941 20220520 RGD associated with Schistosomiasis Japonica; mRNA:decreased expression:liver (rat) PMID:29323718|REF_RGD_ID:38599216 11786103 CDH1 cadherin 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20118494|PMID:25319454 11786103 CDH1 cadherin 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27224422 11786103 CDH1 cadherin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16813949|PMID:22581815|PMID:29295717|PMID:29610475 11786103 CDH1 cadherin 1 gene DOID:9002467 Mycoplasma Infections ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20179380 11786103 CDH1 cadherin 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:11747475|PMID:15235021|PMID:19139070|PMID:20373070|PMID:22470475|PMID:23709761|PMID:24728327|PMID:25067988|PMID:25123297|PMID:25186627|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26467025|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28166811|PMID:28492532|PMID:28608266|PMID:28640387|PMID:28767289|PMID:28961279|PMID:28993866|PMID:29522266|PMID:29641532|PMID:29752822|PMID:30089731|PMID:30287823|PMID:30311375|PMID:30374176|PMID:30426508|PMID:31159747|PMID:31871109|PMID:32566746|PMID:8075649 11786103 CDH1 cadherin 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:11305955|PMID:11332401|PMID:11598162|PMID:11747475|PMID:11948460|PMID:12588804|PMID:12800196|PMID:14500541|PMID:15235021|PMID:16061854|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17522512|PMID:17545690|PMID:18442100|PMID:19139070|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21424370|PMID:22470475|PMID:22703879|PMID:22723466|PMID:23197654|PMID:23264079|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:25067988|PMID:25123297|PMID:25186627|PMID:25231023|PMID:25593300|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26072394|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26681312|PMID:26759166|PMID:26845104|PMID:26893459|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28608266|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28993866|PMID:29025585|PMID:29348693|PMID:29522266|PMID:29577179|PMID:29641532|PMID:29752822|PMID:30089731|PMID:30287823|PMID:30311375|PMID:30374176|PMID:30426508|PMID:30661051|PMID:31159747|PMID:31514334|PMID:31589614|PMID:31742824|PMID:31871109|PMID:32269045|PMID:32283892|PMID:32566746|PMID:32658311|PMID:32842532|PMID:33193653|PMID:33471991|PMID:33619332|PMID:33980423|PMID:35089076|PMID:8075649|PMID:9537325 11786103 CDH1 cadherin 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:11305955|PMID:11332401|PMID:11598162|PMID:11747475|PMID:11948460|PMID:12588804|PMID:12800196|PMID:14500541|PMID:15235021|PMID:16061854|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17522512|PMID:17545690|PMID:18442100|PMID:19139070|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21424370|PMID:22470475|PMID:22703879|PMID:22723466|PMID:23197654|PMID:23264079|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:25067988|PMID:25123297|PMID:25186627|PMID:25231023|PMID:25593300|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26072394|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26681312|PMID:26759166|PMID:26845104|PMID:26893459|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28608266|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28993866|PMID:29025585|PMID:29348693|PMID:29522266|PMID:29577179|PMID:29641532|PMID:29752822|PMID:30089731|PMID:30287823|PMID:30311375|PMID:30374176|PMID:30426508|PMID:30661051|PMID:31159747|PMID:31514334|PMID:31589614|PMID:31742824|PMID:31871109|PMID:32269045|PMID:32283892|PMID:32566746|PMID:32658311|PMID:32842532|PMID:33193653|PMID:33471991|PMID:33619332|PMID:33980423|PMID:35089076|PMID:36988593|PMID:8075649|PMID:9537325 11786103 CDH1 cadherin 1 gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:737413 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:*54C>T (human) PMID:18035404|REF_RGD_ID:2289494 11786103 CDH1 cadherin 1 gene DOID:9002955 Nerve Degeneration ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12387456 11786103 CDH1 cadherin 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17520682 11786103 CDH1 cadherin 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737413 D RGD:9068941 20200609 RGD DNA:hypermethylation:uterine cervix PMID:17894941|REF_RGD_ID:2289490 11786103 CDH1 cadherin 1 gene DOID:9003566 Mesothelioma ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15639718 11786103 CDH1 cadherin 1 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:737413 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium PMID:18295959|REF_RGD_ID:2296045 11786103 CDH1 cadherin 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19839049|PMID:22580338 11786103 CDH1 cadherin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11786103 CDH1 cadherin 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14961571|PMID:16189707 11786103 CDH1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10037790|PMID:10072428|PMID:10094558|PMID:10211998|PMID:10319582|PMID:10357799|PMID:10477433|PMID:10896919|PMID:10973239|PMID:11196175|PMID:11241409|PMID:11305955|PMID:11313896|PMID:11419427|PMID:11598162|PMID:11665720|PMID:11705864|PMID:11747475|PMID:11857408|PMID:11948460|PMID:11968083|PMID:11968084|PMID:12096341|PMID:12216071|PMID:12414534|PMID:12532420|PMID:12588804|PMID:12647996|PMID:12800196|PMID:12944922|PMID:14158754|PMID:14500541|PMID:14562278|PMID:15138207|PMID:15173255|PMID:15235021|PMID:15288293|PMID:15313375|PMID:15322508|PMID:15457549|PMID:15735979|PMID:15750927|PMID:15831593|PMID:16061854|PMID:16112667|PMID:16199547|PMID:16501831|PMID:16527687|PMID:16787116|PMID:16801346|PMID:16924464|PMID:16929514|PMID:16997156|PMID:17126523|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17434710|PMID:17510211|PMID:17522512|PMID:17545690|PMID:17576681|PMID:17634464|PMID:17660459|PMID:17668349|PMID:18046629|PMID:18391748|PMID:18427545|PMID:18442100|PMID:18726070|PMID:18772194|PMID:18788075|PMID:19011631|PMID:19017792|PMID:19139070|PMID:19223545|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19408054|PMID:19725995|PMID:19965908|PMID:20066110|PMID:20233471|PMID:20371349|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21331337|PMID:21424370|PMID:21681551|PMID:21696387|PMID:21777349|PMID:21989054|PMID:22006311|PMID:22020549|PMID:22098830|PMID:22152101|PMID:22225527|PMID:22252131|PMID:22470475|PMID:22543498|PMID:22703879|PMID:22722829|PMID:22722839|PMID:22723466|PMID:22752307|PMID:22788692|PMID:22850631|PMID:22911296|PMID:22941188|PMID:23073328|PMID:23124477|PMID:2317870|PMID:23197654|PMID:23264079|PMID:23290073|PMID:23425907|PMID:23431106|PMID:23435907|PMID:23555086|PMID:23575477|PMID:23709761|PMID:23752020|PMID:24033266|PMID:24055113|PMID:24204729|PMID:24326041|PMID:24366306|PMID:24373500|PMID:24389957|PMID:24424122|PMID:2449335|PMID:24493355|PMID:24556621|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24784840|PMID:24817184|PMID:24969172|PMID:25067988|PMID:25123297|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25275298|PMID:25315765|PMID:25318351|PMID:25344691|PMID:25388006|PMID:25525159|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25771876|PMID:25819062|PMID:25856671|PMID:25862857|PMID:25882375|PMID:25927356|PMID:25980754|PMID:26010451|PMID:26022348|PMID:26025002|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26270727|PMID:26296696|PMID:26467025|PMID:26483394|PMID:26486520|PMID:26517685|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26674224|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27064202|PMID:27121310|PMID:27146957|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27276934|PMID:27284491|PMID:27392081|PMID:27443514|PMID:27477802|PMID:27498913|PMID:27499925|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27682646|PMID:27720647|PMID:27730413|PMID:27752808|PMID:27760322|PMID:27824116|PMID:27878467|PMID:27880784|PMID:27904775|PMID:27925203|PMID:27930734|PMID:27978560|PMID:27995193|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195815|PMID:28202063|PMID:28301459|PMID:28301460|PMID:28338653|PMID:28352678|PMID:28460635|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28522829|PMID:28580595|PMID:28608266|PMID:28640387|PMID:28649662|PMID:28688938|PMID:28699883|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28975465|PMID:28993866|PMID:29016666|PMID:29025585|PMID:29050249|PMID:29131691|PMID:29156750|PMID:29212164|PMID:29263802|PMID:29295527|PMID:29338689|PMID:29348693|PMID:29368341|PMID:29371908|PMID:29416795|PMID:29431110|PMID:29454568|PMID:29470806|PMID:29522266|PMID:29577179|PMID:29589180|PMID:29641532|PMID:29752822|PMID:29769627|PMID:29785153|PMID:29798843|PMID:29805042|PMID:29926297|PMID:30014492|PMID:30089731|PMID:30093976|PMID:30264118 11786103 CDH1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30287823|PMID:30306255|PMID:30306390|PMID:30311375|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30542785|PMID:30563991|PMID:30661051|PMID:30716324|PMID:30745422|PMID:30895400|PMID:30935944|PMID:31077828|PMID:31159747|PMID:31206626|PMID:31246251|PMID:31296550|PMID:31422574|PMID:31465090|PMID:31514334|PMID:31600923|PMID:31642931|PMID:31780696|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31986421|PMID:32068069|PMID:32107087|PMID:32133419|PMID:32147272|PMID:32241597|PMID:32260281|PMID:32269045|PMID:32318955|PMID:32362280|PMID:32566746|PMID:32658311|PMID:32770675|PMID:32957588|PMID:32980694|PMID:33471991|PMID:34299313|PMID:8075649|PMID:8127895|PMID:9268661|PMID:9536098|PMID:9537325|PMID:9744472|PMID:9751616 11786103 CDH1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10072428|PMID:10094558|PMID:10211998|PMID:10319582|PMID:10357799|PMID:10477433|PMID:10896919|PMID:10973239|PMID:11196175|PMID:11241409|PMID:11305955|PMID:11313896|PMID:11332401|PMID:11419427|PMID:11598162|PMID:11665720|PMID:11705864|PMID:11747475|PMID:11857408|PMID:11948460|PMID:11968083|PMID:11968084|PMID:12216071|PMID:12414534|PMID:12532420|PMID:12588804|PMID:12647996|PMID:12800196|PMID:12944922|PMID:14158754|PMID:14500541|PMID:14562278|PMID:14630673|PMID:15138207|PMID:15173255|PMID:15235021|PMID:15313375|PMID:15322508|PMID:15457549|PMID:15735979|PMID:15750927|PMID:15831593|PMID:16061854|PMID:16112667|PMID:16199547|PMID:16501831|PMID:16527687|PMID:16787116|PMID:16801346|PMID:16924464|PMID:16929514|PMID:16997156|PMID:17126523|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17434710|PMID:17510211|PMID:17522512|PMID:17545690|PMID:17576681|PMID:17634464|PMID:17660459|PMID:17668349|PMID:18046629|PMID:18391748|PMID:18427545|PMID:18442100|PMID:18772194|PMID:18788075|PMID:19011631|PMID:19017792|PMID:19139070|PMID:19223545|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19725995|PMID:19965908|PMID:20233471|PMID:20371349|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21424370|PMID:21681551|PMID:21696387|PMID:21777349|PMID:21989054|PMID:22006311|PMID:22020549|PMID:22098830|PMID:22152101|PMID:22225527|PMID:22252131|PMID:22470475|PMID:22543498|PMID:22703879|PMID:22722829|PMID:22722839|PMID:22723466|PMID:22752307|PMID:22788692|PMID:22850631|PMID:22911296|PMID:22941188|PMID:23073328|PMID:23197654|PMID:23264079|PMID:23290073|PMID:23431106|PMID:23435907|PMID:23555086|PMID:23575477|PMID:23709761|PMID:23752020|PMID:24033266|PMID:24055113|PMID:24204729|PMID:24326041|PMID:24366306|PMID:24373500|PMID:24389957|PMID:24424122|PMID:2449335|PMID:24493355|PMID:24556621|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24784840|PMID:24817184|PMID:24969172|PMID:25067988|PMID:25123297|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25275298|PMID:25315765|PMID:25318351|PMID:25344691|PMID:25388006|PMID:25525159|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25771876|PMID:25819062|PMID:25856671|PMID:25862857|PMID:25882375|PMID:25927356|PMID:25980754|PMID:26010451|PMID:26022348|PMID:26025002|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26270727|PMID:26296696|PMID:26467025|PMID:26483394|PMID:26486520|PMID:26517685|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26674224|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27064202|PMID:27121310|PMID:27146957|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27276934|PMID:27284491|PMID:27392081|PMID:27443514|PMID:27477802|PMID:27498913|PMID:27499925|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27682646|PMID:27720647|PMID:27752808|PMID:27760322|PMID:27824116|PMID:27878467|PMID:27880784|PMID:27904775|PMID:27925203|PMID:27930734|PMID:27978560|PMID:27995193|PMID:28125075|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195815|PMID:28202063|PMID:28301459|PMID:28301460|PMID:28338653|PMID:28352678|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28522829|PMID:28580595|PMID:28608266|PMID:28640387|PMID:28649662|PMID:28688938|PMID:28699883|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28975465|PMID:28993866|PMID:29016666|PMID:29025585|PMID:29050249|PMID:29131691|PMID:29156750|PMID:29212164|PMID:29263802|PMID:29295527|PMID:29338689|PMID:29348693|PMID:29368341|PMID:29371908|PMID:29416795|PMID:29431110|PMID:29454568|PMID:29470806|PMID:29522266|PMID:29577179|PMID:29589180|PMID:29641532|PMID:29752822|PMID:29769627|PMID:29785153|PMID:29798843|PMID:29805042|PMID:29926297|PMID:29928469|PMID:30014492|PMID:30089731|PMID:30093976|PMID:30264118|PMID:30287823|PMID:30306255|PMID:30306390|PMID:30311375|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30542785 11786103 CDH1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30563991|PMID:30661051|PMID:30716324|PMID:30745422|PMID:30895400|PMID:30935944|PMID:31077828|PMID:31159747|PMID:31206626|PMID:31246251|PMID:31296550|PMID:31422574|PMID:31465090|PMID:31511843|PMID:31514334|PMID:31600923|PMID:31642931|PMID:31780696|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31986421|PMID:32068069|PMID:32107087|PMID:32133419|PMID:32147272|PMID:32175104|PMID:32241597|PMID:32260281|PMID:32269045|PMID:32283892|PMID:32318955|PMID:32362280|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32770675|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33193653|PMID:33322525|PMID:33365374|PMID:33471991|PMID:34299313|PMID:34359559|PMID:34537906|PMID:8075649|PMID:8127895|PMID:9268661|PMID:9536098|PMID:9537325|PMID:9744472|PMID:9751616 11786103 CDH1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10072428|PMID:10094558|PMID:10211998|PMID:10319582|PMID:10357799|PMID:10477433|PMID:10896919|PMID:10973239|PMID:11196175|PMID:11241409|PMID:11305955|PMID:11313896|PMID:11332401|PMID:11419427|PMID:11598162|PMID:11665720|PMID:11705864|PMID:11747475|PMID:11857408|PMID:11948460|PMID:11968083|PMID:11968084|PMID:12216071|PMID:12414534|PMID:12532420|PMID:12588804|PMID:12647996|PMID:12800196|PMID:12944922|PMID:14158754|PMID:14500541|PMID:14562278|PMID:14630673|PMID:15138207|PMID:15173255|PMID:15235021|PMID:15313375|PMID:15322508|PMID:15457549|PMID:15735979|PMID:15750927|PMID:15831593|PMID:16061854|PMID:16112667|PMID:16199547|PMID:16501831|PMID:16527687|PMID:16787116|PMID:16801346|PMID:16924464|PMID:16929514|PMID:16997156|PMID:17126523|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17434710|PMID:17510211|PMID:17522512|PMID:17545690|PMID:17576681|PMID:17634464|PMID:17660459|PMID:17668349|PMID:18046629|PMID:18391748|PMID:18427545|PMID:18442100|PMID:18772194|PMID:18788075|PMID:19011631|PMID:19017792|PMID:19139070|PMID:19223545|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19725995|PMID:19965908|PMID:20233471|PMID:20371349|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21424370|PMID:21681551|PMID:21696387|PMID:21777349|PMID:21989054|PMID:22006311|PMID:22020549|PMID:22098830|PMID:22152101|PMID:22225527|PMID:22252131|PMID:22470475|PMID:22543498|PMID:22703879|PMID:22722829|PMID:22722839|PMID:22723466|PMID:22752307|PMID:22788692|PMID:22850631|PMID:22911296|PMID:22941188|PMID:23073328|PMID:23197654|PMID:23264079|PMID:23290073|PMID:23431106|PMID:23435907|PMID:23555086|PMID:23575477|PMID:23709761|PMID:23752020|PMID:24033266|PMID:24055113|PMID:24204729|PMID:24326041|PMID:24366306|PMID:24373500|PMID:24389957|PMID:24424122|PMID:2449335|PMID:24493355|PMID:24556621|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24784840|PMID:24817184|PMID:24969172|PMID:25067988|PMID:25123297|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25275298|PMID:25315765|PMID:25318351|PMID:25344691|PMID:25388006|PMID:25525159|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25771876|PMID:25819062|PMID:25856671|PMID:25862857|PMID:25882375|PMID:25927356|PMID:25980754|PMID:26010451|PMID:26022348|PMID:26025002|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26270727|PMID:26296696|PMID:26467025|PMID:26483394|PMID:26486520|PMID:26517685|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26674224|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27064202|PMID:27121310|PMID:27146957|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27276934|PMID:27284491|PMID:27392081|PMID:27443514|PMID:27477802|PMID:27498913|PMID:27499925|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27682646|PMID:27720647|PMID:27752808|PMID:27760322|PMID:27824116|PMID:27878467|PMID:27880784|PMID:27904775|PMID:27925203|PMID:27930734|PMID:27978560|PMID:27995193|PMID:28125075|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195815|PMID:28202063|PMID:28301459|PMID:28301460|PMID:28338653|PMID:28352678|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28522829|PMID:28580595|PMID:28608266|PMID:28640387|PMID:28649662|PMID:28688938|PMID:28699883|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28975465|PMID:28993866|PMID:29016666|PMID:29025585|PMID:29050249|PMID:29131691|PMID:29156750|PMID:29212164|PMID:29263802|PMID:29295527|PMID:29338689|PMID:29348693|PMID:29368341|PMID:29371908|PMID:29416795|PMID:29431110|PMID:29454568|PMID:29470806|PMID:29522266|PMID:29577179|PMID:29589180|PMID:29641532|PMID:29752822|PMID:29769627|PMID:29785153|PMID:29798843|PMID:29805042|PMID:29926297|PMID:29928469|PMID:30014492|PMID:30089731|PMID:30093976|PMID:30239046|PMID:30264118|PMID:30287823|PMID:30306255|PMID:30306390|PMID:30311375|PMID:30333958|PMID:30374176|PMID:30426508 11786103 CDH1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30542785|PMID:30563991|PMID:30661051|PMID:30716324|PMID:30745422|PMID:30895400|PMID:30935944|PMID:31077828|PMID:31159747|PMID:31206626|PMID:31246251|PMID:31296550|PMID:31422574|PMID:31465090|PMID:31511843|PMID:31514334|PMID:31600923|PMID:31642931|PMID:31780696|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31986421|PMID:32068069|PMID:32107087|PMID:32133419|PMID:32147272|PMID:32175104|PMID:32241597|PMID:32260281|PMID:32269045|PMID:32283892|PMID:32295625|PMID:32318955|PMID:32362280|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32770675|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33193653|PMID:33322525|PMID:33365374|PMID:33471991|PMID:34299313|PMID:34359559|PMID:34537906|PMID:34690920|PMID:35172483|PMID:8075649|PMID:8127895|PMID:9268661|PMID:9536098|PMID:9537325|PMID:9744472|PMID:9751616 11786103 CDH1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30542785|PMID:30563991|PMID:30661051|PMID:30716324|PMID:30745422|PMID:30895400|PMID:30935944|PMID:31077828|PMID:31159747|PMID:31206626|PMID:31246251|PMID:31296550|PMID:31422574|PMID:31465090|PMID:31511843|PMID:31514334|PMID:31600923|PMID:31642931|PMID:31780696|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31986421|PMID:32068069|PMID:32107087|PMID:32133419|PMID:32147272|PMID:32175104|PMID:32241597|PMID:32260281|PMID:32269045|PMID:32283892|PMID:32295625|PMID:32318955|PMID:32362280|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32770675|PMID:32885271|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33193653|PMID:33322525|PMID:33365374|PMID:33471991|PMID:33809393|PMID:34299313|PMID:34359559|PMID:34537906|PMID:34690920|PMID:35172483|PMID:8075649|PMID:8127895|PMID:9268661|PMID:9536098|PMID:9537325|PMID:9744472|PMID:9751616 11786103 CDH1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10072428|PMID:10094558|PMID:10211998|PMID:10319582|PMID:10357799|PMID:10433926|PMID:10477433|PMID:10896919|PMID:10973239|PMID:11104024|PMID:11196175|PMID:11241409|PMID:11305955|PMID:11313896|PMID:11332401|PMID:11419427|PMID:11434599|PMID:11598162|PMID:11665720|PMID:11705864|PMID:11747475|PMID:11857408|PMID:11948460|PMID:11968083|PMID:11968084|PMID:12096341|PMID:12216071|PMID:12414534|PMID:12532420|PMID:12588804|PMID:12647996|PMID:12800196|PMID:12944922|PMID:14033926|PMID:14158754|PMID:14500541|PMID:14562278|PMID:14630673|PMID:15138207|PMID:15173255|PMID:15235021|PMID:15288293|PMID:15313375|PMID:15322508|PMID:15457549|PMID:15735979|PMID:15750927|PMID:15780560|PMID:15831593|PMID:16061854|PMID:16112667|PMID:16199547|PMID:16501831|PMID:16527687|PMID:16571431|PMID:16787116|PMID:16801346|PMID:16924464|PMID:16929514|PMID:16997156|PMID:17126523|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17434710|PMID:17510211|PMID:17522512|PMID:17545690|PMID:17576681|PMID:17634464|PMID:17660459|PMID:17668349|PMID:18046629|PMID:18391748|PMID:18427545|PMID:18442100|PMID:18726070|PMID:18772194|PMID:18788075|PMID:19011631|PMID:19017792|PMID:19139070|PMID:19168852|PMID:19223545|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19408054|PMID:19725995|PMID:19965908|PMID:20066110|PMID:20233471|PMID:20371349|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21331337|PMID:21424370|PMID:21520333|PMID:21681551|PMID:21696387|PMID:21777349|PMID:21853084|PMID:21989054|PMID:22006311|PMID:22020549|PMID:22098830|PMID:22152101|PMID:22225527|PMID:22252131|PMID:22470475|PMID:22543498|PMID:22703879|PMID:22722829|PMID:22722839|PMID:22723466|PMID:22752307|PMID:22850631|PMID:22875147|PMID:22911296|PMID:22941188|PMID:23073328|PMID:23124477|PMID:2317870|PMID:23197654|PMID:23264079|PMID:23290073|PMID:23431106|PMID:23435907|PMID:23555086|PMID:23575477|PMID:23709761|PMID:23752020|PMID:24033266|PMID:24055113|PMID:24113346|PMID:24204729|PMID:24326041|PMID:24333020|PMID:24366306|PMID:24373500|PMID:24389957|PMID:24424122|PMID:2449335|PMID:24493355|PMID:24556621|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24784840|PMID:24817184|PMID:24969172|PMID:25067988|PMID:25123297|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25275298|PMID:25315765|PMID:25318351|PMID:25344691|PMID:25388006|PMID:25525159|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25771876|PMID:25819062|PMID:25856671|PMID:25862857|PMID:25882375|PMID:25927356|PMID:25980754|PMID:26010451|PMID:26022348|PMID:26025002|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26270727|PMID:26296696|PMID:26437033|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26486520|PMID:26517685|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26674224|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27064202|PMID:27121310|PMID:27146957|PMID:27151223|PMID:27153395|PMID:27203386|PMID:27227907|PMID:27276934|PMID:27284491|PMID:27392081|PMID:27443514|PMID:27477802|PMID:27498913|PMID:27499925|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27682646|PMID:27720647|PMID:27730413|PMID:27752808|PMID:27760322|PMID:27824116|PMID:27878467|PMID:27880784|PMID:27904775|PMID:27925203|PMID:27930734|PMID:27978560|PMID:27995193|PMID:28061482|PMID:28125075|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195815|PMID:28202063|PMID:28301459|PMID:28301460|PMID:28338653|PMID:28352678|PMID:28460635|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28522829|PMID:28577310|PMID:28580595|PMID:28590052|PMID:28608266|PMID:28640387|PMID:28649662|PMID:28688938|PMID:28699883|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28975465|PMID:28993866|PMID:29016666|PMID:29025585|PMID:29050249|PMID:29131691|PMID:29156750|PMID:29212164|PMID:29263802|PMID:29295527|PMID:29307626|PMID:29338689|PMID:29348693|PMID:29368341 11786103 CDH1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29371908|PMID:29416795|PMID:29431110|PMID:29454568|PMID:29470806|PMID:29522266|PMID:29577179|PMID:29589180|PMID:29641532|PMID:29752822|PMID:29769627|PMID:29785153|PMID:29798843|PMID:29805042|PMID:29926297|PMID:29928469|PMID:30014492|PMID:30089731|PMID:30093976|PMID:30239046|PMID:30256826|PMID:30264118|PMID:30287823|PMID:30306255|PMID:30306390|PMID:30311375|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30466290|PMID:30542785|PMID:30563991|PMID:30613976|PMID:30661051|PMID:30716324|PMID:30745422|PMID:30895400|PMID:30935944|PMID:30982232|PMID:31077828|PMID:31159747|PMID:31206626|PMID:31246251|PMID:31296550|PMID:31422574|PMID:31465090|PMID:31511843|PMID:31514334|PMID:31589614|PMID:31600923|PMID:31638429|PMID:31642931|PMID:31742824|PMID:31780696|PMID:31815095|PMID:31841163|PMID:31843900|PMID:31871109|PMID:31942411|PMID:31986421|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32133419|PMID:32147272|PMID:32175104|PMID:32241597|PMID:32260281|PMID:32269045|PMID:32283892|PMID:32295625|PMID:32318955|PMID:32362280|PMID:32426482|PMID:32427313|PMID:32489267|PMID:32521533|PMID:32529019|PMID:32566746|PMID:32658311|PMID:32701958|PMID:32720237|PMID:32770675|PMID:32842532|PMID:32885271|PMID:32886433|PMID:32906206|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33193653|PMID:33309985|PMID:33322525|PMID:33332384|PMID:33365374|PMID:33471991|PMID:33619332|PMID:33809393|PMID:33929593|PMID:33980423|PMID:34299313|PMID:34359559|PMID:34426522|PMID:34503169|PMID:34537906|PMID:34690920|PMID:35089076|PMID:35172483|PMID:35327954|PMID:35418818|PMID:36436516|PMID:36988593|PMID:8075649|PMID:8127895|PMID:8557030|PMID:9268661|PMID:9536098|PMID:9537325|PMID:9744472|PMID:9751616 11786103 CDH1 cadherin 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 11786103 CDH1 cadherin 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8075649 11786103 CDH1 cadherin 1 gene DOID:9007809 Neoplasm Seeding ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27224422 11786103 CDH1 cadherin 1 gene DOID:9008114 Helicobacter Infections ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19184424 11786103 CDH1 cadherin 1 gene DOID:9008138 Ductal Carcinoma ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29295717 11786103 CDH1 cadherin 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10072428|PMID:19011631 11786103 CDH1 cadherin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast tumor PMID:11305955|PMID:22703879|PMID:24728327|PMID:25741868|PMID:28492532 11786103 CDH1 cadherin 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:11305955|PMID:11332401|PMID:11598162|PMID:11747475|PMID:11948460|PMID:11968083|PMID:11968084|PMID:12588804|PMID:12800196|PMID:14500541|PMID:15173255|PMID:15235021|PMID:15750927|PMID:15831593|PMID:16061854|PMID:16199547|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17510211|PMID:17522512|PMID:17545690|PMID:17576681|PMID:18046629|PMID:18427545|PMID:18442100|PMID:18726070|PMID:18788075|PMID:19139070|PMID:19268661|PMID:19269290|PMID:19725995|PMID:19965908|PMID:20066110|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21424370|PMID:21681551|PMID:22006311|PMID:22225527|PMID:22470475|PMID:22703879|PMID:22723466|PMID:22850631|PMID:22911296|PMID:2317870|PMID:23197654|PMID:23264079|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:25067988|PMID:25123297|PMID:25186627|PMID:25231023|PMID:25275298|PMID:25388006|PMID:25525159|PMID:25593300|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26022348|PMID:26025002|PMID:26072394|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26681312|PMID:26759166|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27064202|PMID:27146957|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27682646|PMID:27930734|PMID:27978560|PMID:27995193|PMID:28135145|PMID:28166811|PMID:28202063|PMID:28301460|PMID:28492532|PMID:28590052|PMID:28608266|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28993866|PMID:29025585|PMID:29295527|PMID:29348693|PMID:29431110|PMID:29522266|PMID:29577179|PMID:29589180|PMID:29641532|PMID:29752822|PMID:30089731|PMID:30239046|PMID:30287823|PMID:30311375|PMID:30374176|PMID:30426508|PMID:30661051|PMID:30745422|PMID:31159747|PMID:31422574|PMID:31514334|PMID:31589614|PMID:31600923|PMID:31742824|PMID:31843900|PMID:31871109|PMID:32068069|PMID:32269045|PMID:32283892|PMID:32295625|PMID:32362280|PMID:32566746|PMID:32658311|PMID:32842532|PMID:32885271|PMID:33193653|PMID:33309985|PMID:33471991|PMID:33619332|PMID:33980423|PMID:35089076|PMID:36988593|PMID:8075649|PMID:9268661|PMID:9536098|PMID:9537325 11786103 CDH1 cadherin 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:737413 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:15863205|REF_RGD_ID:11252161 11786103 CDH1 cadherin 1 gene DOID:9256 colorectal cancer ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 11786103 CDH1 cadherin 1 gene DOID:9296 cleft lip ISO RGD:737413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cleft lip with or without cleft palate PMID:25741868|PMID:26123647|PMID:28492532|PMID:29348693|PMID:29805042 11786103 CDH1 cadherin 1 gene DOID:9296 cleft lip susceptibility ISO RGD:737413 D RGD:9068941 20200609 RGD DNA:splice-site mutation: :531+2T>A (human) PMID:15831593|REF_RGD_ID:1599548 11786103 CDH1 cadherin 1 gene DOID:9351 diabetes mellitus ISO RGD:737413 D RGD:9068941 20220527 RGD associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:decreased expression:lung (human) PMID:27411924|REF_RGD_ID:152975631 11786131 OSTF1 osteoclast stimulating factor 1 gene DOID:630 genetic disease ISO RGD:733236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11786144 FRK fyn related Src family tyrosine kinase gene DOID:0060163 body dysmorphic disorder ISO RGD:734122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 11786144 FRK fyn related Src family tyrosine kinase gene DOID:10603 glucose intolerance ISO RGD:734122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17179392 11786144 FRK fyn related Src family tyrosine kinase gene DOID:2907 Goldenhar syndrome ISO RGD:734122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Goldenhar syndrome 11786144 FRK fyn related Src family tyrosine kinase gene DOID:630 genetic disease ISO RGD:734122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11786163 EDEM1 ER degradation enhancing alpha-mannosidase like protein 1 gene DOID:0060478 Zika fever ISO RGD:1557813 D RGD:9068941 20200702 RGD mRNA:increased expression:brain PMID:30241539|REF_RGD_ID:32733625 11786163 EDEM1 ER degradation enhancing alpha-mannosidase like protein 1 gene DOID:630 genetic disease ISO RGD:1349759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11786163 EDEM1 ER degradation enhancing alpha-mannosidase like protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11786163 EDEM1 ER degradation enhancing alpha-mannosidase like protein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11786188 IL10RB interleukin 10 receptor subunit beta gene DOID:0050589 inflammatory bowel disease ISO RGD:1345772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 11786188 IL10RB interleukin 10 receptor subunit beta gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1345772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11786188 IL10RB interleukin 10 receptor subunit beta gene DOID:0060898 Parkinson's disease 20 ISO RGD:1345772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 11786188 IL10RB interleukin 10 receptor subunit beta gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1345772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11786188 IL10RB interleukin 10 receptor subunit beta gene DOID:0080600 COVID-19 ISO RGD:1345772 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 11786188 IL10RB interleukin 10 receptor subunit beta gene DOID:0081267 graft-versus-host disease disease_progression ISO RGD:1345772 D RGD:9068941 20200609 RGD DNA:SNP: :rs28341676 (human) PMID:19409109|REF_RGD_ID:11046269 11786188 IL10RB interleukin 10 receptor subunit beta gene DOID:0110909 inflammatory bowel disease 25 ISO RGD:1345772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 25 PMID:16199547|PMID:16757563|PMID:17576681|PMID:19890111|PMID:21519361|PMID:22549091|PMID:24033266|PMID:24089328|PMID:24216686|PMID:25373860|PMID:25741868|PMID:27336593|PMID:27699073|PMID:28492532|PMID:29248579|PMID:29531467|PMID:30365510|PMID:31931724|PMID:9536098 11786188 IL10RB interleukin 10 receptor subunit beta gene DOID:0110909 inflammatory bowel disease 25 susceptibility ISO RGD:1345772 D RGD:7240710 20230505 OMIM 11786188 IL10RB interleukin 10 receptor subunit beta gene DOID:0111995 immunodeficiency 28 ISO RGD:1345772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 28 PMID:28492532 11786188 IL10RB interleukin 10 receptor subunit beta gene DOID:2043 hepatitis B ISO RGD:1345772 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatitis B virus, susceptibility to PMID:16757563|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29248579 11786188 IL10RB interleukin 10 receptor subunit beta gene DOID:2043 hepatitis B susceptibility ISO RGD:1345772 D RGD:7240710 20190502 OMIM 11786188 IL10RB interleukin 10 receptor subunit beta gene DOID:2316 brain ischemia ISO RGD:1345772 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 11786188 IL10RB interleukin 10 receptor subunit beta gene DOID:630 genetic disease ISO RGD:1345772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11786188 IL10RB interleukin 10 receptor subunit beta gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1560373 D RGD:9068941 20200609 RGD protein:increased expression:ileum PMID:21240009|REF_RGD_ID:5490305 11786188 IL10RB interleukin 10 receptor subunit beta gene DOID:9005698 ZTTK Syndrome ISO RGD:1345772 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 11786259 CYRIB CYFIP related Rac1 interactor B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1354500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11786259 CYRIB CYFIP related Rac1 interactor B gene DOID:9775 diastolic heart failure ISO RGD:1354500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 11786296 STAM2 signal transducing adaptor molecule 2 gene DOID:630 genetic disease ISO RGD:1322986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11786314 ENDOV endonuclease V gene DOID:630 genetic disease ISO RGD:1602281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11786314 ENDOV endonuclease V gene DOID:9007536 Moyamoya Disease 2 ISO RGD:1602281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Moyamoya disease 2 11786338 TAS2R13 taste 2 receptor member 13 gene DOID:630 genetic disease ISO RGD:1344570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11786342 ABTB1 ankyrin repeat and BTB domain containing 1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1349137 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 11786342 ABTB1 ankyrin repeat and BTB domain containing 1 gene DOID:630 genetic disease ISO RGD:1349137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11786342 ABTB1 ankyrin repeat and BTB domain containing 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1349137 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 11786342 ABTB1 ankyrin repeat and BTB domain containing 1 gene DOID:9270 alkaptonuria ISO RGD:1349137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11786377 RP1 RP1 axonemal microtubule associated gene DOID:0110390 retinitis pigmentosa 1 ISO RGD:1318061 D RGD:7240710 20200611 OMIM 11786377 RP1 RP1 axonemal microtubule associated gene DOID:0110390 retinitis pigmentosa 1 ISO RGD:1318061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RP1-related retinal dystrophy | ClinVar Annotator: match by term: Retinitis pigmentosa 1 PMID:10391211|PMID:10391212|PMID:10401003|PMID:10465120|PMID:10845615|PMID:11095597|PMID:11317367|PMID:11527933|PMID:11694261|PMID:11960024|PMID:12764676|PMID:15183808|PMID:15863674|PMID:15994872|PMID:17576681|PMID:1783394|PMID:19933189|PMID:20664799|PMID:21147909|PMID:22317909|PMID:22917891|PMID:23077400|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24339724|PMID:25097241|PMID:25741868|PMID:26355662|PMID:26766544|PMID:27391102|PMID:27623337|PMID:28041643|PMID:28418496|PMID:28492532|PMID:29425069|PMID:29641573|PMID:29785639|PMID:29847639|PMID:30027431|PMID:30029497|PMID:30054919|PMID:30337596|PMID:30718709|PMID:30902645|PMID:30913292|PMID:31253780|PMID:31630094|PMID:32005865|PMID:32100970|PMID:32565670|PMID:32587456|PMID:33090715|PMID:33546218|PMID:33576794|PMID:33681214|PMID:33691693|PMID:33946315|PMID:8931712|PMID:9536098 11786377 RP1 RP1 axonemal microtubule associated gene DOID:10584 retinitis pigmentosa ISO RGD:1318061 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10484783|PMID:10845615|PMID:11095597|PMID:11317367|PMID:11527933|PMID:11694261|PMID:12764676|PMID:15183808|PMID:15863674|PMID:15994872|PMID:16597330|PMID:17576681|PMID:19933189|PMID:19956407|PMID:20664799|PMID:21147909|PMID:22052604|PMID:22317909|PMID:22334370|PMID:22917891|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24339724|PMID:25088982|PMID:25097241|PMID:25472526|PMID:25494902|PMID:25692139|PMID:25741868|PMID:26306921|PMID:26355662|PMID:26497376|PMID:27391102|PMID:27623337|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29425069|PMID:29785639|PMID:29912909|PMID:30027431|PMID:30054919|PMID:30337596|PMID:30718709|PMID:30913292|PMID:31253780|PMID:31456290|PMID:31833436|PMID:32005865|PMID:33546218|PMID:9536098 11786377 RP1 RP1 axonemal microtubule associated gene DOID:10584 retinitis pigmentosa ISO RGD:1318061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10484783|PMID:10845615|PMID:11095597|PMID:11139241|PMID:11317367|PMID:11527933|PMID:11694261|PMID:12764676|PMID:15183808|PMID:15863674|PMID:15994872|PMID:16597330|PMID:17576681|PMID:19933189|PMID:19956407|PMID:20664799|PMID:21147909|PMID:22052604|PMID:22317909|PMID:22334370|PMID:22917891|PMID:23077400|PMID:23105016|PMID:23950152|PMID:24033266|PMID:24265693|PMID:24339724|PMID:25088982|PMID:25097241|PMID:25472526|PMID:25494902|PMID:25692139|PMID:25741868|PMID:26306921|PMID:26355662|PMID:26497376|PMID:27391102|PMID:27623337|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29068140|PMID:29425069|PMID:29785639|PMID:29912909|PMID:30027431|PMID:30054919|PMID:30337596|PMID:30718709|PMID:30731082|PMID:30902645|PMID:30913292|PMID:31079053|PMID:31253780|PMID:31456290|PMID:31833436|PMID:32005865|PMID:32037395|PMID:32565670|PMID:32581362|PMID:32783370|PMID:33546218|PMID:33576794|PMID:33681214|PMID:9536098 11786377 RP1 RP1 axonemal microtubule associated gene DOID:3007 breast ductal carcinoma ISO RGD:1318061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 11786377 RP1 RP1 axonemal microtubule associated gene DOID:630 genetic disease ISO RGD:1318061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11527933|PMID:11960024|PMID:19933189|PMID:25883087|PMID:27160483|PMID:27208204|PMID:28492532|PMID:29425069|PMID:30027431|PMID:30731082 11786377 RP1 RP1 axonemal microtubule associated gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1318061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber optic atrophy PMID:28492532 11786377 RP1 RP1 axonemal microtubule associated gene DOID:8501 fundus dystrophy ISO RGD:1318061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10391211|PMID:10391212|PMID:10401003|PMID:11095597|PMID:11139241|PMID:11527933|PMID:1783394|PMID:19933189|PMID:22334370|PMID:23991373|PMID:24339724|PMID:25494902|PMID:25692139|PMID:25698705|PMID:25741868|PMID:26355662|PMID:27160483|PMID:27208204|PMID:27391102|PMID:28041643|PMID:28076437|PMID:28492532|PMID:29068140|PMID:29425069|PMID:29847639|PMID:30027431|PMID:30718709|PMID:30731082|PMID:30913292|PMID:31054281|PMID:31456290|PMID:32565670|PMID:32783370|PMID:33546218|PMID:33681214|PMID:8931712 11786377 RP1 RP1 axonemal microtubule associated gene DOID:9000343 Vision Disorders ISO RGD:1318061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:18791550|PMID:25741868|PMID:28492532 11786377 RP1 RP1 axonemal microtubule associated gene DOID:9000810 HYPERTRIGLYCERIDEMIA 1 ISO RGD:1318061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia, familial PMID:12764676|PMID:20664799|PMID:25741868|PMID:28492532 11786411 ZFAND6 zinc finger AN1-type containing 6 gene DOID:0050726 tyrosinemia type I ISO RGD:1345898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tyrosinemia type I PMID:28492532 11786411 ZFAND6 zinc finger AN1-type containing 6 gene DOID:2717 Bloom syndrome ISO RGD:1345898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11786411 ZFAND6 zinc finger AN1-type containing 6 gene DOID:37 skin disease ISO RGD:1345898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11786411 ZFAND6 zinc finger AN1-type containing 6 gene DOID:630 genetic disease ISO RGD:1345898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11786411 ZFAND6 zinc finger AN1-type containing 6 gene DOID:9007964 Arsenic Poisoning ISO RGD:1345898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11786411 ZFAND6 zinc finger AN1-type containing 6 gene DOID:9008456 Delayed Emergence from Anesthesia ISO RGD:1345898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16115977 11786411 ZFAND6 zinc finger AN1-type containing 6 gene DOID:9256 colorectal cancer ISO RGD:1345898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11786429 HKDC1 hexokinase domain containing 1 gene DOID:2843 long QT syndrome ISO RGD:1354446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11786429 HKDC1 hexokinase domain containing 1 gene DOID:630 genetic disease ISO RGD:1354446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11786429 HKDC1 hexokinase domain containing 1 gene DOID:9003318 Keratoconus 1 ISO RGD:1354446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 1 11786429 HKDC1 hexokinase domain containing 1 gene DOID:9003467 Retinitis Pigmentosa 92 ISO RGD:1354446 D RGD:7240710 20211201 OMIM 11786429 HKDC1 hexokinase domain containing 1 gene DOID:9003467 Retinitis Pigmentosa 92 ISO RGD:1354446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 92 PMID:30085091 11786429 HKDC1 hexokinase domain containing 1 gene DOID:9007661 Dwarfism ISO RGD:1354446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11786451 CEP43 centrosomal protein 43 gene DOID:630 genetic disease ISO RGD:1313011 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11786486 ACBD7 acyl-CoA binding domain containing 7 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1350250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11786486 ACBD7 acyl-CoA binding domain containing 7 gene DOID:630 genetic disease ISO RGD:1350250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11786494 TRAPPC11 trafficking protein particle complex subunit 11 gene DOID:0110287 autosomal recessive limb-girdle muscular dystrophy type 2S ISO RGD:1604800 D RGD:7240710 20180130 OMIM 11786494 TRAPPC11 trafficking protein particle complex subunit 11 gene DOID:0110287 autosomal recessive limb-girdle muscular dystrophy type 2S ISO RGD:1604800 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2S | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2S | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 PMID:16199547|PMID:17576681|PMID:23830518|PMID:24033266|PMID:25326635|PMID:25741868|PMID:26322222|PMID:26467025|PMID:26912795|PMID:27707803|PMID:27862579|PMID:28327206|PMID:28482373|PMID:28492532|PMID:29158550|PMID:29855340|PMID:30105108|PMID:31575891|PMID:9536098 11786494 TRAPPC11 trafficking protein particle complex subunit 11 gene DOID:1059 intellectual disability ISO RGD:1604800 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:28492532 11786494 TRAPPC11 trafficking protein particle complex subunit 11 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1604800 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:23830518|PMID:24033266|PMID:26322222|PMID:27707803|PMID:28492532|PMID:30105108 11786494 TRAPPC11 trafficking protein particle complex subunit 11 gene DOID:423 myopathy ISO RGD:1604800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy 11786494 TRAPPC11 trafficking protein particle complex subunit 11 gene DOID:630 genetic disease ISO RGD:1604800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 11786494 TRAPPC11 trafficking protein particle complex subunit 11 gene DOID:9007661 Dwarfism ISO RGD:1604800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:28492532 11786494 TRAPPC11 trafficking protein particle complex subunit 11 gene DOID:9008732 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 ISO RGD:1604800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23 PMID:17576681|PMID:23830518|PMID:25741868|PMID:28492532|PMID:29158550|PMID:31575891|PMID:9536098 11786534 SYN3 synapsin III gene DOID:0060041 autism spectrum disorder ISO RGD:736492 D RGD:9068941 20220825 MouseDO 11786534 SYN3 synapsin III gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:736491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 11786534 SYN3 synapsin III gene DOID:0090114 Sorsby's fundus dystrophy ISO RGD:736491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sorsby fundus dystrophy PMID:10854443|PMID:25741868|PMID:27601084|PMID:28492532|PMID:31415707|PMID:7148944|PMID:7894485|PMID:8634721|PMID:8639088|PMID:8919688|PMID:8981947 11786534 SYN3 synapsin III gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:736491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 11786534 SYN3 synapsin III gene DOID:630 genetic disease ISO RGD:736491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11786534 SYN3 synapsin III gene DOID:8501 fundus dystrophy ISO RGD:736491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:23023527|PMID:26493035|PMID:27601084|PMID:28492532|PMID:28559085 11786534 SYN3 synapsin III gene DOID:9003601 Pseudoinflammatory Fundus Dystrophy, Finnish Type ISO RGD:736491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fundus dystrophy, pseudoinflammatory, recessive form PMID:25741868|PMID:28492532 11786564 COL13A1 collagen type XIII alpha 1 chain gene DOID:0110673 congenital myasthenic syndrome 19 ISO RGD:1607090 D RGD:7240710 20180130 OMIM 11786564 COL13A1 collagen type XIII alpha 1 chain gene DOID:0110673 congenital myasthenic syndrome 19 ISO RGD:1607090 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 19 PMID:16199547|PMID:17576681|PMID:25741868|PMID:26626625|PMID:28492532|PMID:30767057|PMID:31081514|PMID:9536098 11786564 COL13A1 collagen type XIII alpha 1 chain gene DOID:3635 congenital myasthenic syndrome ISO RGD:1607090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11786564 COL13A1 collagen type XIII alpha 1 chain gene DOID:630 genetic disease ISO RGD:1607090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11786564 COL13A1 collagen type XIII alpha 1 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:1607090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11786636 ADGRL2 adhesion G protein-coupled receptor L2 gene DOID:10907 microcephaly ISO RGD:1331928 D RGD:9068941 20200609 RGD PMID:30340542|REF_RGD_ID:13838661 11786636 ADGRL2 adhesion G protein-coupled receptor L2 gene DOID:630 genetic disease ISO RGD:732054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11786713 ARL6IP6 ADP ribosylation factor like GTPase 6 interacting protein 6 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1347021 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868 11786713 ARL6IP6 ADP ribosylation factor like GTPase 6 interacting protein 6 gene DOID:630 genetic disease ISO RGD:1347021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11786721 LOC100974936 adhesion G protein-coupled receptor E2 gene DOID:1554 vibratory urticaria ISO RGD:1345702 D RGD:7240710 20180130 OMIM 11786721 LOC100974936 adhesion G protein-coupled receptor E2 gene DOID:1554 vibratory urticaria ISO RGD:1345702 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Vibratory urticaria PMID:25741868|PMID:28492532|PMID:7294069 11786721 LOC100974936 adhesion G protein-coupled receptor E2 gene DOID:630 genetic disease ISO RGD:1345702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11786721 LOC100974936 adhesion G protein-coupled receptor E2 gene DOID:743 dermatographia ISO RGD:1345702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11786739 SLC30A1 solute carrier family 30 member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:731339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11786739 SLC30A1 solute carrier family 30 member 1 gene DOID:630 genetic disease ISO RGD:731339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11786739 SLC30A1 solute carrier family 30 member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11786746 TUBGCP4 tubulin gamma complex associated protein 4 gene DOID:0080105 microcephaly and chorioretinopathy 1 ISO RGD:1603663 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11786746 TUBGCP4 tubulin gamma complex associated protein 4 gene DOID:0080107 microcephaly and chorioretinopathy 3 ISO RGD:1603663 D RGD:7240710 20180130 OMIM 11786746 TUBGCP4 tubulin gamma complex associated protein 4 gene DOID:0080107 microcephaly and chorioretinopathy 3 ISO RGD:1603663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 3 PMID:16199547|PMID:24033266|PMID:25741868|PMID:25817018|PMID:28492532 11786746 TUBGCP4 tubulin gamma complex associated protein 4 gene DOID:2717 Bloom syndrome ISO RGD:1603663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11786746 TUBGCP4 tubulin gamma complex associated protein 4 gene DOID:630 genetic disease ISO RGD:1603663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11786746 TUBGCP4 tubulin gamma complex associated protein 4 gene DOID:9256 colorectal cancer ISO RGD:1603663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11786771 SGPP2 sphingosine-1-phosphate phosphatase 2 gene DOID:630 genetic disease ISO RGD:1346522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11786771 SGPP2 sphingosine-1-phosphate phosphatase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11786779 B4GALNT4 beta-1,4-N-acetyl-galactosaminyltransferase 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11786779 B4GALNT4 beta-1,4-N-acetyl-galactosaminyltransferase 4 gene DOID:0111969 immunodeficiency 39 ISO RGD:1602277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11786779 B4GALNT4 beta-1,4-N-acetyl-galactosaminyltransferase 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11786779 B4GALNT4 beta-1,4-N-acetyl-galactosaminyltransferase 4 gene DOID:630 genetic disease ISO RGD:1602277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11786802 DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:0060041 autism spectrum disorder ISO RGD:1348350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 11786802 DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:10923 sickle cell anemia ISO RGD:1348350 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 11786802 DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:12849 autistic disorder ISO RGD:1348350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11786802 DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1348350 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 11786802 DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11786802 DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:5419 schizophrenia ISO RGD:1348350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11786802 DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:630 genetic disease ISO RGD:1348350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11786802 DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:8445 intestinal volvulus ISO RGD:1348350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11786802 DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:9001885 Nuclear Type Mitochondrial Complex I Deficiency 38 ISO RGD:1348350 D RGD:7240710 20210707 OMIM 11786802 DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:9001885 Nuclear Type Mitochondrial Complex I Deficiency 38 ISO RGD:1348350 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Leber hereditary optic neuropathy, autosomal recessive PMID:25741868|PMID:33465056|PMID:35148383 11786802 DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11786802 DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1348350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11786808 IQCC IQ motif containing C gene DOID:11612 polycystic ovary syndrome ISO RGD:1343946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11786808 IQCC IQ motif containing C gene DOID:630 genetic disease ISO RGD:1343946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11786822 NADK2 NAD kinase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1604237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11786822 NADK2 NAD kinase 2, mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11786822 NADK2 NAD kinase 2, mitochondrial gene DOID:9005948 2,4-Dienoyl-CoA Reductase Deficiency ISO RGD:1604237 D RGD:7240710 20180130 OMIM 11786822 NADK2 NAD kinase 2, mitochondrial gene DOID:9005948 2,4-Dienoyl-CoA Reductase Deficiency ISO RGD:1604237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 2,4-Dienoyl-CoA reductase deficiency PMID:17576681|PMID:24847004|PMID:25741868|PMID:27940755|PMID:28492532|PMID:29388319|PMID:33223529|PMID:9536098 11786852 KIF18B kinesin family member 18B gene DOID:0080600 COVID-19 ISO RGD:2292085 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11786852 KIF18B kinesin family member 18B gene DOID:1909 melanoma ISO RGD:2292085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31617652 11786852 KIF18B kinesin family member 18B gene DOID:684 hepatocellular carcinoma ISO RGD:2292085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11786881 PLAA phospholipase A2 activating protein gene DOID:0090020 split hand-foot malformation ISO RGD:737277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectrodactyly PMID:16199547|PMID:25741868|PMID:28492532|PMID:30755392 11786881 PLAA phospholipase A2 activating protein gene DOID:630 genetic disease ISO RGD:737277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:25741868|PMID:28492532|PMID:30755392 11786881 PLAA phospholipase A2 activating protein gene DOID:9005372 Inflammation ISO RGD:737277 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11094054 11786881 PLAA phospholipase A2 activating protein gene DOID:9006140 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies ISO RGD:737277 D RGD:7240710 20190315 OMIM 11786881 PLAA phospholipase A2 activating protein gene DOID:9006140 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies ISO RGD:737277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies PMID:25741868|PMID:28007986|PMID:28413018|PMID:28492532|PMID:31322726 11786902 LRRC19 leucine rich repeat containing 19 gene DOID:630 genetic disease ISO RGD:1350270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11786911 ATP6V0E1 ATPase H+ transporting V0 subunit e1 gene DOID:0110112 atrial heart septal defect 7 ISO RGD:1350958 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 11786911 ATP6V0E1 ATPase H+ transporting V0 subunit e1 gene DOID:10652 Alzheimer's disease ISO RGD:1553358 D RGD:9068941 20200609 RGD PMID:23211594|REF_RGD_ID:10401913 11786911 ATP6V0E1 ATPase H+ transporting V0 subunit e1 gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:1350958 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 11786933 SYTL4 synaptotagmin like 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:734138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11786933 SYTL4 synaptotagmin like 4 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:734138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:21053371|PMID:23712037|PMID:27179713|PMID:28492532|PMID:29377098 11786933 SYTL4 synaptotagmin like 4 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:734138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 11786933 SYTL4 synaptotagmin like 4 gene DOID:12849 autistic disorder ISO RGD:734138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11786933 SYTL4 synaptotagmin like 4 gene DOID:630 genetic disease ISO RGD:734138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11786933 SYTL4 synaptotagmin like 4 gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:734138 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 11786957 COQ3 coenzyme Q3, methyltransferase gene DOID:630 genetic disease ISO RGD:732708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11786968 SPATA7 spermatogenesis associated 7 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:1345087 D RGD:7240710 20180130 OMIM 11786968 SPATA7 spermatogenesis associated 7 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:1345087 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 | ClinVar Annotator: match by term: Retinitis pigmentosa 94, variable age at onset PMID:16199547|PMID:17576681|PMID:19268277|PMID:20104588|PMID:20301475|PMID:21310915|PMID:21602930|PMID:22136677|PMID:22334370|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24938718|PMID:25133751|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26854980|PMID:27208204|PMID:28481129|PMID:28492532|PMID:28714225|PMID:29186038|PMID:29411205|PMID:30054919|PMID:31908400|PMID:32865313|PMID:9536098 11786968 SPATA7 spermatogenesis associated 7 gene DOID:10584 retinitis pigmentosa ISO RGD:1345087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:25741868|PMID:26355662|PMID:28481129|PMID:28492532|PMID:9536098 11786968 SPATA7 spermatogenesis associated 7 gene DOID:10584 retinitis pigmentosa ISO RGD:1345087 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:25741868|PMID:26261414|PMID:26306921|PMID:26355662|PMID:28481129|PMID:28492532|PMID:30054919|PMID:31908400 11786968 SPATA7 spermatogenesis associated 7 gene DOID:10584 retinitis pigmentosa ISO RGD:1345087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:19268277|PMID:22334370|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26261414|PMID:26306921|PMID:26355662|PMID:28481129|PMID:28492532|PMID:30054919|PMID:31908400|PMID:9536098 11786968 SPATA7 spermatogenesis associated 7 gene DOID:14791 Leber congenital amaurosis ISO RGD:1345087 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:19268277|PMID:20104588|PMID:21310915|PMID:22334370|PMID:23847139|PMID:24265693|PMID:25741868|PMID:26047050|PMID:26261414|PMID:26854980|PMID:28492532|PMID:31908400 11786968 SPATA7 spermatogenesis associated 7 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1345087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11786968 SPATA7 spermatogenesis associated 7 gene DOID:630 genetic disease ISO RGD:1345087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11786968 SPATA7 spermatogenesis associated 7 gene DOID:8501 fundus dystrophy ISO RGD:1345087 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:19268277|PMID:21310915|PMID:22136677|PMID:22334370|PMID:23847139|PMID:25133751|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26261414|PMID:27208204|PMID:28492532|PMID:29411205 11786995 SIRPB2 signal regulatory protein beta 2 gene DOID:630 genetic disease ISO RGD:1320248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787006 HHIPL1 HHIP like 1 gene DOID:10283 prostate cancer ISO RGD:1349549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11787006 HHIPL1 HHIP like 1 gene DOID:3393 coronary artery disease ISO RGD:1349549 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 11787006 HHIPL1 HHIP like 1 gene DOID:630 genetic disease ISO RGD:1349549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787024 DNAJC5B DnaJ heat shock protein family (Hsp40) member C5 beta gene DOID:630 genetic disease ISO RGD:1348913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787038 ARMC1 armadillo repeat containing 1 gene DOID:630 genetic disease ISO RGD:1343337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787051 GRM2 glutamate metabotropic receptor 2 gene DOID:3328 temporal lobe epilepsy ISO RGD:732930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18804094 11787051 GRM2 glutamate metabotropic receptor 2 gene DOID:5419 schizophrenia ISO RGD:732930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18923069 11787051 GRM2 glutamate metabotropic receptor 2 gene DOID:630 genetic disease ISO RGD:732930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787051 GRM2 glutamate metabotropic receptor 2 gene DOID:670 amphetamine abuse ISO RGD:732930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20211215 11787051 GRM2 glutamate metabotropic receptor 2 gene DOID:8646 substance-induced psychosis ISO RGD:732930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20211215 11787051 GRM2 glutamate metabotropic receptor 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:2743 D RGD:9068941 20200821 RGD knockout compared to wild type PMID:28700935|REF_RGD_ID:38501064 11787051 GRM2 glutamate metabotropic receptor 2 gene DOID:9976 heroin dependence ISO RGD:2743 D RGD:9068941 20200814 RGD PMID:30283001|REF_RGD_ID:38501063 11787063 EFNA3 ephrin A3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1352863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11787063 EFNA3 ephrin A3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1352863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11787063 EFNA3 ephrin A3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1352863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11787063 EFNA3 ephrin A3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1352863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11787063 EFNA3 ephrin A3 gene DOID:1540 parathyroid carcinoma ISO RGD:1352863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11787063 EFNA3 ephrin A3 gene DOID:5812 MHC class II deficiency ISO RGD:1352863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11787063 EFNA3 ephrin A3 gene DOID:630 genetic disease ISO RGD:1352863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787063 EFNA3 ephrin A3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11787075 REM1 RRAD and GEM like GTPase 1 gene DOID:2843 long QT syndrome ISO RGD:1315248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11787075 REM1 RRAD and GEM like GTPase 1 gene DOID:630 genetic disease ISO RGD:1315248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787083 PPP3R2 protein phosphatase 3 regulatory subunit B, beta gene DOID:0081292 traumatic brain injury ISO RGD:69232 D RGD:9068941 20200609 RGD PMID:20713027|REF_RGD_ID:13830881 11787083 PPP3R2 protein phosphatase 3 regulatory subunit B, beta gene DOID:1059 intellectual disability ISO RGD:1346251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11787083 PPP3R2 protein phosphatase 3 regulatory subunit B, beta gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:1346251 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:18541450|PMID:28492532 11787083 PPP3R2 protein phosphatase 3 regulatory subunit B, beta gene DOID:630 genetic disease ISO RGD:1346251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787083 PPP3R2 protein phosphatase 3 regulatory subunit B, beta gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:1346251 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose intolerance PMID:18541450|PMID:28492532 11787089 ZNF621 zinc finger protein 621 gene DOID:630 genetic disease ISO RGD:1354066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787152 ZNF579 zinc finger protein 579 gene DOID:630 genetic disease ISO RGD:1318265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787153 PLCB2 phospholipase C beta 2 gene DOID:13501 Moebius syndrome ISO RGD:732409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 11787153 PLCB2 phospholipase C beta 2 gene DOID:2717 Bloom syndrome ISO RGD:732409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11787153 PLCB2 phospholipase C beta 2 gene DOID:630 genetic disease ISO RGD:732409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787153 PLCB2 phospholipase C beta 2 gene DOID:9256 colorectal cancer ISO RGD:732409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11787203 SORBS2 sorbin and SH3 domain containing 2 gene DOID:12849 autistic disorder ISO RGD:732975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11787203 SORBS2 sorbin and SH3 domain containing 2 gene DOID:630 genetic disease ISO RGD:732975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787203 SORBS2 sorbin and SH3 domain containing 2 gene DOID:9004657 Weight Gain ISO RGD:732975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11787203 SORBS2 sorbin and SH3 domain containing 2 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:732975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 11787270 TOMM40 translocase of outer mitochondrial membrane 40 gene DOID:10652 Alzheimer's disease ISO RGD:1343121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27023435|PMID:29107063|PMID:30319691|PMID:30320580 11787270 TOMM40 translocase of outer mitochondrial membrane 40 gene DOID:3526 cerebral infarction ISO RGD:1343121 D RGD:9068941 20200609 RGD DNA:SNP: :rs2075650 (human) PMID:26171154|REF_RGD_ID:13464126 11787270 TOMM40 translocase of outer mitochondrial membrane 40 gene DOID:3910 lung adenocarcinoma ISO RGD:1343121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11787270 TOMM40 translocase of outer mitochondrial membrane 40 gene DOID:630 genetic disease ISO RGD:1343121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787270 TOMM40 translocase of outer mitochondrial membrane 40 gene DOID:9003370 Dyslipidemias ISO RGD:1343121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29670124 11787270 TOMM40 translocase of outer mitochondrial membrane 40 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1303022 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:23255365|REF_RGD_ID:13463486 11787270 TOMM40 translocase of outer mitochondrial membrane 40 gene DOID:9006205 Animal Disease Models ISO RGD:1343121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11787292 LOC100968198 olfactory receptor 10Q1 gene DOID:1059 intellectual disability ISO RGD:1352906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11787292 LOC100968198 olfactory receptor 10Q1 gene DOID:630 genetic disease ISO RGD:1352906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787300 CYP4F8 cytochrome P450 family 4 subfamily F member 8 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1353889 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs2283606) T>C (human) PMID:27354594|REF_RGD_ID:152177496 11787300 CYP4F8 cytochrome P450 family 4 subfamily F member 8 gene DOID:0060041 autism spectrum disorder ISO RGD:1353889 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11787300 CYP4F8 cytochrome P450 family 4 subfamily F member 8 gene DOID:630 genetic disease ISO RGD:1353889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787322 TAF1L TATA-box binding protein associated factor 1 like gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1354016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11787322 TAF1L TATA-box binding protein associated factor 1 like gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1354016 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11787322 TAF1L TATA-box binding protein associated factor 1 like gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1354016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11787322 TAF1L TATA-box binding protein associated factor 1 like gene DOID:630 genetic disease ISO RGD:1354016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787322 TAF1L TATA-box binding protein associated factor 1 like gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354016 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11787322 TAF1L TATA-box binding protein associated factor 1 like gene DOID:9562 primary ciliary dyskinesia ISO RGD:1354016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11787322 TAF1L TATA-box binding protein associated factor 1 like gene DOID:9870 galactosemia ISO RGD:1354016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11787328 THRA thyroid hormone receptor alpha gene DOID:0070128 congenital nongoitrous hypothyroidism 6 ISO RGD:736295 D RGD:7240710 20180130 OMIM 11787328 THRA thyroid hormone receptor alpha gene DOID:0070128 congenital nongoitrous hypothyroidism 6 ISO RGD:736295 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 6 PMID:11075809|PMID:22168587|PMID:22494134|PMID:24969835|PMID:25326635|PMID:25670821|PMID:25741868|PMID:28492532|PMID:34008892 11787328 THRA thyroid hormone receptor alpha gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:736295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 11787328 THRA thyroid hormone receptor alpha gene DOID:11633 thyroid hormone resistance syndrome ISO RGD:11415 D RGD:9068941 20220825 MouseDO OMIM:188570 | OMIM:274300 11787328 THRA thyroid hormone receptor alpha gene DOID:1612 breast cancer ISO RGD:736295 D RGD:9068941 20200609 RGD PMID:12082618|REF_RGD_ID:2315096 11787328 THRA thyroid hormone receptor alpha gene DOID:289 endometriosis ISO RGD:736295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 11787328 THRA thyroid hormone receptor alpha gene DOID:4450 renal cell carcinoma ISO RGD:736295 D RGD:9068941 20200609 RGD DNA:mutations (human) PMID:11756220|REF_RGD_ID:2315097 11787328 THRA thyroid hormone receptor alpha gene DOID:630 genetic disease ISO RGD:736295 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24969835|PMID:25741868 11787328 THRA thyroid hormone receptor alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11787328 THRA thyroid hormone receptor alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3857 D RGD:9068941 20200609 RGD associated with Myocardial Infarction;protein:increased expression:heart PMID:17389455|REF_RGD_ID:2314321 11787328 THRA thyroid hormone receptor alpha gene DOID:9009073 Diaphragmatic Hernia ISO RGD:736295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11685700 11787341 B3GLCT beta 3-glucosyltransferase gene DOID:0080201 Peters plus syndrome ISO RGD:1604745 D RGD:7240710 20180130 OMIM 11787341 B3GLCT beta 3-glucosyltransferase gene DOID:0080201 Peters plus syndrome ISO RGD:1604745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Peters plus syndrome PMID:16199547|PMID:16909395|PMID:17576681|PMID:18199743|PMID:18798333|PMID:19796186|PMID:20301637|PMID:23161355|PMID:23213277|PMID:23889335|PMID:25741868|PMID:26684045|PMID:28492532|PMID:32204707|PMID:9536098 11787341 B3GLCT beta 3-glucosyltransferase gene DOID:630 genetic disease ISO RGD:1604745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18798333|PMID:19796186|PMID:28492532 11787341 B3GLCT beta 3-glucosyltransferase gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1604745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11787361 LCE1D late cornified envelope 1D gene DOID:0111940 immunodeficiency 42 ISO RGD:1354412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11787361 LCE1D late cornified envelope 1D gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1354412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11787361 LCE1D late cornified envelope 1D gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1354412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11787361 LCE1D late cornified envelope 1D gene DOID:1540 parathyroid carcinoma ISO RGD:1354412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11787361 LCE1D late cornified envelope 1D gene DOID:5812 MHC class II deficiency ISO RGD:1354412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11787361 LCE1D late cornified envelope 1D gene DOID:630 genetic disease ISO RGD:1354412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787361 LCE1D late cornified envelope 1D gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11787368 KCTD14 potassium channel tetramerization domain containing 14 gene DOID:1059 intellectual disability ISO RGD:1315042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11787368 KCTD14 potassium channel tetramerization domain containing 14 gene DOID:630 genetic disease ISO RGD:1315042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787375 GEMIN6 gem nuclear organelle associated protein 6 gene DOID:0080690 RASopathy ISO RGD:1322484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11787375 GEMIN6 gem nuclear organelle associated protein 6 gene DOID:3883 Lynch syndrome ISO RGD:1322484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11787375 GEMIN6 gem nuclear organelle associated protein 6 gene DOID:630 genetic disease ISO RGD:1322484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787385 DCT dopachrome tautomerase gene DOID:0110878 holoprosencephaly 5 ISO RGD:1342702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 11787385 DCT dopachrome tautomerase gene DOID:630 genetic disease ISO RGD:1342702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787385 DCT dopachrome tautomerase gene DOID:9001386 Albinism ISO RGD:1342702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Albinism PMID:33100333 11787385 DCT dopachrome tautomerase gene DOID:9001432 Oculocutaneous Albinism Type VIII ISO RGD:1342702 D RGD:7240710 20210203 OMIM 11787385 DCT dopachrome tautomerase gene DOID:9001432 Oculocutaneous Albinism Type VIII ISO RGD:1342702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE VIII PMID:33100333|PMID:33959807 11787385 DCT dopachrome tautomerase gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1342702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11787400 ZBTB8A zinc finger and BTB domain containing 8A gene DOID:630 genetic disease ISO RGD:1318711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787428 KCNJ4 potassium inwardly rectifying channel subfamily J member 4 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:733316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11787428 KCNJ4 potassium inwardly rectifying channel subfamily J member 4 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:733316 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11787428 KCNJ4 potassium inwardly rectifying channel subfamily J member 4 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:733316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11787428 KCNJ4 potassium inwardly rectifying channel subfamily J member 4 gene DOID:10283 prostate cancer ISO RGD:733316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11787428 KCNJ4 potassium inwardly rectifying channel subfamily J member 4 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:733316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11787428 KCNJ4 potassium inwardly rectifying channel subfamily J member 4 gene DOID:14330 Parkinson's disease ISO RGD:733316 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18619942 11787428 KCNJ4 potassium inwardly rectifying channel subfamily J member 4 gene DOID:3910 lung adenocarcinoma ISO RGD:733316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30512237 11787428 KCNJ4 potassium inwardly rectifying channel subfamily J member 4 gene DOID:630 genetic disease ISO RGD:733316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787428 KCNJ4 potassium inwardly rectifying channel subfamily J member 4 gene DOID:9002955 Nerve Degeneration ISO RGD:733316 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18619942 11787440 FAM219A family with sequence similarity 219 member A gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1350147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11787440 FAM219A family with sequence similarity 219 member A gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1350147 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11787440 FAM219A family with sequence similarity 219 member A gene DOID:0080942 anauxetic dysplasia ISO RGD:1350147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11787440 FAM219A family with sequence similarity 219 member A gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1350147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11787440 FAM219A family with sequence similarity 219 member A gene DOID:630 genetic disease ISO RGD:1350147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787440 FAM219A family with sequence similarity 219 member A gene DOID:9562 primary ciliary dyskinesia ISO RGD:1350147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11787440 FAM219A family with sequence similarity 219 member A gene DOID:9870 galactosemia ISO RGD:1350147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11787456 FABP12 fatty acid binding protein 12 gene DOID:630 genetic disease ISO RGD:2302158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787465 LOC100978041 adaptor related protein complex 3 subunit sigma 2 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1350010 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 11787465 LOC100978041 adaptor related protein complex 3 subunit sigma 2 gene DOID:2717 Bloom syndrome ISO RGD:1350010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11787465 LOC100978041 adaptor related protein complex 3 subunit sigma 2 gene DOID:630 genetic disease ISO RGD:1350010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787465 LOC100978041 adaptor related protein complex 3 subunit sigma 2 gene DOID:9256 colorectal cancer ISO RGD:1350010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11787465 LOC100978041 adaptor related protein complex 3 subunit sigma 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21874001 11787481 GPR139 G protein-coupled receptor 139 gene DOID:630 genetic disease ISO RGD:1323337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787487 IZUMO1R IZUMO1 receptor, JUNO gene DOID:1059 intellectual disability ISO RGD:2303851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11787487 IZUMO1R IZUMO1 receptor, JUNO gene DOID:630 genetic disease ISO RGD:2303851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787493 TFDP3 transcription factor Dp family member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11787493 TFDP3 transcription factor Dp family member 3 gene DOID:12849 autistic disorder ISO RGD:1353749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11787493 TFDP3 transcription factor Dp family member 3 gene DOID:630 genetic disease ISO RGD:1353749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787499 PATE3 prostate and testis expressed 3 gene DOID:0110877 holoprosencephaly 11 ISO RGD:2302531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11787499 PATE3 prostate and testis expressed 3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:2302531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11787499 PATE3 prostate and testis expressed 3 gene DOID:5419 schizophrenia ISO RGD:2302531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11787499 PATE3 prostate and testis expressed 3 gene DOID:630 genetic disease ISO RGD:2302531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787499 PATE3 prostate and testis expressed 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:2302531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11787499 PATE3 prostate and testis expressed 3 gene DOID:9007661 Dwarfism ISO RGD:2302531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11787506 PARP16 poly(ADP-ribose) polymerase family member 16 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1350046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11787506 PARP16 poly(ADP-ribose) polymerase family member 16 gene DOID:2717 Bloom syndrome ISO RGD:1350046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11787506 PARP16 poly(ADP-ribose) polymerase family member 16 gene DOID:630 genetic disease ISO RGD:1350046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787506 PARP16 poly(ADP-ribose) polymerase family member 16 gene DOID:9256 colorectal cancer ISO RGD:1350046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11787526 PRLR prolactin receptor gene DOID:0050547 familial medullary thyroid carcinoma ISO RGD:11157 D RGD:9068941 20220825 MouseDO OMIM:155240 11787526 PRLR prolactin receptor gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:730871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:28492532 11787526 PRLR prolactin receptor gene DOID:12700 hyperprolactinemia ISO RGD:730871 D RGD:7240710 20180130 OMIM 11787526 PRLR prolactin receptor gene DOID:12700 hyperprolactinemia ISO RGD:730871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hyperprolactinemia PMID:25741868|PMID:30575453 11787526 PRLR prolactin receptor gene DOID:12849 autistic disorder ISO RGD:730871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18207134 11787526 PRLR prolactin receptor gene DOID:289 endometriosis ISO RGD:730871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11787526 PRLR prolactin receptor gene DOID:305 carcinoma ISO RGD:730871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942|PMID:17173897 11787526 PRLR prolactin receptor gene DOID:5419 schizophrenia ISO RGD:730871 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11787526 PRLR prolactin receptor gene DOID:5426 primary ovarian insufficiency ISO RGD:730871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11787526 PRLR prolactin receptor gene DOID:630 genetic disease ISO RGD:730871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787526 PRLR prolactin receptor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:730871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942|PMID:17173897 11787526 PRLR prolactin receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11787526 PRLR prolactin receptor gene DOID:9003281 Spontaneous Abortions ISO RGD:730871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11787526 PRLR prolactin receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11787526 PRLR prolactin receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3407 D RGD:9068941 20220324 RGD mRNA:increased expression:mammary gland (rat) PMID:16316942|REF_RGD_ID:2306898 11787526 PRLR prolactin receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11787526 PRLR prolactin receptor gene DOID:9006829 Multiple Fibroadenomas of the Breast ISO RGD:730871 D RGD:7240710 20180130 OMIM 11787526 PRLR prolactin receptor gene DOID:9006829 Multiple Fibroadenomas of the Breast ISO RGD:730871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple fibroadenomas of the breast PMID:18779591 11787553 STMN2 stathmin 2 gene DOID:630 genetic disease ISO RGD:69000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787566 NDUFA3 NADH:ubiquinone oxidoreductase subunit A3 gene DOID:630 genetic disease ISO RGD:1323447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787580 PTX3 pentraxin 3 gene DOID:0050073 invasive aspergillosis ISO RGD:1343528 D RGD:9068941 20200820 RGD protein:increased expression:bronchoalveolar lavage fluid (human) PMID:28487045|REF_RGD_ID:38508892 11787580 PTX3 pentraxin 3 gene DOID:0050073 invasive aspergillosis severity ISO RGD:1343528 D RGD:9068941 20200820 RGD DNA:SNPs, missense mutation:intron, cds:rs2305619, rs1840680, rs3816527 PMID:30275011|REF_RGD_ID:38501097 11787580 PTX3 pentraxin 3 gene DOID:0050153 pulmonary aspergilloma ISO RGD:1343528 D RGD:9068941 20200820 RGD protein:increased expression:bronchoalveolar lavage fluid, plasma (human) PMID:29964232|REF_RGD_ID:38508894 11787580 PTX3 pentraxin 3 gene DOID:1003 pelvic inflammatory disease ISO RGD:1343528 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:21679133|REF_RGD_ID:38508897 11787580 PTX3 pentraxin 3 gene DOID:14115 toxic shock syndrome ISO RGD:1343528 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:30687307|REF_RGD_ID:38508896 11787580 PTX3 pentraxin 3 gene DOID:1485 cystic fibrosis susceptibility ISO RGD:1343528 D RGD:9068941 20200716 RGD DNA:SNP:exon:rs35948036(human) PMID:20927127|REF_RGD_ID:35673347 11787580 PTX3 pentraxin 3 gene DOID:1883 hepatitis C severity ISO RGD:1343528 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:26400151|REF_RGD_ID:11554449 11787580 PTX3 pentraxin 3 gene DOID:37 skin disease ISO RGD:1343528 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11787580 PTX3 pentraxin 3 gene DOID:3770 pulmonary fibrosis ISO RGD:1343528 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22210019 11787580 PTX3 pentraxin 3 gene DOID:630 genetic disease ISO RGD:1343528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787580 PTX3 pentraxin 3 gene DOID:9000522 Invasive Candidiasis severity ISO RGD:1343528 D RGD:9068941 20200820 RGD associated with hematologic cancer;DNA:SNP:intron:rs1840680 PMID:30275011|REF_RGD_ID:38501097 11787580 PTX3 pentraxin 3 gene DOID:9000992 necrotizing soft tissue infection severity ISO RGD:1343528 D RGD:9068941 20200820 RGD protein:decreased expression:plasma (human) PMID:26880104|REF_RGD_ID:38508899 11787580 PTX3 pentraxin 3 gene DOID:9003219 Invasive Pulmonary Aspergillosis ISO RGD:1343528 D RGD:9068941 20200820 RGD protein:increased expression:bronchoalveolar lavage fluid, plasma (human) PMID:29964232|REF_RGD_ID:38508894 11787580 PTX3 pentraxin 3 gene DOID:9003219 Invasive Pulmonary Aspergillosis ISO RGD:1343528 D RGD:9068941 20200820 RGD protein:increased expression:plasma PMID:29020397|REF_RGD_ID:38501098 11787580 PTX3 pentraxin 3 gene DOID:9003219 Invasive Pulmonary Aspergillosis no_association ISO RGD:1343528 D RGD:9068941 20200820 RGD DNA:SNP, missense mutation:intron, cds:rs2305619, rs3816527 PMID:29020397|REF_RGD_ID:38501098 11787580 PTX3 pentraxin 3 gene DOID:9003219 Invasive Pulmonary Aspergillosis susceptibility ISO RGD:1343528 D RGD:9068941 20200820 RGD DNA:SNP:intron:rs1840680 (human) PMID:29020397|REF_RGD_ID:38501098 11787580 PTX3 pentraxin 3 gene DOID:9006058 Invasive Fungal Infections severity ISO RGD:1343528 D RGD:9068941 20200820 RGD DNA:SNPs:intron:rs2305619, rs1840680 (human) PMID:30275011|REF_RGD_ID:38501097 11787580 PTX3 pentraxin 3 gene DOID:9007417 Pseudomonas Infections susceptibility ISO RGD:1343528 D RGD:9068941 20200716 RGD associated with cystic fibrosis; DNA:SNPs, haplotypes:cds:rs35948036,rs2305619,rs1840680,rs3816527(human) PMID:20927127|REF_RGD_ID:35673347 11787580 PTX3 pentraxin 3 gene DOID:9007964 Arsenic Poisoning ISO RGD:1343528 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11787580 PTX3 pentraxin 3 gene DOID:9008212 Diabetic Foot ISO RGD:1343528 D RGD:9068941 20200820 RGD protein:decreased expression:plasma (human) PMID:30767386|REF_RGD_ID:38501100 11787587 PARVG parvin gamma gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1322037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11787587 PARVG parvin gamma gene DOID:1059 intellectual disability ISO RGD:1322037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11787587 PARVG parvin gamma gene DOID:630 genetic disease ISO RGD:1322037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787605 TADA2A transcriptional adaptor 2A gene DOID:0060041 autism spectrum disorder ISO RGD:1320582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 11787605 TADA2A transcriptional adaptor 2A gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1320582 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 11787605 TADA2A transcriptional adaptor 2A gene DOID:12849 autistic disorder ISO RGD:1320582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11787605 TADA2A transcriptional adaptor 2A gene DOID:5419 schizophrenia ISO RGD:1320582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11787605 TADA2A transcriptional adaptor 2A gene DOID:630 genetic disease ISO RGD:1320582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787605 TADA2A transcriptional adaptor 2A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11787605 TADA2A transcriptional adaptor 2A gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:1320582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 11787646 HIP1R huntingtin interacting protein 1 related gene DOID:0060224 atrial fibrillation ISO RGD:733372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11787646 HIP1R huntingtin interacting protein 1 related gene DOID:630 genetic disease ISO RGD:733372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787689 SLC10A6 solute carrier family 10 member 6 gene DOID:630 genetic disease ISO RGD:1604951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787689 SLC10A6 solute carrier family 10 member 6 gene DOID:9008939 Breast Neoplasms ISO RGD:1604951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30186172 11787699 DLG3 discs large MAGUK scaffold protein 3 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:68629 D RGD:9068941 20220825 MouseDO OMIM:300046 | OMIM:300047 | OMIM:300062 | OMIM:300114 | OMIM:300115 | OMIM:300143 | OMIM:300210 | OMIM:300271 | OMIM:300324 | OMIM:300355 | OMIM:300372 | OMIM:300387 | OMIM:300428 | OMIM:300433 | OMIM:300436 | OMIM:300454 | OMIM:300498 | OMIM:300504 | OMIM:300505 | OMIM:300518 | OMIM:300558 | OMIM:300577 | OMIM:300659 | OMIM:300716 | OMIM:300802 | OMIM:300803 | OMIM:300844 | OMIM:300848 | OMIM:300849 | OMIM:300850 | OMIM:300851 | OMIM:300852 | OMIM:300912 | OMIM:300919 | OMIM:300923 | OMIM:309530 | OMIM:309549 11787699 DLG3 discs large MAGUK scaffold protein 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:68628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11787699 DLG3 discs large MAGUK scaffold protein 3 gene DOID:0112041 non-syndromic X-linked intellectual disability 90 ISO RGD:68628 D RGD:7240710 20180130 OMIM 11787699 DLG3 discs large MAGUK scaffold protein 3 gene DOID:0112041 non-syndromic X-linked intellectual disability 90 ISO RGD:68628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DLG3-Related Disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 90 PMID:15185169|PMID:23020937|PMID:24721225|PMID:25741868|PMID:28554332 11787699 DLG3 discs large MAGUK scaffold protein 3 gene DOID:1059 intellectual disability ISO RGD:68628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability | ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:31690835 11787699 DLG3 discs large MAGUK scaffold protein 3 gene DOID:12849 autistic disorder ISO RGD:68628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11787699 DLG3 discs large MAGUK scaffold protein 3 gene DOID:1826 epilepsy ISO RGD:68628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure 11787699 DLG3 discs large MAGUK scaffold protein 3 gene DOID:630 genetic disease ISO RGD:68628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532|PMID:28554332 11787699 DLG3 discs large MAGUK scaffold protein 3 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:68628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15185169 11787699 DLG3 discs large MAGUK scaffold protein 3 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:68628 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:15185169|REF_RGD_ID:1300392 11787742 CRBN cereblon gene DOID:0060308 autosomal recessive intellectual developmental disorder ISO RGD:1551562 D RGD:9068941 20220825 MouseDO OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 11787742 CRBN cereblon gene DOID:0081178 autosomal recessive intellectual developmental disorder 2 ISO RGD:1321492 D RGD:7240710 20180130 OMIM 11787742 CRBN cereblon gene DOID:0081178 autosomal recessive intellectual developmental disorder 2 ISO RGD:1321492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 2 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2A PMID:10932263|PMID:15557513|PMID:18414213|PMID:18414909|PMID:23983124|PMID:24088041|PMID:24993823|PMID:25741868|PMID:26633545|PMID:28143899|PMID:28492532 11787742 CRBN cereblon gene DOID:1059 intellectual disability ISO RGD:1321492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11787742 CRBN cereblon gene DOID:630 genetic disease ISO RGD:1321492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11787742 CRBN cereblon gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11787742 CRBN cereblon gene DOID:9006534 Nervous System Malformations ISO RGD:1321492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27751757 11787742 CRBN cereblon gene DOID:9007828 Abnormalities, Drug-Induced ISO RGD:1321492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27751757 11787742 CRBN cereblon gene DOID:9538 multiple myeloma ISO RGD:1321492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11787761 REELD1 reeler domain containing 1 gene DOID:0080600 COVID-19 ISO RGD:13208696 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11787772 TSG101 tumor susceptibility 101 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1349732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 11787772 TSG101 tumor susceptibility 101 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1349732 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 11787772 TSG101 tumor susceptibility 101 gene DOID:10283 prostate cancer ISO RGD:1349732 D RGD:9068941 20200609 RGD mRNA:alternative forms:cds:multiple PMID:9444960|REF_RGD_ID:2291856 11787772 TSG101 tumor susceptibility 101 gene DOID:1059 intellectual disability ISO RGD:1349732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11787772 TSG101 tumor susceptibility 101 gene DOID:1612 breast cancer ISO RGD:1349732 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17369844|REF_RGD_ID:2291847 11787772 TSG101 tumor susceptibility 101 gene DOID:1612 breast cancer disease_progression ISO RGD:1349732 D RGD:9068941 20200609 RGD DNA:deletion: :154_1054del PMID:10930114|REF_RGD_ID:2291848 11787772 TSG101 tumor susceptibility 101 gene DOID:1612 breast cancer severity ISO RGD:1349732 D RGD:9068941 20200609 RGD mRNA:alternative forms:breast PMID:10618725|REF_RGD_ID:2291849 11787772 TSG101 tumor susceptibility 101 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1349732 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:17606716|REF_RGD_ID:2298534 11787772 TSG101 tumor susceptibility 101 gene DOID:2870 endometrial adenocarcinoma ISO RGD:1349732 D RGD:9068941 20200609 RGD mRNA:alternative forms PMID:10027311|REF_RGD_ID:2291854 11787772 TSG101 tumor susceptibility 101 gene DOID:2893 cervix carcinoma ISO RGD:1349732 D RGD:9068941 20200609 RGD mRNA:alternative form:uterine cervix PMID:10600297|REF_RGD_ID:2291851 11787772 TSG101 tumor susceptibility 101 gene DOID:2893 cervix carcinoma ISO RGD:1349732 D RGD:9068941 20200609 RGD mRNA:alternative forms:uterine cervix:multiple PMID:10505033|REF_RGD_ID:2291852 11787772 TSG101 tumor susceptibility 101 gene DOID:3459 breast carcinoma susceptibility ISO RGD:1349732 D RGD:9068941 20200609 RGD DNA:deletions PMID:9019400|REF_RGD_ID:1600429 11787772 TSG101 tumor susceptibility 101 gene DOID:630 genetic disease ISO RGD:1349732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787772 TSG101 tumor susceptibility 101 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1349732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:9019400 11787789 CCNT1 cyclin T1 gene DOID:6000 congestive heart failure ISO RGD:1322458 D RGD:9068941 20200609 RGD PMID:15297879|REF_RGD_ID:1556509 11787789 CCNT1 cyclin T1 gene DOID:630 genetic disease ISO RGD:1322457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787789 CCNT1 cyclin T1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1311151 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver: PMID:20828602|REF_RGD_ID:9698426 11787805 RABGAP1 RAB GTPase activating protein 1 gene DOID:630 genetic disease ISO RGD:1312283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787835 LRCOL1 leucine rich colipase like 1 gene DOID:630 genetic disease ISO RGD:6770658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787835 LRCOL1 leucine rich colipase like 1 gene DOID:9256 colorectal cancer ISO RGD:6770658 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 11787845 SF3B2 splicing factor 3b subunit 2 gene DOID:0050902 medulloblastoma ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:26619011 11787845 SF3B2 splicing factor 3b subunit 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:26619011 11787845 SF3B2 splicing factor 3b subunit 2 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 11787845 SF3B2 splicing factor 3b subunit 2 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1316185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:26619011 11787845 SF3B2 splicing factor 3b subunit 2 gene DOID:1059 intellectual disability ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11787845 SF3B2 splicing factor 3b subunit 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1316185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11787845 SF3B2 splicing factor 3b subunit 2 gene DOID:2746 glycogen storage disease V ISO RGD:1316185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11787845 SF3B2 splicing factor 3b subunit 2 gene DOID:2907 Goldenhar syndrome ISO RGD:1316185 D RGD:7240710 20220316 OMIM 11787845 SF3B2 splicing factor 3b subunit 2 gene DOID:2907 Goldenhar syndrome ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniofacial microsomia PMID:34344887|PMID:7811205 11787845 SF3B2 splicing factor 3b subunit 2 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:26619011 11787845 SF3B2 splicing factor 3b subunit 2 gene DOID:4450 renal cell carcinoma ISO RGD:1316185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:26619011 11787845 SF3B2 splicing factor 3b subunit 2 gene DOID:630 genetic disease ISO RGD:1316185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787845 SF3B2 splicing factor 3b subunit 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:26619011 11787845 SF3B2 splicing factor 3b subunit 2 gene DOID:8923 skin melanoma ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:26619011 11787845 SF3B2 splicing factor 3b subunit 2 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:26619011 11787845 SF3B2 splicing factor 3b subunit 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1316185 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11787845 SF3B2 splicing factor 3b subunit 2 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1316185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:26619011 11787845 SF3B2 splicing factor 3b subunit 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1316185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11787845 SF3B2 splicing factor 3b subunit 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:26619011 11787845 SF3B2 splicing factor 3b subunit 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:26619011 11787876 RSRP1 arginine and serine rich protein 1 gene DOID:0050641 Rh deficiency syndrome ISO RGD:1603978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RhD negative 11787876 RSRP1 arginine and serine rich protein 1 gene DOID:4175 Rh isoimmunization ISO RGD:1603978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemolytic disease of fetus OR newborn due to RhD isoimmunization PMID:28639307 11787876 RSRP1 arginine and serine rich protein 1 gene DOID:630 genetic disease ISO RGD:1603978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787876 RSRP1 arginine and serine rich protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11787933 CDH17 cadherin 17 gene DOID:0080820 occupational asthma ISO RGD:733806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25918132 11787933 CDH17 cadherin 17 gene DOID:11372 megacolon ISO RGD:733806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11787933 CDH17 cadherin 17 gene DOID:630 genetic disease ISO RGD:733806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787958 PCDH11X protocadherin 11 X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11787958 PCDH11X protocadherin 11 X-linked gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1353305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:25741868 11787958 PCDH11X protocadherin 11 X-linked gene DOID:10652 Alzheimer's disease ISO RGD:1353305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:29476165 11787958 PCDH11X protocadherin 11 X-linked gene DOID:12849 autistic disorder ISO RGD:1353305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11787958 PCDH11X protocadherin 11 X-linked gene DOID:630 genetic disease ISO RGD:1353305 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11787972 PDRG1 p53 and DNA damage regulated 1 gene DOID:630 genetic disease ISO RGD:1349373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787972 PDRG1 p53 and DNA damage regulated 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1349373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11787981 C1QTNF8 C1q and TNF related 8 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1345449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 11787981 C1QTNF8 C1q and TNF related 8 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1345449 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11787981 C1QTNF8 C1q and TNF related 8 gene DOID:1826 epilepsy ISO RGD:1345449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11787981 C1QTNF8 C1q and TNF related 8 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1345449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11787981 C1QTNF8 C1q and TNF related 8 gene DOID:630 genetic disease ISO RGD:1345449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11787997 ZMAT4 zinc finger matrin-type 4 gene DOID:630 genetic disease ISO RGD:1606216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788018 TESMIN testis expressed metallothionein like protein gene DOID:1059 intellectual disability ISO RGD:1320315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11788018 TESMIN testis expressed metallothionein like protein gene DOID:630 genetic disease ISO RGD:1320315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788018 TESMIN testis expressed metallothionein like protein gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1320315 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11788018 TESMIN testis expressed metallothionein like protein gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1320315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11788040 HEMK1 HemK methyltransferase family member 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 11788040 HEMK1 HemK methyltransferase family member 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 11788040 HEMK1 HemK methyltransferase family member 1 gene DOID:630 genetic disease ISO RGD:1343848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788086 BAHD1 bromo adjacent homology domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1345980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11788086 BAHD1 bromo adjacent homology domain containing 1 gene DOID:630 genetic disease ISO RGD:1345980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788086 BAHD1 bromo adjacent homology domain containing 1 gene DOID:9256 colorectal cancer ISO RGD:1345980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11788103 TMEM53 transmembrane protein 53 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603008 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11788103 TMEM53 transmembrane protein 53 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11788103 TMEM53 transmembrane protein 53 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603008 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11788103 TMEM53 transmembrane protein 53 gene DOID:0112340 craniotubular dysplasia Ikegawa type ISO RGD:1603008 D RGD:7240710 20220309 OMIM 11788103 TMEM53 transmembrane protein 53 gene DOID:0112340 craniotubular dysplasia Ikegawa type ISO RGD:1603008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TMEM53-related craniotubular dysplasia PMID:25741868|PMID:33824347 11788103 TMEM53 transmembrane protein 53 gene DOID:630 genetic disease ISO RGD:1603008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788149 NEPRO nucleolus and neural progenitor protein gene DOID:0080963 anauxetic dysplasia 3 ISO RGD:1352471 D RGD:7240710 20200520 OMIM 11788149 NEPRO nucleolus and neural progenitor protein gene DOID:0080963 anauxetic dysplasia 3 ISO RGD:1352471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia 3 PMID:25741868|PMID:26633546|PMID:29620724|PMID:31250547 11788149 NEPRO nucleolus and neural progenitor protein gene DOID:10907 microcephaly ISO RGD:1352471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11788149 NEPRO nucleolus and neural progenitor protein gene DOID:630 genetic disease ISO RGD:1352471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788168 LIG3 DNA ligase 3 gene DOID:1793 pancreatic cancer resistance ISO RGD:1320452 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs 2074522 (human) PMID:19147782|REF_RGD_ID:2317363 11788168 LIG3 DNA ligase 3 gene DOID:630 genetic disease ISO RGD:1320452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788168 LIG3 DNA ligase 3 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1320452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 11788168 LIG3 DNA ligase 3 gene DOID:9001068 Mitochondrial DNA Depletion Syndrome 20 ISO RGD:1320452 D RGD:7240710 20220330 OMIM 11788168 LIG3 DNA ligase 3 gene DOID:9001068 Mitochondrial DNA Depletion Syndrome 20 ISO RGD:1320452 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 20 (mngie type) PMID:25741868|PMID:33855352|PMID:34165507 11788168 LIG3 DNA ligase 3 gene DOID:9004009 Reperfusion Injury ISO RGD:1309875 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17412650|REF_RGD_ID:2302580 11788168 LIG3 DNA ligase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11788192 RBM41 RNA binding motif protein 41 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1605361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 11788192 RBM41 RNA binding motif protein 41 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11788192 RBM41 RNA binding motif protein 41 gene DOID:12849 autistic disorder ISO RGD:1605361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11788192 RBM41 RNA binding motif protein 41 gene DOID:630 genetic disease ISO RGD:1605361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788222 CCDC96 coiled-coil domain containing 96 gene DOID:4501 orofaciodigital syndrome ISO RGD:1603873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome 11788222 CCDC96 coiled-coil domain containing 96 gene DOID:630 genetic disease ISO RGD:1603873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788228 ANGPT1 angiopoietin 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:733136 D RGD:9068941 20220811 RGD protein:decreased expression:oral mucosa (human) PMID:26044849|REF_RGD_ID:153323290 11788228 ANGPT1 angiopoietin 1 gene DOID:0080940 hereditary angioedema type III ISO RGD:733136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary angioedema, type III PMID:25741868|PMID:28492532 11788228 ANGPT1 angiopoietin 1 gene DOID:10286 prostate carcinoma ISO RGD:733136 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:11326698|REF_RGD_ID:1643336 11788228 ANGPT1 angiopoietin 1 gene DOID:10763 hypertension ISO RGD:733136 D RGD:9068941 20200609 RGD PMID:18285514|REF_RGD_ID:2316068 11788228 ANGPT1 angiopoietin 1 gene DOID:10763 hypertension ISO RGD:733136 D RGD:9068941 20200609 RGD protein:increased expression:plasma, platelet PMID:16942942|REF_RGD_ID:1626157 11788228 ANGPT1 angiopoietin 1 gene DOID:10808 gastric ulcer ISO RGD:628896 D RGD:9068941 20200609 RGD protein:increased expression:stomach PMID:12768384|REF_RGD_ID:1601496 11788228 ANGPT1 angiopoietin 1 gene DOID:2316 brain ischemia ISO RGD:733136 D RGD:9068941 20200609 RGD PMID:17637706|REF_RGD_ID:1643339 11788228 ANGPT1 angiopoietin 1 gene DOID:2394 ovarian cancer ISO RGD:733136 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary PMID:12138242|REF_RGD_ID:2293864 11788228 ANGPT1 angiopoietin 1 gene DOID:2527 nephrosis ISO RGD:628896 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:glomerulus PMID:16626513|REF_RGD_ID:1626164 11788228 ANGPT1 angiopoietin 1 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:733136 D RGD:9068941 20200609 RGD PMID:15517881|REF_RGD_ID:2293863 11788228 ANGPT1 angiopoietin 1 gene DOID:2870 endometrial adenocarcinoma ISO RGD:733136 D RGD:9068941 20200609 RGD protein:increased expression:endometrium epithelium PMID:17295646|REF_RGD_ID:2293852 11788228 ANGPT1 angiopoietin 1 gene DOID:4450 renal cell carcinoma severity ISO RGD:733136 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney PMID:17505508|REF_RGD_ID:1643335 11788228 ANGPT1 angiopoietin 1 gene DOID:5844 myocardial infarction ISO RGD:628896 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:myocardium PMID:15364619|REF_RGD_ID:1626168 11788228 ANGPT1 angiopoietin 1 gene DOID:630 genetic disease ISO RGD:733136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788228 ANGPT1 angiopoietin 1 gene DOID:6432 pulmonary hypertension ISO RGD:628896 D RGD:9068941 20200609 RGD protein:decreased expression:pulmonary artery PMID:18073453|REF_RGD_ID:2316069 11788228 ANGPT1 angiopoietin 1 gene DOID:8719 in situ carcinoma ISO RGD:628896 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Animal;mRNA:increased expression:mammary gland PMID:15459484|REF_RGD_ID:1626167 11788228 ANGPT1 angiopoietin 1 gene DOID:8947 diabetic retinopathy ISO RGD:733136 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:12000720|REF_RGD_ID:2313818 11788228 ANGPT1 angiopoietin 1 gene DOID:9000040 Hypertrophy ISO RGD:733136 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18502941 11788228 ANGPT1 angiopoietin 1 gene DOID:9000165 Neuromuscular Manifestations ISO RGD:733136 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:30476904 11788228 ANGPT1 angiopoietin 1 gene DOID:9000784 Fibrosis ISO RGD:733136 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18480750|PMID:18626492 11788228 ANGPT1 angiopoietin 1 gene DOID:9001573 Experimental Liver Cirrhosis disease_progression ISO RGD:628896 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:17935226|REF_RGD_ID:1643338 11788228 ANGPT1 angiopoietin 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:733136 D RGD:9068941 20200609 RGD PMID:18344375|REF_RGD_ID:2316067 11788228 ANGPT1 angiopoietin 1 gene DOID:9002955 Nerve Degeneration ISO RGD:733136 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:30476904 11788228 ANGPT1 angiopoietin 1 gene DOID:9004009 Reperfusion Injury ISO RGD:733136 D RGD:9068941 20200609 RGD PMID:19885826|REF_RGD_ID:2316041 11788228 ANGPT1 angiopoietin 1 gene DOID:9004484 Sepsis ISO RGD:733136 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16005988 11788228 ANGPT1 angiopoietin 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:628896 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Animal;mRNA:increased expression:mammary gland PMID:15459484|REF_RGD_ID:1626167 11788228 ANGPT1 angiopoietin 1 gene DOID:9005372 Inflammation ISO RGD:733136 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18480750 11788228 ANGPT1 angiopoietin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628896 D RGD:9068941 20200609 RGD PMID:17294737|REF_RGD_ID:1626163 11788228 ANGPT1 angiopoietin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628896 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:15047628|REF_RGD_ID:2313817 11788228 ANGPT1 angiopoietin 1 gene DOID:9007096 Stroke ISO RGD:628896 D RGD:9068941 20200609 RGD PMID:11822892|PMID:17356562|REF_RGD_ID:1626162|REF_RGD_ID:704373 11788228 ANGPT1 angiopoietin 1 gene DOID:9007361 Hereditary Angioedema 5 ISO RGD:733136 D RGD:7240710 20210616 OMIM 11788228 ANGPT1 angiopoietin 1 gene DOID:9007361 Hereditary Angioedema 5 ISO RGD:733136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angioedema, hereditary, 5 PMID:28492532|PMID:28601681|PMID:30689269 11788228 ANGPT1 angiopoietin 1 gene DOID:9007402 Gliosis ISO RGD:733136 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:30476904 11788242 SNRNP25 small nuclear ribonucleoprotein U11/U12 subunit 25 gene DOID:630 genetic disease ISO RGD:1322103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788251 POP7 POP7 homolog, ribonuclease P/MRP subunit gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11788251 POP7 POP7 homolog, ribonuclease P/MRP subunit gene DOID:630 genetic disease ISO RGD:1315010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788260 RAB3IL1 RAB3A interacting protein like 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1354248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11788260 RAB3IL1 RAB3A interacting protein like 1 gene DOID:1059 intellectual disability ISO RGD:1354248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11788260 RAB3IL1 RAB3A interacting protein like 1 gene DOID:630 genetic disease ISO RGD:1354248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:734332 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:11212236|PMID:12202987|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17470566|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18852674|PMID:19006214|PMID:19875893|PMID:19996017|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772377|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24146167|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:25116393|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27100340|PMID:27146836|PMID:27508510|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:29168297|PMID:29543232|PMID:30158670|PMID:32560555|PMID:8246946|PMID:9395234|PMID:9590282|PMID:9771922|PMID:9927040 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:734332 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:11212236|PMID:12202987|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17470566|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18852674|PMID:19006214|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772377|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24146167|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:25116393|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27100340|PMID:27139629|PMID:27146836|PMID:27508510|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:29168297|PMID:29543232|PMID:30158670|PMID:30739908|PMID:32152251|PMID:32560555|PMID:32887874|PMID:8246946|PMID:9395234|PMID:9590282|PMID:9771922|PMID:9927040 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:734332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:11212236|PMID:12202987|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17470566|PMID:17576681|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18852674|PMID:19006214|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20628007|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21270064|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772377|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24146167|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:25116393|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27100340|PMID:27139629|PMID:27146836|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:28991257|PMID:29168297|PMID:29543232|PMID:29907982|PMID:30158670|PMID:30739908|PMID:32152251|PMID:32560555|PMID:32887874|PMID:8246946|PMID:9395234|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0060320 inguinal hernia ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16885183 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:734332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 2 PMID:25326637|PMID:25741868 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:734332 D RGD:7240710 20180130 OMIM 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:734332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16333834|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20358619|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27100340|PMID:27508510|PMID:27879313|PMID:27930701|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30158670|PMID:30341550|PMID:34008892|PMID:8246946|PMID:8317497|PMID:9590282|PMID:9771922|PMID:9927040 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:734332 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16333834|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19816028|PMID:19875893|PMID:19996017|PMID:20358619|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:27100340|PMID:27508510|PMID:27879313|PMID:27930701|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30158670|PMID:30341550|PMID:31769227|PMID:32528524|PMID:33726816|PMID:34008892|PMID:35535697|PMID:8246946|PMID:8317497|PMID:9590282|PMID:9771922|PMID:9927040 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:734332 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16333834|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19816028|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20358619|PMID:20628007|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21324918|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26877057|PMID:27100340|PMID:27112580|PMID:27139629|PMID:27508510|PMID:27879313|PMID:27930701|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675401|PMID:31098894|PMID:31769227|PMID:32420711|PMID:32528524|PMID:33083483|PMID:33726816|PMID:34008892|PMID:35535697|PMID:8246946|PMID:8317497|PMID:9590282|PMID:9771922|PMID:9927040 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:734332 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16333834|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19816028|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20358619|PMID:20628007|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21324918|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772368|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25786579|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26877057|PMID:27100340|PMID:27112580|PMID:27139629|PMID:27508510|PMID:27879313|PMID:27930701|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675401|PMID:31098894|PMID:31769227|PMID:32420711|PMID:32528524|PMID:33083483|PMID:33726816|PMID:34008892|PMID:35535697|PMID:8246946|PMID:8317497|PMID:9590282|PMID:9771922|PMID:9927040 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:734332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16333834|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19816028|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20358619|PMID:20628007|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21324918|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772368|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26848186|PMID:26877057|PMID:27100340|PMID:27112580|PMID:27139629|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:28679693|PMID:28991257|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675401|PMID:31098894|PMID:31769227|PMID:32420711|PMID:32528524|PMID:33083483|PMID:33726816|PMID:33824467|PMID:34008892|PMID:35535697|PMID:8246946|PMID:8317497|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:734332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16333834|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19816028|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20358619|PMID:20628007|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21270064|PMID:21324918|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772368|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26848186|PMID:26877057|PMID:27100340|PMID:27112580|PMID:27139629|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:28679693|PMID:28991257|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675401|PMID:31098894|PMID:31769227|PMID:32420711|PMID:32528524|PMID:32897753|PMID:33083483|PMID:33726816|PMID:33824467|PMID:34008892|PMID:35535697|PMID:8246946|PMID:8317497|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0070235 Loeys-Dietz syndrome 1 ISO RGD:734332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 PMID:16251899|PMID:16928994|PMID:18781618|PMID:18852674|PMID:19006214|PMID:21484991|PMID:22095581|PMID:22113417|PMID:22259224|PMID:23884466|PMID:24792536|PMID:25637381|PMID:25741868|PMID:28492532|PMID:30739908|PMID:32152251 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0070273 hereditary nonpolyposis colorectal cancer type 6 ISO RGD:734332 D RGD:7240710 20180130 OMIM 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0070273 hereditary nonpolyposis colorectal cancer type 6 ISO RGD:734332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: COLON CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6 | ClinVar Annotator: match by term: Colon cancer, hereditary nonpolyposis, type 6 | ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 6 PMID:11212236|PMID:12202987|PMID:12825850|PMID:15731757|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17344846|PMID:17576681|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:19533785|PMID:19996017|PMID:20956634|PMID:21267002|PMID:21270064|PMID:21524434|PMID:22113417|PMID:22488992|PMID:23103230|PMID:23228659|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24941995|PMID:25116393|PMID:25741868|PMID:25944730|PMID:26017485|PMID:27139629|PMID:27879313|PMID:27930701|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:30341550|PMID:32528524|PMID:32897753|PMID:9536098|PMID:9590282|PMID:9927040 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0080001 bone disease ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20358619 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0110214 cleft soft palate ISO RGD:734333 D RGD:9068941 20220825 MouseDO OMIM:119570 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:734332 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:10283 prostate cancer ISO RGD:734333 D RGD:9068941 20220825 MouseDO OMIM:176807 | OMIM:300147 | OMIM:300704 | OMIM:601518 | OMIM:602759 | OMIM:608656 | OMIM:608658 | OMIM:609299 | OMIM:609558 | OMIM:610321 | OMIM:610997 | OMIM:611100 | OMIM:611868 | OMIM:611928 | OMIM:611955 | OMIM:611958 | OMIM:611959 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:11198 DiGeorge syndrome ISO RGD:734333 D RGD:9068941 20220825 MouseDO OMIM:188400 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:734332 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:11212236|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17344846|PMID:17935258|PMID:18781618|PMID:21251594|PMID:21524434|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24941995|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27930701|PMID:28492532|PMID:32560555|PMID:8246946|PMID:9395234|PMID:9590282 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:734332 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10789724|PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17599521|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18339844|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20829218|PMID:20838339|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21324918|PMID:21524434|PMID:21949523|PMID:22001912|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22734312|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:25116393|PMID:25203624|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25925954|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26848186|PMID:27017362|PMID:27100340|PMID:27112580|PMID:27139629|PMID:27146836|PMID:27508510|PMID:27879313|PMID:27930701|PMID:28166811|PMID:28225382|PMID:28492532|PMID:28659821|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30158670|PMID:30341550|PMID:30675029|PMID:31769227|PMID:32560555|PMID:33726816|PMID:35535697|PMID:7664267|PMID:7862150|PMID:8246946|PMID:9395234|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:734332 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10789724|PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15299527|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17599521|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18339844|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20628007|PMID:20829218|PMID:20838339|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21270064|PMID:21324918|PMID:21484991|PMID:21524434|PMID:21949523|PMID:22001912|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22734312|PMID:22772368|PMID:22772377|PMID:23099432|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25786579|PMID:25925954|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26848186|PMID:26877057|PMID:27017362|PMID:27100340|PMID:27112580|PMID:27125181|PMID:27139629|PMID:27146836|PMID:27508510|PMID:27879313|PMID:27930701|PMID:28166811|PMID:28225382|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:29768367|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675029|PMID:30675401|PMID:30739908|PMID:31098894|PMID:31769227|PMID:32152251|PMID:32420711|PMID:32528524|PMID:32560555|PMID:32887874|PMID:33083483|PMID:33726816|PMID:35535697|PMID:7664267|PMID:7862150|PMID:8246946|PMID:8555189|PMID:9395234|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:734332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10789724|PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15299527|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17599521|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18339844|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20358619|PMID:20628007|PMID:20681224|PMID:20829218|PMID:20838339|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21270064|PMID:21324918|PMID:21484991|PMID:21524434|PMID:21949523|PMID:22001912|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22563345|PMID:22734312|PMID:22772368|PMID:22772377|PMID:23099432|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24146167|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25925954|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26301661|PMID:26848186|PMID:26877057|PMID:27017362|PMID:27100340|PMID:27112580|PMID:27125181|PMID:27139629|PMID:27146836|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:29768367|PMID:29907982|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675029|PMID:30675401|PMID:30739908|PMID:31098894|PMID:31769227|PMID:31915033|PMID:32152251|PMID:32420711|PMID:32528524|PMID:32560555|PMID:32887874|PMID:33083483|PMID:33726816|PMID:33824467|PMID:34422331|PMID:35535697|PMID:36007983|PMID:7664267|PMID:7862150|PMID:8246946|PMID:8555189|PMID:9395234|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:734332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10789724|PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15299527|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17599521|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18339844|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20358619|PMID:20628007|PMID:20681224|PMID:20829218|PMID:20838339|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21270064|PMID:21324918|PMID:21484991|PMID:21524434|PMID:21949523|PMID:22001912|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22563345|PMID:22734312|PMID:22772368|PMID:22772377|PMID:23099432|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24146167|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326637|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25741868|PMID:25925954|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26301661|PMID:26848186|PMID:26877057|PMID:27017362|PMID:27100340|PMID:27112580|PMID:27125181|PMID:27139629|PMID:27146836|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:29768367|PMID:29907982|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675029|PMID:30675401|PMID:30739908|PMID:31098894|PMID:31769227|PMID:31915033|PMID:32152251|PMID:32420711|PMID:32528524|PMID:32560555|PMID:32887874|PMID:33083483|PMID:33726816|PMID:33824467|PMID:34422331|PMID:35535697|PMID:36007983|PMID:7664267|PMID:7862150|PMID:8246946|PMID:8555189|PMID:9395234|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:734332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10789724|PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15299527|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17599521|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18339844|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20358619|PMID:20628007|PMID:20681224|PMID:20829218|PMID:20838339|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21270064|PMID:21324918|PMID:21484991|PMID:21524434|PMID:21949523|PMID:22001912|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22563345|PMID:22734312|PMID:22772368|PMID:22772377|PMID:23099432|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24146167|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326637|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25741868|PMID:25925954|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26301661|PMID:26848186|PMID:26877057|PMID:27017362|PMID:27100340|PMID:27112580|PMID:27125181|PMID:27139629|PMID:27146836|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:29768367|PMID:29907982|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675029|PMID:30675401|PMID:30739908|PMID:31098894|PMID:31769227|PMID:31915033|PMID:32152251|PMID:32420711|PMID:32528524|PMID:32560555|PMID:32887874|PMID:32897753|PMID:33083483|PMID:33726816|PMID:33824467|PMID:34422331|PMID:35535697|PMID:36007983|PMID:7664267|PMID:7862150|PMID:8246946|PMID:8555189|PMID:9395234|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:14323 Marfan syndrome ISO RGD:734332 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan's syndrome PMID:11212236|PMID:12825850|PMID:16249459|PMID:16251899|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17344846|PMID:17345643|PMID:17470566|PMID:17935258|PMID:18781618|PMID:18852674|PMID:19006214|PMID:19875893|PMID:21251594|PMID:21524434|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24941995|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27930701|PMID:28492532|PMID:30158670|PMID:30739908|PMID:32152251|PMID:8246946|PMID:9395234|PMID:9590282|PMID:9771922 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:14323 Marfan syndrome ISO RGD:734332 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:11212236|PMID:12825850|PMID:16249459|PMID:16251899|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17344846|PMID:17345643|PMID:17470566|PMID:17935258|PMID:18781618|PMID:18852674|PMID:19006214|PMID:19875893|PMID:21251594|PMID:21524434|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24941995|PMID:25203624|PMID:25637381|PMID:25741868|PMID:25786579|PMID:26017485|PMID:26133393|PMID:27930701|PMID:28492532|PMID:30158670|PMID:30739908|PMID:32152251|PMID:8246946|PMID:9395234|PMID:9590282|PMID:9771922 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:14323 Marfan syndrome ISO RGD:734332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:11212236|PMID:12825850|PMID:16249459|PMID:16251899|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17344846|PMID:17345643|PMID:17470566|PMID:17935258|PMID:18781618|PMID:18852674|PMID:19006214|PMID:19875893|PMID:21251594|PMID:21524434|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24941995|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27930701|PMID:28492532|PMID:29907982|PMID:30158670|PMID:30739908|PMID:32152251|PMID:8246946|PMID:9395234|PMID:9590282|PMID:9771922 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:14323 Marfan syndrome susceptibility ISO RGD:734332 D RGD:9068941 20200609 RGD DNA:point mutation, missense mutations: :multiple PMID:15235604|REF_RGD_ID:1579928 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:1793 pancreatic cancer ISO RGD:734332 D RGD:9068941 20200609 RGD DNA:deletion, frameshift mutations (human) PMID:9850059|REF_RGD_ID:2317501 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:1793 pancreatic cancer ISO RGD:734332 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:18772397|REF_RGD_ID:5490966 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:1793 pancreatic cancer ISO RGD:734332 D RGD:9068941 20200609 RGD protein:increased expresssion:pancreas PMID:11866987|REF_RGD_ID:2317499 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:734332 D RGD:9068941 20200609 RGD mRNA:increased expresssion:pancreas PMID:9365135|REF_RGD_ID:2317502 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:219 colon cancer ISO RGD:734332 D RGD:9068941 20200609 RGD DNA:mutation:polyadenine tract PMID:14988818|REF_RGD_ID:2301065 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:2349 arteriosclerosis ISO RGD:734332 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:16733295|REF_RGD_ID:1580959 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:69651 D RGD:9068941 20200609 RGD PMID:11703592|REF_RGD_ID:1601601 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:305 carcinoma ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10789724 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:734333 D RGD:9068941 20200609 RGD PMID:17114585|REF_RGD_ID:2317498 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:734332 D RGD:9068941 20200609 RGD mRNA:increased expresssion:pancreas PMID:10547197|REF_RGD_ID:2317500 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:3627 aortic aneurysm ISO RGD:734332 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ascending aortic dilation PMID:16791849|PMID:17061023|PMID:18781618|PMID:24033266|PMID:24793577|PMID:25741868|PMID:28492532|PMID:32560555 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:69651 D RGD:9068941 20200609 RGD PMID:17077588|REF_RGD_ID:1601591 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:734332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:18781618|PMID:27879313|PMID:28492532 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:3883 Lynch syndrome ISO RGD:734332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lynch syndrome PMID:25741868|PMID:28492532|PMID:28659821 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:4762 vasculogenic impotence ISO RGD:734332 D RGD:9068941 20200609 RGD protein:increased expression:penis erectile tissue PMID:14718046|REF_RGD_ID:1601627 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:4947 cholangiocarcinoma ISO RGD:69651 D RGD:9068941 20200609 RGD mRNA:increased expression:bile duct PMID:12632524|REF_RGD_ID:1299231 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:5041 esophageal cancer ISO RGD:734332 D RGD:7240710 20180418 OMIM 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:5041 esophageal cancer ISO RGD:734332 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Esophagus cancer PMID:10789724|PMID:11212236|PMID:12202987|PMID:12825850|PMID:15731757|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17344846|PMID:17576681|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18339844|PMID:18781618|PMID:19533785|PMID:20358619|PMID:21267002|PMID:21270064|PMID:21524434|PMID:22113417|PMID:23228659|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24941995|PMID:25741868|PMID:25944730|PMID:26017485|PMID:27139629|PMID:27879313|PMID:27930701|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:30341550|PMID:32528524|PMID:32897753|PMID:7664267|PMID:9536098 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:557 kidney disease ISO RGD:69651 D RGD:9068941 20200609 RGD chronic nephrotoxicity;mRNA, protein:increased expression:kidney PMID:16980036|REF_RGD_ID:1601593 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:5844 myocardial infarction ISO RGD:69651 D RGD:9068941 20200609 RGD protein:increased expression:myocardium PMID:10198196|REF_RGD_ID:1601617 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:630 genetic disease ISO RGD:734332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15731757|PMID:16928994|PMID:18852674|PMID:20628007|PMID:22772377|PMID:23884466|PMID:25741868|PMID:27139629|PMID:27879313|PMID:28182693|PMID:28344185|PMID:28492532|PMID:28991257 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:6364 migraine ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16885183 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:6432 pulmonary hypertension ISO RGD:69651 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:17392319|REF_RGD_ID:1601116 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:65 connective tissue disease ISO RGD:734332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Connective tissue disease PMID:15235604|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17061023|PMID:17344846|PMID:18781618|PMID:19996017|PMID:24033266|PMID:24793577|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26133393|PMID:27100340|PMID:27879313|PMID:28225382|PMID:28492532|PMID:29543232|PMID:8246946|PMID:9395234 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:69651 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:14585397|REF_RGD_ID:1601598 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:687 hepatoblastoma ISO RGD:734332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9000027 Microsatellite Instability ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956|PMID:7761852 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9000111 Radiation Injuries ISO RGD:69651 D RGD:9068941 20200609 RGD PMID:12957270|REF_RGD_ID:1601599 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10789724 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16489006 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:734332 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:12808151|REF_RGD_ID:737735 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69651 D RGD:9068941 20200609 RGD PMID:16627068|REF_RGD_ID:1579923 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15942678|PMID:16627068 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:69651 D RGD:9068941 20220331 RGD PMID:30346985|REF_RGD_ID:151665755 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496156 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9002221 Hyperplasia ISO RGD:69651 D RGD:9068941 20200609 RGD mRNA:increased expression:bile duct, duct epithelial cell PMID:12632524|REF_RGD_ID:1299231 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18381416 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9002457 Experimental Arthritis ISO RGD:69651 D RGD:9068941 20200609 RGD protein:increased expression:synovium PMID:9010265|REF_RGD_ID:1601623 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9002589 Bone Fractures ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20358619 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7761852 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9004009 Reperfusion Injury ISO RGD:69651 D RGD:9068941 20200609 RGD PMID:15613744|REF_RGD_ID:1579926 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9004039 Marfan Syndrome Type 2 ISO RGD:734332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Marfan Syndrome type 2 | ClinVar Annotator: match by term: Marfan like connective tissue disorder PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20628007|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21270064|PMID:21324918|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772368|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26848186|PMID:26877057|PMID:27100340|PMID:27112580|PMID:27139629|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28225382|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675401|PMID:31098894|PMID:31769227|PMID:32420711|PMID:32528524|PMID:32897753|PMID:33083483|PMID:33726816|PMID:33824467|PMID:35535697|PMID:8246946|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:734332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:11212236|PMID:12825850|PMID:16249459|PMID:16251899|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17344846|PMID:17345643|PMID:17470566|PMID:17935258|PMID:18781618|PMID:18852674|PMID:19006214|PMID:19875893|PMID:21251594|PMID:21524434|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24941995|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27930701|PMID:28492532|PMID:29907982|PMID:30158670|PMID:30739908|PMID:32152251|PMID:8246946|PMID:9395234|PMID:9590282|PMID:9771922 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9004389 Bone Neoplasms ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16489006 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9005172 Lung Neoplasms ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11074608 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734332 D RGD:9068941 20200609 RGD PMID:12808151|REF_RGD_ID:737735 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9006045 Dissecting Aneurysm ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16027248|PMID:16885183 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9006193 Loeys-Dietz Syndrome, Type 1b ISO RGD:734332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20628007|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21270064|PMID:21324918|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772368|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26848186|PMID:26877057|PMID:27100340|PMID:27112580|PMID:27139629|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28225382|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675401|PMID:31098894|PMID:31769227|PMID:32420711|PMID:32528524|PMID:32897753|PMID:33083483|PMID:33726816|PMID:33824467|PMID:35535697|PMID:8246946|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9006617 Fatigue ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16885183 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9007502 Brain Neoplasms ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9008296 Eye Abnormalities ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16885183 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:734332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: AAT1 PMID:11212236|PMID:16791849|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17344846|PMID:17935258|PMID:18781618|PMID:21270064|PMID:21524434|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24941995|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27930701|PMID:28492532|PMID:8246946 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16368934|PMID:16885183 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9256 colorectal cancer ISO RGD:734332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:25741868|PMID:28492532|PMID:9590282 11788277 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69651 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:11947899|REF_RGD_ID:1601600 11788298 SENP7 SUMO specific peptidase 7 gene DOID:630 genetic disease ISO RGD:1313579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788354 MMRN1 multimerin 1 gene DOID:630 genetic disease ISO RGD:1352887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788367 ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif 20 gene DOID:1909 melanoma ISO RGD:1317084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21559390 11788367 ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif 20 gene DOID:630 genetic disease ISO RGD:1317084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788367 ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif 20 gene DOID:9296 cleft lip ISO RGD:12133751 D RGD:9068941 20230511 OMIA Cleft lip with or without cleft palate, ADAMTS20-related PMID:13875838|PMID:25798845|PMID:28738009|PMID:28887848|PMID:34838248 11788412 SULT1C2 sulfotransferase family 1C member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1314184 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11788412 SULT1C2 sulfotransferase family 1C member 2 gene DOID:0111201 distal hereditary motor neuronopathy type 7A ISO RGD:1314184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A PMID:28492532 11788412 SULT1C2 sulfotransferase family 1C member 2 gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1314184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant PMID:10431241|PMID:10431242|PMID:18854857|PMID:20979233|PMID:28492532|PMID:28981473 11788412 SULT1C2 sulfotransferase family 1C member 2 gene DOID:630 genetic disease ISO RGD:1314184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788412 SULT1C2 sulfotransferase family 1C member 2 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1314184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:28492532 11788430 LOC100987487 general transcription factor IIH subunit 2 gene DOID:13938 amenorrhea ISO RGD:2302830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11788430 LOC100987487 general transcription factor IIH subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2302830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28202706|PMID:28379373|PMID:28492532|PMID:29068549|PMID:30795902 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:735777 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Macrocephaly and epileptic encephalopathy PMID:17347258|PMID:19589774|PMID:26633542|PMID:28492532 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0050562 West syndrome ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: West syndrome PMID:14504318|PMID:18930999|PMID:19563458|PMID:20452746|PMID:22848613|PMID:25741868|PMID:28492532 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15277629|PMID:15508916|PMID:15694566|PMID:15805193|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17129991|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17679682|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:1868258|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19289736|PMID:19303743|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563349|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19763161|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23086956|PMID:23103419|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24472396|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25459969|PMID:25492405|PMID:25524840|PMID:25576396|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26252084|PMID:26311622|PMID:26314341|PMID:26339958|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27652284|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28492532|PMID:28525652|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28794249|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29186148|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30558019|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30805006|PMID:30868114|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31069529|PMID:31302675|PMID:31439038|PMID:31487502|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32238909|PMID:32538476|PMID:32573669 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:32581296|PMID:32581362|PMID:9126059|PMID:9536098 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15277629|PMID:15508916|PMID:15694566|PMID:15805193|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17129991|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17679682|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:1868258|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19289736|PMID:19303743|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19763161|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23086956|PMID:23103419|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24472396|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25459969|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25576396|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26252084|PMID:26311622|PMID:26314341|PMID:26339958|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27652284|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28492532|PMID:28525652|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28794249|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29186148|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30558019|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30805006|PMID:30868114|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31069529|PMID:31302675|PMID:31439038|PMID:31487502|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32238909 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:9126059|PMID:9536098 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:15805193|PMID:16199547|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19289736|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20110217|PMID:20117752|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25576396|PMID:25590135|PMID:25741868|PMID:25885068|PMID:25986186|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26236192|PMID:26314341|PMID:26339958|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26699486|PMID:26763045|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28192756|PMID:28202706|PMID:28356460|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28525652|PMID:28708303|PMID:28794249|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29145747|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30805006|PMID:30868114|PMID:31001185|PMID:31031587|PMID:31069529|PMID:31487502|PMID:31730442|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32238909|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:33391346|PMID:9126059|PMID:9536098 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11756608|PMID:11823106|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15277629|PMID:15508916|PMID:15694566|PMID:15805193|PMID:15880351|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17129991|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17679682|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18251839|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:18621678|PMID:18632234|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19220312|PMID:19236456|PMID:19289736|PMID:19303743|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19763161|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20301562|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21488303|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22028529|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22525008|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22944210|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23032131|PMID:23086956|PMID:23103419|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23485646|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24472396|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25108116|PMID:25206388|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25459969|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25569746|PMID:25576396|PMID:25590135|PMID:25640679|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25795284|PMID:25818041|PMID:25885068|PMID:25986186|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26236192|PMID:26311622|PMID:26314341|PMID:26339958|PMID:26394714|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26680202|PMID:26699486|PMID:26716362|PMID:26763045|PMID:26845707|PMID:26863999|PMID:26934580|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27458797|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27652284|PMID:27734276|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28356460|PMID:28379373|PMID:28387369|PMID:28469861|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28518218|PMID:28525652|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28735751|PMID:28794249|PMID:28837158|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29095814|PMID:29100083|PMID:29141279 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:29142202|PMID:29145747|PMID:29186148|PMID:29188601|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29573403|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:29930392|PMID:29948376|PMID:30011152|PMID:30034362|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30558019|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30795902|PMID:30805006|PMID:30868114|PMID:30945278|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31031587|PMID:31069529|PMID:31164858|PMID:31175295|PMID:31273778|PMID:31302675|PMID:31439038|PMID:31487502|PMID:31618753|PMID:31677916|PMID:31720899|PMID:31730442|PMID:31755124|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:31875159|PMID:31880072|PMID:32056211|PMID:32090326|PMID:32238909|PMID:32276107|PMID:32461654|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:32613771|PMID:32702657|PMID:33278787|PMID:33391346|PMID:33674996|PMID:33895391|PMID:34015165|PMID:34055682|PMID:34338318|PMID:34379890|PMID:34489640|PMID:34539730|PMID:9126059|PMID:9536098|PMID:9573403 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11756608|PMID:11823106|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15133511|PMID:15277629|PMID:15508916|PMID:15694566|PMID:15805193|PMID:15880351|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17129991|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17679682|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18251839|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:18566737|PMID:18621678|PMID:18632234|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19220312|PMID:19236456|PMID:19289736|PMID:19303743|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19763161|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20301562|PMID:20307669|PMID:20358599|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21488303|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22028529|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22525008|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22944210|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23032131|PMID:23086956|PMID:23103419|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23485646|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24472396|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25108116|PMID:25206388|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25459969|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25569746|PMID:25576396|PMID:25590135|PMID:25640679|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25795284|PMID:25818041|PMID:25885068|PMID:25986186|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26236192|PMID:26311622|PMID:26314341|PMID:26339958|PMID:26394714|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26680202|PMID:26699486|PMID:26716362|PMID:26763045|PMID:26845707|PMID:26863999|PMID:26934580|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27458797|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27652284|PMID:27734276|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28356460|PMID:28379373|PMID:28387369|PMID:28469861|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28518218|PMID:28525652|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28735751|PMID:28794249|PMID:28837158|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:29095814|PMID:29100083|PMID:29141279|PMID:29141311|PMID:29142202|PMID:29145747|PMID:29186148|PMID:29188601|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29573403|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:29930392|PMID:29948376|PMID:30011152|PMID:30034362|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30558019|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30795902|PMID:30805006|PMID:30868114|PMID:30945278|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31031587|PMID:31069529|PMID:31164858|PMID:31175295|PMID:31273778|PMID:31302675|PMID:31439038|PMID:31487502|PMID:31618753|PMID:31677916|PMID:31720899|PMID:31730442|PMID:31755124|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:31875159|PMID:31880072|PMID:32056211|PMID:32090326|PMID:32238909|PMID:32276107|PMID:32461654|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:32613771|PMID:32702657|PMID:33278787|PMID:33391346|PMID:33674996|PMID:33895391|PMID:34015165|PMID:34055682|PMID:34338318|PMID:34379890|PMID:34489640|PMID:34539730|PMID:9126059|PMID:9536098|PMID:9573403 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0060041 autism spectrum disorder ISO RGD:735777 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21572417 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0060041 autism spectrum disorder ISO RGD:735778 D RGD:9068941 20220825 MouseDO 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0060170 generalized epilepsy with febrile seizures plus ISO RGD:735777 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus PMID:24337656|PMID:25741868|PMID:26467025|PMID:27781031|PMID:28492532|PMID:32090326|PMID:32427350 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0060178 familial hemiplegic migraine ISO RGD:735777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:18621678|PMID:19220312|PMID:20301562|PMID:25741868|PMID:26467025|PMID:28012175|PMID:28492532|PMID:31880072 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Infantile spasm PMID:18930999|PMID:19563458|PMID:20452746|PMID:22848613|PMID:25741868|PMID:28492532 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:10486327|PMID:10742094|PMID:11118488|PMID:11940708|PMID:12083760|PMID:12086636|PMID:14702334|PMID:14738421|PMID:16458823|PMID:18930999|PMID:20100831|PMID:20522430|PMID:21844054|PMID:21864321|PMID:22151702|PMID:23195492|PMID:23808377|PMID:24277604|PMID:25378155|PMID:25741868|PMID:26096185|PMID:26467025|PMID:27267376|PMID:28084635|PMID:28150151|PMID:28492532|PMID:28842445|PMID:29655203|PMID:29760947|PMID:30525188|PMID:30659983|PMID:31782251 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:10486327|PMID:10742094|PMID:11118488|PMID:11940708|PMID:12083760|PMID:12086636|PMID:14702334|PMID:14738421|PMID:16458823|PMID:17347258|PMID:17903680|PMID:18930999|PMID:19585586|PMID:19586930|PMID:20522430|PMID:21248271|PMID:21844054|PMID:21864321|PMID:22151702|PMID:22156295|PMID:23195492|PMID:23527921|PMID:23808377|PMID:23917401|PMID:24277604|PMID:24328833|PMID:25378155|PMID:25741868|PMID:26096185|PMID:26188943|PMID:26467025|PMID:26680202|PMID:27267376|PMID:27465585|PMID:27781031|PMID:28084635|PMID:28150151|PMID:28492532|PMID:28735751|PMID:28842445|PMID:29760947|PMID:30525188|PMID:30659983|PMID:30868114|PMID:31782251|PMID:32238909 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:735777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:10486327|PMID:10742094|PMID:11118488|PMID:11940708|PMID:12083760|PMID:12086636|PMID:14702334|PMID:14738421|PMID:16458823|PMID:16525050|PMID:17054684|PMID:17347258|PMID:17576681|PMID:17903680|PMID:18930999|PMID:19585586|PMID:19586930|PMID:20100831|PMID:20522430|PMID:21248271|PMID:21719429|PMID:21844054|PMID:21864321|PMID:22151702|PMID:22156295|PMID:23195492|PMID:23527921|PMID:23808377|PMID:23917401|PMID:24277604|PMID:24328833|PMID:25378155|PMID:25576396|PMID:25669891|PMID:25741868|PMID:26096185|PMID:26188943|PMID:26467025|PMID:26544041|PMID:26680202|PMID:27267376|PMID:27465585|PMID:27781031|PMID:28079314|PMID:28084635|PMID:28150151|PMID:28387369|PMID:28492532|PMID:28735751|PMID:28842445|PMID:29100083|PMID:29655203|PMID:29760947|PMID:30525188|PMID:30659983|PMID:30868114|PMID:31782251|PMID:32056211|PMID:32238909|PMID:9536098 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28202706|PMID:28379373|PMID:28492532|PMID:29068549|PMID:30795902 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0070309 absence epilepsy ISO RGD:735777 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Absence seizures PMID:11254445|PMID:18021921|PMID:21396429|PMID:22550089|PMID:22780858|PMID:23398611|PMID:24679980|PMID:25741868|PMID:26990884|PMID:28492532|PMID:29358611|PMID:31765958 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0080422 Dravet syndrome ISO RGD:735777 D RGD:7240710 20180228 OMIM 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0080422 Dravet syndrome ISO RGD:735777 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 6 | ClinVar Annotator: match by term: Dravet syndrome | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15263074|PMID:15277629|PMID:15508916|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16541393|PMID:16713913|PMID:16713920|PMID:17000989|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18554359|PMID:18566737|PMID:18680191|PMID:18804930|PMID:1893009|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19350499|PMID:19359143|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19782004|PMID:19809937|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20301494|PMID:20431604|PMID:20452746|PMID:20491869|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20831750|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21425109|PMID:21555645|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21753172|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22409937|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:22944210|PMID:23086956|PMID:23195492|PMID:23398611|PMID:23527921|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23773995|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24328833|PMID:24502503|PMID:24656210|PMID:24679980|PMID:24776920|PMID:25206388|PMID:25243660|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25459968|PMID:25459969|PMID:25525159|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25741869|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25986186|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26394714|PMID:26467025|PMID:26544041|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28794249|PMID:29056246|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29186148|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:29948376|PMID:30034362|PMID:30142967|PMID:30146492|PMID:30182498|PMID:30311386|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30735520|PMID:30868114|PMID:30945278|PMID:31001185|PMID:31031587|PMID:31069529|PMID:31102827|PMID:31139143|PMID:31164858|PMID:31439038|PMID:31765958|PMID:31780880|PMID:31791873|PMID:31864146|PMID:31875159|PMID:32056211|PMID:32238909|PMID:32461654|PMID:32488064|PMID:32538476|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32702657|PMID:33278787|PMID:33674996|PMID:34015165|PMID:34379890|PMID:34489640|PMID:34539730|PMID:9536098|PMID:9573403 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome PMID:11940708|PMID:12083760|PMID:16458823|PMID:20522430|PMID:22151702|PMID:23195492|PMID:23808377|PMID:25741868|PMID:26096185|PMID:26467025|PMID:28492532 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:735777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome PMID:11940708|PMID:12083760|PMID:16458823|PMID:20522430|PMID:22151702|PMID:23195492|PMID:23808377|PMID:25741868|PMID:26096185|PMID:26467025|PMID:26544041|PMID:28079314|PMID:28387369|PMID:28492532|PMID:29100083|PMID:32056211 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0080718 GNE myopathy ISO RGD:735777 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: INCLUSION BODY MYOPATHY, HEREDITARY, AUTOSOMAL RECESSIVE PMID:12083760|PMID:15277629|PMID:17054685|PMID:18076640|PMID:21248271|PMID:25741868|PMID:28102150|PMID:28492532|PMID:28708303 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gait disturbance PMID:25741868|PMID:28492532 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0111112 nephronophthisis 1 ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0111183 familial hemiplegic migraine 3 ISO RGD:735777 D RGD:7240710 20180130 OMIM 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0111183 familial hemiplegic migraine 3 ISO RGD:735777 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Migraine, familial hemiplegic, 3 PMID:11254444|PMID:11254445|PMID:11359211|PMID:11940708|PMID:12083760|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12821740|PMID:14504318|PMID:14738421|PMID:15277634|PMID:16054936|PMID:16199547|PMID:16458823|PMID:17054684|PMID:17054685|PMID:17347258|PMID:17561957|PMID:17576681|PMID:18021921|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19332696|PMID:19359143|PMID:19522081|PMID:19563349|PMID:19585586|PMID:19589774|PMID:19809937|PMID:20431604|PMID:20522430|PMID:20600615|PMID:20729507|PMID:20879882|PMID:21248271|PMID:21396429|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22150645|PMID:22409937|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:23195492|PMID:23398611|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23934111|PMID:24066114|PMID:24136861|PMID:24168886|PMID:24328833|PMID:24337656|PMID:24464349|PMID:24656210|PMID:24679980|PMID:25243660|PMID:25326635|PMID:25401298|PMID:25525159|PMID:25669891|PMID:25741868|PMID:25885068|PMID:25986186|PMID:26096185|PMID:26169758|PMID:26232052|PMID:26236192|PMID:26467025|PMID:26544041|PMID:26633542|PMID:26699486|PMID:26763045|PMID:26845707|PMID:26990884|PMID:27113213|PMID:27231140|PMID:27236449|PMID:27465585|PMID:27864847|PMID:28079314|PMID:28148630|PMID:28202706|PMID:28488083|PMID:28492532|PMID:28544625|PMID:28794249|PMID:29100083|PMID:29141279|PMID:29145747|PMID:29186148|PMID:29358611|PMID:29739726|PMID:29745119|PMID:29852413|PMID:30258939|PMID:30321769|PMID:30498473|PMID:30619928|PMID:30868114|PMID:31730442|PMID:31765958|PMID:31791873|PMID:31864146|PMID:31875159|PMID:32090326|PMID:32581362|PMID:34489640|PMID:9536098 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0111294 generalized epilepsy with febrile seizures plus 2 ISO RGD:735777 D RGD:7240710 20180130 OMIM 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0111294 generalized epilepsy with febrile seizures plus 2 ISO RGD:735777 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 2 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2 PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11756608|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12821740|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16326807|PMID:16458823|PMID:16505326|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:17054684|PMID:17166794|PMID:17347258|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18554359|PMID:18566737|PMID:18804930|PMID:1893009|PMID:1893099|PMID:18930999|PMID:19236456|PMID:19359143|PMID:19522081|PMID:19563349|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19809937|PMID:20100831|PMID:20110217|PMID:20194124|PMID:20301494|PMID:20431604|PMID:20522430|PMID:20550552|PMID:20600615|PMID:20729507|PMID:20831750|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21713554|PMID:21719429|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22409937|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24136861|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24464349|PMID:24656210|PMID:24679980|PMID:25243660|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25525159|PMID:25576396|PMID:25741868|PMID:25754450|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26467025|PMID:26544041|PMID:26699486|PMID:26845707|PMID:26990884|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27734276|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28079314|PMID:28084635|PMID:28148630|PMID:28150151|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28735751|PMID:28794249|PMID:29100083|PMID:29141279|PMID:29141311|PMID:29358611|PMID:29655203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:30034362|PMID:30142967|PMID:30321769|PMID:30525188|PMID:30619928|PMID:30659983|PMID:31031587|PMID:31164858|PMID:31755124|PMID:31765958|PMID:31782251|PMID:31791873|PMID:31864146|PMID:31875159|PMID:32056211|PMID:32090326|PMID:32238909|PMID:32581362|PMID:33391346|PMID:33895391|PMID:34489640|PMID:35082603|PMID:9126059|PMID:9536098 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0111295 generalized epilepsy with febrile seizures plus 7 ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28202706|PMID:28379373|PMID:28492532|PMID:29068549|PMID:30795902 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0111302 generalized epilepsy with febrile seizures plus 1 ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1 PMID:10521305|PMID:10742094|PMID:11254444|PMID:11254445|PMID:11524484|PMID:11567038|PMID:11756608|PMID:11823106|PMID:12086636|PMID:12566275|PMID:12576172|PMID:12919402|PMID:14672992|PMID:14702334|PMID:16075041|PMID:16525050|PMID:17507202|PMID:17561957|PMID:18076640|PMID:18413471|PMID:18804930|PMID:18930999|PMID:19464195|PMID:20117752|PMID:20522430|PMID:20550552|PMID:20600615|PMID:20729507|PMID:21719429|PMID:21864321|PMID:22525008|PMID:22780858|PMID:23195492|PMID:23945787|PMID:24277604|PMID:25348405|PMID:25576396|PMID:25741868|PMID:26096185|PMID:26990884|PMID:27066544|PMID:28084635|PMID:28192756|PMID:28202706|PMID:28492532|PMID:29141311|PMID:9126059 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0111307 familial febrile seizures 1 ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FEB1 PMID:28492532 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15277629|PMID:15508916|PMID:15694566|PMID:15805193|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17129991|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17679682|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:1868258|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19289736|PMID:19303743|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19763161|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23086956|PMID:23103419|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24472396|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25459969|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25576396|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26252084|PMID:26311622|PMID:26314341|PMID:26339958|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27652284|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28492532|PMID:28525652|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28794249|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29186148|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30558019|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30805006|PMID:30868114|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31069529|PMID:31302675|PMID:31439038|PMID:31487502|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32238909 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:9126059|PMID:9536098 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:15805193|PMID:16199547|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19289736|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20110217|PMID:20117752|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25576396|PMID:25590135|PMID:25741868|PMID:25885068|PMID:25986186|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26236192|PMID:26314341|PMID:26339958|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26699486|PMID:26763045|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28192756|PMID:28202706|PMID:28356460|PMID:28387369|PMID:28492532|PMID:28525652|PMID:28708303|PMID:28794249|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29145747|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29852413|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30805006|PMID:30868114|PMID:31001185|PMID:31031587|PMID:31069529|PMID:31487502|PMID:31730442|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32238909|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:33391346|PMID:9126059|PMID:9536098 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:15805193|PMID:15880351|PMID:16199547|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19289736|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20110217|PMID:20117752|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25576396|PMID:25590135|PMID:25741868|PMID:25754450|PMID:25885068|PMID:25986186|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26236192|PMID:26314341|PMID:26339958|PMID:26394714|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26680202|PMID:26699486|PMID:26763045|PMID:26845707|PMID:26934580|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28356460|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28518218|PMID:28525652|PMID:28708303|PMID:28735751|PMID:28794249|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29145747|PMID:29186148|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30805006|PMID:30868114|PMID:31001185|PMID:31031587|PMID:31069529|PMID:31487502|PMID:31730442|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32238909|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:33391346|PMID:9126059|PMID:9536098 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11756608|PMID:11823106|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15133511|PMID:15277629|PMID:15508916|PMID:15694566|PMID:15805193|PMID:15880351|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17129991|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17679682|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18251839|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:18566737|PMID:18621678|PMID:18632234|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19220312|PMID:19236456|PMID:19289736|PMID:19303743|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19763161|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20301562|PMID:20307669|PMID:20358599|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21488303|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22028529|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22525008|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22944210|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23032131|PMID:23086956|PMID:23103419|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23485646|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24472396|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25108116|PMID:25206388|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25459969|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25569746|PMID:25576396|PMID:25590135|PMID:25640679|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25795284|PMID:25818041|PMID:25885068|PMID:25986186|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26236192|PMID:26311622|PMID:26314341|PMID:26339958|PMID:26394714|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26680202|PMID:26699486|PMID:26716362|PMID:26763045|PMID:26845707|PMID:26863999|PMID:26934580|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27458797|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27652284|PMID:27734276|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28356460|PMID:28379373|PMID:28387369|PMID:28469861|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28518218|PMID:28525652|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28735751|PMID:28794249|PMID:28837158|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:29095814|PMID:29100083|PMID:29141279|PMID:29141311|PMID:29142202|PMID:29145747|PMID:29186148|PMID:29188601|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29573403|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:29930392|PMID:29948376|PMID:30011152|PMID:30034362|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30558019|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30795902|PMID:30805006|PMID:30868114|PMID:30945278|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31031587|PMID:31069529|PMID:31164858|PMID:31175295|PMID:31273778|PMID:31302675|PMID:31439038|PMID:31487502|PMID:31618753|PMID:31677916|PMID:31720899|PMID:31730442|PMID:31755124|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:31875159|PMID:31880072|PMID:32056211|PMID:32090326|PMID:32238909|PMID:32276107|PMID:32461654|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:32613771|PMID:32702657|PMID:33278787|PMID:33391346|PMID:33674996|PMID:33895391|PMID:34015165|PMID:34055682|PMID:34338318|PMID:34379890|PMID:34489640|PMID:34539730|PMID:9126059|PMID:9536098|PMID:9573403 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:1059 intellectual disability ISO RGD:735777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: intellectual disabilities PMID:11254445|PMID:11359211|PMID:12610651|PMID:12821740|PMID:14738421|PMID:17054684|PMID:17347258|PMID:17561957|PMID:18930999|PMID:19200853|PMID:19522081|PMID:19585586|PMID:20879882|PMID:21868258|PMID:22150645|PMID:22612257|PMID:22848613|PMID:23195492|PMID:23934111|PMID:24168886|PMID:25741868|PMID:26096185|PMID:26990884|PMID:28084635|PMID:28492532|PMID:29100083|PMID:29358611|PMID:29655203|PMID:29948376|PMID:32538476 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:10907 microcephaly ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:14672992|PMID:17347258|PMID:25741868|PMID:28492532|PMID:32581362 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:12712 nephronophthisis ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:12849 autistic disorder ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic disorder PMID:11254445|PMID:12566275|PMID:12610651|PMID:14672992|PMID:16199547|PMID:17347258|PMID:18930999|PMID:19200853|PMID:19522081|PMID:20522430|PMID:22071555|PMID:22409937|PMID:23195492|PMID:23934111|PMID:25741868|PMID:26990884|PMID:28148630|PMID:28492532|PMID:29358611|PMID:32581362 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial neonatal seizures PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:1826 epilepsy ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure Disorders PMID:11254444|PMID:11254445|PMID:12083760|PMID:12566275|PMID:12610651|PMID:14504318|PMID:14738421|PMID:15277629|PMID:15508916|PMID:16199547|PMID:16525050|PMID:16713913|PMID:16713920|PMID:17054684|PMID:17166794|PMID:17347258|PMID:17561957|PMID:18021921|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19522081|PMID:19585586|PMID:19589774|PMID:20431604|PMID:20522430|PMID:20550552|PMID:20729507|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21713554|PMID:21864321|PMID:21868258|PMID:22011963|PMID:22071555|PMID:22409937|PMID:22550089|PMID:22780858|PMID:22848613|PMID:23195492|PMID:23398611|PMID:23808377|PMID:23895530|PMID:23934111|PMID:24168886|PMID:24277604|PMID:24337656|PMID:24464349|PMID:24656210|PMID:24679980|PMID:25401298|PMID:25576396|PMID:25741868|PMID:26096185|PMID:26232052|PMID:26467025|PMID:26845707|PMID:26990884|PMID:27236449|PMID:27465585|PMID:27781031|PMID:28012175|PMID:28084635|PMID:28148630|PMID:28150151|PMID:28492532|PMID:28794249|PMID:29141311|PMID:29186148|PMID:29358611|PMID:29852413|PMID:30735520|PMID:31302675|PMID:31765958|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32090326|PMID:32581362 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:2234 focal epilepsy ISO RGD:735777 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Focal epilepsy | ClinVar Annotator: match by term: Focal seizures with impairment of consciousness or awareness | ClinVar Annotator: match by term: Focal-onset seizure PMID:12566275|PMID:14672992|PMID:16199547|PMID:17347258|PMID:17903680|PMID:18930999|PMID:19585586|PMID:19586930|PMID:20522430|PMID:21248271|PMID:22071555|PMID:22156295|PMID:22409937|PMID:23527921|PMID:23917401|PMID:23934111|PMID:24328833|PMID:25741868|PMID:26188943|PMID:26467025|PMID:27465585|PMID:27781031|PMID:28148630|PMID:28492532|PMID:32238909|PMID:32581362 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:308 early myoclonic encephalopathy ISO RGD:735777 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:16199547|PMID:16458823|PMID:16541393|PMID:16713913|PMID:16713920|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18554359|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19350499|PMID:19359143|PMID:19522081|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19782004|PMID:19809937|PMID:20110217|PMID:20117752|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21425109|PMID:21555645|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22409937|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:23195492|PMID:23398611|PMID:23527921|PMID:23662938|PMID:23762420|PMID:23808377|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24328833|PMID:24502503|PMID:24656210|PMID:24679980|PMID:25243660|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25459968|PMID:25525159|PMID:25590135|PMID:25741868|PMID:25885068|PMID:25986186|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26467025|PMID:26544041|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28079314|PMID:28084635|PMID:28148630|PMID:28150151|PMID:28192756|PMID:28202706|PMID:28488083|PMID:28492532|PMID:28708303|PMID:28794249|PMID:29056246|PMID:29100083|PMID:29141279|PMID:29358611|PMID:29460957|PMID:29655203|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:30182498|PMID:30311386|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30868114|PMID:31031587|PMID:31765958|PMID:31780880|PMID:31791873|PMID:31864146|PMID:32238909|PMID:32538476|PMID:32573669|PMID:32581362|PMID:9536098 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:308 early myoclonic encephalopathy ISO RGD:735777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16541393|PMID:16713913|PMID:16713920|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18554359|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19350499|PMID:19359143|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19782004|PMID:19809937|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21425109|PMID:21555645|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22409937|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:22944210|PMID:23086956|PMID:23195492|PMID:23398611|PMID:23527921|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24328833|PMID:24502503|PMID:24656210|PMID:24679980|PMID:25206388|PMID:25243660|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25459968|PMID:25459969|PMID:25525159|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25986186|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26467025|PMID:26544041|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28794249|PMID:29056246|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29186148|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:29948376|PMID:30034362|PMID:30146492|PMID:30182498|PMID:30311386|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30868114|PMID:30945278|PMID:31001185|PMID:31031587|PMID:31069529|PMID:31164858|PMID:31765958|PMID:31780880|PMID:31791873|PMID:31864146|PMID:31875159|PMID:32056211|PMID:32238909|PMID:32461654|PMID:32538476|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32702657|PMID:33278787|PMID:33674996|PMID:34015165|PMID:34379890|PMID:34489640|PMID:34539730|PMID:9536098|PMID:9573403 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:308 early myoclonic encephalopathy ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16541393|PMID:16713913|PMID:16713920|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18554359|PMID:18566737|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19350499|PMID:19359143|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19782004|PMID:19809937|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21425109|PMID:21555645|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22409937|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:22944210|PMID:23086956|PMID:23195492|PMID:23398611|PMID:23527921|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24328833|PMID:24502503|PMID:24656210|PMID:24679980|PMID:25206388|PMID:25243660|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25459968|PMID:25459969|PMID:25525159|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25986186|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26467025|PMID:26544041|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28794249|PMID:29056246|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29186148|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:29948376|PMID:30034362|PMID:30146492|PMID:30182498|PMID:30311386|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30868114|PMID:30945278|PMID:31001185|PMID:31031587|PMID:31069529|PMID:31164858|PMID:31765958|PMID:31780880|PMID:31791873|PMID:31864146|PMID:31875159|PMID:32056211|PMID:32238909|PMID:32461654|PMID:32538476|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32702657|PMID:33278787|PMID:33674996|PMID:34015165|PMID:34379890|PMID:34489640|PMID:34539730|PMID:9536098|PMID:9573403 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:735777 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:11254445|PMID:12610651|PMID:18021921|PMID:19200853|PMID:19522081|PMID:21396429|PMID:22550089|PMID:22780858|PMID:23195492|PMID:23398611|PMID:24679980|PMID:25741868|PMID:26990884|PMID:28492532|PMID:29358611|PMID:31765958 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:480 movement disease ISO RGD:735777 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12907273 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:630 genetic disease ISO RGD:735777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10521305|PMID:10742094|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12610651|PMID:12821740|PMID:14504318|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15277629|PMID:15508916|PMID:15880351|PMID:16199547|PMID:16458823|PMID:16541393|PMID:16713913|PMID:16713920|PMID:17054684|PMID:17166794|PMID:17347258|PMID:17537961|PMID:17576681|PMID:18021921|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18554359|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19522081|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19782004|PMID:20196795|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21713554|PMID:21719429|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22150645|PMID:22151702|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23762420|PMID:23808377|PMID:23884151|PMID:23934111|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24337656|PMID:24472396|PMID:24502503|PMID:24679980|PMID:24848745|PMID:25459968|PMID:25525159|PMID:25741868|PMID:25754450|PMID:25795284|PMID:26096185|PMID:26232052|PMID:26394714|PMID:26467025|PMID:26544041|PMID:26633542|PMID:26680202|PMID:26699486|PMID:26845707|PMID:26934580|PMID:26990884|PMID:27029629|PMID:27231140|PMID:27236449|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28079314|PMID:28150151|PMID:28183995|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28518218|PMID:28735751|PMID:28842445|PMID:28951233|PMID:29100083|PMID:29141279|PMID:29186148|PMID:29358611|PMID:29408779|PMID:29429461|PMID:29601086|PMID:29655203|PMID:29739726|PMID:29745119|PMID:29852413|PMID:29948376|PMID:30182498|PMID:31009440|PMID:31164858|PMID:31302675|PMID:31765958|PMID:31864146|PMID:32056211|PMID:32461654|PMID:33391346|PMID:9536098 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:735777 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:11254445|PMID:18021921|PMID:21396429|PMID:22550089|PMID:22780858|PMID:23398611|PMID:24679980|PMID:25741868|PMID:26990884|PMID:28492532|PMID:29358611|PMID:31765958 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9000343 Vision Disorders ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:18930999|PMID:19563458|PMID:20452746|PMID:22848613|PMID:25741868|PMID:28492532 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9001716 Hip Contracture ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hip contracture PMID:17561957|PMID:30311386 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalized epilepsy PMID:11359211|PMID:14504318|PMID:17054684|PMID:17347258|PMID:18930999|PMID:19563458|PMID:20452746|PMID:21719429|PMID:22848613|PMID:25741868|PMID:26096185|PMID:26993267|PMID:28492532|PMID:32581362 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9002914 Familial Sudden Death ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death in childhood PMID:25741868 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9003133 Hypertelorism ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:19763161|PMID:25741868|PMID:28492532 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: myoclonic epilepsy PMID:28492532 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:18930999|PMID:19563458|PMID:20452746|PMID:22848613|PMID:25741868|PMID:28492532 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9005687 Autosomal Dominant Intellectual Developmental Disorder 64 ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 64 PMID:25741868|PMID:28492532 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9006534 Nervous System Malformations ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:28492532 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9006942 Familial Febrile Seizures 3A ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Febrile seizures, familial, 3a PMID:15805193|PMID:16326807|PMID:17001291|PMID:17436242|PMID:19289736|PMID:19949041|PMID:22188362|PMID:22292851|PMID:22591328|PMID:22992668|PMID:26314341|PMID:26555147|PMID:28492532 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9007 sudden infant death syndrome ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868|PMID:28492532|PMID:29601086 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9007956 Febrile Seizures ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Febrile seizures 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9007956 Febrile Seizures susceptibility ISO RGD:69364 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.E539A,p.N1417H(rat) PMID:20410126|REF_RGD_ID:12792282 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9008086 Developmental Disabilities ISO RGD:735777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:12566275|PMID:16199547|PMID:17347258|PMID:18930999|PMID:19563458|PMID:20452746|PMID:20522430|PMID:22071555|PMID:22409937|PMID:22848613|PMID:23895530|PMID:23934111|PMID:24656210|PMID:25401298|PMID:25741868|PMID:28012175|PMID:28148630|PMID:28492532|PMID:28794249|PMID:31791873|PMID:32581362 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9008265 Developmental and Epileptic Encephalopathy 6B ISO RGD:735777 D RGD:7240710 20210526 OMIM 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9008265 Developmental and Epileptic Encephalopathy 6B ISO RGD:735777 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 6B | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 6B, non-Dravet PMID:11940708|PMID:12083760|PMID:12566275|PMID:12821740|PMID:16199547|PMID:17054684|PMID:17347258|PMID:17561957|PMID:17576681|PMID:18804930|PMID:18930999|PMID:19350499|PMID:19563349|PMID:19585586|PMID:19589774|PMID:20431604|PMID:20522430|PMID:21248271|PMID:21868258|PMID:21906962|PMID:22071555|PMID:22092154|PMID:22409937|PMID:22848613|PMID:23195492|PMID:23708187|PMID:23821540|PMID:23895530|PMID:23934111|PMID:24656210|PMID:24776920|PMID:25401298|PMID:25525159|PMID:25741868|PMID:26096185|PMID:26467025|PMID:26544041|PMID:26990884|PMID:26993267|PMID:27465585|PMID:28148630|PMID:28202706|PMID:28492532|PMID:28794249|PMID:29056246|PMID:29745119|PMID:29852413|PMID:30034362|PMID:30321769|PMID:30619928|PMID:31791873|PMID:32581362|PMID:9536098 11788462 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9009021 Plagiocephaly ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Plagiocephaly PMID:18930999|PMID:19563458|PMID:20452746|PMID:22848613|PMID:25741868|PMID:28492532 11788493 E2F4 E2F transcription factor 4 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1323111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11788493 E2F4 E2F transcription factor 4 gene DOID:10754 otitis media ISO RGD:1323112 D RGD:9068941 20220825 MouseDO OMIM:166760 11788493 E2F4 E2F transcription factor 4 gene DOID:3883 Lynch syndrome ISO RGD:1323111 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 11788493 E2F4 E2F transcription factor 4 gene DOID:630 genetic disease ISO RGD:1323111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788493 E2F4 E2F transcription factor 4 gene DOID:9000918 Disease Progression ISO RGD:1323111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 11788512 LDLRAD4 low density lipoprotein receptor class A domain containing 4 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1313099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11788512 LDLRAD4 low density lipoprotein receptor class A domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1313099 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11788512 LDLRAD4 low density lipoprotein receptor class A domain containing 4 gene DOID:630 genetic disease ISO RGD:1313099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788531 GAL3ST3 galactose-3-O-sulfotransferase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1343263 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11788531 GAL3ST3 galactose-3-O-sulfotransferase 3 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1343263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 11788531 GAL3ST3 galactose-3-O-sulfotransferase 3 gene DOID:1059 intellectual disability ISO RGD:1343263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11788531 GAL3ST3 galactose-3-O-sulfotransferase 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1343263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11788531 GAL3ST3 galactose-3-O-sulfotransferase 3 gene DOID:2746 glycogen storage disease V ISO RGD:1343263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11788531 GAL3ST3 galactose-3-O-sulfotransferase 3 gene DOID:630 genetic disease ISO RGD:1343263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788531 GAL3ST3 galactose-3-O-sulfotransferase 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1343263 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11788531 GAL3ST3 galactose-3-O-sulfotransferase 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1343263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11788539 ROPN1 rhophilin associated tail protein 1 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1344223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 11788539 ROPN1 rhophilin associated tail protein 1 gene DOID:630 genetic disease ISO RGD:1344223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788539 ROPN1 rhophilin associated tail protein 1 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1344223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 11788539 ROPN1 rhophilin associated tail protein 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1344223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 11788539 ROPN1 rhophilin associated tail protein 1 gene DOID:9270 alkaptonuria ISO RGD:1344223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11788556 GPR88 G protein-coupled receptor 88 gene DOID:630 genetic disease ISO RGD:735493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11788556 GPR88 G protein-coupled receptor 88 gene DOID:9003973 Childhood-Onset Chorea with Psychomotor Retardation ISO RGD:735493 D RGD:7240710 20190315 OMIM 11788556 GPR88 G protein-coupled receptor 88 gene DOID:9003973 Childhood-Onset Chorea with Psychomotor Retardation ISO RGD:735493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chorea, childhood-onset, with psychomotor retardation PMID:25741868|PMID:27123486|PMID:28492532 11788556 GPR88 G protein-coupled receptor 88 gene DOID:9269 maple syrup urine disease ISO RGD:735493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:0060180 colitis ISO RGD:3952 D RGD:9068941 20200609 RGD protein:increased expression:colon: PMID:22261574|REF_RGD_ID:7207796 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:0070227 intrahepatic cholestasis of pregnancy ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28851649 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:0080162 lupus nephritis severity ISO RGD:730988 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:22788914|REF_RGD_ID:7241032 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:10763 hypertension ISO RGD:3952 D RGD:9068941 20200609 RGD mRNA:increased expression:multiple organs PMID:19080338|REF_RGD_ID:2313107 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:10763 hypertension ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11834524|PMID:19018797 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:10763 hypertension ISO RGD:730988 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type1; protein:increased expression:serum: PMID:20569722|REF_RGD_ID:7241235 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:10763 hypertension disease_progression ISO RGD:3952 D RGD:9068941 20200609 RGD associated with SHRSP;mRNA,protein:increased expression:kidney, membrane fraction (rat) PMID:17938382|REF_RGD_ID:1643008 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:10923 sickle cell anemia ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16916123 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:1168 familial hyperlipidemia ISO RGD:3952 D RGD:9068941 20200609 RGD PMID:18159007|REF_RGD_ID:2313110 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:1287 cardiovascular system disease ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16332659|PMID:25575156 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:12918 thromboangiitis obliterans ISO RGD:3952 D RGD:9068941 20200609 RGD protein:increased expression:femoral artery: PMID:23069071|REF_RGD_ID:7207785 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:12918 thromboangiitis obliterans ISO RGD:730988 D RGD:9068941 20200609 RGD PMID:12086338|REF_RGD_ID:1580352 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:13001 carotid stenosis ISO RGD:3952 D RGD:9068941 20200609 RGD PMID:19958991|REF_RGD_ID:7240515 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:13580 cholestasis ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224055 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:13949 interstitial cystitis ISO RGD:730988 D RGD:9068941 20200609 RGD protein:increased expression:bladder, urine PMID:22441309|REF_RGD_ID:7241234 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:1555 urticaria ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12121561 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:1793 pancreatic cancer ISO RGD:730988 D RGD:9068941 20200609 RGD PMID:17652277|REF_RGD_ID:2325162 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:1936 atherosclerosis ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12677255 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:1936 atherosclerosis ameliorates ISO RGD:11481 D RGD:9068941 20230330 RGD PMID:35854140|REF_RGD_ID:242905195 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:2224 essential thrombocythemia ISO RGD:730988 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:24434346|REF_RGD_ID:11354980 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:2349 arteriosclerosis ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:2355 anemia ISO RGD:730988 D RGD:9068941 20200609 RGD associated with Renal Insufficiency,Chronic;protein:increased expression:serum: PMID:18974656|REF_RGD_ID:7241202 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:2377 multiple sclerosis ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20175758 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:2723 dermatitis ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27206134 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:2921 glomerulonephritis ISO RGD:730988 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:18574676|REF_RGD_ID:7241215 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:3407 carotid artery disease ISO RGD:730988 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:19717975|REF_RGD_ID:2312760 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:4676 uremia ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17347482 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:11481 D RGD:9068941 20200609 RGD protein:increased expression:urine, serum: PMID:23460853|REF_RGD_ID:7241232 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:4989 pancreatitis ISO RGD:730988 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12923961|REF_RGD_ID:2325163 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:520 aortic disease ISO RGD:3952 D RGD:9068941 20200609 RGD PMID:17873024|REF_RGD_ID:2313112 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:730988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:6432 pulmonary hypertension ISO RGD:3952 D RGD:9068941 20200609 RGD protein:increased expression:blood vessel endothelium PMID:17934115|REF_RGD_ID:2298843 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:684 hepatocellular carcinoma ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22922871 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:77 gastrointestinal system disease susceptibility ISO RGD:730988 D RGD:9068941 20200609 RGD associated with Purpura, Schoenlein-Henoch;DNA:polymorphism:cds: PMID:11361181|REF_RGD_ID:11354985 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:784 chronic kidney disease ISO RGD:3952 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:20820841|REF_RGD_ID:4145364 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:784 chronic kidney disease ISO RGD:730988 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21111939|REF_RGD_ID:7241036 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:824 periodontitis ISO RGD:3952 D RGD:9068941 20200609 RGD associated with obesity;protein:increased expression:aorta: PMID:20065945|REF_RGD_ID:7240508 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:8481 rheumatic myocarditis severity ISO RGD:730988 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22987107|REF_RGD_ID:13702907 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:8577 ulcerative colitis ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15553846 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:8947 diabetic retinopathy ISO RGD:730988 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:vitreous humor, serum PMID:19237221|REF_RGD_ID:2312762 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14602771 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:9000888 Pregnancy in Diabetics ISO RGD:730988 D RGD:9068941 20200609 RGD PMID:20129688|REF_RGD_ID:7241238 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730988 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms;protein:increased expression:serum PMID:12923961|REF_RGD_ID:2325163 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:9001542 Albuminuria ISO RGD:730988 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:18299691|REF_RGD_ID:2312766 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:3952 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:23303408|REF_RGD_ID:7240523 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:730988 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus,Type 1;protein:increased expression:plasma: PMID:20138682|REF_RGD_ID:7241237 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3952 D RGD:9068941 20200609 RGD PMID:12196270|REF_RGD_ID:1580348 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:9003871 Venous Thrombosis ISO RGD:3952 D RGD:9068941 20200609 RGD protein:increased expression:thrombus, vein PMID:23199547|REF_RGD_ID:7207783 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:9004009 Reperfusion Injury ISO RGD:3952 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:18813897|REF_RGD_ID:2313108 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:730988 D RGD:9068941 20200609 RGD PMID:12172318|REF_RGD_ID:1580350 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:11481 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:18093596|REF_RGD_ID:2306988 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3952 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:18983856|REF_RGD_ID:2312764 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:9005930 Endotoxemia ISO RGD:3952 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:20061033|REF_RGD_ID:7240511 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:3952 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:20164827|REF_RGD_ID:7240507 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:9006359 Vitamin D Deficiency ISO RGD:730988 D RGD:9068941 20200609 RGD associated with obesity;protein:increased expression:serum: PMID:22677566|REF_RGD_ID:7241033 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:3952 D RGD:9068941 20200609 RGD PMID:18718174|REF_RGD_ID:2313109 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:9006709 Primary Graft Dysfunction ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:9007096 Stroke susceptibility ISO RGD:730988 D RGD:9068941 20200609 RGD associated with sickle cell anemia;DNA:missense mutation:exon 6:1238G>C (human) PMID:12393616|REF_RGD_ID:737738 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:9007278 Anaphylaxis ISO RGD:3952 D RGD:9068941 20200609 RGD PMID:21604443|REF_RGD_ID:7207802 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:9007692 Insulin Resistance ISO RGD:730988 D RGD:9068941 20200609 RGD PMID:11882338|REF_RGD_ID:1580351 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3952 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:23052973|REF_RGD_ID:7207792 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:9008550 Vitamin A Deficiency ISO RGD:3952 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:21512820|REF_RGD_ID:7207803 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12759764 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:9009185 Lymphocytic Myocarditis ISO RGD:730988 D RGD:9068941 20200609 RGD PMID:9205546|REF_RGD_ID:13703027 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:9074 systemic lupus erythematosus severity ISO RGD:730988 D RGD:9068941 20200609 RGD PMID:18693542|REF_RGD_ID:7241211 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:9269 maple syrup urine disease ISO RGD:730988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730988 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18619052|REF_RGD_ID:2312765 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:9477 pulmonary embolism ISO RGD:3952 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19915157|REF_RGD_ID:7240517 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:9743 diabetic neuropathy ISO RGD:730988 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:19414982|REF_RGD_ID:2312761 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730988 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic;protein:increased expression:artery: PMID:22210567|REF_RGD_ID:7241034 11788562 VCAM1 vascular cell adhesion molecule 1 gene DOID:9970 obesity ISO RGD:11481 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:19260948|REF_RGD_ID:2312763 11788574 PTPRD protein tyrosine phosphatase receptor type D gene DOID:0050425 restless legs syndrome ISO RGD:1348083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18660810 11788574 PTPRD protein tyrosine phosphatase receptor type D gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1348083 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 11788574 PTPRD protein tyrosine phosphatase receptor type D gene DOID:10283 prostate cancer ISO RGD:1348083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11788574 PTPRD protein tyrosine phosphatase receptor type D gene DOID:1059 intellectual disability ISO RGD:1348083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11788574 PTPRD protein tyrosine phosphatase receptor type D gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1348083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19546859 11788574 PTPRD protein tyrosine phosphatase receptor type D gene DOID:630 genetic disease ISO RGD:1348083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788574 PTPRD protein tyrosine phosphatase receptor type D gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11788574 PTPRD protein tyrosine phosphatase receptor type D gene DOID:9008443 Colorectal Neoplasms ISO RGD:1348083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 11788574 PTPRD protein tyrosine phosphatase receptor type D gene DOID:9008939 Breast Neoplasms ISO RGD:1348083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 11788655 FBXL17 F-box and leucine rich repeat protein 17 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348950 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11788655 FBXL17 F-box and leucine rich repeat protein 17 gene DOID:630 genetic disease ISO RGD:1348950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788655 FBXL17 F-box and leucine rich repeat protein 17 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11788655 FBXL17 F-box and leucine rich repeat protein 17 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 11788655 FBXL17 F-box and leucine rich repeat protein 17 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348950 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11788668 POLR3GL RNA polymerase III subunit GL gene DOID:0111027 hemochromatosis type 2A ISO RGD:1353647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 2A PMID:28492532 11788668 POLR3GL RNA polymerase III subunit GL gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1353647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 11788668 POLR3GL RNA polymerase III subunit GL gene DOID:1540 parathyroid carcinoma ISO RGD:1353647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11788668 POLR3GL RNA polymerase III subunit GL gene DOID:5419 schizophrenia ISO RGD:1353647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11788668 POLR3GL RNA polymerase III subunit GL gene DOID:630 genetic disease ISO RGD:1353647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788668 POLR3GL RNA polymerase III subunit GL gene DOID:9000738 SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY ISO RGD:1353647 D RGD:7240710 20210421 OMIM 11788668 POLR3GL RNA polymerase III subunit GL gene DOID:9000738 SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY ISO RGD:1353647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature, oligodontia, dysmorphic facies, and motor delay PMID:31089205|PMID:31695177 11788668 POLR3GL RNA polymerase III subunit GL gene DOID:9007661 Dwarfism ISO RGD:1353647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:31089205 11788668 POLR3GL RNA polymerase III subunit GL gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11788680 SDHAF3 succinate dehydrogenase complex assembly factor 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11788680 SDHAF3 succinate dehydrogenase complex assembly factor 3 gene DOID:630 genetic disease ISO RGD:1313002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788693 ZFYVE28 zinc finger FYVE-type containing 28 gene DOID:0080600 COVID-19 ISO RGD:1320885 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11788693 ZFYVE28 zinc finger FYVE-type containing 28 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1320885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 11788693 ZFYVE28 zinc finger FYVE-type containing 28 gene DOID:1856 cherubism ISO RGD:1320885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11788693 ZFYVE28 zinc finger FYVE-type containing 28 gene DOID:630 genetic disease ISO RGD:1320885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788728 TFEC transcription factor EC gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11788728 TFEC transcription factor EC gene DOID:630 genetic disease ISO RGD:735415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788728 TFEC transcription factor EC gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735415 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11788749 LEF1 lymphoid enhancer binding factor 1 gene DOID:0050827 rheumatic heart disease ISO RGD:620241 D RGD:9068941 20230202 RGD mRNA, protein:increases expression:mitral valve, heart (rat) PMID:33179113|REF_RGD_ID:155882558 11788749 LEF1 lymphoid enhancer binding factor 1 gene DOID:0090020 split hand-foot malformation ISO RGD:735736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation PMID:25741868 11788749 LEF1 lymphoid enhancer binding factor 1 gene DOID:10283 prostate cancer ISO RGD:735736 D RGD:9068941 20200609 RGD associated with prostate cancer PMID:27067790|REF_RGD_ID:11531513 11788749 LEF1 lymphoid enhancer binding factor 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:735737 D RGD:9068941 20200609 RGD PMID:16738313|REF_RGD_ID:11252001 11788749 LEF1 lymphoid enhancer binding factor 1 gene DOID:2394 ovarian cancer ISO RGD:735736 D RGD:9068941 20200609 RGD protein:altered activity:ovary PMID:14520463|REF_RGD_ID:2298717 11788749 LEF1 lymphoid enhancer binding factor 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:735736 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid PMID:28677753|REF_RGD_ID:13792605 11788749 LEF1 lymphoid enhancer binding factor 1 gene DOID:5759 sebaceous gland neoplasm ISO RGD:735736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16565724 11788749 LEF1 lymphoid enhancer binding factor 1 gene DOID:630 genetic disease ISO RGD:735736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788749 LEF1 lymphoid enhancer binding factor 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:735736 D RGD:9068941 20200609 RGD PMID:27067790|REF_RGD_ID:11531513 11788749 LEF1 lymphoid enhancer binding factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 11788749 LEF1 lymphoid enhancer binding factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735736 D RGD:9068941 20200609 RGD associated with prostate cancer PMID:27067790|REF_RGD_ID:11531513 11788749 LEF1 lymphoid enhancer binding factor 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:735736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770605 11788749 LEF1 lymphoid enhancer binding factor 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:735736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21188121 11788749 LEF1 lymphoid enhancer binding factor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 11788749 LEF1 lymphoid enhancer binding factor 1 gene DOID:9006205 Animal Disease Models ISO RGD:735736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 11788749 LEF1 lymphoid enhancer binding factor 1 gene DOID:9006294 Congenital Limb Deformities ISO RGD:735736 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Abnormal radial ray morphology PMID:25741868 11788749 LEF1 lymphoid enhancer binding factor 1 gene DOID:9008763 Femoral Fractures ISO RGD:620241 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone PMID:16459154|REF_RGD_ID:2298720 11788749 LEF1 lymphoid enhancer binding factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 11788785 DCANP1 dendritic cell associated nuclear protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605576 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11788785 DCANP1 dendritic cell associated nuclear protein 1 gene DOID:630 genetic disease ISO RGD:1605576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788785 DCANP1 dendritic cell associated nuclear protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11788785 DCANP1 dendritic cell associated nuclear protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605576 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11788850 WHAMM WASP homolog associated with actin, golgi membranes and microtubules gene DOID:13938 amenorrhea ISO RGD:1606472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11788850 WHAMM WASP homolog associated with actin, golgi membranes and microtubules gene DOID:2717 Bloom syndrome ISO RGD:1606472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11788850 WHAMM WASP homolog associated with actin, golgi membranes and microtubules gene DOID:5426 primary ovarian insufficiency ISO RGD:1606472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11788850 WHAMM WASP homolog associated with actin, golgi membranes and microtubules gene DOID:630 genetic disease ISO RGD:1606472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788850 WHAMM WASP homolog associated with actin, golgi membranes and microtubules gene DOID:9256 colorectal cancer ISO RGD:1606472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11788872 HNRNPLL heterogeneous nuclear ribonucleoprotein L like gene DOID:0080690 RASopathy ISO RGD:1353271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11788872 HNRNPLL heterogeneous nuclear ribonucleoprotein L like gene DOID:11211 buphthalmos ISO RGD:1353271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital glaucoma PMID:19234632|PMID:28492532|PMID:31251480|PMID:9097971|PMID:9497261 11788872 HNRNPLL heterogeneous nuclear ribonucleoprotein L like gene DOID:3883 Lynch syndrome ISO RGD:1353271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11788872 HNRNPLL heterogeneous nuclear ribonucleoprotein L like gene DOID:630 genetic disease ISO RGD:1353271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788893 PSME3IP1 proteasome activator subunit 3 interacting protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605044 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11788893 PSME3IP1 proteasome activator subunit 3 interacting protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605044 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11788893 PSME3IP1 proteasome activator subunit 3 interacting protein 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11788893 PSME3IP1 proteasome activator subunit 3 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1605044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788934 CCDC181 coiled-coil domain containing 181 gene DOID:1540 parathyroid carcinoma ISO RGD:1602471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11788934 CCDC181 coiled-coil domain containing 181 gene DOID:630 genetic disease ISO RGD:1602471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788934 CCDC181 coiled-coil domain containing 181 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1602471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 11788934 CCDC181 coiled-coil domain containing 181 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11788945 SPINK13 serine peptidase inhibitor Kazal type 13 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:2949691 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11788945 SPINK13 serine peptidase inhibitor Kazal type 13 gene DOID:630 genetic disease ISO RGD:2949691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788945 SPINK13 serine peptidase inhibitor Kazal type 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2949691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11788945 SPINK13 serine peptidase inhibitor Kazal type 13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:2949691 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11788960 PPIH peptidylprolyl isomerase H gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1347300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11788960 PPIH peptidylprolyl isomerase H gene DOID:630 genetic disease ISO RGD:1347300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11788977 CNIH2 cornichon family AMPA receptor auxiliary protein 2 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1352659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 11788977 CNIH2 cornichon family AMPA receptor auxiliary protein 2 gene DOID:1059 intellectual disability ISO RGD:1352659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11788977 CNIH2 cornichon family AMPA receptor auxiliary protein 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1352659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11788977 CNIH2 cornichon family AMPA receptor auxiliary protein 2 gene DOID:2746 glycogen storage disease V ISO RGD:1352659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11788977 CNIH2 cornichon family AMPA receptor auxiliary protein 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1352659 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11788977 CNIH2 cornichon family AMPA receptor auxiliary protein 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1352659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11788986 SLC35B1 solute carrier family 35 member B1 gene DOID:630 genetic disease ISO RGD:1351742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789008 ZFYVE9 zinc finger FYVE-type containing 9 gene DOID:630 genetic disease ISO RGD:1321999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789024 FKBP8 FKBP prolyl isomerase 8 gene DOID:0080016 spina bifida ISO RGD:1318579 D RGD:9068941 20220825 MouseDO 11789024 FKBP8 FKBP prolyl isomerase 8 gene DOID:11836 clubfoot ISO RGD:1318579 D RGD:9068941 20220825 MouseDO OMIM:119800 11789024 FKBP8 FKBP prolyl isomerase 8 gene DOID:630 genetic disease ISO RGD:1318578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789024 FKBP8 FKBP prolyl isomerase 8 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1318578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11789024 FKBP8 FKBP prolyl isomerase 8 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1318578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11789051 CPVL carboxypeptidase vitellogenic like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11789051 CPVL carboxypeptidase vitellogenic like gene DOID:630 genetic disease ISO RGD:1345667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789078 SULT1E1 sulfotransferase family 1E member 1 gene DOID:12351 alcoholic hepatitis ISO RGD:1351097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26220752 11789078 SULT1E1 sulfotransferase family 1E member 1 gene DOID:1380 endometrial cancer ISO RGD:1351097 D RGD:9068941 20200609 RGD DNA:SNP:haplotype:rs3736599 (GA+AA) combined with SULT1A1 SNP rs9282861 (GA + AA) or with CYP1A1 SNP rs4646903 (TT) PMID:18318428|REF_RGD_ID:2301040 11789078 SULT1E1 sulfotransferase family 1E member 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1351097 D RGD:9068941 20200609 RGD DNA:SNP:intron, 3' utr:IVS4-1653T>C, *959G>A PMID:15894657|REF_RGD_ID:1581439 11789078 SULT1E1 sulfotransferase family 1E member 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1351097 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-64G>A PMID:17372239|REF_RGD_ID:2302563 11789078 SULT1E1 sulfotransferase family 1E member 1 gene DOID:409 liver disease ISO RGD:1351097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25922074 11789078 SULT1E1 sulfotransferase family 1E member 1 gene DOID:630 genetic disease ISO RGD:1351097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789078 SULT1E1 sulfotransferase family 1E member 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:3776 D RGD:9068941 20200609 RGD associated with Colonic Neoplasms;protein:increased expression:liver PMID:16895976|REF_RGD_ID:2302565 11789078 SULT1E1 sulfotransferase family 1E member 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1351097 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11789078 SULT1E1 sulfotransferase family 1E member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 11789078 SULT1E1 sulfotransferase family 1E member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11789078 SULT1E1 sulfotransferase family 1E member 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1351097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25922074 11789078 SULT1E1 sulfotransferase family 1E member 1 gene DOID:9004009 Reperfusion Injury ISO RGD:3776 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16908442|REF_RGD_ID:2302564 11789078 SULT1E1 sulfotransferase family 1E member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11789090 WDR6 WD repeat domain 6 gene DOID:630 genetic disease ISO RGD:1316962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789090 WDR6 WD repeat domain 6 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1316962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11789090 WDR6 WD repeat domain 6 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1316962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11789090 WDR6 WD repeat domain 6 gene DOID:9007661 Dwarfism ISO RGD:1316962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11789100 TRIM72 tripartite motif containing 72 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1603795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11789100 TRIM72 tripartite motif containing 72 gene DOID:630 genetic disease ISO RGD:1603795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789110 TEAD3 TEA domain transcription factor 3 gene DOID:0050553 JMP syndrome ISO RGD:1323117 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11789110 TEAD3 TEA domain transcription factor 3 gene DOID:0110381 retinitis pigmentosa 14 ISO RGD:1323117 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 14 PMID:25741868|PMID:26427415|PMID:28492532|PMID:9462750 11789110 TEAD3 TEA domain transcription factor 3 gene DOID:630 genetic disease ISO RGD:1323117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789110 TEAD3 TEA domain transcription factor 3 gene DOID:8501 fundus dystrophy ISO RGD:1323117 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:26427415|PMID:28492532|PMID:9462750 11789132 CCDC82 coiled-coil domain containing 82 gene DOID:0050888 syndromic intellectual disability ISO RGD:1602861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:28397838|PMID:35118659 11789132 CCDC82 coiled-coil domain containing 82 gene DOID:1059 intellectual disability ISO RGD:1602861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11789132 CCDC82 coiled-coil domain containing 82 gene DOID:12704 ataxia telangiectasia ISO RGD:1602861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11789132 CCDC82 coiled-coil domain containing 82 gene DOID:630 genetic disease ISO RGD:1602861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789165 KCNIP1 potassium voltage-gated channel interacting protein 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:732298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy 11789165 KCNIP1 potassium voltage-gated channel interacting protein 1 gene DOID:630 genetic disease ISO RGD:732298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789165 KCNIP1 potassium voltage-gated channel interacting protein 1 gene DOID:9008282 Diastolic Hypertension, Resistance to ISO RGD:732298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertension, diastolic, resistance to PMID:15057310|PMID:16155733 11789185 BCDIN3D BCDIN3 domain containing RNA methyltransferase gene DOID:13501 Moebius syndrome ISO RGD:1601723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum PMID:28492532 11789185 BCDIN3D BCDIN3 domain containing RNA methyltransferase gene DOID:630 genetic disease ISO RGD:1601723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789191 R3HDML R3H domain containing like gene DOID:2234 focal epilepsy ISO RGD:1313241 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11789191 R3HDML R3H domain containing like gene DOID:630 genetic disease ISO RGD:1313241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789191 R3HDML R3H domain containing like gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1313241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11789198 LOC100977552 sodium/bile acid cotransporter 5 gene DOID:630 genetic disease ISO RGD:1314423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789204 VIP vasoactive intestinal peptide gene DOID:0060180 colitis ISO RGD:732375 D RGD:9068941 20200609 RGD associated with Gram-Negative Bacterial Infections PMID:19661153|REF_RGD_ID:5685605 11789204 VIP vasoactive intestinal peptide gene DOID:0080855 Parkinsonism ISO RGD:621647 D RGD:9068941 20200609 RGD PMID:15808913|REF_RGD_ID:5685601 11789204 VIP vasoactive intestinal peptide gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:1348931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:28492532 11789204 VIP vasoactive intestinal peptide gene DOID:1059 intellectual disability ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11357950 11789204 VIP vasoactive intestinal peptide gene DOID:11832 visual epilepsy ISO RGD:621647 D RGD:9068941 20200609 RGD PMID:20369387|REF_RGD_ID:5685634 11789204 VIP vasoactive intestinal peptide gene DOID:12849 autistic disorder ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17521630 11789204 VIP vasoactive intestinal peptide gene DOID:12894 Sjogren's syndrome ISO RGD:732375 D RGD:9068941 20200609 RGD PMID:22059987|REF_RGD_ID:5685375 11789204 VIP vasoactive intestinal peptide gene DOID:13141 uveitis ISO RGD:621647 D RGD:9068941 20200609 RGD PMID:19232006|REF_RGD_ID:4889998 11789204 VIP vasoactive intestinal peptide gene DOID:13406 pulmonary sarcoidosis ISO RGD:1348931 D RGD:9068941 20200609 RGD PMID:20442436|REF_RGD_ID:5685623 11789204 VIP vasoactive intestinal peptide gene DOID:14250 Down syndrome ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16289943 11789204 VIP vasoactive intestinal peptide gene DOID:14250 Down syndrome ISO RGD:732375 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:19037032|REF_RGD_ID:5685613 11789204 VIP vasoactive intestinal peptide gene DOID:14330 Parkinson's disease ISO RGD:1348931 D RGD:9068941 20200609 RGD PMID:19476518|REF_RGD_ID:5685606 11789204 VIP vasoactive intestinal peptide gene DOID:14557 primary pulmonary hypertension ISO RGD:732375 D RGD:9068941 20220825 MouseDO OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 11789204 VIP vasoactive intestinal peptide gene DOID:1561 cognitive disorder ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8208360 11789204 VIP vasoactive intestinal peptide gene DOID:1875 impotence ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10233493 11789204 VIP vasoactive intestinal peptide gene DOID:2316 brain ischemia ISO RGD:621647 D RGD:9068941 20200609 RGD PMID:18158987|REF_RGD_ID:5685617 11789204 VIP vasoactive intestinal peptide gene DOID:2841 asthma ISO RGD:621647 D RGD:9068941 20200609 RGD PMID:21419198|REF_RGD_ID:5685381 11789204 VIP vasoactive intestinal peptide gene DOID:2841 asthma ISO RGD:732375 D RGD:9068941 20200609 RGD PMID:16782752|REF_RGD_ID:5685620 11789204 VIP vasoactive intestinal peptide gene DOID:289 endometriosis ISO RGD:1348931 D RGD:9068941 20200609 RGD PMID:18928861|REF_RGD_ID:5685615 11789204 VIP vasoactive intestinal peptide gene DOID:365 bladder disease ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18299998 11789204 VIP vasoactive intestinal peptide gene DOID:4483 rhinitis ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12746121|PMID:14680090 11789204 VIP vasoactive intestinal peptide gene DOID:4677 keratitis ISO RGD:732375 D RGD:9068941 20200609 RGD PMID:21666233|REF_RGD_ID:5685380 11789204 VIP vasoactive intestinal peptide gene DOID:630 genetic disease ISO RGD:1348931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789204 VIP vasoactive intestinal peptide gene DOID:6432 pulmonary hypertension ISO RGD:621647 D RGD:9068941 20200609 RGD PMID:22140628|REF_RGD_ID:5685374 11789204 VIP vasoactive intestinal peptide gene DOID:6432 pulmonary hypertension ISO RGD:732375 D RGD:9068941 20200609 RGD PMID:22140628|REF_RGD_ID:5685374 11789204 VIP vasoactive intestinal peptide gene DOID:7147 ankylosing spondylitis ISO RGD:1348931 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20340024|REF_RGD_ID:5685387 11789204 VIP vasoactive intestinal peptide gene DOID:824 periodontitis ISO RGD:621647 D RGD:9068941 20200609 RGD PMID:19792856|REF_RGD_ID:5685624 11789204 VIP vasoactive intestinal peptide gene DOID:8577 ulcerative colitis severity ISO RGD:1348931 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon PMID:22143367|REF_RGD_ID:5685619 11789204 VIP vasoactive intestinal peptide gene DOID:9000197 Edema ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7508328 11789204 VIP vasoactive intestinal peptide gene DOID:9000641 Pain ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9920454 11789204 VIP vasoactive intestinal peptide gene DOID:9000722 Animal Hepatitis ISO RGD:732375 D RGD:9068941 20200609 RGD PMID:19222997|REF_RGD_ID:5685610 11789204 VIP vasoactive intestinal peptide gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15127121|PMID:15144609 11789204 VIP vasoactive intestinal peptide gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19189304 11789204 VIP vasoactive intestinal peptide gene DOID:9001048 Nociceptive Pain ISO RGD:621647 D RGD:9068941 20200609 RGD PMID:19467283|REF_RGD_ID:5685608 11789204 VIP vasoactive intestinal peptide gene DOID:9002211 Hyperalgesia ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12787826 11789204 VIP vasoactive intestinal peptide gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19189304 11789204 VIP vasoactive intestinal peptide gene DOID:9002457 Experimental Arthritis ISO RGD:621647 D RGD:9068941 20200609 RGD PMID:19055696|REF_RGD_ID:5685612 11789204 VIP vasoactive intestinal peptide gene DOID:9002457 Experimental Arthritis ISO RGD:732375 D RGD:9068941 20200609 RGD PMID:21998117|REF_RGD_ID:5685376 11789204 VIP vasoactive intestinal peptide gene DOID:9002554 Tachycardia ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3261545 11789204 VIP vasoactive intestinal peptide gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:732375 D RGD:9068941 20200609 RGD PMID:20978211|REF_RGD_ID:5685386 11789204 VIP vasoactive intestinal peptide gene DOID:9004009 Reperfusion Injury ISO RGD:732375 D RGD:9068941 20200609 RGD PMID:21693218|REF_RGD_ID:5685379 11789204 VIP vasoactive intestinal peptide gene DOID:9004610 Acute Lung Injury ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8643465 11789204 VIP vasoactive intestinal peptide gene DOID:9004610 Acute Lung Injury ISO RGD:621647 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:20441697|REF_RGD_ID:4145303 11789204 VIP vasoactive intestinal peptide gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732375 D RGD:9068941 20200609 RGD PMID:21129425|REF_RGD_ID:5685622 11789204 VIP vasoactive intestinal peptide gene DOID:9006024 Hypotension ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9881641 11789204 VIP vasoactive intestinal peptide gene DOID:9007402 Gliosis ISO RGD:732375 D RGD:9068941 20200609 RGD PMID:21281617|REF_RGD_ID:5685382 11789204 VIP vasoactive intestinal peptide gene DOID:9007763 Flushing ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10233493 11789204 VIP vasoactive intestinal peptide gene DOID:9008114 Helicobacter Infections ISO RGD:732375 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord, stomach PMID:19906107|REF_RGD_ID:5685602 11789204 VIP vasoactive intestinal peptide gene DOID:9744 type 1 diabetes mellitus ISO RGD:732375 D RGD:9068941 20200609 RGD PMID:20309012|REF_RGD_ID:5685388 11789225 GEMIN5 gem nuclear organelle associated protein 5 gene DOID:4990 essential tremor ISO RGD:1321352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 11789225 GEMIN5 gem nuclear organelle associated protein 5 gene DOID:630 genetic disease ISO RGD:1321352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:33963192|PMID:35295849 11789225 GEMIN5 gem nuclear organelle associated protein 5 gene DOID:9000830 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION ISO RGD:1321352 D RGD:7240710 20210818 OMIM 11789225 GEMIN5 gem nuclear organelle associated protein 5 gene DOID:9000830 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION ISO RGD:1321352 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction PMID:25741868|PMID:28492532|PMID:33963192 11789258 PKIB cAMP-dependent protein kinase inhibitor beta gene DOID:1826 epilepsy ISO RGD:736855 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11789258 PKIB cAMP-dependent protein kinase inhibitor beta gene DOID:630 genetic disease ISO RGD:736855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789292 APOL6 apolipoprotein L6 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1353798 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11789292 APOL6 apolipoprotein L6 gene DOID:630 genetic disease ISO RGD:1353798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789292 APOL6 apolipoprotein L6 gene DOID:9001488 Human Influenza ISO RGD:1353798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11789299 GPR171 G protein-coupled receptor 171 gene DOID:0050579 glycogen storage disease XV ISO RGD:1353149 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 11789299 GPR171 G protein-coupled receptor 171 gene DOID:630 genetic disease ISO RGD:1353149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789302 NUP188 nucleoporin 188 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1348104 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11789302 NUP188 nucleoporin 188 gene DOID:0080565 congenital disorder of glycosylation Im ISO RGD:1348104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1M 11789302 NUP188 nucleoporin 188 gene DOID:0081272 Sandestig-Stefanova syndrome ISO RGD:1348104 D RGD:7240710 20200318 OMIM 11789302 NUP188 nucleoporin 188 gene DOID:0081272 Sandestig-Stefanova syndrome ISO RGD:1348104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sandestig-stefanova syndrome PMID:24033266|PMID:25741868|PMID:32021605|PMID:32275884 11789302 NUP188 nucleoporin 188 gene DOID:10907 microcephaly ISO RGD:1348104 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:32275884 11789302 NUP188 nucleoporin 188 gene DOID:11162 respiratory failure ISO RGD:1348104 D RGD:9068941 20230330 RGD DNA:frameshift mutations, nonsense mutations:CDS:multiple (human) PMID:32275884|REF_RGD_ID:243048418 11789302 NUP188 nucleoporin 188 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1348104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 11789302 NUP188 nucleoporin 188 gene DOID:630 genetic disease ISO RGD:1348104 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11789358 MYO5C myosin VC gene DOID:2717 Bloom syndrome ISO RGD:1320640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11789358 MYO5C myosin VC gene DOID:303 substance-related disorder ISO RGD:1320640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11789358 MYO5C myosin VC gene DOID:607 paraplegia ISO RGD:1320640 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 11789358 MYO5C myosin VC gene DOID:630 genetic disease ISO RGD:1320640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789358 MYO5C myosin VC gene DOID:9256 colorectal cancer ISO RGD:1320640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11789407 ZFP90 ZFP90 zinc finger protein gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1350266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11789407 ZFP90 ZFP90 zinc finger protein gene DOID:630 genetic disease ISO RGD:1350266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789453 SLC10A4 solute carrier family 10 member 4 gene DOID:630 genetic disease ISO RGD:1319926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789460 GUCY2F guanylate cyclase 2F, retinal gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:731765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 11789460 GUCY2F guanylate cyclase 2F, retinal gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11789460 GUCY2F guanylate cyclase 2F, retinal gene DOID:12849 autistic disorder ISO RGD:731765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11789460 GUCY2F guanylate cyclase 2F, retinal gene DOID:630 genetic disease ISO RGD:731765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789460 GUCY2F guanylate cyclase 2F, retinal gene DOID:8466 retinal degeneration ISO RGD:731766 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina: PMID:15718098|REF_RGD_ID:10045823 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:0050848 obstructive sleep apnea ISO RGD:632283 D RGD:9068941 20200609 RGD protein:decreased expression:growth plate: PMID:26943473|REF_RGD_ID:11573409 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:0060180 colitis ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19617644 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:730950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:0080011 bone resorption disease ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29477364 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:0080074 neural tube defect ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17400914 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:10808 gastric ulcer ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15177919|PMID:16259727 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:11981 morbid obesity ISO RGD:730950 D RGD:9068941 20200609 RGD PMID:19188925|REF_RGD_ID:2313745 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:11983 Prader-Willi syndrome ISO RGD:730950 D RGD:9068941 20200609 RGD PMID:15057669|REF_RGD_ID:12905043 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:1287 cardiovascular system disease ISO RGD:730950 D RGD:9068941 20200609 RGD In dialysis patients PMID:20930430|REF_RGD_ID:7242429 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:1596 depressive disorder ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19272368 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:299 adenocarcinoma ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:3021 acute kidney failure ISO RGD:732655 D RGD:9068941 20200609 RGD PMID:19625378|REF_RGD_ID:7242430 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:3125 multiple endocrine neoplasia ISO RGD:632283 D RGD:9068941 20200609 RGD protein:increased expression:pancreas,serum: PMID:26512025|REF_RGD_ID:12904888 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:632283 D RGD:9068941 20200609 RGD PMID:19352052|REF_RGD_ID:9850083 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:730950 D RGD:9068941 20210521 RGD DNA:SNP:5'utr: (rs696217) (human) PMID:21472143|REF_RGD_ID:126925218 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:6000 congestive heart failure ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20572026 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:630 genetic disease ISO RGD:730950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:783 end stage renal disease ISO RGD:730950 D RGD:9068941 20200609 RGD PMID:18809976|REF_RGD_ID:7242553 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:8577 ulcerative colitis ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19617644 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:9000117 Esophageal Neoplasms ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:9000888 Pregnancy in Diabetics ISO RGD:730950 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:plasma PMID:19046237|REF_RGD_ID:2313747 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:9002231 Fetal Growth Retardation disease_progression ISO RGD:632283 D RGD:9068941 20200609 RGD PMID:20637157|REF_RGD_ID:12904883 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:9002661 Diabetes Complications ISO RGD:730950 D RGD:9068941 20200609 RGD protein: decreased expression: serum PMID:18025762|REF_RGD_ID:7242563 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:632283 D RGD:9068941 20200609 RGD PMID:19620309|REF_RGD_ID:12905041 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:632283 D RGD:9068941 20200609 RGD PMID:21642627|REF_RGD_ID:12904963 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:9002955 Nerve Degeneration ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19429016 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:9003139 Cardiac Fibrosis disease_progression ISO RGD:632283 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:plasma,myocardia: PMID:16626506|REF_RGD_ID:12907503 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:730950 D RGD:9068941 20200609 RGD PMID:16626506|REF_RGD_ID:12907503 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:9004009 Reperfusion Injury ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16581065 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:9004484 Sepsis ISO RGD:632283 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:aorta,heart, intestine, plasma: PMID:15155262|REF_RGD_ID:12905047 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:9004657 Weight Gain ISO RGD:730950 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:16493877|PMID:33301842 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17407494 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732655 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18657539|REF_RGD_ID:2313750 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:9005643 Experimental Diabetes Mellitus disease_progression ISO RGD:632283 D RGD:9068941 20200609 RGD PMID:23965296|REF_RGD_ID:12905048 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:9006646 Metabolic Syndrome ISO RGD:730950 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to PMID:11502844|PMID:12050239|PMID:12161552|PMID:16204371|PMID:25741868 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:9007102 Myocardial Ischemia disease_progression ISO RGD:632283 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:plasma,myocardia: PMID:16626506|REF_RGD_ID:12907503 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:730950 D RGD:9068941 20200609 RGD PMID:16626506|REF_RGD_ID:12907503 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:9007346 Cachexia ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17347304 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:9007346 Cachexia ISO RGD:730950 D RGD:9068941 20200609 RGD PMID:12576449|REF_RGD_ID:7242556 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:9007661 Dwarfism ISO RGD:730950 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:20861603|REF_RGD_ID:12904881 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:730950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:730950 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.L72M (human) PMID:18848536|REF_RGD_ID:2313749 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:9743 diabetic neuropathy ISO RGD:730950 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19733151|REF_RGD_ID:2313744 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:9970 obesity ISO RGD:730950 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, age at onset of PMID:11502844|PMID:12050239|PMID:12161552|PMID:16204371|PMID:25741868 11789485 GHRL ghrelin and obestatin prepropeptide gene DOID:9970 obesity susceptibility ISO RGD:730950 D RGD:7240710 20230505 OMIM 11789503 RBM42 RNA binding motif protein 42 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1601847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11789503 RBM42 RNA binding motif protein 42 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1601847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11789503 RBM42 RNA binding motif protein 42 gene DOID:543 dystonia ISO RGD:1601847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11789503 RBM42 RNA binding motif protein 42 gene DOID:630 genetic disease ISO RGD:1601847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789524 KLHDC7A kelch domain containing 7A gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606164 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11789524 KLHDC7A kelch domain containing 7A gene DOID:630 genetic disease ISO RGD:1606164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789524 KLHDC7A kelch domain containing 7A gene DOID:9008939 Breast Neoplasms ISO RGD:1606164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 11789529 SCAMP1 secretory carrier membrane protein 1 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:731550 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 11789529 SCAMP1 secretory carrier membrane protein 1 gene DOID:12800 mucopolysaccharidosis VI ISO RGD:731550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 PMID:10036316|PMID:17458871|PMID:18486607|PMID:28492532 11789529 SCAMP1 secretory carrier membrane protein 1 gene DOID:630 genetic disease ISO RGD:731550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789529 SCAMP1 secretory carrier membrane protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11789542 OSGEP O-sialoglycoprotein endopeptidase gene DOID:0080245 Galloway-Mowat syndrome 3 ISO RGD:1318432 D RGD:7240710 20190315 OMIM 11789542 OSGEP O-sialoglycoprotein endopeptidase gene DOID:0080245 Galloway-Mowat syndrome 3 ISO RGD:1318432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 PMID:11519896|PMID:15966048|PMID:17897280|PMID:18019379|PMID:21791310|PMID:25741868|PMID:28272532|PMID:28492532|PMID:28805828|PMID:29127259|PMID:30141175|PMID:31564459|PMID:33333793|PMID:33532864 11789542 OSGEP O-sialoglycoprotein endopeptidase gene DOID:0080694 Galloway-Mowat syndrome ISO RGD:1318432 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome PMID:17897280|PMID:25741868|PMID:28272532|PMID:28805828 11789542 OSGEP O-sialoglycoprotein endopeptidase gene DOID:1184 nephrotic syndrome ISO RGD:1318432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:11519896|PMID:15966048|PMID:18019379|PMID:21791310|PMID:25741868|PMID:28492532|PMID:28805828|PMID:29127259|PMID:31564459|PMID:33333793 11789542 OSGEP O-sialoglycoprotein endopeptidase gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1318432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 11789542 OSGEP O-sialoglycoprotein endopeptidase gene DOID:630 genetic disease ISO RGD:1318432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28272532|PMID:28492532|PMID:28805828|PMID:30141175 11789576 CCDC116 coiled-coil domain containing 116 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1602289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 11789576 CCDC116 coiled-coil domain containing 116 gene DOID:11198 DiGeorge syndrome ISO RGD:1602289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 11789576 CCDC116 coiled-coil domain containing 116 gene DOID:1324 lung cancer ISO RGD:1602289 D RGD:9068941 20220721 RGD DNA:SNP:promoter:rs3747093 (human) PMID:29193083|REF_RGD_ID:153297750 11789576 CCDC116 coiled-coil domain containing 116 gene DOID:630 genetic disease ISO RGD:1602289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome ISO RGD:1318463 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 | ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA PMID:11404820|PMID:14985401|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16912137|PMID:17102082|PMID:17102083|PMID:17298551|PMID:17376234|PMID:17639058|PMID:17987308|PMID:18551016|PMID:18678321|PMID:19368708|PMID:19399650|PMID:19454582|PMID:19802898|PMID:20923864|PMID:21979946|PMID:22517554|PMID:22703879|PMID:22995128|PMID:22995991|PMID:23072324|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24728327|PMID:25333069|PMID:25694510|PMID:25741868|PMID:26092435|PMID:26467025|PMID:27604842|PMID:28492532|PMID:30152102|PMID:30155846|PMID:30877234 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:0050771 pheochromocytoma ISO RGD:1318463 D RGD:7240710 20180130 OMIM 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:0050771 pheochromocytoma ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27896548|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30487145|PMID:30694796|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34072806|PMID:34309460|PMID:34439168|PMID:34906457|PMID:34939938|PMID:490809|PMID:9509062|PMID:9536098 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:0050773 paraganglioma ISO RGD:1318463 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma PMID:11404820|PMID:11897817|PMID:12000816|PMID:12205103|PMID:12213855|PMID:12351569|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14643060|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15883710|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16001332|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30201732|PMID:30352407|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32741965|PMID:32863293|PMID:33300499|PMID:33397040|PMID:33558524|PMID:34906457|PMID:490809|PMID:9509062|PMID:9536098 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:0050773 paraganglioma ISO RGD:1318463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26370861|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34439168|PMID:34906457|PMID:490809|PMID:9509062|PMID:9536098 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:0050773 paraganglioma ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26370861|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30487145|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34072806|PMID:34439168|PMID:34906457|PMID:34939938|PMID:490809|PMID:9509062|PMID:9536098 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:0060537 mitochondrial complex II deficiency ISO RGD:1318463 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mitochondrial complex II deficiency PMID:17634472|PMID:22972948|PMID:26642834|PMID:26925370|PMID:27159321|PMID:27604842|PMID:28492532|PMID:34052969 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1318463 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Multiple hamartoma syndrome PMID:11404820|PMID:14985401|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16912137|PMID:17102082|PMID:17102083|PMID:17298551|PMID:17376234|PMID:17639058|PMID:17987308|PMID:18551016|PMID:18678321|PMID:19368708|PMID:19399650|PMID:19454582|PMID:19802898|PMID:21979946|PMID:22517554|PMID:22703879|PMID:22995128|PMID:22995991|PMID:23072324|PMID:23666964|PMID:24033266|PMID:24728327|PMID:25333069|PMID:25694510|PMID:25741868|PMID:26092435|PMID:27604842|PMID:28492532|PMID:30155846|PMID:30877234 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1318463 D RGD:7240710 20180130 OMIM 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1318463 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome | ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor PMID:11404820|PMID:11897817|PMID:12362046|PMID:12364472|PMID:12618761|PMID:14500403|PMID:14715873|PMID:14985401|PMID:15328326|PMID:15383933|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:17102082|PMID:17102083|PMID:17200167|PMID:17298551|PMID:17376234|PMID:17487275|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17943698|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18840642|PMID:19215943|PMID:19258401|PMID:19351833|PMID:19368708|PMID:19399650|PMID:19411806|PMID:19454582|PMID:19576851|PMID:19694205|PMID:19802898|PMID:19825962|PMID:20208144|PMID:20418362|PMID:20459544|PMID:20540712|PMID:20592014|PMID:20614293|PMID:20923864|PMID:21348866|PMID:21565294|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22270996|PMID:22517554|PMID:22703879|PMID:22835832|PMID:22995991|PMID:23072324|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23512077|PMID:23660872|PMID:23666964|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24466223|PMID:24509376|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24939699|PMID:25047027|PMID:25326637|PMID:25333069|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25741868|PMID:25972245|PMID:26092435|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26719882|PMID:27171833|PMID:27539324|PMID:27573198|PMID:27604842|PMID:28324028|PMID:28374168|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30152102|PMID:30201732|PMID:31492822|PMID:31666924|PMID:32741965|PMID:32963463|PMID:33300499|PMID:33362715|PMID:34439168|PMID:34906457|PMID:9509062 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:1612 breast cancer ISO RGD:1318463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:14985401|PMID:16322339|PMID:16912137|PMID:17102082|PMID:17102083|PMID:17298551|PMID:17639058|PMID:18551016|PMID:18678321|PMID:19368708|PMID:19399650|PMID:19802898|PMID:21979946|PMID:22703879|PMID:22995991|PMID:23666964|PMID:24728327|PMID:25333069|PMID:25694510|PMID:25741868|PMID:26092435|PMID:28492532 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:2394 ovarian cancer ISO RGD:1318463 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:23780556|PMID:25741868|PMID:28492532 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:4450 renal cell carcinoma ISO RGD:1318463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:18728283|PMID:19576851|PMID:22835832|PMID:24055113|PMID:24092654|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26467025|PMID:28374168|PMID:28492532|PMID:30050099|PMID:34906457 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:630 genetic disease ISO RGD:1318463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14685938|PMID:15987702|PMID:17634472|PMID:28492532 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:6457 Cowden syndrome ISO RGD:1318463 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cowden syndrome | ClinVar Annotator: match by term: Cowden's syndrome PMID:11404820|PMID:14985401|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16912137|PMID:17102082|PMID:17102083|PMID:17298551|PMID:17376234|PMID:17639058|PMID:17987308|PMID:18551016|PMID:18678321|PMID:19368708|PMID:19399650|PMID:19454582|PMID:19802898|PMID:21979946|PMID:22517554|PMID:22703879|PMID:22995128|PMID:22995991|PMID:23072324|PMID:23660872|PMID:23666964|PMID:24033266|PMID:24728327|PMID:25333069|PMID:25694510|PMID:25741868|PMID:26092435|PMID:26269449|PMID:26729832|PMID:27604842|PMID:28229225|PMID:28492532|PMID:30155846|PMID:30877234|PMID:34309460 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:6741 bilateral breast cancer ISO RGD:1318463 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: bilateral breast cancer PMID:17102082|PMID:19351833|PMID:20208144|PMID:21520333|PMID:23175444|PMID:25741868|PMID:26102504|PMID:26269449|PMID:28492532|PMID:31216007|PMID:33558524 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:7400 Nijmegen breakage syndrome ISO RGD:1318463 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ataxia telangiectasia variant V1 PMID:15987702|PMID:16288654|PMID:16317055|PMID:16912137|PMID:16916404|PMID:17200167|PMID:17667967|PMID:17884808|PMID:19001511|PMID:19215943|PMID:19802898|PMID:21820839|PMID:23282968|PMID:24033266|PMID:25371406|PMID:25677497|PMID:25683602|PMID:25741868|PMID:25972245|PMID:26173966|PMID:26467025|PMID:26916530|PMID:28070496|PMID:28152038|PMID:28349240|PMID:28374168|PMID:28492532|PMID:28738844|PMID:28873162|PMID:29386252 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9002162 Carotid Body Tumor ISO RGD:1318463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carotid body tumor PMID:18728283|PMID:19576851|PMID:22835832|PMID:24055113|PMID:24092654|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26467025|PMID:28374168|PMID:28492532|PMID:30050099|PMID:34906457 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9002265 Kidney Neoplasms ISO RGD:1318463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal neoplasm PMID:19261679|PMID:22241717|PMID:25720320|PMID:25741868|PMID:28492532|PMID:30050099 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9003055 Mitochondrial Complex II Deficiency Nuclear Type 1 ISO RGD:1318463 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 PMID:17634472|PMID:22972948|PMID:26642834|PMID:26925370|PMID:27159321|PMID:27604842|PMID:28492532|PMID:34052969 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9003626 Paragangliomas 3 ISO RGD:1318463 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23666964|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25677497|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32124427|PMID:32741965|PMID:32863293|PMID:33300499|PMID:33397040|PMID:33558524|PMID:34906457|PMID:490809|PMID:9509062|PMID:9536098 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9003626 Paragangliomas 3 ISO RGD:1318463 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Paragangliomas 3 | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23666964|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34439168|PMID:34906457|PMID:490809|PMID:9509062|PMID:9536098 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9003626 Paragangliomas 3 ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30487145|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34072806|PMID:34439168|PMID:34906457|PMID:34939938|PMID:490809|PMID:9509062|PMID:9536098 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9004224 Mitochondrial Complex II Deficiency Nuclear Type 4 ISO RGD:1318463 D RGD:7240710 20210324 OMIM 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9004224 Mitochondrial Complex II Deficiency Nuclear Type 4 ISO RGD:1318463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4 PMID:11897817|PMID:14500403|PMID:16314641|PMID:16912137|PMID:17200167|PMID:17634472|PMID:17652212|PMID:17848412|PMID:18382370|PMID:18551016|PMID:18678321|PMID:18728283|PMID:19215943|PMID:19258401|PMID:19351833|PMID:19368708|PMID:19454582|PMID:19576851|PMID:20208144|PMID:20592014|PMID:20614293|PMID:22703879|PMID:22835832|PMID:22972948|PMID:23083876|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24509376|PMID:24728327|PMID:24939699|PMID:25637381|PMID:25695889|PMID:25741868|PMID:26259135|PMID:26332594|PMID:26467025|PMID:26642834|PMID:26925370|PMID:27159321|PMID:27539324|PMID:27604842|PMID:28374168|PMID:28492532|PMID:30050099|PMID:32124427|PMID:34052969|PMID:34906457 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30487145|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34072806|PMID:34439168|PMID:34906457|PMID:34939938|PMID:490809|PMID:9509062|PMID:9536098 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26370861|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30201732|PMID:30352407|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:34072806|PMID:34439168|PMID:34906457|PMID:34939938|PMID:490809|PMID:9509062|PMID:9536098 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1318463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:18728283|PMID:19576851|PMID:22835832|PMID:24055113|PMID:24092654|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26467025|PMID:28374168|PMID:28492532|PMID:30050099|PMID:34906457 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11404820|PMID:11897817|PMID:12000816|PMID:12205103|PMID:12213855|PMID:12351569|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14643060|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15883710|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16001332|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23407919|PMID:23512077|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23707781|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25825477|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30549360|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32124427|PMID:32659967|PMID:32741965|PMID:33300499|PMID:33558524|PMID:34906457|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23407919|PMID:23512077|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23707781|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25825477|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30549360|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32124427|PMID:32659967|PMID:32741965|PMID:33300499|PMID:33558524|PMID:34906457|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23407919|PMID:23512077|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23707781|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25677497|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25825477|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30549360|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32124427|PMID:32659967|PMID:32741965|PMID:33300499|PMID:33558524|PMID:34906457|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23407919|PMID:23512077|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23707781|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25825477|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30549360|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32124427|PMID:32659967|PMID:32741965|PMID:33300499|PMID:33558524|PMID:34309460|PMID:34906457|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30549360|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33558524|PMID:34052969|PMID:34309460|PMID:34439168|PMID:34452955|PMID:34906457 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:35171114|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30549360|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33558524|PMID:34052969|PMID:34309460|PMID:34439168|PMID:34452955 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:34906457|PMID:35171114|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30549360|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33558524|PMID:34052969|PMID:34072806|PMID:34255389 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:34309460|PMID:34439168|PMID:34452955|PMID:34906457|PMID:34939938|PMID:35171114|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007167 Carney Triad ISO RGD:1318463 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA PMID:15987702|PMID:16288654|PMID:16317055|PMID:16912137|PMID:16916404|PMID:17200167|PMID:17667967|PMID:17884808|PMID:19001511|PMID:19215943|PMID:19802898|PMID:21820839|PMID:23282968|PMID:24033266|PMID:25371406|PMID:25683602|PMID:25741868|PMID:25972245|PMID:26173966|PMID:26467025|PMID:26916530|PMID:28070496|PMID:28152038|PMID:28349240|PMID:28374168|PMID:28492532|PMID:28738844|PMID:28873162|PMID:29386252 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9008037 Paragangliomas 4 ISO RGD:1318463 D RGD:7240710 20180130 OMIM 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9008037 Paragangliomas 4 ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Paragangliomas 4 | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15531530|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18057081|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261679|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22429592|PMID:22430264|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25827221|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30487145|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34072806|PMID:34439168|PMID:34906457|PMID:34939938|PMID:490809|PMID:9509062|PMID:9536098 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318463 D RGD:7240710 20180130 OMIM 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15476441|PMID:15531530|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18057081|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19029228|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261679|PMID:19261994|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763152|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20307669|PMID:20379037|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22406018|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23154831|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24859990|PMID:24939699|PMID:24977658|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25640679|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26267327|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26729832|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27896548|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28960644|PMID:28973655|PMID:29292578|PMID:29386252|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30549360|PMID:30694796|PMID:30877234 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:31046099|PMID:31104306|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34072806|PMID:34255389|PMID:34309460|PMID:34439168|PMID:34452955|PMID:34906457|PMID:34939938|PMID:35171114|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 11789584 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9352 type 2 diabetes mellitus ISO RGD:1318464 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 11789596 IL20 interleukin 20 gene DOID:0050589 inflammatory bowel disease ISO RGD:1353403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 11789596 IL20 interleukin 20 gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1353403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 11789596 IL20 interleukin 20 gene DOID:12849 autistic disorder ISO RGD:1353403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11789596 IL20 interleukin 20 gene DOID:1540 parathyroid carcinoma ISO RGD:1353403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11789596 IL20 interleukin 20 gene DOID:3021 acute kidney failure ISO RGD:1353403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18496552 11789596 IL20 interleukin 20 gene DOID:630 genetic disease ISO RGD:1353403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789596 IL20 interleukin 20 gene DOID:7148 rheumatoid arthritis ISO RGD:1353403 D RGD:9068941 20200609 RGD PMID:16947773|REF_RGD_ID:5147395 11789596 IL20 interleukin 20 gene DOID:783 end stage renal disease ISO RGD:1353403 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18639518|REF_RGD_ID:5147394 11789596 IL20 interleukin 20 gene DOID:783 end stage renal disease ISO RGD:1583578 D RGD:9068941 20200609 RGD protein:increased expression:multiple organs PMID:18639518|REF_RGD_ID:5147394 11789596 IL20 interleukin 20 gene DOID:8893 psoriasis ISO RGD:1353403 D RGD:9068941 20200609 RGD associated with Respiratory Tract Infections;DNA:SNP:enhancer:-1723C>G (rs1713239) (human) PMID:21109726|REF_RGD_ID:5147391 11789596 IL20 interleukin 20 gene DOID:9002457 Experimental Arthritis ISO RGD:1583578 D RGD:9068941 20200609 RGD PMID:20722035|REF_RGD_ID:5147393 11789596 IL20 interleukin 20 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1353403 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11789596 IL20 interleukin 20 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11789596 IL20 interleukin 20 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1353403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19430480 11789610 OASL 2'-5'-oligoadenylate synthetase like gene DOID:630 genetic disease ISO RGD:1318443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789610 OASL 2'-5'-oligoadenylate synthetase like gene DOID:9001488 Human Influenza ISO RGD:1318443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11789622 ALDOB aldolase, fructose-bisphosphate B gene DOID:1059 intellectual disability ISO RGD:737371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11789622 ALDOB aldolase, fructose-bisphosphate B gene DOID:2048 autoimmune hepatitis ISO RGD:737371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16115720 11789622 ALDOB aldolase, fructose-bisphosphate B gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:737371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency | ClinVar Annotator: match by term: Fructose-biphosphatase deficiency PMID:10024431|PMID:10229688|PMID:10352930|PMID:10625657|PMID:10970798|PMID:11757579|PMID:12205126|PMID:12417303|PMID:12464284|PMID:15532022|PMID:15733923|PMID:15880727|PMID:16199547|PMID:16406649|PMID:16630753|PMID:17576681|PMID:1772121|PMID:18541450|PMID:1856829|PMID:1928090|PMID:1967768|PMID:19768653|PMID:20033295|PMID:20848650|PMID:20882353|PMID:21228398|PMID:2203259|PMID:22375183|PMID:22494545|PMID:22995991|PMID:23114028|PMID:2336380|PMID:23430936|PMID:2349937|PMID:24033266|PMID:25525159|PMID:25595217|PMID:25741868|PMID:25910213|PMID:2623136|PMID:26283345|PMID:26633542|PMID:26677512|PMID:26937407|PMID:27797444|PMID:28492532|PMID:29095814|PMID:29754767|PMID:30675358|PMID:31591370|PMID:32860008|PMID:3383242|PMID:34162028|PMID:34524712|PMID:6348085|PMID:7717389|PMID:8071980|PMID:8096362|PMID:8162030|PMID:8299883|PMID:8299892|PMID:8438046|PMID:8535439|PMID:8541450|PMID:8880583|PMID:9536098|PMID:9610797 11789622 ALDOB aldolase, fructose-bisphosphate B gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:737371 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency | ClinVar Annotator: match by term: Fructose-biphosphatase deficiency PMID:10024431|PMID:10229688|PMID:10352930|PMID:10625657|PMID:10970798|PMID:11757579|PMID:12205126|PMID:12417303|PMID:12464284|PMID:15532022|PMID:15733923|PMID:15880727|PMID:16199547|PMID:16406649|PMID:16630753|PMID:17576681|PMID:1772121|PMID:18541450|PMID:1856829|PMID:1928090|PMID:1967768|PMID:19768653|PMID:20033295|PMID:20848650|PMID:20882353|PMID:21228398|PMID:2203259|PMID:22375183|PMID:22494545|PMID:22995991|PMID:23114028|PMID:2336380|PMID:23430936|PMID:2349937|PMID:24033266|PMID:25525159|PMID:25595217|PMID:25741868|PMID:25910213|PMID:2623136|PMID:26283345|PMID:26633542|PMID:26677512|PMID:26937407|PMID:27797444|PMID:28492532|PMID:29754767|PMID:30675358|PMID:31591370|PMID:32860008|PMID:3383242|PMID:34162028|PMID:34524712|PMID:6348085|PMID:7717389|PMID:8071980|PMID:8096362|PMID:8162030|PMID:8299883|PMID:8299892|PMID:8438046|PMID:8535439|PMID:8541450|PMID:8880583|PMID:9536098|PMID:9610797 11789622 ALDOB aldolase, fructose-bisphosphate B gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:737371 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency | ClinVar Annotator: match by term: Fructose-biphosphatase deficiency PMID:10024431|PMID:10229688|PMID:10352930|PMID:10625657|PMID:10970798|PMID:11757579|PMID:12205126|PMID:12417303|PMID:12464284|PMID:15532022|PMID:15733923|PMID:15880727|PMID:16199547|PMID:16406649|PMID:16630753|PMID:17576681|PMID:1772121|PMID:18541450|PMID:1856829|PMID:1928090|PMID:1967768|PMID:19768653|PMID:20033295|PMID:20848650|PMID:20882353|PMID:21228398|PMID:2203259|PMID:22375183|PMID:22494545|PMID:22995991|PMID:23114028|PMID:2336380|PMID:23430936|PMID:2349937|PMID:24033266|PMID:25525159|PMID:25595217|PMID:25741868|PMID:25910213|PMID:2623136|PMID:26283345|PMID:26633542|PMID:26677512|PMID:26937407|PMID:27797444|PMID:28492532|PMID:29754767|PMID:30675358|PMID:30833214|PMID:31591370|PMID:32860008|PMID:3383242|PMID:34162028|PMID:34524712|PMID:6348085|PMID:7717389|PMID:8071980|PMID:8096362|PMID:8162030|PMID:8299883|PMID:8299892|PMID:8438046|PMID:8535439|PMID:8541450|PMID:8880583|PMID:9536098|PMID:9610797 11789622 ALDOB aldolase, fructose-bisphosphate B gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:737371 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency | ClinVar Annotator: match by term: Fructose-biphosphatase deficiency PMID:10024431|PMID:10229688|PMID:10352930|PMID:10625657|PMID:10970798|PMID:11757579|PMID:12205126|PMID:12417303|PMID:12464284|PMID:15532022|PMID:15733923|PMID:15880727|PMID:16199547|PMID:16406649|PMID:16630753|PMID:17576681|PMID:1772121|PMID:18188031|PMID:18541450|PMID:1856829|PMID:1928090|PMID:1967768|PMID:19768653|PMID:20033295|PMID:20848650|PMID:20882353|PMID:21228398|PMID:2203259|PMID:22375183|PMID:22494545|PMID:22995991|PMID:23114028|PMID:2336380|PMID:23430936|PMID:2349937|PMID:24033266|PMID:25525159|PMID:25595217|PMID:25741868|PMID:25910213|PMID:2623136|PMID:26283345|PMID:26633542|PMID:26677512|PMID:26937407|PMID:27797444|PMID:28492532|PMID:29095814|PMID:29754767|PMID:30675358|PMID:30833214|PMID:31591370|PMID:32860008|PMID:33028743|PMID:3383242|PMID:34162028|PMID:3430936|PMID:34524712|PMID:6348085|PMID:7717389|PMID:8071980|PMID:8096362|PMID:8162030|PMID:8299883|PMID:8299892|PMID:8438046|PMID:8535439|PMID:8541450|PMID:8880583|PMID:9536098|PMID:9610797 11789622 ALDOB aldolase, fructose-bisphosphate B gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:737371 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:10024431|PMID:10229688|PMID:10352930|PMID:10625657|PMID:10970798|PMID:11757579|PMID:12205126|PMID:12417303|PMID:12464284|PMID:15532022|PMID:15733923|PMID:15880727|PMID:16199547|PMID:16406649|PMID:16630753|PMID:17576681|PMID:1772121|PMID:18188031|PMID:18541450|PMID:1856829|PMID:1967768|PMID:19768653|PMID:20033295|PMID:20848650|PMID:20882353|PMID:21228398|PMID:2203259|PMID:22375183|PMID:22494545|PMID:22995991|PMID:23114028|PMID:2336380|PMID:23430936|PMID:2349937|PMID:24033266|PMID:25525159|PMID:25595217|PMID:25741868|PMID:25910213|PMID:2623136|PMID:26283345|PMID:26633542|PMID:26677512|PMID:26937407|PMID:27797444|PMID:28492532|PMID:29095814|PMID:29754767|PMID:30675358|PMID:30833214|PMID:31591370|PMID:32860008|PMID:33028743|PMID:3383242|PMID:34162028|PMID:3430936|PMID:34524712|PMID:6348085|PMID:7717389|PMID:8071980|PMID:8096362|PMID:8162030|PMID:8299883|PMID:8299892|PMID:8438046|PMID:8535439|PMID:8541450|PMID:8880583|PMID:9536098|PMID:9610797 11789622 ALDOB aldolase, fructose-bisphosphate B gene DOID:630 genetic disease ISO RGD:737371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10625657|PMID:10970798|PMID:11757579|PMID:12205126|PMID:12417303|PMID:15880727|PMID:18188031|PMID:18541450|PMID:1967768|PMID:20033295|PMID:20848650|PMID:20882353|PMID:21228398|PMID:22995991|PMID:23430936|PMID:25741868|PMID:26937407|PMID:28492532|PMID:32860008|PMID:33028743|PMID:8071980|PMID:8299883|PMID:8299892|PMID:8880583 11789622 ALDOB aldolase, fructose-bisphosphate B gene DOID:8283 peritonitis ISO RGD:2090 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:8403244|REF_RGD_ID:2313429 11789622 ALDOB aldolase, fructose-bisphosphate B gene DOID:9000217 Stomach Neoplasms ISO RGD:737371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 11789622 ALDOB aldolase, fructose-bisphosphate B gene DOID:9002669 Hypoxia ISO RGD:737371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 11789622 ALDOB aldolase, fructose-bisphosphate B gene DOID:9002882 Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:737371 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:25741868 11789622 ALDOB aldolase, fructose-bisphosphate B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2090 D RGD:9068941 20200609 RGD mRNA:reduced expression:liver, small intestine (rat) PMID:2984252|REF_RGD_ID:2313437 11789622 ALDOB aldolase, fructose-bisphosphate B gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16115720 11789622 ALDOB aldolase, fructose-bisphosphate B gene DOID:916 liver benign neoplasm ISO RGD:2090 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:8264573|REF_RGD_ID:2313432 11789622 ALDOB aldolase, fructose-bisphosphate B gene DOID:9351 diabetes mellitus ISO RGD:10140 D RGD:9068941 20200609 RGD mRNA:reduced expression:pancreatic islet (mouse) PMID:11904435|REF_RGD_ID:2313440 11789622 ALDOB aldolase, fructose-bisphosphate B gene DOID:9352 type 2 diabetes mellitus ISO RGD:737371 D RGD:9068941 20200609 RGD DNA:SNP:intron: (human) PMID:12646233|REF_RGD_ID:2313434 11789622 ALDOB aldolase, fructose-bisphosphate B gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:737371 D RGD:7240710 20180130 OMIM 11789622 ALDOB aldolase, fructose-bisphosphate B gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:737371 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fructose intolerance | ClinVar Annotator: match by term: Fructose-1,6-bisphosphate aldolase B deficiency | ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency | ClinVar Annotator: match by term: Hereditary fructose intolerance PMID:10024431|PMID:10229688|PMID:10352930|PMID:10625657|PMID:10970798|PMID:11757579|PMID:12205126|PMID:12417303|PMID:12464284|PMID:15532022|PMID:15733923|PMID:15880727|PMID:16199547|PMID:16406649|PMID:16630753|PMID:17576681|PMID:1772121|PMID:18188031|PMID:18541450|PMID:1856829|PMID:1967768|PMID:19768653|PMID:20033295|PMID:20848650|PMID:20882353|PMID:21228398|PMID:2203259|PMID:22375183|PMID:22494545|PMID:22995991|PMID:23114028|PMID:2336380|PMID:23430936|PMID:2349937|PMID:24033266|PMID:25525159|PMID:25595217|PMID:25741868|PMID:25910213|PMID:2623136|PMID:26283345|PMID:26633542|PMID:26677512|PMID:26937407|PMID:27797444|PMID:28492532|PMID:29095814|PMID:29754767|PMID:30675358|PMID:30833214|PMID:31591370|PMID:32860008|PMID:33028743|PMID:3383242|PMID:34162028|PMID:3430936|PMID:34524712|PMID:6348085|PMID:7717389|PMID:8071980|PMID:8096362|PMID:8162030|PMID:8299883|PMID:8299892|PMID:8438046|PMID:8535439|PMID:8541450|PMID:8880583|PMID:9536098|PMID:9610797 11789622 ALDOB aldolase, fructose-bisphosphate B gene DOID:9869 hereditary fructose intolerance syndrome susceptibility ISO RGD:737371 D RGD:9068941 20200609 RGD PMID:15532022|REF_RGD_ID:1599063 11789622 Aldob aldolase, fructose-bisphosphate B gene DOID:9352 type 2 diabetes mellitus ISO RGD:2090 D RGD:9068941 20200609 RGD mRNA:decreased expression:soleus (rat) PMID:19106228|REF_RGD_ID:2313414 11789638 ZBTB39 zinc finger and BTB domain containing 39 gene DOID:630 genetic disease ISO RGD:1605102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789643 RABGEF1 RAB guanine nucleotide exchange factor 1 gene DOID:14755 argininosuccinic aciduria ISO RGD:1316404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency PMID:28492532 11789643 RABGEF1 RAB guanine nucleotide exchange factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11789643 RABGEF1 RAB guanine nucleotide exchange factor 1 gene DOID:630 genetic disease ISO RGD:1316404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789665 ERLIN1 ER lipid raft associated 1 gene DOID:0080600 COVID-19 ISO RGD:1344396 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11789665 ERLIN1 ER lipid raft associated 1 gene DOID:0110813 hereditary spastic paraplegia 62 ISO RGD:1344396 D RGD:7240710 20190315 OMIM 11789665 ERLIN1 ER lipid raft associated 1 gene DOID:0110813 hereditary spastic paraplegia 62 ISO RGD:1344396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 62 PMID:16199547|PMID:17576681|PMID:24482476|PMID:25741868|PMID:28492532|PMID:9536098 11789665 ERLIN1 ER lipid raft associated 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1344396 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11789665 ERLIN1 ER lipid raft associated 1 gene DOID:630 genetic disease ISO RGD:1344396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11789665 ERLIN1 ER lipid raft associated 1 gene DOID:9000276 Juvenile Amyotrophic Lateral Sclerosis ISO RGD:1344396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis PMID:25741868 11789707 MUSTN1 musculoskeletal, embryonic nuclear protein 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1352078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 11789730 ARHGAP1 Rho GTPase activating protein 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1314470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11789730 ARHGAP1 Rho GTPase activating protein 1 gene DOID:1059 intellectual disability ISO RGD:1314470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11789730 ARHGAP1 Rho GTPase activating protein 1 gene DOID:630 genetic disease ISO RGD:1314470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11789730 ARHGAP1 Rho GTPase activating protein 1 gene DOID:9002644 Premature Aging ISO RGD:1314471 D RGD:9068941 20200609 RGD PMID:17227869|REF_RGD_ID:10043350 11789751 AASS aminoadipate-semialdehyde synthase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11789751 AASS aminoadipate-semialdehyde synthase gene DOID:630 genetic disease ISO RGD:1321929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11789751 AASS aminoadipate-semialdehyde synthase gene DOID:9002075 Saccharopinuria ISO RGD:1321929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Saccharopinuria PMID:25741868|PMID:28492532 11789751 AASS aminoadipate-semialdehyde synthase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11789751 AASS aminoadipate-semialdehyde synthase gene DOID:9274 hyperlysinemia ISO RGD:1321929 D RGD:7240710 20180130 OMIM 11789751 AASS aminoadipate-semialdehyde synthase gene DOID:9274 hyperlysinemia ISO RGD:1321929 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperlysinemia PMID:10775527|PMID:23570448|PMID:23890588|PMID:25741868|PMID:28492532|PMID:934735 11789782 TMEM267 transmembrane protein 267 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11789831 ZNF552 zinc finger protein 552 gene DOID:630 genetic disease ISO RGD:1351619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789841 CYTIP cytohesin 1 interacting protein gene DOID:0060041 autism spectrum disorder ISO RGD:1317500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11789841 CYTIP cytohesin 1 interacting protein gene DOID:630 genetic disease ISO RGD:1317500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789862 LOC100969283 lymphocyte antigen 6 family member G6F gene DOID:0050553 JMP syndrome ISO RGD:1342827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11789862 LOC100969283 lymphocyte antigen 6 family member G6F gene DOID:11372 megacolon ISO RGD:1342827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11789862 LOC100969283 lymphocyte antigen 6 family member G6F gene DOID:630 genetic disease ISO RGD:1342827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789872 SNRPA1 small nuclear ribonucleoprotein polypeptide A' gene DOID:630 genetic disease ISO RGD:1321959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789872 SNRPA1 small nuclear ribonucleoprotein polypeptide A' gene DOID:65 connective tissue disease ISO RGD:1321959 D RGD:9068941 20200609 RGD PMID:2968364|REF_RGD_ID:10448928 11789885 TCF3 transcription factor 3 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1351290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 11789885 TCF3 transcription factor 3 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1351290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19246562 11789885 TCF3 transcription factor 3 gene DOID:0081140 agammaglobulinemia 8A ISO RGD:1351290 D RGD:7240710 20220831 OMIM 11789885 TCF3 transcription factor 3 gene DOID:0081140 agammaglobulinemia 8A ISO RGD:1351290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 8, autosomal dominant PMID:17576681|PMID:21693761|PMID:24216514|PMID:25741868|PMID:28492532|PMID:33905048|PMID:9536098 11789885 TCF3 transcription factor 3 gene DOID:0081143 agammaglobulinemia 8B ISO RGD:1351290 D RGD:7240710 20220831 OMIM 11789885 TCF3 transcription factor 3 gene DOID:0081143 agammaglobulinemia 8B ISO RGD:1351290 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 8b, autosomal recessive PMID:28532655|PMID:30063982 11789885 TCF3 transcription factor 3 gene DOID:0111152 multicentric Castleman disease ISO RGD:1351290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TAFRO syndrome 11789885 TCF3 transcription factor 3 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1351290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 11789885 TCF3 transcription factor 3 gene DOID:10283 prostate cancer severity ISO RGD:1351290 D RGD:9068941 20200609 RGD PMID:22564737|REF_RGD_ID:13506819 11789885 TCF3 transcription factor 3 gene DOID:2226 myeloproliferative neoplasm ISO RGD:1351290 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable PMID:28492532|PMID:35101336 11789885 TCF3 transcription factor 3 gene DOID:2583 agammaglobulinemia ISO RGD:1351290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11789885 TCF3 transcription factor 3 gene DOID:5339 cyclic hematopoiesis ISO RGD:1351290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11789885 TCF3 transcription factor 3 gene DOID:630 genetic disease ISO RGD:1351290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21693761|PMID:24216514|PMID:25741868|PMID:28492532|PMID:33905048 11789885 TCF3 transcription factor 3 gene DOID:8584 Burkitt lymphoma ISO RGD:1351290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17244677|PMID:1967982 11789885 TCF3 transcription factor 3 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1351290 D RGD:9068941 20200609 RGD associated with colon cancer PMID:26212009|REF_RGD_ID:11533019 11789885 TCF3 transcription factor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11789885 TCF3 transcription factor 3 gene DOID:9256 colorectal cancer ISO RGD:1351290 D RGD:9068941 20200609 RGD PMID:19828471|REF_RGD_ID:13432061 11789885 TCF3 transcription factor 3 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1351290 D RGD:9068941 20200609 RGD PMID:24454819|REF_RGD_ID:13432063 11789885 TCF3 transcription factor 3 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1351290 D RGD:9068941 20200609 RGD DNA, mRNA:hypomethylation, increased expression PMID:25375219|REF_RGD_ID:13432058 11789885 TCF3 transcription factor 3 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1351290 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:rs1052918 (human) PMID:23940558|REF_RGD_ID:13432062 11789885 TCF3 transcription factor 3 gene DOID:9538 multiple myeloma ISO RGD:1351290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11789885 TCF3 transcription factor 3 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1351290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26214592 11789923 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0050777 Joubert syndrome ISO RGD:1605184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11789923 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1605184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 11789923 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1605184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11789923 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1605184 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11789923 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1605184 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11789923 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0080497 ovarian dysgenesis 5 ISO RGD:1605184 D RGD:7240710 20190315 OMIM 11789923 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0080497 ovarian dysgenesis 5 ISO RGD:1605184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 5 PMID:17301727|PMID:25741868|PMID:25774885 11789923 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1605184 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 11789923 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1605184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11789923 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0111910 spermatogenic failure ISO RGD:1605184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic Failure PMID:20506135|PMID:28492532|PMID:28718531 11789923 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0111925 spermatogenic failure 32 ISO RGD:1605184 D RGD:7240710 20190315 OMIM 11789923 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0111925 spermatogenic failure 32 ISO RGD:1605184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 32 PMID:20506135|PMID:28492532|PMID:28718531 11789923 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1605184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 11789923 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:1924 hypogonadism ISO RGD:1605184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hypergonadotropic hypogonadism PMID:17301727|PMID:25741868|PMID:25774885 11789923 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:3652 Leigh disease ISO RGD:1605184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11789923 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome 11789923 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:630 genetic disease ISO RGD:1605184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789923 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1605184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 11789959 ATXN7 ataxin 7 gene DOID:0050958 spinocerebellar ataxia type 7 ISO RGD:1350255 D RGD:7240710 20180425 OMIM 11789959 ATXN7 ataxin 7 gene DOID:0050958 spinocerebellar ataxia type 7 ISO RGD:1350255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 7 PMID:25741868 11789959 ATXN7 ataxin 7 gene DOID:37 skin disease ISO RGD:1350255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11789959 ATXN7 ataxin 7 gene DOID:480 movement disease ISO RGD:1350255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25664129 11789959 ATXN7 ataxin 7 gene DOID:630 genetic disease ISO RGD:1350255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789959 ATXN7 ataxin 7 gene DOID:9000343 Vision Disorders ISO RGD:1350255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25664129 11789959 ATXN7 ataxin 7 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1350255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25664129 11789959 ATXN7 ataxin 7 gene DOID:9002563 Gait Ataxia ISO RGD:1350255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25664129 11789959 ATXN7 ataxin 7 gene DOID:9005219 Abnormal Reflexes ISO RGD:1350255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25664129 11789959 ATXN7 ataxin 7 gene DOID:9007964 Arsenic Poisoning ISO RGD:1350255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11789973 SDR42E2 short chain dehydrogenase/reductase family 42E, member 2 gene DOID:0080114 mitochondrial complex III deficiency nuclear type 5 ISO RGD:5688458 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 5 PMID:25741868 11789973 SDR42E2 short chain dehydrogenase/reductase family 42E, member 2 gene DOID:12849 autistic disorder ISO RGD:5688458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11789973 SDR42E2 short chain dehydrogenase/reductase family 42E, member 2 gene DOID:5419 schizophrenia ISO RGD:5688458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11789987 ARIH2 ariadne RBR E3 ubiquitin protein ligase 2 gene DOID:2661 myoepithelioma ISO RGD:1314113 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11789987 ARIH2 ariadne RBR E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:1314113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11789987 ARIH2 ariadne RBR E3 ubiquitin protein ligase 2 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1314113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11789987 ARIH2 ariadne RBR E3 ubiquitin protein ligase 2 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1314113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11790022 TARS3 threonyl-tRNA synthetase 3 gene DOID:630 genetic disease ISO RGD:1351710 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11790046 GCSH glycine cleavage system protein H gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1348453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:28492532 11790046 GCSH glycine cleavage system protein H gene DOID:630 genetic disease ISO RGD:1348453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11790046 GCSH glycine cleavage system protein H gene DOID:9252 amino acid metabolic disorder ISO RGD:1348453 D RGD:9068941 20200609 RGD protein:decreased activity:liver: PMID:7070876|REF_RGD_ID:12904659 11790046 GCSH glycine cleavage system protein H gene DOID:9268 glycine encephalopathy ISO RGD:1348453 D RGD:7240710 20180130 OMIM 11790046 GCSH glycine cleavage system protein H gene DOID:9268 glycine encephalopathy ISO RGD:1348453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:12402263|PMID:17576681|PMID:25741868|PMID:28492532|PMID:33890291|PMID:9536098 11790055 TSSK4 testis specific serine kinase 4 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1345321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11790055 TSSK4 testis specific serine kinase 4 gene DOID:630 genetic disease ISO RGD:1345321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11790055 TSSK4 testis specific serine kinase 4 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1345321 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11790055 TSSK4 testis specific serine kinase 4 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1345321 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11790068 LIAS lipoic acid synthetase gene DOID:3770 pulmonary fibrosis ISO RGD:1316364 D RGD:9068941 20200806 CTD CTD Direct Evidence: therapeutic PMID:32017981 11790068 LIAS lipoic acid synthetase gene DOID:552 pneumonia ISO RGD:1316364 D RGD:9068941 20200806 CTD CTD Direct Evidence: therapeutic PMID:32017981 11790068 LIAS lipoic acid synthetase gene DOID:630 genetic disease ISO RGD:1316364 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532|PMID:28817111 11790068 LIAS lipoic acid synthetase gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1316364 D RGD:7240710 20180130 OMIM 11790068 LIAS lipoic acid synthetase gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1316364 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency PMID:16199547|PMID:17576681|PMID:2152680|PMID:22152680|PMID:24334290|PMID:25741868|PMID:26108146|PMID:26467025|PMID:27923773|PMID:28492532|PMID:28817111|PMID:36680912|PMID:9536098 11790089 FGR FGR proto-oncogene, Src family tyrosine kinase gene DOID:630 genetic disease ISO RGD:733253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11790089 FGR FGR proto-oncogene, Src family tyrosine kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733253 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11790110 YY1AP1 YY1 associated protein 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1605369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11790110 YY1AP1 YY1 associated protein 1 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1605369 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532|PMID:30684668|PMID:31463572 11790110 YY1AP1 YY1 associated protein 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1605369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11790110 YY1AP1 YY1 associated protein 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11790110 YY1AP1 YY1 associated protein 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11790110 YY1AP1 YY1 associated protein 1 gene DOID:1059 intellectual disability ISO RGD:1605369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11790110 YY1AP1 YY1 associated protein 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1605369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11790110 YY1AP1 YY1 associated protein 1 gene DOID:5812 MHC class II deficiency ISO RGD:1605369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11790110 YY1AP1 YY1 associated protein 1 gene DOID:630 genetic disease ISO RGD:1605369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11790110 YY1AP1 YY1 associated protein 1 gene DOID:9007978 Grange Syndrome ISO RGD:1605369 D RGD:7240710 20190315 OMIM 11790110 YY1AP1 YY1 associated protein 1 gene DOID:9007978 Grange Syndrome ISO RGD:1605369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Grange syndrome PMID:11241488|PMID:25741868|PMID:27939641|PMID:30556293 11790110 YY1AP1 YY1 associated protein 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11790145 CCNE2 cyclin E2 gene DOID:0080909 castration-resistant prostate carcinoma treatment ISO RGD:1317175 D RGD:9068941 20200609 RGD PMID:27431942|REF_RGD_ID:13504681 11790145 CCNE2 cyclin E2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1317175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11790145 CCNE2 cyclin E2 gene DOID:1790 malignant mesothelioma ISO RGD:1317175 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 11790145 CCNE2 cyclin E2 gene DOID:2526 prostate adenocarcinoma ISO RGD:1317176 D RGD:9068941 20200609 RGD PMID:25315431|REF_RGD_ID:13504706 11790145 CCNE2 cyclin E2 gene DOID:289 endometriosis ISO RGD:1317175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11790145 CCNE2 cyclin E2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1317175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29464035 11790145 CCNE2 cyclin E2 gene DOID:630 genetic disease ISO RGD:1317175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11790161 PBLD phenazine biosynthesis like protein domain containing gene DOID:0060071 pre-malignant neoplasm ISO RGD:1606247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11790161 PBLD phenazine biosynthesis like protein domain containing gene DOID:630 genetic disease ISO RGD:1606247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11790186 API5 apoptosis inhibitor 5 gene DOID:1059 intellectual disability ISO RGD:1320288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11790186 API5 apoptosis inhibitor 5 gene DOID:4362 cervical cancer disease_progression ISO RGD:1320288 D RGD:9068941 20200609 RGD mRNA:increased expression PMID:10780674|REF_RGD_ID:1643340 11790186 API5 apoptosis inhibitor 5 gene DOID:630 genetic disease ISO RGD:1320288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11790207 DYDC1 DPY30 domain containing 1 gene DOID:630 genetic disease ISO RGD:1352824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11790223 GRK3 G protein-coupled receptor kinase 3 gene DOID:10763 hypertension ISO RGD:2063 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle, kidney (rat) PMID:26248277|REF_RGD_ID:11535540 11790223 GRK3 G protein-coupled receptor kinase 3 gene DOID:14330 Parkinson's disease ISO RGD:2063 D RGD:9068941 20200609 RGD protein:decreased expression:caudate putamen (rat) PMID:17996024|REF_RGD_ID:5685370 11790223 GRK3 G protein-coupled receptor kinase 3 gene DOID:1459 hypothyroidism ISO RGD:2063 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (rat) PMID:19728039|REF_RGD_ID:5685027 11790223 GRK3 G protein-coupled receptor kinase 3 gene DOID:3312 bipolar disorder ISO RGD:730840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12808434 11790223 GRK3 G protein-coupled receptor kinase 3 gene DOID:3312 bipolar disorder ISO RGD:730840 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:frontal cortex (human) PMID:19400979|REF_RGD_ID:5685029 11790223 GRK3 G protein-coupled receptor kinase 3 gene DOID:6000 congestive heart failure severity ISO RGD:730840 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle (human) PMID:22685168|REF_RGD_ID:13506835 11790223 GRK3 G protein-coupled receptor kinase 3 gene DOID:630 genetic disease ISO RGD:730840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11790223 GRK3 G protein-coupled receptor kinase 3 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2063 D RGD:9068941 20200609 RGD PMID:23196710|REF_RGD_ID:13792785 11790223 GRK3 G protein-coupled receptor kinase 3 gene DOID:9003936 Cardiomegaly ISO RGD:2063 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle (rat) PMID:20677219|REF_RGD_ID:5685025 11790223 GRK3 G protein-coupled receptor kinase 3 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730840 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex (human) PMID:23727505|REF_RGD_ID:13792719 11790257 ZBTB16 zinc finger and BTB domain containing 16 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1352454 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23208507 11790257 ZBTB16 zinc finger and BTB domain containing 16 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1352454 D RGD:9068941 20200609 RGD PMID:8387545|REF_RGD_ID:1599922 11790257 ZBTB16 zinc finger and BTB domain containing 16 gene DOID:0080700 caudal regression syndrome ISO RGD:727921 D RGD:9068941 20210226 RGD PMID:27727328|REF_RGD_ID:40924666 11790257 ZBTB16 zinc finger and BTB domain containing 16 gene DOID:1059 intellectual disability ISO RGD:1352454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11790257 ZBTB16 zinc finger and BTB domain containing 16 gene DOID:1148 polydactyly ISO RGD:727921 D RGD:9068941 20200609 RGD DNA:deletion:intron (rat) PMID:19191224|REF_RGD_ID:2312786 11790257 ZBTB16 zinc finger and BTB domain containing 16 gene DOID:630 genetic disease ISO RGD:1352454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11790257 ZBTB16 zinc finger and BTB domain containing 16 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352454 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 11790257 ZBTB16 zinc finger and BTB domain containing 16 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1352454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11790257 ZBTB16 zinc finger and BTB domain containing 16 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1352454 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 11790257 ZBTB16 zinc finger and BTB domain containing 16 gene DOID:9006347 Skeletal Defects, Genital Hypoplasia, And Mental Retardation ISO RGD:1352454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT PMID:11891687|PMID:18611983 11790268 P2RY6 pyrimidinergic receptor P2Y6 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:736435 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11790268 P2RY6 pyrimidinergic receptor P2Y6 gene DOID:1059 intellectual disability ISO RGD:736435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11790298 PGK2 phosphoglycerate kinase 2 gene DOID:630 genetic disease ISO RGD:1315351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11790322 TSTD1 thiosulfate sulfurtransferase like domain containing 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:2859136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11790322 TSTD1 thiosulfate sulfurtransferase like domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:2859136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11790322 TSTD1 thiosulfate sulfurtransferase like domain containing 1 gene DOID:630 genetic disease ISO RGD:2859136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11790322 TSTD1 thiosulfate sulfurtransferase like domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:2859136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11790333 GTF2H1 general transcription factor IIH subunit 1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1317878 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 11790333 GTF2H1 general transcription factor IIH subunit 1 gene DOID:1059 intellectual disability ISO RGD:1317878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11790333 GTF2H1 general transcription factor IIH subunit 1 gene DOID:1062 Fanconi syndrome ISO RGD:1317878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XI PMID:28492532 11790333 GTF2H1 general transcription factor IIH subunit 1 gene DOID:630 genetic disease ISO RGD:1317878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11790333 GTF2H1 general transcription factor IIH subunit 1 gene DOID:9003665 Glycogen Storage Disease XI ISO RGD:1317878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lactate dehydrogenase deficiency type A PMID:28492532 11790370 YOD1 YOD1 deubiquitinase gene DOID:0050589 inflammatory bowel disease ISO RGD:1604806 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 11790370 YOD1 YOD1 deubiquitinase gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1604806 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 11790370 YOD1 YOD1 deubiquitinase gene DOID:12849 autistic disorder ISO RGD:1604806 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11790370 YOD1 YOD1 deubiquitinase gene DOID:1540 parathyroid carcinoma ISO RGD:1604806 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11790370 YOD1 YOD1 deubiquitinase gene DOID:630 genetic disease ISO RGD:1604806 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11790370 YOD1 YOD1 deubiquitinase gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1604806 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11790370 YOD1 YOD1 deubiquitinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604806 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11790380 RORA RAR related orphan receptor A gene DOID:1059 intellectual disability ISO RGD:1318175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual deficiency PMID:29656859 11790380 RORA RAR related orphan receptor A gene DOID:12849 autistic disorder ISO RGD:1318175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20375269|PMID:21359227 11790380 RORA RAR related orphan receptor A gene DOID:2717 Bloom syndrome ISO RGD:1318175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11790380 RORA RAR related orphan receptor A gene DOID:630 genetic disease ISO RGD:1318175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:29656859 11790380 RORA RAR related orphan receptor A gene DOID:9000217 Stomach Neoplasms ISO RGD:1318175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11790380 RORA RAR related orphan receptor A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11790380 RORA RAR related orphan receptor A gene DOID:9009192 INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA ISO RGD:1318175 D RGD:7240710 20190315 OMIM 11790380 RORA RAR related orphan receptor A gene DOID:9009192 INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA ISO RGD:1318175 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with or without epilepsy or cerebellar ataxia PMID:25741868|PMID:28492532|PMID:29656859|PMID:29758562 11790380 RORA RAR related orphan receptor A gene DOID:9256 colorectal cancer ISO RGD:1318175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11790397 GGTA1 glycoprotein alpha-galactosyltransferase 1 (inactive) gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350501 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11790408 MAMDC2 MAM domain containing 2 gene DOID:10283 prostate cancer ISO RGD:1312980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11790408 MAMDC2 MAM domain containing 2 gene DOID:630 genetic disease ISO RGD:1312980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11790485 PINK1 PTEN induced kinase 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1314001 D RGD:7240710 20180130 OMIM 11790485 PINK1 PTEN induced kinase 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1314001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 | ClinVar Annotator: match by term: PINK1-Related Parkinsonism | ClinVar Annotator: match by term: Parkinson disease 6 | ClinVar Annotator: match by term: Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 PMID:15087508|PMID:15349860|PMID:15349870|PMID:15349871|PMID:15584030|PMID:15596610|PMID:15824318|PMID:15955953|PMID:15970950|PMID:16009891|PMID:16199547|PMID:16207217|PMID:16207731|PMID:16257123|PMID:16401616|PMID:16482571|PMID:16547921|PMID:16632486|PMID:16702191|PMID:16755580|PMID:16769864|PMID:16805805|PMID:16966503|PMID:16969854|PMID:17030667|PMID:17055324|PMID:17172567|PMID:17576681|PMID:17579517|PMID:17960343|PMID:18003639|PMID:18286320|PMID:18330912|PMID:18359116|PMID:18403612|PMID:18486522|PMID:18524835|PMID:18541801|PMID:18546294|PMID:18685134|PMID:18704525|PMID:18785233|PMID:19087301|PMID:19229105|PMID:19242547|PMID:19351622|PMID:19847793|PMID:19880420|PMID:19889566|PMID:19890973|PMID:20126261|PMID:20356854|PMID:20506312|PMID:20547144|PMID:20558144|PMID:20798600|PMID:20981092|PMID:21412950|PMID:21488273|PMID:21534944|PMID:21925922|PMID:21996382|PMID:22118943|PMID:22238344|PMID:22243833|PMID:22445250|PMID:22451330|PMID:22644621|PMID:22764206|PMID:22956510|PMID:23063710|PMID:23303188|PMID:23334666|PMID:2345993|PMID:23459931|PMID:23880019|PMID:23986421|PMID:24033266|PMID:24167364|PMID:24374372|PMID:24660942|PMID:24677602|PMID:25466404|PMID:25558820|PMID:25741868|PMID:26274610|PMID:26467025|PMID:27094865|PMID:27574110|PMID:27884173|PMID:28492532|PMID:28502045|PMID:28849312|PMID:29091718|PMID:29255601|PMID:29655942|PMID:30502028|PMID:31217084|PMID:32446772|PMID:32713623|PMID:32861104|PMID:32870915|PMID:33845304|PMID:34148545|PMID:9536098 11790485 PINK1 PTEN induced kinase 1 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1314001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset 11790485 PINK1 PTEN induced kinase 1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1314001 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11790485 PINK1 PTEN induced kinase 1 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1314001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:25741868|PMID:28492532 11790485 PINK1 PTEN induced kinase 1 gene DOID:0080855 Parkinsonism ISO RGD:1305769 D RGD:9068941 20200609 RGD PMID:24969022|REF_RGD_ID:13210569 11790485 PINK1 PTEN induced kinase 1 gene DOID:0080855 Parkinsonism ISO RGD:1314001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11254447|PMID:15349871|PMID:23046578|PMID:24441527|PMID:24792327|PMID:26558463 11790485 PINK1 PTEN induced kinase 1 gene DOID:1024 leprosy ISO RGD:1314001 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 11790485 PINK1 PTEN induced kinase 1 gene DOID:14330 Parkinson's disease ISO RGD:1314001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Recessive PMID:25741868|PMID:28492532 11790485 PINK1 PTEN induced kinase 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1314001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 11790485 PINK1 PTEN induced kinase 1 gene DOID:630 genetic disease ISO RGD:1314001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11790485 PINK1 PTEN induced kinase 1 gene DOID:769 neuroblastoma ISO RGD:1314001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23334666 11790485 PINK1 PTEN induced kinase 1 gene DOID:9002955 Nerve Degeneration ISO RGD:1314001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24161480 11790485 PINK1 PTEN induced kinase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1314001 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35312153 11790485 PINK1 PTEN induced kinase 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1314001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11790497 RFX5 regulatory factor X5 gene DOID:0080422 Dravet syndrome ISO RGD:1323259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 11790497 RFX5 regulatory factor X5 gene DOID:0111940 immunodeficiency 42 ISO RGD:1323259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11790497 RFX5 regulatory factor X5 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1323259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11790497 RFX5 regulatory factor X5 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1323259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11790497 RFX5 regulatory factor X5 gene DOID:1540 parathyroid carcinoma ISO RGD:1323259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11790497 RFX5 regulatory factor X5 gene DOID:5812 MHC class II deficiency ISO RGD:1323259 D RGD:7240710 20180207 OMIM 11790497 RFX5 regulatory factor X5 gene DOID:5812 MHC class II deficiency ISO RGD:1323259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group B | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency PMID:10079298|PMID:12368908|PMID:17576681|PMID:24033266|PMID:25741868|PMID:26193622|PMID:28492532|PMID:32888943|PMID:7744245|PMID:9401005|PMID:9536098 11790497 RFX5 regulatory factor X5 gene DOID:5812 MHC class II deficiency ISO RGD:1323259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency PMID:10079298|PMID:12368908|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:26193622|PMID:28492532|PMID:29527204|PMID:30084052|PMID:30170160|PMID:32888943|PMID:7744245|PMID:9401005|PMID:9536098 11790497 RFX5 regulatory factor X5 gene DOID:627 severe combined immunodeficiency ISO RGD:1323259 D RGD:9068941 20200609 RGD PMID:7744245|PMID:9401005|REF_RGD_ID:1599742|REF_RGD_ID:1599743 11790497 RFX5 regulatory factor X5 gene DOID:630 genetic disease ISO RGD:1323259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11790497 RFX5 regulatory factor X5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11790549 TTN titin gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Right ventricular cardiomyopathy PMID:17576681|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25016126|PMID:25448463|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27662471|PMID:28492532|PMID:28750076|PMID:28771489|PMID:28857138|PMID:30564623|PMID:9536098 11790549 TTN titin gene DOID:0050451 Brugada syndrome ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:17344846|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27588451|PMID:27854218|PMID:28492532|PMID:29099038|PMID:30985088|PMID:31481236|PMID:31795264 11790549 TTN titin gene DOID:0050557 congenital muscular dystrophy ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:25741868 11790549 TTN titin gene DOID:0050638 transthyretin amyloidosis ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis | ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 11790549 TTN titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29970176|PMID:30086531|PMID:30429050|PMID:30535219|PMID:30536954|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31112426|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31539150|PMID:31795264|PMID:31983221|PMID:32039858|PMID:32246154|PMID:32746448|PMID:32778822|PMID:32964742|PMID:32969603|PMID:33449170|PMID:34137518|PMID:34782754|PMID:9536098 11790549 TTN titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29970176|PMID:30086531|PMID:30429050|PMID:30535219|PMID:30536954|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31112426|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31660661|PMID:31691645|PMID:31795264|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32746448|PMID:32778822|PMID:32964742|PMID:32969603|PMID:33449170|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:9536098 11790549 TTN titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29970176|PMID:30086531|PMID:30429050|PMID:30535219|PMID:30536954|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31112426|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31660661|PMID:31691645|PMID:31737537|PMID:31795264|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32746448|PMID:32778822|PMID:32964742|PMID:32969603|PMID:33449170|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:9536098 11790549 TTN titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29970176|PMID:30086531|PMID:30429050|PMID:30535219|PMID:30536954|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31112426|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31660661|PMID:31691645|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32746448|PMID:32778822|PMID:32964742|PMID:32969603|PMID:33106378|PMID:33449170|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:9536098 11790549 TTN titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29970176|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30429050|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31112426|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33449170|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:9536098 11790549 TTN titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29970176|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30415094|PMID:30429050|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31112426|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33449170|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:35207729|PMID:9536098 11790549 TTN titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326637|PMID:25332820|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30415094|PMID:30429050|PMID:30467950|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31931689|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32597815|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33297573|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:35177841|PMID:35207729|PMID:9536098 11790549 TTN titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326637|PMID:25332820|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30415094|PMID:30429050|PMID:30467950|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31931689|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32597815|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33297573|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:35177841|PMID:35207729|PMID:9536098 11790549 TTN titin gene DOID:0050823 third-degree atrioventricular block ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Third degree atrioventricular block PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532|PMID:31251381|PMID:31470098|PMID:31983221|PMID:34135346 11790549 TTN titin gene DOID:0060224 atrial fibrillation ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:17344846|PMID:20890277|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24459294|PMID:24503780|PMID:25626705|PMID:25741868|PMID:25979592|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26597493|PMID:26773040|PMID:27066551|PMID:28492532 11790549 TTN titin gene DOID:0060480 left ventricular noncompaction ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:25741868|PMID:28492532 11790549 TTN titin gene DOID:0070251 X-linked Emery-Dreifuss muscular dystrophy 6 ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy PMID:25741868 11790549 TTN titin gene DOID:0080000 muscular disease ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:18948003|PMID:22335739|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24395473|PMID:25214167|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26516846|PMID:26701604|PMID:27796757|PMID:28166282|PMID:28255936|PMID:28295036|PMID:28492532|PMID:28771489|PMID:29435569|PMID:30615648|PMID:31028938 11790549 TTN titin gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1605120 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:25741868 11790549 TTN titin gene DOID:0080100 congenital myopathy ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital myopathy PMID:17344846|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26516846|PMID:27854218|PMID:28492532|PMID:29099038|PMID:31481236 11790549 TTN titin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1605120 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11846417|PMID:18414213|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27662471|PMID:28492532|PMID:28606400|PMID:28750076|PMID:30724488|PMID:32039858 11790549 TTN titin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11846417|PMID:18414213|PMID:18948003|PMID:23396983|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24395473|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27662471|PMID:28492532|PMID:28606400|PMID:28750076|PMID:30724488|PMID:32039858 11790549 TTN titin gene DOID:0080991 multiminicore disease ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Minicore myopathy | ClinVar Annotator: match by term: Multiminicore myopathy PMID:25741868 11790549 TTN titin gene DOID:0090048 dystonia 16 ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia 16 PMID:28492532 11790549 TTN titin gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532 11790549 TTN titin gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1605120 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26567375|PMID:26676851|PMID:28492532|PMID:29253866 11790549 TTN titin gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1605120 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:17576681|PMID:22335739|PMID:22526018|PMID:23396983|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25589632|PMID:25741868|PMID:26467025|PMID:27066507|PMID:28492532|PMID:28822653|PMID:31983221|PMID:9536098 11790549 TTN titin gene DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Calpainopathy PMID:25741868|PMID:27321809|PMID:27854218|PMID:28492532 11790549 TTN titin gene DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J ISO RGD:1605120 D RGD:7240710 20180130 OMIM 11790549 TTN titin gene DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:33333461|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33673806|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34011823|PMID:34088380|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:34667957|PMID:34782754|PMID:34918981|PMID:35177841|PMID:35207729|PMID:9536098|PMID:9804419 11790549 TTN titin gene DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J ISO RGD:1605120 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16199547|PMID:16733766|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21572417|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23518707|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23910462|PMID:23975875|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25798586|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:25987458|PMID:26084686|PMID:26187847|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26392295|PMID:26395554|PMID:26406308|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27353043|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28087566|PMID:28135719|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28714951|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28851873|PMID:28857138|PMID:29029073|PMID:29093449|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29253866|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29540472|PMID:29544605|PMID:29590070|PMID:29650543|PMID:29691892|PMID:29750433|PMID:29773157|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30165862|PMID:30238059|PMID:30333491|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30429050|PMID:30453078|PMID:30471092|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30662450|PMID:30666435|PMID:30724488|PMID:30770808|PMID:30821013|PMID:30827497|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31216868|PMID:31218166|PMID:31230720|PMID:31251381|PMID:31317183|PMID:31395899|PMID:31407473|PMID:31481236|PMID:31486067|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31618753|PMID:31638414|PMID:31660661|PMID:31691645|PMID:31727422|PMID:31737537|PMID:31785789|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31931689|PMID:31953240|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32041989|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32597815|PMID:32659924|PMID:32746448|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:32969603|PMID:32998006|PMID:33060286|PMID:33106378|PMID:33190517|PMID:33226272|PMID:33297573 11790549 TTN titin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27662471|PMID:28492532|PMID:28606400|PMID:28750076|PMID:30724488|PMID:32039858 11790549 TTN titin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1605120 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27662471|PMID:28492532|PMID:28606400|PMID:28750076|PMID:30724488|PMID:32039858|PMID:32880476 11790549 TTN titin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:18948003|PMID:23396983|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24395473|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27662471|PMID:28492532|PMID:28606400|PMID:28750076|PMID:30724488|PMID:32039858|PMID:32880476 11790549 TTN titin gene DOID:0110315 hypertrophic cardiomyopathy 9 ISO RGD:1605120 D RGD:7240710 20180130 OMIM 11790549 TTN titin gene DOID:0110315 hypertrophic cardiomyopathy 9 ISO RGD:1605120 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 9 PMID:10462489|PMID:11310621|PMID:16084088|PMID:17344846|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22577215|PMID:22577218|PMID:22577220|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23514108|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23852418|PMID:23861362|PMID:23975875|PMID:23995273|PMID:24033266|PMID:24082139|PMID:24119082|PMID:24384345|PMID:24395473|PMID:24444549|PMID:24459294|PMID:24503780|PMID:24575448|PMID:24636144|PMID:24884718|PMID:24980681|PMID:25037085|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25448463|PMID:25500009|PMID:25589632|PMID:25741868|PMID:25825243|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26777568|PMID:27066551|PMID:27302369|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27854218|PMID:27854229|PMID:27930701|PMID:28045975|PMID:28166282|PMID:28295036|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29961767|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30371277|PMID:30453078|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:30615648|PMID:30847666|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31514951|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33874732|PMID:33906374|PMID:34106991|PMID:34135346|PMID:34540771|PMID:9536098 11790549 TTN titin gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:17576681|PMID:21520333|PMID:22335739|PMID:23418287|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24119082|PMID:24503780|PMID:25448463|PMID:25589632|PMID:25741868|PMID:26701604|PMID:28492532|PMID:28798025|PMID:29691892|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:31514951|PMID:31660661|PMID:31691645|PMID:32160020|PMID:32277046|PMID:33012304|PMID:34782754|PMID:9536098 11790549 TTN titin gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:21520333|PMID:22335739|PMID:23418287|PMID:23975875|PMID:24033266|PMID:24119082|PMID:24503780|PMID:25448463|PMID:25589632|PMID:25741868|PMID:28492532|PMID:28798025|PMID:29691892|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:31514951|PMID:31660661|PMID:32160020|PMID:32277046|PMID:34782754 11790549 TTN titin gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1605120 D RGD:7240710 20180130 OMIM 11790549 TTN titin gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1605120 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:10051295|PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:11788824|PMID:11846417|PMID:12145747|PMID:12669942|PMID:12891679|PMID:15802564|PMID:16084088|PMID:16199547|PMID:16733766|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19763152|PMID:19911250|PMID:20301498|PMID:20307669|PMID:20890277|PMID:21520333|PMID:21572417|PMID:21617319|PMID:21681106|PMID:21810661|PMID:22335739|PMID:22406018|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23297410|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25326637|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25640679|PMID:25739468|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25798586|PMID:25825243|PMID:25877298|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26077850|PMID:26084686|PMID:26187847|PMID:26265630|PMID:26269091|PMID:26272908|PMID:26315439|PMID:26383259|PMID:26392295|PMID:26395554|PMID:26406308|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26581302|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27182706|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27353043|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27544385|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27625338|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27868403|PMID:27869827|PMID:27886618|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28087566|PMID:28135719|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28357410|PMID:28403181|PMID:28416588|PMID:28424332|PMID:28449774|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28714951|PMID:28716623|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28851873|PMID:28857138|PMID:28877744|PMID:28941705|PMID:29029073|PMID:29057560|PMID:29093449|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29253866|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29540472|PMID:29544605|PMID:29590070|PMID:29650543|PMID:29691892|PMID:29750433|PMID:29773157|PMID:29792937|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30012837|PMID:30021846|PMID:30025578|PMID:30061524|PMID:30086531|PMID:30109841|PMID:30165862|PMID:30238059|PMID:30269836|PMID:30333491|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30429050|PMID:30453078|PMID:30471092|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30557390|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30662450|PMID:30665247|PMID:30666435|PMID:30681174|PMID:30724488|PMID:30770808|PMID:30821013|PMID:30827497|PMID:30847666|PMID:30858397|PMID:30924900|PMID:30985088|PMID:30993396 11790549 TTN titin gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1605120 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:31028938|PMID:31053406|PMID:31112426|PMID:31127727|PMID:31130284|PMID:31215789|PMID:31218166|PMID:31230720|PMID:31251381|PMID:31317183|PMID:31333075|PMID:31395899|PMID:31402444|PMID:31407473|PMID:31481236|PMID:31486067|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31589614|PMID:31618753|PMID:31638414|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31785789|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31931689|PMID:31953240|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32041989|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32597815|PMID:32659924|PMID:32746448|PMID:32778822|PMID:32815318|PMID:32846814|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:32969603|PMID:32998006|PMID:33012304|PMID:33019804|PMID:33049752|PMID:33060286|PMID:33106378|PMID:33146414|PMID:33190517|PMID:33226272|PMID:33297573|PMID:33333461|PMID:33373724|PMID:33432171|PMID:33449170|PMID:33481221|PMID:33500567|PMID:33552729|PMID:33673806|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34011823|PMID:34036930|PMID:34088380|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:34667957|PMID:34782754|PMID:35177841|PMID:35207729|PMID:9536098|PMID:9804419 11790549 TTN titin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL DILATED, 1 | ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:12145747|PMID:17444505|PMID:18948003|PMID:21520333|PMID:22335739|PMID:23975875|PMID:24033266|PMID:24119082|PMID:24395473|PMID:24503780|PMID:25214167|PMID:25448463|PMID:25589632|PMID:25741868|PMID:26735901|PMID:27532257|PMID:27813223|PMID:27886618|PMID:28045975|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28798025|PMID:29447731|PMID:29540472|PMID:30109841|PMID:30535219|PMID:31112426|PMID:31514951|PMID:32039858|PMID:32659924|PMID:32778822|PMID:32815318|PMID:32880476|PMID:33432171|PMID:33500567|PMID:33874732 11790549 TTN titin gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:23396983|PMID:23861362|PMID:23975875|PMID:24033266|PMID:25589632|PMID:25741868|PMID:26467025|PMID:28045975|PMID:28135719|PMID:28492532|PMID:29253866 11790549 TTN titin gene DOID:0110957 Gaucher's disease type I ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gaucher disease, noncerebral juvenile PMID:25741868 11790549 TTN titin gene DOID:0111078 tibial muscular dystrophy ISO RGD:1605120 D RGD:7240710 20180718 OMIM 11790549 TTN titin gene DOID:0111078 tibial muscular dystrophy ISO RGD:1605120 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy | ClinVar Annotator: match by term: UDD Myopathy | ClinVar Annotator: match by term: Udd Distal Myopathy PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:12891679|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20301498|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23518707|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25739468|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25877298|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30666435|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:35207729|PMID:9536098 11790549 TTN titin gene DOID:0111188 myofibrillar myopathy 9 ISO RGD:1605120 D RGD:7240710 20190703 OMIM 11790549 TTN titin gene DOID:0111188 myofibrillar myopathy 9 ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23975875|PMID:23995273|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25889363|PMID:25979592|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27400856|PMID:27418678|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28403181|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29179779|PMID:29221435|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29997562|PMID:30086531|PMID:30365001|PMID:30535219|PMID:30609410|PMID:30615648|PMID:30666435|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31127727|PMID:31215789|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31539150|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31983221|PMID:32246154|PMID:32746448|PMID:32934002|PMID:33297573|PMID:33449170|PMID:34137518|PMID:9536098 11790549 TTN titin gene DOID:0111188 myofibrillar myopathy 9 ISO RGD:1605120 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23975875|PMID:23995273|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31127727|PMID:31215789|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34540771|PMID:35207729|PMID:9536098 11790549 TTN titin gene DOID:0111188 myofibrillar myopathy 9 ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23975875|PMID:23995273|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30666435|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:35207729|PMID:9536098 11790549 TTN titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24892279|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26773040|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27400856|PMID:27418678|PMID:27585509|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28822653|PMID:28831623|PMID:29099038|PMID:29179779|PMID:29221435|PMID:29361395|PMID:29540445|PMID:29590070|PMID:29970176|PMID:30535219|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30993396|PMID:31127727|PMID:31215789|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31539150|PMID:32246154|PMID:32746448|PMID:33449170|PMID:34137518 11790549 TTN titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24892279|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26773040|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27400856|PMID:27418678|PMID:27585509|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28822653|PMID:28831623|PMID:29099038|PMID:29179779|PMID:29221435|PMID:29361395|PMID:29540445|PMID:29590070|PMID:29961767|PMID:29970176|PMID:30531895|PMID:30535219|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30993396|PMID:31127727|PMID:31215789|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31539150|PMID:32246154|PMID:32746448|PMID:33449170|PMID:33692775|PMID:34137518 11790549 TTN titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30086531|PMID:30238059|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30564623|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31127727|PMID:31215789|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31539150|PMID:31589614|PMID:31795264|PMID:31847883|PMID:31983221|PMID:32039858|PMID:32235935|PMID:32246154|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32964742|PMID:33449170|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34106991|PMID:34137518|PMID:34540771|PMID:35207729|PMID:9536098 11790549 TTN titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31127727|PMID:31215789|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:33432171|PMID:33449170|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34540771|PMID:35207729|PMID:9536098 11790549 TTN titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:35207729|PMID:9536098 11790549 TTN titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21270786|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25974703|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:35207729|PMID:9536098 11790549 TTN titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24884718|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:35207729|PMID:9536098 11790549 TTN titin gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1605120 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Muscular Dystrophies, Limb-Girdle PMID:18948003|PMID:23396983|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24395473|PMID:24892279|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26516846|PMID:27796757|PMID:28295036|PMID:28492532|PMID:29435569|PMID:32246154|PMID:32528171|PMID:32778822|PMID:34106991|PMID:34540771 11790549 TTN titin gene DOID:11836 clubfoot ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral talipes equinovarus PMID:23861362|PMID:25741868 11790549 TTN titin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17344846|PMID:17576681|PMID:18414213|PMID:23396983|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24271327|PMID:24440382|PMID:24476948|PMID:24503780|PMID:25163546|PMID:25447171|PMID:25589632|PMID:25741868|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26676851|PMID:26718681|PMID:27066507|PMID:27930701|PMID:28045975|PMID:28492532|PMID:28600387|PMID:28750076|PMID:28822653|PMID:28831623|PMID:29988065|PMID:30847666|PMID:30993396|PMID:31489791|PMID:31983221|PMID:33106378|PMID:33552729|PMID:33692775|PMID:34137518|PMID:9536098 11790549 TTN titin gene DOID:12930 dilated cardiomyopathy ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24395473|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25448463|PMID:25589632|PMID:25741868|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28256728|PMID:28416588|PMID:28492532|PMID:28716623|PMID:28771489|PMID:28822653|PMID:28877744|PMID:28941705|PMID:29029073|PMID:29093449|PMID:29361395|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:30012837|PMID:30371277|PMID:30535219|PMID:30536954|PMID:30615648|PMID:30681174|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31727422|PMID:31983221|PMID:32039858|PMID:32233023|PMID:32235935|PMID:32603605|PMID:32659924|PMID:32778822|PMID:32964742|PMID:33106378|PMID:9536098 11790549 TTN titin gene DOID:12930 dilated cardiomyopathy ISO RGD:1605120 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24395473|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25448463|PMID:25589632|PMID:25741868|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28256728|PMID:28416588|PMID:28492532|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28877744|PMID:28941705|PMID:29029073|PMID:29093449|PMID:29361395|PMID:29435569|PMID:29447731|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:30012837|PMID:30371277|PMID:30535219|PMID:30536954|PMID:30609409|PMID:30615648|PMID:30681174|PMID:31112426|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31660661|PMID:31691645|PMID:31727422|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32603605|PMID:32659924|PMID:32778822|PMID:32964742|PMID:33106378|PMID:33874732|PMID:34495297|PMID:34540771|PMID:9536098 11790549 TTN titin gene DOID:12930 dilated cardiomyopathy ISO RGD:1605120 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24319099|PMID:24395473|PMID:24459294|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25448463|PMID:25589632|PMID:25741868|PMID:25987458|PMID:26272908|PMID:26315439|PMID:26467025|PMID:26516846|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27813223|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28087566|PMID:28138913|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28851873|PMID:28941705|PMID:29361395|PMID:29435569|PMID:29447731|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:30012837|PMID:30333491|PMID:30371277|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:30615648|PMID:30681174|PMID:31112426|PMID:31317183|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31660661|PMID:31691645|PMID:31727422|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32528171|PMID:32603605|PMID:32659924|PMID:32778822|PMID:32815318|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33432171|PMID:33874732|PMID:34495297|PMID:34540771|PMID:34667957|PMID:34782754|PMID:9536098 11790549 TTN titin gene DOID:12930 dilated cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24319099|PMID:24395473|PMID:24459294|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25326637|PMID:25448463|PMID:25589632|PMID:25741868|PMID:25987458|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28087566|PMID:28138913|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28851873|PMID:28877744|PMID:28941705|PMID:29093449|PMID:29361395|PMID:29435569|PMID:29447731|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:29988065|PMID:30012837|PMID:30333491|PMID:30371277|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:30615648|PMID:30681174|PMID:31112426|PMID:31127727|PMID:31251381|PMID:31317183|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31727422|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32528171|PMID:32603605|PMID:32659924|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33874732|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34667957|PMID:34782754|PMID:35177841|PMID:9536098 11790549 TTN titin gene DOID:14717 centronuclear myopathy ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Centronuclear myopathy PMID:22335739|PMID:23975875|PMID:24033266|PMID:25589632|PMID:25741868|PMID:26701604|PMID:28492532|PMID:30609409 11790549 TTN titin gene DOID:1926 Gaucher's disease ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acid beta-glucosidase deficiency PMID:25741868 11790549 TTN titin gene DOID:1969 cerebral palsy ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 11790549 TTN titin gene DOID:2843 long QT syndrome ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:17344846|PMID:23861362|PMID:24033266|PMID:25145518|PMID:25741868|PMID:26467025|PMID:26567375|PMID:27930701|PMID:28492532|PMID:29253866 11790549 TTN titin gene DOID:2843 long QT syndrome ISO RGD:1605120 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:17344846|PMID:23861362|PMID:24033266|PMID:25145518|PMID:25741868|PMID:26467025|PMID:26567375|PMID:27854218|PMID:27930701|PMID:28492532|PMID:29253866 11790549 TTN titin gene DOID:3393 coronary artery disease ISO RGD:1605120 D RGD:9068941 20200609 RGD PMID:12221049|REF_RGD_ID:1580780 11790549 TTN titin gene DOID:3529 central core disease ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Shy-Magee syndrome PMID:24033266|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532 11790549 TTN titin gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532|PMID:31983221|PMID:32233023 11790549 TTN titin gene DOID:397 restrictive cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy | ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:17576681|PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572|PMID:9536098 11790549 TTN titin gene DOID:422 congenital structural myopathy ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myotubular myopathy PMID:22335739|PMID:23975875|PMID:24033266|PMID:25589632|PMID:26701604|PMID:28492532|PMID:30609409 11790549 TTN titin gene DOID:423 myopathy ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy PMID:18948003|PMID:22335739|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24395473|PMID:25214167|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26516846|PMID:26701604|PMID:27796757|PMID:28166282|PMID:28255936|PMID:28295036|PMID:28492532|PMID:28771489|PMID:29435569|PMID:30615648|PMID:31028938 11790549 TTN titin gene DOID:440 neuromuscular disease ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:22335739|PMID:23975875|PMID:24033266|PMID:25589632|PMID:26701604|PMID:28492532|PMID:29691892|PMID:31053406 11790549 TTN titin gene DOID:5844 myocardial infarction ISO RGD:621114 D RGD:9068941 20200609 RGD PMID:12221049|REF_RGD_ID:1580780 11790549 TTN titin gene DOID:6000 congestive heart failure ISO RGD:1605120 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congestive heart failure | ClinVar Annotator: match by term: Heart failure PMID:15802564|PMID:17344846|PMID:23396983|PMID:23486992|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24231549|PMID:24271327|PMID:24503780|PMID:24569025|PMID:24578547|PMID:25589632|PMID:25741868|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27194543|PMID:27843123|PMID:28256728|PMID:28492532|PMID:28771489|PMID:29361395 11790549 TTN titin gene DOID:630 genetic disease ISO RGD:1605120 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10462489|PMID:11717165|PMID:12145747|PMID:12669942|PMID:17444505|PMID:1745277|PMID:18948003|PMID:21617319|PMID:21810661|PMID:22335739|PMID:23396983|PMID:23418287|PMID:23518707|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24105469|PMID:24395473|PMID:24503780|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26581302|PMID:26701604|PMID:27532257|PMID:27588451|PMID:27869827|PMID:27930701|PMID:28492532|PMID:29540472|PMID:30535219|PMID:30985088|PMID:31795264|PMID:32964742|PMID:33449170|PMID:33874732|PMID:34315225 11790549 TTN titin gene DOID:9000006 Supraventricular Tachycardia ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Supraventricular tachycardia PMID:17344846|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24271327|PMID:24503780|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27662471|PMID:27930701|PMID:28492532|PMID:28600387|PMID:28606400 11790549 TTN titin gene DOID:9000184 Ventricular Fibrillation ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:23396983|PMID:23861362|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26467025|PMID:28492532 11790549 TTN titin gene DOID:9000299 cardiac amyloidosis ISO RGD:1605120 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY PMID:23861362|PMID:25741868|PMID:28492532 11790549 TTN titin gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1605120 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:18948003|PMID:22335739|PMID:23975875|PMID:24033266|PMID:24395473|PMID:25589632|PMID:25741868|PMID:25987458|PMID:26467025|PMID:26735901|PMID:28295036|PMID:28492532|PMID:32528171|PMID:32659924|PMID:32778822|PMID:32880476|PMID:33449170|PMID:33874732|PMID:34106991|PMID:34540771 11790549 TTN titin gene DOID:9000727 Syncope ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syncope PMID:24033266|PMID:25741868 11790549 TTN titin gene DOID:9001276 Failure to Thrive ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 11790549 TTN titin gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:1605120 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial amyloid polyneuropathy PMID:23861362|PMID:25741868|PMID:28492532 11790549 TTN titin gene DOID:9001561 Pseudovaginal Perineoscrotal Hypospadias ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial incomplete male pseudohermaphroditism, type 2 PMID:25741868|PMID:28492532 11790549 TTN titin gene DOID:9002521 Left Ventricular Noncompaction 2 ISO RGD:1605120 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 2 PMID:22335739|PMID:23975875|PMID:25589632|PMID:25741868|PMID:26701604|PMID:28492532 11790549 TTN titin gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:17344846|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27588451|PMID:27854218|PMID:28492532|PMID:29099038|PMID:30985088|PMID:31481236|PMID:31795264 11790549 TTN titin gene DOID:9003163 Heart Block ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:25741868 11790549 TTN titin gene DOID:9003631 Diastolic Dysfunction ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diastolic dysfunction 11790549 TTN titin gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:25741868|PMID:26467025|PMID:28492532 11790549 TTN titin gene DOID:9005141 Ventricular Tachycardia ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:17344846|PMID:18414213|PMID:23396983|PMID:23675308|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25741868|PMID:26467025|PMID:26516846|PMID:26597493|PMID:27066551|PMID:28492532|PMID:28822653|PMID:29221435 11790549 TTN titin gene DOID:9005532 Muscle Weakness ISO RGD:1605120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17444505 11790549 TTN titin gene DOID:9005603 Muscle Hypotonia ISO RGD:1605120 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:23861362|PMID:24033266|PMID:24459294|PMID:25741868|PMID:26272908|PMID:26467025|PMID:26498160|PMID:28492532|PMID:28750076|PMID:29961767 11790549 TTN titin gene DOID:9006785 Congenital Myopathy 5 with Cardiomyopathy ISO RGD:1605120 D RGD:7240710 20180130 OMIM 11790549 TTN titin gene DOID:9006785 Congenital Myopathy 5 with Cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY | ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy | ClinVar Annotator: match by term: Salih Myopathy PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22238790|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23518707|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25741882|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28851873|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30666435|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34135346|PMID:34137518|PMID:34540771|PMID:34782754|PMID:35207729|PMID:9536098|PMID:9804419 11790549 TTN titin gene DOID:9007 sudden infant death syndrome ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:17344846|PMID:22335739|PMID:23975875|PMID:24033266|PMID:25589632|PMID:25741868|PMID:26467025|PMID:28492532 11790549 TTN titin gene DOID:9007033 Ventricular Premature Complexes ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28831623 11790549 TTN titin gene DOID:9007102 Myocardial Ischemia ISO RGD:621114 D RGD:9068941 20200609 RGD PMID:12221049|REF_RGD_ID:1580780 11790549 TTN titin gene DOID:9007661 Dwarfism ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 11790549 TTN titin gene DOID:9007925 Sudden Cardiac Death ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death PMID:19608031|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 11790549 TTN titin gene DOID:9008952 Breast Cancer, Familial ISO RGD:1605120 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 11790549 TTN titin gene DOID:92 speech disorder ISO RGD:1605120 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Speech disorder PMID:23861362|PMID:24033266|PMID:24459294|PMID:25741868|PMID:26272908|PMID:26467025|PMID:26498160|PMID:28492532|PMID:28750076|PMID:29961767 11790549 TTN titin gene DOID:9651 systolic heart failure ISO RGD:1605120 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Systolic heart failure PMID:23861362|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26467025|PMID:26516846|PMID:28492532 11790549 TTN titin gene DOID:988 mitral valve prolapse ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitral valve prolapse PMID:22335739|PMID:23975875|PMID:25589632|PMID:28492532 11790549 TTN titin gene DOID:9884 muscular dystrophy ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:24033266|PMID:25589632|PMID:25741868|PMID:27493940|PMID:28492532|PMID:32778822 11790861 SERPINB2 serpin family B member 2 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1343432 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11790861 SERPINB2 serpin family B member 2 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1343432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 11790861 SERPINB2 serpin family B member 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1343432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 11790861 SERPINB2 serpin family B member 2 gene DOID:574 peripheral nervous system disease ISO RGD:1343432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 11790861 SERPINB2 serpin family B member 2 gene DOID:630 genetic disease ISO RGD:1343432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11790861 SERPINB2 serpin family B member 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1343432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11790861 SERPINB2 serpin family B member 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1343432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 11790875 TPMT thiopurine S-methyltransferase gene DOID:0050589 inflammatory bowel disease treatment ISO RGD:1350168 D RGD:9068941 20200609 RGD PMID:17026564|REF_RGD_ID:11038726 11790875 TPMT thiopurine S-methyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:1350168 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11790875 TPMT thiopurine S-methyltransferase gene DOID:0080172 thiopurine S-methyltransferase deficiency ISO RGD:1350168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thiopurine methyltransferase deficiency PMID:10208641|PMID:10751626|PMID:15819814|PMID:16476125|PMID:17885628|PMID:1960624|PMID:7862671|PMID:8561894|PMID:8644731|PMID:9177237|PMID:9246020|PMID:9931345|PMID:9931346 11790875 TPMT thiopurine S-methyltransferase gene DOID:1227 neutropenia ISO RGD:1350168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18662289 11790875 TPMT thiopurine S-methyltransferase gene DOID:3534 Lafora disease ISO RGD:1350168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lafora disease PMID:15781812|PMID:17389303|PMID:23317923|PMID:28492532 11790875 TPMT thiopurine S-methyltransferase gene DOID:615 leukopenia ISO RGD:1350168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18662289|PMID:22535280|PMID:25108385 11790875 TPMT thiopurine S-methyltransferase gene DOID:615 leukopenia ISO RGD:1350168 D RGD:9068941 20200609 RGD PMID:16044099|PMID:24322830|REF_RGD_ID:11038721|REF_RGD_ID:11038725 11790875 TPMT thiopurine S-methyltransferase gene DOID:615 leukopenia ISO RGD:1350168 D RGD:9068941 20200609 RGD DNA:SNP:exon:719A>G (human) PMID:20308917|REF_RGD_ID:11038727 11790875 TPMT thiopurine S-methyltransferase gene DOID:615 leukopenia no_association ISO RGD:1350168 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple PMID:20308917|REF_RGD_ID:11038727 11790875 TPMT thiopurine S-methyltransferase gene DOID:630 genetic disease ISO RGD:1350168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11790875 TPMT thiopurine S-methyltransferase gene DOID:9004283 Transplant Rejection ISO RGD:1350168 D RGD:9068941 20200609 RGD PMID:24121523|REF_RGD_ID:11038722 11790875 TPMT thiopurine S-methyltransferase gene DOID:9004673 Hearing Loss, Cisplatin-Induced ISO RGD:1350168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19898482 11790875 TPMT thiopurine S-methyltransferase gene DOID:9006969 Poor Metabolism of Thiopurines, 1 ISO RGD:1350168 D RGD:7240710 20190327 OMIM 11790875 TPMT thiopurine S-methyltransferase gene DOID:987 alopecia ISO RGD:1350168 D RGD:9068941 20200609 RGD PMID:24322830|REF_RGD_ID:11038725 11790875 TPMT thiopurine S-methyltransferase gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:1350168 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:24499706|REF_RGD_ID:11038723 11790875 TPMT thiopurine S-methyltransferase gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:1350168 D RGD:9068941 20200609 RGD DNA:SNPs:introns:12356C>T, 16638C>T, 26354G>T (rs4449636, rs2518463, rs2842949) (human) PMID:22009189|REF_RGD_ID:10766474 11790875 TPMT thiopurine S-methyltransferase gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:1350168 D RGD:9068941 20200609 RGD DNA:SNPs:exon:374C>T, 719A>G (rs2842934, rs1142345) (human) PMID:22009189|REF_RGD_ID:10766474 11790875 TPMT thiopurine S-methyltransferase gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:1350168 D RGD:9068941 20200609 RGD DNA:SNPs:multiple PMID:17164697|REF_RGD_ID:11038720 11790899 DNAJC27 DnaJ heat shock protein family (Hsp40) member C27 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1602712 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 11790899 DNAJC27 DnaJ heat shock protein family (Hsp40) member C27 gene DOID:630 genetic disease ISO RGD:1602712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11790940 ZFP2 ZFP2 zinc finger protein gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604799 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11790940 ZFP2 ZFP2 zinc finger protein gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1604799 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11790940 ZFP2 ZFP2 zinc finger protein gene DOID:0112103 Sotos syndrome 1 ISO RGD:1604799 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11790940 ZFP2 ZFP2 zinc finger protein gene DOID:630 genetic disease ISO RGD:1604799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11790976 TCF21 transcription factor 21 gene DOID:1657 ventricular septal defect susceptibility ISO RGD:1351692 D RGD:9068941 20230429 RGD DNA:SNPs:3'UTR: (rs12190287) (human) PMID:28346832|REF_RGD_ID:329337362 11790976 TCF21 transcription factor 21 gene DOID:3393 coronary artery disease ISO RGD:1351692 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990|PMID:22751097 11790976 TCF21 transcription factor 21 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1351692 D RGD:9068941 20230429 RGD DNA:SNP: (rs12190287) (human) PMID:26909569|REF_RGD_ID:329337364 11790976 TCF21 transcription factor 21 gene DOID:630 genetic disease ISO RGD:1351692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11790976 TCF21 transcription factor 21 gene DOID:9007614 Paroxysmal Atrial Fibrillation susceptibility ISO RGD:1351692 D RGD:9068941 20230429 RGD DNA:SNPs: T>C, C>G(rs2327429, rs12190287) (human) PMID:35601004|REF_RGD_ID:329337356 11790986 STX12 syntaxin 12 gene DOID:630 genetic disease ISO RGD:737034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791003 LEFTY2 left-right determination factor 2 gene DOID:0050545 visceral heterotaxy ISO RGD:1348079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visceral heterotaxy 11791003 LEFTY2 left-right determination factor 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1348079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11791003 LEFTY2 left-right determination factor 2 gene DOID:630 genetic disease ISO RGD:1348079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28166811|PMID:28492532 11791003 LEFTY2 left-right determination factor 2 gene DOID:9004205 Left-Right Axis Malformations ISO RGD:1348079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left-right axis malformations PMID:10053005|PMID:25741868|PMID:28166811|PMID:28492532 11791003 LEFTY2 left-right determination factor 2 gene DOID:9007456 Female Infertility ISO RGD:1348079 D RGD:9068941 20200609 RGD PMID:10902804|REF_RGD_ID:1598793 11791003 LEFTY2 left-right determination factor 2 gene DOID:9007653 Multiple Abnormalities ISO RGD:1348079 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10053005 11791003 LEFTY2 left-right determination factor 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11791011 FOXF1 forkhead box F1 gene DOID:0111985 immunodeficiency 32B ISO RGD:1348211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 32B PMID:28492532 11791011 FOXF1 forkhead box F1 gene DOID:114 heart disease ISO RGD:1348211 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormal cardiac atrium morphology PMID:25741868 11791011 FOXF1 forkhead box F1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1348211 D RGD:7240710 20180130 OMIM 11791011 FOXF1 forkhead box F1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1348211 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alveolar capillary dysplasia with misalignment of pulmonary veins | ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia PMID:15520767|PMID:19500772|PMID:23505205|PMID:24033266|PMID:25741868|PMID:27071622|PMID:27439648|PMID:28469849|PMID:28492532|PMID:30380203 11791011 FOXF1 forkhead box F1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1348211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension PMID:19500772|PMID:19592680|PMID:19812545|PMID:20425831|PMID:22766610|PMID:23034409|PMID:23074687|PMID:23335808|PMID:23505205|PMID:23943206|PMID:24033266|PMID:24842713|PMID:26462560 11791011 FOXF1 forkhead box F1 gene DOID:14679 VACTERL association ISO RGD:1348211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: VATER association PMID:2629409|PMID:26294094 11791011 FOXF1 forkhead box F1 gene DOID:1657 ventricular septal defect ISO RGD:1348211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:25741868 11791011 FOXF1 forkhead box F1 gene DOID:2320 obstructive lung disease ISO RGD:1348211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18421012 11791011 FOXF1 forkhead box F1 gene DOID:350 mastocytosis ISO RGD:1348211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18421012 11791011 FOXF1 forkhead box F1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1348211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27663689 11791011 FOXF1 forkhead box F1 gene DOID:630 genetic disease ISO RGD:1348211 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11791011 FOXF1 forkhead box F1 gene DOID:9000179 Infantile Hypertrophic Pyloric Stenosis 5 ISO RGD:1348211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyloric stenosis, infantile hypertrophic, 5 11791011 FOXF1 forkhead box F1 gene DOID:9000807 Megaduodenum ISO RGD:1348211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal megacystis PMID:25741868 11791011 FOXF1 forkhead box F1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11791017 STRADA STE20 related adaptor alpha gene DOID:0050902 medulloblastoma ISO RGD:1606991 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21652733 11791017 STRADA STE20 related adaptor alpha gene DOID:1826 epilepsy ISO RGD:1606991 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868|PMID:33605605 11791017 STRADA STE20 related adaptor alpha gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1606991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:28492532|PMID:29358611 11791017 STRADA STE20 related adaptor alpha gene DOID:630 genetic disease ISO RGD:1606991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11791017 STRADA STE20 related adaptor alpha gene DOID:9006920 Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy ISO RGD:1606991 D RGD:7240710 20180130 OMIM 11791017 STRADA STE20 related adaptor alpha gene DOID:9006920 Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy ISO RGD:1606991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyhydramnios, megalencephaly, and symptomatic epilepsy PMID:16199547|PMID:17522105|PMID:17576681|PMID:20424326|PMID:25741868|PMID:27170158|PMID:28492532|PMID:29358611|PMID:33605605|PMID:9536098 11791057 TRIM60 tripartite motif containing 60 gene DOID:630 genetic disease ISO RGD:1350779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791064 MED27 mediator complex subunit 27 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1349942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11791064 MED27 mediator complex subunit 27 gene DOID:1059 intellectual disability ISO RGD:1349942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11791064 MED27 mediator complex subunit 27 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1349942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11791064 MED27 mediator complex subunit 27 gene DOID:630 genetic disease ISO RGD:1349942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791064 MED27 mediator complex subunit 27 gene DOID:9003448 NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA ISO RGD:1349942 D RGD:7240710 20210519 OMIM 11791064 MED27 mediator complex subunit 27 gene DOID:9003448 NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA ISO RGD:1349942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia PMID:33443317 11791079 TSPAN19 tetraspanin 19 gene DOID:630 genetic disease ISO RGD:1606713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791090 CIMAP1A ciliary microtubule associated protein 1A gene DOID:630 genetic disease ISO RGD:1320693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791107 TFAM transcription factor A, mitochondrial gene DOID:0080337 mitochondrial DNA depletion syndrome 15 ISO RGD:1605718 D RGD:7240710 20190315 OMIM 11791107 TFAM transcription factor A, mitochondrial gene DOID:0080337 mitochondrial DNA depletion syndrome 15 ISO RGD:1605718 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) PMID:25741868|PMID:27448789|PMID:28492532 11791107 TFAM transcription factor A, mitochondrial gene DOID:0080855 Parkinsonism ISO RGD:733567 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum PMID:22040668|REF_RGD_ID:6484267 11791107 TFAM transcription factor A, mitochondrial gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:1605718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 11791107 TFAM transcription factor A, mitochondrial gene DOID:10003 sensorineural hearing loss ISO RGD:1605718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 11791107 TFAM transcription factor A, mitochondrial gene DOID:10652 Alzheimer's disease ISO RGD:1605718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17192785 11791107 TFAM transcription factor A, mitochondrial gene DOID:10652 Alzheimer's disease ISO RGD:1605718 D RGD:9068941 20200609 RGD DNA:SNP: :rs1937 (human) PMID:21799244|REF_RGD_ID:6767575 11791107 TFAM transcription factor A, mitochondrial gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1605718 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS4+113A>G (rs2306604) (human) PMID:17537576|REF_RGD_ID:6771185 11791107 TFAM transcription factor A, mitochondrial gene DOID:12858 Huntington's disease ISO RGD:1605718 D RGD:9068941 20200609 RGD PMID:21595933|REF_RGD_ID:6770890 11791107 TFAM transcription factor A, mitochondrial gene DOID:12858 Huntington's disease ISO RGD:733567 D RGD:9068941 20200609 RGD mRNA:decreased expression:striatum PMID:20529956|REF_RGD_ID:6771173 11791107 TFAM transcription factor A, mitochondrial gene DOID:12934 Kearns-Sayre syndrome ISO RGD:733567 D RGD:9068941 20220825 MouseDO OMIM:530000 11791107 TFAM transcription factor A, mitochondrial gene DOID:13548 secondary Parkinson disease ISO RGD:1605718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28595911 11791107 TFAM transcription factor A, mitochondrial gene DOID:14330 Parkinson's disease ISO RGD:733567 D RGD:9068941 20220825 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 11791107 TFAM transcription factor A, mitochondrial gene DOID:14330 Parkinson's disease no_association ISO RGD:1605718 D RGD:9068941 20200609 RGD DNA:missense mutation, SNP:exon, intron:p.S12T, IVS4+113A>G (rs1937, rs2306604) (human) PMID:17537576|REF_RGD_ID:6771185 11791107 TFAM transcription factor A, mitochondrial gene DOID:14330 Parkinson's disease no_association ISO RGD:1605718 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.S12T (rs1937) (human) PMID:18248889|REF_RGD_ID:6771184 11791107 TFAM transcription factor A, mitochondrial gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1605718 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS4+113A>G (rs2306604) (human) PMID:19925850|REF_RGD_ID:14389730 11791107 TFAM transcription factor A, mitochondrial gene DOID:1824 status epilepticus ISO RGD:620682 D RGD:9068941 20200609 RGD PMID:21854834|REF_RGD_ID:6767574 11791107 TFAM transcription factor A, mitochondrial gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:1605718 D RGD:9068941 20200609 RGD PMID:22354563|REF_RGD_ID:6767572 11791107 TFAM transcription factor A, mitochondrial gene DOID:630 genetic disease ISO RGD:1605718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11791107 TFAM transcription factor A, mitochondrial gene DOID:9000761 Deoxyguanosine Kinase Deficiency ISO RGD:1605718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome, hepatocerebral form PMID:27448789 11791107 TFAM transcription factor A, mitochondrial gene DOID:9001708 Hemorrhagic Shock ISO RGD:620682 D RGD:9068941 20200609 RGD PMID:22469910|REF_RGD_ID:6767567 11791107 TFAM transcription factor A, mitochondrial gene DOID:9002906 Multiple Organ Failure ISO RGD:1605718 D RGD:9068941 20200609 RGD associated with Sepsis;protein:increased expression:skeletal muscle PMID:18997871|REF_RGD_ID:6771188 11791107 TFAM transcription factor A, mitochondrial gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620682 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:18723421|REF_RGD_ID:2302400 11791107 TFAM transcription factor A, mitochondrial gene DOID:9004009 Reperfusion Injury ISO RGD:620682 D RGD:9068941 20200609 RGD PMID:22266265|REF_RGD_ID:6767573 11791107 TFAM transcription factor A, mitochondrial gene DOID:9005372 Inflammation ISO RGD:620682 D RGD:9068941 20200609 RGD PMID:22469910|REF_RGD_ID:6767567 11791107 TFAM transcription factor A, mitochondrial gene DOID:9006205 Animal Disease Models ISO RGD:1605718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28595911 11791107 TFAM transcription factor A, mitochondrial gene DOID:9007170 Bowen's Disease ISO RGD:1605718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21514422 11791107 TFAM transcription factor A, mitochondrial gene DOID:9007346 Cachexia ISO RGD:1605718 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive (COPD, MeSH:D029424); RNA, protein:decreased expression:skeletal muscle PMID:17459894|REF_RGD_ID:5683621 11791107 TFAM transcription factor A, mitochondrial gene DOID:9970 obesity ISO RGD:1605718 D RGD:9068941 20200609 RGD PMID:21862610|REF_RGD_ID:5683906 11791117 DRC3 dynein regulatory complex subunit 3 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1606494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 11791117 DRC3 dynein regulatory complex subunit 3 gene DOID:0050777 Joubert syndrome ISO RGD:1606494 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11791117 DRC3 dynein regulatory complex subunit 3 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1606494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 11791117 DRC3 dynein regulatory complex subunit 3 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1606494 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 11791117 DRC3 dynein regulatory complex subunit 3 gene DOID:12849 autistic disorder ISO RGD:1606494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11791117 DRC3 dynein regulatory complex subunit 3 gene DOID:630 genetic disease ISO RGD:1606494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791135 SEPTIN7 septin 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11791135 SEPTIN7 septin 7 gene DOID:630 genetic disease ISO RGD:1604654 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791169 TMCO4 transmembrane and coiled-coil domains 4 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1606122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11791169 TMCO4 transmembrane and coiled-coil domains 4 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606122 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11791169 TMCO4 transmembrane and coiled-coil domains 4 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1606122 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11791169 TMCO4 transmembrane and coiled-coil domains 4 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1606122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11791169 TMCO4 transmembrane and coiled-coil domains 4 gene DOID:630 genetic disease ISO RGD:1606122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791169 TMCO4 transmembrane and coiled-coil domains 4 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1606122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11791191 PFDN1 prefoldin subunit 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1313729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11791191 PFDN1 prefoldin subunit 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11791191 PFDN1 prefoldin subunit 1 gene DOID:630 genetic disease ISO RGD:1313729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791191 PFDN1 prefoldin subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11791191 PFDN1 prefoldin subunit 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11791200 KIAA0232 KIAA0232 ortholog gene DOID:630 genetic disease ISO RGD:1602497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791224 SLC25A47 solute carrier family 25 member 47 gene DOID:10283 prostate cancer ISO RGD:1345966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11791224 SLC25A47 solute carrier family 25 member 47 gene DOID:630 genetic disease ISO RGD:1345966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791224 SLC25A47 solute carrier family 25 member 47 gene DOID:684 hepatocellular carcinoma ISO RGD:1345966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11791234 EIF5A2 eukaryotic translation initiation factor 5A2 gene DOID:1062 Fanconi syndrome ISO RGD:1314674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 11791234 EIF5A2 eukaryotic translation initiation factor 5A2 gene DOID:630 genetic disease ISO RGD:1314674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791234 EIF5A2 eukaryotic translation initiation factor 5A2 gene DOID:9002644 Premature Aging ISO RGD:1314674 D RGD:9068941 20200609 RGD PMID:21612665|REF_RGD_ID:10395359 11791244 CACNA1G calcium voltage-gated channel subunit alpha1 G gene DOID:0050753 cerebellar ataxia ISO RGD:68989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 11791244 CACNA1G calcium voltage-gated channel subunit alpha1 G gene DOID:0050952 spastic ataxia ISO RGD:68989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 11791244 CACNA1G calcium voltage-gated channel subunit alpha1 G gene DOID:0111742 cerebellar ataxia type 42 ISO RGD:68989 D RGD:7240710 20190315 OMIM 11791244 CACNA1G calcium voltage-gated channel subunit alpha1 G gene DOID:0111742 cerebellar ataxia type 42 ISO RGD:68989 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 42 PMID:25741868|PMID:26456284|PMID:26715324|PMID:28490766|PMID:28492532|PMID:29629410|PMID:29878067|PMID:32736238|PMID:32860008|PMID:32878331 11791244 CACNA1G calcium voltage-gated channel subunit alpha1 G gene DOID:1059 intellectual disability ISO RGD:68989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11791244 CACNA1G calcium voltage-gated channel subunit alpha1 G gene DOID:1826 epilepsy ISO RGD:68989 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11791244 CACNA1G calcium voltage-gated channel subunit alpha1 G gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:68989 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cholestanol storage disease PMID:25741868 11791244 CACNA1G calcium voltage-gated channel subunit alpha1 G gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:68989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile myoclonic epilepsy 11791244 CACNA1G calcium voltage-gated channel subunit alpha1 G gene DOID:630 genetic disease ISO RGD:68989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29878067|PMID:32736238|PMID:32878331 11791244 CACNA1G calcium voltage-gated channel subunit alpha1 G gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:68989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11791244 CACNA1G calcium voltage-gated channel subunit alpha1 G gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:29878067 11791244 CACNA1G calcium voltage-gated channel subunit alpha1 G gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:68942 D RGD:9068941 20200609 RGD mRNA:increased expression:ventricle (rat) PMID:14615287|REF_RGD_ID:2316207 11791244 CACNA1G calcium voltage-gated channel subunit alpha1 G gene DOID:9008582 Developmental Disease ISO RGD:68989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11791244 CACNA1G calcium voltage-gated channel subunit alpha1 G gene DOID:9009231 Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits ISO RGD:68989 D RGD:7240710 20190315 OMIM 11791244 CACNA1G calcium voltage-gated channel subunit alpha1 G gene DOID:9009231 Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits ISO RGD:68989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits PMID:25741868|PMID:28492532|PMID:29878067|PMID:30792901|PMID:31217264|PMID:31836334 11791244 CACNA1G calcium voltage-gated channel subunit alpha1 G gene DOID:936 brain disease ISO RGD:68989 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 11791285 ZAR1 zygote arrest 1 gene DOID:630 genetic disease ISO RGD:1351487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791293 RNLS renalase, FAD dependent amine oxidase gene DOID:0050851 glomerulosclerosis ISO RGD:1309804 D RGD:9068941 20200609 RGD PMID:24022426|REF_RGD_ID:7327155 11791293 RNLS renalase, FAD dependent amine oxidase gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1320337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9286463|PMID:9467011 11791293 RNLS renalase, FAD dependent amine oxidase gene DOID:1063 interstitial nephritis ISO RGD:1309804 D RGD:9068941 20200609 RGD PMID:24022426|REF_RGD_ID:7327155 11791293 RNLS renalase, FAD dependent amine oxidase gene DOID:10763 hypertension ISO RGD:1320337 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus Type 2; DNA:SNPs: : rs2296545,rs2576178 (human) PMID:21964580|REF_RGD_ID:7327172 11791293 RNLS renalase, FAD dependent amine oxidase gene DOID:10763 hypertension ISO RGD:1320337 D RGD:9068941 20200609 RGD associated with kidney Failure,Chronic;DNA:SNPs: : rs2576178, rs10887800 (human) PMID:21617193|REF_RGD_ID:7327173 11791293 RNLS renalase, FAD dependent amine oxidase gene DOID:10763 hypertension ISO RGD:1320338 D RGD:9068941 20200609 RGD PMID:21178975|REF_RGD_ID:7327174 11791293 RNLS renalase, FAD dependent amine oxidase gene DOID:10825 essential hypertension ISO RGD:1320337 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2576178, rs2296545,rs2114406 (human) PMID:17216203|REF_RGD_ID:7327177 11791293 RNLS renalase, FAD dependent amine oxidase gene DOID:6000 congestive heart failure ISO RGD:1309804 D RGD:9068941 20200609 RGD PMID:21297953|REF_RGD_ID:7327162 11791293 RNLS renalase, FAD dependent amine oxidase gene DOID:630 genetic disease ISO RGD:1320337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11791293 RNLS renalase, FAD dependent amine oxidase gene DOID:783 end stage renal disease ISO RGD:1320337 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Stage 5 chronic kidney disease PMID:28492532 11791293 RNLS renalase, FAD dependent amine oxidase gene DOID:784 chronic kidney disease ISO RGD:1309804 D RGD:9068941 20200609 RGD protein, activity:decreased expression:plasma, heart, kidney: PMID:18299506|REF_RGD_ID:7327164 11791293 RNLS renalase, FAD dependent amine oxidase gene DOID:9005539 Familial Prostate Cancer ISO RGD:1320337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11791293 RNLS renalase, FAD dependent amine oxidase gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1320337 D RGD:9068941 20200609 RGD PMID:23393318|REF_RGD_ID:7327166 11791293 RNLS renalase, FAD dependent amine oxidase gene DOID:9007096 Stroke ISO RGD:1320337 D RGD:9068941 20200609 RGD DNA:SNP: : rs10887800 (human) PMID:21964580|REF_RGD_ID:7327172 11791293 RNLS renalase, FAD dependent amine oxidase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1320337 D RGD:9068941 20200609 RGD PMID:21178975|REF_RGD_ID:7327174 11791293 RNLS renalase, FAD dependent amine oxidase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1320338 D RGD:9068941 20200609 RGD PMID:21178975|REF_RGD_ID:7327174 11791293 Rnls renalase, FAD-dependent amine oxidase gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1320338 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:kidney,plasma: PMID:23393318|REF_RGD_ID:7327166 11791315 CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:10652 Alzheimer's disease ISO RGD:1553698 D RGD:9068941 20200609 RGD PMID:24725413|REF_RGD_ID:13782363 11791315 CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:10652 Alzheimer's disease ISO RGD:733787 D RGD:9068941 20200609 RGD PMID:28578378|REF_RGD_ID:13782362 11791315 CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:10652 Alzheimer's disease ISO RGD:733787 D RGD:9068941 20200609 RGD DNA:SNP:3' UTR:rs735555 (human) PMID:19154537|REF_RGD_ID:13782364 11791315 CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1553698 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 11791315 CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:12098 trigeminal neuralgia ISO RGD:629472 D RGD:9068941 20200609 RGD PMID:21161138|REF_RGD_ID:13782378 11791315 CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:1459 hypothyroidism ISO RGD:629472 D RGD:9068941 20200609 RGD PMID:22987596|REF_RGD_ID:13782376 11791315 CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:1561 cognitive disorder ISO RGD:733787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17581637 11791315 CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:1596 depressive disorder NOT ISO RGD:629472 D RGD:9068941 20200609 RGD PMID:21682945|REF_RGD_ID:13782377 11791315 CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:630 genetic disease ISO RGD:733787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791315 CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:9002138 Spinal Cord Reperfusion Injury treatment ISO RGD:629472 D RGD:9068941 20200609 RGD PMID:25301568|REF_RGD_ID:13782374 11791315 CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:9002955 Nerve Degeneration ISO RGD:733787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17581637 11791315 CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:629472 D RGD:9068941 20200609 RGD PMID:25665755|REF_RGD_ID:13782373 11791315 CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:936 brain disease ISO RGD:733787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15665076 11791320 NME3 NME/NM23 nucleoside diphosphate kinase 3 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:733554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 11791320 NME3 NME/NM23 nucleoside diphosphate kinase 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:733554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11791320 NME3 NME/NM23 nucleoside diphosphate kinase 3 gene DOID:1826 epilepsy ISO RGD:733554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11791320 NME3 NME/NM23 nucleoside diphosphate kinase 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:733554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11791320 NME3 NME/NM23 nucleoside diphosphate kinase 3 gene DOID:630 genetic disease ISO RGD:733554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11791339 LOC100985735 olfactory receptor 5D18 gene DOID:1059 intellectual disability ISO RGD:1345975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11791339 LOC100985735 olfactory receptor 5D18 gene DOID:630 genetic disease ISO RGD:1345975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791340 ZNF627 zinc finger protein 627 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1347134 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11791340 ZNF627 zinc finger protein 627 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1347134 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11791340 ZNF627 zinc finger protein 627 gene DOID:0111254 glutaric acidemia I ISO RGD:1347134 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11791340 ZNF627 zinc finger protein 627 gene DOID:3413 alpha-mannosidosis ISO RGD:1347134 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11791340 ZNF627 zinc finger protein 627 gene DOID:630 genetic disease ISO RGD:1347134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791356 TWSG1 twisted gastrulation BMP signaling modulator 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1322557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11791356 TWSG1 twisted gastrulation BMP signaling modulator 1 gene DOID:1059 intellectual disability ISO RGD:1322557 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11791356 TWSG1 twisted gastrulation BMP signaling modulator 1 gene DOID:4621 holoprosencephaly ISO RGD:1322557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15013800 11791356 TWSG1 twisted gastrulation BMP signaling modulator 1 gene DOID:543 dystonia ISO RGD:1322557 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 11791356 TWSG1 twisted gastrulation BMP signaling modulator 1 gene DOID:9000066 Jaw Abnormalities ISO RGD:1322557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15013800 11791364 CSDC2 cold shock domain containing C2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1603657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11791364 CSDC2 cold shock domain containing C2 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1603657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 11791364 CSDC2 cold shock domain containing C2 gene DOID:630 genetic disease ISO RGD:1603657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791372 NXPE1 neurexophilin and PC-esterase domain family member 1 gene DOID:1059 intellectual disability ISO RGD:1352335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11791372 NXPE1 neurexophilin and PC-esterase domain family member 1 gene DOID:630 genetic disease ISO RGD:1352335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791372 NXPE1 neurexophilin and PC-esterase domain family member 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1352335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11791386 ZFHX4 zinc finger homeobox 4 gene DOID:630 genetic disease ISO RGD:1346362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791386 ZFHX4 zinc finger homeobox 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346362 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:16946494|PMID:21802062|PMID:24033266|PMID:24440720|PMID:25741868|PMID:33057194 11791386 ZFHX4 zinc finger homeobox 4 gene DOID:9004781 Congenital Ptosis, Hereditary 1 ISO RGD:1346362 D RGD:7240710 20180130 OMIM 11791386 ZFHX4 zinc finger homeobox 4 gene DOID:9004781 Congenital Ptosis, Hereditary 1 ISO RGD:1346362 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ptosis, hereditary congenital, 1 PMID:25741868|PMID:28492532 11791448 FGF14 fibroblast growth factor 14 gene DOID:0050976 spinocerebellar ataxia type 27 ISO RGD:1343584 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Nystagmus 4, congenital, autosomal dominant | ClinVar Annotator: match by term: Spinocerebellar ataxia type 27 PMID:12489043|PMID:15470364|PMID:17978045|PMID:194719761|PMID:21681106|PMID:25566820|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30017992|PMID:32162847|PMID:5470364 11791448 FGF14 fibroblast growth factor 14 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1343584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 11791448 FGF14 fibroblast growth factor 14 gene DOID:1222 cartilage disease ISO RGD:1343584 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11241832 11791448 FGF14 fibroblast growth factor 14 gene DOID:12849 autistic disorder ISO RGD:1343584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 11791448 FGF14 fibroblast growth factor 14 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1343584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia 11791448 FGF14 fibroblast growth factor 14 gene DOID:14701 propionic acidemia ISO RGD:1343584 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 11791448 FGF14 fibroblast growth factor 14 gene DOID:1561 cognitive disorder ISO RGD:1343584 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26089778 11791448 FGF14 fibroblast growth factor 14 gene DOID:630 genetic disease ISO RGD:1343584 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11791448 FGF14 fibroblast growth factor 14 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1343584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11791448 FGF14 fibroblast growth factor 14 gene DOID:9006316 Spinocerebellar Ataxia 27A ISO RGD:1343584 D RGD:7240710 20230104 OMIM 11791448 FGF14 fibroblast growth factor 14 gene DOID:9006713 Spinocerebellar Ataxia 27B ISO RGD:1343584 D RGD:7240710 20230104 OMIM 11791448 FGF14 fibroblast growth factor 14 gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:1343584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532 11791459 RPH3A rabphilin 3A gene DOID:0080600 COVID-19 ISO RGD:1347244 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11791459 RPH3A rabphilin 3A gene DOID:630 genetic disease ISO RGD:1347244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791505 RSU1 Ras suppressor protein 1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1313402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11791505 RSU1 Ras suppressor protein 1 gene DOID:11476 osteoporosis ISO RGD:1313402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 11791505 RSU1 Ras suppressor protein 1 gene DOID:630 genetic disease ISO RGD:1313402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791505 RSU1 Ras suppressor protein 1 gene DOID:9001341 Chloracne ISO RGD:1313402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 11791518 GID8 GID complex subunit 8 homolog gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11791518 GID8 GID complex subunit 8 homolog gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1346039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11791518 GID8 GID complex subunit 8 homolog gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1346039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11791518 GID8 GID complex subunit 8 homolog gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1346039 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11791518 GID8 GID complex subunit 8 homolog gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11791518 GID8 GID complex subunit 8 homolog gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1346039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 11791518 GID8 GID complex subunit 8 homolog gene DOID:630 genetic disease ISO RGD:1346039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791536 CCDC113 coiled-coil domain containing 113 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11791536 CCDC113 coiled-coil domain containing 113 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11791536 CCDC113 coiled-coil domain containing 113 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11791536 CCDC113 coiled-coil domain containing 113 gene DOID:630 genetic disease ISO RGD:1606018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791557 MRPS31 mitochondrial ribosomal protein S31 gene DOID:630 genetic disease ISO RGD:1316990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791573 TMEM35B transmembrane protein 35B gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:5132761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11791573 TMEM35B transmembrane protein 35B gene DOID:630 genetic disease ISO RGD:5132761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791585 TSSK2 testis specific serine kinase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1606567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11791585 TSSK2 testis specific serine kinase 2 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1606567 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 11791585 TSSK2 testis specific serine kinase 2 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1606567 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 11791585 TSSK2 testis specific serine kinase 2 gene DOID:0111996 immunodeficiency 51 ISO RGD:1606567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11791585 TSSK2 testis specific serine kinase 2 gene DOID:1059 intellectual disability ISO RGD:1606567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11791585 TSSK2 testis specific serine kinase 2 gene DOID:11198 DiGeorge syndrome ISO RGD:1606567 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 11791585 TSSK2 testis specific serine kinase 2 gene DOID:11372 megacolon ISO RGD:1606567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11791585 TSSK2 testis specific serine kinase 2 gene DOID:12583 velocardiofacial syndrome ISO RGD:1606567 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 11791585 TSSK2 testis specific serine kinase 2 gene DOID:12849 autistic disorder ISO RGD:1606567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11791585 TSSK2 testis specific serine kinase 2 gene DOID:1826 epilepsy ISO RGD:1606567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11791585 TSSK2 testis specific serine kinase 2 gene DOID:5419 schizophrenia ISO RGD:1606567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11791585 TSSK2 testis specific serine kinase 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1606567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11791585 TSSK2 testis specific serine kinase 2 gene DOID:630 genetic disease ISO RGD:1606567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791585 TSSK2 testis specific serine kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11791585 TSSK2 testis specific serine kinase 2 gene DOID:9007661 Dwarfism ISO RGD:1606567 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11791585 TSSK2 testis specific serine kinase 2 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1606567 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11791600 CXHXorf65 chromosome X CXorf65 homolog gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11791600 CXHXorf65 chromosome X CXorf65 homolog gene DOID:12849 autistic disorder ISO RGD:1606442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11791600 CXHXorf65 chromosome X CXorf65 homolog gene DOID:630 genetic disease ISO RGD:1606442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791600 CXHXorf65 chromosome X CXorf65 homolog gene DOID:9007898 FG Syndrome 1 ISO RGD:1606442 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:0050861 colorectal adenocarcinoma treatment ISO RGD:732968 D RGD:9068941 20220121 RGD associated with Neoplasm Metastasis; DNA:missense mutation:cds: p.R399Q, c.1196G>A (human) PMID:19908066|REF_RGD_ID:150573820 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:SNP: :p.R280H (human) PMID:26482462|REF_RGD_ID:11075607 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:0050908 myelodysplastic syndrome no_association ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:SNP: :p.R194W, p.R399Q (human) PMID:26482462|REF_RGD_ID:11075607 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:732968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:0080199 colorectal carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20211224 RGD DNA:SNPs:exon 6, exon 10: p.R194W, p.R399Q (human) PMID:28638257|REF_RGD_ID:150539031 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:0080260 autosomal recessive spinocerebellar ataxia 26 ISO RGD:732968 D RGD:7240710 20190315 OMIM 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:0080260 autosomal recessive spinocerebellar ataxia 26 ISO RGD:732968 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 26 PMID:16875718|PMID:19362955|PMID:20530282|PMID:21057378|PMID:22026922|PMID:22188361|PMID:22761669|PMID:22992668|PMID:24224851|PMID:24446315|PMID:25025378|PMID:25232828|PMID:25741868|PMID:27248474|PMID:27636246|PMID:28002403|PMID:28422153|PMID:28743242|PMID:29662106 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R399Q PMID:17491266|REF_RGD_ID:2302571 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:10534 stomach cancer ameliorates ISO RGD:732968 D RGD:9068941 20220811 RGD DNA:missense mutation:CDS:p.R399Q (human) PMID:23604281|REF_RGD_ID:150530625 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:732968 D RGD:9068941 20220107 RGD DNA:SNP:exon 10: p.R399Q, 399G>A(human) PMID:21378360|REF_RGD_ID:150540335 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:10534 stomach cancer susceptibility ISO RGD:732968 D RGD:9068941 20211217 RGD DNA:SNP:: p.R194W (human) PMID:27706710|REF_RGD_ID:150530630 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:10534 stomach cancer susceptibility ISO RGD:732968 D RGD:9068941 20211224 RGD DNA:SNPs:exon 6, exon 10: C>T p.R194W, G>A p.R399Q (human) PMID:27221877|REF_RGD_ID:150537038 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:10534 stomach cancer susceptibility ISO RGD:732968 D RGD:9068941 20211224 RGD DNA:SNPs:exon 9, exon 17: c.910A>G, c.1804C>A (human) PMID:23983608|REF_RGD_ID:150530647 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:10534 stomach cancer treatment ISO RGD:732968 D RGD:9068941 20211217 RGD DNA:SNP: 399A>G (human) PMID:26770441|REF_RGD_ID:150530623 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:10534 stomach cancer treatment ISO RGD:732968 D RGD:9068941 20220114 RGD DNA:missense mutation:cds: p.R399Q G>A (human) PMID:17593927|REF_RGD_ID:150573705 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:10534 stomach cancer treatment ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:missense mutation:cds: p.R194W (human) PMID:20331623|REF_RGD_ID:151232294 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:11054 urinary bladder cancer no_association ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple PMID:17425776|REF_RGD_ID:2302572 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R399Q PMID:18765423|REF_RGD_ID:2302568 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:732968 D RGD:9068941 20211217 RGD DNA:SNP: p.R399Q (human) PMID:18272472|REF_RGD_ID:150530493 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:11088 asphyxia neonatorum ISO RGD:619823 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:9763211|REF_RGD_ID:2302855 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:11832 visual epilepsy ISO RGD:619823 D RGD:9068941 20200609 RGD protein:increased expression:brain, neuron PMID:15854596|REF_RGD_ID:2302852 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:12336 male infertility ISO RGD:732968 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:30998386 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:12549 hepatitis A susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs1001581) (human) PMID:29558945|REF_RGD_ID:15036793 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:12549 hepatitis A susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R194W (rs1799782) (human) PMID:22135187|REF_RGD_ID:15014793 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:127 leiomyoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R399Q PMID:15760950|REF_RGD_ID:2302578 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer no_association ISO RGD:732968 D RGD:9068941 20220128 RGD DNA:missense mutation:cds: p.R399Q (human) PMID:15705867|REF_RGD_ID:151347439 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer onset ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:missense mutation:exon 10: p.R399Q (human) PMID:25584213|REF_RGD_ID:151347407 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer severity ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:missense mutation:exon 10: p.R399Q, 28152G>A (human) PMID:17952468|REF_RGD_ID:151347172 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer susceptibility ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:SNP:exon 10: c.1178G>A, p.R393H (human) PMID:24935603|REF_RGD_ID:11056906 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer susceptibility ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:missense mutation:exon 17: c.1804C>A, p.P602T (human) PMID:27323144|REF_RGD_ID:151236316 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer susceptibility ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:missense mutations:cds: p.R399Q, p.R194W (human) PMID:17531525|REF_RGD_ID:151347426 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer susceptibility ISO RGD:732968 D RGD:9068941 20220128 RGD DNA:SNP, haplotype:5'utr: 77T>C (rs3213245) (human) PMID:16652158|REF_RGD_ID:151232296 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer susceptibility ISO RGD:732968 D RGD:9068941 20220128 RGD DNA:SNPs, haplotypes:exon 6, exon 7: p.R194W, p.P206P (rs179978, rs915927) (human) PMID:19061777|REF_RGD_ID:151347416 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer susceptibility ISO RGD:732968 D RGD:9068941 20220128 RGD DNA:missense mutation:exon 10: p.R399Q (rs25487) (human) PMID:25038912|REF_RGD_ID:151347450 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:1790 malignant mesothelioma treatment ISO RGD:732968 D RGD:9068941 20220121 RGD PMID:22982660|REF_RGD_ID:151347428 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:1793 pancreatic cancer ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs1799782 (human) PMID:16520463|REF_RGD_ID:2317367 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:1875 impotence susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;DNA:polymorphism: :p.R280H PMID:18582155|REF_RGD_ID:2302570 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:2043 hepatitis B susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation, haplotype:cds:p.R399Q (human) PMID:23454624|REF_RGD_ID:15036794 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:619823 D RGD:9068941 20200609 RGD PMID:19840223|REF_RGD_ID:2325713 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:2600 laryngeal carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:SNPs, haplotype:: (rs3213403, rs1799778, rs3213282) (human) PMID:24956286|REF_RGD_ID:151236314 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:2600 laryngeal carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:missense mutation:cds: p.R280H (human) PMID:27808358|REF_RGD_ID:151236313 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:2671 transitional cell carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:SNP: :p.R194W PMID:18199464|REF_RGD_ID:2293824 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:2773 contact dermatitis susceptibility ISO RGD:732968 D RGD:9068941 20211231 RGD associated with nasopharynx carcinoma;DNA:SNP:cds: p.R399Q (human) PMID:23375119|REF_RGD_ID:150539032 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:3008 invasive ductal carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R399Q PMID:18752184|REF_RGD_ID:2302569 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:3070 high grade glioma ISO RGD:732968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25227852 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:3121 gallbladder cancer susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.R194W, p.R399Q (human) PMID:19266243|REF_RGD_ID:2317128 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:3571 liver cancer severity ISO RGD:732968 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:30088263|REF_RGD_ID:15036795 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16639733 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:3748 esophagus squamous cell carcinoma no_association ISO RGD:732968 D RGD:9068941 20220128 RGD DNA:missense mutation:cds: p.R399Q (human) PMID:11400117|REF_RGD_ID:151347444 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20220128 RGD DNA:SNPs,haplotypes:multiple (human) PMID:25710005|REF_RGD_ID:150530501 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:3748 esophagus squamous cell carcinoma treatment ISO RGD:732968 D RGD:9068941 20211217 RGD PMID:28356949|REF_RGD_ID:150530505 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:3748 esophagus squamous cell carcinoma treatment ISO RGD:732968 D RGD:9068941 20211224 RGD DNA:SNPs:exon 6, exon 9, exon 10:multiple (human) PMID:27123143|REF_RGD_ID:150530634 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:19157633 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:SNP:3'utr: (rs25487) (human) PMID:26345972|REF_RGD_ID:11251107 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:missense mutation:cds: p.R194W (human) PMID:26097609|REF_RGD_ID:11538163 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:missense mutations:cds:p.R194W, p.R399Q (human) PMID:25308691|REF_RGD_ID:151232295 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732968 D RGD:9068941 20210604 RGD DNA:missense mutation:p.R399Q (human) PMID:23549037|REF_RGD_ID:127229950 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732968 D RGD:9068941 20220121 RGD PMID:15301704|PMID:19157633|PMID:19958624|PMID:22152690|PMID:24446315|PMID:24782167|REF_RGD_ID:11097268|REF_RGD_ID:151232297|REF_RGD_ID:151347175|REF_RGD_ID:151347402|REF_RGD_ID:151347410|REF_RGD_ID:151347427 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:3910 lung adenocarcinoma severity ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:missense mutation:exon 10: p.R399Q (rs25487) (human) PMID:20003463|REF_RGD_ID:151347422 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:missense mutation:cds: p.R399Q (human) PMID:11104903|REF_RGD_ID:151347406 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:4362 cervical cancer ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R194W PMID:18851872|REF_RGD_ID:2302567 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:4440 seminoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R399Q PMID:16596238|REF_RGD_ID:2302576 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:SNP: :p.R399Q PMID:16510122|REF_RGD_ID:2302577 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:5041 esophageal cancer susceptibility ISO RGD:732968 D RGD:9068941 20220128 RGD DNA:missense mutation:exon 9: p.T304A, c.910A>G (human) PMID:24345911|REF_RGD_ID:150530620 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:missense mutation:cds:p.R194W (human) PMID:29935355|REF_RGD_ID:15036797 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD associated with Human Viral Hepatitis;DNA:missense mutation:cds:p.R399Q (rs25487) (human) PMID:24018491|REF_RGD_ID:14985244 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:missense mutation, haplotype:cds:p.R399Q (human) PMID:23454624|REF_RGD_ID:15036794 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:5419 schizophrenia ISO RGD:732968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:5517 stomach carcinoma onset ISO RGD:732968 D RGD:9068941 20211217 RGD DNA:SNP::p.R194W (human) PMID:20863780|REF_RGD_ID:150530627 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:6270 gastric cardia carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20211217 RGD DNA:SNP::p.R194W (human) PMID:20863780|REF_RGD_ID:150530627 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:6271 gastric cardia adenocarcinoma susceptibility ISO RGD:732968 D RGD:9068941 20211217 RGD DNA:SNP:cds: p.R399Q (human) PMID:16890595|REF_RGD_ID:150530492 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:630 genetic disease ISO RGD:732968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:732968 D RGD:9068941 20211217 RGD DNA:SNPs:cds: 194C>T, 280A>G (human) PMID:28927037|REF_RGD_ID:150530503 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma no_association ISO RGD:732968 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:missense mutation:cds:p.R399Q (human) PMID:29935355|REF_RGD_ID:15036797 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R399Q (28152G>A) (rs25487) (human) PMID:26918371|REF_RGD_ID:14985240 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R399Q (rs25487) (human) PMID:23534753|REF_RGD_ID:15014791 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:732968 D RGD:9068941 20220107 RGD associated with Chronic Hepatitis C;DNA:SNP:exon 14: c.1517G>C, p.506G>A (human) PMID:32334466|REF_RGD_ID:150540333 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:SNPs:exons:c.1254C>T, c.1517G>C (human) PMID:23984316|REF_RGD_ID:15014789 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:c.1804C>A (p.G506A) (human) PMID:24526467|REF_RGD_ID:14985242 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R399Q (human) PMID:22502666|REF_RGD_ID:14985243 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R399Q (rs25487) (human) PMID:28058700|PMID:29682247|REF_RGD_ID:14696702|REF_RGD_ID:14985238 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:c.482C>T, c.1178G>A (p.P161L, p.R393H) (human) PMID:24570146|REF_RGD_ID:14696772 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.R194W, p.R280H, p.R399Q (human) PMID:19194663|REF_RGD_ID:15014792 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:silent mutation, missense mutation:cds:c.1161G>A, c.1779C>G (p.L387L, p.S593R) (human) PMID:23493666|REF_RGD_ID:14696773 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:missense mutation:cds:p.R194W (human) PMID:29935355|REF_RGD_ID:15036797 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:missense mutation, haplotype:cds:p.R399Q (human) PMID:14519756|PMID:23454624|REF_RGD_ID:15014790|REF_RGD_ID:15036794 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20211217 RGD DNA:SNP:exon 13: c.1471G>A, p.E491K (human) PMID:24446299|REF_RGD_ID:150530624 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20220107 RGD DNA:SNPs:exon 9, exon 15: c.910A>G, c.1686C>G (human) PMID:24634229|REF_RGD_ID:150540332 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:83 cataract ISO RGD:732969 D RGD:9068941 20200609 RGD associated with Radiation Injuries PMID:18334943|REF_RGD_ID:10401127 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:SNP:cds :p.R194W(human) PMID:26250462|REF_RGD_ID:11081180 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:8719 in situ carcinoma ISO RGD:619823 D RGD:9068941 20200609 RGD associated with Lung Neoplasms PMID:21530494|REF_RGD_ID:10045659 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:732968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22452940 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9000965 Neoplasm Metastasis susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD associated with Neoplasms, Germ Cell and Embryonal;DNA:polymorphism: :p.R399Q PMID:16596238|REF_RGD_ID:2302576 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9001629 5 Alpha Fluorouracil Toxicity susceptibility ISO RGD:732968 D RGD:9068941 20211217 RGD DNA:missense mutation:CDS:p.R399Q (human) PMID:23604281|REF_RGD_ID:150530625 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia no_association ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:SNP: :p.R194W (rs1799782), p.R280H (25489) (human) PMID:19484764|REF_RGD_ID:11252204 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:SNP: :p.R399Q (rs25487) (human) PMID:19484764|REF_RGD_ID:11252204 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16406883|PMID:17196815|PMID:17486273 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9003216 Salivary Gland Neoplasms severity ISO RGD:732968 D RGD:9068941 20211224 RGD protein:decreased expression:saliva-secreting gland (human) PMID:33202356|REF_RGD_ID:150530645 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9003566 Mesothelioma ISO RGD:732968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16564556|PMID:20705543 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9003996 Birth Weight ISO RGD:732968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27592400 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9004009 Reperfusion Injury ISO RGD:619823 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17412650|REF_RGD_ID:2302580 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R194W, p.R280H, p.R399Q (human) PMID:29935355|REF_RGD_ID:15036797 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9005463 Occupational Diseases ISO RGD:732968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15612468 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:732968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20223788|PMID:21351625 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9006976 Erythema ISO RGD:732968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24594932 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9007329 Human Viral Hepatitis susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R194W, p.R280H (human) PMID:19194663|REF_RGD_ID:15014792 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9007364 Mouth Neoplasms susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:haplotye:: PMID:17290401|REF_RGD_ID:8552678 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:732969 D RGD:9068941 20200609 RGD DNA:haploinsufficiency: : (mouse) PMID:21737425|REF_RGD_ID:15036796 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:17381415|REF_RGD_ID:2302573 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9008939 Breast Neoplasms no_association ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.R194W, p.R399Q PMID:16963196|REF_RGD_ID:2302574 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R399Q PMID:19051060|REF_RGD_ID:2302566 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:IVS10+141G>A PMID:16596326|REF_RGD_ID:2302575 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:732968 D RGD:9068941 20220114 RGD DNA:missense mutation:exon 10: p.R399Q (human) PMID:27686263|REF_RGD_ID:150573803 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer severity ISO RGD:732968 D RGD:9068941 20220128 RGD DNA:missense mutation:cds: p.R399Q (human) PMID:22580644|REF_RGD_ID:150540339 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:732968 D RGD:9068941 20211217 RGD DNA:SNP:: p.R194W (human) PMID:26434847|REF_RGD_ID:11353313 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:732968 D RGD:9068941 20211224 RGD DNA:SNP:cds: p.R399Q (human) PMID:15800946|REF_RGD_ID:150537039 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:732968 D RGD:9068941 20211224 RGD DNA:SNP:exon 6: C>T p.R194W (human) PMID:27221877|REF_RGD_ID:150537038 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:732968 D RGD:9068941 20220107 RGD DNA:SNP:exon 10: p.R399Q G>A (human) PMID:22524842|REF_RGD_ID:150540340 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:732968 D RGD:9068941 20220114 RGD DNA:missense mutation:exon 10: p.R399Q (rs25487) (human) PMID:25227862|REF_RGD_ID:150573806 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer treatment ISO RGD:732968 D RGD:9068941 20211224 RGD DNA:SNP:exon 10: p.R399Q (human) PMID:17009149|REF_RGD_ID:150530641 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer treatment ISO RGD:732968 D RGD:9068941 20211231 RGD DNA:SNP:3'utr: (rs1799782) (human) PMID:33765714|REF_RGD_ID:150539454 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer treatment ISO RGD:732968 D RGD:9068941 20220114 RGD DNA:missense mutation:cds: p.R399Q G>A (human) PMID:22549274|REF_RGD_ID:150573706 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9261 nasopharynx carcinoma sexual_dimorphism ISO RGD:732968 D RGD:9068941 20220107 RGD DNA:missense mutation:cds: p.R194W (human) PMID:16796765|REF_RGD_ID:150573694 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20220114 RGD DNA:missense mutation:cds: p.R194W (human) PMID:17630853|REF_RGD_ID:150573708 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20220114 RGD DNA:missense mutation:exon 10: p.R399Q G>A, (rs25487) (human) PMID:24175791|REF_RGD_ID:150573698 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20220114 RGD associated with Tobacco Use Disorder; DNA:missense mutation:cds: p.R399Q (human) PMID:27356695|REF_RGD_ID:150573697 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9261 nasopharynx carcinoma treatment ISO RGD:732968 D RGD:9068941 20211217 RGD DNA:SNP:3'utr: (rs25489) (human) PMID:29108254|REF_RGD_ID:150530619 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9637 stomatitis ISO RGD:732968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24594932 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9655 oral mucosa leukoplakia susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotye:cds:p.R399Q(human) PMID:17290401|REF_RGD_ID:8552678 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9669 senile cataract susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G399A (human) PMID:21599457|REF_RGD_ID:10401083 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:732968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983886 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.R194W (human) PMID:19101034|REF_RGD_ID:11252192 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.R399Q (human) PMID:19101034|REF_RGD_ID:11252192 11791631 XRCC1 X-ray repair cross complementing 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation, haplotype: :p.R399Q (human) PMID:21983886|REF_RGD_ID:11252110 11791663 MFSD14B major facilitator superfamily domain containing 14B gene DOID:12642 hiatus hernia ISO RGD:1606770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hiatus hernia 11791663 MFSD14B major facilitator superfamily domain containing 14B gene DOID:630 genetic disease ISO RGD:1606770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791682 POLR2H RNA polymerase II, I and III subunit H gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1314889 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11791682 POLR2H RNA polymerase II, I and III subunit H gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1314889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11791682 POLR2H RNA polymerase II, I and III subunit H gene DOID:0111546 Currarino syndrome ISO RGD:1314889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11791703 MS4A6E membrane spanning 4-domains A6E gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1345095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11791703 MS4A6E membrane spanning 4-domains A6E gene DOID:1059 intellectual disability ISO RGD:1345095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11791703 MS4A6E membrane spanning 4-domains A6E gene DOID:630 genetic disease ISO RGD:1345095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791717 CCDC146 coiled-coil domain containing 146 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11791717 CCDC146 coiled-coil domain containing 146 gene DOID:630 genetic disease ISO RGD:1605975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791717 CCDC146 coiled-coil domain containing 146 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1605975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 11791740 GALNT16 polypeptide N-acetylgalactosaminyltransferase 16 gene DOID:630 genetic disease ISO RGD:1320965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791740 GALNT16 polypeptide N-acetylgalactosaminyltransferase 16 gene DOID:9008939 Breast Neoplasms ISO RGD:1320965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 11791759 KIAA1549L KIAA1549 like gene DOID:1059 intellectual disability ISO RGD:1604377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11791759 KIAA1549L KIAA1549 like gene DOID:630 genetic disease ISO RGD:1604377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791788 DLX1 distal-less homeobox 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1320012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21302352 11791788 DLX1 distal-less homeobox 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1320012 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11791788 DLX1 distal-less homeobox 1 gene DOID:12849 autistic disorder ISO RGD:1320012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18728693 11791788 DLX1 distal-less homeobox 1 gene DOID:630 genetic disease ISO RGD:1320012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791788 DLX1 distal-less homeobox 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9187081 11791808 MFSD4A major facilitator superfamily domain containing 4A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1605282 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11791808 MFSD4A major facilitator superfamily domain containing 4A gene DOID:12849 autistic disorder ISO RGD:1605282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11791808 MFSD4A major facilitator superfamily domain containing 4A gene DOID:1540 parathyroid carcinoma ISO RGD:1605282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11791808 MFSD4A major facilitator superfamily domain containing 4A gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1605282 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 11791808 MFSD4A major facilitator superfamily domain containing 4A gene DOID:630 genetic disease ISO RGD:1605282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791808 MFSD4A major facilitator superfamily domain containing 4A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1605282 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11791808 MFSD4A major facilitator superfamily domain containing 4A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11791825 HOXA13 homeobox A13 gene DOID:0060739 hand-foot-genital syndrome ISO RGD:1346914 D RGD:7240710 20180130 OMIM 11791825 HOXA13 homeobox A13 gene DOID:0060739 hand-foot-genital syndrome ISO RGD:1346914 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hand-foot-genital syndrome PMID:10839976|PMID:12073020|PMID:12414828|PMID:1442892|PMID:17935235|PMID:25741868|PMID:2774004|PMID:5450271|PMID:8673126|PMID:9020844 11791825 HOXA13 homeobox A13 gene DOID:0111544 Guttmacher syndrome ISO RGD:1346914 D RGD:7240710 20180130 OMIM 11791825 HOXA13 homeobox A13 gene DOID:0111544 Guttmacher syndrome ISO RGD:1346914 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Guttmacher syndrome PMID:25741868|PMID:28492532 11791825 HOXA13 homeobox A13 gene DOID:10892 hypospadias ISO RGD:1562483 D RGD:9068941 20200609 RGD mRNA:decreased expression:male genital tubercle PMID:27079746|REF_RGD_ID:12743602 11791825 HOXA13 homeobox A13 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11791825 HOXA13 homeobox A13 gene DOID:630 genetic disease ISO RGD:1346914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11791825 HOXA13 homeobox A13 gene DOID:684 hepatocellular carcinoma ISO RGD:1346914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11791825 HOXA13 homeobox A13 gene DOID:9001471 Anorectal Malformations ISO RGD:1562483 D RGD:9068941 20200609 RGD mRNA:decreased expression:hindgut PMID:17161201|REF_RGD_ID:1599527 11791825 HOXA13 homeobox A13 gene DOID:9001471 Anorectal Malformations ISO RGD:1562483 D RGD:9068941 20200609 RGD mRNA:decreased expression:rectum PMID:27079746|REF_RGD_ID:12743602 11791825 HOXA13 homeobox A13 gene DOID:9001611 Urogenital Abnormalities ISO RGD:1346914 D RGD:9068941 20200609 RGD hand-foot-genital syndrome, OMIM:140000 DNA,protein:point_mutation:CDS:Trp369Ter PMID:9020844|REF_RGD_ID:1599526 11791825 HOXA13 homeobox A13 gene DOID:9002739 Female Urogenital Diseases ISO RGD:1346914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 11791825 HOXA13 homeobox A13 gene DOID:9004795 Congenital Hand Deformities ISO RGD:1346914 D RGD:9068941 20200609 RGD hand-foot-genital syndrome, OMIM:140000 DNA,protein:point_mutation:CDS:Trp369Ter PMID:9020844|REF_RGD_ID:1599526 11791831 SF3A1 splicing factor 3a subunit 1 gene DOID:630 genetic disease ISO RGD:1322957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791851 RABAC1 Rab acceptor 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:736141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11791851 RABAC1 Rab acceptor 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:736141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11791851 RABAC1 Rab acceptor 1 gene DOID:2340 craniosynostosis ISO RGD:736141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:28492532 11791851 RABAC1 Rab acceptor 1 gene DOID:5419 schizophrenia ISO RGD:736141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11791851 RABAC1 Rab acceptor 1 gene DOID:630 genetic disease ISO RGD:736141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791851 RABAC1 Rab acceptor 1 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:736141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11791851 RABAC1 Rab acceptor 1 gene DOID:9269 maple syrup urine disease ISO RGD:736141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11791860 APCS amyloid P component, serum gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:68444 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 11791860 APCS amyloid P component, serum gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:68444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11791860 APCS amyloid P component, serum gene DOID:1540 parathyroid carcinoma ISO RGD:68444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11791860 APCS amyloid P component, serum gene DOID:3393 coronary artery disease ISO RGD:68444 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12714198 11791860 APCS amyloid P component, serum gene DOID:6000 congestive heart failure ISO RGD:68444 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16129801 11791860 APCS amyloid P component, serum gene DOID:630 genetic disease ISO RGD:68444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791860 APCS amyloid P component, serum gene DOID:684 hepatocellular carcinoma ISO RGD:68444 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 11791860 APCS amyloid P component, serum gene DOID:9007188 Liver Neoplasms ISO RGD:68444 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20195826 11791860 APCS amyloid P component, serum gene DOID:9120 amyloidosis ISO RGD:68444 D RGD:9068941 20200609 RGD PMID:12015594|REF_RGD_ID:1300286 11791860 APCS amyloid P component, serum gene DOID:9120 amyloidosis ISO RGD:736001 D RGD:9068941 20200609 RGD PMID:12015594|REF_RGD_ID:1300286 11791860 APCS amyloid P component, serum gene DOID:9253 gastrointestinal stromal tumor ISO RGD:68444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11791866 PABPC4L poly(A) binding protein cytoplasmic 4 like gene DOID:630 genetic disease ISO RGD:2290032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791876 ZBTB33 zinc finger and BTB domain containing 33 gene DOID:0050437 Danon disease ISO RGD:1351169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 11791876 ZBTB33 zinc finger and BTB domain containing 33 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11791876 ZBTB33 zinc finger and BTB domain containing 33 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1351169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 11791876 ZBTB33 zinc finger and BTB domain containing 33 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1351169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 11791876 ZBTB33 zinc finger and BTB domain containing 33 gene DOID:12849 autistic disorder ISO RGD:1351169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11791876 ZBTB33 zinc finger and BTB domain containing 33 gene DOID:630 genetic disease ISO RGD:1351169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791893 SLAMF8 SLAM family member 8 gene DOID:0050589 inflammatory bowel disease ISO RGD:1314782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28067908 11791893 SLAMF8 SLAM family member 8 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1314782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11791893 SLAMF8 SLAM family member 8 gene DOID:1540 parathyroid carcinoma ISO RGD:1314782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11791893 SLAMF8 SLAM family member 8 gene DOID:630 genetic disease ISO RGD:1314782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791893 SLAMF8 SLAM family member 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11791908 TMEFF2 transmembrane protein with EGF like and two follistatin like domains 2 gene DOID:10283 prostate cancer ISO RGD:1318843 D RGD:9068941 20200609 RGD PMID:15299075|REF_RGD_ID:2290490 11791908 TMEFF2 transmembrane protein with EGF like and two follistatin like domains 2 gene DOID:10283 prostate cancer ISO RGD:1318843 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:16458425|REF_RGD_ID:2290486 11791908 TMEFF2 transmembrane protein with EGF like and two follistatin like domains 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:1318843 D RGD:9068941 20200609 RGD PMID:16500022|REF_RGD_ID:2290485 11791908 TMEFF2 transmembrane protein with EGF like and two follistatin like domains 2 gene DOID:11054 urinary bladder cancer ISO RGD:1318843 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:16234815|REF_RGD_ID:2290489 11791908 TMEFF2 transmembrane protein with EGF like and two follistatin like domains 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1318843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11791908 TMEFF2 transmembrane protein with EGF like and two follistatin like domains 2 gene DOID:630 genetic disease ISO RGD:1318843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791908 TMEFF2 transmembrane protein with EGF like and two follistatin like domains 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23405127 11791908 TMEFF2 transmembrane protein with EGF like and two follistatin like domains 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11791908 TMEFF2 transmembrane protein with EGF like and two follistatin like domains 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1318843 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:16234815|REF_RGD_ID:2290489 11791927 CTBP1 C-terminal binding protein 1 gene DOID:0050460 Wolf-Hirschhorn syndrome ISO RGD:732729 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome PMID:25741868|PMID:28492532 11791927 CTBP1 C-terminal binding protein 1 gene DOID:1059 intellectual disability ISO RGD:732729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11791927 CTBP1 C-terminal binding protein 1 gene DOID:10907 microcephaly ISO RGD:732729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11791927 CTBP1 C-terminal binding protein 1 gene DOID:1856 cherubism ISO RGD:732729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11791927 CTBP1 C-terminal binding protein 1 gene DOID:630 genetic disease ISO RGD:732729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:27094857|PMID:28492532|PMID:28955726|PMID:29878067|PMID:31041561|PMID:9536098 11791927 CTBP1 C-terminal binding protein 1 gene DOID:9001308 Wittwer Syndrome ISO RGD:732729 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wittwer syndrome PMID:25741868|PMID:28492532 11791927 CTBP1 C-terminal binding protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17028196 11791927 CTBP1 C-terminal binding protein 1 gene DOID:9009147 HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME ISO RGD:732729 D RGD:7240710 20190315 OMIM 11791927 CTBP1 C-terminal binding protein 1 gene DOID:9009147 HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME ISO RGD:732729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome PMID:25741868|PMID:27094857|PMID:28492532|PMID:28955726|PMID:29878067|PMID:31041561 11791948 ACER3 alkaline ceramidase 3 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1346570 D RGD:9068941 20200716 RGD mRNA:increased expression:liver PMID:31949129|REF_RGD_ID:35673324 11791948 ACER3 alkaline ceramidase 3 gene DOID:0080547 non-alcoholic steatohepatitis disease_progression ISO RGD:1558553 D RGD:9068941 20200716 RGD PMID:31949129|REF_RGD_ID:35673324 11791948 ACER3 alkaline ceramidase 3 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:1558553 D RGD:9068941 20200716 RGD PMID:31949129|REF_RGD_ID:35673324 11791948 ACER3 alkaline ceramidase 3 gene DOID:1059 intellectual disability ISO RGD:1346570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11791948 ACER3 alkaline ceramidase 3 gene DOID:1909 melanoma ISO RGD:1346570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11791948 ACER3 alkaline ceramidase 3 gene DOID:219 colon cancer severity ISO RGD:1558553 D RGD:9068941 20200716 RGD associated with colitis PMID:26938296|REF_RGD_ID:35673322 11791948 ACER3 alkaline ceramidase 3 gene DOID:630 genetic disease ISO RGD:1346570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11791948 ACER3 alkaline ceramidase 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1346570 D RGD:9068941 20200716 RGD PMID:30097213|REF_RGD_ID:35673325 11791948 ACER3 alkaline ceramidase 3 gene DOID:9000099 Experimental Colitis ISO RGD:1558553 D RGD:9068941 20200716 RGD mRNA,protein:decreased expression, decreased activity:colon: PMID:26938296|REF_RGD_ID:35673322 11791948 ACER3 alkaline ceramidase 3 gene DOID:9000099 Experimental Colitis severity ISO RGD:1558553 D RGD:9068941 20200716 RGD PMID:26938296|REF_RGD_ID:35673322 11791948 ACER3 alkaline ceramidase 3 gene DOID:9009078 Progressive Leukodystrophy, Early Childhood-Onset ISO RGD:1346570 D RGD:7240710 20190315 OMIM 11791948 ACER3 alkaline ceramidase 3 gene DOID:9009078 Progressive Leukodystrophy, Early Childhood-Onset ISO RGD:1346570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET PMID:25741868|PMID:26792856|PMID:28492532|PMID:30575723 11791963 AADACL2 arylacetamide deacetylase like 2 gene DOID:630 genetic disease ISO RGD:1606396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791978 WFIKKN1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1342711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 11791978 WFIKKN1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1342711 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11791978 WFIKKN1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 gene DOID:1826 epilepsy ISO RGD:1342711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11791978 WFIKKN1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1342711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11791978 WFIKKN1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 gene DOID:630 genetic disease ISO RGD:1342711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791984 ALB albumin gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12239465 11791984 ALB albumin gene DOID:0050625 biliary tract benign neoplasm disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:20358256|REF_RGD_ID:2325676 11791984 ALB albumin gene DOID:0050782 Zollinger-Ellison syndrome ISO RGD:735404 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:908508|REF_RGD_ID:2325683 11791984 ALB albumin gene DOID:0080000 muscular disease ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:4126124 11791984 ALB albumin gene DOID:0080600 COVID-19 severity ISO RGD:735404 D RGD:9068941 20200619 RGD PMID:32198776|PMID:32427582|REF_RGD_ID:30296673|REF_RGD_ID:30309200 11791984 ALB albumin gene DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type ISO RGD:735404 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type PMID:2404284|PMID:8347685 11791984 ALB albumin gene DOID:10591 pre-eclampsia severity ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:21923989|REF_RGD_ID:11035264 11791984 ALB albumin gene DOID:1063 interstitial nephritis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10916085|PMID:12217854|PMID:18176075|PMID:23994741 11791984 ALB albumin gene DOID:10763 hypertension ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2526952 11791984 ALB albumin gene DOID:10952 nephritis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:161594|PMID:16326737|PMID:2945356|PMID:3656695|PMID:4065304|PMID:9380243 11791984 ALB albumin gene DOID:10976 membranous glomerulonephritis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11938814|PMID:12776520|PMID:1342223|PMID:15385633|PMID:17622271|PMID:9794552 11791984 ALB albumin gene DOID:112 esophageal varix ISO RGD:735404 D RGD:9068941 20200609 RGD associated with ascites PMID:8664482|REF_RGD_ID:1601159 11791984 ALB albumin gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome severity ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:14555823|REF_RGD_ID:11035280 11791984 ALB albumin gene DOID:11394 adult respiratory distress syndrome ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12394941 11791984 ALB albumin gene DOID:114 heart disease ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24309158 11791984 ALB albumin gene DOID:114 heart disease disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:15850960|REF_RGD_ID:11036094 11791984 ALB albumin gene DOID:11506 suppurative otitis media ISO RGD:8868064 D RGD:9068941 20200609 RGD PMID:1696441|REF_RGD_ID:11556250 11791984 ALB albumin gene DOID:1168 familial hyperlipidemia ISO RGD:2085 D RGD:9068941 20200609 RGD DNA:mutation PMID:6468510|REF_RGD_ID:1601160 11791984 ALB albumin gene DOID:11713 diabetic angiopathy ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19733855 11791984 ALB albumin gene DOID:11801 protein-energy malnutrition ISO RGD:2085 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:9235366|REF_RGD_ID:11036082 11791984 ALB albumin gene DOID:1184 nephrotic syndrome ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1556257|PMID:17178036 11791984 ALB albumin gene DOID:1184 nephrotic syndrome ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:22203175|REF_RGD_ID:11036090 11791984 ALB albumin gene DOID:1205 allergic disease ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8431628 11791984 ALB albumin gene DOID:12157 aseptic meningitis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:5108595|PMID:5109917|PMID:5536438 11791984 ALB albumin gene DOID:12236 primary biliary cholangitis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 11791984 ALB albumin gene DOID:12351 alcoholic hepatitis severity ISO RGD:735404 D RGD:9068941 20200609 RGD protein:increased expression, modification:urine PMID:29369844|REF_RGD_ID:14694842 11791984 ALB albumin gene DOID:1240 leukemia disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:24182818|REF_RGD_ID:11035296 11791984 ALB albumin gene DOID:12554 hemolytic-uremic syndrome ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6734075 11791984 ALB albumin gene DOID:1287 cardiovascular system disease ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8431628 11791984 ALB albumin gene DOID:13141 uveitis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1556257 11791984 ALB albumin gene DOID:13576 twin-to-twin transfusion syndrome ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:23208016|REF_RGD_ID:11035270 11791984 ALB albumin gene DOID:13580 cholestasis ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:6431134|REF_RGD_ID:11035297 11791984 ALB albumin gene DOID:13603 obstructive jaundice ISO RGD:2085 D RGD:9068941 20200609 RGD PMID:9161836|REF_RGD_ID:11036102 11791984 ALB albumin gene DOID:13619 extrahepatic cholestasis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 11791984 ALB albumin gene DOID:14089 root caries susceptibility ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:17959907|REF_RGD_ID:11035291 11791984 ALB albumin gene DOID:14227 azoospermia ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27289041 11791984 ALB albumin gene DOID:14525 Reye syndrome treatment ISO RGD:2085 D RGD:9068941 20200609 RGD PMID:25162205|REF_RGD_ID:14694843 11791984 ALB albumin gene DOID:1496 echinococcosis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24270252 11791984 ALB albumin gene DOID:1555 urticaria ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8458210 11791984 ALB albumin gene DOID:1558 angioedema ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8458210 11791984 ALB albumin gene DOID:1579 respiratory system disease ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8431628 11791984 ALB albumin gene DOID:1588 thrombocytopenia ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6734075 11791984 ALB albumin gene DOID:1596 depressive disorder ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9029664 11791984 ALB albumin gene DOID:1793 pancreatic cancer disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:18154768|PMID:20508721|REF_RGD_ID:2325675|REF_RGD_ID:2325678 11791984 ALB albumin gene DOID:1826 epilepsy ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15356194|PMID:17121744 11791984 ALB albumin gene DOID:2237 hepatitis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21851314 11791984 ALB albumin gene DOID:2316 brain ischemia ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16809570 11791984 ALB albumin gene DOID:2527 nephrosis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3301049 11791984 ALB albumin gene DOID:26 pancreas disease ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17169978 11791984 ALB albumin gene DOID:2855 hyperthyroxinemia susceptibility ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:8048949|REF_RGD_ID:1599027 11791984 ALB albumin gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1556257 11791984 ALB albumin gene DOID:2921 glomerulonephritis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17161813|PMID:17464766|PMID:18462998|PMID:19524415|PMID:3160244|PMID:6343549|PMID:6769622|PMID:8501856 11791984 ALB albumin gene DOID:2983 anuria ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6734075 11791984 ALB albumin gene DOID:3021 acute kidney failure ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:2048579|PMID:21259293|PMID:24361871|PMID:28885000 11791984 ALB albumin gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:22227456|REF_RGD_ID:11036100 11791984 ALB albumin gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:19011933|REF_RGD_ID:2325677 11791984 ALB albumin gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:23778417|REF_RGD_ID:11036091 11791984 ALB albumin gene DOID:3910 lung adenocarcinoma ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 11791984 ALB albumin gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:10776430|PMID:17545000|PMID:20431764|REF_RGD_ID:2325679|REF_RGD_ID:2325680|REF_RGD_ID:2325682 11791984 ALB albumin gene DOID:4989 pancreatitis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17169977 11791984 ALB albumin gene DOID:5082 liver cirrhosis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17977396|PMID:21851314 11791984 ALB albumin gene DOID:5082 liver cirrhosis disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD associated with Head and Neck Neoplasms; PMID:23285146|REF_RGD_ID:11035282 11791984 ALB albumin gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16903978 11791984 ALB albumin gene DOID:552 pneumonia disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:23286966|REF_RGD_ID:11035283 11791984 ALB albumin gene DOID:557 kidney disease ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316336|PMID:17303580|PMID:20438795|PMID:21338618|PMID:2386429|PMID:24863737|PMID:350256|PMID:7297036 11791984 ALB albumin gene DOID:576 proteinuria ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1011057|PMID:10916085|PMID:12217854|PMID:14514721|PMID:16326737|PMID:18176075|PMID:7288527|PMID:7297036|PMID:839733 11791984 ALB albumin gene DOID:576 proteinuria ISO RGD:735404 D RGD:9068941 20200609 RGD associated with hypertension PMID:8677191|REF_RGD_ID:1601158 11791984 ALB albumin gene DOID:6000 congestive heart failure ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11771600 11791984 ALB albumin gene DOID:6000 congestive heart failure disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:22158777|REF_RGD_ID:11036096 11791984 ALB albumin gene DOID:620 blood protein disease ISO RGD:735404 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.D293G,K198I(human) PMID:20603593|REF_RGD_ID:11035265 11791984 ALB albumin gene DOID:6271 gastric cardia adenocarcinoma disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:15585392|REF_RGD_ID:11035298 11791984 ALB albumin gene DOID:630 genetic disease ISO RGD:735404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11791984 ALB albumin gene DOID:684 hepatocellular carcinoma ISO RGD:735404 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 11791984 ALB albumin gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:735404 D RGD:9068941 20200609 RGD associated with hepatitis C;protein:decreased expression:serum PMID:29040987|REF_RGD_ID:14694841 11791984 ALB albumin gene DOID:783 end stage renal disease ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11938814 11791984 ALB albumin gene DOID:783 end stage renal disease disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:11849406|REF_RGD_ID:11036089 11791984 ALB albumin gene DOID:8577 ulcerative colitis ISO RGD:735404 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 11791984 ALB albumin gene DOID:8893 psoriasis ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:22607558|REF_RGD_ID:6483512 11791984 ALB albumin gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:6683982|REF_RGD_ID:11036083 11791984 ALB albumin gene DOID:9000046 Poisoning ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10511253 11791984 ALB albumin gene DOID:9000058 Keloid ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 11791984 ALB albumin gene DOID:9000217 Stomach Neoplasms ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 11791984 ALB albumin gene DOID:9000310 Lung Injury ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30953400 11791984 ALB albumin gene DOID:9000568 Analbuminemia ISO RGD:735404 D RGD:7240710 20180130 OMIM 11791984 ALB albumin gene DOID:9000568 Analbuminemia ISO RGD:735404 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Analbuminemia | ClinVar Annotator: match by term: Analbuminemia Baghdad PMID:11781148|PMID:12028999|PMID:15300429|PMID:15996651|PMID:16183048|PMID:17952464|PMID:18459107|PMID:18602380|PMID:18791744|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29981851|PMID:3353369|PMID:7937781|PMID:8134387|PMID:9266687 11791984 ALB albumin gene DOID:9000641 Pain ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:4126124 11791984 ALB albumin gene DOID:9000784 Fibrosis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24309158 11791984 ALB albumin gene DOID:9000790 Postoperative Complications spontaneous ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:23225108|REF_RGD_ID:11035295 11791984 ALB albumin gene DOID:9000998 Brain Injuries ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17188501|PMID:7909931 11791984 ALB albumin gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:735404 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11791984 ALB albumin gene DOID:9001361 Pancreatic Fistula spontaneous ISO RGD:735404 D RGD:9068941 20200609 RGD associated with Postoperative Complications; PMID:23225108|REF_RGD_ID:11035295 11791984 ALB albumin gene DOID:9001542 Albuminuria ISO RGD:2085 D RGD:9068941 20200609 RGD associated with hypertension PMID:15102963|REF_RGD_ID:1601157 11791984 ALB albumin gene DOID:9001542 Albuminuria ISO RGD:735404 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:19414946|REF_RGD_ID:2306884 11791984 ALB albumin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16642209|PMID:17963606|PMID:21163135 11791984 ALB albumin gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2085 D RGD:9068941 20220331 RGD PMID:30346985|REF_RGD_ID:151665755 11791984 ALB albumin gene DOID:9001686 Acute Coronary Syndrome treatment ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:20716836|REF_RGD_ID:11036086 11791984 ALB albumin gene DOID:9001986 Familial Dysalbuminemic Hyperthyroxinemia ISO RGD:735404 D RGD:7240710 20180130 OMIM 11791984 ALB albumin gene DOID:9001986 Familial Dysalbuminemic Hyperthyroxinemia ISO RGD:735404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: EUTHYROID HYPERTHYROXINEMIA 1 | ClinVar Annotator: match by term: Hyperthyroxinemia, dysalbuminemic | ClinVar Annotator: match by term: Hyperthyroxinemia, familial dysalbuminemic PMID:12099390|PMID:12743361|PMID:15251607|PMID:18029235|PMID:1859851|PMID:19336879|PMID:1946412|PMID:2104980|PMID:22230555|PMID:2226433|PMID:2247440|PMID:2304452|PMID:2339130|PMID:25741868|PMID:26169058|PMID:28492532|PMID:2901102|PMID:29133890|PMID:29676214|PMID:3338164|PMID:3479777|PMID:3780972|PMID:5926635|PMID:683332|PMID:8022807|PMID:8048949|PMID:8064810|PMID:9329347|PMID:9589637 11791984 ALB albumin gene DOID:9001986 Familial Dysalbuminemic Hyperthyroxinemia severity ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:19844712|REF_RGD_ID:11035292 11791984 ALB albumin gene DOID:9002055 Chronic Allograft Nephropathy disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:24370342|REF_RGD_ID:11035281 11791984 ALB albumin gene DOID:9002165 Diabetic Nephropathies ISO RGD:2085 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19397971|REF_RGD_ID:2306885 11791984 ALB albumin gene DOID:9002165 Diabetic Nephropathies ISO RGD:2085 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:urine PMID:21441310|REF_RGD_ID:5135032 11791984 ALB albumin gene DOID:9002165 Diabetic Nephropathies ISO RGD:2085 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X;protein:increased expression:urine PMID:19424163|REF_RGD_ID:2306882 11791984 ALB albumin gene DOID:9002165 Diabetic Nephropathies ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16380483 11791984 ALB albumin gene DOID:9002165 Diabetic Nephropathies ISO RGD:735404 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:urine PMID:19246226|REF_RGD_ID:2306886 11791984 ALB albumin gene DOID:9002457 Experimental Arthritis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20472598 11791984 ALB albumin gene DOID:9002513 Hypoproteinemia ISO RGD:2085 D RGD:9068941 20200609 RGD PMID:1690892|REF_RGD_ID:734959 11791984 ALB albumin gene DOID:9002513 Hypoproteinemia susceptibility ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:7937781|REF_RGD_ID:1599028 11791984 ALB albumin gene DOID:9002605 Delayed Hypersensitivity ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19376187 11791984 ALB albumin gene DOID:9003284 HIV Seropositivity ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17209195 11791984 ALB albumin gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19389874 11791984 ALB albumin gene DOID:9004009 Reperfusion Injury ISO RGD:2085 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:20193666|REF_RGD_ID:2325686 11791984 ALB albumin gene DOID:9004250 Hepatic Insufficiency ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 11791984 ALB albumin gene DOID:9004484 Sepsis disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:22801198|REF_RGD_ID:11036079 11791984 ALB albumin gene DOID:9004590 Acute Liver Failure ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16750869|PMID:18609519 11791984 ALB albumin gene DOID:9004610 Acute Lung Injury ISO RGD:2085 D RGD:9068941 20200609 RGD PMID:22592748|REF_RGD_ID:6483494 11791984 ALB albumin gene DOID:9005369 Hepatomegaly ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 11791984 ALB albumin gene DOID:9005463 Occupational Diseases ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23791970 11791984 ALB albumin gene DOID:9005474 Experimental Sarcoma ISO RGD:10136 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver,serum: PMID:1900492|REF_RGD_ID:11035284 11791984 ALB albumin gene DOID:9005818 Serum Sickness ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:350256|PMID:9380243 11791984 ALB albumin gene DOID:9006024 Hypotension ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11229087|PMID:4463119 11791984 ALB albumin gene DOID:9006205 Animal Disease Models ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16642209|PMID:17963606 11791984 ALB albumin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24361871|PMID:28885000 11791984 ALB albumin gene DOID:9007096 Stroke ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14514741|PMID:16174931|PMID:16809570|PMID:17270091 11791984 ALB albumin gene DOID:9007096 Stroke disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:8291969|REF_RGD_ID:11036080 11791984 ALB albumin gene DOID:9007271 Hypoalbuminemia ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10337936 11791984 ALB albumin gene DOID:9007271 Hypoalbuminemia treatment ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:9034259|REF_RGD_ID:11035279 11791984 ALB albumin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18779383|PMID:22310181 11791984 ALB albumin gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:10136 D RGD:9068941 20200609 RGD PMID:27567545|REF_RGD_ID:14694844 11791984 ALB albumin gene DOID:9007614 Paroxysmal Atrial Fibrillation ISO RGD:735404 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:16869456|REF_RGD_ID:11036095 11791984 ALB albumin gene DOID:9007730 Burns disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:23917657|REF_RGD_ID:11036092 11791984 ALB albumin gene DOID:9007787 Carcinoid Tumor ISO RGD:735404 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:975003|REF_RGD_ID:11036087 11791984 ALB albumin gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9572063 11791984 ALB albumin gene DOID:9008261 Chemically-Induced Disorders ISO RGD:735404 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 11791984 ALB albumin gene DOID:9008386 Hydrops Fetalis disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:17195148|REF_RGD_ID:11036098 11791984 ALB albumin gene DOID:9008443 Colorectal Neoplasms disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:16965244|REF_RGD_ID:11035272 11791984 ALB albumin gene DOID:936 brain disease ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15923801 11791984 ALB albumin gene DOID:9538 multiple myeloma disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:17096887|REF_RGD_ID:11035276 11791984 ALB albumin gene DOID:9675 pulmonary emphysema ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:24365562|REF_RGD_ID:11035274 11792025 TTLL8 tubulin tyrosine ligase like 8 gene DOID:0060041 autism spectrum disorder ISO RGD:2290198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 11792025 TTLL8 tubulin tyrosine ligase like 8 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:2290198 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 11792025 TTLL8 tubulin tyrosine ligase like 8 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:2290198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11792025 TTLL8 tubulin tyrosine ligase like 8 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:2290198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 11792025 TTLL8 tubulin tyrosine ligase like 8 gene DOID:10581 metachromatic leukodystrophy ISO RGD:2290198 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 11792025 TTLL8 tubulin tyrosine ligase like 8 gene DOID:1059 intellectual disability ISO RGD:2290198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:0050864 non-arteritic anterior ischemic optic neuropathy ISO RGD:1321026 D RGD:7240710 20230517 OMIM 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:0050941 spastic ataxia 2 ISO RGD:1321026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:0060903 thrombosis ISO RGD:1321026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17334511 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:0081250 CIC-rearranged sarcoma ISO RGD:1321026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CIC-DUX Sarcoma PMID:25741868|PMID:28492532 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:1321026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:0111056 platelet-type bleeding disorder 3 ISO RGD:1321026 D RGD:7240710 20230517 OMIM 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:0111056 platelet-type bleeding disorder 3 ISO RGD:1321026 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pseudo von Willebrand disease PMID:2052556|PMID:25741868|PMID:31064749|PMID:34355501|PMID:8384898|PMID:8486780 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:0111059 Bernard-Soulier syndrome type A2 ISO RGD:1321026 D RGD:7240710 20230517 OMIM 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:0111059 Bernard-Soulier syndrome type A2 ISO RGD:1321026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A2, autosomal dominant PMID:10089893|PMID:10235425|PMID:11054083|PMID:11222377|PMID:1694864|PMID:1730088|PMID:18065693|PMID:19067792|PMID:21933849|PMID:25370924|PMID:25741868|PMID:28492532|PMID:28983057|PMID:29082515|PMID:30349881|PMID:30908598|PMID:31064749|PMID:32757236|PMID:34355501|PMID:7690774|PMID:7855797|PMID:9326229|PMID:9326230 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:10763 hypertension ISO RGD:1321026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:11713 diabetic angiopathy ISO RGD:1321026 D RGD:9068941 20200609 RGD PMID:21411989|REF_RGD_ID:7242686 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:1184 nephrotic syndrome ISO RGD:1321026 D RGD:9068941 20200609 RGD protein: reduced expression: : PMID:12185480|REF_RGD_ID:7242688 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:1588 thrombocytopenia ISO RGD:1321026 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:29082515|PMID:31064749|PMID:34355501|PMID:8384898 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:1725 peritoneum cancer sexual_dimorphism ISO RGD:1321026 D RGD:9068941 20210625 RGD associated with stomach cancer;protein:altered expression:peritoneum (human) PMID:32724431|REF_RGD_ID:42722625 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:2213 hemorrhagic disease ISO RGD:1321026 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1321026 D RGD:7240710 20230517 OMIM 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1321026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bernard Soulier syndrome PMID:10089893|PMID:10996832|PMID:11054083|PMID:18065693|PMID:25370924|PMID:25741868|PMID:28492532|PMID:28748566|PMID:28983057|PMID:29232918|PMID:30349881|PMID:32757236|PMID:34355501|PMID:7579348|PMID:7855797|PMID:8950770|PMID:9233564|PMID:9326229|PMID:9326230|PMID:9639514 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:2217 Bernard-Soulier syndrome treatment ISO RGD:1321026 D RGD:9068941 20200609 RGD PMID:22044935|REF_RGD_ID:10450833 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:2316 brain ischemia exacerbates ISO RGD:1321027 D RGD:9068941 20210312 RGD associated with Pneumococcal Infections PMID:24644058|REF_RGD_ID:42722626 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:5082 liver cirrhosis treatment ISO RGD:1321026 D RGD:9068941 20210312 RGD PMID:31851564|REF_RGD_ID:42722628 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:5844 myocardial infarction ISO RGD:1321026 D RGD:9068941 20200609 RGD PMID:15269835|REF_RGD_ID:1580432 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:630 genetic disease ISO RGD:1321026 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:784 chronic kidney disease exacerbates ISO RGD:1321026 D RGD:9068941 20210312 RGD PMID:11314805|REF_RGD_ID:42722629 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:8283 peritonitis exacerbates ISO RGD:1321027 D RGD:9068941 20210312 RGD PMID:20716766|REF_RGD_ID:42722627 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:874 bacterial pneumonia exacerbates ISO RGD:1321027 D RGD:9068941 20210312 RGD associated with Escherichia Coli Infections PMID:27845343|REF_RGD_ID:42722624 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1321027 D RGD:9068941 20200609 RGD PMID:16861348|REF_RGD_ID:10450841 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:9000528 Coronary Disease ISO RGD:1321026 D RGD:9068941 20200609 RGD PMID:14592833|REF_RGD_ID:1580433 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:9000965 Neoplasm Metastasis ISO RGD:1321027 D RGD:9068941 20200609 RGD associated with Melanoma, Experimental PMID:19727118|REF_RGD_ID:10450866 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:9001249 Bernard-Soulier Syndrome, Type A ISO RGD:1321026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A1 PMID:10235425|PMID:11222377|PMID:1694864|PMID:1901273|PMID:19067792|PMID:21933849|PMID:2308962|PMID:25741868|PMID:28492532|PMID:28983057|PMID:34355501|PMID:7690774|PMID:7855797|PMID:9233564|PMID:9639514 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:9002406 Bernard-Soulier Syndrome, Autosomal Dominant ISO RGD:1321026 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.A156V (515C>T) (human) PMID:11222377|REF_RGD_ID:10450832 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:9002406 Bernard-Soulier Syndrome, Autosomal Dominant ISO RGD:1321026 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.N41H (169A>C) (human) PMID:18815197|REF_RGD_ID:10450842 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:9002522 Embolism susceptibility ISO RGD:1321026 D RGD:9068941 20210312 RGD associated with infective endocarditis;DNA:repeat:CDS:(human) PMID:23611001|REF_RGD_ID:42722623 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:9003168 Diarrhea prodrome + Hemolytic-Uremic Syndrome ISO RGD:1321026 D RGD:9068941 20210312 RGD associated with Escherichia Coli Infections;DNA:SNP:exon: (rs121908064) (human) PMID:29216383|REF_RGD_ID:42722620 11792041 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:9004484 Sepsis exacerbates ISO RGD:1321027 D RGD:9068941 20210312 RGD associated with thrombocytopenia PMID:24150174|REF_RGD_ID:42722621 11792045 ACTL6B actin like 6B gene DOID:0060041 autism spectrum disorder ISO RGD:1351133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:32312822 11792045 ACTL6B actin like 6B gene DOID:0112026 non-syndromic X-linked intellectual disability 99 ISO RGD:1351133 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 PMID:25741868 11792045 ACTL6B actin like 6B gene DOID:0112212 developmental and epileptic encephalopathy 76 ISO RGD:1351133 D RGD:7240710 20190731 OMIM 11792045 ACTL6B actin like 6B gene DOID:0112212 developmental and epileptic encephalopathy 76 ISO RGD:1351133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 76 PMID:25741868|PMID:26539891|PMID:28492532|PMID:30237576|PMID:30656450|PMID:31031012|PMID:34008892 11792045 ACTL6B actin like 6B gene DOID:1059 intellectual disability ISO RGD:1351133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:31031012|PMID:34008892 11792045 ACTL6B actin like 6B gene DOID:12849 autistic disorder ISO RGD:1351133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868|PMID:28492532|PMID:31031012|PMID:34008892 11792045 ACTL6B actin like 6B gene DOID:1826 epilepsy ISO RGD:1351133 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11792045 ACTL6B actin like 6B gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1351133 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:28973294 11792045 ACTL6B actin like 6B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11792045 ACTL6B actin like 6B gene DOID:630 genetic disease ISO RGD:1351133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31031012|PMID:34008892 11792045 ACTL6B actin like 6B gene DOID:9006467 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS ISO RGD:1351133 D RGD:7240710 20190807 OMIM 11792045 ACTL6B actin like 6B gene DOID:9006467 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS ISO RGD:1351133 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with severe speech and ambulation defects PMID:25741868|PMID:28492532|PMID:31031012|PMID:34008892|PMID:35887114 11792045 ACTL6B actin like 6B gene DOID:9007921 Spina Bifida Cystica ISO RGD:1307763 D RGD:9068941 20200609 RGD PMID:23677776|REF_RGD_ID:9587760 11792045 ACTL6B actin like 6B gene DOID:9008086 Developmental Disabilities ISO RGD:1351133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:26539891 11792066 ZKSCAN1 zinc finger with KRAB and SCAN domains 1 gene DOID:10283 prostate cancer ISO RGD:1347183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11792066 ZKSCAN1 zinc finger with KRAB and SCAN domains 1 gene DOID:1059 intellectual disability ISO RGD:1347183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11792066 ZKSCAN1 zinc finger with KRAB and SCAN domains 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11792066 ZKSCAN1 zinc finger with KRAB and SCAN domains 1 gene DOID:630 genetic disease ISO RGD:1347183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792077 TFG trafficking from ER to golgi regulator gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1320255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:17576681|PMID:22883144|PMID:23479643|PMID:23553329|PMID:23806086|PMID:24088041|PMID:24613659|PMID:25098539|PMID:25725944|PMID:25741868|PMID:26257172|PMID:27492651|PMID:28166811|PMID:28196470|PMID:28492532|PMID:29971521|PMID:30157421|PMID:9536098 11792077 TFG trafficking from ER to golgi regulator gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1320255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:17576681|PMID:22883144|PMID:23479643|PMID:23553329|PMID:23806086|PMID:24088041|PMID:24613659|PMID:25098539|PMID:25725944|PMID:25741868|PMID:26257172|PMID:27492651|PMID:28166811|PMID:28196470|PMID:28492532|PMID:29971521|PMID:30157421|PMID:30221345|PMID:9536098 11792077 TFG trafficking from ER to golgi regulator gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1320255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:17576681|PMID:22883144|PMID:23479643|PMID:23553329|PMID:23806086|PMID:24088041|PMID:24613659|PMID:25098539|PMID:25725944|PMID:25741868|PMID:26257172|PMID:27492651|PMID:27601211|PMID:28124177|PMID:28166811|PMID:28196470|PMID:28492532|PMID:29971521|PMID:30157421|PMID:30221345|PMID:30467354|PMID:9536098 11792077 TFG trafficking from ER to golgi regulator gene DOID:0110809 hereditary spastic paraplegia 57 ISO RGD:1320255 D RGD:7240710 20180130 OMIM 11792077 TFG trafficking from ER to golgi regulator gene DOID:0110809 hereditary spastic paraplegia 57 ISO RGD:1320255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 57 PMID:22883144|PMID:23479643|PMID:23553329|PMID:23806086|PMID:24088041|PMID:24613659|PMID:25725944|PMID:25741868|PMID:26257172|PMID:27492651|PMID:28196470|PMID:28492532|PMID:29971521|PMID:30157421|PMID:30221345 11792077 TFG trafficking from ER to golgi regulator gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1320255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:28492532 11792077 TFG trafficking from ER to golgi regulator gene DOID:630 genetic disease ISO RGD:1320255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23479643|PMID:25741868|PMID:27492651|PMID:28492532|PMID:29971521|PMID:30157421|PMID:30221345|PMID:9536098 11792077 TFG trafficking from ER to golgi regulator gene DOID:9001905 Hereditary Motor and Sensory Neuropathy, Okinawa Type ISO RGD:1320255 D RGD:7240710 20180130 OMIM 11792077 TFG trafficking from ER to golgi regulator gene DOID:9001905 Hereditary Motor and Sensory Neuropathy, Okinawa Type ISO RGD:1320255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:17576681|PMID:22883144|PMID:23479643|PMID:23553329|PMID:23806086|PMID:24088041|PMID:24613659|PMID:25098539|PMID:25725944|PMID:25741868|PMID:26257172|PMID:27492651|PMID:27601211|PMID:28124177|PMID:28166811|PMID:28196470|PMID:28492532|PMID:29971521|PMID:30157421|PMID:30221345|PMID:30467354|PMID:9536098 11792115 GAS7 growth arrest specific 7 gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:1349821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 11792115 GAS7 growth arrest specific 7 gene DOID:630 genetic disease ISO RGD:1349821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792115 GAS7 growth arrest specific 7 gene DOID:9970 obesity ISO RGD:1349821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270708 11792148 TMEM139 transmembrane protein 139 gene DOID:630 genetic disease ISO RGD:1602298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792148 TMEM139 transmembrane protein 139 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1602298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 11792155 PLP2 proteolipid protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349250 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11792155 PLP2 proteolipid protein 2 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1349250 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 11792155 PLP2 proteolipid protein 2 gene DOID:0080600 COVID-19 ISO RGD:1349250 D RGD:9068941 20230427 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11792155 PLP2 proteolipid protein 2 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1349250 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11792155 PLP2 proteolipid protein 2 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1349250 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11792155 PLP2 proteolipid protein 2 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1349250 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11792155 PLP2 proteolipid protein 2 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1349250 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 11792155 PLP2 proteolipid protein 2 gene DOID:12849 autistic disorder ISO RGD:1349250 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11792155 PLP2 proteolipid protein 2 gene DOID:630 genetic disease ISO RGD:1349250 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792164 DRD1 dopamine receptor D1 gene DOID:0060001 withdrawal disorder ISO RGD:2518 D RGD:9068941 20200609 RGD protein:increased expression:nucleus accumbens (rat) PMID:20435100|REF_RGD_ID:7248622 11792164 DRD1 dopamine receptor D1 gene DOID:0081292 traumatic brain injury treatment ISO RGD:2518 D RGD:9068941 20200609 RGD PMID:24047867|REF_RGD_ID:13506948 11792164 DRD1 dopamine receptor D1 gene DOID:10652 Alzheimer's disease ISO RGD:70828 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex, neuron PMID:17182012|REF_RGD_ID:5686412 11792164 DRD1 dopamine receptor D1 gene DOID:1074 kidney failure ISO RGD:70828 D RGD:9068941 20200609 RGD DNA:polymorphism:5' utr:g.-94G>A (human) PMID:19675531|REF_RGD_ID:7248447 11792164 DRD1 dopamine receptor D1 gene DOID:10763 hypertension ISO RGD:10485 D RGD:9068941 20200609 RGD PMID:8636408|REF_RGD_ID:1300303 11792164 DRD1 dopamine receptor D1 gene DOID:10763 hypertension ISO RGD:70828 D RGD:9068941 20200609 RGD PMID:10948075|REF_RGD_ID:1580869 11792164 DRD1 dopamine receptor D1 gene DOID:12849 autistic disorder ISO RGD:70828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18205172 11792164 DRD1 dopamine receptor D1 gene DOID:12858 Huntington's disease ISO RGD:10485 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (mouse) PMID:16905556|REF_RGD_ID:7248682 11792164 DRD1 dopamine receptor D1 gene DOID:12858 Huntington's disease ISO RGD:2518 D RGD:9068941 20200609 RGD PMID:18815258|REF_RGD_ID:2302117 11792164 DRD1 dopamine receptor D1 gene DOID:12858 Huntington's disease ISO RGD:68472 D RGD:9068941 20200609 RGD PMID:12111832|REF_RGD_ID:5686414 11792164 DRD1 dopamine receptor D1 gene DOID:14330 Parkinson's disease ISO RGD:2518 D RGD:9068941 20200609 RGD protein:decreased expression:striatum (rat) PMID:16365282|REF_RGD_ID:7248455 11792164 DRD1 dopamine receptor D1 gene DOID:14330 Parkinson's disease ISO RGD:70828 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8558425 11792164 DRD1 dopamine receptor D1 gene DOID:14330 Parkinson's disease treatment ISO RGD:2518 D RGD:9068941 20200609 RGD PMID:23041629|REF_RGD_ID:7248595 11792164 DRD1 dopamine receptor D1 gene DOID:1596 depressive disorder ISO RGD:2518 D RGD:9068941 20200609 RGD mRNA:increased expression:caudate putamen (rat) PMID:17558292|REF_RGD_ID:2311588 11792164 DRD1 dopamine receptor D1 gene DOID:3227 tracheal stenosis ISO RGD:2518 D RGD:9068941 20200609 RGD mRNA:decreased expression:medial dorsal nucleus of thalamus (rat) PMID:21527662|REF_RGD_ID:7248613 11792164 DRD1 dopamine receptor D1 gene DOID:3312 bipolar disorder ISO RGD:70828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19153942 11792164 DRD1 dopamine receptor D1 gene DOID:4195 hyperglycemia ISO RGD:2518 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:decreased expression:renal cortex (rat) PMID:20339101|REF_RGD_ID:7248446 11792164 DRD1 dopamine receptor D1 gene DOID:480 movement disease ISO RGD:70828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6858777 11792164 DRD1 dopamine receptor D1 gene DOID:5199 ureteral obstruction ISO RGD:10485 D RGD:9068941 20200609 RGD protein:decreased expression:kidney (rat) PMID:14612384|REF_RGD_ID:7248457 11792164 DRD1 dopamine receptor D1 gene DOID:5199 ureteral obstruction ISO RGD:2518 D RGD:9068941 20200609 RGD protein:decreased expression:kidney (rat) PMID:14612384|REF_RGD_ID:7248457 11792164 DRD1 dopamine receptor D1 gene DOID:5419 schizophrenia ISO RGD:70828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 11792164 DRD1 dopamine receptor D1 gene DOID:630 genetic disease ISO RGD:70828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792164 DRD1 dopamine receptor D1 gene DOID:670 amphetamine abuse ISO RGD:70828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18363855|PMID:19444617 11792164 DRD1 dopamine receptor D1 gene DOID:783 end stage renal disease treatment ISO RGD:2518 D RGD:9068941 20200609 RGD PMID:18402547|REF_RGD_ID:7248448 11792164 DRD1 dopamine receptor D1 gene DOID:9000972 Fever ISO RGD:2518 D RGD:9068941 20200609 RGD mRNA:increased expression:brain meninges, brain vasculature (rat) PMID:19582783|REF_RGD_ID:2314489 11792164 DRD1 dopamine receptor D1 gene DOID:9001542 Albuminuria ISO RGD:70828 D RGD:9068941 20200609 RGD DNA:polymorphism:5' utr:g.-94G>A rs5326 (human) PMID:17353515|REF_RGD_ID:7248452 11792164 DRD1 dopamine receptor D1 gene DOID:9002362 Hyperkinesis ISO RGD:70828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24418703 11792164 DRD1 dopamine receptor D1 gene DOID:9002457 Experimental Arthritis ISO RGD:2518 D RGD:9068941 20200609 RGD mRNA:increased expression:corpus striatum (rat) PMID:23762129|REF_RGD_ID:7248592 11792164 DRD1 dopamine receptor D1 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2518 D RGD:9068941 20200609 RGD PMID:23762129|REF_RGD_ID:7248592 11792164 DRD1 dopamine receptor D1 gene DOID:9003805 Catalepsy ISO RGD:70828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1365866|PMID:3283778|PMID:7845605 11792164 DRD1 dopamine receptor D1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:70828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15295029|PMID:16014726|PMID:16541082|PMID:20456009 11792164 DRD1 dopamine receptor D1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2518 D RGD:9068941 20200609 RGD protein:decreased activity:striatum (rat) PMID:1386820|REF_RGD_ID:2311600 11792164 DRD1 dopamine receptor D1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2518 D RGD:9068941 20200609 RGD PMID:20513244|REF_RGD_ID:7248621 11792164 DRD1 dopamine receptor D1 gene DOID:9005968 Neuralgia ISO RGD:2518 D RGD:9068941 20200609 RGD PMID:22171983|REF_RGD_ID:6907447 11792164 DRD1 dopamine receptor D1 gene DOID:9006024 Hypotension ISO RGD:70828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12946566|PMID:1724532 11792164 DRD1 dopamine receptor D1 gene DOID:9007692 Insulin Resistance ISO RGD:2518 D RGD:9068941 20200609 RGD associated with Obesity;protein:increased serine phosphorylation:renal proximal tubule PMID:15798088|REF_RGD_ID:2302119 11792164 DRD1 dopamine receptor D1 gene DOID:9007980 Sleep Deprivation ISO RGD:2518 D RGD:9068941 20200609 RGD protein:increased expression:hypothalamus PMID:25433096|REF_RGD_ID:13506946 11792164 DRD1 dopamine receptor D1 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:70828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10858612|PMID:16982285|PMID:19520364|PMID:7845605 11792164 DRD1 dopamine receptor D1 gene DOID:9008953 Binge-Eating Disorder ISO RGD:2518 D RGD:9068941 20200609 RGD PMID:28821448|REF_RGD_ID:13506951 11792164 DRD1 dopamine receptor D1 gene DOID:9970 obesity ISO RGD:2518 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:renal proximal tubule, membrane (rat) PMID:15983225|REF_RGD_ID:7248449 11792164 DRD1 dopamine receptor D1 gene DOID:9970 obesity treatment ISO RGD:2518 D RGD:9068941 20200609 RGD PMID:17191082|REF_RGD_ID:7248552 11792164 DRD1 dopamine receptor D1 gene DOID:9976 heroin dependence ISO RGD:2518 D RGD:9068941 20200609 RGD PMID:28598964|REF_RGD_ID:13506959 11792171 ARHGAP20 Rho GTPase activating protein 20 gene DOID:10283 prostate cancer ISO RGD:1350363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11792171 ARHGAP20 Rho GTPase activating protein 20 gene DOID:1059 intellectual disability ISO RGD:1350363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11792171 ARHGAP20 Rho GTPase activating protein 20 gene DOID:12704 ataxia telangiectasia ISO RGD:1350363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11792171 ARHGAP20 Rho GTPase activating protein 20 gene DOID:630 genetic disease ISO RGD:1350363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792171 ARHGAP20 Rho GTPase activating protein 20 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1350363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11792203 ECHDC1 ethylmalonyl-CoA decarboxylase 1 gene DOID:0080154 short chain acyl-CoA dehydrogenase deficiency ISO RGD:1346197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase PMID:25741868 11792203 ECHDC1 ethylmalonyl-CoA decarboxylase 1 gene DOID:1909 melanoma ISO RGD:1346197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11792203 ECHDC1 ethylmalonyl-CoA decarboxylase 1 gene DOID:630 genetic disease ISO RGD:1346197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792203 ECHDC1 ethylmalonyl-CoA decarboxylase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11792230 SLCO1C1 solute carrier organic anion transporter family member 1C1 gene DOID:0060041 autism spectrum disorder ISO RGD:731528 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11792230 SLCO1C1 solute carrier organic anion transporter family member 1C1 gene DOID:12236 primary biliary cholangitis ISO RGD:628660 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:15770136|REF_RGD_ID:14700810 11792230 SLCO1C1 solute carrier organic anion transporter family member 1C1 gene DOID:630 genetic disease ISO RGD:731528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792256 KRT27 keratin 27 gene DOID:630 genetic disease ISO RGD:1345701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792272 LOC100995944 translational activator of cytochrome c oxidase 1 gene DOID:3652 Leigh disease ISO RGD:1602721 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19503089 11792272 LOC100995944 translational activator of cytochrome c oxidase 1 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1602721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:19503089|PMID:20727754|PMID:25741868|PMID:28492532 11792272 LOC100995944 translational activator of cytochrome c oxidase 1 gene DOID:630 genetic disease ISO RGD:1602721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11792272 LOC100995944 translational activator of cytochrome c oxidase 1 gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:1602721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:19503089|PMID:20727754|PMID:25741868 11792272 LOC100995944 translational activator of cytochrome c oxidase 1 gene DOID:9007489 Mitochondrial Complex IV Deficiency, Nuclear Type 8 ISO RGD:1602721 D RGD:7240710 20201111 OMIM 11792272 LOC100995944 translational activator of cytochrome c oxidase 1 gene DOID:9007489 Mitochondrial Complex IV Deficiency, Nuclear Type 8 ISO RGD:1602721 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8 PMID:19503089|PMID:20727754|PMID:25044680|PMID:25741868|PMID:28492532 11792306 PRSS41 serine protease 41 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:2301124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11792306 PRSS41 serine protease 41 gene DOID:1826 epilepsy ISO RGD:2301124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11792306 PRSS41 serine protease 41 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:2301124 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11792306 PRSS41 serine protease 41 gene DOID:630 genetic disease ISO RGD:2301124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792331 TECR trans-2,3-enoyl-CoA reductase gene DOID:0081188 autosomal recessive intellectual developmental disorder 14 ISO RGD:733590 D RGD:7240710 20180130 OMIM 11792331 TECR trans-2,3-enoyl-CoA reductase gene DOID:0081188 autosomal recessive intellectual developmental disorder 14 ISO RGD:733590 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 14 PMID:11590547|PMID:21212097|PMID:22981120|PMID:24220030|PMID:25741868 11792331 TECR trans-2,3-enoyl-CoA reductase gene DOID:630 genetic disease ISO RGD:733590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11792356 METTL4 methyltransferase 4, N6-adenosine gene DOID:1059 intellectual disability ISO RGD:1346719 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11792356 METTL4 methyltransferase 4, N6-adenosine gene DOID:630 genetic disease ISO RGD:1346719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792374 RSPO2 R-spondin 2 gene DOID:0112193 tetraamelia syndrome 2 ISO RGD:1603855 D RGD:7240710 20190605 OMIM 11792374 RSPO2 R-spondin 2 gene DOID:0112193 tetraamelia syndrome 2 ISO RGD:1603855 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Tetraamelia syndrome 2 PMID:25741868|PMID:28492532|PMID:29769720 11792374 RSPO2 R-spondin 2 gene DOID:630 genetic disease ISO RGD:1603855 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11792374 RSPO2 R-spondin 2 gene DOID:9002753 Humerofemoral Hypoplasia with Radiotibial Ray Deficiency ISO RGD:1603855 D RGD:7240710 20190717 OMIM 11792374 RSPO2 R-spondin 2 gene DOID:9002753 Humerofemoral Hypoplasia with Radiotibial Ray Deficiency ISO RGD:1603855 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Humerofemoral hypoplasia with radiotibial ray deficiency PMID:25741868|PMID:28492532|PMID:29769720 11792388 HINT2 histidine triad nucleotide binding protein 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1318948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11792388 HINT2 histidine triad nucleotide binding protein 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1318948 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11792388 HINT2 histidine triad nucleotide binding protein 2 gene DOID:0080942 anauxetic dysplasia ISO RGD:1318948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11792388 HINT2 histidine triad nucleotide binding protein 2 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1318948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11792388 HINT2 histidine triad nucleotide binding protein 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1318948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11792388 HINT2 histidine triad nucleotide binding protein 2 gene DOID:630 genetic disease ISO RGD:1318948 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792388 HINT2 histidine triad nucleotide binding protein 2 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1318948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11792388 HINT2 histidine triad nucleotide binding protein 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11792388 HINT2 histidine triad nucleotide binding protein 2 gene DOID:9870 galactosemia ISO RGD:1318948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11792402 MALRD1 MAM and LDL receptor class A domain containing 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1346421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder 11792434 DCUN1D3 defective in cullin neddylation 1 domain containing 3 gene DOID:630 genetic disease ISO RGD:1602987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792462 FRMD4B FERM domain containing 4B gene DOID:0060224 atrial fibrillation ISO RGD:1348430 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11792462 FRMD4B FERM domain containing 4B gene DOID:630 genetic disease ISO RGD:1348430 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792496 YIPF5 Yip1 domain family member 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602093 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11792496 YIPF5 Yip1 domain family member 5 gene DOID:630 genetic disease ISO RGD:1602093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792496 YIPF5 Yip1 domain family member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11792496 YIPF5 Yip1 domain family member 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602093 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11792496 YIPF5 Yip1 domain family member 5 gene DOID:9007409 Microcephaly, Epilepsy, and Diabetes Syndrome 2 ISO RGD:1602093 D RGD:7240710 20210505 OMIM 11792496 YIPF5 Yip1 domain family member 5 gene DOID:9007409 Microcephaly, Epilepsy, and Diabetes Syndrome 2 ISO RGD:1602093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome 2 PMID:25741868|PMID:33164986 11792506 SUFU SUFU negative regulator of hedgehog signaling gene DOID:0050902 medulloblastoma ISO RGD:1346700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:12068298|PMID:17102621|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:24651015|PMID:24728327|PMID:25326637|PMID:25403219|PMID:25741868|PMID:26467025|PMID:26580448|PMID:28492532|PMID:28717660|PMID:28873162|PMID:29186568|PMID:29641532|PMID:29753700|PMID:33024317|PMID:34056767 11792506 SUFU SUFU negative regulator of hedgehog signaling gene DOID:0050902 medulloblastoma susceptibility ISO RGD:1346700 D RGD:7240710 20230517 OMIM 11792506 SUFU SUFU negative regulator of hedgehog signaling gene DOID:0060071 pre-malignant neoplasm ISO RGD:1559462 D RGD:9068941 20220114 RGD mRNA:decreased expression:stomach mucosa (rat) PMID:30537251|REF_RGD_ID:150520178 11792506 SUFU SUFU negative regulator of hedgehog signaling gene DOID:0080278 Joubert syndrome 32 ISO RGD:1346700 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Joubert syndrome 32 PMID:22508808|PMID:25741868|PMID:27930734|PMID:28492532|PMID:28965847 11792506 SUFU SUFU negative regulator of hedgehog signaling gene DOID:0080278 Joubert syndrome 32 susceptibility ISO RGD:1346700 D RGD:7240710 20230517 OMIM 11792506 SUFU SUFU negative regulator of hedgehog signaling gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1346700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified PMID:25741868|PMID:28492532 11792506 SUFU SUFU negative regulator of hedgehog signaling gene DOID:10283 prostate cancer ISO RGD:1346700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 11792506 SUFU SUFU negative regulator of hedgehog signaling gene DOID:2120 focal dermal hypoplasia ISO RGD:1346700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gorlin-Goltz Syndrome PMID:12068298|PMID:19533801|PMID:21188540|PMID:25741868|PMID:28492532 11792506 SUFU SUFU negative regulator of hedgehog signaling gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1346700 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:12068298|PMID:16199547|PMID:17102621|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:23265383|PMID:23826113|PMID:24651015|PMID:24728327|PMID:25403219|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26677030|PMID:27363716|PMID:27930734|PMID:28050010|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29356994|PMID:29489754|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:31639285|PMID:32278351|PMID:32295625|PMID:33024317|PMID:34056767|PMID:34589056|PMID:9536098 11792506 SUFU SUFU negative regulator of hedgehog signaling gene DOID:2513 basal cell carcinoma ISO RGD:1346700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 11792506 SUFU SUFU negative regulator of hedgehog signaling gene DOID:3073 brain glioblastoma multiforme ISO RGD:1346700 D RGD:9068941 20220114 RGD human, rat, and/or mouse glioma cells in a mouse model PMID:30790292|REF_RGD_ID:150573813 11792506 SUFU SUFU negative regulator of hedgehog signaling gene DOID:3073 brain glioblastoma multiforme ISO RGD:1556878 D RGD:9068941 20220114 RGD human, rat, and/or mouse glioma cells in a mouse model PMID:30790292|REF_RGD_ID:150573813 11792506 SUFU SUFU negative regulator of hedgehog signaling gene DOID:3073 brain glioblastoma multiforme ISO RGD:1559462 D RGD:9068941 20220114 RGD human, rat, and/or mouse glioma cells in a mouse model PMID:30790292|REF_RGD_ID:150573813 11792506 SUFU SUFU negative regulator of hedgehog signaling gene DOID:3840 craniopharyngioma ISO RGD:1346700 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Craniopharyngioma PMID:25741868|PMID:28492532|PMID:29641532 11792506 SUFU SUFU negative regulator of hedgehog signaling gene DOID:3873 desmoplastic/nodular medulloblastoma ISO RGD:1346700 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma PMID:12068298 11792506 SUFU SUFU negative regulator of hedgehog signaling gene DOID:4586 familial meningioma ISO RGD:1346700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial meningioma PMID:22958902|PMID:25741868 11792506 SUFU SUFU negative regulator of hedgehog signaling gene DOID:4586 familial meningioma susceptibility ISO RGD:1346700 D RGD:7240710 20230517 OMIM 11792506 SUFU SUFU negative regulator of hedgehog signaling gene DOID:4621 holoprosencephaly ISO RGD:1346700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microform holoprosencephaly PMID:24728327|PMID:27363716|PMID:28492532 11792506 SUFU SUFU negative regulator of hedgehog signaling gene DOID:630 genetic disease ISO RGD:1346700 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11792506 SUFU SUFU negative regulator of hedgehog signaling gene DOID:8418 congenital fibrosarcoma ISO RGD:1346700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital fibrosarcoma 11792506 SUFU SUFU negative regulator of hedgehog signaling gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346700 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11792506 SUFU SUFU negative regulator of hedgehog signaling gene DOID:9005987 Basal Cell Nevus Syndrome 1 ISO RGD:1346700 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: BASAL CELL NEVUS SYNDROME 1 PMID:12068298|PMID:19533801|PMID:21188540|PMID:25741868|PMID:28492532 11792506 SUFU SUFU negative regulator of hedgehog signaling gene DOID:9006702 Basal Cell Nevus Syndrome 2 ISO RGD:1346700 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Basal cell nevus syndrome 2 PMID:12068298|PMID:19533801|PMID:21188540|PMID:25741868|PMID:28492532 11792506 SUFU SUFU negative regulator of hedgehog signaling gene DOID:9006702 Basal Cell Nevus Syndrome 2 susceptibility ISO RGD:1346700 D RGD:7240710 20230517 OMIM 11792506 SUFU SUFU negative regulator of hedgehog signaling gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346700 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12068298|PMID:17102621|PMID:17576681|PMID:21188540|PMID:22508808|PMID:23826113|PMID:24728327|PMID:25287320|PMID:25403219|PMID:25741868|PMID:26184317|PMID:26467025|PMID:26580448|PMID:27363716|PMID:27930734|PMID:28050010|PMID:28166811|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:9536098 11792506 SUFU SUFU negative regulator of hedgehog signaling gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346700 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12068298|PMID:17102621|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:22958902|PMID:23826113|PMID:24651015|PMID:24728327|PMID:25287320|PMID:25403219|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26677030|PMID:27363716|PMID:27930734|PMID:28050010|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:32295625|PMID:33024317|PMID:34056767|PMID:34589056|PMID:9536098 11792506 SUFU SUFU negative regulator of hedgehog signaling gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11792522 HUS1B HUS1 checkpoint clamp component B gene DOID:630 genetic disease ISO RGD:1346290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792522 HUS1B HUS1 checkpoint clamp component B gene DOID:9007202 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA ISO RGD:1346290 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia 11792527 UBE2T ubiquitin conjugating enzyme E2 T gene DOID:0111081 Fanconi anemia complementation group T ISO RGD:1606013 D RGD:7240710 20180130 OMIM 11792527 UBE2T ubiquitin conjugating enzyme E2 T gene DOID:0111081 Fanconi anemia complementation group T ISO RGD:1606013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group T PMID:25741868|PMID:26046368|PMID:26119737|PMID:28492532 11792527 UBE2T ubiquitin conjugating enzyme E2 T gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11792527 UBE2T ubiquitin conjugating enzyme E2 T gene DOID:1540 parathyroid carcinoma ISO RGD:1606013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11792527 UBE2T ubiquitin conjugating enzyme E2 T gene DOID:684 hepatocellular carcinoma ISO RGD:1606013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11792527 UBE2T ubiquitin conjugating enzyme E2 T gene DOID:9002265 Kidney Neoplasms ISO RGD:1606013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 11792527 UBE2T ubiquitin conjugating enzyme E2 T gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606013 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11792527 UBE2T ubiquitin conjugating enzyme E2 T gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11792545 ST8SIA3 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 gene DOID:630 genetic disease ISO RGD:1606293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792553 LOC100973595 olfactory receptor 3A1 gene DOID:630 genetic disease ISO RGD:1347194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792559 APOF apolipoprotein F gene DOID:630 genetic disease ISO RGD:1344329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792559 APOF apolipoprotein F gene DOID:684 hepatocellular carcinoma ISO RGD:1344329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11792565 ALPK3 alpha kinase 3 gene DOID:0050700 cardiomyopathy ISO RGD:1344760 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:21441111|PMID:26846950|PMID:27106955|PMID:28492532|PMID:28630369|PMID:32480058|PMID:33191771|PMID:34263907 11792565 ALPK3 alpha kinase 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1344760 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:21441111|PMID:24033266|PMID:26846950|PMID:27106955|PMID:28492532|PMID:30847666|PMID:32480058|PMID:34263907 11792565 ALPK3 alpha kinase 3 gene DOID:2717 Bloom syndrome ISO RGD:1344760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11792565 ALPK3 alpha kinase 3 gene DOID:630 genetic disease ISO RGD:1344760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11792565 ALPK3 alpha kinase 3 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1344760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy 11792565 ALPK3 alpha kinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:21441111|PMID:25741868|PMID:26846950|PMID:27106955|PMID:28492532|PMID:28630369|PMID:29661763|PMID:32480058|PMID:34263907 11792565 ALPK3 alpha kinase 3 gene DOID:9009188 Hypertrophic Cardiomyopathy 27 ISO RGD:1344760 D RGD:7240710 20190315 OMIM 11792565 ALPK3 alpha kinase 3 gene DOID:9009188 Hypertrophic Cardiomyopathy 27 ISO RGD:1344760 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic 27 PMID:17576681|PMID:21441111|PMID:24033266|PMID:25741868|PMID:26846950|PMID:27106955|PMID:28492532|PMID:28630369|PMID:29661763|PMID:30046096|PMID:30192042|PMID:30513141|PMID:30847666|PMID:31074094|PMID:32442321|PMID:32480058|PMID:32746448|PMID:33076350|PMID:34263907|PMID:34526680|PMID:9536098 11792565 ALPK3 alpha kinase 3 gene DOID:9256 colorectal cancer ISO RGD:1344760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11792582 LOC100977039 supervillin gene DOID:0112108 myofibrillar myopathy 10 ISO RGD:1314924 D RGD:7240710 20201021 OMIM 11792582 LOC100977039 supervillin gene DOID:0112108 myofibrillar myopathy 10 ISO RGD:1314924 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 10 PMID:25741868|PMID:28492532|PMID:32779703 11792582 LOC100977039 supervillin gene DOID:630 genetic disease ISO RGD:1314924 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11792582 LOC100977039 supervillin gene DOID:684 hepatocellular carcinoma ISO RGD:1314924 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 11792582 LOC100977039 supervillin gene DOID:9119 acute myeloid leukemia ISO RGD:1314924 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11792636 CHST12 carbohydrate sulfotransferase 12 gene DOID:0060041 autism spectrum disorder ISO RGD:1317861 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11792636 CHST12 carbohydrate sulfotransferase 12 gene DOID:10763 hypertension ISO RGD:1308214 D RGD:9068941 20210122 RGD mRNA:decreased expression:renal cortex and medulla (rat) PMID:25001272|REF_RGD_ID:8693701 11792636 CHST12 carbohydrate sulfotransferase 12 gene DOID:630 genetic disease ISO RGD:1317861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792650 VGLL4 vestigial like family member 4 gene DOID:630 genetic disease ISO RGD:1323223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792650 VGLL4 vestigial like family member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11792666 SESTD1 SEC14 and spectrin domain containing 1 gene DOID:630 genetic disease ISO RGD:1349123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792666 SESTD1 SEC14 and spectrin domain containing 1 gene DOID:9004657 Weight Gain ISO RGD:1349123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11792706 DTX3 deltex E3 ubiquitin ligase 3 gene DOID:607 paraplegia ISO RGD:1347578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11792706 DTX3 deltex E3 ubiquitin ligase 3 gene DOID:630 genetic disease ISO RGD:1347578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792706 DTX3 deltex E3 ubiquitin ligase 3 gene DOID:6846 familial melanoma ISO RGD:1347578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 11792706 DTX3 deltex E3 ubiquitin ligase 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1347578 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 11792717 ADRA1D adrenoceptor alpha 1D gene DOID:0090103 Huntington's disease-like 1 ISO RGD:734051 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11792717 ADRA1D adrenoceptor alpha 1D gene DOID:11612 polycystic ovary syndrome ISO RGD:62064 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:ovary PMID:15795180|REF_RGD_ID:5508374 11792717 ADRA1D adrenoceptor alpha 1D gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:734051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11792717 ADRA1D adrenoceptor alpha 1D gene DOID:630 genetic disease ISO RGD:734051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792717 ADRA1D adrenoceptor alpha 1D gene DOID:9775 diastolic heart failure ISO RGD:734051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 11792724 PHC3 polyhomeotic homolog 3 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1317513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 11792724 PHC3 polyhomeotic homolog 3 gene DOID:1062 Fanconi syndrome ISO RGD:1317513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 11792724 PHC3 polyhomeotic homolog 3 gene DOID:630 genetic disease ISO RGD:1317513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792765 ACVR2A activin A receptor type 2A gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:731811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:21981781|PMID:23632792 11792765 ACVR2A activin A receptor type 2A gene DOID:1793 pancreatic cancer ISO RGD:731811 D RGD:9068941 20200609 RGD PMID:9714055|REF_RGD_ID:2317217 11792765 ACVR2A activin A receptor type 2A gene DOID:219 colon cancer ISO RGD:731811 D RGD:9068941 20200609 RGD DNA:mutation:polyadenine tract PMID:14988818|REF_RGD_ID:2301065 11792765 ACVR2A activin A receptor type 2A gene DOID:3883 Lynch syndrome ISO RGD:731811 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 11792765 ACVR2A activin A receptor type 2A gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1550139 D RGD:9068941 20220825 MouseDO OMIM:261800 11792765 ACVR2A activin A receptor type 2A gene DOID:630 genetic disease ISO RGD:731811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792765 ACVR2A activin A receptor type 2A gene DOID:9000027 Microsatellite Instability ISO RGD:731811 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 11792765 ACVR2A activin A receptor type 2A gene DOID:9000965 Neoplasm Metastasis exacerbates ISO RGD:731811 D RGD:9068941 20220224 RGD associated with colon cancer;mRNA,protein:decreased expression:colon (human) PMID:30310521|REF_RGD_ID:151361136 11792765 ACVR2A activin A receptor type 2A gene DOID:9002304 Prostatic Neoplasms ISO RGD:731811 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:16337854|REF_RGD_ID:2301061 11792765 ACVR2A activin A receptor type 2A gene DOID:9008763 Femoral Fractures ISO RGD:70911 D RGD:9068941 20200609 RGD PMID:9076583|REF_RGD_ID:2325239 11792779 ACR acrosin gene DOID:0060041 autism spectrum disorder ISO RGD:736688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984749|PMID:21984750|PMID:21984751|PMID:25255310 11792779 ACR acrosin gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:736688 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 11792779 ACR acrosin gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:736688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11792779 ACR acrosin gene DOID:1059 intellectual disability ISO RGD:736688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31690835 11792779 ACR acrosin gene DOID:630 genetic disease ISO RGD:736688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792788 CCDC200 coiled-coil domain containing 200 gene DOID:0080600 COVID-19 ISO RGD:6769766 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11792801 DHRS1 dehydrogenase/reductase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1352104 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11792801 DHRS1 dehydrogenase/reductase 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1352104 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11792801 DHRS1 dehydrogenase/reductase 1 gene DOID:630 genetic disease ISO RGD:1352104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792801 DHRS1 dehydrogenase/reductase 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1352104 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11792801 DHRS1 dehydrogenase/reductase 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1352104 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11792814 UBASH3A ubiquitin associated and SH3 domain containing A gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1321132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11792814 UBASH3A ubiquitin associated and SH3 domain containing A gene DOID:0110266 cataract 9 multiple types ISO RGD:1321132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11792814 UBASH3A ubiquitin associated and SH3 domain containing A gene DOID:14268 sclerosing cholangitis ISO RGD:1321132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27992413 11792814 UBASH3A ubiquitin associated and SH3 domain containing A gene DOID:630 genetic disease ISO RGD:1321132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792814 UBASH3A ubiquitin associated and SH3 domain containing A gene DOID:891 progressive myoclonus epilepsy ISO RGD:1321132 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11792814 UBASH3A ubiquitin associated and SH3 domain containing A gene DOID:9263 homocystinuria ISO RGD:1321132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11792814 UBASH3A ubiquitin associated and SH3 domain containing A gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11792840 ZNF774 zinc finger protein 774 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1606399 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 11792840 ZNF774 zinc finger protein 774 gene DOID:2717 Bloom syndrome ISO RGD:1606399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11792840 ZNF774 zinc finger protein 774 gene DOID:630 genetic disease ISO RGD:1606399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792840 ZNF774 zinc finger protein 774 gene DOID:9256 colorectal cancer ISO RGD:1606399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11792853 VAMP1 vesicle associated membrane protein 1 gene DOID:0050772 spastic ataxia 1 ISO RGD:736120 D RGD:7240710 20180130 OMIM 11792853 VAMP1 vesicle associated membrane protein 1 gene DOID:0050772 spastic ataxia 1 ISO RGD:736120 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spastic ataxia 1 PMID:11774073|PMID:22958904|PMID:25741868|PMID:26467025|PMID:28168212|PMID:28492532 11792853 VAMP1 vesicle associated membrane protein 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:736120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11792853 VAMP1 vesicle associated membrane protein 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:736120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11792853 VAMP1 vesicle associated membrane protein 1 gene DOID:0111621 Temtamy syndrome ISO RGD:736120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11792853 VAMP1 vesicle associated membrane protein 1 gene DOID:3635 congenital myasthenic syndrome ISO RGD:736120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:28253535 11792853 VAMP1 vesicle associated membrane protein 1 gene DOID:607 paraplegia ISO RGD:736120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:11774073|PMID:17576681|PMID:22958904|PMID:25741868|PMID:26467025|PMID:28168212|PMID:28253535|PMID:28492532|PMID:30293248|PMID:33631708|PMID:9536098 11792853 VAMP1 vesicle associated membrane protein 1 gene DOID:9004718 Congenital Myasthenic Syndrome 25 ISO RGD:736120 D RGD:7240710 20190315 OMIM 11792853 VAMP1 vesicle associated membrane protein 1 gene DOID:9004718 Congenital Myasthenic Syndrome 25 ISO RGD:736120 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 25, presynaptic PMID:25741868|PMID:26467025|PMID:28168212|PMID:28253535|PMID:28492532|PMID:28600779 11792853 VAMP1 vesicle associated membrane protein 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:736120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11792884 TRAF2 TNF receptor associated factor 2 gene DOID:0050777 Joubert syndrome ISO RGD:1321367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11792884 TRAF2 TNF receptor associated factor 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1321367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11792884 TRAF2 TNF receptor associated factor 2 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1321367 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11792884 TRAF2 TNF receptor associated factor 2 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1321367 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11792884 TRAF2 TNF receptor associated factor 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11792884 TRAF2 TNF receptor associated factor 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1321367 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11792884 TRAF2 TNF receptor associated factor 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1321367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 11792884 TRAF2 TNF receptor associated factor 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1321367 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11792884 TRAF2 TNF receptor associated factor 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1321367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11792884 TRAF2 TNF receptor associated factor 2 gene DOID:1826 epilepsy ISO RGD:1321367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11792884 TRAF2 TNF receptor associated factor 2 gene DOID:3652 Leigh disease ISO RGD:1321367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11792884 TRAF2 TNF receptor associated factor 2 gene DOID:630 genetic disease ISO RGD:1321367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792884 TRAF2 TNF receptor associated factor 2 gene DOID:9004283 Transplant Rejection treatment ISO RGD:1310457 D RGD:9068941 20200709 RGD PMID:31828147|REF_RGD_ID:35316072 11792884 TRAF2 TNF receptor associated factor 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1321367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11792908 GMPR guanosine monophosphate reductase gene DOID:630 genetic disease ISO RGD:733310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792908 GMPR guanosine monophosphate reductase gene DOID:676 juvenile rheumatoid arthritis ISO RGD:733310 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11792920 STK24 serine/threonine kinase 24 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1345827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 11792920 STK24 serine/threonine kinase 24 gene DOID:4621 holoprosencephaly ISO RGD:1345827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 11792920 STK24 serine/threonine kinase 24 gene DOID:630 genetic disease ISO RGD:1345827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792920 STK24 serine/threonine kinase 24 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1345827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11792935 PTGDS prostaglandin D2 synthase gene DOID:0050777 Joubert syndrome ISO RGD:737496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11792935 PTGDS prostaglandin D2 synthase gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:737496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11792935 PTGDS prostaglandin D2 synthase gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:737496 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11792935 PTGDS prostaglandin D2 synthase gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:737496 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11792935 PTGDS prostaglandin D2 synthase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:737496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11792935 PTGDS prostaglandin D2 synthase gene DOID:0080324 tuberous sclerosis 1 ISO RGD:737496 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11792935 PTGDS prostaglandin D2 synthase gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:737496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 11792935 PTGDS prostaglandin D2 synthase gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:737496 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11792935 PTGDS prostaglandin D2 synthase gene DOID:0081097 Rafiq syndrome ISO RGD:737496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11792935 PTGDS prostaglandin D2 synthase gene DOID:10003 sensorineural hearing loss ISO RGD:3433 D RGD:9068941 20200609 RGD protein:decreased expression:cochlea: PMID:23827367|REF_RGD_ID:7349365 11792935 PTGDS prostaglandin D2 synthase gene DOID:10763 hypertension ISO RGD:737496 D RGD:9068941 20200609 RGD protein:increased expression:serum, urine PMID:11882588|REF_RGD_ID:1642584 11792935 PTGDS prostaglandin D2 synthase gene DOID:11664 nephrosclerosis ISO RGD:737496 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:serum, urine PMID:11882588|REF_RGD_ID:1642584 11792935 PTGDS prostaglandin D2 synthase gene DOID:1826 epilepsy ISO RGD:737496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11792935 PTGDS prostaglandin D2 synthase gene DOID:2349 arteriosclerosis susceptibility ISO RGD:11182 D RGD:9068941 20200609 RGD PMID:15970590|REF_RGD_ID:1642581 11792935 PTGDS prostaglandin D2 synthase gene DOID:3407 carotid artery disease susceptibility ISO RGD:737496 D RGD:9068941 20200609 RGD associated with Hypertension;DNA:polymorphism:3'utr:4111A>C PMID:15325247|REF_RGD_ID:1642582 11792935 PTGDS prostaglandin D2 synthase gene DOID:3652 Leigh disease ISO RGD:737496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11792935 PTGDS prostaglandin D2 synthase gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:11182 D RGD:9068941 20200609 RGD PMID:15970590|REF_RGD_ID:1642581 11792935 PTGDS prostaglandin D2 synthase gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:737496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11792935 PTGDS prostaglandin D2 synthase gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:11182 D RGD:9068941 20200609 RGD PMID:15970590|REF_RGD_ID:1642581 11792935 PTGDS prostaglandin D2 synthase gene DOID:9352 type 2 diabetes mellitus ISO RGD:3433 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:16384826|REF_RGD_ID:1642580 11792946 ACRV1 acrosomal vesicle protein 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1351105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11792946 ACRV1 acrosomal vesicle protein 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1351105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11792946 ACRV1 acrosomal vesicle protein 1 gene DOID:10283 prostate cancer ISO RGD:1351105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11792946 ACRV1 acrosomal vesicle protein 1 gene DOID:5419 schizophrenia ISO RGD:1351105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11792946 ACRV1 acrosomal vesicle protein 1 gene DOID:630 genetic disease ISO RGD:1351105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792946 ACRV1 acrosomal vesicle protein 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1351105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11792946 ACRV1 acrosomal vesicle protein 1 gene DOID:9007661 Dwarfism ISO RGD:1351105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11792960 CPEB4 cytoplasmic polyadenylation element binding protein 4 gene DOID:10762 portal hypertension ISO RGD:1323642 D RGD:9068941 20200609 RGD protein:increased expression:mesentary PMID:26627607|REF_RGD_ID:11528851 11792960 CPEB4 cytoplasmic polyadenylation element binding protein 4 gene DOID:10762 portal hypertension treatment ISO RGD:1323643 D RGD:9068941 20200609 RGD PMID:26627607|REF_RGD_ID:11528851 11792960 CPEB4 cytoplasmic polyadenylation element binding protein 4 gene DOID:12236 primary biliary cholangitis ISO RGD:1323642 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:26627607|REF_RGD_ID:11528851 11792960 CPEB4 cytoplasmic polyadenylation element binding protein 4 gene DOID:5082 liver cirrhosis ISO RGD:1323642 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic; protein:increased expression:liver PMID:26627607|REF_RGD_ID:11528851 11792960 CPEB4 cytoplasmic polyadenylation element binding protein 4 gene DOID:630 genetic disease ISO RGD:1323642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792979 SPNS2 SPNS lysolipid transporter 2, sphingosine-1-phosphate gene DOID:0111643 autosomal recessive nonsyndromic deafness 115 ISO RGD:1625643 D RGD:7240710 20190626 OMIM 11792979 SPNS2 SPNS lysolipid transporter 2, sphingosine-1-phosphate gene DOID:0111643 autosomal recessive nonsyndromic deafness 115 ISO RGD:1625643 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 115 PMID:25741868|PMID:28492532 11792979 SPNS2 SPNS lysolipid transporter 2, sphingosine-1-phosphate gene DOID:10003 sensorineural hearing loss ISO RGD:1625643 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 11792979 SPNS2 SPNS lysolipid transporter 2, sphingosine-1-phosphate gene DOID:630 genetic disease ISO RGD:1625643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792979 SPNS2 SPNS lysolipid transporter 2, sphingosine-1-phosphate gene DOID:9004538 Hearing Loss ISO RGD:1625643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 11792999 ST3GAL1 ST3 beta-galactoside alpha-2,3-sialyltransferase 1 gene DOID:630 genetic disease ISO RGD:1603709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11792999 ST3GAL1 ST3 beta-galactoside alpha-2,3-sialyltransferase 1 gene DOID:9006549 Enterovirus Infections ISO RGD:1603709 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28446605 11793014 ZIM3 zinc finger imprinted 3 gene DOID:630 genetic disease ISO RGD:1352082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11793027 GATAD2A GATA zinc finger domain containing 2A gene DOID:630 genetic disease ISO RGD:1603219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11793027 GATAD2A GATA zinc finger domain containing 2A gene DOID:9000217 Stomach Neoplasms ISO RGD:1603219 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35362730 11793027 GATAD2A GATA zinc finger domain containing 2A gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1603219 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35362730 11793064 IQCD IQ motif containing D gene DOID:630 genetic disease ISO RGD:1346446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11793085 KCNH5 potassium voltage-gated channel subfamily H member 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:17576681|PMID:23647072|PMID:24133262|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9536098 11793085 KCNH5 potassium voltage-gated channel subfamily H member 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731415 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:23647072|PMID:24133262|PMID:25741868|PMID:28492532|PMID:31440721|PMID:32725632|PMID:35874597|PMID:36307226|PMID:9536098 11793085 KCNH5 potassium voltage-gated channel subfamily H member 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731415 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:23647072|PMID:24133262|PMID:25741868|PMID:28492532|PMID:31440721|PMID:32725632|PMID:35874597|PMID:36307226|PMID:9536098 11793085 KCNH5 potassium voltage-gated channel subfamily H member 5 gene DOID:1826 epilepsy ISO RGD:731415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11793085 KCNH5 potassium voltage-gated channel subfamily H member 5 gene DOID:630 genetic disease ISO RGD:731415 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23647072|PMID:24133262|PMID:28492532|PMID:31440721|PMID:32725632|PMID:35874597|PMID:36307226 11793101 SOAT2 sterol O-acyltransferase 2 gene DOID:10211 cholelithiasis susceptibility ISO RGD:730964 D RGD:9068941 20200609 RGD PMID:11100118|REF_RGD_ID:1556516 11793101 SOAT2 sterol O-acyltransferase 2 gene DOID:10608 celiac disease ISO RGD:730963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 11793101 SOAT2 sterol O-acyltransferase 2 gene DOID:1184 nephrotic syndrome ISO RGD:628865 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:11967026|REF_RGD_ID:730139 11793101 SOAT2 sterol O-acyltransferase 2 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:730964 D RGD:9068941 20200609 RGD PMID:17431188|REF_RGD_ID:1625282 11793101 SOAT2 sterol O-acyltransferase 2 gene DOID:3393 coronary artery disease susceptibility ISO RGD:730963 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.E41G, p.T734I, IVS4-57_-58ins48bp (human) PMID:16195894|REF_RGD_ID:1601112 11793101 SOAT2 sterol O-acyltransferase 2 gene DOID:630 genetic disease ISO RGD:730963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11793101 SOAT2 sterol O-acyltransferase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:730963 D RGD:9068941 20200609 RGD PMID:16274362|REF_RGD_ID:1581190 11793101 SOAT2 sterol O-acyltransferase 2 gene DOID:783 end stage renal disease ISO RGD:628865 D RGD:9068941 20200609 RGD PMID:12217884|REF_RGD_ID:625687 11793101 SOAT2 sterol O-acyltransferase 2 gene DOID:9000808 Hypercholesterolemia susceptibility ISO RGD:730964 D RGD:9068941 20200609 RGD PMID:11100118|REF_RGD_ID:1556516 11793101 SOAT2 sterol O-acyltransferase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628865 D RGD:9068941 20200609 RGD PMID:15242859|REF_RGD_ID:1581191 11793101 SOAT2 sterol O-acyltransferase 2 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:730963 D RGD:9068941 20200609 RGD DNA:SNPs PMID:14557872|REF_RGD_ID:1581921 11793150 EPN2 epsin 2 gene DOID:0050777 Joubert syndrome ISO RGD:1351510 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11793150 EPN2 epsin 2 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1351510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 11793150 EPN2 epsin 2 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1351510 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 11793150 EPN2 epsin 2 gene DOID:12849 autistic disorder ISO RGD:1351510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11793150 EPN2 epsin 2 gene DOID:630 genetic disease ISO RGD:1351510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11793150 EPN2 epsin 2 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1351510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 11793181 KCNMB3 potassium calcium-activated channel subfamily M regulatory beta subunit 3 gene DOID:0111546 Currarino syndrome ISO RGD:1323526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11793181 KCNMB3 potassium calcium-activated channel subfamily M regulatory beta subunit 3 gene DOID:630 genetic disease ISO RGD:1323526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11793181 KCNMB3 potassium calcium-activated channel subfamily M regulatory beta subunit 3 gene DOID:6457 Cowden syndrome ISO RGD:1323526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cowden syndrome PMID:28492532 11793247 GNB3 G protein subunit beta 3 gene DOID:0050534 congenital stationary night blindness ISO RGD:1346162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11793247 GNB3 G protein subunit beta 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1346162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11793247 GNB3 G protein subunit beta 3 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1346162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11793247 GNB3 G protein subunit beta 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1346162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11793247 GNB3 G protein subunit beta 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1346162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11793247 GNB3 G protein subunit beta 3 gene DOID:0110866 congenital stationary night blindness 1H ISO RGD:1346162 D RGD:7240710 20230517 OMIM 11793247 GNB3 G protein subunit beta 3 gene DOID:0110866 congenital stationary night blindness 1H ISO RGD:1346162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1H PMID:10477144|PMID:10523525|PMID:10770297|PMID:10770309|PMID:10770310|PMID:11322952|PMID:12668921|PMID:25741868|PMID:27063057|PMID:28492532|PMID:9425898 11793247 GNB3 G protein subunit beta 3 gene DOID:0111621 Temtamy syndrome ISO RGD:1346162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11793247 GNB3 G protein subunit beta 3 gene DOID:10763 hypertension ISO RGD:1346162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15961981|PMID:16141801 11793247 GNB3 G protein subunit beta 3 gene DOID:10763 hypertension no_association ISO RGD:1346162 D RGD:9068941 20200609 RGD DNA:polymorphism: :multiple (human) PMID:16908025|REF_RGD_ID:2313206 11793247 GNB3 G protein subunit beta 3 gene DOID:10763 hypertension susceptibility ISO RGD:1346162 D RGD:9068941 20200806 RGD DNA:SNP:cds: 825C>T (human) PMID:11230982|REF_RGD_ID:1580408 11793247 GNB3 G protein subunit beta 3 gene DOID:10763 hypertension susceptibility ISO RGD:1346162 D RGD:9068941 20200806 RGD DNA:SNP:cds:825C>T (human) PMID:10526907|REF_RGD_ID:1580410 11793247 GNB3 G protein subunit beta 3 gene DOID:10825 essential hypertension ISO RGD:1346162 D RGD:7240710 20230517 OMIM 11793247 GNB3 G protein subunit beta 3 gene DOID:10825 essential hypertension ISO RGD:1346162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertension, essential, susceptibility to PMID:10477144|PMID:10523525|PMID:10770297|PMID:10770309|PMID:10770310|PMID:11322952|PMID:12668921|PMID:25741868|PMID:28492532|PMID:9425898 11793247 GNB3 G protein subunit beta 3 gene DOID:1168 familial hyperlipidemia susceptibility ISO RGD:1346162 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :825C>T (human) PMID:17161225|REF_RGD_ID:2313205 11793247 GNB3 G protein subunit beta 3 gene DOID:1596 depressive disorder susceptibility ISO RGD:1346162 D RGD:9068941 20200806 RGD DNA:SNP:cds: 825C>T (human) PMID:12634518|REF_RGD_ID:1358639 11793247 GNB3 G protein subunit beta 3 gene DOID:3393 coronary artery disease ISO RGD:1346162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16141801 11793247 GNB3 G protein subunit beta 3 gene DOID:3407 carotid artery disease ISO RGD:1346162 D RGD:9068941 20200609 RGD PMID:12624279|REF_RGD_ID:1580411 11793247 GNB3 G protein subunit beta 3 gene DOID:630 genetic disease ISO RGD:1346162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11793247 GNB3 G protein subunit beta 3 gene DOID:9004657 Weight Gain ISO RGD:1346162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16141801 11793247 GNB3 G protein subunit beta 3 gene DOID:9005950 Orthostatic Hypotension susceptibility ISO RGD:1346162 D RGD:9068941 20200609 RGD DNA:SNP: : 825C>T (human) PMID:11910300|REF_RGD_ID:1580406 11793247 GNB3 G protein subunit beta 3 gene DOID:9007692 Insulin Resistance ISO RGD:1346162 D RGD:9068941 20200609 RGD DNA:polymorphism: :825C>T (human) PMID:12624279|REF_RGD_ID:1580411 11793247 GNB3 G protein subunit beta 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1346162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11793247 GNB3 G protein subunit beta 3 gene DOID:9351 diabetes mellitus no_association ISO RGD:1346162 D RGD:9068941 20200609 RGD DNA:polymorphism: :multiple (human) PMID:16908025|REF_RGD_ID:2313206 11793247 GNB3 G protein subunit beta 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12511541 11793247 GNB3 G protein subunit beta 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346162 D RGD:9068941 20200609 RGD DNA:polymorphism: :825C>T (human) PMID:18656447|REF_RGD_ID:2313204 11793247 GNB3 G protein subunit beta 3 gene DOID:9970 obesity ISO RGD:1346162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15961981|PMID:16141801 11793264 DDX47 DEAD-box helicase 47 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1321338 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 11793264 DDX47 DEAD-box helicase 47 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1321338 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 11793264 DDX47 DEAD-box helicase 47 gene DOID:1059 intellectual disability ISO RGD:1321338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11793264 DDX47 DEAD-box helicase 47 gene DOID:630 genetic disease ISO RGD:1321338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11793280 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1349412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11793280 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:0111940 immunodeficiency 42 ISO RGD:1349412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11793280 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1349412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11793280 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1349412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11793280 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:0112376 muscular dystrophy-dystroglycanopathy type B15 ISO RGD:1349412 D RGD:7240710 20200902 OMIM 11793280 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:0112376 muscular dystrophy-dystroglycanopathy type B15 ISO RGD:1349412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 PMID:31469168 11793280 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:1540 parathyroid carcinoma ISO RGD:1349412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11793280 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:423 myopathy ISO RGD:1349412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 11793280 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:5812 MHC class II deficiency ISO RGD:1349412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11793280 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:630 genetic disease ISO RGD:1349412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11793280 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:9006227 Congenital Disorder of Glycosylation Type 1O ISO RGD:1349412 D RGD:7240710 20180130 OMIM 11793280 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:9006227 Congenital Disorder of Glycosylation Type 1O ISO RGD:1349412 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1O | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, DPM3-RELATED PMID:19576565|PMID:25741868|PMID:28492532|PMID:28803818|PMID:29246662|PMID:30931530|PMID:31266720|PMID:31469168 11793280 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11793290 PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1318621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11793290 PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1318621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11793290 PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:0110910 leukocyte adhesion deficiency 1 ISO RGD:1318621 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lymphocyte function-associated antigen 1 immunodeficiency PMID:17878938|PMID:26639818 11793290 PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1318621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11793290 PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:2978 carbohydrate metabolic disorder ISO RGD:1318621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10818001|PMID:17878938 11793290 PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:3146 lipid metabolism disorder ISO RGD:1318621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17878938 11793290 PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1318621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cholestanol storage disease PMID:10775536|PMID:26937392|PMID:28492532|PMID:9392430 11793290 PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:630 genetic disease ISO RGD:1318621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11793290 PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11793317 MAT2B methionine adenosyltransferase 2 non-catalytic beta subunit gene DOID:630 genetic disease ISO RGD:1606800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11793334 GAS2L2 growth arrest specific 2 like 2 gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:1317311 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 11793334 GAS2L2 growth arrest specific 2 like 2 gene DOID:0111858 primary ciliary dyskinesia 41 ISO RGD:1317311 D RGD:7240710 20190626 OMIM 11793334 GAS2L2 growth arrest specific 2 like 2 gene DOID:0111858 primary ciliary dyskinesia 41 ISO RGD:1317311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 41 PMID:25741868|PMID:30665704 11793334 GAS2L2 growth arrest specific 2 like 2 gene DOID:630 genetic disease ISO RGD:1317311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11793334 GAS2L2 growth arrest specific 2 like 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317311 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:30665704 11793345 LOC100971103 uncharacterized protein C20orf203 gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:2303842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency PMID:28492532 11793345 LOC100971103 uncharacterized protein C20orf203 gene DOID:630 genetic disease ISO RGD:2303842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11793349 SH2D5 SH2 domain containing 5 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1602949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11793349 SH2D5 SH2 domain containing 5 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1602949 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11793349 SH2D5 SH2 domain containing 5 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1602949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11793349 SH2D5 SH2 domain containing 5 gene DOID:630 genetic disease ISO RGD:1602949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11793349 SH2D5 SH2 domain containing 5 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1602949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11793369 FLI1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:0050902 medulloblastoma ISO RGD:1320394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 11793369 FLI1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:0111053 platelet-type bleeding disorder 15 ISO RGD:1320394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bleeding disorder platelet type macrothrombocytopenia PMID:23809206|PMID:26316623 11793369 FLI1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:0111723 Jacobsen Syndrome ISO RGD:1320394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 11q partial monosomy syndrome | ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:25741868|PMID:28255014|PMID:31064749|PMID:32581362 11793369 FLI1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:1588 thrombocytopenia ISO RGD:1320394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:24100448|PMID:32581362 11793369 FLI1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:2213 hemorrhagic disease ISO RGD:1320394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:24100448|PMID:32581362 11793369 FLI1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:3369 Ewing sarcoma ISO RGD:1320394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11772151|PMID:16646077|PMID:26214589 11793369 FLI1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:418 systemic scleroderma ISO RGD:1320395 D RGD:9068941 20220825 MouseDO OMIM:181750 11793369 FLI1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:5419 schizophrenia ISO RGD:1320394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11793369 FLI1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:630 genetic disease ISO RGD:1320394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11793369 FLI1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11793369 FLI1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:9003946 Platelet-Type Bleeding Disorder 21 ISO RGD:1320394 D RGD:7240710 20190315 OMIM 11793369 FLI1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:9003946 Platelet-Type Bleeding Disorder 21 ISO RGD:1320394 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 21 PMID:23809206|PMID:24100448|PMID:25741868|PMID:26316623|PMID:28255014|PMID:28492532|PMID:31064749|PMID:32581362|PMID:32987389|PMID:34355501 11793369 FLI1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1320394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11793369 FLI1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:9007661 Dwarfism ISO RGD:1320394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11793383 DOCK1 dedicator of cytokinesis 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1315227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11793383 DOCK1 dedicator of cytokinesis 1 gene DOID:0080600 COVID-19 ISO RGD:1315227 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11793383 DOCK1 dedicator of cytokinesis 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1315228 D RGD:9068941 20220825 MouseDO OMIM:188400 11793383 DOCK1 dedicator of cytokinesis 1 gene DOID:303 substance-related disorder ISO RGD:1315227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11793383 DOCK1 dedicator of cytokinesis 1 gene DOID:630 genetic disease ISO RGD:1315227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17670792|PMID:17765544|PMID:18332221|PMID:18591431|PMID:18820033|PMID:20829512|PMID:25022758|PMID:26527617|PMID:27662902|PMID:3372592 11793383 DOCK1 dedicator of cytokinesis 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1315228 D RGD:9068941 20220825 MouseDO OMIM:187500 11793438 KNSTRN kinetochore localized astrin (SPAG5) binding protein gene DOID:0080600 COVID-19 ISO RGD:1344647 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11793438 KNSTRN kinetochore localized astrin (SPAG5) binding protein gene DOID:1749 squamous cell carcinoma ISO RGD:1344647 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25194279 11793438 KNSTRN kinetochore localized astrin (SPAG5) binding protein gene DOID:1909 melanoma ISO RGD:1344647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:26619011 11793438 KNSTRN kinetochore localized astrin (SPAG5) binding protein gene DOID:2717 Bloom syndrome ISO RGD:1344647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11793438 KNSTRN kinetochore localized astrin (SPAG5) binding protein gene DOID:3151 skin squamous cell carcinoma ISO RGD:1344647 D RGD:9068941 20200609 RGD DNA:mutation:cds: p.Ala40Glu (human) PMID:30972880|REF_RGD_ID:28867225 11793438 KNSTRN kinetochore localized astrin (SPAG5) binding protein gene DOID:3151 skin squamous cell carcinoma ISO RGD:1344647 D RGD:9068941 20200609 RGD DNA:mutation:cds: p.Ser24Phe(human) PMID:25194279|REF_RGD_ID:28867226 11793438 KNSTRN kinetochore localized astrin (SPAG5) binding protein gene DOID:630 genetic disease ISO RGD:1344647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11793438 KNSTRN kinetochore localized astrin (SPAG5) binding protein gene DOID:8866 actinic keratosis severity ISO RGD:1344647 D RGD:9068941 20200609 RGD DNA:mutation:cds: p.Ala40Glu (human) PMID:30972880|REF_RGD_ID:28867225 11793438 KNSTRN kinetochore localized astrin (SPAG5) binding protein gene DOID:8923 skin melanoma ISO RGD:1344647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:26619011 11793438 KNSTRN kinetochore localized astrin (SPAG5) binding protein gene DOID:9000886 Roifman-Chitayat Syndrome ISO RGD:1344647 D RGD:7240710 20210505 OMIM 11793438 KNSTRN kinetochore localized astrin (SPAG5) binding protein gene DOID:9000886 Roifman-Chitayat Syndrome ISO RGD:1344647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic PMID:19863561|PMID:29180244 11793438 KNSTRN kinetochore localized astrin (SPAG5) binding protein gene DOID:9256 colorectal cancer ISO RGD:1344647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11793454 A1CF APOBEC1 complementation factor gene DOID:13189 gout ISO RGD:733348 D RGD:9068941 20200609 RGD PMID:28252667|REF_RGD_ID:13831120 11793454 A1CF APOBEC1 complementation factor gene DOID:13189 gout ISO RGD:733348 D RGD:9068941 20200609 RGD DNA:SNP: :rs10821905 (human) PMID:28679452|REF_RGD_ID:13831119 11793454 A1CF APOBEC1 complementation factor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11793454 A1CF APOBEC1 complementation factor gene DOID:630 genetic disease ISO RGD:733348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11793489 CENPT centromere protein T gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1604795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11793489 CENPT centromere protein T gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1604795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:25741868|PMID:28449119 11793489 CENPT centromere protein T gene DOID:630 genetic disease ISO RGD:1604795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11793489 CENPT centromere protein T gene DOID:655 inherited metabolic disorder ISO RGD:1604795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:25741868|PMID:28449119 11793489 CENPT centromere protein T gene DOID:9004567 Short Stature and Microcephaly with Genital Anomalies ISO RGD:1604795 D RGD:7240710 20200101 OMIM 11793489 CENPT centromere protein T gene DOID:9004567 Short Stature and Microcephaly with Genital Anomalies ISO RGD:1604795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature and microcephaly with genital anomalies PMID:25741868|PMID:29228025 11793511 LRRC20 leucine rich repeat containing 20 gene DOID:630 genetic disease ISO RGD:1602483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11793549 NOP2 NOP2 nucleolar protein gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1312158 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11793549 NOP2 NOP2 nucleolar protein gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1312158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11793549 NOP2 NOP2 nucleolar protein gene DOID:0111621 Temtamy syndrome ISO RGD:1312158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11793549 NOP2 NOP2 nucleolar protein gene DOID:630 genetic disease ISO RGD:1312158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11793549 NOP2 NOP2 nucleolar protein gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1312158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11793573 INTS6 integrator complex subunit 6 gene DOID:0060041 autism spectrum disorder ISO RGD:1319842 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11793573 INTS6 integrator complex subunit 6 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1319842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11793573 INTS6 integrator complex subunit 6 gene DOID:1059 intellectual disability ISO RGD:1319842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11793573 INTS6 integrator complex subunit 6 gene DOID:630 genetic disease ISO RGD:1319842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11793573 INTS6 integrator complex subunit 6 gene DOID:893 Wilson disease ISO RGD:1319842 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:28492532 11793607 BMP3 bone morphogenetic protein 3 gene DOID:630 genetic disease ISO RGD:735356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11793607 BMP3 bone morphogenetic protein 3 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:735356 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11793607 BMP3 bone morphogenetic protein 3 gene DOID:9001547 Tibial Fractures ISO RGD:2212 D RGD:9068941 20200609 RGD protein:increased expression:tibia PMID:16651391|REF_RGD_ID:2289037 11793614 RPRD2 regulation of nuclear pre-mRNA domain containing 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1601883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11793614 RPRD2 regulation of nuclear pre-mRNA domain containing 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1601883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11793614 RPRD2 regulation of nuclear pre-mRNA domain containing 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1601883 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11793614 RPRD2 regulation of nuclear pre-mRNA domain containing 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1601883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11793614 RPRD2 regulation of nuclear pre-mRNA domain containing 2 gene DOID:5812 MHC class II deficiency ISO RGD:1601883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11793614 RPRD2 regulation of nuclear pre-mRNA domain containing 2 gene DOID:630 genetic disease ISO RGD:1601883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11793614 RPRD2 regulation of nuclear pre-mRNA domain containing 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1601883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11793614 RPRD2 regulation of nuclear pre-mRNA domain containing 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11793639 COL12A1 collagen type XII alpha 1 chain gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:735743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11793639 COL12A1 collagen type XII alpha 1 chain gene DOID:0050558 Ullrich congenital muscular dystrophy ISO RGD:735743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 PMID:16199547|PMID:24334604|PMID:25741868|PMID:28492532|PMID:28973083 11793639 COL12A1 collagen type XII alpha 1 chain gene DOID:0050663 Bethlem myopathy ISO RGD:735743 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bethlem myopathy PMID:25741868|PMID:28492532 11793639 COL12A1 collagen type XII alpha 1 chain gene DOID:0110250 cataract 16 multiple types ISO RGD:735743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 16 multiple types PMID:25741868|PMID:28492532 11793639 COL12A1 collagen type XII alpha 1 chain gene DOID:1790 malignant mesothelioma ISO RGD:735743 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 11793639 COL12A1 collagen type XII alpha 1 chain gene DOID:630 genetic disease ISO RGD:735743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:24334604|PMID:25741868|PMID:27348394|PMID:28492532|PMID:28973083 11793639 COL12A1 collagen type XII alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735743 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11793639 COL12A1 collagen type XII alpha 1 chain gene DOID:9002723 Ullrich Congenital Muscular Dystrophy 2 ISO RGD:735743 D RGD:7240710 20180130 OMIM 11793639 COL12A1 collagen type XII alpha 1 chain gene DOID:9002723 Ullrich Congenital Muscular Dystrophy 2 ISO RGD:735743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COL12A1- Related Disorder | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 PMID:16199547|PMID:17576681|PMID:224334604|PMID:24334604|PMID:24334769|PMID:25741868|PMID:26362251|PMID:27159402|PMID:27348394|PMID:28492532|PMID:28973083|PMID:29342313|PMID:29858556|PMID:31127727|PMID:31273343|PMID:33146414|PMID:8601036|PMID:9536098 11793639 COL12A1 collagen type XII alpha 1 chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735743 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11793639 COL12A1 collagen type XII alpha 1 chain gene DOID:9006278 Bethlem Myopathy 2 ISO RGD:735743 D RGD:7240710 20180130 OMIM 11793639 COL12A1 collagen type XII alpha 1 chain gene DOID:9006278 Bethlem Myopathy 2 ISO RGD:735743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 2 PMID:24334604|PMID:24334769|PMID:25741868|PMID:28492532|PMID:29858556 11793639 COL12A1 collagen type XII alpha 1 chain gene DOID:9008086 Developmental Disabilities ISO RGD:735743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11793717 AKR1E2 aldo-keto reductase family 1 member E2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1320023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11793717 AKR1E2 aldo-keto reductase family 1 member E2 gene DOID:5419 schizophrenia ISO RGD:1320023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11793717 AKR1E2 aldo-keto reductase family 1 member E2 gene DOID:630 genetic disease ISO RGD:1320023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11793739 LIPN lipase family member N gene DOID:0060717 autosomal recessive congenital ichthyosis 8 ISO RGD:1349924 D RGD:7240710 20180130 OMIM 11793739 LIPN lipase family member N gene DOID:0060717 autosomal recessive congenital ichthyosis 8 ISO RGD:1349924 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 8 PMID:25741868|PMID:28492532 11793739 LIPN lipase family member N gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1349924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9286463|PMID:9467011 11793739 LIPN lipase family member N gene DOID:630 genetic disease ISO RGD:1349924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11793739 LIPN lipase family member N gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1349924 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532 11793762 PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 gene DOID:0110471 autosomal recessive nonsyndromic deafness 16 ISO RGD:1605707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 16 PMID:25741868 11793762 PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 gene DOID:2717 Bloom syndrome ISO RGD:1605707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11793762 PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 gene DOID:630 genetic disease ISO RGD:1605707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11793762 PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 gene DOID:9002477 Sensorineural Deafness and Male Infertility ISO RGD:1605707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness-infertility syndrome PMID:25741868 11793762 PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 gene DOID:9256 colorectal cancer ISO RGD:1605707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11793775 NTNG1 netrin G1 gene DOID:12849 autistic disorder ISO RGD:1350531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11793775 NTNG1 netrin G1 gene DOID:3312 bipolar disorder ISO RGD:1350531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17507910 11793775 NTNG1 netrin G1 gene DOID:5419 schizophrenia ISO RGD:1350531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17507910 11793775 NTNG1 netrin G1 gene DOID:630 genetic disease ISO RGD:1350531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11793775 NTNG1 netrin G1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 11793798 DHRS12 dehydrogenase/reductase 12 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1605940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11793798 DHRS12 dehydrogenase/reductase 12 gene DOID:1059 intellectual disability ISO RGD:1605940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11793798 DHRS12 dehydrogenase/reductase 12 gene DOID:630 genetic disease ISO RGD:1605940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11793798 DHRS12 dehydrogenase/reductase 12 gene DOID:893 Wilson disease ISO RGD:1605940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:28492532 11793808 ADPRHL1 ADP-ribosylhydrolase like 1 gene DOID:2222 factor X deficiency ISO RGD:1313790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 11793808 ADPRHL1 ADP-ribosylhydrolase like 1 gene DOID:630 genetic disease ISO RGD:1313790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11793826 C4H4orf3 chromosome 4 C4orf3 homolog gene DOID:630 genetic disease ISO RGD:1604907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11793826 C4H4orf3 chromosome 4 C4orf3 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11793837 SNAPC1 small nuclear RNA activating complex polypeptide 1 gene DOID:630 genetic disease ISO RGD:1312249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11793851 IQCF6 IQ motif containing F6 gene DOID:630 genetic disease ISO RGD:2302686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794008 CLEC2L C-type lectin domain family 2 member L gene DOID:0080690 RASopathy ISO RGD:1351189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 11794008 CLEC2L C-type lectin domain family 2 member L gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11794008 CLEC2L C-type lectin domain family 2 member L gene DOID:630 genetic disease ISO RGD:1351189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794018 TCAF2 TRPM8 channel associated factor 2 gene DOID:630 genetic disease ISO RGD:1603511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794038 LOC100991574 progesterone-induced-blocking factor 1 gene DOID:0050777 Joubert syndrome ISO RGD:1312894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:26167768|PMID:28492532 11794038 LOC100991574 progesterone-induced-blocking factor 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1312894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11794038 LOC100991574 progesterone-induced-blocking factor 1 gene DOID:0080279 Joubert syndrome 33 ISO RGD:1312894 D RGD:7240710 20190315 OMIM 11794038 LOC100991574 progesterone-induced-blocking factor 1 gene DOID:0080279 Joubert syndrome 33 ISO RGD:1312894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 33 PMID:25741868|PMID:26167768|PMID:28492532|PMID:29695797|PMID:30858804|PMID:31474318 11794038 LOC100991574 progesterone-induced-blocking factor 1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1312894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:25741868|PMID:26167768|PMID:30858804|PMID:31474318 11794038 LOC100991574 progesterone-induced-blocking factor 1 gene DOID:630 genetic disease ISO RGD:1312894 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11794038 LOC100991574 progesterone-induced-blocking factor 1 gene DOID:9000983 Encephalocele ISO RGD:1312894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cephalocele PMID:25741868|PMID:26167768|PMID:30858804|PMID:31474318 11794038 LOC100991574 progesterone-induced-blocking factor 1 gene DOID:9004410 Threatened Abortion ISO RGD:1312894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15760377 11794081 ZNF605 zinc finger protein 605 gene DOID:630 genetic disease ISO RGD:1353121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794081 ZNF605 zinc finger protein 605 gene DOID:9256 colorectal cancer ISO RGD:1353121 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:23230001|PMID:25948378|PMID:28492532|PMID:30503519 11794099 UNC5D unc-5 netrin receptor D gene DOID:630 genetic disease ISO RGD:1319479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794141 NDST1 N-deacetylase and N-sulfotransferase 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733822 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11794141 NDST1 N-deacetylase and N-sulfotransferase 1 gene DOID:0081210 autosomal recessive intellectual developmental disorder 46 ISO RGD:733822 D RGD:7240710 20180130 OMIM 11794141 NDST1 N-deacetylase and N-sulfotransferase 1 gene DOID:0081210 autosomal recessive intellectual developmental disorder 46 ISO RGD:733822 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 46 PMID:21937992|PMID:25125150|PMID:25741868|PMID:27620904|PMID:27870114|PMID:28492532 11794141 NDST1 N-deacetylase and N-sulfotransferase 1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:733822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16020517 11794141 NDST1 N-deacetylase and N-sulfotransferase 1 gene DOID:1059 intellectual disability ISO RGD:733822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11794141 NDST1 N-deacetylase and N-sulfotransferase 1 gene DOID:11198 DiGeorge syndrome ISO RGD:736720 D RGD:9068941 20220825 MouseDO OMIM:188400 11794141 NDST1 N-deacetylase and N-sulfotransferase 1 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:736720 D RGD:9068941 20220825 MouseDO OMIM:267450 11794141 NDST1 N-deacetylase and N-sulfotransferase 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:736720 D RGD:9068941 20220825 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 11794141 NDST1 N-deacetylase and N-sulfotransferase 1 gene DOID:630 genetic disease ISO RGD:733822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28211985|PMID:28492532|PMID:9536098 11794141 NDST1 N-deacetylase and N-sulfotransferase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733822 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11794141 NDST1 N-deacetylase and N-sulfotransferase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:733822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25125150|PMID:25741868|PMID:27620904|PMID:27870114|PMID:28492532 11794141 NDST1 N-deacetylase and N-sulfotransferase 1 gene DOID:9008296 Eye Abnormalities ISO RGD:733822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16020517 11794141 NDST1 N-deacetylase and N-sulfotransferase 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16020517 11794141 NDST1 N-deacetylase and N-sulfotransferase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11794169 UBOX5 U-box domain containing 5 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1605087 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11794169 UBOX5 U-box domain containing 5 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1605087 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11794169 UBOX5 U-box domain containing 5 gene DOID:630 genetic disease ISO RGD:1605087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794169 UBOX5 U-box domain containing 5 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1605087 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 11794182 ABCF1 ATP binding cassette subfamily F member 1 gene DOID:11372 megacolon ISO RGD:734018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11794182 ABCF1 ATP binding cassette subfamily F member 1 gene DOID:1205 allergic disease ISO RGD:734018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11794182 ABCF1 ATP binding cassette subfamily F member 1 gene DOID:2843 long QT syndrome ISO RGD:734018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11794182 ABCF1 ATP binding cassette subfamily F member 1 gene DOID:552 pneumonia ISO RGD:734018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11794182 ABCF1 ATP binding cassette subfamily F member 1 gene DOID:630 genetic disease ISO RGD:734018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794182 ABCF1 ATP binding cassette subfamily F member 1 gene DOID:9000918 Disease Progression ISO RGD:734018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 11794216 SALL3 spalt like transcription factor 3 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1321014 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11794216 SALL3 spalt like transcription factor 3 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1321014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 11794216 SALL3 spalt like transcription factor 3 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1321014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 11794216 SALL3 spalt like transcription factor 3 gene DOID:630 genetic disease ISO RGD:1321014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794216 SALL3 spalt like transcription factor 3 gene DOID:6420 pulmonary valve stenosis ISO RGD:1321014 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 11794216 SALL3 spalt like transcription factor 3 gene DOID:8445 intestinal volvulus ISO RGD:1321014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11794216 SALL3 spalt like transcription factor 3 gene DOID:8584 Burkitt lymphoma ISO RGD:1321014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 11794216 SALL3 spalt like transcription factor 3 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1321014 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 11794216 SALL3 spalt like transcription factor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11794216 SALL3 spalt like transcription factor 3 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1321014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11794216 SALL3 spalt like transcription factor 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1321014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15282310 11794216 SALL3 spalt like transcription factor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11794236 PRKAR2A protein kinase cAMP-dependent type II regulatory subunit alpha gene DOID:6000 congestive heart failure ISO RGD:732434 D RGD:9068941 20200609 RGD PMID:10830164|REF_RGD_ID:1580714 11794236 PRKAR2A protein kinase cAMP-dependent type II regulatory subunit alpha gene DOID:630 genetic disease ISO RGD:732434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794236 PRKAR2A protein kinase cAMP-dependent type II regulatory subunit alpha gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:732434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11794236 PRKAR2A protein kinase cAMP-dependent type II regulatory subunit alpha gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:732434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11794258 CD109 CD109 molecule gene DOID:630 genetic disease ISO RGD:1322663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794258 CD109 CD109 molecule gene DOID:9002189 High Myopia ISO RGD:1322663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11794258 CD109 CD109 molecule gene DOID:9008443 Colorectal Neoplasms ISO RGD:1322663 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 11794258 CD109 CD109 molecule gene DOID:9008939 Breast Neoplasms ISO RGD:1322663 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 11794296 IMMP1L inner mitochondrial membrane peptidase subunit 1 gene DOID:1059 intellectual disability ISO RGD:1601711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11794296 IMMP1L inner mitochondrial membrane peptidase subunit 1 gene DOID:12271 aniridia ISO RGD:1601711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 11794296 IMMP1L inner mitochondrial membrane peptidase subunit 1 gene DOID:3764 Denys-Drash syndrome ISO RGD:1601711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Drash syndrome PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28492532 11794296 IMMP1L inner mitochondrial membrane peptidase subunit 1 gene DOID:5419 schizophrenia ISO RGD:1601711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11794296 IMMP1L inner mitochondrial membrane peptidase subunit 1 gene DOID:630 genetic disease ISO RGD:1601711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794296 IMMP1L inner mitochondrial membrane peptidase subunit 1 gene DOID:9002455 Aniridia 1 ISO RGD:1601711 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aniridia 1 PMID:10737978|PMID:11284764|PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28231309|PMID:28492532 11794328 PTPRN2 protein tyrosine phosphatase receptor type N2 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1349626 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:23370340|PMID:24095820|PMID:28492532|PMID:29992659|PMID:31334757 11794328 PTPRN2 protein tyrosine phosphatase receptor type N2 gene DOID:10283 prostate cancer ISO RGD:1349626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11794328 PTPRN2 protein tyrosine phosphatase receptor type N2 gene DOID:11716 prediabetes syndrome ISO RGD:1349626 D RGD:9068941 20200609 RGD PMID:15004204|REF_RGD_ID:2311683 11794328 PTPRN2 protein tyrosine phosphatase receptor type N2 gene DOID:12849 autistic disorder ISO RGD:1349626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11794328 PTPRN2 protein tyrosine phosphatase receptor type N2 gene DOID:630 genetic disease ISO RGD:1349626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794328 PTPRN2 protein tyrosine phosphatase receptor type N2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1349626 D RGD:9068941 20200609 RGD PMID:18193190|REF_RGD_ID:2311682 11794328 PTPRN2 protein tyrosine phosphatase receptor type N2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:62197 D RGD:9068941 20200609 RGD PMID:12419281|REF_RGD_ID:2311684 11794328 PTPRN2 protein tyrosine phosphatase receptor type N2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:62197 D RGD:9068941 20220825 MouseDO OMIM:222100 11794358 TMBIM1 transmembrane BAX inhibitor motif containing 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1605964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11794358 TMBIM1 transmembrane BAX inhibitor motif containing 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1605964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11794358 TMBIM1 transmembrane BAX inhibitor motif containing 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1605964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11794358 TMBIM1 transmembrane BAX inhibitor motif containing 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1605964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11794358 TMBIM1 transmembrane BAX inhibitor motif containing 1 gene DOID:630 genetic disease ISO RGD:1605964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794358 TMBIM1 transmembrane BAX inhibitor motif containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11794358 TMBIM1 transmembrane BAX inhibitor motif containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11794388 ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:0050729 neutral lipid storage disease ISO RGD:1342875 D RGD:7240710 20180130 OMIM 11794388 ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:0050729 neutral lipid storage disease ISO RGD:1342875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis PMID:11590543|PMID:15136565|PMID:20022472|PMID:20520629|PMID:25741868|PMID:27025581|PMID:28492532|PMID:29130490|PMID:31883530|PMID:6181472 11794388 ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:0050729 neutral lipid storage disease ISO RGD:1342875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis PMID:11590543|PMID:15136565|PMID:20022472|PMID:20520629|PMID:22373837|PMID:25741868|PMID:27025581|PMID:28492532|PMID:29130490|PMID:31883530|PMID:6181472 11794388 ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:0060656 autosomal recessive congenital ichthyosis 1 susceptibility ISO RGD:1342875 D RGD:9068941 20200609 RGD PMID:11590543|REF_RGD_ID:1598668 11794388 ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1342875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 11794388 ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:234 colon adenocarcinoma ISO RGD:1342875 D RGD:9068941 20220721 RGD human cells in mouse model PMID:30842415|REF_RGD_ID:153002829 11794388 ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:234 colon adenocarcinoma disease_progression ISO RGD:1342875 D RGD:9068941 20220721 RGD mRNA:decreased expression:colon (human) PMID:30842415|REF_RGD_ID:153002829 11794388 ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:630 genetic disease ISO RGD:1342875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11794398 CEP15 centrosomal protein 15 gene DOID:630 genetic disease ISO RGD:1347639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794417 GON7 GON7 subunit of KEOPS complex gene DOID:0080054 achondrogenesis type IA ISO RGD:1346081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11794417 GON7 GON7 subunit of KEOPS complex gene DOID:0080694 Galloway-Mowat syndrome ISO RGD:1346081 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome PMID:25741868|PMID:31481669 11794417 GON7 GON7 subunit of KEOPS complex gene DOID:630 genetic disease ISO RGD:1346081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794417 GON7 GON7 subunit of KEOPS complex gene DOID:9001247 Galloway-Mowat Syndrome 9 ISO RGD:1346081 D RGD:7240710 20211201 OMIM 11794417 GON7 GON7 subunit of KEOPS complex gene DOID:9001247 Galloway-Mowat Syndrome 9 ISO RGD:1346081 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 9 PMID:25741868|PMID:31481669 11794417 GON7 GON7 subunit of KEOPS complex gene DOID:9003293 Li-Campeau Syndrome ISO RGD:1346081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Li-Campeau syndrome PMID:33340455 11794423 C8G complement C8 gamma chain gene DOID:0050777 Joubert syndrome ISO RGD:1319211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11794423 C8G complement C8 gamma chain gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1319211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11794423 C8G complement C8 gamma chain gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1319211 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11794423 C8G complement C8 gamma chain gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1319211 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11794423 C8G complement C8 gamma chain gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1319211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11794423 C8G complement C8 gamma chain gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1319211 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11794423 C8G complement C8 gamma chain gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1319211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 11794423 C8G complement C8 gamma chain gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1319211 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11794423 C8G complement C8 gamma chain gene DOID:0081097 Rafiq syndrome ISO RGD:1319211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11794423 C8G complement C8 gamma chain gene DOID:1826 epilepsy ISO RGD:1319211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11794423 C8G complement C8 gamma chain gene DOID:3652 Leigh disease ISO RGD:1319211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11794423 C8G complement C8 gamma chain gene DOID:630 genetic disease ISO RGD:1319211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794423 C8G complement C8 gamma chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11794423 C8G complement C8 gamma chain gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1319211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11794435 CNEP1R1 CTD nuclear envelope phosphatase 1 regulatory subunit 1 gene DOID:0111122 nephronophthisis 14 ISO RGD:1603875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 11794435 CNEP1R1 CTD nuclear envelope phosphatase 1 regulatory subunit 1 gene DOID:630 genetic disease ISO RGD:1603875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794447 CD164L2 CD164 molecule like 2 gene DOID:630 genetic disease ISO RGD:1603478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794468 ST6GALNAC5 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 gene DOID:630 genetic disease ISO RGD:1352256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794468 ST6GALNAC5 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 gene DOID:7148 rheumatoid arthritis ISO RGD:1352256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17379860|PMID:17568789 11794478 EIF3D eukaryotic translation initiation factor 3 subunit D gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1352969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11794478 EIF3D eukaryotic translation initiation factor 3 subunit D gene DOID:10591 pre-eclampsia ISO RGD:1352969 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:34520790 11794478 EIF3D eukaryotic translation initiation factor 3 subunit D gene DOID:630 genetic disease ISO RGD:1352969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794504 THAP4 THAP domain containing 4 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1342863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11794504 THAP4 THAP domain containing 4 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1342863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11794504 THAP4 THAP domain containing 4 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1342863 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11794504 THAP4 THAP domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1342863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11794504 THAP4 THAP domain containing 4 gene DOID:630 genetic disease ISO RGD:1342863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794504 THAP4 THAP domain containing 4 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1342863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11794513 PEAK1 pseudopodium enriched atypical kinase 1 gene DOID:2717 Bloom syndrome ISO RGD:7374592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11794513 PEAK1 pseudopodium enriched atypical kinase 1 gene DOID:5419 schizophrenia ISO RGD:7374592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11794513 PEAK1 pseudopodium enriched atypical kinase 1 gene DOID:630 genetic disease ISO RGD:7374592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794513 PEAK1 pseudopodium enriched atypical kinase 1 gene DOID:9256 colorectal cancer ISO RGD:7374592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11794526 CA9 carbonic anhydrase 9 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1315034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20526721 11794526 CA9 carbonic anhydrase 9 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1315034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11794526 CA9 carbonic anhydrase 9 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1315034 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11794526 CA9 carbonic anhydrase 9 gene DOID:0080365 endometrial hyperplasia ISO RGD:1315034 D RGD:9068941 20200609 RGD protein:altered localization:membrane, endometrium PMID:17452774|REF_RGD_ID:2298945 11794526 CA9 carbonic anhydrase 9 gene DOID:0080942 anauxetic dysplasia ISO RGD:1315034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11794526 CA9 carbonic anhydrase 9 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1315034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11794526 CA9 carbonic anhydrase 9 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1315034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11794526 CA9 carbonic anhydrase 9 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1315034 D RGD:9068941 20200609 RGD PMID:14520462|REF_RGD_ID:2293197 11794526 CA9 carbonic anhydrase 9 gene DOID:2043 hepatitis B disease_progression ISO RGD:1315034 D RGD:9068941 20210108 RGD DNA:SNP::rs2071676(human) PMID:32297155|REF_RGD_ID:40903057 11794526 CA9 carbonic anhydrase 9 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1315034 D RGD:9068941 20200609 RGD PMID:15069539|REF_RGD_ID:2298947 11794526 CA9 carbonic anhydrase 9 gene DOID:3459 breast carcinoma disease_progression ISO RGD:1315034 D RGD:9068941 20200609 RGD PMID:17245699|REF_RGD_ID:2293195 11794526 CA9 carbonic anhydrase 9 gene DOID:3883 Lynch syndrome ISO RGD:1315034 D RGD:9068941 20220916 RGD protein:increased expression:colorectum PMID:17855694|REF_RGD_ID:155226867 11794526 CA9 carbonic anhydrase 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1315034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30381462 11794526 CA9 carbonic anhydrase 9 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1315327 D RGD:9068941 20220916 RGD PMID:23910904|REF_RGD_ID:155226863 11794526 CA9 carbonic anhydrase 9 gene DOID:4450 renal cell carcinoma ISO RGD:1315034 D RGD:9068941 20200609 RGD PMID:12883698|REF_RGD_ID:2293199 11794526 CA9 carbonic anhydrase 9 gene DOID:4450 renal cell carcinoma ISO RGD:1315034 D RGD:9068941 20200609 RGD DNA, mRNA:hypomethylation, increased expression:promoter, kidney PMID:11506497|REF_RGD_ID:2293201 11794526 CA9 carbonic anhydrase 9 gene DOID:4450 renal cell carcinoma ISO RGD:1315034 D RGD:9068941 20200609 RGD protein:increased expression:serum, urine PMID:12966427|REF_RGD_ID:2293198 11794526 CA9 carbonic anhydrase 9 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1315034 D RGD:9068941 20200609 RGD PMID:18464292|REF_RGD_ID:2293191 11794526 CA9 carbonic anhydrase 9 gene DOID:630 genetic disease ISO RGD:1315034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794526 CA9 carbonic anhydrase 9 gene DOID:6432 pulmonary hypertension ISO RGD:1315034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20110409 11794526 CA9 carbonic anhydrase 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1315034 D RGD:9068941 20220916 RGD mRNA:altered expression:liver PMID:29900055|REF_RGD_ID:155226869 11794526 CA9 carbonic anhydrase 9 gene DOID:8552 chronic myeloid leukemia ISO RGD:1315034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17157168 11794526 CA9 carbonic anhydrase 9 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1315034 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms PMID:17233814|REF_RGD_ID:2293196 11794526 CA9 carbonic anhydrase 9 gene DOID:9000156 Metaplasia ISO RGD:1315034 D RGD:9068941 20200609 RGD protein:altered localization:membrane, endometrium PMID:17429140|REF_RGD_ID:2298946 11794526 CA9 carbonic anhydrase 9 gene DOID:9000784 Fibrosis ISO RGD:1315034 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;mRNA:increased expression:breast PMID:18483361|REF_RGD_ID:2293190 11794526 CA9 carbonic anhydrase 9 gene DOID:9002141 Anaplasia ISO RGD:1315034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19808899 11794526 CA9 carbonic anhydrase 9 gene DOID:9002669 Hypoxia ISO RGD:1315034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16954440 11794526 CA9 carbonic anhydrase 9 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1315034 D RGD:9068941 20200609 RGD PMID:12687273|REF_RGD_ID:2293200 11794526 CA9 carbonic anhydrase 9 gene DOID:9003373 Uterine Cervical Neoplasms treatment ISO RGD:1315034 D RGD:9068941 20200609 RGD PMID:17308115|REF_RGD_ID:2293193 11794526 CA9 carbonic anhydrase 9 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1315034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11794526 CA9 carbonic anhydrase 9 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1315034 D RGD:9068941 20200609 RGD protein:altered localization:membrane, endometrium PMID:17452774|REF_RGD_ID:2298945 11794526 CA9 carbonic anhydrase 9 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1306426 D RGD:9068941 20200609 RGD PMID:17280655|REF_RGD_ID:2293194 11794526 CA9 carbonic anhydrase 9 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1306426 D RGD:9068941 20200609 RGD associated with Anoxia;protein:increased expression:heart right ventricle PMID:16714773|REF_RGD_ID:2293204 11794526 CA9 carbonic anhydrase 9 gene DOID:9008138 Ductal Carcinoma ISO RGD:1315034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20526721 11794526 CA9 carbonic anhydrase 9 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1315034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11794526 CA9 carbonic anhydrase 9 gene DOID:9870 galactosemia ISO RGD:1315034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11794541 ADCYAP1R1 ADCYAP receptor type I gene DOID:1679 cystitis ISO RGD:2038 D RGD:9068941 20200609 RGD mRNA:increased expression:urothelium, detrusor muscle (rat) PMID:18563302|REF_RGD_ID:2315964 11794541 ADCYAP1R1 ADCYAP receptor type I gene DOID:2841 asthma ISO RGD:736792 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21059121 11794541 ADCYAP1R1 ADCYAP receptor type I gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11794541 ADCYAP1R1 ADCYAP receptor type I gene DOID:630 genetic disease ISO RGD:736792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794541 ADCYAP1R1 ADCYAP receptor type I gene DOID:9004009 Reperfusion Injury ISO RGD:2038 D RGD:9068941 20200609 RGD mRNA:decreased expression:dentate gyrus (rat) PMID:19647005|REF_RGD_ID:2315956 11794591 ABHD1 abhydrolase domain containing 1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1322201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11794591 ABHD1 abhydrolase domain containing 1 gene DOID:630 genetic disease ISO RGD:1322201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794613 INPP5D inositol polyphosphate-5-phosphatase D gene DOID:10652 Alzheimer's disease ISO RGD:1348251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30320580 11794613 INPP5D inositol polyphosphate-5-phosphatase D gene DOID:5408 Paget's disease of bone ISO RGD:1551628 D RGD:9068941 20220825 MouseDO OMIM:167250 | OMIM:602080 | OMIM:606263 11794613 INPP5D inositol polyphosphate-5-phosphatase D gene DOID:630 genetic disease ISO RGD:1348251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794613 INPP5D inositol polyphosphate-5-phosphatase D gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11794613 INPP5D inositol polyphosphate-5-phosphatase D gene DOID:9004009 Reperfusion Injury ISO RGD:1348251 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25780291 11794613 INPP5D inositol polyphosphate-5-phosphatase D gene DOID:9074 systemic lupus erythematosus ISO RGD:1551628 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 11794648 ACAT2 acetyl-CoA acetyltransferase 2 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1354229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 11794648 ACAT2 acetyl-CoA acetyltransferase 2 gene DOID:10787 premature menopause ISO RGD:1359366 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 11794648 ACAT2 acetyl-CoA acetyltransferase 2 gene DOID:14723 beta-ketothiolase deficiency ISO RGD:1354229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:25741868|PMID:31268215 11794648 ACAT2 acetyl-CoA acetyltransferase 2 gene DOID:2349 arteriosclerosis ISO RGD:1552173 D RGD:9068941 20200609 RGD PMID:16675724|REF_RGD_ID:1601111 11794648 ACAT2 acetyl-CoA acetyltransferase 2 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1354229 D RGD:9068941 20200609 RGD DNA:polymorphisms: :41A>G, 734C>T, IVS4-57_58ins48bp PMID:16195894|REF_RGD_ID:1601112 11794648 ACAT2 acetyl-CoA acetyltransferase 2 gene DOID:630 genetic disease ISO RGD:1354229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794648 ACAT2 acetyl-CoA acetyltransferase 2 gene DOID:9000808 Hypercholesterolemia ISO RGD:1552173 D RGD:9068941 20200609 RGD PMID:11100118|REF_RGD_ID:1556516 11794648 ACAT2 acetyl-CoA acetyltransferase 2 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:1354229 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:14557872|REF_RGD_ID:1581921 11794648 ACAT2 acetyl-CoA acetyltransferase 2 gene DOID:9007685 Cytosolic Acetoacetyl-CoA Thiolase Deficiency ISO RGD:1354229 D RGD:7240710 20180130 OMIM 11794648 ACAT2 acetyl-CoA acetyltransferase 2 gene DOID:9007685 Cytosolic Acetoacetyl-CoA Thiolase Deficiency ISO RGD:1354229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acetyl-CoA acetyltransferase-2 deficiency PMID:25741868 11794661 KIF16B kinesin family member 16B gene DOID:10283 prostate cancer ISO RGD:1320877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11794661 KIF16B kinesin family member 16B gene DOID:1059 intellectual disability ISO RGD:1320877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11794661 KIF16B kinesin family member 16B gene DOID:630 genetic disease ISO RGD:1320877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794661 KIF16B kinesin family member 16B gene DOID:767 muscular atrophy ISO RGD:1320877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular atrophy PMID:25741868 11794701 GATAD1 GATA zinc finger domain containing 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1605644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease PMID:10447258|PMID:11389485|PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:20952722|PMID:21031596|PMID:21846392|PMID:25525159|PMID:25741868|PMID:26319495|PMID:26387595|PMID:26467025|PMID:27124789|PMID:27302843|PMID:27353947|PMID:27848944|PMID:28446956|PMID:28492532|PMID:29419819|PMID:30561787|PMID:30733538|PMID:31374812|PMID:31831025|PMID:32203225|PMID:33083013|PMID:33708531|PMID:33955814|PMID:34513757|PMID:9398847|PMID:9398848|PMID:9536098 11794701 GATAD1 GATA zinc finger domain containing 1 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1605644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a PMID:11389485|PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:25326635|PMID:25525159|PMID:25741868|PMID:26319495|PMID:26387595|PMID:26467025|PMID:27124789|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:28446956|PMID:28492532|PMID:29261186|PMID:29419819|PMID:30561787|PMID:30733538|PMID:30755224|PMID:31374812|PMID:31831025|PMID:32203225|PMID:33083013|PMID:33708531|PMID:33955814|PMID:34513757|PMID:9398847|PMID:9398848|PMID:9536098 11794701 GATAD1 GATA zinc finger domain containing 1 gene DOID:0080623 Heimler syndrome 1 ISO RGD:1605644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C PMID:12402331|PMID:16086329|PMID:16088892|PMID:16141001|PMID:17576681|PMID:19105186|PMID:21031596|PMID:25525159|PMID:25741868|PMID:26387595|PMID:26467025|PMID:27302843|PMID:28492532|PMID:30733538|PMID:31374812|PMID:31831025|PMID:32203225|PMID:34513757|PMID:9398847|PMID:9536098 11794701 GATAD1 GATA zinc finger domain containing 1 gene DOID:0081240 peroxisome biogenesis disorder 1B ISO RGD:1605644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:20952722|PMID:21031596|PMID:21846392|PMID:25525159|PMID:25741868|PMID:26319495|PMID:26387595|PMID:26467025|PMID:27124789|PMID:27302843|PMID:27353947|PMID:27848944|PMID:28446956|PMID:28492532|PMID:29419819|PMID:30561787|PMID:30733538|PMID:31374812|PMID:31831025|PMID:32203225|PMID:33708531|PMID:33955814|PMID:34513757|PMID:9398847|PMID:9398848|PMID:9536098 11794701 GATAD1 GATA zinc finger domain containing 1 gene DOID:0110441 dilated cardiomyopathy 2B ISO RGD:1605644 D RGD:7240710 20180130 OMIM 11794701 GATAD1 GATA zinc finger domain containing 1 gene DOID:0110441 dilated cardiomyopathy 2B ISO RGD:1605644 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 2B PMID:17576681|PMID:21965549|PMID:24033266|PMID:25741868|PMID:27114410|PMID:28492532|PMID:30391667|PMID:9536098 11794701 GATAD1 GATA zinc finger domain containing 1 gene DOID:0111640 autosomal recessive nonsyndromic deafness 111 ISO RGD:1605644 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 111 PMID:12402331|PMID:16086329|PMID:16141001|PMID:19105186|PMID:21031596|PMID:25525159|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:9398847 11794701 GATAD1 GATA zinc finger domain containing 1 gene DOID:10907 microcephaly ISO RGD:1605644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11794701 GATAD1 GATA zinc finger domain containing 1 gene DOID:2843 long QT syndrome ISO RGD:1605644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11794701 GATAD1 GATA zinc finger domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11794701 GATAD1 GATA zinc finger domain containing 1 gene DOID:630 genetic disease ISO RGD:1605644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:19105186|PMID:21031596|PMID:25741868|PMID:26387595|PMID:27302843|PMID:28492532|PMID:30733538|PMID:31374812|PMID:31831025|PMID:32203225|PMID:34513757|PMID:9398847|PMID:9398848 11794701 GATAD1 GATA zinc finger domain containing 1 gene DOID:8501 fundus dystrophy ISO RGD:1605644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16086329|PMID:16141001|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:9398847 11794701 GATAD1 GATA zinc finger domain containing 1 gene DOID:9006420 Zellweger Leukodystrophy ISO RGD:1605644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:11389485|PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:25326635|PMID:25525159|PMID:25741868|PMID:26319495|PMID:26387595|PMID:26467025|PMID:27124789|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:28446956|PMID:28492532|PMID:29261186|PMID:29419819|PMID:30561787|PMID:30733538|PMID:30755224|PMID:31374812|PMID:31831025|PMID:32203225|PMID:33083013|PMID:33708531|PMID:33955814|PMID:34513757|PMID:9398847|PMID:9398848|PMID:9536098 11794701 GATAD1 GATA zinc finger domain containing 1 gene DOID:905 Zellweger syndrome ISO RGD:1605644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10447258|PMID:11389485|PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17576681|PMID:19105186|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:25326635|PMID:25525159|PMID:25741868|PMID:26387595|PMID:26467025|PMID:27124789|PMID:27353947|PMID:27469511|PMID:27848944|PMID:28492532|PMID:29261186|PMID:30561787|PMID:30755224|PMID:31628608|PMID:31831025|PMID:9398847|PMID:9398848|PMID:9536098 11794701 GATAD1 GATA zinc finger domain containing 1 gene DOID:905 Zellweger syndrome ISO RGD:1605644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10447258|PMID:11389485|PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:25326635|PMID:25525159|PMID:25741868|PMID:26319495|PMID:26387595|PMID:26467025|PMID:27124789|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:28446956|PMID:28492532|PMID:29261186|PMID:29419819|PMID:30561787|PMID:30733538|PMID:30755224|PMID:31374812|PMID:31628608|PMID:31831025|PMID:32203225|PMID:33083013|PMID:33708531|PMID:33955814|PMID:34513757|PMID:9398847|PMID:9398848|PMID:9536098 11794717 RNF20 ring finger protein 20 gene DOID:1059 intellectual disability ISO RGD:1323649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities 11794717 RNF20 ring finger protein 20 gene DOID:1612 breast cancer ISO RGD:1323649 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:18832071|REF_RGD_ID:9831404 11794717 RNF20 ring finger protein 20 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:1323649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:18541450|PMID:28492532 11794717 RNF20 ring finger protein 20 gene DOID:630 genetic disease ISO RGD:1323649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794717 RNF20 ring finger protein 20 gene DOID:9007964 Arsenic Poisoning ISO RGD:1323649 D RGD:9068941 20200609 RGD protein:increased expression:urine (human) PMID:21136906|REF_RGD_ID:9831407 11794717 RNF20 ring finger protein 20 gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:1323649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose intolerance PMID:18541450|PMID:28492532 11794717 RNF20 ring finger protein 20 gene DOID:9953 acute biphenotypic leukemia disease_progression ISO RGD:1323650 D RGD:9068941 20200609 RGD PMID:23412334|REF_RGD_ID:9831405 11794745 PSMB7 proteasome 20S subunit beta 7 gene DOID:0060224 atrial fibrillation ISO RGD:732115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 11794745 PSMB7 proteasome 20S subunit beta 7 gene DOID:0080600 COVID-19 ISO RGD:732115 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11794745 PSMB7 proteasome 20S subunit beta 7 gene DOID:630 genetic disease ISO RGD:732115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794775 ZNF140 zinc finger protein 140 gene DOID:630 genetic disease ISO RGD:1351095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794775 ZNF140 zinc finger protein 140 gene DOID:9256 colorectal cancer ISO RGD:1351095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:23230001|PMID:25948378|PMID:28492532|PMID:30503519 11794784 UCN2 urocortin 2 gene DOID:0060180 colitis ISO RGD:620765 D RGD:9068941 20200609 RGD mRNA:increased expression:colon (rat) PMID:17586086|REF_RGD_ID:5131259 11794784 UCN2 urocortin 2 gene DOID:10763 hypertension ISO RGD:1348669 D RGD:9068941 20200609 RGD human protein in rat model PMID:19204182|REF_RGD_ID:5508437 11794784 UCN2 urocortin 2 gene DOID:1936 atherosclerosis ISO RGD:1348669 D RGD:9068941 20200609 RGD protein:increased expression:coronary artery, endothelium (human) PMID:16026900|REF_RGD_ID:5508308 11794784 UCN2 urocortin 2 gene DOID:6000 congestive heart failure ISO RGD:1348669 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16330704 11794784 UCN2 urocortin 2 gene DOID:6000 congestive heart failure ISO RGD:1348669 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium (human) PMID:12076554|REF_RGD_ID:5508210 11794784 UCN2 urocortin 2 gene DOID:630 genetic disease ISO RGD:1348669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794784 UCN2 urocortin 2 gene DOID:9001109 Anorexia ISO RGD:1348669 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17627984 11794784 UCN2 urocortin 2 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1348669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11794784 UCN2 urocortin 2 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1348669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11794814 EML4 EMAP like 4 gene DOID:3883 Lynch syndrome ISO RGD:1351948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11794814 EML4 EMAP like 4 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1351948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17625570|PMID:21757253|PMID:21767331|PMID:22568572|PMID:22617245|PMID:22986231 11794814 EML4 EMAP like 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1351948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22980554|PMID:22999080 11794814 EML4 EMAP like 4 gene DOID:630 genetic disease ISO RGD:1351948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794814 EML4 EMAP like 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1351948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22986231|PMID:22999080 11794814 EML4 EMAP like 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11794814 EML4 EMAP like 4 gene DOID:9007502 Brain Neoplasms ISO RGD:1351948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22986231 11794850 SGSM3 small G protein signaling modulator 3 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1353613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11794850 SGSM3 small G protein signaling modulator 3 gene DOID:630 genetic disease ISO RGD:1353613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794895 GSPT2 G1 to S phase transition 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11794895 GSPT2 G1 to S phase transition 2 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1354196 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 11794895 GSPT2 G1 to S phase transition 2 gene DOID:12849 autistic disorder ISO RGD:1354196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11794895 GSPT2 G1 to S phase transition 2 gene DOID:630 genetic disease ISO RGD:1354196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794900 TMEM222 transmembrane protein 222 gene DOID:630 genetic disease ISO RGD:1604776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794900 TMEM222 transmembrane protein 222 gene DOID:9002095 NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES ISO RGD:1604776 D RGD:7240710 20211027 OMIM 11794900 TMEM222 transmembrane protein 222 gene DOID:9002095 NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES ISO RGD:1604776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities PMID:33824500 11794927 LRRC2 leucine rich repeat containing 2 gene DOID:630 genetic disease ISO RGD:1323318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794927 LRRC2 leucine rich repeat containing 2 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1323318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11794940 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1350002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25326635|PMID:25741868|PMID:28492532 11794940 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:0112068 nuclear type mitochondrial complex I deficiency 5 ISO RGD:1350002 D RGD:7240710 20190315 OMIM 11794940 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:0112068 nuclear type mitochondrial complex I deficiency 5 ISO RGD:1350002 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 PMID:11349233|PMID:15824269|PMID:19167255|PMID:20382551|PMID:20819849|PMID:21203893|PMID:21458341|PMID:22200994|PMID:25741868|PMID:28492532 11794940 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1350002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 11794940 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:11372 megacolon ISO RGD:1350002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11794940 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1350002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9527842 11794940 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:14330 Parkinson's disease onset ISO RGD:1551403 D RGD:9068941 20200609 RGD protein:increased oxidation:brain, mitochondrion (mouse) PMID:21196577|REF_RGD_ID:6484690 11794940 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1350002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11794940 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:1485 cystic fibrosis ISO RGD:1551403 D RGD:9068941 20200609 RGD protein:increased oxidation:colonic epithelium, mitochondrion (mouse) PMID:21518732|REF_RGD_ID:6484688 11794940 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:3652 Leigh disease ISO RGD:1350002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:25741868|PMID:28492532 11794940 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:3687 MELAS syndrome ISO RGD:1350002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke PMID:22499341 11794940 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:630 genetic disease ISO RGD:1350002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11794940 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:655 inherited metabolic disorder ISO RGD:1350002 D RGD:9068941 20200609 RGD mitochondrial complex I deficiency, OMIM:252010, deletion:664delCAT, point mutation:D252G PMID:11349233|REF_RGD_ID:1556706 11794940 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1350002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11794940 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1350002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:28492532 11794940 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:9000918 Disease Progression ISO RGD:1350002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11794940 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11794940 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:1359670 D RGD:9068941 20200609 RGD PMID:21700931|REF_RGD_ID:13801200 11794964 GMDS GDP-mannose 4,6-dehydratase gene DOID:1067 open-angle glaucoma susceptibility ISO RGD:1322234 D RGD:9068941 20200609 RGD DNA:SNPs: :rs11969985,rs2761233(human) PMID:25173105|REF_RGD_ID:13673886 11794964 GMDS GDP-mannose 4,6-dehydratase gene DOID:12271 aniridia ISO RGD:1322234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 11794964 GMDS GDP-mannose 4,6-dehydratase gene DOID:630 genetic disease ISO RGD:1322234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11794980 TCN1 transcobalamin 1 gene DOID:0080600 COVID-19 ISO RGD:1349641 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11794980 TCN1 transcobalamin 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1349641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11794980 TCN1 transcobalamin 1 gene DOID:1059 intellectual disability ISO RGD:1349641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11794980 TCN1 transcobalamin 1 gene DOID:13382 megaloblastic anemia ISO RGD:1349641 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4627864 11794980 TCN1 transcobalamin 1 gene DOID:630 genetic disease ISO RGD:1349641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11794980 TCN1 transcobalamin 1 gene DOID:9003283 Transcobalamin I Deficiency ISO RGD:1349641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transcobalamin I deficiency PMID:17576681|PMID:19686235|PMID:25640679|PMID:28492532|PMID:9536098 11794993 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy 11794993 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:0050451 Brugada syndrome ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:25637381|PMID:25741868|PMID:28341588|PMID:28492532 11794993 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:0050700 cardiomyopathy ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:23623143|PMID:23861362|PMID:25145518|PMID:25145519|PMID:25642760|PMID:25741868|PMID:26467025|PMID:27173043|PMID:27182706|PMID:27659478|PMID:28104484|PMID:28182231|PMID:28254189|PMID:28341588|PMID:28492532 11794993 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:0060224 atrial fibrillation ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:23861362|PMID:25145518|PMID:25145519|PMID:25642760|PMID:25741868|PMID:26467025|PMID:27173043|PMID:27659478|PMID:28104484|PMID:28182231|PMID:28254189|PMID:28492532 11794993 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:0060296 congenital secretory chloride diarrhea 1 ISO RGD:737126 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE PMID:25741868|PMID:28492532 11794993 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:0060319 cardiac arrest ISO RGD:737126 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:25741868|PMID:28492532 11794993 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:0060480 left ventricular noncompaction ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:23861362|PMID:25145518|PMID:25145519|PMID:25642760|PMID:25741868|PMID:26467025|PMID:27173043|PMID:27659478|PMID:28104484|PMID:28182231|PMID:28254189|PMID:28492532 11794993 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:0110225 Brugada syndrome 8 ISO RGD:737126 D RGD:7240710 20180130 OMIM 11794993 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:0110225 Brugada syndrome 8 ISO RGD:737126 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:12750403|PMID:15123648|PMID:16199547|PMID:17576681|PMID:17646576|PMID:19165230|PMID:19748888|PMID:20662977|PMID:20693575|PMID:21615589|PMID:22840528|PMID:23075627|PMID:23178648|PMID:23623143|PMID:23631727|PMID:23861362|PMID:24033266|PMID:24492017|PMID:24569893|PMID:24607718|PMID:25145517|PMID:25145518|PMID:25145519|PMID:25467552|PMID:25642760|PMID:25741868|PMID:25865493|PMID:26206080|PMID:26383259|PMID:26467025|PMID:26688388|PMID:26704558|PMID:27173043|PMID:27182706|PMID:27439367|PMID:27553229|PMID:27659478|PMID:27930701|PMID:28086167|PMID:28104484|PMID:28182231|PMID:28204831|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28341588|PMID:28350118|PMID:28492532|PMID:28750076|PMID:28803248|PMID:28855170|PMID:29032884|PMID:29247119|PMID:29255176|PMID:29447731|PMID:30196304|PMID:30391667|PMID:30452770|PMID:30471092|PMID:30578647|PMID:30662450|PMID:30821013|PMID:30847666|PMID:30975432|PMID:30986657|PMID:31043699|PMID:31731876|PMID:31737537|PMID:32577394|PMID:32600061|PMID:32659924|PMID:33008772|PMID:33082984|PMID:33500567|PMID:33587123|PMID:34088380|PMID:9536098 11794993 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:737126 D RGD:9068941 20200609 RGD PMID:22683190|REF_RGD_ID:9693691 11794993 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737126 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25145518|PMID:25145519|PMID:25642760|PMID:25741868|PMID:26467025|PMID:27173043|PMID:27659478|PMID:28104484|PMID:28182231|PMID:28254189|PMID:28492532|PMID:28803248|PMID:29255176 11794993 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28341588|PMID:28492532 11794993 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:737126 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11794993 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:2717 Bloom syndrome ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11794993 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:2843 long QT syndrome ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:26467025|PMID:28492532 11794993 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:3320 Tay-Sachs disease ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 11794993 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:5419 schizophrenia ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11794993 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:6000 congestive heart failure ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:25741868|PMID:28492532 11794993 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:630 genetic disease ISO RGD:737126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11794993 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:737126 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:28492532|PMID:32659924 11794993 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:737126 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:17646576|PMID:20662977|PMID:24569893|PMID:25741868|PMID:26688388|PMID:28492532|PMID:28803248|PMID:28807990|PMID:28855170|PMID:32600061|PMID:33082984|PMID:34540771 11794993 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:9002486 Idiopathic Generalized Epilepsy 18 ISO RGD:737126 D RGD:7240710 20230505 OMIM 11794993 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:9002486 Idiopathic Generalized Epilepsy 18 ISO RGD:737126 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 18 PMID:23623143|PMID:24033266|PMID:24607718|PMID:25642760|PMID:25741868|PMID:26467025|PMID:27182706|PMID:28254189|PMID:28341588|PMID:28492532|PMID:28803248|PMID:29255176|PMID:30196304|PMID:30452770 11794993 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:25741868|PMID:28341588|PMID:28492532 11794993 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:9003749 Sick Sinus Syndrome 2, Autosomal Dominant ISO RGD:737126 D RGD:7240710 20180130 OMIM 11794993 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:9003749 Sick Sinus Syndrome 2, Autosomal Dominant ISO RGD:737126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome 2, autosomal dominant PMID:12750403|PMID:15123648|PMID:16407510|PMID:17576681|PMID:17646576|PMID:19748888|PMID:20662977|PMID:20693575|PMID:21615589|PMID:23075627|PMID:23623143|PMID:23631727|PMID:23861362|PMID:24033266|PMID:24492017|PMID:24569893|PMID:24607718|PMID:25145517|PMID:25145518|PMID:25145519|PMID:25467552|PMID:25642760|PMID:25741868|PMID:26206080|PMID:26467025|PMID:26688388|PMID:27173043|PMID:27182706|PMID:27439367|PMID:27553229|PMID:27659478|PMID:27930701|PMID:28086167|PMID:28104484|PMID:28182231|PMID:28204831|PMID:28254188|PMID:28254189|PMID:28341588|PMID:28350118|PMID:28492532|PMID:28803248|PMID:29255176|PMID:29447731|PMID:30196304|PMID:30452770|PMID:30471092|PMID:30847666|PMID:31043699|PMID:33500567|PMID:9536098 11794993 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:71065 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:myocyte: PMID:19471099|REF_RGD_ID:9693689 11794993 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:9005141 Ventricular Tachycardia ISO RGD:737126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:17576681|PMID:19165230|PMID:23861362|PMID:25145518|PMID:25145519|PMID:25642760|PMID:25741868|PMID:26467025|PMID:27173043|PMID:27659478|PMID:28104484|PMID:28182231|PMID:28254189|PMID:28492532|PMID:30986657|PMID:9536098 11794993 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:9007925 Sudden Cardiac Death ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:21615589|PMID:23623143|PMID:23861362|PMID:24033266|PMID:24569893|PMID:25145517|PMID:25467552|PMID:25642760|PMID:25741868|PMID:26467025|PMID:28492532 11794993 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:9256 colorectal cancer ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11795005 WNK4 WNK lysine deficient protein kinase 4 gene DOID:0050450 Gitelman syndrome ISO RGD:1557765 D RGD:9068941 20220825 MouseDO OMIM:263800 11795005 WNK4 WNK lysine deficient protein kinase 4 gene DOID:10763 hypertension ISO RGD:1353270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22949526 11795005 WNK4 WNK lysine deficient protein kinase 4 gene DOID:10763 hypertension ISO RGD:1353270 D RGD:9068941 20200609 RGD PMID:15110905|REF_RGD_ID:1580830 11795005 WNK4 WNK lysine deficient protein kinase 4 gene DOID:10763 hypertension no_association ISO RGD:631401 D RGD:9068941 20200609 RGD PMID:12642508|REF_RGD_ID:629611 11795005 WNK4 WNK lysine deficient protein kinase 4 gene DOID:224 transient cerebral ischemia ISO RGD:631401 D RGD:9068941 20200609 RGD PMID:27798271|REF_RGD_ID:14398833 11795005 WNK4 WNK lysine deficient protein kinase 4 gene DOID:4479 pseudohypoaldosteronism ISO RGD:1353270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperpotassemia and hypertension familial 11795005 WNK4 WNK lysine deficient protein kinase 4 gene DOID:630 genetic disease ISO RGD:1353270 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28915228 11795005 WNK4 WNK lysine deficient protein kinase 4 gene DOID:9002890 Pseudohypoaldosteronism, Type IIA ISO RGD:1353270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome 11795005 WNK4 WNK lysine deficient protein kinase 4 gene DOID:9006551 Pseudohypoaldosteronism, Type IIB ISO RGD:1353270 D RGD:7240710 20180130 OMIM 11795005 WNK4 WNK lysine deficient protein kinase 4 gene DOID:9006551 Pseudohypoaldosteronism, Type IIB ISO RGD:1353270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2B PMID:11498583|PMID:12107233|PMID:15110905|PMID:15292344|PMID:18547946|PMID:21236712|PMID:25741868|PMID:25741916|PMID:28492532|PMID:30773290|PMID:718348|PMID:9171836 11795028 XPO5 exportin 5 gene DOID:0050444 infantile Refsum disease ISO RGD:1323025 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11795028 XPO5 exportin 5 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1323025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26878725 11795028 XPO5 exportin 5 gene DOID:12858 Huntington's disease ISO RGD:1323026 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum (mouse) PMID:21035445|REF_RGD_ID:11041745 11795028 XPO5 exportin 5 gene DOID:1612 breast cancer susceptibility ISO RGD:1323025 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.S241N, p.M1115T (rs34324334, rs11544382) (human) PMID:21552306|REF_RGD_ID:11041726 11795028 XPO5 exportin 5 gene DOID:1793 pancreatic cancer ISO RGD:1323026 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreas (mouse) PMID:26516699|REF_RGD_ID:11041739 11795028 XPO5 exportin 5 gene DOID:2154 nephroblastoma ISO RGD:1323025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 11795028 XPO5 exportin 5 gene DOID:2671 transitional cell carcinoma severity ISO RGD:1323025 D RGD:9068941 20200609 RGD mRNA:increased expression:urothelium (human) PMID:22766726|REF_RGD_ID:11041723 11795028 XPO5 exportin 5 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1323025 D RGD:9068941 20200609 RGD DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human) PMID:21799879|REF_RGD_ID:11041736 11795028 XPO5 exportin 5 gene DOID:5409 lung small cell carcinoma severity ISO RGD:1323025 D RGD:9068941 20200609 RGD DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human) PMID:24648983|REF_RGD_ID:11041738 11795028 XPO5 exportin 5 gene DOID:5426 primary ovarian insufficiency susceptibility ISO RGD:1323025 D RGD:9068941 20200609 RGD DNA:snps, haplotype:exon, 3' utr:c.3303C>T, c.*659A>C (rs2257082, rs11077) (human) PMID:23549446|REF_RGD_ID:11041728 11795028 XPO5 exportin 5 gene DOID:630 genetic disease ISO RGD:1323025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11795028 XPO5 exportin 5 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1323025 D RGD:9068941 20200609 RGD DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human) PMID:24676133|REF_RGD_ID:11041737 11795028 XPO5 exportin 5 gene DOID:9000027 Microsatellite Instability ISO RGD:1323025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 11795028 XPO5 exportin 5 gene DOID:9008914 Lead Poisoning ISO RGD:1323025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28042866 11795028 XPO5 exportin 5 gene DOID:905 Zellweger syndrome ISO RGD:1323025 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11795028 XPO5 exportin 5 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1323025 D RGD:9068941 20200609 RGD DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human) PMID:26147304|REF_RGD_ID:11041733 11795028 XPO5 exportin 5 gene DOID:9538 multiple myeloma severity ISO RGD:1323025 D RGD:9068941 20200609 RGD DNA:snp:3' utr:c.*659A>C (rs11077) (human) PMID:22539802|REF_RGD_ID:11041735 11795064 KLHL9 kelch like family member 9 gene DOID:5419 schizophrenia ISO RGD:1347061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11795064 KLHL9 kelch like family member 9 gene DOID:630 genetic disease ISO RGD:1347061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11795070 FIS1 fission, mitochondrial 1 gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:1315413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 11795070 FIS1 fission, mitochondrial 1 gene DOID:10652 Alzheimer's disease ISO RGD:1315413 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (human) PMID:19605646|REF_RGD_ID:7800727 11795070 FIS1 fission, mitochondrial 1 gene DOID:13711 dental fluorosis ISO RGD:1306668 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (rat) PMID:24958380|REF_RGD_ID:12437081 11795070 FIS1 fission, mitochondrial 1 gene DOID:3021 acute kidney failure ISO RGD:1306668 D RGD:9068941 20200609 RGD protein:decreased expression:kidney (rat) PMID:26480480|REF_RGD_ID:12910862 11795070 FIS1 fission, mitochondrial 1 gene DOID:4483 rhinitis ISO RGD:1306668 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:nasal cavity mucosa (rat) PMID:28146064|REF_RGD_ID:13204839 11795070 FIS1 fission, mitochondrial 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11795070 FIS1 fission, mitochondrial 1 gene DOID:5844 myocardial infarction ISO RGD:1306668 D RGD:9068941 20200609 RGD protein:increased expression:plantaris (rat) PMID:24427319|REF_RGD_ID:11557988 11795070 FIS1 fission, mitochondrial 1 gene DOID:630 genetic disease ISO RGD:1315413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11795070 FIS1 fission, mitochondrial 1 gene DOID:784 chronic kidney disease treatment ISO RGD:1306668 D RGD:9068941 20200609 RGD PMID:27801955|REF_RGD_ID:12738369 11795070 FIS1 fission, mitochondrial 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1306668 D RGD:9068941 20200609 RGD PMID:26079325|REF_RGD_ID:12437066 11795070 FIS1 fission, mitochondrial 1 gene DOID:9000310 Lung Injury ISO RGD:1306668 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:25560372|REF_RGD_ID:12437080 11795070 FIS1 fission, mitochondrial 1 gene DOID:9001553 Spinal Cord Compression treatment ISO RGD:1306668 D RGD:9068941 20200609 RGD PMID:25595990|REF_RGD_ID:12437079 11795070 FIS1 fission, mitochondrial 1 gene DOID:9005526 Pulmonary Edema of Mountaineers ISO RGD:1306668 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:23517027|REF_RGD_ID:12738217 11795070 FIS1 fission, mitochondrial 1 gene DOID:9007174 Ventricular Remodeling ISO RGD:1315413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20886221 11795070 FIS1 fission, mitochondrial 1 gene DOID:9007588 Heart Injuries ISO RGD:1306668 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart (rat) PMID:25677476|REF_RGD_ID:12437078 11795070 FIS1 fission, mitochondrial 1 gene DOID:9007692 Insulin Resistance ISO RGD:1306668 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:24663492|REF_RGD_ID:12453042 11795070 FIS1 fission, mitochondrial 1 gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:1315414 D RGD:9068941 20230429 RGD PMID:30259997|REF_RGD_ID:329337366 11795070 FIS1 fission, mitochondrial 1 gene DOID:9008824 Sarcopenia ISO RGD:1306668 D RGD:9068941 20200609 RGD protein:increased expression:extensor digitorum longus (rat) PMID:23220115|REF_RGD_ID:12738219 11795070 FIS1 fission, mitochondrial 1 gene DOID:9452 fatty liver disease ISO RGD:1306668 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:24663492|REF_RGD_ID:12453042 11795083 MKX mohawk homeobox gene DOID:630 genetic disease ISO RGD:1313806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11795083 MKX mohawk homeobox gene DOID:9003295 Heterotopic Ossification ISO RGD:1305652 D RGD:9068941 20210416 RGD compared to Wistar PMID:27370800|REF_RGD_ID:40924660 11795094 MPZL1 myelin protein zero like 1 gene DOID:0111942 immunodeficiency 25 ISO RGD:1343477 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 11795094 MPZL1 myelin protein zero like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1343477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11795094 MPZL1 myelin protein zero like 1 gene DOID:305 carcinoma ISO RGD:1343477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11795094 MPZL1 myelin protein zero like 1 gene DOID:630 genetic disease ISO RGD:1343477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11795094 MPZL1 myelin protein zero like 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1343477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11795094 MPZL1 myelin protein zero like 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1343477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11795094 MPZL1 myelin protein zero like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11795112 MRPS15 mitochondrial ribosomal protein S15 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1347502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11795112 MRPS15 mitochondrial ribosomal protein S15 gene DOID:630 genetic disease ISO RGD:1347502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11795132 SNAP91 synaptosome associated protein 91 gene DOID:0111953 immunodeficiency 23 ISO RGD:731271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 23 PMID:24931394 11795132 SNAP91 synaptosome associated protein 91 gene DOID:10652 Alzheimer's disease ISO RGD:731271 D RGD:9068941 20200609 RGD protein:decreased expression:dentate gyrus molecular layer,hippocampus,entorhinal, tempocampal corteces: PMID:20847448|REF_RGD_ID:13506238 11795132 SNAP91 synaptosome associated protein 91 gene DOID:10652 Alzheimer's disease ISO RGD:735275 D RGD:9068941 20200609 RGD denntate gyrus, hippocampus, entorhinal cortex PMID:20847448|REF_RGD_ID:13506238 11795132 SNAP91 synaptosome associated protein 91 gene DOID:3525 middle cerebral artery infarction ISO RGD:69276 D RGD:9068941 20200609 RGD protein:increased degradation:brain PMID:19240038|REF_RGD_ID:13461853 11795132 SNAP91 synaptosome associated protein 91 gene DOID:630 genetic disease ISO RGD:731271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11795179 SFPQ splicing factor proline and glutamine rich gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1343285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11795179 SFPQ splicing factor proline and glutamine rich gene DOID:37 skin disease ISO RGD:1343285 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11795179 SFPQ splicing factor proline and glutamine rich gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1343285 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11795179 SFPQ splicing factor proline and glutamine rich gene DOID:630 genetic disease ISO RGD:1343285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11795179 SFPQ splicing factor proline and glutamine rich gene DOID:9007964 Arsenic Poisoning ISO RGD:1343285 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11795194 ZNF572 zinc finger protein 572 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1353007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11795194 ZNF572 zinc finger protein 572 gene DOID:630 genetic disease ISO RGD:1353007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11795201 LSM4 LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:1936 atherosclerosis ISO RGD:1315632 D RGD:9068941 20230128 RGD associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) PMID:33381146|REF_RGD_ID:155882464 11795201 LSM4 LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:630 genetic disease ISO RGD:1315632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11795201 LSM4 LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1315632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11795210 ATP9B ATPase phospholipid transporting 9B (putative) gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1353015 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11795210 ATP9B ATPase phospholipid transporting 9B (putative) gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1353015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 11795210 ATP9B ATPase phospholipid transporting 9B (putative) gene DOID:630 genetic disease ISO RGD:1353015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11795210 ATP9B ATPase phospholipid transporting 9B (putative) gene DOID:6420 pulmonary valve stenosis ISO RGD:1353015 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 11795210 ATP9B ATPase phospholipid transporting 9B (putative) gene DOID:8445 intestinal volvulus ISO RGD:1353015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11795210 ATP9B ATPase phospholipid transporting 9B (putative) gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1353015 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 11795210 ATP9B ATPase phospholipid transporting 9B (putative) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11795210 ATP9B ATPase phospholipid transporting 9B (putative) gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1353015 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 11795210 ATP9B ATPase phospholipid transporting 9B (putative) gene DOID:9008419 Volvulus Of Midgut ISO RGD:1353015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11795246 DHX9 DExH-box helicase 9 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1318384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 11795246 DHX9 DExH-box helicase 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1318384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11795246 DHX9 DExH-box helicase 9 gene DOID:630 genetic disease ISO RGD:1318384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11795246 DHX9 DExH-box helicase 9 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1318384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11795246 DHX9 DExH-box helicase 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11795283 FBLN1 fibulin 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1318572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11795283 FBLN1 fibulin 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1318572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 11795283 FBLN1 fibulin 1 gene DOID:1059 intellectual disability ISO RGD:1318572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11795283 FBLN1 fibulin 1 gene DOID:289 endometriosis ISO RGD:1318572 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11795283 FBLN1 fibulin 1 gene DOID:630 genetic disease ISO RGD:1318572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11795283 FBLN1 fibulin 1 gene DOID:9001994 Synpolydactyly 2 ISO RGD:1318572 D RGD:7240710 20180130 OMIM 11795283 FBLN1 fibulin 1 gene DOID:9001994 Synpolydactyly 2 ISO RGD:1318572 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES PMID:25741868|PMID:28492532 11795283 FBLN1 fibulin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318572 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17929269 11795283 FBLN1 fibulin 1 gene DOID:9004662 Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects ISO RGD:1318572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects PMID:24084572 11795309 ALG6 ALG6 alpha-1,3-glucosyltransferase gene DOID:0080415 developmental and epileptic encephalopathy 23 ISO RGD:1318803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 PMID:28492532 11795309 ALG6 ALG6 alpha-1,3-glucosyltransferase gene DOID:0080555 congenital disorder of glycosylation Ic ISO RGD:1318803 D RGD:7240710 20180130 OMIM 11795309 ALG6 ALG6 alpha-1,3-glucosyltransferase gene DOID:0080555 congenital disorder of glycosylation Ic ISO RGD:1318803 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE V | ClinVar Annotator: match by term: CDG Ic | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1C | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ic PMID:10359825|PMID:10852543|PMID:10914684|PMID:10924277|PMID:11106564|PMID:11558905|PMID:12855228|PMID:14517965|PMID:15771971|PMID:16007612|PMID:16199547|PMID:16321363|PMID:17576681|PMID:18414213|PMID:19862844|PMID:20398363|PMID:20447155|PMID:21334936|PMID:21899441|PMID:23044053|PMID:23430515|PMID:25640679|PMID:25741868|PMID:26117549|PMID:26453362|PMID:27287710|PMID:27959697|PMID:28139241|PMID:28492532|PMID:31117816|PMID:32398770|PMID:35279850|PMID:9536098 11795309 ALG6 ALG6 alpha-1,3-glucosyltransferase gene DOID:1059 intellectual disability ISO RGD:1318803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11795309 ALG6 ALG6 alpha-1,3-glucosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1318803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 11795309 ALG6 ALG6 alpha-1,3-glucosyltransferase gene DOID:630 genetic disease ISO RGD:1318803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11795328 NCAPD3 non-SMC condensin II complex subunit D3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1603696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11795328 NCAPD3 non-SMC condensin II complex subunit D3 gene DOID:1059 intellectual disability ISO RGD:1603696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11795328 NCAPD3 non-SMC condensin II complex subunit D3 gene DOID:5419 schizophrenia ISO RGD:1603696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11795328 NCAPD3 non-SMC condensin II complex subunit D3 gene DOID:630 genetic disease ISO RGD:1603696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11795328 NCAPD3 non-SMC condensin II complex subunit D3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11795328 NCAPD3 non-SMC condensin II complex subunit D3 gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1603696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:16857760|PMID:21109224|PMID:23255084|PMID:28492532 11795328 NCAPD3 non-SMC condensin II complex subunit D3 gene DOID:9009172 Primary Autosomal Recessive Microcephaly 22 ISO RGD:1603696 D RGD:7240710 20190315 OMIM 11795328 NCAPD3 non-SMC condensin II complex subunit D3 gene DOID:9009172 Primary Autosomal Recessive Microcephaly 22 ISO RGD:1603696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 22, primary, autosomal recessive PMID:25741868|PMID:27737959 11795368 LOC100983047 olfactory receptor 4K13 gene DOID:630 genetic disease ISO RGD:1351116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11795371 MYPN myopalladin gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1318320 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:28492532|PMID:29016939|PMID:31983221 11795371 MYPN myopalladin gene DOID:0050700 cardiomyopathy ISO RGD:1318320 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:18006477|PMID:20801532|PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27884173|PMID:27896284|PMID:28492532 11795371 MYPN myopalladin gene DOID:0060224 atrial fibrillation ISO RGD:1318320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 11795371 MYPN myopalladin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1318320 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:18006477|PMID:25741868|PMID:26084686|PMID:28492532|PMID:28798025|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32880476 11795371 MYPN myopalladin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1318320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:26084686|PMID:28492532|PMID:28798025|PMID:30847666 11795371 MYPN myopalladin gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1318320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:24033266|PMID:25741868|PMID:28492532 11795371 MYPN myopalladin gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1318320 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:24033266|PMID:25741868|PMID:28492532 11795371 MYPN myopalladin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1318320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:22286171|PMID:23299917|PMID:24033266|PMID:25741868|PMID:28492532 11795371 MYPN myopalladin gene DOID:0110445 dilated cardiomyopathy 1KK ISO RGD:1318320 D RGD:7240710 20180130 OMIM 11795371 MYPN myopalladin gene DOID:0110445 dilated cardiomyopathy 1KK ISO RGD:1318320 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 4 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 22 PMID:16199547|PMID:17576681|PMID:18006477|PMID:20801532|PMID:22286171|PMID:22337857|PMID:22892539|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24558114|PMID:25163546|PMID:25448463|PMID:25640679|PMID:25741868|PMID:26084686|PMID:26350513|PMID:26383716|PMID:26458567|PMID:26498160|PMID:26899768|PMID:27532257|PMID:27662471|PMID:27884173|PMID:27896284|PMID:28017374|PMID:28087566|PMID:28416588|PMID:28427417|PMID:28492532|PMID:28611029|PMID:28798025|PMID:28831623|PMID:29016939|PMID:29247119|PMID:29447731|PMID:29875424|PMID:30012837|PMID:30086531|PMID:30165862|PMID:30260051|PMID:30471092|PMID:30531895|PMID:30847666|PMID:31110529|PMID:31333075|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32140910|PMID:32880476|PMID:33297573|PMID:33552729|PMID:33658040|PMID:34088380|PMID:34184449|PMID:34426522|PMID:34935411|PMID:9536098 11795371 MYPN myopalladin gene DOID:0110933 nemaline myopathy 11 ISO RGD:1318320 D RGD:7240710 20190315 OMIM 11795371 MYPN myopalladin gene DOID:0110933 nemaline myopathy 11 ISO RGD:1318320 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 11, autosomal recessive PMID:17576681|PMID:18006477|PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24558114|PMID:25741868|PMID:26498160|PMID:26899768|PMID:27896284|PMID:28017374|PMID:28220527|PMID:28416588|PMID:28427417|PMID:28492532|PMID:29247119|PMID:29447731|PMID:30471092|PMID:30847666|PMID:31110529|PMID:31333075|PMID:31568572|PMID:31983221|PMID:32880476|PMID:33297573|PMID:34088380|PMID:9536098 11795371 MYPN myopalladin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1318320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:18006477|PMID:20801532|PMID:22286171|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27884173|PMID:27896284|PMID:28492532|PMID:31513939 11795371 MYPN myopalladin gene DOID:12930 dilated cardiomyopathy ISO RGD:1318320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18006477|PMID:20801532|PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:26899768|PMID:27884173|PMID:27896284|PMID:28416588|PMID:28492532|PMID:30012837|PMID:31333075|PMID:31568572 11795371 MYPN myopalladin gene DOID:12930 dilated cardiomyopathy ISO RGD:1318320 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18006477|PMID:20801532|PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:26899768|PMID:27884173|PMID:27896284|PMID:28416588|PMID:28492532|PMID:30012837|PMID:30847666|PMID:31333075|PMID:31568572 11795371 MYPN myopalladin gene DOID:2843 long QT syndrome ISO RGD:1318320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 11795371 MYPN myopalladin gene DOID:397 restrictive cardiomyopathy ISO RGD:1318320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:25741868|PMID:28492532 11795371 MYPN myopalladin gene DOID:6000 congestive heart failure ISO RGD:1318320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart failure PMID:22286171|PMID:23299917|PMID:24033266|PMID:25741868|PMID:28492532 11795371 MYPN myopalladin gene DOID:630 genetic disease ISO RGD:1318320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11795371 MYPN myopalladin gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1318320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|PMID:29447731|PMID:31110529|PMID:33297573 11795371 MYPN myopalladin gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1318320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:25741868|PMID:28492532|PMID:29447731|PMID:31110529|PMID:33297573 11795371 MYPN myopalladin gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:1318320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:25741868|PMID:28492532 11795371 MYPN myopalladin gene DOID:9007820 Sudden Death ISO RGD:1318320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:25741868|PMID:28492532 11795403 BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:0050712 AGAT deficiency ISO RGD:1320975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 11795403 BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:0060547 Hermansky-Pudlak syndrome 9 ISO RGD:1320975 D RGD:7240710 20180130 OMIM 11795403 BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:0060547 Hermansky-Pudlak syndrome 9 ISO RGD:1320975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 9 PMID:10610180|PMID:16199547|PMID:17576681|PMID:21665000|PMID:22461475|PMID:25741868|PMID:26575419|PMID:28492532|PMID:32245340|PMID:33543539|PMID:9536098 11795403 BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:2223 platelet storage pool deficiency ISO RGD:1320976 D RGD:9068941 20220825 MouseDO OMIM:185050 11795403 BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:2717 Bloom syndrome ISO RGD:1320975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11795403 BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1320975 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:25741868|PMID:28492532 11795403 BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1320975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:10610180|PMID:21665000|PMID:22461475|PMID:26575419|PMID:28492532|PMID:33543539 11795403 BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:630 genetic disease ISO RGD:1320975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11795403 BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:9256 colorectal cancer ISO RGD:1320975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11795403 BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:9675 pulmonary emphysema ISO RGD:1320976 D RGD:9068941 20220825 MouseDO OMIM:130700 11795419 ELMOD1 ELMO domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1349956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11795419 ELMOD1 ELMO domain containing 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1349956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11795419 ELMOD1 ELMO domain containing 1 gene DOID:630 genetic disease ISO RGD:1349956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11795419 ELMOD1 ELMO domain containing 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1349956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11795435 SMAD9 SMAD family member 9 gene DOID:10283 prostate cancer ISO RGD:1350114 D RGD:9068941 20200609 RGD protein:altered localization PMID:15042598|REF_RGD_ID:2299981 11795435 SMAD9 SMAD family member 9 gene DOID:1324 lung cancer ISO RGD:1350114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:21515830|PMID:24465803|PMID:26253951 11795435 SMAD9 SMAD family member 9 gene DOID:14557 primary pulmonary hypertension ISO RGD:1350114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11795435 SMAD9 SMAD family member 9 gene DOID:14557 primary pulmonary hypertension ISO RGD:733518 D RGD:9068941 20220825 MouseDO OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 11795435 SMAD9 SMAD family member 9 gene DOID:630 genetic disease ISO RGD:1350114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11795435 SMAD9 SMAD family member 9 gene DOID:6432 pulmonary hypertension ISO RGD:71004 D RGD:9068941 20200609 RGD PMID:17347486|REF_RGD_ID:1643222 11795435 SMAD9 SMAD family member 9 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1350114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease PMID:25741868|PMID:28492532|PMID:30029678 11795435 SMAD9 SMAD family member 9 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:71004 D RGD:9068941 20200609 RGD mRNA:decreased expression:hypoglossal nucleus PMID:17166487|REF_RGD_ID:1643227 11795435 SMAD9 SMAD family member 9 gene DOID:9003493 Primary Pulmonary Hypertension, 2 ISO RGD:1350114 D RGD:7240710 20180130 OMIM 11795435 SMAD9 SMAD family member 9 gene DOID:9003493 Primary Pulmonary Hypertension, 2 ISO RGD:1350114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 2 PMID:16199547|PMID:17576681|PMID:19211612|PMID:19419974|PMID:21898662|PMID:21920918|PMID:24033266|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29631995|PMID:30029678|PMID:31727138|PMID:9536098 11795435 SMAD9 SMAD family member 9 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 11795435 SMAD9 SMAD family member 9 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1350114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 11795446 CCDC38 coiled-coil domain containing 38 gene DOID:630 genetic disease ISO RGD:1603366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11795466 ASCC1 activating signal cointegrator 1 complex subunit 1 gene DOID:0111330 combined saposin deficiency ISO RGD:1350086 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency PMID:28492532 11795466 ASCC1 activating signal cointegrator 1 complex subunit 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1350086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:28749478|PMID:31680123|PMID:8677029 11795466 ASCC1 activating signal cointegrator 1 complex subunit 1 gene DOID:12449 aplastic anemia ISO RGD:1350086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aplastic anemia PMID:25741868 11795466 ASCC1 activating signal cointegrator 1 complex subunit 1 gene DOID:630 genetic disease ISO RGD:1350086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11795466 ASCC1 activating signal cointegrator 1 complex subunit 1 gene DOID:9007555 Spinal Muscular Atrophy with Congenital Bone Fractures 2 ISO RGD:1350086 D RGD:7240710 20190315 OMIM 11795466 ASCC1 activating signal cointegrator 1 complex subunit 1 gene DOID:9007555 Spinal Muscular Atrophy with Congenital Bone Fractures 2 ISO RGD:1350086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy with congenital bone fractures 2 PMID:16199547|PMID:21791690|PMID:25741868|PMID:26924529|PMID:28218388|PMID:28492532|PMID:28749478|PMID:30327447|PMID:31680123|PMID:31880396|PMID:33931933|PMID:8677029 11795466 ASCC1 activating signal cointegrator 1 complex subunit 1 gene DOID:9206 Barrett's esophagus ISO RGD:1350086 D RGD:7240710 20180130 OMIM 11795466 ASCC1 activating signal cointegrator 1 complex subunit 1 gene DOID:9206 Barrett's esophagus ISO RGD:1350086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Barrett esophagus | ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma PMID:21791690|PMID:25741868|PMID:28492532 11795487 TTBK1 tau tubulin kinase 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1350960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11795487 TTBK1 tau tubulin kinase 1 gene DOID:630 genetic disease ISO RGD:1350960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11795487 TTBK1 tau tubulin kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 11795487 TTBK1 tau tubulin kinase 1 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1350960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 11795487 TTBK1 tau tubulin kinase 1 gene DOID:905 Zellweger syndrome ISO RGD:1350960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11795505 ZCCHC7 zinc finger CCHC-type containing 7 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1321384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11795505 ZCCHC7 zinc finger CCHC-type containing 7 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1321384 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11795505 ZCCHC7 zinc finger CCHC-type containing 7 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1321384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11795505 ZCCHC7 zinc finger CCHC-type containing 7 gene DOID:630 genetic disease ISO RGD:1321384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11795505 ZCCHC7 zinc finger CCHC-type containing 7 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11795505 ZCCHC7 zinc finger CCHC-type containing 7 gene DOID:9870 galactosemia ISO RGD:1321384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11795532 PTK7 protein tyrosine kinase 7 (inactive) gene DOID:0050444 infantile Refsum disease ISO RGD:1344975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11795532 PTK7 protein tyrosine kinase 7 (inactive) gene DOID:630 genetic disease ISO RGD:1344975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11795532 PTK7 protein tyrosine kinase 7 (inactive) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 11795532 PTK7 protein tyrosine kinase 7 (inactive) gene DOID:905 Zellweger syndrome ISO RGD:1344975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11795559 ZMYM3 zinc finger MYM-type containing 3 gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:1350026 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe combined immunodeficiency PMID:28492532 11795559 ZMYM3 zinc finger MYM-type containing 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11795559 ZMYM3 zinc finger MYM-type containing 3 gene DOID:1059 intellectual disability ISO RGD:1350026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11795559 ZMYM3 zinc finger MYM-type containing 3 gene DOID:12849 autistic disorder ISO RGD:1350026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11795559 ZMYM3 zinc finger MYM-type containing 3 gene DOID:630 genetic disease ISO RGD:1350026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11795559 ZMYM3 zinc finger MYM-type containing 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052|PMID:29610475|PMID:29662167 11795559 ZMYM3 zinc finger MYM-type containing 3 gene DOID:9007898 FG Syndrome 1 ISO RGD:1350026 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 11795559 ZMYM3 zinc finger MYM-type containing 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1350026 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24721225 11795601 DUSP16 dual specificity phosphatase 16 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1321793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 11795601 DUSP16 dual specificity phosphatase 16 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1321793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 11795601 DUSP16 dual specificity phosphatase 16 gene DOID:224 transient cerebral ischemia ISO RGD:1310721 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:hippocampus, cytosol, nucleus PMID:23280045|REF_RGD_ID:7775014 11795601 DUSP16 dual specificity phosphatase 16 gene DOID:630 genetic disease ISO RGD:1321793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11795601 DUSP16 dual specificity phosphatase 16 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1321793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11795611 PCP4 Purkinje cell protein 4 gene DOID:127 leiomyoma ISO RGD:731616 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:uterine myometrium: PMID:14561813|REF_RGD_ID:9850247 11795611 PCP4 Purkinje cell protein 4 gene DOID:12849 autistic disorder ISO RGD:731616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11795611 PCP4 Purkinje cell protein 4 gene DOID:12858 Huntington's disease ISO RGD:731616 D RGD:9068941 20200609 RGD protein:decreased expression:substantium PMID:9697113|REF_RGD_ID:9850159 11795611 PCP4 Purkinje cell protein 4 gene DOID:1824 status epilepticus ISO RGD:3271 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brain: PMID:20505763|REF_RGD_ID:9850150 11795611 PCP4 Purkinje cell protein 4 gene DOID:9002928 Colonic Neoplasms ISO RGD:731616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 11795611 PCP4 Purkinje cell protein 4 gene DOID:9004004 Water-Electrolyte Imbalance ISO RGD:3271 D RGD:9068941 20200609 RGD PMID:11003989|REF_RGD_ID:9850274 11795611 PCP4 Purkinje cell protein 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3271 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cytoplasm: PMID:19480007|REF_RGD_ID:9850273 11795618 PRCD photoreceptor disc component gene DOID:0110405 retinitis pigmentosa 36 ISO RGD:1603415 D RGD:7240710 20180130 OMIM 11795618 PRCD photoreceptor disc component gene DOID:0110405 retinitis pigmentosa 36 ISO RGD:1603415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 36 PMID:16938425|PMID:20507925|PMID:23661369|PMID:23805042|PMID:24992209|PMID:25741868|PMID:28181551|PMID:28492532|PMID:29785639 11795618 PRCD photoreceptor disc component gene DOID:10584 retinitis pigmentosa ISO RGD:1603415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16938425|PMID:17576681|PMID:20507925|PMID:23661369|PMID:23805042|PMID:25741868|PMID:26806561|PMID:28181551|PMID:28492532|PMID:29785639|PMID:9536098 11795618 PRCD photoreceptor disc component gene DOID:630 genetic disease ISO RGD:1603415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11795618 PRCD photoreceptor disc component gene DOID:8501 fundus dystrophy ISO RGD:1603415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16938425|PMID:20507925|PMID:23805042|PMID:25741868|PMID:28181551|PMID:28492532 11795637 TMEM248 transmembrane protein 248 gene DOID:14755 argininosuccinic aciduria ISO RGD:1602880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency PMID:28492532 11795637 TMEM248 transmembrane protein 248 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11795637 TMEM248 transmembrane protein 248 gene DOID:630 genetic disease ISO RGD:1602880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11795668 FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1317522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11795668 FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1317522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11795668 FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1317522 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11795668 FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 gene DOID:1059 intellectual disability ISO RGD:1317522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11795668 FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 gene DOID:12849 autistic disorder ISO RGD:1317522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19365831 11795668 FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 gene DOID:630 genetic disease ISO RGD:1317522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11795668 FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1317522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11795668 FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1317522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062064 11795699 MCTP1 multiple C2 and transmembrane domain containing 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605937 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11795699 MCTP1 multiple C2 and transmembrane domain containing 1 gene DOID:630 genetic disease ISO RGD:1605937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11795699 MCTP1 multiple C2 and transmembrane domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11795699 MCTP1 multiple C2 and transmembrane domain containing 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605937 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11795731 PRMT3 protein arginine methyltransferase 3 gene DOID:1059 intellectual disability ISO RGD:1604394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11795731 PRMT3 protein arginine methyltransferase 3 gene DOID:2841 asthma ISO RGD:620413 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:20423833|REF_RGD_ID:9491823 11795731 PRMT3 protein arginine methyltransferase 3 gene DOID:630 genetic disease ISO RGD:1604394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11795797 LOC106634235 uncharacterized LOC106634235 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:621383 D RGD:9068941 20230511 RGD associated with Myocardial Infarction PMID:20381460|REF_RGD_ID:7242918 11795797 LOC106634235 uncharacterized LOC106634235 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621383 D RGD:9068941 20200611 RGD mRNA:decreased expression:left heart ventricle PMID:19267230|REF_RGD_ID:7243942 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:0050432 Asperger syndrome ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18197083 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:0050848 obstructive sleep apnea ISO RGD:732932 D RGD:9068941 20200609 RGD DNA:polymorphism, repeat:promoter, intron (human) PMID:19014073|REF_RGD_ID:4889462 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:0050848 obstructive sleep apnea no_association ISO RGD:732932 D RGD:9068941 20200609 RGD DNA:polymorphism, repeat:promoter, intron (human) PMID:15867649|REF_RGD_ID:4889466 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:0050848 obstructive sleep apnea no_association ISO RGD:732932 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter (human) PMID:16215942|REF_RGD_ID:4889463 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:0060001 withdrawal disorder ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17000009 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:0060041 autism spectrum disorder ISO RGD:11314 D RGD:9068941 20220825 MouseDO 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:0060041 autism spectrum disorder ISO RGD:732932 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:0060131 alexithymia susceptibility ISO RGD:732932 D RGD:9068941 20200813 RGD associated with Chronic Hepatitis C;DNA:repeats:promoter: PMID:26609890|REF_RGD_ID:11352995 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:0080855 Parkinsonism ISO RGD:3714 D RGD:9068941 20200609 RGD PMID:20447560|REF_RGD_ID:4889474 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:0111253 neurofibromatosis 1 ISO RGD:732932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:10933 obsessive-compulsive disorder ISO RGD:732932 D RGD:7240710 20180130 OMIM 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:10933 obsessive-compulsive disorder ISO RGD:732932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obsessive-compulsive disorder | ClinVar Annotator: match by term: Obsessive-compulsive disorder, susceptibility to | ClinVar Annotator: match by term: Serotonin transporter activity, increased/decreased PMID:11335745|PMID:11559314|PMID:11602621|PMID:11772685|PMID:12130784|PMID:12476327|PMID:12599191|PMID:12869649|PMID:12869766|PMID:12915525|PMID:12966525|PMID:14530202|PMID:14593431|PMID:14593433|PMID:14735161|PMID:15037864|PMID:15108187|PMID:15263905|PMID:15520364|PMID:15578606|PMID:15592465|PMID:15635638|PMID:15642926|PMID:15691525|PMID:15729746|PMID:15824745|PMID:15867107|PMID:15880108|PMID:15995945|PMID:16642437|PMID:17101915|PMID:19531786|PMID:25741868|PMID:7865169|PMID:8632190|PMID:8788073 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:1094 attention deficit hyperactivity disorder severity ISO RGD:732932 D RGD:9068941 20200806 RGD DNA:repeat:promoter: PMID:27430630|REF_RGD_ID:36947879 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:114 heart disease ISO RGD:11314 D RGD:9068941 20200609 RGD PMID:16380550|REF_RGD_ID:4889441 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:114 heart disease ISO RGD:732932 D RGD:9068941 20200609 RGD DNA:insertion:promoter: (human) PMID:10381332|REF_RGD_ID:1580639 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:12206 dengue hemorrhagic fever severity ISO RGD:732932 D RGD:9068941 20200917 RGD DNA;polymorphism:5'utr: (rs25531) (human) PMID:30452889|REF_RGD_ID:38676265 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:12849 autistic disorder ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16721604|PMID:17203304|PMID:17280648|PMID:20649385|PMID:9152989 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:12849 autistic disorder ISO RGD:732932 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:11920155|REF_RGD_ID:9831148 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:12995 conduct disorder ISO RGD:732932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Behavior disorder PMID:12869649|PMID:14593431|PMID:15995945|PMID:18792946|PMID:18957375|PMID:19360675|PMID:19806148|PMID:28492532 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:14320 generalized anxiety disorder treatment ISO RGD:732932 D RGD:9068941 20200730 RGD DNA:repeats, haplotype:promoter: PMID:22907732|REF_RGD_ID:36947386 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:1470 major depressive disorder ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16055263 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:1470 major depressive disorder no_association ISO RGD:732932 D RGD:9068941 20200730 RGD DNA:repeats:promoter: PMID:12872203|REF_RGD_ID:36947382 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:1470 major depressive disorder susceptibility ISO RGD:732932 D RGD:9068941 20200730 RGD DNA:SNPs, haplotypes:multiple PMID:19844206|REF_RGD_ID:5684911 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:1470 major depressive disorder treatment ISO RGD:732932 D RGD:9068941 20200806 RGD DNA:hypomethylation:promoter: PMID:24679990|REF_RGD_ID:36947871 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:1470 major depressive disorder treatment ISO RGD:732932 D RGD:9068941 20200813 RGD DNA:repeats:promoter: PMID:15812265|PMID:27439447|REF_RGD_ID:36947384|REF_RGD_ID:38456009 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:1470 major depressive disorder treatment ISO RGD:732932 D RGD:9068941 20201001 RGD DNA:repeats:promotor: PMID:12955294|REF_RGD_ID:39128240 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:1510 personality disorder ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17000009 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:1561 cognitive disorder ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23209555 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:1574 alcohol use disorder ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15520362|PMID:17000009 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:1574 alcohol use disorder susceptibility ISO RGD:732932 D RGD:9068941 20200609 RGD protein:decreased activity: : PMID:20838391|REF_RGD_ID:6480660 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder ISO RGD:3714 D RGD:9068941 20200609 RGD PMID:18295409|REF_RGD_ID:4889509 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12898347|PMID:18458677|PMID:18686203|PMID:21843009 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder ISO RGD:732932 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive;DNA:SNP: :rs3794808 (human) PMID:20981038|REF_RGD_ID:4889426 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder ISO RGD:732932 D RGD:9068941 20200806 RGD DNA:hypomethylation:promoter PMID:20808944|REF_RGD_ID:36947395 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder ISO RGD:732932 D RGD:9068941 20200924 RGD associated with Chronic Hepatitis C; DNA:insertion/deletion:promoter: PMID:23571152|REF_RGD_ID:38676480 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder severity ISO RGD:732932 D RGD:9068941 20200730 RGD associated with Radiation Injuries;DNA:repeats:promoter: PMID:30582858|REF_RGD_ID:36947387 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder severity ISO RGD:732932 D RGD:9068941 20200806 RGD associated with breast cancer;DNA:repeat:promoter: PMID:22134442|REF_RGD_ID:36947877 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder susceptibility ISO RGD:732932 D RGD:9068941 20200813 RGD associated with Coronary Disease;DNA:repeats:promoter: PMID:23096047|REF_RGD_ID:38456010 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder treatment ISO RGD:732932 D RGD:9068941 20200806 RGD DNA:repeat:promoter: PMID:20664233|REF_RGD_ID:36947869 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:2030 anxiety disorder ISO RGD:732932 D RGD:7240710 20180130 OMIM 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:2030 anxiety disorder ISO RGD:732932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Serotonin transporter activity, increased/decreased PMID:11335745|PMID:11559314|PMID:11602621|PMID:11772685|PMID:12130784|PMID:12476327|PMID:12599191|PMID:12869766|PMID:12915525|PMID:12966525|PMID:14530202|PMID:14593433|PMID:14735161|PMID:15037864|PMID:15108187|PMID:15263905|PMID:15520364|PMID:15578606|PMID:15592465|PMID:15635638|PMID:15642926|PMID:15691525|PMID:15729746|PMID:15824745|PMID:15867107|PMID:15880108|PMID:16642437|PMID:17101915|PMID:19531786|PMID:7865169|PMID:8632190|PMID:8788073 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:2841 asthma susceptibility ISO RGD:732932 D RGD:9068941 20200609 RGD DNA:repeat:intron (human) PMID:19806585|REF_RGD_ID:4889460 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:303 substance-related disorder ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19272758 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:732932 D RGD:9068941 20200609 RGD DNA:SNP: :rs2020936 (human) PMID:20981038|REF_RGD_ID:4889426 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:3312 bipolar disorder ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11772685|PMID:16395126 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:3312 bipolar disorder ISO RGD:732932 D RGD:9068941 20200730 RGD DNA:repeats:promoter: PMID:10484962|REF_RGD_ID:36947381 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:3324 mood disorder ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878141 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:732932 D RGD:9068941 20200806 RGD associated with alcohol use disorder;DNA:deletion:promoter:-1212_-1255 (human) PMID:11236836|REF_RGD_ID:36947396 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:5154 borna disease ISO RGD:3714 D RGD:9068941 20200903 RGD protein:increased expression:brain (rat) PMID:12106671|REF_RGD_ID:38549588 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:5419 schizophrenia ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:5434 scrapie susceptibility ISO RGD:11314 D RGD:9068941 20200924 RGD PMID:16730863|REF_RGD_ID:38676483 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:6000 congestive heart failure ISO RGD:732932 D RGD:9068941 20200609 RGD DNA:repeat:promoter (human) PMID:17307423|REF_RGD_ID:4889438 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:630 genetic disease ISO RGD:732932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension ISO RGD:11314 D RGD:9068941 20200609 RGD associated with Anoxia PMID:19736308|REF_RGD_ID:4889432 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension ISO RGD:3714 D RGD:9068941 20200609 RGD PMID:18074800|PMID:19473340|REF_RGD_ID:4889435|REF_RGD_ID:4889437 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension ISO RGD:3714 D RGD:9068941 20200609 RGD associated with Anoxia PMID:11259539|REF_RGD_ID:4889445 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18506000 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension ISO RGD:732932 D RGD:9068941 20200609 RGD PMID:19736308|REF_RGD_ID:4889432 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension ISO RGD:732932 D RGD:9068941 20200609 RGD associated with Heart Septal Defects, Ventricular;DNA:polymorphisms (human) PMID:19886858|REF_RGD_ID:4889430 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension no_association ISO RGD:732932 D RGD:9068941 20200609 RGD DNA:polymorphism, repeat:promoter, intron (human) PMID:16399993|REF_RGD_ID:4889440 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension onset ISO RGD:732932 D RGD:9068941 20200609 RGD DNA:repeat:promoter (human) PMID:16339917|REF_RGD_ID:4889442 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension severity ISO RGD:732932 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive;DNA:polymorphism (human) PMID:19556740|REF_RGD_ID:4889434 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:670 amphetamine abuse ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19689456 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:7475 diverticulitis ISO RGD:732932 D RGD:9068941 20200903 RGD mRNA:decreased expression:colonic mucosa (human) PMID:18491196|REF_RGD_ID:38549586 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:8544 chronic fatigue syndrome ISO RGD:732932 D RGD:9068941 20200730 RGD DNA:repeats:promoter: PMID:14592408|REF_RGD_ID:36947383 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:8544 chronic fatigue syndrome ISO RGD:732932 D RGD:9068941 20200813 RGD protein:decreased expression:rostral anterior cingulate cortex (human) PMID:15570154|REF_RGD_ID:38500210 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:8544 chronic fatigue syndrome severity ISO RGD:732932 D RGD:9068941 20200730 RGD DNA:repeats, haplotype:promoter: PMID:26473596|REF_RGD_ID:11098915 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:9001204 Dyspepsia ISO RGD:732932 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:22014438|REF_RGD_ID:6480658 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:9001204 Dyspepsia susceptibility ISO RGD:732932 D RGD:9068941 20200917 RGD DNA:haplotypes, multiple: PMID:24720453|REF_RGD_ID:36947385 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:9002669 Hypoxia ISO RGD:3714 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:11259539|REF_RGD_ID:4889445 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:9002953 Escherichia Coli Infections ISO RGD:11314 D RGD:9068941 20200730 RGD PMID:19747920|REF_RGD_ID:36947380 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:732932 D RGD:9068941 20200917 RGD associated with alexithymia;DNA:haplotypes, multiple: PMID:26609890|REF_RGD_ID:11352995 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:9004086 AIDS Dementia Complex ISO RGD:11314 D RGD:9068941 20200917 RGD PMID:25404050|REF_RGD_ID:38676266 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11320258 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:9005632 Cocaine-Related Disorders susceptibility ISO RGD:732932 D RGD:9068941 20200609 RGD protein:decreased activity: : PMID:20838391|REF_RGD_ID:6480660 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:9007 sudden infant death syndrome ISO RGD:11314 D RGD:9068941 20220825 MouseDO OMIM:272120 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:9007 sudden infant death syndrome ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12599191 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:9007730 Burns ISO RGD:3714 D RGD:9068941 20200609 RGD PMID:17711618|REF_RGD_ID:4889516 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:9008023 Memory Disorders ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18661256|PMID:18686203 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:9008114 Helicobacter Infections ISO RGD:732932 D RGD:9068941 20200730 RGD DNA:repeats:promoter: PMID:24720453|REF_RGD_ID:36947385 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:9008945 Gram-Negative Bacterial Infections ISO RGD:11314 D RGD:9068941 20200924 RGD protein:decreased expression:colon (mouse) PMID:16548890|REF_RGD_ID:38676481 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:9065 leishmaniasis ISO RGD:732932 D RGD:9068941 20200806 RGD lupoid leishmaniasis;protein:increased expression:skin of body (human) PMID:23989888|REF_RGD_ID:36947873 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:936 brain disease ISO RGD:732932 D RGD:9068941 20200903 RGD associated with hepatiis C;protein:increased binding:brain (human) PMID:21629258|REF_RGD_ID:38549583 11795807 SLC6A4 solute carrier family 6 member 4 gene DOID:9784 trichinosis ISO RGD:11314 D RGD:9068941 20200924 RGD protein:decreased expression:jejunum (mouse) PMID:16336502|REF_RGD_ID:38676482 11795826 PAGE4 PAGE family member 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11795826 PAGE4 PAGE family member 4 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1346380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 11795826 PAGE4 PAGE family member 4 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1346380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11795826 PAGE4 PAGE family member 4 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1346380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11795826 PAGE4 PAGE family member 4 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1346380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11795826 PAGE4 PAGE family member 4 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1346380 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 11795826 PAGE4 PAGE family member 4 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1346380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 11795826 PAGE4 PAGE family member 4 gene DOID:12849 autistic disorder ISO RGD:1346380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11795826 PAGE4 PAGE family member 4 gene DOID:630 genetic disease ISO RGD:1346380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11795826 PAGE4 PAGE family member 4 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1346380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 11795841 LOC100980404 cytochrome c oxidase subunit 4 isoform 2, mitochondrial gene DOID:630 genetic disease ISO RGD:735839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11795841 LOC100980404 cytochrome c oxidase subunit 4 isoform 2, mitochondrial gene DOID:9005288 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis ISO RGD:735839 D RGD:7240710 20180130 OMIM 11795841 LOC100980404 cytochrome c oxidase subunit 4 isoform 2, mitochondrial gene DOID:9005288 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis ISO RGD:735839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis PMID:19268275|PMID:25741868|PMID:28492532 11795850 SLC29A3 solute carrier family 29 member 3 gene DOID:0111278 histiocytosis-lymphadenopathy plus syndrome ISO RGD:1351725 D RGD:7240710 20180130 OMIM 11795850 SLC29A3 solute carrier family 29 member 3 gene DOID:0111278 histiocytosis-lymphadenopathy plus syndrome ISO RGD:1351725 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: H syndrome PMID:16118898|PMID:16155931|PMID:16199547|PMID:16650224|PMID:17461801|PMID:17576681|PMID:18414213|PMID:18940313|PMID:18947330|PMID:19175903|PMID:19336477|PMID:19889517|PMID:20140240|PMID:20199539|PMID:20595384|PMID:20619369|PMID:21178579|PMID:21888995|PMID:22238637|PMID:22653152|PMID:22679148|PMID:22875837|PMID:23406517|PMID:23530176|PMID:23789599|PMID:24172204|PMID:24894595|PMID:25741868|PMID:25963354|PMID:25967258|PMID:26074390|PMID:27143505|PMID:27215564|PMID:27364927|PMID:28492532|PMID:28554179|PMID:29041934|PMID:29751792|PMID:29808591|PMID:30537558|PMID:30783801|PMID:31276222|PMID:31464584|PMID:33837634|PMID:33947670|PMID:9536098|PMID:9545394 11795850 SLC29A3 solute carrier family 29 member 3 gene DOID:1682 congenital heart disease ISO RGD:1351725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20140240 11795850 SLC29A3 solute carrier family 29 member 3 gene DOID:1924 hypogonadism ISO RGD:1351725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20140240 11795850 SLC29A3 solute carrier family 29 member 3 gene DOID:3138 acanthosis nigricans ISO RGD:1351725 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Acanthosis nigricans PMID:25741868|PMID:28492532|PMID:29751792|PMID:31464584 11795850 SLC29A3 solute carrier family 29 member 3 gene DOID:3405 histiocytosis ISO RGD:1351725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22238637 11795850 SLC29A3 solute carrier family 29 member 3 gene DOID:420 hypertrichosis ISO RGD:1351725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19336477|PMID:20140240 11795850 SLC29A3 solute carrier family 29 member 3 gene DOID:630 genetic disease ISO RGD:1351725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11795850 SLC29A3 solute carrier family 29 member 3 gene DOID:9000755 Asrar Facharzt Haque Syndrome ISO RGD:1351725 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Asrar Facharzt Haque syndrome PMID:25741868|PMID:28492532|PMID:29751792|PMID:31464584 11795850 SLC29A3 solute carrier family 29 member 3 gene DOID:9001904 Sinus Histiocytosis ISO RGD:1351725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20140240 11795850 SLC29A3 solute carrier family 29 member 3 gene DOID:9003984 Hyperpigmentation ISO RGD:1351725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19336477|PMID:20140240 11795850 SLC29A3 solute carrier family 29 member 3 gene DOID:9004538 Hearing Loss ISO RGD:1351725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20140240 11795850 SLC29A3 solute carrier family 29 member 3 gene DOID:9005369 Hepatomegaly ISO RGD:1351725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20140240 11795850 SLC29A3 solute carrier family 29 member 3 gene DOID:9006667 Dysosteosclerosis ISO RGD:1351725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysosteosclerosis PMID:28492532|PMID:33837634 11795850 SLC29A3 solute carrier family 29 member 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1351725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19336477|PMID:20140240 11795869 POU4F2 POU class 4 homeobox 2 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1346191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 11795869 POU4F2 POU class 4 homeobox 2 gene DOID:630 genetic disease ISO RGD:1346191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11795886 ARK2C arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C gene DOID:0060356 Vici syndrome ISO RGD:1343595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 11795886 ARK2C arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C gene DOID:0080600 COVID-19 ISO RGD:1343595 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11795886 ARK2C arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C gene DOID:1059 intellectual disability ISO RGD:1343595 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11795886 ARK2C arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C gene DOID:630 genetic disease ISO RGD:1343595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11795886 ARK2C arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1343595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 11795905 BIRC7 baculoviral IAP repeat containing 7 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11795905 BIRC7 baculoviral IAP repeat containing 7 gene DOID:0050860 colorectal adenoma ISO RGD:1345581 D RGD:9068941 20200609 RGD PMID:21122381|REF_RGD_ID:13217408 11795905 BIRC7 baculoviral IAP repeat containing 7 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:1345581 D RGD:9068941 20200609 RGD PMID:21122381|REF_RGD_ID:13217408 11795905 BIRC7 baculoviral IAP repeat containing 7 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1345581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11795905 BIRC7 baculoviral IAP repeat containing 7 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1345581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11795905 BIRC7 baculoviral IAP repeat containing 7 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1345581 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11795905 BIRC7 baculoviral IAP repeat containing 7 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11795905 BIRC7 baculoviral IAP repeat containing 7 gene DOID:1107 esophageal carcinoma disease_progression ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:esophagus (human) PMID:31964418|REF_RGD_ID:153344516 11795905 BIRC7 baculoviral IAP repeat containing 7 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1345581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 11795905 BIRC7 baculoviral IAP repeat containing 7 gene DOID:2526 prostate adenocarcinoma exacerbates ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNALincreased expression:prostate gland (human) PMID:31964418|REF_RGD_ID:153344516 11795905 BIRC7 baculoviral IAP repeat containing 7 gene DOID:3459 breast carcinoma disease_progression ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:breast (human) PMID:31964418|REF_RGD_ID:153344516 11795905 BIRC7 baculoviral IAP repeat containing 7 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:stomach (human) PMID:31964418|REF_RGD_ID:153344516 11795905 BIRC7 baculoviral IAP repeat containing 7 gene DOID:3948 adrenocortical carcinoma ameliorates ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:adrenal gland (human) PMID:31964418|REF_RGD_ID:153344516 11795905 BIRC7 baculoviral IAP repeat containing 7 gene DOID:3963 thyroid gland carcinoma disease_progression ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:thyroid gland (human) PMID:31964418|REF_RGD_ID:153344516 11795905 BIRC7 baculoviral IAP repeat containing 7 gene DOID:4006 bladder urothelial carcinoma disease_progression ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:urinary bladder (human) PMID:31964418|REF_RGD_ID:153344516 11795905 BIRC7 baculoviral IAP repeat containing 7 gene DOID:4074 pancreatic adenocarcinoma exacerbates ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:pancreas (human) PMID:31964418|REF_RGD_ID:153344516 11795905 BIRC7 baculoviral IAP repeat containing 7 gene DOID:4450 renal cell carcinoma ISO RGD:1345581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17437058|PMID:25401301 11795905 BIRC7 baculoviral IAP repeat containing 7 gene DOID:6039 uveal melanoma exacerbates ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:uvea (human) PMID:31964418|REF_RGD_ID:153344516 11795905 BIRC7 baculoviral IAP repeat containing 7 gene DOID:630 genetic disease ISO RGD:1345581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11795905 BIRC7 baculoviral IAP repeat containing 7 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:liver (human) PMID:31964418|REF_RGD_ID:153344516 11795905 BIRC7 baculoviral IAP repeat containing 7 gene DOID:7474 malignant pleural mesothelioma ameliorates ISO RGD:1345581 D RGD:9068941 20220825 RGD mRNA:increased expression:pleura, lung (human) PMID:17253596|REF_RGD_ID:153344528 11795917 KCTD1 potassium channel tetramerization domain containing 1 gene DOID:0111550 scalp-ear-nipple syndrome ISO RGD:1352985 D RGD:7240710 20180130 OMIM 11795917 KCTD1 potassium channel tetramerization domain containing 1 gene DOID:0111550 scalp-ear-nipple syndrome ISO RGD:1352985 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Scalp-ear-nipple syndrome PMID:10517259|PMID:16411189|PMID:1799422|PMID:23541344|PMID:25741868|PMID:28492532|PMID:8042668|PMID:9383029 11795917 KCTD1 potassium channel tetramerization domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1352985 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11795917 KCTD1 potassium channel tetramerization domain containing 1 gene DOID:630 genetic disease ISO RGD:1352985 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11795926 MAFF MAF bZIP transcription factor F gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1319919 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11795926 MAFF MAF bZIP transcription factor F gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1319919 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11795926 MAFF MAF bZIP transcription factor F gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1319919 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11795926 MAFF MAF bZIP transcription factor F gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1319919 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11795926 MAFF MAF bZIP transcription factor F gene DOID:630 genetic disease ISO RGD:1319919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11795926 MAFF MAF bZIP transcription factor F gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1319919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11795935 PRKACB protein kinase cAMP-activated catalytic subunit beta gene DOID:0050625 biliary tract benign neoplasm ISO RGD:1321558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26258846 11795935 PRKACB protein kinase cAMP-activated catalytic subunit beta gene DOID:0050891 adrenal cortical adenoma ISO RGD:1321558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29669941 11795935 PRKACB protein kinase cAMP-activated catalytic subunit beta gene DOID:2316 brain ischemia ISO RGD:1310574 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus, cerebral cortex, cytosol, nucleus PMID:12150772|REF_RGD_ID:7327190 11795935 PRKACB protein kinase cAMP-activated catalytic subunit beta gene DOID:4947 cholangiocarcinoma ISO RGD:1321558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26258846 11795935 PRKACB protein kinase cAMP-activated catalytic subunit beta gene DOID:630 genetic disease ISO RGD:1321558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11795935 PRKACB protein kinase cAMP-activated catalytic subunit beta gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:1310574 D RGD:9068941 20200609 RGD PMID:7769990|REF_RGD_ID:7327191 11795935 PRKACB protein kinase cAMP-activated catalytic subunit beta gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16949795 11795935 PRKACB protein kinase cAMP-activated catalytic subunit beta gene DOID:9003250 Cardioacrofacial Dysplasia 2 ISO RGD:1321558 D RGD:7240710 20210113 OMIM 11795935 PRKACB protein kinase cAMP-activated catalytic subunit beta gene DOID:9003250 Cardioacrofacial Dysplasia 2 ISO RGD:1321558 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cardioacrofacial dysplasia 2 PMID:25741868|PMID:33058759 11795935 PRKACB protein kinase cAMP-activated catalytic subunit beta gene DOID:9005158 Cushing Syndrome ISO RGD:1321558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29669941 11795952 CDC42SE1 CDC42 small effector 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1346360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11795952 CDC42SE1 CDC42 small effector 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1346360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11795952 CDC42SE1 CDC42 small effector 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1346360 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11795952 CDC42SE1 CDC42 small effector 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1346360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11795952 CDC42SE1 CDC42 small effector 1 gene DOID:5812 MHC class II deficiency ISO RGD:1346360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11795952 CDC42SE1 CDC42 small effector 1 gene DOID:630 genetic disease ISO RGD:1346360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11795952 CDC42SE1 CDC42 small effector 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11795952 CDC42SE1 CDC42 small effector 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:0050545 visceral heterotaxy ISO RGD:1331854 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:0050777 Joubert syndrome ISO RGD:2289739 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24033266|PMID:24360807|PMID:24706459|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27894351|PMID:28492532|PMID:29165578|PMID:29620724|PMID:30267408|PMID:31680349|PMID:32165824|PMID:32488064|PMID:34906502|PMID:8253763|PMID:9536098 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:0050777 Joubert syndrome ISO RGD:2289739 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24033266|PMID:24360807|PMID:24706459|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27854218|PMID:27894351|PMID:28125082|PMID:28492532|PMID:29165578|PMID:29620724|PMID:30267408|PMID:31680349|PMID:32165824|PMID:32488064|PMID:34906502|PMID:8253763|PMID:9536098 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:0050777 Joubert syndrome ISO RGD:2289739 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24033266|PMID:24360807|PMID:24706459|PMID:25525159|PMID:25741868|PMID:26062849|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27848944|PMID:27894351|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28518168|PMID:29039169|PMID:29146704|PMID:29165578|PMID:29620724|PMID:30055837|PMID:30091983|PMID:30267408|PMID:31618753|PMID:31680349|PMID:31738409|PMID:32165824|PMID:32461654|PMID:32488064|PMID:34182252|PMID:34906502|PMID:8253763|PMID:9536098 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:0050777 Joubert syndrome ISO RGD:2289739 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24033266|PMID:24360807|PMID:24706459|PMID:25741868|PMID:26062849|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27848944|PMID:27894351|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28518168|PMID:29039169|PMID:29146704|PMID:29620724|PMID:30055837|PMID:30091983|PMID:30267408|PMID:31618753|PMID:31680349|PMID:31738409|PMID:32165824|PMID:32461654|PMID:32488064|PMID:34182252|PMID:34194672|PMID:34906502|PMID:8253763|PMID:9536098 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:0050778 Meckel syndrome ISO RGD:2289739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:16199547|PMID:18414213|PMID:18950740|PMID:19466712|PMID:19777577|PMID:22241855|PMID:22425360|PMID:23012439|PMID:24033266|PMID:24360807|PMID:25741868|PMID:26062849|PMID:26092869|PMID:26477546|PMID:26485645|PMID:27081510|PMID:27082236|PMID:27894351|PMID:28125082|PMID:28492532|PMID:28497568|PMID:29146704|PMID:30055837 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:0060668 anencephaly ISO RGD:2289739 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Anencephaly PMID:16199547|PMID:19466712|PMID:19777577|PMID:25741868|PMID:26092869|PMID:28492532 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:0070115 Meckel syndrome 1 ISO RGD:2289739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome PMID:16199547|PMID:18950740|PMID:19777577|PMID:22241855|PMID:22425360|PMID:23012439|PMID:24033266|PMID:24360807|PMID:25741868|PMID:26062849|PMID:26092869|PMID:26477546|PMID:26485645|PMID:27081510|PMID:27082236|PMID:27894351|PMID:28125082|PMID:28492532|PMID:28497568|PMID:29146704|PMID:30055837 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:0070120 Meckel syndrome 6 ISO RGD:2289739 D RGD:7240710 20180130 OMIM 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:0070120 Meckel syndrome 6 ISO RGD:2289739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 6 PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22995991|PMID:23351400|PMID:24360807|PMID:24706459|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26729329|PMID:27081510|PMID:27082236|PMID:27894351|PMID:28125082|PMID:28492532|PMID:29039169|PMID:32165824|PMID:32488064|PMID:8253763|PMID:9536098 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:0110980 Joubert syndrome 1 ISO RGD:2289739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24033266|PMID:24360807|PMID:24706459|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27848944|PMID:27894351|PMID:28492532|PMID:29165578|PMID:29620724|PMID:30267408|PMID:31680349|PMID:32165824|PMID:32488064|PMID:34906502|PMID:8253763|PMID:9536098 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:0110980 Joubert syndrome 1 ISO RGD:2289739 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:18950740|PMID:19777577|PMID:21068128|PMID:22241855|PMID:22425360|PMID:22995991|PMID:23012439|PMID:24033266|PMID:24360807|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26485645|PMID:27081510|PMID:27082236|PMID:28492532|PMID:29165578 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:0110980 Joubert syndrome 1 ISO RGD:2289739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:18950740|PMID:19777577|PMID:21068128|PMID:22241855|PMID:22425360|PMID:22995991|PMID:23012439|PMID:24033266|PMID:24360807|PMID:25741868|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26485645|PMID:27081510|PMID:27082236|PMID:27894351|PMID:28125082|PMID:28492532|PMID:28497568|PMID:29146704|PMID:30055837 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:0111004 Joubert syndrome 9 ISO RGD:2289739 D RGD:7240710 20180130 OMIM 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:0111004 Joubert syndrome 9 ISO RGD:2289739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome 9 | ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic PMID:16199547|PMID:17576681|PMID:18387594|PMID:18414213|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:22241855|PMID:22246503|PMID:22425360|PMID:23012439|PMID:23692786|PMID:24033266|PMID:24706459|PMID:25741868|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:27081510|PMID:27082236|PMID:27848944|PMID:27894351|PMID:27959436|PMID:28125082|PMID:28492532|PMID:29620724|PMID:30091983|PMID:31618753|PMID:32488064|PMID:34906502|PMID:8253763|PMID:9536098 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:0111004 Joubert syndrome 9 no_association ISO RGD:2289739 D RGD:9068941 20200609 RGD DNA:mutations: :multiple PMID:22241855|REF_RGD_ID:11062645 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:1059 intellectual disability ISO RGD:2289739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:28492532 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:1059 intellectual disability no_association ISO RGD:2289739 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs7664843, rs1861044 (human) PMID:22023432|REF_RGD_ID:11535973 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:10907 microcephaly ISO RGD:2289739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:1148 polydactyly ISO RGD:2289739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:19466712|PMID:19777577|PMID:25741868|PMID:26092869|PMID:28492532 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:11836 clubfoot ISO RGD:2289739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:16199547|PMID:19466712|PMID:19777577|PMID:25741868|PMID:26092869|PMID:28492532 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:12712 nephronophthisis ISO RGD:2289739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:630 genetic disease ISO RGD:2289739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:22241855|PMID:22425360|PMID:23012439|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26477546|PMID:26485645|PMID:26729329|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28518168|PMID:31618753|PMID:31738409|PMID:32165824|PMID:32461654|PMID:32488064|PMID:8253763|PMID:9536098 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:8501 fundus dystrophy ISO RGD:2289739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:19777577|PMID:25741868|PMID:28492532 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:9000639 COACH Syndrome 1 ISO RGD:2289739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: COACH syndrome 1 PMID:18414213|PMID:18950740|PMID:19777577|PMID:21068128|PMID:22241855|PMID:22425360|PMID:23012439|PMID:24033266|PMID:24706459|PMID:25741868|PMID:26092869|PMID:26477546|PMID:26485645|PMID:26729329|PMID:27081510|PMID:27082236|PMID:28492532|PMID:28518168|PMID:29620724|PMID:32461654 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:9000983 Encephalocele ISO RGD:2289739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalocele PMID:19777577|PMID:25741868|PMID:26862157|PMID:28492532|PMID:31680349 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:9001186 Retinitis Pigmentosa 93 ISO RGD:2289739 D RGD:7240710 20220427 OMIM 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:9001186 Retinitis Pigmentosa 93 ISO RGD:2289739 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 93 PMID:28492532|PMID:30267408 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:2289739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2289739 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:19777577|PMID:22241855|PMID:22425360|PMID:23012439|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26477546|PMID:26485645|PMID:28492532 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:9006277 COACH Syndrome 2 ISO RGD:2289739 D RGD:7240710 20201223 OMIM 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:9006277 COACH Syndrome 2 ISO RGD:2289739 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: COACH syndrome 2 PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:22241855|PMID:22246503|PMID:25741868|PMID:26092869|PMID:28125082|PMID:28492532|PMID:32488064 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:2289739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11795969 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:936 brain disease ISO RGD:2289739 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 11796034 ZNF280D zinc finger protein 280D gene DOID:2717 Bloom syndrome ISO RGD:1323434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11796034 ZNF280D zinc finger protein 280D gene DOID:630 genetic disease ISO RGD:1323434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11796034 ZNF280D zinc finger protein 280D gene DOID:9256 colorectal cancer ISO RGD:1323434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11796083 SYT6 synaptotagmin 6 gene DOID:0080690 RASopathy ISO RGD:737166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11796083 SYT6 synaptotagmin 6 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:737166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 11796083 SYT6 synaptotagmin 6 gene DOID:3007 breast ductal carcinoma ISO RGD:737166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 11796083 SYT6 synaptotagmin 6 gene DOID:630 genetic disease ISO RGD:737166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11796083 SYT6 synaptotagmin 6 gene DOID:9001272 Hoyeraal Hreidarsson Syndrome ISO RGD:737166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome PMID:28492532 11796099 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1318101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11796099 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1318101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11796099 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1318101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11796099 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:10283 prostate cancer ISO RGD:1318101 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland (human) PMID:24556744|REF_RGD_ID:9590161 11796099 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:1206 Rett syndrome severity ISO RGD:1558610 D RGD:9068941 20200609 RGD PMID:20869373|REF_RGD_ID:9590158 11796099 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:12849 autistic disorder susceptibility ISO RGD:1318101 D RGD:9068941 20200609 RGD DNA:missense mutation, deletion:cds:p.P529L, p.P1067del (human) PMID:23055267|REF_RGD_ID:9590163 11796099 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:12858 Huntington's disease ISO RGD:1318101 D RGD:9068941 20200609 RGD protein:increased expression:neocortex, caudate nucleus (human) PMID:17142323|REF_RGD_ID:9590159 11796099 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:1324 lung cancer severity ISO RGD:1318101 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:23770855|REF_RGD_ID:9590160 11796099 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1318101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11796099 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:1790 malignant mesothelioma ISO RGD:1318101 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 11796099 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:1909 melanoma ISO RGD:1318101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983785 11796099 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:1909 melanoma severity ISO RGD:1318101 D RGD:9068941 20200609 RGD protein:increased expression:dermis, subcutis, nucleus (human) PMID:24673285|REF_RGD_ID:9590162 11796099 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:3070 high grade glioma severity ISO RGD:1318101 D RGD:9068941 20200609 RGD protein:increased expression:brain, cell nucleus (human) PMID:23943221|REF_RGD_ID:9590166 11796099 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:1318101 D RGD:9068941 20200609 RGD mRNA:increased expression:parietal cortex, lymphocyte (human) PMID:23815974|REF_RGD_ID:9590164 11796099 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:5812 MHC class II deficiency ISO RGD:1318101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11796099 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1318101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11796099 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11796099 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11796134 LRTM2 leucine rich repeats and transmembrane domains 2 gene DOID:630 genetic disease ISO RGD:1605448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11796134 LRTM2 leucine rich repeats and transmembrane domains 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1605448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11796147 ADD3 adducin 3 gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:735411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 11796147 ADD3 adducin 3 gene DOID:0110802 hereditary spastic paraplegia 50 ISO RGD:735411 D RGD:7240710 20190315 OMIM 11796147 ADD3 adducin 3 gene DOID:0110802 hereditary spastic paraplegia 50 ISO RGD:735411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 3 PMID:23836506|PMID:25741868|PMID:28492532|PMID:29768408 11796147 ADD3 adducin 3 gene DOID:10763 hypertension ISO RGD:2043 D RGD:9068941 20200609 RGD PMID:12364392|REF_RGD_ID:704369 11796147 ADD3 adducin 3 gene DOID:10907 microcephaly ISO RGD:735411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11796147 ADD3 adducin 3 gene DOID:1969 cerebral palsy ISO RGD:735411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:23836506|PMID:25741868 11796147 ADD3 adducin 3 gene DOID:2316 brain ischemia ISO RGD:735411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17901229 11796147 ADD3 adducin 3 gene DOID:3312 bipolar disorder ISO RGD:735411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 11796147 ADD3 adducin 3 gene DOID:3602 toxic encephalopathy ISO RGD:735411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11796147 ADD3 adducin 3 gene DOID:576 proteinuria ISO RGD:2043 D RGD:9068941 20210917 RGD PMID:32029431|REF_RGD_ID:150340736 11796147 ADD3 adducin 3 gene DOID:630 genetic disease ISO RGD:735411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11796147 ADD3 adducin 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11796147 ADD3 adducin 3 gene DOID:9003311 Urinary Calculi ISO RGD:2043 D RGD:9068941 20200609 RGD PMID:15329129|REF_RGD_ID:2317717 11796198 SP140 SP140 nuclear body protein gene DOID:0060476 Perlman syndrome ISO RGD:1314926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11796198 SP140 SP140 nuclear body protein gene DOID:0110991 Joubert syndrome 22 ISO RGD:1314926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11796198 SP140 SP140 nuclear body protein gene DOID:0112254 hepatic venoocclusive disease with immunodeficiency ISO RGD:1314926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatic veno-occlusive disease-immunodeficiency syndrome PMID:16648851|PMID:16803959|PMID:17510920|PMID:17576681|PMID:19780822|PMID:20301448|PMID:21536091|PMID:22621957|PMID:23448538|PMID:24033266|PMID:25741868|PMID:27577878|PMID:28492532|PMID:32888943|PMID:9536098 11796198 SP140 SP140 nuclear body protein gene DOID:399 tuberculosis ISO RGD:1314926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to PMID:16803959|PMID:16816019|PMID:17149599 11796198 SP140 SP140 nuclear body protein gene DOID:630 genetic disease ISO RGD:1314926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11796198 SP140 SP140 nuclear body protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11796198 SP140 SP140 nuclear body protein gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1314926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18758461 11796239 PRPSAP1 phosphoribosyl pyrophosphate synthetase associated protein 1 gene DOID:630 genetic disease ISO RGD:733778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11796253 DCTPP1 dCTP pyrophosphatase 1 gene DOID:630 genetic disease ISO RGD:1601967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11796260 EML3 EMAP like 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606414 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11796260 EML3 EMAP like 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1606414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 11796260 EML3 EMAP like 3 gene DOID:1059 intellectual disability ISO RGD:1606414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11796260 EML3 EMAP like 3 gene DOID:630 genetic disease ISO RGD:1606414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11796286 ICAM4 intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) gene DOID:630 genetic disease ISO RGD:1319054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11796293 RHBDF1 rhomboid 5 homolog 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1312890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 11796293 RHBDF1 rhomboid 5 homolog 1 gene DOID:630 genetic disease ISO RGD:1312890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11796314 MKKS MKKS centrosomal shuttling protein gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1318801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 11796314 MKKS MKKS centrosomal shuttling protein gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1318801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of PMID:12837689 11796314 MKKS MKKS centrosomal shuttling protein gene DOID:0110128 Bardet-Biedl syndrome 6 ISO RGD:1318801 D RGD:7240710 20180130 OMIM 11796314 MKKS MKKS centrosomal shuttling protein gene DOID:0110128 Bardet-Biedl syndrome 6 ISO RGD:1318801 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 6 PMID:10802661|PMID:10973238|PMID:10973251|PMID:11179009|PMID:11567139|PMID:12107442|PMID:12920096|PMID:15637713|PMID:15731008|PMID:17576681|PMID:18094050|PMID:20080638|PMID:20177705|PMID:20226561|PMID:20472660|PMID:20498079|PMID:21209035|PMID:22446187|PMID:22500027|PMID:25741868|PMID:25982971|PMID:26900326|PMID:27491411|PMID:28492532|PMID:28761321|PMID:29127258|PMID:9536098 11796314 MKKS MKKS centrosomal shuttling protein gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:1318801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 11796314 MKKS MKKS centrosomal shuttling protein gene DOID:0111255 McKusick-Kaufman syndrome ISO RGD:1318801 D RGD:7240710 20180130 OMIM 11796314 MKKS MKKS centrosomal shuttling protein gene DOID:0111255 McKusick-Kaufman syndrome ISO RGD:1318801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: McKusick-Kaufman syndrome PMID:10802661|PMID:10973251|PMID:11179009|PMID:11567139|PMID:12107442|PMID:12920096|PMID:15666242|PMID:18094050|PMID:20080638|PMID:20142850|PMID:20177705|PMID:20226561|PMID:20472660|PMID:20498079|PMID:21209035|PMID:22446187|PMID:22500027|PMID:24400638|PMID:25741868|PMID:25982971|PMID:26900326|PMID:27491411|PMID:28492532|PMID:28761321|PMID:29127258|PMID:30614526|PMID:33520300 11796314 MKKS MKKS centrosomal shuttling protein gene DOID:12712 nephronophthisis ISO RGD:1318801 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:10802661|PMID:10973251|PMID:11567139|PMID:18094050|PMID:20177705|PMID:20226561|PMID:20498079|PMID:21209035|PMID:25741868|PMID:25982971|PMID:28492532 11796314 MKKS MKKS centrosomal shuttling protein gene DOID:1682 congenital heart disease ISO RGD:1318801 D RGD:9068941 20200609 RGD PMID:12107442|REF_RGD_ID:1582516 11796314 MKKS MKKS centrosomal shuttling protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1318801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:10802661|PMID:10973238|PMID:10973251|PMID:11179009|PMID:11567139|PMID:12107442|PMID:12920096|PMID:15637713|PMID:15731008|PMID:15770229|PMID:16104012|PMID:17576681|PMID:18094050|PMID:20080638|PMID:20142850|PMID:20177705|PMID:20226561|PMID:20472660|PMID:20498079|PMID:20502701|PMID:21209035|PMID:22353939|PMID:22446187|PMID:22500027|PMID:24400638|PMID:25741868|PMID:25982971|PMID:26355662|PMID:26900326|PMID:27491411|PMID:28492532|PMID:28624958|PMID:28753627|PMID:28761321|PMID:2896767|PMID:29127258|PMID:30614526|PMID:30718709|PMID:33138063|PMID:33520300|PMID:9536098 11796314 MKKS MKKS centrosomal shuttling protein gene DOID:630 genetic disease ISO RGD:1318801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10802661|PMID:10973251|PMID:11567139|PMID:15637713|PMID:15666242|PMID:17576681|PMID:18094050|PMID:20177705|PMID:20226561|PMID:20498079|PMID:21209035|PMID:22446187|PMID:25741868|PMID:25982971|PMID:28492532|PMID:9536098 11796314 MKKS MKKS centrosomal shuttling protein gene DOID:8501 fundus dystrophy ISO RGD:1318801 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10802661|PMID:10973251|PMID:11567139|PMID:18094050|PMID:20177705|PMID:20226561|PMID:20498079|PMID:21209035|PMID:25741868|PMID:25982971|PMID:28492532 11796314 MKKS MKKS centrosomal shuttling protein gene DOID:9000726 Bardet-Biedl Syndrome 2/6, Digenic ISO RGD:1318801 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bardet-biedl syndrome 2/6, digenic PMID:10802661|PMID:10973251|PMID:11567139|PMID:18094050|PMID:20177705|PMID:20226561|PMID:20498079|PMID:21209035|PMID:22446187|PMID:25741868|PMID:25982971|PMID:28492532 11796314 MKKS MKKS centrosomal shuttling protein gene DOID:9245 Alagille syndrome ISO RGD:1318801 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:10213047|PMID:16575836|PMID:19058200|PMID:22382802|PMID:28492532|PMID:32733715 11796314 MKKS MKKS centrosomal shuttling protein gene DOID:9970 obesity ISO RGD:1318801 D RGD:9068941 20200609 RGD PMID:10973251|REF_RGD_ID:1581208 11796314 MKKS MKKS centrosomal shuttling protein gene DOID:9970 obesity ISO RGD:1318801 D RGD:9068941 20200609 RGD protein:substitution:A242S possible contribution PMID:15483080|REF_RGD_ID:1601414 11796314 MKKS MKKS centrosomal shuttling protein gene DOID:9970 obesity ISO RGD:1318802 D RGD:9068941 20220825 MouseDO OMIM:601665 11796314 MKKS MKKS centrosomal shuttling protein gene DOID:9970 obesity no_association ISO RGD:1318801 D RGD:9068941 20200609 RGD unlikely to play a major role in the pathogenesis of nonsyndromic obesity PMID:15483080|REF_RGD_ID:1601414 11796325 FRMPD4 FERM and PDZ domain containing 4 gene DOID:0070054 Vulto-van Silfout-de Vries syndrome ISO RGD:1353602 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED EXPRESSIVE SPEECH AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES PMID:25741868 11796325 FRMPD4 FERM and PDZ domain containing 4 gene DOID:0080297 Coffin-Siris syndrome 6 ISO RGD:1353602 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 6 PMID:25741868 11796325 FRMPD4 FERM and PDZ domain containing 4 gene DOID:0112018 non-syndromic X-linked intellectual disability 104 ISO RGD:1353602 D RGD:7240710 20190315 OMIM 11796325 FRMPD4 FERM and PDZ domain containing 4 gene DOID:0112018 non-syndromic X-linked intellectual disability 104 ISO RGD:1353602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 PMID:25644381|PMID:25741868|PMID:26394714|PMID:28492532|PMID:29267967 11796325 FRMPD4 FERM and PDZ domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1353602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11796325 FRMPD4 FERM and PDZ domain containing 4 gene DOID:12849 autistic disorder ISO RGD:1353602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 4 PMID:21681106|PMID:25741868|PMID:28492532|PMID:30208311 11796325 FRMPD4 FERM and PDZ domain containing 4 gene DOID:630 genetic disease ISO RGD:1353602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19118189|PMID:25741868|PMID:28492532 11796325 FRMPD4 FERM and PDZ domain containing 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11796346 RBP3 retinol binding protein 3 gene DOID:0050572 cone-rod dystrophy ISO RGD:735986 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 11796346 RBP3 retinol binding protein 3 gene DOID:0110393 retinitis pigmentosa 66 ISO RGD:735986 D RGD:7240710 20180130 OMIM 11796346 RBP3 retinol binding protein 3 gene DOID:0110393 retinitis pigmentosa 66 ISO RGD:735986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 66 PMID:19074801|PMID:21067480|PMID:23105016|PMID:23486466|PMID:24963161|PMID:25741868|PMID:25766589|PMID:27829784|PMID:28492532|PMID:9614228 11796346 RBP3 retinol binding protein 3 gene DOID:10584 retinitis pigmentosa ISO RGD:735986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:19074801|PMID:21067480|PMID:23105016|PMID:24963161|PMID:25741868|PMID:27829784|PMID:28492532|PMID:28512305 11796346 RBP3 retinol binding protein 3 gene DOID:10584 retinitis pigmentosa ISO RGD:735986 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:19074801|PMID:21067480|PMID:23105016|PMID:24963161|PMID:25741868|PMID:27829784|PMID:28492532 11796346 RBP3 retinol binding protein 3 gene DOID:13141 uveitis ISO RGD:735986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21850155 11796346 RBP3 retinol binding protein 3 gene DOID:417 autoimmune disease ISO RGD:735986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20007828|PMID:21850155 11796346 RBP3 retinol binding protein 3 gene DOID:5419 schizophrenia ISO RGD:735986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11796346 RBP3 retinol binding protein 3 gene DOID:630 genetic disease ISO RGD:735986 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11796346 RBP3 retinol binding protein 3 gene DOID:8501 fundus dystrophy ISO RGD:735986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:23105016|PMID:25766589|PMID:26872967|PMID:28492532|PMID:9614228 11796347 ATG9B autophagy related 9B gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1352218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 11796347 ATG9B autophagy related 9B gene DOID:2843 long QT syndrome ISO RGD:1352218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 11796347 ATG9B autophagy related 9B gene DOID:5426 primary ovarian insufficiency ISO RGD:1352218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11796347 ATG9B autophagy related 9B gene DOID:630 genetic disease ISO RGD:1352218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11796365 IL15 interleukin 15 gene DOID:0060496 respiratory allergy ISO RGD:737535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18394133 11796365 IL15 interleukin 15 gene DOID:10247 pleurisy ISO RGD:737535 D RGD:9068941 20200609 RGD PMID:10823416|REF_RGD_ID:4990464 11796365 IL15 interleukin 15 gene DOID:10533 viral pneumonia ISO RGD:10786 D RGD:9068941 20200609 RGD PMID:20335267|REF_RGD_ID:4892670 11796365 IL15 interleukin 15 gene DOID:10608 celiac disease ISO RGD:737535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23269601 11796365 IL15 interleukin 15 gene DOID:11162 respiratory failure ISO RGD:737535 D RGD:9068941 20200609 RGD associated with Influenza PMID:20003352|REF_RGD_ID:4888530 11796365 IL15 interleukin 15 gene DOID:11394 adult respiratory distress syndrome ISO RGD:737535 D RGD:9068941 20200609 RGD associated with Influenza;protein:increased expression:serum PMID:21062445|REF_RGD_ID:5128683 11796365 IL15 interleukin 15 gene DOID:11573 listeriosis ISO RGD:2887 D RGD:9068941 20200609 RGD protein:increased expression:epithelial cell, intestine PMID:9826341|REF_RGD_ID:1626618 11796365 IL15 interleukin 15 gene DOID:11716 prediabetes syndrome ISO RGD:10786 D RGD:9068941 20200609 RGD PMID:11832994|REF_RGD_ID:2313578 11796365 IL15 interleukin 15 gene DOID:12849 autistic disorder ISO RGD:737535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18929414 11796365 IL15 interleukin 15 gene DOID:13406 pulmonary sarcoidosis ISO RGD:737535 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:11742275|REF_RGD_ID:4990461 11796365 IL15 interleukin 15 gene DOID:13564 aspergillosis ISO RGD:737535 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:16893395|REF_RGD_ID:4981337 11796365 IL15 interleukin 15 gene DOID:178 vascular disease ISO RGD:10786 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:carotid artery PMID:16321364|REF_RGD_ID:1626609 11796365 IL15 interleukin 15 gene DOID:2349 arteriosclerosis ISO RGD:10786 D RGD:9068941 20200609 RGD mRNA:increased expression:macrophage, aorta PMID:11485899|REF_RGD_ID:1626612 11796365 IL15 interleukin 15 gene DOID:2349 arteriosclerosis ISO RGD:737535 D RGD:9068941 20200609 RGD mRNA:increased expression:carotid PMID:11485899|REF_RGD_ID:1626612 11796365 IL15 interleukin 15 gene DOID:2841 asthma ISO RGD:10786 D RGD:9068941 20200609 RGD PMID:11160248|PMID:15843549|REF_RGD_ID:4990462|REF_RGD_ID:5000757 11796365 IL15 interleukin 15 gene DOID:2841 asthma ISO RGD:737535 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:15131572|PMID:16629787|REF_RGD_ID:4984421|REF_RGD_ID:5000758 11796365 IL15 interleukin 15 gene DOID:2841 asthma no_association ISO RGD:737535 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:19133918|REF_RGD_ID:5000760 11796365 IL15 interleukin 15 gene DOID:289 endometriosis ISO RGD:737535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 11796365 IL15 interleukin 15 gene DOID:2957 pulmonary tuberculosis ISO RGD:737535 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:11742275|REF_RGD_ID:4990461 11796365 IL15 interleukin 15 gene DOID:3388 periodontal disease ISO RGD:2887 D RGD:9068941 20200609 RGD mRNA:decreased expression:B cell PMID:20618701|REF_RGD_ID:5024938 11796365 IL15 interleukin 15 gene DOID:3393 coronary artery disease ISO RGD:737535 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:serum PMID:16109314|REF_RGD_ID:1626610 11796365 IL15 interleukin 15 gene DOID:3454 brain infarction ISO RGD:737535 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:serum PMID:16109314|REF_RGD_ID:1626610 11796365 IL15 interleukin 15 gene DOID:3770 pulmonary fibrosis ISO RGD:737535 D RGD:9068941 20200609 RGD PMID:21309737|REF_RGD_ID:5147438 11796365 IL15 interleukin 15 gene DOID:399 tuberculosis ISO RGD:10786 D RGD:9068941 20200609 RGD mRNA:altered expression:lung, spleen PMID:16367949|REF_RGD_ID:4987456 11796365 IL15 interleukin 15 gene DOID:4483 rhinitis ISO RGD:10786 D RGD:9068941 20200609 RGD PMID:16750998|REF_RGD_ID:5000756 11796365 IL15 interleukin 15 gene DOID:4989 pancreatitis ISO RGD:2887 D RGD:9068941 20200609 RGD PMID:20332642|REF_RGD_ID:4892671 11796365 IL15 interleukin 15 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:737535 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:20028198|REF_RGD_ID:4892672 11796365 IL15 interleukin 15 gene DOID:630 genetic disease ISO RGD:737535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11796365 IL15 interleukin 15 gene DOID:850 lung disease ISO RGD:737535 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;protein:increased expression:serum PMID:17784951|REF_RGD_ID:4974390 11796365 IL15 interleukin 15 gene DOID:874 bacterial pneumonia ISO RGD:10786 D RGD:9068941 20200609 RGD PMID:17911627|REF_RGD_ID:5000754 11796365 IL15 interleukin 15 gene DOID:9000386 Polyomavirus Infections ISO RGD:737535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 11796365 IL15 interleukin 15 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:737535 D RGD:9068941 20200609 RGD PMID:18394133|REF_RGD_ID:4943853 11796365 IL15 interleukin 15 gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:10786 D RGD:9068941 20200609 RGD PMID:18390740|REF_RGD_ID:4996474 11796365 IL15 interleukin 15 gene DOID:9001488 Human Influenza ISO RGD:10786 D RGD:9068941 20200609 RGD PMID:21098221|REF_RGD_ID:4994196 11796365 IL15 interleukin 15 gene DOID:9001488 Human Influenza ISO RGD:10786 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:20212069|REF_RGD_ID:4996471 11796365 IL15 interleukin 15 gene DOID:9001488 Human Influenza ISO RGD:737535 D RGD:9068941 20200609 RGD PMID:19234203|REF_RGD_ID:4996472 11796365 IL15 interleukin 15 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:10786 D RGD:9068941 20200609 RGD protein:increased expression:alveolar macrophage, bronchial epithelial cell PMID:17611121|REF_RGD_ID:5000755 11796365 IL15 interleukin 15 gene DOID:9002457 Experimental Arthritis ISO RGD:737535 D RGD:9068941 20200609 RGD PMID:20188418|REF_RGD_ID:5000761 11796365 IL15 interleukin 15 gene DOID:9004283 Transplant Rejection ISO RGD:2887 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:17532783|REF_RGD_ID:10402939 11796365 IL15 interleukin 15 gene DOID:9005372 Inflammation ISO RGD:2887 D RGD:9068941 20200609 RGD PMID:12572774|REF_RGD_ID:1626616 11796365 IL15 interleukin 15 gene DOID:9005883 Pleural Effusion ISO RGD:737535 D RGD:9068941 20200609 RGD PMID:15072171|REF_RGD_ID:4990458 11796365 IL15 interleukin 15 gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:737535 D RGD:9068941 20201218 RGD mRNA,protein:increased expression:peripheral blood mononuclear cell,serum,dendritic cell (human) PMID:26541527|REF_RGD_ID:40902860 11796365 IL15 interleukin 15 gene DOID:9007651 Chronic Bronchitis ISO RGD:737535 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:11742275|REF_RGD_ID:4990461 11796365 IL15 interleukin 15 gene DOID:9008212 Diabetic Foot ISO RGD:737535 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:dermis, endothelial cell PMID:17014667|REF_RGD_ID:2313575 11796365 IL15 interleukin 15 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:2887 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:11585642|REF_RGD_ID:1626617 11796365 IL15 interleukin 15 gene DOID:934 viral infectious disease ISO RGD:737535 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive PMID:21235417|REF_RGD_ID:4892668 11796365 IL15 interleukin 15 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737535 D RGD:9068941 20200609 RGD PMID:17670937|REF_RGD_ID:2313574 11796365 IL15 interleukin 15 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737535 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16098919|REF_RGD_ID:2313577 11796365 IL15 interleukin 15 gene DOID:9970 obesity ISO RGD:737535 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:skeletal muscle, plasma PMID:18697873|REF_RGD_ID:2313573 11796384 ANKDD1B ankyrin repeat and death domain containing 1B gene DOID:3323 Sandhoff disease ISO RGD:2301773 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 11796384 ANKDD1B ankyrin repeat and death domain containing 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2301773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11796402 BAZ2B bromodomain adjacent to zinc finger domain 2B gene DOID:12849 autistic disorder ISO RGD:1320334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 11796402 BAZ2B bromodomain adjacent to zinc finger domain 2B gene DOID:630 genetic disease ISO RGD:1320334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11796402 BAZ2B bromodomain adjacent to zinc finger domain 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320334 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:31999386 11796450 SLC25A39 solute carrier family 25 member 39 gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1604622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 11796450 SLC25A39 solute carrier family 25 member 39 gene DOID:630 genetic disease ISO RGD:1604622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11796473 RGS9 regulator of G protein signaling 9 gene DOID:0050335 bradyopsia ISO RGD:732260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bradyopsia PMID:14702087|PMID:17826834|PMID:19818506|PMID:25741868|PMID:28492532|PMID:30718709 11796473 RGS9 regulator of G protein signaling 9 gene DOID:0080855 Parkinsonism ISO RGD:3572 D RGD:9068941 20200609 RGD protein:decreased expression:striatum PMID:20561938|REF_RGD_ID:13524532 11796473 RGS9 regulator of G protein signaling 9 gene DOID:0080855 Parkinsonism ISO RGD:736730 D RGD:9068941 20200609 RGD PMID:18160641|REF_RGD_ID:13524864 11796473 RGS9 regulator of G protein signaling 9 gene DOID:0080855 Parkinsonism treatment ISO RGD:3572 D RGD:9068941 20200609 RGD PMID:21963945|REF_RGD_ID:13524862 11796473 RGS9 regulator of G protein signaling 9 gene DOID:14791 Leber congenital amaurosis ISO RGD:732260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:14702087|PMID:17826834|PMID:19818506|PMID:28492532|PMID:30718709 11796473 RGS9 regulator of G protein signaling 9 gene DOID:5419 schizophrenia ISO RGD:732260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17318883 11796473 RGS9 regulator of G protein signaling 9 gene DOID:630 genetic disease ISO RGD:732260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11796473 RGS9 regulator of G protein signaling 9 gene DOID:8646 substance-induced psychosis ISO RGD:732260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17318883 11796473 RGS9 regulator of G protein signaling 9 gene DOID:9000878 Bradyopsia 1 ISO RGD:732260 D RGD:7240710 20230505 OMIM 11796473 RGS9 regulator of G protein signaling 9 gene DOID:9002525 Hereditary Eye Diseases ISO RGD:732260 D RGD:9068941 20200609 RGD DNA:mutation PMID:14702087|REF_RGD_ID:1599999 11796473 RGS9 regulator of G protein signaling 9 gene DOID:9007387 Oligodontia-Colorectal Cancer Syndrome ISO RGD:732260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome PMID:28492532 11796473 RGS9 regulator of G protein signaling 9 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:732260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18160641|PMID:24663062 11796498 GOLM1 golgi membrane protein 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1322921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11796498 GOLM1 golgi membrane protein 1 gene DOID:630 genetic disease ISO RGD:1322921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11796498 GOLM1 golgi membrane protein 1 gene DOID:9006205 Animal Disease Models ISO RGD:1322921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11796524 PBX1 PBX homeobox 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1317860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28566479 11796524 PBX1 PBX homeobox 1 gene DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay ISO RGD:1317860 D RGD:7240710 20190315 OMIM 11796524 PBX1 PBX homeobox 1 gene DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay ISO RGD:1317860 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | ClinVar Annotator: match by term: PBX1-related intellectual disability and pleiotropic developmental defects PMID:25741868|PMID:28492532|PMID:28566479|PMID:29036646|PMID:29226118|PMID:29966037|PMID:32860008 11796524 PBX1 PBX homeobox 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1317860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11796524 PBX1 PBX homeobox 1 gene DOID:1686 glaucoma ISO RGD:1308213 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (rat) PMID:28990066|REF_RGD_ID:155630605 11796524 PBX1 PBX homeobox 1 gene DOID:1686 glaucoma ISO RGD:1317860 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (human) PMID:28990066|REF_RGD_ID:155630605 11796524 PBX1 PBX homeobox 1 gene DOID:303 substance-related disorder ISO RGD:1317860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11796524 PBX1 PBX homeobox 1 gene DOID:3454 brain infarction ISO RGD:1308213 D RGD:9068941 20221027 RGD protein:altered expression:brain (rat) PMID:12161747|REF_RGD_ID:155630606 11796524 PBX1 PBX homeobox 1 gene DOID:630 genetic disease ISO RGD:1317860 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28566479|PMID:29036646 11796524 PBX1 PBX homeobox 1 gene DOID:8584 Burkitt lymphoma ISO RGD:1317860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17244677|PMID:1967982 11796524 PBX1 PBX homeobox 1 gene DOID:9003752 Persistent Truncus Arteriosus ISO RGD:1552910 D RGD:9068941 20221027 RGD PMID:18723445|REF_RGD_ID:155630610 11796524 PBX1 PBX homeobox 1 gene DOID:9008565 Congenital Heart Defects, Multiple Types ISO RGD:1552910 D RGD:9068941 20221027 RGD PMID:31625560|REF_RGD_ID:155630609 11796524 PBX1 PBX homeobox 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11796556 LOC100991181 olfactory receptor 52W1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1353462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11796556 LOC100991181 olfactory receptor 52W1 gene DOID:630 genetic disease ISO RGD:1353462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11796561 BTBD18 BTB domain containing 18 gene DOID:1059 intellectual disability ISO RGD:2923345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11796561 BTBD18 BTB domain containing 18 gene DOID:630 genetic disease ISO RGD:2923345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11796568 LOC100992822 histone H2A-Bbd type 2/3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1346656 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11796568 LOC100992822 histone H2A-Bbd type 2/3 gene DOID:0050476 Barth syndrome ISO RGD:1346656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11796568 LOC100992822 histone H2A-Bbd type 2/3 gene DOID:0050800 creatine transporter deficiency ISO RGD:1346656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11796568 LOC100992822 histone H2A-Bbd type 2/3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1346656 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11796568 LOC100992822 histone H2A-Bbd type 2/3 gene DOID:10588 adrenoleukodystrophy ISO RGD:1346656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11796568 LOC100992822 histone H2A-Bbd type 2/3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1346656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11796568 LOC100992822 histone H2A-Bbd type 2/3 gene DOID:12134 factor VIII deficiency ISO RGD:1346656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Factor VIII deficiency, congenital PMID:2105106 11796568 LOC100992822 histone H2A-Bbd type 2/3 gene DOID:12849 autistic disorder ISO RGD:1346656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11796568 LOC100992822 histone H2A-Bbd type 2/3 gene DOID:13628 favism ISO RGD:1346656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11796568 LOC100992822 histone H2A-Bbd type 2/3 gene DOID:2729 dyskeratosis congenita ISO RGD:1346656 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11796568 LOC100992822 histone H2A-Bbd type 2/3 gene DOID:607 paraplegia ISO RGD:1346656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11796568 LOC100992822 histone H2A-Bbd type 2/3 gene DOID:630 genetic disease ISO RGD:1346656 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11796568 LOC100992822 histone H2A-Bbd type 2/3 gene DOID:9002720 Splenomegaly ISO RGD:1346656 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11796573 ARF3 ADP ribosylation factor 3 gene DOID:1059 intellectual disability ISO RGD:1354397 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11796573 ARF3 ADP ribosylation factor 3 gene DOID:1682 congenital heart disease ISO RGD:1354397 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 11796573 ARF3 ADP ribosylation factor 3 gene DOID:1826 epilepsy ISO RGD:1354397 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11796573 ARF3 ADP ribosylation factor 3 gene DOID:543 dystonia ISO RGD:1354397 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868 11796573 ARF3 ADP ribosylation factor 3 gene DOID:9001510 Funnel Chest ISO RGD:1354397 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:25741868 11796587 SLC4A5 solute carrier family 4 member 5 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:731047 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11796587 SLC4A5 solute carrier family 4 member 5 gene DOID:543 dystonia ISO RGD:731047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11796587 SLC4A5 solute carrier family 4 member 5 gene DOID:630 genetic disease ISO RGD:731047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11796587 SLC4A5 solute carrier family 4 member 5 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:731047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11796622 NLGN3 neuroligin 3 gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:733571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe combined immunodeficiency PMID:28492532 11796622 NLGN3 neuroligin 3 gene DOID:0060041 autism spectrum disorder ISO RGD:733571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11796622 NLGN3 neuroligin 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11796622 NLGN3 neuroligin 3 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:733571 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 11796622 NLGN3 neuroligin 3 gene DOID:1059 intellectual disability ISO RGD:733571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25167861|PMID:25741868 11796622 NLGN3 neuroligin 3 gene DOID:11446 sciatic neuropathy ISO RGD:621119 D RGD:9068941 20200609 RGD mRNA:decreased expression:sciatic nerve PMID:17492651|REF_RGD_ID:9831149 11796622 NLGN3 neuroligin 3 gene DOID:12849 autistic disorder ISO RGD:733571 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 1 | ClinVar Annotator: match by term: Autistic behavior PMID:12669065|PMID:15150161|PMID:15152050|PMID:21681106|PMID:25741868|PMID:30208311|PMID:31184401|PMID:35012288 11796622 NLGN3 neuroligin 3 gene DOID:12849 autistic disorder susceptibility ISO RGD:733571 D RGD:7240710 20190502 OMIM 11796622 NLGN3 neuroligin 3 gene DOID:1921 Klinefelter syndrome ISO RGD:733571 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 11796622 NLGN3 neuroligin 3 gene DOID:630 genetic disease ISO RGD:733571 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16508939|PMID:23849776|PMID:25741868|PMID:28492532 11796622 NLGN3 neuroligin 3 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:733571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder 11796622 NLGN3 neuroligin 3 gene DOID:9007898 FG Syndrome 1 ISO RGD:733571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 11796645 DYNLL2 dynein light chain LC8-type 2 gene DOID:0050777 Joubert syndrome ISO RGD:730979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11796645 DYNLL2 dynein light chain LC8-type 2 gene DOID:1059 intellectual disability ISO RGD:730979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11796645 DYNLL2 dynein light chain LC8-type 2 gene DOID:630 genetic disease ISO RGD:730979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11796651 IL15RA interleukin 15 receptor subunit alpha gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1313009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11796651 IL15RA interleukin 15 receptor subunit alpha gene DOID:5419 schizophrenia ISO RGD:1313009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11796651 IL15RA interleukin 15 receptor subunit alpha gene DOID:630 genetic disease ISO RGD:1313009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11796651 IL15RA interleukin 15 receptor subunit alpha gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1313009 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 11796651 IL15RA interleukin 15 receptor subunit alpha gene DOID:9001488 Human Influenza ISO RGD:1313010 D RGD:9068941 20200609 RGD PMID:21098221|REF_RGD_ID:4994196 11796651 IL15RA interleukin 15 receptor subunit alpha gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1313010 D RGD:9068941 20200609 RGD PMID:17611121|REF_RGD_ID:5000755 11796678 OLIG3 oligodendrocyte transcription factor 3 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1314358 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 11796678 OLIG3 oligodendrocyte transcription factor 3 gene DOID:630 genetic disease ISO RGD:1314358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11796678 OLIG3 oligodendrocyte transcription factor 3 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1314358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection PMID:26642243|PMID:28492532|PMID:29572183|PMID:8960473|PMID:9806040 11796738 TGFBI transforming growth factor beta induced gene DOID:0060441 epithelial-stromal TGFBI dystrophy ISO RGD:1351420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epithelial-stromal TGFBI dystrophy PMID:10798644|PMID:11923233|PMID:23559853|PMID:25741868|PMID:28492532|PMID:9054935|PMID:9463327|PMID:9559741 11796738 TGFBI transforming growth factor beta induced gene DOID:0060444 granular corneal dystrophy 2 ISO RGD:1351420 D RGD:7240710 20180130 OMIM 11796738 TGFBI transforming growth factor beta induced gene DOID:0060444 granular corneal dystrophy 2 ISO RGD:1351420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Avellino corneal dystrophy | ClinVar Annotator: match by term: Granular corneal dystrophy type 2 PMID:10798644|PMID:11923233|PMID:15059726|PMID:16606891|PMID:23559853|PMID:25741868|PMID:26197481|PMID:28492532|PMID:34097874|PMID:9054935|PMID:9780098|PMID:9930165 11796738 TGFBI transforming growth factor beta induced gene DOID:0060447 epithelial basement membrane dystrophy ISO RGD:1351420 D RGD:7240710 20180130 OMIM 11796738 TGFBI transforming growth factor beta induced gene DOID:0060447 epithelial basement membrane dystrophy ISO RGD:1351420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epithelial basement membrane dystrophy PMID:16652336|PMID:19337156|PMID:25525159|PMID:28492532 11796738 TGFBI transforming growth factor beta induced gene DOID:0060453 Reis-Bucklers corneal dystrophy ISO RGD:1351420 D RGD:7240710 20180130 OMIM 11796738 TGFBI transforming growth factor beta induced gene DOID:0060453 Reis-Bucklers corneal dystrophy ISO RGD:1351420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Reis Bucklers dystrophy PMID:10660331|PMID:11146721|PMID:15885785|PMID:16606891|PMID:9780098|PMID:9930165 11796738 TGFBI transforming growth factor beta induced gene DOID:0060455 Thiel-Behnke corneal dystrophy ISO RGD:1351420 D RGD:7240710 20180130 OMIM 11796738 TGFBI transforming growth factor beta induced gene DOID:0060455 Thiel-Behnke corneal dystrophy ISO RGD:1351420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thiel-Behnke corneal dystrophy PMID:11923233|PMID:21135107|PMID:22355247|PMID:25741868|PMID:28492532|PMID:9054935|PMID:9780098 11796738 TGFBI transforming growth factor beta induced gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1351420 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11796738 TGFBI transforming growth factor beta induced gene DOID:0080530 granular corneal dystrophy 1 ISO RGD:1351420 D RGD:7240710 20180130 OMIM 11796738 TGFBI transforming growth factor beta induced gene DOID:0080530 granular corneal dystrophy 1 ISO RGD:1351420 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Groenouw corneal dystrophy type I PMID:11923233|PMID:25741868|PMID:9054935|PMID:9727509 11796738 TGFBI transforming growth factor beta induced gene DOID:12318 granular corneal dystrophy ISO RGD:1351420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granular corneal dystrophy 11796738 TGFBI transforming growth factor beta induced gene DOID:2566 corneal dystrophy ISO RGD:1351420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Corneal Dystrophy, Dominant | ClinVar Annotator: match by term: Corneal dystrophy PMID:10832717|PMID:11004271|PMID:11024425|PMID:11923233|PMID:12400061|PMID:15177960|PMID:16652336|PMID:16670477|PMID:16809844|PMID:19303004|PMID:19337156|PMID:21462384|PMID:21617751|PMID:21744490|PMID:23884333|PMID:24406863|PMID:24940934|PMID:25284770|PMID:25525159|PMID:25741868|PMID:25932442|PMID:26748743|PMID:26961680|PMID:28492532|PMID:9497262 11796738 TGFBI transforming growth factor beta induced gene DOID:557 kidney disease ISO RGD:620017 D RGD:9068941 20200609 RGD chronic cyclosporin A-induced nephropathy PMID:16308546|REF_RGD_ID:1599389 11796738 TGFBI transforming growth factor beta induced gene DOID:630 genetic disease ISO RGD:1351420 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11796738 TGFBI transforming growth factor beta induced gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351420 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18682491 11796738 TGFBI transforming growth factor beta induced gene DOID:9002165 Diabetic Nephropathies ISO RGD:620017 D RGD:9068941 20200609 RGD PMID:12911551|REF_RGD_ID:1304421 11796738 TGFBI transforming growth factor beta induced gene DOID:9003281 Spontaneous Abortions ISO RGD:1351420 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11796738 TGFBI transforming growth factor beta induced gene DOID:9004303 Tubulointerstitial Fibrosis ISO RGD:620017 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:15007308|REF_RGD_ID:1304308 11796738 TGFBI transforming growth factor beta induced gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11796738 TGFBI transforming growth factor beta induced gene DOID:9004484 Sepsis ISO RGD:1351420 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27887929 11796738 TGFBI transforming growth factor beta induced gene DOID:9006242 Lattice Corneal Dystrophy, Type IIIA ISO RGD:1351420 D RGD:7240710 20180130 OMIM 11796738 TGFBI transforming growth factor beta induced gene DOID:9006242 Lattice Corneal Dystrophy, Type IIIA ISO RGD:1351420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, lattice type 3A PMID:10832717|PMID:11004271|PMID:11024425|PMID:11923233|PMID:12400061|PMID:15790870|PMID:16809844|PMID:19337156|PMID:21462384|PMID:23884333|PMID:25741868|PMID:26748743|PMID:28492532|PMID:9054935|PMID:9497262|PMID:9727509 11796738 TGFBI transforming growth factor beta induced gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1351420 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11796738 TGFBI transforming growth factor beta induced gene DOID:9008869 Lattice Corneal Dystrophy Type 1 ISO RGD:1351420 D RGD:7240710 20180130 OMIM 11796738 TGFBI transforming growth factor beta induced gene DOID:9008869 Lattice Corneal Dystrophy Type 1 ISO RGD:1351420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lattice corneal dystrophy Type I PMID:10798644|PMID:11923233|PMID:15059726|PMID:23559853|PMID:25741868|PMID:26197481|PMID:28492532|PMID:34097874|PMID:9054935|PMID:9463327|PMID:9559741|PMID:9727509 11796759 NEU3 neuraminidase 3 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1347886 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11796759 NEU3 neuraminidase 3 gene DOID:1059 intellectual disability ISO RGD:1347886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11796759 NEU3 neuraminidase 3 gene DOID:630 genetic disease ISO RGD:1347886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11796759 NEU3 neuraminidase 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1347886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11796766 NUSAP1 nucleolar and spindle associated protein 1 gene DOID:0080457 microcephaly, seizures, and developmental delay ISO RGD:1313993 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay PMID:25741868 11796766 NUSAP1 nucleolar and spindle associated protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1313993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11796766 NUSAP1 nucleolar and spindle associated protein 1 gene DOID:630 genetic disease ISO RGD:1313993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11796766 NUSAP1 nucleolar and spindle associated protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1313993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11796766 NUSAP1 nucleolar and spindle associated protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 11796766 NUSAP1 nucleolar and spindle associated protein 1 gene DOID:9256 colorectal cancer ISO RGD:1313993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11796801 HDAC9 histone deacetylase 9 gene DOID:3525 middle cerebral artery infarction ISO RGD:1310748 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:23480850|REF_RGD_ID:9681449 11796801 HDAC9 histone deacetylase 9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11796801 HDAC9 histone deacetylase 9 gene DOID:630 genetic disease ISO RGD:1353912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11796801 HDAC9 histone deacetylase 9 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1353912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 11796801 HDAC9 histone deacetylase 9 gene DOID:9007096 Stroke ISO RGD:1353912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22306652 11796861 OPRPN opiorphin prepropeptide gene DOID:630 genetic disease ISO RGD:1351065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11796861 OPRPN opiorphin prepropeptide gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1351065 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11796871 HOXD1 homeobox D1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1319375 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11796871 HOXD1 homeobox D1 gene DOID:630 genetic disease ISO RGD:1319375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11796871 HOXD1 homeobox D1 gene DOID:9000641 Pain ISO RGD:1319375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21151121 11796871 HOXD1 homeobox D1 gene DOID:9002211 Hyperalgesia ISO RGD:1319375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21151121 11796871 HOXD1 homeobox D1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1319375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20852632 11796871 HOXD1 homeobox D1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 11796888 PEX13 peroxisomal biogenesis factor 13 gene DOID:0050444 infantile Refsum disease ISO RGD:1321726 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:25741868|PMID:28492532|PMID:33190326|PMID:35854306 11796888 PEX13 peroxisomal biogenesis factor 13 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1321726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10332040|PMID:10441568|PMID:19449432 11796888 PEX13 peroxisomal biogenesis factor 13 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1321726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) 11796888 PEX13 peroxisomal biogenesis factor 13 gene DOID:0080485 peroxisome biogenesis disorder 11A ISO RGD:1321726 D RGD:7240710 20180130 OMIM 11796888 PEX13 peroxisomal biogenesis factor 13 gene DOID:0080485 peroxisome biogenesis disorder 11A ISO RGD:1321726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) PMID:10332040|PMID:10441568|PMID:16006427|PMID:16199547|PMID:17041890|PMID:17576681|PMID:19449432|PMID:21031596|PMID:25741868|PMID:27827795|PMID:28492532|PMID:33190326|PMID:34055681|PMID:35854306|PMID:9480815|PMID:9536098 11796888 PEX13 peroxisomal biogenesis factor 13 gene DOID:10588 adrenoleukodystrophy ISO RGD:1321726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10441568 11796888 PEX13 peroxisomal biogenesis factor 13 gene DOID:630 genetic disease ISO RGD:1321726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11796888 PEX13 peroxisomal biogenesis factor 13 gene DOID:9005083 Peroxisome Biogenesis Disorder 11B ISO RGD:1321726 D RGD:7240710 20180130 OMIM 11796888 PEX13 peroxisomal biogenesis factor 13 gene DOID:9005083 Peroxisome Biogenesis Disorder 11B ISO RGD:1321726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11B PMID:10332040|PMID:10441568|PMID:16006427|PMID:17041890|PMID:21031596|PMID:25741868|PMID:27827795|PMID:28492532|PMID:33190326|PMID:35854306|PMID:9480815 11796888 PEX13 peroxisomal biogenesis factor 13 gene DOID:905 Zellweger syndrome ISO RGD:1321726 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:25741868|PMID:28492532|PMID:33190326|PMID:35854306 11796901 SYNPO synaptopodin gene DOID:0050851 glomerulosclerosis treatment ISO RGD:735344 D RGD:9068941 20201225 RGD PMID:22125642|REF_RGD_ID:40902998 11796901 SYNPO synaptopodin gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:735343 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11796901 SYNPO synaptopodin gene DOID:1184 nephrotic syndrome ISO RGD:735343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:33615071 11796901 SYNPO synaptopodin gene DOID:630 genetic disease ISO RGD:735343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11796901 SYNPO synaptopodin gene DOID:784 chronic kidney disease treatment ISO RGD:735343 D RGD:9068941 20221103 RGD human cells in rat model PMID:33298161|REF_RGD_ID:155631310 11796901 SYNPO synaptopodin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735343 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11796909 TNNT3 troponin T3, fast skeletal type gene DOID:0050646 distal arthrogryposis ISO RGD:737137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal | ClinVar Annotator: match by term: Distal arthrogryposis PMID:18414213|PMID:25741868|PMID:28492532 11796909 TNNT3 troponin T3, fast skeletal type gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11796909 TNNT3 troponin T3, fast skeletal type gene DOID:0080006 bone development disease ISO RGD:737137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868|PMID:28492532 11796909 TNNT3 troponin T3, fast skeletal type gene DOID:0080773 delta beta-thalassemia ISO RGD:737137 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11796909 TNNT3 troponin T3, fast skeletal type gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:737137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868|PMID:28492532 11796909 TNNT3 troponin T3, fast skeletal type gene DOID:0111599 distal arthrogryposis type 2B ISO RGD:737137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthyrgryposis, distal, type 2B PMID:10525521|PMID:12865991|PMID:19142688|PMID:21402185|PMID:25337069|PMID:25741868 11796909 TNNT3 troponin T3, fast skeletal type gene DOID:0111600 distal arthrogryposis type 2B1 ISO RGD:737137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 PMID:18414213|PMID:25741868|PMID:28492532 11796909 TNNT3 troponin T3, fast skeletal type gene DOID:0111601 distal arthrogryposis type 2B2 ISO RGD:737137 D RGD:7240710 20200228 OMIM 11796909 TNNT3 troponin T3, fast skeletal type gene DOID:0111601 distal arthrogryposis type 2B2 ISO RGD:737137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B2 PMID:10525521|PMID:12865991|PMID:19142688|PMID:21402185|PMID:25337069|PMID:25741868 11796909 TNNT3 troponin T3, fast skeletal type gene DOID:0111969 immunodeficiency 39 ISO RGD:737137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11796909 TNNT3 troponin T3, fast skeletal type gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:737137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11796909 TNNT3 troponin T3, fast skeletal type gene DOID:10907 microcephaly ISO RGD:737137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11796909 TNNT3 troponin T3, fast skeletal type gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:737137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11796909 TNNT3 troponin T3, fast skeletal type gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:737137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate PMID:25741868|PMID:28492532 11796909 TNNT3 troponin T3, fast skeletal type gene DOID:630 genetic disease ISO RGD:737137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:28492532 11796909 TNNT3 troponin T3, fast skeletal type gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:737137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11796944 LOC100972806 keratin, type I cuticular Ha7 gene DOID:630 genetic disease ISO RGD:1346996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11796955 EIF3M eukaryotic translation initiation factor 3 subunit M gene DOID:1059 intellectual disability ISO RGD:1607072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11796955 EIF3M eukaryotic translation initiation factor 3 subunit M gene DOID:630 genetic disease ISO RGD:1607072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11796970 LOC100974335 olfactory receptor 6A2 gene DOID:630 genetic disease ISO RGD:1605112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11796974 MAGI1 membrane associated guanylate kinase, WW and PDZ domain containing 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1322871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11796974 MAGI1 membrane associated guanylate kinase, WW and PDZ domain containing 1 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1322871 D RGD:9068941 20220708 RGD protein:increased expression:intrahepatic bile duct (human) PMID:30377796|REF_RGD_ID:152998946 11796974 MAGI1 membrane associated guanylate kinase, WW and PDZ domain containing 1 gene DOID:630 genetic disease ISO RGD:1322871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797035 YAE1 YAE1 maturation factor of ABCE1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11797035 YAE1 YAE1 maturation factor of ABCE1 gene DOID:630 genetic disease ISO RGD:1315329 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797055 SCGN secretagogin, EF-hand calcium binding protein gene DOID:630 genetic disease ISO RGD:1347901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797070 MRPL30 mitochondrial ribosomal protein L30 gene DOID:630 genetic disease ISO RGD:1317834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797083 KIF1C kinesin family member 1C gene DOID:0050753 cerebellar ataxia ISO RGD:731799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:32581362 11797083 KIF1C kinesin family member 1C gene DOID:0050941 spastic ataxia 2 ISO RGD:731799 D RGD:7240710 20180130 OMIM 11797083 KIF1C kinesin family member 1C gene DOID:0050941 spastic ataxia 2 ISO RGD:731799 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:17273843|PMID:17576681|PMID:24319291|PMID:24482476|PMID:24808017|PMID:25741868|PMID:26633545|PMID:28492532|PMID:28687974|PMID:28832565|PMID:29482223|PMID:30067756|PMID:32501971|PMID:9536098 11797083 KIF1C kinesin family member 1C gene DOID:0050952 spastic ataxia ISO RGD:731799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 11797083 KIF1C kinesin family member 1C gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:731799 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 11797083 KIF1C kinesin family member 1C gene DOID:1059 intellectual disability ISO RGD:731799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:32581362 11797083 KIF1C kinesin family member 1C gene DOID:10907 microcephaly ISO RGD:731799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11797083 KIF1C kinesin family member 1C gene DOID:2476 hereditary spastic paraplegia ISO RGD:731799 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17576681|PMID:24482476|PMID:25741868|PMID:26633545|PMID:28492532|PMID:28832565|PMID:29482223|PMID:9536098 11797083 KIF1C kinesin family member 1C gene DOID:630 genetic disease ISO RGD:731799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11797112 FAM107B family with sequence similarity 107 member B gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1346416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11797112 FAM107B family with sequence similarity 107 member B gene DOID:630 genetic disease ISO RGD:1346416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797132 CHGA chromogranin A gene DOID:0050771 pheochromocytoma ISO RGD:730836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11116123 11797132 CHGA chromogranin A gene DOID:0050771 pheochromocytoma disease_progression ISO RGD:730836 D RGD:9068941 20200609 RGD PMID:2189303|REF_RGD_ID:6906907 11797132 CHGA chromogranin A gene DOID:0080054 achondrogenesis type IA ISO RGD:730836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11797132 CHGA chromogranin A gene DOID:10283 prostate cancer susceptibility ISO RGD:730836 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E264D (human) PMID:20663522|REF_RGD_ID:6906901 11797132 CHGA chromogranin A gene DOID:10763 hypertension ISO RGD:10339 D RGD:9068941 20200609 RGD PMID:20729505|REF_RGD_ID:6906900 11797132 CHGA chromogranin A gene DOID:10763 hypertension ISO RGD:10339 D RGD:9068941 20200609 RGD protein:creased expression:adrenal gland PMID:10803489|REF_RGD_ID:6907055 11797132 CHGA chromogranin A gene DOID:10763 hypertension ISO RGD:2338 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:adrenal gland medulla, plasma PMID:10803489|REF_RGD_ID:6907055 11797132 CHGA chromogranin A gene DOID:10763 hypertension ISO RGD:730836 D RGD:9068941 20200609 RGD PMID:21061160|REF_RGD_ID:6906897 11797132 CHGA chromogranin A gene DOID:10763 hypertension no_association ISO RGD:730836 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter PMID:20113265|REF_RGD_ID:6906902 11797132 CHGA chromogranin A gene DOID:2986 IgA glomerulonephritis ISO RGD:730836 D RGD:9068941 20200609 RGD associated with Hypertension;DNA:polymorphism:promoter:-415T>C (human) PMID:20113265|REF_RGD_ID:6906902 11797132 CHGA chromogranin A gene DOID:3908 lung non-small cell carcinoma ISO RGD:730836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21595568 11797132 CHGA chromogranin A gene DOID:630 genetic disease ISO RGD:730836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797132 CHGA chromogranin A gene DOID:783 end stage renal disease ISO RGD:730836 D RGD:9068941 20200609 RGD associated with Hypertension;DNA:polymorphisms, haplotypes:promoter, 3' utr:multiple PMID:18235090|REF_RGD_ID:6906903 11797132 CHGA chromogranin A gene DOID:783 end stage renal disease ISO RGD:730836 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20730520|REF_RGD_ID:6906898 11797162 RASSF8 Ras association domain family member 8 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1318811 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 11797162 RASSF8 Ras association domain family member 8 gene DOID:5409 lung small cell carcinoma ISO RGD:1318811 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 11797162 RASSF8 Ras association domain family member 8 gene DOID:630 genetic disease ISO RGD:1318811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797171 SEMA3A semaphorin 3A gene DOID:0050834 CHARGE syndrome ISO RGD:730921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532 11797171 SEMA3A semaphorin 3A gene DOID:0090080 hypogonadotropic hypogonadism 16 with or without anosmia ISO RGD:730921 D RGD:7240710 20180130 OMIM 11797171 SEMA3A semaphorin 3A gene DOID:0090080 hypogonadotropic hypogonadism 16 with or without anosmia ISO RGD:730921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 16 with or without anosmia PMID:22416012|PMID:22927827|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32060892|PMID:32870266 11797171 SEMA3A semaphorin 3A gene DOID:0111586 Martsolf syndrome 1 ISO RGD:730921 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:22927827|PMID:25741868 11797171 SEMA3A semaphorin 3A gene DOID:13938 amenorrhea ISO RGD:730921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:22927827|PMID:28492532|PMID:32870266 11797171 SEMA3A semaphorin 3A gene DOID:1826 epilepsy ISO RGD:730921 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 11797171 SEMA3A semaphorin 3A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:730921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11797171 SEMA3A semaphorin 3A gene DOID:5419 schizophrenia ISO RGD:730921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11797171 SEMA3A semaphorin 3A gene DOID:630 genetic disease ISO RGD:730921 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11797171 SEMA3A semaphorin 3A gene DOID:9001239 Delayed Puberty ISO RGD:730921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Delayed puberty PMID:25636053|PMID:28492532 11797171 SEMA3A semaphorin 3A gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730921 D RGD:9068941 20210416 CTD CTD Direct Evidence: therapeutic PMID:33290778 11797199 RNF170 ring finger protein 170 gene DOID:0050951 hereditary ataxia ISO RGD:1615793 D RGD:9068941 20220825 MouseDO 11797199 RNF170 ring finger protein 170 gene DOID:0090039 torsion dystonia 6 ISO RGD:1352237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 11797199 RNF170 ring finger protein 170 gene DOID:0111170 autosomal dominant sensory ataxia 1 ISO RGD:1352237 D RGD:7240710 20180418 OMIM 11797199 RNF170 ring finger protein 170 gene DOID:0111170 autosomal dominant sensory ataxia 1 ISO RGD:1352237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant sensory ataxia 1 PMID:17190954|PMID:18414213|PMID:21115467|PMID:25741868|PMID:25882839|PMID:28492532|PMID:31589614|PMID:31636353|PMID:32943585|PMID:34420199 11797199 RNF170 ring finger protein 170 gene DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 ISO RGD:1352237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 PMID:28492532 11797199 RNF170 ring finger protein 170 gene DOID:0111959 immunodeficiency 15B ISO RGD:1352237 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 11797199 RNF170 ring finger protein 170 gene DOID:0112345 hereditary spastic paraplegia 85 ISO RGD:1352237 D RGD:7240710 20220112 OMIM 11797199 RNF170 ring finger protein 170 gene DOID:0112345 hereditary spastic paraplegia 85 ISO RGD:1352237 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 85, autosomal recessive PMID:25741868|PMID:31636353|PMID:35041108 11797199 RNF170 ring finger protein 170 gene DOID:607 paraplegia ISO RGD:1352237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:31636353 11797199 RNF170 ring finger protein 170 gene DOID:630 genetic disease ISO RGD:1352237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797199 RNF170 ring finger protein 170 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11797199 RNF170 ring finger protein 170 gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:1352237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:27726124 11797199 RNF170 ring finger protein 170 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1352237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 11797228 FAM83G family with sequence similarity 83 member G gene DOID:0050777 Joubert syndrome ISO RGD:1606850 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11797228 FAM83G family with sequence similarity 83 member G gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1606850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 11797228 FAM83G family with sequence similarity 83 member G gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1606850 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 11797228 FAM83G family with sequence similarity 83 member G gene DOID:12849 autistic disorder ISO RGD:1606850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11797228 FAM83G family with sequence similarity 83 member G gene DOID:3390 palmoplantar keratosis ISO RGD:12095288 D RGD:9068941 20211203 OMIA Hyperkeratosis, palmoplantar, FAM83G-related PMID:10701186|PMID:12828257|PMID:24832243|PMID:26747202|PMID:29963719|PMID:34796560 11797228 FAM83G family with sequence similarity 83 member G gene DOID:630 genetic disease ISO RGD:1606850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797228 FAM83G family with sequence similarity 83 member G gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1606850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 11797237 DNAJC7 DnaJ heat shock protein family (Hsp40) member C7 gene DOID:1826 epilepsy ISO RGD:1349384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 11797237 DNAJC7 DnaJ heat shock protein family (Hsp40) member C7 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1349384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 11797237 DNAJC7 DnaJ heat shock protein family (Hsp40) member C7 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1349384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11797237 DNAJC7 DnaJ heat shock protein family (Hsp40) member C7 gene DOID:630 genetic disease ISO RGD:1349384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797270 GALR2 galanin receptor 2 gene DOID:1470 major depressive disorder ISO RGD:733781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27940914 11797270 GALR2 galanin receptor 2 gene DOID:630 genetic disease ISO RGD:733781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797277 LRRC4 leucine rich repeat containing 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11797277 LRRC4 leucine rich repeat containing 4 gene DOID:630 genetic disease ISO RGD:1349330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797283 IL2RG interleukin 2 receptor subunit gamma gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:731533 D RGD:7240710 20190306 OMIM 11797283 IL2RG interleukin 2 receptor subunit gamma gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:731533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: X-linked severe combined immunodeficiency PMID:10444186|PMID:10784449|PMID:10792291|PMID:10794430|PMID:10794431|PMID:11129345|PMID:11213805|PMID:11260071|PMID:11874464|PMID:11961146|PMID:12070011|PMID:12126929|PMID:14722921|PMID:14966353|PMID:16199547|PMID:16227049|PMID:16293754|PMID:16760466|PMID:17576681|PMID:17598841|PMID:18615703|PMID:18641513|PMID:18728247|PMID:18941169|PMID:19398866|PMID:20301584|PMID:21184155|PMID:21732012|PMID:21865537|PMID:22039266|PMID:23374275|PMID:23683512|PMID:24534054|PMID:24612091|PMID:25042067|PMID:25326637|PMID:25741868|PMID:25843602|PMID:25869287|PMID:26525228|PMID:26547715|PMID:27484032|PMID:27566612|PMID:28109013|PMID:28359783|PMID:28492532|PMID:28747913|PMID:29658452|PMID:2984567|PMID:29948574|PMID:30622570|PMID:30778380|PMID:30850927|PMID:31024866|PMID:31799703|PMID:31965297|PMID:32265911|PMID:32499645|PMID:32888943|PMID:33412294|PMID:33628209|PMID:7557965|PMID:7632950|PMID:7668284|PMID:7860773|PMID:7883965|PMID:7973658|PMID:8027558|PMID:8088810|PMID:8298124|PMID:8299698|PMID:8401490|PMID:8462096|PMID:8522327|PMID:8541866|PMID:8557662|PMID:8605324|PMID:8712778|PMID:8781427|PMID:8900089|PMID:8961626|PMID:9049783|PMID:9058718|PMID:9150730|PMID:9150740|PMID:9399950|PMID:9536098|PMID:9633906|PMID:9885222 11797283 IL2RG interleukin 2 receptor subunit gamma gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11797283 IL2RG interleukin 2 receptor subunit gamma gene DOID:0080600 COVID-19 severity ISO RGD:731533 D RGD:9068941 20200625 RGD protein:increased expression:serum (human) PMID:32297828|REF_RGD_ID:32716368 11797283 IL2RG interleukin 2 receptor subunit gamma gene DOID:12849 autistic disorder ISO RGD:731533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11797283 IL2RG interleukin 2 receptor subunit gamma gene DOID:627 severe combined immunodeficiency ISO RGD:731533 D RGD:9068941 20200609 RGD X-linked SCID, OMIM:300400 PMID:7557965|REF_RGD_ID:1600009 11797283 IL2RG interleukin 2 receptor subunit gamma gene DOID:628 combined T cell and B cell immunodeficiency ISO RGD:731533 D RGD:7240710 20180130 OMIM 11797283 IL2RG interleukin 2 receptor subunit gamma gene DOID:628 combined T cell and B cell immunodeficiency ISO RGD:731533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency, X-linked PMID:10792291|PMID:10794430|PMID:10794431|PMID:11129345|PMID:12126929|PMID:14966353|PMID:16199547|PMID:16227049|PMID:18641513|PMID:20301584|PMID:21184155|PMID:22039266|PMID:23683512|PMID:24534054|PMID:25042067|PMID:25741868|PMID:25869287|PMID:28492532|PMID:28747913|PMID:29948574|PMID:30622570|PMID:30778380|PMID:31799703|PMID:31965297|PMID:32499645|PMID:33628209|PMID:7557965|PMID:7632950|PMID:7668284|PMID:7883965|PMID:7973658|PMID:8088810|PMID:9049783|PMID:9058718|PMID:9399950|PMID:9633906 11797283 IL2RG interleukin 2 receptor subunit gamma gene DOID:630 genetic disease ISO RGD:731533 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10794431|PMID:16227049|PMID:20301584|PMID:23683512|PMID:25042067|PMID:25741868|PMID:28492532|PMID:29948574|PMID:31965297|PMID:7557965|PMID:7668284|PMID:9399950 11797283 IL2RG interleukin 2 receptor subunit gamma gene DOID:8541 Sezary's disease ISO RGD:731533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551670 11797283 IL2RG interleukin 2 receptor subunit gamma gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11797283 IL2RG interleukin 2 receptor subunit gamma gene DOID:9004654 Immune Deficiency Disease ISO RGD:621466 D RGD:9068941 20200609 RGD PMID:29688994|REF_RGD_ID:13628403 11797283 IL2RG interleukin 2 receptor subunit gamma gene DOID:9007898 FG Syndrome 1 ISO RGD:731533 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 11797300 ZNF254 zinc finger protein 254 gene DOID:630 genetic disease ISO RGD:1350215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797306 RUVBL2 RuvB like AAA ATPase 2 gene DOID:0111076 progressive familial heart block type IB ISO RGD:1315165 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:28492532 11797306 RUVBL2 RuvB like AAA ATPase 2 gene DOID:630 genetic disease ISO RGD:1315165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797330 APOH apolipoprotein H gene DOID:0060903 thrombosis ISO RGD:1310625 D RGD:9068941 20200609 RGD PMID:24642748|REF_RGD_ID:10054118 11797330 APOH apolipoprotein H gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1321637 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 11797330 APOH apolipoprotein H gene DOID:2349 arteriosclerosis ISO RGD:1321637 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:6613192|REF_RGD_ID:2313992 11797330 APOH apolipoprotein H gene DOID:2988 antiphospholipid syndrome ISO RGD:1321637 D RGD:9068941 20200609 RGD PMID:24642748|REF_RGD_ID:10054118 11797330 APOH apolipoprotein H gene DOID:341 peripheral vascular disease ISO RGD:1321637 D RGD:9068941 20200609 RGD PMID:17626983|REF_RGD_ID:2313983 11797330 APOH apolipoprotein H gene DOID:4449 macular retinal edema ISO RGD:1321637 D RGD:9068941 20200609 RGD associated with Proliferative Diabetic Retinopathy;protein:decreased expression:vitreous: PMID:16080911|REF_RGD_ID:2315548 11797330 APOH apolipoprotein H gene DOID:5844 myocardial infarction ISO RGD:1310625 D RGD:9068941 20200609 RGD PMID:12826288|REF_RGD_ID:10054111 11797330 APOH apolipoprotein H gene DOID:5844 myocardial infarction ISO RGD:1321637 D RGD:9068941 20200609 RGD PMID:15322656|REF_RGD_ID:2313985 11797330 APOH apolipoprotein H gene DOID:630 genetic disease ISO RGD:1321637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797330 APOH apolipoprotein H gene DOID:8947 diabetic retinopathy ISO RGD:1321637 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor PMID:18695102|REF_RGD_ID:2313982 11797330 APOH apolipoprotein H gene DOID:9000888 Pregnancy in Diabetics ISO RGD:1321637 D RGD:9068941 20200609 RGD PMID:11795690|REF_RGD_ID:2313988 11797330 APOH apolipoprotein H gene DOID:9002165 Diabetic Nephropathies ISO RGD:1321637 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum PMID:11302005|REF_RGD_ID:2313989 11797330 APOH apolipoprotein H gene DOID:9002231 Fetal Growth Retardation ISO RGD:1321638 D RGD:9068941 20200609 RGD PMID:24642748|REF_RGD_ID:10054118 11797330 APOH apolipoprotein H gene DOID:9003002 Fetal Resorption ISO RGD:1321638 D RGD:9068941 20200609 RGD PMID:24642748|REF_RGD_ID:10054118 11797330 APOH apolipoprotein H gene DOID:9007096 Stroke ISO RGD:1321637 D RGD:9068941 20200609 RGD PMID:14595478|REF_RGD_ID:2313986 11797330 APOH apolipoprotein H gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1310625 D RGD:9068941 20200609 RGD mRNA:increased expression:plasma: PMID:23288050|REF_RGD_ID:10054107 11797330 APOH apolipoprotein H gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321637 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 11797330 APOH apolipoprotein H gene DOID:9007571 Hyperlipoproteinemias ISO RGD:1321637 D RGD:9068941 20200609 RGD PMID:6613192|REF_RGD_ID:2313992 11797330 APOH apolipoprotein H gene DOID:9351 diabetes mellitus ISO RGD:1321637 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:18695102|REF_RGD_ID:2313982 11797330 APOH apolipoprotein H gene DOID:9351 diabetes mellitus ISO RGD:1321637 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:9377806|REF_RGD_ID:2313991 11797330 APOH apolipoprotein H gene DOID:9352 type 2 diabetes mellitus ISO RGD:1321637 D RGD:9068941 20200609 RGD PMID:16126948|REF_RGD_ID:2313984 11797330 APOH apolipoprotein H gene DOID:9744 type 1 diabetes mellitus ISO RGD:1321638 D RGD:9068941 20200609 RGD PMID:9472678|REF_RGD_ID:2313990 11797342 PNLIPRP3 pancreatic lipase related protein 3 gene DOID:630 genetic disease ISO RGD:1353570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797358 TSPAN13 tetraspanin 13 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11797358 TSPAN13 tetraspanin 13 gene DOID:630 genetic disease ISO RGD:1323423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797368 TM4SF19 transmembrane 4 L six family member 19 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1605592 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 11797368 TM4SF19 transmembrane 4 L six family member 19 gene DOID:12849 autistic disorder ISO RGD:1605592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11797368 TM4SF19 transmembrane 4 L six family member 19 gene DOID:5419 schizophrenia ISO RGD:1605592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11797368 TM4SF19 transmembrane 4 L six family member 19 gene DOID:630 genetic disease ISO RGD:1605592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797379 PLAG1 PLAG1 zinc finger gene DOID:1059 intellectual disability ISO RGD:1313225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11797379 PLAG1 PLAG1 zinc finger gene DOID:452 pleomorphic adenoma ISO RGD:1313225 D RGD:7240710 20180130 OMIM 11797379 PLAG1 PLAG1 zinc finger gene DOID:630 genetic disease ISO RGD:1313225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797379 PLAG1 PLAG1 zinc finger gene DOID:9002587 Silver-Russell Syndrome 4 ISO RGD:1313225 D RGD:7240710 20200701 OMIM 11797379 PLAG1 PLAG1 zinc finger gene DOID:9002587 Silver-Russell Syndrome 4 ISO RGD:1313225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Silver-russell syndrome 4 PMID:25741868|PMID:28796236 11797379 PLAG1 PLAG1 zinc finger gene DOID:9006311 Lipoblastoma ISO RGD:1313225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16308870 11797379 PLAG1 PLAG1 zinc finger gene DOID:9007070 Silver-Russell Syndrome 1 ISO RGD:1313225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 1 PMID:28796236 11797400 KMT2D lysine methyltransferase 2D gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1350607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21804550 11797400 KMT2D lysine methyltransferase 2D gene DOID:0050834 CHARGE syndrome ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:29300383 11797400 KMT2D lysine methyltransferase 2D gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:1350607 D RGD:9068941 20211119 RGD PMID:31660637|REF_RGD_ID:150521713 11797400 KMT2D lysine methyltransferase 2D gene DOID:0050873 follicular lymphoma ISO RGD:1350607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 11797400 KMT2D lysine methyltransferase 2D gene DOID:0060041 autism spectrum disorder ISO RGD:1350607 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11797400 KMT2D lysine methyltransferase 2D gene DOID:0060058 lymphoma ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoma 11797400 KMT2D lysine methyltransferase 2D gene DOID:0060473 Kabuki syndrome ISO RGD:1350607 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki syndrome | ClinVar Annotator: match by term: Niikawa-Kuroki syndrome PMID:12482968|PMID:14608645|PMID:14699623|PMID:16199547|PMID:16603732|PMID:17576681|PMID:18414213|PMID:19625956|PMID:20711175|PMID:2071175|PMID:21280141|PMID:21607748|PMID:21658225|PMID:21671394|PMID:22126750|PMID:22304445|PMID:22740433|PMID:22786791|PMID:23320472|PMID:23757202|PMID:23913813|PMID:24033266|PMID:24311525|PMID:24633898|PMID:24728327|PMID:24739679|PMID:25142838|PMID:25281733|PMID:25741868|PMID:25755104|PMID:25896430|PMID:25972376|PMID:26049589|PMID:26194542|PMID:26300940|PMID:26467025|PMID:26512256|PMID:26785492|PMID:26898171|PMID:26938784|PMID:27257180|PMID:27302555|PMID:27353043|PMID:27568880|PMID:27573763|PMID:27620904|PMID:27778401|PMID:27991736|PMID:28256057|PMID:28295206|PMID:28475860|PMID:28492532|PMID:28884889|PMID:28884922|PMID:28973083|PMID:29168297|PMID:29255178|PMID:29304373|PMID:29321794|PMID:29450879|PMID:29453417|PMID:29536651|PMID:29725259|PMID:29846842|PMID:29907798|PMID:30107592|PMID:30143558|PMID:30459467|PMID:30578106|PMID:3067577|PMID:30950893|PMID:31363182|PMID:31624253|PMID:31654559|PMID:31727177|PMID:31883305|PMID:31935506|PMID:31949313|PMID:31981491|PMID:32037394|PMID:32124548|PMID:32135276|PMID:32170002|PMID:32441320|PMID:32803813|PMID:33084842|PMID:33794347|PMID:36672956|PMID:3913813|PMID:9285441|PMID:9536098 11797400 KMT2D lysine methyltransferase 2D gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:27799067 11797400 KMT2D lysine methyltransferase 2D gene DOID:0070056 autosomal dominant intellectual developmental disorder 26 ISO RGD:1350607 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder due to AUTS2 deficiency PMID:25741868 11797400 KMT2D lysine methyltransferase 2D gene DOID:0080205 CAKUT ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 11797400 KMT2D lysine methyltransferase 2D gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1350607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 11797400 KMT2D lysine methyltransferase 2D gene DOID:10283 prostate cancer ISO RGD:1350607 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland (human) PMID:24200674|REF_RGD_ID:9587761 11797400 KMT2D lysine methyltransferase 2D gene DOID:10534 stomach cancer disease_progression ISO RGD:1350607 D RGD:9068941 20211119 RGD protein:increased expression:stomach PMID:30177394|REF_RGD_ID:150521710 11797400 KMT2D lysine methyltransferase 2D gene DOID:1059 intellectual disability ISO RGD:1350607 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:31846209 11797400 KMT2D lysine methyltransferase 2D gene DOID:10907 microcephaly ISO RGD:1350607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:21671394|PMID:22126750|PMID:25741868|PMID:28492532|PMID:30107592 11797400 KMT2D lysine methyltransferase 2D gene DOID:10941 intracranial aneurysm susceptibility ISO RGD:1350607 D RGD:9068941 20221013 RGD DNA:SNP: :rs3782356(human) PMID:30121816|REF_RGD_ID:155582216 11797400 KMT2D lysine methyltransferase 2D gene DOID:11054 urinary bladder cancer ISO RGD:1350607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121791 11797400 KMT2D lysine methyltransferase 2D gene DOID:11832 visual epilepsy ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:25741868 11797400 KMT2D lysine methyltransferase 2D gene DOID:12336 male infertility ISO RGD:1350607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19348672 11797400 KMT2D lysine methyltransferase 2D gene DOID:1324 lung cancer ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:25741868 11797400 KMT2D lysine methyltransferase 2D gene DOID:1520 colon carcinoma ISO RGD:1350607 D RGD:9068941 20211119 RGD protein:increased expression:colon PMID:20433758|REF_RGD_ID:150523761 11797400 KMT2D lysine methyltransferase 2D gene DOID:1612 breast cancer ISO RGD:1350607 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast (human) PMID:23754336|REF_RGD_ID:9588236 11797400 KMT2D lysine methyltransferase 2D gene DOID:1826 epilepsy ISO RGD:1350607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 11797400 KMT2D lysine methyltransferase 2D gene DOID:2785 Dandy-Walker syndrome ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:25741868 11797400 KMT2D lysine methyltransferase 2D gene DOID:3070 high grade glioma ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:25741868 11797400 KMT2D lysine methyltransferase 2D gene DOID:3459 breast carcinoma ISO RGD:1350607 D RGD:9068941 20211119 RGD protein:increased expression:cytoplasm, breast PMID:20433758|REF_RGD_ID:150523761 11797400 KMT2D lysine methyltransferase 2D gene DOID:3565 meningioma disease_progression ISO RGD:1350607 D RGD:9068941 20221013 RGD PMID:26240495|REF_RGD_ID:155582218 11797400 KMT2D lysine methyltransferase 2D gene DOID:3717 gastric adenocarcinoma ISO RGD:1350607 D RGD:9068941 20211119 RGD PMID:30177394|REF_RGD_ID:150521710 11797400 KMT2D lysine methyltransferase 2D gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1350607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 11797400 KMT2D lysine methyltransferase 2D gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1350607 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:25151357|REF_RGD_ID:9588233 11797400 KMT2D lysine methyltransferase 2D gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1350607 D RGD:9068941 20211119 RGD mRNA:increased expression:esophagus PMID:29532228|REF_RGD_ID:150521712 11797400 KMT2D lysine methyltransferase 2D gene DOID:3907 lung squamous cell carcinoma ISO RGD:1350607 D RGD:9068941 20211119 RGD PMID:24323028|REF_RGD_ID:150523770 11797400 KMT2D lysine methyltransferase 2D gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:1350607 D RGD:9068941 20211119 RGD PMID:28177435|PMID:30885352|REF_RGD_ID:150523776|REF_RGD_ID:150523777 11797400 KMT2D lysine methyltransferase 2D gene DOID:3908 lung non-small cell carcinoma ISO RGD:1350607 D RGD:9068941 20211119 RGD DNA, protein:missense mutations, nonsense mutations, frameshift mutation, increased expression:lung PMID:25112956|REF_RGD_ID:150523769 11797400 KMT2D lysine methyltransferase 2D gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1350607 D RGD:9068941 20211119 RGD PMID:29627316|PMID:33665490|REF_RGD_ID:150523767|REF_RGD_ID:150523771 11797400 KMT2D lysine methyltransferase 2D gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1350607 D RGD:9068941 20211119 RGD associated with familial adenomatous polyposis;DNA:missense mutations, nonsense mutation PMID:32024448|REF_RGD_ID:150523759 11797400 KMT2D lysine methyltransferase 2D gene DOID:4435 cavernous sinus meningioma ISO RGD:1350607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cavernous sinus meningioma PMID:21671394|PMID:22126750|PMID:28492532 11797400 KMT2D lysine methyltransferase 2D gene DOID:5409 lung small cell carcinoma ISO RGD:1350607 D RGD:9068941 20211119 RGD PMID:28007623|PMID:29627316|REF_RGD_ID:150523766|REF_RGD_ID:150523767 11797400 KMT2D lysine methyltransferase 2D gene DOID:5409 lung small cell carcinoma ISO RGD:1350607 D RGD:9068941 20211119 RGD DNA:missense mutations, insertion/deletion:plasma PMID:29748005|REF_RGD_ID:127285383 11797400 KMT2D lysine methyltransferase 2D gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:1350607 D RGD:9068941 20211119 RGD PMID:27873319|REF_RGD_ID:150523768 11797400 KMT2D lysine methyltransferase 2D gene DOID:630 genetic disease ISO RGD:1350607 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11526114|PMID:11573085|PMID:12482968|PMID:14608645|PMID:14699623|PMID:15161914|PMID:16199547|PMID:16603732|PMID:18414213|PMID:19625956|PMID:20711175|PMID:21280141|PMID:21658225|PMID:21671394|PMID:22048023|PMID:22126750|PMID:22304445|PMID:22434255|PMID:23045699|PMID:23320472|PMID:23913813|PMID:24550110|PMID:24633898|PMID:24728327|PMID:24739679|PMID:25142838|PMID:25281733|PMID:25741868|PMID:25755104|PMID:25972376|PMID:26049589|PMID:26194542|PMID:26300940|PMID:26320581|PMID:26467025|PMID:26898171|PMID:26938784|PMID:27302555|PMID:27411375|PMID:27568880|PMID:27573763|PMID:27618451|PMID:27778401|PMID:27991736|PMID:28256057|PMID:28295206|PMID:28492532|PMID:28884889|PMID:28884922|PMID:29089047|PMID:29453417|PMID:29536651|PMID:30107592|PMID:30459467|PMID:3067577|PMID:31727177|PMID:31846209|PMID:31883305|PMID:32135276|PMID:32803813|PMID:34232366|PMID:9285441 11797400 KMT2D lysine methyltransferase 2D gene DOID:8541 Sezary's disease ISO RGD:1350607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 11797400 KMT2D lysine methyltransferase 2D gene DOID:9000081 Lymphatic Metastasis ISO RGD:1350607 D RGD:9068941 20211119 RGD associated with stomach cancer PMID:30177394|REF_RGD_ID:150521710 11797400 KMT2D lysine methyltransferase 2D gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1350607 D RGD:9068941 20221013 RGD associated with colorectal cancer;DNA:mutations:: PMID:27875625|REF_RGD_ID:155582219 11797400 KMT2D lysine methyltransferase 2D gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1350607 D RGD:7240710 20191225 OMIM 11797400 KMT2D lysine methyltransferase 2D gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1350607 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:16199547|PMID:17576681|PMID:18414213|PMID:19625956|PMID:20711175|PMID:2071175|PMID:21280141|PMID:21607748|PMID:21658225|PMID:21671394|PMID:21766738|PMID:22126750|PMID:22434255|PMID:22786791|PMID:23320472|PMID:23757202|PMID:23913813|PMID:24033266|PMID:24633898|PMID:24728327|PMID:24739679|PMID:24759409|PMID:25142838|PMID:25281733|PMID:25326635|PMID:25326637|PMID:25741868|PMID:25755104|PMID:25896430|PMID:25972376|PMID:26300940|PMID:26467025|PMID:26512256|PMID:26785492|PMID:26938784|PMID:27257180|PMID:27302555|PMID:27353043|PMID:27573763|PMID:27620904|PMID:28256057|PMID:28295206|PMID:28475860|PMID:28492532|PMID:28884922|PMID:28973083|PMID:29089047|PMID:29168297|PMID:29255178|PMID:29300383|PMID:29304373|PMID:29389947|PMID:29450879|PMID:29453417|PMID:30107592|PMID:30143558|PMID:30459467|PMID:30950893|PMID:31282990|PMID:31395954|PMID:31624253|PMID:31727177|PMID:31846209|PMID:31883305|PMID:31949313|PMID:32037394|PMID:32083401|PMID:32135276|PMID:32803813|PMID:36672956|PMID:3913813|PMID:9536098 11797400 KMT2D lysine methyltransferase 2D gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11797400 KMT2D lysine methyltransferase 2D gene DOID:9003879 Vein of Galen Aneurysm ISO RGD:1350607 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galen vein aneurysm PMID:28492532|PMID:30578106 11797400 KMT2D lysine methyltransferase 2D gene DOID:9004240 Phyllodes Tumor ISO RGD:1350607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 11797400 KMT2D lysine methyltransferase 2D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350607 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11797400 KMT2D lysine methyltransferase 2D gene DOID:9004521 Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures ISO RGD:1350607 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures PMID:25741868 11797400 KMT2D lysine methyltransferase 2D gene DOID:9005985 Rubinstein Taybi like Syndrome ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rubinstein Taybi like syndrome PMID:30806792 11797400 KMT2D lysine methyltransferase 2D gene DOID:9006086 Intervertebral Disc Displacement severity ISO RGD:1350607 D RGD:9068941 20221020 RGD PMID:32599142|REF_RGD_ID:155598599 11797400 KMT2D lysine methyltransferase 2D gene DOID:9006194 Complement Component C1s Deficiency ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complement component C1s deficiency PMID:25741868 11797400 KMT2D lysine methyltransferase 2D gene DOID:9006534 Nervous System Malformations ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11797400 KMT2D lysine methyltransferase 2D gene DOID:9006778 Carotid Atherosclerosis severity ISO RGD:1350607 D RGD:9068941 20221013 RGD PMID:26764138|REF_RGD_ID:155582215 11797400 KMT2D lysine methyltransferase 2D gene DOID:9006871 BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME ISO RGD:1350607 D RGD:7240710 20230505 OMIM 11797400 KMT2D lysine methyltransferase 2D gene DOID:9006871 BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME ISO RGD:1350607 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome | ClinVar Annotator: match by term: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome PMID:12002153|PMID:25590979|PMID:25741868|PMID:28492532|PMID:31949313|PMID:32083401 11797400 KMT2D lysine methyltransferase 2D gene DOID:9008939 Breast Neoplasms ISO RGD:1350607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 11797400 KMT2D lysine methyltransferase 2D gene DOID:903 gastrointestinal lymphoma disease_progression ISO RGD:1350607 D RGD:9068941 20211119 RGD PMID:26722499|REF_RGD_ID:11553660 11797400 KMT2D lysine methyltransferase 2D gene DOID:9352 type 2 diabetes mellitus ISO RGD:1319223 D RGD:9068941 20200609 RGD PMID:23826075|REF_RGD_ID:9588237 11797400 KMT2D lysine methyltransferase 2D gene DOID:9538 multiple myeloma ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma PMID:25326635|PMID:25741868 11797400 KMT2D lysine methyltransferase 2D gene DOID:9574 choanal atresia ISO RGD:1350607 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Choanal atresia PMID:25741868|PMID:31395954 11797461 AQP5 aquaporin 5 gene DOID:0111707 Bothnian type palmoplantar keratoderma ISO RGD:70371 D RGD:7240710 20180130 OMIM 11797461 AQP5 aquaporin 5 gene DOID:0111707 Bothnian type palmoplantar keratoderma ISO RGD:70371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma, Bothnian type PMID:23830519|PMID:25741868|PMID:27255181|PMID:28492532|PMID:34298581|PMID:7531539 11797461 AQP5 aquaporin 5 gene DOID:10140 dry eye syndrome ISO RGD:10184 D RGD:9068941 20220825 MouseDO 11797461 AQP5 aquaporin 5 gene DOID:11155 hypohidrosis ISO RGD:10184 D RGD:9068941 20200609 RGD PMID:11773623|REF_RGD_ID:70240 11797461 AQP5 aquaporin 5 gene DOID:2316 brain ischemia ISO RGD:2144 D RGD:9068941 20200609 RGD PMID:19616516|REF_RGD_ID:5490152 11797461 AQP5 aquaporin 5 gene DOID:630 genetic disease ISO RGD:70371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11797461 AQP5 aquaporin 5 gene DOID:9004610 Acute Lung Injury ISO RGD:2144 D RGD:9068941 20200609 RGD associated with Disseminated Intravascular Coagulation;mRNA,protein:decreased expression:lung: PMID:24806323|REF_RGD_ID:11553933 11797461 AQP5 aquaporin 5 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:70371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17245593|PMID:17270560 11797470 LOC100996092 olfactory receptor 1Q1 gene DOID:630 genetic disease ISO RGD:1345044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797476 CLDN19 claudin 19 gene DOID:0060880 renal hypomagnesemia 3 ISO RGD:1312766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive 11797476 CLDN19 claudin 19 gene DOID:0060881 renal hypomagnesemia 5 with ocular involvement ISO RGD:1312766 D RGD:7240710 20180130 OMIM 11797476 CLDN19 claudin 19 gene DOID:0060881 renal hypomagnesemia 5 with ocular involvement ISO RGD:1312766 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement PMID:17033971|PMID:18188451|PMID:22422540|PMID:23301036|PMID:25366522|PMID:25410674|PMID:25741868|PMID:27530400|PMID:28492532|PMID:28893421|PMID:33025205|PMID:33532864|PMID:34805638 11797476 CLDN19 claudin 19 gene DOID:0060882 renal hypomagnesemia 4 ISO RGD:1312766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive 11797476 CLDN19 claudin 19 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11797476 CLDN19 claudin 19 gene DOID:12679 nephrocalcinosis ISO RGD:1312766 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:25741868|PMID:28893421|PMID:33025205|PMID:34805638 11797476 CLDN19 claudin 19 gene DOID:630 genetic disease ISO RGD:1312766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11797538 SIK1 salt inducible kinase 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:69451 D RGD:7240710 20180130 OMIM 11797538 SIK1 salt inducible kinase 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:69451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:15511237|PMID:17576681|PMID:25741868|PMID:25839329|PMID:26467025|PMID:26567857|PMID:27966542|PMID:28492532|PMID:31780880|PMID:8596935|PMID:9536098 11797538 SIK1 salt inducible kinase 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:69451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11797538 SIK1 salt inducible kinase 1 gene DOID:12849 autistic disorder ISO RGD:69451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11797538 SIK1 salt inducible kinase 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:69451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16243910 11797538 SIK1 salt inducible kinase 1 gene DOID:1826 epilepsy ISO RGD:69451 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 11797538 SIK1 salt inducible kinase 1 gene DOID:630 genetic disease ISO RGD:69451 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15511237|PMID:25741868|PMID:26467025|PMID:26567857|PMID:28492532 11797538 SIK1 salt inducible kinase 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:69451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11797538 SIK1 salt inducible kinase 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:69451 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11797538 SIK1 salt inducible kinase 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:69451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 11797538 SIK1 salt inducible kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11797538 SIK1 salt inducible kinase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:69451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11797538 SIK1 salt inducible kinase 1 gene DOID:9263 homocystinuria ISO RGD:69451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11797538 SIK1 salt inducible kinase 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:69451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11797561 GNAL G protein subunit alpha L gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1349997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11797561 GNAL G protein subunit alpha L gene DOID:0080855 Parkinsonism ISO RGD:69021 D RGD:9068941 20200609 RGD PMID:22539851|REF_RGD_ID:13513924 11797561 GNAL G protein subunit alpha L gene DOID:0081292 traumatic brain injury ISO RGD:2715 D RGD:9068941 20200609 RGD PMID:29215295|REF_RGD_ID:13513923 11797561 GNAL G protein subunit alpha L gene DOID:0090055 dystonia 25 ISO RGD:1349997 D RGD:7240710 20180130 OMIM 11797561 GNAL G protein subunit alpha L gene DOID:0090055 dystonia 25 ISO RGD:1349997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia 25 PMID:23222958|PMID:23449625|PMID:23759320|PMID:24408567|PMID:25741868|PMID:26506956|PMID:27123488|PMID:28492532|PMID:30605297 11797561 GNAL G protein subunit alpha L gene DOID:1059 intellectual disability ISO RGD:1349997 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11797561 GNAL G protein subunit alpha L gene DOID:543 dystonia ISO RGD:1349997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:17576681|PMID:23222958|PMID:23759320|PMID:24151159|PMID:24405754|PMID:24408567|PMID:24500857|PMID:24535567|PMID:24729450|PMID:25741868|PMID:25817843|PMID:26506956|PMID:27123488|PMID:28492532|PMID:30605297|PMID:31731261|PMID:9536098 11797561 GNAL G protein subunit alpha L gene DOID:630 genetic disease ISO RGD:1349997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11797561 GNAL G protein subunit alpha L gene DOID:9001722 Dysarthria ISO RGD:1349997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysarthria PMID:32581362 11797583 NAA60 N-alpha-acetyltransferase 60, NatF catalytic subunit gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11797583 NAA60 N-alpha-acetyltransferase 60, NatF catalytic subunit gene DOID:1826 epilepsy ISO RGD:1605347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11797583 NAA60 N-alpha-acetyltransferase 60, NatF catalytic subunit gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605347 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11797583 NAA60 N-alpha-acetyltransferase 60, NatF catalytic subunit gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1605347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 11797583 NAA60 N-alpha-acetyltransferase 60, NatF catalytic subunit gene DOID:630 genetic disease ISO RGD:1605347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797610 SLC26A11 solute carrier family 26 member 11 gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1314648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:28492532 11797610 SLC26A11 solute carrier family 26 member 11 gene DOID:630 genetic disease ISO RGD:1314648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797610 SLC26A11 solute carrier family 26 member 11 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1314648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 11797645 TET3 tet methylcytosine dioxygenase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:2291813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25290267 11797645 TET3 tet methylcytosine dioxygenase 3 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:2291813 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11797645 TET3 tet methylcytosine dioxygenase 3 gene DOID:0080134 multiple mitochondrial dysfunctions syndrome 2 ISO RGD:2291813 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 2 11797645 TET3 tet methylcytosine dioxygenase 3 gene DOID:1059 intellectual disability ISO RGD:2291813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849|PMID:31928709 11797645 TET3 tet methylcytosine dioxygenase 3 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:2291813 D RGD:9068941 20210917 RGD mRNA:decreased expression:esophagus squamous epithelium (human) PMID:27050164|REF_RGD_ID:150429668 11797645 TET3 tet methylcytosine dioxygenase 3 gene DOID:543 dystonia ISO RGD:2291813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11797645 TET3 tet methylcytosine dioxygenase 3 gene DOID:630 genetic disease ISO RGD:2291813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:31928709 11797645 TET3 tet methylcytosine dioxygenase 3 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:2291813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11797645 TET3 tet methylcytosine dioxygenase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2291813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11797645 TET3 tet methylcytosine dioxygenase 3 gene DOID:9006264 Beck-Fahrner Syndrome ISO RGD:2291813 D RGD:7240710 20200617 OMIM 11797645 TET3 tet methylcytosine dioxygenase 3 gene DOID:9006264 Beck-Fahrner Syndrome ISO RGD:2291813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Beck-Fahrner syndrome | ClinVar Annotator: match by term: TET3 deficiency PMID:25741868|PMID:28492532|PMID:30167849|PMID:31928709 11797645 TET3 tet methylcytosine dioxygenase 3 gene DOID:9008086 Developmental Disabilities ISO RGD:2291813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11797645 TET3 tet methylcytosine dioxygenase 3 gene DOID:9008255 Cognitive Impairment with or Without Cerebellar Ataxia ISO RGD:2291813 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cognitive impairment with or without cerebellar ataxia PMID:25741868 11797645 TET3 tet methylcytosine dioxygenase 3 gene DOID:9008582 Developmental Disease ISO RGD:2291813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11797645 TET3 tet methylcytosine dioxygenase 3 gene DOID:9538 multiple myeloma ISO RGD:2291813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11797663 ARPC5 actin related protein 2/3 complex subunit 5 gene DOID:0050328 congenital hypothyroidism ISO RGD:1311791 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex (rat) PMID:23459330|REF_RGD_ID:11049475 11797663 ARPC5 actin related protein 2/3 complex subunit 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1323427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11797663 ARPC5 actin related protein 2/3 complex subunit 5 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1323427 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:22089643|REF_RGD_ID:11049488 11797663 ARPC5 actin related protein 2/3 complex subunit 5 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1323427 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:22089643|REF_RGD_ID:11049488 11797663 ARPC5 actin related protein 2/3 complex subunit 5 gene DOID:630 genetic disease ISO RGD:1323427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797663 ARPC5 actin related protein 2/3 complex subunit 5 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis treatment ISO RGD:1311791 D RGD:9068941 20200609 RGD PMID:17997938|REF_RGD_ID:11049469 11797663 ARPC5 actin related protein 2/3 complex subunit 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11797671 ZNF92 zinc finger protein 92 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11797671 ZNF92 zinc finger protein 92 gene DOID:630 genetic disease ISO RGD:1347840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797681 ZNF28 zinc finger protein 28 gene DOID:630 genetic disease ISO RGD:1352869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797689 SLC4A11 solute carrier family 4 member 11 gene DOID:0060649 congenital hereditary endothelial dystrophy of cornea ISO RGD:1320941 D RGD:7240710 20180130 OMIM 11797689 SLC4A11 solute carrier family 4 member 11 gene DOID:0060649 congenital hereditary endothelial dystrophy of cornea ISO RGD:1320941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital hereditary endothelial dystrophy of cornea PMID:16767101|PMID:16825429|PMID:17220209|PMID:17397048|PMID:17576681|PMID:17679935|PMID:18024964|PMID:18474783|PMID:22072594|PMID:23615275|PMID:23922488|PMID:24033266|PMID:24916015|PMID:25741868|PMID:25741869|PMID:26619383|PMID:28492532|PMID:29327391|PMID:31323090|PMID:31691803|PMID:31714402|PMID:33541055|PMID:34637099|PMID:9536098 11797689 SLC4A11 solute carrier family 4 member 11 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1320941 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11797689 SLC4A11 solute carrier family 4 member 11 gene DOID:0110855 posterior polymorphous corneal dystrophy 1 ISO RGD:1320941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1 PMID:25182519|PMID:28492532 11797689 SLC4A11 solute carrier family 4 member 11 gene DOID:0111620 corneal dystrophy-perceptive deafness syndrome ISO RGD:1320941 D RGD:7240710 20180130 OMIM 11797689 SLC4A11 solute carrier family 4 member 11 gene DOID:0111620 corneal dystrophy-perceptive deafness syndrome ISO RGD:1320941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Corneal dystrophy-perceptive deafness syndrome PMID:16199547|PMID:16767101|PMID:16825429|PMID:17220209|PMID:17397048|PMID:17679935|PMID:18024964|PMID:18363173|PMID:18474783|PMID:19337156|PMID:19369245|PMID:20144242|PMID:21203343|PMID:22072594|PMID:23615275|PMID:23922488|PMID:24033266|PMID:24348007|PMID:24916015|PMID:25182519|PMID:25500497|PMID:25741868|PMID:26467025|PMID:27057589|PMID:28263186|PMID:28492532|PMID:28973083|PMID:29327391|PMID:31323090|PMID:31420327|PMID:31691803|PMID:31714402|PMID:33816482 11797689 SLC4A11 solute carrier family 4 member 11 gene DOID:2566 corneal dystrophy ISO RGD:1320941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal Dystrophy, Recessive | ClinVar Annotator: match by term: Corneal dystrophy PMID:18024964|PMID:18363173|PMID:20144242|PMID:20848555|PMID:23585771|PMID:23922488|PMID:24348007|PMID:25182519|PMID:25741868|PMID:26467025|PMID:28263186|PMID:28492532|PMID:28973083|PMID:29327391|PMID:31263352|PMID:33816482|PMID:34130750 11797689 SLC4A11 solute carrier family 4 member 11 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1320941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11797689 SLC4A11 solute carrier family 4 member 11 gene DOID:630 genetic disease ISO RGD:1320941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 11797689 SLC4A11 solute carrier family 4 member 11 gene DOID:9004127 Corneal Dystrophy, Fuchs Endothelial, 4 ISO RGD:1320941 D RGD:7240710 20180130 OMIM 11797689 SLC4A11 solute carrier family 4 member 11 gene DOID:9004127 Corneal Dystrophy, Fuchs Endothelial, 4 ISO RGD:1320941 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 4 PMID:16767101|PMID:18024964|PMID:22072594|PMID:25741868|PMID:29327391 11797689 SLC4A11 solute carrier family 4 member 11 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1320941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 11797731 ICAM2 intercellular adhesion molecule 2 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1351795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 11797731 ICAM2 intercellular adhesion molecule 2 gene DOID:1790 malignant mesothelioma ISO RGD:1351795 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 11797731 ICAM2 intercellular adhesion molecule 2 gene DOID:630 genetic disease ISO RGD:1351795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797731 ICAM2 intercellular adhesion molecule 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1351795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11797731 ICAM2 intercellular adhesion molecule 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11797740 PEG10 paternally expressed 10 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11797740 PEG10 paternally expressed 10 gene DOID:630 genetic disease ISO RGD:1349907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797748 HS3ST3A1 heparan sulfate-glucosamine 3-sulfotransferase 3A1 gene DOID:630 genetic disease ISO RGD:1322170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797754 CHIC1 cysteine rich hydrophobic domain 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11797754 CHIC1 cysteine rich hydrophobic domain 1 gene DOID:0080600 COVID-19 ISO RGD:1349014 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11797754 CHIC1 cysteine rich hydrophobic domain 1 gene DOID:10283 prostate cancer ISO RGD:1349014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11797754 CHIC1 cysteine rich hydrophobic domain 1 gene DOID:12849 autistic disorder ISO RGD:1349014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11797754 CHIC1 cysteine rich hydrophobic domain 1 gene DOID:630 genetic disease ISO RGD:1349014 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797767 CDC42BPA CDC42 binding protein kinase alpha gene DOID:0070241 primary coenzyme Q10 deficiency 4 ISO RGD:1351605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 PMID:24164873 11797767 CDC42BPA CDC42 binding protein kinase alpha gene DOID:0080600 COVID-19 ISO RGD:1351605 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11797767 CDC42BPA CDC42 binding protein kinase alpha gene DOID:1540 parathyroid carcinoma ISO RGD:1351605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11797767 CDC42BPA CDC42 binding protein kinase alpha gene DOID:630 genetic disease ISO RGD:1351605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797767 CDC42BPA CDC42 binding protein kinase alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11797831 FITM2 fat storage inducing transmembrane protein 2 gene DOID:0081273 Siddiqi syndrome ISO RGD:1317034 D RGD:7240710 20191127 OMIM 11797831 FITM2 fat storage inducing transmembrane protein 2 gene DOID:0081273 Siddiqi syndrome ISO RGD:1317034 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Siddiqi syndrome PMID:25741868|PMID:28067622|PMID:30214770|PMID:30288795 11797831 FITM2 fat storage inducing transmembrane protein 2 gene DOID:2234 focal epilepsy ISO RGD:1317034 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11797831 FITM2 fat storage inducing transmembrane protein 2 gene DOID:630 genetic disease ISO RGD:1317034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797831 FITM2 fat storage inducing transmembrane protein 2 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1317034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11797848 FA2H fatty acid 2-hydroxylase gene DOID:0050952 spastic ataxia ISO RGD:1318772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532|PMID:34445196 11797848 FA2H fatty acid 2-hydroxylase gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1318772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:25741868|PMID:27316240|PMID:28492532|PMID:29423566|PMID:30713878|PMID:31130284|PMID:31135052|PMID:33059505|PMID:33083013|PMID:34852264 11797848 FA2H fatty acid 2-hydroxylase gene DOID:0110786 hereditary spastic paraplegia 35 ISO RGD:1318772 D RGD:7240710 20180130 OMIM 11797848 FA2H fatty acid 2-hydroxylase gene DOID:0110786 hereditary spastic paraplegia 35 ISO RGD:1318772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 35 PMID:16199547|PMID:17576681|PMID:18414213|PMID:19068277|PMID:20104589|PMID:20853438|PMID:22146942|PMID:23745665|PMID:24033266|PMID:24299421|PMID:24833714|PMID:25326637|PMID:25496456|PMID:25732363|PMID:25741868|PMID:26344562|PMID:26467025|PMID:27217339|PMID:27957547|PMID:28017243|PMID:28492532|PMID:29423566|PMID:30446360|PMID:30532373|PMID:30713878|PMID:31130284|PMID:31135052|PMID:31407473|PMID:31429931|PMID:32624042|PMID:32907636|PMID:33083013|PMID:33144682|PMID:33246395|PMID:34445196|PMID:34852264|PMID:9536098 11797848 FA2H fatty acid 2-hydroxylase gene DOID:2476 hereditary spastic paraplegia ISO RGD:1318772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18414213|PMID:24033266|PMID:24299421|PMID:24833714|PMID:25741868|PMID:26467025|PMID:27217339|PMID:27957547|PMID:28017243|PMID:28492532|PMID:31135052|PMID:31429931|PMID:32624042|PMID:33144682 11797848 FA2H fatty acid 2-hydroxylase gene DOID:2565 macular corneal dystrophy ISO RGD:1318772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 11797848 FA2H fatty acid 2-hydroxylase gene DOID:607 paraplegia ISO RGD:1318772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:17576681|PMID:18414213|PMID:20104589|PMID:20853438|PMID:23745665|PMID:24033266|PMID:24299421|PMID:24833714|PMID:25496456|PMID:25732363|PMID:25741868|PMID:26344562|PMID:26467025|PMID:27165006|PMID:27217339|PMID:27316240|PMID:27957547|PMID:28017243|PMID:28492532|PMID:29423566|PMID:29980238|PMID:30713878|PMID:31130284|PMID:31135052|PMID:31227335|PMID:31407473|PMID:31429931|PMID:31628766|PMID:32624042|PMID:32907636|PMID:33059505|PMID:33083013|PMID:33144682|PMID:33246395|PMID:34445196|PMID:34852264|PMID:9536098 11797848 FA2H fatty acid 2-hydroxylase gene DOID:630 genetic disease ISO RGD:1318772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24299421|PMID:25741868|PMID:28492532|PMID:29980238|PMID:31135052|PMID:31227335|PMID:31429931|PMID:31628766|PMID:33144682 11797848 FA2H fatty acid 2-hydroxylase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11797859 C10H10orf53 chromosome 10 C10orf53 homolog gene DOID:11372 megacolon ISO RGD:1345709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11797859 C10H10orf53 chromosome 10 C10orf53 homolog gene DOID:5419 schizophrenia ISO RGD:1345709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11797859 C10H10orf53 chromosome 10 C10orf53 homolog gene DOID:630 genetic disease ISO RGD:1345709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797860 LOC100978165 defensin alpha 4 gene DOID:630 genetic disease ISO RGD:1353794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797867 PPP1CB protein phosphatase 1 catalytic subunit beta gene DOID:0080693 Noonan syndrome-like disorder with loose anagen hair 2 ISO RGD:731669 D RGD:7240710 20190315 OMIM 11797867 PPP1CB protein phosphatase 1 catalytic subunit beta gene DOID:0080693 Noonan syndrome-like disorder with loose anagen hair 2 ISO RGD:731669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 2 PMID:24033266|PMID:25741868|PMID:25741869|PMID:27264673|PMID:27681385|PMID:27868344|PMID:28211982|PMID:28492532|PMID:30236064|PMID:30348783|PMID:31474318|PMID:33333793|PMID:33491856 11797867 PPP1CB protein phosphatase 1 catalytic subunit beta gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:731669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11797867 PPP1CB protein phosphatase 1 catalytic subunit beta gene DOID:2785 Dandy-Walker syndrome ISO RGD:731669 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Dandy-Walker malformation PMID:25741868|PMID:25741869|PMID:27264673|PMID:27681385|PMID:27868344|PMID:28211982|PMID:28492532|PMID:30348783|PMID:31474318|PMID:33491856 11797867 PPP1CB protein phosphatase 1 catalytic subunit beta gene DOID:3490 Noonan syndrome ISO RGD:731669 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Noonan syndrome PMID:25741868|PMID:25741869|PMID:27264673|PMID:27681385|PMID:27868344|PMID:28211982|PMID:28492532|PMID:30348783|PMID:31474318|PMID:33491856 11797867 PPP1CB protein phosphatase 1 catalytic subunit beta gene DOID:630 genetic disease ISO RGD:731669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:25741869|PMID:27264673|PMID:27681385|PMID:27868344|PMID:28211982|PMID:28492532|PMID:30236064|PMID:30348783|PMID:30577886|PMID:31474318|PMID:33333793|PMID:33491856|PMID:9536098 11797878 METTL5 methyltransferase 5, N6-adenosine gene DOID:0080765 autosomal recessive intellectual developmental disorder 72 ISO RGD:1606016 D RGD:7240710 20191211 OMIM 11797878 METTL5 methyltransferase 5, N6-adenosine gene DOID:0080765 autosomal recessive intellectual developmental disorder 72 ISO RGD:1606016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 72 PMID:25741868|PMID:28492532|PMID:31130284|PMID:31564433 11797878 METTL5 methyltransferase 5, N6-adenosine gene DOID:1059 intellectual disability ISO RGD:1606016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:31564433 11797878 METTL5 methyltransferase 5, N6-adenosine gene DOID:630 genetic disease ISO RGD:1606016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797893 TADA2B transcriptional adaptor 2B gene DOID:630 genetic disease ISO RGD:2979550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797899 ODF2L outer dense fiber of sperm tails 2 like gene DOID:630 genetic disease ISO RGD:1606519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797941 KCNIP2 potassium voltage-gated channel interacting protein 2 gene DOID:630 genetic disease ISO RGD:734096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11797941 KCNIP2 potassium voltage-gated channel interacting protein 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:737095 D RGD:9068941 20200609 RGD PMID:11747815|REF_RGD_ID:737786 11797964 OAZ1 ornithine decarboxylase antizyme 1 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:733111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 11797964 OAZ1 ornithine decarboxylase antizyme 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11797973 NEB nebulin gene DOID:0050557 congenital muscular dystrophy ISO RGD:1322432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:25741868|PMID:28492532 11797973 NEB nebulin gene DOID:0070336 arthrogryposis multiplex congenita-6 ISO RGD:1322432 D RGD:7240710 20210616 OMIM 11797973 NEB nebulin gene DOID:0070336 arthrogryposis multiplex congenita-6 ISO RGD:1322432 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 6 PMID:15221447|PMID:16199547|PMID:17576681|PMID:19232495|PMID:19346529|PMID:21798101|PMID:22183965|PMID:22367672|PMID:23572184|PMID:24033266|PMID:25079567|PMID:25205138|PMID:25205148|PMID:25741868|PMID:25741874|PMID:26403434|PMID:26467025|PMID:26578207|PMID:26841830|PMID:27933661|PMID:28336317|PMID:28492532|PMID:29274205|PMID:32222963|PMID:32721234|PMID:33376055|PMID:9536098 11797973 NEB nebulin gene DOID:0110928 nemaline myopathy 2 ISO RGD:1322432 D RGD:7240710 20180130 OMIM 11797973 NEB nebulin gene DOID:0110928 nemaline myopathy 2 ISO RGD:1322432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:10051637|PMID:10931867|PMID:11309420|PMID:11851340|PMID:11994971|PMID:12207938|PMID:15221447|PMID:15266303|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18330676|PMID:18414213|PMID:19232495|PMID:19339519|PMID:19346529|PMID:19763152|PMID:19805734|PMID:19944167|PMID:20307669|PMID:21148390|PMID:21350120|PMID:21520333|PMID:21724397|PMID:21798101|PMID:22183965|PMID:22367672|PMID:22406018|PMID:22941678|PMID:23010307|PMID:23441136|PMID:23443021|PMID:23555315|PMID:23572184|PMID:23715096|PMID:23726790|PMID:23826317|PMID:24033266|PMID:24046450|PMID:24056153|PMID:24725366|PMID:24753607|PMID:24972929|PMID:25079567|PMID:25110572|PMID:25203624|PMID:25205138|PMID:25205148|PMID:25214167|PMID:25296583|PMID:25332755|PMID:25356970|PMID:25473036|PMID:25525159|PMID:25589042|PMID:25589043|PMID:25640679|PMID:25740301|PMID:25741868|PMID:25741869|PMID:26019235|PMID:26036949|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26562614|PMID:26573135|PMID:26578207|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27066551|PMID:27105866|PMID:27168972|PMID:27357428|PMID:27739254|PMID:27854218|PMID:27884173|PMID:27902461|PMID:27933661|PMID:28131200|PMID:28132693|PMID:28357410|PMID:28391287|PMID:28403181|PMID:28424332|PMID:28492532|PMID:28600779|PMID:28977494|PMID:29070751|PMID:29172004|PMID:29246625|PMID:29274205|PMID:29382405|PMID:29389947|PMID:29644095|PMID:29669168|PMID:29689380|PMID:29754767|PMID:29792937|PMID:29947179|PMID:29961767|PMID:30057997|PMID:30265400|PMID:30467404|PMID:30517146|PMID:30679003|PMID:30859559|PMID:30950222|PMID:31127727|PMID:31230720|PMID:31256874|PMID:31965297|PMID:32062132|PMID:32222963|PMID:32403337|PMID:32721234|PMID:33060286|PMID:33250842|PMID:33442022|PMID:33742171|PMID:34440373|PMID:34782754|PMID:7739042|PMID:9536098 11797973 NEB nebulin gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1322432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11797973 NEB nebulin gene DOID:3191 nemaline myopathy ISO RGD:1322432 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Dominant | ClinVar Annotator: match by term: Nemaline Myopathy, Recessive | ClinVar Annotator: match by term: Nemaline myopathy PMID:12207938|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18330676|PMID:19232495|PMID:19805734|PMID:19944167|PMID:21798101|PMID:22281206|PMID:22367672|PMID:23010307|PMID:23443021|PMID:23572184|PMID:23715096|PMID:24056153|PMID:25079567|PMID:25110572|PMID:25205138|PMID:25205148|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26019235|PMID:26036949|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27105866|PMID:27168972|PMID:27933661|PMID:28132693|PMID:28424332|PMID:28492532|PMID:28977494|PMID:29246625|PMID:29382405|PMID:29389947|PMID:29644095|PMID:30057997|PMID:30467404|PMID:30859559|PMID:32222963|PMID:32721234|PMID:33742171|PMID:9536098 11797973 NEB nebulin gene DOID:3191 nemaline myopathy ISO RGD:1322432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Recessive | ClinVar Annotator: match by term: Nemaline myopathy PMID:12207938|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18330676|PMID:19232495|PMID:19805734|PMID:19944167|PMID:21798101|PMID:22281206|PMID:22367672|PMID:23010307|PMID:23443021|PMID:23572184|PMID:23715096|PMID:24056153|PMID:25079567|PMID:25110572|PMID:25205138|PMID:25205148|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26019235|PMID:26036949|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27105866|PMID:27168972|PMID:27933661|PMID:28132693|PMID:28424332|PMID:28492532|PMID:28977494|PMID:29246625|PMID:29382405|PMID:29389947|PMID:29644095|PMID:29669168|PMID:30057997|PMID:30467404|PMID:30859559|PMID:31230720|PMID:32222963|PMID:32721234|PMID:33442022|PMID:33742171|PMID:9536098 11797973 NEB nebulin gene DOID:574 peripheral nervous system disease ISO RGD:1322432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 11797973 NEB nebulin gene DOID:630 genetic disease ISO RGD:1322432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19339519|PMID:23726790|PMID:24033266|PMID:24725366|PMID:25205138|PMID:25205148|PMID:25356970|PMID:25741868|PMID:26403434|PMID:26467025|PMID:26562614|PMID:26841830|PMID:28492532|PMID:32222963|PMID:32721234|PMID:9536098 11797973 NEB nebulin gene DOID:870 neuropathy ISO RGD:1322432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 11797973 NEB nebulin gene DOID:9000123 Deglutition Disorders ISO RGD:1322432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysphagia PMID:24056153|PMID:25205138|PMID:25741868|PMID:28492532 11797973 NEB nebulin gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1322432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:25741868|PMID:28492532 11797973 NEB nebulin gene DOID:9008386 Hydrops Fetalis ISO RGD:1322432 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:18330676|PMID:25205138|PMID:25741868|PMID:26036949|PMID:26841830|PMID:28492532 11797973 NEB nebulin gene DOID:9884 muscular dystrophy ISO RGD:1322432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:18414213|PMID:25205138|PMID:25741868|PMID:28492532 11798057 DPH1 diphthamide biosynthesis 1 gene DOID:0060469 Miller-Dieker lissencephaly syndrome ISO RGD:1557600 D RGD:9068941 20220825 MouseDO OMIM:247200 11798057 DPH1 diphthamide biosynthesis 1 gene DOID:10908 hydrocephalus ISO RGD:1352320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hydrocephalus PMID:25558065|PMID:25741868|PMID:30877278 11798057 DPH1 diphthamide biosynthesis 1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1352320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dandy-Walker malformation PMID:25558065|PMID:25741868|PMID:30877278 11798057 DPH1 diphthamide biosynthesis 1 gene DOID:630 genetic disease ISO RGD:1352320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:29565416|PMID:30877278|PMID:32732226 11798057 DPH1 diphthamide biosynthesis 1 gene DOID:9005766 Loucks-Innes Syndrome ISO RGD:1352320 D RGD:7240710 20190315 OMIM 11798057 DPH1 diphthamide biosynthesis 1 gene DOID:9005766 Loucks-Innes Syndrome ISO RGD:1352320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic features, and sparse hair | ClinVar Annotator: match by term: LOUCKS-INNES SYNDROME PMID:14744934|PMID:24895408|PMID:25558065|PMID:25741868|PMID:26220823|PMID:28492532|PMID:29362492|PMID:29410513|PMID:29565416|PMID:30877278|PMID:32595695|PMID:32732226 11798057 DPH1 diphthamide biosynthesis 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1352320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065|PMID:25741868|PMID:30877278 11798082 SIGLEC9 sialic acid binding Ig like lectin 9 gene DOID:630 genetic disease ISO RGD:1353065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798096 SYTL3 synaptotagmin like 3 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1352944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 11798096 SYTL3 synaptotagmin like 3 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1352944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 11798096 SYTL3 synaptotagmin like 3 gene DOID:630 genetic disease ISO RGD:1352944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798123 RBL1 RB transcriptional corepressor like 1 gene DOID:2234 focal epilepsy ISO RGD:1313374 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11798123 RBL1 RB transcriptional corepressor like 1 gene DOID:630 genetic disease ISO RGD:1313374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798123 RBL1 RB transcriptional corepressor like 1 gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1313374 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 11798149 STK36 serine/threonine kinase 36 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1316442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11798149 STK36 serine/threonine kinase 36 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1316442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11798149 STK36 serine/threonine kinase 36 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1316442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11798149 STK36 serine/threonine kinase 36 gene DOID:10908 hydrocephalus ISO RGD:1550700 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 11798149 STK36 serine/threonine kinase 36 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1316442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11798149 STK36 serine/threonine kinase 36 gene DOID:630 genetic disease ISO RGD:1316442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798149 STK36 serine/threonine kinase 36 gene DOID:9001692 Primary Ciliary Dyskinesia 46 ISO RGD:1316442 D RGD:7240710 20210728 OMIM 11798149 STK36 serine/threonine kinase 36 gene DOID:9001692 Primary Ciliary Dyskinesia 46 ISO RGD:1316442 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 46 PMID:25741868|PMID:28492532|PMID:28543983 11798149 STK36 serine/threonine kinase 36 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11798149 STK36 serine/threonine kinase 36 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11798192 ZNF330 zinc finger protein 330 gene DOID:630 genetic disease ISO RGD:1316746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798215 ESRRG estrogen related receptor gamma gene DOID:0050439 Usher syndrome ISO RGD:1349366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 11798215 ESRRG estrogen related receptor gamma gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1349366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 11798215 ESRRG estrogen related receptor gamma gene DOID:1540 parathyroid carcinoma ISO RGD:1349366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11798215 ESRRG estrogen related receptor gamma gene DOID:5426 primary ovarian insufficiency ISO RGD:1349366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 11798215 ESRRG estrogen related receptor gamma gene DOID:630 genetic disease ISO RGD:1349366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798215 ESRRG estrogen related receptor gamma gene DOID:9002231 Fetal Growth Retardation ISO RGD:1349366 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35220427 11798215 ESRRG estrogen related receptor gamma gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11798233 MATCAP1 microtubule associated tyrosine carboxypeptidase 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:2302259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11798233 MATCAP1 microtubule associated tyrosine carboxypeptidase 1 gene DOID:0080600 COVID-19 ISO RGD:2302259 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11798233 MATCAP1 microtubule associated tyrosine carboxypeptidase 1 gene DOID:630 genetic disease ISO RGD:2302259 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798249 SELPLG selectin P ligand gene DOID:0060180 colitis ISO RGD:1317473 D RGD:9068941 20200609 RGD PMID:22009715|REF_RGD_ID:6218987 11798249 SELPLG selectin P ligand gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1317472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 11798249 SELPLG selectin P ligand gene DOID:0080600 COVID-19 ISO RGD:1317472 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 11798249 SELPLG selectin P ligand gene DOID:3407 carotid artery disease ISO RGD:1317472 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M62I (human) PMID:22307784|REF_RGD_ID:6218985 11798249 SELPLG selectin P ligand gene DOID:630 genetic disease ISO RGD:1317472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798306 LOC103783749 keratin, type II cytoskeletal 6B gene DOID:0050449 pachyonychia congenita ISO RGD:1349887 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism 11798306 LOC103783749 keratin, type II cytoskeletal 6B gene DOID:1749 squamous cell carcinoma ISO RGD:1349887 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 11798306 LOC103783749 keratin, type II cytoskeletal 6B gene DOID:630 genetic disease ISO RGD:1349887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798306 LOC103783749 keratin, type II cytoskeletal 6B gene DOID:9004213 Pachyonychia Congenita 2 ISO RGD:1349887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pachyonychia congenita 2 11798306 LOC103783749 keratin, type II cytoskeletal 6B gene DOID:9007364 Mouth Neoplasms ISO RGD:1349887 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 11798306 LOC103783749 keratin, type II cytoskeletal 6B gene DOID:9007885 Pachyonychia Congenita 4 ISO RGD:1349887 D RGD:7240710 20200610 OMIM 11798306 LOC103783749 keratin, type II cytoskeletal 6B gene DOID:9007885 Pachyonychia Congenita 4 ISO RGD:1349887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pachyonychia congenita 4 PMID:16250206|PMID:24354895|PMID:24611874|PMID:25741868|PMID:28492532|PMID:33301203|PMID:9618173 11798320 UNKL unk like zinc finger gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1604323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 11798320 UNKL unk like zinc finger gene DOID:0080678 mucolipidosis III gamma ISO RGD:1604323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: MUCOLIPIDOSIS III, VARIANT FORM 11798320 UNKL unk like zinc finger gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604323 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11798320 UNKL unk like zinc finger gene DOID:1826 epilepsy ISO RGD:1604323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11798320 UNKL unk like zinc finger gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11798320 UNKL unk like zinc finger gene DOID:630 genetic disease ISO RGD:1604323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798360 EVI2A ecotropic viral integration site 2A gene DOID:0111253 neurofibromatosis 1 ISO RGD:1350066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10587576|PMID:10607834|PMID:10631140|PMID:10712197|PMID:10980545|PMID:11857752|PMID:12566521|PMID:12807981|PMID:14722914|PMID:15257518|PMID:1568247|PMID:16199547|PMID:16283621|PMID:16786508|PMID:18183042|PMID:18196300|PMID:19221814|PMID:20513137|PMID:22241097|PMID:22807134|PMID:22837079|PMID:23244495|PMID:23532973|PMID:23913538|PMID:24033266|PMID:24232412|PMID:24357598|PMID:24958239|PMID:25205021|PMID:25480383|PMID:25541118|PMID:25631097|PMID:25640679|PMID:26178382|PMID:26189818|PMID:26458495|PMID:26635368|PMID:26740943|PMID:27322474|PMID:27629806|PMID:28492532|PMID:30530636|PMID:33877690|PMID:8116612|PMID:8931693|PMID:9643287 11798360 EVI2A ecotropic viral integration site 2A gene DOID:1969 cerebral palsy ISO RGD:1350066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 11798360 EVI2A ecotropic viral integration site 2A gene DOID:630 genetic disease ISO RGD:1350066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798360 EVI2A ecotropic viral integration site 2A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350066 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 11798360 EVI2A ecotropic viral integration site 2A gene DOID:9008086 Developmental Disabilities ISO RGD:1350066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 11798395 CYP4F3 cytochrome P450 family 4 subfamily F member 3 gene DOID:630 genetic disease ISO RGD:1349362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798395 CYP4F3 cytochrome P450 family 4 subfamily F member 3 gene DOID:9000046 Poisoning ISO RGD:1349362 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20036648 11798416 RNF8 ring finger protein 8 gene DOID:12849 autistic disorder ISO RGD:1317571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18621663 11798416 RNF8 ring finger protein 8 gene DOID:630 genetic disease ISO RGD:1317571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798445 UTP14C UTP14C small subunit processome component gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1344153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11798445 UTP14C UTP14C small subunit processome component gene DOID:0080567 congenital disorder of glycosylation Ip ISO RGD:1344153 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1P PMID:10441329|PMID:16283883|PMID:22213132|PMID:25741868|PMID:28122681|PMID:28492532|PMID:30676690 11798445 UTP14C UTP14C small subunit processome component gene DOID:1059 intellectual disability ISO RGD:1344153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11798445 UTP14C UTP14C small subunit processome component gene DOID:5212 congenital disorder of glycosylation ISO RGD:1344153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 11798445 UTP14C UTP14C small subunit processome component gene DOID:630 genetic disease ISO RGD:1344153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798445 UTP14C UTP14C small subunit processome component gene DOID:893 Wilson disease ISO RGD:1344153 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10441329|PMID:16283883|PMID:28492532|PMID:30655162|PMID:30676690 11798454 OCIAD1 OCIA domain containing 1 gene DOID:630 genetic disease ISO RGD:1351024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798454 OCIAD1 OCIA domain containing 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11798495 MUC13 mucin 13, cell surface associated gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1350619 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 11798495 MUC13 mucin 13, cell surface associated gene DOID:326 ischemia ISO RGD:708547 D RGD:9068941 20200609 RGD protein:increased degradation:jejunum PMID:22768227|REF_RGD_ID:7349363 11798495 MUC13 mucin 13, cell surface associated gene DOID:9002992 Nematode Infections ISO RGD:1553384 D RGD:9068941 20200609 RGD protein:increased expression:cecum, glycocalyx PMID:21155842|REF_RGD_ID:7364766 11798495 MUC13 mucin 13, cell surface associated gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1350619 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 11798495 MUC13 mucin 13, cell surface associated gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1350619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 11798495 MUC13 mucin 13, cell surface associated gene DOID:9270 alkaptonuria ISO RGD:1350619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11798514 CYLC1 cylicin 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11798514 CYLC1 cylicin 1 gene DOID:12849 autistic disorder ISO RGD:1348149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11798514 CYLC1 cylicin 1 gene DOID:630 genetic disease ISO RGD:1348149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798522 BARX2 BARX homeobox 2 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1350102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11798522 BARX2 BARX homeobox 2 gene DOID:5419 schizophrenia ISO RGD:1350102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11798522 BARX2 BARX homeobox 2 gene DOID:630 genetic disease ISO RGD:1350102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798522 BARX2 BARX homeobox 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1350102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11798522 BARX2 BARX homeobox 2 gene DOID:9007661 Dwarfism ISO RGD:1350102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11798532 COPS4 COP9 signalosome subunit 4 gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1345570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 11798532 COPS4 COP9 signalosome subunit 4 gene DOID:630 genetic disease ISO RGD:1345570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798553 HCRTR1 hypocretin receptor 1 gene DOID:0060001 withdrawal disorder ISO RGD:734418 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20667500 11798553 HCRTR1 hypocretin receptor 1 gene DOID:630 genetic disease ISO RGD:734418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798553 HCRTR1 hypocretin receptor 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:734418 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16357203|PMID:19591850|PMID:19741128 11798571 GIT1 GIT ArfGAP 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:732720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 11798571 GIT1 GIT ArfGAP 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:732720 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499268 11798571 GIT1 GIT ArfGAP 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:732720 D RGD:9068941 20200609 RGD DNA:polymorphism:intron PMID:21499268|REF_RGD_ID:11344918 11798571 GIT1 GIT ArfGAP 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:737425 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 11798571 GIT1 GIT ArfGAP 1 gene DOID:12858 Huntington's disease ISO RGD:732720 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (human) PMID:15383276|REF_RGD_ID:1549448 11798571 GIT1 GIT ArfGAP 1 gene DOID:630 genetic disease ISO RGD:732720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798571 GIT1 GIT ArfGAP 1 gene DOID:9002362 Hyperkinesis ISO RGD:732720 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499268 11798571 GIT1 GIT ArfGAP 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732720 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100775 11798571 GIT1 GIT ArfGAP 1 gene DOID:9008023 Memory Disorders ISO RGD:732720 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499268 11798571 GIT1 GIT ArfGAP 1 gene DOID:9008582 Developmental Disease ISO RGD:732720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11798596 CDK5 cyclin dependent kinase 5 gene DOID:0080600 COVID-19 ISO RGD:70825 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11798596 CDK5 cyclin dependent kinase 5 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:70825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 11798596 CDK5 cyclin dependent kinase 5 gene DOID:0112231 lissencephaly 7 with cerebellar hypoplasia ISO RGD:70825 D RGD:7240710 20180130 OMIM 11798596 CDK5 cyclin dependent kinase 5 gene DOID:0112231 lissencephaly 7 with cerebellar hypoplasia ISO RGD:70825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia PMID:25560765 11798596 CDK5 cyclin dependent kinase 5 gene DOID:10652 Alzheimer's disease ISO RGD:70825 D RGD:9068941 20200609 RGD DNA:SNP:intron:g.149800G>C (human) PMID:15917097|REF_RGD_ID:13782365 11798596 CDK5 cyclin dependent kinase 5 gene DOID:10652 Alzheimer's disease treatment ISO RGD:70514 D RGD:9068941 20200609 RGD PMID:28269780|REF_RGD_ID:13508590 11798596 CDK5 cyclin dependent kinase 5 gene DOID:10652 Alzheimer's disease treatment ISO RGD:70826 D RGD:9068941 20200609 RGD PMID:28085018|REF_RGD_ID:13792587 11798596 CDK5 cyclin dependent kinase 5 gene DOID:12098 trigeminal neuralgia ISO RGD:70514 D RGD:9068941 20200609 RGD PMID:21161138|REF_RGD_ID:13782378 11798596 CDK5 cyclin dependent kinase 5 gene DOID:1596 depressive disorder treatment ISO RGD:70514 D RGD:9068941 20200609 RGD PMID:21682945|REF_RGD_ID:13782377 11798596 CDK5 cyclin dependent kinase 5 gene DOID:224 transient cerebral ischemia treatment ISO RGD:70514 D RGD:9068941 20200609 RGD PMID:28254431|REF_RGD_ID:13506925 11798596 CDK5 cyclin dependent kinase 5 gene DOID:2316 brain ischemia ISO RGD:70514 D RGD:9068941 20200609 RGD PMID:14502288|REF_RGD_ID:734740 11798596 CDK5 cyclin dependent kinase 5 gene DOID:2843 long QT syndrome ISO RGD:70825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 11798596 CDK5 cyclin dependent kinase 5 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:70826 D RGD:9068941 20200609 RGD PMID:11343650|REF_RGD_ID:734741 11798596 CDK5 cyclin dependent kinase 5 gene DOID:3525 middle cerebral artery infarction ISO RGD:70826 D RGD:9068941 20200609 RGD PMID:24920629|REF_RGD_ID:13782375 11798596 CDK5 cyclin dependent kinase 5 gene DOID:630 genetic disease ISO RGD:70825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798596 CDK5 cyclin dependent kinase 5 gene DOID:680 tauopathy ISO RGD:70825 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26945731 11798596 CDK5 cyclin dependent kinase 5 gene DOID:8725 vascular dementia treatment ISO RGD:70514 D RGD:9068941 20200609 RGD PMID:27118553|REF_RGD_ID:13792766 11798596 CDK5 cyclin dependent kinase 5 gene DOID:9002138 Spinal Cord Reperfusion Injury treatment ISO RGD:70514 D RGD:9068941 20200609 RGD PMID:25301568|REF_RGD_ID:13782374 11798596 CDK5 cyclin dependent kinase 5 gene DOID:9005372 Inflammation ISO RGD:70514 D RGD:9068941 20200609 RGD PMID:16407116|REF_RGD_ID:13782383 11798596 CDK5 cyclin dependent kinase 5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:70826 D RGD:9068941 20200609 RGD PMID:11268215|REF_RGD_ID:734739 11798596 CDK5 cyclin dependent kinase 5 gene DOID:9009105 HIV Encephalitis ISO RGD:70514 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:hippocampus PMID:28107387|REF_RGD_ID:13506927 11798612 NUP35 nucleoporin 35 gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1550583 D RGD:9068941 20220825 MouseDO 11798612 NUP35 nucleoporin 35 gene DOID:10316 pneumoconiosis ISO RGD:1353367 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 11798612 NUP35 nucleoporin 35 gene DOID:13938 amenorrhea ISO RGD:1353367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11798612 NUP35 nucleoporin 35 gene DOID:630 genetic disease ISO RGD:1353367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798638 CUL3 cullin 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1317824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11798638 CUL3 cullin 3 gene DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 ISO RGD:1317824 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant PMID:25741868|PMID:28492532 11798638 CUL3 cullin 3 gene DOID:1059 intellectual disability ISO RGD:1317824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11798638 CUL3 cullin 3 gene DOID:1909 melanoma ISO RGD:1317824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11798638 CUL3 cullin 3 gene DOID:4479 pseudohypoaldosteronism ISO RGD:1317824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperpotassemia and hypertension familial PMID:22266938 11798638 CUL3 cullin 3 gene DOID:630 genetic disease ISO RGD:1317824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11798638 CUL3 cullin 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1317824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11798638 CUL3 cullin 3 gene DOID:9002890 Pseudohypoaldosteronism, Type IIA ISO RGD:1317824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome PMID:22266938 11798638 CUL3 cullin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11798638 CUL3 cullin 3 gene DOID:9004952 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES ISO RGD:1317824 D RGD:7240710 20220216 OMIM 11798638 CUL3 cullin 3 gene DOID:9004952 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES ISO RGD:1317824 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without autism or seizures PMID:16199547|PMID:25741868|PMID:27824329|PMID:28492532|PMID:29361671|PMID:32341456|PMID:32860008|PMID:33004838 11798638 CUL3 cullin 3 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1317824 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:25741868|PMID:32341456 11798638 CUL3 cullin 3 gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:1317824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 11798638 CUL3 cullin 3 gene DOID:9008890 Pseudohypoaldosteronism, Type IIE ISO RGD:1317824 D RGD:7240710 20180130 OMIM 11798638 CUL3 cullin 3 gene DOID:9008890 Pseudohypoaldosteronism, Type IIE ISO RGD:1317824 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2E PMID:22266938|PMID:25741868|PMID:28492532|PMID:32341456|PMID:32860008 11798656 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:0070111 Niemann-Pick disease type A ISO RGD:1318462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:25741868 11798656 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:0070112 Niemann-Pick disease type B ISO RGD:1318462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:25741868 11798656 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1318462 D RGD:7240710 20180130 OMIM 11798656 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1318462 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, adult form | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, juvenile form PMID:10419504|PMID:10480349|PMID:10521290|PMID:10521297|PMID:11182931|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11545687|PMID:11754101|PMID:12205649|PMID:12401890|PMID:12408188|PMID:12554680|PMID:12719428|PMID:12813037|PMID:12955717|PMID:12974729|PMID:14639697|PMID:14970192|PMID:15130691|PMID:15347664|PMID:15459971|PMID:15465421|PMID:15596783|PMID:15774455|PMID:15937921|PMID:16086131|PMID:16098014|PMID:16126423|PMID:16138904|PMID:16143556|PMID:16199547|PMID:16720792|PMID:16778374|PMID:16802107|PMID:17003072|PMID:17160617|PMID:17576681|PMID:17973331|PMID:17989072|PMID:18081003|PMID:18216017|PMID:19013089|PMID:19206179|PMID:19223215|PMID:19252935|PMID:19307542|PMID:19563754|PMID:19609713|PMID:19718781|PMID:19744920|PMID:19900398|PMID:20301473|PMID:20489167|PMID:20521171|PMID:20554533|PMID:20718790|PMID:20826119|PMID:20882348|PMID:20981092|PMID:21245028|PMID:21436030|PMID:21550990|PMID:22065762|PMID:22269206|PMID:22326530|PMID:22476655|PMID:22505584|PMID:22676771|PMID:22704015|PMID:22750297|PMID:22995991|PMID:23142039|PMID:23146215|PMID:23183285|PMID:23427322|PMID:23430855|PMID:23433426|PMID:23453666|PMID:23487299|PMID:23593294|PMID:23597521|PMID:23653225|PMID:23685560|PMID:23757202|PMID:23773996|PMID:23774949|PMID:23791518|PMID:23821321|PMID:24001525|PMID:24033266|PMID:24035292|PMID:24178705|PMID:24386122|PMID:24506780|PMID:24570279|PMID:24676439|PMID:24767253|PMID:24891511|PMID:24915861|PMID:24928400|PMID:25071864|PMID:25131710|PMID:25149939|PMID:25236789|PMID:25239094|PMID:25326635|PMID:25326637|PMID:25349751|PMID:25425405|PMID:25497598|PMID:25590979|PMID:25637190|PMID:25741868|PMID:25764212|PMID:25873482|PMID:25888393|PMID:25989649|PMID:26019327|PMID:26108224|PMID:26206375|PMID:26255038|PMID:26284228|PMID:26338816|PMID:26467025|PMID:26666848|PMID:26771826|PMID:26790753|PMID:26830282|PMID:26910362|PMID:26937389|PMID:26939636|PMID:26981555|PMID:26984608|PMID:27016452|PMID:27139891|PMID:27193329|PMID:27234403|PMID:27238017|PMID:27250337|PMID:27256227|PMID:27366019|PMID:27378690|PMID:27528516|PMID:27549128|PMID:27550898|PMID:27581084|PMID:27599728|PMID:27706244|PMID:27792009|PMID:27900365|PMID:27923633|PMID:27928380|PMID:27959697|PMID:28105569|PMID:28130309|PMID:28155026|PMID:28167839|PMID:28193631|PMID:28222799|PMID:28328115|PMID:28387450|PMID:28413817|PMID:28472934|PMID:28480683|PMID:28492532|PMID:28703315|PMID:28710748|PMID:28776642|PMID:28784760|PMID:28802248|PMID:28808920|PMID:28865947|PMID:28883878|PMID:29100954|PMID:29165669|PMID:29197565|PMID:29453517|PMID:29476731|PMID:29631617|PMID:29971198|PMID:30019023|PMID:30119649|PMID:30153451|PMID:30202070|PMID:30285904|PMID:30487145|PMID:30552426|PMID:30556376|PMID:30609409|PMID:30633340|PMID:30665703|PMID:30737051|PMID:30820861|PMID:30923329|PMID:30985853|PMID:31130284|PMID:31139477|PMID:31296176|PMID:31497485|PMID:31543266|PMID:31589614|PMID:31635081|PMID:31639011|PMID:3165081|PMID:31699992|PMID:31743419|PMID:31754021|PMID:31980526|PMID:32060698|PMID:32138288|PMID:32144825|PMID:32222928|PMID:32248828|PMID:32289814|PMID:32482919|PMID:32488064|PMID:32709131|PMID:32745579|PMID:32860008|PMID:32921771|PMID:32931663|PMID:33021976|PMID:33099109|PMID:33139814|PMID:33163944|PMID:33258288|PMID:33624863|PMID:3378364|PMID:33947371|PMID:33990640|PMID:34303826|PMID:35892469|PMID:4795418|PMID:5465421|PMID:9211849|PMID:9211850|PMID:9245994|PMID:9536098|PMID:9634529|PMID:9744920|PMID:9927649 11798656 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:0070114 Niemann-Pick disease type C2 ISO RGD:1318462 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C2 PMID:25741868 11798656 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:0111029 hemochromatosis type 1 ISO RGD:1318462 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 1 PMID:11479732|PMID:25741868|PMID:28492532|PMID:30820861 11798656 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:1059 intellectual disability ISO RGD:1318462 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11798656 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:11077 brucellosis ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12183525 11798656 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:14504 Niemann-Pick disease ISO RGD:1553002 D RGD:9068941 20220825 MouseDO 11798656 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:1826 epilepsy ISO RGD:1318462 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11798656 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:1936 atherosclerosis ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18483620 11798656 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:2725 capillary hemangioma ISO RGD:1318462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Capillary hemangioma PMID:25741868 11798656 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:409 liver disease ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24901380 11798656 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:5082 liver cirrhosis ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22216111 11798656 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:539 ophthalmoplegia ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21273508 11798656 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:543 dystonia ISO RGD:1318462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868|PMID:26981555|PMID:28492532 11798656 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:630 genetic disease ISO RGD:1318462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10480349|PMID:10521290|PMID:10521297|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11754101|PMID:12401890|PMID:12408188|PMID:12955717|PMID:14639697|PMID:15465421|PMID:15937921|PMID:16098014|PMID:16126423|PMID:17044092|PMID:17160617|PMID:17576681|PMID:17989072|PMID:18216017|PMID:19252935|PMID:19563754|PMID:19744920|PMID:20301473|PMID:20521171|PMID:20554533|PMID:20718790|PMID:20826119|PMID:21245028|PMID:21436030|PMID:22326530|PMID:22505584|PMID:23183285|PMID:23427322|PMID:23430855|PMID:23433426|PMID:23773996|PMID:23791518|PMID:24033266|PMID:24386122|PMID:24928400|PMID:25131710|PMID:25149939|PMID:25236789|PMID:25349751|PMID:25425405|PMID:25590979|PMID:25637190|PMID:25741868|PMID:25764212|PMID:25873482|PMID:26019327|PMID:26255038|PMID:26666848|PMID:26790753|PMID:26939636|PMID:26981555|PMID:27193329|PMID:27238017|PMID:27250337|PMID:27923633|PMID:27928380|PMID:28105569|PMID:28130309|PMID:28193631|PMID:28222799|PMID:28413817|PMID:28492532|PMID:28710748|PMID:28776642|PMID:28784760|PMID:28865947|PMID:29476731|PMID:29631617|PMID:30019023|PMID:30153451|PMID:30285904|PMID:30487145|PMID:30552426|PMID:30556376|PMID:30609409|PMID:30665703|PMID:30820861|PMID:31130284|PMID:31589614|PMID:31639011|PMID:31980526|PMID:32138288|PMID:32222928|PMID:32248828|PMID:32709131|PMID:32745579|PMID:32860008|PMID:33099109|PMID:33990640|PMID:9211849|PMID:9211850|PMID:9536098 11798656 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:9001722 Dysarthria ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21273508 11798656 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:9002695 Cataplexy ISO RGD:1318462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataplexy PMID:10521290|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11754101|PMID:12401890|PMID:12955717|PMID:14639697|PMID:15937921|PMID:16086131|PMID:16098014|PMID:20301473|PMID:20554533|PMID:23183285|PMID:23427322|PMID:23773996|PMID:23791518|PMID:25236789|PMID:25349751|PMID:25425405|PMID:25741868|PMID:26666848|PMID:26981555|PMID:28492532|PMID:32138288|PMID:32248828 11798656 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:9003739 Niemann-Pick Disease Type D ISO RGD:1318462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type D PMID:11333381|PMID:11545687|PMID:12401890|PMID:16126423|PMID:16778374|PMID:20301473|PMID:20718790|PMID:25741868|PMID:26666848|PMID:26984608|PMID:28222799|PMID:28492532|PMID:9245994|PMID:9634529 11798656 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:9004866 Ataxia ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21273508 11798656 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11798656 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:9970 obesity ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19151714 11798691 NXPH1 neurexophilin 1 gene DOID:630 genetic disease ISO RGD:737134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798698 TMEM19 transmembrane protein 19 gene DOID:630 genetic disease ISO RGD:1351529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798723 MAMDC4 MAM domain containing 4 gene DOID:0050777 Joubert syndrome ISO RGD:1604980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11798723 MAMDC4 MAM domain containing 4 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1604980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11798723 MAMDC4 MAM domain containing 4 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1604980 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11798723 MAMDC4 MAM domain containing 4 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1604980 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11798723 MAMDC4 MAM domain containing 4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1604980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11798723 MAMDC4 MAM domain containing 4 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1604980 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11798723 MAMDC4 MAM domain containing 4 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1604980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 11798723 MAMDC4 MAM domain containing 4 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1604980 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11798723 MAMDC4 MAM domain containing 4 gene DOID:0081097 Rafiq syndrome ISO RGD:1604980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11798723 MAMDC4 MAM domain containing 4 gene DOID:3652 Leigh disease ISO RGD:1604980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11798723 MAMDC4 MAM domain containing 4 gene DOID:630 genetic disease ISO RGD:1604980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798723 MAMDC4 MAM domain containing 4 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1604980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11798770 CERS6 ceramide synthase 6 gene DOID:0080600 COVID-19 ISO RGD:1343383 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11798770 CERS6 ceramide synthase 6 gene DOID:303 substance-related disorder ISO RGD:1343383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11798770 CERS6 ceramide synthase 6 gene DOID:630 genetic disease ISO RGD:1343383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798786 PSMD1 proteasome 26S subunit, non-ATPase 1 gene DOID:0060476 Perlman syndrome ISO RGD:734088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11798786 PSMD1 proteasome 26S subunit, non-ATPase 1 gene DOID:0110991 Joubert syndrome 22 ISO RGD:734088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11798786 PSMD1 proteasome 26S subunit, non-ATPase 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:734088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:29127258 11798786 PSMD1 proteasome 26S subunit, non-ATPase 1 gene DOID:630 genetic disease ISO RGD:734088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798815 PHF1 PHD finger protein 1 gene DOID:0050553 JMP syndrome ISO RGD:1344150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11798815 PHF1 PHD finger protein 1 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1344150 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 11798815 PHF1 PHD finger protein 1 gene DOID:630 genetic disease ISO RGD:1344150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798845 ZBTB25 zinc finger and BTB domain containing 25 gene DOID:627 severe combined immunodeficiency ISO RGD:1344853 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 11798845 ZBTB25 zinc finger and BTB domain containing 25 gene DOID:630 genetic disease ISO RGD:1344853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11798869 TPD52L3 TPD52 like 3 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1606756 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 11798869 TPD52L3 TPD52 like 3 gene DOID:630 genetic disease ISO RGD:1606756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798885 NIBAN1 niban apoptosis regulator 1 gene DOID:13580 cholestasis ISO RGD:736616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 11798885 NIBAN1 niban apoptosis regulator 1 gene DOID:1540 parathyroid carcinoma ISO RGD:736616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11798885 NIBAN1 niban apoptosis regulator 1 gene DOID:630 genetic disease ISO RGD:736616 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798885 NIBAN1 niban apoptosis regulator 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11798903 SMTNL2 smoothelin like 2 gene DOID:630 genetic disease ISO RGD:1605229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798915 EEF1G eukaryotic translation elongation factor 1 gamma gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1349957 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11798915 EEF1G eukaryotic translation elongation factor 1 gamma gene DOID:1059 intellectual disability ISO RGD:1349957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11798915 EEF1G eukaryotic translation elongation factor 1 gamma gene DOID:630 genetic disease ISO RGD:1349957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798930 SYNDIG1 synapse differentiation inducing 1 gene DOID:630 genetic disease ISO RGD:1321842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798950 PSMD12 proteasome 26S subunit, non-ATPase 12 gene DOID:0070165 spermatogenic failure 18 ISO RGD:1348717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 18 11798950 PSMD12 proteasome 26S subunit, non-ATPase 12 gene DOID:1059 intellectual disability ISO RGD:1348717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11798950 PSMD12 proteasome 26S subunit, non-ATPase 12 gene DOID:2773 contact dermatitis ISO RGD:1348717 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11798950 PSMD12 proteasome 26S subunit, non-ATPase 12 gene DOID:630 genetic disease ISO RGD:1348717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11798950 PSMD12 proteasome 26S subunit, non-ATPase 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348717 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11798950 PSMD12 proteasome 26S subunit, non-ATPase 12 gene DOID:9006298 Stankiewicz-Isidor Syndrome ISO RGD:1348717 D RGD:7240710 20190315 OMIM 11798950 PSMD12 proteasome 26S subunit, non-ATPase 12 gene DOID:9006298 Stankiewicz-Isidor Syndrome ISO RGD:1348717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stankiewicz-Isidor syndrome PMID:25741868|PMID:28132691 11798950 PSMD12 proteasome 26S subunit, non-ATPase 12 gene DOID:9008086 Developmental Disabilities ISO RGD:1348717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11798965 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:0050549 Saldino-Noonan syndrome ISO RGD:1606227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Saldino-Noonan Syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome Saldino-Noonan type PMID:19442771|PMID:23339108|PMID:23456818|PMID:25741868|PMID:28492532|PMID:29068549 11798965 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1606227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:16199547|PMID:17576681|PMID:19361615|PMID:19442771|PMID:21211617|PMID:22499340|PMID:23339108|PMID:23456818|PMID:24033266|PMID:24123776|PMID:24759409|PMID:24781753|PMID:25356970|PMID:25492405|PMID:25741868|PMID:25982780|PMID:26826164|PMID:26938784|PMID:27925158|PMID:28492532|PMID:28832562|PMID:28973083|PMID:29068549|PMID:29096039|PMID:29453417|PMID:29620724|PMID:29947050|PMID:30655312|PMID:30773290|PMID:31413057|PMID:31415973|PMID:31943948|PMID:32494556|PMID:32753734|PMID:33875766|PMID:9536098 11798965 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:0080006 bone development disease ISO RGD:1606227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 11798965 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1606227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:19442771|PMID:23339108|PMID:23456818|PMID:25741868|PMID:28492532|PMID:29068549 11798965 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1606227 D RGD:7240710 20180130 OMIM 11798965 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1606227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 | ClinVar Annotator: match by term: DYNC2H1-Related Disorder | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly PMID:16199547|PMID:17576681|PMID:19361615|PMID:19442771|PMID:21211617|PMID:22499340|PMID:23339108|PMID:23456818|PMID:24033266|PMID:24123776|PMID:24759409|PMID:25326635|PMID:25356970|PMID:25741868|PMID:25741887|PMID:25741891|PMID:26826164|PMID:26938784|PMID:27925158|PMID:28492532|PMID:28832562|PMID:28973083|PMID:29068549|PMID:29453417|PMID:29947050|PMID:30655312|PMID:30773290|PMID:31415973|PMID:31943948|PMID:32494556|PMID:32753734|PMID:33532864|PMID:33875766|PMID:9536098 11798965 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1606227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:16199547|PMID:23339108|PMID:25741868|PMID:26938784|PMID:28492532|PMID:29068549|PMID:32753734 11798965 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1606227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:16199547|PMID:23339108|PMID:28492532|PMID:29068549|PMID:32753734 11798965 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:10487 Hirschsprung's disease ISO RGD:1606227 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868|PMID:28492532 11798965 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1606227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa PMID:32753734 11798965 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:1059 intellectual disability ISO RGD:1606227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:22499340|PMID:25741868|PMID:26938784|PMID:28492532|PMID:28832562|PMID:29068549|PMID:29453417 11798965 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1606227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11798965 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:1606227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal respiratory distress PMID:25741868|PMID:28492532|PMID:29068549 11798965 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:14679 VACTERL association ISO RGD:735308 D RGD:9068941 20220825 MouseDO OMIM:192350 | OMIM:276950 11798965 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:1682 congenital heart disease ISO RGD:1606227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868|PMID:29458881|PMID:31680349 11798965 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:630 genetic disease ISO RGD:1606227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19442771|PMID:23339108|PMID:25356970|PMID:25741868|PMID:28492532|PMID:28973083|PMID:9536098 11798965 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1606227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intrauterine growth restriction PMID:19442771|PMID:23339108|PMID:23456818|PMID:25741868|PMID:28492532|PMID:29068549 11798965 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:9005616 Micrognathism ISO RGD:1606227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:25741868 11798965 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:9007073 Cough ISO RGD:1606227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cough PMID:25741868|PMID:28492532|PMID:29068549 11798965 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1606227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25330770 11798965 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:9249 Beemer-Langer syndrome ISO RGD:1606227 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome PMID:25741868|PMID:26826164|PMID:28492532|PMID:29068549 11799062 C9H9orf57 chromosome 9 C9orf57 homolog gene DOID:630 genetic disease ISO RGD:1342941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11799069 R3HDM1 R3H domain containing 1 gene DOID:0060591 WHIM syndrome 1 ISO RGD:1316725 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:28492532 11799069 R3HDM1 R3H domain containing 1 gene DOID:630 genetic disease ISO RGD:1316725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11799135 CCL16 C-C motif chemokine ligand 16 gene DOID:630 genetic disease ISO RGD:1352726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11799135 CCL16 C-C motif chemokine ligand 16 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:1352726 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:23593305|REF_RGD_ID:38508895 11799142 AGTPBP1 ATP/GTP binding carboxypeptidase 1 gene DOID:630 genetic disease ISO RGD:1314853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11799142 AGTPBP1 ATP/GTP binding carboxypeptidase 1 gene DOID:9000084 Childhood-Onset Neurodegeneration with Cerebellar Atrophy ISO RGD:1314853 D RGD:7240710 20190501 OMIM 11799142 AGTPBP1 ATP/GTP binding carboxypeptidase 1 gene DOID:9000084 Childhood-Onset Neurodegeneration with Cerebellar Atrophy ISO RGD:1314853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with cerebellar atrophy PMID:25741868|PMID:30420557|PMID:33624935 11799142 AGTPBP1 ATP/GTP binding carboxypeptidase 1 gene DOID:9002955 Nerve Degeneration ISO RGD:1314853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16952463 11799142 AGTPBP1 ATP/GTP binding carboxypeptidase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1314853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11799142 AGTPBP1 ATP/GTP binding carboxypeptidase 1 gene DOID:9009220 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES ISO RGD:1314853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures PMID:25741868|PMID:30420557 11799179 RMND5A required for meiotic nuclear division 5 homolog A gene DOID:630 genetic disease ISO RGD:1604311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11799179 RMND5A required for meiotic nuclear division 5 homolog A gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1604311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 11799194 ZBTB41 zinc finger and BTB domain containing 41 gene DOID:0110358 retinitis pigmentosa 12 ISO RGD:1603485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 12 PMID:10508521|PMID:17964524|PMID:22065545|PMID:23379534|PMID:25412400|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521 11799194 ZBTB41 zinc finger and BTB domain containing 41 gene DOID:1540 parathyroid carcinoma ISO RGD:1603485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11799194 ZBTB41 zinc finger and BTB domain containing 41 gene DOID:630 genetic disease ISO RGD:1603485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11799194 ZBTB41 zinc finger and BTB domain containing 41 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11799209 RAB5IF RAB5 interacting factor gene DOID:0060249 scoliosis ISO RGD:1317125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:24194475|PMID:35614220 11799209 RAB5IF RAB5 interacting factor gene DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome ISO RGD:1317125 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome PMID:24194475|PMID:35614220 11799209 RAB5IF RAB5 interacting factor gene DOID:0081125 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 ISO RGD:1317125 D RGD:7240710 20220810 OMIM 11799209 RAB5IF RAB5 interacting factor gene DOID:0081125 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 ISO RGD:1317125 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 PMID:24194475|PMID:35614220 11799209 RAB5IF RAB5 interacting factor gene DOID:1059 intellectual disability ISO RGD:1317125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:24194475|PMID:35614220 11799209 RAB5IF RAB5 interacting factor gene DOID:2234 focal epilepsy ISO RGD:1317125 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11799209 RAB5IF RAB5 interacting factor gene DOID:9003133 Hypertelorism ISO RGD:1317125 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:24194475|PMID:35614220 11799209 RAB5IF RAB5 interacting factor gene DOID:9003816 Macrocephaly ISO RGD:1317125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:24194475|PMID:35614220 11799209 RAB5IF RAB5 interacting factor gene DOID:9005616 Micrognathism ISO RGD:1317125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:24194475|PMID:35614220 11799218 APMAP adipocyte plasma membrane associated protein gene DOID:630 genetic disease ISO RGD:1318897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11799218 APMAP adipocyte plasma membrane associated protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11799291 ATP2C2 ATPase secretory pathway Ca2+ transporting 2 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:732511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 11799291 ATP2C2 ATPase secretory pathway Ca2+ transporting 2 gene DOID:630 genetic disease ISO RGD:732511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11799325 ENTREP1 endosomal transmembrane epsin interactor 1 gene DOID:10283 prostate cancer ISO RGD:1316770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11799325 ENTREP1 endosomal transmembrane epsin interactor 1 gene DOID:630 genetic disease ISO RGD:1316770 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11799339 CCDC25 coiled-coil domain containing 25 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1605370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11799339 CCDC25 coiled-coil domain containing 25 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1605370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11799339 CCDC25 coiled-coil domain containing 25 gene DOID:630 genetic disease ISO RGD:1605370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11799369 SLC16A4 solute carrier family 16 member 4 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1348929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 11799369 SLC16A4 solute carrier family 16 member 4 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1348929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11799369 SLC16A4 solute carrier family 16 member 4 gene DOID:12849 autistic disorder ISO RGD:1348929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11799369 SLC16A4 solute carrier family 16 member 4 gene DOID:630 genetic disease ISO RGD:1348929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11799387 PIERCE2 piercer of microtubule wall 2 gene DOID:0060833 Griscelli syndrome type 2 ISO RGD:7245658 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 2 PMID:28492532 11799387 PIERCE2 piercer of microtubule wall 2 gene DOID:2717 Bloom syndrome ISO RGD:7245658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11799387 PIERCE2 piercer of microtubule wall 2 gene DOID:9256 colorectal cancer ISO RGD:7245658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11799393 MYBPC3 myosin binding protein C3 gene DOID:0050451 Brugada syndrome ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:12707239|PMID:18533079|PMID:20215591|PMID:21499742|PMID:21832025|PMID:21832052|PMID:21835320|PMID:22361390|PMID:23861362|PMID:24033266|PMID:24111713|PMID:25132132|PMID:25351510|PMID:25741868|PMID:26914223|PMID:28492532 11799393 MYBPC3 myosin binding protein C3 gene DOID:0050451 Brugada syndrome ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:12707239|PMID:18533079|PMID:20215591|PMID:21499742|PMID:21832025|PMID:21832052|PMID:21835320|PMID:22361390|PMID:23861362|PMID:24033266|PMID:24111713|PMID:25132132|PMID:25351510|PMID:25741868|PMID:26914223|PMID:28356264|PMID:28492532 11799393 MYBPC3 myosin binding protein C3 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis PMID:11499719|PMID:12974739|PMID:15519027|PMID:17560888|PMID:22464770|PMID:22763267|PMID:22995991|PMID:23217326|PMID:23233322|PMID:23820649|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26332594|PMID:28492532 11799393 MYBPC3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17386157|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20298698|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:20975235|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23785128|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26743238 11799393 MYBPC3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27854218|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28450932|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:2943217|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29555771|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30985088|PMID:31006259|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31293105|PMID:3140859|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31589614|PMID:31737537|PMID:31918855|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32123317|PMID:32163302|PMID:32396390|PMID:32451163|PMID:32480058|PMID:32492895|PMID:32543992|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32880476|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33407484|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34540771|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 11799393 MYBPC3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23785128|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25640679|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621 11799393 MYBPC3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:27000522|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28265379|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:2943217|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29524613|PMID:29555771|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29988065|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30985088|PMID:31006259|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31293105|PMID:3140859|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31589614|PMID:31730716|PMID:31737537|PMID:31918855|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32396390|PMID:32451163|PMID:32480058|PMID:32492895|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32880476|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34540771|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 11799393 MYBPC3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25640679|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26654849 11799393 MYBPC3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29524613|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31323898|PMID:31376648|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32356610|PMID:32369506|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33432171|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34540771|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 11799393 MYBPC3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29524613|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31323898|PMID:31376648|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32356610|PMID:32369506|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33432171|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34540771|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 11799393 MYBPC3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:20975235|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198 11799393 MYBPC3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31376648|PMID:31397097|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32901917|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33658040|PMID:33673806|PMID:33782553|PMID:34011823|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34935411|PMID:35535697|PMID:35626289|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 11799393 MYBPC3 myosin binding protein C3 gene DOID:0060319 cardiac arrest ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:14563344|PMID:15519027|PMID:16352453|PMID:20624503|PMID:22361390|PMID:23140321|PMID:23299917|PMID:23785128|PMID:24033266|PMID:24503780|PMID:24510615|PMID:25163546|PMID:25741868|PMID:28492532|PMID:33035702 11799393 MYBPC3 myosin binding protein C3 gene DOID:0060480 left ventricular noncompaction ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:14563344|PMID:15519027|PMID:16061003|PMID:16352453|PMID:17560888|PMID:18533079|PMID:18929575|PMID:19574547|PMID:19666645|PMID:19808356|PMID:20019025|PMID:20031619|PMID:20045868|PMID:20624503|PMID:21511876|PMID:21939669|PMID:22115648|PMID:22361390|PMID:22455086|PMID:23140321|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23674513|PMID:23711808|PMID:23740383|PMID:23785128|PMID:24033266|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25163546|PMID:25351510|PMID:25611685|PMID:25741868|PMID:25856671|PMID:26090888|PMID:26163040|PMID:27532257|PMID:27841901|PMID:28031081|PMID:28193612|PMID:28202948|PMID:28323875|PMID:28492532|PMID:28518168|PMID:28679633|PMID:29121657|PMID:29398688|PMID:29555771|PMID:29907873|PMID:30297972|PMID:31699567|PMID:31918855|PMID:32492895|PMID:33035702 11799393 MYBPC3 myosin binding protein C3 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:24033266|PMID:25741868|PMID:28492532|PMID:28600387 11799393 MYBPC3 myosin binding protein C3 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:24033266|PMID:25741868|PMID:28492532|PMID:28600387 11799393 MYBPC3 myosin binding protein C3 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1314284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11799393 MYBPC3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27153395|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763 11799393 MYBPC3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29247119|PMID:29367541|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29773157|PMID:29875314|PMID:29875424|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30297972|PMID:30446606|PMID:30550750|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31333075|PMID:31513939|PMID:31568572|PMID:31737537|PMID:32009526|PMID:32163302|PMID:32451163|PMID:32746448|PMID:32880476|PMID:33673806|PMID:34097875|PMID:34137518|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053 11799393 MYBPC3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27153395|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168 11799393 MYBPC3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31293105|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31980526|PMID:32009526|PMID:32123317|PMID:32163302|PMID:32451163|PMID:32480058|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32880476|PMID:33190526|PMID:33258288|PMID:33673806|PMID:34097875|PMID:34135346|PMID:34137518|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053 11799393 MYBPC3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31293105|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31931689|PMID:31980526|PMID:32009526|PMID:32123317|PMID:32163302|PMID:32451163|PMID:32480058|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32880476|PMID:33190526|PMID:33258288|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053 11799393 MYBPC3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612 11799393 MYBPC3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28214152|PMID:28241245|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32250699|PMID:32341788|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32492895|PMID:32531501|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34588271|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053 11799393 MYBPC3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28214152|PMID:28241245|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32250699|PMID:32341788|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32492895|PMID:32531501|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35535697|PMID:35626289|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053 11799393 MYBPC3 myosin binding protein C3 gene DOID:0080502 GM1 gangliosidosis type 1 ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gangliosidosis, generalized GM1, infantile form PMID:18403758|PMID:18761664|PMID:20378854|PMID:23549607|PMID:24033266|PMID:25228707|PMID:25326637|PMID:25335496|PMID:27532257|PMID:28420666|PMID:28492532|PMID:30924982|PMID:31006259 11799393 MYBPC3 myosin binding protein C3 gene DOID:0081158 dilated cardiomyopathy 1MM ISO RGD:1314284 D RGD:7240710 20180130 OMIM 11799393 MYBPC3 myosin binding protein C3 gene DOID:0081158 dilated cardiomyopathy 1MM ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1MM | ClinVar Annotator: match by term: Left ventricular noncompaction 10 PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17908752|PMID:17937428|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22555271|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24327208|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24793961|PMID:24810389|PMID:24835277|PMID:24865491|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26743238|PMID:26822237|PMID:26914223|PMID:26936621|PMID:27096365|PMID:27108529|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465 11799393 MYBPC3 myosin binding protein C3 gene DOID:0081158 dilated cardiomyopathy 1MM ISO RGD:1314284 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1MM | ClinVar Annotator: match by term: Left ventricular noncompaction 10 PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28658286|PMID:28679633|PMID:28747690|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30282064|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30685992|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30924982|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31199839|PMID:31219556|PMID:31323898|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31699567|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32356610|PMID:32396390|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33782553|PMID:34088380|PMID:34097875|PMID:34137518|PMID:34389451|PMID:34426522|PMID:34540771|PMID:34935411|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 11799393 MYBPC3 myosin binding protein C3 gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:15519027|PMID:18533079|PMID:20414521|PMID:20624503|PMID:21415409|PMID:21835320|PMID:22765922|PMID:23233322|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24093860|PMID:25524337|PMID:25741868|PMID:25971843|PMID:26090888|PMID:27267291|PMID:28420666|PMID:28492532|PMID:28518168|PMID:30446606|PMID:30645170|PMID:30731207|PMID:30871747|PMID:30972196|PMID:31376648|PMID:31453232 11799393 MYBPC3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25163546|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25558701|PMID:25569433|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27153395|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:2943217|PMID:29447731 11799393 MYBPC3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29663722|PMID:29686099|PMID:29759671|PMID:29790872|PMID:29875314|PMID:29875424|PMID:30025578|PMID:30165862|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31980526|PMID:32009526|PMID:32123317|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32880476|PMID:33190526|PMID:33258288|PMID:33673806|PMID:34097875|PMID:34135346|PMID:34137518|PMID:397516074|PMID:7493025|PMID:7493026|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053 11799393 MYBPC3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25163546|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25640679|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27153395|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:2943217 11799393 MYBPC3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29663722|PMID:29686099|PMID:29759671|PMID:29790872|PMID:29875314|PMID:29875424|PMID:30025578|PMID:30165862|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31980526|PMID:32009526|PMID:32123317|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32880476|PMID:33190526|PMID:33258288|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053 11799393 MYBPC3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32250699|PMID:32341788|PMID:32420109|PMID:32451163|PMID:32492895|PMID:32531501|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34588271|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053 11799393 MYBPC3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17224687|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25163546|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997 11799393 MYBPC3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32250699|PMID:32341788|PMID:32420109|PMID:32451163|PMID:32492895|PMID:32531501|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35535697|PMID:35626289|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053 11799393 MYBPC3 myosin binding protein C3 gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:1314284 D RGD:7240710 20180130 OMIM 11799393 MYBPC3 myosin binding protein C3 gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 4, susceptibility to | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11835941|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12881443|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15358028|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15856146|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17386157|PMID:17394878|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20542340|PMID:20605413|PMID:20624503|PMID:20641121|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21799269|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22989827|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716 11799393 MYBPC3 myosin binding protein C3 gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 4, susceptibility to | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27114410|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28749478|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:2921289|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29451820|PMID:29493010|PMID:29511324|PMID:29517769|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32341788|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32860008|PMID:32880476|PMID:32901917|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33658040|PMID:33673806|PMID:33782553|PMID:34008892|PMID:34088380|PMID:34097875|PMID:34137518|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34542152|PMID:34598319|PMID:34935411|PMID:35535697|PMID:35626289|PMID:397516074|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:8655135|PMID:9048664|PMID:9218526|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 11799393 MYBPC3 myosin binding protein C3 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:11499718|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:15519027|PMID:16199542|PMID:16858239|PMID:17560888|PMID:20045868|PMID:20215591|PMID:20435227|PMID:20474083|PMID:22337857|PMID:22763267|PMID:22958901|PMID:23283745|PMID:23299917|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24510615|PMID:24621997|PMID:24865491|PMID:25326637|PMID:25377941|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332594|PMID:26458567|PMID:26467025|PMID:27600940|PMID:28420666|PMID:28492532|PMID:28679633|PMID:31931689|PMID:31983221|PMID:33432171 11799393 MYBPC3 myosin binding protein C3 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:11499718|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:15519027|PMID:16199542|PMID:16858239|PMID:17560888|PMID:20045868|PMID:20215591|PMID:20435227|PMID:20474083|PMID:22337857|PMID:22763267|PMID:22958901|PMID:23283745|PMID:23299917|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24510615|PMID:24621997|PMID:24865491|PMID:25377941|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332594|PMID:26458567|PMID:26467025|PMID:27600940|PMID:28420666|PMID:28492532|PMID:28679633|PMID:31931689|PMID:31983221|PMID:33432171 11799393 MYBPC3 myosin binding protein C3 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1314284 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:10521296|PMID:10610770|PMID:12110947|PMID:12117842|PMID:12386147|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:14563344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15519027|PMID:16199542|PMID:16651346|PMID:16831826|PMID:16858239|PMID:17576681|PMID:18403758|PMID:18414213|PMID:18533079|PMID:18761664|PMID:19035361|PMID:19150014|PMID:19574547|PMID:20378854|PMID:20433692|PMID:2073894|PMID:20738943|PMID:21239446|PMID:21302287|PMID:21472310|PMID:21835320|PMID:21839045|PMID:22057632|PMID:22267749|PMID:22765922|PMID:22857948|PMID:23054336|PMID:23233322|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24510615|PMID:24774285|PMID:24793961|PMID:25031304|PMID:25078086|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26822237|PMID:27483260|PMID:27532257|PMID:28492532|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28658286|PMID:28679633|PMID:29030401|PMID:29121657|PMID:29511324|PMID:29790872|PMID:30609409|PMID:30645170|PMID:31006259|PMID:31447099|PMID:31514951|PMID:32686758|PMID:32731933|PMID:32841044|PMID:9048664|PMID:9536098|PMID:9631872 11799393 MYBPC3 myosin binding protein C3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 11799393 MYBPC3 myosin binding protein C3 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:1314284 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 PMID:11499718|PMID:12881443|PMID:12951062|PMID:15358028|PMID:15519027|PMID:15856146|PMID:16715312|PMID:18403758|PMID:18409188|PMID:18957093|PMID:19150014|PMID:19659763|PMID:20019025|PMID:20624503|PMID:21185001|PMID:21239446|PMID:21638988|PMID:22267749|PMID:22455086|PMID:22857948|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24510615|PMID:24704860|PMID:25031304|PMID:25741868|PMID:26671970|PMID:27532257|PMID:27688314|PMID:27737317|PMID:28024942|PMID:28492532|PMID:28615295|PMID:29121657|PMID:29447731|PMID:30847666|PMID:30871747|PMID:31447099|PMID:33673806|PMID:35535697|PMID:8655135|PMID:9562578 11799393 MYBPC3 myosin binding protein C3 gene DOID:10487 Hirschsprung's disease ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon PMID:25741868 11799393 MYBPC3 myosin binding protein C3 gene DOID:1059 intellectual disability ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:15519027|PMID:16199547|PMID:18957093|PMID:19574547|PMID:21750094|PMID:22267749|PMID:23674513|PMID:24033266|PMID:24510615|PMID:25525159|PMID:25637381|PMID:25741868|PMID:27096365|PMID:27532257|PMID:27831900|PMID:28492532|PMID:29029073 11799393 MYBPC3 myosin binding protein C3 gene DOID:1059 intellectual disability ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:15519027|PMID:16199547|PMID:18957093|PMID:19574547|PMID:21750094|PMID:22267749|PMID:23674513|PMID:24033266|PMID:24510615|PMID:25525159|PMID:25637381|PMID:25741868|PMID:27096365|PMID:27532257|PMID:27831900|PMID:28492532|PMID:29029073|PMID:31447099|PMID:32686758|PMID:33258288 11799393 MYBPC3 myosin binding protein C3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11835941|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386140|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15370892|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16799241|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17386157|PMID:17394878|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17643520|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18803133|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19406073|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19763152|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20021930|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20307669|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20594303|PMID:20605413|PMID:20624503|PMID:20641121|PMID:20689143|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21896538|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22314326|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22406018|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22989827|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23406853|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25228707|PMID:25262865|PMID:25281569|PMID:25326637|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708 11799393 MYBPC3 myosin binding protein C3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25447171|PMID:25512492|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27066507|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28450932|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28694399|PMID:28699631|PMID:28747690|PMID:28749478|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28822653|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:2921289|PMID:29212898|PMID:29219260|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29415625|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29451820|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29631964|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30924982|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31112421|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32341788|PMID:32344918|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32764337|PMID:32815737 11799393 MYBPC3 myosin binding protein C3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:32826072|PMID:32830170|PMID:32841044|PMID:32860008|PMID:32880476|PMID:32901917|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33586461|PMID:33658040|PMID:33673806|PMID:33782553|PMID:34011823|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35508642|PMID:35535697|PMID:35626289|PMID:397516074|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9218526|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541100|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 11799393 MYBPC3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29875424|PMID:30165862|PMID:30972196|PMID:31006259|PMID:31028938|PMID:32009526|PMID:9048664|PMID:9562578 11799393 MYBPC3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29875424|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31447099|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32686758|PMID:9048664|PMID:9562578 11799393 MYBPC3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29875424|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31447099|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32686758|PMID:33782553|PMID:34097875|PMID:9048664|PMID:9562578 11799393 MYBPC3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:33190526|PMID:33432171|PMID:33782553|PMID:34097875|PMID:34389451|PMID:9048664|PMID:9562578 11799393 MYBPC3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:33190526|PMID:33432171|PMID:33782553|PMID:34097875|PMID:34389451|PMID:7493025|PMID:8533079|PMID:9048664|PMID:9562578 11799393 MYBPC3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:33190526|PMID:33432171|PMID:33782553|PMID:34097875|PMID:34389451|PMID:34935411|PMID:7493025|PMID:8533079|PMID:9048664|PMID:9562578 11799393 MYBPC3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27885498|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:32841044|PMID:33190526|PMID:33432171|PMID:33782553|PMID:34097875|PMID:34389451|PMID:34426522|PMID:34935411|PMID:7493025|PMID:8533079|PMID:9048664|PMID:9562578 11799393 MYBPC3 myosin binding protein C3 gene DOID:2843 long QT syndrome ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:16335287|PMID:16715312|PMID:18533079|PMID:18957093|PMID:19574547|PMID:19996403|PMID:20215591|PMID:20458009|PMID:20624503|PMID:20800588|PMID:21310275|PMID:22429680|PMID:22763267|PMID:22857948|PMID:22958901|PMID:23140321|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24721642|PMID:25163546|PMID:25342278|PMID:25524337|PMID:25741868|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27532257|PMID:28492532|PMID:28679633|PMID:28771489|PMID:30297972|PMID:32746448|PMID:33673806 11799393 MYBPC3 myosin binding protein C3 gene DOID:2843 long QT syndrome ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16335287|PMID:16715312|PMID:18533079|PMID:18957093|PMID:19574547|PMID:19996403|PMID:20215591|PMID:20458009|PMID:20624503|PMID:20800588|PMID:21310275|PMID:22429680|PMID:22763267|PMID:22857948|PMID:22958901|PMID:23140321|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24721642|PMID:25163546|PMID:25342278|PMID:25524337|PMID:25741868|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27532257|PMID:28138913|PMID:28492532|PMID:28679633|PMID:28771489|PMID:29255176|PMID:29853478|PMID:30297972|PMID:30847666|PMID:31323898|PMID:32746448|PMID:33673806|PMID:33782553 11799393 MYBPC3 myosin binding protein C3 gene DOID:3322 GM1 gangliosidosis ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GLB1 deficiency PMID:18403758|PMID:18761664|PMID:20378854|PMID:23549607|PMID:24033266|PMID:25228707|PMID:25326637|PMID:25335496|PMID:27532257|PMID:28420666|PMID:28492532|PMID:30924982|PMID:31006259 11799393 MYBPC3 myosin binding protein C3 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1314284 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:16858239|PMID:18533079|PMID:19150014|PMID:20031602|PMID:20173211|PMID:20414521|PMID:20624503|PMID:20800588|PMID:21415409|PMID:21750094|PMID:21835320|PMID:22765922|PMID:23233322|PMID:23299917|PMID:23508784|PMID:23690394|PMID:24033266|PMID:24093860|PMID:24793961|PMID:25351510|PMID:25524337|PMID:25741868|PMID:25971843|PMID:26090888|PMID:27108529|PMID:27267291|PMID:27483260|PMID:27532257|PMID:27590665|PMID:27600940|PMID:28193612|PMID:28241245|PMID:28356264|PMID:28420666|PMID:28492532|PMID:28518168|PMID:28798025|PMID:28840316|PMID:28986452|PMID:30297972|PMID:30446606|PMID:30645170|PMID:30731207|PMID:30871747|PMID:30972196|PMID:31376648|PMID:31453232|PMID:31941943 11799393 MYBPC3 myosin binding protein C3 gene DOID:574 peripheral nervous system disease ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:22958901|PMID:24793961|PMID:25741868|PMID:27532257|PMID:28492532|PMID:33782553 11799393 MYBPC3 myosin binding protein C3 gene DOID:630 genetic disease ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17937428|PMID:18258667|PMID:18403758|PMID:18467358|PMID:19574547|PMID:19808356|PMID:21750094|PMID:21835286|PMID:23054336|PMID:24033266|PMID:24503780|PMID:24510615|PMID:25031304|PMID:25351510|PMID:25635128|PMID:25741868|PMID:26914223|PMID:27532257|PMID:28214152|PMID:28492532|PMID:29121657|PMID:29212898|PMID:30297972|PMID:30847666|PMID:31447099|PMID:32880476|PMID:7493025 11799393 MYBPC3 myosin binding protein C3 gene DOID:870 neuropathy ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:22958901|PMID:24793961|PMID:25741868|PMID:27532257|PMID:28492532|PMID:33782553 11799393 MYBPC3 myosin binding protein C3 gene DOID:9000299 cardiac amyloidosis ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY PMID:11499719|PMID:12974739|PMID:15519027|PMID:17560888|PMID:22464770|PMID:22763267|PMID:22995991|PMID:23217326|PMID:23233322|PMID:23820649|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26332594|PMID:28492532 11799393 MYBPC3 myosin binding protein C3 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:12707239|PMID:12818575|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16199542|PMID:18258667|PMID:18403758|PMID:18409188|PMID:18761664|PMID:18809796|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20378854|PMID:20624503|PMID:20800588|PMID:20818890|PMID:21310275|PMID:21551322|PMID:21839045|PMID:21959974|PMID:22267749|PMID:22386539|PMID:22563033|PMID:22589294|PMID:22958901|PMID:23299917|PMID:23396983|PMID:23642604|PMID:23690394|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24510615|PMID:24793961|PMID:24810389|PMID:25058872|PMID:25132132|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26633542|PMID:27532257|PMID:27600940|PMID:27831900|PMID:27885498|PMID:28408708|PMID:28416588|PMID:28492532|PMID:28679633|PMID:29121657|PMID:29875424|PMID:30316040|PMID:30471092|PMID:30611859|PMID:30847666|PMID:30924982|PMID:31006259|PMID:31333075|PMID:31447099|PMID:31568572|PMID:31980526|PMID:32686758|PMID:32841044|PMID:33495597|PMID:34426522|PMID:34540771|PMID:9562578 11799393 MYBPC3 myosin binding protein C3 gene DOID:9000590 Dyspnea ISO RGD:1314284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dyspnea PMID:17576681|PMID:20433692|PMID:20800588|PMID:23283745|PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532|PMID:28679633|PMID:2943217|PMID:30645170|PMID:30775854|PMID:9536098 11799393 MYBPC3 myosin binding protein C3 gene DOID:9000596 Isolated Noncompaction of the Ventricular Myocardium ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated Noncompaction of the Ventricular Myocardium PMID:25741868 11799393 MYBPC3 myosin binding protein C3 gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial amyloid polyneuropathy PMID:11499719|PMID:12974739|PMID:15519027|PMID:17560888|PMID:22464770|PMID:22763267|PMID:22995991|PMID:23217326|PMID:23233322|PMID:23820649|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26332594|PMID:28492532 11799393 MYBPC3 myosin binding protein C3 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1314284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:15519027|PMID:16858239|PMID:17576681|PMID:18273486|PMID:18533079|PMID:20215591|PMID:21415409|PMID:21499742|PMID:21832025|PMID:21832052|PMID:21835320|PMID:22361390|PMID:22555271|PMID:23054336|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24510615|PMID:25031304|PMID:25351510|PMID:25740977|PMID:25741868|PMID:26914223|PMID:27483260|PMID:27532257|PMID:27688314|PMID:28138913|PMID:28356264|PMID:28492532|PMID:28658286|PMID:28679633|PMID:28824454|PMID:28916354|PMID:28971120|PMID:34137518|PMID:9536098 11799393 MYBPC3 myosin binding protein C3 gene DOID:9002554 Tachycardia ISO RGD:1314284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Tachycardia PMID:17576681|PMID:20433692|PMID:20800588|PMID:23283745|PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532|PMID:28679633|PMID:2943217|PMID:30645170|PMID:30775854|PMID:9536098 11799393 MYBPC3 myosin binding protein C3 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:12707239|PMID:18533079|PMID:20215591|PMID:21499742|PMID:21832025|PMID:21832052|PMID:21835320|PMID:22361390|PMID:23861362|PMID:24033266|PMID:24111713|PMID:25132132|PMID:25351510|PMID:25741868|PMID:26914223|PMID:28356264|PMID:28492532 11799393 MYBPC3 myosin binding protein C3 gene DOID:9003163 Heart Block ISO RGD:1314284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart | ClinVar Annotator: match by term: Heart block PMID:15519027|PMID:16858239|PMID:17576681|PMID:18273486|PMID:18533079|PMID:20215591|PMID:20433692|PMID:20800588|PMID:21415409|PMID:21499742|PMID:21832025|PMID:21832052|PMID:21835320|PMID:22361390|PMID:22555271|PMID:23054336|PMID:23283745|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24510615|PMID:25031304|PMID:25351510|PMID:25740977|PMID:25741868|PMID:26914223|PMID:27483260|PMID:27532257|PMID:27688314|PMID:28138913|PMID:28356264|PMID:28492532|PMID:28658286|PMID:28679633|PMID:28824454|PMID:28916354|PMID:28971120|PMID:2943217|PMID:30645170|PMID:30775854|PMID:34137518|PMID:9536098 11799393 MYBPC3 myosin binding protein C3 gene DOID:9003936 Cardiomegaly ISO RGD:1314284 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22189562 11799393 MYBPC3 myosin binding protein C3 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:11499719|PMID:12974739|PMID:15519027|PMID:16199542|PMID:16715312|PMID:16754800|PMID:18403758|PMID:18409188|PMID:18761664|PMID:18957093|PMID:19574547|PMID:20051424|PMID:20215591|PMID:21297165|PMID:21409595|PMID:21415409|PMID:21551322|PMID:21985754|PMID:22173300|PMID:22337857|PMID:22455086|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24774606|PMID:24795128|PMID:25031304|PMID:25335496|PMID:25351510|PMID:25637381|PMID:25741868|PMID:25892673|PMID:26223264|PMID:26271555|PMID:27066506|PMID:27435932|PMID:27532257|PMID:27576561|PMID:27600940|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28615295|PMID:28640247|PMID:29121657|PMID:29686099|PMID:30025578|PMID:30550750|PMID:30847666|PMID:31006259|PMID:31513939|PMID:31737537|PMID:33673806 11799393 MYBPC3 myosin binding protein C3 gene DOID:9006205 Animal Disease Models ISO RGD:1314284 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25566086 11799393 MYBPC3 myosin binding protein C3 gene DOID:9007 sudden infant death syndrome ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:11499718|PMID:11499719|PMID:12707239|PMID:15519027|PMID:24033266|PMID:24510615|PMID:24793961|PMID:25741868|PMID:26914223|PMID:27532257|PMID:28492532|PMID:29121657|PMID:30165862|PMID:31028938|PMID:9048664|PMID:9562578 11799393 MYBPC3 myosin binding protein C3 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:1314284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction | ClinVar Annotator: match by term: Ventricular extrasystoles PMID:11499718|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:15519027|PMID:16199542|PMID:16858239|PMID:17576681|PMID:20045868|PMID:20433692|PMID:20435227|PMID:20800588|PMID:23283745|PMID:23782526|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:27600940|PMID:28492532|PMID:28679633|PMID:2943217|PMID:30645170|PMID:30775854|PMID:9536098 11799393 MYBPC3 myosin binding protein C3 gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS PMID:11499718|PMID:12202917|PMID:15519027|PMID:20474083|PMID:20864638|PMID:23549607|PMID:24033266|PMID:24510615|PMID:25031304|PMID:25714468|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29875314|PMID:7493025 11799393 MYBPC3 myosin binding protein C3 gene DOID:9007614 Paroxysmal Atrial Fibrillation ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paroxysmal atrial fibrillation PMID:12818575|PMID:14563344|PMID:15114369|PMID:15519027|PMID:20215591|PMID:22194935|PMID:22958901|PMID:23299917|PMID:23418287|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24503780|PMID:25741868|PMID:27153395|PMID:27532257|PMID:28492532|PMID:29367541|PMID:29540472|PMID:32880476 11799393 MYBPC3 myosin binding protein C3 gene DOID:9007820 Sudden Death ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death 11799393 MYBPC3 myosin binding protein C3 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1314284 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20435227 11799432 TEX13A testis expressed 13A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11799432 TEX13A testis expressed 13A gene DOID:12849 autistic disorder ISO RGD:1352852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11799432 TEX13A testis expressed 13A gene DOID:630 genetic disease ISO RGD:1352852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11799443 CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:0060214 frontotemporal dementia and/or amyotrophic lateral sclerosis-2 ISO RGD:1347670 D RGD:7240710 20180130 OMIM 11799443 CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:0060214 frontotemporal dementia and/or amyotrophic lateral sclerosis-2 ISO RGD:1347670 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: FTDALS2 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 PMID:17576681|PMID:22535186|PMID:24934289|PMID:25113787|PMID:25155093|PMID:25193783|PMID:25261972|PMID:25348631|PMID:25428574|PMID:25576308|PMID:25681414|PMID:25700176|PMID:25726362|PMID:25741868|PMID:25833818|PMID:26152333|PMID:26224640|PMID:27810918|PMID:28492532|PMID:28585542|PMID:29112723|PMID:29121267|PMID:29315381|PMID:29540477|PMID:29789341|PMID:30014597|PMID:31690696|PMID:33749723|PMID:9536098 11799443 CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:0081135 agammaglobulinemia 2 ISO RGD:1347670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 11799443 CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:1826 epilepsy ISO RGD:1347670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11799443 CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1347670 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot disease PMID:25576308|PMID:25741868|PMID:28492532|PMID:29540477|PMID:30014597|PMID:31690696 11799443 CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:5419 schizophrenia ISO RGD:1347670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11799443 CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:630 genetic disease ISO RGD:1347670 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22535186|PMID:25155093|PMID:25428574|PMID:25576308|PMID:25700176|PMID:25726362|PMID:25741868|PMID:26224640|PMID:27810918|PMID:28492532|PMID:29315381|PMID:29540477|PMID:29789341|PMID:30014597|PMID:31690696 11799443 CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:9004598 Spinal Muscular Atrophy, Jokela Type ISO RGD:1347670 D RGD:7240710 20180130 OMIM 11799443 CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:9004598 Spinal Muscular Atrophy, Jokela Type ISO RGD:1347670 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, Jokela type | ClinVar Annotator: match by term: Spinal muscular atrophy, jokela type PMID:17576681|PMID:21715705|PMID:22535186|PMID:25113787|PMID:25155093|PMID:25193783|PMID:25261972|PMID:25348631|PMID:25428574|PMID:25576308|PMID:25681414|PMID:25700176|PMID:25726362|PMID:25741868|PMID:25833818|PMID:26152333|PMID:26224640|PMID:26719383|PMID:27066538|PMID:27810918|PMID:28492532|PMID:28585542|PMID:29112723|PMID:29121267|PMID:29315381|PMID:29540477|PMID:29789341|PMID:30014597|PMID:31690696|PMID:33749723|PMID:9536098 11799443 CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:9008878 MITOCHONDRIAL MYOPATHY, ISOLATED, AUTOSOMAL DOMINANT ISO RGD:1347670 D RGD:7240710 20180130 OMIM 11799443 CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:9008878 MITOCHONDRIAL MYOPATHY, ISOLATED, AUTOSOMAL DOMINANT ISO RGD:1347670 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Myopathy, isolated mitochondrial, autosomal dominant PMID:17576681|PMID:21715705|PMID:22535186|PMID:24934289|PMID:25113787|PMID:25155093|PMID:25193783|PMID:25261972|PMID:25348631|PMID:25428574|PMID:25576308|PMID:25681414|PMID:25700176|PMID:25726362|PMID:25741868|PMID:25833818|PMID:26152333|PMID:26224640|PMID:27066538|PMID:27810918|PMID:28492532|PMID:28585542|PMID:29112723|PMID:29121267|PMID:29315381|PMID:29540477|PMID:29789341|PMID:30014597|PMID:31690696|PMID:33749723|PMID:35700042|PMID:4104978|PMID:9536098 11799450 URB1 URB1 ribosome biogenesis homolog gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1353651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11799450 URB1 URB1 ribosome biogenesis homolog gene DOID:0060898 Parkinson's disease 20 ISO RGD:1353651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 11799450 URB1 URB1 ribosome biogenesis homolog gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1353651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11799450 URB1 URB1 ribosome biogenesis homolog gene DOID:630 genetic disease ISO RGD:1353651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11799450 URB1 URB1 ribosome biogenesis homolog gene DOID:9005698 ZTTK Syndrome ISO RGD:1353651 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 11799450 URB1 URB1 ribosome biogenesis homolog gene DOID:9006725 Glucocorticoid Deficiency 2 ISO RGD:1353651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucocorticoid deficiency 2 PMID:28492532 11799496 LOC100972613 G patch domain-containing protein 4 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11799496 LOC100972613 G patch domain-containing protein 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11799496 LOC100972613 G patch domain-containing protein 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11799496 LOC100972613 G patch domain-containing protein 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606544 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11799496 LOC100972613 G patch domain-containing protein 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1606544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11799496 LOC100972613 G patch domain-containing protein 4 gene DOID:5812 MHC class II deficiency ISO RGD:1606544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11799496 LOC100972613 G patch domain-containing protein 4 gene DOID:630 genetic disease ISO RGD:1606544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11799496 LOC100972613 G patch domain-containing protein 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11799508 HSPH1 heat shock protein family H (Hsp110) member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1323157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11799508 HSPH1 heat shock protein family H (Hsp110) member 1 gene DOID:630 genetic disease ISO RGD:1323157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11799541 CHSY3 chondroitin sulfate synthase 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603860 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11799541 CHSY3 chondroitin sulfate synthase 3 gene DOID:630 genetic disease ISO RGD:1603860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11799541 CHSY3 chondroitin sulfate synthase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11799541 CHSY3 chondroitin sulfate synthase 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603860 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11799549 CIAO3 cytosolic iron-sulfur assembly component 3 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1314335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 11799549 CIAO3 cytosolic iron-sulfur assembly component 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1314335 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11799549 CIAO3 cytosolic iron-sulfur assembly component 3 gene DOID:1826 epilepsy ISO RGD:1314335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11799549 CIAO3 cytosolic iron-sulfur assembly component 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1314335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11799549 CIAO3 cytosolic iron-sulfur assembly component 3 gene DOID:630 genetic disease ISO RGD:1314335 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11799549 CIAO3 cytosolic iron-sulfur assembly component 3 gene DOID:9002189 High Myopia ISO RGD:1314335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11799567 ATP6V0A2 ATPase H+ transporting V0 subunit a2 gene DOID:0050777 Joubert syndrome ISO RGD:1320849 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 11799567 ATP6V0A2 ATPase H+ transporting V0 subunit a2 gene DOID:0050778 Meckel syndrome ISO RGD:1320849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25741868 11799567 ATP6V0A2 ATPase H+ transporting V0 subunit a2 gene DOID:0070122 Meckel syndrome 8 ISO RGD:1320849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 8 PMID:25741868|PMID:28492532 11799567 ATP6V0A2 ATPase H+ transporting V0 subunit a2 gene DOID:0070134 autosomal recessive cutis laxa type IIA ISO RGD:1320849 D RGD:7240710 20180130 OMIM 11799567 ATP6V0A2 ATPase H+ transporting V0 subunit a2 gene DOID:0070134 autosomal recessive cutis laxa type IIA ISO RGD:1320849 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cutis laxa with osteodystrophy PMID:15657616|PMID:18157129|PMID:20301755|PMID:22773132|PMID:24815019|PMID:25741868|PMID:26467025|PMID:28492532 11799567 ATP6V0A2 ATPase H+ transporting V0 subunit a2 gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:1320849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:16199547|PMID:17576681|PMID:18157129|PMID:19321599|PMID:23806237|PMID:23963297|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 11799567 ATP6V0A2 ATPase H+ transporting V0 subunit a2 gene DOID:0110993 Joubert syndrome 24 ISO RGD:1320849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 24 PMID:25741868|PMID:28492532 11799567 ATP6V0A2 ATPase H+ transporting V0 subunit a2 gene DOID:0112171 wrinkly skin syndrome ISO RGD:1320849 D RGD:7240710 20180130 OMIM 11799567 ATP6V0A2 ATPase H+ transporting V0 subunit a2 gene DOID:0112171 wrinkly skin syndrome ISO RGD:1320849 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Wrinkly skin syndrome PMID:18157129|PMID:20301755|PMID:25741868|PMID:28492532 11799567 ATP6V0A2 ATPase H+ transporting V0 subunit a2 gene DOID:3144 cutis laxa ISO RGD:1320849 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Cutis laxa PMID:18157129|PMID:19321599|PMID:28492532 11799567 ATP6V0A2 ATPase H+ transporting V0 subunit a2 gene DOID:630 genetic disease ISO RGD:1320849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11799567 ATP6V0A2 ATPase H+ transporting V0 subunit a2 gene DOID:9002034 Autosomal Recessive Cutis Laxa ISO RGD:1320849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, recessive PMID:25741868|PMID:26467025|PMID:28492532 11799595 KDM7A lysine demethylase 7A gene DOID:0080690 RASopathy ISO RGD:1606499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 11799595 KDM7A lysine demethylase 7A gene DOID:1909 melanoma ISO RGD:1606499 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:22143793|REF_RGD_ID:9587848 11799595 KDM7A lysine demethylase 7A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11799595 KDM7A lysine demethylase 7A gene DOID:630 genetic disease ISO RGD:1606499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11799623 SNORC secondary ossification center associated regulator of chondrocyte maturation gene DOID:0060476 Perlman syndrome ISO RGD:1606085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11799623 SNORC secondary ossification center associated regulator of chondrocyte maturation gene DOID:0110991 Joubert syndrome 22 ISO RGD:1606085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11799628 USP46 ubiquitin specific peptidase 46 gene DOID:630 genetic disease ISO RGD:1344409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11799641 HS3ST5 heparan sulfate-glucosamine 3-sulfotransferase 5 gene DOID:0060163 body dysmorphic disorder ISO RGD:1314962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 11799641 HS3ST5 heparan sulfate-glucosamine 3-sulfotransferase 5 gene DOID:1909 melanoma ISO RGD:1314962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11799641 HS3ST5 heparan sulfate-glucosamine 3-sulfotransferase 5 gene DOID:630 genetic disease ISO RGD:1314962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11799667 BSDC1 BSD domain containing 1 gene DOID:630 genetic disease ISO RGD:1605672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11799688 UBE3C ubiquitin protein ligase E3C gene DOID:0110875 holoprosencephaly 3 ISO RGD:1348358 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:22354285|PMID:22683912|PMID:23370340|PMID:24095820|PMID:28284480|PMID:28492532|PMID:28588853|PMID:29983323|PMID:29992659|PMID:31334757|PMID:32677110 11799688 UBE3C ubiquitin protein ligase E3C gene DOID:12849 autistic disorder ISO RGD:1348358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11799688 UBE3C ubiquitin protein ligase E3C gene DOID:630 genetic disease ISO RGD:1348358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11799688 UBE3C ubiquitin protein ligase E3C gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1348358 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11799688 UBE3C ubiquitin protein ligase E3C gene DOID:9006574 NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES ISO RGD:1348358 D RGD:7240710 20230505 OMIM 11799688 UBE3C ubiquitin protein ligase E3C gene DOID:9006574 NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES ISO RGD:1348358 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities PMID:25741868|PMID:36401616 11799714 IL7R interleukin 7 receptor gene DOID:0080600 COVID-19 ISO RGD:1320295 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11799714 IL7R interleukin 7 receptor gene DOID:0080915 histiocytic sarcoma ISO RGD:1320295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Histiocytic medullary reticulosis PMID:21664875|PMID:25741868|PMID:26123418|PMID:28492532 11799714 IL7R interleukin 7 receptor gene DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive ISO RGD:1320295 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism 11799714 IL7R interleukin 7 receptor gene DOID:10534 stomach cancer susceptibility ISO RGD:1320295 D RGD:9068941 20220204 RGD DNA:SNPs,haplotype:IVS,exon:1560 G>A (rs1389832),33 A>G(rs1494555), 1472 A>C (rs1494556)(human) PMID:18687755|REF_RGD_ID:151347690 11799714 IL7R interleukin 7 receptor gene DOID:12236 primary biliary cholangitis ISO RGD:1320295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21399635 11799714 IL7R interleukin 7 receptor gene DOID:219 colon cancer disease_progression ISO RGD:1320295 D RGD:9068941 20220204 RGD DNA:deletion: : PMID:29755661|REF_RGD_ID:126779581 11799714 IL7R interleukin 7 receptor gene DOID:2377 multiple sclerosis ISO RGD:1320295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to, 3 PMID:21664875|PMID:24759676|PMID:25046553|PMID:25741868|PMID:26123418|PMID:27577878|PMID:28436970|PMID:28492532|PMID:32576985|PMID:32765500 11799714 IL7R interleukin 7 receptor gene DOID:289 endometriosis ISO RGD:1320295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11799714 IL7R interleukin 7 receptor gene DOID:3525 middle cerebral artery infarction ISO RGD:1309776 D RGD:9068941 20220204 RGD protein:increased expression:brain: PMID:30676545|REF_RGD_ID:151347693 11799714 IL7R interleukin 7 receptor gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1320295 D RGD:9068941 20220204 RGD PMID:21159243|REF_RGD_ID:151347686 11799714 IL7R interleukin 7 receptor gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1320295 D RGD:9068941 20220204 RGD DNA:SNPs:: rs1494555,rs7737000(human) PMID:19505916|REF_RGD_ID:4142793 11799714 IL7R interleukin 7 receptor gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1320295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21892159 11799714 IL7R interleukin 7 receptor gene DOID:627 severe combined immunodeficiency ISO RGD:1320295 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:15661025|PMID:16492442|PMID:17827065|PMID:18255337|PMID:18403192|PMID:18641513|PMID:21664875|PMID:23810098|PMID:24759676|PMID:25046553|PMID:25741868|PMID:26123418|PMID:27577878|PMID:27833609|PMID:28436970|PMID:28492532|PMID:30778343|PMID:32576985|PMID:32765500|PMID:33084842 11799714 IL7R interleukin 7 receptor gene DOID:630 genetic disease ISO RGD:1320295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11799714 IL7R interleukin 7 receptor gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:1320295 D RGD:9068941 20220204 RGD PMID:26155428|REF_RGD_ID:151347688 11799714 IL7R interleukin 7 receptor gene DOID:8577 ulcerative colitis ISO RGD:1320295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297633 11799714 IL7R interleukin 7 receptor gene DOID:9000795 Immunodeficiency 104 ISO RGD:1320295 D RGD:7240710 20220706 OMIM 11799714 IL7R interleukin 7 receptor gene DOID:9000795 Immunodeficiency 104 ISO RGD:1320295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 104 PMID:10899029|PMID:11023514|PMID:15615257|PMID:15661025|PMID:16199547|PMID:16492442|PMID:17201233|PMID:17576681|PMID:17827065|PMID:18255337|PMID:18403192|PMID:18641513|PMID:20021794|PMID:21664875|PMID:23810098|PMID:24033266|PMID:24578017|PMID:24728327|PMID:24759676|PMID:25046553|PMID:25741868|PMID:26123418|PMID:27577878|PMID:27807805|PMID:27833609|PMID:28436970|PMID:28492532|PMID:28747913|PMID:29551298|PMID:30290665|PMID:30778343|PMID:30858051|PMID:31031743|PMID:32576985|PMID:32765500|PMID:32888943|PMID:35418989|PMID:9536098|PMID:9843216 11799714 IL7R interleukin 7 receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11799714 IL7R interleukin 7 receptor gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features ISO RGD:1320295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features PMID:22897847|PMID:22955920 11799714 IL7R interleukin 7 receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11799714 IL7R interleukin 7 receptor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1320295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21892159 11799714 IL7R interleukin 7 receptor gene DOID:9008939 Breast Neoplasms ISO RGD:1320295 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast neoplasm 11799714 IL7R interleukin 7 receptor gene DOID:9538 multiple myeloma ISO RGD:1320295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11799726 MIXL1 Mix paired-like homeobox gene DOID:1540 parathyroid carcinoma ISO RGD:1320666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11799726 MIXL1 Mix paired-like homeobox gene DOID:630 genetic disease ISO RGD:1320666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11799726 MIXL1 Mix paired-like homeobox gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11799733 FBXO25 F-box protein 25 gene DOID:630 genetic disease ISO RGD:1603223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11799743 MRPL32 mitochondrial ribosomal protein L32 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11799743 MRPL32 mitochondrial ribosomal protein L32 gene DOID:630 genetic disease ISO RGD:1321503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short ribs PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:29620724|PMID:7695699|PMID:8218237|PMID:9016532 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:0050663 Bethlem myopathy ISO RGD:734037 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, benign congenital PMID:17078022|PMID:17347327|PMID:19344236|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:28492532|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:0050817 Stargardt disease ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:16752401|PMID:20513134|PMID:28492532 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:0060221 Maffucci syndrome ISO RGD:734037 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Maffucci syndrome PMID:25741868 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:0080006 bone development disease ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:0080011 bone resorption disease ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27028940 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:0080026 otospondylomegaepiphyseal dysplasia, autosomal recessive ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive PMID:25326635|PMID:25741868 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:0080027 spondyloepimetaphyseal dysplasia ISO RGD:10373 D RGD:9068941 20220825 MouseDO 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type ISO RGD:734037 D RGD:7240710 20180509 OMIM 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SMED Strudwick type | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Strudwick type | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia PMID:15895462|PMID:16088915|PMID:17078022|PMID:17347327|PMID:17509551|PMID:18272325|PMID:18276201|PMID:1905723|PMID:19344236|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26467025|PMID:26626311|PMID:28492532|PMID:30792901|PMID:34008892|PMID:7550321|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8423604|PMID:8486375|PMID:8702139|PMID:8723096|PMID:8893763|PMID:9016532 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:0080044 hypochondrogenesis ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypochondrogenesis PMID:1429602|PMID:2572591|PMID:3195588 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:0080045 Kniest dysplasia ISO RGD:734037 D RGD:7240710 20180509 OMIM 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:0080045 Kniest dysplasia ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kniest dysplasia PMID:10406661|PMID:12995812|PMID:17078022|PMID:17347327|PMID:17576681|PMID:18272325|PMID:18276201|PMID:19344236|PMID:22791362|PMID:23188137|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26467025|PMID:28492532|PMID:29620724|PMID:29758562|PMID:30408610|PMID:4014370|PMID:4214536|PMID:7695699|PMID:7700721|PMID:7849719|PMID:7874117|PMID:7977371|PMID:7981752|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532|PMID:9066888|PMID:9468540|PMID:9536098 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:0080046 Stickler syndrome ISO RGD:734037 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Stickler Syndrome, Dominant | ClinVar Annotator: match by term: Stickler syndrome PMID:24033266|PMID:25741868|PMID:26443184|PMID:28492532|PMID:30311386 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:0080056 achondrogenesis type II ISO RGD:734037 D RGD:7240710 20180509 OMIM 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:0080056 achondrogenesis type II ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Achondrogenesis type II | ClinVar Annotator: match by term: Chondrogenesis imperfecta PMID:10797431|PMID:10982970|PMID:11007540|PMID:12429249|PMID:12544472|PMID:12939326|PMID:15054848|PMID:15895462|PMID:16199547|PMID:16752401|PMID:17078022|PMID:17347327|PMID:17576681|PMID:17994563|PMID:18272325|PMID:18276201|PMID:19344236|PMID:20179744|PMID:20301479|PMID:21472893|PMID:21924244|PMID:22496037|PMID:22522174|PMID:23592912|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25735649|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26467025|PMID:26626311|PMID:26747767|PMID:27234559|PMID:27390512|PMID:28492532|PMID:28559085|PMID:29453956|PMID:29620724|PMID:30181686|PMID:31755234|PMID:32756486|PMID:34573377|PMID:7695699|PMID:7752132|PMID:7757081|PMID:7829510|PMID:7977371|PMID:8218237|PMID:8325895|PMID:8702139|PMID:8893763|PMID:9016532|PMID:9101290|PMID:9536098 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:0080676 Stickler syndrome 1 ISO RGD:734037 D RGD:7240710 20180509 OMIM 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:0080676 Stickler syndrome 1 ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthroophthalmopathy, hereditary progressive | ClinVar Annotator: match by term: Stickler syndrome type 1 PMID:10486316|PMID:10706362|PMID:10982970|PMID:11007540|PMID:12544472|PMID:12939326|PMID:14299791|PMID:1444917|PMID:15671297|PMID:15895462|PMID:16189708|PMID:16199547|PMID:16752401|PMID:1677770|PMID:17078022|PMID:17347327|PMID:17576681|PMID:17638425|PMID:17721977|PMID:17726487|PMID:18272325|PMID:18276201|PMID:1905723|PMID:19344236|PMID:19764028|PMID:20131279|PMID:20179744|PMID:20301479|PMID:20513134|PMID:22496037|PMID:22522174|PMID:22574936|PMID:22791362|PMID:24664531|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:25809783|PMID:26037341|PMID:26467025|PMID:26626311|PMID:26709265|PMID:26747767|PMID:27183340|PMID:27234559|PMID:27390512|PMID:27408751|PMID:2803268|PMID:28492532|PMID:29095814|PMID:29453956|PMID:30181686|PMID:30311386|PMID:31736238|PMID:31872526|PMID:32071555|PMID:32510848|PMID:32756486|PMID:34008892|PMID:35052477|PMID:7487609|PMID:7695699|PMID:7849719|PMID:7977371|PMID:8218237|PMID:8244341|PMID:8406454|PMID:8423604|PMID:8434604|PMID:8702139|PMID:8737653|PMID:8893763|PMID:9016532|PMID:9536098 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant PMID:25741868 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:0111348 multiple epiphyseal dysplasia with myopia and deafness ISO RGD:734037 D RGD:7240710 20180509 OMIM 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:0111348 multiple epiphyseal dysplasia with myopia and deafness ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, with myopia and conductive deafness | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia, Beighton type PMID:17078022|PMID:17347327|PMID:18272325|PMID:18276201|PMID:19344236|PMID:22496037|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26467025|PMID:27390512|PMID:28018693|PMID:28492532|PMID:28983407|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532|PMID:9800905 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:0111508 Torrance type platyspondylic dysplasia ISO RGD:734037 D RGD:7240710 20180509 OMIM 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:0111508 Torrance type platyspondylic dysplasia ISO RGD:734037 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Platyspondylic dysplasia, Torrance type | ClinVar Annotator: match by term: Thanatophoric dysplasia torrance variant PMID:14729840|PMID:15266623|PMID:17078022|PMID:17347327|PMID:17726487|PMID:18272325|PMID:18276201|PMID:19344236|PMID:21442341|PMID:22791362|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26443184|PMID:26467025|PMID:28492532|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:0112195 spondyloperipheral dysplasia ISO RGD:734037 D RGD:7240710 20180509 OMIM 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:0112195 spondyloperipheral dysplasia ISO RGD:734037 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spondyloperipheral dysplasia | ClinVar Annotator: match by term: Spondyloperipheral dysplasia with short ulna | ClinVar Annotator: match by term: Spondyloperipheral dysplasia-short ulna syndrome PMID:11746045|PMID:14729840|PMID:15266623|PMID:15316962|PMID:15895462|PMID:17078022|PMID:17347327|PMID:17509551|PMID:17726487|PMID:18272325|PMID:18276201|PMID:1905723|PMID:19344236|PMID:21472893|PMID:21924244|PMID:23079993|PMID:24033266|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25735649|PMID:25741868|PMID:25741869|PMID:25900302|PMID:26037341|PMID:26467025|PMID:26626311|PMID:28492532|PMID:34008892|PMID:7550321|PMID:7695699|PMID:7752132|PMID:7977371|PMID:8218237|PMID:8325895|PMID:8423604|PMID:8702139|PMID:8723097|PMID:8893763|PMID:9016532|PMID:9101290 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:0112281 spondyloepiphyseal dysplasia Stanescu type ISO RGD:734037 D RGD:7240710 20180509 OMIM 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:0112281 spondyloepiphyseal dysplasia Stanescu type ISO RGD:734037 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: SED, STANESCU TYPE | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, Stanescu type | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, stanescu type PMID:17078022|PMID:17347327|PMID:18272325|PMID:18276201|PMID:19344236|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26183434|PMID:26420734|PMID:26467025|PMID:28492532|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:0112295 spondylometaphyseal dysplasia ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia PMID:25741868|PMID:28492532 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:0112297 spondylometaphyseal dysplasia corner fracture type ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type PMID:17078022|PMID:17163530|PMID:17347327|PMID:18272325|PMID:18276201|PMID:19344236|PMID:22791362|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26402641|PMID:26443184|PMID:26467025|PMID:26626311|PMID:27888646|PMID:28492532|PMID:32200603|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:10003 sensorineural hearing loss ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16189708 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:1059 intellectual disability ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:1123 spondyloarthropathy ISO RGD:734037 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.G274S(human) PMID:7866404|REF_RGD_ID:12108857 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:11830 myopia ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopia PMID:22496037|PMID:25741868|PMID:27390512|PMID:28018693|PMID:28492532|PMID:28983407|PMID:9800905 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:11830 myopia susceptibility ISO RGD:734037 D RGD:9068941 20200609 RGD associated with Stickler Syndrome, Type 1; DNA:mutations: exons: PMID:18276201|REF_RGD_ID:12436723 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:1222 cartilage disease ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27028940 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:14323 Marfan syndrome ISO RGD:734037 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:14415 Legg-Calve-Perthes disease ISO RGD:734037 D RGD:7240710 20180509 OMIM 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:14415 Legg-Calve-Perthes disease ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Coxa plana | ClinVar Annotator: match by term: Legg-Calve-Perthes disease | ClinVar Annotator: match by term: Osteochondritis deformans PMID:15930420|PMID:17078022|PMID:17347327|PMID:17394019|PMID:18272325|PMID:18276201|PMID:19344236|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:25809783|PMID:26037341|PMID:26467025|PMID:28492532|PMID:29750297|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:1459 hypothyroidism treatment ISO RGD:2375 D RGD:9068941 20200609 RGD PMID:17310101|REF_RGD_ID:8661259 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:14789 spondyloepiphyseal dysplasia congenita ISO RGD:734037 D RGD:7240710 20180509 OMIM 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:14789 spondyloepiphyseal dysplasia congenita ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, congenital type PMID:10678662|PMID:11746045|PMID:15643621|PMID:15895462|PMID:17078022|PMID:17347327|PMID:18272325|PMID:18276201|PMID:1905723|PMID:19344236|PMID:20179744|PMID:20513134|PMID:21472893|PMID:21924244|PMID:2339128|PMID:24033266|PMID:2543071|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25735649|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26380986|PMID:26467025|PMID:26626311|PMID:26985960|PMID:27234559|PMID:28492532|PMID:31755234|PMID:32860008|PMID:34008892|PMID:35052477|PMID:7695699|PMID:7752132|PMID:7977371|PMID:8218237|PMID:8325895|PMID:8423604|PMID:8702139|PMID:8893763|PMID:9016532|PMID:9101290 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:1682 congenital heart disease ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:12544472|PMID:20179744|PMID:22496037|PMID:25741868|PMID:26747767|PMID:28492532 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:1909 melanoma ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:2256 osteochondrodysplasia ISO RGD:10373 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.G1170S(mouse) PMID:24475193|REF_RGD_ID:11667103 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:2256 osteochondrodysplasia ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8486375 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:2256 osteochondrodysplasia ISO RGD:734037 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R519C(human) PMID:15476249|REF_RGD_ID:11667106 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:2703 synovitis ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25194622 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:3371 chondrosarcoma ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770606 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:3371 chondrosarcoma ISO RGD:734037 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:23770606|REF_RGD_ID:8657387 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:5327 retinal detachment ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal detachment 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:5614 eye disease ISO RGD:734037 D RGD:9068941 20200609 RGD associated with Toxoplasmosis, Congenital;DNA:snps:multiple (human) PMID:19430638|REF_RGD_ID:8657386 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:630 genetic disease ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10353778|PMID:10745044|PMID:12848929|PMID:12925722|PMID:15895462|PMID:17078022|PMID:17509551|PMID:19344236|PMID:1971141|PMID:20179744|PMID:20513134|PMID:22791362|PMID:23079993|PMID:24736929|PMID:25604898|PMID:25741868|PMID:25823796|PMID:25900302|PMID:26250472|PMID:26345137|PMID:26358419|PMID:26626311|PMID:28095098|PMID:28492532|PMID:28738883|PMID:30170566|PMID:31758797|PMID:7550321|PMID:7695699|PMID:7741714|PMID:8218237|PMID:8486375|PMID:9016532|PMID:9724608 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:65 connective tissue disease ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:12205109|PMID:12544472|PMID:15895462|PMID:17078022|PMID:18272325|PMID:18276201|PMID:1905723|PMID:19344236|PMID:20179744|PMID:22496037|PMID:25504618|PMID:25604898|PMID:25741868|PMID:26467025|PMID:26626311|PMID:26747767|PMID:27183340|PMID:27234559|PMID:28492532|PMID:34008892|PMID:7695699|PMID:8218237|PMID:8423604|PMID:9016532 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:674 cleft palate ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15562585 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:674 cleft palate susceptibility ISO RGD:734037 D RGD:9068941 20200609 RGD DNA:SNP,haplotype:intron:rs1793949(human) PMID:20672350|REF_RGD_ID:12436724 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:7148 rheumatoid arthritis ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27028940|PMID:29935983 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:83 cataract ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8317498 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:8398 osteoarthritis ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16189708|PMID:9061443 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:8398 osteoarthritis onset ISO RGD:734037 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.R75C (human) PMID:16755660|REF_RGD_ID:8657384 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:8398 osteoarthritis treatment ISO RGD:2375 D RGD:9068941 20200609 RGD PMID:19216861|REF_RGD_ID:8661226 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:848 arthritis ISO RGD:734037 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:17299831|PMID:24144632|PMID:26640276|PMID:36121554 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:8501 fundus dystrophy ISO RGD:734037 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10706362|PMID:11007540|PMID:15895462|PMID:16199547|PMID:16752401|PMID:20179744|PMID:20513134|PMID:22496037|PMID:22522174|PMID:25741868|PMID:26747767|PMID:27234559|PMID:27390512|PMID:27408751|PMID:28492532|PMID:29453956|PMID:30181686|PMID:31736238 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:8886 chorioretinitis ISO RGD:734037 D RGD:9068941 20200609 RGD associated with Toxoplasmosis, Congenital;DNA:snp:intron:IVS2-218 (rs1793958) (human) PMID:18523590|REF_RGD_ID:8657355 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:90 degenerative disc disease ISO RGD:2375 D RGD:9068941 20200609 RGD PMID:24285589|REF_RGD_ID:11570539 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:90 degenerative disc disease ISO RGD:2375 D RGD:9068941 20200609 RGD mRNA:decreased expression:intervertebral disc (rat) PMID:20948465|REF_RGD_ID:8661231 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:90 degenerative disc disease treatment ISO RGD:2375 D RGD:9068941 20200609 RGD associated with Renal Insufficiency PMID:19063844|REF_RGD_ID:10043178 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:9000197 Edema ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25194622|PMID:27028940|PMID:29908986|PMID:29935983 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:9001210 Osteoarthritis with Mild Chondrodysplasia ISO RGD:734037 D RGD:7240710 20180509 OMIM 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:9001210 Osteoarthritis with Mild Chondrodysplasia ISO RGD:734037 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Namaqualand hip dysplasia | ClinVar Annotator: match by term: Osteoarthritis with mild chondrodysplasia PMID:10372559|PMID:15895462|PMID:16155195|PMID:17078022|PMID:17347327|PMID:18272325|PMID:18276201|PMID:1905723|PMID:19344236|PMID:1975693|PMID:1985108|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26443184|PMID:26467025|PMID:26626311|PMID:28492532|PMID:34008892|PMID:7695699|PMID:7757086|PMID:7977371|PMID:8218237|PMID:8423604|PMID:8507190|PMID:8702139|PMID:8893763|PMID:9016532|PMID:9711874 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:734037 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:17078022|PMID:17347327|PMID:19344236|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:28492532|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:9001679 Collagenopathy, Type 2 Alpha 1 ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cartilage collagen PMID:15895462|PMID:17078022|PMID:17163530|PMID:17347327|PMID:19344236|PMID:20179744|PMID:20301479|PMID:22791362|PMID:25741868|PMID:26402641|PMID:26443184|PMID:27234559|PMID:27888646|PMID:28492532|PMID:32200603|PMID:7695699|PMID:8218237|PMID:9016532 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:9001680 SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS ISO RGD:734037 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans PMID:25741868|PMID:28492532 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:9001981 Weight Loss ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26070417|PMID:29908986 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:9002189 High Myopia severity ISO RGD:734037 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:19387081|REF_RGD_ID:8657342 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:9002221 Hyperplasia ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25481498 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:9002231 Fetal Growth Retardation ISO RGD:2375 D RGD:9068941 20200609 RGD mRNA:decreased expression:distal epiphyseal plate of femur (rat) PMID:22995397|REF_RGD_ID:8661261 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:9002457 Experimental Arthritis ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16200597|PMID:21188452|PMID:23326410|PMID:24709313|PMID:25194622|PMID:25481498|PMID:26070417|PMID:29908986|PMID:29935983 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:9003049 Femur Head Necrosis ISO RGD:734037 D RGD:7240710 20180509 OMIM 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:9003049 Femur Head Necrosis ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Avascular necrosis of femoral head, primary | ClinVar Annotator: match by term: Avascular necrosis of femoral head, primary, 1 PMID:15930420|PMID:17078022|PMID:17347327|PMID:17394019|PMID:18272325|PMID:18276201|PMID:19344236|PMID:21671384|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:25809783|PMID:26037341|PMID:26467025|PMID:28492532|PMID:29750297|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:9003576 Prognathism susceptibility ISO RGD:734037 D RGD:9068941 20200609 RGD DNA:SNP: : rs1793953(human) PMID:24386886|REF_RGD_ID:11667107 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:9003716 Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia ISO RGD:734037 D RGD:7240710 20210414 OMIM 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:9003716 Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia ISO RGD:734037 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Vitreoretinopathy with phalangeal epiphyseal dysplasia PMID:12205109|PMID:17078022|PMID:17347327|PMID:18272325|PMID:18276201|PMID:19344236|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26467025|PMID:28492532|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:9003722 Bronchial Fistula treatment ISO RGD:2375 D RGD:9068941 20200609 RGD PMID:24647564|REF_RGD_ID:8661658 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:9004538 Hearing Loss ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:26626311|PMID:28492532|PMID:30311386 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:9005372 Inflammation ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24144632|PMID:27028940 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:9005817 Czech Dysplasia, Metatarsal Type ISO RGD:734037 D RGD:7240710 20180509 OMIM 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:9005817 Czech Dysplasia, Metatarsal Type ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Czech dysplasia, metatarsal type | ClinVar Annotator: match by term: Pseudorheumatoid dysplasia progressive, with hypoplastic toes | ClinVar Annotator: match by term: SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITIS PMID:17078022|PMID:17347327|PMID:17726487|PMID:18272325|PMID:18276201|PMID:19344236|PMID:19764028|PMID:22791362|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:25967556|PMID:26037341|PMID:26467025|PMID:26626311|PMID:28492532|PMID:32071555|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8244341|PMID:8702139|PMID:8893763|PMID:9016532 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:9005830 Hyaloideoretinal Degeneration of Wagner ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11812423 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:9005830 Hyaloideoretinal Degeneration of Wagner ISO RGD:734037 D RGD:9068941 20200609 RGD DNA:frameshift mutation:exon:p.C57X (human) PMID:11812423|REF_RGD_ID:8657385 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:9005830 Hyaloideoretinal Degeneration of Wagner ISO RGD:734037 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.G67D (human) PMID:8317498|REF_RGD_ID:8657389 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:9006205 Animal Disease Models ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17299831 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:9006763 Stickler Syndrome, Type I, Nonsyndromic Ocular ISO RGD:734037 D RGD:7240710 20180509 OMIM 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:9006763 Stickler Syndrome, Type I, Nonsyndromic Ocular ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: STICKLER SYNDROME, ATYPICAL | ClinVar Annotator: match by term: Stickler syndrome, type I, nonsyndromic ocular PMID:11007540|PMID:11410667|PMID:15671297|PMID:15895462|PMID:16752401|PMID:17078022|PMID:17347327|PMID:17721977|PMID:18272325|PMID:18276201|PMID:19344236|PMID:20179744|PMID:20301479|PMID:20513134|PMID:22496037|PMID:22522174|PMID:22574936|PMID:22791362|PMID:25060605|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26358419|PMID:26443184|PMID:26467025|PMID:26747767|PMID:27234559|PMID:27390512|PMID:27408751|PMID:28492532|PMID:29453956|PMID:30181686|PMID:7695699|PMID:7849719|PMID:7977371|PMID:8218237|PMID:8317498|PMID:8702139|PMID:8893763|PMID:9016532 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:9006976 Erythema ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25194622|PMID:27028940 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:9007109 Rhegmatogenous Retinal Detachment, Autosomal Dominant ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant rhegmatogenous retinal detachment PMID:10982970|PMID:12544472|PMID:12939326|PMID:15671297|PMID:17078022|PMID:19344236|PMID:20179744|PMID:20301479|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:9007661 Dwarfism ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:9007706 MASS Syndrome ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MASS syndrome PMID:25741868|PMID:28492532 11799750 COL2A1 collagen type II alpha 1 chain gene DOID:9008731 Craniofacial Abnormalities ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15562585|PMID:9061443 11799813 XPO7 exportin 7 gene DOID:0060224 atrial fibrillation ISO RGD:1322111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11799813 XPO7 exportin 7 gene DOID:630 genetic disease ISO RGD:1322111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11799844 CAMKV CaM kinase like vesicle associated gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 11799844 CAMKV CaM kinase like vesicle associated gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 11799844 CAMKV CaM kinase like vesicle associated gene DOID:630 genetic disease ISO RGD:1604302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11799844 CAMKV CaM kinase like vesicle associated gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1604302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11799844 CAMKV CaM kinase like vesicle associated gene DOID:9562 primary ciliary dyskinesia ISO RGD:1604302 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11799864 PHLDB3 pleckstrin homology like domain family B member 3 gene DOID:5419 schizophrenia ISO RGD:1345533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11799864 PHLDB3 pleckstrin homology like domain family B member 3 gene DOID:630 genetic disease ISO RGD:1345533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11799886 INCENP inner centromere protein gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1313235 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11799886 INCENP inner centromere protein gene DOID:1059 intellectual disability ISO RGD:1313235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11799886 INCENP inner centromere protein gene DOID:12712 nephronophthisis ISO RGD:1313235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:26489029 11799886 INCENP inner centromere protein gene DOID:1909 melanoma ISO RGD:1313235 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11799886 INCENP inner centromere protein gene DOID:630 genetic disease ISO RGD:1313235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11799886 INCENP inner centromere protein gene DOID:9005539 Familial Prostate Cancer ISO RGD:1313235 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11799915 C4BPB complement component 4 binding protein beta gene DOID:0050589 inflammatory bowel disease ISO RGD:736875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 11799915 C4BPB complement component 4 binding protein beta gene DOID:0080600 COVID-19 severity ISO RGD:736875 D RGD:9068941 20200813 RGD DNA:SNP: :rs45574833(human) PMID:32747830|REF_RGD_ID:38500238 11799915 C4BPB complement component 4 binding protein beta gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:736875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 11799915 C4BPB complement component 4 binding protein beta gene DOID:12849 autistic disorder ISO RGD:736875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11799915 C4BPB complement component 4 binding protein beta gene DOID:1540 parathyroid carcinoma ISO RGD:736875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11799915 C4BPB complement component 4 binding protein beta gene DOID:630 genetic disease ISO RGD:736875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11799915 C4BPB complement component 4 binding protein beta gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736875 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11799915 C4BPB complement component 4 binding protein beta gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11799940 SETD1B SET domain containing 1B, histone lysine methyltransferase gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1602124 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31 PMID:25741868 11799940 SETD1B SET domain containing 1B, histone lysine methyltransferase gene DOID:0080448 developmental and epileptic encephalopathy 48 ISO RGD:1602124 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 48 PMID:25741868 11799940 SETD1B SET domain containing 1B, histone lysine methyltransferase gene DOID:1826 epilepsy ISO RGD:1602124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 11799940 SETD1B SET domain containing 1B, histone lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1602124 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532|PMID:29322246|PMID:31440728|PMID:31685013 11799940 SETD1B SET domain containing 1B, histone lysine methyltransferase gene DOID:9000804 Intellectual Developmental Disorder with Seizures and Language Delay ISO RGD:1602124 D RGD:7240710 20200930 OMIM 11799940 SETD1B SET domain containing 1B, histone lysine methyltransferase gene DOID:9000804 Intellectual Developmental Disorder with Seizures and Language Delay ISO RGD:1602124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with seizures and language delay | ClinVar Annotator: match by term: SETD1B-associated disorder PMID:25741868|PMID:28492532|PMID:29322246|PMID:31110234|PMID:31440728|PMID:31685013|PMID:32546566|PMID:34345025 11799940 SETD1B SET domain containing 1B, histone lysine methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11799940 SETD1B SET domain containing 1B, histone lysine methyltransferase gene DOID:9008086 Developmental Disabilities ISO RGD:1602124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11799962 ZNF101 zinc finger protein 101 gene DOID:630 genetic disease ISO RGD:1350989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11799970 HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:734010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11799970 HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 gene DOID:0111071 congenital bile acid synthesis defect 1 ISO RGD:734010 D RGD:7240710 20180130 OMIM 11799970 HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 gene DOID:0111071 congenital bile acid synthesis defect 1 ISO RGD:734010 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect 1 PMID:11067870|PMID:12679481|PMID:25741868|PMID:26712441|PMID:28492532|PMID:3470305 11799970 HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:734010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:25362483|PMID:26818399|PMID:28492532|PMID:31273778 11799970 HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 gene DOID:13580 cholestasis ISO RGD:734010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25526675 11799970 HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 gene DOID:1852 intrahepatic cholestasis ISO RGD:734010 D RGD:9068941 20200609 RGD CBAS1, OMIM:607765 PMID:12679481|REF_RGD_ID:1599971 11799970 HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 gene DOID:630 genetic disease ISO RGD:734010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11799997 OPCML opioid binding protein/cell adhesion molecule like gene DOID:0111723 Jacobsen Syndrome ISO RGD:731778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11799997 OPCML opioid binding protein/cell adhesion molecule like gene DOID:2394 ovarian cancer ISO RGD:731778 D RGD:7240710 20190213 OMIM 11799997 OPCML opioid binding protein/cell adhesion molecule like gene DOID:5419 schizophrenia ISO RGD:731778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11799997 OPCML opioid binding protein/cell adhesion molecule like gene DOID:630 genetic disease ISO RGD:731778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11799997 OPCML opioid binding protein/cell adhesion molecule like gene DOID:9002762 Ovarian Neoplasms ISO RGD:731778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:12819783 11799997 OPCML opioid binding protein/cell adhesion molecule like gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:731778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11800017 TRIM46 tripartite motif containing 46 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1314352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11800017 TRIM46 tripartite motif containing 46 gene DOID:0111940 immunodeficiency 42 ISO RGD:1314352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11800017 TRIM46 tripartite motif containing 46 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11800017 TRIM46 tripartite motif containing 46 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314352 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11800017 TRIM46 tripartite motif containing 46 gene DOID:1540 parathyroid carcinoma ISO RGD:1314352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11800017 TRIM46 tripartite motif containing 46 gene DOID:5812 MHC class II deficiency ISO RGD:1314352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11800017 TRIM46 tripartite motif containing 46 gene DOID:630 genetic disease ISO RGD:1314352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800017 TRIM46 tripartite motif containing 46 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11800048 HLX H2.0 like homeobox gene DOID:0050439 Usher syndrome ISO RGD:1323685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 11800048 HLX H2.0 like homeobox gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1323685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 11800048 HLX H2.0 like homeobox gene DOID:1540 parathyroid carcinoma ISO RGD:1323685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11800048 HLX H2.0 like homeobox gene DOID:630 genetic disease ISO RGD:1323685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800048 HLX H2.0 like homeobox gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11800057 KCNN2 potassium calcium-activated channel subfamily N member 2 gene DOID:0050753 cerebellar ataxia ISO RGD:734125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:33242881 11800057 KCNN2 potassium calcium-activated channel subfamily N member 2 gene DOID:0060224 atrial fibrillation ISO RGD:734125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11800057 KCNN2 potassium calcium-activated channel subfamily N member 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:734125 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11800057 KCNN2 potassium calcium-activated channel subfamily N member 2 gene DOID:12849 autistic disorder ISO RGD:734125 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11800057 KCNN2 potassium calcium-activated channel subfamily N member 2 gene DOID:14330 Parkinson's disease ISO RGD:734126 D RGD:9068941 20220825 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 11800057 KCNN2 potassium calcium-activated channel subfamily N member 2 gene DOID:4990 essential tremor ISO RGD:2963 D RGD:9068941 20210806 RGD DNA:missense mutation:cds:c. 866T>A (p. I289N)(rat) PMID:28917524|REF_RGD_ID:38508907 11800057 KCNN2 potassium calcium-activated channel subfamily N member 2 gene DOID:630 genetic disease ISO RGD:734125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16002581|PMID:25741868|PMID:28917524|PMID:33242881 11800057 KCNN2 potassium calcium-activated channel subfamily N member 2 gene DOID:684 hepatocellular carcinoma ISO RGD:734125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11800057 KCNN2 potassium calcium-activated channel subfamily N member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734125 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33242881 11800057 KCNN2 potassium calcium-activated channel subfamily N member 2 gene DOID:9004834 Myoclonic Dystonia 34 ISO RGD:734125 D RGD:7240710 20220202 OMIM 11800057 KCNN2 potassium calcium-activated channel subfamily N member 2 gene DOID:9004834 Myoclonic Dystonia 34 ISO RGD:734125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia 34, myoclonic PMID:32212350 11800057 KCNN2 potassium calcium-activated channel subfamily N member 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734125 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11800057 KCNN2 potassium calcium-activated channel subfamily N member 2 gene DOID:9007317 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES ISO RGD:734125 D RGD:7240710 20220810 OMIM 11800057 KCNN2 potassium calcium-activated channel subfamily N member 2 gene DOID:9007317 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES ISO RGD:734125 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without variable movement or behavioral abnormalities PMID:25741868|PMID:33242881 11800057 KCNN2 potassium calcium-activated channel subfamily N member 2 gene DOID:9008086 Developmental Disabilities ISO RGD:734125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16002581|PMID:25741868|PMID:28492532|PMID:33242881 11800069 ENTPD7 ectonucleoside triphosphate diphosphohydrolase 7 gene DOID:3652 Leigh disease ISO RGD:1321659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome 11800069 ENTPD7 ectonucleoside triphosphate diphosphohydrolase 7 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1321659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease 11800069 ENTPD7 ectonucleoside triphosphate diphosphohydrolase 7 gene DOID:630 genetic disease ISO RGD:1321659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800089 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11800089 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1605724 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 11800089 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1605724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 11800089 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:12849 autistic disorder ISO RGD:1605724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11800089 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1605724 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive PMID:20308327|PMID:24033266|PMID:25741868|PMID:27545675|PMID:29938792|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778|PMID:33504798|PMID:34008892 11800089 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:14499 Fabry disease ISO RGD:1605724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:11889412|PMID:15776423|PMID:17532296|PMID:17555407|PMID:18205205|PMID:20022777|PMID:21598360|PMID:21683120|PMID:23691425|PMID:23913314|PMID:23935525|PMID:24033266|PMID:24386359|PMID:25026990|PMID:25040344|PMID:25382311|PMID:25596309|PMID:25741868|PMID:26563328|PMID:27831900|PMID:27979989|PMID:28492532|PMID:30386727|PMID:30594474|PMID:33204599|PMID:34803097|PMID:7531540 11800089 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:2303 stereotypic movement disorder ISO RGD:1605724 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Stereotypic movement disorder PMID:20308327|PMID:24033266|PMID:25741868|PMID:27545675|PMID:29938792|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778|PMID:33504798|PMID:33728377|PMID:34008892|PMID:34907471 11800089 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:630 genetic disease ISO RGD:1605724 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20308327|PMID:24033266|PMID:25741868|PMID:27545675|PMID:28492532|PMID:29938792|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778|PMID:33504798|PMID:33728377|PMID:34008892|PMID:34907471 11800089 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605724 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:20308327|PMID:24033266|PMID:25741868|PMID:27545675|PMID:29938792|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778|PMID:33504798|PMID:33728377|PMID:34008892|PMID:34907471 11800089 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:9008950 Syndromic X-Linked Mental Retardation, Bain Type ISO RGD:1605724 D RGD:7240710 20190315 OMIM 11800089 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:9008950 Syndromic X-Linked Mental Retardation, Bain Type ISO RGD:1605724 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE PMID:20308327|PMID:24033266|PMID:25741868|PMID:27545675|PMID:28492532|PMID:29938792|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778|PMID:33504798|PMID:33728377|PMID:34008892|PMID:34907471 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:0050589 inflammatory bowel disease ISO RGD:734144 D RGD:9068941 20220825 MouseDO 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:0060250 idiopathic scoliosis ISO RGD:734144 D RGD:9068941 20220825 MouseDO 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:0080600 COVID-19 ISO RGD:1351530 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:10534 stomach cancer disease_progression ISO RGD:1351530 D RGD:9068941 20210409 RGD mRNA:decreased expression:stomach PMID:15386419|REF_RGD_ID:126775146 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:10608 celiac disease ISO RGD:1351530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:11054 urinary bladder cancer ISO RGD:1351530 D RGD:9068941 20200609 RGD DNA:promoter:aberrant methylation PMID:16230397|REF_RGD_ID:2302553 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1351530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:1612 breast cancer ISO RGD:1351530 D RGD:9068941 20200609 RGD DNA:promoter:hypermethylation protein:mislocalization PMID:16818622|REF_RGD_ID:2302554 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1351530 D RGD:9068941 20200609 RGD DNA:hypermethylation, loss of heterozygosity (human) PMID:18475302|REF_RGD_ID:2324956 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:2152 ovary epithelial cancer ISO RGD:1351530 D RGD:9068941 20200609 RGD mRNA:expression:increased PMID:18937968|REF_RGD_ID:2302556 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1351530 D RGD:9068941 20200609 RGD PMID:26175272|REF_RGD_ID:18337279 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:2841 asthma ISO RGD:734144 D RGD:9068941 20220825 MouseDO OMIM:600807 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:2871 endometrial carcinoma ISO RGD:1351530 D RGD:9068941 20200609 RGD DNA:promoter:hypermethylated PMID:18572225|REF_RGD_ID:2302555 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:299 adenocarcinoma ISO RGD:1351530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1351530 D RGD:9068941 20200609 RGD DNA:promoter:hypermethylation protein:mislocalization PMID:18256927|REF_RGD_ID:2302557 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:3068 glioblastoma ISO RGD:1351530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16909125 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1351530 D RGD:9068941 20210409 RGD mRNA:decreased expression:esophagus mucosa PMID:18500170|REF_RGD_ID:126779568 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1351530 D RGD:9068941 20210409 RGD DNA:hypermethylation:promoter PMID:18349282|REF_RGD_ID:13503324 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1351530 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:25520863|REF_RGD_ID:13792554 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:4947 cholangiocarcinoma ISO RGD:1351530 D RGD:9068941 20200609 RGD protein:decreased expression:bile duct PMID:19827872|REF_RGD_ID:2324955 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:630 genetic disease ISO RGD:1351530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1351530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28458013 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1351530 D RGD:9068941 20210409 RGD mRNA:decreased expression:liver PMID:17094378|REF_RGD_ID:126775147 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:7147 ankylosing spondylitis ISO RGD:1351530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743469 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:8719 in situ carcinoma ISO RGD:1351530 D RGD:9068941 20200609 RGD associated with Biliary Tract Neoplasms; DNA:hypermethylation:promoter PMID:19763613|REF_RGD_ID:2324958 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:8893 psoriasis ISO RGD:1351530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143594 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:1351530 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:15471559|REF_RGD_ID:2324957 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1351530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18058463 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1351530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:9002928 Colonic Neoplasms ISO RGD:1351530 D RGD:9068941 20200609 RGD DNA:promoter:hypermethylation PMID:15386381|REF_RGD_ID:2302551 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:9002936 Bile Duct Neoplasms ISO RGD:1351530 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:15471559|REF_RGD_ID:2324957 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:9004351 Digestive System Neoplasms ISO RGD:1351530 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:15471559|REF_RGD_ID:2324957 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:9005172 Lung Neoplasms ISO RGD:1351530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1351530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351530 D RGD:9068941 20200609 RGD DNA:promoter:aberrant methylation PMID:16080503|REF_RGD_ID:2302552 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1351530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 11800101 RUNX3 RUNX family transcription factor 3 gene DOID:9256 colorectal cancer ISO RGD:1351530 D RGD:9068941 20210409 RGD PMID:25925209|REF_RGD_ID:126779569 11800113 B4GALT4 beta-1,4-galactosyltransferase 4 gene DOID:630 genetic disease ISO RGD:1317330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800113 B4GALT4 beta-1,4-galactosyltransferase 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1317330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11800135 PRSS51 serine protease 51 gene DOID:630 genetic disease ISO RGD:6895556 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800135 PRSS51 serine protease 51 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:6895556 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11800177 DSTN destrin, actin depolymerizing factor gene DOID:6000 congestive heart failure ISO RGD:1312065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11800177 DSTN destrin, actin depolymerizing factor gene DOID:630 genetic disease ISO RGD:1312065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800177 DSTN destrin, actin depolymerizing factor gene DOID:9000955 Acute Otitis Media ISO RGD:8979178 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:mucosa of middle ear PMID:26711468|REF_RGD_ID:11553828 11800177 DSTN destrin, actin depolymerizing factor gene DOID:9006205 Animal Disease Models ISO RGD:1312065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11800177 DSTN destrin, actin depolymerizing factor gene DOID:9007174 Ventricular Remodeling ISO RGD:1312065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11800185 STIM2 stromal interaction molecule 2 gene DOID:630 genetic disease ISO RGD:1312198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800185 STIM2 stromal interaction molecule 2 gene DOID:9004657 Weight Gain ISO RGD:1312198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11800203 MYOZ1 myozenin 1 gene DOID:0060224 atrial fibrillation ISO RGD:1351397 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 11800203 MYOZ1 myozenin 1 gene DOID:630 genetic disease ISO RGD:1351397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800220 ATP5MG ATP synthase membrane subunit g gene DOID:0060017 CD3epsilon deficiency ISO RGD:1352647 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11800220 ATP5MG ATP synthase membrane subunit g gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1352647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11800220 ATP5MG ATP synthase membrane subunit g gene DOID:0080690 RASopathy ISO RGD:1352647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11800220 ATP5MG ATP synthase membrane subunit g gene DOID:0081330 glycogen storage disease Ib ISO RGD:1352647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 11800220 ATP5MG ATP synthase membrane subunit g gene DOID:0110651 long QT syndrome 10 ISO RGD:1352647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11800220 ATP5MG ATP synthase membrane subunit g gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1352647 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11800220 ATP5MG ATP synthase membrane subunit g gene DOID:0111971 immunodeficiency 18 ISO RGD:1352647 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11800220 ATP5MG ATP synthase membrane subunit g gene DOID:0111972 immunodeficiency 19 ISO RGD:1352647 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11800220 ATP5MG ATP synthase membrane subunit g gene DOID:0111973 immunodeficiency 17 ISO RGD:1352647 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11800220 ATP5MG ATP synthase membrane subunit g gene DOID:1059 intellectual disability ISO RGD:1352647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11800220 ATP5MG ATP synthase membrane subunit g gene DOID:10652 Alzheimer's disease ISO RGD:1352647 D RGD:9068941 20200609 RGD PMID:28474567|REF_RGD_ID:13792588 11800220 ATP5MG ATP synthase membrane subunit g gene DOID:630 genetic disease ISO RGD:1352647 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800220 ATP5MG ATP synthase membrane subunit g gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1352647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11800220 ATP5MG ATP synthase membrane subunit g gene DOID:9007661 Dwarfism ISO RGD:1352647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11800227 NFATC2 nuclear factor of activated T cells 2 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1317023 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A 11800227 NFATC2 nuclear factor of activated T cells 2 gene DOID:630 genetic disease ISO RGD:1317023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800227 NFATC2 nuclear factor of activated T cells 2 gene DOID:6432 pulmonary hypertension ISO RGD:1307690 D RGD:9068941 20200609 RGD PMID:17596340|REF_RGD_ID:1627651 11800227 NFATC2 nuclear factor of activated T cells 2 gene DOID:6432 pulmonary hypertension ISO RGD:1317023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27522126 11800227 NFATC2 nuclear factor of activated T cells 2 gene DOID:863 nervous system disease ISO RGD:1317023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 11800227 NFATC2 nuclear factor of activated T cells 2 gene DOID:9008054 JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA ISO RGD:1317023 D RGD:7240710 20230505 OMIM 11800227 NFATC2 nuclear factor of activated T cells 2 gene DOID:9008054 JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA ISO RGD:1317023 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Joint contractures, osteochondromas, and B-cell lymphoma PMID:35789258 11800227 NFATC2 nuclear factor of activated T cells 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 11800244 LAD1 ladinin 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1321680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11800244 LAD1 ladinin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1321680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11800244 LAD1 ladinin 1 gene DOID:630 genetic disease ISO RGD:1321680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800244 LAD1 ladinin 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1321680 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11800244 LAD1 ladinin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11800259 ETNK1 ethanolamine kinase 1 gene DOID:3307 teratoma ISO RGD:1317846 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 11800259 ETNK1 ethanolamine kinase 1 gene DOID:630 genetic disease ISO RGD:1317846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800259 ETNK1 ethanolamine kinase 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1317846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11800297 TMEM250 transmembrane protein 250 gene DOID:0050777 Joubert syndrome ISO RGD:1349018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11800297 TMEM250 transmembrane protein 250 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1349018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:27891178|PMID:28492532|PMID:31209758 11800297 TMEM250 transmembrane protein 250 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1349018 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11800297 TMEM250 transmembrane protein 250 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1349018 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11800297 TMEM250 transmembrane protein 250 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1349018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11800297 TMEM250 transmembrane protein 250 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1349018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11800297 TMEM250 transmembrane protein 250 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1349018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11800297 TMEM250 transmembrane protein 250 gene DOID:0081097 Rafiq syndrome ISO RGD:1349018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11800297 TMEM250 transmembrane protein 250 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1349018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 11800297 TMEM250 transmembrane protein 250 gene DOID:3652 Leigh disease ISO RGD:1349018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11800297 TMEM250 transmembrane protein 250 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1349018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 11800301 BCAS2 BCAS2 pre-mRNA processing factor gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1315129 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27356265 11800301 BCAS2 BCAS2 pre-mRNA processing factor gene DOID:0080690 RASopathy ISO RGD:1315129 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11800301 BCAS2 BCAS2 pre-mRNA processing factor gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1315129 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 11800301 BCAS2 BCAS2 pre-mRNA processing factor gene DOID:1612 breast cancer ISO RGD:1315129 D RGD:9068941 20200609 RGD DNA:amplification:cds (human) PMID:12169396|REF_RGD_ID:9850147 11800301 BCAS2 BCAS2 pre-mRNA processing factor gene DOID:630 genetic disease ISO RGD:1315129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800312 TYSND1 trypsin like peroxisomal matrix peptidase 1 gene DOID:630 genetic disease ISO RGD:1316504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800321 CELF2 CUGBP Elav-like family member 2 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:68488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 11800321 CELF2 CUGBP Elav-like family member 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:68488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11800321 CELF2 CUGBP Elav-like family member 2 gene DOID:5419 schizophrenia ISO RGD:68488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 11800321 CELF2 CUGBP Elav-like family member 2 gene DOID:630 genetic disease ISO RGD:68488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800321 CELF2 CUGBP Elav-like family member 2 gene DOID:9000553 Developmental and Epileptic Encephalopathy 97 ISO RGD:68488 D RGD:7240710 20211020 OMIM 11800321 CELF2 CUGBP Elav-like family member 2 gene DOID:9000553 Developmental and Epileptic Encephalopathy 97 ISO RGD:68488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 97 PMID:25741868|PMID:33131106 11800321 CELF2 CUGBP Elav-like family member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:68488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11800321 CELF2 CUGBP Elav-like family member 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28319090 11800368 DCAF11 DDB1 and CUL4 associated factor 11 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1322665 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11800368 DCAF11 DDB1 and CUL4 associated factor 11 gene DOID:630 genetic disease ISO RGD:1322665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800368 DCAF11 DDB1 and CUL4 associated factor 11 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1322665 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11800368 DCAF11 DDB1 and CUL4 associated factor 11 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1322665 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11800414 RAB36 RAB36, member RAS oncogene family gene DOID:11198 DiGeorge syndrome ISO RGD:1347973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 11800414 RAB36 RAB36, member RAS oncogene family gene DOID:5419 schizophrenia ISO RGD:1347973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11800414 RAB36 RAB36, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1347973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800429 BCL2L11 BCL2 like 11 gene DOID:14268 sclerosing cholangitis ISO RGD:734299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21151127 11800429 BCL2L11 BCL2 like 11 gene DOID:2921 glomerulonephritis ISO RGD:734300 D RGD:9068941 20200609 RGD PMID:10576740|REF_RGD_ID:734641 11800429 BCL2L11 BCL2 like 11 gene DOID:630 genetic disease ISO RGD:734299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800429 BCL2L11 BCL2 like 11 gene DOID:9005539 Familial Prostate Cancer ISO RGD:734299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11800429 BCL2L11 BCL2 like 11 gene DOID:9352 type 2 diabetes mellitus ISO RGD:734299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 11800454 GPR26 G protein-coupled receptor 26 gene DOID:10283 prostate cancer ISO RGD:736769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11800454 GPR26 G protein-coupled receptor 26 gene DOID:630 genetic disease ISO RGD:736769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800498 TFPI tissue factor pathway inhibitor gene DOID:0050156 idiopathic pulmonary fibrosis severity ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:increased expression:Bronchoalveolar lavage,epithelial cell: PMID:10946084|REF_RGD_ID:11060143 11800498 TFPI tissue factor pathway inhibitor gene DOID:0060224 atrial fibrillation ISO RGD:61914 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:endocardium: PMID:14610015|REF_RGD_ID:1299121 11800498 TFPI tissue factor pathway inhibitor gene DOID:0080630 B-lymphoblastic leukemia/lymphoma treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:19874310|REF_RGD_ID:11341694 11800498 TFPI tissue factor pathway inhibitor gene DOID:0081267 graft-versus-host disease treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:20037809|REF_RGD_ID:11340209 11800498 TFPI tissue factor pathway inhibitor gene DOID:0111144 preterm premature rupture of the membranes ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:19012190|REF_RGD_ID:11340215 11800498 TFPI tissue factor pathway inhibitor gene DOID:0111902 thrombophilia due to activated protein C resistance ISO RGD:1344546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11703344 11800498 TFPI tissue factor pathway inhibitor gene DOID:10591 pre-eclampsia ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:10078579|REF_RGD_ID:11060132 11800498 TFPI tissue factor pathway inhibitor gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:1344546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7740478 11800498 TFPI tissue factor pathway inhibitor gene DOID:10772 thrombotic thrombocytopenic purpura treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:7740478|REF_RGD_ID:11340214 11800498 TFPI tissue factor pathway inhibitor gene DOID:11247 disseminated intravascular coagulation ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:11074537|REF_RGD_ID:11060128 11800498 TFPI tissue factor pathway inhibitor gene DOID:11247 disseminated intravascular coagulation ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:8914465|REF_RGD_ID:11060253 11800498 TFPI tissue factor pathway inhibitor gene DOID:11247 disseminated intravascular coagulation ISO RGD:61914 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung, plasma PMID:9426395|REF_RGD_ID:11060265 11800498 TFPI tissue factor pathway inhibitor gene DOID:11247 disseminated intravascular coagulation treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:8292719|PMID:8929465|REF_RGD_ID:11062067|REF_RGD_ID:11341674 11800498 TFPI tissue factor pathway inhibitor gene DOID:1168 familial hyperlipidemia ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:8914465|REF_RGD_ID:11060253 11800498 TFPI tissue factor pathway inhibitor gene DOID:1184 nephrotic syndrome ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22319062|REF_RGD_ID:11341665 11800498 TFPI tissue factor pathway inhibitor gene DOID:12134 factor VIII deficiency ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:24263002|REF_RGD_ID:11060141 11800498 TFPI tissue factor pathway inhibitor gene DOID:12134 factor VIII deficiency ISO RGD:62207 D RGD:9068941 20200609 RGD PMID:22355108|REF_RGD_ID:11060147 11800498 TFPI tissue factor pathway inhibitor gene DOID:12134 factor VIII deficiency treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:24687919|REF_RGD_ID:11060256 11800498 TFPI tissue factor pathway inhibitor gene DOID:1240 leukemia treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:18549615|REF_RGD_ID:11060254 11800498 TFPI tissue factor pathway inhibitor gene DOID:1240 leukemia treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:decreased activity:plasma: PMID:12206017|REF_RGD_ID:11060255 11800498 TFPI tissue factor pathway inhibitor gene DOID:14115 toxic shock syndrome treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:11776329|REF_RGD_ID:11062085 11800498 TFPI tissue factor pathway inhibitor gene DOID:14566 disease of cellular proliferation ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:11864704|REF_RGD_ID:11060133 11800498 TFPI tissue factor pathway inhibitor gene DOID:2216 factor V deficiency ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:18695002|REF_RGD_ID:11060145 11800498 TFPI tissue factor pathway inhibitor gene DOID:224 transient cerebral ischemia treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:18067952|REF_RGD_ID:11062087 11800498 TFPI tissue factor pathway inhibitor gene DOID:2451 protein S deficiency ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:23079294|REF_RGD_ID:11060129 11800498 TFPI tissue factor pathway inhibitor gene DOID:2451 protein S deficiency ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:20002538|REF_RGD_ID:11060140 11800498 TFPI tissue factor pathway inhibitor gene DOID:3770 pulmonary fibrosis treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:16338226|REF_RGD_ID:11062084 11800498 TFPI tissue factor pathway inhibitor gene DOID:5082 liver cirrhosis ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:23841464|REF_RGD_ID:11060135 11800498 TFPI tissue factor pathway inhibitor gene DOID:5425 ovarian hyperstimulation syndrome severity ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:12695751|REF_RGD_ID:11340210 11800498 TFPI tissue factor pathway inhibitor gene DOID:5844 myocardial infarction ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:14656922|PMID:15630488|REF_RGD_ID:11060131|REF_RGD_ID:11060139 11800498 TFPI tissue factor pathway inhibitor gene DOID:5844 myocardial infarction treatment ISO RGD:61914 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:heart: PMID:21229253|REF_RGD_ID:11062083 11800498 TFPI tissue factor pathway inhibitor gene DOID:630 genetic disease ISO RGD:1344546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800498 TFPI tissue factor pathway inhibitor gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1344546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11800498 TFPI tissue factor pathway inhibitor gene DOID:9001268 Embolism and Thrombosis ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:15467899|REF_RGD_ID:11341677 11800498 TFPI tissue factor pathway inhibitor gene DOID:9001650 Pregnancy-Induced Hypertension ISO RGD:61914 D RGD:9068941 20200609 RGD mRNA:decreased expression:aorta: PMID:26104991|REF_RGD_ID:11062065 11800498 TFPI tissue factor pathway inhibitor gene DOID:9001916 Fetal Death ISO RGD:62207 D RGD:9068941 20200609 RGD associated with Hemorrhage; PMID:9242522|REF_RGD_ID:11060259 11800498 TFPI tissue factor pathway inhibitor gene DOID:9002159 Liver Reperfusion Injury ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:9921794|REF_RGD_ID:11062061 11800498 TFPI tissue factor pathway inhibitor gene DOID:9002514 Neointima ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:10521388|REF_RGD_ID:11060274 11800498 TFPI tissue factor pathway inhibitor gene DOID:9002514 Neointima treatment ISO RGD:61914 D RGD:9068941 20200609 RGD PMID:22140576|REF_RGD_ID:11341672 11800498 TFPI tissue factor pathway inhibitor gene DOID:9002669 Hypoxia ISO RGD:1344546 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23727623 11800498 TFPI tissue factor pathway inhibitor gene DOID:9003049 Femur Head Necrosis ISO RGD:61914 D RGD:9068941 20200609 RGD protein:increased expression:femur head: PMID:23063054|REF_RGD_ID:11062059 11800498 TFPI tissue factor pathway inhibitor gene DOID:9003049 Femur Head Necrosis susceptibility ISO RGD:1344546 D RGD:9068941 20200609 RGD DNA:haplotype: : PMID:18695356|REF_RGD_ID:11060260 11800498 TFPI tissue factor pathway inhibitor gene DOID:9003505 Venous Thromboembolism ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:14691572|REF_RGD_ID:11060266 11800498 TFPI tissue factor pathway inhibitor gene DOID:9003871 Venous Thrombosis ISO RGD:1344546 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18480984 11800498 TFPI tissue factor pathway inhibitor gene DOID:9003871 Venous Thrombosis ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:12560220|REF_RGD_ID:11060137 11800498 TFPI tissue factor pathway inhibitor gene DOID:9003871 Venous Thrombosis ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:18600090|REF_RGD_ID:11060130 11800498 TFPI tissue factor pathway inhibitor gene DOID:9003871 Venous Thrombosis ISO RGD:62207 D RGD:9068941 20200609 RGD PMID:17973652|REF_RGD_ID:11060257 11800498 TFPI tissue factor pathway inhibitor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11800498 TFPI tissue factor pathway inhibitor gene DOID:9004484 Sepsis ISO RGD:61914 D RGD:9068941 20200609 RGD protein:decreased activity:plasma: PMID:15497025|REF_RGD_ID:2313648 11800498 TFPI tissue factor pathway inhibitor gene DOID:9005700 Airway Obstruction ISO RGD:1344546 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23727623 11800498 TFPI tissue factor pathway inhibitor gene DOID:9005700 Airway Obstruction treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:23727623|REF_RGD_ID:11062088 11800498 TFPI tissue factor pathway inhibitor gene DOID:9005930 Endotoxemia treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:17537762|REF_RGD_ID:11062086 11800498 TFPI tissue factor pathway inhibitor gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:11796005|REF_RGD_ID:11062062 11800498 TFPI tissue factor pathway inhibitor gene DOID:9007730 Burns ISO RGD:61914 D RGD:9068941 20200609 RGD protein:decreased activity:plasma: PMID:15497025|REF_RGD_ID:2313648 11800498 TFPI tissue factor pathway inhibitor gene DOID:9008691 Liver Injury treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:10216139|REF_RGD_ID:11341667 11800498 TFPI tissue factor pathway inhibitor gene DOID:9074 systemic lupus erythematosus ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:11709459|REF_RGD_ID:11060258 11800498 TFPI tissue factor pathway inhibitor gene DOID:9351 diabetes mellitus ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:8914465|REF_RGD_ID:11060253 11800513 CXCR6 C-X-C motif chemokine receptor 6 gene DOID:418 systemic scleroderma ISO RGD:1352090 D RGD:9068941 20200609 RGD protein:increased expression:skin, endothelial cell PMID:21303517|REF_RGD_ID:5135279 11800513 CXCR6 C-X-C motif chemokine receptor 6 gene DOID:630 genetic disease ISO RGD:1352090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800513 CXCR6 C-X-C motif chemokine receptor 6 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1352090 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11800523 TRIP4 thyroid hormone receptor interactor 4 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1315680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11800523 TRIP4 thyroid hormone receptor interactor 4 gene DOID:2717 Bloom syndrome ISO RGD:1315680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11800523 TRIP4 thyroid hormone receptor interactor 4 gene DOID:630 genetic disease ISO RGD:1315680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11800523 TRIP4 thyroid hormone receptor interactor 4 gene DOID:9006286 Congenital Muscular Dystrophy, Davignon-Chauveau Type ISO RGD:1315680 D RGD:7240710 20190315 OMIM 11800523 TRIP4 thyroid hormone receptor interactor 4 gene DOID:9006286 Congenital Muscular Dystrophy, Davignon-Chauveau Type ISO RGD:1315680 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, congenital, davignon-chauveau type PMID:25741868|PMID:27008887|PMID:28492532|PMID:31794073 11800523 TRIP4 thyroid hormone receptor interactor 4 gene DOID:9007140 Spinal Muscular Atrophy with Congenital Bone Fractures 1 ISO RGD:1315680 D RGD:7240710 20190315 OMIM 11800523 TRIP4 thyroid hormone receptor interactor 4 gene DOID:9007140 Spinal Muscular Atrophy with Congenital Bone Fractures 1 ISO RGD:1315680 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy with congenital bone fractures 1 PMID:25741868|PMID:26924529|PMID:28492532 11800523 TRIP4 thyroid hormone receptor interactor 4 gene DOID:9256 colorectal cancer ISO RGD:1315680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11800541 NCAPH non-SMC condensin I complex subunit H gene DOID:0080600 COVID-19 ISO RGD:1352198 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11800541 NCAPH non-SMC condensin I complex subunit H gene DOID:1059 intellectual disability ISO RGD:1352198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11800541 NCAPH non-SMC condensin I complex subunit H gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352198 D RGD:9068941 20220225 RGD protein:decreased expression:lung (human) PMID:32945371|REF_RGD_ID:151356931 11800541 NCAPH non-SMC condensin I complex subunit H gene DOID:5419 schizophrenia ISO RGD:1352198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11800541 NCAPH non-SMC condensin I complex subunit H gene DOID:630 genetic disease ISO RGD:1352198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800541 NCAPH non-SMC condensin I complex subunit H gene DOID:684 hepatocellular carcinoma ISO RGD:1352198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11800541 NCAPH non-SMC condensin I complex subunit H gene DOID:9002582 Primary Autosomal Recessive Microcephaly 23 ISO RGD:1352198 D RGD:7240710 20190315 OMIM 11800541 NCAPH non-SMC condensin I complex subunit H gene DOID:9002582 Primary Autosomal Recessive Microcephaly 23 ISO RGD:1352198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 23, primary, autosomal recessive PMID:25741868|PMID:27737959 11800579 CCDC28B coiled-coil domain containing 28B gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1603961 D RGD:7240710 20180130 OMIM 11800579 CCDC28B coiled-coil domain containing 28B gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1603961 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of PMID:12677556|PMID:16327777|PMID:25741868|PMID:28492532|PMID:29127258 11800579 CCDC28B coiled-coil domain containing 28B gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1603961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12677556|PMID:16327777|PMID:29127258 11800579 CCDC28B coiled-coil domain containing 28B gene DOID:630 genetic disease ISO RGD:1603961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800596 CANX calnexin gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:737068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 11800596 CANX calnexin gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:737068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11800596 CANX calnexin gene DOID:0112103 Sotos syndrome 1 ISO RGD:737068 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11800596 CANX calnexin gene DOID:630 genetic disease ISO RGD:737068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800596 CANX calnexin gene DOID:9007102 Myocardial Ischemia ISO RGD:737068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11800596 CANX calnexin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11800596 CANX calnexin gene DOID:9970 obesity ISO RGD:737068 D RGD:9068941 20200609 RGD protein:increased expression:subcutaneous adipose tissue PMID:18567819|REF_RGD_ID:2314284 11800624 C16H16orf86 chromosome 16 C16orf86 homolog gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:1604692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 11800624 C16H16orf86 chromosome 16 C16orf86 homolog gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1604692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11800624 C16H16orf86 chromosome 16 C16orf86 homolog gene DOID:630 genetic disease ISO RGD:1604692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800641 LOC100982991 uncharacterized LOC100982991 gene DOID:630 genetic disease ISO RGD:1605384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800641 LOC100982991 uncharacterized LOC100982991 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1605384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11800648 TFAP2D transcription factor AP-2 delta gene DOID:630 genetic disease ISO RGD:1347905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800660 RNPC3 RNA binding region (RNP1, RRM) containing 3 gene DOID:0060870 isolated growth hormone deficiency ISO RGD:1350307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Growth hormone deficiency PMID:24480542|PMID:29255062 11800660 RNPC3 RNA binding region (RNP1, RRM) containing 3 gene DOID:0111510 Marshall syndrome ISO RGD:1350307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marshall syndrome PMID:25741868 11800660 RNPC3 RNA binding region (RNP1, RRM) containing 3 gene DOID:12849 autistic disorder ISO RGD:1350307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11800660 RNPC3 RNA binding region (RNP1, RRM) containing 3 gene DOID:1826 epilepsy ISO RGD:1350307 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11800660 RNPC3 RNA binding region (RNP1, RRM) containing 3 gene DOID:630 genetic disease ISO RGD:1350307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800660 RNPC3 RNA binding region (RNP1, RRM) containing 3 gene DOID:9009240 Isolated Growth Hormone Deficiency Type V ISO RGD:1350307 D RGD:7240710 20190315 OMIM 11800660 RNPC3 RNA binding region (RNP1, RRM) containing 3 gene DOID:9009240 Isolated Growth Hormone Deficiency Type V ISO RGD:1350307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 7 PMID:24480542|PMID:25741868|PMID:29255062|PMID:32462814|PMID:33650182 11800694 ZNF589 zinc finger protein 589 gene DOID:630 genetic disease ISO RGD:1353484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800694 ZNF589 zinc finger protein 589 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1353484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11800704 IFT27 intraflagellar transport 27 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1318628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11800704 IFT27 intraflagellar transport 27 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1318628 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11800704 IFT27 intraflagellar transport 27 gene DOID:0110141 Bardet-Biedl syndrome 19 ISO RGD:1318628 D RGD:7240710 20180130 OMIM 11800704 IFT27 intraflagellar transport 27 gene DOID:0110141 Bardet-Biedl syndrome 19 ISO RGD:1318628 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 19 PMID:24488770|PMID:25741868|PMID:28492532|PMID:29704304|PMID:30761183 11800704 IFT27 intraflagellar transport 27 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1318628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11800704 IFT27 intraflagellar transport 27 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1318628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11800704 IFT27 intraflagellar transport 27 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1318628 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532|PMID:29704304|PMID:30761183 11800704 IFT27 intraflagellar transport 27 gene DOID:630 genetic disease ISO RGD:1318628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11800728 CPSF1 cleavage and polyadenylation specific factor 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1315001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11800728 CPSF1 cleavage and polyadenylation specific factor 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1315001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11800728 CPSF1 cleavage and polyadenylation specific factor 1 gene DOID:4621 holoprosencephaly ISO RGD:1315001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11800728 CPSF1 cleavage and polyadenylation specific factor 1 gene DOID:630 genetic disease ISO RGD:1315001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800728 CPSF1 cleavage and polyadenylation specific factor 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1315001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11800728 CPSF1 cleavage and polyadenylation specific factor 1 gene DOID:9000382 Myopia 27 ISO RGD:1315001 D RGD:7240710 20200408 OMIM 11800728 CPSF1 cleavage and polyadenylation specific factor 1 gene DOID:9000382 Myopia 27 ISO RGD:1315001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia 27 PMID:28492532|PMID:30689892 11800728 CPSF1 cleavage and polyadenylation specific factor 1 gene DOID:9000918 Disease Progression ISO RGD:1315001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11800772 EGR2 early growth response 2 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1352442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1 PMID:10369870|PMID:10371530|PMID:10502832|PMID:10762521|PMID:11239949|PMID:11523566|PMID:11545686|PMID:11734543|PMID:12471219|PMID:12525712|PMID:12609493|PMID:15241803|PMID:15947997|PMID:16198564|PMID:17717711|PMID:20301384|PMID:20513111|PMID:22546699|PMID:22734907|PMID:22765307|PMID:25720245|PMID:25741868|PMID:26204789|PMID:26467025|PMID:27013732|PMID:27159987|PMID:27164712|PMID:27422849|PMID:28492532|PMID:30843326|PMID:30889162|PMID:31673878|PMID:31919945|PMID:32376792|PMID:32528171|PMID:32896048|PMID:34169998|PMID:9537424 11800772 EGR2 early growth response 2 gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:1352442 D RGD:7240710 20180425 OMIM 11800772 EGR2 early growth response 2 gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:1352442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dejerine-Sottas disease | ClinVar Annotator: match by term: Dejerine-sottas neuropathy, autosomal dominant PMID:10369870|PMID:10371530|PMID:11523566|PMID:15947997|PMID:16198564|PMID:17717711|PMID:20301384|PMID:22546699|PMID:25741868|PMID:27013732|PMID:27159987|PMID:28492532|PMID:30843326 11800772 EGR2 early growth response 2 gene DOID:0110150 Charcot-Marie-Tooth disease type 1D ISO RGD:1352442 D RGD:7240710 20180130 OMIM 11800772 EGR2 early growth response 2 gene DOID:0110150 Charcot-Marie-Tooth disease type 1D ISO RGD:1352442 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1D | ClinVar Annotator: match by term: HMSN 1D PMID:10369870|PMID:10371530|PMID:10762521|PMID:11239949|PMID:11523566|PMID:11545686|PMID:11734543|PMID:12471219|PMID:12525712|PMID:12609493|PMID:15241803|PMID:15947997|PMID:16198564|PMID:17717711|PMID:20301384|PMID:20513111|PMID:22734907|PMID:22765307|PMID:25720245|PMID:25741868|PMID:26467025|PMID:27159987|PMID:28492532|PMID:31673878|PMID:32376792 11800772 EGR2 early growth response 2 gene DOID:0110195 Charcot-Marie-Tooth disease type 4E ISO RGD:1352442 D RGD:7240710 20180130 OMIM 11800772 EGR2 early growth response 2 gene DOID:0110195 Charcot-Marie-Tooth disease type 4E ISO RGD:1352442 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E PMID:10369870|PMID:17717711|PMID:20301384|PMID:20301641|PMID:25741868|PMID:28492532|PMID:9537424 11800772 EGR2 early growth response 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1352442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10369870|PMID:10371530|PMID:10502832|PMID:10762521|PMID:11239949|PMID:11523566|PMID:11545686|PMID:11734543|PMID:12471219|PMID:12609493|PMID:15241803|PMID:15947997|PMID:16198564|PMID:17717711|PMID:20301384|PMID:20513111|PMID:21149811|PMID:22271166|PMID:22546699|PMID:22734907|PMID:22765307|PMID:25720245|PMID:25741868|PMID:26467025|PMID:27013732|PMID:27159987|PMID:27164712|PMID:27422849|PMID:28492532|PMID:30843326|PMID:31673878|PMID:31919945|PMID:32376792|PMID:32896048|PMID:34169998 11800772 EGR2 early growth response 2 gene DOID:1206 Rett syndrome ISO RGD:1352442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19000991 11800772 EGR2 early growth response 2 gene DOID:12849 autistic disorder ISO RGD:1352442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19000991 11800772 EGR2 early growth response 2 gene DOID:2477 motor peripheral neuropathy ISO RGD:1352442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11800772 EGR2 early growth response 2 gene DOID:2477 motor peripheral neuropathy ISO RGD:1352442 D RGD:9068941 20200609 RGD Dejerine-Sottas neuropathy, OMIM:145900;DNA:point mutation:exon:R359W PMID:12970165|REF_RGD_ID:1601014 11800772 EGR2 early growth response 2 gene DOID:2477 motor peripheral neuropathy ISO RGD:1352442 D RGD:9068941 20200609 RGD congenital hypomyelinating neuropathy, OMIM:605253;DNA:point mutation:exon:I268N PMID:10369870|REF_RGD_ID:1601012 11800772 EGR2 early growth response 2 gene DOID:308 early myoclonic encephalopathy ISO RGD:1352442 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy PMID:28492532 11800772 EGR2 early growth response 2 gene DOID:3369 Ewing sarcoma ISO RGD:1352442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26214589 11800772 EGR2 early growth response 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:621608 D RGD:9068941 20200609 RGD PMID:22645329|REF_RGD_ID:10395314 11800772 EGR2 early growth response 2 gene DOID:607 paraplegia ISO RGD:1352442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 11800772 EGR2 early growth response 2 gene DOID:630 genetic disease ISO RGD:1352442 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10762521|PMID:12471219|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30889162|PMID:32376792|PMID:34323022 11800772 EGR2 early growth response 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1352442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11800772 EGR2 early growth response 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1352442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11800772 EGR2 early growth response 2 gene DOID:9008331 Tendon Injuries treatment ISO RGD:621608 D RGD:9068941 20200609 RGD PMID:23519232|REF_RGD_ID:10395300 11800786 BRD8 bromodomain containing 8 gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:1307003 D RGD:9068941 20200609 RGD PMID:19787264|REF_RGD_ID:9587763 11800786 BRD8 bromodomain containing 8 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1315939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11800786 BRD8 bromodomain containing 8 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1315939 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11800786 BRD8 bromodomain containing 8 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1315939 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 11800786 BRD8 bromodomain containing 8 gene DOID:289 endometriosis ISO RGD:1315939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 11800786 BRD8 bromodomain containing 8 gene DOID:630 genetic disease ISO RGD:1315939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800786 BRD8 bromodomain containing 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11800786 BRD8 bromodomain containing 8 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315939 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11800834 FMO4 flavin containing dimethylaniline monoxygenase 4 gene DOID:0060041 autism spectrum disorder ISO RGD:731768 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11800834 FMO4 flavin containing dimethylaniline monoxygenase 4 gene DOID:1540 parathyroid carcinoma ISO RGD:731768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11800834 FMO4 flavin containing dimethylaniline monoxygenase 4 gene DOID:630 genetic disease ISO RGD:731768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800834 FMO4 flavin containing dimethylaniline monoxygenase 4 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:731768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 11800834 FMO4 flavin containing dimethylaniline monoxygenase 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11800848 POU4F3 POU class 4 homeobox 3 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1321371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587 11800848 POU4F3 POU class 4 homeobox 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321371 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11800848 POU4F3 POU class 4 homeobox 3 gene DOID:0110546 autosomal dominant nonsyndromic deafness 15 ISO RGD:1321371 D RGD:7240710 20180130 OMIM 11800848 POU4F3 POU class 4 homeobox 3 gene DOID:0110546 autosomal dominant nonsyndromic deafness 15 ISO RGD:1321371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 15 PMID:14585957|PMID:18228599|PMID:20434433|PMID:24033266|PMID:24260153|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29850532|PMID:30311386|PMID:32684921|PMID:32747562|PMID:9506947 11800848 POU4F3 POU class 4 homeobox 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1321371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital sensorineural hearing impairment PMID:25741868 11800848 POU4F3 POU class 4 homeobox 3 gene DOID:630 genetic disease ISO RGD:1321371 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532|PMID:30311386 11800848 POU4F3 POU class 4 homeobox 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11800848 POU4F3 POU class 4 homeobox 3 gene DOID:9004538 Hearing Loss ISO RGD:1321371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30311386 11800848 POU4F3 POU class 4 homeobox 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321371 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11800848 POU4F3 POU class 4 homeobox 3 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1321371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:28492532 11800848 POU4F3 POU class 4 homeobox 3 gene DOID:9008681 Deafness ISO RGD:1321371 D RGD:9068941 20200609 RGD PMID:9506947|REF_RGD_ID:1599168 11800854 PPP1R15A protein phosphatase 1 regulatory subunit 15A gene DOID:0060478 Zika fever ISO RGD:732704 D RGD:9068941 20200702 RGD mRNA:increased expression:brain PMID:30241539|REF_RGD_ID:32733625 11800854 PPP1R15A protein phosphatase 1 regulatory subunit 15A gene DOID:10241 thalassemia ISO RGD:732704 D RGD:9068941 20220825 MouseDO 11800854 PPP1R15A protein phosphatase 1 regulatory subunit 15A gene DOID:224 transient cerebral ischemia ISO RGD:621526 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:15255948|REF_RGD_ID:9999154 11800854 PPP1R15A protein phosphatase 1 regulatory subunit 15A gene DOID:2316 brain ischemia ISO RGD:621526 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, caudate nucleus (rat) PMID:15713259|REF_RGD_ID:9999408 11800854 PPP1R15A protein phosphatase 1 regulatory subunit 15A gene DOID:3213 demyelinating disease severity ISO RGD:732704 D RGD:9068941 20200609 RGD PMID:18818381|REF_RGD_ID:9999156 11800854 PPP1R15A protein phosphatase 1 regulatory subunit 15A gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732704 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord, astrocyte, microglia (mouse) PMID:23118353|REF_RGD_ID:9999418 11800854 PPP1R15A protein phosphatase 1 regulatory subunit 15A gene DOID:630 genetic disease ISO RGD:1342864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800854 PPP1R15A protein phosphatase 1 regulatory subunit 15A gene DOID:9000039 Spinal Cord Injuries ISO RGD:1342864 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 11800854 PPP1R15A protein phosphatase 1 regulatory subunit 15A gene DOID:9000039 Spinal Cord Injuries ISO RGD:621526 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord (rat) PMID:17578450|REF_RGD_ID:9999410 11800854 PPP1R15A protein phosphatase 1 regulatory subunit 15A gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1342864 D RGD:9068941 20200702 RGD mRNA,protein:increased expression:liver PMID:26234401|REF_RGD_ID:32716425 11800854 PPP1R15A protein phosphatase 1 regulatory subunit 15A gene DOID:9002804 Amaurosis Fugax ISO RGD:732704 D RGD:9068941 20200609 RGD mRNA:increased expression:neuroretina (mouse) PMID:17975099|REF_RGD_ID:9999160 11800854 PPP1R15A protein phosphatase 1 regulatory subunit 15A gene DOID:9002884 Emphysema ISO RGD:621526 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:22675432|REF_RGD_ID:9999407 11800854 PPP1R15A protein phosphatase 1 regulatory subunit 15A gene DOID:9007096 Stroke treatment ISO RGD:621526 D RGD:9068941 20200609 RGD PMID:24573692|REF_RGD_ID:9999417 11800854 PPP1R15A protein phosphatase 1 regulatory subunit 15A gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:1342864 D RGD:9068941 20200609 RGD mRNA:increased expression:jejunum (human) PMID:20965186|REF_RGD_ID:9999150 11800854 PPP1R15A protein phosphatase 1 regulatory subunit 15A gene DOID:9008163 Chronic Hepatitis B ISO RGD:1342864 D RGD:9068941 20200702 RGD mRNA,protein:increased expression:liver PMID:26234401|REF_RGD_ID:32716425 11800861 PTPN9 protein tyrosine phosphatase non-receptor type 9 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1353327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 11800861 PTPN9 protein tyrosine phosphatase non-receptor type 9 gene DOID:1826 epilepsy ISO RGD:1353327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11800861 PTPN9 protein tyrosine phosphatase non-receptor type 9 gene DOID:2717 Bloom syndrome ISO RGD:1353327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11800861 PTPN9 protein tyrosine phosphatase non-receptor type 9 gene DOID:5419 schizophrenia ISO RGD:1353327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11800861 PTPN9 protein tyrosine phosphatase non-receptor type 9 gene DOID:630 genetic disease ISO RGD:1353327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800861 PTPN9 protein tyrosine phosphatase non-receptor type 9 gene DOID:9256 colorectal cancer ISO RGD:1353327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11800878 LOC100994472 keratin-associated protein 20-3 gene DOID:630 genetic disease ISO RGD:1350262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800883 SPMIP3 sperm associated microtubule inner protein 3 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1603542 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11800883 SPMIP3 sperm associated microtubule inner protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1603542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11800883 SPMIP3 sperm associated microtubule inner protein 3 gene DOID:9002186 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 ISO RGD:1603542 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 PMID:25087610 11800883 SPMIP3 sperm associated microtubule inner protein 3 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1603542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:28492532 11800883 SPMIP3 sperm associated microtubule inner protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11800892 GBP2 guanylate binding protein 2 gene DOID:630 genetic disease ISO RGD:736152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800892 GBP2 guanylate binding protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11800892 GBP2 guanylate binding protein 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:736152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11800911 PLD5 phospholipase D family member 5 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1603543 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11800911 PLD5 phospholipase D family member 5 gene DOID:0111261 fumarase deficiency ISO RGD:1603543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fumarase deficiency PMID:11865300|PMID:12761039|PMID:21398687|PMID:22069215|PMID:28300276|PMID:28492532 11800911 PLD5 phospholipase D family member 5 gene DOID:12849 autistic disorder ISO RGD:1603543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20663923 11800911 PLD5 phospholipase D family member 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1603543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11800911 PLD5 phospholipase D family member 5 gene DOID:630 genetic disease ISO RGD:1603543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800911 PLD5 phospholipase D family member 5 gene DOID:9002186 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 ISO RGD:1603543 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 PMID:25087610 11800911 PLD5 phospholipase D family member 5 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1603543 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:20835237|PMID:28492532 11800911 PLD5 phospholipase D family member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11800911 PLD5 phospholipase D family member 5 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1603543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 11800911 PLD5 phospholipase D family member 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11800969 DCTN3 dynactin subunit 3 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1319944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11800969 DCTN3 dynactin subunit 3 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1319944 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11800969 DCTN3 dynactin subunit 3 gene DOID:0080942 anauxetic dysplasia ISO RGD:1319944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11800969 DCTN3 dynactin subunit 3 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1319944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11800969 DCTN3 dynactin subunit 3 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1319944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11800969 DCTN3 dynactin subunit 3 gene DOID:630 genetic disease ISO RGD:1319944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11800969 DCTN3 dynactin subunit 3 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1319944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11800969 DCTN3 dynactin subunit 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1319944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11800969 DCTN3 dynactin subunit 3 gene DOID:9870 galactosemia ISO RGD:1319944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11800981 NAXD NAD(P)HX dehydratase gene DOID:0111489 combined oxidative phosphorylation deficiency 27 ISO RGD:1601864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27 PMID:28492532 11800981 NAXD NAD(P)HX dehydratase gene DOID:2222 factor X deficiency ISO RGD:1601864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 11800981 NAXD NAD(P)HX dehydratase gene DOID:630 genetic disease ISO RGD:1601864 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11800981 NAXD NAD(P)HX dehydratase gene DOID:9000217 Stomach Neoplasms ISO RGD:1601864 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11800981 NAXD NAD(P)HX dehydratase gene DOID:9000918 Disease Progression ISO RGD:1601864 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11800981 NAXD NAD(P)HX dehydratase gene DOID:9001541 Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 2 ISO RGD:1601864 D RGD:7240710 20190315 OMIM 11800981 NAXD NAD(P)HX dehydratase gene DOID:9001541 Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 2 ISO RGD:1601864 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 PMID:25741868|PMID:28492532|PMID:30576410|PMID:31755961|PMID:32462209|PMID:35231119 11800981 NAXD NAD(P)HX dehydratase gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1601864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11801010 NAA15 N-alpha-acetyltransferase 15, NatA auxiliary subunit gene DOID:0060041 autism spectrum disorder ISO RGD:1343133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11801010 NAA15 N-alpha-acetyltransferase 15, NatA auxiliary subunit gene DOID:0080233 autosomal dominant intellectual developmental disorder 50 ISO RGD:1343133 D RGD:7240710 20190315 OMIM 11801010 NAA15 N-alpha-acetyltransferase 15, NatA auxiliary subunit gene DOID:0080233 autosomal dominant intellectual developmental disorder 50 ISO RGD:1343133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 50, WITH BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 | ClinVar Annotator: match by term: NAA15-related syndrome PMID:23665959|PMID:25741868|PMID:26785492|PMID:28191889|PMID:28303347|PMID:28492532|PMID:28990276|PMID:29656860|PMID:30792901|PMID:31127942 11801010 NAA15 N-alpha-acetyltransferase 15, NatA auxiliary subunit gene DOID:1059 intellectual disability ISO RGD:1343133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities 11801010 NAA15 N-alpha-acetyltransferase 15, NatA auxiliary subunit gene DOID:12849 autistic disorder ISO RGD:1343133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic disorder 11801010 NAA15 N-alpha-acetyltransferase 15, NatA auxiliary subunit gene DOID:2234 focal epilepsy ISO RGD:1343133 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure 11801010 NAA15 N-alpha-acetyltransferase 15, NatA auxiliary subunit gene DOID:630 genetic disease ISO RGD:1343133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28191889|PMID:28303347|PMID:28492532|PMID:29656860|PMID:30564305|PMID:30792901 11801010 NAA15 N-alpha-acetyltransferase 15, NatA auxiliary subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11801010 NAA15 N-alpha-acetyltransferase 15, NatA auxiliary subunit gene DOID:9008086 Developmental Disabilities ISO RGD:1343133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28191889|PMID:28303347|PMID:29656860 11801010 NAA15 N-alpha-acetyltransferase 15, NatA auxiliary subunit gene DOID:9008582 Developmental Disease ISO RGD:1343133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11801040 LOC100988141 olfactory receptor 52N5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1347388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11801040 LOC100988141 olfactory receptor 52N5 gene DOID:630 genetic disease ISO RGD:1347388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801043 EIF4E3 eukaryotic translation initiation factor 4E family member 3 gene DOID:0080600 COVID-19 ISO RGD:1348241 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11801043 EIF4E3 eukaryotic translation initiation factor 4E family member 3 gene DOID:630 genetic disease ISO RGD:1348241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801043 EIF4E3 eukaryotic translation initiation factor 4E family member 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11801063 LOC100967410 aldo-keto reductase family 1 member B15 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:3516654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11801063 LOC100967410 aldo-keto reductase family 1 member B15 gene DOID:630 genetic disease ISO RGD:3516654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801083 HS3ST1 heparan sulfate-glucosamine 3-sulfotransferase 1 gene DOID:2349 arteriosclerosis ISO RGD:731446 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arteriosclerosis PMID:15266341|PMID:15965027|PMID:16024819|PMID:16410828|PMID:17179217|PMID:17558387|PMID:17568005|PMID:19122651|PMID:19303047|PMID:19858363|PMID:21152010|PMID:22090374|PMID:28126521 11801083 HS3ST1 heparan sulfate-glucosamine 3-sulfotransferase 1 gene DOID:3393 coronary artery disease ISO RGD:731446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease PMID:15266341|PMID:15965027|PMID:16024819|PMID:16410828|PMID:17179217|PMID:17558387|PMID:17568005|PMID:19122651|PMID:19303047|PMID:19858363|PMID:21152010|PMID:22090374|PMID:28126521 11801083 HS3ST1 heparan sulfate-glucosamine 3-sulfotransferase 1 gene DOID:630 genetic disease ISO RGD:731446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801089 CEP76 centrosomal protein 76 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1313060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11801089 CEP76 centrosomal protein 76 gene DOID:1059 intellectual disability ISO RGD:1313060 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11801089 CEP76 centrosomal protein 76 gene DOID:543 dystonia ISO RGD:1313060 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 11801089 CEP76 centrosomal protein 76 gene DOID:630 genetic disease ISO RGD:1313060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801089 CEP76 centrosomal protein 76 gene DOID:9007661 Dwarfism ISO RGD:1313060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11801107 RRAS2 RAS related 2 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1321899 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26457647 11801107 RRAS2 RAS related 2 gene DOID:0112170 Noonan syndrome 12 ISO RGD:1321899 D RGD:7240710 20191030 OMIM 11801107 RRAS2 RAS related 2 gene DOID:0112170 Noonan syndrome 12 ISO RGD:1321899 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Noonan syndrome 12 PMID:25741868|PMID:28492532|PMID:31130282|PMID:31130285|PMID:8052619 11801107 RRAS2 RAS related 2 gene DOID:1059 intellectual disability ISO RGD:1321899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11801107 RRAS2 RAS related 2 gene DOID:3490 Noonan syndrome ISO RGD:1321899 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Noonan syndrome PMID:25741868|PMID:28492532|PMID:31130282|PMID:31130285|PMID:8052619 11801107 RRAS2 RAS related 2 gene DOID:630 genetic disease ISO RGD:1321899 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31130282|PMID:31130285 11801107 RRAS2 RAS related 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1321899 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147764 11801107 RRAS2 RAS related 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1321899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:25741868|PMID:31130282|PMID:31130285|PMID:8052619 11801120 BECN1 beclin 1 gene DOID:0080322 polycystic kidney disease ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:renal cortex PMID:21270095|REF_RGD_ID:6483074 11801120 BECN1 beclin 1 gene DOID:0080322 polycystic kidney disease ISO RGD:736173 D RGD:9068941 20200609 RGD protein:increased expression:renal cortex PMID:21270095|REF_RGD_ID:6483074 11801120 BECN1 beclin 1 gene DOID:0080855 Parkinsonism ISO RGD:736173 D RGD:9068941 20200609 RGD PMID:19864570|REF_RGD_ID:6483312 11801120 BECN1 beclin 1 gene DOID:0080855 Parkinsonism treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:25424835|REF_RGD_ID:11558014 11801120 BECN1 beclin 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:21926933|REF_RGD_ID:6483068 11801120 BECN1 beclin 1 gene DOID:10652 Alzheimer's disease ISO RGD:733440 D RGD:9068941 20200609 RGD protein:decreased expression:gray matter PMID:18497889|REF_RGD_ID:6483101 11801120 BECN1 beclin 1 gene DOID:10652 Alzheimer's disease ISO RGD:736173 D RGD:9068941 20200609 RGD PMID:20863706|REF_RGD_ID:6483102 11801120 BECN1 beclin 1 gene DOID:10763 hypertension ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:23499735|REF_RGD_ID:11561939 11801120 BECN1 beclin 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:733440 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:25209900|REF_RGD_ID:11558015 11801120 BECN1 beclin 1 gene DOID:12010 anterior ischemic optic neuropathy ISO RGD:620190 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:21490676|REF_RGD_ID:6483070 11801120 BECN1 beclin 1 gene DOID:12217 Lewy body dementia ISO RGD:733440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19628769 11801120 BECN1 beclin 1 gene DOID:1440 Machado-Joseph disease ISO RGD:733440 D RGD:9068941 20200609 RGD PMID:21478185|REF_RGD_ID:6483072 11801120 BECN1 beclin 1 gene DOID:1440 Machado-Joseph disease ISO RGD:736173 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:21478185|REF_RGD_ID:6483072 11801120 BECN1 beclin 1 gene DOID:1596 depressive disorder disease_progression ISO RGD:733440 D RGD:9068941 20200609 RGD PMID:25386878|REF_RGD_ID:11561930 11801120 BECN1 beclin 1 gene DOID:1596 depressive disorder treatment ISO RGD:736173 D RGD:9068941 20200609 RGD PMID:25386878|REF_RGD_ID:11561930 11801120 BECN1 beclin 1 gene DOID:1612 breast cancer disease_progression ISO RGD:733440 D RGD:9068941 20221103 RGD PMID:33292020|REF_RGD_ID:155641236 11801120 BECN1 beclin 1 gene DOID:1686 glaucoma ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:eye PMID:22476098|REF_RGD_ID:6483048 11801120 BECN1 beclin 1 gene DOID:1824 status epilepticus ISO RGD:620190 D RGD:9068941 20200609 RGD mRNA:protein:increased expression PMID:19138675|REF_RGD_ID:6483096 11801120 BECN1 beclin 1 gene DOID:1824 status epilepticus ISO RGD:733440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19138675 11801120 BECN1 beclin 1 gene DOID:1826 epilepsy ISO RGD:620190 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:hippocampus PMID:20838925|REF_RGD_ID:6483076 11801120 BECN1 beclin 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:22509406|REF_RGD_ID:11561910 11801120 BECN1 beclin 1 gene DOID:2316 brain ischemia ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:19574998|REF_RGD_ID:6483094 11801120 BECN1 beclin 1 gene DOID:2316 brain ischemia ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, frontal cortex PMID:17936001|REF_RGD_ID:6483313 11801120 BECN1 beclin 1 gene DOID:3068 glioblastoma disease_progression ISO RGD:733440 D RGD:9068941 20200609 RGD PMID:20863706|REF_RGD_ID:6483102 11801120 BECN1 beclin 1 gene DOID:326 ischemia ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:25435100|REF_RGD_ID:11561945 11801120 BECN1 beclin 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736173 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:23851366|REF_RGD_ID:11561951 11801120 BECN1 beclin 1 gene DOID:3454 brain infarction ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:22227058|REF_RGD_ID:6483057 11801120 BECN1 beclin 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:22108007|REF_RGD_ID:11561900 11801120 BECN1 beclin 1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:22301112|REF_RGD_ID:11561943 11801120 BECN1 beclin 1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:733440 D RGD:9068941 20200609 RGD PMID:22301112|REF_RGD_ID:11561943 11801120 BECN1 beclin 1 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:733440 D RGD:9068941 20200609 RGD PMID:30849962|REF_RGD_ID:14974231 11801120 BECN1 beclin 1 gene DOID:5082 liver cirrhosis ISO RGD:733440 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:22895779|REF_RGD_ID:11561934 11801120 BECN1 beclin 1 gene DOID:5199 ureteral obstruction ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:cortex of kidney PMID:23314838|REF_RGD_ID:11561927 11801120 BECN1 beclin 1 gene DOID:5419 schizophrenia ISO RGD:620190 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus PMID:24365867|REF_RGD_ID:11561929 11801120 BECN1 beclin 1 gene DOID:5844 myocardial infarction ISO RGD:733440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20079142 11801120 BECN1 beclin 1 gene DOID:5844 myocardial infarction treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:20079142|REF_RGD_ID:11561913 11801120 BECN1 beclin 1 gene DOID:6000 congestive heart failure treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:18619688|REF_RGD_ID:11560532 11801120 BECN1 beclin 1 gene DOID:607 paraplegia ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:soleus muscle PMID:23055316|REF_RGD_ID:11557990 11801120 BECN1 beclin 1 gene DOID:630 genetic disease ISO RGD:733440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801120 BECN1 beclin 1 gene DOID:646 viral encephalitis ISO RGD:733440 D RGD:9068941 20200609 RGD associated with HIV infections;protein:increased expression:brain PMID:21592995|REF_RGD_ID:6483316 11801120 BECN1 beclin 1 gene DOID:783 end stage renal disease ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:24090408|REF_RGD_ID:11561926 11801120 BECN1 beclin 1 gene DOID:8283 peritonitis ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression: PMID:22001349|REF_RGD_ID:6483066 11801120 BECN1 beclin 1 gene DOID:8398 osteoarthritis ISO RGD:733440 D RGD:9068941 20200609 RGD protein:decreased expression:cartilage PMID:20187128|REF_RGD_ID:6483317 11801120 BECN1 beclin 1 gene DOID:8398 osteoarthritis ISO RGD:736173 D RGD:9068941 20200609 RGD protein:decreased expression:cartilage PMID:20187128|REF_RGD_ID:6483317 11801120 BECN1 beclin 1 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:733440 D RGD:9068941 20200609 RGD protein:increased expression:intestine PMID:20539009|REF_RGD_ID:6483081 11801120 BECN1 beclin 1 gene DOID:90 degenerative disc disease ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:intervertebral disc PMID:22835012|REF_RGD_ID:11561942 11801120 BECN1 beclin 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:24559459|REF_RGD_ID:11561918 11801120 BECN1 beclin 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:733440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 11801120 BECN1 beclin 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:736173 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:21806471|REF_RGD_ID:6483100 11801120 BECN1 beclin 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:23852559|REF_RGD_ID:11561922 11801120 BECN1 beclin 1 gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:24990154|REF_RGD_ID:11561988 11801120 BECN1 beclin 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:22521819|REF_RGD_ID:6483046 11801120 BECN1 beclin 1 gene DOID:9000998 Brain Injuries ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:24221859|REF_RGD_ID:11558018 11801120 BECN1 beclin 1 gene DOID:9000998 Brain Injuries ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:neuron, astrocyte PMID:18500386|REF_RGD_ID:6483098 11801120 BECN1 beclin 1 gene DOID:9000998 Brain Injuries ISO RGD:733440 D RGD:9068941 20220407 CTD CTD Direct Evidence: therapeutic PMID:34929507 11801120 BECN1 beclin 1 gene DOID:9000998 Brain Injuries ISO RGD:736173 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:16874043|REF_RGD_ID:6483314 11801120 BECN1 beclin 1 gene DOID:9002138 Spinal Cord Reperfusion Injury treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:25374587|REF_RGD_ID:11561952 11801120 BECN1 beclin 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:21866636|REF_RGD_ID:6483069 11801120 BECN1 beclin 1 gene DOID:9002211 Hyperalgesia ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:23665054|REF_RGD_ID:11560531 11801120 BECN1 beclin 1 gene DOID:9002514 Neointima ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:25238224|REF_RGD_ID:11558011 11801120 BECN1 beclin 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:basal ganglion PMID:23884876|REF_RGD_ID:11561935 11801120 BECN1 beclin 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:733440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20876807 11801120 BECN1 beclin 1 gene DOID:9002955 Nerve Degeneration ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:lumbar spinal cord ventral horn PMID:21436843|REF_RGD_ID:5685686 11801120 BECN1 beclin 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:25919564|REF_RGD_ID:11558017 11801120 BECN1 beclin 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:22449108|REF_RGD_ID:6483050 11801120 BECN1 beclin 1 gene DOID:9003936 Cardiomegaly ISO RGD:620190 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart left ventricle PMID:23326547|REF_RGD_ID:11561904 11801120 BECN1 beclin 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:24998254|REF_RGD_ID:11561938 11801120 BECN1 beclin 1 gene DOID:9004009 Reperfusion Injury ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:22306244|REF_RGD_ID:6483054 11801120 BECN1 beclin 1 gene DOID:9004332 Osteoarthritis, Experimental treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:23589102|REF_RGD_ID:11561955 11801120 BECN1 beclin 1 gene DOID:9004649 Heat Stroke ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:20823696|REF_RGD_ID:6483077 11801120 BECN1 beclin 1 gene DOID:9005172 Lung Neoplasms ISO RGD:733440 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22481206|PMID:23790316 11801120 BECN1 beclin 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:24993523|REF_RGD_ID:11557996 11801120 BECN1 beclin 1 gene DOID:9006008 Closed Head Injuries ISO RGD:736173 D RGD:9068941 20200609 RGD protein:increased expression:neuron PMID:16004578|REF_RGD_ID:6483315 11801120 BECN1 beclin 1 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:26412257|REF_RGD_ID:11561958 11801120 BECN1 beclin 1 gene DOID:9006281 Temporomandibular Joint Disorders ISO RGD:620190 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cartilage tissue PMID:23386193|REF_RGD_ID:10041017 11801120 BECN1 beclin 1 gene DOID:9007090 Experimental Seizures treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:23994218|REF_RGD_ID:11561923 11801120 BECN1 beclin 1 gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:736173 D RGD:9068941 20200609 RGD PMID:22850625|REF_RGD_ID:11560530 11801120 BECN1 beclin 1 gene DOID:9007730 Burns ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:24730400|REF_RGD_ID:11561936 11801120 BECN1 beclin 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:736173 D RGD:9068941 20200609 RGD PMID:20812860|REF_RGD_ID:11561944 11801120 BECN1 beclin 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:20821058|REF_RGD_ID:11561911 11801120 BECN1 beclin 1 gene DOID:9008022 Temporomandibular Joint Osteoarthritis ISO RGD:620190 D RGD:9068941 20200709 RGD PMID:31007149|REF_RGD_ID:34888237 11801120 BECN1 beclin 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:736173 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 11801120 BECN1 beclin 1 gene DOID:9206 Barrett's esophagus ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:22301112|REF_RGD_ID:11561943 11801120 BECN1 beclin 1 gene DOID:9206 Barrett's esophagus disease_progression ISO RGD:733440 D RGD:9068941 20200609 RGD PMID:22301112|REF_RGD_ID:11561943 11801120 BECN1 beclin 1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:21820301|REF_RGD_ID:11561956 11801120 BECN1 beclin 1 gene DOID:9743 diabetic neuropathy treatment ISO RGD:620190 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:25824552|REF_RGD_ID:11561957 11801144 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:733218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11801144 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0060001 withdrawal disorder ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18184829 11801144 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0060041 autism spectrum disorder ISO RGD:735795 D RGD:9068941 20220825 MouseDO 11801144 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0060257 dyschromatosis symmetrica hereditaria ISO RGD:733218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities PMID:22974014|PMID:28492532 11801144 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:733218 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy PMID:11062464|PMID:11104662|PMID:11906688|PMID:17576681|PMID:18414213|PMID:20736995|PMID:21703448|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 11801144 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:733218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy PMID:11062464|PMID:11104662|PMID:11906688|PMID:16199547|PMID:17576681|PMID:17900292|PMID:18414213|PMID:18456869|PMID:20736995|PMID:21703448|PMID:22036597|PMID:25741868|PMID:26467025|PMID:26475232|PMID:28488083|PMID:28492532|PMID:9536098 11801144 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0060684 autosomal dominant nocturnal frontal lobe epilepsy 3 ISO RGD:733218 D RGD:7240710 20180130 OMIM 11801144 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0060684 autosomal dominant nocturnal frontal lobe epilepsy 3 ISO RGD:733218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 3 PMID:11062464|PMID:11094099|PMID:11104662|PMID:11906688|PMID:17576681|PMID:17900292|PMID:18414213|PMID:18456869|PMID:20736995|PMID:21703448|PMID:22036597|PMID:25741868|PMID:26467025|PMID:26475232|PMID:28492532|PMID:9536098 11801144 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:733218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:11062464|PMID:11104662|PMID:11906688|PMID:16199547|PMID:17576681|PMID:17900292|PMID:18414213|PMID:18456869|PMID:20736995|PMID:21703448|PMID:22036597|PMID:25741868|PMID:26467025|PMID:26475232|PMID:28488083|PMID:28492532|PMID:9536098 11801144 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0111940 immunodeficiency 42 ISO RGD:733218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11801144 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:733218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11801144 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:733218 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 11801144 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:1059 intellectual disability ISO RGD:733218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11801144 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:10652 Alzheimer's disease ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17192785 11801144 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21748252 11801144 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:735795 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 11801144 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:12849 autistic disorder ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15046869 11801144 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:1540 parathyroid carcinoma ISO RGD:733218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11801144 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:1826 epilepsy ISO RGD:733218 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Generalized-onset seizure | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26475232|PMID:28492532 11801144 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:2030 anxiety disorder ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23419392 11801144 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:3327 partial motor epilepsy ISO RGD:733218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal clonic seizure PMID:25741868 11801144 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:3331 frontal lobe epilepsy ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14996991 11801144 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:535 sleep disorder ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12228730 11801144 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:5812 MHC class II deficiency ISO RGD:733218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11801144 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:630 genetic disease ISO RGD:733218 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11906688|PMID:17576681|PMID:18414213|PMID:20736995|PMID:21703448|PMID:25741868|PMID:26467025|PMID:26475232|PMID:28488083|PMID:28492532|PMID:9536098 11801144 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:9002395 Hypothermia ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14982698 11801144 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:9002955 Nerve Degeneration ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21715663 11801144 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:9005219 Abnormal Reflexes ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23419392 11801144 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:9005372 Inflammation ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20943775 11801144 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:9007 sudden infant death syndrome ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22000980 11801144 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11801155 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1318927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related 11801155 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1318927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy 11801155 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ISO RGD:1318928 D RGD:9068941 20220825 MouseDO OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 11801155 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1318927 D RGD:7240710 20180130 OMIM 11801155 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1318927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:12966029|PMID:15661757|PMID:16199547|PMID:17576681|PMID:17878207|PMID:18414213|PMID:19067344|PMID:21727005|PMID:24709677|PMID:25741868|PMID:26467025|PMID:27159402|PMID:28454995|PMID:28492532|PMID:28556411|PMID:9536098 11801155 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:0111242 congenital muscular dystrophy-dystroglycanopathy type A6 ISO RGD:1318927 D RGD:7240710 20180130 OMIM 11801155 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:0111242 congenital muscular dystrophy-dystroglycanopathy type A6 ISO RGD:1318927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 PMID:17436019|PMID:17878207|PMID:18414213|PMID:19067344|PMID:19299310|PMID:25741868|PMID:26467025|PMID:28492532 11801155 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1318927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 11801155 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:1318928 D RGD:9068941 20220825 MouseDO OMIM:158900 | OMIM:158901 11801155 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:630 genetic disease ISO RGD:1318927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 11801155 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:670 amphetamine abuse ISO RGD:1318927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11801155 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:9004657 Weight Gain ISO RGD:1318927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11801155 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1318927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11801155 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:9884 muscular dystrophy ISO RGD:1318927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:17878207|PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532 11801184 HDAC10 histone deacetylase 10 gene DOID:0060041 autism spectrum disorder ISO RGD:1314168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 11801184 HDAC10 histone deacetylase 10 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1314168 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 11801184 HDAC10 histone deacetylase 10 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1314168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11801184 HDAC10 histone deacetylase 10 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1314168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 11801184 HDAC10 histone deacetylase 10 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1314168 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 11801184 HDAC10 histone deacetylase 10 gene DOID:1059 intellectual disability ISO RGD:1314168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11801184 HDAC10 histone deacetylase 10 gene DOID:630 genetic disease ISO RGD:1314168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801211 ADD2 adducin 2 gene DOID:0110916 hereditary spherocytosis type 1 ISO RGD:10087 D RGD:9068941 20220825 MouseDO OMIM:182900 11801211 ADD2 adducin 2 gene DOID:10763 hypertension ISO RGD:2042 D RGD:9068941 20200609 RGD PMID:2059221|REF_RGD_ID:631712 11801211 ADD2 adducin 2 gene DOID:10763 hypertension ISO RGD:736575 D RGD:9068941 20200609 RGD DNA:SNP: :rs4852706 (human) PMID:24652215|REF_RGD_ID:10047131 11801211 ADD2 adducin 2 gene DOID:10763 hypertension no_association ISO RGD:736575 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:16497648|REF_RGD_ID:1625293 11801211 ADD2 adducin 2 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:736575 D RGD:9068941 20200609 RGD DNA:polymorphism:cds: rs4984(human) PMID:19838659|REF_RGD_ID:7174725 11801211 ADD2 adducin 2 gene DOID:576 proteinuria ISO RGD:10087 D RGD:9068941 20200609 RGD PMID:19838659|REF_RGD_ID:7174725 11801211 ADD2 adducin 2 gene DOID:630 genetic disease ISO RGD:736575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801237 RPS19 ribosomal protein S19 gene DOID:0081137 agammaglobulinemia 3 ISO RGD:68661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive PMID:28492532 11801237 RPS19 ribosomal protein S19 gene DOID:0111895 Diamond-Blackfan anemia 1 ISO RGD:68661 D RGD:7240710 20180606 OMIM 11801237 RPS19 ribosomal protein S19 gene DOID:0111895 Diamond-Blackfan anemia 1 ISO RGD:68661 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 PMID:10590074|PMID:10598818|PMID:10753603|PMID:11112378|PMID:12586610|PMID:12750732|PMID:15384984|PMID:16159874|PMID:17053056|PMID:17082006|PMID:17517689|PMID:17726054|PMID:18412286|PMID:18768533|PMID:20378560|PMID:20395159|PMID:20606162|PMID:20960466|PMID:23812780|PMID:24033266|PMID:24675553|PMID:24952648|PMID:25741868|PMID:27329125|PMID:28102861|PMID:28376382|PMID:28492532|PMID:31574871|PMID:33718801|PMID:9988267 11801237 RPS19 ribosomal protein S19 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:68661 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:10590074|PMID:10598818|PMID:10753603|PMID:11112378|PMID:12586610|PMID:12750732|PMID:15059149|PMID:15075082|PMID:15384984|PMID:15523650|PMID:16159874|PMID:16199547|PMID:17053056|PMID:17082006|PMID:17376718|PMID:17517689|PMID:17576681|PMID:17726054|PMID:18217898|PMID:18412286|PMID:18768533|PMID:19689926|PMID:20378560|PMID:20395159|PMID:20603584|PMID:20606162|PMID:20960466|PMID:22045982|PMID:22262766|PMID:22381658|PMID:22783360|PMID:23349008|PMID:24033266|PMID:24675553|PMID:24952648|PMID:25042156|PMID:25132370|PMID:25381059|PMID:25703294|PMID:25741868|PMID:25946618|PMID:26136524|PMID:26604301|PMID:27329125|PMID:27882484|PMID:28102861|PMID:28376382|PMID:28492532|PMID:29114930|PMID:29766597|PMID:30503522|PMID:31574871|PMID:33718801|PMID:35923690|PMID:36321656|PMID:3769971|PMID:9536098|PMID:9988267 11801237 RPS19 ribosomal protein S19 gene DOID:1342 congenital hypoplastic anemia ISO RGD:68661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11801237 RPS19 ribosomal protein S19 gene DOID:2340 craniosynostosis ISO RGD:68661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11801237 RPS19 ribosomal protein S19 gene DOID:5419 schizophrenia ISO RGD:68661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11801237 RPS19 ribosomal protein S19 gene DOID:687 hepatoblastoma ISO RGD:68661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:12586610|PMID:25741868|PMID:28492532 11801237 RPS19 ribosomal protein S19 gene DOID:9000217 Stomach Neoplasms ISO RGD:68661 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11801237 RPS19 ribosomal protein S19 gene DOID:9000918 Disease Progression ISO RGD:68661 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11801237 RPS19 ribosomal protein S19 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68661 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 11801237 RPS19 ribosomal protein S19 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:68661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11801237 RPS19 ribosomal protein S19 gene DOID:9269 maple syrup urine disease ISO RGD:68661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11801250 ZBTB8B zinc finger and BTB domain containing 8B gene DOID:630 genetic disease ISO RGD:2307066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801259 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:0060019 coronin-1A deficiency ISO RGD:1606780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11801259 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 11801259 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1606780 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 11801259 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1606780 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 11801259 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1606780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23077026|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532|PMID:30980674 11801259 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1606780 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 11801259 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:12849 autistic disorder ISO RGD:1606780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11801259 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:1882 atrial heart septal defect ISO RGD:1606780 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 11801259 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1606780 D RGD:9068941 20220826 RGD mRNA, protein:decreased expression:esophagus (human) PMID:33833989|REF_RGD_ID:153344568 11801259 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:5419 schizophrenia ISO RGD:1606780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11801259 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:630 genetic disease ISO RGD:1606780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801259 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1606780 D RGD:9068941 20220826 RGD protein:decreased expression:esophagus (human) PMID:33833989|REF_RGD_ID:153344568 11801259 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:9003268 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal ISO RGD:1606780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: lethal neurodevelopmental disorder PMID:25741868|PMID:34585832 11801259 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11801259 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1606780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11801259 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1606780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 11801259 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:9009121 lung metastasis ISO RGD:1606780 D RGD:9068941 20220826 RGD human cells in mouse model PMID:33833989|REF_RGD_ID:153344568 11801266 RAB37 RAB37, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1312361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801287 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11801287 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:0060673 Peters anomaly ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:28492532 11801287 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:0080610 anterior segment dysgenesis 5 ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 PMID:28492532 11801287 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:0111383 autosomal dominant keratitis ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant keratitis | ClinVar Annotator: match by term: Dominantly inherited keratitis | ClinVar Annotator: match by term: Keratitis, hereditary PMID:28492532 11801287 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:28492532 11801287 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:1059 intellectual disability ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11801287 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:10629 microphthalmia ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia | ClinVar Annotator: match by term: Microphthalmia PMID:28492532 11801287 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:11975 coloboma of optic nerve ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coloboma of optic nerve PMID:25741868 11801287 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:12271 aniridia ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia PMID:28492532 11801287 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:14515 WAGR syndrome ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome PMID:28492532 11801287 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:3764 Denys-Drash syndrome ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Drash syndrome PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28492532 11801287 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:5419 schizophrenia ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11801287 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:630 genetic disease ISO RGD:1352223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11801287 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:9002049 Anophthalmia ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia 11801287 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:9002455 Aniridia 1 ISO RGD:1352223 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aniridia 1 PMID:10234503|PMID:10737978|PMID:11284764|PMID:11309364|PMID:11431688|PMID:12552561|PMID:12731001|PMID:15150775|PMID:16098226|PMID:17630404|PMID:18483559|PMID:22361317|PMID:24138039|PMID:24290376|PMID:25741868|PMID:26661695|PMID:27124303|PMID:27431685|PMID:28231309|PMID:28321846|PMID:28492532|PMID:29618921|PMID:30291432|PMID:8364574 11801287 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:9003088 O'Donnell Pappas Syndrome ISO RGD:1352223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome PMID:10234503|PMID:22361317|PMID:25741868|PMID:28492532|PMID:8364574 11801287 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:9003133 Hypertelorism ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:11309364|PMID:11431688|PMID:12552561|PMID:12731001|PMID:16098226|PMID:25741868|PMID:27431685|PMID:28321846|PMID:28492532|PMID:29618921 11801287 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:9003775 Chromosome 11p Deletion Syndrome ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 11p deletion syndrome PMID:28492532 11801287 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:9003911 Aniridia 2 ISO RGD:1352223 D RGD:7240710 20190327 OMIM 11801287 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:9003911 Aniridia 2 ISO RGD:1352223 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Aniridia 2 PMID:25741868|PMID:26010655|PMID:28492532 11801287 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11801287 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:12236 primary biliary cholangitis ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:1324 lung cancer ISO RGD:1605110 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:13619 extrahepatic cholestasis ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:161 keratosis ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20404090 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:2237 hepatitis ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20404090 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:224 transient cerebral ischemia ISO RGD:733529 D RGD:9068941 20200609 RGD protein:decreased expression:brain (mouse) PMID:21075092|REF_RGD_ID:6893270 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:2797 idiopathic interstitial pneumonia ISO RGD:1605110 D RGD:9068941 20200609 RGD protein:increased expression:hyperplastic lung epithelium, alveolus (human) PMID:20718723|REF_RGD_ID:6893300 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:3121 gallbladder cancer ISO RGD:1605110 D RGD:9068941 20200609 RGD DNA:missense mutations, frameshift mutations:cds:multiple (human) PMID:18692501|REF_RGD_ID:6893398 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1605110 D RGD:9068941 20200609 RGD mRNA:increased expression:primary motor cortex (human) PMID:18957896|REF_RGD_ID:6893397 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22684020 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:4450 renal cell carcinoma ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:5199 ureteral obstruction ISO RGD:621619 D RGD:9068941 20200609 RGD protein:altered expression:kidney cortex (rat) PMID:20734248|REF_RGD_ID:5133246 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1605110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:630 genetic disease ISO RGD:1605110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1605110 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:77 gastrointestinal system disease ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20404090 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:783 end stage renal disease ISO RGD:621619 D RGD:9068941 20200609 RGD protein:increased expression:renal cortex, cytosol (rat) PMID:20007347|REF_RGD_ID:6892947 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:8947 diabetic retinopathy ISO RGD:621619 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:retina PMID:23633659|REF_RGD_ID:10412733 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18692501 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:9000918 Disease Progression ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20124447 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:1605110 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:22459801|REF_RGD_ID:6892954 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:621619 D RGD:9068941 20200609 RGD PMID:21439372|REF_RGD_ID:6893386 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052|PMID:29610475 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:9004009 Reperfusion Injury ISO RGD:621619 D RGD:9068941 20200609 RGD protein:decreased expression:left coronary artery (rat) PMID:18078953|REF_RGD_ID:6902919 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:9004009 Reperfusion Injury ISO RGD:733529 D RGD:9068941 20200609 RGD protein:decreased expression:brain, neuron, cytoplasm (mouse) PMID:21075092|REF_RGD_ID:6893270 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:9004250 Hepatic Insufficiency ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:9004484 Sepsis ISO RGD:733529 D RGD:9068941 20200609 RGD PMID:21799073|REF_RGD_ID:6892955 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:9005369 Hepatomegaly ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:9005930 Endotoxemia ISO RGD:733529 D RGD:9068941 20200609 RGD PMID:22609006|REF_RGD_ID:6892951 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733529 D RGD:9068941 20200609 RGD PMID:18417483|REF_RGD_ID:6893370 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1605110 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:22459801|REF_RGD_ID:6892954 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:9452 fatty liver disease ISO RGD:733529 D RGD:9068941 20200609 RGD PMID:22367278|REF_RGD_ID:6893372 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:9675 pulmonary emphysema ISO RGD:1605110 D RGD:9068941 20200609 RGD protein:increased expression:lung (human) PMID:18559366|REF_RGD_ID:5134973 11801305 KEAP1 kelch like ECH associated protein 1 gene DOID:9675 pulmonary emphysema onset ISO RGD:733529 D RGD:9068941 20200609 RGD PMID:19520915|REF_RGD_ID:6893395 11801322 LOC100978675 olfactory receptor 11L1 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1342706 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11801322 LOC100978675 olfactory receptor 11L1 gene DOID:1540 parathyroid carcinoma ISO RGD:1342706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11801322 LOC100978675 olfactory receptor 11L1 gene DOID:630 genetic disease ISO RGD:1342706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801322 LOC100978675 olfactory receptor 11L1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11801322 LOC100978675 olfactory receptor 11L1 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1342706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome PMID:28492532 11801322 LOC100978675 olfactory receptor 11L1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1342706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11801327 TIFA TRAF interacting protein with forkhead associated domain gene DOID:12271 aniridia ISO RGD:1606192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 11801327 TIFA TRAF interacting protein with forkhead associated domain gene DOID:630 genetic disease ISO RGD:1606192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801333 ZNF438 zinc finger protein 438 gene DOID:1909 melanoma ISO RGD:1603538 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11801333 ZNF438 zinc finger protein 438 gene DOID:630 genetic disease ISO RGD:1603538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801348 FCRLA Fc receptor like A gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1606206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 11801348 FCRLA Fc receptor like A gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1606206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11801348 FCRLA Fc receptor like A gene DOID:1540 parathyroid carcinoma ISO RGD:1606206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11801348 FCRLA Fc receptor like A gene DOID:630 genetic disease ISO RGD:1606206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801348 FCRLA Fc receptor like A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11801365 RNASEH2B ribonuclease H2 subunit B gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1606240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome PMID:16199547|PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:31130284|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33967934 11801365 RNASEH2B ribonuclease H2 subunit B gene DOID:0060041 autism spectrum disorder ISO RGD:1606240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:31130284|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33967934 11801365 RNASEH2B ribonuclease H2 subunit B gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1606240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11801365 RNASEH2B ribonuclease H2 subunit B gene DOID:1059 intellectual disability ISO RGD:1606240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11801365 RNASEH2B ribonuclease H2 subunit B gene DOID:1969 cerebral palsy ISO RGD:1606240 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:31130284|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33967934 11801365 RNASEH2B ribonuclease H2 subunit B gene DOID:630 genetic disease ISO RGD:1606240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11801365 RNASEH2B ribonuclease H2 subunit B gene DOID:893 Wilson disease ISO RGD:1606240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:28492532 11801365 RNASEH2B ribonuclease H2 subunit B gene DOID:9003907 Aicardi-Goutieres Syndrome 2 ISO RGD:1606240 D RGD:7240710 20180130 OMIM 11801365 RNASEH2B ribonuclease H2 subunit B gene DOID:9003907 Aicardi-Goutieres Syndrome 2 ISO RGD:1606240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 PMID:16199547|PMID:16845400|PMID:17576681|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:22149989|PMID:23165795|PMID:24033266|PMID:24183309|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25500883|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26633542|PMID:26846091|PMID:26860721|PMID:26903602|PMID:27009121|PMID:28332073|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30889214|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:32488064|PMID:33084218|PMID:33258288|PMID:33482855|PMID:33967934|PMID:9536098 11801365 RNASEH2B ribonuclease H2 subunit B gene DOID:9006534 Nervous System Malformations ISO RGD:1606240 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:31130284|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33967934 11801365 RNASEH2B ribonuclease H2 subunit B gene DOID:9008086 Developmental Disabilities ISO RGD:1606240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 11801379 GARIN5B golgi associated RAB2 interactor family member 5B gene DOID:630 genetic disease ISO RGD:1348410 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801395 SLC30A4 solute carrier family 30 member 4 gene DOID:0050712 AGAT deficiency ISO RGD:1343503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 11801395 SLC30A4 solute carrier family 30 member 4 gene DOID:0060496 respiratory allergy ISO RGD:1343503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085522 11801395 SLC30A4 solute carrier family 30 member 4 gene DOID:0080600 COVID-19 ISO RGD:1343503 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11801395 SLC30A4 solute carrier family 30 member 4 gene DOID:10652 Alzheimer's disease ISO RGD:1343503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16580781 11801395 SLC30A4 solute carrier family 30 member 4 gene DOID:2717 Bloom syndrome ISO RGD:1343503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11801395 SLC30A4 solute carrier family 30 member 4 gene DOID:630 genetic disease ISO RGD:1343503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801395 SLC30A4 solute carrier family 30 member 4 gene DOID:8634 prostate carcinoma in situ ISO RGD:1343503 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:12955079|REF_RGD_ID:2299948 11801395 SLC30A4 solute carrier family 30 member 4 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1343503 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:12955079|REF_RGD_ID:2299948 11801395 SLC30A4 solute carrier family 30 member 4 gene DOID:9004009 Reperfusion Injury ISO RGD:619750 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:18289514|REF_RGD_ID:2299950 11801395 SLC30A4 solute carrier family 30 member 4 gene DOID:9256 colorectal cancer ISO RGD:1343503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11801415 RAVER2 ribonucleoprotein, PTB binding 2 gene DOID:1059 intellectual disability ISO RGD:1602482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11801415 RAVER2 ribonucleoprotein, PTB binding 2 gene DOID:630 genetic disease ISO RGD:1602482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801431 NUP37 nucleoporin 37 gene DOID:630 genetic disease ISO RGD:1317159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801431 NUP37 nucleoporin 37 gene DOID:9009243 Primary Autosomal Recessive Microcephaly 24 ISO RGD:1317159 D RGD:7240710 20190315 OMIM 11801431 NUP37 nucleoporin 37 gene DOID:9009243 Primary Autosomal Recessive Microcephaly 24 ISO RGD:1317159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 24, primary, autosomal recessive PMID:25741868|PMID:30179222 11801445 SCOC short coiled-coil protein gene DOID:630 genetic disease ISO RGD:1323537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801456 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:0070253 congenital disorder of glycosylation type IIa ISO RGD:731495 D RGD:7240710 20180130 OMIM 11801456 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:0070253 congenital disorder of glycosylation type IIa ISO RGD:731495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alkuraya syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2A | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIa PMID:11228641|PMID:20684000|PMID:22105986|PMID:23806237|PMID:25558065|PMID:25741868|PMID:28492532|PMID:28742265|PMID:8808595 11801456 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:0110612 primary ciliary dyskinesia 10 ISO RGD:731495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 10 PMID:24033266|PMID:25741868|PMID:28492532 11801456 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:731495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:24033266|PMID:25741868|PMID:28492532 11801456 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:630 genetic disease ISO RGD:731495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11801456 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:9003281 Spontaneous Abortions ISO RGD:731495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11801456 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:9004324 Congenital, Hereditary, and Neonatal Diseases and Abnormalities ISO RGD:731496 D RGD:9068941 20200609 RGD PMID:11805078|REF_RGD_ID:1581206 11801456 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:731495 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11801456 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:9008086 Developmental Disabilities ISO RGD:731495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:20684000|PMID:22105986|PMID:25558065|PMID:28492532|PMID:28742265 11801456 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:9562 primary ciliary dyskinesia ISO RGD:731495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:24033266|PMID:25741868|PMID:28492532 11801462 EDAR ectodysplasin A receptor gene DOID:0050591 tooth agenesis ISO RGD:1344202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligodontia PMID:23210707 11801462 EDAR ectodysplasin A receptor gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:1344202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:10431241|PMID:18231121|PMID:20236127|PMID:20979233|PMID:25741868|PMID:28492532 11801462 EDAR ectodysplasin A receptor gene DOID:0111201 distal hereditary motor neuronopathy type 7A ISO RGD:1344202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A PMID:28492532 11801462 EDAR ectodysplasin A receptor gene DOID:0111654 ectodermal dysplasia 11B ISO RGD:1344202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive PMID:10431241|PMID:11035039|PMID:15013427|PMID:16435307|PMID:18231121|PMID:20979233|PMID:23401279|PMID:25741868|PMID:27657131|PMID:28492532 11801462 EDAR ectodysplasin A receptor gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1344202 D RGD:7240710 20180130 OMIM 11801462 EDAR ectodysplasin A receptor gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1344202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant PMID:10431241|PMID:10431242|PMID:11035039|PMID:15013427|PMID:16029325|PMID:16199547|PMID:16435307|PMID:17125505|PMID:17576681|PMID:18065779|PMID:18231121|PMID:18561327|PMID:18704500|PMID:18854857|PMID:19438931|PMID:20236127|PMID:20979233|PMID:21771270|PMID:21876339|PMID:22032522|PMID:23401279|PMID:23991204|PMID:24033266|PMID:24641098|PMID:24884697|PMID:25741868|PMID:26077850|PMID:26336973|PMID:27305980|PMID:27657131|PMID:28265457|PMID:28492532|PMID:28981473|PMID:32274043|PMID:32325225|PMID:33205897|PMID:9536098 11801462 EDAR ectodysplasin A receptor gene DOID:0111665 ectodermal dysplasia 10B ISO RGD:1344202 D RGD:7240710 20180130 OMIM 11801462 EDAR ectodysplasin A receptor gene DOID:0111665 ectodermal dysplasia 10B ISO RGD:1344202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive PMID:10431241|PMID:11279189|PMID:15373768|PMID:16435307|PMID:18065779|PMID:18231121|PMID:18561327|PMID:18704500|PMID:18816645|PMID:20236127|PMID:20979233|PMID:22032522|PMID:24033266|PMID:25741868|PMID:28492532 11801462 EDAR ectodysplasin A receptor gene DOID:10754 otitis media treatment ISO RGD:1557662 D RGD:9068941 20200609 RGD PMID:31028034|REF_RGD_ID:14398763 11801462 EDAR ectodysplasin A receptor gene DOID:13714 anodontia ISO RGD:1344202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic oligodontia PMID:10431241|PMID:17125505|PMID:18065779|PMID:18561327|PMID:18704500|PMID:24884697|PMID:25741868|PMID:26336973|PMID:27305980|PMID:28492532 11801462 EDAR ectodysplasin A receptor gene DOID:14793 hypohidrotic ectodermal dysplasia ISO RGD:1344202 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia PMID:18065779|PMID:18561327|PMID:18704500|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28808699 11801462 EDAR ectodysplasin A receptor gene DOID:2121 ectodermal dysplasia ISO RGD:1344202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Dominant PMID:16435307|PMID:18065779|PMID:18561327|PMID:18704500|PMID:18816645|PMID:23210707|PMID:24033266|PMID:25741868|PMID:28492532 11801462 EDAR ectodysplasin A receptor gene DOID:630 genetic disease ISO RGD:1344202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23401279|PMID:28492532 11801462 EDAR ectodysplasin A receptor gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1344202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ENCEPHALOPATHY, ACUTE NECROTIZING, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:28492532 11801488 HEY2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:0050451 Brugada syndrome ISO RGD:1354369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23872634 11801488 HEY2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1354369 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20001863 11801488 HEY2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:264 hemangiopericytoma ISO RGD:1354369 D RGD:9068941 20221110 RGD mRNA:increased expression:anterior temporal lobe PMID:26951238|REF_RGD_ID:155663351 11801488 HEY2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:3069 malignant astrocytoma ISO RGD:1354369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 11801488 HEY2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1354369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 11801488 HEY2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:5199 ureteral obstruction ISO RGD:1354369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 11801488 HEY2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:62 aortic valve disease ISO RGD:1553745 D RGD:9068941 20220825 MouseDO 11801488 HEY2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:630 genetic disease ISO RGD:1354369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801488 HEY2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:6419 tetralogy of Fallot ISO RGD:1553745 D RGD:9068941 20220825 MouseDO OMIM:187500 11801488 HEY2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:799 varicose veins ISO RGD:1354369 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:nucleus, vein: PMID:26808710|REF_RGD_ID:11529441 11801488 HEY2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:8947 diabetic retinopathy ISO RGD:1553745 D RGD:9068941 20221110 RGD mRNA:increased expression:retina: PMID:30787185|REF_RGD_ID:155663348 11801488 HEY2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:9006182 Carotid Artery Injuries ISO RGD:621405 D RGD:9068941 20200609 RGD PMID:11971902|REF_RGD_ID:625426 11801488 HEY2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1354369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 11801515 APOLD1 apolipoprotein L domain containing 1 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1604585 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 11801515 APOLD1 apolipoprotein L domain containing 1 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1604585 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 11801515 APOLD1 apolipoprotein L domain containing 1 gene DOID:630 genetic disease ISO RGD:1604585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801524 RHAG Rh associated glycoprotein gene DOID:0050641 Rh deficiency syndrome ISO RGD:731598 D RGD:7240710 20180130 OMIM 11801524 RHAG Rh associated glycoprotein gene DOID:0050641 Rh deficiency syndrome ISO RGD:731598 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rh-null, regulator type PMID:10467273|PMID:25741868|PMID:28492532|PMID:8563755|PMID:9442063|PMID:9454778|PMID:9746795|PMID:9915949 11801524 RHAG Rh associated glycoprotein gene DOID:0111562 overhydrated hereditary stomatocytosis ISO RGD:731598 D RGD:7240710 20180130 OMIM 11801524 RHAG Rh associated glycoprotein gene DOID:0111562 overhydrated hereditary stomatocytosis ISO RGD:731598 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Overhydrated hereditary stomatocytosis PMID:1174702|PMID:13762977|PMID:15180870|PMID:18931342|PMID:21849667|PMID:22012326|PMID:23406318|PMID:25741868|PMID:2765409|PMID:2917122|PMID:6018468 11801524 RHAG Rh associated glycoprotein gene DOID:583 hemolytic anemia ISO RGD:731598 D RGD:9068941 20200609 RGD Rh(null) syndrome, OMIM:180297 PMID:10467273|REF_RGD_ID:1599622 11801524 RHAG Rh associated glycoprotein gene DOID:630 genetic disease ISO RGD:731598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11801543 IFT57 intraflagellar transport 57 gene DOID:12858 Huntington's disease ISO RGD:1314280 D RGD:9068941 20200609 RGD protein:altered localization:cilia PMID:25989602|REF_RGD_ID:13432581 11801543 IFT57 intraflagellar transport 57 gene DOID:630 genetic disease ISO RGD:1314279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11801543 IFT57 intraflagellar transport 57 gene DOID:9006510 Orofaciodigital Syndrome XVIII ISO RGD:1314279 D RGD:7240710 20190315 OMIM 11801543 IFT57 intraflagellar transport 57 gene DOID:9006510 Orofaciodigital Syndrome XVIII ISO RGD:1314279 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome 18 PMID:25741868|PMID:27060890|PMID:28492532|PMID:32860008 11801558 ARHGAP17 Rho GTPase activating protein 17 gene DOID:630 genetic disease ISO RGD:1343283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801558 ARHGAP17 Rho GTPase activating protein 17 gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:628767 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 11801593 LOC100988876 WD repeat-containing protein 87 gene DOID:630 genetic disease ISO RGD:1602453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11801604 SLAMF7 SLAM family member 7 gene DOID:0080600 COVID-19 ISO RGD:1345987 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11801604 SLAMF7 SLAM family member 7 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1345987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11801604 SLAMF7 SLAM family member 7 gene DOID:1540 parathyroid carcinoma ISO RGD:1345987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11801604 SLAMF7 SLAM family member 7 gene DOID:630 genetic disease ISO RGD:1345987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801604 SLAMF7 SLAM family member 7 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11801628 TMEFF1 transmembrane protein with EGF like and two follistatin like domains 1 gene DOID:1059 intellectual disability ISO RGD:735335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11801628 TMEFF1 transmembrane protein with EGF like and two follistatin like domains 1 gene DOID:630 genetic disease ISO RGD:735335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801650 VSX1 visual system homeobox 1 gene DOID:0060457 posterior polymorphous corneal dystrophy ISO RGD:1313832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy PMID:11978762|PMID:15623752|PMID:16303937|PMID:16384943|PMID:18216574|PMID:18626569|PMID:19763142|PMID:21976959|PMID:22171159|PMID:23592923|PMID:24033266|PMID:25741868|PMID:26879370|PMID:28492532|PMID:7795607 11801650 VSX1 visual system homeobox 1 gene DOID:0110855 posterior polymorphous corneal dystrophy 1 ISO RGD:1313832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CORNEAL DYSTROPHY, HEREDITARY POLYMORPHOUS POSTERIOR | ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1 PMID:11978762|PMID:15623752|PMID:16303937|PMID:16384943|PMID:18216574|PMID:18626569|PMID:19763142|PMID:21976959|PMID:22171159|PMID:23592923|PMID:24033266|PMID:25741868|PMID:26879370|PMID:28492532|PMID:7795607 11801650 VSX1 visual system homeobox 1 gene DOID:10126 keratoconus ISO RGD:1313832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus PMID:23592923|PMID:24033266|PMID:28492532 11801650 VSX1 visual system homeobox 1 gene DOID:2566 corneal dystrophy ISO RGD:1313832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11978762 11801650 VSX1 visual system homeobox 1 gene DOID:2566 corneal dystrophy ISO RGD:1313832 D RGD:9068941 20200609 RGD KTCN1, OMIM:148300, PPCD1, OMIM:122000 PMID:11978762|REF_RGD_ID:1599773 11801650 VSX1 visual system homeobox 1 gene DOID:2566 corneal dystrophy ISO RGD:1313832 D RGD:9068941 20200609 RGD associated with Craniofacial Abnormalities;DNA:missense mutations:cds:p.A256S, p.R131S (human) PMID:15051220|REF_RGD_ID:8657029 11801650 VSX1 visual system homeobox 1 gene DOID:2843 long QT syndrome ISO RGD:1313832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11801650 VSX1 visual system homeobox 1 gene DOID:3642 empty sella syndrome ISO RGD:1313832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15051220 11801650 VSX1 visual system homeobox 1 gene DOID:5679 retinal disease ISO RGD:1313832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15051220 11801650 VSX1 visual system homeobox 1 gene DOID:630 genetic disease ISO RGD:1313832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801650 VSX1 visual system homeobox 1 gene DOID:9000682 Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome ISO RGD:1313832 D RGD:7240710 20180130 OMIM 11801650 VSX1 visual system homeobox 1 gene DOID:9000682 Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome ISO RGD:1313832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniofacial anomalies and anterior segment dysgenesis syndrome PMID:11978762|PMID:15051220|PMID:16303937|PMID:21976959|PMID:25741868|PMID:28492532 11801650 VSX1 visual system homeobox 1 gene DOID:9002886 Auditory Perceptual Disorders ISO RGD:1313832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15051220 11801650 VSX1 visual system homeobox 1 gene DOID:9003318 Keratoconus 1 ISO RGD:1313832 D RGD:7240710 20180130 OMIM 11801650 VSX1 visual system homeobox 1 gene DOID:9003318 Keratoconus 1 ISO RGD:1313832 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Keratoconus 1 PMID:11978762|PMID:15623752|PMID:16303937|PMID:16384943|PMID:18216574|PMID:21976959|PMID:22171159|PMID:25741868|PMID:28492532 11801650 VSX1 visual system homeobox 1 gene DOID:9003318 Keratoconus 1 no_association ISO RGD:1313832 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.D144E (human) PMID:17960127|REF_RGD_ID:8657045 11801650 VSX1 visual system homeobox 1 gene DOID:9003318 Keratoconus 1 no_association ISO RGD:1313832 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L159M, p.R166W, p.H244R (human) PMID:18216574|REF_RGD_ID:8657052 11801650 VSX1 visual system homeobox 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1313832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15051220 11801650 VSX1 visual system homeobox 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1313832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15051220 11801666 CDK7 cyclin dependent kinase 7 gene DOID:10652 Alzheimer's disease ISO RGD:734279 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:11124424|REF_RGD_ID:10059352 11801666 CDK7 cyclin dependent kinase 7 gene DOID:630 genetic disease ISO RGD:734279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801666 CDK7 cyclin dependent kinase 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11801687 AFDN afadin, adherens junction formation factor gene DOID:0060041 autism spectrum disorder ISO RGD:731514 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11801687 AFDN afadin, adherens junction formation factor gene DOID:14330 Parkinson's disease ISO RGD:731514 D RGD:9068941 20200609 RGD protein:decreased expression: caudate-putamen, substantia nigra PMID:23393160|REF_RGD_ID:13838733 11801687 AFDN afadin, adherens junction formation factor gene DOID:3459 breast carcinoma disease_progression ISO RGD:731514 D RGD:9068941 20200609 RGD PMID:16819513|REF_RGD_ID:13838725 11801687 AFDN afadin, adherens junction formation factor gene DOID:630 genetic disease ISO RGD:731514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801744 CA2 carbonic anhydrase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:737257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31209396 11801744 CA2 carbonic anhydrase 2 gene DOID:0080199 colorectal carcinoma disease_progression ISO RGD:737257 D RGD:9068941 20220916 RGD PMID:27688658|REF_RGD_ID:155226860 11801744 CA2 carbonic anhydrase 2 gene DOID:0110941 autosomal recessive osteopetrosis 3 ISO RGD:737257 D RGD:7240710 20180130 OMIM 11801744 CA2 carbonic anhydrase 2 gene DOID:0110941 autosomal recessive osteopetrosis 3 ISO RGD:737257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis PMID:12566520|PMID:1301935|PMID:15300855|PMID:1542674|PMID:18060825|PMID:1928091|PMID:25741868|PMID:28492532|PMID:4624444|PMID:5041390|PMID:7627193|PMID:8127074|PMID:8128957|PMID:8834238 11801744 CA2 carbonic anhydrase 2 gene DOID:11476 osteoporosis ISO RGD:737257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 11801744 CA2 carbonic anhydrase 2 gene DOID:13533 osteopetrosis susceptibility ISO RGD:737257 D RGD:9068941 20200609 RGD DNA:splice-site mutation PMID:1301935|REF_RGD_ID:1600698 11801744 CA2 carbonic anhydrase 2 gene DOID:299 adenocarcinoma ISO RGD:737257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 11801744 CA2 carbonic anhydrase 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 11801744 CA2 carbonic anhydrase 2 gene DOID:3883 Lynch syndrome ISO RGD:737257 D RGD:9068941 20220916 RGD protein:decreased expression:colorectum PMID:17855694|REF_RGD_ID:155226867 11801744 CA2 carbonic anhydrase 2 gene DOID:630 genetic disease ISO RGD:737257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11801744 CA2 carbonic anhydrase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:737257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11801744 CA2 carbonic anhydrase 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:737257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 11801744 CA2 carbonic anhydrase 2 gene DOID:9002315 Kidney Calculi ISO RGD:2240 D RGD:9068941 20200609 RGD PMID:10977795|REF_RGD_ID:1600710 11801744 CA2 carbonic anhydrase 2 gene DOID:9006205 Animal Disease Models ISO RGD:732618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15816485 11801744 CA2 carbonic anhydrase 2 gene DOID:9446 cholangitis ISO RGD:732618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15816485 11801755 LOC103784643 zinc finger protein 561 gene DOID:12849 autistic disorder ISO RGD:1344239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11801755 LOC103784643 zinc finger protein 561 gene DOID:630 genetic disease ISO RGD:1344239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801786 GPR62 G protein-coupled receptor 62 gene DOID:630 genetic disease ISO RGD:1351718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801818 AIRIM AFG2 interacting ribosome maturation factor gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11801818 AIRIM AFG2 interacting ribosome maturation factor gene DOID:630 genetic disease ISO RGD:1606277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801855 CPSF4 cleavage and polyadenylation specific factor 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11801855 CPSF4 cleavage and polyadenylation specific factor 4 gene DOID:630 genetic disease ISO RGD:736724 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801873 MRPL4 mitochondrial ribosomal protein L4 gene DOID:630 genetic disease ISO RGD:1323408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801886 WDR26 WD repeat domain 26 gene DOID:1059 intellectual disability ISO RGD:1348746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11801886 WDR26 WD repeat domain 26 gene DOID:1540 parathyroid carcinoma ISO RGD:1348746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11801886 WDR26 WD repeat domain 26 gene DOID:1826 epilepsy ISO RGD:1348746 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11801886 WDR26 WD repeat domain 26 gene DOID:2843 long QT syndrome ISO RGD:1348746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11801886 WDR26 WD repeat domain 26 gene DOID:630 genetic disease ISO RGD:1348746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28518168|PMID:32461654 11801886 WDR26 WD repeat domain 26 gene DOID:9006821 Skraban-Deardorff Syndrome ISO RGD:1348746 D RGD:7240710 20190315 OMIM 11801886 WDR26 WD repeat domain 26 gene DOID:9006821 Skraban-Deardorff Syndrome ISO RGD:1348746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Skraban-Deardorff syndrome PMID:25741868|PMID:25741869|PMID:28492532|PMID:28686853|PMID:36269129 11801886 WDR26 WD repeat domain 26 gene DOID:9008582 Developmental Disease ISO RGD:1348746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11801886 WDR26 WD repeat domain 26 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11801908 C1H1orf198 chromosome 1 C1orf198 homolog gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1602995 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 11801908 C1H1orf198 chromosome 1 C1orf198 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1602995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11801908 C1H1orf198 chromosome 1 C1orf198 homolog gene DOID:630 genetic disease ISO RGD:1602995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801908 C1H1orf198 chromosome 1 C1orf198 homolog gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1602995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 11801908 C1H1orf198 chromosome 1 C1orf198 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11801926 FKBP4 FKBP prolyl isomerase 4 gene DOID:4674 androgen insensitivity syndrome ISO RGD:1551632 D RGD:9068941 20220825 MouseDO OMIM:300068 11801926 FKBP4 FKBP prolyl isomerase 4 gene DOID:630 genetic disease ISO RGD:733402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801926 FKBP4 FKBP prolyl isomerase 4 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:733402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11801943 SLIRP SRA stem-loop interacting RNA binding protein gene DOID:630 genetic disease ISO RGD:1323602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801943 SLIRP SRA stem-loop interacting RNA binding protein gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1323602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial encephalomyopathy 11801951 TMX4 thioredoxin related transmembrane protein 4 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1603023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 11801951 TMX4 thioredoxin related transmembrane protein 4 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:1603023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 11801951 TMX4 thioredoxin related transmembrane protein 4 gene DOID:630 genetic disease ISO RGD:1603023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11801951 TMX4 thioredoxin related transmembrane protein 4 gene DOID:9245 Alagille syndrome ISO RGD:1603023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:28492532|PMID:32733715 11801963 UBR3 ubiquitin protein ligase E3 component n-recognin 3 gene DOID:630 genetic disease ISO RGD:1346219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802006 LOC100970098 uncharacterized protein C3orf18 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343802 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 11802006 LOC100970098 uncharacterized protein C3orf18 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343802 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 11802006 LOC100970098 uncharacterized protein C3orf18 gene DOID:630 genetic disease ISO RGD:1343802 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802027 VASN vasorin gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11802027 VASN vasorin gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1605593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 11802027 VASN vasorin gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1605593 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868 11802027 VASN vasorin gene DOID:1682 congenital heart disease ISO RGD:1605593 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Isolated Nonsyndromic Congenital Heart Disease PMID:25741868 11802027 VASN vasorin gene DOID:1826 epilepsy ISO RGD:1605593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11802027 VASN vasorin gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605593 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11802027 VASN vasorin gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1605593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 11802027 VASN vasorin gene DOID:630 genetic disease ISO RGD:1605593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802027 VASN vasorin gene DOID:684 hepatocellular carcinoma ISO RGD:1605593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25826090 11802033 BBLN bublin coiled coil protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1342591 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11802033 BBLN bublin coiled coil protein gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1342591 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11802033 BBLN bublin coiled coil protein gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1342591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11802033 BBLN bublin coiled coil protein gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1342591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 11802033 BBLN bublin coiled coil protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1342591 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11802039 FOXA1 forkhead box A1 gene DOID:0060108 brain glioma disease_progression ISO RGD:1605727 D RGD:9068941 20220331 RGD PMID:23510544|REF_RGD_ID:151665742 11802039 FOXA1 forkhead box A1 gene DOID:10534 stomach cancer ISO RGD:1605727 D RGD:9068941 20220331 RGD protein:decreased expression:stomach PMID:29129808|REF_RGD_ID:151665756 11802039 FOXA1 forkhead box A1 gene DOID:10534 stomach cancer ameliorates ISO RGD:1354161 D RGD:9068941 20220331 RGD PMID:31046116|REF_RGD_ID:151665744 11802039 FOXA1 forkhead box A1 gene DOID:10534 stomach cancer ameliorates ISO RGD:1605727 D RGD:9068941 20220331 RGD PMID:29129808|REF_RGD_ID:151665756 11802039 FOXA1 forkhead box A1 gene DOID:1324 lung cancer disease_progression ISO RGD:1322513 D RGD:9068941 20220407 RGD PMID:31221478|REF_RGD_ID:151665930 11802039 FOXA1 forkhead box A1 gene DOID:1520 colon carcinoma disease_progression ISO RGD:1605727 D RGD:9068941 20220331 RGD PMID:33296605|REF_RGD_ID:151665748 11802039 FOXA1 forkhead box A1 gene DOID:1612 breast cancer disease_progression ISO RGD:1349130 D RGD:9068941 20220407 RGD PMID:27524420|REF_RGD_ID:151665821 11802039 FOXA1 forkhead box A1 gene DOID:1749 squamous cell carcinoma ISO RGD:1605727 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32717239 11802039 FOXA1 forkhead box A1 gene DOID:234 colon adenocarcinoma ISO RGD:1605727 D RGD:9068941 20220331 RGD mRNA:decreased expression:colon PMID:32839292|REF_RGD_ID:151665753 11802039 FOXA1 forkhead box A1 gene DOID:3459 breast carcinoma ameliorates ISO RGD:1349130 D RGD:9068941 20220407 RGD PMID:27524420|REF_RGD_ID:151665821 11802039 FOXA1 forkhead box A1 gene DOID:3748 esophagus squamous cell carcinoma onset ISO RGD:1605727 D RGD:9068941 20220331 RGD PMID:29788741|REF_RGD_ID:151665759 11802039 FOXA1 forkhead box A1 gene DOID:3748 esophagus squamous cell carcinoma onset ISO RGD:1605727 D RGD:9068941 20220331 RGD DNA:SNPs: :rs12894364 C>T, rs2145146 C>A (human) PMID:27050876|REF_RGD_ID:151665743 11802039 FOXA1 forkhead box A1 gene DOID:3905 lung carcinoma ameliorates ISO RGD:1605727 D RGD:9068941 20220407 RGD PMID:31221478|REF_RGD_ID:151665930 11802039 FOXA1 forkhead box A1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605727 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32717239 11802039 FOXA1 forkhead box A1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605727 D RGD:9068941 20220331 RGD mRNA:increased expression:lung PMID:26909612|REF_RGD_ID:151665747 11802039 FOXA1 forkhead box A1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1605727 D RGD:9068941 20220407 RGD PMID:26658322|REF_RGD_ID:11554787 11802039 FOXA1 forkhead box A1 gene DOID:3910 lung adenocarcinoma ISO RGD:1605727 D RGD:9068941 20220407 RGD mRNA:increased expression:lung PMID:12234996|PMID:29072684|REF_RGD_ID:151665758|REF_RGD_ID:151665822 11802039 FOXA1 forkhead box A1 gene DOID:3910 lung adenocarcinoma ISO RGD:1605727 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34254728 11802039 FOXA1 forkhead box A1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1605727 D RGD:9068941 20220331 RGD protein:increased expression:esophagus PMID:12234996|REF_RGD_ID:151665758 11802039 FOXA1 forkhead box A1 gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:1605727 D RGD:9068941 20220331 RGD PMID:22383183|REF_RGD_ID:151665760 11802039 FOXA1 forkhead box A1 gene DOID:630 genetic disease ISO RGD:1605727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802039 FOXA1 forkhead box A1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1605727 D RGD:9068941 20220331 RGD PMID:25965836|REF_RGD_ID:11054501 11802039 FOXA1 forkhead box A1 gene DOID:684 hepatocellular carcinoma sexual_dimorphism ISO RGD:1605727 D RGD:9068941 20220407 RGD protein:decreased expression:liver PMID:29208003|REF_RGD_ID:151665820 11802039 FOXA1 forkhead box A1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1605727 D RGD:9068941 20220331 RGD DNA:VNTR, SNPs, haplotypes:multiple: PMID:31400761|REF_RGD_ID:151665752 11802039 FOXA1 forkhead box A1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1605727 D RGD:9068941 20220331 RGD associated with lung non-small cell carcinoma; mRNA:increased expression: : PMID:29115441|REF_RGD_ID:151665751 11802039 FOXA1 forkhead box A1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605727 D RGD:9068941 20200910 CTD CTD Direct Evidence: marker/mechanism PMID:22610119|PMID:26457646|PMID:29295717|PMID:29610475|PMID:32690948 11802039 FOXA1 forkhead box A1 gene DOID:9004610 Acute Lung Injury ISO RGD:2807 D RGD:9068941 20220331 RGD mRNA,protein:increased expression:lung PMID:19649697|REF_RGD_ID:151665511 11802039 FOXA1 forkhead box A1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1605727 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11802039 FOXA1 forkhead box A1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1605727 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32717239 11802039 FOXA1 forkhead box A1 gene DOID:9008138 Ductal Carcinoma ISO RGD:1605727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29295717 11802039 FOXA1 forkhead box A1 gene DOID:9008939 Breast Neoplasms ISO RGD:1605727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23001124 11802039 FOXA1 forkhead box A1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1605727 D RGD:9068941 20220331 RGD PMID:27484093|PMID:31081047|REF_RGD_ID:151665746|REF_RGD_ID:151665754 11802039 FOXA1 forkhead box A1 gene DOID:9452 fatty liver disease ISO RGD:1605727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24469900 11802045 PCOLCE2 procollagen C-endopeptidase enhancer 2 gene DOID:630 genetic disease ISO RGD:1346123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802045 PCOLCE2 procollagen C-endopeptidase enhancer 2 gene DOID:670 amphetamine abuse ISO RGD:1346123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11802058 RALGPS1 Ral GEF with PH domain and SH3 binding motif 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11802058 RALGPS1 Ral GEF with PH domain and SH3 binding motif 1 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1344179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11802058 RALGPS1 Ral GEF with PH domain and SH3 binding motif 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11802058 RALGPS1 Ral GEF with PH domain and SH3 binding motif 1 gene DOID:11054 urinary bladder cancer ISO RGD:1344179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 11802058 RALGPS1 Ral GEF with PH domain and SH3 binding motif 1 gene DOID:630 genetic disease ISO RGD:1344179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802094 RNF220 ring finger protein 220 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11802094 RNF220 ring finger protein 220 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11802094 RNF220 ring finger protein 220 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11802094 RNF220 ring finger protein 220 gene DOID:630 genetic disease ISO RGD:1605659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802094 RNF220 ring finger protein 220 gene DOID:9000978 Hypomyelinating Leukodystrophy 23 with Ataxia, Deafness, Liver Dysfunction, and Dilated Cardiomyopathy ISO RGD:1605659 D RGD:7240710 20220112 OMIM 11802094 RNF220 ring finger protein 220 gene DOID:9000978 Hypomyelinating Leukodystrophy 23 with Ataxia, Deafness, Liver Dysfunction, and Dilated Cardiomyopathy ISO RGD:1605659 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy PMID:10881263|PMID:33964137|PMID:36083980 11802128 LGALS12 galectin 12 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1315798 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11802128 LGALS12 galectin 12 gene DOID:1059 intellectual disability ISO RGD:1315798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11802128 LGALS12 galectin 12 gene DOID:630 genetic disease ISO RGD:1315798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802142 LOC100976982 solute carrier organic anion transporter family member 1B3 gene DOID:10283 prostate cancer disease_progression ISO RGD:1350750 D RGD:9068941 20220623 RGD mRNA,protein:increased expression:prostate (human) PMID:21625523|REF_RGD_ID:152995425 11802142 LOC100976982 solute carrier organic anion transporter family member 1B3 gene DOID:1324 lung cancer ISO RGD:1350750 D RGD:9068941 20220623 RGD mRNA:increased expression:lung (human) PMID:25625007|REF_RGD_ID:152995427 11802142 LOC100976982 solute carrier organic anion transporter family member 1B3 gene DOID:13580 cholestasis ISO RGD:69300 D RGD:9068941 20200611 RGD mRNA, protein:increased expression:hepatocyte PMID:17916651|REF_RGD_ID:2303109 11802142 LOC100976982 solute carrier organic anion transporter family member 1B3 gene DOID:1520 colon carcinoma ISO RGD:1350750 D RGD:9068941 20220623 RGD mRNA,protein:increased expression:colon (human) PMID:19074900|REF_RGD_ID:152995419 11802142 LOC100976982 solute carrier organic anion transporter family member 1B3 gene DOID:219 colon cancer disease_progression ISO RGD:1350750 D RGD:9068941 20220623 RGD mRNA:increased expression:colon (human) PMID:25625007|REF_RGD_ID:152995427 11802142 LOC100976982 solute carrier organic anion transporter family member 1B3 gene DOID:2394 ovarian cancer ISO RGD:1350750 D RGD:9068941 20220623 RGD mRNA:increased expression:overy (human) PMID:29577869|REF_RGD_ID:152995440 11802142 LOC100976982 solute carrier organic anion transporter family member 1B3 gene DOID:2739 Gilbert syndrome ISO RGD:1350750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gilbert syndrome 11802142 LOC100976982 solute carrier organic anion transporter family member 1B3 gene DOID:2741 bilirubin metabolic disorder ISO RGD:732053 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:18296417 11802142 LOC100976982 solute carrier organic anion transporter family member 1B3 gene DOID:2998 testicular cancer ISO RGD:1350750 D RGD:9068941 20220623 RGD mRNA:decreased expression:testis (human) PMID:21625523|REF_RGD_ID:152995425 11802142 LOC100976982 solute carrier organic anion transporter family member 1B3 gene DOID:3007 breast ductal carcinoma disease_progression ISO RGD:1350750 D RGD:9068941 20220617 RGD protein:decreased expression:breast (human) PMID:17760952|REF_RGD_ID:152995410 11802142 LOC100976982 solute carrier organic anion transporter family member 1B3 gene DOID:3571 liver cancer ISO RGD:732053 D RGD:9068941 20220623 RGD mRNA:decreased expression:liver (mouse) PMID:25319454|REF_RGD_ID:152995431 11802142 LOC100976982 solute carrier organic anion transporter family member 1B3 gene DOID:630 genetic disease ISO RGD:1350750 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11802142 LOC100976982 solute carrier organic anion transporter family member 1B3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1350750 D RGD:9068941 20220623 RGD protein:decreased expression:liver (human) PMID:21626360|REF_RGD_ID:152995417 11802142 LOC100976982 solute carrier organic anion transporter family member 1B3 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1350750 D RGD:9068941 20220623 RGD mRNA,protein:decreased expression:liver (human) PMID:32534581|REF_RGD_ID:152995423 11802142 LOC100976982 solute carrier organic anion transporter family member 1B3 gene DOID:9000722 Animal Hepatitis ISO RGD:69300 D RGD:9068941 20200611 RGD PMID:12127424|REF_RGD_ID:2303132 11802142 LOC100976982 solute carrier organic anion transporter family member 1B3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:69300 D RGD:9068941 20200611 RGD associated with Colonic Neoplasms;protein:decreased expression:liver PMID:16895976|REF_RGD_ID:2302565 11802142 LOC100976982 solute carrier organic anion transporter family member 1B3 gene DOID:9002928 Colonic Neoplasms ISO RGD:1350750 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:22326869|PMID:25625007 11802142 LOC100976982 solute carrier organic anion transporter family member 1B3 gene DOID:9004009 Reperfusion Injury ISO RGD:69300 D RGD:9068941 20200611 RGD mRNA:decreased expression:liver PMID:16858290|REF_RGD_ID:2303111 11802142 LOC100976982 solute carrier organic anion transporter family member 1B3 gene DOID:9004351 Digestive System Neoplasms severity ISO RGD:1350750 D RGD:9068941 20220623 RGD protein:increased expression:colon,rectum,pancreas (human) PMID:25611302|REF_RGD_ID:152995429 11802142 LOC100976982 solute carrier organic anion transporter family member 1B3 gene DOID:9004484 Sepsis ISO RGD:69300 D RGD:9068941 20200611 RGD mRNA:decreased expression:liver PMID:10500057|REF_RGD_ID:631887 11802142 LOC100976982 solute carrier organic anion transporter family member 1B3 gene DOID:9004486 Drug-induced Neutropenia no_association ISO RGD:1350750 D RGD:9068941 20200611 RGD associated with neoplasm;DNA:SNP: rs11045585(human) PMID:23188068|REF_RGD_ID:11080999 11802142 LOC100976982 solute carrier organic anion transporter family member 1B3 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:1350750 D RGD:9068941 20200611 RGD associated with neoplasm;DNA:SNP:rs11045585(human) PMID:18294295|REF_RGD_ID:11080980 11802142 LOC100976982 solute carrier organic anion transporter family member 1B3 gene DOID:9005094 Hereditary Hyperbilirubinemia ISO RGD:1350750 D RGD:7240710 20200610 OMIM 11802142 LOC100976982 solute carrier organic anion transporter family member 1B3 gene DOID:9005094 Hereditary Hyperbilirubinemia ISO RGD:1350750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rotor syndrome PMID:21278621|PMID:22232210|PMID:25546334|PMID:25741868|PMID:27040692|PMID:27296017|PMID:27582484|PMID:28492532|PMID:30366773|PMID:32082363 11802142 LOC100976982 solute carrier organic anion transporter family member 1B3 gene DOID:9005172 Lung Neoplasms ISO RGD:1350750 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:22326869|PMID:25625007 11802142 LOC100976982 solute carrier organic anion transporter family member 1B3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350750 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:29491222 11802142 LOC100976982 solute carrier organic anion transporter family member 1B3 gene DOID:9253 gastrointestinal stromal tumor treatment ISO RGD:1350750 D RGD:9068941 20220623 RGD DNA:SNP:: (rs4149117) (human) PMID:29054076|REF_RGD_ID:152995424 11802142 LOC100976982 solute carrier organic anion transporter family member 1B3 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1350750 D RGD:9068941 20220623 RGD protein:increased expression:colorectum (human) PMID:21677819|REF_RGD_ID:152995437 11802156 ENKD1 enkurin domain containing 1 gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:1353138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 11802156 ENKD1 enkurin domain containing 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1353138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11802156 ENKD1 enkurin domain containing 1 gene DOID:630 genetic disease ISO RGD:1353138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802170 ANKEF1 ankyrin repeat and EF-hand domain containing 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1312470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 11802170 ANKEF1 ankyrin repeat and EF-hand domain containing 1 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:1312470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 11802170 ANKEF1 ankyrin repeat and EF-hand domain containing 1 gene DOID:630 genetic disease ISO RGD:1312470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802170 ANKEF1 ankyrin repeat and EF-hand domain containing 1 gene DOID:9245 Alagille syndrome ISO RGD:1312470 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:28492532|PMID:32733715 11802187 HELB DNA helicase B gene DOID:630 genetic disease ISO RGD:1344471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802210 LCN12 lipocalin 12 gene DOID:0050777 Joubert syndrome ISO RGD:1350830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11802210 LCN12 lipocalin 12 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1350830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11802210 LCN12 lipocalin 12 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1350830 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11802210 LCN12 lipocalin 12 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1350830 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11802210 LCN12 lipocalin 12 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11802210 LCN12 lipocalin 12 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1350830 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11802210 LCN12 lipocalin 12 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1350830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 11802210 LCN12 lipocalin 12 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1350830 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11802210 LCN12 lipocalin 12 gene DOID:0081097 Rafiq syndrome ISO RGD:1350830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11802210 LCN12 lipocalin 12 gene DOID:1826 epilepsy ISO RGD:1350830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11802210 LCN12 lipocalin 12 gene DOID:3652 Leigh disease ISO RGD:1350830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11802210 LCN12 lipocalin 12 gene DOID:630 genetic disease ISO RGD:1350830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802210 LCN12 lipocalin 12 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1350830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11802220 DFFA DNA fragmentation factor subunit alpha gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11802220 DFFA DNA fragmentation factor subunit alpha gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606338 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11802220 DFFA DNA fragmentation factor subunit alpha gene DOID:0111936 immunodeficiency 14 ISO RGD:1606338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 11802220 DFFA DNA fragmentation factor subunit alpha gene DOID:630 genetic disease ISO RGD:1606338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802230 FXYD6 FXYD domain containing ion transport regulator 6 gene DOID:0060017 CD3epsilon deficiency ISO RGD:735925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 11802230 FXYD6 FXYD domain containing ion transport regulator 6 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:735925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11802230 FXYD6 FXYD domain containing ion transport regulator 6 gene DOID:0080690 RASopathy ISO RGD:735925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11802230 FXYD6 FXYD domain containing ion transport regulator 6 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:735925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 11802230 FXYD6 FXYD domain containing ion transport regulator 6 gene DOID:0111123 nephronophthisis 15 ISO RGD:735925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 11802230 FXYD6 FXYD domain containing ion transport regulator 6 gene DOID:0111971 immunodeficiency 18 ISO RGD:735925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 11802230 FXYD6 FXYD domain containing ion transport regulator 6 gene DOID:0111972 immunodeficiency 19 ISO RGD:735925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 11802230 FXYD6 FXYD domain containing ion transport regulator 6 gene DOID:0111973 immunodeficiency 17 ISO RGD:735925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 11802230 FXYD6 FXYD domain containing ion transport regulator 6 gene DOID:1059 intellectual disability ISO RGD:735925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11802230 FXYD6 FXYD domain containing ion transport regulator 6 gene DOID:10652 Alzheimer's disease ISO RGD:735925 D RGD:9068941 20200609 RGD PMID:19760337|REF_RGD_ID:13801191 11802230 FXYD6 FXYD domain containing ion transport regulator 6 gene DOID:10652 Alzheimer's disease ISO RGD:735926 D RGD:9068941 20200609 RGD PMID:19760337|REF_RGD_ID:13801191 11802230 FXYD6 FXYD domain containing ion transport regulator 6 gene DOID:630 genetic disease ISO RGD:735925 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802230 FXYD6 FXYD domain containing ion transport regulator 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11802230 FXYD6 FXYD domain containing ion transport regulator 6 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:735925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11802230 FXYD6 FXYD domain containing ion transport regulator 6 gene DOID:9007661 Dwarfism ISO RGD:735925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11802230 FXYD6 FXYD domain containing ion transport regulator 6 gene DOID:9119 acute myeloid leukemia ISO RGD:735925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11802253 MAP3K13 mitogen-activated protein kinase kinase kinase 13 gene DOID:0080375 gastroesophageal adenocarcinoma ISO RGD:1351586 D RGD:9068941 20220224 RGD PMID:33334899|REF_RGD_ID:151356972 11802253 MAP3K13 mitogen-activated protein kinase kinase kinase 13 gene DOID:0111546 Currarino syndrome ISO RGD:1351586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11802253 MAP3K13 mitogen-activated protein kinase kinase kinase 13 gene DOID:630 genetic disease ISO RGD:1351586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802276 FAM3C FAM3 metabolism regulating signaling molecule C gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11802276 FAM3C FAM3 metabolism regulating signaling molecule C gene DOID:630 genetic disease ISO RGD:1345832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802290 CEP89 centrosomal protein 89 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1605924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11802290 CEP89 centrosomal protein 89 gene DOID:630 genetic disease ISO RGD:1605924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11802290 CEP89 centrosomal protein 89 gene DOID:9266 cystinuria ISO RGD:1605924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystinuria PMID:21681106 11802311 CTDSP1 CTD small phosphatase 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1313770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11802311 CTDSP1 CTD small phosphatase 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1313770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11802311 CTDSP1 CTD small phosphatase 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1313770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11802311 CTDSP1 CTD small phosphatase 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1313770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11802311 CTDSP1 CTD small phosphatase 1 gene DOID:630 genetic disease ISO RGD:1313770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802311 CTDSP1 CTD small phosphatase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11802326 ZNF763 zinc finger protein 763 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1604484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11802326 ZNF763 zinc finger protein 763 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1604484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11802326 ZNF763 zinc finger protein 763 gene DOID:0111254 glutaric acidemia I ISO RGD:1604484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11802326 ZNF763 zinc finger protein 763 gene DOID:3413 alpha-mannosidosis ISO RGD:1604484 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11802326 ZNF763 zinc finger protein 763 gene DOID:630 genetic disease ISO RGD:1604484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802337 FCHSD2 FCH and double SH3 domains 2 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1312475 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11802337 FCHSD2 FCH and double SH3 domains 2 gene DOID:1059 intellectual disability ISO RGD:1312475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11802337 FCHSD2 FCH and double SH3 domains 2 gene DOID:630 genetic disease ISO RGD:1312475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802337 FCHSD2 FCH and double SH3 domains 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1312475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11802365 LOC100987188 NBPF member 3 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1604276 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11802365 LOC100987188 NBPF member 3 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1604276 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11802365 LOC100987188 NBPF member 3 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1604276 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11802365 LOC100987188 NBPF member 3 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1604276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11802365 LOC100987188 NBPF member 3 gene DOID:630 genetic disease ISO RGD:1604276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802365 LOC100987188 NBPF member 3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1604276 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11802384 LDHA lactate dehydrogenase A gene DOID:0050700 cardiomyopathy ISO RGD:736025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15231041 11802384 LDHA lactate dehydrogenase A gene DOID:0080108 myoglobinuria ISO RGD:736025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21332213 11802384 LDHA lactate dehydrogenase A gene DOID:0080600 COVID-19 ISO RGD:736025 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11802384 LDHA lactate dehydrogenase A gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:736025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 11802384 LDHA lactate dehydrogenase A gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:736025 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 11802384 LDHA lactate dehydrogenase A gene DOID:1059 intellectual disability ISO RGD:736025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11802384 LDHA lactate dehydrogenase A gene DOID:1062 Fanconi syndrome ISO RGD:736025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XI PMID:16199547|PMID:17576681|PMID:1953713|PMID:1959923|PMID:2334430|PMID:25741868|PMID:26838040|PMID:28492532|PMID:3092644|PMID:7603529|PMID:7944300|PMID:8327147|PMID:9536098 11802384 LDHA lactate dehydrogenase A gene DOID:1793 pancreatic cancer ISO RGD:736025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29384525 11802384 LDHA lactate dehydrogenase A gene DOID:3910 lung adenocarcinoma ISO RGD:736025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11802384 LDHA lactate dehydrogenase A gene DOID:4195 hyperglycemia ISO RGD:2996 D RGD:9068941 20200609 RGD mRNA:increased expression:beta cell PMID:12438314|REF_RGD_ID:1600277 11802384 LDHA lactate dehydrogenase A gene DOID:5844 myocardial infarction ISO RGD:736025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3279722 11802384 LDHA lactate dehydrogenase A gene DOID:630 genetic disease ISO RGD:736025 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11802384 LDHA lactate dehydrogenase A gene DOID:9002170 Experimental Neoplasms ISO RGD:2996 D RGD:9068941 20200609 RGD PMID:11085542|REF_RGD_ID:1600281 11802384 LDHA lactate dehydrogenase A gene DOID:9003665 Glycogen Storage Disease XI ISO RGD:736025 D RGD:7240710 20180130 OMIM 11802384 LDHA lactate dehydrogenase A gene DOID:9003665 Glycogen Storage Disease XI ISO RGD:736025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XI | ClinVar Annotator: match by term: Lactate dehydrogenase deficiency type A PMID:16199547|PMID:17576681|PMID:1953713|PMID:1959923|PMID:2334430|PMID:25741868|PMID:26838040|PMID:28492532|PMID:3092644|PMID:7603529|PMID:7944300|PMID:8327147|PMID:9536098 11802384 LDHA lactate dehydrogenase A gene DOID:9004590 Acute Liver Failure ISO RGD:736025 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 11802384 LDHA lactate dehydrogenase A gene DOID:9006205 Animal Disease Models ISO RGD:736025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11802401 TTC1 tetratricopeptide repeat domain 1 gene DOID:630 genetic disease ISO RGD:1345432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802415 SUPT4H1 SPT4 homolog, DSIF elongation factor subunit gene DOID:0050777 Joubert syndrome ISO RGD:1314951 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11802415 SUPT4H1 SPT4 homolog, DSIF elongation factor subunit gene DOID:1059 intellectual disability ISO RGD:1314951 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11802415 SUPT4H1 SPT4 homolog, DSIF elongation factor subunit gene DOID:630 genetic disease ISO RGD:1314951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802424 COG1 component of oligomeric golgi complex 1 gene DOID:0070259 congenital disorder of glycosylation type IIg ISO RGD:1312123 D RGD:7240710 20180130 OMIM 11802424 COG1 component of oligomeric golgi complex 1 gene DOID:0070259 congenital disorder of glycosylation type IIg ISO RGD:1312123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2G PMID:16199547|PMID:16537452|PMID:17576681|PMID:19008299|PMID:23757202|PMID:23806237|PMID:25741868|PMID:27112773|PMID:28492532|PMID:29127259|PMID:33960418|PMID:9536098 11802424 COG1 component of oligomeric golgi complex 1 gene DOID:10283 prostate cancer ISO RGD:1312123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11802424 COG1 component of oligomeric golgi complex 1 gene DOID:1184 nephrotic syndrome ISO RGD:1312123 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:19008299|PMID:25741868|PMID:29127259 11802424 COG1 component of oligomeric golgi complex 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1312123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 11802424 COG1 component of oligomeric golgi complex 1 gene DOID:630 genetic disease ISO RGD:1312123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11802424 COG1 component of oligomeric golgi complex 1 gene DOID:9006549 Enterovirus Infections ISO RGD:1312123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28446605 11802450 GADD45G growth arrest and DNA damage inducible gamma gene DOID:4783 mesangial proliferative glomerulonephritis ISO RGD:1311796 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney PMID:16736195|REF_RGD_ID:14700866 11802450 GADD45G growth arrest and DNA damage inducible gamma gene DOID:630 genetic disease ISO RGD:1323436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802458 CUTC cutC copper transporter gene DOID:3652 Leigh disease ISO RGD:1312713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome 11802458 CUTC cutC copper transporter gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1312713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease 11802458 CUTC cutC copper transporter gene DOID:630 genetic disease ISO RGD:1312713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802488 LRRC71 leucine rich repeat containing 71 gene DOID:1540 parathyroid carcinoma ISO RGD:1601719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11802488 LRRC71 leucine rich repeat containing 71 gene DOID:630 genetic disease ISO RGD:1601719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802488 LRRC71 leucine rich repeat containing 71 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11802507 KRT3 keratin 3 gene DOID:0080671 Meesmann corneal dystrophy 2 ISO RGD:1353879 D RGD:7240710 20200226 OMIM 11802507 KRT3 keratin 3 gene DOID:0080671 Meesmann corneal dystrophy 2 ISO RGD:1353879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, Meesmann, 2 PMID:16227835|PMID:18806880|PMID:25741868|PMID:9171831 11802507 KRT3 keratin 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1353879 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11802507 KRT3 keratin 3 gene DOID:630 genetic disease ISO RGD:1353879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802524 QRFP pyroglutamylated RFamide peptide gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1606909 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11802524 QRFP pyroglutamylated RFamide peptide gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1606909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 11802524 QRFP pyroglutamylated RFamide peptide gene DOID:630 genetic disease ISO RGD:1606909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802531 ZFAND2B zinc finger AN1-type containing 2B gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1602437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11802531 ZFAND2B zinc finger AN1-type containing 2B gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1602437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11802531 ZFAND2B zinc finger AN1-type containing 2B gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1602437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11802531 ZFAND2B zinc finger AN1-type containing 2B gene DOID:1148 polydactyly ISO RGD:1602437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 11802531 ZFAND2B zinc finger AN1-type containing 2B gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1602437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11802531 ZFAND2B zinc finger AN1-type containing 2B gene DOID:630 genetic disease ISO RGD:1602437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802531 ZFAND2B zinc finger AN1-type containing 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11802598 SLC38A6 solute carrier family 38 member 6 gene DOID:630 genetic disease ISO RGD:1321172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802627 SPTY2D1 SPT2 chromatin protein domain containing 1 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1603901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 11802627 SPTY2D1 SPT2 chromatin protein domain containing 1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1603901 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 11802627 SPTY2D1 SPT2 chromatin protein domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1603901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11802627 SPTY2D1 SPT2 chromatin protein domain containing 1 gene DOID:630 genetic disease ISO RGD:1603901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802633 EPGN epithelial mitogen gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1605556 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11802653 LOC100984810 putative uncharacterized protein C11orf40 gene DOID:0080773 delta beta-thalassemia ISO RGD:1605575 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11802653 LOC100984810 putative uncharacterized protein C11orf40 gene DOID:630 genetic disease ISO RGD:1605575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802659 KRBOX4 KRAB box domain containing 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1601992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11802659 KRBOX4 KRAB box domain containing 4 gene DOID:12849 autistic disorder ISO RGD:1601992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11802659 KRBOX4 KRAB box domain containing 4 gene DOID:630 genetic disease ISO RGD:1601992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802659 KRBOX4 KRAB box domain containing 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11802659 KRBOX4 KRAB box domain containing 4 gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1601992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25972376 11802727 ZNF311 zinc finger protein 311 gene DOID:11372 megacolon ISO RGD:1604963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11802727 ZNF311 zinc finger protein 311 gene DOID:630 genetic disease ISO RGD:1604963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802763 GPR141 G protein-coupled receptor 141 gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:736698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 PMID:28492532 11802763 GPR141 G protein-coupled receptor 141 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11802767 FAM228A family with sequence similarity 228 member A gene DOID:630 genetic disease ISO RGD:2303337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802794 PAK6-AS1 PAK6 antisense RNA 1 gene DOID:2717 Bloom syndrome ISO RGD:2289749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11802794 PAK6-AS1 PAK6 antisense RNA 1 gene DOID:9256 colorectal cancer ISO RGD:2289749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11802812 GPR149 G protein-coupled receptor 149 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1346454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11802812 GPR149 G protein-coupled receptor 149 gene DOID:630 genetic disease ISO RGD:1346454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802820 LRRC10 leucine rich repeat containing 10 gene DOID:0060224 atrial fibrillation ISO RGD:1348592 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 11802820 LRRC10 leucine rich repeat containing 10 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28166811|PMID:28492532 11802820 LRRC10 leucine rich repeat containing 10 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348592 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 11802820 LRRC10 leucine rich repeat containing 10 gene DOID:6000 congestive heart failure ISO RGD:1348592 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 11802820 LRRC10 leucine rich repeat containing 10 gene DOID:630 genetic disease ISO RGD:1348592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11802825 LOC100973282 olfactory receptor 2T6 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1343167 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11802825 LOC100973282 olfactory receptor 2T6 gene DOID:1540 parathyroid carcinoma ISO RGD:1343167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11802825 LOC100973282 olfactory receptor 2T6 gene DOID:630 genetic disease ISO RGD:1343167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802825 LOC100973282 olfactory receptor 2T6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11802825 LOC100973282 olfactory receptor 2T6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11802830 GNAI2 G protein subunit alpha i2 gene DOID:0050117 disease by infectious agent ISO RGD:730993 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Recurrent infections 11802830 GNAI2 G protein subunit alpha i2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:730993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 11802830 GNAI2 G protein subunit alpha i2 gene DOID:0050820 atrioventricular block ISO RGD:730993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17277016 11802830 GNAI2 G protein subunit alpha i2 gene DOID:0110887 inflammatory bowel disease 12 ISO RGD:730994 D RGD:9068941 20220825 MouseDO OMIM:612241 11802830 GNAI2 G protein subunit alpha i2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:730993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 11802830 GNAI2 G protein subunit alpha i2 gene DOID:10763 hypertension ISO RGD:620243 D RGD:9068941 20200609 RGD PMID:27912212|REF_RGD_ID:13507308 11802830 GNAI2 G protein subunit alpha i2 gene DOID:10763 hypertension treatment ISO RGD:620243 D RGD:9068941 20200609 RGD PMID:15106810|REF_RGD_ID:13508592 11802830 GNAI2 G protein subunit alpha i2 gene DOID:2999 granulosa cell tumor ISO RGD:730993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulosa cell tumor, somatic PMID:2116665 11802830 GNAI2 G protein subunit alpha i2 gene DOID:305 carcinoma ISO RGD:730993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11802830 GNAI2 G protein subunit alpha i2 gene DOID:3946 pituitary-dependent Cushing's disease ISO RGD:730993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary dependent hypercortisolism PMID:7737262 11802830 GNAI2 G protein subunit alpha i2 gene DOID:630 genetic disease ISO RGD:730993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802830 GNAI2 G protein subunit alpha i2 gene DOID:9000064 Cardiac Arrhythmias treatment ISO RGD:620243 D RGD:9068941 20200609 RGD associated with Myocardial Reperfusion Injury PMID:11941407|REF_RGD_ID:13508594 11802830 GNAI2 G protein subunit alpha i2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:730993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11802830 GNAI2 G protein subunit alpha i2 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:730993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11802830 GNAI2 G protein subunit alpha i2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11802830 GNAI2 G protein subunit alpha i2 gene DOID:9002210 Granulosa Cell Tumor of the Ovary ISO RGD:730993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulosa cell tumor of the ovary PMID:2116665 11802830 GNAI2 G protein subunit alpha i2 gene DOID:9002365 Ovarian Granulosa Cell Tumor ISO RGD:730993 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ovarian granulosa cell tumor PMID:2116665 11802830 GNAI2 G protein subunit alpha i2 gene DOID:9004009 Reperfusion Injury ISO RGD:620243 D RGD:9068941 20200609 RGD PMID:11367746|REF_RGD_ID:13513922 11802830 GNAI2 G protein subunit alpha i2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:730993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 11802830 GNAI2 G protein subunit alpha i2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:730993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia, somatic PMID:9637720 11802830 GNAI2 G protein subunit alpha i2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11802830 GNAI2 G protein subunit alpha i2 gene DOID:9005582 Adrenal Cortex Neoplasms ISO RGD:730993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortical tumor, somatic PMID:2116665 11802830 GNAI2 G protein subunit alpha i2 gene DOID:9007001 Bradycardia ISO RGD:730993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17277016 11802830 GNAI2 G protein subunit alpha i2 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:730993 D RGD:7240710 20180130 OMIM 11802830 GNAI2 G protein subunit alpha i2 gene DOID:9007661 Dwarfism ISO RGD:730993 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Short stature 11802830 GNAI2 G protein subunit alpha i2 gene DOID:9007671 Familial Isolated Pituitary Adenoma ISO RGD:730993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial isolated pituitary adenoma PMID:25741868 11802830 GNAI2 G protein subunit alpha i2 gene DOID:9008813 Thecoma ISO RGD:730993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thecoma, somatic PMID:2116665 11802830 GNAI2 G protein subunit alpha i2 gene DOID:9008939 Breast Neoplasms ISO RGD:730993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 11802830 GNAI2 G protein subunit alpha i2 gene DOID:9406 hypopituitarism ISO RGD:730993 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypopituitarism 11802830 GNAI2 G protein subunit alpha i2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:730993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11802862 LOC100976728 interferon-induced protein with tetratricopeptide repeats 1 gene DOID:14497 Wolman disease ISO RGD:1312562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wolman disease PMID:28492532 11802862 LOC100976728 interferon-induced protein with tetratricopeptide repeats 1 gene DOID:289 endometriosis ISO RGD:1312562 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11802862 LOC100976728 interferon-induced protein with tetratricopeptide repeats 1 gene DOID:630 genetic disease ISO RGD:1312562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802862 LOC100976728 interferon-induced protein with tetratricopeptide repeats 1 gene DOID:9001488 Human Influenza ISO RGD:1312562 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11802873 ATP10B ATPase phospholipid transporting 10B (putative) gene DOID:13938 amenorrhea ISO RGD:1345428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11802873 ATP10B ATPase phospholipid transporting 10B (putative) gene DOID:630 genetic disease ISO RGD:1345428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802905 TNPO2 transportin 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1321214 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11802905 TNPO2 transportin 2 gene DOID:0081262 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies ISO RGD:1321214 D RGD:7240710 20211215 OMIM 11802905 TNPO2 transportin 2 gene DOID:0081262 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies ISO RGD:1321214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | ClinVar Annotator: match by term: TNPO2-related condition PMID:25741868|PMID:34314705 11802905 TNPO2 transportin 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1321214 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11802905 TNPO2 transportin 2 gene DOID:0111254 glutaric acidemia I ISO RGD:1321214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11802905 TNPO2 transportin 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1321214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11802905 TNPO2 transportin 2 gene DOID:3413 alpha-mannosidosis ISO RGD:1321214 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11802905 TNPO2 transportin 2 gene DOID:630 genetic disease ISO RGD:1321214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802948 ASCL1 achaete-scute family bHLH transcription factor 1 gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:736393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital central hypoventilation PMID:14532329 11802948 ASCL1 achaete-scute family bHLH transcription factor 1 gene DOID:1059 intellectual disability ISO RGD:736393 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11802948 ASCL1 achaete-scute family bHLH transcription factor 1 gene DOID:1824 status epilepticus ISO RGD:71010 D RGD:9068941 20200609 RGD PMID:11564418|REF_RGD_ID:2314147 11802948 ASCL1 achaete-scute family bHLH transcription factor 1 gene DOID:5409 lung small cell carcinoma ISO RGD:736393 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26253517 11802948 ASCL1 achaete-scute family bHLH transcription factor 1 gene DOID:630 genetic disease ISO RGD:736393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802948 ASCL1 achaete-scute family bHLH transcription factor 1 gene DOID:863 nervous system disease ISO RGD:736393 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23203475 11802948 ASCL1 achaete-scute family bHLH transcription factor 1 gene DOID:9000270 Congenital Central Hypoventilation Syndrome 1 ISO RGD:736393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Haddad syndrome PMID:14532329 11802948 ASCL1 achaete-scute family bHLH transcription factor 1 gene DOID:9002221 Hyperplasia ISO RGD:71010 D RGD:9068941 20200609 RGD PMID:12555267|REF_RGD_ID:704377 11802948 ASCL1 achaete-scute family bHLH transcription factor 1 gene DOID:9004610 Acute Lung Injury ISO RGD:736393 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20554700 11802948 ASCL1 achaete-scute family bHLH transcription factor 1 gene DOID:9007096 Stroke ISO RGD:71010 D RGD:9068941 20200609 RGD PMID:16730914|REF_RGD_ID:2314146 11802948 ASCL1 achaete-scute family bHLH transcription factor 1 gene DOID:9281 phenylketonuria ISO RGD:736393 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Phenylketonuria PMID:28492532 11802954 SEMA6A semaphorin 6A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313551 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11802954 SEMA6A semaphorin 6A gene DOID:12849 autistic disorder ISO RGD:1313551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11802954 SEMA6A semaphorin 6A gene DOID:630 genetic disease ISO RGD:1313551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802954 SEMA6A semaphorin 6A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11802954 SEMA6A semaphorin 6A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313551 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11802990 ELOVL3 ELOVL fatty acid elongase 3 gene DOID:630 genetic disease ISO RGD:1316352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802998 ZNF446 zinc finger protein 446 gene DOID:630 genetic disease ISO RGD:1351503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11802998 ZNF446 zinc finger protein 446 gene DOID:9002189 High Myopia ISO RGD:1351503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11802998 ZNF446 zinc finger protein 446 gene DOID:9007661 Dwarfism ISO RGD:1351503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11803027 INO80C INO80 complex subunit C gene DOID:1059 intellectual disability ISO RGD:1320959 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11803027 INO80C INO80 complex subunit C gene DOID:630 genetic disease ISO RGD:1320959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803046 EPHA2 EPH receptor A2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1316258 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11803046 EPHA2 EPH receptor A2 gene DOID:0110229 cataract 6 multiple types ISO RGD:1316258 D RGD:7240710 20180130 OMIM 11803046 EPHA2 EPH receptor A2 gene DOID:0110229 cataract 6 multiple types ISO RGD:1316258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Age-related cortical cataract | ClinVar Annotator: match by term: Cataract 6 multiple types | ClinVar Annotator: match by term: Cataract 6, age-related cortical PMID:12167657|PMID:15965161|PMID:16051609|PMID:17576681|PMID:19005574|PMID:19306328|PMID:19649315|PMID:20360610|PMID:20361013|PMID:20625407|PMID:22167091|PMID:22570727|PMID:22645087|PMID:22829731|PMID:23447127|PMID:24014202|PMID:24705208|PMID:24968223|PMID:25148791|PMID:25741868|PMID:26900323|PMID:27315345|PMID:28492532|PMID:29770612|PMID:9536098 11803046 EPHA2 EPH receptor A2 gene DOID:13574 cortical senile cataract ISO RGD:1316258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cortical senile cataract PMID:19649315|PMID:20625407|PMID:22645087|PMID:22829731|PMID:23447127|PMID:24705208 11803046 EPHA2 EPH receptor A2 gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:1316258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22845314 11803046 EPHA2 EPH receptor A2 gene DOID:14566 disease of cellular proliferation ISO RGD:1316258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21479221 11803046 EPHA2 EPH receptor A2 gene DOID:3490 Noonan syndrome ISO RGD:1316258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22845314 11803046 EPHA2 EPH receptor A2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1316258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:20360610|PMID:25741868|PMID:28492532 11803046 EPHA2 EPH receptor A2 gene DOID:630 genetic disease ISO RGD:1316258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803046 EPHA2 EPH receptor A2 gene DOID:83 cataract ISO RGD:1316258 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:26694549 11803046 EPHA2 EPH receptor A2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1316258 D RGD:9068941 20220826 RGD protein:increased expression:esophagus (human) PMID:33833989|REF_RGD_ID:153344568 11803046 EPHA2 EPH receptor A2 gene DOID:9000918 Disease Progression ISO RGD:1316258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21479221 11803046 EPHA2 EPH receptor A2 gene DOID:9004009 Reperfusion Injury ISO RGD:1307204 D RGD:9068941 20200609 RGD PMID:16735461|REF_RGD_ID:1580976 11803046 EPHA2 EPH receptor A2 gene DOID:9007748 Retinal Neovascularization ISO RGD:1307204 D RGD:9068941 20200609 RGD PMID:16359662|REF_RGD_ID:1580975 11803046 EPHA2 EPH receptor A2 gene DOID:9007748 Retinal Neovascularization ISO RGD:1316259 D RGD:9068941 20200609 RGD PMID:16359662|REF_RGD_ID:1580975 11803067 TCEAL8 transcription elongation factor A like 8 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11803067 TCEAL8 transcription elongation factor A like 8 gene DOID:12849 autistic disorder ISO RGD:1352350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11803067 TCEAL8 transcription elongation factor A like 8 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1352350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:31690835 11803067 TCEAL8 transcription elongation factor A like 8 gene DOID:630 genetic disease ISO RGD:1352350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803075 OVOL1 ovo like transcriptional repressor 1 gene DOID:1059 intellectual disability ISO RGD:1315865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11803075 OVOL1 ovo like transcriptional repressor 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1315865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11803075 OVOL1 ovo like transcriptional repressor 1 gene DOID:2746 glycogen storage disease V ISO RGD:1315865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11803075 OVOL1 ovo like transcriptional repressor 1 gene DOID:3310 atopic dermatitis ISO RGD:1315865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23042114 11803075 OVOL1 ovo like transcriptional repressor 1 gene DOID:5374 pilomatrixoma ISO RGD:1315865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26873447 11803075 OVOL1 ovo like transcriptional repressor 1 gene DOID:630 genetic disease ISO RGD:1315865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803075 OVOL1 ovo like transcriptional repressor 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1315865 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11803075 OVOL1 ovo like transcriptional repressor 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1315865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 11803094 ITGB1BP1 integrin subunit beta 1 binding protein 1 gene DOID:0080006 bone development disease ISO RGD:1317220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17567669 11803094 ITGB1BP1 integrin subunit beta 1 binding protein 1 gene DOID:630 genetic disease ISO RGD:1317220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803094 ITGB1BP1 integrin subunit beta 1 binding protein 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1317220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17567669 11803118 TMEM255B transmembrane protein 255B gene DOID:2222 factor X deficiency ISO RGD:1602045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 11803118 TMEM255B transmembrane protein 255B gene DOID:630 genetic disease ISO RGD:1602045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803130 SFXN2 sideroflexin 2 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1314569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:12068298|PMID:22508808|PMID:25403219|PMID:28492532|PMID:31639285 11803130 SFXN2 sideroflexin 2 gene DOID:630 genetic disease ISO RGD:1314569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803153 TRPS1 transcriptional repressor GATA binding 1 gene DOID:0050581 brachydactyly ISO RGD:1323571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:11112658|PMID:18946009|PMID:24502542|PMID:25741868|PMID:25792522|PMID:28468609|PMID:28492532|PMID:30541476 11803153 TRPS1 transcriptional repressor GATA binding 1 gene DOID:0080006 bone development disease ISO RGD:1323571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19759027 11803153 TRPS1 transcriptional repressor GATA binding 1 gene DOID:0080205 CAKUT ISO RGD:1323571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:11112658|PMID:11950061|PMID:18946009|PMID:24502542|PMID:25792522|PMID:28492532|PMID:30143558|PMID:30541476 11803153 TRPS1 transcriptional repressor GATA binding 1 gene DOID:0080376 trichorhinophalangeal syndrome type III ISO RGD:1323571 D RGD:7240710 20180130 OMIM 11803153 TRPS1 transcriptional repressor GATA binding 1 gene DOID:0080376 trichorhinophalangeal syndrome type III ISO RGD:1323571 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III PMID:10615131|PMID:11112658|PMID:11807863|PMID:11950061|PMID:14560312|PMID:15367484|PMID:16199547|PMID:17576681|PMID:17854380|PMID:18946009|PMID:19694891|PMID:20394624|PMID:21850686|PMID:22964620|PMID:23293878|PMID:23451857|PMID:23572024|PMID:23621477|PMID:23691375|PMID:24357341|PMID:24502542|PMID:24945424|PMID:25741868|PMID:25792522|PMID:26113321|PMID:27826100|PMID:28050602|PMID:28170084|PMID:28244134|PMID:28468609|PMID:28492532|PMID:29499646|PMID:30143558|PMID:30458885|PMID:30541476|PMID:30914275|PMID:31884116|PMID:32844440|PMID:9536098 11803153 TRPS1 transcriptional repressor GATA binding 1 gene DOID:10907 microcephaly ISO RGD:1323571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11803153 TRPS1 transcriptional repressor GATA binding 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1323571 D RGD:7240710 20180130 OMIM 11803153 TRPS1 transcriptional repressor GATA binding 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1323571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:10615131|PMID:11112658|PMID:11359471|PMID:11807863|PMID:11950061|PMID:14560312|PMID:17854380|PMID:18946009|PMID:19694891|PMID:22964620|PMID:23451857|PMID:23621477|PMID:24357341|PMID:24502542|PMID:25741868|PMID:25792522|PMID:26380986|PMID:27826100|PMID:28050602|PMID:28170084|PMID:28244134|PMID:28468609|PMID:28492532|PMID:30143558|PMID:30541476|PMID:30914275|PMID:31884116 11803153 TRPS1 transcriptional repressor GATA binding 1 gene DOID:2256 osteochondrodysplasia ISO RGD:1323571 D RGD:9068941 20200609 RGD trichorhinophalangeal syndrome type I, OMIM:190350 PMID:10615131|REF_RGD_ID:1599670 11803153 TRPS1 transcriptional repressor GATA binding 1 gene DOID:305 carcinoma ISO RGD:1323571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11803153 TRPS1 transcriptional repressor GATA binding 1 gene DOID:4998 trichorhinophalangeal syndrome type II ISO RGD:1323571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Langer-Giedion syndrome PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532 11803153 TRPS1 transcriptional repressor GATA binding 1 gene DOID:630 genetic disease ISO RGD:1323571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25792522|PMID:26113321|PMID:28004029|PMID:28492532 11803153 TRPS1 transcriptional repressor GATA binding 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1323571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11803153 TRPS1 transcriptional repressor GATA binding 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1323571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11803153 TRPS1 transcriptional repressor GATA binding 1 gene DOID:9005517 Trichorhinophalangeal Syndrome ISO RGD:1323571 D RGD:8554872 20230103 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal syndrome | ClinVar Annotator: match by term: Trichorhinophalangeal syndrome type I or III PMID:25333908|PMID:25741868|PMID:28492532|PMID:29095814 11803153 TRPS1 transcriptional repressor GATA binding 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1323571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome 11803153 TRPS1 transcriptional repressor GATA binding 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1323571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11708946|PMID:19759027 11803164 PTGDR2 prostaglandin D2 receptor 2 gene DOID:0080600 COVID-19 ISO RGD:1323730 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11803164 PTGDR2 prostaglandin D2 receptor 2 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1323730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 11803164 PTGDR2 prostaglandin D2 receptor 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1323730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11803164 PTGDR2 prostaglandin D2 receptor 2 gene DOID:1059 intellectual disability ISO RGD:1323730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11803164 PTGDR2 prostaglandin D2 receptor 2 gene DOID:1485 cystic fibrosis ISO RGD:1323730 D RGD:9068941 20200609 RGD PMID:18334635|REF_RGD_ID:5135022 11803164 PTGDR2 prostaglandin D2 receptor 2 gene DOID:2841 asthma ISO RGD:1323730 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27103662 11803164 PTGDR2 prostaglandin D2 receptor 2 gene DOID:2841 asthma ISO RGD:1323730 D RGD:9068941 20200609 RGD PMID:19392992|REF_RGD_ID:5135019 11803164 PTGDR2 prostaglandin D2 receptor 2 gene DOID:2841 asthma ISO RGD:1323730 D RGD:9068941 20200609 RGD Aspirin exacerbated asthma PMID:19796209|REF_RGD_ID:5135020 11803164 PTGDR2 prostaglandin D2 receptor 2 gene DOID:2841 asthma ISO RGD:1323731 D RGD:9068941 20200609 RGD PMID:18757520|REF_RGD_ID:5135018 11803164 PTGDR2 prostaglandin D2 receptor 2 gene DOID:4483 rhinitis ISO RGD:1323730 D RGD:9068941 20200609 RGD PMID:19230460|REF_RGD_ID:5135021 11803164 PTGDR2 prostaglandin D2 receptor 2 gene DOID:4483 rhinitis ISO RGD:1323731 D RGD:9068941 20200609 RGD PMID:19608418|REF_RGD_ID:5135017 11803164 PTGDR2 prostaglandin D2 receptor 2 gene DOID:630 genetic disease ISO RGD:1323730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803164 PTGDR2 prostaglandin D2 receptor 2 gene DOID:9005372 Inflammation ISO RGD:1323731 D RGD:9068941 20200609 RGD PMID:21646789|REF_RGD_ID:5135015 11803169 CEP55 centrosomal protein 55 gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:1313311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:24206907|PMID:28492532 11803169 CEP55 centrosomal protein 55 gene DOID:0070347 encephalopathy due to defective mitochondrial and peroxisomal fission 1 ISO RGD:1313311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 PMID:25741868 11803169 CEP55 centrosomal protein 55 gene DOID:0080327 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly ISO RGD:1313311 D RGD:7240710 20190315 OMIM 11803169 CEP55 centrosomal protein 55 gene DOID:0080600 COVID-19 ISO RGD:1313311 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11803169 CEP55 centrosomal protein 55 gene DOID:11612 polycystic ovary syndrome ISO RGD:1313311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11803169 CEP55 centrosomal protein 55 gene DOID:630 genetic disease ISO RGD:1313311 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16198290|PMID:25741868|PMID:28264986|PMID:28295209|PMID:28492532|PMID:30622327|PMID:32100459 11803169 CEP55 centrosomal protein 55 gene DOID:684 hepatocellular carcinoma ISO RGD:1313311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11803169 CEP55 centrosomal protein 55 gene DOID:893 Wilson disease ISO RGD:1313311 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hepatolenticular degeneration PMID:25741868|PMID:28264986|PMID:28295209|PMID:28492532|PMID:30622327|PMID:32100459 11803169 CEP55 centrosomal protein 55 gene DOID:9001099 Hydranencephaly with Renal Aplasia-Dysplasia ISO RGD:1313311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydranencephaly with renal aplasia-dysplasia PMID:25741868|PMID:28264986|PMID:28295209|PMID:28492532|PMID:30622327|PMID:32100459 11803187 DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1312206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11803187 DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease gene DOID:0060476 Perlman syndrome ISO RGD:1312206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:25741868 11803187 DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease gene DOID:630 genetic disease ISO RGD:1312206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803187 DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease gene DOID:9538 multiple myeloma ISO RGD:1312206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11803214 LOC100991256 leukocyte immunoglobulin-like receptor subfamily B member 3 gene DOID:630 genetic disease ISO RGD:1316283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803250 SAT1 spermidine/spermine N1-acetyltransferase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11803250 SAT1 spermidine/spermine N1-acetyltransferase 1 gene DOID:0080600 COVID-19 ISO RGD:1346323 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11803250 SAT1 spermidine/spermine N1-acetyltransferase 1 gene DOID:0080600 COVID-19 ISO RGD:1346323 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 11803250 SAT1 spermidine/spermine N1-acetyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:1346323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11803250 SAT1 spermidine/spermine N1-acetyltransferase 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1346323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 11803250 SAT1 spermidine/spermine N1-acetyltransferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11803250 SAT1 spermidine/spermine N1-acetyltransferase 1 gene DOID:9970 obesity ISO RGD:1346323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 11803263 OGFRL1 opioid growth factor receptor like 1 gene DOID:630 genetic disease ISO RGD:1318300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803274 MRPS30 mitochondrial ribosomal protein S30 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1320179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11803274 MRPS30 mitochondrial ribosomal protein S30 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1320179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11803274 MRPS30 mitochondrial ribosomal protein S30 gene DOID:630 genetic disease ISO RGD:1320179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803274 MRPS30 mitochondrial ribosomal protein S30 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11803290 MYOG myogenin gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:736712 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11803290 MYOG myogenin gene DOID:1540 parathyroid carcinoma ISO RGD:736712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11803290 MYOG myogenin gene DOID:630 genetic disease ISO RGD:736712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803290 MYOG myogenin gene DOID:9002457 Experimental Arthritis treatment ISO RGD:620432 D RGD:9068941 20200609 RGD PMID:23781298|REF_RGD_ID:9686078 11803290 MYOG myogenin gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736712 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11803290 MYOG myogenin gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:620432 D RGD:9068941 20200609 RGD PMID:1312030|REF_RGD_ID:9686077 11803290 MYOG myogenin gene DOID:9008444 Skeletal Muscle Injuries ISO RGD:620432 D RGD:9068941 20200609 RGD mRNA:increased expression:diaphragm PMID:15738284|REF_RGD_ID:9686134 11803290 MYOG myogenin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11803290 MYOG myogenin gene DOID:9970 obesity ISO RGD:620432 D RGD:9068941 20200609 RGD mRNA:decreased expression:plantaris PMID:18508911|REF_RGD_ID:2313320 11803297 BTF3L4 basic transcription factor 3 like 4 gene DOID:630 genetic disease ISO RGD:1605903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803319 ATP11C ATPase phospholipid transporting 11C gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11803319 ATP11C ATPase phospholipid transporting 11C gene DOID:0111846 X-linked congenital hemolytic anemia ISO RGD:1351598 D RGD:7240710 20190315 OMIM 11803319 ATP11C ATPase phospholipid transporting 11C gene DOID:0111846 X-linked congenital hemolytic anemia ISO RGD:1351598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked congenital hemolytic anemia PMID:25741868|PMID:26944472 11803319 ATP11C ATPase phospholipid transporting 11C gene DOID:12259 hemophilia B ISO RGD:1351598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary factor IX deficiency disease PMID:2198809|PMID:24375831|PMID:28492532|PMID:3029178|PMID:4045960|PMID:8304338 11803319 ATP11C ATPase phospholipid transporting 11C gene DOID:12849 autistic disorder ISO RGD:1351598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11803319 ATP11C ATPase phospholipid transporting 11C gene DOID:630 genetic disease ISO RGD:1351598 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11803359 ZFP82 ZFP82 zinc finger protein gene DOID:630 genetic disease ISO RGD:1345340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803404 CD47 CD47 molecule gene DOID:3312 bipolar disorder ISO RGD:737350 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 11803404 CD47 CD47 molecule gene DOID:630 genetic disease ISO RGD:737350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803426 MAP3K12 mitogen-activated protein kinase kinase kinase 12 gene DOID:630 genetic disease ISO RGD:737536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803426 MAP3K12 mitogen-activated protein kinase kinase kinase 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11803458 GFRA2 GDNF family receptor alpha 2 gene DOID:0080855 Parkinsonism ISO RGD:61809 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:12210101|REF_RGD_ID:6218972 11803458 GFRA2 GDNF family receptor alpha 2 gene DOID:630 genetic disease ISO RGD:732295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803458 GFRA2 GDNF family receptor alpha 2 gene DOID:9008091 Optic Nerve Injuries ISO RGD:61809 D RGD:9068941 20200609 RGD PMID:15144875|REF_RGD_ID:6218970 11803471 SAMD12 sterile alpha motif domain containing 12 gene DOID:0111690 familial adult myoclonic epilepsy 1 ISO RGD:1344782 D RGD:7240710 20190315 OMIM 11803471 SAMD12 sterile alpha motif domain containing 12 gene DOID:0111690 familial adult myoclonic epilepsy 1 ISO RGD:1344782 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 1 11803471 SAMD12 sterile alpha motif domain containing 12 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1344782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11803471 SAMD12 sterile alpha motif domain containing 12 gene DOID:206 hereditary multiple exostoses ISO RGD:1344782 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 11803471 SAMD12 sterile alpha motif domain containing 12 gene DOID:630 genetic disease ISO RGD:1344782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803471 SAMD12 sterile alpha motif domain containing 12 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1344782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29507423 11803485 TMEM170B transmembrane protein 170B gene DOID:630 genetic disease ISO RGD:2293893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803492 SRRM3 serine/arginine repetitive matrix 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11803492 SRRM3 serine/arginine repetitive matrix 3 gene DOID:630 genetic disease ISO RGD:1601811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803492 SRRM3 serine/arginine repetitive matrix 3 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1601811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 11803513 HAO1 hydroxyacid oxidase 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1353845 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 11803513 HAO1 hydroxyacid oxidase 1 gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:1353845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis PMID:24886237 11803513 HAO1 hydroxyacid oxidase 1 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:1353845 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 11803513 HAO1 hydroxyacid oxidase 1 gene DOID:585 nephrolithiasis ISO RGD:1353845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis | ClinVar Annotator: match by term: Calcium oxalate urolithiasis PMID:24886237 11803513 HAO1 hydroxyacid oxidase 1 gene DOID:630 genetic disease ISO RGD:1353845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803513 HAO1 hydroxyacid oxidase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11803513 HAO1 hydroxyacid oxidase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11803513 HAO1 hydroxyacid oxidase 1 gene DOID:9245 Alagille syndrome ISO RGD:1353845 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:28492532|PMID:32733715 11803532 RNF4 ring finger protein 4 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:737478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 11803532 RNF4 ring finger protein 4 gene DOID:1856 cherubism ISO RGD:737478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11803532 RNF4 ring finger protein 4 gene DOID:1932 Angelman syndrome ISO RGD:737478 D RGD:9068941 20200609 RGD mRNA:increased expression:blood (human) PMID:15014980|REF_RGD_ID:9831454 11803532 RNF4 ring finger protein 4 gene DOID:630 genetic disease ISO RGD:737478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803532 RNF4 ring finger protein 4 gene DOID:9004207 Testicular Neoplasms ISO RGD:737478 D RGD:9068941 20200609 RGD mRNA:decreased expression:testes (human) PMID:14644130|REF_RGD_ID:9831408 11803547 LOC100968816 olfactory receptor 1L6 gene DOID:630 genetic disease ISO RGD:1344733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803550 LOC100968989 HLA class II histocompatibility antigen, DM alpha chain gene DOID:0050553 JMP syndrome ISO RGD:1346716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11803550 LOC100968989 HLA class II histocompatibility antigen, DM alpha chain gene DOID:13241 Behcet's disease no_association ISO RGD:1346716 D RGD:9068941 20200609 RGD PMID:10375868|REF_RGD_ID:1582700 11803550 LOC100968989 HLA class II histocompatibility antigen, DM alpha chain gene DOID:2773 contact dermatitis ISO RGD:1346716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18348411 11803550 LOC100968989 HLA class II histocompatibility antigen, DM alpha chain gene DOID:4404 occupational dermatitis ISO RGD:1346716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16737583 11803569 SPRR2B small proline rich protein 2B gene DOID:0111940 immunodeficiency 42 ISO RGD:1348618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11803569 SPRR2B small proline rich protein 2B gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1348618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11803569 SPRR2B small proline rich protein 2B gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1348618 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11803569 SPRR2B small proline rich protein 2B gene DOID:1540 parathyroid carcinoma ISO RGD:1348618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11803569 SPRR2B small proline rich protein 2B gene DOID:2841 asthma ISO RGD:1348618 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:21912604 11803569 SPRR2B small proline rich protein 2B gene DOID:5812 MHC class II deficiency ISO RGD:1348618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11803569 SPRR2B small proline rich protein 2B gene DOID:630 genetic disease ISO RGD:1348618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803569 SPRR2B small proline rich protein 2B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11803586 KHDRBS2 KH RNA binding domain containing, signal transduction associated 2 gene DOID:1909 melanoma ISO RGD:1349535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 11803586 KHDRBS2 KH RNA binding domain containing, signal transduction associated 2 gene DOID:630 genetic disease ISO RGD:1349535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803615 TSLP thymic stromal lymphopoietin gene DOID:0050211 swine influenza treatment ISO RGD:1621562 D RGD:9068941 20200903 RGD PMID:32060507|REF_RGD_ID:38549590 11803615 TSLP thymic stromal lymphopoietin gene DOID:0060496 respiratory allergy ISO RGD:1604556 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28329851 11803615 TSLP thymic stromal lymphopoietin gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604556 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11803615 TSLP thymic stromal lymphopoietin gene DOID:10112 sleeping sickness susceptibility ISO RGD:1621562 D RGD:9068941 20200903 RGD protein:increased expression:serum (mouse) PMID:28769924|REF_RGD_ID:38549587 11803615 TSLP thymic stromal lymphopoietin gene DOID:10459 common cold ISO RGD:1604556 D RGD:9068941 20200904 RGD protein:increased expression:nasal mucus (human) PMID:28471975|REF_RGD_ID:38596342 11803615 TSLP thymic stromal lymphopoietin gene DOID:10976 membranous glomerulonephritis treatment ISO RGD:1621562 D RGD:9068941 20200903 RGD PMID:11920357|REF_RGD_ID:38549592 11803615 TSLP thymic stromal lymphopoietin gene DOID:12365 malaria ISO RGD:1621562 D RGD:9068941 20200904 RGD mRNA:altered expression:multiple (mouse) PMID:28955823|REF_RGD_ID:38596344 11803615 TSLP thymic stromal lymphopoietin gene DOID:1252 trichuriasis susceptibility ISO RGD:1621562 D RGD:9068941 20200903 RGD PMID:19273626|REF_RGD_ID:38549593 11803615 TSLP thymic stromal lymphopoietin gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1604556 D RGD:9068941 20200904 RGD protein:increased expression:nasal mucus (human) PMID:28471975|REF_RGD_ID:38596342 11803615 TSLP thymic stromal lymphopoietin gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1621562 D RGD:9068941 20200903 RGD PMID:27156176|REF_RGD_ID:38549376 11803615 TSLP thymic stromal lymphopoietin gene DOID:1273 respiratory syncytial virus infectious disease sexual_dimorphism ISO RGD:1621562 D RGD:9068941 20200910 RGD mRNA:increased expression:lung (mouse) PMID:31076663|REF_RGD_ID:38596346 11803615 TSLP thymic stromal lymphopoietin gene DOID:13922 eosinophilic esophagitis ISO RGD:1604556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20208534 11803615 TSLP thymic stromal lymphopoietin gene DOID:2841 asthma ISO RGD:1604556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21804549 11803615 TSLP thymic stromal lymphopoietin gene DOID:2917 cryoglobulinemia ISO RGD:1621562 D RGD:9068941 20220825 MouseDO 11803615 TSLP thymic stromal lymphopoietin gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1604556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17686814 11803615 TSLP thymic stromal lymphopoietin gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1621562 D RGD:9068941 20220825 MouseDO 11803615 TSLP thymic stromal lymphopoietin gene DOID:3042 allergic contact dermatitis treatment ISO RGD:1621562 D RGD:9068941 20200910 RGD PMID:30187507|REF_RGD_ID:38596345 11803615 TSLP thymic stromal lymphopoietin gene DOID:3107 toxascariasis ISO RGD:1621562 D RGD:9068941 20200910 RGD mRNA:increased expression:multiple (mouse) PMID:24327787|REF_RGD_ID:38596353 11803615 TSLP thymic stromal lymphopoietin gene DOID:3310 atopic dermatitis ISO RGD:1604556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16880407|PMID:22355542|PMID:23688403|PMID:27869817 11803615 TSLP thymic stromal lymphopoietin gene DOID:3310 atopic dermatitis ISO RGD:1621562 D RGD:9068941 20220825 MouseDO OMIM:603165 11803615 TSLP thymic stromal lymphopoietin gene DOID:3310 atopic dermatitis treatment ISO RGD:1621562 D RGD:9068941 20201225 RGD PMID:29310423|REF_RGD_ID:38549374 11803615 TSLP thymic stromal lymphopoietin gene DOID:630 genetic disease ISO RGD:1604556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803615 TSLP thymic stromal lymphopoietin gene DOID:684 hepatocellular carcinoma ISO RGD:1604556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11803615 TSLP thymic stromal lymphopoietin gene DOID:718 autoimmune hemolytic anemia ISO RGD:1621562 D RGD:9068941 20220825 MouseDO OMIM:205700 11803615 TSLP thymic stromal lymphopoietin gene DOID:9001542 Albuminuria ISO RGD:1604556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17686814 11803615 TSLP thymic stromal lymphopoietin gene DOID:9002869 Schistosomiasis Mansoni treatment ISO RGD:1621562 D RGD:9068941 20200910 RGD PMID:22882457|REF_RGD_ID:38596354 11803615 TSLP thymic stromal lymphopoietin gene DOID:9003470 Picornaviridae Infections ISO RGD:1621562 D RGD:9068941 20200904 RGD mRNA, protein:increased expression:lung,bronchoalveolar lavage fluid (mouse) PMID:26100084|REF_RGD_ID:11085671 11803615 TSLP thymic stromal lymphopoietin gene DOID:9003470 Picornaviridae Infections ISO RGD:1621562 D RGD:9068941 20201001 RGD protein:increased expression:lung (mouse) PMID:28701507|REF_RGD_ID:38596334 11803615 TSLP thymic stromal lymphopoietin gene DOID:9004055 Fungal Keratitis disease_progression ISO RGD:1621562 D RGD:9068941 20200903 RGD PMID:29550278|PMID:30853520|REF_RGD_ID:38549371|REF_RGD_ID:38549574 11803615 TSLP thymic stromal lymphopoietin gene DOID:9004092 cryoglobulinemic vasculitis ISO RGD:1604556 D RGD:9068941 20200903 RGD associated with Chronic Hepatitis C; mRNA, protein:increased expression:skin, serum (human) PMID:25889007|REF_RGD_ID:38596329 11803615 TSLP thymic stromal lymphopoietin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11803615 TSLP thymic stromal lymphopoietin gene DOID:9004484 Sepsis disease_progression ISO RGD:1621562 D RGD:9068941 20200904 RGD protein:increased expression:peritoneum, plasma (mouse) PMID:26934097|REF_RGD_ID:38596335 11803615 TSLP thymic stromal lymphopoietin gene DOID:9004484 Sepsis treatment ISO RGD:1621562 D RGD:9068941 20200903 RGD PMID:24990542|REF_RGD_ID:38549375 11803615 TSLP thymic stromal lymphopoietin gene DOID:9005372 Inflammation ISO RGD:1604556 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28329851 11803615 TSLP thymic stromal lymphopoietin gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:1604556 D RGD:9068941 20200904 RGD mRNA, protein:increased expression:nasal mucus (human) PMID:28471975|REF_RGD_ID:38596342 11803615 TSLP thymic stromal lymphopoietin gene DOID:9006966 Pseudomonas Aeruginosa Keratitis severity ISO RGD:1621562 D RGD:9068941 20200903 RGD PMID:30128494|REF_RGD_ID:38596331 11803615 TSLP thymic stromal lymphopoietin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604556 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11803615 TSLP thymic stromal lymphopoietin gene DOID:9784 trichinosis disease_progression ISO RGD:1621562 D RGD:9068941 20200904 RGD PMID:23024277|REF_RGD_ID:38596337 11803629 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:0050691 branchiooculofacial syndrome ISO RGD:1317054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Branchio-Oculo-Facial Syndrome | ClinVar Annotator: match by term: Branchiooculofacial syndrome PMID:10464653|PMID:15146463|PMID:18220287|PMID:19951260|PMID:21280147|PMID:24033266|PMID:24489909|PMID:25741868|PMID:28492532|PMID:28832562|PMID:30655312 11803629 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:0060232 branchiootic syndrome ISO RGD:1317054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Branchiootic dysplasia PMID:10464653|PMID:10991693|PMID:15146463|PMID:18220287|PMID:19951260|PMID:21280147|PMID:23506628|PMID:24033266|PMID:24123792|PMID:24429398|PMID:24489909|PMID:25741868|PMID:26489027|PMID:28492532|PMID:28832562|PMID:29966037|PMID:30655312|PMID:31049720|PMID:9361030 11803629 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:0060648 anterior segment dysgenesis ISO RGD:1317054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anterior segment anomalies | ClinVar Annotator: match by term: Anterior segment anomalies and cataract PMID:10655545 11803629 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:0080204 renal hypoplasia ISO RGD:1317054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal hypoplasia PMID:28492532 11803629 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1317054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:10991693|PMID:24033266|PMID:25741868|PMID:31049720 11803629 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:0111423 branchiootorenal syndrome 1 ISO RGD:1317054 D RGD:7240710 20191106 OMIM 11803629 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:0111423 branchiootorenal syndrome 1 ISO RGD:1317054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Branchiootorenal syndrome 1 PMID:10464653|PMID:10655545|PMID:10991693|PMID:11734542|PMID:15146463|PMID:15802522|PMID:16691597|PMID:16797546|PMID:17576681|PMID:18177466|PMID:18220287|PMID:18678597|PMID:19206155|PMID:19951260|PMID:20848651|PMID:21280147|PMID:22340499|PMID:22382802|PMID:23435380|PMID:23506628|PMID:23967202|PMID:24033266|PMID:24489909|PMID:25107291|PMID:25741868|PMID:26969326|PMID:27657687|PMID:2773990|PMID:28492532|PMID:28832562|PMID:29500469|PMID:30655312|PMID:30937553|PMID:31049720|PMID:33532864|PMID:5365063|PMID:9020840|PMID:9361030|PMID:9536098|PMID:9603436 11803629 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:10283 prostate cancer ISO RGD:1317054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11803629 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1317054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:10991693|PMID:24033266|PMID:25741868|PMID:31049720 11803629 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:14702 branchiootorenal syndrome ISO RGD:1317054 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Branchiootorenal Spectrum Disorders | ClinVar Annotator: match by term: Branchiootorenal syndrome | ClinVar Annotator: match by term: Branchiootorenal syndrome with cataract | ClinVar Annotator: match by term: Melnick-Fraser syndrome PMID:10429368|PMID:10464653|PMID:10655545|PMID:10991693|PMID:11683347|PMID:11734542|PMID:12404110|PMID:15146463|PMID:15802522|PMID:16199547|PMID:16441263|PMID:16491411|PMID:16691597|PMID:16797546|PMID:17576681|PMID:18065799|PMID:18177466|PMID:18220287|PMID:18678597|PMID:19206155|PMID:19951260|PMID:20848651|PMID:21280147|PMID:22340499|PMID:22382802|PMID:22447252|PMID:23435380|PMID:23508780|PMID:23552953|PMID:23840632|PMID:23967202|PMID:24033266|PMID:24123792|PMID:24429398|PMID:24489909|PMID:25107291|PMID:25741868|PMID:26310487|PMID:26467025|PMID:26489027|PMID:26667035|PMID:26969326|PMID:27657687|PMID:2773990|PMID:28289595|PMID:28492532|PMID:28832562|PMID:29500469|PMID:29966037|PMID:30311386|PMID:30655312|PMID:30937553|PMID:31427586|PMID:33240318|PMID:34031707|PMID:34160378|PMID:35982127|PMID:9020840|PMID:9361030|PMID:9536098|PMID:9603436 11803629 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:14766 renal agenesis ISO RGD:1317054 D RGD:8554872 20220531 ClinVar ClinVar Annotator: match by term: Bilateral renal agenesis PMID:25741868|PMID:35005812 11803629 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:1682 congenital heart disease ISO RGD:1317054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15493068 11803629 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:630 genetic disease ISO RGD:1317054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10464653|PMID:16691597|PMID:18177466|PMID:18220287|PMID:21280147|PMID:24033266|PMID:25741868|PMID:26969326|PMID:28492532|PMID:29500469|PMID:35982127|PMID:9603436 11803629 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:699 mitochondrial myopathy ISO RGD:1317054 D RGD:9068941 20200609 RGD mRNA:increased expression:muscle: PMID:23107834|REF_RGD_ID:8694159 11803629 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:83 cataract ISO RGD:1317054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:15146463|PMID:18220287|PMID:24033266|PMID:24123792|PMID:24429398|PMID:25741868|PMID:26489027|PMID:28492532|PMID:29966037|PMID:9361030 11803629 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9000096 Lung Agenesis ISO RGD:1584849 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:lung epithelium: PMID:24528972|REF_RGD_ID:8554873 11803629 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9002083 Branchiootic Syndrome 1 ISO RGD:1317054 D RGD:7240710 20200930 OMIM 11803629 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9002083 Branchiootic Syndrome 1 ISO RGD:1317054 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: BO syndrome 1 | ClinVar Annotator: match by term: Branchiootic syndrome 1 PMID:10464653|PMID:10655545|PMID:10991693|PMID:11683347|PMID:11734542|PMID:12701758|PMID:15146463|PMID:15493068|PMID:15802522|PMID:16199547|PMID:16691597|PMID:16797546|PMID:17576681|PMID:18177466|PMID:18220287|PMID:18678597|PMID:19951260|PMID:21280147|PMID:22340499|PMID:22447252|PMID:23435380|PMID:23506628|PMID:23552953|PMID:23967202|PMID:24033266|PMID:24123792|PMID:24429398|PMID:24489909|PMID:25107291|PMID:25741868|PMID:26467025|PMID:26489027|PMID:26667035|PMID:26969326|PMID:27657687|PMID:28492532|PMID:28832562|PMID:29966037|PMID:30311386|PMID:30655312|PMID:31049720|PMID:33240318|PMID:9359046|PMID:9361030|PMID:9536098 11803629 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9002601 Otofaciocervical Syndrome 1 ISO RGD:1317054 D RGD:7240710 20180130 OMIM 11803629 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9002601 Otofaciocervical Syndrome 1 ISO RGD:1317054 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Otofaciocervical syndrome 1 PMID:10464653|PMID:10655545|PMID:10991693|PMID:11734542|PMID:12701758|PMID:15146463|PMID:15802522|PMID:16199547|PMID:16441263|PMID:16797546|PMID:18220287|PMID:18678597|PMID:19951260|PMID:22340499|PMID:22447252|PMID:23435380|PMID:23506628|PMID:23552953|PMID:23967202|PMID:24033266|PMID:24123792|PMID:24429398|PMID:24489909|PMID:25741868|PMID:26310487|PMID:26467025|PMID:26489027|PMID:26667035|PMID:28492532|PMID:29966037|PMID:30311386|PMID:31049720|PMID:9361030 11803629 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1317101 D RGD:9068941 20221103 RGD PMID:21364285|REF_RGD_ID:11561941 11803629 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9003483 Conductive Hearing Loss ISO RGD:1317054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10471511 11803629 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9004538 Hearing Loss ISO RGD:1317054 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:23552953|PMID:24033266|PMID:25741868|PMID:26667035|PMID:28492532|PMID:30311386 11803629 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9005835 Congenital Abnormalities ISO RGD:1317054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10471511 11803629 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9006596 Cayler Cardiofacial Syndrome ISO RGD:1317054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15493068 11803629 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1317054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10471511 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:0050073 invasive aspergillosis ISO RGD:1332345 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20926800|REF_RGD_ID:7483599 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:0050486 exanthem ISO RGD:1347908 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:skin PMID:18384452|REF_RGD_ID:7483602 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma disease_progression ISO RGD:1347908 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:skin, serum PMID:22048239|REF_RGD_ID:7483601 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:0080158 herpes simplex virus keratitis ISO RGD:1332345 D RGD:9068941 20200609 RGD PMID:15287366|REF_RGD_ID:7483593 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:0080600 COVID-19 ISO RGD:1347908 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:10140 dry eye syndrome treatment ISO RGD:1332345 D RGD:9068941 20200609 RGD PMID:23702781|REF_RGD_ID:7483582 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:11168 anogenital venereal wart ISO RGD:1347908 D RGD:9068941 20200609 RGD protein:decreased expression:skin PMID:17545018|REF_RGD_ID:7483603 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:11729 Lyme disease ISO RGD:1347908 D RGD:9068941 20200609 RGD protein:increased expression:synovial fluid PMID:23371320|REF_RGD_ID:7488895 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:1205 allergic disease ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:12895 keratoconjunctivitis sicca ISO RGD:735948 D RGD:9068941 20200609 RGD mRNA:increased expression:conjunctiva, cornea PMID:20007286|REF_RGD_ID:7483613 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:1564 fungal infectious disease ISO RGD:1347908 D RGD:9068941 20200609 RGD associated with Rhinosinusitis PMID:22287435|REF_RGD_ID:7483612 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:1793 pancreatic cancer ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30603057 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:1793 pancreatic cancer ISO RGD:1347908 D RGD:9068941 20200609 RGD PMID:10225458|REF_RGD_ID:7483623 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:224 transient cerebral ischemia treatment ISO RGD:3646 D RGD:9068941 20200609 RGD PMID:19428685|REF_RGD_ID:7488896 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:2316 brain ischemia ISO RGD:3646 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:9916893|REF_RGD_ID:69987 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:2377 multiple sclerosis ISO RGD:1347908 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:2722 acrodermatitis ISO RGD:1347908 D RGD:9068941 20200609 RGD mRNA:decreased expression:skin PMID:17606602|REF_RGD_ID:7483609 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:2841 asthma ISO RGD:1347908 D RGD:9068941 20200609 RGD associated with Allergic Rhinitis;protein:increased expression:serum PMID:22469443|REF_RGD_ID:7483618 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:2841 asthma ISO RGD:1347908 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:18422729|REF_RGD_ID:7483597 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:1347908 D RGD:9068941 20200609 RGD PMID:23192593|REF_RGD_ID:7483632 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:3178 skin papilloma ISO RGD:1347908 D RGD:9068941 20200609 RGD protein:decreased expression:skin PMID:21715145|REF_RGD_ID:7483622 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:3310 atopic dermatitis severity ISO RGD:1347908 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:11133838|REF_RGD_ID:7483580 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:3310 atopic dermatitis treatment ISO RGD:1332345 D RGD:9068941 20200609 RGD PMID:19162238|REF_RGD_ID:7483583 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:37 skin disease ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:418 systemic scleroderma ISO RGD:1347908 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:21742595|REF_RGD_ID:7483587 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:5199 ureteral obstruction ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:552 pneumonia ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:630 genetic disease ISO RGD:1347908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:8577 ulcerative colitis ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16306769 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:8577 ulcerative colitis treatment ISO RGD:3646 D RGD:9068941 20200609 RGD PMID:21887805|REF_RGD_ID:7488892 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:8893 psoriasis ISO RGD:1332345 D RGD:9068941 20200609 RGD PMID:22895364|REF_RGD_ID:7483594 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:8893 psoriasis ISO RGD:1347908 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:10843722|REF_RGD_ID:7483581 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:8893 psoriasis treatment ISO RGD:1347908 D RGD:9068941 20200609 RGD PMID:16081850|REF_RGD_ID:7483625 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1347908 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19247846|REF_RGD_ID:14995923 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:3646 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral artery PMID:17977275|REF_RGD_ID:7488893 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30603057 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:9000998 Brain Injuries treatment ISO RGD:3646 D RGD:9068941 20200609 RGD PMID:22040257|REF_RGD_ID:7483630 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:9001472 Nasal Polyps ISO RGD:1347908 D RGD:9068941 20200609 RGD associated with Allergic Rhinitis PMID:19027509|REF_RGD_ID:7483586 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:9001472 Nasal Polyps ISO RGD:1347908 D RGD:9068941 20200609 RGD associated with Rhinosinusitis PMID:22287435|REF_RGD_ID:7483612 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30603057 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:9002165 Diabetic Nephropathies ISO RGD:3646 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17664181|REF_RGD_ID:7483629 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:9002395 Hypothermia ISO RGD:3646 D RGD:9068941 20200609 RGD PMID:16469832|REF_RGD_ID:2311385 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:9002928 Colonic Neoplasms ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:9003036 Oral Lichen Planus ISO RGD:1347908 D RGD:9068941 20200609 RGD PMID:16454813|REF_RGD_ID:7483584 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:9004118 Experimental Melanoma treatment ISO RGD:1332345 D RGD:9068941 20200609 RGD PMID:14500387|REF_RGD_ID:7483600 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:9004590 Acute Liver Failure ISO RGD:1347908 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19247846|REF_RGD_ID:14995923 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21340626 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:9005941 Rhinosinusitis ISO RGD:1347908 D RGD:9068941 20200609 RGD PMID:16702571|REF_RGD_ID:7483585 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:9007964 Arsenic Poisoning ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:9008443 Colorectal Neoplasms treatment ISO RGD:1332345 D RGD:9068941 20200609 RGD PMID:14500387|REF_RGD_ID:7483600 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:9008939 Breast Neoplasms ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21340626 11803652 CCL20 C-C motif chemokine ligand 20 gene DOID:9938 dacryocystitis ISO RGD:735948|RGD:737488 D RGD:9068941 20200609 RGD PMID:23116218|REF_RGD_ID:7483616 11803664 GTF2E1 general transcription factor IIE subunit 1 gene DOID:630 genetic disease ISO RGD:1315703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803664 GTF2E1 general transcription factor IIE subunit 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1315703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 11803664 GTF2E1 general transcription factor IIE subunit 1 gene DOID:9270 alkaptonuria ISO RGD:1315703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11803706 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:735512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12754746 11803706 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:735513 D RGD:9068941 20220217 RGD PMID:32015322|REF_RGD_ID:151356909 11803706 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:0080600 COVID-19 ISO RGD:735512 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 11803706 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:0111940 immunodeficiency 42 ISO RGD:735512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11803706 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:735512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11803706 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:735512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11803706 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:10534 stomach cancer ISO RGD:735512 D RGD:9068941 20220224 RGD protein:increased expression:stomach (human) PMID:28274596|REF_RGD_ID:151356999 11803706 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:10534 stomach cancer severity ISO RGD:735512 D RGD:9068941 20220224 RGD protein:increased expression:stomach (human) PMID:25482013|PMID:25672320|REF_RGD_ID:151356929|REF_RGD_ID:151356982 11803706 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:1115 sarcoma ISO RGD:735512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15217956 11803706 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:1324 lung cancer ISO RGD:735512 D RGD:9068941 20220217 RGD protein:increased expression:lung (human) PMID:28776569|REF_RGD_ID:151356930 11803706 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:1324 lung cancer ISO RGD:735512 D RGD:9068941 20220224 RGD DNA:SNP:promoter:-190indel, -235C>A, (rs3831987,rs3738484) PMID:21887682|REF_RGD_ID:151356991 11803706 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:1324 lung cancer ameliorates ISO RGD:735512 D RGD:9068941 20220217 RGD human cells in mouse model PMID:31662324|REF_RGD_ID:151356915 11803706 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:1540 parathyroid carcinoma ISO RGD:735512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11803706 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:219 colon cancer ameliorates ISO RGD:735512 D RGD:9068941 20220217 RGD human cells in mouse model PMID:29899555|REF_RGD_ID:151356919 11803706 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:3908 lung non-small cell carcinoma ISO RGD:735512 D RGD:9068941 20220217 RGD protein:increased expression:lung, cytoplasm (human) PMID:24469836|REF_RGD_ID:151356906 11803706 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:735512 D RGD:9068941 20220224 RGD human cells in mouse model PMID:32276600|REF_RGD_ID:151357000 11803706 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735512 D RGD:9068941 20220217 RGD DNA:mutations:multiple PMID:27264345|REF_RGD_ID:151356758 11803706 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735512 D RGD:9068941 20220217 RGD protein:increased expression:lung, cytoplasm (human) PMID:29567880|REF_RGD_ID:151356750 11803706 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:735512 D RGD:9068941 20220217 RGD protein:increased expression:lung (human) PMID:31662324|PMID:32945371|REF_RGD_ID:151356915|REF_RGD_ID:151356931 11803706 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:3910 lung adenocarcinoma severity ISO RGD:735512 D RGD:9068941 20220217 RGD mRNA:increased expression:lung (human) PMID:31200834|REF_RGD_ID:151356911 11803706 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:3910 lung adenocarcinoma treatment ISO RGD:735512 D RGD:9068941 20220217 RGD human cells in mouse model PMID:31200834|REF_RGD_ID:151356911 11803706 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:5812 MHC class II deficiency ISO RGD:735512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11803706 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:630 genetic disease ISO RGD:735512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803706 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9002189 High Myopia ISO RGD:735512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11803706 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9002245 Intestinal Neoplasms ISO RGD:735513 D RGD:9068941 20220217 RGD PMID:32179094|REF_RGD_ID:151356755 11803706 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9005172 Lung Neoplasms ISO RGD:735512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19903766|PMID:27935865 11803706 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9065 leishmaniasis ISO RGD:735512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670606 11803706 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9206 Barrett's esophagus ISO RGD:735512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127259 11803706 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11803706 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9256 colorectal cancer disease_progression ISO RGD:735512 D RGD:9068941 20220210 RGD DNA:SNP:promoter: (rs9803935) (human) PMID:32619164|REF_RGD_ID:151356738 11803706 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9256 colorectal cancer disease_progression ISO RGD:735512 D RGD:9068941 20220217 RGD mRNA,protein:increased expression:colon (human) PMID:29899555|REF_RGD_ID:151356919 11803706 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9538 multiple myeloma ISO RGD:735512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12429644 11803726 GPR83 G protein-coupled receptor 83 gene DOID:1059 intellectual disability ISO RGD:1352259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11803726 GPR83 G protein-coupled receptor 83 gene DOID:630 genetic disease ISO RGD:1352259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803739 LOC100981207 olfactory receptor 51B6 gene DOID:630 genetic disease ISO RGD:1350324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803742 ANKRD50 ankyrin repeat domain containing 50 gene DOID:630 genetic disease ISO RGD:1603620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803742 ANKRD50 ankyrin repeat domain containing 50 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11803751 CIB1 calcium and integrin binding 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:732228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 11803751 CIB1 calcium and integrin binding 1 gene DOID:10652 Alzheimer's disease ISO RGD:620133 D RGD:9068941 20200609 RGD protein:decreased expression:brain (human) PMID:15885068|REF_RGD_ID:10401854 11803751 CIB1 calcium and integrin binding 1 gene DOID:12858 Huntington's disease ISO RGD:732229 D RGD:9068941 20200609 RGD mRNA:increased expression:head of caudate nucleus (mouse) PMID:24324398|REF_RGD_ID:10401859 11803751 CIB1 calcium and integrin binding 1 gene DOID:2717 Bloom syndrome ISO RGD:732228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11803751 CIB1 calcium and integrin binding 1 gene DOID:630 genetic disease ISO RGD:732228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11803751 CIB1 calcium and integrin binding 1 gene DOID:9006571 Epidermodysplasia Verruciformis 3 ISO RGD:732228 D RGD:7240710 20190315 OMIM 11803751 CIB1 calcium and integrin binding 1 gene DOID:9006571 Epidermodysplasia Verruciformis 3 ISO RGD:732228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3 PMID:19702156|PMID:20982046|PMID:21196704|PMID:228581|PMID:28492532|PMID:28646613|PMID:30068544 11803751 CIB1 calcium and integrin binding 1 gene DOID:9256 colorectal cancer ISO RGD:732228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11803771 RAD1 RAD1 checkpoint DNA exonuclease gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:1315145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:28492532 11803771 RAD1 RAD1 checkpoint DNA exonuclease gene DOID:630 genetic disease ISO RGD:1315145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803771 RAD1 RAD1 checkpoint DNA exonuclease gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11803781 PPP2R2C protein phosphatase 2 regulatory subunit Bgamma gene DOID:630 genetic disease ISO RGD:732376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803781 PPP2R2C protein phosphatase 2 regulatory subunit Bgamma gene DOID:9002884 Emphysema ISO RGD:732376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22223484 11803800 PLXNA3 plexin A3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1349180 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11803800 PLXNA3 plexin A3 gene DOID:0050476 Barth syndrome ISO RGD:1349180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11803800 PLXNA3 plexin A3 gene DOID:0050800 creatine transporter deficiency ISO RGD:1349180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11803800 PLXNA3 plexin A3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11803800 PLXNA3 plexin A3 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1349180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 11803800 PLXNA3 plexin A3 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 11803800 PLXNA3 plexin A3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1349180 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11803800 PLXNA3 plexin A3 gene DOID:10588 adrenoleukodystrophy ISO RGD:1349180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11803800 PLXNA3 plexin A3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11803800 PLXNA3 plexin A3 gene DOID:12849 autistic disorder ISO RGD:1349180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11803800 PLXNA3 plexin A3 gene DOID:13628 favism ISO RGD:1349180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11803800 PLXNA3 plexin A3 gene DOID:1921 Klinefelter syndrome ISO RGD:1349180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 11803800 PLXNA3 plexin A3 gene DOID:1923 disorder of sexual development ISO RGD:1349180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 11803800 PLXNA3 plexin A3 gene DOID:2729 dyskeratosis congenita ISO RGD:1349180 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11803800 PLXNA3 plexin A3 gene DOID:607 paraplegia ISO RGD:1349180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11803800 PLXNA3 plexin A3 gene DOID:630 genetic disease ISO RGD:1349180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11803800 PLXNA3 plexin A3 gene DOID:9002720 Splenomegaly ISO RGD:1349180 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11803800 PLXNA3 plexin A3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11803800 PLXNA3 plexin A3 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1349180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 11803800 PLXNA3 plexin A3 gene DOID:9007661 Dwarfism ISO RGD:1349180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11803800 PLXNA3 plexin A3 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1349180 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21933904 11803844 TPPP2 tubulin polymerization promoting protein family member 2 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1343731 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 11803844 TPPP2 tubulin polymerization promoting protein family member 2 gene DOID:630 genetic disease ISO RGD:1343731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803844 TPPP2 tubulin polymerization promoting protein family member 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343731 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11803866 RCBTB1 RCC1 and BTB domain containing protein 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1318252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11803866 RCBTB1 RCC1 and BTB domain containing protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1318252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:27486781|PMID:28492532 11803866 RCBTB1 RCC1 and BTB domain containing protein 1 gene DOID:1059 intellectual disability ISO RGD:1318252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11803866 RCBTB1 RCC1 and BTB domain containing protein 1 gene DOID:630 genetic disease ISO RGD:1318252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11803866 RCBTB1 RCC1 and BTB domain containing protein 1 gene DOID:7736 retinal telangiectasia ISO RGD:1318252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal telangiectasis PMID:25741868|PMID:26908610|PMID:28492532|PMID:31494449 11803866 RCBTB1 RCC1 and BTB domain containing protein 1 gene DOID:7765 Coats disease ISO RGD:1318252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Coats disease | ClinVar Annotator: match by term: Exudative retinopathy PMID:25741868|PMID:26908610|PMID:28492532|PMID:31494449 11803866 RCBTB1 RCC1 and BTB domain containing protein 1 gene DOID:9002248 RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES ISO RGD:1318252 D RGD:7240710 20190315 OMIM 11803866 RCBTB1 RCC1 and BTB domain containing protein 1 gene DOID:9002248 RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES ISO RGD:1318252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES | ClinVar Annotator: match by term: Retinal dystrophy with or without extraocular anomalies PMID:25741868|PMID:26908610|PMID:27486781|PMID:28492532|PMID:31494449 11803892 CD1D CD1d molecule gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:27069116|REF_RGD_ID:11534789 11803892 CD1D CD1d molecule gene DOID:10113 trypanosomiasis exacerbates ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:15731095|REF_RGD_ID:127345115 11803892 CD1D CD1d molecule gene DOID:10534 stomach cancer disease_progression ISO RGD:1353762 D RGD:9068941 20210709 RGD mRNA:splice variant:pyloric antrum (human)) PMID:26119195|REF_RGD_ID:11074500 11803892 CD1D CD1d molecule gene DOID:12206 dengue hemorrhagic fever disease_progression ISO RGD:1353762 D RGD:9068941 20210709 RGD protein:increased expression:cd14-positive monocyte (human) PMID:24945350|REF_RGD_ID:127345113 11803892 CD1D CD1d molecule gene DOID:12365 malaria ameliorates ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:12938235|REF_RGD_ID:127345117 11803892 CD1D CD1d molecule gene DOID:12365 malaria exacerbates ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:24703850|REF_RGD_ID:127345121 11803892 CD1D CD1d molecule gene DOID:1273 respiratory syncytial virus infectious disease ameliorates ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:32463330|REF_RGD_ID:127345107 11803892 CD1D CD1d molecule gene DOID:1394 urinary schistosomiasis ISO RGD:1353762 D RGD:9068941 20210709 RGD protein:increased expression:B cell (human) PMID:22347409|REF_RGD_ID:127345101 11803892 CD1D CD1d molecule gene DOID:1540 parathyroid carcinoma ISO RGD:1353762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11803892 CD1D CD1d molecule gene DOID:2237 hepatitis ameliorates ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:24058536|REF_RGD_ID:127345120 11803892 CD1D CD1d molecule gene DOID:2841 asthma susceptibility ISO RGD:1552895 D RGD:9068941 20210709 RGD associated with fasciolopsiasis PMID:20304473|REF_RGD_ID:4140417 11803892 CD1D CD1d molecule gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1353762 D RGD:9068941 20210709 RGD DNA:SNPS, haplotype:intron, enhancer: (rs859009,rs859010, rs973742) (human) PMID:30972222|REF_RGD_ID:127345096 11803892 CD1D CD1d molecule gene DOID:3388 periodontal disease ameliorates ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:23586756|REF_RGD_ID:127345118 11803892 CD1D CD1d molecule gene DOID:3944 Arenaviridae infectious disease ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:32153566|REF_RGD_ID:127345122 11803892 CD1D CD1d molecule gene DOID:630 genetic disease ISO RGD:1353762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803892 CD1D CD1d molecule gene DOID:820 myocarditis susceptibility ISO RGD:1552895 D RGD:9068941 20210709 RGD associated with Coxsackievirus Infections PMID:20121405|REF_RGD_ID:127345095 11803892 CD1D CD1d molecule gene DOID:820 myocarditis treatment ISO RGD:1552895 D RGD:9068941 20210709 RGD associated with Coxsackievirus Infections PMID:21050191|REF_RGD_ID:11340571 11803892 CD1D CD1d molecule gene DOID:8566 herpes simplex exacerbates ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:18614643|REF_RGD_ID:127345112 11803892 CD1D CD1d molecule gene DOID:8857 lupus erythematosus ameliorates ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:14561706|REF_RGD_ID:127345108 11803892 CD1D CD1d molecule gene DOID:9000220 Coxsackievirus Infections ISO RGD:1552895 D RGD:9068941 20210709 RGD protein:increased expression:spleen, mononuclear cell (mouse) PMID:16817758|REF_RGD_ID:127345109 11803892 CD1D CD1d molecule gene DOID:9000469 Viral Myocarditis ameliorates ISO RGD:1552895 D RGD:9068941 20210709 RGD associated with Coxsackievirus Infections PMID:12626572|REF_RGD_ID:127345102 11803892 CD1D CD1d molecule gene DOID:9002433 Schistosomiasis Japonica treatment ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:33283278|REF_RGD_ID:127345110 11803892 CD1D CD1d molecule gene DOID:9002834 Herpesviridae Infections exacerbates ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:19414797|REF_RGD_ID:127345094 11803892 CD1D CD1d molecule gene DOID:9003470 Picornaviridae Infections ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:16809320|REF_RGD_ID:127345105 11803892 CD1D CD1d molecule gene DOID:9003470 Picornaviridae Infections treatment ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:19949077|REF_RGD_ID:127345106 11803892 CD1D CD1d molecule gene DOID:9004484 Sepsis treatment ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:14572776|REF_RGD_ID:127345103 11803892 CD1D CD1d molecule gene DOID:9005295 Viral Eye Infections exacerbates ISO RGD:1552895 D RGD:9068941 20210709 RGD associated with Herpesviridae Infections PMID:30185591|REF_RGD_ID:127345098 11803892 CD1D CD1d molecule gene DOID:9005757 Metapneumovirus infections ISO RGD:1552895 D RGD:9068941 20210709 RGD protein:decreased expression:alveolar macrophage, monocyte (mouse) PMID:32463330|REF_RGD_ID:127345107 11803892 CD1D CD1d molecule gene DOID:9006262 Cytomegalovirus Infections exacerbates ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:17379092|REF_RGD_ID:127345104 11803892 CD1D CD1d molecule gene DOID:9006741 Acute Hepatitis ameliorates ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:11970881|REF_RGD_ID:127345111 11803892 CD1D CD1d molecule gene DOID:9008090 Chlamydiaceae Infections ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:23999314|REF_RGD_ID:127345116 11803892 CD1D CD1d molecule gene DOID:9008114 Helicobacter Infections ISO RGD:1353762 D RGD:9068941 20210709 RGD associated with dyspepsia;mRNA:splice variant:pyloric antrum (human) PMID:26119195|REF_RGD_ID:11074500 11803892 CD1D CD1d molecule gene DOID:9008163 Chronic Hepatitis B ISO RGD:1353762 D RGD:9068941 20210709 RGD associated with hepatocellular carcinoma;mRNA:increased expression:liver (human) PMID:29643189|REF_RGD_ID:127345114 11803892 CD1D CD1d molecule gene DOID:9008452 Candidemia ameliorates ISO RGD:1552895 D RGD:9068941 20210709 RGD associated with endotoxemia PMID:32154791|REF_RGD_ID:127345119 11803892 CD1D CD1d molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11803910 MBLAC1 metallo-beta-lactamase domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11803910 MBLAC1 metallo-beta-lactamase domain containing 1 gene DOID:630 genetic disease ISO RGD:1602638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803916 MYOM3 myomesin 3 gene DOID:630 genetic disease ISO RGD:1320744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803916 MYOM3 myomesin 3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1320744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11803916 MYOM3 myomesin 3 gene DOID:9006836 Contracture ISO RGD:1320744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 11803961 PAPPA pappalysin 1 gene DOID:0110581 autosomal dominant nonsyndromic deafness 56 ISO RGD:1317112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 56 PMID:21681106|PMID:23936043 11803961 PAPPA pappalysin 1 gene DOID:10763 hypertension ISO RGD:1317112 D RGD:9068941 20200609 RGD associated with Pregnancy Complications, Cardiovascular;protein:decreased expression:serum PMID:12224070|REF_RGD_ID:1642331 11803961 PAPPA pappalysin 1 gene DOID:2349 arteriosclerosis ISO RGD:1317112 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16614002|REF_RGD_ID:1642326 11803961 PAPPA pappalysin 1 gene DOID:2349 arteriosclerosis ISO RGD:1317113 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:17510462|REF_RGD_ID:1642325 11803961 PAPPA pappalysin 1 gene DOID:289 endometriosis ISO RGD:1317112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 11803961 PAPPA pappalysin 1 gene DOID:3393 coronary artery disease ISO RGD:1317112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11586954 11803961 PAPPA pappalysin 1 gene DOID:3393 coronary artery disease severity ISO RGD:1317112 D RGD:9068941 20200609 RGD PMID:16055491|REF_RGD_ID:1642327 11803961 PAPPA pappalysin 1 gene DOID:3407 carotid artery disease ISO RGD:1317112 D RGD:9068941 20200609 RGD associated with Hyperlipidemia;protein:increased expression:serum PMID:12524241|REF_RGD_ID:1642330 11803961 PAPPA pappalysin 1 gene DOID:5844 myocardial infarction ISO RGD:1317112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11586954 11803961 PAPPA pappalysin 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1317112 D RGD:9068941 20200609 RGD DNA:polymorphism:intron PMID:17700210|REF_RGD_ID:1642324 11803961 PAPPA pappalysin 1 gene DOID:630 genetic disease ISO RGD:1317112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803961 PAPPA pappalysin 1 gene DOID:8805 intermediate coronary syndrome ISO RGD:1317112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11586954 11803961 PAPPA pappalysin 1 gene DOID:90 degenerative disc disease ISO RGD:1317112 D RGD:9068941 20200609 RGD protein:increased expression:vertebral disc: PMID:18552658|REF_RGD_ID:10412724 11803961 PAPPA pappalysin 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:1317112 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum PMID:15531533|REF_RGD_ID:1642328 11803961 PAPPA pappalysin 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:1317112 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14661010|REF_RGD_ID:1642329 11803961 PAPPA pappalysin 1 gene DOID:9000888 Pregnancy in Diabetics ISO RGD:1317112 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:serum PMID:9512318|REF_RGD_ID:2313777 11803961 PAPPA pappalysin 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1317112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11586954 11803961 PAPPA pappalysin 1 gene DOID:9007456 Female Infertility ISO RGD:1317112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20130263 11803961 PAPPA pappalysin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317112 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17728480|REF_RGD_ID:2313776 11803989 FAM47E family with sequence similarity 47 member E gene DOID:630 genetic disease ISO RGD:2302124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11803989 FAM47E family with sequence similarity 47 member E gene DOID:891 progressive myoclonus epilepsy ISO RGD:2302124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 11803989 FAM47E family with sequence similarity 47 member E gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:2302124 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11804005 GAREM1 GRB2 associated regulator of MAPK1 subtype 1 gene DOID:1059 intellectual disability ISO RGD:1342843 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11804005 GAREM1 GRB2 associated regulator of MAPK1 subtype 1 gene DOID:630 genetic disease ISO RGD:1342843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804015 SUMO4 small ubiquitin like modifier 4 gene DOID:0080846 latent autoimmune diabetes in adults ISO RGD:1349888 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 5 PMID:15123604|PMID:15247916|PMID:15678134|PMID:15678135|PMID:15678137 11804015 SUMO4 small ubiquitin like modifier 4 gene DOID:0110744 type 1 diabetes mellitus 5 ISO RGD:1349888 D RGD:7240710 20180130 OMIM 11804015 SUMO4 small ubiquitin like modifier 4 gene DOID:0110744 type 1 diabetes mellitus 5 ISO RGD:1349888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 5 PMID:15123604|PMID:15247916|PMID:15678134|PMID:15678135|PMID:15678137 11804015 SUMO4 small ubiquitin like modifier 4 gene DOID:630 genetic disease ISO RGD:1349888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804036 HSD17B8 hydroxysteroid 17-beta dehydrogenase 8 gene DOID:0050553 JMP syndrome ISO RGD:1351353 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11804036 HSD17B8 hydroxysteroid 17-beta dehydrogenase 8 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1351353 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 11804036 HSD17B8 hydroxysteroid 17-beta dehydrogenase 8 gene DOID:630 genetic disease ISO RGD:1351353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804049 WNT8A Wnt family member 8A gene DOID:0060224 atrial fibrillation ISO RGD:1314861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22544366 11804049 WNT8A Wnt family member 8A gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1314861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11804049 WNT8A Wnt family member 8A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11804049 WNT8A Wnt family member 8A gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1314861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 11804049 WNT8A Wnt family member 8A gene DOID:10892 hypospadias ISO RGD:1314861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypospadias PMID:25741868 11804049 WNT8A Wnt family member 8A gene DOID:630 genetic disease ISO RGD:1314861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804049 WNT8A Wnt family member 8A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11804049 WNT8A Wnt family member 8A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 11804049 WNT8A Wnt family member 8A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11804066 SLC35G3 solute carrier family 35 member G3 gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:1350379 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 11804066 SLC35G3 solute carrier family 35 member G3 gene DOID:630 genetic disease ISO RGD:1350379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804066 SLC35G3 solute carrier family 35 member G3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11804073 RNF183 ring finger protein 183 gene DOID:630 genetic disease ISO RGD:1603182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804092 SLC7A2 solute carrier family 7 member 2 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:68562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 11804092 SLC7A2 solute carrier family 7 member 2 gene DOID:2661 myoepithelioma ISO RGD:68562 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11804092 SLC7A2 solute carrier family 7 member 2 gene DOID:630 genetic disease ISO RGD:68562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804113 TBL3 transducin beta like 3 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1313000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 11804113 TBL3 transducin beta like 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1313000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11804113 TBL3 transducin beta like 3 gene DOID:1826 epilepsy ISO RGD:1313000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11804113 TBL3 transducin beta like 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1313000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11804113 TBL3 transducin beta like 3 gene DOID:630 genetic disease ISO RGD:1313000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804185 SREK1 splicing regulatory glutamic acid and lysine rich protein 1 gene DOID:630 genetic disease ISO RGD:1352789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804185 SREK1 splicing regulatory glutamic acid and lysine rich protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11804226 HAPLN2 hyaluronan and proteoglycan link protein 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1351001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11804226 HAPLN2 hyaluronan and proteoglycan link protein 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1351001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11804226 HAPLN2 hyaluronan and proteoglycan link protein 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1351001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11804226 HAPLN2 hyaluronan and proteoglycan link protein 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1351001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11804226 HAPLN2 hyaluronan and proteoglycan link protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1351001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11804226 HAPLN2 hyaluronan and proteoglycan link protein 2 gene DOID:5812 MHC class II deficiency ISO RGD:1351001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11804226 HAPLN2 hyaluronan and proteoglycan link protein 2 gene DOID:630 genetic disease ISO RGD:1351001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804226 HAPLN2 hyaluronan and proteoglycan link protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11804244 MPDU1 mannose-P-dolichol utilization defect 1 gene DOID:0050570 congenital disorder of glycosylation type I ISO RGD:1317039 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type I PMID:11733564|PMID:28492532 11804244 MPDU1 mannose-P-dolichol utilization defect 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1317039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11804244 MPDU1 mannose-P-dolichol utilization defect 1 gene DOID:0080558 congenital disorder of glycosylation If ISO RGD:1317039 D RGD:7240710 20180130 OMIM 11804244 MPDU1 mannose-P-dolichol utilization defect 1 gene DOID:0080558 congenital disorder of glycosylation If ISO RGD:1317039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1F PMID:11733556|PMID:11733564|PMID:16199547|PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532|PMID:28940310 11804244 MPDU1 mannose-P-dolichol utilization defect 1 gene DOID:0080600 COVID-19 ISO RGD:1317039 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11804244 MPDU1 mannose-P-dolichol utilization defect 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1317039 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11804244 MPDU1 mannose-P-dolichol utilization defect 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1317039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11804244 MPDU1 mannose-P-dolichol utilization defect 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1317039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11804244 MPDU1 mannose-P-dolichol utilization defect 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1317039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11804244 MPDU1 mannose-P-dolichol utilization defect 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1317039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 11804244 MPDU1 mannose-P-dolichol utilization defect 1 gene DOID:630 genetic disease ISO RGD:1317039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532 11804260 LOC100981957 solute carrier family 25 member 16 gene DOID:0060873 isolated growth hormone deficiency type IA ISO RGD:1315606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary dwarfism 1 PMID:24389050|PMID:25558065 11804260 LOC100981957 solute carrier family 25 member 16 gene DOID:0070009 Seckel syndrome 8 ISO RGD:1315606 D RGD:7240710 20180130 OMIM 11804260 LOC100981957 solute carrier family 25 member 16 gene DOID:0070009 Seckel syndrome 8 ISO RGD:1315606 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seckel syndrome 8 PMID:24389050|PMID:25558065|PMID:25741868|PMID:28492532 11804260 LOC100981957 solute carrier family 25 member 16 gene DOID:0080100 congenital myopathy ISO RGD:1315606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myopathy PMID:25741868 11804260 LOC100981957 solute carrier family 25 member 16 gene DOID:0111519 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 ISO RGD:1315606 D RGD:7240710 20180130 OMIM 11804260 LOC100981957 solute carrier family 25 member 16 gene DOID:0111519 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 ISO RGD:1315606 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA deletion syndrome with progressive myopathy PMID:23352259|PMID:25741868|PMID:28492532 11804260 LOC100981957 solute carrier family 25 member 16 gene DOID:10907 microcephaly ISO RGD:1315606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11804260 LOC100981957 solute carrier family 25 member 16 gene DOID:2732 Rothmund-Thomson syndrome ISO RGD:1315606 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rothmund-Thomson syndrome PMID:25741868 11804260 LOC100981957 solute carrier family 25 member 16 gene DOID:2843 long QT syndrome ISO RGD:1315606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11804260 LOC100981957 solute carrier family 25 member 16 gene DOID:630 genetic disease ISO RGD:1315606 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:25741868|PMID:28492532 11804260 LOC100981957 solute carrier family 25 member 16 gene DOID:699 mitochondrial myopathy ISO RGD:1315606 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:23352259|REF_RGD_ID:10401079 11804288 TAF6L TATA-box binding protein associated factor 6 like gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1320845 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11804288 TAF6L TATA-box binding protein associated factor 6 like gene DOID:1059 intellectual disability ISO RGD:1320845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11804288 TAF6L TATA-box binding protein associated factor 6 like gene DOID:630 genetic disease ISO RGD:1320845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804310 BACH1 BTB domain and CNC homolog 1 gene DOID:630 genetic disease ISO RGD:1315457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804331 TNKS tankyrase gene DOID:630 genetic disease ISO RGD:1343497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804331 TNKS tankyrase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11804332 ALDH3A2 aldehyde dehydrogenase 3 family member A2 gene DOID:0050777 Joubert syndrome ISO RGD:737085 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11804332 ALDH3A2 aldehyde dehydrogenase 3 family member A2 gene DOID:0060041 autism spectrum disorder ISO RGD:737085 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11804332 ALDH3A2 aldehyde dehydrogenase 3 family member A2 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:737085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 11804332 ALDH3A2 aldehyde dehydrogenase 3 family member A2 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:737085 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 11804332 ALDH3A2 aldehyde dehydrogenase 3 family member A2 gene DOID:12849 autistic disorder ISO RGD:737085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11804332 ALDH3A2 aldehyde dehydrogenase 3 family member A2 gene DOID:14501 Sjogren-Larsson syndrome ISO RGD:737085 D RGD:7240710 20180130 OMIM 11804332 ALDH3A2 aldehyde dehydrogenase 3 family member A2 gene DOID:14501 Sjogren-Larsson syndrome ISO RGD:737085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sjögren-Larsson syndrome PMID:10384396|PMID:10577908|PMID:10792573|PMID:10854114|PMID:11408337|PMID:15241804|PMID:15931689|PMID:16199547|PMID:16536828|PMID:16546179|PMID:16837225|PMID:16903323|PMID:17576681|PMID:17902024|PMID:17971613|PMID:17998529|PMID:18035827|PMID:19124283|PMID:19197545|PMID:19965611|PMID:20049467|PMID:21531120|PMID:21872273|PMID:21968182|PMID:22397046|PMID:23034980|PMID:23450279|PMID:24033266|PMID:25047030|PMID:25532748|PMID:25741868|PMID:25855245|PMID:27717089|PMID:28025403|PMID:28257279|PMID:28471629|PMID:28492532|PMID:29071827|PMID:29130490|PMID:29159939|PMID:29183715|PMID:29704247|PMID:30157790|PMID:30372562|PMID:30925032|PMID:31273323|PMID:31953843|PMID:32005694|PMID:8528251|PMID:9204959|PMID:9250352|PMID:9254849|PMID:9467812|PMID:9536098|PMID:9829906 11804332 ALDH3A2 aldehyde dehydrogenase 3 family member A2 gene DOID:630 genetic disease ISO RGD:737085 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11804332 ALDH3A2 aldehyde dehydrogenase 3 family member A2 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:737085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 11804358 ANKRD65 ankyrin repeat domain 65 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:5508531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11804358 ANKRD65 ankyrin repeat domain 65 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:5508531 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11804358 ANKRD65 ankyrin repeat domain 65 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:5508531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11804358 ANKRD65 ankyrin repeat domain 65 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:5508531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11804358 ANKRD65 ankyrin repeat domain 65 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:5508531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11804358 ANKRD65 ankyrin repeat domain 65 gene DOID:0110994 Joubert syndrome 25 ISO RGD:5508531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11804358 ANKRD65 ankyrin repeat domain 65 gene DOID:0111934 immunodeficiency 38 ISO RGD:5508531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11804358 ANKRD65 ankyrin repeat domain 65 gene DOID:0111935 immunodeficiency 16 ISO RGD:5508531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11804358 ANKRD65 ankyrin repeat domain 65 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:5508531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11804358 ANKRD65 ankyrin repeat domain 65 gene DOID:630 genetic disease ISO RGD:5508531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804358 ANKRD65 ankyrin repeat domain 65 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:5508531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11804358 ANKRD65 ankyrin repeat domain 65 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:5508531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11804358 ANKRD65 ankyrin repeat domain 65 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:5508531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11804365 NEK11 NIMA related kinase 11 gene DOID:630 genetic disease ISO RGD:1318782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804365 NEK11 NIMA related kinase 11 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1318782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 11804365 NEK11 NIMA related kinase 11 gene DOID:9270 alkaptonuria ISO RGD:1318782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11804399 ZNF407 zinc finger protein 407 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1344883 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11804399 ZNF407 zinc finger protein 407 gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:1344883 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:25741868 11804399 ZNF407 zinc finger protein 407 gene DOID:630 genetic disease ISO RGD:1344883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11804399 ZNF407 zinc finger protein 407 gene DOID:6420 pulmonary valve stenosis ISO RGD:1344883 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 11804399 ZNF407 zinc finger protein 407 gene DOID:8445 intestinal volvulus ISO RGD:1344883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11804399 ZNF407 zinc finger protein 407 gene DOID:9000997 Tsukahara Syndrome ISO RGD:1344883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation PMID:25741868 11804399 ZNF407 zinc finger protein 407 gene DOID:9003499 SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES ISO RGD:1344883 D RGD:7240710 20211215 OMIM 11804399 ZNF407 zinc finger protein 407 gene DOID:9003499 SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES ISO RGD:1344883 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies PMID:24907849|PMID:32737394 11804399 ZNF407 zinc finger protein 407 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11804399 ZNF407 zinc finger protein 407 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1344883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11804412 WDR55 WD repeat domain 55 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1603214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11804412 WDR55 WD repeat domain 55 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11804412 WDR55 WD repeat domain 55 gene DOID:630 genetic disease ISO RGD:1603214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804412 WDR55 WD repeat domain 55 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11804412 WDR55 WD repeat domain 55 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11804435 LOC100971665 olfactory receptor 12D2 gene DOID:11372 megacolon ISO RGD:1345064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11804435 LOC100971665 olfactory receptor 12D2 gene DOID:630 genetic disease ISO RGD:1345064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804454 FAM9B family with sequence similarity 9 member B gene DOID:12849 autistic disorder ISO RGD:1345676 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11804454 FAM9B family with sequence similarity 9 member B gene DOID:630 genetic disease ISO RGD:1345676 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804454 FAM9B family with sequence similarity 9 member B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345676 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11804471 CTSS cathepsin S gene DOID:0060180 colitis ISO RGD:731651 D RGD:9068941 20200609 RGD protein:increased activity:cecum, colon, spinal cord PMID:21802389|REF_RGD_ID:5686873 11804471 CTSS cathepsin S gene DOID:0111940 immunodeficiency 42 ISO RGD:1350928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11804471 CTSS cathepsin S gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1350928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11804471 CTSS cathepsin S gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1350928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11804471 CTSS cathepsin S gene DOID:10652 Alzheimer's disease ISO RGD:1350928 D RGD:9068941 20200609 RGD PMID:7717452|REF_RGD_ID:5686914 11804471 CTSS cathepsin S gene DOID:10941 intracranial aneurysm ISO RGD:1350928 D RGD:9068941 20200609 RGD protein:increased expression:brain, artery PMID:18635848|REF_RGD_ID:2306495 11804471 CTSS cathepsin S gene DOID:10941 intracranial aneurysm ISO RGD:621513 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, artery PMID:18635848|REF_RGD_ID:2306495 11804471 CTSS cathepsin S gene DOID:11723 Duchenne muscular dystrophy ISO RGD:731651 D RGD:9068941 20220825 MouseDO OMIM:310200 11804471 CTSS cathepsin S gene DOID:11832 visual epilepsy ISO RGD:731651 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus CA1, microglial cell PMID:17997037|REF_RGD_ID:5686910 11804471 CTSS cathepsin S gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:731651 D RGD:9068941 20200609 RGD PMID:12368333|REF_RGD_ID:5686913 11804471 CTSS cathepsin S gene DOID:14250 Down syndrome ISO RGD:1350928 D RGD:9068941 20200609 RGD PMID:7717452|REF_RGD_ID:5686914 11804471 CTSS cathepsin S gene DOID:1540 parathyroid carcinoma ISO RGD:1350928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11804471 CTSS cathepsin S gene DOID:1936 atherosclerosis ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:12213722|REF_RGD_ID:5687152 11804471 CTSS cathepsin S gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:1350928 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:blood, leukocyte PMID:21143385|REF_RGD_ID:5687146 11804471 CTSS cathepsin S gene DOID:2773 contact dermatitis ISO RGD:1350928 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11804471 CTSS cathepsin S gene DOID:3407 carotid artery disease ISO RGD:1350928 D RGD:9068941 20200609 RGD PMID:9691094|REF_RGD_ID:5687151 11804471 CTSS cathepsin S gene DOID:5812 MHC class II deficiency ISO RGD:1350928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11804471 CTSS cathepsin S gene DOID:630 genetic disease ISO RGD:1350928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804471 CTSS cathepsin S gene DOID:870 neuropathy onset ISO RGD:1350928 D RGD:9068941 20200609 RGD associated with multiple myeloma;DNA:SNP:intron:c.249+541C>T (rs12568757) (human) PMID:21228734|REF_RGD_ID:5686916 11804471 CTSS cathepsin S gene DOID:9000039 Spinal Cord Injuries ISO RGD:621513 D RGD:9068941 20200609 RGD PMID:16344894|REF_RGD_ID:2303423 11804471 CTSS cathepsin S gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350928 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11804471 CTSS cathepsin S gene DOID:9002211 Hyperalgesia ISO RGD:621513 D RGD:9068941 20200609 RGD associated with Arthritis, Experimental PMID:22213084|REF_RGD_ID:5686870 11804471 CTSS cathepsin S gene DOID:9002211 Hyperalgesia ISO RGD:731651 D RGD:9068941 20200609 RGD associated with Colitis PMID:21802389|REF_RGD_ID:5686873 11804471 CTSS cathepsin S gene DOID:9002457 Experimental Arthritis ISO RGD:731651 D RGD:9068941 20200609 RGD PMID:21439785|REF_RGD_ID:5686915 11804471 CTSS cathepsin S gene DOID:9002605 Delayed Hypersensitivity ISO RGD:1350928 D RGD:9068941 20200609 RGD PMID:16631730|REF_RGD_ID:5687149 11804471 CTSS cathepsin S gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:731651 D RGD:9068941 20200609 RGD PMID:21439785|REF_RGD_ID:5686915 11804471 CTSS cathepsin S gene DOID:9004001 Facial Nerve Injuries ISO RGD:731651 D RGD:9068941 20200609 RGD PMID:17539023|REF_RGD_ID:5686912 11804471 CTSS cathepsin S gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1350928 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19700239 11804471 CTSS cathepsin S gene DOID:9005968 Neuralgia ISO RGD:621513 D RGD:9068941 20200609 RGD PMID:17551020|PMID:18700000|REF_RGD_ID:5686878|REF_RGD_ID:5686911 11804471 CTSS cathepsin S gene DOID:9006487 Reoviridae Infections ISO RGD:731651 D RGD:9068941 20200609 RGD PMID:19640986|REF_RGD_ID:5686877 11804471 CTSS cathepsin S gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11804471 CTSS cathepsin S gene DOID:9970 obesity ISO RGD:1350928 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21156398 11804484 PURG purine rich element binding protein G gene DOID:5688 Werner syndrome ISO RGD:1312911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Werner syndrome 11804484 PURG purine rich element binding protein G gene DOID:630 genetic disease ISO RGD:1312911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804491 CDPF1 cysteine rich DPF motif domain containing 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1604737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11804491 CDPF1 cysteine rich DPF motif domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1604737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11804491 CDPF1 cysteine rich DPF motif domain containing 1 gene DOID:630 genetic disease ISO RGD:1604737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:736450 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:0050908 myelodysplastic syndrome ISO RGD:736450 D RGD:9068941 20230427 RGD PMID:24264604|REF_RGD_ID:11352253 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:0060901 lymphoplasmacytic lymphoma disease_progression ISO RGD:736450 D RGD:9068941 20230427 RGD DNA:polymorphism: : PMID:21564078|REF_RGD_ID:11040774 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:0060901 lymphoplasmacytic lymphoma treatment ISO RGD:736450 D RGD:9068941 20230427 RGD DNA:SNP:exon:p.F158V (rs396991) (human) PMID:15659493|REF_RGD_ID:11352262 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:736450 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:0081267 graft-versus-host disease ISO RGD:736450 D RGD:9068941 20230427 RGD DNA:polymorphism:cds:p. V158F(rs396991)(human) PMID:20400988|REF_RGD_ID:11040884 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:0111941 immunodeficiency 20 ISO RGD:736450 D RGD:7240710 20230505 OMIM 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:0111941 immunodeficiency 20 ISO RGD:736450 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity PMID:23006327|PMID:24033266|PMID:25741868|PMID:8608639|PMID:8609432|PMID:8874200 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:1037 lymphoid leukemia no_association ISO RGD:736450 D RGD:9068941 20230427 RGD DNA:polymorphism:exon:p.F158V (rs396991) (human) PMID:15217834|REF_RGD_ID:11344968 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:10608 celiac disease ISO RGD:736450 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:10952 nephritis ISO RGD:1550776 D RGD:9068941 20230427 RGD PMID:16520389|REF_RGD_ID:5508402 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:11832 visual epilepsy susceptibility ISO RGD:736450 D RGD:9068941 20230427 RGD associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.V158F (human) PMID:17596285|REF_RGD_ID:5508454 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:1205 allergic disease treatment ISO RGD:736450 D RGD:9068941 20230427 RGD associated with Purpura, Thrombocytopenic, Idiopathic PMID:22025730|REF_RGD_ID:11352264 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:13241 Behcet's disease susceptibility ISO RGD:736450 D RGD:9068941 20230427 RGD DNA:SNP:exon:p.F158V (rs396991)(human) PMID:19026120|REF_RGD_ID:5508432 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:13375 temporal arteritis ISO RGD:736450 D RGD:9068941 20230427 RGD DNA:polymorphism (human) PMID:16846526|REF_RGD_ID:5147974 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:1389 polyneuropathy treatment ISO RGD:736450 D RGD:9068941 20230427 RGD associated with Monoclonal Gammopathy of Undetermined Significance;DNA:SNP:exon:p.F158V (rs396991) (human) PMID:24487381|REF_RGD_ID:11352254 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:1540 parathyroid carcinoma ISO RGD:736450 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:1587 thrombocytopenia due to platelet alloimmunization treatment ISO RGD:736450 D RGD:9068941 20230427 RGD DNA:SNP:cds: PMID:22775462|REF_RGD_ID:11040770 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:2377 multiple sclerosis disease_progression ISO RGD:736450 D RGD:9068941 20230427 RGD protein:increased expression:gamma-delta T cell PMID:18155780|REF_RGD_ID:5508375 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:2841 asthma susceptibility ISO RGD:736450 D RGD:9068941 20230427 RGD DNA:polymorphism:exon:p.F158V(rs396991)(human) PMID:18199088|REF_RGD_ID:5508449 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:2921 glomerulonephritis ISO RGD:1550776 D RGD:9068941 20230427 RGD PMID:19050295|REF_RGD_ID:5508439 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:2921 glomerulonephritis susceptibility ISO RGD:736450 D RGD:9068941 20230427 RGD associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.V158F (human) PMID:17596285|REF_RGD_ID:5508454 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:736450 D RGD:9068941 20230427 RGD DNA:polymorphism:exon:p.F176V(human) PMID:16221721|REF_RGD_ID:5508463 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:3393 coronary artery disease susceptibility ISO RGD:736450 D RGD:9068941 20230427 RGD DNA:SNP:exon:p.F158V (rs396991)(human) PMID:15910853|REF_RGD_ID:5508464 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:4481 allergic rhinitis susceptibility ISO RGD:736450 D RGD:9068941 20230427 RGD DNA:polymorphism:exon:p.F158V(rs396991)(human) PMID:18199088|REF_RGD_ID:5508449 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:736450 D RGD:9068941 20230427 RGD DNA:cnv: : PMID:19946017|REF_RGD_ID:5508400 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:4780 anti-basement membrane glomerulonephritis no_association ISO RGD:736450 D RGD:9068941 20230427 RGD DNA:polymorphism:exon:(rs396991)(human) PMID:19640933|REF_RGD_ID:5508403 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:526 human immunodeficiency virus infectious disease susceptibility ISO RGD:736450 D RGD:9068941 20230427 RGD DNA:polymorphism:exon:p.F158V(rs396991)(human) PMID:21187939|REF_RGD_ID:5508390 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:552 pneumonia treatment ISO RGD:736450 D RGD:9068941 20230427 RGD associated with Hodgkin Disease;DNA:SNP:exon:p.F158V (rs396991) (human) PMID:20423913|REF_RGD_ID:11352258 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:614 lymphopenia susceptibility ISO RGD:736450 D RGD:9068941 20230427 RGD associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.V158F (human) PMID:17596285|REF_RGD_ID:5508454 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:630 genetic disease ISO RGD:736450 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:633 myositis susceptibility ISO RGD:736450 D RGD:9068941 20230427 RGD DNA:SNP:exon:p.F158V (rs396991)(human) PMID:19493236|REF_RGD_ID:5508428 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:7147 ankylosing spondylitis severity ISO RGD:736450 D RGD:9068941 20230427 RGD protein:decreased expression:polymorphonuclear leucocyte PMID:8453794|REF_RGD_ID:5508388 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:7148 rheumatoid arthritis ISO RGD:736450 D RGD:9068941 20230427 RGD DNA:CNVs PMID:25154742|REF_RGD_ID:11344974 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:7148 rheumatoid arthritis ISO RGD:736450 D RGD:9068941 20230427 RGD protein:decreased expression:NK cell PMID:15334114|REF_RGD_ID:5508467 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:736450 D RGD:9068941 20230427 RGD DNA:polymorphism:exon:p.F158V(rs396991)(human) PMID:19019892|REF_RGD_ID:5508391 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:848 arthritis ISO RGD:736450 D RGD:9068941 20230427 RGD DNA:SNP:exon:F158V (rs396991)(human) PMID:19005160|REF_RGD_ID:5508443 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:848 arthritis susceptibility ISO RGD:736450 D RGD:9068941 20230427 RGD associated with Behcet Syndrome; DNA:SNP:exon:p.F158V (rs396991)(human) PMID:19026120|REF_RGD_ID:5508432 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:8778 Crohn's disease treatment ISO RGD:736450 D RGD:9068941 20230427 RGD DNA:SNP:exon:p.F158V (rs396991) (human) PMID:14987319|REF_RGD_ID:1304543 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:736450 D RGD:9068941 20230427 RGD DNA:SNP:cds:p.V158F(human) PMID:11380443|REF_RGD_ID:11040776 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:8924 autoimmune thrombocytopenic purpura susceptibility ISO RGD:736450 D RGD:9068941 20230427 RGD DNA:SNP:exon:p.F158V (rs396991) (human) PMID:22123287|REF_RGD_ID:11040989 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:1332447 D RGD:9068941 20230427 RGD PMID:15479722|REF_RGD_ID:11344926 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:736450 D RGD:9068941 20230427 RGD DNA:SNP:exon:p.F158V (rs396991) (human) PMID:23484707|REF_RGD_ID:11352255 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736450 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia no_association ISO RGD:736450 D RGD:9068941 20230427 RGD DNA:SNP:exon:p.F158V (rs396991) (human) PMID:14563637|REF_RGD_ID:11352260 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia treatment ISO RGD:736450 D RGD:9068941 20230427 RGD associated with Lymphoma, Large B-Cell, Diffuse;DNA:SNP: :rs396991 (human) PMID:27282998|REF_RGD_ID:11344967 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:9004486 Drug-induced Neutropenia ISO RGD:736450 D RGD:9068941 20230427 RGD associated with Lymphoma, B-Cell;DNA:polymorphism: :p.V158F (human) PMID:20730791|REF_RGD_ID:11352256 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:9004486 Drug-induced Neutropenia ISO RGD:736450 D RGD:9068941 20230427 RGD associated with Lymphoma, Large B-Cell, Diffuse;DNA:polymorphism: :p.V158F (human) PMID:21883784|REF_RGD_ID:11344964 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:9004486 Drug-induced Neutropenia ISO RGD:736450 D RGD:9068941 20230427 RGD associated with Non-Hodgkin lymphoma;DNA:polymorphism: :p.V158F (human) PMID:19933905|REF_RGD_ID:11344973 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:9004792 Familial Mixed Cryoglobulinemia treatment ISO RGD:736450 D RGD:9068941 20230427 RGD DNA:polymorphism: :p.V176F (human) PMID:21538321|REF_RGD_ID:11344956 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:9005125 Lupus Vasculitis, Central Nervous System ISO RGD:736450 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:26773105 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:9008208 Heparin-induced Thrombocytopenia susceptibility ISO RGD:736450 D RGD:9068941 20230427 RGD DNA:SNP:cds:p.V158F(human) PMID:15191947|REF_RGD_ID:11040991 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:9008765 Malarial Anemia severity ISO RGD:736450 D RGD:9068941 20230427 RGD PMID:20231419|REF_RGD_ID:11040771 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:9008765 Malarial Anemia susceptibility ISO RGD:736450 D RGD:9068941 20230427 RGD DNA:polymorphism: :p.F176V (human) PMID:23045477|REF_RGD_ID:11344971 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:9009008 Temporomandibular Joint Dysfunction Syndrome ISO RGD:1303067 D RGD:9068941 20230427 RGD PMID:20589683|REF_RGD_ID:5508377 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:9074 systemic lupus erythematosus ISO RGD:736450 D RGD:9068941 20230427 RGD DNA:CNVs PMID:25154742|REF_RGD_ID:11344974 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:9074 systemic lupus erythematosus ISO RGD:736450 D RGD:9068941 20230427 RGD protein:decreased expression:NK cell PMID:21370226|REF_RGD_ID:5508389 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:736450 D RGD:9068941 20230427 RGD DNA:SNPs:exon:rs403016,rs428888(human) PMID:18625651|REF_RGD_ID:5508444 11804524 FCGR3A Fc gamma receptor IIIa gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736450 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11804540 SLC2A4RG SLC2A4 regulator gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 11804540 SLC2A4RG SLC2A4 regulator gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1343076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 11804540 SLC2A4RG SLC2A4 regulator gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1343076 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11804540 SLC2A4RG SLC2A4 regulator gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1343076 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 11804540 SLC2A4RG SLC2A4 regulator gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 11804540 SLC2A4RG SLC2A4 regulator gene DOID:10283 prostate cancer ISO RGD:1343076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11804540 SLC2A4RG SLC2A4 regulator gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1343076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 11804540 SLC2A4RG SLC2A4 regulator gene DOID:630 genetic disease ISO RGD:1343076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804551 WNK3 WNK lysine deficient protein kinase 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11804551 WNK3 WNK lysine deficient protein kinase 3 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1346670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 11804551 WNK3 WNK lysine deficient protein kinase 3 gene DOID:12849 autistic disorder ISO RGD:1346670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11804551 WNK3 WNK lysine deficient protein kinase 3 gene DOID:630 genetic disease ISO RGD:1346670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11804551 WNK3 WNK lysine deficient protein kinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346670 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 11804588 RFT1 RFT1 homolog gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1342907 D RGD:7240710 20180130 OMIM 11804588 RFT1 RFT1 homolog gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1342907 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CDG In | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:16199547|PMID:17576681|PMID:18313027|PMID:19267216|PMID:19701946|PMID:19856127|PMID:23111317|PMID:25741868|PMID:26892341|PMID:27172925|PMID:28492532|PMID:28940310|PMID:29923091|PMID:30071302|PMID:30653653|PMID:31231135|PMID:33023636|PMID:9536098 11804588 RFT1 RFT1 homolog gene DOID:0110119 autoimmune lymphoproliferative syndrome type 3 ISO RGD:1342907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III PMID:11976687|PMID:23319571|PMID:23430113|PMID:28492532 11804588 RFT1 RFT1 homolog gene DOID:5212 congenital disorder of glycosylation ISO RGD:1342907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 11804588 RFT1 RFT1 homolog gene DOID:630 genetic disease ISO RGD:1342907 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26892341|PMID:28492532|PMID:31231135|PMID:33023636 11804612 HBZ hemoglobin subunit zeta gene DOID:1099 alpha thalassemia ISO RGD:1316709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: alpha Thalassemia PMID:10602170|PMID:11017952|PMID:24025420|PMID:2566576|PMID:26114741|PMID:28791910|PMID:2986746|PMID:3191033|PMID:8460633|PMID:9099846 11804612 HBZ hemoglobin subunit zeta gene DOID:630 genetic disease ISO RGD:1316709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804619 ADM adrenomedullin gene DOID:0080600 COVID-19 ISO RGD:730917 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11804619 ADM adrenomedullin gene DOID:10534 stomach cancer treatment ISO RGD:730917 D RGD:9068941 20220901 RGD human cells in mouse model PMID:16052530|REF_RGD_ID:153344579 11804619 ADM adrenomedullin gene DOID:10762 portal hypertension ISO RGD:730918 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:15086360|REF_RGD_ID:1625304 11804619 ADM adrenomedullin gene DOID:10763 hypertension ISO RGD:2047 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium, aorta PMID:16450076|REF_RGD_ID:1625300 11804619 ADM adrenomedullin gene DOID:10763 hypertension ISO RGD:730917 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16625237|REF_RGD_ID:1625298 11804619 ADM adrenomedullin gene DOID:10808 gastric ulcer ISO RGD:730917 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9845272 11804619 ADM adrenomedullin gene DOID:10824 malignant hypertension ISO RGD:730917 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15284680|REF_RGD_ID:1625303 11804619 ADM adrenomedullin gene DOID:11612 polycystic ovary syndrome ISO RGD:730917 D RGD:9068941 20210709 CTD CTD Direct Evidence: therapeutic PMID:33491863 11804619 ADM adrenomedullin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:2047 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expression:cardiomyocyte PMID:17355819|REF_RGD_ID:1625294 11804619 ADM adrenomedullin gene DOID:12849 autistic disorder ISO RGD:730917 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12579522 11804619 ADM adrenomedullin gene DOID:13603 obstructive jaundice ISO RGD:2047 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:20132852|REF_RGD_ID:7364952 11804619 ADM adrenomedullin gene DOID:14115 toxic shock syndrome ISO RGD:2047 D RGD:9068941 20200609 RGD PMID:17318497|PMID:17766482|REF_RGD_ID:1625310|REF_RGD_ID:1642599 11804619 ADM adrenomedullin gene DOID:1591 renovascular hypertension ISO RGD:730917 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15284680|REF_RGD_ID:1625303 11804619 ADM adrenomedullin gene DOID:1612 breast cancer ISO RGD:730917 D RGD:9068941 20200609 RGD PMID:16841081|REF_RGD_ID:2325318 11804619 ADM adrenomedullin gene DOID:1793 pancreatic cancer ISO RGD:730917 D RGD:9068941 20200609 RGD PMID:16841081|REF_RGD_ID:2325318 11804619 ADM adrenomedullin gene DOID:1793 pancreatic cancer disease_progression ISO RGD:730917 D RGD:9068941 20200609 RGD PMID:17363587|REF_RGD_ID:2325317 11804619 ADM adrenomedullin gene DOID:2018 hyperinsulinism ISO RGD:730917 D RGD:9068941 20200609 RGD associated with Obesity;protein:increased expression:plasma PMID:15789277|REF_RGD_ID:1625301 11804619 ADM adrenomedullin gene DOID:2921 glomerulonephritis ISO RGD:2047 D RGD:9068941 20200609 RGD PMID:20431304|REF_RGD_ID:2325320 11804619 ADM adrenomedullin gene DOID:2921 glomerulonephritis ISO RGD:2047 D RGD:9068941 20200609 RGD associated with Anti-Glomerular Basement Membrane Disease PMID:16735801|REF_RGD_ID:1625317 11804619 ADM adrenomedullin gene DOID:2921 glomerulonephritis ISO RGD:730917 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15063164|PMID:15680492 11804619 ADM adrenomedullin gene DOID:341 peripheral vascular disease ISO RGD:730917 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15350700|REF_RGD_ID:1625302 11804619 ADM adrenomedullin gene DOID:3454 brain infarction treatment ISO RGD:730917 D RGD:9068941 20200609 RGD PMID:21695352|REF_RGD_ID:5508764 11804619 ADM adrenomedullin gene DOID:3892 insulinoma ISO RGD:730917 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, plasma PMID:11331218|REF_RGD_ID:2325319 11804619 ADM adrenomedullin gene DOID:4195 hyperglycemia ISO RGD:730917 D RGD:9068941 20210709 CTD CTD Direct Evidence: therapeutic PMID:33491863 11804619 ADM adrenomedullin gene DOID:5199 ureteral obstruction ISO RGD:2047 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:18945953|REF_RGD_ID:2325637 11804619 ADM adrenomedullin gene DOID:6000 congestive heart failure ISO RGD:2047 D RGD:9068941 20200609 RGD PMID:12623952|REF_RGD_ID:704370 11804619 ADM adrenomedullin gene DOID:630 genetic disease ISO RGD:730917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804619 ADM adrenomedullin gene DOID:6432 pulmonary hypertension ISO RGD:730917 D RGD:9068941 20200609 RGD PMID:14718403|REF_RGD_ID:1625305 11804619 ADM adrenomedullin gene DOID:7693 abdominal aortic aneurysm ISO RGD:730917 D RGD:9068941 20200609 RGD protein:increased expression:mast cell, abdominal aorta PMID:16524566|REF_RGD_ID:1625299 11804619 ADM adrenomedullin gene DOID:8947 diabetic retinopathy ISO RGD:730917 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:19216096|REF_RGD_ID:2313312 11804619 ADM adrenomedullin gene DOID:9000064 Cardiac Arrhythmias ISO RGD:2047 D RGD:9068941 20200609 RGD associated with Myocardial Ischemia PMID:16715121|REF_RGD_ID:1625318 11804619 ADM adrenomedullin gene DOID:9000641 Pain ISO RGD:730917 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043245 11804619 ADM adrenomedullin gene DOID:9001542 Albuminuria ISO RGD:730917 D RGD:9068941 20200609 RGD associated with Hypertension PMID:19424162|REF_RGD_ID:2313311 11804619 ADM adrenomedullin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2047 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16713642|REF_RGD_ID:1625319 11804619 ADM adrenomedullin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730917 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15370692|PMID:16610064 11804619 ADM adrenomedullin gene DOID:9001708 Hemorrhagic Shock ISO RGD:2047 D RGD:9068941 20200609 RGD PMID:15973109|REF_RGD_ID:7364990 11804619 ADM adrenomedullin gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:730917 D RGD:9068941 20200609 RGD PMID:18403050|REF_RGD_ID:7364987 11804619 ADM adrenomedullin gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2047 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver,plasma: PMID:19212187|REF_RGD_ID:7364958 11804619 ADM adrenomedullin gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:730917 D RGD:9068941 20200609 RGD PMID:19212187|REF_RGD_ID:7364958 11804619 ADM adrenomedullin gene DOID:9002211 Hyperalgesia ISO RGD:2047 D RGD:9068941 20200609 RGD PMID:17043245|REF_RGD_ID:1625316 11804619 ADM adrenomedullin gene DOID:9002211 Hyperalgesia ISO RGD:730917 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043245 11804619 ADM adrenomedullin gene DOID:9002802 Acidoses ISO RGD:2047 D RGD:9068941 20200609 RGD associated with Hemorrhage PMID:17255858|REF_RGD_ID:1625312 11804619 ADM adrenomedullin gene DOID:9004009 Reperfusion Injury ISO RGD:2047 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:17263982|REF_RGD_ID:7364988 11804619 ADM adrenomedullin gene DOID:9004484 Sepsis ISO RGD:2047 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:20132852|REF_RGD_ID:7364952 11804619 ADM adrenomedullin gene DOID:9004484 Sepsis ISO RGD:730917 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14766677 11804619 ADM adrenomedullin gene DOID:9004484 Sepsis treatment ISO RGD:730917 D RGD:9068941 20200609 RGD PMID:19009024|REF_RGD_ID:7364986 11804619 ADM adrenomedullin gene DOID:9004484 Sepsis treatment ISO RGD:730917 D RGD:9068941 20200609 RGD associated with Jaundice,Obstructive; PMID:20132852|REF_RGD_ID:7364952 11804619 ADM adrenomedullin gene DOID:9004663 Intestinal Ischemia ISO RGD:2047 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:17263982|REF_RGD_ID:7364988 11804619 ADM adrenomedullin gene DOID:9005587 Starvation ISO RGD:2047 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:stomach PMID:17335899|REF_RGD_ID:1625307 11804619 ADM adrenomedullin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2047 D RGD:9068941 20200609 RGD protein:increased expression:pigmented epithelial cell, retina PMID:16955796|REF_RGD_ID:1625296 11804619 ADM adrenomedullin gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2047 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:20538296|REF_RGD_ID:7364948 11804619 ADM adrenomedullin gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:730917 D RGD:9068941 20200609 RGD PMID:20538296|REF_RGD_ID:7364948 11804619 ADM adrenomedullin gene DOID:9007096 Stroke ISO RGD:2047 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:21695352|REF_RGD_ID:5508764 11804619 ADM adrenomedullin gene DOID:9007102 Myocardial Ischemia ISO RGD:730917 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15350700|REF_RGD_ID:1625302 11804619 ADM adrenomedullin gene DOID:9007692 Insulin Resistance ISO RGD:730917 D RGD:9068941 20210709 CTD CTD Direct Evidence: therapeutic PMID:33491863 11804619 ADM adrenomedullin gene DOID:9256 colorectal cancer ISO RGD:730917 D RGD:9068941 20220609 RGD mRNA,protein:increased expression:colorectum (human) PMID:21839130|REF_RGD_ID:152985531 11804619 ADM adrenomedullin gene DOID:9352 type 2 diabetes mellitus ISO RGD:730917 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17557032|REF_RGD_ID:2313313 11804619 ADM adrenomedullin gene DOID:9970 obesity ISO RGD:730917 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:adipose tissue PMID:16793965|REF_RGD_ID:1625297 11804628 NSUN4 NOP2/Sun RNA methyltransferase 4 gene DOID:630 genetic disease ISO RGD:1343230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804650 ESPL1 extra spindle pole bodies like 1, separase gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1314788 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11804650 ESPL1 extra spindle pole bodies like 1, separase gene DOID:0080600 COVID-19 ISO RGD:1314788 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11804650 ESPL1 extra spindle pole bodies like 1, separase gene DOID:11054 urinary bladder cancer ISO RGD:1314788 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121792 11804650 ESPL1 extra spindle pole bodies like 1, separase gene DOID:1612 breast cancer ISO RGD:1550440 D RGD:9068941 20220825 MouseDO OMIM:114480 11804650 ESPL1 extra spindle pole bodies like 1, separase gene DOID:2671 transitional cell carcinoma ISO RGD:1314788 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121792 11804650 ESPL1 extra spindle pole bodies like 1, separase gene DOID:630 genetic disease ISO RGD:1314788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804650 ESPL1 extra spindle pole bodies like 1, separase gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1314788 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11804685 UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:0050777 Joubert syndrome ISO RGD:1321645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11804685 UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1321645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11804685 UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1321645 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11804685 UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1321645 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11804685 UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11804685 UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1321645 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11804685 UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1321645 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11804685 UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:0080600 COVID-19 ISO RGD:1321645 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11804685 UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1321645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11804685 UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:1826 epilepsy ISO RGD:1321645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11804685 UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:3652 Leigh disease ISO RGD:1321645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11804685 UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:630 genetic disease ISO RGD:1321645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804685 UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1321645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11804701 CDO1 cysteine dioxygenase type 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:737394 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11804701 CDO1 cysteine dioxygenase type 1 gene DOID:10763 hypertension ISO RGD:69262 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:6726227|REF_RGD_ID:2301363 11804701 CDO1 cysteine dioxygenase type 1 gene DOID:12849 autistic disorder ISO RGD:737394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11804701 CDO1 cysteine dioxygenase type 1 gene DOID:630 genetic disease ISO RGD:737394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804701 CDO1 cysteine dioxygenase type 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 11804701 CDO1 cysteine dioxygenase type 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11804701 CDO1 cysteine dioxygenase type 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737394 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11804701 CDO1 cysteine dioxygenase type 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23665415 11804701 CDO1 cysteine dioxygenase type 1 gene DOID:9970 obesity ISO RGD:737395 D RGD:9068941 20200609 RGD PMID:16627576|REF_RGD_ID:2301355 11804710 ACTA1 actin alpha 1, skeletal muscle gene DOID:0080102 congenital fiber-type disproportion ISO RGD:737580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:10508519|PMID:10528865|PMID:12921789|PMID:15226407|PMID:15236405|PMID:15468086|PMID:17387733|PMID:17576681|PMID:18059071|PMID:18414213|PMID:19206168|PMID:19562689|PMID:20301436|PMID:21520333|PMID:22825594|PMID:23757202|PMID:24033266|PMID:24356988|PMID:24642510|PMID:25741868|PMID:26172852|PMID:26467025|PMID:27447704|PMID:28492532|PMID:29172004|PMID:9536098 11804710 ACTA1 actin alpha 1, skeletal muscle gene DOID:0080685 aortic dissection ISO RGD:737580 D RGD:9068941 20220929 RGD protein:decreased expression:aorta (human) PMID:28167124|REF_RGD_ID:155260287 11804710 ACTA1 actin alpha 1, skeletal muscle gene DOID:0110633 rigid spine muscular dystrophy 1 ISO RGD:737580 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy with rigid spine PMID:25182138|PMID:27854218 11804710 ACTA1 actin alpha 1, skeletal muscle gene DOID:0110927 nemaline myopathy 3 ISO RGD:737580 D RGD:7240710 20180130 OMIM 11804710 ACTA1 actin alpha 1, skeletal muscle gene DOID:0110927 nemaline myopathy 3 ISO RGD:737580 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital myopathy 2B, severe infantile, autosomal recessive | ClinVar Annotator: match by term: Congenital myopathy 2C, severe infantile, autosomal dominant | ClinVar Annotator: match by term: Nemaline myopathy 3 | ClinVar Annotator: match by term: Nemaline myopathy 3, autosomal dominant or recessive PMID:10508519|PMID:11333380|PMID:12921789|PMID:1351946|PMID:15226407|PMID:15236405|PMID:15468086|PMID:17187373|PMID:17387733|PMID:18059071|PMID:18414213|PMID:19206168|PMID:19562689|PMID:20301436|PMID:21303860|PMID:22067542|PMID:22095987|PMID:22174871|PMID:22442437|PMID:22825594|PMID:23394784|PMID:24356988|PMID:24642510|PMID:25182138|PMID:25741868|PMID:25938801|PMID:26172852|PMID:26337181|PMID:27447704|PMID:27854218|PMID:28492532|PMID:29288010|PMID:30732915|PMID:30792901|PMID:4952447|PMID:9185179|PMID:9401010 11804710 ACTA1 actin alpha 1, skeletal muscle gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:737580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 11804710 ACTA1 actin alpha 1, skeletal muscle gene DOID:1540 parathyroid carcinoma ISO RGD:737580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11804710 ACTA1 actin alpha 1, skeletal muscle gene DOID:3191 nemaline myopathy ISO RGD:737580 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nemaline myopathy PMID:23757202|PMID:25741868|PMID:28492532 11804710 ACTA1 actin alpha 1, skeletal muscle gene DOID:397 restrictive cardiomyopathy ISO RGD:737580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy PMID:10528865|PMID:17576681|PMID:18414213|PMID:19562689|PMID:23757202|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 11804710 ACTA1 actin alpha 1, skeletal muscle gene DOID:422 congenital structural myopathy ISO RGD:737580 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:10508519|PMID:12921789|PMID:15226407|PMID:15236405|PMID:15468086|PMID:18059071|PMID:19562689|PMID:20301436|PMID:22825594|PMID:24356988|PMID:24642510|PMID:25741868|PMID:26172852|PMID:28492532 11804710 ACTA1 actin alpha 1, skeletal muscle gene DOID:440 neuromuscular disease ISO RGD:737580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:12921789|PMID:15226407|PMID:17227580|PMID:19562689|PMID:24033266|PMID:25470062|PMID:25525159|PMID:28492532 11804710 ACTA1 actin alpha 1, skeletal muscle gene DOID:630 genetic disease ISO RGD:737580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12921789|PMID:19284548|PMID:25741868|PMID:28492532 11804710 ACTA1 actin alpha 1, skeletal muscle gene DOID:9000184 Ventricular Fibrillation ISO RGD:2025 D RGD:9068941 20200609 RGD PMID:16452123|REF_RGD_ID:1598720 11804710 ACTA1 actin alpha 1, skeletal muscle gene DOID:9002252 Scapulohumeroperoneal Myopathy ISO RGD:737580 D RGD:7240710 20190315 OMIM 11804710 ACTA1 actin alpha 1, skeletal muscle gene DOID:9002252 Scapulohumeroperoneal Myopathy ISO RGD:737580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, scapulohumeroperoneal PMID:10508519|PMID:12921789|PMID:1351946|PMID:15226407|PMID:15236405|PMID:15468086|PMID:18059071|PMID:19562689|PMID:20301436|PMID:22095987|PMID:22825594|PMID:23394784|PMID:24356988|PMID:24642510|PMID:24787270|PMID:24852243|PMID:25741868|PMID:25938801|PMID:26172852|PMID:26337181|PMID:27447704|PMID:28492532|PMID:29288010|PMID:30732915|PMID:30792901|PMID:4952447|PMID:9401010 11804710 ACTA1 actin alpha 1, skeletal muscle gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:737580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10601118 11804710 ACTA1 actin alpha 1, skeletal muscle gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:737580 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:10508519|PMID:10528865|PMID:11166164|PMID:11333380|PMID:11525890|PMID:12921789|PMID:1351946|PMID:14733965|PMID:15138616|PMID:15198992|PMID:15226407|PMID:15236405|PMID:15336687|PMID:15468086|PMID:15520409|PMID:16199547|PMID:16427282|PMID:16945536|PMID:17187373|PMID:17227580|PMID:17387733|PMID:17576681|PMID:17705262|PMID:18059071|PMID:18414213|PMID:19206168|PMID:19553121|PMID:19562689|PMID:20179953|PMID:20301436|PMID:20303757|PMID:20621480|PMID:21514153|PMID:21520333|PMID:22095987|PMID:22825594|PMID:23102861|PMID:23294764|PMID:23305948|PMID:23394784|PMID:23650303|PMID:23757202|PMID:24033266|PMID:24313005|PMID:24356988|PMID:24642510|PMID:24787270|PMID:24852243|PMID:25088345|PMID:25182138|PMID:25214167|PMID:25326635|PMID:25470062|PMID:25525159|PMID:25635128|PMID:25741868|PMID:25747004|PMID:25938801|PMID:25987458|PMID:26172852|PMID:26337181|PMID:26436962|PMID:26467025|PMID:27074222|PMID:27112274|PMID:27447704|PMID:27854218|PMID:28256728|PMID:28357410|PMID:28416349|PMID:28492532|PMID:28606400|PMID:28780987|PMID:29172004|PMID:29274205|PMID:29288010|PMID:29731279|PMID:29792937|PMID:30253894|PMID:30354303|PMID:30732915|PMID:30792901|PMID:31127727|PMID:31321302|PMID:31680123|PMID:31724238|PMID:32154989|PMID:32222963|PMID:32989108|PMID:4952447|PMID:9185179|PMID:9401010|PMID:9536098 11804710 ACTA1 actin alpha 1, skeletal muscle gene DOID:9008386 Hydrops Fetalis ISO RGD:737580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868 11804710 ACTA1 actin alpha 1, skeletal muscle gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11804721 SNX27 sorting nexin 27 gene DOID:0080422 Dravet syndrome ISO RGD:1349647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:17576681|PMID:25894286|PMID:28492532|PMID:31957018|PMID:9536098 11804721 SNX27 sorting nexin 27 gene DOID:0111940 immunodeficiency 42 ISO RGD:1349647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11804721 SNX27 sorting nexin 27 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1349647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11804721 SNX27 sorting nexin 27 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1349647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11804721 SNX27 sorting nexin 27 gene DOID:1540 parathyroid carcinoma ISO RGD:1349647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11804721 SNX27 sorting nexin 27 gene DOID:5812 MHC class II deficiency ISO RGD:1349647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11804721 SNX27 sorting nexin 27 gene DOID:630 genetic disease ISO RGD:1349647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11804721 SNX27 sorting nexin 27 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11804737 LAX1 lymphocyte transmembrane adaptor 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606285 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11804737 LAX1 lymphocyte transmembrane adaptor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11804737 LAX1 lymphocyte transmembrane adaptor 1 gene DOID:630 genetic disease ISO RGD:1606285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804737 LAX1 lymphocyte transmembrane adaptor 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606285 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11804737 LAX1 lymphocyte transmembrane adaptor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11804766 OXSM 3-oxoacyl-ACP synthase, mitochondrial gene DOID:630 genetic disease ISO RGD:1603026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804779 PRRT1 proline rich transmembrane protein 1 gene DOID:0050553 JMP syndrome ISO RGD:1345386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11804779 PRRT1 proline rich transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:1345386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804787 CRACR2A calcium release activated channel regulator 2A gene DOID:630 genetic disease ISO RGD:1603191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804787 CRACR2A calcium release activated channel regulator 2A gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1603191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11804813 SLMAP sarcolemma associated protein gene DOID:0050451 Brugada syndrome ISO RGD:1317000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9536098 11804813 SLMAP sarcolemma associated protein gene DOID:0050451 Brugada syndrome ISO RGD:1317000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:28492532|PMID:30847666|PMID:9536098 11804813 SLMAP sarcolemma associated protein gene DOID:0060319 cardiac arrest ISO RGD:1317000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest 11804813 SLMAP sarcolemma associated protein gene DOID:13938 amenorrhea ISO RGD:1317000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11804813 SLMAP sarcolemma associated protein gene DOID:630 genetic disease ISO RGD:1317000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11804813 SLMAP sarcolemma associated protein gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1317000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 11804860 MMP12 matrix metallopeptidase 12 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1350336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 11804860 MMP12 matrix metallopeptidase 12 gene DOID:0080322 polycystic kidney disease ISO RGD:732694 D RGD:9068941 20200609 RGD PMID:18606867|REF_RGD_ID:7241222 11804860 MMP12 matrix metallopeptidase 12 gene DOID:1059 intellectual disability ISO RGD:1350336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11804860 MMP12 matrix metallopeptidase 12 gene DOID:10608 celiac disease ISO RGD:1350336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 11804860 MMP12 matrix metallopeptidase 12 gene DOID:10941 intracranial aneurysm no_association ISO RGD:1350336 D RGD:9068941 20200609 RGD PMID:11546917|REF_RGD_ID:1582365 11804860 MMP12 matrix metallopeptidase 12 gene DOID:10983 Alport syndrome ISO RGD:732694 D RGD:9068941 20200609 RGD PMID:16816359|REF_RGD_ID:7241212 11804860 MMP12 matrix metallopeptidase 12 gene DOID:12704 ataxia telangiectasia ISO RGD:1350336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11804860 MMP12 matrix metallopeptidase 12 gene DOID:13139 crescentic glomerulonephritis ISO RGD:620195 D RGD:9068941 20200609 RGD PMID:12626598|PMID:20488952|REF_RGD_ID:2325762|REF_RGD_ID:737630 11804860 MMP12 matrix metallopeptidase 12 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1350336 D RGD:9068941 20200609 RGD protein:decreased expression:aorta (human) PMID:16820601|REF_RGD_ID:1582351 11804860 MMP12 matrix metallopeptidase 12 gene DOID:14323 Marfan syndrome ISO RGD:1350336 D RGD:9068941 20200609 RGD associated with thoracic aortic aneurysm;protein:increased expression:aorta (human) PMID:16820601|REF_RGD_ID:1582351 11804860 MMP12 matrix metallopeptidase 12 gene DOID:2349 arteriosclerosis ISO RGD:1350336 D RGD:9068941 20200609 RGD PMID:15073384|REF_RGD_ID:1582361 11804860 MMP12 matrix metallopeptidase 12 gene DOID:2349 arteriosclerosis ISO RGD:732694 D RGD:9068941 20200609 RGD PMID:16221765|REF_RGD_ID:1582354 11804860 MMP12 matrix metallopeptidase 12 gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1350336 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-82A>G (human) PMID:19628284|REF_RGD_ID:13204795 11804860 MMP12 matrix metallopeptidase 12 gene DOID:3362 coronary aneurysm susceptibility ISO RGD:1350336 D RGD:9068941 20200609 RGD PMID:12103254|REF_RGD_ID:1582363 11804860 MMP12 matrix metallopeptidase 12 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1350336 D RGD:9068941 20200609 RGD PMID:10807873|REF_RGD_ID:1582366 11804860 MMP12 matrix metallopeptidase 12 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1350336 D RGD:9068941 20200609 RGD PMID:11576837|REF_RGD_ID:2290421 11804860 MMP12 matrix metallopeptidase 12 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:620195 D RGD:9068941 20200609 RGD PMID:21894146|REF_RGD_ID:6218988 11804860 MMP12 matrix metallopeptidase 12 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1350336 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-82A>G rs2276109 (human) PMID:19321798|REF_RGD_ID:7207058 11804860 MMP12 matrix metallopeptidase 12 gene DOID:630 genetic disease ISO RGD:1350336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804860 MMP12 matrix metallopeptidase 12 gene DOID:7148 rheumatoid arthritis ISO RGD:1350336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 11804860 MMP12 matrix metallopeptidase 12 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1350336 D RGD:9068941 20200609 RGD PMID:16115023|REF_RGD_ID:1582355 11804860 MMP12 matrix metallopeptidase 12 gene DOID:7693 abdominal aortic aneurysm no_association ISO RGD:1350336 D RGD:9068941 20200609 RGD PMID:16082623|REF_RGD_ID:1582356 11804860 MMP12 matrix metallopeptidase 12 gene DOID:820 myocarditis ISO RGD:732694 D RGD:9068941 20200609 RGD PMID:16533694|REF_RGD_ID:1582352 11804860 MMP12 matrix metallopeptidase 12 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1350336 D RGD:9068941 20200609 RGD PMID:21277817|REF_RGD_ID:7241216 11804860 MMP12 matrix metallopeptidase 12 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:620195 D RGD:9068941 20200609 RGD PMID:12783419|REF_RGD_ID:1582362 11804860 MMP12 matrix metallopeptidase 12 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:732694 D RGD:9068941 20200609 RGD PMID:15654856|REF_RGD_ID:1582358 11804860 MMP12 matrix metallopeptidase 12 gene DOID:9002928 Colonic Neoplasms ISO RGD:1350336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 11804860 MMP12 matrix metallopeptidase 12 gene DOID:9003281 Spontaneous Abortions ISO RGD:1350336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11804860 MMP12 matrix metallopeptidase 12 gene DOID:9004657 Weight Gain ISO RGD:1350336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11804860 MMP12 matrix metallopeptidase 12 gene DOID:9007096 Stroke ISO RGD:1350336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 11804860 MMP12 matrix metallopeptidase 12 gene DOID:9206 Barrett's esophagus ISO RGD:1350336 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-82A>G rs2276109 (human) PMID:19321798|REF_RGD_ID:7207058 11804860 MMP12 matrix metallopeptidase 12 gene DOID:9675 pulmonary emphysema ISO RGD:1350336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12634787|PMID:25106431 11804874 HASPIN histone H3 associated protein kinase gene DOID:3613 Canavan disease ISO RGD:1353091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:28492532|PMID:7668285 11804874 HASPIN histone H3 associated protein kinase gene DOID:630 genetic disease ISO RGD:1353091 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804897 TUBB4B tubulin beta 4B class IVb gene DOID:0050777 Joubert syndrome ISO RGD:1601774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11804897 TUBB4B tubulin beta 4B class IVb gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1601774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 11804897 TUBB4B tubulin beta 4B class IVb gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1601774 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 11804897 TUBB4B tubulin beta 4B class IVb gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1601774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11804897 TUBB4B tubulin beta 4B class IVb gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1601774 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11804897 TUBB4B tubulin beta 4B class IVb gene DOID:0081097 Rafiq syndrome ISO RGD:1601774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11804897 TUBB4B tubulin beta 4B class IVb gene DOID:0112240 Leber congenital amaurosis with early-onset deafness ISO RGD:1601774 D RGD:7240710 20190315 OMIM 11804897 TUBB4B tubulin beta 4B class IVb gene DOID:0112240 Leber congenital amaurosis with early-onset deafness ISO RGD:1601774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis with early-onset deafness PMID:25741868|PMID:29198720 11804897 TUBB4B tubulin beta 4B class IVb gene DOID:1826 epilepsy ISO RGD:1601774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11804897 TUBB4B tubulin beta 4B class IVb gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1601774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11804897 TUBB4B tubulin beta 4B class IVb gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1601774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11804921 CXHXorf51B chromosome X CXorf51B homolog gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:5508282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11804921 CXHXorf51B chromosome X CXorf51B homolog gene DOID:12849 autistic disorder ISO RGD:5508282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11804928 CLEC4G C-type lectin domain family 4 member G gene DOID:0080490 mucolipidosis type IV ISO RGD:1354383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11804928 CLEC4G C-type lectin domain family 4 member G gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1354383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 11804928 CLEC4G C-type lectin domain family 4 member G gene DOID:630 genetic disease ISO RGD:1354383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804928 CLEC4G C-type lectin domain family 4 member G gene DOID:684 hepatocellular carcinoma ISO RGD:1354383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11804943 ENO1 enolase 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:735808 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11804943 ENO1 enolase 1 gene DOID:0080600 COVID-19 ISO RGD:735808 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11804943 ENO1 enolase 1 gene DOID:10652 Alzheimer's disease ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19374891 11804943 ENO1 enolase 1 gene DOID:10652 Alzheimer's disease ISO RGD:735808 D RGD:9068941 20200609 RGD protein:increased S-glutathionylation, decreased activity:inferior parietal cortex PMID:17387692|REF_RGD_ID:13792613 11804943 ENO1 enolase 1 gene DOID:10763 hypertension ISO RGD:2553 D RGD:9068941 20200609 RGD PMID:16485256|REF_RGD_ID:1598909 11804943 ENO1 enolase 1 gene DOID:11476 osteoporosis ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 11804943 ENO1 enolase 1 gene DOID:12336 male infertility ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27460355 11804943 ENO1 enolase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 11804943 ENO1 enolase 1 gene DOID:299 adenocarcinoma ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 11804943 ENO1 enolase 1 gene DOID:305 carcinoma ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11804943 ENO1 enolase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 11804943 ENO1 enolase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893|PMID:27602772 11804943 ENO1 enolase 1 gene DOID:630 genetic disease ISO RGD:735808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804943 ENO1 enolase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11804943 ENO1 enolase 1 gene DOID:7148 rheumatoid arthritis ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19898480 11804943 ENO1 enolase 1 gene DOID:8398 osteoarthritis ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11804943 ENO1 enolase 1 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 11804943 ENO1 enolase 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 11804943 ENO1 enolase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 11804943 ENO1 enolase 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11804943 ENO1 enolase 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 11804943 ENO1 enolase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11804943 ENO1 enolase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15654357 11804943 ENO1 enolase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11804943 ENO1 enolase 1 gene DOID:9006205 Animal Disease Models ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11804943 ENO1 enolase 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 11804943 ENO1 enolase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942|PMID:25231249 11804943 ENO1 enolase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19655245 11804977 LOC100969871 olfactory receptor 1L3 gene DOID:630 genetic disease ISO RGD:1342778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804982 PTBP1 polypyrimidine tract binding protein 1 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:732339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 11804982 PTBP1 polypyrimidine tract binding protein 1 gene DOID:305 carcinoma ISO RGD:732339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11804982 PTBP1 polypyrimidine tract binding protein 1 gene DOID:3347 osteosarcoma ISO RGD:732339 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34508303 11804982 PTBP1 polypyrimidine tract binding protein 1 gene DOID:5339 cyclic hematopoiesis ISO RGD:732339 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11804982 PTBP1 polypyrimidine tract binding protein 1 gene DOID:630 genetic disease ISO RGD:732339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11804982 PTBP1 polypyrimidine tract binding protein 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:732339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11804982 PTBP1 polypyrimidine tract binding protein 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11805000 DISP2 dispatched RND transporter family member 2 gene DOID:2717 Bloom syndrome ISO RGD:1319977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11805000 DISP2 dispatched RND transporter family member 2 gene DOID:630 genetic disease ISO RGD:1319977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805000 DISP2 dispatched RND transporter family member 2 gene DOID:9256 colorectal cancer ISO RGD:1319977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11805025 RBKS ribokinase gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1320751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11805025 RBKS ribokinase gene DOID:630 genetic disease ISO RGD:1320751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805049 BMT2 base methyltransferase of 25S rRNA 2 homolog gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11805049 BMT2 base methyltransferase of 25S rRNA 2 homolog gene DOID:630 genetic disease ISO RGD:1606951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805049 BMT2 base methyltransferase of 25S rRNA 2 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11805058 LCMT2 leucine carboxyl methyltransferase 2 gene DOID:2717 Bloom syndrome ISO RGD:1314097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11805058 LCMT2 leucine carboxyl methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1314097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805058 LCMT2 leucine carboxyl methyltransferase 2 gene DOID:9256 colorectal cancer ISO RGD:1314097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11805064 PCNT pericentrin gene DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II ISO RGD:1317411 D RGD:7240710 20230420 OMIM 11805064 PCNT pericentrin gene DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II ISO RGD:1317411 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II PMID:12210304|PMID:15372530|PMID:16199547|PMID:17576681|PMID:18157127|PMID:18174396|PMID:18414213|PMID:19448849|PMID:19643772|PMID:19839044|PMID:19937158|PMID:21195721|PMID:21567919|PMID:22821869|PMID:23033978|PMID:24033266|PMID:24928221|PMID:25326635|PMID:25363768|PMID:25741868|PMID:27124789|PMID:27323140|PMID:27900370|PMID:28492532|PMID:30214071|PMID:30922925|PMID:32267100|PMID:32818659|PMID:9536098 11805064 PCNT pericentrin gene DOID:0070007 Seckel syndrome 1 ISO RGD:1317411 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:18157127 11805064 PCNT pericentrin gene DOID:0070013 Seckel syndrome 2 ISO RGD:1317411 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:18174396 11805064 PCNT pericentrin gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1317411 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11805064 PCNT pericentrin gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1317411 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 11805064 PCNT pericentrin gene DOID:0110266 cataract 9 multiple types ISO RGD:1317411 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11805064 PCNT pericentrin gene DOID:1059 intellectual disability ISO RGD:1317411 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23033978|PMID:25741868|PMID:28492532 11805064 PCNT pericentrin gene DOID:10907 microcephaly ISO RGD:1317411 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11805064 PCNT pericentrin gene DOID:11372 megacolon ISO RGD:1317411 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11805064 PCNT pericentrin gene DOID:12849 autistic disorder ISO RGD:1317411 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11805064 PCNT pericentrin gene DOID:14250 Down syndrome ISO RGD:1317411 D RGD:9068941 20230427 RGD PMID:22552340|PMID:23979692|REF_RGD_ID:11537399|REF_RGD_ID:11537404 11805064 PCNT pericentrin gene DOID:630 genetic disease ISO RGD:1317411 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 11805064 PCNT pericentrin gene DOID:8725 vascular dementia ISO RGD:1317411 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 11805064 PCNT pericentrin gene DOID:891 progressive myoclonus epilepsy ISO RGD:1317411 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11805064 PCNT pericentrin gene DOID:9002954 Microcephalic Osteodysplastic Primordial Dwarfism ISO RGD:1317411 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism PMID:18414213|PMID:28492532 11805064 PCNT pericentrin gene DOID:9008086 Developmental Disabilities ISO RGD:1317411 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 11805064 PCNT pericentrin gene DOID:9263 homocystinuria ISO RGD:1317411 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11805064 PCNT pericentrin gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317411 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11805130 KLF10 KLF transcription factor 10 gene DOID:0111590 Cohen syndrome ISO RGD:1348365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 11805130 KLF10 KLF transcription factor 10 gene DOID:630 genetic disease ISO RGD:1348365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11805142 IRF3 interferon regulatory factor 3 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1344104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11805142 IRF3 interferon regulatory factor 3 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1344104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 11805142 IRF3 interferon regulatory factor 3 gene DOID:2841 asthma ISO RGD:1558245 D RGD:9068941 20200609 RGD PMID:20673978|REF_RGD_ID:5128793 11805142 IRF3 interferon regulatory factor 3 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1344104 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26861016 11805142 IRF3 interferon regulatory factor 3 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1344104 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 11805142 IRF3 interferon regulatory factor 3 gene DOID:630 genetic disease ISO RGD:1344104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805142 IRF3 interferon regulatory factor 3 gene DOID:874 bacterial pneumonia ISO RGD:1558245 D RGD:9068941 20200609 RGD PMID:20720199|REF_RGD_ID:4891951 11805142 IRF3 interferon regulatory factor 3 gene DOID:9000840 Herpes Simplex Encephalitis 7 susceptibility ISO RGD:1344104 D RGD:7240710 20190502 OMIM 11805142 IRF3 interferon regulatory factor 3 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:1344104 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11805142 IRF3 interferon regulatory factor 3 gene DOID:9008680 Respiratory Tract Infections ISO RGD:1558245 D RGD:9068941 20200609 RGD PMID:17027894|REF_RGD_ID:5128795 11805185 PLB1 phospholipase B1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1346755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11805185 PLB1 phospholipase B1 gene DOID:10283 prostate cancer ISO RGD:1346755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11805185 PLB1 phospholipase B1 gene DOID:630 genetic disease ISO RGD:1346755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805185 PLB1 phospholipase B1 gene DOID:7148 rheumatoid arthritis ISO RGD:1346755 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24520335 11805249 DAZL deleted in azoospermia like gene DOID:0060417 3p deletion syndrome ISO RGD:1352695 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 11805249 DAZL deleted in azoospermia like gene DOID:630 genetic disease ISO RGD:1352695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805249 DAZL deleted in azoospermia like gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1352695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23666240 11805268 TREM2 triggering receptor expressed on myeloid cells 2 gene DOID:0050444 infantile Refsum disease ISO RGD:1320401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11805268 TREM2 triggering receptor expressed on myeloid cells 2 gene DOID:0090112 Nasu-Hakola disease ISO RGD:1320401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 PMID:12080485|PMID:12754369|PMID:12883936|PMID:12925681|PMID:15883308|PMID:18546367|PMID:21834902|PMID:23150934|PMID:23318515|PMID:23399524|PMID:23582655|PMID:24899047|PMID:24990881|PMID:25615530|PMID:25741868|PMID:27995897|PMID:28492532|PMID:28559417|PMID:28768830|PMID:29142083|PMID:29557178 11805268 TREM2 triggering receptor expressed on myeloid cells 2 gene DOID:10652 Alzheimer's disease ISO RGD:1320401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24663666|PMID:28714976 11805268 TREM2 triggering receptor expressed on myeloid cells 2 gene DOID:1307 dementia ISO RGD:1320401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18546367 11805268 TREM2 triggering receptor expressed on myeloid cells 2 gene DOID:4166 syphilis ISO RGD:1320401 D RGD:9068941 20210618 RGD associated with age;protein:increased expression:CSF (human) PMID:32117023|REF_RGD_ID:127285386 11805268 TREM2 triggering receptor expressed on myeloid cells 2 gene DOID:630 genetic disease ISO RGD:1320401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25886450|PMID:27589997|PMID:28492532|PMID:28620717|PMID:32638105 11805268 TREM2 triggering receptor expressed on myeloid cells 2 gene DOID:9001414 Neurosyphilis disease_progression ISO RGD:1320401 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:32117023|REF_RGD_ID:127285386 11805268 TREM2 triggering receptor expressed on myeloid cells 2 gene DOID:9003895 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 ISO RGD:1320401 D RGD:7240710 20190315 OMIM 11805268 TREM2 triggering receptor expressed on myeloid cells 2 gene DOID:9003895 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 ISO RGD:1320401 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 PMID:12080485|PMID:12754369|PMID:12883936|PMID:12925681|PMID:15883308|PMID:19019460|PMID:21834902|PMID:23150934|PMID:23318515|PMID:23399524|PMID:23582655|PMID:24119542|PMID:24139279|PMID:24685331|PMID:24899047|PMID:25186855|PMID:25615530|PMID:25741868|PMID:25886450|PMID:27067662|PMID:27084067|PMID:27589997|PMID:27995897|PMID:28376694|PMID:28492532|PMID:28620717|PMID:28768830|PMID:29142083|PMID:29723869|PMID:31217084|PMID:32319261|PMID:32638105|PMID:6681564 11805268 TREM2 triggering receptor expressed on myeloid cells 2 gene DOID:905 Zellweger syndrome ISO RGD:1320401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11805268 TREM2 triggering receptor expressed on myeloid cells 2 gene DOID:9255 frontotemporal dementia ISO RGD:1320401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:23582655|PMID:24119542|PMID:25186855|PMID:25741868|PMID:28492532|PMID:29723869 11805280 PFKFB4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 gene DOID:630 genetic disease ISO RGD:1344643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805280 PFKFB4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1344643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11805280 PFKFB4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1344643 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11805323 LOC100978707 olfactory receptor 52M1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1349652 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11805323 LOC100978707 olfactory receptor 52M1 gene DOID:630 genetic disease ISO RGD:1349652 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805326 SRRT serrate, RNA effector molecule gene DOID:3068 glioblastoma ISO RGD:1604811 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30542699 11805326 SRRT serrate, RNA effector molecule gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11805326 SRRT serrate, RNA effector molecule gene DOID:630 genetic disease ISO RGD:1604811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805359 VPS54 VPS54 subunit of GARP complex gene DOID:0050591 tooth agenesis ISO RGD:1350552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tooth agenesis 11805359 VPS54 VPS54 subunit of GARP complex gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1553179 D RGD:9068941 20220825 MouseDO OMIM:105400 11805359 VPS54 VPS54 subunit of GARP complex gene DOID:13137 Werdnig-Hoffmann disease ISO RGD:1553179 D RGD:9068941 20220825 MouseDO OMIM:253300 11805359 VPS54 VPS54 subunit of GARP complex gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1350552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11805359 VPS54 VPS54 subunit of GARP complex gene DOID:630 genetic disease ISO RGD:1350552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805359 VPS54 VPS54 subunit of GARP complex gene DOID:9002955 Nerve Degeneration ISO RGD:1350552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19693665 11805387 UROS uroporphyrinogen III synthase gene DOID:13271 cutaneous porphyria ISO RGD:1321278 D RGD:7240710 20180130 OMIM 11805387 UROS uroporphyrinogen III synthase gene DOID:13271 cutaneous porphyria ISO RGD:1321278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous porphyria PMID:11254675|PMID:12060141|PMID:15065102|PMID:15304101|PMID:16365260|PMID:16532394|PMID:1733834|PMID:1737856|PMID:19099412|PMID:19965637|PMID:21343304|PMID:21365124|PMID:21570665|PMID:21631301|PMID:22816431|PMID:2331520|PMID:23557135|PMID:23626549|PMID:25092523|PMID:25741868|PMID:27859603|PMID:28492532|PMID:30685241|PMID:30706587|PMID:31843562|PMID:34828434|PMID:7616657|PMID:7860775|PMID:8821859|PMID:8829650|PMID:8946173|PMID:9188670|PMID:9803266|PMID:9834209 11805387 UROS uroporphyrinogen III synthase gene DOID:13271 cutaneous porphyria susceptibility ISO RGD:1310396 D RGD:9068941 20200609 RGD DNA:missense mutations,SNP,deletion:cds,introns:multiple PMID:30454868|REF_RGD_ID:18937001 11805387 UROS uroporphyrinogen III synthase gene DOID:13271 cutaneous porphyria susceptibility ISO RGD:1321278 D RGD:9068941 20200609 RGD DNA:missense mutations,SNP,deletion:cds,introns:multiple PMID:30454868|REF_RGD_ID:18937001 11805387 UROS uroporphyrinogen III synthase gene DOID:13271 cutaneous porphyria susceptibility ISO RGD:1321279 D RGD:9068941 20200609 RGD DNA:missense mutations,SNP,deletion:cds,introns:multiple PMID:30454868|REF_RGD_ID:18937001 11805387 UROS uroporphyrinogen III synthase gene DOID:630 genetic disease ISO RGD:1321278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805417 C11H11orf97 chromosome 11 C11orf97 homolog gene DOID:630 genetic disease ISO RGD:7821812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805425 APH1A aph-1 homolog A, gamma-secretase subunit gene DOID:0111940 immunodeficiency 42 ISO RGD:1349695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11805425 APH1A aph-1 homolog A, gamma-secretase subunit gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1349695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11805425 APH1A aph-1 homolog A, gamma-secretase subunit gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1349695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11805425 APH1A aph-1 homolog A, gamma-secretase subunit gene DOID:10652 Alzheimer's disease treatment ISO RGD:1550286 D RGD:9068941 20200609 RGD PMID:28588301|PMID:29926633|REF_RGD_ID:13703122|REF_RGD_ID:13703123 11805425 APH1A aph-1 homolog A, gamma-secretase subunit gene DOID:1540 parathyroid carcinoma ISO RGD:1349695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11805425 APH1A aph-1 homolog A, gamma-secretase subunit gene DOID:5812 MHC class II deficiency ISO RGD:1349695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11805425 APH1A aph-1 homolog A, gamma-secretase subunit gene DOID:630 genetic disease ISO RGD:1349695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805425 APH1A aph-1 homolog A, gamma-secretase subunit gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11805444 TMPRSS11E transmembrane serine protease 11E gene DOID:630 genetic disease ISO RGD:1606302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805444 TMPRSS11E transmembrane serine protease 11E gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1606302 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11805458 DCAF10 DDB1 and CUL4 associated factor 10 gene DOID:630 genetic disease ISO RGD:1352348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805479 NKIRAS2 NFKB inhibitor interacting Ras like 2 gene DOID:0080600 COVID-19 ISO RGD:1316518 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11805479 NKIRAS2 NFKB inhibitor interacting Ras like 2 gene DOID:630 genetic disease ISO RGD:1316518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805502 MARS2 methionyl-tRNA synthetase 2, mitochondrial gene DOID:0050942 spastic ataxia 3 ISO RGD:1349073 D RGD:7240710 20180130 OMIM 11805502 MARS2 methionyl-tRNA synthetase 2, mitochondrial gene DOID:0050942 spastic ataxia 3 ISO RGD:1349073 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spastic ataxia 3 PMID:22448145|PMID:25741868|PMID:28492532 11805502 MARS2 methionyl-tRNA synthetase 2, mitochondrial gene DOID:0111468 combined oxidative phosphorylation deficiency 25 ISO RGD:1349073 D RGD:7240710 20180130 OMIM 11805502 MARS2 methionyl-tRNA synthetase 2, mitochondrial gene DOID:0111468 combined oxidative phosphorylation deficiency 25 ISO RGD:1349073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 25 PMID:25741868|PMID:25754315 11805502 MARS2 methionyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1349073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11805502 MARS2 methionyl-tRNA synthetase 2, mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11805507 CPED1 cadherin like and PC-esterase domain containing 1 gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1605333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23349890 11805507 CPED1 cadherin like and PC-esterase domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11805507 CPED1 cadherin like and PC-esterase domain containing 1 gene DOID:630 genetic disease ISO RGD:1605333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805534 DMXL2 Dmx like 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1347338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11805534 DMXL2 Dmx like 2 gene DOID:0080267 autosomal dominant nonsyndromic deafness 71 ISO RGD:1347338 D RGD:7240710 20190315 OMIM 11805534 DMXL2 Dmx like 2 gene DOID:0080267 autosomal dominant nonsyndromic deafness 71 ISO RGD:1347338 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 71 PMID:25741868|PMID:27657680|PMID:28492532|PMID:33715530|PMID:35802133|PMID:36633841 11805534 DMXL2 Dmx like 2 gene DOID:0112217 developmental and epileptic encephalopathy 81 ISO RGD:1347338 D RGD:7240710 20191211 OMIM 11805534 DMXL2 Dmx like 2 gene DOID:0112217 developmental and epileptic encephalopathy 81 ISO RGD:1347338 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 81 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81 PMID:25741868|PMID:28492532|PMID:30237576|PMID:31688942 11805534 DMXL2 Dmx like 2 gene DOID:13938 amenorrhea ISO RGD:1347338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:28492532|PMID:32870266 11805534 DMXL2 Dmx like 2 gene DOID:2717 Bloom syndrome ISO RGD:1347338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11805534 DMXL2 Dmx like 2 gene DOID:607 paraplegia ISO RGD:1347338 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 11805534 DMXL2 Dmx like 2 gene DOID:630 genetic disease ISO RGD:1347338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11805534 DMXL2 Dmx like 2 gene DOID:9004244 Polyendocrine-Polyneuropathy Syndrome ISO RGD:1347338 D RGD:7240710 20180130 OMIM 11805534 DMXL2 Dmx like 2 gene DOID:9004244 Polyendocrine-Polyneuropathy Syndrome ISO RGD:1347338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyendocrine-polyneuropathy syndrome PMID:25248098|PMID:25741868|PMID:28492532 11805534 DMXL2 Dmx like 2 gene DOID:9004538 Hearing Loss ISO RGD:1347338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 11805534 DMXL2 Dmx like 2 gene DOID:9007428 Muscle Spasticity ISO RGD:1347338 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Spasticity PMID:25741868|PMID:28492532 11805534 DMXL2 Dmx like 2 gene DOID:9256 colorectal cancer ISO RGD:1347338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11805594 ZZEF1 zinc finger ZZ-type and EF-hand domain containing 1 gene DOID:630 genetic disease ISO RGD:1322516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805654 ZBTB11 zinc finger and BTB domain containing 11 gene DOID:0081230 autosomal recessive intellectual developmental disorder 69 ISO RGD:1317955 D RGD:7240710 20190424 OMIM 11805654 ZBTB11 zinc finger and BTB domain containing 11 gene DOID:0081230 autosomal recessive intellectual developmental disorder 69 ISO RGD:1317955 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 69 PMID:25741868|PMID:29893856|PMID:35104841|PMID:7586637 11805654 ZBTB11 zinc finger and BTB domain containing 11 gene DOID:630 genetic disease ISO RGD:1317955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805654 ZBTB11 zinc finger and BTB domain containing 11 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11805670 FIBP FGF1 intracellular binding protein gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1353732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 11805670 FIBP FGF1 intracellular binding protein gene DOID:1059 intellectual disability ISO RGD:1353732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11805670 FIBP FGF1 intracellular binding protein gene DOID:12270 coloboma ISO RGD:1353732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coloboma of eye PMID:26660953 11805670 FIBP FGF1 intracellular binding protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11805670 FIBP FGF1 intracellular binding protein gene DOID:2746 glycogen storage disease V ISO RGD:1353732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11805670 FIBP FGF1 intracellular binding protein gene DOID:630 genetic disease ISO RGD:1353732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805670 FIBP FGF1 intracellular binding protein gene DOID:8927 learning disability ISO RGD:1353732 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Learning disability PMID:26660953 11805670 FIBP FGF1 intracellular binding protein gene DOID:9001487 Facies ISO RGD:1353732 D RGD:8554872 20221018 ClinVar ClinVar Annotator: match by term: facial dysmorphism PMID:26660953 11805670 FIBP FGF1 intracellular binding protein gene DOID:9003816 Macrocephaly ISO RGD:1353732 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:26660953 11805670 FIBP FGF1 intracellular binding protein gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1353732 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11805670 FIBP FGF1 intracellular binding protein gene DOID:9007012 THAUVIN-ROBINET-FAIVRE SYNDROME ISO RGD:1353732 D RGD:7240710 20190315 OMIM 11805670 FIBP FGF1 intracellular binding protein gene DOID:9007012 THAUVIN-ROBINET-FAIVRE SYNDROME ISO RGD:1353732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thauvin-Robinet-Faivre syndrome PMID:25741868|PMID:26660953|PMID:27183861 11805670 FIBP FGF1 intracellular binding protein gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1353732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11805686 LOC100990437 NADPH--cytochrome P450 reductase gene DOID:0050462 Antley-Bixler syndrome with disordered steroidogenesis ISO RGD:68468 D RGD:7240710 20180130 OMIM 11805686 LOC100990437 NADPH--cytochrome P450 reductase gene DOID:0050462 Antley-Bixler syndrome with disordered steroidogenesis ISO RGD:68468 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | ClinVar Annotator: match by term: POR Deficiency PMID:12116245|PMID:14513299|PMID:14758361|PMID:15220035|PMID:15264278|PMID:15483095|PMID:15793702|PMID:16199547|PMID:16470797|PMID:17576681|PMID:18230729|PMID:18551037|PMID:18559916|PMID:19837910|PMID:20124576|PMID:20188793|PMID:20410220|PMID:20732302|PMID:20940534|PMID:21070833|PMID:21741353|PMID:22162478|PMID:22252407|PMID:22547083|PMID:23878291|PMID:24847272|PMID:25741868|PMID:26670660|PMID:27068427|PMID:28492532|PMID:28841001|PMID:31598952|PMID:31837199|PMID:32242900|PMID:33666875|PMID:33864926|PMID:34009138|PMID:9360545|PMID:9536098 11805686 LOC100990437 NADPH--cytochrome P450 reductase gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:68468 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia PMID:14758361|PMID:15220035|PMID:15350602|PMID:15793702|PMID:17635179|PMID:18551037|PMID:18930113|PMID:19837910|PMID:20410220|PMID:20732302|PMID:21741353|PMID:22162478|PMID:22462747|PMID:23365120|PMID:25741868|PMID:27068427|PMID:28492532|PMID:33864926 11805686 LOC100990437 NADPH--cytochrome P450 reductase gene DOID:0080074 neural tube defect ISO RGD:68469 D RGD:9068941 20200609 RGD PMID:11742006|REF_RGD_ID:4889811 11805686 LOC100990437 NADPH--cytochrome P450 reductase gene DOID:0080925 cytochrome P450 oxidoreductase deficiency ISO RGD:68468 D RGD:7240710 20210505 OMIM 11805686 LOC100990437 NADPH--cytochrome P450 reductase gene DOID:0080925 cytochrome P450 oxidoreductase deficiency ISO RGD:68468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | ClinVar Annotator: match by term: Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency PMID:12116245|PMID:14758361|PMID:15220035|PMID:15264278|PMID:15350602|PMID:15483095|PMID:15793702|PMID:16199547|PMID:16467261|PMID:16470797|PMID:17576681|PMID:17635179|PMID:17827787|PMID:18230729|PMID:18433346|PMID:18551037|PMID:18559916|PMID:18930113|PMID:19837910|PMID:20124576|PMID:20188793|PMID:20732302|PMID:20940534|PMID:21070833|PMID:21084761|PMID:21741353|PMID:21843508|PMID:22162478|PMID:22252407|PMID:22462747|PMID:22547083|PMID:22719896|PMID:23353702|PMID:23365120|PMID:23878291|PMID:24847272|PMID:25712184|PMID:25741868|PMID:26670660|PMID:27068427|PMID:27376429|PMID:28492532|PMID:28731962|PMID:28841001|PMID:29168297|PMID:31598952|PMID:31669572|PMID:32242900|PMID:33666875|PMID:34009138|PMID:9360545|PMID:9536098 11805686 LOC100990437 NADPH--cytochrome P450 reductase gene DOID:0081289 Antley-Bixler syndrome ISO RGD:68468 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: POR Deficiency PMID:12116245|PMID:14758361|PMID:15220035|PMID:15793702|PMID:18551037|PMID:20188793|PMID:20940534|PMID:21741353|PMID:22162478|PMID:25741868|PMID:27068427|PMID:28492532 11805686 LOC100990437 NADPH--cytochrome P450 reductase gene DOID:0081290 Antley-Bixler syndrome without disordered steroidogenesis ISO RGD:68468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11805686 LOC100990437 NADPH--cytochrome P450 reductase gene DOID:10487 Hirschsprung's disease ISO RGD:68468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 11805686 LOC100990437 NADPH--cytochrome P450 reductase gene DOID:11054 urinary bladder cancer ISO RGD:68468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8631603 11805686 LOC100990437 NADPH--cytochrome P450 reductase gene DOID:13938 amenorrhea ISO RGD:68468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14758361 11805686 LOC100990437 NADPH--cytochrome P450 reductase gene DOID:1923 disorder of sexual development ISO RGD:68468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ambiguous genitalia | ClinVar Annotator: match by term: Disorder of sexual differentiation PMID:25741868|PMID:28492532 11805686 LOC100990437 NADPH--cytochrome P450 reductase gene DOID:3071 gliosarcoma ISO RGD:68468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9766669 11805686 LOC100990437 NADPH--cytochrome P450 reductase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:68468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11805686 LOC100990437 NADPH--cytochrome P450 reductase gene DOID:5426 primary ovarian insufficiency ISO RGD:68468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11805686 LOC100990437 NADPH--cytochrome P450 reductase gene DOID:6000 congestive heart failure ISO RGD:68468 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 11805686 LOC100990437 NADPH--cytochrome P450 reductase gene DOID:630 genetic disease ISO RGD:68468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11805686 LOC100990437 NADPH--cytochrome P450 reductase gene DOID:8927 learning disability ISO RGD:68468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21987461 11805686 LOC100990437 NADPH--cytochrome P450 reductase gene DOID:9000310 Lung Injury ISO RGD:68468 D RGD:9068941 20210312 CTD CTD Direct Evidence: therapeutic PMID:33033841 11805686 LOC100990437 NADPH--cytochrome P450 reductase gene DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency ISO RGD:68468 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency PMID:21070833|PMID:24847272|PMID:25741868|PMID:27068427|PMID:27376429|PMID:28492532|PMID:33666875 11805686 LOC100990437 NADPH--cytochrome P450 reductase gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:68468 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 11805686 LOC100990437 NADPH--cytochrome P450 reductase gene DOID:9005004 Musculoskeletal Abnormalities ISO RGD:68468 D RGD:9068941 20200609 RGD Antley-Bixler syndrome, OMIM:124015; DNA:mutations:cds:multiple (human) PMID:15793702|REF_RGD_ID:1599697 11805686 LOC100990437 NADPH--cytochrome P450 reductase gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:68468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 11805686 LOC100990437 NADPH--cytochrome P450 reductase gene DOID:9006024 Hypotension ISO RGD:68335 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:15942020|REF_RGD_ID:1625563 11805686 LOC100990437 NADPH--cytochrome P450 reductase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:68468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15089088 11805715 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:0060041 autism spectrum disorder ISO RGD:1320604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11805715 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:1622851 D RGD:9068941 20220825 MouseDO 11805715 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1320604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25205402|PMID:25741868|PMID:28505103 11805715 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:0070056 autosomal dominant intellectual developmental disorder 26 ISO RGD:1320604 D RGD:7240710 20190315 OMIM 11805715 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:0070056 autosomal dominant intellectual developmental disorder 26 ISO RGD:1320604 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder due to AUTS2 deficiency PMID:21680558|PMID:21681106|PMID:22872102|PMID:23332918|PMID:25205402|PMID:25741868|PMID:25741869|PMID:27075013|PMID:28492532|PMID:33562463 11805715 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1320604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 11805715 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:0080600 COVID-19 ISO RGD:1320604 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11805715 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:1059 intellectual disability ISO RGD:1320604 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:29758562 11805715 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:12849 autistic disorder ISO RGD:1320604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25205402|PMID:25741868|PMID:28505103 11805715 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:1826 epilepsy ISO RGD:1320604 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20502679 11805715 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1320604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pierre Robin-like syndrome 11805715 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11805715 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:630 genetic disease ISO RGD:1320604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25533962|PMID:25741868|PMID:27075013|PMID:28191890|PMID:28492532|PMID:33562463 11805715 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:9001153 FG Syndrome 4 ISO RGD:1320604 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: FG syndrome 4 PMID:25741868|PMID:28492532 11805715 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1320604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:31474318 11805715 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320604 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868|PMID:28492532|PMID:33562463 11805715 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:9005747 Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability ISO RGD:1320604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability PMID:23332918 11805715 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:9008086 Developmental Disabilities ISO RGD:1320604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11805715 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:9008582 Developmental Disease ISO RGD:1320604 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11805715 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:9009194 Autosomal Dominant Intellectual Developmental Disorder 57 ISO RGD:1320604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 57 PMID:25205402|PMID:25741868|PMID:27075013|PMID:28492532|PMID:31785789 11805715 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1320604 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 11805738 RARRES1 retinoic acid receptor responder 1 gene DOID:0050873 follicular lymphoma ISO RGD:1551283 D RGD:9068941 20220825 MouseDO OMIM:151430 11805738 RARRES1 retinoic acid receptor responder 1 gene DOID:630 genetic disease ISO RGD:1319886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805738 RARRES1 retinoic acid receptor responder 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1319886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16134180 11805738 RARRES1 retinoic acid receptor responder 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11805748 HOXB2 homeobox B2 gene DOID:630 genetic disease ISO RGD:1320419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805754 UBXN1 UBX domain protein 1 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1606294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:28492532 11805754 UBXN1 UBX domain protein 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11805754 UBXN1 UBX domain protein 1 gene DOID:1059 intellectual disability ISO RGD:1606294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11805754 UBXN1 UBX domain protein 1 gene DOID:630 genetic disease ISO RGD:1606294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805754 UBXN1 UBX domain protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1606294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11805754 UBXN1 UBX domain protein 1 gene DOID:9000918 Disease Progression ISO RGD:1606294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11805770 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:0050742 nicotine dependence ISO RGD:734445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20372150 11805770 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:0050742 nicotine dependence severity ISO RGD:734445 D RGD:9068941 20211203 RGD associated with smoking; DNA:SNP::rs16969968 (human) PMID:29993116|REF_RGD_ID:150526806 11805770 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:0050742 nicotine dependence susceptibility ISO RGD:734445 D RGD:9068941 20211203 RGD DNA:SNP: :rs16969968(human) PMID:19706762|REF_RGD_ID:150524362 11805770 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:0050742 nicotine dependence susceptibility ISO RGD:734445 D RGD:9068941 20211203 RGD DNA:SNP:intron:rs17486278(human) PMID:20587604|REF_RGD_ID:150527839 11805770 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:0060001 withdrawal disorder ISO RGD:734445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18184829 11805770 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:1324 lung cancer ISO RGD:734445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung cancer susceptibility 2 PMID:18385738|PMID:18385739|PMID:18618000|PMID:19132693|PMID:19443489|PMID:19706762|PMID:20485328|PMID:20643934|PMID:20840187|PMID:20886544|PMID:21418140|PMID:22046326|PMID:22648373|PMID:22992668|PMID:24733007|PMID:27355804|PMID:29196725|PMID:29621993|PMID:29666375|PMID:30453884|PMID:31402126|PMID:31796940 11805770 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:1324 lung cancer susceptibility ISO RGD:734445 D RGD:7240710 20230505 OMIM 11805770 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:1574 alcohol use disorder ISO RGD:734445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18414406 11805770 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:1749 squamous cell carcinoma ISO RGD:734445 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 11805770 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:2030 anxiety disorder ISO RGD:734445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19220484|PMID:29944862 11805770 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:2717 Bloom syndrome ISO RGD:734445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11805770 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:303 substance-related disorder ISO RGD:734445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20438829 11805770 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:734445 D RGD:9068941 20211203 RGD associated with lung cancer; DNA:SNP::rs16969968 (human) PMID:33419953|REF_RGD_ID:150524357 11805770 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:734445 D RGD:9068941 20211203 RGD associated with smoking; DNA:SNP::rs16969968 (human) PMID:29993116|REF_RGD_ID:150526806 11805770 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:734445 D RGD:9068941 20220224 RGD mRNA:increased expression:esophagus (human) PMID:27610024|REF_RGD_ID:151361143 11805770 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:734445 D RGD:9068941 20211203 RGD DNA:SNP: :rs667282(human) PMID:23844051|REF_RGD_ID:150524358 11805770 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3907 lung squamous cell carcinoma ISO RGD:734445 D RGD:9068941 20211203 RGD mRNA:increased expression:lung PMID:20124469|REF_RGD_ID:150527851 11805770 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:734445 D RGD:9068941 20211203 RGD DNA:SNP: :rs503464(human) PMID:23314339|REF_RGD_ID:150527849 11805770 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:734445 D RGD:9068941 20211203 RGD DNA:SNP: :rs667282(human) PMID:27050379|REF_RGD_ID:150527847 11805770 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3910 lung adenocarcinoma ISO RGD:734445 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 11805770 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:734445 D RGD:9068941 20211203 RGD DNA:SNP:cds: p.D398N(human) PMID:19577767|REF_RGD_ID:150524359 11805770 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:734445 D RGD:9068941 20211203 RGD DNA:SNP: :rs503464(human) PMID:23314339|REF_RGD_ID:150527849 11805770 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:734445 D RGD:9068941 20211203 RGD associated with smoking; DNA:SNPs: :rs2036527, rs684513, rs667282(human) PMID:20554942|REF_RGD_ID:150527848 11805770 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:4556 lung large cell carcinoma ISO RGD:734445 D RGD:9068941 20211203 RGD mRNA:increased expression:lung PMID:20124469|REF_RGD_ID:150527851 11805770 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:5409 lung small cell carcinoma ISO RGD:734445 D RGD:9068941 20211203 RGD mRNA:increased expression:lung PMID:20124469|REF_RGD_ID:150527851 11805770 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:630 genetic disease ISO RGD:734445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805770 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:809 cocaine abuse onset ISO RGD:734445 D RGD:9068941 20211210 RGD DNA:SNP:exon:rs16969968(human) PMID:32841724|REF_RGD_ID:150530292 11805770 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2347 D RGD:9068941 20211210 RGD protein:increased expression:spinal nerve PMID:15652389|REF_RGD_ID:150530460 11805770 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:9001310 Tobacco Use Disorder ISO RGD:734445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18414406|PMID:18519132|PMID:28472521 11805770 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:9002211 Hyperalgesia ameliorates ISO RGD:2347 D RGD:9068941 20211210 RGD PMID:15652389|REF_RGD_ID:150530460 11805770 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:9005172 Lung Neoplasms ISO RGD:734445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18385738 11805770 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:9256 colorectal cancer ISO RGD:734445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11805770 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:734445 D RGD:9068941 20211203 RGD DNA:SNP: :rs3841324(human) PMID:25329654|REF_RGD_ID:150527838 11805780 ANKRD34A ankyrin repeat domain 34A gene DOID:0111027 hemochromatosis type 2A ISO RGD:1347090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 2A PMID:28492532 11805780 ANKRD34A ankyrin repeat domain 34A gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1347090 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 11805780 ANKRD34A ankyrin repeat domain 34A gene DOID:1540 parathyroid carcinoma ISO RGD:1347090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11805780 ANKRD34A ankyrin repeat domain 34A gene DOID:5419 schizophrenia ISO RGD:1347090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11805780 ANKRD34A ankyrin repeat domain 34A gene DOID:630 genetic disease ISO RGD:1347090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805780 ANKRD34A ankyrin repeat domain 34A gene DOID:9008939 Breast Neoplasms ISO RGD:1347090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 11805780 ANKRD34A ankyrin repeat domain 34A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11805786 CCL15 C-C motif chemokine ligand 15 gene DOID:0060496 respiratory allergy ISO RGD:1553178 D RGD:9068941 20210625 CTD CTD Direct Evidence: marker/mechanism PMID:17085522 11805786 CCL15 C-C motif chemokine ligand 15 gene DOID:182 calcinosis ISO RGD:1553178 D RGD:9068941 20210625 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11805786 CCL15 C-C motif chemokine ligand 15 gene DOID:4079 heart valve disease ISO RGD:1553178 D RGD:9068941 20210625 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11805786 CCL15 C-C motif chemokine ligand 15 gene DOID:630 genetic disease ISO RGD:1321539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805786 CCL15 C-C motif chemokine ligand 15 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1553178 D RGD:9068941 20210625 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11805803 NDUFAB1 NADH:ubiquinone oxidoreductase subunit AB1 gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:1313754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:28492532 11805803 NDUFAB1 NADH:ubiquinone oxidoreductase subunit AB1 gene DOID:630 genetic disease ISO RGD:1313754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805803 NDUFAB1 NADH:ubiquinone oxidoreductase subunit AB1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1313754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:17200668|PMID:17200671|PMID:19609323|PMID:28492532 11805812 TMEM131L transmembrane 131 like gene DOID:630 genetic disease ISO RGD:1604047 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805866 LOC103785741 zinc finger protein 324A gene DOID:630 genetic disease ISO RGD:1315356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805893 CAPSL calcyphosine like gene DOID:630 genetic disease ISO RGD:1601932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805893 CAPSL calcyphosine like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11805905 HSPB3 heat shock protein family B (small) member 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:68484 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:25741868|PMID:32323160 11805905 HSPB3 heat shock protein family B (small) member 3 gene DOID:0111200 distal hereditary motor neuronopathy type 1 ISO RGD:68484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor 11805905 HSPB3 heat shock protein family B (small) member 3 gene DOID:0111209 distal hereditary motor neuronopathy type 2C ISO RGD:68484 D RGD:7240710 20180130 OMIM 11805905 HSPB3 heat shock protein family B (small) member 3 gene DOID:0111209 distal hereditary motor neuronopathy type 2C ISO RGD:68484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2C PMID:20142617|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32397312 11805905 HSPB3 heat shock protein family B (small) member 3 gene DOID:630 genetic disease ISO RGD:68484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805905 HSPB3 heat shock protein family B (small) member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11805910 LOC100985913 neuropeptide Y receptor type 4-2 gene DOID:5419 schizophrenia ISO RGD:731662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11805910 LOC100985913 neuropeptide Y receptor type 4-2 gene DOID:630 genetic disease ISO RGD:731662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805918 NCOA7 nuclear receptor coactivator 7 gene DOID:630 genetic disease ISO RGD:1603583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805918 NCOA7 nuclear receptor coactivator 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1603583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 11805953 AMZ2 archaelysin family metallopeptidase 2 gene DOID:630 genetic disease ISO RGD:1605392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805953 AMZ2 archaelysin family metallopeptidase 2 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:1605392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 11805982 LOC100968447 olfactory receptor 10H3 gene DOID:630 genetic disease ISO RGD:1348272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805985 RPF2 ribosome production factor 2 homolog gene DOID:630 genetic disease ISO RGD:1315787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11805999 SPRR1B small proline rich protein 1B gene DOID:0111940 immunodeficiency 42 ISO RGD:1323772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11805999 SPRR1B small proline rich protein 1B gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1323772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11805999 SPRR1B small proline rich protein 1B gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1323772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11805999 SPRR1B small proline rich protein 1B gene DOID:1540 parathyroid carcinoma ISO RGD:1323772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11805999 SPRR1B small proline rich protein 1B gene DOID:5812 MHC class II deficiency ISO RGD:1323772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11805999 SPRR1B small proline rich protein 1B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11806005 LOC100970874 cytochrome c oxidase assembly factor 3 homolog, mitochondrial gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1606307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:25604084 11806005 LOC100970874 cytochrome c oxidase assembly factor 3 homolog, mitochondrial gene DOID:630 genetic disease ISO RGD:1606307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11806005 LOC100970874 cytochrome c oxidase assembly factor 3 homolog, mitochondrial gene DOID:9008434 Mitochondrial Complex IV Deficiency, Nuclear Type 14 ISO RGD:1606307 D RGD:7240710 20201111 OMIM 11806011 TAFA4 TAFA chemokine like family member 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1345564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15818620 11806031 IL6R interleukin 6 receptor gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:736525 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21859801|REF_RGD_ID:10402826 11806031 IL6R interleukin 6 receptor gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:736525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11806031 IL6R interleukin 6 receptor gene DOID:0050847 sleep apnea ISO RGD:736525 D RGD:9068941 20200609 RGD PMID:16983050|REF_RGD_ID:5128666 11806031 IL6R interleukin 6 receptor gene DOID:0060257 dyschromatosis symmetrica hereditaria ISO RGD:736525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities PMID:22974014|PMID:28492532 11806031 IL6R interleukin 6 receptor gene DOID:0111940 immunodeficiency 42 ISO RGD:736525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11806031 IL6R interleukin 6 receptor gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:736525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11806031 IL6R interleukin 6 receptor gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:736525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 11806031 IL6R interleukin 6 receptor gene DOID:10534 stomach cancer ISO RGD:736525 D RGD:9068941 20200609 RGD DNA:SNP: :rs2228145 (human) PMID:28442395|REF_RGD_ID:14975291 11806031 IL6R interleukin 6 receptor gene DOID:10652 Alzheimer's disease ISO RGD:736525 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon:-530G>T, 48867A/>C (p.D358A, rs8192284) (human) PMID:20197062|REF_RGD_ID:10402810 11806031 IL6R interleukin 6 receptor gene DOID:10652 Alzheimer's disease ISO RGD:736525 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid, plasma PMID:12664314|REF_RGD_ID:10402808 11806031 IL6R interleukin 6 receptor gene DOID:10652 Alzheimer's disease no_association ISO RGD:736525 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-208G>A (rs4845617) (human) PMID:20197062|REF_RGD_ID:10402810 11806031 IL6R interleukin 6 receptor gene DOID:10763 hypertension severity ISO RGD:736525 D RGD:9068941 20200609 RGD Hypertension, Pregnancy-Induced;protein:increased expression:serum PMID:11778537|REF_RGD_ID:1625432 11806031 IL6R interleukin 6 receptor gene DOID:11446 sciatic neuropathy ISO RGD:2902 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion PMID:20519054|REF_RGD_ID:5128675 11806031 IL6R interleukin 6 receptor gene DOID:11476 osteoporosis ISO RGD:736525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15995586 11806031 IL6R interleukin 6 receptor gene DOID:11832 visual epilepsy ISO RGD:2902 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:12591161|REF_RGD_ID:1625441 11806031 IL6R interleukin 6 receptor gene DOID:12361 Graves' disease ISO RGD:736525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 11806031 IL6R interleukin 6 receptor gene DOID:12361 Graves' disease disease_progression ISO RGD:736525 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:12818091|REF_RGD_ID:7829750 11806031 IL6R interleukin 6 receptor gene DOID:12858 Huntington's disease treatment ISO RGD:736525 D RGD:9068941 20200609 RGD PMID:11860469|REF_RGD_ID:10402809 11806031 IL6R interleukin 6 receptor gene DOID:13141 uveitis ISO RGD:736525 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor: PMID:10420202|REF_RGD_ID:7829723 11806031 IL6R interleukin 6 receptor gene DOID:13207 proliferative diabetic retinopathy ISO RGD:736525 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17401618|REF_RGD_ID:10402814 11806031 IL6R interleukin 6 receptor gene DOID:1540 parathyroid carcinoma ISO RGD:736525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11806031 IL6R interleukin 6 receptor gene DOID:1596 depressive disorder ISO RGD:2902 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:23589140|REF_RGD_ID:10402829 11806031 IL6R interleukin 6 receptor gene DOID:2518 orchitis ISO RGD:2902 D RGD:9068941 20200609 RGD protein:increased expression:male germ cell PMID:16458979|REF_RGD_ID:1625434 11806031 IL6R interleukin 6 receptor gene DOID:2841 asthma ISO RGD:10803 D RGD:9068941 20200609 RGD PMID:17496315|PMID:21115736|REF_RGD_ID:5128630|REF_RGD_ID:5128662 11806031 IL6R interleukin 6 receptor gene DOID:2841 asthma ISO RGD:736525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29902480 11806031 IL6R interleukin 6 receptor gene DOID:2957 pulmonary tuberculosis ISO RGD:736525 D RGD:9068941 20200609 RGD protein:decreased expression:T cell PMID:20019339|REF_RGD_ID:5128632 11806031 IL6R interleukin 6 receptor gene DOID:3525 middle cerebral artery infarction ISO RGD:10803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21940958 11806031 IL6R interleukin 6 receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:736525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22552503 11806031 IL6R interleukin 6 receptor gene DOID:4450 renal cell carcinoma ISO RGD:736525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7834629 11806031 IL6R interleukin 6 receptor gene DOID:5419 schizophrenia ISO RGD:736525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8067274 11806031 IL6R interleukin 6 receptor gene DOID:5812 MHC class II deficiency ISO RGD:736525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11806031 IL6R interleukin 6 receptor gene DOID:5844 myocardial infarction ISO RGD:2902 D RGD:9068941 20200609 RGD PMID:12123772|REF_RGD_ID:1625444 11806031 IL6R interleukin 6 receptor gene DOID:6000 congestive heart failure ISO RGD:2902 D RGD:9068941 20200609 RGD protein:increased expression:paraventricular hypothalamic nucleus PMID:17095650|REF_RGD_ID:1625433 11806031 IL6R interleukin 6 receptor gene DOID:630 genetic disease ISO RGD:736525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11806031 IL6R interleukin 6 receptor gene DOID:7148 rheumatoid arthritis ISO RGD:736525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16729287|PMID:23143596 11806031 IL6R interleukin 6 receptor gene DOID:9000217 Stomach Neoplasms ISO RGD:736525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11806031 IL6R interleukin 6 receptor gene DOID:9000230 Hyper-IgE Recurrent Infection Syndrome 5 ISO RGD:736525 D RGD:7240710 20200812 OMIM 11806031 IL6R interleukin 6 receptor gene DOID:9000230 Hyper-IgE Recurrent Infection Syndrome 5 ISO RGD:736525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 5, autosomal recessive PMID:25741868|PMID:28492532|PMID:31235509|PMID:8467812 11806031 IL6R interleukin 6 receptor gene DOID:9000972 Fever ISO RGD:10803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25429137 11806031 IL6R interleukin 6 receptor gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2902 D RGD:9068941 20200609 RGD PMID:21492407|REF_RGD_ID:10402827 11806031 IL6R interleukin 6 receptor gene DOID:9002211 Hyperalgesia ISO RGD:2902 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal root ganglion PMID:23953943|REF_RGD_ID:10402830 11806031 IL6R interleukin 6 receptor gene DOID:9002765 Systemic Juvenile Rheumatoid Arthritis treatment ISO RGD:736525 D RGD:9068941 20200609 RGD PMID:18358927|REF_RGD_ID:10402823 11806031 IL6R interleukin 6 receptor gene DOID:9004009 Reperfusion Injury ISO RGD:10803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21940958 11806031 IL6R interleukin 6 receptor gene DOID:9004649 Heat Stroke ISO RGD:10803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 11806031 IL6R interleukin 6 receptor gene DOID:9004713 Acute-Phase Reaction ISO RGD:2902 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:2174054|REF_RGD_ID:729416 11806031 IL6R interleukin 6 receptor gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:736525 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.D358A PMID:16817825|REF_RGD_ID:1625430 11806031 IL6R interleukin 6 receptor gene DOID:9007355 Hashimoto Disease ISO RGD:736525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 11806031 IL6R interleukin 6 receptor gene DOID:9007692 Insulin Resistance ISO RGD:736525 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:14962155|REF_RGD_ID:1625431 11806031 IL6R interleukin 6 receptor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:736525 D RGD:9068941 20200609 RGD PMID:16056242|REF_RGD_ID:1625435 11806031 IL6R interleukin 6 receptor gene DOID:9008523 Subretinal Fibrosis treatment ISO RGD:10803 D RGD:9068941 20200609 RGD PMID:24790857|REF_RGD_ID:10402815 11806031 IL6R interleukin 6 receptor gene DOID:9008680 Respiratory Tract Infections ISO RGD:736525 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, exon:-183G>A (human) PMID:20951753|REF_RGD_ID:5128631 11806031 IL6R interleukin 6 receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11806031 IL6R interleukin 6 receptor gene DOID:9970 obesity ISO RGD:736525 D RGD:9068941 20200609 RGD DNA:SNP, haplotypes:promoter:-208G>A (rs4845617) (human) PMID:17984249|REF_RGD_ID:10402807 11806031 IL6R interleukin 6 receptor gene DOID:9970 obesity ISO RGD:736525 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17434052|REF_RGD_ID:1625429 11806031 IL6R interleukin 6 receptor gene DOID:9970 obesity susceptibility ISO RGD:736525 D RGD:9068941 20200609 RGD DNA:duplication PMID:12917504|REF_RGD_ID:1625428 11806031 IL6R interleukin 6 receptor gene DOID:9970 obesity susceptibility ISO RGD:736525 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.D358A PMID:16817825|REF_RGD_ID:1625430 11806045 RALY RALY heterogeneous nuclear ribonucleoprotein gene DOID:2843 long QT syndrome ISO RGD:1316295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11806045 RALY RALY heterogeneous nuclear ribonucleoprotein gene DOID:630 genetic disease ISO RGD:1316295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11806045 RALY RALY heterogeneous nuclear ribonucleoprotein gene DOID:670 amphetamine abuse ISO RGD:1316295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11806064 CCDC73 coiled-coil domain containing 73 gene DOID:1059 intellectual disability ISO RGD:1601781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11806064 CCDC73 coiled-coil domain containing 73 gene DOID:630 genetic disease ISO RGD:1601781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11806085 TMEM100 transmembrane protein 100 gene DOID:630 genetic disease ISO RGD:1602475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11806097 COLEC12 collectin subfamily member 12 gene DOID:12849 autistic disorder ISO RGD:1347237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11806097 COLEC12 collectin subfamily member 12 gene DOID:303 substance-related disorder ISO RGD:1347237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11806097 COLEC12 collectin subfamily member 12 gene DOID:630 genetic disease ISO RGD:1347237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11806097 COLEC12 collectin subfamily member 12 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11806097 COLEC12 collectin subfamily member 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11806115 NARS2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:0111474 combined oxidative phosphorylation deficiency 1 ISO RGD:1605947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 PMID:25741868 11806115 NARS2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:0111485 combined oxidative phosphorylation deficiency 24 ISO RGD:1605947 D RGD:7240710 20180130 OMIM 11806115 NARS2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:0111485 combined oxidative phosphorylation deficiency 24 ISO RGD:1605947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 24 PMID:22237560|PMID:25385316|PMID:25629079|PMID:25741868|PMID:25807530|PMID:26402642|PMID:26467025|PMID:28077841|PMID:28492532|PMID:30327238|PMID:31665838|PMID:34374940|PMID:35558980 11806115 NARS2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:0111641 autosomal recessive nonsyndromic deafness 94 ISO RGD:1605947 D RGD:7240710 20190626 OMIM 11806115 NARS2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:0111641 autosomal recessive nonsyndromic deafness 94 ISO RGD:1605947 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 94 | ClinVar Annotator: match by term: Deafness, autosomal recessive 94 PMID:25741868|PMID:25807530|PMID:28492532 11806115 NARS2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:10003 sensorineural hearing loss ISO RGD:1605947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 11806115 NARS2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:1059 intellectual disability ISO RGD:1605947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11806115 NARS2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1605947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11806115 NARS2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:700 mitochondrial metabolism disease ISO RGD:1605947 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial disease 11806137 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:14330 Parkinson's disease treatment ISO XCO:0000498, XCO:0000520 D RGD:9068941 20210305 RGD compared to wild-type and untreated PMID:29530712|REF_RGD_ID:40924655 11806137 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:1470 major depressive disorder ISO RGD:732751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29175309 11806137 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:1793 pancreatic cancer ISO RGD:732751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20660371 11806137 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:289 endometriosis ISO RGD:732751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 11806137 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:4783 mesangial proliferative glomerulonephritis ISO RGD:620029 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney PMID:16736195|REF_RGD_ID:14700866 11806137 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:557 kidney disease ISO RGD:732751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24722447 11806137 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:576 proteinuria ISO RGD:732751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24722447 11806137 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:630 genetic disease ISO RGD:732751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11806137 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:784 chronic kidney disease disease_progression ISO RGD:620029 D RGD:9068941 20200609 RGD PMID:24722447|REF_RGD_ID:12910103 11806137 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:620029 D RGD:9068941 20201211 RGD compared to FHH PMID:24722447|REF_RGD_ID:12910103 11806137 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:9001542 Albuminuria ISO RGD:620029 D RGD:9068941 20201211 RGD compared to FHH PMID:24722447|REF_RGD_ID:12910103 11806137 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:732752 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:22343121|REF_RGD_ID:14700869 11806137 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:9006223 Kidney Reperfusion Injury severity ISO RGD:732752 D RGD:9068941 20200609 RGD PMID:22343121|REF_RGD_ID:14700869 11806137 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:9006599 Hypertriglyceridemia ISO RGD:620029 D RGD:9068941 20201211 RGD compared to FHH PMID:24722447|REF_RGD_ID:12910103 11806137 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:732751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11806137 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:9007692 Insulin Resistance ISO RGD:732751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17785466 11806137 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:9008675 Dyskinesias treatment ISO XCO:0000498, XCO:0000520 D RGD:9068941 20210305 RGD compared to wild-type and untreated PMID:29530712|REF_RGD_ID:40924655 11806163 BANK1 B cell scaffold protein with ankyrin repeats 1 gene DOID:1580 diffuse scleroderma susceptibility ISO RGD:1342509 D RGD:9068941 20200609 RGD DNA:SNPs: :rs10516487,rs17266594,rs3733197(human) PMID:19815934|REF_RGD_ID:9684975 11806163 BANK1 B cell scaffold protein with ankyrin repeats 1 gene DOID:3633 beta-mannosidosis ISO RGD:1342509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 11806163 BANK1 B cell scaffold protein with ankyrin repeats 1 gene DOID:418 systemic scleroderma susceptibility ISO RGD:1342509 D RGD:9068941 20200609 RGD DNA:SNPs: :rs10516487,rs17266594(human) PMID:19815934|REF_RGD_ID:9684975 11806163 BANK1 B cell scaffold protein with ankyrin repeats 1 gene DOID:630 genetic disease ISO RGD:1342509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11806163 BANK1 B cell scaffold protein with ankyrin repeats 1 gene DOID:7188 autoimmune thyroiditis onset ISO RGD:1342509 D RGD:9068941 20200609 RGD DNA:SNP: :rs3733197(human) PMID:24127308|REF_RGD_ID:9684981 11806163 BANK1 B cell scaffold protein with ankyrin repeats 1 gene DOID:8893 psoriasis susceptibility ISO RGD:1342509 D RGD:9068941 20200609 RGD DNA:haplotype: : rs10516487, rs3733197, rs17266594(human) PMID:21989138|REF_RGD_ID:9684977 11806163 BANK1 B cell scaffold protein with ankyrin repeats 1 gene DOID:9007355 Hashimoto Disease susceptibility ISO RGD:1342509 D RGD:9068941 20200609 RGD DNA:SNP: :rs3733197(human) PMID:24127308|REF_RGD_ID:9684981 11806163 BANK1 B cell scaffold protein with ankyrin repeats 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1342509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Association with systemic lupus erythematosus | ClinVar Annotator: match by term: Systemic lupus erythematosus PMID:18204447 11806163 BANK1 B cell scaffold protein with ankyrin repeats 1 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1342509 D RGD:9068941 20200609 RGD DNA:SNPs:introns: PMID:18204447|REF_RGD_ID:9684976 11806163 BANK1 B cell scaffold protein with ankyrin repeats 1 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1342509 D RGD:9068941 20200609 RGD DNA:SNP: :rs3733197(human) PMID:24342660|REF_RGD_ID:9684973 11806184 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1322980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11806184 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:0050885 IMAGe syndrome ISO RGD:1322980 D RGD:7240710 20200610 OMIM 11806184 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:0050885 IMAGe syndrome ISO RGD:1322980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: IMAGe syndrome PMID:15769992|PMID:17576681|PMID:22634751|PMID:24065356|PMID:24098681|PMID:24313804|PMID:24624461|PMID:25057881|PMID:25262539|PMID:25614875|PMID:25741868|PMID:28492532|PMID:28546232|PMID:30374176|PMID:31630891|PMID:31976094|PMID:33076988|PMID:34098225|PMID:9536098 11806184 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:0080365 endometrial hyperplasia ISO RGD:1322980 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:22064387 11806184 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:0080600 COVID-19 ISO RGD:1322980 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11806184 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:0080773 delta beta-thalassemia ISO RGD:1322980 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11806184 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1322980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11806184 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:10591 pre-eclampsia ISO RGD:1322981 D RGD:9068941 20220825 MouseDO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 11806184 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:1324 lung cancer ISO RGD:727892 D RGD:9068941 20220707 RGD DNA:hypermethylation:promoter (rat) PMID:20512841|REF_RGD_ID:152998913 11806184 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:1324 lung cancer disease_progression ISO RGD:727892 D RGD:9068941 20220707 RGD protein:decreased expression:lung (rat) PMID:20512841|REF_RGD_ID:152998913 11806184 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1322980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11806184 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:1909 melanoma ISO RGD:1322980 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 11806184 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:2018 hyperinsulinism ISO RGD:1322980 D RGD:9068941 20200611 RGD DNA:loss of heterozygosity:pancreatic islet PMID:11723059|REF_RGD_ID:2311334 11806184 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:299 adenocarcinoma ISO RGD:1322980 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 11806184 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1322980 D RGD:7240710 20200610 OMIM 11806184 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1322980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome PMID:10323243|PMID:10424811|PMID:11106355|PMID:11414765|PMID:15150778|PMID:17576681|PMID:18395877|PMID:18414213|PMID:19386358|PMID:20503313|PMID:21910219|PMID:22634751|PMID:23197429|PMID:24033266|PMID:24065356|PMID:24098681|PMID:24313804|PMID:24624461|PMID:25427884|PMID:25741868|PMID:25861374|PMID:26061650|PMID:26077438|PMID:28492532|PMID:28546232|PMID:30374176|PMID:31630891|PMID:31804259|PMID:31976094|PMID:33076988|PMID:33443097|PMID:34065128|PMID:34098225|PMID:8841187|PMID:9341892|PMID:9536098 11806184 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1322980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome PMID:10323243|PMID:10424811|PMID:11106355|PMID:11414765|PMID:15150778|PMID:17576681|PMID:18395877|PMID:18414213|PMID:19386358|PMID:19843502|PMID:20503313|PMID:21910219|PMID:22634751|PMID:23197429|PMID:24033266|PMID:24065356|PMID:24098681|PMID:24313804|PMID:24624461|PMID:25427884|PMID:25741868|PMID:25861374|PMID:26061650|PMID:26077438|PMID:28492532|PMID:28546232|PMID:30374176|PMID:31630891|PMID:31804259|PMID:31976094|PMID:33076988|PMID:33443097|PMID:34065128|PMID:34098225|PMID:8841187|PMID:9341892|PMID:9536098 11806184 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:630 genetic disease ISO RGD:1322980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20503313|PMID:22634751|PMID:24098681|PMID:24313804|PMID:25741868|PMID:28492532|PMID:28546232|PMID:30374176|PMID:31630891|PMID:34098225|PMID:9536098 11806184 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:684 hepatocellular carcinoma severity ISO RGD:1322980 D RGD:9068941 20220707 RGD protein:decreased expression:liver (human) PMID:26606000|REF_RGD_ID:11354707 11806184 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:9000970 Focal Nodular Hyperplasia ISO RGD:727892 D RGD:9068941 20220708 RGD protein:increased expression:liver (rat) PMID:3965145|REF_RGD_ID:152998958 11806184 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:727892 D RGD:9068941 20220707 RGD protein:decreased expression:liver (rat) PMID:26606000|REF_RGD_ID:11354707 11806184 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:727892 D RGD:9068941 20220708 RGD protein:increased expression:liver (rat) PMID:3965145|REF_RGD_ID:152998958 11806184 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:9001586 Experimental Liver Neoplasms disease_progression ISO RGD:727892 D RGD:9068941 20220707 RGD mRNA:increased expression:liver (rat) PMID:19533683|REF_RGD_ID:2315050 11806184 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1322980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11806184 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:9005172 Lung Neoplasms ISO RGD:1322980 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:20512841|PMID:21552421 11806184 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:9007070 Silver-Russell Syndrome 1 ISO RGD:1322980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 1 PMID:24065356|PMID:24624461|PMID:28492532|PMID:31976094|PMID:33076988 11806184 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:9007715 Endometrial Neoplasms ISO RGD:1322980 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:22064387 11806192 FMR1NB FMR1 neighbor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11806192 FMR1NB FMR1 neighbor gene DOID:12849 autistic disorder ISO RGD:1346520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11806192 FMR1NB FMR1 neighbor gene DOID:630 genetic disease ISO RGD:1346520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11806210 LYZL4 lysozyme like 4 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1348547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 11806210 LYZL4 lysozyme like 4 gene DOID:630 genetic disease ISO RGD:1348547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11806227 INHBB inhibin subunit beta B gene DOID:0050328 congenital hypothyroidism ISO RGD:2913 D RGD:9068941 20200609 RGD mRNA:decreased expression:testes (rat) PMID:7819453|REF_RGD_ID:9743921 11806227 INHBB inhibin subunit beta B gene DOID:0111545 familial male-limited precocious puberty ISO RGD:735395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16684832 11806227 INHBB inhibin subunit beta B gene DOID:630 genetic disease ISO RGD:735395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11806227 INHBB inhibin subunit beta B gene DOID:9000774 Brain Death ISO RGD:2913 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:15808645|REF_RGD_ID:9743920 11806227 INHBB inhibin subunit beta B gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2913 D RGD:9068941 20230427 RGD protein:increased expression:serum (rat) PMID:27732750|REF_RGD_ID:329322881 11806232 PRDM8 PR/SET domain 8 gene DOID:0080600 COVID-19 ISO RGD:1323184 D RGD:9068941 20200702 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11806232 PRDM8 PR/SET domain 8 gene DOID:0111445 progressive myoclonus epilepsy 10 ISO RGD:1323184 D RGD:7240710 20180130 OMIM 11806232 PRDM8 PR/SET domain 8 gene DOID:0111445 progressive myoclonus epilepsy 10 ISO RGD:1323184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Lafora body disease PMID:22961547|PMID:25741868|PMID:28492532 11806232 PRDM8 PR/SET domain 8 gene DOID:630 genetic disease ISO RGD:1323184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11806232 PRDM8 PR/SET domain 8 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1323184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11806232 PRDM8 PR/SET domain 8 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1323184 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11806244 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:731754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 11806244 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0050742 nicotine dependence ISO RGD:731754 D RGD:7240710 20230505 OMIM 11806244 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0050742 nicotine dependence ISO RGD:731754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tobacco addiction, susceptibility to PMID:25741868|PMID:28492532 11806244 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0060041 autism spectrum disorder ISO RGD:731754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11806244 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0070073 autosomal dominant intellectual developmental disorder 43 ISO RGD:731754 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 43 PMID:25741868|PMID:28492532 11806244 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0080291 developmental and epileptic encephalopathy 59 ISO RGD:731754 D RGD:7240710 20230505 OMIM 11806244 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0080291 developmental and epileptic encephalopathy 59 ISO RGD:731754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 59 PMID:25262651|PMID:25741868|PMID:28492532|PMID:28856709|PMID:29100083|PMID:29369404|PMID:32860008|PMID:34008892 11806244 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:731754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 11806244 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:731754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 11806244 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:1059 intellectual disability ISO RGD:731754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11806244 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:1206 Rett syndrome ISO RGD:731754 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:25741868|PMID:26740508|PMID:27541642|PMID:28492532|PMID:28856709|PMID:29100083 11806244 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:12712 nephronophthisis ISO RGD:731754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 11806244 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:12849 autistic disorder ISO RGD:731754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19002745 11806244 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 11806244 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:1826 epilepsy ISO RGD:731754 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11806244 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:630 genetic disease ISO RGD:731754 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26740508|PMID:27541642|PMID:28492532|PMID:28856709|PMID:29100083 11806244 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:731754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:25741868|PMID:26740508|PMID:27541642|PMID:28492532|PMID:28856709|PMID:29100083|PMID:34055682|PMID:9536098 11806244 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:9009154 Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills ISO RGD:731754 D RGD:7240710 20230505 OMIM 11806244 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:9009154 Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills ISO RGD:731754 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor language and loss of hand skills PMID:25262651|PMID:25741868|PMID:26740508|PMID:27541642|PMID:28492532|PMID:28856709|PMID:29100083|PMID:29369404|PMID:34008892|PMID:35414446 11806266 FAM76A family with sequence similarity 76 member A gene DOID:630 genetic disease ISO RGD:1604511 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11806293 GHSR growth hormone secretagogue receptor gene DOID:0050848 obstructive sleep apnea ISO RGD:621397 D RGD:9068941 20200609 RGD protein:decreased expression:growth plate: PMID:26943473|REF_RGD_ID:11573409 11806293 GHSR growth hormone secretagogue receptor gene DOID:0060870 isolated growth hormone deficiency ISO RGD:621397 D RGD:9068941 20200609 RGD mRNA:increased expression:pituitary: PMID:9822798|REF_RGD_ID:12904721 11806293 GHSR growth hormone secretagogue receptor gene DOID:1062 Fanconi syndrome ISO RGD:730941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 11806293 GHSR growth hormone secretagogue receptor gene DOID:10763 hypertension ISO RGD:737310 D RGD:9068941 20200609 RGD associated with Obesity PMID:24760503|REF_RGD_ID:12910115 11806293 GHSR growth hormone secretagogue receptor gene DOID:1574 alcohol use disorder ISO RGD:730941 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23977009 11806293 GHSR growth hormone secretagogue receptor gene DOID:1824 status epilepticus ISO RGD:621397 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus: PMID:23129314|REF_RGD_ID:12907502 11806293 GHSR growth hormone secretagogue receptor gene DOID:224 transient cerebral ischemia ISO RGD:621397 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:brain: PMID:17560544|REF_RGD_ID:12907500 11806293 GHSR growth hormone secretagogue receptor gene DOID:3125 multiple endocrine neoplasia ISO RGD:621397 D RGD:9068941 20200609 RGD PMID:26512025|REF_RGD_ID:12904888 11806293 GHSR growth hormone secretagogue receptor gene DOID:3525 middle cerebral artery infarction ISO RGD:621397 D RGD:9068941 20200609 RGD PMID:19352052|REF_RGD_ID:9850083 11806293 GHSR growth hormone secretagogue receptor gene DOID:630 genetic disease ISO RGD:730941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14715843|PMID:16511605|PMID:17596538|PMID:17717076|PMID:19789204|PMID:21084395|PMID:25557026|PMID:25741868|PMID:28492532 11806293 GHSR growth hormone secretagogue receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:621397 D RGD:9068941 20200609 RGD PMID:25261791|REF_RGD_ID:12907564 11806293 GHSR growth hormone secretagogue receptor gene DOID:9002231 Fetal Growth Retardation disease_progression ISO RGD:621397 D RGD:9068941 20200609 RGD PMID:20637157|REF_RGD_ID:12904883 11806293 GHSR growth hormone secretagogue receptor gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:621397 D RGD:9068941 20200609 RGD PMID:21642627|REF_RGD_ID:12904963 11806293 GHSR growth hormone secretagogue receptor gene DOID:9003139 Cardiac Fibrosis ISO RGD:621397 D RGD:9068941 20200609 RGD mRNA,protein:increased expression,increased activity:myocardia: PMID:16626506|REF_RGD_ID:12907503 11806293 GHSR growth hormone secretagogue receptor gene DOID:9004351 Digestive System Neoplasms ISO RGD:730941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18064392 11806293 GHSR growth hormone secretagogue receptor gene DOID:9004484 Sepsis disease_progression ISO RGD:621397 D RGD:9068941 20200609 RGD PMID:15155262|REF_RGD_ID:12905047 11806293 GHSR growth hormone secretagogue receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621397 D RGD:9068941 20200609 RGD mRNA:increased expression:Arcuate nucleus : PMID:23965296|REF_RGD_ID:12905048 11806293 GHSR growth hormone secretagogue receptor gene DOID:9006324 Isolated Growth Hormone Deficiency, Partial ISO RGD:730941 D RGD:7240710 20200122 OMIM 11806293 GHSR growth hormone secretagogue receptor gene DOID:9006324 Isolated Growth Hormone Deficiency, Partial ISO RGD:730941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Short stature due to growth hormone secretagogue receptor deficiency PMID:14715843|PMID:16511605|PMID:17596538|PMID:17717076|PMID:19789204|PMID:21084395|PMID:21646290|PMID:24651458|PMID:25557026|PMID:25741868|PMID:26094658|PMID:28492532|PMID:31726455 11806293 GHSR growth hormone secretagogue receptor gene DOID:9007102 Myocardial Ischemia ISO RGD:621397 D RGD:9068941 20200609 RGD mRNA,protein:increased expression,increased activity:myocardia: PMID:16626506|REF_RGD_ID:12907503 11806293 GHSR growth hormone secretagogue receptor gene DOID:9007303 Idiopathic Short Stature, Autosomal ISO RGD:730941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature, idiopathic, autosomal 11806293 GHSR growth hormone secretagogue receptor gene DOID:9007661 Dwarfism ISO RGD:730941 D RGD:9068941 20200609 RGD PMID:7968381|REF_RGD_ID:12910126 11806293 GHSR growth hormone secretagogue receptor gene DOID:9007661 Dwarfism ISO RGD:730941 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:21084395|REF_RGD_ID:12904884 11806293 GHSR growth hormone secretagogue receptor gene DOID:9970 obesity ISO RGD:730941 D RGD:9068941 20200609 RGD DNA:point mutation:exon:F279L PMID:16511600|REF_RGD_ID:1625270 11806300 NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1603963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:18940309|PMID:21607760|PMID:23536703|PMID:25326635|PMID:25356970|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29261183|PMID:29581464|PMID:30473481|PMID:30581749|PMID:34177781 11806300 NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 gene DOID:0111754 Leber plus disease ISO RGD:1603963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber plus disease PMID:25741868 11806300 NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1603963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532|PMID:29261183|PMID:30473481 11806300 NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 gene DOID:0112096 nuclear type mitochondrial complex I deficiency 16 ISO RGD:1603963 D RGD:7240710 20190315 OMIM 11806300 NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 gene DOID:0112096 nuclear type mitochondrial complex I deficiency 16 ISO RGD:1603963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 PMID:17576681|PMID:18940309|PMID:19542079|PMID:21607760|PMID:23536703|PMID:25326635|PMID:25356970|PMID:25741868|PMID:26467025|PMID:28454995|PMID:28492532|PMID:29261183|PMID:29581464|PMID:30473481|PMID:30581749|PMID:31130284|PMID:34177781|PMID:34645488|PMID:9536098 11806300 NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 gene DOID:3652 Leigh disease ISO RGD:1603963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease PMID:17576681|PMID:25326635|PMID:25356970|PMID:25741868|PMID:26275793|PMID:28492532|PMID:29581464|PMID:30473481|PMID:30581749|PMID:32005694|PMID:32348839|PMID:32918965|PMID:34177781|PMID:9536098 11806300 NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 gene DOID:630 genetic disease ISO RGD:1603963 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25326635|PMID:25356970|PMID:25741868|PMID:28492532|PMID:29261183|PMID:29581464|PMID:30473481|PMID:30581749|PMID:34177781 11806300 NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1603963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:17576681|PMID:25326635|PMID:25356970|PMID:25741868|PMID:28492532|PMID:29581464|PMID:30473481|PMID:30581749|PMID:34177781|PMID:9536098 11806320 AK6 adenylate kinase 6 gene DOID:630 genetic disease ISO RGD:7382322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11806332 NOL4 nucleolar protein 4 gene DOID:1059 intellectual disability ISO RGD:1321698 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11806332 NOL4 nucleolar protein 4 gene DOID:630 genetic disease ISO RGD:1321698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11806372 RIDA reactive intermediate imine deaminase A homolog gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:70940 D RGD:9068941 20200609 RGD PMID:23075396|REF_RGD_ID:9685568 11806372 RIDA reactive intermediate imine deaminase A homolog gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:70940 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:12939504|REF_RGD_ID:9685719 11806372 RIDA reactive intermediate imine deaminase A homolog gene DOID:9004590 Acute Liver Failure ISO RGD:1343199 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 11806382 TBX22 T-box transcription factor 22 gene DOID:0060613 X-linked cleft palate with or without ankyloglossia ISO RGD:1343120 D RGD:7240710 20180130 OMIM 11806382 TBX22 T-box transcription factor 22 gene DOID:0060613 X-linked cleft palate with or without ankyloglossia ISO RGD:1343120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate with or without ankyloglossia, X-linked PMID:14729838|PMID:16247549|PMID:17868388|PMID:22784330|PMID:25741868|PMID:28492532|PMID:839509 11806382 TBX22 T-box transcription factor 22 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11806382 TBX22 T-box transcription factor 22 gene DOID:0111826 Abruzzo-Erickson syndrome ISO RGD:1343120 D RGD:7240710 20180130 OMIM 11806382 TBX22 T-box transcription factor 22 gene DOID:0111826 Abruzzo-Erickson syndrome ISO RGD:1343120 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abruzzo-Erickson syndrome PMID:22784330|PMID:25741868|PMID:839509 11806382 TBX22 T-box transcription factor 22 gene DOID:12849 autistic disorder ISO RGD:1343120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11806382 TBX22 T-box transcription factor 22 gene DOID:630 genetic disease ISO RGD:1343120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11806382 TBX22 T-box transcription factor 22 gene DOID:674 cleft palate ISO RGD:1343120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:25741868 11806382 TBX22 T-box transcription factor 22 gene DOID:9000786 Cleft Palate with Ankyloglossia ISO RGD:1343120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate with ankyloglossia PMID:11559848|PMID:12374769|PMID:14729838|PMID:22784330|PMID:2563678 11806410 NHSL2 NHS like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11806410 NHSL2 NHS like 2 gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:1603499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked PMID:26242992 11806410 NHSL2 NHS like 2 gene DOID:12849 autistic disorder ISO RGD:1603499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11806410 NHSL2 NHS like 2 gene DOID:630 genetic disease ISO RGD:1603499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11806419 DHRSX dehydrogenase/reductase X-linked gene DOID:12849 autistic disorder ISO RGD:1344855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11806429 KYAT3 kynurenine aminotransferase 3 gene DOID:630 genetic disease ISO RGD:1606260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11806451 MOB2 MOB kinase activator 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11806451 MOB2 MOB kinase activator 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1602095 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11806451 MOB2 MOB kinase activator 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:1602095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11806451 MOB2 MOB kinase activator 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11806451 MOB2 MOB kinase activator 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1602095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11806451 MOB2 MOB kinase activator 2 gene DOID:630 genetic disease ISO RGD:1602095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11806451 MOB2 MOB kinase activator 2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1602095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11806451 MOB2 MOB kinase activator 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1602095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11806506 INTS1 integrator complex subunit 1 gene DOID:0070346 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies ISO RGD:1606801 D RGD:7240710 20191016 OMIM 11806506 INTS1 integrator complex subunit 1 gene DOID:0070346 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies ISO RGD:1606801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies PMID:16199547|PMID:25741868|PMID:28492532|PMID:28542170|PMID:28763441|PMID:30622326|PMID:31428919 11806506 INTS1 integrator complex subunit 1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1606801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome 11806506 INTS1 integrator complex subunit 1 gene DOID:630 genetic disease ISO RGD:1606801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30622326 11806558 BCL9L BCL9 like gene DOID:0060017 CD3epsilon deficiency ISO RGD:1319242 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11806558 BCL9L BCL9 like gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1319242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11806558 BCL9L BCL9 like gene DOID:0080690 RASopathy ISO RGD:1319242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11806558 BCL9L BCL9 like gene DOID:0081330 glycogen storage disease Ib ISO RGD:1319242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 11806558 BCL9L BCL9 like gene DOID:0110651 long QT syndrome 10 ISO RGD:1319242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11806558 BCL9L BCL9 like gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1319242 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11806558 BCL9L BCL9 like gene DOID:0111971 immunodeficiency 18 ISO RGD:1319242 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11806558 BCL9L BCL9 like gene DOID:0111972 immunodeficiency 19 ISO RGD:1319242 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11806558 BCL9L BCL9 like gene DOID:0111973 immunodeficiency 17 ISO RGD:1319242 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11806558 BCL9L BCL9 like gene DOID:630 genetic disease ISO RGD:1319242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11806558 BCL9L BCL9 like gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1319242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11806558 BCL9L BCL9 like gene DOID:9007661 Dwarfism ISO RGD:1319242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11806571 ADRA2A adrenoceptor alpha 2A gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:737381 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 11806571 ADRA2A adrenoceptor alpha 2A gene DOID:10763 hypertension ISO RGD:2056 D RGD:9068941 20200609 RGD mRNA:decreased expression:adrenal gland medulla PMID:20691504|REF_RGD_ID:6480490 11806571 ADRA2A adrenoceptor alpha 2A gene DOID:10763 hypertension ISO RGD:737381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10694191 11806571 ADRA2A adrenoceptor alpha 2A gene DOID:10763 hypertension no_association ISO RGD:737381 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:16636200|REF_RGD_ID:1625183 11806571 ADRA2A adrenoceptor alpha 2A gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:737381 D RGD:9068941 20200609 RGD PMID:16178932|REF_RGD_ID:1559309 11806571 ADRA2A adrenoceptor alpha 2A gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:737381 D RGD:9068941 20200609 RGD DNA:polymorphism: :-1291C>G (human) PMID:19150055|REF_RGD_ID:6480484 11806571 ADRA2A adrenoceptor alpha 2A gene DOID:114 heart disease ISO RGD:737381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 11806571 ADRA2A adrenoceptor alpha 2A gene DOID:1596 depressive disorder ISO RGD:2056 D RGD:9068941 20200609 RGD PMID:20047711|REF_RGD_ID:6480482 11806571 ADRA2A adrenoceptor alpha 2A gene DOID:1826 epilepsy ISO RGD:737381 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17341653 11806571 ADRA2A adrenoceptor alpha 2A gene DOID:2030 anxiety disorder ISO RGD:2056 D RGD:9068941 20200609 RGD PMID:21669254|REF_RGD_ID:6480479 11806571 ADRA2A adrenoceptor alpha 2A gene DOID:594 panic disorder ISO RGD:737381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14656453 11806571 ADRA2A adrenoceptor alpha 2A gene DOID:630 genetic disease ISO RGD:737381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11806571 ADRA2A adrenoceptor alpha 2A gene DOID:9000784 Fibrosis ISO RGD:737381 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20083574 11806571 ADRA2A adrenoceptor alpha 2A gene DOID:9002211 Hyperalgesia ISO RGD:2056 D RGD:9068941 20200609 RGD PMID:17959985|REF_RGD_ID:6480488 11806571 ADRA2A adrenoceptor alpha 2A gene DOID:9003936 Cardiomegaly ISO RGD:737381 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20083574 11806571 ADRA2A adrenoceptor alpha 2A gene DOID:9004484 Sepsis disease_progression ISO RGD:2056 D RGD:9068941 20200609 RGD PMID:19894027|REF_RGD_ID:6480483 11806571 ADRA2A adrenoceptor alpha 2A gene DOID:9004610 Acute Lung Injury ISO RGD:2056 D RGD:9068941 20200609 RGD PMID:21542970|REF_RGD_ID:6480481 11806571 ADRA2A adrenoceptor alpha 2A gene DOID:9005930 Endotoxemia onset ISO RGD:2056 D RGD:9068941 20200609 RGD mRNA:increased expression:spleen PMID:20302880|REF_RGD_ID:6480487 11806571 ADRA2A adrenoceptor alpha 2A gene DOID:9005968 Neuralgia ISO RGD:2056 D RGD:9068941 20200609 RGD PMID:12946573|REF_RGD_ID:6893571 11806571 ADRA2A adrenoceptor alpha 2A gene DOID:9006024 Hypotension ISO RGD:737381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16595736|PMID:18849358 11806571 ADRA2A adrenoceptor alpha 2A gene DOID:9007428 Muscle Spasticity ISO RGD:2056 D RGD:9068941 20200609 RGD PMID:21871540|REF_RGD_ID:6480106 11806571 ADRA2A adrenoceptor alpha 2A gene DOID:9008820 Visceral Pain ISO RGD:2056 D RGD:9068941 20200609 RGD PMID:20047711|REF_RGD_ID:6480482 11806571 ADRA2A adrenoceptor alpha 2A gene DOID:9352 type 2 diabetes mellitus ISO RGD:2056 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreatic islet PMID:19965390|REF_RGD_ID:2316628 11806571 ADRA2A adrenoceptor alpha 2A gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737381 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:rs553668 (human) PMID:19965390|REF_RGD_ID:2316628 11806582 TCEAL7 transcription elongation factor A like 7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11806582 TCEAL7 transcription elongation factor A like 7 gene DOID:12849 autistic disorder ISO RGD:1347340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11806582 TCEAL7 transcription elongation factor A like 7 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1347340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:31690835 11806582 TCEAL7 transcription elongation factor A like 7 gene DOID:630 genetic disease ISO RGD:1347340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11806582 TCEAL7 transcription elongation factor A like 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 11806596 SMAD6 SMAD family member 6 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1312880 D RGD:9068941 20220624 RGD mRNA:decreased expression:blood plasma (human) PMID:31874165|REF_RGD_ID:152995482 11806596 SMAD6 SMAD family member 6 gene DOID:0070237 Loeys-Dietz syndrome 3 ISO RGD:1312880 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 PMID:28492532|PMID:30796334 11806596 SMAD6 SMAD family member 6 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:1312880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bicuspid aortic valve PMID:25741868|PMID:28492532 11806596 SMAD6 SMAD family member 6 gene DOID:0080333 aortic valve disease 1 ISO RGD:1312880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic valve disease 1 PMID:28492532|PMID:30796334 11806596 SMAD6 SMAD family member 6 gene DOID:0080334 aortic valve disease 2 ISO RGD:1312880 D RGD:7240710 20230517 OMIM 11806596 SMAD6 SMAD family member 6 gene DOID:0080334 aortic valve disease 2 ISO RGD:1312880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic valve disease 2 PMID:16199547|PMID:17576681|PMID:22275001|PMID:25741868|PMID:27606499|PMID:28492532|PMID:28659821|PMID:28808027|PMID:30056620|PMID:30796334|PMID:30848080|PMID:31138930|PMID:32005695|PMID:32499606|PMID:9536098 11806596 SMAD6 SMAD family member 6 gene DOID:0111004 Joubert syndrome 9 ISO RGD:1312880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 9 11806596 SMAD6 SMAD family member 6 gene DOID:10952 nephritis ISO RGD:1305069 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:11170839|REF_RGD_ID:2315074 11806596 SMAD6 SMAD family member 6 gene DOID:1148 polydactyly ISO RGD:1312880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 11806596 SMAD6 SMAD family member 6 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1312880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28492532|PMID:32748548 11806596 SMAD6 SMAD family member 6 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1312880 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11806596 SMAD6 SMAD family member 6 gene DOID:2340 craniosynostosis ISO RGD:1312880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11806596 SMAD6 SMAD family member 6 gene DOID:2717 Bloom syndrome ISO RGD:1312880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11806596 SMAD6 SMAD family member 6 gene DOID:630 genetic disease ISO RGD:1312880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11739411|PMID:25741868|PMID:27606499|PMID:28492532|PMID:30796334|PMID:30848080 11806596 SMAD6 SMAD family member 6 gene DOID:6432 pulmonary hypertension ISO RGD:1305069 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:17347486|REF_RGD_ID:1643222 11806596 SMAD6 SMAD family member 6 gene DOID:9000082 Craniosynostosis 7 ISO RGD:1312880 D RGD:7240710 20230517 OMIM 11806596 SMAD6 SMAD family member 6 gene DOID:9000082 Craniosynostosis 7 ISO RGD:1312880 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Craniosynostosis 7 PMID:22275001|PMID:25741868|PMID:27606499|PMID:28492532|PMID:28808027|PMID:32499606 11806596 SMAD6 SMAD family member 6 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1305069 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17437042|REF_RGD_ID:2289036 11806596 SMAD6 SMAD family member 6 gene DOID:9002589 Bone Fractures ISO RGD:1305069 D RGD:9068941 20200609 RGD PMID:11920662|REF_RGD_ID:724455 11806596 SMAD6 SMAD family member 6 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1312880 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:11078792|REF_RGD_ID:2300008 11806596 SMAD6 SMAD family member 6 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1312880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 11806596 SMAD6 SMAD family member 6 gene DOID:9256 colorectal cancer ISO RGD:1312880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11806596 SMAD6 SMAD family member 6 gene DOID:9827 radioulnar synostosis ISO RGD:1312880 D RGD:7240710 20230517 OMIM 11806596 SMAD6 SMAD family member 6 gene DOID:9827 radioulnar synostosis ISO RGD:1312880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Radioulnar synostosis | ClinVar Annotator: match by term: Radioulnar synostosis, nonsyndromic, susceptibility to PMID:25741868|PMID:27606499|PMID:28492532|PMID:28808027|PMID:30796334|PMID:30848080|PMID:31138930|PMID:32748548 11806604 SF1 splicing factor 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1346504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11806604 SF1 splicing factor 1 gene DOID:1059 intellectual disability ISO RGD:1346504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11806604 SF1 splicing factor 1 gene DOID:1909 melanoma ISO RGD:1346504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11806604 SF1 splicing factor 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1346504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11806604 SF1 splicing factor 1 gene DOID:2746 glycogen storage disease V ISO RGD:1346504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11806604 SF1 splicing factor 1 gene DOID:3070 high grade glioma ISO RGD:1346504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11806604 SF1 splicing factor 1 gene DOID:326 ischemia ISO RGD:620645 D RGD:9068941 20200609 RGD PMID:10103072|REF_RGD_ID:727772 11806604 SF1 splicing factor 1 gene DOID:630 genetic disease ISO RGD:1346504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11806604 SF1 splicing factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11806641 ZCCHC17 zinc finger CCHC-type containing 17 gene DOID:630 genetic disease ISO RGD:1604815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11806669 ANKRD13C ankyrin repeat domain 13C gene DOID:1059 intellectual disability ISO RGD:1604586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11806669 ANKRD13C ankyrin repeat domain 13C gene DOID:630 genetic disease ISO RGD:1604586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11806688 GJB2 gap junction protein beta 2 gene DOID:0050563 nonsyndromic deafness ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10980526|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11354642|PMID:11386851|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12081719|PMID:12111646|PMID:12112666|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12372058|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12668604|PMID:12684873|PMID:12700168|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12872268|PMID:12910486|PMID:14070830|PMID:14505035|PMID:14556203|PMID:14643477|PMID:14676473|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15146674|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15504600|PMID:15547422|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15757815|PMID:15790391|PMID:15832357|PMID:15841999|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:15996214|PMID:16059934|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16945493|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17331080|PMID:17357124|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17462767|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17567887|PMID:17567889|PMID:17576681|PMID:17581693|PMID:17660464|PMID:17661817|PMID:17666888|PMID:17671735|PMID:17935238|PMID:17993581|PMID:18294064|PMID:18414213|PMID:18451998|PMID:18472371|PMID:18560174|PMID:18570691|PMID:18649181|PMID:18668259|PMID:18684989|PMID:18776652|PMID:18793701|PMID:18804553|PMID:18924167|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19051073|PMID:19072567|PMID:19081147|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19274344|PMID:19283857|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19723508|PMID:19814620|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20096356|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20441744|PMID:20442751|PMID:20497192|PMID:20542681|PMID:20553101|PMID:20563649|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20890442|PMID:20937258|PMID:20956747|PMID:21040787|PMID:2104787|PMID:21094084|PMID:21094651|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21298213|PMID:21366436 11806688 GJB2 gap junction protein beta 2 gene DOID:0050563 nonsyndromic deafness ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:21388256|PMID:21392827|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21510145|PMID:21728791|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21868108|PMID:21910243|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22037723|PMID:22103400|PMID:22106692|PMID:22208444|PMID:22281373|PMID:22384008|PMID:22389666|PMID:22429511|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22567861|PMID:22574200|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22704424|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23328711|PMID:23451214|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23668481|PMID:23680645|PMID:23684175|PMID:23757202|PMID:23804846|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24078562|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24158896|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24387126|PMID:24507663|PMID:24529908|PMID:24596593|PMID:24611097|PMID:24645897|PMID:24654934|PMID:24706568|PMID:24737404|PMID:24762805|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25153233|PMID:25162826|PMID:25188385|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25288386|PMID:25326637|PMID:25388846|PMID:25401782|PMID:25555641|PMID:25560255|PMID:25587757|PMID:25625422|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25788563|PMID:25999548|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26186295|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26482070|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26769242|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26969326|PMID:26990548|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27316387|PMID:27398341|PMID:27466889|PMID:27481527|PMID:27501294|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27792752|PMID:27843504|PMID:27884173|PMID:27884957|PMID:28012523|PMID:28263784|PMID:28271504|PMID:28383030|PMID:28405014|PMID:28428247|PMID:28489599|PMID:28492532|PMID:29062245|PMID:29106882|PMID:29140768|PMID:29293505|PMID:29311818|PMID:29362677|PMID:29501291|PMID:29542069|PMID:2956987|PMID:29605365|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30168495|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30466042|PMID:30589569|PMID:30693673|PMID:30733538|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31162818|PMID:31163360|PMID:31195736|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31581539|PMID:31620696|PMID:31827275|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32455934|PMID:32645618|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33333757|PMID:33524517|PMID:33597575|PMID:34062854|PMID:34335733|PMID:34440441|PMID:35301649|PMID:35396755|PMID:6409293|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9716127|PMID:9819448|PMID:9856479 11806688 GJB2 gap junction protein beta 2 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:10204859|PMID:10218527|PMID:10376574|PMID:10422812|PMID:10477435|PMID:10508996|PMID:10544226|PMID:10607953|PMID:10633133|PMID:10713883|PMID:10751669|PMID:10782932|PMID:10980526|PMID:10982182|PMID:11313751|PMID:11313763|PMID:11354642|PMID:11386851|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551104|PMID:11556849|PMID:11668644|PMID:11698809|PMID:11807148|PMID:11935342|PMID:11968091|PMID:12081719|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:12239718|PMID:12372058|PMID:12522556|PMID:12668604|PMID:12684873|PMID:12700168|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:14070830|PMID:14643477|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14985372|PMID:14986832|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15151513|PMID:15219044|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15464308|PMID:15479191|PMID:15617550|PMID:15656949|PMID:15666300|PMID:15790391|PMID:15855033|PMID:15954104|PMID:15964725|PMID:15967879|PMID:15996214|PMID:16059934|PMID:16076412|PMID:16088916|PMID:16125251|PMID:16222667|PMID:16336662|PMID:16379542|PMID:16380907|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16868655|PMID:16945493|PMID:17146393|PMID:17253936|PMID:17406097|PMID:17428550|PMID:17462767|PMID:17553572|PMID:17576681|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18294064|PMID:18414213|PMID:18570691|PMID:18776652|PMID:18793701|PMID:18804553|PMID:18924167|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:19072567|PMID:19157576|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19715472|PMID:19814620|PMID:19925344|PMID:19929407|PMID:19929408|PMID:20022641|PMID:20073550|PMID:20086291|PMID:20096356|PMID:20201936|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20407643|PMID:20563649|PMID:20739944|PMID:20815033|PMID:20890442|PMID:21040787|PMID:2104787|PMID:21122151|PMID:21220926|PMID:21465647|PMID:21468573|PMID:21510145|PMID:21776002|PMID:21910243|PMID:22000900|PMID:22281373|PMID:22567152|PMID:22567369|PMID:22613756|PMID:22695344|PMID:22855627|PMID:22975760|PMID:22981120|PMID:22995991|PMID:23073770|PMID:23141775|PMID:23451214|PMID:23489192|PMID:23504403|PMID:23638949|PMID:23668481|PMID:23680645|PMID:23757202|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24158611|PMID:24346070|PMID:24387126|PMID:24529908|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25153233|PMID:25262649|PMID:25288386|PMID:25388846|PMID:25555641|PMID:25636251|PMID:25741868|PMID:25999548|PMID:26059209|PMID:26096904|PMID:26188157|PMID:26381000|PMID:26467025|PMID:26778469|PMID:26969326|PMID:2706105|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27316387|PMID:27481527|PMID:27843504|PMID:28492532|PMID:29062245|PMID:29362677|PMID:29501291|PMID:29921236|PMID:3|PMID:30086704|PMID:30094485|PMID:30303587|PMID:30311386|PMID:30431684|PMID:30872814|PMID:30989077|PMID:31346875|PMID:32747562|PMID:33524517|PMID:34440441|PMID:35396755|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9482292|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9819448|PMID:9856479 11806688 GJB2 gap junction protein beta 2 gene DOID:0050658 Bart-Pumphrey syndrome ISO RGD:1351211 D RGD:7240710 20180130 OMIM 11806688 GJB2 gap junction protein beta 2 gene DOID:0050658 Bart-Pumphrey syndrome ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bart-Pumphrey syndrome | ClinVar Annotator: match by term: KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12081719|PMID:12111646|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12673800|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15482471|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15790391|PMID:15832357|PMID:15855033|PMID:15937416|PMID:15952212|PMID:15954104|PMID:15964725|PMID:15967879|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17106596|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17431919|PMID:17444514|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17581693|PMID:17661817|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18570691|PMID:18668259|PMID:18684989|PMID:18776652|PMID:18804553|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20441744|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20607074|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20956747|PMID:20981092|PMID:21094084|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21738759|PMID:21776002|PMID:21777984 11806688 GJB2 gap junction protein beta 2 gene DOID:0050658 Bart-Pumphrey syndrome ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bart-Pumphrey syndrome | ClinVar Annotator: match by term: KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS PMID:21811586|PMID:21836520|PMID:21844220|PMID:21910243|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22016077|PMID:22037723|PMID:22106692|PMID:22281373|PMID:22384008|PMID:22429511|PMID:22450542|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22574200|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23328711|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23695287|PMID:23757202|PMID:23804846|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24611097|PMID:24645897|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25365227|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26482070|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27398341|PMID:27481527|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:27884957|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28271504|PMID:28383030|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30565282|PMID:30589569|PMID:30693673|PMID:30828346|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33928925|PMID:34062854|PMID:34335733|PMID:34440441|PMID:35396755|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9716127|PMID:9819448 11806688 GJB2 gap junction protein beta 2 gene DOID:0060578 Noonan syndrome 1 ISO RGD:1351211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:30311386 11806688 GJB2 gap junction protein beta 2 gene DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome ISO RGD:1351211 D RGD:7240710 20180130 OMIM 11806688 GJB2 gap junction protein beta 2 gene DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: KID syndrome | ClinVar Annotator: match by term: KID syndrome, autosomal dominant | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11918723|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12072059|PMID:12081719|PMID:12111646|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12548749|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12673800|PMID:12684873|PMID:12746422|PMID:12752120|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12872268|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14691997|PMID:14694360|PMID:14700667|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15633193|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15769851|PMID:15790391|PMID:15832357|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:16885744|PMID:1693158|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17330861|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17428836|PMID:17431919|PMID:17444514|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17581693|PMID:17660464|PMID:17661817|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18024254|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18570691|PMID:18668259|PMID:18684989|PMID:18776652|PMID:18804553|PMID:18843290|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20101161|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20412116|PMID:20441744|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20607074|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20956747|PMID:20981092|PMID:21094084|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395 11806688 GJB2 gap junction protein beta 2 gene DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: KID syndrome | ClinVar Annotator: match by term: KID syndrome, autosomal dominant | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant PMID:21220926|PMID:21281533|PMID:21287563|PMID:21292415|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21738759|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21836520|PMID:21844220|PMID:21910243|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22016077|PMID:22031297|PMID:22037723|PMID:22103400|PMID:22106692|PMID:22281373|PMID:22384008|PMID:22429511|PMID:22450542|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22574200|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23328711|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23695287|PMID:23757202|PMID:23797420|PMID:23804846|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23924173|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24611097|PMID:24645897|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25365227|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25575739|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26482070|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26763877|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27087580|PMID:27141831|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27398341|PMID:27481527|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27761313|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:27884957|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28271504|PMID:28383030|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30466042|PMID:30589569|PMID:30693673|PMID:30828346|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33928925|PMID:34008892|PMID:34062854|PMID:34335733|PMID:34440441|PMID:35396755|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9716127|PMID:9819448|PMID:9856479 11806688 GJB2 gap junction protein beta 2 gene DOID:0110253 cataract 14 multiple types ISO RGD:1351211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types PMID:28492532 11806688 GJB2 gap junction protein beta 2 gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:1351211 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:24367894|PMID:25741868 11806688 GJB2 gap junction protein beta 2 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1351211 D RGD:7240710 20180130 OMIM 11806688 GJB2 gap junction protein beta 2 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10369869|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10704187|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10980526|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11445873|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12081719|PMID:12111646|PMID:12112666|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12372058|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12457340|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12673800|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12872268|PMID:12885339|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14571368|PMID:14643477|PMID:14676473|PMID:14681040|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14978038|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15146674|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15603707|PMID:15617546|PMID:15617550|PMID:15633193|PMID:15638823|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15757815|PMID:15790391|PMID:15832357|PMID:15841999|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:15994881|PMID:15996214|PMID:16059934|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16645853|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:16885744|PMID:1693158|PMID:16931589|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17077310|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17309986|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17428836|PMID:17431919|PMID:17444514|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17567887|PMID:17567889|PMID:17576681|PMID:17581693|PMID:17660464|PMID:17661817|PMID:17666888|PMID:17671735|PMID:17935238|PMID:17993581|PMID:18024254|PMID:18196482|PMID:18294064|PMID:18316665|PMID:18324688|PMID:18353197|PMID:18414213|PMID:18451998|PMID:18472371|PMID:18519481|PMID:18560174|PMID:18570691|PMID:18580690|PMID:18607988|PMID:18649181|PMID:18668259|PMID:18684989|PMID:18688874|PMID:18758381|PMID:18776652|PMID:18804553|PMID:18809215|PMID:18837651|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:18990456|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19101659|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19283857|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19384972|PMID:19390476|PMID:19465004|PMID:19567088|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19877196|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641 11806688 GJB2 gap junction protein beta 2 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 PMID:20031451|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20096356|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20412116|PMID:20441744|PMID:20497192|PMID:20542681|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20601923|PMID:20607074|PMID:20639189|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20956747|PMID:20981092|PMID:21040787|PMID:2104787|PMID:21055240|PMID:21094084|PMID:21094651|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21292415|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21388256|PMID:21392827|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21557232|PMID:21728791|PMID:21738759|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21836520|PMID:21844220|PMID:21910243|PMID:21912263|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22016077|PMID:22031297|PMID:22037723|PMID:22103400|PMID:22106692|PMID:22208444|PMID:22281373|PMID:22384008|PMID:22389666|PMID:22429511|PMID:22450542|PMID:22484064|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22567861|PMID:22574200|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22704424|PMID:22747691|PMID:22785241|PMID:22787277|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23120683|PMID:23141775|PMID:23266159|PMID:23328711|PMID:23418865|PMID:23451214|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23684175|PMID:23695287|PMID:23751281|PMID:23757202|PMID:23804846|PMID:23812555|PMID:23826813|PMID:23856378|PMID:23873582|PMID:23900770|PMID:23967136|PMID:23967202|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24078562|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24158896|PMID:24224790|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24372583|PMID:24503448|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24596593|PMID:24611097|PMID:24612839|PMID:24645897|PMID:24654934|PMID:24706568|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25153233|PMID:25162826|PMID:25188385|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25365227|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25560255|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25752103|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26046157|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26186295|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26397989|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26482070|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26763877|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27067584|PMID:27087580|PMID:27153395|PMID:27169813|PMID:27177978|PMID:27224056|PMID:27247933|PMID:27316387|PMID:27340645|PMID:27398341|PMID:27466889|PMID:27481527|PMID:27501294|PMID:27518711|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27761313|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:27884173|PMID:27884957|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28263784|PMID:28271504|PMID:28383030|PMID:28405014|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28651654|PMID:28704896 11806688 GJB2 gap junction protein beta 2 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 PMID:28900111|PMID:29062245|PMID:29106882|PMID:29148562|PMID:29196752|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:29542069|PMID:2956987|PMID:29605365|PMID:29625052|PMID:29665173|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30068397|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30168495|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30466042|PMID:30473554|PMID:30589569|PMID:30693673|PMID:30733538|PMID:30828346|PMID:30872814|PMID:30896630|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31152317|PMID:31160754|PMID:31162818|PMID:31163360|PMID:31195736|PMID:31346875|PMID:31370293|PMID:31379920|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32645618|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33297549|PMID:33333757|PMID:33466560|PMID:33524517|PMID:33597575|PMID:33928925|PMID:34062854|PMID:34335733|PMID:34440441|PMID:35396755|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9716127|PMID:9819448|PMID:9838096|PMID:9856479 11806688 GJB2 gap junction protein beta 2 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:10049954|PMID:10204859|PMID:10218527|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11445873|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11807148|PMID:11912510|PMID:11935342|PMID:11968091|PMID:12064630|PMID:12081719|PMID:12111646|PMID:12112666|PMID:12121355|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12352684|PMID:12384501|PMID:12384781|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12560944|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12865758|PMID:12885339|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14571368|PMID:14694360|PMID:14735592|PMID:14738110|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:15113126|PMID:15146474|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15479191|PMID:15617550|PMID:15638823|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:15994881|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17331080|PMID:17357124|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17661817|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18294064|PMID:18324688|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18570691|PMID:18684989|PMID:18776652|PMID:18804553|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19707039|PMID:19715472|PMID:19814620|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20095872|PMID:20154630|PMID:20201936|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20497192|PMID:20563649|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20981092|PMID:21094084|PMID:21122151|PMID:21162657|PMID:21220926|PMID:21465647|PMID:21468573|PMID:21488715|PMID:21776002|PMID:21811586|PMID:21910243|PMID:22000900|PMID:22011219|PMID:22037723|PMID:22106692|PMID:22281373|PMID:22567152|PMID:22567369|PMID:22567861|PMID:22574200|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22855627|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23073770|PMID:23141775|PMID:23328711|PMID:23489192|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23668481|PMID:23680645|PMID:23757202|PMID:23804846|PMID:23826813|PMID:23873582|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24158611|PMID:24341454|PMID:24346070|PMID:24529908|PMID:24611097|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25087612|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25288386|PMID:25326637|PMID:25388846|PMID:25401782|PMID:25555641|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25999548|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26336802|PMID:26444186|PMID:26467025 11806688 GJB2 gap junction protein beta 2 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:26482070|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26969326|PMID:27045574|PMID:2706105|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27481527|PMID:27610647|PMID:27623246|PMID:27785406|PMID:27792752|PMID:27843504|PMID:27884957|PMID:28012523|PMID:28428247|PMID:28489599|PMID:28492532|PMID:29293505|PMID:29311818|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29921236|PMID:29926981|PMID:3|PMID:30086704|PMID:30094485|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30589569|PMID:30693673|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31562289|PMID:32090102|PMID:32258544|PMID:32747562|PMID:33126609|PMID:33297549|PMID:33333757|PMID:33524517|PMID:34440441|PMID:35396755|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9422505|PMID:9482292|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9716127|PMID:9819448 11806688 GJB2 gap junction protein beta 2 gene DOID:0110564 autosomal dominant nonsyndromic deafness 3A ISO RGD:1351211 D RGD:7240710 20180130 OMIM 11806688 GJB2 gap junction protein beta 2 gene DOID:0110564 autosomal dominant nonsyndromic deafness 3A ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3a PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10369869|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10704187|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10807696|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10980526|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11298683|PMID:11313751|PMID:11313763|PMID:11354642|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12081719|PMID:12111646|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12372058|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12457340|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12668604|PMID:12673800|PMID:12684873|PMID:12700168|PMID:12746422|PMID:12786758|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12872268|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14676473|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14978038|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15757815|PMID:15790391|PMID:15832357|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:15996214|PMID:16059934|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16645853|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16931589|PMID:16945493|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17309986|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17431919|PMID:17444514|PMID:17462767|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17567887|PMID:17576681|PMID:17581693|PMID:17660464|PMID:17661817|PMID:17666888|PMID:17671735|PMID:17935238|PMID:17993581|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18353197|PMID:18414213|PMID:18451998|PMID:18472371|PMID:18560174|PMID:18570691|PMID:18607988|PMID:18668259|PMID:18684989|PMID:18688874|PMID:18776652|PMID:18793701|PMID:18804553|PMID:18924167|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19101659|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19274344|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19384972|PMID:19465004|PMID:19567088|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19877196|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20031451|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20096356|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449 11806688 GJB2 gap junction protein beta 2 gene DOID:0110564 autosomal dominant nonsyndromic deafness 3A ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3a PMID:20381175|PMID:20407643|PMID:20441744|PMID:20442751|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20607074|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20854437|PMID:20863150|PMID:20890442|PMID:20937258|PMID:20956747|PMID:20981092|PMID:21040787|PMID:2104787|PMID:21055240|PMID:21094084|PMID:21094651|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21388256|PMID:21392827|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21510145|PMID:21738759|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21836520|PMID:21844220|PMID:21868108|PMID:21910243|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22016077|PMID:22037723|PMID:22103400|PMID:22106692|PMID:22208444|PMID:22281373|PMID:22384008|PMID:22389666|PMID:22429511|PMID:22450542|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22567861|PMID:22574200|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22704424|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23266159|PMID:23328711|PMID:23451214|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23684175|PMID:23695287|PMID:23757202|PMID:23804846|PMID:23826813|PMID:23856378|PMID:23873582|PMID:23900770|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24078562|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24158896|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24372583|PMID:24387126|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24596593|PMID:24611097|PMID:24612839|PMID:24645897|PMID:24654934|PMID:24706568|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25153233|PMID:25162826|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25365227|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25752103|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26397989|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26482070|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26763877|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27153395|PMID:27169813|PMID:27177978|PMID:27224056|PMID:27247933|PMID:27316387|PMID:27398341|PMID:27481527|PMID:27501294|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:27884173|PMID:27884957|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28263784|PMID:28271504|PMID:28383030|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29140768|PMID:29148562|PMID:29196752|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29605365|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30068397|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30168495|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30466042|PMID:30589569|PMID:30693673|PMID:30828346|PMID:30872814|PMID:30896630|PMID:30989077|PMID:31035178 11806688 GJB2 gap junction protein beta 2 gene DOID:0110564 autosomal dominant nonsyndromic deafness 3A ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3a PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31379920|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31827275|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32455934|PMID:32645618|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33928925|PMID:34062854|PMID:34335733|PMID:34440441|PMID:35301649|PMID:35396755|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9716127|PMID:9819448|PMID:9856479 11806688 GJB2 gap junction protein beta 2 gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:1351211 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:28492532 11806688 GJB2 gap junction protein beta 2 gene DOID:0111339 Vohwinkel syndrome ISO RGD:1351211 D RGD:7240710 20180130 OMIM 11806688 GJB2 gap junction protein beta 2 gene DOID:0111339 Vohwinkel syndrome ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Keratoderma hereditarium mutilans | ClinVar Annotator: match by term: Mutilating keratoderma PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10369869|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11918723|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12072059|PMID:12081719|PMID:12111646|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12548749|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12673800|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15633193|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15769851|PMID:15790391|PMID:15832357|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17330861|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17431919|PMID:17444514|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17581693|PMID:17661817|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18570691|PMID:18668259|PMID:18684989|PMID:18776652|PMID:18804553|PMID:18843290|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20101161|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20441744|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20607074|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20956747|PMID:20981092|PMID:21094084|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21465647 11806688 GJB2 gap junction protein beta 2 gene DOID:0111339 Vohwinkel syndrome ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Keratoderma hereditarium mutilans | ClinVar Annotator: match by term: Mutilating keratoderma PMID:21468573|PMID:21481246|PMID:21488715|PMID:21738759|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21836520|PMID:21844220|PMID:21910243|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22016077|PMID:22037723|PMID:22106692|PMID:22281373|PMID:22384008|PMID:22429511|PMID:22450542|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22574200|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23328711|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23695287|PMID:23757202|PMID:23797420|PMID:23804846|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23924173|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24611097|PMID:24645897|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25365227|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25575739|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26482070|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27141831|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27398341|PMID:27481527|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:27884957|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28271504|PMID:28383030|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30068397|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30589569|PMID:30693673|PMID:30828346|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33928925|PMID:34062854|PMID:34335733|PMID:34440441|PMID:35396755|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9326398|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9716127|PMID:9819448 11806688 GJB2 gap junction protein beta 2 gene DOID:0111505 palmoplantar keratoderma-deafness syndrome ISO RGD:1351211 D RGD:7240710 20180130 OMIM 11806688 GJB2 gap junction protein beta 2 gene DOID:0111505 palmoplantar keratoderma-deafness syndrome ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Keratoderma palmoplantar, with deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma and sensorineural deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10980526|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11354642|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12081719|PMID:12111646|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12372058|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12668604|PMID:12673800|PMID:12684873|PMID:12700168|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15790391|PMID:15832357|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:15996214|PMID:16059934|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16945493|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17431919|PMID:17444514|PMID:17462767|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17581693|PMID:17661817|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18570691|PMID:18668259|PMID:18684989|PMID:18776652|PMID:18793701|PMID:18804553|PMID:18924167|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20096356|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20441744|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20607074|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20890442|PMID:20956747|PMID:20981092|PMID:21040787|PMID:2104787|PMID:21094084|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926 11806688 GJB2 gap junction protein beta 2 gene DOID:0111505 palmoplantar keratoderma-deafness syndrome ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Keratoderma palmoplantar, with deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma and sensorineural deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome PMID:21281533|PMID:21287563|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21510145|PMID:21738759|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21836520|PMID:21844220|PMID:21910243|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22016077|PMID:22037723|PMID:22106692|PMID:22281373|PMID:22384008|PMID:22429511|PMID:22450542|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22574200|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23328711|PMID:23451214|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23695287|PMID:23757202|PMID:23804846|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24387126|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24611097|PMID:24645897|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25153233|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25365227|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26482070|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27316387|PMID:27398341|PMID:27481527|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:27884957|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28271504|PMID:28383030|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30589569|PMID:30693673|PMID:30828346|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33928925|PMID:34062854|PMID:34335733|PMID:34440441|PMID:35396755|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9716127|PMID:9819448|PMID:9856479 11806688 GJB2 gap junction protein beta 2 gene DOID:0111737 X-linked deafness 2 ISO RGD:1351211 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10369869|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10713883|PMID:10751669|PMID:10782932|PMID:10807696|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11918723|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12072059|PMID:12081719|PMID:12111646|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12384781|PMID:12417772|PMID:12457154|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12673800|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14985372|PMID:14986832|PMID:15040442|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15482471|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15790391|PMID:15832357|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:16076412|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17431919|PMID:17444514|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17581693|PMID:17661817|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18570691|PMID:18668259|PMID:18684989|PMID:18776652|PMID:18804553|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20441744|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20607074|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20956747|PMID:20981092|PMID:21094084|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21836520|PMID:21844220|PMID:21910243|PMID:21962949 11806688 GJB2 gap junction protein beta 2 gene DOID:0111737 X-linked deafness 2 ISO RGD:1351211 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear PMID:22000900|PMID:22011219|PMID:22016077|PMID:22037723|PMID:22106692|PMID:22281373|PMID:22384008|PMID:22429511|PMID:22450542|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22695344|PMID:22701767|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23328711|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23695287|PMID:23757202|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24645897|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25937001|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27398341|PMID:27481527|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28271504|PMID:28383030|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28590052|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30094485|PMID:30146550|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30589569|PMID:30693673|PMID:30828346|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32747562|PMID:33096615|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33928925|PMID:34062854|PMID:34335733|PMID:34440441|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9819448 11806688 GJB2 gap junction protein beta 2 gene DOID:0111737 X-linked deafness 2 ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10713883|PMID:10751669|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12081719|PMID:12111646|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12384781|PMID:12417772|PMID:12457154|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12673800|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14985372|PMID:14986832|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15790391|PMID:15832357|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:16076412|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17431919|PMID:17444514|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17581693|PMID:17661817|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18570691|PMID:18668259|PMID:18684989|PMID:18776652|PMID:18804553|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20441744|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20607074|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20956747|PMID:20981092|PMID:21094084|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21836520|PMID:21844220|PMID:21910243|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22016077|PMID:22037723|PMID:22106692|PMID:22281373 11806688 GJB2 gap junction protein beta 2 gene DOID:0111737 X-linked deafness 2 ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear PMID:22384008|PMID:22429511|PMID:22450542|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22574200|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22695344|PMID:22701767|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23328711|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23695287|PMID:23757202|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24645897|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27398341|PMID:27481527|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28271504|PMID:28383030|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30589569|PMID:30693673|PMID:30828346|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32747562|PMID:33096615|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33928925|PMID:34062854|PMID:34335733|PMID:34440441|PMID:35396755|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9819448 11806688 GJB2 gap junction protein beta 2 gene DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome PMID:25741868|PMID:28492532|PMID:30431684 11806688 GJB2 gap junction protein beta 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Progressive sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:10204859|PMID:10369869|PMID:10376574|PMID:10422812|PMID:10477435|PMID:10508996|PMID:10544226|PMID:10607953|PMID:10633133|PMID:10713883|PMID:10751669|PMID:10782932|PMID:10874298|PMID:10982180|PMID:10982182|PMID:11313751|PMID:11313763|PMID:11386851|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11551104|PMID:11668644|PMID:11807148|PMID:11912510|PMID:11918723|PMID:12072059|PMID:12081719|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12189493|PMID:12239718|PMID:12522556|PMID:12548749|PMID:12562518|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12865758|PMID:14070830|PMID:14643477|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14986832|PMID:15070423|PMID:15113126|PMID:15146474|PMID:15359540|PMID:15365987|PMID:15617550|PMID:15633193|PMID:15656949|PMID:15666300|PMID:15757815|PMID:15769851|PMID:15954104|PMID:15967879|PMID:16088916|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16380907|PMID:16532460|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16868655|PMID:17330861|PMID:17426645|PMID:17428550|PMID:17553572|PMID:17660464|PMID:17666888|PMID:17671735|PMID:17993581|PMID:18294064|PMID:18414213|PMID:18472371|PMID:18776652|PMID:18804553|PMID:18843290|PMID:18925674|PMID:18941476|PMID:18985073|PMID:18987669|PMID:19043807|PMID:19101659|PMID:19125024|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19925344|PMID:19929408|PMID:20073550|PMID:20086291|PMID:20086306|PMID:20101161|PMID:20236118|PMID:20301449|PMID:20668687|PMID:20739944|PMID:20815033|PMID:21220926|PMID:21366436|PMID:21465647|PMID:21468573|PMID:21910243|PMID:22037723|PMID:22281373|PMID:22389666|PMID:22567152|PMID:22567369|PMID:22567861|PMID:22613756|PMID:22704424|PMID:22855627|PMID:22975760|PMID:22981120|PMID:22995991|PMID:23489192|PMID:23668481|PMID:23757202|PMID:23797420|PMID:23924173|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24158611|PMID:24158896|PMID:24346070|PMID:24774219|PMID:25262649|PMID:25266519|PMID:25388846|PMID:25575739|PMID:25741868|PMID:25999548|PMID:26059209|PMID:26096904|PMID:26178431|PMID:26188157|PMID:26467025|PMID:26553399|PMID:26749107|PMID:26778469|PMID:26969326|PMID:2706105|PMID:27141831|PMID:27153395|PMID:27884173|PMID:28492532|PMID:29362677|PMID:29501291|PMID:30086704|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30431684|PMID:30872814|PMID:33524517|PMID:34440441|PMID:35396755|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9482292|PMID:9529365|PMID:9600457|PMID:9620796|PMID:9819448 11806688 GJB2 gap junction protein beta 2 gene DOID:12577 urethral obstruction ISO RGD:728891 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:urothelium: PMID:11900482|REF_RGD_ID:11568666 11806688 GJB2 gap junction protein beta 2 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:1351211 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neonatal respiratory distress PMID:25741868 11806688 GJB2 gap junction protein beta 2 gene DOID:13619 extrahepatic cholestasis ISO RGD:728891 D RGD:9068941 20200609 RGD PMID:7762611|REF_RGD_ID:7349397 11806688 GJB2 gap junction protein beta 2 gene DOID:14693 Clouston syndrome ISO RGD:1351211 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 11806688 GJB2 gap junction protein beta 2 gene DOID:1697 ichthyosis ISO RGD:1351211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16172043 11806688 GJB2 gap junction protein beta 2 gene DOID:2121 ectodermal dysplasia ISO RGD:1351211 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 11806688 GJB2 gap junction protein beta 2 gene DOID:2280 hidradenitis suppurativa ISO RGD:1351211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16172043 11806688 GJB2 gap junction protein beta 2 gene DOID:326 ischemia ISO RGD:728891 D RGD:9068941 20200609 RGD in urinary bladder; protein:increased expression:urothelium: PMID:24728265|REF_RGD_ID:11568671 11806688 GJB2 gap junction protein beta 2 gene DOID:3390 palmoplantar keratosis ISO RGD:1351211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16172043 11806688 GJB2 gap junction protein beta 2 gene DOID:3488 cellulitis ISO RGD:1351211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16172043 11806688 GJB2 gap junction protein beta 2 gene DOID:3910 lung adenocarcinoma ISO RGD:728891 D RGD:9068941 20200609 RGD DNA, mRNA:hypermethylation, decreased expression:lung PMID:16637067|REF_RGD_ID:11568669 11806688 GJB2 gap junction protein beta 2 gene DOID:4677 keratitis ISO RGD:1351211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16172043 11806688 GJB2 gap junction protein beta 2 gene DOID:630 genetic disease ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10049954|PMID:10204859|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10903123|PMID:10982180|PMID:10982182|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11386851|PMID:11483639|PMID:11493200|PMID:11551104|PMID:11556849|PMID:11668644|PMID:11746015|PMID:11807148|PMID:11935342|PMID:12081719|PMID:12121355|PMID:12172392|PMID:12176036|PMID:12189493|PMID:12239718|PMID:12384501|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12560944|PMID:12684873|PMID:12786762|PMID:12792423|PMID:12865758|PMID:14070830|PMID:14694360|PMID:14735592|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:15113126|PMID:15235031|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15479191|PMID:15666300|PMID:15700112|PMID:15954104|PMID:15967879|PMID:16077952|PMID:16088916|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16380907|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16868655|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17331080|PMID:17357124|PMID:17426645|PMID:17428550|PMID:17553572|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18294064|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18804553|PMID:18925674|PMID:18985073|PMID:19027181|PMID:19125024|PMID:19173109|PMID:19235794|PMID:19371219|PMID:19375528|PMID:19707039|PMID:19925344|PMID:19941053|PMID:20073550|PMID:20083784|PMID:20236118|PMID:20301449|PMID:20708129|PMID:20739944|PMID:20815033|PMID:21131880|PMID:21220926|PMID:21287563|PMID:21465647|PMID:21468573|PMID:21488715|PMID:21811586|PMID:21910243|PMID:22106692|PMID:22281373|PMID:22567152|PMID:22574200|PMID:22668073|PMID:22695344|PMID:22785241|PMID:22855627|PMID:22975760|PMID:22981120|PMID:23141775|PMID:23489192|PMID:23555729|PMID:23637863|PMID:23668481|PMID:23680645|PMID:23757202|PMID:23804846|PMID:23826813|PMID:23873582|PMID:24033266|PMID:24039984|PMID:24158611|PMID:24346070|PMID:24529908|PMID:24611097|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24945352|PMID:25085072|PMID:25262649|PMID:25288386|PMID:25326637|PMID:25741868|PMID:25999548|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26236732|PMID:26346709|PMID:26399936|PMID:26467025|PMID:26482070|PMID:26885124|PMID:26896187|PMID:26969326|PMID:2706105|PMID:27623246|PMID:27884957|PMID:28428247|PMID:28489599|PMID:28492532|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29773520|PMID:29926981|PMID:30086704|PMID:30303587|PMID:30311386|PMID:30431684|PMID:30872814|PMID:31160754|PMID:31370293|PMID:31562289|PMID:31620164|PMID:32258544|PMID:33126609|PMID:33524517|PMID:34440441|PMID:35396755|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9422505|PMID:9482292|PMID:9529365|PMID:9600457|PMID:9620796|PMID:9716127|PMID:9819448 11806688 GJB2 gap junction protein beta 2 gene DOID:684 hepatocellular carcinoma ISO RGD:728891 D RGD:9068941 20200609 RGD DNA, mRNA:promoter hypermethylation, decreased expression:liver PMID:17295234|REF_RGD_ID:2289638 11806688 GJB2 gap junction protein beta 2 gene DOID:7188 autoimmune thyroiditis ISO RGD:728891 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression, altered expression:thyroid gland: PMID:8770903|REF_RGD_ID:7349390 11806688 GJB2 gap junction protein beta 2 gene DOID:8893 psoriasis ISO RGD:1351211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953187|PMID:24212883 11806688 GJB2 gap junction protein beta 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:728891 D RGD:9068941 20200609 RGD PMID:1336494|REF_RGD_ID:7349398 11806688 GJB2 gap junction protein beta 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1351211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25741868 11806688 GJB2 gap junction protein beta 2 gene DOID:9002633 Premature Obstetric Labor ISO RGD:728891 D RGD:9068941 20200609 RGD PMID:8612484|REF_RGD_ID:11568660 11806688 GJB2 gap junction protein beta 2 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:728891 D RGD:9068941 20200609 RGD protein:increased expression:cochlea: PMID:15224875|REF_RGD_ID:7349367 11806688 GJB2 gap junction protein beta 2 gene DOID:9004464 Skin Neoplasms ISO RGD:1351211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7586191 11806688 GJB2 gap junction protein beta 2 gene DOID:9004538 Hearing Loss ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10369869|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10704187|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11386851|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11918723|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12072059|PMID:12081719|PMID:12111646|PMID:12112666|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12457340|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12548749|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12865758|PMID:12872268|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14681040|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:15113126|PMID:15146474|PMID:15146674|PMID:15150777|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15479191|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15633193|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15769851|PMID:15790391|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16931589|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17330861|PMID:17331080|PMID:17357124|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17581693|PMID:17661817|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18414213|PMID:18451998|PMID:18519481|PMID:18560174|PMID:18570691|PMID:18684989|PMID:18758381|PMID:18776652|PMID:18804553|PMID:18843290|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19723508|PMID:19814620|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20096356|PMID:20101161|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20441744|PMID:20442751|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20639189|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20937258|PMID:20981092|PMID:21040787|PMID:21094084|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21298644|PMID:21366436|PMID:21388256|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21510145|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21868108|PMID:21910243|PMID:21912263|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22037723|PMID:22106692|PMID:22208444|PMID:22281373|PMID:22384008|PMID:22429511|PMID:22498363 11806688 GJB2 gap junction protein beta 2 gene DOID:9004538 Hearing Loss ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:22567152|PMID:22567369|PMID:22574200|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22995991|PMID:23039283|PMID:23120683|PMID:23141775|PMID:23328711|PMID:23418865|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23668481|PMID:23680645|PMID:23757202|PMID:23797420|PMID:23804846|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23924173|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24158611|PMID:24256046|PMID:24346070|PMID:24503448|PMID:24529908|PMID:24611097|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25162826|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25388846|PMID:25401782|PMID:25555641|PMID:25575739|PMID:25587757|PMID:25625422|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25808784|PMID:25999548|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26482070|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27141831|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27340645|PMID:27398341|PMID:27481527|PMID:27534436|PMID:27623246|PMID:27785406|PMID:27792752|PMID:27843504|PMID:27884957|PMID:28012523|PMID:28263784|PMID:28271504|PMID:28428247|PMID:28489599|PMID:28492532|PMID:29106882|PMID:29140768|PMID:29293505|PMID:29311818|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29605365|PMID:29625052|PMID:29921236|PMID:29926981|PMID:3|PMID:30068397|PMID:30086704|PMID:30094485|PMID:30168495|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30589569|PMID:30693673|PMID:30733538|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31562289|PMID:31569309|PMID:31581539|PMID:31589614|PMID:31620696|PMID:31827275|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32455934|PMID:32645618|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33333757|PMID:33524517|PMID:34335733|PMID:34440441|PMID:35301649|PMID:35396755|PMID:6409293|PMID:9139825|PMID:9285800|PMID:9326398|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9716127|PMID:9819448 11806688 GJB2 gap junction protein beta 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:728891 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:retina: PMID:22110070|REF_RGD_ID:7364887 11806688 GJB2 gap junction protein beta 2 gene DOID:9005709 Keratitis-Ichthyosis-Deafness Syndrome ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Keratitis-Ichthyosis-Deafness Syndrome PMID:10049954|PMID:10508996|PMID:10596881|PMID:10903123|PMID:10982182|PMID:11074495|PMID:11386851|PMID:11556849|PMID:11668644|PMID:11935342|PMID:15967879|PMID:16380907|PMID:17666888|PMID:18414213|PMID:19125024|PMID:20301449|PMID:20739944|PMID:21465647|PMID:22567369|PMID:22695344|PMID:22785241|PMID:24033266|PMID:24158611|PMID:24529908|PMID:25741868|PMID:26096904|PMID:26236732|PMID:26467025|PMID:26896187|PMID:28428247|PMID:28492532|PMID:30311386|PMID:31160754|PMID:9285800|PMID:9819448 11806688 GJB2 gap junction protein beta 2 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant | ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss PMID:10049954|PMID:10376574|PMID:10508996|PMID:10596881|PMID:10903123|PMID:10982182|PMID:11074495|PMID:11102979|PMID:11216656|PMID:11313763|PMID:11386851|PMID:11493200|PMID:11556849|PMID:11584050|PMID:11668644|PMID:11935342|PMID:12189487|PMID:12560944|PMID:12865758|PMID:12925341|PMID:14681040|PMID:14694360|PMID:14722929|PMID:15070423|PMID:15150777|PMID:15365987|PMID:15617550|PMID:15666300|PMID:15967879|PMID:16217030|PMID:16222667|PMID:16380907|PMID:16467727|PMID:16931589|PMID:16950989|PMID:17041943|PMID:17146393|PMID:17666888|PMID:17935238|PMID:18414213|PMID:18758381|PMID:19125024|PMID:19371219|PMID:19384972|PMID:19715472|PMID:19929407|PMID:20086306|PMID:20234132|PMID:20301449|PMID:20381175|PMID:20553101|PMID:20739944|PMID:20863150|PMID:21094084|PMID:21287563|PMID:21465647|PMID:21912263|PMID:22567369|PMID:22613756|PMID:22695344|PMID:22785241|PMID:23266159|PMID:24033266|PMID:24158611|PMID:24256046|PMID:24529908|PMID:24706568|PMID:25162826|PMID:25388846|PMID:25401782|PMID:25741868|PMID:26096904|PMID:26236732|PMID:26346709|PMID:26467025|PMID:26749107|PMID:26763877|PMID:26896187|PMID:27045574|PMID:27247933|PMID:27501294|PMID:27534436|PMID:28428247|PMID:28492532|PMID:29196752|PMID:29501291|PMID:30311386|PMID:30896630|PMID:31160754|PMID:9285800|PMID:9819448 11806688 GJB2 gap junction protein beta 2 gene DOID:9008681 Deafness ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness PMID:10204859|PMID:10218527|PMID:10376574|PMID:10422812|PMID:10477435|PMID:10508996|PMID:10544226|PMID:10607953|PMID:10633133|PMID:10713883|PMID:10751669|PMID:10782932|PMID:10830906|PMID:10982180|PMID:10982182|PMID:11313751|PMID:11313763|PMID:11386851|PMID:11483639|PMID:11493200|PMID:11551104|PMID:11668644|PMID:11807148|PMID:12081719|PMID:12172392|PMID:12176036|PMID:12176179|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12684873|PMID:12786762|PMID:14070830|PMID:14694360|PMID:14735592|PMID:14738110|PMID:14985372|PMID:14986832|PMID:15070423|PMID:15113126|PMID:15146474|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15666300|PMID:15954104|PMID:15967879|PMID:16088916|PMID:16300957|PMID:16336662|PMID:163800907|PMID:16380907|PMID:16773579|PMID:16849369|PMID:16868655|PMID:17041943|PMID:17428550|PMID:17553572|PMID:17661817|PMID:17993581|PMID:18294064|PMID:18414213|PMID:18804553|PMID:18925674|PMID:18985073|PMID:19173109|PMID:19371219|PMID:19375528|PMID:19925344|PMID:19941053|PMID:20073550|PMID:20236118|PMID:20301449|PMID:20739944|PMID:20815033|PMID:21094084|PMID:21220926|PMID:21465647|PMID:21468573|PMID:21910243|PMID:22037723|PMID:22281373|PMID:22567152|PMID:22855627|PMID:22975760|PMID:22981120|PMID:23489192|PMID:23757202|PMID:24033266|PMID:24039984|PMID:24158611|PMID:24346070|PMID:24793888|PMID:25189242|PMID:25214170|PMID:25637381|PMID:25741868|PMID:25999548|PMID:26059209|PMID:26096904|PMID:26467025|PMID:26896187|PMID:26969326|PMID:2706105|PMID:28492532|PMID:29293505|PMID:29311818|PMID:29362677|PMID:29501291|PMID:30086704|PMID:30303587|PMID:30311386|PMID:30431684|PMID:30872814|PMID:33333757|PMID:33524517|PMID:34440441|PMID:35396755|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9482292|PMID:9600457|PMID:9620796|PMID:9819448 11806688 GJB2 gap junction protein beta 2 gene DOID:9008762 HID Syndrome ISO RGD:1351211 D RGD:7240710 20180130 OMIM 11806688 GJB2 gap junction protein beta 2 gene DOID:9008762 HID Syndrome ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HID SYNDROME | ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10369869|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10980526|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11918723|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12072059|PMID:12081719|PMID:12111646|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12548749|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12673800|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12872268|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14978038|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15633193|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15757815|PMID:15769851|PMID:15790391|PMID:15832357|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16645853|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17309986|PMID:17330861|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17431919|PMID:17444514|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17581693|PMID:17660464|PMID:17661817|PMID:17666888|PMID:17671735|PMID:17935238|PMID:17993581|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18353197|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18570691|PMID:18607988|PMID:18668259|PMID:18684989|PMID:18776652|PMID:18804553|PMID:18843290|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19384972|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19877196|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20031451|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20101161|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20441744|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20607074|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20956747|PMID:20981092 11806688 GJB2 gap junction protein beta 2 gene DOID:9008762 HID Syndrome ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: HID SYNDROME | ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness PMID:21055240|PMID:21094084|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21392827|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21738759|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21836520|PMID:21844220|PMID:21910243|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22016077|PMID:22037723|PMID:22103400|PMID:22106692|PMID:22281373|PMID:22384008|PMID:22389666|PMID:22429511|PMID:22450542|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22567861|PMID:22574200|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22704424|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23266159|PMID:23328711|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23684175|PMID:23695287|PMID:23757202|PMID:23797420|PMID:23804846|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23924173|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24078562|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24158896|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24596593|PMID:24611097|PMID:24612839|PMID:24645897|PMID:24654934|PMID:24706568|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25162826|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25365227|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25575739|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26482070|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26763877|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27141831|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27247933|PMID:27398341|PMID:27481527|PMID:27501294|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:27884173|PMID:27884957|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28271504|PMID:28383030|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29148562|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30466042|PMID:30589569|PMID:30693673|PMID:30828346|PMID:30872814|PMID:30896630|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33928925|PMID:34062854|PMID:34335733|PMID:34440441|PMID:35396755|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098 11806688 GJB2 gap junction protein beta 2 gene DOID:9008762 HID Syndrome ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: HID SYNDROME | ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness PMID:9600457|PMID:9620796|PMID:9710598|PMID:9716127|PMID:9819448|PMID:9856479 11806693 RPS6KA2 ribosomal protein S6 kinase A2 gene DOID:0060041 autism spectrum disorder ISO RGD:1348784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11806693 RPS6KA2 ribosomal protein S6 kinase A2 gene DOID:3312 bipolar disorder ISO RGD:1348784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 11806693 RPS6KA2 ribosomal protein S6 kinase A2 gene DOID:630 genetic disease ISO RGD:1348784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11806725 LZTS2 leucine zipper tumor suppressor 2 gene DOID:18 urinary system disease ISO RGD:1552566 D RGD:9068941 20220825 MouseDO 11806725 LZTS2 leucine zipper tumor suppressor 2 gene DOID:630 genetic disease ISO RGD:1343241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11806743 ZNF322 zinc finger protein 322 gene DOID:630 genetic disease ISO RGD:1347331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11806768 MAP1A microtubule associated protein 1A gene DOID:1459 hypothyroidism ISO RGD:3042 D RGD:9068941 20200609 RGD protein:increased expression:cerebellum PMID:3252178|REF_RGD_ID:2304042 11806768 MAP1A microtubule associated protein 1A gene DOID:2717 Bloom syndrome ISO RGD:736437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11806768 MAP1A microtubule associated protein 1A gene DOID:630 genetic disease ISO RGD:736437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11806768 MAP1A microtubule associated protein 1A gene DOID:9256 colorectal cancer ISO RGD:736437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11806782 KLF16 KLF transcription factor 16 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1314308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 11806782 KLF16 KLF transcription factor 16 gene DOID:5339 cyclic hematopoiesis ISO RGD:1314308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11806782 KLF16 KLF transcription factor 16 gene DOID:630 genetic disease ISO RGD:1314308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11806782 KLF16 KLF transcription factor 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11806804 GYG1 glycogenin 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:1348748 D RGD:7240710 20180130 OMIM 11806804 GYG1 glycogenin 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:1348748 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:16199547|PMID:17576681|PMID:20357282|PMID:22198226|PMID:24033266|PMID:25272951|PMID:25741868|PMID:26652229|PMID:26944241|PMID:27544502|PMID:27718144|PMID:28453664|PMID:28492532|PMID:29143313|PMID:29264399|PMID:29422440|PMID:32528171|PMID:9536098 11806804 GYG1 glycogenin 1 gene DOID:2747 glycogen storage disease ISO RGD:1348748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20357282 11806804 GYG1 glycogenin 1 gene DOID:630 genetic disease ISO RGD:1348748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11806804 GYG1 glycogenin 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1348748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20357282 11806804 GYG1 glycogenin 1 gene DOID:9002303 Polyglucosan Body Myopathy 2 ISO RGD:1348748 D RGD:7240710 20180130 OMIM 11806804 GYG1 glycogenin 1 gene DOID:9002303 Polyglucosan Body Myopathy 2 ISO RGD:1348748 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Polyglucosan body myopathy type 2 PMID:16199547|PMID:17576681|PMID:20357282|PMID:24033266|PMID:25272951|PMID:25741868|PMID:26652229|PMID:26944241|PMID:27718144|PMID:28453664|PMID:28492532|PMID:29143313|PMID:29264399|PMID:29422440|PMID:32528171|PMID:9536098 11806804 GYG1 glycogenin 1 gene DOID:9005532 Muscle Weakness ISO RGD:1348748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20357282 11806804 GYG1 glycogenin 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1348748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11806824 NOP9 NOP9 nucleolar protein gene DOID:0060439 lysinuric protein intolerance ISO RGD:1318142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11806824 NOP9 NOP9 nucleolar protein gene DOID:630 genetic disease ISO RGD:1318142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11806824 NOP9 NOP9 nucleolar protein gene DOID:9000265 Specific Granule Deficiency ISO RGD:1318142 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11806824 NOP9 NOP9 nucleolar protein gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1318142 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11806824 NOP9 NOP9 nucleolar protein gene DOID:9008939 Breast Neoplasms ISO RGD:1318142 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 11806840 LIPT2 lipoyl(octanoyl) transferase 2 gene DOID:0050700 cardiomyopathy ISO RGD:2947567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16449802|PMID:17395131|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 11806840 LIPT2 lipoyl(octanoyl) transferase 2 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:2947567 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11806840 LIPT2 lipoyl(octanoyl) transferase 2 gene DOID:0110223 Brugada syndrome 6 ISO RGD:2947567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 6 PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16449802|PMID:17395131|PMID:19306396|PMID:22987075|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28747690 11806840 LIPT2 lipoyl(octanoyl) transferase 2 gene DOID:1059 intellectual disability ISO RGD:2947567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11806840 LIPT2 lipoyl(octanoyl) transferase 2 gene DOID:630 genetic disease ISO RGD:2947567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11806840 LIPT2 lipoyl(octanoyl) transferase 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:2947567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16449802|PMID:17395131|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 11806840 LIPT2 lipoyl(octanoyl) transferase 2 gene DOID:9000727 Syncope ISO RGD:2947567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syncope PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16449802|PMID:17395131|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 11806840 LIPT2 lipoyl(octanoyl) transferase 2 gene DOID:9007560 Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities ISO RGD:2947567 D RGD:7240710 20190315 OMIM 11806840 LIPT2 lipoyl(octanoyl) transferase 2 gene DOID:9007560 Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities ISO RGD:2947567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | ClinVar Annotator: match by term: LIPOYLTRANSFERASE 2 DEFICIENCY PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16449802|PMID:17395131|PMID:19306396|PMID:22987075|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28747690|PMID:28757203 11806849 AP1S3 adaptor related protein complex 1 subunit sigma 3 gene DOID:0111281 psoriasis 15 ISO RGD:1323403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Psoriasis 15, pustular, susceptibility to PMID:24033266|PMID:24791904|PMID:25741868|PMID:28887889 11806849 AP1S3 adaptor related protein complex 1 subunit sigma 3 gene DOID:0111281 psoriasis 15 susceptibility ISO RGD:1323403 D RGD:7240710 20190904 OMIM 11806849 AP1S3 adaptor related protein complex 1 subunit sigma 3 gene DOID:630 genetic disease ISO RGD:1323403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11806849 AP1S3 adaptor related protein complex 1 subunit sigma 3 gene DOID:8893 psoriasis ISO RGD:1323403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11806849 AP1S3 adaptor related protein complex 1 subunit sigma 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11806858 ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1321758 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome PMID:14709599|PMID:14973778|PMID:14973782|PMID:20679665|PMID:22966035|PMID:24033266|PMID:25741868|PMID:25956699|PMID:26931382|PMID:27172925|PMID:27325525|PMID:28492532|PMID:28554332|PMID:31994750 11806858 ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:0080563 congenital disorder of glycosylation Ik ISO RGD:1321758 D RGD:7240710 20180130 OMIM 11806858 ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:0080563 congenital disorder of glycosylation Ik ISO RGD:1321758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CDG Ik | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K PMID:14709599|PMID:14973778|PMID:14973782|PMID:16199547|PMID:17576681|PMID:20679665|PMID:22966035|PMID:23757202|PMID:23806237|PMID:24033266|PMID:24157261|PMID:25640679|PMID:25741868|PMID:25954003|PMID:25956699|PMID:26430078|PMID:26453362|PMID:26931382|PMID:27172925|PMID:27325525|PMID:27618451|PMID:27670784|PMID:28490743|PMID:28492532|PMID:28554332|PMID:30653653|PMID:31994750|PMID:32064623|PMID:32190976|PMID:32573669|PMID:33643843|PMID:34567092|PMID:9536098 11806858 ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:1059 intellectual disability ISO RGD:1321758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11806858 ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1321758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:28492532 11806858 ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1321758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:14709599|PMID:14973778|PMID:14973782|PMID:16199547|PMID:17576681|PMID:20679665|PMID:22966035|PMID:23806237|PMID:24033266|PMID:24157261|PMID:25741868|PMID:25956699|PMID:26430078|PMID:26453362|PMID:26931382|PMID:27172925|PMID:27325525|PMID:28492532|PMID:28554332|PMID:30653653|PMID:31994750|PMID:32064623|PMID:32190976|PMID:32573669|PMID:34567092|PMID:9536098 11806858 ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:630 genetic disease ISO RGD:1321758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14709599|PMID:14973778|PMID:14973782|PMID:20679665|PMID:22966035|PMID:23806237|PMID:24033266|PMID:24157261|PMID:25741868|PMID:25954003|PMID:25956699|PMID:26430078|PMID:26931382|PMID:27172925|PMID:27325525|PMID:27618451|PMID:27670784|PMID:28490743|PMID:28492532|PMID:28554332|PMID:31994750|PMID:32064623|PMID:34567092 11806858 ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1321758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:28492532 11806858 ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:936 brain disease ISO RGD:1321758 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:14709599|PMID:14973778|PMID:14973782|PMID:17576681|PMID:20679665|PMID:22966035|PMID:24033266|PMID:25741868|PMID:25956699|PMID:26931382|PMID:27172925|PMID:27325525|PMID:28492532|PMID:28554332|PMID:31994750|PMID:32190976|PMID:34567092|PMID:9536098 11806882 PKHD1L1 PKHD1 like 1 gene DOID:630 genetic disease ISO RGD:1321293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11806964 KDM2A lysine demethylase 2A gene DOID:1059 intellectual disability ISO RGD:1319753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11806964 KDM2A lysine demethylase 2A gene DOID:3908 lung non-small cell carcinoma ISO RGD:1319753 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:24482232|REF_RGD_ID:9588265 11806964 KDM2A lysine demethylase 2A gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1319753 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach (human) PMID:24200691|REF_RGD_ID:9588263 11806964 KDM2A lysine demethylase 2A gene DOID:6000 congestive heart failure ISO RGD:1616561 D RGD:9068941 20200609 RGD protein:altered localization:promoter (mouse) PMID:25181347|REF_RGD_ID:9588275 11806964 KDM2A lysine demethylase 2A gene DOID:630 genetic disease ISO RGD:1319753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11806964 KDM2A lysine demethylase 2A gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1319753 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11806964 KDM2A lysine demethylase 2A gene DOID:9005539 Familial Prostate Cancer ISO RGD:1319753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11806964 KDM2A lysine demethylase 2A gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1319753 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11806964 KDM2A lysine demethylase 2A gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 11807008 TMEM106B transmembrane protein 106B gene DOID:0080600 COVID-19 ISO RGD:1603394 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33686287 11807008 TMEM106B transmembrane protein 106B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11807008 TMEM106B transmembrane protein 106B gene DOID:630 genetic disease ISO RGD:1603394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807008 TMEM106B transmembrane protein 106B gene DOID:8725 vascular dementia ISO RGD:1603394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:33268848 11807008 TMEM106B transmembrane protein 106B gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1603394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20154673 11807008 TMEM106B transmembrane protein 106B gene DOID:9009170 Hypomyelinating Leukodystrophy 16 ISO RGD:1603394 D RGD:7240710 20190315 OMIM 11807008 TMEM106B transmembrane protein 106B gene DOID:9009170 Hypomyelinating Leukodystrophy 16 ISO RGD:1603394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 16 PMID:10338095|PMID:10737981|PMID:16941474|PMID:17309651|PMID:25741868|PMID:28492532|PMID:29186371|PMID:29194508|PMID:29444210|PMID:32572497|PMID:32595021 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1353888 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:0060249 scoliosis ISO RGD:1353888 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:0080001 bone disease ISO RGD:1353888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9207788 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1353888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:0080205 CAKUT ISO RGD:1353888 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868|PMID:28492532 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1353888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:1353888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:13375 temporal arteritis ISO RGD:1353888 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:temporal artery,leukocytes, mononuclear PMID:21220737|REF_RGD_ID:6482238 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:1682 congenital heart disease ISO RGD:1353888 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Isolated Nonsyndromic Congenital Heart Disease PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:12497640|PMID:16575836|PMID:19948535|PMID:20437614|PMID:21752016|PMID:22040217|PMID:23956173|PMID:24033266|PMID:25260786|PMID:25326637|PMID:25741868|PMID:26760175|PMID:28372585|PMID:28492532|PMID:30074189|PMID:9585603 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:1682 congenital heart disease ISO RGD:1353888 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Isolated Nonsyndromic Congenital Heart Disease PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:12497640|PMID:16575836|PMID:19948535|PMID:20437614|PMID:21752016|PMID:22040217|PMID:23956173|PMID:24033266|PMID:25260786|PMID:25741868|PMID:26760175|PMID:28372585|PMID:28492532|PMID:30074189|PMID:9585603 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:1682 congenital heart disease ISO RGD:1353888 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Heart, malformation of | ClinVar Annotator: match by term: Isolated Nonsyndromic Congenital Heart Disease PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:12497640|PMID:16575836|PMID:19948535|PMID:20437614|PMID:21752016|PMID:22040217|PMID:23956173|PMID:24033266|PMID:25260786|PMID:25741868|PMID:26760175|PMID:28492532|PMID:9585603 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:2377 multiple sclerosis ISO RGD:1353888 D RGD:9068941 20200609 RGD PMID:16934875|REF_RGD_ID:6482240 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:2377 multiple sclerosis disease_progression ISO RGD:1353888 D RGD:9068941 20200609 RGD PMID:20805994|REF_RGD_ID:6482233 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:3068 glioblastoma ISO RGD:1353888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:735466 D RGD:9068941 20200609 RGD protein:increased expression:spinal chord PMID:26067594|REF_RGD_ID:13524575 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:3571 liver cancer treatment ISO RGD:735466 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver PMID:25311838|REF_RGD_ID:14694834 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1353888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:3627 aortic aneurysm ISO RGD:1353888 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aortic dilatation PMID:25741868 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:3770 pulmonary fibrosis ISO RGD:2937 D RGD:9068941 20221201 RGD protein:increased expression:lung PMID:27982686|REF_RGD_ID:155663660 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:630 genetic disease ISO RGD:1353888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12497640|PMID:24033266|PMID:25741868|PMID:28492532 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1353888 D RGD:7240710 20180130 OMIM 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1353888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11152664|PMID:11157803|PMID:12442286|PMID:12497640|PMID:12649809|PMID:16575836|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:21752016|PMID:22040217|PMID:22487239|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25676721|PMID:25741868|PMID:26760175|PMID:28492532|PMID:30293987|PMID:32065591|PMID:33433009|PMID:9585603 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1353888 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:30660174|REF_RGD_ID:14694832 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:8398 osteoarthritis ISO RGD:1353888 D RGD:9068941 20200609 RGD PMID:18354251|REF_RGD_ID:6482239 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:8501 fundus dystrophy ISO RGD:1353888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11180599|PMID:28492532 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:8947 diabetic retinopathy ISO RGD:735466 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:retina: PMID:30787185|REF_RGD_ID:155663348 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:9001487 Facies ISO RGD:1353888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9207787|PMID:9207788 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:9002114 Charcot-Marie-Tooth Disease Axonal Type 2HH ISO RGD:1353888 D RGD:7240710 20211110 OMIM 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:9002114 Charcot-Marie-Tooth Disease Axonal Type 2HH ISO RGD:1353888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2HH | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2HH | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2HH PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11157803|PMID:12442286|PMID:12497640|PMID:16575836|PMID:19948535|PMID:20301450|PMID:20437614|PMID:21752016|PMID:22040217|PMID:22487239|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25676721|PMID:25741868|PMID:26760175|PMID:28492532|PMID:32065591|PMID:9585603 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:9002457 Experimental Arthritis ISO RGD:735466 D RGD:9068941 20200609 RGD PMID:19265135|REF_RGD_ID:6482234 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:735466 D RGD:9068941 20200609 RGD PMID:17947672|REF_RGD_ID:6482235 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1353888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1353888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17804716 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:2937 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery PMID:21330605|REF_RGD_ID:6482230 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:9006190 Chronic Pancreatitis ISO RGD:1353888 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:pancreas PMID:17114010|REF_RGD_ID:6482236 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:9007096 Stroke ISO RGD:1353888 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:28492532 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:9007573 Flatfoot ISO RGD:1353888 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: flatfoot PMID:25741868 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1353888 D RGD:9068941 20200609 RGD PMID:18691378|REF_RGD_ID:2299152 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:9007908 Aortic Coarctation ISO RGD:1353888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Midaortic syndrome PMID:10220506|PMID:11139247|PMID:11180599|PMID:16199547|PMID:24748328|PMID:28492532|PMID:29483232|PMID:30074189|PMID:31343788|PMID:34185059 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1353888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12022040|PMID:9207787|PMID:9207788 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:9008606 Corneal Opacity ISO RGD:1353888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12022040 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:9008681 Deafness ISO RGD:1353888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12022040 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:9008743 Deafness, Congenital Heart Defects, and Posterior Embryotoxon ISO RGD:1353888 D RGD:7240710 20210203 OMIM 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:9008743 Deafness, Congenital Heart Defects, and Posterior Embryotoxon ISO RGD:1353888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, congenital heart defects, and posterior embryotoxon PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11157803|PMID:12022040|PMID:12442286|PMID:12497640|PMID:16575836|PMID:19948535|PMID:20301450|PMID:20437614|PMID:21752016|PMID:22040217|PMID:22487239|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25676721|PMID:25741868|PMID:26760175|PMID:28492532|PMID:9585603 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1353888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:7240710 20180130 OMIM 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar Annotator: match by term: Arteriohepatic dysplasia PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:12022040|PMID:12239725|PMID:12244555|PMID:12297837|PMID:12442286|PMID:12497640|PMID:12649809|PMID:15358557|PMID:15712272|PMID:15772854|PMID:16199547|PMID:16575836|PMID:16875832|PMID:17241866|PMID:17576681|PMID:17720887|PMID:17949281|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:20586101|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22487239|PMID:22488849|PMID:23891399|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25525159|PMID:25676721|PMID:25741868|PMID:26076142|PMID:26548814|PMID:26633542|PMID:26760175|PMID:27256232|PMID:27760138|PMID:28166811|PMID:28372585|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:29783821|PMID:30074189|PMID:30651579|PMID:31343788|PMID:31475041|PMID:33532864|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603|PMID:9700188 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:12239725|PMID:12244555|PMID:12297837|PMID:12497640|PMID:12649809|PMID:15712272|PMID:15772854|PMID:16199547|PMID:16575836|PMID:17241866|PMID:17576681|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:20586101|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22405927|PMID:22487239|PMID:22488849|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25741868|PMID:26076142|PMID:26633542|PMID:26760175|PMID:27760138|PMID:28372585|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:30074189|PMID:30293987|PMID:31343788|PMID:31475041|PMID:33433009|PMID:33532864|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:12239725|PMID:12244555|PMID:12297837|PMID:12497640|PMID:12649809|PMID:15712272|PMID:15772854|PMID:15990638|PMID:16199547|PMID:16575836|PMID:17241866|PMID:17576681|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:20586101|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22405927|PMID:22487239|PMID:22488849|PMID:22759690|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25326637|PMID:25741868|PMID:26076142|PMID:26633542|PMID:26760175|PMID:27760138|PMID:28372585|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:30074189|PMID:30293987|PMID:31343788|PMID:31475041|PMID:33433009|PMID:33532864|PMID:34071626|PMID:34185059|PMID:34746741|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:12239725|PMID:12244555|PMID:12297837|PMID:12497640|PMID:12649809|PMID:15712272|PMID:15772854|PMID:15990638|PMID:16199547|PMID:16575836|PMID:17241866|PMID:17576681|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:20586101|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22405927|PMID:22487239|PMID:22488849|PMID:22759690|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25326637|PMID:25741868|PMID:26076142|PMID:26633542|PMID:26760175|PMID:27760138|PMID:28372585|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:29707407|PMID:30074189|PMID:30293987|PMID:31343788|PMID:31475041|PMID:31595668|PMID:33433009|PMID:33532864|PMID:34071626|PMID:34185059|PMID:34746741|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:12239725|PMID:12244555|PMID:12297837|PMID:12497640|PMID:12649809|PMID:15712272|PMID:15772854|PMID:15990638|PMID:16199547|PMID:16575836|PMID:17241866|PMID:17576681|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:20586101|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22405927|PMID:22487239|PMID:22488849|PMID:22759690|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25741868|PMID:26076142|PMID:26633542|PMID:26760175|PMID:27760138|PMID:28372585|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:29707407|PMID:30074189|PMID:30293987|PMID:31343788|PMID:31475041|PMID:31595668|PMID:32065591|PMID:33433009|PMID:33532864|PMID:34071626|PMID:34185059|PMID:34746741|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:11259677|PMID:12239725|PMID:12244555|PMID:12442286|PMID:12497640|PMID:12649809|PMID:15358557|PMID:15712272|PMID:15772854|PMID:15990638|PMID:16199547|PMID:16575836|PMID:17241866|PMID:17576681|PMID:17720887|PMID:17949281|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22405927|PMID:22487239|PMID:22488849|PMID:22759690|PMID:23891399|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25326637|PMID:25525159|PMID:25606387|PMID:25676721|PMID:25741868|PMID:26076142|PMID:26633542|PMID:26760175|PMID:26785492|PMID:27256232|PMID:27760138|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:29707407|PMID:29783821|PMID:30074189|PMID:30293987|PMID:31343788|PMID:31475041|PMID:31595668|PMID:32065591|PMID:33433009|PMID:33532864|PMID:34071626|PMID:34185059|PMID:34746741|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603|PMID:9700188 11807023 JAG1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar Annotator: match by term: Arteriohepatic dysplasia PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:11259677|PMID:12239725|PMID:12244555|PMID:12442286|PMID:12497640|PMID:12649809|PMID:15358557|PMID:15712272|PMID:15772854|PMID:15990638|PMID:16199547|PMID:16575836|PMID:16875832|PMID:17241866|PMID:17576681|PMID:17720887|PMID:17949281|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22405927|PMID:22487239|PMID:22488849|PMID:22759690|PMID:23891399|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25525159|PMID:25606387|PMID:25676721|PMID:25741868|PMID:26076142|PMID:26633542|PMID:26760175|PMID:26785492|PMID:27256232|PMID:27760138|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:29707407|PMID:29783821|PMID:30074189|PMID:30293987|PMID:31343788|PMID:31475041|PMID:31595668|PMID:32065591|PMID:32733715|PMID:33433009|PMID:33532864|PMID:34071626|PMID:34150014|PMID:34185059|PMID:34746741|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603|PMID:9700188 11807056 SLURP1 secreted LY6/PLAUR domain containing 1 gene DOID:0060862 mal de Meleda ISO RGD:1346067 D RGD:7240710 20210303 OMIM 11807056 SLURP1 secreted LY6/PLAUR domain containing 1 gene DOID:0060862 mal de Meleda ISO RGD:1346067 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS TRANSGREDIENS OF SIEMENS | ClinVar Annotator: match by term: Meleda Disease PMID:11285253|PMID:12483299|PMID:12535203|PMID:12603845|PMID:14674887|PMID:14756676|PMID:17008884|PMID:23290002|PMID:24033266|PMID:24093092|PMID:24604124|PMID:25741868|PMID:28492532|PMID:29231248|PMID:9887370 11807056 SLURP1 secreted LY6/PLAUR domain containing 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1346067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 11807056 SLURP1 secreted LY6/PLAUR domain containing 1 gene DOID:3390 palmoplantar keratosis ISO RGD:1346067 D RGD:9068941 20210305 CTD CTD Direct Evidence: marker/mechanism PMID:25168896 11807056 SLURP1 secreted LY6/PLAUR domain containing 1 gene DOID:3390 palmoplantar keratosis ISO RGD:1346067 D RGD:9068941 20210305 RGD DNA:frameshift mutation, nonsense mutation, snp:cds, intron:p.C28fs32X, p.R96X, IVS2+1G>A (human) PMID:11285253|REF_RGD_ID:1599051 11807056 SLURP1 secreted LY6/PLAUR domain containing 1 gene DOID:4621 holoprosencephaly ISO RGD:1346067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11807063 IRAK1BP1 interleukin 1 receptor associated kinase 1 binding protein 1 gene DOID:0050888 syndromic intellectual disability ISO RGD:1312787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:27900362|PMID:28708303 11807063 IRAK1BP1 interleukin 1 receptor associated kinase 1 binding protein 1 gene DOID:12849 autistic disorder ISO RGD:1312787 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autistic disorder PMID:25741868|PMID:28492532 11807063 IRAK1BP1 interleukin 1 receptor associated kinase 1 binding protein 1 gene DOID:12894 Sjogren's syndrome ISO RGD:1312787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 11807063 IRAK1BP1 interleukin 1 receptor associated kinase 1 binding protein 1 gene DOID:630 genetic disease ISO RGD:1312787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:33004838 11807063 IRAK1BP1 interleukin 1 receptor associated kinase 1 binding protein 1 gene DOID:9000949 DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES ISO RGD:1312787 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM PMID:23033978|PMID:25741868|PMID:28492532|PMID:29209020 11807063 IRAK1BP1 interleukin 1 receptor associated kinase 1 binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312787 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11807071 CDRT4 CMT1A duplicated region transcript 4 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1351857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:1303230|PMID:1677316|PMID:1822787|PMID:28492532 11807071 CDRT4 CMT1A duplicated region transcript 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1351857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:23044707|PMID:25741868|PMID:27569545 11807071 CDRT4 CMT1A duplicated region transcript 4 gene DOID:0110148 Charcot-Marie-Tooth disease type 1A ISO RGD:1351857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA PMID:25741868 11807071 CDRT4 CMT1A duplicated region transcript 4 gene DOID:12849 autistic disorder ISO RGD:1351857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11807071 CDRT4 CMT1A duplicated region transcript 4 gene DOID:5419 schizophrenia ISO RGD:1351857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11807071 CDRT4 CMT1A duplicated region transcript 4 gene DOID:630 genetic disease ISO RGD:1351857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807083 ADRA1A adrenoceptor alpha 1A gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:736081 D RGD:9068941 20200609 RGD PMID:114750|REF_RGD_ID:5688374 11807083 ADRA1A adrenoceptor alpha 1A gene DOID:10763 hypertension ISO RGD:2055 D RGD:9068941 20200609 RGD mRNA:decreased expression:aorta PMID:16371063|REF_RGD_ID:1625770 11807083 ADRA1A adrenoceptor alpha 1A gene DOID:10763 hypertension ISO RGD:736081 D RGD:9068941 20200609 RGD PMID:19011682|REF_RGD_ID:5688340 11807083 ADRA1A adrenoceptor alpha 1A gene DOID:11612 polycystic ovary syndrome ISO RGD:2055 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:ovary PMID:15795180|REF_RGD_ID:5508374 11807083 ADRA1A adrenoceptor alpha 1A gene DOID:13948 bladder neck obstruction ISO RGD:2055 D RGD:9068941 20200609 RGD PMID:20886573|REF_RGD_ID:5688368 11807083 ADRA1A adrenoceptor alpha 1A gene DOID:1596 depressive disorder ISO RGD:736082 D RGD:9068941 20200609 RGD PMID:19540213|REF_RGD_ID:5688369 11807083 ADRA1A adrenoceptor alpha 1A gene DOID:5082 liver cirrhosis ISO RGD:736081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16782692 11807083 ADRA1A adrenoceptor alpha 1A gene DOID:630 genetic disease ISO RGD:736081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807083 ADRA1A adrenoceptor alpha 1A gene DOID:684 hepatocellular carcinoma ISO RGD:736081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11807083 ADRA1A adrenoceptor alpha 1A gene DOID:9000039 Spinal Cord Injuries ISO RGD:2055 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:16524515|REF_RGD_ID:5688371 11807083 ADRA1A adrenoceptor alpha 1A gene DOID:9000998 Brain Injuries ISO RGD:2055 D RGD:9068941 20200609 RGD mRNA:increased expression:frontal cortex PMID:20974230|REF_RGD_ID:5688366 11807083 ADRA1A adrenoceptor alpha 1A gene DOID:9002211 Hyperalgesia ISO RGD:2055 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA:increased expression:dorsal root ganglion PMID:10841349|REF_RGD_ID:5688377 11807083 ADRA1A adrenoceptor alpha 1A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2055 D RGD:9068941 20200609 RGD PMID:17054657|REF_RGD_ID:1625775 11807083 ADRA1A adrenoceptor alpha 1A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19133277 11807083 ADRA1A adrenoceptor alpha 1A gene DOID:9006024 Hypotension ISO RGD:2055 D RGD:9068941 20200609 RGD PMID:12433595|REF_RGD_ID:1625780 11807083 ADRA1A adrenoceptor alpha 1A gene DOID:9006880 Urinary Incontinence ISO RGD:2055 D RGD:9068941 20200609 RGD PMID:16890732|REF_RGD_ID:5688352 11807083 ADRA1A adrenoceptor alpha 1A gene DOID:9007174 Ventricular Remodeling ISO RGD:736081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20668454 11807083 ADRA1A adrenoceptor alpha 1A gene DOID:9008023 Memory Disorders ISO RGD:2055 D RGD:9068941 20200609 RGD associated with brain injuries PMID:20974230|REF_RGD_ID:5688366 11807128 CDH5 cadherin 5 gene DOID:0050535 exudative vitreoretinopathy ISO RGD:1316531 D RGD:9068941 20230511 MouseDO 11807128 CDH5 cadherin 5 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1316530 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11807128 CDH5 cadherin 5 gene DOID:0110255 cataract 5 multiple types ISO RGD:1316530 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 11807128 CDH5 cadherin 5 gene DOID:12236 primary biliary cholangitis ISO RGD:1316530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18422935 11807128 CDH5 cadherin 5 gene DOID:1790 malignant mesothelioma ISO RGD:1316530 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:28377727 11807128 CDH5 cadherin 5 gene DOID:3393 coronary artery disease ISO RGD:1316530 D RGD:9068941 20200609 RGD PMID:14695457|REF_RGD_ID:1598391 11807128 CDH5 cadherin 5 gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:1316530 D RGD:9068941 20220310 RGD PMID:32626543|REF_RGD_ID:151665104 11807128 CDH5 cadherin 5 gene DOID:630 genetic disease ISO RGD:1316530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807128 CDH5 cadherin 5 gene DOID:6432 pulmonary hypertension ISO RGD:1307370 D RGD:9068941 20200924 RGD protein:decreased expression:lung PMID:25593290|REF_RGD_ID:38500244 11807128 CDH5 cadherin 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11807128 CDH5 cadherin 5 gene DOID:9005527 No-Reflow Phenomenon ISO RGD:1316530 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16824628 11807128 CDH5 cadherin 5 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1307370 D RGD:9068941 20200924 RGD protein:decreased expression:lung PMID:25593290|REF_RGD_ID:38500244 11807128 CDH5 cadherin 5 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1316530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11807128 CDH5 cadherin 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 11807128 CDH5 cadherin 5 gene DOID:9008939 Breast Neoplasms ISO RGD:1316530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 11807144 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:0080419 developmental and epileptic encephalopathy 50 ISO RGD:1348167 D RGD:7240710 20180130 OMIM 11807144 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:0080419 developmental and epileptic encephalopathy 50 ISO RGD:1348167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 50 PMID:16199547|PMID:17576681|PMID:25678555|PMID:25741868|PMID:28007989|PMID:28492532|PMID:32117025|PMID:32461667|PMID:32820246|PMID:33497533|PMID:9536098 11807144 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1348167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy PMID:28492532|PMID:32820246|PMID:33497533 11807144 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:0080916 erythroleukemia ISO RGD:1348167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 11807144 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1348167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11807144 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:10923 sickle cell anemia ISO RGD:1348167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 11807144 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:12241 beta thalassemia ISO RGD:1348167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 11807144 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:12971 hereditary spherocytosis ISO RGD:1348167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 11807144 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:1342 congenital hypoplastic anemia ISO RGD:1348167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 11807144 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:1826 epilepsy ISO RGD:1348167 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 11807144 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:3247 rhabdomyosarcoma ISO RGD:1588606 D RGD:9068941 20211119 RGD PMID:7053379|REF_RGD_ID:10755426 11807144 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:4450 renal cell carcinoma ISO RGD:1588606 D RGD:9068941 20211119 RGD PMID:7053379|REF_RGD_ID:10755426 11807144 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:630 genetic disease ISO RGD:1348167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11807144 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:684 hepatocellular carcinoma ISO RGD:1588606 D RGD:9068941 20200609 RGD DNA:amplification:cds (rat) PMID:2914957|REF_RGD_ID:5132587 11807144 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:684 hepatocellular carcinoma ISO RGD:1588606 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:2888462|REF_RGD_ID:2303530 11807144 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:684 hepatocellular carcinoma ISO RGD:1588606 D RGD:9068941 20211119 RGD PMID:7053379|REF_RGD_ID:10755426 11807144 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1588606 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:13618893|REF_RGD_ID:5132586 11807144 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:9002231 Fetal Growth Retardation ISO RGD:1588606 D RGD:9068941 20200609 RGD PMID:3973436|REF_RGD_ID:2303532 11807144 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:9002928 Colonic Neoplasms ISO RGD:1588606 D RGD:9068941 20211119 RGD PMID:7053379|REF_RGD_ID:10755426 11807144 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:1588606 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland PMID:6030068|REF_RGD_ID:2303540 11807144 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1588606 D RGD:9068941 20200609 RGD protein:decreased activity:mammary gland (rat) PMID:1476792|REF_RGD_ID:5132591 11807201 SHE Src homology 2 domain containing E gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1605584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11807201 SHE Src homology 2 domain containing E gene DOID:0060257 dyschromatosis symmetrica hereditaria ISO RGD:1605584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities PMID:22974014|PMID:28492532 11807201 SHE Src homology 2 domain containing E gene DOID:0111940 immunodeficiency 42 ISO RGD:1605584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11807201 SHE Src homology 2 domain containing E gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11807201 SHE Src homology 2 domain containing E gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 11807201 SHE Src homology 2 domain containing E gene DOID:1540 parathyroid carcinoma ISO RGD:1605584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11807201 SHE Src homology 2 domain containing E gene DOID:5812 MHC class II deficiency ISO RGD:1605584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11807201 SHE Src homology 2 domain containing E gene DOID:630 genetic disease ISO RGD:1605584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807201 SHE Src homology 2 domain containing E gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11807211 NPR3 natriuretic peptide receptor 3 gene DOID:0080001 bone disease ISO RGD:11008 D RGD:9068941 20220825 MouseDO 11807211 NPR3 natriuretic peptide receptor 3 gene DOID:10763 hypertension ISO RGD:731641 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-55C>A (human) PMID:12872042|REF_RGD_ID:1580175 11807211 NPR3 natriuretic peptide receptor 3 gene DOID:17 musculoskeletal system disease ISO RGD:11008 D RGD:9068941 20200609 RGD DNA:deletion, missense mutation, nonsense mutation:cds:c.195_232del, c.283C>T, c.502C>A (mouse) PMID:10468599|REF_RGD_ID:1580774 11807211 NPR3 natriuretic peptide receptor 3 gene DOID:630 genetic disease ISO RGD:731641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11807211 NPR3 natriuretic peptide receptor 3 gene DOID:8947 diabetic retinopathy ISO RGD:3196 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina (rat) PMID:15789000|REF_RGD_ID:1580773 11807211 NPR3 natriuretic peptide receptor 3 gene DOID:9002060 BOUDIN-MORTIER SYNDROME ISO RGD:731641 D RGD:7240710 20211020 OMIM 11807211 NPR3 natriuretic peptide receptor 3 gene DOID:9002060 BOUDIN-MORTIER SYNDROME ISO RGD:731641 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Boudin-Mortier syndrome PMID:24559625|PMID:25741868|PMID:30032985 11807211 NPR3 natriuretic peptide receptor 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731641 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 11807211 NPR3 natriuretic peptide receptor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11807211 NPR3 natriuretic peptide receptor 3 gene DOID:9004657 Weight Gain ISO RGD:731641 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11807211 NPR3 natriuretic peptide receptor 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3196 D RGD:9068941 20200609 RGD PMID:15337698|REF_RGD_ID:1580149 11807230 LRRC4C leucine rich repeat containing 4C gene DOID:1059 intellectual disability ISO RGD:1605967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11807230 LRRC4C leucine rich repeat containing 4C gene DOID:630 genetic disease ISO RGD:1605967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807245 DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1602120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11807245 DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:0090019 sitosterolemia ISO RGD:1602120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sitosterolemia PMID:11138003|PMID:11452359|PMID:11668628|PMID:11855938|PMID:11907139|PMID:15054092|PMID:15375183|PMID:16199547|PMID:17228349|PMID:17576681|PMID:17976197|PMID:19111681|PMID:19667188|PMID:20521169|PMID:20543520|PMID:20719861|PMID:21576934|PMID:21729603|PMID:24033266|PMID:24166850|PMID:24423340|PMID:24503134|PMID:25525159|PMID:25665839|PMID:25741868|PMID:26813946|PMID:26892138|PMID:27884173|PMID:28203044|PMID:28492532|PMID:28521186|PMID:28696550|PMID:28771437|PMID:29055934|PMID:29066094|PMID:29353225|PMID:29886606|PMID:30007774|PMID:30528907|PMID:30697800|PMID:30782472|PMID:30833958|PMID:30985648|PMID:31060161|PMID:31064749|PMID:31589614|PMID:31795497|PMID:31901240|PMID:32041611|PMID:32088153|PMID:32166861|PMID:32275988|PMID:32862661|PMID:33217533|PMID:33269076|PMID:33642439|PMID:34505049|PMID:34969652|PMID:9536098 11807245 DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1602120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 PMID:17576681|PMID:26077881|PMID:26130459|PMID:28492532|PMID:32815859|PMID:9536098 11807245 DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1602120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:29068549 11807245 DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:1588 thrombocytopenia ISO RGD:1602120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532|PMID:31064749|PMID:32088153 11807245 DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:2213 hemorrhagic disease ISO RGD:1602120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 11807245 DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:3883 Lynch syndrome ISO RGD:1602120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11807245 DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:630 genetic disease ISO RGD:1602120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11807245 DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:9001723 Sitosterolemia 2 ISO RGD:1602120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sitosterolemia 2 PMID:11099417|PMID:11138003|PMID:11907139|PMID:15054092|PMID:15375183|PMID:16029460|PMID:17228349|PMID:17976197|PMID:19111681|PMID:20521169|PMID:20543520|PMID:20719861|PMID:21729603|PMID:24033266|PMID:24166850|PMID:24423340|PMID:25525159|PMID:25665839|PMID:25741868|PMID:26813946|PMID:27884173|PMID:28203044|PMID:28492532|PMID:28521186|PMID:28696550|PMID:28771437|PMID:29055934|PMID:29353225|PMID:29886606|PMID:30007774|PMID:30528907|PMID:30697800|PMID:30782472|PMID:30833958|PMID:30985648|PMID:31060161|PMID:31064749|PMID:31589614|PMID:31901240|PMID:32041611|PMID:32088153|PMID:32166861|PMID:32275988|PMID:32862661|PMID:33217533|PMID:33269076|PMID:33642439|PMID:34355501|PMID:34505049|PMID:34969652 11807245 DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:9002547 Sitosterolemia 1 ISO RGD:1602120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sitosterolemia 1 PMID:11668628|PMID:17228349|PMID:17976197|PMID:19111681|PMID:20521169|PMID:20719861|PMID:21729603|PMID:24033266|PMID:24166850|PMID:24423340|PMID:24503134|PMID:25525159|PMID:25665839|PMID:25741868|PMID:26813946|PMID:27884173|PMID:28492532|PMID:28521186|PMID:28696550|PMID:29055934|PMID:29066094|PMID:29353225|PMID:29886606|PMID:30528907|PMID:30697800|PMID:30833958|PMID:31060161|PMID:31064749|PMID:31589614|PMID:32041611|PMID:32088153|PMID:32862661|PMID:33217533|PMID:33269076|PMID:34969652 11807245 DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:9004314 Short-Rib Thoracic Dysplasia 15 with Polydactyly ISO RGD:1602120 D RGD:7240710 20190315 OMIM 11807245 DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:9004314 Short-Rib Thoracic Dysplasia 15 with Polydactyly ISO RGD:1602120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 15 with polydactyly PMID:17576681|PMID:25741868|PMID:26077881|PMID:26130459|PMID:28492532|PMID:28857138|PMID:32815859|PMID:8960501|PMID:9536098 11807278 LOC100993654 pancreatic lipase-related protein 2 gene DOID:630 genetic disease ISO RGD:733600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807296 SLC17A1 solute carrier family 17 member 1 gene DOID:630 genetic disease ISO RGD:1350724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807296 SLC17A1 solute carrier family 17 member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 11807319 PRR23A proline rich 23A gene DOID:630 genetic disease ISO RGD:2312708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807344 ZNF136 zinc finger protein 136 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1345728 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11807344 ZNF136 zinc finger protein 136 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1345728 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11807344 ZNF136 zinc finger protein 136 gene DOID:0111254 glutaric acidemia I ISO RGD:1345728 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11807344 ZNF136 zinc finger protein 136 gene DOID:10283 prostate cancer ISO RGD:1345728 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11807344 ZNF136 zinc finger protein 136 gene DOID:3413 alpha-mannosidosis ISO RGD:1345728 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11807344 ZNF136 zinc finger protein 136 gene DOID:630 genetic disease ISO RGD:1345728 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807405 DCTN4 dynactin subunit 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736897 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11807405 DCTN4 dynactin subunit 4 gene DOID:1485 cystic fibrosis ISO RGD:736897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22772370 11807405 DCTN4 dynactin subunit 4 gene DOID:630 genetic disease ISO RGD:736897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807405 DCTN4 dynactin subunit 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736897 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11807405 DCTN4 dynactin subunit 4 gene DOID:9007417 Pseudomonas Infections ISO RGD:736897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22772370 11807426 CEP85 centrosomal protein 85 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1604312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 11807426 CEP85 centrosomal protein 85 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1604312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 11807426 CEP85 centrosomal protein 85 gene DOID:630 genetic disease ISO RGD:1604312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807450 CST3 cystatin C gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:736914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 11807450 CST3 cystatin C gene DOID:0070027 CST3-related cerebral amyloid angiopathy ISO RGD:736914 D RGD:7240710 20180130 OMIM 11807450 CST3 cystatin C gene DOID:0070027 CST3-related cerebral amyloid angiopathy ISO RGD:736914 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary cerebral amyloid angiopathy, Icelandic type PMID:11815350|PMID:2363674|PMID:2567273|PMID:25741868|PMID:25893795|PMID:28492532|PMID:2900981|PMID:33116287|PMID:8108423 11807450 CST3 cystatin C gene DOID:0110023 age related macular degeneration 11 ISO RGD:736914 D RGD:7240710 20180130 OMIM 11807450 CST3 cystatin C gene DOID:0110023 age related macular degeneration 11 ISO RGD:736914 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 11 PMID:11815350|PMID:25741868|PMID:25893795|PMID:28492532|PMID:33116287 11807450 CST3 cystatin C gene DOID:10591 pre-eclampsia ISO RGD:736914 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:18197549|REF_RGD_ID:2314350 11807450 CST3 cystatin C gene DOID:10652 Alzheimer's disease ISO RGD:736914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17192785|PMID:18026100 11807450 CST3 cystatin C gene DOID:10652 Alzheimer's disease ISO RGD:736914 D RGD:9068941 20200806 RGD protein:increased expression:plasma PMID:15907478|REF_RGD_ID:1358533 11807450 CST3 cystatin C gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:736914 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:18824671|REF_RGD_ID:2314333 11807450 CST3 cystatin C gene DOID:10941 intracranial aneurysm ISO RGD:2432 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain, artery PMID:18635848|REF_RGD_ID:2306495 11807450 CST3 cystatin C gene DOID:10941 intracranial aneurysm ISO RGD:736914 D RGD:9068941 20200609 RGD protein:decreased expression:brain, artery PMID:18635848|REF_RGD_ID:2306495 11807450 CST3 cystatin C gene DOID:11758 iron deficiency anemia ISO RGD:2432 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:18723004|REF_RGD_ID:2301196 11807450 CST3 cystatin C gene DOID:12842 Guillain-Barre syndrome ISO RGD:736914 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:11134381|REF_RGD_ID:5686395 11807450 CST3 cystatin C gene DOID:1287 cardiovascular system disease ISO RGD:736914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21356263 11807450 CST3 cystatin C gene DOID:1389 polyneuropathy ISO RGD:736914 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:11134381|REF_RGD_ID:5686395 11807450 CST3 cystatin C gene DOID:2316 brain ischemia ISO RGD:736914 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:18261165|REF_RGD_ID:2314349 11807450 CST3 cystatin C gene DOID:2377 multiple sclerosis ISO RGD:10415 D RGD:9068941 20200609 RGD PMID:17086443|REF_RGD_ID:5686392 11807450 CST3 cystatin C gene DOID:2377 multiple sclerosis ISO RGD:736914 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:12589965|REF_RGD_ID:5686394 11807450 CST3 cystatin C gene DOID:3021 acute kidney failure ISO RGD:736914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22005293|PMID:28885000 11807450 CST3 cystatin C gene DOID:3393 coronary artery disease ISO RGD:736914 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:17983622|REF_RGD_ID:2314352 11807450 CST3 cystatin C gene DOID:341 peripheral vascular disease ISO RGD:736914 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19761940|REF_RGD_ID:2314304 11807450 CST3 cystatin C gene DOID:3565 meningioma ISO RGD:736914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19747051 11807450 CST3 cystatin C gene DOID:557 kidney disease ISO RGD:736914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22525860|PMID:24863737 11807450 CST3 cystatin C gene DOID:557 kidney disease onset ISO RGD:736914 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human) PMID:19291539|REF_RGD_ID:2314320 11807450 CST3 cystatin C gene DOID:5773 oral submucous fibrosis ISO RGD:736914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 11807450 CST3 cystatin C gene DOID:6000 congestive heart failure susceptibility ISO RGD:736914 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19539088|REF_RGD_ID:2314311 11807450 CST3 cystatin C gene DOID:630 genetic disease ISO RGD:736914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807450 CST3 cystatin C gene DOID:9000046 Poisoning ISO RGD:736914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22525860 11807450 CST3 cystatin C gene DOID:9000965 Neoplasm Metastasis ISO RGD:736914 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:12589965|REF_RGD_ID:5686394 11807450 CST3 cystatin C gene DOID:9001542 Albuminuria ISO RGD:736914 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human) PMID:19596469|REF_RGD_ID:2314309 11807450 CST3 cystatin C gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:736914 D RGD:9068941 20200609 RGD associated with Myocardial Infarction;protein:increased expression:serum (human) PMID:19741512|REF_RGD_ID:2314308 11807450 CST3 cystatin C gene DOID:9002165 Diabetic Nephropathies ISO RGD:2432 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:18946178|REF_RGD_ID:2314297 11807450 CST3 cystatin C gene DOID:9002165 Diabetic Nephropathies ISO RGD:736914 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19132849|REF_RGD_ID:2314328 11807450 CST3 cystatin C gene DOID:9002801 Recurrence ISO RGD:736914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19747051 11807450 CST3 cystatin C gene DOID:9004492 Familial Amyloidosis ISO RGD:736914 D RGD:9068941 20200609 RGD protein:missense mutation:cds:p.L68Q (human) PMID:3517880|REF_RGD_ID:2314354 11807450 CST3 cystatin C gene DOID:9006646 Metabolic Syndrome ISO RGD:736914 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19887833|REF_RGD_ID:2314295 11807450 CST3 cystatin C gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 11807450 CST3 cystatin C gene DOID:9007692 Insulin Resistance ISO RGD:736914 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human) PMID:19765773|REF_RGD_ID:2314305 11807450 CST3 cystatin C gene DOID:9007980 Sleep Deprivation ISO RGD:2432 D RGD:9068941 20200609 RGD PMID:17027151|REF_RGD_ID:2306498 11807450 CST3 cystatin C gene DOID:9119 acute myeloid leukemia ISO RGD:736914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11807450 CST3 cystatin C gene DOID:9352 type 2 diabetes mellitus ISO RGD:736914 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19887833|REF_RGD_ID:2314295 11807450 CST3 cystatin C gene DOID:9970 obesity ISO RGD:2432 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:18946178|REF_RGD_ID:2314297 11807450 CST3 cystatin C gene DOID:9970 obesity ISO RGD:736914 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:18374694|REF_RGD_ID:2314346 11807460 SLC35F2 solute carrier family 35 member F2 gene DOID:1059 intellectual disability ISO RGD:1344599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11807460 SLC35F2 solute carrier family 35 member F2 gene DOID:12704 ataxia telangiectasia ISO RGD:1344599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11807460 SLC35F2 solute carrier family 35 member F2 gene DOID:630 genetic disease ISO RGD:1344599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807460 SLC35F2 solute carrier family 35 member F2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1344599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11807475 GPX8 glutathione peroxidase 8 (putative) gene DOID:630 genetic disease ISO RGD:1603792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807475 GPX8 glutathione peroxidase 8 (putative) gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603792 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11807475 GPX8 glutathione peroxidase 8 (putative) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11807486 PLPPR1 phospholipid phosphatase related 1 gene DOID:630 genetic disease ISO RGD:1603210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807502 PLSCR2 phospholipid scramblase 2 gene DOID:630 genetic disease ISO RGD:1353834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807502 PLSCR2 phospholipid scramblase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353834 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11807532 ZNF791 zinc finger protein 791 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1605566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11807532 ZNF791 zinc finger protein 791 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1605566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11807532 ZNF791 zinc finger protein 791 gene DOID:0111254 glutaric acidemia I ISO RGD:1605566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11807532 ZNF791 zinc finger protein 791 gene DOID:3413 alpha-mannosidosis ISO RGD:1605566 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11807532 ZNF791 zinc finger protein 791 gene DOID:630 genetic disease ISO RGD:1605566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807539 PLTP phospholipid transfer protein gene DOID:0080540 galactosialidosis ISO RGD:1315460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined deficiency of sialidase AND beta galactosidase 11807539 PLTP phospholipid transfer protein gene DOID:10140 dry eye syndrome ISO RGD:1315461 D RGD:9068941 20220825 MouseDO 11807539 PLTP phospholipid transfer protein gene DOID:1936 atherosclerosis ISO RGD:1315460 D RGD:9068941 20200609 RGD protein:increased expression:coronary artery (human) PMID:12835223|REF_RGD_ID:1581039 11807539 PLTP phospholipid transfer protein gene DOID:2234 focal epilepsy ISO RGD:1315460 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11807539 PLTP phospholipid transfer protein gene DOID:630 genetic disease ISO RGD:1315460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11807539 PLTP phospholipid transfer protein gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1315460 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11807539 PLTP phospholipid transfer protein gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1315460 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:14695459|REF_RGD_ID:1581038 11807539 PLTP phospholipid transfer protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11807539 PLTP phospholipid transfer protein gene DOID:9003370 Dyslipidemias ISO RGD:1315460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17952847 11807539 PLTP phospholipid transfer protein gene DOID:9006599 Hypertriglyceridemia ISO RGD:1315460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12754275 11807539 PLTP phospholipid transfer protein gene DOID:9007692 Insulin Resistance ISO RGD:1315460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12754275 11807562 KXD1 KxDL motif containing 1 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1622240 D RGD:9068941 20220825 MouseDO 11807562 KXD1 KxDL motif containing 1 gene DOID:630 genetic disease ISO RGD:1601969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807562 KXD1 KxDL motif containing 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1601969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11807580 ACOXL acyl-CoA oxidase like gene DOID:630 genetic disease ISO RGD:1315641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807580 ACOXL acyl-CoA oxidase like gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1315641 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770605 11807602 PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial gene DOID:0060439 lysinuric protein intolerance ISO RGD:1322394 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11807602 PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial gene DOID:0080600 COVID-19 ISO RGD:1322394 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11807602 PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1322394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11807602 PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial gene DOID:9000265 Specific Granule Deficiency ISO RGD:1322394 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11807602 PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial gene DOID:9000520 Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial ISO RGD:1322394 D RGD:7240710 20190306 OMIM 11807602 PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial gene DOID:9000520 Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial ISO RGD:1322394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PCK2-related neuropathy | ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial PMID:24033266|PMID:25741868|PMID:28492532 11807602 PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11807602 PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial gene DOID:9002669 Hypoxia ISO RGD:1322394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18258771 11807602 PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1322394 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11807602 PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial gene DOID:9005930 Endotoxemia ISO RGD:1311112 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression,decreased activity:liver: PMID:19268478|REF_RGD_ID:10427879 11807628 CSMD2 CUB and Sushi multiple domains 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1347365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11807628 CSMD2 CUB and Sushi multiple domains 2 gene DOID:10283 prostate cancer ISO RGD:1347365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11807628 CSMD2 CUB and Sushi multiple domains 2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1347365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:28332277 11807628 CSMD2 CUB and Sushi multiple domains 2 gene DOID:630 genetic disease ISO RGD:1347365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807721 VSTM1 V-set and transmembrane domain containing 1 gene DOID:630 genetic disease ISO RGD:1604181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807731 PTGR1 prostaglandin reductase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732819 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11807731 PTGR1 prostaglandin reductase 1 gene DOID:630 genetic disease ISO RGD:732819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807731 PTGR1 prostaglandin reductase 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:621195 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:24853774|REF_RGD_ID:14401713 11807748 ASIC1 acid sensing ion channel subunit 1 gene DOID:1826 epilepsy ISO RGD:731360 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11807748 ASIC1 acid sensing ion channel subunit 1 gene DOID:2316 brain ischemia ISO RGD:731360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21307247 11807748 ASIC1 acid sensing ion channel subunit 1 gene DOID:630 genetic disease ISO RGD:731360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807748 ASIC1 acid sensing ion channel subunit 1 gene DOID:9000998 Brain Injuries ISO RGD:731360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21307247 11807748 ASIC1 acid sensing ion channel subunit 1 gene DOID:9005372 Inflammation ISO RGD:731360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11588175 11807768 OGA O-GlcNAcase gene DOID:630 genetic disease ISO RGD:732641 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807768 OGA O-GlcNAcase gene DOID:9004009 Reperfusion Injury ISO RGD:621077 D RGD:9068941 20200609 RGD PMID:16899550|REF_RGD_ID:2305957 11807790 CASKIN1 CASK interacting protein 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1351061 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 11807790 CASKIN1 CASK interacting protein 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1351061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 11807790 CASKIN1 CASK interacting protein 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1351061 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11807790 CASKIN1 CASK interacting protein 1 gene DOID:1826 epilepsy ISO RGD:1351061 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11807790 CASKIN1 CASK interacting protein 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1351061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11807790 CASKIN1 CASK interacting protein 1 gene DOID:2871 endometrial carcinoma ISO RGD:1351061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 11807790 CASKIN1 CASK interacting protein 1 gene DOID:630 genetic disease ISO RGD:1351061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807790 CASKIN1 CASK interacting protein 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1351061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 11807813 DIO1 iodothyronine deiodinase 1 gene DOID:2855 hyperthyroxinemia ISO RGD:735269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3346351 11807813 DIO1 iodothyronine deiodinase 1 gene DOID:50 thyroid gland disease ISO RGD:735269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17105838 11807813 DIO1 iodothyronine deiodinase 1 gene DOID:630 genetic disease ISO RGD:735269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807813 DIO1 iodothyronine deiodinase 1 gene DOID:655 inherited metabolic disorder ISO RGD:735269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17105838 11807813 DIO1 iodothyronine deiodinase 1 gene DOID:9000651 Abnormal Thyroid Hormone Metabolism 2 ISO RGD:735269 D RGD:7240710 20220427 OMIM 11807813 DIO1 iodothyronine deiodinase 1 gene DOID:9000651 Abnormal Thyroid Hormone Metabolism 2 ISO RGD:735269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Thyroid hormone metabolism, abnormal, 2 PMID:32718224 11807813 DIO1 iodothyronine deiodinase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 11807813 DIO1 iodothyronine deiodinase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2504 D RGD:9068941 20200609 RGD PMID:11765219|REF_RGD_ID:727335 11807824 PDXK pyridoxal kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621324 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:3225873|REF_RGD_ID:2303021 11807840 GLRB glycine receptor beta gene DOID:0060695 hyperekplexia ISO RGD:731361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperekplexia 11807840 GLRB glycine receptor beta gene DOID:0060697 hyperekplexia 2 ISO RGD:731361 D RGD:7240710 20180130 OMIM 11807840 GLRB glycine receptor beta gene DOID:0060697 hyperekplexia 2 ISO RGD:731361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyperekplexia 2 PMID:11929858|PMID:16199547|PMID:17576681|PMID:21391991|PMID:22532536|PMID:23182654|PMID:23184146|PMID:25640679|PMID:25741868|PMID:28492532|PMID:32911248|PMID:33323420|PMID:9536098 11807840 GLRB glycine receptor beta gene DOID:13366 Stiff-Person syndrome ISO RGD:731361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11807840 GLRB glycine receptor beta gene DOID:630 genetic disease ISO RGD:731361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23184146|PMID:28492532 11807857 CBR3 carbonyl reductase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1320224 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11807857 CBR3 carbonyl reductase 3 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1320224 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11807857 CBR3 carbonyl reductase 3 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1320224 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11807857 CBR3 carbonyl reductase 3 gene DOID:630 genetic disease ISO RGD:1320224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807857 CBR3 carbonyl reductase 3 gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1320224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 11807857 CBR3 carbonyl reductase 3 gene DOID:9007364 Mouth Neoplasms ISO RGD:1320224 D RGD:9068941 20200609 RGD mRNA:decreased expression:oral squamous cell carcinoma (human) PMID:19088887|REF_RGD_ID:2316291 11807864 HSPA4L heat shock protein family A (Hsp70) member 4 like gene DOID:0110722 neuronal ceroid lipofuscinosis 7 ISO RGD:1350877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 PMID:19177532|PMID:28492532 11807864 HSPA4L heat shock protein family A (Hsp70) member 4 like gene DOID:630 genetic disease ISO RGD:1350877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807887 CRTC3 CREB regulated transcription coactivator 3 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1604314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 11807887 CRTC3 CREB regulated transcription coactivator 3 gene DOID:10283 prostate cancer ISO RGD:1604314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11807887 CRTC3 CREB regulated transcription coactivator 3 gene DOID:2717 Bloom syndrome ISO RGD:1604314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11807887 CRTC3 CREB regulated transcription coactivator 3 gene DOID:630 genetic disease ISO RGD:1604314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807887 CRTC3 CREB regulated transcription coactivator 3 gene DOID:9256 colorectal cancer ISO RGD:1604314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11807906 EME2 essential meiotic structure-specific endonuclease subunit 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1344240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 11807906 EME2 essential meiotic structure-specific endonuclease subunit 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1344240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11807906 EME2 essential meiotic structure-specific endonuclease subunit 2 gene DOID:0111492 combined oxidative phosphorylation deficiency 32 ISO RGD:1344240 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 32 PMID:25741868|PMID:28492532|PMID:28777931|PMID:35326425 11807906 EME2 essential meiotic structure-specific endonuclease subunit 2 gene DOID:1826 epilepsy ISO RGD:1344240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11807906 EME2 essential meiotic structure-specific endonuclease subunit 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11807906 EME2 essential meiotic structure-specific endonuclease subunit 2 gene DOID:3652 Leigh disease ISO RGD:1344240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:28777931 11807906 EME2 essential meiotic structure-specific endonuclease subunit 2 gene DOID:630 genetic disease ISO RGD:1344240 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11807919 ATF2 activating transcription factor 2 gene DOID:0050702 neonatal period electroclinical syndrome ISO RGD:12390251 D RGD:9068941 20220630 OMIA Neonatal encephalopathy with seizures PMID:18074159|PMID:33244473 11807919 ATF2 activating transcription factor 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:732287 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11807919 ATF2 activating transcription factor 2 gene DOID:10652 Alzheimer's disease ISO RGD:732287 D RGD:9068941 20200609 RGD PMID:15878807|PMID:9138733|REF_RGD_ID:10047399|REF_RGD_ID:10047400 11807919 ATF2 activating transcription factor 2 gene DOID:10763 hypertension ISO RGD:621862 D RGD:9068941 20200609 RGD PMID:11358932|REF_RGD_ID:10047414 11807919 ATF2 activating transcription factor 2 gene DOID:11049 meconium aspiration syndrome ISO RGD:736761 D RGD:9068941 20220825 MouseDO 11807919 ATF2 activating transcription factor 2 gene DOID:11870 Pick's disease ISO RGD:732287 D RGD:9068941 20200609 RGD PMID:16496165|REF_RGD_ID:10047401 11807919 ATF2 activating transcription factor 2 gene DOID:12858 Huntington's disease ISO RGD:732287 D RGD:9068941 20200609 RGD PMID:15878807|REF_RGD_ID:10047400 11807919 ATF2 activating transcription factor 2 gene DOID:14566 disease of cellular proliferation ISO RGD:732287 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23591579 11807919 ATF2 activating transcription factor 2 gene DOID:1686 glaucoma ISO RGD:621862 D RGD:9068941 20200609 RGD PMID:17586494|REF_RGD_ID:10047416 11807919 ATF2 activating transcription factor 2 gene DOID:224 transient cerebral ischemia ISO RGD:621862 D RGD:9068941 20200609 RGD PMID:10077326|PMID:9813301|REF_RGD_ID:10047405|REF_RGD_ID:10047413 11807919 ATF2 activating transcription factor 2 gene DOID:2256 osteochondrodysplasia ISO RGD:736761 D RGD:9068941 20220825 MouseDO OMIM:215050 11807919 ATF2 activating transcription factor 2 gene DOID:5419 schizophrenia ISO RGD:732287 D RGD:9068941 20200609 RGD protein:increased expression:cerebellar vermis PMID:10891039|REF_RGD_ID:10047412 11807919 ATF2 activating transcription factor 2 gene DOID:630 genetic disease ISO RGD:732287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807919 ATF2 activating transcription factor 2 gene DOID:9000918 Disease Progression ISO RGD:732287 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23591579 11807919 ATF2 activating transcription factor 2 gene DOID:9004001 Facial Nerve Injuries ISO RGD:621862 D RGD:9068941 20200609 RGD PMID:9813301|REF_RGD_ID:10047413 11807919 ATF2 activating transcription factor 2 gene DOID:9005930 Endotoxemia ISO RGD:621862 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:small intestine mucosa PMID:21641970|REF_RGD_ID:5135029 11807919 ATF2 activating transcription factor 2 gene DOID:9005930 Endotoxemia treatment ISO RGD:621862 D RGD:9068941 20200609 RGD PMID:24312512|REF_RGD_ID:10047418 11807919 ATF2 activating transcription factor 2 gene DOID:9008091 Optic Nerve Injuries ISO RGD:621862 D RGD:9068941 20200609 RGD PMID:10366744|REF_RGD_ID:10047417 11807937 ZNF205 zinc finger protein 205 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1312095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11807937 ZNF205 zinc finger protein 205 gene DOID:11612 polycystic ovary syndrome ISO RGD:1312095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11807937 ZNF205 zinc finger protein 205 gene DOID:1826 epilepsy ISO RGD:1312095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11807937 ZNF205 zinc finger protein 205 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1312095 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11807937 ZNF205 zinc finger protein 205 gene DOID:630 genetic disease ISO RGD:1312095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807958 ZNF449 zinc finger protein 449 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11807958 ZNF449 zinc finger protein 449 gene DOID:12849 autistic disorder ISO RGD:1348166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11807958 ZNF449 zinc finger protein 449 gene DOID:630 genetic disease ISO RGD:1348166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807958 ZNF449 zinc finger protein 449 gene DOID:9007661 Dwarfism ISO RGD:1348166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11807970 HSPBAP1 HSPB1 associated protein 1 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1352308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 11807970 HSPBAP1 HSPB1 associated protein 1 gene DOID:630 genetic disease ISO RGD:1352308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11807970 HSPBAP1 HSPB1 associated protein 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1352308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 11807970 HSPBAP1 HSPB1 associated protein 1 gene DOID:9270 alkaptonuria ISO RGD:1352308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11807993 NINJ1 ninjurin 1 gene DOID:0080600 COVID-19 ISO RGD:737046 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11807993 NINJ1 ninjurin 1 gene DOID:3042 allergic contact dermatitis ISO RGD:737046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 11807993 NINJ1 ninjurin 1 gene DOID:630 genetic disease ISO RGD:737046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808006 MYBL1 MYB proto-oncogene like 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1315840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11808006 MYBL1 MYB proto-oncogene like 1 gene DOID:0080600 COVID-19 ISO RGD:1315840 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11808006 MYBL1 MYB proto-oncogene like 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1315840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11808006 MYBL1 MYB proto-oncogene like 1 gene DOID:3070 high grade glioma ISO RGD:1315840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23583981 11808006 MYBL1 MYB proto-oncogene like 1 gene DOID:630 genetic disease ISO RGD:1315840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808032 HNRNPC heterogeneous nuclear ribonucleoprotein C gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1320619 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:28492532 11808032 HNRNPC heterogeneous nuclear ribonucleoprotein C gene DOID:1936 atherosclerosis ISO RGD:1320619 D RGD:9068941 20200609 RGD protein:increased expression:internal carotid artery, smooth muscle cell (human) PMID:18508286|REF_RGD_ID:10054381 11808032 HNRNPC heterogeneous nuclear ribonucleoprotein C gene DOID:4362 cervical cancer ISO RGD:1320619 D RGD:9068941 20200609 RGD protein:increased expression:cervical epithelium (human) PMID:19319956|REF_RGD_ID:10054394 11808032 HNRNPC heterogeneous nuclear ribonucleoprotein C gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1320619 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 11808032 HNRNPC heterogeneous nuclear ribonucleoprotein C gene DOID:630 genetic disease ISO RGD:1320619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808032 HNRNPC heterogeneous nuclear ribonucleoprotein C gene DOID:9004610 Acute Lung Injury ISO RGD:1320620 D RGD:9068941 20200609 RGD protein:altered localization:lung (mouse) PMID:19029002|REF_RGD_ID:10054390 11808032 HNRNPC heterogeneous nuclear ribonucleoprotein C gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1320619 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11808075 EFCAB12 EF-hand calcium binding domain 12 gene DOID:0111947 immunodeficiency 21 ISO RGD:1602666 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 11808075 EFCAB12 EF-hand calcium binding domain 12 gene DOID:630 genetic disease ISO RGD:1602666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808075 EFCAB12 EF-hand calcium binding domain 12 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1602666 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 11808075 EFCAB12 EF-hand calcium binding domain 12 gene DOID:9270 alkaptonuria ISO RGD:1602666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11808093 BOD1L1 biorientation of chromosomes in cell division 1 like 1 gene DOID:630 genetic disease ISO RGD:1344806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808128 GOT2 glutamic-oxaloacetic transaminase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:734091 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:25741868|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059|PMID:31422819 11808128 GOT2 glutamic-oxaloacetic transaminase 2 gene DOID:0080715 developmental and epileptic encephalopathy 82 ISO RGD:734091 D RGD:7240710 20200101 OMIM 11808128 GOT2 glutamic-oxaloacetic transaminase 2 gene DOID:0080715 developmental and epileptic encephalopathy 82 ISO RGD:734091 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 82 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82 PMID:25741868|PMID:28492532|PMID:31422819 11808128 GOT2 glutamic-oxaloacetic transaminase 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:734091 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:25741868|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059|PMID:31422819 11808128 GOT2 glutamic-oxaloacetic transaminase 2 gene DOID:1289 neurodegenerative disease ISO RGD:2722 D RGD:9068941 20200609 RGD protein:decreased expression:striatum (rat) PMID:26631339|REF_RGD_ID:11352733 11808128 GOT2 glutamic-oxaloacetic transaminase 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:734091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11808128 GOT2 glutamic-oxaloacetic transaminase 2 gene DOID:3021 acute kidney failure ISO RGD:2722 D RGD:9068941 20200609 RGD protein:decreased activity:kidney (rat) PMID:23924727|REF_RGD_ID:13506245 11808128 GOT2 glutamic-oxaloacetic transaminase 2 gene DOID:5419 schizophrenia ISO RGD:2722 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex (rat) PMID:23942359|REF_RGD_ID:11571618 11808128 GOT2 glutamic-oxaloacetic transaminase 2 gene DOID:630 genetic disease ISO RGD:734091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11808128 GOT2 glutamic-oxaloacetic transaminase 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2722 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (rat) PMID:27150525|REF_RGD_ID:13506243 11808128 GOT2 glutamic-oxaloacetic transaminase 2 gene DOID:9004283 Transplant Rejection treatment ISO RGD:2722 D RGD:9068941 20200609 RGD PMID:28596681|REF_RGD_ID:13504864 11808128 GOT2 glutamic-oxaloacetic transaminase 2 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:2722 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (rat) PMID:19823174|REF_RGD_ID:4145499 11808128 GOT2 glutamic-oxaloacetic transaminase 2 gene DOID:9007956 Febrile Seizures ISO RGD:2722 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:24373994|REF_RGD_ID:13504853 11808128 GOT2 glutamic-oxaloacetic transaminase 2 gene DOID:9970 obesity ISO RGD:2722 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle tissue, T-tubule (rat) PMID:23743348|REF_RGD_ID:11041118 11808147 MS4A1 membrane spanning 4-domains A1 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1323750 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:25741868 11808147 MS4A1 membrane spanning 4-domains A1 gene DOID:0081148 common variable immunodeficiency 5 ISO RGD:1323750 D RGD:7240710 20190710 OMIM 11808147 MS4A1 membrane spanning 4-domains A1 gene DOID:0081148 common variable immunodeficiency 5 ISO RGD:1323750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 5 PMID:25741868|PMID:28492532 11808147 MS4A1 membrane spanning 4-domains A1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1323750 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11808147 MS4A1 membrane spanning 4-domains A1 gene DOID:1059 intellectual disability ISO RGD:1323750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11808147 MS4A1 membrane spanning 4-domains A1 gene DOID:12177 common variable immunodeficiency ISO RGD:1323750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11808147 MS4A1 membrane spanning 4-domains A1 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1323750 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 11808147 MS4A1 membrane spanning 4-domains A1 gene DOID:1749 squamous cell carcinoma ISO RGD:1323750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22514692 11808147 MS4A1 membrane spanning 4-domains A1 gene DOID:2921 glomerulonephritis ISO RGD:1311999 D RGD:9068941 20200609 RGD protein:increased expression:kidney, glomerulus (rat) PMID:7538648|REF_RGD_ID:2316995 11808147 MS4A1 membrane spanning 4-domains A1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1323750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22514692 11808147 MS4A1 membrane spanning 4-domains A1 gene DOID:3910 lung adenocarcinoma ISO RGD:1323750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22514692 11808147 MS4A1 membrane spanning 4-domains A1 gene DOID:5119 ovarian cyst ISO RGD:1323750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 11808147 MS4A1 membrane spanning 4-domains A1 gene DOID:630 genetic disease ISO RGD:1323750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11808147 MS4A1 membrane spanning 4-domains A1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1323750 D RGD:9068941 20200609 RGD PMID:19911856|REF_RGD_ID:2316994 11808170 RNF224 ring finger protein 224 gene DOID:0050777 Joubert syndrome ISO RGD:5132816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11808170 RNF224 ring finger protein 224 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:5132816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 11808170 RNF224 ring finger protein 224 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:5132816 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 11808170 RNF224 ring finger protein 224 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:5132816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11808170 RNF224 ring finger protein 224 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:5132816 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11808170 RNF224 ring finger protein 224 gene DOID:0081097 Rafiq syndrome ISO RGD:5132816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11808170 RNF224 ring finger protein 224 gene DOID:1826 epilepsy ISO RGD:5132816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11808170 RNF224 ring finger protein 224 gene DOID:630 genetic disease ISO RGD:5132816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808170 RNF224 ring finger protein 224 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:5132816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11808177 NUP160 nucleoporin 160 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1322303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11808177 NUP160 nucleoporin 160 gene DOID:0080394 nephrotic syndrome type 19 ISO RGD:1322303 D RGD:7240710 20190315 OMIM 11808177 NUP160 nucleoporin 160 gene DOID:0080394 nephrotic syndrome type 19 ISO RGD:1322303 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 19 PMID:25741868|PMID:28492532|PMID:30179222 11808177 NUP160 nucleoporin 160 gene DOID:1059 intellectual disability ISO RGD:1322303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11808177 NUP160 nucleoporin 160 gene DOID:630 genetic disease ISO RGD:1322303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11808221 ZMAT3 zinc finger matrin-type 3 gene DOID:0111546 Currarino syndrome ISO RGD:1602466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11808221 ZMAT3 zinc finger matrin-type 3 gene DOID:10283 prostate cancer ISO RGD:1602466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11808221 ZMAT3 zinc finger matrin-type 3 gene DOID:630 genetic disease ISO RGD:1602466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808221 ZMAT3 zinc finger matrin-type 3 gene DOID:9002955 Nerve Degeneration ISO RGD:1602466 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17234339 11808238 TMC1 transmembrane channel like 1 gene DOID:0050563 nonsyndromic deafness ISO RGD:1318596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:18616530|PMID:19187973|PMID:21917145|PMID:24033266 11808238 TMC1 transmembrane channel like 1 gene DOID:0050563 nonsyndromic deafness ISO RGD:1318596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness PMID:26969326|PMID:29654653|PMID:34416374 11808238 TMC1 transmembrane channel like 1 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1318596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:11850618|PMID:16134132|PMID:17877751|PMID:18414213|PMID:19187973|PMID:20373850|PMID:22105175|PMID:24033266|PMID:24416283|PMID:24949729|PMID:25491636|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30303587|PMID:31854501|PMID:32747562 11808238 TMC1 transmembrane channel like 1 gene DOID:0110520 autosomal recessive nonsyndromic deafness 7 ISO RGD:1318596 D RGD:7240710 20180130 OMIM 11808238 TMC1 transmembrane channel like 1 gene DOID:0110520 autosomal recessive nonsyndromic deafness 7 ISO RGD:1318596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11 | ClinVar Annotator: match by term: Deafness, autosomal recessive 7 PMID:11850618|PMID:16134132|PMID:16199547|PMID:17576681|PMID:17877751|PMID:18414213|PMID:18616530|PMID:19187973|PMID:20373850|PMID:21250555|PMID:21252500|PMID:21917145|PMID:22105175|PMID:22607986|PMID:23208854|PMID:23767834|PMID:24033266|PMID:24416283|PMID:24875298|PMID:24949729|PMID:25491636|PMID:25741868|PMID:26467025|PMID:26969326|PMID:27068579|PMID:28492532|PMID:29654653|PMID:30303587|PMID:31028865|PMID:31541171|PMID:31854501|PMID:32747562|PMID:33724713|PMID:34416374|PMID:9536098 11808238 TMC1 transmembrane channel like 1 gene DOID:0110563 autosomal dominant nonsyndromic deafness 36 ISO RGD:1318596 D RGD:7240710 20180130 OMIM 11808238 TMC1 transmembrane channel like 1 gene DOID:0110563 autosomal dominant nonsyndromic deafness 36 ISO RGD:1318596 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 36 PMID:11850618|PMID:15354000|PMID:16134132|PMID:16199547|PMID:16287143|PMID:17250663|PMID:17576681|PMID:18616530|PMID:19180119|PMID:19187973|PMID:21250555|PMID:21252500|PMID:22105175|PMID:22607986|PMID:23208854|PMID:23767834|PMID:24033266|PMID:24416283|PMID:24827932|PMID:25388789|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28501645|PMID:30303587|PMID:31028865|PMID:31541171|PMID:33168709|PMID:33524517|PMID:33724713|PMID:34523024|PMID:9536098 11808238 TMC1 transmembrane channel like 1 gene DOID:0110909 inflammatory bowel disease 25 ISO RGD:1318596 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 25 PMID:25741868|PMID:26011067|PMID:28492532 11808238 TMC1 transmembrane channel like 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1318596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment 11808238 TMC1 transmembrane channel like 1 gene DOID:630 genetic disease ISO RGD:1318596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:26467025|PMID:28492532 11808238 TMC1 transmembrane channel like 1 gene DOID:9004538 Hearing Loss ISO RGD:1318596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:16134132|PMID:16287143|PMID:23767834|PMID:25741868|PMID:28492532|PMID:28501645|PMID:30311386|PMID:33524517 11808238 TMC1 transmembrane channel like 1 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1318596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:17576681|PMID:21252500|PMID:23208854|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 11808238 TMC1 transmembrane channel like 1 gene DOID:9008681 Deafness ISO RGD:1318596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 11808266 RPH3AL rabphilin 3A like (without C2 domains) gene DOID:630 genetic disease ISO RGD:1347963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808266 RPH3AL rabphilin 3A like (without C2 domains) gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:0050127 sinusitis ISO RGD:736369 D RGD:9068941 20200611 RGD associated with Cystic Fibrosis;mRNA:increased expression:respiratory system mucosa PMID:17599561|REF_RGD_ID:4143506 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:736369 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 | ClinVar Annotator: match by term: Pulmonary fibrosis, idiopathic, susceptibility to PMID:13680361|PMID:24033266|PMID:25741868 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:736369 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:25741868 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:11339 pneumocystosis ISO RGD:1552674 D RGD:9068941 20200611 RGD protein:increased expression:lung PMID:11385364|REF_RGD_ID:4143431 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:736369 D RGD:9068941 20200611 RGD protein:decreased expression:lung PMID:17662121|REF_RGD_ID:4143379 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:736369 D RGD:9068941 20200611 RGD protein:increased expression:serum PMID:10588595|REF_RGD_ID:4143436 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:11396 pulmonary edema susceptibility ISO RGD:736369 D RGD:9068941 20200611 RGD DNA:SNPs:cds:1101C>T, 3192T>C, 3234T>C (human) PMID:16162765|REF_RGD_ID:4144872 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:736369 D RGD:9068941 20200611 RGD DNA:snps, haplotypes:multiple (human) PMID:17264398|REF_RGD_ID:4143384 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:11650 bronchopulmonary dysplasia susceptibility ISO RGD:736369 D RGD:9068941 20200611 RGD DNA:polymorphisms, haplotype: (human) PMID:11105614|REF_RGD_ID:4144876 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:1552674 D RGD:9068941 20200611 RGD protein:increased expression:lung PMID:7654386|REF_RGD_ID:4143454 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:736369 D RGD:9068941 20200611 RGD protein:altered polymerization:lung PMID:8652189|REF_RGD_ID:4143450 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:12120 pulmonary alveolar proteinosis severity ISO RGD:736369 D RGD:9068941 20200611 RGD protein:increased expression:blood PMID:12612307|REF_RGD_ID:4143411 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:3665 D RGD:9068941 20200611 RGD protein:increased expression:lung PMID:11504697|REF_RGD_ID:4143428 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:12716 newborn respiratory distress syndrome susceptibility ISO RGD:736369 D RGD:9068941 20200611 RGD DNA:missense mutations, haplotype:cds:p.L50V, p.R219W (human) PMID:11063734|REF_RGD_ID:4143433 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:736369 D RGD:9068941 20200611 RGD protein:decreased expression:lung PMID:10194154|REF_RGD_ID:4143439 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:1273 respiratory syncytial virus infectious disease susceptibility ISO RGD:736369 D RGD:9068941 20200611 RGD DNA:polymorphisms, haplotype: (human) PMID:19287351|REF_RGD_ID:4143495 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:13406 pulmonary sarcoidosis ISO RGD:736369 D RGD:9068941 20200611 RGD protein:decreased expression:lung PMID:10543276|REF_RGD_ID:4143437 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:1485 cystic fibrosis ISO RGD:736369 D RGD:9068941 20200611 RGD protein:decreased expression:lung PMID:15271694|REF_RGD_ID:4143403 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:2841 asthma ISO RGD:1552674 D RGD:9068941 20200611 RGD PMID:18926058|REF_RGD_ID:4143289 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:2841 asthma ISO RGD:3665 D RGD:9068941 20200611 RGD mRNA, protein:increased expression:lung PMID:18802356|REF_RGD_ID:4143516 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:2841 asthma ISO RGD:3665 D RGD:9068941 20200611 RGD protein:decreased expression:lung, Clara cell, pneumocyte PMID:15816355|REF_RGD_ID:4143398 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:2841 asthma ISO RGD:736369 D RGD:9068941 20200611 RGD protein:decreased expression:lung PMID:16629790|REF_RGD_ID:4143462 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:736369 D RGD:9068941 20200611 RGD DNA:SNP:intron:1416C>T (human) PMID:12476938|REF_RGD_ID:4144875 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:736369 D RGD:9068941 20200611 RGD DNA:SNPs:exons:307G>A, 776C>T (human) PMID:16292672|REF_RGD_ID:4144874 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:3082 interstitial lung disease ISO RGD:736369 D RGD:9068941 20200611 RGD protein:decreased expression:lung PMID:11445799|REF_RGD_ID:4143430 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:3082 interstitial lung disease ISO RGD:736369 D RGD:9068941 20200611 RGD protein:increased expression:serum PMID:9216212|REF_RGD_ID:4143449 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736369 D RGD:9068941 20200611 RGD DNA:SNP:cds:p.L50V (human) PMID:19797132|REF_RGD_ID:4143281 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736369 D RGD:9068941 20211126 RGD protein:increased expression:lung PMID:19367700|REF_RGD_ID:4143288 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:736369 D RGD:9068941 20200611 RGD DNA:polymorphism:cds:c.186G>A (human) PMID:11589345|REF_RGD_ID:4143423 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:3770 pulmonary fibrosis ISO RGD:736369 D RGD:9068941 20200611 RGD protein:decreased expression:lung PMID:10543276|REF_RGD_ID:4143437 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:3770 pulmonary fibrosis disease_progression ISO RGD:736369 D RGD:9068941 20200611 RGD mRNA:increased expression:lung PMID:19347046|REF_RGD_ID:4144870 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:3770 pulmonary fibrosis susceptibility ISO RGD:736369 D RGD:9068941 20200611 RGD DNA:missense mutations, haplotype:cds:p.L50V, p.R219W (human) PMID:13680361|REF_RGD_ID:4143409 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:3827 congenital diaphragmatic hernia treatment ISO RGD:3665 D RGD:9068941 20220408 RGD PMID:11051153|REF_RGD_ID:151667435 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:552 pneumonia ISO RGD:1552674 D RGD:9068941 20200611 RGD PMID:15967375|REF_RGD_ID:4143394 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:552 pneumonia ISO RGD:736369 D RGD:9068941 20200611 RGD protein:decreased expression:lung PMID:8542113|REF_RGD_ID:4143452 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:630 genetic disease ISO RGD:736369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:841 extrinsic allergic alveolitis ISO RGD:736369 D RGD:9068941 20200611 RGD protein:decreased expression:lung PMID:10543276|REF_RGD_ID:4143437 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:850 lung disease ISO RGD:3665 D RGD:9068941 20200611 RGD Lung Injury PMID:17616020|REF_RGD_ID:4143505 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:850 lung disease ISO RGD:3665 D RGD:9068941 20200611 RGD Meconium Aspiration Syndrome;protein:decreased expression:lung PMID:9374572|REF_RGD_ID:4143446 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:850 lung disease ISO RGD:736369 D RGD:9068941 20200611 RGD associated with Cystic Fibrosis PMID:16429424|REF_RGD_ID:4144871 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:850 lung disease ISO RGD:736369 D RGD:9068941 20200611 RGD associated with Cystic Fibrosis;protein:increased expression:lung PMID:9230741|REF_RGD_ID:4143448 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:874 bacterial pneumonia ISO RGD:3665 D RGD:9068941 20200611 RGD protein:increased expression:lung PMID:12169586|REF_RGD_ID:4143464 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:9000613 Hyaline Membrane Disease ISO RGD:736369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Respiratory distress associated with prematurity PMID:24033266|PMID:25741868 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1552674 D RGD:9068941 20200611 RGD protein:decreased expression:lung PMID:14748931|REF_RGD_ID:4143407 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:9002918 Interstitial Lung Disease 1 ISO RGD:736369 D RGD:7240710 20211201 OMIM 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:9002918 Interstitial Lung Disease 1 ISO RGD:736369 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 1 PMID:24033266|PMID:25741868|PMID:26792177|PMID:30854216|PMID:31601679|PMID:32855221 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:9004610 Acute Lung Injury ISO RGD:736369 D RGD:9068941 20200611 RGD mRNA, protein:increased expression:pneumocyte PMID:8569184|REF_RGD_ID:4143451 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:9005724 Fungal Lung Diseases susceptibility ISO RGD:1552674 D RGD:9068941 20200611 RGD PMID:20413160|REF_RGD_ID:4143489 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:736369 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB PMID:25741868 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:9007073 Cough susceptibility ISO RGD:736369 D RGD:9068941 20200611 RGD DNA:SNPs, haplotypes:cds:multiple (human) PMID:17407567|REF_RGD_ID:4144873 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:9007480 Hyperoxia ISO RGD:3665 D RGD:9068941 20200611 RGD mRNA, protein:increased expression:lung PMID:11472975|REF_RGD_ID:4143429 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:9007480 Hyperoxia ISO RGD:3665 D RGD:9068941 20200611 RGD mRNA:increased expression:bronchus, Clara cell PMID:16620381|REF_RGD_ID:4143387 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:9008386 Hydrops Fetalis ISO RGD:736369 D RGD:9068941 20200611 RGD protein:decreased expression:lung PMID:7590701|REF_RGD_ID:4143453 11808306 LOC103783265 pulmonary surfactant-associated protein A1 gene DOID:9970 obesity ISO RGD:3665 D RGD:9068941 20200611 RGD protein:increased expression:lung PMID:15136884|REF_RGD_ID:4143472 11808365 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1602218 D RGD:9068941 20200609 RGD PMID:30205384|REF_RGD_ID:18337270 11808365 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1602218 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11808365 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1602218 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11808365 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1602218 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11808365 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:0080600 COVID-19 ISO RGD:1602218 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11808365 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:10283 prostate cancer ISO RGD:1602218 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:prostate gland PMID:25003983|REF_RGD_ID:18337280 11808365 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1602218 D RGD:9068941 20200609 RGD PMID:31762801|REF_RGD_ID:18337271 11808365 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:10844 Japanese encephalitis ISO RGD:1614375 D RGD:9068941 20200609 RGD PMID:17010311|REF_RGD_ID:18337278 11808365 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:11260 rabies ISO RGD:1614375 D RGD:9068941 20200609 RGD PMID:17010311|REF_RGD_ID:18337278 11808365 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:1574 alcohol use disorder ISO RGD:1614375 D RGD:9068941 20200609 RGD mRNA:increased expression:prefrontal cortex PMID:28714806|REF_RGD_ID:18337277 11808365 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1602218 D RGD:9068941 20200609 RGD PMID:26175272|REF_RGD_ID:18337279 11808365 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:1602218 D RGD:9068941 20200609 RGD PMID:25003983|REF_RGD_ID:18337280 11808365 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1602218 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid gland PMID:23569218|REF_RGD_ID:18337285 11808365 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:4001 ovarian carcinoma treatment ISO RGD:1602218 D RGD:9068941 20200609 RGD PMID:26910918|REF_RGD_ID:18337281 11808365 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1602218 D RGD:9068941 20200609 RGD PMID:23651211|REF_RGD_ID:18337283 11808365 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1602218 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11808365 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1602218 D RGD:9068941 20200609 RGD associated with colon cancer PMID:22020760|REF_RGD_ID:15097511 11808377 HACD2 3-hydroxyacyl-CoA dehydratase 2 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1314901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 11808377 HACD2 3-hydroxyacyl-CoA dehydratase 2 gene DOID:630 genetic disease ISO RGD:1314901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808377 HACD2 3-hydroxyacyl-CoA dehydratase 2 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1314901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:21055718|PMID:28492532|PMID:28602422 11808377 HACD2 3-hydroxyacyl-CoA dehydratase 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1314901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 11808377 HACD2 3-hydroxyacyl-CoA dehydratase 2 gene DOID:9270 alkaptonuria ISO RGD:1314901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11808398 COL27A1 collagen type XXVII alpha 1 chain gene DOID:630 genetic disease ISO RGD:1350673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11808398 COL27A1 collagen type XXVII alpha 1 chain gene DOID:9007513 Steel Syndrome ISO RGD:1350673 D RGD:7240710 20180130 OMIM 11808398 COL27A1 collagen type XXVII alpha 1 chain gene DOID:9007513 Steel Syndrome ISO RGD:1350673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Steel syndrome PMID:16199547|PMID:24986830|PMID:25741868|PMID:28276056|PMID:28322503|PMID:28492532|PMID:28895531|PMID:31903681|PMID:31913554 11808466 MRPS6 mitochondrial ribosomal protein S6 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1312391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11808466 MRPS6 mitochondrial ribosomal protein S6 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1312391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 11808466 MRPS6 mitochondrial ribosomal protein S6 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1312391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11808466 MRPS6 mitochondrial ribosomal protein S6 gene DOID:1588 thrombocytopenia ISO RGD:1312391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 11808466 MRPS6 mitochondrial ribosomal protein S6 gene DOID:3393 coronary artery disease ISO RGD:1312391 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:21378990|PMID:34961328 11808466 MRPS6 mitochondrial ribosomal protein S6 gene DOID:630 genetic disease ISO RGD:1312391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808466 MRPS6 mitochondrial ribosomal protein S6 gene DOID:9005698 ZTTK Syndrome ISO RGD:1312391 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 11808476 SAA2 serum amyloid A2 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1351382 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 11808476 SAA2 serum amyloid A2 gene DOID:1059 intellectual disability ISO RGD:1351382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11808483 ANKRD35 ankyrin repeat domain 35 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1352290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 11808483 ANKRD35 ankyrin repeat domain 35 gene DOID:1540 parathyroid carcinoma ISO RGD:1352290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11808483 ANKRD35 ankyrin repeat domain 35 gene DOID:5419 schizophrenia ISO RGD:1352290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11808483 ANKRD35 ankyrin repeat domain 35 gene DOID:630 genetic disease ISO RGD:1352290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808483 ANKRD35 ankyrin repeat domain 35 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11808501 E2F5 E2F transcription factor 5 gene DOID:10283 prostate cancer ISO RGD:731057 D RGD:9068941 20221103 RGD mRNA,protein:increased expression:prostate: PMID:33390186|REF_RGD_ID:155641232 11808501 E2F5 E2F transcription factor 5 gene DOID:10286 prostate carcinoma ameliorates ISO RGD:731057 D RGD:9068941 20221103 RGD PMID:33390186|REF_RGD_ID:155641232 11808501 E2F5 E2F transcription factor 5 gene DOID:10908 hydrocephalus ISO RGD:731058 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 11808501 E2F5 E2F transcription factor 5 gene DOID:3908 lung non-small cell carcinoma ISO RGD:731057 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 11808501 E2F5 E2F transcription factor 5 gene DOID:630 genetic disease ISO RGD:731057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808501 E2F5 E2F transcription factor 5 gene DOID:9000918 Disease Progression ISO RGD:731057 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 11808515 SEC24B SEC24 homolog B, COPII coat complex component gene DOID:630 genetic disease ISO RGD:1319664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808556 REEP6 receptor accessory protein 6 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1319884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 11808556 REEP6 receptor accessory protein 6 gene DOID:0080350 retinitis pigmentosa 77 ISO RGD:1319884 D RGD:7240710 20190315 OMIM 11808556 REEP6 receptor accessory protein 6 gene DOID:0080350 retinitis pigmentosa 77 ISO RGD:1319884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 77 PMID:25741868|PMID:27889058|PMID:28369466|PMID:28492532|PMID:29120066 11808556 REEP6 receptor accessory protein 6 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1319884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 11808556 REEP6 receptor accessory protein 6 gene DOID:10584 retinitis pigmentosa ISO RGD:1319884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa PMID:29120066 11808556 REEP6 receptor accessory protein 6 gene DOID:5339 cyclic hematopoiesis ISO RGD:1319884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11808556 REEP6 receptor accessory protein 6 gene DOID:630 genetic disease ISO RGD:1319884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11808556 REEP6 receptor accessory protein 6 gene DOID:8501 fundus dystrophy ISO RGD:1319884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 11808556 REEP6 receptor accessory protein 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11808565 GADL1 glutamate decarboxylase like 1 gene DOID:13938 amenorrhea ISO RGD:1351528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11808565 GADL1 glutamate decarboxylase like 1 gene DOID:630 genetic disease ISO RGD:1351528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808565 GADL1 glutamate decarboxylase like 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1351528 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11808587 SBK1 SH3 domain binding kinase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1344532 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 11808587 SBK1 SH3 domain binding kinase 1 gene DOID:630 genetic disease ISO RGD:1344532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808604 PABPC1 poly(A) binding protein cytoplasmic 1 gene DOID:0080600 COVID-19 ISO RGD:1349848 D RGD:9068941 20200709 RGD mRNA:decreased expression:antibody secreting B cells (human) PMID:32377375|REF_RGD_ID:32716422 11808604 PABPC1 poly(A) binding protein cytoplasmic 1 gene DOID:0111590 Cohen syndrome ISO RGD:1349848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 11808604 PABPC1 poly(A) binding protein cytoplasmic 1 gene DOID:11054 urinary bladder cancer ISO RGD:1349848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25783786 11808604 PABPC1 poly(A) binding protein cytoplasmic 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1349848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25783786 11808604 PABPC1 poly(A) binding protein cytoplasmic 1 gene DOID:3307 teratoma ISO RGD:1349848 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 11808604 PABPC1 poly(A) binding protein cytoplasmic 1 gene DOID:630 genetic disease ISO RGD:1349848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808604 PABPC1 poly(A) binding protein cytoplasmic 1 gene DOID:9007098 Pulmonary Atresia ISO RGD:1349848 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia 11808604 PABPC1 poly(A) binding protein cytoplasmic 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1349848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 11808623 AIG1 androgen induced 1 gene DOID:630 genetic disease ISO RGD:1346084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808652 AMDHD2 amidohydrolase domain containing 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1603049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11808652 AMDHD2 amidohydrolase domain containing 2 gene DOID:1826 epilepsy ISO RGD:1603049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11808652 AMDHD2 amidohydrolase domain containing 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603049 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11808652 AMDHD2 amidohydrolase domain containing 2 gene DOID:630 genetic disease ISO RGD:1603049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808665 NTN3 netrin 3 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:732796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 11808665 NTN3 netrin 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:732796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11808665 NTN3 netrin 3 gene DOID:1826 epilepsy ISO RGD:732796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11808665 NTN3 netrin 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:732796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11808665 NTN3 netrin 3 gene DOID:630 genetic disease ISO RGD:732796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808679 TTC3 tetratricopeptide repeat domain 3 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1318550 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11808679 TTC3 tetratricopeptide repeat domain 3 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1318550 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11808679 TTC3 tetratricopeptide repeat domain 3 gene DOID:1826 epilepsy ISO RGD:1318550 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11808679 TTC3 tetratricopeptide repeat domain 3 gene DOID:630 genetic disease ISO RGD:1318550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808679 TTC3 tetratricopeptide repeat domain 3 gene DOID:9003713 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis ISO RGD:1318550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corticobasal syndrome PMID:25741868 11808746 FILIP1L filamin A interacting protein 1 like gene DOID:630 genetic disease ISO RGD:1604834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808761 CALML6 calmodulin like 6 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1346825 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11808761 CALML6 calmodulin like 6 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1346825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11808761 CALML6 calmodulin like 6 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1346825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11808761 CALML6 calmodulin like 6 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1346825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11808761 CALML6 calmodulin like 6 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1346825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11808761 CALML6 calmodulin like 6 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1346825 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11808761 CALML6 calmodulin like 6 gene DOID:0111934 immunodeficiency 38 ISO RGD:1346825 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11808761 CALML6 calmodulin like 6 gene DOID:0111935 immunodeficiency 16 ISO RGD:1346825 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11808761 CALML6 calmodulin like 6 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1346825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11808761 CALML6 calmodulin like 6 gene DOID:630 genetic disease ISO RGD:1346825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808761 CALML6 calmodulin like 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11808761 CALML6 calmodulin like 6 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1346825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11808761 CALML6 calmodulin like 6 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1346825 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11808775 SLC13A1 solute carrier family 13 member 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11808775 SLC13A1 solute carrier family 13 member 1 gene DOID:630 genetic disease ISO RGD:1346909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808800 HTR7 5-hydroxytryptamine receptor 7 gene DOID:0080000 muscular disease ISO RGD:1346949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17600820 11808800 HTR7 5-hydroxytryptamine receptor 7 gene DOID:10914 amnestic disorder ISO RGD:71034 D RGD:9068941 20200609 RGD PMID:18570192|REF_RGD_ID:6482184 11808800 HTR7 5-hydroxytryptamine receptor 7 gene DOID:10933 obsessive-compulsive disorder ISO RGD:732164 D RGD:9068941 20200609 RGD PMID:17267119|REF_RGD_ID:6482188 11808800 HTR7 5-hydroxytryptamine receptor 7 gene DOID:1561 cognitive disorder ISO RGD:71034 D RGD:9068941 20200609 RGD PMID:21558435|REF_RGD_ID:6480666 11808800 HTR7 5-hydroxytryptamine receptor 7 gene DOID:1574 alcohol use disorder ISO RGD:1346949 D RGD:9068941 20211008 RGD DNA:SNP:intron: (rs7916403) (human) PMID:21184583|REF_RGD_ID:150429835 11808800 HTR7 5-hydroxytryptamine receptor 7 gene DOID:1596 depressive disorder ISO RGD:1346949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21859099 11808800 HTR7 5-hydroxytryptamine receptor 7 gene DOID:1596 depressive disorder ISO RGD:732164 D RGD:9068941 20200609 RGD PMID:16828124|REF_RGD_ID:6482189 11808800 HTR7 5-hydroxytryptamine receptor 7 gene DOID:1825 childhood absence epilepsy ISO RGD:71034 D RGD:9068941 20200609 RGD PMID:15050708|REF_RGD_ID:6480686 11808800 HTR7 5-hydroxytryptamine receptor 7 gene DOID:1826 epilepsy ISO RGD:732164 D RGD:9068941 20200609 RGD PMID:17485199|REF_RGD_ID:6482190 11808800 HTR7 5-hydroxytryptamine receptor 7 gene DOID:2030 anxiety disorder ISO RGD:1346949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21859099 11808800 HTR7 5-hydroxytryptamine receptor 7 gene DOID:2030 anxiety disorder ISO RGD:71034 D RGD:9068941 20200609 RGD PMID:16828124|REF_RGD_ID:6482189 11808800 HTR7 5-hydroxytryptamine receptor 7 gene DOID:2030 anxiety disorder ISO RGD:732164 D RGD:9068941 20200609 RGD PMID:16828124|REF_RGD_ID:6482189 11808800 HTR7 5-hydroxytryptamine receptor 7 gene DOID:535 sleep disorder ISO RGD:1346949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21859099 11808800 HTR7 5-hydroxytryptamine receptor 7 gene DOID:5419 schizophrenia ISO RGD:1346949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12165372 11808800 HTR7 5-hydroxytryptamine receptor 7 gene DOID:630 genetic disease ISO RGD:1346949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808800 HTR7 5-hydroxytryptamine receptor 7 gene DOID:6364 migraine ISO RGD:71034 D RGD:9068941 20200609 RGD PMID:20236348|REF_RGD_ID:6482182 11808800 HTR7 5-hydroxytryptamine receptor 7 gene DOID:8927 learning disability ISO RGD:1346949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21859099 11808800 HTR7 5-hydroxytryptamine receptor 7 gene DOID:9000641 Pain ISO RGD:1346949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17600820 11808800 HTR7 5-hydroxytryptamine receptor 7 gene DOID:9000998 Brain Injuries ISO RGD:71034 D RGD:9068941 20200609 RGD PMID:22465320|REF_RGD_ID:6482178 11808800 HTR7 5-hydroxytryptamine receptor 7 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:71034 D RGD:9068941 20200609 RGD protein:decreased expression: : PMID:21693130|REF_RGD_ID:6480665 11808800 HTR7 5-hydroxytryptamine receptor 7 gene DOID:9002211 Hyperalgesia ISO RGD:71034 D RGD:9068941 20200609 RGD PMID:21693130|PMID:21843960|REF_RGD_ID:6480665|REF_RGD_ID:6482179 11808800 HTR7 5-hydroxytryptamine receptor 7 gene DOID:9002362 Hyperkinesis ISO RGD:732164 D RGD:9068941 20200609 RGD PMID:18332680|REF_RGD_ID:6482186 11808800 HTR7 5-hydroxytryptamine receptor 7 gene DOID:9008023 Memory Disorders ISO RGD:1346949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21859099 11808800 HTR7 5-hydroxytryptamine receptor 7 gene DOID:9778 irritable bowel syndrome ISO RGD:71034 D RGD:9068941 20200609 RGD protein:increased expression:brain, intestine PMID:18167178|REF_RGD_ID:6480673 11808813 LILRA4 leukocyte immunoglobulin like receptor A4 gene DOID:0080600 COVID-19 ISO RGD:1606816 D RGD:9068941 20200709 RGD mRNA:decreased expression:dendritic cells (human) PMID:32377375|REF_RGD_ID:32716422 11808813 LILRA4 leukocyte immunoglobulin like receptor A4 gene DOID:630 genetic disease ISO RGD:1606816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808813 LILRA4 leukocyte immunoglobulin like receptor A4 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1606816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18006695 11808832 SLC9A8 solute carrier family 9 member A8 gene DOID:1307 dementia ISO RGD:1317829 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19234771 11808832 SLC9A8 solute carrier family 9 member A8 gene DOID:630 genetic disease ISO RGD:1317829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808854 VAV1 vav guanine nucleotide exchange factor 1 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:737234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 11808854 VAV1 vav guanine nucleotide exchange factor 1 gene DOID:0050902 medulloblastoma ISO RGD:737234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 11808854 VAV1 vav guanine nucleotide exchange factor 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:737234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11808854 VAV1 vav guanine nucleotide exchange factor 1 gene DOID:289 endometriosis ISO RGD:3951 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:17845203|REF_RGD_ID:2303708 11808854 VAV1 vav guanine nucleotide exchange factor 1 gene DOID:3910 lung adenocarcinoma ISO RGD:737234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 11808854 VAV1 vav guanine nucleotide exchange factor 1 gene DOID:614 lymphopenia ISO RGD:3951 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:thymus PMID:10433093|REF_RGD_ID:2306005 11808854 VAV1 vav guanine nucleotide exchange factor 1 gene DOID:630 genetic disease ISO RGD:737234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11808854 VAV1 vav guanine nucleotide exchange factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:3951 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:2064726|REF_RGD_ID:2306008 11808854 VAV1 vav guanine nucleotide exchange factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11808854 VAV1 vav guanine nucleotide exchange factor 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:3951 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:thymus PMID:10433093|REF_RGD_ID:2306005 11808885 PMEPA1 prostate transmembrane protein, androgen induced 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1317924 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:32215045 11808885 PMEPA1 prostate transmembrane protein, androgen induced 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1317924 D RGD:9068941 20200609 RGD PMID:12907594|REF_RGD_ID:2315107 11808885 PMEPA1 prostate transmembrane protein, androgen induced 1 gene DOID:1612 breast cancer ISO RGD:1317924 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:14639658|REF_RGD_ID:2315106 11808885 PMEPA1 prostate transmembrane protein, androgen induced 1 gene DOID:1984 rectal benign neoplasm ISO RGD:1317924 D RGD:9068941 20200609 RGD mRNA:increased expression:rectum PMID:11568975|REF_RGD_ID:2315108 11808885 PMEPA1 prostate transmembrane protein, androgen induced 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:1317924 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach PMID:11568975|REF_RGD_ID:2315108 11808885 PMEPA1 prostate transmembrane protein, androgen induced 1 gene DOID:4450 renal cell carcinoma ISO RGD:1317924 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:11568975|REF_RGD_ID:2315108 11808885 PMEPA1 prostate transmembrane protein, androgen induced 1 gene DOID:630 genetic disease ISO RGD:1317924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808885 PMEPA1 prostate transmembrane protein, androgen induced 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317924 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11808893 C1H1orf74 chromosome 1 C1orf74 homolog gene DOID:0060239 Van der Woude syndrome ISO RGD:1606707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Van der Woude syndrome 1 PMID:14618417 11808893 C1H1orf74 chromosome 1 C1orf74 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1606707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11808893 C1H1orf74 chromosome 1 C1orf74 homolog gene DOID:630 genetic disease ISO RGD:1606707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808893 C1H1orf74 chromosome 1 C1orf74 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11808905 GZMK granzyme K gene DOID:630 genetic disease ISO RGD:68588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808905 GZMK granzyme K gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11808914 MSH2 mutS homolog 2 gene DOID:0050465 Muir-Torre syndrome ISO RGD:732745 D RGD:7240710 20180130 OMIM 11808914 MSH2 mutS homolog 2 gene DOID:0050465 Muir-Torre syndrome ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas | ClinVar Annotator: match by term: Muir-Torré syndrome PMID:10080150|PMID:10323887|PMID:10375096|PMID:10397236|PMID:11151427|PMID:11291077|PMID:11601928|PMID:12132870|PMID:12362047|PMID:12624141|PMID:14994245|PMID:15235030|PMID:15655560|PMID:15849733|PMID:15872200|PMID:15942939|PMID:16216036|PMID:16451135|PMID:16636019|PMID:16736289|PMID:16830052|PMID:16996571|PMID:17250661|PMID:17312306|PMID:17473388|PMID:17569143|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18772310|PMID:19419416|PMID:19731080|PMID:20007843|PMID:21387278|PMID:21598002|PMID:21642682|PMID:21868491|PMID:21926548|PMID:22034109|PMID:22322191|PMID:22480969|PMID:23170986|PMID:23229822|PMID:23990280|PMID:24344984|PMID:24362816|PMID:24415873|PMID:24474082|PMID:24506336|PMID:24549055|PMID:24763289|PMID:24851142|PMID:25093288|PMID:25110875|PMID:25117503|PMID:25194673|PMID:25430799|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26289772|PMID:26437257|PMID:26467025|PMID:26878173|PMID:26951660|PMID:27329137|PMID:27601186|PMID:27606285|PMID:27863258|PMID:28195393|PMID:28202063|PMID:28449805|PMID:28492532|PMID:28640387|PMID:28828701|PMID:28874130|PMID:28944238|PMID:29025352|PMID:29489754|PMID:29575718|PMID:29887214|PMID:29889250|PMID:30274973|PMID:30306255|PMID:30521064|PMID:30998989|PMID:31054147|PMID:31162827|PMID:31297992|PMID:31391288|PMID:31491536|PMID:31615790|PMID:31660093|PMID:31742824|PMID:32338768|PMID:32522261|PMID:32658311|PMID:32719484|PMID:33357406|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33630411|PMID:33827469|PMID:34426522|PMID:7585065|PMID:7713503|PMID:8566964|PMID:8592341|PMID:9002677|PMID:9217825|PMID:9288790|PMID:9718327 11808914 MSH2 mutS homolog 2 gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:732746 D RGD:9068941 20210430 RGD PMID:11604476|REF_RGD_ID:126790556 11808914 MSH2 mutS homolog 2 gene DOID:0060180 colitis ISO RGD:620786 D RGD:9068941 20200609 RGD PMID:23883737|REF_RGD_ID:10412318 11808914 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:7240710 20180130 OMIM 11808914 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10978353|PMID:10995807|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11524701|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12694232|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15872200|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17312306|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17661183|PMID:17720936|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18990764|PMID:19072991|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19659756|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969 11808914 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:22581703|PMID:22585170|PMID:22703879|PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:2695166|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30374176|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31494577|PMID:31512090|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31882575|PMID:32019277|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32941469|PMID:32957588|PMID:32986223|PMID:32994724|PMID:33357406|PMID:33471991|PMID:33630411|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34347074|PMID:34371384|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795 11808914 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676 11808914 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23523604|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29025352|PMID:29050249|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31857677|PMID:31882575|PMID:32019277|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34213665 11808914 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676 11808914 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:22703879|PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23523604|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31857677|PMID:31882575|PMID:32019277|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33848333|PMID:33850299 11808914 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:33939675|PMID:34117267|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676 11808914 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:10612836|PMID:10693791|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10978353|PMID:10995807|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11524701|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12694232|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15872200|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17312306|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18990764|PMID:19072991|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19659756|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21837758|PMID:21868491|PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969 11808914 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:22581703|PMID:22585170|PMID:22703879|PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659587|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31692600|PMID:31742824|PMID:31843900|PMID:31857677|PMID:31882575|PMID:31948886|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079 11808914 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32809219|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33630411|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34117267|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:36073783|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676 11808914 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:10612836|PMID:10693791|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10978353|PMID:10995807|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11524701|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12414824|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12694232|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15872200|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17312306|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18990764|PMID:19072991|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19659756|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21837758|PMID:21868491|PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969 11808914 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:22581703|PMID:22703879|PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659587|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31444830|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31692600|PMID:31742824|PMID:31843900|PMID:31857677 11808914 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:31882575|PMID:31948886|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32741062|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33630411|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9718327|PMID:9748699|PMID:9774676 11808914 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:10612836|PMID:10693791|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10978353|PMID:10995807|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11524701|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11839723|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12414824|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12694232|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15872200|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17312306|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18990764|PMID:19072991|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19659756|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22102614|PMID:22120844 11808914 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31692600|PMID:31742824|PMID:31843900|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32741062|PMID:32832836|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9718327|PMID:9748699|PMID:9774676 11808914 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:22179786|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31444830|PMID:31491536|PMID:31494577|PMID:31512090 11808914 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31692600|PMID:31742824|PMID:31843900|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32741062|PMID:32832836|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36988593|PMID:6096739|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9718327|PMID:9748699|PMID:9774676 11808914 MSH2 mutS homolog 2 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 11808914 MSH2 mutS homolog 2 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:732745 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Constitutional mismatch repair deficiency syndrome | ClinVar Annotator: match by term: Turcot syndrome PMID:10080150|PMID:10196371|PMID:10323887|PMID:10375096|PMID:10970186|PMID:10978353|PMID:11151427|PMID:11291077|PMID:11601928|PMID:11920650|PMID:12132870|PMID:12362047|PMID:12624141|PMID:12658575|PMID:14580774|PMID:15235030|PMID:15365996|PMID:15655560|PMID:15713769|PMID:15849733|PMID:15855432|PMID:15872200|PMID:16216036|PMID:16395668|PMID:16451135|PMID:16614121|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16830052|PMID:16929514|PMID:16996571|PMID:17011982|PMID:17312306|PMID:17374836|PMID:17473388|PMID:17569143|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18383312|PMID:18561205|PMID:18772310|PMID:19419416|PMID:19459153|PMID:19669161|PMID:19698169|PMID:19731080|PMID:20007843|PMID:21056691|PMID:21387278|PMID:21598002|PMID:21642682|PMID:21868491|PMID:21926548|PMID:22034109|PMID:22290698|PMID:22883484|PMID:22977643|PMID:23990280|PMID:24033266|PMID:24344984|PMID:24362816|PMID:24415873|PMID:24474082|PMID:24506336|PMID:24549055|PMID:24763289|PMID:24851142|PMID:25093288|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25430799|PMID:25525159|PMID:25569433|PMID:25637381|PMID:25648859|PMID:25741868|PMID:26437257|PMID:26467025|PMID:26681312|PMID:26845104|PMID:26878173|PMID:26951660|PMID:27601186|PMID:27606285|PMID:27863258|PMID:28195393|PMID:28202063|PMID:28449805|PMID:28492532|PMID:28640387|PMID:28767289|PMID:28828701|PMID:28874130|PMID:28944238|PMID:29025352|PMID:29302048|PMID:29489754|PMID:29575718|PMID:29731845|PMID:29887214|PMID:29889250|PMID:30262796|PMID:30274973|PMID:30306255|PMID:30521064|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31162827|PMID:31237724|PMID:31297992|PMID:31391288|PMID:31491536|PMID:31615790|PMID:31660093|PMID:31742824|PMID:31857677|PMID:32338768|PMID:32522261|PMID:32658311|PMID:32719484|PMID:33357406|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33630411|PMID:33848333|PMID:34426522|PMID:36073783|PMID:36988593|PMID:8261515|PMID:8566964|PMID:8592341|PMID:9288790|PMID:9748699 11808914 MSH2 mutS homolog 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:732745 D RGD:9068941 20200609 RGD PMID:16217293|REF_RGD_ID:2293513 11808914 MSH2 mutS homolog 2 gene DOID:10534 stomach cancer ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10196371|PMID:10793088|PMID:10874307|PMID:11859205|PMID:11920650|PMID:12362047|PMID:12624141|PMID:12658575|PMID:14970868|PMID:15235030|PMID:15713769|PMID:15731775|PMID:15849733|PMID:15855432|PMID:16143124|PMID:16451135|PMID:16639607|PMID:17312306|PMID:17414604|PMID:17453009|PMID:18033691|PMID:18781192|PMID:19459153|PMID:19698169|PMID:20223024|PMID:20587412|PMID:20591884|PMID:21239990|PMID:21590452|PMID:21642682|PMID:21681552|PMID:21837758|PMID:22883484|PMID:23047549|PMID:24240112|PMID:24278394|PMID:24344984|PMID:24362816|PMID:24710284|PMID:25117503|PMID:25430799|PMID:25569433|PMID:25639900|PMID:25648859|PMID:25741868|PMID:26446363|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26824983|PMID:27016151|PMID:27432916|PMID:27449771|PMID:27863258|PMID:28050010|PMID:28127413|PMID:28492532|PMID:28514183|PMID:28724667|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29238914|PMID:29752822|PMID:30044143|PMID:30376427|PMID:31054147|PMID:31207149|PMID:31857677|PMID:32068069|PMID:33015532|PMID:33357406|PMID:33471991|PMID:36073783|PMID:36988593|PMID:8062247|PMID:8261515|PMID:9288790|PMID:9634524|PMID:9718327 11808914 MSH2 mutS homolog 2 gene DOID:11054 urinary bladder cancer ISO RGD:732745 D RGD:9068941 20200609 RGD DNA:mutation PMID:18389386|REF_RGD_ID:2293502 11808914 MSH2 mutS homolog 2 gene DOID:11054 urinary bladder cancer ISO RGD:732745 D RGD:9068941 20210430 RGD DNA:mutations: :multiple PMID:26385421|REF_RGD_ID:126790580 11808914 MSH2 mutS homolog 2 gene DOID:11054 urinary bladder cancer ISO RGD:732745 D RGD:9068941 20210430 RGD associated with Lynch syndrome PMID:22883484|REF_RGD_ID:126790557 11808914 MSH2 mutS homolog 2 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732745 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:18254781|REF_RGD_ID:2293503 11808914 MSH2 mutS homolog 2 gene DOID:1115 sarcoma ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:16395668|PMID:18383312|PMID:19389263|PMID:22290698|PMID:24033266|PMID:25741868|PMID:26094658|PMID:26250988|PMID:26467025|PMID:26580448|PMID:28492532|PMID:29458332|PMID:30093976|PMID:30131383|PMID:30998989|PMID:31391288|PMID:31569399|PMID:33357406|PMID:33471991 11808914 MSH2 mutS homolog 2 gene DOID:11832 visual epilepsy ISO RGD:620786 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, neuron PMID:10625070|REF_RGD_ID:2293528 11808914 MSH2 mutS homolog 2 gene DOID:12192 sigmoid colon cancer ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sigmoid colon cancer PMID:10495924|PMID:12658575|PMID:15849733|PMID:18566915|PMID:20215533|PMID:23741719|PMID:24323032|PMID:24362816|PMID:25117503|PMID:25648859|PMID:25741868|PMID:26177554|PMID:26659639|PMID:27013479|PMID:27601186|PMID:28492532|PMID:31162827 11808914 MSH2 mutS homolog 2 gene DOID:12858 Huntington's disease onset ISO RGD:732746 D RGD:9068941 20200609 RGD PMID:12554681|REF_RGD_ID:10412317 11808914 MSH2 mutS homolog 2 gene DOID:1324 lung cancer susceptibility ISO RGD:732745 D RGD:9068941 20210507 RGD DNA:SNP: :rs2303425 (human) PMID:25252909|REF_RGD_ID:126848798 11808914 MSH2 mutS homolog 2 gene DOID:1520 colon carcinoma ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10404063|PMID:10413423|PMID:10446963|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10612827|PMID:10612836|PMID:10777691|PMID:10793088|PMID:10978353|PMID:10995807|PMID:11151427|PMID:11291077|PMID:11691782|PMID:11772966|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920650|PMID:11975096|PMID:12112654|PMID:12115348|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14574162|PMID:14574163|PMID:14970868|PMID:15075785|PMID:15222003|PMID:15235030|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15516845|PMID:15520224|PMID:15527911|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15926618|PMID:15955785|PMID:15996210|PMID:16034045|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16288214|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16451135|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17192056|PMID:17312306|PMID:17350822|PMID:17414604|PMID:17440950|PMID:17505997|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18270343|PMID:18325052|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18772310|PMID:18822302|PMID:18951462|PMID:18951465|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19669161|PMID:19685281|PMID:19698169|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20682701|PMID:20850175|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21387278|PMID:21419771|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21681552|PMID:21788563|PMID:22039344|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22371642|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23454724|PMID:23526924|PMID:23573243|PMID:23612316|PMID:23741719|PMID:23760103|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24240112|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24396821|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24933000|PMID:24933100|PMID:25025451|PMID:25110875|PMID:25117503|PMID:25133505|PMID:25430799|PMID:25569433|PMID:25637381|PMID:25648859|PMID:25741868|PMID:25980754|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26096739|PMID:26177554|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26580448|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26824983|PMID:26898890|PMID:26900293|PMID:26951660|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27273229|PMID:27328445|PMID:27601186|PMID:27696107|PMID:27720647|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28422960|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28779002|PMID:28828701|PMID:28874130|PMID:28944238|PMID:29164703|PMID:29212164|PMID:29238914|PMID:29345684|PMID:29575718|PMID:29596542|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29887214|PMID:29967336|PMID:30019097|PMID:30217226|PMID:30238922|PMID:30267214|PMID:30376427|PMID:30521064|PMID:30877237|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31265121|PMID:31569399|PMID:31615790|PMID:31857677|PMID:32019277|PMID:32068069|PMID:32075053 11808914 MSH2 mutS homolog 2 gene DOID:1520 colon carcinoma ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:32090079|PMID:32283892|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32660107|PMID:32885271|PMID:32957588|PMID:33015532|PMID:33357406|PMID:33471991|PMID:33746161|PMID:34347074|PMID:36073783|PMID:3616036|PMID:6096739|PMID:7726159|PMID:7874129|PMID:8062247|PMID:8261515|PMID:8574961|PMID:8592341|PMID:8872463|PMID:8895729|PMID:9002677|PMID:9125109|PMID:9288790|PMID:9311737|PMID:9536098|PMID:9621522|PMID:9718327 11808914 MSH2 mutS homolog 2 gene DOID:1520 colon carcinoma ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10404063|PMID:10413423|PMID:10446963|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10777691|PMID:10793088|PMID:10978353|PMID:10995807|PMID:11151427|PMID:11291077|PMID:11691782|PMID:11772966|PMID:11870161|PMID:11910346|PMID:11920650|PMID:11975096|PMID:12112654|PMID:12115348|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14574162|PMID:14574163|PMID:14970868|PMID:15075785|PMID:15222003|PMID:15235030|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15516845|PMID:15520224|PMID:15527911|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15926618|PMID:15955785|PMID:15996210|PMID:16034045|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16288214|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16451135|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17192056|PMID:17312306|PMID:17350822|PMID:17414604|PMID:17440950|PMID:17505997|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18270343|PMID:18325052|PMID:18383312|PMID:18415027|PMID:18460031|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18772310|PMID:18822302|PMID:18951462|PMID:18951465|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19669161|PMID:19685281|PMID:19698169|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20682701|PMID:20850175|PMID:20937110|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21681552|PMID:21788563|PMID:21879275|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22371642|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23454724|PMID:23526924|PMID:23573243|PMID:23612316|PMID:23741719|PMID:23760103|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24090359|PMID:24240112|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24396821|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24933000|PMID:24933100|PMID:25025451|PMID:25110875|PMID:25117503|PMID:25133505|PMID:25430799|PMID:25525159|PMID:25569433|PMID:25637381|PMID:25648859|PMID:25741868|PMID:25795746|PMID:25980754|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26096739|PMID:26177554|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26580448|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26824983|PMID:26898890|PMID:26900293|PMID:26951660|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27273229|PMID:27328445|PMID:27601186|PMID:27696107|PMID:27720647|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28422960|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28779002|PMID:28828701|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29164703|PMID:29212164|PMID:29238914|PMID:29345684|PMID:29575718|PMID:29596542|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29887214|PMID:29967336|PMID:30019097|PMID:30093976|PMID:30217226|PMID:30238922|PMID:30267214|PMID:30376427|PMID:30521064|PMID:30553995|PMID:30702970|PMID:30787465|PMID:30875412|PMID:30877237 11808914 MSH2 mutS homolog 2 gene DOID:1520 colon carcinoma ISO RGD:732745 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:30998989|PMID:31054147|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31265121|PMID:31332305|PMID:31444830|PMID:31569399|PMID:31615790|PMID:31857677|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32283892|PMID:32547938|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32658311|PMID:32660107|PMID:32885271|PMID:32957588|PMID:33015532|PMID:33357406|PMID:33471991|PMID:33484353|PMID:33726816|PMID:33746161|PMID:34178123|PMID:34347074|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36988593|PMID:6096739|PMID:7726159|PMID:7874129|PMID:8062247|PMID:8261515|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8640829|PMID:8872463|PMID:8895729|PMID:9002677|PMID:9125109|PMID:9222765|PMID:9288790|PMID:9311737|PMID:9536098|PMID:9621522|PMID:9718327|PMID:9774676 11808914 MSH2 mutS homolog 2 gene DOID:1612 breast cancer ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11524701|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16199547|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21681552|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22585170|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25117502|PMID:25117503|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26202870|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29625052|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31569399|PMID:32255556|PMID:32338768|PMID:32566746|PMID:32658311|PMID:32986223|PMID:33471991|PMID:8613431|PMID:9718327 11808914 MSH2 mutS homolog 2 gene DOID:1612 breast cancer ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21681552|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22585170|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25117502|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28706299|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29625052|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31569399|PMID:32255556|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32658311|PMID:32980694|PMID:32986223|PMID:33294277|PMID:33357406|PMID:33471991|PMID:34755017|PMID:8613431|PMID:9718327 11808914 MSH2 mutS homolog 2 gene DOID:1612 breast cancer ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15613555|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:18990764|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25117502|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28706299|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29625052|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31569399|PMID:32019277|PMID:32255556|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32658311|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:33558524|PMID:33848333|PMID:34117267|PMID:34755017|PMID:8613431|PMID:9718327 11808914 MSH2 mutS homolog 2 gene DOID:1612 breast cancer ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11524701|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15613555|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16199547|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:18990764|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25117502|PMID:25117503|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26202870|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28706299|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29625052|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31569399|PMID:32019277|PMID:32255556|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32658311|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33468175|PMID:33471991|PMID:33558524|PMID:33848333|PMID:34117267|PMID:34755017|PMID:8613431|PMID:9718327 11808914 MSH2 mutS homolog 2 gene DOID:1612 breast cancer susceptibility ISO RGD:732745 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.G322D PMID:16252083|REF_RGD_ID:2293512 11808914 MSH2 mutS homolog 2 gene DOID:1896 sigmoid neoplasm ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sigmoid colon cancer PMID:10495924|PMID:12658575|PMID:15849733|PMID:18566915|PMID:20215533|PMID:23741719|PMID:24323032|PMID:24362816|PMID:25117503|PMID:25648859|PMID:25741868|PMID:26177554|PMID:26659639|PMID:27013479|PMID:27601186|PMID:28492532|PMID:31162827 11808914 MSH2 mutS homolog 2 gene DOID:218 ascending colon cancer ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of ascending colon PMID:11208710|PMID:11524701|PMID:11601928|PMID:11769729|PMID:11854906|PMID:12414824|PMID:12547705|PMID:12658575|PMID:15713769|PMID:15849733|PMID:16116158|PMID:16237223|PMID:16616355|PMID:16807412|PMID:17229076|PMID:17312306|PMID:18270343|PMID:18566915|PMID:20215533|PMID:20233461|PMID:20587412|PMID:21598002|PMID:23047549|PMID:24033266|PMID:24362816|PMID:25430799|PMID:25741868|PMID:26467025|PMID:27013479|PMID:27601186|PMID:28492532|PMID:30521064|PMID:9311737|PMID:9718327 11808914 MSH2 mutS homolog 2 gene DOID:219 colon cancer ISO RGD:732745 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:25741868|PMID:28492532 11808914 MSH2 mutS homolog 2 gene DOID:219 colon cancer disease_progression ISO RGD:732745 D RGD:9068941 20210430 RGD PMID:28411881|REF_RGD_ID:126790577 11808914 MSH2 mutS homolog 2 gene DOID:219 colon cancer disease_progression ISO RGD:732745 D RGD:9068941 20210430 RGD DNA, mRNA:loss of heterogeneity, increased expression: :colon PMID:29715107|REF_RGD_ID:126790554 11808914 MSH2 mutS homolog 2 gene DOID:219 colon cancer no_association ISO RGD:732745 D RGD:9068941 20210430 RGD DNA:SNP:intron:IVS10+12G>A (human) PMID:29715107|REF_RGD_ID:126790554 11808914 MSH2 mutS homolog 2 gene DOID:2394 ovarian cancer ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:12376507|PMID:14514376|PMID:15046089|PMID:15613555|PMID:16425354|PMID:18383312|PMID:18726168|PMID:19419416|PMID:22006311|PMID:22949387|PMID:23047549|PMID:23760103|PMID:25637381|PMID:25741868|PMID:26333163|PMID:26467025|PMID:26824983|PMID:26845104|PMID:26951660|PMID:27974047|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28580595|PMID:28706299|PMID:28767289|PMID:29050249|PMID:29192238|PMID:29684080|PMID:30122538|PMID:30267214|PMID:30374176|PMID:30630526|PMID:30833958|PMID:30982232|PMID:31054147|PMID:31235699|PMID:31248605|PMID:31307542|PMID:31386297|PMID:32019277|PMID:32255556|PMID:32547938|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:33848333|PMID:34755017 11808914 MSH2 mutS homolog 2 gene DOID:2671 transitional cell carcinoma ISO RGD:732745 D RGD:9068941 20210430 RGD associated with Lynch syndrome PMID:22883484|REF_RGD_ID:126790557 11808914 MSH2 mutS homolog 2 gene DOID:2871 endometrial carcinoma ISO RGD:732745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:12115348|PMID:12362047|PMID:14504054|PMID:15235034|PMID:15655560|PMID:15713769|PMID:15849733|PMID:1586275|PMID:15862756|PMID:15872200|PMID:16451135|PMID:17192056|PMID:17312306|PMID:17440950|PMID:17531815|PMID:17576681|PMID:17665423|PMID:18383312|PMID:18772310|PMID:18822302|PMID:20305446|PMID:21879275|PMID:23047549|PMID:23729658|PMID:24033266|PMID:24278394|PMID:24362816|PMID:25081409|PMID:25479140|PMID:25525159|PMID:25741868|PMID:25964535|PMID:25987035|PMID:26467025|PMID:26951660|PMID:27449771|PMID:27601186|PMID:28492532|PMID:29212164|PMID:29967336|PMID:30998989|PMID:32295079|PMID:32849802|PMID:33357406|PMID:33471991|PMID:7585065|PMID:8640829|PMID:9222765|PMID:9536098|PMID:9718327|PMID:9774676 11808914 MSH2 mutS homolog 2 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:732745 D RGD:9068941 20210430 RGD mRNA:decreased expression:larynx PMID:23787767|REF_RGD_ID:126848783 11808914 MSH2 mutS homolog 2 gene DOID:3068 glioblastoma ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:25741868 11808914 MSH2 mutS homolog 2 gene DOID:3070 high grade glioma ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ependymoma PMID:11726306|PMID:15849733|PMID:17101317|PMID:25741868|PMID:28492532|PMID:28785832 11808914 MSH2 mutS homolog 2 gene DOID:3247 rhabdomyosarcoma ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:10080150|PMID:10323887|PMID:10375096|PMID:11151427|PMID:15849733|PMID:15872200|PMID:16216036|PMID:16736289|PMID:16996571|PMID:18270343|PMID:19731080|PMID:21642682|PMID:22034109|PMID:23990280|PMID:24344984|PMID:24362816|PMID:24549055|PMID:24851142|PMID:25117503|PMID:25194673|PMID:25430799|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27601186|PMID:28492532|PMID:28874130|PMID:30521064|PMID:31054147|PMID:31615790|PMID:33484353|PMID:8592341 11808914 MSH2 mutS homolog 2 gene DOID:3347 osteosarcoma disease_progression ISO RGD:732745 D RGD:9068941 20210430 RGD PMID:25503122|REF_RGD_ID:126848779 11808914 MSH2 mutS homolog 2 gene DOID:3459 breast carcinoma ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:10023327|PMID:10051005|PMID:10413423|PMID:10446963|PMID:10978353|PMID:11291077|PMID:11601928|PMID:11726306|PMID:11920650|PMID:12112654|PMID:12352241|PMID:12522549|PMID:12624141|PMID:15222003|PMID:15235030|PMID:15254659|PMID:15713769|PMID:15849733|PMID:15855432|PMID:16203774|PMID:16216036|PMID:16341550|PMID:16395668|PMID:16451135|PMID:16636019|PMID:16736289|PMID:16830052|PMID:17101317|PMID:17192056|PMID:17312306|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18270343|PMID:18325052|PMID:18383312|PMID:18460031|PMID:18566915|PMID:18772310|PMID:18951462|PMID:18951465|PMID:19130300|PMID:19267393|PMID:19419416|PMID:19459153|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20672385|PMID:20682701|PMID:21120944|PMID:21598002|PMID:21636617|PMID:21642682|PMID:21681552|PMID:21788563|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22883484|PMID:22949379|PMID:22949387|PMID:23329266|PMID:23760103|PMID:24033266|PMID:24040339|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24362816|PMID:24415873|PMID:24728327|PMID:24933000|PMID:25025451|PMID:25093288|PMID:25110875|PMID:25117503|PMID:25133505|PMID:25430799|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25795746|PMID:25980754|PMID:26096739|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26845104|PMID:26951660|PMID:27328445|PMID:27601186|PMID:27606285|PMID:28449805|PMID:28492532|PMID:28526081|PMID:28785832|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29489754|PMID:29575718|PMID:29659569|PMID:29769598|PMID:29889250|PMID:30019097|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30521064|PMID:30553995|PMID:30702970|PMID:30787465|PMID:30798936|PMID:30875412|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31332305|PMID:31444830|PMID:31491536|PMID:31615790|PMID:31660093|PMID:31742824|PMID:31857677|PMID:32075053|PMID:32658311|PMID:33357406|PMID:33471991|PMID:33484353|PMID:33726816|PMID:34178123|PMID:34347074|PMID:36073783|PMID:6096739|PMID:8062247|PMID:8566964|PMID:8872463|PMID:8895729|PMID:9036882|PMID:9288790|PMID:9536098 11808914 MSH2 mutS homolog 2 gene DOID:3459 breast carcinoma disease_progression ISO RGD:732745 D RGD:9068941 20200609 RGD PMID:10769643|REF_RGD_ID:2293524 11808914 MSH2 mutS homolog 2 gene DOID:3459 breast carcinoma severity ISO RGD:732745 D RGD:9068941 20200609 RGD PMID:17394628|REF_RGD_ID:2293505 11808914 MSH2 mutS homolog 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732745 D RGD:9068941 20210430 RGD DNA, protein:hypermethylation, decreased expression:esophagus PMID:24366688|REF_RGD_ID:126790573 11808914 MSH2 mutS homolog 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732745 D RGD:9068941 20210430 RGD DNA, protein:hypermethylation, decreased expression:promoter, esophagus PMID:22265839|REF_RGD_ID:126790560 11808914 MSH2 mutS homolog 2 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:732745 D RGD:9068941 20210430 RGD DNA, protein:hypermethylation, decreased expression:promoter, esophagus PMID:21674174|REF_RGD_ID:126790574 11808914 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11420466|PMID:11524701|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11854906|PMID:11857745|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:155342696|PMID:15571801|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310 11808914 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578 11808914 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32719484|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33046448|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 11808914 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32719484|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33046448|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 11808914 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104 11808914 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33046448|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33746161|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34117267|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699 11808914 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:9774676|PMID:9777949|PMID:9843200 11808914 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32809219|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33046448|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33746161|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34117267|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34837403|PMID:34906448|PMID:36073783|PMID:3616036|PMID:6096739|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098 11808914 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 11808914 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:155342696|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:15896463|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912 11808914 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870 11808914 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32809219|PMID:32832836|PMID:32844218 11808914 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 11808914 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:155342696|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912 11808914 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870 11808914 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107 11808914 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 11808914 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10630344|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:155342696|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062 11808914 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821 11808914 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177 11808914 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 11808914 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746 11808914 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900 11808914 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 11808914 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10630344|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265 11808914 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35449176|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 11808914 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25318351|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746 11808914 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864 11808914 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35449176|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 11808914 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome onset ISO RGD:732745 D RGD:9068941 20210430 RGD PMID:10404063|REF_RGD_ID:11063948 11808914 MSH2 mutS homolog 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732745 D RGD:9068941 20210430 RGD PMID:32211850|REF_RGD_ID:126848780 11808914 MSH2 mutS homolog 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732745 D RGD:9068941 20210430 RGD protein:decreased expression:lung PMID:16783774|REF_RGD_ID:126848791 11808914 MSH2 mutS homolog 2 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732745 D RGD:9068941 20210430 RGD DNA:SNP: :rs6544991 (human) PMID:28093084|REF_RGD_ID:126848786 11808914 MSH2 mutS homolog 2 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732745 D RGD:9068941 20210507 RGD PMID:20145178|PMID:20458443|REF_RGD_ID:126848789|REF_RGD_ID:126848800 11808914 MSH2 mutS homolog 2 gene DOID:3910 lung adenocarcinoma ISO RGD:732745 D RGD:9068941 20210507 RGD DNA:polymorphisms:introns:IVS10+12A>G, IVS12-6T>C (human) PMID:16614121|REF_RGD_ID:11065547 11808914 MSH2 mutS homolog 2 gene DOID:3910 lung adenocarcinoma no_association ISO RGD:732745 D RGD:9068941 20210507 RGD DNA:polymorphisms:promoter, intron:-118T>C, IVS1+9G>C (human) PMID:16614121|REF_RGD_ID:11065547 11808914 MSH2 mutS homolog 2 gene DOID:4450 renal cell carcinoma ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:18325052|PMID:21926548|PMID:24506336|PMID:24763289|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26878173|PMID:26951660|PMID:28195393|PMID:28202063|PMID:28492532|PMID:28640387|PMID:28828701|PMID:29887214|PMID:30306255|PMID:30998989|PMID:31297992|PMID:31391288|PMID:32658311|PMID:32719484|PMID:33357406|PMID:33471991|PMID:33630411|PMID:34426522 11808914 MSH2 mutS homolog 2 gene DOID:4606 bile duct cancer ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Bile duct cancer PMID:33357406 11808914 MSH2 mutS homolog 2 gene DOID:5119 ovarian cyst ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ovarian cyst PMID:10564582|PMID:15849733|PMID:15955785|PMID:16216036|PMID:17312306|PMID:17569143|PMID:19419416|PMID:21778331|PMID:24244552|PMID:24362816|PMID:25559809|PMID:25712738|PMID:25741868|PMID:26467025|PMID:26552419|PMID:26845104|PMID:28492532|PMID:29360161|PMID:31615790|PMID:31692600|PMID:31948886|PMID:8872463 11808914 MSH2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10080150|PMID:10469597|PMID:10612827|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21520333|PMID:21528233|PMID:21788563|PMID:22006311|PMID:22039344|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32566746|PMID:33357406|PMID:33471991|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9536098|PMID:9559627|PMID:9611074 11808914 MSH2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21788563|PMID:22006311|PMID:22039344|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26991699|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32566746|PMID:33357406|PMID:33471991|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9559627|PMID:9611074 11808914 MSH2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21788563|PMID:22006311|PMID:22039344|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26991699|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33357406|PMID:33471991|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9559627|PMID:9611074 11808914 MSH2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21788563|PMID:22006311|PMID:22039344|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26991699|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33357406|PMID:33471991|PMID:34117267|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9559627|PMID:9611074 11808914 MSH2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22039344|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26552419|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:34117267|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9559627|PMID:9611074 11808914 MSH2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:17011982|PMID:17095871|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26552419|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:34117267|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9559627|PMID:9611074 11808914 MSH2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16327991|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26552419|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:34117267|PMID:34347074|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:9298827|PMID:9559627|PMID:9611074 11808914 MSH2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12132870|PMID:12362047|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20388775|PMID:20587412|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25980754|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32957588|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:33848333|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34347074|PMID:34371384|PMID:35245693|PMID:35263119|PMID:3616036|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8993976|PMID:9298827|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522 11808914 MSH2 mutS homolog 2 gene DOID:630 genetic disease ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11808914 MSH2 mutS homolog 2 gene DOID:687 hepatoblastoma ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 11808914 MSH2 mutS homolog 2 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:732745 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:15807307|REF_RGD_ID:2293515 11808914 MSH2 mutS homolog 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:732745 D RGD:9068941 20210507 RGD associated with laryngeal squamous cell carcinoma PMID:24459922|REF_RGD_ID:126848797 11808914 MSH2 mutS homolog 2 gene DOID:9000457 Germ Cell and Embryonal Neoplasms disease_progression ISO RGD:732745 D RGD:9068941 20200609 RGD PMID:15492498|REF_RGD_ID:2293516 11808914 MSH2 mutS homolog 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732745 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:17390069|REF_RGD_ID:2293506 11808914 MSH2 mutS homolog 2 gene DOID:9001515 Angioma Serpiginosum, Autosomal Dominant ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angioma serpiginosum, autosomal dominant PMID:25741868|PMID:28492532 11808914 MSH2 mutS homolog 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:10375096|PMID:10413423|PMID:15713769|PMID:15849733|PMID:16216036|PMID:17348456|PMID:19731080|PMID:20215533|PMID:21598002|PMID:24362816|PMID:24710284|PMID:26467025|PMID:26485756|PMID:28492532|PMID:9777949 11808914 MSH2 mutS homolog 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:732745 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix PMID:17596548|REF_RGD_ID:2293504 11808914 MSH2 mutS homolog 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:732745 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:15807307|REF_RGD_ID:2293515 11808914 MSH2 mutS homolog 2 gene DOID:9003892 Mismatch Repair Cancer Syndrome 1 ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 PMID:10080150|PMID:10323887|PMID:10375096|PMID:11151427|PMID:11291077|PMID:11601928|PMID:12132870|PMID:12362047|PMID:12624141|PMID:15235030|PMID:15655560|PMID:15849733|PMID:15872200|PMID:16216036|PMID:16451135|PMID:16636019|PMID:16736289|PMID:16830052|PMID:16996571|PMID:17312306|PMID:17473388|PMID:17569143|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18772310|PMID:19419416|PMID:19731080|PMID:20007843|PMID:21387278|PMID:21598002|PMID:21642682|PMID:21868491|PMID:21926548|PMID:22034109|PMID:23990280|PMID:24344984|PMID:24362816|PMID:24415873|PMID:24474082|PMID:24506336|PMID:24549055|PMID:24763289|PMID:24851142|PMID:25093288|PMID:25110875|PMID:25117503|PMID:25194673|PMID:25430799|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26437257|PMID:26467025|PMID:26878173|PMID:26951660|PMID:27601186|PMID:27606285|PMID:27863258|PMID:28195393|PMID:28202063|PMID:28449805|PMID:28492532|PMID:28640387|PMID:28828701|PMID:28874130|PMID:28944238|PMID:29025352|PMID:29489754|PMID:29575718|PMID:29887214|PMID:29889250|PMID:30274973|PMID:30306255|PMID:30521064|PMID:30998989|PMID:31054147|PMID:31162827|PMID:31297992|PMID:31391288|PMID:31491536|PMID:31615790|PMID:31660093|PMID:31742824|PMID:32338768|PMID:32522261|PMID:32658311|PMID:32719484|PMID:33357406|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33630411|PMID:34426522|PMID:8566964|PMID:8592341|PMID:9288790 11808914 MSH2 mutS homolog 2 gene DOID:9004271 Colonic Polyps ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon polyps PMID:15849733|PMID:16341550|PMID:24549055|PMID:24556621|PMID:24728189|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27601186|PMID:27696107|PMID:28466842|PMID:28492532|PMID:30877237 11808914 MSH2 mutS homolog 2 gene DOID:9005147 Hydatidiform Mole ISO RGD:732745 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell PMID:15338238|REF_RGD_ID:2293517 11808914 MSH2 mutS homolog 2 gene DOID:9005761 Mismatch Repair Cancer Syndrome 2 ISO RGD:732745 D RGD:7240710 20201202 OMIM 11808914 MSH2 mutS homolog 2 gene DOID:9005761 Mismatch Repair Cancer Syndrome 2 ISO RGD:732745 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mismatch repair cancer syndrome 2 PMID:10190329|PMID:10196371|PMID:11809679|PMID:11920650|PMID:12549480|PMID:12658575|PMID:15235030|PMID:15713769|PMID:15849733|PMID:15855432|PMID:16372347|PMID:16639607|PMID:18781192|PMID:19459153|PMID:19698169|PMID:21642682|PMID:22883484|PMID:24033266|PMID:24090359|PMID:24362816|PMID:25117503|PMID:25370038|PMID:25430799|PMID:25569433|PMID:25648859|PMID:25673086|PMID:25741868|PMID:26467025|PMID:26681312|PMID:28492532|PMID:28944238|PMID:29887214|PMID:29967336|PMID:30322717|PMID:31054147|PMID:31857677|PMID:36073783|PMID:36988593|PMID:8521394 11808914 MSH2 mutS homolog 2 gene DOID:9005804 Vulvar Neoplasms ISO RGD:732745 D RGD:9068941 20200609 RGD protein:increased expression:vulva PMID:15870899|REF_RGD_ID:2293514 11808914 MSH2 mutS homolog 2 gene DOID:9006657 Colon Diverticulum ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colonic diverticula 11808914 MSH2 mutS homolog 2 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:18325052|PMID:21926548|PMID:24506336|PMID:24763289|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26878173|PMID:26951660|PMID:28195393|PMID:28202063|PMID:28492532|PMID:28640387|PMID:28828701|PMID:29887214|PMID:30306255|PMID:30998989|PMID:31297992|PMID:31391288|PMID:32658311|PMID:32719484|PMID:33357406|PMID:33471991|PMID:33630411|PMID:34426522 11808914 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11420466|PMID:11524701|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12792735|PMID:12875840|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14692024|PMID:14871975|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15872200|PMID:15926618|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17128465|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17720936|PMID:17846840|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121 11808914 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22086678|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:2695166|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27432916|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27628256|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310 11808914 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28580595|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29020732|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31494577|PMID:31512090|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31666926|PMID:31857677|PMID:31881200|PMID:31882575|PMID:32019277|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32660107|PMID:32741062|PMID:32941469|PMID:32957588|PMID:32986223|PMID:32994724|PMID:33357406|PMID:33383211|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34347074|PMID:34371384|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 11808914 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11420466|PMID:11524701|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12792735|PMID:12875840|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14692024|PMID:14871975|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15872200|PMID:15926618|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17128465|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17720936|PMID:17846840|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461 11808914 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22086678|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28785832|PMID:28828701|PMID:28873162 11808914 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28874130|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31666926|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32019277|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32741062|PMID:32849802|PMID:32941469|PMID:32957588|PMID:32986223|PMID:32994724|PMID:33357406|PMID:33383211|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34347074|PMID:34371384|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 11808914 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22086678|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002 11808914 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32719484|PMID:32741062|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 11808914 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32719484|PMID:32741062|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 11808914 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22086678|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567 11808914 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34117267|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 11808914 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14692024|PMID:14871975|PMID:14961575|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15340264|PMID:15340835|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15872200|PMID:15896463|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16826164|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17051350|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18822302|PMID:18931482 11808914 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22658618|PMID:22669205|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660 11808914 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31822864|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33110269|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34178123 11808914 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35223509|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 11808914 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14692024|PMID:14871975|PMID:14961575|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15340264|PMID:15340835|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16826164|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17051350|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575 11808914 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22669205|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293 11808914 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31822864|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33110269|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333 11808914 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:33850299|PMID:33939675|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 11808914 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14692024|PMID:14871975|PMID:14961575|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15340264|PMID:15340835|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16826164|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17051350|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310 11808914 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22669205|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440 11808914 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532 11808914 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14692024|PMID:14871975|PMID:14961575|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15340835|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16826164|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17051350|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18713544 11808914 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22669205|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25318351|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639 11808914 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694 11808914 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32986223|PMID:32994724|PMID:33015532|PMID:33110269|PMID:33191490|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35039564|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35449176|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 11808914 MSH2 mutS homolog 2 gene DOID:9007150 Urogenital Neoplasms ISO RGD:732745 D RGD:9068941 20200609 RGD protein:decreased expression PMID:16288216|REF_RGD_ID:2293511 11808914 MSH2 mutS homolog 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:732745 D RGD:9068941 20200609 RGD PMID:11920468|REF_RGD_ID:2293523 11808914 MSH2 mutS homolog 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:732745 D RGD:9068941 20200609 RGD DNA, protein:mutation, decreased expression:endometrium PMID:17925543|REF_RGD_ID:2298951 11808914 MSH2 mutS homolog 2 gene DOID:9007998 Hydatidiform Mole, Invasive ISO RGD:732745 D RGD:9068941 20200609 RGD protein:decreased expression:mononuclear cytotrophoblast cell PMID:15338238|REF_RGD_ID:2293517 11808914 MSH2 mutS homolog 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732745 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18949393 11808914 MSH2 mutS homolog 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:732745 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 11808914 MSH2 mutS homolog 2 gene DOID:9256 colorectal cancer ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:11208710|PMID:15520370|PMID:15849733|PMID:15872200|PMID:16574953|PMID:1710317|PMID:17531815|PMID:18033691|PMID:18383312|PMID:18822302|PMID:18951462|PMID:19389263|PMID:23047549|PMID:24033266|PMID:24728327|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26344056|PMID:26648449|PMID:26951660|PMID:27153395|PMID:27601186|PMID:28125075|PMID:28195393|PMID:28492532|PMID:28874130|PMID:29212164|PMID:29368341|PMID:29945567|PMID:30374176|PMID:30798936|PMID:31843900|PMID:9774676 11808914 MSH2 mutS homolog 2 gene DOID:9256 colorectal cancer ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:11208710|PMID:15520370|PMID:15849733|PMID:15872200|PMID:16574953|PMID:1710317|PMID:17531815|PMID:18033691|PMID:18383312|PMID:18822302|PMID:18951462|PMID:19389263|PMID:23047549|PMID:24033266|PMID:24728327|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26344056|PMID:26648449|PMID:26951660|PMID:27153395|PMID:27601186|PMID:28125075|PMID:28195393|PMID:28492532|PMID:28874130|PMID:29212164|PMID:29368341|PMID:29945567|PMID:30374176|PMID:30798936|PMID:31391288|PMID:31843900|PMID:33357406|PMID:33393477|PMID:33471991|PMID:34117267|PMID:34906448|PMID:9774676 11808914 MSH2 mutS homolog 2 gene DOID:9256 colorectal cancer ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer PMID:11208710|PMID:15520370|PMID:15849733|PMID:15872200|PMID:16574953|PMID:1710317|PMID:17531815|PMID:18033691|PMID:18383312|PMID:18822302|PMID:18951462|PMID:19389263|PMID:21520333|PMID:23047549|PMID:24033266|PMID:24728327|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26344056|PMID:26648449|PMID:26951660|PMID:27153395|PMID:27601186|PMID:28125075|PMID:28195393|PMID:28492532|PMID:28874130|PMID:29212164|PMID:29368341|PMID:29945567|PMID:30374176|PMID:30798936|PMID:31391288|PMID:31843900|PMID:33357406|PMID:33393477|PMID:33471991|PMID:34117267|PMID:34906448|PMID:9774676 11808914 MSH2 mutS homolog 2 gene DOID:9460 uterine corpus cancer ISO RGD:732745 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:11859205|PMID:21642682|PMID:36988593|PMID:9634524 11808934 ZNF414 zinc finger protein 414 gene DOID:0080490 mucolipidosis type IV ISO RGD:1603942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 11808934 ZNF414 zinc finger protein 414 gene DOID:12849 autistic disorder ISO RGD:1603942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11808934 ZNF414 zinc finger protein 414 gene DOID:630 genetic disease ISO RGD:1603942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808944 F2RL3 F2R like thrombin or trypsin receptor 3 gene DOID:13580 cholestasis ISO RGD:1351365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20974703 11808944 F2RL3 F2R like thrombin or trypsin receptor 3 gene DOID:630 genetic disease ISO RGD:1351365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808944 F2RL3 F2R like thrombin or trypsin receptor 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20974703 11808944 F2RL3 F2R like thrombin or trypsin receptor 3 gene DOID:914 peliosis hepatis ISO RGD:1351365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20974703 11808950 CHST8 carbohydrate sulfotransferase 8 gene DOID:0060041 autism spectrum disorder ISO RGD:1319067 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11808950 CHST8 carbohydrate sulfotransferase 8 gene DOID:0060283 peeling skin syndrome ISO RGD:1319067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11808950 CHST8 carbohydrate sulfotransferase 8 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1319067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11808950 CHST8 carbohydrate sulfotransferase 8 gene DOID:630 genetic disease ISO RGD:1319067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808950 CHST8 carbohydrate sulfotransferase 8 gene DOID:9008071 Peeling Skin Syndrome 3 ISO RGD:1319067 D RGD:7240710 20180130 OMIM 11808950 CHST8 carbohydrate sulfotransferase 8 gene DOID:9008071 Peeling Skin Syndrome 3 ISO RGD:1319067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peeling skin syndrome 3 PMID:22289416|PMID:25741868|PMID:28492532 11808961 SCLT1 sodium channel and clathrin linker 1 gene DOID:0060340 ciliopathy ISO RGD:1617550 D RGD:9068941 20220825 MouseDO 11808961 SCLT1 sodium channel and clathrin linker 1 gene DOID:0060382 orofaciodigital syndrome IX ISO RGD:731355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome IX 11808961 SCLT1 sodium channel and clathrin linker 1 gene DOID:0080171 esophageal atresia/tracheoesophageal fistula ISO RGD:731355 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula PMID:25741868|PMID:28492532 11808961 SCLT1 sodium channel and clathrin linker 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1617550 D RGD:9068941 20220825 MouseDO OMIM:263200 11808961 SCLT1 sodium channel and clathrin linker 1 gene DOID:11782 astigmatism ISO RGD:731355 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Astigmatism 11808961 SCLT1 sodium channel and clathrin linker 1 gene DOID:630 genetic disease ISO RGD:731355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11808961 SCLT1 sodium channel and clathrin linker 1 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:731355 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:25741868|PMID:28492532 11808992 SDF2L1 stromal cell derived factor 2 like 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1320780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 11808992 SDF2L1 stromal cell derived factor 2 like 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1320780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 11808992 SDF2L1 stromal cell derived factor 2 like 1 gene DOID:630 genetic disease ISO RGD:1320780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11808992 SDF2L1 stromal cell derived factor 2 like 1 gene DOID:8778 Crohn's disease ISO RGD:1320780 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 11808992 SDF2L1 stromal cell derived factor 2 like 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320780 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11808992 SDF2L1 stromal cell derived factor 2 like 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:1320780 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11808992 SDF2L1 stromal cell derived factor 2 like 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1585844 D RGD:9068941 20200609 RGD DNA:deletion:exons, introns:g.3_910del (rat) PMID:27463508|REF_RGD_ID:11528530 11809011 CD58 CD58 molecule gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1343400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413734 11809011 CD58 CD58 molecule gene DOID:2377 multiple sclerosis ISO RGD:1343400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19525955|PMID:24076602 11809011 CD58 CD58 molecule gene DOID:630 genetic disease ISO RGD:1343400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11809024 DYNLRB2 dynein light chain roadblock-type 2 gene DOID:0110256 cataract 21 multiple types ISO RGD:1315823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 21 multiple types PMID:28492532 11809024 DYNLRB2 dynein light chain roadblock-type 2 gene DOID:630 genetic disease ISO RGD:1315823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11809024 DYNLRB2 dynein light chain roadblock-type 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1315823 D RGD:9068941 20200609 RGD PMID:11750132|REF_RGD_ID:13208527 11809037 COASY Coenzyme A synthase gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1354088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:21264299|PMID:24360804|PMID:25741868|PMID:27021474|PMID:28357284|PMID:28489334|PMID:28492532|PMID:28688840|PMID:33644862 11809037 COASY Coenzyme A synthase gene DOID:0110740 neurodegeneration with brain iron accumulation 6 ISO RGD:1354088 D RGD:7240710 20180130 OMIM 11809037 COASY Coenzyme A synthase gene DOID:0110740 neurodegeneration with brain iron accumulation 6 ISO RGD:1354088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 6 PMID:16199547|PMID:17576681|PMID:21264299|PMID:24360804|PMID:25741868|PMID:27021474|PMID:28106320|PMID:28357284|PMID:28489334|PMID:28492532|PMID:28688840|PMID:30089828|PMID:31130284|PMID:33644862|PMID:9536098 11809037 COASY Coenzyme A synthase gene DOID:0111394 mucopolysaccharidosis type IIIB ISO RGD:1354088 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B PMID:28492532 11809037 COASY Coenzyme A synthase gene DOID:0112327 pontocerebellar hypoplasia type 12 ISO RGD:1354088 D RGD:7240710 20190315 OMIM 11809037 COASY Coenzyme A synthase gene DOID:0112327 pontocerebellar hypoplasia type 12 ISO RGD:1354088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 12 PMID:25741868|PMID:28492532|PMID:30089828 11809037 COASY Coenzyme A synthase gene DOID:12801 mucopolysaccharidosis III susceptibility ISO RGD:1354088 D RGD:9068941 20200609 RGD DNA:nonsense mutation, splice-site mutation, missense mutations:multiple PMID:11153910|REF_RGD_ID:1642057 11809037 COASY Coenzyme A synthase gene DOID:630 genetic disease ISO RGD:1354088 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24360804|PMID:25741868|PMID:28106320|PMID:28492532|PMID:30089828 11809061 C11H11orf96 chromosome 11 C11orf96 homolog gene DOID:1059 intellectual disability ISO RGD:4108561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11809080 ARHGDIA Rho GDP dissociation inhibitor alpha gene DOID:0080389 nephrotic syndrome type 8 ISO RGD:1354371 D RGD:7240710 20180130 OMIM 11809080 ARHGDIA Rho GDP dissociation inhibitor alpha gene DOID:0080389 nephrotic syndrome type 8 ISO RGD:1354371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 8 PMID:23867502|PMID:25741868|PMID:25741905|PMID:28492532 11809080 ARHGDIA Rho GDP dissociation inhibitor alpha gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1354371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome PMID:25741868 11809080 ARHGDIA Rho GDP dissociation inhibitor alpha gene DOID:10763 hypertension ISO RGD:1359547 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder PMID:19689474|REF_RGD_ID:9684972 11809080 ARHGDIA Rho GDP dissociation inhibitor alpha gene DOID:10763 hypertension ISO RGD:1359547 D RGD:9068941 20200609 RGD protein:decreased expression:cortical collecting duct PMID:25164814|REF_RGD_ID:9684979 11809080 ARHGDIA Rho GDP dissociation inhibitor alpha gene DOID:1184 nephrotic syndrome ISO RGD:1552296 D RGD:9068941 20220825 MouseDO OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861 11809080 ARHGDIA Rho GDP dissociation inhibitor alpha gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1354371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11809080 ARHGDIA Rho GDP dissociation inhibitor alpha gene DOID:630 genetic disease ISO RGD:1354371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11809080 ARHGDIA Rho GDP dissociation inhibitor alpha gene DOID:784 chronic kidney disease ISO RGD:1354371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868 11809080 ARHGDIA Rho GDP dissociation inhibitor alpha gene DOID:9000058 Keloid ISO RGD:1354371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 11809080 ARHGDIA Rho GDP dissociation inhibitor alpha gene DOID:9000965 Neoplasm Metastasis ISO RGD:1354371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 11809080 ARHGDIA Rho GDP dissociation inhibitor alpha gene DOID:9008939 Breast Neoplasms ISO RGD:1354371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1317732 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:11479539|PMID:11916958|PMID:14557463|PMID:14981520|PMID:15732094|PMID:16199547|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:17486577|PMID:17576681|PMID:18057387|PMID:18585921|PMID:18790819|PMID:19041432|PMID:19226263|PMID:19396477|PMID:20598714|PMID:20806400|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23142943|PMID:23292937|PMID:23553728|PMID:23564749|PMID:23963299|PMID:24024128|PMID:24345054|PMID:24604904|PMID:25219579|PMID:25454168|PMID:25487175|PMID:25588603|PMID:25741868|PMID:25832430|PMID:26282322|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27144933|PMID:27564575|PMID:27612026|PMID:27738760|PMID:27862672|PMID:27868354|PMID:28166811|PMID:28362824|PMID:28492532|PMID:28832565|PMID:29336362|PMID:29482223|PMID:30903322|PMID:31372974|PMID:31475473|PMID:31770241|PMID:32397312|PMID:5964029|PMID:9536098 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1317732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:11479539|PMID:11916958|PMID:12030893|PMID:14557463|PMID:14981520|PMID:15732094|PMID:16199547|PMID:16427281|PMID:16574104|PMID:16735770|PMID:1674639|PMID:17387721|PMID:17486577|PMID:17535271|PMID:17576681|PMID:18057387|PMID:18585921|PMID:18790819|PMID:19041432|PMID:19226263|PMID:19396477|PMID:19762912|PMID:19763152|PMID:20307669|PMID:20598714|PMID:20806400|PMID:21126715|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22406018|PMID:22474068|PMID:23142943|PMID:23292937|PMID:23553728|PMID:23564749|PMID:23659685|PMID:23963299|PMID:24024128|PMID:24345054|PMID:24604904|PMID:24778225|PMID:25219579|PMID:25454168|PMID:25487175|PMID:25588603|PMID:25741868|PMID:25832430|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27144933|PMID:27452399|PMID:27549087|PMID:27564575|PMID:27612026|PMID:27632409|PMID:27738760|PMID:27862672|PMID:27868354|PMID:28362824|PMID:28492532|PMID:28832565|PMID:28916377|PMID:29336362|PMID:29478747|PMID:29482223|PMID:29934652|PMID:30150100|PMID:30903322|PMID:30919572|PMID:31372974|PMID:31475473|PMID:31770241|PMID:32041611|PMID:32397312|PMID:32792356|PMID:5964029|PMID:9536098 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1317732 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:11479539|PMID:11916958|PMID:12030893|PMID:14557463|PMID:14981520|PMID:15732094|PMID:16199547|PMID:16427281|PMID:16574104|PMID:16735770|PMID:1674639|PMID:17387721|PMID:17486577|PMID:17535271|PMID:17576681|PMID:18057387|PMID:18585921|PMID:18790819|PMID:19041432|PMID:19226263|PMID:19396477|PMID:19762912|PMID:19763152|PMID:20307669|PMID:20598714|PMID:20806400|PMID:21126715|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22406018|PMID:22474068|PMID:23142943|PMID:23292937|PMID:23553728|PMID:23564749|PMID:23659685|PMID:23963299|PMID:24024128|PMID:24345054|PMID:24604904|PMID:24778225|PMID:25219579|PMID:25454168|PMID:25487175|PMID:25588603|PMID:25741868|PMID:25832430|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27144933|PMID:27452399|PMID:27549087|PMID:27612026|PMID:27632409|PMID:27738760|PMID:27862672|PMID:27868354|PMID:28362824|PMID:28492532|PMID:28832565|PMID:28916377|PMID:29336362|PMID:29478747|PMID:29482223|PMID:29934652|PMID:30150100|PMID:30903322|PMID:30919572|PMID:31372974|PMID:31475473|PMID:31770241|PMID:32041611|PMID:32397312|PMID:32792356|PMID:5964029|PMID:9536098 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0050585 congenital generalized lipodystrophy ISO RGD:1317732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brunzell syndrome | ClinVar Annotator: match by term: Congenital generalized lipodystrophy | ClinVar Annotator: match by term: Congenital lipoatrophic diabetes PMID:11479539|PMID:18093937|PMID:23564749|PMID:25741868|PMID:26467025|PMID:27452399|PMID:28492532 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0050788 proximal symphalangism ISO RGD:1317732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0070204 familial partial lipodystrophy type 3 ISO RGD:1317732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PPARG-related familial partial lipodystrophy 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1317732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:28492532 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0110770 hereditary spastic paraplegia 17 ISO RGD:1317732 D RGD:7240710 20180130 OMIM 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0110770 hereditary spastic paraplegia 17 ISO RGD:1317732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant spastic paraplegia type 17 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 PMID:14981520|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:17486577|PMID:18585921|PMID:18790819|PMID:19396477|PMID:20598714|PMID:20806400|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23142943|PMID:23553728|PMID:24345054|PMID:24604904|PMID:25219579|PMID:25454168|PMID:25487175|PMID:25741868|PMID:25832430|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27549087|PMID:27738760|PMID:27862672|PMID:28362824|PMID:28492532|PMID:31372974|PMID:31475473|PMID:5964029 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1317732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0111136 congenital generalized lipodystrophy type 2 ISO RGD:1317732 D RGD:7240710 20180523 OMIM 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0111136 congenital generalized lipodystrophy type 2 ISO RGD:1317732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BRUNZELL SYNDROME, BSCL2-RELATED | ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 2 | ClinVar Annotator: match by term: Congenital lipoatrophic diabetes PMID:11479539|PMID:11916958|PMID:12030893|PMID:12362029|PMID:14557463|PMID:15126564|PMID:17535271|PMID:17576681|PMID:18057387|PMID:18093937|PMID:19041432|PMID:19226263|PMID:19762912|PMID:20301391|PMID:21126715|PMID:23564749|PMID:23659685|PMID:23963299|PMID:23989774|PMID:24778225|PMID:25588603|PMID:25741868|PMID:26072926|PMID:26467025|PMID:27144933|PMID:27452399|PMID:27612026|PMID:27632409|PMID:28492532|PMID:28916377|PMID:29478747|PMID:30903322|PMID:31770241|PMID:32041611|PMID:32792356|PMID:9536098 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0111203 distal hereditary motor neuronopathy type 5 ISO RGD:1317732 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 5 PMID:14981520|PMID:17387721|PMID:17486577|PMID:20806400|PMID:21957196|PMID:24604904|PMID:25487175|PMID:25741868|PMID:25832430|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27738760|PMID:27862672|PMID:28362824|PMID:28492532|PMID:31372974|PMID:31475473 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0111204 distal hereditary motor neuronopathy type 5A ISO RGD:1317732 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: HMN 5A | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A PMID:14981520|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:17486577|PMID:18585921|PMID:18790819|PMID:19226263|PMID:19396477|PMID:20598714|PMID:20806400|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23553728|PMID:23963299|PMID:23989774|PMID:24345054|PMID:24604904|PMID:25219579|PMID:25454168|PMID:25487175|PMID:25588603|PMID:25741868|PMID:25832430|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27144933|PMID:27738760|PMID:27862672|PMID:28362824|PMID:28492532|PMID:31372974|PMID:31475473|PMID:5964029 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:1059 intellectual disability ISO RGD:1317732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1317732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:17387721|PMID:17486577|PMID:20806400|PMID:21957196|PMID:23142943|PMID:24604904|PMID:25487175|PMID:26815532|PMID:27549087|PMID:28492532 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:12336 male infertility ISO RGD:1317733 D RGD:9068941 20220825 MouseDO 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:14227 azoospermia ISO RGD:1308135 D RGD:9068941 20200609 RGD PMID:25934999|REF_RGD_ID:11085488 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:14228 oligospermia ISO RGD:1317732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26181198 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1317732 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:11479539|PMID:14981520|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:18585921|PMID:18790819|PMID:19396477|PMID:20598714|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23553728|PMID:23963299|PMID:24345054|PMID:25219579|PMID:25454168|PMID:25588603|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28492532|PMID:28832565|PMID:30004997|PMID:5964029 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1317732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:11479539|PMID:14981520|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:18585921|PMID:18790819|PMID:19396477|PMID:20598714|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23553728|PMID:23963299|PMID:24345054|PMID:25219579|PMID:25454168|PMID:25588603|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28832565|PMID:5964029 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:3459 breast carcinoma ISO RGD:1317732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast carcinoma 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:574 peripheral nervous system disease ISO RGD:1317732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:14981520|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:18585921|PMID:18790819|PMID:19396477|PMID:20598714|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23553728|PMID:24345054|PMID:25219579|PMID:25454168|PMID:25741868|PMID:26467025|PMID:28492532|PMID:5964029 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:630 genetic disease ISO RGD:1317732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11479539|PMID:12362029|PMID:14981520|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:18585921|PMID:18790819|PMID:19226263|PMID:19396477|PMID:20301391|PMID:20598714|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23553728|PMID:23963299|PMID:24345054|PMID:25219579|PMID:25454168|PMID:25588603|PMID:25741868|PMID:26072926|PMID:26467025|PMID:28492532|PMID:29336362|PMID:30150100|PMID:32041611|PMID:32397312|PMID:5964029 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:811 lipodystrophy ISO RGD:1317732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lipodystrophy PMID:25741868 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:870 neuropathy ISO RGD:1317732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:14981520|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:18585921|PMID:18790819|PMID:19396477|PMID:20598714|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23553728|PMID:24345054|PMID:25219579|PMID:25454168|PMID:25741868|PMID:26467025|PMID:28492532|PMID:5964029 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9001239 Delayed Puberty ISO RGD:1317732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25462787 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9001513 Asthenozoospermia ISO RGD:1317732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26181198 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9002605 Delayed Hypersensitivity ISO RGD:1317732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Reduced delayed hypersensitivity 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9004262 Isolated Systolic Hypertension ISO RGD:1317732 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated systolic hypertension PMID:25741868|PMID:28492532 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9006205 Animal Disease Models ISO RGD:1317732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25462787 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9006235 Distal Hereditary Motor Neuronopathy Type 5C ISO RGD:1317732 D RGD:7240710 20201223 OMIM 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9006235 Distal Hereditary Motor Neuronopathy Type 5C ISO RGD:1317732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DHMN VC | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5C PMID:11479539|PMID:12362029|PMID:14981520|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:17486577|PMID:18585921|PMID:18790819|PMID:19226263|PMID:19396477|PMID:20301391|PMID:20598714|PMID:20806400|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23142943|PMID:23292937|PMID:23553728|PMID:24345054|PMID:24604904|PMID:25219579|PMID:25454168|PMID:25487175|PMID:25741868|PMID:25832430|PMID:26072926|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27549087|PMID:27738760|PMID:27862672|PMID:28362824|PMID:28492532|PMID:31372974|PMID:31475473|PMID:32397312|PMID:5964029 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9007692 Insulin Resistance ISO RGD:1308135 D RGD:9068941 20200609 RGD PMID:25934999|REF_RGD_ID:11085488 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9007902 Progressive Encephalopathy, with or without Lipodystrophy ISO RGD:1317732 D RGD:7240710 20180130 OMIM 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9007902 Progressive Encephalopathy, with or without Lipodystrophy ISO RGD:1317732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, with or without lipodystrophy PMID:11479539|PMID:18093937|PMID:19226263|PMID:23564749|PMID:24024128|PMID:25741868|PMID:27452399|PMID:28492532 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9351 diabetes mellitus ISO RGD:1317732 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:23430896|PMID:23963299|PMID:25588603|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30004997 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9351 diabetes mellitus ISO RGD:1317732 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:23430896|PMID:23963299|PMID:25588603|PMID:25741868|PMID:26467025|PMID:28492532 11809111 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1308135 D RGD:9068941 20200609 RGD PMID:12584444|REF_RGD_ID:1600600 11809136 ADCY8 adenylate cyclase 8 gene DOID:0060001 withdrawal disorder ISO RGD:733733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16914643 11809136 ADCY8 adenylate cyclase 8 gene DOID:11713 diabetic angiopathy ISO RGD:733733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 11809136 ADCY8 adenylate cyclase 8 gene DOID:3324 mood disorder ISO RGD:733733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19691954 11809136 ADCY8 adenylate cyclase 8 gene DOID:630 genetic disease ISO RGD:733733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11809136 ADCY8 adenylate cyclase 8 gene DOID:9002362 Hyperkinesis ISO RGD:733733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16914643 11809163 GP6 glycoprotein VI platelet gene DOID:0111057 platelet-type bleeding disorder 11 ISO RGD:1343427 D RGD:7240710 20180130 OMIM 11809163 GP6 glycoprotein VI platelet gene DOID:0111057 platelet-type bleeding disorder 11 ISO RGD:1343427 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Platelet-type bleeding disorder 11 PMID:19549989|PMID:19552682|PMID:23815599|PMID:25741868|PMID:28492532|PMID:29232918|PMID:32935436 11809163 GP6 glycoprotein VI platelet gene DOID:2213 hemorrhagic disease ISO RGD:1343427 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:19549989|PMID:23815599|PMID:25741868|PMID:28492532|PMID:29232918|PMID:31064749|PMID:32935436 11809163 GP6 glycoprotein VI platelet gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:1618116 D RGD:9068941 20200609 RGD PMID:20651232|REF_RGD_ID:7242710 11809163 GP6 glycoprotein VI platelet gene DOID:630 genetic disease ISO RGD:1343427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11809179 CSRP2 cysteine and glycine rich protein 2 gene DOID:630 genetic disease ISO RGD:1352848 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11809202 SELENOH selenoprotein H gene DOID:0050860 colorectal adenoma ISO RGD:1354417 D RGD:9068941 20220407 RGD mRNA:increased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 11809202 SELENOH selenoprotein H gene DOID:0080199 colorectal carcinoma ISO RGD:1354417 D RGD:9068941 20220407 RGD mRNA:increased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 11809202 SELENOH selenoprotein H gene DOID:1059 intellectual disability ISO RGD:1354417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11809228 PAX2 paired box 2 gene DOID:0080204 renal hypoplasia ISO RGD:1313673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal hypoplasia PMID:25741868|PMID:35005812 11809228 PAX2 paired box 2 gene DOID:0080205 CAKUT ISO RGD:1313673 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:11093271|PMID:11241473|PMID:11461952|PMID:22213154|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:33532864|PMID:3377002|PMID:8589702|PMID:9106533 11809228 PAX2 paired box 2 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1313673 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:11093271|PMID:11241473|PMID:11461952|PMID:22213154|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:33532864|PMID:3377002|PMID:8589702|PMID:9106533 11809228 PAX2 paired box 2 gene DOID:0090006 renal coloboma syndrome ISO RGD:1313673 D RGD:7240710 20180130 OMIM 11809228 PAX2 paired box 2 gene DOID:0090006 renal coloboma syndrome ISO RGD:1313673 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Papillorenal syndrome with macular abnormalities | ClinVar Annotator: match by term: Renal coloboma syndrome PMID:10466411|PMID:10533062|PMID:11093271|PMID:11241473|PMID:11461952|PMID:15652857|PMID:16199547|PMID:17576681|PMID:20221250|PMID:20358591|PMID:21654726|PMID:22213154|PMID:22350371|PMID:23539225|PMID:24033266|PMID:24429398|PMID:24676634|PMID:25640679|PMID:25741868|PMID:2644560|PMID:27226968|PMID:27657687|PMID:28041643|PMID:28492532|PMID:28566479|PMID:29054766|PMID:29973660|PMID:30076350|PMID:30241513|PMID:30773290|PMID:31001663|PMID:31060108|PMID:31576025|PMID:31692565|PMID:32203253|PMID:32604935|PMID:32776440|PMID:33532864|PMID:3377002|PMID:34031707|PMID:34059960|PMID:34696790|PMID:7795640|PMID:8589702|PMID:8943028|PMID:9106533|PMID:9536098|PMID:9760197 11809228 PAX2 paired box 2 gene DOID:0111101 maturity-onset diabetes of the young type 5 ISO RGD:1313673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal cysts and diabetes syndrome PMID:27657687 11809228 PAX2 paired box 2 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1313673 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:11093271|PMID:11241473|PMID:11461952|PMID:22213154|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:33532864|PMID:3377002|PMID:8589702|PMID:9106533 11809228 PAX2 paired box 2 gene DOID:0111132 focal segmental glomerulosclerosis 7 ISO RGD:1313673 D RGD:7240710 20180130 OMIM 11809228 PAX2 paired box 2 gene DOID:0111132 focal segmental glomerulosclerosis 7 ISO RGD:1313673 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 7 PMID:11093271|PMID:11241473|PMID:11461952|PMID:21654726|PMID:22213154|PMID:22350371|PMID:23539225|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:32604935|PMID:33532864|PMID:3377002|PMID:8589702|PMID:9106533 11809228 PAX2 paired box 2 gene DOID:1184 nephrotic syndrome ISO RGD:1313673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 11809228 PAX2 paired box 2 gene DOID:12270 coloboma ISO RGD:1313673 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:25741868 11809228 PAX2 paired box 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1313673 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:11093271|PMID:11241473|PMID:11461952|PMID:22213154|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:33532864|PMID:3377002|PMID:8589702|PMID:9106533 11809228 PAX2 paired box 2 gene DOID:1826 epilepsy ISO RGD:1313673 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11809228 PAX2 paired box 2 gene DOID:2154 nephroblastoma ISO RGD:1305568 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:7937920|REF_RGD_ID:2316757 11809228 PAX2 paired box 2 gene DOID:2154 nephroblastoma ISO RGD:1313673 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:12057921|REF_RGD_ID:2316755 11809228 PAX2 paired box 2 gene DOID:289 endometriosis ISO RGD:1313673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22473392 11809228 PAX2 paired box 2 gene DOID:2975 cystic kidney disease ISO RGD:1313673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal cyst 11809228 PAX2 paired box 2 gene DOID:5176 renal Wilms' tumor ISO RGD:1313673 D RGD:9068941 20221103 RGD human tumor in mouse model PMID:18467665|REF_RGD_ID:155631277 11809228 PAX2 paired box 2 gene DOID:630 genetic disease ISO RGD:1313673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:34059960|PMID:34696790 11809228 PAX2 paired box 2 gene DOID:783 end stage renal disease ISO RGD:1313673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16631587 11809228 PAX2 paired box 2 gene DOID:784 chronic kidney disease treatment ISO RGD:1313673 D RGD:9068941 20221103 RGD human cells in rat model PMID:33298161|REF_RGD_ID:155631310 11809228 PAX2 paired box 2 gene DOID:8501 fundus dystrophy ISO RGD:1313673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28041643|PMID:28492532 11809228 PAX2 paired box 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1305568 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney cortex PMID:15149326|REF_RGD_ID:2316747 11809228 PAX2 paired box 2 gene DOID:9002739 Female Urogenital Diseases ISO RGD:1313673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 11809228 PAX2 paired box 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1305568 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:12444203|REF_RGD_ID:727468 11809261 U2SURP U2 snRNP associated SURP domain containing gene DOID:630 genetic disease ISO RGD:4892414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11809261 U2SURP U2 snRNP associated SURP domain containing gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:4892414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11809304 TBC1D25 TBC1 domain family member 25 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11809304 TBC1D25 TBC1 domain family member 25 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1351229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 11809304 TBC1D25 TBC1 domain family member 25 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1351229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11809304 TBC1D25 TBC1 domain family member 25 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1351229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11809304 TBC1D25 TBC1 domain family member 25 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1351229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11809304 TBC1D25 TBC1 domain family member 25 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1351229 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 11809304 TBC1D25 TBC1 domain family member 25 gene DOID:12849 autistic disorder ISO RGD:1351229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11809304 TBC1D25 TBC1 domain family member 25 gene DOID:14228 oligospermia ISO RGD:1351229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligospermia 11809304 TBC1D25 TBC1 domain family member 25 gene DOID:630 genetic disease ISO RGD:1351229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11809335 MRAP2 melanocortin 2 receptor accessory protein 2 gene DOID:630 genetic disease ISO RGD:1320449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11809335 MRAP2 melanocortin 2 receptor accessory protein 2 gene DOID:9970 obesity ISO RGD:1320449 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Body mass index quantitative trait locus 18 PMID:23869016|PMID:25741868|PMID:28492532 11809335 MRAP2 melanocortin 2 receptor accessory protein 2 gene DOID:9970 obesity susceptibility ISO RGD:1320449 D RGD:7240710 20190502 OMIM 11809379 MMP19 matrix metallopeptidase 19 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1322803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 11809379 MMP19 matrix metallopeptidase 19 gene DOID:0080600 COVID-19 ISO RGD:1322803 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11809379 MMP19 matrix metallopeptidase 19 gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:1322803 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell PMID:11438176|REF_RGD_ID:1642025 11809379 MMP19 matrix metallopeptidase 19 gene DOID:630 genetic disease ISO RGD:1322803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11809379 MMP19 matrix metallopeptidase 19 gene DOID:9003281 Spontaneous Abortions ISO RGD:1322803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11809379 MMP19 matrix metallopeptidase 19 gene DOID:9009011 Cavitary Optic Disc Anomalies ISO RGD:1322803 D RGD:7240710 20180130 OMIM 11809379 MMP19 matrix metallopeptidase 19 gene DOID:9009011 Cavitary Optic Disc Anomalies ISO RGD:1322803 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cavitary optic disc anomalies PMID:10764862|PMID:25581579|PMID:25741868|PMID:28492532 11809379 MMP19 matrix metallopeptidase 19 gene DOID:9970 obesity ISO RGD:1322804 D RGD:9068941 20200609 RGD PMID:15169894|REF_RGD_ID:1642022 11809379 MMP19 matrix metallopeptidase 19 gene DOID:9970 obesity ISO RGD:1322804 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue PMID:12529376|REF_RGD_ID:1642023 11809392 ATRAID all-trans retinoic acid induced differentiation factor gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1323150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11809392 ATRAID all-trans retinoic acid induced differentiation factor gene DOID:630 genetic disease ISO RGD:1323150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11809418 GBP6 guanylate binding protein family member 6 gene DOID:630 genetic disease ISO RGD:1354251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11809438 ISG20 interferon stimulated exonuclease gene 20 gene DOID:2717 Bloom syndrome ISO RGD:1315002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11809438 ISG20 interferon stimulated exonuclease gene 20 gene DOID:630 genetic disease ISO RGD:1315002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11809438 ISG20 interferon stimulated exonuclease gene 20 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11809438 ISG20 interferon stimulated exonuclease gene 20 gene DOID:9256 colorectal cancer ISO RGD:1315002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11809452 ZP2 zona pellucida glycoprotein 2 gene DOID:630 genetic disease ISO RGD:735363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11809452 ZP2 zona pellucida glycoprotein 2 gene DOID:9001599 Oocyte Maturation Defect 6 ISO RGD:735363 D RGD:7240710 20190315 OMIM 11809452 ZP2 zona pellucida glycoprotein 2 gene DOID:9001599 Oocyte Maturation Defect 6 ISO RGD:735363 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 6 PMID:25741868|PMID:28971300|PMID:29895852|PMID:30810869|PMID:35211729 11809478 ZFP41 ZFP41 zinc finger protein gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1606662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11809478 ZFP41 ZFP41 zinc finger protein gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1606662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11809478 ZFP41 ZFP41 zinc finger protein gene DOID:4621 holoprosencephaly ISO RGD:1606662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11809478 ZFP41 ZFP41 zinc finger protein gene DOID:630 genetic disease ISO RGD:1606662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11809500 SSTR1 somatostatin receptor 1 gene DOID:169 neuroendocrine tumor ISO RGD:737191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17625444 11809500 SSTR1 somatostatin receptor 1 gene DOID:1793 pancreatic cancer ISO RGD:737191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17625444 11809500 SSTR1 somatostatin receptor 1 gene DOID:1824 status epilepticus ISO RGD:737191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18951627 11809500 SSTR1 somatostatin receptor 1 gene DOID:630 genetic disease ISO RGD:737191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11809500 SSTR1 somatostatin receptor 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:737191 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11809500 SSTR1 somatostatin receptor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3762 D RGD:9068941 20200609 RGD PMID:7956902|REF_RGD_ID:2325008 11809506 SLC38A10 solute carrier family 38 member 10 gene DOID:630 genetic disease ISO RGD:1601937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11809534 CLEC16A C-type lectin domain containing 16A gene DOID:0060025 immunoglobulin alpha deficiency ISO RGD:1604037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20694011|PMID:27723758 11809534 CLEC16A C-type lectin domain containing 16A gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1604037 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 11809534 CLEC16A C-type lectin domain containing 16A gene DOID:12236 primary biliary cholangitis ISO RGD:1604037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21399635 11809534 CLEC16A C-type lectin domain containing 16A gene DOID:1289 neurodegenerative disease ISO RGD:1314008 D RGD:9068941 20220825 MouseDO 11809534 CLEC16A C-type lectin domain containing 16A gene DOID:13774 Addison's disease ISO RGD:1604037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18593762 11809534 CLEC16A C-type lectin domain containing 16A gene DOID:13774 Addison's disease ISO RGD:1604037 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:rs12917716C PMID:18593762|REF_RGD_ID:5491177 11809534 CLEC16A C-type lectin domain containing 16A gene DOID:2377 multiple sclerosis ISO RGD:1604037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18946483|PMID:19525955 11809534 CLEC16A C-type lectin domain containing 16A gene DOID:2377 multiple sclerosis ISO RGD:1604037 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:g.194570G>A, rs7184083 PMID:21653641|REF_RGD_ID:5491175 11809534 CLEC16A C-type lectin domain containing 16A gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1604037 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 11809534 CLEC16A C-type lectin domain containing 16A gene DOID:5812 MHC class II deficiency ISO RGD:1604037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11809534 CLEC16A C-type lectin domain containing 16A gene DOID:630 genetic disease ISO RGD:1604037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11809534 CLEC16A C-type lectin domain containing 16A gene DOID:7148 rheumatoid arthritis ISO RGD:1604037 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:rs6498169G PMID:19221398|REF_RGD_ID:5491176 11809534 CLEC16A C-type lectin domain containing 16A gene DOID:9074 systemic lupus erythematosus ISO RGD:1604037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838195 11809534 CLEC16A C-type lectin domain containing 16A gene DOID:9744 type 1 diabetes mellitus ISO RGD:1604037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17632545|PMID:18946483 11809534 CLEC16A C-type lectin domain containing 16A gene DOID:9744 type 1 diabetes mellitus ISO RGD:1604037 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:rs2903692A PMID:19221398|REF_RGD_ID:5491176 11809534 CLEC16A C-type lectin domain containing 16A gene DOID:9744 type 1 diabetes mellitus ISO RGD:1604037 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:rs725613 (human) PMID:18946483|REF_RGD_ID:2313978 11809576 SHC3 SHC adaptor protein 3 gene DOID:630 genetic disease ISO RGD:737159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11809576 SHC3 SHC adaptor protein 3 gene DOID:9005834 Ependymomas ISO RGD:737159 D RGD:9068941 20200609 RGD DNA:amplification:brain: PMID:19748727|REF_RGD_ID:13782069 11809593 LOC100972641 HLA class II histocompatibility antigen, DQ beta 2 chain gene DOID:0050553 JMP syndrome ISO RGD:1354401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11809593 LOC100972641 HLA class II histocompatibility antigen, DQ beta 2 chain gene DOID:0080600 COVID-19 ISO RGD:1354401 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11809612 MED4 mediator complex subunit 4 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1354139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11809612 MED4 mediator complex subunit 4 gene DOID:0080124 mitochondrial DNA depletion syndrome 5 ISO RGD:1354139 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:15877282|PMID:17301081|PMID:26475597|PMID:28492532 11809612 MED4 mediator complex subunit 4 gene DOID:1059 intellectual disability ISO RGD:1354139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11809612 MED4 mediator complex subunit 4 gene DOID:289 endometriosis ISO RGD:1354139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 11809612 MED4 mediator complex subunit 4 gene DOID:4362 cervical cancer severity ISO RGD:1354139 D RGD:9068941 20200609 RGD mRNA:decreased expression:uterine cervix (human) PMID:19911042|REF_RGD_ID:12880436 11809612 MED4 mediator complex subunit 4 gene DOID:630 genetic disease ISO RGD:1354139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11809612 MED4 mediator complex subunit 4 gene DOID:768 retinoblastoma ISO RGD:1354139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma PMID:12541220|PMID:14722923|PMID:15877282|PMID:17096365|PMID:17301081|PMID:22180099|PMID:26475597|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255 11809612 MED4 mediator complex subunit 4 gene DOID:768 retinoblastoma ISO RGD:1354139 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:12541220|PMID:14722923|PMID:17096365|PMID:22180099|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255 11809631 DHRS7B dehydrogenase/reductase 7B gene DOID:630 genetic disease ISO RGD:1601764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11809648 SCML4 Scm polycomb group protein like 4 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1322066 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 11809648 SCML4 Scm polycomb group protein like 4 gene DOID:630 genetic disease ISO RGD:1322066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11809665 SERP1 stress associated endoplasmic reticulum protein 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:1601762 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 11809665 SERP1 stress associated endoplasmic reticulum protein 1 gene DOID:630 genetic disease ISO RGD:1601762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11809673 WAC WW domain containing adaptor with coiled-coil gene DOID:0081126 DeSanto-Shinawi syndrome ISO RGD:1605391 D RGD:7240710 20190315 OMIM 11809673 WAC WW domain containing adaptor with coiled-coil gene DOID:0081126 DeSanto-Shinawi syndrome ISO RGD:1605391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, FACIAL DYSMORPHISM, AND OCULAR ABNORMALITIES | ClinVar Annotator: match by term: DeSanto-Shinawi syndrome | ClinVar Annotator: match by term: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation PMID:23033978|PMID:25741868|PMID:26264232|PMID:26757981|PMID:28191890|PMID:29190062 11809673 WAC WW domain containing adaptor with coiled-coil gene DOID:630 genetic disease ISO RGD:1605391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21522184|PMID:23033978|PMID:25356899|PMID:25741868|PMID:26264232|PMID:26325558|PMID:26757981|PMID:28492532 11809673 WAC WW domain containing adaptor with coiled-coil gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28319090 11809673 WAC WW domain containing adaptor with coiled-coil gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 11809704 MYO7A myosin VIIA gene DOID:0050439 Usher syndrome ISO RGD:732206 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16283880|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25262649|PMID:25333064|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26561413|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27208204|PMID:27344577|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28944237|PMID:28968992|PMID:29142287|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30718709|PMID:30881389|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:32097363|PMID:32428919|PMID:32747562|PMID:32860223|PMID:33111345|PMID:33187236|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9259201|PMID:9382091|PMID:9536098|PMID:9718356 11809704 MYO7A myosin VIIA gene DOID:0050439 Usher syndrome ISO RGD:732206 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22903915|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25262649|PMID:25333064|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26445815|PMID:26467025|PMID:26561413|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27208204|PMID:27344577|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28944237|PMID:28968992|PMID:29142287|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30718709|PMID:30881389|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:32097363|PMID:32428919|PMID:32747562|PMID:32860223|PMID:33111345|PMID:33187236|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9259201|PMID:9382091|PMID:9536098|PMID:9718356 11809704 MYO7A myosin VIIA gene DOID:0050439 Usher syndrome ISO RGD:732206 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26486028|PMID:26561413|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28944237|PMID:28968992|PMID:29048421|PMID:29142287|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30881389|PMID:31035849|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:31836858|PMID:32097363|PMID:32428919|PMID:32467589|PMID:32747562|PMID:32853555|PMID:32860223|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33924653|PMID:35802133|PMID:36633841|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9259201|PMID:9382091|PMID:9536098|PMID:9718356 11809704 MYO7A myosin VIIA gene DOID:0050563 nonsyndromic deafness ISO RGD:732206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:10094549|PMID:10930322|PMID:15300860|PMID:15823922|PMID:16199547|PMID:22135276|PMID:23770805|PMID:23804846|PMID:24033266|PMID:25404053|PMID:25741868|PMID:26445815|PMID:26969326|PMID:27460420|PMID:27573290|PMID:28492532|PMID:30303587|PMID:30311386|PMID:32097363|PMID:8900236 11809704 MYO7A myosin VIIA gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:732206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:10094549|PMID:10425080|PMID:10447383|PMID:10930322|PMID:12112664|PMID:15043528|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:18181211|PMID:19074810|PMID:20052763|PMID:21311020|PMID:21436283|PMID:21569298|PMID:21873662|PMID:22135276|PMID:22898263|PMID:23451239|PMID:23591405|PMID:23770805|PMID:24033266|PMID:24194196|PMID:25404053|PMID:25468891|PMID:25558175|PMID:25741868|PMID:25798947|PMID:26226137|PMID:26791358|PMID:27344577|PMID:27460420|PMID:27573290|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29692870|PMID:30303587|PMID:30718709|PMID:31479088|PMID:33187236|PMID:33269433|PMID:8900236 11809704 MYO7A myosin VIIA gene DOID:0060744 Pendred syndrome ISO RGD:732206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:24033266|PMID:28492532|PMID:30311386|PMID:30718709 11809704 MYO7A myosin VIIA gene DOID:0080600 COVID-19 ISO RGD:732206 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11809704 MYO7A myosin VIIA gene DOID:0110477 autosomal recessive nonsyndromic deafness 2 ISO RGD:732206 D RGD:7240710 20180130 OMIM 11809704 MYO7A myosin VIIA gene DOID:0110477 autosomal recessive nonsyndromic deafness 2 ISO RGD:732206 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 2 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2 PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:11391666|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19375528|PMID:19683999|PMID:19888295|PMID:20052763|PMID:20132242|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26486028|PMID:26561413|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27013738|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28944237|PMID:28968992|PMID:29048421|PMID:29099798|PMID:29142287|PMID:29178603|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390570|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30881389|PMID:31035849|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:32097363|PMID:32428919|PMID:32467589|PMID:32747562|PMID:32853555|PMID:32860223|PMID:33089500|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33297549|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33924653|PMID:35802133|PMID:36633841|PMID:7568224|PMID:7870171|PMID:7951250|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9171833|PMID:9259201|PMID:9382091|PMID:9536098|PMID:9718356 11809704 MYO7A myosin VIIA gene DOID:0110543 autosomal dominant nonsyndromic deafness 11 ISO RGD:732206 D RGD:7240710 20180130 OMIM 11809704 MYO7A myosin VIIA gene DOID:0110543 autosomal dominant nonsyndromic deafness 11 ISO RGD:732206 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 11 PMID:10094549|PMID:10425080|PMID:10447383|PMID:10930322|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16449806|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19461658|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:21150918|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21738395|PMID:21873662|PMID:22135276|PMID:22681893|PMID:22690115|PMID:22785243|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23383098|PMID:23451214|PMID:23451239|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:25080338|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26467025|PMID:26486028|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27160483|PMID:27344577|PMID:27460420|PMID:27573290|PMID:27610647|PMID:27729122|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28041643|PMID:28472130|PMID:28492532|PMID:28802369|PMID:28944237|PMID:29048421|PMID:29196752|PMID:29490346|PMID:29625443|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30459346|PMID:30718709|PMID:30881389|PMID:3130723|PMID:31456290|PMID:31479088|PMID:32097363|PMID:32681043|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33363762|PMID:33576163|PMID:33576794|PMID:34652575|PMID:35802133|PMID:36633841|PMID:8900236|PMID:9002678|PMID:9354784|PMID:9382091|PMID:9536098|PMID:9718356 11809704 MYO7A myosin VIIA gene DOID:0110826 Usher syndrome type 1 ISO RGD:732206 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:10094549|PMID:10364543|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:12080385|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16283880|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16786533|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22593002|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26469752|PMID:26486028|PMID:26561413|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28944237|PMID:28968992|PMID:29048421|PMID:29142287|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30881389|PMID:31035849|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:31836858|PMID:32097363|PMID:32428919|PMID:32467589|PMID:32747562|PMID:32853555|PMID:32860223|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33924653|PMID:35802133|PMID:36633841|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9259201|PMID:9382091|PMID:9536098|PMID:9718356 11809704 MYO7A myosin VIIA gene DOID:0110827 Usher syndrome type 2 ISO RGD:732206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2 PMID:25741868 11809704 MYO7A myosin VIIA gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:732206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome PMID:24033266|PMID:28492532 11809704 MYO7A myosin VIIA gene DOID:0111590 Cohen syndrome ISO RGD:732206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9382091 11809704 MYO7A myosin VIIA gene DOID:10003 sensorineural hearing loss ISO RGD:732206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:16449806|PMID:19461658|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28802369|PMID:30311386|PMID:34652575 11809704 MYO7A myosin VIIA gene DOID:10584 retinitis pigmentosa ISO RGD:732206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10094549|PMID:19074810|PMID:24033266|PMID:25404053|PMID:25741868|PMID:27957503|PMID:28492532|PMID:30303587|PMID:30311386|PMID:30718709|PMID:8900236 11809704 MYO7A myosin VIIA gene DOID:1059 intellectual disability ISO RGD:732206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11809704 MYO7A myosin VIIA gene DOID:14791 Leber congenital amaurosis ISO RGD:732206 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:c.578C>T (p.T193I)(human) PMID:21901789|REF_RGD_ID:11537385 11809704 MYO7A myosin VIIA gene DOID:1909 melanoma ISO RGD:732206 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11809704 MYO7A myosin VIIA gene DOID:3426 vestibular disease ISO RGD:732207 D RGD:9068941 20200609 RGD DNA:mutations:cds:multiple (mouse) PMID:9680294|REF_RGD_ID:4892285 11809704 MYO7A myosin VIIA gene DOID:630 genetic disease ISO RGD:732206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10094549|PMID:10930322|PMID:15043528|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:17361009|PMID:17576681|PMID:18463160|PMID:18484607|PMID:19683999|PMID:20052763|PMID:20513143|PMID:21436283|PMID:21569298|PMID:21873662|PMID:22135276|PMID:23770805|PMID:24033266|PMID:24199935|PMID:25404053|PMID:25525159|PMID:25741868|PMID:26226137|PMID:27460420|PMID:27743452|PMID:27957503|PMID:28041643|PMID:28492532|PMID:28944237|PMID:30303587|PMID:30311386|PMID:30459346|PMID:31479088|PMID:8900236|PMID:9536098 11809704 MYO7A myosin VIIA gene DOID:8501 fundus dystrophy ISO RGD:732206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10094549|PMID:10425080|PMID:10447383|PMID:10930322|PMID:12112664|PMID:15043528|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:18181211|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20497194|PMID:20513143|PMID:21311020|PMID:21436283|PMID:21569298|PMID:21873662|PMID:22135276|PMID:23148716|PMID:23208854|PMID:23451239|PMID:23591405|PMID:23770805|PMID:24033266|PMID:24199935|PMID:24831256|PMID:25080338|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25575603|PMID:25741868|PMID:25788563|PMID:26338283|PMID:26486028|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27460420|PMID:27583663|PMID:27743452|PMID:27957503|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28944237|PMID:29490346|PMID:30303587|PMID:30390570|PMID:30459346|PMID:31266775|PMID:31479088|PMID:31836858|PMID:32747562|PMID:33576163|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9259201|PMID:9382091|PMID:9536098 11809704 MYO7A myosin VIIA gene DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness ISO RGD:732206 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9382091 11809704 MYO7A myosin VIIA gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:732206 D RGD:7240710 20180130 OMIM 11809704 MYO7A myosin VIIA gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:732206 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:11391666|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16283880|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21150918|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23383098|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26486028|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28731162|PMID:28944237|PMID:28968992|PMID:29142287|PMID:29178603|PMID:29416772|PMID:29490346|PMID:29625443|PMID:30029497|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390570|PMID:30459346|PMID:30718709|PMID:30881389|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:32097363|PMID:32428919|PMID:32747562|PMID:32860223|PMID:33111345|PMID:33269433|PMID:33363762|PMID:33576163|PMID:7568224|PMID:7870171|PMID:7951250|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9171833|PMID:9259201|PMID:9354784|PMID:9382091|PMID:9536098|PMID:9718356|PMID:9843659 11809704 MYO7A myosin VIIA gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:732206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:11391666|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21150918|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23383098|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26486028|PMID:26561413|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28731162|PMID:28944237|PMID:28968992|PMID:29048421|PMID:29142287|PMID:29178603|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30029497|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390570|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30881389|PMID:31035849|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:32097363|PMID:32428919|PMID:32467589|PMID:32747562|PMID:32853555|PMID:32860223|PMID:33089500|PMID:33111345|PMID:33187236|PMID:33269433|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33924653|PMID:7568224|PMID:7870171|PMID:7951250|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9171833|PMID:9259201|PMID:9354784|PMID:9382091|PMID:9536098|PMID:9718356|PMID:9843659 11809704 MYO7A myosin VIIA gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:732206 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:11391666|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21150918|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23383098|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26486028|PMID:26561413|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28731162|PMID:28944237|PMID:28968992|PMID:29048421|PMID:29142287|PMID:29178603|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30029497|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390570|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30881389|PMID:31035849|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:32097363|PMID:32428919|PMID:32467589|PMID:32747562|PMID:32853555|PMID:32860223|PMID:33089500|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33924653|PMID:35802133|PMID:36633841|PMID:7568224|PMID:7870171|PMID:7951250|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9171833|PMID:9259201|PMID:9354784|PMID:9382091|PMID:9536098|PMID:9718356|PMID:9843659 11809704 MYO7A myosin VIIA gene DOID:9003365 Usher Syndrome Type 1B treatment ISO RGD:732206 D RGD:9068941 20200609 RGD PMID:23991031|REF_RGD_ID:8694151 11809704 MYO7A myosin VIIA gene DOID:9004538 Hearing Loss ISO RGD:732206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:16199547|PMID:21436283|PMID:21873662|PMID:22135276|PMID:23208854|PMID:24033266|PMID:25404053|PMID:25741868|PMID:26467025|PMID:26486028|PMID:26969326|PMID:27068579|PMID:27160483|PMID:28492532|PMID:30311386|PMID:30872814|PMID:8900236|PMID:9259201 11809704 MYO7A myosin VIIA gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:732206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:24033266|PMID:28492532 11809704 MYO7A myosin VIIA gene DOID:9008681 Deafness ISO RGD:732206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:22135276|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30303587 11809704 MYO7A myosin VIIA gene DOID:9649 congenital nystagmus ISO RGD:732206 D RGD:9068941 20200609 RGD associated with Leber Congenital Amaurosis;DNA:missense mutation:cds:c.578C>T (p.T193I)(human) PMID:21901789|REF_RGD_ID:11537385 11809704 MYO7A myosin VIIA gene DOID:9849 Meniere's disease ISO RGD:732206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:15221449|PMID:16470552|PMID:20146813|PMID:21487335|PMID:22681893|PMID:23804846|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28000701|PMID:28492532|PMID:30303587|PMID:30459346|PMID:33363762 11809762 PCDH18 protocadherin 18 gene DOID:630 genetic disease ISO RGD:1314160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11809777 LOC100976543 CEA cell adhesion molecule 6 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1350005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11809777 LOC100976543 CEA cell adhesion molecule 6 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1350005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11809777 LOC100976543 CEA cell adhesion molecule 6 gene DOID:14330 Parkinson's disease ISO RGD:1350005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 11809777 LOC100976543 CEA cell adhesion molecule 6 gene DOID:2340 craniosynostosis ISO RGD:1350005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11809777 LOC100976543 CEA cell adhesion molecule 6 gene DOID:5419 schizophrenia ISO RGD:1350005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11809777 LOC100976543 CEA cell adhesion molecule 6 gene DOID:630 genetic disease ISO RGD:1350005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11809777 LOC100976543 CEA cell adhesion molecule 6 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1350005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11809777 LOC100976543 CEA cell adhesion molecule 6 gene DOID:9003281 Spontaneous Abortions ISO RGD:1350005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11809777 LOC100976543 CEA cell adhesion molecule 6 gene DOID:9269 maple syrup urine disease ISO RGD:1350005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 11809791 CBLN1 cerebellin 1 precursor gene DOID:630 genetic disease ISO RGD:1348062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11809798 HBD hemoglobin subunit delta gene DOID:0080773 delta beta-thalassemia ISO RGD:1353990 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Delta-plus-thalassemia | ClinVar Annotator: match by term: Fetal hemoglobin quantitative trait locus 1 | ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:11939506|PMID:12402333|PMID:1398286|PMID:15921167|PMID:16434382|PMID:1742490|PMID:2798417|PMID:3401592 11809798 HBD hemoglobin subunit delta gene DOID:10241 thalassemia ISO RGD:1353990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemoglobin Lepore trait PMID:1347969|PMID:13892631|PMID:14133899|PMID:14478740|PMID:16114186|PMID:1693293|PMID:2442092|PMID:25741868|PMID:4625560|PMID:5356627|PMID:5660684|PMID:5964983|PMID:701081 11809798 HBD hemoglobin subunit delta gene DOID:1099 alpha thalassemia ISO RGD:1353990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: alpha Thalassemia PMID:1347969|PMID:13892631|PMID:14133899|PMID:1693293|PMID:2442092|PMID:25741868|PMID:4625560|PMID:5660684|PMID:5964983 11809798 HBD hemoglobin subunit delta gene DOID:2355 anemia ISO RGD:1353990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia PMID:1347969|PMID:13892631|PMID:14133899|PMID:1693293|PMID:2442092|PMID:25741868|PMID:4625560|PMID:5660684|PMID:5964983 11809798 HBD hemoglobin subunit delta gene DOID:2860 hemoglobinopathy ISO RGD:1353990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemoglobinopathy PMID:15315794|PMID:23491071|PMID:7510147 11809798 HBD hemoglobin subunit delta gene DOID:630 genetic disease ISO RGD:1353990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11809798 HBD hemoglobin subunit delta gene DOID:9000058 Keloid ISO RGD:1353990 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 11809798 HBD hemoglobin subunit delta gene DOID:9001341 Chloracne ISO RGD:1353990 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 11809798 HBD hemoglobin subunit delta gene DOID:9008244 Delta-Thalassemia ISO RGD:1353990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Delta-0-thalassemia | ClinVar Annotator: match by term: Delta-zero-thalassemia, knossos type | ClinVar Annotator: match by term: delta Thalassemia PMID:11939506|PMID:12402333|PMID:1301204|PMID:1309671|PMID:1398286|PMID:1515647|PMID:16434382|PMID:1742490|PMID:18221842|PMID:2018846|PMID:20678137|PMID:23215833|PMID:23806011|PMID:24601842|PMID:24985928|PMID:27387985|PMID:3401592|PMID:3676110|PMID:8118467|PMID:8330984|PMID:8364213 11809805 AANAT aralkylamine N-acetyltransferase gene DOID:0050628 advanced sleep phase syndrome ISO RGD:736736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12736803 11809805 AANAT aralkylamine N-acetyltransferase gene DOID:0050628 advanced sleep phase syndrome ISO RGD:736736 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.A129T(human) PMID:12736803|REF_RGD_ID:1300232 11809805 AANAT aralkylamine N-acetyltransferase gene DOID:0111141 delayed sleep phase syndrome ISO RGD:736736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Delayed sleep phase syndrome, susceptibility to PMID:12736803 11809805 AANAT aralkylamine N-acetyltransferase gene DOID:630 genetic disease ISO RGD:736736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11809805 AANAT aralkylamine N-acetyltransferase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2006 D RGD:9068941 20200609 RGD PMID:18624957|REF_RGD_ID:2301030 11809805 AANAT aralkylamine N-acetyltransferase gene DOID:9352 type 2 diabetes mellitus ISO RGD:2006 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, decreased activity:pineal gland PMID:16441550|REF_RGD_ID:2301037 11809820 GPR179 G protein-coupled receptor 179 gene DOID:0050534 congenital stationary night blindness ISO RGD:1601901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive | ClinVar Annotator: match by term: Congenital stationary night blindness PMID:22325361|PMID:22325362|PMID:24033266|PMID:25741868|PMID:28041643|PMID:28492532 11809820 GPR179 G protein-coupled receptor 179 gene DOID:0110869 congenital stationary night blindness 1E ISO RGD:1601901 D RGD:7240710 20180130 OMIM 11809820 GPR179 G protein-coupled receptor 179 gene DOID:0110869 congenital stationary night blindness 1E ISO RGD:1601901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1E PMID:22325361|PMID:22325362|PMID:23714322|PMID:24033266|PMID:24222301|PMID:25741868|PMID:28041643|PMID:28492532|PMID:30718709 11809820 GPR179 G protein-coupled receptor 179 gene DOID:10584 retinitis pigmentosa ISO RGD:1601901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532|PMID:30718709 11809820 GPR179 G protein-coupled receptor 179 gene DOID:630 genetic disease ISO RGD:1601901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11809820 GPR179 G protein-coupled receptor 179 gene DOID:8501 fundus dystrophy ISO RGD:1601901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:22325361|PMID:22325362|PMID:24033266|PMID:25741868|PMID:28041643|PMID:28492532 11809820 GPR179 G protein-coupled receptor 179 gene DOID:9000386 Polyomavirus Infections ISO RGD:1601901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25463609 11809835 TMC4 transmembrane channel like 4 gene DOID:630 genetic disease ISO RGD:1312473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11809863 ITPK1 inositol-tetrakisphosphate 1-kinase gene DOID:0080054 achondrogenesis type IA ISO RGD:1312967 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11809863 ITPK1 inositol-tetrakisphosphate 1-kinase gene DOID:630 genetic disease ISO RGD:1312967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11809863 ITPK1 inositol-tetrakisphosphate 1-kinase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1312967 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 11809884 HNRNPUL2 heterogeneous nuclear ribonucleoprotein U like 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11809884 HNRNPUL2 heterogeneous nuclear ribonucleoprotein U like 2 gene DOID:1059 intellectual disability ISO RGD:1606938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11809884 HNRNPUL2 heterogeneous nuclear ribonucleoprotein U like 2 gene DOID:12849 autistic disorder ISO RGD:1606938 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:35982159 11809884 HNRNPUL2 heterogeneous nuclear ribonucleoprotein U like 2 gene DOID:630 genetic disease ISO RGD:1606938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11809902 CEP63 centrosomal protein 63 gene DOID:0050569 Seckel syndrome ISO RGD:1617588 D RGD:9068941 20220825 MouseDO 11809902 CEP63 centrosomal protein 63 gene DOID:0070006 Seckel syndrome 6 ISO RGD:1602096 D RGD:7240710 20180130 OMIM 11809902 CEP63 centrosomal protein 63 gene DOID:0070006 Seckel syndrome 6 ISO RGD:1602096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seckel syndrome 6 PMID:16199547|PMID:21983783|PMID:23936128|PMID:25741868|PMID:26158450|PMID:28492532 11809902 CEP63 centrosomal protein 63 gene DOID:0080098 myofibrillar myopathy 7 ISO RGD:1602096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 7 PMID:25741868|PMID:27484770|PMID:27485408|PMID:30591934 11809902 CEP63 centrosomal protein 63 gene DOID:10907 microcephaly ISO RGD:1602096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983783 11809902 CEP63 centrosomal protein 63 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1602096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28488683 11809902 CEP63 centrosomal protein 63 gene DOID:630 genetic disease ISO RGD:1602096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:28492532 11809902 CEP63 centrosomal protein 63 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1602096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 11809973 PSMD11 proteasome 26S subunit, non-ATPase 11 gene DOID:630 genetic disease ISO RGD:1315074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11809973 PSMD11 proteasome 26S subunit, non-ATPase 11 gene DOID:9004590 Acute Liver Failure ISO RGD:1315074 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 11809995 DCXR dicarbonyl and L-xylulose reductase gene DOID:0111258 pentosuria ISO RGD:733826 D RGD:7240710 20180130 OMIM 11809995 DCXR dicarbonyl and L-xylulose reductase gene DOID:0111258 pentosuria ISO RGD:733826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential pentosuria PMID:22042873 11809995 DCXR dicarbonyl and L-xylulose reductase gene DOID:630 genetic disease ISO RGD:733826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11809995 DCXR dicarbonyl and L-xylulose reductase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11809995 DCXR dicarbonyl and L-xylulose reductase gene DOID:9002304 Prostatic Neoplasms ISO RGD:733826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11809995 DCXR dicarbonyl and L-xylulose reductase gene DOID:9970 obesity ISO RGD:733826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 11810012 S1PR4 sphingosine-1-phosphate receptor 4 gene DOID:630 genetic disease ISO RGD:1312457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11810012 S1PR4 sphingosine-1-phosphate receptor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11810012 S1PR4 sphingosine-1-phosphate receptor 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1312457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22406263 11810021 LOC100988147 polycystic kidney disease protein 1-like 2 gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1343423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:28492532 11810021 LOC100988147 polycystic kidney disease protein 1-like 2 gene DOID:2843 long QT syndrome ISO RGD:1343423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11810021 LOC100988147 polycystic kidney disease protein 1-like 2 gene DOID:630 genetic disease ISO RGD:1343423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11810021 LOC100988147 polycystic kidney disease protein 1-like 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1343423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11810066 LHX5 LIM homeobox 5 gene DOID:630 genetic disease ISO RGD:732692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11810075 WDR17 WD repeat domain 17 gene DOID:630 genetic disease ISO RGD:1349408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11810075 WDR17 WD repeat domain 17 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11810075 WDR17 WD repeat domain 17 gene DOID:9007188 Liver Neoplasms ISO RGD:1349408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11810125 FOSB FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1317837 D RGD:9068941 20220825 RGD protein:increased expression:tongue (human) PMID:26581505|REF_RGD_ID:11535375 11810125 FOSB FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:0080600 COVID-19 ISO RGD:1317837 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 11810125 FOSB FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:10937 impulse control disorder ISO RGD:1317837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539927 11810125 FOSB FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:1561 cognitive disorder ISO RGD:1317837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24067299 11810125 FOSB FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:1826 epilepsy ISO RGD:1317837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16391389 11810125 FOSB FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:480 movement disease ISO RGD:1317837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10600402 11810125 FOSB FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:630 genetic disease ISO RGD:1317837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11810125 FOSB FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1317837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11810125 FOSB FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:684 hepatocellular carcinoma ISO RGD:1317837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11810125 FOSB FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:1317837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26411935 11810125 FOSB FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:9005172 Lung Neoplasms ISO RGD:1317837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 11810125 FOSB FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1317837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12657709|PMID:17898221|PMID:18539927|PMID:19331462 11810125 FOSB FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:9007188 Liver Neoplasms ISO RGD:1317837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26411935 11810125 FOSB FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:9008331 Tendon Injuries treatment ISO RGD:1308198 D RGD:9068941 20200609 RGD PMID:23519232|REF_RGD_ID:10395300 11810125 FOSB FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:1317837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17219962 11810136 TRPC5OS TRPC5 opposite strand gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:5144676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11810136 TRPC5OS TRPC5 opposite strand gene DOID:12849 autistic disorder ISO RGD:5144676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11810136 TRPC5OS TRPC5 opposite strand gene DOID:5419 schizophrenia ISO RGD:5144676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11810136 TRPC5OS TRPC5 opposite strand gene DOID:630 genetic disease ISO RGD:5144676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11810150 GPR45 G protein-coupled receptor 45 gene DOID:630 genetic disease ISO RGD:1314767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11810155 PDHA2 pyruvate dehydrogenase E1 subunit alpha 2 gene DOID:0070188 spermatogenic failure 1 ISO RGD:1351234 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Oligosynaptic infertility PMID:29581481|PMID:35172124 11810155 PDHA2 pyruvate dehydrogenase E1 subunit alpha 2 gene DOID:14227 azoospermia ISO RGD:1351234 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Azoospermia PMID:29581481|PMID:35172124 11810155 PDHA2 pyruvate dehydrogenase E1 subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1351234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11810155 PDHA2 pyruvate dehydrogenase E1 subunit alpha 2 gene DOID:9001327 Spermatogenic Failure 70 ISO RGD:1351234 D RGD:7240710 20220427 OMIM 11810155 PDHA2 pyruvate dehydrogenase E1 subunit alpha 2 gene DOID:9001327 Spermatogenic Failure 70 ISO RGD:1351234 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 70 PMID:29581481|PMID:35172124 11810160 TDRD6 tudor domain containing 6 gene DOID:2843 long QT syndrome ISO RGD:1314293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11810160 TDRD6 tudor domain containing 6 gene DOID:630 genetic disease ISO RGD:1314293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11810209 ZNF329 zinc finger protein 329 gene DOID:630 genetic disease ISO RGD:1348045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11810249 MXRA8 matrix remodeling associated 8 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1346231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11810249 MXRA8 matrix remodeling associated 8 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1346231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11810249 MXRA8 matrix remodeling associated 8 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1346231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11810249 MXRA8 matrix remodeling associated 8 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1346231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11810249 MXRA8 matrix remodeling associated 8 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1346231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11810249 MXRA8 matrix remodeling associated 8 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1346231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11810249 MXRA8 matrix remodeling associated 8 gene DOID:0111934 immunodeficiency 38 ISO RGD:1346231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11810249 MXRA8 matrix remodeling associated 8 gene DOID:0111935 immunodeficiency 16 ISO RGD:1346231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11810249 MXRA8 matrix remodeling associated 8 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1346231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11810249 MXRA8 matrix remodeling associated 8 gene DOID:630 genetic disease ISO RGD:1346231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11810249 MXRA8 matrix remodeling associated 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11810249 MXRA8 matrix remodeling associated 8 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1346231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11810249 MXRA8 matrix remodeling associated 8 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1346231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11810262 ZFHX3 zinc finger homeobox 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1319399 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11810262 ZFHX3 zinc finger homeobox 3 gene DOID:0060224 atrial fibrillation ISO RGD:1319399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19597491|PMID:19597492|PMID:22544366|PMID:29892015|PMID:30061737 11810262 ZFHX3 zinc finger homeobox 3 gene DOID:10283 prostate cancer ISO RGD:1319399 D RGD:7240710 20180418 OMIM 11810262 ZFHX3 zinc finger homeobox 3 gene DOID:10283 prostate cancer susceptibility ISO RGD:1319399 D RGD:9068941 20200609 RGD DNA, mRNA:mutations, decreased expression: :multiple, prostate gland (human) PMID:15750593|REF_RGD_ID:2315695 11810262 ZFHX3 zinc finger homeobox 3 gene DOID:10283 prostate cancer susceptibility ISO RGD:1319399 D RGD:9068941 20200609 RGD DNA:deletion (human) PMID:16637072|REF_RGD_ID:2315694 11810262 ZFHX3 zinc finger homeobox 3 gene DOID:1324 lung cancer ISO RGD:1319399 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 11810262 ZFHX3 zinc finger homeobox 3 gene DOID:1612 breast cancer exacerbates ISO RGD:1319399 D RGD:9068941 20220303 RGD mRNA:decreased expression:breast (human) PMID:33217982|REF_RGD_ID:151361167 11810262 ZFHX3 zinc finger homeobox 3 gene DOID:2048 autoimmune hepatitis ISO RGD:1319399 D RGD:9068941 20220303 RGD protein:increased expression:blood serum (human) PMID:20534899|REF_RGD_ID:151361169 11810262 ZFHX3 zinc finger homeobox 3 gene DOID:3030 mucinous adenocarcinoma ISO RGD:1319399 D RGD:9068941 20220303 RGD protein:increased expression:colon, nucleus, cytoplasm (human) PMID:28713972|REF_RGD_ID:151361166 11810262 ZFHX3 zinc finger homeobox 3 gene DOID:3459 breast carcinoma disease_progression ISO RGD:1319399 D RGD:9068941 20200609 RGD PMID:15671546|REF_RGD_ID:2315696 11810262 ZFHX3 zinc finger homeobox 3 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1319399 D RGD:9068941 20220303 RGD DNA:mutations:multiple (human) PMID:32653938|REF_RGD_ID:151361163 11810262 ZFHX3 zinc finger homeobox 3 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1319399 D RGD:9068941 20220303 RGD mRNA:decreased expression:lung (human) PMID:23144151|REF_RGD_ID:151361164 11810262 ZFHX3 zinc finger homeobox 3 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1319399 D RGD:9068941 20220303 RGD DNA:mutations:multiple (human) PMID:32653938|REF_RGD_ID:151361163 11810262 ZFHX3 zinc finger homeobox 3 gene DOID:4362 cervical cancer ISO RGD:1319399 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix PMID:11812077|REF_RGD_ID:2315697 11810262 ZFHX3 zinc finger homeobox 3 gene DOID:4929 tubular adenocarcinoma exacerbates ISO RGD:1319399 D RGD:9068941 20220303 RGD protein:increased expression:colon, nucleus, cytoplasm (human) PMID:28713972|REF_RGD_ID:151361166 11810262 ZFHX3 zinc finger homeobox 3 gene DOID:630 genetic disease ISO RGD:1319399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11810262 ZFHX3 zinc finger homeobox 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1319399 D RGD:9068941 20220303 RGD associated with Chronic Hepatitis B;protein:decreased expression:blood serum (human) PMID:20534899|REF_RGD_ID:151361169 11810262 ZFHX3 zinc finger homeobox 3 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1319399 D RGD:9068941 20220303 RGD human cell line in a mouse model PMID:32277050|REF_RGD_ID:151361162 11810262 ZFHX3 zinc finger homeobox 3 gene DOID:687 hepatoblastoma ISO RGD:1319399 D RGD:9068941 20220303 RGD protein:increased expression:liver (human) PMID:33368532|REF_RGD_ID:151361168 11810262 ZFHX3 zinc finger homeobox 3 gene DOID:9000466 Prostate Cancer, Somatic ISO RGD:1319399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate cancer, somatic PMID:15750593 11810262 ZFHX3 zinc finger homeobox 3 gene DOID:9000965 Neoplasm Metastasis exacerbates ISO RGD:1319399 D RGD:9068941 20220303 RGD brain metastasis associated with lung adenocarcinoma;DNA:mutations:multiple (human) PMID:33479213|REF_RGD_ID:151361170 11810262 ZFHX3 zinc finger homeobox 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16637072|PMID:17013881|PMID:29610475 11810262 ZFHX3 zinc finger homeobox 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319399 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30559488 11810262 ZFHX3 zinc finger homeobox 3 gene DOID:9007096 Stroke ISO RGD:1319399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 11810262 ZFHX3 zinc finger homeobox 3 gene DOID:9007661 Dwarfism ISO RGD:1319399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11810262 ZFHX3 zinc finger homeobox 3 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1319399 D RGD:9068941 20220303 RGD protein:increased expression:blood serum (human) PMID:20534899|REF_RGD_ID:151361169 11810262 ZFHX3 zinc finger homeobox 3 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1319399 D RGD:9068941 20220303 RGD mRNA, protein:increased expression:colorectum (human) PMID:27435776|REF_RGD_ID:151361165 11810262 ZFHX3 zinc finger homeobox 3 gene DOID:9970 obesity ISO RGD:1319399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 11810276 TRRAP transformation/transcription domain associated protein gene DOID:0111455 GRACILE syndrome ISO RGD:1313479 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GRACILE syndrome PMID:25741868 11810276 TRRAP transformation/transcription domain associated protein gene DOID:0112166 autosomal dominant nonsyndromic deafness 75 ISO RGD:1313479 D RGD:7240710 20200226 OMIM 11810276 TRRAP transformation/transcription domain associated protein gene DOID:0112166 autosomal dominant nonsyndromic deafness 75 ISO RGD:1313479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 75 PMID:25741868|PMID:28492532|PMID:31231791 11810276 TRRAP transformation/transcription domain associated protein gene DOID:10283 prostate cancer ISO RGD:1313479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11810276 TRRAP transformation/transcription domain associated protein gene DOID:12849 autistic disorder ISO RGD:1313479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 11810276 TRRAP transformation/transcription domain associated protein gene DOID:1909 melanoma ISO RGD:1313479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 11810276 TRRAP transformation/transcription domain associated protein gene DOID:3307 teratoma ISO RGD:1313479 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 11810276 TRRAP transformation/transcription domain associated protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11810276 TRRAP transformation/transcription domain associated protein gene DOID:5419 schizophrenia ISO RGD:1313479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266|PMID:23042115 11810276 TRRAP transformation/transcription domain associated protein gene DOID:630 genetic disease ISO RGD:1313479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30827496 11810276 TRRAP transformation/transcription domain associated protein gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1313479 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 PMID:25741868 11810276 TRRAP transformation/transcription domain associated protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11810276 TRRAP transformation/transcription domain associated protein gene DOID:9008086 Developmental Disabilities ISO RGD:1313479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741898 11810276 TRRAP transformation/transcription domain associated protein gene DOID:9008582 Developmental Disease ISO RGD:1313479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11810276 TRRAP transformation/transcription domain associated protein gene DOID:9009182 Developmental Delay with or without Dysmorphic Facies and Autism ISO RGD:1313479 D RGD:7240710 20190911 OMIM 11810276 TRRAP transformation/transcription domain associated protein gene DOID:9009182 Developmental Delay with or without Dysmorphic Facies and Autism ISO RGD:1313479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with or without dysmorphic facies and autism | ClinVar Annotator: match by term: TRRAP-Related Disorder PMID:25741868|PMID:28492532|PMID:30424743|PMID:30827496 11810364 CRISPLD2 cysteine rich secretory protein LCCL domain containing 2 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1605611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 11810364 CRISPLD2 cysteine rich secretory protein LCCL domain containing 2 gene DOID:3602 toxic encephalopathy ISO RGD:1605611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11810364 CRISPLD2 cysteine rich secretory protein LCCL domain containing 2 gene DOID:409 liver disease ISO RGD:1605611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11810364 CRISPLD2 cysteine rich secretory protein LCCL domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1605611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11810364 CRISPLD2 cysteine rich secretory protein LCCL domain containing 2 gene DOID:630 genetic disease ISO RGD:1605611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11810364 CRISPLD2 cysteine rich secretory protein LCCL domain containing 2 gene DOID:850 lung disease ISO RGD:1605611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21069352 11810387 KCNIP3 potassium voltage-gated channel interacting protein 3 gene DOID:630 genetic disease ISO RGD:735835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11810411 STX5 syntaxin 5 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:68634 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11810411 STX5 syntaxin 5 gene DOID:1059 intellectual disability ISO RGD:68634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11810411 STX5 syntaxin 5 gene DOID:630 genetic disease ISO RGD:68634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11810437 DET1 DET1 partner of COP1 E3 ubiquitin ligase gene DOID:2717 Bloom syndrome ISO RGD:1348990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11810437 DET1 DET1 partner of COP1 E3 ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1348990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11810437 DET1 DET1 partner of COP1 E3 ubiquitin ligase gene DOID:9256 colorectal cancer ISO RGD:1348990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11810469 GRM1 glutamate metabotropic receptor 1 gene DOID:0050753 cerebellar ataxia ISO RGD:736303 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:36675067 11810469 GRM1 glutamate metabotropic receptor 1 gene DOID:0050871 fibroma ISO RGD:736303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24658000 11810469 GRM1 glutamate metabotropic receptor 1 gene DOID:0080062 autosomal recessive spinocerebellar ataxia 13 ISO RGD:736303 D RGD:7240710 20180130 OMIM 11810469 GRM1 glutamate metabotropic receptor 1 gene DOID:0080062 autosomal recessive spinocerebellar ataxia 13 ISO RGD:736303 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 13 PMID:19146831|PMID:19924463|PMID:22448230|PMID:25741868|PMID:25741889|PMID:26308914|PMID:26467025|PMID:28492532|PMID:31319223 11810469 GRM1 glutamate metabotropic receptor 1 gene DOID:0080286 spinocerebellar ataxia 44 ISO RGD:736303 D RGD:7240710 20190315 OMIM 11810469 GRM1 glutamate metabotropic receptor 1 gene DOID:0080286 spinocerebellar ataxia 44 ISO RGD:736303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 44 PMID:25741868|PMID:26467025|PMID:28492532|PMID:28886343 11810469 GRM1 glutamate metabotropic receptor 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:736303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138692 11810469 GRM1 glutamate metabotropic receptor 1 gene DOID:14261 fragile X syndrome ISO RGD:736303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fragile X syndrome 11810469 GRM1 glutamate metabotropic receptor 1 gene DOID:1824 status epilepticus ISO RGD:736303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15058486|PMID:17446080 11810469 GRM1 glutamate metabotropic receptor 1 gene DOID:1826 epilepsy ISO RGD:736303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19853022 11810469 GRM1 glutamate metabotropic receptor 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:2742 D RGD:9068941 20200609 RGD protein:increased expression:forebrain, postsynaptic density PMID:11226670|REF_RGD_ID:5147998 11810469 GRM1 glutamate metabotropic receptor 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:736303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15694259 11810469 GRM1 glutamate metabotropic receptor 1 gene DOID:6039 uveal melanoma ISO RGD:731957 D RGD:9068941 20220825 MouseDO OMIM:155720 | OMIM:606660 | OMIM:606661 11810469 GRM1 glutamate metabotropic receptor 1 gene DOID:630 genetic disease ISO RGD:736303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22448230|PMID:25741868|PMID:26467025|PMID:28492532 11810469 GRM1 glutamate metabotropic receptor 1 gene DOID:8923 skin melanoma ISO RGD:731957 D RGD:9068941 20220825 MouseDO OMIM:155601 | OMIM:608035 | OMIM:609048 | OMIM:612263 | OMIM:613099 | OMIM:613972 | OMIM:614456 | OMIM:615134 | OMIM:615848 11810469 GRM1 glutamate metabotropic receptor 1 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:736303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11810469 GRM1 glutamate metabotropic receptor 1 gene DOID:9007603 Bone Tissue Neoplasms ISO RGD:736303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24658000 11810469 GRM1 glutamate metabotropic receptor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:736303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741889|PMID:31319223 11810491 MINDY1 MINDY lysine 48 deubiquitinase 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1603985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11810491 MINDY1 MINDY lysine 48 deubiquitinase 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11810491 MINDY1 MINDY lysine 48 deubiquitinase 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11810491 MINDY1 MINDY lysine 48 deubiquitinase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1603985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11810491 MINDY1 MINDY lysine 48 deubiquitinase 1 gene DOID:5812 MHC class II deficiency ISO RGD:1603985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11810491 MINDY1 MINDY lysine 48 deubiquitinase 1 gene DOID:630 genetic disease ISO RGD:1603985 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11810491 MINDY1 MINDY lysine 48 deubiquitinase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:0050741 alcohol dependence ISO RGD:69220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alcohol dependence PMID:10627091|PMID:10780266|PMID:15654505|PMID:15902904|PMID:16046871|PMID:16440063|PMID:16679777|PMID:17885622|PMID:18056758|PMID:20010786|PMID:22992668|PMID:2987944|PMID:33355142|PMID:4065146|PMID:6650498|PMID:7180842|PMID:7593603|PMID:8903321 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:0060041 autism spectrum disorder ISO RGD:69220 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:0060071 pre-malignant neoplasm ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29718361 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: (rs671) (human) PMID:27214654|REF_RGD_ID:11536476 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:69218 D RGD:9068941 20200609 RGD PMID:25392542|PMID:31026768|REF_RGD_ID:15036808|REF_RGD_ID:15042863 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:0080952 AMED syndrome ISO RGD:69220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 7, DIGENIC PMID:10627091|PMID:10780266|PMID:15654505|PMID:15902904|PMID:16046871|PMID:16440063|PMID:16679777|PMID:17885622|PMID:18056758|PMID:20010786|PMID:22992668|PMID:2987944|PMID:33355142|PMID:4065146|PMID:6650498|PMID:7180842|PMID:7593603|PMID:8903321 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:10652 Alzheimer's disease onset ISO RGD:69220 D RGD:9068941 20200609 RGD PMID:15126281|REF_RGD_ID:1599042 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:10763 hypertension no_association ISO RGD:69220 D RGD:9068941 20200609 RGD PMID:12484509|REF_RGD_ID:1601163 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:10763 hypertension susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD PMID:11510748|REF_RGD_ID:1601164 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:114 heart disease ISO RGD:69219 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased activity:heart: PMID:20957334|REF_RGD_ID:7241590 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:12336 male infertility ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24448831 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:14018 alcoholic liver cirrhosis susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: (rs671) (human) PMID:23550892|REF_RGD_ID:15042864 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:14018 alcoholic liver cirrhosis susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E504K (human) PMID:29779728|REF_RGD_ID:14696777 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:14018 alcoholic liver cirrhosis susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD associated with alcohol dependence;DNA:missense mutation:exon 12:p.E487K (human) PMID:11051375|REF_RGD_ID:15042858 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:14330 Parkinson's disease ISO RGD:69220 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:24491970 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:1574 alcohol use disorder ISO RGD:69220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alcohol dependence PMID:10627091|PMID:10780266|PMID:15654505|PMID:15902904|PMID:16046871|PMID:16440063|PMID:16679777|PMID:17885622|PMID:18056758|PMID:20010786|PMID:22992668|PMID:2987944|PMID:33355142|PMID:4065146|PMID:6650498|PMID:7180842|PMID:7593603|PMID:8903321 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:178 vascular disease ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18596060 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:1793 pancreatic cancer susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:15714130|REF_RGD_ID:2325694 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:1793 pancreatic cancer susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.E504K (human) PMID:19068087|REF_RGD_ID:2325313 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:251 alcohol-induced mental disorder ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26711020 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:2841 asthma ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11506308|PMID:9600491 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:3454 brain infarction susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD PMID:17388993|REF_RGD_ID:1601161 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:3571 liver cancer ISO RGD:69218 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E487K (mouse) PMID:26150517|REF_RGD_ID:14696779 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16639733|PMID:22960999 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:409 liver disease susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD associated with metabolic syndrome;DNA:polymorphism PMID:16408483|REF_RGD_ID:1601162 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:4404 occupational dermatitis ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16758956 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:5041 esophageal cancer ISO RGD:69220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal cancer, alcohol-related, susceptibility to PMID:10627091|PMID:10780266|PMID:15654505|PMID:15902904|PMID:16046871|PMID:16440063|PMID:16679777|PMID:17885622|PMID:18056758|PMID:20010786|PMID:22992668|PMID:2987944|PMID:33355142|PMID:4065146|PMID:6650498|PMID:7180842|PMID:7593603|PMID:8903321 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:5844 myocardial infarction ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.E487K (human) PMID:12452318|REF_RGD_ID:2311152 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:630 genetic disease ISO RGD:69220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma no_association ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:missense mutation:exon 12: (human) PMID:10737710|REF_RGD_ID:15042859 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma severity ISO RGD:69220 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver (human) PMID:28027570|REF_RGD_ID:15036809 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:missense mutation:cds, exon 12:p.E487K (human) PMID:1916152|REF_RGD_ID:14696699 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: (rs671) (human) PMID:29765251|REF_RGD_ID:14700899 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD associated with alcohol use disorder;DNA:missense mutation:cds: (human) PMID:18439068|REF_RGD_ID:15042862 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD associated with alcoholic liver cirrhosis;DNA:missense mutation:cds:p.E487K (human) PMID:25778454|REF_RGD_ID:11054822 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA;missense mutation, haplotype:cds: (rs671) (human) PMID:26827895|REF_RGD_ID:15042857 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD associated with hepatitis C:DNA:SNP:exon 12 (human) PMID:12940444|REF_RGD_ID:14696778 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD protein:decreased expression: liver (human) PMID:26150517|REF_RGD_ID:14696779 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9000117 Esophageal Neoplasms ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8850269 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16404797|PMID:17590986 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:polymorphism:exon 12: (human) PMID:12198368|REF_RGD_ID:14981580 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9001285 Alcoholic Liver Diseases severity ISO RGD:69218 D RGD:9068941 20200609 RGD DNA:deletion:cds: (mouse) PMID:26173414|REF_RGD_ID:11076022 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9001285 Alcoholic Liver Diseases susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:missense mutation:cds, exon 12:p.E487K (human) PMID:1916152|REF_RGD_ID:14696699 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9001285 Alcoholic Liver Diseases susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:3189338|REF_RGD_ID:14696790 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15650968 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9001583 Melanosis ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30721697 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:69218 D RGD:9068941 20200609 RGD protein:altered expression:liver (mouse) PMID:30671488|REF_RGD_ID:15036807 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:69219 D RGD:9068941 20200609 RGD protein:altered expression:liver (rat) PMID:29589772|REF_RGD_ID:14975297 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9002661 Diabetes Complications ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23500772 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9004484 Sepsis treatment ISO RGD:69219 D RGD:9068941 20200609 RGD associated with heat shock treatment;protein:altered expression, altered phosphorylation:liver, mitochondria (rat) PMID:17607160|REF_RGD_ID:15036802 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:69218 D RGD:9068941 20200609 RGD PMID:22022451|REF_RGD_ID:7241603 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9006912 Acute Alcohol Sensitivity ISO RGD:69220 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Alcohol sensitivity, acute | ClinVar Annotator: match by term: Susceptibility to hangover PMID:10627091|PMID:10780266|PMID:15654505|PMID:15902904|PMID:16046871|PMID:16440063|PMID:16679777|PMID:17885622|PMID:18056758|PMID:20010786|PMID:22992668|PMID:25741868|PMID:28492532|PMID:2987944|PMID:33355142|PMID:4065146|PMID:6650498|PMID:7180842|PMID:7593603|PMID:8903321 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:69219 D RGD:9068941 20200609 RGD PMID:17058263|REF_RGD_ID:1599041 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9006944 Alcoholic Fatty Liver severity ISO RGD:69220 D RGD:9068941 20200609 RGD human transgene in mouse model PMID:25457208|REF_RGD_ID:15036811 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9006944 Alcoholic Fatty Liver susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E504K (human) PMID:29063269|REF_RGD_ID:14696776 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9006944 Alcoholic Fatty Liver treatment ISO RGD:69218 D RGD:9068941 20200609 RGD protein:altered processing:liver (mouse) PMID:29156373|REF_RGD_ID:15036805 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9007039 Ventricular Dysfunction ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23500772 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9007102 Myocardial Ischemia ISO RGD:69219 D RGD:9068941 20200609 RGD PMID:18787169|REF_RGD_ID:7241592 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:69219 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:21138988|REF_RGD_ID:7241599 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:69218 D RGD:9068941 20200609 RGD DNA:deletion:exon 3 (mouse) PMID:30121625|REF_RGD_ID:15036810 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:69218 D RGD:9068941 20200609 RGD DNA:deletion:exon 3 (mouse) PMID:24492981|REF_RGD_ID:14975148 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9007588 Heart Injuries ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23500772 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9007692 Insulin Resistance treatment ISO RGD:69219 D RGD:9068941 20200609 RGD protein:altered expression, altered activity:liver (rat) PMID:28688179|REF_RGD_ID:14981582 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9007763 Flushing ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8903321 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:69219 D RGD:9068941 20200609 RGD PMID:23468836|REF_RGD_ID:7241598 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9008443 Colorectal Neoplasms ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16332725 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9352 type 2 diabetes mellitus ISO RGD:69220 D RGD:9068941 20200609 RGD PMID:15563966|REF_RGD_ID:2311149 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9743 diabetic neuropathy ISO RGD:69218 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:15318096|REF_RGD_ID:2311150 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9743 diabetic neuropathy ISO RGD:69220 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:15318096|REF_RGD_ID:2311150 11810530 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9744 type 1 diabetes mellitus ISO RGD:69220 D RGD:9068941 20200609 RGD PMID:12706323|REF_RGD_ID:2311151 11810547 NR6A1 nuclear receptor subfamily 6 group A member 1 gene DOID:630 genetic disease ISO RGD:1345014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11810570 TTLL10 tubulin tyrosine ligase like 10 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1602419 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11810570 TTLL10 tubulin tyrosine ligase like 10 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602419 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11810570 TTLL10 tubulin tyrosine ligase like 10 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1602419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11810570 TTLL10 tubulin tyrosine ligase like 10 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1602419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11810570 TTLL10 tubulin tyrosine ligase like 10 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1602419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11810570 TTLL10 tubulin tyrosine ligase like 10 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1602419 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11810570 TTLL10 tubulin tyrosine ligase like 10 gene DOID:0111934 immunodeficiency 38 ISO RGD:1602419 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11810570 TTLL10 tubulin tyrosine ligase like 10 gene DOID:0111935 immunodeficiency 16 ISO RGD:1602419 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11810570 TTLL10 tubulin tyrosine ligase like 10 gene DOID:630 genetic disease ISO RGD:1602419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11810570 TTLL10 tubulin tyrosine ligase like 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11810570 TTLL10 tubulin tyrosine ligase like 10 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1602419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11810570 TTLL10 tubulin tyrosine ligase like 10 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1602419 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11810610 ARHGEF1 Rho guanine nucleotide exchange factor 1 gene DOID:0111991 immunodeficiency 62 ISO RGD:30307884 D RGD:7240710 20210922 OMIM 11810610 ARHGEF1 Rho guanine nucleotide exchange factor 1 gene DOID:0111991 immunodeficiency 62 ISO RGD:30307884 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 62 PMID:25741868|PMID:28492532|PMID:30521495 11810610 ARHGEF1 Rho guanine nucleotide exchange factor 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:30307884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11810610 ARHGEF1 Rho guanine nucleotide exchange factor 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:30307884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11810610 ARHGEF1 Rho guanine nucleotide exchange factor 1 gene DOID:2340 craniosynostosis ISO RGD:30307884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11810610 ARHGEF1 Rho guanine nucleotide exchange factor 1 gene DOID:5419 schizophrenia ISO RGD:30307884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11810610 ARHGEF1 Rho guanine nucleotide exchange factor 1 gene DOID:630 genetic disease ISO RGD:30307884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11810610 ARHGEF1 Rho guanine nucleotide exchange factor 1 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:30307884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11810610 ARHGEF1 Rho guanine nucleotide exchange factor 1 gene DOID:9269 maple syrup urine disease ISO RGD:30307884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11810653 RPUSD1 RNA pseudouridine synthase domain containing 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1344939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 11810653 RPUSD1 RNA pseudouridine synthase domain containing 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1344939 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11810653 RPUSD1 RNA pseudouridine synthase domain containing 1 gene DOID:10283 prostate cancer ISO RGD:1344939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11810653 RPUSD1 RNA pseudouridine synthase domain containing 1 gene DOID:1826 epilepsy ISO RGD:1344939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11810653 RPUSD1 RNA pseudouridine synthase domain containing 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11810653 RPUSD1 RNA pseudouridine synthase domain containing 1 gene DOID:630 genetic disease ISO RGD:1344939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11810662 AKR1B10 aldo-keto reductase family 1 member B10 gene DOID:0060041 autism spectrum disorder ISO RGD:1317959 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11810662 AKR1B10 aldo-keto reductase family 1 member B10 gene DOID:14566 disease of cellular proliferation ISO RGD:1317959 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17329238 11810662 AKR1B10 aldo-keto reductase family 1 member B10 gene DOID:1909 melanoma ISO RGD:1317959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 11810662 AKR1B10 aldo-keto reductase family 1 member B10 gene DOID:2773 contact dermatitis ISO RGD:1317959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11810662 AKR1B10 aldo-keto reductase family 1 member B10 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11810662 AKR1B10 aldo-keto reductase family 1 member B10 gene DOID:630 genetic disease ISO RGD:1317959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11810662 AKR1B10 aldo-keto reductase family 1 member B10 gene DOID:684 hepatocellular carcinoma ISO RGD:1317959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11810662 AKR1B10 aldo-keto reductase family 1 member B10 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1317959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25686905 11810662 AKR1B10 aldo-keto reductase family 1 member B10 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1317959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23146748 11810662 AKR1B10 aldo-keto reductase family 1 member B10 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1317959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17597105 11810675 DENND5B DENN domain containing 5B gene DOID:630 genetic disease ISO RGD:1605273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11810721 RASSF6 Ras association domain family member 6 gene DOID:630 genetic disease ISO RGD:1605848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11810721 RASSF6 Ras association domain family member 6 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1605848 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11810766 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:0060903 thrombosis ISO RGD:1313078 D RGD:9068941 20200609 RGD PMID:9845553|REF_RGD_ID:11059524 11810766 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1313077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11810766 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:0110916 hereditary spherocytosis type 1 ISO RGD:1313078 D RGD:9068941 20220825 MouseDO OMIM:182900 11810766 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:0110918 hereditary spherocytosis type 3 ISO RGD:1313077 D RGD:7240710 20180130 OMIM 11810766 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:0110918 hereditary spherocytosis type 3 ISO RGD:1313077 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis type 3 | ClinVar Annotator: match by term: Spherocytosis, type 3, autosomal recessive PMID:15071791|PMID:15384986|PMID:1638030|PMID:21212007|PMID:23241237|PMID:24033266|PMID:25741868|PMID:26002053|PMID:27292444|PMID:27667160|PMID:28492532|PMID:31038472|PMID:31147440|PMID:31333484|PMID:31602632|PMID:31723846|PMID:32581362|PMID:3785322|PMID:8081008|PMID:8370581|PMID:8941647 11810766 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:10923 sickle cell anemia ISO RGD:1313078 D RGD:9068941 20220825 MouseDO OMIM:603903 11810766 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:12971 hereditary spherocytosis ISO RGD:1313077 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant | ClinVar Annotator: match by term: Spherocytosis, Recessive PMID:15384986|PMID:24033266|PMID:25741868|PMID:27292444|PMID:28492532|PMID:30976395|PMID:31038472|PMID:31147440|PMID:31333484|PMID:31723846|PMID:8941647 11810766 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:12971 hereditary spherocytosis ISO RGD:1313077 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Recessive PMID:15384986|PMID:24033266|PMID:25741868|PMID:27292444|PMID:28492532|PMID:31038472|PMID:31147440|PMID:31333484|PMID:31723846|PMID:8941647 11810766 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1313077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11810766 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:2355 anemia ISO RGD:1313077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia PMID:25741868|PMID:31038472|PMID:31723846|PMID:32581362 11810766 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:2373 hereditary elliptocytosis ISO RGD:1313077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Elliptocytosis PMID:25741868|PMID:28492532 11810766 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:583 hemolytic anemia ISO RGD:1313077 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hemolytic anemia PMID:25741868|PMID:28492532|PMID:32581362 11810766 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:589 congenital hemolytic anemia ISO RGD:1313077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868|PMID:26002053|PMID:28492532 11810766 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:630 genetic disease ISO RGD:1313077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31040790|PMID:31723846 11810766 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:9000212 Hereditary Pyropoikilocytosis ISO RGD:1313077 D RGD:7240710 20180130 OMIM 11810766 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:9000212 Hereditary Pyropoikilocytosis ISO RGD:1313077 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary PMID:1191563|PMID:15071791|PMID:15384986|PMID:1541680|PMID:16150946|PMID:1638030|PMID:1642244|PMID:16730867|PMID:1679439|PMID:18218854|PMID:1845156|PMID:18815189|PMID:2043465|PMID:21212007|PMID:23241237|PMID:2328319|PMID:2346729|PMID:24033266|PMID:2567189|PMID:2568862|PMID:25741868|PMID:26002053|PMID:26467025|PMID:27292444|PMID:27667160|PMID:2794061|PMID:28090778|PMID:28298237|PMID:28492532|PMID:29729090|PMID:30317022|PMID:30393954|PMID:31038472|PMID:31147440|PMID:31286676|PMID:31333484|PMID:31723846|PMID:32581362|PMID:3597773|PMID:3708157|PMID:3785322|PMID:3922449|PMID:4027386|PMID:4077050|PMID:6236232|PMID:7074218|PMID:8068958|PMID:8081008|PMID:8370581|PMID:8434258|PMID:8435324|PMID:8444470|PMID:8790144|PMID:8857939|PMID:8941647|PMID:9192783|PMID:9746802 11810766 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:9000941 Elliptocytosis 2 ISO RGD:1313077 D RGD:7240710 20180130 OMIM 11810766 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:9000941 Elliptocytosis 2 ISO RGD:1313077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE | ClinVar Annotator: match by term: Elliptocytosis 2 PMID:1191563|PMID:15071791|PMID:15384986|PMID:1541680|PMID:16150946|PMID:1638030|PMID:1642244|PMID:16730867|PMID:1679439|PMID:18218854|PMID:1845156|PMID:18783249|PMID:1878597|PMID:18815189|PMID:19593814|PMID:20197550|PMID:2043465|PMID:21212007|PMID:23241237|PMID:2328319|PMID:2346729|PMID:2384601|PMID:23974198|PMID:24033266|PMID:2567189|PMID:2568861|PMID:25741868|PMID:26002053|PMID:26467025|PMID:27292444|PMID:27667160|PMID:2794061|PMID:28090778|PMID:28492532|PMID:2895677|PMID:29729090|PMID:30317022|PMID:30393954|PMID:31038472|PMID:31130284|PMID:31147440|PMID:31286676|PMID:31333484|PMID:31723846|PMID:32266426|PMID:32581362|PMID:32641076|PMID:3597773|PMID:3708157|PMID:3785322|PMID:3922449|PMID:4027386|PMID:4077050|PMID:7074218|PMID:8068958|PMID:8081008|PMID:8370581|PMID:8434258|PMID:8435324|PMID:8444470|PMID:8490186|PMID:8790144|PMID:8857939|PMID:8941647|PMID:9192783 11810766 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11810826 HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1317629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 11810826 HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:0050632 oculocutaneous albinism ISO RGD:1317629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:24033266|PMID:25741868|PMID:28492532 11810826 HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:0060542 Hermansky-Pudlak syndrome 4 ISO RGD:1317629 D RGD:7240710 20180130 OMIM 11810826 HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:0060542 Hermansky-Pudlak syndrome 4 ISO RGD:1317629 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 4 PMID:11836498|PMID:12664304|PMID:15108212|PMID:16199547|PMID:20158590|PMID:21833017|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29600982|PMID:30985222|PMID:31898847 11810826 HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:0110271 cataract 23 ISO RGD:1317629 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 11810826 HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:2223 platelet storage pool deficiency ISO RGD:1317630 D RGD:9068941 20220825 MouseDO OMIM:185050 11810826 HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1317629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:12664304|PMID:24033266|PMID:25741868|PMID:26575419|PMID:28492532|PMID:31898847 11810826 HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:5419 schizophrenia susceptibility ISO RGD:1317629 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:multiple: PMID:23563589|REF_RGD_ID:11353873 11810826 HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:630 genetic disease ISO RGD:1317629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11836498|PMID:12664304|PMID:15108212|PMID:28492532 11810826 HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:9001386 Albinism ISO RGD:1317629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Albinism PMID:12664304|PMID:16199547|PMID:25741868|PMID:28492532|PMID:29600982 11810870 CFAP52 cilia and flagella associated protein 52 gene DOID:630 genetic disease ISO RGD:1348671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11810870 CFAP52 cilia and flagella associated protein 52 gene DOID:758 situs inversus ISO RGD:1348671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Situs inversus | ClinVar Annotator: match by term: Situs inversus totalis PMID:16199547|PMID:25741868|PMID:28492532|PMID:33139725 11810870 CFAP52 cilia and flagella associated protein 52 gene DOID:9008028 Visceral Heterotaxy 10, Autosomal ISO RGD:1348671 D RGD:7240710 20211110 OMIM 11810870 CFAP52 cilia and flagella associated protein 52 gene DOID:9008028 Visceral Heterotaxy 10, Autosomal ISO RGD:1348671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 10, autosomal, with male infertility PMID:25469542|PMID:25741868|PMID:33139725 11810888 WDR20 WD repeat domain 20 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1315150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11810888 WDR20 WD repeat domain 20 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1315150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 11810888 WDR20 WD repeat domain 20 gene DOID:630 genetic disease ISO RGD:1315150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11810955 ZNF141 zinc finger protein 141 gene DOID:630 genetic disease ISO RGD:1353813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11810955 ZNF141 zinc finger protein 141 gene DOID:9003877 Postaxial Polydactyly, Type A6 ISO RGD:1353813 D RGD:7240710 20180509 OMIM 11810955 ZNF141 zinc finger protein 141 gene DOID:9003877 Postaxial Polydactyly, Type A6 ISO RGD:1353813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type A6 PMID:23160277|PMID:25741868 11810955 ZNF141 zinc finger protein 141 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1353813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:28492532 11810970 ZNF488 zinc finger protein 488 gene DOID:5419 schizophrenia ISO RGD:1320391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11810970 ZNF488 zinc finger protein 488 gene DOID:630 genetic disease ISO RGD:1320391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11810971 ELOA elongin A gene DOID:630 genetic disease ISO RGD:736026 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11810971 ELOA elongin A gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:736026 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11810986 SPMIP4 sperm associated microtubule inner protein 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11810986 SPMIP4 sperm associated microtubule inner protein 4 gene DOID:630 genetic disease ISO RGD:1349806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811050 NHLRC2 NHL repeat containing 2 gene DOID:630 genetic disease ISO RGD:1316494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11811050 NHLRC2 NHL repeat containing 2 gene DOID:9008399 FINCA Syndrome ISO RGD:1316494 D RGD:7240710 20190315 OMIM 11811050 NHLRC2 NHL repeat containing 2 gene DOID:9008399 FINCA Syndrome ISO RGD:1316494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrosis, neurodegeneration, and cerebral angiomatosis PMID:25741868|PMID:29423877|PMID:30138417|PMID:30239752|PMID:32435055|PMID:34165204 11811065 CABP4 calcium binding protein 4 gene DOID:0050534 congenital stationary night blindness ISO RGD:1314493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive | ClinVar Annotator: match by term: Congenital stationary night blindness PMID:25741868|PMID:28492532 11811065 CABP4 calcium binding protein 4 gene DOID:0050572 cone-rod dystrophy ISO RGD:1314493 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:19074807|PMID:23714322|PMID:25307992|PMID:25741868|PMID:28492532|PMID:29525873|PMID:29706639|PMID:30718709 11811065 CABP4 calcium binding protein 4 gene DOID:0050630 Aland Island eye disease ISO RGD:1314493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ocular albinism, type II PMID:30718709 11811065 CABP4 calcium binding protein 4 gene DOID:0050795 cone dystrophy ISO RGD:1314493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:25307992|PMID:25741868|PMID:28041643|PMID:28341476|PMID:28492532|PMID:29525873 11811065 CABP4 calcium binding protein 4 gene DOID:0080600 COVID-19 ISO RGD:1314493 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11811065 CABP4 calcium binding protein 4 gene DOID:1059 intellectual disability ISO RGD:1314493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11811065 CABP4 calcium binding protein 4 gene DOID:13911 achromatopsia ISO RGD:1314493 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:19074807|PMID:23714322|PMID:25307992|PMID:25741868|PMID:28492532|PMID:29525873|PMID:29706639|PMID:30718709 11811065 CABP4 calcium binding protein 4 gene DOID:630 genetic disease ISO RGD:1314493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11811065 CABP4 calcium binding protein 4 gene DOID:8501 fundus dystrophy ISO RGD:1314493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25307992|PMID:25741868|PMID:28041643|PMID:28341476|PMID:28492532|PMID:29525873|PMID:30718709 11811065 CABP4 calcium binding protein 4 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1314493 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11811065 CABP4 calcium binding protein 4 gene DOID:9004066 Congenital Stationary Night Blindness 2B ISO RGD:1314493 D RGD:7240710 20180130 OMIM 11811065 CABP4 calcium binding protein 4 gene DOID:9004066 Congenital Stationary Night Blindness 2B ISO RGD:1314493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod synaptic disorder, congenital nonprogressive PMID:16960802|PMID:19074807|PMID:20157620|PMID:23099293|PMID:23714322|PMID:25258313|PMID:25307992|PMID:25741868|PMID:26234941|PMID:28041643|PMID:28341476|PMID:28492532|PMID:29525873|PMID:29706639|PMID:30718709 11811065 CABP4 calcium binding protein 4 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1314493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11811082 PGK1 phosphoglycerate kinase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11811082 PGK1 phosphoglycerate kinase 1 gene DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ISO RGD:1353723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia PMID:28492532 11811082 PGK1 phosphoglycerate kinase 1 gene DOID:0111933 phosphoglycerate kinase 1 deficiency ISO RGD:1353723 D RGD:7240710 20180130 OMIM 11811082 PGK1 phosphoglycerate kinase 1 gene DOID:0111933 phosphoglycerate kinase 1 deficiency ISO RGD:1353723 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | ClinVar Annotator: match by term: PGK1-Related Disorder PMID:1547346|PMID:1586722|PMID:16412025|PMID:16567715|PMID:16671097|PMID:16740138|PMID:19157875|PMID:2001457|PMID:22348148|PMID:25741868|PMID:2715616|PMID:27848944|PMID:28492532|PMID:31175295|PMID:3840329|PMID:411673|PMID:4676843|PMID:5764452|PMID:6770677|PMID:6933565|PMID:7391028|PMID:7577653|PMID:8043870|PMID:9512313|PMID:9744480 11811082 PGK1 phosphoglycerate kinase 1 gene DOID:12849 autistic disorder ISO RGD:1353723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11811082 PGK1 phosphoglycerate kinase 1 gene DOID:1838 Menkes disease ISO RGD:1353723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Menkes kinky-hair syndrome PMID:28492532 11811082 PGK1 phosphoglycerate kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:1353723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 11811082 PGK1 phosphoglycerate kinase 1 gene DOID:583 hemolytic anemia ISO RGD:1353723 D RGD:9068941 20200609 RGD PMID:16740138|REF_RGD_ID:1599123 11811082 PGK1 phosphoglycerate kinase 1 gene DOID:630 genetic disease ISO RGD:1353723 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11811082 PGK1 phosphoglycerate kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1353723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11811082 PGK1 phosphoglycerate kinase 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:1353723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 11811082 PGK1 phosphoglycerate kinase 1 gene DOID:9006783 Young Syndrome ISO RGD:1353723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility due to obstructive azoospermia 11811102 FAM20B FAM20B glycosaminoglycan xylosylkinase gene DOID:1540 parathyroid carcinoma ISO RGD:1322474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11811102 FAM20B FAM20B glycosaminoglycan xylosylkinase gene DOID:630 genetic disease ISO RGD:1322474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811102 FAM20B FAM20B glycosaminoglycan xylosylkinase gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1322474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11811102 FAM20B FAM20B glycosaminoglycan xylosylkinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11811118 MATN2 matrilin 2 gene DOID:630 genetic disease ISO RGD:1313328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811142 WNT2 Wnt family member 2 gene DOID:10283 prostate cancer ISO RGD:736431 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland PMID:14517837|REF_RGD_ID:727214 11811142 WNT2 Wnt family member 2 gene DOID:11832 visual epilepsy ISO RGD:621346 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:14625142|REF_RGD_ID:2326231 11811142 WNT2 Wnt family member 2 gene DOID:12849 autistic disorder ISO RGD:736431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11449391|PMID:19895723 11811142 WNT2 Wnt family member 2 gene DOID:1612 breast cancer ISO RGD:736431 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:15736421|REF_RGD_ID:2291874 11811142 WNT2 Wnt family member 2 gene DOID:2871 endometrial carcinoma ISO RGD:736431 D RGD:9068941 20200609 RGD mRNA:decreased expression:endometrium PMID:9099960|REF_RGD_ID:2291875 11811142 WNT2 Wnt family member 2 gene DOID:3459 breast carcinoma disease_progression ISO RGD:736431 D RGD:9068941 20200609 RGD DNA:amplification:breast PMID:7903963|REF_RGD_ID:2291879 11811142 WNT2 Wnt family member 2 gene DOID:3996 urinary system cancer ISO RGD:736431 D RGD:9068941 20200609 RGD DNA:amplification PMID:8064891|REF_RGD_ID:2291877 11811142 WNT2 Wnt family member 2 gene DOID:4450 renal cell carcinoma ISO RGD:736431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:28492532 11811142 WNT2 Wnt family member 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11811142 WNT2 Wnt family member 2 gene DOID:630 genetic disease ISO RGD:736431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811142 WNT2 Wnt family member 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:736431 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:SNP: :rs4730775(human) PMID:28328801|REF_RGD_ID:14402040 11811142 WNT2 Wnt family member 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:736431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25061499 11811142 WNT2 Wnt family member 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736431 D RGD:9068941 20200609 RGD in vitro transformation of transfected C57MG mammary epithelial cell line PMID:8065359|PMID:9419423|REF_RGD_ID:2298848|REF_RGD_ID:2298863 11811142 WNT2 Wnt family member 2 gene DOID:9006947 Fibroadenoma ISO RGD:736431 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:8168088|REF_RGD_ID:2291878 11811142 WNT2 Wnt family member 2 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:736431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:28492532 11811151 MSMP microseminoprotein, prostate associated gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:2304156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11811151 MSMP microseminoprotein, prostate associated gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:2304156 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11811151 MSMP microseminoprotein, prostate associated gene DOID:0080942 anauxetic dysplasia ISO RGD:2304156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11811151 MSMP microseminoprotein, prostate associated gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:2304156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11811151 MSMP microseminoprotein, prostate associated gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:2304156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11811151 MSMP microseminoprotein, prostate associated gene DOID:630 genetic disease ISO RGD:2304156 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811151 MSMP microseminoprotein, prostate associated gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:2304156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11811151 MSMP microseminoprotein, prostate associated gene DOID:9562 primary ciliary dyskinesia ISO RGD:2304156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11811151 MSMP microseminoprotein, prostate associated gene DOID:9870 galactosemia ISO RGD:2304156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11811158 GREM2 gremlin 2, DAN family BMP antagonist gene DOID:1540 parathyroid carcinoma ISO RGD:1350364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11811158 GREM2 gremlin 2, DAN family BMP antagonist gene DOID:630 genetic disease ISO RGD:1350364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811158 GREM2 gremlin 2, DAN family BMP antagonist gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11811158 GREM2 gremlin 2, DAN family BMP antagonist gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1350364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 11811158 GREM2 gremlin 2, DAN family BMP antagonist gene DOID:9008387 Selective Tooth Agenesis 9 ISO RGD:1350364 D RGD:7240710 20190315 OMIM 11811158 GREM2 gremlin 2, DAN family BMP antagonist gene DOID:9008387 Selective Tooth Agenesis 9 ISO RGD:1350364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 9 PMID:23401279|PMID:25741868|PMID:26416033 11811158 GREM2 gremlin 2, DAN family BMP antagonist gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11811164 GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1318653 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11811164 GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase gene DOID:0060898 Parkinson's disease 20 ISO RGD:1318653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 11811164 GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1318653 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11811164 GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase gene DOID:14250 Down syndrome ISO RGD:1318653 D RGD:9068941 20200609 RGD protein:increased expression:cerebellum (human) PMID:9328467|REF_RGD_ID:5143983 11811164 GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase gene DOID:3910 lung adenocarcinoma ISO RGD:1318653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11811164 GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase gene DOID:630 genetic disease ISO RGD:1318653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811164 GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase gene DOID:7148 rheumatoid arthritis ISO RGD:1318653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 11811164 GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase gene DOID:9005698 ZTTK Syndrome ISO RGD:1318653 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 11811164 GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase gene DOID:9006205 Animal Disease Models ISO RGD:1318653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11811164 GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1318653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 11811199 FBXL4 F-box and leucine rich repeat protein 4 gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:1313923 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:23993193|PMID:24033266|PMID:25741868|PMID:27099744|PMID:27290639|PMID:30771478|PMID:30804983 11811199 FBXL4 F-box and leucine rich repeat protein 4 gene DOID:0080131 mitochondrial DNA depletion syndrome 13 ISO RGD:1313923 D RGD:7240710 20180130 OMIM 11811199 FBXL4 F-box and leucine rich repeat protein 4 gene DOID:0080131 mitochondrial DNA depletion syndrome 13 ISO RGD:1313923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 13 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) PMID:16199547|PMID:23993193|PMID:23993194|PMID:24033266|PMID:24088041|PMID:25326635|PMID:25558065|PMID:25741868|PMID:25868664|PMID:26633545|PMID:27099744|PMID:27182039|PMID:27182309|PMID:27290639|PMID:27743463|PMID:27858371|PMID:28327206|PMID:28492532|PMID:28940506|PMID:30771478|PMID:30804983|PMID:31474762|PMID:32348839|PMID:32576985 11811199 FBXL4 F-box and leucine rich repeat protein 4 gene DOID:3652 Leigh disease ISO RGD:1313923 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:23993194|PMID:25558065|PMID:25741868|PMID:25868664|PMID:27743463|PMID:28492532|PMID:28940506|PMID:30804983 11811199 FBXL4 F-box and leucine rich repeat protein 4 gene DOID:630 genetic disease ISO RGD:1313923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23993193|PMID:23993194|PMID:24033266|PMID:24088041|PMID:25741868|PMID:25868664|PMID:26633545|PMID:27099744|PMID:27290639|PMID:27743463|PMID:28492532|PMID:28940506|PMID:29565416|PMID:30771478|PMID:30804983|PMID:32576985 11811199 FBXL4 F-box and leucine rich repeat protein 4 gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1313923 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial encephalomyopathy PMID:23993194|PMID:25558065|PMID:25741868|PMID:25868664|PMID:27743463|PMID:28492532|PMID:28940506|PMID:30804983 11811224 FZD2 frizzled class receptor 2 gene DOID:0060765 autosomal dominant Robinow syndrome 2 ISO RGD:732091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 PMID:25741868|PMID:25759469|PMID:28492532|PMID:29276006|PMID:30455931 11811224 FZD2 frizzled class receptor 2 gene DOID:0060766 autosomal dominant Robinow syndrome 1 ISO RGD:732091 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 PMID:25741868|PMID:25759469|PMID:29276006|PMID:30455931 11811224 FZD2 frizzled class receptor 2 gene DOID:0060767 autosomal dominant Robinow syndrome 3 ISO RGD:732091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3 PMID:29276006 11811224 FZD2 frizzled class receptor 2 gene DOID:0080600 COVID-19 ISO RGD:732091 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11811224 FZD2 frizzled class receptor 2 gene DOID:0080845 omodysplasia 2 ISO RGD:732091 D RGD:7240710 20190315 OMIM 11811224 FZD2 frizzled class receptor 2 gene DOID:0080845 omodysplasia 2 ISO RGD:732091 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal dominant omodysplasia PMID:25741868|PMID:25759469|PMID:30455931 11811224 FZD2 frizzled class receptor 2 gene DOID:10126 keratoconus ISO RGD:732091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Keratoconus PMID:28492532 11811224 FZD2 frizzled class receptor 2 gene DOID:127 leiomyoma ISO RGD:732091 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myometrium PMID:12909487|REF_RGD_ID:2298700 11811224 FZD2 frizzled class receptor 2 gene DOID:3459 breast carcinoma ISO RGD:732091 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:15492823|REF_RGD_ID:2298699 11811224 FZD2 frizzled class receptor 2 gene DOID:5844 myocardial infarction ISO RGD:71012 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:9142123|REF_RGD_ID:4107058 11811224 FZD2 frizzled class receptor 2 gene DOID:630 genetic disease ISO RGD:732091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11811224 FZD2 frizzled class receptor 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:732091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21188121 11811224 FZD2 frizzled class receptor 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:71012 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:8762054|REF_RGD_ID:4107053 11811224 FZD2 frizzled class receptor 2 gene DOID:9007661 Dwarfism ISO RGD:732091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:28492532 11811230 TNS4 tensin 4 gene DOID:630 genetic disease ISO RGD:1605916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811247 AQP6 aquaporin 6 gene DOID:630 genetic disease ISO RGD:737143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811284 TGFBR3L transforming growth factor beta receptor 3 like gene DOID:0080490 mucolipidosis type IV ISO RGD:6770737 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11811284 TGFBR3L transforming growth factor beta receptor 3 like gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:6770737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 11811284 TGFBR3L transforming growth factor beta receptor 3 like gene DOID:630 genetic disease ISO RGD:6770737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811319 FAM98A family with sequence similarity 98 member A gene DOID:630 genetic disease ISO RGD:1603675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811331 SQLE squalene epoxidase gene DOID:10211 cholelithiasis ISO RGD:736676 D RGD:9068941 20200609 RGD PMID:14684588|REF_RGD_ID:1581398 11811331 SQLE squalene epoxidase gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:736675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11811331 SQLE squalene epoxidase gene DOID:630 genetic disease ISO RGD:736675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811331 SQLE squalene epoxidase gene DOID:9000808 Hypercholesterolemia ISO RGD:736676 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:25168180|REF_RGD_ID:13782271 11811331 SQLE squalene epoxidase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 11811331 SQLE squalene epoxidase gene DOID:9970 obesity ISO RGD:736676 D RGD:9068941 20200609 RGD PMID:15556298|REF_RGD_ID:1581399 11811352 EPOR erythropoietin receptor gene DOID:0050990 episodic ataxia type 2 ISO RGD:736105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11811352 EPOR erythropoietin receptor gene DOID:0060652 familial erythrocytosis 1 ISO RGD:736105 D RGD:7240710 20180130 OMIM 11811352 EPOR erythropoietin receptor gene DOID:0060652 familial erythrocytosis 1 ISO RGD:736105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign PMID:10498627|PMID:1653276|PMID:17488692|PMID:1954391|PMID:24115288|PMID:25741868|PMID:26010769|PMID:27993330|PMID:28492532|PMID:4052634|PMID:7795221|PMID:8093406|PMID:8174675|PMID:8506290|PMID:8608241|PMID:9292543|PMID:9394420|PMID:9488636|PMID:9649565 11811352 EPOR erythropoietin receptor gene DOID:0060652 familial erythrocytosis 1 no_association ISO RGD:736105 D RGD:9068941 20200609 RGD PMID:9394420|REF_RGD_ID:11041608 11811352 EPOR erythropoietin receptor gene DOID:0080794 childhood acute megakaryoblastic leukemia ISO RGD:736105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia without down syndrome PMID:17488692|PMID:27993330|PMID:8506290 11811352 EPOR erythropoietin receptor gene DOID:0080982 X-linked mental retardation-hypotonic facies syndrome-1 ISO RGD:736105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carpenter-Waziri syndrome PMID:25741868|PMID:28492532|PMID:8174675|PMID:9394420 11811352 EPOR erythropoietin receptor gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:736105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11811352 EPOR erythropoietin receptor gene DOID:0111254 glutaric acidemia I ISO RGD:736105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11811352 EPOR erythropoietin receptor gene DOID:10652 Alzheimer's disease ISO RGD:736105 D RGD:9068941 20200609 RGD protein:increased expression:brain, astrocyte PMID:17483696|REF_RGD_ID:10395387 11811352 EPOR erythropoietin receptor gene DOID:10763 hypertension susceptibility ISO RGD:736105 D RGD:9068941 20200609 RGD induced by erythropoietin; PMID:19458615|REF_RGD_ID:11041646 11811352 EPOR erythropoietin receptor gene DOID:10780 primary polycythemia ISO RGD:736105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial erythrocytosis 11811352 EPOR erythropoietin receptor gene DOID:13025 retinopathy of prematurity ISO RGD:2560 D RGD:9068941 20200609 RGD protein:increased expression,increased activity:retina: PMID:24630601|REF_RGD_ID:11041658 11811352 EPOR erythropoietin receptor gene DOID:13413 hepatic encephalopathy ISO RGD:2560 D RGD:9068941 20200609 RGD associated with Hypertension, Portal PMID:24382264|REF_RGD_ID:10395388 11811352 EPOR erythropoietin receptor gene DOID:1612 breast cancer ISO RGD:736105 D RGD:9068941 20200609 RGD protein:increased expression:breast: PMID:12118093|REF_RGD_ID:11041669 11811352 EPOR erythropoietin receptor gene DOID:1686 glaucoma ISO RGD:2560 D RGD:9068941 20200609 RGD protein:increased expression:retina: PMID:17554621|REF_RGD_ID:11041649 11811352 EPOR erythropoietin receptor gene DOID:1909 melanoma ISO RGD:736105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21860424 11811352 EPOR erythropoietin receptor gene DOID:2228 thrombocytosis ISO RGD:10532 D RGD:9068941 20200609 RGD PMID:8400289|REF_RGD_ID:11041647 11811352 EPOR erythropoietin receptor gene DOID:2316 brain ischemia ISO RGD:2560 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:14732457|REF_RGD_ID:11041652 11811352 EPOR erythropoietin receptor gene DOID:2355 anemia ISO RGD:10532 D RGD:9068941 20200609 RGD PMID:9808048|REF_RGD_ID:11041637 11811352 EPOR erythropoietin receptor gene DOID:2355 anemia susceptibility ISO RGD:736105 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic; PMID:23080113|REF_RGD_ID:11041607 11811352 EPOR erythropoietin receptor gene DOID:3070 high grade glioma ISO RGD:2560 D RGD:9068941 20200609 RGD PMID:21749867|REF_RGD_ID:10400910 11811352 EPOR erythropoietin receptor gene DOID:3070 high grade glioma ISO RGD:736105 D RGD:9068941 20200609 RGD PMID:21749867|REF_RGD_ID:10400910 11811352 EPOR erythropoietin receptor gene DOID:3413 alpha-mannosidosis ISO RGD:736105 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11811352 EPOR erythropoietin receptor gene DOID:4947 cholangiocarcinoma ISO RGD:2560 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:23052842|REF_RGD_ID:10400912 11811352 EPOR erythropoietin receptor gene DOID:5327 retinal detachment ISO RGD:2560 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:retina: PMID:17882708|REF_RGD_ID:11041648 11811352 EPOR erythropoietin receptor gene DOID:5844 myocardial infarction ISO RGD:2560 D RGD:9068941 20200609 RGD PMID:21415704|REF_RGD_ID:10400907 11811352 EPOR erythropoietin receptor gene DOID:630 genetic disease ISO RGD:736105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811352 EPOR erythropoietin receptor gene DOID:783 end stage renal disease ISO RGD:2560 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:27468524|REF_RGD_ID:11532749 11811352 EPOR erythropoietin receptor gene DOID:8432 polycythemia ISO RGD:736105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC PMID:10498627|PMID:1653276|PMID:17488692|PMID:1954391|PMID:24115288|PMID:25741868|PMID:26010769|PMID:27993330|PMID:28492532|PMID:4052634|PMID:7795221|PMID:8093406|PMID:8174675|PMID:8506290|PMID:8608241|PMID:9292543|PMID:9394420|PMID:9488636|PMID:9649565 11811352 EPOR erythropoietin receptor gene DOID:8997 polycythemia vera ISO RGD:736105 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood cell: PMID:9207443|REF_RGD_ID:11041603 11811352 EPOR erythropoietin receptor gene DOID:9000892 Fetal Distress ISO RGD:2560 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:22099204|REF_RGD_ID:10401064 11811352 EPOR erythropoietin receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:736105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16699298 11811352 EPOR erythropoietin receptor gene DOID:9000998 Brain Injuries ISO RGD:2560 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:18093155|REF_RGD_ID:2293059 11811352 EPOR erythropoietin receptor gene DOID:9001553 Spinal Cord Compression ISO RGD:2560 D RGD:9068941 20200609 RGD protein:increased expression:neuron, endothelium, glia: PMID:15792521|REF_RGD_ID:11041719 11811352 EPOR erythropoietin receptor gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2560 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver: PMID:25769561|REF_RGD_ID:15090809 11811352 EPOR erythropoietin receptor gene DOID:9002955 Nerve Degeneration ISO RGD:736105 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19497871 11811352 EPOR erythropoietin receptor gene DOID:9004547 Thyroid Neoplasms ISO RGD:736105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16699298 11811352 EPOR erythropoietin receptor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16699298 11811352 EPOR erythropoietin receptor gene DOID:9004756 Brain Hypoxia ISO RGD:2560 D RGD:9068941 20200609 RGD PMID:21116766|REF_RGD_ID:10400899 11811352 EPOR erythropoietin receptor gene DOID:9004756 Brain Hypoxia treatment ISO RGD:2560 D RGD:9068941 20200609 RGD associated with Brain Injuries PMID:24344874|REF_RGD_ID:10401067 11811352 EPOR erythropoietin receptor gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:2560 D RGD:9068941 20200609 RGD PMID:12118093|REF_RGD_ID:11041669 11811352 EPOR erythropoietin receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2560 D RGD:9068941 20200609 RGD mRNA:increased expression:Schwann cell: PMID:24673486|REF_RGD_ID:11041670 11811352 EPOR erythropoietin receptor gene DOID:9008939 Breast Neoplasms ISO RGD:736105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19706814 11811352 EPOR erythropoietin receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:736105 D RGD:9068941 20200609 RGD PMID:23151030|REF_RGD_ID:11041604 11811364 TIGD2 tigger transposable element derived 2 gene DOID:630 genetic disease ISO RGD:1348664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811364 TIGD2 tigger transposable element derived 2 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1348664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 11811370 KLF8 KLF transcription factor 8 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11811370 KLF8 KLF transcription factor 8 gene DOID:12849 autistic disorder ISO RGD:1348117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11811370 KLF8 KLF transcription factor 8 gene DOID:630 genetic disease ISO RGD:1348117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811397 MYH14 myosin heavy chain 14 gene DOID:0110573 autosomal dominant nonsyndromic deafness 4A ISO RGD:1315652 D RGD:7240710 20180130 OMIM 11811397 MYH14 myosin heavy chain 14 gene DOID:0110573 autosomal dominant nonsyndromic deafness 4A ISO RGD:1315652 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 4A | ClinVar Annotator: match by term: Deafness, autosomal dominant 4A PMID:15015131|PMID:15845534|PMID:16222661|PMID:23967202|PMID:24033266|PMID:24082139|PMID:25741868|PMID:26284702|PMID:26346818|PMID:26467025|PMID:27393652|PMID:28221712|PMID:28492532|PMID:30311386|PMID:30828794|PMID:31231018 11811397 MYH14 myosin heavy chain 14 gene DOID:10003 sensorineural hearing loss ISO RGD:1315652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 11811397 MYH14 myosin heavy chain 14 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1315652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868 11811397 MYH14 myosin heavy chain 14 gene DOID:630 genetic disease ISO RGD:1315652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386 11811397 MYH14 myosin heavy chain 14 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11811397 MYH14 myosin heavy chain 14 gene DOID:9002779 Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss ISO RGD:1315652 D RGD:7240710 20180130 OMIM 11811397 MYH14 myosin heavy chain 14 gene DOID:9002779 Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss ISO RGD:1315652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy, myopathy, hoarseness, and hearing loss PMID:21480433|PMID:23806086|PMID:24033266|PMID:24088041|PMID:25741868|PMID:26257172|PMID:26346818|PMID:26752647|PMID:27393652|PMID:27911912|PMID:28492532|PMID:30311386|PMID:31231018|PMID:35274842 11811397 MYH14 myosin heavy chain 14 gene DOID:9004538 Hearing Loss ISO RGD:1315652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss PMID:24033266|PMID:25741868|PMID:27393652|PMID:28492532|PMID:30311386 11811397 MYH14 myosin heavy chain 14 gene DOID:9004538 Hearing Loss ISO RGD:1315652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:25741868|PMID:27393652|PMID:28492532|PMID:29293505|PMID:30311386 11811397 MYH14 myosin heavy chain 14 gene DOID:9005230 Autosomal Dominant Deafness 4 ISO RGD:1315652 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 4 PMID:15015131|PMID:15845534|PMID:16222661|PMID:23967202|PMID:24033266|PMID:24082139|PMID:25741868|PMID:26284702|PMID:26346818|PMID:26467025|PMID:27393652|PMID:28221712|PMID:28492532|PMID:30311386|PMID:30828794|PMID:31231018 11811397 MYH14 myosin heavy chain 14 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1315652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:28492532 11811444 TOPBP1 DNA topoisomerase II binding protein 1 gene DOID:630 genetic disease ISO RGD:1321299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811444 TOPBP1 DNA topoisomerase II binding protein 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1321299 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25741868 11811444 TOPBP1 DNA topoisomerase II binding protein 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1321299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18006695 11811444 TOPBP1 DNA topoisomerase II binding protein 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1321299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 11811444 TOPBP1 DNA topoisomerase II binding protein 1 gene DOID:9270 alkaptonuria ISO RGD:1321299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11811483 DENND11 DENN domain containing 11 gene DOID:0080690 RASopathy ISO RGD:1603618 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 11811483 DENND11 DENN domain containing 11 gene DOID:630 genetic disease ISO RGD:1603618 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811496 COPZ1 COPI coat complex subunit zeta 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11811509 ZNF485 zinc finger protein 485 gene DOID:630 genetic disease ISO RGD:1349192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811521 DOC2A double C2 domain alpha gene DOID:0060019 coronin-1A deficiency ISO RGD:731423 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11811521 DOC2A double C2 domain alpha gene DOID:0060041 autism spectrum disorder ISO RGD:731423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 11811521 DOC2A double C2 domain alpha gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:731423 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 11811521 DOC2A double C2 domain alpha gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:731423 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 11811521 DOC2A double C2 domain alpha gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:731423 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11811521 DOC2A double C2 domain alpha gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:731423 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 11811521 DOC2A double C2 domain alpha gene DOID:12849 autistic disorder ISO RGD:731423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11811521 DOC2A double C2 domain alpha gene DOID:1882 atrial heart septal defect ISO RGD:731423 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 11811521 DOC2A double C2 domain alpha gene DOID:5419 schizophrenia ISO RGD:731423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11811521 DOC2A double C2 domain alpha gene DOID:630 genetic disease ISO RGD:731423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811521 DOC2A double C2 domain alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11811521 DOC2A double C2 domain alpha gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:731423 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11811521 DOC2A double C2 domain alpha gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:731423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 11811550 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy ISO RGD:1318489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy PMID:25741868 11811550 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:0080001 bone disease ISO RGD:1318489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25004007 11811550 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318489 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11811550 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:0080445 developmental and epileptic encephalopathy 13 ISO RGD:1318489 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 PMID:20554659|PMID:28492532 11811550 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1318489 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 11811550 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:1318489 D RGD:7240710 20180130 OMIM 11811550 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:1318489 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy | ClinVar Annotator: match by term: Vitamin B6-dependent seizures PMID:16159904|PMID:16199547|PMID:16491085|PMID:17068770|PMID:17088338|PMID:17433748|PMID:17576681|PMID:17721876|PMID:18414213|PMID:18717709|PMID:19128417|PMID:19142996|PMID:19294602|PMID:20207735|PMID:20301659|PMID:20370816|PMID:20554659|PMID:20814824|PMID:21733724|PMID:22305855|PMID:22371912|PMID:22529283|PMID:22728861|PMID:22784480|PMID:23022070|PMID:23054014|PMID:23350806|PMID:23430810|PMID:23683770|PMID:23916709|PMID:23925287|PMID:23953072|PMID:24033266|PMID:24122892|PMID:24184718|PMID:24613284|PMID:24664088|PMID:24664145|PMID:24748525|PMID:24789515|PMID:24848745|PMID:24942048|PMID:25123644|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26026794|PMID:26101365|PMID:26224730|PMID:26232297|PMID:26467025|PMID:26891797|PMID:26995068|PMID:27186704|PMID:27324284|PMID:27438048|PMID:28087462|PMID:28131559|PMID:28492532|PMID:28962114|PMID:29045138|PMID:29056246|PMID:29286531|PMID:29655203|PMID:29720203|PMID:29852413|PMID:30043187|PMID:31302938|PMID:31564432|PMID:31737911|PMID:31965297|PMID:32685344|PMID:33822359|PMID:33868381|PMID:9536098 11811550 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:1059 intellectual disability ISO RGD:1318489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11811550 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:11832 visual epilepsy ISO RGD:1318489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure PMID:16159904|PMID:16491085|PMID:17068770|PMID:17088338|PMID:17576681|PMID:17721876|PMID:18717709|PMID:19128417|PMID:20301659|PMID:20370816|PMID:22371912|PMID:22784480|PMID:23022070|PMID:23054014|PMID:23350806|PMID:23430810|PMID:24033266|PMID:25326637|PMID:25741868|PMID:26101365|PMID:26224730|PMID:26232297|PMID:26467025|PMID:28492532|PMID:29056246|PMID:30043187|PMID:9536098 11811550 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:12270 coloboma ISO RGD:1318489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25004007 11811550 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:14264 benign neonatal seizures ISO RGD:1318489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: neonatal seizures PMID:16199547|PMID:16491085|PMID:20554659|PMID:21733724|PMID:25741868|PMID:28492532 11811550 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:1826 epilepsy ISO RGD:1318489 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Intractable seizure | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:16159904|PMID:16491085|PMID:17068770|PMID:17088338|PMID:17721876|PMID:18717709|PMID:19128417|PMID:20301659|PMID:20370816|PMID:20554659|PMID:22371912|PMID:22784480|PMID:23022070|PMID:23054014|PMID:23430810|PMID:24033266|PMID:25326637|PMID:25741868|PMID:26101365|PMID:26224730|PMID:26232297|PMID:26467025|PMID:28492532|PMID:29056246|PMID:30043187 11811550 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:1826 epilepsy ISO RGD:1318489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intractable seizure | ClinVar Annotator: match by term: Seizure PMID:16159904|PMID:16491085|PMID:17068770|PMID:17088338|PMID:17576681|PMID:17721876|PMID:18717709|PMID:19128417|PMID:20301659|PMID:20370816|PMID:20554659|PMID:22371912|PMID:22784480|PMID:23022070|PMID:23054014|PMID:23350806|PMID:23430810|PMID:24033266|PMID:25326637|PMID:25741868|PMID:26101365|PMID:26224730|PMID:26232297|PMID:28492532|PMID:29056246|PMID:30043187|PMID:31564432|PMID:9536098 11811550 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:630 genetic disease ISO RGD:1318489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10971205|PMID:16199547|PMID:16491085|PMID:17433748|PMID:17576681|PMID:17721876|PMID:18717709|PMID:19128417|PMID:19142996|PMID:20207735|PMID:20301659|PMID:20554659|PMID:20814824|PMID:22371912|PMID:22529283|PMID:23022070|PMID:23350806|PMID:23430810|PMID:24122892|PMID:24664088|PMID:24748525|PMID:24848745|PMID:24942048|PMID:25741868|PMID:26026794|PMID:26101365|PMID:26232297|PMID:26467025|PMID:26995068|PMID:27324284|PMID:27438048|PMID:28087462|PMID:28492532|PMID:29286531|PMID:30043187|PMID:31564432|PMID:31737911|PMID:33868381|PMID:9536098 11811550 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1318489 D RGD:9068941 20220616 RGD mRNA:altered expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 11811550 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1318489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11811550 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:9000918 Disease Progression ISO RGD:1318489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11811550 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:9002704 Leukoencephalopathies ISO RGD:1318489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy PMID:28492532 11811550 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11811550 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:9006534 Nervous System Malformations ISO RGD:1318489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16491085|PMID:25741868|PMID:27186704|PMID:28492532 11811550 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318489 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11811579 QSOX1 quiescin sulfhydryl oxidase 1 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:69035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 11811579 QSOX1 quiescin sulfhydryl oxidase 1 gene DOID:14679 VACTERL association ISO RGD:69036 D RGD:9068941 20220825 MouseDO OMIM:192350 | OMIM:276950 11811579 QSOX1 quiescin sulfhydryl oxidase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:69035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11811579 QSOX1 quiescin sulfhydryl oxidase 1 gene DOID:303 substance-related disorder ISO RGD:69035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11811579 QSOX1 quiescin sulfhydryl oxidase 1 gene DOID:630 genetic disease ISO RGD:69035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811579 QSOX1 quiescin sulfhydryl oxidase 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:69035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11811579 QSOX1 quiescin sulfhydryl oxidase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:69035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11811603 C8B complement C8 beta chain gene DOID:0060299 complement component 6 deficiency ISO RGD:1352674 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Complement component 6 deficiency PMID:14767900|PMID:19434484|PMID:24033266|PMID:25525159|PMID:25741868|PMID:27183977|PMID:28368462|PMID:28492532|PMID:30609409|PMID:31980526|PMID:7594510|PMID:8098723|PMID:8365729 11811603 C8B complement C8 beta chain gene DOID:0060302 type II complement component 8 deficiency ISO RGD:1352674 D RGD:7240710 20180130 OMIM 11811603 C8B complement C8 beta chain gene DOID:0060302 type II complement component 8 deficiency ISO RGD:1352674 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Type II complement component 8 deficiency PMID:14767900|PMID:19434484|PMID:24033266|PMID:25525159|PMID:25741868|PMID:27183977|PMID:28368462|PMID:28492532|PMID:30609409|PMID:31440263|PMID:31980526|PMID:7594510|PMID:8098723|PMID:8365729 11811603 C8B complement C8 beta chain gene DOID:5844 myocardial infarction ISO RGD:2239 D RGD:9068941 20200609 RGD PMID:7515561|REF_RGD_ID:1600501 11811603 C8B complement C8 beta chain gene DOID:612 primary immunodeficiency disease ISO RGD:1352674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8098723 11811603 C8B complement C8 beta chain gene DOID:630 genetic disease ISO RGD:1352674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11811603 C8B complement C8 beta chain gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1352674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7980680 11811603 C8B complement C8 beta chain gene DOID:9008538 Neisseriaceae Infections ISO RGD:1352674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8098723 11811603 C8B complement C8 beta chain gene DOID:9471 meningitis ISO RGD:1352674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8098723 11811619 STARD3 StAR related lipid transfer domain containing 3 gene DOID:630 genetic disease ISO RGD:1347857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811619 STARD3 StAR related lipid transfer domain containing 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347857 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881|PMID:17592021 11811660 LOC100978244 olfactory receptor 7A5 gene DOID:630 genetic disease ISO RGD:1353918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811665 ZNF232 zinc finger protein 232 gene DOID:630 genetic disease ISO RGD:1351576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811688 DEFA6 defensin alpha 6 gene DOID:630 genetic disease ISO RGD:1343817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811688 DEFA6 defensin alpha 6 gene DOID:8577 ulcerative colitis ISO RGD:1343817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20452301 11811694 GTPBP1 GTP binding protein 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1315559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11811694 GTPBP1 GTP binding protein 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1315559 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11811694 GTPBP1 GTP binding protein 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1315559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11811694 GTPBP1 GTP binding protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1315559 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:17576681|PMID:28492532|PMID:9536098 11811694 GTPBP1 GTP binding protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1315559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:17576681|PMID:18570303|PMID:18799783|PMID:22213678|PMID:25210889|PMID:28492532|PMID:9536098 11811694 GTPBP1 GTP binding protein 1 gene DOID:630 genetic disease ISO RGD:1315559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11811711 LTB4R leukotriene B4 receptor gene DOID:0060439 lysinuric protein intolerance ISO RGD:1348020 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11811711 LTB4R leukotriene B4 receptor gene DOID:10754 otitis media ISO RGD:8702169 D RGD:9068941 20200609 RGD PMID:20433028|REF_RGD_ID:11553910 11811711 LTB4R leukotriene B4 receptor gene DOID:11664 nephrosclerosis ISO RGD:1550123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 11811711 LTB4R leukotriene B4 receptor gene DOID:2349 arteriosclerosis ISO RGD:1550123 D RGD:9068941 20200609 RGD PMID:16043658|REF_RGD_ID:1581956 11811711 LTB4R leukotriene B4 receptor gene DOID:3407 carotid artery disease ISO RGD:620410 D RGD:9068941 20200609 RGD PMID:16293697|REF_RGD_ID:1581954 11811711 LTB4R leukotriene B4 receptor gene DOID:409 liver disease ISO RGD:1348020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11811711 LTB4R leukotriene B4 receptor gene DOID:630 genetic disease ISO RGD:1348020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811711 LTB4R leukotriene B4 receptor gene DOID:9000265 Specific Granule Deficiency ISO RGD:1348020 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11811711 LTB4R leukotriene B4 receptor gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1348020 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11811711 LTB4R leukotriene B4 receptor gene DOID:9005372 Inflammation ISO RGD:1348020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10934231 11811711 LTB4R leukotriene B4 receptor gene DOID:9007278 Anaphylaxis ISO RGD:1348020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10934231 11811711 LTB4R leukotriene B4 receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1550123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28487374 11811711 LTB4R leukotriene B4 receptor gene DOID:9008114 Helicobacter Infections treatment ISO RGD:1348020 D RGD:9068941 20210108 RGD PMID:18571838|REF_RGD_ID:40903061 11811724 FOXJ1 forkhead box J1 gene DOID:0050144 Kartagener syndrome ISO RGD:732359 D RGD:9068941 20220825 MouseDO 11811724 FOXJ1 forkhead box J1 gene DOID:0111856 primary ciliary dyskinesia 43 ISO RGD:732358 D RGD:7240710 20200101 OMIM 11811724 FOXJ1 forkhead box J1 gene DOID:0111856 primary ciliary dyskinesia 43 ISO RGD:732358 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 43 PMID:25741868|PMID:31630787|PMID:33077954 11811724 FOXJ1 forkhead box J1 gene DOID:630 genetic disease ISO RGD:732358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811724 FOXJ1 forkhead box J1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:732359 D RGD:9068941 20220825 MouseDO 11811731 OARD1 O-acyl-ADP-ribose deacylase 1 gene DOID:630 genetic disease ISO RGD:1317992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811746 SQSTM1 sequestosome 1 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:736484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:11473345|PMID:11992264|PMID:12374763|PMID:14584883|PMID:15125799|PMID:15146436|PMID:15176995|PMID:15493999|PMID:15647816|PMID:15765181|PMID:16199547|PMID:16691492|PMID:16813535|PMID:17120186|PMID:17129171|PMID:17181397|PMID:17188686|PMID:17229007|PMID:17229008|PMID:17576681|PMID:18543015|PMID:18765443|PMID:19049332|PMID:19257822|PMID:19589897|PMID:20200946|PMID:20499339|PMID:21073987|PMID:21195346|PMID:21515589|PMID:21878516|PMID:22084127|PMID:22491873|PMID:22972638|PMID:23117207|PMID:23303844|PMID:23417734|PMID:23447461|PMID:23612225|PMID:23812289|PMID:23820649|PMID:23942205|PMID:24033266|PMID:24042580|PMID:24486447|PMID:24642144|PMID:24899140|PMID:25241215|PMID:25382069|PMID:25433461|PMID:25512523|PMID:25664955|PMID:25681989|PMID:25708934|PMID:25741868|PMID:25796131|PMID:25852467|PMID:26208961|PMID:26412716|PMID:26467025|PMID:26601740|PMID:26627873|PMID:26713335|PMID:26836416|PMID:26925868|PMID:27158844|PMID:27163810|PMID:27275741|PMID:27545679|PMID:27554286|PMID:27594680|PMID:27631370|PMID:28003435|PMID:28430856|PMID:28492532|PMID:28642336|PMID:28709720|PMID:29411640|PMID:29457785|PMID:29525180|PMID:29599744|PMID:29895397|PMID:29959261|PMID:30120248|PMID:30154079|PMID:30638816|PMID:30679323|PMID:30842500|PMID:31434890|PMID:31859009|PMID:31914217|PMID:31996268|PMID:32028661|PMID:32385536|PMID:32579787|PMID:33973882|PMID:34020145|PMID:34307757|PMID:9536098 11811746 SQSTM1 sequestosome 1 gene DOID:0080718 GNE myopathy ISO RGD:736484 D RGD:7240710 20190315 OMIM 11811746 SQSTM1 sequestosome 1 gene DOID:0080718 GNE myopathy ISO RGD:736484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with rimmed vacuoles PMID:12374763|PMID:17129171|PMID:23417734|PMID:25741868|PMID:26208961|PMID:26467025|PMID:26627873|PMID:28492532 11811746 SQSTM1 sequestosome 1 gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:736484 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:22972638|PMID:23417734|PMID:23942205|PMID:25741868|PMID:25796131|PMID:28492532|PMID:29895397|PMID:31859009 11811746 SQSTM1 sequestosome 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:736484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11811746 SQSTM1 sequestosome 1 gene DOID:0110068 frontotemporal dementia and/or amyotrophic lateral sclerosis-3 ISO RGD:736484 D RGD:7240710 20180130 OMIM 11811746 SQSTM1 sequestosome 1 gene DOID:0110068 frontotemporal dementia and/or amyotrophic lateral sclerosis-3 ISO RGD:736484 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: FTDALS3 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 PMID:11473345|PMID:11992264|PMID:14584883|PMID:15125799|PMID:15176995|PMID:15493999|PMID:15647816|PMID:15765181|PMID:16691492|PMID:16813535|PMID:17181397|PMID:17229007|PMID:17229008|PMID:18543015|PMID:18765443|PMID:19257822|PMID:19589897|PMID:20200946|PMID:20499339|PMID:21195346|PMID:21515589|PMID:21878516|PMID:22084127|PMID:22972638|PMID:23417734|PMID:23942205|PMID:24033266|PMID:24042580|PMID:24486447|PMID:24899140|PMID:25241215|PMID:25741868|PMID:25796131|PMID:26412716|PMID:26467025|PMID:26627873|PMID:26713335|PMID:27275741|PMID:27594680|PMID:28003435|PMID:28430856|PMID:28492532|PMID:29457785|PMID:29525180|PMID:29599744|PMID:30154079|PMID:30842500 11811746 SQSTM1 sequestosome 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:736484 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11811746 SQSTM1 sequestosome 1 gene DOID:10763 hypertension ISO RGD:69287 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:23499735|REF_RGD_ID:11561939 11811746 SQSTM1 sequestosome 1 gene DOID:1686 glaucoma ISO RGD:69287 D RGD:9068941 20200609 RGD protein:increased expression:optic nerve PMID:24136224|REF_RGD_ID:13782046 11811746 SQSTM1 sequestosome 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease PMID:11473345|PMID:11992264|PMID:15125799|PMID:15176995|PMID:15493999|PMID:15647816|PMID:15765181|PMID:16813535|PMID:17229007|PMID:18543015|PMID:18765443|PMID:19257822|PMID:19589897|PMID:20499339|PMID:21195346|PMID:21515589|PMID:21878516|PMID:22084127|PMID:23417734|PMID:23942205|PMID:24033266|PMID:24042580|PMID:24899140|PMID:25241215|PMID:25741868|PMID:26627873|PMID:26713335|PMID:27275741|PMID:27594680|PMID:28430856|PMID:28492532|PMID:29457785|PMID:29599744|PMID:30154079|PMID:32579787 11811746 SQSTM1 sequestosome 1 gene DOID:4448 macular degeneration ISO RGD:736484 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23922739 11811746 SQSTM1 sequestosome 1 gene DOID:5408 Paget's disease of bone ISO RGD:736484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bone Paget disease | ClinVar Annotator: match by term: Paget disease of bone, familial PMID:11473345|PMID:11992264|PMID:15125799|PMID:15176995|PMID:15493999|PMID:15647816|PMID:15765181|PMID:16813535|PMID:17229007|PMID:18543015|PMID:18765443|PMID:19257822|PMID:19589897|PMID:20499339|PMID:21195346|PMID:21515589|PMID:21878516|PMID:22084127|PMID:23417734|PMID:23942205|PMID:24033266|PMID:24042580|PMID:24899140|PMID:25241215|PMID:25741868|PMID:26627873|PMID:26713335|PMID:27275741|PMID:27594680|PMID:28430856|PMID:28492532|PMID:29457785|PMID:29599744|PMID:30154079 11811746 SQSTM1 sequestosome 1 gene DOID:630 genetic disease ISO RGD:736484 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17129171|PMID:17188686|PMID:19049332|PMID:22084127|PMID:23812289|PMID:24042580|PMID:24486447|PMID:24899140|PMID:25741868|PMID:26467025|PMID:26601740|PMID:28492532|PMID:31434890 11811746 SQSTM1 sequestosome 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:736484 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 11811746 SQSTM1 sequestosome 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:69287 D RGD:9068941 20200609 RGD protein:decreased expression:basal ganglion PMID:23884876|REF_RGD_ID:11561935 11811746 SQSTM1 sequestosome 1 gene DOID:9003060 Paget Disease of Bone 2, Early-Onset ISO RGD:736484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paget disease of bone 2, early-onset PMID:11473345|PMID:11992264|PMID:15125799|PMID:15176995|PMID:15493999|PMID:15647816|PMID:15765181|PMID:16813535|PMID:17229007|PMID:18543015|PMID:18765443|PMID:19257822|PMID:19589897|PMID:20499339|PMID:21195346|PMID:21515589|PMID:21878516|PMID:22084127|PMID:23417734|PMID:23942205|PMID:24033266|PMID:24042580|PMID:24899140|PMID:25241215|PMID:25681989|PMID:25741868|PMID:25796131|PMID:26467025|PMID:26627873|PMID:26713335|PMID:27275741|PMID:27594680|PMID:28430856|PMID:28492532|PMID:29457785|PMID:29599744|PMID:30154079|PMID:30679323 11811746 SQSTM1 sequestosome 1 gene DOID:9005240 Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy ISO RGD:736484 D RGD:7240710 20190315 OMIM 11811746 SQSTM1 sequestosome 1 gene DOID:9005240 Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy ISO RGD:736484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset PMID:15146436|PMID:21073987|PMID:22491873|PMID:23117207|PMID:25741868|PMID:26467025|PMID:27545679|PMID:28492532|PMID:29959261 11811746 SQSTM1 sequestosome 1 gene DOID:9005587 Starvation ISO RGD:736484 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26483381 11811746 SQSTM1 sequestosome 1 gene DOID:9007946 Paget Disease of Bone 3 ISO RGD:736484 D RGD:7240710 20190327 OMIM 11811746 SQSTM1 sequestosome 1 gene DOID:9007946 Paget Disease of Bone 3 ISO RGD:736484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paget disease of bone 3 PMID:11473345|PMID:11992264|PMID:12374763|PMID:15125799|PMID:15176995|PMID:15493999|PMID:15647816|PMID:15765181|PMID:16813535|PMID:17129171|PMID:17188686|PMID:17229007|PMID:18543015|PMID:18765443|PMID:19257822|PMID:19589897|PMID:20499339|PMID:21073987|PMID:21195346|PMID:21515589|PMID:21878516|PMID:22084127|PMID:22972638|PMID:23303844|PMID:23417734|PMID:23447461|PMID:23612225|PMID:23812289|PMID:23820649|PMID:23942205|PMID:24033266|PMID:24042580|PMID:24486447|PMID:24899140|PMID:25241215|PMID:25382069|PMID:25433461|PMID:25512523|PMID:25681989|PMID:25741868|PMID:25796131|PMID:25852467|PMID:26208961|PMID:26467025|PMID:26627873|PMID:26713335|PMID:26836416|PMID:27163810|PMID:27275741|PMID:27545679|PMID:27594680|PMID:28430856|PMID:28492532|PMID:29457785|PMID:29599744|PMID:29959261|PMID:30154079|PMID:30679323|PMID:31859009|PMID:32385536 11811746 SQSTM1 sequestosome 1 gene DOID:9923 developmental coordination disorder ISO RGD:736484 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:32773031 11811777 LOC100982464 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 gene DOID:0050722 PHGDH deficiency ISO RGD:1318588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:14645240|PMID:24836451|PMID:28492532 11811777 LOC100982464 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:1318588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia PMID:10599696|PMID:10651755|PMID:10656999|PMID:10770215|PMID:10973654|PMID:11196452|PMID:12050213|PMID:12050224|PMID:15585552|PMID:18252794|PMID:21340167|PMID:22579964|PMID:24033266|PMID:25211449|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30029738|PMID:30668521|PMID:30719691|PMID:31006099|PMID:31533357|PMID:31950145|PMID:34055358|PMID:34628416|PMID:7633460|PMID:7651769|PMID:8004103|PMID:8060486 11811777 LOC100982464 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 gene DOID:10652 Alzheimer's disease ISO RGD:1318588 D RGD:9068941 20200609 RGD mRNA:altered expression:cerebellum, hippocampus (human) PMID:18180323|REF_RGD_ID:4889108 11811777 LOC100982464 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 gene DOID:10763 hypertension ISO RGD:67377 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus (rat) PMID:16116051|REF_RGD_ID:1599701 11811777 LOC100982464 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 gene DOID:10892 hypospadias ISO RGD:1318588 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14764821 11811777 LOC100982464 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 gene DOID:10892 hypospadias ISO RGD:1318588 D RGD:9068941 20200609 RGD DNA:point mutation:CDS:heterozygous S213T or S284R, result in decreased enzyme activity PMID:14764821|REF_RGD_ID:1625114 11811777 LOC100982464 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 gene DOID:11383 cryptorchidism ISO RGD:1318588 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26050606 11811777 LOC100982464 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1318588 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22381227 11811777 LOC100982464 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1318588 D RGD:9068941 20200609 RGD protein:increased activity:ovary follicle, theca cell (human) PMID:11739466|REF_RGD_ID:4888511 11811777 LOC100982464 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 gene DOID:12700 hyperprolactinemia ISO RGD:67377 D RGD:9068941 20200609 RGD mRNA:increased expression:skin (rat) PMID:8027581|REF_RGD_ID:4889559 11811777 LOC100982464 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:1318588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 11811777 LOC100982464 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 gene DOID:3070 high grade glioma ISO RGD:1318588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11811777 LOC100982464 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 gene DOID:630 genetic disease ISO RGD:1318588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811777 LOC100982464 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1318588 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 11811777 LOC100982464 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 gene DOID:9000779 Hypospadias 1, X-Linked ISO RGD:1318588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypospadias 1, X-linked 11811777 LOC100982464 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318588 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17823934 11811777 LOC100982464 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 gene DOID:9004890 Paranoid Disorders ISO RGD:1318588 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22356824 11811777 LOC100982464 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 gene DOID:9005105 Adrenal Hyperplasia 2 ISO RGD:1318588 D RGD:7240710 20180130 OMIM 11811777 LOC100982464 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 gene DOID:9005105 Adrenal Hyperplasia 2 ISO RGD:1318588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3 beta-Hydroxysteroid dehydrogenase deficiency PMID:10486704|PMID:10599696|PMID:10651755|PMID:10656999|PMID:10770215|PMID:10843183|PMID:10973654|PMID:11196452|PMID:11287026|PMID:1196451|PMID:12050213|PMID:12050224|PMID:1363812|PMID:14966389|PMID:16648810|PMID:17689071|PMID:1825279|PMID:18252794|PMID:22343390|PMID:22579964|PMID:24033266|PMID:25741868|PMID:26021573|PMID:26288759|PMID:26467025|PMID:2755580|PMID:27626911|PMID:27796263|PMID:27899157|PMID:28207417|PMID:28492532|PMID:28870780|PMID:295036|PMID:30029738|PMID:30668521|PMID:30719691|PMID:31006099|PMID:31533357|PMID:31611844|PMID:31950145|PMID:34055358|PMID:4539073|PMID:7633460|PMID:8060486|PMID:8185809|PMID:8316254|PMID:9719627 11811792 LOXL3 lysyl oxidase like 3 gene DOID:0070000 3-methylglutaconic aciduria type 8 ISO RGD:1322239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 8 PMID:17576681|PMID:27208207|PMID:28492532|PMID:9536098 11811792 LOXL3 lysyl oxidase like 3 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1322239 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11811792 LOXL3 lysyl oxidase like 3 gene DOID:0080046 Stickler syndrome ISO RGD:1322239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stickler syndrome PMID:25741868|PMID:28492532|PMID:32531858 11811792 LOXL3 lysyl oxidase like 3 gene DOID:543 dystonia ISO RGD:1322239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11811792 LOXL3 lysyl oxidase like 3 gene DOID:630 genetic disease ISO RGD:1322239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11811792 LOXL3 lysyl oxidase like 3 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1322239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11811792 LOXL3 lysyl oxidase like 3 gene DOID:9002859 Parkinson's Disease 13 ISO RGD:1322239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease 13, autosomal dominant, susceptibility to PMID:15961413|PMID:18364387|PMID:18790661|PMID:19118185|PMID:21163861|PMID:25422467|PMID:25741868|PMID:28492532 11811792 LOXL3 lysyl oxidase like 3 gene DOID:9004584 Myopia 28 ISO RGD:1322239 D RGD:7240710 20220316 OMIM 11811792 LOXL3 lysyl oxidase like 3 gene DOID:9004584 Myopia 28 ISO RGD:1322239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia 28, autosomal recessive PMID:26957899|PMID:28492532|PMID:33456446 11811838 LY6K lymphocyte antigen 6 family member K gene DOID:630 genetic disease ISO RGD:1345514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811850 LINC02908 long intergenic non-protein coding RNA 2908 gene DOID:0050777 Joubert syndrome ISO RGD:1603806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11811850 LINC02908 long intergenic non-protein coding RNA 2908 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1603806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11811850 LINC02908 long intergenic non-protein coding RNA 2908 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1603806 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11811850 LINC02908 long intergenic non-protein coding RNA 2908 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1603806 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11811850 LINC02908 long intergenic non-protein coding RNA 2908 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1603806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11811850 LINC02908 long intergenic non-protein coding RNA 2908 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1603806 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11811850 LINC02908 long intergenic non-protein coding RNA 2908 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1603806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 11811850 LINC02908 long intergenic non-protein coding RNA 2908 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1603806 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11811850 LINC02908 long intergenic non-protein coding RNA 2908 gene DOID:0081097 Rafiq syndrome ISO RGD:1603806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11811850 LINC02908 long intergenic non-protein coding RNA 2908 gene DOID:1826 epilepsy ISO RGD:1603806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11811850 LINC02908 long intergenic non-protein coding RNA 2908 gene DOID:3652 Leigh disease ISO RGD:1603806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11811850 LINC02908 long intergenic non-protein coding RNA 2908 gene DOID:630 genetic disease ISO RGD:1603806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811850 LINC02908 long intergenic non-protein coding RNA 2908 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1603806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11811856 KBTBD4 kelch repeat and BTB domain containing 4 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1321017 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11811856 KBTBD4 kelch repeat and BTB domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1321017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11811856 KBTBD4 kelch repeat and BTB domain containing 4 gene DOID:630 genetic disease ISO RGD:1321017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811865 ACTR1A actin related protein 1A gene DOID:14250 Down syndrome ISO RGD:1315973 D RGD:9068941 20200609 RGD protein:decreased expression:cortex PMID:11829462|REF_RGD_ID:13831340 11811865 ACTR1A actin related protein 1A gene DOID:219 colon cancer ISO RGD:1315973 D RGD:9068941 20200609 RGD PMID:26422100|REF_RGD_ID:13831341 11811865 ACTR1A actin related protein 1A gene DOID:630 genetic disease ISO RGD:1315973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811886 ELP3 elongator acetyltransferase complex subunit 3 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1316051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11811886 ELP3 elongator acetyltransferase complex subunit 3 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1316051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11811886 ELP3 elongator acetyltransferase complex subunit 3 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1316051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 11811886 ELP3 elongator acetyltransferase complex subunit 3 gene DOID:630 genetic disease ISO RGD:1316051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811886 ELP3 elongator acetyltransferase complex subunit 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1316051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 11811886 ELP3 elongator acetyltransferase complex subunit 3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1316051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 11811886 ELP3 elongator acetyltransferase complex subunit 3 gene DOID:9006205 Animal Disease Models ISO RGD:1316051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 11811886 ELP3 elongator acetyltransferase complex subunit 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1316051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 11811911 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:0050460 Wolf-Hirschhorn syndrome ISO RGD:1317446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome 11811911 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:0050610 oral cavity carcinoma in situ disease_progression ISO RGD:1317446 D RGD:9068941 20200609 RGD PMID:27499128|REF_RGD_ID:28867233 11811911 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:0080600 COVID-19 ISO RGD:1317446 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11811911 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:0080909 castration-resistant prostate carcinoma treatment ISO RGD:1317446 D RGD:9068941 20200609 RGD PMID:28498618|REF_RGD_ID:28867238 11811911 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:10534 stomach cancer ISO RGD:1317446 D RGD:9068941 20200609 RGD PMID:19081476|REF_RGD_ID:28867243 11811911 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:10534 stomach cancer ISO RGD:1317446 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach PMID:19878654|REF_RGD_ID:28867241 11811911 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:1540 parathyroid carcinoma ISO RGD:1317446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11811911 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:1612 breast cancer disease_progression ISO RGD:1317446 D RGD:9068941 20200609 RGD PMID:31140425|PMID:31198978|REF_RGD_ID:28867230|REF_RGD_ID:28867231 11811911 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:1793 pancreatic cancer ISO RGD:1317446 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:26045769|REF_RGD_ID:11058437 11811911 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:1793 pancreatic cancer treatment ISO RGD:1317446 D RGD:9068941 20200609 RGD PMID:25370920|REF_RGD_ID:28867232 11811911 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:1909 melanoma disease_progression ISO RGD:1317446 D RGD:9068941 20200609 RGD PMID:27237743|REF_RGD_ID:28867234 11811911 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1317446 D RGD:9068941 20200609 RGD PMID:17079454|REF_RGD_ID:28867236 11811911 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1317446 D RGD:9068941 20200611 RGD PMID:32226507|REF_RGD_ID:28912743 11811911 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:630 genetic disease ISO RGD:1317446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811911 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:684 hepatocellular carcinoma ISO RGD:1317446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11811911 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1317446 D RGD:9068941 20200611 RGD PMID:31933938|REF_RGD_ID:28912742 11811911 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1317446 D RGD:9068941 20200609 RGD PMID:30653265|REF_RGD_ID:28867240 11811911 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:9001308 Wittwer Syndrome ISO RGD:1317446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Wittwer syndrome 11811911 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:9007661 Dwarfism ISO RGD:1317446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:33721060 11811911 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11811911 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:9256 colorectal cancer ISO RGD:1317446 D RGD:9068941 20200609 RGD mRNA:increased expression:colorectum PMID:19878654|REF_RGD_ID:28867241 11811911 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:9256 colorectal cancer disease_progression ISO RGD:1317446 D RGD:9068941 20200609 RGD PMID:24247253|REF_RGD_ID:28867244 11811932 ZNF292 zinc finger protein 292 gene DOID:1059 intellectual disability ISO RGD:1354082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25363760|PMID:25741868|PMID:28492532|PMID:31723249 11811932 ZNF292 zinc finger protein 292 gene DOID:1826 epilepsy ISO RGD:1354082 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11811932 ZNF292 zinc finger protein 292 gene DOID:630 genetic disease ISO RGD:1354082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:31723249 11811932 ZNF292 zinc finger protein 292 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475|PMID:29662167 11811932 ZNF292 zinc finger protein 292 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: ZNF292-related neurodevelopmental condition PMID:25363760|PMID:25741868|PMID:27824329|PMID:28492532|PMID:30564305|PMID:31723249 11811932 ZNF292 zinc finger protein 292 gene DOID:9005687 Autosomal Dominant Intellectual Developmental Disorder 64 ISO RGD:1354082 D RGD:7240710 20210303 OMIM 11811932 ZNF292 zinc finger protein 292 gene DOID:9005687 Autosomal Dominant Intellectual Developmental Disorder 64 ISO RGD:1354082 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 64 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 64 PMID:25363760|PMID:25741868|PMID:27824329|PMID:28492532|PMID:28808027|PMID:30564305|PMID:31723249 11811932 ZNF292 zinc finger protein 292 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1354082 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:25741868 11811932 ZNF292 zinc finger protein 292 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1354082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25559195 11811932 ZNF292 zinc finger protein 292 gene DOID:9009213 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES ISO RGD:1354082 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities PMID:25741868 11811945 SLC25A5 solute carrier family 25 member 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11811945 SLC25A5 solute carrier family 25 member 5 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:732042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 11811945 SLC25A5 solute carrier family 25 member 5 gene DOID:12849 autistic disorder ISO RGD:732042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11811945 SLC25A5 solute carrier family 25 member 5 gene DOID:1324 lung cancer ISO RGD:732042 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 11811945 SLC25A5 solute carrier family 25 member 5 gene DOID:5409 lung small cell carcinoma ISO RGD:732042 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 11811945 SLC25A5 solute carrier family 25 member 5 gene DOID:630 genetic disease ISO RGD:732042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811957 SLC2A5 solute carrier family 2 member 5 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:68456 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11811957 SLC2A5 solute carrier family 2 member 5 gene DOID:2843 long QT syndrome ISO RGD:68456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11811957 SLC2A5 solute carrier family 2 member 5 gene DOID:630 genetic disease ISO RGD:68456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11811957 SLC2A5 solute carrier family 2 member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11811957 SLC2A5 solute carrier family 2 member 5 gene DOID:9008939 Breast Neoplasms ISO RGD:68456 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15449313 11811994 ACVR2B activin A receptor type 2B gene DOID:0050451 Brugada syndrome ISO RGD:737613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 11811994 ACVR2B activin A receptor type 2B gene DOID:0050545 visceral heterotaxy ISO RGD:737613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visceral heterotaxy 11811994 ACVR2B activin A receptor type 2B gene DOID:0060856 right atrial isomerism ISO RGD:10078 D RGD:9068941 20220825 MouseDO OMIM:208530 11811994 ACVR2B activin A receptor type 2B gene DOID:630 genetic disease ISO RGD:737613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11811994 ACVR2B activin A receptor type 2B gene DOID:758 situs inversus ISO RGD:737613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9916847 11811994 ACVR2B activin A receptor type 2B gene DOID:9001436 Immunodeficiency 68 ISO RGD:737613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY PMID:28492532 11811994 ACVR2B activin A receptor type 2B gene DOID:9004283 Transplant Rejection treatment ISO RGD:737613 D RGD:9068941 20230427 RGD human construct in rat model PMID:27732750|REF_RGD_ID:329322881 11811994 ACVR2B activin A receptor type 2B gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:737613 D RGD:9068941 20230427 RGD human construct in rat model PMID:27732750|REF_RGD_ID:329322881 11811994 ACVR2B activin A receptor type 2B gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:737613 D RGD:7240710 20180130 OMIM 11811994 ACVR2B activin A receptor type 2B gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:737613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:16199547|PMID:17576681|PMID:2049719|PMID:21864452|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30120289|PMID:30622330|PMID:9536098|PMID:9916847 11812012 FKBP11 FKBP prolyl isomerase 11 gene DOID:3910 lung adenocarcinoma ISO RGD:1314619 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11812012 FKBP11 FKBP prolyl isomerase 11 gene DOID:630 genetic disease ISO RGD:1314619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11812012 FKBP11 FKBP prolyl isomerase 11 gene DOID:9006205 Animal Disease Models ISO RGD:1314619 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11812028 BTG4 BTG anti-proliferation factor 4 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1318793 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 11812028 BTG4 BTG anti-proliferation factor 4 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1318793 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 11812028 BTG4 BTG anti-proliferation factor 4 gene DOID:1059 intellectual disability ISO RGD:1318793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11812028 BTG4 BTG anti-proliferation factor 4 gene DOID:12704 ataxia telangiectasia ISO RGD:1318793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11812028 BTG4 BTG anti-proliferation factor 4 gene DOID:630 genetic disease ISO RGD:1318793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11812028 BTG4 BTG anti-proliferation factor 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1318793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11812028 BTG4 BTG anti-proliferation factor 4 gene DOID:9007155 Oocyte Maturation Defect 8 ISO RGD:1318793 D RGD:7240710 20200930 OMIM 11812028 BTG4 BTG anti-proliferation factor 4 gene DOID:9007155 Oocyte Maturation Defect 8 ISO RGD:1318793 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 8 PMID:25741868|PMID:32502391|PMID:34647228 11812028 BTG4 BTG anti-proliferation factor 4 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1318793 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 11812039 PRADC1 protease associated domain containing 1 gene DOID:0050473 Alstrom syndrome ISO RGD:1352558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 11812039 PRADC1 protease associated domain containing 1 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1352558 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11812039 PRADC1 protease associated domain containing 1 gene DOID:543 dystonia ISO RGD:1352558 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11812039 PRADC1 protease associated domain containing 1 gene DOID:630 genetic disease ISO RGD:1352558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11812039 PRADC1 protease associated domain containing 1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1352558 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11812048 SS18L2 SS18 like 2 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1347853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 11812048 SS18L2 SS18 like 2 gene DOID:630 genetic disease ISO RGD:1347853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11812066 ZNF30 zinc finger protein 30 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1345379 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11812066 ZNF30 zinc finger protein 30 gene DOID:630 genetic disease ISO RGD:1345379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11812082 CHURC1 churchill domain containing 1 gene DOID:630 genetic disease ISO RGD:1312958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11812103 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1348942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:26467025|PMID:28492532 11812103 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0050823 third-degree atrioventricular block ISO RGD:1348942 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Third degree atrioventricular block 11812103 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:1348942 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia PMID:16199547|PMID:17159980|PMID:19542096|PMID:24033266|PMID:24319099|PMID:25741868|PMID:25843669|PMID:26467025|PMID:27086870|PMID:27782104|PMID:28492532|PMID:31103315 11812103 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0050952 spastic ataxia ISO RGD:1348942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:19542096|PMID:24319099|PMID:25741868|PMID:26467025|PMID:27086870|PMID:28492532 11812103 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 ISO RGD:1348942 D RGD:7240710 20180711 OMIM 11812103 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 ISO RGD:1348942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:16199547|PMID:17576681|PMID:17761684|PMID:18414213|PMID:19542096|PMID:21572417|PMID:21701589|PMID:22162184|PMID:22287014|PMID:23352163|PMID:23959263|PMID:24123366|PMID:24123876|PMID:24319099|PMID:24388756|PMID:24892279|PMID:25133958|PMID:25214167|PMID:25401298|PMID:25741868|PMID:25976027|PMID:26302956|PMID:26467025|PMID:26539891|PMID:26770814|PMID:26870756|PMID:27060904|PMID:27066551|PMID:27086870|PMID:27178001|PMID:27197992|PMID:27305979|PMID:27378695|PMID:28017257|PMID:28074886|PMID:28178086|PMID:28492532|PMID:28750076|PMID:29625556|PMID:29961767|PMID:30029642|PMID:30119932|PMID:30275942|PMID:30487145|PMID:30564623|PMID:30610203|PMID:31230720|PMID:3169216|PMID:31692161|PMID:32038460|PMID:9536098 11812103 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1348942 D RGD:9068941 20200609 RGD DNA:mutation:splice junction: PMID:19542096|REF_RGD_ID:13209012 11812103 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0080979 arthrogryposis multiplex congenita-3 ISO RGD:1348942 D RGD:7240710 20190814 OMIM 11812103 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0080979 arthrogryposis multiplex congenita-3 ISO RGD:1348942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 3, myogenic type PMID:19542096|PMID:24319099|PMID:24838835|PMID:25741868|PMID:26467025|PMID:27086870|PMID:27178001|PMID:27782104|PMID:28492532 11812103 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1348942 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A 11812103 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:1348942 D RGD:7240710 20180130 OMIM 11812103 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:1348942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:16199547|PMID:17159980|PMID:17503513|PMID:17576681|PMID:17761684|PMID:18414213|PMID:19542096|PMID:19944109|PMID:21572417|PMID:21701589|PMID:22162184|PMID:22287014|PMID:23325900|PMID:23352163|PMID:23959263|PMID:24033266|PMID:24123366|PMID:24123876|PMID:24319099|PMID:24366360|PMID:24388756|PMID:24838835|PMID:24892279|PMID:25091525|PMID:25133958|PMID:25214167|PMID:25401298|PMID:25640679|PMID:25741868|PMID:25843669|PMID:25976027|PMID:26302956|PMID:26467025|PMID:26539891|PMID:26770814|PMID:26870756|PMID:27060904|PMID:27066551|PMID:27086870|PMID:27178001|PMID:27197992|PMID:27305979|PMID:27378695|PMID:27671794|PMID:27782104|PMID:28017257|PMID:28074886|PMID:28178086|PMID:28492532|PMID:28687974|PMID:28750076|PMID:28798025|PMID:29077258|PMID:29389947|PMID:29482223|PMID:29625556|PMID:29961767|PMID:30029642|PMID:30119932|PMID:30275942|PMID:30487145|PMID:30564623|PMID:30573412|PMID:30610203|PMID:30619065|PMID:31103315|PMID:31127727|PMID:31230720|PMID:3169216|PMID:31692161|PMID:32038460|PMID:32348865|PMID:32488064|PMID:32870032|PMID:32889669|PMID:34368859|PMID:34602496|PMID:9536098 11812103 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:1059 intellectual disability ISO RGD:1348942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17761684|PMID:23352163|PMID:24123876|PMID:25741868|PMID:26467025|PMID:27086870|PMID:27178001|PMID:28492532|PMID:30564623|PMID:31692161 11812103 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1348942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532 11812103 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:303 substance-related disorder ISO RGD:1348942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11812103 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:3070 high grade glioma ISO RGD:1348942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11812103 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:3312 bipolar disorder susceptibility ISO RGD:1348942 D RGD:9068941 20200609 RGD DNA:SNPs:promoter,intron: PMID:28178086|REF_RGD_ID:13209005 11812103 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:630 genetic disease ISO RGD:1348942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17159980|PMID:19542096|PMID:24033266|PMID:24319099|PMID:25741868|PMID:25843669|PMID:26467025|PMID:27086870|PMID:27178001|PMID:27378695|PMID:27782104|PMID:28492532|PMID:31103315 11812103 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:9000276 Juvenile Amyotrophic Lateral Sclerosis ISO RGD:1348942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis PMID:25741868 11812103 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:9000495 Tremor ISO RGD:1348942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor 11812103 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:28492532 11812103 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1348942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 11812103 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1348942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 11812103 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:9884 muscular dystrophy ISO RGD:1348942 D RGD:9068941 20200609 RGD DNA:mutation:cds: c.323C>T, p.N108S(human) PMID:25091525|REF_RGD_ID:13209008 11812263 CPA6 carboxypeptidase A6 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1323390 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Periventricular heterotopia PMID:21922598|PMID:23105115|PMID:25741868|PMID:26467025|PMID:26648591|PMID:28492532|PMID:28761347|PMID:29358611|PMID:32581362 11812263 CPA6 carboxypeptidase A6 gene DOID:0060752 familial temporal lobe epilepsy 5 ISO RGD:1323390 D RGD:7240710 20180130 OMIM 11812263 CPA6 carboxypeptidase A6 gene DOID:0060752 familial temporal lobe epilepsy 5 ISO RGD:1323390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 5 PMID:17576681|PMID:21922598|PMID:23105115|PMID:25741868|PMID:26467025|PMID:26648591|PMID:28166811|PMID:28492532|PMID:28761347|PMID:29358611|PMID:32581362|PMID:9536098 11812263 CPA6 carboxypeptidase A6 gene DOID:0060755 familial temporal lobe epilepsy 2 ISO RGD:1323390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 2 11812263 CPA6 carboxypeptidase A6 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1323390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 21 PMID:24360807|PMID:24360808|PMID:28492532 11812263 CPA6 carboxypeptidase A6 gene DOID:0111308 familial febrile seizures 11 ISO RGD:1323390 D RGD:7240710 20180130 OMIM 11812263 CPA6 carboxypeptidase A6 gene DOID:0111308 familial febrile seizures 11 ISO RGD:1323390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Febrile seizures, familial, 11 PMID:16199547|PMID:17576681|PMID:21922598|PMID:23105115|PMID:25741868|PMID:26467025|PMID:26648591|PMID:27781031|PMID:28166811|PMID:28492532|PMID:28761347|PMID:29358611|PMID:32581362|PMID:9536098 11812263 CPA6 carboxypeptidase A6 gene DOID:10283 prostate cancer ISO RGD:1323390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11812263 CPA6 carboxypeptidase A6 gene DOID:1059 intellectual disability ISO RGD:1323390 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21922598|PMID:23105115|PMID:25741868|PMID:28492532|PMID:29358611 11812263 CPA6 carboxypeptidase A6 gene DOID:1826 epilepsy ISO RGD:1323390 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:21922598|PMID:23105115|PMID:25741868|PMID:26467025|PMID:26648591|PMID:28492532|PMID:28761347|PMID:29358611|PMID:32581362 11812263 CPA6 carboxypeptidase A6 gene DOID:2234 focal epilepsy ISO RGD:1323390 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:21922598|PMID:23105115|PMID:25741868|PMID:26467025|PMID:26648591|PMID:28492532|PMID:28761347|PMID:29358611|PMID:32581362 11812263 CPA6 carboxypeptidase A6 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1323390 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:21922598|PMID:23105115|PMID:25741868|PMID:26467025|PMID:26648591|PMID:28492532|PMID:28761347|PMID:29358611|PMID:32581362 11812263 CPA6 carboxypeptidase A6 gene DOID:630 genetic disease ISO RGD:1323390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11812263 CPA6 carboxypeptidase A6 gene DOID:9000348 Confusion ISO RGD:1323390 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Confusion PMID:21922598|PMID:23105115|PMID:25741868|PMID:26467025|PMID:26648591|PMID:28492532|PMID:28761347|PMID:29358611|PMID:32581362 11812263 CPA6 carboxypeptidase A6 gene DOID:9008086 Developmental Disabilities ISO RGD:1323390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:21922598|PMID:23105115|PMID:25741868|PMID:26467025|PMID:26648591|PMID:28492532|PMID:28761347|PMID:29358611|PMID:32581362 11812278 FBXL3 F-box and leucine rich repeat protein 3 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1343078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11812278 FBXL3 F-box and leucine rich repeat protein 3 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1343078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10528251|PMID:20127975|PMID:20157158|PMID:22589734|PMID:28492532|PMID:30394532|PMID:31406620|PMID:32393339|PMID:8001159 11812278 FBXL3 F-box and leucine rich repeat protein 3 gene DOID:630 genetic disease ISO RGD:1343078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11812278 FBXL3 F-box and leucine rich repeat protein 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1343078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:18414213|PMID:24767253|PMID:25741868|PMID:28492532 11812278 FBXL3 F-box and leucine rich repeat protein 3 gene DOID:9005631 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS ISO RGD:1343078 D RGD:7240710 20190424 OMIM 11812278 FBXL3 F-box and leucine rich repeat protein 3 gene DOID:9005631 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS ISO RGD:1343078 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, short stature, facial anomalies, and joint dislocations PMID:11477608|PMID:25741868|PMID:30481285 11812286 RAB34 RAB34, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1312861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11812346 FBXO31 F-box protein 31 gene DOID:0050669 spastic cerebral palsy ISO RGD:1351564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic cerebral palsy PMID:32989326|PMID:33675180 11812346 FBXO31 F-box protein 31 gene DOID:0070124 congenital nongoitrous hypothyroidism 2 ISO RGD:1351564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectopic thyroid PMID:32989326|PMID:33675180 11812346 FBXO31 F-box protein 31 gene DOID:0081209 autosomal recessive intellectual developmental disorder 45 ISO RGD:1351564 D RGD:7240710 20180130 OMIM 11812346 FBXO31 F-box protein 31 gene DOID:0081209 autosomal recessive intellectual developmental disorder 45 ISO RGD:1351564 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 45 PMID:25741868|PMID:32989326|PMID:33675180 11812346 FBXO31 F-box protein 31 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1351564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 11812346 FBXO31 F-box protein 31 gene DOID:630 genetic disease ISO RGD:1351564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11812346 FBXO31 F-box protein 31 gene DOID:8433 thyroid malformation ISO RGD:1351564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectopic thyroid PMID:32989326|PMID:33675180 11812346 FBXO31 F-box protein 31 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1351564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 11812405 DOK6 docking protein 6 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1346452 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11812405 DOK6 docking protein 6 gene DOID:1059 intellectual disability ISO RGD:1346452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11812405 DOK6 docking protein 6 gene DOID:630 genetic disease ISO RGD:1346452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11812405 DOK6 docking protein 6 gene DOID:6420 pulmonary valve stenosis ISO RGD:1346452 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 11812405 DOK6 docking protein 6 gene DOID:8445 intestinal volvulus ISO RGD:1346452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11812405 DOK6 docking protein 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11812405 DOK6 docking protein 6 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1346452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11812416 TMPRSS11D transmembrane serine protease 11D gene DOID:0080599 Coronavirus infectious disease ISO RGD:1606328 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24227843 11812416 TMPRSS11D transmembrane serine protease 11D gene DOID:2945 severe acute respiratory syndrome ISO RGD:1606328 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24227843 11812416 TMPRSS11D transmembrane serine protease 11D gene DOID:630 genetic disease ISO RGD:1606328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11812416 TMPRSS11D transmembrane serine protease 11D gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1606328 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11812416 TMPRSS11D transmembrane serine protease 11D gene DOID:9001488 Human Influenza ISO RGD:1606328 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20237084|PMID:23072892 11812416 TMPRSS11D transmembrane serine protease 11D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11812468 HOXD11 homeobox D11 gene DOID:0080006 bone development disease ISO RGD:1346896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7925020 11812468 HOXD11 homeobox D11 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1346896 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11812468 HOXD11 homeobox D11 gene DOID:12336 male infertility ISO RGD:1346896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7925020 11812468 HOXD11 homeobox D11 gene DOID:12849 autistic disorder ISO RGD:1346896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19540081 11812468 HOXD11 homeobox D11 gene DOID:3070 high grade glioma ISO RGD:1346896 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:33614284 11812468 HOXD11 homeobox D11 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1346896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22227861 11812468 HOXD11 homeobox D11 gene DOID:557 kidney disease ISO RGD:1346896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7596412 11812468 HOXD11 homeobox D11 gene DOID:630 genetic disease ISO RGD:1346896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11812468 HOXD11 homeobox D11 gene DOID:7148 rheumatoid arthritis ISO RGD:1346896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 11812468 HOXD11 homeobox D11 gene DOID:9000918 Disease Progression ISO RGD:1346896 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:33614284 11812468 HOXD11 homeobox D11 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1346896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17303177 11812468 HOXD11 homeobox D11 gene DOID:9004998 Kyphoscoliosis ISO RGD:7730597 D RGD:9068941 20200609 RGD mRNA:decreased expression:verterbra PMID:18327665|REF_RGD_ID:11354896 11812468 HOXD11 homeobox D11 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1346896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7596412|PMID:7925020|PMID:8620844 11812468 HOXD11 homeobox D11 gene DOID:9007364 Mouth Neoplasms ISO RGD:1346896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22227861 11812468 HOXD11 homeobox D11 gene DOID:9008939 Breast Neoplasms ISO RGD:1346896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15818620 11812475 MAJIN membrane anchored junction protein gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1604186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11812475 MAJIN membrane anchored junction protein gene DOID:1059 intellectual disability ISO RGD:1604186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11812475 MAJIN membrane anchored junction protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11812475 MAJIN membrane anchored junction protein gene DOID:2746 glycogen storage disease V ISO RGD:1604186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11812475 MAJIN membrane anchored junction protein gene DOID:3070 high grade glioma ISO RGD:1604186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11812475 MAJIN membrane anchored junction protein gene DOID:630 genetic disease ISO RGD:1604186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11812501 CD37 CD37 molecule gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1346523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11812501 CD37 CD37 molecule gene DOID:630 genetic disease ISO RGD:1346523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11812524 MCTP2 multiple C2 and transmembrane domain containing 2 gene DOID:630 genetic disease ISO RGD:1603987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11812560 TOB1 transducer of ERBB2, 1 gene DOID:289 endometriosis ISO RGD:1352967 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 11812560 TOB1 transducer of ERBB2, 1 gene DOID:630 genetic disease ISO RGD:1352967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11812560 TOB1 transducer of ERBB2, 1 gene DOID:9001341 Chloracne ISO RGD:1352967 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 11812560 TOB1 transducer of ERBB2, 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:1352967 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12756225 11812566 SLC9C2 solute carrier family 9 member C2 (putative) gene DOID:1540 parathyroid carcinoma ISO RGD:1354032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11812566 SLC9C2 solute carrier family 9 member C2 (putative) gene DOID:3755 antithrombin III deficiency ISO RGD:1354032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 11812566 SLC9C2 solute carrier family 9 member C2 (putative) gene DOID:630 genetic disease ISO RGD:1354032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11812566 SLC9C2 solute carrier family 9 member C2 (putative) gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1354032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 11812566 SLC9C2 solute carrier family 9 member C2 (putative) gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1354032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 11812566 SLC9C2 solute carrier family 9 member C2 (putative) gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11812598 LY6G6C lymphocyte antigen 6 family member G6C gene DOID:0050553 JMP syndrome ISO RGD:1344908 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11812598 LY6G6C lymphocyte antigen 6 family member G6C gene DOID:630 genetic disease ISO RGD:1344908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11812605 TRMT10A tRNA methyltransferase 10A gene DOID:630 genetic disease ISO RGD:1319496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24204302|PMID:25053765|PMID:26526202|PMID:26535115|PMID:28492532 11812605 TRMT10A tRNA methyltransferase 10A gene DOID:9006534 Nervous System Malformations ISO RGD:1319496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:24204302|PMID:25741868|PMID:26535115|PMID:28492532 11812605 TRMT10A tRNA methyltransferase 10A gene DOID:9006685 Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 ISO RGD:1319496 D RGD:7240710 20180130 OMIM 11812605 TRMT10A tRNA methyltransferase 10A gene DOID:9006685 Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 ISO RGD:1319496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 1 PMID:24204302|PMID:25053765|PMID:25741868|PMID:26535115|PMID:28492532 11812623 LIN9 lin-9 DREAM MuvB core complex component gene DOID:1540 parathyroid carcinoma ISO RGD:1348970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11812623 LIN9 lin-9 DREAM MuvB core complex component gene DOID:630 genetic disease ISO RGD:1348970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11812623 LIN9 lin-9 DREAM MuvB core complex component gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11812651 JUP junction plakoglobin gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:732396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:24033266|PMID:24884844|PMID:25741868|PMID:28098346|PMID:28492532|PMID:33673806 11812651 JUP junction plakoglobin gene DOID:0050700 cardiomyopathy ISO RGD:732396 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:16467215|PMID:19863551|PMID:20525856|PMID:20864495|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25363768|PMID:25445213|PMID:25741868|PMID:25765472|PMID:26073755|PMID:27005929|PMID:27532257|PMID:28492532|PMID:29802319|PMID:29892012|PMID:30847666|PMID:31983221|PMID:32268277|PMID:34011629 11812651 JUP junction plakoglobin gene DOID:0060480 left ventricular noncompaction ISO RGD:732396 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 11812651 JUP junction plakoglobin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:732396 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:21859740|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27662471|PMID:27930701|PMID:28492532|PMID:28831623 11812651 JUP junction plakoglobin gene DOID:0080365 endometrial hyperplasia ISO RGD:732396 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium PMID:12635138|REF_RGD_ID:2301747 11812651 JUP junction plakoglobin gene DOID:0080551 Naxos disease ISO RGD:732396 D RGD:7240710 20180130 OMIM 11812651 JUP junction plakoglobin gene DOID:0080551 Naxos disease ISO RGD:732396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES | ClinVar Annotator: match by term: Naxos disease | ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR PMID:10902626|PMID:16199547|PMID:16467215|PMID:17576681|PMID:18672408|PMID:18937352|PMID:19067702|PMID:19863551|PMID:20031617|PMID:20130592|PMID:20152563|PMID:20525856|PMID:20857253|PMID:20864495|PMID:21320868|PMID:21606396|PMID:21668431|PMID:21859740|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24238504|PMID:24503780|PMID:24704780|PMID:24884844|PMID:25351510|PMID:25363760|PMID:25363768|PMID:25445213|PMID:25616645|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26220970|PMID:26230511|PMID:26272908|PMID:27005929|PMID:27037756|PMID:27532257|PMID:27662471|PMID:27930701|PMID:28098346|PMID:28166811|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28798025|PMID:28831623|PMID:28855170|PMID:29247119|PMID:29334134|PMID:29517769|PMID:29606362|PMID:29619247|PMID:29892012|PMID:30206291|PMID:30453078|PMID:30775854|PMID:30847666|PMID:31275992|PMID:31402444|PMID:31737537|PMID:31983221|PMID:32212272|PMID:32233023|PMID:32268277|PMID:32746448|PMID:32880476|PMID:33500567|PMID:33673806|PMID:34011629|PMID:34026867|PMID:35581137|PMID:9536098 11812651 JUP junction plakoglobin gene DOID:0080551 Naxos disease ISO RGD:732396 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES | ClinVar Annotator: match by term: Naxos disease PMID:10902626|PMID:16199547|PMID:16467215|PMID:17576681|PMID:18672408|PMID:18937352|PMID:19067702|PMID:19863551|PMID:20031617|PMID:20130592|PMID:20152563|PMID:20525856|PMID:20857253|PMID:20864495|PMID:21320868|PMID:21606396|PMID:21668431|PMID:21859740|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24238504|PMID:24503780|PMID:24704780|PMID:24884844|PMID:25351510|PMID:25363760|PMID:25363768|PMID:25445213|PMID:25616645|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26220970|PMID:26230511|PMID:26272908|PMID:27005929|PMID:27037756|PMID:27532257|PMID:27662471|PMID:27930701|PMID:28098346|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28798025|PMID:28831623|PMID:28855170|PMID:29247119|PMID:29334134|PMID:29517769|PMID:29606362|PMID:29619247|PMID:29892012|PMID:30206291|PMID:30453078|PMID:30775854|PMID:30847666|PMID:31275992|PMID:31402444|PMID:31737537|PMID:31983221|PMID:32212272|PMID:32233023|PMID:32268277|PMID:32746448|PMID:32880476|PMID:33500567|PMID:33673806|PMID:33919104|PMID:34011629|PMID:34026867|PMID:35581137|PMID:9536098 11812651 JUP junction plakoglobin gene DOID:0110083 arrhythmogenic right ventricular dysplasia 12 ISO RGD:732396 D RGD:7240710 20180130 OMIM 11812651 JUP junction plakoglobin gene DOID:0110083 arrhythmogenic right ventricular dysplasia 12 ISO RGD:732396 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 PMID:10902626|PMID:16199547|PMID:16467215|PMID:17576681|PMID:18672408|PMID:19863551|PMID:20031617|PMID:20130592|PMID:20152563|PMID:20525856|PMID:20857253|PMID:20864495|PMID:21606396|PMID:21668431|PMID:21859740|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24238504|PMID:24503780|PMID:25351510|PMID:25363760|PMID:25363768|PMID:25445213|PMID:25616645|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26220970|PMID:26230511|PMID:26272908|PMID:27005929|PMID:27037756|PMID:27532257|PMID:27662471|PMID:27930701|PMID:28341588|PMID:28471438|PMID:28492532|PMID:28831623|PMID:28855170|PMID:29247119|PMID:29334134|PMID:29517769|PMID:29606362|PMID:29892012|PMID:30775854|PMID:30847666|PMID:31275992|PMID:31402444|PMID:31983221|PMID:32212272|PMID:32233023|PMID:32268277|PMID:32746448|PMID:32880476|PMID:33500567|PMID:33919104|PMID:34011629|PMID:34026867|PMID:35581137|PMID:9536098 11812651 JUP junction plakoglobin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:21859740|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27662471|PMID:28166811|PMID:28492532|PMID:28831623 11812651 JUP junction plakoglobin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732396 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:21859740|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27662471|PMID:27930701|PMID:28492532|PMID:28831623 11812651 JUP junction plakoglobin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:732396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:28492532 11812651 JUP junction plakoglobin gene DOID:10283 prostate cancer ISO RGD:732396 D RGD:9068941 20200609 RGD DNA,mRNA,protein:loss of heterozygosity, decreased expression:tumor:relative to either BPH or normal prostate PMID:15781623|REF_RGD_ID:2291864 11812651 JUP junction plakoglobin gene DOID:10283 prostate cancer severity ISO RGD:732396 D RGD:9068941 20200609 RGD protein:increased expression:tumor:significantly associated with capsular invasion (p=0.007 for all cases, p=0.015 for cases with Gleason score 5-7) PMID:10206308|REF_RGD_ID:2291876 11812651 JUP junction plakoglobin gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732396 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:significant association with tumor grade and stage (p < 0.001) PMID:17363521|REF_RGD_ID:2289818 11812651 JUP junction plakoglobin gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732397 D RGD:9068941 20200609 RGD DNA, protein:mutations, increased expression:urinary bladder PMID:11585741|REF_RGD_ID:2301748 11812651 JUP junction plakoglobin gene DOID:11054 urinary bladder cancer severity ISO RGD:732396 D RGD:9068941 20200609 RGD protein:altered localization:tumor:loss of membrane expression associated with higher grade (p<0.05), higher stage (p<0.05), and poor survival (p<0.05) PMID:9783980|REF_RGD_ID:2291880 11812651 JUP junction plakoglobin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 11812651 JUP junction plakoglobin gene DOID:12930 dilated cardiomyopathy ISO RGD:732396 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:20031617|PMID:20857253|PMID:21859740|PMID:23861362|PMID:24033266|PMID:25616645|PMID:25741868|PMID:25820315|PMID:27532257|PMID:27662471|PMID:27930701|PMID:28471438|PMID:28492532|PMID:28831623|PMID:31402444|PMID:31983221|PMID:32233023|PMID:34026867|PMID:35581137 11812651 JUP junction plakoglobin gene DOID:1380 endometrial cancer ISO RGD:732396 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium PMID:12635138|REF_RGD_ID:2301747 11812651 JUP junction plakoglobin gene DOID:2154 nephroblastoma disease_progression ISO RGD:732396 D RGD:9068941 20200609 RGD PMID:17633921|REF_RGD_ID:2301745 11812651 JUP junction plakoglobin gene DOID:2394 ovarian cancer ISO RGD:732396 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:tumor:in individuals carrying the BRCA1 predisposition PMID:7604000|REF_RGD_ID:2291881 11812651 JUP junction plakoglobin gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:732396 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:associated with higher Robinson grade (p=0.016) and lymph node metastases (p=0.012) PMID:16610682|REF_RGD_ID:2291882 11812651 JUP junction plakoglobin gene DOID:3390 palmoplantar keratosis ISO RGD:732396 D RGD:9068941 20200609 RGD Naxos disease, OMIM:601214 DNA:deletion:CDS:2157delTG PMID:10902626|REF_RGD_ID:1600286 11812651 JUP junction plakoglobin gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:732396 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:27532257|PMID:28492532|PMID:31983221|PMID:32233023 11812651 JUP junction plakoglobin gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:732396 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:27532257|PMID:28492532|PMID:31983221|PMID:32233023 11812651 JUP junction plakoglobin gene DOID:409 liver disease ISO RGD:732396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11812651 JUP junction plakoglobin gene DOID:4440 seminoma ISO RGD:732396 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:relative to normal tissue (p<0.01) PMID:11956097|REF_RGD_ID:2291872 11812651 JUP junction plakoglobin gene DOID:4450 renal cell carcinoma ISO RGD:732396 D RGD:9068941 20200609 RGD DNA:increased methylation:promoter:significantly increased methylation vs normal kidney (p < 0.01) PMID:15701841|REF_RGD_ID:2291866 11812651 JUP junction plakoglobin gene DOID:4450 renal cell carcinoma ISO RGD:732396 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:relative to normal kidney (p<0.001), higher expression associated with better survival rate (p<0.05) PMID:9891472|REF_RGD_ID:2291890 11812651 JUP junction plakoglobin gene DOID:4603 epidermolytic hyperkeratosis ISO RGD:732397 D RGD:9068941 20220825 MouseDO OMIM:113800 11812651 JUP junction plakoglobin gene DOID:630 genetic disease ISO RGD:732396 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 11812651 JUP junction plakoglobin gene DOID:9000064 Cardiac Arrhythmias ISO RGD:732396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:24033266|PMID:25741868|PMID:28492532 11812651 JUP junction plakoglobin gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:732396 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:14670177|REF_RGD_ID:2301235 11812651 JUP junction plakoglobin gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:732396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:24033266|PMID:25741868|PMID:26220970|PMID:28492532|PMID:29334134 11812651 JUP junction plakoglobin gene DOID:9000965 Neoplasm Metastasis ISO RGD:732396 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms PMID:15619205|REF_RGD_ID:2301746 11812651 JUP junction plakoglobin gene DOID:9001836 Cardiac Conduction Defect ISO RGD:732396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:25741868|PMID:27532257|PMID:28492532|PMID:30847666 11812651 JUP junction plakoglobin gene DOID:9002304 Prostatic Neoplasms ISO RGD:732396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11812651 JUP junction plakoglobin gene DOID:9003163 Heart Block ISO RGD:732396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:25741868|PMID:27532257|PMID:28492532|PMID:30847666 11812651 JUP junction plakoglobin gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:732396 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:23861362|PMID:25741868|PMID:28492532 11812651 JUP junction plakoglobin gene DOID:9005527 No-Reflow Phenomenon ISO RGD:732396 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16824628 11812651 JUP junction plakoglobin gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:732396 D RGD:9068941 20200609 RGD Naxos disease, OMIM:601214 DNA:deletion:CDS:2157delTG PMID:10902626|REF_RGD_ID:1600286 11812651 JUP junction plakoglobin gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:732396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:25741868|PMID:28492532 11812651 JUP junction plakoglobin gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:732396 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:20864495|PMID:24033266|PMID:25351510|PMID:25363768|PMID:25741868|PMID:28492532|PMID:29892012|PMID:32268277|PMID:34011629 11812651 JUP junction plakoglobin gene DOID:9008939 Breast Neoplasms ISO RGD:732396 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:tumor:in individuals carrying the BRCA1 predisposition PMID:7604000|REF_RGD_ID:2291881 11812651 JUP junction plakoglobin gene DOID:9008939 Breast Neoplasms no_association ISO RGD:732396 D RGD:9068941 20200609 RGD Protein::tumor:normal expression in both T1 and T2 tumors PMID:17008277|REF_RGD_ID:2291883 11812651 JUP junction plakoglobin gene DOID:9008939 Breast Neoplasms severity ISO RGD:732396 D RGD:9068941 20200609 RGD protein:increased expression:tumor, cell membrane:significantly associated with relapse-free and overall survival (p=0.029 and 0.020, respectively) PMID:11276001|REF_RGD_ID:2291873 11812691 S100G S100 calcium binding protein G gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11812691 S100G S100 calcium binding protein G gene DOID:12849 autistic disorder ISO RGD:1344914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11812691 S100G S100 calcium binding protein G gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11812698 EVX1 even-skipped homeobox 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11812698 EVX1 even-skipped homeobox 1 gene DOID:630 genetic disease ISO RGD:1344299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11812710 TTC9B tetratricopeptide repeat domain 9B gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1603894 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11812710 TTC9B tetratricopeptide repeat domain 9B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11812710 TTC9B tetratricopeptide repeat domain 9B gene DOID:1342 congenital hypoplastic anemia ISO RGD:1603894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11812710 TTC9B tetratricopeptide repeat domain 9B gene DOID:2340 craniosynostosis ISO RGD:1603894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11812710 TTC9B tetratricopeptide repeat domain 9B gene DOID:630 genetic disease ISO RGD:1603894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11812710 TTC9B tetratricopeptide repeat domain 9B gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1603894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11812710 TTC9B tetratricopeptide repeat domain 9B gene DOID:9269 maple syrup urine disease ISO RGD:1603894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11812710 TTC9B tetratricopeptide repeat domain 9B gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603894 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11812717 NADSYN1 NAD synthetase 1 gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1602697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 11812717 NADSYN1 NAD synthetase 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1602697 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11812717 NADSYN1 NAD synthetase 1 gene DOID:1059 intellectual disability ISO RGD:1602697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11812717 NADSYN1 NAD synthetase 1 gene DOID:14692 Smith-Lemli-Opitz syndrome ISO RGD:1602697 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome PMID:23042628|PMID:24813812|PMID:25040602|PMID:25741868|PMID:28250423|PMID:28492532 11812717 NADSYN1 NAD synthetase 1 gene DOID:3070 high grade glioma susceptibility ISO RGD:1602697 D RGD:9068941 20200609 RGD PMID:22740028|REF_RGD_ID:13703114 11812717 NADSYN1 NAD synthetase 1 gene DOID:630 genetic disease ISO RGD:1602697 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23042628|PMID:24813812|PMID:25040602|PMID:25741868|PMID:28250423|PMID:28492532 11812717 NADSYN1 NAD synthetase 1 gene DOID:9003370 Dyslipidemias susceptibility ISO RGD:1602697 D RGD:9068941 20200609 RGD DNA:SNP: :rs12785878 G>T(human) PMID:24073860|REF_RGD_ID:13703112 11812717 NADSYN1 NAD synthetase 1 gene DOID:9005044 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 ISO RGD:1602697 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Vertebral, cardiac, renal, and limb defects syndrome 1 PMID:31883644|PMID:34681008|PMID:35491967 11812717 NADSYN1 NAD synthetase 1 gene DOID:9006359 Vitamin D Deficiency susceptibility ISO RGD:1602697 D RGD:9068941 20200609 RGD DNA:SNP: :rs10898191(human) PMID:22785457|REF_RGD_ID:11251488 11812717 NADSYN1 NAD synthetase 1 gene DOID:9008333 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3 ISO RGD:1602697 D RGD:7240710 20200513 OMIM 11812717 NADSYN1 NAD synthetase 1 gene DOID:9008333 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3 ISO RGD:1602697 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Vertebral, cardiac, renal, and limb defects syndrome 3 PMID:12547821|PMID:12771147|PMID:25741868|PMID:28492532|PMID:31883644 11812751 CCDC106 coiled-coil domain containing 106 gene DOID:630 genetic disease ISO RGD:1607037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11812760 LOC100977974 trace amine-associated receptor 1 gene DOID:5419 schizophrenia ISO RGD:1553140 D RGD:9068941 20220825 MouseDO OMIM:181500 11812760 LOC100977974 trace amine-associated receptor 1 gene DOID:630 genetic disease ISO RGD:1346236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11812765 DMAC2 distal membrane arm assembly component 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1605674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11812765 DMAC2 distal membrane arm assembly component 2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1605674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11812765 DMAC2 distal membrane arm assembly component 2 gene DOID:2340 craniosynostosis ISO RGD:1605674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11812765 DMAC2 distal membrane arm assembly component 2 gene DOID:630 genetic disease ISO RGD:1605674 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11812765 DMAC2 distal membrane arm assembly component 2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1605674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11812765 DMAC2 distal membrane arm assembly component 2 gene DOID:9269 maple syrup urine disease ISO RGD:1605674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11812792 B4GALT2 beta-1,4-galactosyltransferase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1313336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:23252400|PMID:28492532 11812792 B4GALT2 beta-1,4-galactosyltransferase 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1313336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11812792 B4GALT2 beta-1,4-galactosyltransferase 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1313336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:23252400|PMID:28492532 11812792 B4GALT2 beta-1,4-galactosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1313336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11812812 ARRDC2 arrestin domain containing 2 gene DOID:630 genetic disease ISO RGD:1320117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11812812 ARRDC2 arrestin domain containing 2 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1320117 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11812824 ANTKMT adenine nucleotide translocase lysine methyltransferase gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1343313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 11812824 ANTKMT adenine nucleotide translocase lysine methyltransferase gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1343313 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11812824 ANTKMT adenine nucleotide translocase lysine methyltransferase gene DOID:1826 epilepsy ISO RGD:1343313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11812824 ANTKMT adenine nucleotide translocase lysine methyltransferase gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1343313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11812824 ANTKMT adenine nucleotide translocase lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1343313 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11812833 SLC25A36 solute carrier family 25 member 36 gene DOID:0081328 familial hyperinsulinemic hypoglycemia 8 ISO RGD:1605658 D RGD:7240710 20230215 OMIM 11812833 SLC25A36 solute carrier family 25 member 36 gene DOID:0081328 familial hyperinsulinemic hypoglycemia 8 ISO RGD:1605658 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 8 PMID:34576089|PMID:34971397 11812833 SLC25A36 solute carrier family 25 member 36 gene DOID:630 genetic disease ISO RGD:1605658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11812849 C1H1orf127 chromosome 1 C1orf127 homolog gene DOID:0050144 Kartagener syndrome ISO RGD:1617356 D RGD:9068941 20220825 MouseDO 11812849 C1H1orf127 chromosome 1 C1orf127 homolog gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606706 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11812849 C1H1orf127 chromosome 1 C1orf127 homolog gene DOID:0050545 visceral heterotaxy ISO RGD:1617356 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 11812849 C1H1orf127 chromosome 1 C1orf127 homolog gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606706 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11812849 C1H1orf127 chromosome 1 C1orf127 homolog gene DOID:0111936 immunodeficiency 14 ISO RGD:1606706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 11812849 C1H1orf127 chromosome 1 C1orf127 homolog gene DOID:630 genetic disease ISO RGD:1606706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11812849 C1H1orf127 chromosome 1 C1orf127 homolog gene DOID:9006158 Peroxisome Biogenesis Disorder, Complementation Group K ISO RGD:1606706 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K PMID:28492532 11812849 C1H1orf127 chromosome 1 C1orf127 homolog gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1606706 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 11812849 C1H1orf127 chromosome 1 C1orf127 homolog gene DOID:9562 primary ciliary dyskinesia ISO RGD:1617356 D RGD:9068941 20220825 MouseDO 11812865 AK2 adenylate kinase 2 gene DOID:0060020 reticular dysgenesis ISO RGD:735291 D RGD:7240710 20180130 OMIM 11812865 AK2 adenylate kinase 2 gene DOID:0060020 reticular dysgenesis ISO RGD:735291 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Reticular dysgenesis PMID:17576681|PMID:19043416|PMID:19043417|PMID:19414857|PMID:23014587|PMID:23763981|PMID:24033266|PMID:25741868|PMID:26229552|PMID:26997321|PMID:28331055|PMID:28492532|PMID:29270983|PMID:29713328|PMID:30697212|PMID:30778343|PMID:31673062|PMID:32532877|PMID:9536098 11812865 AK2 adenylate kinase 2 gene DOID:0080600 COVID-19 ISO RGD:735291 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11812865 AK2 adenylate kinase 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:735291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11812865 AK2 adenylate kinase 2 gene DOID:3328 temporal lobe epilepsy ISO RGD:2077 D RGD:9068941 20200609 RGD PMID:22246993|REF_RGD_ID:11100024 11812865 AK2 adenylate kinase 2 gene DOID:627 severe combined immunodeficiency ISO RGD:735291 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:17576681|PMID:19043416|PMID:19043417|PMID:26229552|PMID:28331055|PMID:28492532|PMID:29270983|PMID:9536098 11812865 AK2 adenylate kinase 2 gene DOID:630 genetic disease ISO RGD:735291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11812865 AK2 adenylate kinase 2 gene DOID:9008681 Deafness ISO RGD:735291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19043416 11812925 ITPRID1 ITPR interacting domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11812925 ITPRID1 ITPR interacting domain containing 1 gene DOID:630 genetic disease ISO RGD:1604967 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11812950 NEU2 neuraminidase 2 gene DOID:0060476 Perlman syndrome ISO RGD:736190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11812950 NEU2 neuraminidase 2 gene DOID:0110991 Joubert syndrome 22 ISO RGD:736190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11812950 NEU2 neuraminidase 2 gene DOID:630 genetic disease ISO RGD:736190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11812964 STARD10 StAR related lipid transfer domain containing 10 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1315225 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11812964 STARD10 StAR related lipid transfer domain containing 10 gene DOID:1059 intellectual disability ISO RGD:1315225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11812964 STARD10 StAR related lipid transfer domain containing 10 gene DOID:630 genetic disease ISO RGD:1315225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11812964 STARD10 StAR related lipid transfer domain containing 10 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11812999 ATAD5 ATPase family AAA domain containing 5 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1605345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 11812999 ATAD5 ATPase family AAA domain containing 5 gene DOID:1115 sarcoma susceptibility ISO RGD:1557158 D RGD:9068941 20200609 RGD PMID:21901109|REF_RGD_ID:11552595 11812999 ATAD5 ATPase family AAA domain containing 5 gene DOID:1969 cerebral palsy ISO RGD:1605345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 11812999 ATAD5 ATPase family AAA domain containing 5 gene DOID:3192 neurilemmoma ISO RGD:1605345 D RGD:9068941 20200609 RGD mRNA:increased expression:neural tissue (human) PMID:20844836|REF_RGD_ID:11552594 11812999 ATAD5 ATPase family AAA domain containing 5 gene DOID:4001 ovarian carcinoma ISO RGD:1605345 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:25581431 11812999 ATAD5 ATPase family AAA domain containing 5 gene DOID:630 genetic disease ISO RGD:1605345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11812999 ATAD5 ATPase family AAA domain containing 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1605345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 11812999 ATAD5 ATPase family AAA domain containing 5 gene DOID:9008582 Developmental Disease susceptibility ISO RGD:1557158 D RGD:9068941 20200609 RGD PMID:21901109|REF_RGD_ID:11552595 11813040 SFRP2 secreted frizzled related protein 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:1345643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18716850 11813040 SFRP2 secreted frizzled related protein 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1345643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 11813040 SFRP2 secreted frizzled related protein 2 gene DOID:4450 renal cell carcinoma ISO RGD:1345643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18404682 11813040 SFRP2 secreted frizzled related protein 2 gene DOID:5844 myocardial infarction ISO RGD:1550582 D RGD:9068941 20230204 RGD PMID:19079247|REF_RGD_ID:155883169 11813040 SFRP2 secreted frizzled related protein 2 gene DOID:5844 myocardial infarction ISO RGD:735163 D RGD:9068941 20200609 RGD PMID:19109969|REF_RGD_ID:4107088 11813040 SFRP2 secreted frizzled related protein 2 gene DOID:630 genetic disease ISO RGD:1345643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813040 SFRP2 secreted frizzled related protein 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:735163 D RGD:9068941 20200609 RGD PMID:19109969|REF_RGD_ID:4107088 11813040 SFRP2 secreted frizzled related protein 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1345643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17923031|PMID:18716850 11813040 SFRP2 secreted frizzled related protein 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1345643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18283316 11813047 LRRTM4 leucine rich repeat transmembrane neuronal 4 gene DOID:630 genetic disease ISO RGD:1352645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813056 TRIT1 tRNA isopentenyltransferase 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1312422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11813056 TRIT1 tRNA isopentenyltransferase 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11813056 TRIT1 tRNA isopentenyltransferase 1 gene DOID:0111464 combined oxidative phosphorylation deficiency 35 ISO RGD:1312422 D RGD:7240710 20190315 OMIM 11813056 TRIT1 tRNA isopentenyltransferase 1 gene DOID:0111464 combined oxidative phosphorylation deficiency 35 ISO RGD:1312422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 35 | ClinVar Annotator: match by term: TRIT1 Deficiency PMID:24901367|PMID:25741868|PMID:25954003|PMID:26381753|PMID:27618451|PMID:28185376|PMID:28490743|PMID:28492532|PMID:31140736|PMID:32324744 11813056 TRIT1 tRNA isopentenyltransferase 1 gene DOID:630 genetic disease ISO RGD:1312422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24901367|PMID:25741868|PMID:25954003|PMID:26381753|PMID:27618451|PMID:28185376|PMID:28490743|PMID:28492532|PMID:30977854|PMID:32324744 11813056 TRIT1 tRNA isopentenyltransferase 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:1312422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 11813056 TRIT1 tRNA isopentenyltransferase 1 gene DOID:9003816 Macrocephaly ISO RGD:1312422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868|PMID:30977854 11813099 TDGF1 teratocarcinoma-derived growth factor 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1352791 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11062482 11813099 TDGF1 teratocarcinoma-derived growth factor 1 gene DOID:14330 Parkinson's disease treatment ISO RGD:1617601 D RGD:9068941 20200609 RGD PMID:20641036|REF_RGD_ID:11561895 11813099 TDGF1 teratocarcinoma-derived growth factor 1 gene DOID:1682 congenital heart disease ISO RGD:1352791 D RGD:9068941 20200609 RGD DNA:mutations:3'UTR,exons: PMID:19853938|REF_RGD_ID:11561893 11813099 TDGF1 teratocarcinoma-derived growth factor 1 gene DOID:219 colon cancer treatment ISO RGD:1352791 D RGD:9068941 20200609 RGD PMID:15173016|REF_RGD_ID:11561894 11813099 TDGF1 teratocarcinoma-derived growth factor 1 gene DOID:3307 teratoma treatment ISO RGD:1617601 D RGD:9068941 20200609 RGD PMID:20641036|REF_RGD_ID:11561895 11813099 TDGF1 teratocarcinoma-derived growth factor 1 gene DOID:4621 holoprosencephaly ISO RGD:1352791 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12073012 11813099 TDGF1 teratocarcinoma-derived growth factor 1 gene DOID:630 genetic disease ISO RGD:1352791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813099 TDGF1 teratocarcinoma-derived growth factor 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1352791 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11813099 TDGF1 teratocarcinoma-derived growth factor 1 gene DOID:9003918 Forebrain Defects ISO RGD:1352791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Forebrain defects PMID:11062482|PMID:12073012 11813109 LOC100972845 transmembrane reductase CYB561D2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1353992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:24358150|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31785789|PMID:9536098 11813109 LOC100972845 transmembrane reductase CYB561D2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1353992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:24358150|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31785789|PMID:9536098 11813109 LOC100972845 transmembrane reductase CYB561D2 gene DOID:630 genetic disease ISO RGD:1353992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11813109 LOC100972845 transmembrane reductase CYB561D2 gene DOID:9009196 Cerebellar Atrophy with Seizures and Variable Developmental Delay ISO RGD:1353992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay PMID:25741868|PMID:28492532|PMID:29997391 11813125 CDH12 cadherin 12 gene DOID:630 genetic disease ISO RGD:1343875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813125 CDH12 cadherin 12 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343875 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 11813125 CDH12 cadherin 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11813138 PIGS phosphatidylinositol glycan anchor biosynthesis class S gene DOID:630 genetic disease ISO RGD:1354267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11813138 PIGS phosphatidylinositol glycan anchor biosynthesis class S gene DOID:9004284 Developmental and Epileptic Encephalopathy 95 ISO RGD:1354267 D RGD:7240710 20190315 OMIM 11813138 PIGS phosphatidylinositol glycan anchor biosynthesis class S gene DOID:9004284 Developmental and Epileptic Encephalopathy 95 ISO RGD:1354267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 18 PMID:25741868|PMID:30269814|PMID:33410539 11813154 WFDC5 WAP four-disulfide core domain 5 gene DOID:2234 focal epilepsy ISO RGD:1312741 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11813154 WFDC5 WAP four-disulfide core domain 5 gene DOID:630 genetic disease ISO RGD:1312741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813154 WFDC5 WAP four-disulfide core domain 5 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1312741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11813162 OCLN occludin gene DOID:0050656 pseudo-TORCH syndrome 1 ISO RGD:732985 D RGD:7240710 20180130 OMIM 11813162 OCLN occludin gene DOID:0050656 pseudo-TORCH syndrome 1 ISO RGD:732985 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pseudo-TORCH syndrome 1 PMID:18414213|PMID:19012351|PMID:20727516|PMID:25741868|PMID:28492532 11813162 OCLN occludin gene DOID:0080177 hepatic veno-occlusive disease ISO RGD:732985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17015055 11813162 OCLN occludin gene DOID:0081292 traumatic brain injury ISO RGD:732985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25668593 11813162 OCLN occludin gene DOID:10825 essential hypertension ISO RGD:732985 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 11813162 OCLN occludin gene DOID:13938 amenorrhea ISO RGD:732985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11813162 OCLN occludin gene DOID:14566 disease of cellular proliferation ISO RGD:732985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16982755 11813162 OCLN occludin gene DOID:3021 acute kidney failure ISO RGD:732985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19766176 11813162 OCLN occludin gene DOID:4481 allergic rhinitis ISO RGD:732985 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:33441633 11813162 OCLN occludin gene DOID:5679 retinal disease ISO RGD:732985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19324842 11813162 OCLN occludin gene DOID:630 genetic disease ISO RGD:732985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28386946|PMID:28492532 11813162 OCLN occludin gene DOID:8778 Crohn's disease ISO RGD:732985 D RGD:9068941 20200609 RGD PMID:21748286|REF_RGD_ID:11341809 11813162 OCLN occludin gene DOID:8947 diabetic retinopathy treatment ISO RGD:620089 D RGD:9068941 20200609 RGD PMID:25685822|REF_RGD_ID:11341734 11813162 OCLN occludin gene DOID:9002720 Splenomegaly ISO RGD:732985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17015055 11813162 OCLN occludin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11813162 OCLN occludin gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 11813162 OCLN occludin gene DOID:9007730 Burns ISO RGD:620089 D RGD:9068941 20200609 RGD associated with Binge Drinking;protein:decreased expression, decreased tyrosine, threonine phosphorylation:intestine mucosa: PMID:22001439|REF_RGD_ID:8655996 11813162 OCLN occludin gene DOID:9008086 Developmental Disabilities ISO RGD:732985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 11813162 OCLN occludin gene DOID:9008939 Breast Neoplasms ISO RGD:732985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17459053|PMID:24014025 11813175 VAV3 vav guanine nucleotide exchange factor 3 gene DOID:10763 hypertension ISO RGD:1343957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21115475 11813175 VAV3 vav guanine nucleotide exchange factor 3 gene DOID:12849 autistic disorder ISO RGD:1343957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11813175 VAV3 vav guanine nucleotide exchange factor 3 gene DOID:2986 IgA glomerulonephritis ISO RGD:1343957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25305756 11813175 VAV3 vav guanine nucleotide exchange factor 3 gene DOID:630 genetic disease ISO RGD:1343957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813175 VAV3 vav guanine nucleotide exchange factor 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17909013 11813175 VAV3 vav guanine nucleotide exchange factor 3 gene DOID:9002554 Tachycardia ISO RGD:1343957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21115475 11813175 VAV3 vav guanine nucleotide exchange factor 3 gene DOID:9006680 Hyperventilation ISO RGD:1343957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21115475 11813207 GPR35 G protein-coupled receptor 35 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1319732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11813207 GPR35 G protein-coupled receptor 35 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1319732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11813207 GPR35 G protein-coupled receptor 35 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1319732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 11813207 GPR35 G protein-coupled receptor 35 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1319732 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11813207 GPR35 G protein-coupled receptor 35 gene DOID:1059 intellectual disability ISO RGD:1319732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11813207 GPR35 G protein-coupled receptor 35 gene DOID:630 genetic disease ISO RGD:1319732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813207 GPR35 G protein-coupled receptor 35 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1319732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11813225 GTF2H4 general transcription factor IIH subunit 4 gene DOID:0050553 JMP syndrome ISO RGD:1352501 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11813225 GTF2H4 general transcription factor IIH subunit 4 gene DOID:11372 megacolon ISO RGD:1352501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11813225 GTF2H4 general transcription factor IIH subunit 4 gene DOID:630 genetic disease ISO RGD:1352501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813247 KCNU1 potassium calcium-activated channel subfamily U member 1 gene DOID:630 genetic disease ISO RGD:1348220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813247 KCNU1 potassium calcium-activated channel subfamily U member 1 gene DOID:9003192 Spermatogenic Failure 79 ISO RGD:1348220 D RGD:7240710 20230125 OMIM 11813247 KCNU1 potassium calcium-activated channel subfamily U member 1 gene DOID:9003192 Spermatogenic Failure 79 ISO RGD:1348220 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 79 PMID:34980136|PMID:35551387 11813247 KCNU1 potassium calcium-activated channel subfamily U member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1348220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 11813277 CDCA3 cell division cycle associated 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1345166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11813277 CDCA3 cell division cycle associated 3 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1345166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11813277 CDCA3 cell division cycle associated 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1345166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11813277 CDCA3 cell division cycle associated 3 gene DOID:0080600 COVID-19 ISO RGD:1345166 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11813277 CDCA3 cell division cycle associated 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1345166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11813277 CDCA3 cell division cycle associated 3 gene DOID:0110866 congenital stationary night blindness 1H ISO RGD:1345166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1H PMID:10477144|PMID:10523525|PMID:10770297|PMID:10770309|PMID:10770310|PMID:11322952|PMID:12668921|PMID:25741868|PMID:27063057|PMID:28492532|PMID:9425898 11813277 CDCA3 cell division cycle associated 3 gene DOID:0111621 Temtamy syndrome ISO RGD:1345166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11813277 CDCA3 cell division cycle associated 3 gene DOID:10825 essential hypertension ISO RGD:1345166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertension, essential, susceptibility to PMID:10477144|PMID:10523525|PMID:10770297|PMID:10770309|PMID:10770310|PMID:11322952|PMID:12668921|PMID:25741868|PMID:28492532|PMID:9425898 11813277 CDCA3 cell division cycle associated 3 gene DOID:630 genetic disease ISO RGD:1345166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11813277 CDCA3 cell division cycle associated 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1345166 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11813277 CDCA3 cell division cycle associated 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1345166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11813294 ITIH2 inter-alpha-trypsin inhibitor heavy chain 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1345234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11813294 ITIH2 inter-alpha-trypsin inhibitor heavy chain 2 gene DOID:630 genetic disease ISO RGD:1345234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813319 NXT1 nuclear transport factor 2 like export factor 1 gene DOID:630 genetic disease ISO RGD:1319614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813325 PPP1R12B protein phosphatase 1 regulatory subunit 12B gene DOID:0050938 breast lobular carcinoma ISO RGD:1319551 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 11813325 PPP1R12B protein phosphatase 1 regulatory subunit 12B gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1319551 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11813325 PPP1R12B protein phosphatase 1 regulatory subunit 12B gene DOID:1540 parathyroid carcinoma ISO RGD:1319551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11813325 PPP1R12B protein phosphatase 1 regulatory subunit 12B gene DOID:630 genetic disease ISO RGD:1319551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813325 PPP1R12B protein phosphatase 1 regulatory subunit 12B gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1319551 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11813325 PPP1R12B protein phosphatase 1 regulatory subunit 12B gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1319551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 11813325 PPP1R12B protein phosphatase 1 regulatory subunit 12B gene DOID:9004872 Congenital Infantile Lactic Acidosis ISO RGD:1319551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital lactic acidosis 11813325 PPP1R12B protein phosphatase 1 regulatory subunit 12B gene DOID:9008939 Breast Neoplasms ISO RGD:1319551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 11813325 PPP1R12B protein phosphatase 1 regulatory subunit 12B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11813383 LOC100970401 keratin-associated protein 16-1 gene DOID:630 genetic disease ISO RGD:1602313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813386 ZNF385D zinc finger protein 385D gene DOID:303 substance-related disorder ISO RGD:1354143 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11813386 ZNF385D zinc finger protein 385D gene DOID:630 genetic disease ISO RGD:1354143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813386 ZNF385D zinc finger protein 385D gene DOID:670 amphetamine abuse ISO RGD:1354143 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11813401 ADORA2A adenosine A2a receptor gene DOID:0050700 cardiomyopathy ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20363887 11813401 ADORA2A adenosine A2a receptor gene DOID:0060001 withdrawal disorder ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14756803|PMID:16226742|PMID:16470403 11813401 ADORA2A adenosine A2a receptor gene DOID:0060500 drug allergy ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19019667 11813401 ADORA2A adenosine A2a receptor gene DOID:10763 hypertension no_association ISO RGD:730999 D RGD:9068941 20200609 RGD PMID:15257174|REF_RGD_ID:1625367 11813401 ADORA2A adenosine A2a receptor gene DOID:11396 pulmonary edema ISO RGD:10092 D RGD:9068941 20200609 RGD associated with Reperfusion Injury PMID:19909990|REF_RGD_ID:4890361 11813401 ADORA2A adenosine A2a receptor gene DOID:11830 myopia ISO RGD:10092 D RGD:9068941 20220825 MouseDO OMIM:160700 | OMIM:255500 | OMIM:300613 | OMIM:310460 | OMIM:603221 | OMIM:608367 | OMIM:608474 | OMIM:608908 | OMIM:609256 | OMIM:609257 | OMIM:609258 | OMIM:609259 | OMIM:609994 | OMIM:609995 | OMIM:610320 | OMIM:612554 | OMIM:612717 | OMIM:613959 | OMIM:613969 | OMIM:614166 | OMIM:614167 | OMIM:615420 | OMIM:615431 | OMIM:615946 11813401 ADORA2A adenosine A2a receptor gene DOID:14557 primary pulmonary hypertension ISO RGD:10092 D RGD:9068941 20220825 MouseDO OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 11813401 ADORA2A adenosine A2a receptor gene DOID:1596 depressive disorder ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26860412 11813401 ADORA2A adenosine A2a receptor gene DOID:1826 epilepsy ISO RGD:730999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11813401 ADORA2A adenosine A2a receptor gene DOID:2030 anxiety disorder ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12825092|PMID:16118787|PMID:18305461|PMID:20532872 11813401 ADORA2A adenosine A2a receptor gene DOID:2799 bronchiolitis obliterans ISO RGD:10092 D RGD:9068941 20200609 RGD PMID:19766783|REF_RGD_ID:4890362 11813401 ADORA2A adenosine A2a receptor gene DOID:2841 asthma ISO RGD:10092 D RGD:9068941 20200609 RGD PMID:16339780|PMID:17293374|REF_RGD_ID:4890380|REF_RGD_ID:4890385 11813401 ADORA2A adenosine A2a receptor gene DOID:2841 asthma ISO RGD:10092 D RGD:9068941 20200609 RGD mRNA:decreased expression:aorta PMID:18310516|REF_RGD_ID:4890366 11813401 ADORA2A adenosine A2a receptor gene DOID:2841 asthma ISO RGD:730999 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:19019667|REF_RGD_ID:4890386 11813401 ADORA2A adenosine A2a receptor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:10092 D RGD:9068941 20200609 RGD PMID:16339780|REF_RGD_ID:4890385 11813401 ADORA2A adenosine A2a receptor gene DOID:480 movement disease ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26526685 11813401 ADORA2A adenosine A2a receptor gene DOID:5419 schizophrenia ISO RGD:730999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11813401 ADORA2A adenosine A2a receptor gene DOID:552 pneumonia ISO RGD:10092 D RGD:9068941 20200609 RGD PMID:17601796|REF_RGD_ID:4890376 11813401 ADORA2A adenosine A2a receptor gene DOID:552 pneumonia ISO RGD:10092 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell PMID:20798237|REF_RGD_ID:4890358 11813401 ADORA2A adenosine A2a receptor gene DOID:552 pneumonia ISO RGD:10092 D RGD:9068941 20200609 RGD associated with Lung Injury PMID:18703794|REF_RGD_ID:4890364 11813401 ADORA2A adenosine A2a receptor gene DOID:594 panic disorder ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12825092 11813401 ADORA2A adenosine A2a receptor gene DOID:630 genetic disease ISO RGD:730999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813401 ADORA2A adenosine A2a receptor gene DOID:670 amphetamine abuse ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20799992 11813401 ADORA2A adenosine A2a receptor gene DOID:7148 rheumatoid arthritis ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 11813401 ADORA2A adenosine A2a receptor gene DOID:850 lung disease ISO RGD:10092 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:17617618|REF_RGD_ID:4890370 11813401 ADORA2A adenosine A2a receptor gene DOID:850 lung disease ISO RGD:2049 D RGD:9068941 20200609 RGD Ventilator-Induced Lung Injury PMID:19487932|REF_RGD_ID:4890363 11813401 ADORA2A adenosine A2a receptor gene DOID:850 lung disease ISO RGD:2049 D RGD:9068941 20200609 RGD associated with Shock PMID:16484904|REF_RGD_ID:4890383 11813401 ADORA2A adenosine A2a receptor gene DOID:8646 substance-induced psychosis ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20799992 11813401 ADORA2A adenosine A2a receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:2049 D RGD:9068941 20200609 RGD PMID:17559837|REF_RGD_ID:4890378 11813401 ADORA2A adenosine A2a receptor gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19019667 11813401 ADORA2A adenosine A2a receptor gene DOID:9000495 Tremor ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16780890 11813401 ADORA2A adenosine A2a receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16783407 11813401 ADORA2A adenosine A2a receptor gene DOID:9001981 Weight Loss ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26526685 11813401 ADORA2A adenosine A2a receptor gene DOID:9002362 Hyperkinesis ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15187444 11813401 ADORA2A adenosine A2a receptor gene DOID:9004009 Reperfusion Injury ISO RGD:2049 D RGD:9068941 20200609 RGD PMID:17937935|REF_RGD_ID:4890367 11813401 ADORA2A adenosine A2a receptor gene DOID:9004009 Reperfusion Injury ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27757725 11813401 ADORA2A adenosine A2a receptor gene DOID:9004484 Sepsis ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27757725 11813401 ADORA2A adenosine A2a receptor gene DOID:9004576 Sleep Initiation and Maintenance Disorders ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20532872 11813401 ADORA2A adenosine A2a receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2049 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:16256246|REF_RGD_ID:2313805 11813401 ADORA2A adenosine A2a receptor gene DOID:9006024 Hypotension ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15641640|PMID:1592228|PMID:18313046 11813401 ADORA2A adenosine A2a receptor gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15641640 11813401 ADORA2A adenosine A2a receptor gene DOID:9007039 Ventricular Dysfunction ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15641640 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0050214 Lambert-Eaton myasthenic syndrome ISO RGD:10265 D RGD:9068941 20220825 MouseDO 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0050704 childhood electroclinical syndrome ISO RGD:10265 D RGD:9068941 20220825 MouseDO 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0050753 cerebellar ataxia ISO RGD:735950 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:10371528|PMID:15173248|PMID:19486177|PMID:25735478|PMID:25741868|PMID:26467025|PMID:27066515|PMID:27250579|PMID:27400454|PMID:28252636|PMID:28492532|PMID:31440721|PMID:31719132|PMID:35401678 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0050835 generalized dystonia ISO RGD:10265 D RGD:9068941 20220825 MouseDO 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0050858 Marshall-Smith syndrome ISO RGD:735950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marshall-Smith syndrome PMID:20673863|PMID:23495138|PMID:25118028|PMID:25736188|PMID:26927468|PMID:27688808|PMID:28492532|PMID:29184170 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0050952 spastic ataxia ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:26467025 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0050956 spinocerebellar ataxia type 6 ISO RGD:735950 D RGD:7240710 20180130 OMIM 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0050956 spinocerebellar ataxia type 6 ISO RGD:735950 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 6 PMID:10371528|PMID:10408534|PMID:10734061|PMID:10987655|PMID:11176968|PMID:11439943|PMID:11742003|PMID:12056940|PMID:12707077|PMID:14718690|PMID:15173248|PMID:15240985|PMID:15452324|PMID:15985579|PMID:16306128|PMID:16325861|PMID:16787562|PMID:17142831|PMID:18056581|PMID:18354422|PMID:18434528|PMID:18437043|PMID:18597946|PMID:19344873|PMID:19486177|PMID:19624685|PMID:19811514|PMID:20097664|PMID:20301562|PMID:20301674|PMID:20837964|PMID:21183743|PMID:22249839|PMID:22527033|PMID:23407676|PMID:23831250|PMID:24486772|PMID:24498617|PMID:25326635|PMID:25481746|PMID:25596066|PMID:25735478|PMID:25741868|PMID:25758715|PMID:25969684|PMID:26467025|PMID:26814174|PMID:26912519|PMID:27066515|PMID:27250579|PMID:27400454|PMID:27959697|PMID:28007337|PMID:28252636|PMID:28444220|PMID:28492532|PMID:28742085|PMID:28900389|PMID:28978442|PMID:29053796|PMID:29056246|PMID:29062094|PMID:29100083|PMID:29165669|PMID:29444203|PMID:29482223|PMID:29997391|PMID:30011838|PMID:30063100|PMID:30142438|PMID:30283815|PMID:31115040|PMID:31139143|PMID:31468518|PMID:31487502|PMID:31719132|PMID:32170034|PMID:33425808|PMID:33737904|PMID:34102571|PMID:35401678|PMID:9345107 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0050990 episodic ataxia type 2 ISO RGD:735950 D RGD:7240710 20180130 OMIM 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0050990 episodic ataxia type 2 ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia, paroxysmal, Acetazolamide-responsive | ClinVar Annotator: match by term: Episodic ataxia type 2 | ClinVar Annotator: match by term: Episodic ataxia with nystagmus | ClinVar Annotator: match by term: Episodic ataxia, type 2, and epilepsy PMID:10024348|PMID:10371528|PMID:10408532|PMID:10408533|PMID:10408534|PMID:10699052|PMID:10734061|PMID:10987655|PMID:11176968|PMID:11179022|PMID:11370629|PMID:11409427|PMID:11439943|PMID:11564488|PMID:11723274|PMID:11742003|PMID:11809294|PMID:11814735|PMID:11854167|PMID:11971066|PMID:12056940|PMID:12235360|PMID:12420090|PMID:12707077|PMID:12756131|PMID:14530926|PMID:14718690|PMID:15003170|PMID:15173248|PMID:15240985|PMID:15452324|PMID:15483044|PMID:15622542|PMID:15795222|PMID:15985579|PMID:16043807|PMID:16199547|PMID:16325861|PMID:16602100|PMID:16787562|PMID:16866717|PMID:17119788|PMID:17142831|PMID:17292920|PMID:17495624|PMID:17576681|PMID:17588611|PMID:18056581|PMID:18313928|PMID:18354422|PMID:18434528|PMID:1849839|PMID:18513263|PMID:18541804|PMID:18606230|PMID:18644040|PMID:18940563|PMID:19232643|PMID:19344873|PMID:19484318|PMID:19486177|PMID:19520699|PMID:19586927|PMID:19624685|PMID:19633872|PMID:19811514|PMID:19864665|PMID:20080591|PMID:20097664|PMID:20129625|PMID:20156848|PMID:20301562|PMID:20301674|PMID:20396531|PMID:20663518|PMID:20682717|PMID:20837964|PMID:21183743|PMID:21431381|PMID:21454563|PMID:21703448|PMID:21734179|PMID:21927611|PMID:22000314|PMID:22190617|PMID:22249839|PMID:22527033|PMID:22784462|PMID:22942164|PMID:22969264|PMID:23038654|PMID:23071170|PMID:23103419|PMID:23183922|PMID:23344743|PMID:23397224|PMID:23407676|PMID:23831250|PMID:23869231|PMID:23934111|PMID:24033266|PMID:24091540|PMID:24108129|PMID:24270521|PMID:24420976|PMID:24486772|PMID:24498617|PMID:24658662|PMID:24664531|PMID:24996492|PMID:25266619|PMID:25274239|PMID:25274781|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25481746|PMID:25596066|PMID:25640679|PMID:25735478|PMID:25741868|PMID:25758715|PMID:25819952|PMID:25851414|PMID:25969684|PMID:26423924|PMID:26467025|PMID:26633542|PMID:26716990|PMID:26795593|PMID:26814174|PMID:26912519|PMID:27066515|PMID:27165006|PMID:27250579|PMID:27290639|PMID:27400454|PMID:27476654|PMID:27667184|PMID:27871455|PMID:27959697|PMID:28007337|PMID:28166811|PMID:28169007|PMID:28431595|PMID:28444220|PMID:28455667|PMID:28492532|PMID:28540055|PMID:28566750|PMID:28742085|PMID:28900389|PMID:28978442|PMID:29056246|PMID:29100083|PMID:29165669|PMID:29186148|PMID:29343472|PMID:29389947|PMID:29444203|PMID:29482223|PMID:29908077|PMID:29915382|PMID:29924869|PMID:29997391|PMID:30011838|PMID:30063100|PMID:30142438|PMID:30167989|PMID:30185235|PMID:30283815|PMID:30692599|PMID:30891074|PMID:31015257|PMID:31139143|PMID:31288946|PMID:31468518|PMID:31487502|PMID:31618753|PMID:31719132|PMID:32238909|PMID:32581362|PMID:33349592|PMID:8734765|PMID:8898206|PMID:9005860|PMID:9329229|PMID:9345107|PMID:9488686|PMID:9536098|PMID:9600739|PMID:97053792|PMID:9915947 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0050990 episodic ataxia type 2 ISO RGD:735950 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia, paroxysmal, Acetazolamide-responsive | ClinVar Annotator: match by term: Episodic ataxia type 2 | ClinVar Annotator: match by term: Episodic ataxia, type 2, and epilepsy PMID:10024348|PMID:10371528|PMID:10408532|PMID:10408533|PMID:10408534|PMID:10699052|PMID:10734061|PMID:10987655|PMID:11176968|PMID:11179022|PMID:11370629|PMID:11409427|PMID:11439943|PMID:11564488|PMID:11723274|PMID:11742003|PMID:11809294|PMID:11814735|PMID:11854167|PMID:11971066|PMID:12056940|PMID:12235360|PMID:12420090|PMID:12707077|PMID:12756131|PMID:14530926|PMID:14592859|PMID:14694040|PMID:14718690|PMID:15003170|PMID:15173248|PMID:15240985|PMID:15452324|PMID:15483044|PMID:15622542|PMID:15743764|PMID:15795222|PMID:15985579|PMID:16043807|PMID:16186543|PMID:16199547|PMID:16306128|PMID:16325861|PMID:16508934|PMID:16583725|PMID:16602100|PMID:16787562|PMID:16866717|PMID:17119788|PMID:17142831|PMID:17292920|PMID:17495624|PMID:17576681|PMID:17588611|PMID:18056581|PMID:18313928|PMID:18354422|PMID:18434528|PMID:18437043|PMID:1849839|PMID:18513263|PMID:18541804|PMID:18581134|PMID:18597946|PMID:18606230|PMID:18644040|PMID:18940563|PMID:19232643|PMID:19242091|PMID:19344873|PMID:19484318|PMID:19486177|PMID:19520699|PMID:19586927|PMID:19624685|PMID:19633872|PMID:19811514|PMID:19864665|PMID:20080591|PMID:20097664|PMID:20129625|PMID:20156848|PMID:20301562|PMID:20301674|PMID:20396531|PMID:20663518|PMID:20682717|PMID:20837964|PMID:21183743|PMID:21431381|PMID:21703448|PMID:21734179|PMID:21927611|PMID:22000314|PMID:22190617|PMID:22249839|PMID:22527033|PMID:22784462|PMID:22942164|PMID:22969264|PMID:23038654|PMID:23071170|PMID:23103419|PMID:23183922|PMID:23344743|PMID:23397224|PMID:23407676|PMID:23831250|PMID:23869231|PMID:23934111|PMID:24033266|PMID:24046065|PMID:24091540|PMID:24108129|PMID:24270521|PMID:24420976|PMID:24445160|PMID:24486772|PMID:24498617|PMID:24658662|PMID:24664531|PMID:24996492|PMID:25266619|PMID:25274239|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25481746|PMID:25525159|PMID:25596066|PMID:25640679|PMID:25716839|PMID:25735478|PMID:25741868|PMID:25758715|PMID:25784583|PMID:25819952|PMID:25851414|PMID:25969684|PMID:26423924|PMID:26467025|PMID:26633542|PMID:26716990|PMID:26795593|PMID:26814174|PMID:26912519|PMID:27066515|PMID:27165006|PMID:27250579|PMID:27290639|PMID:27400454|PMID:27476654|PMID:27667184|PMID:27871455|PMID:27959697|PMID:27965395|PMID:28007337|PMID:28169007|PMID:28252636|PMID:28431595|PMID:28444220|PMID:28455667|PMID:28492532|PMID:28566750|PMID:28742085|PMID:28900389|PMID:28927557|PMID:28978442|PMID:29056246|PMID:29062094|PMID:29100083|PMID:29165669|PMID:29184170|PMID:29186148|PMID:29276004|PMID:29343472|PMID:29389947|PMID:29444203|PMID:29482223|PMID:29883219|PMID:29908077|PMID:29915382|PMID:29924869|PMID:29997391|PMID:30011838|PMID:30063100|PMID:30142438|PMID:30167989|PMID:30185235|PMID:30283815|PMID:30301590|PMID:30692599|PMID:30891074|PMID:31015257|PMID:31115040|PMID:31139143|PMID:31164858|PMID:31288946|PMID:31440721|PMID:31468518|PMID:31487502|PMID:31618753|PMID:31719132|PMID:31810576|PMID:31915071|PMID:32116539|PMID:32170034|PMID:32238909|PMID:32581362|PMID:32910250|PMID:33121221|PMID:33233562|PMID:33278787|PMID:33349592|PMID:33425808|PMID:34085110|PMID:34102571|PMID:34320921|PMID:34436362|PMID:34631621|PMID:35401678|PMID:35600082|PMID:35837781|PMID:8734765|PMID:8898206|PMID:9005860|PMID:9329229|PMID:9345107|PMID:9488686|PMID:9536098|PMID:9600739|PMID:97053792|PMID:9915947 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0060041 autism spectrum disorder ISO RGD:735950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0060178 familial hemiplegic migraine ISO RGD:735950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:10024348|PMID:10408532|PMID:10408534|PMID:10734061|PMID:10987655|PMID:11176968|PMID:11409427|PMID:11439943|PMID:11814735|PMID:11971066|PMID:12056940|PMID:12235360|PMID:12707077|PMID:12756131|PMID:14718690|PMID:15743764|PMID:15795222|PMID:16508934|PMID:17142831|PMID:18056581|PMID:18313928|PMID:18581134|PMID:19242091|PMID:19520699|PMID:19624685|PMID:20301562|PMID:20837964|PMID:22000314|PMID:22190617|PMID:22527033|PMID:22969264|PMID:23407676|PMID:23934111|PMID:24270521|PMID:24486772|PMID:24498617|PMID:25266619|PMID:25274239|PMID:25716839|PMID:25741868|PMID:25969684|PMID:26467025|PMID:26814174|PMID:27066515|PMID:27290639|PMID:28169007|PMID:28492532|PMID:28900389|PMID:29444203|PMID:8734765|PMID:8898206|PMID:9488686|PMID:9566402|PMID:97053792|PMID:9915947 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0080454 developmental and epileptic encephalopathy 42 ISO RGD:735950 D RGD:7240710 20190315 OMIM 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0080454 developmental and epileptic encephalopathy 42 ISO RGD:735950 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42 PMID:10024348|PMID:10371528|PMID:10408533|PMID:10455105|PMID:10987655|PMID:11409427|PMID:11439943|PMID:11814735|PMID:11971066|PMID:12056940|PMID:12420090|PMID:12756131|PMID:14718690|PMID:15136697|PMID:15240985|PMID:15452324|PMID:15743764|PMID:15795222|PMID:16043807|PMID:16199547|PMID:16325861|PMID:16508934|PMID:16787562|PMID:17576681|PMID:18313928|PMID:18354422|PMID:18437043|PMID:18581134|PMID:18597946|PMID:18606230|PMID:19486177|PMID:19520699|PMID:19811514|PMID:20097664|PMID:20129625|PMID:20156848|PMID:20301562|PMID:20301674|PMID:20396531|PMID:20682717|PMID:20837964|PMID:21183743|PMID:22000314|PMID:22190617|PMID:22249839|PMID:22969264|PMID:23831250|PMID:23934111|PMID:24091540|PMID:24108129|PMID:24270521|PMID:24486772|PMID:25266619|PMID:25274239|PMID:25326635|PMID:25356970|PMID:25481746|PMID:25596066|PMID:25735478|PMID:25741868|PMID:25758715|PMID:26467025|PMID:26814174|PMID:27066515|PMID:27250579|PMID:27290639|PMID:27476654|PMID:27959697|PMID:28007337|PMID:28169007|PMID:28455667|PMID:28492532|PMID:28566750|PMID:28742085|PMID:29056246|PMID:29100083|PMID:29186148|PMID:29486580|PMID:29915382|PMID:29997391|PMID:30011838|PMID:30063100|PMID:30142438|PMID:30167989|PMID:30283815|PMID:31015257|PMID:31115040|PMID:31139143|PMID:31440721|PMID:31468518|PMID:31487502|PMID:31618753|PMID:32116539|PMID:32170034|PMID:32238909|PMID:32581362|PMID:32860008|PMID:32901917|PMID:32910250|PMID:33278787|PMID:33349592|PMID:33425808|PMID:34102571|PMID:34531397|PMID:35600082|PMID:35837781|PMID:8898206|PMID:9488686|PMID:9536098|PMID:97053792|PMID:9915947 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0080455 developmental and epileptic encephalopathy 52 ISO RGD:735950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 52 PMID:11439943|PMID:18437043|PMID:19344873|PMID:25741868|PMID:28492532|PMID:29165669|PMID:30063100|PMID:32170034 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:735950 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868|PMID:28492532 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:735950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0111181 familial hemiplegic migraine 1 ISO RGD:735950 D RGD:7240710 20180130 OMIM 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0111181 familial hemiplegic migraine 1 ISO RGD:735950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Migraine, familial hemiplegic 1, with progressive cerebellar ataxia | ClinVar Annotator: match by term: Migraine, familial hemiplegic, 1 | ClinVar Annotator: match by term: Migraine, sporadic hemiplegic, with progressive cerebellar ataxia | ClinVar Annotator: match by term: Sporadic hemiplegic migraine PMID:10024348|PMID:10408532|PMID:10408534|PMID:10734061|PMID:10987655|PMID:11061267|PMID:11176968|PMID:11409427|PMID:11439943|PMID:11814735|PMID:11960817|PMID:11971066|PMID:12056940|PMID:12111613|PMID:12235360|PMID:12707077|PMID:12756131|PMID:14718690|PMID:15032980|PMID:15240985|PMID:15452324|PMID:15743764|PMID:15795222|PMID:16043807|PMID:16508934|PMID:17142831|PMID:18056581|PMID:18313928|PMID:18400034|PMID:18437043|PMID:18581134|PMID:19242091|PMID:19344873|PMID:19520699|PMID:19586927|PMID:19624685|PMID:20129625|PMID:20301562|PMID:20837964|PMID:22000314|PMID:22190617|PMID:22249839|PMID:22527033|PMID:22969264|PMID:23407676|PMID:23934111|PMID:23961289|PMID:24270521|PMID:24486772|PMID:24498617|PMID:25266619|PMID:25274239|PMID:25326635|PMID:25716839|PMID:25741868|PMID:25969684|PMID:26467025|PMID:26814174|PMID:27066515|PMID:27290639|PMID:27959697|PMID:28007337|PMID:28169007|PMID:28492532|PMID:28566750|PMID:28900389|PMID:28978442|PMID:29056246|PMID:29100083|PMID:29165669|PMID:29444203|PMID:30063100|PMID:30283815|PMID:31468518|PMID:31487502|PMID:32170034|PMID:34436362|PMID:7537420|PMID:8734765|PMID:8898206|PMID:9488686|PMID:9566402|PMID:97053792|PMID:9915947 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0111254 glutaric acidemia I ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:10024 migraine with aura ISO RGD:735950 D RGD:9068941 20200609 RGD DNA:mutation:cds:P.V1457L(human) PMID:10408532|REF_RGD_ID:10054422 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:10024 migraine with aura ISO RGD:735950 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:35115687 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:1059 intellectual disability ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20156848|PMID:24108129|PMID:25356970|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30167989 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:11832 visual epilepsy ISO RGD:10265 D RGD:9068941 20220728 RGD PMID:9060410|REF_RGD_ID:10054423 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:12849 autistic disorder ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:13641 exfoliation syndrome ISO RGD:735950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25706626 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:1825 childhood absence epilepsy ISO RGD:2244 D RGD:9068941 20200609 RGD DNA:mutation:cds:752T>A (p.M251K)(rat) PMID:17196942|REF_RGD_ID:1598976 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:1825 childhood absence epilepsy ISO RGD:735950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17196942 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:1826 epilepsy ISO RGD:735950 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:26467025|PMID:28492532 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:1923 disorder of sexual development ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:1969 cerebral palsy ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:332 amyotrophic lateral sclerosis ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:3328 temporal lobe epilepsy ISO RGD:2244 D RGD:9068941 20200609 RGD PMID:10448056|REF_RGD_ID:10054441 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:3413 alpha-mannosidosis ISO RGD:735950 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:5077 subependymal giant cell astrocytoma ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Subependymal giant-cell astrocytoma PMID:28492532 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:630 genetic disease ISO RGD:735950 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10024348|PMID:10371528|PMID:10408532|PMID:10408533|PMID:10734061|PMID:10987655|PMID:11439943|PMID:11564488|PMID:11723274|PMID:11814735|PMID:11971066|PMID:12056940|PMID:12707077|PMID:12756131|PMID:14592859|PMID:14694040|PMID:14718690|PMID:15003170|PMID:15173248|PMID:15240985|PMID:15452324|PMID:15483044|PMID:15710862|PMID:15795222|PMID:16043807|PMID:16199547|PMID:16306128|PMID:16325861|PMID:16508934|PMID:16787562|PMID:16866717|PMID:17292920|PMID:17495624|PMID:17576681|PMID:17588611|PMID:18354422|PMID:18437043|PMID:1849839|PMID:18513263|PMID:18644040|PMID:18940563|PMID:19344873|PMID:19484318|PMID:19486177|PMID:19811514|PMID:20080591|PMID:20097664|PMID:20129625|PMID:20156848|PMID:20301562|PMID:20301674|PMID:20837964|PMID:21183743|PMID:21703448|PMID:21734179|PMID:22000314|PMID:22190617|PMID:22249839|PMID:22784462|PMID:22969264|PMID:23103419|PMID:23183922|PMID:23397224|PMID:23831250|PMID:23869231|PMID:23934111|PMID:24033266|PMID:24046065|PMID:24108129|PMID:24270521|PMID:24486772|PMID:24996492|PMID:25266619|PMID:25274239|PMID:25326635|PMID:25356970|PMID:25481746|PMID:25525159|PMID:25596066|PMID:25735478|PMID:25741868|PMID:25758715|PMID:25819952|PMID:25851414|PMID:26467025|PMID:26716990|PMID:26795593|PMID:26814174|PMID:27066515|PMID:27250579|PMID:27290639|PMID:27400454|PMID:27476654|PMID:27580036|PMID:27959697|PMID:28007337|PMID:28169007|PMID:28252636|PMID:28455667|PMID:28492532|PMID:28566750|PMID:28742085|PMID:29056246|PMID:29062094|PMID:29100083|PMID:29165669|PMID:29186148|PMID:29276004|PMID:29883219|PMID:29908077|PMID:29924869|PMID:30011838|PMID:30063100|PMID:30142438|PMID:30167989|PMID:30283815|PMID:31139143|PMID:31468518|PMID:31487502|PMID:31618753|PMID:31719132|PMID:32170034|PMID:32910250|PMID:34102571|PMID:35401678|PMID:8898206|PMID:9329229|PMID:9488686|PMID:9536098|PMID:97053792|PMID:9915947 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:6364 migraine ISO RGD:735950 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Migraine PMID:22249839|PMID:25741868|PMID:27959697|PMID:28007337|PMID:28492532|PMID:29056246|PMID:29100083|PMID:30283815|PMID:31468518|PMID:31487502 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:681 progressive bulbar palsy ISO RGD:735950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bulbar palsy PMID:10371528|PMID:12420090|PMID:19486177|PMID:20129625|PMID:20396531|PMID:25735478|PMID:25741868|PMID:26467025|PMID:27250579|PMID:28492532|PMID:28566750|PMID:32581362|PMID:33425808|PMID:35837781 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:8725 vascular dementia ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:25741868|PMID:33268848 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:9001793 Generalized Epilepsy ISO RGD:735950 D RGD:9068941 20200609 RGD PMID:11342703|REF_RGD_ID:734669 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:735950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11985388|PMID:16899342 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:735950 D RGD:9068941 20200609 RGD DNA:repeats:cds: PMID:8988170|REF_RGD_ID:10054466 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:735950 D RGD:9068941 20200609 RGD protein:altered expression:Purkinje cell: PMID:10369863|REF_RGD_ID:10054421 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:9002121 Spinocerebellar Ataxias onset ISO RGD:735950 D RGD:9068941 20200609 RGD DNA:repeats:cds: PMID:10945665|REF_RGD_ID:1358570 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:9004866 Ataxia ISO RGD:10265 D RGD:9068941 20200609 RGD PMID:9060410|REF_RGD_ID:10054423 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:9004866 Ataxia ISO RGD:735950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17376154 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:9005532 Muscle Weakness ISO RGD:735950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868|PMID:26467025|PMID:28492532 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:9006534 Nervous System Malformations ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:23934111|PMID:25741868|PMID:27476654|PMID:28455667|PMID:28492532|PMID:29186148 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:9007 sudden infant death syndrome ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868|PMID:28492532 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:9007552 Sporadic Hemiplegic Migraine ISO RGD:735950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sporadic hemiplegic migraine PMID:10408534|PMID:10734061|PMID:11176968|PMID:11439943|PMID:12056940|PMID:12707077|PMID:17142831|PMID:18056581|PMID:19624685|PMID:20301562|PMID:20837964|PMID:22527033|PMID:23407676|PMID:24486772|PMID:24498617|PMID:25741868|PMID:25969684|PMID:26467025|PMID:26814174|PMID:27066515|PMID:28492532|PMID:28900389|PMID:29444203 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:9008086 Developmental Disabilities ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16325861|PMID:16787562|PMID:18354422|PMID:20301674|PMID:24486772|PMID:25326635|PMID:25481746|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28742085|PMID:30011838 11813415 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:963 episodic ataxia ISO RGD:735950 D RGD:8554872 20220628 ClinVar ClinVar Annotator: match by term: Hereditary episodic ataxia PMID:28492532 11813468 ATP5MJ ATP synthase membrane subunit j gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1352128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11813476 INSYN2B inhibitory synaptic factor family member 2B gene DOID:0111951 immunodeficiency 40 ISO RGD:3497372 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:25741868|PMID:26083206|PMID:28492532 11813476 INSYN2B inhibitory synaptic factor family member 2B gene DOID:630 genetic disease ISO RGD:3497372 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813484 NMD3 NMD3 ribosome export adaptor gene DOID:10283 prostate cancer ISO RGD:1348373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11813484 NMD3 NMD3 ribosome export adaptor gene DOID:630 genetic disease ISO RGD:1348373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813507 LPAR5 lysophosphatidic acid receptor 5 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1348840 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11813507 LPAR5 lysophosphatidic acid receptor 5 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1348840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11813507 LPAR5 lysophosphatidic acid receptor 5 gene DOID:0111621 Temtamy syndrome ISO RGD:1348840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11813507 LPAR5 lysophosphatidic acid receptor 5 gene DOID:630 genetic disease ISO RGD:1348840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813507 LPAR5 lysophosphatidic acid receptor 5 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1348840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11813522 TRO trophinin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11813522 TRO trophinin gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1605121 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 11813522 TRO trophinin gene DOID:12849 autistic disorder ISO RGD:1605121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11813522 TRO trophinin gene DOID:630 genetic disease ISO RGD:1605121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813540 PSMD2 proteasome 26S subunit ubiquitin receptor, non-ATPase 2 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1313972 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11813540 PSMD2 proteasome 26S subunit ubiquitin receptor, non-ATPase 2 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1313972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11813540 PSMD2 proteasome 26S subunit ubiquitin receptor, non-ATPase 2 gene DOID:0111546 Currarino syndrome ISO RGD:1313972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11813540 PSMD2 proteasome 26S subunit ubiquitin receptor, non-ATPase 2 gene DOID:630 genetic disease ISO RGD:1313972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813565 LDB2 LIM domain binding 2 gene DOID:630 genetic disease ISO RGD:1317395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813596 C15H15orf62 chromosome 15 C15orf62 homolog gene DOID:2717 Bloom syndrome ISO RGD:2299194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11813596 C15H15orf62 chromosome 15 C15orf62 homolog gene DOID:9256 colorectal cancer ISO RGD:2299194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11813601 LRRC8A leucine rich repeat containing 8 VRAC subunit A gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1323279 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11813601 LRRC8A leucine rich repeat containing 8 VRAC subunit A gene DOID:0080588 agammaglobulinemia 5 ISO RGD:1323279 D RGD:7240710 20190327 OMIM 11813601 LRRC8A leucine rich repeat containing 8 VRAC subunit A gene DOID:0080588 agammaglobulinemia 5 ISO RGD:1323279 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 5, autosomal dominant PMID:24033266|PMID:25741868|PMID:28492532 11813601 LRRC8A leucine rich repeat containing 8 VRAC subunit A gene DOID:2583 agammaglobulinemia ISO RGD:1323279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11813601 LRRC8A leucine rich repeat containing 8 VRAC subunit A gene DOID:2583 agammaglobulinemia ISO RGD:1323279 D RGD:9068941 20200609 RGD PMID:14660746|REF_RGD_ID:1599837 11813601 LRRC8A leucine rich repeat containing 8 VRAC subunit A gene DOID:630 genetic disease ISO RGD:1323279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11813625 CCDC169 coiled-coil domain containing 169 gene DOID:630 genetic disease ISO RGD:2302126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813653 APOBEC3H apolipoprotein B mRNA editing enzyme catalytic subunit 3H gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1604731 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11813653 APOBEC3H apolipoprotein B mRNA editing enzyme catalytic subunit 3H gene DOID:630 genetic disease ISO RGD:1604731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813653 APOBEC3H apolipoprotein B mRNA editing enzyme catalytic subunit 3H gene DOID:9006623 Murine Acquired Immunodeficiency Syndrome disease_progression ISO RGD:1317203 D RGD:9068941 20201211 RGD associated with Arterivirus Infections PMID:23725696|REF_RGD_ID:40902617 11813669 FOXN1 forkhead box N1 gene DOID:0060769 T-cell immunodeficiency, congenital alopecia, and nail dystrophy ISO RGD:1349825 D RGD:7240710 20180130 OMIM 11813669 FOXN1 forkhead box N1 gene DOID:0060769 T-cell immunodeficiency, congenital alopecia, and nail dystrophy ISO RGD:1349825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, congenital alopecia, and nail dystrophy PMID:10206641|PMID:15180707|PMID:15897400|PMID:16199547|PMID:17576681|PMID:18339010|PMID:20864124|PMID:20978268|PMID:21507891|PMID:24033266|PMID:25173801|PMID:25741868|PMID:27484032|PMID:28492532|PMID:28636882|PMID:31447097|PMID:31566583|PMID:33464451|PMID:8911612|PMID:9536098 11813669 FOXN1 forkhead box N1 gene DOID:11198 DiGeorge syndrome ISO RGD:11489 D RGD:9068941 20220825 MouseDO OMIM:188400 11813669 FOXN1 forkhead box N1 gene DOID:11200 T cell deficiency ISO RGD:1349825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: T-lymphocyte deficiency PMID:10206641|PMID:15180707|PMID:28492532|PMID:31447097|PMID:31566583 11813669 FOXN1 forkhead box N1 gene DOID:12849 autistic disorder ISO RGD:1349825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 11813669 FOXN1 forkhead box N1 gene DOID:4123 nail disease ISO RGD:1349825 D RGD:9068941 20200609 RGD T-cell immunodeficiency, congenital alopecia, and nail dystrophy, OMIM:601705 PMID:10206641|REF_RGD_ID:1599846 11813669 FOXN1 forkhead box N1 gene DOID:612 primary immunodeficiency disease ISO RGD:1349825 D RGD:9068941 20200609 RGD T-cell immunodeficiency, congenital alopecia, and nail dystrophy, OMIM:601705 PMID:10206641|REF_RGD_ID:1599846 11813669 FOXN1 forkhead box N1 gene DOID:630 genetic disease ISO RGD:1349825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11813669 FOXN1 forkhead box N1 gene DOID:9002651 T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT ISO RGD:1349825 D RGD:7240710 20200826 OMIM 11813669 FOXN1 forkhead box N1 gene DOID:9002651 T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT ISO RGD:1349825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant PMID:10206641|PMID:15180707|PMID:15897400|PMID:18339010|PMID:20864124|PMID:20978268|PMID:21507891|PMID:25741868|PMID:28492532|PMID:28636882|PMID:31447097|PMID:31566583|PMID:33464451|PMID:8911612 11813669 FOXN1 forkhead box N1 gene DOID:9004911 Thymus Hyperplasia ISO RGD:3970 D RGD:9068941 20200609 RGD PMID:26931321|REF_RGD_ID:11568681 11813669 FOXN1 forkhead box N1 gene DOID:987 alopecia ISO RGD:1349825 D RGD:9068941 20200609 RGD T-cell immunodeficiency, congenital alopecia, and nail dystrophy, OMIM:601705 PMID:10206641|REF_RGD_ID:1599846 11813686 GRPR gastrin releasing peptide receptor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11813686 GRPR gastrin releasing peptide receptor gene DOID:12849 autistic disorder ISO RGD:731959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11813686 GRPR gastrin releasing peptide receptor gene DOID:630 genetic disease ISO RGD:731959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813686 GRPR gastrin releasing peptide receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:731959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17204703 11813686 GRPR gastrin releasing peptide receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11813686 GRPR gastrin releasing peptide receptor gene DOID:9008023 Memory Disorders ISO RGD:731959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17097693 11813693 DR1 down-regulator of transcription 1 gene DOID:630 genetic disease ISO RGD:1313088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813709 BLOC1S1 biogenesis of lysosomal organelles complex 1 subunit 1 gene DOID:630 genetic disease ISO RGD:1316833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813717 TFDP1 transcription factor Dp-1 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1346598 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 11813717 TFDP1 transcription factor Dp-1 gene DOID:2222 factor X deficiency ISO RGD:1346598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 11813717 TFDP1 transcription factor Dp-1 gene DOID:630 genetic disease ISO RGD:1346598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813717 TFDP1 transcription factor Dp-1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1346598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11813745 NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1350455 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:10080174|PMID:11349233|PMID:11494300|PMID:14662656|PMID:15576045|PMID:17576681|PMID:19073330|PMID:20818383|PMID:21364701|PMID:21696386|PMID:22644603|PMID:23562761|PMID:24642831|PMID:25615419|PMID:25741868|PMID:26024641|PMID:26345448|PMID:27126960|PMID:27344648|PMID:28492532|PMID:29353736|PMID:29948731|PMID:29976978|PMID:30090137|PMID:31589614|PMID:31665838|PMID:31687339|PMID:32123317|PMID:32180488|PMID:32348839|PMID:33083013|PMID:33182419|PMID:34134969|PMID:34716721|PMID:34807224|PMID:9536098 11813745 NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1350455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:10080174|PMID:11349233|PMID:11494300|PMID:17576681|PMID:19073330|PMID:20818383|PMID:22644603|PMID:23562761|PMID:24642831|PMID:25615419|PMID:25741868|PMID:26024641|PMID:26345448|PMID:27344648|PMID:28492532|PMID:30090137|PMID:31589614|PMID:31665838|PMID:32180488|PMID:33083013|PMID:33182419|PMID:34134969|PMID:34716721|PMID:9536098 11813745 NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:0112082 nuclear type mitochondrial complex I deficiency 4 ISO RGD:1350455 D RGD:7240710 20190315 OMIM 11813745 NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:0112082 nuclear type mitochondrial complex I deficiency 4 ISO RGD:1350455 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 | ClinVar Annotator: match by term: NDUFV1-Related Disorders PMID:10080174|PMID:11349233|PMID:11494300|PMID:14662656|PMID:15576045|PMID:17576681|PMID:19073330|PMID:20818383|PMID:21364701|PMID:21696386|PMID:22644603|PMID:23266820|PMID:23562761|PMID:23631824|PMID:25615419|PMID:25741868|PMID:26024641|PMID:26345448|PMID:27126960|PMID:27344648|PMID:28454995|PMID:28492532|PMID:29353736|PMID:29948731|PMID:29976978|PMID:30090137|PMID:30770271|PMID:31589614|PMID:31665838|PMID:32180488|PMID:32445240|PMID:33083013|PMID:33182419|PMID:34134969|PMID:34716721|PMID:34807224|PMID:34906502|PMID:9536098 11813745 NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:1059 intellectual disability ISO RGD:1350455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11813745 NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:3652 Leigh disease ISO RGD:1350455 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:10080174|PMID:11349233|PMID:11494300|PMID:14662656|PMID:15576045|PMID:17576681|PMID:20818383|PMID:21364701|PMID:21696386|PMID:22644603|PMID:23562761|PMID:23631824|PMID:24642831|PMID:25615419|PMID:25741868|PMID:26024641|PMID:26345448|PMID:27126960|PMID:27344648|PMID:28492532|PMID:29353736|PMID:29948731|PMID:29976978|PMID:30090137|PMID:31589614|PMID:31665838|PMID:31687339|PMID:32123317|PMID:32348839|PMID:33083013|PMID:34134969|PMID:34716721|PMID:34807224|PMID:9536098 11813745 NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:630 genetic disease ISO RGD:1350455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20153825|PMID:25741868|PMID:28454995|PMID:28492532|PMID:34906502 11813745 NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:8398 osteoarthritis ISO RGD:1350455 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11813745 NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1350455 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11813745 NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1350455 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:10080174|PMID:11349233|PMID:11494300|PMID:14662656|PMID:15576045|PMID:17576681|PMID:20818383|PMID:21364701|PMID:21696386|PMID:22644603|PMID:23562761|PMID:23631824|PMID:25615419|PMID:25741868|PMID:26024641|PMID:26345448|PMID:27126960|PMID:27344648|PMID:28492532|PMID:29353736|PMID:29948731|PMID:29976978|PMID:30090137|PMID:31589614|PMID:31665838|PMID:33083013|PMID:34134969|PMID:34716721|PMID:34807224|PMID:9536098 11813745 NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:9000918 Disease Progression ISO RGD:1350455 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11813745 NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1350455 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11813745 NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1350455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11813759 ISCA1 iron-sulfur cluster assembly 1 gene DOID:0070330 multiple mitochondrial dysfunctions syndrome ISO RGD:1350652 D RGD:8554872 20220621 ClinVar ClinVar Annotator: match by term: Fatal multiple mitochondrial dysfunctions syndrome PMID:25741868|PMID:28356563|PMID:30105122|PMID:31580634 11813759 ISCA1 iron-sulfur cluster assembly 1 gene DOID:0080274 multiple mitochondrial dysfunctions syndrome 5 ISO RGD:1350652 D RGD:7240710 20190315 OMIM 11813759 ISCA1 iron-sulfur cluster assembly 1 gene DOID:0080274 multiple mitochondrial dysfunctions syndrome 5 ISO RGD:1350652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 5 PMID:25741868|PMID:28356563|PMID:29767723|PMID:30105122|PMID:30113620|PMID:31580634 11813759 ISCA1 iron-sulfur cluster assembly 1 gene DOID:630 genetic disease ISO RGD:1350652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813768 LOC100992621 olfactory receptor 2B6 gene DOID:630 genetic disease ISO RGD:1346885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813772 TGFB1I1 transforming growth factor beta 1 induced transcript 1 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:732522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11813772 TGFB1I1 transforming growth factor beta 1 induced transcript 1 gene DOID:630 genetic disease ISO RGD:732522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813791 TCHH trichohyalin gene DOID:0111940 immunodeficiency 42 ISO RGD:1320079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11813791 TCHH trichohyalin gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1320079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11813791 TCHH trichohyalin gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1320079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11813791 TCHH trichohyalin gene DOID:1540 parathyroid carcinoma ISO RGD:1320079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11813791 TCHH trichohyalin gene DOID:5812 MHC class II deficiency ISO RGD:1320079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11813791 TCHH trichohyalin gene DOID:630 genetic disease ISO RGD:1320079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813791 TCHH trichohyalin gene DOID:9003784 Uncombable Hair Syndrome 3 ISO RGD:1320079 D RGD:7240710 20190315 OMIM 11813791 TCHH trichohyalin gene DOID:9003784 Uncombable Hair Syndrome 3 ISO RGD:1320079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uncombable hair syndrome 3 PMID:25741868|PMID:27866708 11813791 TCHH trichohyalin gene DOID:9005997 Uncombable Hair Syndrome ISO RGD:1320079 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11813791 TCHH trichohyalin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11813800 DRG1 developmentally regulated GTP binding protein 1 gene DOID:630 genetic disease ISO RGD:1312753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813800 DRG1 developmentally regulated GTP binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11813800 DRG1 developmentally regulated GTP binding protein 1 gene DOID:9006836 Contracture ISO RGD:1312753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 11813813 POLR2E RNA polymerase II, I and III subunit E gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1313437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 11813813 POLR2E RNA polymerase II, I and III subunit E gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1313437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 11813813 POLR2E RNA polymerase II, I and III subunit E gene DOID:5339 cyclic hematopoiesis ISO RGD:1313437 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11813813 POLR2E RNA polymerase II, I and III subunit E gene DOID:630 genetic disease ISO RGD:1313437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813813 POLR2E RNA polymerase II, I and III subunit E gene DOID:9007661 Dwarfism ISO RGD:1313437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11813835 AARD alanine and arginine rich domain containing protein gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:2311262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11813835 AARD alanine and arginine rich domain containing protein gene DOID:206 hereditary multiple exostoses ISO RGD:2311262 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 11813835 AARD alanine and arginine rich domain containing protein gene DOID:630 genetic disease ISO RGD:2311262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813896 LOC100968114 uncharacterized LOC100968114 gene DOID:630 genetic disease ISO RGD:16564657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813896 LOC100968114 uncharacterized LOC100968114 gene DOID:9005539 Familial Prostate Cancer ISO RGD:16564657 D RGD:9068941 20200625 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11813901 SPON1 spondin 1 gene DOID:0080600 COVID-19 ISO RGD:1343453 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11813901 SPON1 spondin 1 gene DOID:1059 intellectual disability ISO RGD:1343453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11813901 SPON1 spondin 1 gene DOID:630 genetic disease ISO RGD:1343453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813920 UACA uveal autoantigen with coiled-coil domains and ankyrin repeats gene DOID:0080600 COVID-19 ISO RGD:1352491 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11813920 UACA uveal autoantigen with coiled-coil domains and ankyrin repeats gene DOID:2717 Bloom syndrome ISO RGD:1352491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11813920 UACA uveal autoantigen with coiled-coil domains and ankyrin repeats gene DOID:630 genetic disease ISO RGD:1352491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813920 UACA uveal autoantigen with coiled-coil domains and ankyrin repeats gene DOID:684 hepatocellular carcinoma ISO RGD:1558458 D RGD:9068941 20220825 MouseDO OMIM:114550 11813920 UACA uveal autoantigen with coiled-coil domains and ankyrin repeats gene DOID:9256 colorectal cancer ISO RGD:1352491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11813957 GK glycerol kinase gene DOID:0060363 glycerol kinase deficiency ISO RGD:1344759 D RGD:7240710 20180130 OMIM 11813957 GK glycerol kinase gene DOID:0060363 glycerol kinase deficiency ISO RGD:1344759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of glycerol kinase PMID:10736265|PMID:10737976|PMID:25741868|PMID:8651297|PMID:9719371 11813957 GK glycerol kinase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11813957 GK glycerol kinase gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:1344759 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked PMID:17504899|PMID:20685758|PMID:21408189|PMID:26980296|PMID:28492532 11813957 GK glycerol kinase gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1344759 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:12632325|PMID:19937601|PMID:22510846|PMID:23453023|PMID:24302611|PMID:24504883|PMID:28492532|PMID:31705731 11813957 GK glycerol kinase gene DOID:12849 autistic disorder ISO RGD:1344759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11813957 GK glycerol kinase gene DOID:13810 familial hypercholesterolemia ISO RGD:70893 D RGD:9068941 20200609 RGD PMID:10642898|REF_RGD_ID:13702898 11813957 GK glycerol kinase gene DOID:630 genetic disease ISO RGD:1344759 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11813957 GK glycerol kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11813957 GK glycerol kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11813957 GK glycerol kinase gene DOID:9007102 Myocardial Ischemia ISO RGD:1344759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11813957 GK glycerol kinase gene DOID:9008086 Developmental Disabilities ISO RGD:1344759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11813957 GK glycerol kinase gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1344759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 11813980 RNF144B ring finger protein 144B gene DOID:630 genetic disease ISO RGD:1318869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11813980 RNF144B ring finger protein 144B gene DOID:9007715 Endometrial Neoplasms ISO RGD:1318869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29724995 11813992 LOC100967898 serine/threonine-protein kinase 32C gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1314150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11813992 LOC100967898 serine/threonine-protein kinase 32C gene DOID:630 genetic disease ISO RGD:1314150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814026 HACD1 3-hydroxyacyl-CoA dehydratase 1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1343988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11814026 HACD1 3-hydroxyacyl-CoA dehydratase 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1343988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11814026 HACD1 3-hydroxyacyl-CoA dehydratase 1 gene DOID:422 congenital structural myopathy ISO RGD:12345752 D RGD:9068941 20210604 OMIA Centronuclear myopathy, HACD1-related PMID:11166165|PMID:12443679|PMID:12884002|PMID:15829503|PMID:21217042|PMID:21866517|PMID:23071563|PMID:24069350|PMID:2458692|PMID:3421890|PMID:3662204|PMID:3750734|PMID:6495580|PMID:8640649|PMID:977449 11814026 HACD1 3-hydroxyacyl-CoA dehydratase 1 gene DOID:630 genetic disease ISO RGD:1343988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11814026 HACD1 3-hydroxyacyl-CoA dehydratase 1 gene DOID:9000525 Congenital Myopathy 11 ISO RGD:1343988 D RGD:7240710 20220810 OMIM 11814026 HACD1 3-hydroxyacyl-CoA dehydratase 1 gene DOID:9000525 Congenital Myopathy 11 ISO RGD:1343988 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, nonprogressive PMID:16199547|PMID:23933735|PMID:28492532|PMID:32426512|PMID:33354762 11814026 HACD1 3-hydroxyacyl-CoA dehydratase 1 gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:1343988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:736238 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:25186627|PMID:25741868|PMID:26315354|PMID:26467025|PMID:27443514|PMID:28492532|PMID:29596542|PMID:32268276|PMID:33118316|PMID:33471991 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:10534 stomach cancer ISO RGD:736238 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:16199547|PMID:20077502|PMID:21344236|PMID:23334666|PMID:25741868|PMID:26010302|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26720728|PMID:27009842|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:29367421|PMID:29922827|PMID:31036035|PMID:31371347|PMID:31843900|PMID:32566746|PMID:32832836|PMID:33471991|PMID:33498765|PMID:34196900|PMID:36988593 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:1324 lung cancer ISO RGD:736238 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:20077502|PMID:25741868|PMID:26467025|PMID:26738429|PMID:28492532 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:1520 colon carcinoma ISO RGD:736238 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:20077502|PMID:25741868|PMID:26350354|PMID:26467025|PMID:26738429|PMID:28135145|PMID:28492532|PMID:31371347 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer ISO RGD:736238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11807980|PMID:14550946|PMID:15342711|PMID:15855157|PMID:16061562|PMID:16333312|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24123366|PMID:24454733|PMID:25186627|PMID:25288723|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26786923|PMID:26787654|PMID:26898890|PMID:26976419|PMID:26979391|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27443514|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28301456|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28873162|PMID:28888541|PMID:29292755|PMID:29596542|PMID:29625052|PMID:29785153|PMID:29858377|PMID:29905759|PMID:29922827|PMID:30067863|PMID:30374176|PMID:30925164|PMID:30982232|PMID:31036035|PMID:31371347|PMID:31666926|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:34754157|PMID:9425226|PMID:9536098 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer ISO RGD:736238 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11807980|PMID:14550946|PMID:15342711|PMID:15855157|PMID:16061562|PMID:16333312|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24123366|PMID:24454733|PMID:25186627|PMID:25288723|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27443514|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28301456|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28873162|PMID:28888541|PMID:29292755|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29785153|PMID:29858377|PMID:29905759|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30374176|PMID:30781715|PMID:30925164|PMID:30982232|PMID:31036035|PMID:31371347|PMID:31666926|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:34196900|PMID:34754157|PMID:34906988|PMID:36988593|PMID:9425226|PMID:9536098 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer no_association ISO RGD:736238 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.C557S (human) PMID:17333333|REF_RGD_ID:2315714 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer no_association ISO RGD:736238 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple (human) PMID:17972171|REF_RGD_ID:2315715 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer no_association ISO RGD:736238 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.V507M, p.C557S (human) PMID:16333312|REF_RGD_ID:2315717 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer severity ISO RGD:736238 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:breast PMID:16152612|REF_RGD_ID:2315727 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer susceptibility ISO RGD:736238 D RGD:7240710 20230505 OMIM 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:1781 thyroid gland cancer ISO RGD:736238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thyroid cancer PMID:25186627|PMID:25741868|PMID:26315354|PMID:26787654|PMID:26976419|PMID:28492532 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:2394 ovarian cancer ISO RGD:736238 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:15855157|PMID:19139070|PMID:23056176|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26010302|PMID:26350354|PMID:26467025|PMID:26757417|PMID:26787654|PMID:27498913|PMID:28051113|PMID:28492532|PMID:28912018|PMID:29905759|PMID:30093976|PMID:30925164|PMID:30982232|PMID:31036035|PMID:31666926|PMID:31871109|PMID:32008151|PMID:32068069|PMID:32566746|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33646313|PMID:34754157|PMID:35402282 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:2871 endometrial carcinoma ISO RGD:736238 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:20077502|PMID:21344236|PMID:25330149|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26315354|PMID:26329992|PMID:26467025|PMID:26681312|PMID:26689913|PMID:27153395|PMID:27443514|PMID:28008555|PMID:28492532|PMID:29625052|PMID:30947698|PMID:31036035|PMID:32295079|PMID:33471991 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:3204 neurilemmomatosis ISO RGD:736238 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Schwannomatosis 2 PMID:25741868|PMID:26315354|PMID:26467025|PMID:27443514|PMID:28492532|PMID:28717660|PMID:30925164|PMID:32980694|PMID:33471991 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:3459 breast carcinoma ISO RGD:736238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:16199547|PMID:20077502|PMID:21344236|PMID:25741868|PMID:28492532|PMID:28724667|PMID:31036035|PMID:32658311|PMID:32832836 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:736238 D RGD:9068941 20210604 RGD PMID:21815143|REF_RGD_ID:127229947 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:12832489|PMID:15855157|PMID:16199547|PMID:17550235|PMID:17848578|PMID:19139070|PMID:20077502|PMID:21344236|PMID:22006311|PMID:23056176|PMID:23334666|PMID:25186627|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26720728|PMID:26738429|PMID:26976419|PMID:26979419|PMID:27083178|PMID:27443514|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:29292755|PMID:29700634|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30925164|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31843900|PMID:32295079|PMID:32566746|PMID:32832836 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:29292755|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30925164|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32295079|PMID:32566746|PMID:32726901|PMID:32832836|PMID:33471991|PMID:33552952|PMID:9425226 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:29292755|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30925164|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32295079|PMID:32566746|PMID:32726901|PMID:32832836|PMID:33471991|PMID:33552952|PMID:9425226 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:29292755|PMID:29625052|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30925164|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32295079|PMID:32566746|PMID:32726901|PMID:32832836|PMID:32980694|PMID:33471991|PMID:33498765|PMID:33552952|PMID:34034685|PMID:9425226 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29625052|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30925164|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32726901|PMID:32832836|PMID:32980694|PMID:33471991|PMID:33498765|PMID:33552952|PMID:34034685|PMID:9425226 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34250417|PMID:34754157|PMID:9425226 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34250417|PMID:34754157|PMID:9425226 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34250417|PMID:34754157|PMID:9425226 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34196900|PMID:34250417|PMID:34754157|PMID:9425226 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34196900|PMID:34250417|PMID:34754157|PMID:36988593|PMID:9425226 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:630 genetic disease ISO RGD:736238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:687 hepatoblastoma ISO RGD:736238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:26580448|PMID:28492532 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:769 neuroblastoma ISO RGD:736238 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19412175|PMID:23334666 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:736238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:736238 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma PMID:25741868|PMID:26315354|PMID:26467025|PMID:26787654|PMID:28135145|PMID:28492532|PMID:30925164|PMID:31371347|PMID:32068069|PMID:33471991 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733490 D RGD:9068941 20200609 RGD PMID:18443292|REF_RGD_ID:2293149 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736238 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:2007750|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29263802|PMID:29292755|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29858377|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30680046|PMID:30804502|PMID:30925164|PMID:31036035|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32658311|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32980694|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33692861|PMID:34034685|PMID:34102105|PMID:34359559|PMID:34906988|PMID:9425226|PMID:9536098 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:2007750|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29263802|PMID:29292755|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29858377|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30804502|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:33646313|PMID:33692861|PMID:34034685|PMID:34102105|PMID:34250417|PMID:34359559|PMID:34754157|PMID:34906988|PMID:35402282|PMID:9425226|PMID:9536098 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736238 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29263802|PMID:29292755|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29858377|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:33646313|PMID:33692861|PMID:34034685|PMID:34102105|PMID:34196900|PMID:34250417|PMID:34359559|PMID:34754157|PMID:34906988|PMID:35402282|PMID:36187937|PMID:9425226|PMID:9536098 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736238 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26076356|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29025590|PMID:29263802|PMID:29292755|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29858377|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:33621668|PMID:33646313|PMID:33692861|PMID:33933153|PMID:34034685|PMID:34102105|PMID:34196900|PMID:34250417|PMID:34359559|PMID:34754157|PMID:34906988|PMID:35264596|PMID:35402282|PMID:35595798|PMID:36187937|PMID:36988593|PMID:9425226|PMID:9536098 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:9007346 Cachexia ISO RGD:621072 D RGD:9068941 20200609 RGD associated with Carcinoma, Hepatocellular;protein:increased expression:skeletal muscle PMID:16685375|REF_RGD_ID:2315732 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:20077502|PMID:21344236|PMID:25741868|PMID:26315354|PMID:26467025|PMID:28492532|PMID:29566657|PMID:30925164 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:736238 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:11807980|PMID:12832489|PMID:14550946|PMID:14560035|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:19763152|PMID:20030863|PMID:20077502|PMID:20307669|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:22406018|PMID:22927429|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24302565|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25640679|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26022179|PMID:26075229|PMID:26076356|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29180619|PMID:29263802|PMID:29292755|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29566657|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29858377|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:33646313|PMID:33692861|PMID:33933153|PMID:34034685|PMID:34102105|PMID:34196900|PMID:34250417|PMID:34321665|PMID:34359559|PMID:34754157|PMID:34789768|PMID:34906988|PMID:35264596|PMID:35402282|PMID:35595798|PMID:36187937|PMID:36988593|PMID:9425226|PMID:9536098 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:936 brain disease ISO RGD:736238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868 11814035 BARD1 BRCA1 associated RING domain 1 gene DOID:9538 multiple myeloma ISO RGD:736238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11814052 BHLHA15 basic helix-loop-helix family member a15 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:737550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11814052 BHLHA15 basic helix-loop-helix family member a15 gene DOID:630 genetic disease ISO RGD:737550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814058 KCNN3 potassium calcium-activated channel subfamily N member 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:733381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11814058 KCNN3 potassium calcium-activated channel subfamily N member 3 gene DOID:0060224 atrial fibrillation ISO RGD:733381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20173747|PMID:30061737 11814058 KCNN3 potassium calcium-activated channel subfamily N member 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:733381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11814058 KCNN3 potassium calcium-activated channel subfamily N member 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:733381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11814058 KCNN3 potassium calcium-activated channel subfamily N member 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:733381 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11814058 KCNN3 potassium calcium-activated channel subfamily N member 3 gene DOID:10283 prostate cancer ISO RGD:733381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11814058 KCNN3 potassium calcium-activated channel subfamily N member 3 gene DOID:1229 paranoid schizophrenia ISO RGD:733381 D RGD:9068941 20200609 RGD DNA:repeat:exon PMID:12007452|REF_RGD_ID:1358338 11814058 KCNN3 potassium calcium-activated channel subfamily N member 3 gene DOID:1540 parathyroid carcinoma ISO RGD:733381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11814058 KCNN3 potassium calcium-activated channel subfamily N member 3 gene DOID:5419 schizophrenia ISO RGD:733381 D RGD:9068941 20200609 RGD DNA:repeat:exon PMID:9672903|REF_RGD_ID:1358671 11814058 KCNN3 potassium calcium-activated channel subfamily N member 3 gene DOID:5419 schizophrenia onset ISO RGD:733381 D RGD:9068941 20200609 RGD DNA:repeat:exon PMID:12007452|REF_RGD_ID:1358338 11814058 KCNN3 potassium calcium-activated channel subfamily N member 3 gene DOID:5812 MHC class II deficiency ISO RGD:733381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11814058 KCNN3 potassium calcium-activated channel subfamily N member 3 gene DOID:630 genetic disease ISO RGD:733381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814058 KCNN3 potassium calcium-activated channel subfamily N member 3 gene DOID:9006063 Zimmermann-Laband Syndrome 3 ISO RGD:733381 D RGD:7240710 20191127 OMIM 11814058 KCNN3 potassium calcium-activated channel subfamily N member 3 gene DOID:9006063 Zimmermann-Laband Syndrome 3 ISO RGD:733381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Zimmermann-laband syndrome 3 PMID:24033266|PMID:25741868|PMID:31155282 11814058 KCNN3 potassium calcium-activated channel subfamily N member 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11814071 FAM161A FAM161 centrosomal protein A gene DOID:0050572 cone-rod dystrophy ISO RGD:2293814 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:20705278|PMID:20705279|PMID:24651477|PMID:25097241|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26113502|PMID:26574802|PMID:28492532|PMID:30718709 11814071 FAM161A FAM161 centrosomal protein A gene DOID:0080485 peroxisome biogenesis disorder 11A ISO RGD:2293814 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) PMID:28492532 11814071 FAM161A FAM161 centrosomal protein A gene DOID:0110365 retinitis pigmentosa 28 ISO RGD:2293814 D RGD:7240710 20180130 OMIM 11814071 FAM161A FAM161 centrosomal protein A gene DOID:0110365 retinitis pigmentosa 28 ISO RGD:2293814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 28 PMID:10507729|PMID:16199547|PMID:17576681|PMID:20705278|PMID:20705279|PMID:23167750|PMID:23591405|PMID:24520187|PMID:24651477|PMID:25007332|PMID:25097241|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26113502|PMID:26355662|PMID:26574802|PMID:27208204|PMID:28492532|PMID:28559085|PMID:28945494|PMID:30718709|PMID:31236346|PMID:9536098 11814071 FAM161A FAM161 centrosomal protein A gene DOID:10584 retinitis pigmentosa ISO RGD:2293814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10507729|PMID:20705278|PMID:20705279|PMID:23167750|PMID:23591405|PMID:24520187|PMID:24651477|PMID:25007332|PMID:25097241|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26113502|PMID:26355662|PMID:26574802|PMID:28041643|PMID:28492532|PMID:28945494|PMID:30718709 11814071 FAM161A FAM161 centrosomal protein A gene DOID:5419 schizophrenia ISO RGD:2293814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11814071 FAM161A FAM161 centrosomal protein A gene DOID:630 genetic disease ISO RGD:2293814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20705278|PMID:20705279|PMID:24651477|PMID:25741868|PMID:28492532 11814071 FAM161A FAM161 centrosomal protein A gene DOID:8501 fundus dystrophy ISO RGD:2293814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10507729|PMID:20705278|PMID:20705279|PMID:23591405|PMID:24651477|PMID:25097241|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26113502|PMID:26355662|PMID:26574802|PMID:27208204|PMID:28492532|PMID:28945494|PMID:30718709 11814083 DAZAP1 DAZ associated protein 1 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1313216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 11814083 DAZAP1 DAZ associated protein 1 gene DOID:5339 cyclic hematopoiesis ISO RGD:1313216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11814083 DAZAP1 DAZ associated protein 1 gene DOID:630 genetic disease ISO RGD:1313216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814083 DAZAP1 DAZ associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11814083 DAZAP1 DAZ associated protein 1 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:1313216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 11814098 ZNF235 zinc finger protein 235 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1350686 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 11814098 ZNF235 zinc finger protein 235 gene DOID:5419 schizophrenia ISO RGD:1350686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11814098 ZNF235 zinc finger protein 235 gene DOID:630 genetic disease ISO RGD:1350686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814109 RBM12B RNA binding motif protein 12B gene DOID:2661 myoepithelioma ISO RGD:1602033 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11814109 RBM12B RNA binding motif protein 12B gene DOID:630 genetic disease ISO RGD:1602033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814115 SAMD4B sterile alpha motif domain containing 4B gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1605980 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11814115 SAMD4B sterile alpha motif domain containing 4B gene DOID:630 genetic disease ISO RGD:1605980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814115 SAMD4B sterile alpha motif domain containing 4B gene DOID:9352 type 2 diabetes mellitus ISO RGD:1605980 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11814151 CDYL2 chromodomain Y like 2 gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1319946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:28492532 11814151 CDYL2 chromodomain Y like 2 gene DOID:630 genetic disease ISO RGD:1319946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814161 DENND2B DENN domain containing 2B gene DOID:630 genetic disease ISO RGD:1319089 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814236 MDH1 malate dehydrogenase 1 gene DOID:0112222 developmental and epileptic encephalopathy 88 ISO RGD:732327 D RGD:7240710 20200812 OMIM 11814236 MDH1 malate dehydrogenase 1 gene DOID:0112222 developmental and epileptic encephalopathy 88 ISO RGD:732327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 88 PMID:31538237 11814236 MDH1 malate dehydrogenase 1 gene DOID:10763 hypertension ISO RGD:732327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 11814236 MDH1 malate dehydrogenase 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:732327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 11814236 MDH1 malate dehydrogenase 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11814236 MDH1 malate dehydrogenase 1 gene DOID:630 genetic disease ISO RGD:732327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814236 MDH1 malate dehydrogenase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11814236 MDH1 malate dehydrogenase 1 gene DOID:9004590 Acute Liver Failure ISO RGD:732327 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 11814236 MDH1 malate dehydrogenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 11814236 MDH1 malate dehydrogenase 1 gene DOID:9008691 Liver Injury treatment ISO RGD:3072 D RGD:9068941 20200609 RGD PMID:24919044|REF_RGD_ID:13703104 11814249 WIPF3 WAS/WASL interacting protein family member 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11814249 WIPF3 WAS/WASL interacting protein family member 3 gene DOID:630 genetic disease ISO RGD:1605143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814263 OPN3 opsin 3 gene DOID:0080600 COVID-19 ISO RGD:1345705 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11814263 OPN3 opsin 3 gene DOID:0111261 fumarase deficiency ISO RGD:1345705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fumarase deficiency PMID:11865300|PMID:12761039|PMID:21398687|PMID:22069215|PMID:28300276|PMID:28492532 11814263 OPN3 opsin 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1345705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11814263 OPN3 opsin 3 gene DOID:630 genetic disease ISO RGD:1345705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814263 OPN3 opsin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11814263 OPN3 opsin 3 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1345705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 11814263 OPN3 opsin 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11814271 LOC100978961 lymphotactin gene DOID:1540 parathyroid carcinoma ISO RGD:1350360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11814271 LOC100978961 lymphotactin gene DOID:2945 severe acute respiratory syndrome ISO RGD:733993 D RGD:9068941 20200619 RGD mRNA:increased expression:lung (mouse) PMID:15356152|REF_RGD_ID:30309221 11814271 LOC100978961 lymphotactin gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:620452 D RGD:9068941 20200611 RGD mRNA:increased expression:glomerulus PMID:9717977|REF_RGD_ID:8693304 11814271 LOC100978961 lymphotactin gene DOID:630 genetic disease ISO RGD:1350360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814271 LOC100978961 lymphotactin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11814278 RNF207 ring finger protein 207 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603826 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11814278 RNF207 ring finger protein 207 gene DOID:2843 long QT syndrome ISO RGD:1603826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868 11814278 RNF207 ring finger protein 207 gene DOID:630 genetic disease ISO RGD:1603826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814278 RNF207 ring finger protein 207 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11814278 RNF207 ring finger protein 207 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1603826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 11814318 HSDL1 hydroxysteroid dehydrogenase like 1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1354077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 11814318 HSDL1 hydroxysteroid dehydrogenase like 1 gene DOID:630 genetic disease ISO RGD:1354077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814318 HSDL1 hydroxysteroid dehydrogenase like 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1354077 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11814331 QRICH2 glutamine rich 2 gene DOID:0111914 spermatogenic failure 35 ISO RGD:1604772 D RGD:7240710 20190315 OMIM 11814331 QRICH2 glutamine rich 2 gene DOID:0111914 spermatogenic failure 35 ISO RGD:1604772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 35 PMID:25741868|PMID:31110204|PMID:31292949 11814331 QRICH2 glutamine rich 2 gene DOID:630 genetic disease ISO RGD:1604772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814361 CEP41 centrosomal protein 41 gene DOID:0050777 Joubert syndrome ISO RGD:1346248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 11814361 CEP41 centrosomal protein 41 gene DOID:0060041 autism spectrum disorder ISO RGD:1346248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial Autism Spectrum Disorder PMID:20301500|PMID:22246503|PMID:25741868|PMID:28492532|PMID:30664616 11814361 CEP41 centrosomal protein 41 gene DOID:0110984 Joubert syndrome 15 ISO RGD:1346248 D RGD:7240710 20180130 OMIM 11814361 CEP41 centrosomal protein 41 gene DOID:0110984 Joubert syndrome 15 ISO RGD:1346248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 15 PMID:16199547|PMID:17576681|PMID:20301500|PMID:21438139|PMID:22246503|PMID:25741868|PMID:28492532|PMID:29588463|PMID:30664616|PMID:9536098 11814361 CEP41 centrosomal protein 41 gene DOID:0111004 Joubert syndrome 9 ISO RGD:1346248 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic PMID:20301500|PMID:22246503|PMID:25741868|PMID:28492532|PMID:30664616 11814361 CEP41 centrosomal protein 41 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11814361 CEP41 centrosomal protein 41 gene DOID:630 genetic disease ISO RGD:1346248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22246503|PMID:25741868|PMID:28492532 11814361 CEP41 centrosomal protein 41 gene DOID:9250 acrocallosal syndrome ISO RGD:1346248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 12/15, digenic PMID:22246503|PMID:28492532 11814390 SOX8 SRY-box transcription factor 8 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1319208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 11814390 SOX8 SRY-box transcription factor 8 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1319208 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11814390 SOX8 SRY-box transcription factor 8 gene DOID:1826 epilepsy ISO RGD:1319208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11814390 SOX8 SRY-box transcription factor 8 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11814390 SOX8 SRY-box transcription factor 8 gene DOID:574 peripheral nervous system disease ISO RGD:1319208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 11814390 SOX8 SRY-box transcription factor 8 gene DOID:630 genetic disease ISO RGD:1319208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814390 SOX8 SRY-box transcription factor 8 gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:1319208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 11814398 SPATA20 spermatogenesis associated 20 gene DOID:0070311 oligoasthenoteratozoospermia ISO RGD:1623815 D RGD:9068941 20220825 MouseDO 11814398 SPATA20 spermatogenesis associated 20 gene DOID:630 genetic disease ISO RGD:1603970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814439 IMPG1 interphotoreceptor matrix proteoglycan 1 gene DOID:0050661 vitelliform macular dystrophy ISO RGD:1352807 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11814439 IMPG1 interphotoreceptor matrix proteoglycan 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1352807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868 11814439 IMPG1 interphotoreceptor matrix proteoglycan 1 gene DOID:4448 macular degeneration ISO RGD:1352807 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:28041643|PMID:28492532|PMID:32581362 11814439 IMPG1 interphotoreceptor matrix proteoglycan 1 gene DOID:630 genetic disease ISO RGD:1352807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11814439 IMPG1 interphotoreceptor matrix proteoglycan 1 gene DOID:8501 fundus dystrophy ISO RGD:1352807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17576681|PMID:23993198|PMID:28492532|PMID:28644393|PMID:30688845|PMID:9536098 11814439 IMPG1 interphotoreceptor matrix proteoglycan 1 gene DOID:9000341 Concentric Annular Macular Dystrophy ISO RGD:1352807 D RGD:7240710 20210929 OMIM 11814439 IMPG1 interphotoreceptor matrix proteoglycan 1 gene DOID:9000341 Concentric Annular Macular Dystrophy ISO RGD:1352807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Benign concentric annular macular dystrophy PMID:14691150|PMID:16199547|PMID:23993198|PMID:25741868|PMID:28492532|PMID:32817297|PMID:4412179 11814439 IMPG1 interphotoreceptor matrix proteoglycan 1 gene DOID:9002891 Vitelliform Macular Dystrophy 2 ISO RGD:1352807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 PMID:25741868 11814439 IMPG1 interphotoreceptor matrix proteoglycan 1 gene DOID:9008898 Vitelliform Macular Dystrophy 4 ISO RGD:1352807 D RGD:7240710 20180130 OMIM 11814439 IMPG1 interphotoreceptor matrix proteoglycan 1 gene DOID:9008898 Vitelliform Macular Dystrophy 4 ISO RGD:1352807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 4 PMID:16199547|PMID:23993198|PMID:25741868|PMID:28492532|PMID:28644393|PMID:30688845|PMID:32817297 11814458 TMA16 translation machinery associated 16 homolog gene DOID:630 genetic disease ISO RGD:1605071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814469 KCTD4 potassium channel tetramerization domain containing 4 gene DOID:630 genetic disease ISO RGD:1353413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814475 GLRA1 glycine receptor alpha 1 gene DOID:0060695 hyperekplexia ISO RGD:730939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperekplexia 11814475 GLRA1 glycine receptor alpha 1 gene DOID:0060696 hyperekplexia 1 ISO RGD:730939 D RGD:7240710 20180130 OMIM 11814475 GLRA1 glycine receptor alpha 1 gene DOID:0060696 hyperekplexia 1 ISO RGD:730939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperekplexia 1 PMID:10817489|PMID:11389164|PMID:11702206|PMID:11781706|PMID:11973623|PMID:12746425|PMID:1334371|PMID:15771552|PMID:16078201|PMID:16236274|PMID:16832093|PMID:17536053|PMID:18043720|PMID:19073849|PMID:20631190|PMID:22264702|PMID:24033266|PMID:24108130|PMID:25333069|PMID:25568133|PMID:25741868|PMID:26733802|PMID:28122427|PMID:28138086|PMID:28492532|PMID:28617419|PMID:28879899|PMID:28985719|PMID:7518444|PMID:7611730|PMID:7874121|PMID:7881416|PMID:7981700|PMID:8298642|PMID:8571969|PMID:8651283|PMID:8733061|PMID:9009272|PMID:9067762|PMID:9920650 11814475 GLRA1 glycine receptor alpha 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:730939 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11814475 GLRA1 glycine receptor alpha 1 gene DOID:13366 Stiff-Person syndrome ISO RGD:730939 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hyperekplexia PMID:10514101|PMID:10817489|PMID:11389164|PMID:11702206|PMID:12169101|PMID:12746425|PMID:1334371|PMID:15365143|PMID:15771552|PMID:16078201|PMID:16199547|PMID:16236274|PMID:16941485|PMID:17536053|PMID:17576681|PMID:19073849|PMID:19732286|PMID:20631190|PMID:22532536|PMID:24033266|PMID:24108130|PMID:25036534|PMID:25333069|PMID:25568133|PMID:25741868|PMID:26733802|PMID:28122427|PMID:28138086|PMID:28174298|PMID:28492532|PMID:28617419|PMID:28985719|PMID:30078784|PMID:30182260|PMID:30866851|PMID:32695065|PMID:7518444|PMID:7611730|PMID:7881416|PMID:7981700|PMID:8298642|PMID:8733061|PMID:9009272|PMID:9536098 11814475 GLRA1 glycine receptor alpha 1 gene DOID:543 dystonia ISO RGD:730939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17114051 11814475 GLRA1 glycine receptor alpha 1 gene DOID:630 genetic disease ISO RGD:730939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20631190|PMID:25741868|PMID:28174298|PMID:28492532 11814475 GLRA1 glycine receptor alpha 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:730939 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11814475 GLRA1 glycine receptor alpha 1 gene DOID:9007722 Myoclonus ISO RGD:730939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sleep myoclonus PMID:1334371|PMID:25741868|PMID:28122427|PMID:28138086|PMID:28492532|PMID:28617419|PMID:7518444|PMID:7611730|PMID:7881416|PMID:7981700|PMID:8298642|PMID:8733061 11814509 NFATC3 nuclear factor of activated T cells 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1318613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11814509 NFATC3 nuclear factor of activated T cells 3 gene DOID:10126 keratoconus ISO RGD:1318613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 11814509 NFATC3 nuclear factor of activated T cells 3 gene DOID:630 genetic disease ISO RGD:1318613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814509 NFATC3 nuclear factor of activated T cells 3 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1615176 D RGD:9068941 20200609 RGD PMID:9568714|REF_RGD_ID:1579956 11814509 NFATC3 nuclear factor of activated T cells 3 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1615176 D RGD:9068941 20200609 RGD PMID:9568714|REF_RGD_ID:1579956 11814526 SPIC Spi-C transcription factor gene DOID:630 genetic disease ISO RGD:1314796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814536 LRAT lecithin retinol acyltransferase gene DOID:0050572 cone-rod dystrophy ISO RGD:68515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:25741868 11814536 LRAT lecithin retinol acyltransferase gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:68515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:25324289|PMID:25472526|PMID:25741868|PMID:28492532|PMID:29186038|PMID:29844330|PMID:30190494|PMID:32865313 11814536 LRAT lecithin retinol acyltransferase gene DOID:0110188 Leber congenital amaurosis 14 ISO RGD:68515 D RGD:7240710 20180130 OMIM 11814536 LRAT lecithin retinol acyltransferase gene DOID:0110188 Leber congenital amaurosis 14 ISO RGD:68515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar Annotator: match by term: RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED PMID:11381255|PMID:17011878|PMID:18055821|PMID:22025579|PMID:22559933|PMID:22570351|PMID:24265693|PMID:25741868|PMID:28492532|PMID:29186038|PMID:32865313 11814536 LRAT lecithin retinol acyltransferase gene DOID:10584 retinitis pigmentosa ISO RGD:68515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:22025579|PMID:25741868|PMID:26355662|PMID:28492532|PMID:30054919|PMID:30718709 11814536 LRAT lecithin retinol acyltransferase gene DOID:10608 celiac disease ISO RGD:68515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 11814536 LRAT lecithin retinol acyltransferase gene DOID:14791 Leber congenital amaurosis ISO RGD:68515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:24033266|PMID:25741868|PMID:28492532 11814536 LRAT lecithin retinol acyltransferase gene DOID:3007 breast ductal carcinoma ISO RGD:68515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 11814536 LRAT lecithin retinol acyltransferase gene DOID:630 genetic disease ISO RGD:68515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11814536 LRAT lecithin retinol acyltransferase gene DOID:684 hepatocellular carcinoma ISO RGD:68515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11814536 LRAT lecithin retinol acyltransferase gene DOID:705 Leber hereditary optic neuropathy ISO RGD:68515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16250670|PMID:17011878 11814536 LRAT lecithin retinol acyltransferase gene DOID:8501 fundus dystrophy ISO RGD:68515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 11814536 LRAT lecithin retinol acyltransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:68515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11814536 LRAT lecithin retinol acyltransferase gene DOID:9002525 Hereditary Eye Diseases ISO RGD:68515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16968212 11814536 LRAT lecithin retinol acyltransferase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:68515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11814536 LRAT lecithin retinol acyltransferase gene DOID:9008296 Eye Abnormalities ISO RGD:68515 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868 11814536 LRAT lecithin retinol acyltransferase gene DOID:9008550 Vitamin A Deficiency ISO RGD:68515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16174770 11814543 MTA2 metastasis associated 1 family member 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1315535 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11814543 MTA2 metastasis associated 1 family member 2 gene DOID:1059 intellectual disability ISO RGD:1315535 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11814543 MTA2 metastasis associated 1 family member 2 gene DOID:289 endometriosis ISO RGD:1315535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 11814543 MTA2 metastasis associated 1 family member 2 gene DOID:630 genetic disease ISO RGD:1315535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814543 MTA2 metastasis associated 1 family member 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:1315536 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 11814566 UTP20 UTP20 small subunit processome component gene DOID:630 genetic disease ISO RGD:1607048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814632 FXYD3 FXYD domain containing ion transport regulator 3 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1348403 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11814632 FXYD3 FXYD domain containing ion transport regulator 3 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1348403 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11814632 FXYD3 FXYD domain containing ion transport regulator 3 gene DOID:1793 pancreatic cancer ISO RGD:1348403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16003754 11814632 FXYD3 FXYD domain containing ion transport regulator 3 gene DOID:543 dystonia ISO RGD:1348403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11814632 FXYD3 FXYD domain containing ion transport regulator 3 gene DOID:630 genetic disease ISO RGD:1348403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814632 FXYD3 FXYD domain containing ion transport regulator 3 gene DOID:9775 diastolic heart failure ISO RGD:1348403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 11814658 CCDC12 coiled-coil domain containing 12 gene DOID:0111044 gray platelet syndrome ISO RGD:1343271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gray platelet syndrome 11814658 CCDC12 coiled-coil domain containing 12 gene DOID:630 genetic disease ISO RGD:1343271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814658 CCDC12 coiled-coil domain containing 12 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1343271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11814678 ZNF624 zinc finger protein 624 gene DOID:630 genetic disease ISO RGD:1342948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:0050625 biliary tract benign neoplasm disease_progression ISO RGD:737024 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18475301|REF_RGD_ID:2324916 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:0080773 delta beta-thalassemia ISO RGD:737024 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:0111969 immunodeficiency 39 ISO RGD:737024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:737024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:10140 dry eye syndrome ISO RGD:62293 D RGD:9068941 20200609 RGD PMID:21283525|PMID:23272068|REF_RGD_ID:7364730|REF_RGD_ID:7364762 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:10140 dry eye syndrome ISO RGD:62293 D RGD:9068941 20220825 MouseDO 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:10140 dry eye syndrome ISO RGD:737024 D RGD:9068941 20200609 RGD PMID:23538614|REF_RGD_ID:7349402 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:10140 dry eye syndrome treatment ISO RGD:62001 D RGD:9068941 20200609 RGD protein:decreased expression:cornea PMID:19415319|REF_RGD_ID:2324954 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:10140 dry eye syndrome treatment ISO RGD:737024 D RGD:9068941 20200609 RGD associated with Graft vs Host Disease PMID:17982500|REF_RGD_ID:7364737 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:10754 otitis media ISO RGD:1616427 D RGD:9068941 20200609 RGD associated with CHARGE Syndrome PMID:22539951|REF_RGD_ID:7349405 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:10754 otitis media ISO RGD:62001 D RGD:9068941 20200609 RGD mRNA:increased expression:ear PMID:11425202|REF_RGD_ID:2324973 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:10808 gastric ulcer ISO RGD:62001 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:stomach PMID:11956390|REF_RGD_ID:2324968 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:10808 gastric ulcer treatment ISO RGD:62001 D RGD:9068941 20200609 RGD PMID:16240224|REF_RGD_ID:7364759 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:62293 D RGD:9068941 20200609 RGD associated with Respiratory Hypersensitivity; protein:increased expression:lung PMID:15130904|REF_RGD_ID:5131205 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:12894 Sjogren's syndrome ISO RGD:737024 D RGD:9068941 20200609 RGD mRNA:decreased expression:conjunctival epithelial cell PMID:18184611|REF_RGD_ID:7364736 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:12895 keratoconjunctivitis sicca ISO RGD:731951 D RGD:9068941 20200609 RGD PMID:14507865|REF_RGD_ID:7349377 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:13550 angle-closure glaucoma ISO RGD:737024 D RGD:9068941 20200609 RGD associated with Cataract;protein:decreased expression:tear PMID:21139981|REF_RGD_ID:7364742 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:737024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:1485 cystic fibrosis ISO RGD:737024 D RGD:9068941 20200609 RGD PMID:17255563|REF_RGD_ID:5131191 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:1679 cystitis ISO RGD:737024 D RGD:9068941 20200609 RGD PMID:17659847|REF_RGD_ID:7349345 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:1686 glaucoma ISO RGD:737024 D RGD:9068941 20200609 RGD protein:increased expression:conjunctival epithelial cell PMID:16809382|REF_RGD_ID:7364743 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:1749 squamous cell carcinoma ISO RGD:737024 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:1793 pancreatic cancer ISO RGD:737024 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:14654947|REF_RGD_ID:2317984 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:1793 pancreatic cancer ISO RGD:737024 D RGD:9068941 20200609 RGD protein:increased glycosylation:serum PMID:19377061|REF_RGD_ID:2325129 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:2841 asthma ISO RGD:62001 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung PMID:17590487|REF_RGD_ID:2324962 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:2841 asthma ISO RGD:62293 D RGD:9068941 20200609 RGD PMID:14594655|REF_RGD_ID:7349354 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:2841 asthma ISO RGD:62293 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:21780541|REF_RGD_ID:7349407 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:2841 asthma ISO RGD:737024 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:17698377|REF_RGD_ID:5131204 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:2841 asthma treatment ISO RGD:62293 D RGD:9068941 20200609 RGD PMID:21549818|REF_RGD_ID:7364729 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:3030 mucinous adenocarcinoma ISO RGD:737024 D RGD:9068941 20200609 RGD associated with pancreatic diseases;protein:decreased expression:pancreas PMID:19954814|REF_RGD_ID:2324889 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:3030 mucinous adenocarcinoma ISO RGD:737024 D RGD:9068941 20200609 RGD associated with pancreatic neoplasms;protein:increased expression:pancreas PMID:17708554|REF_RGD_ID:2324887 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:3030 mucinous adenocarcinoma disease_progression ISO RGD:737024 D RGD:9068941 20200609 RGD associated with pancreatic neoplasms; mRNA:increased expression:pancreas PMID:10227724|REF_RGD_ID:2324907 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737024 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:17637221|REF_RGD_ID:4145655 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737024 D RGD:9068941 20200609 RGD protein:increased expression:bronchi PMID:19723147|REF_RGD_ID:5131190 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:62001 D RGD:9068941 20200609 RGD PMID:22282955|REF_RGD_ID:7349406 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:3587 pancreatic ductal carcinoma ISO RGD:737024 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:7657125|REF_RGD_ID:2324986 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:737024 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:10227724|REF_RGD_ID:2324907 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:3770 pulmonary fibrosis ISO RGD:62001 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:14680076|REF_RGD_ID:5131207 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:3770 pulmonary fibrosis ISO RGD:62293 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19154443|REF_RGD_ID:2314537 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:3910 lung adenocarcinoma ISO RGD:737024 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:4481 allergic rhinitis ISO RGD:62001 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:nasal cavity epithelium PMID:22972875|REF_RGD_ID:7364746 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:4483 rhinitis ISO RGD:62001 D RGD:9068941 20200609 RGD mRNA:increased expression:nose PMID:20696593|REF_RGD_ID:4145454 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:4483 rhinitis ISO RGD:737024 D RGD:9068941 20200609 RGD PMID:15715404|REF_RGD_ID:7364740 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:4608 common bile duct neoplasm ISO RGD:737024 D RGD:9068941 20200609 RGD protein:altered expression:pancreas PMID:8143972|REF_RGD_ID:2324890 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:4947 cholangiocarcinoma ISO RGD:737024 D RGD:9068941 20200609 RGD mRNA:increased expression:bile duct PMID:11680592|REF_RGD_ID:2324948 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:737024 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14508831|REF_RGD_ID:2324990 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:76 stomach disease treatment ISO RGD:62001 D RGD:9068941 20200609 RGD PMID:23200466|REF_RGD_ID:7364745 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:8463 corneal ulcer ISO RGD:737024 D RGD:9068941 20200609 RGD associated with Hypersensitivity;mRNA:decreased expression:eye PMID:16251127|REF_RGD_ID:7364739 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:9000011 Gallbladder Neoplasms ISO RGD:737024 D RGD:9068941 20200609 RGD protein:decreased expression:gallbladder PMID:15260848|REF_RGD_ID:2324651 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:9000081 Lymphatic Metastasis ISO RGD:737024 D RGD:9068941 20200609 RGD associated with chloangiocarcinoma;protein:increased expression:bile duct PMID:16842244|REF_RGD_ID:2325168 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:9000156 Metaplasia ISO RGD:737024 D RGD:9068941 20200609 RGD associated with Duodenal Diseases PMID:12612884|REF_RGD_ID:7364761 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:9000965 Neoplasm Metastasis ISO RGD:737024 D RGD:9068941 20200609 RGD associated with chloangiocarcinoma;protein:increased expression:bile duct PMID:16124042|REF_RGD_ID:2324987 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:9001472 Nasal Polyps ISO RGD:737024 D RGD:9068941 20200609 RGD PMID:15715404|REF_RGD_ID:7364740 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:9002992 Nematode Infections resistance ISO RGD:62001 D RGD:9068941 20200609 RGD PMID:22269441|REF_RGD_ID:7364747 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:9002992 Nematode Infections resistance ISO RGD:62293 D RGD:9068941 20200609 RGD mRNA:increased expression:cecum PMID:20138044|REF_RGD_ID:7349349 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:9003470 Picornaviridae Infections ISO RGD:62293 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive PMID:19748999|REF_RGD_ID:4145626 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:9003470 Picornaviridae Infections severity ISO RGD:737024 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20525715|REF_RGD_ID:5131431 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:737024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:9005941 Rhinosinusitis treatment ISO RGD:62001 D RGD:9068941 20200609 RGD PMID:19389874|PMID:23131200|REF_RGD_ID:7349403|REF_RGD_ID:7364734 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:9007425 Diffuse Panbronchiolitis ISO RGD:737024 D RGD:9068941 20200609 RGD protein:decreased expression:bronchiole epithelium PMID:15364771|REF_RGD_ID:7364741 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:9008821 Otitis Media with Effusion ISO RGD:1551003 D RGD:9068941 20200609 RGD mRNA:decreased expression:ear PMID:22336013|REF_RGD_ID:7364764 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:9008821 Otitis Media with Effusion ISO RGD:737024 D RGD:9068941 20200609 RGD mRNA:increased expression:middle ear PMID:20713760|REF_RGD_ID:7364731 11814707 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:9368 keratoconjunctivitis ISO RGD:737024 D RGD:9068941 20200609 RGD mRNA:decreased expression:conjunctival epithelial cell PMID:18782111|REF_RGD_ID:7364735 11814775 TRIQK triple QxxK/R motif containing gene DOID:630 genetic disease ISO RGD:2299991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814799 SLC26A2 solute carrier family 26 member 2 gene DOID:0050581 brachydactyly ISO RGD:732217 D RGD:9068941 20200609 RGD associated with Diastrophic Dysplasia;DNA:mutations:css:p.R279W, p.R178X, p.N425D,c.727-1G>C (human) PMID:21155763|REF_RGD_ID:11072411 11814799 SLC26A2 solute carrier family 26 member 2 gene DOID:0050648 atelosteogenesis ISO RGD:732217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atelosteogenesis 11814799 SLC26A2 solute carrier family 26 member 2 gene DOID:0060576 3MC syndrome 2 ISO RGD:732217 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: OSA syndrome PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11565064|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:16642506|PMID:18708426|PMID:18925670|PMID:19344236|PMID:20219950|PMID:20301483|PMID:20301493|PMID:20301524|PMID:20525296|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21922596|PMID:22052783|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29024831|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8931695|PMID:9342225 11814799 SLC26A2 solute carrier family 26 member 2 gene DOID:0070300 multiple epiphyseal dysplasia 4 ISO RGD:732217 D RGD:7240710 20180130 OMIM 11814799 SLC26A2 solute carrier family 26 member 2 gene DOID:0070300 multiple epiphyseal dysplasia 4 ISO RGD:732217 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellae | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia with double-layered patella PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11558903|PMID:11565064|PMID:11727031|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:15720248|PMID:16642506|PMID:17393463|PMID:18553123|PMID:18708426|PMID:18925670|PMID:19344236|PMID:20219950|PMID:20301483|PMID:20301493|PMID:20301524|PMID:20525296|PMID:20592910|PMID:20981092|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21228398|PMID:21922596|PMID:22052783|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:26077908|PMID:27065010|PMID:28492532|PMID:29024831|PMID:31880411|PMID:34064542|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8702127|PMID:8723100|PMID:8931695|PMID:9342225 11814799 SLC26A2 solute carrier family 26 member 2 gene DOID:0080006 bone development disease ISO RGD:732217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925670 11814799 SLC26A2 solute carrier family 26 member 2 gene DOID:0080043 achondrogenesis ISO RGD:732217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Achondrogenesis 11814799 SLC26A2 solute carrier family 26 member 2 gene DOID:0080055 achondrogenesis type IB ISO RGD:732217 D RGD:7240710 20180130 OMIM 11814799 SLC26A2 solute carrier family 26 member 2 gene DOID:0080055 achondrogenesis type IB ISO RGD:732217 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Achondrogenesis Fraccaro type | ClinVar Annotator: match by term: Achondrogenesis, type IB PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11558903|PMID:11565064|PMID:11727031|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:15720248|PMID:16642506|PMID:17393463|PMID:17576681|PMID:18708426|PMID:18925670|PMID:19344236|PMID:19763152|PMID:20219950|PMID:20301483|PMID:20301493|PMID:20301524|PMID:20307669|PMID:20525296|PMID:20592910|PMID:20981092|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21228398|PMID:21922596|PMID:22052783|PMID:22406018|PMID:23369989|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:26077908|PMID:27065010|PMID:28492532|PMID:29024831|PMID:30423444|PMID:31880411|PMID:32295296|PMID:34064542|PMID:4644462|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8702127|PMID:8723100|PMID:8931695|PMID:9342225|PMID:9536098 11814799 SLC26A2 solute carrier family 26 member 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732217 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11814799 SLC26A2 solute carrier family 26 member 2 gene DOID:14687 diastrophic dysplasia ISO RGD:732217 D RGD:7240710 20180130 OMIM 11814799 SLC26A2 solute carrier family 26 member 2 gene DOID:14687 diastrophic dysplasia ISO RGD:732217 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Diastrophic dwarfism | ClinVar Annotator: match by term: Diastrophic dysplasia | ClinVar Annotator: match by term: Sulfate transporter-related osteochondrodysplasia PMID:10465113|PMID:10466420|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11558903|PMID:11565064|PMID:11727031|PMID:12220459|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:15720248|PMID:16642506|PMID:17393463|PMID:18708426|PMID:18925670|PMID:19344236|PMID:20219950|PMID:20301483|PMID:20301493|PMID:20301524|PMID:20525296|PMID:20592910|PMID:20981092|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21228398|PMID:21922596|PMID:22052783|PMID:23369989|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:26752647|PMID:27065010|PMID:27848944|PMID:28492532|PMID:28941661|PMID:29024831|PMID:30423444|PMID:31880411|PMID:34064542|PMID:4644462|PMID:702237|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8702127|PMID:8702490|PMID:8723083|PMID:8723100|PMID:8931695|PMID:9342225 11814799 SLC26A2 solute carrier family 26 member 2 gene DOID:2256 osteochondrodysplasia ISO RGD:732217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteochondrodysplasia PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11558903|PMID:11565064|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:16642506|PMID:17393463|PMID:18708426|PMID:18925670|PMID:19344236|PMID:20219950|PMID:20301524|PMID:20525296|PMID:20592910|PMID:20981092|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21228398|PMID:21922596|PMID:22052783|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29024831|PMID:31880411|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8702127|PMID:8723100|PMID:8931695|PMID:9342225 11814799 SLC26A2 solute carrier family 26 member 2 gene DOID:2256 osteochondrodysplasia ISO RGD:732217 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Osteochondrodysplasia PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11558903|PMID:11565064|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:16642506|PMID:17393463|PMID:18708426|PMID:18925670|PMID:19344236|PMID:20219950|PMID:20301524|PMID:20525296|PMID:20981092|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21228398|PMID:21922596|PMID:22052783|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29024831|PMID:31880411|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8702127|PMID:8723100|PMID:8931695|PMID:9342225 11814799 SLC26A2 solute carrier family 26 member 2 gene DOID:2256 osteochondrodysplasia ISO RGD:732217 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Osteochondrodysplasia PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11558903|PMID:11565064|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:16642506|PMID:17393463|PMID:18708426|PMID:18925670|PMID:19344236|PMID:20219950|PMID:20301524|PMID:20525296|PMID:20981092|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21228398|PMID:21922596|PMID:22052783|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29024831|PMID:31880411|PMID:34064542|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8702127|PMID:8723100|PMID:8931695|PMID:9342225 11814799 SLC26A2 solute carrier family 26 member 2 gene DOID:2300 spondylolysis ISO RGD:732217 D RGD:9068941 20200609 RGD DNA:mutations:cds:c.2286A>T(p.D673V), c.1922A>G(p.H641R),g.18654T>C(human) PMID:26077908|REF_RGD_ID:13208868 11814799 SLC26A2 solute carrier family 26 member 2 gene DOID:2742 auditory system disease ISO RGD:732217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925670 11814799 SLC26A2 solute carrier family 26 member 2 gene DOID:630 genetic disease ISO RGD:732217 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11565064|PMID:12525546|PMID:15294877|PMID:15316973|PMID:16642506|PMID:20219950|PMID:20301483|PMID:20301493|PMID:20301524|PMID:21077202|PMID:21155763|PMID:22052783|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29024831|PMID:8571951|PMID:8931695|PMID:9342225 11814799 SLC26A2 solute carrier family 26 member 2 gene DOID:65 connective tissue disease ISO RGD:732217 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11558903|PMID:11565064|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:16642506|PMID:17393463|PMID:18708426|PMID:19344236|PMID:20219950|PMID:20301483|PMID:20301493|PMID:20301524|PMID:20525296|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21228398|PMID:21922596|PMID:22052783|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29024831|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8702127|PMID:8723100|PMID:8931695|PMID:9342225 11814799 SLC26A2 solute carrier family 26 member 2 gene DOID:676 juvenile rheumatoid arthritis susceptibility ISO RGD:732217 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:17393463|REF_RGD_ID:13208931 11814799 SLC26A2 solute carrier family 26 member 2 gene DOID:9001435 Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant ISO RGD:732217 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Diastrophic dysplasia, broad bone-platyspondylic variant PMID:10466420|PMID:12220459|PMID:20301524|PMID:702237|PMID:8723083 11814799 SLC26A2 solute carrier family 26 member 2 gene DOID:9002331 Knee Osteoarthritis susceptibility ISO RGD:732217 D RGD:9068941 20200609 RGD DNA:deletion:promoter:-716_-713del4A(human) PMID:11558903|REF_RGD_ID:13208866 11814799 SLC26A2 solute carrier family 26 member 2 gene DOID:9003358 Kyphosis ISO RGD:732217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925670 11814799 SLC26A2 solute carrier family 26 member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11814799 SLC26A2 solute carrier family 26 member 2 gene DOID:9006836 Contracture ISO RGD:732217 D RGD:9068941 20200609 RGD associated with Diastrophic Dysplasia;DNA:mutations:css:p.R279W, p.R178X, p.N425D,c.727-1G>C (human) PMID:21155763|REF_RGD_ID:11072411 11814799 SLC26A2 solute carrier family 26 member 2 gene DOID:9006897 Atelosteogenesis Type 2 ISO RGD:732217 D RGD:7240710 20180130 OMIM 11814799 SLC26A2 solute carrier family 26 member 2 gene DOID:9006897 Atelosteogenesis Type 2 ISO RGD:732217 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Atelosteogenesis type 2 | ClinVar Annotator: match by term: Atelosteogenesis type II | ClinVar Annotator: match by term: De la Chapelle dysplasia | ClinVar Annotator: match by term: NEONATAL OSSEOUS DYSPLASIA I | ClinVar Annotator: match by term: Neonatal osseous dysplasia 1 PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11558903|PMID:11565064|PMID:11727031|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:15720248|PMID:16642506|PMID:17393463|PMID:18708426|PMID:18925670|PMID:19344236|PMID:20219950|PMID:20301483|PMID:20301493|PMID:20301524|PMID:20525296|PMID:20592910|PMID:20981092|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21228398|PMID:21922596|PMID:22052783|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29024831|PMID:30423444|PMID:31880411|PMID:34064542|PMID:4644462|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8702127|PMID:8723100|PMID:8931695|PMID:9342225 11814799 SLC26A2 solute carrier family 26 member 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732217 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11814799 SLC26A2 solute carrier family 26 member 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925670 11814807 CCDC83 coiled-coil domain containing 83 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1606128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 11814807 CCDC83 coiled-coil domain containing 83 gene DOID:1059 intellectual disability ISO RGD:1606128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11814807 CCDC83 coiled-coil domain containing 83 gene DOID:630 genetic disease ISO RGD:1606128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814833 ZNF484 zinc finger protein 484 gene DOID:630 genetic disease ISO RGD:1350077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814843 DRAM1 DNA damage regulated autophagy modulator 1 gene DOID:630 genetic disease ISO RGD:1605066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814843 DRAM1 DNA damage regulated autophagy modulator 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11814854 FBN2 fibrillin 2 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:25741868|PMID:28492532 11814854 FBN2 fibrillin 2 gene DOID:0050646 distal arthrogryposis ISO RGD:733429 D RGD:9068941 20220825 MouseDO OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065 11814854 FBN2 fibrillin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:733428 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11814854 FBN2 fibrillin 2 gene DOID:0060249 scoliosis ISO RGD:733428 D RGD:9068941 20200609 RGD DNA:frameshift mutation, missense mutations:exon:multiple PMID:24833718|REF_RGD_ID:12910484 11814854 FBN2 fibrillin 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733428 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11814854 FBN2 fibrillin 2 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25558065 11814854 FBN2 fibrillin 2 gene DOID:0111595 congenital contractural arachnodactyly ISO RGD:733428 D RGD:7240710 20180130 OMIM 11814854 FBN2 fibrillin 2 gene DOID:0111595 congenital contractural arachnodactyly ISO RGD:733428 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Arachnodactyly, contractural Beals type | ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Congenital contractural arachnodactyly | ClinVar Annotator: match by term: Contractures, multiple with arachnodactyly | ClinVar Annotator: match by term: Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis PMID:10797416|PMID:11285249|PMID:11470817|PMID:11754102|PMID:15121784|PMID:16199547|PMID:16531736|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:20301560|PMID:20799338|PMID:22325249|PMID:22438950|PMID:23148498|PMID:24033266|PMID:24585410|PMID:24833718|PMID:24899048|PMID:25046119|PMID:25326635|PMID:25326637|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:27196565|PMID:28166811|PMID:28383543|PMID:28492532|PMID:28831199|PMID:29501612|PMID:29907982|PMID:29926239|PMID:30029678|PMID:30675029|PMID:31096651|PMID:31316167|PMID:31506931|PMID:32123317|PMID:32277046|PMID:32534992|PMID:32702406|PMID:33340101|PMID:33435129|PMID:33571691|PMID:33638605|PMID:33895855|PMID:34008892|PMID:3495735|PMID:4750422|PMID:7493032|PMID:7633409|PMID:8653794|PMID:8900230|PMID:9106527|PMID:9199560|PMID:9536098|PMID:9605585|PMID:9737771 11814854 FBN2 fibrillin 2 gene DOID:0111603 distal arthrogryposis type 7 ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Hecht syndrome PMID:11754102|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:22325249|PMID:23148498|PMID:24033266|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:28166811|PMID:28492532|PMID:29926239|PMID:34008892|PMID:3495735|PMID:4750422|PMID:8653794|PMID:9536098 11814854 FBN2 fibrillin 2 gene DOID:0111603 distal arthrogryposis type 7 ISO RGD:733428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Hecht syndrome PMID:11754102|PMID:16199547|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:22325249|PMID:23148498|PMID:24033266|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:28166811|PMID:28492532|PMID:28831199|PMID:29907982|PMID:29926239|PMID:30675029|PMID:31096651|PMID:31316167|PMID:33435129|PMID:34008892|PMID:3495735|PMID:4750422|PMID:8653794|PMID:9536098 11814854 FBN2 fibrillin 2 gene DOID:10283 prostate cancer ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11814854 FBN2 fibrillin 2 gene DOID:10941 intracranial aneurysm ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brain aneurysm PMID:16835936|PMID:19006240|PMID:25525159|PMID:25741868|PMID:26038974|PMID:28492532 11814854 FBN2 fibrillin 2 gene DOID:11193 syndactyly ISO RGD:733429 D RGD:9068941 20200609 RGD PMID:11285249|REF_RGD_ID:1300320 11814854 FBN2 fibrillin 2 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:733428 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:16835936|PMID:17345643|PMID:17935258|PMID:18414213|PMID:19006240|PMID:23148498|PMID:24033266|PMID:24833718|PMID:24899048|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26038974|PMID:26257771|PMID:28492532|PMID:28831199|PMID:31096651|PMID:32534992|PMID:33435129 11814854 FBN2 fibrillin 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11536364|PMID:11754102|PMID:12511552|PMID:16199547|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:22325249|PMID:23148498|PMID:24033266|PMID:24035709|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:27625873|PMID:28166811|PMID:28492532|PMID:28831199|PMID:29907982|PMID:29910053|PMID:29926239|PMID:30675029|PMID:31096651|PMID:31316167|PMID:31506931|PMID:33435129|PMID:34008892|PMID:3495735|PMID:4750422|PMID:7606779|PMID:8653794|PMID:8900230|PMID:9054436|PMID:9536098 11814854 FBN2 fibrillin 2 gene DOID:14323 Marfan syndrome ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532|PMID:29501612 11814854 FBN2 fibrillin 2 gene DOID:2340 craniosynostosis ISO RGD:733428 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Craniosynostosis PMID:25741868|PMID:28492532 11814854 FBN2 fibrillin 2 gene DOID:520 aortic disease ISO RGD:733428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial aortopathy 11814854 FBN2 fibrillin 2 gene DOID:630 genetic disease ISO RGD:733428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10797416|PMID:11754102|PMID:16531736|PMID:19006240|PMID:24899048|PMID:25741868|PMID:28383543|PMID:28492532|PMID:8653794|PMID:8900230 11814854 FBN2 fibrillin 2 gene DOID:65 connective tissue disease ISO RGD:733428 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:16835936|PMID:17345643|PMID:17935258|PMID:18414213|PMID:19006240|PMID:23148498|PMID:24033266|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:28492532|PMID:33435129 11814854 FBN2 fibrillin 2 gene DOID:9001528 ARTERIAL DISSECTION ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arterial dissection 11814854 FBN2 fibrillin 2 gene DOID:9002189 High Myopia ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11814854 FBN2 fibrillin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 11814854 FBN2 fibrillin 2 gene DOID:9006437 Macular Degeneration, Early-Onset ISO RGD:733428 D RGD:7240710 20180130 OMIM 11814854 FBN2 fibrillin 2 gene DOID:9006437 Macular Degeneration, Early-Onset ISO RGD:733428 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Macular degeneration, early-onset PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:19006240|PMID:23148498|PMID:24033266|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:26038974|PMID:26133393|PMID:26257771|PMID:28166811|PMID:28492532|PMID:28831199|PMID:29926239|PMID:31096651|PMID:9536098 11814854 FBN2 fibrillin 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11814854 FBN2 fibrillin 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733428 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11814854 FBN2 fibrillin 2 gene DOID:9008086 Developmental Disabilities ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:30311386 11814854 FBN2 fibrillin 2 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:733428 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:28492532 11814854 FBN2 fibrillin 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 11814854 FBN2 fibrillin 2 gene DOID:9009005 Familial Thoracic Aortic Aneurysm 2 ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 11814930 SLC35E3 solute carrier family 35 member E3 gene DOID:630 genetic disease ISO RGD:1352847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814942 RAB11FIP5 RAB11 family interacting protein 5 gene DOID:0050473 Alstrom syndrome ISO RGD:1346029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 11814942 RAB11FIP5 RAB11 family interacting protein 5 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1346029 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11814942 RAB11FIP5 RAB11 family interacting protein 5 gene DOID:0080600 COVID-19 ISO RGD:1346029 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11814942 RAB11FIP5 RAB11 family interacting protein 5 gene DOID:12849 autistic disorder ISO RGD:1346029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18384058 11814942 RAB11FIP5 RAB11 family interacting protein 5 gene DOID:543 dystonia ISO RGD:1346029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11814942 RAB11FIP5 RAB11 family interacting protein 5 gene DOID:630 genetic disease ISO RGD:1346029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814942 RAB11FIP5 RAB11 family interacting protein 5 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1346029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11814957 LOC100970755 keratin-associated protein 17-1 gene DOID:630 genetic disease ISO RGD:1343387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:0050777 Joubert syndrome ISO RGD:1316979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:0080171 esophageal atresia/tracheoesophageal fistula ISO RGD:1316979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19763819|PMID:20177395|PMID:20639400|PMID:21165771|PMID:21345144|PMID:21964575|PMID:22006311|PMID:24240112|PMID:2455662|PMID:24556621|PMID:25741868|PMID:25980754|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:27179029|PMID:28492532|PMID:29368626|PMID:32359370|PMID:32885271|PMID:33471991|PMID:34026625|PMID:34585738|PMID:36988593 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:0080764 hereditary diffuse gastric cancer ISO RGD:1316979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary diffuse gastric cancer PMID:25741868|PMID:26315354|PMID:26467025|PMID:26976419|PMID:28135145|PMID:28492532|PMID:30333958|PMID:32885271 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1316979 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868|PMID:28492532 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:0111097 Fanconi anemia complementation group J ISO RGD:1316979 D RGD:7240710 20180130 OMIM 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:0111097 Fanconi anemia complementation group J ISO RGD:1316979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group J PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25846551|PMID:25980754|PMID:25981591|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26296696|PMID:26315354|PMID:26416542|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28991257|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30154229|PMID:30230034|PMID:30254378|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30716324|PMID:30728895|PMID:30833958|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31265121|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31742824|PMID:31786208|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32231423|PMID:32242007|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32830346|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33028645|PMID:33120919|PMID:33134171|PMID:33224012|PMID:33309985|PMID:33313162|PMID:33359728|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:33646313|PMID:33804961|PMID:33840814|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34072463|PMID:34204722|PMID:34284872|PMID:34585738|PMID:34607609|PMID:35186721|PMID:35205822|PMID:35263119|PMID:35467778|PMID:35734982|PMID:35986085 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:0111097 Fanconi anemia complementation group J ISO RGD:1316979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group J PMID:36988593|PMID:9536098 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:10534 stomach cancer ISO RGD:1316979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19339519|PMID:19763819|PMID:20068231|PMID:20159562|PMID:20177395|PMID:20639400|PMID:21127055|PMID:21165771|PMID:21345144|PMID:21964575|PMID:22006311|PMID:22792074|PMID:24240112|PMID:2455662|PMID:24556621|PMID:25646469|PMID:25741868|PMID:25877891|PMID:25980754|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:27179029|PMID:27498913|PMID:28492532|PMID:28495237|PMID:29368626|PMID:29752822|PMID:29922827|PMID:30792206|PMID:30982232|PMID:31214711|PMID:31742824|PMID:32359370|PMID:32566746|PMID:32885271|PMID:32980694|PMID:33313162|PMID:33413596|PMID:33471991|PMID:33619228|PMID:34026625|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35986085|PMID:36988593 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1316979 D RGD:9068941 20200609 RGD associated with Down Syndrome;protein:increased ubiquitination:frontal cortex (human) PMID:25391381|REF_RGD_ID:11252150 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:11372 megacolon ISO RGD:1316979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:13636 Fanconi anemia ISO RGD:1316979 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19763819|PMID:20177395|PMID:20639400|PMID:21165771|PMID:21345144|PMID:21964575|PMID:22006311|PMID:24240112|PMID:2455662|PMID:24556621|PMID:25741868|PMID:25980754|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:27179029|PMID:28492532|PMID:29368626|PMID:32359370|PMID:32885271|PMID:33471991|PMID:34026625|PMID:34585738 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:13636 Fanconi anemia ISO RGD:1316979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19763819|PMID:20177395|PMID:20639400|PMID:21165771|PMID:21345144|PMID:21964575|PMID:22006311|PMID:24240112|PMID:2455662|PMID:24556621|PMID:25741868|PMID:25980754|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:27179029|PMID:28492532|PMID:29368626|PMID:32359370|PMID:32885271|PMID:33471991|PMID:34026625|PMID:34585738|PMID:36988593 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:14250 Down syndrome ISO RGD:1316979 D RGD:9068941 20200609 RGD protein:increased ubiquitination:frontal cortex (human) PMID:25391381|REF_RGD_ID:11252150 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:1520 colon carcinoma ISO RGD:1316979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:16116423|PMID:16280053|PMID:17033622|PMID:18483852|PMID:21964575|PMID:22264603|PMID:24728327|PMID:25058500|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26709662|PMID:26790966|PMID:27107905|PMID:27165003|PMID:27471560|PMID:28492532|PMID:30256826|PMID:30306255|PMID:31214711|PMID:31366178|PMID:31786208 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:1588 thrombocytopenia ISO RGD:1316979 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:15613547|REF_RGD_ID:11252148 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer ISO RGD:1316979 D RGD:7240710 20180711 OMIM 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer ISO RGD:1316979 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20159562|PMID:20177395|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23644138|PMID:23935105|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24487782|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25722345|PMID:25741868|PMID:25980754|PMID:26140431|PMID:26206375|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26681312|PMID:26689913|PMID:26709662|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27378695|PMID:27462233|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27978560|PMID:28135145|PMID:28202063|PMID:28423363|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28783718|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29053726|PMID:29335925|PMID:29360161|PMID:29368626|PMID:29625052|PMID:29641532|PMID:29922827|PMID:30086788|PMID:30093976|PMID:30230034|PMID:30262796|PMID:30264118|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30651582|PMID:30982232|PMID:31159747|PMID:31214711|PMID:31265121|PMID:31300551|PMID:31341520|PMID:31422574|PMID:31512090|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31882575|PMID:32019284|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32566746|PMID:32659497|PMID:32959997|PMID:33471991|PMID:33619228|PMID:9536098 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer ISO RGD:1316979 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17145708|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18628483|PMID:18978354|PMID:19127258|PMID:19197335|PMID:19339519|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20159562|PMID:20177395|PMID:20639400|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22792074|PMID:23555315|PMID:23644138|PMID:24123366|PMID:24240112|PMID:24448499|PMID:2455662|PMID:24556621|PMID:24584348|PMID:24728327|PMID:24755471|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25722345|PMID:25741868|PMID:25980754|PMID:26140431|PMID:26206375|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26681312|PMID:26689913|PMID:26709662|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27378695|PMID:27462233|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27978560|PMID:28135145|PMID:28202063|PMID:28423363|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28783718|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29053726|PMID:29335925|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30230034|PMID:30262796|PMID:30264118|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30613976|PMID:30651582|PMID:30982232|PMID:31159747|PMID:31214711|PMID:31300551|PMID:31422574|PMID:31512090|PMID:31589614|PMID:31642931|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31882575|PMID:32019284|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32959997|PMID:33028645|PMID:33471991|PMID:33619228|PMID:9536098 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer ISO RGD:1316979 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17145708|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18628483|PMID:18978354|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20177395|PMID:20639400|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22792074|PMID:23555315|PMID:23644138|PMID:24123366|PMID:24240112|PMID:24448499|PMID:2455662|PMID:24556621|PMID:24584348|PMID:24728327|PMID:24755471|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25722345|PMID:25741868|PMID:25980754|PMID:26140431|PMID:26206375|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26681312|PMID:26689913|PMID:26709662|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27378695|PMID:27462233|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27978560|PMID:28135145|PMID:28202063|PMID:28423363|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28783718|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29053726|PMID:29335925|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30230034|PMID:30262796|PMID:30264118|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30613976|PMID:30651582|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31300551|PMID:31422574|PMID:31512090|PMID:31589614|PMID:31642931|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31882575|PMID:32019284|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32885271|PMID:32959997|PMID:33028645|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:34026625|PMID:34284872|PMID:34585738|PMID:35467778|PMID:9536098 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer ISO RGD:1316979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17145708|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18628483|PMID:18978354|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20177395|PMID:20639400|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22792074|PMID:23555315|PMID:23644138|PMID:24123366|PMID:24240112|PMID:24448499|PMID:2455662|PMID:24556621|PMID:24584348|PMID:24728327|PMID:24755471|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25722345|PMID:25741868|PMID:25980754|PMID:26140431|PMID:26206375|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26681312|PMID:26689913|PMID:26709662|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27462233|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27978560|PMID:28135145|PMID:28202063|PMID:28423363|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28783718|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29053726|PMID:29335925|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30230034|PMID:30262796|PMID:30264118|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30613976|PMID:30651582|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31300551|PMID:31422574|PMID:31512090|PMID:31589614|PMID:31642931|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31882575|PMID:32019284|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32885271|PMID:32959997|PMID:33028645|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33606809|PMID:33619228|PMID:33980423|PMID:34026625|PMID:34072463|PMID:34284872|PMID:34585738|PMID:35205822|PMID:35467778|PMID:35734982|PMID:35986085|PMID:36988593|PMID:9536098 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer onset ISO RGD:1316979 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.P47A, p.M299I (human) PMID:11301010|REF_RGD_ID:1600525 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1316979 D RGD:9068941 20230511 RGD DNA:mutations:multiple (human) PMID:17033622|REF_RGD_ID:11252107 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1316979 D RGD:9068941 20230511 RGD DNA:snp:3' utr:C>A (rs7220740) (human) PMID:19536649|REF_RGD_ID:11252100 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1316979 D RGD:9068941 20230511 RGD DNA:snps, haplotype:introns:c.1935+977T>C, c.1473+3729A>G, c.1340+109G>A (rs11871753, rs16945628, rs2191248) (human) PMID:23357080|REF_RGD_ID:11252109 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:2394 ovarian cancer ISO RGD:1316979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19763819|PMID:20159562|PMID:20177395|PMID:20639400|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21964575|PMID:22006311|PMID:23555315|PMID:24240112|PMID:2455662|PMID:24556621|PMID:24728327|PMID:25186627|PMID:25741868|PMID:25783483|PMID:25980754|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26968956|PMID:27179029|PMID:27498913|PMID:28492532|PMID:28495237|PMID:29368626|PMID:29470806|PMID:29929473|PMID:30093976|PMID:30982232|PMID:31214711|PMID:31666926|PMID:32359370|PMID:32566746|PMID:32885271|PMID:33313162|PMID:33471991|PMID:33619228|PMID:34026625|PMID:34585738|PMID:36988593 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:3459 breast carcinoma ISO RGD:1316979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:12872252|PMID:16116423|PMID:16199547|PMID:17033622|PMID:18628483|PMID:19935797|PMID:20159562|PMID:21127055|PMID:21345144|PMID:21964575|PMID:23555315|PMID:24728327|PMID:25741868|PMID:26315354|PMID:26467025|PMID:26921362|PMID:28135145|PMID:28423363|PMID:28492532|PMID:28767289|PMID:28961279|PMID:29368626|PMID:29641532|PMID:30322717|PMID:30414346|PMID:30426508|PMID:30651582|PMID:30982232|PMID:31159747|PMID:31300551|PMID:31325073|PMID:32283892|PMID:32658311|PMID:32659497|PMID:32885271|PMID:33471991|PMID:33840814|PMID:34284872|PMID:35467778 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:3744 cervical squamous cell carcinoma severity ISO RGD:1316979 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:uterine cervix, nucleus (human) PMID:24708616|REF_RGD_ID:11252104 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:4362 cervical cancer ISO RGD:1316979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cancer of cervix PMID:18483852|PMID:25741868|PMID:26467025|PMID:26790966|PMID:28492532|PMID:31214711|PMID:32566746 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:4905 pancreatic carcinoma ISO RGD:1316979 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:16116423|PMID:17033622|PMID:21964575|PMID:25330149|PMID:25741868|PMID:28492532|PMID:29961768|PMID:31173646|PMID:31512090|PMID:31589614|PMID:32295079|PMID:32885271|PMID:33471991 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12565990|PMID:12569564|PMID:12872252|PMID:16116423|PMID:16116424|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17342202|PMID:18414782|PMID:18483852|PMID:18628483|PMID:19127258|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20159562|PMID:20168331|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23555315|PMID:23613520|PMID:23644138|PMID:24033266|PMID:24123366|PMID:24448499|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25503501|PMID:25646469|PMID:25741868|PMID:25783483|PMID:25980754|PMID:26207792|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29263802|PMID:29338689|PMID:29368626|PMID:29625052|PMID:29667044|PMID:29922827|PMID:29929473|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30374176|PMID:30728895|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31214711|PMID:31558676|PMID:31666926|PMID:31822495|PMID:31844177|PMID:31871109|PMID:32019284|PMID:32295079|PMID:32359370|PMID:32566746|PMID:32959997|PMID:33309985|PMID:33471991 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12565990|PMID:12569564|PMID:12872252|PMID:16116423|PMID:16116424|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17342202|PMID:18414782|PMID:18483852|PMID:18628483|PMID:19127258|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20159562|PMID:20168331|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23555315|PMID:23613520|PMID:23644138|PMID:24033266|PMID:24123366|PMID:24448499|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25503501|PMID:25646469|PMID:25741868|PMID:25783483|PMID:25980754|PMID:26207792|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29263802|PMID:29338689|PMID:29368626|PMID:29625052|PMID:29667044|PMID:29922827|PMID:29929473|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30374176|PMID:30728895|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31214711|PMID:31558676|PMID:31586946|PMID:31666926|PMID:31822495|PMID:31844177|PMID:31871109|PMID:32019284|PMID:32295079|PMID:32359370|PMID:32566746|PMID:32959997|PMID:33309985|PMID:33471991|PMID:33619228|PMID:35039564 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12565990|PMID:12569564|PMID:12872252|PMID:16116423|PMID:16116424|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17342202|PMID:18414782|PMID:18483852|PMID:18628483|PMID:19127258|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20159562|PMID:20168331|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23555315|PMID:23613520|PMID:23644138|PMID:24033266|PMID:24123366|PMID:24448499|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25503501|PMID:25646469|PMID:25741868|PMID:25783483|PMID:25980754|PMID:26207792|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29667044|PMID:29922827|PMID:29929473|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30728895|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31214711|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32255556|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33619228|PMID:35039564 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12565990|PMID:12569564|PMID:12872252|PMID:16116423|PMID:16116424|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17342202|PMID:18414782|PMID:18483852|PMID:18628483|PMID:19127258|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20159562|PMID:20168331|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23555315|PMID:23613520|PMID:23644138|PMID:24033266|PMID:24123366|PMID:24448499|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25503501|PMID:25646469|PMID:25741868|PMID:25783483|PMID:25980754|PMID:26207792|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29667044|PMID:29922827|PMID:29929473|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30728895|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31214711|PMID:31325073|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32255556|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33619228|PMID:33840814|PMID:35039564 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12565990|PMID:12569564|PMID:12872252|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17342202|PMID:18414782|PMID:18483852|PMID:18510924|PMID:18628483|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20159562|PMID:20168331|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24448499|PMID:24487782|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25741868|PMID:25783483|PMID:25980754|PMID:26207792|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29667044|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30728895|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32255556|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33028645|PMID:33309985|PMID:33471991|PMID:33619228|PMID:33840814|PMID:34585738|PMID:35039564 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12565990|PMID:12569564|PMID:12872252|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17342202|PMID:18414782|PMID:18483852|PMID:18510924|PMID:18628483|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24448499|PMID:24487782|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25877891|PMID:25980754|PMID:26207792|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30254378|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30728895|PMID:30792206|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33552952|PMID:33619228|PMID:33840814|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12565990|PMID:12569564|PMID:12872252|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17342202|PMID:18414782|PMID:18483852|PMID:18510924|PMID:18628483|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24448499|PMID:24487782|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25877891|PMID:25980754|PMID:26207792|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27193682|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30254378|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30728895|PMID:30792206|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33552952|PMID:33619228|PMID:33840814|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12565990|PMID:12569564|PMID:12872252|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17342202|PMID:18414782|PMID:18483852|PMID:18510924|PMID:18628483|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24448499|PMID:24487782|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25877891|PMID:25980754|PMID:26207792|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27193682|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30254378|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30728895|PMID:30792206|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33552952|PMID:33619228|PMID:33646313|PMID:33840814|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25877891|PMID:25980754|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29053726|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29752822|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30254378|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30651582|PMID:30728895|PMID:30792206|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33120919|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:33646313|PMID:33840814|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34072463|PMID:34284872|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564|PMID:35205822|PMID:35467778|PMID:35734982 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25877891|PMID:25980754|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29053726|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29752822|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30254378|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30651582|PMID:30728895|PMID:30792206|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33120919|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:33646313|PMID:33840814|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34072463|PMID:34284872|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564|PMID:35205822|PMID:35467778|PMID:35734982|PMID:35986085|PMID:36988593 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:630 genetic disease ISO RGD:1316979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:893 Wilson disease ISO RGD:1316979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hepatolenticular degeneration PMID:17033622|PMID:25186627|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26921362|PMID:28135145|PMID:28492532|PMID:28767289|PMID:31822495|PMID:32659497|PMID:33471991 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1316979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18628483|PMID:18978354|PMID:19127258|PMID:19197335|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20177395|PMID:20639400|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22792074|PMID:23161009|PMID:23555315|PMID:23644138|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24448499|PMID:2455662|PMID:24556621|PMID:24584348|PMID:24728327|PMID:25186627|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25722345|PMID:25741868|PMID:25807282|PMID:25980754|PMID:25981591|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26681312|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27153395|PMID:27179029|PMID:27443514|PMID:27462233|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28873162|PMID:28911102|PMID:28991257|PMID:29053726|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29788478|PMID:29922827|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30254378|PMID:30256826|PMID:30262796|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30651582|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31589614|PMID:31742824|PMID:31822495|PMID:31843900|PMID:31871109|PMID:31980526|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32830346|PMID:32885271|PMID:32959997|PMID:33028645|PMID:33134171|PMID:33309985|PMID:33359728|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:33980423|PMID:34026625|PMID:34072463|PMID:34204722|PMID:34284872|PMID:34585738|PMID:35205822|PMID:35467778|PMID:35734982|PMID:35986085|PMID:36988593 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:1316979 D RGD:9068941 20200609 RGD DNA:snps:introns:c.2158-13912A>C, c.508-31C>G (rs2191249,rs4988344) (human) PMID:17342202|REF_RGD_ID:11251782 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:9004158 diffuse intrinsic pontine glioma ISO RGD:1316979 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma PMID:16116424|PMID:16116426|PMID:16973432|PMID:18510924|PMID:19099189|PMID:19150983|PMID:19379763|PMID:19442249|PMID:19519404|PMID:20639400|PMID:20980836|PMID:21345144|PMID:22024395|PMID:22287629|PMID:22582397|PMID:23161009|PMID:23276657|PMID:23644138|PMID:23935105|PMID:24448499|PMID:24487782|PMID:24573678|PMID:24728327|PMID:24895130|PMID:25374583|PMID:25583461|PMID:25741868|PMID:26315354|PMID:26596371|PMID:26689913|PMID:26790966|PMID:26921362|PMID:27107905|PMID:28492532|PMID:28911102|PMID:29922827|PMID:30322717|PMID:31265121|PMID:31341520|PMID:31822495|PMID:32427313|PMID:32542039|PMID:33028645|PMID:33471991|PMID:33619228|PMID:34585738 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:9004590 Acute Liver Failure ISO RGD:1307659 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:24748974|REF_RGD_ID:10755718 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15125843|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25846551|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28888541|PMID:28911102|PMID:28961279|PMID:29020732|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29515789|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30230034|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30651582|PMID:30728895|PMID:30833958|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31666926|PMID:31786208|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:32019284|PMID:32231423|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32566746|PMID:32659497|PMID:32959997|PMID:33309985|PMID:33471991|PMID:33804961|PMID:34204722|PMID:34299313|PMID:9536098 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15125843|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25846551|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28888541|PMID:28911102|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29515789|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:30031030|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30230034|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30651582|PMID:30728895|PMID:30833958|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263571|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31666926|PMID:31786208|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:32019284|PMID:32091409|PMID:32231423|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32566746|PMID:32659497|PMID:32959997|PMID:33028645|PMID:33309985|PMID:33471991|PMID:33619228|PMID:33804961|PMID:34011307|PMID:34204722|PMID:34299313|PMID:35039564|PMID:9536098 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15125843|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25846551|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28961279|PMID:28991257|PMID:29020732|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29515789|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29961768|PMID:30031030|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30154229|PMID:30230034|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30716324|PMID:30728895|PMID:30833958|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263571|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31742824|PMID:31786208|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32231423|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32659497|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33028645|PMID:33120919|PMID:33134171|PMID:33309985|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33619228|PMID:33804961|PMID:34011307|PMID:34034685|PMID:34204722|PMID:34299313|PMID:35039564|PMID:9536098 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15125843|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25846551|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26416542|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28961279|PMID:28991257|PMID:29020732|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29485843|PMID:29515789|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30031030|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30154229|PMID:30230034|PMID:30254378|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30716324|PMID:30728895|PMID:30792206|PMID:30833958|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263571|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31742824|PMID:31786208|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31970404|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32231423|PMID:32242007|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32761968|PMID:32830346|PMID:32832836|PMID:32866190|PMID:32885271 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33120919|PMID:33134171|PMID:33309985|PMID:33313162|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:33804961|PMID:33840814|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34204722|PMID:34284872|PMID:34299313|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564|PMID:35402282|PMID:35467778|PMID:9536098 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15125843|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25846551|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26416542|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27854218|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28961279|PMID:28991257|PMID:29020732|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29515789|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30031030|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30154229|PMID:30230034|PMID:30254378|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30716324|PMID:30728895|PMID:30792206|PMID:30833958|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263571|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31742824|PMID:31786208|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31970404|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32231423|PMID:32242007|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32761968|PMID:32830346|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32957588 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33120919|PMID:33134171|PMID:33309985|PMID:33313162|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:33646313|PMID:33804961|PMID:33840814|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34072463|PMID:34204722|PMID:34284872|PMID:34299313|PMID:34585738|PMID:34607609|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564|PMID:35186721|PMID:35205822|PMID:35263119|PMID:35402282|PMID:35467778|PMID:35734982|PMID:9536098 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15125843|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25846551|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26416542|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28961279|PMID:28991257|PMID:29020732|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29515789|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30031030|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30154229|PMID:30230034|PMID:30254378|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30716324|PMID:30728895|PMID:30792206|PMID:30833958|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263571|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31742824|PMID:31786208|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31970404|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32231423|PMID:32242007|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32761968|PMID:32830346|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32957588 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33120919|PMID:33134171|PMID:33309985|PMID:33313162|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33606809|PMID:33619228|PMID:33646313|PMID:33804961|PMID:33840814|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34072463|PMID:34204722|PMID:34284872|PMID:34299313|PMID:34585738|PMID:34607609|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564|PMID:35186721|PMID:35205822|PMID:35263119|PMID:35402282|PMID:35467778|PMID:35734982|PMID:35986085|PMID:36200007|PMID:36988593|PMID:9536098 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:9007480 Hyperoxia ISO RGD:1550783 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:18948842|REF_RGD_ID:11252154 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:9007482 Bone Metastasis ISO RGD:1316979 D RGD:9068941 20200609 RGD associated with Breast Neoplasms; human gene in a mouse model PMID:22875853|REF_RGD_ID:11252149 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1316979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19763819|PMID:20177395|PMID:20639400|PMID:21165771|PMID:21345144|PMID:21964575|PMID:22006311|PMID:24240112|PMID:2455662|PMID:24556621|PMID:25741868|PMID:25980754|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:27179029|PMID:28492532|PMID:29368626|PMID:32359370|PMID:32885271|PMID:33471991|PMID:34026625|PMID:34585738|PMID:36988593 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1316979 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19763819|PMID:20177395|PMID:20639400|PMID:21165771|PMID:21345144|PMID:21964575|PMID:22006311|PMID:24240112|PMID:2455662|PMID:24556621|PMID:25741868|PMID:25980754|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:27179029|PMID:28492532|PMID:28961279|PMID:29368626|PMID:32359370|PMID:32885271|PMID:33471991|PMID:34026625|PMID:34585738 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1316979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19763819|PMID:20177395|PMID:20639400|PMID:21165771|PMID:21345144|PMID:21964575|PMID:22006311|PMID:24240112|PMID:2455662|PMID:24556621|PMID:25741868|PMID:25980754|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:27179029|PMID:28492532|PMID:28961279|PMID:29368626|PMID:32359370|PMID:32885271|PMID:33471991|PMID:34026625|PMID:34585738|PMID:36988593 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1316979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:11301010|PMID:11865300|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14576433|PMID:14983014|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763152|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20307669|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21398687|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22406018|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23320739|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25640679|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25846551|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26416542|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26691941|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28300276|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28783718|PMID:28796317|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28961279|PMID:28991257|PMID:29020732|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29515789|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30031030|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30154229|PMID:30230034|PMID:30254378|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30716324|PMID:30728895|PMID:30792206|PMID:30809968|PMID:30833958|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263571|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31742824|PMID:31786208|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31970404|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32231423|PMID:32242007|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32427313 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1316979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32761968|PMID:32830346|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33120919|PMID:33134171|PMID:33224012|PMID:33309985|PMID:33313162|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33606809|PMID:33619228|PMID:33646313|PMID:33804961|PMID:33840814|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34072463|PMID:34204722|PMID:34284872|PMID:34299313|PMID:34585738|PMID:34607609|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564|PMID:35186721|PMID:35205822|PMID:35263119|PMID:35402282|PMID:35467778|PMID:35734982|PMID:35986085|PMID:36200007|PMID:36988593|PMID:9536098 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:9256 colorectal cancer ISO RGD:1316979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:28492532|PMID:30809968 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:9256 colorectal cancer severity ISO RGD:1316979 D RGD:9068941 20200609 RGD mRNA:increased expression:colon epithelium (human) PMID:22526901|REF_RGD_ID:11252117 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1316979 D RGD:9068941 20200609 RGD DNA:frameshift mutation:cds:p.N568fsX9 (human) PMID:27165003|REF_RGD_ID:11252105 11814962 BRIP1 BRCA1 interacting helicase 1 gene DOID:9460 uterine corpus cancer ISO RGD:1316979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:16116423|PMID:17033622|PMID:21964575|PMID:24728327|PMID:25452441|PMID:25741868|PMID:25807282|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26845104|PMID:26921362|PMID:28492532|PMID:30254378|PMID:32295079|PMID:33471991 11814996 GPD2 glycerol-3-phosphate dehydrogenase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:737186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11814996 GPD2 glycerol-3-phosphate dehydrogenase 2 gene DOID:0080600 COVID-19 ISO RGD:737186 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11814996 GPD2 glycerol-3-phosphate dehydrogenase 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:737186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:9070847 11814996 GPD2 glycerol-3-phosphate dehydrogenase 2 gene DOID:11476 osteoporosis ISO RGD:737186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 11814996 GPD2 glycerol-3-phosphate dehydrogenase 2 gene DOID:14749 methylmalonic acidemia ISO RGD:737186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 11814996 GPD2 glycerol-3-phosphate dehydrogenase 2 gene DOID:630 genetic disease ISO RGD:737186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11814996 GPD2 glycerol-3-phosphate dehydrogenase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 11814996 GPD2 glycerol-3-phosphate dehydrogenase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:9070847 11814996 GPD2 glycerol-3-phosphate dehydrogenase 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737186 D RGD:7240710 20230505 OMIM 11815025 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:0080338 familial erythrocytosis 3 ISO RGD:735297 D RGD:7240710 20180130 OMIM 11815025 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:0080338 familial erythrocytosis 3 ISO RGD:735297 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Erythrocytosis, familial, 3 PMID:16407130|PMID:17576681|PMID:17579185|PMID:19092153|PMID:24115288|PMID:24482100|PMID:25741868|PMID:28492532|PMID:29741264|PMID:29790589|PMID:9536098 11815025 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:10763 hypertension ISO RGD:631375 D RGD:9068941 20200609 RGD PMID:22686466|REF_RGD_ID:11252087 11815025 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:10780 primary polycythemia ISO RGD:735297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial erythrocytosis 11815025 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1332220 D RGD:9068941 20200609 RGD PMID:18096761|REF_RGD_ID:11251770 11815025 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:735297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11815025 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:1936 atherosclerosis treatment ISO RGD:1332220 D RGD:9068941 20200609 RGD PMID:26848160|REF_RGD_ID:11251766 11815025 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:3021 acute kidney failure ISO RGD:631375 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:19349364|REF_RGD_ID:11252083 11815025 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:3602 toxic encephalopathy ISO RGD:735297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29471019 11815025 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:4450 renal cell carcinoma ISO RGD:735297 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:20978146|REF_RGD_ID:13504705 11815025 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:5844 myocardial infarction ISO RGD:631375 D RGD:9068941 20200609 RGD PMID:16765982|REF_RGD_ID:11252084 11815025 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:630 genetic disease ISO RGD:735297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11815025 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:8432 polycythemia ISO RGD:1332220 D RGD:9068941 20200609 RGD PMID:24121508|REF_RGD_ID:11251767 11815025 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:8432 polycythemia ISO RGD:735297 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.P317R (950C>G) (human) PMID:16407130|REF_RGD_ID:11251771 11815025 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:8432 polycythemia ISO RGD:735297 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.W334R (c.1000 T>C) (human) PMID:23859443|REF_RGD_ID:11073369 11815025 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:8432 polycythemia ISO RGD:735297 D RGD:9068941 20200609 RGD DNA:missense mutations, nonsense mutation: :multiple PMID:21933857|REF_RGD_ID:11251769 11815025 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:8432 polycythemia ISO RGD:735297 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.N203K, p.K291L, p.K423E (human) PMID:21828119|REF_RGD_ID:11251768 11815025 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:631375 D RGD:9068941 20200609 RGD PMID:16761101|REF_RGD_ID:11252085 11815025 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:631375 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:19349364|REF_RGD_ID:11252083 11815025 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735297 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:21933857|PMID:24115288|PMID:27774468|PMID:28492532|PMID:29790589 11815025 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735297 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21933857|PMID:24115288|PMID:25741868|PMID:27774468|PMID:28492532|PMID:29790589 11815025 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:735297 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 11815025 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:9007838 Myocardial Reperfusion Injury susceptibility ISO RGD:1332220 D RGD:9068941 20200609 RGD PMID:20185832|REF_RGD_ID:11251775 11815025 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:9009039 Hyperemia ISO RGD:1332220 D RGD:9068941 20200609 RGD PMID:18096761|REF_RGD_ID:11251770 11815025 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11815034 TFCP2 transcription factor CP2 gene DOID:630 genetic disease ISO RGD:1315527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11815056 NRSN1 neurensin 1 gene DOID:11054 urinary bladder cancer ISO RGD:1317257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 11815056 NRSN1 neurensin 1 gene DOID:630 genetic disease ISO RGD:1317257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11815069 ADI1 acireductone dioxygenase 1 gene DOID:0111881 Diamond-Blackfan anemia 8 ISO RGD:1602478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 PMID:28492532 11815069 ADI1 acireductone dioxygenase 1 gene DOID:630 genetic disease ISO RGD:1602478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11815069 ADI1 acireductone dioxygenase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1602478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17786183 11815081 HGD homogentisate 1,2-dioxygenase gene DOID:630 genetic disease ISO RGD:1318713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11815081 HGD homogentisate 1,2-dioxygenase gene DOID:9000709 Hereditary Ochronosis ISO RGD:1318713 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Ochronosis, hereditary PMID:10205262|PMID:10340975|PMID:10482952|PMID:10594001|PMID:19096913|PMID:19862842|PMID:20301627|PMID:23430897|PMID:25741868|PMID:28492532|PMID:9529363 11815081 HGD homogentisate 1,2-dioxygenase gene DOID:9006239 Alkaptonuric Ochronosis ISO RGD:1318713 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Alkaptonuric ochronosis PMID:10205262|PMID:10340975|PMID:10482952|PMID:10594001|PMID:19096913|PMID:19862842|PMID:20301627|PMID:23430897|PMID:25741868|PMID:28492532|PMID:9529363 11815081 HGD homogentisate 1,2-dioxygenase gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1318713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 11815081 HGD homogentisate 1,2-dioxygenase gene DOID:9270 alkaptonuria ISO RGD:1318713 D RGD:7240710 20180130 OMIM 11815081 HGD homogentisate 1,2-dioxygenase gene DOID:9270 alkaptonuria ISO RGD:1318713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alkaptonuria | ClinVar Annotator: match by term: Homogentisic acidura PMID:1001939|PMID:10205262|PMID:10340975|PMID:10482952|PMID:10594001|PMID:10819641|PMID:10970188|PMID:11001939|PMID:11017803|PMID:12051967|PMID:12114497|PMID:12501223|PMID:12872815|PMID:12872836|PMID:1360590|PMID:14978662|PMID:16085442|PMID:16199547|PMID:17576681|PMID:18945288|PMID:19096913|PMID:19306858|PMID:19862842|PMID:20301627|PMID:20462779|PMID:2114497|PMID:21437689|PMID:21720873|PMID:21822197|PMID:23353776|PMID:23430897|PMID:23519186|PMID:25233259|PMID:25525159|PMID:25681086|PMID:25741868|PMID:25804398|PMID:26960557|PMID:27026014|PMID:28492532|PMID:30737480|PMID:31927521|PMID:33621656|PMID:34008892|PMID:34686677|PMID:8782815|PMID:9154114|PMID:9529363|PMID:9536098|PMID:9630082|PMID:9674916 11815099 CLEC12B C-type lectin domain family 12 member B gene DOID:0080600 COVID-19 ISO RGD:1605796 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11815099 CLEC12B C-type lectin domain family 12 member B gene DOID:630 genetic disease ISO RGD:1605796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11815109 ESS2 ess-2 splicing factor homolog gene DOID:0060041 autism spectrum disorder ISO RGD:1317866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11815109 ESS2 ess-2 splicing factor homolog gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1317866 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 11815109 ESS2 ess-2 splicing factor homolog gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1317866 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 11815109 ESS2 ess-2 splicing factor homolog gene DOID:0111996 immunodeficiency 51 ISO RGD:1317866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11815109 ESS2 ess-2 splicing factor homolog gene DOID:1059 intellectual disability ISO RGD:1317866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11815109 ESS2 ess-2 splicing factor homolog gene DOID:11198 DiGeorge syndrome ISO RGD:1317866 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 11815109 ESS2 ess-2 splicing factor homolog gene DOID:11372 megacolon ISO RGD:1317866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11815109 ESS2 ess-2 splicing factor homolog gene DOID:12583 velocardiofacial syndrome ISO RGD:1317866 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 11815109 ESS2 ess-2 splicing factor homolog gene DOID:12849 autistic disorder ISO RGD:1317866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11815109 ESS2 ess-2 splicing factor homolog gene DOID:1826 epilepsy ISO RGD:1317866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11815109 ESS2 ess-2 splicing factor homolog gene DOID:5419 schizophrenia ISO RGD:1317866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11815109 ESS2 ess-2 splicing factor homolog gene DOID:612 primary immunodeficiency disease ISO RGD:1317866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11815109 ESS2 ess-2 splicing factor homolog gene DOID:630 genetic disease ISO RGD:1317866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11815109 ESS2 ess-2 splicing factor homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11815109 ESS2 ess-2 splicing factor homolog gene DOID:9007661 Dwarfism ISO RGD:1317866 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11815109 ESS2 ess-2 splicing factor homolog gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1317866 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11815135 TMED2 transmembrane p24 trafficking protein 2 gene DOID:630 genetic disease ISO RGD:735876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11815135 TMED2 transmembrane p24 trafficking protein 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:735876 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11815143 TP53I11 tumor protein p53 inducible protein 11 gene DOID:1059 intellectual disability ISO RGD:1318140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11815165 DZIP1 DAZ interacting zinc finger protein 1 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1317042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 11815165 DZIP1 DAZ interacting zinc finger protein 1 gene DOID:0112175 spermatogenic failure 47 ISO RGD:1317042 D RGD:7240710 20201202 OMIM 11815165 DZIP1 DAZ interacting zinc finger protein 1 gene DOID:0112175 spermatogenic failure 47 ISO RGD:1317042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 47 PMID:32051257 11815165 DZIP1 DAZ interacting zinc finger protein 1 gene DOID:630 genetic disease ISO RGD:1317042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11815165 DZIP1 DAZ interacting zinc finger protein 1 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1317042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11815165 DZIP1 DAZ interacting zinc finger protein 1 gene DOID:9007938 Myxomatous Mitral Valve Prolapse 3 ISO RGD:1317042 D RGD:7240710 20201202 OMIM 11815165 DZIP1 DAZ interacting zinc finger protein 1 gene DOID:9007938 Myxomatous Mitral Valve Prolapse 3 ISO RGD:1317042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitral valve prolapse, myxomatous 3 PMID:31118289 11815165 DZIP1 DAZ interacting zinc finger protein 1 gene DOID:988 mitral valve prolapse ISO RGD:1550795 D RGD:9068941 20220825 MouseDO OMIM:157700 | OMIM:607829 | OMIM:610840 11815192 DCDC2C doublecortin domain containing 2C gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:4144303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:25741868 11815206 PAG1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 gene DOID:5419 schizophrenia ISO RGD:1603638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 11815206 PAG1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 gene DOID:630 genetic disease ISO RGD:1603638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11815206 PAG1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1603638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23334668 11815218 TTC12 tetratricopeptide repeat domain 12 gene DOID:0111857 primary ciliary dyskinesia 45 ISO RGD:1347109 D RGD:7240710 20200318 OMIM 11815218 TTC12 tetratricopeptide repeat domain 12 gene DOID:0111857 primary ciliary dyskinesia 45 ISO RGD:1347109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 45 PMID:1978331|PMID:25741868 11815218 TTC12 tetratricopeptide repeat domain 12 gene DOID:1059 intellectual disability ISO RGD:1347109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11815218 TTC12 tetratricopeptide repeat domain 12 gene DOID:630 genetic disease ISO RGD:1347109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11815218 TTC12 tetratricopeptide repeat domain 12 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1347109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11815257 PACSIN2 protein kinase C and casein kinase substrate in neurons 2 gene DOID:1059 intellectual disability ISO RGD:69456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11815257 PACSIN2 protein kinase C and casein kinase substrate in neurons 2 gene DOID:2661 myoepithelioma ISO RGD:69456 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11815257 PACSIN2 protein kinase C and casein kinase substrate in neurons 2 gene DOID:630 genetic disease ISO RGD:69456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11815257 PACSIN2 protein kinase C and casein kinase substrate in neurons 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:69456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11815257 PACSIN2 protein kinase C and casein kinase substrate in neurons 2 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:69456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 11815286 RFNG RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:630 genetic disease ISO RGD:1345692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11815286 RFNG RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:9004657 Weight Gain ISO RGD:1345692 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11815308 MGAT4B alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:1602226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 11815308 MGAT4B alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1602226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11815308 MGAT4B alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B gene DOID:0112103 Sotos syndrome 1 ISO RGD:1602226 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11815308 MGAT4B alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B gene DOID:630 genetic disease ISO RGD:1602226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11815333 GPD1 glycerol-3-phosphate dehydrogenase 1 gene DOID:630 genetic disease ISO RGD:733156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11815333 GPD1 glycerol-3-phosphate dehydrogenase 1 gene DOID:9001603 Hypertriglyceridemia, Transient Infantile ISO RGD:733156 D RGD:7240710 20180130 OMIM 11815333 GPD1 glycerol-3-phosphate dehydrogenase 1 gene DOID:9001603 Hypertriglyceridemia, Transient Infantile ISO RGD:733156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia, transient infantile PMID:22226083|PMID:24549054|PMID:25741868|PMID:28492532 11815333 GPD1 glycerol-3-phosphate dehydrogenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11815345 XAB2 XPA binding protein 2 gene DOID:0080490 mucolipidosis type IV ISO RGD:1342496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11815345 XAB2 XPA binding protein 2 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1342496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 11815345 XAB2 XPA binding protein 2 gene DOID:630 genetic disease ISO RGD:1342496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11815370 SPEM1 spermatid maturation 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1602954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11815370 SPEM1 spermatid maturation 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1602954 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11815370 SPEM1 spermatid maturation 1 gene DOID:1059 intellectual disability ISO RGD:1602954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11815370 SPEM1 spermatid maturation 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1602954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11815370 SPEM1 spermatid maturation 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1602954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11815370 SPEM1 spermatid maturation 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1602954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11815370 SPEM1 spermatid maturation 1 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1602954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 11815370 SPEM1 spermatid maturation 1 gene DOID:630 genetic disease ISO RGD:1602954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11815377 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:0060843 hereditary neuropathy with liability to pressure palsies ISO RGD:736857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary liability to pressure palsies PMID:25741868|PMID:26467025|PMID:28492532 11815377 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:736857 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11815377 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:11162 respiratory failure ISO RGD:736857 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19822448 11815377 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:14452 hypokalemic periodic paralysis ISO RGD:736857 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: HypoPP | ClinVar Annotator: match by term: Hypokalemic periodic paralysis PMID:10590402|PMID:11260227|PMID:12411788|PMID:15201141|PMID:16163667|PMID:17576681|PMID:19825159|PMID:1982519|PMID:20213496|PMID:20431982|PMID:22547813|PMID:22992668|PMID:23663834|PMID:24033266|PMID:24195946|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28326467|PMID:28492532|PMID:30236257|PMID:9199552|PMID:9536098 11815377 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:1540 parathyroid carcinoma ISO RGD:736857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11815377 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:630 genetic disease ISO RGD:736857 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24195946|PMID:25132214|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32054689 11815377 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:767 muscular atrophy ISO RGD:736857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular atrophy PMID:25741868|PMID:31227654 11815377 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:8545 malignant hyperthermia ISO RGD:736857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:11260227|PMID:12411788|PMID:15201141|PMID:16163667|PMID:17576681|PMID:19825159|PMID:1982519|PMID:20861472|PMID:22547813|PMID:22992668|PMID:23662824|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24784157|PMID:25132214|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27147545|PMID:28011884|PMID:28166811|PMID:28326467|PMID:28492532|PMID:29193480|PMID:29212769|PMID:9199552|PMID:9536098 11815377 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:8545 malignant hyperthermia ISO RGD:736857 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:11260227|PMID:12411788|PMID:15201141|PMID:16163667|PMID:17576681|PMID:19825159|PMID:20861472|PMID:22547813|PMID:22992668|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24784157|PMID:25132214|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27147545|PMID:28011884|PMID:28166811|PMID:28326467|PMID:28492532|PMID:29193480|PMID:29212769|PMID:9199552|PMID:9536098 11815377 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:8545 malignant hyperthermia ISO RGD:736857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:11260227|PMID:12411788|PMID:15201141|PMID:16163667|PMID:17576681|PMID:19825159|PMID:1982519|PMID:20213496|PMID:20861472|PMID:22547813|PMID:22992668|PMID:23663834|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24784157|PMID:25132214|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27147545|PMID:28011884|PMID:28326467|PMID:28492532|PMID:29193480|PMID:29212769|PMID:30236257|PMID:9199552|PMID:9536098 11815377 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:8545 malignant hyperthermia susceptibility ISO RGD:736857 D RGD:7240710 20230517 OMIM 11815377 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:9000884 Rhabdomyolysis ISO RGD:736857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:28779239 11815377 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736857 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:10074484|PMID:10523403|PMID:10590402|PMID:10639629|PMID:11034874|PMID:11260227|PMID:11328898|PMID:11353725|PMID:11555352|PMID:11808349|PMID:11940049|PMID:12411788|PMID:15098604|PMID:15201141|PMID:15711422|PMID:15716625|PMID:15726306|PMID:16163667|PMID:16199547|PMID:17418573|PMID:17576681|PMID:17587224|PMID:18162704|PMID:18229654|PMID:18325191|PMID:18835861|PMID:19118277|PMID:19225109|PMID:19779499|PMID:19822448|PMID:19825159|PMID:1982519|PMID:20213496|PMID:20301512|PMID:20431982|PMID:20861472|PMID:21841462|PMID:21855088|PMID:22547813|PMID:22901280|PMID:22992668|PMID:23187123|PMID:23663834|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24240197|PMID:24784157|PMID:25132214|PMID:25213595|PMID:25430699|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:26247046|PMID:26252573|PMID:26332594|PMID:26433613|PMID:26467025|PMID:26633545|PMID:27147545|PMID:28008999|PMID:28011884|PMID:28012042|PMID:28259615|PMID:28326467|PMID:28492532|PMID:28686619|PMID:28857175|PMID:28972032|PMID:29048924|PMID:29193480|PMID:29212769|PMID:29572832|PMID:29792937|PMID:30236257|PMID:30325262|PMID:3037387|PMID:31068157|PMID:31227654|PMID:31380823|PMID:31447099|PMID:31567646|PMID:32054689|PMID:33005891|PMID:33060286|PMID:33667896|PMID:34008892|PMID:34440373|PMID:34463712|PMID:7650604|PMID:7847370|PMID:7897626|PMID:7987325|PMID:8004673|PMID:8605978|PMID:9066893|PMID:9132138|PMID:9199552|PMID:9512357|PMID:9536098|PMID:9852570 11815377 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 susceptibility ISO RGD:736857 D RGD:7240710 20230517 OMIM 11815377 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:9005248 CONGENITAL MYOPATHY 18 ISO RGD:736857 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, due to dihydropyridine receptor defect PMID:25741868|PMID:26247046|PMID:28012042|PMID:28492532|PMID:31227654|PMID:33060286 11815377 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:9005248 CONGENITAL MYOPATHY 18 susceptibility ISO RGD:736857 D RGD:7240710 20230517 OMIM 11815377 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:9006927 Thyrotoxic Periodic Paralysis ISO RGD:736857 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thyrotoxic periodic paralysis, susceptibility to, 1 PMID:15001631|PMID:25741868|PMID:28492532 11815377 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:9006927 Thyrotoxic Periodic Paralysis susceptibility ISO RGD:736857 D RGD:7240710 20230517 OMIM 11815377 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11815425 NDUFA11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1353803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 11815425 NDUFA11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:0112094 nuclear type mitochondrial complex I deficiency 14 ISO RGD:1353803 D RGD:7240710 20190315 OMIM 11815425 NDUFA11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:0112094 nuclear type mitochondrial complex I deficiency 14 ISO RGD:1353803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 PMID:17576681|PMID:18306244|PMID:25741868|PMID:28492532|PMID:32712949|PMID:9536098 11815425 NDUFA11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:630 genetic disease ISO RGD:1353803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11815440 MRGPRX3 MAS related GPR family member X3 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1603279 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 11815440 MRGPRX3 MAS related GPR family member X3 gene DOID:1059 intellectual disability ISO RGD:1603279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11815440 MRGPRX3 MAS related GPR family member X3 gene DOID:630 genetic disease ISO RGD:1603279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11815446 FZD4 frizzled class receptor 4 gene DOID:0050535 exudative vitreoretinopathy ISO RGD:736680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial exudative vitreoretinopathy PMID:14507768|PMID:15035989|PMID:17955262|PMID:20340138|PMID:20938005|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 11815446 FZD4 frizzled class receptor 4 gene DOID:0060844 Norrie disease ISO RGD:736680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrophia bulborum hereditaria PMID:14507768|PMID:15035989|PMID:17955262|PMID:20340138|PMID:20938005|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 11815446 FZD4 frizzled class receptor 4 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:736680 D RGD:7240710 20180130 OMIM 11815446 FZD4 frizzled class receptor 4 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:736680 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 | ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant PMID:12172548|PMID:14507768|PMID:15035989|PMID:15370539|PMID:15488808|PMID:15733276|PMID:15981244|PMID:17955262|PMID:19324841|PMID:20340138|PMID:20938005|PMID:21097938|PMID:21177847|PMID:21179236|PMID:21681106|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26227961|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 11815446 FZD4 frizzled class receptor 4 gene DOID:1059 intellectual disability ISO RGD:736680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11815446 FZD4 frizzled class receptor 4 gene DOID:11193 syndactyly ISO RGD:736680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17103440 11815446 FZD4 frizzled class receptor 4 gene DOID:13025 retinopathy of prematurity ISO RGD:736680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinopathy of prematurity PMID:15733276|PMID:25741868|PMID:28492532 11815446 FZD4 frizzled class receptor 4 gene DOID:5679 retinal disease ISO RGD:736680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17103440 11815446 FZD4 frizzled class receptor 4 gene DOID:630 genetic disease ISO RGD:736680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11815446 FZD4 frizzled class receptor 4 gene DOID:674 cleft palate ISO RGD:736680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17103440 11815446 FZD4 frizzled class receptor 4 gene DOID:7765 Coats disease ISO RGD:736680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative retinopathy PMID:14507768|PMID:15035989|PMID:17955262|PMID:20340138|PMID:20938005|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 11815446 FZD4 frizzled class receptor 4 gene DOID:8501 fundus dystrophy ISO RGD:736680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:14507768|PMID:15035989|PMID:17955262|PMID:20340138|PMID:20938005|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 11815446 FZD4 frizzled class receptor 4 gene DOID:8634 prostate carcinoma in situ ISO RGD:736680 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18068632|REF_RGD_ID:2298702 11815446 FZD4 frizzled class receptor 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736680 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18068632|REF_RGD_ID:2298702 11815446 FZD4 frizzled class receptor 4 gene DOID:9005367 Arachnodactyly ISO RGD:736680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17103440 11815446 FZD4 frizzled class receptor 4 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:736680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17103440 11815452 NAGLU N-acetyl-alpha-glucosaminidase gene DOID:0050952 spastic ataxia ISO RGD:1351904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 11815452 NAGLU N-acetyl-alpha-glucosaminidase gene DOID:0110178 Charcot-Marie-Tooth disease axonal type 2V ISO RGD:1351904 D RGD:7240710 20180130 OMIM 11815452 NAGLU N-acetyl-alpha-glucosaminidase gene DOID:0110178 Charcot-Marie-Tooth disease axonal type 2V ISO RGD:1351904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2V | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2V PMID:10094189|PMID:20852935|PMID:22976768|PMID:25741868|PMID:25818867|PMID:28492532|PMID:29979746|PMID:33747789|PMID:8650226|PMID:9443875|PMID:9950362 11815452 NAGLU N-acetyl-alpha-glucosaminidase gene DOID:0111394 mucopolysaccharidosis type IIIB ISO RGD:1351904 D RGD:7240710 20191106 OMIM 11815452 NAGLU N-acetyl-alpha-glucosaminidase gene DOID:0111394 mucopolysaccharidosis type IIIB ISO RGD:1351904 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIB (Sanfilippo B) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B PMID:10094189|PMID:11068184|PMID:11153910|PMID:11286389|PMID:11668611|PMID:11793481|PMID:11836372|PMID:12202988|PMID:14984474|PMID:15300983|PMID:15933803|PMID:16151907|PMID:16199547|PMID:16447797|PMID:17576681|PMID:18218046|PMID:19046346|PMID:20040070|PMID:20138557|PMID:20852935|PMID:21204211|PMID:21685203|PMID:217121855|PMID:21712855|PMID:21910976|PMID:21937992|PMID:22002444|PMID:22908982|PMID:22976768|PMID:23084433|PMID:23100014|PMID:23380547|PMID:23430803|PMID:23661660|PMID:23667853|PMID:23840811|PMID:24314109|PMID:24347096|PMID:25256447|PMID:25466957|PMID:25520920|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25818867|PMID:26075876|PMID:26907177|PMID:27243974|PMID:27590925|PMID:28018442|PMID:28101780|PMID:28306536|PMID:28492532|PMID:28751108|PMID:28836185|PMID:28844463|PMID:29269699|PMID:29606097|PMID:29661560|PMID:29881562|PMID:29979746|PMID:30070758|PMID:30802506|PMID:30809705|PMID:30903511|PMID:31236806|PMID:31319225|PMID:31342580|PMID:31413257|PMID:31536183|PMID:31969655|PMID:32014045|PMID:32056211|PMID:32578945|PMID:32883051|PMID:33246910|PMID:33747789|PMID:33763395|PMID:34396902|PMID:8650226|PMID:9443875|PMID:9443878|PMID:9536098|PMID:9832037|PMID:9950362 11815452 NAGLU N-acetyl-alpha-glucosaminidase gene DOID:1059 intellectual disability ISO RGD:1351904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20852935|PMID:24314109|PMID:25741868|PMID:26075876|PMID:26907177|PMID:28492532|PMID:29606097|PMID:29979746|PMID:9443878 11815452 NAGLU N-acetyl-alpha-glucosaminidase gene DOID:10754 otitis media ISO RGD:1623263 D RGD:9068941 20220825 MouseDO OMIM:166760 11815452 NAGLU N-acetyl-alpha-glucosaminidase gene DOID:12798 mucopolysaccharidosis ISO RGD:1351904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis PMID:10094189|PMID:11068184|PMID:16151907|PMID:18218046|PMID:20040070|PMID:20852935|PMID:21204211|PMID:217121855|PMID:21712855|PMID:22976768|PMID:23084433|PMID:23667853|PMID:25256447|PMID:25520920|PMID:25741868|PMID:26907177|PMID:27590925|PMID:28306536|PMID:28492532|PMID:28751108|PMID:28836185|PMID:29661560|PMID:29979746|PMID:31413257|PMID:31536183|PMID:33747789|PMID:8650226|PMID:9443875|PMID:9832037|PMID:9950362 11815452 NAGLU N-acetyl-alpha-glucosaminidase gene DOID:12801 mucopolysaccharidosis III ISO RGD:1351904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: N-acetyl-alpha-d-glucosaminidase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome PMID:10094189|PMID:14984474|PMID:15300983|PMID:15933803|PMID:18218046|PMID:20852935|PMID:21204211|PMID:21937992|PMID:22976768|PMID:23380547|PMID:23430803|PMID:25741868|PMID:28492532|PMID:28751108|PMID:29979746|PMID:33747789|PMID:8650226|PMID:9443875|PMID:9950362 11815452 NAGLU N-acetyl-alpha-glucosaminidase gene DOID:420 hypertrichosis ISO RGD:1351904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrichosis PMID:10094189|PMID:11153910|PMID:14984474|PMID:16151907|PMID:25741868|PMID:26907177|PMID:28492532|PMID:30809705|PMID:8650226|PMID:9443875|PMID:9443878|PMID:9832037|PMID:9950362 11815452 NAGLU N-acetyl-alpha-glucosaminidase gene DOID:630 genetic disease ISO RGD:1351904 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10094189|PMID:12202988|PMID:16151907|PMID:18218046|PMID:21204211|PMID:21937992|PMID:24314109|PMID:24347096|PMID:25525159|PMID:25741868|PMID:28492532|PMID:28844463|PMID:29269699|PMID:29979746|PMID:31342580|PMID:31969655|PMID:32056211|PMID:32883051|PMID:33747789|PMID:9443878|PMID:9832037 11815452 NAGLU N-acetyl-alpha-glucosaminidase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11815452 NAGLU N-acetyl-alpha-glucosaminidase gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1564228 D RGD:9068941 20220616 RGD protein:increased activity:brain: PMID:25720338|REF_RGD_ID:152995398 11815462 RNF150 ring finger protein 150 gene DOID:630 genetic disease ISO RGD:1322589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11815481 SOWAHD sosondowah ankyrin repeat domain family member D gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11815481 SOWAHD sosondowah ankyrin repeat domain family member D gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1606099 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 11815481 SOWAHD sosondowah ankyrin repeat domain family member D gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1606099 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 11815481 SOWAHD sosondowah ankyrin repeat domain family member D gene DOID:0080600 COVID-19 ISO RGD:1606099 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11815481 SOWAHD sosondowah ankyrin repeat domain family member D gene DOID:12849 autistic disorder ISO RGD:1606099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11815481 SOWAHD sosondowah ankyrin repeat domain family member D gene DOID:630 genetic disease ISO RGD:1606099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11815486 KICS2 KICSTOR subunit 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1603179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11815500 TMEM70 transmembrane protein 70 gene DOID:0050700 cardiomyopathy ISO RGD:1603032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18953340 11815500 TMEM70 transmembrane protein 70 gene DOID:0050868 hepatocellular adenoma ISO RGD:1603032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27914986 11815500 TMEM70 transmembrane protein 70 gene DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ISO RGD:1603032 D RGD:7240710 20180130 OMIM 11815500 TMEM70 transmembrane protein 70 gene DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ISO RGD:1603032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | ClinVar Annotator: match by term: Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 PMID:16199547|PMID:17576681|PMID:1895334|PMID:18953340|PMID:20335238|PMID:20728387|PMID:20920610|PMID:20937241|PMID:21147908|PMID:21815885|PMID:21945727|PMID:22433607|PMID:22986587|PMID:24033266|PMID:24485043|PMID:24740313|PMID:25326274|PMID:25741868|PMID:25825456|PMID:26467025|PMID:26550569|PMID:28492532|PMID:30950220|PMID:9536098 11815500 TMEM70 transmembrane protein 70 gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:1603032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K PMID:15805163|PMID:20685671|PMID:21681106 11815500 TMEM70 transmembrane protein 70 gene DOID:0110185 Charcot-Marie-Tooth disease type 4A ISO RGD:1603032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A PMID:28492532 11815500 TMEM70 transmembrane protein 70 gene DOID:0111143 mitochondrial complex V (ATP synthase) deficiency ISO RGD:1603032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type PMID:18953340|PMID:20335238|PMID:20920610|PMID:21147908|PMID:24033266|PMID:24485043|PMID:25326274|PMID:25741868|PMID:28492532 11815500 TMEM70 transmembrane protein 70 gene DOID:630 genetic disease ISO RGD:1603032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18953340|PMID:21147908|PMID:24740313|PMID:25741868|PMID:28492532 11815500 TMEM70 transmembrane protein 70 gene DOID:684 hepatocellular carcinoma ISO RGD:1603032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27914986 11815500 TMEM70 transmembrane protein 70 gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1603032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18953340 11815507 PALM paralemmin gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1344376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 11815507 PALM paralemmin gene DOID:5339 cyclic hematopoiesis ISO RGD:1344376 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11815507 PALM paralemmin gene DOID:630 genetic disease ISO RGD:1344376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11815516 RGS12 regulator of G protein signaling 12 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:731521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 11815516 RGS12 regulator of G protein signaling 12 gene DOID:1856 cherubism ISO RGD:731521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11815516 RGS12 regulator of G protein signaling 12 gene DOID:5419 schizophrenia ISO RGD:731521 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 11815516 RGS12 regulator of G protein signaling 12 gene DOID:630 genetic disease ISO RGD:731521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11815541 CWF19L1 CWF19 like cell cycle control factor 1 gene DOID:0080064 autosomal recessive spinocerebellar ataxia 17 ISO RGD:1312323 D RGD:7240710 20180130 OMIM 11815541 CWF19L1 CWF19 like cell cycle control factor 1 gene DOID:0080064 autosomal recessive spinocerebellar ataxia 17 ISO RGD:1312323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 17 PMID:15981765|PMID:16199547|PMID:18414213|PMID:25361784|PMID:25741868|PMID:26197978|PMID:27016154|PMID:28492532 11815541 CWF19L1 CWF19 like cell cycle control factor 1 gene DOID:1059 intellectual disability ISO RGD:1312323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 11815541 CWF19L1 CWF19 like cell cycle control factor 1 gene DOID:630 genetic disease ISO RGD:1312323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11815541 CWF19L1 CWF19 like cell cycle control factor 1 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1312323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11815629 KCNK5 potassium two pore domain channel subfamily K member 5 gene DOID:1824 status epilepticus ISO RGD:1345390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19220408 11815629 KCNK5 potassium two pore domain channel subfamily K member 5 gene DOID:630 genetic disease ISO RGD:1345390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11815638 PM20D1 peptidase M20 domain containing 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1602433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11815638 PM20D1 peptidase M20 domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1602433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11815638 PM20D1 peptidase M20 domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1602433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11815638 PM20D1 peptidase M20 domain containing 1 gene DOID:630 genetic disease ISO RGD:1602433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11815638 PM20D1 peptidase M20 domain containing 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1602433 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11815638 PM20D1 peptidase M20 domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11815655 TRAPPC8 trafficking protein particle complex subunit 8 gene DOID:1059 intellectual disability ISO RGD:1319254 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11815655 TRAPPC8 trafficking protein particle complex subunit 8 gene DOID:630 genetic disease ISO RGD:1319254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11815688 HDAC6 histone deacetylase 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11815688 HDAC6 histone deacetylase 6 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1351463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 11815688 HDAC6 histone deacetylase 6 gene DOID:0080322 polycystic kidney disease treatment ISO RGD:619981 D RGD:9068941 20200609 RGD PMID:24434010|REF_RGD_ID:9681551 11815688 HDAC6 histone deacetylase 6 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1351463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11815688 HDAC6 histone deacetylase 6 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1351463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11815688 HDAC6 histone deacetylase 6 gene DOID:0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia ISO RGD:1351463 D RGD:7240710 20180130 OMIM 11815688 HDAC6 histone deacetylase 6 gene DOID:0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia ISO RGD:1351463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked dominant chondrodysplasia, Chassaing-Lacombe type PMID:16001442|PMID:20181727|PMID:25741868|PMID:28492532 11815688 HDAC6 histone deacetylase 6 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1351463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11815688 HDAC6 histone deacetylase 6 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1351463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 11815688 HDAC6 histone deacetylase 6 gene DOID:10763 hypertension ISO RGD:619981 D RGD:9068941 20200609 RGD protein:increased expression, activity:heart: PMID:23868068|REF_RGD_ID:9681716 11815688 HDAC6 histone deacetylase 6 gene DOID:12849 autistic disorder ISO RGD:1351463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11815688 HDAC6 histone deacetylase 6 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351463 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35764897 11815688 HDAC6 histone deacetylase 6 gene DOID:1909 melanoma ISO RGD:1351463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11815688 HDAC6 histone deacetylase 6 gene DOID:3347 osteosarcoma ISO RGD:1351463 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34524571 11815688 HDAC6 histone deacetylase 6 gene DOID:4947 cholangiocarcinoma ISO RGD:1351463 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:23370327|REF_RGD_ID:9681560 11815688 HDAC6 histone deacetylase 6 gene DOID:630 genetic disease ISO RGD:1351463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11815688 HDAC6 histone deacetylase 6 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1351463 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:19147762|REF_RGD_ID:2306200 11815688 HDAC6 histone deacetylase 6 gene DOID:9000918 Disease Progression ISO RGD:1351463 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34524571 11815688 HDAC6 histone deacetylase 6 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1351463 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:24434010|REF_RGD_ID:9681551 11815688 HDAC6 histone deacetylase 6 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:619981 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cholangiocytee,liver: PMID:24434010|REF_RGD_ID:9681551 11815688 HDAC6 histone deacetylase 6 gene DOID:9001771 Polycystic Liver Disease 1 treatment ISO RGD:619981 D RGD:9068941 20200609 RGD PMID:24434010|REF_RGD_ID:9681551 11815688 HDAC6 histone deacetylase 6 gene DOID:9002170 Experimental Neoplasms ISO RGD:1351463 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34524571 11815688 HDAC6 histone deacetylase 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 11815688 HDAC6 histone deacetylase 6 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1552302 D RGD:9068941 20200609 RGD PMID:23541634|REF_RGD_ID:9681550 11815688 HDAC6 histone deacetylase 6 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1351463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19010849 11815688 HDAC6 histone deacetylase 6 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1351463 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:19147762|REF_RGD_ID:2306200 11815688 HDAC6 histone deacetylase 6 gene DOID:9004484 Sepsis ISO RGD:619981 D RGD:9068941 20200609 RGD PMID:20538901|REF_RGD_ID:7364733 11815733 GAPDHS glyceraldehyde-3-phosphate dehydrogenase, spermatogenic gene DOID:0110222 Brugada syndrome 5 ISO RGD:1354511 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11815733 GAPDHS glyceraldehyde-3-phosphate dehydrogenase, spermatogenic gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1354511 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11815733 GAPDHS glyceraldehyde-3-phosphate dehydrogenase, spermatogenic gene DOID:10283 prostate cancer ISO RGD:1354511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11815733 GAPDHS glyceraldehyde-3-phosphate dehydrogenase, spermatogenic gene DOID:10652 Alzheimer's disease ISO RGD:1354511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17192785 11815733 GAPDHS glyceraldehyde-3-phosphate dehydrogenase, spermatogenic gene DOID:10652 Alzheimer's disease onset ISO RGD:1354511 D RGD:9068941 20200609 RGD DNA:snps:promoter, intron: (rs4806173, rs12984928) (human) PMID:15507493|REF_RGD_ID:1358618 11815733 GAPDHS glyceraldehyde-3-phosphate dehydrogenase, spermatogenic gene DOID:543 dystonia ISO RGD:1354511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11815733 GAPDHS glyceraldehyde-3-phosphate dehydrogenase, spermatogenic gene DOID:630 genetic disease ISO RGD:1354511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11815751 MX2 MX dynamin like GTPase 2 gene DOID:12849 autistic disorder ISO RGD:1351068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11815751 MX2 MX dynamin like GTPase 2 gene DOID:1909 melanoma ISO RGD:1351068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983787 11815751 MX2 MX dynamin like GTPase 2 gene DOID:630 genetic disease ISO RGD:1351068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11815751 MX2 MX dynamin like GTPase 2 gene DOID:9001488 Human Influenza ISO RGD:1351068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11815751 MX2 MX dynamin like GTPase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11815781 CENPF centromere protein F gene DOID:0080600 COVID-19 ISO RGD:1352971 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11815781 CENPF centromere protein F gene DOID:0110595 Stromme syndrome ISO RGD:1352971 D RGD:7240710 20190315 OMIM 11815781 CENPF centromere protein F gene DOID:0110595 Stromme syndrome ISO RGD:1352971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stromme syndrome PMID:25564561|PMID:25741868|PMID:25741878|PMID:26820108|PMID:28407396|PMID:28492532|PMID:8261651 11815781 CENPF centromere protein F gene DOID:10907 microcephaly ISO RGD:1352971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11815781 CENPF centromere protein F gene DOID:12930 dilated cardiomyopathy ISO RGD:1623040 D RGD:9068941 20220825 MouseDO 11815781 CENPF centromere protein F gene DOID:1540 parathyroid carcinoma ISO RGD:1352971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11815781 CENPF centromere protein F gene DOID:630 genetic disease ISO RGD:1352971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11815781 CENPF centromere protein F gene DOID:684 hepatocellular carcinoma ISO RGD:1352971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11815781 CENPF centromere protein F gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29581250 11815781 CENPF centromere protein F gene DOID:9008939 Breast Neoplasms ISO RGD:1352971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 11815781 CENPF centromere protein F gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11815781 CENPF centromere protein F gene DOID:9266 cystinuria ISO RGD:1352971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystinuria PMID:25741868 11815808 SPIRE1 spire type actin nucleation factor 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1354236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11815808 SPIRE1 spire type actin nucleation factor 1 gene DOID:1059 intellectual disability ISO RGD:1354236 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11815808 SPIRE1 spire type actin nucleation factor 1 gene DOID:543 dystonia ISO RGD:1354236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 11815808 SPIRE1 spire type actin nucleation factor 1 gene DOID:630 genetic disease ISO RGD:1354236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11815831 LASP1 LIM and SH3 protein 1 gene DOID:12849 autistic disorder ISO RGD:68601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17376794 11815831 LASP1 LIM and SH3 protein 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:68601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11815831 LASP1 LIM and SH3 protein 1 gene DOID:630 genetic disease ISO RGD:68601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11815831 LASP1 LIM and SH3 protein 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:68601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28232485 11815845 NDRG3 NDRG family member 3 gene DOID:2234 focal epilepsy ISO RGD:1315300 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11815845 NDRG3 NDRG family member 3 gene DOID:630 genetic disease ISO RGD:1315300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11815869 TIMM10 translocase of inner mitochondrial membrane 10 gene DOID:1059 intellectual disability ISO RGD:734114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11815869 TIMM10 translocase of inner mitochondrial membrane 10 gene DOID:3247 rhabdomyosarcoma ISO RGD:734114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16669873 11815869 TIMM10 translocase of inner mitochondrial membrane 10 gene DOID:3910 lung adenocarcinoma ISO RGD:734114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11815869 TIMM10 translocase of inner mitochondrial membrane 10 gene DOID:630 genetic disease ISO RGD:734114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11815869 TIMM10 translocase of inner mitochondrial membrane 10 gene DOID:9006205 Animal Disease Models ISO RGD:734114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11815882 TMEM151A transmembrane protein 151A gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1606118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 11815882 TMEM151A transmembrane protein 151A gene DOID:1059 intellectual disability ISO RGD:1606118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11815882 TMEM151A transmembrane protein 151A gene DOID:11612 polycystic ovary syndrome ISO RGD:1606118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11815882 TMEM151A transmembrane protein 151A gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11815882 TMEM151A transmembrane protein 151A gene DOID:2746 glycogen storage disease V ISO RGD:1606118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11815882 TMEM151A transmembrane protein 151A gene DOID:630 genetic disease ISO RGD:1606118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11815882 TMEM151A transmembrane protein 151A gene DOID:9002567 Episodic Kinesigenic Dyskinesia 3 ISO RGD:1606118 D RGD:7240710 20230505 OMIM 11815882 TMEM151A transmembrane protein 151A gene DOID:9002567 Episodic Kinesigenic Dyskinesia 3 ISO RGD:1606118 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia 3 PMID:34518509|PMID:34820915|PMID:34970790|PMID:35587630|PMID:35727387 11815882 TMEM151A transmembrane protein 151A gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1606118 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11815882 TMEM151A transmembrane protein 151A gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1606118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11815889 KIF4A kinesin family member 4A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11815889 KIF4A kinesin family member 4A gene DOID:0070338 cerebellar hypoplasia ISO RGD:1342700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 11815889 KIF4A kinesin family member 4A gene DOID:0080600 COVID-19 ISO RGD:1342700 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11815889 KIF4A kinesin family member 4A gene DOID:0112040 non-syndromic X-linked intellectual disability 100 ISO RGD:1342700 D RGD:7240710 20180130 OMIM 11815889 KIF4A kinesin family member 4A gene DOID:0112040 non-syndromic X-linked intellectual disability 100 ISO RGD:1342700 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked 100 PMID:25741868|PMID:28492532 11815889 KIF4A kinesin family member 4A gene DOID:1059 intellectual disability ISO RGD:1342700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31690835 11815889 KIF4A kinesin family member 4A gene DOID:12849 autistic disorder ISO RGD:1342700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11815889 KIF4A kinesin family member 4A gene DOID:1826 epilepsy ISO RGD:1342700 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11815889 KIF4A kinesin family member 4A gene DOID:630 genetic disease ISO RGD:1342700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11815889 KIF4A kinesin family member 4A gene DOID:684 hepatocellular carcinoma ISO RGD:1342700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11815889 KIF4A kinesin family member 4A gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1342700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:31474318 11815889 KIF4A kinesin family member 4A gene DOID:9970 obesity ISO RGD:1342700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 11815929 LRRC8B leucine rich repeat containing 8 VRAC subunit B gene DOID:630 genetic disease ISO RGD:1606820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11815955 CA1 carbonic anhydrase 1 gene DOID:0050758 metabolic acidosis ISO RGD:1320302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metabolic acidosis PMID:25741868 11815955 CA1 carbonic anhydrase 1 gene DOID:10316 pneumoconiosis ISO RGD:1320302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 11815955 CA1 carbonic anhydrase 1 gene DOID:299 adenocarcinoma ISO RGD:1320302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 11815955 CA1 carbonic anhydrase 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1320302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 11815955 CA1 carbonic anhydrase 1 gene DOID:630 genetic disease ISO RGD:1320302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11815955 CA1 carbonic anhydrase 1 gene DOID:655 inherited metabolic disorder ISO RGD:1320302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbonic anhydrase I deficiency | ClinVar Annotator: match by term: Carbonic anhydrase I, Guam PMID:406674|PMID:6781336|PMID:827930 11815955 CA1 carbonic anhydrase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1320302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696|PMID:19424620 11815980 MCTS1 MCTS1 re-initiation and release factor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11815980 MCTS1 MCTS1 re-initiation and release factor gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1351081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 11815980 MCTS1 MCTS1 re-initiation and release factor gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1351081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 11815980 MCTS1 MCTS1 re-initiation and release factor gene DOID:12849 autistic disorder ISO RGD:1351081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11815993 PSMB9 proteasome 20S subunit beta 9 gene DOID:0050553 JMP syndrome ISO RGD:737219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11815993 PSMB9 proteasome 20S subunit beta 9 gene DOID:0060058 lymphoma ISO RGD:737219 D RGD:9068941 20200609 RGD PMID:17609424|REF_RGD_ID:6483350 11815993 PSMB9 proteasome 20S subunit beta 9 gene DOID:0080199 colorectal carcinoma ISO RGD:737219 D RGD:9068941 20200609 RGD protein: decreased expression PMID:14750179|REF_RGD_ID:6483362 11815993 PSMB9 proteasome 20S subunit beta 9 gene DOID:10316 pneumoconiosis ISO RGD:737219 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 11815993 PSMB9 proteasome 20S subunit beta 9 gene DOID:11394 adult respiratory distress syndrome ISO RGD:737219 D RGD:9068941 20200609 RGD PMID:22363101|REF_RGD_ID:6483444 11815993 PSMB9 proteasome 20S subunit beta 9 gene DOID:12306 vitiligo ISO RGD:737219 D RGD:9068941 20200609 RGD PMID:14551602|REF_RGD_ID:1578358 11815993 PSMB9 proteasome 20S subunit beta 9 gene DOID:12858 Huntington's disease ISO RGD:11180 D RGD:9068941 20200609 RGD PMID:14684867|REF_RGD_ID:6483364 11815993 PSMB9 proteasome 20S subunit beta 9 gene DOID:12858 Huntington's disease ISO RGD:737219 D RGD:9068941 20200609 RGD PMID:14684867|REF_RGD_ID:6483364 11815993 PSMB9 proteasome 20S subunit beta 9 gene DOID:13976 peptic esophagitis ISO RGD:3427 D RGD:9068941 20200609 RGD protein:decreased expression:esophageal epithelium (rat) PMID:23942904|REF_RGD_ID:9854630 11815993 PSMB9 proteasome 20S subunit beta 9 gene DOID:1459 hypothyroidism ISO RGD:11180 D RGD:9068941 20200609 RGD PMID:19924240|REF_RGD_ID:6483332 11815993 PSMB9 proteasome 20S subunit beta 9 gene DOID:2377 multiple sclerosis ISO RGD:737219 D RGD:9068941 20200609 RGD PMID:20174631|REF_RGD_ID:6483446 11815993 PSMB9 proteasome 20S subunit beta 9 gene DOID:2722 acrodermatitis ISO RGD:737219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27258892 11815993 PSMB9 proteasome 20S subunit beta 9 gene DOID:3459 breast carcinoma ISO RGD:3427 D RGD:9068941 20200609 RGD protein:altered expression:tumor (rat) PMID:21889127|REF_RGD_ID:9854639 11815993 PSMB9 proteasome 20S subunit beta 9 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:737219 D RGD:9068941 20200609 RGD PMID:19492245|REF_RGD_ID:6482249 11815993 PSMB9 proteasome 20S subunit beta 9 gene DOID:4450 renal cell carcinoma ISO RGD:737219 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-151G>T (human) PMID:11788900|REF_RGD_ID:9999148 11815993 PSMB9 proteasome 20S subunit beta 9 gene DOID:630 genetic disease ISO RGD:737219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11815993 PSMB9 proteasome 20S subunit beta 9 gene DOID:7147 ankylosing spondylitis ISO RGD:737219 D RGD:9068941 20200609 RGD DNA: snp: rs17587 PMID:22034108|REF_RGD_ID:6483349 11815993 PSMB9 proteasome 20S subunit beta 9 gene DOID:7188 autoimmune thyroiditis ISO RGD:737219 D RGD:9068941 20200609 RGD DNA:missense mutation: cds: Arg60His PMID:12189117|REF_RGD_ID:6483439 11815993 PSMB9 proteasome 20S subunit beta 9 gene DOID:8161 thyroid gland Hurthle cell carcinoma ISO RGD:737219 D RGD:9068941 20200609 RGD PMID:19924240|REF_RGD_ID:6483332 11815993 PSMB9 proteasome 20S subunit beta 9 gene DOID:8893 psoriasis ISO RGD:737219 D RGD:9068941 20200609 RGD PMID:17581627|REF_RGD_ID:6482263 11815993 PSMB9 proteasome 20S subunit beta 9 gene DOID:9000380 Spondylarthritis ISO RGD:737219 D RGD:9068941 20200609 RGD PMID:15603870|REF_RGD_ID:6483462 11815993 PSMB9 proteasome 20S subunit beta 9 gene DOID:9000380 Spondylarthritis no_association ISO RGD:737219 D RGD:9068941 20200609 RGD PMID:9496154|REF_RGD_ID:6483495 11815993 PSMB9 proteasome 20S subunit beta 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11815993 PSMB9 proteasome 20S subunit beta 9 gene DOID:9004268 Uterine Neoplasms ISO RGD:11180 D RGD:9068941 20200609 RGD PMID:11782352|REF_RGD_ID:6483440 11815993 PSMB9 proteasome 20S subunit beta 9 gene DOID:9004283 Transplant Rejection severity ISO RGD:3427 D RGD:9068941 20200609 RGD protein:increased expression:liver, kidney (rat) PMID:22834313|REF_RGD_ID:9854627 11815993 PSMB9 proteasome 20S subunit beta 9 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3427 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:20968039|REF_RGD_ID:9850284 11815993 PSMB9 proteasome 20S subunit beta 9 gene DOID:9007355 Hashimoto Disease ISO RGD:737219 D RGD:9068941 20200609 RGD PMID:19924240|REF_RGD_ID:6483332 11815993 PSMB9 proteasome 20S subunit beta 9 gene DOID:9009202 Proteasome-Associated Autoinflammatory Syndrome 3 ISO RGD:737219 D RGD:7240710 20190315 OMIM 11815993 PSMB9 proteasome 20S subunit beta 9 gene DOID:9009202 Proteasome-Associated Autoinflammatory Syndrome 3 ISO RGD:737219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 3 PMID:25741868|PMID:26524591 11815993 PSMB9 proteasome 20S subunit beta 9 gene DOID:9744 type 1 diabetes mellitus ISO RGD:11180 D RGD:9068941 20200609 RGD PMID:11717249|REF_RGD_ID:6483441 11816003 LMTK2 lemur tyrosine kinase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11816003 LMTK2 lemur tyrosine kinase 2 gene DOID:630 genetic disease ISO RGD:1315801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816003 LMTK2 lemur tyrosine kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18264097 11816024 ACTR1B actin related protein 1B gene DOID:630 genetic disease ISO RGD:1316546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816044 NOL4L nucleolar protein 4 like gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1348785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency PMID:28492532 11816044 NOL4L nucleolar protein 4 like gene DOID:630 genetic disease ISO RGD:1348785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816076 MMP11 matrix metallopeptidase 11 gene DOID:0070045 Coffin-Siris syndrome 3 ISO RGD:735298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 11816076 MMP11 matrix metallopeptidase 11 gene DOID:0081135 agammaglobulinemia 2 ISO RGD:735298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 11816076 MMP11 matrix metallopeptidase 11 gene DOID:1826 epilepsy ISO RGD:735298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11816076 MMP11 matrix metallopeptidase 11 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10741738 11816076 MMP11 matrix metallopeptidase 11 gene DOID:5419 schizophrenia ISO RGD:735298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11816076 MMP11 matrix metallopeptidase 11 gene DOID:630 genetic disease ISO RGD:735298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816076 MMP11 matrix metallopeptidase 11 gene DOID:9003281 Spontaneous Abortions ISO RGD:735298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11816088 ZNF215 zinc finger protein 215 gene DOID:630 genetic disease ISO RGD:1344334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816099 DIPK1B divergent protein kinase domain 1B gene DOID:0050777 Joubert syndrome ISO RGD:1602652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11816099 DIPK1B divergent protein kinase domain 1B gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1602652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11816099 DIPK1B divergent protein kinase domain 1B gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1602652 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11816099 DIPK1B divergent protein kinase domain 1B gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1602652 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11816099 DIPK1B divergent protein kinase domain 1B gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1602652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11816099 DIPK1B divergent protein kinase domain 1B gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1602652 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11816099 DIPK1B divergent protein kinase domain 1B gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1602652 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11816099 DIPK1B divergent protein kinase domain 1B gene DOID:0081097 Rafiq syndrome ISO RGD:1602652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11816099 DIPK1B divergent protein kinase domain 1B gene DOID:1826 epilepsy ISO RGD:1602652 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11816099 DIPK1B divergent protein kinase domain 1B gene DOID:3652 Leigh disease ISO RGD:1602652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11816099 DIPK1B divergent protein kinase domain 1B gene DOID:630 genetic disease ISO RGD:1602652 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816099 DIPK1B divergent protein kinase domain 1B gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1602652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11816108 NFIL3 nuclear factor, interleukin 3 regulated gene DOID:0050589 inflammatory bowel disease ISO RGD:732632 D RGD:9068941 20220825 MouseDO 11816108 NFIL3 nuclear factor, interleukin 3 regulated gene DOID:0050628 advanced sleep phase syndrome ISO RGD:1345604 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25395965 11816108 NFIL3 nuclear factor, interleukin 3 regulated gene DOID:0110002 3-methylglutaconic aciduria type 1 ISO RGD:1345604 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1 PMID:28492532 11816108 NFIL3 nuclear factor, interleukin 3 regulated gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1345604 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 11816108 NFIL3 nuclear factor, interleukin 3 regulated gene DOID:630 genetic disease ISO RGD:1345604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816113 GUCY2D guanylate cyclase 2D, retinal gene DOID:0050572 cone-rod dystrophy ISO RGD:1343485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868|PMID:28492532|PMID:30319355 11816113 GUCY2D guanylate cyclase 2D, retinal gene DOID:0050795 cone dystrophy ISO RGD:1343485 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:10676808|PMID:10951519|PMID:11115851|PMID:11565546|PMID:12552567|PMID:15175914|PMID:18055820|PMID:18487367|PMID:21602930|PMID:24875811|PMID:25741868|PMID:26298565|PMID:28041643|PMID:28492532|PMID:29178642|PMID:30718709|PMID:33546218|PMID:34048777|PMID:8554074|PMID:9618177 11816113 GUCY2D guanylate cyclase 2D, retinal gene DOID:0060711 autosomal recessive congenital ichthyosis 3 ISO RGD:1343485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 PMID:24824130 11816113 GUCY2D guanylate cyclase 2D, retinal gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1343485 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11816113 GUCY2D guanylate cyclase 2D, retinal gene DOID:0110016 Leber congenital amaurosis 2 ISO RGD:1343485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset retinal dystrophy PMID:15024725 11816113 GUCY2D guanylate cyclase 2D, retinal gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:1343485 D RGD:7240710 20180130 OMIM 11816113 GUCY2D guanylate cyclase 2D, retinal gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:1343485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER I | ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:10676808|PMID:10766140|PMID:10951519|PMID:11035546|PMID:11115851|PMID:11328726|PMID:11565546|PMID:12325031|PMID:12552567|PMID:15024725|PMID:15175914|PMID:15691574|PMID:16123401|PMID:16199547|PMID:16205573|PMID:16505055|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055820|PMID:18487367|PMID:20050595|PMID:20683928|PMID:21602930|PMID:23035049|PMID:23484092|PMID:23847139|PMID:24033266|PMID:24875811|PMID:24997176|PMID:25477517|PMID:25741868|PMID:26047050|PMID:26253563|PMID:26298565|PMID:26352687|PMID:26626312|PMID:26957854|PMID:27422788|PMID:28041643|PMID:28492532|PMID:28966547|PMID:29061346|PMID:29178642|PMID:29559409|PMID:30319355|PMID:30718709|PMID:31630094|PMID:32165824|PMID:32821499|PMID:32865313|PMID:33109612|PMID:33546218|PMID:34008892|PMID:34048777|PMID:8554074|PMID:8944027|PMID:9536098|PMID:9618177|PMID:9683616|PMID:9888789 11816113 GUCY2D guanylate cyclase 2D, retinal gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:1343485 D RGD:7240710 20180130 OMIM 11816113 GUCY2D guanylate cyclase 2D, retinal gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:1343485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 | ClinVar Annotator: match by term: Retinal cone dystrophy 2 PMID:10636733|PMID:10676808|PMID:10766140|PMID:10951519|PMID:11035546|PMID:11115851|PMID:11328726|PMID:11565546|PMID:12325031|PMID:12552567|PMID:15024725|PMID:15123990|PMID:15175914|PMID:15504042|PMID:16123401|PMID:16199547|PMID:16505055|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18055820|PMID:18487367|PMID:19959640|PMID:20050595|PMID:20079931|PMID:20517349|PMID:20683928|PMID:21153841|PMID:21602930|PMID:22025579|PMID:22695961|PMID:23035049|PMID:23563732|PMID:23661368|PMID:23734073|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24875811|PMID:24997176|PMID:25477517|PMID:25616661|PMID:25741868|PMID:26047050|PMID:26100624|PMID:26253563|PMID:26298565|PMID:26352687|PMID:26355662|PMID:26626312|PMID:27375279|PMID:27422788|PMID:27703005|PMID:27881908|PMID:28041643|PMID:28341476|PMID:28492532|PMID:28838317|PMID:28966547|PMID:29061346|PMID:29068479|PMID:29178642|PMID:29440533|PMID:29555955|PMID:29559409|PMID:30319355|PMID:30653986|PMID:30718709|PMID:31456290|PMID:31630094|PMID:32141364|PMID:32165824|PMID:32821499|PMID:32865313|PMID:33109612|PMID:33546218|PMID:34008892|PMID:34048777|PMID:8554074|PMID:8944027|PMID:9536098|PMID:9618177|PMID:9683616 11816113 GUCY2D guanylate cyclase 2D, retinal gene DOID:10584 retinitis pigmentosa ISO RGD:1343485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10676808|PMID:11115851|PMID:11565546|PMID:12552567|PMID:24875811|PMID:25741868|PMID:26298565|PMID:28041643|PMID:28492532|PMID:30718709|PMID:33546218 11816113 GUCY2D guanylate cyclase 2D, retinal gene DOID:10584 retinitis pigmentosa susceptibility ISO RGD:1343485 D RGD:9068941 20200609 RGD DNA:mutation:exon PMID:11565546|REF_RGD_ID:1599624 11816113 GUCY2D guanylate cyclase 2D, retinal gene DOID:12177 common variable immunodeficiency ISO RGD:1343485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11816113 GUCY2D guanylate cyclase 2D, retinal gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1343485 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11816113 GUCY2D guanylate cyclase 2D, retinal gene DOID:14791 Leber congenital amaurosis ISO RGD:1343485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital PMID:10676808|PMID:10766140|PMID:10951519|PMID:11115851|PMID:11328726|PMID:11565546|PMID:12552567|PMID:16505055|PMID:17724218|PMID:17964524|PMID:20050595|PMID:20683928|PMID:23035049|PMID:24875811|PMID:25477517|PMID:25741868|PMID:26253563|PMID:26298565|PMID:26626312|PMID:28041643|PMID:28492532|PMID:29061346|PMID:29559409|PMID:30718709|PMID:32165824|PMID:33546218|PMID:34008892|PMID:8944027|PMID:9683616 11816113 GUCY2D guanylate cyclase 2D, retinal gene DOID:14791 Leber congenital amaurosis ISO RGD:1343485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital retinal blindness | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital PMID:10676808|PMID:10766140|PMID:10951519|PMID:11115851|PMID:11328726|PMID:11565546|PMID:12552567|PMID:16505055|PMID:17724218|PMID:20050595|PMID:20683928|PMID:23035049|PMID:24875811|PMID:25477517|PMID:25741868|PMID:26253563|PMID:26298565|PMID:26626312|PMID:28041643|PMID:28492532|PMID:29061346|PMID:29559409|PMID:30319355|PMID:30718709|PMID:31456290|PMID:32165824|PMID:32821499|PMID:32865313|PMID:33109612|PMID:33546218|PMID:34008892|PMID:8944027|PMID:9683616 11816113 GUCY2D guanylate cyclase 2D, retinal gene DOID:2729 dyskeratosis congenita ISO RGD:1343485 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11816113 GUCY2D guanylate cyclase 2D, retinal gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1343485 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 11816113 GUCY2D guanylate cyclase 2D, retinal gene DOID:4448 macular degeneration ISO RGD:1343485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:10676808|PMID:11115851|PMID:11565546|PMID:12552567|PMID:24875811|PMID:25741868|PMID:26298565|PMID:28041643|PMID:28492532|PMID:30718709|PMID:33546218 11816113 GUCY2D guanylate cyclase 2D, retinal gene DOID:630 genetic disease ISO RGD:1343485 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10951519|PMID:11328726|PMID:15024725|PMID:16199547|PMID:17964524|PMID:25741868|PMID:26047050|PMID:28492532 11816113 GUCY2D guanylate cyclase 2D, retinal gene DOID:8501 fundus dystrophy ISO RGD:1343485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10676808|PMID:10766140|PMID:10951519|PMID:11035546|PMID:11115851|PMID:11328726|PMID:11565546|PMID:12552567|PMID:15123990|PMID:15175914|PMID:16505055|PMID:17724218|PMID:17964524|PMID:18487367|PMID:20050595|PMID:21602930|PMID:23035049|PMID:24875811|PMID:25477517|PMID:25741868|PMID:26047050|PMID:26253563|PMID:26298565|PMID:26626312|PMID:28041643|PMID:28492532|PMID:29061346|PMID:29555955|PMID:29559409|PMID:30319355|PMID:30718709|PMID:33546218|PMID:34008892|PMID:8554074|PMID:9618177 11816113 GUCY2D guanylate cyclase 2D, retinal gene DOID:9000343 Vision Disorders ISO RGD:1343485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:10676808|PMID:11115851|PMID:11565546|PMID:12552567|PMID:24875811|PMID:25741868|PMID:26298565|PMID:28041643|PMID:28492532|PMID:30718709|PMID:33546218 11816113 GUCY2D guanylate cyclase 2D, retinal gene DOID:9004519 Congenital Stationary Night Blindness 1I ISO RGD:1343485 D RGD:7240710 20190911 OMIM 11816113 GUCY2D guanylate cyclase 2D, retinal gene DOID:9004519 Congenital Stationary Night Blindness 1I ISO RGD:1343485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1I PMID:10766140|PMID:16505055|PMID:17724218|PMID:20050595|PMID:23035049|PMID:25477517|PMID:25741868|PMID:26253563|PMID:26626312|PMID:28492532|PMID:29061346|PMID:29559409|PMID:30319355|PMID:30718709|PMID:32821499|PMID:33109612|PMID:34008892 11816113 GUCY2D guanylate cyclase 2D, retinal gene DOID:9650 pathologic nystagmus ISO RGD:1343485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:17964524|PMID:25741868|PMID:28492532|PMID:33546218 11816113 GUCY2D guanylate cyclase 2D, retinal gene DOID:980 choroidal sclerosis ISO RGD:1343485 D RGD:7240710 20190315 OMIM 11816113 GUCY2D guanylate cyclase 2D, retinal gene DOID:980 choroidal sclerosis ISO RGD:1343485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Choroidal dystrophy, central areolar, 1 PMID:10766140|PMID:10951519|PMID:11035546|PMID:11115851|PMID:11328726|PMID:11565546|PMID:12552567|PMID:15024725|PMID:15175914|PMID:16505055|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18487367|PMID:20050595|PMID:20683928|PMID:22695961|PMID:23035049|PMID:24033266|PMID:25477517|PMID:25741868|PMID:26253563|PMID:26298565|PMID:26626312|PMID:28492532|PMID:29061346|PMID:29559409|PMID:30718709|PMID:31456290|PMID:32865313|PMID:33546218|PMID:34008892|PMID:8554074|PMID:8733141|PMID:8944027|PMID:9536098|PMID:9618177|PMID:9683616 11816135 TPD52L2 TPD52 like 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1352243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 11816135 TPD52L2 TPD52 like 2 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1352243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 11816135 TPD52L2 TPD52 like 2 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1352243 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11816135 TPD52L2 TPD52 like 2 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1352243 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 11816135 TPD52L2 TPD52 like 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1352243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 11816135 TPD52L2 TPD52 like 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1352243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 11816135 TPD52L2 TPD52 like 2 gene DOID:630 genetic disease ISO RGD:1352243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816155 GPC3 glypican 3 gene DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 ISO RGD:737615 D RGD:7240710 20180130 OMIM 11816155 GPC3 glypican 3 gene DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 ISO RGD:737615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dysplasia gigantism syndrome, X-linked | ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1 PMID:10402475|PMID:10814714|PMID:12713262|PMID:16158429|PMID:17603795|PMID:17850639|PMID:18203194|PMID:19215053|PMID:20301398|PMID:23606591|PMID:24459012|PMID:25741868|PMID:26321508|PMID:28492532|PMID:9950367 11816155 GPC3 glypican 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:737615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11816155 GPC3 glypican 3 gene DOID:0112127 HRPT-related hyperuricemia ISO RGD:737615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency PMID:11018746|PMID:15571220|PMID:17027311|PMID:22157001|PMID:23975452|PMID:28492532|PMID:6087154 11816155 GPC3 glypican 3 gene DOID:1059 intellectual disability ISO RGD:737615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11816155 GPC3 glypican 3 gene DOID:12849 autistic disorder ISO RGD:737615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11816155 GPC3 glypican 3 gene DOID:2129 atypical teratoid rhabdoid tumor ISO RGD:737615 D RGD:9068941 20230413 RGD protein:increased expression:brain (human) PMID:23530909|REF_RGD_ID:243065128 11816155 GPC3 glypican 3 gene DOID:2154 nephroblastoma ISO RGD:737615 D RGD:7240710 20180130 OMIM 11816155 GPC3 glypican 3 gene DOID:2154 nephroblastoma ISO RGD:737615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1 PMID:10402475|PMID:10814714|PMID:12085187|PMID:12713262|PMID:16199547|PMID:17576681|PMID:17603795|PMID:17850639|PMID:19215053|PMID:20683991|PMID:20950395|PMID:21362501|PMID:21434539|PMID:24033266|PMID:24169032|PMID:24214682|PMID:24357529|PMID:24459012|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29637653|PMID:31304847|PMID:8589713|PMID:8958336|PMID:9192268|PMID:9536098 11816155 GPC3 glypican 3 gene DOID:2154 nephroblastoma ISO RGD:737615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilms tumor 1 PMID:10402475|PMID:10814714|PMID:12085187|PMID:12713262|PMID:16199547|PMID:17576681|PMID:17603795|PMID:17850639|PMID:19215053|PMID:20683991|PMID:20950395|PMID:21434539|PMID:24033266|PMID:24169032|PMID:24214682|PMID:24357529|PMID:24459012|PMID:24728327|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27739211|PMID:28492532|PMID:29637653|PMID:8589713|PMID:8958336|PMID:9192268|PMID:9536098 11816155 GPC3 glypican 3 gene DOID:2394 ovarian cancer ISO RGD:737615 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 11816155 GPC3 glypican 3 gene DOID:3596 placental site trophoblastic tumor ISO RGD:737615 D RGD:9068941 20230413 RGD protein:increased expression:placenta, trophoblast cells (human) PMID:20868507|REF_RGD_ID:243065141 11816155 GPC3 glypican 3 gene DOID:5082 liver cirrhosis ISO RGD:737615 D RGD:9068941 20230413 RGD protein:increased expression:blood serum (human) PMID:28801286|REF_RGD_ID:243065135 11816155 GPC3 glypican 3 gene DOID:5176 renal Wilms' tumor disease_progression ISO RGD:737615 D RGD:9068941 20230413 RGD mRNA, protein:increased expression:kidney (human) PMID:25366870|REF_RGD_ID:243065136 11816155 GPC3 glypican 3 gene DOID:630 genetic disease ISO RGD:737615 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10402475|PMID:12713262|PMID:17603795|PMID:18203194|PMID:19215053|PMID:20683991|PMID:20950395|PMID:23606591|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8589713 11816155 GPC3 glypican 3 gene DOID:684 hepatocellular carcinoma ISO RGD:737615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16698587|PMID:28284560 11816155 GPC3 glypican 3 gene DOID:684 hepatocellular carcinoma ISO RGD:737615 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:25449037|REF_RGD_ID:14695020 11816155 GPC3 glypican 3 gene DOID:684 hepatocellular carcinoma ISO RGD:737615 D RGD:9068941 20230413 RGD protein:increased expression:blood serum (human) PMID:28801286|REF_RGD_ID:243065135 11816155 GPC3 glypican 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737615 D RGD:9068941 20230413 RGD mRNA:increased expression:Peripheral Blood (human) PMID:21438004|REF_RGD_ID:243065125 11816155 GPC3 glypican 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737615 D RGD:9068941 20230413 RGD protein:increased expression:liver (human) PMID:22883669|REF_RGD_ID:243065139 11816155 GPC3 glypican 3 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:737615 D RGD:9068941 20230413 RGD protein:increased expression:liver (human) PMID:27286460|REF_RGD_ID:243065134 11816155 GPC3 glypican 3 gene DOID:684 hepatocellular carcinoma severity ISO RGD:737615 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:19496787|REF_RGD_ID:14695019 11816155 GPC3 glypican 3 gene DOID:684 hepatocellular carcinoma severity ISO RGD:737615 D RGD:9068941 20230413 RGD mRNA,protein:increased expression:peripheral blood mononuclear cell,blood serum, liver (human) PMID:23558072|REF_RGD_ID:243065131 11816155 GPC3 glypican 3 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2725 D RGD:9068941 20200609 RGD PMID:25449037|REF_RGD_ID:14695020 11816155 GPC3 glypican 3 gene DOID:687 hepatoblastoma ISO RGD:737615 D RGD:9068941 20230413 RGD protein:increased expression:liver (human) PMID:23530909|REF_RGD_ID:243065128 11816155 GPC3 glypican 3 gene DOID:9000018 Coronary Vessel Anomalies ISO RGD:10677 D RGD:9068941 20230413 RGD PMID:19733558|REF_RGD_ID:243065129 11816155 GPC3 glypican 3 gene DOID:9003566 Mesothelioma ISO RGD:737615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10656689 11816155 GPC3 glypican 3 gene DOID:9006618 Liver Metastasis ISO RGD:737615 D RGD:9068941 20230413 RGD protein:increased expression:blood serum (human) PMID:28801286|REF_RGD_ID:243065135 11816155 GPC3 glypican 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737615 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532 11816155 GPC3 glypican 3 gene DOID:9007329 Human Viral Hepatitis ISO RGD:737615 D RGD:9068941 20230413 RGD protein:increased expression:blood serum (human) PMID:28801286|REF_RGD_ID:243065135 11816167 KCNA4 potassium voltage-gated channel subfamily A member 4 gene DOID:1059 intellectual disability ISO RGD:731771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11816167 KCNA4 potassium voltage-gated channel subfamily A member 4 gene DOID:630 genetic disease ISO RGD:731771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816167 KCNA4 potassium voltage-gated channel subfamily A member 4 gene DOID:9003021 Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum ISO RGD:731771 D RGD:7240710 20190315 OMIM 11816167 KCNA4 potassium voltage-gated channel subfamily A member 4 gene DOID:9003021 Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum ISO RGD:731771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum PMID:23181898|PMID:25741868|PMID:27582084 11816193 RBM48 RNA binding motif protein 48 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1602202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a PMID:25741868|PMID:28492532 11816193 RBM48 RNA binding motif protein 48 gene DOID:12712 nephronophthisis ISO RGD:1602202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:26489029 11816193 RBM48 RNA binding motif protein 48 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11816193 RBM48 RNA binding motif protein 48 gene DOID:630 genetic disease ISO RGD:1602202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11816193 RBM48 RNA binding motif protein 48 gene DOID:9006420 Zellweger Leukodystrophy ISO RGD:1602202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:25741868|PMID:28492532 11816193 RBM48 RNA binding motif protein 48 gene DOID:905 Zellweger syndrome ISO RGD:1602202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Zellweger Spectrum PMID:25741868|PMID:28492532 11816207 CCNA1 cyclin A1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1321661 D RGD:9068941 20200609 RGD human gene, mouse model PMID:18612129|REF_RGD_ID:2316302 11816207 CCNA1 cyclin A1 gene DOID:11166 papillomavirus infectious disease ISO RGD:1321661 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23358896 11816207 CCNA1 cyclin A1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1321661 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23358896|PMID:29464035 11816207 CCNA1 cyclin A1 gene DOID:630 genetic disease ISO RGD:1321661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816207 CCNA1 cyclin A1 gene DOID:684 hepatocellular carcinoma ISO RGD:1321661 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12029619 11816207 CCNA1 cyclin A1 gene DOID:9004207 Testicular Neoplasms ISO RGD:1321661 D RGD:9068941 20200609 RGD mRNA:decreased expression:testis (human) PMID:15800920|REF_RGD_ID:2289152 11816207 CCNA1 cyclin A1 gene DOID:9119 acute myeloid leukemia ISO RGD:1321661 D RGD:9068941 20200609 RGD protein:increased expression:leukocyte (human) PMID:10068680|REF_RGD_ID:2316304 11816235 NAIP NLR family apoptosis inhibitory protein gene DOID:0050773 paraganglioma exacerbates ISO RGD:1343112 D RGD:9068941 20220818 RGD mRNA:increased expression:adrenal gland, chromaffin cell (human) PMID:31964418|REF_RGD_ID:153344516 11816235 NAIP NLR family apoptosis inhibitory protein gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1343112 D RGD:9068941 20220721 RGD protein:increased expression:oral cavity (human) PMID:20967871|REF_RGD_ID:152999012 11816235 NAIP NLR family apoptosis inhibitory protein gene DOID:0060108 brain glioma exacerbates ISO RGD:1343112 D RGD:9068941 20220818 RGD mRNA:increased expression:brain (human) PMID:31964418|REF_RGD_ID:153344516 11816235 NAIP NLR family apoptosis inhibitory protein gene DOID:0080600 COVID-19 ISO RGD:1343112 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11816235 NAIP NLR family apoptosis inhibitory protein gene DOID:13938 amenorrhea ISO RGD:1343112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11816235 NAIP NLR family apoptosis inhibitory protein gene DOID:2316 brain ischemia ISO RGD:621281 D RGD:9068941 20200609 RGD protein:increased expression:thalamus (rat) PMID:9288726|REF_RGD_ID:2317254 11816235 NAIP NLR family apoptosis inhibitory protein gene DOID:234 colon adenocarcinoma exacerbates ISO RGD:1343112 D RGD:9068941 20220818 RGD mRNA:increased expression:colon (human) PMID:31964418|REF_RGD_ID:153344516 11816235 NAIP NLR family apoptosis inhibitory protein gene DOID:3275 thymoma ameliorates ISO RGD:1343112 D RGD:9068941 20220818 RGD mRNA:increased expression:thymus (human) PMID:31964418|REF_RGD_ID:153344516 11816235 NAIP NLR family apoptosis inhibitory protein gene DOID:3459 breast carcinoma disease_progression ISO RGD:1343112 D RGD:9068941 20220818 RGD mRNA:decreased expression:breast (human) PMID:31964418|REF_RGD_ID:153344516 11816235 NAIP NLR family apoptosis inhibitory protein gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:1343112 D RGD:9068941 20220818 RGD mRNA:increased expression:stomach (human) PMID:31964418|REF_RGD_ID:153344516 11816235 NAIP NLR family apoptosis inhibitory protein gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1343112 D RGD:9068941 20220818 RGD mRNA:increased expression:lung (human) PMID:31964418|REF_RGD_ID:153344516 11816235 NAIP NLR family apoptosis inhibitory protein gene DOID:5520 head and neck squamous cell carcinoma ameliorates ISO RGD:1343112 D RGD:9068941 20220818 RGD mRNA:increased expression:head or neck skin (human) PMID:31964418|REF_RGD_ID:153344516 11816235 NAIP NLR family apoptosis inhibitory protein gene DOID:630 genetic disease ISO RGD:1343112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816235 NAIP NLR family apoptosis inhibitory protein gene DOID:8923 skin melanoma exacerbates ISO RGD:1343112 D RGD:9068941 20220818 RGD mRNA:increased expression:zone of skin (human) PMID:31964418|REF_RGD_ID:153344516 11816235 NAIP NLR family apoptosis inhibitory protein gene DOID:9003654 Testicular Germ Cell Tumor exacerbates ISO RGD:1343112 D RGD:9068941 20220818 RGD mRNA:increased expression:testis (human) PMID:31964418|REF_RGD_ID:153344516 11816235 NAIP NLR family apoptosis inhibitory protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11816262 MTMR4 myotubularin related protein 4 gene DOID:0050777 Joubert syndrome ISO RGD:1321134 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11816262 MTMR4 myotubularin related protein 4 gene DOID:0111096 Fanconi anemia complementation group O ISO RGD:1321134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group O PMID:28492532 11816262 MTMR4 myotubularin related protein 4 gene DOID:1790 malignant mesothelioma ISO RGD:1321134 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 11816262 MTMR4 myotubularin related protein 4 gene DOID:630 genetic disease ISO RGD:1321134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816262 MTMR4 myotubularin related protein 4 gene DOID:767 muscular atrophy ISO RGD:1310306 D RGD:9068941 20200609 RGD protein:decreased expression:gastrocnemius PMID:19125695|REF_RGD_ID:7242174 11816297 LOC100990608 contactin-6 gene DOID:0060041 autism spectrum disorder ISO RGD:733383 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:23872404|PMID:25606055|PMID:25741868|PMID:26257835|PMID:30826922 11816297 LOC100990608 contactin-6 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:733383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11816297 LOC100990608 contactin-6 gene DOID:12849 autistic disorder ISO RGD:733383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:21681106|PMID:30208311 11816297 LOC100990608 contactin-6 gene DOID:5419 schizophrenia ISO RGD:733383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11816297 LOC100990608 contactin-6 gene DOID:630 genetic disease ISO RGD:733383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816297 LOC100990608 contactin-6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11816333 AXDND1 axonemal dynein light chain domain containing 1 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1605000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 11816333 AXDND1 axonemal dynein light chain domain containing 1 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1605000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:10742096|PMID:11805166|PMID:12464671|PMID:12707396|PMID:14675423|PMID:14978175|PMID:15015071|PMID:15253708|PMID:15327385|PMID:15496146|PMID:15769810|PMID:15817495|PMID:16354237|PMID:16898497|PMID:17371932|PMID:17576681|PMID:17899208|PMID:18216321|PMID:18443213|PMID:18709391|PMID:18823551|PMID:19145239|PMID:19406966|PMID:19876656|PMID:20507940|PMID:20798252|PMID:20947785|PMID:21171529|PMID:21355056|PMID:21415313|PMID:22565185|PMID:22578956|PMID:22763815|PMID:23242530|PMID:23349334|PMID:23515051|PMID:23595123|PMID:23645318|PMID:24033266|PMID:24227627|PMID:24413855|PMID:24509478|PMID:24742477|PMID:24856380|PMID:25349199|PMID:25525159|PMID:25741868|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:26594346|PMID:26668027|PMID:28476686|PMID:28492532|PMID:28658201|PMID:28780565|PMID:29382718|PMID:29644057|PMID:29660491|PMID:29982877|PMID:30013592|PMID:30260545|PMID:30295827|PMID:30406062|PMID:30450462|PMID:30655312|PMID:31308032|PMID:32581362|PMID:32604935|PMID:33532864|PMID:8589695|PMID:9536098 11816333 AXDND1 axonemal dynein light chain domain containing 1 gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1605000 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Idiopathic nephrotic syndrome PMID:11805166|PMID:12464671|PMID:12707396|PMID:14978175|PMID:15253708|PMID:15769810|PMID:16354237|PMID:16898497|PMID:18823551|PMID:19145239|PMID:19876656|PMID:20798252|PMID:20947785|PMID:21355056|PMID:21415313|PMID:23349334|PMID:23515051|PMID:23645318|PMID:24227627|PMID:24509478|PMID:25349199|PMID:25741868|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:28492532|PMID:28780565|PMID:29382718|PMID:29644057|PMID:29660491|PMID:29982877|PMID:32604935 11816333 AXDND1 axonemal dynein light chain domain containing 1 gene DOID:1184 nephrotic syndrome ISO RGD:1605000 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome PMID:10742096|PMID:11805166|PMID:12464671|PMID:12707396|PMID:15253708|PMID:15327385|PMID:18823551|PMID:19145239|PMID:19406966|PMID:20798252|PMID:20947785|PMID:21355056|PMID:22763815|PMID:23515051|PMID:23645318|PMID:24509478|PMID:24742477|PMID:25349199|PMID:25741868|PMID:26413278|PMID:28492532|PMID:28780565|PMID:29127259|PMID:29382718|PMID:29644057|PMID:29660491|PMID:30655312|PMID:32581362|PMID:8589695 11816333 AXDND1 axonemal dynein light chain domain containing 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1605000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:10742096|PMID:11805166|PMID:15253708|PMID:15327385|PMID:18823551|PMID:19406966|PMID:20947785|PMID:21355056|PMID:24509478|PMID:24742477|PMID:25741868|PMID:28492532|PMID:30655312|PMID:32581362|PMID:8589695 11816333 AXDND1 axonemal dynein light chain domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1605000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11816333 AXDND1 axonemal dynein light chain domain containing 1 gene DOID:557 kidney disease ISO RGD:1605000 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 11816333 AXDND1 axonemal dynein light chain domain containing 1 gene DOID:576 proteinuria ISO RGD:1605000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proteinuria 11816333 AXDND1 axonemal dynein light chain domain containing 1 gene DOID:630 genetic disease ISO RGD:1605000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816333 AXDND1 axonemal dynein light chain domain containing 1 gene DOID:784 chronic kidney disease ISO RGD:1605000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:10742096|PMID:11805166|PMID:15253708|PMID:15327385|PMID:18823551|PMID:19406966|PMID:20947785|PMID:21355056|PMID:24509478|PMID:24742477|PMID:25741868|PMID:28492532|PMID:30655312|PMID:32581362|PMID:8589695 11816333 AXDND1 axonemal dynein light chain domain containing 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1605000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11816333 AXDND1 axonemal dynein light chain domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11816364 GRSF1 G-rich RNA sequence binding factor 1 gene DOID:630 genetic disease ISO RGD:1322002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816364 GRSF1 G-rich RNA sequence binding factor 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1322002 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11816384 ACY3 aminoacylase 3 gene DOID:1059 intellectual disability ISO RGD:1352202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11816384 ACY3 aminoacylase 3 gene DOID:630 genetic disease ISO RGD:1352202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816384 ACY3 aminoacylase 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1352202 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11816384 ACY3 aminoacylase 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1352202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11816402 HHLA1 HHLA1 neighbor of OC90 gene DOID:630 genetic disease ISO RGD:1353531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816422 HERC3 HECT and RLD domain containing E3 ubiquitin protein ligase 3 gene DOID:630 genetic disease ISO RGD:1351757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816422 HERC3 HECT and RLD domain containing E3 ubiquitin protein ligase 3 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1351757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 11816422 HERC3 HECT and RLD domain containing E3 ubiquitin protein ligase 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1351757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11816461 TCF19 transcription factor 19 gene DOID:0050553 JMP syndrome ISO RGD:1345711 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11816461 TCF19 transcription factor 19 gene DOID:10003 sensorineural hearing loss ISO RGD:1345711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 11816461 TCF19 transcription factor 19 gene DOID:11372 megacolon ISO RGD:1345711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11816461 TCF19 transcription factor 19 gene DOID:630 genetic disease ISO RGD:1345711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816461 TCF19 transcription factor 19 gene DOID:684 hepatocellular carcinoma ISO RGD:1345711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11816461 TCF19 transcription factor 19 gene DOID:9002928 Colonic Neoplasms ISO RGD:1345711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 11816473 RFC4 replication factor C subunit 4 gene DOID:0060575 3MC syndrome 1 ISO RGD:1320871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 11816473 RFC4 replication factor C subunit 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1320871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11816473 RFC4 replication factor C subunit 4 gene DOID:630 genetic disease ISO RGD:1320871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816473 RFC4 replication factor C subunit 4 gene DOID:9006205 Animal Disease Models ISO RGD:1320871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11816537 KCNV1 potassium voltage-gated channel modifier subfamily V member 1 gene DOID:630 genetic disease ISO RGD:731335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816545 LOC100969970 olfactory receptor 2T2 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1346426 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11816545 LOC100969970 olfactory receptor 2T2 gene DOID:1540 parathyroid carcinoma ISO RGD:1346426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11816545 LOC100969970 olfactory receptor 2T2 gene DOID:630 genetic disease ISO RGD:1346426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816545 LOC100969970 olfactory receptor 2T2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11816548 NPRL2 NPR2 like, GATOR1 complex subunit gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532|PMID:30410802 11816548 NPRL2 NPR2 like, GATOR1 complex subunit gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532|PMID:30410802 11816548 NPRL2 NPR2 like, GATOR1 complex subunit gene DOID:12716 newborn respiratory distress syndrome ISO RGD:1318978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal respiratory distress PMID:25741868 11816548 NPRL2 NPR2 like, GATOR1 complex subunit gene DOID:1826 epilepsy ISO RGD:1318978 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26505888|PMID:27173016|PMID:28199897|PMID:30093711|PMID:31639411|PMID:33461085 11816548 NPRL2 NPR2 like, GATOR1 complex subunit gene DOID:5419 schizophrenia ISO RGD:1318978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 11816548 NPRL2 NPR2 like, GATOR1 complex subunit gene DOID:630 genetic disease ISO RGD:1318978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26505888|PMID:27173016|PMID:28199897|PMID:28492532|PMID:30093711|PMID:31639411|PMID:33461085 11816548 NPRL2 NPR2 like, GATOR1 complex subunit gene DOID:9000342 Familial Focal Epilepsy, with Variable Foci 2 ISO RGD:1318978 D RGD:7240710 20190315 OMIM 11816548 NPRL2 NPR2 like, GATOR1 complex subunit gene DOID:9000342 Familial Focal Epilepsy, with Variable Foci 2 ISO RGD:1318978 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 2 PMID:25741868|PMID:26505888|PMID:27173016|PMID:28199897|PMID:30093711|PMID:31639411|PMID:33461085 11816548 NPRL2 NPR2 like, GATOR1 complex subunit gene DOID:9001601 Familial Focal Epilepsy, with Variable Foci 1 ISO RGD:1318978 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial focal epilepsy with variable foci PMID:25741868 11816548 NPRL2 NPR2 like, GATOR1 complex subunit gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11816584 DYNLT3 dynein light chain Tctex-type 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11816584 DYNLT3 dynein light chain Tctex-type 3 gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:1350586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked PMID:22929960|PMID:27701760|PMID:28492532 11816584 DYNLT3 dynein light chain Tctex-type 3 gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1350586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 11816584 DYNLT3 dynein light chain Tctex-type 3 gene DOID:12849 autistic disorder ISO RGD:1350586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11816584 DYNLT3 dynein light chain Tctex-type 3 gene DOID:630 genetic disease ISO RGD:1350586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816584 DYNLT3 dynein light chain Tctex-type 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11816584 DYNLT3 dynein light chain Tctex-type 3 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1350586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:10946359|PMID:11793468|PMID:16786505|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 11816584 DYNLT3 dynein light chain Tctex-type 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1350586 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11816594 LOC100995452 nascent polypeptide associated complex subunit alpha gene DOID:0060224 atrial fibrillation ISO RGD:1318533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11816594 LOC100995452 nascent polypeptide associated complex subunit alpha gene DOID:630 genetic disease ISO RGD:1318533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816621 ZNF285 zinc finger protein 285 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1342926 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 11816621 ZNF285 zinc finger protein 285 gene DOID:630 genetic disease ISO RGD:1342926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816635 SCAF8 SR-related CTD associated factor 8 gene DOID:0060041 autism spectrum disorder ISO RGD:1342919 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11816635 SCAF8 SR-related CTD associated factor 8 gene DOID:630 genetic disease ISO RGD:1342919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816679 GABPA GA binding protein transcription factor subunit alpha gene DOID:10652 Alzheimer's disease ISO RGD:1321915 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:22491860|PMID:24691562|PMID:25741868|PMID:28492532 11816679 GABPA GA binding protein transcription factor subunit alpha gene DOID:630 genetic disease ISO RGD:1321915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816679 GABPA GA binding protein transcription factor subunit alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11816707 OCA2 OCA2 melanosomal transmembrane protein gene DOID:0050632 oculocutaneous albinism ISO RGD:1352949 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:19060277|PMID:23824587|PMID:25741868|PMID:27734839|PMID:28224992|PMID:28492532|PMID:28667292|PMID:29345414 11816707 OCA2 OCA2 melanosomal transmembrane protein gene DOID:0060041 autism spectrum disorder ISO RGD:1352949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 11816707 OCA2 OCA2 melanosomal transmembrane protein gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1352949 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 11816707 OCA2 OCA2 melanosomal transmembrane protein gene DOID:0070096 oculocutaneous albinism type II ISO RGD:1352949 D RGD:7240710 20180130 OMIM 11816707 OCA2 OCA2 melanosomal transmembrane protein gene DOID:0070096 oculocutaneous albinism type II ISO RGD:1352949 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism PMID:10094567|PMID:10649493|PMID:10671067|PMID:10905897|PMID:10987646|PMID:11179026|PMID:11464238|PMID:12163334|PMID:12469324|PMID:12687678|PMID:12713581|PMID:12876664|PMID:15173252|PMID:15712365|PMID:15889046|PMID:15942220|PMID:16199547|PMID:17160937|PMID:17236130|PMID:17385796|PMID:17568986|PMID:17576681|PMID:1773534|PMID:17767372|PMID:17960121|PMID:18252222|PMID:18326704|PMID:18463683|PMID:18683130|PMID:18821858|PMID:19060277|PMID:19865097|PMID:20019752|PMID:20301410|PMID:20426782|PMID:20806075|PMID:20861488|PMID:21085994|PMID:21458243|PMID:21541274|PMID:22734612|PMID:23010199|PMID:23103111|PMID:23504663|PMID:23744323|PMID:23824587|PMID:24033266|PMID:24118800|PMID:24361966|PMID:24518832|PMID:24845642|PMID:25060099|PMID:25412400|PMID:25455140|PMID:25513726|PMID:25741868|PMID:25809079|PMID:25919014|PMID:26165494|PMID:26474496|PMID:26818737|PMID:27231233|PMID:27468418|PMID:27734839|PMID:27887888|PMID:28041643|PMID:28224992|PMID:28266639|PMID:28451379|PMID:28492532|PMID:28667292|PMID:28726809|PMID:28976636|PMID:29036293|PMID:29095814|PMID:29345414|PMID:29437493|PMID:30025130|PMID:30414346|PMID:30835348|PMID:31077556|PMID:31141302|PMID:31196117|PMID:31229681|PMID:31719542|PMID:31813138|PMID:32741191|PMID:32783370|PMID:32830442|PMID:33124154|PMID:33974259|PMID:34707637|PMID:35393538|PMID:7762554|PMID:7874125|PMID:7920637|PMID:8302318|PMID:8980282|PMID:9259203|PMID:9536098 11816707 OCA2 OCA2 melanosomal transmembrane protein gene DOID:11983 Prader-Willi syndrome ISO RGD:1352949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 11816707 OCA2 OCA2 melanosomal transmembrane protein gene DOID:12849 autistic disorder ISO RGD:1352949 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 11816707 OCA2 OCA2 melanosomal transmembrane protein gene DOID:13250 diarrhea ISO RGD:1352949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diarrhea PMID:23010199|PMID:25741868|PMID:28492532|PMID:28667292 11816707 OCA2 OCA2 melanosomal transmembrane protein gene DOID:1749 squamous cell carcinoma susceptibility ISO RGD:1352949 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.A481T (rs74653330) (human) PMID:24617981|REF_RGD_ID:9491831 11816707 OCA2 OCA2 melanosomal transmembrane protein gene DOID:1932 Angelman syndrome ISO RGD:1352949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:24088041|PMID:26633545 11816707 OCA2 OCA2 melanosomal transmembrane protein gene DOID:2513 basal cell carcinoma susceptibility ISO RGD:1352949 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R419Q (rs1800407) (human) PMID:19384953|REF_RGD_ID:9491841 11816707 OCA2 OCA2 melanosomal transmembrane protein gene DOID:2513 basal cell carcinoma susceptibility ISO RGD:1352949 D RGD:9068941 20200609 RGD DNA:snps:intron:IVS1+132A>G (rs7495174), IVS1+8550A>G (rs11855019), IVS1+15605G>A (rs7174027) (human) PMID:21270109|REF_RGD_ID:9491840 11816707 OCA2 OCA2 melanosomal transmembrane protein gene DOID:5419 schizophrenia ISO RGD:1352949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11816707 OCA2 OCA2 melanosomal transmembrane protein gene DOID:630 genetic disease ISO RGD:1352949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10094567|PMID:10649493|PMID:10671067|PMID:10905897|PMID:10987646|PMID:11464238|PMID:15712365|PMID:17385796|PMID:1773534|PMID:17960121|PMID:18326704|PMID:18463683|PMID:18683130|PMID:19865097|PMID:20019752|PMID:20301410|PMID:20861488|PMID:21541274|PMID:23010199|PMID:23504663|PMID:23744323|PMID:24033266|PMID:24518832|PMID:25513726|PMID:25741868|PMID:26165494|PMID:26474496|PMID:27231233|PMID:27468418|PMID:27734839|PMID:28041643|PMID:28451379|PMID:28492532|PMID:28667292|PMID:28976636|PMID:29345414|PMID:29437493|PMID:31077556|PMID:31196117|PMID:32741191|PMID:32830442|PMID:8302318|PMID:8980282 11816707 OCA2 OCA2 melanosomal transmembrane protein gene DOID:8866 actinic keratosis susceptibility ISO RGD:1352949 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.A481T (rs74653330) (human) PMID:24617981|REF_RGD_ID:9491831 11816707 OCA2 OCA2 melanosomal transmembrane protein gene DOID:8923 skin melanoma susceptibility ISO RGD:1352949 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.H615R (rs1800414) (human) PMID:24617981|REF_RGD_ID:9491831 11816707 OCA2 OCA2 melanosomal transmembrane protein gene DOID:8923 skin melanoma susceptibility ISO RGD:1352949 D RGD:9068941 20200609 RGD DNA:snp:cds:p.R419Q (rs1800407) (human) PMID:19710684|REF_RGD_ID:9491818 11816707 OCA2 OCA2 melanosomal transmembrane protein gene DOID:8923 skin melanoma susceptibility ISO RGD:1352949 D RGD:9068941 20200609 RGD DNA:snps:exon, intron:multiple (human) PMID:15889046|REF_RGD_ID:9491829 11816707 OCA2 OCA2 melanosomal transmembrane protein gene DOID:9000752 Skin/Hair/Eye Pigmentation, Variation In, 1 ISO RGD:1352949 D RGD:7240710 20180130 OMIM 11816707 OCA2 OCA2 melanosomal transmembrane protein gene DOID:9000752 Skin/Hair/Eye Pigmentation, Variation In, 1 ISO RGD:1352949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 1 PMID:10987646|PMID:12163334|PMID:12876664|PMID:15889046|PMID:18252222|PMID:23504663|PMID:25741868|PMID:28492532|PMID:30414346|PMID:7874125 11816707 OCA2 OCA2 melanosomal transmembrane protein gene DOID:9001386 Albinism ISO RGD:1352949 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Albinism PMID:19060277|PMID:23824587|PMID:25741868|PMID:27734839|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28667292|PMID:28976636|PMID:29345414|PMID:32741191 11816707 OCA2 OCA2 melanosomal transmembrane protein gene DOID:9003119 Nonsyndromic Oculocutaneous Albinism ISO RGD:1352949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism PMID:10649493|PMID:12876664|PMID:18463683|PMID:20426782|PMID:20861488|PMID:22734612|PMID:23504663|PMID:23744323|PMID:24033266|PMID:24118800|PMID:24361966|PMID:24518832|PMID:24845642|PMID:25741868|PMID:26165494|PMID:27734839|PMID:28266639|PMID:28492532|PMID:31077556|PMID:31229681|PMID:7874125|PMID:8302318 11816707 OCA2 OCA2 melanosomal transmembrane protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11816707 OCA2 OCA2 melanosomal transmembrane protein gene DOID:9004823 Brown Oculocutaneous Albinism ISO RGD:1352949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown oculocutaneous albinism PMID:11179026|PMID:17767372|PMID:7920637 11816707 OCA2 OCA2 melanosomal transmembrane protein gene DOID:9009060 Childhood Absence Epilepsy 1 ISO RGD:1352949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 PMID:11198279|PMID:26068938|PMID:26950270|PMID:28053010|PMID:28492532 11816745 PTRHD1 peptidyl-tRNA hydrolase domain containing 1 gene DOID:0080855 Parkinsonism ISO RGD:1606864 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Parkinsonism PMID:27134041|PMID:27753167 11816745 PTRHD1 peptidyl-tRNA hydrolase domain containing 1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1606864 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 11816745 PTRHD1 peptidyl-tRNA hydrolase domain containing 1 gene DOID:630 genetic disease ISO RGD:1606864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816745 PTRHD1 peptidyl-tRNA hydrolase domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606864 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11816751 MAGEB6 MAGE family member B6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348631 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11816751 MAGEB6 MAGE family member B6 gene DOID:12849 autistic disorder ISO RGD:1348631 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11816751 MAGEB6 MAGE family member B6 gene DOID:630 genetic disease ISO RGD:1348631 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816751 MAGEB6 MAGE family member B6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348631 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11816754 COL5A3 collagen type V alpha 3 chain gene DOID:10126 keratoconus ISO RGD:736080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 11816754 COL5A3 collagen type V alpha 3 chain gene DOID:12849 autistic disorder ISO RGD:736080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11816754 COL5A3 collagen type V alpha 3 chain gene DOID:630 genetic disease ISO RGD:736080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816754 COL5A3 collagen type V alpha 3 chain gene DOID:9002304 Prostatic Neoplasms ISO RGD:736080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11816833 RESP18 regulated endocrine specific protein 18 gene DOID:0050855 renal fibrosis ISO RGD:3555 D RGD:9068941 20200609 RGD PMID:29570433|REF_RGD_ID:14348960 11816833 RESP18 regulated endocrine specific protein 18 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:2305853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11816833 RESP18 regulated endocrine specific protein 18 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:2305853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11816833 RESP18 regulated endocrine specific protein 18 gene DOID:0111214 distal spinal muscular atrophy type 5 ISO RGD:2305853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Young adult-onset distal hereditary motor neuropathy PMID:28492532 11816833 RESP18 regulated endocrine specific protein 18 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:2305853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11816833 RESP18 regulated endocrine specific protein 18 gene DOID:10763 hypertension ISO RGD:3555 D RGD:9068941 20200609 RGD PMID:29570433|REF_RGD_ID:14348960 11816833 RESP18 regulated endocrine specific protein 18 gene DOID:1148 polydactyly ISO RGD:2305853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 11816833 RESP18 regulated endocrine specific protein 18 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:2305853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11816833 RESP18 regulated endocrine specific protein 18 gene DOID:630 genetic disease ISO RGD:2305853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816833 RESP18 regulated endocrine specific protein 18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2305853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11816843 ALDH16A1 aldehyde dehydrogenase 16 family member A1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1350465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11816843 ALDH16A1 aldehyde dehydrogenase 16 family member A1 gene DOID:0112127 HRPT-related hyperuricemia ISO RGD:1350465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23348497 11816843 ALDH16A1 aldehyde dehydrogenase 16 family member A1 gene DOID:13189 gout ISO RGD:1350465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983786 11816843 ALDH16A1 aldehyde dehydrogenase 16 family member A1 gene DOID:1920 hyperuricemia ISO RGD:1350465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23348497 11816843 ALDH16A1 aldehyde dehydrogenase 16 family member A1 gene DOID:630 genetic disease ISO RGD:1350465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816874 LOC100975568 olfactory receptor 52R1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1354346 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11816874 LOC100975568 olfactory receptor 52R1 gene DOID:630 genetic disease ISO RGD:1354346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0050685 small cell carcinoma ISO RGD:1348890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24658001|PMID:24658002|PMID:24658004|PMID:26343384 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0050902 medulloblastoma ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:26822237 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1348890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features PMID:17576681|PMID:18414213|PMID:21280140|PMID:24728327|PMID:25741868|PMID:26353884|PMID:26467025|PMID:27701467|PMID:28166811|PMID:28492532|PMID:9536098 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1348890 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES PMID:15756273|PMID:18414213|PMID:18437052|PMID:21280140|PMID:24728327|PMID:25741868|PMID:26353884|PMID:26467025|PMID:26744134|PMID:27701467|PMID:28492532|PMID:28875981|PMID:29758562|PMID:33680622 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0070046 Coffin-Siris syndrome 4 ISO RGD:1348890 D RGD:7240710 20180130 OMIM 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0070046 Coffin-Siris syndrome 4 ISO RGD:1348890 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 4 | ClinVar Annotator: match by term: SMARCA4-related BAFopathy PMID:10601012|PMID:15756273|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18437052|PMID:21280140|PMID:22426308|PMID:23637025|PMID:23929686|PMID:24658001|PMID:24658002|PMID:24728327|PMID:25058500|PMID:25169753|PMID:25231023|PMID:25275049|PMID:25326635|PMID:25741868|PMID:25918285|PMID:26353884|PMID:26467025|PMID:26580448|PMID:26744134|PMID:26901136|PMID:27701467|PMID:27930734|PMID:28135719|PMID:28202063|PMID:28492532|PMID:28873162|PMID:28875981|PMID:28973083|PMID:29095814|PMID:29641532|PMID:29758562|PMID:30029678|PMID:30111351|PMID:30973214|PMID:31097095|PMID:31470906|PMID:31530938|PMID:31785789|PMID:32376391|PMID:32686290|PMID:33680622|PMID:35047860|PMID:36474027|PMID:9536098 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1348890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0111254 glutaric acidemia I ISO RGD:1348890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0112018 non-syndromic X-linked intellectual disability 104 ISO RGD:1348890 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 PMID:25741868 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:10283 prostate cancer disease_progression ISO RGD:1348890 D RGD:9068941 20200609 RGD PMID:17075831|REF_RGD_ID:2302527 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:10283 prostate cancer no_association ISO RGD:1348890 D RGD:9068941 20200609 RGD absence of somatic mutations in the samples used PMID:12684665|REF_RGD_ID:2302528 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1059 intellectual disability ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency PMID:25741868|PMID:28492532 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:10907 microcephaly ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1115 sarcoma ISO RGD:1348890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26343384 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:12849 autistic disorder ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1324 lung cancer ISO RGD:1348890 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:13810 familial hypercholesterolemia ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:1998642|PMID:25741868|PMID:28492532 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1612 breast cancer ISO RGD:1348890 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1657 ventricular septal defect ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:25741868 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1826 epilepsy ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1882 atrial heart septal defect ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:28492532 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1925 Coffin-Siris syndrome ISO RGD:1348890 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome | ClinVar Annotator: match by term: Fifth digit syndrome PMID:15756273|PMID:18414213|PMID:18437052|PMID:21280140|PMID:24728327|PMID:25741868|PMID:26353884|PMID:26467025|PMID:26744134|PMID:27701467|PMID:28492532|PMID:28875981|PMID:29758562|PMID:33680622 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1969 cerebral palsy ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:28492532 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1348890 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:28973294 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:3413 alpha-mannosidosis ISO RGD:1348890 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1348890 D RGD:9068941 20200609 RGD PMID:15287030|REF_RGD_ID:2302526 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:3948 adrenocortical carcinoma ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:540 strabismus ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Strabismus PMID:25741868 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:5409 lung small cell carcinoma ISO RGD:1348890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26343384 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1348890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28671688 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:630 genetic disease ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10601012|PMID:22426308|PMID:23637025|PMID:23929686|PMID:25741868|PMID:27479843|PMID:27866340|PMID:28492532 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:674 cleft palate ISO RGD:1348890 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:22426308|PMID:25741868|PMID:28973083 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:6741 bilateral breast cancer ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: bilateral breast cancer PMID:28492532 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1348890 D RGD:9068941 20210625 RGD DNA:SNPs: :rs11879293, rs2072382 (human) PMID:24556940|REF_RGD_ID:127285650 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:769 neuroblastoma ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:25741868 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:8541 Sezary's disease ISO RGD:1348890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:8584 Burkitt lymphoma ISO RGD:1348890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9001988 Rhabdoid Tumor Predisposition Syndrome 2 ISO RGD:1348890 D RGD:7240710 20180130 OMIM 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9001988 Rhabdoid Tumor Predisposition Syndrome 2 ISO RGD:1348890 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2 PMID:15756273|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18437052|PMID:19621450|PMID:20137775|PMID:21280140|PMID:21566516|PMID:22424359|PMID:22426308|PMID:23775540|PMID:23929686|PMID:24375037|PMID:24658001|PMID:24658002|PMID:24658004|PMID:24728327|PMID:25058500|PMID:25060813|PMID:25169753|PMID:25231023|PMID:25275049|PMID:25640679|PMID:25741868|PMID:25918285|PMID:26230154|PMID:26343384|PMID:26353884|PMID:26467025|PMID:26552009|PMID:26564006|PMID:26580448|PMID:26744134|PMID:26822237|PMID:26901136|PMID:27701467|PMID:27930734|PMID:28135719|PMID:28202063|PMID:28492532|PMID:28608987|PMID:28873162|PMID:28875981|PMID:28973083|PMID:28990276|PMID:29102090|PMID:29271065|PMID:29641532|PMID:29706634|PMID:29758562|PMID:30029678|PMID:30093976|PMID:30111351|PMID:30662543|PMID:30973214|PMID:31097095|PMID:31190001|PMID:31278258|PMID:31419753|PMID:31470906|PMID:31530938|PMID:31785789|PMID:32376391|PMID:32686290|PMID:33680622|PMID:34970085|PMID:35047860|PMID:36474027|PMID:8269278|PMID:9536098 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1348890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:25741868|PMID:28492532 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:621728 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:heart left ventricle PMID:23702776|REF_RGD_ID:9586349 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1348890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27422367 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:621728 D RGD:9068941 20200609 RGD PMID:23853776|REF_RGD_ID:9586347 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:18414213|PMID:18437052|PMID:20137775|PMID:21280140|PMID:21566516|PMID:23929686|PMID:24375037|PMID:24658001|PMID:24658002|PMID:24658004|PMID:24728327|PMID:25058500|PMID:25060813|PMID:25231023|PMID:25275049|PMID:25741868|PMID:25886974|PMID:25918285|PMID:26353884|PMID:26467025|PMID:26564006|PMID:26580448|PMID:26822237|PMID:26901136|PMID:27701467|PMID:27866340|PMID:28166811|PMID:28202063|PMID:28492532|PMID:28873162|PMID:29102090|PMID:29271065|PMID:30111351|PMID:30973214|PMID:31097095|PMID:9536098 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348890 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:18414213|PMID:20137775|PMID:21280140|PMID:21566516|PMID:23929686|PMID:24375037|PMID:24658001|PMID:24658002|PMID:24658004|PMID:24728327|PMID:25058500|PMID:25060813|PMID:25231023|PMID:25275049|PMID:25741868|PMID:25886974|PMID:25918285|PMID:26353884|PMID:26467025|PMID:26564006|PMID:26580448|PMID:26822237|PMID:26901136|PMID:27701467|PMID:27854218|PMID:27866340|PMID:28202063|PMID:28492532|PMID:28873162|PMID:29102090|PMID:29271065|PMID:30111351|PMID:31097095|PMID:9536098 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348890 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:18414213|PMID:20137775|PMID:21280140|PMID:21566516|PMID:23775540|PMID:23929686|PMID:24375037|PMID:24658001|PMID:24658002|PMID:24658004|PMID:24728327|PMID:25058500|PMID:25060813|PMID:25231023|PMID:25275049|PMID:25741868|PMID:25886974|PMID:25918285|PMID:26353884|PMID:26467025|PMID:26564006|PMID:26580448|PMID:26822237|PMID:26901136|PMID:26942101|PMID:27701467|PMID:27854218|PMID:27866340|PMID:28202063|PMID:28492532|PMID:28873162|PMID:29102090|PMID:29271065|PMID:29446248|PMID:30111351|PMID:30973214|PMID:31097095|PMID:31954538|PMID:32575483|PMID:9536098 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348890 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11085541|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20137775|PMID:21280140|PMID:21566516|PMID:23775540|PMID:23929686|PMID:24375037|PMID:24658001|PMID:24658002|PMID:24658004|PMID:24728327|PMID:25058500|PMID:25060813|PMID:25169753|PMID:25231023|PMID:25275049|PMID:25741868|PMID:25886974|PMID:25918285|PMID:26343384|PMID:26353884|PMID:26467025|PMID:26552009|PMID:26556299|PMID:26564006|PMID:26580448|PMID:26822237|PMID:26901136|PMID:26942101|PMID:27701467|PMID:27854218|PMID:27866340|PMID:27930734|PMID:28135719|PMID:28202063|PMID:28492532|PMID:28608987|PMID:28873162|PMID:28990276|PMID:29102090|PMID:29271065|PMID:29446248|PMID:29641532|PMID:29706634|PMID:30029678|PMID:30093976|PMID:30111351|PMID:30662543|PMID:30973214|PMID:31097095|PMID:31130284|PMID:31190001|PMID:31278258|PMID:31419753|PMID:31470906|PMID:31785789|PMID:31954538|PMID:32376391|PMID:32575483|PMID:33680622|PMID:34970085|PMID:8269278|PMID:9536098 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348890 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11085541|PMID:15756273|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18437052|PMID:20137775|PMID:21280140|PMID:21566516|PMID:23775540|PMID:23929686|PMID:24375037|PMID:24658001|PMID:24658002|PMID:24658004|PMID:24728327|PMID:25058500|PMID:25060813|PMID:25169753|PMID:25231023|PMID:25275049|PMID:25741868|PMID:25886974|PMID:25918285|PMID:26343384|PMID:26353884|PMID:26467025|PMID:26552009|PMID:26556299|PMID:26564006|PMID:26580448|PMID:26744134|PMID:26822237|PMID:26901136|PMID:26942101|PMID:27701467|PMID:27866340|PMID:27930734|PMID:28135719|PMID:28202063|PMID:28492532|PMID:28608987|PMID:28873162|PMID:28875981|PMID:28990276|PMID:29102090|PMID:29271065|PMID:29446248|PMID:29641532|PMID:29706634|PMID:30029678|PMID:30093976|PMID:30111351|PMID:30662543|PMID:30973214|PMID:31097095|PMID:31130284|PMID:31190001|PMID:31278258|PMID:31419753|PMID:31470906|PMID:31785789|PMID:31954538|PMID:32376391|PMID:32575483|PMID:33680622|PMID:34970085|PMID:8269278|PMID:9536098 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348890 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11085541|PMID:15756273|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18437052|PMID:20137775|PMID:21280140|PMID:21566516|PMID:23775540|PMID:23929686|PMID:24375037|PMID:24658001|PMID:24658002|PMID:24658004|PMID:24728327|PMID:25058500|PMID:25060813|PMID:25169753|PMID:25231023|PMID:25275049|PMID:25741868|PMID:25886974|PMID:25918285|PMID:26343384|PMID:26353884|PMID:26467025|PMID:26552009|PMID:26556299|PMID:26564006|PMID:26580448|PMID:26744134|PMID:26822237|PMID:26901136|PMID:26942101|PMID:27701467|PMID:27866340|PMID:27930734|PMID:28135719|PMID:28202063|PMID:28492532|PMID:28608987|PMID:28873162|PMID:28875981|PMID:28990276|PMID:29102090|PMID:29271065|PMID:29446248|PMID:29641532|PMID:29706634|PMID:29758562|PMID:30029678|PMID:30093976|PMID:30111351|PMID:30662543|PMID:30973214|PMID:31097095|PMID:31130284|PMID:31190001|PMID:31278258|PMID:31419753|PMID:31470906|PMID:31785789|PMID:31954538|PMID:32376391|PMID:32575483|PMID:33680622|PMID:34970085|PMID:35047860|PMID:36474027|PMID:8269278|PMID:9536098 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9007920 Thoracic Neoplasms ISO RGD:1348890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26343384 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1348890 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9008797 Facial Asymmetry ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Facial asymmetry PMID:25741868 11816877 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9970 obesity ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868|PMID:28492532 11816933 MAF MAF bZIP transcription factor gene DOID:0080060 autosomal recessive spinocerebellar ataxia 12 ISO RGD:731331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12 PMID:24369382|PMID:25741868|PMID:26467025|PMID:27959697|PMID:28492532|PMID:29358611|PMID:32214227 11816933 MAF MAF bZIP transcription factor gene DOID:0080452 developmental and epileptic encephalopathy 28 ISO RGD:731331 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 28 PMID:25741868|PMID:26467025|PMID:28492532 11816933 MAF MAF bZIP transcription factor gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:731331 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 PMID:17576681|PMID:24369382|PMID:24456803|PMID:25411445|PMID:25741868|PMID:26467025|PMID:27959697|PMID:28492532|PMID:29358611|PMID:29390993|PMID:30356099|PMID:31130284|PMID:31780880|PMID:31957018|PMID:9536098 11816933 MAF MAF bZIP transcription factor gene DOID:0110256 cataract 21 multiple types ISO RGD:731331 D RGD:7240710 20180130 OMIM 11816933 MAF MAF bZIP transcription factor gene DOID:0110256 cataract 21 multiple types ISO RGD:731331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 21 multiple types PMID:11772997|PMID:12620964|PMID:16470690|PMID:17982426|PMID:22345400|PMID:24664492|PMID:24968223|PMID:25064449|PMID:25741868|PMID:25865493|PMID:26694549|PMID:28492532|PMID:30659945|PMID:34217267 11816933 MAF MAF bZIP transcription factor gene DOID:0111688 Ayme-Gripp syndrome ISO RGD:731331 D RGD:7240710 20180130 OMIM 11816933 MAF MAF bZIP transcription factor gene DOID:0111688 Ayme-Gripp syndrome ISO RGD:731331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ayme-Gripp syndrome PMID:12072800|PMID:17935251|PMID:25064449|PMID:25741868|PMID:25865493|PMID:28492532|PMID:30659945|PMID:34217267|PMID:8834052|PMID:8867660 11816933 MAF MAF bZIP transcription factor gene DOID:1059 intellectual disability ISO RGD:731331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11816933 MAF MAF bZIP transcription factor gene DOID:13374 fibrodysplasia ossificans progressiva ISO RGD:731331 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Progressive myositis ossificans PMID:25741868 11816933 MAF MAF bZIP transcription factor gene DOID:1826 epilepsy ISO RGD:731331 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11816933 MAF MAF bZIP transcription factor gene DOID:1852 intrahepatic cholestasis ISO RGD:731331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20146260 11816933 MAF MAF bZIP transcription factor gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:731331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:28492532|PMID:29358611 11816933 MAF MAF bZIP transcription factor gene DOID:5041 esophageal cancer ISO RGD:731331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophagus cancer PMID:25741868|PMID:28492532 11816933 MAF MAF bZIP transcription factor gene DOID:5419 schizophrenia ISO RGD:731331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11816933 MAF MAF bZIP transcription factor gene DOID:630 genetic disease ISO RGD:731331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532|PMID:31600839 11816933 MAF MAF bZIP transcription factor gene DOID:83 cataract ISO RGD:731331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:26694549 11816933 MAF MAF bZIP transcription factor gene DOID:9003799 Cataract Microcornea Syndrome ISO RGD:731331 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.R299S (c.895C>A), p.K320E (c.958A>G) (human) PMID:19182255|REF_RGD_ID:13204740 11816933 MAF MAF bZIP transcription factor gene DOID:9008086 Developmental Disabilities ISO RGD:731331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 11816933 MAF MAF bZIP transcription factor gene DOID:9008443 Colorectal Neoplasms ISO RGD:731331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 11816933 MAF MAF bZIP transcription factor gene DOID:9538 multiple myeloma ISO RGD:735352 D RGD:9068941 20220825 MouseDO OMIM:254500 11816940 FRMD7 FERM domain containing 7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11816940 FRMD7 FERM domain containing 7 gene DOID:0111790 congenital nystagmus 1 ISO RGD:1352948 D RGD:7240710 20180130 OMIM 11816940 FRMD7 FERM domain containing 7 gene DOID:0111790 congenital nystagmus 1 ISO RGD:1352948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nystagmus 1, congenital, X-linked PMID:16020310|PMID:17013395|PMID:17768376|PMID:17962394|PMID:18087240|PMID:19072571|PMID:21303855|PMID:21746984|PMID:23020937|PMID:25678693|PMID:25741868|PMID:25916882|PMID:27081518|PMID:28492532|PMID:30025138|PMID:30942644 11816940 FRMD7 FERM domain containing 7 gene DOID:12849 autistic disorder ISO RGD:1352948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11816940 FRMD7 FERM domain containing 7 gene DOID:630 genetic disease ISO RGD:1352948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26268155|PMID:28492532 11816940 FRMD7 FERM domain containing 7 gene DOID:8501 fundus dystrophy ISO RGD:1352948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 11816960 DNTT DNA nucleotidylexotransferase gene DOID:630 genetic disease ISO RGD:1312854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816960 DNTT DNA nucleotidylexotransferase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1312854 D RGD:9068941 20200609 RGD protein:increased activity:peripheral blood,bone marrow: PMID:7020399|REF_RGD_ID:8694149 11816977 RTF2 replication termination factor 2 gene DOID:630 genetic disease ISO RGD:1322335 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816995 POTED POTE ankyrin domain family member D gene DOID:10652 Alzheimer's disease ISO RGD:1353593 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 11816995 POTED POTE ankyrin domain family member D gene DOID:630 genetic disease ISO RGD:1353593 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11816995 POTED POTE ankyrin domain family member D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353593 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11816996 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:0050868 hepatocellular adenoma ameliorates ISO RGD:731489 D RGD:9068941 20220224 RGD PMID:26560698|REF_RGD_ID:11342977 11816996 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:10534 stomach cancer ameliorates ISO RGD:731488 D RGD:9068941 20220224 RGD PMID:23828905|REF_RGD_ID:151356998 11816996 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:731488 D RGD:9068941 20220224 RGD protein:increased activity:serum: PMID:28724746|REF_RGD_ID:151356966 11816996 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:13208 background diabetic retinopathy ISO RGD:731488 D RGD:9068941 20220224 RGD protein:increased activity:serum: PMID:28724746|REF_RGD_ID:151356966 11816996 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:1324 lung cancer exacerbates ISO RGD:731489 D RGD:9068941 20220224 RGD PMID:26300007|REF_RGD_ID:11535492 11816996 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:1612 breast cancer ISO RGD:731488 D RGD:9068941 20220217 RGD PMID:10490831|REF_RGD_ID:151356925 11816996 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:731488 D RGD:9068941 20220224 RGD PMID:23533274|PMID:28393206|REF_RGD_ID:151356965|REF_RGD_ID:151356978 11816996 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:731489 D RGD:9068941 20220224 RGD PMID:23533274|REF_RGD_ID:151356978 11816996 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:4467 clear cell renal cell carcinoma ameliorates ISO RGD:731488 D RGD:9068941 20220224 RGD PMID:23982215|REF_RGD_ID:151356974 11816996 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:731488 D RGD:9068941 20220224 RGD PMID:23982215|REF_RGD_ID:151356974 11816996 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:630 genetic disease ISO RGD:731488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11816996 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:731489 D RGD:9068941 20220224 RGD PMID:26560698|REF_RGD_ID:11342977 11816996 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9000371 influenza A exacerbates ISO RGD:731489 D RGD:9068941 20220224 RGD PMID:26241898|REF_RGD_ID:11055126 11816996 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11816996 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9001642 Intestinal Polyps ISO RGD:10166 D RGD:9068941 20220224 RGD PMID:22451924|REF_RGD_ID:151356977 11816996 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9002245 Intestinal Neoplasms ISO RGD:731489 D RGD:9068941 20220224 RGD PMID:23064365|REF_RGD_ID:151356997 11816996 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9002869 Schistosomiasis Mansoni exacerbates ISO RGD:731489 D RGD:9068941 20220224 RGD PMID:27487182|REF_RGD_ID:151356963 11816996 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9005172 Lung Neoplasms ISO RGD:731488 D RGD:7240710 20180130 OMIM 11816996 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620969 D RGD:9068941 20220224 RGD protein:increased activity:serum: PMID:28724746|REF_RGD_ID:151356966 11816996 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731489 D RGD:9068941 20220224 RGD protein:increased activity:serum: PMID:28724746|REF_RGD_ID:151356966 11816996 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9007102 Myocardial Ischemia ISO RGD:731488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11816996 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9007702 Carcinogenesis ISO RGD:731488 D RGD:9068941 20220217 RGD PMID:15287022|REF_RGD_ID:151356924 11816996 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9007702 Carcinogenesis ISO RGD:731489 D RGD:9068941 20220224 RGD PMID:23533274|REF_RGD_ID:151356978 11816996 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9009121 lung metastasis ameliorates ISO RGD:731488 D RGD:9068941 20220224 RGD associated with clear cell renal cell carcinoma PMID:23982215|REF_RGD_ID:151356974 11816996 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9256 colorectal cancer disease_progression ISO RGD:731488 D RGD:9068941 20220224 RGD PMID:23322277|PMID:29763718|REF_RGD_ID:151356994|REF_RGD_ID:151356995 11816996 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731489 D RGD:9068941 20220224 RGD protein:increased activity:serum: PMID:28724746|REF_RGD_ID:151356966 11816996 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9452 fatty liver disease ameliorates ISO RGD:731489 D RGD:9068941 20220224 RGD PMID:26560698|REF_RGD_ID:11342977 11817018 SBNO1 strawberry notch homolog 1 gene DOID:10283 prostate cancer ISO RGD:1320657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11817018 SBNO1 strawberry notch homolog 1 gene DOID:5419 schizophrenia ISO RGD:1320657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 11817018 SBNO1 strawberry notch homolog 1 gene DOID:630 genetic disease ISO RGD:1320657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817018 SBNO1 strawberry notch homolog 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1320657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 11817059 TSACC TSSK6 activating cochaperone gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1604756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11817059 TSACC TSSK6 activating cochaperone gene DOID:0111940 immunodeficiency 42 ISO RGD:1604756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11817059 TSACC TSSK6 activating cochaperone gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1604756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11817059 TSACC TSSK6 activating cochaperone gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1604756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11817059 TSACC TSSK6 activating cochaperone gene DOID:1540 parathyroid carcinoma ISO RGD:1604756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11817059 TSACC TSSK6 activating cochaperone gene DOID:5812 MHC class II deficiency ISO RGD:1604756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11817059 TSACC TSSK6 activating cochaperone gene DOID:630 genetic disease ISO RGD:1604756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817059 TSACC TSSK6 activating cochaperone gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11817078 PKP1 plakophilin 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1316687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11817078 PKP1 plakophilin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1316687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11817078 PKP1 plakophilin 1 gene DOID:2121 ectodermal dysplasia ISO RGD:1316687 D RGD:9068941 20200609 RGD PMID:9326952|REF_RGD_ID:1599084 11817078 PKP1 plakophilin 1 gene DOID:630 genetic disease ISO RGD:1316687 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11817078 PKP1 plakophilin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1316687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11817078 PKP1 plakophilin 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1316687 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11817078 PKP1 plakophilin 1 gene DOID:9006397 Ectodermal Dysplasia-Skin Fragility Syndrome ISO RGD:1316687 D RGD:7240710 20180130 OMIM 11817078 PKP1 plakophilin 1 gene DOID:9006397 Ectodermal Dysplasia-Skin Fragility Syndrome ISO RGD:1316687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mcgrath syndrome PMID:10951270|PMID:11994137|PMID:16781314|PMID:24073657|PMID:25741868|PMID:28492532|PMID:9326952 11817078 PKP1 plakophilin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11817098 DOLK dolichol kinase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11817098 DOLK dolichol kinase gene DOID:0080565 congenital disorder of glycosylation Im ISO RGD:1321943 D RGD:7240710 20190315 OMIM 11817098 DOLK dolichol kinase gene DOID:0080565 congenital disorder of glycosylation Im ISO RGD:1321943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CDG Im | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1M | ClinVar Annotator: match by term: DOLICHOL KINASE DEFICIENCY | ClinVar Annotator: match by term: DOLK-congenital disorder of glycosylation PMID:17273964|PMID:22242004|PMID:23806237|PMID:23890587|PMID:24033266|PMID:24144945|PMID:25188385|PMID:25741868|PMID:25819062|PMID:26257771|PMID:26633542|PMID:27212206|PMID:28074886|PMID:28492532|PMID:28816422|PMID:28818208|PMID:28820871|PMID:30653653|PMID:30775854|PMID:31983221|PMID:32250540|PMID:34956305 11817098 DOLK dolichol kinase gene DOID:12930 dilated cardiomyopathy ISO RGD:1321943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 11817098 DOLK dolichol kinase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1321943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 11817098 DOLK dolichol kinase gene DOID:630 genetic disease ISO RGD:1321943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11817112 NPR1 natriuretic peptide receptor 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:732882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11817112 NPR1 natriuretic peptide receptor 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11817112 NPR1 natriuretic peptide receptor 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11817112 NPR1 natriuretic peptide receptor 1 gene DOID:10763 hypertension ISO RGD:3195 D RGD:9068941 20200609 RGD DNA:repeat:promoter: (rat) PMID:12511524|REF_RGD_ID:628585 11817112 NPR1 natriuretic peptide receptor 1 gene DOID:10763 hypertension ISO RGD:732882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20881240 11817112 NPR1 natriuretic peptide receptor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:732882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11817112 NPR1 natriuretic peptide receptor 1 gene DOID:5199 ureteral obstruction ISO RGD:11007 D RGD:9068941 20200609 RGD PMID:19223006|REF_RGD_ID:7247722 11817112 NPR1 natriuretic peptide receptor 1 gene DOID:557 kidney disease ISO RGD:732882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20881240 11817112 NPR1 natriuretic peptide receptor 1 gene DOID:5812 MHC class II deficiency ISO RGD:732882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11817112 NPR1 natriuretic peptide receptor 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:732882 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.M341I (human) PMID:14646971|REF_RGD_ID:1580174 11817112 NPR1 natriuretic peptide receptor 1 gene DOID:6000 congestive heart failure ISO RGD:11007 D RGD:9068941 20200609 RGD associated with Hypertension PMID:9405681|REF_RGD_ID:737701 11817112 NPR1 natriuretic peptide receptor 1 gene DOID:6000 congestive heart failure ISO RGD:11007 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:17264312|REF_RGD_ID:7247730 11817112 NPR1 natriuretic peptide receptor 1 gene DOID:6000 congestive heart failure ISO RGD:732882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20881240 11817112 NPR1 natriuretic peptide receptor 1 gene DOID:630 genetic disease ISO RGD:732882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817112 NPR1 natriuretic peptide receptor 1 gene DOID:9000641 Pain ISO RGD:732882 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27687165 11817112 NPR1 natriuretic peptide receptor 1 gene DOID:9000784 Fibrosis ISO RGD:732882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20881240 11817112 NPR1 natriuretic peptide receptor 1 gene DOID:9003936 Cardiomegaly ISO RGD:11007 D RGD:9068941 20200609 RGD associated with Hypertension PMID:9405681|REF_RGD_ID:737701 11817112 NPR1 natriuretic peptide receptor 1 gene DOID:9003936 Cardiomegaly ISO RGD:732882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20881240 11817112 NPR1 natriuretic peptide receptor 1 gene DOID:9004080 Aortic Rupture ISO RGD:11007 D RGD:9068941 20200609 RGD associated with Hypertension PMID:9405681|REF_RGD_ID:737701 11817112 NPR1 natriuretic peptide receptor 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3195 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:16272201|REF_RGD_ID:1580154 11817112 NPR1 natriuretic peptide receptor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11817138 ZNF629 zinc finger protein 629 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1314773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11817138 ZNF629 zinc finger protein 629 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1314773 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 11817138 ZNF629 zinc finger protein 629 gene DOID:630 genetic disease ISO RGD:1314773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817150 ZNF586 zinc finger protein 586 gene DOID:630 genetic disease ISO RGD:1348673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817167 AKR1D1 aldo-keto reductase family 1 member D1 gene DOID:0050674 congenital bile acid synthesis defect ISO RGD:736637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect 11817167 AKR1D1 aldo-keto reductase family 1 member D1 gene DOID:0111069 congenital bile acid synthesis defect 2 ISO RGD:736637 D RGD:7240710 20180130 OMIM 11817167 AKR1D1 aldo-keto reductase family 1 member D1 gene DOID:0111069 congenital bile acid synthesis defect 2 ISO RGD:736637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect 2 PMID:12970144|PMID:15030995|PMID:16199547|PMID:19175828|PMID:20522910|PMID:21185810|PMID:23679950|PMID:25741868|PMID:28492532|PMID:8707100 11817167 AKR1D1 aldo-keto reductase family 1 member D1 gene DOID:2352 hemochromatosis ISO RGD:736637 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18624455 11817167 AKR1D1 aldo-keto reductase family 1 member D1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11817167 AKR1D1 aldo-keto reductase family 1 member D1 gene DOID:630 genetic disease ISO RGD:736637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11817189 CRIM1 cysteine rich transmembrane BMP regulator 1 gene DOID:630 genetic disease ISO RGD:1318641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817219 UBB ubiquitin B gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1344008 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:22994484 11817219 UBB ubiquitin B gene DOID:630 genetic disease ISO RGD:1344008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817228 BCL2L13 BCL2 like 13 gene DOID:0111996 immunodeficiency 51 ISO RGD:1315911 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11817228 BCL2L13 BCL2 like 13 gene DOID:630 genetic disease ISO RGD:1315911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817228 BCL2L13 BCL2 like 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11817228 BCL2L13 BCL2 like 13 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1315911 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11817239 LOC100988698 mitochondrial chaperone BCS1 gene DOID:0050677 Bjornstad syndrome ISO RGD:1347169 D RGD:7240710 20180130 OMIM 11817239 LOC100988698 mitochondrial chaperone BCS1 gene DOID:0050677 Bjornstad syndrome ISO RGD:1347169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bjornstad syndrome with mild mitochondrial complex III deficiency | ClinVar Annotator: match by term: Pili torti-deafness syndrome PMID:11528392|PMID:12215968|PMID:12547234|PMID:12910490|PMID:16199547|PMID:17314340|PMID:17403714|PMID:18386115|PMID:18771761|PMID:19162478|PMID:19389488|PMID:19508421|PMID:20518024|PMID:20727375|PMID:21274865|PMID:22277166|PMID:24033266|PMID:24172246|PMID:24236502|PMID:24704045|PMID:25741868|PMID:25895478|PMID:25914718|PMID:26467025|PMID:27959697|PMID:28105683|PMID:28322498|PMID:28492532|PMID:30582773|PMID:30634555|PMID:31435670|PMID:9545407 11817239 LOC100988698 mitochondrial chaperone BCS1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1347169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11817239 LOC100988698 mitochondrial chaperone BCS1 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1347169 D RGD:7240710 20180130 OMIM 11817239 LOC100988698 mitochondrial chaperone BCS1 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1347169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Decreased activity of mitochondrial complex III | ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 PMID:11528392|PMID:12215968|PMID:12547234|PMID:12910490|PMID:17314340|PMID:17403714|PMID:18386115|PMID:18771761|PMID:19162478|PMID:19389488|PMID:19508421|PMID:20472482|PMID:20518024|PMID:21274865|PMID:22277166|PMID:22277967|PMID:22310368|PMID:22991165|PMID:23892085|PMID:24033266|PMID:24172246|PMID:24655110|PMID:24704045|PMID:25741868|PMID:25895478|PMID:25914718|PMID:26467025|PMID:27959697|PMID:28128857|PMID:28322498|PMID:28427446|PMID:28492532|PMID:28496993|PMID:29090881|PMID:30582773|PMID:30634555|PMID:31316545|PMID:31435670|PMID:32313153|PMID:32581362|PMID:9545407 11817239 LOC100988698 mitochondrial chaperone BCS1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1347169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11817239 LOC100988698 mitochondrial chaperone BCS1 gene DOID:0111455 GRACILE syndrome ISO RGD:1347169 D RGD:7240710 20180130 OMIM 11817239 LOC100988698 mitochondrial chaperone BCS1 gene DOID:0111455 GRACILE syndrome ISO RGD:1347169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GRACILE syndrome PMID:11528392|PMID:12215968|PMID:12547234|PMID:12910490|PMID:16199547|PMID:17314340|PMID:17403714|PMID:18386115|PMID:18771761|PMID:19162478|PMID:19285991|PMID:19389488|PMID:19508421|PMID:20518024|PMID:21274865|PMID:22277166|PMID:22310368|PMID:23892085|PMID:24033266|PMID:24172246|PMID:24236502|PMID:24655110|PMID:24704045|PMID:25741868|PMID:25895478|PMID:25914718|PMID:25954003|PMID:26467025|PMID:26489029|PMID:26563427|PMID:27618451|PMID:27959697|PMID:28105683|PMID:28128857|PMID:28322498|PMID:28427446|PMID:28490743|PMID:28492532|PMID:28496993|PMID:29090881|PMID:30582773|PMID:30634555|PMID:31435670|PMID:33511646|PMID:9545407 11817239 LOC100988698 mitochondrial chaperone BCS1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1347169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11817239 LOC100988698 mitochondrial chaperone BCS1 gene DOID:1059 intellectual disability ISO RGD:1347169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:22277967|PMID:25741868|PMID:28492532|PMID:31316545|PMID:32581362 11817239 LOC100988698 mitochondrial chaperone BCS1 gene DOID:10907 microcephaly ISO RGD:1347169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:22277967|PMID:25741868|PMID:28492532|PMID:31316545|PMID:32581362 11817239 LOC100988698 mitochondrial chaperone BCS1 gene DOID:1826 epilepsy ISO RGD:1347169 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11817239 LOC100988698 mitochondrial chaperone BCS1 gene DOID:3652 Leigh disease ISO RGD:1347169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:12215968|PMID:12910490|PMID:17314340|PMID:17403714|PMID:18771761|PMID:19389488|PMID:19508421|PMID:20472482|PMID:20518024|PMID:22277166|PMID:22991165|PMID:24033266|PMID:24172246|PMID:25741868|PMID:25895478|PMID:25914718|PMID:26467025|PMID:28492532|PMID:30582773|PMID:9545407 11817239 LOC100988698 mitochondrial chaperone BCS1 gene DOID:3652 Leigh disease ISO RGD:1347169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:12215968|PMID:12910490|PMID:17314340|PMID:17403714|PMID:18771761|PMID:19162478|PMID:19389488|PMID:19508421|PMID:20472482|PMID:20518024|PMID:22277166|PMID:22991165|PMID:24033266|PMID:24172246|PMID:24704045|PMID:25741868|PMID:25895478|PMID:25914718|PMID:26467025|PMID:28492532|PMID:30582773|PMID:9545407 11817239 LOC100988698 mitochondrial chaperone BCS1 gene DOID:630 genetic disease ISO RGD:1347169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12215968|PMID:16199547|PMID:17314340|PMID:17403714|PMID:19162478|PMID:19508421|PMID:22277166|PMID:25741868|PMID:25895478|PMID:25954003|PMID:27618451|PMID:27959697|PMID:28490743|PMID:28492532|PMID:30582773|PMID:30634555|PMID:31435670 11817239 LOC100988698 mitochondrial chaperone BCS1 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1347169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:12215968|PMID:12910490|PMID:17314340|PMID:19162478|PMID:19389488|PMID:19508421|PMID:20518024|PMID:22277166|PMID:24033266|PMID:25741868|PMID:25895478|PMID:28492532 11817239 LOC100988698 mitochondrial chaperone BCS1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11817239 LOC100988698 mitochondrial chaperone BCS1 gene DOID:9007653 Multiple Abnormalities susceptibility ISO RGD:1347169 D RGD:9068941 20200609 RGD DNA:mutations: ; mitochondrial complex III deficiency, OMIM:124000 PMID:11528392|REF_RGD_ID:1600515 11817239 LOC100988698 mitochondrial chaperone BCS1 gene DOID:936 brain disease ISO RGD:1347169 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 11817272 ELL2 elongation factor for RNA polymerase II 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1319566 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11817272 ELL2 elongation factor for RNA polymerase II 2 gene DOID:0080600 COVID-19 ISO RGD:1319566 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11817272 ELL2 elongation factor for RNA polymerase II 2 gene DOID:630 genetic disease ISO RGD:1319566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817272 ELL2 elongation factor for RNA polymerase II 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11817272 ELL2 elongation factor for RNA polymerase II 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319566 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11817292 PSME1 proteasome activator subunit 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:733032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11817292 PSME1 proteasome activator subunit 1 gene DOID:305 carcinoma ISO RGD:733032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11817292 PSME1 proteasome activator subunit 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:733032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 11817292 PSME1 proteasome activator subunit 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:733032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11817292 PSME1 proteasome activator subunit 1 gene DOID:630 genetic disease ISO RGD:733032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817292 PSME1 proteasome activator subunit 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:733032 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11817292 PSME1 proteasome activator subunit 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11817292 PSME1 proteasome activator subunit 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:733032 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11817292 PSME1 proteasome activator subunit 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11817307 AP2A1 adaptor related protein complex 2 subunit alpha 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1314769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11817307 AP2A1 adaptor related protein complex 2 subunit alpha 1 gene DOID:630 genetic disease ISO RGD:1314769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817342 PIGZ phosphatidylinositol glycan anchor biosynthesis class Z gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1602097 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 11817342 PIGZ phosphatidylinositol glycan anchor biosynthesis class Z gene DOID:12849 autistic disorder ISO RGD:1602097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11817342 PIGZ phosphatidylinositol glycan anchor biosynthesis class Z gene DOID:5419 schizophrenia ISO RGD:1602097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11817342 PIGZ phosphatidylinositol glycan anchor biosynthesis class Z gene DOID:630 genetic disease ISO RGD:1602097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817348 NDUFA8 NADH:ubiquinone oxidoreductase subunit A8 gene DOID:630 genetic disease ISO RGD:1314815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817348 NDUFA8 NADH:ubiquinone oxidoreductase subunit A8 gene DOID:9000429 Nuclear Type Mitochondrial Complex I Deficiency 37 ISO RGD:1314815 D RGD:7240710 20210505 OMIM 11817348 NDUFA8 NADH:ubiquinone oxidoreductase subunit A8 gene DOID:9000429 Nuclear Type Mitochondrial Complex I Deficiency 37 ISO RGD:1314815 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 PMID:25741868|PMID:32385911|PMID:33153867 11817361 CRACR2B calcium release activated channel regulator 2B gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11817361 CRACR2B calcium release activated channel regulator 2B gene DOID:0080773 delta beta-thalassemia ISO RGD:1603869 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11817361 CRACR2B calcium release activated channel regulator 2B gene DOID:0111969 immunodeficiency 39 ISO RGD:1603869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11817361 CRACR2B calcium release activated channel regulator 2B gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11817361 CRACR2B calcium release activated channel regulator 2B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11817361 CRACR2B calcium release activated channel regulator 2B gene DOID:630 genetic disease ISO RGD:1603869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817361 CRACR2B calcium release activated channel regulator 2B gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1603869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11817397 NAV3 neuron navigator 3 gene DOID:12849 autistic disorder ISO RGD:1314915 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:35982159 11817397 NAV3 neuron navigator 3 gene DOID:2559 opiate dependence ISO RGD:1314915 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 11817397 NAV3 neuron navigator 3 gene DOID:4450 renal cell carcinoma ISO RGD:1314915 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 11817397 NAV3 neuron navigator 3 gene DOID:630 genetic disease ISO RGD:1314915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817453 ID1 inhibitor of DNA binding 1 gene DOID:13580 cholestasis ISO RGD:2858 D RGD:9068941 20200609 RGD protein:increased expression:liver, nucleus (rat) PMID:16628634|REF_RGD_ID:9686088 11817453 ID1 inhibitor of DNA binding 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:736819 D RGD:9068941 20200609 RGD protein:decreased expression:lung, wall of arteriole (human) PMID:20522807|REF_RGD_ID:9686087 11817453 ID1 inhibitor of DNA binding 1 gene DOID:14566 disease of cellular proliferation ISO RGD:736819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16966095 11817453 ID1 inhibitor of DNA binding 1 gene DOID:1686 glaucoma ISO RGD:736819 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (human) PMID:28990066|REF_RGD_ID:155630605 11817453 ID1 inhibitor of DNA binding 1 gene DOID:630 genetic disease ISO RGD:736819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817453 ID1 inhibitor of DNA binding 1 gene DOID:6432 pulmonary hypertension ISO RGD:2858 D RGD:9068941 20200609 RGD PMID:20522807|REF_RGD_ID:9686087 11817453 ID1 inhibitor of DNA binding 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2858 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord (rat) PMID:11746449|REF_RGD_ID:9686138 11817453 ID1 inhibitor of DNA binding 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736819 D RGD:9068941 20200806 CTD CTD Direct Evidence: therapeutic PMID:24910342 11817453 ID1 inhibitor of DNA binding 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21283680 11817453 ID1 inhibitor of DNA binding 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 11817453 ID1 inhibitor of DNA binding 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:736819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11817453 ID1 inhibitor of DNA binding 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 11817459 KRT72 keratin 72 gene DOID:630 genetic disease ISO RGD:1605869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817472 EHD1 EH domain containing 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1319124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11817472 EHD1 EH domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1319124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11817472 EHD1 EH domain containing 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1319124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11817472 EHD1 EH domain containing 1 gene DOID:2746 glycogen storage disease V ISO RGD:1319124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11817472 EHD1 EH domain containing 1 gene DOID:3070 high grade glioma ISO RGD:1319124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11817472 EHD1 EH domain containing 1 gene DOID:630 genetic disease ISO RGD:1319124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817472 EHD1 EH domain containing 1 gene DOID:9970 obesity ISO RGD:1309017 D RGD:9068941 20200609 RGD PMID:21365757|REF_RGD_ID:8661255 11817508 TMEM272 transmembrane protein 272 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:4110051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11817508 TMEM272 transmembrane protein 272 gene DOID:630 genetic disease ISO RGD:4110051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817508 TMEM272 transmembrane protein 272 gene DOID:893 Wilson disease ISO RGD:4110051 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:25741868 11817517 GAPT GRB2 binding adaptor protein, transmembrane gene DOID:630 genetic disease ISO RGD:1604723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817517 GAPT GRB2 binding adaptor protein, transmembrane gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11817522 LOC100970303 keratin, type II cytoskeletal 73 gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1605236 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23349890 11817522 LOC100970303 keratin, type II cytoskeletal 73 gene DOID:630 genetic disease ISO RGD:1605236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817537 TMSB15A thymosin beta 15A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11817537 TMSB15A thymosin beta 15A gene DOID:12849 autistic disorder ISO RGD:1602496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11817556 TSPYL5 TSPY like 5 gene DOID:630 genetic disease ISO RGD:1322624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817568 MFSD2A MFSD2 lysolipid transporter A, lysophospholipid gene DOID:0070277 primary autosomal recessive microcephaly 15 ISO RGD:1606200 D RGD:7240710 20180130 OMIM 11817568 MFSD2A MFSD2 lysolipid transporter A, lysophospholipid gene DOID:0070277 primary autosomal recessive microcephaly 15 ISO RGD:1606200 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microcephaly 15, primary, autosomal recessive PMID:25741868|PMID:26005865|PMID:26005868|PMID:28492532|PMID:30043326|PMID:32572202 11817568 MFSD2A MFSD2 lysolipid transporter A, lysophospholipid gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11817568 MFSD2A MFSD2 lysolipid transporter A, lysophospholipid gene DOID:1059 intellectual disability ISO RGD:1606200 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26005865 11817568 MFSD2A MFSD2 lysolipid transporter A, lysophospholipid gene DOID:10907 microcephaly ISO RGD:1606200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11817568 MFSD2A MFSD2 lysolipid transporter A, lysophospholipid gene DOID:11383 cryptorchidism ISO RGD:1606200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryptorchidism 11817568 MFSD2A MFSD2 lysolipid transporter A, lysophospholipid gene DOID:630 genetic disease ISO RGD:1606200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 11817568 MFSD2A MFSD2 lysolipid transporter A, lysophospholipid gene DOID:684 hepatocellular carcinoma ISO RGD:1606200 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11817568 MFSD2A MFSD2 lysolipid transporter A, lysophospholipid gene DOID:92 speech disorder ISO RGD:1606200 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26005865 11817586 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:732554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11817586 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:732554 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11817586 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0080102 congenital fiber-type disproportion ISO RGD:732554 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:14972325|PMID:16503651|PMID:17698786|PMID:25617006|PMID:25741868|PMID:28492532|PMID:29480215|PMID:33250842 11817586 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0080718 GNE myopathy ISO RGD:732554 D RGD:7240710 20180130 OMIM 11817586 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0080718 GNE myopathy ISO RGD:732554 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GNE myopathy | ClinVar Annotator: match by term: Inclusion body myopathy 2 | ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing PMID:10330343|PMID:10356312|PMID:11326336|PMID:11528398|PMID:11916006|PMID:12177386|PMID:12325084|PMID:12409274|PMID:12473753|PMID:12473769|PMID:12473780|PMID:12497639|PMID:12743242|PMID:12811782|PMID:12913203|PMID:14678807|PMID:14707127|PMID:14733962|PMID:14733963|PMID:14972325|PMID:15136692|PMID:15146476|PMID:15147877|PMID:15330759|PMID:15670773|PMID:15793292|PMID:15834044|PMID:15987957|PMID:16112887|PMID:16199547|PMID:16372135|PMID:16503389|PMID:16503651|PMID:16810679|PMID:17098358|PMID:17164266|PMID:17261181|PMID:17576681|PMID:17698786|PMID:17704511|PMID:17706199|PMID:17718674|PMID:18383535|PMID:18555875|PMID:19078806|PMID:19596068|PMID:19841673|PMID:19917666|PMID:20030229|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301343|PMID:20301439|PMID:20346669|PMID:21131200|PMID:21294420|PMID:21307865|PMID:21436238|PMID:21517694|PMID:21708040|PMID:21873062|PMID:21910480|PMID:22196754|PMID:22231866|PMID:22322304|PMID:22343627|PMID:22507750|PMID:22855677|PMID:22883483|PMID:23127962|PMID:23278550|PMID:23437777|PMID:23496965|PMID:23549799|PMID:23558691|PMID:23806237|PMID:24005727|PMID:24027297|PMID:2402797|PMID:24033266|PMID:24136589|PMID:24474513|PMID:24695763|PMID:24707269|PMID:24737350|PMID:2473753|PMID:24796702|PMID:25046369|PMID:25061177|PMID:25123033|PMID:25182749|PMID:25257349|PMID:25303967|PMID:25422667|PMID:25590979|PMID:25617006|PMID:25640679|PMID:25741868|PMID:25966635|PMID:25978849|PMID:25986339|PMID:26053703|PMID:26161358|PMID:26231298|PMID:26467025|PMID:26627873|PMID:26968811|PMID:26980148|PMID:27363342|PMID:27457812|PMID:27479822|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:27966821|PMID:2808337|PMID:28099567|PMID:28320138|PMID:28403181|PMID:28492532|PMID:28641925|PMID:28717665|PMID:28895049|PMID:29305133|PMID:29307446|PMID:29406958|PMID:29480215|PMID:29941673|PMID:29997562|PMID:30112071|PMID:30160005|PMID:30390020|PMID:30467490|PMID:30842975|PMID:30990900|PMID:31064749|PMID:31167812|PMID:31286697|PMID:32053088|PMID:32505938|PMID:32935436|PMID:33031330|PMID:33214394|PMID:33250842|PMID:5182749|PMID:9536098 11817586 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0080942 anauxetic dysplasia ISO RGD:732554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11817586 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:732554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11817586 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:732554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11817586 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:1588 thrombocytopenia ISO RGD:732554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:24796702|PMID:25741868|PMID:26980148|PMID:28320138|PMID:28492532|PMID:31064749 11817586 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:1826 epilepsy ISO RGD:732554 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11817586 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:3429 inclusion body myositis ISO RGD:732554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inclusion body myositis PMID:25741868 11817586 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:3659 sialuria ISO RGD:732554 D RGD:7240710 20180130 OMIM 11817586 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:3659 sialuria ISO RGD:732554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria PMID:10330343|PMID:10356312|PMID:11326336|PMID:11528398|PMID:12325084|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:14707127|PMID:14972325|PMID:15136692|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16503651|PMID:16810679|PMID:18555875|PMID:19917666|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301439|PMID:21294420|PMID:21436238|PMID:21708040|PMID:21873062|PMID:22196754|PMID:22322304|PMID:22507750|PMID:23278550|PMID:23437777|PMID:23496965|PMID:23549799|PMID:23806237|PMID:24005727|PMID:24027297|PMID:24033266|PMID:2443758|PMID:24695763|PMID:24707269|PMID:24796702|PMID:25002140|PMID:25123033|PMID:25182749|PMID:25617006|PMID:25741868|PMID:26467025|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:2808337|PMID:28320138|PMID:28492532|PMID:28641925|PMID:28717665|PMID:29480215|PMID:30842975|PMID:30990900|PMID:33250842|PMID:8439453 11817586 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:3659 sialuria ISO RGD:732554 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria | ClinVar Annotator: match by term: Sialuria, Finnish type PMID:10330343|PMID:11326336|PMID:11528398|PMID:12325084|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:14707127|PMID:14972325|PMID:15136692|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16503651|PMID:16810679|PMID:17576681|PMID:18555875|PMID:19917666|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301439|PMID:21294420|PMID:21708040|PMID:21873062|PMID:22196754|PMID:22322304|PMID:23278550|PMID:23437777|PMID:23496965|PMID:23806237|PMID:24005727|PMID:24027297|PMID:24033266|PMID:2443758|PMID:24695763|PMID:24707269|PMID:24796702|PMID:25002140|PMID:25123033|PMID:25182749|PMID:25617006|PMID:25741868|PMID:26467025|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:2808337|PMID:28320138|PMID:28492532|PMID:28641925|PMID:28717665|PMID:29480215|PMID:30842975|PMID:30990900|PMID:33250842|PMID:8439453|PMID:9536098 11817586 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:3659 sialuria ISO RGD:732554 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria | ClinVar Annotator: match by term: Sialuria, Finnish type PMID:10330343|PMID:11326336|PMID:11528398|PMID:12325084|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:14707127|PMID:14972325|PMID:15136692|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16503651|PMID:16810679|PMID:17576681|PMID:18555875|PMID:19917666|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301343|PMID:20301439|PMID:21294420|PMID:21708040|PMID:21873062|PMID:22196754|PMID:22322304|PMID:23278550|PMID:23437777|PMID:23496965|PMID:23806237|PMID:24005727|PMID:24027297|PMID:24033266|PMID:2443758|PMID:24695763|PMID:24707269|PMID:24796702|PMID:25002140|PMID:25123033|PMID:25182749|PMID:25617006|PMID:25741868|PMID:26467025|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:2808337|PMID:28320138|PMID:28492532|PMID:28641925|PMID:28717665|PMID:29480215|PMID:30842975|PMID:30990900|PMID:33250842|PMID:8439453|PMID:9536098 11817586 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:3659 sialuria ISO RGD:732554 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria PMID:10330343|PMID:11326336|PMID:11528398|PMID:12325084|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:14707127|PMID:14972325|PMID:15136692|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16503651|PMID:16810679|PMID:17576681|PMID:18555875|PMID:19917666|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301343|PMID:20301439|PMID:21294420|PMID:21708040|PMID:21873062|PMID:22196754|PMID:22322304|PMID:23278550|PMID:23437777|PMID:23496965|PMID:23806237|PMID:24005727|PMID:24027297|PMID:24033266|PMID:2443758|PMID:24695763|PMID:24707269|PMID:24796702|PMID:25123033|PMID:25182749|PMID:25617006|PMID:25741868|PMID:26467025|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:2808337|PMID:28320138|PMID:28492532|PMID:28641925|PMID:28717665|PMID:29480215|PMID:30842975|PMID:30990900|PMID:33250842|PMID:8439453|PMID:9536098 11817586 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:3659 sialuria ISO RGD:732554 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Sialuria PMID:10330343|PMID:10356312|PMID:11326336|PMID:11528398|PMID:12325084|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:14707127|PMID:14972325|PMID:15136692|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16503651|PMID:16810679|PMID:17576681|PMID:18555875|PMID:19917666|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301343|PMID:20301439|PMID:21294420|PMID:21436238|PMID:21708040|PMID:21873062|PMID:22196754|PMID:22322304|PMID:22507750|PMID:23278550|PMID:23437777|PMID:23496965|PMID:23806237|PMID:24005727|PMID:24027297|PMID:24033266|PMID:2443758|PMID:24695763|PMID:24707269|PMID:24796702|PMID:25123033|PMID:25182749|PMID:25590979|PMID:25617006|PMID:25741868|PMID:26467025|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:2808337|PMID:28320138|PMID:28492532|PMID:28641925|PMID:28717665|PMID:29480215|PMID:30842975|PMID:30990900|PMID:33250842|PMID:8439453|PMID:9536098 11817586 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:630 genetic disease ISO RGD:732554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10330343|PMID:11326336|PMID:17576681|PMID:19917666|PMID:20301343|PMID:2443758|PMID:28492532|PMID:9536098 11817586 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:9001727 French Type Sialuria ISO RGD:732554 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sialuria, French type PMID:11528398|PMID:12497639|PMID:17576681|PMID:20175955|PMID:21708040|PMID:24005727|PMID:25182749|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 11817586 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:732554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11817586 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:9562 primary ciliary dyskinesia ISO RGD:732554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11817586 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:9870 galactosemia ISO RGD:732554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11817608 POLR2K RNA polymerase II, I and III subunit K gene DOID:0050144 Kartagener syndrome ISO RGD:1352672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:24055112 11817608 POLR2K RNA polymerase II, I and III subunit K gene DOID:0110607 primary ciliary dyskinesia 28 ISO RGD:1352672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 28 PMID:24055112 11817608 POLR2K RNA polymerase II, I and III subunit K gene DOID:0111590 Cohen syndrome ISO RGD:1352672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 11817608 POLR2K RNA polymerase II, I and III subunit K gene DOID:630 genetic disease ISO RGD:1352672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817616 LOC100968631 olfactory receptor 8K3 gene DOID:10283 prostate cancer ISO RGD:1342730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11817616 LOC100968631 olfactory receptor 8K3 gene DOID:1059 intellectual disability ISO RGD:1342730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11817616 LOC100968631 olfactory receptor 8K3 gene DOID:630 genetic disease ISO RGD:1342730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817617 FBXO3 F-box protein 3 gene DOID:1059 intellectual disability ISO RGD:1314921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11817617 FBXO3 F-box protein 3 gene DOID:630 genetic disease ISO RGD:1314921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817647 PALMD palmdelphin gene DOID:630 genetic disease ISO RGD:1313763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817647 PALMD palmdelphin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313763 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11817659 ACAP2 ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 gene DOID:630 genetic disease ISO RGD:1347120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817701 NMS neuromedin S gene DOID:630 genetic disease ISO RGD:1604755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0060538 purpura fulminans ISO RGD:737321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18376272 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0060903 thrombosis ISO RGD:737321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11132655|PMID:18376272|PMID:8967151|PMID:9164807 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0060903 thrombosis treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:8073406|REF_RGD_ID:11250413 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:737321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:28492532 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0111220 centronuclear myopathy 2 ISO RGD:737321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:28492532 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0111902 thrombophilia due to activated protein C resistance ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:25196808|REF_RGD_ID:11099994 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency ISO RGD:737321 D RGD:7240710 20180130 OMIM 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency ISO RGD:737321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal recessive PMID:10669160|PMID:10805275|PMID:10942114|PMID:11336399|PMID:1301954|PMID:1301959|PMID:1347608|PMID:1347706|PMID:1348046|PMID:14642106|PMID:1464619|PMID:1498334|PMID:1511988|PMID:1511989|PMID:1593215|PMID:1678832|PMID:17152060|PMID:17649706|PMID:1771629|PMID:18573519|PMID:1868249|PMID:18954896|PMID:19535131|PMID:20815936|PMID:21621249|PMID:21744130|PMID:21901152|PMID:22627591|PMID:24051141|PMID:24103874|PMID:24162787|PMID:24782131|PMID:24796542|PMID:24911457|PMID:25393254|PMID:25637381|PMID:25648792|PMID:25741868|PMID:25748729|PMID:2602169|PMID:27172833|PMID:27517348|PMID:28111891|PMID:28492532|PMID:28607330|PMID:31064749|PMID:31254973|PMID:3185623|PMID:31980526|PMID:34355501|PMID:7482420|PMID:7605880|PMID:7670104|PMID:7740502|PMID:7792728|PMID:7795150|PMID:8128429|PMID:8136274|PMID:8165644|PMID:8324221|PMID:8446940|PMID:8477066|PMID:8499565|PMID:8499568|PMID:8505327|PMID:8807339|PMID:8845458|PMID:8883262|PMID:9798967 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:737321 D RGD:7240710 20180613 OMIM 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:737321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:10669160|PMID:10805275|PMID:10942114|PMID:11336399|PMID:11380450|PMID:1301954|PMID:1301959|PMID:1347608|PMID:14642106|PMID:1464619|PMID:1469096|PMID:1498334|PMID:1511988|PMID:1511989|PMID:1593215|PMID:16199547|PMID:16867987|PMID:17152060|PMID:17576681|PMID:17635713|PMID:17649706|PMID:1771629|PMID:18573519|PMID:1868249|PMID:18954896|PMID:19535131|PMID:20815936|PMID:21621249|PMID:21744130|PMID:21901152|PMID:22353194|PMID:22425321|PMID:22545135|PMID:22576310|PMID:22627591|PMID:22817391|PMID:22944127|PMID:22951146|PMID:23174622|PMID:23332921|PMID:23389250|PMID:24028705|PMID:24051141|PMID:24103874|PMID:24122877|PMID:24162787|PMID:24300144|PMID:2437584|PMID:24782131|PMID:24911457|PMID:25039884|PMID:25393254|PMID:25525159|PMID:25533856|PMID:25637381|PMID:25648792|PMID:25712501|PMID:25741868|PMID:25748729|PMID:2602169|PMID:26250584|PMID:27081530|PMID:27172833|PMID:27517348|PMID:2783855|PMID:27838551|PMID:27995882|PMID:28111891|PMID:28174134|PMID:28468828|PMID:28492532|PMID:28607330|PMID:29356699|PMID:29536478|PMID:2991887|PMID:30439769|PMID:30632992|PMID:31064749|PMID:31254973|PMID:3185623|PMID:31980526|PMID:32717757|PMID:34355501|PMID:6589623|PMID:7482420|PMID:7605880|PMID:7670104|PMID:7740502|PMID:7792728|PMID:7795150|PMID:7831652|PMID:7841324|PMID:7865674|PMID:7881411|PMID:7894031|PMID:7913773|PMID:7951255|PMID:8093743|PMID:8128429|PMID:8136274|PMID:8165644|PMID:8218861|PMID:8292730|PMID:8324221|PMID:8400292|PMID:8446940|PMID:8462980|PMID:8477066|PMID:8499565|PMID:8499568|PMID:8505327|PMID:8639775|PMID:8704244|PMID:8807339|PMID:8845458|PMID:8883262|PMID:8972002|PMID:9536098|PMID:9553065|PMID:9683579|PMID:9798967|PMID:9840027 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:10159 osteonecrosis ISO RGD:737321 D RGD:9068941 20200625 RGD associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human) PMID:16547717|PMID:16677567|REF_RGD_ID:30309948|REF_RGD_ID:30309951 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:10591 pre-eclampsia ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:9065198|REF_RGD_ID:11564336 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:10763 hypertension ISO RGD:737321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:10936861|REF_RGD_ID:11100014 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:11247 disseminated intravascular coagulation ISO RGD:11161 D RGD:9068941 20200609 RGD PMID:9788960|REF_RGD_ID:11099993 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:11247 disseminated intravascular coagulation ISO RGD:737321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18376272 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:11247 disseminated intravascular coagulation treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:10936861|REF_RGD_ID:11100014 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:1247 blood coagulation disease ISO RGD:11161 D RGD:9068941 20200609 RGD PMID:19333141|REF_RGD_ID:11100017 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:14115 toxic shock syndrome ISO RGD:11161 D RGD:9068941 20200609 RGD PMID:19320827|REF_RGD_ID:11100015 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:14115 toxic shock syndrome treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:21850534|REF_RGD_ID:11100041 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:1969 cerebral palsy ISO RGD:737321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:1347706|PMID:24796542|PMID:25741868|PMID:31064749 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:2450 central retinal vein occlusion treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:20688738|REF_RGD_ID:11100028 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:2452 thrombophilia ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:7881411|REF_RGD_ID:1581278 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:2452 thrombophilia ISO RGD:737321 D RGD:9068941 20200609 RGD DNA:nonsense mutation, missense mutation:cds:p.R306X, p.W402C (human) PMID:2437584|REF_RGD_ID:1578514 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:2452 thrombophilia ISO RGD:737321 D RGD:9068941 20200609 RGD associated with Infertility, Female PMID:24189967|REF_RGD_ID:11099991 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:2841 asthma treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:26381519|REF_RGD_ID:11099992 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:2988 antiphospholipid syndrome ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:25196808|REF_RGD_ID:11099994 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:3021 acute kidney failure treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:19092124|REF_RGD_ID:11250410 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:11161 D RGD:9068941 20200609 RGD PMID:24159062|REF_RGD_ID:11100027 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:3526 cerebral infarction ISO RGD:737321 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:33761690 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:3756 protein C deficiency ISO RGD:737321 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.A259T (8490G>A) (human) PMID:11434940|REF_RGD_ID:11099984 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:3756 protein C deficiency ISO RGD:737321 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.R87H (3203G>A) (human) PMID:8845458|REF_RGD_ID:11099985 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:3756 protein C deficiency ISO RGD:737321 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L223F, p.I403M (human) PMID:8128429|REF_RGD_ID:1578392 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:3756 protein C deficiency ISO RGD:737321 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14707701|PMID:18376272|PMID:21445774|PMID:33761690 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:5844 myocardial infarction ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:10936861|REF_RGD_ID:11100014 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:630 genetic disease ISO RGD:737321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18954896|PMID:21621249|PMID:25712501|PMID:25741868|PMID:27081530|PMID:28111891|PMID:28492532|PMID:8218861 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9002138 Spinal Cord Reperfusion Injury treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:10903607|REF_RGD_ID:11100044 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9002159 Liver Reperfusion Injury ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:12605111|REF_RGD_ID:11100021 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:18507760|REF_RGD_ID:11100046 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9002564 Arteritis ISO RGD:737321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17139375 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9002910 Hearing Loss, Noise-Induced treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:25108045|REF_RGD_ID:11100045 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9003121 Thromboembolism ISO RGD:737321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thromboembolism PMID:1868249|PMID:22627591|PMID:25741868|PMID:28492532|PMID:31064749|PMID:8093743 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9003505 Venous Thromboembolism ISO RGD:737321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21445774|PMID:9149031 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9003505 Venous Thromboembolism ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:11434940|PMID:24162787|REF_RGD_ID:11099984|REF_RGD_ID:11099988 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9003871 Venous Thrombosis ISO RGD:737321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:17152060|PMID:1868249|PMID:25741868|PMID:28492532|PMID:31064749|PMID:31254973|PMID:32717757|PMID:34355501|PMID:7482420|PMID:8128429|PMID:8499565|PMID:8845458 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9004484 Sepsis ISO RGD:737321 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11820775|PMID:17556722 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9004484 Sepsis disease_progression ISO RGD:3411 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver, plasma PMID:15241104|REF_RGD_ID:11250412 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9004484 Sepsis treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:22940033|REF_RGD_ID:11100029 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9004610 Acute Lung Injury treatment ISO RGD:737321 D RGD:9068941 20200609 RGD associated with Intestinal Reperfusion Injury PMID:18367148|REF_RGD_ID:11250405 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9004610 Acute Lung Injury treatment ISO RGD:737321 D RGD:9068941 20200609 RGD associated with Pseudomonas Infections PMID:16553944|REF_RGD_ID:11100043 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9004649 Heat Stroke treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:16715032|REF_RGD_ID:11250411 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9005930 Endotoxemia treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:18205901|PMID:23170801|REF_RGD_ID:11100030|REF_RGD_ID:11100034 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9006363 Congenital Thrombotic Disease, due to Protein C Deficiency ISO RGD:737321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Reduced protein C activity PMID:10805275|PMID:10942114|PMID:1301954|PMID:1301959|PMID:1511988|PMID:1511989|PMID:17152060|PMID:18573519|PMID:1868249|PMID:18954896|PMID:21621249|PMID:22545135|PMID:22817391|PMID:22944127|PMID:23332921|PMID:23389250|PMID:24028705|PMID:24162787|PMID:25637381|PMID:25741868|PMID:2602169|PMID:28111891|PMID:28492532|PMID:31064749|PMID:31254973|PMID:3185623|PMID:31980526|PMID:32717757|PMID:34355501|PMID:6589623|PMID:7482420|PMID:7605880|PMID:7670104|PMID:7792728|PMID:8128429|PMID:8165644|PMID:8292730|PMID:8462980|PMID:8499565|PMID:8704244|PMID:8807339|PMID:9798967 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:19782612|REF_RGD_ID:11100035 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9007456 Female Infertility ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:24189967|REF_RGD_ID:11099991 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:19680809|REF_RGD_ID:11100040 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:15187522|REF_RGD_ID:11250409 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9477 pulmonary embolism ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:10936861|REF_RGD_ID:11100014 11817748 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9667 placental abruption susceptibility ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:9855597|REF_RGD_ID:11564329 11817775 PTCD1 pentatricopeptide repeat domain 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11817775 PTCD1 pentatricopeptide repeat domain 1 gene DOID:630 genetic disease ISO RGD:1322951 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817775 PTCD1 pentatricopeptide repeat domain 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1322951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:20818383|PMID:25741868 11817792 PATE1 prostate and testis expressed 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1606693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11817792 PATE1 prostate and testis expressed 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1606693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11817792 PATE1 prostate and testis expressed 1 gene DOID:5419 schizophrenia ISO RGD:1606693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11817792 PATE1 prostate and testis expressed 1 gene DOID:630 genetic disease ISO RGD:1606693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817792 PATE1 prostate and testis expressed 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11817792 PATE1 prostate and testis expressed 1 gene DOID:9007661 Dwarfism ISO RGD:1606693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11817809 HYLS1 HYLS1 centriolar and ciliogenesis associated gene DOID:0050779 hydrolethalus syndrome ISO RGD:1606679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrolethalus syndrome PMID:15843405|PMID:18648327|PMID:19400947|PMID:19656802|PMID:25741868|PMID:28492532 11817809 HYLS1 HYLS1 centriolar and ciliogenesis associated gene DOID:0060668 anencephaly ISO RGD:1606679 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Anencephaly PMID:25741868|PMID:27055666|PMID:31680349 11817809 HYLS1 HYLS1 centriolar and ciliogenesis associated gene DOID:0110877 holoprosencephaly 11 ISO RGD:1606679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11817809 HYLS1 HYLS1 centriolar and ciliogenesis associated gene DOID:0111355 hydrolethalus syndrome 1 ISO RGD:1606679 D RGD:7240710 20180130 OMIM 11817809 HYLS1 HYLS1 centriolar and ciliogenesis associated gene DOID:0111355 hydrolethalus syndrome 1 ISO RGD:1606679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrolethalus syndrome 1 PMID:15843405|PMID:18648327|PMID:19400947|PMID:19656802|PMID:25741868|PMID:28492532 11817809 HYLS1 HYLS1 centriolar and ciliogenesis associated gene DOID:0111723 Jacobsen Syndrome ISO RGD:1606679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11817809 HYLS1 HYLS1 centriolar and ciliogenesis associated gene DOID:2785 Dandy-Walker syndrome ISO RGD:1606679 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dandy-Walker malformation PMID:25741868|PMID:28492532|PMID:30697592|PMID:31474318 11817809 HYLS1 HYLS1 centriolar and ciliogenesis associated gene DOID:5419 schizophrenia ISO RGD:1606679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11817809 HYLS1 HYLS1 centriolar and ciliogenesis associated gene DOID:630 genetic disease ISO RGD:1606679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11817809 HYLS1 HYLS1 centriolar and ciliogenesis associated gene DOID:9000355 Neurodevelopmental Disorder with Microcephaly and Gray Sclerae ISO RGD:1606679 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE PMID:25741868|PMID:27055666|PMID:28454995|PMID:28492532|PMID:30697592|PMID:31444731|PMID:31474318|PMID:34415064 11817809 HYLS1 HYLS1 centriolar and ciliogenesis associated gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11817809 HYLS1 HYLS1 centriolar and ciliogenesis associated gene DOID:9007661 Dwarfism ISO RGD:1606679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11817821 HSPA14 heat shock protein family A (Hsp70) member 14 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:38549391 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11817821 HSPA14 heat shock protein family A (Hsp70) member 14 gene DOID:403 mouth disease ISO RGD:38549391 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 11817821 HSPA14 heat shock protein family A (Hsp70) member 14 gene DOID:630 genetic disease ISO RGD:38549391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817842 METRN meteorin, glial cell differentiation regulator gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1353878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 11817842 METRN meteorin, glial cell differentiation regulator gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1353878 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11817842 METRN meteorin, glial cell differentiation regulator gene DOID:1826 epilepsy ISO RGD:1353878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11817842 METRN meteorin, glial cell differentiation regulator gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1353878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11817842 METRN meteorin, glial cell differentiation regulator gene DOID:630 genetic disease ISO RGD:1353878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817855 FREY1 Frey regulator of sperm-oocyte fusion 1 gene DOID:0050444 infantile Refsum disease ISO RGD:3543119 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 11817855 FREY1 Frey regulator of sperm-oocyte fusion 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:3543119 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11817855 FREY1 Frey regulator of sperm-oocyte fusion 1 gene DOID:1059 intellectual disability ISO RGD:3543119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11817855 FREY1 Frey regulator of sperm-oocyte fusion 1 gene DOID:905 Zellweger syndrome ISO RGD:3543119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 11817862 TMEM154 transmembrane protein 154 gene DOID:630 genetic disease ISO RGD:1603167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817874 NPY5R neuropeptide Y receptor Y5 gene DOID:0050830 peripheral artery disease ISO RGD:731586 D RGD:9068941 20200609 RGD PMID:21468772|REF_RGD_ID:10448273 11817874 NPY5R neuropeptide Y receptor Y5 gene DOID:11832 visual epilepsy ISO RGD:3199 D RGD:9068941 20200609 RGD PMID:9212103|REF_RGD_ID:1625496 11817874 NPY5R neuropeptide Y receptor Y5 gene DOID:1825 childhood absence epilepsy treatment ISO RGD:3199 D RGD:9068941 20200609 RGD PMID:17331209|REF_RGD_ID:10448963 11817874 NPY5R neuropeptide Y receptor Y5 gene DOID:1936 atherosclerosis ISO RGD:11017 D RGD:9068941 20200609 RGD PMID:21468772|REF_RGD_ID:10448273 11817874 NPY5R neuropeptide Y receptor Y5 gene DOID:2018 hyperinsulinism ISO RGD:3199 D RGD:9068941 20200609 RGD PMID:15187000|REF_RGD_ID:1625494 11817874 NPY5R neuropeptide Y receptor Y5 gene DOID:3146 lipid metabolism disorder susceptibility ISO RGD:731586 D RGD:9068941 20200609 RGD DNA:SNPs: :many PMID:17426313|REF_RGD_ID:1625492 11817874 NPY5R neuropeptide Y receptor Y5 gene DOID:4247 coronary restenosis ISO RGD:3199 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:carotid artery PMID:12689918|REF_RGD_ID:1625501 11817874 NPY5R neuropeptide Y receptor Y5 gene DOID:5394 prolactinoma ISO RGD:3199 D RGD:9068941 20200609 RGD protein:increased expression:pars anterior PMID:11026575|REF_RGD_ID:1625506 11817874 NPY5R neuropeptide Y receptor Y5 gene DOID:630 genetic disease ISO RGD:731586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817874 NPY5R neuropeptide Y receptor Y5 gene DOID:9001039 Leukocytosis ISO RGD:3199 D RGD:9068941 20200609 RGD PMID:12417430|REF_RGD_ID:729324 11817874 NPY5R neuropeptide Y receptor Y5 gene DOID:9005372 Inflammation ISO RGD:3199 D RGD:9068941 20200609 RGD PMID:12161018|REF_RGD_ID:1625503 11817874 NPY5R neuropeptide Y receptor Y5 gene DOID:9970 obesity ISO RGD:3199 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus PMID:17447163|REF_RGD_ID:10448938 11817874 NPY5R neuropeptide Y receptor Y5 gene DOID:9970 obesity ISO RGD:731586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10849579 11817874 NPY5R neuropeptide Y receptor Y5 gene DOID:9970 obesity susceptibility ISO RGD:731586 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:10849579|REF_RGD_ID:1625493 11817885 MED14 mediator complex subunit 14 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11817885 MED14 mediator complex subunit 14 gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1343127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 11817885 MED14 mediator complex subunit 14 gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1343127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 11817885 MED14 mediator complex subunit 14 gene DOID:1059 intellectual disability ISO RGD:1343127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11817885 MED14 mediator complex subunit 14 gene DOID:12849 autistic disorder ISO RGD:1343127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11817885 MED14 mediator complex subunit 14 gene DOID:289 endometriosis ISO RGD:1343127 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 11817885 MED14 mediator complex subunit 14 gene DOID:630 genetic disease ISO RGD:1343127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11817885 MED14 mediator complex subunit 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11817885 MED14 mediator complex subunit 14 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1343127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 11817921 SEPTIN8 septin 8 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318222 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11817921 SEPTIN8 septin 8 gene DOID:630 genetic disease ISO RGD:1318222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817921 SEPTIN8 septin 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11817921 SEPTIN8 septin 8 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318222 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11817950 PCID2 PCI domain containing 2 gene DOID:2213 hemorrhagic disease ISO RGD:1601857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 11817950 PCID2 PCI domain containing 2 gene DOID:2222 factor X deficiency ISO RGD:1601857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 11817950 PCID2 PCI domain containing 2 gene DOID:630 genetic disease ISO RGD:1601857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11817998 CILP2 cartilage intermediate layer protein 2 gene DOID:630 genetic disease ISO RGD:1322465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818010 WNT11 Wnt family member 11 gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:1344477 D RGD:9068941 20211217 RGD DNA:SNP:exon: A>G (rs1533767) (human) PMID:21393552|REF_RGD_ID:150530486 11818010 WNT11 Wnt family member 11 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1344477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex 11818010 WNT11 Wnt family member 11 gene DOID:1059 intellectual disability ISO RGD:1344477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11818010 WNT11 Wnt family member 11 gene DOID:10892 hypospadias ISO RGD:1344477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypospadias PMID:25741868 11818010 WNT11 Wnt family member 11 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1344477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25783350 11818010 WNT11 Wnt family member 11 gene DOID:4450 renal cell carcinoma ISO RGD:1344477 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:increased in a single case PMID:11712081|REF_RGD_ID:2299947 11818010 WNT11 Wnt family member 11 gene DOID:630 genetic disease ISO RGD:1344477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818010 WNT11 Wnt family member 11 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1344477 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:increased expression in 4/4 cases with Gleason sum score >= 7, also in progression from androgen-dependence to androgen-independence in xenografts PMID:15520198|REF_RGD_ID:2299946 11818010 WNT11 Wnt family member 11 gene DOID:9006205 Animal Disease Models ISO RGD:1344477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25783350 11818010 WNT11 Wnt family member 11 gene DOID:9007828 Abnormalities, Drug-Induced ISO RGD:1344477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25783350 11818019 ICE2 interactor of little elongation complex ELL subunit 2 gene DOID:1826 epilepsy ISO RGD:1351476 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11818019 ICE2 interactor of little elongation complex ELL subunit 2 gene DOID:2717 Bloom syndrome ISO RGD:1351476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11818019 ICE2 interactor of little elongation complex ELL subunit 2 gene DOID:630 genetic disease ISO RGD:1351476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818019 ICE2 interactor of little elongation complex ELL subunit 2 gene DOID:9004890 Paranoid Disorders ISO RGD:1351476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 11818019 ICE2 interactor of little elongation complex ELL subunit 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1351476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 11818019 ICE2 interactor of little elongation complex ELL subunit 2 gene DOID:9256 colorectal cancer ISO RGD:1351476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11818059 UBE2A ubiquitin conjugating enzyme E2 A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11818059 UBE2A ubiquitin conjugating enzyme E2 A gene DOID:0060820 syndromic X-linked intellectual disability Nascimento type ISO RGD:1346006 D RGD:7240710 20180130 OMIM 11818059 UBE2A ubiquitin conjugating enzyme E2 A gene DOID:0060820 syndromic X-linked intellectual disability Nascimento type ISO RGD:1346006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Nascimento type PMID:16909393|PMID:20412111|PMID:25741868 11818059 UBE2A ubiquitin conjugating enzyme E2 A gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1346006 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 11818059 UBE2A ubiquitin conjugating enzyme E2 A gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1346006 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 11818059 UBE2A ubiquitin conjugating enzyme E2 A gene DOID:12849 autistic disorder ISO RGD:1346006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11818059 UBE2A ubiquitin conjugating enzyme E2 A gene DOID:630 genetic disease ISO RGD:1346006 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:0050745 diffuse large B-cell lymphoma susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNP: :(rs1695)(human) PMID:19338043|REF_RGD_ID:8547939 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:0050860 colorectal adenoma ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNP: :p.A114V (human) PMID:20375710|REF_RGD_ID:7495820 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:mucosa: PMID:16982972|REF_RGD_ID:10755432 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:0050908 myelodysplastic syndrome susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:313A>G (p.I105V)(human) PMID:23278642|REF_RGD_ID:10755416 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732257 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:2758 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22272023|REF_RGD_ID:10401942 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15526359|PMID:16332721|PMID:20188851|PMID:21785164|PMID:2563599|PMID:7585603 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:732257 D RGD:9068941 20200609 RGD associated with stomach disease PMID:28182092|REF_RGD_ID:14700971 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:2758 D RGD:9068941 20200609 RGD PMID:21092749|REF_RGD_ID:10401933 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:2758 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X PMID:23981577|REF_RGD_ID:10401944 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:0060500 drug allergy ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:0060500 drug allergy susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD associated with Acquired Immunodeficiency Syndrome;DNA:polymorphism:exon:A>G313 (rs1695) (human) PMID:16297214|REF_RGD_ID:5490995 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:0060892 late onset Parkinson's disease susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:A>G313 (human) PMID:17250723|REF_RGD_ID:5148021 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23643483 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:10283 prostate cancer ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:9111193|REF_RGD_ID:6906883 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (human) PMID:17067754|REF_RGD_ID:4142515 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:1037 lymphoid leukemia susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.I105V(human) PMID:12010828|REF_RGD_ID:10755404 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:1059 intellectual disability ISO RGD:732257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:10591 pre-eclampsia susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.I105V (human) PMID:11826024|REF_RGD_ID:737707 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:10652 Alzheimer's disease ISO RGD:1620115 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex PMID:23211594|REF_RGD_ID:10401913 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:10652 Alzheimer's disease ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:24584466|REF_RGD_ID:10401912 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:17911365|REF_RGD_ID:5490271 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:15805147|REF_RGD_ID:5490123 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:10763 hypertension ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24915237 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:deletion, haplotype:: (human) PMID:28221473|REF_RGD_ID:12792224 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism::(rs1695)(human) PMID:22487578|REF_RGD_ID:8547932 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:11054 urinary bladder cancer ISO RGD:2758 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:21213404|REF_RGD_ID:10401939 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:11054 urinary bladder cancer ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12500666|PMID:22306368|PMID:7729958 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:11054 urinary bladder cancer ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:18544563|PMID:9111193|REF_RGD_ID:6906879|REF_RGD_ID:6906883 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:11132 prostatic hypertrophy treatment ISO RGD:2758 D RGD:9068941 20200609 RGD PMID:24205794|REF_RGD_ID:10401934 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:1115 sarcoma ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17152492 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:11476 osteoporosis ISO RGD:732257 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:missense mutation:cds:c.313A>G (p.I105V) (human) PMID:24593045|REF_RGD_ID:10401929 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:11650 bronchopulmonary dysplasia susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (human) PMID:14726935|REF_RGD_ID:4142520 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:1205 allergic disease susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (rs1695) (human) PMID:20526719|REF_RGD_ID:5133266 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:12361 Graves' disease susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:17980001|REF_RGD_ID:8547807 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:12849 autistic disorder ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17404132 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:13580 cholestasis treatment ISO RGD:2758 D RGD:9068941 20200609 RGD PMID:23960717|REF_RGD_ID:10401941 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:14067 Plasmodium falciparum malaria severity ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:19635899|REF_RGD_ID:10450848 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:14330 Parkinson's disease ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17190945|PMID:23721876 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:14330 Parkinson's disease ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:del: : PMID:9802272|REF_RGD_ID:1358669 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:1579 respiratory system disease susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNPs: :p.I105V (rs1695), rs749174, rs6591255 (human) PMID:19403501|REF_RGD_ID:4140942 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:1612 breast cancer treatment ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.I105V (rs1695) (human) PMID:23812950|REF_RGD_ID:10755330 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:1749 squamous cell carcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:11511301|REF_RGD_ID:6906882 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:1793 pancreatic cancer ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:19536452|REF_RGD_ID:2317805 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.I105V (rs1695) (human) PMID:19786118|REF_RGD_ID:2317804 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:1909 melanoma ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.I50V(human) PMID:23568549|REF_RGD_ID:8547833 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:2377 multiple sclerosis disease_progression ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (rs1695) (human) PMID:10680782|REF_RGD_ID:5490267 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:2394 ovarian cancer treatment ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.I105V(human) PMID:19786980|REF_RGD_ID:5688741 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:2773 contact dermatitis ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:2841 asthma ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNP: :p.A114V (human) PMID:18709160|REF_RGD_ID:4140947 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:2841 asthma ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNPs: :p.I105V, p.A114V (human) PMID:20858151|REF_RGD_ID:5490985 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:2841 asthma ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNPs:exons:p.I105V (rs1695), A114V (rs1138272) (human) PMID:15693909|REF_RGD_ID:5490999 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:2841 asthma ISO RGD:732257 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:11994713|PMID:16870661|PMID:18988661|PMID:24117884|PMID:29411558 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:2841 asthma disease_progression ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (human) PMID:18057098|REF_RGD_ID:4140951 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:2841 asthma no_association ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNPs: :p.I105V, p.A114V (human) PMID:16176403|REF_RGD_ID:4142519 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:2841 asthma severity ISO RGD:1620115 D RGD:9068941 20200609 RGD PMID:18787219|REF_RGD_ID:4140946 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:2841 asthma severity ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (rs1695) (human) PMID:10806136|REF_RGD_ID:4142526 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:2841 asthma susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNPs:intron,exon:(rs749174), (rs1138272)(human) PMID:20210814|REF_RGD_ID:5490991 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:2998 testicular cancer ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:9111193|REF_RGD_ID:6906883 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:3021 acute kidney failure ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:3021 acute kidney failure ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:20798258|REF_RGD_ID:6903954 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:305 carcinoma ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11196146 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:3069 malignant astrocytoma susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.A114V (human) PMID:12241105|REF_RGD_ID:5490125 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:3070 high grade glioma ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16899598 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:3070 high grade glioma susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (rs1695) (human) PMID:15006924|REF_RGD_ID:5490124 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (human) PMID:17439673|REF_RGD_ID:4142514 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (human) PMID:20467983|REF_RGD_ID:4140938 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:3310 atopic dermatitis ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (rs1695) (human) PMID:20674822|REF_RGD_ID:5490981 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:3310 atopic dermatitis susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (rs1695) (human) PMID:19842992|REF_RGD_ID:5490540 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16109392 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:3347 osteosarcoma ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17152492 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:3407 carotid artery disease ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16973168 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:3407 carotid artery disease susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (human) PMID:16973168|REF_RGD_ID:5490250 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:3426 vestibular disease ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18776599 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:methylation: : PMID:16537562|REF_RGD_ID:2317809 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas PMID:12488200|REF_RGD_ID:2317811 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:3587 pancreatic ductal carcinoma resistance ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:17265526|REF_RGD_ID:2317806 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:3602 toxic encephalopathy susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:17022435|REF_RGD_ID:5490249 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.I105V (human) PMID:17916905|REF_RGD_ID:14700982 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:3770 pulmonary fibrosis ISO RGD:732257 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic PMID:17044913|REF_RGD_ID:4142516 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:3904 bronchus carcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD mRNA:decreased expression:bronchus, epithelial cell PMID:10749130|REF_RGD_ID:4142527 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNP: :p.A114V (human) PMID:18258609|REF_RGD_ID:4140950 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (human) PMID:19174490|REF_RGD_ID:4140944 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:409 liver disease susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:12297838|REF_RGD_ID:4142524 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:4250 conjunctivochalasis ISO RGD:732257 D RGD:9068941 20200609 RGD protein:increased expression:tear: PMID:20861728|REF_RGD_ID:8547943 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:4450 renal cell carcinoma ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:4450 renal cell carcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:20464042|REF_RGD_ID:8547946 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:10383153|REF_RGD_ID:6906878 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:480 movement disease severity ISO RGD:732257 D RGD:9068941 20200609 RGD associated with with schizophrenia; DNA:polymorphism:exon:p.I105V (human) PMID:19051221|REF_RGD_ID:5490234 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:19484794|REF_RGD_ID:4140940 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:4947 cholangiocarcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:15467712|REF_RGD_ID:2317198 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:4947 cholangiocarcinoma treatment ISO RGD:732257 D RGD:9068941 20200609 RGD human cell line in a mouse model PMID:12805482|REF_RGD_ID:14401711 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:4961 bone marrow disease susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;DNA:polymorphism:cds:p.I105V(human) PMID:16995867|REF_RGD_ID:10755423 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:4990 essential tremor ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18215156 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:557 kidney disease ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12868187 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:574 peripheral nervous system disease ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20979931 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:574 peripheral nervous system disease severity ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V(human) PMID:19223573|REF_RGD_ID:5490233 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:630 genetic disease ISO RGD:732257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:670 amphetamine abuse ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15729709 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9029167 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:increased methylation:promoter PMID:22536438|REF_RGD_ID:14401712 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:700 mitochondrial metabolism disease ISO RGD:732257 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30673822 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:74 hematopoietic system disease susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.I105V(human) PMID:18540691|REF_RGD_ID:10755418 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:8283 peritonitis ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:18962899|REF_RGD_ID:4140945 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:850 lung disease ISO RGD:732257 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:18962899|REF_RGD_ID:4140945 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20843134 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:8567 Hodgkin's lymphoma ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11406608 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:2758 D RGD:9068941 20200609 RGD PMID:24312188|REF_RGD_ID:10401940 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581815 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:8646 substance-induced psychosis ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15729709 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:8692 myeloid leukemia susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.I105V (rs1695) (human) PMID:20843134|REF_RGD_ID:10755535 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:8893 psoriasis ISO RGD:732257 D RGD:9068941 20200609 RGD protein:increased expression:epidermis: PMID:21805023|REF_RGD_ID:5491007 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9000011 Gallbladder Neoplasms susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.I105V (rs1695) (human) PMID:16760134|REF_RGD_ID:2317808 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21133646|PMID:21364753 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9000918 Disease Progression ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9000970 Focal Nodular Hyperplasia ISO RGD:2758 D RGD:9068941 20220708 RGD protein:increased expression:liver (rat) PMID:3965145|REF_RGD_ID:152998958 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2758 D RGD:9068941 20200609 RGD PMID:12016164|REF_RGD_ID:2317823 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2758 D RGD:9068941 20220708 RGD protein:increased expression:liver (rat) PMID:3965145|REF_RGD_ID:152998958 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20188851|PMID:2563599|PMID:3124819|PMID:7585603 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11196146|PMID:15538743|PMID:17173048|PMID:19223546|PMID:22581815 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9002315 Kidney Calculi ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24360074 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism: : rs1695(human) PMID:25008867|REF_RGD_ID:10755412 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9003157 Respiratory Sounds ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18950799 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9003613 Laryngeal Neoplasms ISO RGD:732257 D RGD:9068941 20200609 RGD protein:increased expression:larynx PMID:18335753|REF_RGD_ID:4140949 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9003657 Perennial Allergic Rhinitis susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (rs1695) (human) PMID:17181111|REF_RGD_ID:4142523 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:732257 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1620115 D RGD:9068941 20200609 RGD PMID:17142801|REF_RGD_ID:6903953 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9004289 Drug-Induced Leukopenia susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD associated with Urologic Neoplasms;DNA:polymorphism:cds:p.I105V(human) PMID:17593093|REF_RGD_ID:10755415 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.I105V (rs1695) (human) PMID:23812950|REF_RGD_ID:10755330 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9004814 Chromosome Aberrations ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16537716 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17909032 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9005452 Ureteral Calculi ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24360074 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9005700 Airway Obstruction severity ISO RGD:732257 D RGD:9068941 20200609 RGD associated with Bronchial Hyperreactivity;DNA:polymorphism:exon:p.I105V (rs1695) (human) PMID:10919500|REF_RGD_ID:4142525 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9005749 Necrosis ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14710442 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9005837 Cholangiofibrosis ISO RGD:2758 D RGD:9068941 20200609 RGD PMID:22576464|REF_RGD_ID:10401932 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9007073 Cough ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:18447907|REF_RGD_ID:4140948 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9007090 Experimental Seizures treatment ISO RGD:2758 D RGD:9068941 20200609 RGD PMID:22038365|REF_RGD_ID:10401935 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750|PMID:25226513 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9007417 Pseudomonas Infections susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:18976645|REF_RGD_ID:4142522 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9007970 Chronic Cerebral Hypoperfusion treatment ISO RGD:2758 D RGD:9068941 20200609 RGD PMID:16645134|REF_RGD_ID:10401930 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:732257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:19922504 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25322848 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:11906705|REF_RGD_ID:10755328 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.I105V(human) PMID:21729529|REF_RGD_ID:10755422 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD chemotherapy-induced; PMID:11553769|REF_RGD_ID:10755420 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (rs1695) (human) PMID:20739761|REF_RGD_ID:5490963 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9471 meningitis ISO RGD:732257 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:9262228|REF_RGD_ID:5491002 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9538 multiple myeloma disease_progression ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:23953887|REF_RGD_ID:10755413 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9538 multiple myeloma no_association ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.I105V(human) PMID:18061666|REF_RGD_ID:10755419 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9538 multiple myeloma treatment ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:17512053|REF_RGD_ID:11075094 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9669 senile cataract susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:10892871|REF_RGD_ID:8547933 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9675 pulmonary emphysema ISO RGD:732257 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive;DNA:SNP (human) PMID:20525719|REF_RGD_ID:4140935 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:haplotype:cds: PMID:10666194|REF_RGD_ID:10450829 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism: :1578 a>G(human) PMID:23979883|REF_RGD_ID:10755417 11818070 GSTP1 glutathione S-transferase pi 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:transition mutation:exon: PMID:15738600|REF_RGD_ID:10755321 11818087 ARRDC4 arrestin domain containing 4 gene DOID:630 genetic disease ISO RGD:1323388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818103 RBM17 RNA binding motif protein 17 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1322546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11818103 RBM17 RNA binding motif protein 17 gene DOID:5419 schizophrenia ISO RGD:1322546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11818103 RBM17 RNA binding motif protein 17 gene DOID:630 genetic disease ISO RGD:1322546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818103 RBM17 RNA binding motif protein 17 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1322546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18337722 11818118 ANXA4 annexin A4 gene DOID:0060071 pre-malignant neoplasm ISO RGD:735938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11818118 ANXA4 annexin A4 gene DOID:305 carcinoma ISO RGD:735938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11818118 ANXA4 annexin A4 gene DOID:4450 renal cell carcinoma ISO RGD:735938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 11818118 ANXA4 annexin A4 gene DOID:630 genetic disease ISO RGD:735938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818118 ANXA4 annexin A4 gene DOID:684 hepatocellular carcinoma ISO RGD:735938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11818118 ANXA4 annexin A4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11818118 ANXA4 annexin A4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 11818118 ANXA4 annexin A4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11818118 ANXA4 annexin A4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11818118 ANXA4 annexin A4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11818118 ANXA4 annexin A4 gene DOID:9007188 Liver Neoplasms ISO RGD:735938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11818118 ANXA4 annexin A4 gene DOID:9119 acute myeloid leukemia ISO RGD:735938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11818141 KLK15 kallikrein related peptidase 15 gene DOID:630 genetic disease ISO RGD:1322213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818158 TEAD4 TEA domain transcription factor 4 gene DOID:630 genetic disease ISO RGD:1605719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818158 TEAD4 TEA domain transcription factor 4 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1605719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11818180 AHSP alpha hemoglobin stabilizing protein gene DOID:630 genetic disease ISO RGD:1315507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818187 ITFG2 integrin alpha FG-GAP repeat containing 2 gene DOID:630 genetic disease ISO RGD:1603635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818187 ITFG2 integrin alpha FG-GAP repeat containing 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1603635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11818219 LY6G5B lymphocyte antigen 6 family member G5B gene DOID:0050553 JMP syndrome ISO RGD:1349012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11818219 LY6G5B lymphocyte antigen 6 family member G5B gene DOID:11372 megacolon ISO RGD:1349012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11818219 LY6G5B lymphocyte antigen 6 family member G5B gene DOID:630 genetic disease ISO RGD:1349012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818227 ZNF345 zinc finger protein 345 gene DOID:630 genetic disease ISO RGD:1350063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818259 B3GALT2 beta-1,3-galactosyltransferase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1347261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:12434154|PMID:25444225|PMID:28492532|PMID:29040582 11818259 B3GALT2 beta-1,3-galactosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1347261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818259 B3GALT2 beta-1,3-galactosyltransferase 2 gene DOID:9002327 Hyperparathyroidism 2 ISO RGD:1347261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors PMID:25637381 11818259 B3GALT2 beta-1,3-galactosyltransferase 2 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1347261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:25741868|PMID:28774260 11818259 B3GALT2 beta-1,3-galactosyltransferase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11818265 ATP5PD ATP synthase peripheral stalk subunit d gene DOID:0050328 congenital hypothyroidism ISO RGD:620083 D RGD:9068941 20200609 RGD protein:altered expression:cerebral cortex (rat) PMID:21575372|REF_RGD_ID:11049155 11818265 ATP5PD ATP synthase peripheral stalk subunit d gene DOID:1596 depressive disorder treatment ISO RGD:620083 D RGD:9068941 20200609 RGD PMID:25641667|REF_RGD_ID:13800885 11818265 ATP5PD ATP synthase peripheral stalk subunit d gene DOID:3910 lung adenocarcinoma ISO RGD:1351705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 11818265 ATP5PD ATP synthase peripheral stalk subunit d gene DOID:684 hepatocellular carcinoma ISO RGD:1351705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11818265 ATP5PD ATP synthase peripheral stalk subunit d gene DOID:9000998 Brain Injuries treatment ISO RGD:620083 D RGD:9068941 20200609 RGD PMID:26813465|REF_RGD_ID:13800884 11818265 ATP5PD ATP synthase peripheral stalk subunit d gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620083 D RGD:9068941 20200609 RGD protein:decreased expression:retina (rat) PMID:17465459|REF_RGD_ID:5147874 11818275 MIEF2 mitochondrial elongation factor 2 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1347197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 11818275 MIEF2 mitochondrial elongation factor 2 gene DOID:0050777 Joubert syndrome ISO RGD:1347197 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11818275 MIEF2 mitochondrial elongation factor 2 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1347197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 11818275 MIEF2 mitochondrial elongation factor 2 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1347197 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 11818275 MIEF2 mitochondrial elongation factor 2 gene DOID:0112110 combined oxidative phosphorylation deficiency 49 ISO RGD:1347197 D RGD:7240710 20200930 OMIM 11818275 MIEF2 mitochondrial elongation factor 2 gene DOID:0112110 combined oxidative phosphorylation deficiency 49 ISO RGD:1347197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 49 PMID:29361167 11818275 MIEF2 mitochondrial elongation factor 2 gene DOID:12849 autistic disorder ISO RGD:1347197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11818275 MIEF2 mitochondrial elongation factor 2 gene DOID:630 genetic disease ISO RGD:1347197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818287 MICOS13 mitochondrial contact site and cristae organizing system subunit 13 gene DOID:0111499 combined oxidative phosphorylation deficiency 37 ISO RGD:1601829 D RGD:7240710 20190315 OMIM 11818287 MICOS13 mitochondrial contact site and cristae organizing system subunit 13 gene DOID:0111499 combined oxidative phosphorylation deficiency 37 ISO RGD:1601829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 37 | ClinVar Annotator: match by term: Mitochondrial hepato-encephalopathy PMID:27485409|PMID:27623147|PMID:29618761 11818298 BBS12 Bardet-Biedl syndrome 12 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1603548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:20498079|PMID:22025579|PMID:22773737|PMID:25741868|PMID:25780760|PMID:28492532|PMID:31196119 11818298 BBS12 Bardet-Biedl syndrome 12 gene DOID:0110134 Bardet-Biedl syndrome 12 ISO RGD:1603548 D RGD:7240710 20180130 OMIM 11818298 BBS12 Bardet-Biedl syndrome 12 gene DOID:0110134 Bardet-Biedl syndrome 12 ISO RGD:1603548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 12 PMID:17160889|PMID:20080638|PMID:20120035|PMID:20142850|PMID:20472660|PMID:20498079|PMID:20648243|PMID:20827784|PMID:21052717|PMID:21209035|PMID:21344540|PMID:21463199|PMID:21642631|PMID:22025579|PMID:22410627|PMID:22773737|PMID:23591405|PMID:24611592|PMID:25133751|PMID:25170860|PMID:25741868|PMID:25780760|PMID:25982971|PMID:26489029|PMID:27004616|PMID:27659767|PMID:27708425|PMID:28224992|PMID:28492532|PMID:28912962|PMID:30614526|PMID:30718709|PMID:31196119|PMID:32531858|PMID:33046855|PMID:33532864 11818298 BBS12 Bardet-Biedl syndrome 12 gene DOID:10584 retinitis pigmentosa ISO RGD:1603548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17160889|PMID:20120035|PMID:20498079|PMID:25741868|PMID:28492532|PMID:30718709 11818298 BBS12 Bardet-Biedl syndrome 12 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1603548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:17160889|PMID:20080638|PMID:20120035|PMID:20142850|PMID:20472660|PMID:20498079|PMID:20648243|PMID:20827784|PMID:21209035|PMID:21344540|PMID:21463199|PMID:21642631|PMID:22025579|PMID:22410627|PMID:22773737|PMID:23591405|PMID:24611592|PMID:25133751|PMID:25170860|PMID:25741868|PMID:25780760|PMID:25982971|PMID:26489029|PMID:27004616|PMID:27659767|PMID:27708425|PMID:28224992|PMID:28492532|PMID:28912962|PMID:30614526|PMID:30718709|PMID:31196119|PMID:31888296|PMID:32531858|PMID:33046855|PMID:33964006 11818298 BBS12 Bardet-Biedl syndrome 12 gene DOID:630 genetic disease ISO RGD:1603548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20472660|PMID:25133751|PMID:25741868|PMID:28492532|PMID:33046855 11818298 BBS12 Bardet-Biedl syndrome 12 gene DOID:8501 fundus dystrophy ISO RGD:1603548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17160889|PMID:20080638|PMID:20120035|PMID:20472660|PMID:20498079|PMID:20827784|PMID:21209035|PMID:21463199|PMID:21642631|PMID:22410627|PMID:24611592|PMID:25741868|PMID:25982971|PMID:26489029|PMID:27659767|PMID:28492532|PMID:30614526|PMID:30718709|PMID:32531858|PMID:33046855 11818298 BBS12 Bardet-Biedl syndrome 12 gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1603548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 PMID:17160889|PMID:23591405|PMID:25741868|PMID:28492532|PMID:30614526 11818298 BBS12 Bardet-Biedl syndrome 12 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1603548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:26299366|PMID:28492532 11818298 BBS12 Bardet-Biedl syndrome 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11818298 BBS12 Bardet-Biedl syndrome 12 gene DOID:9006534 Nervous System Malformations ISO RGD:1603548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:17160889|PMID:23591405|PMID:25741868|PMID:28492532 11818311 CCNC cyclin C gene DOID:630 genetic disease ISO RGD:736281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818311 CCNC cyclin C gene DOID:9007730 Burns ISO RGD:70905 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:16271231|REF_RGD_ID:2315993 11818330 LOC100989340 E3 SUMO-protein ligase RanBP2 gene DOID:0050591 tooth agenesis ISO RGD:1351414 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Oligodontia PMID:23210707 11818330 LOC100989340 E3 SUMO-protein ligase RanBP2 gene DOID:0050905 inflammatory myofibroblastic tumor ISO RGD:1351414 D RGD:9068941 20200609 RGD DNA:translocations:intron: (human) PMID:12661011|REF_RGD_ID:9999211 11818330 LOC100989340 E3 SUMO-protein ligase RanBP2 gene DOID:0060041 autism spectrum disorder ISO RGD:1351414 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:24807792|PMID:25255310 11818330 LOC100989340 E3 SUMO-protein ligase RanBP2 gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:1351414 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:10431241|PMID:18231121|PMID:20236127|PMID:20979233|PMID:25741868|PMID:28492532 11818330 LOC100989340 E3 SUMO-protein ligase RanBP2 gene DOID:0080855 Parkinsonism severity ISO RGD:1558482 D RGD:9068941 20200609 RGD PMID:22821000|REF_RGD_ID:9835348 11818330 LOC100989340 E3 SUMO-protein ligase RanBP2 gene DOID:0111201 distal hereditary motor neuronopathy type 7A ISO RGD:1351414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A PMID:28492532 11818330 LOC100989340 E3 SUMO-protein ligase RanBP2 gene DOID:0111654 ectodermal dysplasia 11B ISO RGD:1351414 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive PMID:10431241|PMID:11035039|PMID:15013427|PMID:16435307|PMID:18231121|PMID:20979233|PMID:23401279|PMID:25741868|PMID:27657131|PMID:28492532 11818330 LOC100989340 E3 SUMO-protein ligase RanBP2 gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1351414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant PMID:10431241|PMID:10431242|PMID:11035039|PMID:15013427|PMID:16029325|PMID:16199547|PMID:16435307|PMID:17125505|PMID:17576681|PMID:18065779|PMID:18231121|PMID:18561327|PMID:18704500|PMID:18854857|PMID:19438931|PMID:20236127|PMID:20979233|PMID:21771270|PMID:21876339|PMID:22032522|PMID:23401279|PMID:23991204|PMID:24033266|PMID:24641098|PMID:24884697|PMID:25741868|PMID:26077850|PMID:26336973|PMID:27305980|PMID:27657131|PMID:28265457|PMID:28492532|PMID:28981473|PMID:32274043|PMID:32325225|PMID:33205897|PMID:9536098 11818330 LOC100989340 E3 SUMO-protein ligase RanBP2 gene DOID:0111665 ectodermal dysplasia 10B ISO RGD:1351414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive PMID:10431241|PMID:11279189|PMID:15373768|PMID:16435307|PMID:18065779|PMID:18231121|PMID:18561327|PMID:18704500|PMID:18816645|PMID:20236127|PMID:20979233|PMID:22032522|PMID:24033266|PMID:25741868|PMID:28492532 11818330 LOC100989340 E3 SUMO-protein ligase RanBP2 gene DOID:12336 male infertility ISO RGD:1558482 D RGD:9068941 20200609 RGD PMID:21310149|REF_RGD_ID:9835350 11818330 LOC100989340 E3 SUMO-protein ligase RanBP2 gene DOID:13714 anodontia ISO RGD:1351414 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Non-syndromic oligodontia PMID:10431241|PMID:17125505|PMID:18065779|PMID:18561327|PMID:18704500|PMID:24884697|PMID:25741868|PMID:26336973|PMID:27305980|PMID:28492532 11818330 LOC100989340 E3 SUMO-protein ligase RanBP2 gene DOID:14793 hypohidrotic ectodermal dysplasia ISO RGD:1351414 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia PMID:18065779|PMID:18561327|PMID:18704500|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28808699 11818330 LOC100989340 E3 SUMO-protein ligase RanBP2 gene DOID:2121 ectodermal dysplasia ISO RGD:1351414 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Dominant PMID:16435307|PMID:18065779|PMID:18561327|PMID:18704500|PMID:18816645|PMID:23210707|PMID:24033266|PMID:25741868|PMID:28492532 11818330 LOC100989340 E3 SUMO-protein ligase RanBP2 gene DOID:4194 glucose metabolism disease ISO RGD:1558482 D RGD:9068941 20200609 RGD PMID:17069463|REF_RGD_ID:9835347 11818330 LOC100989340 E3 SUMO-protein ligase RanBP2 gene DOID:630 genetic disease ISO RGD:1351414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23401279|PMID:25741868|PMID:28166811|PMID:28492532 11818330 LOC100989340 E3 SUMO-protein ligase RanBP2 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1351414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ENCEPHALOPATHY, ACUTE NECROTIZING, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:17576681|PMID:19118815|PMID:19811512|PMID:20473521|PMID:21205700|PMID:21945312|PMID:25128471|PMID:25522933|PMID:25640679|PMID:25741868|PMID:26110162|PMID:26923722|PMID:2759111|PMID:27591117|PMID:28166811|PMID:28336122|PMID:28492532|PMID:29593631|PMID:9536098 11818330 LOC100989340 E3 SUMO-protein ligase RanBP2 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 susceptibility ISO RGD:1351414 D RGD:7240710 20190502 OMIM 11818330 LOC100989340 E3 SUMO-protein ligase RanBP2 gene DOID:9004794 Granuloma, Plasma Cell ISO RGD:1351414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21030459 11818330 LOC100989340 E3 SUMO-protein ligase RanBP2 gene DOID:9005884 Potassium Aggravated Myotonia ISO RGD:1351414 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Potassium-aggravated myotonia PMID:25741868 11818330 LOC100989340 E3 SUMO-protein ligase RanBP2 gene DOID:9538 multiple myeloma ISO RGD:1351414 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow, plasma cell (human) PMID:19171422|REF_RGD_ID:9835349 11818354 KLK11 kallikrein related peptidase 11 gene DOID:630 genetic disease ISO RGD:1318610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818367 C1H1orf105 chromosome 1 C1orf105 homolog gene DOID:0081223 glycosylphosphatidylinositol biosynthesis defect 16 ISO RGD:1603371 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 16 PMID:25741868|PMID:25741900|PMID:27694521|PMID:28492532 11818367 C1H1orf105 chromosome 1 C1orf105 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1603371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11818367 C1H1orf105 chromosome 1 C1orf105 homolog gene DOID:630 genetic disease ISO RGD:1603371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11818367 C1H1orf105 chromosome 1 C1orf105 homolog gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1603371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 11818367 C1H1orf105 chromosome 1 C1orf105 homolog gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1603371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 11818367 C1H1orf105 chromosome 1 C1orf105 homolog gene DOID:9008086 Developmental Disabilities ISO RGD:1603371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741900 11818367 C1H1orf105 chromosome 1 C1orf105 homolog gene DOID:9008386 Hydrops Fetalis ISO RGD:1603371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 11818367 C1H1orf105 chromosome 1 C1orf105 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11818409 LSG1 large 60S subunit nuclear export GTPase 1 gene DOID:630 genetic disease ISO RGD:1605064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818409 LSG1 large 60S subunit nuclear export GTPase 1 gene DOID:9000998 Brain Injuries ISO RGD:1605064 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14499481 11818427 SETX senataxin gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1347866 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:25741868 11818427 SETX senataxin gene DOID:0050753 cerebellar ataxia ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25558065|PMID:26467025 11818427 SETX senataxin gene DOID:0050754 ataxia with oculomotor apraxia type 1 ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia PMID:32488064 11818427 SETX senataxin gene DOID:0050755 ataxia with oculomotor apraxia type 2 ISO RGD:1347866 D RGD:7240710 20180130 OMIM 11818427 SETX senataxin gene DOID:0050755 ataxia with oculomotor apraxia type 2 ISO RGD:1347866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 PMID:14770181|PMID:15732101|PMID:17159128|PMID:17576681|PMID:17720498|PMID:18058631|PMID:18414213|PMID:18625865|PMID:19569000|PMID:19696032|PMID:20540686|PMID:20981092|PMID:21190393|PMID:22088787|PMID:23129421|PMID:23757202|PMID:23806086|PMID:23881933|PMID:23941260|PMID:24033266|PMID:24088041|PMID:24760770|PMID:24814856|PMID:25025039|PMID:25116135|PMID:25174650|PMID:25182519|PMID:25299611|PMID:25326635|PMID:25382069|PMID:25525159|PMID:25741868|PMID:25802885|PMID:26257172|PMID:26467025|PMID:26601740|PMID:26633545|PMID:27013921|PMID:27790088|PMID:28130640|PMID:28245518|PMID:28492532|PMID:28642336|PMID:28832565|PMID:29411640|PMID:29482223|PMID:29650794|PMID:30198223|PMID:30564185|PMID:31589614|PMID:31692161|PMID:31957062|PMID:32253937|PMID:32397312|PMID:33098801|PMID:9536098 11818427 SETX senataxin gene DOID:0050952 spastic ataxia ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:26467025|PMID:28492532|PMID:28708278 11818427 SETX senataxin gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant PMID:23757202|PMID:25741868|PMID:28492532 11818427 SETX senataxin gene DOID:0060196 juvenile amyotrophic lateral sclerosis 4 ISO RGD:1347866 D RGD:7240710 20180130 OMIM 11818427 SETX senataxin gene DOID:0060196 juvenile amyotrophic lateral sclerosis 4 ISO RGD:1347866 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 4 PMID:14770181|PMID:15106121|PMID:16199547|PMID:17096168|PMID:17159128|PMID:17576681|PMID:18058631|PMID:19569000|PMID:19696032|PMID:19744353|PMID:20540686|PMID:20981092|PMID:21190393|PMID:21438761|PMID:21576111|PMID:22088787|PMID:22995991|PMID:23111195|PMID:23129421|PMID:23566282|PMID:23757202|PMID:23881933|PMID:23941260|PMID:24030952|PMID:24033266|PMID:24105744|PMID:24108619|PMID:24244371|PMID:24760770|PMID:25025039|PMID:25116135|PMID:25174650|PMID:25182519|PMID:25299611|PMID:25353622|PMID:25382069|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25927548|PMID:26467025|PMID:26601740|PMID:26752306|PMID:27013921|PMID:27422356|PMID:27790088|PMID:28130640|PMID:28492532|PMID:28642336|PMID:28708278|PMID:28832565|PMID:29411640|PMID:29650794|PMID:30220148|PMID:30564185|PMID:30642639|PMID:30778698|PMID:31325016|PMID:31429931|PMID:31432357|PMID:31656689|PMID:31692161|PMID:31957062|PMID:32028661|PMID:32166880|PMID:32186211|PMID:32253937|PMID:32397312|PMID:33098801|PMID:33956305|PMID:34565360|PMID:9497266|PMID:9536098 11818427 SETX senataxin gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1347866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11818427 SETX senataxin gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1347866 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11818427 SETX senataxin gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1347866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11818427 SETX senataxin gene DOID:0081097 Rafiq syndrome ISO RGD:1347866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11818427 SETX senataxin gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy PMID:19696032|PMID:22088787|PMID:25741868|PMID:26467025|PMID:28492532 11818427 SETX senataxin gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:24533459 11818427 SETX senataxin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1347866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:15732101|PMID:16717225|PMID:19696032|PMID:25025039|PMID:25741868|PMID:25802885|PMID:26467025|PMID:28492532 11818427 SETX senataxin gene DOID:12377 spinal muscular atrophy ISO RGD:1347866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Proximal spinal muscular atrophy PMID:15106121|PMID:21438761|PMID:21576111|PMID:22088787|PMID:24105744|PMID:24244371|PMID:25741868|PMID:28492532|PMID:9497266 11818427 SETX senataxin gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11818427 SETX senataxin gene DOID:1969 cerebral palsy ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:18414213|PMID:24088041|PMID:25741868|PMID:26633545 11818427 SETX senataxin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347866 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:17096168|PMID:17159128|PMID:17576681|PMID:18058631|PMID:19569000|PMID:19696032|PMID:20981092|PMID:21190393|PMID:22088787|PMID:22995991|PMID:23129421|PMID:23881933|PMID:23941260|PMID:25174650|PMID:25382069|PMID:25741868|PMID:26467025|PMID:27013921|PMID:27790088|PMID:28130640|PMID:28492532|PMID:28642336|PMID:28832565|PMID:29411640|PMID:31957062|PMID:32253937|PMID:9536098 11818427 SETX senataxin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347866 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17096168|PMID:17159128|PMID:17576681|PMID:18058631|PMID:19569000|PMID:19696032|PMID:20981092|PMID:21190393|PMID:22088787|PMID:22995991|PMID:23129421|PMID:23881933|PMID:23941260|PMID:25174650|PMID:25382069|PMID:25741868|PMID:26467025|PMID:27013921|PMID:27790088|PMID:28130640|PMID:28492532|PMID:28642336|PMID:28832565|PMID:29411640|PMID:29650794|PMID:31957062|PMID:32253937|PMID:9536098 11818427 SETX senataxin gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1347866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:18058631|PMID:23129421|PMID:23881933|PMID:25741868|PMID:26467025|PMID:27790088|PMID:28492532|PMID:28832565|PMID:32253937 11818427 SETX senataxin gene DOID:3320 Tay-Sachs disease ISO RGD:1347866 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:25741868|PMID:28492532 11818427 SETX senataxin gene DOID:3652 Leigh disease ISO RGD:1347866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11818427 SETX senataxin gene DOID:543 dystonia ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:28492532 11818427 SETX senataxin gene DOID:607 paraplegia ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:17159128|PMID:19569000|PMID:20981092|PMID:23941260|PMID:25741868|PMID:26467025|PMID:28492532 11818427 SETX senataxin gene DOID:630 genetic disease ISO RGD:1347866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14770181|PMID:15732101|PMID:16644229|PMID:17159128|PMID:17576681|PMID:17720498|PMID:18058631|PMID:19569000|PMID:23129421|PMID:23881933|PMID:25025039|PMID:25174650|PMID:25182519|PMID:25299611|PMID:25353622|PMID:25382069|PMID:25525159|PMID:25741868|PMID:25802885|PMID:26467025|PMID:26752306|PMID:27013921|PMID:27790088|PMID:28245518|PMID:28492532|PMID:28642336|PMID:28708278|PMID:28832565|PMID:29170628|PMID:29411640|PMID:29650794|PMID:30220148|PMID:30564185|PMID:31069529|PMID:31429931|PMID:31589614|PMID:31692161|PMID:31957062|PMID:32028661|PMID:32166880|PMID:32186211|PMID:32253937|PMID:32397312|PMID:9536098 11818427 SETX senataxin gene DOID:9255 frontotemporal dementia ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:26467025|PMID:28492532 11818472 ILVBL ilvB acetolactate synthase like gene DOID:630 genetic disease ISO RGD:1317496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818495 CASP3 caspase 3 gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:2275 D RGD:9068941 20200609 RGD associated with gastric adenocarcinoma PMID:29588340|REF_RGD_ID:13792594 11818495 CASP3 caspase 3 gene DOID:0060108 brain glioma treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29324390|REF_RGD_ID:13792598 11818495 CASP3 caspase 3 gene DOID:0060186 chemical colitis treatment ISO RGD:10289 D RGD:9068941 20200609 RGD PMID:28740344|REF_RGD_ID:13782278 11818495 CASP3 caspase 3 gene DOID:0080855 Parkinsonism treatment ISO RGD:10289 D RGD:9068941 20200609 RGD PMID:28338241|REF_RGD_ID:13503338 11818495 CASP3 caspase 3 gene DOID:0080855 Parkinsonism treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:27016191|PMID:28881616|REF_RGD_ID:13503337|REF_RGD_ID:13503339 11818495 CASP3 caspase 3 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:18288275|REF_RGD_ID:2293324 11818495 CASP3 caspase 3 gene DOID:1002 endometritis treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:26920733|REF_RGD_ID:13782281 11818495 CASP3 caspase 3 gene DOID:10283 prostate cancer ISO RGD:731002 D RGD:9068941 20200609 RGD PMID:18253123|REF_RGD_ID:2293304 11818495 CASP3 caspase 3 gene DOID:104 bacterial infectious disease ISO RGD:10289 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:16443785|REF_RGD_ID:2311430 11818495 CASP3 caspase 3 gene DOID:10534 stomach cancer ameliorates ISO RGD:731002 D RGD:9068941 20211029 RGD human cells in mouse model PMID:26432329|REF_RGD_ID:150520156 11818495 CASP3 caspase 3 gene DOID:10534 stomach cancer treatment ISO RGD:731002 D RGD:9068941 20210625 RGD human cells in mouse model PMID:29408335|PMID:32106377|REF_RGD_ID:127284846|REF_RGD_ID:127284886 11818495 CASP3 caspase 3 gene DOID:10652 Alzheimer's disease ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18077176 11818495 CASP3 caspase 3 gene DOID:10652 Alzheimer's disease ISO RGD:731002 D RGD:9068941 20200609 RGD PMID:10319819|PMID:12633148|REF_RGD_ID:13782269|REF_RGD_ID:734692 11818495 CASP3 caspase 3 gene DOID:10652 Alzheimer's disease treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29587274|PMID:29642617|PMID:29777699|REF_RGD_ID:13782186|REF_RGD_ID:13782188|REF_RGD_ID:13782291 11818495 CASP3 caspase 3 gene DOID:10763 hypertension ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:27929425|REF_RGD_ID:13782308 11818495 CASP3 caspase 3 gene DOID:10763 hypertension treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:20065158|REF_RGD_ID:10053702 11818495 CASP3 caspase 3 gene DOID:10808 gastric ulcer treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29339218|REF_RGD_ID:13792597 11818495 CASP3 caspase 3 gene DOID:10854 salivary gland disease ISO RGD:10289 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased activity:submandibular gland, acinar cell PMID:19356238|REF_RGD_ID:2311442 11818495 CASP3 caspase 3 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:731002 D RGD:9068941 20200609 RGD PMID:17267327|REF_RGD_ID:2298949 11818495 CASP3 caspase 3 gene DOID:11383 cryptorchidism ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29606031|REF_RGD_ID:13792609 11818495 CASP3 caspase 3 gene DOID:11383 cryptorchidism ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26050606 11818495 CASP3 caspase 3 gene DOID:114 heart disease ISO RGD:2275 D RGD:9068941 20200609 RGD associated with Multiple Trauma PMID:28825094|REF_RGD_ID:13782301 11818495 CASP3 caspase 3 gene DOID:11446 sciatic neuropathy ISO RGD:2275 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal root ganglion PMID:29659443|REF_RGD_ID:13782273 11818495 CASP3 caspase 3 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:26431790|REF_RGD_ID:11537057 11818495 CASP3 caspase 3 gene DOID:11713 diabetic angiopathy ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 11818495 CASP3 caspase 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:2275 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:18192848|REF_RGD_ID:2293330 11818495 CASP3 caspase 3 gene DOID:11996 spermatic cord torsion ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29250764|REF_RGD_ID:13782294 11818495 CASP3 caspase 3 gene DOID:12858 Huntington's disease ISO RGD:731002 D RGD:9068941 20200609 RGD PMID:15668790|REF_RGD_ID:10413886 11818495 CASP3 caspase 3 gene DOID:12858 Huntington's disease treatment ISO RGD:10289 D RGD:9068941 20200609 RGD PMID:10888929|REF_RGD_ID:13432082 11818495 CASP3 caspase 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:26004897|REF_RGD_ID:13782348 11818495 CASP3 caspase 3 gene DOID:14330 Parkinson's disease treatment ISO RGD:731002 D RGD:9068941 20200609 RGD PMID:16505307|REF_RGD_ID:13503345 11818495 CASP3 caspase 3 gene DOID:1612 breast cancer ISO RGD:731002 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:23979166|REF_RGD_ID:13209143 11818495 CASP3 caspase 3 gene DOID:1612 breast cancer severity ISO RGD:731002 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:18227733|REF_RGD_ID:2293092 11818495 CASP3 caspase 3 gene DOID:182 calcinosis ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11818495 CASP3 caspase 3 gene DOID:1824 status epilepticus ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16679645|PMID:18571097 11818495 CASP3 caspase 3 gene DOID:1824 status epilepticus treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:20214503|REF_RGD_ID:10054104 11818495 CASP3 caspase 3 gene DOID:1875 impotence treatment ISO RGD:2275 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21235725|REF_RGD_ID:10053666 11818495 CASP3 caspase 3 gene DOID:1936 atherosclerosis treatment ISO RGD:2275 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:29213335|REF_RGD_ID:13792600 11818495 CASP3 caspase 3 gene DOID:219 colon cancer ISO RGD:731002 D RGD:9068941 20200609 RGD protein:decreased expression:colon PMID:23979166|REF_RGD_ID:13209143 11818495 CASP3 caspase 3 gene DOID:219 colon cancer disease_progression ISO RGD:731002 D RGD:9068941 20200609 RGD PMID:17805550|REF_RGD_ID:13209142 11818495 CASP3 caspase 3 gene DOID:224 transient cerebral ischemia ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:21712070|REF_RGD_ID:10053706 11818495 CASP3 caspase 3 gene DOID:2316 brain ischemia ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11756504|PMID:17901229 11818495 CASP3 caspase 3 gene DOID:2671 transitional cell carcinoma ISO RGD:731002 D RGD:9068941 20200609 RGD PMID:18172282|REF_RGD_ID:2293093 11818495 CASP3 caspase 3 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:731002 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 11818495 CASP3 caspase 3 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:28496315|REF_RGD_ID:13782303 11818495 CASP3 caspase 3 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:2275 D RGD:9068941 20200609 RGD protein:increased activity:spinal cord PMID:16847061|REF_RGD_ID:2311466 11818495 CASP3 caspase 3 gene DOID:3459 breast carcinoma disease_progression ISO RGD:731002 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:12107344|REF_RGD_ID:2293309 11818495 CASP3 caspase 3 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:21891976|PMID:23143152|PMID:26868427|REF_RGD_ID:10053704|REF_RGD_ID:10054501|REF_RGD_ID:13782346 11818495 CASP3 caspase 3 gene DOID:3602 toxic encephalopathy ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21972528 11818495 CASP3 caspase 3 gene DOID:3669 intermittent claudication ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:23658678|REF_RGD_ID:9586024 11818495 CASP3 caspase 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:731002 D RGD:9068941 20200609 RGD DNA:SNP: :77G>A (human) PMID:20661084|REF_RGD_ID:13434908 11818495 CASP3 caspase 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:731002 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:16231180|REF_RGD_ID:13434909 11818495 CASP3 caspase 3 gene DOID:4079 heart valve disease ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11818495 CASP3 caspase 3 gene DOID:4362 cervical cancer ISO RGD:731002 D RGD:9068941 20200609 RGD PMID:18177927|REF_RGD_ID:2298948 11818495 CASP3 caspase 3 gene DOID:4450 renal cell carcinoma ISO RGD:731002 D RGD:9068941 20200609 RGD PMID:17513560|REF_RGD_ID:2293308 11818495 CASP3 caspase 3 gene DOID:4989 pancreatitis ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:16574987|REF_RGD_ID:2311467 11818495 CASP3 caspase 3 gene DOID:5082 liver cirrhosis ISO RGD:10289 D RGD:9068941 20200609 RGD associated with cholestasis PMID:29105510|REF_RGD_ID:13782297 11818495 CASP3 caspase 3 gene DOID:5199 ureteral obstruction treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29781318|REF_RGD_ID:13782341 11818495 CASP3 caspase 3 gene DOID:5295 intestinal disease ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:24228095|REF_RGD_ID:10058972 11818495 CASP3 caspase 3 gene DOID:5327 retinal detachment ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18497877 11818495 CASP3 caspase 3 gene DOID:5434 scrapie ISO RGD:10289 D RGD:9068941 20200609 RGD PMID:27921253|REF_RGD_ID:13782156 11818495 CASP3 caspase 3 gene DOID:557 kidney disease ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29257007|REF_RGD_ID:13782293 11818495 CASP3 caspase 3 gene DOID:5679 retinal disease ISO RGD:2275 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:18836575|REF_RGD_ID:5490154 11818495 CASP3 caspase 3 gene DOID:5844 myocardial infarction ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25450231 11818495 CASP3 caspase 3 gene DOID:5844 myocardial infarction ameliorates ISO RGD:2275 D RGD:9068941 20230427 RGD PMID:28622474|REF_RGD_ID:329333030 11818495 CASP3 caspase 3 gene DOID:5844 myocardial infarction treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:27904666|REF_RGD_ID:13782309 11818495 CASP3 caspase 3 gene DOID:6000 congestive heart failure treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29746994|REF_RGD_ID:13792577 11818495 CASP3 caspase 3 gene DOID:630 genetic disease ISO RGD:731002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818495 CASP3 caspase 3 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2275 D RGD:9068941 20220714 RGD PMID:29133031|PMID:33841550|REF_RGD_ID:13782296|REF_RGD_ID:152998960 11818495 CASP3 caspase 3 gene DOID:7693 abdominal aortic aneurysm ISO RGD:2275 D RGD:9068941 20201002 RGD protein:increased expression:aorta (rat) PMID:15238617|REF_RGD_ID:1302825 11818495 CASP3 caspase 3 gene DOID:83 cataract treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:23508955|REF_RGD_ID:13782357 11818495 CASP3 caspase 3 gene DOID:8398 osteoarthritis treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29138829|REF_RGD_ID:13782343 11818495 CASP3 caspase 3 gene DOID:8577 ulcerative colitis ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24055189 11818495 CASP3 caspase 3 gene DOID:863 nervous system disease ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12196588 11818495 CASP3 caspase 3 gene DOID:8947 diabetic retinopathy ISO RGD:10289 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:19013511|REF_RGD_ID:2311448 11818495 CASP3 caspase 3 gene DOID:8947 diabetic retinopathy ISO RGD:2275 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expresssion:retina PMID:19187597|REF_RGD_ID:2311444 11818495 CASP3 caspase 3 gene DOID:8947 diabetic retinopathy ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20654064 11818495 CASP3 caspase 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:18378144|PMID:21748659|REF_RGD_ID:10053608|REF_RGD_ID:2293322 11818495 CASP3 caspase 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14588118 11818495 CASP3 caspase 3 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:27256506|PMID:27339639|REF_RGD_ID:13782345|REF_RGD_ID:13792677 11818495 CASP3 caspase 3 gene DOID:9000197 Edema ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19874808 11818495 CASP3 caspase 3 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24602480 11818495 CASP3 caspase 3 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:26163325|REF_RGD_ID:13782347 11818495 CASP3 caspase 3 gene DOID:9000469 Viral Myocarditis ISO RGD:10289 D RGD:9068941 20200609 RGD PMID:21055654|REF_RGD_ID:13702877 11818495 CASP3 caspase 3 gene DOID:9000469 Viral Myocarditis ISO RGD:731002 D RGD:9068941 20200609 RGD PMID:24303754|REF_RGD_ID:13702873 11818495 CASP3 caspase 3 gene DOID:9000469 Viral Myocarditis treatment ISO RGD:10289 D RGD:9068941 20200609 RGD PMID:27184135|PMID:27693786|PMID:29556195|REF_RGD_ID:13702867|REF_RGD_ID:13702870|REF_RGD_ID:13702871 11818495 CASP3 caspase 3 gene DOID:9000469 Viral Myocarditis treatment ISO RGD:731002 D RGD:9068941 20200609 RGD PMID:29977885|REF_RGD_ID:13702866 11818495 CASP3 caspase 3 gene DOID:9000808 Hypercholesterolemia ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:24484682|REF_RGD_ID:13782354 11818495 CASP3 caspase 3 gene DOID:9000855 Experimental Radiation Injuries treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:24939579|REF_RGD_ID:13782350 11818495 CASP3 caspase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731002 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:18064531|REF_RGD_ID:2293306 11818495 CASP3 caspase 3 gene DOID:9000998 Brain Injuries treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:20888848|REF_RGD_ID:10054247 11818495 CASP3 caspase 3 gene DOID:9001390 Testis Reperfusion Injury ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:26754107|REF_RGD_ID:11555349 11818495 CASP3 caspase 3 gene DOID:9001708 Hemorrhagic Shock ISO RGD:2275 D RGD:9068941 20200609 RGD associated with Brain Injuries, Traumatic PMID:29061477|REF_RGD_ID:13782298 11818495 CASP3 caspase 3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2275 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased activity:kidney PMID:19601660|REF_RGD_ID:2311440 11818495 CASP3 caspase 3 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2275 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:29606028|REF_RGD_ID:13792586 11818495 CASP3 caspase 3 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2275 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:28456626|REF_RGD_ID:13782304 11818495 CASP3 caspase 3 gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:22932950|REF_RGD_ID:10054114 11818495 CASP3 caspase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:10289 D RGD:9068941 20200609 RGD PMID:18063461|REF_RGD_ID:2293307 11818495 CASP3 caspase 3 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:10289 D RGD:9068941 20200609 RGD PMID:23833961|REF_RGD_ID:13702874 11818495 CASP3 caspase 3 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:28903333|REF_RGD_ID:13702869 11818495 CASP3 caspase 3 gene DOID:9002467 Mycoplasma Infections ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20179380 11818495 CASP3 caspase 3 gene DOID:9002669 Hypoxia ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:18466900|REF_RGD_ID:2293315 11818495 CASP3 caspase 3 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17971790 11818495 CASP3 caspase 3 gene DOID:9002676 Cerebral Hemorrhage ameliorates ISO RGD:2275 D RGD:9068941 20230504 RGD PMID:31376096|REF_RGD_ID:329337378 11818495 CASP3 caspase 3 gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:28096675|REF_RGD_ID:13782306 11818495 CASP3 caspase 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2275 D RGD:9068941 20200609 RGD protein:increased activity, increased expression:spinal cord PMID:18521931|REF_RGD_ID:2311436 11818495 CASP3 caspase 3 gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:10289 D RGD:9068941 20200609 RGD PMID:18366456|REF_RGD_ID:13209144 11818495 CASP3 caspase 3 gene DOID:9002955 Nerve Degeneration ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14999069 11818495 CASP3 caspase 3 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:23046993|REF_RGD_ID:13782359 11818495 CASP3 caspase 3 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2275 D RGD:9068941 20200609 RGD protein:increased activity:cerebral cortex, hippocampus PMID:18603371|REF_RGD_ID:2311455 11818495 CASP3 caspase 3 gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:2275 D RGD:9068941 20230128 RGD PMID:21189961|PMID:24089674|PMID:27216999|PMID:29635023|REF_RGD_ID:10054502|REF_RGD_ID:13782279|REF_RGD_ID:13782292|REF_RGD_ID:155882465 11818495 CASP3 caspase 3 gene DOID:9004009 Reperfusion Injury ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:18490106|REF_RGD_ID:2293311 11818495 CASP3 caspase 3 gene DOID:9004009 Reperfusion Injury ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23875703 11818495 CASP3 caspase 3 gene DOID:9004009 Reperfusion Injury treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29568770|REF_RGD_ID:13792595 11818495 CASP3 caspase 3 gene DOID:9004332 Osteoarthritis, Experimental treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29621761|REF_RGD_ID:13782275 11818495 CASP3 caspase 3 gene DOID:9004484 Sepsis ISO RGD:731002 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:16003065|PMID:32062619 11818495 CASP3 caspase 3 gene DOID:9004484 Sepsis treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29180187|REF_RGD_ID:13782295 11818495 CASP3 caspase 3 gene DOID:9004590 Acute Liver Failure treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:26238033|REF_RGD_ID:13782174 11818495 CASP3 caspase 3 gene DOID:9004610 Acute Lung Injury ISO RGD:731002 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:32062619 11818495 CASP3 caspase 3 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29755641|REF_RGD_ID:13782288 11818495 CASP3 caspase 3 gene DOID:9005020 Brain Contusion treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:28140659|REF_RGD_ID:13782305 11818495 CASP3 caspase 3 gene DOID:9005233 Experimental Mammary Neoplasms severity ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:20732338|REF_RGD_ID:10053708 11818495 CASP3 caspase 3 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:23404339|PMID:26699876|REF_RGD_ID:10053670|REF_RGD_ID:13782283 11818495 CASP3 caspase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2275 D RGD:9068941 20200609 RGD protein:increased activity:hypothalamus PMID:19094082|REF_RGD_ID:2311447 11818495 CASP3 caspase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20654064 11818495 CASP3 caspase 3 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:28843149|REF_RGD_ID:13782300 11818495 CASP3 caspase 3 gene DOID:9005666 Contrast-Induced Nephropathy treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:27781957|REF_RGD_ID:13782262 11818495 CASP3 caspase 3 gene DOID:9005930 Endotoxemia ISO RGD:2275 D RGD:9068941 20200609 RGD mRNA:increased expression:diaphragm PMID:23940949|REF_RGD_ID:10054120 11818495 CASP3 caspase 3 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:23151253|REF_RGD_ID:10054101 11818495 CASP3 caspase 3 gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 11818495 CASP3 caspase 3 gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:23953793|REF_RGD_ID:10054119 11818495 CASP3 caspase 3 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:28992627|REF_RGD_ID:13782299 11818495 CASP3 caspase 3 gene DOID:9007096 Stroke ISO RGD:2275 D RGD:9068941 20200609 RGD protein:increased activation:cerebral cortex PMID:18463494|REF_RGD_ID:2293316 11818495 CASP3 caspase 3 gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:10289 D RGD:9068941 20230406 RGD associated with myocardial infarction PMID:25726944|REF_RGD_ID:11252030 11818495 CASP3 caspase 3 gene DOID:9007692 Insulin Resistance treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29748970|REF_RGD_ID:13782289 11818495 CASP3 caspase 3 gene DOID:9007730 Burns treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:22153006|REF_RGD_ID:10054126 11818495 CASP3 caspase 3 gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:23946597|REF_RGD_ID:13782356 11818495 CASP3 caspase 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:18470603|REF_RGD_ID:2293314 11818495 CASP3 caspase 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14998631 11818495 CASP3 caspase 3 gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:10289 D RGD:9068941 20230429 RGD PMID:30259997|REF_RGD_ID:329337366 11818495 CASP3 caspase 3 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29538428|REF_RGD_ID:13782276 11818495 CASP3 caspase 3 gene DOID:9008510 Chronic Hepatitis ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 11818495 CASP3 caspase 3 gene DOID:9351 diabetes mellitus ISO RGD:2275 D RGD:9068941 20201105 RGD protein:increased expression:ovary PMID:28412870|REF_RGD_ID:40400904 11818495 CASP3 caspase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15531508 11818495 CASP3 caspase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731002 D RGD:9068941 20200609 RGD protein:increased activity:pancreatic B cell PMID:19100955|REF_RGD_ID:2311446 11818495 CASP3 caspase 3 gene DOID:9408 acute myocardial infarction treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:26550220|REF_RGD_ID:13782284 11818495 CASP3 caspase 3 gene DOID:9743 diabetic neuropathy ISO RGD:2275 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expresssion:sciatic nerve PMID:19555701|REF_RGD_ID:2311441 11818495 CASP3 caspase 3 gene DOID:9743 diabetic neuropathy ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12502508 11818495 CASP3 caspase 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:2275 D RGD:9068941 20200609 RGD protein:increased activity:hippocampus PMID:15855338|REF_RGD_ID:2311451 11818519 MOV10L1 Mov10 like RISC complex RNA helicase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1345883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 11818519 MOV10L1 Mov10 like RISC complex RNA helicase 1 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1345883 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 11818519 MOV10L1 Mov10 like RISC complex RNA helicase 1 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1345883 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:35476666 11818519 MOV10L1 Mov10 like RISC complex RNA helicase 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1345883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11818519 MOV10L1 Mov10 like RISC complex RNA helicase 1 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1345883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 11818519 MOV10L1 Mov10 like RISC complex RNA helicase 1 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1345883 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 11818519 MOV10L1 Mov10 like RISC complex RNA helicase 1 gene DOID:1059 intellectual disability ISO RGD:1345883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11818519 MOV10L1 Mov10 like RISC complex RNA helicase 1 gene DOID:14227 azoospermia ISO RGD:1345883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 11818519 MOV10L1 Mov10 like RISC complex RNA helicase 1 gene DOID:630 genetic disease ISO RGD:1345883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818519 MOV10L1 Mov10 like RISC complex RNA helicase 1 gene DOID:9004961 Spermatogenic Failure 73 ISO RGD:1345883 D RGD:7240710 20220518 OMIM 11818519 MOV10L1 Mov10 like RISC complex RNA helicase 1 gene DOID:9004961 Spermatogenic Failure 73 ISO RGD:1345883 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 73 PMID:25741868|PMID:35476666 11818561 CEACAM1 CEA cell adhesion molecule 1 gene DOID:299 adenocarcinoma ISO RGD:10241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 11818561 CEACAM1 CEA cell adhesion molecule 1 gene DOID:5419 schizophrenia ISO RGD:10241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11818561 CEACAM1 CEA cell adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:10241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818561 CEACAM1 CEA cell adhesion molecule 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:10241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11818561 CEACAM1 CEA cell adhesion molecule 1 gene DOID:9005172 Lung Neoplasms ISO RGD:10241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 11818587 MROH2B maestro heat like repeat family member 2B gene DOID:630 genetic disease ISO RGD:1604530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818587 MROH2B maestro heat like repeat family member 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11818631 EPHB4 EPH receptor B4 gene DOID:0070210 hereditary lymphedema IA ISO RGD:1353692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary lymphedema type I PMID:25741868|PMID:28492532|PMID:28687708|PMID:30760892 11818631 EPHB4 EPH receptor B4 gene DOID:0070212 hereditary lymphedema I ISO RGD:1353692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary lymphedema type I PMID:25741868|PMID:28492532|PMID:28687708|PMID:30760892 11818631 EPHB4 EPH receptor B4 gene DOID:0081030 central conducting lymphatic anomaly ISO RGD:1353692 D RGD:7240710 20190315 OMIM 11818631 EPHB4 EPH receptor B4 gene DOID:0081030 central conducting lymphatic anomaly ISO RGD:1353692 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT | ClinVar Annotator: match by term: Lymphatic malformation 7 PMID:25741868|PMID:27400125|PMID:28492532|PMID:28687708|PMID:29905864|PMID:30578106|PMID:32267001|PMID:33240318 11818631 EPHB4 EPH receptor B4 gene DOID:10316 pneumoconiosis ISO RGD:1353692 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 11818631 EPHB4 EPH receptor B4 gene DOID:11294 arteriovenous malformation ISO RGD:1353692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arteriovenous malformation PMID:25741868|PMID:28687708|PMID:30578106|PMID:30760892 11818631 EPHB4 EPH receptor B4 gene DOID:162 cancer ISO RGD:1353692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cancer 11818631 EPHB4 EPH receptor B4 gene DOID:264 hemangiopericytoma ISO RGD:1353692 D RGD:9068941 20221110 RGD mRNA,protein:decreased expression:anterior temporal lobe PMID:26951238|REF_RGD_ID:155663351 11818631 EPHB4 EPH receptor B4 gene DOID:2975 cystic kidney disease ISO RGD:1617630 D RGD:9068941 20220825 MouseDO 11818631 EPHB4 EPH receptor B4 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:1353692 D RGD:9068941 20220811 RGD mRNA,protein:increased expression:esophagus squamous epithelium (human) PMID:31885720|REF_RGD_ID:153300949 11818631 EPHB4 EPH receptor B4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11818631 EPHB4 EPH receptor B4 gene DOID:630 genetic disease ISO RGD:1353692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11818631 EPHB4 EPH receptor B4 gene DOID:6419 tetralogy of Fallot ISO RGD:1353692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:19597493|PMID:27760138 11818631 EPHB4 EPH receptor B4 gene DOID:9000970 Focal Nodular Hyperplasia ISO RGD:1353692 D RGD:9068941 20221110 RGD mRNA:decreased expression:liver PMID:23870033|REF_RGD_ID:155646133 11818631 EPHB4 EPH receptor B4 gene DOID:9002861 Capillary Malformation-Arteriovenous Malformation 2 ISO RGD:1353692 D RGD:7240710 20190315 OMIM 11818631 EPHB4 EPH receptor B4 gene DOID:9002861 Capillary Malformation-Arteriovenous Malformation 2 ISO RGD:1353692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2 PMID:16199547|PMID:21348050|PMID:25741868|PMID:27400125|PMID:28492532|PMID:28687708|PMID:28730721|PMID:29444212|PMID:29905864|PMID:30578106|PMID:30760892|PMID:30819650 11818631 EPHB4 EPH receptor B4 gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:1583193 D RGD:9068941 20221201 RGD PMID:26670826|REF_RGD_ID:155663663 11818631 EPHB4 EPH receptor B4 gene DOID:9003879 Vein of Galen Aneurysm ISO RGD:1353692 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galen vein aneurysm PMID:30578106 11818631 EPHB4 EPH receptor B4 gene DOID:9005469 Capillary Malformation-Arteriovenous Malformation ISO RGD:1353692 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome PMID:25741868 11818631 EPHB4 EPH receptor B4 gene DOID:9007096 Stroke ISO RGD:1353692 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868 11818631 EPHB4 EPH receptor B4 gene DOID:9008939 Breast Neoplasms ISO RGD:1353692 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23063927 11818654 SPICE1 spindle and centriole associated protein 1 gene DOID:0070166 spermatogenic failure 20 ISO RGD:1606953 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 20 PMID:25741868|PMID:28552195|PMID:29277146|PMID:29449551 11818654 SPICE1 spindle and centriole associated protein 1 gene DOID:630 genetic disease ISO RGD:1606953 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11818689 SETSIP SET like protein gene DOID:9000141 Autosomal Dominant Intellectual Developmental Disorder 58 ISO RGD:6480423 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 58 PMID:25741868 11818694 ST3GAL2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1348054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11818694 ST3GAL2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1348054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11818694 ST3GAL2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 gene DOID:0070262 congenital disorder of glycosylation type IIj ISO RGD:1348054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COG4-CDG PMID:19494034 11818694 ST3GAL2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 gene DOID:630 genetic disease ISO RGD:1348054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818711 TFAP2B transcription factor AP-2 beta gene DOID:0060563 Char syndrome ISO RGD:1314875 D RGD:7240710 20180130 OMIM 11818711 TFAP2B transcription factor AP-2 beta gene DOID:0060563 Char syndrome ISO RGD:1314875 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Char syndrome PMID:10368122|PMID:10802654|PMID:10955477|PMID:11505339|PMID:15684060|PMID:2010091|PMID:20301285|PMID:21643846|PMID:24507797|PMID:25741868|PMID:29555671|PMID:31012281|PMID:31292255|PMID:7645594|PMID:8326495 11818711 TFAP2B transcription factor AP-2 beta gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1314875 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction PMID:25741868 11818711 TFAP2B transcription factor AP-2 beta gene DOID:13550 angle-closure glaucoma ISO RGD:1314876 D RGD:9068941 20220825 MouseDO 11818711 TFAP2B transcription factor AP-2 beta gene DOID:13832 patent ductus arteriosus ISO RGD:1314875 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10802654|PMID:19336370 11818711 TFAP2B transcription factor AP-2 beta gene DOID:13832 patent ductus arteriosus ISO RGD:1314876 D RGD:9068941 20220825 MouseDO OMIM:607411 11818711 TFAP2B transcription factor AP-2 beta gene DOID:13832 patent ductus arteriosus susceptibility ISO RGD:1314875 D RGD:9068941 20200609 RGD Char Syndrome, OMIM:169100;DNA:missense mutations:p.A264D, p.R289C PMID:10802654|REF_RGD_ID:1601543 11818711 TFAP2B transcription factor AP-2 beta gene DOID:630 genetic disease ISO RGD:1314875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15684060|PMID:28492532|PMID:31292255 11818711 TFAP2B transcription factor AP-2 beta gene DOID:9003133 Hypertelorism ISO RGD:1314875 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:10802654|PMID:11505339|PMID:2010091|PMID:25741868 11818711 TFAP2B transcription factor AP-2 beta gene DOID:9003602 Patent Ductus Arteriosus 2 ISO RGD:1314875 D RGD:7240710 20190315 OMIM 11818711 TFAP2B transcription factor AP-2 beta gene DOID:9003602 Patent Ductus Arteriosus 2 ISO RGD:1314875 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Patent ductus arteriosus 2 PMID:15684060|PMID:18752453|PMID:20301285|PMID:21643846 11818711 TFAP2B transcription factor AP-2 beta gene DOID:9004795 Congenital Hand Deformities ISO RGD:1314875 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10802654 11818711 TFAP2B transcription factor AP-2 beta gene DOID:9007633 Body Weight ISO RGD:1314875 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344219 11818711 TFAP2B transcription factor AP-2 beta gene DOID:9007692 Insulin Resistance ISO RGD:1314875 D RGD:9068941 20200609 RGD PMID:16373417|REF_RGD_ID:1601544 11818711 TFAP2B transcription factor AP-2 beta gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1314875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:31292255 11818711 TFAP2B transcription factor AP-2 beta gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1314875 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10802654 11818727 MTRFR mitochondrial translation release factor in rescue gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1605601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 11818727 MTRFR mitochondrial translation release factor in rescue gene DOID:0080068 Charcot-Marie-Tooth disease type 6 ISO RGD:1605601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY AND OPTIC ATROPHY PMID:25741868|PMID:31673878 11818727 MTRFR mitochondrial translation release factor in rescue gene DOID:0110807 hereditary spastic paraplegia 55 ISO RGD:1605601 D RGD:7240710 20180130 OMIM 11818727 MTRFR mitochondrial translation release factor in rescue gene DOID:0110807 hereditary spastic paraplegia 55 ISO RGD:1605601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 55 | ClinVar Annotator: match by term: Spastic paraplegia 55, autosomal recessive PMID:20598281|PMID:23188110|PMID:24080142|PMID:24198383|PMID:24284555|PMID:24424123|PMID:25058219|PMID:25326635|PMID:25741868|PMID:26380172|PMID:26539891|PMID:28091420|PMID:28251916|PMID:28492532|PMID:30369941|PMID:31753091|PMID:32581362|PMID:3479531 11818727 MTRFR mitochondrial translation release factor in rescue gene DOID:0111487 combined oxidative phosphorylation deficiency 7 ISO RGD:1605601 D RGD:7240710 20180130 OMIM 11818727 MTRFR mitochondrial translation release factor in rescue gene DOID:0111487 combined oxidative phosphorylation deficiency 7 ISO RGD:1605601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 PMID:20598281|PMID:23188110|PMID:24033266|PMID:24284555|PMID:24424123|PMID:25058219|PMID:25326635|PMID:25741868|PMID:26380172|PMID:26539891|PMID:27858754|PMID:28091420|PMID:28251916|PMID:28492532|PMID:30369941|PMID:31753091|PMID:32478789|PMID:32581362|PMID:34440436|PMID:34732400 11818727 MTRFR mitochondrial translation release factor in rescue gene DOID:2476 hereditary spastic paraplegia ISO RGD:1605601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 11818727 MTRFR mitochondrial translation release factor in rescue gene DOID:607 paraplegia ISO RGD:1605601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:20598281|PMID:23188110|PMID:24033266|PMID:24284555|PMID:24424123|PMID:25058219|PMID:25741868|PMID:26380172|PMID:27858754|PMID:28091420|PMID:28251916|PMID:28492532|PMID:30369941|PMID:31753091|PMID:34732400 11818727 MTRFR mitochondrial translation release factor in rescue gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1605601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20598281 11818727 MTRFR mitochondrial translation release factor in rescue gene DOID:9001793 Generalized Epilepsy ISO RGD:1605601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:20598281|PMID:25326635|PMID:25741868|PMID:26539891|PMID:32581362 11818727 MTRFR mitochondrial translation release factor in rescue gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11818747 SYT14 synaptotagmin 14 gene DOID:0080063 autosomal recessive spinocerebellar ataxia 11 ISO RGD:1345341 D RGD:7240710 20180130 OMIM 11818747 SYT14 synaptotagmin 14 gene DOID:0080063 autosomal recessive spinocerebellar ataxia 11 ISO RGD:1345341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 11 PMID:21835308|PMID:25741868|PMID:26467025 11818747 SYT14 synaptotagmin 14 gene DOID:1540 parathyroid carcinoma ISO RGD:1345341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11818747 SYT14 synaptotagmin 14 gene DOID:630 genetic disease ISO RGD:1345341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025 11818747 SYT14 synaptotagmin 14 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1345341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11818747 SYT14 synaptotagmin 14 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11818771 SLC2A13 solute carrier family 2 member 13 gene DOID:303 substance-related disorder ISO RGD:731999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11818771 SLC2A13 solute carrier family 2 member 13 gene DOID:630 genetic disease ISO RGD:731999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818786 STIP1 stress induced phosphoprotein 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:733337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11818786 STIP1 stress induced phosphoprotein 1 gene DOID:1059 intellectual disability ISO RGD:733337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11818786 STIP1 stress induced phosphoprotein 1 gene DOID:1909 melanoma ISO RGD:733337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11818786 STIP1 stress induced phosphoprotein 1 gene DOID:3070 high grade glioma ISO RGD:733337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11818786 STIP1 stress induced phosphoprotein 1 gene DOID:630 genetic disease ISO RGD:733337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818786 STIP1 stress induced phosphoprotein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733337 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33766539 11818804 RBM23 RNA binding motif protein 23 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1352302 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11818804 RBM23 RNA binding motif protein 23 gene DOID:630 genetic disease ISO RGD:1352302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818804 RBM23 RNA binding motif protein 23 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1352302 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11818804 RBM23 RNA binding motif protein 23 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1352302 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11818829 SULT1C4 sulfotransferase family 1C member 4 gene DOID:0111201 distal hereditary motor neuronopathy type 7A ISO RGD:1347018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A PMID:28492532 11818829 SULT1C4 sulfotransferase family 1C member 4 gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1347018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant PMID:10431241|PMID:10431242|PMID:18854857|PMID:20979233|PMID:28492532|PMID:28981473 11818829 SULT1C4 sulfotransferase family 1C member 4 gene DOID:630 genetic disease ISO RGD:1347018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818829 SULT1C4 sulfotransferase family 1C member 4 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1347018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:28492532 11818840 LOC100986458 collagen alpha-1(VII) chain gene DOID:630 genetic disease ISO RGD:1602798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818846 SCGB2A2 secretoglobin family 2A member 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1345224 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11818846 SCGB2A2 secretoglobin family 2A member 2 gene DOID:1059 intellectual disability ISO RGD:1345224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11818846 SCGB2A2 secretoglobin family 2A member 2 gene DOID:630 genetic disease ISO RGD:1345224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818859 RASL10A RAS like family 10 member A gene DOID:0111252 neurofibromatosis 2 ISO RGD:1606572 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 11818859 RASL10A RAS like family 10 member A gene DOID:630 genetic disease ISO RGD:1606572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818859 RASL10A RAS like family 10 member A gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 11818866 MICU1 mitochondrial calcium uptake 1 gene DOID:0080000 muscular disease ISO RGD:1353540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24336167 11818866 MICU1 mitochondrial calcium uptake 1 gene DOID:0080600 COVID-19 ISO RGD:1353540 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11818866 MICU1 mitochondrial calcium uptake 1 gene DOID:0111335 myopathy with extrapyramidal signs ISO RGD:1353540 D RGD:7240710 20180130 OMIM 11818866 MICU1 mitochondrial calcium uptake 1 gene DOID:0111335 myopathy with extrapyramidal signs ISO RGD:1353540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Proximal myopathy with extrapyramidal signs PMID:24033266|PMID:24336167|PMID:25741868|PMID:27159402|PMID:28492532|PMID:28708303|PMID:29721912|PMID:29987015|PMID:31618753|PMID:32395406|PMID:33428302 11818866 MICU1 mitochondrial calcium uptake 1 gene DOID:480 movement disease ISO RGD:1353540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24336167 11818866 MICU1 mitochondrial calcium uptake 1 gene DOID:630 genetic disease ISO RGD:1353540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28708303 11818866 MICU1 mitochondrial calcium uptake 1 gene DOID:679 basal ganglia disease ISO RGD:1353540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24336167 11818866 MICU1 mitochondrial calcium uptake 1 gene DOID:8927 learning disability ISO RGD:1353540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24336167 11818866 MICU1 mitochondrial calcium uptake 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353540 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28708303 11818866 MICU1 mitochondrial calcium uptake 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1353540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:24336167|PMID:25741868|PMID:28492532|PMID:29721912|PMID:33428302 11818887 SPRY2 sprouty RTK signaling antagonist 2 gene DOID:0060340 ciliopathy ISO RGD:1322950 D RGD:9068941 20220825 MouseDO 11818887 SPRY2 sprouty RTK signaling antagonist 2 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1322949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11818887 SPRY2 sprouty RTK signaling antagonist 2 gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1322950 D RGD:9068941 20220825 MouseDO OMIM:243180 | OMIM:601223 11818887 SPRY2 sprouty RTK signaling antagonist 2 gene DOID:0080600 COVID-19 ISO RGD:1322949 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11818887 SPRY2 sprouty RTK signaling antagonist 2 gene DOID:2986 IgA glomerulonephritis ISO RGD:1322949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: IgA nephropathy, susceptibility to, 3 PMID:25741868|PMID:25741914|PMID:25782674 11818887 SPRY2 sprouty RTK signaling antagonist 2 gene DOID:2986 IgA glomerulonephritis susceptibility ISO RGD:1322949 D RGD:7240710 20190502 OMIM 11818887 SPRY2 sprouty RTK signaling antagonist 2 gene DOID:630 genetic disease ISO RGD:1322949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818887 SPRY2 sprouty RTK signaling antagonist 2 gene DOID:674 cleft palate ISO RGD:1322949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17576140 11818887 SPRY2 sprouty RTK signaling antagonist 2 gene DOID:850 lung disease ISO RGD:1322949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24210189 11818887 SPRY2 sprouty RTK signaling antagonist 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1322949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15136453 11818887 SPRY2 sprouty RTK signaling antagonist 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1322949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17576140 11818887 SPRY2 sprouty RTK signaling antagonist 2 gene DOID:9164 achalasia ISO RGD:1322950 D RGD:9068941 20220825 MouseDO OMIM:200400 11818887 SPRY2 sprouty RTK signaling antagonist 2 gene DOID:9296 cleft lip ISO RGD:1322949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17576140 11818896 VSIG2 V-set and immunoglobulin domain containing 2 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1344618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11818896 VSIG2 V-set and immunoglobulin domain containing 2 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1344618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11818896 VSIG2 V-set and immunoglobulin domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1344618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11818896 VSIG2 V-set and immunoglobulin domain containing 2 gene DOID:630 genetic disease ISO RGD:1344618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818896 VSIG2 V-set and immunoglobulin domain containing 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1344618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11818896 VSIG2 V-set and immunoglobulin domain containing 2 gene DOID:9007661 Dwarfism ISO RGD:1344618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11818912 PRKCG protein kinase C gamma gene DOID:0050753 cerebellar ataxia ISO RGD:732858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia 11818912 PRKCG protein kinase C gamma gene DOID:0050951 hereditary ataxia ISO RGD:732858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary ataxia PMID:25741868 11818912 PRKCG protein kinase C gamma gene DOID:0050964 spinocerebellar ataxia type 14 ISO RGD:732858 D RGD:7240710 20180130 OMIM 11818912 PRKCG protein kinase C gamma gene DOID:0050964 spinocerebellar ataxia type 14 ISO RGD:732858 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 14 PMID:12164726|PMID:12644968|PMID:14676051|PMID:14694043|PMID:15313841|PMID:15618281|PMID:15824357|PMID:15841389|PMID:15964845|PMID:16189624|PMID:16193476|PMID:16547918|PMID:16649092|PMID:16763984|PMID:17024314|PMID:17344846|PMID:17562946|PMID:17659643|PMID:18005063|PMID:18499672|PMID:18577575|PMID:19561170|PMID:20301573|PMID:21434874|PMID:21666345|PMID:21937992|PMID:24134140|PMID:24744737|PMID:24937631|PMID:25217572|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28738819|PMID:30093405|PMID:30363848|PMID:9545390 11818912 PRKCG protein kinase C gamma gene DOID:0090063 familial cold autoinflammatory syndrome 2 ISO RGD:732858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 PMID:28492532 11818912 PRKCG protein kinase C gamma gene DOID:10584 retinitis pigmentosa ISO RGD:11147 D RGD:9068941 20200609 RGD PMID:9545390|REF_RGD_ID:737791 11818912 PRKCG protein kinase C gamma gene DOID:1059 intellectual disability ISO RGD:732858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11818912 PRKCG protein kinase C gamma gene DOID:12098 trigeminal neuralgia ISO RGD:732858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 11818912 PRKCG protein kinase C gamma gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:732858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia 11818912 PRKCG protein kinase C gamma gene DOID:3525 middle cerebral artery infarction ISO RGD:732858 D RGD:9068941 20200609 RGD PMID:14688616|REF_RGD_ID:1358416 11818912 PRKCG protein kinase C gamma gene DOID:630 genetic disease ISO RGD:732858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 11818912 PRKCG protein kinase C gamma gene DOID:9000039 Spinal Cord Injuries ISO RGD:11147 D RGD:9068941 20200813 RGD protein:decreased expression:spinal cord (mouse) PMID:10501452|REF_RGD_ID:28867228 11818912 PRKCG protein kinase C gamma gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:732858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20398063 11818912 PRKCG protein kinase C gamma gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:732858 D RGD:9068941 20200609 RGD DNA:missense mutations:cds: (human) PMID:12644968|REF_RGD_ID:737790 11818912 PRKCG protein kinase C gamma gene DOID:9002211 Hyperalgesia ISO RGD:732858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19955894|PMID:27093858 11818912 PRKCG protein kinase C gamma gene DOID:9002211 Hyperalgesia treatment ISO RGD:732858 D RGD:9068941 20200813 RGD PMID:12560106|REF_RGD_ID:28867224 11818912 PRKCG protein kinase C gamma gene DOID:9006205 Animal Disease Models ISO RGD:732858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 11818912 PRKCG protein kinase C gamma gene DOID:9277 primary cerebellar degeneration ISO RGD:732858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary ataxia PMID:25741868 11818934 ATP6V1F ATPase H+ transporting V1 subunit F gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1351850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 PMID:28492532 11818934 ATP6V1F ATPase H+ transporting V1 subunit F gene DOID:0080600 COVID-19 ISO RGD:1351850 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11818934 ATP6V1F ATPase H+ transporting V1 subunit F gene DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 ISO RGD:1351850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F PMID:28492532 11818934 ATP6V1F ATPase H+ transporting V1 subunit F gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11818934 ATP6V1F ATPase H+ transporting V1 subunit F gene DOID:630 genetic disease ISO RGD:1351850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818940 DPPA4 developmental pluripotency associated 4 gene DOID:10283 prostate cancer ISO RGD:1343152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11818951 SUN3 Sad1 and UNC84 domain containing 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11818951 SUN3 Sad1 and UNC84 domain containing 3 gene DOID:630 genetic disease ISO RGD:1352324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818966 CD99 CD99 molecule (Xg blood group) gene DOID:12849 autistic disorder ISO RGD:1344139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11818966 CD99 CD99 molecule (Xg blood group) gene DOID:3369 Ewing sarcoma ISO RGD:1344139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CD99 Positive Neoplastic Cells Present PMID:25741868 11818966 CD99 CD99 molecule (Xg blood group) gene DOID:4545 mesenchymal chondrosarcoma ISO RGD:1344139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12817616 11818985 OXCT2 3-oxoacid CoA-transferase 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1315859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11818985 OXCT2 3-oxoacid CoA-transferase 2 gene DOID:630 genetic disease ISO RGD:1315859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11818990 ZCRB1 zinc finger CCHC-type and RNA binding motif containing 1 gene DOID:630 genetic disease ISO RGD:1604568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819002 DSC2 desmocollin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1319763 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:17033975|PMID:17186466|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20197793|PMID:20400443|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21859740|PMID:23147450|PMID:23299917|PMID:23396983|PMID:23757202|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24503780|PMID:24704780|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25447171|PMID:25569433|PMID:25637381|PMID:25741868|PMID:26138720|PMID:26332594|PMID:26656175|PMID:26743238|PMID:27153395|PMID:28255936|PMID:28471438|PMID:28492532|PMID:28798025|PMID:29367541|PMID:29802319|PMID:31024045|PMID:31042466|PMID:31333075|PMID:31402444|PMID:31568572|PMID:7971964 11819002 DSC2 desmocollin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy susceptibility ISO RGD:1319763 D RGD:9068941 20230420 RGD DNA:SNP:exon 11: c.1660C>T, p.Gln554X (human) PMID:25497880|REF_RGD_ID:243065272 11819002 DSC2 desmocollin 2 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis PMID:28492532 11819002 DSC2 desmocollin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1319763 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:16199547|PMID:17033975|PMID:17186466|PMID:17363426|PMID:17576681|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:22722193|PMID:23147450|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23757202|PMID:23812740|PMID:23826350|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24503780|PMID:24704780|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25569433|PMID:25576714|PMID:25637381|PMID:25741868|PMID:25819062|PMID:26138720|PMID:26220970|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26780541|PMID:27000522|PMID:27153395|PMID:27532257|PMID:27884173|PMID:27930701|PMID:28166811|PMID:28255936|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28798025|PMID:29032884|PMID:29367541|PMID:29641836|PMID:29802319|PMID:30790397|PMID:30847666|PMID:31333075|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31970460|PMID:31983221|PMID:32665702|PMID:32853555|PMID:32880476|PMID:33087929|PMID:33684294|PMID:34135346|PMID:7971964|PMID:9536098 11819002 DSC2 desmocollin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1319763 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:16199547|PMID:17033975|PMID:17186466|PMID:17363426|PMID:17576681|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:22722193|PMID:23147450|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23671136|PMID:23757202|PMID:23810894|PMID:23812740|PMID:23826350|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25569433|PMID:25576714|PMID:25637381|PMID:25741868|PMID:25819062|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26768331|PMID:26780541|PMID:27000522|PMID:27153395|PMID:27532257|PMID:27884173|PMID:27930701|PMID:28166811|PMID:28255936|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28588093|PMID:28798025|PMID:29032884|PMID:29255176|PMID:29367541|PMID:29590070|PMID:29641836|PMID:29750433|PMID:29802319|PMID:29970176|PMID:30122538|PMID:30790397|PMID:30847666|PMID:31042466|PMID:31333075|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31970460|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32665702|PMID:32853555|PMID:32880476|PMID:33087929|PMID:33652588|PMID:33662488|PMID:33684294|PMID:34135346|PMID:35276540|PMID:35470680|PMID:36293497|PMID:7971964|PMID:9536098 11819002 DSC2 desmocollin 2 gene DOID:0060319 cardiac arrest ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:18678517|PMID:23861362|PMID:24033266|PMID:24704780|PMID:25637381|PMID:25741868|PMID:27153395|PMID:28492532 11819002 DSC2 desmocollin 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:17033975|PMID:20031616|PMID:20031617|PMID:20197793|PMID:20400443|PMID:20716751|PMID:20829228|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21859740|PMID:23299917|PMID:23757202|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24967631|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:28255936|PMID:28492532|PMID:7971964 11819002 DSC2 desmocollin 2 gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:1319763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:19863551|PMID:23299917|PMID:25637381|PMID:25741868|PMID:28492532 11819002 DSC2 desmocollin 2 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 11819002 DSC2 desmocollin 2 gene DOID:0110082 arrhythmogenic right ventricular dysplasia 11 ISO RGD:1319763 D RGD:7240710 20180130 OMIM 11819002 DSC2 desmocollin 2 gene DOID:0110082 arrhythmogenic right ventricular dysplasia 11 ISO RGD:1319763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair PMID:16199547|PMID:17033975|PMID:17186466|PMID:17363426|PMID:17576681|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21220045|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:22458570|PMID:22722193|PMID:23147450|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23757202|PMID:23810894|PMID:23812740|PMID:23826350|PMID:23861362|PMID:23863954|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25447171|PMID:25497880|PMID:25516398|PMID:25525159|PMID:25569433|PMID:25576714|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25819062|PMID:25820315|PMID:25825460|PMID:26138720|PMID:26220970|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26768331|PMID:26780541|PMID:27000522|PMID:27153395|PMID:27532257|PMID:27884173|PMID:27930701|PMID:28069705|PMID:28153106|PMID:28166811|PMID:28255936|PMID:28288337|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28588093|PMID:28600387|PMID:28798025|PMID:29032884|PMID:29178656|PMID:29255176|PMID:29367541|PMID:29590070|PMID:29641836|PMID:29750433|PMID:29802319|PMID:30122538|PMID:30790397|PMID:30847666|PMID:31024045|PMID:31333075|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31484862|PMID:31534214|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31931689|PMID:31970460|PMID:31983221|PMID:32009526|PMID:32665702|PMID:32746448|PMID:32853555|PMID:32880476|PMID:33087929|PMID:33258288|PMID:33652588|PMID:33662488|PMID:33684294|PMID:33784018|PMID:34135346|PMID:35276540|PMID:7971964|PMID:9536098 11819002 DSC2 desmocollin 2 gene DOID:0110082 arrhythmogenic right ventricular dysplasia 11 ISO RGD:1319763 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair PMID:16199547|PMID:17033975|PMID:17186466|PMID:17363426|PMID:17576681|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21220045|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:22722193|PMID:23147450|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23757202|PMID:23810894|PMID:23812740|PMID:23826350|PMID:23861362|PMID:23863954|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25447171|PMID:25497880|PMID:25516398|PMID:25525159|PMID:25569433|PMID:25576714|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25819062|PMID:25820315|PMID:25825460|PMID:26138720|PMID:26220970|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26768331|PMID:26780541|PMID:27000522|PMID:27153395|PMID:27532257|PMID:27884173|PMID:27930701|PMID:28069705|PMID:28153106|PMID:28166811|PMID:28255936|PMID:28288337|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28588093|PMID:28600387|PMID:28798025|PMID:29032884|PMID:29178656|PMID:29255176|PMID:29367541|PMID:29590070|PMID:29641836|PMID:29750433|PMID:29802319|PMID:29970176|PMID:30122538|PMID:30790397|PMID:30847666|PMID:31024045|PMID:31042466|PMID:31333075|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31484862|PMID:31534214|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31931689|PMID:31970460|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32665702|PMID:32746448|PMID:32853555|PMID:32880476|PMID:33087929|PMID:33258288|PMID:33652588|PMID:33662488|PMID:33684294|PMID:33784018|PMID:34135346|PMID:35276540|PMID:35470680|PMID:36293497|PMID:7971964|PMID:9536098 11819002 DSC2 desmocollin 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:17033975|PMID:20031616|PMID:20031617|PMID:20197793|PMID:20400443|PMID:20716751|PMID:20829228|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21859740|PMID:23299917|PMID:23757202|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24967631|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:28255936|PMID:28492532|PMID:7971964 11819002 DSC2 desmocollin 2 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1319763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:16199547|PMID:23911551|PMID:24033266|PMID:25741868|PMID:28153106|PMID:28492532|PMID:31931689|PMID:33662488 11819002 DSC2 desmocollin 2 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:28492532 11819002 DSC2 desmocollin 2 gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1319763 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:25741868|PMID:28492532 11819002 DSC2 desmocollin 2 gene DOID:1059 intellectual disability ISO RGD:1319763 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11819002 DSC2 desmocollin 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1319763 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:20031617|PMID:20152563|PMID:20400443|PMID:20716751|PMID:20857253|PMID:21606396|PMID:21636032|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:27930701|PMID:28492532|PMID:29255176|PMID:30790397|PMID:31970460 11819002 DSC2 desmocollin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 11819002 DSC2 desmocollin 2 gene DOID:2843 long QT syndrome ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11819002 DSC2 desmocollin 2 gene DOID:630 genetic disease ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11819002 DSC2 desmocollin 2 gene DOID:9002348 Primary Pigmented Nodular Adrenocortical Disease, 2 ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 2 PMID:23911551|PMID:25741868|PMID:28492532 11819002 DSC2 desmocollin 2 gene DOID:9003936 Cardiomegaly ISO RGD:1309426 D RGD:9068941 20230420 RGD protein:increased expression:heart (rat) PMID:26708424|REF_RGD_ID:264347602 11819002 DSC2 desmocollin 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy 11819002 DSC2 desmocollin 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1319763 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11819002 DSC2 desmocollin 2 gene DOID:9008121 Lipoyltransferase 1 Deficiency ISO RGD:1319763 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency PMID:25637381|PMID:25741868|PMID:26656175|PMID:28492532|PMID:28798025|PMID:31042466 11819002 DSC2 desmocollin 2 gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:1309426 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 11819027 PLSCR5 phospholipid scramblase family member 5 gene DOID:630 genetic disease ISO RGD:1349492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819043 ABHD16A abhydrolase domain containing 16A, phospholipase gene DOID:0050553 JMP syndrome ISO RGD:1351609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11819043 ABHD16A abhydrolase domain containing 16A, phospholipase gene DOID:0112342 hereditary spastic paraplegia 86 ISO RGD:1351609 D RGD:7240710 20220223 OMIM 11819043 ABHD16A abhydrolase domain containing 16A, phospholipase gene DOID:0112342 hereditary spastic paraplegia 86 ISO RGD:1351609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 86, autosomal recessive PMID:25741868|PMID:34587489|PMID:34866177 11819043 ABHD16A abhydrolase domain containing 16A, phospholipase gene DOID:11372 megacolon ISO RGD:1351609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11819043 ABHD16A abhydrolase domain containing 16A, phospholipase gene DOID:2476 hereditary spastic paraplegia ISO RGD:1351609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia | ClinVar Annotator: match by term: Complex hereditary spastic paraplegia PMID:25741868 11819043 ABHD16A abhydrolase domain containing 16A, phospholipase gene DOID:607 paraplegia ISO RGD:1351609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:34587489 11819043 ABHD16A abhydrolase domain containing 16A, phospholipase gene DOID:630 genetic disease ISO RGD:1351609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819043 ABHD16A abhydrolase domain containing 16A, phospholipase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351609 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11819081 ARL2 ADP ribosylation factor like GTPase 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:735885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11819081 ARL2 ADP ribosylation factor like GTPase 2 gene DOID:1059 intellectual disability ISO RGD:735885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11819081 ARL2 ADP ribosylation factor like GTPase 2 gene DOID:1909 melanoma ISO RGD:735885 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11819081 ARL2 ADP ribosylation factor like GTPase 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:735885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11819081 ARL2 ADP ribosylation factor like GTPase 2 gene DOID:2746 glycogen storage disease V ISO RGD:735885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11819081 ARL2 ADP ribosylation factor like GTPase 2 gene DOID:3070 high grade glioma ISO RGD:735885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11819081 ARL2 ADP ribosylation factor like GTPase 2 gene DOID:630 genetic disease ISO RGD:735885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819081 ARL2 ADP ribosylation factor like GTPase 2 gene DOID:9008938 Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 ISO RGD:735885 D RGD:7240710 20201111 OMIM 11819081 ARL2 ADP ribosylation factor like GTPase 2 gene DOID:9008938 Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 ISO RGD:735885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 PMID:30945270 11819113 KIAA1614 KIAA1614 ortholog gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1605647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 11819113 KIAA1614 KIAA1614 ortholog gene DOID:1540 parathyroid carcinoma ISO RGD:1605647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11819113 KIAA1614 KIAA1614 ortholog gene DOID:630 genetic disease ISO RGD:1605647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819113 KIAA1614 KIAA1614 ortholog gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1605647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11819113 KIAA1614 KIAA1614 ortholog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11819127 STARD7 StAR related lipid transfer domain containing 7 gene DOID:0111692 familial adult myoclonic epilepsy 2 ISO RGD:1316908 D RGD:7240710 20191127 OMIM 11819127 STARD7 StAR related lipid transfer domain containing 7 gene DOID:0111692 familial adult myoclonic epilepsy 2 ISO RGD:1316908 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2 PMID:25741868 11819127 STARD7 StAR related lipid transfer domain containing 7 gene DOID:1059 intellectual disability ISO RGD:1316908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11819127 STARD7 StAR related lipid transfer domain containing 7 gene DOID:5419 schizophrenia ISO RGD:1316908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11819127 STARD7 StAR related lipid transfer domain containing 7 gene DOID:630 genetic disease ISO RGD:1316908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819139 TMEM62 transmembrane protein 62 gene DOID:2717 Bloom syndrome ISO RGD:1605041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11819139 TMEM62 transmembrane protein 62 gene DOID:630 genetic disease ISO RGD:1605041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819139 TMEM62 transmembrane protein 62 gene DOID:9256 colorectal cancer ISO RGD:1605041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11819157 SLC22A15 solute carrier family 22 member 15 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1322509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 11819157 SLC22A15 solute carrier family 22 member 15 gene DOID:630 genetic disease ISO RGD:1322509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819157 SLC22A15 solute carrier family 22 member 15 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1322509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 11819176 CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:731676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11819176 CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 gene DOID:0070040 autosomal dominant intellectual developmental disorder 10 ISO RGD:731676 D RGD:7240710 20180130 OMIM 11819176 CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 gene DOID:0070040 autosomal dominant intellectual developmental disorder 10 ISO RGD:731676 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 10 PMID:21376300|PMID:25741868 11819176 CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 gene DOID:1825 childhood absence epilepsy ISO RGD:71095 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:somatosensory cortex, primary motor cortex PMID:18556211|REF_RGD_ID:13524553 11819176 CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 gene DOID:1826 epilepsy ISO RGD:731676 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11819176 CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 gene DOID:3070 high grade glioma ISO RGD:731676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11819176 CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 gene DOID:630 genetic disease ISO RGD:731676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11819176 CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731676 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11819203 STN1 STN1 subunit of CST complex gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1313785 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23583980 11819203 STN1 STN1 subunit of CST complex gene DOID:1909 melanoma ISO RGD:1313785 D RGD:9068941 20220610 RGD DNA:SNP:cds:rs9420907|rs2995264 (human) PMID:25231748|REF_RGD_ID:152995261 11819203 STN1 STN1 subunit of CST complex gene DOID:4001 ovarian carcinoma ISO RGD:1313785 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28346442 11819203 STN1 STN1 subunit of CST complex gene DOID:630 genetic disease ISO RGD:1313785 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11819203 STN1 STN1 subunit of CST complex gene DOID:9003025 Cerebroretinal Microangiopathy with Calcifications and Cysts ISO RGD:1313785 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11819203 STN1 STN1 subunit of CST complex gene DOID:9005172 Lung Neoplasms ISO RGD:1313785 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28604730 11819203 STN1 STN1 subunit of CST complex gene DOID:9005983 Cerebroretinal Microangiopathy with Calcifications and Cysts 2 ISO RGD:1313785 D RGD:7240710 20190315 OMIM 11819203 STN1 STN1 subunit of CST complex gene DOID:9005983 Cerebroretinal Microangiopathy with Calcifications and Cysts 2 ISO RGD:1313785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 PMID:25741868|PMID:27432940|PMID:28492532 11819221 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1320598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:25741868 11819221 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:0110347 osteogenesis imperfecta type 15 ISO RGD:1320598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 15 PMID:25741868 11819221 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1320598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:28492532|PMID:31680123 11819221 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:1389 polyneuropathy ISO RGD:1320598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:25741868 11819221 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:2747 glycogen storage disease ISO RGD:1320598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease PMID:15452297|PMID:16199547|PMID:17662246|PMID:19813197|PMID:20058079|PMID:22305237|PMID:23218673|PMID:23352160|PMID:24033266|PMID:25489661|PMID:25741868|PMID:26166723|PMID:26886200|PMID:28492532|PMID:28507268|PMID:29379554|PMID:30569318 11819221 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:2750 glycogen storage disease IV ISO RGD:1320598 D RGD:7240710 20180130 OMIM 11819221 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:2750 glycogen storage disease IV ISO RGD:1320598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type IV PMID:10384399|PMID:10545044|PMID:10762170|PMID:11949934|PMID:12874416|PMID:12913206|PMID:15019703|PMID:15452297|PMID:15520786|PMID:16199547|PMID:16278887|PMID:16528737|PMID:16874838|PMID:17576681|PMID:17662246|PMID:17915577|PMID:17994551|PMID:18230843|PMID:18661138|PMID:19438752|PMID:19763152|PMID:19813197|PMID:20058079|PMID:20301758|PMID:20307669|PMID:20479904|PMID:20655781|PMID:21075835|PMID:21917543|PMID:22106711|PMID:22305237|PMID:22406018|PMID:22899091|PMID:23034915|PMID:23218673|PMID:23266647|PMID:23352160|PMID:23607684|PMID:24033266|PMID:24082139|PMID:24248152|PMID:25133958|PMID:25356970|PMID:25489661|PMID:25525159|PMID:25544507|PMID:25640679|PMID:25665141|PMID:25728520|PMID:25741868|PMID:26147564|PMID:26166723|PMID:26199317|PMID:26385640|PMID:26670585|PMID:26752647|PMID:26789422|PMID:26886200|PMID:27107456|PMID:27243974|PMID:27528516|PMID:27546458|PMID:27747161|PMID:28492532|PMID:28507268|PMID:28716262|PMID:28973083|PMID:29379554|PMID:30228975|PMID:30293248|PMID:30311141|PMID:30345254|PMID:30569318|PMID:31207142|PMID:31209396|PMID:31319225|PMID:31589614|PMID:31680123|PMID:31747834|PMID:31980526|PMID:32455116|PMID:33060286|PMID:33141444|PMID:33332610|PMID:33344388|PMID:33517539|PMID:33782433|PMID:34426522|PMID:34946936|PMID:8247964|PMID:8613547|PMID:9536098|PMID:9851430 11819221 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:1320598 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs2307058 (human) PMID:28355295|REF_RGD_ID:18337291 11819221 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:630 genetic disease ISO RGD:1320598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10762170|PMID:11949934|PMID:20058079|PMID:20301758|PMID:24248152|PMID:25356970|PMID:25728520|PMID:25741868|PMID:26147564|PMID:26199317|PMID:28492532|PMID:33782433|PMID:8613547 11819221 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:9000820 GSD IV, Classic Hepatic ISO RGD:1320598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GSD IV, CLASSIC HEPATIC PMID:10384399|PMID:10762170|PMID:11949934|PMID:15452297|PMID:16199547|PMID:16528737|PMID:17576681|PMID:17662246|PMID:20058079|PMID:20301758|PMID:20655781|PMID:22106711|PMID:22305237|PMID:23034915|PMID:23607684|PMID:24082139|PMID:24248152|PMID:25133958|PMID:25356970|PMID:25525159|PMID:25665141|PMID:25741868|PMID:26147564|PMID:26166723|PMID:26199317|PMID:26385640|PMID:26886200|PMID:27243974|PMID:27546458|PMID:27747161|PMID:28492532|PMID:29379554|PMID:30228975|PMID:31589614|PMID:33060286|PMID:33141444|PMID:33332610|PMID:8613547|PMID:9536098|PMID:9851430 11819221 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:9001038 GSD IV, Neuromuscular Form, Congenital ISO RGD:1320598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GSD IV, NEUROMUSCULAR FORM, CONGENITAL PMID:15019703|PMID:15452297|PMID:16528737|PMID:17576681|PMID:17662246|PMID:17915577|PMID:20058079|PMID:22305237|PMID:25741868|PMID:26199317|PMID:27546458|PMID:28492532|PMID:29379554|PMID:30228975|PMID:31589614|PMID:33060286|PMID:33141444|PMID:8059607|PMID:8613547|PMID:9536098 11819221 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:9001655 GSD IV, Neuromuscular Form, Childhood ISO RGD:1320598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GSD IV, NEUROMUSCULAR FORM, CHILDHOOD PMID:15452297|PMID:20058079|PMID:25525159|PMID:25741868|PMID:26166723|PMID:26886200|PMID:27243974|PMID:28492532|PMID:33332610|PMID:8613547 11819221 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:9006655 GSD IV, Neuromuscular Form, Fatal Perinatal ISO RGD:1320598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gsd IV, neuromuscular form, fatal perinatal PMID:10384399|PMID:15452297|PMID:16199547|PMID:20058079|PMID:28492532|PMID:8247964 11819221 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:9006915 GSD IV, combined hepatic and myopathic ISO RGD:1320598 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IV, combined hepatic and myopathic PMID:10545044|PMID:10762170|PMID:12874416|PMID:15452297|PMID:20301758|PMID:20479904|PMID:25741868|PMID:28492532 11819221 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:9007497 Polyglucosan Body Disease, Adult Form ISO RGD:1320598 D RGD:7240710 20180130 OMIM 11819221 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:9007497 Polyglucosan Body Disease, Adult Form ISO RGD:1320598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adult polyglucosan body disease | ClinVar Annotator: match by term: Adult polyglucosan body neuropathy | ClinVar Annotator: match by term: Polyglucosan body disease, adult form PMID:10545044|PMID:10762170|PMID:11949934|PMID:12874416|PMID:15452297|PMID:16199547|PMID:16528737|PMID:17576681|PMID:17662246|PMID:19813197|PMID:20058079|PMID:20301758|PMID:20479904|PMID:20655781|PMID:22106711|PMID:22305237|PMID:23034915|PMID:23218673|PMID:23266647|PMID:23352160|PMID:23607684|PMID:24033266|PMID:24082139|PMID:24248152|PMID:25133958|PMID:25489661|PMID:25525159|PMID:25665141|PMID:25741868|PMID:26166723|PMID:26199317|PMID:26385640|PMID:26670585|PMID:26789422|PMID:26886200|PMID:27107456|PMID:27243974|PMID:27528516|PMID:27747161|PMID:28492532|PMID:28507268|PMID:28716262|PMID:29379554|PMID:30228975|PMID:30293248|PMID:30569318|PMID:31207142|PMID:31209396|PMID:31319225|PMID:31680123|PMID:31980526|PMID:32455116|PMID:33141444|PMID:33332610|PMID:33782433|PMID:34426522|PMID:34946936|PMID:8613547|PMID:9536098|PMID:9851430 11819221 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:9007811 Familial Cirrhosis with Deposition of Abnormal Glycogen ISO RGD:1320598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cirrhosis, familial, with deposition of abnormal glycogen PMID:10384399|PMID:10762170|PMID:11949934|PMID:15019703|PMID:15452297|PMID:16199547|PMID:16528737|PMID:17576681|PMID:17662246|PMID:20058079|PMID:20301758|PMID:20655781|PMID:22106711|PMID:22305237|PMID:23034915|PMID:23607684|PMID:24082139|PMID:24248152|PMID:25133958|PMID:25356970|PMID:25525159|PMID:25665141|PMID:25741868|PMID:26147564|PMID:26166723|PMID:26199317|PMID:26385640|PMID:26886200|PMID:27243974|PMID:27546458|PMID:27747161|PMID:28492532|PMID:29379554|PMID:30228975|PMID:31589614|PMID:33060286|PMID:33141444|PMID:33332610|PMID:8247964|PMID:8613547|PMID:9536098|PMID:9851430 11819246 TIMM10B translocase of inner mitochondrial membrane 10B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11819246 TIMM10B translocase of inner mitochondrial membrane 10B gene DOID:630 genetic disease ISO RGD:736128 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819253 ACTN3 actinin alpha 3 gene DOID:1059 intellectual disability ISO RGD:734136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11819253 ACTN3 actinin alpha 3 gene DOID:630 genetic disease ISO RGD:734136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819253 ACTN3 actinin alpha 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:734136 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11819253 ACTN3 actinin alpha 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:734136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11819278 EFR3B EFR3 homolog B gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1602224 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 11819278 EFR3B EFR3 homolog B gene DOID:630 genetic disease ISO RGD:1602224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819309 MNS1 meiosis specific nuclear structural 1 gene DOID:2717 Bloom syndrome ISO RGD:1605067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11819309 MNS1 meiosis specific nuclear structural 1 gene DOID:630 genetic disease ISO RGD:1605067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819309 MNS1 meiosis specific nuclear structural 1 gene DOID:9003544 Visceral Heterotaxy 9, Autosomal ISO RGD:1605067 D RGD:7240710 20200812 OMIM 11819309 MNS1 meiosis specific nuclear structural 1 gene DOID:9003544 Visceral Heterotaxy 9, Autosomal ISO RGD:1605067 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 9, autosomal, with male infertility PMID:25741868|PMID:28492532|PMID:30148830|PMID:31534215 11819309 MNS1 meiosis specific nuclear structural 1 gene DOID:9256 colorectal cancer ISO RGD:1605067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11819327 RSPO4 R-spondin 4 gene DOID:0080082 nonsyndromic congenital nail disorder 4 ISO RGD:1344766 D RGD:7240710 20190123 OMIM 11819327 RSPO4 R-spondin 4 gene DOID:0080082 nonsyndromic congenital nail disorder 4 ISO RGD:1344766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anonychia PMID:17041604|PMID:17186469|PMID:17914448|PMID:18070203|PMID:4702713 11819327 RSPO4 R-spondin 4 gene DOID:630 genetic disease ISO RGD:1344766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819339 SETBP1 SET binding protein 1 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1314725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23832011|PMID:26457647 11819339 SETBP1 SET binding protein 1 gene DOID:0060058 lymphoma ISO RGD:1314725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoma 11819339 SETBP1 SET binding protein 1 gene DOID:0060356 Vici syndrome ISO RGD:1314725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 11819339 SETBP1 SET binding protein 1 gene DOID:0060597 atypical chronic myeloid leukemia ISO RGD:1314725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23222956 11819339 SETBP1 SET binding protein 1 gene DOID:0070059 autosomal dominant intellectual developmental disorder 29 ISO RGD:1314725 D RGD:7240710 20180130 OMIM 11819339 SETBP1 SET binding protein 1 gene DOID:0070059 autosomal dominant intellectual developmental disorder 29 ISO RGD:1314725 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 29 PMID:16199547|PMID:18414213|PMID:20436468|PMID:21037274|PMID:23222956|PMID:25028416|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:25852444|PMID:26350204|PMID:26467025|PMID:27824329|PMID:28346496|PMID:28492532|PMID:31332282|PMID:31680123|PMID:32460883|PMID:33391157|PMID:34782754 11819339 SETBP1 SET binding protein 1 gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:1314725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:18398855|PMID:18414213|PMID:20436468|PMID:21371013|PMID:23222956|PMID:25741868|PMID:28492532 11819339 SETBP1 SET binding protein 1 gene DOID:0110823 hereditary spastic paraplegia 8 ISO RGD:1314725 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 PMID:25741868|PMID:28492532 11819339 SETBP1 SET binding protein 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1314725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:18414213|PMID:20436468|PMID:25028416|PMID:25741868|PMID:28346496|PMID:31680123|PMID:34782754 11819339 SETBP1 SET binding protein 1 gene DOID:10534 stomach cancer ISO RGD:69092 D RGD:9068941 20220311 RGD PMID:27006499|REF_RGD_ID:11354809 11819339 SETBP1 SET binding protein 1 gene DOID:1059 intellectual disability ISO RGD:1314725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11819339 SETBP1 SET binding protein 1 gene DOID:1826 epilepsy ISO RGD:1314725 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 11819339 SETBP1 SET binding protein 1 gene DOID:1882 atrial heart septal defect ISO RGD:1314725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 11819339 SETBP1 SET binding protein 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1314725 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 PMID:16199547|PMID:21037274|PMID:25217958|PMID:25741868|PMID:28492532 11819339 SETBP1 SET binding protein 1 gene DOID:630 genetic disease ISO RGD:1314725 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20436468|PMID:21037274|PMID:23222956|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:27824329|PMID:28346496|PMID:28492532|PMID:31332282|PMID:32460883|PMID:33391157 11819339 SETBP1 SET binding protein 1 gene DOID:8692 myeloid leukemia ISO RGD:1314725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23832012 11819339 SETBP1 SET binding protein 1 gene DOID:9001389 Schinzel-Giedion Syndrome ISO RGD:1314725 D RGD:7240710 20180130 OMIM 11819339 SETBP1 SET binding protein 1 gene DOID:9001389 Schinzel-Giedion Syndrome ISO RGD:1314725 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: SETBP1-Related Disorder | ClinVar Annotator: match by term: Schinzel-Giedion syndrome PMID:18398855|PMID:18414213|PMID:20436468|PMID:21037274|PMID:21371013|PMID:23222956|PMID:24033266|PMID:25028416|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:25852444|PMID:26350204|PMID:26467025|PMID:27824329|PMID:28346496|PMID:28492532|PMID:31332282|PMID:31680123|PMID:32445275|PMID:32460883|PMID:33391157|PMID:34782754 11819339 SETBP1 SET binding protein 1 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1314725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 11819339 SETBP1 SET binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11819339 SETBP1 SET binding protein 1 gene DOID:9004657 Weight Gain ISO RGD:1314725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11819339 SETBP1 SET binding protein 1 gene DOID:9005466 Language Development Disorders ISO RGD:1314725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25217958 11819339 SETBP1 SET binding protein 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1314725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11819339 SETBP1 SET binding protein 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:1314725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20436468 11819339 SETBP1 SET binding protein 1 gene DOID:9008582 Developmental Disease ISO RGD:1314725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11819339 SETBP1 SET binding protein 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1314725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20436468 11819339 SETBP1 SET binding protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1314725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25751625 11819349 TMEM221 transmembrane protein 221 gene DOID:630 genetic disease ISO RGD:2307389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819357 MELTF melanotransferrin gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1317764 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 11819357 MELTF melanotransferrin gene DOID:12849 autistic disorder ISO RGD:1317764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11819357 MELTF melanotransferrin gene DOID:1909 melanoma ISO RGD:1317764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16704991 11819357 MELTF melanotransferrin gene DOID:5419 schizophrenia ISO RGD:1317764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11819357 MELTF melanotransferrin gene DOID:630 genetic disease ISO RGD:1317764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819390 IPO8 importin 8 gene DOID:630 genetic disease ISO RGD:1343350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819390 IPO8 importin 8 gene DOID:9004471 VISS syndrome ISO RGD:1343350 D RGD:7240710 20211027 OMIM 11819390 IPO8 importin 8 gene DOID:9004471 VISS syndrome ISO RGD:1343350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: IPO8-related aortopathy | ClinVar Annotator: match by term: VISS syndrome PMID:16199547|PMID:25741868|PMID:28492532|PMID:33875846|PMID:34010604|PMID:34010605 11819419 RTCA RNA 3'-terminal phosphate cyclase gene DOID:630 genetic disease ISO RGD:1344520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819419 RTCA RNA 3'-terminal phosphate cyclase gene DOID:9269 maple syrup urine disease ISO RGD:1344520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:0050855 renal fibrosis ISO RGD:68595 D RGD:9068941 20200609 RGD PMID:22299048|REF_RGD_ID:11041600 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:0080322 polycystic kidney disease ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:17322369|REF_RGD_ID:10395372 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:0080339 familial erythrocytosis 4 ISO RGD:68594 D RGD:7240710 20180130 OMIM 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:0080339 familial erythrocytosis 4 ISO RGD:68594 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Erythrocytosis, familial, 4 PMID:18184961|PMID:18378852|PMID:18508787|PMID:18650473|PMID:19208626|PMID:21389259|PMID:22367913|PMID:23716564|PMID:25741868|PMID:27292716|PMID:27651169|PMID:28492532|PMID:29790589 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:10591 pre-eclampsia ISO RGD:68594 D RGD:9068941 20200609 RGD PMID:11159352|REF_RGD_ID:1580974 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:10780 primary polycythemia ISO RGD:68594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial erythrocytosis 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:11650 bronchopulmonary dysplasia treatment ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:23065129|REF_RGD_ID:10395385 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:12450 pancytopenia ISO RGD:68595 D RGD:9068941 20200609 RGD PMID:12750163|REF_RGD_ID:11041567 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:68595 D RGD:9068941 20220825 MouseDO OMIM:267450 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:14175 von Hippel-Lindau disease ISO RGD:68594 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:22299048|REF_RGD_ID:11041600 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:14227 azoospermia ISO RGD:68595 D RGD:9068941 20200609 RGD PMID:14608355|REF_RGD_ID:734934 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:3021 acute kidney failure treatment ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:16762988|REF_RGD_ID:10395386 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:3307 teratoma ISO RGD:68594 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Teratoma 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:3669 intermittent claudication treatment ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:21771896|REF_RGD_ID:10395378 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:3883 Lynch syndrome ISO RGD:68594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:68594 D RGD:9068941 20200609 RGD PMID:21812995|REF_RGD_ID:10395382 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:4195 hyperglycemia ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:17914354|REF_RGD_ID:10395377 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:4450 renal cell carcinoma ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:12750296|REF_RGD_ID:10395373 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:4450 renal cell carcinoma ISO RGD:68594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21131975 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:5679 retinal disease ISO RGD:68595 D RGD:9068941 20200609 RGD PMID:14608355|REF_RGD_ID:734934 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:5844 myocardial infarction ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:15247145|PMID:18484163|REF_RGD_ID:1580977|REF_RGD_ID:5147886 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:630 genetic disease ISO RGD:68594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:6432 pulmonary hypertension ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:16215633|REF_RGD_ID:10395375 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:6432 pulmonary hypertension ISO RGD:68594 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: 2097G>A,p.G537R(human) PMID:18650473|REF_RGD_ID:11041573 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:68594 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26735578 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:7148 rheumatoid arthritis ISO RGD:68594 D RGD:9068941 20200609 RGD protein:increased expression:layer of synovial tissue, stromal cell PMID:12823854|REF_RGD_ID:10395366 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:8398 osteoarthritis ISO RGD:68594 D RGD:9068941 20200609 RGD mRNA:increased expression:cartilage PMID:20495569|REF_RGD_ID:10395365 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:8398 osteoarthritis ISO RGD:68594 D RGD:9068941 20200609 RGD protein:increased expression:layer of synovial tissue, stromal cell PMID:12823854|REF_RGD_ID:10395366 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:8398 osteoarthritis ISO RGD:68595 D RGD:9068941 20200609 RGD PMID:20495569|PMID:21869830|REF_RGD_ID:10395364|REF_RGD_ID:10395365 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:8432 polycythemia ISO RGD:68594 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: 2097G>A,p.G537R(human) PMID:18650473|REF_RGD_ID:11041573 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:8432 polycythemia susceptibility ISO RGD:68594 D RGD:9068941 20200609 RGD DNA:polymorphisms,haplotype: :rs13419896, rs12619696(human) PMID:25792003|REF_RGD_ID:11041568 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:8893 psoriasis ISO RGD:68594 D RGD:9068941 20200609 RGD PMID:17495954|REF_RGD_ID:10395383 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:9000918 Disease Progression ISO RGD:68594 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26735578 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:9000998 Brain Injuries treatment ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:22960363|REF_RGD_ID:10395371 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:68404 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17914354|REF_RGD_ID:10395377 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:68404 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:17967803|REF_RGD_ID:10395374 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:68594 D RGD:9068941 20200609 RGD DNA:SNP:5' utr: (rs17039192) (human) PMID:20495570|REF_RGD_ID:10395368 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:9002331 Knee Osteoarthritis no_association ISO RGD:68594 D RGD:9068941 20200609 RGD DNA:SNP:5' utr: (rs17039192) (human) PMID:22247019|REF_RGD_ID:10395367 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:9003936 Cardiomegaly ISO RGD:68595 D RGD:9068941 20200609 RGD PMID:14608355|REF_RGD_ID:734934 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:68594 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26735578|PMID:30090327 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:9004814 Chromosome Aberrations ISO RGD:68594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23333640 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:9005004 Musculoskeletal Abnormalities ISO RGD:68595 D RGD:9068941 20200609 RGD PMID:14608355|REF_RGD_ID:734934 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:9005600 Infarction ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:12911537|REF_RGD_ID:10395384 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:9005725 Iron Overload treatment ISO RGD:68595 D RGD:9068941 20200609 RGD associated with Beta-Thalassemia; PMID:24282296|REF_RGD_ID:11041571 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:23603807|REF_RGD_ID:10395381 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:9007461 Chronic Lung Allograft Dysfunction ISO RGD:68404 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:22305384|REF_RGD_ID:10395369 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:68594 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:23333640|PMID:26735578|PMID:30090327 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:9007702 Carcinogenesis ISO RGD:68594 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26735578 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:17914354|REF_RGD_ID:10395377 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:9452 fatty liver disease ISO RGD:68595 D RGD:9068941 20200609 RGD PMID:14608355|REF_RGD_ID:734934 11819442 EPAS1 endothelial PAS domain protein 1 gene DOID:9498 pulmonary eosinophilia ISO RGD:68595 D RGD:9068941 20200609 RGD PMID:24218148|REF_RGD_ID:11041569 11819462 NIN ninein gene DOID:0070011 Seckel syndrome 7 ISO RGD:1315140 D RGD:7240710 20180130 OMIM 11819462 NIN ninein gene DOID:0070011 Seckel syndrome 7 ISO RGD:1315140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seckel syndrome 7 PMID:22933543|PMID:25741868|PMID:28492532 11819462 NIN ninein gene DOID:630 genetic disease ISO RGD:1315140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11819519 ARID4B AT-rich interaction domain 4B gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1604359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11819519 ARID4B AT-rich interaction domain 4B gene DOID:1540 parathyroid carcinoma ISO RGD:1604359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11819519 ARID4B AT-rich interaction domain 4B gene DOID:630 genetic disease ISO RGD:1604359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819519 ARID4B AT-rich interaction domain 4B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11819554 GNGT1 G protein subunit gamma transducin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1351801 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11819554 GNGT1 G protein subunit gamma transducin 1 gene DOID:10283 prostate cancer ISO RGD:1351801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11819554 GNGT1 G protein subunit gamma transducin 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11819554 GNGT1 G protein subunit gamma transducin 1 gene DOID:630 genetic disease ISO RGD:1351801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819566 TNFSF15 TNF superfamily member 15 gene DOID:0050589 inflammatory bowel disease ISO RGD:737096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192919 11819566 TNFSF15 TNF superfamily member 15 gene DOID:0110896 inflammatory bowel disease 16 ISO RGD:737097 D RGD:9068941 20220825 MouseDO OMIM:612259 11819566 TNFSF15 TNF superfamily member 15 gene DOID:1024 leprosy ISO RGD:737096 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 11819566 TNFSF15 TNF superfamily member 15 gene DOID:630 genetic disease ISO RGD:737096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819566 TNFSF15 TNF superfamily member 15 gene DOID:8398 osteoarthritis ISO RGD:737096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30664745 11819566 TNFSF15 TNF superfamily member 15 gene DOID:8577 ulcerative colitis ISO RGD:737096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 11819566 TNFSF15 TNF superfamily member 15 gene DOID:9005372 Inflammation ISO RGD:737096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20980995 11819566 TNFSF15 TNF superfamily member 15 gene DOID:9007156 Enteritis ISO RGD:737096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20980995 11819574 LOC100977490 ras-related protein Rab-26 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736116 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 11819574 LOC100977490 ras-related protein Rab-26 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:736116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 11819574 LOC100977490 ras-related protein Rab-26 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11819574 LOC100977490 ras-related protein Rab-26 gene DOID:1826 epilepsy ISO RGD:736116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11819574 LOC100977490 ras-related protein Rab-26 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11819574 LOC100977490 ras-related protein Rab-26 gene DOID:2871 endometrial carcinoma ISO RGD:736116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 11819574 LOC100977490 ras-related protein Rab-26 gene DOID:630 genetic disease ISO RGD:736116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819574 LOC100977490 ras-related protein Rab-26 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 11819586 MCF2L2 MCF.2 cell line derived transforming sequence-like 2 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1352917 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11819586 MCF2L2 MCF.2 cell line derived transforming sequence-like 2 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1352917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11819586 MCF2L2 MCF.2 cell line derived transforming sequence-like 2 gene DOID:0111546 Currarino syndrome ISO RGD:1352917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11819586 MCF2L2 MCF.2 cell line derived transforming sequence-like 2 gene DOID:630 genetic disease ISO RGD:1352917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819620 LRFN3 leucine rich repeat and fibronectin type III domain containing 3 gene DOID:0080600 COVID-19 ISO RGD:1313671 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11819620 LRFN3 leucine rich repeat and fibronectin type III domain containing 3 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1313671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11819620 LRFN3 leucine rich repeat and fibronectin type III domain containing 3 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1313671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11819620 LRFN3 leucine rich repeat and fibronectin type III domain containing 3 gene DOID:630 genetic disease ISO RGD:1313671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819629 SEMA3D semaphorin 3D gene DOID:0050834 CHARGE syndrome ISO RGD:1348225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532 11819629 SEMA3D semaphorin 3D gene DOID:10003 sensorineural hearing loss ISO RGD:1348225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27876815 11819629 SEMA3D semaphorin 3D gene DOID:10487 Hirschsprung's disease ISO RGD:1348225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868|PMID:28492532 11819629 SEMA3D semaphorin 3D gene DOID:1826 epilepsy ISO RGD:1348225 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 11819629 SEMA3D semaphorin 3D gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11819629 SEMA3D semaphorin 3D gene DOID:630 genetic disease ISO RGD:1348225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819650 WARS1 tryptophanyl-tRNA synthetase 1 gene DOID:0111212 distal hereditary motor neuronopathy type 9 ISO RGD:1317961 D RGD:7240710 20190315 OMIM 11819650 WARS1 tryptophanyl-tRNA synthetase 1 gene DOID:0111212 distal hereditary motor neuronopathy type 9 ISO RGD:1317961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 9 PMID:25741868|PMID:28369220|PMID:31069783|PMID:31321409 11819650 WARS1 tryptophanyl-tRNA synthetase 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1317961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 11819650 WARS1 tryptophanyl-tRNA synthetase 1 gene DOID:5419 schizophrenia ISO RGD:1317961 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11819650 WARS1 tryptophanyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1317961 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:35790048 11819650 WARS1 tryptophanyl-tRNA synthetase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1317961 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:36937954 11819676 ZNF727 zinc finger protein 727 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2301494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11819676 ZNF727 zinc finger protein 727 gene DOID:630 genetic disease ISO RGD:2301494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819684 HROB homologous recombination factor with OB-fold gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1602101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 11819684 HROB homologous recombination factor with OB-fold gene DOID:5426 primary ovarian insufficiency ISO RGD:1602101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency 11819705 FNDC3B fibronectin type III domain containing 3B gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1343110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28314734 11819705 FNDC3B fibronectin type III domain containing 3B gene DOID:10126 keratoconus ISO RGD:1343110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23291589 11819705 FNDC3B fibronectin type III domain containing 3B gene DOID:1062 Fanconi syndrome ISO RGD:1343110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 11819705 FNDC3B fibronectin type III domain containing 3B gene DOID:1067 open-angle glaucoma ISO RGD:1343110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23291589 11819705 FNDC3B fibronectin type III domain containing 3B gene DOID:630 genetic disease ISO RGD:1343110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819705 FNDC3B fibronectin type III domain containing 3B gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1343110 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 11819735 ECT2 epithelial cell transforming 2 gene DOID:1062 Fanconi syndrome ISO RGD:1318344 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 11819735 ECT2 epithelial cell transforming 2 gene DOID:630 genetic disease ISO RGD:1318344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819735 ECT2 epithelial cell transforming 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1318344 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11819735 ECT2 epithelial cell transforming 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318344 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11819779 STEEP1 STING1 ER exit protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11819779 STEEP1 STING1 ER exit protein 1 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1603201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 11819779 STEEP1 STING1 ER exit protein 1 gene DOID:0112054 non-syndromic X-linked intellectual disability 107 ISO RGD:1603201 D RGD:7240710 20190315 OMIM 11819779 STEEP1 STING1 ER exit protein 1 gene DOID:0112054 non-syndromic X-linked intellectual disability 107 ISO RGD:1603201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 107 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 107 PMID:25741868|PMID:29374277 11819779 STEEP1 STING1 ER exit protein 1 gene DOID:12849 autistic disorder ISO RGD:1603201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11819790 OCEL1 occludin/ELL domain containing 1 gene DOID:630 genetic disease ISO RGD:1603010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819813 PTGES2 prostaglandin E synthase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1321966 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11819813 PTGES2 prostaglandin E synthase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1321966 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11819813 PTGES2 prostaglandin E synthase 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321966 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11819813 PTGES2 prostaglandin E synthase 2 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1321966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11819813 PTGES2 prostaglandin E synthase 2 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1321966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 11819813 PTGES2 prostaglandin E synthase 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1321966 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11819813 PTGES2 prostaglandin E synthase 2 gene DOID:630 genetic disease ISO RGD:1321966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819813 PTGES2 prostaglandin E synthase 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1321966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22387750 11819813 PTGES2 prostaglandin E synthase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31444509 11819823 KRT10 keratin 10 gene DOID:161 keratosis ISO RGD:1354394 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35363433 11819823 KRT10 keratin 10 gene DOID:1749 squamous cell carcinoma ISO RGD:1354394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 11819823 KRT10 keratin 10 gene DOID:2773 contact dermatitis ISO RGD:1354394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11819823 KRT10 keratin 10 gene DOID:4323 epidermolytic acanthoma ISO RGD:1354394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolytic acanthoma PMID:1381287|PMID:21271994|PMID:22930352|PMID:25741868|PMID:26176760|PMID:28492532|PMID:28532675|PMID:32045015|PMID:7508181|PMID:7509230|PMID:7512983 11819823 KRT10 keratin 10 gene DOID:4603 epidermolytic hyperkeratosis ISO RGD:1354394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma PMID:1380725|PMID:1381287|PMID:16505000|PMID:19474805|PMID:20302579|PMID:21271994|PMID:2182100|PMID:22930352|PMID:24001792|PMID:25741868|PMID:26176760|PMID:28492532|PMID:28532675|PMID:32045015|PMID:7508181|PMID:7509230|PMID:7512983|PMID:7526210 11819823 KRT10 keratin 10 gene DOID:4603 epidermolytic hyperkeratosis susceptibility ISO RGD:1354394 D RGD:9068941 20200609 RGD DNA:mutations:cds: p.R156C (human) PMID:7512983|REF_RGD_ID:1600168 11819823 KRT10 keratin 10 gene DOID:630 genetic disease ISO RGD:1354394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11819823 KRT10 keratin 10 gene DOID:9000839 Ichthyosis Hystrix Gravior ISO RGD:1354394 D RGD:7240710 20221214 OMIM 11819823 KRT10 keratin 10 gene DOID:9004068 Epidermolytic Hyperkeratosis 2 ISO RGD:1354394 D RGD:7240710 20230517 OMIM 11819823 KRT10 keratin 10 gene DOID:9004464 Skin Neoplasms ISO RGD:1354394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 11819823 KRT10 keratin 10 gene DOID:9004887 Annular Epidermolytic Ichthyosis 1 ISO RGD:1354394 D RGD:7240710 20180130 OMIM 11819823 KRT10 keratin 10 gene DOID:9005778 Annular Epidermolytic Ichthyosis ISO RGD:1354394 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Annular epidermolytic ichthyosis PMID:22035476|PMID:25741868|PMID:28492532 11819823 KRT10 keratin 10 gene DOID:9006224 Reticular Erythrokeratoderma ISO RGD:1354394 D RGD:7240710 20180130 OMIM 11819823 KRT10 keratin 10 gene DOID:9006224 Reticular Erythrokeratoderma ISO RGD:1354394 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital reticular ichthyosiform erythroderma PMID:20798280|PMID:25210931|PMID:25741868|PMID:27208707|PMID:27291450|PMID:28492532|PMID:31638346|PMID:32407542|PMID:34008892|PMID:9418775 11819823 KRT10 keratin 10 gene DOID:9007964 Arsenic Poisoning ISO RGD:1354394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19953893 11819834 GPR33 G protein-coupled receptor 33 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1351733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:21681106 11819834 GPR33 G protein-coupled receptor 33 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1351733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:20818383|PMID:22072591|PMID:25741868|PMID:32518176|PMID:33224084 11819834 GPR33 G protein-coupled receptor 33 gene DOID:0112088 nuclear type mitochondrial complex I deficiency 21 ISO RGD:1351733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 PMID:20818383|PMID:22072591|PMID:25741868|PMID:32518176|PMID:33224084 11819834 GPR33 G protein-coupled receptor 33 gene DOID:14330 Parkinson's disease ISO RGD:1351733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson's disease PMID:20818383|PMID:22072591|PMID:25741868|PMID:32518176|PMID:33224084 11819834 GPR33 G protein-coupled receptor 33 gene DOID:630 genetic disease ISO RGD:1351733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819834 GPR33 G protein-coupled receptor 33 gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:1351733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy 11819834 GPR33 G protein-coupled receptor 33 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1351733 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11819840 PPP1R37 protein phosphatase 1 regulatory subunit 37 gene DOID:630 genetic disease ISO RGD:2293904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819860 BMS1 BMS1 ribosome biogenesis factor gene DOID:0080661 nonsyndromic aplasia cutis congenita ISO RGD:1345685 D RGD:7240710 20200422 OMIM 11819860 BMS1 BMS1 ribosome biogenesis factor gene DOID:2121 ectodermal dysplasia ISO RGD:1345685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aplasia cutis congenita PMID:23785305|PMID:25741868 11819860 BMS1 BMS1 ribosome biogenesis factor gene DOID:630 genetic disease ISO RGD:1345685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819891 FAM171A2 family with sequence similarity 171 member A2 gene DOID:630 genetic disease ISO RGD:2298821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819903 RAC2 Rac family small GTPase 2 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1316839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26457648 11819903 RAC2 Rac family small GTPase 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11819903 RAC2 Rac family small GTPase 2 gene DOID:0060058 lymphoma ISO RGD:1316839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19783987 11819903 RAC2 Rac family small GTPase 2 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1316839 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11819903 RAC2 Rac family small GTPase 2 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1316839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11819903 RAC2 Rac family small GTPase 2 gene DOID:0112061 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia ISO RGD:1316839 D RGD:7240710 20200902 OMIM 11819903 RAC2 Rac family small GTPase 2 gene DOID:0112061 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia ISO RGD:1316839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia PMID:25741868|PMID:28492532|PMID:30654050|PMID:30723080|PMID:31071452 11819903 RAC2 Rac family small GTPase 2 gene DOID:0112062 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia ISO RGD:1316839 D RGD:7240710 20200902 OMIM 11819903 RAC2 Rac family small GTPase 2 gene DOID:0112062 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia ISO RGD:1316839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia PMID:25512081|PMID:25741868|PMID:28492532 11819903 RAC2 Rac family small GTPase 2 gene DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis ISO RGD:1316839 D RGD:7240710 20180130 OMIM 11819903 RAC2 Rac family small GTPase 2 gene DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis ISO RGD:1316839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neutrophil immunodeficiency syndrome PMID:10758162|PMID:10961859|PMID:11278678|PMID:14676277|PMID:17576681|PMID:21167572|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30723080|PMID:33188496|PMID:9536098 11819903 RAC2 Rac family small GTPase 2 gene DOID:10283 prostate cancer ISO RGD:1316839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11819903 RAC2 Rac family small GTPase 2 gene DOID:114 heart disease ISO RGD:1316839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16330681 11819903 RAC2 Rac family small GTPase 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1316839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11819903 RAC2 Rac family small GTPase 2 gene DOID:1909 melanoma ISO RGD:1316839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 11819903 RAC2 Rac family small GTPase 2 gene DOID:627 severe combined immunodeficiency ISO RGD:1316839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:25741868|PMID:28492532|PMID:30723080 11819903 RAC2 Rac family small GTPase 2 gene DOID:630 genetic disease ISO RGD:1316839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11819903 RAC2 Rac family small GTPase 2 gene DOID:9000918 Disease Progression ISO RGD:1316839 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:35331739 11819903 RAC2 Rac family small GTPase 2 gene DOID:9001004 Chronic Periodontitis ISO RGD:1316839 D RGD:9068941 20200609 RGD mRNA:increased expression:gingival tissues PMID:21382035|REF_RGD_ID:6480655 11819903 RAC2 Rac family small GTPase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11819903 RAC2 Rac family small GTPase 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1316839 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:35331739 11819914 CTSH cathepsin H gene DOID:0080322 polycystic kidney disease ISO RGD:2447 D RGD:9068941 20200609 RGD protein:increased expression:kidney proximal tubule PMID:8840269|REF_RGD_ID:5686402 11819914 CTSH cathepsin H gene DOID:12858 Huntington's disease ISO RGD:735454 D RGD:9068941 20200609 RGD protein:increased expression:caudate nucleus PMID:7561949|REF_RGD_ID:5686393 11819914 CTSH cathepsin H gene DOID:2377 multiple sclerosis ISO RGD:10423 D RGD:9068941 20200609 RGD PMID:17086443|REF_RGD_ID:5686392 11819914 CTSH cathepsin H gene DOID:2671 transitional cell carcinoma ISO RGD:735454 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:15183956|REF_RGD_ID:2315615 11819914 CTSH cathepsin H gene DOID:2717 Bloom syndrome ISO RGD:735454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11819914 CTSH cathepsin H gene DOID:3068 glioblastoma ISO RGD:735454 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:8640738|REF_RGD_ID:1549417 11819914 CTSH cathepsin H gene DOID:332 amyotrophic lateral sclerosis ISO RGD:10423 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord PMID:17583678|REF_RGD_ID:5686391 11819914 CTSH cathepsin H gene DOID:630 genetic disease ISO RGD:735454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819914 CTSH cathepsin H gene DOID:9000965 Neoplasm Metastasis ISO RGD:735454 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:12589965|REF_RGD_ID:5686394 11819914 CTSH cathepsin H gene DOID:9005166 Contusions ISO RGD:2447 D RGD:9068941 20211224 RGD mRNA:increased expression:gastrocnemius (rat) PMID:11788364|REF_RGD_ID:631244 11819914 CTSH cathepsin H gene DOID:9007980 Sleep Deprivation ISO RGD:2447 D RGD:9068941 20200609 RGD PMID:17027151|REF_RGD_ID:2306498 11819914 CTSH cathepsin H gene DOID:9119 acute myeloid leukemia ISO RGD:735454 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11819914 CTSH cathepsin H gene DOID:9256 colorectal cancer ISO RGD:735454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11819914 CTSH cathepsin H gene DOID:9744 type 1 diabetes mellitus ISO RGD:735454 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18978792 11819943 C16H16orf96 chromosome 16 C16orf96 homolog gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:5487050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11819943 C16H16orf96 chromosome 16 C16orf96 homolog gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:5487050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 11819943 C16H16orf96 chromosome 16 C16orf96 homolog gene DOID:1826 epilepsy ISO RGD:5487050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11819943 C16H16orf96 chromosome 16 C16orf96 homolog gene DOID:1827 idiopathic generalized epilepsy ISO RGD:5487050 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11819943 C16H16orf96 chromosome 16 C16orf96 homolog gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:5487050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 11819943 C16H16orf96 chromosome 16 C16orf96 homolog gene DOID:630 genetic disease ISO RGD:5487050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11819962 CLCC1 chloride channel CLIC like 1 gene DOID:0110355 retinitis pigmentosa 32 ISO RGD:1604384 D RGD:7240710 20200722 OMIM 11819962 CLCC1 chloride channel CLIC like 1 gene DOID:0110355 retinitis pigmentosa 32 ISO RGD:1604384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 32 PMID:16189710|PMID:28492532|PMID:30157172 11819962 CLCC1 chloride channel CLIC like 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1604384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11819962 CLCC1 chloride channel CLIC like 1 gene DOID:12849 autistic disorder ISO RGD:1604384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11819962 CLCC1 chloride channel CLIC like 1 gene DOID:630 genetic disease ISO RGD:1604384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11819962 CLCC1 chloride channel CLIC like 1 gene DOID:9000177 Chudley-Mccullough syndrome ISO RGD:1604384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chudley-McCullough syndrome PMID:24033266|PMID:25741868|PMID:28492532 11819962 CLCC1 chloride channel CLIC like 1 gene DOID:9004538 Hearing Loss ISO RGD:1604384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:30311386 11820005 LRRC23 leucine rich repeat containing 23 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1604054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11820005 LRRC23 leucine rich repeat containing 23 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1604054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11820005 LRRC23 leucine rich repeat containing 23 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1604054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11820005 LRRC23 leucine rich repeat containing 23 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1604054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11820005 LRRC23 leucine rich repeat containing 23 gene DOID:0111621 Temtamy syndrome ISO RGD:1604054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11820005 LRRC23 leucine rich repeat containing 23 gene DOID:630 genetic disease ISO RGD:1604054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11820005 LRRC23 leucine rich repeat containing 23 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1604054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11820055 LOC103785199 keratin-associated protein 19-1 gene DOID:630 genetic disease ISO RGD:1344074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11820080 NEUROG3 neurogenin 3 gene DOID:0060779 congenital malabsorptive diarrhea 4 ISO RGD:1344822 D RGD:7240710 20180130 OMIM 11820080 NEUROG3 neurogenin 3 gene DOID:0060779 congenital malabsorptive diarrhea 4 ISO RGD:1344822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital malabsorptive diarrhea 4 PMID:16855267|PMID:24033266|PMID:25741868|PMID:26541772|PMID:28492532|PMID:31178402|PMID:31805014 11820080 NEUROG3 neurogenin 3 gene DOID:10603 glucose intolerance susceptibility ISO RGD:1344822 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.S199F PMID:15277395|REF_RGD_ID:1601481 11820080 NEUROG3 neurogenin 3 gene DOID:4195 hyperglycemia ISO RGD:1344822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperglycemia PMID:16855267|PMID:21378176|PMID:21490072|PMID:27533310|PMID:28940958|PMID:31178402|PMID:31805014 11820080 NEUROG3 neurogenin 3 gene DOID:630 genetic disease ISO RGD:1344822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11820080 NEUROG3 neurogenin 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1552201 D RGD:9068941 20200609 RGD PMID:19819964|REF_RGD_ID:2313774 11820080 NEUROG3 neurogenin 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344822 D RGD:9068941 20200609 RGD PMID:17146417|REF_RGD_ID:2313775 11820086 AGGF1 angiogenic factor with G-patch and FHA domains 1 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1350142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 11820086 AGGF1 angiogenic factor with G-patch and FHA domains 1 gene DOID:11193 syndactyly ISO RGD:1350142 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Non-syndromic syndactyly PMID:25741868 11820086 AGGF1 angiogenic factor with G-patch and FHA domains 1 gene DOID:630 genetic disease ISO RGD:1350142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11820086 AGGF1 angiogenic factor with G-patch and FHA domains 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11820108 SEC23B SEC23 homolog B, COPII coat complex component gene DOID:0080600 COVID-19 ISO RGD:1321756 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11820108 SEC23B SEC23 homolog B, COPII coat complex component gene DOID:0081003 Cowden syndrome 7 ISO RGD:1321756 D RGD:7240710 20190315 OMIM 11820108 SEC23B SEC23 homolog B, COPII coat complex component gene DOID:0081003 Cowden syndrome 7 ISO RGD:1321756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cowden syndrome 7 PMID:16199547|PMID:19561605|PMID:19621418|PMID:20015893|PMID:20381388|PMID:22208203|PMID:22428539|PMID:25044164|PMID:25741868|PMID:26522472|PMID:28492532 11820108 SEC23B SEC23 homolog B, COPII coat complex component gene DOID:0111401 congenital dyserythropoietic anemia type II ISO RGD:1321756 D RGD:7240710 20191009 OMIM 11820108 SEC23B SEC23 homolog B, COPII coat complex component gene DOID:0111401 congenital dyserythropoietic anemia type II ISO RGD:1321756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II | ClinVar Annotator: match by term: HEMPAS anemia PMID:16199547|PMID:17576681|PMID:19561605|PMID:19621418|PMID:20015893|PMID:20381388|PMID:20941788|PMID:21252497|PMID:21850656|PMID:22208203|PMID:22428539|PMID:23453696|PMID:25044164|PMID:25741868|PMID:26522472|PMID:27471141|PMID:28492532|PMID:29031773|PMID:29846281|PMID:29901818|PMID:32581362|PMID:32641076|PMID:33159567|PMID:34093240|PMID:34201899|PMID:9536098 11820108 SEC23B SEC23 homolog B, COPII coat complex component gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:1321756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia PMID:24033266|PMID:25741868 11820108 SEC23B SEC23 homolog B, COPII coat complex component gene DOID:630 genetic disease ISO RGD:1321756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11820144 PPP1R15B protein phosphatase 1 regulatory subunit 15B gene DOID:0080600 COVID-19 ISO RGD:1317432 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 11820144 PPP1R15B protein phosphatase 1 regulatory subunit 15B gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1317432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11820144 PPP1R15B protein phosphatase 1 regulatory subunit 15B gene DOID:12849 autistic disorder ISO RGD:1317432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11820144 PPP1R15B protein phosphatase 1 regulatory subunit 15B gene DOID:1540 parathyroid carcinoma ISO RGD:1317432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11820144 PPP1R15B protein phosphatase 1 regulatory subunit 15B gene DOID:630 genetic disease ISO RGD:1317432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11820144 PPP1R15B protein phosphatase 1 regulatory subunit 15B gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1317432 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11820144 PPP1R15B protein phosphatase 1 regulatory subunit 15B gene DOID:9006272 Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 ISO RGD:1317432 D RGD:7240710 20190315 OMIM 11820144 PPP1R15B protein phosphatase 1 regulatory subunit 15B gene DOID:9006272 Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 ISO RGD:1317432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 2 PMID:25741868|PMID:26159176|PMID:26307080|PMID:28492532 11820144 PPP1R15B protein phosphatase 1 regulatory subunit 15B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11820151 ANXA6 annexin A6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733718 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11820151 ANXA6 annexin A6 gene DOID:630 genetic disease ISO RGD:733718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11820151 ANXA6 annexin A6 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:733718 D RGD:9068941 20220616 RGD associated with tumor vascularization; protein:decreased expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 11820151 ANXA6 annexin A6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733718 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11820151 ANXA6 annexin A6 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11820151 ANXA6 annexin A6 gene DOID:9119 acute myeloid leukemia ISO RGD:733718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11820185 CASTOR1 cytosolic arginine sensor for mTORC1 subunit 1 gene DOID:630 genetic disease ISO RGD:2306475 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11820203 SMIM3 small integral membrane protein 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605605 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11820203 SMIM3 small integral membrane protein 3 gene DOID:630 genetic disease ISO RGD:1605605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11820203 SMIM3 small integral membrane protein 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605605 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11820217 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:0060327 omphalocele ISO RGD:1603682 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Omphalocoele PMID:25741868 11820217 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:0080697 Opitz GBBB syndrome ISO RGD:1603682 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS PMID:25741868|PMID:30472488 11820217 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:0080698 Teebi hypertelorism syndrome 1 ISO RGD:1603682 D RGD:7240710 20220608 OMIM 11820217 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:0080698 Teebi hypertelorism syndrome 1 ISO RGD:1603682 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Teebi hypertelorism syndrome 1 PMID:25412741|PMID:25741868|PMID:30472488|PMID:31953237|PMID:3228142|PMID:32954677 11820217 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:0081073 Teebi hypertelorism syndrome ISO RGD:1603682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Teebi hypertelorism syndrome PMID:17506099|PMID:25412741|PMID:25741868|PMID:25741869|PMID:26111080|PMID:28492532|PMID:30472488|PMID:31953237 11820217 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:0111706 oblique facial clefting 1 ISO RGD:1603682 D RGD:7240710 20180130 OMIM 11820217 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:0111706 oblique facial clefting 1 ISO RGD:1603682 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Oculomaxillofacial dysostosis PMID:21703590|PMID:25741868|PMID:28492532 11820217 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:10283 prostate cancer ISO RGD:1603682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11820217 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:1059 intellectual disability ISO RGD:1603682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11820217 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:11198 DiGeorge syndrome ISO RGD:1603682 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant Opitz G/BBB syndrome PMID:25741868|PMID:28492532 11820217 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:1826 epilepsy ISO RGD:1603682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11820217 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:5419 schizophrenia ISO RGD:1603682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11820217 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:630 genetic disease ISO RGD:1603682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11820217 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:674 cleft palate ISO RGD:1332016 D RGD:9068941 20220825 MouseDO 11820217 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1603682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:28492532|PMID:31837199 11820271 E2F8 E2F transcription factor 8 gene DOID:1059 intellectual disability ISO RGD:1605946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11820271 E2F8 E2F transcription factor 8 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 11820271 E2F8 E2F transcription factor 8 gene DOID:630 genetic disease ISO RGD:1605946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11820271 E2F8 E2F transcription factor 8 gene DOID:684 hepatocellular carcinoma ISO RGD:1605946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11820271 E2F8 E2F transcription factor 8 gene DOID:9000918 Disease Progression ISO RGD:1605946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 11820271 E2F8 E2F transcription factor 8 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1605946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27683099 11820292 MUC12 mucin 12, cell surface associated gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11820292 MUC12 mucin 12, cell surface associated gene DOID:9005172 Lung Neoplasms ISO RGD:1347863 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29054765 11820293 SYT2 synaptotagmin 2 gene DOID:0110659 congenital myasthenic syndrome 7 ISO RGD:735278 D RGD:7240710 20180130 OMIM 11820293 SYT2 synaptotagmin 2 gene DOID:0110659 congenital myasthenic syndrome 7 ISO RGD:735278 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 7 PMID:25192047|PMID:25741868|PMID:26519543|PMID:28492532|PMID:28953919|PMID:30533528|PMID:31230720|PMID:32403337|PMID:33320396|PMID:34037996 11820293 SYT2 synaptotagmin 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:735278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11820293 SYT2 synaptotagmin 2 gene DOID:12377 spinal muscular atrophy ISO RGD:731270 D RGD:9068941 20211203 RGD protein:decreased expression:multiple (mouse) PMID:28173138|REF_RGD_ID:11535337 11820293 SYT2 synaptotagmin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:735278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11820293 SYT2 synaptotagmin 2 gene DOID:3635 congenital myasthenic syndrome ISO RGD:735278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11820293 SYT2 synaptotagmin 2 gene DOID:630 genetic disease ISO RGD:735278 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25192047|PMID:25741868|PMID:26519543|PMID:28492532|PMID:28953919 11820293 SYT2 synaptotagmin 2 gene DOID:7319 axonal neuropathy ISO RGD:735278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral axonal neuropathy PMID:25741868 11820293 SYT2 synaptotagmin 2 gene DOID:9001976 Presynaptic Congenital Myasthenic Syndrome 7B, Autosomal Recessive ISO RGD:735278 D RGD:7240710 20211027 OMIM 11820293 SYT2 synaptotagmin 2 gene DOID:9001976 Presynaptic Congenital Myasthenic Syndrome 7B, Autosomal Recessive ISO RGD:735278 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive PMID:25741868|PMID:28492532|PMID:32250532|PMID:32776697|PMID:33659639 11820293 SYT2 synaptotagmin 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:735278 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11820293 SYT2 synaptotagmin 2 gene DOID:9005532 Muscle Weakness ISO RGD:735278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness 11820293 SYT2 synaptotagmin 2 gene DOID:9006836 Contracture ISO RGD:735278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 11820293 SYT2 synaptotagmin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11820321 CARMIL3 capping protein regulator and myosin 1 linker 3 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1349280 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11820321 CARMIL3 capping protein regulator and myosin 1 linker 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1349280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11820321 CARMIL3 capping protein regulator and myosin 1 linker 3 gene DOID:630 genetic disease ISO RGD:1349280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11820321 CARMIL3 capping protein regulator and myosin 1 linker 3 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1349280 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11820321 CARMIL3 capping protein regulator and myosin 1 linker 3 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1349280 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11820379 TECPR1 tectonin beta-propeller repeat containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11820379 TECPR1 tectonin beta-propeller repeat containing 1 gene DOID:630 genetic disease ISO RGD:1601877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11820379 TECPR1 tectonin beta-propeller repeat containing 1 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1601877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 11820425 NARS1 asparaginyl-tRNA synthetase 1 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1316312 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 11820425 NARS1 asparaginyl-tRNA synthetase 1 gene DOID:0111988 immunodeficiency 12 ISO RGD:1316312 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 11820425 NARS1 asparaginyl-tRNA synthetase 1 gene DOID:0112139 nuclear type mitochondrial complex I deficiency 35 ISO RGD:1316312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35 PMID:28040730 11820425 NARS1 asparaginyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1316312 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11820425 NARS1 asparaginyl-tRNA synthetase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532|PMID:32738225|PMID:32788587 11820425 NARS1 asparaginyl-tRNA synthetase 1 gene DOID:9006331 Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities ISO RGD:1316312 D RGD:7240710 20210120 OMIM 11820425 NARS1 asparaginyl-tRNA synthetase 1 gene DOID:9006331 Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities ISO RGD:1316312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities PMID:25741868|PMID:28492532|PMID:32738225|PMID:32788587 11820425 NARS1 asparaginyl-tRNA synthetase 1 gene DOID:9008582 Developmental Disease ISO RGD:1316312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:28492532|PMID:32738225 11820425 NARS1 asparaginyl-tRNA synthetase 1 gene DOID:9008961 Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities ISO RGD:1316312 D RGD:7240710 20201202 OMIM 11820425 NARS1 asparaginyl-tRNA synthetase 1 gene DOID:9008961 Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities ISO RGD:1316312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities PMID:25741868|PMID:28492532|PMID:32738225 11820448 DDX31 DEAD-box helicase 31 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1312596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11820448 DDX31 DEAD-box helicase 31 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1312596 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11820448 DDX31 DEAD-box helicase 31 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1312596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11820448 DDX31 DEAD-box helicase 31 gene DOID:0081097 Rafiq syndrome ISO RGD:1312596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11820448 DDX31 DEAD-box helicase 31 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1312596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11820448 DDX31 DEAD-box helicase 31 gene DOID:3652 Leigh disease ISO RGD:1312596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11820448 DDX31 DEAD-box helicase 31 gene DOID:630 genetic disease ISO RGD:1312596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11820497 ECM2 extracellular matrix protein 2 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1318155 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 11820497 ECM2 extracellular matrix protein 2 gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1318155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 11820497 ECM2 extracellular matrix protein 2 gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1318155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 11820497 ECM2 extracellular matrix protein 2 gene DOID:630 genetic disease ISO RGD:1318155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11820497 ECM2 extracellular matrix protein 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:1318155 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11820512 ADGRF3 adhesion G protein-coupled receptor F3 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1314157 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11820512 ADGRF3 adhesion G protein-coupled receptor F3 gene DOID:630 genetic disease ISO RGD:1314157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11820540 DPH3 diphthamide biosynthesis 3 gene DOID:0060417 3p deletion syndrome ISO RGD:1346924 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 11820540 DPH3 diphthamide biosynthesis 3 gene DOID:630 genetic disease ISO RGD:1346924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11820556 VPS18 VPS18 core subunit of CORVET and HOPS complexes gene DOID:2717 Bloom syndrome ISO RGD:1323077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11820556 VPS18 VPS18 core subunit of CORVET and HOPS complexes gene DOID:630 genetic disease ISO RGD:1323077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11820556 VPS18 VPS18 core subunit of CORVET and HOPS complexes gene DOID:9256 colorectal cancer ISO RGD:1323077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11820569 MACROD1 mono-ADP ribosylhydrolase 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11820569 MACROD1 mono-ADP ribosylhydrolase 1 gene DOID:1059 intellectual disability ISO RGD:1603052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11820569 MACROD1 mono-ADP ribosylhydrolase 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1603052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28832565 11820569 MACROD1 mono-ADP ribosylhydrolase 1 gene DOID:3070 high grade glioma ISO RGD:1603052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11820569 MACROD1 mono-ADP ribosylhydrolase 1 gene DOID:574 peripheral nervous system disease ISO RGD:1603052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 11820569 MACROD1 mono-ADP ribosylhydrolase 1 gene DOID:630 genetic disease ISO RGD:1603052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11820569 MACROD1 mono-ADP ribosylhydrolase 1 gene DOID:870 neuropathy ISO RGD:1603052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 11820586 HTR4 5-hydroxytryptamine receptor 4 gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:736061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17218722 11820586 HTR4 5-hydroxytryptamine receptor 4 gene DOID:0060224 atrial fibrillation ISO RGD:736061 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7886817 11820586 HTR4 5-hydroxytryptamine receptor 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736061 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11820586 HTR4 5-hydroxytryptamine receptor 4 gene DOID:1749 squamous cell carcinoma ISO RGD:736061 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 11820586 HTR4 5-hydroxytryptamine receptor 4 gene DOID:3910 lung adenocarcinoma ISO RGD:736061 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 11820586 HTR4 5-hydroxytryptamine receptor 4 gene DOID:630 genetic disease ISO RGD:736061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11820586 HTR4 5-hydroxytryptamine receptor 4 gene DOID:8689 anorexia nervosa ISO RGD:10750 D RGD:9068941 20220825 MouseDO 11820586 HTR4 5-hydroxytryptamine receptor 4 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:736061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9806222 11820586 HTR4 5-hydroxytryptamine receptor 4 gene DOID:9001109 Anorexia ISO RGD:736061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15146954 11820586 HTR4 5-hydroxytryptamine receptor 4 gene DOID:9002554 Tachycardia ISO RGD:736061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7886817 11820586 HTR4 5-hydroxytryptamine receptor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11820586 HTR4 5-hydroxytryptamine receptor 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736061 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11820586 HTR4 5-hydroxytryptamine receptor 4 gene DOID:9007096 Stroke ISO RGD:736061 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7886817 11820617 SETD4 SET domain containing 4 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1353006 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11820617 SETD4 SET domain containing 4 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1353006 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11820617 SETD4 SET domain containing 4 gene DOID:1588 thrombocytopenia ISO RGD:1353006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 11820617 SETD4 SET domain containing 4 gene DOID:630 genetic disease ISO RGD:1353006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11820617 SETD4 SET domain containing 4 gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1353006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 11820617 SETD4 SET domain containing 4 gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:1353006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy PMID:25741868|PMID:34355501 11820660 TRPM8 transient receptor potential cation channel subfamily M member 8 gene DOID:0060476 Perlman syndrome ISO RGD:732182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11820660 TRPM8 transient receptor potential cation channel subfamily M member 8 gene DOID:0110991 Joubert syndrome 22 ISO RGD:732182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11820660 TRPM8 transient receptor potential cation channel subfamily M member 8 gene DOID:12783 migraine without aura ISO RGD:732182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22683712 11820660 TRPM8 transient receptor potential cation channel subfamily M member 8 gene DOID:630 genetic disease ISO RGD:732182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11820660 TRPM8 transient receptor potential cation channel subfamily M member 8 gene DOID:6364 migraine ISO RGD:732182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21666692 11820688 CD36 CD36 molecule gene DOID:0050700 cardiomyopathy treatment ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:17363697|REF_RGD_ID:11040927 11820688 CD36 CD36 molecule gene DOID:0050827 rheumatic heart disease ISO RGD:619554 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood, mononuclear cell PMID:16741676|REF_RGD_ID:6893529 11820688 CD36 CD36 molecule gene DOID:0060180 colitis ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:19117124|REF_RGD_ID:6893503 11820688 CD36 CD36 molecule gene DOID:0060224 atrial fibrillation disease_progression ISO RGD:619554 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:blood, leukocyte PMID:21195211|REF_RGD_ID:6893544 11820688 CD36 CD36 molecule gene DOID:0070004 myeloid neoplasm ISO RGD:619554 D RGD:9068941 20200609 RGD protein:increased expression:platelet, plasma membrane PMID:12479587|REF_RGD_ID:11040908 11820688 CD36 CD36 molecule gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:24280415|REF_RGD_ID:11041117 11820688 CD36 CD36 molecule gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:619555 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:21216282|REF_RGD_ID:6893543 11820688 CD36 CD36 molecule gene DOID:0111046 platelet-type bleeding disorder 10 ISO RGD:619554 D RGD:7240710 20230517 OMIM 11820688 CD36 CD36 molecule gene DOID:0111046 platelet-type bleeding disorder 10 ISO RGD:619554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Platelet-type bleeding disorder 10 PMID:10890433|PMID:10946357|PMID:11019968|PMID:11352982|PMID:11499670|PMID:11718687|PMID:11950861|PMID:12031598|PMID:15282206|PMID:15671915|PMID:16493488|PMID:18305138|PMID:19403559|PMID:20722468|PMID:22993001|PMID:23649248|PMID:23856131|PMID:23966019|PMID:24033266|PMID:24917573|PMID:24960640|PMID:25330908|PMID:25741868|PMID:25798958|PMID:25995486|PMID:26528880|PMID:28137300|PMID:28492532|PMID:33116287|PMID:7533783|PMID:7686693|PMID:8696942 11820688 CD36 CD36 molecule gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:619554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:16911630|PMID:16952981|PMID:25741868|PMID:32347024|PMID:32796572 11820688 CD36 CD36 molecule gene DOID:10223 dermatomyositis ISO RGD:619554 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:17572512|REF_RGD_ID:6893508 11820688 CD36 CD36 molecule gene DOID:10325 silicosis treatment ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:24053919|REF_RGD_ID:11041147 11820688 CD36 CD36 molecule gene DOID:10603 glucose intolerance ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14640889 11820688 CD36 CD36 molecule gene DOID:10608 celiac disease ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 11820688 CD36 CD36 molecule gene DOID:10652 Alzheimer's disease ISO RGD:619554 D RGD:9068941 20200609 RGD PMID:16563568|REF_RGD_ID:6893531 11820688 CD36 CD36 molecule gene DOID:10763 hypertension ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:18587397|REF_RGD_ID:2300254 11820688 CD36 CD36 molecule gene DOID:10763 hypertension ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18587397 11820688 CD36 CD36 molecule gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:619554 D RGD:9068941 20200609 RGD PMID:7529543|REF_RGD_ID:11041104 11820688 CD36 CD36 molecule gene DOID:10923 sickle cell anemia ISO RGD:619554 D RGD:9068941 20200609 RGD protein:increased expression:erythrocyte PMID:18322255|REF_RGD_ID:6893506 11820688 CD36 CD36 molecule gene DOID:10923 sickle cell anemia treatment ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:20015873|REF_RGD_ID:11041114 11820688 CD36 CD36 molecule gene DOID:11382 corneal neovascularization ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:17003426|REF_RGD_ID:6893528 11820688 CD36 CD36 molecule gene DOID:11612 polycystic ovary syndrome ISO RGD:2301 D RGD:9068941 20200609 RGD protein:decreased expression:cardiac muscle cell PMID:25702158|REF_RGD_ID:11041149 11820688 CD36 CD36 molecule gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:2301 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:19189074|REF_RGD_ID:2307222 11820688 CD36 CD36 molecule gene DOID:12132 granulomatosis with polyangiitis ISO RGD:619554 D RGD:9068941 20200609 RGD PMID:21412229|REF_RGD_ID:6893495 11820688 CD36 CD36 molecule gene DOID:12365 malaria ISO RGD:619554 D RGD:7240710 20230517 OMIM 11820688 CD36 CD36 molecule gene DOID:12365 malaria ISO RGD:619554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malaria, cerebral, susceptibility to | ClinVar Annotator: match by term: Malaria, susceptibility to PMID:10890433|PMID:18305138|PMID:19403559|PMID:25741868 11820688 CD36 CD36 molecule gene DOID:12554 hemolytic-uremic syndrome ISO RGD:619554 D RGD:9068941 20200609 RGD PMID:16197457|REF_RGD_ID:6893534 11820688 CD36 CD36 molecule gene DOID:12930 dilated cardiomyopathy ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10981864 11820688 CD36 CD36 molecule gene DOID:14069 cerebral malaria ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:17367535|REF_RGD_ID:6893527 11820688 CD36 CD36 molecule gene DOID:1826 epilepsy ISO RGD:619554 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 11820688 CD36 CD36 molecule gene DOID:1936 atherosclerosis ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:19264766|PMID:20037584|REF_RGD_ID:6893502|REF_RGD_ID:6893559 11820688 CD36 CD36 molecule gene DOID:1936 atherosclerosis treatment ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:26003171|REF_RGD_ID:11041151 11820688 CD36 CD36 molecule gene DOID:2218 blood platelet disease ISO RGD:619554 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Platelet disorder PMID:10946357|PMID:11019968|PMID:11718687|PMID:11950861|PMID:15282206|PMID:24033266|PMID:24917573|PMID:24960640|PMID:25741868|PMID:25798958|PMID:7533783|PMID:7686693 11820688 CD36 CD36 molecule gene DOID:2224 essential thrombocythemia ISO RGD:619554 D RGD:9068941 20200609 RGD protein:increased expression:platelet, cell surface PMID:8555064|REF_RGD_ID:11041099 11820688 CD36 CD36 molecule gene DOID:2316 brain ischemia ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:20360550|REF_RGD_ID:6893498 11820688 CD36 CD36 molecule gene DOID:2349 arteriosclerosis severity ISO RGD:619554 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18723424|REF_RGD_ID:2307207 11820688 CD36 CD36 molecule gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:619554 D RGD:9068941 20200609 RGD PMID:20855355|REF_RGD_ID:6893496 11820688 CD36 CD36 molecule gene DOID:2527 nephrosis ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:19147991|REF_RGD_ID:2307223 11820688 CD36 CD36 molecule gene DOID:289 endometriosis ISO RGD:619554 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:macrophage PMID:19606481|REF_RGD_ID:6893501 11820688 CD36 CD36 molecule gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:619554 D RGD:9068941 20210226 RGD DNA:SNPs: :rs1194182, rs10499859(human) PMID:28693442|REF_RGD_ID:41412192 11820688 CD36 CD36 molecule gene DOID:3042 allergic contact dermatitis ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 11820688 CD36 CD36 molecule gene DOID:3429 inclusion body myositis ISO RGD:619554 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:17572512|REF_RGD_ID:6893508 11820688 CD36 CD36 molecule gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:25216018|REF_RGD_ID:11041113 11820688 CD36 CD36 molecule gene DOID:3526 cerebral infarction ISO RGD:619555 D RGD:9068941 20200609 RGD associated with Hyperlipidemias PMID:22718544|REF_RGD_ID:6893487 11820688 CD36 CD36 molecule gene DOID:3770 pulmonary fibrosis ISO RGD:2301 D RGD:9068941 20200609 RGD associated with Silicosis PMID:19439069|REF_RGD_ID:2307220 11820688 CD36 CD36 molecule gene DOID:3770 pulmonary fibrosis severity ISO RGD:619555 D RGD:9068941 20200609 RGD associated with Silicosis PMID:20056742|REF_RGD_ID:6893557 11820688 CD36 CD36 molecule gene DOID:4448 macular degeneration ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:18288886|REF_RGD_ID:2307226 11820688 CD36 CD36 molecule gene DOID:4448 macular degeneration ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:18288886|REF_RGD_ID:2307226 11820688 CD36 CD36 molecule gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:619554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11820688 CD36 CD36 molecule gene DOID:5082 liver cirrhosis ISO RGD:619554 D RGD:9068941 20200609 RGD associated with Hypertension, Portal PMID:22648712|REF_RGD_ID:6893541 11820688 CD36 CD36 molecule gene DOID:5844 myocardial infarction severity ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:22128087|REF_RGD_ID:6893560 11820688 CD36 CD36 molecule gene DOID:612 primary immunodeficiency disease ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15690042 11820688 CD36 CD36 molecule gene DOID:630 genetic disease ISO RGD:619554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11820688 CD36 CD36 molecule gene DOID:8398 osteoarthritis susceptibility ISO RGD:619554 D RGD:9068941 20200609 RGD PMID:15334463|REF_RGD_ID:1625347 11820688 CD36 CD36 molecule gene DOID:8552 chronic myeloid leukemia ISO RGD:619554 D RGD:9068941 20200609 RGD protein:increased expression:platelet, cell surface PMID:8555064|REF_RGD_ID:11041099 11820688 CD36 CD36 molecule gene DOID:8997 polycythemia vera ISO RGD:619554 D RGD:9068941 20200609 RGD protein:increased expression:platelet, cell surface PMID:8555064|REF_RGD_ID:11041099 11820688 CD36 CD36 molecule gene DOID:9000064 Cardiac Arrhythmias severity ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:22128087|REF_RGD_ID:6893560 11820688 CD36 CD36 molecule gene DOID:9000528 Coronary Disease ISO RGD:619554 D RGD:7240710 20230517 OMIM 11820688 CD36 CD36 molecule gene DOID:9000656 Penetrating Wounds ISO RGD:619555 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;mRNA:decreased expression:macrophage PMID:21803601|REF_RGD_ID:6893492 11820688 CD36 CD36 molecule gene DOID:9000808 Hypercholesterolemia ISO RGD:619554 D RGD:9068941 20200609 RGD PMID:10946357|REF_RGD_ID:11040931 11820688 CD36 CD36 molecule gene DOID:9001415 Mycobacterium Infections ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:20950462|REF_RGD_ID:6893545 11820688 CD36 CD36 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11820688 CD36 CD36 molecule gene DOID:9002165 Diabetic Nephropathies ISO RGD:2301 D RGD:9068941 20200609 RGD protein:increased expression:renal proximal tubule, endothelial cell PMID:15737001|REF_RGD_ID:2307215 11820688 CD36 CD36 molecule gene DOID:9002331 Knee Osteoarthritis ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:19342682|REF_RGD_ID:6893565 11820688 CD36 CD36 molecule gene DOID:9002331 Knee Osteoarthritis disease_progression ISO RGD:619554 D RGD:9068941 20200609 RGD PMID:21765106|REF_RGD_ID:6893494 11820688 CD36 CD36 molecule gene DOID:9002554 Tachycardia ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:26579575|REF_RGD_ID:11041119 11820688 CD36 CD36 molecule gene DOID:9002676 Cerebral Hemorrhage ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:19064796|REF_RGD_ID:6893504 11820688 CD36 CD36 molecule gene DOID:9003936 Cardiomegaly treatment ISO RGD:619555 D RGD:9068941 20200609 RGD associated with Obesity PMID:26036798|REF_RGD_ID:11040928 11820688 CD36 CD36 molecule gene DOID:9004009 Reperfusion Injury ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 11820688 CD36 CD36 molecule gene DOID:9004484 Sepsis ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:22327076|REF_RGD_ID:6893490 11820688 CD36 CD36 molecule gene DOID:9004610 Acute Lung Injury ISO RGD:619555 D RGD:9068941 20200609 RGD associated with Malaria PMID:18483551|REF_RGD_ID:6893505 11820688 CD36 CD36 molecule gene DOID:9004657 Weight Gain ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11820688 CD36 CD36 molecule gene DOID:9005176 Retroperitoneal Fibrosis ISO RGD:619554 D RGD:9068941 20200609 RGD PMID:16014033|REF_RGD_ID:6893538 11820688 CD36 CD36 molecule gene DOID:9005372 Inflammation ISO RGD:619555 D RGD:9068941 20200609 RGD associated with Fatty Liver PMID:22470565|REF_RGD_ID:6893488 11820688 CD36 CD36 molecule gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2301 D RGD:9068941 20200609 RGD mRNA:increased expression:multiple organs PMID:16838191|REF_RGD_ID:2307214 11820688 CD36 CD36 molecule gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:23691525|REF_RGD_ID:11041145 11820688 CD36 CD36 molecule gene DOID:9006013 Hematoma ISO RGD:619554 D RGD:9068941 20200609 RGD associated with Cerebral Hemorrhage PMID:24808360|REF_RGD_ID:11040930 11820688 CD36 CD36 molecule gene DOID:9006013 Hematoma treatment ISO RGD:619555 D RGD:9068941 20200609 RGD associated with Cerebral Hemorrhage PMID:24808360|REF_RGD_ID:11040930 11820688 CD36 CD36 molecule gene DOID:9006646 Metabolic Syndrome ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:9916795|REF_RGD_ID:619666 11820688 CD36 CD36 molecule gene DOID:9006646 Metabolic Syndrome ISO RGD:619554 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:18305138|REF_RGD_ID:2307208 11820688 CD36 CD36 molecule gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:24280415|REF_RGD_ID:11041117 11820688 CD36 CD36 molecule gene DOID:9007096 Stroke ISO RGD:619554 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868 11820688 CD36 CD36 molecule gene DOID:9007102 Myocardial Ischemia ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11820688 CD36 CD36 molecule gene DOID:9007692 Insulin Resistance ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:11175782|PMID:25477422|REF_RGD_ID:11041132|REF_RGD_ID:68930 11820688 CD36 CD36 molecule gene DOID:9007692 Insulin Resistance ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14640889 11820688 CD36 CD36 molecule gene DOID:9007692 Insulin Resistance ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:12923231|REF_RGD_ID:11040926 11820688 CD36 CD36 molecule gene DOID:9007692 Insulin Resistance ISO RGD:619555 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:15231693|REF_RGD_ID:2307217 11820688 CD36 CD36 molecule gene DOID:9008885 Staphylococcal Infections ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15690042 11820688 CD36 CD36 molecule gene DOID:9182 pemphigus ISO RGD:619554 D RGD:9068941 20200609 RGD PMID:21255096|REF_RGD_ID:5490304 11820688 CD36 CD36 molecule gene DOID:9351 diabetes mellitus ISO RGD:619555 D RGD:9068941 20200609 RGD protein:increased expression:macrophage PMID:17551591|REF_RGD_ID:2307209 11820688 CD36 CD36 molecule gene DOID:9352 type 2 diabetes mellitus ISO RGD:619554 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:16911630|PMID:16952981|PMID:25741868|PMID:32347024|PMID:32796572 11820688 CD36 CD36 molecule gene DOID:9352 type 2 diabetes mellitus severity ISO RGD:619554 D RGD:9068941 20200609 RGD DNA:SNP:promoter, rs1527479 (human) PMID:16911630|REF_RGD_ID:2307213 11820688 CD36 CD36 molecule gene DOID:9452 fatty liver disease ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:19788606|REF_RGD_ID:6893500 11820688 CD36 CD36 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:619555 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:7544802|REF_RGD_ID:2307219 11820688 CD36 CD36 molecule gene DOID:9970 obesity ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:25477422|REF_RGD_ID:11041132 11820688 CD36 CD36 molecule gene DOID:9970 obesity ISO RGD:2301 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, gastrocnemius PMID:20435456|REF_RGD_ID:6893497 11820688 CD36 CD36 molecule gene DOID:9970 obesity ISO RGD:2301 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle, T-tubule PMID:23743348|REF_RGD_ID:11041118 11820688 CD36 CD36 molecule gene DOID:9970 obesity ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:22615812|REF_RGD_ID:6893542 11820729 GPAT2 glycerol-3-phosphate acyltransferase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1601718 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11820733 PHC2 polyhomeotic homolog 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1317380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11820733 PHC2 polyhomeotic homolog 2 gene DOID:630 genetic disease ISO RGD:1317380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11820776 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:0050534 congenital stationary night blindness ISO RGD:731992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:11281458|PMID:17525176|PMID:22194652|PMID:24124559|PMID:25307992|PMID:25741868|PMID:26992781|PMID:28041643|PMID:28492532|PMID:30825406|PMID:9662399|PMID:9662400 11820776 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:0050572 cone-rod dystrophy ISO RGD:731992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:28492532|PMID:30718709 11820776 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:0050572 cone-rod dystrophy ISO RGD:731992 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868|PMID:28492532|PMID:30718709 11820776 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:0050630 Aland Island eye disease ISO RGD:731992 D RGD:7240710 20180130 OMIM 11820776 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:0050630 Aland Island eye disease ISO RGD:731992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ocular albinism, type II PMID:11281458|PMID:14230113|PMID:16199547|PMID:17525176|PMID:22183355|PMID:22194652|PMID:24124559|PMID:25307992|PMID:25741868|PMID:26747767|PMID:26992781|PMID:28002560|PMID:28341476|PMID:28492532|PMID:28838317|PMID:30718709|PMID:30825406|PMID:9662399 11820776 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11820776 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:731992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 11820776 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:731992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11820776 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:731992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11820776 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:0110871 congenital stationary night blindness 2A ISO RGD:731992 D RGD:7240710 20180130 OMIM 11820776 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:0110871 congenital stationary night blindness 2A ISO RGD:731992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 2A | ClinVar Annotator: match by term: Congenital stationary night blindness, type 2A, severe | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2 PMID:10900517|PMID:11281458|PMID:12111638|PMID:12187427|PMID:12719097|PMID:15807819|PMID:15897456|PMID:17525176|PMID:17949918|PMID:19578023|PMID:22194652|PMID:23714322|PMID:24033266|PMID:24051672|PMID:24124559|PMID:25307992|PMID:25741868|PMID:26747767|PMID:26992781|PMID:28002560|PMID:28041643|PMID:28492532|PMID:30576320|PMID:30718709|PMID:30825406|PMID:33037074|PMID:9529339|PMID:9662399|PMID:9662400 11820776 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:0111007 X-linked cone-rod dystrophy 3 ISO RGD:731992 D RGD:7240710 20180130 OMIM 11820776 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:0111007 X-linked cone-rod dystrophy 3 ISO RGD:731992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: X-linked cone-rod dystrophy 3 PMID:11281458|PMID:15897456|PMID:17525176|PMID:22194652|PMID:23776498|PMID:24124559|PMID:25307992|PMID:25741868|PMID:26992781|PMID:28492532|PMID:29127258|PMID:29854783|PMID:30718709|PMID:30825406|PMID:31651202|PMID:9662399 11820776 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:731992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11820776 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:731992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 11820776 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:10584 retinitis pigmentosa ISO RGD:731992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:30718709 11820776 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:10584 retinitis pigmentosa ISO RGD:731992 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:30718709 11820776 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:11830 myopia ISO RGD:731992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868 11820776 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:12849 autistic disorder ISO RGD:731992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11820776 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:4448 macular degeneration ISO RGD:731992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:17576681|PMID:28492532|PMID:30718709|PMID:9536098 11820776 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:630 genetic disease ISO RGD:731992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11820776 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:8501 fundus dystrophy ISO RGD:731992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11281458|PMID:12552565|PMID:17525176|PMID:19578023|PMID:22194652|PMID:24124559|PMID:25307992|PMID:25741868|PMID:26992781|PMID:28002560|PMID:28041643|PMID:28492532|PMID:30718709|PMID:9662399 11820776 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:9008296 Eye Abnormalities ISO RGD:731992 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868|PMID:28041643 11820843 PAK2 p21 (RAC1) activated kinase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:62246 D RGD:9068941 20220825 MouseDO 11820843 PAK2 p21 (RAC1) activated kinase 2 gene DOID:0060074 ductal carcinoma in situ ISO RGD:732793 D RGD:9068941 20200609 RGD PMID:22886747|REF_RGD_ID:7775026 11820843 PAK2 p21 (RAC1) activated kinase 2 gene DOID:0060224 atrial fibrillation ISO RGD:732793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 11820843 PAK2 p21 (RAC1) activated kinase 2 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:732793 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 11820843 PAK2 p21 (RAC1) activated kinase 2 gene DOID:12849 autistic disorder ISO RGD:732793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11820843 PAK2 p21 (RAC1) activated kinase 2 gene DOID:5199 ureteral obstruction ISO RGD:61953 D RGD:9068941 20210312 RGD protein:increased activity:kidney: PMID:15629889|REF_RGD_ID:8693572 11820843 PAK2 p21 (RAC1) activated kinase 2 gene DOID:5419 schizophrenia ISO RGD:732793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11820843 PAK2 p21 (RAC1) activated kinase 2 gene DOID:576 proteinuria ISO RGD:732793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20071462 11820843 PAK2 p21 (RAC1) activated kinase 2 gene DOID:630 genetic disease ISO RGD:732793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11820843 PAK2 p21 (RAC1) activated kinase 2 gene DOID:9000127 Knobloch Syndrome Type II ISO RGD:732793 D RGD:7240710 20220810 OMIM 11820843 PAK2 p21 (RAC1) activated kinase 2 gene DOID:9002033 Knobloch Syndrome ISO RGD:732793 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Knobloch syndrome PMID:14695535|PMID:33693784|PMID:9677068 11820843 PAK2 p21 (RAC1) activated kinase 2 gene DOID:9006832 Puromycin Aminonucleoside Nephrosis ISO RGD:61953 D RGD:9068941 20210312 RGD PMID:20071462|REF_RGD_ID:9835041 11820843 PAK2 p21 (RAC1) activated kinase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732793 D RGD:9068941 20200609 RGD PMID:22886747|REF_RGD_ID:7775026 11820862 SPRY3 sprouty RTK signaling antagonist 3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1349769 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11820862 SPRY3 sprouty RTK signaling antagonist 3 gene DOID:12849 autistic disorder ISO RGD:1349769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Epsilon-trimethyllysine hydroxylase deficiency PMID:21681106|PMID:21865298|PMID:22566635|PMID:23092983|PMID:30208311 11820862 SPRY3 sprouty RTK signaling antagonist 3 gene DOID:3070 high grade glioma ISO RGD:1349769 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ependymoma PMID:29276006 11820862 SPRY3 sprouty RTK signaling antagonist 3 gene DOID:9002720 Splenomegaly ISO RGD:1349769 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11820871 PSD4 pleckstrin and Sec7 domain containing 4 gene DOID:630 genetic disease ISO RGD:1321104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11820928 NR2C1 nuclear receptor subfamily 2 group C member 1 gene DOID:289 endometriosis ISO RGD:1344559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 11820928 NR2C1 nuclear receptor subfamily 2 group C member 1 gene DOID:630 genetic disease ISO RGD:1344559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11820928 NR2C1 nuclear receptor subfamily 2 group C member 1 gene DOID:9006836 Contracture ISO RGD:1344559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 11820954 SLC25A33 solute carrier family 25 member 33 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1604265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11820954 SLC25A33 solute carrier family 25 member 33 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604265 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11820954 SLC25A33 solute carrier family 25 member 33 gene DOID:630 genetic disease ISO RGD:1604265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11820954 SLC25A33 solute carrier family 25 member 33 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11820964 AP3M2 adaptor related protein complex 3 subunit mu 2 gene DOID:0090039 torsion dystonia 6 ISO RGD:735940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 11820964 AP3M2 adaptor related protein complex 3 subunit mu 2 gene DOID:0111959 immunodeficiency 15B ISO RGD:735940 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 11820964 AP3M2 adaptor related protein complex 3 subunit mu 2 gene DOID:630 genetic disease ISO RGD:735940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11820964 AP3M2 adaptor related protein complex 3 subunit mu 2 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:735940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 11821001 CD28 CD28 molecule gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:735932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 11821001 CD28 CD28 molecule gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:735932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 11821001 CD28 CD28 molecule gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:735932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916|PMID:26258847 11821001 CD28 CD28 molecule gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:735932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11821001 CD28 CD28 molecule gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:735932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11821001 CD28 CD28 molecule gene DOID:10322 berylliosis ISO RGD:735932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12952926 11821001 CD28 CD28 molecule gene DOID:11713 diabetic angiopathy ISO RGD:735932 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:T cell PMID:15504310|REF_RGD_ID:2307197 11821001 CD28 CD28 molecule gene DOID:1240 leukemia ISO RGD:735932 D RGD:9068941 20200609 RGD PMID:19075187|REF_RGD_ID:5131619 11821001 CD28 CD28 molecule gene DOID:12662 paracoccidioidomycosis ISO RGD:10307 D RGD:9068941 20200609 RGD PMID:20713624|REF_RGD_ID:5131616 11821001 CD28 CD28 molecule gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:735932 D RGD:9068941 20200609 RGD PMID:18056387|REF_RGD_ID:5131621 11821001 CD28 CD28 molecule gene DOID:14557 primary pulmonary hypertension ISO RGD:735932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11821001 CD28 CD28 molecule gene DOID:2377 multiple sclerosis ISO RGD:735932 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-372G>A (human) PMID:14975605|REF_RGD_ID:1358478 11821001 CD28 CD28 molecule gene DOID:2841 asthma ISO RGD:735932 D RGD:9068941 20200609 RGD PMID:21356099|REF_RGD_ID:5131612 11821001 CD28 CD28 molecule gene DOID:3082 interstitial lung disease ISO RGD:735932 D RGD:9068941 20200609 RGD PMID:20030671|REF_RGD_ID:5131613 11821001 CD28 CD28 molecule gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735932 D RGD:9068941 20200609 RGD PMID:18057064|REF_RGD_ID:5131620 11821001 CD28 CD28 molecule gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735932 D RGD:9068941 20200609 RGD CD28 null allele is increased in COPD PMID:19220836|REF_RGD_ID:5131618 11821001 CD28 CD28 molecule gene DOID:3770 pulmonary fibrosis ISO RGD:10307 D RGD:9068941 20200609 RGD PMID:20395561|REF_RGD_ID:4892281 11821001 CD28 CD28 molecule gene DOID:417 autoimmune disease ISO RGD:735932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15494542|PMID:19077085 11821001 CD28 CD28 molecule gene DOID:4483 rhinitis ISO RGD:735932 D RGD:9068941 20200609 RGD PMID:21356099|REF_RGD_ID:5131612 11821001 CD28 CD28 molecule gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7492435 11821001 CD28 CD28 molecule gene DOID:614 lymphopenia ISO RGD:2299 D RGD:9068941 20200609 RGD PMID:12750179|REF_RGD_ID:2307205 11821001 CD28 CD28 molecule gene DOID:630 genetic disease ISO RGD:735932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11821001 CD28 CD28 molecule gene DOID:6432 pulmonary hypertension ISO RGD:735932 D RGD:9068941 20200609 RGD PMID:19075187|REF_RGD_ID:5131619 11821001 CD28 CD28 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:735932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19898481|PMID:20453842|PMID:23143596 11821001 CD28 CD28 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:735932 D RGD:9068941 20200609 RGD PMID:19075187|REF_RGD_ID:5131619 11821001 CD28 CD28 molecule gene DOID:8544 chronic fatigue syndrome ISO RGD:735932 D RGD:9068941 20200609 RGD PMID:18801465|REF_RGD_ID:5131614 11821001 CD28 CD28 molecule gene DOID:9001341 Chloracne ISO RGD:735932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 11821001 CD28 CD28 molecule gene DOID:9001488 Human Influenza ISO RGD:10307 D RGD:9068941 20200609 RGD PMID:21389258|REF_RGD_ID:5131611 11821001 CD28 CD28 molecule gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:735932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 11821001 CD28 CD28 molecule gene DOID:9002311 Experimental Autoimmune Myocarditis severity ISO RGD:10307 D RGD:9068941 20200609 RGD PMID:8759765|REF_RGD_ID:13702883 11821001 CD28 CD28 molecule gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:2299 D RGD:9068941 20200609 RGD PMID:19907173|REF_RGD_ID:13702882 11821001 CD28 CD28 molecule gene DOID:9002457 Experimental Arthritis ISO RGD:2299 D RGD:9068941 20200609 RGD PMID:18601859|REF_RGD_ID:2307202 11821001 CD28 CD28 molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2299 D RGD:9068941 20200609 RGD PMID:16061730|REF_RGD_ID:2307203 11821001 CD28 CD28 molecule gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11821001 CD28 CD28 molecule gene DOID:9004484 Sepsis severity ISO RGD:735932 D RGD:9068941 20200609 RGD Higher soluble CD28 in patients who died PMID:17989345|REF_RGD_ID:5131622 11821001 CD28 CD28 molecule gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10307 D RGD:9068941 20200609 RGD PMID:11160314|REF_RGD_ID:2307200 11821001 CD28 CD28 molecule gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:2299 D RGD:9068941 20200609 RGD PMID:12864982|REF_RGD_ID:2307204 11821001 CD28 CD28 molecule gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:735932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11821001 CD28 CD28 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:10307 D RGD:9068941 20200609 RGD PMID:9410902|REF_RGD_ID:2307201 11821001 CD28 CD28 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:735932 D RGD:9068941 20200609 RGD protein:decreased expression:T cell PMID:15504310|REF_RGD_ID:2307197 11821001 CD28 CD28 molecule gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:735932 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:11685455|REF_RGD_ID:2307199 11821015 MORF4L1 mortality factor 4 like 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1317423 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11821015 MORF4L1 mortality factor 4 like 1 gene DOID:2717 Bloom syndrome ISO RGD:1317423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11821015 MORF4L1 mortality factor 4 like 1 gene DOID:630 genetic disease ISO RGD:1317423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11821015 MORF4L1 mortality factor 4 like 1 gene DOID:9256 colorectal cancer ISO RGD:1317423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11821032 EEF2 eukaryotic translation elongation factor 2 gene DOID:0050975 spinocerebellar ataxia type 26 ISO RGD:1343628 D RGD:7240710 20180130 OMIM 11821032 EEF2 eukaryotic translation elongation factor 2 gene DOID:0050975 spinocerebellar ataxia type 26 ISO RGD:1343628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 26 PMID:15732118|PMID:23001565|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33355653 11821032 EEF2 eukaryotic translation elongation factor 2 gene DOID:0080600 COVID-19 ISO RGD:1343628 D RGD:9068941 20200709 RGD mRNA:decreased expression:antibody secreting B cells (human) PMID:32377375|REF_RGD_ID:32716422 11821032 EEF2 eukaryotic translation elongation factor 2 gene DOID:10283 prostate cancer ISO RGD:1343628 D RGD:9068941 20220728 RGD protein:increased expression:prostate (human) PMID:24589652|REF_RGD_ID:153297816 11821032 EEF2 eukaryotic translation elongation factor 2 gene DOID:10534 stomach cancer ISO RGD:1343628 D RGD:9068941 20220728 RGD protein:increased expression:stomach (human) PMID:24589652|REF_RGD_ID:153297816 11821032 EEF2 eukaryotic translation elongation factor 2 gene DOID:10534 stomach cancer disease_progression ISO RGD:1343628 D RGD:9068941 20220804 RGD human cells in mouse model PMID:19360331|REF_RGD_ID:153298969 11821032 EEF2 eukaryotic translation elongation factor 2 gene DOID:10652 Alzheimer's disease ISO RGD:1343628 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:brain: PMID:1331687|REF_RGD_ID:10401652 11821032 EEF2 eukaryotic translation elongation factor 2 gene DOID:13938 amenorrhea ISO RGD:1343628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11821032 EEF2 eukaryotic translation elongation factor 2 gene DOID:1686 glaucoma ISO RGD:1343628 D RGD:9068941 20200609 RGD associated with Exfoliation Syndrome; PMID:20107165|REF_RGD_ID:10401222 11821032 EEF2 eukaryotic translation elongation factor 2 gene DOID:1996 rectum adenocarcinoma ISO RGD:1343628 D RGD:9068941 20220804 RGD protein:increased expression:rectum (human) PMID:19360331|REF_RGD_ID:153298969 11821032 EEF2 eukaryotic translation elongation factor 2 gene DOID:234 colon adenocarcinoma ISO RGD:1343628 D RGD:9068941 20220804 RGD protein:increased expression:colon(human) PMID:19360331|REF_RGD_ID:153298969 11821032 EEF2 eukaryotic translation elongation factor 2 gene DOID:299 adenocarcinoma ISO RGD:1343628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21554491 11821032 EEF2 eukaryotic translation elongation factor 2 gene DOID:3073 brain glioblastoma multiforme ISO RGD:1343628 D RGD:9068941 20220728 RGD protein:increased expression:brain (human) PMID:24589652|REF_RGD_ID:153297816 11821032 EEF2 eukaryotic translation elongation factor 2 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:1343628 D RGD:9068941 20220728 RGD protein:increased expression:lung (human) PMID:27542262|REF_RGD_ID:153298910 11821032 EEF2 eukaryotic translation elongation factor 2 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1343628 D RGD:9068941 20220728 RGD protein:increased expression:blood serum (human) PMID:24377563|REF_RGD_ID:153298905 11821032 EEF2 eukaryotic translation elongation factor 2 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1343628 D RGD:9068941 20220728 RGD protein:increased expression:lung (human) PMID:21554491|REF_RGD_ID:153298904 11821032 EEF2 eukaryotic translation elongation factor 2 gene DOID:4450 renal cell carcinoma ISO RGD:1343628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 11821032 EEF2 eukaryotic translation elongation factor 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1343628 D RGD:9068941 20220728 RGD protein:increased expression:lung (human) PMID:24589652|REF_RGD_ID:153297816 11821032 EEF2 eukaryotic translation elongation factor 2 gene DOID:630 genetic disease ISO RGD:1343628 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 11821032 EEF2 eukaryotic translation elongation factor 2 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1343628 D RGD:9068941 20220804 RGD protein:increased expression, increased phosphorylation:liver (human) PMID:28060762|REF_RGD_ID:153298915 11821032 EEF2 eukaryotic translation elongation factor 2 gene DOID:8398 osteoarthritis ISO RGD:1343628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11821032 EEF2 eukaryotic translation elongation factor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1343628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 11821032 EEF2 eukaryotic translation elongation factor 2 gene DOID:9002801 Recurrence ISO RGD:1343628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21554491 11821032 EEF2 eukaryotic translation elongation factor 2 gene DOID:9004009 Reperfusion Injury ISO RGD:61979 D RGD:9068941 20200609 RGD protein:hypophosphorylation:cortex, hippocampus: PMID:15211596|REF_RGD_ID:10401223 11821032 EEF2 eukaryotic translation elongation factor 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1343628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21554491 11821032 EEF2 eukaryotic translation elongation factor 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1343628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21554491 11821032 EEF2 eukaryotic translation elongation factor 2 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:61979 D RGD:9068941 20200609 RGD protein:decreased expression:cardiac muscle: PMID:7513958|REF_RGD_ID:10401649 11821032 EEF2 eukaryotic translation elongation factor 2 gene DOID:9007980 Sleep Deprivation ISO RGD:61979 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:prefrontal cortex, dentate gyrus; PMID:22917528|REF_RGD_ID:10401259 11821032 EEF2 eukaryotic translation elongation factor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1343628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 11821032 EEF2 eukaryotic translation elongation factor 2 gene DOID:9256 colorectal cancer ISO RGD:1343628 D RGD:9068941 20220728 RGD protein:increased expression:colon (human) PMID:24589652|REF_RGD_ID:153297816 11821051 RASSF7 Ras association domain family member 7 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1314751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11821051 RASSF7 Ras association domain family member 7 gene DOID:0050729 neutral lipid storage disease ISO RGD:1314751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 11821051 RASSF7 Ras association domain family member 7 gene DOID:0080773 delta beta-thalassemia ISO RGD:1314751 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11821051 RASSF7 Ras association domain family member 7 gene DOID:0111969 immunodeficiency 39 ISO RGD:1314751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11821051 RASSF7 Ras association domain family member 7 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1314751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11821051 RASSF7 Ras association domain family member 7 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1314751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11821051 RASSF7 Ras association domain family member 7 gene DOID:630 genetic disease ISO RGD:1314751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11821076 RAP1B RAP1B, member of RAS oncogene family gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620577 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus (rat) PMID:12196513|REF_RGD_ID:10041023 11821091 EPHX1 epoxide hydrolase 1 gene DOID:0014667 disease of metabolism ISO RGD:736560 D RGD:9068941 20200609 RGD familial hypercholanemia,OMIM:607748;DNA:point mutations:promoter, intron PMID:12878321|REF_RGD_ID:1601066 11821091 EPHX1 epoxide hydrolase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736560 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11821091 EPHX1 epoxide hydrolase 1 gene DOID:0060058 lymphoma ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11406608 11821091 EPHX1 epoxide hydrolase 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11406608 11821091 EPHX1 epoxide hydrolase 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:11406608|REF_RGD_ID:1601063 11821091 EPHX1 epoxide hydrolase 1 gene DOID:0080001 bone disease ISO RGD:736560 D RGD:9068941 20200609 RGD associated with Multiple Myeloma;DNA:SNP PMID:19657367|REF_RGD_ID:11252112 11821091 EPHX1 epoxide hydrolase 1 gene DOID:10320 asbestosis susceptibility ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.Y113H (rs1051740) (human) PMID:17159790|REF_RGD_ID:4889408 11821091 EPHX1 epoxide hydrolase 1 gene DOID:10591 pre-eclampsia ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11283205|PMID:12173035 11821091 EPHX1 epoxide hydrolase 1 gene DOID:10591 pre-eclampsia ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:11283205|REF_RGD_ID:1601064 11821091 EPHX1 epoxide hydrolase 1 gene DOID:10652 Alzheimer's disease ISO RGD:736560 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:16630050|REF_RGD_ID:5688388 11821091 EPHX1 epoxide hydrolase 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNPs PMID:19252927|REF_RGD_ID:2315930 11821091 EPHX1 epoxide hydrolase 1 gene DOID:1227 neutropenia ISO RGD:736560 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 11821091 EPHX1 epoxide hydrolase 1 gene DOID:12449 aplastic anemia disease_progression ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human) PMID:26999617|REF_RGD_ID:11252120 11821091 EPHX1 epoxide hydrolase 1 gene DOID:12449 aplastic anemia susceptibility ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.H139R (human) PMID:21228718|REF_RGD_ID:11252118 11821091 EPHX1 epoxide hydrolase 1 gene DOID:14330 Parkinson's disease ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.Y113H (human) PMID:10720475|REF_RGD_ID:5490167 11821091 EPHX1 epoxide hydrolase 1 gene DOID:14330 Parkinson's disease no_association ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:missense mutations:exons:p.Y113H (499T>C), p.H139R (578A>G) (human) PMID:11692079|REF_RGD_ID:5688390 11821091 EPHX1 epoxide hydrolase 1 gene DOID:1485 cystic fibrosis ISO RGD:736560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucoviscidosis PMID:12704386|PMID:17532303|PMID:19017876|PMID:23426996|PMID:7516776|PMID:9288046 11821091 EPHX1 epoxide hydrolase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:736560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11821091 EPHX1 epoxide hydrolase 1 gene DOID:1579 respiratory system disease ISO RGD:736560 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:14593914|REF_RGD_ID:4889126 11821091 EPHX1 epoxide hydrolase 1 gene DOID:1790 malignant mesothelioma ISO RGD:736560 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:16697254 11821091 EPHX1 epoxide hydrolase 1 gene DOID:2355 anemia treatment ISO RGD:736560 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms PMID:24533712|REF_RGD_ID:11097078 11821091 EPHX1 epoxide hydrolase 1 gene DOID:2841 asthma susceptibility ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human) PMID:17711870|REF_RGD_ID:4889407 11821091 EPHX1 epoxide hydrolase 1 gene DOID:305 carcinoma ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11821091 EPHX1 epoxide hydrolase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9288046 11821091 EPHX1 epoxide hydrolase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:9288046|REF_RGD_ID:1601065 11821091 EPHX1 epoxide hydrolase 1 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.H139R (rs2234922) (human) PMID:20932192|REF_RGD_ID:4889120 11821091 EPHX1 epoxide hydrolase 1 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:18614560|REF_RGD_ID:4889122 11821091 EPHX1 epoxide hydrolase 1 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human) PMID:17564249|REF_RGD_ID:4889123 11821091 EPHX1 epoxide hydrolase 1 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human) PMID:18811882|REF_RGD_ID:4889121 11821091 EPHX1 epoxide hydrolase 1 gene DOID:3602 toxic encephalopathy susceptibility ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.H139R (human) PMID:17022435|REF_RGD_ID:5490249 11821091 EPHX1 epoxide hydrolase 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:736560 D RGD:9068941 20200609 RGD PMID:17273734|REF_RGD_ID:4889124 11821091 EPHX1 epoxide hydrolase 1 gene DOID:5022 aflatoxins-related hepatocellular carcinoma ISO RGD:2557 D RGD:9068941 20220707 RGD associated with estrogen excess;protein:increased activity;liver (rat) PMID:6133380|REF_RGD_ID:152998935 11821091 EPHX1 epoxide hydrolase 1 gene DOID:630 genetic disease ISO RGD:736560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11821091 EPHX1 epoxide hydrolase 1 gene DOID:670 amphetamine abuse ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19598248 11821091 EPHX1 epoxide hydrolase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7892276 11821091 EPHX1 epoxide hydrolase 1 gene DOID:705 Leber hereditary optic neuropathy onset ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Y113H (human) PMID:15838728|REF_RGD_ID:5688732 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9000972 Fever ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31422080 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2557 D RGD:9068941 20200609 RGD PMID:7260898|REF_RGD_ID:11252158 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17919073|PMID:21716162|PMID:24763052 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9003566 Mesothelioma ISO RGD:736560 D RGD:9068941 20200609 RGD PMID:16697254|REF_RGD_ID:4889125 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9004464 Skin Neoplasms ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26295053 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9004610 Acute Lung Injury ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26840748 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17114358|PMID:17311802 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9005961 Familial Hypercholanemia 1 ISO RGD:736560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholanemia, familial 1 PMID:25326635|PMID:25741868 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22156006 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29298899 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9007118 Familial Hypercholanemia ISO RGD:736560 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:12878321 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9007828 Abnormalities, Drug-Induced ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2336087 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29605894 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:p.Y113H, p.H139R (human) PMID:11849215|REF_RGD_ID:11252119 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9119 acute myeloid leukemia no_association ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNPs:exon:rs1051740, rs2234922 (human) PMID:22200898|REF_RGD_ID:11252114 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9119 acute myeloid leukemia no_association ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:20731606|REF_RGD_ID:11252115 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9538 multiple myeloma ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16949155 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9538 multiple myeloma no_association ISO RGD:736560 D RGD:9068941 20200609 RGD PMID:19736056|REF_RGD_ID:11252116 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9538 multiple myeloma no_association ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs2234922 (human) PMID:24521996|REF_RGD_ID:11252122 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9538 multiple myeloma susceptibility ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human) PMID:16949155|REF_RGD_ID:11252121 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9675 pulmonary emphysema ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9288046 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9675 pulmonary emphysema ISO RGD:736560 D RGD:9068941 20200609 RGD PMID:12579334|REF_RGD_ID:4889405 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9675 pulmonary emphysema ISO RGD:736560 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive;DNA:SNPs (human) PMID:20525719|REF_RGD_ID:4140935 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9675 pulmonary emphysema no_association ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human) PMID:10853854|REF_RGD_ID:4889406 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9675 pulmonary emphysema susceptibility ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.Y113H (rs1051740) (human) PMID:9288046|REF_RGD_ID:1601065 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983886 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNPs:exon:rs1051740, rs2234922 (human) PMID:22200898|REF_RGD_ID:11252114 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:missense mutation, haplotype:exon:p.H139R (human) PMID:21983886|REF_RGD_ID:11252110 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:736560 D RGD:9068941 20200609 RGD PMID:19593802|REF_RGD_ID:11252111 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:missense mutation, haplotype:exon:p.Y113H (human) PMID:21983886|REF_RGD_ID:11252110 11821091 EPHX1 epoxide hydrolase 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:polymorphisms:exon PMID:22930568|REF_RGD_ID:11252113 11821163 ACTG2 actin gamma 2, smooth muscle gene DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome ISO RGD:737318 D RGD:7240710 20180130 OMIM 11821163 ACTG2 actin gamma 2, smooth muscle gene DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome ISO RGD:737318 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome | ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal PMID:23806086|PMID:24088041|PMID:24337657|PMID:24676022|PMID:25326635|PMID:25741868|PMID:25998219|PMID:26072522|PMID:26647307|PMID:26813947|PMID:27007401|PMID:28422808|PMID:29781137|PMID:30019982|PMID:31769566|PMID:33294969 11821163 ACTG2 actin gamma 2, smooth muscle gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:737318 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11821163 ACTG2 actin gamma 2, smooth muscle gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:737318 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction | ClinVar Annotator: match by term: Intestinal pseudo-obstruction | ClinVar Annotator: match by term: Visceral myopathy PMID:11474115|PMID:21681106|PMID:22960657|PMID:23806086|PMID:24088041|PMID:24337657|PMID:24676022|PMID:24777424|PMID:25326635|PMID:25741868|PMID:25998219|PMID:26072522|PMID:26647307|PMID:26813947|PMID:26938784|PMID:27007401|PMID:27481187|PMID:28422808|PMID:29387497|PMID:29608093|PMID:29781137|PMID:31769566|PMID:32814715|PMID:33294969 11821163 ACTG2 actin gamma 2, smooth muscle gene DOID:0080682 autosomal dominant familial visceral neuropathy ISO RGD:737318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visceral neuropathy, familial, autosomal dominant PMID:23806086|PMID:24088041|PMID:24337657|PMID:24676022|PMID:25326635|PMID:25741868|PMID:25998219|PMID:26072522|PMID:26647307|PMID:26813947|PMID:27007401|PMID:28422808|PMID:29781137|PMID:31769566|PMID:33294969 11821163 ACTG2 actin gamma 2, smooth muscle gene DOID:2018 hyperinsulinism ISO RGD:737318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperinsulinism PMID:23806086|PMID:24088041|PMID:24337657|PMID:24676022|PMID:25741868|PMID:25998219|PMID:26072522|PMID:26647307|PMID:26813947|PMID:27007401|PMID:28422808|PMID:29781137|PMID:31769566|PMID:33294969 11821163 ACTG2 actin gamma 2, smooth muscle gene DOID:543 dystonia ISO RGD:737318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11821163 ACTG2 actin gamma 2, smooth muscle gene DOID:630 genetic disease ISO RGD:737318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11474115|PMID:23806086|PMID:24088041|PMID:24337657|PMID:24676022|PMID:25741868|PMID:25998219|PMID:26072522|PMID:26647307|PMID:26813947|PMID:27007401|PMID:27481187|PMID:28422808|PMID:29781137|PMID:31769566|PMID:33294969 11821163 ACTG2 actin gamma 2, smooth muscle gene DOID:8437 intestinal obstruction ISO RGD:737318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intestinal obstruction PMID:22960657|PMID:24777424|PMID:25741868|PMID:29781137 11821163 ACTG2 actin gamma 2, smooth muscle gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:737318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11821163 ACTG2 actin gamma 2, smooth muscle gene DOID:9000803 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 ISO RGD:737318 D RGD:7240710 20210728 OMIM 11821163 ACTG2 actin gamma 2, smooth muscle gene DOID:9000803 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 ISO RGD:737318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 PMID:11474115|PMID:23806086|PMID:24088041|PMID:24337657|PMID:24676022|PMID:25326635|PMID:25741868|PMID:25998219|PMID:26072522|PMID:26647307|PMID:26813947|PMID:27007401|PMID:27481187|PMID:28422808|PMID:29608093|PMID:29781137|PMID:31769566|PMID:33294969 11821163 ACTG2 actin gamma 2, smooth muscle gene DOID:9000807 Megaduodenum ISO RGD:737318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacystis PMID:23806086|PMID:24088041|PMID:24337657|PMID:24676022|PMID:25741868|PMID:25998219|PMID:26072522|PMID:26647307|PMID:26813947|PMID:27007401|PMID:27481187|PMID:28422808|PMID:29781137|PMID:31769566|PMID:33294969 11821163 ACTG2 actin gamma 2, smooth muscle gene DOID:9002025 Familial Visceral Myopathy ISO RGD:737318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22960657 11821163 ACTG2 actin gamma 2, smooth muscle gene DOID:9002928 Colonic Neoplasms ISO RGD:737318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 11821181 LOC100969293 gem-associated protein 4 gene DOID:0081263 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities ISO RGD:1344278 D RGD:7240710 20190918 OMIM 11821181 LOC100969293 gem-associated protein 4 gene DOID:0081263 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities ISO RGD:1344278 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities PMID:25558065|PMID:25741868|PMID:27878435|PMID:30237576 11821181 LOC100969293 gem-associated protein 4 gene DOID:10907 microcephaly ISO RGD:1344278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25558065|PMID:25741868|PMID:27878435 11821181 LOC100969293 gem-associated protein 4 gene DOID:630 genetic disease ISO RGD:1344278 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11821181 LOC100969293 gem-associated protein 4 gene DOID:83 cataract ISO RGD:1344278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25558065|PMID:25741868|PMID:27878435 11821181 LOC100969293 gem-associated protein 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1344278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065|PMID:25741868|PMID:27878435 11821195 STEAP2 STEAP2 metalloreductase gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:1316016 D RGD:9068941 20200609 RGD protein:increased expression:spinal chord PMID:19656261|REF_RGD_ID:13524567 11821195 STEAP2 STEAP2 metalloreductase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11821195 STEAP2 STEAP2 metalloreductase gene DOID:630 genetic disease ISO RGD:1316015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11821218 GNPDA2 glucosamine-6-phosphate deaminase 2 gene DOID:630 genetic disease ISO RGD:1313596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11821218 GNPDA2 glucosamine-6-phosphate deaminase 2 gene DOID:9007633 Body Weight ISO RGD:1313596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344219 11821218 GNPDA2 glucosamine-6-phosphate deaminase 2 gene DOID:9970 obesity ISO RGD:1313596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19079261 11821234 ITGA11 integrin subunit alpha 11 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1323311 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11821234 ITGA11 integrin subunit alpha 11 gene DOID:1793 pancreatic cancer ISO RGD:1323311 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:18772397|REF_RGD_ID:5490966 11821234 ITGA11 integrin subunit alpha 11 gene DOID:2717 Bloom syndrome ISO RGD:1323311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11821234 ITGA11 integrin subunit alpha 11 gene DOID:630 genetic disease ISO RGD:1323311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11821234 ITGA11 integrin subunit alpha 11 gene DOID:9256 colorectal cancer ISO RGD:1323311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11821267 USP43 ubiquitin specific peptidase 43 gene DOID:630 genetic disease ISO RGD:1317758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11821292 C16H16orf82 chromosome 16 C16orf82 homolog gene DOID:630 genetic disease ISO RGD:1602175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11821297 ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif 8 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1318322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11821297 ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif 8 gene DOID:13501 Moebius syndrome ISO RGD:1318322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 11821297 ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif 8 gene DOID:5419 schizophrenia ISO RGD:1318322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11821297 ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif 8 gene DOID:630 genetic disease ISO RGD:1318322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11821297 ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif 8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318322 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11821297 ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif 8 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1318322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11821297 ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11821297 ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif 8 gene DOID:9007661 Dwarfism ISO RGD:1318322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11821314 CNGA3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:0050572 cone-rod dystrophy ISO RGD:733295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:11536077|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30289319 11821314 CNGA3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:0050795 cone dystrophy ISO RGD:733295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:18521937|PMID:25741868|PMID:26493561|PMID:28041643|PMID:28492532|PMID:30289319 11821314 CNGA3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:0110007 achromatopsia 2 ISO RGD:733295 D RGD:7240710 20180130 OMIM 11821314 CNGA3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:0110007 achromatopsia 2 ISO RGD:733295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Achromatopsia 2 | ClinVar Annotator: match by term: Rod monochromacy 2 PMID:11536077|PMID:14715947|PMID:14757870|PMID:15712225|PMID:15743887|PMID:15980212|PMID:16199547|PMID:16961972|PMID:17265047|PMID:17576681|PMID:17693388|PMID:18445228|PMID:18521937|PMID:20079539|PMID:20088482|PMID:20238023|PMID:20506298|PMID:20549516|PMID:21268679|PMID:21778272|PMID:21901789|PMID:21912902|PMID:22995991|PMID:23972307|PMID:24033266|PMID:24148654|PMID:24504161|PMID:24676353|PMID:24903488|PMID:24906859|PMID:25052312|PMID:25168900|PMID:25616768|PMID:25637600|PMID:25741868|PMID:25943428|PMID:26106334|PMID:26355662|PMID:26407004|PMID:26493561|PMID:26992781|PMID:27208204|PMID:27820752|PMID:28041643|PMID:28159970|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29053603|PMID:29099798|PMID:29165669|PMID:29618791|PMID:30289319|PMID:30337596|PMID:30653986|PMID:30682209|PMID:30711023|PMID:31456290|PMID:32783370|PMID:32913385|PMID:33546218|PMID:9536098|PMID:9662398 11821314 CNGA3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:13399 color blindness ISO RGD:733295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Color vision defect PMID:11536077|PMID:17693388|PMID:20238023|PMID:25741868|PMID:26992781|PMID:28492532 11821314 CNGA3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:13911 achromatopsia ISO RGD:733295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:11536077|PMID:14757870|PMID:15712225|PMID:16961972|PMID:17265047|PMID:17576681|PMID:17693388|PMID:18445228|PMID:18521937|PMID:20079539|PMID:20088482|PMID:20238023|PMID:20506298|PMID:20549516|PMID:21778272|PMID:22995991|PMID:23972307|PMID:24033266|PMID:24148654|PMID:24504161|PMID:24903488|PMID:25168900|PMID:25616768|PMID:25637600|PMID:25741868|PMID:25943428|PMID:26992781|PMID:27820752|PMID:28159970|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29053603|PMID:29618791|PMID:30418171|PMID:30653986|PMID:30682209|PMID:30711023|PMID:31456290|PMID:32913385|PMID:9536098|PMID:9662398 11821314 CNGA3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:4448 macular degeneration ISO RGD:733295 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:11536077|PMID:17693388|PMID:18445228|PMID:23972307|PMID:24033266|PMID:25741868|PMID:28341476|PMID:28492532|PMID:28559085|PMID:30653986|PMID:30682209 11821314 CNGA3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:630 genetic disease ISO RGD:733295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11536077|PMID:17265047|PMID:17693388|PMID:18521937|PMID:23972307|PMID:24033266|PMID:24504161|PMID:24903488|PMID:25616768|PMID:28492532|PMID:29618791|PMID:31456290|PMID:9662398 11821314 CNGA3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:8501 fundus dystrophy ISO RGD:733295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11536077|PMID:14757870|PMID:15712225|PMID:15743887|PMID:15980212|PMID:16961972|PMID:17265047|PMID:17693388|PMID:18445228|PMID:18521937|PMID:20088482|PMID:20238023|PMID:20506298|PMID:21268679|PMID:21778272|PMID:23972307|PMID:24033266|PMID:24148654|PMID:24504161|PMID:24676353|PMID:24903488|PMID:24906859|PMID:25168900|PMID:25283059|PMID:25616768|PMID:25637600|PMID:25741868|PMID:25943428|PMID:26407004|PMID:26493561|PMID:26992781|PMID:27208204|PMID:27820752|PMID:28041643|PMID:28159970|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29099798|PMID:29618791|PMID:30289319|PMID:30337596|PMID:30653986|PMID:30682209|PMID:30711023|PMID:31456290|PMID:33546218|PMID:9662398 11821314 CNGA3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:9003656 Achromatopsia 1 ISO RGD:733295 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:c.682G>A (p.E228K), c.1315C>T (p.R439W), c.1405G>A (p.A469T) (human) PMID:18521937|REF_RGD_ID:9068452 11821314 CNGA3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:9008296 Eye Abnormalities ISO RGD:733295 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:11536077|PMID:15743887|PMID:17693388|PMID:18445228|PMID:23972307|PMID:24033266|PMID:25741868|PMID:28041643|PMID:28341476|PMID:28492532|PMID:28559085|PMID:30653986|PMID:30682209 11821333 GSG1L GSG1 like gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 11821333 GSG1L GSG1 like gene DOID:630 genetic disease ISO RGD:1604995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11821346 DNM1L dynamin 1 like gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:733618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:28492532 11821346 DNM1L dynamin 1 like gene DOID:0070347 encephalopathy due to defective mitochondrial and peroxisomal fission 1 ISO RGD:733618 D RGD:7240710 20180130 OMIM 11821346 DNM1L dynamin 1 like gene DOID:0070347 encephalopathy due to defective mitochondrial and peroxisomal fission 1 ISO RGD:733618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 PMID:17460227|PMID:18414213|PMID:20696759|PMID:25326635|PMID:25741868|PMID:26604000|PMID:26825290|PMID:26931468|PMID:26992161|PMID:27145208|PMID:27328748|PMID:28492532|PMID:29877124|PMID:30801875|PMID:30850373|PMID:31475481|PMID:31587467 11821346 DNM1L dynamin 1 like gene DOID:0080099 myopathy, lactic acidosis, and sideroblastic anemia ISO RGD:733618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia PMID:25741868|PMID:28492532 11821346 DNM1L dynamin 1 like gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:733618 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:27066507|PMID:28492532 11821346 DNM1L dynamin 1 like gene DOID:0110823 hereditary spastic paraplegia 8 ISO RGD:733618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 PMID:25741868 11821346 DNM1L dynamin 1 like gene DOID:0111186 myopathy, lactic acidosis, and sideroblastic anemia 2 ISO RGD:733618 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 PMID:25741868|PMID:28492532 11821346 DNM1L dynamin 1 like gene DOID:0111438 optic atrophy 5 ISO RGD:733618 D RGD:7240710 20190315 OMIM 11821346 DNM1L dynamin 1 like gene DOID:0111438 optic atrophy 5 ISO RGD:733618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Optic atrophy 5 PMID:15635063|PMID:16199547|PMID:20696759|PMID:25741868|PMID:26604000|PMID:26825290|PMID:27145208|PMID:27328748|PMID:28492532|PMID:28969390|PMID:29110115|PMID:29877124|PMID:30850373 11821346 DNM1L dynamin 1 like gene DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome ISO RGD:733618 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome PMID:25741868 11821346 DNM1L dynamin 1 like gene DOID:10652 Alzheimer's disease ISO RGD:733618 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus (human) PMID:19605646|REF_RGD_ID:7800727 11821346 DNM1L dynamin 1 like gene DOID:10907 microcephaly ISO RGD:733618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17460227 11821346 DNM1L dynamin 1 like gene DOID:12930 dilated cardiomyopathy ISO RGD:733619 D RGD:9068941 20220825 MouseDO 11821346 DNM1L dynamin 1 like gene DOID:13711 dental fluorosis ISO RGD:620416 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:frontal cortex (rat) PMID:23007560|REF_RGD_ID:12738230 11821346 DNM1L dynamin 1 like gene DOID:14330 Parkinson's disease ISO RGD:733618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28215578 11821346 DNM1L dynamin 1 like gene DOID:3650 lactic acidosis ISO RGD:733618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17460227 11821346 DNM1L dynamin 1 like gene DOID:3770 pulmonary fibrosis ISO RGD:620416 D RGD:9068941 20200710 RGD mRNA,protein:increased expression:lung,mitochondrion PMID:25284615|REF_RGD_ID:35673291 11821346 DNM1L dynamin 1 like gene DOID:3770 pulmonary fibrosis ISO RGD:733618 D RGD:9068941 20200710 RGD protein:increased expression:lung PMID:25284615|REF_RGD_ID:35673291 11821346 DNM1L dynamin 1 like gene DOID:5723 optic atrophy ISO RGD:733618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17460227 11821346 DNM1L dynamin 1 like gene DOID:630 genetic disease ISO RGD:733618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20696759|PMID:25741868|PMID:26604000|PMID:26931468|PMID:27145208|PMID:28492532|PMID:29877124|PMID:31587467 11821346 DNM1L dynamin 1 like gene DOID:700 mitochondrial metabolism disease ISO RGD:733618 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial disease 11821346 DNM1L dynamin 1 like gene DOID:784 chronic kidney disease treatment ISO RGD:620416 D RGD:9068941 20200609 RGD PMID:27801955|REF_RGD_ID:12738369 11821346 DNM1L dynamin 1 like gene DOID:820 myocarditis ISO RGD:733618 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34365571 11821346 DNM1L dynamin 1 like gene DOID:890 mitochondrial encephalomyopathy ISO RGD:733618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17460227 11821346 DNM1L dynamin 1 like gene DOID:9000220 Coxsackievirus Infections ISO RGD:733618 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34365571 11821346 DNM1L dynamin 1 like gene DOID:9005526 Pulmonary Edema of Mountaineers ISO RGD:620416 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:23517027|REF_RGD_ID:12738217 11821346 DNM1L dynamin 1 like gene DOID:9007102 Myocardial Ischemia ISO RGD:733618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11821346 DNM1L dynamin 1 like gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:733619 D RGD:9068941 20230429 RGD PMID:30259997|REF_RGD_ID:329337366 11821346 DNM1L dynamin 1 like gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:620416 D RGD:9068941 20200609 RGD PMID:21820301|REF_RGD_ID:11561956 11821346 DNM1L dynamin 1 like gene DOID:9970 obesity ISO RGD:733618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:26825290|PMID:27328748|PMID:28492532 11821388 SYT8 synaptotagmin 8 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1347431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11821388 SYT8 synaptotagmin 8 gene DOID:0080773 delta beta-thalassemia ISO RGD:1347431 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11821388 SYT8 synaptotagmin 8 gene DOID:0111969 immunodeficiency 39 ISO RGD:1347431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11821388 SYT8 synaptotagmin 8 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1347431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11821388 SYT8 synaptotagmin 8 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1347431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11821388 SYT8 synaptotagmin 8 gene DOID:630 genetic disease ISO RGD:1347431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11821388 SYT8 synaptotagmin 8 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1347431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11821415 OSBPL1A oxysterol binding protein like 1A gene DOID:1059 intellectual disability ISO RGD:731675 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11821415 OSBPL1A oxysterol binding protein like 1A gene DOID:630 genetic disease ISO RGD:731675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11821460 LOC100977566 cytochrome b5 reductase 4 gene DOID:630 genetic disease ISO RGD:733318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11821460 LOC100977566 cytochrome b5 reductase 4 gene DOID:9351 diabetes mellitus ISO RGD:1622875 D RGD:9068941 20200609 RGD PMID:15247412|REF_RGD_ID:2315644 11821460 LOC100977566 cytochrome b5 reductase 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1622875 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 11821460 LOC100977566 cytochrome b5 reductase 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733318 D RGD:9068941 20200609 RGD DNA:deletion:intron:IVSV+7TC (human) PMID:15504981|REF_RGD_ID:2315647 11821489 ZNG1B Zn regulated GTPase metalloprotein activator 1B gene DOID:630 genetic disease ISO RGD:1352030 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11821491 PHPT1 phosphohistidine phosphatase 1 gene DOID:0050777 Joubert syndrome ISO RGD:1322769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11821491 PHPT1 phosphohistidine phosphatase 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1322769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11821491 PHPT1 phosphohistidine phosphatase 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1322769 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11821491 PHPT1 phosphohistidine phosphatase 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1322769 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11821491 PHPT1 phosphohistidine phosphatase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1322769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11821491 PHPT1 phosphohistidine phosphatase 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1322769 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11821491 PHPT1 phosphohistidine phosphatase 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1322769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 11821491 PHPT1 phosphohistidine phosphatase 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1322769 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11821491 PHPT1 phosphohistidine phosphatase 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1322769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11821491 PHPT1 phosphohistidine phosphatase 1 gene DOID:3652 Leigh disease ISO RGD:1322769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11821491 PHPT1 phosphohistidine phosphatase 1 gene DOID:630 genetic disease ISO RGD:1322769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11821491 PHPT1 phosphohistidine phosphatase 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1322769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11821496 PRPSAP2 phosphoribosyl pyrophosphate synthetase associated protein 2 gene DOID:0050777 Joubert syndrome ISO RGD:732905 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11821496 PRPSAP2 phosphoribosyl pyrophosphate synthetase associated protein 2 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:732905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 11821496 PRPSAP2 phosphoribosyl pyrophosphate synthetase associated protein 2 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:732905 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 11821496 PRPSAP2 phosphoribosyl pyrophosphate synthetase associated protein 2 gene DOID:12849 autistic disorder ISO RGD:732905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11821496 PRPSAP2 phosphoribosyl pyrophosphate synthetase associated protein 2 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:732905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 11821541 BRIX1 biogenesis of ribosomes BRX1 gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:1605358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:28492532 11821541 BRIX1 biogenesis of ribosomes BRX1 gene DOID:630 genetic disease ISO RGD:1605358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11821541 BRIX1 biogenesis of ribosomes BRX1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11821555 WASF3 WASP family member 3 gene DOID:630 genetic disease ISO RGD:1346468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11821555 WASF3 WASP family member 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1346468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11821555 WASF3 WASP family member 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11821571 RDH8 retinol dehydrogenase 8 gene DOID:12849 autistic disorder ISO RGD:1319361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11821571 RDH8 retinol dehydrogenase 8 gene DOID:630 genetic disease ISO RGD:1319361 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11821581 ZNF506 zinc finger protein 506 gene DOID:630 genetic disease ISO RGD:1344770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11821589 ARMCX5 armadillo repeat containing X-linked 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11821589 ARMCX5 armadillo repeat containing X-linked 5 gene DOID:12849 autistic disorder ISO RGD:1350791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11821589 ARMCX5 armadillo repeat containing X-linked 5 gene DOID:630 genetic disease ISO RGD:1350791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11821622 NKAIN4 sodium/potassium transporting ATPase interacting 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1314067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11821622 NKAIN4 sodium/potassium transporting ATPase interacting 4 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1314067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11821622 NKAIN4 sodium/potassium transporting ATPase interacting 4 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1314067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11821622 NKAIN4 sodium/potassium transporting ATPase interacting 4 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1314067 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11821622 NKAIN4 sodium/potassium transporting ATPase interacting 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1314067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11821622 NKAIN4 sodium/potassium transporting ATPase interacting 4 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1314067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 11821622 NKAIN4 sodium/potassium transporting ATPase interacting 4 gene DOID:630 genetic disease ISO RGD:1314067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11821631 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:733138 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11821631 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:0060180 colitis ISO RGD:70547 D RGD:9068941 20200609 RGD PMID:21330446|REF_RGD_ID:5490987 11821631 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:0060180 colitis ISO RGD:70547 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:intestine, myenteric nerve plexus PMID:17586086|REF_RGD_ID:5131259 11821631 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:733138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 11821631 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:10763 hypertension ISO RGD:733138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10742107 11821631 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:1596 depressive disorder ISO RGD:70547 D RGD:9068941 20200609 RGD PMID:20860876|REF_RGD_ID:5147490 11821631 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:2030 anxiety disorder ISO RGD:733138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10742108 11821631 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:2841 asthma ISO RGD:733138 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:18408560|REF_RGD_ID:5130938 11821631 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:326 ischemia ISO RGD:70547 D RGD:9068941 20200609 RGD PMID:19429103|REF_RGD_ID:5130953 11821631 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:3877 functional colonic disease ISO RGD:70547 D RGD:9068941 20200609 RGD PMID:20096320|REF_RGD_ID:5130948 11821631 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:4483 rhinitis ISO RGD:733138 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:nasal cavity epithelium PMID:17597629|REF_RGD_ID:5130940 11821631 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11821631 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:552 pneumonia ISO RGD:733139 D RGD:9068941 20200609 RGD PMID:16855006|REF_RGD_ID:5130933 11821631 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:630 genetic disease ISO RGD:733138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11821631 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:767 muscular atrophy ISO RGD:70547 D RGD:9068941 20200609 RGD PMID:21235761|REF_RGD_ID:5130936 11821631 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:850 lung disease ISO RGD:733138 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16855006 11821631 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:9001109 Anorexia ISO RGD:70547 D RGD:9068941 20200609 RGD PMID:17050037|REF_RGD_ID:5131264 11821631 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:9001109 Anorexia ISO RGD:733138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17627984 11821631 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:733139 D RGD:9068941 20200609 RGD PMID:21774994|REF_RGD_ID:5147472 11821631 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:70547 D RGD:9068941 20200609 RGD mRNA:decreased expression:left ventricle (rat) PMID:11087261|REF_RGD_ID:1642796 11821631 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:9005372 Inflammation ISO RGD:733138 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16855006 11821631 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:733138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17437087 11821631 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:9006024 Hypotension ISO RGD:70547 D RGD:9068941 20200609 RGD PMID:11036160|REF_RGD_ID:1581302 11821631 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:9007877 Fetal Hypoxia ISO RGD:70547 D RGD:9068941 20200609 RGD protein:decreased expression:paraventricular nucleus of hypothalamus (rat) PMID:19409200|REF_RGD_ID:5491006 11821631 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:9778 irritable bowel syndrome ISO RGD:70547 D RGD:9068941 20200609 RGD associated with Anxiety Disorders; protein:decreased expression:distal colon (rat) PMID:20096320|REF_RGD_ID:5130948 11821659 RAB22A RAB22A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1323682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11821680 ASB17 ankyrin repeat and SOCS box containing 17 gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:1343895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:28492532 11821680 ASB17 ankyrin repeat and SOCS box containing 17 gene DOID:630 genetic disease ISO RGD:1343895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11821689 CNOT9 CCR4-NOT transcription complex subunit 9 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1322982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11821689 CNOT9 CCR4-NOT transcription complex subunit 9 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1322982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11821689 CNOT9 CCR4-NOT transcription complex subunit 9 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1322982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11821689 CNOT9 CCR4-NOT transcription complex subunit 9 gene DOID:2526 prostate adenocarcinoma ISO RGD:1322982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:26619011 11821689 CNOT9 CCR4-NOT transcription complex subunit 9 gene DOID:2671 transitional cell carcinoma ISO RGD:1322982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:26619011 11821689 CNOT9 CCR4-NOT transcription complex subunit 9 gene DOID:3717 gastric adenocarcinoma ISO RGD:1322982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:26619011 11821689 CNOT9 CCR4-NOT transcription complex subunit 9 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1322982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11821689 CNOT9 CCR4-NOT transcription complex subunit 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1322982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:26619011 11821689 CNOT9 CCR4-NOT transcription complex subunit 9 gene DOID:8923 skin melanoma ISO RGD:1322982 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:25741868|PMID:26619011 11821689 CNOT9 CCR4-NOT transcription complex subunit 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322982 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: CNOT9-associated neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26619011 11821706 GLTPD2 glycolipid transfer protein domain containing 2 gene DOID:630 genetic disease ISO RGD:1604453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11821718 ZNF618 zinc finger protein 618 gene DOID:630 genetic disease ISO RGD:1321825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11821762 PRXL2B peroxiredoxin like 2B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1603910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11821762 PRXL2B peroxiredoxin like 2B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11821762 PRXL2B peroxiredoxin like 2B gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1603910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11821762 PRXL2B peroxiredoxin like 2B gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1603910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11821762 PRXL2B peroxiredoxin like 2B gene DOID:0110994 Joubert syndrome 25 ISO RGD:1603910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11821762 PRXL2B peroxiredoxin like 2B gene DOID:0111934 immunodeficiency 38 ISO RGD:1603910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11821762 PRXL2B peroxiredoxin like 2B gene DOID:0111935 immunodeficiency 16 ISO RGD:1603910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11821762 PRXL2B peroxiredoxin like 2B gene DOID:10316 pneumoconiosis ISO RGD:1603910 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 11821762 PRXL2B peroxiredoxin like 2B gene DOID:630 genetic disease ISO RGD:1603910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11821762 PRXL2B peroxiredoxin like 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11821762 PRXL2B peroxiredoxin like 2B gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1603910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11821762 PRXL2B peroxiredoxin like 2B gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1603910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11821773 CEBPG CCAAT enhancer binding protein gamma gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:735927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11821773 CEBPG CCAAT enhancer binding protein gamma gene DOID:630 genetic disease ISO RGD:735927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11821782 NFKBIZ NFKB inhibitor zeta gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1553089 D RGD:9068941 20220825 MouseDO 11821782 NFKBIZ NFKB inhibitor zeta gene DOID:3310 atopic dermatitis ISO RGD:1553089 D RGD:9068941 20220825 MouseDO OMIM:603165 11821782 NFKBIZ NFKB inhibitor zeta gene DOID:630 genetic disease ISO RGD:1350232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11821782 NFKBIZ NFKB inhibitor zeta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11821807 ZAN zonadhesin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11821807 ZAN zonadhesin gene DOID:630 genetic disease ISO RGD:1312837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11821855 CAVIN4 caveolae associated protein 4 gene DOID:1059 intellectual disability ISO RGD:1606650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11821861 FNTB farnesyltransferase, CAAX box, beta gene DOID:630 genetic disease ISO RGD:736901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11821861 FNTB farnesyltransferase, CAAX box, beta gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736901 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 11821881 TMEM94 transmembrane protein 94 gene DOID:10283 prostate cancer ISO RGD:1605409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11821881 TMEM94 transmembrane protein 94 gene DOID:630 genetic disease ISO RGD:1605409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11821881 TMEM94 transmembrane protein 94 gene DOID:9001399 Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies ISO RGD:1605409 D RGD:7240710 20190417 OMIM 11821881 TMEM94 transmembrane protein 94 gene DOID:9001399 Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies ISO RGD:1605409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with cardiac defects and dysmorphic facies | ClinVar Annotator: match by term: TMEM94-related condition PMID:25741868|PMID:28097321|PMID:30526868|PMID:32825426 11821881 TMEM94 transmembrane protein 94 gene DOID:9006534 Nervous System Malformations ISO RGD:1605409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11821941 PLRG1 pleiotropic regulator 1 gene DOID:630 genetic disease ISO RGD:733629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11821960 ANKRD27 ankyrin repeat domain 27 gene DOID:13922 eosinophilic esophagitis ISO RGD:1316102 D RGD:9068941 20200609 RGD DNA:SNPs:intron: (rs3815700, rs10410895) (human) PMID:25407941|REF_RGD_ID:11100048 11821960 ANKRD27 ankyrin repeat domain 27 gene DOID:630 genetic disease ISO RGD:1316102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822000 HRG histidine rich glycoprotein gene DOID:0060575 3MC syndrome 1 ISO RGD:736906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 11822000 HRG histidine rich glycoprotein gene DOID:0060903 thrombosis ISO RGD:736906 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombus PMID:25741868|PMID:34355501 11822000 HRG histidine rich glycoprotein gene DOID:0111903 thrombophilia due to HRG deficiency ISO RGD:736906 D RGD:7240710 20180130 OMIM 11822000 HRG histidine rich glycoprotein gene DOID:0111903 thrombophilia due to HRG deficiency ISO RGD:736906 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency PMID:11057869|PMID:25741868|PMID:29108964|PMID:34355501|PMID:9414276 11822000 HRG histidine rich glycoprotein gene DOID:2213 hemorrhagic disease ISO RGD:736906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 11822000 HRG histidine rich glycoprotein gene DOID:4074 pancreatic adenocarcinoma disease_progression ISO RGD:736906 D RGD:9068941 20200609 RGD PMID:21713765|REF_RGD_ID:11041886 11822000 HRG histidine rich glycoprotein gene DOID:630 genetic disease ISO RGD:736906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822000 HRG histidine rich glycoprotein gene DOID:9008939 Breast Neoplasms ISO RGD:736906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19552798 11822027 MDP1 magnesium dependent phosphatase 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1601722 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11822027 MDP1 magnesium dependent phosphatase 1 gene DOID:10283 prostate cancer ISO RGD:1601722 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11822027 MDP1 magnesium dependent phosphatase 1 gene DOID:630 genetic disease ISO RGD:1601722 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822027 MDP1 magnesium dependent phosphatase 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1601722 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11822027 MDP1 magnesium dependent phosphatase 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1601722 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11822052 RTL10 retrotransposon Gag like 10 gene DOID:0060041 autism spectrum disorder ISO RGD:1606220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11822052 RTL10 retrotransposon Gag like 10 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1606220 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 11822052 RTL10 retrotransposon Gag like 10 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1606220 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 11822052 RTL10 retrotransposon Gag like 10 gene DOID:0111996 immunodeficiency 51 ISO RGD:1606220 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11822052 RTL10 retrotransposon Gag like 10 gene DOID:1059 intellectual disability ISO RGD:1606220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11822052 RTL10 retrotransposon Gag like 10 gene DOID:11198 DiGeorge syndrome ISO RGD:1606220 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 11822052 RTL10 retrotransposon Gag like 10 gene DOID:11372 megacolon ISO RGD:1606220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11822052 RTL10 retrotransposon Gag like 10 gene DOID:12583 velocardiofacial syndrome ISO RGD:1606220 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 11822052 RTL10 retrotransposon Gag like 10 gene DOID:12849 autistic disorder ISO RGD:1606220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11822052 RTL10 retrotransposon Gag like 10 gene DOID:12930 dilated cardiomyopathy ISO RGD:1606220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 11822052 RTL10 retrotransposon Gag like 10 gene DOID:1826 epilepsy ISO RGD:1606220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11822052 RTL10 retrotransposon Gag like 10 gene DOID:2213 hemorrhagic disease ISO RGD:1606220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 11822052 RTL10 retrotransposon Gag like 10 gene DOID:5419 schizophrenia ISO RGD:1606220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11822052 RTL10 retrotransposon Gag like 10 gene DOID:612 primary immunodeficiency disease ISO RGD:1606220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11822052 RTL10 retrotransposon Gag like 10 gene DOID:9003871 Venous Thrombosis ISO RGD:1606220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 11822052 RTL10 retrotransposon Gag like 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11822052 RTL10 retrotransposon Gag like 10 gene DOID:9007661 Dwarfism ISO RGD:1606220 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11822052 RTL10 retrotransposon Gag like 10 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1606220 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735910 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:0080745 polymyositis ISO RGD:735910 D RGD:9068941 20200609 RGD protein:expression:serum PMID:22394569|REF_RGD_ID:9491763 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:0080855 Parkinsonism ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:19368990|REF_RGD_ID:4891964 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735910 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:10223 dermatomyositis ISO RGD:735910 D RGD:9068941 20200609 RGD protein:expression:serum PMID:22394569|REF_RGD_ID:9491763 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:10457 Legionnaires' disease ISO RGD:731691 D RGD:9068941 20200609 RGD PMID:16113250|REF_RGD_ID:4891897 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:10459 common cold ISO RGD:735910 D RGD:9068941 20200609 RGD PMID:20696083|REF_RGD_ID:4140458 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:10762 portal hypertension ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:21347560|REF_RGD_ID:9491791 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:1205 allergic disease ISO RGD:735910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:13141 uveitis ISO RGD:620458 D RGD:9068941 20200609 RGD associated with Endotoxemia;mRNA, protein:increased expression:retina PMID:19648777|REF_RGD_ID:4891945 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:1679 cystitis ISO RGD:620458 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder urothelium PMID:16651033|REF_RGD_ID:4891972 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:1824 status epilepticus treatment ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:21481949|REF_RGD_ID:9491789 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:735910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:224 transient cerebral ischemia ISO RGD:620458 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:24447880|REF_RGD_ID:9491776 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:2527 nephrosis ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:19590241|REF_RGD_ID:4891946 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:2841 asthma ISO RGD:735910 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:14657873|REF_RGD_ID:4891906 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:2913 acute pancreatitis treatment ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:22213034|REF_RGD_ID:9491790 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:2921 glomerulonephritis ISO RGD:620458 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:glomerulus, urine PMID:14605272|REF_RGD_ID:4891995 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:326 ischemia ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:18006432|REF_RGD_ID:4892022 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:3310 atopic dermatitis ISO RGD:735910 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15131578|REF_RGD_ID:9491761 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:418 systemic scleroderma ISO RGD:735910 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15608300|REF_RGD_ID:4891898 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:4483 rhinitis ISO RGD:735910 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:14657873|REF_RGD_ID:4891906 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:620458 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:glomerulus PMID:19590241|REF_RGD_ID:4891946 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:5154 borna disease ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:12053272|REF_RGD_ID:4891998 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:552 pneumonia ISO RGD:735910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:630 genetic disease ISO RGD:735910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:6432 pulmonary hypertension ISO RGD:620458 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:18630689|REF_RGD_ID:4891889 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:6432 pulmonary hypertension ISO RGD:735910 D RGD:9068941 20200609 RGD associated with Heart Defects, Congenital PMID:20869263|REF_RGD_ID:4891883 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:6432 pulmonary hypertension ISO RGD:735910 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19948918|REF_RGD_ID:4891887 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:649 prion disease ISO RGD:620458 D RGD:9068941 20200609 RGD protein:increased expression:astrocyte PMID:11870871|REF_RGD_ID:4892001 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:7148 rheumatoid arthritis ISO RGD:735910 D RGD:9068941 20200609 RGD PMID:11465708|REF_RGD_ID:4892002 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:820 myocarditis ISO RGD:620458 D RGD:9068941 20200609 RGD mRNA:increased expression:cardiac muscle cell PMID:16018993|REF_RGD_ID:4891990 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:850 lung disease ISO RGD:620458 D RGD:9068941 20200609 RGD Acute Lung Injury associated with Endotoxemia;mRNA:increased expression:lung PMID:17302066|REF_RGD_ID:4891892 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:8515 Cor pulmonale ISO RGD:735910 D RGD:9068941 20200609 RGD PMID:20669672|REF_RGD_ID:4143386 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:8544 chronic fatigue syndrome ISO RGD:735910 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:26615570|REF_RGD_ID:11538286 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:900 hepatopulmonary syndrome ISO RGD:620458 D RGD:9068941 20200609 RGD protein:increased expression:lung, plasma PMID:22659346|REF_RGD_ID:9491778 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9000598 Cranial Nerve Injuries ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:15153618|REF_RGD_ID:4891994 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9002211 Hyperalgesia ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:19249394|REF_RGD_ID:2304251 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9002211 Hyperalgesia treatment ISO RGD:620458 D RGD:9068941 20200609 RGD associated with Arthritis, Experimental PMID:22647647|REF_RGD_ID:9491779 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9002457 Experimental Arthritis ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:11465708|REF_RGD_ID:4892002 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9002699 Periapical Diseases ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:23829599|REF_RGD_ID:9491793 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:16053521|REF_RGD_ID:4891973 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9004009 Reperfusion Injury ISO RGD:620458 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:19563789|REF_RGD_ID:4891956 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9004538 Hearing Loss ISO RGD:731691 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:cochlea PMID:24781382|REF_RGD_ID:9491762 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9005070 Microscopic Polyangiitis severity ISO RGD:735910 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19327232|REF_RGD_ID:9491765 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620458 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:15153757|REF_RGD_ID:4891992 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20388520 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:620458 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:iris, ciliary body, aqueous humor PMID:16030495|REF_RGD_ID:9479740 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9005665 Chronic Mesangial Proliferative Glomerulonephritis ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:12028445|REF_RGD_ID:9491783 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9005930 Endotoxemia ISO RGD:620458 D RGD:9068941 20200609 RGD protein:increased expression:atrium endocardium PMID:19282612|REF_RGD_ID:4891965 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:620458 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord PMID:21224760|REF_RGD_ID:4891907 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:18448252|REF_RGD_ID:4891968 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:735910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9007244 Paramyxoviridae Infections ISO RGD:731691 D RGD:9068941 20200609 RGD PMID:20053825|REF_RGD_ID:4891886 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9477 pulmonary embolism treatment ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:23578461|REF_RGD_ID:9491777 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9675 pulmonary emphysema ISO RGD:731691 D RGD:9068941 20200609 RGD PMID:18772344|REF_RGD_ID:4891888 11822114 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9810 polyarteritis nodosa ISO RGD:735910 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:23470165|REF_RGD_ID:9068463 11822128 CCDC17 coiled-coil domain containing 17 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11822128 CCDC17 coiled-coil domain containing 17 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1603565 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs2275085) T>C (human) PMID:27354594|REF_RGD_ID:152177496 11822128 CCDC17 coiled-coil domain containing 17 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11822128 CCDC17 coiled-coil domain containing 17 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11822128 CCDC17 coiled-coil domain containing 17 gene DOID:630 genetic disease ISO RGD:1603565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822151 NT5C2 5'-nucleotidase, cytosolic II gene DOID:0110797 hereditary spastic paraplegia 45 ISO RGD:1322721 D RGD:7240710 20180130 OMIM 11822151 NT5C2 5'-nucleotidase, cytosolic II gene DOID:0110797 hereditary spastic paraplegia 45 ISO RGD:1322721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 45 PMID:16199547|PMID:17576681|PMID:19415352|PMID:24482476|PMID:25741868|PMID:28492532|PMID:29123918|PMID:32214227|PMID:9536098 11822151 NT5C2 5'-nucleotidase, cytosolic II gene DOID:10907 microcephaly ISO RGD:1322721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11822151 NT5C2 5'-nucleotidase, cytosolic II gene DOID:2476 hereditary spastic paraplegia ISO RGD:1322721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11822151 NT5C2 5'-nucleotidase, cytosolic II gene DOID:630 genetic disease ISO RGD:1322721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11822151 NT5C2 5'-nucleotidase, cytosolic II gene DOID:9002801 Recurrence ISO RGD:1322721 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23377183 11822151 NT5C2 5'-nucleotidase, cytosolic II gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322721 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11822151 NT5C2 5'-nucleotidase, cytosolic II gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1322721 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 11822151 NT5C2 5'-nucleotidase, cytosolic II gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1322721 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23377183 11822213 LOC100968432 cytochrome b-c1 complex subunit 9 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1604015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 11822213 LOC100968432 cytochrome b-c1 complex subunit 9 gene DOID:630 genetic disease ISO RGD:1604015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822213 LOC100968432 cytochrome b-c1 complex subunit 9 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1604015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:21876083|PMID:24713400|PMID:28492532 11822224 LOC100969533 histone H2B type W-T gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11822224 LOC100969533 histone H2B type W-T gene DOID:12849 autistic disorder ISO RGD:1606133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11822224 LOC100969533 histone H2B type W-T gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1606133 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:1720927|PMID:9633722|PMID:9634530 11822224 LOC100969533 histone H2B type W-T gene DOID:630 genetic disease ISO RGD:1606133 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822231 MGAM2 maltase-glucoamylase 2 (putative) gene DOID:10487 Hirschsprung's disease ISO RGD:9849972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 11822283 SERINC2 serine incorporator 2 gene DOID:630 genetic disease ISO RGD:1322836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822304 HIRIP3 HIRA interacting protein 3 gene DOID:0060019 coronin-1A deficiency ISO RGD:1315096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11822304 HIRIP3 HIRA interacting protein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1315096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 11822304 HIRIP3 HIRA interacting protein 3 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1315096 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 11822304 HIRIP3 HIRA interacting protein 3 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1315096 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 11822304 HIRIP3 HIRA interacting protein 3 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1315096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11822304 HIRIP3 HIRA interacting protein 3 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1315096 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 11822304 HIRIP3 HIRA interacting protein 3 gene DOID:12849 autistic disorder ISO RGD:1315096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11822304 HIRIP3 HIRA interacting protein 3 gene DOID:1882 atrial heart septal defect ISO RGD:1315096 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 11822304 HIRIP3 HIRA interacting protein 3 gene DOID:5419 schizophrenia ISO RGD:1315096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11822304 HIRIP3 HIRA interacting protein 3 gene DOID:630 genetic disease ISO RGD:1315096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822304 HIRIP3 HIRA interacting protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11822304 HIRIP3 HIRA interacting protein 3 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1315096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11822304 HIRIP3 HIRA interacting protein 3 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1315096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 11822317 ANKRD6 ankyrin repeat domain 6 gene DOID:630 genetic disease ISO RGD:1317569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822356 PPP1R18 protein phosphatase 1 regulatory subunit 18 gene DOID:11372 megacolon ISO RGD:1319936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11822356 PPP1R18 protein phosphatase 1 regulatory subunit 18 gene DOID:630 genetic disease ISO RGD:1319936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822356 PPP1R18 protein phosphatase 1 regulatory subunit 18 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11822364 PSMA1 proteasome 20S subunit alpha 1 gene DOID:1059 intellectual disability ISO RGD:733996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11822364 PSMA1 proteasome 20S subunit alpha 1 gene DOID:630 genetic disease ISO RGD:733996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822385 TMEM156 transmembrane protein 156 gene DOID:630 genetic disease ISO RGD:1605045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822385 TMEM156 transmembrane protein 156 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1605045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 11822399 NDUFA7 NADH:ubiquinone oxidoreductase subunit A7 gene DOID:0080490 mucolipidosis type IV ISO RGD:1312128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 11822399 NDUFA7 NADH:ubiquinone oxidoreductase subunit A7 gene DOID:12849 autistic disorder ISO RGD:1312128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11822399 NDUFA7 NADH:ubiquinone oxidoreductase subunit A7 gene DOID:630 genetic disease ISO RGD:1312128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822410 SHROOM4 shroom family member 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11822410 SHROOM4 shroom family member 4 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1606521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 11822410 SHROOM4 shroom family member 4 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1606521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11822410 SHROOM4 shroom family member 4 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1606521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11822410 SHROOM4 shroom family member 4 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1606521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11822410 SHROOM4 shroom family member 4 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1606521 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:12673656|PMID:16249884|PMID:18414213|PMID:23757202|PMID:23871722|PMID:25670966|PMID:25741868|PMID:26740508|PMID:36209347 11822410 SHROOM4 shroom family member 4 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1606521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 11822410 SHROOM4 shroom family member 4 gene DOID:1059 intellectual disability ISO RGD:1606521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25741868 11822410 SHROOM4 shroom family member 4 gene DOID:12849 autistic disorder ISO RGD:1606521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11822410 SHROOM4 shroom family member 4 gene DOID:630 genetic disease ISO RGD:1606521 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:23757202|PMID:25741868|PMID:28492532 11822447 TNFSF13B TNF superfamily member 13b gene DOID:0080600 COVID-19 ISO RGD:1345205 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11822447 TNFSF13B TNF superfamily member 13b gene DOID:12894 Sjogren's syndrome ISO RGD:1557043 D RGD:9068941 20220825 MouseDO OMIM:270150 11822447 TNFSF13B TNF superfamily member 13b gene DOID:2986 IgA glomerulonephritis ISO RGD:1557043 D RGD:9068941 20220825 MouseDO OMIM:161950 | OMIM:616818 11822447 TNFSF13B TNF superfamily member 13b gene DOID:630 genetic disease ISO RGD:1345205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822447 TNFSF13B TNF superfamily member 13b gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1345205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11822447 TNFSF13B TNF superfamily member 13b gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1345205 D RGD:9068941 20200609 RGD PMID:30660173|REF_RGD_ID:27095888 11822458 TMEM72 transmembrane protein 72 gene DOID:630 genetic disease ISO RGD:1354072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822472 SLC44A1 solute carrier family 44 member 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1352703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 11822472 SLC44A1 solute carrier family 44 member 1 gene DOID:3070 high grade glioma ISO RGD:1352703 D RGD:9068941 20200609 RGD DNA:gene fusion: : PMID:26671581|REF_RGD_ID:11087038 11822472 SLC44A1 solute carrier family 44 member 1 gene DOID:630 genetic disease ISO RGD:1352703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822472 SLC44A1 solute carrier family 44 member 1 gene DOID:9002043 Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline ISO RGD:1352703 D RGD:7240710 20200805 OMIM 11822472 SLC44A1 solute carrier family 44 member 1 gene DOID:9002043 Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline ISO RGD:1352703 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline PMID:25741868|PMID:28097321|PMID:31855247 11822472 SLC44A1 solute carrier family 44 member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11822496 KLRG2 killer cell lectin like receptor G2 gene DOID:0080690 RASopathy ISO RGD:1604700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 11822496 KLRG2 killer cell lectin like receptor G2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11822496 KLRG2 killer cell lectin like receptor G2 gene DOID:630 genetic disease ISO RGD:1604700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822505 AMIGO2 adhesion molecule with Ig like domain 2 gene DOID:1909 melanoma treatment ISO RGD:1553273 D RGD:9068941 20200609 RGD PMID:26553931|REF_RGD_ID:14392781 11822505 AMIGO2 adhesion molecule with Ig like domain 2 gene DOID:3717 gastric adenocarcinoma ISO RGD:736884 D RGD:9068941 20200609 RGD mRNA:increased expression:serosa of stomach (human) PMID:15107827|REF_RGD_ID:13838842 11822505 AMIGO2 adhesion molecule with Ig like domain 2 gene DOID:630 genetic disease ISO RGD:736884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822505 AMIGO2 adhesion molecule with Ig like domain 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1553273 D RGD:9068941 20200609 RGD Liver Metastasis PMID:28272394|REF_RGD_ID:14394499 11822505 AMIGO2 adhesion molecule with Ig like domain 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis severity ISO RGD:1553273 D RGD:9068941 20200609 RGD PMID:28119027|REF_RGD_ID:14392778 11822505 AMIGO2 adhesion molecule with Ig like domain 2 gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:1553273 D RGD:9068941 20200609 RGD PMID:26553931|REF_RGD_ID:14392781 11822515 NAT9 N-acetyltransferase 9 (putative) gene DOID:630 genetic disease ISO RGD:1606805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822554 FOXA2 forkhead box A2 gene DOID:2018 hyperinsulinism ISO RGD:10719 D RGD:9068941 20200609 RGD PMID:11445544|REF_RGD_ID:2313243 11822554 FOXA2 forkhead box A2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605726 D RGD:9068941 20220407 RGD mRNA:decreased expression:lung PMID:26658322|REF_RGD_ID:11554787 11822554 FOXA2 forkhead box A2 gene DOID:630 genetic disease ISO RGD:1605726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11822554 FOXA2 forkhead box A2 gene DOID:850 lung disease ISO RGD:1605726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16863852 11822554 FOXA2 forkhead box A2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11822554 FOXA2 forkhead box A2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2808 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney cortex PMID:19433262|REF_RGD_ID:2312358 11822554 FOXA2 forkhead box A2 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:1605726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16863852 11822554 FOXA2 forkhead box A2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1605726 D RGD:9068941 20200609 RGD DNA:SNP, repeat: :rs1055080 (human) PMID:18797817|REF_RGD_ID:2313242 11822554 FOXA2 forkhead box A2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1605726 D RGD:9068941 20200609 RGD DNA:missense mutation:p.A86T (human) PMID:11043867|REF_RGD_ID:2313245 11822554 FOXA2 forkhead box A2 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1605726 D RGD:9068941 20200609 RGD DNA:transversion, transitions:promoter, exon:multiple PMID:10868949|REF_RGD_ID:2313246 11822554 FOXA2 forkhead box A2 gene DOID:9970 obesity ISO RGD:10719 D RGD:9068941 20200609 RGD PMID:12865419|REF_RGD_ID:1627574 11822560 B3GNT8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1313364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11822560 B3GNT8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1313364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11822560 B3GNT8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 gene DOID:2340 craniosynostosis ISO RGD:1313364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11822560 B3GNT8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 gene DOID:630 genetic disease ISO RGD:1313364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822560 B3GNT8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1313364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11822560 B3GNT8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 gene DOID:9269 maple syrup urine disease ISO RGD:1313364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11822567 CARD14 caspase recruitment domain family member 14 gene DOID:0080475 psoriasis 2 ISO RGD:1350189 D RGD:7240710 20190227 OMIM 11822567 CARD14 caspase recruitment domain family member 14 gene DOID:0080475 psoriasis 2 ISO RGD:1350189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Psoriasis 2 PMID:15689454|PMID:17576681|PMID:18256691|PMID:22521418|PMID:22521419|PMID:23648549|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29477734|PMID:8178173|PMID:9536098 11822567 CARD14 caspase recruitment domain family member 14 gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1350189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA (Sanfilippo A) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:10601282|PMID:11343308|PMID:12490062|PMID:15146460|PMID:18407553|PMID:21061399|PMID:22976768|PMID:22976788|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:28492532|PMID:30809705|PMID:31536183|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9700599 11822567 CARD14 caspase recruitment domain family member 14 gene DOID:12798 mucopolysaccharidosis ISO RGD:1350189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidoses PMID:10601282|PMID:11343308|PMID:12490062|PMID:15146460|PMID:18407553|PMID:21061399|PMID:22976768|PMID:22976788|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:28492532|PMID:30809705|PMID:31536183|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9700599 11822567 CARD14 caspase recruitment domain family member 14 gene DOID:12801 mucopolysaccharidosis III ISO RGD:1350189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sanfilippo syndrome PMID:10601282|PMID:11343308|PMID:12490062|PMID:15146460|PMID:18407553|PMID:21061399|PMID:22976768|PMID:22976788|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:28492532|PMID:30809705|PMID:31536183|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9700599 11822567 CARD14 caspase recruitment domain family member 14 gene DOID:1289 neurodegenerative disease ISO RGD:1350189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder PMID:10601282|PMID:11343308|PMID:12490062|PMID:15146460|PMID:18407553|PMID:21061399|PMID:22976768|PMID:22976788|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:28492532|PMID:30809705|PMID:31536183|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9700599 11822567 CARD14 caspase recruitment domain family member 14 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1350189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:17576681|PMID:22521419|PMID:24033266|PMID:24999592|PMID:25734815|PMID:25741868|PMID:25989471|PMID:26203641|PMID:26358359|PMID:28492532|PMID:28887889|PMID:30387497|PMID:9536098 11822567 CARD14 caspase recruitment domain family member 14 gene DOID:630 genetic disease ISO RGD:1350189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10601282|PMID:11343308|PMID:12490062|PMID:15146460|PMID:18407553|PMID:21061399|PMID:22521419|PMID:22976768|PMID:22976788|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:28166811|PMID:28492532|PMID:30809705|PMID:31536183|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9700599 11822567 CARD14 caspase recruitment domain family member 14 gene DOID:8893 psoriasis ISO RGD:1350189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Psoriasis 2, pustular PMID:22521418|PMID:22521419 11822567 CARD14 caspase recruitment domain family member 14 gene DOID:9005678 Familial Pityriasis Rubra Pilaris ISO RGD:1350189 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial pityriasis rubra pilaris PMID:25741868 11822567 CARD14 caspase recruitment domain family member 14 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1350189 D RGD:7240710 20180130 OMIM 11822567 CARD14 caspase recruitment domain family member 14 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1350189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Papulosquamous eruptions | ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:16199547|PMID:17576681|PMID:22521418|PMID:22521419|PMID:22703878|PMID:23648549|PMID:24033266|PMID:24999592|PMID:25640679|PMID:25734815|PMID:25741868|PMID:25989471|PMID:26130407|PMID:26203641|PMID:26358359|PMID:27140437|PMID:28135719|PMID:28166811|PMID:28230860|PMID:28295164|PMID:28492532|PMID:28776328|PMID:28887889|PMID:29477734|PMID:29704870|PMID:30248356|PMID:30387497|PMID:30998217|PMID:31971270|PMID:32199921|PMID:8178173|PMID:9536098 11822592 PARP4 poly(ADP-ribose) polymerase family member 4 gene DOID:630 genetic disease ISO RGD:1606845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822592 PARP4 poly(ADP-ribose) polymerase family member 4 gene DOID:9002928 Colonic Neoplasms ISO RGD:1606845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16204055 11822592 PARP4 poly(ADP-ribose) polymerase family member 4 gene DOID:9002928 Colonic Neoplasms exacerbates ISO RGD:1553510 D RGD:9068941 20220602 RGD PMID:16204055|REF_RGD_ID:152977751 11822630 CD86 CD86 molecule gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:628714 D RGD:9068941 20200609 RGD PMID:10590132|REF_RGD_ID:6902938 11822630 CD86 CD86 molecule gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1604658 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 11822630 CD86 CD86 molecule gene DOID:10124 corneal disease ISO RGD:628714 D RGD:9068941 20200609 RGD protein:increased expression:corneal epithelium, Langerhans cell (rat) PMID:19907296|REF_RGD_ID:4892211 11822630 CD86 CD86 molecule gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1604658 D RGD:9068941 20200609 RGD DNA:hypermethylation (human) PMID:23154584|REF_RGD_ID:11354975 11822630 CD86 CD86 molecule gene DOID:11123 Henoch-Schoenlein purpura treatment ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:venous blood, B cell (human) PMID:27030970|REF_RGD_ID:11354986 11822630 CD86 CD86 molecule gene DOID:12053 cryptococcosis ISO RGD:734336 D RGD:9068941 20200609 RGD protein:increased expression:lung, dendritic cell (mouse) PMID:16790753|REF_RGD_ID:4892554 11822630 CD86 CD86 molecule gene DOID:12449 aplastic anemia ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:blood, dendritic cell (human) PMID:21234821|REF_RGD_ID:11354968 11822630 CD86 CD86 molecule gene DOID:12842 Guillain-Barre syndrome ISO RGD:734336 D RGD:9068941 20220825 MouseDO OMIM:139393 11822630 CD86 CD86 molecule gene DOID:2123 tularemia ISO RGD:734336 D RGD:9068941 20200609 RGD protein:increased expression:lung, dendritic cell (mouse) PMID:16272336|REF_RGD_ID:4892560 11822630 CD86 CD86 molecule gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1604658 D RGD:9068941 20200609 RGD DNA:snps, haplotypes:exons: G>A, G>C (rs1129055, rs17281995) (human) PMID:26531698|REF_RGD_ID:11354964 11822630 CD86 CD86 molecule gene DOID:2518 orchitis ISO RGD:628714 D RGD:9068941 20200609 RGD protein:increased expression:testis, macrophage (rat) PMID:18381617|REF_RGD_ID:4892229 11822630 CD86 CD86 molecule gene DOID:2773 contact dermatitis ISO RGD:1604658 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11822630 CD86 CD86 molecule gene DOID:2799 bronchiolitis obliterans ISO RGD:628714 D RGD:9068941 20200609 RGD PMID:11266944|REF_RGD_ID:2307206 11822630 CD86 CD86 molecule gene DOID:2841 asthma ISO RGD:1604658 D RGD:9068941 20200609 RGD DNA:snp:exon:p.I179V rs2681417 (human) PMID:17513529|REF_RGD_ID:4892280 11822630 CD86 CD86 molecule gene DOID:2841 asthma ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:blood, B cell (human) PMID:9449507|REF_RGD_ID:4892555 11822630 CD86 CD86 molecule gene DOID:2841 asthma ISO RGD:628714 D RGD:9068941 20200609 RGD protein:increased expression:lung, dendritic cell (rat) PMID:20668438|REF_RGD_ID:4892199 11822630 CD86 CD86 molecule gene DOID:2841 asthma ISO RGD:734336 D RGD:9068941 20200609 RGD PMID:9551945|REF_RGD_ID:4892202 11822630 CD86 CD86 molecule gene DOID:2841 asthma ISO RGD:734336 D RGD:9068941 20200609 RGD protein:increased expression:lung, alveolar macrophage (mouse) PMID:20941750|REF_RGD_ID:4892277 11822630 CD86 CD86 molecule gene DOID:2841 asthma treatment ISO RGD:734336 D RGD:9068941 20200609 RGD PMID:25344652|REF_RGD_ID:11354965 11822630 CD86 CD86 molecule gene DOID:2917 cryoglobulinemia ISO RGD:1604658 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;protein:increased expression:peripheral blood, B cell (human) PMID:23840845|REF_RGD_ID:11354974 11822630 CD86 CD86 molecule gene DOID:2942 bronchiolitis ISO RGD:734336 D RGD:9068941 20200609 RGD protein:decreased expression:myeloid dendritic cell (mouse) PMID:20046053|REF_RGD_ID:4892291 11822630 CD86 CD86 molecule gene DOID:2957 pulmonary tuberculosis ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:decreased expression:sputum, macrophage (human) PMID:17713660|REF_RGD_ID:4892339 11822630 CD86 CD86 molecule gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:lung, myeloid dendritic cell (human) PMID:19729666|REF_RGD_ID:4892292 11822630 CD86 CD86 molecule gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1604658 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:g.1057G>A rs1129055 (human) PMID:20732370|REF_RGD_ID:4891504 11822630 CD86 CD86 molecule gene DOID:3525 middle cerebral artery infarction ISO RGD:628714 D RGD:9068941 20200609 RGD protein:increased expression:brain subventricular zone, microglial cell (rat) PMID:19053043|REF_RGD_ID:2313025 11822630 CD86 CD86 molecule gene DOID:3770 pulmonary fibrosis ISO RGD:734336 D RGD:9068941 20200609 RGD protein:increased expression:lung, dendritic cell (mouse) PMID:20395561|REF_RGD_ID:4892281 11822630 CD86 CD86 molecule gene DOID:399 tuberculosis ISO RGD:734336 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:18292558|REF_RGD_ID:4892329 11822630 CD86 CD86 molecule gene DOID:409 liver disease ISO RGD:1604658 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11822630 CD86 CD86 molecule gene DOID:418 systemic scleroderma ISO RGD:1604658 D RGD:9068941 20200609 RGD DNA:snp:5' utr:g.-3479T>G (human) PMID:16790753|REF_RGD_ID:4892554 11822630 CD86 CD86 molecule gene DOID:630 genetic disease ISO RGD:1604658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822630 CD86 CD86 molecule gene DOID:6432 pulmonary hypertension ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:decreased expression:blood, myeloid dendritic cell (human) PMID:19693657|REF_RGD_ID:4892293 11822630 CD86 CD86 molecule gene DOID:841 extrinsic allergic alveolitis ISO RGD:734336 D RGD:9068941 20200609 RGD associated with Paramyxoviridae Infections; protein:increased expression:lung (mouse) PMID:19282343|REF_RGD_ID:4892294 11822630 CD86 CD86 molecule gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood mononuclear cell (human) PMID:19379594|REF_RGD_ID:11354966 11822630 CD86 CD86 molecule gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:1604658 D RGD:9068941 20200609 RGD PMID:20581660|REF_RGD_ID:11520785 11822630 CD86 CD86 molecule gene DOID:9000469 Viral Myocarditis treatment ISO RGD:734336 D RGD:9068941 20200609 RGD PMID:10398149|REF_RGD_ID:13702899 11822630 CD86 CD86 molecule gene DOID:9000930 Dental Pulp Exposure ISO RGD:628714 D RGD:9068941 20200609 RGD mRNA:increased expression:periodontal ligament (rat) PMID:20113783|REF_RGD_ID:4892210 11822630 CD86 CD86 molecule gene DOID:9000930 Dental Pulp Exposure ISO RGD:628714 D RGD:9068941 20200609 RGD mRNA:increased expression:thalamus (rat) PMID:20171363|REF_RGD_ID:4892246 11822630 CD86 CD86 molecule gene DOID:9000965 Neoplasm Metastasis ISO RGD:628714 D RGD:9068941 20200609 RGD mRNA:decreased expression:mediastinal lymph node (rat) PMID:18360875|REF_RGD_ID:4892237 11822630 CD86 CD86 molecule gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:734336 D RGD:9068941 20200609 RGD protein:decreased expression:spleen, plasmacytoid dendritic cell (mouse) PMID:20949109|REF_RGD_ID:4892562 11822630 CD86 CD86 molecule gene DOID:9001488 Human Influenza ISO RGD:734336 D RGD:9068941 20200609 RGD protein:increased expression:mediastinal lymph node, B cell (mouse) PMID:19933871|REF_RGD_ID:4892570 11822630 CD86 CD86 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604658 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11822630 CD86 CD86 molecule gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood mononuclear cell (human) PMID:25179679|REF_RGD_ID:11354969 11822630 CD86 CD86 molecule gene DOID:9002283 Experimental Allergic Asthma treatment ISO RGD:734336 D RGD:9068941 20200609 RGD PMID:25344652|REF_RGD_ID:11354965 11822630 CD86 CD86 molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis disease_progression ISO RGD:628714 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord, blood vessel (rat) PMID:20451260|REF_RGD_ID:4892207 11822630 CD86 CD86 molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis resistance ISO RGD:734336 D RGD:9068941 20200609 RGD PMID:10477557|REF_RGD_ID:4892227 11822630 CD86 CD86 molecule gene DOID:9002869 Schistosomiasis Mansoni ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood, eosinophil (human) PMID:17308795|REF_RGD_ID:11354987 11822630 CD86 CD86 molecule gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa, dendritic cell (human) PMID:17088138|REF_RGD_ID:4892343 11822630 CD86 CD86 molecule gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734336 D RGD:9068941 20200609 RGD PMID:8993020|REF_RGD_ID:2313930 11822630 CD86 CD86 molecule gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1604658 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 11822630 CD86 CD86 molecule gene DOID:9006844 Streptococcal Infections ISO RGD:734336 D RGD:9068941 20200609 RGD associated with Encephalomyelitis, Experimental Autoimmune; protein:increased expression:spleen, dendritic cell (mouse) PMID:16861672|REF_RGD_ID:4892553 11822630 CD86 CD86 molecule gene DOID:9007730 Burns ISO RGD:628714 D RGD:9068941 20200609 RGD protein:increased expression:spleen, dendritic cell (rat) PMID:20233162|REF_RGD_ID:4892209 11822630 CD86 CD86 molecule gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1604658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 11822630 CD86 CD86 molecule gene DOID:9119 acute myeloid leukemia ISO RGD:734336 D RGD:9068941 20200609 RGD PMID:19197726|REF_RGD_ID:4892295 11822630 CD86 CD86 molecule gene DOID:9119 acute myeloid leukemia severity ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:mononuclear cell of bone marrow (human) PMID:16115907|REF_RGD_ID:11354960 11822630 CD86 CD86 molecule gene DOID:9270 alkaptonuria ISO RGD:1604658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11822630 CD86 CD86 molecule gene DOID:9538 multiple myeloma ISO RGD:1604658 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16611307 11822630 CD86 CD86 molecule gene DOID:9538 multiple myeloma severity ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow, plasma cell (human) PMID:22705596|REF_RGD_ID:11354971 11822630 CD86 CD86 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:1604658 D RGD:9068941 20200609 RGD human gene in mouse model PMID:17947667|REF_RGD_ID:4892258 11822630 CD86 CD86 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:decreased expression:dendritic cell PMID:16232222|REF_RGD_ID:2313911 11822630 CD86 CD86 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:dendritic cell PMID:12742378|REF_RGD_ID:2313920 11822630 CD86 CD86 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:734336 D RGD:9068941 20200609 RGD PMID:15356107|REF_RGD_ID:2313917 11822630 CD86 CD86 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:734336 D RGD:9068941 20200609 RGD protein:decreased expression:macrophage,dendritic cell,T cell PMID:10679081|REF_RGD_ID:2313927 11822630 CD86 CD86 molecule gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:734336 D RGD:9068941 20200609 RGD protein:decreased expression:dendritic cells PMID:18316361|REF_RGD_ID:2313906 11822630 CD86 CD86 molecule gene DOID:9952 acute lymphoblastic leukemia severity ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood, bone marrow, mononuclear cell (human) PMID:24283754|REF_RGD_ID:11354967 11822645 PABIR1 PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1 gene DOID:630 genetic disease ISO RGD:1321149 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822651 MRPL36 mitochondrial ribosomal protein L36 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1314956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:28492532 11822651 MRPL36 mitochondrial ribosomal protein L36 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1314956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 11822651 MRPL36 mitochondrial ribosomal protein L36 gene DOID:0112073 nuclear type mitochondrial complex I deficiency 9 ISO RGD:1314956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 PMID:25741868|PMID:28492532 11822651 MRPL36 mitochondrial ribosomal protein L36 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1314956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 11822651 MRPL36 mitochondrial ribosomal protein L36 gene DOID:1059 intellectual disability ISO RGD:1314956 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11822651 MRPL36 mitochondrial ribosomal protein L36 gene DOID:1059 intellectual disability ISO RGD:1314956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 11822651 MRPL36 mitochondrial ribosomal protein L36 gene DOID:630 genetic disease ISO RGD:1314956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11822651 MRPL36 mitochondrial ribosomal protein L36 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1314956 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 11822666 NFKBID NFKB inhibitor delta gene DOID:0081154 common variable immunodeficiency 12 ISO RGD:1603004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 11822666 NFKBID NFKB inhibitor delta gene DOID:0110222 Brugada syndrome 5 ISO RGD:1603004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11822666 NFKBID NFKB inhibitor delta gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1603004 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11822666 NFKBID NFKB inhibitor delta gene DOID:630 genetic disease ISO RGD:1603004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822688 B3GALT1 beta-1,3-galactosyltransferase 1 gene DOID:10283 prostate cancer ISO RGD:1323596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11822688 B3GALT1 beta-1,3-galactosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1323596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822703 ETV1 ETS variant transcription factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11822703 ETV1 ETS variant transcription factor 1 gene DOID:630 genetic disease ISO RGD:1323762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822703 ETV1 ETS variant transcription factor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1323762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17173048|PMID:17671502|PMID:27783944 11822703 ETV1 ETS variant transcription factor 1 gene DOID:9008192 Neoplastic Processes ISO RGD:1323762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27783944 11822703 ETV1 ETS variant transcription factor 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1323762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30224643 11822730 ZKSCAN4 zinc finger with KRAB and SCAN domains 4 gene DOID:11372 megacolon ISO RGD:1319105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11822730 ZKSCAN4 zinc finger with KRAB and SCAN domains 4 gene DOID:5419 schizophrenia ISO RGD:1319105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22037552 11822730 ZKSCAN4 zinc finger with KRAB and SCAN domains 4 gene DOID:630 genetic disease ISO RGD:1319105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822753 ANGPTL1 angiopoietin like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1347249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11822753 ANGPTL1 angiopoietin like 1 gene DOID:630 genetic disease ISO RGD:1347249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822753 ANGPTL1 angiopoietin like 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1347249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11822753 ANGPTL1 angiopoietin like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11822768 RNF2 ring finger protein 2 gene DOID:0080016 spina bifida ISO RGD:1305491 D RGD:9068941 20200609 RGD PMID:20515739|REF_RGD_ID:9491842 11822768 RNF2 ring finger protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1313548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11822768 RNF2 ring finger protein 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1313548 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19585519|REF_RGD_ID:9491843 11822768 RNF2 ring finger protein 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1313549 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19585519|REF_RGD_ID:9491843 11822768 RNF2 ring finger protein 2 gene DOID:630 genetic disease ISO RGD:1313548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822768 RNF2 ring finger protein 2 gene DOID:9000444 LUO-SCHOCH-YAMAMOTO SYNDROME ISO RGD:1313548 D RGD:7240710 20211027 OMIM 11822768 RNF2 ring finger protein 2 gene DOID:9000444 LUO-SCHOCH-YAMAMOTO SYNDROME ISO RGD:1313548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Luo-Schoch-Yamamoto syndrome | ClinVar Annotator: match by term: RNF2-associated neurodevelopmental condition PMID:25741868|PMID:33864376 11822768 RNF2 ring finger protein 2 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:1305491 D RGD:9068941 20200609 RGD PMID:20740046|REF_RGD_ID:9491844 11822768 RNF2 ring finger protein 2 gene DOID:9006190 Chronic Pancreatitis ISO RGD:1313548 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19585519|REF_RGD_ID:9491843 11822768 RNF2 ring finger protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11822783 THBS2 thrombospondin 2 gene DOID:11713 diabetic angiopathy ISO RGD:1322186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 11822783 THBS2 thrombospondin 2 gene DOID:630 genetic disease ISO RGD:1322186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822783 THBS2 thrombospondin 2 gene DOID:9000585 Intervertebral Disc Disease ISO RGD:1322186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lumbar disc herniation, susceptibility to PMID:18455130 11822783 THBS2 thrombospondin 2 gene DOID:9000585 Intervertebral Disc Disease susceptibility ISO RGD:1322186 D RGD:7240710 20230505 OMIM 11822783 THBS2 thrombospondin 2 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1310979 D RGD:9068941 20200609 RGD PMID:20136391|REF_RGD_ID:2317938 11822783 THBS2 thrombospondin 2 gene DOID:9351 diabetes mellitus ISO RGD:1322186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23723366 11822820 NT5DC1 5'-nucleotidase domain containing 1 gene DOID:0060163 body dysmorphic disorder ISO RGD:1313107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 11822820 NT5DC1 5'-nucleotidase domain containing 1 gene DOID:0080021 Schmid metaphyseal chondrodysplasia ISO RGD:1313107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE PMID:10721676|PMID:10991694|PMID:11805116|PMID:12554676|PMID:12584438|PMID:15695517|PMID:15880705|PMID:16088909|PMID:17403716|PMID:20872587|PMID:25741868|PMID:28492532|PMID:29234170|PMID:30202406|PMID:30408610|PMID:34423584|PMID:7607655|PMID:7749409|PMID:7936797|PMID:8004099|PMID:8012364|PMID:8220429|PMID:8304336|PMID:8554571|PMID:8782043|PMID:8986632|PMID:9067753|PMID:9525992|PMID:9708440|PMID:9837818|PMID:9852679|PMID:9920912 11822820 NT5DC1 5'-nucleotidase domain containing 1 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1313107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 11822820 NT5DC1 5'-nucleotidase domain containing 1 gene DOID:1909 melanoma ISO RGD:1313107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11822820 NT5DC1 5'-nucleotidase domain containing 1 gene DOID:630 genetic disease ISO RGD:1313107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11822820 NT5DC1 5'-nucleotidase domain containing 1 gene DOID:9000073 Metaphyseal Chondrodysplasia ISO RGD:1313107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia PMID:25741868|PMID:28492532 11822836 SLC22A2 solute carrier family 22 member 2 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1342518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 11822836 SLC22A2 solute carrier family 22 member 2 gene DOID:1074 kidney failure ISO RGD:61936 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney cortex PMID:21167265|REF_RGD_ID:7243878 11822836 SLC22A2 solute carrier family 22 member 2 gene DOID:13619 extrahepatic cholestasis ISO RGD:61936 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:20814153|REF_RGD_ID:7243879 11822836 SLC22A2 solute carrier family 22 member 2 gene DOID:1852 intrahepatic cholestasis ISO RGD:61936 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:19002567|REF_RGD_ID:7243885 11822836 SLC22A2 solute carrier family 22 member 2 gene DOID:1920 hyperuricemia ISO RGD:61936 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:15748710|REF_RGD_ID:7243882 11822836 SLC22A2 solute carrier family 22 member 2 gene DOID:1920 hyperuricemia treatment ISO RGD:62229 D RGD:9068941 20200609 RGD PMID:21154198|PMID:21909718|REF_RGD_ID:7243180|REF_RGD_ID:7244192 11822836 SLC22A2 solute carrier family 22 member 2 gene DOID:3021 acute kidney failure ISO RGD:61936 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:18612803|REF_RGD_ID:7243880 11822836 SLC22A2 solute carrier family 22 member 2 gene DOID:3021 acute kidney failure susceptibility ISO RGD:1342518 D RGD:9068941 20200609 RGD DNA:SNP: :808G>T (rs316019) human PMID:19625999|REF_RGD_ID:7243884 11822836 SLC22A2 solute carrier family 22 member 2 gene DOID:3021 acute kidney failure treatment ISO RGD:61936 D RGD:9068941 20200609 RGD PMID:22414646|REF_RGD_ID:7243179 11822836 SLC22A2 solute carrier family 22 member 2 gene DOID:557 kidney disease ISO RGD:1342518 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22525860 11822836 SLC22A2 solute carrier family 22 member 2 gene DOID:630 genetic disease ISO RGD:1342518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822836 SLC22A2 solute carrier family 22 member 2 gene DOID:783 end stage renal disease ISO RGD:61936 D RGD:9068941 20200609 RGD PMID:23280877|REF_RGD_ID:7243177 11822836 SLC22A2 solute carrier family 22 member 2 gene DOID:783 end stage renal disease ISO RGD:61936 D RGD:9068941 20200609 RGD protein:decreased expression:kidney, plasma membrane PMID:12110012|REF_RGD_ID:7243883 11822836 SLC22A2 solute carrier family 22 member 2 gene DOID:9000046 Poisoning ISO RGD:1342518 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22525860 11822836 SLC22A2 solute carrier family 22 member 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:62229 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:23228442|REF_RGD_ID:7243178 11822836 SLC22A2 solute carrier family 22 member 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61936 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:19356064|REF_RGD_ID:2312728 11822836 SLC22A2 solute carrier family 22 member 2 gene DOID:9005930 Endotoxemia treatment ISO RGD:61936 D RGD:9068941 20200609 RGD PMID:18313662|REF_RGD_ID:7243881 11822836 SLC22A2 solute carrier family 22 member 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:61936 D RGD:9068941 20200609 RGD PMID:21835768|REF_RGD_ID:7243877 11822836 SLC22A2 solute carrier family 22 member 2 gene DOID:9970 obesity ISO RGD:1342518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27401566 11822854 STPG2 sperm tail PG-rich repeat containing 2 gene DOID:630 genetic disease ISO RGD:1602169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822870 TMEM182 transmembrane protein 182 gene DOID:0080600 COVID-19 ISO RGD:1604752 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11822870 TMEM182 transmembrane protein 182 gene DOID:630 genetic disease ISO RGD:1604752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822892 UPP2 uridine phosphorylase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1317821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21151189 11822892 UPP2 uridine phosphorylase 2 gene DOID:630 genetic disease ISO RGD:1317821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822913 TMEM91 transmembrane protein 91 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11822913 TMEM91 transmembrane protein 91 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1602234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11822913 TMEM91 transmembrane protein 91 gene DOID:2340 craniosynostosis ISO RGD:1602234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11822913 TMEM91 transmembrane protein 91 gene DOID:630 genetic disease ISO RGD:1602234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11822913 TMEM91 transmembrane protein 91 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1602234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11822913 TMEM91 transmembrane protein 91 gene DOID:9269 maple syrup urine disease ISO RGD:1602234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11822970 AP2B1 adaptor related protein complex 2 subunit beta 1 gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:734047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 11822970 AP2B1 adaptor related protein complex 2 subunit beta 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:71048 D RGD:9068941 20200609 RGD protein:increased degradation:brain PMID:19240038|REF_RGD_ID:13461853 11822970 AP2B1 adaptor related protein complex 2 subunit beta 1 gene DOID:630 genetic disease ISO RGD:734047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11823012 CDIN1 CDAN1 interacting nuclease 1 gene DOID:0111397 congenital dyserythropoietic anemia type Ib ISO RGD:1607000 D RGD:7240710 20191009 OMIM 11823012 CDIN1 CDAN1 interacting nuclease 1 gene DOID:0111397 congenital dyserythropoietic anemia type Ib ISO RGD:1607000 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib | ClinVar Annotator: match by term: CDA, TYPE Ib PMID:16643456|PMID:23716552|PMID:25741868|PMID:28492532|PMID:29885034|PMID:31191338|PMID:9220189 11823012 CDIN1 CDAN1 interacting nuclease 1 gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:1607000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11823012 CDIN1 CDAN1 interacting nuclease 1 gene DOID:2717 Bloom syndrome ISO RGD:1607000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11823012 CDIN1 CDAN1 interacting nuclease 1 gene DOID:9256 colorectal cancer ISO RGD:1607000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11823036 DUT deoxyuridine triphosphatase gene DOID:14323 Marfan syndrome ISO RGD:1349758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:21063442|PMID:25741868|PMID:26787436|PMID:28492532 11823036 DUT deoxyuridine triphosphatase gene DOID:2717 Bloom syndrome ISO RGD:1349758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11823036 DUT deoxyuridine triphosphatase gene DOID:630 genetic disease ISO RGD:1349758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11823036 DUT deoxyuridine triphosphatase gene DOID:9002189 High Myopia ISO RGD:1349758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11823036 DUT deoxyuridine triphosphatase gene DOID:9007502 Brain Neoplasms severity ISO RGD:1349758 D RGD:9068941 20200609 RGD protein:increased expression:tumor (human) PMID:16325515|REF_RGD_ID:5133680 11823036 DUT deoxyuridine triphosphatase gene DOID:9009085 Bone Marrow Failure and Diabetes Mellitus Syndrome ISO RGD:1349758 D RGD:7240710 20221116 OMIM 11823036 DUT deoxyuridine triphosphatase gene DOID:9009085 Bone Marrow Failure and Diabetes Mellitus Syndrome ISO RGD:1349758 D RGD:8554872 20221115 ClinVar ClinVar Annotator: match by term: Bone marrow failure and diabetes mellitus syndrome PMID:28073829|PMID:35611808|PMID:35931051|PMID:9548420 11823036 DUT deoxyuridine triphosphatase gene DOID:9256 colorectal cancer ISO RGD:1349758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11823074 NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 gene DOID:1826 epilepsy ISO RGD:1350688 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11823074 NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 gene DOID:3534 Lafora disease ISO RGD:1350688 D RGD:7240710 20180130 OMIM 11823074 NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 gene DOID:3534 Lafora disease ISO RGD:1350688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lafora disease PMID:12958597|PMID:12960212|PMID:15781812|PMID:15930137|PMID:16021330|PMID:16134145|PMID:16190947|PMID:16311711|PMID:16529633|PMID:16950819|PMID:17389303|PMID:17952067|PMID:18029386|PMID:18256682|PMID:18263761|PMID:18311786|PMID:18414213|PMID:19267391|PMID:19322595|PMID:19744044|PMID:20301563|PMID:20738377|PMID:21505799|PMID:22047982|PMID:22815132|PMID:23317923|PMID:23806086|PMID:24452334|PMID:25270369|PMID:25401298|PMID:25667860|PMID:25683376|PMID:25741868|PMID:26467025|PMID:27194917|PMID:28492532|PMID:28556688|PMID:29431110|PMID:29588937|PMID:29655203|PMID:30701169|PMID:31227012|PMID:31758957|PMID:31858178 11823074 NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1350688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12958597|PMID:15781812|PMID:16021330|PMID:16134145|PMID:16190947|PMID:16311711|PMID:16529633|PMID:17952067|PMID:18263761|PMID:18311786|PMID:18414213|PMID:19267391|PMID:20301563|PMID:20738377|PMID:21505799|PMID:22047982|PMID:23806086|PMID:24452334|PMID:25270369|PMID:25401298|PMID:25667860|PMID:25683376|PMID:25741868|PMID:26467025|PMID:27194917|PMID:28492532|PMID:28556688|PMID:31227012 11823074 NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1350688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 11823074 NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 gene DOID:9002113 Progressive Myoclonic Epilepsy 2B ISO RGD:1350688 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 2b PMID:12958597|PMID:12960212|PMID:15781812|PMID:15930137|PMID:16134145|PMID:16311711|PMID:16529633|PMID:16950819|PMID:18029386|PMID:18256682|PMID:18263761|PMID:18311786|PMID:19744044|PMID:20301563|PMID:20738377|PMID:21505799|PMID:22815132|PMID:25270369|PMID:25683376|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28556688|PMID:29431110|PMID:31227012|PMID:31758957|PMID:31858178 11823092 CDH2 cadherin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:731820 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:c.686A>C(p.Q229P), c.1219G>A (p.D407N)(human) PMID:28280076|REF_RGD_ID:13524622 11823092 CDH2 cadherin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:731820 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.1219G>A(p.D407N)(human) PMID:28326674|REF_RGD_ID:13524623 11823092 CDH2 cadherin 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:731821 D RGD:9068941 20200609 RGD PMID:7502046|REF_RGD_ID:734737 11823092 CDH2 cadherin 2 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:731820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 11823092 CDH2 cadherin 2 gene DOID:0080948 agenesis of corpus callosum, cardiac, ocular, and genital syndrome ISO RGD:731820 D RGD:7240710 20200910 OMIM 11823092 CDH2 cadherin 2 gene DOID:0080948 agenesis of corpus callosum, cardiac, ocular, and genital syndrome ISO RGD:731820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of corpus callosum, cardiac, ocular, and genital syndrome PMID:18798333|PMID:25741868|PMID:31585109|PMID:31650526 11823092 CDH2 cadherin 2 gene DOID:0080959 arrhythmogenic right ventricular dysplasia 14 ISO RGD:731820 D RGD:7240710 20200701 OMIM 11823092 CDH2 cadherin 2 gene DOID:0080959 arrhythmogenic right ventricular dysplasia 14 ISO RGD:731820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 14 PMID:25741868|PMID:28280076|PMID:28326674|PMID:28492532 11823092 CDH2 cadherin 2 gene DOID:1059 intellectual disability ISO RGD:731820 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11823092 CDH2 cadherin 2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:731821 D RGD:9068941 20230302 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 11823092 CDH2 cadherin 2 gene DOID:1824 status epilepticus ISO RGD:731820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12125071 11823092 CDH2 cadherin 2 gene DOID:630 genetic disease ISO RGD:731820 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11823092 CDH2 cadherin 2 gene DOID:630 genetic disease ISO RGD:731820 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30847666|PMID:31585109 11823092 CDH2 cadherin 2 gene DOID:9000019 Attention Deficit-Hyperactivity Disorder 8 ISO RGD:731820 D RGD:7240710 20220720 OMIM 11823092 CDH2 cadherin 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:731820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11823092 CDH2 cadherin 2 gene DOID:9000918 Disease Progression ISO RGD:731820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23876460 11823092 CDH2 cadherin 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23876460 11823092 CDH2 cadherin 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:731820 D RGD:9068941 20200924 RGD mRNA:increased expression:lung PMID:25593290|REF_RGD_ID:38500244 11823092 CDH2 cadherin 2 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:731820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum agenesis | ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:25741868|PMID:31585109 11823092 CDH2 cadherin 2 gene DOID:9002245 Intestinal Neoplasms ISO RGD:731821 D RGD:9068941 20200609 RGD PMID:7502046|REF_RGD_ID:734737 11823092 CDH2 cadherin 2 gene DOID:9002955 Nerve Degeneration ISO RGD:731820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12387456 11823092 CDH2 cadherin 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 11823092 CDH2 cadherin 2 gene DOID:9006205 Animal Disease Models ISO RGD:731820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 11823092 CDH2 cadherin 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:731820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11823092 CDH2 cadherin 2 gene DOID:9008939 Breast Neoplasms ISO RGD:731820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 11823110 PLPPR4 phospholipid phosphatase related 4 gene DOID:630 genetic disease ISO RGD:1605099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11823126 C2AH2orf16 chromosome 2A C2orf16 homolog gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1352942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11823126 C2AH2orf16 chromosome 2A C2orf16 homolog gene DOID:630 genetic disease ISO RGD:1352942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11823131 PVR PVR cell adhesion molecule gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:736513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 11823131 PVR PVR cell adhesion molecule gene DOID:0080395 orofacial cleft 1 ISO RGD:736513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21637507 11823131 PVR PVR cell adhesion molecule gene DOID:4953 poliomyelitis ISO RGD:736513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28446605|PMID:3020560 11823131 PVR PVR cell adhesion molecule gene DOID:630 genetic disease ISO RGD:736513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11823131 PVR PVR cell adhesion molecule gene DOID:9002304 Prostatic Neoplasms ISO RGD:736513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30614027 11823131 PVR PVR cell adhesion molecule gene DOID:9119 acute myeloid leukemia ISO RGD:736513 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29855615 11823145 TMCO6 transmembrane and coiled-coil domains 6 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1605060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11823145 TMCO6 transmembrane and coiled-coil domains 6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605060 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11823145 TMCO6 transmembrane and coiled-coil domains 6 gene DOID:0081007 RNASET2-deficient cystic leukoencephalopathy ISO RGD:1605060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystic Leukoencephalopathy PMID:25741868|PMID:27159321|PMID:28857146 11823145 TMCO6 transmembrane and coiled-coil domains 6 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1605060 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 11823145 TMCO6 transmembrane and coiled-coil domains 6 gene DOID:0112076 nuclear type mitochondrial complex I deficiency 13 ISO RGD:1605060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13 PMID:18513682|PMID:25741868|PMID:27159321|PMID:28857146|PMID:32154054 11823145 TMCO6 transmembrane and coiled-coil domains 6 gene DOID:3652 Leigh disease ISO RGD:1605060 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:28492532 11823145 TMCO6 transmembrane and coiled-coil domains 6 gene DOID:630 genetic disease ISO RGD:1605060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11823145 TMCO6 transmembrane and coiled-coil domains 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11823145 TMCO6 transmembrane and coiled-coil domains 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605060 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11823171 LAMA5 laminin subunit alpha 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1354079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11823171 LAMA5 laminin subunit alpha 5 gene DOID:0060327 omphalocele ISO RGD:1354079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Omphalocoele PMID:25741868|PMID:32439764 11823171 LAMA5 laminin subunit alpha 5 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1354079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11823171 LAMA5 laminin subunit alpha 5 gene DOID:0080918 polymicrogyria ISO RGD:1354079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:28492532|PMID:29706646 11823171 LAMA5 laminin subunit alpha 5 gene DOID:0111365 benign familial hematuria ISO RGD:1354079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hematuria PMID:28492532|PMID:29764427 11823171 LAMA5 laminin subunit alpha 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1354079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11823171 LAMA5 laminin subunit alpha 5 gene DOID:10283 prostate cancer ISO RGD:1354079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11823171 LAMA5 laminin subunit alpha 5 gene DOID:1184 nephrotic syndrome ISO RGD:1354079 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:23999528|PMID:25741868|PMID:26553438|PMID:28492532|PMID:29534211|PMID:31321674 11823171 LAMA5 laminin subunit alpha 5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1354079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 11823171 LAMA5 laminin subunit alpha 5 gene DOID:2975 cystic kidney disease ISO RGD:1551147 D RGD:9068941 20220825 MouseDO 11823171 LAMA5 laminin subunit alpha 5 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1354079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Presynaptic congenital myasthenic syndromes PMID:25741868|PMID:28544784 11823171 LAMA5 laminin subunit alpha 5 gene DOID:4621 holoprosencephaly ISO RGD:1354079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:25741868|PMID:28492532|PMID:28735299|PMID:29534211|PMID:31680349 11823171 LAMA5 laminin subunit alpha 5 gene DOID:630 genetic disease ISO RGD:1354079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23265383|PMID:25741868|PMID:28492532 11823171 LAMA5 laminin subunit alpha 5 gene DOID:9000363 Hematuria ISO RGD:1354079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macroscopic hematuria PMID:25741868 11823171 LAMA5 laminin subunit alpha 5 gene DOID:9001258 Bent Bone Dysplasia Syndrome 1 ISO RGD:1354079 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: distinct bent bone dysplasia PMID:28492532|PMID:33242826 11823171 LAMA5 laminin subunit alpha 5 gene DOID:9002189 High Myopia ISO RGD:1354079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:28492532 11823171 LAMA5 laminin subunit alpha 5 gene DOID:9005870 Nephrotic Syndrome Type 26 ISO RGD:1354079 D RGD:7240710 20221012 OMIM 11823171 LAMA5 laminin subunit alpha 5 gene DOID:9005870 Nephrotic Syndrome Type 26 ISO RGD:1354079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 26 PMID:25741868|PMID:28492532|PMID:29534211|PMID:32439764|PMID:35419533 11823171 LAMA5 laminin subunit alpha 5 gene DOID:9006726 Bent Bone Dysplasia Syndrome 2 ISO RGD:1354079 D RGD:7240710 20221102 OMIM 11823171 LAMA5 laminin subunit alpha 5 gene DOID:9006726 Bent Bone Dysplasia Syndrome 2 ISO RGD:1354079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bent bone dysplasia syndrome 2 PMID:28492532|PMID:33242826 11823171 LAMA5 laminin subunit alpha 5 gene DOID:9007661 Dwarfism ISO RGD:1354079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:28492532 11823171 LAMA5 laminin subunit alpha 5 gene DOID:9008582 Developmental Disease ISO RGD:1354079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11823256 DIO2 iodothyronine deiodinase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:735779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24781735 11823256 DIO2 iodothyronine deiodinase 2 gene DOID:10763 hypertension susceptibility ISO RGD:735779 D RGD:9068941 20200609 RGD protein:substitution:Thr92Ala PMID:17224473|REF_RGD_ID:1626437 11823256 DIO2 iodothyronine deiodinase 2 gene DOID:289 endometriosis ISO RGD:735779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 11823256 DIO2 iodothyronine deiodinase 2 gene DOID:50 thyroid gland disease ISO RGD:735779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 11823256 DIO2 iodothyronine deiodinase 2 gene DOID:630 genetic disease ISO RGD:735779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11823256 DIO2 iodothyronine deiodinase 2 gene DOID:9003566 Mesothelioma ISO RGD:735779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11425850 11823256 DIO2 iodothyronine deiodinase 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:735779 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.T92A (human) PMID:18198294|REF_RGD_ID:2313696 11823256 DIO2 iodothyronine deiodinase 2 gene DOID:9007692 Insulin Resistance ISO RGD:735779 D RGD:9068941 20200609 RGD DNA:SNP: :rs225014, p.T92A (human) PMID:11872697|REF_RGD_ID:2313698 11823256 DIO2 iodothyronine deiodinase 2 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:735779 D RGD:9068941 20200609 RGD DNA:SNP: :rs225014, p.T92A (human) PMID:17077128|REF_RGD_ID:1626439 11823256 DIO2 iodothyronine deiodinase 2 gene DOID:9970 obesity no_association ISO RGD:735779 D RGD:9068941 20200609 RGD protein:substitution:Thr92Ala PMID:17077128|REF_RGD_ID:1626439 11823267 CNGA2 cyclic nucleotide gated channel subunit alpha 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11823267 CNGA2 cyclic nucleotide gated channel subunit alpha 2 gene DOID:12849 autistic disorder ISO RGD:736824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11823267 CNGA2 cyclic nucleotide gated channel subunit alpha 2 gene DOID:630 genetic disease ISO RGD:736824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11823278 ATOH8 atonal bHLH transcription factor 8 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1350083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 11823278 ATOH8 atonal bHLH transcription factor 8 gene DOID:630 genetic disease ISO RGD:1350083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11823278 ATOH8 atonal bHLH transcription factor 8 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1350083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11823300 IL17REL interleukin 17 receptor E like gene DOID:0060041 autism spectrum disorder ISO RGD:1605488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 11823300 IL17REL interleukin 17 receptor E like gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1605488 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 11823300 IL17REL interleukin 17 receptor E like gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1605488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11823300 IL17REL interleukin 17 receptor E like gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1605488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 11823300 IL17REL interleukin 17 receptor E like gene DOID:10581 metachromatic leukodystrophy ISO RGD:1605488 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 11823300 IL17REL interleukin 17 receptor E like gene DOID:1059 intellectual disability ISO RGD:1605488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11823300 IL17REL interleukin 17 receptor E like gene DOID:630 genetic disease ISO RGD:1605488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11823300 IL17REL interleukin 17 receptor E like gene DOID:8577 ulcerative colitis ISO RGD:1605488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228798 11823326 CDC37L1 cell division cycle 37 like 1, HSP90 cochaperone gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1319564 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 11823326 CDC37L1 cell division cycle 37 like 1, HSP90 cochaperone gene DOID:630 genetic disease ISO RGD:1319564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11823337 CAPZB capping actin protein of muscle Z-line subunit beta gene DOID:0060369 Parkinson's disease 6 ISO RGD:1347618 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11823337 CAPZB capping actin protein of muscle Z-line subunit beta gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1347618 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11823337 CAPZB capping actin protein of muscle Z-line subunit beta gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1347618 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11823337 CAPZB capping actin protein of muscle Z-line subunit beta gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1347618 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11823337 CAPZB capping actin protein of muscle Z-line subunit beta gene DOID:1307 dementia ISO RGD:1359099 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:20545768|REF_RGD_ID:9685031 11823337 CAPZB capping actin protein of muscle Z-line subunit beta gene DOID:305 carcinoma ISO RGD:1347618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11823337 CAPZB capping actin protein of muscle Z-line subunit beta gene DOID:630 genetic disease ISO RGD:1347618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11823337 CAPZB capping actin protein of muscle Z-line subunit beta gene DOID:9000039 Spinal Cord Injuries ISO RGD:1359099 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:20141154|REF_RGD_ID:9685028 11823337 CAPZB capping actin protein of muscle Z-line subunit beta gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1347618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11823337 CAPZB capping actin protein of muscle Z-line subunit beta gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1347618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 11823337 CAPZB capping actin protein of muscle Z-line subunit beta gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1347618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11823337 CAPZB capping actin protein of muscle Z-line subunit beta gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1347618 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11823349 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:10652 Alzheimer's disease ISO RGD:69020 D RGD:9068941 20200609 RGD PMID:20508993|REF_RGD_ID:5683632 11823349 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:13628 favism ISO RGD:69020 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:25741868 11823349 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:14330 Parkinson's disease ISO RGD:2845 D RGD:9068941 20200609 RGD PMID:20508280|REF_RGD_ID:5683633 11823349 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:1596 depressive disorder ISO RGD:69020 D RGD:9068941 20200609 RGD PMID:10578452|PMID:21512427|REF_RGD_ID:5683629|REF_RGD_ID:5683634 11823349 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:2030 anxiety disorder ISO RGD:10745 D RGD:9068941 20220825 MouseDO OMIM:607834 11823349 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:2030 anxiety disorder ISO RGD:69020 D RGD:9068941 20200609 RGD PMID:21512427|REF_RGD_ID:5683629 11823349 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:594 panic disorder ISO RGD:2845 D RGD:9068941 20200609 RGD PMID:21421022|REF_RGD_ID:5683630 11823349 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:594 panic disorder ISO RGD:69020 D RGD:9068941 20200609 RGD PMID:20817074|REF_RGD_ID:5683631 11823349 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:630 genetic disease ISO RGD:69020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11823349 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:8646 substance-induced psychosis ISO RGD:69020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19747927 11823349 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:8927 learning disability ISO RGD:69020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12591222 11823349 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:9000217 Stomach Neoplasms ISO RGD:69020 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21447133 11823349 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:9000495 Tremor ISO RGD:69020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11070179 11823349 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:9000641 Pain ISO RGD:10745 D RGD:9068941 20200609 RGD PMID:21945716|REF_RGD_ID:5683627 11823349 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:9000641 Pain ISO RGD:69020 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12595749 11823349 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:9000972 Fever ISO RGD:69020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21990073 11823349 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:9003805 Catalepsy ISO RGD:2845 D RGD:9068941 20200609 RGD PMID:20508280|REF_RGD_ID:5683633 11823349 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69020 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11823349 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:9004992 Apnea ISO RGD:69020 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10640309 11823349 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:9005632 Cocaine-Related Disorders ISO RGD:69020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11853856 11823349 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:9007001 Bradycardia ISO RGD:69020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2207497 11823349 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:9008023 Memory Disorders ISO RGD:69020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12591222 11823349 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:2845 D RGD:9068941 20200609 RGD PMID:21352823|REF_RGD_ID:5683628 11823349 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:9008802 Periodic Fever, Menstrual Cycle-Dependent ISO RGD:69020 D RGD:7240710 20180130 OMIM 11823349 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:9008802 Periodic Fever, Menstrual Cycle-Dependent ISO RGD:69020 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Menstrual cycle-dependent periodic fever PMID:21990073 11823360 LCK LCK proto-oncogene, Src family tyrosine kinase gene DOID:0111937 immunodeficiency 22 ISO RGD:1344945 D RGD:7240710 20180130 OMIM 11823360 LCK LCK proto-oncogene, Src family tyrosine kinase gene DOID:0111937 immunodeficiency 22 ISO RGD:1344945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to LCK deficiency PMID:16199547|PMID:17576681|PMID:22985903|PMID:25741868|PMID:27087313|PMID:28492532|PMID:9536098 11823360 LCK LCK proto-oncogene, Src family tyrosine kinase gene DOID:11204 allergic conjunctivitis ISO RGD:2994 D RGD:9068941 20200609 RGD protein:increased phosphorylation:T cell PMID:14507881|REF_RGD_ID:1600225 11823360 LCK LCK proto-oncogene, Src family tyrosine kinase gene DOID:12930 dilated cardiomyopathy ISO RGD:10861 D RGD:9068941 20200609 RGD PMID:17711737|REF_RGD_ID:2316557 11823360 LCK LCK proto-oncogene, Src family tyrosine kinase gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:2994 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:T cell PMID:16828835|REF_RGD_ID:1600221 11823360 LCK LCK proto-oncogene, Src family tyrosine kinase gene DOID:627 severe combined immunodeficiency ISO RGD:1344945 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:27748010 11823360 LCK LCK proto-oncogene, Src family tyrosine kinase gene DOID:630 genetic disease ISO RGD:1344945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11823400 PRR32 proline rich 32 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:2299192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11823400 PRR32 proline rich 32 gene DOID:1056 oculocerebrorenal syndrome ISO RGD:2299192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lowe syndrome PMID:17142121 11823400 PRR32 proline rich 32 gene DOID:12849 autistic disorder ISO RGD:2299192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11823400 PRR32 proline rich 32 gene DOID:630 genetic disease ISO RGD:2299192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11823414 MST1R macrophage stimulating 1 receptor gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 11823414 MST1R macrophage stimulating 1 receptor gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 11823414 MST1R macrophage stimulating 1 receptor gene DOID:3347 osteosarcoma ISO RGD:1315099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22235915 11823414 MST1R macrophage stimulating 1 receptor gene DOID:630 genetic disease ISO RGD:1315099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11823414 MST1R macrophage stimulating 1 receptor gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1315099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11823414 MST1R macrophage stimulating 1 receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1315099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22575169 11823414 MST1R macrophage stimulating 1 receptor gene DOID:9261 nasopharynx carcinoma ISO RGD:1315099 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nasopharyngeal carcinoma, susceptibility to, 3 PMID:25741868|PMID:26951679|PMID:28492532 11823414 MST1R macrophage stimulating 1 receptor gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:1315099 D RGD:7240710 20201104 OMIM 11823414 MST1R macrophage stimulating 1 receptor gene DOID:9538 multiple myeloma ISO RGD:1315099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11823414 MST1R macrophage stimulating 1 receptor gene DOID:9562 primary ciliary dyskinesia ISO RGD:1315099 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11823451 PEX1 peroxisomal biogenesis factor 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1346322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21846392|PMID:22871920|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28446956|PMID:28468868|PMID:28492532|PMID:30362618|PMID:30561787|PMID:31374812|PMID:31831025|PMID:32056211|PMID:32214227|PMID:9398847|PMID:9398848|PMID:9539740 11823451 PEX1 peroxisomal biogenesis factor 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile Refsum disease | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28446956|PMID:28468868|PMID:28492532|PMID:29419819|PMID:30362618|PMID:30561787|PMID:30733538|PMID:31319225|PMID:31374812|PMID:31742715|PMID:31831025|PMID:32056211|PMID:32203225|PMID:32214227|PMID:33083013|PMID:33708531|PMID:33955814|PMID:34513757|PMID:34744965|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 11823451 PEX1 peroxisomal biogenesis factor 1 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1346322 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9398847|PMID:9398848|PMID:9539740 11823451 PEX1 peroxisomal biogenesis factor 1 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1346322 D RGD:7240710 20190306 OMIM 11823451 PEX1 peroxisomal biogenesis factor 1 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25326635|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26594346|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28432012|PMID:28446956|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29261186|PMID:29419819|PMID:30362618|PMID:30561787|PMID:30733538|PMID:30755224|PMID:31374812|PMID:31742715|PMID:31831025|PMID:32056211|PMID:32203225|PMID:32214227|PMID:32596134|PMID:33083013|PMID:33708531|PMID:33955814|PMID:34513757|PMID:34744965|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 11823451 PEX1 peroxisomal biogenesis factor 1 gene DOID:0080623 Heimler syndrome 1 ISO RGD:1346322 D RGD:7240710 20180130 OMIM 11823451 PEX1 peroxisomal biogenesis factor 1 gene DOID:0080623 Heimler syndrome 1 ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21846392|PMID:21862673|PMID:22871920|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27302843|PMID:27872819|PMID:27882258|PMID:28454995|PMID:28468868|PMID:28492532|PMID:30362618|PMID:30733538|PMID:31374812|PMID:31831025|PMID:32203225|PMID:34513757|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 11823451 PEX1 peroxisomal biogenesis factor 1 gene DOID:0080918 polymicrogyria ISO RGD:1346322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:25741868|PMID:28492532 11823451 PEX1 peroxisomal biogenesis factor 1 gene DOID:0081240 peroxisome biogenesis disorder 1B ISO RGD:1346322 D RGD:7240710 20221005 OMIM 11823451 PEX1 peroxisomal biogenesis factor 1 gene DOID:0081240 peroxisome biogenesis disorder 1B ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27302843|PMID:27353947|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28446956|PMID:28468868|PMID:28492532|PMID:29419819|PMID:30362618|PMID:30561787|PMID:30733538|PMID:31374812|PMID:31742715|PMID:31831025|PMID:32056211|PMID:32203225|PMID:32214227|PMID:33708531|PMID:33955814|PMID:34513757|PMID:34744965|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 11823451 PEX1 peroxisomal biogenesis factor 1 gene DOID:0111640 autosomal recessive nonsyndromic deafness 111 ISO RGD:1346322 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 111 PMID:12402331|PMID:16086329|PMID:16141001|PMID:19105186|PMID:21031596|PMID:25525159|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:9398847 11823451 PEX1 peroxisomal biogenesis factor 1 gene DOID:10907 microcephaly ISO RGD:1346322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11823451 PEX1 peroxisomal biogenesis factor 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital retinal blindness PMID:10384394|PMID:10447258|PMID:11389485|PMID:12402331|PMID:15098231|PMID:16141001|PMID:17055079|PMID:19105186|PMID:20301621|PMID:21031596|PMID:21846392|PMID:21862673|PMID:22871920|PMID:24503136|PMID:25412400|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27872819|PMID:27882258|PMID:28492532|PMID:30362618|PMID:31374812|PMID:9398847|PMID:9398848 11823451 PEX1 peroxisomal biogenesis factor 1 gene DOID:1826 epilepsy ISO RGD:1346322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 11823451 PEX1 peroxisomal biogenesis factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11823451 PEX1 peroxisomal biogenesis factor 1 gene DOID:630 genetic disease ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:19105186|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24503136|PMID:25412400|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27302843|PMID:27872819|PMID:27882258|PMID:28397838|PMID:28454995|PMID:28468868|PMID:28492532|PMID:30362618|PMID:30733538|PMID:31374812|PMID:31831025|PMID:32203225|PMID:33708531|PMID:34513757|PMID:9398847|PMID:9398848 11823451 PEX1 peroxisomal biogenesis factor 1 gene DOID:8501 fundus dystrophy ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16141001|PMID:17055079|PMID:19105186|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21846392|PMID:21862673|PMID:22871920|PMID:23757202|PMID:24503136|PMID:25412400|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27872819|PMID:27882258|PMID:28468868|PMID:28492532|PMID:30362618|PMID:31374812|PMID:31831025|PMID:9398847|PMID:9398848 11823451 PEX1 peroxisomal biogenesis factor 1 gene DOID:9006420 Zellweger Leukodystrophy ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25326635|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26594346|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28432012|PMID:28446956|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29261186|PMID:29419819|PMID:30362618|PMID:30561787|PMID:30733538|PMID:30755224|PMID:31374812|PMID:31742715|PMID:31831025|PMID:32056211|PMID:32203225|PMID:32214227|PMID:32596134|PMID:33083013|PMID:33708531|PMID:33955814|PMID:34513757|PMID:34744965|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 11823451 PEX1 peroxisomal biogenesis factor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1346322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 11823451 PEX1 peroxisomal biogenesis factor 1 gene DOID:905 Zellweger syndrome ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25326635|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26594346|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28432012|PMID:28446956|PMID:28454995|PMID:28468868|PMID:28492532|PMID:28857144|PMID:29261186|PMID:29419819|PMID:30362618|PMID:30561787|PMID:30733538|PMID:30755224|PMID:31319225|PMID:31374812|PMID:31628608|PMID:31742715|PMID:31831025|PMID:32056211|PMID:32203225|PMID:32214227|PMID:32596134|PMID:32866347|PMID:33083013|PMID:33240318|PMID:33708531|PMID:33726816|PMID:33955814|PMID:34513757|PMID:34744965|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 11823451 PEX1 peroxisomal biogenesis factor 1 gene DOID:906 peroxisomal disease ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Peroxisomal disorder PMID:10384394|PMID:10447258|PMID:11389485|PMID:12402331|PMID:15098231|PMID:16141001|PMID:17055079|PMID:19105186|PMID:20301621|PMID:21031596|PMID:21846392|PMID:21862673|PMID:22871920|PMID:24503136|PMID:25412400|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27872819|PMID:27882258|PMID:28492532|PMID:30362618|PMID:31374812|PMID:9398847|PMID:9398848 11823487 ARL14EPL ADP ribosylation factor like GTPase 14 effector protein like gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:6771193 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11823487 ARL14EPL ADP ribosylation factor like GTPase 14 effector protein like gene DOID:12849 autistic disorder ISO RGD:6771193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11823487 ARL14EPL ADP ribosylation factor like GTPase 14 effector protein like gene DOID:630 genetic disease ISO RGD:6771193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11823487 ARL14EPL ADP ribosylation factor like GTPase 14 effector protein like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:6771193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11823487 ARL14EPL ADP ribosylation factor like GTPase 14 effector protein like gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:6771193 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11823493 MRPL1 mitochondrial ribosomal protein L1 gene DOID:630 genetic disease ISO RGD:1315701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11823493 MRPL1 mitochondrial ribosomal protein L1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1315701 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11823512 HSPA13 heat shock protein family A (Hsp70) member 13 gene DOID:10652 Alzheimer's disease ISO RGD:735529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 11823512 HSPA13 heat shock protein family A (Hsp70) member 13 gene DOID:630 genetic disease ISO RGD:735529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11823512 HSPA13 heat shock protein family A (Hsp70) member 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11823521 ACAA2 acetyl-CoA acyltransferase 2 gene DOID:1059 intellectual disability ISO RGD:733990 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11823521 ACAA2 acetyl-CoA acyltransferase 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:733990 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 11823521 ACAA2 acetyl-CoA acyltransferase 2 gene DOID:630 genetic disease ISO RGD:733990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11823521 ACAA2 acetyl-CoA acyltransferase 2 gene DOID:8398 osteoarthritis ISO RGD:733990 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11823544 RIT1 Ras like without CAAX 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1343782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11823544 RIT1 Ras like without CAAX 1 gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:1343782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome PMID:28492532 11823544 RIT1 Ras like without CAAX 1 gene DOID:0060578 Noonan syndrome 1 ISO RGD:1343782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:23791108|PMID:24033266|PMID:24469055|PMID:24803665|PMID:24901346|PMID:25049390|PMID:25124994|PMID:25741868|PMID:25959749|PMID:26242988|PMID:26518681|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27226556|PMID:28492532|PMID:29158550|PMID:29402968|PMID:29734338|PMID:30105547|PMID:30732632|PMID:30898653|PMID:31219622|PMID:31292302|PMID:32396283|PMID:8462668 11823544 RIT1 Ras like without CAAX 1 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1343782 D RGD:7240710 20180130 OMIM 11823544 RIT1 Ras like without CAAX 1 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1343782 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:17576681|PMID:23791108|PMID:24033266|PMID:2439608|PMID:24469055|PMID:24803665|PMID:24896146|PMID:24901346|PMID:24939608|PMID:25049390|PMID:25124994|PMID:25294908|PMID:25741868|PMID:25959749|PMID:26242988|PMID:26446362|PMID:26518681|PMID:2657980|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27109146|PMID:27226556|PMID:27699752|PMID:28347726|PMID:28492532|PMID:28554332|PMID:29158550|PMID:29402968|PMID:29734338|PMID:30105547|PMID:30293990|PMID:30684668|PMID:30692697|PMID:30712878|PMID:30732632|PMID:30872527|PMID:30898653|PMID:31040167|PMID:31219622|PMID:31292302|PMID:31463572|PMID:31573083|PMID:32304219|PMID:32396283|PMID:32860008|PMID:33144663|PMID:33452774|PMID:34008892|PMID:34237269|PMID:34306696|PMID:7109146|PMID:8462668|PMID:9536098 11823544 RIT1 Ras like without CAAX 1 gene DOID:0080690 RASopathy ISO RGD:1343782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:23791108|PMID:24033266|PMID:2439608|PMID:24469055|PMID:24803665|PMID:24896146|PMID:24901346|PMID:24939608|PMID:25049390|PMID:25124994|PMID:25294908|PMID:25741868|PMID:25959749|PMID:26242988|PMID:26446362|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27109146|PMID:27226556|PMID:28347726|PMID:28492532|PMID:29158550|PMID:29402968|PMID:29734338|PMID:30105547|PMID:30293990|PMID:30712878|PMID:30732632|PMID:30898653|PMID:31040167|PMID:31219622|PMID:31292302|PMID:32304219|PMID:32396283|PMID:32860008|PMID:33144663|PMID:33452774|PMID:34008892|PMID:34237269|PMID:34306696|PMID:7109146|PMID:8462668 11823544 RIT1 Ras like without CAAX 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1343782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11823544 RIT1 Ras like without CAAX 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1343782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11823544 RIT1 Ras like without CAAX 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1343782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11823544 RIT1 Ras like without CAAX 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1343782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11823544 RIT1 Ras like without CAAX 1 gene DOID:1856 cherubism ISO RGD:1343782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11823544 RIT1 Ras like without CAAX 1 gene DOID:3490 Noonan syndrome ISO RGD:1343782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:23791108|PMID:24033266|PMID:2439608|PMID:24469055|PMID:24803665|PMID:24896146|PMID:24901346|PMID:24939608|PMID:25049390|PMID:25124994|PMID:25294908|PMID:25741868|PMID:25959749|PMID:26242988|PMID:26446362|PMID:2657980|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27109146|PMID:27226556|PMID:27699752|PMID:28347726|PMID:28492532|PMID:29158550|PMID:29402968|PMID:29734338|PMID:30105547|PMID:30293990|PMID:30712878|PMID:30732632|PMID:30898653|PMID:31040167|PMID:31219622|PMID:31292302|PMID:32304219|PMID:32396283|PMID:32860008|PMID:33144663|PMID:33452774|PMID:34008892|PMID:34237269|PMID:34306696|PMID:7109146|PMID:8462668 11823544 RIT1 Ras like without CAAX 1 gene DOID:5812 MHC class II deficiency ISO RGD:1343782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11823544 RIT1 Ras like without CAAX 1 gene DOID:630 genetic disease ISO RGD:1343782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23791108|PMID:24033266|PMID:24469055|PMID:24803665|PMID:24939608|PMID:25741868|PMID:25959749|PMID:26446362|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27109146|PMID:27226556|PMID:28347726|PMID:28492532|PMID:29734338|PMID:30692697|PMID:30732632|PMID:30872527|PMID:8462668 11823544 RIT1 Ras like without CAAX 1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1343782 D RGD:9068941 20220721 RGD human cells in mouse model PMID:31247273|REF_RGD_ID:152999016 11823544 RIT1 Ras like without CAAX 1 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:1343782 D RGD:9068941 20220721 RGD associated with esophagus squamous cell carcinoma; human cells in mouse model PMID:30348939|REF_RGD_ID:152999018 11823544 RIT1 Ras like without CAAX 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11823544 RIT1 Ras like without CAAX 1 gene DOID:9002647 Megalencephaly - Cutis Marmorata Telangiectatica Congenita ISO RGD:1343782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MACROCEPHALY-CAPILLARY MALFORMATION PMID:24469055|PMID:25741868|PMID:28492532 11823544 RIT1 Ras like without CAAX 1 gene DOID:9003133 Hypertelorism ISO RGD:1343782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:24033266|PMID:25741868|PMID:26518681|PMID:27101134|PMID:28492532|PMID:28554332|PMID:29734338 11823544 RIT1 Ras like without CAAX 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1343782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:23791108|PMID:24469055|PMID:25049390|PMID:25124994|PMID:25741868|PMID:26242988|PMID:26446362|PMID:26714497|PMID:26757980|PMID:27101134|PMID:28492532 11823544 RIT1 Ras like without CAAX 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11823565 PRRX1 paired related homeobox 1 gene DOID:0060224 atrial fibrillation ISO RGD:1606834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22544366 11823565 PRRX1 paired related homeobox 1 gene DOID:0060341 agnathia-otocephaly complex ISO RGD:1606834 D RGD:7240710 20180130 OMIM 11823565 PRRX1 paired related homeobox 1 gene DOID:0060341 agnathia-otocephaly complex ISO RGD:1606834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agnathia-otocephaly complex PMID:12244557|PMID:21294718|PMID:22211708|PMID:22674740|PMID:23444262|PMID:25741868 11823565 PRRX1 paired related homeobox 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11823565 PRRX1 paired related homeobox 1 gene DOID:3213 demyelinating disease ISO RGD:1606834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30566868 11823565 PRRX1 paired related homeobox 1 gene DOID:630 genetic disease ISO RGD:1606834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11823565 PRRX1 paired related homeobox 1 gene DOID:9001031 Retrognathia ISO RGD:1606834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23444262 11823565 PRRX1 paired related homeobox 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 11823565 PRRX1 paired related homeobox 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1606834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 11823565 PRRX1 paired related homeobox 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:0050452 mevalonic aciduria ISO RGD:731579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12477733 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:0080000 muscular disease ISO RGD:731579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23953224 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:0080000 muscular disease ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:21360500|REF_RGD_ID:5508448 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:2803 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:2803 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:19913842|REF_RGD_ID:5508690 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:0080208 non-alcoholic fatty liver disease disease_progression ISO RGD:2803 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:23117815|REF_RGD_ID:15045604 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:10652 Alzheimer's disease ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:17724290|REF_RGD_ID:5508460 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:10787 premature menopause ISO RGD:2803 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:24619822|PMID:25263431|REF_RGD_ID:15045610|REF_RGD_ID:19165129 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:11100 Q fever ISO RGD:731579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16469060 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:12858 Huntington's disease ISO RGD:731580 D RGD:9068941 20200609 RGD PMID:17702587|REF_RGD_ID:5508462 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:1307 dementia ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:17640385|REF_RGD_ID:5508465 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:13141 uveitis ISO RGD:731580 D RGD:9068941 20200609 RGD PMID:15699169|REF_RGD_ID:5508475 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:14330 Parkinson's disease ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:18184918|REF_RGD_ID:5508459 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:2044 drug-induced hepatitis ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:16140414|REF_RGD_ID:2316848 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:2841 asthma ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:20084838|REF_RGD_ID:5508450 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:3021 acute kidney failure ISO RGD:731580 D RGD:9068941 20200609 RGD associated with Sepsis PMID:16557230|REF_RGD_ID:5508471 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:3323 Sandhoff disease ISO RGD:731579 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:3393 coronary artery disease ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:12742282|REF_RGD_ID:5508477 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:417 autoimmune disease ISO RGD:731579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23953224 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:630 genetic disease ISO RGD:731579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:6432 pulmonary hypertension ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:12750068|REF_RGD_ID:5508701 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:684 hepatocellular carcinoma ISO RGD:731579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110|PMID:9207284 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:783 end stage renal disease ISO RGD:2803 D RGD:9068941 20200609 RGD associated with Hypertension PMID:21119529|REF_RGD_ID:5508686 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:783 end stage renal disease ISO RGD:731579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:784 chronic kidney disease ISO RGD:2803 D RGD:9068941 20210514 RGD mRNA, protein:increased expression:liver PMID:12841361|REF_RGD_ID:1300058 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:8805 intermediate coronary syndrome ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:18333374|REF_RGD_ID:5508458 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:893 Wilson disease ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:17303181|REF_RGD_ID:2292672 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9000528 Coronary Disease disease_progression ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:15809366|REF_RGD_ID:5508474 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9000808 Hypercholesterolemia ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:17250646|REF_RGD_ID:5508696 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9000808 Hypercholesterolemia ISO RGD:2803 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:24619822|REF_RGD_ID:19165129 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9000808 Hypercholesterolemia ISO RGD:731579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8593127 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9000808 Hypercholesterolemia ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:1611649|REF_RGD_ID:5508480 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9000808 Hypercholesterolemia ISO RGD:731580 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:25168180|REF_RGD_ID:13782271 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9000998 Brain Injuries ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:18562561|REF_RGD_ID:5508455 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9002457 Experimental Arthritis ISO RGD:731580 D RGD:9068941 20200609 RGD PMID:17119970|REF_RGD_ID:5508468 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:14691063|REF_RGD_ID:5508476 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:731580 D RGD:9068941 20200609 RGD PMID:17085013|REF_RGD_ID:5508469 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9004009 Reperfusion Injury ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:21724106|REF_RGD_ID:5508445 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9004009 Reperfusion Injury ISO RGD:2803 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18398369|REF_RGD_ID:2315888 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9004009 Reperfusion Injury ISO RGD:731580 D RGD:9068941 20200609 RGD PMID:16009498|REF_RGD_ID:5508473 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9004610 Acute Lung Injury ISO RGD:731580 D RGD:9068941 20200609 RGD PMID:16922808|REF_RGD_ID:5508470 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9005036 Bacteremia severity ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:11565076|REF_RGD_ID:5508478 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:731579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12477733 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:15111316|REF_RGD_ID:2313760 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9006113 Gallstones ISO RGD:731579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7461467 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9006646 Metabolic Syndrome ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:19461650|REF_RGD_ID:5508692 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9006647 Experimental Autoimmune Neuritis disease_progression ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:17286627|REF_RGD_ID:5508466 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9007096 Stroke ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:16316970|REF_RGD_ID:5508472 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9007096 Stroke ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:16316970|REF_RGD_ID:5508472 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9009046 Surgical Wound Dehiscence ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:19578821|REF_RGD_ID:5508683 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9351 diabetes mellitus ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:15476492|REF_RGD_ID:2313755 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9352 type 2 diabetes mellitus ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:15312879|REF_RGD_ID:2313759 11823580 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9352 type 2 diabetes mellitus ISO RGD:731579 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:17870053|REF_RGD_ID:2313753 11823604 MTCP1 mature T cell proliferation 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1343111 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11823604 MTCP1 mature T cell proliferation 1 gene DOID:0050476 Barth syndrome ISO RGD:1343111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11823604 MTCP1 mature T cell proliferation 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:1343111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11823604 MTCP1 mature T cell proliferation 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1343111 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11823604 MTCP1 mature T cell proliferation 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1343111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11823604 MTCP1 mature T cell proliferation 1 gene DOID:11372 megacolon ISO RGD:1343111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11823604 MTCP1 mature T cell proliferation 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11823604 MTCP1 mature T cell proliferation 1 gene DOID:12849 autistic disorder ISO RGD:1343111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11823604 MTCP1 mature T cell proliferation 1 gene DOID:13628 favism ISO RGD:1343111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11823604 MTCP1 mature T cell proliferation 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1343111 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11823604 MTCP1 mature T cell proliferation 1 gene DOID:607 paraplegia ISO RGD:1343111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11823604 MTCP1 mature T cell proliferation 1 gene DOID:9002720 Splenomegaly ISO RGD:1343111 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11823615 PKD1L3 polycystin 1 like 3, transient receptor potential channel interacting gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1317476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11823615 PKD1L3 polycystin 1 like 3, transient receptor potential channel interacting gene DOID:630 genetic disease ISO RGD:1317476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11823648 DIO3 iodothyronine deiodinase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:68623 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24781735 11823648 DIO3 iodothyronine deiodinase 3 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:68623 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 11823648 DIO3 iodothyronine deiodinase 3 gene DOID:6000 congestive heart failure ISO RGD:68420 D RGD:9068941 20200609 RGD associated with Hypertrophy, Right Ventricular;mRNA, protein:increased expression:heart right ventricle PMID:18259611|REF_RGD_ID:2303417 11823648 DIO3 iodothyronine deiodinase 3 gene DOID:630 genetic disease ISO RGD:68623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11823648 DIO3 iodothyronine deiodinase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:68623 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26825960 11823648 DIO3 iodothyronine deiodinase 3 gene DOID:9008939 Breast Neoplasms ISO RGD:68623 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25330770 11823654 NUP153 nucleoporin 153 gene DOID:630 genetic disease ISO RGD:731840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11823654 NUP153 nucleoporin 153 gene DOID:9007098 Pulmonary Atresia ISO RGD:731840 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia 11823683 FGL1 fibrinogen like 1 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:737041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 11823683 FGL1 fibrinogen like 1 gene DOID:630 genetic disease ISO RGD:737041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11823702 ANTXR1 ANTXR cell adhesion molecule 1 gene DOID:0060081 triple-receptor negative breast cancer ISO RGD:1316162 D RGD:9068941 20200609 RGD protein:increased expression:breast: PMID:21965755|REF_RGD_ID:9684941 11823702 ANTXR1 ANTXR cell adhesion molecule 1 gene DOID:0080199 colorectal carcinoma treatment ISO RGD:1316162 D RGD:9068941 20200609 RGD PMID:19528090|REF_RGD_ID:9684940 11823702 ANTXR1 ANTXR cell adhesion molecule 1 gene DOID:0112249 GAPO syndrome ISO RGD:1316162 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: GAPO syndrome PMID:23602711|PMID:24033266|PMID:25045128|PMID:25741868|PMID:28492532|PMID:9180938|PMID:9298746 11823702 ANTXR1 ANTXR cell adhesion molecule 1 gene DOID:0112249 GAPO syndrome susceptibility ISO RGD:1316162 D RGD:7240710 20230505 OMIM 11823702 ANTXR1 ANTXR cell adhesion molecule 1 gene DOID:1612 breast cancer disease_progression ISO RGD:1316162 D RGD:9068941 20200609 RGD mRNA:increased expression:breast: PMID:17016666|REF_RGD_ID:9684946 11823702 ANTXR1 ANTXR cell adhesion molecule 1 gene DOID:4948 gallbladder carcinoma severity ISO RGD:1316162 D RGD:9068941 20200609 RGD PMID:21545221|REF_RGD_ID:9684943 11823702 ANTXR1 ANTXR cell adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:1316162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:28655553|PMID:29436111 11823702 ANTXR1 ANTXR cell adhesion molecule 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1316163 D RGD:9068941 20200609 RGD PMID:20650339|REF_RGD_ID:9684932 11823702 ANTXR1 ANTXR cell adhesion molecule 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1316162 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental; PMID:22085271|REF_RGD_ID:9684855 11823702 ANTXR1 ANTXR cell adhesion molecule 1 gene DOID:9004118 Experimental Melanoma ISO RGD:1316163 D RGD:9068941 20200609 RGD PMID:19622764|REF_RGD_ID:9684925 11823702 ANTXR1 ANTXR cell adhesion molecule 1 gene DOID:9004118 Experimental Melanoma treatment ISO RGD:1316162 D RGD:9068941 20200609 RGD PMID:19609240|REF_RGD_ID:9684939 11823702 ANTXR1 ANTXR cell adhesion molecule 1 gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:1316162 D RGD:9068941 20200609 RGD PMID:22085271|REF_RGD_ID:9684855 11823702 ANTXR1 ANTXR cell adhesion molecule 1 gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:1316162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY PMID:18931684 11823702 ANTXR1 ANTXR cell adhesion molecule 1 gene DOID:9008660 Infantile Capillary Hemangioma susceptibility ISO RGD:1316162 D RGD:7240710 20230505 OMIM 11823702 ANTXR1 ANTXR cell adhesion molecule 1 gene DOID:9256 colorectal cancer ISO RGD:1316162 D RGD:9068941 20200609 RGD mRNA:increased expression:blood: PMID:21573768|REF_RGD_ID:9684945 11823737 WDR81 WD repeat domain 81 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1606736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 11823737 WDR81 WD repeat domain 81 gene DOID:0112234 microlissencephaly ISO RGD:1606736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microlissencephaly 11823737 WDR81 WD repeat domain 81 gene DOID:1059 intellectual disability ISO RGD:1606736 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:16371500|PMID:21885617|PMID:25741868 11823737 WDR81 WD repeat domain 81 gene DOID:10907 microcephaly ISO RGD:1606736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:32581362 11823737 WDR81 WD repeat domain 81 gene DOID:630 genetic disease ISO RGD:1606736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26437881|PMID:28097321|PMID:28492532|PMID:28940097|PMID:30560021|PMID:31363758|PMID:31785789 11823737 WDR81 WD repeat domain 81 gene DOID:9006893 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 ISO RGD:1606736 D RGD:7240710 20180130 OMIM 11823737 WDR81 WD repeat domain 81 gene DOID:9006893 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 ISO RGD:1606736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 2 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 PMID:16371500|PMID:21885617|PMID:25741868|PMID:26437881|PMID:28097321|PMID:28492532|PMID:28940097|PMID:28969387 11823737 WDR81 WD repeat domain 81 gene DOID:9008539 Perinatal Death ISO RGD:1606736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal death PMID:25558065|PMID:25741868|PMID:28556411 11823737 WDR81 WD repeat domain 81 gene DOID:9009189 Congenital Hydrocephalus 3, with Brain Anomalies ISO RGD:1606736 D RGD:7240710 20190315 OMIM 11823737 WDR81 WD repeat domain 81 gene DOID:9009189 Congenital Hydrocephalus 3, with Brain Anomalies ISO RGD:1606736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Hydrocephalus, congenital, 3, with brain anomalies PMID:16371500|PMID:21885617|PMID:25558065|PMID:25741868|PMID:28492532|PMID:28556411|PMID:30560021|PMID:31363758 11823762 P2RX1 purinergic receptor P2X 1 gene DOID:3602 toxic encephalopathy ISO RGD:736780 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11823762 P2RX1 purinergic receptor P2X 1 gene DOID:3613 Canavan disease ISO RGD:736780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:12638939|PMID:19932039|PMID:28492532 11823762 P2RX1 purinergic receptor P2X 1 gene DOID:630 genetic disease ISO RGD:736780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11823778 MMP13 matrix metallopeptidase 13 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1343267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 11823778 MMP13 matrix metallopeptidase 13 gene DOID:0080027 spondyloepimetaphyseal dysplasia ISO RGD:1343267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia 11823778 MMP13 matrix metallopeptidase 13 gene DOID:0080030 spondyloepimetaphyseal dysplasia, Missouri type ISO RGD:1343267 D RGD:7240710 20180130 OMIM 11823778 MMP13 matrix metallopeptidase 13 gene DOID:0080030 spondyloepimetaphyseal dysplasia, Missouri type ISO RGD:1343267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Missouri type PMID:16167086|PMID:25741868|PMID:28492532|PMID:30439533|PMID:8412645 11823778 MMP13 matrix metallopeptidase 13 gene DOID:0080176 meningococcal meningitis ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:10430840|REF_RGD_ID:8547971 11823778 MMP13 matrix metallopeptidase 13 gene DOID:10283 prostate cancer disease_progression ISO RGD:1343267 D RGD:9068941 20200609 RGD protein:increased expression:plasma:higher concentration in patients with metastases vs non-metastatic PCa, BPH or control patients PMID:15517230|REF_RGD_ID:2293604 11823778 MMP13 matrix metallopeptidase 13 gene DOID:10325 silicosis ISO RGD:620196 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, fibroblast PMID:9614183|REF_RGD_ID:10043156 11823778 MMP13 matrix metallopeptidase 13 gene DOID:1059 intellectual disability ISO RGD:1343267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11823778 MMP13 matrix metallopeptidase 13 gene DOID:10808 gastric ulcer ISO RGD:620196 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach PMID:15375341|REF_RGD_ID:10043177 11823778 MMP13 matrix metallopeptidase 13 gene DOID:11054 urinary bladder cancer ISO RGD:1343267 D RGD:9068941 20200609 RGD urinary bladder transitional-cell carcinomas; mRNA:increased expression:tumor:13/23 (52%) tumors vs no expression in normal urothelium, expression at the invading edge of tumors PMID:11054671|REF_RGD_ID:2293609 11823778 MMP13 matrix metallopeptidase 13 gene DOID:12236 primary biliary cholangitis treatment ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:20056896|REF_RGD_ID:8552731 11823778 MMP13 matrix metallopeptidase 13 gene DOID:1245 vulva cancer ISO RGD:1343267 D RGD:9068941 20200609 RGD vulvar squamous cell carcinoma (SCC); mRNA:increased expression:tumor:expressed in 9/12 tumors but not in normal vulvar epithelium, cervical SCCs, or endometrial or ovarian adenocarcinomas PMID:10027405|REF_RGD_ID:2293612 11823778 MMP13 matrix metallopeptidase 13 gene DOID:12704 ataxia telangiectasia ISO RGD:1343267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11823778 MMP13 matrix metallopeptidase 13 gene DOID:12930 dilated cardiomyopathy ISO RGD:1552243 D RGD:9068941 20200609 RGD PMID:16037568|REF_RGD_ID:1582576 11823778 MMP13 matrix metallopeptidase 13 gene DOID:13714 anodontia ISO RGD:1343267 D RGD:9068941 20200609 RGD DNA:SNP: :rs2252070 (human) PMID:24351915|REF_RGD_ID:13204812 11823778 MMP13 matrix metallopeptidase 13 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:16286264|REF_RGD_ID:10043176 11823778 MMP13 matrix metallopeptidase 13 gene DOID:2316 brain ischemia ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:16112096|REF_RGD_ID:1582554 11823778 MMP13 matrix metallopeptidase 13 gene DOID:2349 arteriosclerosis ISO RGD:1552243 D RGD:9068941 20200609 RGD PMID:16230484|REF_RGD_ID:1582544 11823778 MMP13 matrix metallopeptidase 13 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:1343267 D RGD:9068941 20200609 RGD PMID:12392760|REF_RGD_ID:1582549 11823778 MMP13 matrix metallopeptidase 13 gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1343267 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:tumor:associated with microinvasion during the transition from ductal carcinoma in situ to invasive carcinoma, also expressed in all invasive ductal carcinomas tested PMID:11585740|REF_RGD_ID:2293606 11823778 MMP13 matrix metallopeptidase 13 gene DOID:4001 ovarian carcinoma ISO RGD:1343267 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:19258954|REF_RGD_ID:2306074 11823778 MMP13 matrix metallopeptidase 13 gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:1343267 D RGD:9068941 20200609 RGD PMID:12974393|REF_RGD_ID:2306083 11823778 MMP13 matrix metallopeptidase 13 gene DOID:4362 cervical cancer ISO RGD:1343267 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix PMID:17243165|REF_RGD_ID:2306082 11823778 MMP13 matrix metallopeptidase 13 gene DOID:5082 liver cirrhosis ISO RGD:1552243 D RGD:9068941 20200609 RGD PMID:21382168|REF_RGD_ID:7207361 11823778 MMP13 matrix metallopeptidase 13 gene DOID:5844 myocardial infarction ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:15782494|REF_RGD_ID:1582556 11823778 MMP13 matrix metallopeptidase 13 gene DOID:6000 congestive heart failure ISO RGD:620196 D RGD:9068941 20200609 RGD associated with Hypertension PMID:10773234|REF_RGD_ID:2290467 11823778 MMP13 matrix metallopeptidase 13 gene DOID:6000 congestive heart failure disease_progression ISO RGD:620196 D RGD:9068941 20200609 RGD protein:increased expression:left ventricle (rat) PMID:10773235|REF_RGD_ID:1582587 11823778 MMP13 matrix metallopeptidase 13 gene DOID:630 genetic disease ISO RGD:1343267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11823778 MMP13 matrix metallopeptidase 13 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1343267 D RGD:9068941 20200609 RGD PMID:15156361|REF_RGD_ID:1582548 11823778 MMP13 matrix metallopeptidase 13 gene DOID:7693 abdominal aortic aneurysm no_association ISO RGD:1343267 D RGD:9068941 20200609 RGD PMID:15944607|REF_RGD_ID:1580157 11823778 MMP13 matrix metallopeptidase 13 gene DOID:824 periodontitis ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:19393988|REF_RGD_ID:10043174 11823778 MMP13 matrix metallopeptidase 13 gene DOID:8398 osteoarthritis ISO RGD:1343267 D RGD:9068941 20200609 RGD PMID:11134178|PMID:16128596|REF_RGD_ID:10043117|REF_RGD_ID:7207089 11823778 MMP13 matrix metallopeptidase 13 gene DOID:8398 osteoarthritis ISO RGD:1552243 D RGD:9068941 20200609 RGD PMID:23982761|REF_RGD_ID:10043101 11823778 MMP13 matrix metallopeptidase 13 gene DOID:8398 osteoarthritis ISO RGD:620196 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cartilage PMID:17530714|REF_RGD_ID:2300093 11823778 MMP13 matrix metallopeptidase 13 gene DOID:8398 osteoarthritis treatment ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:22890185|REF_RGD_ID:7207218 11823778 MMP13 matrix metallopeptidase 13 gene DOID:90 degenerative disc disease ISO RGD:620196 D RGD:9068941 20200609 RGD mRNA:increased expression:intervertebral disc PMID:20948465|REF_RGD_ID:8661231 11823778 MMP13 matrix metallopeptidase 13 gene DOID:90 degenerative disc disease treatment ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:20472983|REF_RGD_ID:2325859 11823778 MMP13 matrix metallopeptidase 13 gene DOID:90 degenerative disc disease treatment ISO RGD:620196 D RGD:9068941 20200609 RGD associated with Renal Insufficiency PMID:19063844|REF_RGD_ID:10043178 11823778 MMP13 matrix metallopeptidase 13 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:16961140|REF_RGD_ID:1582545 11823778 MMP13 matrix metallopeptidase 13 gene DOID:9000616 Metaphyseal Anadysplasia 1 ISO RGD:1343267 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Metaphyseal anadysplasia 1, autosomal dominant PMID:19615667|PMID:28492532|PMID:30439533 11823778 MMP13 matrix metallopeptidase 13 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1343267 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell;mRNA, protein:increased expression:bone PMID:18709334|REF_RGD_ID:2306080 11823778 MMP13 matrix metallopeptidase 13 gene DOID:9001044 Choroidal Neovascularization ISO RGD:1343267 D RGD:9068941 20200609 RGD PMID:20700625|REF_RGD_ID:10043118 11823778 MMP13 matrix metallopeptidase 13 gene DOID:9001044 Choroidal Neovascularization ISO RGD:1552243 D RGD:9068941 20200609 RGD PMID:20700625|REF_RGD_ID:10043118 11823778 MMP13 matrix metallopeptidase 13 gene DOID:9001193 Metaphyseal Anadysplasia ISO RGD:1343267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metaphyseal anadysplasia PMID:25741868|PMID:28492532 11823778 MMP13 matrix metallopeptidase 13 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343267 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17404313 11823778 MMP13 matrix metallopeptidase 13 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:10623612|REF_RGD_ID:10043161 11823778 MMP13 matrix metallopeptidase 13 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343267 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15138554 11823778 MMP13 matrix metallopeptidase 13 gene DOID:9002331 Knee Osteoarthritis ameliorates ISO RGD:620196 D RGD:9068941 20211015 RGD PMID:31258642|REF_RGD_ID:150519887 11823778 MMP13 matrix metallopeptidase 13 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1552243 D RGD:9068941 20200609 RGD PMID:24244039|REF_RGD_ID:8694124 11823778 MMP13 matrix metallopeptidase 13 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:11435459|REF_RGD_ID:1582329 11823778 MMP13 matrix metallopeptidase 13 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:24244039|REF_RGD_ID:8694124 11823778 MMP13 matrix metallopeptidase 13 gene DOID:9002906 Multiple Organ Failure ISO RGD:1552243 D RGD:9068941 20200609 RGD protein:increased activity:liver, lung, spleen (mouse) PMID:15259001|REF_RGD_ID:7207133 11823778 MMP13 matrix metallopeptidase 13 gene DOID:9004907 Metaphyseal Chondrodysplasia, Spahr Type ISO RGD:1343267 D RGD:7240710 20190315 OMIM 11823778 MMP13 matrix metallopeptidase 13 gene DOID:9004907 Metaphyseal Chondrodysplasia, Spahr Type ISO RGD:1343267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, Spahr type PMID:13915518|PMID:19615667|PMID:24648384|PMID:24781753|PMID:25741868|PMID:27576021|PMID:28492532|PMID:31413057 11823778 MMP13 matrix metallopeptidase 13 gene DOID:9005233 Experimental Mammary Neoplasms severity ISO RGD:1552243 D RGD:9068941 20200609 RGD PMID:18698413|REF_RGD_ID:2306081 11823778 MMP13 matrix metallopeptidase 13 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:620196 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cartilage PMID:22670655|REF_RGD_ID:10043109 11823778 MMP13 matrix metallopeptidase 13 gene DOID:9007482 Bone Metastasis ISO RGD:1343267 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell; mRNA, protein:increased expression:bone (human) PMID:18709334|REF_RGD_ID:2306080 11823778 MMP13 matrix metallopeptidase 13 gene DOID:9007877 Fetal Hypoxia ISO RGD:620196 D RGD:9068941 20200609 RGD protein:increased expression:heart (rat) PMID:21856922|REF_RGD_ID:7207283 11823778 MMP13 matrix metallopeptidase 13 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1343267 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17728286 11823778 MMP13 matrix metallopeptidase 13 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1343267 D RGD:9068941 20200609 RGD protein:increased expression:tumor:positive correlation with lymph node metastases (p<0.001), negative correlation with overall survival (p=0.0008) PMID:18373849|REF_RGD_ID:2293603 11823804 LOC100995418 olfactory receptor 8G5 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1352593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11823804 LOC100995418 olfactory receptor 8G5 gene DOID:5419 schizophrenia ISO RGD:1352593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11823804 LOC100995418 olfactory receptor 8G5 gene DOID:630 genetic disease ISO RGD:1352593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11823804 LOC100995418 olfactory receptor 8G5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1352593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11823804 LOC100995418 olfactory receptor 8G5 gene DOID:9007661 Dwarfism ISO RGD:1352593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11823832 MESD mesoderm development LRP chaperone gene DOID:0050726 tyrosinemia type I ISO RGD:1321194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tyrosinemia type I PMID:28492532 11823832 MESD mesoderm development LRP chaperone gene DOID:0111849 osteogenesis imperfecta type 20 ISO RGD:1321194 D RGD:7240710 20191030 OMIM 11823832 MESD mesoderm development LRP chaperone gene DOID:0111849 osteogenesis imperfecta type 20 ISO RGD:1321194 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type 20 PMID:31564437|PMID:33596325 11823832 MESD mesoderm development LRP chaperone gene DOID:2717 Bloom syndrome ISO RGD:1321194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11823832 MESD mesoderm development LRP chaperone gene DOID:630 genetic disease ISO RGD:1321194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11823832 MESD mesoderm development LRP chaperone gene DOID:9256 colorectal cancer ISO RGD:1321194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11823839 UBE2Q2 ubiquitin conjugating enzyme E2 Q2 gene DOID:2717 Bloom syndrome ISO RGD:1605308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11823839 UBE2Q2 ubiquitin conjugating enzyme E2 Q2 gene DOID:5419 schizophrenia ISO RGD:1605308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11823839 UBE2Q2 ubiquitin conjugating enzyme E2 Q2 gene DOID:630 genetic disease ISO RGD:1605308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11823839 UBE2Q2 ubiquitin conjugating enzyme E2 Q2 gene DOID:9256 colorectal cancer ISO RGD:1605308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11823883 ST7L suppression of tumorigenicity 7 like gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1342887 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 11823883 ST7L suppression of tumorigenicity 7 like gene DOID:630 genetic disease ISO RGD:1342887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11823931 RPL4 ribosomal protein L4 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:732803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11823931 RPL4 ribosomal protein L4 gene DOID:2717 Bloom syndrome ISO RGD:732803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11823931 RPL4 ribosomal protein L4 gene DOID:630 genetic disease ISO RGD:732803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11823931 RPL4 ribosomal protein L4 gene DOID:9002189 High Myopia ISO RGD:732803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11823931 RPL4 ribosomal protein L4 gene DOID:9004484 Sepsis ISO RGD:732803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27978524 11823931 RPL4 ribosomal protein L4 gene DOID:9256 colorectal cancer ISO RGD:732803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11823946 NUP107 nucleoporin 107 gene DOID:0080385 nephrotic syndrome type 11 ISO RGD:732596 D RGD:7240710 20190315 OMIM 11823946 NUP107 nucleoporin 107 gene DOID:0080385 nephrotic syndrome type 11 ISO RGD:732596 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 11 PMID:25741868|PMID:26411495|PMID:28492532|PMID:30179222 11823946 NUP107 nucleoporin 107 gene DOID:0080498 ovarian dysgenesis 6 ISO RGD:732596 D RGD:7240710 20190315 OMIM 11823946 NUP107 nucleoporin 107 gene DOID:0080498 ovarian dysgenesis 6 ISO RGD:732596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 6 PMID:26485283 11823946 NUP107 nucleoporin 107 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:732596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 11823946 NUP107 nucleoporin 107 gene DOID:5426 primary ovarian insufficiency ISO RGD:732596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 11823946 NUP107 nucleoporin 107 gene DOID:630 genetic disease ISO RGD:732596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11823946 NUP107 nucleoporin 107 gene DOID:9001199 Galloway-Mowat Syndrome 7 ISO RGD:732596 D RGD:7240710 20190315 OMIM 11823946 NUP107 nucleoporin 107 gene DOID:9001199 Galloway-Mowat Syndrome 7 ISO RGD:732596 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 7 PMID:25558065|PMID:25741868|PMID:28117080|PMID:28280135|PMID:28492532|PMID:30179222 11823946 NUP107 nucleoporin 107 gene DOID:9008086 Developmental Disabilities ISO RGD:732596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065|PMID:25741868|PMID:28117080|PMID:28280135|PMID:30179222 11824017 FSD1 fibronectin type III and SPRY domain containing 1 gene DOID:13938 amenorrhea ISO RGD:1345798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11824017 FSD1 fibronectin type III and SPRY domain containing 1 gene DOID:630 genetic disease ISO RGD:1345798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824017 FSD1 fibronectin type III and SPRY domain containing 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1345798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11824043 NDUFB5 NADH:ubiquinone oxidoreductase subunit B5 gene DOID:0080600 COVID-19 ISO RGD:1314222 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11824043 NDUFB5 NADH:ubiquinone oxidoreductase subunit B5 gene DOID:0111546 Currarino syndrome ISO RGD:1314222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11824043 NDUFB5 NADH:ubiquinone oxidoreductase subunit B5 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1314222 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 11824043 NDUFB5 NADH:ubiquinone oxidoreductase subunit B5 gene DOID:5844 myocardial infarction treatment ISO RGD:1314223 D RGD:9068941 20200609 RGD PMID:24692845|REF_RGD_ID:13801194 11824043 NDUFB5 NADH:ubiquinone oxidoreductase subunit B5 gene DOID:630 genetic disease ISO RGD:1314222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824043 NDUFB5 NADH:ubiquinone oxidoreductase subunit B5 gene DOID:9003631 Diastolic Dysfunction ISO RGD:1305909 D RGD:9068941 20200609 RGD associated with obesity;mRNA, protein:decreased expression:myocardium PMID:26790384|REF_RGD_ID:13801193 11824058 TTC9 tetratricopeptide repeat domain 9 gene DOID:2559 opiate dependence ISO RGD:1318967 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 11824058 TTC9 tetratricopeptide repeat domain 9 gene DOID:630 genetic disease ISO RGD:1318967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824064 DNALI1 dynein axonemal light intermediate chain 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11824064 DNALI1 dynein axonemal light intermediate chain 1 gene DOID:630 genetic disease ISO RGD:1319504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824064 DNALI1 dynein axonemal light intermediate chain 1 gene DOID:9002373 Spermatogenic Failure 83 ISO RGD:1319504 D RGD:7240710 20230505 OMIM 11824075 CRHBP corticotropin releasing hormone binding protein gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:730851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 11824075 CRHBP corticotropin releasing hormone binding protein gene DOID:1596 depressive disorder ISO RGD:2403 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, frontal cortex (rat) PMID:19631474|REF_RGD_ID:5508785 11824075 CRHBP corticotropin releasing hormone binding protein gene DOID:1596 depressive disorder ISO RGD:730851 D RGD:9068941 20200609 RGD DNA:snps:intron, 3' utr:g.10661T>C, g.16113T>C (human) PMID:14573312|REF_RGD_ID:1358530 11824075 CRHBP corticotropin releasing hormone binding protein gene DOID:3328 temporal lobe epilepsy ISO RGD:2403 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus (rat) PMID:9037416|REF_RGD_ID:5508845 11824075 CRHBP corticotropin releasing hormone binding protein gene DOID:630 genetic disease ISO RGD:730851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824075 CRHBP corticotropin releasing hormone binding protein gene DOID:684 hepatocellular carcinoma ISO RGD:730851 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11824075 CRHBP corticotropin releasing hormone binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11824075 CRHBP corticotropin releasing hormone binding protein gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730851 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17437087 11824075 CRHBP corticotropin releasing hormone binding protein gene DOID:9970 obesity ISO RGD:2403 D RGD:9068941 20200609 RGD mRNA:decreased expression:anterior pituitary gland (rat) PMID:10600923|REF_RGD_ID:5508840 11824086 TM9SF1 transmembrane 9 superfamily member 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1316066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11824086 TM9SF1 transmembrane 9 superfamily member 1 gene DOID:630 genetic disease ISO RGD:1316066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824086 TM9SF1 transmembrane 9 superfamily member 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1316066 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11824086 TM9SF1 transmembrane 9 superfamily member 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1316066 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11824122 SLC34A3 solute carrier family 34 member 3 gene DOID:0050777 Joubert syndrome ISO RGD:1348656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11824122 SLC34A3 solute carrier family 34 member 3 gene DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria ISO RGD:1348656 D RGD:7240710 20180130 OMIM 11824122 SLC34A3 solute carrier family 34 member 3 gene DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria ISO RGD:1348656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria PMID:16199547|PMID:16358214|PMID:16358215|PMID:16849419|PMID:17576681|PMID:18523928|PMID:18996815|PMID:19820004|PMID:20074341|PMID:21344632|PMID:22159077|PMID:22387237|PMID:24033266|PMID:24176905|PMID:24246249|PMID:25741868|PMID:26399350|PMID:26789268|PMID:28492532|PMID:29505567|PMID:29809158|PMID:2983203|PMID:31440709|PMID:31672324|PMID:33223529|PMID:33226606|PMID:33532864|PMID:9536098 11824122 SLC34A3 solute carrier family 34 member 3 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1348656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 11824122 SLC34A3 solute carrier family 34 member 3 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1348656 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 11824122 SLC34A3 solute carrier family 34 member 3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1348656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11824122 SLC34A3 solute carrier family 34 member 3 gene DOID:0080077 hypophosphatemic nephrolithiasis/osteoporosis 1 ISO RGD:1348656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 PMID:25741868|PMID:28492532|PMID:31672324 11824122 SLC34A3 solute carrier family 34 member 3 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1348656 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11824122 SLC34A3 solute carrier family 34 member 3 gene DOID:0081097 Rafiq syndrome ISO RGD:1348656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11824122 SLC34A3 solute carrier family 34 member 3 gene DOID:1826 epilepsy ISO RGD:1348656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11824122 SLC34A3 solute carrier family 34 member 3 gene DOID:630 genetic disease ISO RGD:1348656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11824122 SLC34A3 solute carrier family 34 member 3 gene DOID:9001738 Hypercalciuria ISO RGD:1348656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercalciuria 11824122 SLC34A3 solute carrier family 34 member 3 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1348656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11824145 CCDC70 coiled-coil domain containing 70 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1603195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11824145 CCDC70 coiled-coil domain containing 70 gene DOID:1059 intellectual disability ISO RGD:1603195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11824145 CCDC70 coiled-coil domain containing 70 gene DOID:630 genetic disease ISO RGD:1603195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824145 CCDC70 coiled-coil domain containing 70 gene DOID:893 Wilson disease ISO RGD:1603195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:28492532 11824152 NAA80 N-alpha-acetyltransferase 80, NatH catalytic subunit gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 11824152 NAA80 N-alpha-acetyltransferase 80, NatH catalytic subunit gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 11824152 NAA80 N-alpha-acetyltransferase 80, NatH catalytic subunit gene DOID:630 genetic disease ISO RGD:1350941 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824152 NAA80 N-alpha-acetyltransferase 80, NatH catalytic subunit gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1350941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11824152 NAA80 N-alpha-acetyltransferase 80, NatH catalytic subunit gene DOID:9562 primary ciliary dyskinesia ISO RGD:1350941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11824165 CCDC6 coiled-coil domain containing 6 gene DOID:10652 Alzheimer's disease ISO RGD:1344180 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33589840 11824165 CCDC6 coiled-coil domain containing 6 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1344180 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 11824165 CCDC6 coiled-coil domain containing 6 gene DOID:630 genetic disease ISO RGD:1344180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824178 HDAC1 histone deacetylase 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1320330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28963909 11824178 HDAC1 histone deacetylase 1 gene DOID:114 heart disease ISO RGD:1320330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18625706 11824178 HDAC1 histone deacetylase 1 gene DOID:12858 Huntington's disease ISO RGD:1320331 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:22965876|REF_RGD_ID:10402189 11824178 HDAC1 histone deacetylase 1 gene DOID:12858 Huntington's disease ISO RGD:1320331 D RGD:9068941 20200609 RGD protein:increased expression:striatum: PMID:22918830|REF_RGD_ID:9590098 11824178 HDAC1 histone deacetylase 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1320330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22711276 11824178 HDAC1 histone deacetylase 1 gene DOID:1686 glaucoma ISO RGD:1309799 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (rat) PMID:28990066|REF_RGD_ID:155630605 11824178 HDAC1 histone deacetylase 1 gene DOID:1686 glaucoma ISO RGD:1320330 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (human) PMID:28990066|REF_RGD_ID:155630605 11824178 HDAC1 histone deacetylase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1320330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21527555 11824178 HDAC1 histone deacetylase 1 gene DOID:2377 multiple sclerosis ISO RGD:1320330 D RGD:9068941 20200609 RGD protein:increased expression:cytoplasm: PMID:20037577|REF_RGD_ID:9590131 11824178 HDAC1 histone deacetylase 1 gene DOID:289 endometriosis ISO RGD:1320330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 11824178 HDAC1 histone deacetylase 1 gene DOID:3213 demyelinating disease ISO RGD:1320331 D RGD:9068941 20200609 RGD protein:increased expression:cytoplasm: PMID:20037577|REF_RGD_ID:9590131 11824178 HDAC1 histone deacetylase 1 gene DOID:3459 breast carcinoma ISO RGD:1320330 D RGD:9068941 20200609 RGD PMID:16172792|REF_RGD_ID:2306216 11824178 HDAC1 histone deacetylase 1 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1320330 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19424621|REF_RGD_ID:9588974 11824178 HDAC1 histone deacetylase 1 gene DOID:630 genetic disease ISO RGD:1320330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824178 HDAC1 histone deacetylase 1 gene DOID:6432 pulmonary hypertension ISO RGD:1309799 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:22711276|REF_RGD_ID:9590133 11824178 HDAC1 histone deacetylase 1 gene DOID:6432 pulmonary hypertension ISO RGD:1320330 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:22711276|REF_RGD_ID:9590133 11824178 HDAC1 histone deacetylase 1 gene DOID:680 tauopathy ISO RGD:1320331 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:22918830|REF_RGD_ID:9590098 11824178 HDAC1 histone deacetylase 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1320330 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:32289289 11824178 HDAC1 histone deacetylase 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:1320330 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:15042618|REF_RGD_ID:2306219 11824178 HDAC1 histone deacetylase 1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1320330 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:19147762|REF_RGD_ID:2306200 11824178 HDAC1 histone deacetylase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1309799 D RGD:9068941 20200609 RGD PMID:18464933|REF_RGD_ID:2311214 11824178 HDAC1 histone deacetylase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1309799 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland: PMID:24717552|REF_RGD_ID:9590296 11824178 HDAC1 histone deacetylase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1309799 D RGD:9068941 20200609 RGD protein:decreased expression, decreased activity:hippocampus: PMID:16380407|REF_RGD_ID:9588242 11824178 HDAC1 histone deacetylase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320330 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:15042618|PMID:18212746|REF_RGD_ID:2306214|REF_RGD_ID:2306219 11824178 HDAC1 histone deacetylase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1320330 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:17387270|REF_RGD_ID:2306215 11824178 HDAC1 histone deacetylase 1 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1320330 D RGD:9068941 20200609 RGD PMID:18714364|REF_RGD_ID:2306205 11824178 HDAC1 histone deacetylase 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1320330 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:19147762|REF_RGD_ID:2306200 11824178 HDAC1 histone deacetylase 1 gene DOID:9004078 Pancreatic Intraepithelial Neoplasia ISO RGD:1320330 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19424621|REF_RGD_ID:9588974 11824178 HDAC1 histone deacetylase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1309799 D RGD:9068941 20200609 RGD protein:increased activity:renal cortex: PMID:19553350|REF_RGD_ID:9590229 11824178 HDAC1 histone deacetylase 1 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1309799 D RGD:9068941 20200609 RGD protein:increased expression:Right Ventricular: PMID:22711276|REF_RGD_ID:9590133 11824178 HDAC1 histone deacetylase 1 gene DOID:9007096 Stroke ISO RGD:1309799 D RGD:9068941 20200609 RGD PMID:24657831|REF_RGD_ID:9590303 11824178 HDAC1 histone deacetylase 1 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:1320330 D RGD:9068941 20200609 RGD PMID:18714364|REF_RGD_ID:2306205 11824178 HDAC1 histone deacetylase 1 gene DOID:9256 colorectal cancer ISO RGD:1320330 D RGD:9068941 20200609 RGD mRNA:increased expression:colon: PMID:23724067|REF_RGD_ID:9590193 11824178 HDAC1 histone deacetylase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1320331 D RGD:9068941 20200609 RGD protein:increased activity:kidney: PMID:19553350|REF_RGD_ID:9590229 11824178 HDAC1 histone deacetylase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1320330 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic beta cell: PMID:22772764|REF_RGD_ID:9590127 11824178 HDAC1 histone deacetylase 1 gene DOID:986 alopecia areata ISO RGD:1320330 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell: PMID:21936853|REF_RGD_ID:9587460 11824178 HDAC1 histone deacetylase 1 gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:1320330 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow,blood: PMID:23948281|REF_RGD_ID:9681454 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:0060496 respiratory allergy ISO RGD:1351854 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:17085522 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:0060500 drug allergy ISO RGD:1351854 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:14616128 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1351854 D RGD:9068941 20200702 RGD PMID:9892814|REF_RGD_ID:7248412 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:10533 viral pneumonia ISO RGD:1351854 D RGD:9068941 20200702 RGD PMID:20644177|REF_RGD_ID:4140459 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:1063 interstitial nephritis ISO RGD:1351854 D RGD:9068941 20200702 RGD PMID:21952467|REF_RGD_ID:7247743 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:1205 allergic disease ISO RGD:1351854 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:12804 mucopolysaccharidosis IV ISO RGD:1351854 D RGD:9068941 20200702 RGD protein:decreased expression:plasma PMID:22176730|REF_RGD_ID:7247741 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:1485 cystic fibrosis ISO RGD:1351854 D RGD:9068941 20200702 RGD protein:increased expression:paranasal sinus PMID:17999785|REF_RGD_ID:4145455 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:2316 brain ischemia ISO RGD:1351854 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:2841 asthma ISO RGD:1351854 D RGD:7240710 20230505 OMIM 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:2841 asthma severity ISO RGD:1351854 D RGD:9068941 20200702 RGD PMID:20704746|REF_RGD_ID:4145387 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:2841 asthma susceptibility ISO RGD:1351854 D RGD:9068941 20230506 RGD DNA:polymorphism: :p.A23T (human) PMID:17845580|REF_RGD_ID:4145457 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:289 endometriosis ISO RGD:1351854 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:30579999 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:2942 bronchiolitis ISO RGD:1351854 D RGD:9068941 20200702 RGD protein:increased expression:nasal mucus PMID:17297249|REF_RGD_ID:4145460 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1351854 D RGD:9068941 20200702 RGD PMID:19925666|REF_RGD_ID:4145389 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:3310 atopic dermatitis ISO RGD:1351854 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:3770 pulmonary fibrosis ISO RGD:1351854 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:16314464|PMID:17620002 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:3770 pulmonary fibrosis ISO RGD:1351854 D RGD:9068941 20200702 RGD PMID:17620002|REF_RGD_ID:4145458 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:4195 hyperglycemia ISO RGD:1351854 D RGD:9068941 20200702 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:urine PMID:20841614|REF_RGD_ID:7248408 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:4195 hyperglycemia treatment ISO RGD:1351854 D RGD:9068941 20200702 RGD associated with Diabetes Mellitus, Type 1 PMID:23893332|REF_RGD_ID:7248413 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:4483 rhinitis ISO RGD:1351854 D RGD:9068941 20200702 RGD associated with Sinusitis;protein:increased expression:paranasal sinus PMID:17999785|REF_RGD_ID:4145455 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:4483 rhinitis severity ISO RGD:1351854 D RGD:9068941 20200702 RGD protein:increased expression:nasal mucus PMID:16120080|REF_RGD_ID:4145411 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:5199 ureteral obstruction ISO RGD:1351854 D RGD:9068941 20200702 RGD PMID:15673311|REF_RGD_ID:7248411 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1351854 D RGD:7240710 20230505 OMIM 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1351854 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:14571188 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:552 pneumonia ISO RGD:1351854 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:630 genetic disease ISO RGD:1351854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:9000386 Polyomavirus Infections ISO RGD:1351854 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:9001371 Eosinophilia ISO RGD:1351854 D RGD:9068941 20200702 RGD associated with Sinusitis PMID:19296494|REF_RGD_ID:4891487 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:9001472 Nasal Polyps ISO RGD:1351854 D RGD:9068941 20200702 RGD mRNA:increased expression:nasal cavity epithelium PMID:10415058|REF_RGD_ID:4145448 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351854 D RGD:9068941 20200702 RGD associated with Diabetes Mellitus, Type 2 PMID:21113841|REF_RGD_ID:5683918 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351854 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:9005372 Inflammation ISO RGD:1351854 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:23707484 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:9007651 Chronic Bronchitis ISO RGD:1351854 D RGD:9068941 20200702 RGD PMID:11991282|REF_RGD_ID:4145442 11824196 CCL11 C-C motif chemokine ligand 11 gene DOID:9675 pulmonary emphysema disease_progression ISO RGD:1351854 D RGD:9068941 20200702 RGD associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:lung PMID:17983873|REF_RGD_ID:4145393 11824203 TNR tenascin R gene DOID:14330 Parkinson's disease ISO RGD:732585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinson disease PMID:26122175|PMID:26595808|PMID:28492532|PMID:33278868 11824203 TNR tenascin R gene DOID:1540 parathyroid carcinoma ISO RGD:732585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11824203 TNR tenascin R gene DOID:3755 antithrombin III deficiency ISO RGD:732585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 11824203 TNR tenascin R gene DOID:630 genetic disease ISO RGD:732585 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26122175|PMID:26595808|PMID:28492532|PMID:32099069|PMID:33278868 11824203 TNR tenascin R gene DOID:9002516 NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS ISO RGD:732585 D RGD:7240710 20220216 OMIM 11824203 TNR tenascin R gene DOID:9002516 NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS ISO RGD:732585 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus | ClinVar Annotator: match by term: Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus PMID:25741868|PMID:28334938|PMID:32099069 11824203 TNR tenascin R gene DOID:9003281 Spontaneous Abortions ISO RGD:732585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11824203 TNR tenascin R gene DOID:9007402 Gliosis ISO RGD:732585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15120744 11824203 TNR tenascin R gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:732585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 11824203 TNR tenascin R gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11824239 REXO4 REX4 homolog, 3'-5' exonuclease gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1314713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 11824239 REXO4 REX4 homolog, 3'-5' exonuclease gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1314713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11824239 REXO4 REX4 homolog, 3'-5' exonuclease gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1314713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11824239 REXO4 REX4 homolog, 3'-5' exonuclease gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1314713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11824239 REXO4 REX4 homolog, 3'-5' exonuclease gene DOID:0081097 Rafiq syndrome ISO RGD:1314713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11824239 REXO4 REX4 homolog, 3'-5' exonuclease gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1314713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11824239 REXO4 REX4 homolog, 3'-5' exonuclease gene DOID:3652 Leigh disease ISO RGD:1314713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11824239 REXO4 REX4 homolog, 3'-5' exonuclease gene DOID:630 genetic disease ISO RGD:1314713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824239 REXO4 REX4 homolog, 3'-5' exonuclease gene DOID:9007479 Habitual Abortions ISO RGD:1314713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent spontaneous abortion 11824257 EIF3G eukaryotic translation initiation factor 3 subunit G gene DOID:630 genetic disease ISO RGD:1316234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824257 EIF3G eukaryotic translation initiation factor 3 subunit G gene DOID:9004136 Cataplexy and Narcolepsy ISO RGD:1316234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataplexy and narcolepsy PMID:25669430 11824272 UBA1 ubiquitin like modifier activating enzyme 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11824272 UBA1 ubiquitin like modifier activating enzyme 1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1604847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 11824272 UBA1 ubiquitin like modifier activating enzyme 1 gene DOID:0080828 VEXAS syndrome ISO RGD:1604847 D RGD:7240710 20201202 OMIM 11824272 UBA1 ubiquitin like modifier activating enzyme 1 gene DOID:0080828 VEXAS syndrome ISO RGD:1604847 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: VEXAS syndrome PMID:25741868|PMID:28492532|PMID:33108101|PMID:33690815|PMID:34048852|PMID:34647982|PMID:34649277|PMID:35793467 11824272 UBA1 ubiquitin like modifier activating enzyme 1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1604847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11824272 UBA1 ubiquitin like modifier activating enzyme 1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1604847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11824272 UBA1 ubiquitin like modifier activating enzyme 1 gene DOID:0111827 X-linked spinal muscular atrophy 2 ISO RGD:1604847 D RGD:7240710 20180130 OMIM 11824272 UBA1 ubiquitin like modifier activating enzyme 1 gene DOID:0111827 X-linked spinal muscular atrophy 2 ISO RGD:1604847 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Infantile-onset X-linked spinal muscular atrophy PMID:16199547|PMID:17576681|PMID:18179898|PMID:20301739|PMID:25075304|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29034082|PMID:32181232|PMID:33108101|PMID:33369814|PMID:33690815|PMID:34048852|PMID:34647982|PMID:34649277|PMID:35793467|PMID:9536098 11824272 UBA1 ubiquitin like modifier activating enzyme 1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1604847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 11824272 UBA1 ubiquitin like modifier activating enzyme 1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1604847 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 11824272 UBA1 ubiquitin like modifier activating enzyme 1 gene DOID:12849 autistic disorder ISO RGD:1604847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11824272 UBA1 ubiquitin like modifier activating enzyme 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1604847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19014429 11824272 UBA1 ubiquitin like modifier activating enzyme 1 gene DOID:630 genetic disease ISO RGD:1604847 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18179898|PMID:20301739|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33108101|PMID:33690815|PMID:34048852|PMID:34647982|PMID:34649277|PMID:35793467|PMID:9536098 11824272 UBA1 ubiquitin like modifier activating enzyme 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11824313 ERICH6 glutamate rich 6 gene DOID:0050579 glycogen storage disease XV ISO RGD:1605578 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 11824313 ERICH6 glutamate rich 6 gene DOID:630 genetic disease ISO RGD:1605578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824331 CTNNB1 catenin beta 1 gene DOID:0001816 angiosarcoma ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:13678655 11824331 CTNNB1 catenin beta 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 11824331 CTNNB1 catenin beta 1 gene DOID:0050535 exudative vitreoretinopathy ISO RGD:1550466 D RGD:9068941 20230511 MouseDO 11824331 CTNNB1 catenin beta 1 gene DOID:0050746 mantle cell lymphoma ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18787224 11824331 CTNNB1 catenin beta 1 gene DOID:0050770 polycystic liver disease ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:28492532 11824331 CTNNB1 catenin beta 1 gene DOID:0050868 hepatocellular adenoma ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147764 11824331 CTNNB1 catenin beta 1 gene DOID:0050902 medulloblastoma ISO RGD:733705 D RGD:7240710 20190315 OMIM 11824331 CTNNB1 catenin beta 1 gene DOID:0050902 medulloblastoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:10027390|PMID:10192393|PMID:10391090|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:23033978|PMID:23265383|PMID:24614104|PMID:25157968|PMID:25326635|PMID:25326669|PMID:25741868|PMID:26350204|PMID:26619011|PMID:26822237|PMID:27959697|PMID:28492532|PMID:28575650|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9927029 11824331 CTNNB1 catenin beta 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1550466 D RGD:9068941 20220825 MouseDO 11824331 CTNNB1 catenin beta 1 gene DOID:0070049 autosomal dominant intellectual developmental disorder 19 ISO RGD:733705 D RGD:7240710 20180130 OMIM 11824331 CTNNB1 catenin beta 1 gene DOID:0070049 autosomal dominant intellectual developmental disorder 19 ISO RGD:733705 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CTNNB1-related syndromic intellectual disability | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS PMID:10966653|PMID:18414213|PMID:23033978|PMID:24033266|PMID:24614104|PMID:24668549|PMID:25326635|PMID:25326637|PMID:25326669|PMID:25741868|PMID:2614104|PMID:26350204|PMID:26502894|PMID:27848944|PMID:27915094|PMID:27959697|PMID:28191889|PMID:28330790|PMID:28333917|PMID:28492532|PMID:28514307|PMID:28575650|PMID:28856709|PMID:32369273|PMID:33004838|PMID:33350591|PMID:33475177|PMID:35099645 11824331 CTNNB1 catenin beta 1 gene DOID:0080264 exudative vitreoretinopathy 7 ISO RGD:733705 D RGD:7240710 20190315 OMIM 11824331 CTNNB1 catenin beta 1 gene DOID:0080264 exudative vitreoretinopathy 7 ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EXUDATIVE VITREORETINOPATHY 7 | ClinVar Annotator: match by term: Exudative vitreoretinopathy 7 PMID:23033978|PMID:24614104|PMID:25326635|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:27959697|PMID:28492532|PMID:28575650 11824331 CTNNB1 catenin beta 1 gene DOID:0080502 GM1 gangliosidosis type 1 ISO RGD:733705 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gangliosidosis, generalized GM1, infantile form PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:28191889|PMID:28492532|PMID:28575650|PMID:33004838 11824331 CTNNB1 catenin beta 1 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 11824331 CTNNB1 catenin beta 1 gene DOID:0111349 hereditary desmoid disease ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation PMID:10398436|PMID:10435629|PMID:10655994|PMID:26619011|PMID:26822237|PMID:9500465|PMID:9927029 11824331 CTNNB1 catenin beta 1 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 | ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant PMID:28492532|PMID:28575650 11824331 CTNNB1 catenin beta 1 gene DOID:0111535 progressive osseous heteroplasia ISO RGD:733705 D RGD:9068941 20200609 RGD protein:increased expression:dermis: PMID:18422975|REF_RGD_ID:9068449 11824331 CTNNB1 catenin beta 1 gene DOID:10283 prostate cancer ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:25157968|PMID:26619011|PMID:9927029 11824331 CTNNB1 catenin beta 1 gene DOID:10488 imperforate anus ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imperforate anus PMID:25741868 11824331 CTNNB1 catenin beta 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:733705 D RGD:9068941 20220421 RGD mRNA:altered expression:stomach, tumor (human) PMID:29069277|REF_RGD_ID:151893464 11824331 CTNNB1 catenin beta 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:733705 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:25741868 11824331 CTNNB1 catenin beta 1 gene DOID:1059 intellectual disability ISO RGD:733705 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28333917|PMID:28492532|PMID:28575650 11824331 CTNNB1 catenin beta 1 gene DOID:10652 Alzheimer's disease ISO RGD:1550466 D RGD:9068941 20200609 RGD protein:decreased expression:nucleus: PMID:11226152|REF_RGD_ID:1302533 11824331 CTNNB1 catenin beta 1 gene DOID:10652 Alzheimer's disease ISO RGD:733705 D RGD:9068941 20200609 RGD protein:increased expression:neuron,cytoplasm: PMID:15781969|REF_RGD_ID:10395258 11824331 CTNNB1 catenin beta 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:70487 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:12610652|REF_RGD_ID:10395276 11824331 CTNNB1 catenin beta 1 gene DOID:11054 urinary bladder cancer ISO RGD:1550466 D RGD:9068941 20220825 MouseDO OMIM:109800 11824331 CTNNB1 catenin beta 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:733705 D RGD:9068941 20200609 RGD PMID:17175927|REF_RGD_ID:2289829 11824331 CTNNB1 catenin beta 1 gene DOID:1107 esophageal carcinoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:10027390|PMID:10192393|PMID:10391090|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210 11824331 CTNNB1 catenin beta 1 gene DOID:11984 hypertrophic cardiomyopathy treatment ISO RGD:1550466 D RGD:9068941 20200609 RGD protein:increased phosphorylation:myocyte: PMID:14993121|REF_RGD_ID:1598718 11824331 CTNNB1 catenin beta 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1550466 D RGD:9068941 20200609 RGD PMID:20376467|REF_RGD_ID:13524857 11824331 CTNNB1 catenin beta 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11824331 CTNNB1 catenin beta 1 gene DOID:1324 lung cancer ISO RGD:733705 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:10027390|PMID:10192393|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:25157968|PMID:26619011|PMID:9065403 11824331 CTNNB1 catenin beta 1 gene DOID:1324 lung cancer treatment ISO RGD:733705 D RGD:9068941 20211210 RGD human cells in mouse model PMID:32051824|REF_RGD_ID:150530284 11824331 CTNNB1 catenin beta 1 gene DOID:14566 disease of cellular proliferation ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:25157968 11824331 CTNNB1 catenin beta 1 gene DOID:1520 colon carcinoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma PMID:10192393|PMID:23033978|PMID:24614104|PMID:25157968|PMID:25326635|PMID:25326669|PMID:25741868|PMID:26350204|PMID:26619011|PMID:26822237|PMID:27959697|PMID:28492532|PMID:28575650|PMID:9065402|PMID:9294210 11824331 CTNNB1 catenin beta 1 gene DOID:1790 malignant mesothelioma ISO RGD:733705 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 11824331 CTNNB1 catenin beta 1 gene DOID:1793 pancreatic cancer ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18223216 11824331 CTNNB1 catenin beta 1 gene DOID:182 calcinosis ISO RGD:733705 D RGD:9068941 20200609 RGD protein:increased expression:dermis: PMID:18422975|REF_RGD_ID:9068449 11824331 CTNNB1 catenin beta 1 gene DOID:1909 melanoma ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10027390|PMID:10192393|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:23265383|PMID:24788118|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9500465|PMID:9927029 11824331 CTNNB1 catenin beta 1 gene DOID:1911 endodermal sinus tumor ISO RGD:733705 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:tumor:high expression in 100%, increased nuclear accumulation in 50-70% of tumors PMID:16822086|REF_RGD_ID:2298800 11824331 CTNNB1 catenin beta 1 gene DOID:1936 atherosclerosis ameliorates ISO RGD:1550466 D RGD:9068941 20230330 RGD PMID:35854140|REF_RGD_ID:242905195 11824331 CTNNB1 catenin beta 1 gene DOID:2043 hepatitis B ISO RGD:733705 D RGD:9068941 20210910 RGD associated with hepatocellular carcinoma;protein:increased expression:liver (human) PMID:25536643|REF_RGD_ID:150429591 11824331 CTNNB1 catenin beta 1 gene DOID:2154 nephroblastoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephroblastoma PMID:10027390|PMID:10435629|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:24788118|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403 11824331 CTNNB1 catenin beta 1 gene DOID:234 colon adenocarcinoma ISO RGD:70487 D RGD:9068941 20200609 RGD DNA:mutation PMID:16886601|REF_RGD_ID:1599637 11824331 CTNNB1 catenin beta 1 gene DOID:2394 ovarian cancer ISO RGD:733705 D RGD:7240710 20190213 OMIM 11824331 CTNNB1 catenin beta 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:10027390|PMID:10192393|PMID:10391090|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:24788118|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9500465|PMID:9927029 11824331 CTNNB1 catenin beta 1 gene DOID:2671 transitional cell carcinoma ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:10027390|PMID:10192393|PMID:10391090|PMID:10435629|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:24788118|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9927029 11824331 CTNNB1 catenin beta 1 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:733705 D RGD:9068941 20200609 RGD PMID:16426728|PMID:17363521|REF_RGD_ID:2289818|REF_RGD_ID:2298486 11824331 CTNNB1 catenin beta 1 gene DOID:289 endometriosis ISO RGD:733705 D RGD:9068941 20210910 RGD protein:increased expression:endometrium, epithelium, stroma (human) PMID:29462326|REF_RGD_ID:150429593 11824331 CTNNB1 catenin beta 1 gene DOID:299 adenocarcinoma ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10965019|PMID:14507667|PMID:15459021 11824331 CTNNB1 catenin beta 1 gene DOID:2999 granulosa cell tumor ISO RGD:1550466 D RGD:9068941 20200609 RGD PMID:16488995|REF_RGD_ID:1643593 11824331 CTNNB1 catenin beta 1 gene DOID:2999 granulosa cell tumor ISO RGD:1550466 D RGD:9068941 20220825 MouseDO 11824331 CTNNB1 catenin beta 1 gene DOID:3121 gallbladder cancer ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gallbladder cancer PMID:10027390|PMID:10435629|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:24788118|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9065403 11824331 CTNNB1 catenin beta 1 gene DOID:3307 teratoma ISO RGD:733705 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:tumor:high expression in 100%, increased nuclear accumulation in 50-70% of tumors PMID:16822086|REF_RGD_ID:2298800 11824331 CTNNB1 catenin beta 1 gene DOID:3322 GM1 gangliosidosis ISO RGD:733705 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GLB1 deficiency PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:28191889|PMID:28492532|PMID:28575650|PMID:33004838 11824331 CTNNB1 catenin beta 1 gene DOID:3457 invasive lobular carcinoma ISO RGD:733705 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:17721269|REF_RGD_ID:2289814 11824331 CTNNB1 catenin beta 1 gene DOID:363 uterine cancer ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:10027390|PMID:10192393|PMID:10391090|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:23265383|PMID:24788118|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9500465|PMID:9927029 11824331 CTNNB1 catenin beta 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:10027390|PMID:10192393|PMID:10391090|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:23265383|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9927029 11824331 CTNNB1 catenin beta 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Esophageal squamous cell carcinoma PMID:25157968|PMID:25741868|PMID:26619011 11824331 CTNNB1 catenin beta 1 gene DOID:3840 craniopharyngioma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniopharyngioma PMID:10192393|PMID:23265383|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9927029 11824331 CTNNB1 catenin beta 1 gene DOID:3905 lung carcinoma disease_progression ISO RGD:70487 D RGD:9068941 20200609 RGD DNA, protein:mutations, increased expression:cytoplasm, nucleus:multiple PMID:17639448|REF_RGD_ID:2289843 11824331 CTNNB1 catenin beta 1 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:733705 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:27498289|REF_RGD_ID:13434929 11824331 CTNNB1 catenin beta 1 gene DOID:3910 lung adenocarcinoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:10027390|PMID:10192393|PMID:10391090|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:23265383|PMID:24788118|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9500465|PMID:9927029 11824331 CTNNB1 catenin beta 1 gene DOID:3948 adrenocortical carcinoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma | ClinVar Annotator: match by term: Adrenocortical carcinoma PMID:10027390|PMID:10192393|PMID:10398436|PMID:10435629|PMID:10655994|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:23265383|PMID:24788118|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9065403|PMID:9500465|PMID:9927029 11824331 CTNNB1 catenin beta 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:733705 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid PMID:28677753|REF_RGD_ID:13792605 11824331 CTNNB1 catenin beta 1 gene DOID:3969 thyroid gland papillary carcinoma disease_progression ISO RGD:733705 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid PMID:29498921|REF_RGD_ID:13792558 11824331 CTNNB1 catenin beta 1 gene DOID:4 disease ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disease PMID:10027390|PMID:10435629|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:24788118|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9065403 11824331 CTNNB1 catenin beta 1 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:10192393|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9294210|PMID:9500465|PMID:9927029 11824331 CTNNB1 catenin beta 1 gene DOID:4450 renal cell carcinoma ISO RGD:733705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:26822237 11824331 CTNNB1 catenin beta 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:733705 D RGD:9068941 20200609 RGD PMID:15330191|REF_RGD_ID:2289794 11824331 CTNNB1 catenin beta 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:733705 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:11831984|REF_RGD_ID:2289835 11824331 CTNNB1 catenin beta 1 gene DOID:5015 fibrolamellar carcinoma ISO RGD:733705 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:exon: PMID:19101982|REF_RGD_ID:14402052 11824331 CTNNB1 catenin beta 1 gene DOID:5082 liver cirrhosis ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21047994 11824331 CTNNB1 catenin beta 1 gene DOID:5374 pilomatrixoma ISO RGD:733705 D RGD:7240710 20180130 OMIM 11824331 CTNNB1 catenin beta 1 gene DOID:5374 pilomatrixoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Calcifying epithelioma of Malherbe | ClinVar Annotator: match by term: Pilomatrixoma PMID:10027390|PMID:10192393|PMID:10391090|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:23033978|PMID:24614104|PMID:25157968|PMID:25326635|PMID:25326669|PMID:25741868|PMID:26350204|PMID:26619011|PMID:26822237|PMID:27959697|PMID:28492532|PMID:28575650|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9927029 11824331 CTNNB1 catenin beta 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:10192393|PMID:23265383|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9927029 11824331 CTNNB1 catenin beta 1 gene DOID:630 genetic disease ISO RGD:733705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21903672|PMID:23033978|PMID:24614104|PMID:24728327|PMID:25326635|PMID:25326669|PMID:25741868|PMID:26350204|PMID:26502894|PMID:27915094|PMID:27959697|PMID:28191889|PMID:28330790|PMID:28492532|PMID:28575650|PMID:28856709|PMID:30640974|PMID:33004838|PMID:33350591 11824331 CTNNB1 catenin beta 1 gene DOID:657 adenoma ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10223192|PMID:10965019 11824331 CTNNB1 catenin beta 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733705 D RGD:7240710 20180130 OMIM 11824331 CTNNB1 catenin beta 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA PMID:10027390|PMID:10192393|PMID:10391090|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:21903672|PMID:23033978|PMID:23265383|PMID:24614104|PMID:24728327|PMID:24788118|PMID:25157968|PMID:25326635|PMID:25326669|PMID:25741868|PMID:26350204|PMID:26502894|PMID:26619011|PMID:26822237|PMID:27915094|PMID:27959697|PMID:28492532|PMID:28575650|PMID:29682453|PMID:30640974|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9500465|PMID:9927029 11824331 CTNNB1 catenin beta 1 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:733705 D RGD:9068941 20210910 RGD DNA:missense mutations:exon 3:multiple (human) PMID:27276713|REF_RGD_ID:150429592 11824331 CTNNB1 catenin beta 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:733705 D RGD:9068941 20200609 RGD DNA:Mutations:exon: PMID:19101982|REF_RGD_ID:14402052 11824331 CTNNB1 catenin beta 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:733705 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic,DNA:SNP, haplotype: :rs3864004 (human) PMID:26968103|REF_RGD_ID:14402039 11824331 CTNNB1 catenin beta 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:733705 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:SNPs: :rs3864004,rs11564475(human) PMID:28328801|REF_RGD_ID:14402040 11824331 CTNNB1 catenin beta 1 gene DOID:687 hepatoblastoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:10192393|PMID:10398436|PMID:10435629|PMID:10655994|PMID:23265383|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9500465|PMID:9927029 11824331 CTNNB1 catenin beta 1 gene DOID:767 muscular atrophy ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18467435 11824331 CTNNB1 catenin beta 1 gene DOID:8719 in situ carcinoma ISO RGD:733705 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:9496256|REF_RGD_ID:2289836 11824331 CTNNB1 catenin beta 1 gene DOID:8923 skin melanoma ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:10027390|PMID:10192393|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:23265383|PMID:24788118|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9500465|PMID:9927029 11824331 CTNNB1 catenin beta 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:733705 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:decreased expression PMID:17908479|REF_RGD_ID:2289813 11824331 CTNNB1 catenin beta 1 gene DOID:9000156 Metaplasia exacerbates ISO RGD:733705 D RGD:9068941 20210910 RGD associated with Helicobacter Infections;protein:increased expression:body stomach, stomach pyloric antrum, nucleus (human) PMID:19369517|REF_RGD_ID:150429594 11824331 CTNNB1 catenin beta 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of stomach PMID:10027390|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:25157968|PMID:26619011|PMID:9065403 11824331 CTNNB1 catenin beta 1 gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747643 11824331 CTNNB1 catenin beta 1 gene DOID:9000784 Fibrosis ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11824331 CTNNB1 catenin beta 1 gene DOID:9000918 Disease Progression ISO RGD:733705 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:27738331|PMID:29106415|PMID:34019859 11824331 CTNNB1 catenin beta 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29106415 11824331 CTNNB1 catenin beta 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733705 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:18008331|REF_RGD_ID:2289488 11824331 CTNNB1 catenin beta 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11280770|PMID:20118494|PMID:21147764 11824331 CTNNB1 catenin beta 1 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11824331 CTNNB1 catenin beta 1 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease PMID:28492532 11824331 CTNNB1 catenin beta 1 gene DOID:9001834 Peritoneal Neoplasms ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 11824331 CTNNB1 catenin beta 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:733705 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35066776 11824331 CTNNB1 catenin beta 1 gene DOID:9002245 Intestinal Neoplasms ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10223192 11824331 CTNNB1 catenin beta 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1550466 D RGD:9068941 20200609 RGD PMID:17638904|REF_RGD_ID:2289815 11824331 CTNNB1 catenin beta 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17363566|PMID:29610475 11824331 CTNNB1 catenin beta 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:70487 D RGD:9068941 20200609 RGD protein:increased expression:cartilage: PMID:22702043|REF_RGD_ID:10395278 11824331 CTNNB1 catenin beta 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:10027390|PMID:10192393|PMID:10391090|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:23033978|PMID:24614104|PMID:25157968|PMID:25326635|PMID:25326669|PMID:25741868|PMID:26350204|PMID:26619011|PMID:26822237|PMID:27959697|PMID:28492532|PMID:28575650|PMID:9065403 11824331 CTNNB1 catenin beta 1 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:733705 D RGD:9068941 20200609 RGD PMID:15381903|REF_RGD_ID:2298487 11824331 CTNNB1 catenin beta 1 gene DOID:9002801 Recurrence ISO RGD:733705 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:34019859 11824331 CTNNB1 catenin beta 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12628520|PMID:12800193|PMID:14507667|PMID:15459021|PMID:17404573|PMID:18283038|PMID:21081470|PMID:22323126|PMID:9515794 11824331 CTNNB1 catenin beta 1 gene DOID:9002955 Nerve Degeneration ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12387456 11824331 CTNNB1 catenin beta 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix PMID:10027390|PMID:10192393|PMID:10391090|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9065403|PMID:9927029 11824331 CTNNB1 catenin beta 1 gene DOID:9003694 Cecal Neoplasms ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14688030 11824331 CTNNB1 catenin beta 1 gene DOID:9004240 Phyllodes Tumor ISO RGD:733705 D RGD:9068941 20200609 RGD protein:increased expression:nucleus PMID:12898599|REF_RGD_ID:2289832 11824331 CTNNB1 catenin beta 1 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:733705 D RGD:9068941 20200609 RGD DNA:mutations PMID:17418409|REF_RGD_ID:2289817 11824331 CTNNB1 catenin beta 1 gene DOID:9004268 Uterine Neoplasms ISO RGD:1550466 D RGD:9068941 20200609 RGD protein:decreased phosphorylation, increased expression:uterus, nucleus PMID:17072826|REF_RGD_ID:2289830 11824331 CTNNB1 catenin beta 1 gene DOID:9004307 Alazami Syndrome ISO RGD:733705 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alazami syndrome PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28333917|PMID:28492532|PMID:28575650 11824331 CTNNB1 catenin beta 1 gene DOID:9004331 Parathyroid Neoplasms ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid gland neoplasm PMID:25157968|PMID:26619011|PMID:26822237 11824331 CTNNB1 catenin beta 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733705 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28333917|PMID:28492532|PMID:28575650 11824331 CTNNB1 catenin beta 1 gene DOID:9004464 Skin Neoplasms ISO RGD:1550466 D RGD:9068941 20200609 RGD protein:increased expression:cytosol: PMID:11517342|REF_RGD_ID:10395257 11824331 CTNNB1 catenin beta 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:733705 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35066776 11824331 CTNNB1 catenin beta 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23707762|PMID:26990689 11824331 CTNNB1 catenin beta 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11824331 CTNNB1 catenin beta 1 gene DOID:9005100 Aberrant Crypt Foci ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10965019|PMID:12351151|PMID:14507667 11824331 CTNNB1 catenin beta 1 gene DOID:9005172 Lung Neoplasms ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18372914 11824331 CTNNB1 catenin beta 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1550466 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.S33Y, p.S45F PMID:18060046|REF_RGD_ID:2289674 11824331 CTNNB1 catenin beta 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1550466 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland PMID:17510243|REF_RGD_ID:2289816 11824331 CTNNB1 catenin beta 1 gene DOID:9005446 Mandibular Neoplasms ISO RGD:70487 D RGD:9068941 20200609 RGD mRNA:increased expression:small intestine PMID:17259108|REF_RGD_ID:1599632 11824331 CTNNB1 catenin beta 1 gene DOID:9005527 No-Reflow Phenomenon ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16824628 11824331 CTNNB1 catenin beta 1 gene DOID:9006205 Animal Disease Models ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11824331 CTNNB1 catenin beta 1 gene DOID:9006332 Vascular Calcification ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23223575 11824331 CTNNB1 catenin beta 1 gene DOID:9006534 Nervous System Malformations ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11824331 CTNNB1 catenin beta 1 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:70487 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:heart PMID:25586361|REF_RGD_ID:13524855 11824331 CTNNB1 catenin beta 1 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:733705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:26822237 11824331 CTNNB1 catenin beta 1 gene DOID:9007096 Stroke ISO RGD:733705 D RGD:9068941 20200609 RGD protein:increased phosphorylation, decreased expression:brain PMID:18241848|REF_RGD_ID:2289837 11824331 CTNNB1 catenin beta 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11824331 CTNNB1 catenin beta 1 gene DOID:9007174 Ventricular Remodeling ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11824331 CTNNB1 catenin beta 1 gene DOID:9007188 Liver Neoplasms ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10467420|PMID:21047994 11824331 CTNNB1 catenin beta 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19679878 11824331 CTNNB1 catenin beta 1 gene DOID:9007502 Brain Neoplasms ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain PMID:25157968|PMID:26619011|PMID:26822237 11824331 CTNNB1 catenin beta 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29626521 11824331 CTNNB1 catenin beta 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22975441 11824331 CTNNB1 catenin beta 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Endometrial neoplasm PMID:10192393|PMID:25157968|PMID:25741868|PMID:26619011|PMID:9065402|PMID:9294210 11824331 CTNNB1 catenin beta 1 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:733705 D RGD:9068941 20200609 RGD PMID:16803534|REF_RGD_ID:2298485 11824331 CTNNB1 catenin beta 1 gene DOID:9008086 Developmental Disabilities ISO RGD:733705 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27848944|PMID:27915094|PMID:28492532|PMID:28575650 11824331 CTNNB1 catenin beta 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:10027390|PMID:10192393|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:24788118|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9500465|PMID:9927029 11824331 CTNNB1 catenin beta 1 gene DOID:9008582 Developmental Disease ISO RGD:733705 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28333917|PMID:28492532|PMID:28575650 11824331 CTNNB1 catenin beta 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11262227 11824331 CTNNB1 catenin beta 1 gene DOID:9008939 Breast Neoplasms ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12165863|PMID:25330770 11824331 CTNNB1 catenin beta 1 gene DOID:9008939 Breast Neoplasms ISO RGD:733705 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:17223851|REF_RGD_ID:2289792 11824331 CTNNB1 catenin beta 1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:733705 D RGD:9068941 20200609 RGD PMID:16707478|REF_RGD_ID:2289831 11824331 CTNNB1 catenin beta 1 gene DOID:9256 colorectal cancer ISO RGD:733705 D RGD:7240710 20200226 OMIM 11824331 CTNNB1 catenin beta 1 gene DOID:9256 colorectal cancer ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:28492532|PMID:28575650 11824331 CTNNB1 catenin beta 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:70487 D RGD:9068941 20200609 RGD protein:increased expression:cytoplasm, nucleus PMID:17893236|REF_RGD_ID:2289840 11824331 CTNNB1 catenin beta 1 gene DOID:9256 colorectal cancer treatment ISO RGD:733705 D RGD:9068941 20220728 RGD Human cells in mouse model PMID:32682784|REF_RGD_ID:153297782 11824364 POT1 protection of telomeres 1 gene DOID:0080014 chromosomal disease ISO RGD:1344340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23502782 11824364 POT1 protection of telomeres 1 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1344340 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:25741868|PMID:28492532 11824364 POT1 protection of telomeres 1 gene DOID:1037 lymphoid leukemia ISO RGD:1344340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23502782|PMID:24292274 11824364 POT1 protection of telomeres 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1344340 D RGD:9068941 20220218 RGD PMID:18425352|REF_RGD_ID:151356939 11824364 POT1 protection of telomeres 1 gene DOID:1324 lung cancer ISO RGD:1344340 D RGD:9068941 20220218 RGD DNA:SNP: : rs10244817 (human) PMID:19285750|REF_RGD_ID:151356947 11824364 POT1 protection of telomeres 1 gene DOID:1324 lung cancer ISO RGD:1344340 D RGD:9068941 20220218 RGD DNA:SNP: :p.V326A (rs75932146) (human) PMID:32514122|REF_RGD_ID:151356948 11824364 POT1 protection of telomeres 1 gene DOID:1324 lung cancer ISO RGD:1344340 D RGD:9068941 20220218 RGD DNA:SNP: :rs116895242 (human) PMID:27459707|REF_RGD_ID:151356949 11824364 POT1 protection of telomeres 1 gene DOID:1909 melanoma ISO RGD:1344340 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:24686849 11824364 POT1 protection of telomeres 1 gene DOID:1949 cholecystitis ISO RGD:1344340 D RGD:9068941 20220218 RGD mRNA:decreased expression:gall bladder PMID:28643740|REF_RGD_ID:151356941 11824364 POT1 protection of telomeres 1 gene DOID:2394 ovarian cancer ISO RGD:1344340 D RGD:9068941 20220218 RGD DNA:SNP: :rs116895242 (human) PMID:27459707|REF_RGD_ID:151356949 11824364 POT1 protection of telomeres 1 gene DOID:3070 high grade glioma ISO RGD:1344340 D RGD:7240710 20230517 OMIM 11824364 POT1 protection of telomeres 1 gene DOID:3070 high grade glioma ISO RGD:1344340 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 9 PMID:24686846|PMID:25482530|PMID:27329137|PMID:28393830|PMID:28393832|PMID:28492532|PMID:29625052|PMID:32907878 11824364 POT1 protection of telomeres 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11824364 POT1 protection of telomeres 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1344340 D RGD:9068941 20220602 RGD associated with hepatitis B;DNA:SNP: :rs7784168(human) PMID:23907815|REF_RGD_ID:152975963 11824364 POT1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:7240710 20230517 OMIM 11824364 POT1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27239034|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30975761|PMID:31919090|PMID:32155570|PMID:33119245|PMID:9536098 11824364 POT1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:32155570|PMID:32325837|PMID:32907878|PMID:33119245|PMID:33216348|PMID:9536098 11824364 POT1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:32155570|PMID:32325837|PMID:32907878|PMID:33119245|PMID:33216348|PMID:34193977|PMID:9536098 11824364 POT1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:34193977|PMID:9536098 11824364 POT1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:34193977|PMID:35727838|PMID:9536098 11824364 POT1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098 11824364 POT1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098 11824364 POT1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098 11824364 POT1 protection of telomeres 1 gene DOID:9000881 Cutaneous Malignant Melanoma, Susceptibility To, 1 ISO RGD:1344340 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 PMID:24686846|PMID:25741868|PMID:28492532|PMID:30451293|PMID:30586141|PMID:34193977 11824364 POT1 protection of telomeres 1 gene DOID:9000987 Cerebroretinal Microangiopathy with Calcifications and Cysts 3 ISO RGD:1344340 D RGD:7240710 20230517 OMIM 11824364 POT1 protection of telomeres 1 gene DOID:9004464 Skin Neoplasms ISO RGD:1344340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24686849 11824364 POT1 protection of telomeres 1 gene DOID:9004814 Chromosome Aberrations ISO RGD:1344340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23502782 11824364 POT1 protection of telomeres 1 gene DOID:9005799 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 8 ISO RGD:1344340 D RGD:7240710 20230517 OMIM 11824364 POT1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:17576681|PMID:19461895|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26467025|PMID:27329137|PMID:27528712|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:32155570|PMID:32907878|PMID:33216348|PMID:9536098 11824364 POT1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:19461895|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:32155570|PMID:32907878|PMID:33119245|PMID:33216348|PMID:34193977|PMID:9536098 11824364 POT1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:34193977|PMID:35727838|PMID:9536098 11824364 POT1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098 11824364 POT1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098 11824364 POT1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098 11824364 POT1 protection of telomeres 1 gene DOID:9256 colorectal cancer ISO RGD:1344340 D RGD:9068941 20220218 RGD DNA:SNP: :rs116895242 (human) PMID:27459707|REF_RGD_ID:151356949 11824364 POT1 protection of telomeres 1 gene DOID:9256 colorectal cancer ISO RGD:1344340 D RGD:9068941 20220218 RGD DNA:SNP: :rs2975843 (human) PMID:32586834|REF_RGD_ID:151356943 11824364 POT1 protection of telomeres 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1344340 D RGD:9068941 20220218 RGD mRNA:increased expression:colorectum PMID:25194444|REF_RGD_ID:151356940 11824404 MTMR11 myotubularin related protein 11 gene DOID:0111940 immunodeficiency 42 ISO RGD:1605703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11824404 MTMR11 myotubularin related protein 11 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11824404 MTMR11 myotubularin related protein 11 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11824404 MTMR11 myotubularin related protein 11 gene DOID:1540 parathyroid carcinoma ISO RGD:1605703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11824404 MTMR11 myotubularin related protein 11 gene DOID:5812 MHC class II deficiency ISO RGD:1605703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11824404 MTMR11 myotubularin related protein 11 gene DOID:630 genetic disease ISO RGD:1605703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824404 MTMR11 myotubularin related protein 11 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11824427 TBC1D32 TBC1 domain family member 32 gene DOID:0050545 visceral heterotaxy ISO RGD:1613911 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 11824427 TBC1D32 TBC1 domain family member 32 gene DOID:0050778 Meckel syndrome ISO RGD:1613911 D RGD:9068941 20220825 MouseDO 11824427 TBC1D32 TBC1 domain family member 32 gene DOID:10907 microcephaly ISO RGD:1345789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11824427 TBC1D32 TBC1 domain family member 32 gene DOID:14679 VACTERL association ISO RGD:1613911 D RGD:9068941 20220825 MouseDO OMIM:192350 | OMIM:276950 11824427 TBC1D32 TBC1 domain family member 32 gene DOID:1826 epilepsy ISO RGD:1345789 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11824427 TBC1D32 TBC1 domain family member 32 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1613911 D RGD:9068941 20220825 MouseDO 11824427 TBC1D32 TBC1 domain family member 32 gene DOID:630 genetic disease ISO RGD:1345789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11824427 TBC1D32 TBC1 domain family member 32 gene DOID:9004641 Oculodentodigital Dysplasia, Autosomal Recessive ISO RGD:1345789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive PMID:28492532 11824466 F11R F11 receptor gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1348345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11824466 F11R F11 receptor gene DOID:10763 hypertension ISO RGD:621842 D RGD:9068941 20200609 RGD PMID:17420334|REF_RGD_ID:7488939 11824466 F11R F11 receptor gene DOID:10763 hypertension susceptibility ISO RGD:1348345 D RGD:9068941 20200609 RGD DNA:SNPs: :rs790056, rs2774276 (human) PMID:18067551|REF_RGD_ID:7488938 11824466 F11R F11 receptor gene DOID:13976 peptic esophagitis treatment ISO RGD:621842 D RGD:9068941 20200609 RGD PMID:19478094|REF_RGD_ID:7488941 11824466 F11R F11 receptor gene DOID:1540 parathyroid carcinoma ISO RGD:1348345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11824466 F11R F11 receptor gene DOID:1612 breast cancer disease_progression ISO RGD:1348345 D RGD:9068941 20200609 RGD PMID:19533747|REF_RGD_ID:7488915 11824466 F11R F11 receptor gene DOID:1936 atherosclerosis ISO RGD:733604 D RGD:9068941 20200609 RGD mRNA:increased expression:carotid artery PMID:15681301|REF_RGD_ID:7488921 11824466 F11R F11 receptor gene DOID:224 transient cerebral ischemia treatment ISO RGD:621842 D RGD:9068941 20200609 RGD PMID:22868201|REF_RGD_ID:7488943 11824466 F11R F11 receptor gene DOID:2773 contact dermatitis ISO RGD:1553576 D RGD:9068941 20200609 RGD PMID:15343392|REF_RGD_ID:7488917 11824466 F11R F11 receptor gene DOID:418 systemic scleroderma ISO RGD:1348345 D RGD:9068941 20200609 RGD PMID:19153103|REF_RGD_ID:7488918 11824466 F11R F11 receptor gene DOID:630 genetic disease ISO RGD:1348345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824466 F11R F11 receptor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1553576 D RGD:9068941 20200609 RGD PMID:21695058|REF_RGD_ID:7488916 11824466 F11R F11 receptor gene DOID:9000564 Prehypertension ISO RGD:621842 D RGD:9068941 20200609 RGD PMID:17420334|REF_RGD_ID:7488939 11824466 F11R F11 receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1348345 D RGD:9068941 20200609 RGD PMID:22120722|REF_RGD_ID:7488922 11824466 F11R F11 receptor gene DOID:9005372 Inflammation ISO RGD:621842 D RGD:9068941 20200609 RGD PMID:17007822|REF_RGD_ID:7488934 11824466 F11R F11 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621842 D RGD:9068941 20200609 RGD PMID:18506084|REF_RGD_ID:7488940 11824466 F11R F11 receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11824480 SHMT2 serine hydroxymethyltransferase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1318437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26482881 11824480 SHMT2 serine hydroxymethyltransferase 2 gene DOID:630 genetic disease ISO RGD:1318437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824480 SHMT2 serine hydroxymethyltransferase 2 gene DOID:6846 familial melanoma ISO RGD:1318437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 11824480 SHMT2 serine hydroxymethyltransferase 2 gene DOID:9001963 NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES ISO RGD:1318437 D RGD:7240710 20210120 OMIM 11824480 SHMT2 serine hydroxymethyltransferase 2 gene DOID:9001963 NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES ISO RGD:1318437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities PMID:25741868|PMID:33015733 11824480 SHMT2 serine hydroxymethyltransferase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33015733 11824507 TOB2 transducer of ERBB2, 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1342508 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11824507 TOB2 transducer of ERBB2, 2 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1342508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 11824507 TOB2 transducer of ERBB2, 2 gene DOID:12306 vitiligo ISO RGD:1342508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 11824507 TOB2 transducer of ERBB2, 2 gene DOID:630 genetic disease ISO RGD:1342508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824517 ELOF1 elongation factor 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1601839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11824517 ELOF1 elongation factor 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1601839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11824517 ELOF1 elongation factor 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1601839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11824517 ELOF1 elongation factor 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1601839 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11824533 SHROOM1 shroom family member 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605292 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11824533 SHROOM1 shroom family member 1 gene DOID:0080600 COVID-19 ISO RGD:1605292 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11824533 SHROOM1 shroom family member 1 gene DOID:630 genetic disease ISO RGD:1605292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824533 SHROOM1 shroom family member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11824533 SHROOM1 shroom family member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605292 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11824547 ALDH1L1 aldehyde dehydrogenase 1 family member L1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606025 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11824547 ALDH1L1 aldehyde dehydrogenase 1 family member L1 gene DOID:13580 cholestasis treatment ISO RGD:621294 D RGD:9068941 20200609 RGD PMID:30223280|REF_RGD_ID:15045612 11824547 ALDH1L1 aldehyde dehydrogenase 1 family member L1 gene DOID:630 genetic disease ISO RGD:1606025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824547 ALDH1L1 aldehyde dehydrogenase 1 family member L1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15650968 11824547 ALDH1L1 aldehyde dehydrogenase 1 family member L1 gene DOID:9002189 High Myopia ISO RGD:1606025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11824547 ALDH1L1 aldehyde dehydrogenase 1 family member L1 gene DOID:9002669 Hypoxia ISO RGD:1606025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 11824547 ALDH1L1 aldehyde dehydrogenase 1 family member L1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1606025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 11824547 ALDH1L1 aldehyde dehydrogenase 1 family member L1 gene DOID:9270 alkaptonuria ISO RGD:1606025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11824547 ALDH1L1 aldehyde dehydrogenase 1 family member L1 gene DOID:9970 obesity ISO RGD:1606025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 11824590 BAZ1A bromodomain adjacent to zinc finger domain 1A gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:1314679 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 PMID:28492532 11824590 BAZ1A bromodomain adjacent to zinc finger domain 1A gene DOID:0111766 X-linked VACTERL association ISO RGD:1314679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations 11824590 BAZ1A bromodomain adjacent to zinc finger domain 1A gene DOID:630 genetic disease ISO RGD:1314679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824590 BAZ1A bromodomain adjacent to zinc finger domain 1A gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1314679 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11824620 LOC100990756 calcium-binding mitochondrial carrier protein SCaMC-1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1607032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11824620 LOC100990756 calcium-binding mitochondrial carrier protein SCaMC-1 gene DOID:12849 autistic disorder ISO RGD:1607032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11824620 LOC100990756 calcium-binding mitochondrial carrier protein SCaMC-1 gene DOID:630 genetic disease ISO RGD:1607032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824620 LOC100990756 calcium-binding mitochondrial carrier protein SCaMC-1 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:1607032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:25741868 11824620 LOC100990756 calcium-binding mitochondrial carrier protein SCaMC-1 gene DOID:9000279 Congenital Progeroid Syndrome, Petty Type ISO RGD:1607032 D RGD:7240710 20190315 OMIM 11824620 LOC100990756 calcium-binding mitochondrial carrier protein SCaMC-1 gene DOID:9000279 Congenital Progeroid Syndrome, Petty Type ISO RGD:1607032 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fontaine progeroid syndrome PMID:10215548|PMID:10594888|PMID:19731360|PMID:21216154|PMID:25741868|PMID:28492532|PMID:29100093|PMID:29100094 11824620 LOC100990756 calcium-binding mitochondrial carrier protein SCaMC-1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1607032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11824634 GCNT1 glucosaminyl (N-acetyl) transferase 1 gene DOID:630 genetic disease ISO RGD:1351431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824634 GCNT1 glucosaminyl (N-acetyl) transferase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11824634 GCNT1 glucosaminyl (N-acetyl) transferase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15882971 11824634 GCNT1 glucosaminyl (N-acetyl) transferase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621370 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:7560067|REF_RGD_ID:632804 11824658 SLC23A3 solute carrier family 23 member 3 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1345783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11824658 SLC23A3 solute carrier family 23 member 3 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1345783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11824658 SLC23A3 solute carrier family 23 member 3 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1345783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11824658 SLC23A3 solute carrier family 23 member 3 gene DOID:1148 polydactyly ISO RGD:1345783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 11824658 SLC23A3 solute carrier family 23 member 3 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1345783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11824658 SLC23A3 solute carrier family 23 member 3 gene DOID:630 genetic disease ISO RGD:1345783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824658 SLC23A3 solute carrier family 23 member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11824681 SLC5A8 solute carrier family 5 member 8 gene DOID:1920 hyperuricemia ISO RGD:1352176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20589576 11824681 SLC5A8 solute carrier family 5 member 8 gene DOID:630 genetic disease ISO RGD:1352176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824681 SLC5A8 solute carrier family 5 member 8 gene DOID:9002928 Colonic Neoplasms ISO RGD:1352176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15090606|PMID:16670197 11824700 EGR4 early growth response 4 gene DOID:0050473 Alstrom syndrome ISO RGD:735817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 11824700 EGR4 early growth response 4 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:735817 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11824700 EGR4 early growth response 4 gene DOID:3525 middle cerebral artery infarction ISO RGD:2546 D RGD:9068941 20200609 RGD PMID:22645329|REF_RGD_ID:10395314 11824700 EGR4 early growth response 4 gene DOID:543 dystonia ISO RGD:735817 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11824700 EGR4 early growth response 4 gene DOID:630 genetic disease ISO RGD:735817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824700 EGR4 early growth response 4 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:735817 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11824723 ZSCAN12 zinc finger and SCAN domain containing 12 gene DOID:11372 megacolon ISO RGD:1346257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11824723 ZSCAN12 zinc finger and SCAN domain containing 12 gene DOID:630 genetic disease ISO RGD:1346257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824807 FXR2 FMR1 autosomal homolog 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1315950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11824807 FXR2 FMR1 autosomal homolog 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1315950 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11824807 FXR2 FMR1 autosomal homolog 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1315950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11824807 FXR2 FMR1 autosomal homolog 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1315950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11824807 FXR2 FMR1 autosomal homolog 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1315950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11824807 FXR2 FMR1 autosomal homolog 2 gene DOID:630 genetic disease ISO RGD:1315950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824827 ITM2B integral membrane protein 2B gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1353059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11824827 ITM2B integral membrane protein 2B gene DOID:0070029 ITM2B-related cerebral amyloid angiopathy 1 ISO RGD:1353059 D RGD:7240710 20180130 OMIM 11824827 ITM2B integral membrane protein 2B gene DOID:0070029 ITM2B-related cerebral amyloid angiopathy 1 ISO RGD:1353059 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Presenile dementia with spastic ataxia PMID:10391242|PMID:21610757|PMID:25741868|PMID:28492532|PMID:31719132 11824827 ITM2B integral membrane protein 2B gene DOID:0070030 ITM2B-related cerebral amyloid angiopathy 2 ISO RGD:1353059 D RGD:7240710 20180130 OMIM 11824827 ITM2B integral membrane protein 2B gene DOID:0070030 ITM2B-related cerebral amyloid angiopathy 2 ISO RGD:1353059 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica PMID:10781099|PMID:25741868|PMID:28492532|PMID:31719132|PMID:5457846 11824827 ITM2B integral membrane protein 2B gene DOID:0080124 mitochondrial DNA depletion syndrome 5 ISO RGD:1353059 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:15877282|PMID:17301081|PMID:26475597|PMID:28492532 11824827 ITM2B integral membrane protein 2B gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1353059 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:25741868 11824827 ITM2B integral membrane protein 2B gene DOID:1059 intellectual disability ISO RGD:1353059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11824827 ITM2B integral membrane protein 2B gene DOID:10763 hypertension ISO RGD:1353059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 11824827 ITM2B integral membrane protein 2B gene DOID:630 genetic disease ISO RGD:1353059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11824827 ITM2B integral membrane protein 2B gene DOID:768 retinoblastoma ISO RGD:1353059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma PMID:12541220|PMID:14722923|PMID:15877282|PMID:17096365|PMID:17301081|PMID:22180099|PMID:26475597|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255 11824827 ITM2B integral membrane protein 2B gene DOID:768 retinoblastoma ISO RGD:1353059 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:12541220|PMID:14722923|PMID:17096365|PMID:22180099|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255 11824827 ITM2B integral membrane protein 2B gene DOID:8725 vascular dementia ISO RGD:1353059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:33268848 11824827 ITM2B integral membrane protein 2B gene DOID:9004745 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES ISO RGD:1353059 D RGD:7240710 20180130 OMIM 11824827 ITM2B integral membrane protein 2B gene DOID:9004745 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES ISO RGD:1353059 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities PMID:24026677|PMID:25741868|PMID:28492532|PMID:31719132 11824827 ITM2B integral membrane protein 2B gene DOID:9246 cerebral amyloid angiopathy ISO RGD:1557698 D RGD:9068941 20220825 MouseDO 11824840 ATXN3L ataxin 3 like gene DOID:0050777 Joubert syndrome ISO RGD:1606478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:27081566|PMID:28492532 11824840 ATXN3L ataxin 3 like gene DOID:1059 intellectual disability ISO RGD:1606478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11824840 ATXN3L ataxin 3 like gene DOID:12849 autistic disorder ISO RGD:1606478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11824840 ATXN3L ataxin 3 like gene DOID:630 genetic disease ISO RGD:1606478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824840 ATXN3L ataxin 3 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11824852 PPP1R2C PPP1R2C family member C gene DOID:12849 autistic disorder ISO RGD:1345869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11824864 TAF15 TATA-box binding protein associated factor 15 gene DOID:3347 osteosarcoma ISO RGD:1320016 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14767549 11824864 TAF15 TATA-box binding protein associated factor 15 gene DOID:3371 chondrosarcoma ISO RGD:1320016 D RGD:9068941 20200609 RGD extraskeletal myxoid chondrosarcomas (EMC) PMID:10602519|REF_RGD_ID:1599281 11824864 TAF15 TATA-box binding protein associated factor 15 gene DOID:4549 extraskeletal myxoid chondrosarcoma ISO RGD:1320016 D RGD:7240710 20180130 OMIM 11824864 TAF15 TATA-box binding protein associated factor 15 gene DOID:630 genetic disease ISO RGD:1320016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824864 TAF15 TATA-box binding protein associated factor 15 gene DOID:9000217 Stomach Neoplasms ISO RGD:1320016 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11824864 TAF15 TATA-box binding protein associated factor 15 gene DOID:9000918 Disease Progression ISO RGD:1320016 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11824884 PRKCA protein kinase C alpha gene DOID:0060074 ductal carcinoma in situ ISO RGD:737062 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:15454252|REF_RGD_ID:2292458 11824884 PRKCA protein kinase C alpha gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:737062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29341352 11824884 PRKCA protein kinase C alpha gene DOID:0080820 occupational asthma ISO RGD:737062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27504716 11824884 PRKCA protein kinase C alpha gene DOID:10286 prostate carcinoma ISO RGD:737062 D RGD:9068941 20200609 RGD PMID:9474241|REF_RGD_ID:2292463 11824884 PRKCA protein kinase C alpha gene DOID:10763 hypertension ISO RGD:3395 D RGD:9068941 20200609 RGD PMID:15792354|REF_RGD_ID:1581271 11824884 PRKCA protein kinase C alpha gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:737062 D RGD:9068941 20200609 RGD protein:altered localization:urinary bladder PMID:15922420|REF_RGD_ID:2298669 11824884 PRKCA protein kinase C alpha gene DOID:11054 urinary bladder cancer severity ISO RGD:737062 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:16008942|REF_RGD_ID:2292455 11824884 PRKCA protein kinase C alpha gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:737062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25006961 11824884 PRKCA protein kinase C alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:737062 D RGD:9068941 20200609 RGD PMID:9918525|REF_RGD_ID:1581274 11824884 PRKCA protein kinase C alpha gene DOID:2316 brain ischemia ISO RGD:3395 D RGD:9068941 20200609 RGD associated with Subarachnoid Hemorrhage;protein:increased phosphorylation:cerebral artery PMID:18032736|REF_RGD_ID:2293301 11824884 PRKCA protein kinase C alpha gene DOID:2394 ovarian cancer ISO RGD:737062 D RGD:9068941 20200609 RGD PMID:10589745|REF_RGD_ID:2298671 11824884 PRKCA protein kinase C alpha gene DOID:2871 endometrial carcinoma ISO RGD:737062 D RGD:9068941 20200609 RGD PMID:11371124|REF_RGD_ID:2292462 11824884 PRKCA protein kinase C alpha gene DOID:3070 high grade glioma ISO RGD:737062 D RGD:9068941 20200609 RGD DNA:gene fusion: : PMID:26671581|REF_RGD_ID:11087038 11824884 PRKCA protein kinase C alpha gene DOID:326 ischemia ISO RGD:3395 D RGD:9068941 20200609 RGD PMID:17700073|REF_RGD_ID:2292478 11824884 PRKCA protein kinase C alpha gene DOID:3774 chordoid glioma ISO RGD:737062 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.1387G>C,p.D463H(human) PMID:29476136|REF_RGD_ID:13782058 11824884 PRKCA protein kinase C alpha gene DOID:4001 ovarian carcinoma severity ISO RGD:737062 D RGD:9068941 20200609 RGD PMID:12888898|REF_RGD_ID:2292460 11824884 PRKCA protein kinase C alpha gene DOID:4552 large cell carcinoma ISO RGD:737062 D RGD:9068941 20200609 RGD PMID:9474241|REF_RGD_ID:2292463 11824884 PRKCA protein kinase C alpha gene DOID:6000 congestive heart failure ISO RGD:3395 D RGD:9068941 20200609 RGD protein:increased expression, increased phosphorylation:heart left ventricle PMID:17556659|REF_RGD_ID:2292480 11824884 PRKCA protein kinase C alpha gene DOID:630 genetic disease ISO RGD:737062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824884 PRKCA protein kinase C alpha gene DOID:9002234 Pituitary Neoplasms ISO RGD:737062 D RGD:9068941 20200609 RGD DNA:point mutation:somatic:D294G PMID:8077302|REF_RGD_ID:1601471 11824884 PRKCA protein kinase C alpha gene DOID:9002245 Intestinal Neoplasms ISO RGD:737062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11983831 11824884 PRKCA protein kinase C alpha gene DOID:9003936 Cardiomegaly ISO RGD:3395 D RGD:9068941 20200609 RGD PMID:15792354|REF_RGD_ID:1581271 11824884 PRKCA protein kinase C alpha gene DOID:9003936 Cardiomegaly ISO RGD:737062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21565836 11824884 PRKCA protein kinase C alpha gene DOID:9004009 Reperfusion Injury ISO RGD:3395 D RGD:9068941 20200609 RGD PMID:17905752|REF_RGD_ID:2292474 11824884 PRKCA protein kinase C alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3395 D RGD:9068941 20200609 RGD PMID:12619877|REF_RGD_ID:1581273 11824884 PRKCA protein kinase C alpha gene DOID:9005274 Polyuria ISO RGD:737062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25006961 11824884 PRKCA protein kinase C alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12198386 11824884 PRKCA protein kinase C alpha gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3395 D RGD:9068941 20200609 RGD PMID:15532718|REF_RGD_ID:1581272 11824884 PRKCA protein kinase C alpha gene DOID:9008939 Breast Neoplasms ISO RGD:737062 D RGD:9068941 20200609 RGD PMID:17965220|PMID:9474241|REF_RGD_ID:2292446|REF_RGD_ID:2292463 11824884 PRKCA protein kinase C alpha gene DOID:9008939 Breast Neoplasms ISO RGD:737062 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:15454252|REF_RGD_ID:2292458 11824905 MYOZ3 myozenin 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318422 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11824905 MYOZ3 myozenin 3 gene DOID:630 genetic disease ISO RGD:1318422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824905 MYOZ3 myozenin 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318422 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11824919 LRCH3 leucine rich repeats and calponin homology domain containing 3 gene DOID:630 genetic disease ISO RGD:1314681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824941 PYDC2 pyrin domain containing 2 gene DOID:5419 schizophrenia ISO RGD:2299013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11824941 PYDC2 pyrin domain containing 2 gene DOID:630 genetic disease ISO RGD:2299013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824944 UPB1 beta-ureidopropionase 1 gene DOID:0014667 disease of metabolism ISO RGD:734439 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18853477 11824944 UPB1 beta-ureidopropionase 1 gene DOID:0050562 West syndrome ISO RGD:734439 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18853477 11824944 UPB1 beta-ureidopropionase 1 gene DOID:10608 celiac disease ISO RGD:734439 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 11824944 UPB1 beta-ureidopropionase 1 gene DOID:12849 autistic disorder ISO RGD:734439 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18853477 11824944 UPB1 beta-ureidopropionase 1 gene DOID:1826 epilepsy ISO RGD:734439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11824944 UPB1 beta-ureidopropionase 1 gene DOID:5419 schizophrenia ISO RGD:734439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11824944 UPB1 beta-ureidopropionase 1 gene DOID:630 genetic disease ISO RGD:734439 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11783491|PMID:15385443|PMID:16199547|PMID:17065070|PMID:22525402|PMID:24526388|PMID:25741868|PMID:28492532|PMID:30608453|PMID:35151535 11824944 UPB1 beta-ureidopropionase 1 gene DOID:9000223 Beta-Ureidopropionase Deficiency ISO RGD:734439 D RGD:7240710 20180130 OMIM 11824944 UPB1 beta-ureidopropionase 1 gene DOID:9000223 Beta-Ureidopropionase Deficiency ISO RGD:734439 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Beta-ureidopropionase deficiency PMID:11783491|PMID:15385443|PMID:16199547|PMID:17065070|PMID:17964839|PMID:22525402|PMID:23238479|PMID:24033266|PMID:24123366|PMID:24526388|PMID:25236466|PMID:25445412|PMID:25638458|PMID:25741868|PMID:27553092|PMID:28492532|PMID:30109123|PMID:30608453|PMID:31180159|PMID:35151535 11824964 MFSD10 major facilitator superfamily domain containing 10 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1604055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 11824964 MFSD10 major facilitator superfamily domain containing 10 gene DOID:1856 cherubism ISO RGD:1604055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11824964 MFSD10 major facilitator superfamily domain containing 10 gene DOID:630 genetic disease ISO RGD:1604055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11824981 TBX2 T-box transcription factor 2 gene DOID:0050777 Joubert syndrome ISO RGD:1322243 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11824981 TBX2 T-box transcription factor 2 gene DOID:0070073 autosomal dominant intellectual developmental disorder 43 ISO RGD:1322243 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 43 PMID:25741868 11824981 TBX2 T-box transcription factor 2 gene DOID:0070345 vertebral anomalies and variable endocrine and T-cell dysfunction ISO RGD:1322243 D RGD:7240710 20190626 OMIM 11824981 TBX2 T-box transcription factor 2 gene DOID:0070345 vertebral anomalies and variable endocrine and T-cell dysfunction ISO RGD:1322243 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Vertebral anomalies and variable endocrine and T-cell dysfunction PMID:25741868|PMID:28492532|PMID:29726930 11824981 TBX2 T-box transcription factor 2 gene DOID:10907 microcephaly ISO RGD:1322243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11824981 TBX2 T-box transcription factor 2 gene DOID:11372 megacolon ISO RGD:1322243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11824981 TBX2 T-box transcription factor 2 gene DOID:3393 coronary artery disease ISO RGD:1322243 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35590109 11824981 TBX2 T-box transcription factor 2 gene DOID:630 genetic disease ISO RGD:1322243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29726930 11824981 TBX2 T-box transcription factor 2 gene DOID:769 neuroblastoma ISO RGD:1322243 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30127528 11824995 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:0050439 Usher syndrome ISO RGD:1318161 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:14740321|PMID:15671307|PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:24154662|PMID:25133751|PMID:25404053|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26338283|PMID:26467025|PMID:26667666|PMID:26969326|PMID:27068579|PMID:27575413|PMID:28041643|PMID:28492532|PMID:29099798|PMID:30029497|PMID:30311386|PMID:30459346|PMID:30976395|PMID:31736247|PMID:32467589|PMID:32581362|PMID:33089500|PMID:33297549 11824995 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:0050439 Usher syndrome ISO RGD:1318161 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:14740321|PMID:15671307|PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:24154662|PMID:25133751|PMID:25404053|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26338283|PMID:26467025|PMID:26667666|PMID:26969326|PMID:27068579|PMID:27575413|PMID:28041643|PMID:28492532|PMID:29099798|PMID:30029497|PMID:30311386|PMID:30459346|PMID:31736247|PMID:32037395|PMID:32467589|PMID:32581362|PMID:33089500|PMID:33297549|PMID:35813073 11824995 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:0050439 Usher syndrome ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:14740321|PMID:15671307|PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:24154662|PMID:25133751|PMID:25404053|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26338283|PMID:26467025|PMID:26667666|PMID:26969326|PMID:27068579|PMID:27575413|PMID:28041643|PMID:28492532|PMID:29099798|PMID:30029497|PMID:30311386|PMID:30459346|PMID:30718709|PMID:31047384|PMID:31736247|PMID:32037395|PMID:32467589|PMID:32581362|PMID:33089500|PMID:33297549|PMID:35813073 11824995 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:0050439 Usher syndrome ISO RGD:1318161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:14740321|PMID:15671307|PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:24154662|PMID:25133751|PMID:25404053|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26338283|PMID:26467025|PMID:26667666|PMID:26969326|PMID:27068579|PMID:27575413|PMID:28041643|PMID:28492532|PMID:29099798|PMID:30029497|PMID:30311386|PMID:30459346|PMID:30718709|PMID:31047384|PMID:31456290|PMID:31736247|PMID:31980526|PMID:32037395|PMID:32420686|PMID:32467589|PMID:32581362|PMID:33089500|PMID:33297549|PMID:35813073 11824995 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:28492532|PMID:28951997|PMID:30303587 11824995 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1318161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 11824995 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318161 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11824995 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:0110826 Usher syndrome type 1 ISO RGD:1318161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:21569298|PMID:24033266|PMID:28492532 11824995 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:0110827 Usher syndrome type 2 ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2 PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:24123792|PMID:25741868|PMID:26226137|PMID:28492532|PMID:29924869|PMID:30245029|PMID:30718709|PMID:31047384|PMID:31456290|PMID:31980526|PMID:32037395|PMID:32467589 11824995 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:0110838 Usher syndrome type 2A ISO RGD:1318161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A 11824995 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:0110839 Usher syndrome type 2C ISO RGD:1318161 D RGD:7240710 20180130 OMIM 11824995 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:0110839 Usher syndrome type 2C ISO RGD:1318161 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic PMID:10234513|PMID:14740321|PMID:15671307|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18854872|PMID:19357116|PMID:19357117|PMID:20440071|PMID:21569298|PMID:21946352|PMID:22135276|PMID:22147658|PMID:22334370|PMID:22952768|PMID:23441107|PMID:23767834|PMID:23934111|PMID:23967202|PMID:24033266|PMID:24123792|PMID:24154662|PMID:24498627|PMID:25133751|PMID:25262649|PMID:25324289|PMID:25333064|PMID:25404053|PMID:25412400|PMID:25468891|PMID:25741868|PMID:25741869|PMID:26164827|PMID:26226137|PMID:26338283|PMID:26467025|PMID:26667666|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27108799|PMID:27460420|PMID:27575413|PMID:27884173|PMID:28041643|PMID:28492532|PMID:29142287|PMID:29261713|PMID:29907799|PMID:30029497|PMID:30180840|PMID:30245029|PMID:30311386|PMID:30718709|PMID:31046701|PMID:31047384|PMID:32037395|PMID:32420686|PMID:32467589|PMID:32707200|PMID:32747562|PMID:32860008|PMID:32962041|PMID:33089500|PMID:33105617|PMID:35802133|PMID:35813073|PMID:36633841|PMID:9536098 11824995 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:0111305 familial febrile seizures 4 ISO RGD:1318161 D RGD:7240710 20180130 OMIM 11824995 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:0111305 familial febrile seizures 4 ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CONVULSIONS, FAMILIAL FEBRILE, 4 | ClinVar Annotator: match by term: Febrile seizures, familial, 4 PMID:12402266|PMID:14740321|PMID:15671307|PMID:16199547|PMID:18414213|PMID:19357117|PMID:22135276|PMID:22147658|PMID:22334370|PMID:24033266|PMID:24498627|PMID:25333064|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26467025|PMID:27575413|PMID:28041643|PMID:28492532|PMID:30180840|PMID:30311386|PMID:30718709|PMID:31047384|PMID:32467589 11824995 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:0111307 familial febrile seizures 1 ISO RGD:1318161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Febrile seizures, familial, 1 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 11824995 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:10584 retinitis pigmentosa ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:25741868|PMID:26226137|PMID:26667666|PMID:28492532|PMID:30029497|PMID:30718709|PMID:32467589 11824995 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:1826 epilepsy ISO RGD:1318161 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:18414213|PMID:24033266|PMID:28492532 11824995 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:22135276|PMID:24033266|PMID:24123792|PMID:28492532|PMID:30245029 11824995 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:3633 beta-mannosidosis ISO RGD:1318161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:28492532|PMID:30311386 11824995 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:630 genetic disease ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 11824995 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:8501 fundus dystrophy ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:23462753|PMID:24033266|PMID:24154662|PMID:25133751|PMID:25404053|PMID:25412400|PMID:25741868|PMID:26226137|PMID:26467025|PMID:26667666|PMID:26969326|PMID:27068579|PMID:27460420|PMID:28041643|PMID:28492532|PMID:30029497|PMID:30311386|PMID:30718709|PMID:31047384|PMID:31456290|PMID:31980526|PMID:32037395|PMID:32467589|PMID:32581362 11824995 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:9001128 Usher Syndrome, Type 2B ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 2B PMID:14740321|PMID:15671307|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:25333064|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26338283|PMID:27460420|PMID:27575413|PMID:28041643|PMID:28492532|PMID:30311386|PMID:30718709|PMID:31047384|PMID:32467589 11824995 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11824995 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:9004538 Hearing Loss ISO RGD:1318161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:25741868|PMID:26226137|PMID:26467025|PMID:26667666|PMID:27460420|PMID:28157192|PMID:28492532|PMID:30029497|PMID:30311386|PMID:30718709|PMID:32467589 11824995 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:9004538 Hearing Loss ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:25741868|PMID:26226137|PMID:26467025|PMID:27460420|PMID:28157192|PMID:28492532|PMID:30311386|PMID:30718709|PMID:31047384|PMID:32467589 11824995 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318161 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11824995 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:9849 Meniere's disease ISO RGD:1318161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 11825093 GTSF1L gametocyte specific factor 1 like gene DOID:2234 focal epilepsy ISO RGD:1314719 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11825093 GTSF1L gametocyte specific factor 1 like gene DOID:630 genetic disease ISO RGD:1314719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11825093 GTSF1L gametocyte specific factor 1 like gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1314719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11825098 COL17A1 collagen type XVII alpha 1 chain gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISO RGD:1322425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type PMID:10636730|PMID:11406649|PMID:12813757|PMID:14614394|PMID:16199547|PMID:16354180|PMID:16473856|PMID:17344927|PMID:17576681|PMID:19340010|PMID:20301304|PMID:21357940|PMID:24033266|PMID:24319098|PMID:24668667|PMID:24814191|PMID:25741868|PMID:25803036|PMID:28492532|PMID:28813618|PMID:9077475|PMID:9204958|PMID:9536098|PMID:9583744 11825098 COL17A1 collagen type XVII alpha 1 chain gene DOID:0070337 epithelial recurrent erosion dystrophy ISO RGD:1322425 D RGD:7240710 20180130 OMIM 11825098 COL17A1 collagen type XVII alpha 1 chain gene DOID:0070337 epithelial recurrent erosion dystrophy ISO RGD:1322425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epithelial recurrent erosion dystrophy PMID:14562173|PMID:19710953|PMID:21466533|PMID:23550562|PMID:24005051|PMID:25676728|PMID:25741868|PMID:26604146|PMID:2663347|PMID:26786512|PMID:27309958|PMID:28492532|PMID:9199555 11825098 COL17A1 collagen type XVII alpha 1 chain gene DOID:3209 junctional epidermolysis bullosa ISO RGD:1322425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa PMID:10398261|PMID:10577906|PMID:11851893|PMID:16473856|PMID:17344927|PMID:20301304|PMID:21357940|PMID:24319098|PMID:25741868|PMID:28492532|PMID:7550320|PMID:9199555|PMID:9740252 11825098 COL17A1 collagen type XVII alpha 1 chain gene DOID:3209 junctional epidermolysis bullosa susceptibility ISO RGD:1322425 D RGD:9068941 20200609 RGD PMID:7550320|REF_RGD_ID:1600884 11825098 COL17A1 collagen type XVII alpha 1 chain gene DOID:630 genetic disease ISO RGD:1322425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11825098 COL17A1 collagen type XVII alpha 1 chain gene DOID:9000413 Junctional Epidermolysis Bullosa 4, Intermediate ISO RGD:1322425 D RGD:7240710 20220608 OMIM 11825098 COL17A1 collagen type XVII alpha 1 chain gene DOID:9000413 Junctional Epidermolysis Bullosa 4, Intermediate ISO RGD:1322425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate PMID:10398261|PMID:10577906|PMID:10636730|PMID:10951237|PMID:11851893|PMID:16199547|PMID:16354180|PMID:16473856|PMID:17344927|PMID:19340010|PMID:20301304|PMID:21357940|PMID:21466533|PMID:23550562|PMID:24005051|PMID:24319098|PMID:25741868|PMID:26604146|PMID:28492532|PMID:7092249|PMID:7550320|PMID:8618019|PMID:9012408|PMID:9077475|PMID:9199555|PMID:9204958|PMID:9457913|PMID:9457914|PMID:9740252 11825098 COL17A1 collagen type XVII alpha 1 chain gene DOID:9002189 High Myopia ISO RGD:1322425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:24814191|PMID:25803036 11825178 ASXL2 ASXL transcriptional regulator 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1312315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11825178 ASXL2 ASXL transcriptional regulator 2 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1312315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 11825178 ASXL2 ASXL transcriptional regulator 2 gene DOID:10908 hydrocephalus ISO RGD:1312315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe hydrocephalus PMID:25741868 11825178 ASXL2 ASXL transcriptional regulator 2 gene DOID:11054 urinary bladder cancer ISO RGD:1312315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121791 11825178 ASXL2 ASXL transcriptional regulator 2 gene DOID:630 genetic disease ISO RGD:1312315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11825178 ASXL2 ASXL transcriptional regulator 2 gene DOID:9003728 Shashi-Pena Syndrome ISO RGD:1312315 D RGD:7240710 20190315 OMIM 11825178 ASXL2 ASXL transcriptional regulator 2 gene DOID:9003728 Shashi-Pena Syndrome ISO RGD:1312315 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Shashi-Pena syndrome PMID:25741868|PMID:27693232|PMID:28492532 11825178 ASXL2 ASXL transcriptional regulator 2 gene DOID:9008582 Developmental Disease ISO RGD:1312315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11825178 ASXL2 ASXL transcriptional regulator 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1312315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27798625 11825199 CSRP1 cysteine and glycine rich protein 1 gene DOID:0080365 endometrial hyperplasia ISO RGD:737489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22248470 11825199 CSRP1 cysteine and glycine rich protein 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:737489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11825199 CSRP1 cysteine and glycine rich protein 1 gene DOID:1540 parathyroid carcinoma ISO RGD:737489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11825199 CSRP1 cysteine and glycine rich protein 1 gene DOID:630 genetic disease ISO RGD:737489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11825199 CSRP1 cysteine and glycine rich protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 11825199 CSRP1 cysteine and glycine rich protein 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:737489 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11825199 CSRP1 cysteine and glycine rich protein 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11825209 PHLDA3 pleckstrin homology like domain family A member 3 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1321441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11825209 PHLDA3 pleckstrin homology like domain family A member 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1321441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11825209 PHLDA3 pleckstrin homology like domain family A member 3 gene DOID:5844 myocardial infarction ISO RGD:1321441 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34351043 11825209 PHLDA3 pleckstrin homology like domain family A member 3 gene DOID:630 genetic disease ISO RGD:1321441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11825209 PHLDA3 pleckstrin homology like domain family A member 3 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1321441 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11825209 PHLDA3 pleckstrin homology like domain family A member 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1321441 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34351043 11825209 PHLDA3 pleckstrin homology like domain family A member 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11825215 CDK20 cyclin dependent kinase 20 gene DOID:1184 nephrotic syndrome ISO RGD:1313116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:29127259 11825215 CDK20 cyclin dependent kinase 20 gene DOID:1574 alcohol use disorder ISO RGD:1313116 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 11825215 CDK20 cyclin dependent kinase 20 gene DOID:1826 epilepsy ISO RGD:1313116 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11825215 CDK20 cyclin dependent kinase 20 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11825215 CDK20 cyclin dependent kinase 20 gene DOID:630 genetic disease ISO RGD:1313116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11825215 CDK20 cyclin dependent kinase 20 gene DOID:9008086 Developmental Disabilities ISO RGD:1313116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:29127259 11825238 CDC37 cell division cycle 37, HSP90 cochaperone gene DOID:630 genetic disease ISO RGD:732258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11825250 CDAN1 codanin 1 gene DOID:0111396 congenital dyserythropoietic anemia type I ISO RGD:1315579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type I PMID:12434312|PMID:12825070|PMID:16098079|PMID:16141353|PMID:16754775|PMID:17576681|PMID:18081704|PMID:18575862|PMID:20301759|PMID:22407294|PMID:23065504|PMID:24196372|PMID:25741868|PMID:25741869|PMID:27432187|PMID:27827297|PMID:28102861|PMID:28132690|PMID:28492532|PMID:28755517|PMID:29031773|PMID:29668551|PMID:29676459|PMID:29901818|PMID:29936674|PMID:30487145|PMID:30836435|PMID:31900952|PMID:32160409|PMID:32518175|PMID:33401150|PMID:33777192|PMID:34782754|PMID:9536098 11825250 CDAN1 codanin 1 gene DOID:0111398 congenital dyserythropoietic anemia type Ia ISO RGD:1315579 D RGD:7240710 20191009 OMIM 11825250 CDAN1 codanin 1 gene DOID:0111398 congenital dyserythropoietic anemia type Ia ISO RGD:1315579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CDA, TYPE Ia | ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE Ia PMID:12434312|PMID:16098079|PMID:17576681|PMID:18081704|PMID:20301759|PMID:24196372|PMID:25741868|PMID:25741869|PMID:26467025|PMID:27432187|PMID:28102861|PMID:28492532|PMID:28755517|PMID:29031773|PMID:29599085|PMID:29676459|PMID:29936674|PMID:30836435|PMID:31900952|PMID:33401150|PMID:34782754|PMID:9536098 11825250 CDAN1 codanin 1 gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:1315579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia 11825250 CDAN1 codanin 1 gene DOID:2717 Bloom syndrome ISO RGD:1315579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11825250 CDAN1 codanin 1 gene DOID:630 genetic disease ISO RGD:1315579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11825250 CDAN1 codanin 1 gene DOID:9256 colorectal cancer ISO RGD:1315579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11825280 ANKRD23 ankyrin repeat domain 23 gene DOID:1059 intellectual disability ISO RGD:1321281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11825280 ANKRD23 ankyrin repeat domain 23 gene DOID:5419 schizophrenia ISO RGD:1321281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11825280 ANKRD23 ankyrin repeat domain 23 gene DOID:6000 congestive heart failure ISO RGD:1321281 D RGD:9068941 20200609 RGD associated with Cardiomyopathy, Congestive PMID:15238456|REF_RGD_ID:2314858 11825280 ANKRD23 ankyrin repeat domain 23 gene DOID:630 genetic disease ISO RGD:1321281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11825280 ANKRD23 ankyrin repeat domain 23 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1310398 D RGD:9068941 20200609 RGD RNA:altered expression:heart, brown adipose tissue, skeletal muscle tissue PMID:12456686|REF_RGD_ID:2314859 11825280 ANKRD23 ankyrin repeat domain 23 gene DOID:9775 diastolic heart failure ISO RGD:1321281 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 11825293 SMYD1 SET and MYND domain containing 1 gene DOID:630 genetic disease ISO RGD:1312941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11825310 INHBC inhibin subunit beta C gene DOID:630 genetic disease ISO RGD:733811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11825310 INHBC inhibin subunit beta C gene DOID:6846 familial melanoma ISO RGD:733811 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 11825310 INHBC inhibin subunit beta C gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733811 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11825316 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:0050855 renal fibrosis ISO RGD:1354467 D RGD:9068941 20200609 RGD PMID:22260463|REF_RGD_ID:7243130 11825316 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1354467 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11825316 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:1059 intellectual disability ISO RGD:1354467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11825316 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:10591 pre-eclampsia ISO RGD:1354467 D RGD:9068941 20200609 RGD mRNA:increased expression:placenta, decidua PMID:23155181|REF_RGD_ID:7243127 11825316 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:10591 pre-eclampsia ISO RGD:620007 D RGD:9068941 20200609 RGD PMID:23155181|REF_RGD_ID:7243127 11825316 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:1073 renal hypertension ISO RGD:1354467 D RGD:9068941 20200609 RGD PMID:20495177|REF_RGD_ID:7243143 11825316 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:1073 renal hypertension ISO RGD:620007 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:10779386|REF_RGD_ID:1625381 11825316 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:10763 hypertension ISO RGD:1354467 D RGD:9068941 20200609 RGD PMID:20501636|REF_RGD_ID:7243136 11825316 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:10763 hypertension susceptibility ISO RGD:1354467 D RGD:9068941 20200609 RGD DNA:SNP PMID:17286575|REF_RGD_ID:1625379 11825316 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:10952 nephritis ISO RGD:620007 D RGD:9068941 20200609 RGD PMID:25840911|REF_RGD_ID:12904676 11825316 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1354467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 11825316 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:5199 ureteral obstruction ISO RGD:620007 D RGD:9068941 20200609 RGD PMID:25840911|REF_RGD_ID:12904676 11825316 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1354467 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:17126841|REF_RGD_ID:1625380 11825316 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:630 genetic disease ISO RGD:1354467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11825316 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:6432 pulmonary hypertension ISO RGD:1354467 D RGD:9068941 20200609 RGD PMID:20118222|REF_RGD_ID:7243137 11825316 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:874 bacterial pneumonia ISO RGD:620007 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:14766666|REF_RGD_ID:1625385 11825316 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:9000528 Coronary Disease resistance ISO RGD:1354467 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-50G>T (human) PMID:17429317|REF_RGD_ID:1625377 11825316 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1354467 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; PMID:21742052|REF_RGD_ID:7243153 11825316 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:9004484 Sepsis ISO RGD:620007 D RGD:9068941 20200609 RGD PMID:15190971|REF_RGD_ID:1625384 11825343 AMER1 APC membrane recruitment protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11825343 AMER1 APC membrane recruitment protein 1 gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1606716 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:25741868 11825343 AMER1 APC membrane recruitment protein 1 gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1606716 D RGD:7240710 20180130 OMIM 11825343 AMER1 APC membrane recruitment protein 1 gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1606716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:20950377|PMID:22043478|PMID:22716240|PMID:24033266|PMID:24728327|PMID:25741868|PMID:27369646|PMID:28492532|PMID:8723089|PMID:9327263|PMID:9383023 11825343 AMER1 APC membrane recruitment protein 1 gene DOID:0080215 developmental and epileptic encephalopathy 8 ISO RGD:1606716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 PMID:28492532 11825343 AMER1 APC membrane recruitment protein 1 gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:1606716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked PMID:26242992|PMID:28492532 11825343 AMER1 APC membrane recruitment protein 1 gene DOID:12849 autistic disorder ISO RGD:1606716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11825343 AMER1 APC membrane recruitment protein 1 gene DOID:2154 nephroblastoma ISO RGD:1606716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 11825343 AMER1 APC membrane recruitment protein 1 gene DOID:630 genetic disease ISO RGD:1606716 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19079258|PMID:20209645|PMID:24728327|PMID:25741868|PMID:28492532 11825343 AMER1 APC membrane recruitment protein 1 gene DOID:674 cleft palate ISO RGD:1606716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:25741868 11825343 AMER1 APC membrane recruitment protein 1 gene DOID:9008945 Gram-Negative Bacterial Infections ISO RGD:1606716 D RGD:9068941 20220317 RGD associated with colorectal cancer;DNA:mutation:multiple (human) PMID:30062471|REF_RGD_ID:151665182 11825343 AMER1 APC membrane recruitment protein 1 gene DOID:9256 colorectal cancer ISO RGD:1606716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 11825343 AMER1 APC membrane recruitment protein 1 gene DOID:9256 colorectal cancer ISO RGD:1606716 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:34549727|PMID:34771502 11825343 AMER1 APC membrane recruitment protein 1 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1606716 D RGD:9068941 20220317 RGD protein:decreased expression:colonic mucosa (human) PMID:30631060|REF_RGD_ID:151665181 11825343 AMER1 APC membrane recruitment protein 1 gene DOID:9256 colorectal cancer onset ISO RGD:1606716 D RGD:9068941 20220317 RGD DNA:mutations: (human) PMID:31243121|REF_RGD_ID:151665183 11825349 MYO5B myosin VB gene DOID:0060775 microvillus inclusion disease ISO RGD:736652 D RGD:7240710 20180130 OMIM 11825349 MYO5B myosin VB gene DOID:0060775 microvillus inclusion disease ISO RGD:736652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital microvillous atrophy | ClinVar Annotator: match by term: Diarrhea with Microvillus Atrophy PMID:16199547|PMID:17576681|PMID:18724368|PMID:19006234|PMID:20186687|PMID:21206382|PMID:21282656|PMID:24014347|PMID:24033266|PMID:25111220|PMID:25741868|PMID:26553929|PMID:27242896|PMID:27532546|PMID:28027573|PMID:28492532|PMID:28899465|PMID:29266534|PMID:32304554|PMID:32888943|PMID:33525641|PMID:9536098 11825349 MYO5B myosin VB gene DOID:1059 intellectual disability ISO RGD:736652 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11825349 MYO5B myosin VB gene DOID:13250 diarrhea ISO RGD:736652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18724368 11825349 MYO5B myosin VB gene DOID:5295 intestinal disease ISO RGD:736652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18724368 11825349 MYO5B myosin VB gene DOID:630 genetic disease ISO RGD:736652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11825349 MYO5B myosin VB gene DOID:655 inherited metabolic disorder ISO RGD:736652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18724368 11825349 MYO5B myosin VB gene DOID:670 amphetamine abuse ISO RGD:736652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11825349 MYO5B myosin VB gene DOID:9003622 Progressive Familial Intrahepatic Cholestasis 10 ISO RGD:736652 D RGD:7240710 20220518 OMIM 11825349 MYO5B myosin VB gene DOID:9003622 Progressive Familial Intrahepatic Cholestasis 10 ISO RGD:736652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 10 PMID:18724368|PMID:20186687|PMID:25741868|PMID:27532546|PMID:28027573|PMID:28492532|PMID:32304554|PMID:33525641 11825349 MYO5B myosin VB gene DOID:9007188 Liver Neoplasms ISO RGD:736652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 11825393 PARP15 poly(ADP-ribose) polymerase family member 15 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1353381 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 11825393 PARP15 poly(ADP-ribose) polymerase family member 15 gene DOID:1936 atherosclerosis ISO RGD:1353381 D RGD:9068941 20230128 RGD associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) PMID:33381146|REF_RGD_ID:155882464 11825393 PARP15 poly(ADP-ribose) polymerase family member 15 gene DOID:630 genetic disease ISO RGD:1353381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11825393 PARP15 poly(ADP-ribose) polymerase family member 15 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1353381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 11825393 PARP15 poly(ADP-ribose) polymerase family member 15 gene DOID:9270 alkaptonuria ISO RGD:1353381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11825414 MADD MAP kinase activating death domain gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:732838 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type PMID:25741868|PMID:32761064 11825414 MADD MAP kinase activating death domain gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:732838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11825414 MADD MAP kinase activating death domain gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:732838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 11825414 MADD MAP kinase activating death domain gene DOID:1059 intellectual disability ISO RGD:732838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11825414 MADD MAP kinase activating death domain gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732838 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 11825414 MADD MAP kinase activating death domain gene DOID:224 transient cerebral ischemia ISO RGD:619922 D RGD:9068941 20200609 RGD PMID:12625816|REF_RGD_ID:9588641 11825414 MADD MAP kinase activating death domain gene DOID:630 genetic disease ISO RGD:732838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28118382 11825414 MADD MAP kinase activating death domain gene DOID:9003974 DEEAH Syndrome ISO RGD:732838 D RGD:7240710 20201118 OMIM 11825414 MADD MAP kinase activating death domain gene DOID:9003974 DEEAH Syndrome ISO RGD:732838 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deeah syndrome PMID:25741868|PMID:28492532|PMID:32761064 11825414 MADD MAP kinase activating death domain gene DOID:9004709 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA ISO RGD:732838 D RGD:7240710 20201216 OMIM 11825414 MADD MAP kinase activating death domain gene DOID:9004709 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA ISO RGD:732838 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia PMID:25741868|PMID:28940097|PMID:29302074|PMID:32761064 11825414 MADD MAP kinase activating death domain gene DOID:9352 type 2 diabetes mellitus ISO RGD:737590 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 11825454 HINT3 histidine triad nucleotide binding protein 3 gene DOID:630 genetic disease ISO RGD:1347010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11825463 SESN2 sestrin 2 gene DOID:630 genetic disease ISO RGD:1346813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11825463 SESN2 sestrin 2 gene DOID:9005369 Hepatomegaly ISO RGD:1346813 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28209544 11825463 SESN2 sestrin 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346813 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28209544 11825463 SESN2 sestrin 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1346813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31054940 11825480 SLC20A2 solute carrier family 20 member 2 gene DOID:0060230 basal ganglia calcification ISO RGD:736588 D RGD:9068941 20220825 MouseDO OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 11825480 SLC20A2 solute carrier family 20 member 2 gene DOID:0090039 torsion dystonia 6 ISO RGD:733735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 11825480 SLC20A2 solute carrier family 20 member 2 gene DOID:0111959 immunodeficiency 15B ISO RGD:733735 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 11825480 SLC20A2 solute carrier family 20 member 2 gene DOID:182 calcinosis ISO RGD:733735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25938945 11825480 SLC20A2 solute carrier family 20 member 2 gene DOID:630 genetic disease ISO RGD:733735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11825480 SLC20A2 solute carrier family 20 member 2 gene DOID:679 basal ganglia disease ISO RGD:733735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25938945 11825480 SLC20A2 solute carrier family 20 member 2 gene DOID:8725 vascular dementia ISO RGD:733735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 11825480 SLC20A2 solute carrier family 20 member 2 gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:733735 D RGD:7240710 20180130 OMIM 11825480 SLC20A2 solute carrier family 20 member 2 gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:733735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:20301594|PMID:22327515|PMID:23334463|PMID:23437308|PMID:24209445|PMID:25178512|PMID:25284758|PMID:25741868|PMID:26475232|PMID:27726124|PMID:27943094|PMID:28391956|PMID:28477710|PMID:28492532|PMID:30609140|PMID:31618668|PMID:32705272|PMID:34732400 11825480 SLC20A2 solute carrier family 20 member 2 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:733735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 11825497 GON4L gon-4 like gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11825497 GON4L gon-4 like gene DOID:0060586 Noonan syndrome 8 ISO RGD:1606548 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532|PMID:30684668|PMID:31463572 11825497 GON4L gon-4 like gene DOID:0111940 immunodeficiency 42 ISO RGD:1606548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11825497 GON4L gon-4 like gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11825497 GON4L gon-4 like gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606548 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11825497 GON4L gon-4 like gene DOID:1059 intellectual disability ISO RGD:1606548 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11825497 GON4L gon-4 like gene DOID:1540 parathyroid carcinoma ISO RGD:1606548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11825497 GON4L gon-4 like gene DOID:3070 high grade glioma ISO RGD:1606548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11825497 GON4L gon-4 like gene DOID:5812 MHC class II deficiency ISO RGD:1606548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11825497 GON4L gon-4 like gene DOID:8850 salivary gland cancer ISO RGD:2312710 D RGD:9068941 20220825 MouseDO 11825497 GON4L gon-4 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11825534 SSPN sarcospan gene DOID:0060224 atrial fibrillation ISO RGD:1347504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11825534 SSPN sarcospan gene DOID:630 genetic disease ISO RGD:1347504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11825534 SSPN sarcospan gene DOID:9007173 Familial Natural Short Sleep 1 ISO RGD:1347504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short sleep, familial natural, 1 PMID:19679812|PMID:25083013 11825541 NKRF NFKB repressing factor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11825541 NKRF NFKB repressing factor gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1343355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 11825541 NKRF NFKB repressing factor gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1343355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 11825541 NKRF NFKB repressing factor gene DOID:12849 autistic disorder ISO RGD:1343355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11825541 NKRF NFKB repressing factor gene DOID:630 genetic disease ISO RGD:1343355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11825548 PPP1R17 protein phosphatase 1 regulatory subunit 17 gene DOID:13810 familial hypercholesterolemia ISO RGD:1344493 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 11825548 PPP1R17 protein phosphatase 1 regulatory subunit 17 gene DOID:13810 familial hypercholesterolemia susceptibility ISO RGD:1344493 D RGD:7240710 20230505 OMIM 11825548 PPP1R17 protein phosphatase 1 regulatory subunit 17 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11825548 PPP1R17 protein phosphatase 1 regulatory subunit 17 gene DOID:630 genetic disease ISO RGD:1344493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11825548 PPP1R17 protein phosphatase 1 regulatory subunit 17 gene DOID:9000808 Hypercholesterolemia ISO RGD:1344493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, susceptibility to PMID:12955585 11825557 LMNTD1 lamin tail domain containing 1 gene DOID:630 genetic disease ISO RGD:1602644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11825557 LMNTD1 lamin tail domain containing 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1602644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15064703 11825589 PTCHD1 patched domain containing 1 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1352131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability 11825589 PTCHD1 patched domain containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1352131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11825589 PTCHD1 patched domain containing 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11825589 PTCHD1 patched domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1352131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11825589 PTCHD1 patched domain containing 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1615725 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 11825589 PTCHD1 patched domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1352131 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 4 PMID:20844286|PMID:21114665|PMID:21681106|PMID:23871722|PMID:25131214|PMID:25741868|PMID:26539891|PMID:30208311 11825589 PTCHD1 patched domain containing 1 gene DOID:12849 autistic disorder susceptibility ISO RGD:1352131 D RGD:7240710 20190502 OMIM 11825589 PTCHD1 patched domain containing 1 gene DOID:13938 amenorrhea ISO RGD:1352131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11825589 PTCHD1 patched domain containing 1 gene DOID:630 genetic disease ISO RGD:1352131 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20844286|PMID:21114665|PMID:23871722|PMID:25741868|PMID:25782667|PMID:27007844|PMID:28492532|PMID:29118110|PMID:30166346 11825589 PTCHD1 patched domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11825589 PTCHD1 patched domain containing 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1352131 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21091464 11825589 PTCHD1 patched domain containing 1 gene DOID:9008582 Developmental Disease ISO RGD:1352131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11825596 NEK7 NIMA related kinase 7 gene DOID:1540 parathyroid carcinoma ISO RGD:1322471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11825596 NEK7 NIMA related kinase 7 gene DOID:630 genetic disease ISO RGD:1322471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11825596 NEK7 NIMA related kinase 7 gene DOID:9004657 Weight Gain ISO RGD:1322471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11825596 NEK7 NIMA related kinase 7 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11825616 SLC6A17 solute carrier family 6 member 17 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1603474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 11825616 SLC6A17 solute carrier family 6 member 17 gene DOID:0081212 autosomal recessive intellectual developmental disorder 48 ISO RGD:1603474 D RGD:7240710 20180130 OMIM 11825616 SLC6A17 solute carrier family 6 member 17 gene DOID:0081212 autosomal recessive intellectual developmental disorder 48 ISO RGD:1603474 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome PMID:25704603|PMID:25741868|PMID:28492532 11825616 SLC6A17 solute carrier family 6 member 17 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1603474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11825616 SLC6A17 solute carrier family 6 member 17 gene DOID:12849 autistic disorder ISO RGD:1603474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11825616 SLC6A17 solute carrier family 6 member 17 gene DOID:2843 long QT syndrome ISO RGD:1603474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11825616 SLC6A17 solute carrier family 6 member 17 gene DOID:630 genetic disease ISO RGD:1603474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11825692 ANKRD16 ankyrin repeat domain 16 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1322851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11825692 ANKRD16 ankyrin repeat domain 16 gene DOID:5419 schizophrenia ISO RGD:1322851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11825692 ANKRD16 ankyrin repeat domain 16 gene DOID:630 genetic disease ISO RGD:1322851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11825722 CPNE5 copine 5 gene DOID:0050553 JMP syndrome ISO RGD:1317548 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11825722 CPNE5 copine 5 gene DOID:630 genetic disease ISO RGD:1317548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11825751 ZDHHC12 zinc finger DHHC-type palmitoyltransferase 12 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1315298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11825751 ZDHHC12 zinc finger DHHC-type palmitoyltransferase 12 gene DOID:630 genetic disease ISO RGD:1315298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11825765 TRAF3IP3 TRAF3 interacting protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1604284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11825765 TRAF3IP3 TRAF3 interacting protein 3 gene DOID:630 genetic disease ISO RGD:1604284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11825765 TRAF3IP3 TRAF3 interacting protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11825798 LYPD2 LY6/PLAUR domain containing 2 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1352251 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 11825798 LYPD2 LY6/PLAUR domain containing 2 gene DOID:4621 holoprosencephaly ISO RGD:1352251 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11825798 LYPD2 LY6/PLAUR domain containing 2 gene DOID:630 genetic disease ISO RGD:1352251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11825805 STRN striatin gene DOID:630 genetic disease ISO RGD:736385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11825805 STRN striatin gene DOID:9000998 Brain Injuries ISO RGD:3782 D RGD:9068941 20200609 RGD PMID:16351572|REF_RGD_ID:2311293 11825830 TMEM252 transmembrane protein 252 gene DOID:630 genetic disease ISO RGD:1353835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11825836 VIT vitrin gene DOID:630 genetic disease ISO RGD:1353199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11825856 MRPS9 mitochondrial ribosomal protein S9 gene DOID:630 genetic disease ISO RGD:1315244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11825877 TH tyrosine hydroxylase gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:733897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:11921414|PMID:12610512|PMID:18162506|PMID:18171712|PMID:22572540|PMID:24275212|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:30455893|PMID:30456822|PMID:33206859|PMID:35083481 11825877 TH tyrosine hydroxylase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11825877 TH tyrosine hydroxylase gene DOID:0050771 pheochromocytoma ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22569243 11825877 TH tyrosine hydroxylase gene DOID:0050835 generalized dystonia ISO RGD:733897 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Generalized dystonia PMID:22572540|PMID:24275212|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30455893|PMID:35083481 11825877 TH tyrosine hydroxylase gene DOID:0060001 withdrawal disorder ISO RGD:3853 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:brainstem (rat) PMID:20973778|REF_RGD_ID:5128830 11825877 TH tyrosine hydroxylase gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:733897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:11921414|PMID:12610512|PMID:18162506|PMID:18171712|PMID:22572540|PMID:24275212|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:30455893|PMID:30456822|PMID:33206859|PMID:35083481 11825877 TH tyrosine hydroxylase gene DOID:0080773 delta beta-thalassemia ISO RGD:733897 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11825877 TH tyrosine hydroxylase gene DOID:0080855 Parkinsonism ISO RGD:3853 D RGD:9068941 20200609 RGD protein:decreased expression:striatum PMID:20561938|REF_RGD_ID:13524532 11825877 TH tyrosine hydroxylase gene DOID:0080855 Parkinsonism ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11246459|PMID:8817341 11825877 TH tyrosine hydroxylase gene DOID:0080855 Parkinsonism susceptibility ISO RGD:733897 D RGD:9068941 20200609 RGD Segawa syndrome,autosomal recessive, OMIM:605407;DNA:missense mutation:exon:p.Q381L PMID:7814018|REF_RGD_ID:1601634 11825877 TH tyrosine hydroxylase gene DOID:0090043 dystonia 5 ISO RGD:733897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia 5 PMID:18554280|PMID:20056467|PMID:24753243|PMID:25741868|PMID:28087438|PMID:28492532|PMID:29405179|PMID:32185155 11825877 TH tyrosine hydroxylase gene DOID:0110741 type 1 diabetes mellitus 2 ISO RGD:733897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 PMID:18162506|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30456822 11825877 TH tyrosine hydroxylase gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:733897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25741868|PMID:26467025|PMID:28492532|PMID:30456822 11825877 TH tyrosine hydroxylase gene DOID:0111108 maturity-onset diabetes of the young type 10 ISO RGD:733897 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 10 PMID:12610512|PMID:18162506|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30456822|PMID:33206859 11825877 TH tyrosine hydroxylase gene DOID:0111969 immunodeficiency 39 ISO RGD:733897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11825877 TH tyrosine hydroxylase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11825877 TH tyrosine hydroxylase gene DOID:1059 intellectual disability ISO RGD:11414 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:cerebral cortex (mouse) PMID:18823370|REF_RGD_ID:2311578 11825877 TH tyrosine hydroxylase gene DOID:1059 intellectual disability ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11825877 TH tyrosine hydroxylase gene DOID:10762 portal hypertension ISO RGD:3853 D RGD:9068941 20200609 RGD mRNA:decreased expression:superior mesenteric artery (rat) PMID:19968782|REF_RGD_ID:5129480 11825877 TH tyrosine hydroxylase gene DOID:10763 hypertension ISO RGD:3853 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:16650497|REF_RGD_ID:1601630 11825877 TH tyrosine hydroxylase gene DOID:10763 hypertension ISO RGD:733897 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:27659729|PMID:32147540|PMID:32165127 11825877 TH tyrosine hydroxylase gene DOID:10763 hypertension susceptibility ISO RGD:733897 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:g.1090T>C rs2070762 (human) PMID:16636198|REF_RGD_ID:1601631 11825877 TH tyrosine hydroxylase gene DOID:10825 essential hypertension ISO RGD:733897 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 11825877 TH tyrosine hydroxylase gene DOID:114 heart disease ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9822156 11825877 TH tyrosine hydroxylase gene DOID:11612 polycystic ovary syndrome ISO RGD:3853 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:ovary PMID:15795180|REF_RGD_ID:5508374 11825877 TH tyrosine hydroxylase gene DOID:11717 neonatal diabetes ISO RGD:733897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal diabetes mellitus PMID:25741868 11825877 TH tyrosine hydroxylase gene DOID:12217 Lewy body dementia ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30236862 11825877 TH tyrosine hydroxylase gene DOID:12700 hyperprolactinemia ISO RGD:3853 D RGD:9068941 20200609 RGD protein:increased tyrosine nitration:hypothalamus, median eminence (rat) PMID:21178126|REF_RGD_ID:5128768 11825877 TH tyrosine hydroxylase gene DOID:12700 hyperprolactinemia treatment ISO RGD:3853 D RGD:9068941 20200609 RGD PMID:26297122|REF_RGD_ID:13506955 11825877 TH tyrosine hydroxylase gene DOID:14330 Parkinson's disease ISO RGD:11414 D RGD:9068941 20200609 RGD protein:decreased expression:substantia nigra (mouse) PMID:21323909|REF_RGD_ID:5128616 11825877 TH tyrosine hydroxylase gene DOID:14330 Parkinson's disease ISO RGD:3853 D RGD:9068941 20200609 RGD PMID:2573072|REF_RGD_ID:5129120 11825877 TH tyrosine hydroxylase gene DOID:14330 Parkinson's disease ISO RGD:3853 D RGD:9068941 20200609 RGD protein:decreased expression:midbrain, neuron (rat) PMID:21376343|REF_RGD_ID:5128607 11825877 TH tyrosine hydroxylase gene DOID:14330 Parkinson's disease ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30236862 11825877 TH tyrosine hydroxylase gene DOID:14330 Parkinson's disease ISO RGD:733897 D RGD:9068941 20200609 RGD human gene in a rat model PMID:9853519|REF_RGD_ID:5129121 11825877 TH tyrosine hydroxylase gene DOID:14330 Parkinson's disease ISO RGD:733897 D RGD:9068941 20200609 RGD protein:decreased expression:striatum (human) PMID:15857400|REF_RGD_ID:2289955 11825877 TH tyrosine hydroxylase gene DOID:1440 Machado-Joseph disease ISO RGD:3853 D RGD:9068941 20200609 RGD protein:decreased expression:substantia nigra (rat) PMID:18385100|REF_RGD_ID:5131159 11825877 TH tyrosine hydroxylase gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:733897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11825877 TH tyrosine hydroxylase gene DOID:1596 depressive disorder ISO RGD:3853 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:hippocampus: PMID:24495952|REF_RGD_ID:9681459 11825877 TH tyrosine hydroxylase gene DOID:1826 epilepsy ISO RGD:3853 D RGD:9068941 20200609 RGD protein:decreased activity:cerebral cortex (rat) PMID:19605093|REF_RGD_ID:5128800 11825877 TH tyrosine hydroxylase gene DOID:2316 brain ischemia ISO RGD:3853 D RGD:9068941 20200609 RGD protein:decreased expression:solitary tract nucleus, medulla oblongata, locus coeruleus (rat) PMID:18356740|REF_RGD_ID:5129691 11825877 TH tyrosine hydroxylase gene DOID:3525 middle cerebral artery infarction ISO RGD:3853 D RGD:9068941 20200609 RGD protein:decreased expression:substantia nigra pars compacta, neuron (rat) PMID:21366664|REF_RGD_ID:5128609 11825877 TH tyrosine hydroxylase gene DOID:4676 uremia ISO RGD:3853 D RGD:9068941 20200609 RGD protein:decreased activity:brain (rat) PMID:2875142|REF_RGD_ID:5128603 11825877 TH tyrosine hydroxylase gene DOID:543 dystonia ISO RGD:733897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia 1 | ClinVar Annotator: match by term: Dystonic disorder PMID:10407773|PMID:11160968|PMID:11246459|PMID:15468323|PMID:16199547|PMID:17576681|PMID:17696123|PMID:20399390|PMID:20430833|PMID:20823027|PMID:21465550|PMID:21940685|PMID:22264700|PMID:23939262|PMID:24753243|PMID:25741868|PMID:26220941|PMID:26276013|PMID:26467025|PMID:27185167|PMID:27619486|PMID:28492532|PMID:29225908|PMID:29724574|PMID:29801903|PMID:32185155|PMID:33072517|PMID:34054692|PMID:7814018|PMID:8528210|PMID:8817341|PMID:9235905|PMID:9536098|PMID:9703425 11825877 TH tyrosine hydroxylase gene DOID:543 dystonia ISO RGD:733897 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:10407773|PMID:11160968|PMID:11246459|PMID:15468323|PMID:16199547|PMID:17576681|PMID:17696123|PMID:20399390|PMID:20430833|PMID:20823027|PMID:22264700|PMID:24753243|PMID:25741868|PMID:26220941|PMID:27185167|PMID:28492532|PMID:29225908|PMID:29724574|PMID:32185155|PMID:33072517|PMID:34054692|PMID:7814018|PMID:8528210|PMID:8817341|PMID:9536098|PMID:9703425 11825877 TH tyrosine hydroxylase gene DOID:5844 myocardial infarction no_association ISO RGD:733897 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:g.1170_1173dupTCAT (human) PMID:16139102|REF_RGD_ID:1580048 11825877 TH tyrosine hydroxylase gene DOID:6000 congestive heart failure ISO RGD:11414 D RGD:9068941 20200609 RGD PMID:7715703|REF_RGD_ID:737737 11825877 TH tyrosine hydroxylase gene DOID:6000 congestive heart failure ISO RGD:3853 D RGD:9068941 20200609 RGD protein:increased expression:paraventricular thalamic nucleus (rat) PMID:21287352|REF_RGD_ID:5128674 11825877 TH tyrosine hydroxylase gene DOID:630 genetic disease ISO RGD:733897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11160968|PMID:11246459|PMID:15468323|PMID:17696123|PMID:20399390|PMID:20430833|PMID:22264700|PMID:24753243|PMID:25741868|PMID:28492532|PMID:29225908|PMID:29724574|PMID:33072517|PMID:34054692 11825877 TH tyrosine hydroxylase gene DOID:684 hepatocellular carcinoma ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11825877 TH tyrosine hydroxylase gene DOID:769 neuroblastoma ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25174395 11825877 TH tyrosine hydroxylase gene DOID:8927 learning disability ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10984662|PMID:9822156 11825877 TH tyrosine hydroxylase gene DOID:9000998 Brain Injuries ISO RGD:3853 D RGD:9068941 20200609 RGD protein:decreased activity:striatum (rat) PMID:21047500|REF_RGD_ID:5128822 11825877 TH tyrosine hydroxylase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3853 D RGD:9068941 20200609 RGD mRNA:decreased expression:superior mesenteric artery (rat) PMID:18457899|REF_RGD_ID:5129683 11825877 TH tyrosine hydroxylase gene DOID:9002188 Hypoinsulinemia ISO RGD:733897 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypoinsulinemia PMID:12610512|PMID:25741868|PMID:26467025|PMID:33206859 11825877 TH tyrosine hydroxylase gene DOID:9002362 Hyperkinesis ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9822156 11825877 TH tyrosine hydroxylase gene DOID:9002955 Nerve Degeneration ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12871582 11825877 TH tyrosine hydroxylase gene DOID:9003282 Hyperproinsulinemia ISO RGD:733897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperproinsulinemia PMID:25741868 11825877 TH tyrosine hydroxylase gene DOID:9003805 Catalepsy ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10984662|PMID:9822156 11825877 TH tyrosine hydroxylase gene DOID:9004009 Reperfusion Injury ISO RGD:733897 D RGD:9068941 20200609 RGD protein:increased expression:medulla oblongata (human) PMID:21061149|REF_RGD_ID:5128821 11825877 TH tyrosine hydroxylase gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:733897 D RGD:7240710 20180130 OMIM 11825877 TH tyrosine hydroxylase gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:733897 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:10407773|PMID:10585338|PMID:10753262|PMID:11160968|PMID:11246459|PMID:11281275|PMID:11921414|PMID:12610512|PMID:12891655|PMID:15468323|PMID:15505183|PMID:15747353|PMID:16049992|PMID:16199547|PMID:16376043|PMID:16643317|PMID:17576681|PMID:17696123|PMID:17698383|PMID:17698732|PMID:18058633|PMID:18162506|PMID:18171712|PMID:18554280|PMID:19120120|PMID:19224593|PMID:19282209|PMID:19491146|PMID:20056467|PMID:2019643|PMID:20198643|PMID:20301610|PMID:20399390|PMID:20430833|PMID:20492352|PMID:20809526|PMID:20823027|PMID:21937992|PMID:22264700|PMID:22572540|PMID:22583432|PMID:22815559|PMID:23480488|PMID:23762320|PMID:23939262|PMID:24033266|PMID:24275212|PMID:24753243|PMID:25181484|PMID:25224241|PMID:25542748|PMID:25741868|PMID:25758715|PMID:25910213|PMID:26101329|PMID:26220941|PMID:26276013|PMID:26467025|PMID:26686676|PMID:27165006|PMID:27185167|PMID:27619486|PMID:27934587|PMID:27973928|PMID:28087438|PMID:28186668|PMID:28492532|PMID:28667724|PMID:28726809|PMID:29126763|PMID:29225908|PMID:29405179|PMID:29724574|PMID:29801903|PMID:30455893|PMID:30456822|PMID:31130284|PMID:31273557|PMID:31392251|PMID:32005694|PMID:32185155|PMID:32395404|PMID:32872068|PMID:33072517|PMID:33206859|PMID:33233562|PMID:33742171|PMID:34054692|PMID:35083481|PMID:7789962|PMID:7814018|PMID:7910484|PMID:7964718|PMID:8528210|PMID:8817341|PMID:9235905|PMID:9536098|PMID:9703425|PMID:9732974|PMID:9754624 11825877 TH tyrosine hydroxylase gene DOID:9004407 Permanent Neonatal Diabetes Mellitus 4 ISO RGD:733897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 4 PMID:25741868 11825877 TH tyrosine hydroxylase gene DOID:9005166 Contusions ISO RGD:3853 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland (rat) PMID:18987458|REF_RGD_ID:5129532 11825877 TH tyrosine hydroxylase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3853 D RGD:9068941 20200609 RGD protein:increased expression:seminal vesicle PMID:17151307|REF_RGD_ID:1601629 11825877 TH tyrosine hydroxylase gene DOID:9007279 Type 2 Diabetes Mellitus 1 ISO RGD:733897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 PMID:18162506|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30456822 11825877 TH tyrosine hydroxylase gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15659429 11825877 TH tyrosine hydroxylase gene DOID:9352 type 2 diabetes mellitus ISO RGD:733897 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25741868|PMID:26467025|PMID:28492532|PMID:30456822 11825877 TH tyrosine hydroxylase gene DOID:936 brain disease ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7842013 11825877 TH tyrosine hydroxylase gene DOID:9744 type 1 diabetes mellitus ISO RGD:733897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus PMID:11921414|PMID:18162506|PMID:18171712|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532 11825877 TH tyrosine hydroxylase gene DOID:9970 obesity resistance ISO RGD:733897 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:g.1170_1173dupTCAT (human) PMID:16251897|REF_RGD_ID:1601632 11825877 TH tyrosine hydroxylase gene DOID:9993 hypoglycemia ISO RGD:3853 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:adrenal gland (rat) PMID:16396986|REF_RGD_ID:5130724 11825903 FYN FYN proto-oncogene, Src family tyrosine kinase gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:731929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 11825903 FYN FYN proto-oncogene, Src family tyrosine kinase gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:731929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413734 11825903 FYN FYN proto-oncogene, Src family tyrosine kinase gene DOID:10652 Alzheimer's disease ISO RGD:731929 D RGD:9068941 20200609 RGD PMID:14999081|REF_RGD_ID:1358600 11825903 FYN FYN proto-oncogene, Src family tyrosine kinase gene DOID:10652 Alzheimer's disease ISO RGD:731929 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex, soluble fraction (human) PMID:15708437|REF_RGD_ID:1358602 11825903 FYN FYN proto-oncogene, Src family tyrosine kinase gene DOID:3151 skin squamous cell carcinoma ISO RGD:731930 D RGD:9068941 20220825 MouseDO 11825903 FYN FYN proto-oncogene, Src family tyrosine kinase gene DOID:3328 temporal lobe epilepsy ISO RGD:2641 D RGD:9068941 20200609 RGD protein:increased expression:forebrain, postsynaptic density PMID:11226670|REF_RGD_ID:5147998 11825903 FYN FYN proto-oncogene, Src family tyrosine kinase gene DOID:37 skin disease ISO RGD:731930 D RGD:9068941 20220825 MouseDO 11825903 FYN FYN proto-oncogene, Src family tyrosine kinase gene DOID:3770 pulmonary fibrosis ISO RGD:731929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30658076 11825903 FYN FYN proto-oncogene, Src family tyrosine kinase gene DOID:5419 schizophrenia ISO RGD:731929 D RGD:9068941 20200609 RGD PMID:12670706|REF_RGD_ID:1358593 11825903 FYN FYN proto-oncogene, Src family tyrosine kinase gene DOID:5426 primary ovarian insufficiency ISO RGD:731929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11825903 FYN FYN proto-oncogene, Src family tyrosine kinase gene DOID:630 genetic disease ISO RGD:731929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11825903 FYN FYN proto-oncogene, Src family tyrosine kinase gene DOID:9000217 Stomach Neoplasms ISO RGD:731929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11825903 FYN FYN proto-oncogene, Src family tyrosine kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11825903 FYN FYN proto-oncogene, Src family tyrosine kinase gene DOID:9003805 Catalepsy ISO RGD:731929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16407246 11825903 FYN FYN proto-oncogene, Src family tyrosine kinase gene DOID:9004484 Sepsis ISO RGD:2641 D RGD:9068941 20200609 RGD protein:decreased phosphorylation, decreased activity:T cell (rat) PMID:9551931|REF_RGD_ID:2324866 11825903 FYN FYN proto-oncogene, Src family tyrosine kinase gene DOID:9007730 Burns ISO RGD:2641 D RGD:9068941 20200609 RGD protein:decreased phosphorylation, decreased activity:T cell (rat) PMID:12353920|REF_RGD_ID:2324864 11825924 TXNRD3 thioredoxin reductase 3 gene DOID:0050860 colorectal adenoma ISO RGD:1318088 D RGD:9068941 20220407 RGD mRNA:increased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 11825924 TXNRD3 thioredoxin reductase 3 gene DOID:0080199 colorectal carcinoma ISO RGD:1318088 D RGD:9068941 20220407 RGD mRNA:increased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 11825924 TXNRD3 thioredoxin reductase 3 gene DOID:630 genetic disease ISO RGD:1318088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11825924 TXNRD3 thioredoxin reductase 3 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1318088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 11825924 TXNRD3 thioredoxin reductase 3 gene DOID:9270 alkaptonuria ISO RGD:1318088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11825944 SLC12A5 solute carrier family 12 member 5 gene DOID:0080460 developmental and epileptic encephalopathy 34 ISO RGD:731044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 34 PMID:16199547|PMID:17576681|PMID:24668262|PMID:24928908|PMID:25741868|PMID:26333769|PMID:26528127|PMID:27436767|PMID:27535533|PMID:28492532|PMID:30763027|PMID:31104500|PMID:31618474|PMID:9536098 11825944 SLC12A5 solute carrier family 12 member 5 gene DOID:0080460 developmental and epileptic encephalopathy 34 susceptibility ISO RGD:731044 D RGD:7240710 20230505 OMIM 11825944 SLC12A5 solute carrier family 12 member 5 gene DOID:0111315 idiopathic generalized epilepsy 14 ISO RGD:731044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 14 PMID:24668262|PMID:24928908|PMID:25741868|PMID:26528127|PMID:27535533|PMID:28492532|PMID:31104500 11825944 SLC12A5 solute carrier family 12 member 5 gene DOID:0111315 idiopathic generalized epilepsy 14 susceptibility ISO RGD:731044 D RGD:7240710 20230505 OMIM 11825944 SLC12A5 solute carrier family 12 member 5 gene DOID:10907 microcephaly ISO RGD:731044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11825944 SLC12A5 solute carrier family 12 member 5 gene DOID:1824 status epilepticus ISO RGD:731044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20600929 11825944 SLC12A5 solute carrier family 12 member 5 gene DOID:1826 epilepsy ISO RGD:731044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12000122|PMID:18550034 11825944 SLC12A5 solute carrier family 12 member 5 gene DOID:1826 epilepsy ISO RGD:731045 D RGD:9068941 20220825 MouseDO 11825944 SLC12A5 solute carrier family 12 member 5 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:731044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11825944 SLC12A5 solute carrier family 12 member 5 gene DOID:2234 focal epilepsy ISO RGD:731044 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11825944 SLC12A5 solute carrier family 12 member 5 gene DOID:3328 temporal lobe epilepsy ISO RGD:731044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19674083 11825944 SLC12A5 solute carrier family 12 member 5 gene DOID:630 genetic disease ISO RGD:731044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11825944 SLC12A5 solute carrier family 12 member 5 gene DOID:9002211 Hyperalgesia ISO RGD:731044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20086212 11825983 N4BP2L2 NEDD4 binding protein 2 like 2 gene DOID:37 skin disease ISO RGD:1603408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11825983 N4BP2L2 NEDD4 binding protein 2 like 2 gene DOID:630 genetic disease ISO RGD:1603408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11825983 N4BP2L2 NEDD4 binding protein 2 like 2 gene DOID:9007661 Dwarfism ISO RGD:1603408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11825983 N4BP2L2 NEDD4 binding protein 2 like 2 gene DOID:9007964 Arsenic Poisoning ISO RGD:1603408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11826012 RPL9 ribosomal protein L9 gene DOID:630 genetic disease ISO RGD:736467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11826012 RPL9 ribosomal protein L9 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:736467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency PMID:28492532 11826012 RPL9 ribosomal protein L9 gene DOID:9004484 Sepsis ISO RGD:736467 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27978524 11826034 RUNDC1 RUN domain containing 1 gene DOID:10283 prostate cancer ISO RGD:1316714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11826034 RUNDC1 RUN domain containing 1 gene DOID:630 genetic disease ISO RGD:1316714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11826050 FRYL FRY like transcription coactivator gene DOID:630 genetic disease ISO RGD:1352555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11826123 RCCD1 RCC1 domain containing 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1605899 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 11826123 RCCD1 RCC1 domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1605899 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11826123 RCCD1 RCC1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1605899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11826123 RCCD1 RCC1 domain containing 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1605899 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 11826135 XAGE3 X antigen family member 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1348257 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11826135 XAGE3 X antigen family member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348257 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11826135 XAGE3 X antigen family member 3 gene DOID:12849 autistic disorder ISO RGD:1348257 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11826135 XAGE3 X antigen family member 3 gene DOID:630 genetic disease ISO RGD:1348257 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11826136 LOC100976978 E3 ubiquitin-protein ligase HERC2 gene DOID:0060041 autism spectrum disorder ISO RGD:1317498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 11826136 LOC100976978 E3 ubiquitin-protein ligase HERC2 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1317498 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 11826136 LOC100976978 E3 ubiquitin-protein ligase HERC2 gene DOID:0080820 occupational asthma ISO RGD:1317498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25918132 11826136 LOC100976978 E3 ubiquitin-protein ligase HERC2 gene DOID:0081203 autosomal recessive intellectual developmental disorder 38 ISO RGD:1317498 D RGD:7240710 20180130 OMIM 11826136 LOC100976978 E3 ubiquitin-protein ligase HERC2 gene DOID:0081203 autosomal recessive intellectual developmental disorder 38 ISO RGD:1317498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 38 PMID:23065719|PMID:23243086|PMID:24033266|PMID:25741868|PMID:28492532 11826136 LOC100976978 E3 ubiquitin-protein ligase HERC2 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1317498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:25741868|PMID:30755392 11826136 LOC100976978 E3 ubiquitin-protein ligase HERC2 gene DOID:1059 intellectual disability ISO RGD:1317498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11826136 LOC100976978 E3 ubiquitin-protein ligase HERC2 gene DOID:11983 Prader-Willi syndrome ISO RGD:1317498 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:25741868|PMID:28492532|PMID:28631899 11826136 LOC100976978 E3 ubiquitin-protein ligase HERC2 gene DOID:12849 autistic disorder ISO RGD:1317498 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 11826136 LOC100976978 E3 ubiquitin-protein ligase HERC2 gene DOID:1932 Angelman syndrome ISO RGD:1317498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:24088041|PMID:26633545 11826136 LOC100976978 E3 ubiquitin-protein ligase HERC2 gene DOID:5419 schizophrenia ISO RGD:1317498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11826136 LOC100976978 E3 ubiquitin-protein ligase HERC2 gene DOID:543 dystonia ISO RGD:1317498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868|PMID:30755392 11826136 LOC100976978 E3 ubiquitin-protein ligase HERC2 gene DOID:630 genetic disease ISO RGD:1317498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18442486|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30755392 11826136 LOC100976978 E3 ubiquitin-protein ligase HERC2 gene DOID:8577 ulcerative colitis ISO RGD:1317498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438405 11826136 LOC100976978 E3 ubiquitin-protein ligase HERC2 gene DOID:9000752 Skin/Hair/Eye Pigmentation, Variation In, 1 ISO RGD:1317498 D RGD:7240710 20180130 OMIM 11826136 LOC100976978 E3 ubiquitin-protein ligase HERC2 gene DOID:9000752 Skin/Hair/Eye Pigmentation, Variation In, 1 ISO RGD:1317498 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 1 PMID:17236130|PMID:17952075|PMID:18172690|PMID:18252221|PMID:18252222|PMID:22234890|PMID:25741868|PMID:28492532 11826136 LOC100976978 E3 ubiquitin-protein ligase HERC2 gene DOID:9000884 Rhabdomyolysis ISO RGD:1317498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:25741868|PMID:30755392 11826136 LOC100976978 E3 ubiquitin-protein ligase HERC2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11826136 LOC100976978 E3 ubiquitin-protein ligase HERC2 gene DOID:9005603 Muscle Hypotonia ISO RGD:1317498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:25741868 11826136 LOC100976978 E3 ubiquitin-protein ligase HERC2 gene DOID:9008086 Developmental Disabilities ISO RGD:1317498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:30755392 11826136 LOC100976978 E3 ubiquitin-protein ligase HERC2 gene DOID:9008173 Paraparesis ISO RGD:1317498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paraparesis PMID:25741868 11826136 LOC100976978 E3 ubiquitin-protein ligase HERC2 gene DOID:9008675 Dyskinesias ISO RGD:1317498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Involuntary movements PMID:25741868|PMID:30755392 11826136 LOC100976978 E3 ubiquitin-protein ligase HERC2 gene DOID:9008939 Breast Neoplasms ISO RGD:1317498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:16397024|PMID:23220880 11826136 LOC100976978 E3 ubiquitin-protein ligase HERC2 gene DOID:9009060 Childhood Absence Epilepsy 1 ISO RGD:1317498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 PMID:26068938|PMID:28492532 11826234 GPR25 G protein-coupled receptor 25 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1323161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11826234 GPR25 G protein-coupled receptor 25 gene DOID:1540 parathyroid carcinoma ISO RGD:1323161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11826234 GPR25 G protein-coupled receptor 25 gene DOID:630 genetic disease ISO RGD:1323161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11826234 GPR25 G protein-coupled receptor 25 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1323161 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11826234 GPR25 G protein-coupled receptor 25 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11826240 KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1354203 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11826240 KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 gene DOID:12712 nephronophthisis ISO RGD:1354203 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 11826240 KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 gene DOID:1826 epilepsy ISO RGD:1354203 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11826240 KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 gene DOID:630 genetic disease ISO RGD:1354203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11826240 KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11826308 LOC100983727 olfactory receptor 4C6 gene DOID:1059 intellectual disability ISO RGD:1345291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11826308 LOC100983727 olfactory receptor 4C6 gene DOID:630 genetic disease ISO RGD:1345291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11826309 SQOR sulfide quinone oxidoreductase gene DOID:0080600 COVID-19 ISO RGD:1353757 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11826309 SQOR sulfide quinone oxidoreductase gene DOID:2717 Bloom syndrome ISO RGD:1353757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11826309 SQOR sulfide quinone oxidoreductase gene DOID:630 genetic disease ISO RGD:1353757 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11826309 SQOR sulfide quinone oxidoreductase gene DOID:9008341 SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY ISO RGD:1353757 D RGD:7240710 20210421 OMIM 11826309 SQOR sulfide quinone oxidoreductase gene DOID:9008341 SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY ISO RGD:1353757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY PMID:32160317 11826309 SQOR sulfide quinone oxidoreductase gene DOID:9256 colorectal cancer ISO RGD:1353757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11826331 THOP1 thimet oligopeptidase 1 gene DOID:630 genetic disease ISO RGD:68460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11826331 THOP1 thimet oligopeptidase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11826353 KCNE5 potassium voltage-gated channel subfamily E regulatory subunit 5 gene DOID:0050451 Brugada syndrome ISO RGD:1345038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:28492532|PMID:30847666 11826353 KCNE5 potassium voltage-gated channel subfamily E regulatory subunit 5 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1345038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 11826353 KCNE5 potassium voltage-gated channel subfamily E regulatory subunit 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11826353 KCNE5 potassium voltage-gated channel subfamily E regulatory subunit 5 gene DOID:12849 autistic disorder ISO RGD:1345038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11826353 KCNE5 potassium voltage-gated channel subfamily E regulatory subunit 5 gene DOID:630 genetic disease ISO RGD:1345038 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11826358 NUFIP1 nuclear FMR1 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1347229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11826372 RNASE7 ribonuclease A family member 7 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1344446 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 11826372 RNASE7 ribonuclease A family member 7 gene DOID:630 genetic disease ISO RGD:1344446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11826372 RNASE7 ribonuclease A family member 7 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1344446 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11826380 SWT1 SWT1 RNA endoribonuclease homolog gene DOID:11372 megacolon ISO RGD:1318617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11826380 SWT1 SWT1 RNA endoribonuclease homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1318617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11826380 SWT1 SWT1 RNA endoribonuclease homolog gene DOID:630 genetic disease ISO RGD:1318617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11826380 SWT1 SWT1 RNA endoribonuclease homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11826421 CERT1 ceramide transporter 1 gene DOID:0070064 autosomal dominant intellectual developmental disorder 34 ISO RGD:1319300 D RGD:7240710 20180130 OMIM 11826421 CERT1 ceramide transporter 1 gene DOID:0070064 autosomal dominant intellectual developmental disorder 34 ISO RGD:1319300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 34 PMID:25533962|PMID:25741868 11826421 CERT1 ceramide transporter 1 gene DOID:1059 intellectual disability ISO RGD:1319300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11826421 CERT1 ceramide transporter 1 gene DOID:10907 microcephaly ISO RGD:1319300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11826421 CERT1 ceramide transporter 1 gene DOID:12849 autistic disorder ISO RGD:1319300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25363768 11826421 CERT1 ceramide transporter 1 gene DOID:1826 epilepsy ISO RGD:1319300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 11826421 CERT1 ceramide transporter 1 gene DOID:3323 Sandhoff disease ISO RGD:1319300 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 11826421 CERT1 ceramide transporter 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1319300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 11826421 CERT1 ceramide transporter 1 gene DOID:630 genetic disease ISO RGD:1319300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17442665|PMID:23033978|PMID:25356899|PMID:25533962|PMID:28135719 11826421 CERT1 ceramide transporter 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11826421 CERT1 ceramide transporter 1 gene DOID:9005775 Perinatal Asphyxia ISO RGD:1309131 D RGD:9068941 20230302 RGD PMID:23625371|REF_RGD_ID:156431056 11826459 PLEKHG4B pleckstrin homology and RhoGEF domain containing G4B gene DOID:10283 prostate cancer ISO RGD:1606952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11826459 PLEKHG4B pleckstrin homology and RhoGEF domain containing G4B gene DOID:630 genetic disease ISO RGD:1606952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11826459 PLEKHG4B pleckstrin homology and RhoGEF domain containing G4B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11826525 SYT1 synaptotagmin 1 gene DOID:0050888 syndromic intellectual disability ISO RGD:736944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:30107533 11826525 SYT1 synaptotagmin 1 gene DOID:11832 visual epilepsy ISO RGD:3803 D RGD:9068941 20200609 RGD PMID:8872307|REF_RGD_ID:730127 11826525 SYT1 synaptotagmin 1 gene DOID:630 genetic disease ISO RGD:736944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15456828|PMID:21338883|PMID:25705886|PMID:25741868|PMID:30107533|PMID:32362337|PMID:35101335 11826525 SYT1 synaptotagmin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: SYT1-associated neurodevelopmental disorder PMID:25705886|PMID:25712080|PMID:25741868|PMID:30107533|PMID:32362337|PMID:35101335 11826525 SYT1 synaptotagmin 1 gene DOID:9008596 Baker-Gordon Syndrome ISO RGD:736944 D RGD:7240710 20190315 OMIM 11826525 SYT1 synaptotagmin 1 gene DOID:9008596 Baker-Gordon Syndrome ISO RGD:736944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BAKER-GORDON SYNDROME | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENT AND ABNORMAL ELECTROENCEPHALOGRAM PMID:25705886|PMID:25712080|PMID:25741868|PMID:30107533|PMID:32362337|PMID:35101335 11826552 LOC100991978 interleukin-36 receptor antagonist protein gene DOID:0080474 pustular psoriasis 14 ISO RGD:1322552 D RGD:7240710 20180130 OMIM 11826552 LOC100991978 interleukin-36 receptor antagonist protein gene DOID:0080474 pustular psoriasis 14 ISO RGD:1322552 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ACRODERMATITIS CONTINUA OF HALLOPEAU | ClinVar Annotator: match by term: Generalized pustular psoriasis | ClinVar Annotator: match by term: Psoriasis 14, pustular PMID:16199547|PMID:17576681|PMID:19494218|PMID:21792839|PMID:21839423|PMID:21848462|PMID:22428995|PMID:22903787|PMID:22940634|PMID:23303454|PMID:23358093|PMID:23428889|PMID:23648549|PMID:23698098|PMID:23792462|PMID:23834760|PMID:23863864|PMID:24019411|PMID:24033266|PMID:24898045|PMID:24979538|PMID:25212972|PMID:25427108|PMID:25458002|PMID:25468355|PMID:25615897|PMID:25741868|PMID:25989471|PMID:26100510|PMID:26147717|PMID:26589685|PMID:26676204|PMID:27096382|PMID:27220475|PMID:27388993|PMID:27542682|PMID:27900482|PMID:28063630|PMID:28492532|PMID:28887889|PMID:29030861|PMID:29665114|PMID:29892664|PMID:30036598|PMID:30609409|PMID:30953287|PMID:33729564|PMID:34339530|PMID:9536098 11826552 LOC100991978 interleukin-36 receptor antagonist protein gene DOID:289 endometriosis ISO RGD:1322552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometriosis 11826552 LOC100991978 interleukin-36 receptor antagonist protein gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1322552 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:17576681|PMID:21839423|PMID:22428995|PMID:22903787|PMID:23303454|PMID:23428889|PMID:23648549|PMID:23698098|PMID:23792462|PMID:23863864|PMID:24033266|PMID:24979538|PMID:25212972|PMID:25427108|PMID:25458002|PMID:25468355|PMID:25741868|PMID:25989471|PMID:26147717|PMID:26589685|PMID:26676204|PMID:27220475|PMID:27388993|PMID:27542682|PMID:28063630|PMID:28492532|PMID:28887889|PMID:29030861|PMID:30036598|PMID:30609409|PMID:9536098 11826552 LOC100991978 interleukin-36 receptor antagonist protein gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1322552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:17576681|PMID:21839423|PMID:22428995|PMID:22903787|PMID:23303454|PMID:23428889|PMID:23648549|PMID:23698098|PMID:23792462|PMID:23863864|PMID:24033266|PMID:24979538|PMID:25212972|PMID:25427108|PMID:25458002|PMID:25468355|PMID:25741868|PMID:25989471|PMID:26147717|PMID:26589685|PMID:26676204|PMID:27220475|PMID:27388993|PMID:27542682|PMID:27900482|PMID:28063630|PMID:28492532|PMID:28887889|PMID:29030861|PMID:30036598|PMID:30609409|PMID:9536098 11826552 LOC100991978 interleukin-36 receptor antagonist protein gene DOID:630 genetic disease ISO RGD:1322552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11826552 LOC100991978 interleukin-36 receptor antagonist protein gene DOID:8893 psoriasis ISO RGD:1322552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11826552 LOC100991978 interleukin-36 receptor antagonist protein gene DOID:9007151 Deficiency of Interleukin-1 Receptor Antagonist ISO RGD:1322552 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis PMID:19494218|PMID:21792839|PMID:22940634|PMID:23698098|PMID:26100510|PMID:28492532 11826552 LOC100991978 interleukin-36 receptor antagonist protein gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1311212 D RGD:9068941 20210514 RGD PMID:32048631|REF_RGD_ID:126925167 11826564 C17H17orf80 chromosome 17 C17orf80 homolog gene DOID:10283 prostate cancer ISO RGD:1602883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11826564 C17H17orf80 chromosome 17 C17orf80 homolog gene DOID:630 genetic disease ISO RGD:1602883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11826590 SCGB1A1 secretoglobin family 1A member 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:735247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11826590 SCGB1A1 secretoglobin family 1A member 1 gene DOID:1059 intellectual disability ISO RGD:735247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11826590 SCGB1A1 secretoglobin family 1A member 1 gene DOID:10754 otitis media ISO RGD:3934 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:epithelial cell PMID:15799573|REF_RGD_ID:5144051 11826590 SCGB1A1 secretoglobin family 1A member 1 gene DOID:11049 meconium aspiration syndrome ISO RGD:735247 D RGD:9068941 20200609 RGD protein:increased expression:broncho-alveolar lavage fluid, meconium: PMID:21567110|REF_RGD_ID:5144123 11826590 SCGB1A1 secretoglobin family 1A member 1 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:735247 D RGD:9068941 20200609 RGD PMID:11435254|REF_RGD_ID:5144211 11826590 SCGB1A1 secretoglobin family 1A member 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:11475 D RGD:9068941 20200609 RGD PMID:12847279|REF_RGD_ID:5144208 11826590 SCGB1A1 secretoglobin family 1A member 1 gene DOID:2797 idiopathic interstitial pneumonia ISO RGD:735247 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15467329|REF_RGD_ID:5144148 11826590 SCGB1A1 secretoglobin family 1A member 1 gene DOID:2799 bronchiolitis obliterans ISO RGD:735247 D RGD:9068941 20200609 RGD associated with lung transplantation; protein:decreased expression:serum,bronchoalveolar lavage PMID:11981419|REF_RGD_ID:5147386 11826590 SCGB1A1 secretoglobin family 1A member 1 gene DOID:2841 asthma ISO RGD:735247 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Asthma, susceptibility to PMID:12100044|PMID:9550363|PMID:9643286 11826590 SCGB1A1 secretoglobin family 1A member 1 gene DOID:2841 asthma susceptibility ISO RGD:735247 D RGD:9068941 20200609 RGD associated with allergic rhinitis; DNA:SNP:exon:38G>A (human) PMID:21255142|REF_RGD_ID:5144226 11826590 SCGB1A1 secretoglobin family 1A member 1 gene DOID:2921 glomerulonephritis ISO RGD:735247 D RGD:9068941 20200609 RGD recombinant human SCGB1A1 in "experimental crescentic glomerulonephritis" model (mice) PMID:18558621|REF_RGD_ID:6903251 11826590 SCGB1A1 secretoglobin family 1A member 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:11475 D RGD:9068941 20220825 MouseDO OMIM:161950 | OMIM:616818 11826590 SCGB1A1 secretoglobin family 1A member 1 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:735247 D RGD:9068941 20200609 RGD PMID:11967037|REF_RGD_ID:6903255 11826590 SCGB1A1 secretoglobin family 1A member 1 gene DOID:3021 acute kidney failure ISO RGD:3934 D RGD:9068941 20200609 RGD associated with LPS induced endotoxemia PMID:18824919|REF_RGD_ID:2313129 11826590 SCGB1A1 secretoglobin family 1A member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease 11826590 SCGB1A1 secretoglobin family 1A member 1 gene DOID:3770 pulmonary fibrosis ISO RGD:3934 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:lung PMID:16369113|REF_RGD_ID:5144139 11826590 SCGB1A1 secretoglobin family 1A member 1 gene DOID:3770 pulmonary fibrosis ISO RGD:735247 D RGD:9068941 20200609 RGD associated with scleroderma, systemic; protein:increased expression:serum: PMID:21239758|REF_RGD_ID:5144130 11826590 SCGB1A1 secretoglobin family 1A member 1 gene DOID:4481 allergic rhinitis ISO RGD:11475 D RGD:9068941 20200609 RGD mRNA:decreased expression:nasal mucosa, lung PMID:17882576|REF_RGD_ID:5144135 11826590 SCGB1A1 secretoglobin family 1A member 1 gene DOID:850 lung disease ISO RGD:735247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16052892 11826590 SCGB1A1 secretoglobin family 1A member 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:11475 D RGD:9068941 20200609 RGD PMID:11597923|REF_RGD_ID:5144210 11826590 SCGB1A1 secretoglobin family 1A member 1 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:11475 D RGD:9068941 20200609 RGD PMID:15608088|REF_RGD_ID:5144143 11826590 SCGB1A1 secretoglobin family 1A member 1 gene DOID:9004610 Acute Lung Injury ISO RGD:11475 D RGD:9068941 20200609 RGD PMID:16226776|REF_RGD_ID:5144142 11826590 SCGB1A1 secretoglobin family 1A member 1 gene DOID:9004610 Acute Lung Injury ISO RGD:3934 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:18420837|REF_RGD_ID:5143982 11826590 SCGB1A1 secretoglobin family 1A member 1 gene DOID:9004659 Respiration Disorders ISO RGD:735247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18288317 11826590 SCGB1A1 secretoglobin family 1A member 1 gene DOID:9005372 Inflammation ISO RGD:735247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16052892 11826590 SCGB1A1 secretoglobin family 1A member 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:3934 D RGD:9068941 20200609 RGD PMID:11107082|REF_RGD_ID:5144055 11826590 SCGB1A1 secretoglobin family 1A member 1 gene DOID:9007480 Hyperoxia ISO RGD:11475 D RGD:9068941 20200609 RGD mRNA:decreased expression:epithelial cell PMID:9555576|REF_RGD_ID:5144215 11826590 SCGB1A1 secretoglobin family 1A member 1 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:735247 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:nasal lavage fluid PMID:15836756|REF_RGD_ID:5144234 11826590 SCGB1A1 secretoglobin family 1A member 1 gene DOID:9498 pulmonary eosinophilia ISO RGD:735247 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:15467329|REF_RGD_ID:5144148 11826598 FBLN2 fibulin 2 gene DOID:0060417 3p deletion syndrome ISO RGD:1345931 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 11826598 FBLN2 fibulin 2 gene DOID:630 genetic disease ISO RGD:1345931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11826598 FBLN2 fibulin 2 gene DOID:9004657 Weight Gain ISO RGD:1345931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11826598 FBLN2 fibulin 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1345931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 11826621 LOC100995886 cytochrome c1, heme protein, mitochondrial gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1315303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11826621 LOC100995886 cytochrome c1, heme protein, mitochondrial gene DOID:0080115 mitochondrial complex III deficiency nuclear type 6 ISO RGD:1315303 D RGD:7240710 20180130 OMIM 11826621 LOC100995886 cytochrome c1, heme protein, mitochondrial gene DOID:0080115 mitochondrial complex III deficiency nuclear type 6 ISO RGD:1315303 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 6 PMID:23910460|PMID:25741868|PMID:28492532 11826621 LOC100995886 cytochrome c1, heme protein, mitochondrial gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1315303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11826621 LOC100995886 cytochrome c1, heme protein, mitochondrial gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1315303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11826621 LOC100995886 cytochrome c1, heme protein, mitochondrial gene DOID:4621 holoprosencephaly ISO RGD:1315303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11826621 LOC100995886 cytochrome c1, heme protein, mitochondrial gene DOID:630 genetic disease ISO RGD:1315303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11826632 LOC103782837 tubulin alpha-1B chain gene DOID:11476 osteoporosis ISO RGD:1603700 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 11826650 ZNF679 zinc finger protein 679 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2305769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11826650 ZNF679 zinc finger protein 679 gene DOID:630 genetic disease ISO RGD:2305769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11826673 ZNF454 zinc finger protein 454 gene DOID:0050534 congenital stationary night blindness ISO RGD:1346228 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:22008250|PMID:24715752|PMID:26628857|PMID:28492532|PMID:30718709 11826673 ZNF454 zinc finger protein 454 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1346228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11826673 ZNF454 zinc finger protein 454 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1346228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11826673 ZNF454 zinc finger protein 454 gene DOID:0110865 congenital stationary night blindness 1B ISO RGD:1346228 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1B PMID:11874764|PMID:15781871|PMID:16249515|PMID:16622103|PMID:17405131|PMID:19666700|PMID:19862333|PMID:22008250|PMID:22735794|PMID:25307992|PMID:25741868|PMID:26628857|PMID:26667666|PMID:28492532|PMID:30718709 11826673 ZNF454 zinc finger protein 454 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1346228 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11826673 ZNF454 zinc finger protein 454 gene DOID:14791 Leber congenital amaurosis ISO RGD:1346228 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:11874764|PMID:15781871|PMID:16622103|PMID:22008250|PMID:25741868|PMID:28492532|PMID:30718709 11826673 ZNF454 zinc finger protein 454 gene DOID:630 genetic disease ISO RGD:1346228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11826673 ZNF454 zinc finger protein 454 gene DOID:8501 fundus dystrophy ISO RGD:1346228 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11874764|PMID:15781871|PMID:16622103|PMID:19862333|PMID:22008250|PMID:22735794|PMID:25741868|PMID:28492532|PMID:30718709 11826705 CD177 CD177 molecule gene DOID:5419 schizophrenia ISO RGD:1603627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11826705 CD177 CD177 molecule gene DOID:630 genetic disease ISO RGD:1603627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11826713 DUOX1 dual oxidase 1 gene DOID:0050712 AGAT deficiency ISO RGD:1345114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 11826713 DUOX1 dual oxidase 1 gene DOID:2717 Bloom syndrome ISO RGD:1345114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11826713 DUOX1 dual oxidase 1 gene DOID:630 genetic disease ISO RGD:1345114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11826713 DUOX1 dual oxidase 1 gene DOID:9000371 influenza A ISO RGD:1345114 D RGD:9068941 20210122 RGD protein:decreased expression:blood plasma (human) PMID:24888898|REF_RGD_ID:40903071 11826713 DUOX1 dual oxidase 1 gene DOID:9256 colorectal cancer ISO RGD:1345114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11826750 SLC38A4 solute carrier family 38 member 4 gene DOID:630 genetic disease ISO RGD:1347009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11826785 VIPR1 vasoactive intestinal peptide receptor 1 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:735637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 11826785 VIPR1 vasoactive intestinal peptide receptor 1 gene DOID:630 genetic disease ISO RGD:735637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11826785 VIPR1 vasoactive intestinal peptide receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735637 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11826785 VIPR1 vasoactive intestinal peptide receptor 1 gene DOID:8577 ulcerative colitis ISO RGD:735637 D RGD:9068941 20200609 RGD PMID:17611633|REF_RGD_ID:5685618 11826785 VIPR1 vasoactive intestinal peptide receptor 1 gene DOID:8778 Crohn's disease ISO RGD:735637 D RGD:9068941 20200609 RGD PMID:17611633|REF_RGD_ID:5685618 11826785 VIPR1 vasoactive intestinal peptide receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735637 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11826785 VIPR1 vasoactive intestinal peptide receptor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:11486 D RGD:9068941 20200609 RGD PMID:21129425|REF_RGD_ID:5685622 11826785 VIPR1 vasoactive intestinal peptide receptor 1 gene DOID:9164 achalasia onset ISO RGD:735637 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs437876 (human) PMID:19309439|REF_RGD_ID:5685626 11826824 LOC100977985 keratin-associated protein 5-11 gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1605177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 11826824 LOC100977985 keratin-associated protein 5-11 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1605177 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11826824 LOC100977985 keratin-associated protein 5-11 gene DOID:1059 intellectual disability ISO RGD:1605177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11826824 LOC100977985 keratin-associated protein 5-11 gene DOID:630 genetic disease ISO RGD:1605177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11826839 RHOG ras homolog family member G gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11826839 RHOG ras homolog family member G gene DOID:0060354 Stormorken syndrome ISO RGD:1316030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stormorken syndrome PMID:28492532 11826839 RHOG ras homolog family member G gene DOID:0080773 delta beta-thalassemia ISO RGD:1316030 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11826839 RHOG ras homolog family member G gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11826839 RHOG ras homolog family member G gene DOID:630 genetic disease ISO RGD:1316030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:9614181 11826844 RBM15B RNA binding motif protein 15B gene DOID:630 genetic disease ISO RGD:1350628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11826849 SPATS2 spermatogenesis associated serine rich 2 gene DOID:630 genetic disease ISO RGD:1312420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11826866 SVBP small vasohibin binding protein gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11826866 SVBP small vasohibin binding protein gene DOID:10907 microcephaly ISO RGD:1605525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:30607023|PMID:31363758 11826866 SVBP small vasohibin binding protein gene DOID:630 genetic disease ISO RGD:1605525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11826866 SVBP small vasohibin binding protein gene DOID:9008370 NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY ISO RGD:1605525 D RGD:7240710 20230104 OMIM 11826866 SVBP small vasohibin binding protein gene DOID:9008370 NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY ISO RGD:1605525 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly PMID:25741868|PMID:30607023|PMID:31363758 11826872 SLC7A3 solute carrier family 7 member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11826872 SLC7A3 solute carrier family 7 member 3 gene DOID:1059 intellectual disability ISO RGD:733970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31690835 11826872 SLC7A3 solute carrier family 7 member 3 gene DOID:12849 autistic disorder ISO RGD:733970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11826872 SLC7A3 solute carrier family 7 member 3 gene DOID:630 genetic disease ISO RGD:733970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11826872 SLC7A3 solute carrier family 7 member 3 gene DOID:9007898 FG Syndrome 1 ISO RGD:733970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 11826888 LINC02875 long intergenic non-protein coding RNA 2875 gene DOID:0050777 Joubert syndrome ISO RGD:1601914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11826888 LINC02875 long intergenic non-protein coding RNA 2875 gene DOID:11372 megacolon ISO RGD:1601914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11826893 SLITRK1 SLIT and NTRK like family member 1 gene DOID:0050587 trichotillomania ISO RGD:1318872 D RGD:7240710 20180130 OMIM 11826893 SLITRK1 SLIT and NTRK like family member 1 gene DOID:0050587 trichotillomania ISO RGD:1318872 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Trichotillomania PMID:20301778|PMID:25741868 11826893 SLITRK1 SLIT and NTRK like family member 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1318872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11826893 SLITRK1 SLIT and NTRK like family member 1 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:1318872 D RGD:7240710 20180130 OMIM 11826893 SLITRK1 SLIT and NTRK like family member 1 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:1318872 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Tourette syndrome PMID:17003809|PMID:17035247|PMID:18413575|PMID:19018236|PMID:20301778|PMID:20351724|PMID:22942103|PMID:23528612|PMID:23835198|PMID:23990902|PMID:25741868|PMID:27812321|PMID:28492532 11826893 SLITRK1 SLIT and NTRK like family member 1 gene DOID:630 genetic disease ISO RGD:1318872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11826899 DEPTOR DEP domain containing MTOR interacting protein gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1344261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11826899 DEPTOR DEP domain containing MTOR interacting protein gene DOID:630 genetic disease ISO RGD:1344261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11826918 CCT4 chaperonin containing TCP1 subunit 4 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:727937 D RGD:9068941 20200609 RGD PMID:12874111|REF_RGD_ID:1299607 11826918 CCT4 chaperonin containing TCP1 subunit 4 gene DOID:5419 schizophrenia ISO RGD:1345648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11826918 CCT4 chaperonin containing TCP1 subunit 4 gene DOID:630 genetic disease ISO RGD:1345648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11826938 TGFA transforming growth factor alpha gene DOID:0050563 nonsyndromic deafness ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27356075 11826938 TGFA transforming growth factor alpha gene DOID:0080178 mucositis ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18803016 11826938 TGFA transforming growth factor alpha gene DOID:11396 pulmonary edema ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11919079 11826938 TGFA transforming growth factor alpha gene DOID:1793 pancreatic cancer ISO RGD:3849 D RGD:9068941 20200609 RGD PMID:17785207|REF_RGD_ID:2317468 11826938 TGFA transforming growth factor alpha gene DOID:1793 pancreatic cancer ISO RGD:736273 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas PMID:1401070|REF_RGD_ID:2317473 11826938 TGFA transforming growth factor alpha gene DOID:2326 gastroenteritis ISO RGD:736273 D RGD:9068941 20200609 RGD PMID:18956197|REF_RGD_ID:2317483 11826938 TGFA transforming growth factor alpha gene DOID:2615 papilloma ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8603490 11826938 TGFA transforming growth factor alpha gene DOID:3021 acute kidney failure ISO RGD:3849 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:11340354|REF_RGD_ID:10395241 11826938 TGFA transforming growth factor alpha gene DOID:3770 pulmonary fibrosis ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18424623 11826938 TGFA transforming growth factor alpha gene DOID:3892 insulinoma ISO RGD:736273 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:8712689|REF_RGD_ID:2317472 11826938 TGFA transforming growth factor alpha gene DOID:3908 lung non-small cell carcinoma ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16230376 11826938 TGFA transforming growth factor alpha gene DOID:4948 gallbladder carcinoma ISO RGD:736273 D RGD:9068941 20200609 RGD PMID:9542514|REF_RGD_ID:2317470 11826938 TGFA transforming growth factor alpha gene DOID:630 genetic disease ISO RGD:736273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11826938 TGFA transforming growth factor alpha gene DOID:6432 pulmonary hypertension ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18424623 11826938 TGFA transforming growth factor alpha gene DOID:684 hepatocellular carcinoma ISO RGD:3849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:9060843|REF_RGD_ID:2317471 11826938 TGFA transforming growth factor alpha gene DOID:684 hepatocellular carcinoma ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15565109|PMID:9029167 11826938 TGFA transforming growth factor alpha gene DOID:687 hepatoblastoma ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11560253 11826938 TGFA transforming growth factor alpha gene DOID:8893 psoriasis ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7519033 11826938 TGFA transforming growth factor alpha gene DOID:9000217 Stomach Neoplasms ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15723263 11826938 TGFA transforming growth factor alpha gene DOID:9000310 Lung Injury ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11919079 11826938 TGFA transforming growth factor alpha gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14514962 11826938 TGFA transforming growth factor alpha gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8603490 11826938 TGFA transforming growth factor alpha gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:3849 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:16734725|REF_RGD_ID:2317490 11826938 TGFA transforming growth factor alpha gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9079223 11826938 TGFA transforming growth factor alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17136230 11826938 TGFA transforming growth factor alpha gene DOID:9002331 Knee Osteoarthritis ISO RGD:3849 D RGD:9068941 20200609 RGD protein:increased expression:cartilage PMID:17968906|REF_RGD_ID:2317486 11826938 TGFA transforming growth factor alpha gene DOID:9002331 Knee Osteoarthritis ISO RGD:736273 D RGD:9068941 20200609 RGD mRNA:increased expression:cartilage PMID:17968906|REF_RGD_ID:2317486 11826938 TGFA transforming growth factor alpha gene DOID:9002955 Nerve Degeneration ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9263032 11826938 TGFA transforming growth factor alpha gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8603490 11826938 TGFA transforming growth factor alpha gene DOID:9005372 Inflammation ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11919079 11826938 TGFA transforming growth factor alpha gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18424623 11826938 TGFA transforming growth factor alpha gene DOID:9006169 Head and Neck Neoplasms ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342401 11826938 TGFA transforming growth factor alpha gene DOID:9007096 Stroke ISO RGD:3849 D RGD:9068941 20200609 RGD PMID:19248822|REF_RGD_ID:2317476 11826938 TGFA transforming growth factor alpha gene DOID:9007188 Liver Neoplasms ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8807143 11826950 MKRN2 makorin ring finger protein 2 gene DOID:0060583 Noonan syndrome 5 ISO RGD:1321625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 5 11826950 MKRN2 makorin ring finger protein 2 gene DOID:0080549 Noonan syndrome with multiple lentigines 2 ISO RGD:1321625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 2 11826950 MKRN2 makorin ring finger protein 2 gene DOID:0080690 RASopathy ISO RGD:1321625 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11826950 MKRN2 makorin ring finger protein 2 gene DOID:630 genetic disease ISO RGD:1321625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11826963 SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 11826963 SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1315310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 11826963 SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1315310 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 11826963 SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1315310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11826963 SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1315310 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 11826963 SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 11826963 SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1315310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 11826963 SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:630 genetic disease ISO RGD:1315310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11826963 SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:9007188 Liver Neoplasms ISO RGD:1315310 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11826963 SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:1315310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 11826975 PLA2G12A phospholipase A2 group XIIA gene DOID:630 genetic disease ISO RGD:1312232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11826975 PLA2G12A phospholipase A2 group XIIA gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11826983 TCTN2 tectonic family member 2 gene DOID:0050777 Joubert syndrome ISO RGD:1605624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:17576681|PMID:21462283|PMID:21565611|PMID:22331178|PMID:23169490|PMID:24033266|PMID:25118024|PMID:25640679|PMID:25741868|PMID:26092869|PMID:26729329|PMID:28492532|PMID:28771248|PMID:31428121|PMID:9536098 11826983 TCTN2 tectonic family member 2 gene DOID:0050778 Meckel syndrome ISO RGD:1605624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25741868|PMID:28492532 11826983 TCTN2 tectonic family member 2 gene DOID:0070120 Meckel syndrome 6 ISO RGD:1605624 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 6 PMID:16199547|PMID:21462283|PMID:21565611|PMID:23169490|PMID:25741868|PMID:26729329|PMID:28492532|PMID:31428121 11826983 TCTN2 tectonic family member 2 gene DOID:0070122 Meckel syndrome 8 ISO RGD:1605624 D RGD:7240710 20180130 OMIM 11826983 TCTN2 tectonic family member 2 gene DOID:0070122 Meckel syndrome 8 ISO RGD:1605624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 8 | ClinVar Annotator: match by term: TCTN2-Related Disorders PMID:16199547|PMID:17576681|PMID:21462283|PMID:21565611|PMID:22331178|PMID:23169490|PMID:25118024|PMID:25741868|PMID:26092869|PMID:26729329|PMID:28492532|PMID:31428121|PMID:9536098 11826983 TCTN2 tectonic family member 2 gene DOID:0070134 autosomal recessive cutis laxa type IIA ISO RGD:1605624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa with osteodystrophy PMID:25741868 11826983 TCTN2 tectonic family member 2 gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:1605624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:28492532 11826983 TCTN2 tectonic family member 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1605624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis PMID:16199547|PMID:17576681|PMID:21565611|PMID:22331178|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26092869|PMID:28492532|PMID:28771248|PMID:9536098 11826983 TCTN2 tectonic family member 2 gene DOID:0110993 Joubert syndrome 24 ISO RGD:1605624 D RGD:7240710 20180130 OMIM 11826983 TCTN2 tectonic family member 2 gene DOID:0110993 Joubert syndrome 24 ISO RGD:1605624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 24 PMID:17576681|PMID:21462283|PMID:21565611|PMID:22331178|PMID:25118024|PMID:25741868|PMID:26092869|PMID:28492532|PMID:9536098 11826983 TCTN2 tectonic family member 2 gene DOID:10907 microcephaly ISO RGD:1605624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11826983 TCTN2 tectonic family member 2 gene DOID:630 genetic disease ISO RGD:1605624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11826983 TCTN2 tectonic family member 2 gene DOID:9002034 Autosomal Recessive Cutis Laxa ISO RGD:1605624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, recessive PMID:25741868|PMID:28492532 11827008 DSG2 desmoglein 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1322446 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:18382419|PMID:18632414|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:23071725|PMID:23299917|PMID:23381804|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:25087486|PMID:25172079|PMID:25213555|PMID:25332820|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26899768|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28255936|PMID:28283360|PMID:28341588|PMID:28492532|PMID:28578331|PMID:28818065|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29544605|PMID:30454721|PMID:30790397|PMID:30885746|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31568572 11827008 DSG2 desmoglein 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1322446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:18382419|PMID:18632414|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:23071725|PMID:23137101|PMID:23299917|PMID:23381804|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25087486|PMID:25172079|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26688388|PMID:26899768|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28255936|PMID:28283360|PMID:28323875|PMID:28341588|PMID:28471438|PMID:28492532|PMID:28578331|PMID:28818065|PMID:28878402|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29343803|PMID:29396286|PMID:29544605|PMID:29606362|PMID:29759408|PMID:30454721|PMID:30790397|PMID:30847666|PMID:30885746|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31645976|PMID:31845994|PMID:31983221|PMID:32746448|PMID:32880476|PMID:33232181|PMID:33652588|PMID:33673806|PMID:34012299|PMID:34036930|PMID:34317382|PMID:35087879|PMID:35300203 11827008 DSG2 desmoglein 2 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis PMID:28492532 11827008 DSG2 desmoglein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1322446 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26230511|PMID:26633542|PMID:26656175|PMID:26822237|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28166811|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28600387|PMID:28818065|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29773157|PMID:29802319|PMID:30454721|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30885746|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:33087929|PMID:9536098 11827008 DSG2 desmoglein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1322446 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26633542|PMID:26656175|PMID:26822237|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28600387|PMID:28818065|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29456632|PMID:29773157|PMID:29802319|PMID:30391969|PMID:30454721|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30885746|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31983221|PMID:32659924|PMID:33087929|PMID:33238575|PMID:9536098 11827008 DSG2 desmoglein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1322446 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26633542|PMID:26656175|PMID:26822237|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28600387|PMID:28818065|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29456632|PMID:29773157|PMID:29802319|PMID:30391969|PMID:30454721|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30885746|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31983221|PMID:32659924|PMID:33087929|PMID:33238575|PMID:33652588|PMID:33949662|PMID:35087879|PMID:9536098 11827008 DSG2 desmoglein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1322446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29606362|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29899727|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32102357|PMID:32516855|PMID:32659924|PMID:32665702|PMID:32746448|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33652588|PMID:33673806|PMID:33949662|PMID:34012299|PMID:34036930|PMID:34317382|PMID:35087879|PMID:35300203|PMID:35819174|PMID:9536098 11827008 DSG2 desmoglein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1322446 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29606362|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29899727|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32516855|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32746448|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33652588|PMID:33673806|PMID:33949662|PMID:34012299|PMID:34036930|PMID:34317382|PMID:34426522|PMID:35087879|PMID:35300203|PMID:35819174|PMID:9536098 11827008 DSG2 desmoglein 2 gene DOID:0060319 cardiac arrest ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:20400443|PMID:23861362|PMID:24070718|PMID:25741868|PMID:28492532|PMID:28600387 11827008 DSG2 desmoglein 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28492532|PMID:29038103 11827008 DSG2 desmoglein 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1322446 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28492532|PMID:29038103|PMID:35087879 11827008 DSG2 desmoglein 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1322446 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28492532|PMID:29038103|PMID:35087879 11827008 DSG2 desmoglein 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1322446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:21606396|PMID:23396983|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28492532|PMID:29038103|PMID:29517769|PMID:30847666|PMID:35087879 11827008 DSG2 desmoglein 2 gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:1322446 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20129281|PMID:20603720|PMID:20829228|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23071725|PMID:23299917|PMID:23671136|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24436435|PMID:24704780|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:26138720|PMID:26230511|PMID:26899768|PMID:28492532|PMID:29062102|PMID:35819174 11827008 DSG2 desmoglein 2 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1322446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:16199547|PMID:16773573|PMID:17105751|PMID:19151369|PMID:19863551|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20857253|PMID:23671136|PMID:24033266|PMID:25741868|PMID:25820315|PMID:27532257|PMID:28283360|PMID:28492532|PMID:28600387|PMID:30731207|PMID:30790397|PMID:31386562|PMID:31402444|PMID:33238575 11827008 DSG2 desmoglein 2 gene DOID:0110081 arrhythmogenic right ventricular dysplasia 10 ISO RGD:1322446 D RGD:7240710 20180130 OMIM 11827008 DSG2 desmoglein 2 gene DOID:0110081 arrhythmogenic right ventricular dysplasia 10 ISO RGD:1322446 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22036071|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23128240|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24086444|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24585727|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28283360|PMID:28288337|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28611029|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29544605|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29790872|PMID:29802319|PMID:29899727|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32516855|PMID:32569162|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32746448|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33500567|PMID:33652588|PMID:33673806|PMID:33789662|PMID:34012299|PMID:34036930|PMID:34317382|PMID:34426522|PMID:35087879|PMID:35300203|PMID:35819174|PMID:9536098 11827008 DSG2 desmoglein 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1322446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:21606396|PMID:23396983|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28492532|PMID:29038103|PMID:29517769|PMID:30847666|PMID:35087879 11827008 DSG2 desmoglein 2 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868|PMID:28492532 11827008 DSG2 desmoglein 2 gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1322446 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868 11827008 DSG2 desmoglein 2 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:18639457|PMID:20031616|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28600387|PMID:30885746|PMID:31402444 11827008 DSG2 desmoglein 2 gene DOID:0110458 dilated cardiomyopathy 1BB ISO RGD:1322446 D RGD:7240710 20180130 OMIM 11827008 DSG2 desmoglein 2 gene DOID:0110458 dilated cardiomyopathy 1BB ISO RGD:1322446 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1BB | ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy PMID:12586364|PMID:16199547|PMID:16773573|PMID:17105751|PMID:17576681|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21859740|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25209314|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26498160|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:27055156|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28341588|PMID:28471438|PMID:28492532|PMID:28588093|PMID:28600387|PMID:28818065|PMID:29038103|PMID:29178656|PMID:29343803|PMID:29456632|PMID:29544605|PMID:29790872|PMID:29802319|PMID:29899727|PMID:30177324|PMID:30391969|PMID:30790397|PMID:30885746|PMID:31019283|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31542937|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32102357|PMID:32569162|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32746448|PMID:33029862|PMID:33232181|PMID:33500567|PMID:33652588|PMID:33673806|PMID:33949662|PMID:34317382|PMID:35087879|PMID:35300203|PMID:9536098 11827008 DSG2 desmoglein 2 gene DOID:1059 intellectual disability ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11827008 DSG2 desmoglein 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1322446 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:20400443|PMID:21220045|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:25213555|PMID:25741868|PMID:27055156|PMID:28492532|PMID:28600387|PMID:29456632|PMID:32659924 11827008 DSG2 desmoglein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28087566|PMID:28492532|PMID:29802319|PMID:30885746 11827008 DSG2 desmoglein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1322446 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28087566|PMID:28492532|PMID:28600387|PMID:29802319|PMID:30885746 11827008 DSG2 desmoglein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1322446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28087566|PMID:28323875|PMID:28492532|PMID:28600387|PMID:29802319|PMID:30885746|PMID:31983221 11827008 DSG2 desmoglein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1322446 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28087566|PMID:28323875|PMID:28492532|PMID:28600387|PMID:29016939|PMID:29802319|PMID:30885746|PMID:31983221 11827008 DSG2 desmoglein 2 gene DOID:2843 long QT syndrome ISO RGD:1322446 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28492532|PMID:29038103|PMID:35087879 11827008 DSG2 desmoglein 2 gene DOID:397 restrictive cardiomyopathy ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 11827008 DSG2 desmoglein 2 gene DOID:630 genetic disease ISO RGD:1322446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11827008 DSG2 desmoglein 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:24033266|PMID:25741868|PMID:28492532 11827008 DSG2 desmoglein 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation 11827008 DSG2 desmoglein 2 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1322446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572|PMID:9536098 11827008 DSG2 desmoglein 2 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1322446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:21606396|PMID:25741868|PMID:28492532|PMID:29517769|PMID:30847666 11827008 DSG2 desmoglein 2 gene DOID:9003163 Heart Block ISO RGD:1322446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:21606396|PMID:25741868|PMID:28492532|PMID:29517769|PMID:30847666 11827008 DSG2 desmoglein 2 gene DOID:9003936 Cardiomegaly ISO RGD:1311143 D RGD:9068941 20230420 RGD protein:increased expression:heart (rat) PMID:26708424|REF_RGD_ID:264347602 11827008 DSG2 desmoglein 2 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:25741868 11827027 XPO4 exportin 4 gene DOID:0110253 cataract 14 multiple types ISO RGD:1323777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types PMID:28492532 11827027 XPO4 exportin 4 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1323777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:28492532 11827027 XPO4 exportin 4 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1323777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:28492532 11827027 XPO4 exportin 4 gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:1323777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:28492532 11827027 XPO4 exportin 4 gene DOID:14693 Clouston syndrome ISO RGD:1323777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia PMID:28492532 11827027 XPO4 exportin 4 gene DOID:2121 ectodermal dysplasia ISO RGD:1323777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 11827027 XPO4 exportin 4 gene DOID:630 genetic disease ISO RGD:1323777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:0050152 aspiration pneumonia ISO RGD:619869 D RGD:9068941 20200609 RGD PMID:19515386|REF_RGD_ID:4891456 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:0060496 respiratory allergy ISO RGD:1343759 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23056391 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:0080599 Coronavirus infectious disease ISO RGD:621812 D RGD:9068941 20200609 RGD PMID:17804032|REF_RGD_ID:5135236 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:0080600 COVID-19 ISO RGD:1343759 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:619869 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreatic acinar cell PMID:19818401|REF_RGD_ID:5135004 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:10247 pleurisy ISO RGD:732415 D RGD:9068941 20200609 RGD PMID:14527170|REF_RGD_ID:5135449 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:10457 Legionnaires' disease ISO RGD:732415 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:11254553|REF_RGD_ID:5135252 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:10459 common cold ISO RGD:1343759 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:respiratory epithelial cell PMID:20395558|REF_RGD_ID:4145446 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:10533 viral pneumonia ISO RGD:619869 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:19671179|REF_RGD_ID:5134975 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:619869 D RGD:9068941 20200609 RGD PMID:19951473|REF_RGD_ID:5134972 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:1205 allergic disease ISO RGD:1343759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:732415 D RGD:9068941 20200609 RGD mRNA:increased expression:blood PMID:20843364|REF_RGD_ID:5134958 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:619869 D RGD:9068941 20200609 RGD mRNA:increased expression:left ventricle myocardium PMID:20868517|REF_RGD_ID:5134996 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:14654 prostatitis treatment ISO RGD:619869 D RGD:9068941 20210723 RGD PMID:21254154|REF_RGD_ID:5134993 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:1485 cystic fibrosis ISO RGD:1343759 D RGD:9068941 20200609 RGD PMID:19597126|REF_RGD_ID:5135456 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:1485 cystic fibrosis ISO RGD:1343759 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:20818377|REF_RGD_ID:5135034 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:1485 cystic fibrosis ISO RGD:732415 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:20818377|REF_RGD_ID:5135034 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:1824 status epilepticus ISO RGD:619869 D RGD:9068941 20200609 RGD protein:increased expression:brain, neuron, endothelial cell PMID:21535896|REF_RGD_ID:5134992 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:2048 autoimmune hepatitis ISO RGD:1343759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:2841 asthma severity ISO RGD:1343759 D RGD:9068941 20200609 RGD PMID:20371397|REF_RGD_ID:5134983 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1614055 D RGD:9068941 20200609 RGD mRNA:altered expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:619869 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:19741068|REF_RGD_ID:4143520 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:3021 acute kidney failure ISO RGD:732415 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney, liver, spleen PMID:21677145|REF_RGD_ID:7175314 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1343759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23099361 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1343759 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20858153|REF_RGD_ID:4890939 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:3482 plague ISO RGD:732415 D RGD:9068941 20200609 RGD PMID:21356370|REF_RGD_ID:5134954 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:5041 esophageal cancer ISO RGD:619869 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20232121|REF_RGD_ID:5134997 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:552 pneumonia ISO RGD:1343759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:552 pneumonia ISO RGD:619869 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:20728373|REF_RGD_ID:5134959 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:630 genetic disease ISO RGD:1343759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1343759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:850 lung disease ISO RGD:619869 D RGD:9068941 20200609 RGD Lung Injury PMID:19515386|REF_RGD_ID:4891456 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:850 lung disease ISO RGD:619869 D RGD:9068941 20200609 RGD Ventilator-Induced Lung Injury;protein:increased expression:respiratory system fluid/secretion PMID:21048090|REF_RGD_ID:5134956 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:850 lung disease ISO RGD:619869 D RGD:9068941 20200609 RGD associated with Pancreatitis;protein:increased expression:lung PMID:20709317|REF_RGD_ID:5134961 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:850 lung disease ISO RGD:619869 D RGD:9068941 20200609 RGD associated with Sepsis;protein:increased expression:plasma, respiratory system fluid/secretion PMID:20724665|REF_RGD_ID:5134960 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:850 lung disease ISO RGD:732415 D RGD:9068941 20200609 RGD Acute Lung Injury;protein:increased expression:serum PMID:19590302|REF_RGD_ID:5134978 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:850 lung disease ISO RGD:732415 D RGD:9068941 20200609 RGD associated with Pneumonia, Viral;protein:increased expression:respiratory system fluid/secretion, neutrophil PMID:21743025|REF_RGD_ID:5135060 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:850 lung disease ISO RGD:732415 D RGD:9068941 20200609 RGD associated with Pseudomonas Infections;mRNA:increased expression:lung PMID:19056659|REF_RGD_ID:5134979 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:850 lung disease ISO RGD:732415 D RGD:9068941 20200609 RGD associated with Reperfusion Injury PMID:19558673|REF_RGD_ID:4891479 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:874 bacterial pneumonia ISO RGD:619869 D RGD:9068941 20200609 RGD PMID:11052817|REF_RGD_ID:5135234 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:874 bacterial pneumonia ISO RGD:621812 D RGD:9068941 20200609 RGD PMID:11052817|REF_RGD_ID:5135234 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:874 bacterial pneumonia ISO RGD:732415 D RGD:9068941 20200609 RGD PMID:21723409|REF_RGD_ID:5135062 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:619869 D RGD:9068941 20200609 RGD PMID:9698165|REF_RGD_ID:5135274 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:619869 D RGD:9068941 20200609 RGD PMID:21109308|REF_RGD_ID:5134982 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:619869 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:20731855|REF_RGD_ID:4145368 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9000669 Ventricular Dysfunction, Right ISO RGD:619869 D RGD:9068941 20200609 RGD associated with Pulmonary Embolism;mRNA:increased expression:heart right ventricle PMID:19620882|REF_RGD_ID:5135007 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9000722 Animal Hepatitis ISO RGD:619869 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:18642776|REF_RGD_ID:2307010 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1343759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12388339 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9000998 Brain Injuries ISO RGD:619869 D RGD:9068941 20200609 RGD mRNA:increased expression:choroid plexus, cerebral cortex PMID:19471279|REF_RGD_ID:5135009 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1343759 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:619869 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:10498645|REF_RGD_ID:5135271 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9001472 Nasal Polyps ISO RGD:1343759 D RGD:9068941 20200609 RGD associated with Sinusitis;mRNA:increased expression:respiratory system mucosa PMID:19178793|REF_RGD_ID:5134986 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9001488 Human Influenza ISO RGD:732415 D RGD:9068941 20200609 RGD protein:increased expression:lung, serum PMID:17348295|REF_RGD_ID:4145366 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9001488 Human Influenza ISO RGD:732415 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:20656925|REF_RGD_ID:4145452 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9001600 Wounds and Injuries ISO RGD:1343759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:1343759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:619869 D RGD:9068941 20200609 RGD PMID:21168948|REF_RGD_ID:5128673 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:732415 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:20958976|REF_RGD_ID:5134957 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:619869 D RGD:9068941 20200609 RGD PMID:21092002|REF_RGD_ID:5134995 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9002457 Experimental Arthritis ISO RGD:619869 D RGD:9068941 20200609 RGD PMID:19096963|REF_RGD_ID:4889415 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1343759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9004009 Reperfusion Injury ISO RGD:619869 D RGD:9068941 20200609 RGD PMID:10655268|REF_RGD_ID:5135270 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9004009 Reperfusion Injury ISO RGD:732415 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:20160675|REF_RGD_ID:5134970 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9004610 Acute Lung Injury ISO RGD:732415 D RGD:9068941 20200609 RGD associated with Sepsis;mRNA:increased expression:lung PMID:10069420|REF_RGD_ID:5135253 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9005372 Inflammation ISO RGD:619869 D RGD:9068941 20200609 RGD PMID:19497959|PMID:8833037|REF_RGD_ID:4889403|REF_RGD_ID:5135240 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9005372 Inflammation ISO RGD:621812 D RGD:9068941 20200609 RGD PMID:8833037|REF_RGD_ID:5135240 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9005930 Endotoxemia ISO RGD:732415 D RGD:9068941 20200609 RGD mRNA:increased expression:multiple organs PMID:9766630|REF_RGD_ID:5135254 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9007096 Stroke ISO RGD:619869 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:21124781|REF_RGD_ID:5134994 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9007156 Enteritis ISO RGD:619869 D RGD:9068941 20200609 RGD PMID:19148791|REF_RGD_ID:5135011 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1343759 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1343759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16118408 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9007730 Burns ISO RGD:619869 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18391855|REF_RGD_ID:5135231 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9007730 Burns ISO RGD:621812 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18391855|REF_RGD_ID:5135231 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:619869 D RGD:9068941 20200609 RGD PMID:11342480|REF_RGD_ID:5135269 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9008217 Hemorrhage ISO RGD:619869 D RGD:9068941 20200609 RGD associated with Wounds, Penetrating PMID:20117814|REF_RGD_ID:5135001 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9008763 Femoral Fractures ISO RGD:619869 D RGD:9068941 20200609 RGD protein:increased expression:lung, serum PMID:21442011|REF_RGD_ID:5131471 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9279 hyperhomocysteinemia ISO RGD:1343759 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:11950713|REF_RGD_ID:5135249 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9675 pulmonary emphysema ISO RGD:1614055 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17023518|REF_RGD_ID:5135245 11827065 CXCL1 C-X-C motif chemokine ligand 1 gene DOID:9675 pulmonary emphysema ISO RGD:732415 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17023518|REF_RGD_ID:5135245 11827073 SPZ1 spermatogenic leucine zipper 1 gene DOID:630 genetic disease ISO RGD:1606768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11827073 SPZ1 spermatogenic leucine zipper 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1606768 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11827073 SPZ1 spermatogenic leucine zipper 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11827079 C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 gene DOID:0080600 COVID-19 ISO RGD:732029 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11827079 C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 gene DOID:630 genetic disease ISO RGD:732029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11827106 SCML1 Scm polycomb group protein like 1 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1343784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11827106 SCML1 Scm polycomb group protein like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11827106 SCML1 Scm polycomb group protein like 1 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1343784 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:19780792|PMID:21770923|PMID:22872100|PMID:23184456|PMID:25315662|PMID:28492532|PMID:30945684 11827106 SCML1 Scm polycomb group protein like 1 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1343784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11827106 SCML1 Scm polycomb group protein like 1 gene DOID:12849 autistic disorder ISO RGD:1343784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11827106 SCML1 Scm polycomb group protein like 1 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1343784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11827106 SCML1 Scm polycomb group protein like 1 gene DOID:630 genetic disease ISO RGD:1343784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11827106 SCML1 Scm polycomb group protein like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11827127 M6PR mannose-6-phosphate receptor, cation dependent gene DOID:4450 renal cell carcinoma ISO RGD:1354089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 11827127 M6PR mannose-6-phosphate receptor, cation dependent gene DOID:630 genetic disease ISO RGD:1354089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11827127 M6PR mannose-6-phosphate receptor, cation dependent gene DOID:9000217 Stomach Neoplasms ISO RGD:1354089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11827127 M6PR mannose-6-phosphate receptor, cation dependent gene DOID:9000918 Disease Progression ISO RGD:1354089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11827127 M6PR mannose-6-phosphate receptor, cation dependent gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 11827127 M6PR mannose-6-phosphate receptor, cation dependent gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1354089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11827150 RLN1 relaxin 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1344895 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 11827150 RLN1 relaxin 1 gene DOID:630 genetic disease ISO RGD:1344895 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11827150 RLN1 relaxin 1 gene DOID:9000040 Hypertrophy ISO RGD:1344895 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:22028442 11827155 CRYGN crystallin gamma N gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1318382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 11827155 CRYGN crystallin gamma N gene DOID:2843 long QT syndrome ISO RGD:1318382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 11827155 CRYGN crystallin gamma N gene DOID:630 genetic disease ISO RGD:1318382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11827166 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:0040084 Streptococcus pneumonia severity ISO RGD:1318854 D RGD:9068941 20200709 RGD PMID:22492852|REF_RGD_ID:35316076 11827166 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1318853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children PMID:28492532 11827166 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1318853 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:28492532 11827166 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:11476 osteoporosis ISO RGD:1318854 D RGD:9068941 20220825 MouseDO OMIM:166710 11827166 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:13272 Klebsiella pneumonia ISO RGD:1318854 D RGD:9068941 20200723 RGD mRNA:increased expression:lung (mouse) PMID:20864681|REF_RGD_ID:36049798 11827166 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:13272 Klebsiella pneumonia severity ISO RGD:1318854 D RGD:9068941 20200709 RGD PMID:22729155|REF_RGD_ID:35316077 11827166 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:2841 asthma ISO RGD:1318853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 5 PMID:17503328 11827166 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:2841 asthma susceptibility ISO RGD:1318853 D RGD:7240710 20190502 OMIM 11827166 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1318853 D RGD:9068941 20200723 RGD mRNA:increased expression:lung (human) PMID:21278795|REF_RGD_ID:36049796 11827166 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:399 tuberculosis ISO RGD:1318853 D RGD:9068941 20200723 RGD mRNA, protein:increased expression:sputum (human) PMID:19535630|REF_RGD_ID:36049800 11827166 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:5052 melioidosis ISO RGD:1318853 D RGD:9068941 20200723 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:19114913|REF_RGD_ID:36049801 11827166 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:630 genetic disease ISO RGD:1318853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11827166 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:874 bacterial pneumonia ISO RGD:1318854 D RGD:9068941 20200723 RGD PMID:20439918|PMID:28120642|REF_RGD_ID:34888234|REF_RGD_ID:36049799 11827166 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:9000109 Haemophilus Infections severity ISO RGD:1318854 D RGD:9068941 20200709 RGD PMID:25585690|REF_RGD_ID:11527046 11827166 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:9000684 Porcine Reproductive and Respiratory Syndrome ISO RGD:14200541 D RGD:9068941 20200723 RGD mRNA:increased expression:peripheral blood mononuclear cell (pig) PMID:26022073|REF_RGD_ID:36049793 11827166 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:9002786 Surgical Wound Infection ISO RGD:1318853 D RGD:9068941 20200709 RGD associated with colorectal cancer; mRNA:increased expression: plasma, leukocyte (human) PMID:28214365|REF_RGD_ID:34888232 11827166 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:9002827 Porcine Postweaning Multisystemic Wasting Syndrome ISO RGD:14200541 D RGD:9068941 20200723 RGD associated with Porcine Reproductive and Respiratory Syndrome; mRNA:decreased expression:peripheral blood mononuclear cell (pig) PMID:26022073|REF_RGD_ID:36049793 11827166 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:9002953 Escherichia Coli Infections treatment ISO RGD:14200541 D RGD:9068941 20200723 RGD PMID:27832756|REF_RGD_ID:34888235 11827166 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:9003690 Carcinoma, Lewis Lung ISO RGD:1318853 D RGD:9068941 20200723 RGD PMID:21278795|REF_RGD_ID:36049796 11827166 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:9004009 Reperfusion Injury ISO RGD:1318853 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25780291 11827166 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:9004610 Acute Lung Injury ISO RGD:1318854 D RGD:9068941 20200723 RGD mRNA, protein:increased expression:lung (mouse) PMID:21577093|REF_RGD_ID:36049795 11827166 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:9005930 Endotoxemia ISO RGD:1318853 D RGD:9068941 20200723 RGD mRNA, protein:increased expression:blood (human) PMID:17982103|REF_RGD_ID:36049802 11827166 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:9006493 Glandular and Epithelial Neoplasms ISO RGD:1318854 D RGD:9068941 20200709 RGD associated with ulcerative colitis;mRNA, protein:decreased expression:colon (mouse) PMID:28713897|REF_RGD_ID:34888231 11827166 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:9007417 Pseudomonas Infections severity ISO RGD:1318854 D RGD:9068941 20200723 RGD associated with Sepsis PMID:16917541|REF_RGD_ID:36049803 11827166 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:9008885 Staphylococcal Infections treatment ISO RGD:1318854 D RGD:9068941 20200709 RGD PMID:28954388|REF_RGD_ID:34888230 11827166 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1318854 D RGD:9068941 20220825 MouseDO OMIM:222100 11827185 MSL3 MSL complex subunit 3 gene DOID:0050735 X-linked monogenic disease ISO RGD:1605696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30224647 11827185 MSL3 MSL complex subunit 3 gene DOID:0111838 Basilicata-Akhtar syndrome ISO RGD:1605696 D RGD:7240710 20191002 OMIM 11827185 MSL3 MSL complex subunit 3 gene DOID:0111838 Basilicata-Akhtar syndrome ISO RGD:1605696 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Basilicata-Akhtar syndrome PMID:25741868|PMID:30224647|PMID:33173220 11827185 MSL3 MSL complex subunit 3 gene DOID:0112018 non-syndromic X-linked intellectual disability 104 ISO RGD:1605696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 11827185 MSL3 MSL complex subunit 3 gene DOID:1059 intellectual disability ISO RGD:1605696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:30224647 11827185 MSL3 MSL complex subunit 3 gene DOID:12849 autistic disorder ISO RGD:1605696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11827185 MSL3 MSL complex subunit 3 gene DOID:13938 amenorrhea ISO RGD:1605696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11827185 MSL3 MSL complex subunit 3 gene DOID:630 genetic disease ISO RGD:1605696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16227571|PMID:30224647 11827185 MSL3 MSL complex subunit 3 gene DOID:9001487 Facies ISO RGD:1605696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30224647 11827185 MSL3 MSL complex subunit 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11827185 MSL3 MSL complex subunit 3 gene DOID:9006230 Neurologic Gait Disorders ISO RGD:1605696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30224647 11827185 MSL3 MSL complex subunit 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1605696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30224647 11827185 MSL3 MSL complex subunit 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1605696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30224647 11827205 LYPLAL1 lysophospholipase like 1 gene DOID:0050439 Usher syndrome ISO RGD:1322525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 11827205 LYPLAL1 lysophospholipase like 1 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1322525 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 11827205 LYPLAL1 lysophospholipase like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1322525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11827205 LYPLAL1 lysophospholipase like 1 gene DOID:630 genetic disease ISO RGD:1322525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11827205 LYPLAL1 lysophospholipase like 1 gene DOID:9006949 Martsolf Syndrome ISO RGD:1322525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 11827205 LYPLAL1 lysophospholipase like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:0050854 Muckle-Wells syndrome ISO RGD:1318014 D RGD:7240710 20180130 OMIM 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:0050854 Muckle-Wells syndrome ISO RGD:1318014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar Annotator: match by term: UDA syndrome PMID:11687797|PMID:11992256|PMID:12032915|PMID:12355493|PMID:12522564|PMID:14630794|PMID:14872505|PMID:15020601|PMID:15593220|PMID:16100350|PMID:16255047|PMID:16646042|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17393462|PMID:17509468|PMID:18263599|PMID:18311798|PMID:19319132|PMID:19501000|PMID:20159265|PMID:20182451|PMID:20472245|PMID:21058222|PMID:21109514|PMID:21245836|PMID:21356079|PMID:21621776|PMID:21702021|PMID:22128899|PMID:22193915|PMID:22403613|PMID:22524199|PMID:22529966|PMID:22566169|PMID:22843550|PMID:22935299|PMID:23015306|PMID:23421920|PMID:23442610|PMID:23703389|PMID:24033266|PMID:24098386|PMID:24123366|PMID:24135410|PMID:24158955|PMID:24365011|PMID:24431285|PMID:24517500|PMID:24649046|PMID:24759409|PMID:24773462|PMID:25038238|PMID:25586466|PMID:25596455|PMID:25639832|PMID:25730877|PMID:25741868|PMID:25766347|PMID:25821352|PMID:25979514|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26218404|PMID:26245507|PMID:26273672|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26535712|PMID:26590045|PMID:26848126|PMID:26931528|PMID:27036377|PMID:27060062|PMID:27612399|PMID:27819323|PMID:27943240|PMID:27943647|PMID:27994174|PMID:28028683|PMID:28137891|PMID:28185410|PMID:28421071|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29159471|PMID:29322034|PMID:29922587|PMID:29977033|PMID:30214525|PMID:30407166|PMID:30431487|PMID:30808881|PMID:32082075|PMID:32199921|PMID:33329557|PMID:49161 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:0060500 drug allergy ISO RGD:1318014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19767079 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1318015 D RGD:9068941 20220825 MouseDO OMIM:613282 | OMIM:613387 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:0080270 autosomal dominant nonsyndromic deafness 34 ISO RGD:1318014 D RGD:7240710 20190315 OMIM 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:0080270 autosomal dominant nonsyndromic deafness 34 ISO RGD:1318014 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 34, with or without inflammation PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27612399|PMID:27994174|PMID:28492532|PMID:28692792|PMID:28847925|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:33329557|PMID:49161 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1318014 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868|PMID:28492532 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1318014 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:0090029 CINCA syndrome ISO RGD:1318014 D RGD:7240710 20180808 OMIM 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:0090029 CINCA syndrome ISO RGD:1318014 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 3 | ClinVar Annotator: match by term: Chronic Infantile Neurological Cutaneous Articular syndrome | ClinVar Annotator: match by term: Chronic infantile neurological, cutaneous and articular syndrome | ClinVar Annotator: match by term: Prieur Griscelli syndrome PMID:11687797|PMID:11992256|PMID:12032915|PMID:12355493|PMID:12522564|PMID:14630794|PMID:14872505|PMID:15020601|PMID:15593220|PMID:15801036|PMID:16081838|PMID:16100350|PMID:16255047|PMID:16449034|PMID:16871551|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17393462|PMID:17509468|PMID:17576681|PMID:18080732|PMID:18263599|PMID:18311798|PMID:19319132|PMID:19501000|PMID:20159265|PMID:20182451|PMID:20472245|PMID:21109514|PMID:21245836|PMID:21356079|PMID:21621776|PMID:21702021|PMID:22128899|PMID:22193915|PMID:22403613|PMID:22512814|PMID:22524199|PMID:22529966|PMID:22566169|PMID:22661645|PMID:22843550|PMID:22935299|PMID:23015306|PMID:23421920|PMID:23442610|PMID:24033266|PMID:24098386|PMID:24123366|PMID:24135410|PMID:24158955|PMID:24365011|PMID:24431285|PMID:24517500|PMID:24649046|PMID:24759409|PMID:24773462|PMID:25038238|PMID:25417688|PMID:25586466|PMID:25596455|PMID:25639832|PMID:25730877|PMID:25732894|PMID:25741868|PMID:25766347|PMID:25821352|PMID:25979514|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26218404|PMID:26245507|PMID:26273672|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26535712|PMID:26590045|PMID:26848126|PMID:26931528|PMID:27036377|PMID:27060062|PMID:27134254|PMID:27612399|PMID:27819323|PMID:27943240|PMID:27943647|PMID:27994174|PMID:28028683|PMID:28137891|PMID:28185410|PMID:28421071|PMID:28492532|PMID:28692792|PMID:28956000|PMID:29047407|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29159471|PMID:29163488|PMID:29239927|PMID:29922587|PMID:29977033|PMID:30214525|PMID:30407166|PMID:30431487|PMID:30808881|PMID:31155445|PMID:32082075|PMID:32199921|PMID:33329557|PMID:49161|PMID:5173311|PMID:9536098 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:0090061 familial cold autoinflammatory syndrome ISO RGD:1318014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28492532|PMID:28692792|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:49161 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:0090062 familial cold autoinflammatory syndrome 1 ISO RGD:1318014 D RGD:7240710 20180130 OMIM 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:0090062 familial cold autoinflammatory syndrome 1 ISO RGD:1318014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1 | ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 1 PMID:11687797|PMID:11992256|PMID:12032915|PMID:12355493|PMID:12483741|PMID:12522564|PMID:14630794|PMID:14872505|PMID:15020601|PMID:15231984|PMID:15334500|PMID:15593220|PMID:15724022|PMID:15801036|PMID:16081838|PMID:16100350|PMID:16255047|PMID:16449034|PMID:16646042|PMID:16802372|PMID:16871551|PMID:16920754|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17284928|PMID:17393462|PMID:17509468|PMID:17513575|PMID:18063752|PMID:18080732|PMID:18174231|PMID:18263599|PMID:18311798|PMID:19319132|PMID:19501000|PMID:20131270|PMID:20159265|PMID:20182451|PMID:20472245|PMID:21058222|PMID:21109514|PMID:21245836|PMID:21356079|PMID:21621776|PMID:21637346|PMID:21702021|PMID:22128899|PMID:22193915|PMID:22403613|PMID:22512814|PMID:22524199|PMID:22529966|PMID:22566169|PMID:22661645|PMID:22843550|PMID:22935299|PMID:23015306|PMID:23421920|PMID:23442610|PMID:23703389|PMID:24033266|PMID:24098386|PMID:24123366|PMID:24135410|PMID:24158955|PMID:24365011|PMID:24431285|PMID:24517500|PMID:24649046|PMID:24759409|PMID:24773462|PMID:25038238|PMID:25584041|PMID:25586466|PMID:25596455|PMID:25639832|PMID:25730877|PMID:25741868|PMID:25766347|PMID:25821352|PMID:25979514|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26218404|PMID:26245507|PMID:26273672|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26535712|PMID:26590045|PMID:26848126|PMID:26931528|PMID:27036377|PMID:27060062|PMID:27134254|PMID:27191192|PMID:27548431|PMID:27612399|PMID:27650144|PMID:27692610|PMID:27819323|PMID:27943240|PMID:27943647|PMID:27994174|PMID:28028683|PMID:28079503|PMID:28137891|PMID:28185410|PMID:28421071|PMID:28492532|PMID:28501347|PMID:28692792|PMID:29047407|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29152264|PMID:29159471|PMID:29163488|PMID:29322034|PMID:29378952|PMID:29922587|PMID:29977033|PMID:29988644|PMID:30069026|PMID:30214525|PMID:30311386|PMID:30338413|PMID:30407166|PMID:30431487|PMID:30808881|PMID:31172726|PMID:32082075|PMID:32199921|PMID:33020839|PMID:33329557|PMID:34099780|PMID:447320|PMID:49161|PMID:5173311 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1318014 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:12522564|PMID:17509468|PMID:18263599|PMID:18311798|PMID:19319132|PMID:20182451|PMID:21245836|PMID:21621776|PMID:22128899|PMID:22403613|PMID:22524199|PMID:22529966|PMID:22843550|PMID:22935299|PMID:24033266|PMID:24098386|PMID:24158955|PMID:24431285|PMID:24649046|PMID:25586466|PMID:25596455|PMID:25741868|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26273672|PMID:26467025|PMID:26535712|PMID:26848126|PMID:27036377|PMID:27060062|PMID:27819323|PMID:27943647|PMID:28028683|PMID:28137891|PMID:28185410|PMID:28492532|PMID:28692792|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29977033|PMID:30214525 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:10320 asbestosis ISO RGD:1318014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24142982 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:11396 pulmonary edema ISO RGD:1318014 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33012731 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:12351 alcoholic hepatitis treatment ISO RGD:1308314 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1318014 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:12522564|PMID:17509468|PMID:18263599|PMID:18311798|PMID:19319132|PMID:20182451|PMID:21245836|PMID:21621776|PMID:22128899|PMID:22403613|PMID:22524199|PMID:22529966|PMID:22843550|PMID:22935299|PMID:24033266|PMID:24098386|PMID:24158955|PMID:24431285|PMID:24649046|PMID:25586466|PMID:25596455|PMID:25741868|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26273672|PMID:26467025|PMID:26535712|PMID:26848126|PMID:27036377|PMID:27060062|PMID:27819323|PMID:27943647|PMID:28028683|PMID:28137891|PMID:28185410|PMID:28492532|PMID:28692792|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29977033|PMID:30214525 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:1324 lung cancer ISO RGD:1318014 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1318014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:1555 urticaria susceptibility ISO RGD:1318014 D RGD:9068941 20200609 RGD familial cold autoinflammatory syndrome, OMIM:120100;DNA:missense mutations: :multiple PMID:11687797|REF_RGD_ID:1600862 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:1749 squamous cell carcinoma ISO RGD:1318014 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:2280 hidradenitis suppurativa ISO RGD:1318014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:2377 multiple sclerosis ISO RGD:1318014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25458313 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:2723 dermatitis ISO RGD:1318014 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Dermatitis PMID:25741868 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1318014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:11687797|PMID:11992256|PMID:12355493|PMID:12522564|PMID:14630794|PMID:14872505|PMID:15020601|PMID:15593220|PMID:15801036|PMID:16100350|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17393462|PMID:17509468|PMID:17576681|PMID:18263599|PMID:18311798|PMID:19319132|PMID:20131270|PMID:20159265|PMID:20182451|PMID:20472245|PMID:21058222|PMID:21109514|PMID:21245836|PMID:21356079|PMID:21621776|PMID:22128899|PMID:22403613|PMID:22524199|PMID:22529966|PMID:22566169|PMID:22843550|PMID:22935299|PMID:23421920|PMID:23442610|PMID:23703389|PMID:24033266|PMID:24098386|PMID:24123366|PMID:24135410|PMID:24158955|PMID:24431285|PMID:24649046|PMID:24759409|PMID:25038238|PMID:25586466|PMID:25596455|PMID:25639832|PMID:25730877|PMID:25741868|PMID:25821352|PMID:25979514|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26218404|PMID:26245507|PMID:26273672|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26535712|PMID:26848126|PMID:26931528|PMID:27036377|PMID:27060062|PMID:27134254|PMID:27819323|PMID:27943240|PMID:27943647|PMID:27994174|PMID:28028683|PMID:28137891|PMID:28185410|PMID:28421071|PMID:28492532|PMID:28692792|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29159471|PMID:29922587|PMID:29977033|PMID:30214525|PMID:30311386|PMID:30407166|PMID:30808881|PMID:32082075|PMID:32199921|PMID:447320|PMID:49161|PMID:5173311|PMID:9536098 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1318015 D RGD:9068941 20200618 RGD PMID:32365944|REF_RGD_ID:30309207 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:3044 food allergy ISO RGD:1318014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19767079 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:3345 xanthomatosis exacerbates ISO RGD:1318015 D RGD:9068941 20210514 RGD associated with atherosclerosis PMID:30354239|REF_RGD_ID:126925206 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:3602 toxic encephalopathy ISO RGD:1318014 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:32014472 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1318014 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:557 kidney disease ISO RGD:1318014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:11687797|PMID:11992256|PMID:12355493|PMID:12522564|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:26020059|PMID:26218404|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28492532|PMID:28692792|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:49161 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:5844 myocardial infarction ameliorates ISO RGD:1308314 D RGD:9068941 20230330 RGD PMID:33389498|REF_RGD_ID:242905187 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:630 genetic disease ISO RGD:1318014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21058222|PMID:21109514|PMID:24033266|PMID:25741868|PMID:26386126|PMID:28492532 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:6543 acne ISO RGD:1318014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:8553 pyoderma gangrenosum ISO RGD:1318014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:8778 Crohn's disease ISO RGD:1318014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19098911 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:9000972 Fever ISO RGD:1318014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fever 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:9004538 Hearing Loss ISO RGD:1318014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:15593220|PMID:25741868|PMID:28492532|PMID:29922587|PMID:30311386 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:9004610 Acute Lung Injury ISO RGD:1318014 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33012731 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:9004866 Ataxia ISO RGD:1318014 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:32014472 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:9005372 Inflammation ISO RGD:1318014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12032915|PMID:22325453 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:9007278 Anaphylaxis ISO RGD:1318014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19767079 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:9007692 Insulin Resistance ISO RGD:1318014 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35226250 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:9007956 Febrile Seizures treatment ISO RGD:1308314 D RGD:9068941 20200609 RGD PMID:30947016|REF_RGD_ID:25823138 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:9007964 Arsenic Poisoning ISO RGD:1318014 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35226250 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1318014 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar Annotator: match by term: Familial cold urticaria PMID:11687797|PMID:11992256|PMID:12032915|PMID:12355493|PMID:12522564|PMID:14630794|PMID:14872505|PMID:15020601|PMID:15231984|PMID:15593220|PMID:15724022|PMID:15801036|PMID:16081838|PMID:16100350|PMID:16255047|PMID:16802372|PMID:16920754|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17393462|PMID:17509468|PMID:17513575|PMID:17576681|PMID:18263599|PMID:18311798|PMID:19319132|PMID:19501000|PMID:20159265|PMID:20182451|PMID:20472245|PMID:21058222|PMID:21109514|PMID:21245836|PMID:21356079|PMID:21621776|PMID:22128899|PMID:22193915|PMID:22403613|PMID:22512814|PMID:22524199|PMID:22529966|PMID:22566169|PMID:22661645|PMID:22843550|PMID:22935299|PMID:23015306|PMID:23421920|PMID:23442610|PMID:23703389|PMID:24033266|PMID:24098386|PMID:24123366|PMID:24135410|PMID:24158955|PMID:24326009|PMID:24431285|PMID:24649046|PMID:24759409|PMID:24773462|PMID:25038238|PMID:25584041|PMID:25586466|PMID:25596455|PMID:25619352|PMID:25639832|PMID:25730877|PMID:25732894|PMID:25741868|PMID:25821352|PMID:25866490|PMID:25979514|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26218404|PMID:26245507|PMID:26273672|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26535712|PMID:26848126|PMID:26931528|PMID:27036377|PMID:27060062|PMID:27134254|PMID:27191192|PMID:27612399|PMID:27819323|PMID:27943240|PMID:27943647|PMID:27994174|PMID:28028683|PMID:28079503|PMID:28137891|PMID:28166811|PMID:28185410|PMID:28421071|PMID:28492532|PMID:28692792|PMID:28847925|PMID:28956000|PMID:29047407|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29159471|PMID:29611406|PMID:29922587|PMID:29977033|PMID:30214525|PMID:30273710|PMID:30311386|PMID:30407166|PMID:30808881|PMID:31155445|PMID:32082075|PMID:32199921|PMID:33020839|PMID:33329557|PMID:49161|PMID:5173311|PMID:9536098 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1318014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar Annotator: match by term: Familial cold urticaria PMID:11687797|PMID:11992256|PMID:12032915|PMID:12355493|PMID:12483741|PMID:12522564|PMID:14630794|PMID:14872505|PMID:15020601|PMID:15231984|PMID:15334500|PMID:15593220|PMID:15724022|PMID:15801036|PMID:16081838|PMID:16100350|PMID:16255047|PMID:16802372|PMID:16871551|PMID:16920754|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17284928|PMID:17393462|PMID:17509468|PMID:17513575|PMID:17576681|PMID:18063752|PMID:18080732|PMID:18263599|PMID:18311798|PMID:19319132|PMID:19501000|PMID:20131254|PMID:20131270|PMID:20159265|PMID:20182451|PMID:20472245|PMID:21058222|PMID:21109514|PMID:21245836|PMID:21356079|PMID:21621776|PMID:21637346|PMID:21702021|PMID:22128899|PMID:22193915|PMID:22279087|PMID:22403613|PMID:22512814|PMID:22524199|PMID:22529966|PMID:22566169|PMID:22661645|PMID:22843550|PMID:22935299|PMID:23015306|PMID:23421920|PMID:23442610|PMID:23703389|PMID:24033266|PMID:24098386|PMID:24123366|PMID:24135410|PMID:24158955|PMID:24326009|PMID:24365011|PMID:24431285|PMID:24517500|PMID:24649046|PMID:24759409|PMID:24773462|PMID:25038238|PMID:25417688|PMID:25584041|PMID:25586466|PMID:25596455|PMID:25619352|PMID:25639832|PMID:25730877|PMID:25732894|PMID:25741868|PMID:25766347|PMID:25821352|PMID:25866490|PMID:25979514|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26218404|PMID:26245507|PMID:26273672|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26535712|PMID:26590045|PMID:26848126|PMID:26931528|PMID:27036377|PMID:27060062|PMID:27134254|PMID:27191192|PMID:27548431|PMID:27612399|PMID:27650144|PMID:27692610|PMID:27819323|PMID:27943240|PMID:27943647|PMID:27994174|PMID:28028683|PMID:28079503|PMID:28137891|PMID:28185410|PMID:28421071|PMID:28492532|PMID:28501347|PMID:28692792|PMID:28847925|PMID:28956000|PMID:29047407|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29152264|PMID:29159471|PMID:29163488|PMID:29239927|PMID:29322034|PMID:29378952|PMID:29611406|PMID:29922587|PMID:29977033|PMID:29988644|PMID:30069026|PMID:30214525|PMID:30273710|PMID:30311386|PMID:30338413|PMID:30407166|PMID:30431487|PMID:30808881|PMID:31135083|PMID:31155445|PMID:31172726|PMID:32082075|PMID:32199921|PMID:33020839|PMID:33329557|PMID:34099780|PMID:34868041|PMID:49161|PMID:5173311|PMID:9536098 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:9008610 Keratitis Fugax Hereditaria ISO RGD:1318014 D RGD:7240710 20200304 OMIM 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:9008610 Keratitis Fugax Hereditaria ISO RGD:1318014 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: KERATOENDOTHELIITIS FUGAX HEREDITARIA | ClinVar Annotator: match by term: Keratitis fugax hereditaria PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27612399|PMID:27994174|PMID:28492532|PMID:28692792|PMID:29159471|PMID:29366613|PMID:29922587|PMID:30407166|PMID:30808881|PMID:33329557|PMID:3604606|PMID:49161 11827219 NLRP3 NLR family pyrin domain containing 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11827236 MOSPD3 motile sperm domain containing 3 gene DOID:1682 congenital heart disease ISO RGD:1312723 D RGD:9068941 20200609 RGD PMID:15533722|REF_RGD_ID:1582660 11827236 MOSPD3 motile sperm domain containing 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11827236 MOSPD3 motile sperm domain containing 3 gene DOID:630 genetic disease ISO RGD:1312722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11827259 CENPS centromere protein S gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11827259 CENPS centromere protein S gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602808 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11827259 CENPS centromere protein S gene DOID:0111936 immunodeficiency 14 ISO RGD:1602808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 11827278 CBLN3 cerebellin 3 precursor gene DOID:0060439 lysinuric protein intolerance ISO RGD:1343800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11827278 CBLN3 cerebellin 3 precursor gene DOID:630 genetic disease ISO RGD:1343800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11827278 CBLN3 cerebellin 3 precursor gene DOID:9000265 Specific Granule Deficiency ISO RGD:1343800 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11827278 CBLN3 cerebellin 3 precursor gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343800 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11827285 ACACB acetyl-CoA carboxylase beta gene DOID:0060041 autism spectrum disorder ISO RGD:731908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11827285 ACACB acetyl-CoA carboxylase beta gene DOID:0060759 immunodeficiency with hyper IgM type 5 ISO RGD:731908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 PMID:28492532 11827285 ACACB acetyl-CoA carboxylase beta gene DOID:630 genetic disease ISO RGD:731908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11827285 ACACB acetyl-CoA carboxylase beta gene DOID:9006646 Metabolic Syndrome ISO RGD:1619056 D RGD:9068941 20230427 RGD mRNA:increased expression:liver (mouse) PMID:29684438|REF_RGD_ID:329333017 11827285 ACACB acetyl-CoA carboxylase beta gene DOID:9007692 Insulin Resistance ISO RGD:620500 D RGD:9068941 20200609 RGD PMID:16485039|REF_RGD_ID:1625727 11827285 ACACB acetyl-CoA carboxylase beta gene DOID:9007692 Insulin Resistance ISO RGD:731908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22658938 11827285 ACACB acetyl-CoA carboxylase beta gene DOID:9008939 Breast Neoplasms ISO RGD:731908 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35191604 11827285 ACACB acetyl-CoA carboxylase beta gene DOID:9452 fatty liver disease ISO RGD:620500 D RGD:9068941 20200609 RGD PMID:16485039|REF_RGD_ID:1625727 11827285 ACACB acetyl-CoA carboxylase beta gene DOID:9970 obesity ISO RGD:731908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 11827354 LOC100986464 beta-catenin-interacting protein 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1315087 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11827354 LOC100986464 beta-catenin-interacting protein 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1315087 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11827354 LOC100986464 beta-catenin-interacting protein 1 gene DOID:0111936 immunodeficiency 14 ISO RGD:1315087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 11827354 LOC100986464 beta-catenin-interacting protein 1 gene DOID:630 genetic disease ISO RGD:1315087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11827376 SEMA5B semaphorin 5B gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1318955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 11827376 SEMA5B semaphorin 5B gene DOID:630 genetic disease ISO RGD:1318955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11827376 SEMA5B semaphorin 5B gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1318955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 11827376 SEMA5B semaphorin 5B gene DOID:9270 alkaptonuria ISO RGD:1318955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11827427 FANCD2OS FANCD2 opposite strand gene DOID:0060474 familial erythrocytosis 2 ISO RGD:1603367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chuvash polycythemia PMID:10567493|PMID:10830910|PMID:17537157|PMID:19280651|PMID:19764026|PMID:20567917|PMID:28492532|PMID:8634692 11827427 FANCD2OS FANCD2 opposite strand gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1603367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 11827427 FANCD2OS FANCD2 opposite strand gene DOID:0111083 Fanconi anemia complementation group D2 ISO RGD:1603367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group D2 PMID:11239453|PMID:16199547|PMID:16280053|PMID:17436244|PMID:23613520|PMID:24728327|PMID:25741868|PMID:25927356|PMID:28492532|PMID:29625052|PMID:31586946|PMID:32546565|PMID:32581362 11827427 FANCD2OS FANCD2 opposite strand gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1603367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:25741868|PMID:25927356|PMID:28492532 11827427 FANCD2OS FANCD2 opposite strand gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1603367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 11827427 FANCD2OS FANCD2 opposite strand gene DOID:13636 Fanconi anemia ISO RGD:1603367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:11239453|PMID:16199547|PMID:16280053|PMID:17436244|PMID:17576681|PMID:23285130|PMID:24728327|PMID:25741868|PMID:25927356|PMID:28492532|PMID:29625052|PMID:30250602|PMID:30256826|PMID:31586946|PMID:32546565|PMID:9536098 11827427 FANCD2OS FANCD2 opposite strand gene DOID:2394 ovarian cancer ISO RGD:1603367 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 11827427 FANCD2OS FANCD2 opposite strand gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603367 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 11827427 FANCD2OS FANCD2 opposite strand gene DOID:630 genetic disease ISO RGD:1603367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11239453|PMID:17436244|PMID:25741868|PMID:28492532 11827427 FANCD2OS FANCD2 opposite strand gene DOID:687 hepatoblastoma ISO RGD:1603367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 11827427 FANCD2OS FANCD2 opposite strand gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11827427 FANCD2OS FANCD2 opposite strand gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1603367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 11827427 FANCD2OS FANCD2 opposite strand gene DOID:9008086 Developmental Disabilities ISO RGD:1603367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25927356|PMID:28492532 11827427 FANCD2OS FANCD2 opposite strand gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1603367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:25516202|PMID:28492532 11827436 TMEM132D transmembrane protein 132D gene DOID:0060071 pre-malignant neoplasm ISO RGD:1606177 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11827436 TMEM132D transmembrane protein 132D gene DOID:5409 lung small cell carcinoma ISO RGD:1606177 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 11827436 TMEM132D transmembrane protein 132D gene DOID:630 genetic disease ISO RGD:1606177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11827436 TMEM132D transmembrane protein 132D gene DOID:9007188 Liver Neoplasms ISO RGD:1606177 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11827452 SLC41A3 solute carrier family 41 member 3 gene DOID:630 genetic disease ISO RGD:1343810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11827452 SLC41A3 solute carrier family 41 member 3 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1343810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 11827452 SLC41A3 solute carrier family 41 member 3 gene DOID:9270 alkaptonuria ISO RGD:1343810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11827479 PDE6D phosphodiesterase 6D gene DOID:0060476 Perlman syndrome ISO RGD:1314689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11827479 PDE6D phosphodiesterase 6D gene DOID:0110991 Joubert syndrome 22 ISO RGD:1314689 D RGD:7240710 20180130 OMIM 11827479 PDE6D phosphodiesterase 6D gene DOID:0110991 Joubert syndrome 22 ISO RGD:1314689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:17496142|PMID:17576681|PMID:24166846|PMID:25741868|PMID:28492532|PMID:30423442|PMID:9536098 11827479 PDE6D phosphodiesterase 6D gene DOID:630 genetic disease ISO RGD:1314689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11827488 TUT7 terminal uridylyl transferase 7 gene DOID:630 genetic disease ISO RGD:1344359 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11827530 GULP1 GULP PTB domain containing engulfment adaptor 1 gene DOID:50 thyroid gland disease ISO RGD:1314963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 11827530 GULP1 GULP PTB domain containing engulfment adaptor 1 gene DOID:630 genetic disease ISO RGD:1314963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11827530 GULP1 GULP PTB domain containing engulfment adaptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11827530 GULP1 GULP PTB domain containing engulfment adaptor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11827580 GPX4 glutathione peroxidase 4 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:736049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 11827580 GPX4 glutathione peroxidase 4 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:736049 D RGD:9068941 20220630 RGD DNA:SNP:3' utr:c.718T>C (human) PMID:18850177|REF_RGD_ID:152998895 11827580 GPX4 glutathione peroxidase 4 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:736049 D RGD:9068941 20220623 RGD protein:increased expression:oral cavity (human) PMID:28653098|REF_RGD_ID:152995473 11827580 GPX4 glutathione peroxidase 4 gene DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type ISO RGD:736049 D RGD:7240710 20190315 OMIM 11827580 GPX4 glutathione peroxidase 4 gene DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type ISO RGD:736049 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, Sedaghatian type PMID:22529034|PMID:24706940|PMID:25741868|PMID:28492532 11827580 GPX4 glutathione peroxidase 4 gene DOID:10603 glucose intolerance ISO RGD:736049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26042203 11827580 GPX4 glutathione peroxidase 4 gene DOID:11383 cryptorchidism ISO RGD:736049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26050606 11827580 GPX4 glutathione peroxidase 4 gene DOID:12336 male infertility ISO RGD:736049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19417079|PMID:19744930 11827580 GPX4 glutathione peroxidase 4 gene DOID:219 colon cancer disease_progression ISO RGD:736049 D RGD:9068941 20220630 RGD mRNA, protein:increased expression:colon (human) PMID:21868509|REF_RGD_ID:152995496 11827580 GPX4 glutathione peroxidase 4 gene DOID:3717 gastric adenocarcinoma susceptibility ISO RGD:736049 D RGD:9068941 20220630 RGD mRNA:decreased expression:stomach, erythrocyte, lymphocyte (human) PMID:27957666|REF_RGD_ID:152998894 11827580 GPX4 glutathione peroxidase 4 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:736049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 11827580 GPX4 glutathione peroxidase 4 gene DOID:5339 cyclic hematopoiesis ISO RGD:736049 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11827580 GPX4 glutathione peroxidase 4 gene DOID:6000 congestive heart failure ISO RGD:736049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20304815 11827580 GPX4 glutathione peroxidase 4 gene DOID:630 genetic disease ISO RGD:736049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11827580 GPX4 glutathione peroxidase 4 gene DOID:9000784 Fibrosis ISO RGD:736049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26042203 11827580 GPX4 glutathione peroxidase 4 gene DOID:9001191 Cadmium Poisoning ISO RGD:736049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20643113 11827580 GPX4 glutathione peroxidase 4 gene DOID:9004994 Embryo Loss ISO RGD:736049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12566075 11827580 GPX4 glutathione peroxidase 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18850177 11827580 GPX4 glutathione peroxidase 4 gene DOID:9008939 Breast Neoplasms ISO RGD:736049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17634480 11827580 GPX4 glutathione peroxidase 4 gene DOID:9256 colorectal cancer susceptibility ISO RGD:736049 D RGD:9068941 20220623 RGD DNA:silent mutation:CDS: (rs713041) (human) PMID:20378690|REF_RGD_ID:152995451 11827580 GPX4 glutathione peroxidase 4 gene DOID:9452 fatty liver disease ISO RGD:736049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26042203 11827596 LOC100992095 Fc receptor-like protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1323109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11827596 LOC100992095 Fc receptor-like protein 2 gene DOID:630 genetic disease ISO RGD:1323109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11827596 LOC100992095 Fc receptor-like protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11827615 C21H21orf91 chromosome 21 C21orf91 homolog gene DOID:10652 Alzheimer's disease ISO RGD:1352771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 11827615 C21H21orf91 chromosome 21 C21orf91 homolog gene DOID:630 genetic disease ISO RGD:1352771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11827615 C21H21orf91 chromosome 21 C21orf91 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11827725 SLC17A7 solute carrier family 17 member 7 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:733841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11827725 SLC17A7 solute carrier family 17 member 7 gene DOID:11446 sciatic neuropathy ISO RGD:620101 D RGD:9068941 20200609 RGD protein:decreased expression:nucleus accumbens PMID:23835161|REF_RGD_ID:9999206 11827725 SLC17A7 solute carrier family 17 member 7 gene DOID:224 transient cerebral ischemia ISO RGD:620101 D RGD:9068941 20200609 RGD PMID:23458738|REF_RGD_ID:9999193 11827725 SLC17A7 solute carrier family 17 member 7 gene DOID:630 genetic disease ISO RGD:733841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11827725 SLC17A7 solute carrier family 17 member 7 gene DOID:8927 learning disability ISO RGD:733841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21295146 11827725 SLC17A7 solute carrier family 17 member 7 gene DOID:9008023 Memory Disorders ISO RGD:733841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21295146 11827743 LOC100989095 protocadherin beta-3 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1313041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11827743 LOC100989095 protocadherin beta-3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313041 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11827743 LOC100989095 protocadherin beta-3 gene DOID:630 genetic disease ISO RGD:1313041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases 11827743 LOC100989095 protocadherin beta-3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11827743 LOC100989095 protocadherin beta-3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313041 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11827748 POSTN periostin gene DOID:0060500 drug allergy ISO RGD:1313223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18391768 11827748 POSTN periostin gene DOID:0080010 bone structure disease ISO RGD:1313224 D RGD:9068941 20220825 MouseDO 11827748 POSTN periostin gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1313223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18391768 11827748 POSTN periostin gene DOID:10763 hypertension ISO RGD:1305285 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:left ventricle: PMID:21712488|REF_RGD_ID:10041050 11827748 POSTN periostin gene DOID:11650 bronchopulmonary dysplasia ISO RGD:1313223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363622 11827748 POSTN periostin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1313223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641384 11827748 POSTN periostin gene DOID:1474 aggressive periodontitis ISO RGD:1313224 D RGD:9068941 20220825 MouseDO OMIM:170650 | OMIM:608526 11827748 POSTN periostin gene DOID:5082 liver cirrhosis ISO RGD:1313223 D RGD:9068941 20200910 CTD CTD Direct Evidence: marker/mechanism PMID:32344006 11827748 POSTN periostin gene DOID:5199 ureteral obstruction ISO RGD:1313224 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:22167593|REF_RGD_ID:10040972 11827748 POSTN periostin gene DOID:5844 myocardial infarction ISO RGD:1305285 D RGD:9068941 20200609 RGD protein:increased expression:heart: PMID:24212842|REF_RGD_ID:10041024 11827748 POSTN periostin gene DOID:6000 congestive heart failure treatment ISO RGD:1305285 D RGD:9068941 20200609 RGD PMID:15381649|REF_RGD_ID:10040999 11827748 POSTN periostin gene DOID:6000 congestive heart failure treatment ISO RGD:1313223 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:16414453|REF_RGD_ID:10040951 11827748 POSTN periostin gene DOID:630 genetic disease ISO RGD:1313223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11827748 POSTN periostin gene DOID:7693 abdominal aortic aneurysm ISO RGD:1313223 D RGD:9068941 20200609 RGD protein:increased expression:aorta: PMID:24260297|REF_RGD_ID:10041046 11827748 POSTN periostin gene DOID:7693 abdominal aortic aneurysm ISO RGD:1313224 D RGD:9068941 20200609 RGD protein:increased expression:aorta: PMID:24260297|REF_RGD_ID:10041046 11827748 POSTN periostin gene DOID:783 end stage renal disease ISO RGD:1305285 D RGD:9068941 20200609 RGD mRNA,protein:increased expression,increased secretion:kidney,urine: PMID:22167593|REF_RGD_ID:10040972 11827748 POSTN periostin gene DOID:784 chronic kidney disease ISO RGD:1313223 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:22403621|REF_RGD_ID:10041032 11827748 POSTN periostin gene DOID:784 chronic kidney disease ISO RGD:1313223 D RGD:9068941 20200609 RGD protein:increased secretion:urine: PMID:22167593|REF_RGD_ID:10040972 11827748 POSTN periostin gene DOID:824 periodontitis ISO RGD:1305285 D RGD:9068941 20200609 RGD protein:decreased expression:mandible: PMID:24212842|REF_RGD_ID:10041024 11827748 POSTN periostin gene DOID:90 degenerative disc disease ISO RGD:1305285 D RGD:9068941 20200609 RGD protein:increased expression:tail intervertebral disc: PMID:23453657|REF_RGD_ID:10040995 11827748 POSTN periostin gene DOID:90 degenerative disc disease ISO RGD:1313223 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:nucleus pulposus: PMID:23453657|REF_RGD_ID:10040995 11827748 POSTN periostin gene DOID:9001600 Wounds and Injuries ISO RGD:1305285 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:22681660|REF_RGD_ID:10040991 11827748 POSTN periostin gene DOID:9002165 Diabetic Nephropathies ISO RGD:1313224 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:22167593|REF_RGD_ID:10040972 11827748 POSTN periostin gene DOID:9003234 Hypertensive Nephropathy disease_progression ISO RGD:1305285 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:22403621|REF_RGD_ID:10041032 11827748 POSTN periostin gene DOID:9003936 Cardiomegaly severity ISO RGD:1305285 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:left ventricle: PMID:16414453|REF_RGD_ID:10040951 11827748 POSTN periostin gene DOID:9004498 Cumulative Trauma Disorders ISO RGD:1305285 D RGD:9068941 20200609 RGD protein:increased expression:tendon,muscle,nerve: PMID:19620321|REF_RGD_ID:10040958 11827748 POSTN periostin gene DOID:9006182 Carotid Artery Injuries ISO RGD:1305285 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:artery: PMID:15514205|REF_RGD_ID:10040973 11827748 POSTN periostin gene DOID:9006928 Viral Bronchiolitis ISO RGD:1313223 D RGD:9068941 20201023 RGD mRNA,protein:increased expression:nasal mucus PMID:28471975|REF_RGD_ID:38596342 11827748 POSTN periostin gene DOID:9007039 Ventricular Dysfunction ISO RGD:1305285 D RGD:9068941 20200609 RGD PMID:15381649|REF_RGD_ID:10040999 11827748 POSTN periostin gene DOID:9007621 Craniocerebral Trauma ISO RGD:1305285 D RGD:9068941 20200609 RGD PMID:17878602|REF_RGD_ID:10041014 11827748 POSTN periostin gene DOID:9008331 Tendon Injuries ISO RGD:1305285 D RGD:9068941 20200609 RGD protein:increased expression:achilles tendon: PMID:23149902|REF_RGD_ID:10041033 11827748 POSTN periostin gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15731169 11827748 POSTN periostin gene DOID:9008763 Femoral Fractures ISO RGD:1305285 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:bone: PMID:19006175|REF_RGD_ID:10040956 11827748 POSTN periostin gene DOID:971 tendinitis ISO RGD:1305285 D RGD:9068941 20200609 RGD protein:increased expression:peritendon: PMID:19743505|REF_RGD_ID:2314473 11827810 PPP1R26 protein phosphatase 1 regulatory subunit 26 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1352865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 11827810 PPP1R26 protein phosphatase 1 regulatory subunit 26 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1352865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11827810 PPP1R26 protein phosphatase 1 regulatory subunit 26 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1352865 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11827810 PPP1R26 protein phosphatase 1 regulatory subunit 26 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1352865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11827810 PPP1R26 protein phosphatase 1 regulatory subunit 26 gene DOID:0081097 Rafiq syndrome ISO RGD:1352865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11827810 PPP1R26 protein phosphatase 1 regulatory subunit 26 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1352865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 11827810 PPP1R26 protein phosphatase 1 regulatory subunit 26 gene DOID:3652 Leigh disease ISO RGD:1352865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11827810 PPP1R26 protein phosphatase 1 regulatory subunit 26 gene DOID:630 genetic disease ISO RGD:1352865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11827810 PPP1R26 protein phosphatase 1 regulatory subunit 26 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1352865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:28492532|PMID:29907982 11827837 GNRHR gonadotropin releasing hormone receptor gene DOID:0060643 primary sclerosing cholangitis ISO RGD:737339 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:28502477|REF_RGD_ID:14928320 11827837 GNRHR gonadotropin releasing hormone receptor gene DOID:0080454 developmental and epileptic encephalopathy 42 ISO RGD:737339 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42 PMID:11297587|PMID:12107234|PMID:12890567|PMID:19449676|PMID:22035731|PMID:25741868|PMID:28492532 11827837 GNRHR gonadotropin releasing hormone receptor gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:737339 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:10022417|PMID:10084584|PMID:10690855|PMID:12574221|PMID:16968799|PMID:22724017|PMID:22745237|PMID:24732674|PMID:25741868|PMID:26207952|PMID:28492532|PMID:28611058|PMID:29182666|PMID:32870266|PMID:33223529|PMID:9371856|PMID:9425890 11827837 GNRHR gonadotropin releasing hormone receptor gene DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia ISO RGD:737339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated GnRH Deficiency PMID:11397871|PMID:12364481|PMID:12606630|PMID:15240592|PMID:15728205|PMID:16213849|PMID:17161329|PMID:20389088|PMID:20696889|PMID:22745237|PMID:22766261|PMID:23295295|PMID:23341491|PMID:23643382|PMID:25016926|PMID:28492532|PMID:9371856 11827837 GNRHR gonadotropin releasing hormone receptor gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:737339 D RGD:7240710 20180130 OMIM 11827837 GNRHR gonadotropin releasing hormone receptor gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:737339 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia | ClinVar Annotator: match by term: Isolated congenital hypogonadotropic hypogonadism PMID:10022417|PMID:10084584|PMID:10523035|PMID:10690855|PMID:10772899|PMID:10999776|PMID:11318785|PMID:11397842|PMID:11397871|PMID:11994356|PMID:12050282|PMID:12057744|PMID:12107234|PMID:12364481|PMID:12477532|PMID:12568864|PMID:12574221|PMID:12606630|PMID:12679486|PMID:15240592|PMID:15728205|PMID:16213849|PMID:16359986|PMID:16968799|PMID:17235395|PMID:20389088|PMID:20696889|PMID:21645587|PMID:21736917|PMID:22031817|PMID:22405597|PMID:22679506|PMID:22724017|PMID:22745237|PMID:22766261|PMID:22918878|PMID:23155690|PMID:23295295|PMID:23341491|PMID:23643382|PMID:23650335|PMID:24033266|PMID:24732674|PMID:25016926|PMID:25636053|PMID:25741868|PMID:26207952|PMID:26467025|PMID:26708526|PMID:27094476|PMID:27544332|PMID:27884859|PMID:28492532|PMID:28611058|PMID:29182666|PMID:30415482|PMID:30476149|PMID:32870266|PMID:33223529|PMID:7557974|PMID:9371856|PMID:9425890 11827837 GNRHR gonadotropin releasing hormone receptor gene DOID:13938 amenorrhea ISO RGD:737339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:10022417|PMID:10084584|PMID:10523035|PMID:10690855|PMID:12574221|PMID:16968799|PMID:22724017|PMID:22745237|PMID:24732674|PMID:25741868|PMID:26207952|PMID:28492532|PMID:28611058|PMID:29182666|PMID:32870266|PMID:33223529|PMID:9371856|PMID:9425890 11827837 GNRHR gonadotropin releasing hormone receptor gene DOID:1921 Klinefelter syndrome ISO RGD:737339 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:10022417|PMID:10084584|PMID:10690855|PMID:12574221|PMID:16968799|PMID:22724017|PMID:22745237|PMID:24732674|PMID:25741868|PMID:26207952|PMID:28492532|PMID:28611058|PMID:29182666|PMID:32870266|PMID:33223529|PMID:9371856|PMID:9425890 11827837 GNRHR gonadotropin releasing hormone receptor gene DOID:1924 hypogonadism ISO RGD:737339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15625238 11827837 GNRHR gonadotropin releasing hormone receptor gene DOID:5223 infertility ISO RGD:737339 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Infertility PMID:10022417|PMID:10690855|PMID:10999776|PMID:11397842|PMID:11397871|PMID:12057744|PMID:12364481|PMID:12574221|PMID:12679486|PMID:15728205|PMID:17235395|PMID:20389088|PMID:20696889|PMID:21645587|PMID:22745237|PMID:23155690|PMID:23643382|PMID:23650335|PMID:24033266|PMID:25016926|PMID:25741868|PMID:26207952|PMID:28492532|PMID:29182666|PMID:30476149|PMID:33223529|PMID:7557974|PMID:9371856 11827837 GNRHR gonadotropin releasing hormone receptor gene DOID:630 genetic disease ISO RGD:737339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11827837 GNRHR gonadotropin releasing hormone receptor gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:737339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19131502 11827837 GNRHR gonadotropin releasing hormone receptor gene DOID:9001239 Delayed Puberty ISO RGD:737339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Delayed puberty PMID:25636053 11827837 GNRHR gonadotropin releasing hormone receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11827847 KLK10 kallikrein related peptidase 10 gene DOID:0060074 ductal carcinoma in situ disease_progression ISO RGD:1606032 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast PMID:12788170|REF_RGD_ID:2314849 11827847 KLK10 kallikrein related peptidase 10 gene DOID:10283 prostate cancer susceptibility ISO RGD:1606032 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.A50S (human) PMID:11920956|REF_RGD_ID:2314851 11827847 KLK10 kallikrein related peptidase 10 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1606032 D RGD:9068941 20200609 RGD PMID:18766180|REF_RGD_ID:2314846 11827847 KLK10 kallikrein related peptidase 10 gene DOID:363 uterine cancer ISO RGD:1606032 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:endometrium, serum PMID:16647913|REF_RGD_ID:2314848 11827847 KLK10 kallikrein related peptidase 10 gene DOID:630 genetic disease ISO RGD:1606032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11827847 KLK10 kallikrein related peptidase 10 gene DOID:9000217 Stomach Neoplasms ISO RGD:1606032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17182177 11827847 KLK10 kallikrein related peptidase 10 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1606032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20686372 11827847 KLK10 kallikrein related peptidase 10 gene DOID:9003281 Spontaneous Abortions ISO RGD:1606032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11827847 KLK10 kallikrein related peptidase 10 gene DOID:9004207 Testicular Neoplasms ISO RGD:1606032 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:testis PMID:11920956|REF_RGD_ID:2314851 11827847 KLK10 kallikrein related peptidase 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1606032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16800735 11827847 KLK10 kallikrein related peptidase 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1606032 D RGD:9068941 20200609 RGD PMID:17585892|REF_RGD_ID:2314847 11827847 KLK10 kallikrein related peptidase 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1606032 D RGD:9068941 20200609 RGD DNA:hypermethylation:exon (human) PMID:19150938|REF_RGD_ID:2314845 11827847 KLK10 kallikrein related peptidase 10 gene DOID:9008939 Breast Neoplasms severity ISO RGD:1606032 D RGD:9068941 20200609 RGD PMID:12087468|REF_RGD_ID:2314850 11827866 TIA1 TIA1 cytotoxic granule associated RNA binding protein gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1313955 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gower's muscular dystrophy PMID:25741868|PMID:28492532|PMID:28817800|PMID:31996268 11827866 TIA1 TIA1 cytotoxic granule associated RNA binding protein gene DOID:224 transient cerebral ischemia ISO RGD:1305742 D RGD:9068941 20200609 RGD PMID:16055272|REF_RGD_ID:10059581 11827866 TIA1 TIA1 cytotoxic granule associated RNA binding protein gene DOID:630 genetic disease ISO RGD:1313955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11827866 TIA1 TIA1 cytotoxic granule associated RNA binding protein gene DOID:9004406 Amyotrophic Lateral Sclerosis Type 26 ISO RGD:1313955 D RGD:7240710 20210113 OMIM 11827866 TIA1 TIA1 cytotoxic granule associated RNA binding protein gene DOID:9004406 Amyotrophic Lateral Sclerosis Type 26 ISO RGD:1313955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia PMID:28817800 11827866 TIA1 TIA1 cytotoxic granule associated RNA binding protein gene DOID:9008982 Welander Distal Myopathy, Swedish Type ISO RGD:1313955 D RGD:7240710 20180130 OMIM 11827866 TIA1 TIA1 cytotoxic granule associated RNA binding protein gene DOID:9008982 Welander Distal Myopathy, Swedish Type ISO RGD:1313955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Welander distal myopathy PMID:10482271|PMID:16199547|PMID:17576681|PMID:23348830|PMID:23401021|PMID:25741868|PMID:26467025|PMID:26627873|PMID:27282841|PMID:28492532|PMID:28817800|PMID:29216908|PMID:29886022|PMID:31996268|PMID:9536098 11827916 DSN1 DSN1 component of MIS12 kinetochore complex gene DOID:2234 focal epilepsy ISO RGD:1353084 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11827916 DSN1 DSN1 component of MIS12 kinetochore complex gene DOID:630 genetic disease ISO RGD:1353084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11827916 DSN1 DSN1 component of MIS12 kinetochore complex gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1353084 D RGD:9068941 20200609 RGD PMID:30136646|REF_RGD_ID:27372884 11827916 DSN1 DSN1 component of MIS12 kinetochore complex gene DOID:9256 colorectal cancer disease_progression ISO RGD:1353084 D RGD:9068941 20200609 RGD PMID:27329586|REF_RGD_ID:27372885 11827944 KIF26B kinesin family member 26B gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1605983 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11827944 KIF26B kinesin family member 26B gene DOID:10907 microcephaly ISO RGD:1605983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 11827944 KIF26B kinesin family member 26B gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1605983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:29053796 11827944 KIF26B kinesin family member 26B gene DOID:1540 parathyroid carcinoma ISO RGD:1605983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11827944 KIF26B kinesin family member 26B gene DOID:630 genetic disease ISO RGD:1605983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11827944 KIF26B kinesin family member 26B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11827944 KIF26B kinesin family member 26B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11827961 ABCA5 ATP binding cassette subfamily A member 5 gene DOID:630 genetic disease ISO RGD:1300038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24831815 11827961 ABCA5 ATP binding cassette subfamily A member 5 gene DOID:9006967 Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia ISO RGD:1300038 D RGD:7240710 20190315 OMIM 11827961 ABCA5 ATP binding cassette subfamily A member 5 gene DOID:9006967 Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia ISO RGD:1300038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gingival fibromatosis with hypertrichosis PMID:24831815|PMID:25741868 11827961 ABCA5 ATP binding cassette subfamily A member 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1300038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 11828015 NATD1 N-acetyltransferase domain containing 1 gene DOID:630 genetic disease ISO RGD:1606417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11828021 TMEM168 transmembrane protein 168 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11828021 TMEM168 transmembrane protein 168 gene DOID:5419 schizophrenia ISO RGD:1605052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11828021 TMEM168 transmembrane protein 168 gene DOID:630 genetic disease ISO RGD:1605052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11828021 TMEM168 transmembrane protein 168 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11828049 ALDH1A2 aldehyde dehydrogenase 1 family member A2 gene DOID:0050852 limb ischemia ISO RGD:734164 D RGD:9068941 20200609 RGD PMID:26315408|REF_RGD_ID:14367880 11828049 ALDH1A2 aldehyde dehydrogenase 1 family member A2 gene DOID:0060326 myelomeningocele ISO RGD:734163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16237707 11828049 ALDH1A2 aldehyde dehydrogenase 1 family member A2 gene DOID:0080216 duodenal atresia ISO RGD:734164 D RGD:9068941 20200609 RGD mRNA:decreased expression:duodenum PMID:21492869|REF_RGD_ID:14367883 11828049 ALDH1A2 aldehyde dehydrogenase 1 family member A2 gene DOID:0080216 duodenal atresia severity ISO RGD:734164 D RGD:9068941 20200609 RGD PMID:23021139|REF_RGD_ID:14367881 11828049 ALDH1A2 aldehyde dehydrogenase 1 family member A2 gene DOID:0080855 Parkinsonism ISO RGD:734163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25045800 11828049 ALDH1A2 aldehyde dehydrogenase 1 family member A2 gene DOID:11198 DiGeorge syndrome ISO RGD:734164 D RGD:9068941 20200609 RGD PMID:12563036|REF_RGD_ID:734550 11828049 ALDH1A2 aldehyde dehydrogenase 1 family member A2 gene DOID:11198 DiGeorge syndrome ISO RGD:734164 D RGD:9068941 20220825 MouseDO OMIM:188400 11828049 ALDH1A2 aldehyde dehydrogenase 1 family member A2 gene DOID:2717 Bloom syndrome ISO RGD:734163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11828049 ALDH1A2 aldehyde dehydrogenase 1 family member A2 gene DOID:630 genetic disease ISO RGD:734163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11828049 ALDH1A2 aldehyde dehydrogenase 1 family member A2 gene DOID:8398 osteoarthritis ISO RGD:734163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24728293 11828049 ALDH1A2 aldehyde dehydrogenase 1 family member A2 gene DOID:9001909 Diaphragmatic Hernia 4 ISO RGD:734163 D RGD:7240710 20220921 OMIM 11828049 ALDH1A2 aldehyde dehydrogenase 1 family member A2 gene DOID:9001909 Diaphragmatic Hernia 4 ISO RGD:734163 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Diaphragmatic hernia 4, with cardiovascular defects PMID:33565183 11828049 ALDH1A2 aldehyde dehydrogenase 1 family member A2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:734163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16166285 11828049 ALDH1A2 aldehyde dehydrogenase 1 family member A2 gene DOID:9002819 Coronary Occlusion disease_progression ISO RGD:734163 D RGD:9068941 20200609 RGD PMID:26315408|REF_RGD_ID:14367880 11828049 ALDH1A2 aldehyde dehydrogenase 1 family member A2 gene DOID:9002869 Schistosomiasis Mansoni ISO RGD:734164 D RGD:9068941 20200609 RGD mRNA:increased expression:macrophage PMID:22927819|REF_RGD_ID:14367882 11828049 ALDH1A2 aldehyde dehydrogenase 1 family member A2 gene DOID:9256 colorectal cancer ISO RGD:734163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11828072 ERI3 ERI1 exoribonuclease family member 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11828072 ERI3 ERI1 exoribonuclease family member 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1318310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11828072 ERI3 ERI1 exoribonuclease family member 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11828072 ERI3 ERI1 exoribonuclease family member 3 gene DOID:630 genetic disease ISO RGD:1318310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11828107 NFXL1 nuclear transcription factor, X-box binding like 1 gene DOID:13580 cholestasis ISO RGD:1347533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 11828107 NFXL1 nuclear transcription factor, X-box binding like 1 gene DOID:630 genetic disease ISO RGD:1347533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11828107 NFXL1 nuclear transcription factor, X-box binding like 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1347533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 11828143 ARAP3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11828143 ARAP3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 gene DOID:10283 prostate cancer ISO RGD:1347923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11828143 ARAP3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1347923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11828143 ARAP3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 gene DOID:630 genetic disease ISO RGD:1347923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11828143 ARAP3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11828143 ARAP3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11828179 DDX5 DEAD-box helicase 5 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1345493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 11828179 DDX5 DEAD-box helicase 5 gene DOID:289 endometriosis ISO RGD:1345493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 11828179 DDX5 DEAD-box helicase 5 gene DOID:3151 skin squamous cell carcinoma ISO RGD:1345493 D RGD:9068941 20200609 RGD protein:increased expression:foreskin (human) PMID:22548649|REF_RGD_ID:9850272 11828179 DDX5 DEAD-box helicase 5 gene DOID:630 genetic disease ISO RGD:1345493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11828179 DDX5 DEAD-box helicase 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1345493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11828200 JPH1 junctophilin 1 gene DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ISO RGD:1318763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 PMID:28492532 11828200 JPH1 junctophilin 1 gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:1318763 D RGD:7240710 20180130 OMIM 11828200 JPH1 junctophilin 1 gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:1318763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K PMID:15805163|PMID:20685671|PMID:21681106|PMID:25168384 11828200 JPH1 junctophilin 1 gene DOID:0110185 Charcot-Marie-Tooth disease type 4A ISO RGD:1318763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A PMID:28492532 11828200 JPH1 junctophilin 1 gene DOID:630 genetic disease ISO RGD:1318763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11828216 MTPAP mitochondrial poly(A) polymerase gene DOID:0050943 spastic ataxia 4 ISO RGD:1322070 D RGD:7240710 20180130 OMIM 11828216 MTPAP mitochondrial poly(A) polymerase gene DOID:0050943 spastic ataxia 4 ISO RGD:1322070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia 4 PMID:20970105|PMID:24651433|PMID:25008111|PMID:25741868|PMID:26319014|PMID:26467025|PMID:28492532|PMID:31779033 11828216 MTPAP mitochondrial poly(A) polymerase gene DOID:0050952 spastic ataxia ISO RGD:1322070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 11828216 MTPAP mitochondrial poly(A) polymerase gene DOID:1909 melanoma ISO RGD:1322070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11828216 MTPAP mitochondrial poly(A) polymerase gene DOID:630 genetic disease ISO RGD:1322070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11828229 MYF6 myogenic factor 6 gene DOID:0111217 autosomal dominant centronuclear myopathy ISO RGD:731932 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:11053684|PMID:25741868|PMID:28492532 11828229 MYF6 myogenic factor 6 gene DOID:0111223 centronuclear myopathy 1 ISO RGD:731932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Centronuclear Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, centronuclear, 3 PMID:11053684|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11828229 MYF6 myogenic factor 6 gene DOID:422 congenital structural myopathy ISO RGD:731932 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:11053684|PMID:25741868|PMID:28492532 11828229 MYF6 myogenic factor 6 gene DOID:630 genetic disease ISO RGD:731932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11828240 TK1 thymidine kinase 1 gene DOID:0080600 COVID-19 ISO RGD:736473 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11828240 TK1 thymidine kinase 1 gene DOID:1612 breast cancer ISO RGD:736473 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:10883887|REF_RGD_ID:2317242 11828240 TK1 thymidine kinase 1 gene DOID:2893 cervix carcinoma ISO RGD:736473 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:11474248|REF_RGD_ID:2317243 11828240 TK1 thymidine kinase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:736473 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:15583816|REF_RGD_ID:2317237 11828240 TK1 thymidine kinase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:736473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11828240 TK1 thymidine kinase 1 gene DOID:630 genetic disease ISO RGD:736473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11828240 TK1 thymidine kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11828240 TK1 thymidine kinase 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 11828240 TK1 thymidine kinase 1 gene DOID:9006205 Animal Disease Models ISO RGD:736473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11828240 TK1 thymidine kinase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 11828252 ANGPTL7 angiopoietin like 7 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1350833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11828252 ANGPTL7 angiopoietin like 7 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1350833 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11828252 ANGPTL7 angiopoietin like 7 gene DOID:0111936 immunodeficiency 14 ISO RGD:1350833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 11828252 ANGPTL7 angiopoietin like 7 gene DOID:630 genetic disease ISO RGD:1350833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11828252 ANGPTL7 angiopoietin like 7 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1350833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 11828261 SPDYE4 speedy/RINGO cell cycle regulator family member E4 gene DOID:630 genetic disease ISO RGD:2303837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11828271 RGL3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1320262 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11828271 RGL3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1320262 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11828271 RGL3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:0111254 glutaric acidemia I ISO RGD:1320262 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11828271 RGL3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:3413 alpha-mannosidosis ISO RGD:1320262 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11828271 RGL3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:630 genetic disease ISO RGD:1320262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11828292 EVI5 ecotropic viral integration site 5 gene DOID:0112131 severe congenital neutropenia 2 ISO RGD:1350871 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant PMID:28492532 11828292 EVI5 ecotropic viral integration site 5 gene DOID:630 genetic disease ISO RGD:1350871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11828329 DHRS9 dehydrogenase/reductase 9 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736293 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11828329 DHRS9 dehydrogenase/reductase 9 gene DOID:630 genetic disease ISO RGD:736293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11828329 DHRS9 dehydrogenase/reductase 9 gene DOID:9003996 Birth Weight ISO RGD:736293 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34200176 11828344 CPE carboxypeptidase E gene DOID:11981 morbid obesity ISO RGD:732381 D RGD:9068941 20200609 RGD mRNA:increased expression:visceral abdominal fat:significantly higher expression in visceral fat than subcutaneous fat of morbidly obese subjects PMID:12530526|REF_RGD_ID:1626182 11828344 CPE carboxypeptidase E gene DOID:28 endocrine system disease ISO RGD:732381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15358678 11828344 CPE carboxypeptidase E gene DOID:630 genetic disease ISO RGD:732381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11828344 CPE carboxypeptidase E gene DOID:9002420 BDV Syndrome ISO RGD:732381 D RGD:7240710 20210818 OMIM 11828344 CPE carboxypeptidase E gene DOID:9002420 BDV Syndrome ISO RGD:732381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BDV syndrome | ClinVar Annotator: match by term: BLAKEMORE-DURMAZ-VASILEIOU SYNDROME PMID:25741868|PMID:28492532|PMID:34383079 11828344 CPE carboxypeptidase E gene DOID:9005172 Lung Neoplasms ISO RGD:732381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 11828344 CPE carboxypeptidase E gene DOID:9007692 Insulin Resistance ISO RGD:732381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15358678 11828344 CPE carboxypeptidase E gene DOID:9008023 Memory Disorders ISO RGD:732382 D RGD:9068941 20200609 RGD PMID:18570185|REF_RGD_ID:6483325 11828344 CPE carboxypeptidase E gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:732381 D RGD:9068941 20200609 RGD no association between obesity or diabetes and three SNPs (-53G>T, -144G>A, 219G>A) in Japanese patients PMID:9662053|REF_RGD_ID:1626184 11828344 CPE carboxypeptidase E gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:732381 D RGD:9068941 20200609 RGD DNA:SNP:CDS:847C>T, amino acid R283W; earlier age of onset in heterozygotes in an four Ashkenazi families PMID:11462236|REF_RGD_ID:1626183 11828344 CPE carboxypeptidase E gene DOID:9970 obesity ISO RGD:732381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15358678|PMID:23434795 11828344 CPE carboxypeptidase E gene DOID:9970 obesity ISO RGD:732382 D RGD:9068941 20200609 RGD DNA:transition:CDS:729T>C, amino acid S202P; decreased activity results in decrease in processing of proinsulin PMID:7663508|REF_RGD_ID:1626181 11828344 CPE carboxypeptidase E gene DOID:9970 obesity ISO RGD:732382 D RGD:9068941 20220825 MouseDO OMIM:601665 11828344 CPE carboxypeptidase E gene DOID:9970 obesity no_association ISO RGD:732381 D RGD:9068941 20200609 RGD no association between obesity or diabetes and three SNPs (-53G>T, -144G>A, 219G>A) in Japanese patients PMID:9662053|REF_RGD_ID:1626184 11828366 SKA2 spindle and kinetochore associated complex subunit 2 gene DOID:0050436 mulibrey nanism ISO RGD:1316064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mulibrey nanism syndrome PMID:21681106 11828366 SKA2 spindle and kinetochore associated complex subunit 2 gene DOID:0050777 Joubert syndrome ISO RGD:1316064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11828366 SKA2 spindle and kinetochore associated complex subunit 2 gene DOID:630 genetic disease ISO RGD:1316064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11828379 SPIRE2 spire type actin nucleation factor 2 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1314110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 11828379 SPIRE2 spire type actin nucleation factor 2 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1314110 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11828379 SPIRE2 spire type actin nucleation factor 2 gene DOID:13636 Fanconi anemia ISO RGD:1314110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:19367192|PMID:25741868|PMID:28492532|PMID:29098742|PMID:9721219 11828379 SPIRE2 spire type actin nucleation factor 2 gene DOID:630 genetic disease ISO RGD:1314110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11828379 SPIRE2 spire type actin nucleation factor 2 gene DOID:6846 familial melanoma ISO RGD:1314110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:28492532 11828396 NKAP NFKB activating protein gene DOID:0050437 Danon disease ISO RGD:1606506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 11828396 NKAP NFKB activating protein gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11828396 NKAP NFKB activating protein gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1606506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 11828396 NKAP NFKB activating protein gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1606506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 11828396 NKAP NFKB activating protein gene DOID:12849 autistic disorder ISO RGD:1606506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11828396 NKAP NFKB activating protein gene DOID:630 genetic disease ISO RGD:1606506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:31587868 11828396 NKAP NFKB activating protein gene DOID:9001354 DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY ISO RGD:1606506 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy PMID:25741868 11828396 NKAP NFKB activating protein gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1606506 D RGD:9068941 20221110 RGD DNA:missense mutations:exon 8-9:multiple (human) PMID:31587868|REF_RGD_ID:155641252 11828396 NKAP NFKB activating protein gene DOID:9007858 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE ISO RGD:1606506 D RGD:7240710 20200722 OMIM 11828396 NKAP NFKB activating protein gene DOID:9007858 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE ISO RGD:1606506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type PMID:25741868|PMID:26358559|PMID:31587868 11828396 NKAP NFKB activating protein gene DOID:9008086 Developmental Disabilities ISO RGD:1606506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11828426 TUFT1 tuftelin 1 gene DOID:0080422 Dravet syndrome ISO RGD:1321243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 11828426 TUFT1 tuftelin 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1321243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11828426 TUFT1 tuftelin 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1321243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11828426 TUFT1 tuftelin 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1321243 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11828426 TUFT1 tuftelin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1321243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11828426 TUFT1 tuftelin 1 gene DOID:5812 MHC class II deficiency ISO RGD:1321243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11828426 TUFT1 tuftelin 1 gene DOID:630 genetic disease ISO RGD:1321243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11828426 TUFT1 tuftelin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11828445 UFSP1 UFM1 specific peptidase 1 (inactive) gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11828445 UFSP1 UFM1 specific peptidase 1 (inactive) gene DOID:630 genetic disease ISO RGD:1604425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11828450 CHID1 chitinase domain containing 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11828450 CHID1 chitinase domain containing 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1604307 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11828450 CHID1 chitinase domain containing 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:1604307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11828450 CHID1 chitinase domain containing 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11828450 CHID1 chitinase domain containing 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11828450 CHID1 chitinase domain containing 1 gene DOID:630 genetic disease ISO RGD:1604307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11828450 CHID1 chitinase domain containing 1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1604307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11828486 PHB2 prohibitin 2 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1604641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11828486 PHB2 prohibitin 2 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1604641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11828486 PHB2 prohibitin 2 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1604641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11828486 PHB2 prohibitin 2 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1604641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11828486 PHB2 prohibitin 2 gene DOID:0111621 Temtamy syndrome ISO RGD:1604641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11828486 PHB2 prohibitin 2 gene DOID:630 genetic disease ISO RGD:1604641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11828486 PHB2 prohibitin 2 gene DOID:9000998 Brain Injuries ISO RGD:620203 D RGD:9068941 20200609 RGD PMID:24566151|REF_RGD_ID:12903261 11828486 PHB2 prohibitin 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1604641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11828500 ARV1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1349198 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 11828500 ARV1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:0080417 developmental and epileptic encephalopathy 38 ISO RGD:1349198 D RGD:7240710 20190315 OMIM 11828500 ARV1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:0080417 developmental and epileptic encephalopathy 38 ISO RGD:1349198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 38 PMID:25558065|PMID:25741868|PMID:27270415|PMID:28492532|PMID:32165008 11828500 ARV1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:1432 blindness ISO RGD:1349198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blindness PMID:25558065|PMID:25741868|PMID:27270415 11828500 ARV1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:1540 parathyroid carcinoma ISO RGD:1349198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11828500 ARV1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:630 genetic disease ISO RGD:1349198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32165008 11828500 ARV1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:9006534 Nervous System Malformations ISO RGD:1349198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25558065|PMID:25741868|PMID:27270415 11828500 ARV1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1349198 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 11828500 ARV1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11828510 LOC100994331 olfactory receptor 7D2 gene DOID:12849 autistic disorder ISO RGD:1353359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11828510 LOC100994331 olfactory receptor 7D2 gene DOID:630 genetic disease ISO RGD:1353359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11828514 NECTIN2 nectin cell adhesion molecule 2 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27356265 11828514 NECTIN2 nectin cell adhesion molecule 2 gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28659334 11828514 NECTIN2 nectin cell adhesion molecule 2 gene DOID:0080395 orofacial cleft 1 ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21637507 11828514 NECTIN2 nectin cell adhesion molecule 2 gene DOID:0080600 COVID-19 ISO RGD:1319880 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11828514 NECTIN2 nectin cell adhesion molecule 2 gene DOID:10652 Alzheimer's disease ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29107063|PMID:30319691|PMID:30320580 11828514 NECTIN2 nectin cell adhesion molecule 2 gene DOID:10652 Alzheimer's disease ISO RGD:1319880 D RGD:9068941 20200609 RGD DNA:SNP: :rs6859 (human) PMID:22159054|REF_RGD_ID:6484658 11828514 NECTIN2 nectin cell adhesion molecule 2 gene DOID:11054 urinary bladder cancer ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29321541 11828514 NECTIN2 nectin cell adhesion molecule 2 gene DOID:14330 Parkinson's disease ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 11828514 NECTIN2 nectin cell adhesion molecule 2 gene DOID:1936 atherosclerosis ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28062492 11828514 NECTIN2 nectin cell adhesion molecule 2 gene DOID:1969 cerebral palsy ISO RGD:1319880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 11828514 NECTIN2 nectin cell adhesion molecule 2 gene DOID:2377 multiple sclerosis ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16738668 11828514 NECTIN2 nectin cell adhesion molecule 2 gene DOID:2377 multiple sclerosis no_association ISO RGD:1319880 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:17376543|REF_RGD_ID:6767565 11828514 NECTIN2 nectin cell adhesion molecule 2 gene DOID:2377 multiple sclerosis severity ISO RGD:1319880 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:c.89-104C>T (rs394221) (human) PMID:16738668|REF_RGD_ID:6767558 11828514 NECTIN2 nectin cell adhesion molecule 2 gene DOID:418 systemic scleroderma ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27482699 11828514 NECTIN2 nectin cell adhesion molecule 2 gene DOID:630 genetic disease ISO RGD:1319880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11828514 NECTIN2 nectin cell adhesion molecule 2 gene DOID:8566 herpes simplex ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10729168|PMID:11602758|PMID:30319691 11828514 NECTIN2 nectin cell adhesion molecule 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29321541 11828514 NECTIN2 nectin cell adhesion molecule 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11828514 NECTIN2 nectin cell adhesion molecule 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30614027 11828514 NECTIN2 nectin cell adhesion molecule 2 gene DOID:9002321 Teratozoospermia ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28689229 11828514 NECTIN2 nectin cell adhesion molecule 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23758976 11828514 NECTIN2 nectin cell adhesion molecule 2 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30503753 11828514 NECTIN2 nectin cell adhesion molecule 2 gene DOID:9003370 Dyslipidemias ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29670124 11828514 NECTIN2 nectin cell adhesion molecule 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23758976 11828514 NECTIN2 nectin cell adhesion molecule 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29855615 11828527 LOC100995923 torsin-1A-interacting protein 2 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1604221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 11828527 LOC100995923 torsin-1A-interacting protein 2 gene DOID:0110289 autosomal recessive limb-girdle muscular dystrophy type 2Y ISO RGD:1604221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Y PMID:24856141|PMID:25193337 11828527 LOC100995923 torsin-1A-interacting protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1604221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11828527 LOC100995923 torsin-1A-interacting protein 2 gene DOID:630 genetic disease ISO RGD:1604221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11828527 LOC100995923 torsin-1A-interacting protein 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1604221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11828527 LOC100995923 torsin-1A-interacting protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11828549 CDC26 cell division cycle 26 gene DOID:630 genetic disease ISO RGD:1322746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11828611 POLDIP2 DNA polymerase delta interacting protein 2 gene DOID:11574 streptococcal meningitis treatment ISO RGD:1315968 D RGD:9068941 20210326 RGD PMID:32790044|REF_RGD_ID:124713556 11828611 POLDIP2 DNA polymerase delta interacting protein 2 gene DOID:9002514 Neointima ISO RGD:1315968 D RGD:9068941 20210326 RGD PMID:30237457|REF_RGD_ID:124713557 11828626 SEC13 SEC13 homolog, nuclear pore and COPII coat complex component gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1344614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 11828626 SEC13 SEC13 homolog, nuclear pore and COPII coat complex component gene DOID:630 genetic disease ISO RGD:1344614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11828626 SEC13 SEC13 homolog, nuclear pore and COPII coat complex component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11828626 SEC13 SEC13 homolog, nuclear pore and COPII coat complex component gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1344614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 11828645 ZNF674 zinc finger protein 674 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1602785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability 11828645 ZNF674 zinc finger protein 674 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11828645 ZNF674 zinc finger protein 674 gene DOID:12849 autistic disorder ISO RGD:1602785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11828645 ZNF674 zinc finger protein 674 gene DOID:630 genetic disease ISO RGD:1602785 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11828645 ZNF674 zinc finger protein 674 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11828645 ZNF674 zinc finger protein 674 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1602785 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16385466 11828645 ZNF674 zinc finger protein 674 gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1602785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25972376 11828667 MS4A13 membrane spanning 4-domains A13 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11828667 MS4A13 membrane spanning 4-domains A13 gene DOID:1059 intellectual disability ISO RGD:1606059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11828667 MS4A13 membrane spanning 4-domains A13 gene DOID:630 genetic disease ISO RGD:1606059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11828681 TNFRSF12A TNF receptor superfamily member 12A gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1343569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11828681 TNFRSF12A TNF receptor superfamily member 12A gene DOID:1826 epilepsy ISO RGD:1343569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11828681 TNFRSF12A TNF receptor superfamily member 12A gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1343569 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11828681 TNFRSF12A TNF receptor superfamily member 12A gene DOID:3021 acute kidney failure ISO RGD:1343569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23052191 11828681 TNFRSF12A TNF receptor superfamily member 12A gene DOID:5844 myocardial infarction ISO RGD:1343569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20082609 11828681 TNFRSF12A TNF receptor superfamily member 12A gene DOID:630 genetic disease ISO RGD:1343569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11828681 TNFRSF12A TNF receptor superfamily member 12A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11828689 PRG2 proteoglycan 2, pro eosinophil major basic protein gene DOID:0060041 autism spectrum disorder ISO RGD:737332 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11828689 PRG2 proteoglycan 2, pro eosinophil major basic protein gene DOID:1059 intellectual disability ISO RGD:737332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11828689 PRG2 proteoglycan 2, pro eosinophil major basic protein gene DOID:1080 filariasis ISO RGD:737333 D RGD:9068941 20210108 RGD PMID:24626328|REF_RGD_ID:40903014 11828689 PRG2 proteoglycan 2, pro eosinophil major basic protein gene DOID:12140 Chagas disease ISO RGD:737332 D RGD:9068941 20210108 RGD mRNA:increased expression:plancenta (human) PMID:29545200|REF_RGD_ID:40902989 11828689 PRG2 proteoglycan 2, pro eosinophil major basic protein gene DOID:1725 peritoneum cancer severity ISO RGD:737332 D RGD:9068941 20201225 RGD associated with colorectal cancer;protein:decreased expression:colorectum, eosinophil (human) PMID:28439450|REF_RGD_ID:40902993 11828689 PRG2 proteoglycan 2, pro eosinophil major basic protein gene DOID:2841 asthma ISO RGD:737332 D RGD:9068941 20200609 RGD associated with cough;protein:increased expression:sputum: PMID:22022864|REF_RGD_ID:13506944 11828689 PRG2 proteoglycan 2, pro eosinophil major basic protein gene DOID:2841 asthma disease_progression ISO RGD:737332 D RGD:9068941 20200609 RGD associated with viral infection;mRNA:increased expression:sputum: PMID:24450586|REF_RGD_ID:13506943 11828689 PRG2 proteoglycan 2, pro eosinophil major basic protein gene DOID:2841 asthma no_association ISO RGD:737333 D RGD:9068941 20200609 RGD PMID:11067904|REF_RGD_ID:13506942 11828689 PRG2 proteoglycan 2, pro eosinophil major basic protein gene DOID:2841 asthma severity ISO RGD:737332 D RGD:9068941 20200609 RGD mRNA:increased expression:eosinophil: PMID:16982448|REF_RGD_ID:13506941 11828689 PRG2 proteoglycan 2, pro eosinophil major basic protein gene DOID:630 genetic disease ISO RGD:737332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11828689 PRG2 proteoglycan 2, pro eosinophil major basic protein gene DOID:9006771 Chronic Rhinosinusitis disease_progression ISO RGD:737332 D RGD:9068941 20200609 RGD associated with Nasal Polyps; PMID:24450586|REF_RGD_ID:13506943 11828689 PRG2 proteoglycan 2, pro eosinophil major basic protein gene DOID:9970 obesity ISO RGD:737332 D RGD:9068941 20210108 RGD mRNA:decreased expression:placenta (human) PMID:28125591|REF_RGD_ID:40902990 11828723 ANAPC15 anaphase promoting complex subunit 15 gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1601769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 11828723 ANAPC15 anaphase promoting complex subunit 15 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1601769 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11828723 ANAPC15 anaphase promoting complex subunit 15 gene DOID:0110515 autosomal recessive nonsyndromic deafness 63 ISO RGD:1601769 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 63 PMID:24033266|PMID:25741868|PMID:25788562|PMID:26467025|PMID:28492532 11828723 ANAPC15 anaphase promoting complex subunit 15 gene DOID:1059 intellectual disability ISO RGD:1601769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11828723 ANAPC15 anaphase promoting complex subunit 15 gene DOID:630 genetic disease ISO RGD:1601769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 11828723 ANAPC15 anaphase promoting complex subunit 15 gene DOID:9004538 Hearing Loss ISO RGD:1601769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 11828754 CTDP1 CTD phosphatase subunit 1 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1323374 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11828754 CTDP1 CTD phosphatase subunit 1 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1323374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 11828754 CTDP1 CTD phosphatase subunit 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1323374 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:14517542|PMID:15322984|PMID:16194727|PMID:20301787|PMID:23408394|PMID:24690360|PMID:28492532|PMID:29174527 11828754 CTDP1 CTD phosphatase subunit 1 gene DOID:630 genetic disease ISO RGD:1323374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11828754 CTDP1 CTD phosphatase subunit 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:1323374 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 11828754 CTDP1 CTD phosphatase subunit 1 gene DOID:8445 intestinal volvulus ISO RGD:1323374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11828754 CTDP1 CTD phosphatase subunit 1 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1323374 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 11828754 CTDP1 CTD phosphatase subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11828754 CTDP1 CTD phosphatase subunit 1 gene DOID:9005826 Congenital Cataracts, Facial Dysmorphism, and Neuropathy ISO RGD:1323374 D RGD:7240710 20180130 OMIM 11828754 CTDP1 CTD phosphatase subunit 1 gene DOID:9005826 Congenital Cataracts, Facial Dysmorphism, and Neuropathy ISO RGD:1323374 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital Cataracts, Facial Dysmorphism, and Neuropathy PMID:14517542|PMID:15322984|PMID:16194727|PMID:20301787|PMID:23408394|PMID:24690360|PMID:25741868|PMID:28492532|PMID:29174527 11828754 CTDP1 CTD phosphatase subunit 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1323374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11828774 TAF2 TATA-box binding protein associated factor 2 gene DOID:0081205 autosomal recessive intellectual developmental disorder 40 ISO RGD:1353856 D RGD:7240710 20180130 OMIM 11828774 TAF2 TATA-box binding protein associated factor 2 gene DOID:0081205 autosomal recessive intellectual developmental disorder 40 ISO RGD:1353856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 40 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH FEEDING DIFFICULTIES, THIN CORPUS CALLOSUM, AND FOOT DEFORMITY PMID:18414213|PMID:21937992|PMID:22633631|PMID:24084144|PMID:25741868|PMID:26757139|PMID:28492532|PMID:34474177 11828774 TAF2 TATA-box binding protein associated factor 2 gene DOID:1059 intellectual disability ISO RGD:1353856 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11828774 TAF2 TATA-box binding protein associated factor 2 gene DOID:10907 microcephaly ISO RGD:1353856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11828774 TAF2 TATA-box binding protein associated factor 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1353856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11828774 TAF2 TATA-box binding protein associated factor 2 gene DOID:206 hereditary multiple exostoses ISO RGD:1353856 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 11828774 TAF2 TATA-box binding protein associated factor 2 gene DOID:630 genetic disease ISO RGD:1353856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11828811 ZNF536 zinc finger protein 536 gene DOID:4450 renal cell carcinoma ISO RGD:1351769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 11828811 ZNF536 zinc finger protein 536 gene DOID:630 genetic disease ISO RGD:1351769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11828811 ZNF536 zinc finger protein 536 gene DOID:9002189 High Myopia ISO RGD:1351769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11828811 ZNF536 zinc finger protein 536 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351769 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:0050589 inflammatory bowel disease ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:15844718|REF_RGD_ID:1626117 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:0050784 primary progressive multiple sclerosis disease_progression ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:15732261|REF_RGD_ID:1626118 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:19207313|REF_RGD_ID:12910858 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:0080600 COVID-19 ISO RGD:736042 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:10283 prostate cancer ISO RGD:736042 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs2854744, homozygous C allele associated with 2x increased risk PMID:17724372|REF_RGD_ID:2290008 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:10283 prostate cancer no_association ISO RGD:736042 D RGD:9068941 20200609 RGD DNA:SNP:promoter:no association with rs2854744, 440 cases and 480 related controls from Cleveland, OH and Detroit, MI PMID:15006930|REF_RGD_ID:2290012 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:10283 prostate cancer severity ISO RGD:736042 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs2854744 C allele associated with low grade tumors only, odds ratio=4.1 for low grade vs 1.0 for high grade PMID:17668637|REF_RGD_ID:2290015 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:10456 tonsillitis treatment ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:27738609|REF_RGD_ID:12743605 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:10534 stomach cancer treatment ISO RGD:736042 D RGD:9068941 20220901 RGD human cells in mouse model PMID:16052530|REF_RGD_ID:153344579 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:10652 Alzheimer's disease ISO RGD:10774 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus PMID:24964199|REF_RGD_ID:10402572 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:10652 Alzheimer's disease ISO RGD:736042 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:23473966|REF_RGD_ID:10402570 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:10652 Alzheimer's disease treatment ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:10399774|REF_RGD_ID:10402576 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:11054 urinary bladder cancer ISO RGD:736042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21347663 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:11054 urinary bladder cancer ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:plasma:level significantly lower in cases than controls (p<0.01), highest quartile levels associated with reduced risk (OR=0.38) PMID:12544349|REF_RGD_ID:2290028 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:11476 osteoporosis ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:9284698|REF_RGD_ID:10402579 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:12241 beta thalassemia ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:9666877|REF_RGD_ID:12743604 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:12689 acoustic neuroma susceptibility ISO RGD:736042 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21788435|REF_RGD_ID:8548833 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:12849 autistic disorder ISO RGD:736042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17547689 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:13025 retinopathy of prematurity ISO RGD:736042 D RGD:9068941 20200609 RGD associated with Obstetric Labor, Premature; protein:decreased expression:plasma: PMID:23202391|REF_RGD_ID:12743584 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:14250 Down syndrome ISO RGD:736042 D RGD:9068941 20200609 RGD protein:increased expression:blood: PMID:9469274|REF_RGD_ID:12743600 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:1485 cystic fibrosis ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:15310308|REF_RGD_ID:12743589 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:1612 breast cancer ISO RGD:736042 D RGD:9068941 20200609 RGD DNA:SNP:promoter,CDS:variant allele of multiple SNPs including rs2854744, associated with increased risk singly and in combination, 1,193 patients and 1,310 control Chinese women in Shanghai PMID:15298948|REF_RGD_ID:2290011 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:1612 breast cancer ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:10069662|PMID:17287408|REF_RGD_ID:2301715|REF_RGD_ID:2301716 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:1612 breast cancer no_association ISO RGD:736042 D RGD:9068941 20200609 RGD DNA:SNP:promoter:no association with rs2854744, 677 cases and 834 controls from the Nurses' Health Study PMID:12925957|REF_RGD_ID:2290009 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:1697 ichthyosis ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:18780604|REF_RGD_ID:12743608 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:1858 McCune Albright syndrome treatment ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:16720661|REF_RGD_ID:12743609 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:1875 impotence ISO RGD:2874 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:penis PMID:21595839|REF_RGD_ID:10402765 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:1875 impotence treatment ISO RGD:2874 D RGD:9068941 20200609 RGD PMID:24576658|REF_RGD_ID:10402763 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:2349 arteriosclerosis ISO RGD:736042 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:15625284|REF_RGD_ID:2313768 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:2671 transitional cell carcinoma ISO RGD:736042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21347663 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:736042 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:17541304|REF_RGD_ID:2301466 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:3070 high grade glioma severity ISO RGD:736042 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21788435|REF_RGD_ID:8548833 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:3491 Turner syndrome ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:17067837|REF_RGD_ID:12743588 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:3491 Turner syndrome treatment ISO RGD:736042 D RGD:9068941 20200609 RGD DNA:SNP: :¿¿¿202 A>C(rs2854744)(human) PMID:22278433|REF_RGD_ID:12743598 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:3770 pulmonary fibrosis ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:15681824|REF_RGD_ID:1626120 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:2874 D RGD:9068941 20200609 RGD PMID:19844724|REF_RGD_ID:10402761 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:418 systemic scleroderma ISO RGD:736042 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19004037|REF_RGD_ID:12743606 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:4450 renal cell carcinoma ISO RGD:736042 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:tumor:27/43 (63%) by cDNA microarray, 43/58 (74%) by immunohistochemistry PMID:18076934|REF_RGD_ID:2290003 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:4959 epidermolysis bullosa dystrophica ISO RGD:736042 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:skin: PMID:15140235|REF_RGD_ID:12743601 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:630 genetic disease ISO RGD:736042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:7147 ankylosing spondylitis ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:9851264|REF_RGD_ID:10402573 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:7148 rheumatoid arthritis ISO RGD:736042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17379860 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:8398 osteoarthritis ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:18775662|REF_RGD_ID:10402575 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:8692 myeloid leukemia ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:blood: PMID:23716272|REF_RGD_ID:12743616 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:736042 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:significant decrease in cancer relative to controls (P=0.03) PMID:17709267|REF_RGD_ID:2290004 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:serum:significantly decreased (p<0.0001), levels inversely associated with serum IGF-II levels (p<0.01) PMID:14675666|REF_RGD_ID:2290021 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9000121 Malocclusion ISO RGD:2874 D RGD:9068941 20200609 RGD PMID:22758598|REF_RGD_ID:10045831 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:736042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9000528 Coronary Disease ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:15521962|REF_RGD_ID:1626121 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2874 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:16923367|REF_RGD_ID:10402581 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:736042 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:21924014|REF_RGD_ID:12743583 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:736042 D RGD:9068941 20200609 RGD mRNA:increased expression:placenta: PMID:21823995|REF_RGD_ID:12743585 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:19591553|REF_RGD_ID:12743590 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:736042 D RGD:9068941 20200609 RGD protein:increased expression:Amniotic fluid: PMID:19217707|REF_RGD_ID:12743599 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:2874 D RGD:9068941 20200609 RGD PMID:15506645|REF_RGD_ID:1600258 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9002278 Metabolic Bone Diseases treatment ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:8619365|REF_RGD_ID:10402812 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15318950|PMID:16000583|PMID:24586243 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9002407 Spinal Fractures ISO RGD:736042 D RGD:9068941 20200609 RGD associated with Osteoporosis;protein:decreased expression:serum PMID:9258758|REF_RGD_ID:10402578 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9002427 Fetal Macrosomia ISO RGD:736042 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:17113804|REF_RGD_ID:12743591 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9002457 Experimental Arthritis ISO RGD:2874 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney, serum PMID:14642797|REF_RGD_ID:10402760 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9002762 Ovarian Neoplasms ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:17332286|REF_RGD_ID:2301467 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:736042 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, ovary PMID:16445635|REF_RGD_ID:2301468 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:736042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:serum:significantly decreased (p<0.001), levels inversely associated with serum IGF-II levels (p<0.01) PMID:14675666|REF_RGD_ID:2290021 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2874 D RGD:9068941 20200609 RGD PMID:10709766|REF_RGD_ID:10402756 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency ISO RGD:736042 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21636299|REF_RGD_ID:12910854 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9004265 Endometrioid Carcinomas disease_progression ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:17952116|REF_RGD_ID:2301465 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9004713 Acute-Phase Reaction treatment ISO RGD:736042 D RGD:9068941 20200609 RGD associated with Burns PMID:10714634|REF_RGD_ID:10402777 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10774 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:16180585|REF_RGD_ID:2313766 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2874 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:penis PMID:18068478|REF_RGD_ID:2289159 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2874 D RGD:9068941 20200609 RGD PMID:25582342|REF_RGD_ID:12743617 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9005930 Endotoxemia ISO RGD:2874 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver, serum PMID:18492809|REF_RGD_ID:10402757 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9006008 Closed Head Injuries ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:12002507|REF_RGD_ID:8548865 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:736042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9007661 Dwarfism ISO RGD:736042 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell; PMID:17396438|REF_RGD_ID:12743603 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9007692 Insulin Resistance ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:17237715|REF_RGD_ID:2313762 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9007715 Endometrial Neoplasms ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:plasma:significantly lower circulating levels in 80 cases vs 80 controls (p<0.001), significantly decreased risk in the highest quartile of expression PMID:15159305|REF_RGD_ID:2290018 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9007730 Burns ISO RGD:2874 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney, liver, muscle PMID:10827012|REF_RGD_ID:12910869 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9206 Barrett's esophagus ISO RGD:736042 D RGD:9068941 20200609 RGD associated with Aneuploidy; protein:increased expression:serum: PMID:18006928|REF_RGD_ID:12743582 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9271 ornithine carbamoyltransferase deficiency treatment ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:16703326|REF_RGD_ID:12743607 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:16005252|REF_RGD_ID:2313767 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:15356074|REF_RGD_ID:2313769 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9744 type 1 diabetes mellitus severity ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:16887362|REF_RGD_ID:2313765 11828829 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9970 obesity ISO RGD:2874 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:pancreatic fat pad PMID:22067319|REF_RGD_ID:10402755 11828837 NAA25 N-alpha-acetyltransferase 25, NatB auxiliary subunit gene DOID:630 genetic disease ISO RGD:1605042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11828864 LOC100971856 olfactory receptor 9G4 gene DOID:1059 intellectual disability ISO RGD:1349445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11828864 LOC100971856 olfactory receptor 9G4 gene DOID:630 genetic disease ISO RGD:1349445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11828872 CSNK1G3 casein kinase 1 gamma 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731819 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11828872 CSNK1G3 casein kinase 1 gamma 3 gene DOID:630 genetic disease ISO RGD:731819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11828872 CSNK1G3 casein kinase 1 gamma 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11828872 CSNK1G3 casein kinase 1 gamma 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731819 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11828913 CD40 CD40 molecule gene DOID:0050169 cutaneous lupus erythematosus ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:18050371|REF_RGD_ID:8547765 11828913 CD40 CD40 molecule gene DOID:0050175 tick-borne encephalitis ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:16463218|REF_RGD_ID:11352252 11828913 CD40 CD40 molecule gene DOID:0050185 erythema multiforme ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:18050371|REF_RGD_ID:8547765 11828913 CD40 CD40 molecule gene DOID:0050745 diffuse large B-cell lymphoma susceptibility ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) PMID:20473910|REF_RGD_ID:5490541 11828913 CD40 CD40 molecule gene DOID:0050873 follicular lymphoma susceptibility ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) PMID:20473910|REF_RGD_ID:5490541 11828913 CD40 CD40 molecule gene DOID:0050908 myelodysplastic syndrome ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood, monocyte (human) PMID:17805323|REF_RGD_ID:11520793 11828913 CD40 CD40 molecule gene DOID:0060023 immunodeficiency with hyper IgM type 3 ISO RGD:1604657 D RGD:7240710 20190911 OMIM 11828913 CD40 CD40 molecule gene DOID:0060023 immunodeficiency with hyper IgM type 3 ISO RGD:1604657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3 PMID:11675497|PMID:12584544|PMID:12593727|PMID:14611700|PMID:15272925|PMID:15307939|PMID:15731360|PMID:17344890|PMID:17949264|PMID:18446002|PMID:20702779|PMID:24033266|PMID:25741868|PMID:28492532 11828913 CD40 CD40 molecule gene DOID:0060060 non-Hodgkin lymphoma treatment ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:19636010|REF_RGD_ID:11522746 11828913 CD40 CD40 molecule gene DOID:0060180 colitis ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:15591506|REF_RGD_ID:5508169 11828913 CD40 CD40 molecule gene DOID:0060224 atrial fibrillation treatment ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:17392495|REF_RGD_ID:8547746 11828913 CD40 CD40 molecule gene DOID:0060903 thrombosis ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:21914625|REF_RGD_ID:5490522 11828913 CD40 CD40 molecule gene DOID:0080162 lupus nephritis treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:18566369|PMID:19265127|PMID:23799000|REF_RGD_ID:7248418|REF_RGD_ID:7248425|REF_RGD_ID:7248429 11828913 CD40 CD40 molecule gene DOID:0080544 hyper IgM syndrome ISO RGD:1604657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11828913 CD40 CD40 molecule gene DOID:0081267 graft-versus-host disease treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:18981161|REF_RGD_ID:7248735 11828913 CD40 CD40 molecule gene DOID:10223 dermatomyositis ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:18050371|REF_RGD_ID:8547765 11828913 CD40 CD40 molecule gene DOID:10591 pre-eclampsia ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:blood, monocyte (human) PMID:19221099|REF_RGD_ID:11520792 11828913 CD40 CD40 molecule gene DOID:10652 Alzheimer's disease ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:21414686|REF_RGD_ID:5490302 11828913 CD40 CD40 molecule gene DOID:10976 membranous glomerulonephritis treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:23223173|REF_RGD_ID:8547786 11828913 CD40 CD40 molecule gene DOID:10976 membranous glomerulonephritis treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:23223173|REF_RGD_ID:8547786 11828913 CD40 CD40 molecule gene DOID:11263 chlamydia ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:20102413|REF_RGD_ID:5132268 11828913 CD40 CD40 molecule gene DOID:11339 pneumocystosis treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:10968950|REF_RGD_ID:8547797 11828913 CD40 CD40 molecule gene DOID:12053 cryptococcosis treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:16552046|REF_RGD_ID:7248435 11828913 CD40 CD40 molecule gene DOID:12361 Graves' disease ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP:5' utr:-1C>T (human) PMID:12593727|REF_RGD_ID:8547766 11828913 CD40 CD40 molecule gene DOID:12361 Graves' disease no_association ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP:5' utr:-1C>T (human) PMID:15307939|REF_RGD_ID:8547769 11828913 CD40 CD40 molecule gene DOID:12361 Graves' disease onset ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP PMID:18755875|REF_RGD_ID:8547778 11828913 CD40 CD40 molecule gene DOID:12365 malaria severity ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:11485931|REF_RGD_ID:11352239 11828913 CD40 CD40 molecule gene DOID:12930 dilated cardiomyopathy ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:9495297|REF_RGD_ID:13702889 11828913 CD40 CD40 molecule gene DOID:13139 crescentic glomerulonephritis ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:14569091|REF_RGD_ID:7248599 11828913 CD40 CD40 molecule gene DOID:13378 Kawasaki disease ISO RGD:1604657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446961|PMID:22446962 11828913 CD40 CD40 molecule gene DOID:13378 Kawasaki disease susceptibility ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP:intron:c.51+1066C>T, (rs1535045) (human) PMID:22645426|REF_RGD_ID:8547776 11828913 CD40 CD40 molecule gene DOID:1790 malignant mesothelioma treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:22002241|REF_RGD_ID:11522742 11828913 CD40 CD40 molecule gene DOID:1824 status epilepticus ISO RGD:1604657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18455351 11828913 CD40 CD40 molecule gene DOID:1909 melanoma treatment ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:17327609|REF_RGD_ID:11522745 11828913 CD40 CD40 molecule gene DOID:1909 melanoma treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:22421945|REF_RGD_ID:11522740 11828913 CD40 CD40 molecule gene DOID:1936 atherosclerosis ISO RGD:1615152 D RGD:9068941 20200609 RGD associated with Gram-Negative Bacterial Infections;protein:increased expression:aorta PMID:20505314|REF_RGD_ID:5490534 11828913 CD40 CD40 molecule gene DOID:1936 atherosclerosis ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:16317521|REF_RGD_ID:1582628 11828913 CD40 CD40 molecule gene DOID:2018 hyperinsulinism ISO RGD:1604657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 11828913 CD40 CD40 molecule gene DOID:2234 focal epilepsy ISO RGD:1604657 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11828913 CD40 CD40 molecule gene DOID:224 transient cerebral ischemia severity ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:15795333|REF_RGD_ID:11352234 11828913 CD40 CD40 molecule gene DOID:2377 multiple sclerosis ISO RGD:1604657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19525955 11828913 CD40 CD40 molecule gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) PMID:20634952|REF_RGD_ID:5490971 11828913 CD40 CD40 molecule gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP:enhancer:g.-6787C>T (rs6074022) (human) PMID:20190274|REF_RGD_ID:5490975 11828913 CD40 CD40 molecule gene DOID:2841 asthma ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:19159017|PMID:19220210|REF_RGD_ID:4144188|REF_RGD_ID:5132272 11828913 CD40 CD40 molecule gene DOID:2841 asthma ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:20941750|REF_RGD_ID:4892277 11828913 CD40 CD40 molecule gene DOID:2841 asthma treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:20205594|REF_RGD_ID:8547792 11828913 CD40 CD40 molecule gene DOID:2942 bronchiolitis ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:19470255|REF_RGD_ID:5132271 11828913 CD40 CD40 molecule gene DOID:2959 hyperimmunoglobulin syndrome ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:mutations:exons (human) PMID:11675497|REF_RGD_ID:1599479 11828913 CD40 CD40 molecule gene DOID:2972 renal artery obstruction disease_progression ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:23399713|REF_RGD_ID:7248419 11828913 CD40 CD40 molecule gene DOID:3070 high grade glioma treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:24878890|REF_RGD_ID:11352275 11828913 CD40 CD40 molecule gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:20699612|REF_RGD_ID:5490968 11828913 CD40 CD40 molecule gene DOID:3310 atopic dermatitis ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:18693155|REF_RGD_ID:5132274 11828913 CD40 CD40 molecule gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:21436454|REF_RGD_ID:5490301 11828913 CD40 CD40 molecule gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:dendritic cell PMID:20976171|REF_RGD_ID:5490524 11828913 CD40 CD40 molecule gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:21436454|REF_RGD_ID:5490301 11828913 CD40 CD40 molecule gene DOID:3587 pancreatic ductal carcinoma treatment ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:23983255|REF_RGD_ID:11522743 11828913 CD40 CD40 molecule gene DOID:3892 insulinoma ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:17982058|REF_RGD_ID:5491180 11828913 CD40 CD40 molecule gene DOID:3951 acute myocarditis ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:9495297|REF_RGD_ID:13702889 11828913 CD40 CD40 molecule gene DOID:4195 hyperglycemia ISO RGD:1604657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 11828913 CD40 CD40 molecule gene DOID:4450 renal cell carcinoma treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:12594303|PMID:15282531|PMID:20426873|REF_RGD_ID:11522744|REF_RGD_ID:7248440|REF_RGD_ID:7248724 11828913 CD40 CD40 molecule gene DOID:4481 allergic rhinitis ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:lymphocyte PMID:19086656|REF_RGD_ID:8547782 11828913 CD40 CD40 molecule gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:15210767|REF_RGD_ID:7248442 11828913 CD40 CD40 molecule gene DOID:5050 Ehrlich tumor carcinoma treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:19269163|REF_RGD_ID:11352683 11828913 CD40 CD40 molecule gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:plasmacytoid dendritic cell PMID:20559432|REF_RGD_ID:5490533 11828913 CD40 CD40 molecule gene DOID:630 genetic disease ISO RGD:1604657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11828913 CD40 CD40 molecule gene DOID:6432 pulmonary hypertension treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:25998782|REF_RGD_ID:11344970 11828913 CD40 CD40 molecule gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1604657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome 11828913 CD40 CD40 molecule gene DOID:707 B-cell lymphoma ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:20616215|REF_RGD_ID:5490532 11828913 CD40 CD40 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:1604657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18794853|PMID:20453842|PMID:23143596 11828913 CD40 CD40 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP: :rs4810485 (human) PMID:20498205|REF_RGD_ID:5490972 11828913 CD40 CD40 molecule gene DOID:783 end stage renal disease severity ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20846521|REF_RGD_ID:7248723 11828913 CD40 CD40 molecule gene DOID:783 end stage renal disease treatment ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:12941150|REF_RGD_ID:7248709 11828913 CD40 CD40 molecule gene DOID:7998 hyperthyroidism treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:16756463|REF_RGD_ID:8547761 11828913 CD40 CD40 molecule gene DOID:8283 peritonitis ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:15780086|REF_RGD_ID:7248438 11828913 CD40 CD40 molecule gene DOID:848 arthritis ISO RGD:1604657 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;DNA:SNP: :rs73115010, rs6074028 (human) PMID:23256180|REF_RGD_ID:7248721 11828913 CD40 CD40 molecule gene DOID:8552 chronic myeloid leukemia ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood, dendritic cell (human) PMID:16527350|REF_RGD_ID:11520794 11828913 CD40 CD40 molecule gene DOID:8567 Hodgkin's lymphoma ISO RGD:1604657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7621881 11828913 CD40 CD40 molecule gene DOID:8577 ulcerative colitis ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:intestine, epithelial cell PMID:20133813|REF_RGD_ID:5490590 11828913 CD40 CD40 molecule gene DOID:8584 Burkitt lymphoma treatment ISO RGD:1604657 D RGD:9068941 20200609 RGD human cell line in a mouse model PMID:9192773|REF_RGD_ID:11520790 11828913 CD40 CD40 molecule gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:619830 D RGD:9068941 20200609 RGD protein:decreased expression:ileum PMID:21240009|REF_RGD_ID:5490305 11828913 CD40 CD40 molecule gene DOID:874 bacterial pneumonia ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:20102413|REF_RGD_ID:5132268 11828913 CD40 CD40 molecule gene DOID:8778 Crohn's disease ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:intestine, epithelial cell PMID:20133813|REF_RGD_ID:5490590 11828913 CD40 CD40 molecule gene DOID:8778 Crohn's disease susceptibility ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) PMID:20634952|REF_RGD_ID:5490971 11828913 CD40 CD40 molecule gene DOID:8893 psoriasis susceptibility ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs4810485) (human) PMID:21645569|REF_RGD_ID:5490300 11828913 CD40 CD40 molecule gene DOID:8923 skin melanoma disease_progression ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:8952530|REF_RGD_ID:8547772 11828913 CD40 CD40 molecule gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood, B lymphocyte (human) PMID:17654056|REF_RGD_ID:11344977 11828913 CD40 CD40 molecule gene DOID:9000081 Lymphatic Metastasis ISO RGD:1604657 D RGD:9068941 20200609 RGD associated with breast cancer;DNA:snps:5' utr, intron:c.-1T>C, c.51+914T>G (rs1883832, rs4810485) (human) PMID:21912605|REF_RGD_ID:8547780 11828913 CD40 CD40 molecule gene DOID:9000403 Animal Mammary Neoplasms treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:15922965|REF_RGD_ID:8547789 11828913 CD40 CD40 molecule gene DOID:9000469 Viral Myocarditis ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:10440754|REF_RGD_ID:13702887 11828913 CD40 CD40 molecule gene DOID:9000808 Hypercholesterolemia ISO RGD:619830 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21574786|REF_RGD_ID:7248754 11828913 CD40 CD40 molecule gene DOID:9000808 Hypercholesterolemia treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:21574786|REF_RGD_ID:7248754 11828913 CD40 CD40 molecule gene DOID:9000998 Brain Injuries treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:23924471|REF_RGD_ID:7248749 11828913 CD40 CD40 molecule gene DOID:9001488 Human Influenza ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:19922665|REF_RGD_ID:5132270 11828913 CD40 CD40 molecule gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP:5' utr:rs1883832 (human) PMID:21091218|REF_RGD_ID:5490523 11828913 CD40 CD40 molecule gene DOID:9002153 Chronic Allograft Dysfunction treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:22826618|REF_RGD_ID:11352297 11828913 CD40 CD40 molecule gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:14741776|REF_RGD_ID:8547795 11828913 CD40 CD40 molecule gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:20616215|REF_RGD_ID:5490532 11828913 CD40 CD40 molecule gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:25297507|REF_RGD_ID:13702884 11828913 CD40 CD40 molecule gene DOID:9002457 Experimental Arthritis ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:20435931|REF_RGD_ID:5490544 11828913 CD40 CD40 molecule gene DOID:9002605 Delayed Hypersensitivity ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:15210767|REF_RGD_ID:7248442 11828913 CD40 CD40 molecule gene DOID:9002869 Schistosomiasis Mansoni treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:10623823|REF_RGD_ID:11520789 11828913 CD40 CD40 molecule gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:20226305|REF_RGD_ID:5132269 11828913 CD40 CD40 molecule gene DOID:9004009 Reperfusion Injury ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:12388354|REF_RGD_ID:5508171 11828913 CD40 CD40 molecule gene DOID:9004283 Transplant Rejection disease_progression ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:15221125|REF_RGD_ID:7248441 11828913 CD40 CD40 molecule gene DOID:9004283 Transplant Rejection treatment ISO RGD:1604657 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:14698004|REF_RGD_ID:8547788 11828913 CD40 CD40 molecule gene DOID:9004283 Transplant Rejection treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:21472009|REF_RGD_ID:7248755 11828913 CD40 CD40 molecule gene DOID:9004484 Sepsis ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:decreased nitrosylation:monocyte PMID:20473113|REF_RGD_ID:5490974 11828913 CD40 CD40 molecule gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:21137078|REF_RGD_ID:8547744 11828913 CD40 CD40 molecule gene DOID:9005372 Inflammation ISO RGD:1615152 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1 PMID:17804565|REF_RGD_ID:8547791 11828913 CD40 CD40 molecule gene DOID:9005930 Endotoxemia ISO RGD:1615152 D RGD:9068941 20200609 RGD protein:decreased nitrosylation:macrophage PMID:20473113|REF_RGD_ID:5490974 11828913 CD40 CD40 molecule gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:25993320|REF_RGD_ID:11251055 11828913 CD40 CD40 molecule gene DOID:9006332 Vascular Calcification ISO RGD:1604657 D RGD:9068941 20200609 RGD associated with Coronary Artery Disease PMID:16494885|REF_RGD_ID:7248436 11828913 CD40 CD40 molecule gene DOID:9006372 Animal Helminthiasis ISO RGD:1615152 D RGD:9068941 20200609 RGD protein:increased expression:plasmacytoid dendritic cell PMID:20702728|REF_RGD_ID:5490530 11828913 CD40 CD40 molecule gene DOID:9006623 Murine Acquired Immunodeficiency Syndrome susceptibility ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:12438641|REF_RGD_ID:11520795 11828913 CD40 CD40 molecule gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:17188497|REF_RGD_ID:5491181 11828913 CD40 CD40 molecule gene DOID:9006779 Discoid Lupus Erythematosus ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:18050371|REF_RGD_ID:8547765 11828913 CD40 CD40 molecule gene DOID:9006939 Lyme Neuroborreliosis ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:16463218|REF_RGD_ID:11352252 11828913 CD40 CD40 molecule gene DOID:9007096 Stroke ISO RGD:1604657 D RGD:9068941 20200609 RGD associated with Hypertension PMID:20456428|REF_RGD_ID:5490543 11828913 CD40 CD40 molecule gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:19565716|REF_RGD_ID:11352677 11828913 CD40 CD40 molecule gene DOID:9007110 Subacute Combined Degeneration ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:16716410|REF_RGD_ID:2313422 11828913 CD40 CD40 molecule gene DOID:9007110 Subacute Combined Degeneration treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:16716410|REF_RGD_ID:2313422 11828913 CD40 CD40 molecule gene DOID:9007355 Hashimoto Disease ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17558708|REF_RGD_ID:8547767 11828913 CD40 CD40 molecule gene DOID:9007692 Insulin Resistance ISO RGD:1604657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 11828913 CD40 CD40 molecule gene DOID:9007899 Animal Viral Hepatitis severity ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:21360722|REF_RGD_ID:5490303 11828913 CD40 CD40 molecule gene DOID:9008538 Neisseriaceae Infections ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:19202131|REF_RGD_ID:5132273 11828913 CD40 CD40 molecule gene DOID:9008939 Breast Neoplasms ISO RGD:1604657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043144 11828913 CD40 CD40 molecule gene DOID:9074 systemic lupus erythematosus ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP: :rs3765456 (human) PMID:23256180|REF_RGD_ID:7248721 11828913 CD40 CD40 molecule gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP: :rs4810485 (human) PMID:21914625|REF_RGD_ID:5490522 11828913 CD40 CD40 molecule gene DOID:9146 visceral leishmaniasis treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:14573667|REF_RGD_ID:8547750 11828913 CD40 CD40 molecule gene DOID:9182 pemphigus ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:21255096|REF_RGD_ID:5490304 11828913 CD40 CD40 molecule gene DOID:9201 lichen planus ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:18050371|REF_RGD_ID:8547765 11828913 CD40 CD40 molecule gene DOID:9513 plasma cell leukemia ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:20616215|REF_RGD_ID:5490532 11828913 CD40 CD40 molecule gene DOID:9538 multiple myeloma treatment ISO RGD:1604657 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:10866315|REF_RGD_ID:11522720 11828913 CD40 CD40 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22505539|REF_RGD_ID:6893375 11828913 CD40 CD40 molecule gene DOID:9970 obesity ISO RGD:1604657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 11828913 CD40 CD40 molecule gene DOID:9970 obesity treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:21670556|REF_RGD_ID:7248753 11828913 Cd40 CD40 molecule gene DOID:1936 atherosclerosis treatment ISO RGD:619830 D RGD:9068941 20200609 RGD associated with Hypercholesterolemia PMID:23984971|REF_RGD_ID:8547801 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:0014667 disease of metabolism ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19589179 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:0050440 familial partial lipodystrophy ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19793595 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:0050440 familial partial lipodystrophy ISO RGD:69169 D RGD:9068941 20220825 MouseDO OMIM:151660 | OMIM:604367 | OMIM:608600 | OMIM:613877 | OMIM:615238 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:0050850 diabetic encephalopathy treatment ISO RGD:3371 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24291733|REF_RGD_ID:8553040 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:0050851 glomerulosclerosis treatment ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:11318962|REF_RGD_ID:8553043 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:0060318 acute promyelocytic leukemia ISO RGD:69168 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:0060611 abdominal obesity-metabolic syndrome ISO RGD:69169 D RGD:9068941 20220825 MouseDO 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:0070204 familial partial lipodystrophy type 3 ISO RGD:69168 D RGD:7240710 20180912 OMIM 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:0070204 familial partial lipodystrophy type 3 ISO RGD:69168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PPARG-related familial partial lipodystrophy PMID:10381354|PMID:10523018|PMID:10622252|PMID:10690291|PMID:10851250|PMID:11788685|PMID:12453919|PMID:12663460|PMID:14569127|PMID:14616762|PMID:14671186|PMID:15254591|PMID:17003330|PMID:17299075|PMID:17356052|PMID:22461176|PMID:22539598|PMID:25157153|PMID:25741868|PMID:28492532|PMID:9467001|PMID:9792554 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69168 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:0080322 polycystic kidney disease treatment ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:21147840|REF_RGD_ID:14701037 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:0080600 COVID-19 ISO RGD:69168 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:0081120 Graves ophthalmopathy ISO RGD:69168 D RGD:9068941 20200609 RGD mRNA:increased expression:orbital fat (human) PMID:14588098|REF_RGD_ID:8552818 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17255338 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:69168 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:0111136 congenital generalized lipodystrophy type 2 ISO RGD:69169 D RGD:9068941 20220825 MouseDO OMIM:269700 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:10591 pre-eclampsia ISO RGD:69168 D RGD:9068941 20200609 RGD PMID:15562025|REF_RGD_ID:1580687 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:10591 pre-eclampsia ISO RGD:69168 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34995009 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:10652 Alzheimer's disease ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15993441|PMID:16407166|PMID:30328325 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:10652 Alzheimer's disease no_association ISO RGD:69168 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:18573313|REF_RGD_ID:2301852 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:69168 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.P12A(human) PMID:17440948|REF_RGD_ID:2311642 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:1074 kidney failure ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28182703 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:10763 hypertension ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:15970297|PMID:18437150|REF_RGD_ID:1580684|REF_RGD_ID:2301888 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:10763 hypertension ISO RGD:3371 D RGD:9068941 20200609 RGD protein:decreased expression:rostral ventrolateral medulla (rat) PMID:20404217|REF_RGD_ID:7175297 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:10763 hypertension ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15199296|PMID:19666838|PMID:27292124 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:10763 hypertension ISO RGD:69168 D RGD:9068941 20200609 RGD PMID:12923396|REF_RGD_ID:1580690 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:10763 hypertension ISO RGD:69168 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:18316027|REF_RGD_ID:2301864 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:11054 urinary bladder cancer ISO RGD:3371 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:18712722|REF_RGD_ID:2301870 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:11382 corneal neovascularization treatment ISO RGD:69169 D RGD:9068941 20200609 RGD PMID:17625041|REF_RGD_ID:8552895 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:11613 hyperandrogenism ISO RGD:3371 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ovary follicle (rat) PMID:20813360|REF_RGD_ID:8553031 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:11981 morbid obesity ISO RGD:69168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Morbid obesity PMID:10690291|PMID:25157153|PMID:28492532|PMID:9753710 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:69168 D RGD:9068941 20200609 RGD associated with Diabetic Nephropathies; DNA:polymorphisms:exon:161C>T, p.P12A (human) PMID:18417957|REF_RGD_ID:2301860 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:12935 alcoholic cardiomyopathy ISO RGD:3371 D RGD:9068941 20200609 RGD protein:increased expression:heart myocardium PMID:18783396|REF_RGD_ID:2301868 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:12986 leukostasis ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12468449 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:13207 proliferative diabetic retinopathy onset ISO RGD:69168 D RGD:9068941 20200609 RGD PMID:18541841|REF_RGD_ID:2301854 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:13207 proliferative diabetic retinopathy susceptibility ISO RGD:69168 D RGD:9068941 20200609 RGD DNA:snp:cds:p.P12A (rs1801282) (human) PMID:23559865|REF_RGD_ID:8552820 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:13207 proliferative diabetic retinopathy susceptibility ISO RGD:69168 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:snp:promoter:c.-2819A>G (human) PMID:19125195|REF_RGD_ID:8699508 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:14557 primary pulmonary hypertension ISO RGD:69169 D RGD:9068941 20220825 MouseDO OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:1520 colon carcinoma ISO RGD:69168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:10394368 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:1561 cognitive disorder susceptibility ISO RGD:69168 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P12A (human) PMID:18639367|REF_RGD_ID:2301850 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:1793 pancreatic cancer ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11034103|PMID:11741176 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:1793 pancreatic cancer ISO RGD:69168 D RGD:9068941 20200609 RGD PMID:19152448|REF_RGD_ID:2317462 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:1793 pancreatic cancer susceptibility ISO RGD:69168 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.P12A (human) PMID:19436234|REF_RGD_ID:2317460 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:1909 melanoma ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14512786|PMID:28962521 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:1936 atherosclerosis ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18269830 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:1936 atherosclerosis ISO RGD:69169 D RGD:9068941 20200609 RGD protein:increased expression:aortic sinus, endothelium (mouse) PMID:15779851|REF_RGD_ID:8552894 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:219 colon cancer ISO RGD:69168 D RGD:9068941 20200609 RGD DNA:frameshift mutation:c.472delA (human) PMID:10394368|REF_RGD_ID:1601444 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:224 transient cerebral ischemia ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:18378216|PMID:18973594|PMID:19221220|REF_RGD_ID:2301866|REF_RGD_ID:2301892|REF_RGD_ID:8553032 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:2349 arteriosclerosis treatment ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:15967870|REF_RGD_ID:8553041 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:2921 glomerulonephritis ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11318962 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:2988 antiphospholipid syndrome ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28182703 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:299 adenocarcinoma ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11034103 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:3021 acute kidney failure ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20623750|PMID:24011919|PMID:24433871 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:3021 acute kidney failure treatment ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:17494862|REF_RGD_ID:8553020 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:3068 glioblastoma ISO RGD:69168 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glioblastoma, somatic PMID:10381354|PMID:10523018|PMID:10690291|PMID:10851250|PMID:14569127|PMID:14616762|PMID:14671186|PMID:28492532|PMID:9467001 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:3070 high grade glioma ISO RGD:69168 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:10381354|PMID:10523018|PMID:10690291|PMID:10851250|PMID:14569127|PMID:14616762|PMID:14671186|PMID:28492532|PMID:9467001 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:326 ischemia ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12468449|PMID:24433871 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:3393 coronary artery disease ISO RGD:69168 D RGD:9068941 20200609 RGD protein:decreased expression:carotid artery, macrophage, smooth muscle cell (human) PMID:21709632|REF_RGD_ID:8552814 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:3407 carotid artery disease ISO RGD:69168 D RGD:9068941 20200609 RGD PMID:15284449|REF_RGD_ID:1580688 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:69168 D RGD:9068941 20200609 RGD PMID:19396032|REF_RGD_ID:2317461 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:3946 pituitary-dependent Cushing's disease ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16809932 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:4989 pancreatitis ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:18583255|REF_RGD_ID:2301875 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:6000 congestive heart failure ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:630 genetic disease ISO RGD:69168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:684 hepatocellular carcinoma ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16374840 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:684 hepatocellular carcinoma severity ISO RGD:69168 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:27451128|REF_RGD_ID:14694822 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:783 end stage renal disease disease_progression ISO RGD:69168 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:SNP: :p.P12A (human) PMID:18467141|REF_RGD_ID:2301857 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:811 lipodystrophy ISO RGD:69168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lipodystrophy PMID:10622252|PMID:12663460|PMID:15254591|PMID:17003330|PMID:22461176|PMID:22539598|PMID:25157153|PMID:25741868|PMID:28492532 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:8398 osteoarthritis ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:8778 Crohn's disease ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21829567 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:8893 psoriasis ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10815854 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:8947 diabetic retinopathy ISO RGD:69169 D RGD:9068941 20200609 RGD Retinal Leukostasis;associated with Diabetes Mellitus, Experimental PMID:17003451|REF_RGD_ID:8552824 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20210794 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9000081 Lymphatic Metastasis ISO RGD:69168 D RGD:9068941 20200609 RGD associated with Cholangiocarcinoma;protein:increased expression:bile duct epithelium PMID:20021832|REF_RGD_ID:2317459 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9000173 Eye Burns ISO RGD:3371 D RGD:9068941 20200609 RGD protein:increased expression:cornea, neutrophil, macrophage (rat) PMID:24194635|REF_RGD_ID:8552904 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9000217 Stomach Neoplasms ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15492468|PMID:19140230 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29162556 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9000641 Pain ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:18387855|REF_RGD_ID:2301890 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9000784 Fibrosis ISO RGD:3371 D RGD:9068941 20200609 RGD associated with Hypertension PMID:18360056|REF_RGD_ID:2301893 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9000784 Fibrosis ISO RGD:69169 D RGD:9068941 20200609 RGD PMID:18511847|REF_RGD_ID:2301856 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:18594976|REF_RGD_ID:2301874 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:22529699|REF_RGD_ID:8553190 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:69168 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:16221712|REF_RGD_ID:13208600 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9002165 Diabetic Nephropathies ISO RGD:3371 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:18388116|REF_RGD_ID:2301862 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9002165 Diabetic Nephropathies ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28182703 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9002165 Diabetic Nephropathies ISO RGD:69169 D RGD:9068941 20200609 RGD PMID:18780770|REF_RGD_ID:2301845 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9002231 Fetal Growth Retardation ISO RGD:3371 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (rat) PMID:21425435|REF_RGD_ID:8552971 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9002311 Experimental Autoimmune Myocarditis ISO RGD:3371 D RGD:9068941 20200609 RGD protein:increased expression:myocardium (rat) PMID:15167281|REF_RGD_ID:8553039 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:69169 D RGD:9068941 20200609 RGD protein:decreased expression:retina (mouse) PMID:18806296|REF_RGD_ID:2301844 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9002928 Colonic Neoplasms ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20540935 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9002955 Nerve Degeneration ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18289512 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9003370 Dyslipidemias ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16168052 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:69168 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:nasal mucosa (human) PMID:17116814|REF_RGD_ID:8552811 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9004009 Reperfusion Injury ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12468449|PMID:24011919|PMID:24433871 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9004547 Thyroid Neoplasms ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15785241 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9004610 Acute Lung Injury ISO RGD:3371 D RGD:9068941 20200609 RGD protein:decreased expression:lung (rat) PMID:16083301|REF_RGD_ID:8553030 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9004610 Acute Lung Injury ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21153920 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3371 D RGD:9068941 20200609 RGD associated with Hypertension PMID:18360056|REF_RGD_ID:2301893 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9004980 Chronobiology Disorders ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22899986 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9005372 Inflammation ISO RGD:3371 D RGD:9068941 20200609 RGD associated with Brain Injuries PMID:18479673|REF_RGD_ID:2301881 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9005372 Inflammation ISO RGD:3371 D RGD:9068941 20200609 RGD associated with Status Epilepticus PMID:18455351|REF_RGD_ID:2301886 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9005372 Inflammation ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19926821|PMID:21354099 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3371 D RGD:9068941 20200609 RGD mRNA:altered expression:aorta, kidney cortex, retina PMID:18641696|REF_RGD_ID:2301849 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12967931|PMID:16123366|PMID:21757225 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69169 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:18806296|REF_RGD_ID:2301844 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9005782 Carotid Intimal Medial Thickness 1 ISO RGD:69168 D RGD:7240710 20180130 OMIM 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9005782 Carotid Intimal Medial Thickness 1 ISO RGD:69168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carotid intimal medial thickness 1 PMID:25741868|PMID:27749844 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9005930 Endotoxemia ISO RGD:3371 D RGD:9068941 20200609 RGD protein:increased expression:small intestine mucosa PMID:21641970|REF_RGD_ID:5135029 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9006182 Carotid Artery Injuries treatment ISO RGD:69169 D RGD:9068941 20200609 RGD mouse gene in a rat model PMID:19339015|REF_RGD_ID:8553019 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9006447 Eye Injuries treatment ISO RGD:69169 D RGD:9068941 20200609 RGD PMID:18658087|REF_RGD_ID:8552893 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15785241 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9006646 Metabolic Syndrome ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:16183630|REF_RGD_ID:1580683 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9006646 Metabolic Syndrome ISO RGD:69168 D RGD:9068941 20200609 RGD PMID:16186413|REF_RGD_ID:1580686 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9006646 Metabolic Syndrome no_association ISO RGD:69168 D RGD:9068941 20200609 RGD DNA:SNP: :p.P12A (human) PMID:18959602|REF_RGD_ID:2301843 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9007188 Liver Neoplasms ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20143881 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:69169 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:26599535|REF_RGD_ID:11554658 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9007692 Insulin Resistance ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16168052|PMID:21354099|PMID:21484566 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9007692 Insulin Resistance ISO RGD:69168 D RGD:9068941 20200609 RGD DNA:nonsense mutation PMID:12118251|REF_RGD_ID:1601446 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:69169 D RGD:9068941 20200609 RGD PMID:18562925|REF_RGD_ID:2301853 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9008443 Colorectal Neoplasms ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16489531 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9074 systemic lupus erythematosus ISO RGD:69169 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9206 Barrett's esophagus ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15387324 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9351 diabetes mellitus ISO RGD:69168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:19748282|PMID:25741868|PMID:27749844|PMID:28492532 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9352 type 2 diabetes mellitus ISO RGD:69168 D RGD:7240710 20180130 OMIM 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9352 type 2 diabetes mellitus ISO RGD:69168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10381354|PMID:10523018|PMID:10622252|PMID:10690291|PMID:10851250|PMID:14569127|PMID:14616762|PMID:14671186|PMID:15254591|PMID:22461176|PMID:25157153|PMID:25741868|PMID:28492532|PMID:9467001|PMID:9792554 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9352 type 2 diabetes mellitus ISO RGD:69168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10381354|PMID:10523018|PMID:10622252|PMID:10690291|PMID:10851250|PMID:12663460|PMID:14569127|PMID:14616762|PMID:14671186|PMID:15254591|PMID:17003330|PMID:22461176|PMID:22539598|PMID:25157153|PMID:25741868|PMID:28492532|PMID:9467001|PMID:9792554 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:69168 D RGD:9068941 20200609 RGD DNA:snp:cds:p.P12A (human) PMID:9918859|REF_RGD_ID:8552822 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:69168 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.P12A (human) PMID:18598350|REF_RGD_ID:2301851 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9452 fatty liver disease ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:15112352|REF_RGD_ID:1580685 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9455 lipid storage disease ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21123845 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9970 obesity ISO RGD:69168 D RGD:7240710 20180130 OMIM 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9970 obesity ISO RGD:69168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency PMID:10381354|PMID:10523018|PMID:10622252|PMID:10690291|PMID:10851250|PMID:14569127|PMID:14616762|PMID:14671186|PMID:15254591|PMID:22461176|PMID:25157153|PMID:25741868|PMID:28492532|PMID:9467001|PMID:9792554 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9970 obesity ISO RGD:69168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Obesity PMID:10381354|PMID:10523018|PMID:10622252|PMID:10690291|PMID:10851250|PMID:12663460|PMID:14569127|PMID:14616762|PMID:14671186|PMID:15254591|PMID:17003330|PMID:22461176|PMID:22539598|PMID:25157153|PMID:25741868|PMID:28492532|PMID:9467001|PMID:9792554 11828941 PPARG peroxisome proliferator activated receptor gamma gene DOID:9970 obesity susceptibility ISO RGD:69168 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:18683148|REF_RGD_ID:2301847 11828987 MIB1 MIB E3 ubiquitin protein ligase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1316242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11828987 MIB1 MIB E3 ubiquitin protein ligase 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1316242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 11828987 MIB1 MIB E3 ubiquitin protein ligase 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1316242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 11828987 MIB1 MIB E3 ubiquitin protein ligase 1 gene DOID:1059 intellectual disability ISO RGD:1316242 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11828987 MIB1 MIB E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1316242 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11828987 MIB1 MIB E3 ubiquitin protein ligase 1 gene DOID:9003397 Atrioventricular Septal Defect 5 ISO RGD:1316242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect 5 PMID:22318994|PMID:28492532 11828987 MIB1 MIB E3 ubiquitin protein ligase 1 gene DOID:9004515 Left Ventricular Noncompaction 7 ISO RGD:1316242 D RGD:7240710 20180130 OMIM 11828987 MIB1 MIB E3 ubiquitin protein ligase 1 gene DOID:9004515 Left Ventricular Noncompaction 7 ISO RGD:1316242 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 7 PMID:23314057|PMID:25741868|PMID:26188975|PMID:28492532|PMID:28530678|PMID:29540472|PMID:30322850|PMID:32880476|PMID:33057194 11828987 MIB1 MIB E3 ubiquitin protein ligase 1 gene DOID:9007614 Paroxysmal Atrial Fibrillation ISO RGD:1316242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal atrial fibrillation 11829015 GASK1B golgi associated kinase 1B gene DOID:0080600 COVID-19 ISO RGD:1605394 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11829015 GASK1B golgi associated kinase 1B gene DOID:630 genetic disease ISO RGD:1605394 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829015 GASK1B golgi associated kinase 1B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11829030 ROPN1L rhophilin associated tail protein 1 like gene DOID:630 genetic disease ISO RGD:1319640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829046 UFSP2 UFM1 specific peptidase 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1605068 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome PMID:25741868|PMID:28492532|PMID:33473208 11829046 UFSP2 UFM1 specific peptidase 2 gene DOID:0111367 Beukes hip dysplasia ISO RGD:1605068 D RGD:7240710 20180130 OMIM 11829046 UFSP2 UFM1 specific peptidase 2 gene DOID:0111367 Beukes hip dysplasia ISO RGD:1605068 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hip dysplasia, Beukes type PMID:21228277|PMID:2389793|PMID:25741868|PMID:26428751|PMID:28492532|PMID:28892125 11829046 UFSP2 UFM1 specific peptidase 2 gene DOID:1059 intellectual disability ISO RGD:1605068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:33473208 11829046 UFSP2 UFM1 specific peptidase 2 gene DOID:10907 microcephaly ISO RGD:1605068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:33473208 11829046 UFSP2 UFM1 specific peptidase 2 gene DOID:12849 autistic disorder ISO RGD:1605068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11829046 UFSP2 UFM1 specific peptidase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1605068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 11829046 UFSP2 UFM1 specific peptidase 2 gene DOID:14784 olivopontocerebellar atrophy ISO RGD:1605068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia PMID:25741868|PMID:28492532|PMID:33473208 11829046 UFSP2 UFM1 specific peptidase 2 gene DOID:1826 epilepsy ISO RGD:1605068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868|PMID:28492532|PMID:33473208 11829046 UFSP2 UFM1 specific peptidase 2 gene DOID:2234 focal epilepsy ISO RGD:1605068 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:25741868|PMID:28492532|PMID:33473208 11829046 UFSP2 UFM1 specific peptidase 2 gene DOID:630 genetic disease ISO RGD:1605068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829046 UFSP2 UFM1 specific peptidase 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:1605068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:28492532|PMID:33473208 11829046 UFSP2 UFM1 specific peptidase 2 gene DOID:9002016 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE ISO RGD:1605068 D RGD:7240710 20190724 OMIM 11829046 UFSP2 UFM1 specific peptidase 2 gene DOID:9002016 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE ISO RGD:1605068 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, di rocco type PMID:21228277|PMID:25741868|PMID:28892125|PMID:32755715 11829046 UFSP2 UFM1 specific peptidase 2 gene DOID:9003512 Developmental and Epileptic Encephalopathy 106 ISO RGD:1605068 D RGD:7240710 20220921 OMIM 11829046 UFSP2 UFM1 specific peptidase 2 gene DOID:9003512 Developmental and Epileptic Encephalopathy 106 ISO RGD:1605068 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 106 PMID:25741868|PMID:28492532|PMID:33473208 11829046 UFSP2 UFM1 specific peptidase 2 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1605068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 11829046 UFSP2 UFM1 specific peptidase 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1605068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:28492532|PMID:33473208 11829046 UFSP2 UFM1 specific peptidase 2 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1605068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 11829062 SFTPC surfactant protein C gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:736728 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:14735158|PMID:15039969|PMID:15516475|PMID:15709974|PMID:18383112|PMID:19443464|PMID:19910179|PMID:22308375|PMID:23025826|PMID:23775869|PMID:24033266|PMID:24081995|PMID:24347114|PMID:25657025|PMID:25741868|PMID:25782673|PMID:27362365|PMID:28492532 11829062 SFTPC surfactant protein C gene DOID:0050158 desquamative interstitial pneumonia ISO RGD:733829 D RGD:9068941 20220825 MouseDO OMIM:263000 11829062 SFTPC surfactant protein C gene DOID:0110342 osteogenesis imperfecta type 13 ISO RGD:736728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiii 11829062 SFTPC surfactant protein C gene DOID:11339 pneumocystosis ISO RGD:733829 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:11385364|REF_RGD_ID:4143431 11829062 SFTPC surfactant protein C gene DOID:11394 adult respiratory distress syndrome ISO RGD:736728 D RGD:9068941 20200609 RGD PMID:9720777|REF_RGD_ID:4144159 11829062 SFTPC surfactant protein C gene DOID:11394 adult respiratory distress syndrome ISO RGD:736728 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:17662121|REF_RGD_ID:4143379 11829062 SFTPC surfactant protein C gene DOID:11612 polycystic ovary syndrome ISO RGD:736728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11829062 SFTPC surfactant protein C gene DOID:12053 cryptococcosis ISO RGD:733829 D RGD:9068941 20200827 RGD mRNA:increased expression:lung (mouse) PMID:27596810|REF_RGD_ID:38549345 11829062 SFTPC surfactant protein C gene DOID:12347 osteogenesis imperfecta ISO RGD:736728 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive PMID:24033266|PMID:25741868|PMID:28492532 11829062 SFTPC surfactant protein C gene DOID:12716 newborn respiratory distress syndrome ISO RGD:3666 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung PMID:11504697|REF_RGD_ID:4143428 11829062 SFTPC surfactant protein C gene DOID:12716 newborn respiratory distress syndrome ISO RGD:736728 D RGD:9068941 20200609 RGD protein:altered processing:amniotic fluid, lung PMID:7537464|REF_RGD_ID:4144127 11829062 SFTPC surfactant protein C gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:733829 D RGD:9068941 20200609 RGD PMID:19304906|REF_RGD_ID:4144065 11829062 SFTPC surfactant protein C gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:736728 D RGD:9068941 20200609 RGD DNA:polymorphism: :138A>C, 186A>G (human) PMID:17121584|REF_RGD_ID:4144116 11829062 SFTPC surfactant protein C gene DOID:1485 cystic fibrosis ISO RGD:736728 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15271694|REF_RGD_ID:4143403 11829062 SFTPC surfactant protein C gene DOID:2841 asthma ISO RGD:733829 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung PMID:11472974|REF_RGD_ID:4143465 11829062 SFTPC surfactant protein C gene DOID:2841 asthma ISO RGD:736728 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:16629790|REF_RGD_ID:4143462 11829062 SFTPC surfactant protein C gene DOID:2841 asthma susceptibility ISO RGD:736728 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A53T (human) PMID:19910179|REF_RGD_ID:4144063 11829062 SFTPC surfactant protein C gene DOID:3082 interstitial lung disease ISO RGD:733829 D RGD:9068941 20200609 RGD PMID:12519727|REF_RGD_ID:4143413 11829062 SFTPC surfactant protein C gene DOID:3082 interstitial lung disease ISO RGD:736728 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.I73T (human) PMID:15756222|REF_RGD_ID:4143400 11829062 SFTPC surfactant protein C gene DOID:3082 interstitial lung disease ISO RGD:736728 D RGD:9068941 20200609 RGD DNA:mutations: :multiple (human) PMID:19443464|REF_RGD_ID:4144064 11829062 SFTPC surfactant protein C gene DOID:3082 interstitial lung disease ISO RGD:736728 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:11445799|REF_RGD_ID:4143430 11829062 SFTPC surfactant protein C gene DOID:3082 interstitial lung disease susceptibility ISO RGD:736728 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.N186S (human) PMID:16423270|REF_RGD_ID:4144126 11829062 SFTPC surfactant protein C gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:736728 D RGD:9068941 20200609 RGD DNA:polymorphism: :186A>G (human) PMID:18038590|REF_RGD_ID:4144115 11829062 SFTPC surfactant protein C gene DOID:3770 pulmonary fibrosis ISO RGD:736728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:15039969|PMID:15293602|PMID:15572558|PMID:15756222|PMID:17597647|PMID:19443464|PMID:21092132|PMID:21707890|PMID:22308375|PMID:25657025|PMID:25741868|PMID:27362365|PMID:28492532|PMID:31081264 11829062 SFTPC surfactant protein C gene DOID:3770 pulmonary fibrosis susceptibility ISO RGD:736728 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.M71V, p.I73T (human) PMID:20656946|REF_RGD_ID:4144060 11829062 SFTPC surfactant protein C gene DOID:3910 lung adenocarcinoma ISO RGD:736728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25851810 11829062 SFTPC surfactant protein C gene DOID:423 myopathy ISO RGD:736728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 11829062 SFTPC surfactant protein C gene DOID:552 pneumonia ISO RGD:733829 D RGD:9068941 20200609 RGD PMID:15967375|REF_RGD_ID:4143394 11829062 SFTPC surfactant protein C gene DOID:630 genetic disease ISO RGD:736728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22308375 11829062 SFTPC surfactant protein C gene DOID:850 lung disease ISO RGD:736728 D RGD:9068941 20200609 RGD Acute Lung Injury;mRNA:increased expression:pneumocyte PMID:8569184|REF_RGD_ID:4143451 11829062 SFTPC surfactant protein C gene DOID:850 lung disease ISO RGD:736728 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.I73T (human) PMID:16910460|REF_RGD_ID:4144117 11829062 SFTPC surfactant protein C gene DOID:850 lung disease ISO RGD:736728 D RGD:9068941 20200609 RGD surfactant metabolism dysfunction SMDP2,OMIM:610913;DNA:point mutation:intron:460+1G>A (human) PMID:11207353|REF_RGD_ID:1624153 11829062 SFTPC surfactant protein C gene DOID:850 lung disease ISO RGD:737198 D RGD:9068941 20200609 RGD Lung Injury PMID:11796659|REF_RGD_ID:4143420 11829062 SFTPC surfactant protein C gene DOID:874 bacterial pneumonia ISO RGD:3666 D RGD:9068941 20200609 RGD PMID:12169586|REF_RGD_ID:4143464 11829062 SFTPC surfactant protein C gene DOID:874 bacterial pneumonia ISO RGD:733829 D RGD:9068941 20200609 RGD PMID:18566429|REF_RGD_ID:4144114 11829062 SFTPC surfactant protein C gene DOID:9000613 Hyaline Membrane Disease ISO RGD:736728 D RGD:9068941 20200609 RGD PMID:9655740|REF_RGD_ID:4143444 11829062 SFTPC surfactant protein C gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:733829 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:14748931|REF_RGD_ID:4143407 11829062 SFTPC surfactant protein C gene DOID:9001026 Pulmonary Surfactant Metabolism Dysfunction 1 ISO RGD:736728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1 PMID:25741868 11829062 SFTPC surfactant protein C gene DOID:9003953 Surfactant Dysfunction ISO RGD:736728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction PMID:11893657|PMID:14735158|PMID:15039969|PMID:15293602|PMID:15516475|PMID:15557112|PMID:15572558|PMID:15709974|PMID:15756222|PMID:17597647|PMID:18383112|PMID:19443464|PMID:19910179|PMID:20403820|PMID:20463293|PMID:20658481|PMID:21092132|PMID:21707890|PMID:22308375|PMID:22458263|PMID:23775869|PMID:24033266|PMID:24081995|PMID:24347114|PMID:25657025|PMID:25741868|PMID:27362365|PMID:28157837|PMID:28492532|PMID:29805340|PMID:31081264 11829062 SFTPC surfactant protein C gene DOID:9004009 Reperfusion Injury ISO RGD:3666 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:20560845|REF_RGD_ID:4144062 11829062 SFTPC surfactant protein C gene DOID:9005976 Pulmonary Surfactant Metabolism Dysfunction 2 ISO RGD:736728 D RGD:7240710 20180130 OMIM 11829062 SFTPC surfactant protein C gene DOID:9005976 Pulmonary Surfactant Metabolism Dysfunction 2 ISO RGD:736728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2 PMID:11207353|PMID:11893657|PMID:11991887|PMID:12538769|PMID:13817571|PMID:14735158|PMID:15039969|PMID:15293602|PMID:15516475|PMID:15572558|PMID:15647591|PMID:15709974|PMID:15756222|PMID:17597647|PMID:18383112|PMID:19443464|PMID:19910179|PMID:20403820|PMID:20658481|PMID:21092132|PMID:21707890|PMID:22308375|PMID:23025826|PMID:23166334|PMID:23775869|PMID:24033266|PMID:24081995|PMID:24347114|PMID:25105258|PMID:25657025|PMID:25741868|PMID:25782673|PMID:27362365|PMID:28492532|PMID:29554876|PMID:31081264|PMID:5942662 11829062 SFTPC surfactant protein C gene DOID:9007480 Hyperoxia ISO RGD:3666 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:11472975|REF_RGD_ID:4143429 11829062 SFTPC surfactant protein C gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:736728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 11829062 SFTPC surfactant protein C gene DOID:9009073 Diaphragmatic Hernia ISO RGD:736728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10751355 11829062 SFTPC surfactant protein C gene DOID:9675 pulmonary emphysema susceptibility ISO RGD:736728 D RGD:9068941 20200609 RGD DNA:polymorphism: :138A>C, 186A>G (human) PMID:18038590|REF_RGD_ID:4144115 11829086 CPNE2 copine 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1319355 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11829086 CPNE2 copine 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1319355 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11829086 CPNE2 copine 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1319355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11829086 CPNE2 copine 2 gene DOID:630 genetic disease ISO RGD:1319355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829107 EXOSC5 exosome component 5 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1317301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11829107 EXOSC5 exosome component 5 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1317301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11829107 EXOSC5 exosome component 5 gene DOID:2340 craniosynostosis ISO RGD:1317301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11829107 EXOSC5 exosome component 5 gene DOID:630 genetic disease ISO RGD:1317301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829107 EXOSC5 exosome component 5 gene DOID:9000217 Stomach Neoplasms ISO RGD:1317301 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11829107 EXOSC5 exosome component 5 gene DOID:9000918 Disease Progression ISO RGD:1317301 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11829107 EXOSC5 exosome component 5 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1317301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11829107 EXOSC5 exosome component 5 gene DOID:9003258 CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS ISO RGD:1317301 D RGD:7240710 20211208 OMIM 11829107 EXOSC5 exosome component 5 gene DOID:9003258 CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS ISO RGD:1317301 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects PMID:25741868|PMID:29302074|PMID:30950035|PMID:32504085|PMID:34089229 11829107 EXOSC5 exosome component 5 gene DOID:9269 maple syrup urine disease ISO RGD:1317301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11829118 RMND1 required for meiotic nuclear division 1 homolog gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1319942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder PMID:24033266|PMID:25058219|PMID:25326635|PMID:25604853|PMID:25741868|PMID:26395190|PMID:27159321|PMID:27350610|PMID:27412952|PMID:27843092|PMID:28492532|PMID:31506229|PMID:31568715|PMID:32576985 11829118 RMND1 required for meiotic nuclear division 1 homolog gene DOID:0111112 nephronophthisis 1 ISO RGD:1319942 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:24033266|PMID:25058219|PMID:25326635|PMID:25604853|PMID:25741868|PMID:26395190|PMID:27159321|PMID:27350610|PMID:27412952|PMID:27843092|PMID:28492532|PMID:31506229|PMID:31568715|PMID:32576985 11829118 RMND1 required for meiotic nuclear division 1 homolog gene DOID:0111481 combined oxidative phosphorylation deficiency 11 ISO RGD:1319942 D RGD:7240710 20180130 OMIM 11829118 RMND1 required for meiotic nuclear division 1 homolog gene DOID:0111481 combined oxidative phosphorylation deficiency 11 ISO RGD:1319942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 11 PMID:18835491|PMID:23022098|PMID:23022099|PMID:24033266|PMID:25058219|PMID:25326635|PMID:25604853|PMID:25741868|PMID:26395190|PMID:27159321|PMID:27350610|PMID:27412952|PMID:27843092|PMID:28492532|PMID:31506229|PMID:31568715|PMID:31981491|PMID:32576985 11829118 RMND1 required for meiotic nuclear division 1 homolog gene DOID:12712 nephronophthisis ISO RGD:1319942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:24033266|PMID:25058219|PMID:25326635|PMID:25604853|PMID:25741868|PMID:26395190|PMID:27159321|PMID:27350610|PMID:27412952|PMID:27843092|PMID:28492532|PMID:31506229|PMID:31568715|PMID:32576985 11829118 RMND1 required for meiotic nuclear division 1 homolog gene DOID:630 genetic disease ISO RGD:1319942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25058219|PMID:25741868|PMID:27412952|PMID:28492532 11829118 RMND1 required for meiotic nuclear division 1 homolog gene DOID:700 mitochondrial metabolism disease ISO RGD:1319942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:23022098|PMID:24033266|PMID:25058219|PMID:25326635|PMID:25604853|PMID:25741868|PMID:26395190|PMID:27159321|PMID:27350610|PMID:27412952|PMID:27843092|PMID:28492532|PMID:31506229|PMID:31568715|PMID:32576985 11829118 RMND1 required for meiotic nuclear division 1 homolog gene DOID:9006534 Nervous System Malformations ISO RGD:1319942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:18835491|PMID:23022099|PMID:25741868 11829118 RMND1 required for meiotic nuclear division 1 homolog gene DOID:9008939 Breast Neoplasms ISO RGD:1319942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 11829138 CLSTN2 calsyntenin 2 gene DOID:630 genetic disease ISO RGD:1350123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829138 CLSTN2 calsyntenin 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1350123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11829164 BLTP2 bridge-like lipid transfer protein family member 2 gene DOID:10283 prostate cancer ISO RGD:1605423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11829164 BLTP2 bridge-like lipid transfer protein family member 2 gene DOID:630 genetic disease ISO RGD:1605423 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829231 NIPSNAP1 nipsnap homolog 1 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1321311 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 11829231 NIPSNAP1 nipsnap homolog 1 gene DOID:630 genetic disease ISO RGD:1321311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829231 NIPSNAP1 nipsnap homolog 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1321311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 11829245 CEP135 centrosomal protein 135 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1350849 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 11829245 CEP135 centrosomal protein 135 gene DOID:0070282 primary autosomal recessive microcephaly 8 ISO RGD:1350849 D RGD:7240710 20180130 OMIM 11829245 CEP135 centrosomal protein 135 gene DOID:0070282 primary autosomal recessive microcephaly 8 ISO RGD:1350849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly 8, primary, autosomal recessive PMID:22521416|PMID:25741868|PMID:26657937|PMID:28492532|PMID:30214071|PMID:31696992 11829245 CEP135 centrosomal protein 135 gene DOID:630 genetic disease ISO RGD:1350849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:22521416|PMID:25741868|PMID:26657937|PMID:28492532|PMID:31696992|PMID:9536098 11829275 DEGS1 delta 4-desaturase, sphingolipid 1 gene DOID:10579 leukodystrophy ISO RGD:1605117 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:25741868|PMID:30620337|PMID:31186544 11829275 DEGS1 delta 4-desaturase, sphingolipid 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1605117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11829275 DEGS1 delta 4-desaturase, sphingolipid 1 gene DOID:630 genetic disease ISO RGD:1605117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30620337 11829275 DEGS1 delta 4-desaturase, sphingolipid 1 gene DOID:9000521 Hypomyelinating Leukodystrophy 18 ISO RGD:1605117 D RGD:7240710 20190515 OMIM 11829275 DEGS1 delta 4-desaturase, sphingolipid 1 gene DOID:9000521 Hypomyelinating Leukodystrophy 18 ISO RGD:1605117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 18 PMID:25741868|PMID:30620337|PMID:30620338|PMID:31186544 11829275 DEGS1 delta 4-desaturase, sphingolipid 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11829275 DEGS1 delta 4-desaturase, sphingolipid 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11829285 INSYN1 inhibitory synaptic factor 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:2298735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11829285 INSYN1 inhibitory synaptic factor 1 gene DOID:2717 Bloom syndrome ISO RGD:2298735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11829285 INSYN1 inhibitory synaptic factor 1 gene DOID:3320 Tay-Sachs disease ISO RGD:2298735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 11829285 INSYN1 inhibitory synaptic factor 1 gene DOID:5419 schizophrenia ISO RGD:2298735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11829285 INSYN1 inhibitory synaptic factor 1 gene DOID:9256 colorectal cancer ISO RGD:2298735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11829292 STIM1 stromal interaction molecule 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11829292 STIM1 stromal interaction molecule 1 gene DOID:0060354 Stormorken syndrome ISO RGD:1315668 D RGD:7240710 20180130 OMIM 11829292 STIM1 stromal interaction molecule 1 gene DOID:0060354 Stormorken syndrome ISO RGD:1315668 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Stormorken syndrome PMID:12623447|PMID:12745453|PMID:12944247|PMID:12944248|PMID:16199547|PMID:17576681|PMID:19420366|PMID:20876309|PMID:22190180|PMID:23332920|PMID:23851458|PMID:24033266|PMID:24492416|PMID:24570283|PMID:24591628|PMID:24619930|PMID:25044882|PMID:25326555|PMID:25577287|PMID:25640679|PMID:25741868|PMID:25918394|PMID:26184105|PMID:26255678|PMID:26436962|PMID:27066587|PMID:27239559|PMID:28492532|PMID:28624464|PMID:29237733|PMID:31844136|PMID:32098964|PMID:33468626|PMID:33628209|PMID:34498097|PMID:4085141|PMID:9536098 11829292 STIM1 stromal interaction molecule 1 gene DOID:0060758 immunodeficiency with hyper-IgM type 2 ISO RGD:1315668 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 PMID:25741868 11829292 STIM1 stromal interaction molecule 1 gene DOID:0080089 tubular aggregate myopathy 1 ISO RGD:1315668 D RGD:7240710 20190315 OMIM 11829292 STIM1 stromal interaction molecule 1 gene DOID:0080089 tubular aggregate myopathy 1 ISO RGD:1315668 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myopathy, tubular aggregate, 1 PMID:12623447|PMID:12745453|PMID:12944247|PMID:12944248|PMID:19420366|PMID:20876309|PMID:23332920|PMID:24033266|PMID:24570283|PMID:25326555|PMID:25577287|PMID:25741868|PMID:28492532 11829292 STIM1 stromal interaction molecule 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1315668 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11829292 STIM1 stromal interaction molecule 1 gene DOID:0111970 immunodeficiency 10 ISO RGD:1315668 D RGD:7240710 20180130 OMIM 11829292 STIM1 stromal interaction molecule 1 gene DOID:0111970 immunodeficiency 10 ISO RGD:1315668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to STIM1 deficiency PMID:19420366|PMID:20876309|PMID:21427704|PMID:22190180|PMID:24033266|PMID:24621671|PMID:25741868|PMID:25918394|PMID:26560041|PMID:28492532|PMID:31844136|PMID:32098964|PMID:33628209 11829292 STIM1 stromal interaction molecule 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11829292 STIM1 stromal interaction molecule 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1315668 D RGD:9068941 20220616 RGD protein:increased expression:stomach (human) PMID:27035326|REF_RGD_ID:152995363 11829292 STIM1 stromal interaction molecule 1 gene DOID:10763 hypertension ISO RGD:1315668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19897708 11829292 STIM1 stromal interaction molecule 1 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:1306831 D RGD:9068941 20210917 RGD DNA:missense mutation:cds:premature stop codon PMID:26574044|REF_RGD_ID:150429659 11829292 STIM1 stromal interaction molecule 1 gene DOID:1324 lung cancer ameliorates ISO RGD:1315668 D RGD:9068941 20220616 RGD human cells in mouse model PMID:27863410|REF_RGD_ID:152995356 11829292 STIM1 stromal interaction molecule 1 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:1315668 D RGD:9068941 20220616 RGD protein:increased expression:esophagus (human) PMID:31843504|REF_RGD_ID:152995393 11829292 STIM1 stromal interaction molecule 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1315668 D RGD:9068941 20220616 RGD mRNA:increased expression:blood plasma (human) PMID:32184656|REF_RGD_ID:152995359 11829292 STIM1 stromal interaction molecule 1 gene DOID:422 congenital structural myopathy ISO RGD:1315668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11829292 STIM1 stromal interaction molecule 1 gene DOID:630 genetic disease ISO RGD:1315668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11829292 STIM1 stromal interaction molecule 1 gene DOID:6364 migraine ISO RGD:1315668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Migraine PMID:25741868 11829292 STIM1 stromal interaction molecule 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1315668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11829292 STIM1 stromal interaction molecule 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1315668 D RGD:9068941 20220616 RGD mRNA:increased expression:liver (human) PMID:23211538|REF_RGD_ID:152995401 11829292 STIM1 stromal interaction molecule 1 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:1315668 D RGD:9068941 20220616 RGD associated with nasopharynx carcinoma; human cells in mouse model PMID:32165272|REF_RGD_ID:152995361 11829292 STIM1 stromal interaction molecule 1 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:1315668 D RGD:9068941 20220616 RGD human cells in mouse model;associated with lung cancer PMID:28713917|REF_RGD_ID:152995357 11829292 STIM1 stromal interaction molecule 1 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:1347076 D RGD:9068941 20220616 RGD associated with hepatocellular carcinoma; human cells in mouse model PMID:32483465|REF_RGD_ID:152995387 11829292 STIM1 stromal interaction molecule 1 gene DOID:9000965 Neoplasm Metastasis exacerbates ISO RGD:1315668 D RGD:9068941 20220616 RGD associated with hepatocellular carcinoma;protein:decreased expression:liver (human) PMID:32483465|REF_RGD_ID:152995387 11829292 STIM1 stromal interaction molecule 1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1315668 D RGD:9068941 20220616 RGD associated with stomach cancer; human cells in mouse model PMID:27431311|REF_RGD_ID:152995400 11829292 STIM1 stromal interaction molecule 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:1315668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27863410 11829292 STIM1 stromal interaction molecule 1 gene DOID:9002514 Neointima ameliorates ISO RGD:1306831 D RGD:9068941 20220421 RGD PMID:19107116|REF_RGD_ID:151893459 11829292 STIM1 stromal interaction molecule 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1315668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27863410 11829292 STIM1 stromal interaction molecule 1 gene DOID:9253 gastrointestinal stromal tumor ameliorates ISO RGD:1315668 D RGD:9068941 20220616 RGD human cells in mouse model PMID:29957833|REF_RGD_ID:152995399 11829292 STIM1 stromal interaction molecule 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1315668 D RGD:9068941 20220616 RGD mRNA,protein:increased expression:colorectum (human) PMID:25381814|PMID:25531324|REF_RGD_ID:152995364|REF_RGD_ID:152995402 11829292 STIM1 stromal interaction molecule 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1315668 D RGD:9068941 20220617 RGD DNA:SNPs:intron, 3'utr: (rs3794050,rs7934581,rs3750996) (human) PMID:33470690|REF_RGD_ID:152995405 11829308 MAMSTR MEF2 activating motif and SAP domain containing transcriptional regulator gene DOID:630 genetic disease ISO RGD:1604486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829321 RIPOR1 RHO family interacting cell polarization regulator 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1606508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11829321 RIPOR1 RHO family interacting cell polarization regulator 1 gene DOID:630 genetic disease ISO RGD:1606508 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829347 TRHR thyrotropin releasing hormone receptor gene DOID:0050328 congenital hypothyroidism ISO RGD:11453 D RGD:9068941 20220825 MouseDO 11829347 TRHR thyrotropin releasing hormone receptor gene DOID:0111836 congenital nongoitrous hypothyroidism 7 ISO RGD:737056 D RGD:7240710 20190911 OMIM 11829347 TRHR thyrotropin releasing hormone receptor gene DOID:0111836 congenital nongoitrous hypothyroidism 7 ISO RGD:737056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 7 PMID:19213692|PMID:25741868|PMID:26735259|PMID:28419241|PMID:9141550 11829347 TRHR thyrotropin releasing hormone receptor gene DOID:10763 hypertension ISO RGD:3904 D RGD:9068941 20200609 RGD PMID:7554113|REF_RGD_ID:1580745 11829347 TRHR thyrotropin releasing hormone receptor gene DOID:10763 hypertension ISO RGD:737056 D RGD:9068941 20200609 RGD PMID:11566956|REF_RGD_ID:1580744 11829347 TRHR thyrotropin releasing hormone receptor gene DOID:11633 thyroid hormone resistance syndrome ISO RGD:737056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9141550 11829347 TRHR thyrotropin releasing hormone receptor gene DOID:1459 hypothyroidism ISO RGD:737056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9141550 11829347 TRHR thyrotropin releasing hormone receptor gene DOID:630 genetic disease ISO RGD:737056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829354 ANKRD66 ankyrin repeat domain 66 gene DOID:630 genetic disease ISO RGD:7204990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829363 ENO2 enolase 2 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:733932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11829363 ENO2 enolase 2 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:733932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11829363 ENO2 enolase 2 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:733932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11829363 ENO2 enolase 2 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:733932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11829363 ENO2 enolase 2 gene DOID:0080855 Parkinsonism ISO RGD:2554 D RGD:9068941 20200609 RGD PMID:17532790|REF_RGD_ID:2293747 11829363 ENO2 enolase 2 gene DOID:0111621 Temtamy syndrome ISO RGD:733932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11829363 ENO2 enolase 2 gene DOID:10283 prostate cancer ISO RGD:733932 D RGD:9068941 20200609 RGD PMID:15239127|REF_RGD_ID:2293734 11829363 ENO2 enolase 2 gene DOID:10763 hypertension severity ISO RGD:733932 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21130083|REF_RGD_ID:5508770 11829363 ENO2 enolase 2 gene DOID:11054 urinary bladder cancer ISO RGD:733932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22613180 11829363 ENO2 enolase 2 gene DOID:11054 urinary bladder cancer ISO RGD:733932 D RGD:9068941 20200609 RGD PMID:17951193|REF_RGD_ID:2293738 11829363 ENO2 enolase 2 gene DOID:11832 visual epilepsy ISO RGD:2554 D RGD:9068941 20200609 RGD protein:altered expression:cerebrospinal fluid PMID:15464860|REF_RGD_ID:5509052 11829363 ENO2 enolase 2 gene DOID:12217 Lewy body dementia ISO RGD:733932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30236862 11829363 ENO2 enolase 2 gene DOID:12783 migraine without aura ISO RGD:733932 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21293918|REF_RGD_ID:5508769 11829363 ENO2 enolase 2 gene DOID:14115 toxic shock syndrome ISO RGD:2554 D RGD:9068941 20200609 RGD proteiin:increased expression:serum PMID:17083782|REF_RGD_ID:2293748 11829363 ENO2 enolase 2 gene DOID:14330 Parkinson's disease ISO RGD:733932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30236862 11829363 ENO2 enolase 2 gene DOID:1800 neuroendocrine carcinoma ISO RGD:733932 D RGD:9068941 20200609 RGD PMID:15010880|REF_RGD_ID:2293735 11829363 ENO2 enolase 2 gene DOID:3459 breast carcinoma ISO RGD:733932 D RGD:9068941 20200609 RGD PMID:16608642|REF_RGD_ID:2293740 11829363 ENO2 enolase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21595568 11829363 ENO2 enolase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11829363 ENO2 enolase 2 gene DOID:630 genetic disease ISO RGD:733932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829363 ENO2 enolase 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2554 D RGD:9068941 20200609 RGD protein:increased expression:serum, cerebrospinal fluid PMID:18343116|REF_RGD_ID:2293743 11829363 ENO2 enolase 2 gene DOID:9000367 Multiple Trauma ISO RGD:733932 D RGD:9068941 20200609 RGD PMID:16044081|REF_RGD_ID:2293751 11829363 ENO2 enolase 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:733932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2910524 11829363 ENO2 enolase 2 gene DOID:9002170 Experimental Neoplasms ISO RGD:733932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22613180 11829363 ENO2 enolase 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:733932 D RGD:9068941 20200609 RGD PMID:18459456|REF_RGD_ID:2293736 11829363 ENO2 enolase 2 gene DOID:9002573 Nerve Tissue Neoplasms ISO RGD:2554 D RGD:9068941 20200609 RGD PMID:17537454|REF_RGD_ID:2293746 11829363 ENO2 enolase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:2554 D RGD:9068941 20200609 RGD PMID:17683050|REF_RGD_ID:2293745 11829363 ENO2 enolase 2 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:733932 D RGD:9068941 20200609 RGD PMID:18156975|REF_RGD_ID:2293737 11829363 ENO2 enolase 2 gene DOID:9004462 Atrophy severity ISO RGD:733932 D RGD:9068941 20200609 RGD associated with Alzheimer Disease PMID:20105309|REF_RGD_ID:5508787 11829363 ENO2 enolase 2 gene DOID:9004643 Urologic Neoplasms ISO RGD:733932 D RGD:9068941 20200609 RGD PMID:12656306|REF_RGD_ID:2293741 11829363 ENO2 enolase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2554 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:15780189|REF_RGD_ID:2293753 11829363 ENO2 enolase 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22613180 11829363 ENO2 enolase 2 gene DOID:9007787 Carcinoid Tumor ISO RGD:733932 D RGD:9068941 20200609 RGD PMID:17345775|REF_RGD_ID:2293739 11829363 ENO2 enolase 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:733932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11829363 ENO2 enolase 2 gene DOID:9119 acute myeloid leukemia ISO RGD:733932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11829363 ENO2 enolase 2 gene DOID:936 brain disease disease_progression ISO RGD:733932 D RGD:9068941 20200609 RGD PMID:20847541|REF_RGD_ID:5508782 11829385 ISM2 isthmin 2 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1603577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:28492532 11829385 ISM2 isthmin 2 gene DOID:630 genetic disease ISO RGD:1603577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829399 CRLS1 cardiolipin synthase 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1322279 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11829399 CRLS1 cardiolipin synthase 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1322279 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11829399 CRLS1 cardiolipin synthase 1 gene DOID:630 genetic disease ISO RGD:1322279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829399 CRLS1 cardiolipin synthase 1 gene DOID:9001293 Combined Oxidative Phosphorylation Deficiency 57 ISO RGD:1322279 D RGD:7240710 20230125 OMIM 11829399 CRLS1 cardiolipin synthase 1 gene DOID:9001293 Combined Oxidative Phosphorylation Deficiency 57 ISO RGD:1322279 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 57 PMID:35147173 11829421 RPL7L1 ribosomal protein L7 like 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1352288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11829421 RPL7L1 ribosomal protein L7 like 1 gene DOID:630 genetic disease ISO RGD:1352288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829421 RPL7L1 ribosomal protein L7 like 1 gene DOID:905 Zellweger syndrome ISO RGD:1352288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11829431 GYG2 glycogenin 2 gene DOID:12849 autistic disorder ISO RGD:1344312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11829431 GYG2 glycogenin 2 gene DOID:630 genetic disease ISO RGD:1344312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11829431 GYG2 glycogenin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11829467 MCF2 MCF.2 cell line derived transforming sequence gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11829467 MCF2 MCF.2 cell line derived transforming sequence gene DOID:12259 hemophilia B ISO RGD:1345996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary factor IX deficiency disease PMID:2198809|PMID:24375831|PMID:28492532|PMID:3029178|PMID:4045960|PMID:8304338 11829467 MCF2 MCF.2 cell line derived transforming sequence gene DOID:12849 autistic disorder ISO RGD:1345996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11829467 MCF2 MCF.2 cell line derived transforming sequence gene DOID:630 genetic disease ISO RGD:1345996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829513 ZBED6 zinc finger BED-type containing 6 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:3322020 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11829513 ZBED6 zinc finger BED-type containing 6 gene DOID:1540 parathyroid carcinoma ISO RGD:3322020 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11829513 ZBED6 zinc finger BED-type containing 6 gene DOID:630 genetic disease ISO RGD:3322020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829513 ZBED6 zinc finger BED-type containing 6 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:3322020 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11829513 ZBED6 zinc finger BED-type containing 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:3322020 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11829535 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1322801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I 11829535 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1322801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22131434|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24088667|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25510381|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29525178|PMID:29650794|PMID:30373780|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31743256|PMID:32376792|PMID:32385536|PMID:33502061|PMID:9536098 11829535 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1322801 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22131434|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25510381|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:31743256|PMID:32022442|PMID:32376792|PMID:32385536|PMID:33502061|PMID:9536098 11829535 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1322801 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:31743256|PMID:32022442|PMID:32376792|PMID:32385536|PMID:33502061|PMID:34426522|PMID:9536098 11829535 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1322801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24088667|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25640679|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:26742954|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28859335|PMID:28889094|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30552426|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:31743256|PMID:32022442|PMID:32376792|PMID:32385536|PMID:32385905|PMID:33502061|PMID:34122524|PMID:34169998|PMID:34426522|PMID:9536098 11829535 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1322801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant 11829535 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:0060202 amyotrophic lateral sclerosis type 11 ISO RGD:1322801 D RGD:7240710 20180130 OMIM 11829535 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:0060202 amyotrophic lateral sclerosis type 11 ISO RGD:1322801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 11 PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26467025|PMID:26662798|PMID:26742954|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31743256|PMID:32022442|PMID:32376792|PMID:32385536|PMID:33502061|PMID:34426522|PMID:9536098 11829535 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:0060589 Yunis-Varon syndrome ISO RGD:1322801 D RGD:7240710 20180130 OMIM 11829535 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:0060589 Yunis-Varon syndrome ISO RGD:1322801 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Yunis-Varon syndrome PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:20932945|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:2319578|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30792901|PMID:31313076|PMID:31475037|PMID:31743256|PMID:32022442|PMID:32376792|PMID:32385536|PMID:7496176|PMID:9536098 11829535 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:0080923 bilateral parasagittal parieto-occipital polymicrogyria ISO RGD:1322801 D RGD:7240710 20180130 OMIM 11829535 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:0080923 bilateral parasagittal parieto-occipital polymicrogyria ISO RGD:1322801 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bilateral parasagittal parieto-occipital polymicrogyria | ClinVar Annotator: match by term: Polymicrogyria, bilateral temporooccipital PMID:17572665|PMID:18180444|PMID:18261132|PMID:18556664|PMID:18758830|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24598713|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29468183|PMID:29518270|PMID:30373780|PMID:30792901|PMID:31313076|PMID:31743256|PMID:32022442|PMID:32385536 11829535 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:0110184 Charcot-Marie-Tooth disease type 4J ISO RGD:1322801 D RGD:7240710 20180130 OMIM 11829535 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:0110184 Charcot-Marie-Tooth disease type 4J ISO RGD:1322801 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4J PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29342275|PMID:29468183|PMID:29650794|PMID:30373780|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31743256|PMID:32022442|PMID:32376792|PMID:32385536|PMID:33502061|PMID:34426522|PMID:9536098 11829535 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:1322801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy 11829535 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1322801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:16199547|PMID:17572665|PMID:17576681|PMID:19118816|PMID:21705420|PMID:23336365|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25614874|PMID:25741868|PMID:26467025|PMID:28051077|PMID:28492532|PMID:29518270|PMID:31313076|PMID:32385536|PMID:9536098 11829535 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1322801 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease PMID:17572665|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29468183|PMID:30373780|PMID:30792901|PMID:31313076|PMID:31743256|PMID:32022442 11829535 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:630 genetic disease ISO RGD:1322801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30552426|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:31743256|PMID:32022442|PMID:32376792|PMID:32385536|PMID:34169998|PMID:34426522|PMID:9536098 11829535 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:9000495 Tremor ISO RGD:1322801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:21705420|PMID:28492532 11829535 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:9001276 Failure to Thrive ISO RGD:1322801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868 11829535 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:9005668 Dental Medial Diastema ISO RGD:1322801 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diastema, dental medial PMID:25741868|PMID:28492532 11829563 AURKB aurora kinase B gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:731309 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11829563 AURKB aurora kinase B gene DOID:0080600 COVID-19 ISO RGD:731309 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11829563 AURKB aurora kinase B gene DOID:12177 common variable immunodeficiency ISO RGD:731309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11829563 AURKB aurora kinase B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:731309 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11829563 AURKB aurora kinase B gene DOID:2729 dyskeratosis congenita ISO RGD:731309 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11829563 AURKB aurora kinase B gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:731309 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:endometrium PMID:16311121|REF_RGD_ID:2293878 11829563 AURKB aurora kinase B gene DOID:2986 IgA glomerulonephritis ISO RGD:731309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 11829563 AURKB aurora kinase B gene DOID:3012 Li-Fraumeni syndrome ISO RGD:731309 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 11829563 AURKB aurora kinase B gene DOID:630 genetic disease ISO RGD:731309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829563 AURKB aurora kinase B gene DOID:684 hepatocellular carcinoma ISO RGD:731309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11829563 AURKB aurora kinase B gene DOID:8634 prostate carcinoma in situ ISO RGD:731309 D RGD:9068941 20200609 RGD PMID:16707419|REF_RGD_ID:2293877 11829563 AURKB aurora kinase B gene DOID:9000217 Stomach Neoplasms ISO RGD:731309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15993841 11829563 AURKB aurora kinase B gene DOID:9002304 Prostatic Neoplasms ISO RGD:731309 D RGD:9068941 20200609 RGD PMID:16707419|REF_RGD_ID:2293877 11829563 AURKB aurora kinase B gene DOID:9002304 Prostatic Neoplasms ISO RGD:731310 D RGD:9068941 20200609 RGD PMID:16707419|REF_RGD_ID:2293877 11829563 AURKB aurora kinase B gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:731309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 11829604 RNASEH1 ribonuclease H1 gene DOID:0111515 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 ISO RGD:1319116 D RGD:7240710 20180130 OMIM 11829604 RNASEH1 ribonuclease H1 gene DOID:0111515 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 ISO RGD:1319116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 PMID:25741868|PMID:26094573|PMID:28492532|PMID:28508084 11829604 RNASEH1 ribonuclease H1 gene DOID:0111881 Diamond-Blackfan anemia 8 ISO RGD:1319116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 PMID:28492532 11829604 RNASEH1 ribonuclease H1 gene DOID:630 genetic disease ISO RGD:1319116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11829624 ABLIM3 actin binding LIM protein family member 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1354406 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11829624 ABLIM3 actin binding LIM protein family member 3 gene DOID:630 genetic disease ISO RGD:1354406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829624 ABLIM3 actin binding LIM protein family member 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1354406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11829624 ABLIM3 actin binding LIM protein family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11829624 ABLIM3 actin binding LIM protein family member 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354406 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11829685 MMP27 matrix metallopeptidase 27 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1315373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 11829685 MMP27 matrix metallopeptidase 27 gene DOID:1059 intellectual disability ISO RGD:1315373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11829685 MMP27 matrix metallopeptidase 27 gene DOID:12704 ataxia telangiectasia ISO RGD:1315373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11829685 MMP27 matrix metallopeptidase 27 gene DOID:630 genetic disease ISO RGD:1315373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829703 ACAD10 acyl-CoA dehydrogenase family member 10 gene DOID:630 genetic disease ISO RGD:1346668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829737 CDH4 cadherin 4 gene DOID:630 genetic disease ISO RGD:1343938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829737 CDH4 cadherin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 11829737 CDH4 cadherin 4 gene DOID:9007097 Microcephaly with Simplified Gyral Pattern ISO RGD:1343938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Simplified gyral pattern PMID:29706646 11829756 GUCA1A guanylate cyclase activator 1A gene DOID:0050439 Usher syndrome ISO RGD:30301436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:11146732|PMID:28492532|PMID:30718709 11829756 GUCA1A guanylate cyclase activator 1A gene DOID:0050444 infantile Refsum disease ISO RGD:30301436 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11829756 GUCA1A guanylate cyclase activator 1A gene DOID:0050572 cone-rod dystrophy ISO RGD:30301436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:25741868|PMID:28492532 11829756 GUCA1A guanylate cyclase activator 1A gene DOID:0050795 cone dystrophy ISO RGD:30301436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy | ClinVar Annotator: match by term: RETINAL CONE DYSTROPHY PMID:15505030|PMID:25741868|PMID:28492532 11829756 GUCA1A guanylate cyclase activator 1A gene DOID:0080314 cone-rod dystrophy 14 ISO RGD:30301436 D RGD:7240710 20200708 OMIM 11829756 GUCA1A guanylate cyclase activator 1A gene DOID:0080314 cone-rod dystrophy 14 ISO RGD:30301436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy 3 PMID:11146732|PMID:11484154|PMID:15505030|PMID:15735604|PMID:15790869|PMID:15953638|PMID:18706439|PMID:19459154|PMID:23472098|PMID:24024198|PMID:24352742|PMID:24875811|PMID:25741868|PMID:26358777|PMID:26766544|PMID:28025326|PMID:28041643|PMID:28442884|PMID:28492532|PMID:28559085|PMID:29555955|PMID:30184081|PMID:30622141|PMID:30718709|PMID:31728034|PMID:31882816|PMID:31979372|PMID:32025184|PMID:33546218|PMID:9425045|PMID:9425234|PMID:9651312|PMID:9702199 11829756 GUCA1A guanylate cyclase activator 1A gene DOID:10584 retinitis pigmentosa ISO RGD:30301436 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15505030|PMID:15953638|PMID:25741868|PMID:28041643|PMID:28492532|PMID:32025184|PMID:9425234|PMID:9651312|PMID:9702199 11829756 GUCA1A guanylate cyclase activator 1A gene DOID:4448 macular degeneration ISO RGD:30301436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:11146732|PMID:15953638|PMID:28041643|PMID:28492532|PMID:30718709|PMID:9425234|PMID:9651312|PMID:9702199 11829756 GUCA1A guanylate cyclase activator 1A gene DOID:630 genetic disease ISO RGD:30301436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11829756 GUCA1A guanylate cyclase activator 1A gene DOID:8501 fundus dystrophy ISO RGD:30301436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15735604|PMID:15790869|PMID:15953638|PMID:23472098|PMID:24352742|PMID:24875811|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29555955|PMID:9425234|PMID:9651312|PMID:9702199 11829756 GUCA1A guanylate cyclase activator 1A gene DOID:905 Zellweger syndrome ISO RGD:30301436 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11829765 R3HCC1 R3H domain and coiled-coil containing 1 gene DOID:630 genetic disease ISO RGD:1603166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829765 R3HCC1 R3H domain and coiled-coil containing 1 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1603166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 11829781 ZNF32 zinc finger protein 32 gene DOID:630 genetic disease ISO RGD:1350572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829808 GPR156 G protein-coupled receptor 156 gene DOID:630 genetic disease ISO RGD:736790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829830 LTV1 LTV1 ribosome biogenesis factor gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1322627 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:28492532 11829830 LTV1 LTV1 ribosome biogenesis factor gene DOID:630 genetic disease ISO RGD:1322627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829830 LTV1 LTV1 ribosome biogenesis factor gene DOID:9001883 Inflammatory Poikiloderma with Hair Abnormalities and Acral Keratoses ISO RGD:1322627 D RGD:7240710 20230201 OMIM 11829830 LTV1 LTV1 ribosome biogenesis factor gene DOID:9001883 Inflammatory Poikiloderma with Hair Abnormalities and Acral Keratoses ISO RGD:1322627 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inflammatory poikiloderma with hair abnormalities and acral keratoses PMID:34999892 11829845 CARD9 caspase recruitment domain family member 9 gene DOID:0050589 inflammatory bowel disease ISO RGD:732385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983784 11829845 CARD9 caspase recruitment domain family member 9 gene DOID:0050777 Joubert syndrome ISO RGD:732385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11829845 CARD9 caspase recruitment domain family member 9 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:732385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11829845 CARD9 caspase recruitment domain family member 9 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:732385 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11829845 CARD9 caspase recruitment domain family member 9 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:732385 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11829845 CARD9 caspase recruitment domain family member 9 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:732385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11829845 CARD9 caspase recruitment domain family member 9 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:732385 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11829845 CARD9 caspase recruitment domain family member 9 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:732385 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11829845 CARD9 caspase recruitment domain family member 9 gene DOID:0081097 Rafiq syndrome ISO RGD:732385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11829845 CARD9 caspase recruitment domain family member 9 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:732385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 11829845 CARD9 caspase recruitment domain family member 9 gene DOID:2986 IgA glomerulonephritis ISO RGD:732385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25305756 11829845 CARD9 caspase recruitment domain family member 9 gene DOID:3652 Leigh disease ISO RGD:732385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11829845 CARD9 caspase recruitment domain family member 9 gene DOID:612 primary immunodeficiency disease ISO RGD:732385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11829845 CARD9 caspase recruitment domain family member 9 gene DOID:630 genetic disease ISO RGD:732385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11829845 CARD9 caspase recruitment domain family member 9 gene DOID:7147 ankylosing spondylitis ISO RGD:732385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743469 11829845 CARD9 caspase recruitment domain family member 9 gene DOID:8577 ulcerative colitis ISO RGD:732385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 11829845 CARD9 caspase recruitment domain family member 9 gene DOID:9005249 Immunodeficiency 103 ISO RGD:732385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS PMID:16199547|PMID:17576681|PMID:19864672|PMID:21983784|PMID:22730530|PMID:23335372|PMID:24033266|PMID:24068945|PMID:24131138|PMID:24231284|PMID:24704721|PMID:25702837|PMID:25731871|PMID:25741868|PMID:25933095|PMID:26038974|PMID:26521038|PMID:26679537|PMID:26961233|PMID:27490946|PMID:27777981|PMID:28252032|PMID:28492532|PMID:28842327|PMID:29080677|PMID:29307770|PMID:29890237|PMID:30136218|PMID:30429846|PMID:30537277|PMID:30809743|PMID:30837984|PMID:31102464|PMID:31414217|PMID:31469433|PMID:32888943|PMID:33414972|PMID:33558980|PMID:33872781|PMID:34234782|PMID:35628702|PMID:9536098|PMID:9835960 11829845 CARD9 caspase recruitment domain family member 9 gene DOID:9005249 Immunodeficiency 103 susceptibility ISO RGD:732385 D RGD:7240710 20220629 OMIM 11829845 CARD9 caspase recruitment domain family member 9 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:732385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 11829865 RPAIN RPA interacting protein gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1604268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 11829865 RPAIN RPA interacting protein gene DOID:630 genetic disease ISO RGD:1604268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829887 ESCO1 establishment of sister chromatid cohesion N-acetyltransferase 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1353486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 11829887 ESCO1 establishment of sister chromatid cohesion N-acetyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:1353486 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11829887 ESCO1 establishment of sister chromatid cohesion N-acetyltransferase 1 gene DOID:630 genetic disease ISO RGD:1353486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829903 SNRNP35 small nuclear ribonucleoprotein U11/U12 subunit 35 gene DOID:630 genetic disease ISO RGD:1602490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829915 SGCB sarcoglycan beta gene DOID:0050700 cardiomyopathy ISO RGD:1312050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21037199 11829915 SGCB sarcoglycan beta gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1312050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:10993494|PMID:11369190|PMID:12746421|PMID:15032976|PMID:15938573|PMID:17994539|PMID:18285821|PMID:19770540|PMID:22095924|PMID:25741868|PMID:25862795|PMID:26206375|PMID:26404900|PMID:26467025|PMID:28492532|PMID:28889091|PMID:29797799|PMID:30838351|PMID:7581449|PMID:8968749|PMID:9032047|PMID:9565988|PMID:9631401 11829915 SGCB sarcoglycan beta gene DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E ISO RGD:1312050 D RGD:7240710 20180130 OMIM 11829915 SGCB sarcoglycan beta gene DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E ISO RGD:1312050 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2E | ClinVar Annotator: match by term: Beta-sarcoglycan limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Beta-sarcoglycanopathy | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4 PMID:10660328|PMID:10662809|PMID:10874299|PMID:10942431|PMID:10993494|PMID:11166169|PMID:11369190|PMID:12566530|PMID:12746421|PMID:12868499|PMID:15032976|PMID:15938573|PMID:15938574|PMID:16199547|PMID:16524571|PMID:17576681|PMID:17994539|PMID:18285821|PMID:18996010|PMID:19763152|PMID:19770540|PMID:20071171|PMID:20307669|PMID:21480868|PMID:22095924|PMID:22406018|PMID:23349452|PMID:25135358|PMID:25337728|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25862795|PMID:26206375|PMID:26404900|PMID:26467025|PMID:26990548|PMID:27108072|PMID:27234031|PMID:27276190|PMID:27671536|PMID:28403181|PMID:28492532|PMID:28687063|PMID:28883879|PMID:28889091|PMID:29797799|PMID:29970176|PMID:30564623|PMID:30764848|PMID:30838351|PMID:30919934|PMID:31268554|PMID:31980526|PMID:32528171|PMID:32875335|PMID:33250842|PMID:34008892|PMID:7581448|PMID:7581449|PMID:8968749|PMID:9032047|PMID:9536098|PMID:9565988|PMID:9631401 11829915 SGCB sarcoglycan beta gene DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E treatment ISO RGD:1312050 D RGD:9068941 20200609 RGD PMID:28284983|REF_RGD_ID:13605613 11829915 SGCB sarcoglycan beta gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1312050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 11829915 SGCB sarcoglycan beta gene DOID:12930 dilated cardiomyopathy ISO RGD:1312050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12566530|PMID:15938573|PMID:25135358|PMID:25741868|PMID:25862795|PMID:28492532 11829915 SGCB sarcoglycan beta gene DOID:630 genetic disease ISO RGD:1312050 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10942431|PMID:10993494|PMID:11369190|PMID:17994539|PMID:18285821|PMID:18996010|PMID:20071171|PMID:22095924|PMID:23349452|PMID:25135358|PMID:25741868|PMID:25862795|PMID:26206375|PMID:26404900|PMID:26467025|PMID:26990548|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31980526|PMID:32528171|PMID:8968749|PMID:9032047|PMID:9565988|PMID:9631401 11829915 SGCB sarcoglycan beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11829915 SGCB sarcoglycan beta gene DOID:9884 muscular dystrophy ISO RGD:1312050 D RGD:9068941 20200609 RGD autosomal recessive limb-girdle muscular dystrophies (LGMD type 2C-F), OMIM:600900 PMID:9631401|REF_RGD_ID:1599343 11829924 TRMT61B tRNA methyltransferase 61B gene DOID:630 genetic disease ISO RGD:1602887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829945 IGIP IgA inducing protein gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1604414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11829945 IGIP IgA inducing protein gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604414 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11829945 IGIP IgA inducing protein gene DOID:630 genetic disease ISO RGD:1604414 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829945 IGIP IgA inducing protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11829945 IGIP IgA inducing protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604414 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11829950 HDHD2 haloacid dehalogenase like hydrolase domain containing 2 gene DOID:0060356 Vici syndrome ISO RGD:1348609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 11829950 HDHD2 haloacid dehalogenase like hydrolase domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1348609 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11829950 HDHD2 haloacid dehalogenase like hydrolase domain containing 2 gene DOID:630 genetic disease ISO RGD:1348609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829950 HDHD2 haloacid dehalogenase like hydrolase domain containing 2 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1348609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 11829950 HDHD2 haloacid dehalogenase like hydrolase domain containing 2 gene DOID:9004657 Weight Gain ISO RGD:1348609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11829974 CCDC33 coiled-coil domain containing 33 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11829974 CCDC33 coiled-coil domain containing 33 gene DOID:2717 Bloom syndrome ISO RGD:1602211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11829974 CCDC33 coiled-coil domain containing 33 gene DOID:5419 schizophrenia ISO RGD:1602211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11829974 CCDC33 coiled-coil domain containing 33 gene DOID:630 genetic disease ISO RGD:1602211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11829974 CCDC33 coiled-coil domain containing 33 gene DOID:9256 colorectal cancer ISO RGD:1602211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11829993 DIPK2B divergent protein kinase domain 2B gene DOID:0060041 autism spectrum disorder ISO RGD:1343794 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21264219|PMID:21283809 11829993 DIPK2B divergent protein kinase domain 2B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11829993 DIPK2B divergent protein kinase domain 2B gene DOID:0080006 bone development disease ISO RGD:1343794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 11829993 DIPK2B divergent protein kinase domain 2B gene DOID:12849 autistic disorder ISO RGD:1343794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11829993 DIPK2B divergent protein kinase domain 2B gene DOID:684 hepatocellular carcinoma ISO RGD:1343794 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11829993 DIPK2B divergent protein kinase domain 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11829993 DIPK2B divergent protein kinase domain 2B gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1343794 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21264219 11829993 DIPK2B divergent protein kinase domain 2B gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1343794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25972376 11830005 JMJD8 jumonji domain containing 8 gene DOID:0080029 autosomal recessive spinocerebellar ataxia 16 ISO RGD:1601801 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 PMID:24113144|PMID:24719489|PMID:24742043|PMID:25741868|PMID:28492532|PMID:31571321 11830005 JMJD8 jumonji domain containing 8 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1601801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 11830005 JMJD8 jumonji domain containing 8 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1601801 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11830005 JMJD8 jumonji domain containing 8 gene DOID:0111746 cerebellar ataxia type 48 ISO RGD:1601801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 48 PMID:24719489|PMID:25741868|PMID:28492532|PMID:30381368|PMID:31126790|PMID:31571321|PMID:32488064|PMID:34070858 11830005 JMJD8 jumonji domain containing 8 gene DOID:1826 epilepsy ISO RGD:1601801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11830005 JMJD8 jumonji domain containing 8 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1601801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11830005 JMJD8 jumonji domain containing 8 gene DOID:630 genetic disease ISO RGD:1601801 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11830017 IPO7 importin 7 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1321989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11830017 IPO7 importin 7 gene DOID:630 genetic disease ISO RGD:1321989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11830051 USP1 ubiquitin specific peptidase 1 gene DOID:1059 intellectual disability ISO RGD:1315093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11830051 USP1 ubiquitin specific peptidase 1 gene DOID:13636 Fanconi anemia ISO RGD:1315094 D RGD:9068941 20220825 MouseDO 11830051 USP1 ubiquitin specific peptidase 1 gene DOID:630 genetic disease ISO RGD:1315093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11830067 LOC100982169 histone H2A type 1 gene DOID:630 genetic disease ISO RGD:1344301 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11830072 SPRY1 sprouty RTK signaling antagonist 1 gene DOID:630 genetic disease ISO RGD:1319561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11983899 11830072 SPRY1 sprouty RTK signaling antagonist 1 gene DOID:9002488 Peritoneal Fibrosis ISO RGD:1309293 D RGD:9068941 20210129 RGD mRNA, protein:decreased expression:peritoneal fluid,tissue PMID:30515805|REF_RGD_ID:40925948 11830072 SPRY1 sprouty RTK signaling antagonist 1 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1319561 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 11830072 SPRY1 sprouty RTK signaling antagonist 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11830084 ADAM19 ADAM metallopeptidase domain 19 gene DOID:1682 congenital heart disease ISO RGD:735924 D RGD:9068941 20200609 RGD PMID:14673146|REF_RGD_ID:1559267 11830084 ADAM19 ADAM metallopeptidase domain 19 gene DOID:1749 squamous cell carcinoma ISO RGD:735923 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 11830084 ADAM19 ADAM metallopeptidase domain 19 gene DOID:3910 lung adenocarcinoma ISO RGD:735923 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 11830084 ADAM19 ADAM metallopeptidase domain 19 gene DOID:5199 ureteral obstruction ISO RGD:735924 D RGD:9068941 20200609 RGD PMID:24103556|REF_RGD_ID:13703030 11830084 ADAM19 ADAM metallopeptidase domain 19 gene DOID:630 genetic disease ISO RGD:735923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11830113 ACTR2 actin related protein 2 gene DOID:0080199 colorectal carcinoma severity ISO RGD:1321952 D RGD:9068941 20200609 RGD protein:increased expression:colonic mucosa (human) PMID:14990971|REF_RGD_ID:11570560 11830113 ACTR2 actin related protein 2 gene DOID:630 genetic disease ISO RGD:1321952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11830113 ACTR2 actin related protein 2 gene DOID:9000998 Brain Injuries ISO RGD:1310826 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:hippocampus (rat) PMID:22120305|REF_RGD_ID:11530046 11830113 ACTR2 actin related protein 2 gene DOID:9006832 Puromycin Aminonucleoside Nephrosis ISO RGD:1310826 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cortex of kidney (rat) PMID:19617259|REF_RGD_ID:11530057 11830130 ZSCAN16 zinc finger and SCAN domain containing 16 gene DOID:11372 megacolon ISO RGD:1345084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11830130 ZSCAN16 zinc finger and SCAN domain containing 16 gene DOID:630 genetic disease ISO RGD:1345084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11830146 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:0060903 thrombosis ISO RGD:68653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24213632 11830146 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:68653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11830146 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:1070 primary open angle glaucoma ISO RGD:68654 D RGD:9068941 20220825 MouseDO OMIM:137760 11830146 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:10763 hypertension ISO RGD:68653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18339647 11830146 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:3393 coronary artery disease ISO RGD:68653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22751097 11830146 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:5844 myocardial infarction ISO RGD:68653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1 PMID:24213632 11830146 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:630 genetic disease ISO RGD:68653 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11830146 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:68653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 11830146 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:68653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11830146 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:9005526 Pulmonary Edema of Mountaineers ISO RGD:68653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25373139 11830146 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:9005580 Moyamoya Disease 1 ISO RGD:68653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MYMY1 PMID:26777256 11830146 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:9007087 Moyamoya Disease 6 with Achalasia ISO RGD:68653 D RGD:7240710 20180130 OMIM 11830146 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:9007087 Moyamoya Disease 6 with Achalasia ISO RGD:68653 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Moyamoya disease 6 with achalasia PMID:24581742|PMID:25741868|PMID:26777256|PMID:28492532 11830191 MIGA1 mitoguardin 1 gene DOID:630 genetic disease ISO RGD:1605523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11830223 MYO1F myosin IF gene DOID:0080490 mucolipidosis type IV ISO RGD:1320254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 11830223 MYO1F myosin IF gene DOID:10003 sensorineural hearing loss ISO RGD:1320254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment 11830223 MYO1F myosin IF gene DOID:12849 autistic disorder ISO RGD:1320254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11830223 MYO1F myosin IF gene DOID:630 genetic disease ISO RGD:1320254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11830223 MYO1F myosin IF gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11830253 TM4SF5 transmembrane 4 L six family member 5 gene DOID:630 genetic disease ISO RGD:1318639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11830287 PCBP1 poly(rC) binding protein 1 gene DOID:0080600 COVID-19 ISO RGD:1353218 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 11830287 PCBP1 poly(rC) binding protein 1 gene DOID:0080600 COVID-19 ISO RGD:1561319 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD8+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 11830287 PCBP1 poly(rC) binding protein 1 gene DOID:630 genetic disease ISO RGD:1353218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11830287 PCBP1 poly(rC) binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11830287 PCBP1 poly(rC) binding protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1353218 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35639300 11830292 MBD3L1 methyl-CpG binding domain protein 3 like 1 gene DOID:12849 autistic disorder ISO RGD:1317930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11830292 MBD3L1 methyl-CpG binding domain protein 3 like 1 gene DOID:630 genetic disease ISO RGD:1317930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11830302 MLIP muscular LMNA interacting protein gene DOID:630 genetic disease ISO RGD:1315218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11830302 MLIP muscular LMNA interacting protein gene DOID:9001244 Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis ISO RGD:1315218 D RGD:7240710 20221214 OMIM 11830302 MLIP muscular LMNA interacting protein gene DOID:9001244 Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis ISO RGD:1315218 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis PMID:34581780|PMID:34935254|PMID:35672413|PMID:35915960 11830361 TAOK1 TAO kinase 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1351422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 11830361 TAOK1 TAO kinase 1 gene DOID:630 genetic disease ISO RGD:1351422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:31230721|PMID:33565190|PMID:7768349 11830361 TAOK1 TAO kinase 1 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1351422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 11830361 TAOK1 TAO kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351422 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:31230721 11830361 TAOK1 TAO kinase 1 gene DOID:9005813 DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES ISO RGD:1351422 D RGD:7240710 20211215 OMIM 11830361 TAOK1 TAO kinase 1 gene DOID:9005813 DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES ISO RGD:1351422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with or without intellectual impairment or behavioral abnormalities PMID:25741868|PMID:31230721|PMID:33565190|PMID:7768349 11830361 TAOK1 TAO kinase 1 gene DOID:9007817 Macroglossia ISO RGD:1351422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macroglossia PMID:25741868 11830361 TAOK1 TAO kinase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1351422 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:33565190 11830361 TAOK1 TAO kinase 1 gene DOID:9008363 GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT ISO RGD:1351422 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay with or without impaired intellectual development PMID:25741868 11830407 C19H19orf73 chromosome 19 C19orf73 homolog gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1602703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11830407 C19H19orf73 chromosome 19 C19orf73 homolog gene DOID:0111076 progressive familial heart block type IB ISO RGD:1602703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:28492532 11830412 ZNF226 zinc finger protein 226 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1343710 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 11830412 ZNF226 zinc finger protein 226 gene DOID:5419 schizophrenia ISO RGD:1343710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11830412 ZNF226 zinc finger protein 226 gene DOID:630 genetic disease ISO RGD:1343710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11830434 SMIM1 small integral membrane protein 1 (Vel blood group) gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:6767479 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11830434 SMIM1 small integral membrane protein 1 (Vel blood group) gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:6767479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11830434 SMIM1 small integral membrane protein 1 (Vel blood group) gene DOID:0110994 Joubert syndrome 25 ISO RGD:6767479 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11830434 SMIM1 small integral membrane protein 1 (Vel blood group) gene DOID:0111934 immunodeficiency 38 ISO RGD:6767479 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11830434 SMIM1 small integral membrane protein 1 (Vel blood group) gene DOID:0111935 immunodeficiency 16 ISO RGD:6767479 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11830434 SMIM1 small integral membrane protein 1 (Vel blood group) gene DOID:630 genetic disease ISO RGD:6767479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11830434 SMIM1 small integral membrane protein 1 (Vel blood group) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:6767479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11830434 SMIM1 small integral membrane protein 1 (Vel blood group) gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:6767479 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11830446 UBQLN2 ubiquilin 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1350173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant PMID:19377476|PMID:22560112|PMID:23138764|PMID:25741868|PMID:26467025|PMID:28492532 11830446 UBQLN2 ubiquilin 2 gene DOID:0060206 amyotrophic lateral sclerosis type 15 ISO RGD:1350173 D RGD:7240710 20180130 OMIM 11830446 UBQLN2 ubiquilin 2 gene DOID:0060206 amyotrophic lateral sclerosis type 15 ISO RGD:1350173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 15 PMID:19377476|PMID:21857683|PMID:22560112|PMID:22892309|PMID:23138764|PMID:23312802|PMID:24215460|PMID:24771548|PMID:25333069|PMID:25398946|PMID:25616961|PMID:25741868|PMID:26075709|PMID:26467025|PMID:28492532|PMID:28716533|PMID:30348461|PMID:34273246 11830446 UBQLN2 ubiquilin 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11830446 UBQLN2 ubiquilin 2 gene DOID:12849 autistic disorder ISO RGD:1350173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11830446 UBQLN2 ubiquilin 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1350173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:21857683|PMID:25333069|PMID:25616961|PMID:25741868|PMID:26075709|PMID:28492532 11830446 UBQLN2 ubiquilin 2 gene DOID:630 genetic disease ISO RGD:1350173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11830446 UBQLN2 ubiquilin 2 gene DOID:8725 vascular dementia ISO RGD:1350173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 11830451 DCSTAMP dendrocyte expressed seven transmembrane protein gene DOID:0111590 Cohen syndrome ISO RGD:1321334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 11830451 DCSTAMP dendrocyte expressed seven transmembrane protein gene DOID:289 endometriosis ISO RGD:1321334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11830451 DCSTAMP dendrocyte expressed seven transmembrane protein gene DOID:5408 Paget's disease of bone ISO RGD:1321334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21623375 11830451 DCSTAMP dendrocyte expressed seven transmembrane protein gene DOID:630 genetic disease ISO RGD:1321334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11830451 DCSTAMP dendrocyte expressed seven transmembrane protein gene DOID:670 amphetamine abuse ISO RGD:1321334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11830461 DOCK9 dedicator of cytokinesis 9 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1348065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 11830461 DOCK9 dedicator of cytokinesis 9 gene DOID:4621 holoprosencephaly ISO RGD:1348065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 11830461 DOCK9 dedicator of cytokinesis 9 gene DOID:630 genetic disease ISO RGD:1348065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11830461 DOCK9 dedicator of cytokinesis 9 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1348065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11830552 BROX BRO1 domain and CAAX motif containing gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1606705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 11830552 BROX BRO1 domain and CAAX motif containing gene DOID:1540 parathyroid carcinoma ISO RGD:1606705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11830552 BROX BRO1 domain and CAAX motif containing gene DOID:630 genetic disease ISO RGD:1606705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11830552 BROX BRO1 domain and CAAX motif containing gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11830590 HIGD2B HIG1 hypoxia inducible domain family member 2B gene DOID:5419 schizophrenia ISO RGD:1603920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11830595 RORB RAR related orphan receptor B gene DOID:0111316 idiopathic generalized epilepsy 15 ISO RGD:1315588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 15 PMID:16199547|PMID:25356972|PMID:25741868|PMID:27352968|PMID:28492532 11830595 RORB RAR related orphan receptor B gene DOID:0111316 idiopathic generalized epilepsy 15 susceptibility ISO RGD:1315588 D RGD:7240710 20190904 OMIM 11830595 RORB RAR related orphan receptor B gene DOID:1826 epilepsy ISO RGD:1315588 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11830595 RORB RAR related orphan receptor B gene DOID:289 endometriosis ISO RGD:1315588 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11830595 RORB RAR related orphan receptor B gene DOID:630 genetic disease ISO RGD:1315588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356972|PMID:27352968|PMID:28492532 11830595 RORB RAR related orphan receptor B gene DOID:9009060 Childhood Absence Epilepsy 1 ISO RGD:1315588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 PMID:25950944 11830624 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:0080074 neural tube defect ISO RGD:734121 D RGD:9068941 20200609 RGD PMID:11823447|REF_RGD_ID:734781 11830624 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:734120 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 11830624 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:0110113 atrial heart septal defect 8 ISO RGD:734120 D RGD:7240710 20180130 OMIM 11830624 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:0110113 atrial heart septal defect 8 ISO RGD:734120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect 8 PMID:16287139|PMID:25741868 11830624 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:14566 disease of cellular proliferation ISO RGD:734120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21660965 11830624 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:1657 ventricular septal defect ISO RGD:734120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11830624 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:1681 heart septal defect ISO RGD:734120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16287139 11830624 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:1682 congenital heart disease ISO RGD:734121 D RGD:9068941 20200609 RGD PMID:11823447|REF_RGD_ID:734781 11830624 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:2316 brain ischemia ISO RGD:620112 D RGD:9068941 20200609 RGD PMID:16434029|REF_RGD_ID:1581188 11830624 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:3347 osteosarcoma ISO RGD:620112 D RGD:9068941 20200609 RGD DNA:deletion (rat) PMID:19825367|REF_RGD_ID:5147850 11830624 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:630 genetic disease ISO RGD:734120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11830624 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:6419 tetralogy of Fallot ISO RGD:734121 D RGD:9068941 20220825 MouseDO OMIM:187500 11830624 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:767 muscular atrophy ISO RGD:734120 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19032942 11830624 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:9005639 Mandibular Fractures ISO RGD:620112 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone PMID:19607804|REF_RGD_ID:5147852 11830624 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:9007054 Ventricular Septal Defect 2 ISO RGD:734120 D RGD:7240710 20180130 OMIM 11830624 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:9007054 Ventricular Septal Defect 2 ISO RGD:734120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular septal defect 2 PMID:16287139 11830633 GABPB2 GA binding protein transcription factor subunit beta 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1602655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11830633 GABPB2 GA binding protein transcription factor subunit beta 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1602655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11830633 GABPB2 GA binding protein transcription factor subunit beta 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1602655 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11830633 GABPB2 GA binding protein transcription factor subunit beta 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1602655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11830633 GABPB2 GA binding protein transcription factor subunit beta 2 gene DOID:5812 MHC class II deficiency ISO RGD:1602655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11830633 GABPB2 GA binding protein transcription factor subunit beta 2 gene DOID:630 genetic disease ISO RGD:1602655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11830633 GABPB2 GA binding protein transcription factor subunit beta 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11830651 TNKS1BP1 tankyrase 1 binding protein 1 gene DOID:1059 intellectual disability ISO RGD:1323786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11830651 TNKS1BP1 tankyrase 1 binding protein 1 gene DOID:2661 myoepithelioma ISO RGD:1323786 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11830651 TNKS1BP1 tankyrase 1 binding protein 1 gene DOID:630 genetic disease ISO RGD:1323786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11830667 ERFE erythroferrone gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1606147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11830667 ERFE erythroferrone gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1606147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11830667 ERFE erythroferrone gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1606147 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11830667 ERFE erythroferrone gene DOID:1059 intellectual disability ISO RGD:1606147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11830667 ERFE erythroferrone gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1606147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11830688 FAM135B family with sequence similarity 135 member B gene DOID:630 genetic disease ISO RGD:1606292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11830711 ATP6AP2 ATPase H+ transporting accessory protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11830711 ATP6AP2 ATPase H+ transporting accessory protein 2 gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1346001 D RGD:7240710 20180130 OMIM 11830711 ATP6AP2 ATPase H+ transporting accessory protein 2 gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1346001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:11782983|PMID:15746149|PMID:17576681|PMID:23901204|PMID:25741868|PMID:26235985|PMID:26467025|PMID:26467484|PMID:28492532|PMID:30985297|PMID:9536098 11830711 ATP6AP2 ATPase H+ transporting accessory protein 2 gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1346001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 11830711 ATP6AP2 ATPase H+ transporting accessory protein 2 gene DOID:0111809 syndromic microphthalmia 2 ISO RGD:1346001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculofaciocardiodental syndrome PMID:28492532 11830711 ATP6AP2 ATPase H+ transporting accessory protein 2 gene DOID:0112105 X-linked parkinsonism-spasticity syndrome ISO RGD:1346001 D RGD:7240710 20180130 OMIM 11830711 ATP6AP2 ATPase H+ transporting accessory protein 2 gene DOID:0112105 X-linked parkinsonism-spasticity syndrome ISO RGD:1346001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked parkinsonism-spasticity syndrome PMID:20629132|PMID:23595882 11830711 ATP6AP2 ATPase H+ transporting accessory protein 2 gene DOID:10763 hypertension ISO RGD:1561269 D RGD:9068941 20200609 RGD PMID:21321306|REF_RGD_ID:5132599 11830711 ATP6AP2 ATPase H+ transporting accessory protein 2 gene DOID:12849 autistic disorder ISO RGD:1346001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11830711 ATP6AP2 ATPase H+ transporting accessory protein 2 gene DOID:630 genetic disease ISO RGD:1346001 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467484|PMID:28492532 11830711 ATP6AP2 ATPase H+ transporting accessory protein 2 gene DOID:9000744 Congenital Disorder of Glycosylation Type IIr ISO RGD:1346001 D RGD:7240710 20200429 OMIM 11830711 ATP6AP2 ATPase H+ transporting accessory protein 2 gene DOID:9000744 Congenital Disorder of Glycosylation Type IIr ISO RGD:1346001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIr PMID:25741868|PMID:29127204 11830711 ATP6AP2 ATPase H+ transporting accessory protein 2 gene DOID:9000784 Fibrosis ISO RGD:1346001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21795644 11830711 ATP6AP2 ATPase H+ transporting accessory protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11830711 ATP6AP2 ATPase H+ transporting accessory protein 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1346001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 11830711 ATP6AP2 ATPase H+ transporting accessory protein 2 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1346001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 11830724 MDFI MyoD family inhibitor gene DOID:0050444 infantile Refsum disease ISO RGD:1353332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11830724 MDFI MyoD family inhibitor gene DOID:630 genetic disease ISO RGD:1353332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11830724 MDFI MyoD family inhibitor gene DOID:905 Zellweger syndrome ISO RGD:1353332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11830759 UGDH UDP-glucose 6-dehydrogenase gene DOID:0112219 developmental and epileptic encephalopathy 84 ISO RGD:734073 D RGD:7240710 20200318 OMIM 11830759 UGDH UDP-glucose 6-dehydrogenase gene DOID:0112219 developmental and epileptic encephalopathy 84 ISO RGD:734073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 84 PMID:25741868|PMID:32001716|PMID:32860008 11830759 UGDH UDP-glucose 6-dehydrogenase gene DOID:630 genetic disease ISO RGD:734073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11830759 UGDH UDP-glucose 6-dehydrogenase gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:734073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency PMID:28492532 11830759 UGDH UDP-glucose 6-dehydrogenase gene DOID:9001793 Generalized Epilepsy ISO RGD:734073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:32001716|PMID:32860008 11830759 UGDH UDP-glucose 6-dehydrogenase gene DOID:9007188 Liver Neoplasms ISO RGD:734073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17114358 11830776 STX1A syntaxin 1A gene DOID:0060041 autism spectrum disorder ISO RGD:69485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 11830776 STX1A syntaxin 1A gene DOID:10487 Hirschsprung's disease ISO RGD:69485 D RGD:9068941 20200609 RGD PMID:11345516|REF_RGD_ID:1581432 11830776 STX1A syntaxin 1A gene DOID:10923 sickle cell anemia ISO RGD:69485 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 11830776 STX1A syntaxin 1A gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:69485 D RGD:9068941 20200609 RGD PMID:10842016|REF_RGD_ID:1581434 11830776 STX1A syntaxin 1A gene DOID:12849 autistic disorder ISO RGD:69485 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:25741868|PMID:30208311 11830776 STX1A syntaxin 1A gene DOID:150 disease of mental health ISO RGD:69486 D RGD:9068941 20220825 MouseDO 11830776 STX1A syntaxin 1A gene DOID:1826 epilepsy ISO RGD:69485 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868 11830776 STX1A syntaxin 1A gene DOID:1928 Williams-Beuren syndrome ISO RGD:69485 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 11830776 STX1A syntaxin 1A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11830776 STX1A syntaxin 1A gene DOID:5419 schizophrenia ISO RGD:69485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11830776 STX1A syntaxin 1A gene DOID:630 genetic disease ISO RGD:69485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11830776 STX1A syntaxin 1A gene DOID:8445 intestinal volvulus ISO RGD:69485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11830776 STX1A syntaxin 1A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11830776 STX1A syntaxin 1A gene DOID:9008419 Volvulus Of Midgut ISO RGD:69485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11830799 ADAM33 ADAM metallopeptidase domain 33 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1313212 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11830799 ADAM33 ADAM metallopeptidase domain 33 gene DOID:2841 asthma ISO RGD:1313212 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:19940503|REF_RGD_ID:4145359 11830799 ADAM33 ADAM metallopeptidase domain 33 gene DOID:2841 asthma ISO RGD:1313213 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19635592|REF_RGD_ID:4145360 11830799 ADAM33 ADAM metallopeptidase domain 33 gene DOID:2841 asthma disease_progression ISO RGD:1313212 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchus PMID:17339047|REF_RGD_ID:4145380 11830799 ADAM33 ADAM metallopeptidase domain 33 gene DOID:2841 asthma no_association ISO RGD:1313212 D RGD:9068941 20200609 RGD DNA:SNPs:introns,exon:7575G>A, 11188A>T, 12433T>C (human) PMID:16893396|REF_RGD_ID:4145382 11830799 ADAM33 ADAM metallopeptidase domain 33 gene DOID:2841 asthma susceptibility ISO RGD:1313212 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:18778489|REF_RGD_ID:4145378 11830799 ADAM33 ADAM metallopeptidase domain 33 gene DOID:2841 asthma susceptibility ISO RGD:1313212 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M764T (human) PMID:17961406|REF_RGD_ID:4145379 11830799 ADAM33 ADAM metallopeptidase domain 33 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1313212 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple (human) PMID:19284602|REF_RGD_ID:4145361 11830799 ADAM33 ADAM metallopeptidase domain 33 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:1313212 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:20156753|REF_RGD_ID:4145358 11830799 ADAM33 ADAM metallopeptidase domain 33 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1313212 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple (human) PMID:20003279|REF_RGD_ID:4145357 11830799 ADAM33 ADAM metallopeptidase domain 33 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1313212 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11830799 ADAM33 ADAM metallopeptidase domain 33 gene DOID:4483 rhinitis susceptibility ISO RGD:1313212 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:15298558|PMID:18778489|REF_RGD_ID:4145378|REF_RGD_ID:4145383 11830799 ADAM33 ADAM metallopeptidase domain 33 gene DOID:630 genetic disease ISO RGD:1313212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11830799 ADAM33 ADAM metallopeptidase domain 33 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1313212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17061022 11830799 ADAM33 ADAM metallopeptidase domain 33 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1313212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 11830799 ADAM33 ADAM metallopeptidase domain 33 gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:1313212 D RGD:9068941 20200609 RGD DNA:SNP: :rs2787094 c.2891G>C (human) PMID:19258923|REF_RGD_ID:4142862 11830799 ADAM33 ADAM metallopeptidase domain 33 gene DOID:9008939 Breast Neoplasms ISO RGD:1313212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30226539 11830824 CENPVL3 centromere protein V like 3 gene DOID:12849 autistic disorder ISO RGD:6482621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11830827 SBSPON somatomedin B and thrombospondin type 1 domain containing gene DOID:630 genetic disease ISO RGD:1602645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11830827 SBSPON somatomedin B and thrombospondin type 1 domain containing gene DOID:9005369 Hepatomegaly ISO RGD:1602645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 11830836 BMP7 bone morphogenetic protein 7 gene DOID:0050848 obstructive sleep apnea ISO RGD:1553810 D RGD:9068941 20220825 MouseDO OMIM:107650 11830836 BMP7 bone morphogenetic protein 7 gene DOID:0080011 bone resorption disease ISO RGD:1344234 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17513972 11830836 BMP7 bone morphogenetic protein 7 gene DOID:0080205 CAKUT ISO RGD:1344234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:27657687 11830836 BMP7 bone morphogenetic protein 7 gene DOID:0110113 atrial heart septal defect 8 ISO RGD:1344234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial septal defect 8 PMID:28492532 11830836 BMP7 bone morphogenetic protein 7 gene DOID:10283 prostate cancer ISO RGD:1344234 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:15861517|REF_RGD_ID:2289031 11830836 BMP7 bone morphogenetic protein 7 gene DOID:10283 prostate cancer susceptibility ISO RGD:1344234 D RGD:9068941 20200609 RGD DNA:amplification:prostate gland PMID:17656261|REF_RGD_ID:2289030 11830836 BMP7 bone morphogenetic protein 7 gene DOID:11400 pyelonephritis ISO RGD:620743 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:16034630|REF_RGD_ID:2289039 11830836 BMP7 bone morphogenetic protein 7 gene DOID:12556 acute kidney tubular necrosis ISO RGD:620743 D RGD:9068941 20200609 RGD associated with Kidney Reperfusion Injury;protein:increased expression:kidney PMID:16284088|REF_RGD_ID:1601494 11830836 BMP7 bone morphogenetic protein 7 gene DOID:1612 breast cancer ISO RGD:1344234 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:17004110|REF_RGD_ID:1643590 11830836 BMP7 bone morphogenetic protein 7 gene DOID:2154 nephroblastoma ISO RGD:620743 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:9808158|REF_RGD_ID:2289034 11830836 BMP7 bone morphogenetic protein 7 gene DOID:289 endometriosis ISO RGD:1344234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 11830836 BMP7 bone morphogenetic protein 7 gene DOID:3770 pulmonary fibrosis ISO RGD:1344234 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17975199 11830836 BMP7 bone morphogenetic protein 7 gene DOID:4001 ovarian carcinoma ISO RGD:1344234 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:15277215|REF_RGD_ID:2289032 11830836 BMP7 bone morphogenetic protein 7 gene DOID:4297 scimitar syndrome ISO RGD:1344234 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Total anomalous pulmonary venous return PMID:28492532 11830836 BMP7 bone morphogenetic protein 7 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1344234 D RGD:9068941 20200609 RGD PMID:17644140|REF_RGD_ID:1643589 11830836 BMP7 bone morphogenetic protein 7 gene DOID:557 kidney disease ISO RGD:620743 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:16549155|REF_RGD_ID:2289038 11830836 BMP7 bone morphogenetic protein 7 gene DOID:630 genetic disease ISO RGD:1344234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19855013 11830836 BMP7 bone morphogenetic protein 7 gene DOID:6419 tetralogy of Fallot ISO RGD:1344234 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot 11830836 BMP7 bone morphogenetic protein 7 gene DOID:8398 osteoarthritis ISO RGD:1553810 D RGD:9068941 20220825 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 11830836 BMP7 bone morphogenetic protein 7 gene DOID:9000217 Stomach Neoplasms ISO RGD:1344234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11830836 BMP7 bone morphogenetic protein 7 gene DOID:9000955 Acute Otitis Media ISO RGD:1553810 D RGD:9068941 20210611 RGD mRNA:increased expression:middle ear (mouse) PMID:21889218|REF_RGD_ID:127284853 11830836 BMP7 bone morphogenetic protein 7 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1344234 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;mRNA:increased expression:bone PMID:12539225|REF_RGD_ID:2289033 11830836 BMP7 bone morphogenetic protein 7 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1344234 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:increased expression:breast PMID:17895257|REF_RGD_ID:2289029 11830836 BMP7 bone morphogenetic protein 7 gene DOID:9001547 Tibial Fractures ISO RGD:620743 D RGD:9068941 20200609 RGD protein:increased expression:tibia PMID:16651391|REF_RGD_ID:2289037 11830836 BMP7 bone morphogenetic protein 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344234 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17127702 11830836 BMP7 bone morphogenetic protein 7 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:620743 D RGD:9068941 20230209 RGD protein:increased expression:lung, pulmonary artery (rat) PMID:31542483|REF_RGD_ID:155888480 11830836 BMP7 bone morphogenetic protein 7 gene DOID:9002165 Diabetic Nephropathies ISO RGD:620743 D RGD:9068941 20200609 RGD PMID:17437042|REF_RGD_ID:2289036 11830836 BMP7 bone morphogenetic protein 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881|PMID:19283074 11830836 BMP7 bone morphogenetic protein 7 gene DOID:9002589 Bone Fractures ISO RGD:1344234 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27394662 11830836 BMP7 bone morphogenetic protein 7 gene DOID:9002809 Congenital Heart Defects, Multiple Types, 4 ISO RGD:1344234 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 4 11830836 BMP7 bone morphogenetic protein 7 gene DOID:9003959 Ventricular Septal Defect 1 ISO RGD:1344234 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ventricular septal defect 1 11830836 BMP7 bone morphogenetic protein 7 gene DOID:9007402 Gliosis ISO RGD:620743 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:17696121|REF_RGD_ID:1643225 11830836 BMP7 bone morphogenetic protein 7 gene DOID:9008763 Femoral Fractures ISO RGD:1344234 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16234978 11830836 BMP7 bone morphogenetic protein 7 gene DOID:9008763 Femoral Fractures ISO RGD:620743 D RGD:9068941 20200609 RGD PMID:9626398|REF_RGD_ID:2289041 11830847 SLC25A44 solute carrier family 25 member 44 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1605709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11830847 SLC25A44 solute carrier family 25 member 44 gene DOID:0111940 immunodeficiency 42 ISO RGD:1605709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11830847 SLC25A44 solute carrier family 25 member 44 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11830847 SLC25A44 solute carrier family 25 member 44 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11830847 SLC25A44 solute carrier family 25 member 44 gene DOID:1540 parathyroid carcinoma ISO RGD:1605709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11830847 SLC25A44 solute carrier family 25 member 44 gene DOID:5812 MHC class II deficiency ISO RGD:1605709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11830847 SLC25A44 solute carrier family 25 member 44 gene DOID:630 genetic disease ISO RGD:1605709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11830847 SLC25A44 solute carrier family 25 member 44 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11830863 ENDOU endonuclease, poly(U) specific gene DOID:630 genetic disease ISO RGD:1604059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11830879 LOC100981066 olfactory receptor 2G3 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1343786 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11830879 LOC100981066 olfactory receptor 2G3 gene DOID:1540 parathyroid carcinoma ISO RGD:1343786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11830879 LOC100981066 olfactory receptor 2G3 gene DOID:630 genetic disease ISO RGD:1343786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11830879 LOC100981066 olfactory receptor 2G3 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1343786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome PMID:28492532 11830879 LOC100981066 olfactory receptor 2G3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11830889 PSMA2 proteasome 20S subunit alpha 2 gene DOID:114 heart disease ISO RGD:732886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 11830889 PSMA2 proteasome 20S subunit alpha 2 gene DOID:11476 osteoporosis ISO RGD:732886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 11830889 PSMA2 proteasome 20S subunit alpha 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11830901 SHISA5 shisa family member 5 gene DOID:630 genetic disease ISO RGD:1602716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11830901 SHISA5 shisa family member 5 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1602716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11830901 SHISA5 shisa family member 5 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1602716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11830921 MAD2L1BP MAD2L1 binding protein gene DOID:0050444 infantile Refsum disease ISO RGD:1319368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11830921 MAD2L1BP MAD2L1 binding protein gene DOID:630 genetic disease ISO RGD:1319368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11830921 MAD2L1BP MAD2L1 binding protein gene DOID:905 Zellweger syndrome ISO RGD:1319368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11830930 ZDHHC6 zinc finger DHHC-type palmitoyltransferase 6 gene DOID:630 genetic disease ISO RGD:1312223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11830951 PPP4R3A protein phosphatase 4 regulatory subunit 3A gene DOID:0080054 achondrogenesis type IA ISO RGD:1319189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11830968 TMEM98 transmembrane protein 98 gene DOID:630 genetic disease ISO RGD:1607062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11830968 TMEM98 transmembrane protein 98 gene DOID:9008422 Nanophthalmos 4 ISO RGD:1607062 D RGD:7240710 20180130 OMIM 11830968 TMEM98 transmembrane protein 98 gene DOID:9008422 Nanophthalmos 4 ISO RGD:1607062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nanophthalmos 4 PMID:24852644|PMID:26392740 11830980 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase gene DOID:0090039 torsion dystonia 6 ISO RGD:1606456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 11830980 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase gene DOID:0110389 retinitis pigmentosa 73 ISO RGD:1606456 D RGD:7240710 20180130 OMIM 11830980 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase gene DOID:0110389 retinitis pigmentosa 73 ISO RGD:1606456 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 73 PMID:16199547|PMID:16960811|PMID:17033958|PMID:17576681|PMID:19479962|PMID:19823584|PMID:20583299|PMID:24767253|PMID:25741868|PMID:25859010|PMID:27608171|PMID:28041643|PMID:28492532|PMID:28981474|PMID:29140481|PMID:31228227|PMID:32770643|PMID:33576794|PMID:9536098 11830980 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase gene DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 ISO RGD:1606456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 PMID:28492532 11830980 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase gene DOID:0111393 mucopolysaccharidosis type IIIC ISO RGD:1606456 D RGD:7240710 20191030 OMIM 11830980 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase gene DOID:0111393 mucopolysaccharidosis type IIIC ISO RGD:1606456 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIC (Sanfilippo C) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C PMID:16199547|PMID:16960811|PMID:17033958|PMID:17397050|PMID:17576681|PMID:18024218|PMID:18518886|PMID:19479962|PMID:19763152|PMID:19823584|PMID:20307669|PMID:20583299|PMID:20825431|PMID:21384162|PMID:21910976|PMID:22406018|PMID:23301227|PMID:24767253|PMID:25326635|PMID:25491247|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25859010|PMID:26287674|PMID:26350204|PMID:27243974|PMID:27608171|PMID:27733599|PMID:27827379|PMID:28041643|PMID:28101780|PMID:28397838|PMID:28468868|PMID:28492532|PMID:28981474|PMID:29140481|PMID:29870682|PMID:30809705|PMID:31228227|PMID:31536183|PMID:32770643|PMID:33576794|PMID:33673364|PMID:34580245|PMID:35848209|PMID:9536098 11830980 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase gene DOID:0111959 immunodeficiency 15B ISO RGD:1606456 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 11830980 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase gene DOID:10584 retinitis pigmentosa ISO RGD:1606456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17033958|PMID:19479962|PMID:19823584|PMID:20583299|PMID:25741868|PMID:25859010|PMID:27608171|PMID:28041643|PMID:28492532|PMID:28981474|PMID:31228227|PMID:32770643|PMID:33576794|PMID:34580245 11830980 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase gene DOID:1059 intellectual disability ISO RGD:1606456 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21910976|PMID:25741868|PMID:28492532|PMID:29870682 11830980 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase gene DOID:12798 mucopolysaccharidosis ISO RGD:1606456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis PMID:17033958|PMID:18024218|PMID:19479962|PMID:19823584|PMID:20583299|PMID:20825431|PMID:25741868|PMID:27827379|PMID:28492532|PMID:31536183 11830980 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase gene DOID:12801 mucopolysaccharidosis III ISO RGD:1606456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sanfilippo syndrome PMID:16199547|PMID:16960811|PMID:17033958|PMID:17397050|PMID:18024218|PMID:18518886|PMID:19479962|PMID:19823584|PMID:20583299|PMID:20825431|PMID:21384162|PMID:23301227|PMID:24767253|PMID:25491247|PMID:25525159|PMID:25741868|PMID:26287674|PMID:26350204|PMID:27243974|PMID:28101780|PMID:28468868|PMID:28492532|PMID:29140481|PMID:31228227|PMID:31536183 11830980 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase gene DOID:1826 epilepsy ISO RGD:1606456 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11830980 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase gene DOID:630 genetic disease ISO RGD:1606456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:16960811|PMID:17033958|PMID:19479962|PMID:21910976|PMID:25741868|PMID:28492532|PMID:29140481|PMID:29870682|PMID:31228227 11830980 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase gene DOID:8501 fundus dystrophy ISO RGD:1606456 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:17033958|PMID:17397050|PMID:17576681|PMID:18024218|PMID:19479962|PMID:19823584|PMID:20583299|PMID:20825431|PMID:23301227|PMID:24767253|PMID:25491247|PMID:25525159|PMID:25741868|PMID:25859010|PMID:26350204|PMID:27243974|PMID:27608171|PMID:28041643|PMID:28101780|PMID:28492532|PMID:28981474|PMID:31228227|PMID:32770643|PMID:33576794|PMID:35848209|PMID:9536098 11830980 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1606456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 11831005 MLH3 mutL homolog 3 gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:1319451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:25741868 11831005 MLH3 mutL homolog 3 gene DOID:0070271 Lynch syndrome 1 ISO RGD:1319451 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868|PMID:28492532 11831005 MLH3 mutL homolog 3 gene DOID:0070276 hereditary nonpolyposis colorectal cancer type 7 ISO RGD:1319451 D RGD:7240710 20180130 OMIM 11831005 MLH3 mutL homolog 3 gene DOID:0070276 hereditary nonpolyposis colorectal cancer type 7 ISO RGD:1319451 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 7 PMID:11586295|PMID:12702580|PMID:12800209|PMID:16199547|PMID:16885347|PMID:16981255|PMID:17312306|PMID:17576681|PMID:17656264|PMID:18414213|PMID:18521850|PMID:19156873|PMID:21153778|PMID:22290698|PMID:23376243|PMID:23960188|PMID:24549055|PMID:25142776|PMID:25637381|PMID:25741868|PMID:25927356|PMID:26296701|PMID:26546047|PMID:27696107|PMID:28166811|PMID:28195393|PMID:28492532|PMID:29212164|PMID:29641532|PMID:29945567|PMID:30614234|PMID:31043711|PMID:31921681|PMID:32984025|PMID:33294277|PMID:34106356|PMID:34408140|PMID:9536098 11831005 MLH3 mutL homolog 3 gene DOID:1059 intellectual disability ISO RGD:1319451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11831005 MLH3 mutL homolog 3 gene DOID:1380 endometrial cancer ISO RGD:1319451 D RGD:7240710 20190213 OMIM 11831005 MLH3 mutL homolog 3 gene DOID:1380 endometrial cancer ISO RGD:1319451 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Endometrial cancer PMID:12702580|PMID:28195393 11831005 MLH3 mutL homolog 3 gene DOID:1520 colon carcinoma ISO RGD:1319451 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:11317354|PMID:35292633 11831005 MLH3 mutL homolog 3 gene DOID:1612 breast cancer ISO RGD:1319451 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532 11831005 MLH3 mutL homolog 3 gene DOID:2394 ovarian cancer ISO RGD:1319451 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 11831005 MLH3 mutL homolog 3 gene DOID:2871 endometrial carcinoma ISO RGD:1319451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:12702580|PMID:17656264|PMID:22290698|PMID:25741868|PMID:28492532 11831005 MLH3 mutL homolog 3 gene DOID:3459 breast carcinoma ISO RGD:1319451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:25741868 11831005 MLH3 mutL homolog 3 gene DOID:3883 Lynch syndrome ISO RGD:1319451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:11586295|PMID:18521850|PMID:19156873|PMID:25637381|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29212164 11831005 MLH3 mutL homolog 3 gene DOID:3883 Lynch syndrome ISO RGD:1319451 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:11586295|PMID:12800209|PMID:18521850|PMID:19156873|PMID:25637381|PMID:25741868|PMID:28492532|PMID:29212164 11831005 MLH3 mutL homolog 3 gene DOID:5426 primary ovarian insufficiency ISO RGD:1319451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868|PMID:28492532 11831005 MLH3 mutL homolog 3 gene DOID:630 genetic disease ISO RGD:1319451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11831005 MLH3 mutL homolog 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1319451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16981255 11831005 MLH3 mutL homolog 3 gene DOID:9002704 Leukoencephalopathies ISO RGD:1319451 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CACH/VWM syndrome PMID:25741868 11831005 MLH3 mutL homolog 3 gene DOID:9005348 Leukoencephalopathy with Vanishing White Matter 1 ISO RGD:1319451 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1 PMID:25741868 11831005 MLH3 mutL homolog 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer PMID:25741868|PMID:28492532 11831005 MLH3 mutL homolog 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319451 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11586295|PMID:12702580|PMID:12800209|PMID:16885347|PMID:16981255|PMID:17312306|PMID:17576681|PMID:17656264|PMID:18521850|PMID:19156873|PMID:21153778|PMID:22290698|PMID:23376243|PMID:23960188|PMID:24549055|PMID:25637381|PMID:25741868|PMID:25927356|PMID:26546047|PMID:27696107|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28944238|PMID:29212164|PMID:29641532|PMID:29945567|PMID:31043711|PMID:31921681|PMID:32984025|PMID:33606809|PMID:33821390|PMID:9536098 11831005 MLH3 mutL homolog 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11586295|PMID:12702580|PMID:12800209|PMID:16885347|PMID:16981255|PMID:17312306|PMID:17576681|PMID:17656264|PMID:18521850|PMID:19156873|PMID:21153778|PMID:22290698|PMID:23376243|PMID:23960188|PMID:24549055|PMID:25637381|PMID:25741868|PMID:25927356|PMID:26546047|PMID:27696107|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28944238|PMID:29212164|PMID:29641532|PMID:29945567|PMID:31043711|PMID:31921681|PMID:32984025|PMID:33294277|PMID:33606809|PMID:33821390|PMID:34106356|PMID:9536098 11831005 MLH3 mutL homolog 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319451 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11317354|PMID:11586295|PMID:12702580|PMID:12800209|PMID:16885347|PMID:16981255|PMID:17312306|PMID:17576681|PMID:17656264|PMID:18521850|PMID:19156873|PMID:21153778|PMID:22290698|PMID:23376243|PMID:23960188|PMID:24549055|PMID:25637381|PMID:25741868|PMID:25927356|PMID:26546047|PMID:27696107|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28944238|PMID:29212164|PMID:29641532|PMID:29945567|PMID:31043711|PMID:31921681|PMID:32984025|PMID:33294277|PMID:33606809|PMID:33821390|PMID:34106356|PMID:34408140|PMID:35292633|PMID:9536098 11831005 MLH3 mutL homolog 3 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1319451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11831005 MLH3 mutL homolog 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17656264 11831005 MLH3 mutL homolog 3 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1319451 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532 11831005 MLH3 mutL homolog 3 gene DOID:9256 colorectal cancer ISO RGD:1319451 D RGD:7240710 20200226 OMIM 11831005 MLH3 mutL homolog 3 gene DOID:9256 colorectal cancer ISO RGD:1319451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:25741868|PMID:28492532|PMID:29212164 11831005 MLH3 mutL homolog 3 gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:1319451 D RGD:9068941 20220825 RGD DNA:SNP:3'utr: (rs108621) PMID:29516665|REF_RGD_ID:153344543 11831022 RTL1 retrotransposon Gag like 1 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1602404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 11831022 RTL1 retrotransposon Gag like 1 gene DOID:630 genetic disease ISO RGD:1602404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831036 TRPC3 transient receptor potential cation channel subfamily C member 3 gene DOID:0111744 cerebellar ataxia type 41 ISO RGD:733864 D RGD:7240710 20180130 OMIM 11831036 TRPC3 transient receptor potential cation channel subfamily C member 3 gene DOID:0111744 cerebellar ataxia type 41 ISO RGD:733864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 41 PMID:25477146|PMID:25741868|PMID:28492532 11831036 TRPC3 transient receptor potential cation channel subfamily C member 3 gene DOID:10763 hypertension ISO RGD:733864 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17351372 11831036 TRPC3 transient receptor potential cation channel subfamily C member 3 gene DOID:3312 bipolar disorder ISO RGD:733864 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23602965 11831036 TRPC3 transient receptor potential cation channel subfamily C member 3 gene DOID:630 genetic disease ISO RGD:733864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831036 TRPC3 transient receptor potential cation channel subfamily C member 3 gene DOID:6432 pulmonary hypertension ISO RGD:733864 D RGD:9068941 20200609 RGD PMID:15358862|REF_RGD_ID:1580490 11831036 TRPC3 transient receptor potential cation channel subfamily C member 3 gene DOID:9001542 Albuminuria ISO RGD:61973 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA, protein:increased expression:kidney cortex PMID:19887786|REF_RGD_ID:7247603 11831036 TRPC3 transient receptor potential cation channel subfamily C member 3 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:733864 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11831036 TRPC3 transient receptor potential cation channel subfamily C member 3 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:733864 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 11831036 TRPC3 transient receptor potential cation channel subfamily C member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11831052 B3GNTL1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1 gene DOID:630 genetic disease ISO RGD:1603899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831068 EFCAB6 EF-hand calcium binding domain 6 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1601856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11831068 EFCAB6 EF-hand calcium binding domain 6 gene DOID:10283 prostate cancer ISO RGD:1601856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11831068 EFCAB6 EF-hand calcium binding domain 6 gene DOID:1059 intellectual disability ISO RGD:1601856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11831068 EFCAB6 EF-hand calcium binding domain 6 gene DOID:630 genetic disease ISO RGD:1601856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831126 TBC1D30 TBC1 domain family member 30 gene DOID:630 genetic disease ISO RGD:2291766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831240 CLDN7 claudin 7 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:68646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11831240 CLDN7 claudin 7 gene DOID:0080600 COVID-19 ISO RGD:68646 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11831240 CLDN7 claudin 7 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:68646 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11831240 CLDN7 claudin 7 gene DOID:1059 intellectual disability ISO RGD:68646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11831240 CLDN7 claudin 7 gene DOID:12177 common variable immunodeficiency ISO RGD:68646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11831240 CLDN7 claudin 7 gene DOID:2729 dyskeratosis congenita ISO RGD:68646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11831240 CLDN7 claudin 7 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:68646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11831240 CLDN7 claudin 7 gene DOID:4001 ovarian carcinoma ISO RGD:68646 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:21134740 11831240 CLDN7 claudin 7 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:68646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 11831240 CLDN7 claudin 7 gene DOID:4481 allergic rhinitis ISO RGD:68646 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:33441633 11831240 CLDN7 claudin 7 gene DOID:630 genetic disease ISO RGD:68646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831240 CLDN7 claudin 7 gene DOID:9000965 Neoplasm Metastasis ISO RGD:68432 D RGD:9068941 20200609 RGD PMID:23390083|REF_RGD_ID:9685143 11831240 CLDN7 claudin 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11831254 C1H1orf185 chromosome 1 C1orf185 homolog gene DOID:0060224 atrial fibrillation ISO RGD:1601806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 11831254 C1H1orf185 chromosome 1 C1orf185 homolog gene DOID:630 genetic disease ISO RGD:1601806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831262 CCL24 C-C motif chemokine ligand 24 gene DOID:0060500 drug allergy ISO RGD:1321033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14616128 11831262 CCL24 C-C motif chemokine ligand 24 gene DOID:1205 allergic disease ISO RGD:1321033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11831262 CCL24 C-C motif chemokine ligand 24 gene DOID:2841 asthma ISO RGD:1321033 D RGD:9068941 20200609 RGD PMID:17548626|REF_RGD_ID:4891484 11831262 CCL24 C-C motif chemokine ligand 24 gene DOID:2841 asthma ISO RGD:1321033 D RGD:9068941 20200609 RGD DNA:SNP: :1265A>G (human) PMID:12761043|REF_RGD_ID:5130932 11831262 CCL24 C-C motif chemokine ligand 24 gene DOID:2841 asthma ISO RGD:1321033 D RGD:9068941 20200609 RGD DNA:SNPs: :304C>A, 1272A>G (human) PMID:18712274|REF_RGD_ID:4891483 11831262 CCL24 C-C motif chemokine ligand 24 gene DOID:2841 asthma ISO RGD:1321033 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16304252|REF_RGD_ID:5130930 11831262 CCL24 C-C motif chemokine ligand 24 gene DOID:2841 asthma ISO RGD:1321033 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:12952266|REF_RGD_ID:4891496 11831262 CCL24 C-C motif chemokine ligand 24 gene DOID:2841 asthma ISO RGD:1321034 D RGD:9068941 20200609 RGD PMID:17060636|REF_RGD_ID:4891485 11831262 CCL24 C-C motif chemokine ligand 24 gene DOID:2841 asthma susceptibility ISO RGD:1321033 D RGD:9068941 20200609 RGD DNA:SNPs: :179T>C, 275C>T (human) PMID:15207712|REF_RGD_ID:4891495 11831262 CCL24 C-C motif chemokine ligand 24 gene DOID:3310 atopic dermatitis ISO RGD:1321033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 11831262 CCL24 C-C motif chemokine ligand 24 gene DOID:4483 rhinitis ISO RGD:1321033 D RGD:9068941 20200609 RGD DNA:SNPs: :179T>C, 275C>T (human) PMID:15580493|REF_RGD_ID:4891493 11831262 CCL24 C-C motif chemokine ligand 24 gene DOID:4483 rhinitis ISO RGD:1321033 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium PMID:17982926|REF_RGD_ID:4145109 11831262 CCL24 C-C motif chemokine ligand 24 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11831262 CCL24 C-C motif chemokine ligand 24 gene DOID:552 pneumonia ISO RGD:1321033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11831262 CCL24 C-C motif chemokine ligand 24 gene DOID:630 genetic disease ISO RGD:1321033 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831262 CCL24 C-C motif chemokine ligand 24 gene DOID:8544 chronic fatigue syndrome ISO RGD:1321033 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:26615570|REF_RGD_ID:11538286 11831262 CCL24 C-C motif chemokine ligand 24 gene DOID:9001371 Eosinophilia ISO RGD:1321033 D RGD:9068941 20200609 RGD associated with Sinusitis PMID:19296494|REF_RGD_ID:4891487 11831262 CCL24 C-C motif chemokine ligand 24 gene DOID:9001472 Nasal Polyps ISO RGD:1321033 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium PMID:10415058|REF_RGD_ID:4145448 11831262 CCL24 C-C motif chemokine ligand 24 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1321033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 11831269 RPEL1 ribulose-5-phosphate-3-epimerase like 1 gene DOID:630 genetic disease ISO RGD:7951258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831274 ELFN2 extracellular leucine rich repeat and fibronectin type III domain containing 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1606182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11831274 ELFN2 extracellular leucine rich repeat and fibronectin type III domain containing 2 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1606182 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11831274 ELFN2 extracellular leucine rich repeat and fibronectin type III domain containing 2 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1606182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11831274 ELFN2 extracellular leucine rich repeat and fibronectin type III domain containing 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1606182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11831274 ELFN2 extracellular leucine rich repeat and fibronectin type III domain containing 2 gene DOID:630 genetic disease ISO RGD:1606182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831301 ANKLE2 ankyrin repeat and LEM domain containing 2 gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:1604388 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:25741868 11831301 ANKLE2 ankyrin repeat and LEM domain containing 2 gene DOID:0070289 primary autosomal recessive microcephaly 16 ISO RGD:1604388 D RGD:7240710 20180130 OMIM 11831301 ANKLE2 ankyrin repeat and LEM domain containing 2 gene DOID:0070289 primary autosomal recessive microcephaly 16 ISO RGD:1604388 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Microcephaly 16, primary, autosomal recessive PMID:23806086|PMID:24088041|PMID:25259927|PMID:25741868|PMID:30214071|PMID:31735666|PMID:35871307 11831301 ANKLE2 ankyrin repeat and LEM domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1604388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 11831301 ANKLE2 ankyrin repeat and LEM domain containing 2 gene DOID:10907 microcephaly ISO RGD:1604388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:23806086|PMID:24088041|PMID:25259927 11831301 ANKLE2 ankyrin repeat and LEM domain containing 2 gene DOID:630 genetic disease ISO RGD:1604388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11831301 ANKLE2 ankyrin repeat and LEM domain containing 2 gene DOID:9002704 Leukoencephalopathies ISO RGD:1604388 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Childhood ataxia with diffuse central nervous system hypomyelination PMID:25741868 11831301 ANKLE2 ankyrin repeat and LEM domain containing 2 gene DOID:9005348 Leukoencephalopathy with Vanishing White Matter 1 ISO RGD:1604388 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1 PMID:25741868 11831301 ANKLE2 ankyrin repeat and LEM domain containing 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:1604388 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:25741868 11831301 ANKLE2 ankyrin repeat and LEM domain containing 2 gene DOID:9256 colorectal cancer ISO RGD:1604388 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:23230001|PMID:25948378|PMID:28492532|PMID:30503519 11831327 ZNF124 zinc finger protein 124 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1314784 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11831327 ZNF124 zinc finger protein 124 gene DOID:13938 amenorrhea ISO RGD:1314784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11831327 ZNF124 zinc finger protein 124 gene DOID:1540 parathyroid carcinoma ISO RGD:1314784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11831327 ZNF124 zinc finger protein 124 gene DOID:630 genetic disease ISO RGD:1314784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831327 ZNF124 zinc finger protein 124 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11831358 KCMF1 potassium channel modulatory factor 1 gene DOID:630 genetic disease ISO RGD:1315004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831370 TXLNA taxilin alpha gene DOID:630 genetic disease ISO RGD:1603882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831388 NLRP12 NLR family pyrin domain containing 12 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1319748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children PMID:25741868|PMID:28492532 11831388 NLRP12 NLR family pyrin domain containing 12 gene DOID:0090061 familial cold autoinflammatory syndrome ISO RGD:1319748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome PMID:24033266|PMID:24064030|PMID:25741868|PMID:27314497|PMID:27633793|PMID:28492532 11831388 NLRP12 NLR family pyrin domain containing 12 gene DOID:0090063 familial cold autoinflammatory syndrome 2 ISO RGD:1319748 D RGD:7240710 20180130 OMIM 11831388 NLRP12 NLR family pyrin domain containing 12 gene DOID:0090063 familial cold autoinflammatory syndrome 2 ISO RGD:1319748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 PMID:16199547|PMID:17576681|PMID:18230725|PMID:21360512|PMID:21538323|PMID:24033266|PMID:24064030|PMID:25064839|PMID:25640679|PMID:25741868|PMID:26508570|PMID:27314497|PMID:27633793|PMID:28166811|PMID:28492532|PMID:29500522|PMID:30788684|PMID:31155445|PMID:31820221|PMID:32888943|PMID:9536098 11831388 NLRP12 NLR family pyrin domain containing 12 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1319748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:16199547|PMID:17576681|PMID:18230725|PMID:21360512|PMID:21538323|PMID:24033266|PMID:24064030|PMID:25741868|PMID:27314497|PMID:27633793|PMID:28492532|PMID:29500522|PMID:30788684|PMID:31820221|PMID:9536098 11831388 NLRP12 NLR family pyrin domain containing 12 gene DOID:2987 familial Mediterranean fever ISO RGD:1319748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Periodic fever syndrome PMID:28492532 11831388 NLRP12 NLR family pyrin domain containing 12 gene DOID:4450 renal cell carcinoma ISO RGD:1319748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 11831388 NLRP12 NLR family pyrin domain containing 12 gene DOID:630 genetic disease ISO RGD:1319748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11831388 NLRP12 NLR family pyrin domain containing 12 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1319748 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570|PMID:28492532 11831388 NLRP12 NLR family pyrin domain containing 12 gene DOID:9074 systemic lupus erythematosus ISO RGD:1319748 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 10 PMID:25741868|PMID:28492532 11831407 ZNF540 zinc finger protein 540 gene DOID:0080600 COVID-19 ISO RGD:1346331 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11831407 ZNF540 zinc finger protein 540 gene DOID:630 genetic disease ISO RGD:1346331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831416 RBM19 RNA binding motif protein 19 gene DOID:630 genetic disease ISO RGD:1318980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831445 BPHL biphenyl hydrolase like gene DOID:630 genetic disease ISO RGD:1316844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831470 SLCO2A1 solute carrier organic anion transporter family member 2A1 gene DOID:0060041 autism spectrum disorder ISO RGD:736966 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11831470 SLCO2A1 solute carrier organic anion transporter family member 2A1 gene DOID:14283 primary hypertrophic osteoarthropathy ISO RGD:736966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11831470 SLCO2A1 solute carrier organic anion transporter family member 2A1 gene DOID:630 genetic disease ISO RGD:736966 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11831470 SLCO2A1 solute carrier organic anion transporter family member 2A1 gene DOID:9000535 Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 2 ISO RGD:736966 D RGD:7240710 20180130 OMIM 11831470 SLCO2A1 solute carrier organic anion transporter family member 2A1 gene DOID:9000535 Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 2 ISO RGD:736966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 PMID:16283874|PMID:22197487|PMID:22331663|PMID:22553128|PMID:22906430|PMID:23509104|PMID:24012041|PMID:24153155|PMID:24838973|PMID:24929850|PMID:25741868|PMID:25810087|PMID:26072672|PMID:26539716|PMID:27134495|PMID:28492532|PMID:28963081|PMID:29313109|PMID:33852188 11831470 SLCO2A1 solute carrier organic anion transporter family member 2A1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15805072 11831470 SLCO2A1 solute carrier organic anion transporter family member 2A1 gene DOID:9007281 Primary Hypertrophic Osteoarthropathy, Autosomal Dominant ISO RGD:736966 D RGD:7240710 20210707 OMIM 11831470 SLCO2A1 solute carrier organic anion transporter family member 2A1 gene DOID:9007281 Primary Hypertrophic Osteoarthropathy, Autosomal Dominant ISO RGD:736966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic osteoarthropathy, primary, autosomal dominant PMID:16283874|PMID:22197487|PMID:22553128|PMID:22906430|PMID:23509104|PMID:24153155|PMID:24838973|PMID:24929850|PMID:25741868|PMID:26539716|PMID:27134495|PMID:28492532|PMID:33852188 11831470 SLCO2A1 solute carrier organic anion transporter family member 2A1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 11831470 SLCO2A1 solute carrier organic anion transporter family member 2A1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:736966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 11831501 WRAP73 WD repeat containing, antisense to TP73 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1350775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11831501 WRAP73 WD repeat containing, antisense to TP73 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1350775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11831501 WRAP73 WD repeat containing, antisense to TP73 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1350775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11831501 WRAP73 WD repeat containing, antisense to TP73 gene DOID:0111934 immunodeficiency 38 ISO RGD:1350775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11831501 WRAP73 WD repeat containing, antisense to TP73 gene DOID:0111935 immunodeficiency 16 ISO RGD:1350775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11831501 WRAP73 WD repeat containing, antisense to TP73 gene DOID:630 genetic disease ISO RGD:1350775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831501 WRAP73 WD repeat containing, antisense to TP73 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11831501 WRAP73 WD repeat containing, antisense to TP73 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1350775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11831524 NAIF1 nuclear apoptosis inducing factor 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1348051 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11831524 NAIF1 nuclear apoptosis inducing factor 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1348051 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11831524 NAIF1 nuclear apoptosis inducing factor 1 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1348051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11831524 NAIF1 nuclear apoptosis inducing factor 1 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1348051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 11831524 NAIF1 nuclear apoptosis inducing factor 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1348051 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11831524 NAIF1 nuclear apoptosis inducing factor 1 gene DOID:630 genetic disease ISO RGD:1348051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831534 ENPP5 ectonucleotide pyrophosphatase/phosphodiesterase family member 5 gene DOID:0080600 COVID-19 ISO RGD:1349666 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11831534 ENPP5 ectonucleotide pyrophosphatase/phosphodiesterase family member 5 gene DOID:630 genetic disease ISO RGD:1349666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831534 ENPP5 ectonucleotide pyrophosphatase/phosphodiesterase family member 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349666 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11831546 OSTC oligosaccharyltransferase complex non-catalytic subunit gene DOID:0080600 COVID-19 ISO RGD:1607011 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11831546 OSTC oligosaccharyltransferase complex non-catalytic subunit gene DOID:630 genetic disease ISO RGD:1607011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831554 LOC100970983 olfactory receptor 14J1 gene DOID:11372 megacolon ISO RGD:1344262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11831554 LOC100970983 olfactory receptor 14J1 gene DOID:630 genetic disease ISO RGD:1344262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831571 ADCK2 aarF domain containing kinase 2 gene DOID:0080690 RASopathy ISO RGD:1322312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 11831571 ADCK2 aarF domain containing kinase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11831571 ADCK2 aarF domain containing kinase 2 gene DOID:630 genetic disease ISO RGD:1322312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831571 ADCK2 aarF domain containing kinase 2 gene DOID:699 mitochondrial myopathy ISO RGD:1322313 D RGD:9068941 20220825 MouseDO OMIM:251900 11831583 DAPP1 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 gene DOID:0080600 COVID-19 ISO RGD:1320943 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11831583 DAPP1 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 gene DOID:630 genetic disease ISO RGD:1320943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831583 DAPP1 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 gene DOID:8398 osteoarthritis ISO RGD:1320943 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11831601 LOC100974890 cytochrome b-c1 complex subunit Rieske, mitochondrial gene DOID:0050700 cardiomyopathy ISO RGD:1350936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:31883641 11831601 LOC100974890 cytochrome b-c1 complex subunit Rieske, mitochondrial gene DOID:14701 propionic acidemia ISO RGD:1350936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:31883641 11831601 LOC100974890 cytochrome b-c1 complex subunit Rieske, mitochondrial gene DOID:3650 lactic acidosis ISO RGD:1350936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lactic acidosis PMID:31883641 11831601 LOC100974890 cytochrome b-c1 complex subunit Rieske, mitochondrial gene DOID:630 genetic disease ISO RGD:1350936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831601 LOC100974890 cytochrome b-c1 complex subunit Rieske, mitochondrial gene DOID:700 mitochondrial metabolism disease ISO RGD:1557988 D RGD:9068941 20220825 MouseDO 11831601 LOC100974890 cytochrome b-c1 complex subunit Rieske, mitochondrial gene DOID:9000693 Mitochondrial Complex III Deficiency Nuclear Type 10 ISO RGD:1350936 D RGD:7240710 20200226 OMIM 11831601 LOC100974890 cytochrome b-c1 complex subunit Rieske, mitochondrial gene DOID:9000693 Mitochondrial Complex III Deficiency Nuclear Type 10 ISO RGD:1350936 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 PMID:25741868|PMID:31883641 11831601 LOC100974890 cytochrome b-c1 complex subunit Rieske, mitochondrial gene DOID:9007090 Experimental Seizures ISO RGD:628838 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:15730530|REF_RGD_ID:2303356 11831601 LOC100974890 cytochrome b-c1 complex subunit Rieske, mitochondrial gene DOID:9007102 Myocardial Ischemia ISO RGD:1350936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11831607 SAP30L SAP30 like gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606218 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11831607 SAP30L SAP30 like gene DOID:11612 polycystic ovary syndrome ISO RGD:1606218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11831607 SAP30L SAP30 like gene DOID:630 genetic disease ISO RGD:1606218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831607 SAP30L SAP30 like gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606218 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11831615 SLC39A10 solute carrier family 39 member 10 gene DOID:630 genetic disease ISO RGD:1316445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831615 SLC39A10 solute carrier family 39 member 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11831615 SLC39A10 solute carrier family 39 member 10 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1316445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17359283 11831650 LCE3B late cornified envelope 3B gene DOID:0111940 immunodeficiency 42 ISO RGD:1346486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11831650 LCE3B late cornified envelope 3B gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1346486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11831650 LCE3B late cornified envelope 3B gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1346486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11831650 LCE3B late cornified envelope 3B gene DOID:1540 parathyroid carcinoma ISO RGD:1346486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11831650 LCE3B late cornified envelope 3B gene DOID:5812 MHC class II deficiency ISO RGD:1346486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11831650 LCE3B late cornified envelope 3B gene DOID:630 genetic disease ISO RGD:1346486 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831650 LCE3B late cornified envelope 3B gene DOID:8893 psoriasis ISO RGD:1346486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19169253 11831650 LCE3B late cornified envelope 3B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11831662 RPS13 ribosomal protein S13 gene DOID:1059 intellectual disability ISO RGD:737303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11831672 DUOX2 dual oxidase 2 gene DOID:0050328 congenital hypothyroidism ISO RGD:1353863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:12110737|PMID:16322276|PMID:16608528|PMID:17121535|PMID:18765513|PMID:19789206|PMID:20972728|PMID:21565790|PMID:24033266|PMID:24423310|PMID:24735383|PMID:25741868|PMID:26990548|PMID:27525530|PMID:27557340|PMID:27821020|PMID:28492532|PMID:28666341|PMID:30084132|PMID:30240412|PMID:30487145|PMID:31044655|PMID:32765423 11831672 DUOX2 dual oxidase 2 gene DOID:0050712 AGAT deficiency ISO RGD:1353863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 11831672 DUOX2 dual oxidase 2 gene DOID:0112183 familial thyroid dyshormonogenesis ISO RGD:1353863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial thyroid dyshormonogenesis PMID:12110737|PMID:16322276|PMID:18765513|PMID:20972728|PMID:21565790|PMID:21900383|PMID:23457309|PMID:24033266|PMID:24423310|PMID:24735383|PMID:25248169|PMID:25741868|PMID:26709262|PMID:26990548|PMID:27525530|PMID:27821020|PMID:28492532|PMID:28666341|PMID:29092890|PMID:29650690|PMID:30084132|PMID:30240412|PMID:30487145|PMID:31044655|PMID:32765423 11831672 DUOX2 dual oxidase 2 gene DOID:0112189 thyroid dyshormonogenesis 6 ISO RGD:1353863 D RGD:7240710 20180130 OMIM 11831672 DUOX2 dual oxidase 2 gene DOID:0112189 thyroid dyshormonogenesis 6 ISO RGD:1353863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thyroid dyshormonogenesis 6 PMID:12110737|PMID:16134168|PMID:16199547|PMID:16322276|PMID:16608528|PMID:17121535|PMID:17374849|PMID:17576681|PMID:18765513|PMID:19789206|PMID:20187165|PMID:20972728|PMID:21565790|PMID:21900383|PMID:22336364|PMID:23457309|PMID:24033266|PMID:24127536|PMID:24423310|PMID:24735383|PMID:25248169|PMID:25616291|PMID:25741868|PMID:25928756|PMID:26301257|PMID:26334177|PMID:26349762|PMID:26565538|PMID:26709262|PMID:26742565|PMID:26990548|PMID:27108200|PMID:27166716|PMID:27349010|PMID:27498126|PMID:27525530|PMID:27557340|PMID:27821020|PMID:28444304|PMID:28492532|PMID:28541007|PMID:28648510|PMID:28666341|PMID:28683258|PMID:29092890|PMID:29546359|PMID:29650690|PMID:30022773|PMID:30084132|PMID:30154845|PMID:30240412|PMID:30487145|PMID:30512158|PMID:30894704|PMID:31030636|PMID:31044655|PMID:32319661|PMID:32425884|PMID:32459320|PMID:32765423|PMID:33631011|PMID:34248839|PMID:34276565|PMID:34564849|PMID:9536098 11831672 DUOX2 dual oxidase 2 gene DOID:1498 cholera treatment ISO RGD:1353863 D RGD:9068941 20210122 RGD PMID:29133347|REF_RGD_ID:40925924 11831672 DUOX2 dual oxidase 2 gene DOID:2717 Bloom syndrome ISO RGD:1353863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11831672 DUOX2 dual oxidase 2 gene DOID:50 thyroid gland disease ISO RGD:1353863 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Abnormal circulating thyroid hormone concentration PMID:25741868 11831672 DUOX2 dual oxidase 2 gene DOID:630 genetic disease ISO RGD:1353863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12110737|PMID:16322276|PMID:17576681|PMID:18765513|PMID:19789206|PMID:20972728|PMID:21565790|PMID:21900383|PMID:23457309|PMID:24033266|PMID:24127536|PMID:24423310|PMID:24735383|PMID:25248169|PMID:25741868|PMID:26709262|PMID:26990548|PMID:27525530|PMID:27821020|PMID:28492532|PMID:28666341|PMID:29092890|PMID:29650690|PMID:30084132|PMID:30240412|PMID:30375286|PMID:30487145|PMID:31044655|PMID:31867598|PMID:32319661|PMID:32765423|PMID:9536098 11831672 DUOX2 dual oxidase 2 gene DOID:8577 ulcerative colitis ISO RGD:1353863 D RGD:9068941 20210122 RGD mRNA:increased expression:colon (human) PMID:19759286|REF_RGD_ID:40924645 11831672 DUOX2 dual oxidase 2 gene DOID:8778 Crohn's disease ISO RGD:1353863 D RGD:9068941 20210122 RGD mRNA:increased expression:colon (human) PMID:19759286|REF_RGD_ID:40924645 11831672 DUOX2 dual oxidase 2 gene DOID:9000371 influenza A severity ISO RGD:1332300 D RGD:9068941 20210122 RGD PMID:25751630|PMID:28936773|PMID:29556357|REF_RGD_ID:40924644|REF_RGD_ID:40925921|REF_RGD_ID:40925925 11831672 DUOX2 dual oxidase 2 gene DOID:9007120 Meckel Syndrome 11 ISO RGD:1353863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 11 PMID:21565790|PMID:25741868|PMID:28492532 11831672 DUOX2 dual oxidase 2 gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:1353863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 11831672 DUOX2 dual oxidase 2 gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:1353863 D RGD:9068941 20210115 RGD mRNA,protein:decreased expression:mucosa of stomach (human) PMID:27048452|REF_RGD_ID:40924640 11831672 DUOX2 dual oxidase 2 gene DOID:9256 colorectal cancer ISO RGD:1353863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11831707 NBL1 NBL1, DAN family BMP antagonist gene DOID:0060369 Parkinson's disease 6 ISO RGD:736912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11831707 NBL1 NBL1, DAN family BMP antagonist gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:736912 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11831707 NBL1 NBL1, DAN family BMP antagonist gene DOID:0080543 hyperprolinemia type 2 ISO RGD:736912 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11831707 NBL1 NBL1, DAN family BMP antagonist gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:736912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11831707 NBL1 NBL1, DAN family BMP antagonist gene DOID:630 genetic disease ISO RGD:736912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831707 NBL1 NBL1, DAN family BMP antagonist gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:736912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11831714 LAMP5 lysosomal associated membrane protein family member 5 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1315920 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 11831714 LAMP5 lysosomal associated membrane protein family member 5 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:1315920 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 11831714 LAMP5 lysosomal associated membrane protein family member 5 gene DOID:630 genetic disease ISO RGD:1315920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831714 LAMP5 lysosomal associated membrane protein family member 5 gene DOID:9245 Alagille syndrome ISO RGD:1315920 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:28492532|PMID:32733715 11831724 P2RY14 purinergic receptor P2Y14 gene DOID:0050579 glycogen storage disease XV ISO RGD:1347256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 11831724 P2RY14 purinergic receptor P2Y14 gene DOID:0080600 COVID-19 ISO RGD:1347256 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11831724 P2RY14 purinergic receptor P2Y14 gene DOID:630 genetic disease ISO RGD:1347256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831734 CEP162 centrosomal protein 162 gene DOID:630 genetic disease ISO RGD:1316522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831775 YBX2 Y-box binding protein 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1606288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11831775 YBX2 Y-box binding protein 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1606288 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11831775 YBX2 Y-box binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1606288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11831775 YBX2 Y-box binding protein 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1606288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11831775 YBX2 Y-box binding protein 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1606288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11831775 YBX2 Y-box binding protein 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1606288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11831775 YBX2 Y-box binding protein 2 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1606288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 11831775 YBX2 Y-box binding protein 2 gene DOID:630 genetic disease ISO RGD:1606288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831813 SLC9B2 solute carrier family 9 member B2 gene DOID:3633 beta-mannosidosis ISO RGD:1604997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 11831813 SLC9B2 solute carrier family 9 member B2 gene DOID:630 genetic disease ISO RGD:1604997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831840 LANCL1 LanC like glutathione S-transferase 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:69464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11831840 LANCL1 LanC like glutathione S-transferase 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:69464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11831840 LANCL1 LanC like glutathione S-transferase 1 gene DOID:630 genetic disease ISO RGD:69464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831840 LANCL1 LanC like glutathione S-transferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11831864 DTWD2 DTW domain containing 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604482 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11831864 DTWD2 DTW domain containing 2 gene DOID:630 genetic disease ISO RGD:1604482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831864 DTWD2 DTW domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11831864 DTWD2 DTW domain containing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604482 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11831885 ARHGEF40 Rho guanine nucleotide exchange factor 40 gene DOID:10283 prostate cancer ISO RGD:1603998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11831885 ARHGEF40 Rho guanine nucleotide exchange factor 40 gene DOID:2661 myoepithelioma ISO RGD:1603998 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11831885 ARHGEF40 Rho guanine nucleotide exchange factor 40 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1603998 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 11831885 ARHGEF40 Rho guanine nucleotide exchange factor 40 gene DOID:630 genetic disease ISO RGD:1603998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831885 ARHGEF40 Rho guanine nucleotide exchange factor 40 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1603998 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11831917 CAB39L calcium binding protein 39 like gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1319011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11831917 CAB39L calcium binding protein 39 like gene DOID:1059 intellectual disability ISO RGD:1319011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11831917 CAB39L calcium binding protein 39 like gene DOID:630 genetic disease ISO RGD:1319011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11831946 HMCN1 hemicentin 1 gene DOID:0110014 age related macular degeneration 1 ISO RGD:1605323 D RGD:7240710 20180130 OMIM 11831946 HMCN1 hemicentin 1 gene DOID:0110014 age related macular degeneration 1 ISO RGD:1605323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 1 | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 1 PMID:14570714|PMID:17216616|PMID:17576681|PMID:25133751|PMID:25338956|PMID:25741868|PMID:25986072|PMID:27007659|PMID:28492532|PMID:9536098|PMID:9715689 11831946 HMCN1 hemicentin 1 gene DOID:10283 prostate cancer ISO RGD:1605323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11831946 HMCN1 hemicentin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1605323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11831946 HMCN1 hemicentin 1 gene DOID:4448 macular degeneration ISO RGD:1605323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:28492532 11831946 HMCN1 hemicentin 1 gene DOID:630 genetic disease ISO RGD:1605323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11831946 HMCN1 hemicentin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11832057 HSD17B11 hydroxysteroid 17-beta dehydrogenase 11 gene DOID:630 genetic disease ISO RGD:1352920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832057 HSD17B11 hydroxysteroid 17-beta dehydrogenase 11 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1352920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 11832068 ME3 malic enzyme 3 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1322332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 11832068 ME3 malic enzyme 3 gene DOID:1059 intellectual disability ISO RGD:1322332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11832068 ME3 malic enzyme 3 gene DOID:630 genetic disease ISO RGD:1322332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832090 CHRAC1 chromatin accessibility complex subunit 1 gene DOID:630 genetic disease ISO RGD:1319606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832099 KRT39 keratin 39 gene DOID:630 genetic disease ISO RGD:1604916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832111 NAALADL2 N-acetylated alpha-linked acidic dipeptidase like 2 gene DOID:630 genetic disease ISO RGD:1606935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832129 NAGA alpha-N-acetylgalactosaminidase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1314403 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11832129 NAGA alpha-N-acetylgalactosaminidase gene DOID:0080600 COVID-19 ISO RGD:1314403 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11832129 NAGA alpha-N-acetylgalactosaminidase gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1314403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 11832129 NAGA alpha-N-acetylgalactosaminidase gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1314403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 11832129 NAGA alpha-N-acetylgalactosaminidase gene DOID:0112317 Schindler disease ISO RGD:1314403 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency PMID:11251574|PMID:1131374|PMID:11313741|PMID:1313741|PMID:14685826|PMID:17171432|PMID:19683538|PMID:2122121|PMID:2243144|PMID:23045655|PMID:2372288|PMID:24033266|PMID:25741868|PMID:27138754|PMID:2733734|PMID:28492532|PMID:2889023|PMID:29431110|PMID:30487145|PMID:3149698|PMID:31980526|PMID:32860008|PMID:7707696|PMID:8040340|PMID:8071745|PMID:8782044 11832129 NAGA alpha-N-acetylgalactosaminidase gene DOID:0112318 Schindler disease type 1 ISO RGD:1314403 D RGD:7240710 20180130 OMIM 11832129 NAGA alpha-N-acetylgalactosaminidase gene DOID:0112318 Schindler disease type 1 ISO RGD:1314403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 1 PMID:11251574|PMID:1131374|PMID:11313741|PMID:1313741|PMID:14685826|PMID:16199547|PMID:17171432|PMID:17576681|PMID:18414213|PMID:19683538|PMID:19763152|PMID:20307669|PMID:2122121|PMID:22406018|PMID:2243144|PMID:23045655|PMID:2372288|PMID:24033266|PMID:24767253|PMID:25741868|PMID:27138754|PMID:2733734|PMID:28252636|PMID:28492532|PMID:2889023|PMID:29431110|PMID:30487145|PMID:3149698|PMID:31980526|PMID:32860008|PMID:7707696|PMID:8040340|PMID:8071745|PMID:8782044|PMID:9536098 11832129 NAGA alpha-N-acetylgalactosaminidase gene DOID:0112319 Kanzaki disease ISO RGD:1314403 D RGD:7240710 20211013 OMIM 11832129 NAGA alpha-N-acetylgalactosaminidase gene DOID:0112319 Kanzaki disease ISO RGD:1314403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 2 | ClinVar Annotator: match by term: Schindler disease type 2 PMID:11251574|PMID:1131374|PMID:11313741|PMID:1313741|PMID:14685826|PMID:15619430|PMID:16199547|PMID:17171432|PMID:18414213|PMID:19683538|PMID:2122121|PMID:2243144|PMID:23045655|PMID:2372288|PMID:24033266|PMID:24767253|PMID:2564952|PMID:25741868|PMID:27138754|PMID:2733734|PMID:28252636|PMID:28492532|PMID:2889023|PMID:29431110|PMID:30487145|PMID:3149698|PMID:31980526|PMID:32860008|PMID:7707696|PMID:8040340|PMID:8071745|PMID:8782044 11832129 NAGA alpha-N-acetylgalactosaminidase gene DOID:0112320 Schindler disease type 3 ISO RGD:1314403 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 3 PMID:11251574|PMID:11313741|PMID:23045655|PMID:2372288|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31980526|PMID:8071745|PMID:8782044 11832129 NAGA alpha-N-acetylgalactosaminidase gene DOID:1059 intellectual disability ISO RGD:1314403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11832129 NAGA alpha-N-acetylgalactosaminidase gene DOID:2367 neuroaxonal dystrophy ISO RGD:1314403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2243144 11832129 NAGA alpha-N-acetylgalactosaminidase gene DOID:2367 neuroaxonal dystrophy ISO RGD:1314403 D RGD:9068941 20200609 RGD Schindler disease, OMIM:609241, DNA:point mutation:exon:E325K PMID:2243144|REF_RGD_ID:1600557 11832129 NAGA alpha-N-acetylgalactosaminidase gene DOID:479 angiokeratoma ISO RGD:1314403 D RGD:9068941 20200609 RGD Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W PMID:8040340|REF_RGD_ID:1600558 11832129 NAGA alpha-N-acetylgalactosaminidase gene DOID:630 genetic disease ISO RGD:1314403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24767253|PMID:25741868|PMID:28252636|PMID:28492532 11832129 NAGA alpha-N-acetylgalactosaminidase gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1314403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 11832156 USP47 ubiquitin specific peptidase 47 gene DOID:1059 intellectual disability ISO RGD:1321301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11832156 USP47 ubiquitin specific peptidase 47 gene DOID:630 genetic disease ISO RGD:1321301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832195 MYOC myocilin gene DOID:1067 open-angle glaucoma ISO RGD:737429 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Open-angle glaucoma PMID:25741868|PMID:28492532 11832195 MYOC myocilin gene DOID:1068 juvenile glaucoma ISO RGD:737429 D RGD:7240710 20180130 OMIM 11832195 MYOC myocilin gene DOID:1068 juvenile glaucoma ISO RGD:737429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glaucoma 1, open angle, A | ClinVar Annotator: match by term: Glaucoma of childhood | ClinVar Annotator: match by term: MYOC-Related Disorders PMID:10196380|PMID:10330365|PMID:10545602|PMID:10644174|PMID:10798654|PMID:10815160|PMID:10819638|PMID:10873982|PMID:10980537|PMID:11004290|PMID:11133859|PMID:11152659|PMID:11281418|PMID:11292420|PMID:11298682|PMID:11535458|PMID:11604506|PMID:11774072|PMID:11803488|PMID:11815346|PMID:12189160|PMID:12356829|PMID:12447164|PMID:12522550|PMID:12868033|PMID:12872267|PMID:14193667|PMID:14627955|PMID:14688426|PMID:14767915|PMID:15025728|PMID:15069026|PMID:15723004|PMID:15733270|PMID:15790895|PMID:15851979|PMID:16148883|PMID:16288197|PMID:16297911|PMID:16401791|PMID:16466712|PMID:16636654|PMID:17210859|PMID:17438518|PMID:17499207|PMID:17562996|PMID:17563717|PMID:17615537|PMID:17867509|PMID:17893664|PMID:18728751|PMID:18776955|PMID:19023451|PMID:19145250|PMID:19234343|PMID:20021252|PMID:21552496|PMID:21612213|PMID:21850185|PMID:22194650|PMID:22736945|PMID:22933836|PMID:23029558|PMID:23304066|PMID:23922489|PMID:24033266|PMID:24732711|PMID:24825108|PMID:25741868|PMID:25777973|PMID:26396484|PMID:26633542|PMID:27092720|PMID:27485216|PMID:28492532|PMID:30484747|PMID:35196929|PMID:3756132|PMID:6770678|PMID:8513321|PMID:9005853|PMID:9328473|PMID:9345106|PMID:9361308|PMID:9510647|PMID:9535666|PMID:9556305|PMID:9639450|PMID:9697688|PMID:9754180|PMID:9804137 11832195 MYOC myocilin gene DOID:1068 juvenile glaucoma susceptibility ISO RGD:737429 D RGD:9068941 20200609 RGD DNA:nonsense mutation, missense mutation, snps:exon, intron, 3' utr:multiple (human) PMID:17893664|REF_RGD_ID:7401192 11832195 MYOC myocilin gene DOID:1070 primary open angle glaucoma ISO RGD:737429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:10815160|PMID:11004290|PMID:11292420|PMID:11535458|PMID:11803488|PMID:11815346|PMID:12189160|PMID:12522550|PMID:12872267|PMID:17562996|PMID:17615537|PMID:19023451|PMID:20021252|PMID:22933836|PMID:23029558|PMID:23304066|PMID:24732711|PMID:25741868|PMID:26396484|PMID:28492532|PMID:9005853|PMID:9639450 11832195 MYOC myocilin gene DOID:1070 primary open angle glaucoma no_association ISO RGD:737429 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-1000C>G (human) PMID:12215093|REF_RGD_ID:7401240 11832195 MYOC myocilin gene DOID:1070 primary open angle glaucoma severity ISO RGD:737429 D RGD:9068941 20200609 RGD DNA:snp:cds:pT377M (human) PMID:16431959|REF_RGD_ID:7401245 11832195 MYOC myocilin gene DOID:1070 primary open angle glaucoma severity ISO RGD:737429 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-1000C>G (human) PMID:11595024|REF_RGD_ID:1600842 11832195 MYOC myocilin gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:737429 D RGD:9068941 20200609 RGD DNA:snp:cds:p.G367R (human) PMID:21655360|REF_RGD_ID:7401170 11832195 MYOC myocilin gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:737429 D RGD:9068941 20200609 RGD DNA:snps, deletion:cds:p.G326S, p.T286R, p.Y453MfsX11 (human) PMID:22879734|REF_RGD_ID:7401168 11832195 MYOC myocilin gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:737429 D RGD:9068941 20200609 RGD DNA:snps:cds:multiple (human) PMID:12189160|REF_RGD_ID:7401189 11832195 MYOC myocilin gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:737429 D RGD:9068941 20200609 RGD DNA:snps:cds:p.G12R, p.V53A, p.T353I (human) PMID:19145250|REF_RGD_ID:7401163 11832195 MYOC myocilin gene DOID:11211 buphthalmos ISO RGD:737429 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glaucoma 3, primary congenital, a, digenic PMID:12447164|PMID:15025728|PMID:15723004|PMID:15733270|PMID:16288197|PMID:16466712|PMID:17563717|PMID:22194650|PMID:22736945|PMID:25741868|PMID:28492532|PMID:35196929 11832195 MYOC myocilin gene DOID:13544 low tension glaucoma susceptibility ISO RGD:737429 D RGD:9068941 20200609 RGD DNA:Haplotype: : PMID:16148883|REF_RGD_ID:7771548 11832195 MYOC myocilin gene DOID:1540 parathyroid carcinoma ISO RGD:737429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11832195 MYOC myocilin gene DOID:1686 glaucoma ISO RGD:737429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma PMID:10196380|PMID:10330365|PMID:10545602|PMID:10798654|PMID:10980537|PMID:11004290|PMID:11133859|PMID:11152659|PMID:11281418|PMID:11298682|PMID:11803488|PMID:12189160|PMID:12356829|PMID:12442283|PMID:12872267|PMID:14688426|PMID:14764620|PMID:14767915|PMID:15790895|PMID:16148883|PMID:16466712|PMID:16636654|PMID:17438518|PMID:17893664|PMID:18776955|PMID:19145250|PMID:21552496|PMID:21850185|PMID:22736945|PMID:22933836|PMID:23029558|PMID:23922489|PMID:24033266|PMID:25741868|PMID:27485216|PMID:28492532|PMID:35196929|PMID:9535666|PMID:9772276|PMID:9804137 11832195 MYOC myocilin gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:620430 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus (rat) PMID:15610237|REF_RGD_ID:7401266 11832195 MYOC myocilin gene DOID:6000 congestive heart failure ISO RGD:737429 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 11832195 MYOC myocilin gene DOID:627 severe combined immunodeficiency ISO RGD:737429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:10815160|PMID:11004290|PMID:11292420|PMID:11535458|PMID:11803488|PMID:11815346|PMID:12189160|PMID:12522550|PMID:12872267|PMID:17562996|PMID:17615537|PMID:19023451|PMID:20021252|PMID:22933836|PMID:23029558|PMID:23304066|PMID:24732711|PMID:25741868|PMID:26396484|PMID:28492532|PMID:9005853|PMID:9639450 11832195 MYOC myocilin gene DOID:630 genetic disease ISO RGD:737429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11832195 MYOC myocilin gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:737429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 11832195 MYOC myocilin gene DOID:9000998 Brain Injuries ISO RGD:620430 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex (rat) PMID:12799138|REF_RGD_ID:7401267 11832195 MYOC myocilin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737429 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11832195 MYOC myocilin gene DOID:9007708 Glaucoma 1, Open Angle, E ISO RGD:737429 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Glaucoma 1, open angle, E PMID:10196380|PMID:10545602|PMID:10798654|PMID:10980537|PMID:11004290|PMID:11298682|PMID:11604506|PMID:11774072|PMID:12189160|PMID:12356829|PMID:12872267|PMID:14688426|PMID:15851979|PMID:16466712|PMID:16636654|PMID:17438518|PMID:17615537|PMID:18776955|PMID:19145250|PMID:21552496|PMID:21612213|PMID:21850185|PMID:22933836|PMID:25741868|PMID:28492532|PMID:35196929|PMID:9535666|PMID:9804137 11832195 MYOC myocilin gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:737429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 11832195 MYOC myocilin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11832195 MYOC myocilin gene DOID:9282 ocular hypertension ISO RGD:620430 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (rat) PMID:17102796|REF_RGD_ID:1601004 11832195 MYOC myocilin gene DOID:9282 ocular hypertension ISO RGD:734341 D RGD:9068941 20200609 RGD mRNA:decreased expression:eye, trabecular mesh (mouse) PMID:23322580|REF_RGD_ID:7394804 11832195 MYOC myocilin gene DOID:9282 ocular hypertension ISO RGD:737429 D RGD:9068941 20200609 RGD associated with Glaucoma, Primary Open Angle; DNA:snp:cds:p.T377M (human) PMID:20107173|REF_RGD_ID:7394831 11832195 MYOC myocilin gene DOID:9282 ocular hypertension treatment ISO RGD:734341 D RGD:9068941 20200609 RGD PMID:23322580|REF_RGD_ID:7394804 11832248 UBL4B ubiquitin like 4B gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1602973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 11832248 UBL4B ubiquitin like 4B gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1602973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11832248 UBL4B ubiquitin like 4B gene DOID:12849 autistic disorder ISO RGD:1602973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11832248 UBL4B ubiquitin like 4B gene DOID:630 genetic disease ISO RGD:1602973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832254 LOC100969372 chymotrypsin like elastase 3A gene DOID:0060369 Parkinson's disease 6 ISO RGD:1346009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11832254 LOC100969372 chymotrypsin like elastase 3A gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1346009 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11832254 LOC100969372 chymotrypsin like elastase 3A gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1346009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11832254 LOC100969372 chymotrypsin like elastase 3A gene DOID:630 genetic disease ISO RGD:1346009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832254 LOC100969372 chymotrypsin like elastase 3A gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1346009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11832264 TCL1A TCL1 family AKT coactivator A gene DOID:0080600 COVID-19 ISO RGD:1318064 D RGD:9068941 20200709 RGD mRNA:decreased expression:memory B cells (human) PMID:32377375|REF_RGD_ID:32716422 11832264 TCL1A TCL1 family AKT coactivator A gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1318064 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 11832264 TCL1A TCL1 family AKT coactivator A gene DOID:2224 essential thrombocythemia ISO RGD:1318064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 11832264 TCL1A TCL1 family AKT coactivator A gene DOID:4971 myelofibrosis ISO RGD:1318064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis 11832264 TCL1A TCL1 family AKT coactivator A gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1318064 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood lymphocyte (human) PMID:10077617|REF_RGD_ID:1599360 11832264 TCL1A TCL1 family AKT coactivator A gene DOID:630 genetic disease ISO RGD:1318064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832264 TCL1A TCL1 family AKT coactivator A gene DOID:9004189 T-Cell Lymphoma 1A ISO RGD:1318064 D RGD:7240710 20221123 OMIM 11832264 TCL1A TCL1 family AKT coactivator A gene DOID:9119 acute myeloid leukemia ISO RGD:1318064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26457647 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413734|PMID:24413737 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:0050908 myelodysplastic syndrome ISO RGD:1606038 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:21067377|PMID:21518476|PMID:22160010|PMID:22722925|PMID:22744846|PMID:22898539|PMID:22898541|PMID:24606448|PMID:24622842|PMID:24656771|PMID:25741868|PMID:26619011|PMID:26822784|PMID:26876596|PMID:27317772|PMID:27991732|PMID:28166811|PMID:28432085|PMID:28492532|PMID:28941052|PMID:29900417|PMID:30185810|PMID:30478443|PMID:31582562|PMID:31620784|PMID:31640986|PMID:31961069|PMID:32123902|PMID:32385248|PMID:34788385 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:1606038 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.R882 (human) PMID:22066015|REF_RGD_ID:11041124 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:1606038 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:21415852|REF_RGD_ID:11041122 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:0060041 autism spectrum disorder ISO RGD:1606038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:0070004 myeloid neoplasm ISO RGD:1606038 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myeloproliferative disorder PMID:25363760|PMID:25741868|PMID:29900417|PMID:30478443|PMID:32581362|PMID:33238114|PMID:34315901 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1606038 D RGD:7240710 20180130 OMIM 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1606038 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:11836534|PMID:15456878|PMID:16199547|PMID:17576681|PMID:21067377|PMID:21518476|PMID:22160010|PMID:22722925|PMID:22744846|PMID:22898539|PMID:24606448|PMID:24614070|PMID:24622842|PMID:24656771|PMID:24728327|PMID:25363760|PMID:25741868|PMID:26619011|PMID:26822784|PMID:26866722|PMID:26876596|PMID:26912663|PMID:27317772|PMID:27701732|PMID:27991732|PMID:28166811|PMID:28432085|PMID:28475857|PMID:28492532|PMID:28941052|PMID:29740169|PMID:29900417|PMID:30185810|PMID:30478443|PMID:31582562|PMID:31620784|PMID:31640986|PMID:31961069|PMID:32123902|PMID:32385248|PMID:32435502|PMID:32581362|PMID:32860008|PMID:33182397|PMID:33238114|PMID:34315901|PMID:34788385|PMID:9536098 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:10534 stomach cancer susceptibility ISO RGD:1606038 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-488A>G(rs36012910)(human) PMID:20128888|REF_RGD_ID:9589068 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:1059 intellectual disability ISO RGD:1606038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:10907 microcephaly ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30478443 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:11446 sciatic neuropathy ISO RGD:1620920 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:22031875|REF_RGD_ID:9589072 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:1324 lung cancer disease_progression ISO RGD:1606038 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:24548441|REF_RGD_ID:9588658 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:14654 prostatitis ISO RGD:1303336 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:prostate gland ventral lobe: PMID:20056826|REF_RGD_ID:9588290 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:1682 congenital heart disease ISO RGD:1303336 D RGD:9068941 20200609 RGD associated with Vitamin A Deficiency; mRNA:decreased expression:heart: PMID:23333085|REF_RGD_ID:9588314 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:1909 melanoma ISO RGD:1606038 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Melanoma PMID:24614070|PMID:28475857|PMID:28492532|PMID:29900417 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:2526 prostate adenocarcinoma ISO RGD:1620920 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland: PMID:17178860|REF_RGD_ID:2289681 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:288 endometriosis of uterus ISO RGD:1606038 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium: PMID:22572543|REF_RGD_ID:9588664 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:289 endometriosis ISO RGD:1606038 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium: PMID:17081533|REF_RGD_ID:9588669 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:3068 glioblastoma ISO RGD:1606038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1620920 D RGD:9068941 20200609 RGD protein:decreased expression:mitochondrion: PMID:24399935|REF_RGD_ID:9589066 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:3525 middle cerebral artery infarction ISO RGD:1303336 D RGD:9068941 20200609 RGD PMID:23516428|REF_RGD_ID:9589049 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:3905 lung carcinoma disease_progression ISO RGD:1303336 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:21163286|REF_RGD_ID:9588222 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:3910 lung adenocarcinoma ISO RGD:1606038 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:21067377|PMID:21518476|PMID:22160010|PMID:22722925|PMID:22744846|PMID:22898539|PMID:22898541|PMID:24606448|PMID:24622842|PMID:24656771|PMID:25741868|PMID:26619011|PMID:26822784|PMID:26876596|PMID:27317772|PMID:27991732|PMID:28166811|PMID:28432085|PMID:28492532|PMID:28941052|PMID:29900417|PMID:30185810|PMID:30478443|PMID:31582562|PMID:31620784|PMID:31640986|PMID:31961069|PMID:32123902|PMID:32385248|PMID:34788385 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27292127 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:4961 bone marrow disease ISO RGD:1620920 D RGD:9068941 20200609 RGD PMID:25416277|REF_RGD_ID:11041127 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1606038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:5603 T-cell acute lymphoblastic leukemia disease_progression ISO RGD:1606038 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:23341344|REF_RGD_ID:9589073 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:5603 T-cell acute lymphoblastic leukemia susceptibility ISO RGD:1606038 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:missense mutation:exon:p.R882H(human) PMID:26072070|REF_RGD_ID:11041131 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:630 genetic disease ISO RGD:1606038 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11836534|PMID:15456878|PMID:21067377|PMID:21518476|PMID:22160010|PMID:22722925|PMID:22744846|PMID:22898539|PMID:24606448|PMID:24614070|PMID:24622842|PMID:24656771|PMID:25741868|PMID:26619011|PMID:26822784|PMID:26876596|PMID:26912663|PMID:27317772|PMID:27701732|PMID:27991732|PMID:28166811|PMID:28432085|PMID:28475857|PMID:28492532|PMID:28941052|PMID:29900417|PMID:30185810|PMID:30478443|PMID:31582562|PMID:31620784|PMID:31640986|PMID:31961069|PMID:32123902|PMID:32385248|PMID:34315901|PMID:34788385 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:684 hepatocellular carcinoma ISO RGD:1303336 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:11844796|REF_RGD_ID:2289670 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:684 hepatocellular carcinoma ISO RGD:1606038 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:15885882|REF_RGD_ID:9588598 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:8541 Sezary's disease ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:8552 chronic myeloid leukemia disease_progression ISO RGD:1606038 D RGD:9068941 20200609 RGD PMID:11222358|REF_RGD_ID:9588667 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:8778 Crohn's disease ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:8864 acute monocytic leukemia ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21399634 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1606038 D RGD:9068941 20200609 RGD mRNA:decreased expression:mononuclear cell PMID:18683034|REF_RGD_ID:9588662 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:9001487 Facies ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24614070 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1303336 D RGD:9068941 20200609 RGD protein:decreased expression:brain: PMID:23716065|REF_RGD_ID:9588620 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:9004253 Immunoblastic Lymphadenopathy ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413737 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:21067377|PMID:21518476|PMID:22160010|PMID:22744846|PMID:22898539|PMID:24606448|PMID:25741868|PMID:26619011|PMID:26822784|PMID:27317772|PMID:28432085|PMID:28492532|PMID:28941052|PMID:29900417|PMID:30478443|PMID:31620784|PMID:31961069 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:9005172 Lung Neoplasms ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:9005184 Heyn-Sproul-Jackson Syndrome ISO RGD:1606038 D RGD:7240710 20200226 OMIM 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:9005184 Heyn-Sproul-Jackson Syndrome ISO RGD:1606038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heyn-Sproul-Jackson syndrome PMID:11836534|PMID:15456878|PMID:25741868|PMID:26912663|PMID:28492532|PMID:30478443 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:9005603 Muscle Hypotonia ISO RGD:1606038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:25741868 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:9006257 Growth Disorders ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24614070|PMID:30478443 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:9006534 Nervous System Malformations ISO RGD:1606038 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:21067377|PMID:21518476|PMID:22160010|PMID:22722925|PMID:22744846|PMID:22898539|PMID:24606448|PMID:24622842|PMID:24656771|PMID:25741868|PMID:26619011|PMID:26876596|PMID:27991732|PMID:28166811|PMID:28492532|PMID:28941052|PMID:30185810|PMID:31582562|PMID:31620784|PMID:31640986|PMID:31961069|PMID:32123902|PMID:32385248|PMID:34788385 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:9007661 Dwarfism ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30478443 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:9007702 Carcinogenesis disease_progression ISO RGD:1303336 D RGD:9068941 20200609 RGD PMID:21163286|REF_RGD_ID:9588222 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24614070 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:9008939 Breast Neoplasms ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22520950 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia ISO RGD:1606038 D RGD:7240710 20190315 OMIM 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia ISO RGD:1606038 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:21067377|PMID:21518476|PMID:22160010|PMID:22722925|PMID:22744846|PMID:22898539|PMID:22898540|PMID:22898541|PMID:24606448|PMID:24622842|PMID:24656771|PMID:25741868|PMID:26619011|PMID:26822784|PMID:26876596|PMID:27317772|PMID:27991732|PMID:28166811|PMID:28432085|PMID:28492532|PMID:28941052|PMID:29900417|PMID:30185810|PMID:30478443|PMID:31582562|PMID:31620784|PMID:31640986|PMID:31961069|PMID:32123902|PMID:32385248|PMID:32581362|PMID:34788385 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1606038 D RGD:9068941 20200609 RGD DNA:hypomethylation: : PMID:26242829|REF_RGD_ID:11041121 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1606038 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.R882 (human) PMID:24512939|REF_RGD_ID:11041123 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1606038 D RGD:9068941 20200609 RGD associated with Myelodysplastic Syndromes; DNA:mutations:cds: PMID:21415852|REF_RGD_ID:11041122 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1606038 D RGD:9068941 20200609 RGD DNA:mutation:: PMID:25609058|REF_RGD_ID:11041120 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:9538 multiple myeloma ISO RGD:1606038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:1606038 D RGD:9068941 20200609 RGD DNA:mutations:exon, intron:p.R882(human) PMID:25242092|REF_RGD_ID:11041125 11832280 DNMT3A DNA methyltransferase 3 alpha gene DOID:9970 obesity ISO RGD:1606038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 11832280 Dnmt3a DNA methyltransferase 3A gene DOID:1596 depressive disorder ISO RGD:1620920 D RGD:9068941 20200609 RGD PMID:20729844|REF_RGD_ID:9589061 11832322 LOC100981651 chromosome 15 C15orf54 homolog gene DOID:2717 Bloom syndrome ISO RGD:1601683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11832322 LOC100981651 chromosome 15 C15orf54 homolog gene DOID:9256 colorectal cancer ISO RGD:1601683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11832328 LRR1 leucine rich repeat protein 1 gene DOID:630 genetic disease ISO RGD:1322717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832328 LRR1 leucine rich repeat protein 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1322717 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11832328 LRR1 leucine rich repeat protein 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1322717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11832338 OGT O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11832338 OGT O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:0080240 non-syndromic X-linked intellectual disability 106 ISO RGD:736466 D RGD:7240710 20190315 OMIM 11832338 OGT O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:0080240 non-syndromic X-linked intellectual disability 106 ISO RGD:736466 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 106 | ClinVar Annotator: match by term: Mental retardation, X-linked 106 PMID:12724313|PMID:18818698|PMID:21240259|PMID:24033266|PMID:25679214|PMID:25741868|PMID:26273451|PMID:27056667|PMID:28302723|PMID:28492532|PMID:28584052|PMID:29769320|PMID:31627256|PMID:9083067 11832338 OGT O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:12849 autistic disorder ISO RGD:736466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11832338 OGT O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:1712 aortic valve stenosis ISO RGD:736466 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle (human) PMID:22128088|REF_RGD_ID:9590202 11832338 OGT O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:6000 congestive heart failure ISO RGD:62060 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle (rat) PMID:22128088|REF_RGD_ID:9590202 11832338 OGT O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:630 genetic disease ISO RGD:736466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12724313|PMID:21240259|PMID:25741868|PMID:28492532|PMID:29769320|PMID:9083067 11832338 OGT O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:9003936 Cardiomegaly ISO RGD:62060 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle (rat) PMID:22128088|REF_RGD_ID:9590202 11832338 OGT O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:62060 D RGD:9068941 20200609 RGD PMID:15561949|REF_RGD_ID:9590198 11832338 OGT O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:9008939 Breast Neoplasms severity ISO RGD:62352 D RGD:9068941 20200609 RGD PMID:24214978|REF_RGD_ID:9590192 11832370 LOC100989837 protein FAM25A gene DOID:5419 schizophrenia ISO RGD:1349843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11832371 RBP4 retinol binding protein 4 gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:735251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:24206907|PMID:28492532 11832371 RBP4 retinol binding protein 4 gene DOID:11267 keratomalacia ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9888420 11832371 RBP4 retinol binding protein 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17456573 11832371 RBP4 retinol binding protein 4 gene DOID:12270 coloboma ISO RGD:735251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:29178648 11832371 RBP4 retinol binding protein 4 gene DOID:305 carcinoma ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11832371 RBP4 retinol binding protein 4 gene DOID:557 kidney disease ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22061828 11832371 RBP4 retinol binding protein 4 gene DOID:6000 congestive heart failure ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 11832371 RBP4 retinol binding protein 4 gene DOID:630 genetic disease ISO RGD:735251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25910211|PMID:28492532 11832371 RBP4 retinol binding protein 4 gene DOID:9000217 Stomach Neoplasms ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11832371 RBP4 retinol binding protein 4 gene DOID:9000343 Vision Disorders ISO RGD:735251 D RGD:9068941 20200609 RGD retinol-binding protein deficiency;DNA:point mutation:exon:p.I41N, p.G75D (human) PMID:9888420|REF_RGD_ID:1601613 11832371 RBP4 retinol binding protein 4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11832371 RBP4 retinol binding protein 4 gene DOID:9000743 Isolated Microphthalmia with Coloboma 10 ISO RGD:735251 D RGD:7240710 20180130 OMIM 11832371 RBP4 retinol binding protein 4 gene DOID:9000743 Isolated Microphthalmia with Coloboma 10 ISO RGD:735251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 10 PMID:25741868|PMID:25910211 11832371 RBP4 retinol binding protein 4 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762690 11832371 RBP4 retinol binding protein 4 gene DOID:9002470 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome ISO RGD:735251 D RGD:7240710 20180130 OMIM 11832371 RBP4 retinol binding protein 4 gene DOID:9002470 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome ISO RGD:735251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy, iris coloboma, and comedogenic acne syndrome PMID:10232633|PMID:16157297|PMID:23189188|PMID:25741868|PMID:25910211|PMID:28492532|PMID:9888420 11832371 RBP4 retinol binding protein 4 gene DOID:9003281 Spontaneous Abortions ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11832371 RBP4 retinol binding protein 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3546 D RGD:9068941 20220324 RGD mRNA:increased expression:mammary gland (rat) PMID:16316942|REF_RGD_ID:2306898 11832371 RBP4 retinol binding protein 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11832371 RBP4 retinol binding protein 4 gene DOID:9005749 Necrosis ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22061828 11832371 RBP4 retinol binding protein 4 gene DOID:9008296 Eye Abnormalities ISO RGD:735251 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:28041643 11832371 RBP4 retinol binding protein 4 gene DOID:9008550 Vitamin A Deficiency ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16157297 11832371 RBP4 retinol binding protein 4 gene DOID:9008939 Breast Neoplasms ISO RGD:735251 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35191604 11832371 RBP4 retinol binding protein 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3546 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19080170|REF_RGD_ID:2311652 11832371 RBP4 retinol binding protein 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735251 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19506831|REF_RGD_ID:2311651 11832371 RBP4 retinol binding protein 4 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:735251 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:17174134|REF_RGD_ID:1601615 11832371 RBP4 retinol binding protein 4 gene DOID:9970 obesity ISO RGD:3546 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:adipose tissue, serum PMID:18401839|REF_RGD_ID:2302016 11832408 MTMR1 myotubularin related protein 1 gene DOID:0050760 X-linked myopathy with excessive autophagy ISO RGD:1315259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 11832408 MTMR1 myotubularin related protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1315259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11832408 MTMR1 myotubularin related protein 1 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:1315259 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 11832408 MTMR1 myotubularin related protein 1 gene DOID:12849 autistic disorder ISO RGD:1315259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11832408 MTMR1 myotubularin related protein 1 gene DOID:630 genetic disease ISO RGD:1315259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832431 ARMC7 armadillo repeat containing 7 gene DOID:630 genetic disease ISO RGD:1347915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832444 IFNA6 interferon alpha 6 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1350617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 11832444 IFNA6 interferon alpha 6 gene DOID:11168 anogenital venereal wart treatment ISO RGD:1350617 D RGD:9068941 20200730 RGD PMID:25774455|REF_RGD_ID:36174028 11832444 IFNA6 interferon alpha 6 gene DOID:5419 schizophrenia ISO RGD:1350617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11832444 IFNA6 interferon alpha 6 gene DOID:630 genetic disease ISO RGD:1350617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832447 CD14 CD14 molecule gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1347263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11832447 CD14 CD14 molecule gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1347263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20353583 11832447 CD14 CD14 molecule gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347263 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11832447 CD14 CD14 molecule gene DOID:0080642 Middle East respiratory syndrome ISO RGD:733890 D RGD:9068941 20200619 RGD mRNA:increased expression:lung PMID:31838832|REF_RGD_ID:30309204 11832447 CD14 CD14 molecule gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1347263 D RGD:9068941 20200609 RGD PMID:20555320|REF_RGD_ID:7204130 11832447 CD14 CD14 molecule gene DOID:0110861 autosomal recessive polycystic kidney disease severity ISO RGD:733890 D RGD:9068941 20200609 RGD PMID:20555320|REF_RGD_ID:7204130 11832447 CD14 CD14 molecule gene DOID:10487 Hirschsprung's disease ISO RGD:620588 D RGD:9068941 20200609 RGD protein:increased expression:intestine: PMID:15117676|REF_RGD_ID:7193054 11832447 CD14 CD14 molecule gene DOID:10608 celiac disease ISO RGD:1347263 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:SNP:promoter: PMID:18728522|REF_RGD_ID:2314152 11832447 CD14 CD14 molecule gene DOID:10763 hypertension ISO RGD:1347263 D RGD:9068941 20200609 RGD associated with Glomerulonephritis, IGA; DNA:polymorphism: :-159C>T (human) PMID:22072187|REF_RGD_ID:7204129 11832447 CD14 CD14 molecule gene DOID:11335 sarcoidosis ISO RGD:1347263 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20430603|REF_RGD_ID:4144780 11832447 CD14 CD14 molecule gene DOID:11335 sarcoidosis susceptibility ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c. -159C>T (human) PMID:20430603|REF_RGD_ID:4144780 11832447 CD14 CD14 molecule gene DOID:1205 allergic disease resistance ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c. -159C>T (human) PMID:19222419|REF_RGD_ID:4144798 11832447 CD14 CD14 molecule gene DOID:13189 gout ISO RGD:1347263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26462562 11832447 CD14 CD14 molecule gene DOID:13250 diarrhea ISO RGD:1347263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21596674 11832447 CD14 CD14 molecule gene DOID:13580 cholestasis ISO RGD:620588 D RGD:9068941 20200609 RGD PMID:22511970|REF_RGD_ID:7183752 11832447 CD14 CD14 molecule gene DOID:13603 obstructive jaundice ISO RGD:620588 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum, liver, lung, spleen PMID:25093541|REF_RGD_ID:9685190 11832447 CD14 CD14 molecule gene DOID:13608 biliary atresia disease_progression ISO RGD:1347263 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, plasma: PMID:21172039|REF_RGD_ID:7184431 11832447 CD14 CD14 molecule gene DOID:1485 cystic fibrosis ISO RGD:1347263 D RGD:9068941 20200609 RGD protein:increased expression:Macrophages, Alveolar PMID:20302606|REF_RGD_ID:4144794 11832447 CD14 CD14 molecule gene DOID:1485 cystic fibrosis susceptibility ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c. -159 C>T PMID:19466271|REF_RGD_ID:4144796 11832447 CD14 CD14 molecule gene DOID:2841 asthma ISO RGD:1347263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17607003 11832447 CD14 CD14 molecule gene DOID:2841 asthma ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:19096003|REF_RGD_ID:4144228 11832447 CD14 CD14 molecule gene DOID:2841 asthma ISO RGD:1347263 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16387800|REF_RGD_ID:4144813 11832447 CD14 CD14 molecule gene DOID:2841 asthma no_association ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c. -159C>T (human) PMID:15741437|REF_RGD_ID:4144815 11832447 CD14 CD14 molecule gene DOID:2841 asthma severity ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c. -260C>T (human) PMID:15940135|REF_RGD_ID:4144814 11832447 CD14 CD14 molecule gene DOID:2841 asthma severity ISO RGD:1347263 D RGD:9068941 20200609 RGD protein:increased expression:serum|DNA:polymorphism:promoter:c. -159C>T (human) PMID:16387800|REF_RGD_ID:4144813 11832447 CD14 CD14 molecule gene DOID:2841 asthma susceptibility ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c. -159C>T (human) PMID:18312481|REF_RGD_ID:4144208 11832447 CD14 CD14 molecule gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1347263 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 11832447 CD14 CD14 molecule gene DOID:2957 pulmonary tuberculosis ISO RGD:1347263 D RGD:9068941 20200609 RGD protein:increased expression:monocyte, serum PMID:18008256|REF_RGD_ID:4144205 11832447 CD14 CD14 molecule gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c. -159C>T (human) PMID:18008256|REF_RGD_ID:4144205 11832447 CD14 CD14 molecule gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c. -159C>T (human) PMID:12566518|REF_RGD_ID:7204499 11832447 CD14 CD14 molecule gene DOID:3393 coronary artery disease no_association ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:SNP:promoter PMID:18157711|REF_RGD_ID:2314154 11832447 CD14 CD14 molecule gene DOID:3407 carotid artery disease ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:SNP:promotor PMID:16873708|REF_RGD_ID:2314156 11832447 CD14 CD14 molecule gene DOID:3407 carotid artery disease susceptibility ISO RGD:1347263 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic; DNA:polymorphism:promoter:c. -159C>T (human) PMID:15640605|REF_RGD_ID:7204441 11832447 CD14 CD14 molecule gene DOID:4483 rhinitis resistance ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c. -159c>T (human) PMID:16950285|REF_RGD_ID:4144810 11832447 CD14 CD14 molecule gene DOID:4483 rhinitis susceptibility ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c. -159c>T (human) PMID:20109306|REF_RGD_ID:4144795 11832447 CD14 CD14 molecule gene DOID:4989 pancreatitis ISO RGD:733890 D RGD:9068941 20200609 RGD PMID:19201771|REF_RGD_ID:4144143 11832447 CD14 CD14 molecule gene DOID:5082 liver cirrhosis ISO RGD:1347263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20353583 11832447 CD14 CD14 molecule gene DOID:5199 ureteral obstruction ISO RGD:733890 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney PMID:10966493|REF_RGD_ID:7204444 11832447 CD14 CD14 molecule gene DOID:552 pneumonia ISO RGD:1347263 D RGD:9068941 20200609 RGD protein:increased expression:multiple PMID:20302606|REF_RGD_ID:4144794 11832447 CD14 CD14 molecule gene DOID:5844 myocardial infarction ISO RGD:1347263 D RGD:9068941 20200609 RGD PMID:10195920|PMID:14587643|REF_RGD_ID:1580252|REF_RGD_ID:1580255 11832447 CD14 CD14 molecule gene DOID:5844 myocardial infarction no_association ISO RGD:1347263 D RGD:9068941 20200609 RGD associated with Coronary Artery Disease;DNA:SNP:promoter PMID:17436151|REF_RGD_ID:2314155 11832447 CD14 CD14 molecule gene DOID:630 genetic disease ISO RGD:1347263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832447 CD14 CD14 molecule gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1347263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11832447 CD14 CD14 molecule gene DOID:824 periodontitis ISO RGD:620588 D RGD:9068941 20200609 RGD protein:increased expression:monocyte, neutrophil: PMID:17565820|REF_RGD_ID:7191232 11832447 CD14 CD14 molecule gene DOID:850 lung disease ISO RGD:733890 D RGD:9068941 20200609 RGD acute lung injury PMID:15731076|REF_RGD_ID:4144789 11832447 CD14 CD14 molecule gene DOID:850 lung disease ISO RGD:733890 D RGD:9068941 20200609 RGD lung injury associated with Kidney Failure, Acute; mRNA:increased expression:lung PMID:18235097|REF_RGD_ID:4144782 11832447 CD14 CD14 molecule gene DOID:850 lung disease ISO RGD:733890 D RGD:9068941 20200609 RGD lung injury associated with pancreatitis PMID:19201771|REF_RGD_ID:4144143 11832447 CD14 CD14 molecule gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1347263 D RGD:9068941 20200609 RGD protein:increased expression:small intestine PMID:19824106|REF_RGD_ID:4144091 11832447 CD14 CD14 molecule gene DOID:8677 perinatal necrotizing enterocolitis disease_progression ISO RGD:620588 D RGD:9068941 20200609 RGD PMID:19824106|REF_RGD_ID:4144091 11832447 CD14 CD14 molecule gene DOID:874 bacterial pneumonia ISO RGD:733890 D RGD:9068941 20200609 RGD PMID:16210672|REF_RGD_ID:4144197 11832447 CD14 CD14 molecule gene DOID:898 autosomal dominant polycystic kidney disease disease_progression ISO RGD:1347263 D RGD:9068941 20200609 RGD protein:altered localization:kidney,urine PMID:20555320|REF_RGD_ID:7204130 11832447 CD14 CD14 molecule gene DOID:9000528 Coronary Disease ISO RGD:1347263 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:10831941|REF_RGD_ID:2314175 11832447 CD14 CD14 molecule gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1347263 D RGD:9068941 20200609 RGD associated with asthma; DNA:polymorphism:promoter:c. -159C>T (human) PMID:17196641|REF_RGD_ID:4144784 11832447 CD14 CD14 molecule gene DOID:9000998 Brain Injuries ISO RGD:1347263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 11832447 CD14 CD14 molecule gene DOID:9001488 Human Influenza ISO RGD:733890 D RGD:9068941 20200609 RGD PMID:17825924|REF_RGD_ID:4144809 11832447 CD14 CD14 molecule gene DOID:9001981 Weight Loss ISO RGD:1347263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28411859 11832447 CD14 CD14 molecule gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:733890 D RGD:9068941 20200609 RGD PMID:17185649|REF_RGD_ID:4144788 11832447 CD14 CD14 molecule gene DOID:9002159 Liver Reperfusion Injury ISO RGD:620588 D RGD:9068941 20200609 RGD PMID:22564590|REF_RGD_ID:7183676 11832447 CD14 CD14 molecule gene DOID:9002676 Cerebral Hemorrhage ISO RGD:620588 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, intestine: PMID:19534684|REF_RGD_ID:7185660 11832447 CD14 CD14 molecule gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11832447 CD14 CD14 molecule gene DOID:9004590 Acute Liver Failure ISO RGD:620588 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:18070011|REF_RGD_ID:4144156 11832447 CD14 CD14 molecule gene DOID:9005930 Endotoxemia ISO RGD:620588 D RGD:9068941 20200609 RGD protein:increased expression:liver, endothelial cell of sinusoid PMID:12046090|REF_RGD_ID:724637 11832447 CD14 CD14 molecule gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:733890 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney PMID:10966493|REF_RGD_ID:7204444 11832447 CD14 CD14 molecule gene DOID:9006647 Experimental Autoimmune Neuritis severity ISO RGD:620588 D RGD:9068941 20200609 RGD PMID:19162137|REF_RGD_ID:2312712 11832447 CD14 CD14 molecule gene DOID:9006928 Viral Bronchiolitis ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c.-550C>T (human) PMID:17471431|REF_RGD_ID:4144210 11832447 CD14 CD14 molecule gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347263 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11832447 CD14 CD14 molecule gene DOID:9007356 Eczema ISO RGD:1347263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19759553 11832447 CD14 CD14 molecule gene DOID:9007730 Burns ISO RGD:620588 D RGD:9068941 20200609 RGD PMID:12435950|REF_RGD_ID:2313390 11832447 CD14 CD14 molecule gene DOID:9007730 Burns ISO RGD:620588 D RGD:9068941 20200609 RGD mRNA:increased expression:multiple organs: PMID:11829837|REF_RGD_ID:7204443 11832447 CD14 CD14 molecule gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:620588 D RGD:9068941 20200609 RGD protein:increased expression:heart, kidney, liver, lung PMID:22493902|REF_RGD_ID:9685194 11832447 CD14 CD14 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:1347263 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:10831941|REF_RGD_ID:2314175 11832447 CD14 CD14 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:733890 D RGD:9068941 20200609 RGD PMID:14614560|REF_RGD_ID:2314173 11832453 KLHL5 kelch like family member 5 gene DOID:630 genetic disease ISO RGD:1320120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832453 KLHL5 kelch like family member 5 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1320120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 11832453 KLHL5 kelch like family member 5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1320120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 11832473 MYL2 myosin light chain 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:737270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:23861362|PMID:25741868|PMID:28492532|PMID:28611029 11832473 MYL2 myosin light chain 2 gene DOID:0050700 cardiomyopathy ISO RGD:737270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16751284|PMID:16837010|PMID:17576681|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21823217|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26497160|PMID:26656175|PMID:26664906|PMID:26914223|PMID:26936621|PMID:27153395|PMID:27378946|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28166811|PMID:28223422|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28611029|PMID:28771489|PMID:28798025|PMID:29099038|PMID:29398688|PMID:29452157|PMID:29710196|PMID:29988065|PMID:30297972|PMID:30403391|PMID:30430732|PMID:31019283|PMID:31127036|PMID:32453731|PMID:33731536|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982|PMID:9724616 11832473 MYL2 myosin light chain 2 gene DOID:0050700 cardiomyopathy ISO RGD:737270 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16751284|PMID:16837010|PMID:17576681|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21823217|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26497160|PMID:26664906|PMID:26914223|PMID:26936621|PMID:27153395|PMID:27378946|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28166811|PMID:28223422|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28611029|PMID:28771489|PMID:28798025|PMID:29099038|PMID:29398688|PMID:29447731|PMID:29452157|PMID:29710196|PMID:29988065|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30430732|PMID:30847666|PMID:31019283|PMID:31127036|PMID:31513939|PMID:31737537|PMID:31980526|PMID:32453731|PMID:32665702|PMID:32880476|PMID:33087929|PMID:33548158|PMID:33673806|PMID:33731536|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982|PMID:9724616 11832473 MYL2 myosin light chain 2 gene DOID:0050700 cardiomyopathy ISO RGD:737270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16751284|PMID:16837010|PMID:17576681|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21823217|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26497160|PMID:26656175|PMID:26664906|PMID:26906074|PMID:26914223|PMID:26936621|PMID:27153395|PMID:27378946|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28223422|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28611029|PMID:28640247|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28855170|PMID:28991257|PMID:29099038|PMID:29253866|PMID:29398688|PMID:29447731|PMID:29452157|PMID:29710196|PMID:29988065|PMID:30291343|PMID:30297972|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30588760|PMID:30706179|PMID:30775854|PMID:30796699|PMID:30847666|PMID:31019283|PMID:31104103|PMID:31127036|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31771554|PMID:31847883|PMID:31980526|PMID:32453731|PMID:32600061|PMID:32665702|PMID:32746448|PMID:32880476|PMID:33087929|PMID:33190526|PMID:33337957|PMID:33548158|PMID:33558530|PMID:33662488|PMID:33673806|PMID:33731536|PMID:34935411|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982|PMID:9724616 11832473 MYL2 myosin light chain 2 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:737270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:25741868|PMID:28855170|PMID:32453731|PMID:32600061|PMID:33731536 11832473 MYL2 myosin light chain 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:08673105|PMID:09535554|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16837010|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21835320|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26664906|PMID:26906074|PMID:26914223|PMID:27153395|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28223422|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28750076|PMID:28771489|PMID:29253866|PMID:29398688|PMID:29452157|PMID:29710196|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30706179|PMID:30775854|PMID:30796699|PMID:31019283|PMID:31104103|PMID:31323898|PMID:31771554|PMID:31847883|PMID:32746448|PMID:33190526|PMID:33337957|PMID:33558530|PMID:34935411|PMID:8673105|PMID:9535554 11832473 MYL2 myosin light chain 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:08673105|PMID:09535554|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16837010|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21835320|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25324513|PMID:25333069|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26664906|PMID:26914223|PMID:27153395|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28166811|PMID:28223422|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28771489|PMID:29398688|PMID:29452157|PMID:29710196|PMID:30403391|PMID:30430732|PMID:31019283|PMID:8673105|PMID:9535554 11832473 MYL2 myosin light chain 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:08673105|PMID:09535554|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16837010|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21835320|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26664906|PMID:26906074|PMID:26914223|PMID:27153395|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28223422|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28750076|PMID:28771489|PMID:29253866|PMID:29398688|PMID:29452157|PMID:29710196|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30706179|PMID:30775854|PMID:30796699|PMID:31019283|PMID:31104103|PMID:31323898|PMID:31771554|PMID:31847883|PMID:32746448|PMID:33190526|PMID:33337957|PMID:33558530|PMID:34935411|PMID:8673105|PMID:9535554 11832473 MYL2 myosin light chain 2 gene DOID:0110316 hypertrophic cardiomyopathy 10 ISO RGD:737270 D RGD:7240710 20180130 OMIM 11832473 MYL2 myosin light chain 2 gene DOID:0110316 hypertrophic cardiomyopathy 10 ISO RGD:737270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 2 | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 10 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 10 PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16751284|PMID:16837010|PMID:17576681|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:18987303|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21520333|PMID:21723297|PMID:21823217|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23549607|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24374283|PMID:24793961|PMID:24842367|PMID:24992035|PMID:25031304|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25770245|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26385864|PMID:26497160|PMID:26656175|PMID:26664906|PMID:26906074|PMID:26914223|PMID:26936621|PMID:27153395|PMID:27378946|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28223422|PMID:28323875|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28611029|PMID:28640247|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28855170|PMID:28991257|PMID:29099038|PMID:29247119|PMID:29253866|PMID:29398688|PMID:29447731|PMID:29452157|PMID:29710196|PMID:29988065|PMID:30291343|PMID:30297972|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30588760|PMID:30706179|PMID:30775854|PMID:30796699|PMID:30847666|PMID:31019283|PMID:31104103|PMID:31127036|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31771554|PMID:31847883|PMID:31980526|PMID:31983221|PMID:32453731|PMID:32665702|PMID:32746448|PMID:32880476|PMID:33087929|PMID:33190526|PMID:33495597|PMID:33500567|PMID:33548158|PMID:33558530|PMID:33673806|PMID:33731536|PMID:33891674|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982|PMID:9724616 11832473 MYL2 myosin light chain 2 gene DOID:0110316 hypertrophic cardiomyopathy 10 ISO RGD:737270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 10 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 10 PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16751284|PMID:16837010|PMID:17576681|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:18987303|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21520333|PMID:21723297|PMID:21823217|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23549607|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24374283|PMID:24793961|PMID:24842367|PMID:24992035|PMID:25031304|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25770245|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26385864|PMID:26497160|PMID:26656175|PMID:26664906|PMID:26906074|PMID:26914223|PMID:26936621|PMID:27153395|PMID:27378946|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28223422|PMID:28323875|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28611029|PMID:28640247|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28855170|PMID:28991257|PMID:29099038|PMID:29247119|PMID:29253866|PMID:29398688|PMID:29447731|PMID:29452157|PMID:29710196|PMID:29988065|PMID:30291343|PMID:30297972|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30588760|PMID:30706179|PMID:30775854|PMID:30796699|PMID:30847666|PMID:31019283|PMID:31104103|PMID:31127036|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31771554|PMID:31847883|PMID:31980526|PMID:31983221|PMID:32453731|PMID:32600061|PMID:32665702|PMID:32746448|PMID:32880476|PMID:33087929|PMID:33190526|PMID:33337957|PMID:33500567|PMID:33548158|PMID:33558530|PMID:33662488|PMID:33673806|PMID:33731536|PMID:33891674|PMID:34935411|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982|PMID:9724616 11832473 MYL2 myosin light chain 2 gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:737270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:18533079|PMID:20173211|PMID:21310275|PMID:22958901|PMID:23299917|PMID:23343568|PMID:23396983|PMID:24033266|PMID:24055113|PMID:24111713|PMID:25524337|PMID:25637381|PMID:25741868|PMID:27483260|PMID:27600940|PMID:28492532|PMID:28750076|PMID:28771489|PMID:29253866|PMID:30403391|PMID:31019283|PMID:31323898|PMID:31771554 11832473 MYL2 myosin light chain 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16751284|PMID:16837010|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21723297|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23549607|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26497160|PMID:26664906|PMID:26906074|PMID:26914223|PMID:27153395|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28223422|PMID:28492532|PMID:28750076|PMID:28771489|PMID:28855170|PMID:28991257|PMID:29253866|PMID:29398688|PMID:29452157|PMID:29710196|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30706179|PMID:30775854|PMID:30796699|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31104103|PMID:31323898|PMID:31513939|PMID:31771554|PMID:32453731|PMID:32665702|PMID:32746448|PMID:32880476|PMID:33087929|PMID:33190526|PMID:33548158|PMID:33673806|PMID:8673105|PMID:9535554|PMID:9724616 11832473 MYL2 myosin light chain 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:737270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18533079|PMID:20173211|PMID:21310275|PMID:22958901|PMID:23299917|PMID:23343568|PMID:23396983|PMID:24033266|PMID:24055113|PMID:24111713|PMID:25524337|PMID:25637381|PMID:25741868|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28492532|PMID:28750076|PMID:28771489|PMID:28855170|PMID:29253866|PMID:30403391|PMID:31019283|PMID:31323898|PMID:31771554 11832473 MYL2 myosin light chain 2 gene DOID:1682 congenital heart disease ISO RGD:737270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital heart disease PMID:25741868|PMID:28492532 11832473 MYL2 myosin light chain 2 gene DOID:422 congenital structural myopathy ISO RGD:737270 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:25741868|PMID:28855170|PMID:32453731|PMID:32600061|PMID:33731536 11832473 MYL2 myosin light chain 2 gene DOID:6000 congestive heart failure ISO RGD:737270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:12404107|PMID:24033266|PMID:25741868|PMID:28492532 11832473 MYL2 myosin light chain 2 gene DOID:630 genetic disease ISO RGD:737270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11102452|PMID:12668451|PMID:14594949|PMID:25324513|PMID:25741868|PMID:28492532|PMID:9535554 11832473 MYL2 myosin light chain 2 gene DOID:9000543 Death ISO RGD:737270 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Death in early adulthood PMID:08673105|PMID:10948063|PMID:11102452|PMID:12404107|PMID:12668451|PMID:14594949|PMID:16076902|PMID:16751284|PMID:17606808|PMID:21310275|PMID:21896538|PMID:24033266|PMID:25324513|PMID:25351510|PMID:25741868|PMID:26497160|PMID:27435932|PMID:27532257|PMID:28138913|PMID:28166811|PMID:28492532|PMID:28771489|PMID:30706179|PMID:30847666|PMID:31513939|PMID:32665702|PMID:32880476|PMID:33087929|PMID:33548158|PMID:33673806|PMID:8673105|PMID:9724616 11832473 MYL2 myosin light chain 2 gene DOID:9003320 Myofibrillar Myopathy 12 ISO RGD:737270 D RGD:7240710 20210818 OMIM 11832473 MYL2 myosin light chain 2 gene DOID:9003320 Myofibrillar Myopathy 12 ISO RGD:737270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY | ClinVar Annotator: match by term: Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy PMID:09535554|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:14594949|PMID:15483641|PMID:16837010|PMID:17576681|PMID:18929571|PMID:19150977|PMID:20855589|PMID:21415409|PMID:22260945|PMID:22958901|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24842367|PMID:25324513|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26284228|PMID:27378946|PMID:27435932|PMID:27476098|PMID:27532257|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28640247|PMID:28855170|PMID:29447731|PMID:30291343|PMID:30847666|PMID:31847883|PMID:31980526|PMID:32453731|PMID:32600061|PMID:32665702|PMID:33337957|PMID:33558530|PMID:33662488|PMID:33731536|PMID:34935411|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982 11832473 MYL2 myosin light chain 2 gene DOID:9006030 Infant Death ISO RGD:737270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Death in infancy PMID:11102452|PMID:11748309|PMID:12668451|PMID:14594949|PMID:15483641|PMID:16837010|PMID:18929571|PMID:19150977|PMID:20855589|PMID:21415409|PMID:22958901|PMID:23299917|PMID:23343568|PMID:24033266|PMID:24111713|PMID:24842367|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26284228|PMID:27435932|PMID:28467684|PMID:28492532|PMID:28518168|PMID:33337957|PMID:33558530|PMID:34935411|PMID:8673105 11832473 MYL2 myosin light chain 2 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:737270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction PMID:11102452|PMID:11748309|PMID:12668451|PMID:14594949|PMID:15483641|PMID:16837010|PMID:18929571|PMID:19150977|PMID:20855589|PMID:21415409|PMID:22958901|PMID:23299917|PMID:23343568|PMID:24033266|PMID:24111713|PMID:24842367|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26284228|PMID:27435932|PMID:28467684|PMID:28492532|PMID:28518168|PMID:33337957|PMID:33558530|PMID:34935411|PMID:8673105 11832484 VAMP2 vesicle associated membrane protein 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:735448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11832484 VAMP2 vesicle associated membrane protein 2 gene DOID:12177 common variable immunodeficiency ISO RGD:735448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11832484 VAMP2 vesicle associated membrane protein 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:735448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11832484 VAMP2 vesicle associated membrane protein 2 gene DOID:2729 dyskeratosis congenita ISO RGD:735448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11832484 VAMP2 vesicle associated membrane protein 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:735448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 11832484 VAMP2 vesicle associated membrane protein 2 gene DOID:630 genetic disease ISO RGD:735448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11832484 VAMP2 vesicle associated membrane protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735448 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11832484 VAMP2 vesicle associated membrane protein 2 gene DOID:9005460 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS ISO RGD:735448 D RGD:7240710 20200318 OMIM 11832484 VAMP2 vesicle associated membrane protein 2 gene DOID:9005460 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS ISO RGD:735448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements PMID:25741868|PMID:30929742 11832497 ZBTB48 zinc finger and BTB domain containing 48 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1346774 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11832497 ZBTB48 zinc finger and BTB domain containing 48 gene DOID:630 genetic disease ISO RGD:1346774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832497 ZBTB48 zinc finger and BTB domain containing 48 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11832521 RCN1 reticulocalbin 1 gene DOID:1059 intellectual disability ISO RGD:1322672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11832521 RCN1 reticulocalbin 1 gene DOID:305 carcinoma ISO RGD:1322672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11832521 RCN1 reticulocalbin 1 gene DOID:3764 Denys-Drash syndrome ISO RGD:1322672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Drash syndrome PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28492532 11832521 RCN1 reticulocalbin 1 gene DOID:630 genetic disease ISO RGD:1322672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832521 RCN1 reticulocalbin 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1322672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11832521 RCN1 reticulocalbin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11832521 RCN1 reticulocalbin 1 gene DOID:9002455 Aniridia 1 ISO RGD:1322672 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aniridia 1 PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28492532 11832521 RCN1 reticulocalbin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1322672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11832530 MLST8 MTOR associated protein, LST8 homolog gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736229 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 11832530 MLST8 MTOR associated protein, LST8 homolog gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:736229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 11832530 MLST8 MTOR associated protein, LST8 homolog gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11832530 MLST8 MTOR associated protein, LST8 homolog gene DOID:1826 epilepsy ISO RGD:736229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11832530 MLST8 MTOR associated protein, LST8 homolog gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11832530 MLST8 MTOR associated protein, LST8 homolog gene DOID:2871 endometrial carcinoma ISO RGD:736229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 11832530 MLST8 MTOR associated protein, LST8 homolog gene DOID:630 genetic disease ISO RGD:736229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832530 MLST8 MTOR associated protein, LST8 homolog gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 11832545 PNMA8A PNMA family member 8A gene DOID:630 genetic disease ISO RGD:1605375 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832552 BCL2L12 BCL2 like 12 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1606211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11832552 BCL2L12 BCL2 like 12 gene DOID:1909 melanoma ISO RGD:1606211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:26619011 11832552 BCL2L12 BCL2 like 12 gene DOID:630 genetic disease ISO RGD:1606211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832552 BCL2L12 BCL2 like 12 gene DOID:8923 skin melanoma ISO RGD:1606211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:26619011 11832571 EFHC1 EF-hand domain containing 1 gene DOID:0070309 absence epilepsy ISO RGD:1317534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Absence epilepsy | ClinVar Annotator: match by term: Absence seizure PMID:12439895|PMID:15258581|PMID:16839746|PMID:17159113|PMID:17634063|PMID:18414213|PMID:18823326|PMID:22226147|PMID:22690745|PMID:22926142|PMID:23527921|PMID:24965021|PMID:25489633|PMID:25625532|PMID:25741868|PMID:26467025|PMID:27467453|PMID:28166811|PMID:28370826|PMID:28492532|PMID:31875159 11832571 EFHC1 EF-hand domain containing 1 gene DOID:0111321 idiopathic generalized epilepsy 7 ISO RGD:1317534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EIG7 PMID:25741868|PMID:28166811|PMID:28492532 11832571 EFHC1 EF-hand domain containing 1 gene DOID:0111324 juvenile absence epilepsy 1 ISO RGD:1317534 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Epilepsy, juvenile absence, susceptibility to, 1 PMID:25741868|PMID:28492532 11832571 EFHC1 EF-hand domain containing 1 gene DOID:0111324 juvenile absence epilepsy 1 susceptibility ISO RGD:1317534 D RGD:7240710 20190904 OMIM 11832571 EFHC1 EF-hand domain containing 1 gene DOID:1825 childhood absence epilepsy ISO RGD:1317534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11832571 EFHC1 EF-hand domain containing 1 gene DOID:1826 epilepsy ISO RGD:1317534 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:28492532 11832571 EFHC1 EF-hand domain containing 1 gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:1317534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: EJM1 | ClinVar Annotator: match by term: Janz syndrome | ClinVar Annotator: match by term: Juvenile myoclonic epilepsy | ClinVar Annotator: match by term: Myoclonic Epilepsy, Juvenile, 1 PMID:12439895|PMID:15258581|PMID:16199547|PMID:16839746|PMID:17054699|PMID:17159113|PMID:17576681|PMID:17634063|PMID:18414213|PMID:18505993|PMID:18823326|PMID:20981092|PMID:22226147|PMID:22690745|PMID:22727576|PMID:22926142|PMID:23527921|PMID:24033266|PMID:24965021|PMID:25108116|PMID:25326635|PMID:25489633|PMID:25625532|PMID:25741868|PMID:26467025|PMID:27467453|PMID:28166811|PMID:28370826|PMID:28492532|PMID:29750216|PMID:31875159|PMID:8737649|PMID:9536098 11832571 EFHC1 EF-hand domain containing 1 gene DOID:4890 juvenile myoclonic epilepsy susceptibility ISO RGD:1317534 D RGD:7240710 20190502 OMIM 11832571 EFHC1 EF-hand domain containing 1 gene DOID:630 genetic disease ISO RGD:1317534 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532 11832591 MSGN1 mesogenin 1 gene DOID:4450 renal cell carcinoma ISO RGD:1602271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 11832591 MSGN1 mesogenin 1 gene DOID:630 genetic disease ISO RGD:1602271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832594 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:0050861 colorectal adenocarcinoma severity ISO RGD:68584 D RGD:9068941 20200609 RGD DNA:amplification: (human) PMID:17289873|REF_RGD_ID:9693694 11832594 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:1059 intellectual disability ISO RGD:68584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:23020937|PMID:25741868|PMID:26264464|PMID:26818738|PMID:28492532|PMID:28628100|PMID:32581362|PMID:32860008 11832594 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:1059 intellectual disability ISO RGD:68584 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome PMID:25741868|PMID:26264464|PMID:26818738|PMID:28492532|PMID:32581362|PMID:32860008 11832594 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:68584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11832594 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:1826 epilepsy ISO RGD:68584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:23020937|PMID:25741868|PMID:26264464|PMID:26818738|PMID:28492532|PMID:28628100|PMID:32581362|PMID:32860008 11832594 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:3347 osteosarcoma ISO RGD:68584 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22248279 11832594 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:4450 renal cell carcinoma ISO RGD:68584 D RGD:9068941 20200609 RGD protein:increased expression:kidney (human) PMID:18777199|REF_RGD_ID:9693695 11832594 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:630 genetic disease ISO RGD:68584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23020937|PMID:25741868|PMID:25915598|PMID:26264464|PMID:26818738|PMID:27516594|PMID:28492532|PMID:28628100|PMID:32581362|PMID:32860008|PMID:33619735 11832594 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:68584 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:17022810|REF_RGD_ID:9693723 11832594 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:9002680 Zimmermann-Laband Syndrome 1 ISO RGD:68584 D RGD:7240710 20191113 OMIM 11832594 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:9002680 Zimmermann-Laband Syndrome 1 ISO RGD:68584 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1 PMID:18541964|PMID:20683999|PMID:23020937|PMID:23994350|PMID:24357613|PMID:25420144|PMID:25741868|PMID:25915598|PMID:26264464|PMID:26818738|PMID:27267311|PMID:28492532|PMID:28628100|PMID:32581362|PMID:32860008|PMID:33619735 11832594 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:9004260 Zimmerman Laband Syndrome ISO RGD:68584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laband syndrome PMID:23020937|PMID:25741868|PMID:26264464|PMID:26818738|PMID:28492532|PMID:28628100|PMID:32581362|PMID:32860008 11832594 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11832594 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:9007410 Temple-Baraitser syndrome ISO RGD:68584 D RGD:7240710 20180130 OMIM 11832594 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:9007410 Temple-Baraitser syndrome ISO RGD:68584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: KCNH1 associated disorder | ClinVar Annotator: match by term: Temple-Baraitser syndrome PMID:18203178|PMID:20683999|PMID:23020937|PMID:24357613|PMID:25420144|PMID:25741868|PMID:25915598|PMID:26264464|PMID:26818738|PMID:28492532|PMID:28628100|PMID:32581362|PMID:32860008|PMID:33619735 11832594 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:9008582 Developmental Disease ISO RGD:68584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11832594 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:68584 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17520698 11832594 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:68584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11832617 CCDC42 coiled-coil domain containing 42 gene DOID:630 genetic disease ISO RGD:1601721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832631 NKX6-1 NK6 homeobox 1 gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1346979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 11832631 NKX6-1 NK6 homeobox 1 gene DOID:630 genetic disease ISO RGD:1346979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832631 NKX6-1 NK6 homeobox 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:69318 D RGD:9068941 20200609 RGD PMID:18687784|REF_RGD_ID:2311166 11832631 NKX6-1 NK6 homeobox 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1346979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 11832631 NKX6-1 NK6 homeobox 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 11832638 DHX40 DEAH-box helicase 40 gene DOID:0050777 Joubert syndrome ISO RGD:1350869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11832638 DHX40 DEAH-box helicase 40 gene DOID:630 genetic disease ISO RGD:1350869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832666 CENPK centromere protein K gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1605966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29581250 11832666 CENPK centromere protein K gene DOID:630 genetic disease ISO RGD:1605966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832666 CENPK centromere protein K gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11832707 SGSM2 small G protein signaling modulator 2 gene DOID:10283 prostate cancer ISO RGD:1315867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11832707 SGSM2 small G protein signaling modulator 2 gene DOID:630 genetic disease ISO RGD:1315867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832707 SGSM2 small G protein signaling modulator 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11832736 MRTO4 MRT4 homolog, ribosome maturation factor gene DOID:0060369 Parkinson's disease 6 ISO RGD:1323307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11832736 MRTO4 MRT4 homolog, ribosome maturation factor gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1323307 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11832736 MRTO4 MRT4 homolog, ribosome maturation factor gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1323307 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11832736 MRTO4 MRT4 homolog, ribosome maturation factor gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1323307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11832736 MRTO4 MRT4 homolog, ribosome maturation factor gene DOID:630 genetic disease ISO RGD:1323307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832736 MRTO4 MRT4 homolog, ribosome maturation factor gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1323307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11832758 FBF1 Fas binding factor 1 gene DOID:630 genetic disease ISO RGD:1321696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832804 LDLRAD3 low density lipoprotein receptor class A domain containing 3 gene DOID:1059 intellectual disability ISO RGD:1605868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11832804 LDLRAD3 low density lipoprotein receptor class A domain containing 3 gene DOID:303 substance-related disorder ISO RGD:1605868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11832804 LDLRAD3 low density lipoprotein receptor class A domain containing 3 gene DOID:630 genetic disease ISO RGD:1605868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832827 TCF23 transcription factor 23 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1606698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11832827 TCF23 transcription factor 23 gene DOID:630 genetic disease ISO RGD:1606698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832834 ADSL adenylosuccinate lyase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316916 D RGD:7240710 20180130 OMIM 11832834 ADSL adenylosuccinate lyase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:10090474|PMID:10888601|PMID:10958654|PMID:12016589|PMID:12070256|PMID:12368987|PMID:12833398|PMID:1302001|PMID:1405483|PMID:15571235|PMID:15571240|PMID:16199547|PMID:16403972|PMID:16839792|PMID:17188615|PMID:17576681|PMID:18524658|PMID:18830228|PMID:19405474|PMID:20049533|PMID:20127976|PMID:20175147|PMID:20177786|PMID:20884265|PMID:20933180|PMID:21210713|PMID:22180458|PMID:22812634|PMID:23055421|PMID:23504561|PMID:23714113|PMID:23937257|PMID:24033266|PMID:24781210|PMID:25112391|PMID:25326635|PMID:25741868|PMID:26467025|PMID:27504266|PMID:28487569|PMID:28492532|PMID:28559277|PMID:29302074|PMID:29314763|PMID:29655203|PMID:30185235|PMID:30609409|PMID:31164858|PMID:31467849|PMID:3234432|PMID:32681428|PMID:33648541|PMID:6150139|PMID:7334371|PMID:8598641|PMID:9165520|PMID:9197470|PMID:9266401|PMID:9536098|PMID:9545543 11832834 ADSL adenylosuccinate lyase gene DOID:0060041 autism spectrum disorder ISO RGD:1316916 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11832834 ADSL adenylosuccinate lyase gene DOID:10283 prostate cancer severity ISO RGD:1316916 D RGD:9068941 20200609 RGD protein:increased activity:tumor (human) PMID:3690833|REF_RGD_ID:1598760 11832834 ADSL adenylosuccinate lyase gene DOID:1059 intellectual disability ISO RGD:1316916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11832834 ADSL adenylosuccinate lyase gene DOID:12849 autistic disorder ISO RGD:1316916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15471876 11832834 ADSL adenylosuccinate lyase gene DOID:1612 breast cancer ISO RGD:1307617 D RGD:9068941 20200609 RGD protein:increased activity:tumor (rat) PMID:2937404|REF_RGD_ID:1598766 11832834 ADSL adenylosuccinate lyase gene DOID:1612 breast cancer severity ISO RGD:1316916 D RGD:9068941 20200609 RGD protein:increased activity:tumor (human) PMID:3690833|REF_RGD_ID:1598760 11832834 ADSL adenylosuccinate lyase gene DOID:630 genetic disease ISO RGD:1316916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10090474|PMID:10888601|PMID:10958654|PMID:12016589|PMID:12833398|PMID:16839792|PMID:17188615|PMID:18524658|PMID:20127976|PMID:20175147|PMID:20933180|PMID:22180458|PMID:23504561|PMID:23714113|PMID:23937257|PMID:24033266|PMID:24781210|PMID:25112391|PMID:25741868|PMID:26467025|PMID:27504266|PMID:28487569|PMID:28492532|PMID:28559277|PMID:29655203|PMID:30185235|PMID:30609409|PMID:31164858|PMID:31467849|PMID:33648541|PMID:7334371|PMID:9266401 11832834 ADSL adenylosuccinate lyase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1307617 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:2937404|REF_RGD_ID:1598766 11832834 ADSL adenylosuccinate lyase gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1316916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized myoclonic seizures PMID:10090474|PMID:10888601|PMID:10958654|PMID:17188615|PMID:18524658|PMID:20127976|PMID:22180458|PMID:25741868|PMID:28492532|PMID:31467849 11832834 ADSL adenylosuccinate lyase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1307617 D RGD:9068941 20200609 RGD protein:increased activity:heart (rat) PMID:3360219|REF_RGD_ID:1598762 11832854 SNAPC5 small nuclear RNA activating complex polypeptide 5 gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:1313202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome 11832854 SNAPC5 small nuclear RNA activating complex polypeptide 5 gene DOID:0080690 RASopathy ISO RGD:1313202 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: RASopathy PMID:24033266|PMID:25741868|PMID:28492532 11832854 SNAPC5 small nuclear RNA activating complex polypeptide 5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1313202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11832854 SNAPC5 small nuclear RNA activating complex polypeptide 5 gene DOID:1909 melanoma ISO RGD:1313202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melanoma PMID:22197931 11832854 SNAPC5 small nuclear RNA activating complex polypeptide 5 gene DOID:2717 Bloom syndrome ISO RGD:1313202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11832854 SNAPC5 small nuclear RNA activating complex polypeptide 5 gene DOID:2843 long QT syndrome ISO RGD:1313202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11832854 SNAPC5 small nuclear RNA activating complex polypeptide 5 gene DOID:3490 Noonan syndrome ISO RGD:1313202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 11832854 SNAPC5 small nuclear RNA activating complex polypeptide 5 gene DOID:630 genetic disease ISO RGD:1313202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11832854 SNAPC5 small nuclear RNA activating complex polypeptide 5 gene DOID:9256 colorectal cancer ISO RGD:1313202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11832866 MORN5 MORN repeat containing 5 gene DOID:630 genetic disease ISO RGD:1317107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832881 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:0080199 colorectal carcinoma ISO RGD:1313885 D RGD:9068941 20200609 RGD DNA:insertion, deletion:exon:c.939_940insA, c.939delA (human) PMID:10637515|REF_RGD_ID:9588975 11832881 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:0080803 cranioectodermal dysplasia 1 ISO RGD:1313885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 PMID:28492532 11832881 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:0111947 immunodeficiency 21 ISO RGD:1313885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 11832881 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:12849 autistic disorder ISO RGD:1313885 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19921286 11832881 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:1324 lung cancer susceptibility ISO RGD:1313885 D RGD:9068941 20200609 RGD DNA:snp:cds:p.E346K (rs140693) (human) PMID:18495292|REF_RGD_ID:9588970 11832881 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1313885 D RGD:9068941 20200609 RGD DNA:snp:cds:p.E346K (rs140693) (human) PMID:15205355|REF_RGD_ID:9588976 11832881 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1313885 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS5-140A>G (rs3138355) (human) PMID:25162968|REF_RGD_ID:9588980 11832881 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:6039 uveal melanoma ISO RGD:1313885 D RGD:7240710 20230505 OMIM 11832881 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:6039 uveal melanoma ISO RGD:1313885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Melanoma, uveal, susceptibility to, 1 PMID:28492532|PMID:29760383|PMID:30049810|PMID:30714079|PMID:32239153|PMID:35460607 11832881 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:630 genetic disease ISO RGD:1313885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832881 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:7148 rheumatoid arthritis no_association ISO RGD:1313885 D RGD:9068941 20200609 RGD DNA:snps:cds, intron:p.E346K, IVS6-218C>T (rs140693, rs2005618) (human) PMID:22505706|REF_RGD_ID:9588978 11832881 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1313885 D RGD:9068941 20200609 RGD DNA:snps:introns:IVS5-140A>G (rs3138355), IVS6-218C>T (rs2005618) (human) PMID:20676650|REF_RGD_ID:9588977 11832881 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:9000676 Tumor Predisposition Syndrome 2 ISO RGD:1313885 D RGD:7240710 20230505 OMIM 11832881 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:9000676 Tumor Predisposition Syndrome 2 ISO RGD:1313885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tumor predisposition syndrome 2 PMID:25741868|PMID:28492532|PMID:29760383|PMID:30049810|PMID:30714079|PMID:31322271|PMID:32239153|PMID:35460607 11832881 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:9002245 Intestinal Neoplasms severity ISO RGD:1313886 D RGD:9068941 20200609 RGD PMID:12130785|REF_RGD_ID:9588981 11832881 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313885 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:30049810|PMID:33871441 11832881 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:9008443 Colorectal Neoplasms severity ISO RGD:1313885 D RGD:9068941 20200609 RGD mRNA:increased expression:colon, rectum (human) PMID:18097604|REF_RGD_ID:9588979 11832881 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:9008443 Colorectal Neoplasms susceptibility ISO RGD:1313885 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.E346K (human) PMID:19469655|REF_RGD_ID:2316846 11832881 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1313885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 11832881 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:9270 alkaptonuria ISO RGD:1313885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11832897 NWD2 NACHT and WD repeat domain containing 2 gene DOID:630 genetic disease ISO RGD:1603203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832908 NUPR1 nuclear protein 1, transcriptional regulator gene DOID:0050457 Sertoli cell-only syndrome ISO RGD:732432 D RGD:9068941 20220825 MouseDO OMIM:305700 | OMIM:400042 11832908 NUPR1 nuclear protein 1, transcriptional regulator gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 11832908 NUPR1 nuclear protein 1, transcriptional regulator gene DOID:4989 pancreatitis ISO RGD:736958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16822955 11832908 NUPR1 nuclear protein 1, transcriptional regulator gene DOID:5419 schizophrenia ISO RGD:736958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11832908 NUPR1 nuclear protein 1, transcriptional regulator gene DOID:630 genetic disease ISO RGD:736958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832908 NUPR1 nuclear protein 1, transcriptional regulator gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11832908 NUPR1 nuclear protein 1, transcriptional regulator gene DOID:9455 lipid storage disease ISO RGD:736958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17175557 11832908 NUPR1 nuclear protein 1, transcriptional regulator gene DOID:9775 diastolic heart failure ISO RGD:736958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 11832916 ELMO1 engulfment and cell motility 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1317811 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 11832916 ELMO1 engulfment and cell motility 1 gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:1317811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 PMID:28492532 11832916 ELMO1 engulfment and cell motility 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11832916 ELMO1 engulfment and cell motility 1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1317811 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23525077 11832916 ELMO1 engulfment and cell motility 1 gene DOID:630 genetic disease ISO RGD:1317811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832916 ELMO1 engulfment and cell motility 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1317811 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17942768 11832962 PCDHB8 protocadherin beta 8 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1349292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11832962 PCDHB8 protocadherin beta 8 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349292 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11832962 PCDHB8 protocadherin beta 8 gene DOID:1909 melanoma ISO RGD:1349292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 11832962 PCDHB8 protocadherin beta 8 gene DOID:630 genetic disease ISO RGD:1349292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11832962 PCDHB8 protocadherin beta 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11832962 PCDHB8 protocadherin beta 8 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349292 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11832982 LRRC14B leucine rich repeat containing 14B gene DOID:630 genetic disease ISO RGD:3418715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833013 GDF7 growth differentiation factor 7 gene DOID:630 genetic disease ISO RGD:1322500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833024 MEAK7 MTOR associated protein, eak-7 homolog gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1605650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 11833024 MEAK7 MTOR associated protein, eak-7 homolog gene DOID:630 genetic disease ISO RGD:1605650 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833041 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:0090139 cortisone reductase deficiency ISO RGD:737091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25526675 11833041 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:0090139 cortisone reductase deficiency ISO RGD:737091 D RGD:9068941 20200609 RGD DNA:insertion,transversion:intron:86557insA, 83597T>G (human) PMID:12858176|REF_RGD_ID:1625067 11833041 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:0090140 cortisone reductase deficiency 2 ISO RGD:737091 D RGD:7240710 20180130 OMIM 11833041 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:0090140 cortisone reductase deficiency 2 ISO RGD:737091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cortisone reductase deficiency 2 PMID:21325058|PMID:25741868 11833041 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:10763 hypertension ISO RGD:737091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15199296|PMID:21786805|PMID:9683905 11833041 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:1168 familial hyperlipidemia ISO RGD:2834 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:islet cells:diabetic but not prediabetic Zucker Diabetic Fatty (fa/fa) rats PMID:14697232|REF_RGD_ID:1625074 11833041 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:737091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11833041 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:1824 status epilepticus ISO RGD:2834 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:22050960|REF_RGD_ID:5686281 11833041 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:3042 allergic contact dermatitis ISO RGD:737091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 11833041 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:4195 hyperglycemia ISO RGD:737091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14697232 11833041 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:630 genetic disease ISO RGD:737091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833041 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:7148 rheumatoid arthritis ISO RGD:737091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 11833041 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14697232 11833041 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:2834 D RGD:9068941 20200609 RGD PMID:14697232|REF_RGD_ID:1625074 11833041 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9007692 Insulin Resistance ISO RGD:737091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21786805 11833041 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9007772 Abdominal Obesity ISO RGD:737091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15199296 11833041 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11833041 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2834 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:islet cells:diabetic but not prediabetic Zucker Diabetic Fatty (fa/fa) rats PMID:14697232|REF_RGD_ID:1625074 11833041 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9970 obesity ISO RGD:10734 D RGD:9068941 20200609 RGD PMID:16612591|REF_RGD_ID:1625072 11833041 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9970 obesity ISO RGD:2834 D RGD:9068941 20200609 RGD PMID:15131764|REF_RGD_ID:1625073 11833041 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9970 obesity ISO RGD:737091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17628001|PMID:21786805 11833041 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9970 obesity ISO RGD:737091 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue:13-fold higher in obese subjects than controls, protein expression also increased PMID:16914598|REF_RGD_ID:1625071 11833052 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:0080475 psoriasis 2 ISO RGD:1345995 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Psoriasis 2 PMID:24033266|PMID:25741868|PMID:28492532 11833052 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1345995 D RGD:7240710 20191106 OMIM 11833052 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1345995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA (Sanfilippo A) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:10521831|PMID:10601282|PMID:10727844|PMID:11182930|PMID:11343308|PMID:11668611|PMID:11793481|PMID:11903343|PMID:12000360|PMID:12438493|PMID:12490062|PMID:12702166|PMID:15146460|PMID:15542396|PMID:15637719|PMID:16174644|PMID:16199547|PMID:17128482|PMID:17576681|PMID:18407553|PMID:19099774|PMID:19383612|PMID:21061399|PMID:21204211|PMID:21228398|PMID:21393040|PMID:21455105|PMID:21671382|PMID:21910976|PMID:21963080|PMID:22002444|PMID:22976768|PMID:22976788|PMID:23084433|PMID:24314109|PMID:24347096|PMID:24576347|PMID:24816101|PMID:24875751|PMID:25113300|PMID:25557439|PMID:25741868|PMID:25807448|PMID:26075876|PMID:26331342|PMID:26648750|PMID:26787381|PMID:27590925|PMID:27896117|PMID:28101780|PMID:28283807|PMID:28492532|PMID:28844463|PMID:29023963|PMID:30070758|PMID:30593151|PMID:30809705|PMID:31536183|PMID:31718697|PMID:32036093|PMID:32214227|PMID:32447333|PMID:32581362|PMID:33673364|PMID:34690354|PMID:34991944|PMID:5542396|PMID:7493035|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9536098|PMID:9554748|PMID:9700599|PMID:9744479 11833052 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:1059 intellectual disability ISO RGD:1345995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24576347|PMID:25741868|PMID:28492532|PMID:32214227|PMID:9285796 11833052 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:12798 mucopolysaccharidosis ISO RGD:1345995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidoses | ClinVar Annotator: match by term: Mucopolysaccharidosis PMID:10521831|PMID:10601282|PMID:11182930|PMID:11343308|PMID:12490062|PMID:15146460|PMID:15542396|PMID:18407553|PMID:21061399|PMID:21204211|PMID:21671382|PMID:21910976|PMID:22976768|PMID:22976788|PMID:24314109|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:28492532|PMID:28844463|PMID:29023963|PMID:30809705|PMID:31536183|PMID:32581362|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9554748|PMID:9700599|PMID:9744479 11833052 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:12801 mucopolysaccharidosis III ISO RGD:1345995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome PMID:10521831|PMID:10601282|PMID:10727844|PMID:11182930|PMID:11343308|PMID:11668611|PMID:12490062|PMID:15146460|PMID:15542396|PMID:18407553|PMID:21061399|PMID:21204211|PMID:21671382|PMID:21910976|PMID:22002444|PMID:22976768|PMID:22976788|PMID:24314109|PMID:24816101|PMID:24875751|PMID:25557439|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:27590925|PMID:28492532|PMID:28844463|PMID:29023963|PMID:30809705|PMID:31536183|PMID:32581362|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9554748|PMID:9700599|PMID:9744479 11833052 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:1289 neurodegenerative disease ISO RGD:1345995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder PMID:10601282|PMID:11343308|PMID:12490062|PMID:15146460|PMID:18407553|PMID:21061399|PMID:21671382|PMID:22976768|PMID:22976788|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:28492532|PMID:29023963|PMID:30809705|PMID:31536183|PMID:32581362|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9700599 11833052 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:13250 diarrhea ISO RGD:1345995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diarrhea PMID:15146460|PMID:18407553|PMID:21061399|PMID:21671382|PMID:22976768|PMID:25741868|PMID:26787381|PMID:28492532|PMID:29023963|PMID:31536183|PMID:32581362|PMID:9401012 11833052 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1345995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:22521419|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30387497 11833052 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:2978 carbohydrate metabolic disorder ISO RGD:1345995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of mucopolysaccharide metabolism PMID:25741868|PMID:28492532 11833052 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:630 genetic disease ISO RGD:1345995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10521831|PMID:10601282|PMID:10727844|PMID:11182930|PMID:11343308|PMID:12000360|PMID:12490062|PMID:12702166|PMID:15146460|PMID:15542396|PMID:18407553|PMID:19099774|PMID:21061399|PMID:21204211|PMID:21228398|PMID:21910976|PMID:22976768|PMID:22976788|PMID:24314109|PMID:24347096|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:27590925|PMID:28492532|PMID:29023963|PMID:30070758|PMID:30593151|PMID:30809705|PMID:31536183|PMID:34991944|PMID:5542396|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9554748|PMID:9700599|PMID:9744479 11833052 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:8501 fundus dystrophy ISO RGD:1345995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15146460|PMID:18407553|PMID:21061399|PMID:21671382|PMID:22976768|PMID:25741868|PMID:26787381|PMID:28492532|PMID:29023963|PMID:31536183|PMID:32581362|PMID:9401012 11833052 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:9008086 Developmental Disabilities ISO RGD:1345995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:15146460|PMID:18407553|PMID:21061399|PMID:21671382|PMID:22976768|PMID:25741868|PMID:26787381|PMID:27590925|PMID:28492532|PMID:29023963|PMID:31536183|PMID:32581362|PMID:7493035|PMID:9158154|PMID:9285796|PMID:9401012 11833052 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:9212 pityriasis rubra pilaris ISO RGD:1345995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:16199547|PMID:17576681|PMID:22521419|PMID:24033266|PMID:25741868|PMID:28166811|PMID:28492532|PMID:30248356|PMID:30387497|PMID:30998217|PMID:9536098 11833052 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:9650 pathologic nystagmus ISO RGD:1345995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:15146460|PMID:18407553|PMID:21061399|PMID:21671382|PMID:22976768|PMID:25741868|PMID:26787381|PMID:28492532|PMID:29023963|PMID:31536183|PMID:32581362|PMID:9401012 11833063 NCL nucleolin gene DOID:0060476 Perlman syndrome ISO RGD:1342988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11833063 NCL nucleolin gene DOID:0110991 Joubert syndrome 22 ISO RGD:1342988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11833063 NCL nucleolin gene DOID:3910 lung adenocarcinoma ISO RGD:1342988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11833063 NCL nucleolin gene DOID:630 genetic disease ISO RGD:1342988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833063 NCL nucleolin gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3153 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:24608397|REF_RGD_ID:9686390 11833063 NCL nucleolin gene DOID:9006205 Animal Disease Models ISO RGD:1342988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11833063 NCL nucleolin gene DOID:9007102 Myocardial Ischemia ISO RGD:1342988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11833063 NCL nucleolin gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3153 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:23594402|REF_RGD_ID:9686384 11833081 ADAMDEC1 ADAM like decysin 1 gene DOID:630 genetic disease ISO RGD:1320430 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833110 GUCD1 guanylyl cyclase domain containing 1 gene DOID:1826 epilepsy ISO RGD:1353154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11833110 GUCD1 guanylyl cyclase domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1353154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11833110 GUCD1 guanylyl cyclase domain containing 1 gene DOID:630 genetic disease ISO RGD:1353154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833110 GUCD1 guanylyl cyclase domain containing 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 11833128 RCOR1 REST corepressor 1 gene DOID:0050777 Joubert syndrome ISO RGD:1313957 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:26489029 11833128 RCOR1 REST corepressor 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1313957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11833128 RCOR1 REST corepressor 1 gene DOID:630 genetic disease ISO RGD:1313957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833128 RCOR1 REST corepressor 1 gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1313957 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 11833128 RCOR1 REST corepressor 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1313957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25043185 11833142 MSL1 MSL complex subunit 1 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:2307385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 11833142 MSL1 MSL complex subunit 1 gene DOID:630 genetic disease ISO RGD:2307385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833156 LOC100970104 olfactory receptor 6T1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1344490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11833156 LOC100970104 olfactory receptor 6T1 gene DOID:5419 schizophrenia ISO RGD:1344490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11833156 LOC100970104 olfactory receptor 6T1 gene DOID:630 genetic disease ISO RGD:1344490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833156 LOC100970104 olfactory receptor 6T1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1344490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11833156 LOC100970104 olfactory receptor 6T1 gene DOID:9007661 Dwarfism ISO RGD:1344490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11833163 HSF2BP heat shock transcription factor 2 binding protein gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1349418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 11833163 HSF2BP heat shock transcription factor 2 binding protein gene DOID:0110266 cataract 9 multiple types ISO RGD:1349418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11833163 HSF2BP heat shock transcription factor 2 binding protein gene DOID:0112278 primary ovarian insufficiency 19 ISO RGD:1349418 D RGD:7240710 20210414 OMIM 11833163 HSF2BP heat shock transcription factor 2 binding protein gene DOID:0112278 primary ovarian insufficiency 19 ISO RGD:1349418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 19 PMID:25741868|PMID:32845237 11833163 HSF2BP heat shock transcription factor 2 binding protein gene DOID:12849 autistic disorder ISO RGD:1349418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11833163 HSF2BP heat shock transcription factor 2 binding protein gene DOID:630 genetic disease ISO RGD:1349418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833163 HSF2BP heat shock transcription factor 2 binding protein gene DOID:891 progressive myoclonus epilepsy ISO RGD:1349418 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11833163 HSF2BP heat shock transcription factor 2 binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11833163 HSF2BP heat shock transcription factor 2 binding protein gene DOID:9263 homocystinuria ISO RGD:1349418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11833163 HSF2BP heat shock transcription factor 2 binding protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:1349418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11833182 TRANK1 tetratricopeptide repeat and ankyrin repeat containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:2937319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11833182 TRANK1 tetratricopeptide repeat and ankyrin repeat containing 1 gene DOID:3312 bipolar disorder ISO RGD:2937319 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 11833182 TRANK1 tetratricopeptide repeat and ankyrin repeat containing 1 gene DOID:3883 Lynch syndrome ISO RGD:2937319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lynch syndrome 11833182 TRANK1 tetratricopeptide repeat and ankyrin repeat containing 1 gene DOID:630 genetic disease ISO RGD:2937319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833215 UCP2 uncoupling protein 2 gene DOID:0050770 polycystic liver disease ISO RGD:69171 D RGD:9068941 20220825 MouseDO OMIM:174050 11833215 UCP2 uncoupling protein 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:3932 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:18543254|REF_RGD_ID:7204434 11833215 UCP2 uncoupling protein 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69170 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:18308829|REF_RGD_ID:7204435 11833215 UCP2 uncoupling protein 2 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:3932 D RGD:9068941 20200609 RGD PMID:21359922|REF_RGD_ID:7175312 11833215 UCP2 uncoupling protein 2 gene DOID:0080600 COVID-19 ISO RGD:69170 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 11833215 UCP2 uncoupling protein 2 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:69170 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11833215 UCP2 uncoupling protein 2 gene DOID:1059 intellectual disability ISO RGD:69170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11833215 UCP2 uncoupling protein 2 gene DOID:10763 hypertension ISO RGD:69170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16685210 11833215 UCP2 uncoupling protein 2 gene DOID:10763 hypertension ISO RGD:69170 D RGD:9068941 20200609 RGD PMID:15106800|REF_RGD_ID:1580794 11833215 UCP2 uncoupling protein 2 gene DOID:10763 hypertension treatment ISO RGD:3932 D RGD:9068941 20200609 RGD PMID:20404217|REF_RGD_ID:7175297 11833215 UCP2 uncoupling protein 2 gene DOID:12858 Huntington's disease ISO RGD:69170 D RGD:9068941 20200609 RGD mRNA:decreased expression:peripheral blood (human) PMID:23029535|REF_RGD_ID:10045655 11833215 UCP2 uncoupling protein 2 gene DOID:13603 obstructive jaundice ISO RGD:3932 D RGD:9068941 20200609 RGD PMID:19632092|REF_RGD_ID:7204429 11833215 UCP2 uncoupling protein 2 gene DOID:1459 hypothyroidism ISO RGD:3932 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:21190599|REF_RGD_ID:7175296 11833215 UCP2 uncoupling protein 2 gene DOID:224 transient cerebral ischemia treatment ISO RGD:3932 D RGD:9068941 20200609 RGD PMID:19772611|REF_RGD_ID:7204428 11833215 UCP2 uncoupling protein 2 gene DOID:2316 brain ischemia ISO RGD:69170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17052689 11833215 UCP2 uncoupling protein 2 gene DOID:305 carcinoma ISO RGD:69170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11833215 UCP2 uncoupling protein 2 gene DOID:3407 carotid artery disease ISO RGD:69170 D RGD:9068941 20200609 RGD PMID:15604415|REF_RGD_ID:1580793 11833215 UCP2 uncoupling protein 2 gene DOID:6000 congestive heart failure ISO RGD:3932 D RGD:9068941 20200609 RGD PMID:20193183|REF_RGD_ID:7204426 11833215 UCP2 uncoupling protein 2 gene DOID:6000 congestive heart failure ISO RGD:3932 D RGD:9068941 20200609 RGD protein:decreased expression:heart, mitochondria PMID:20809120|REF_RGD_ID:7204424 11833215 UCP2 uncoupling protein 2 gene DOID:630 genetic disease ISO RGD:69170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11833215 UCP2 uncoupling protein 2 gene DOID:767 muscular atrophy ISO RGD:69171 D RGD:9068941 20200609 RGD mRNA:altered expression:quadriceps muscle (mouse) PMID:19462004|REF_RGD_ID:10045654 11833215 UCP2 uncoupling protein 2 gene DOID:783 end stage renal disease ISO RGD:69170 D RGD:9068941 20200609 RGD DNA:deletion PMID:18242170|REF_RGD_ID:7175299 11833215 UCP2 uncoupling protein 2 gene DOID:783 end stage renal disease susceptibility ISO RGD:69170 D RGD:9068941 20200609 RGD DNA:polymorphism: :-866G>A (human) PMID:19406964|REF_RGD_ID:7175298 11833215 UCP2 uncoupling protein 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:69170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11833215 UCP2 uncoupling protein 2 gene DOID:9000998 Brain Injuries ISO RGD:69170 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12858170 11833215 UCP2 uncoupling protein 2 gene DOID:9000998 Brain Injuries ISO RGD:69170 D RGD:9068941 20200609 RGD PMID:12858170|REF_RGD_ID:7204436 11833215 UCP2 uncoupling protein 2 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:3932 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:22195248|REF_RGD_ID:7175309 11833215 UCP2 uncoupling protein 2 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:69171 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22848482|REF_RGD_ID:7175295 11833215 UCP2 uncoupling protein 2 gene DOID:9003936 Cardiomegaly ISO RGD:69170 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25703824 11833215 UCP2 uncoupling protein 2 gene DOID:9004538 Hearing Loss ISO RGD:3932 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cochlea (rat) PMID:22543089|REF_RGD_ID:10045653 11833215 UCP2 uncoupling protein 2 gene DOID:9004590 Acute Liver Failure ISO RGD:3932 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:21272461|REF_RGD_ID:7175313 11833215 UCP2 uncoupling protein 2 gene DOID:9004786 Carbon Tetrachloride Poisoning ISO RGD:3932 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:19104935|REF_RGD_ID:7204431 11833215 UCP2 uncoupling protein 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11833215 UCP2 uncoupling protein 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3932 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:19227473|REF_RGD_ID:2313501 11833215 UCP2 uncoupling protein 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563825|PMID:16123366 11833215 UCP2 uncoupling protein 2 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3932 D RGD:9068941 20200609 RGD PMID:17704287|REF_RGD_ID:2302404 11833215 UCP2 uncoupling protein 2 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:69170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hyperinsulinism PMID:25741868 11833215 UCP2 uncoupling protein 2 gene DOID:9007096 Stroke ISO RGD:69170 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12858170 11833215 UCP2 uncoupling protein 2 gene DOID:9007096 Stroke ISO RGD:69170 D RGD:9068941 20200609 RGD PMID:12858170|REF_RGD_ID:7204436 11833215 UCP2 uncoupling protein 2 gene DOID:9007692 Insulin Resistance ISO RGD:69170 D RGD:9068941 20200609 RGD DNA:polymorphism, insertion:promoter:-866G>A (rs659366)(human) PMID:17870627|REF_RGD_ID:2313512 11833215 UCP2 uncoupling protein 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3932 D RGD:9068941 20200609 RGD mRNA:increased expression:myocardium PMID:19526854|REF_RGD_ID:2313528 11833215 UCP2 uncoupling protein 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3932 D RGD:9068941 20200609 RGD PMID:18344121|REF_RGD_ID:7175300 11833215 UCP2 uncoupling protein 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3932 D RGD:9068941 20200609 RGD associated with Obesity PMID:15356383|REF_RGD_ID:2313517 11833215 UCP2 uncoupling protein 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15562023|PMID:16123366 11833215 UCP2 uncoupling protein 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69171 D RGD:9068941 20200609 RGD PMID:11440717|REF_RGD_ID:737760 11833215 UCP2 uncoupling protein 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69171 D RGD:9068941 20200609 RGD mRNA:increased expression:brown fat, white fat, skeletal muscle PMID:11587528|REF_RGD_ID:2313630 11833215 UCP2 uncoupling protein 2 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:69170 D RGD:9068941 20200609 RGD DNA:polymorphism:exon (human) PMID:10382588|REF_RGD_ID:2313525 11833215 UCP2 uncoupling protein 2 gene DOID:9452 fatty liver disease ISO RGD:3932 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:21114362|REF_RGD_ID:7204423 11833215 UCP2 uncoupling protein 2 gene DOID:9452 fatty liver disease ISO RGD:69170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10860543 11833215 UCP2 uncoupling protein 2 gene DOID:9743 diabetic neuropathy susceptibility ISO RGD:69170 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism:promoter:-866G>A (rs659366)(human) PMID:16373902|REF_RGD_ID:2313516 11833215 UCP2 uncoupling protein 2 gene DOID:9965 toxoplasmosis susceptibility ISO RGD:69171 D RGD:9068941 20200609 RGD PMID:11101840|REF_RGD_ID:737759 11833215 UCP2 uncoupling protein 2 gene DOID:9970 obesity ISO RGD:69170 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Body mass index quantitative trait locus 4 PMID:11381268|PMID:15562023|PMID:18414213|PMID:25741868|PMID:28492532 11833215 UCP2 uncoupling protein 2 gene DOID:9970 obesity susceptibility ISO RGD:69170 D RGD:7240710 20190502 OMIM 11833227 GTF2H3 general transcription factor IIH subunit 3 gene DOID:0050777 Joubert syndrome ISO RGD:1313552 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11833227 GTF2H3 general transcription factor IIH subunit 3 gene DOID:630 genetic disease ISO RGD:1313552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833262 CALM3 calmodulin 3 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:737387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 11833262 CALM3 calmodulin 3 gene DOID:0080326 familial hypertrophic cardiomyopathy susceptibility ISO RGD:737387 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:¿¿¿34T>A(human) PMID:19429631|REF_RGD_ID:13792494 11833262 CALM3 calmodulin 3 gene DOID:0110644 long QT syndrome 1 ISO RGD:737387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:17576681|PMID:28492532|PMID:9536098 11833262 CALM3 calmodulin 3 gene DOID:0110644 long QT syndrome 1 ISO RGD:737387 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:17576681|PMID:25741868|PMID:28492532|PMID:31454269|PMID:9536098 11833262 CALM3 calmodulin 3 gene DOID:0110644 long QT syndrome 1 ISO RGD:737387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:11569915|PMID:17576681|PMID:23388215|PMID:24563457|PMID:24816216|PMID:24958779|PMID:25460178|PMID:25741868|PMID:26969752|PMID:27516456|PMID:28491681|PMID:28492532|PMID:31454269|PMID:9536098 11833262 CALM3 calmodulin 3 gene DOID:9007211 Long QT Syndrome 16 ISO RGD:737387 D RGD:7240710 20200226 OMIM 11833262 CALM3 calmodulin 3 gene DOID:9007211 Long QT Syndrome 16 ISO RGD:737387 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 16 PMID:17576681|PMID:25460178|PMID:25741868|PMID:28492532|PMID:31454269|PMID:9536098 11833272 DUSP9 dual specificity phosphatase 9 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1345424 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11833272 DUSP9 dual specificity phosphatase 9 gene DOID:0050476 Barth syndrome ISO RGD:1345424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11833272 DUSP9 dual specificity phosphatase 9 gene DOID:0050800 creatine transporter deficiency ISO RGD:1345424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11833272 DUSP9 dual specificity phosphatase 9 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11833272 DUSP9 dual specificity phosphatase 9 gene DOID:0112003 immunodeficiency 33 ISO RGD:1345424 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11833272 DUSP9 dual specificity phosphatase 9 gene DOID:10588 adrenoleukodystrophy ISO RGD:1345424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11833272 DUSP9 dual specificity phosphatase 9 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1345424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11833272 DUSP9 dual specificity phosphatase 9 gene DOID:12849 autistic disorder ISO RGD:1345424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11833272 DUSP9 dual specificity phosphatase 9 gene DOID:13628 favism ISO RGD:1345424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11833272 DUSP9 dual specificity phosphatase 9 gene DOID:2729 dyskeratosis congenita ISO RGD:1345424 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11833272 DUSP9 dual specificity phosphatase 9 gene DOID:607 paraplegia ISO RGD:1345424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11833272 DUSP9 dual specificity phosphatase 9 gene DOID:630 genetic disease ISO RGD:1345424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833272 DUSP9 dual specificity phosphatase 9 gene DOID:9002720 Splenomegaly ISO RGD:1345424 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lennox-Gastaut syndrome PMID:25741868|PMID:28492532 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0050562 West syndrome ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant | ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: Infantile spasms | ClinVar Annotator: match by term: West syndrome PMID:18414213|PMID:19786696|PMID:20956790|PMID:23550958|PMID:23708187|PMID:23934111|PMID:23935176|PMID:25326635|PMID:25326637|PMID:25459969|PMID:25741868|PMID:25772804|PMID:26283219|PMID:26291284|PMID:26467025|PMID:26645390|PMID:26648591|PMID:26993267|PMID:27159988|PMID:27334371|PMID:27867041|PMID:28065826|PMID:28256214|PMID:28379373|PMID:28492532|PMID:28628100|PMID:28708303|PMID:28947817|PMID:29186148|PMID:29655203|PMID:29844171|PMID:30185235|PMID:30361185|PMID:30776697|PMID:30813884|PMID:30928199|PMID:31054490|PMID:31175295|PMID:31558572|PMID:31995133|PMID:32090326|PMID:32139178|PMID:32400968|PMID:32488064|PMID:32613771|PMID:32651551|PMID:32860008|PMID:33084218|PMID:33818783|PMID:34469436 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1354096 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:15048894|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479388|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20371507|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:23935176|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25995458|PMID:26068938|PMID:26993267|PMID:27491411|PMID:27779742|PMID:27781031|PMID:28379373|PMID:28492532|PMID:29068549|PMID:29100083|PMID:29655203|PMID:30619928|PMID:34782754 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:15048894|PMID:15133511|PMID:16865694|PMID:17021166|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479388|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20371507|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:23935176|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25995458|PMID:26068938|PMID:26993267|PMID:27491411|PMID:27779742|PMID:27781031|PMID:28379373|PMID:28492532|PMID:28709814|PMID:29068549|PMID:29100083|PMID:29655203|PMID:30381472|PMID:30619928|PMID:31054490|PMID:31302675|PMID:31904120|PMID:32400968|PMID:34782754|PMID:35431799 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0050889 non-syndromic intellectual disability ISO RGD:1354096 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Non-syndromic intellectual disability PMID:25741868 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0050952 spastic ataxia ISO RGD:1354096 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1354096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:26350204|PMID:28379373|PMID:28492532 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0060169 benign familial infantile epilepsy ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign familial infantile epilepsy | ClinVar Annotator: match by term: Benign infantile familial convulsions PMID:11326335|PMID:15048894|PMID:17021166|PMID:18479388|PMID:23360469|PMID:25741868|PMID:27781031|PMID:28379373|PMID:28492532|PMID:29215089 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0060170 generalized epilepsy with febrile seizures plus ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Infantile spasm PMID:18414213|PMID:20956790|PMID:23550958|PMID:25741868|PMID:26283219|PMID:26467025|PMID:26645390|PMID:27159988|PMID:27334371|PMID:28065826|PMID:28379373|PMID:28492532|PMID:30361185|PMID:30928199|PMID:31054490|PMID:31175295|PMID:32090326|PMID:32139178|PMID:32488064|PMID:32651551|PMID:32860008|PMID:33084218 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0060578 Noonan syndrome 1 ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:25741868|PMID:28492532 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:1354096 D RGD:7240710 20180130 OMIM 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 | ClinVar Annotator: match by term: Epilepsy of infancy with migrating focal seizures | ClinVar Annotator: match by term: SCN2A-related disorder | ClinVar Annotator: match by term: SCN2A-related generalized epilepsy with febrile seizures plus PMID:11326335|PMID:11738931|PMID:12037327|PMID:15028761|PMID:15048894|PMID:15133511|PMID:16199547|PMID:16865694|PMID:17021166|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18414213|PMID:18479388|PMID:18930999|PMID:19304393|PMID:19400878|PMID:19786696|PMID:20358599|PMID:20371507|PMID:20522430|PMID:20956790|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21439835|PMID:21692795|PMID:21719429|PMID:22029951|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23360469|PMID:23550958|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23934111|PMID:23935176|PMID:24579881|PMID:24650168|PMID:24876116|PMID:25131622|PMID:25326635|PMID:25326637|PMID:25459969|PMID:25492405|PMID:25533962|PMID:25741868|PMID:25772804|PMID:25937001|PMID:26068938|PMID:26283219|PMID:26291284|PMID:26467025|PMID:26645390|PMID:26648591|PMID:26680202|PMID:26689363|PMID:26993267|PMID:27159988|PMID:27328862|PMID:27334371|PMID:27353043|PMID:27491411|PMID:27779742|PMID:27781031|PMID:27824329|PMID:27867041|PMID:28065826|PMID:28087622|PMID:28096396|PMID:28135719|PMID:28183995|PMID:28256214|PMID:28379373|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28708303|PMID:28709814|PMID:28947817|PMID:29068549|PMID:29100083|PMID:29186148|PMID:29215089|PMID:29358611|PMID:29389947|PMID:29635106|PMID:29655203|PMID:29691040|PMID:29720203|PMID:29844171|PMID:29852413|PMID:30109124|PMID:30165711|PMID:30361185|PMID:30381472|PMID:30415926|PMID:30552426|PMID:30564305|PMID:30619928|PMID:30813884|PMID:30928199|PMID:31054490|PMID:31175295|PMID:31302675|PMID:31487502|PMID:31558572|PMID:31904120|PMID:31924505|PMID:32090326|PMID:32139178|PMID:32400968|PMID:32488064|PMID:32651551|PMID:32750235|PMID:32860008|PMID:32893078|PMID:33084218|PMID:33278787|PMID:33818783|PMID:34055682|PMID:34156984|PMID:34469436|PMID:34782754|PMID:34894057|PMID:35431799|PMID:9536098 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0080422 Dravet syndrome ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant migrating partial seizures of infancy PMID:25741868 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:23935176|PMID:25741868|PMID:26648591|PMID:26993267|PMID:27867041|PMID:28379373|PMID:28492532|PMID:32400968 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy PMID:25741868|PMID:28492532 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:1354096 D RGD:7240710 20180130 OMIM 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3 | ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 PMID:11326335|PMID:11371648|PMID:11738931|PMID:12243921|PMID:12610651|PMID:15048894|PMID:15133511|PMID:15301839|PMID:15316014|PMID:16122630|PMID:16199547|PMID:16865694|PMID:16884893|PMID:17021166|PMID:17347258|PMID:17386050|PMID:17467289|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18379388|PMID:18414213|PMID:18479388|PMID:18930999|PMID:19304393|PMID:19400878|PMID:19702560|PMID:19783390|PMID:19786696|PMID:20358599|PMID:20371507|PMID:20522430|PMID:20869590|PMID:20956790|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:21893419|PMID:22029951|PMID:22495306|PMID:22581653|PMID:22591750|PMID:22677033|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23195492|PMID:23360469|PMID:23550958|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23758435|PMID:23849776|PMID:23934111|PMID:23935176|PMID:24579881|PMID:24650168|PMID:24659627|PMID:24848745|PMID:24876116|PMID:25131622|PMID:25156649|PMID:25232683|PMID:25326635|PMID:25326637|PMID:25459969|PMID:25473036|PMID:25492405|PMID:25533962|PMID:25640679|PMID:25741868|PMID:25772804|PMID:25818041|PMID:25849321|PMID:25937001|PMID:25969726|PMID:25982755|PMID:26068938|PMID:26283219|PMID:26291284|PMID:2635020|PMID:26350204|PMID:26467025|PMID:26555645|PMID:26633542|PMID:26637798|PMID:26645390|PMID:26648591|PMID:26993267|PMID:27153334|PMID:27159988|PMID:27290639|PMID:27328862|PMID:27334371|PMID:27353043|PMID:27491411|PMID:27652284|PMID:27734276|PMID:27779742|PMID:27781028|PMID:27781031|PMID:27824329|PMID:27864847|PMID:27867041|PMID:28065826|PMID:28087622|PMID:28133863|PMID:28135719|PMID:28166811|PMID:28191889|PMID:28254201|PMID:28256214|PMID:28263302|PMID:28379373|PMID:28492532|PMID:28518218|PMID:28554332|PMID:28628100|PMID:28708303|PMID:28709814|PMID:28735751|PMID:28817111|PMID:28837158|PMID:28867142|PMID:28947817|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29186148|PMID:29215089|PMID:29314583|PMID:29358611|PMID:29429461|PMID:29625812|PMID:29635106|PMID:29655203|PMID:29691040|PMID:29720203|PMID:29760947|PMID:29844171|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30185235|PMID:30314295|PMID:30361185|PMID:30381472|PMID:30415926|PMID:30564305|PMID:30619928|PMID:30776697|PMID:30859550|PMID:30928199|PMID:31054490|PMID:31144778|PMID:31175295|PMID:31302675|PMID:31487502|PMID:31526516|PMID:31558572|PMID:31904120|PMID:31995133|PMID:32090326|PMID:32139178|PMID:32400968|PMID:32488064|PMID:32603808|PMID:32613771|PMID:32651551|PMID:32695065|PMID:32725632|PMID:32750235|PMID:32860008|PMID:33000761|PMID:33004838|PMID:33084218|PMID:33240318|PMID:33278787|PMID:33394222|PMID:33779092|PMID:33818783|PMID:34015165|PMID:34055682|PMID:34469436|PMID:34782754|PMID:34894057|PMID:3508699|PMID:35431799|PMID:6660252|PMID:9536098 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0090056 dystonia 12 ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia 12 PMID:25741868 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0111112 nephronophthisis 1 ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0111295 generalized epilepsy with febrile seizures plus 7 ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:15048894|PMID:15133511|PMID:16865694|PMID:17021166|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479388|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20371507|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:23935176|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25995458|PMID:26068938|PMID:26993267|PMID:27491411|PMID:27779742|PMID:27781031|PMID:28379373|PMID:28492532|PMID:28709814|PMID:29068549|PMID:29100083|PMID:29655203|PMID:30381472|PMID:30619928|PMID:31054490|PMID:31302675|PMID:31904120|PMID:32400968|PMID:34782754|PMID:35431799 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:1059 intellectual disability ISO RGD:1354096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency PMID:25741868|PMID:26993267|PMID:28379373|PMID:28492532 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:10969 hemiplegia ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemiplegia/hemiparesis PMID:25741868 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:12712 nephronophthisis ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:12849 autistic disorder ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:14264 benign neonatal seizures ISO RGD:1354096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Benign Neonatal Epilepsy PMID:20371507|PMID:25741868|PMID:27779742|PMID:28379373|PMID:28492532|PMID:29100083|PMID:30619928|PMID:31904120|PMID:35431799 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign familial neonatal-infantile seizures | ClinVar Annotator: match by term: Benign infantile familial convulsions PMID:15048894|PMID:18479388|PMID:23935176|PMID:25741868|PMID:27781031|PMID:28379373|PMID:28492532|PMID:29215089|PMID:6660252 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial neonatal seizures PMID:15048894|PMID:15133511|PMID:16865694|PMID:17021166|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18414213|PMID:18479388|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20371507|PMID:20522430|PMID:20956790|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23550958|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23935176|PMID:24579881|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26068938|PMID:26283219|PMID:26291284|PMID:26467025|PMID:26645390|PMID:26993267|PMID:27159988|PMID:27334371|PMID:27491411|PMID:27779742|PMID:27781031|PMID:28065826|PMID:28379373|PMID:28492532|PMID:28709814|PMID:29068549|PMID:29100083|PMID:29358611|PMID:29655203|PMID:30361185|PMID:30381472|PMID:30415926|PMID:30619928|PMID:30928199|PMID:31054490|PMID:31175295|PMID:31302675|PMID:31904120|PMID:32090326|PMID:32139178|PMID:32400968|PMID:32488064|PMID:32651551|PMID:32860008|PMID:33084218|PMID:34782754|PMID:35431799 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:1826 epilepsy ISO RGD:1354096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:11326335|PMID:15048894|PMID:17021166|PMID:18414213|PMID:23360469|PMID:23708187|PMID:25326635|PMID:25741868|PMID:26291284|PMID:26645390|PMID:26993267|PMID:27781031|PMID:28379373|PMID:28492532|PMID:29215089|PMID:29844171|PMID:30859550|PMID:31558572|PMID:33818783 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:2234 focal epilepsy ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal epilepsy PMID:25741868 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:3312 bipolar disorder ISO RGD:1354096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1354096 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:28492532|PMID:29358611 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:630 genetic disease ISO RGD:1354096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11371648|PMID:11738931|PMID:12037327|PMID:12620097|PMID:15048894|PMID:15301839|PMID:16122630|PMID:17576681|PMID:18414213|PMID:19702560|PMID:19783390|PMID:19786696|PMID:20869590|PMID:20956790|PMID:21439835|PMID:22029951|PMID:22495306|PMID:22581653|PMID:22591750|PMID:23020937|PMID:23195492|PMID:23603762|PMID:23708187|PMID:23849776|PMID:23935176|PMID:24579881|PMID:24650168|PMID:25131622|PMID:25156649|PMID:25326637|PMID:25473036|PMID:25741868|PMID:25818041|PMID:25937001|PMID:26291284|PMID:26467025|PMID:26555645|PMID:26645390|PMID:26680202|PMID:26689363|PMID:26993267|PMID:27328862|PMID:27353043|PMID:27824329|PMID:28087622|PMID:28096396|PMID:28183995|PMID:28191889|PMID:28256214|PMID:28263302|PMID:28379373|PMID:28492532|PMID:28518218|PMID:28735751|PMID:28947817|PMID:29100083|PMID:29691040|PMID:29852413|PMID:30415926|PMID:30564305|PMID:30619928|PMID:31054490|PMID:31302675|PMID:32090326|PMID:32400968|PMID:33004838|PMID:34156984|PMID:34469436|PMID:9536098 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1354096 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:1354096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:18414213|PMID:20956790|PMID:23550958|PMID:23708187|PMID:25326635|PMID:25741868|PMID:26283219|PMID:26291284|PMID:26467025|PMID:26645390|PMID:26993267|PMID:27159988|PMID:27334371|PMID:27864847|PMID:28065826|PMID:28379373|PMID:28492532|PMID:29844171|PMID:30361185|PMID:30928199|PMID:31054490|PMID:31175295|PMID:31558572|PMID:32090326|PMID:32139178|PMID:32488064|PMID:32651551|PMID:32860008|PMID:33084218|PMID:33818783 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:9001870 Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteoporosis, childhood- or juvenile-onset, with developmental delay PMID:25741868 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1354096 D RGD:7240710 20200722 OMIM 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1354096 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Episodic ataxia, type 9 PMID:11326335|PMID:11371648|PMID:12243921|PMID:12620097|PMID:15028761|PMID:15048894|PMID:15301839|PMID:16199547|PMID:17021166|PMID:17467289|PMID:18379388|PMID:18414213|PMID:18479388|PMID:19783390|PMID:19786696|PMID:20371507|PMID:20869590|PMID:20956790|PMID:22677033|PMID:23360469|PMID:23550958|PMID:23708187|PMID:23758435|PMID:23849776|PMID:23934111|PMID:23935176|PMID:25326635|PMID:25326637|PMID:25459969|PMID:25533962|PMID:25741868|PMID:25772804|PMID:25818041|PMID:25849321|PMID:25937001|PMID:26283219|PMID:26291284|PMID:26467025|PMID:26645390|PMID:26648591|PMID:26993267|PMID:27159988|PMID:27328862|PMID:27334371|PMID:27779742|PMID:27781031|PMID:27824329|PMID:27867041|PMID:28065826|PMID:28135719|PMID:28256214|PMID:28263302|PMID:28379373|PMID:28492532|PMID:28628100|PMID:28708303|PMID:28947817|PMID:29100083|PMID:29186148|PMID:29215089|PMID:29358611|PMID:29655203|PMID:29691040|PMID:29844171|PMID:29852413|PMID:30144217|PMID:30165711|PMID:30185235|PMID:30361185|PMID:30552426|PMID:30564305|PMID:30619928|PMID:30776697|PMID:30813884|PMID:30859550|PMID:30928199|PMID:31054490|PMID:31175295|PMID:31302675|PMID:31558572|PMID:31904120|PMID:31924505|PMID:31995133|PMID:32090326|PMID:32139178|PMID:32400968|PMID:32488064|PMID:32613771|PMID:32651551|PMID:32750235|PMID:32860008|PMID:32893078|PMID:33084218|PMID:33818783|PMID:34055682|PMID:34469436|PMID:3508699|PMID:35431799 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:9007722 Myoclonus ISO RGD:1354096 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Myoclonus 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:9007956 Febrile Seizures ISO RGD:1354096 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Febrile seizures | ClinVar Annotator: match by term: febrile convulsion PMID:25741868|PMID:28492532 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1354096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:28492532|PMID:32581362 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:9008582 Developmental Disease ISO RGD:1354096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:28379373|PMID:28492532|PMID:29655203|PMID:29852413|PMID:30564305 11833289 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:963 episodic ataxia ISO RGD:1354096 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary episodic ataxia PMID:12037327|PMID:20956790|PMID:25326637|PMID:26993267|PMID:27353043 11833326 REV1 REV1 DNA directed polymerase gene DOID:630 genetic disease ISO RGD:1315491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833367 VPS29 VPS29 retromer complex component gene DOID:630 genetic disease ISO RGD:1318040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833397 PPP1R11 protein phosphatase 1 regulatory inhibitor subunit 11 gene DOID:11372 megacolon ISO RGD:1350582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11833397 PPP1R11 protein phosphatase 1 regulatory inhibitor subunit 11 gene DOID:630 genetic disease ISO RGD:1350582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833404 TRIM21 tripartite motif containing 21 gene DOID:0080773 delta beta-thalassemia ISO RGD:1345175 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11833404 TRIM21 tripartite motif containing 21 gene DOID:630 genetic disease ISO RGD:1345175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833417 TMPRSS4 transmembrane serine protease 4 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1312821 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11833417 TMPRSS4 transmembrane serine protease 4 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1312821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11833417 TMPRSS4 transmembrane serine protease 4 gene DOID:0080600 COVID-19 ISO RGD:1312821 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:32404436 11833417 TMPRSS4 transmembrane serine protease 4 gene DOID:0080690 RASopathy ISO RGD:1312821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11833417 TMPRSS4 transmembrane serine protease 4 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1312821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 11833417 TMPRSS4 transmembrane serine protease 4 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1312821 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11833417 TMPRSS4 transmembrane serine protease 4 gene DOID:0111971 immunodeficiency 18 ISO RGD:1312821 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11833417 TMPRSS4 transmembrane serine protease 4 gene DOID:0111972 immunodeficiency 19 ISO RGD:1312821 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11833417 TMPRSS4 transmembrane serine protease 4 gene DOID:0111973 immunodeficiency 17 ISO RGD:1312821 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11833417 TMPRSS4 transmembrane serine protease 4 gene DOID:1059 intellectual disability ISO RGD:1312821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11833417 TMPRSS4 transmembrane serine protease 4 gene DOID:630 genetic disease ISO RGD:1312821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833417 TMPRSS4 transmembrane serine protease 4 gene DOID:9001488 Human Influenza ISO RGD:1312821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26889029 11833417 TMPRSS4 transmembrane serine protease 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1312821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11833417 TMPRSS4 transmembrane serine protease 4 gene DOID:9007661 Dwarfism ISO RGD:1312821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11833443 GPR142 G protein-coupled receptor 142 gene DOID:630 genetic disease ISO RGD:1352818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833450 RBM28 RNA binding motif protein 28 gene DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome ISO RGD:1322736 D RGD:7240710 20180130 OMIM 11833450 RBM28 RNA binding motif protein 28 gene DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome ISO RGD:1322736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANE syndrome PMID:18439547|PMID:25741868 11833450 RBM28 RNA binding motif protein 28 gene DOID:10907 microcephaly ISO RGD:1322736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11833450 RBM28 RNA binding motif protein 28 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11833450 RBM28 RNA binding motif protein 28 gene DOID:630 genetic disease ISO RGD:1322736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11833473 BMP2K BMP2 inducible kinase gene DOID:630 genetic disease ISO RGD:1604611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833473 BMP2K BMP2 inducible kinase gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1604611 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11833497 DUS2 dihydrouridine synthase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1603040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11833497 DUS2 dihydrouridine synthase 2 gene DOID:630 genetic disease ISO RGD:1603040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833519 DBH dopamine beta-hydroxylase gene DOID:0050771 pheochromocytoma ISO RGD:736659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22569243 11833519 DBH dopamine beta-hydroxylase gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:736659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 11833519 DBH dopamine beta-hydroxylase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:736659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11833519 DBH dopamine beta-hydroxylase gene DOID:0080324 tuberous sclerosis 1 ISO RGD:736659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11833519 DBH dopamine beta-hydroxylase gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:736659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11833519 DBH dopamine beta-hydroxylase gene DOID:0081097 Rafiq syndrome ISO RGD:736659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11833519 DBH dopamine beta-hydroxylase gene DOID:0090145 dopamine beta-hydroxylase deficiency ISO RGD:736659 D RGD:7240710 20180130 OMIM 11833519 DBH dopamine beta-hydroxylase gene DOID:0090145 dopamine beta-hydroxylase deficiency ISO RGD:736659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dopamine beta-hydroxylase deficiency PMID:11170900|PMID:11857564|PMID:14598346|PMID:15060114|PMID:17576681|PMID:20186791|PMID:21209083|PMID:21471955|PMID:22028891|PMID:23622564|PMID:24033266|PMID:25450229|PMID:25741868|PMID:26762739|PMID:27778639|PMID:28492532|PMID:7715704|PMID:9536098 11833519 DBH dopamine beta-hydroxylase gene DOID:10003 sensorineural hearing loss ISO RGD:736659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 11833519 DBH dopamine beta-hydroxylase gene DOID:10024 migraine with aura ISO RGD:736659 D RGD:9068941 20200609 RGD DNA:insertion, deletion:5' utr:g.-4767+?--4688-? (human) PMID:17095019|REF_RGD_ID:1625569 11833519 DBH dopamine beta-hydroxylase gene DOID:1059 intellectual disability ISO RGD:10460 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex (mouse) PMID:18823370|REF_RGD_ID:2311578 11833519 DBH dopamine beta-hydroxylase gene DOID:10762 portal hypertension ISO RGD:2489 D RGD:9068941 20200609 RGD protein:decreased expression:mesenteric artery (rat) PMID:19968782|REF_RGD_ID:5129480 11833519 DBH dopamine beta-hydroxylase gene DOID:10763 hypertension ISO RGD:2489 D RGD:9068941 20200609 RGD mRNA:increased expression:heart, adrenal gland (rat) PMID:20596792|REF_RGD_ID:5129234 11833519 DBH dopamine beta-hydroxylase gene DOID:10763 hypertension resistance ISO RGD:736659 D RGD:9068941 20200609 RGD DNA:polymorphism:5' utr:g.-2073C>T rs1989787 (human) PMID:20814407|REF_RGD_ID:5129211 11833519 DBH dopamine beta-hydroxylase gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:736659 D RGD:9068941 20200609 RGD DNA:SNP:intron PMID:12707943|REF_RGD_ID:1358584 11833519 DBH dopamine beta-hydroxylase gene DOID:14330 Parkinson's disease ISO RGD:736659 D RGD:9068941 20200609 RGD protein:increased expression:frontal cortex (human) PMID:19276553|REF_RGD_ID:5129515 11833519 DBH dopamine beta-hydroxylase gene DOID:14330 Parkinson's disease susceptibility ISO RGD:736659 D RGD:9068941 20200609 RGD DNA:snp:5' utr:g.-1021C>T (human) PMID:14991826|REF_RGD_ID:1358583 11833519 DBH dopamine beta-hydroxylase gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11833519 DBH dopamine beta-hydroxylase gene DOID:1574 alcohol use disorder ISO RGD:736659 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:g.444G>A (human) PMID:16252068|REF_RGD_ID:1625571 11833519 DBH dopamine beta-hydroxylase gene DOID:1574 alcohol use disorder no_association ISO RGD:736659 D RGD:9068941 20200609 RGD DNA:polymorphism:5' utr:g.-1021C>T (human) PMID:16133787|REF_RGD_ID:1625572 11833519 DBH dopamine beta-hydroxylase gene DOID:1596 depressive disorder ISO RGD:2489 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex (rat) PMID:19120095|REF_RGD_ID:5129527 11833519 DBH dopamine beta-hydroxylase gene DOID:2316 brain ischemia ISO RGD:2489 D RGD:9068941 20200609 RGD protein:decreased expression:forebrain (rat) PMID:18356740|REF_RGD_ID:5129691 11833519 DBH dopamine beta-hydroxylase gene DOID:3652 Leigh disease ISO RGD:736659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11833519 DBH dopamine beta-hydroxylase gene DOID:630 genetic disease ISO RGD:736659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11833519 DBH dopamine beta-hydroxylase gene DOID:684 hepatocellular carcinoma ISO RGD:736659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11833519 DBH dopamine beta-hydroxylase gene DOID:769 neuroblastoma ISO RGD:736659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25174395 11833519 DBH dopamine beta-hydroxylase gene DOID:9001109 Anorexia ISO RGD:2489 D RGD:9068941 20200609 RGD PMID:20554938|REF_RGD_ID:5129235 11833519 DBH dopamine beta-hydroxylase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2489 D RGD:9068941 20200609 RGD mRNA:decreased expression:superior mesenteric artery (rat) PMID:18457899|REF_RGD_ID:5129683 11833519 DBH dopamine beta-hydroxylase gene DOID:9004890 Paranoid Disorders ISO RGD:736659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10673769|PMID:12555232|PMID:17157269 11833519 DBH dopamine beta-hydroxylase gene DOID:9005166 Contusions ISO RGD:2489 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland (rat) PMID:18987458|REF_RGD_ID:5129532 11833519 DBH dopamine beta-hydroxylase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2489 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:adrenal gland (rat) PMID:16396986|REF_RGD_ID:5130724 11833519 DBH dopamine beta-hydroxylase gene DOID:9006024 Hypotension ISO RGD:10460 D RGD:9068941 20200609 RGD PMID:12969876|REF_RGD_ID:5129693 11833535 KLHL13 kelch like family member 13 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11833535 KLHL13 kelch like family member 13 gene DOID:12849 autistic disorder ISO RGD:1342476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11833535 KLHL13 kelch like family member 13 gene DOID:630 genetic disease ISO RGD:1342476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833557 HMG20B high mobility group 20B gene DOID:630 genetic disease ISO RGD:1347672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833557 HMG20B high mobility group 20B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11833573 ZNF563 zinc finger protein 563 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1350383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11833573 ZNF563 zinc finger protein 563 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1350383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11833573 ZNF563 zinc finger protein 563 gene DOID:0111254 glutaric acidemia I ISO RGD:1350383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11833573 ZNF563 zinc finger protein 563 gene DOID:3413 alpha-mannosidosis ISO RGD:1350383 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11833573 ZNF563 zinc finger protein 563 gene DOID:630 genetic disease ISO RGD:1350383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833585 STAC3 SH3 and cysteine rich domain 3 gene DOID:0060346 Native American myopathy ISO RGD:1319045 D RGD:7240710 20180130 OMIM 11833585 STAC3 SH3 and cysteine rich domain 3 gene DOID:0060346 Native American myopathy ISO RGD:1319045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 13 | ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA PMID:16199547|PMID:17576681|PMID:23736855|PMID:25741868|PMID:28411587|PMID:28492532|PMID:28777491|PMID:30168660|PMID:31219695|PMID:32492370|PMID:9536098 11833585 STAC3 SH3 and cysteine rich domain 3 gene DOID:0080600 COVID-19 ISO RGD:1319045 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11833585 STAC3 SH3 and cysteine rich domain 3 gene DOID:630 genetic disease ISO RGD:1319045 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28411587|PMID:28492532|PMID:28777491|PMID:31219695 11833585 STAC3 SH3 and cysteine rich domain 3 gene DOID:6846 familial melanoma ISO RGD:1319045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 11833585 STAC3 SH3 and cysteine rich domain 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319045 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11833585 STAC3 SH3 and cysteine rich domain 3 gene DOID:9005369 Hepatomegaly ISO RGD:1319045 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 11833585 STAC3 SH3 and cysteine rich domain 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1319045 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 11833605 STK32B serine/threonine kinase 32B gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1314640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 11833605 STK32B serine/threonine kinase 32B gene DOID:2843 long QT syndrome ISO RGD:1314640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11833605 STK32B serine/threonine kinase 32B gene DOID:630 genetic disease ISO RGD:1314640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833605 STK32B serine/threonine kinase 32B gene DOID:6678 tooth and nail syndrome ISO RGD:1314640 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:14630905|PMID:28492532|PMID:9742121 11833627 CCDC153 coiled-coil domain containing 153 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1604184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 11833627 CCDC153 coiled-coil domain containing 153 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1604184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11833627 CCDC153 coiled-coil domain containing 153 gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1604184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:22742743|PMID:28492532 11833627 CCDC153 coiled-coil domain containing 153 gene DOID:0080690 RASopathy ISO RGD:1604184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:22742743|PMID:28492532 11833627 CCDC153 coiled-coil domain containing 153 gene DOID:0110651 long QT syndrome 10 ISO RGD:1604184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11833627 CCDC153 coiled-coil domain containing 153 gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1604184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates PMID:22742743|PMID:28492532 11833627 CCDC153 coiled-coil domain containing 153 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1604184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 11833627 CCDC153 coiled-coil domain containing 153 gene DOID:0111971 immunodeficiency 18 ISO RGD:1604184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 11833627 CCDC153 coiled-coil domain containing 153 gene DOID:0111972 immunodeficiency 19 ISO RGD:1604184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 11833627 CCDC153 coiled-coil domain containing 153 gene DOID:0111973 immunodeficiency 17 ISO RGD:1604184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 11833627 CCDC153 coiled-coil domain containing 153 gene DOID:5419 schizophrenia ISO RGD:1604184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11833627 CCDC153 coiled-coil domain containing 153 gene DOID:630 genetic disease ISO RGD:1604184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833627 CCDC153 coiled-coil domain containing 153 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11833627 CCDC153 coiled-coil domain containing 153 gene DOID:9007661 Dwarfism ISO RGD:1604184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11833654 SSTR2 somatostatin receptor 2 gene DOID:0050773 paraganglioma ISO RGD:1346941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29163802 11833654 SSTR2 somatostatin receptor 2 gene DOID:169 neuroendocrine tumor ISO RGD:1346941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17625444 11833654 SSTR2 somatostatin receptor 2 gene DOID:1793 pancreatic cancer ISO RGD:1346941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15259086|PMID:17625444|PMID:19917848 11833654 SSTR2 somatostatin receptor 2 gene DOID:1824 status epilepticus ISO RGD:1346941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18951627 11833654 SSTR2 somatostatin receptor 2 gene DOID:630 genetic disease ISO RGD:1346941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833654 SSTR2 somatostatin receptor 2 gene DOID:9000998 Brain Injuries ISO RGD:3763 D RGD:9068941 20200609 RGD PMID:11879809|REF_RGD_ID:2325002 11833654 SSTR2 somatostatin receptor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3763 D RGD:9068941 20200609 RGD PMID:7956902|REF_RGD_ID:2325008 11833660 OLFML2A olfactomedin like 2A gene DOID:0080600 COVID-19 ISO RGD:1323220 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11833660 OLFML2A olfactomedin like 2A gene DOID:630 genetic disease ISO RGD:1323220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833660 OLFML2A olfactomedin like 2A gene DOID:684 hepatocellular carcinoma ISO RGD:1323220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11833675 NUP85 nucleoporin 85 gene DOID:0080392 nephrotic syndrome type 17 ISO RGD:1323659 D RGD:7240710 20200610 OMIM 11833675 NUP85 nucleoporin 85 gene DOID:0080392 nephrotic syndrome type 17 ISO RGD:1323659 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 17 PMID:25741868|PMID:28492532|PMID:30179222 11833675 NUP85 nucleoporin 85 gene DOID:630 genetic disease ISO RGD:1323659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11833693 EMILIN2 elastin microfibril interfacer 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1313316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11833693 EMILIN2 elastin microfibril interfacer 2 gene DOID:0110880 holoprosencephaly 4 ISO RGD:1313316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 4 PMID:16199538|PMID:16962354|PMID:17001671|PMID:19431187|PMID:22125506|PMID:28492532 11833693 EMILIN2 elastin microfibril interfacer 2 gene DOID:0111193 facioscapulohumeral muscular dystrophy 2 ISO RGD:1313316 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 PMID:28492532 11833693 EMILIN2 elastin microfibril interfacer 2 gene DOID:1059 intellectual disability ISO RGD:1313316 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11833693 EMILIN2 elastin microfibril interfacer 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1313316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 11833693 EMILIN2 elastin microfibril interfacer 2 gene DOID:630 genetic disease ISO RGD:1313316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833693 EMILIN2 elastin microfibril interfacer 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11833693 EMILIN2 elastin microfibril interfacer 2 gene DOID:9005523 Majeed Syndrome ISO RGD:1313316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Majeed syndrome PMID:15994876|PMID:23087183|PMID:28492532 11833704 PLEKHH3 pleckstrin homology, MyTH4 and FERM domain containing H3 gene DOID:630 genetic disease ISO RGD:1602457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833763 CGGBP1 CGG triplet repeat binding protein 1 gene DOID:630 genetic disease ISO RGD:1317722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833785 LOC100975556 olfactory receptor 2D3 gene DOID:630 genetic disease ISO RGD:1354348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833790 DEPDC4 DEP domain containing 4 gene DOID:630 genetic disease ISO RGD:1349120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833800 ARSK arylsulfatase family member K gene DOID:0060041 autism spectrum disorder ISO RGD:1606445 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11833800 ARSK arylsulfatase family member K gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606445 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11833800 ARSK arylsulfatase family member K gene DOID:12798 mucopolysaccharidosis ISO RGD:1320932 D RGD:9068941 20220825 MouseDO OMIM:252700 11833800 ARSK arylsulfatase family member K gene DOID:630 genetic disease ISO RGD:1606445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833800 ARSK arylsulfatase family member K gene DOID:9000814 Mucopolysaccharidosis X ISO RGD:1606445 D RGD:7240710 20220112 OMIM 11833800 ARSK arylsulfatase family member K gene DOID:9000814 Mucopolysaccharidosis X ISO RGD:1606445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ARSK DEFICIENCY | ClinVar Annotator: match by term: ARYLSULFATASE K DEFICIENCY PMID:34916232 11833800 ARSK arylsulfatase family member K gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11833800 ARSK arylsulfatase family member K gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606445 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11833819 LURAP1 leucine rich adaptor protein 1 gene DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O ISO RGD:1605156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2O PMID:19299310|PMID:20816175|PMID:21447391|PMID:26908613|PMID:27391550|PMID:28492532 11833819 LURAP1 leucine rich adaptor protein 1 gene DOID:630 genetic disease ISO RGD:1605156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833825 LBP lipopolysaccharide binding protein gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1347766 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 11833825 LBP lipopolysaccharide binding protein gene DOID:0050486 exanthem ISO RGD:1347766 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 11833825 LBP lipopolysaccharide binding protein gene DOID:13603 obstructive jaundice ISO RGD:61865 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:25093541|REF_RGD_ID:9685190 11833825 LBP lipopolysaccharide binding protein gene DOID:2234 focal epilepsy ISO RGD:1347766 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11833825 LBP lipopolysaccharide binding protein gene DOID:5082 liver cirrhosis ISO RGD:61865 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:17918268|REF_RGD_ID:2292126 11833825 LBP lipopolysaccharide binding protein gene DOID:630 genetic disease ISO RGD:1347766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833825 LBP lipopolysaccharide binding protein gene DOID:824 periodontitis ISO RGD:61865 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;mRNA:increased expression:gingiva PMID:23730973|REF_RGD_ID:9685198 11833825 LBP lipopolysaccharide binding protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347766 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 11833825 LBP lipopolysaccharide binding protein gene DOID:9002159 Liver Reperfusion Injury ISO RGD:61865 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:12134092|REF_RGD_ID:9685192 11833825 LBP lipopolysaccharide binding protein gene DOID:9002906 Multiple Organ Failure ISO RGD:1347766 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22167001 11833825 LBP lipopolysaccharide binding protein gene DOID:9004484 Sepsis ISO RGD:1347766 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22167001 11833825 LBP lipopolysaccharide binding protein gene DOID:9004657 Weight Gain ISO RGD:1347766 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11833825 LBP lipopolysaccharide binding protein gene DOID:9005930 Endotoxemia ISO RGD:61865 D RGD:9068941 20200609 RGD mRNA:increased expression:hepatocyte PMID:8418776|REF_RGD_ID:9685191 11833825 LBP lipopolysaccharide binding protein gene DOID:9005930 Endotoxemia treatment ISO RGD:1347766 D RGD:9068941 20200609 RGD PMID:8593028|REF_RGD_ID:9685196 11833825 LBP lipopolysaccharide binding protein gene DOID:9005930 Endotoxemia treatment ISO RGD:62157 D RGD:9068941 20200609 RGD PMID:16307218|REF_RGD_ID:9685193 11833825 LBP lipopolysaccharide binding protein gene DOID:9006646 Metabolic Syndrome ISO RGD:1347766 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23349936 11833825 LBP lipopolysaccharide binding protein gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1347766 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11833825 LBP lipopolysaccharide binding protein gene DOID:9007730 Burns ISO RGD:61865 D RGD:9068941 20200609 RGD PMID:12435950|REF_RGD_ID:2313390 11833825 LBP lipopolysaccharide binding protein gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:61865 D RGD:9068941 20200609 RGD protein:increased expression:heart, kidney, liver, lung PMID:22493902|REF_RGD_ID:9685194 11833825 LBP lipopolysaccharide binding protein gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1347766 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 11833825 LBP lipopolysaccharide binding protein gene DOID:9970 obesity ISO RGD:1347766 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23349936 11833825 LBP lipopolysaccharide binding protein gene DOID:9970 obesity treatment ISO RGD:61865 D RGD:9068941 20200609 RGD PMID:19917068|REF_RGD_ID:9685197 11833848 ZNF787 zinc finger protein 787 gene DOID:13501 Moebius syndrome ISO RGD:1603274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 11833848 ZNF787 zinc finger protein 787 gene DOID:630 genetic disease ISO RGD:1603274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833864 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:0060903 thrombosis ISO RGD:1604306 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombus PMID:17110455|PMID:18252229|PMID:25741868|PMID:28492532 11833864 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:0080665 warfarin resistance ISO RGD:1604306 D RGD:7240710 20180130 OMIM 11833864 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:0080665 warfarin resistance ISO RGD:1604306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coumarin resistance PMID:14765194|PMID:15358623|PMID:15883587|PMID:15888487|PMID:16201835|PMID:16270629|PMID:16432637|PMID:16611750|PMID:16676068|PMID:16815313|PMID:16821005|PMID:17031720|PMID:17110455|PMID:17111199|PMID:17329985|PMID:17391071|PMID:17596133|PMID:17989110|PMID:18030307|PMID:18240904|PMID:18252229|PMID:18466099|PMID:18574025|PMID:18629445|PMID:18690342|PMID:18781852|PMID:18855533|PMID:18950464|PMID:19074728|PMID:19077919|PMID:19177029|PMID:19225451|PMID:19270263|PMID:19297219|PMID:19794411|PMID:19874474|PMID:20020283|PMID:20128861|PMID:20203262|PMID:20376629|PMID:20555338|PMID:20585834|PMID:20833980|PMID:21057703|PMID:21110013|PMID:21148049|PMID:21176721|PMID:21273734|PMID:21318593|PMID:21326313|PMID:21636598|PMID:21981797|PMID:22075505|PMID:22248286|PMID:22534826|PMID:22549502|PMID:22571356|PMID:22592842|PMID:22920394|PMID:22990331|PMID:22992668|PMID:23016521|PMID:23104259|PMID:23159229|PMID:23183958|PMID:23279643|PMID:23299853|PMID:23423913|PMID:23602689|PMID:23774101|PMID:23932037|PMID:23990957|PMID:24019055|PMID:24224579|PMID:24474498|PMID:24728385|PMID:24919870|PMID:25001883|PMID:25026456|PMID:25244877|PMID:25521356|PMID:25741868|PMID:25769357|PMID:25989350|PMID:26223945|PMID:26257249|PMID:26433837|PMID:26445138|PMID:26739746|PMID:26777610|PMID:26984978|PMID:26996562|PMID:27121899|PMID:27262824|PMID:27488176|PMID:27581200|PMID:27617219|PMID:27703968|PMID:27938396|PMID:28033245|PMID:28049362|PMID:28262345|PMID:28492532|PMID:28689179|PMID:29054760|PMID:29432897|PMID:29577257|PMID:30207196|PMID:30983536|PMID:31653973 11833864 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:0080666 warfarin sensitivity ISO RGD:1604306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Warfarin sensitivity PMID:14765194|PMID:15358623|PMID:15883587|PMID:15888487|PMID:16201835|PMID:16270629|PMID:16432637|PMID:16611750|PMID:16676068|PMID:16815313|PMID:16821005|PMID:17031720|PMID:17110455|PMID:17111199|PMID:17329985|PMID:17391071|PMID:17596133|PMID:17989110|PMID:18030307|PMID:18240904|PMID:18252229|PMID:18466099|PMID:18574025|PMID:18629445|PMID:18690342|PMID:18781852|PMID:18855533|PMID:18950464|PMID:19074728|PMID:19077919|PMID:19177029|PMID:19225451|PMID:19270263|PMID:19297219|PMID:19794411|PMID:19874474|PMID:20020283|PMID:20128861|PMID:20203262|PMID:20376629|PMID:20555338|PMID:20585834|PMID:20833980|PMID:21057703|PMID:21110013|PMID:21148049|PMID:21176721|PMID:21273734|PMID:21318593|PMID:21326313|PMID:21636598|PMID:21981797|PMID:22075505|PMID:22248286|PMID:22534826|PMID:22549502|PMID:22571356|PMID:22592842|PMID:22920394|PMID:22990331|PMID:22992668|PMID:23016521|PMID:23104259|PMID:23159229|PMID:23183958|PMID:23279643|PMID:23299853|PMID:23423913|PMID:23602689|PMID:23774101|PMID:23932037|PMID:23990957|PMID:24019055|PMID:24224579|PMID:24474498|PMID:24728385|PMID:24919870|PMID:25001883|PMID:25026456|PMID:25244877|PMID:25521356|PMID:25741868|PMID:25769357|PMID:25989350|PMID:26223945|PMID:26257249|PMID:26433837|PMID:26445138|PMID:26739746|PMID:26777610|PMID:26984978|PMID:26996562|PMID:27121899|PMID:27262824|PMID:27488176|PMID:27581200|PMID:27617219|PMID:27703968|PMID:27938396|PMID:28033245|PMID:28049362|PMID:28262345|PMID:28492532|PMID:28689179|PMID:29054760|PMID:29432897|PMID:29577257|PMID:30207196|PMID:30983536|PMID:31653973 11833864 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1604306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11833864 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 ISO RGD:1604306 D RGD:7240710 20180130 OMIM 11833864 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 ISO RGD:1604306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitamin K-dependent clotting factors, combined deficiency of, type 2 PMID:11154138|PMID:14765194|PMID:15358623|PMID:15883587|PMID:16270629|PMID:16270630|PMID:16611750|PMID:16676068|PMID:16879214|PMID:16890578|PMID:17049586|PMID:17110455|PMID:17189218|PMID:18252229|PMID:18315553|PMID:18466099|PMID:19344422|PMID:20128861|PMID:20653676|PMID:21127708|PMID:21326313|PMID:21635147|PMID:22349464|PMID:22992668|PMID:23039877|PMID:23208322|PMID:23990957|PMID:24019055|PMID:24838629|PMID:25084205|PMID:25126975|PMID:25594941|PMID:25741868|PMID:28492532 11833864 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:1247 blood coagulation disease ISO RGD:1604306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19141161 11833864 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:178 vascular disease ISO RGD:1604306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16549638 11833864 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:9000185 Coumarin Sensitivity ISO RGD:1604306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: COUMARIN SENSITIVITY PMID:14765194|PMID:15358623|PMID:15883587|PMID:15888487|PMID:16201835|PMID:16270629|PMID:16432637|PMID:16611750|PMID:16676068|PMID:16815313|PMID:16821005|PMID:17031720|PMID:17110455|PMID:17111199|PMID:17329985|PMID:17391071|PMID:17596133|PMID:17989110|PMID:18030307|PMID:18240904|PMID:18252229|PMID:18466099|PMID:18574025|PMID:18629445|PMID:18690342|PMID:18781852|PMID:18855533|PMID:18950464|PMID:19074728|PMID:19077919|PMID:19177029|PMID:19225451|PMID:19270263|PMID:19297219|PMID:19794411|PMID:19874474|PMID:20020283|PMID:20128861|PMID:20203262|PMID:20376629|PMID:20555338|PMID:20585834|PMID:20833980|PMID:21057703|PMID:21110013|PMID:21148049|PMID:21176721|PMID:21273734|PMID:21318593|PMID:21326313|PMID:21636598|PMID:21981797|PMID:22075505|PMID:22248286|PMID:22534826|PMID:22549502|PMID:22571356|PMID:22592842|PMID:22920394|PMID:22990331|PMID:22992668|PMID:23016521|PMID:23104259|PMID:23159229|PMID:23183958|PMID:23279643|PMID:23299853|PMID:23423913|PMID:23602689|PMID:23774101|PMID:23932037|PMID:23990957|PMID:24019055|PMID:24224579|PMID:24474498|PMID:24728385|PMID:24919870|PMID:25001883|PMID:25026456|PMID:25244877|PMID:25521356|PMID:25741868|PMID:25769357|PMID:25989350|PMID:26223945|PMID:26257249|PMID:26433837|PMID:26445138|PMID:26739746|PMID:26777610|PMID:26984978|PMID:26996562|PMID:27121899|PMID:27262824|PMID:27488176|PMID:27581200|PMID:27617219|PMID:27703968|PMID:27938396|PMID:28033245|PMID:28049362|PMID:28262345|PMID:28492532|PMID:28689179|PMID:29054760|PMID:29432897|PMID:29577257|PMID:30207196|PMID:30983536|PMID:31653973 11833864 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:9000528 Coronary Disease ISO RGD:1604306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16549638 11833864 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:9000815 Aortic Calcification susceptibility ISO RGD:1303107 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.Y139C (416A>G) (rat) PMID:19884975|REF_RGD_ID:2315841 11833864 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:9003505 Venous Thromboembolism ISO RGD:1604306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Venous thromboembolism PMID:15888487|PMID:18252229|PMID:18574025|PMID:18629445|PMID:18690342|PMID:18950464|PMID:19794411|PMID:19874474|PMID:20376629|PMID:20555338|PMID:20833980|PMID:21057703|PMID:21110013|PMID:21148049|PMID:21318593|PMID:21636598|PMID:22571356|PMID:22592842|PMID:22990331|PMID:22992668|PMID:23016521|PMID:23104259|PMID:23279643|PMID:23299853|PMID:23423913|PMID:23602689|PMID:23774101|PMID:23932037|PMID:24224579|PMID:24474498|PMID:24919870|PMID:25001883|PMID:25244877|PMID:25521356|PMID:25769357|PMID:26445138|PMID:26739746|PMID:26777610|PMID:26984978|PMID:27262824|PMID:27488176|PMID:27581200|PMID:27703968|PMID:28033245|PMID:28049362|PMID:28689179|PMID:29432897|PMID:29577257 11833864 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:9004080 Aortic Rupture ISO RGD:1604306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16549638 11833864 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1604306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26445138 11833864 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:9007096 Stroke ISO RGD:1604306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16549638 11833864 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:9008217 Hemorrhage ISO RGD:1604306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20597268|PMID:26445138 11833884 STYX serine/threonine/tyrosine interacting protein gene DOID:630 genetic disease ISO RGD:1312345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833899 BSN bassoon presynaptic cytomatrix protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 11833899 BSN bassoon presynaptic cytomatrix protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 11833899 BSN bassoon presynaptic cytomatrix protein gene DOID:114 heart disease ISO RGD:735544 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 11833899 BSN bassoon presynaptic cytomatrix protein gene DOID:1826 epilepsy ISO RGD:735544 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11833899 BSN bassoon presynaptic cytomatrix protein gene DOID:630 genetic disease ISO RGD:735544 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11833899 BSN bassoon presynaptic cytomatrix protein gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:735544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11833916 ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B gene DOID:630 genetic disease ISO RGD:1602104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11833916 ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B gene DOID:893 Wilson disease ISO RGD:1602104 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 11833947 CLLU1-AS1 CLLU1 antisense RNA 1 gene DOID:630 genetic disease ISO RGD:1604877 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11833956 SLC25A19 solute carrier family 25 member 19 gene DOID:10907 microcephaly ISO RGD:1343771 D RGD:9068941 20200609 RGD Microcephaly, Amish type, OMIM:607196;DNA:point mutation:exon:G177A PMID:12185364|REF_RGD_ID:1624242 11833956 SLC25A19 solute carrier family 25 member 19 gene DOID:630 genetic disease ISO RGD:1343771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 11833956 SLC25A19 solute carrier family 25 member 19 gene DOID:9004450 Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type) ISO RGD:1343771 D RGD:7240710 20180130 OMIM 11833956 SLC25A19 solute carrier family 25 member 19 gene DOID:9004450 Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type) ISO RGD:1343771 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY | ClinVar Annotator: match by term: Striatal necrosis, bilateral, and progressive polyneuropathy PMID:18414213|PMID:19798730|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31295743|PMID:31506564|PMID:34587972|PMID:35102031 11833956 SLC25A19 solute carrier family 25 member 19 gene DOID:9006375 Amish Lethal Microcephaly ISO RGD:1343771 D RGD:7240710 20180130 OMIM 11833956 SLC25A19 solute carrier family 25 member 19 gene DOID:9006375 Amish Lethal Microcephaly ISO RGD:1343771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amish lethal microcephaly | ClinVar Annotator: match by term: Microcephaly, Amish type | ClinVar Annotator: match by term: THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE) PMID:12185364|PMID:18414213|PMID:19798730|PMID:25741868|PMID:26467025|PMID:28492532 11833988 VPS36 vacuolar protein sorting 36 homolog gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1320260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11833988 VPS36 vacuolar protein sorting 36 homolog gene DOID:1059 intellectual disability ISO RGD:1320260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11833988 VPS36 vacuolar protein sorting 36 homolog gene DOID:630 genetic disease ISO RGD:1320260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11834007 CBX2 chromobox 2 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1342823 D RGD:9068941 20200609 RGD PMID:24885002|REF_RGD_ID:9586732 11834007 CBX2 chromobox 2 gene DOID:0111776 46,XY sex reversal 5 ISO RGD:1342823 D RGD:7240710 20180130 OMIM 11834007 CBX2 chromobox 2 gene DOID:0111776 46,XY sex reversal 5 ISO RGD:1342823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 5 PMID:19361780|PMID:25741868 11834007 CBX2 chromobox 2 gene DOID:14447 gonadal dysgenesis no_association ISO RGD:1342823 D RGD:9068941 20200609 RGD PMID:23219007|REF_RGD_ID:9586730 11834007 CBX2 chromobox 2 gene DOID:1923 disorder of sexual development ISO RGD:1342823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 11834007 CBX2 chromobox 2 gene DOID:630 genetic disease ISO RGD:1342823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11834007 CBX2 chromobox 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1342823 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 11834007 CBX2 chromobox 2 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1342823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 11834026 APOOL apolipoprotein O like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11834026 APOOL apolipoprotein O like gene DOID:12849 autistic disorder ISO RGD:1351827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11834026 APOOL apolipoprotein O like gene DOID:630 genetic disease ISO RGD:1351827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11834045 CPNE4 copine 4 gene DOID:630 genetic disease ISO RGD:1318850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11834045 CPNE4 copine 4 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1318850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 11834045 CPNE4 copine 4 gene DOID:9270 alkaptonuria ISO RGD:1318850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11834070 OTULINL OTU deubiquitinase with linear linkage specificity like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11834101 COLEC11 collectin subfamily member 11 gene DOID:0060575 3MC syndrome 1 ISO RGD:1320152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 11834101 COLEC11 collectin subfamily member 11 gene DOID:0060576 3MC syndrome 2 ISO RGD:1320152 D RGD:7240710 20180130 OMIM 11834101 COLEC11 collectin subfamily member 11 gene DOID:0060576 3MC syndrome 2 ISO RGD:1320152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3MC syndrome 2 PMID:21258343|PMID:2569826|PMID:25741868|PMID:28301481|PMID:28492532|PMID:8933348 11834101 COLEC11 collectin subfamily member 11 gene DOID:0060577 3MC syndrome 3 ISO RGD:1320152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 11834101 COLEC11 collectin subfamily member 11 gene DOID:0111881 Diamond-Blackfan anemia 8 ISO RGD:1320152 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 PMID:28492532 11834101 COLEC11 collectin subfamily member 11 gene DOID:10123 pigmentation disease ISO RGD:1320152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 11834101 COLEC11 collectin subfamily member 11 gene DOID:630 genetic disease ISO RGD:1320152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11834101 COLEC11 collectin subfamily member 11 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 11834130 EEF2K eukaryotic elongation factor 2 kinase gene DOID:0080114 mitochondrial complex III deficiency nuclear type 5 ISO RGD:1351780 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 5 PMID:25741868 11834130 EEF2K eukaryotic elongation factor 2 kinase gene DOID:10652 Alzheimer's disease ISO RGD:1351780 D RGD:9068941 20200609 RGD PMID:16098202|REF_RGD_ID:10401651 11834130 EEF2K eukaryotic elongation factor 2 kinase gene DOID:12849 autistic disorder ISO RGD:1351780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11834130 EEF2K eukaryotic elongation factor 2 kinase gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1351780 D RGD:9068941 20220804 RGD Human cells in mouse model PMID:30522114|REF_RGD_ID:153298964 11834130 EEF2K eukaryotic elongation factor 2 kinase gene DOID:5419 schizophrenia ISO RGD:1351780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11834130 EEF2K eukaryotic elongation factor 2 kinase gene DOID:630 genetic disease ISO RGD:1351780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11834151 SRSF7 serine and arginine rich splicing factor 7 gene DOID:0080690 RASopathy ISO RGD:1316615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11834151 SRSF7 serine and arginine rich splicing factor 7 gene DOID:3883 Lynch syndrome ISO RGD:1316615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11834151 SRSF7 serine and arginine rich splicing factor 7 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1316615 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney (human) PMID:21082031|REF_RGD_ID:11039407 11834151 SRSF7 serine and arginine rich splicing factor 7 gene DOID:630 genetic disease ISO RGD:1316615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11834151 SRSF7 serine and arginine rich splicing factor 7 gene DOID:9002179 Glomerular Hyperfiltration ISO RGD:1316616 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (mouse) PMID:10432394|REF_RGD_ID:1299473 11834167 TBXAS1 thromboxane A synthase 1 gene DOID:0060500 drug allergy ISO RGD:736923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21449675 11834167 TBXAS1 thromboxane A synthase 1 gene DOID:0060903 thrombosis ISO RGD:3826 D RGD:9068941 20200609 RGD PMID:12384182|REF_RGD_ID:1601457 11834167 TBXAS1 thromboxane A synthase 1 gene DOID:0080690 RASopathy ISO RGD:736923 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 11834167 TBXAS1 thromboxane A synthase 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:3826 D RGD:9068941 20200609 RGD PMID:9700944|REF_RGD_ID:1601470 11834167 TBXAS1 thromboxane A synthase 1 gene DOID:0111047 platelet-type bleeding disorder 14 ISO RGD:736923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 14 PMID:25741868|PMID:28492532 11834167 TBXAS1 thromboxane A synthase 1 gene DOID:0112251 Ghosal hematodiaphyseal syndrome ISO RGD:736923 D RGD:7240710 20180130 OMIM 11834167 TBXAS1 thromboxane A synthase 1 gene DOID:0112251 Ghosal hematodiaphyseal syndrome ISO RGD:736923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ghosal hematodiaphyseal dysplasia | ClinVar Annotator: match by term: Ghosal hematodiaphyseal syndrome PMID:17203301|PMID:18264100|PMID:22735388|PMID:25741868|PMID:27156553|PMID:28492532|PMID:33185009|PMID:33595912|PMID:8702713 11834167 TBXAS1 thromboxane A synthase 1 gene DOID:10763 hypertension ISO RGD:3826 D RGD:9068941 20200609 RGD PMID:16192456|REF_RGD_ID:1601439 11834167 TBXAS1 thromboxane A synthase 1 gene DOID:10763 hypertension ISO RGD:3826 D RGD:9068941 20200609 RGD associated with hyperinsulinism PMID:9370383|REF_RGD_ID:1601472 11834167 TBXAS1 thromboxane A synthase 1 gene DOID:10976 membranous glomerulonephritis ISO RGD:3826 D RGD:9068941 20200609 RGD PMID:8982653|REF_RGD_ID:1601473 11834167 TBXAS1 thromboxane A synthase 1 gene DOID:11111 hydronephrosis ISO RGD:3826 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:9261862|REF_RGD_ID:634088 11834167 TBXAS1 thromboxane A synthase 1 gene DOID:2213 hemorrhagic disease ISO RGD:736923 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:28492532 11834167 TBXAS1 thromboxane A synthase 1 gene DOID:2349 arteriosclerosis ISO RGD:3826 D RGD:9068941 20200609 RGD PMID:11331452|REF_RGD_ID:1601459 11834167 TBXAS1 thromboxane A synthase 1 gene DOID:2921 glomerulonephritis ISO RGD:3826 D RGD:9068941 20200609 RGD PMID:10560941|REF_RGD_ID:1601461 11834167 TBXAS1 thromboxane A synthase 1 gene DOID:3454 brain infarction ISO RGD:3826 D RGD:9068941 20200609 RGD PMID:14650360|REF_RGD_ID:1601455 11834167 TBXAS1 thromboxane A synthase 1 gene DOID:3526 cerebral infarction susceptibility ISO RGD:736923 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:19403042|REF_RGD_ID:11059536 11834167 TBXAS1 thromboxane A synthase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11834167 TBXAS1 thromboxane A synthase 1 gene DOID:630 genetic disease ISO RGD:736923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11834167 TBXAS1 thromboxane A synthase 1 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:3826 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver, Kupffer cell: PMID:9262373|REF_RGD_ID:11059607 11834167 TBXAS1 thromboxane A synthase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22919386 11834167 TBXAS1 thromboxane A synthase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:3826 D RGD:9068941 20200609 RGD PMID:15000260|REF_RGD_ID:1601451 11834167 TBXAS1 thromboxane A synthase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:3826 D RGD:9068941 20200609 RGD associated with Cholestasis, Extrahepatic PMID:8680115|REF_RGD_ID:1601475 11834167 TBXAS1 thromboxane A synthase 1 gene DOID:9005930 Endotoxemia ISO RGD:3826 D RGD:9068941 20200609 RGD PMID:15647606|REF_RGD_ID:1601450 11834167 TBXAS1 thromboxane A synthase 1 gene DOID:9477 pulmonary embolism ISO RGD:3826 D RGD:9068941 20200609 RGD PMID:12639842|REF_RGD_ID:1601456 11834184 MROH7 maestro heat like repeat family member 7 gene DOID:630 genetic disease ISO RGD:1605524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11834225 GNG11 G protein subunit gamma 11 gene DOID:3910 lung adenocarcinoma ISO RGD:735931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24366584 11834225 GNG11 G protein subunit gamma 11 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11834225 GNG11 G protein subunit gamma 11 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11834231 PIGU phosphatidylinositol glycan anchor biosynthesis class U gene DOID:2843 long QT syndrome ISO RGD:1352875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11834231 PIGU phosphatidylinositol glycan anchor biosynthesis class U gene DOID:630 genetic disease ISO RGD:1352875 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11834231 PIGU phosphatidylinositol glycan anchor biosynthesis class U gene DOID:9007893 Glycosylphosphatidylinositol Biosynthesis Defect 21 ISO RGD:1352875 D RGD:7240710 20191002 OMIM 11834231 PIGU phosphatidylinositol glycan anchor biosynthesis class U gene DOID:9007893 Glycosylphosphatidylinositol Biosynthesis Defect 21 ISO RGD:1352875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 21 PMID:25741868|PMID:31353022 11834250 WNT3A Wnt family member 3A gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:1317606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:28492532 11834250 WNT3A Wnt family member 3A gene DOID:1459 hypothyroidism ISO RGD:1308057 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus PMID:19233274|REF_RGD_ID:2303791 11834250 WNT3A Wnt family member 3A gene DOID:1540 parathyroid carcinoma ISO RGD:1317606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11834250 WNT3A Wnt family member 3A gene DOID:630 genetic disease ISO RGD:1317606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11834250 WNT3A Wnt family member 3A gene DOID:9004009 Reperfusion Injury ISO RGD:1317606 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23875703 11834250 WNT3A Wnt family member 3A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1317607 D RGD:9068941 20200609 RGD in vitro transformation of transfected C57MG mammary epithelial cell line PMID:8065359|PMID:9419423|REF_RGD_ID:2298848|REF_RGD_ID:2298863 11834250 WNT3A Wnt family member 3A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11834250 WNT3A Wnt family member 3A gene DOID:9970 obesity ISO RGD:1317606 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28242765 11834257 ALG12 ALG12 alpha-1,6-mannosyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:1312492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 11834257 ALG12 ALG12 alpha-1,6-mannosyltransferase gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1312492 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 11834257 ALG12 ALG12 alpha-1,6-mannosyltransferase gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1312492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11834257 ALG12 ALG12 alpha-1,6-mannosyltransferase gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1312492 D RGD:7240710 20180130 OMIM 11834257 ALG12 ALG12 alpha-1,6-mannosyltransferase gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1312492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:11983712|PMID:12093361|PMID:12217961|PMID:12736397|PMID:15639192|PMID:16199547|PMID:16435218|PMID:17506107|PMID:17576681|PMID:25019053|PMID:25326635|PMID:25741868|PMID:28492532|PMID:30266093|PMID:31481313|PMID:33461977|PMID:9536098 11834257 ALG12 ALG12 alpha-1,6-mannosyltransferase gene DOID:10581 metachromatic leukodystrophy ISO RGD:1312492 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 11834257 ALG12 ALG12 alpha-1,6-mannosyltransferase gene DOID:1059 intellectual disability ISO RGD:1312492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11834257 ALG12 ALG12 alpha-1,6-mannosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1312492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 11834257 ALG12 ALG12 alpha-1,6-mannosyltransferase gene DOID:630 genetic disease ISO RGD:1312492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15639192|PMID:25019053|PMID:25741868|PMID:28492532|PMID:31481313 11834257 ALG12 ALG12 alpha-1,6-mannosyltransferase gene DOID:9007661 Dwarfism ISO RGD:1312492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11834270 S1PR1 sphingosine-1-phosphate receptor 1 gene DOID:0080600 COVID-19 ISO RGD:1346165 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD8+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 11834270 S1PR1 sphingosine-1-phosphate receptor 1 gene DOID:10763 hypertension disease_progression ISO RGD:61958 D RGD:9068941 20200609 RGD associated with SHRSP;mRNA,protein:increased expression, decreased expression:kidney (rat) PMID:17938382|REF_RGD_ID:1643008 11834270 S1PR1 sphingosine-1-phosphate receptor 1 gene DOID:1826 epilepsy ISO RGD:1346165 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11834270 S1PR1 sphingosine-1-phosphate receptor 1 gene DOID:305 carcinoma ISO RGD:1346165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11834270 S1PR1 sphingosine-1-phosphate receptor 1 gene DOID:630 genetic disease ISO RGD:1346165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11834270 S1PR1 sphingosine-1-phosphate receptor 1 gene DOID:9000352 Vascular System Injuries ISO RGD:1346165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29609002 11834270 S1PR1 sphingosine-1-phosphate receptor 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1346165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11834270 S1PR1 sphingosine-1-phosphate receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11834270 S1PR1 sphingosine-1-phosphate receptor 1 gene DOID:9002514 Neointima ISO RGD:1346165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29609002 11834270 S1PR1 sphingosine-1-phosphate receptor 1 gene DOID:9003936 Cardiomegaly ISO RGD:61958 D RGD:9068941 20200609 RGD PMID:11549339|REF_RGD_ID:1357201 11834270 S1PR1 sphingosine-1-phosphate receptor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:62251 D RGD:9068941 20200609 RGD PMID:16403835|REF_RGD_ID:1580913 11834270 S1PR1 sphingosine-1-phosphate receptor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1346165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11834270 S1PR1 sphingosine-1-phosphate receptor 1 gene DOID:9269 maple syrup urine disease ISO RGD:1346165 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:0060180 colitis ISO RGD:2906 D RGD:9068941 20200609 RGD PMID:14738862|REF_RGD_ID:7257706 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:0080600 COVID-19 ISO RGD:735299 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:0080600 COVID-19 ISO RGD:735299 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:0080784 urinary tract infection ISO RGD:735300 D RGD:9068941 20200609 RGD PMID:18401338|REF_RGD_ID:7257688 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:735299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:735299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:10457 Legionnaires' disease ISO RGD:735300 D RGD:9068941 20200609 RGD PMID:11254553|REF_RGD_ID:5135252 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:10459 common cold ISO RGD:735300 D RGD:9068941 20200609 RGD PMID:19864593|REF_RGD_ID:5131210 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:10690 mastitis ISO RGD:735299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16041010 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:10763 hypertension ISO RGD:735299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27678262 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:10952 nephritis ISO RGD:2906 D RGD:9068941 20200609 RGD PMID:11313419|REF_RGD_ID:7257685 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:11054 urinary bladder cancer ISO RGD:735299 D RGD:9068941 20200609 RGD DNA:SNP PMID:19252927|REF_RGD_ID:2315930 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:11400 pyelonephritis ISO RGD:735300 D RGD:9068941 20200609 RGD PMID:21814172|REF_RGD_ID:7257675 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:11729 Lyme disease severity ISO RGD:735300 D RGD:9068941 20200609 RGD PMID:12847259|REF_RGD_ID:7257681 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:1205 allergic disease ISO RGD:735299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:12205 dengue disease treatment ISO RGD:735300 D RGD:9068941 20201015 RGD PMID:30098206|REF_RGD_ID:39938828 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:12375 bronchopneumonia disease_progression ISO RGD:735300 D RGD:9068941 20200609 RGD associated with Plague PMID:21356370|REF_RGD_ID:5134954 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:1485 cystic fibrosis ISO RGD:735300 D RGD:9068941 20200609 RGD PMID:20818377|REF_RGD_ID:5135034 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:2154 nephroblastoma ISO RGD:735299 D RGD:9068941 20200609 RGD PMID:17634442|REF_RGD_ID:7257700 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:2986 IgA glomerulonephritis ISO RGD:735299 D RGD:9068941 20200609 RGD DNA:SNPs: :rs4674257, rs4674259 (human) PMID:21214373|REF_RGD_ID:7257677 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:735299 D RGD:9068941 20200609 RGD PMID:12857718|REF_RGD_ID:5135248 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:3213 demyelinating disease ISO RGD:2906 D RGD:9068941 20200609 RGD PMID:19616545|REF_RGD_ID:7257694 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:735299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25257527 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:735300 D RGD:9068941 20200609 RGD PMID:18836137|REF_RGD_ID:5134989 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:4450 renal cell carcinoma ISO RGD:735300 D RGD:9068941 20200609 RGD PMID:16210641|REF_RGD_ID:7257682 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:735299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:552 pneumonia ISO RGD:735299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:559 acute pyelonephritis susceptibility ISO RGD:735299 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1208C>T (human) PMID:22325052|REF_RGD_ID:7207860 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:630 genetic disease ISO RGD:735299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:783 end stage renal disease ISO RGD:735299 D RGD:9068941 20200609 RGD DNA:polymorphism: :1208C>T (human) PMID:23615182|REF_RGD_ID:7257672 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:823 periapical periodontitis ISO RGD:2906 D RGD:9068941 20200609 RGD PMID:22341067|REF_RGD_ID:7257692 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:850 lung disease ISO RGD:735300 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:21330942|REF_RGD_ID:5134955 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:8577 ulcerative colitis ISO RGD:735299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297633 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:9000310 Lung Injury ISO RGD:2906 D RGD:9068941 20200609 RGD PMID:15347560|REF_RGD_ID:7257705 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:735300 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:22791342|REF_RGD_ID:7257674 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:2906 D RGD:9068941 20200609 RGD PMID:19283893|REF_RGD_ID:5129125 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:735300 D RGD:9068941 20200609 RGD PMID:19616545|REF_RGD_ID:7257694 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:9004283 Transplant Rejection ISO RGD:2906 D RGD:9068941 20200609 RGD PMID:15840022|PMID:22882432|REF_RGD_ID:7257683|REF_RGD_ID:7257690 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:9004484 Sepsis ISO RGD:735299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17138957 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:735300 D RGD:9068941 20200609 RGD associated with Pancreatitis PMID:17014919|REF_RGD_ID:7257703 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:9004771 Vascular Remodeling ISO RGD:735299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27678262 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:9005372 Inflammation ISO RGD:2906 D RGD:9068941 20200609 RGD PMID:15516486|REF_RGD_ID:7257704 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:9005372 Inflammation ISO RGD:735300 D RGD:9068941 20200609 RGD PMID:23144964|REF_RGD_ID:7257673 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:9005968 Neuralgia ISO RGD:735299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31432094 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:9006180 WHIM Syndrome 2 ISO RGD:735299 D RGD:7240710 20210728 OMIM 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:9006180 WHIM Syndrome 2 ISO RGD:735299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: WHIM syndrome 2 PMID:24777453|PMID:25741868 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:735300 D RGD:9068941 20200609 RGD PMID:20038794|REF_RGD_ID:7257679 11834276 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:9074 systemic lupus erythematosus severity ISO RGD:735299 D RGD:9068941 20200609 RGD PMID:14596426|REF_RGD_ID:7257684 11834297 HAPSTR1 HUWE1 associated protein modifying stress responses gene DOID:0060174 GABA aminotransferase deficiency ISO RGD:1606021 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency PMID:28492532 11834297 HAPSTR1 HUWE1 associated protein modifying stress responses gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1606021 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 11834297 HAPSTR1 HUWE1 associated protein modifying stress responses gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1606021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 11834297 HAPSTR1 HUWE1 associated protein modifying stress responses gene DOID:5812 MHC class II deficiency ISO RGD:1606021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11834305 KIF5A kinesin family member 5A gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1347916 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:20386726|PMID:25008398|PMID:25741868|PMID:29892902 11834305 KIF5A kinesin family member 5A gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1550437 D RGD:9068941 20200609 RGD mRNA:increased expression:frontal cortex, cerebellum, spinal cord (mouse) PMID:23006449|REF_RGD_ID:12798528 11834305 KIF5A kinesin family member 5A gene DOID:0110069 frontotemporal dementia and/or amyotrophic lateral sclerosis-4 ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 PMID:25741868|PMID:28492532|PMID:32579787 11834305 KIF5A kinesin family member 5A gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:1347916 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U PMID:28492532 11834305 KIF5A kinesin family member 5A gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1347916 D RGD:7240710 20230517 OMIM 11834305 KIF5A kinesin family member 5A gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1347916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 10 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant PMID:12355402|PMID:15452312|PMID:16476820|PMID:16489470|PMID:17576681|PMID:18203753|PMID:18500496|PMID:18853458|PMID:21623771|PMID:22552817|PMID:22714410|PMID:24123792|PMID:24731568|PMID:25008398|PMID:25695920|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26543653|PMID:28362824|PMID:28492532|PMID:28678816|PMID:28708278|PMID:28832565|PMID:29566793|PMID:29892902|PMID:29908077|PMID:29954873|PMID:31211173|PMID:31403080|PMID:31422367|PMID:31475037|PMID:9536098 11834305 KIF5A kinesin family member 5A gene DOID:10283 prostate cancer ISO RGD:1347916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11834305 KIF5A kinesin family member 5A gene DOID:12859 choreatic disease ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paroxysmal dyskinesia PMID:25741868|PMID:28492532 11834305 KIF5A kinesin family member 5A gene DOID:1826 epilepsy ISO RGD:1550437 D RGD:9068941 20200609 RGD PMID:23217743|REF_RGD_ID:12859092 11834305 KIF5A kinesin family member 5A gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1347916 D RGD:9068941 20200609 RGD DNA:snp:intron:c.1717-152C>G (rs1678542) (human) PMID:20508602|REF_RGD_ID:12793067 11834305 KIF5A kinesin family member 5A gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:15452312|PMID:18203753|PMID:18500496|PMID:18853458|PMID:21623771|PMID:25008398|PMID:25695920|PMID:25741868|PMID:26467025|PMID:26543653|PMID:28492532|PMID:28708278|PMID:28832565|PMID:29892902|PMID:31211173|PMID:31403080|PMID:31475037 11834305 KIF5A kinesin family member 5A gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:26467025|PMID:28492532 11834305 KIF5A kinesin family member 5A gene DOID:5214 demyelinating polyneuropathy ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Demyelinating peripheral neuropathy PMID:15452312|PMID:18853458|PMID:25008398|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28832565|PMID:29892902 11834305 KIF5A kinesin family member 5A gene DOID:5419 schizophrenia ISO RGD:1347916 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11834305 KIF5A kinesin family member 5A gene DOID:574 peripheral nervous system disease ISO RGD:1347916 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:18853458|PMID:21623771|PMID:25008398|PMID:25741868 11834305 KIF5A kinesin family member 5A gene DOID:607 paraplegia ISO RGD:1347916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:15452312|PMID:16199547|PMID:16476820|PMID:16489470|PMID:17576681|PMID:18203753|PMID:18500496|PMID:18853458|PMID:21623771|PMID:22552817|PMID:22714410|PMID:24123792|PMID:24731568|PMID:25008398|PMID:25352184|PMID:25640679|PMID:25695920|PMID:25741868|PMID:26374131|PMID:26403765|PMID:26467025|PMID:26543653|PMID:27084214|PMID:27414745|PMID:28362824|PMID:28492532|PMID:28678816|PMID:28708278|PMID:28832565|PMID:29342275|PMID:29566793|PMID:29892902|PMID:29908077|PMID:29954873|PMID:30778698|PMID:31211173|PMID:31403080|PMID:31422367|PMID:31475037|PMID:31612903|PMID:32579787|PMID:32815063|PMID:32888732|PMID:33589474|PMID:9536098 11834305 KIF5A kinesin family member 5A gene DOID:630 genetic disease ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:27957547|PMID:28492532 11834305 KIF5A kinesin family member 5A gene DOID:6846 familial melanoma ISO RGD:1347916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 11834305 KIF5A kinesin family member 5A gene DOID:7148 rheumatoid arthritis ISO RGD:1347916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 11834305 KIF5A kinesin family member 5A gene DOID:7148 rheumatoid arthritis ISO RGD:1347916 D RGD:9068941 20200609 RGD DNA:snps:intron, 3' utr:c.2756-43A>C, c.*776C>T (rs775246, rs775251) (human) PMID:21784728|REF_RGD_ID:12793073 11834305 KIF5A kinesin family member 5A gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1347916 D RGD:9068941 20200609 RGD DNA:snp:intron:c.1717-152C>G (rs1678542) (human) PMID:23378462|REF_RGD_ID:12793072 11834305 KIF5A kinesin family member 5A gene DOID:7596 asbestos-related lung carcinoma susceptibility ISO RGD:1347916 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21231887|REF_RGD_ID:12793066 11834305 KIF5A kinesin family member 5A gene DOID:870 neuropathy ISO RGD:1347916 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:18853458|PMID:21623771|PMID:25008398|PMID:25741868 11834305 KIF5A kinesin family member 5A gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1347916 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease PMID:28492532 11834305 KIF5A kinesin family member 5A gene DOID:9006777 Neonatal Intractable Myoclonus ISO RGD:1347916 D RGD:7240710 20230517 OMIM 11834305 KIF5A kinesin family member 5A gene DOID:9006777 Neonatal Intractable Myoclonus ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: KIF5A-related intractable neonatal myoclonus | ClinVar Annotator: match by term: Myoclonus, intractable, neonatal PMID:18500496|PMID:18853458|PMID:21623771|PMID:22552817|PMID:24215330|PMID:24731568|PMID:25008398|PMID:25741868|PMID:26374131|PMID:26543653|PMID:27414745|PMID:27463701|PMID:28492532|PMID:28678816 11834305 KIF5A kinesin family member 5A gene DOID:9009136 Amyotrophic Lateral Sclerosis Type 25 ISO RGD:1347916 D RGD:7240710 20230517 OMIM 11834305 KIF5A kinesin family member 5A gene DOID:9009136 Amyotrophic Lateral Sclerosis Type 25 ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 25 | ClinVar Annotator: match by term: KIF5A-related amyotrophic lateral sclerosis PMID:17576681|PMID:25741868|PMID:28492532|PMID:29342275|PMID:29566793|PMID:32815063|PMID:9536098 11834338 NT5DC3 5'-nucleotidase domain containing 3 gene DOID:630 genetic disease ISO RGD:1602220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11834356 TXNDC9 thioredoxin domain containing 9 gene DOID:630 genetic disease ISO RGD:1352767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11834365 CHD5 chromodomain helicase DNA binding protein 5 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1317694 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11834365 CHD5 chromodomain helicase DNA binding protein 5 gene DOID:1826 epilepsy ISO RGD:1317694 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:33944996 11834365 CHD5 chromodomain helicase DNA binding protein 5 gene DOID:630 genetic disease ISO RGD:1317694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11834365 CHD5 chromodomain helicase DNA binding protein 5 gene DOID:684 hepatocellular carcinoma ISO RGD:1317694 D RGD:9068941 20210416 RGD mRNA:decreased expression:liver PMID:26517514|REF_RGD_ID:11537550 11834365 CHD5 chromodomain helicase DNA binding protein 5 gene DOID:769 neuroblastoma ISO RGD:1317694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 11834365 CHD5 chromodomain helicase DNA binding protein 5 gene DOID:9002801 Recurrence ISO RGD:1317694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 11834365 CHD5 chromodomain helicase DNA binding protein 5 gene DOID:9003182 Parenti-Mignot Neurodevelopmental Syndrome ISO RGD:1317694 D RGD:7240710 20221116 OMIM 11834365 CHD5 chromodomain helicase DNA binding protein 5 gene DOID:9003182 Parenti-Mignot Neurodevelopmental Syndrome ISO RGD:1317694 D RGD:8554872 20221115 ClinVar ClinVar Annotator: match by term: Parenti-mignot neurodevelopmental syndrome PMID:25741868|PMID:33944996 11834365 CHD5 chromodomain helicase DNA binding protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317694 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33944996 11834365 CHD5 chromodomain helicase DNA binding protein 5 gene DOID:9006186 Harel-Yoon Syndrome ISO RGD:1317694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Harel-Yoon syndrome 11834365 CHD5 chromodomain helicase DNA binding protein 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1317694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:33944996 11834365 CHD5 chromodomain helicase DNA binding protein 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1317694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 11834414 PAH phenylalanine hydroxylase gene DOID:0060041 autism spectrum disorder ISO RGD:735410 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31209396 11834414 PAH phenylalanine hydroxylase gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:735410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital central hypoventilation PMID:14532329 11834414 PAH phenylalanine hydroxylase gene DOID:0090043 dystonia 5 ISO RGD:735410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dystonia 5 PMID:12655546|PMID:1601425|PMID:17630668|PMID:1769645|PMID:19292873|PMID:21147011|PMID:22330942|PMID:23348723|PMID:23430547|PMID:23500595|PMID:24296287|PMID:25596310|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30389586|PMID:32533790|PMID:32860008|PMID:32905092|PMID:33375644|PMID:8116675|PMID:8401510|PMID:8990013 11834414 PAH phenylalanine hydroxylase gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:735410 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A | ClinVar Annotator: match by term: PTS Deficiency PMID:10234516|PMID:10394930|PMID:10598814|PMID:10693064|PMID:10980574|PMID:11161839|PMID:11244681|PMID:11385716|PMID:11708866|PMID:12501224|PMID:12655553|PMID:14722928|PMID:15464430|PMID:16051511|PMID:16198137|PMID:16290003|PMID:17096675|PMID:17502162|PMID:17924342|PMID:17935162|PMID:18294361|PMID:18299955|PMID:21147011|PMID:21307867|PMID:21953985|PMID:22698810|PMID:22917871|PMID:23357515|PMID:23430918|PMID:23500595|PMID:23690520|PMID:23792259|PMID:23842451|PMID:23932990|PMID:23942198|PMID:24350308|PMID:24368688|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26503515|PMID:26542770|PMID:26600521|PMID:26666653|PMID:26982749|PMID:27121329|PMID:27243974|PMID:27469133|PMID:27578510|PMID:27620137|PMID:28492532|PMID:28982351|PMID:29288420|PMID:29499199|PMID:29997390|PMID:30037505|PMID:30050108|PMID:30311390|PMID:30459323|PMID:30648773|PMID:31355225|PMID:31623983|PMID:32668217|PMID:32906206|PMID:33465300|PMID:33677757|PMID:33803550|PMID:7833954|PMID:7981714|PMID:8088845|PMID:8268925|PMID:8533759|PMID:8830172|PMID:8981952|PMID:9012412|PMID:9298832|PMID:9399896|PMID:9429153|PMID:9634518 11834414 PAH phenylalanine hydroxylase gene DOID:1059 intellectual disability ISO RGD:735410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11834414 PAH phenylalanine hydroxylase gene DOID:630 genetic disease ISO RGD:735410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10234516|PMID:10394930|PMID:10408782|PMID:10471838|PMID:10479481|PMID:10495930|PMID:10527663|PMID:10598814|PMID:10679941|PMID:10980574|PMID:11139255|PMID:11161839|PMID:11180595|PMID:11244681|PMID:11326337|PMID:11385716|PMID:11461190|PMID:11461196|PMID:11486900|PMID:11524738|PMID:11581453|PMID:11914042|PMID:11999982|PMID:12173030|PMID:12409276|PMID:12501224|PMID:12640344|PMID:12644360|PMID:12655544|PMID:12655546|PMID:12655548|PMID:12655550|PMID:12655553|PMID:1301187|PMID:1301200|PMID:1301202|PMID:1312992|PMID:1349576|PMID:1355066|PMID:14568534|PMID:14654665|PMID:14722928|PMID:14741196|PMID:15159646|PMID:15171997|PMID:15464430|PMID:15503242|PMID:15557004|PMID:15793771|PMID:1601425|PMID:1609797|PMID:16198137|PMID:16256386|PMID:16290003|PMID:1671768|PMID:1671770|PMID:1672290|PMID:1672294|PMID:1679030|PMID:1682495|PMID:16879198|PMID:17096675|PMID:17502162|PMID:17576681|PMID:17630668|PMID:1769645|PMID:17924342|PMID:17935162|PMID:18294361|PMID:18299955|PMID:18538294|PMID:18590700|PMID:18937047|PMID:18956252|PMID:19036622|PMID:19062537|PMID:19147918|PMID:19292873|PMID:19394257|PMID:1971144|PMID:1971147|PMID:1981599|PMID:1998345|PMID:2006152|PMID:20082265|PMID:2014036|PMID:2018035|PMID:20187763|PMID:20188615|PMID:20301677|PMID:2044609|PMID:20457534|PMID:2071149|PMID:20920871|PMID:20937381|PMID:21147011|PMID:21228398|PMID:21820508|PMID:21871829|PMID:21890392|PMID:21915151|PMID:21937252|PMID:21953985|PMID:22112818|PMID:22330942|PMID:22513348|PMID:22526846|PMID:22763404|PMID:22841515|PMID:22975760|PMID:2309142|PMID:2323773|PMID:23348723|PMID:23357515|PMID:23430547|PMID:23430918|PMID:23500595|PMID:23514811|PMID:23559577|PMID:23716935|PMID:23764561|PMID:23792259|PMID:23932990|PMID:24033266|PMID:24048906|PMID:24130151|PMID:24190797|PMID:24296287|PMID:24301756|PMID:24350308|PMID:24368688|PMID:24401910|PMID:24705691|PMID:24941924|PMID:25087612|PMID:25155776|PMID:25525159|PMID:25596310|PMID:2564729|PMID:25741868|PMID:2575001|PMID:25750018|PMID:26210745|PMID:26322415|PMID:26467025|PMID:26481238|PMID:26503515|PMID:26542770|PMID:26600521|PMID:26666653|PMID:26803807|PMID:26982749|PMID:26990548|PMID:27121329|PMID:27264808|PMID:27469133|PMID:27682710|PMID:28174686|PMID:28492532|PMID:28676969|PMID:2884570|PMID:28851938|PMID:28982351|PMID:29025426|PMID:29288420|PMID:29317692|PMID:29473999|PMID:29499199|PMID:29749107|PMID:29997390|PMID:30037505|PMID:30050108|PMID:3008810|PMID:30311390|PMID:30389586|PMID:30459323|PMID:30487145|PMID:30667134|PMID:30668579|PMID:30747360|PMID:30963030|PMID:31164572|PMID:31355225|PMID:31589614|PMID:31623983|PMID:31980526|PMID:32533790|PMID:32668217|PMID:32778825|PMID:32801363|PMID:32860008|PMID:32905092|PMID:33101986|PMID:33177615|PMID:33375644|PMID:33465300|PMID:33677757|PMID:33980295|PMID:3615198|PMID:7556322|PMID:7726156|PMID:7807961|PMID:7833927|PMID:7981714|PMID:8051931|PMID:8088845|PMID:8097262|PMID:8116675|PMID:8268925|PMID:8320703|PMID:8401510|PMID:8406445|PMID:8445621|PMID:8533759|PMID:8535445|PMID:8632937|PMID:8659548|PMID:8739972|PMID:8825928|PMID:8829656|PMID:8830172|PMID:8831077|PMID:8889590|PMID:8981952|PMID:8990013|PMID:9012412|PMID:9101291|PMID:9298832|PMID:9359039|PMID:9399896|PMID:9429153|PMID:9450897|PMID:9521426|PMID:9536098|PMID:9634518|PMID:9781015|PMID:9843368|PMID:9860305 11834414 PAH phenylalanine hydroxylase gene DOID:9000270 Congenital Central Hypoventilation Syndrome 1 ISO RGD:735410 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Haddad syndrome PMID:14532329 11834414 PAH phenylalanine hydroxylase gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:735410 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:10234516|PMID:10394930|PMID:10598814|PMID:10693064|PMID:11385716|PMID:12655553|PMID:14722928|PMID:16198137|PMID:17096675|PMID:17924342|PMID:17935162|PMID:18294361|PMID:18299955|PMID:21147011|PMID:21307867|PMID:22698810|PMID:23357515|PMID:23500595|PMID:23792259|PMID:23932990|PMID:24350308|PMID:24368688|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26542770|PMID:26600521|PMID:26666653|PMID:27121329|PMID:27243974|PMID:27620137|PMID:28492532|PMID:32906206|PMID:33803550|PMID:7981714|PMID:8268925|PMID:8533759|PMID:8830172|PMID:8981952|PMID:9012412|PMID:9298832|PMID:9399896|PMID:9429153|PMID:9634518 11834414 PAH phenylalanine hydroxylase gene DOID:9007139 Hyperphenylalaninemia, Non-Pku Mild ISO RGD:735410 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: HYPERPHENYLALANINEMIA, NON-PKU MILD PMID:10234516|PMID:10527663|PMID:1301200|PMID:17924342|PMID:18590700|PMID:21871829|PMID:22526846|PMID:25741868|PMID:27469133|PMID:28492532|PMID:8364546|PMID:9450897|PMID:9634518 11834414 PAH phenylalanine hydroxylase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735410 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11834414 PAH phenylalanine hydroxylase gene DOID:9008397 Maternal Phenylketonuria ISO RGD:735410 D RGD:9068941 20200609 RGD PMID:14654659|REF_RGD_ID:1601526 11834414 PAH phenylalanine hydroxylase gene DOID:9008864 POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS ISO RGD:735410 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis PMID:10394930|PMID:11385716|PMID:11524738|PMID:11696894|PMID:12655546|PMID:12655553|PMID:16198137|PMID:16765994|PMID:17924342|PMID:17935162|PMID:18493213|PMID:1971144|PMID:2014036|PMID:21953985|PMID:22763404|PMID:22841515|PMID:23074961|PMID:23357515|PMID:23430918|PMID:23500595|PMID:24350308|PMID:24368688|PMID:2564729|PMID:25741868|PMID:26210745|PMID:26467025|PMID:26542770|PMID:28492532|PMID:29499199|PMID:30963030|PMID:31355225|PMID:8533759|PMID:9101291|PMID:9399896|PMID:9634518|PMID:9781015 11834414 PAH phenylalanine hydroxylase gene DOID:9281 phenylketonuria ISO RGD:735410 D RGD:7240710 20180130 OMIM 11834414 PAH phenylalanine hydroxylase gene DOID:9281 phenylketonuria ISO RGD:735410 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Phenylketonuria PMID:10196714|PMID:10200057|PMID:10234516|PMID:10356314|PMID:10356315|PMID:10394930|PMID:10408782|PMID:10429004|PMID:10471838|PMID:10472529|PMID:10479481|PMID:10484807|PMID:10495930|PMID:10527663|PMID:10541324|PMID:10598814|PMID:10679941|PMID:10685924|PMID:10693064|PMID:10720436|PMID:10767174|PMID:10875932|PMID:10947211|PMID:10980574|PMID:11051201|PMID:11139255|PMID:11142755|PMID:11161825|PMID:11161839|PMID:11180595|PMID:11214902|PMID:11243094|PMID:11244681|PMID:11295882|PMID:11326337|PMID:11328945|PMID:11385716|PMID:1146119|PMID:11461190|PMID:11461196|PMID:11486900|PMID:11524738|PMID:11581453|PMID:11588399|PMID:11678552|PMID:11696894|PMID:11708866|PMID:11914042|PMID:11935335|PMID:11999982|PMID:12126628|PMID:12173030|PMID:12210276|PMID:12409276|PMID:12501224|PMID:12542580|PMID:12554741|PMID:12640344|PMID:12644360|PMID:12649065|PMID:12655544|PMID:12655546|PMID:12655547|PMID:12655548|PMID:12655550|PMID:12655551|PMID:12655552|PMID:12655553|PMID:12655554|PMID:12765842|PMID:12836060|PMID:12905706|PMID:12971421|PMID:1301187|PMID:1301193|PMID:1301200|PMID:1301201|PMID:1301202|PMID:1301947|PMID:1307609|PMID:1312992|PMID:1349566|PMID:1349576|PMID:1355066|PMID:1358789|PMID:1360590|PMID:1363786|PMID:1363837|PMID:1363838|PMID:14654665|PMID:14681498|PMID:14722928|PMID:14726806|PMID:14741196|PMID:15159646|PMID:15171997|PMID:15300621|PMID:15319459|PMID:15459954|PMID:15464430|PMID:15503242|PMID:1555700|PMID:15557004|PMID:15589814|PMID:15633889|PMID:15793771|PMID:15943553|PMID:1601425|PMID:16051511|PMID:1609797|PMID:16143554|PMID:16165389|PMID:16167124|PMID:16176881|PMID:16198137|PMID:16199547|PMID:16253218|PMID:16256386|PMID:16290003|PMID:1639423|PMID:16402341|PMID:16504182|PMID:16545551|PMID:16601866|PMID:1671768|PMID:1671770|PMID:1671810|PMID:1671881|PMID:1672290|PMID:1672294|PMID:16755493|PMID:16765994|PMID:1679030|PMID:1682234|PMID:1682235|PMID:1682495|PMID:16875683|PMID:16879198|PMID:16931086|PMID:17096675|PMID:17221866|PMID:17408607|PMID:17502162|PMID:17513426|PMID:17557229|PMID:17576681|PMID:17627389|PMID:17630668|PMID:1769645|PMID:17846916|PMID:17924342|PMID:17935162|PMID:18247293|PMID:18294361|PMID:18299955|PMID:18321666|PMID:18346471|PMID:18394115|PMID:18447256|PMID:18493213|PMID:18538294|PMID:18590700|PMID:18592473|PMID:18798839|PMID:18937047|PMID:18937293|PMID:18956252|PMID:18985011|PMID:19015950|PMID:19036622|PMID:19062537|PMID:19099685|PMID:19147918|PMID:19292873|PMID:19394257|PMID:19444284|PMID:19609714|PMID:1968617|PMID:1971144|PMID:1971147|PMID:1975096|PMID:1975559|PMID:1978553|PMID:19786003|PMID:1981599|PMID:19913839|PMID:19915519|PMID:19948162|PMID:1997387|PMID:1998345|PMID:20017307|PMID:2006152|PMID:20063067|PMID:20082265|PMID:20123475|PMID:2014036|PMID:20140859|PMID:2014802|PMID:20179079|PMID:2018035|PMID:20187763|PMID:20188615|PMID:20301677|PMID:2035532|PMID:2044609|PMID:20457534|PMID:2063869|PMID:2071149|PMID:20920871|PMID:20937381|PMID:21147011|PMID:21154324|PMID:21228398|PMID:21307867|PMID:21445337|PMID:21462123|PMID:21527427|PMID:2173030|PMID:21811977|PMID:21820508|PMID:21871829|PMID:21890392|PMID:21953985|PMID:22106832|PMID:22112818|PMID:22300847|PMID:22330942|PMID:22333022|PMID:22388642|PMID:22391997|PMID:22513348|PMID:22526846|PMID:22698810|PMID:22763404|PMID:22841515|PMID:22917871|PMID:22921945|PMID:22975760|PMID:22995991|PMID:23062575|PMID:23074961|PMID:2309142|PMID:23220018|PMID:23225039|PMID:2323773|PMID:23271928|PMID:23348723|PMID:23357515|PMID:23430547|PMID:23430859|PMID:23430918|PMID:23500595|PMID:23514811|PMID:23559577|PMID:23690520|PMID:23716935|PMID:23757202|PMID:23764561|PMID:23792259|PMID:23842451|PMID:23856132|PMID:23932990|PMID:23942198|PMID:24033266|PMID:24048906|PMID:24078561|PMID:24130151|PMID:24190797|PMID:24296287|PMID:24301756|PMID:24327145|PMID:24350308|PMID:24368688|PMID:24401910|PMID:24510552|PMID:24510568|PMID:24628256|PMID:24661517|PMID:24667082|PMID:24705691|PMID:24765287|PMID:24789341|PMID:24882081|PMID:24939588|PMID:24941924|PMID:25003100|PMID:25085675|PMID:25087612|PMID:25155776 11834414 PAH phenylalanine hydroxylase gene DOID:9281 phenylketonuria ISO RGD:735410 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Phenylketonuria PMID:25323746|PMID:25333069|PMID:25453233|PMID:25456745|PMID:25525159|PMID:25550961|PMID:25551302|PMID:25563416|PMID:25596310|PMID:2564729|PMID:2574002|PMID:2574153|PMID:25741868|PMID:25750018|PMID:25757997|PMID:25863075|PMID:25882749|PMID:2589491|PMID:25894915|PMID:25920592|PMID:25952249|PMID:2606484|PMID:26206375|PMID:26210745|PMID:26322415|PMID:26351554|PMID:26413448|PMID:26467025|PMID:26481238|PMID:26503515|PMID:26542770|PMID:26589311|PMID:26600521|PMID:26655635|PMID:26666653|PMID:26701937|PMID:26803807|PMID:26982749|PMID:26990548|PMID:27121329|PMID:27175306|PMID:27243974|PMID:27264808|PMID:27308838|PMID:27413125|PMID:27469133|PMID:27578510|PMID:27620137|PMID:27623981|PMID:27682710|PMID:27760515|PMID:2816939|PMID:28174686|PMID:28400091|PMID:2840952|PMID:28492532|PMID:28653649|PMID:28676969|PMID:28754886|PMID:28771436|PMID:2884570|PMID:28851938|PMID:28915855|PMID:28982351|PMID:29032371|PMID:29144512|PMID:29176022|PMID:29288420|PMID:29316886|PMID:29317692|PMID:29390883|PMID:29413232|PMID:29473999|PMID:29499199|PMID:29653233|PMID:29654578|PMID:29749107|PMID:29997390|PMID:30037505|PMID:30050108|PMID:30067850|PMID:3008810|PMID:30159852|PMID:30275481|PMID:30311390|PMID:30367646|PMID:30389586|PMID:30459323|PMID:30487145|PMID:30648773|PMID:30667134|PMID:30747360|PMID:30829006|PMID:30838026|PMID:30887117|PMID:30904546|PMID:3093157|PMID:30963030|PMID:31102715|PMID:31178897|PMID:31208052|PMID:31332730|PMID:31355225|PMID:31445982|PMID:31589614|PMID:31623983|PMID:31640267|PMID:31737040|PMID:31980526|PMID:32106880|PMID:32668217|PMID:32778825|PMID:32801363|PMID:32860008|PMID:32893076|PMID:32905092|PMID:33101986|PMID:33116287|PMID:33465300|PMID:33564846|PMID:33677757|PMID:33803550|PMID:34039861|PMID:3615198|PMID:7545869|PMID:7556322|PMID:7581408|PMID:7668259|PMID:7707686|PMID:7726156|PMID:7741023|PMID:7766951|PMID:7766957|PMID:7807961|PMID:7833927|PMID:7833954|PMID:7844887|PMID:7860062|PMID:7913581|PMID:7914195|PMID:7915167|PMID:7981714|PMID:8019568|PMID:8051931|PMID:8068076|PMID:8069318|PMID:8088845|PMID:8095248|PMID:8097261|PMID:8097262|PMID:8097423|PMID:8098245|PMID:8116675|PMID:8222245|PMID:8268925|PMID:8304187|PMID:8320703|PMID:8364546|PMID:8364593|PMID:8370573|PMID:8401510|PMID:8406445|PMID:8445621|PMID:8487271|PMID:8528673|PMID:8533759|PMID:8535444|PMID:8535445|PMID:8556304|PMID:8592329|PMID:8632937|PMID:8659548|PMID:8682503|PMID:8739972|PMID:8807319|PMID:8807331|PMID:8829656|PMID:8830172|PMID:8831077|PMID:8860005|PMID:8889583|PMID:8889590|PMID:8981952|PMID:8990013|PMID:8990021|PMID:9012412|PMID:9048935|PMID:9101291|PMID:9169088|PMID:9254847|PMID:9284280|PMID:9298832|PMID:9359039|PMID:9380432|PMID:9391881|PMID:9399840|PMID:9399896|PMID:9429153|PMID:9450182|PMID:9450897|PMID:9452061|PMID:9452062|PMID:9521426|PMID:9536098|PMID:9540801|PMID:9575658|PMID:9600453|PMID:9634518|PMID:9642259|PMID:9781015|PMID:9792411|PMID:9799096|PMID:9825986|PMID:9860305|PMID:9949232|PMID:9950317 11834414 PAH phenylalanine hydroxylase gene DOID:9281 phenylketonuria ISO RGD:735410 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Phenylketonuria PMID:25155776|PMID:25323746|PMID:25333069|PMID:25453233|PMID:25456745|PMID:25525159|PMID:25550961|PMID:25551302|PMID:25563416|PMID:25596310|PMID:2564729|PMID:2574002|PMID:2574153|PMID:25741868|PMID:25750018|PMID:25757997|PMID:25863075|PMID:25882749|PMID:2589491|PMID:25894915|PMID:25920592|PMID:25952249|PMID:2606484|PMID:26206375|PMID:26210745|PMID:26322415|PMID:26351554|PMID:26413448|PMID:26467025|PMID:26481238|PMID:26503515|PMID:26542770|PMID:26589311|PMID:26600521|PMID:26655635|PMID:26666653|PMID:26701937|PMID:26803807|PMID:26982749|PMID:26990548|PMID:27121329|PMID:27175306|PMID:27243974|PMID:27264808|PMID:27308838|PMID:27413125|PMID:27469133|PMID:27578510|PMID:27620137|PMID:27623981|PMID:27682710|PMID:27760515|PMID:2816939|PMID:28174686|PMID:28400091|PMID:2840952|PMID:28492532|PMID:28653649|PMID:28676969|PMID:28754886|PMID:28771436|PMID:2884570|PMID:28851938|PMID:28915855|PMID:28982351|PMID:29032371|PMID:29144512|PMID:29176022|PMID:29288420|PMID:29316886|PMID:29317692|PMID:29390883|PMID:29413232|PMID:29473999|PMID:29499199|PMID:29653233|PMID:29654578|PMID:29749107|PMID:29997390|PMID:30037505|PMID:30050108|PMID:30067850|PMID:3008810|PMID:30159852|PMID:30275481|PMID:30311390|PMID:30367646|PMID:30389586|PMID:30459323|PMID:30487145|PMID:30648773|PMID:30667134|PMID:30747360|PMID:30829006|PMID:30838026|PMID:30887117|PMID:30904546|PMID:3093157|PMID:30963030|PMID:31102715|PMID:31130284|PMID:31178897|PMID:31208052|PMID:31332730|PMID:31355225|PMID:31445982|PMID:31589614|PMID:31623983|PMID:31640267|PMID:31737040|PMID:31980526|PMID:32039316|PMID:32106880|PMID:32668217|PMID:32778825|PMID:32801363|PMID:32860008|PMID:32893076|PMID:32905092|PMID:33101986|PMID:33116287|PMID:33465300|PMID:33564846|PMID:33677757|PMID:33803550|PMID:34039861|PMID:35690318|PMID:3615198|PMID:7545869|PMID:7556322|PMID:7581408|PMID:7668259|PMID:7707686|PMID:7726156|PMID:7741023|PMID:7766951|PMID:7766957|PMID:7807961|PMID:7833927|PMID:7833954|PMID:7844887|PMID:7860062|PMID:7913581|PMID:7914195|PMID:7915167|PMID:7981714|PMID:8019568|PMID:8051931|PMID:8068076|PMID:8069318|PMID:8088845|PMID:8095248|PMID:8097261|PMID:8097262|PMID:8097423|PMID:8098245|PMID:8116675|PMID:8222245|PMID:8268925|PMID:8304187|PMID:8320703|PMID:8364546|PMID:8364593|PMID:8370573|PMID:8401510|PMID:8406445|PMID:8445621|PMID:8487271|PMID:8528673|PMID:8533759|PMID:8535444|PMID:8535445|PMID:8556304|PMID:8592329|PMID:8632937|PMID:8659548|PMID:8682503|PMID:8739972|PMID:8807319|PMID:8807331|PMID:8829656|PMID:8830172|PMID:8831077|PMID:8860005|PMID:8889583|PMID:8889590|PMID:8981952|PMID:8990013|PMID:8990021|PMID:9012412|PMID:9048935|PMID:9101291|PMID:9169088|PMID:9254847|PMID:9284280|PMID:9298832|PMID:9359039|PMID:9380432|PMID:9391881|PMID:9399840|PMID:9399896|PMID:9429153|PMID:9450182|PMID:9450897|PMID:9452061|PMID:9452062|PMID:9521426|PMID:9536098|PMID:9540801|PMID:9575658|PMID:9600453|PMID:9634518|PMID:9642259|PMID:9781015|PMID:9792411|PMID:9799096|PMID:9825986|PMID:9860305|PMID:9949232|PMID:9950317 11834414 PAH phenylalanine hydroxylase gene DOID:9281 phenylketonuria ISO RGD:735410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Folling disease | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Phenylketonuria PMID:10196714|PMID:10200057|PMID:10234516|PMID:10356314|PMID:10356315|PMID:10394930|PMID:10408782|PMID:10429004|PMID:10471838|PMID:10472529|PMID:10479481|PMID:10484807|PMID:10495930|PMID:10527663|PMID:10541324|PMID:10598814|PMID:10679941|PMID:10685924|PMID:10693064|PMID:10720436|PMID:10767174|PMID:10875932|PMID:10947211|PMID:10980574|PMID:11051201|PMID:11139255|PMID:11142755|PMID:11161825|PMID:11161839|PMID:11180595|PMID:11214902|PMID:11243094|PMID:11244681|PMID:11295882|PMID:11326337|PMID:11328945|PMID:11360625|PMID:11385716|PMID:1146119|PMID:11461190|PMID:11461196|PMID:11486900|PMID:11524738|PMID:11581453|PMID:11588399|PMID:11678552|PMID:11696894|PMID:11708866|PMID:11914042|PMID:11935335|PMID:11999982|PMID:12126628|PMID:12173030|PMID:12210276|PMID:12409276|PMID:12501224|PMID:12542580|PMID:12554741|PMID:12640344|PMID:12644360|PMID:12649065|PMID:12655544|PMID:12655546|PMID:12655547|PMID:12655548|PMID:12655550|PMID:12655551|PMID:12655552|PMID:12655553|PMID:12655554|PMID:12765842|PMID:12836060|PMID:12905706|PMID:12971421|PMID:1301187|PMID:1301193|PMID:1301200|PMID:1301201|PMID:1301202|PMID:1301947|PMID:1307609|PMID:1312992|PMID:1349566|PMID:1349576|PMID:1355066|PMID:1358789|PMID:1360590|PMID:1363786|PMID:1363837|PMID:1363838|PMID:14568534|PMID:14654665|PMID:14681498|PMID:14722928|PMID:14726806|PMID:14741196|PMID:15159646|PMID:15171997|PMID:15300621|PMID:15319459|PMID:15459954|PMID:15464430|PMID:15503242|PMID:1555700|PMID:15557004|PMID:15589814|PMID:15633889|PMID:15793771|PMID:15943553|PMID:1601425|PMID:16051511|PMID:1609797|PMID:16143554|PMID:16165389|PMID:16167124|PMID:16176881|PMID:16198137|PMID:16199547|PMID:16253218|PMID:16256386|PMID:16290003|PMID:1639423|PMID:16402341|PMID:16504182|PMID:16545551|PMID:16601866|PMID:1671768|PMID:1671770|PMID:1671810|PMID:1671881|PMID:1672290|PMID:1672294|PMID:16755493|PMID:16765994|PMID:1679030|PMID:1682234|PMID:1682235|PMID:1682495|PMID:16875683|PMID:16879198|PMID:16931086|PMID:17096675|PMID:17221866|PMID:17408607|PMID:17502162|PMID:17513426|PMID:17557229|PMID:17576681|PMID:17627389|PMID:17630668|PMID:1769645|PMID:17846916|PMID:17924342|PMID:17935162|PMID:18247293|PMID:18294361|PMID:18299955|PMID:18321666|PMID:18346471|PMID:18394115|PMID:18447256|PMID:18493213|PMID:18538294|PMID:18590700|PMID:18592473|PMID:18798839|PMID:18937047|PMID:18937293|PMID:18956252|PMID:18985011|PMID:19015950|PMID:19036622|PMID:19062537|PMID:19099685|PMID:19147918|PMID:19292873|PMID:19394257|PMID:19444284|PMID:19609714|PMID:1968617|PMID:1971144|PMID:1971147|PMID:1975096|PMID:1975559|PMID:1978553|PMID:19786003|PMID:1981599|PMID:19913839|PMID:19915519|PMID:19948162|PMID:1997387|PMID:1998345|PMID:20017307|PMID:2006152|PMID:20063067|PMID:20082265|PMID:20123475|PMID:2014036|PMID:20140859|PMID:2014802|PMID:20179079|PMID:2018035|PMID:20187763|PMID:20188615|PMID:20301677|PMID:2035532|PMID:2044609|PMID:20457534|PMID:2063869|PMID:2071149|PMID:20920871|PMID:20937381|PMID:21147011|PMID:21154324|PMID:21228398|PMID:21307867|PMID:21445337|PMID:21462123|PMID:21527427|PMID:2173030|PMID:21811977|PMID:21820508|PMID:21871829|PMID:21890392|PMID:21915151|PMID:21937252|PMID:21953985|PMID:22106832|PMID:22112818|PMID:22300847|PMID:22330942|PMID:22333022|PMID:22388642|PMID:22391997|PMID:22513348|PMID:22526846|PMID:22698810|PMID:22763404|PMID:22841515|PMID:22917871|PMID:22921945|PMID:22975760|PMID:22995991|PMID:23062575|PMID:23074961|PMID:2309142|PMID:23220018|PMID:23225039|PMID:2323773|PMID:23271928|PMID:23348723|PMID:23352163|PMID:23357515|PMID:23430547|PMID:23430859|PMID:23430918|PMID:23500595|PMID:23514811|PMID:23559577|PMID:23690520|PMID:23716935|PMID:23757202|PMID:23764561|PMID:23792259|PMID:23842451|PMID:23856132|PMID:23932990|PMID:23942198|PMID:24033266|PMID:24048906|PMID:24078561|PMID:24130151|PMID:24190797|PMID:24296287|PMID:24301756|PMID:24304607|PMID:24327145|PMID:24350308|PMID:24368688|PMID:24401910|PMID:24510552|PMID:24510568|PMID:24628256|PMID:24661517|PMID:24667082|PMID:24705691|PMID:24765287|PMID:24789341|PMID:24882081 11834414 PAH phenylalanine hydroxylase gene DOID:9281 phenylketonuria ISO RGD:735410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Folling disease | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Phenylketonuria PMID:24939588|PMID:24941924|PMID:25003100|PMID:25085675|PMID:25087612|PMID:25155776|PMID:25323746|PMID:25333069|PMID:25453233|PMID:25456745|PMID:25525159|PMID:25550961|PMID:25551302|PMID:25563416|PMID:25596310|PMID:25640679|PMID:2564729|PMID:2574002|PMID:2574153|PMID:25741868|PMID:2575001|PMID:25750018|PMID:25757997|PMID:25863075|PMID:25882749|PMID:2589491|PMID:25894915|PMID:25920592|PMID:25952249|PMID:2606484|PMID:2615649|PMID:26206375|PMID:26210745|PMID:26322415|PMID:26351554|PMID:26413448|PMID:26467025|PMID:26481238|PMID:26503515|PMID:26542770|PMID:26589311|PMID:26600521|PMID:26655635|PMID:26666653|PMID:26701937|PMID:26803807|PMID:26982749|PMID:26990548|PMID:27121329|PMID:27175306|PMID:27243974|PMID:27264808|PMID:27308838|PMID:27413125|PMID:27469133|PMID:27578510|PMID:27620137|PMID:27623981|PMID:27682710|PMID:27760515|PMID:2816939|PMID:28174686|PMID:28182360|PMID:28400091|PMID:2840952|PMID:28492532|PMID:28653649|PMID:28676969|PMID:28754886|PMID:28771436|PMID:2884570|PMID:28851938|PMID:28915855|PMID:28982351|PMID:29025426|PMID:29032371|PMID:29144512|PMID:29176022|PMID:29288420|PMID:29316886|PMID:29317692|PMID:29390883|PMID:29413232|PMID:29473999|PMID:29499199|PMID:29653233|PMID:29654578|PMID:29684050|PMID:29731766|PMID:29749107|PMID:29892150|PMID:29997390|PMID:30037505|PMID:30050108|PMID:30067850|PMID:3008810|PMID:30159852|PMID:30275481|PMID:30311390|PMID:30367646|PMID:30389586|PMID:30459323|PMID:30487145|PMID:30612563|PMID:30626930|PMID:30648773|PMID:30667134|PMID:30668579|PMID:30674554|PMID:30747360|PMID:30829006|PMID:30838026|PMID:30887117|PMID:30904546|PMID:3093157|PMID:30963030|PMID:31102715|PMID:31130284|PMID:31164572|PMID:31178897|PMID:31208052|PMID:31332730|PMID:31355225|PMID:31445982|PMID:31589614|PMID:31623983|PMID:31640267|PMID:31737040|PMID:31980526|PMID:32039316|PMID:32106880|PMID:32533790|PMID:32668217|PMID:32778825|PMID:32801363|PMID:32860008|PMID:32893076|PMID:32905092|PMID:32906206|PMID:33101986|PMID:33116287|PMID:33177615|PMID:33375644|PMID:33465300|PMID:33564846|PMID:33677757|PMID:33803550|PMID:33980295|PMID:34039861|PMID:34828281|PMID:35079019|PMID:35281663|PMID:35339094|PMID:35405047|PMID:35690318|PMID:3615198|PMID:7545869|PMID:7556322|PMID:7581408|PMID:7668259|PMID:7707686|PMID:7726156|PMID:7741023|PMID:7766951|PMID:7766957|PMID:7807961|PMID:7833927|PMID:7833954|PMID:7844887|PMID:7844888|PMID:7860062|PMID:7913581|PMID:7914195|PMID:7915167|PMID:7981714|PMID:8019568|PMID:8051931|PMID:8068076|PMID:8069318|PMID:8088845|PMID:8095248|PMID:8097261|PMID:8097262|PMID:8097423|PMID:8098245|PMID:8116675|PMID:8222245|PMID:8268925|PMID:8304187|PMID:8320703|PMID:8364546|PMID:8364593|PMID:8370573|PMID:8401510|PMID:8406445|PMID:8445621|PMID:8487271|PMID:8528673|PMID:8533759|PMID:8535444|PMID:8535445|PMID:8556304|PMID:8592329|PMID:8632937|PMID:8659548|PMID:8682503|PMID:8739972|PMID:8807319|PMID:8807331|PMID:8825928|PMID:8829656|PMID:8830172|PMID:8831077|PMID:8860005|PMID:8889583|PMID:8889590|PMID:8981952|PMID:8990013|PMID:8990021|PMID:9012412|PMID:9048935|PMID:9101291|PMID:9169088|PMID:9254847|PMID:9284280|PMID:9298832|PMID:9359039|PMID:9380432|PMID:9391881|PMID:9399840|PMID:9399896|PMID:9429153|PMID:9450182|PMID:9450897|PMID:9452061|PMID:9452062|PMID:9521426|PMID:9536098|PMID:9540801|PMID:9575658|PMID:9600453|PMID:9634518|PMID:9642259|PMID:9781015|PMID:9792411|PMID:9799096|PMID:9825986|PMID:9843368|PMID:9860305|PMID:9949232|PMID:9950317 11834437 PTEN phosphatase and tensin homolog gene DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome ISO RGD:69119 D RGD:7240710 20230505 OMIM 11834437 PTEN phosphatase and tensin homolog gene DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: Cowden syndrome 1 | ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA | ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10606430|PMID:10698713|PMID:10749983|PMID:10772829|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11504908|PMID:11685670|PMID:11875759|PMID:11918710|PMID:11939587|PMID:11948419|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12808147|PMID:12833416|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14623110|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16619501|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16952599|PMID:17167516|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18558293|PMID:18725974|PMID:18767981|PMID:18986487|PMID:19265751|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:19968660|PMID:20018398|PMID:20085938|PMID:20194734|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20881644|PMID:20926450|PMID:20962022|PMID:21103832|PMID:21194675|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22381246|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22962422|PMID:23066114|PMID:23160955|PMID:23161105|PMID:23315997|PMID:2333580|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23613428|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23934111|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24136893|PMID:24292679|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24468202|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25288137|PMID:25326635|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25875300|PMID:25910213|PMID:25980754|PMID:26099045|PMID:26124082|PMID:26229595|PMID:26246517|PMID:26376867|PMID:26418532|PMID:26443266|PMID:26467025|PMID:26468640|PMID:26517354|PMID:26580448|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26898890|PMID:26919320|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28086757|PMID:28135145|PMID:28235761|PMID:28263302|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28523199|PMID:28526761|PMID:28655553|PMID:28677221|PMID:28873162|PMID:29273943|PMID:29296277|PMID:29359449|PMID:29371908|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30528446|PMID:30614812|PMID:30659124|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31159747|PMID:31199785|PMID:31209962|PMID:31336731|PMID:31594918|PMID:31664961|PMID:32162695|PMID:32185379|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32442409|PMID:32461654|PMID:32664367|PMID:32832836|PMID:32885271|PMID:33077954|PMID:33083010|PMID:33088792 11834437 PTEN phosphatase and tensin homolog gene DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: Cowden syndrome 1 | ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA | ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME PMID:33372952|PMID:33471991|PMID:33600059|PMID:33876391|PMID:33887726|PMID:34268892|PMID:34308366|PMID:34625746|PMID:35227301|PMID:36988593|PMID:7728760|PMID:8673088|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9740666|PMID:9794233|PMID:9811831|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 11834437 PTEN phosphatase and tensin homolog gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:61995 D RGD:9068941 20200609 RGD Protein:increased expression, increased activity:cerebellum (rat) PMID:12700235|REF_RGD_ID:12801493 11834437 PTEN phosphatase and tensin homolog gene DOID:0050787 juvenile polyposis syndrome ISO RGD:69119 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 11834437 PTEN phosphatase and tensin homolog gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:69119 D RGD:9068941 20210625 RGD protein:increased expression:oral epithelium (human) PMID:33109573|REF_RGD_ID:127285606 11834437 PTEN phosphatase and tensin homolog gene DOID:0050868 hepatocellular adenoma ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:15199412|REF_RGD_ID:1302555 11834437 PTEN phosphatase and tensin homolog gene DOID:0050868 hepatocellular adenoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27022031 11834437 PTEN phosphatase and tensin homolog gene DOID:0050933 ovarian serous carcinoma exacerbates ISO RGD:69119 D RGD:9068941 20210625 RGD protein:increased expression:ovary, peritoneum (human) PMID:26166715|REF_RGD_ID:11532228 11834437 PTEN phosphatase and tensin homolog gene DOID:0060041 autism spectrum disorder ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30763456 11834437 PTEN phosphatase and tensin homolog gene DOID:0060058 lymphoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22287727 11834437 PTEN phosphatase and tensin homolog gene DOID:0060669 cerebral cavernous malformation ISO RGD:69119 D RGD:9068941 20200609 RGD protein:decreased expression:brain (human) PMID:19061355|REF_RGD_ID:12859036 11834437 PTEN phosphatase and tensin homolog gene DOID:0060867 macrocephaly-autism syndrome ISO RGD:69119 D RGD:7240710 20230505 OMIM 11834437 PTEN phosphatase and tensin homolog gene DOID:0060867 macrocephaly-autism syndrome ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Macrocephaly-autism syndrome | ClinVar Annotator: match by term: Macrocephaly/autism syndrome PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10606430|PMID:10749983|PMID:10772390|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11071384|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11685670|PMID:11918710|PMID:12015762|PMID:12372056|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15805158|PMID:16014636|PMID:16199547|PMID:16752378|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20301661|PMID:20453058|PMID:20600018|PMID:20619739|PMID:20712882|PMID:20718038|PMID:20881644|PMID:20926450|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21659347|PMID:21798997|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22252256|PMID:22266152|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22505997|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22970944|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:2338203|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23744781|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24088041|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24468202|PMID:24728327|PMID:24763289|PMID:24768297|PMID:24778394|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25288137|PMID:25326635|PMID:25326637|PMID:25418537|PMID:25525159|PMID:25527629|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25910213|PMID:25980754|PMID:26124082|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26443266|PMID:26467025|PMID:26579216|PMID:26580448|PMID:26633545|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26800850|PMID:26898890|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27535533|PMID:27878467|PMID:27884173|PMID:27959697|PMID:28008555|PMID:28086757|PMID:28135145|PMID:28251007|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:29048666|PMID:29273943|PMID:29371908|PMID:29373119|PMID:29389947|PMID:29594054|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29970488|PMID:30287823|PMID:30311381|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30763456|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:32150788|PMID:32238909|PMID:32350270|PMID:32442409|PMID:32860008|PMID:33077954|PMID:33083010|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33624935|PMID:33887726|PMID:34268892|PMID:35227301|PMID:36988593|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9685848|PMID:9832031|PMID:9832032|PMID:9856571 11834437 PTEN phosphatase and tensin homolog gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:62287 D RGD:9068941 20220825 MouseDO 11834437 PTEN phosphatase and tensin homolog gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:69119 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hamartomatous polyposis | ClinVar Annotator: match by term: Multiple hamartoma syndrome | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10564676|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11355302|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11684570|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11918710|PMID:11939587|PMID:11948419|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12471211|PMID:12614768|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14623110|PMID:14675182|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16287957|PMID:16506206|PMID:16598737|PMID:16685657|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17167516|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18456716|PMID:18510548|PMID:18558293|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19622968|PMID:19719509|PMID:19763152|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20085938|PMID:20186503|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20307669|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20848651|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21869887|PMID:21926107|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22252256|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22382802|PMID:22406018|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22713753|PMID:22962422|PMID:22993021|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23132533|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23331837|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23613428|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23888040|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24123798|PMID:24136893|PMID:24292679|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24641667|PMID:24647592|PMID:24656772|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25418537|PMID:25429968|PMID:25448481|PMID:25448482|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25616216|PMID:25640679|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25873899|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26443266|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844 11834437 PTEN phosphatase and tensin homolog gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:69119 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hamartomatous polyposis | ClinVar Annotator: match by term: Multiple hamartoma syndrome | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:26579216|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26681312|PMID:26757417|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27506944|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27720647|PMID:27819275|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28086757|PMID:28135145|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28263302|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28774669|PMID:28873162|PMID:29048666|PMID:29095814|PMID:29117568|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29510612|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30311381|PMID:30327747|PMID:30528446|PMID:30614812|PMID:30793491|PMID:30993208|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31199785|PMID:31209962|PMID:31336731|PMID:31594918|PMID:31674007|PMID:32037394|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32442409|PMID:32461654|PMID:32566746|PMID:33077954|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33624935|PMID:33876391|PMID:7728760|PMID:8071972|PMID:8673088|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9286463|PMID:9288766|PMID:9326929|PMID:9371490|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 11834437 PTEN phosphatase and tensin homolog gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hamartomatous polyposis | ClinVar Annotator: match by term: Multiple hamartoma syndrome | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10772829|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11906179|PMID:11918710|PMID:11939587|PMID:11948419|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12808147|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16052674|PMID:16199547|PMID:16287957|PMID:16506206|PMID:16619501|PMID:16685657|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16829519|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17167516|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17444818|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18456716|PMID:18510548|PMID:18558293|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19190598|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19622968|PMID:19719509|PMID:19763152|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20085938|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20307669|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20848651|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21869887|PMID:21926107|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22252256|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22382802|PMID:22406018|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22713753|PMID:22962422|PMID:22970944|PMID:22993021|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23132533|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23331837|PMID:2333580|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23419777|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23613428|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23888040|PMID:23934111|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24123798|PMID:24136893|PMID:24292679|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24641667|PMID:24647592|PMID:24656772|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25418537|PMID:25429968|PMID:25448478|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629 11834437 PTEN phosphatase and tensin homolog gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hamartomatous polyposis | ClinVar Annotator: match by term: Multiple hamartoma syndrome | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:25549896|PMID:25616216|PMID:25640679|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25873899|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26350204|PMID:26376867|PMID:26418532|PMID:26443266|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26633542|PMID:26637798|PMID:26681312|PMID:26757417|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:26932208|PMID:27087592|PMID:27157322|PMID:27221918|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27506944|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27819275|PMID:27824329|PMID:27854218|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:27993330|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29117568|PMID:29152901|PMID:29263802|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29496690|PMID:29510612|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30311381|PMID:30327747|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30793491|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31199785|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31594918|PMID:31664961|PMID:31674007|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32832836|PMID:32885271|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33624935|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34492006|PMID:34625746|PMID:35101336|PMID:35227301|PMID:36988593|PMID:7728760|PMID:8071972|PMID:8673088|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9286463|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9371490|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 11834437 PTEN phosphatase and tensin homolog gene DOID:0080191 PTEN hamartoma tumor syndrome susceptibility ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:missense mutation, nonsense mutations:cds:p.G129E, p.E157X, p.R233X (human) PMID:9140396|REF_RGD_ID:12802361 11834437 PTEN phosphatase and tensin homolog gene DOID:0080202 adenoid cystic carcinoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11834437 PTEN phosphatase and tensin homolog gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26023714 11834437 PTEN phosphatase and tensin homolog gene DOID:0080365 endometrial hyperplasia ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16402032 11834437 PTEN phosphatase and tensin homolog gene DOID:0081000 Cowden syndrome 4 ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cowden syndrome 4 PMID:25741868 11834437 PTEN phosphatase and tensin homolog gene DOID:0111766 X-linked VACTERL association ISO RGD:69119 D RGD:8554872 20230117 ClinVar ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly PMID:10866302|PMID:11748304|PMID:17526800|PMID:17526801|PMID:17942903|PMID:21828076|PMID:22628360|PMID:24778394|PMID:25157968|PMID:25669429|PMID:25741868|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29706350|PMID:29874181 11834437 PTEN phosphatase and tensin homolog gene DOID:10283 prostate cancer ISO RGD:69119 D RGD:7240710 20230505 OMIM 11834437 PTEN phosphatase and tensin homolog gene DOID:10283 prostate cancer ISO RGD:69119 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:10866302|PMID:11684570|PMID:11685670|PMID:14518070|PMID:17392703|PMID:17526800|PMID:17526801|PMID:20301661|PMID:21956414|PMID:22381246|PMID:22595938|PMID:22628360|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:24033266|PMID:24052722|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25549896|PMID:25669429|PMID:25677497|PMID:25741868|PMID:25756585|PMID:27477328|PMID:27959697|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29874181|PMID:30287823|PMID:30614812|PMID:32238909|PMID:33077954|PMID:33600059|PMID:9399897|PMID:9467011 11834437 PTEN phosphatase and tensin homolog gene DOID:10283 prostate cancer ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Prostate cancer PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:10866302|PMID:10923032|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11685670|PMID:11918710|PMID:14518070|PMID:16773562|PMID:17286265|PMID:17392703|PMID:17526800|PMID:17526801|PMID:18767981|PMID:20085938|PMID:20301661|PMID:21194675|PMID:21956414|PMID:22266152|PMID:22381246|PMID:22595938|PMID:22628360|PMID:23335809|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23764071|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24345843|PMID:24778394|PMID:25157968|PMID:25326635|PMID:25669429|PMID:25741868|PMID:25756585|PMID:26467025|PMID:27477328|PMID:27959697|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:29594054|PMID:29874181|PMID:30287823|PMID:30614812|PMID:30659124|PMID:32238909|PMID:33077954|PMID:33083010|PMID:33372952|PMID:33600059|PMID:36988593|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9856571 11834437 PTEN phosphatase and tensin homolog gene DOID:10283 prostate cancer disease_progression ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:deletion PMID:17700571|REF_RGD_ID:2292502 11834437 PTEN phosphatase and tensin homolog gene DOID:10283 prostate cancer disease_progression ISO RGD:69119 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:lower in high versus low Gleason score tumors (p<0.05 compared to at least one housekeeping gene) PMID:18336616|REF_RGD_ID:2301729 11834437 PTEN phosphatase and tensin homolog gene DOID:10325 silicosis ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27621875 11834437 PTEN phosphatase and tensin homolog gene DOID:10534 stomach cancer ISO RGD:69119 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10076877|PMID:10400993|PMID:10555148|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11918710|PMID:12614768|PMID:12938083|PMID:1336932|PMID:14566704|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16199547|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17324556|PMID:17526800|PMID:17526801|PMID:17873882|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20194734|PMID:20453058|PMID:20619739|PMID:20881644|PMID:21194675|PMID:21828076|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22261759|PMID:22266152|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22962422|PMID:23161105|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23470840|PMID:23475934|PMID:23764071|PMID:23934111|PMID:23934601|PMID:24033266|PMID:24123798|PMID:24345843|PMID:24375884|PMID:24744697|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25363760|PMID:25647146|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26773036|PMID:27426521|PMID:27477328|PMID:27531073|PMID:27535533|PMID:27824329|PMID:28191890|PMID:28263302|PMID:28286253|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:29594054|PMID:29706350|PMID:29706646|PMID:29785012|PMID:30181857|PMID:30528446|PMID:30614812|PMID:30659124|PMID:31332282|PMID:31336731|PMID:32295079|PMID:32664367|PMID:33083010|PMID:33088792|PMID:33372952|PMID:35227301|PMID:36988593|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803|PMID:9832031|PMID:9856571 11834437 PTEN phosphatase and tensin homolog gene DOID:10584 retinitis pigmentosa onset ISO RGD:61995 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (rat) PMID:22432009|REF_RGD_ID:12802340 11834437 PTEN phosphatase and tensin homolog gene DOID:1059 intellectual disability ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10555148|PMID:11332402|PMID:12372056|PMID:17526800|PMID:17576681|PMID:18080326|PMID:21194675|PMID:21291452|PMID:21659347|PMID:21956414|PMID:22703879|PMID:23442912|PMID:23555315|PMID:24763289|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26800850|PMID:27428751|PMID:27477328|PMID:28492532|PMID:29371908|PMID:31144778|PMID:31159747|PMID:31209962|PMID:33471991|PMID:34268892|PMID:9536098 11834437 PTEN phosphatase and tensin homolog gene DOID:10762 portal hypertension ISO RGD:61995 D RGD:9068941 20200609 RGD PMID:14525948|REF_RGD_ID:1581280 11834437 PTEN phosphatase and tensin homolog gene DOID:10763 hypertension ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15646324 11834437 PTEN phosphatase and tensin homolog gene DOID:11054 urinary bladder cancer ISO RGD:62287 D RGD:9068941 20220825 MouseDO OMIM:109800 11834437 PTEN phosphatase and tensin homolog gene DOID:11054 urinary bladder cancer ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:mutations: :multiple PMID:9671402|REF_RGD_ID:2292515 11834437 PTEN phosphatase and tensin homolog gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:69119 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:18190825|REF_RGD_ID:2291891 11834437 PTEN phosphatase and tensin homolog gene DOID:11132 prostatic hypertrophy ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:11175795|REF_RGD_ID:1302553 11834437 PTEN phosphatase and tensin homolog gene DOID:11166 papillomavirus infectious disease ISO RGD:69119 D RGD:9068941 20210625 RGD associated with head and neck squamous cell carcinoma;protein:increased expression:oropharynx (human) PMID:28945300|REF_RGD_ID:127285601 11834437 PTEN phosphatase and tensin homolog gene DOID:11166 papillomavirus infectious disease ISO RGD:69119 D RGD:9068941 20210625 RGD associated with tonsil cancer;protein:increased expression:tonsil (human) PMID:24616007|REF_RGD_ID:127285613 11834437 PTEN phosphatase and tensin homolog gene DOID:1148 polydactyly ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17427195 11834437 PTEN phosphatase and tensin homolog gene DOID:11832 visual epilepsy ISO RGD:62287 D RGD:9068941 20220728 RGD PMID:11726926|REF_RGD_ID:1302554 11834437 PTEN phosphatase and tensin homolog gene DOID:1192 peripheral nervous system neoplasm ISO RGD:69119 D RGD:9068941 20200609 RGD associated with Neurofibromatosis 1;DNA:loss of heterozygosity:cds: (human) PMID:19246520|REF_RGD_ID:12802354 11834437 PTEN phosphatase and tensin homolog gene DOID:12273 anisometropia ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9286463 11834437 PTEN phosphatase and tensin homolog gene DOID:1240 leukemia ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12970779 11834437 PTEN phosphatase and tensin homolog gene DOID:127 leiomyoma ISO RGD:69119 D RGD:9068941 20200609 RGD protein:decreased expression:myometrium PMID:18000229|REF_RGD_ID:2292498 11834437 PTEN phosphatase and tensin homolog gene DOID:127 leiomyoma ISO RGD:69119 D RGD:9068941 20200609 RGD protein:increased phosphorylation:myometrium PMID:17097286|REF_RGD_ID:2292508 11834437 PTEN phosphatase and tensin homolog gene DOID:12849 autistic disorder ISO RGD:69119 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:16506206|PMID:16704655|PMID:19457929|PMID:21956414|PMID:24778394|PMID:25669429|PMID:25741868|PMID:26246517|PMID:26534844|PMID:27514801|PMID:28492532|PMID:28523199|PMID:29296277|PMID:9288766 11834437 PTEN phosphatase and tensin homolog gene DOID:12849 autistic disorder ISO RGD:69119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:16506206|PMID:16704655|PMID:19457929|PMID:20926450|PMID:21956414|PMID:24778394|PMID:25669429|PMID:25741868|PMID:26246517|PMID:26534844|PMID:27514801|PMID:28492532|PMID:28523199|PMID:29296277|PMID:29706350|PMID:29785012|PMID:9288766|PMID:9600246 11834437 PTEN phosphatase and tensin homolog gene DOID:13042 persistent fetal circulation syndrome ISO RGD:62287 D RGD:9068941 20220825 MouseDO OMIM:265380 11834437 PTEN phosphatase and tensin homolog gene DOID:13482 Proteus syndrome ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Proteus-like syndrome PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:11685670|PMID:12471211|PMID:14518070|PMID:17392703|PMID:20301661|PMID:21956414|PMID:22381246|PMID:22595938|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:24033266|PMID:24052722|PMID:24778394|PMID:25157968|PMID:25326635|PMID:25669429|PMID:25741868|PMID:25756585|PMID:27477328|PMID:27535533|PMID:27959697|PMID:28492532|PMID:28526761|PMID:30287823|PMID:30614812|PMID:32238909|PMID:33077954|PMID:33600059|PMID:9399897|PMID:9467011 11834437 PTEN phosphatase and tensin homolog gene DOID:13608 biliary atresia ISO RGD:69119 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:25487473|REF_RGD_ID:12832754 11834437 PTEN phosphatase and tensin homolog gene DOID:1380 endometrial cancer ISO RGD:62287 D RGD:9068941 20220825 MouseDO OMIM:608089 11834437 PTEN phosphatase and tensin homolog gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11685670 11834437 PTEN phosphatase and tensin homolog gene DOID:14566 disease of cellular proliferation ISO RGD:69119 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:10866302|PMID:11504908|PMID:11875759|PMID:12085208|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23399955|PMID:23470840|PMID:25157968|PMID:25741868|PMID:26517354|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:33077954|PMID:9915974 11834437 PTEN phosphatase and tensin homolog gene DOID:1470 major depressive disorder ISO RGD:69119 D RGD:9068941 20210625 RGD protein:increased expression:occipital cortex (human) PMID:12969265|REF_RGD_ID:127285604 11834437 PTEN phosphatase and tensin homolog gene DOID:1520 colon carcinoma ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:10555148|PMID:12372056|PMID:21194675|PMID:21659347|PMID:21956414|PMID:22703879|PMID:23442912|PMID:23555315|PMID:24763289|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26800850|PMID:27428751|PMID:27477328|PMID:28492532|PMID:29371908|PMID:31144778|PMID:31159747|PMID:31209962|PMID:33471991|PMID:34268892 11834437 PTEN phosphatase and tensin homolog gene DOID:1612 breast cancer ISO RGD:69119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:11918710|PMID:14569134|PMID:14623110|PMID:16199547|PMID:16773562|PMID:17526801|PMID:20712882|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21869887|PMID:22558107|PMID:23315997|PMID:23399955|PMID:24033266|PMID:24136893|PMID:25132236|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26124082|PMID:26467025|PMID:26580448|PMID:26898890|PMID:27535533|PMID:28008555|PMID:28418444|PMID:28492532|PMID:29043291|PMID:29706350|PMID:29785012|PMID:9467011|PMID:9619835|PMID:9788441 11834437 PTEN phosphatase and tensin homolog gene DOID:1612 breast cancer disease_progression ISO RGD:69119 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:12055674|REF_RGD_ID:2292514 11834437 PTEN phosphatase and tensin homolog gene DOID:1749 squamous cell carcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 11834437 PTEN phosphatase and tensin homolog gene DOID:1793 pancreatic cancer ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19917848 11834437 PTEN phosphatase and tensin homolog gene DOID:1826 epilepsy ISO RGD:69119 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:25669429|PMID:25741868|PMID:26467025|PMID:27535533 11834437 PTEN phosphatase and tensin homolog gene DOID:1909 melanoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10866302|PMID:1097835|PMID:10978354|PMID:11476841|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16007494|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21956414|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 11834437 PTEN phosphatase and tensin homolog gene DOID:2018 hyperinsulinism ISO RGD:61995 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:18421022|REF_RGD_ID:2292519 11834437 PTEN phosphatase and tensin homolog gene DOID:2043 hepatitis B exacerbates ISO RGD:62287 D RGD:9068941 20210625 RGD mRNA:decreased expression:liver (mouse) PMID:31604033|REF_RGD_ID:127285593 11834437 PTEN phosphatase and tensin homolog gene DOID:219 colon cancer ISO RGD:69119 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon (human) PMID:21806946|REF_RGD_ID:12859043 11834437 PTEN phosphatase and tensin homolog gene DOID:2226 myeloproliferative neoplasm ISO RGD:69119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable PMID:28492532|PMID:35101336 11834437 PTEN phosphatase and tensin homolog gene DOID:224 transient cerebral ischemia ISO RGD:61995 D RGD:9068941 20200609 RGD PMID:12414116|REF_RGD_ID:1358425 11834437 PTEN phosphatase and tensin homolog gene DOID:2256 osteochondrodysplasia ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:18832389|REF_RGD_ID:12859038 11834437 PTEN phosphatase and tensin homolog gene DOID:2394 ovarian cancer ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:24033266|PMID:24055113|PMID:25741868|PMID:25980754|PMID:27535533|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30287823|PMID:32234455|PMID:32350270|PMID:32832836|PMID:32885271|PMID:33471991 11834437 PTEN phosphatase and tensin homolog gene DOID:2394 ovarian cancer ameliorates ISO RGD:69119 D RGD:9068941 20210625 RGD human gene and cells in a mouse model PMID:18347155|REF_RGD_ID:127285605 11834437 PTEN phosphatase and tensin homolog gene DOID:2526 prostate adenocarcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 11834437 PTEN phosphatase and tensin homolog gene DOID:255 hemangioma ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemangioma PMID:21194675|PMID:28492532|PMID:9467011 11834437 PTEN phosphatase and tensin homolog gene DOID:264 hemangiopericytoma ISO RGD:69119 D RGD:9068941 20221110 RGD protein:decreased expression:anterior temporal lobe PMID:26951238|REF_RGD_ID:155663351 11834437 PTEN phosphatase and tensin homolog gene DOID:2671 transitional cell carcinoma ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:26619011|PMID:27535533|PMID:28492532|PMID:29706350 11834437 PTEN phosphatase and tensin homolog gene DOID:2841 asthma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17982072 11834437 PTEN phosphatase and tensin homolog gene DOID:2843 long QT syndrome ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21097842 11834437 PTEN phosphatase and tensin homolog gene DOID:2870 endometrial adenocarcinoma ameliorates ISO RGD:1319700 D RGD:9068941 20210625 RGD PMID:32843721|REF_RGD_ID:127285600 11834437 PTEN phosphatase and tensin homolog gene DOID:2871 endometrial carcinoma ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10866302|PMID:10920277|PMID:11504908|PMID:11948419|PMID:16014636|PMID:16199547|PMID:17576681|PMID:17942903|PMID:18767981|PMID:1945792|PMID:20085938|PMID:20600018|PMID:21103832|PMID:21194675|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22327138|PMID:23399955|PMID:23470840|PMID:24033266|PMID:24055113|PMID:24292679|PMID:24766807|PMID:25157968|PMID:25741868|PMID:25980754|PMID:26619011|PMID:26795104|PMID:27535533|PMID:28492532|PMID:28677221|PMID:29706350|PMID:29785012|PMID:29931205|PMID:30311380|PMID:32350270|PMID:32832836|PMID:32885271|PMID:7728760|PMID:8980400|PMID:9259288|PMID:9326929|PMID:9467011|PMID:9536098|PMID:9740666|PMID:9915974 11834437 PTEN phosphatase and tensin homolog gene DOID:299 adenocarcinoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17909629 11834437 PTEN phosphatase and tensin homolog gene DOID:303 substance-related disorder ISO RGD:61995 D RGD:9068941 20200609 RGD PMID:16474401|REF_RGD_ID:2292548 11834437 PTEN phosphatase and tensin homolog gene DOID:305 carcinoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9326929 11834437 PTEN phosphatase and tensin homolog gene DOID:3068 glioblastoma ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:10400993|PMID:10555148|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11504908|PMID:11875759|PMID:11948419|PMID:1336932|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16773562|PMID:16952599|PMID:17526800|PMID:17526801|PMID:17873882|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20619739|PMID:20881644|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22479427|PMID:22491738|PMID:22595938|PMID:23335809|PMID:23349303|PMID:23361946|PMID:23399955|PMID:23470840|PMID:23475934|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25527629|PMID:25741868|PMID:26467025|PMID:26619011|PMID:26773036|PMID:26798346|PMID:27426521|PMID:27477328|PMID:27535533|PMID:28286253|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:30614812|PMID:31159747|PMID:31336731|PMID:32350270|PMID:33077954|PMID:35227301|PMID:36988593|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803|PMID:9915974 11834437 PTEN phosphatase and tensin homolog gene DOID:3070 high grade glioma ISO RGD:69119 D RGD:7240710 20230505 OMIM 11834437 PTEN phosphatase and tensin homolog gene DOID:3070 high grade glioma ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 2 PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:10866302|PMID:10923032|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11685670|PMID:11918710|PMID:12085208|PMID:14518070|PMID:16773562|PMID:17286265|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17873882|PMID:18767981|PMID:19340001|PMID:19458356|PMID:19829307|PMID:20085938|PMID:20301661|PMID:21194675|PMID:21956414|PMID:22266152|PMID:22381246|PMID:22491738|PMID:22595938|PMID:22628360|PMID:23335809|PMID:23349303|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23764071|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24345843|PMID:24778394|PMID:24809327|PMID:25157968|PMID:25326635|PMID:25669429|PMID:25741868|PMID:25756585|PMID:26467025|PMID:26773036|PMID:27221918|PMID:27477328|PMID:27535533|PMID:27959697|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28755079|PMID:29373119|PMID:29594054|PMID:29874181|PMID:30287823|PMID:30614812|PMID:30659124|PMID:32238909|PMID:33077954|PMID:33083010|PMID:33372952|PMID:33600059|PMID:36988593|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9856571 11834437 PTEN phosphatase and tensin homolog gene DOID:3151 skin squamous cell carcinoma ameliorates ISO RGD:1556939|RGD:1323418 D RGD:9068941 20210625 RGD PMID:24582960|REF_RGD_ID:126928134 11834437 PTEN phosphatase and tensin homolog gene DOID:3153 lipomatosis ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11748304 11834437 PTEN phosphatase and tensin homolog gene DOID:3247 rhabdomyosarcoma ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:10848731|PMID:10923032|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11918710|PMID:16773562|PMID:17286265|PMID:18767981|PMID:20085938|PMID:21194675|PMID:21956414|PMID:22266152|PMID:22381246|PMID:23335809|PMID:23470840|PMID:23764071|PMID:23934601|PMID:24033266|PMID:24345843|PMID:25157968|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28526761|PMID:28655553|PMID:29594054|PMID:30614812|PMID:30659124|PMID:33083010|PMID:33372952|PMID:36988593|PMID:9259288|PMID:9467011|PMID:9856571 11834437 PTEN phosphatase and tensin homolog gene DOID:3314 angiomyolipoma ISO RGD:69119 D RGD:9068941 20200609 RGD protein:increased expression:kidney (human) PMID:22737271|REF_RGD_ID:12802360 11834437 PTEN phosphatase and tensin homolog gene DOID:3315 lipoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9286463 11834437 PTEN phosphatase and tensin homolog gene DOID:3459 breast carcinoma ISO RGD:69119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:16773562|PMID:21194675|PMID:28492532|PMID:9467011 11834437 PTEN phosphatase and tensin homolog gene DOID:3565 meningioma ISO RGD:69119 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Meningioma PMID:12085208|PMID:17873882|PMID:19340001|PMID:19458356|PMID:19829307|PMID:22491738|PMID:23349303|PMID:23442912|PMID:24809327|PMID:25741868|PMID:26773036|PMID:27221918|PMID:27535533|PMID:28492532|PMID:28755079|PMID:29373119|PMID:30287823 11834437 PTEN phosphatase and tensin homolog gene DOID:363 uterine cancer ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 11834437 PTEN phosphatase and tensin homolog gene DOID:37 skin disease ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19321504 11834437 PTEN phosphatase and tensin homolog gene DOID:3717 gastric adenocarcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 11834437 PTEN phosphatase and tensin homolog gene DOID:3742 bladder squamous cell carcinoma disease_progression ISO RGD:69119 D RGD:9068941 20210625 RGD associated with schistosomiasis;protein:decreased expression:urothelium (human) PMID:26916953|REF_RGD_ID:127285612 11834437 PTEN phosphatase and tensin homolog gene DOID:3907 lung squamous cell carcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 11834437 PTEN phosphatase and tensin homolog gene DOID:3908 lung non-small cell carcinoma ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:10400993|PMID:10555148|PMID:10920277|PMID:10923032|PMID:11504908|PMID:1336932|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16952599|PMID:17526800|PMID:17873882|PMID:18558293|PMID:18725974|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20453058|PMID:20619739|PMID:20881644|PMID:21194675|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22479427|PMID:22491738|PMID:23335809|PMID:23349303|PMID:23470840|PMID:23475934|PMID:24778394|PMID:25288137|PMID:25741868|PMID:26467025|PMID:26773036|PMID:27426521|PMID:28286253|PMID:28492532|PMID:28526761|PMID:30528446|PMID:30614812|PMID:31336731|PMID:35227301|PMID:36988593|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803 11834437 PTEN phosphatase and tensin homolog gene DOID:3910 lung adenocarcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 11834437 PTEN phosphatase and tensin homolog gene DOID:3962 thyroid gland follicular carcinoma ISO RGD:62287 D RGD:9068941 20220825 MouseDO OMIM:188470 11834437 PTEN phosphatase and tensin homolog gene DOID:4450 renal cell carcinoma ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 11834437 PTEN phosphatase and tensin homolog gene DOID:4450 renal cell carcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 11834437 PTEN phosphatase and tensin homolog gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:69119 D RGD:9068941 20200609 RGD PMID:15821467|REF_RGD_ID:2292513 11834437 PTEN phosphatase and tensin homolog gene DOID:4586 familial meningioma ISO RGD:69119 D RGD:7240710 20230505 OMIM 11834437 PTEN phosphatase and tensin homolog gene DOID:4586 familial meningioma ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10848731|PMID:10866302|PMID:10923032|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11685670|PMID:11918710|PMID:11939587|PMID:14518070|PMID:14566704|PMID:16014636|PMID:16773562|PMID:17286265|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17898811|PMID:17942903|PMID:18767981|PMID:19457929|PMID:20085938|PMID:20301661|PMID:20600018|PMID:20926450|PMID:21194675|PMID:21659347|PMID:21828076|PMID:21956414|PMID:22266152|PMID:22381246|PMID:22595938|PMID:22628360|PMID:23335809|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23764071|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24345843|PMID:24375884|PMID:24766807|PMID:24778394|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25326635|PMID:25669429|PMID:25741868|PMID:25756585|PMID:25875300|PMID:26467025|PMID:26468640|PMID:27477328|PMID:27531073|PMID:27959697|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:29594054|PMID:29706350|PMID:29785012|PMID:29874181|PMID:30287823|PMID:30311380|PMID:30614812|PMID:30659124|PMID:32238909|PMID:32350270|PMID:32366478|PMID:33077954|PMID:33083010|PMID:33372952|PMID:33600059|PMID:33876391|PMID:33887726|PMID:36988593|PMID:9259288|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9600246|PMID:9856571 11834437 PTEN phosphatase and tensin homolog gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:69119 D RGD:9068941 20220519 RGD protein:decreased expression:liver (human) PMID:24796583|REF_RGD_ID:152177907 11834437 PTEN phosphatase and tensin homolog gene DOID:4947 cholangiocarcinoma ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:23376645|REF_RGD_ID:12802341 11834437 PTEN phosphatase and tensin homolog gene DOID:4947 cholangiocarcinoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27022031 11834437 PTEN phosphatase and tensin homolog gene DOID:5041 esophageal cancer ISO RGD:69119 D RGD:9068941 20220630 RGD protein:decreased expression:esophagus (human) PMID:27188433|REF_RGD_ID:152995510 11834437 PTEN phosphatase and tensin homolog gene DOID:5041 esophageal cancer treatment ISO RGD:69119 D RGD:9068941 20210625 RGD human gene and cells in a mouse model PMID:20378992|REF_RGD_ID:127285592 11834437 PTEN phosphatase and tensin homolog gene DOID:5082 liver cirrhosis ISO RGD:62287 D RGD:9068941 20210625 RGD associated with schistosomiasis;protein, mRNA:decreased expression:liver (mouse) PMID:31907686|REF_RGD_ID:127285596 11834437 PTEN phosphatase and tensin homolog gene DOID:5082 liver cirrhosis ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26023714 11834437 PTEN phosphatase and tensin homolog gene DOID:5409 lung small cell carcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 11834437 PTEN phosphatase and tensin homolog gene DOID:5411 lung oat cell carcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung oat cell carcinoma PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 11834437 PTEN phosphatase and tensin homolog gene DOID:5419 schizophrenia ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11834437 PTEN phosphatase and tensin homolog gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:10866302|PMID:11504908|PMID:11801303|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 11834437 PTEN phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:11108659|PMID:12938083|PMID:14566704|PMID:16598737|PMID:16773562|PMID:17427195|PMID:17942903|PMID:20395440|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23934111|PMID:24004025|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:28263302|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30287823|PMID:32295079|PMID:32566746|PMID:9619835 11834437 PTEN phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:11108659|PMID:12938083|PMID:14566704|PMID:16598737|PMID:16773562|PMID:17427195|PMID:17942903|PMID:20395440|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23934111|PMID:24004025|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:28263302|PMID:28492532|PMID:30287823|PMID:32295079|PMID:32566746|PMID:9619835 11834437 PTEN phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:12938083|PMID:14566704|PMID:17427195|PMID:17942903|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:28263302|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30287823|PMID:32295079|PMID:32566746|PMID:9619835 11834437 PTEN phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:12938083|PMID:14566704|PMID:14623110|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23315997|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:27535533|PMID:28263302|PMID:28492532|PMID:28677221|PMID:29706350|PMID:29785012|PMID:30287823|PMID:32234455|PMID:32295079|PMID:32566746|PMID:33471991|PMID:9619835|PMID:9788441 11834437 PTEN phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:12938083|PMID:14566704|PMID:14623110|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23315997|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:27535533|PMID:28263302|PMID:28492532|PMID:28677221|PMID:29706350|PMID:29785012|PMID:30287823|PMID:32234455|PMID:32295079|PMID:32566746|PMID:33471991|PMID:36988593|PMID:9619835|PMID:9788441 11834437 PTEN phosphatase and tensin homolog gene DOID:6171 uterine carcinosarcoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 11834437 PTEN phosphatase and tensin homolog gene DOID:630 genetic disease ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10606430|PMID:10749983|PMID:10848731|PMID:10866302|PMID:11685670|PMID:11918710|PMID:11939587|PMID:12614768|PMID:14518070|PMID:17392703|PMID:17526800|PMID:17576681|PMID:17928923|PMID:17942903|PMID:17954274|PMID:19457929|PMID:20301661|PMID:20600018|PMID:20926450|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22076652|PMID:22381246|PMID:22469695|PMID:22595938|PMID:22970944|PMID:23160955|PMID:23335809|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:24033266|PMID:24052722|PMID:24136893|PMID:24375884|PMID:24766807|PMID:24778394|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25326635|PMID:25525159|PMID:25527629|PMID:25669429|PMID:25741868|PMID:25756585|PMID:25875300|PMID:25980754|PMID:26124082|PMID:26467025|PMID:26468640|PMID:26580448|PMID:26898890|PMID:27477328|PMID:27481051|PMID:27531073|PMID:27535533|PMID:27959697|PMID:28008555|PMID:28086757|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28677221|PMID:29706350|PMID:29706646|PMID:29785012|PMID:30181857|PMID:30287823|PMID:30311380|PMID:30327747|PMID:30614812|PMID:31664961|PMID:32123317|PMID:32238909|PMID:32350270|PMID:32664367|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33600059|PMID:36988593|PMID:9140396|PMID:9256433|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9832032 11834437 PTEN phosphatase and tensin homolog gene DOID:6457 Cowden syndrome ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cowden disease | ClinVar Annotator: match by term: Cowden syndrome | ClinVar Annotator: match by term: Cowden's syndrome | ClinVar Annotator: match by term: Lhermitte-Duclos disease PMID:10051160|PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10848731|PMID:10920277|PMID:10923032|PMID:11504908|PMID:11685670|PMID:14518070|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16952599|PMID:17392703|PMID:17526800|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:18725974|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20453058|PMID:20600018|PMID:20619739|PMID:20881644|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22281088|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22520842|PMID:23335809|PMID:23349303|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23886400|PMID:24033266|PMID:24052722|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25669429|PMID:25741868|PMID:25756585|PMID:26376867|PMID:26467025|PMID:26492180|PMID:26773036|PMID:26845104|PMID:27324988|PMID:27426521|PMID:27477328|PMID:27959697|PMID:28286253|PMID:28492532|PMID:28526761|PMID:29663862|PMID:30287823|PMID:30614812|PMID:30793491|PMID:32238909|PMID:33077954|PMID:8071972|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803 11834437 PTEN phosphatase and tensin homolog gene DOID:6457 Cowden syndrome ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cowden disease | ClinVar Annotator: match by term: Cowden syndrome | ClinVar Annotator: match by term: Cowden's syndrome | ClinVar Annotator: match by term: Lhermitte-Duclos disease PMID:10051160|PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11504908|PMID:11685670|PMID:11875759|PMID:12938083|PMID:1336932|PMID:14518070|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16773562|PMID:16952599|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20600018|PMID:20619739|PMID:20881644|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22520842|PMID:22595938|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23886400|PMID:24033266|PMID:24052722|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25669429|PMID:25741868|PMID:25756585|PMID:26376867|PMID:26467025|PMID:26492180|PMID:26619011|PMID:26773036|PMID:26798346|PMID:26845104|PMID:27324988|PMID:27426521|PMID:27477328|PMID:27959697|PMID:28286253|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28677221|PMID:29359449|PMID:29663862|PMID:29706350|PMID:29785012|PMID:30287823|PMID:30528446|PMID:30614812|PMID:30793491|PMID:31336731|PMID:31594918|PMID:32162695|PMID:32238909|PMID:33077954|PMID:33208383|PMID:33600059|PMID:33876391|PMID:35227301|PMID:36988593|PMID:8071972|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803|PMID:9735393|PMID:9915974 11834437 PTEN phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma ISO RGD:62287 D RGD:9068941 20220630 RGD PMID:29303510|REF_RGD_ID:152995524 11834437 PTEN phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma ISO RGD:62287 D RGD:9068941 20220825 MouseDO OMIM:114550 11834437 PTEN phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27022031 11834437 PTEN phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma ISO RGD:69119 D RGD:9068941 20210625 RGD associated with hepatitis B;protein:decreased expression:liver (human) PMID:30690477|REF_RGD_ID:127285603 11834437 PTEN phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:69119 D RGD:9068941 20210625 RGD associated with hepatitis C, liver cirrhosis;protein:decreased expression:liver (human) PMID:12115563|REF_RGD_ID:127285610 11834437 PTEN phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:69119 D RGD:9068941 20210625 RGD protein:decreased expression:liver (human) PMID:12673720|REF_RGD_ID:127285591 11834437 PTEN phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma severity ISO RGD:69119 D RGD:9068941 20220630 RGD protein:decreased expression:liver (human) PMID:29303510|REF_RGD_ID:152995524 11834437 PTEN phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma treatment ISO RGD:61995 D RGD:9068941 20220422 RGD PMID:31801250|REF_RGD_ID:151893509 11834437 PTEN phosphatase and tensin homolog gene DOID:76 stomach disease ISO RGD:61995 D RGD:9068941 20200609 RGD associated with Hypertension, Portal;protein:increased expression:stomach mucosa PMID:14525948|REF_RGD_ID:1581280 11834437 PTEN phosphatase and tensin homolog gene DOID:8029 sporadic breast cancer ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: (human) PMID:15287024|REF_RGD_ID:12859037 11834437 PTEN phosphatase and tensin homolog gene DOID:83 cataract ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:24270425|REF_RGD_ID:12859033 11834437 PTEN phosphatase and tensin homolog gene DOID:8541 Sezary's disease ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 11834437 PTEN phosphatase and tensin homolog gene DOID:8634 prostate carcinoma in situ ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:18268330|REF_RGD_ID:2292497 11834437 PTEN phosphatase and tensin homolog gene DOID:8634 prostate carcinoma in situ ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19081794|PMID:22581815 11834437 PTEN phosphatase and tensin homolog gene DOID:8719 in situ carcinoma ISO RGD:69119 D RGD:9068941 20200609 RGD associated with Endometrial Neoplasms;protein:decreased expression:endometrium PMID:17349568|REF_RGD_ID:2289828 11834437 PTEN phosphatase and tensin homolog gene DOID:874 bacterial pneumonia ameliorates ISO RGD:62287 D RGD:9068941 20210625 RGD myeloid knockout PMID:21527775|REF_RGD_ID:127285594 11834437 PTEN phosphatase and tensin homolog gene DOID:8761 acute megakaryocytic leukemia ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acute megakaryocytic leukemia PMID:10848731|PMID:17941496|PMID:20600018|PMID:21194675|PMID:21343951|PMID:21659347|PMID:22281088|PMID:22520842|PMID:23335809|PMID:23475934|PMID:23886400|PMID:24778394|PMID:25741868|PMID:26376867|PMID:28492532|PMID:29663862|PMID:35227301 11834437 PTEN phosphatase and tensin homolog gene DOID:8923 skin melanoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 11834437 PTEN phosphatase and tensin homolog gene DOID:8947 diabetic retinopathy ISO RGD:61995 D RGD:9068941 20210219 RGD mRNA, protein:decreased expression:retina PMID:31759996|REF_RGD_ID:41410819 11834437 PTEN phosphatase and tensin homolog gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:69119 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix PMID:17672936|REF_RGD_ID:2298701 11834437 PTEN phosphatase and tensin homolog gene DOID:9000039 Spinal Cord Injuries ISO RGD:61995 D RGD:9068941 20230216 RGD mRNA:increased expression:spinal cord: PMID:28601045|REF_RGD_ID:156420142 11834437 PTEN phosphatase and tensin homolog gene DOID:9000040 Hypertrophy ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19211884 11834437 PTEN phosphatase and tensin homolog gene DOID:9000081 Lymphatic Metastasis ISO RGD:69119 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:17919877|REF_RGD_ID:2292499 11834437 PTEN phosphatase and tensin homolog gene DOID:9000081 Lymphatic Metastasis ISO RGD:69119 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;protein:decreased expression:prostate PMID:17163422|REF_RGD_ID:2292507 11834437 PTEN phosphatase and tensin homolog gene DOID:9000466 Prostate Cancer, Somatic ISO RGD:69119 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Prostate cancer, somatic PMID:9371490 11834437 PTEN phosphatase and tensin homolog gene DOID:9000509 Epstein-Barr Virus Infections ISO RGD:69119 D RGD:9068941 20210625 RGD associated with stomach carcinoma;DNA:hypermethylation:promoter (human) PMID:19339266|REF_RGD_ID:127285616 11834437 PTEN phosphatase and tensin homolog gene DOID:9000918 Disease Progression ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20729295 11834437 PTEN phosphatase and tensin homolog gene DOID:9000965 Neoplasm Metastasis ISO RGD:62287 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:18381417|REF_RGD_ID:2292496 11834437 PTEN phosphatase and tensin homolog gene DOID:9000965 Neoplasm Metastasis ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10978354 11834437 PTEN phosphatase and tensin homolog gene DOID:9001527 Congenital Hypomyelinating Neuropathy ISO RGD:12181883 D RGD:9068941 20210604 OMIA Colorectal hamartomatous polyposis and ganglioneuromatosis PMID:20952721 11834437 PTEN phosphatase and tensin homolog gene DOID:9002106 Pneumococcal Pneumonia ameliorates ISO RGD:62287 D RGD:9068941 20210625 RGD myeloid knockout PMID:20505137|REF_RGD_ID:127285597 11834437 PTEN phosphatase and tensin homolog gene DOID:9002165 Diabetic Nephropathies ISO RGD:61995 D RGD:9068941 20200609 RGD protein:decreased expression:kidney cortex, glomerulus PMID:16804083|REF_RGD_ID:2292546 11834437 PTEN phosphatase and tensin homolog gene DOID:9002304 Prostatic Neoplasms ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:11175795|PMID:18268330|REF_RGD_ID:1302553|REF_RGD_ID:2292497 11834437 PTEN phosphatase and tensin homolog gene DOID:9002304 Prostatic Neoplasms ISO RGD:69119 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:16421604|PMID:17173048|PMID:19081794|PMID:19396168|PMID:20729295|PMID:21456062|PMID:21714127|PMID:22581815|PMID:22610119|PMID:23248098|PMID:28319090|PMID:29295717|PMID:29335545|PMID:29610475|PMID:32525019|PMID:33129824|PMID:9371490 11834437 PTEN phosphatase and tensin homolog gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:11854455|REF_RGD_ID:2292510 11834437 PTEN phosphatase and tensin homolog gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:10400993|PMID:10555148|PMID:10848731|PMID:10920277|PMID:10923032|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11918710|PMID:1336932|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17526800|PMID:17873882|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20453058|PMID:20619739|PMID:20881644|PMID:21194675|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22381246|PMID:22479427|PMID:22491738|PMID:23335809|PMID:23349303|PMID:23470840|PMID:23475934|PMID:23764071|PMID:23934601|PMID:24033266|PMID:24345843|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25741868|PMID:26467025|PMID:26773036|PMID:27426521|PMID:28286253|PMID:28492532|PMID:28526761|PMID:28655553|PMID:29594054|PMID:30528446|PMID:30614812|PMID:30659124|PMID:31336731|PMID:33083010|PMID:33372952|PMID:35227301|PMID:36988593|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803|PMID:9856571 11834437 PTEN phosphatase and tensin homolog gene DOID:9002762 Ovarian Neoplasms ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11918710|PMID:11948419|PMID:1336932|PMID:14518070|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16014636|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17286265|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20600018|PMID:20619739|PMID:20712882|PMID:20881644|PMID:21103832|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22595938|PMID:23117110|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23764071|PMID:23886400|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24292679|PMID:24345843|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25669429|PMID:25741868|PMID:25756585|PMID:26376867|PMID:26467025|PMID:26619011|PMID:26773036|PMID:26795104|PMID:26798346|PMID:27426521|PMID:27477328|PMID:27535533|PMID:27959697|PMID:28235761|PMID:28286253|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:28873162|PMID:29359449|PMID:29594054|PMID:29663862|PMID:29706350|PMID:29706633|PMID:30287823|PMID:30528446|PMID:30614812|PMID:30659124|PMID:31336731|PMID:32238909|PMID:33077954|PMID:33083010|PMID:33372952|PMID:33600059|PMID:34308366|PMID:35227301|PMID:36988593|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9856571|PMID:9915974 11834437 PTEN phosphatase and tensin homolog gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 11834437 PTEN phosphatase and tensin homolog gene DOID:9003816 Macrocephaly ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:10772390|PMID:21828076|PMID:25741868|PMID:28492532 11834437 PTEN phosphatase and tensin homolog gene DOID:9003936 Cardiomegaly ISO RGD:61995 D RGD:9068941 20200609 RGD PMID:16188065|REF_RGD_ID:2292549 11834437 PTEN phosphatase and tensin homolog gene DOID:9003936 Cardiomegaly ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:11448956|REF_RGD_ID:1581282 11834437 PTEN phosphatase and tensin homolog gene DOID:9004009 Reperfusion Injury ISO RGD:61995 D RGD:9068941 20200609 RGD PMID:17239858|REF_RGD_ID:2292538 11834437 PTEN phosphatase and tensin homolog gene DOID:9004009 Reperfusion Injury ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19038262 11834437 PTEN phosphatase and tensin homolog gene DOID:9004118 Experimental Melanoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29179997 11834437 PTEN phosphatase and tensin homolog gene DOID:9004217 Nerve Sheath Neoplasms disease_progression ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:22700876|REF_RGD_ID:12859040 11834437 PTEN phosphatase and tensin homolog gene DOID:9004265 Endometrioid Carcinomas ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity, mutations:multiple (human) PMID:11156411|REF_RGD_ID:12802357 11834437 PTEN phosphatase and tensin homolog gene DOID:9004265 Endometrioid Carcinomas ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:mutations: :multiple PMID:17418409|REF_RGD_ID:2289817 11834437 PTEN phosphatase and tensin homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11834437 PTEN phosphatase and tensin homolog gene DOID:9004464 Skin Neoplasms ISO RGD:62287 D RGD:9068941 20210625 RGD PMID:21771908|REF_RGD_ID:127285609 11834437 PTEN phosphatase and tensin homolog gene DOID:9004547 Thyroid Neoplasms ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:cds: (human) PMID:10793080|REF_RGD_ID:12832747 11834437 PTEN phosphatase and tensin homolog gene DOID:9004547 Thyroid Neoplasms severity ISO RGD:69119 D RGD:9068941 20200609 RGD mRNA:decreased expression:thyroid gland (human) PMID:12203792|REF_RGD_ID:12832749 11834437 PTEN phosphatase and tensin homolog gene DOID:9004575 Neoplasm Invasiveness ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21994956 11834437 PTEN phosphatase and tensin homolog gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:61995 D RGD:9068941 20200609 RGD PMID:15929827|REF_RGD_ID:1581281 11834437 PTEN phosphatase and tensin homolog gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:61995 D RGD:9068941 20200609 RGD associated with Arteriovenous Fistula PMID:22609523|REF_RGD_ID:12801498 11834437 PTEN phosphatase and tensin homolog gene DOID:9004866 Ataxia ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:11726926|REF_RGD_ID:1302554 11834437 PTEN phosphatase and tensin homolog gene DOID:9005172 Lung Neoplasms ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17909629|PMID:27980214 11834437 PTEN phosphatase and tensin homolog gene DOID:9005233 Experimental Mammary Neoplasms onset ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:18381417|REF_RGD_ID:2292496 11834437 PTEN phosphatase and tensin homolog gene DOID:9005369 Hepatomegaly ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:15199412|REF_RGD_ID:1302555 11834437 PTEN phosphatase and tensin homolog gene DOID:9005396 Intimal Hyperplasia ameliorates ISO RGD:69119 D RGD:9068941 20210625 RGD associated with Carotid Artery Injuries, human gene in a rat model PMID:15569824|REF_RGD_ID:127285607 11834437 PTEN phosphatase and tensin homolog gene DOID:9005466 Language Development Disorders ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9286463 11834437 PTEN phosphatase and tensin homolog gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 11834437 PTEN phosphatase and tensin homolog gene DOID:9006534 Nervous System Malformations ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:11685670|PMID:14518070|PMID:17392703|PMID:20301661|PMID:21956414|PMID:22381246|PMID:22595938|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:24033266|PMID:24052722|PMID:24778394|PMID:25157968|PMID:25326635|PMID:25669429|PMID:25741868|PMID:25756585|PMID:27477328|PMID:27959697|PMID:28492532|PMID:28526761|PMID:30287823|PMID:30614812|PMID:32238909|PMID:33077954|PMID:33600059|PMID:9399897|PMID:9467011 11834437 PTEN phosphatase and tensin homolog gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 11834437 PTEN phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10772829|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11355302|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16598737|PMID:16619501|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873882|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194575|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22962422|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24778394|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26362251|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104 11834437 PTEN phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28086757|PMID:28135145|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28774669|PMID:28873162|PMID:29043291|PMID:29048666|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29444762|PMID:29510612|PMID:29533785|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29874181|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30528446|PMID:30614812|PMID:30720243|PMID:30993208|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31336731|PMID:31594918|PMID:32037394|PMID:32190315|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32566746|PMID:33077954|PMID:33624935|PMID:7728760|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 11834437 PTEN phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11355302|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16598737|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873882|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20186503|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22962422|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24778394|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27426521|PMID:27428751 11834437 PTEN phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11355302|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16598737|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873882|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20186503|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22962422|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24778394|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27426521 11834437 PTEN phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27428751|PMID:27477328|PMID:27481051|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28086757|PMID:28135145|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28774669|PMID:28873162|PMID:29048666|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29444762|PMID:29510612|PMID:29533785|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29874181|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30528446|PMID:30614812|PMID:30720243|PMID:30993208|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:31594918|PMID:31871109|PMID:32037394|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32566746|PMID:33077954|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33624935|PMID:7728760|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9832032|PMID:9856571|PMID:9915974 11834437 PTEN phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11355302|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11684570|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16598737|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873882|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20186503|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22962422|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592 11834437 PTEN phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27157322|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28086757|PMID:28135145|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28774669|PMID:28873162|PMID:29048666|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29444762|PMID:29510612|PMID:29533785|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30528446|PMID:30614812|PMID:30720243|PMID:30993208|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:31594918|PMID:31871109|PMID:32037394|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32566746|PMID:33077954|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33624935|PMID:7728760|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9832032|PMID:9856571|PMID:9915974 11834437 PTEN phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11684570|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16598737|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20186503|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532 11834437 PTEN phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27221918|PMID:27324988|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31594918|PMID:31871109|PMID:32037394|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32832836|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33152507|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33600059|PMID:33624935|PMID:33876391|PMID:33887726|PMID:34625746|PMID:35227301|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 11834437 PTEN phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318 11834437 PTEN phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27221918|PMID:27324988|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31594918|PMID:31664961|PMID:31871109|PMID:32003824|PMID:32037394|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32832836|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33152507|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33600059|PMID:33624935|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34492006|PMID:34625746|PMID:35227301|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 11834437 PTEN phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12808147|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448478|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045 11834437 PTEN phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26124082|PMID:26157835|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26633542|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27221918|PMID:27324988|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31594918|PMID:31664961|PMID:31871109|PMID:32003824|PMID:32037394|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32832836|PMID:32885271|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33152507|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33600059|PMID:33624935|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34492006|PMID:34625746|PMID:35227301|PMID:36988593|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 11834437 PTEN phosphatase and tensin homolog gene DOID:9007364 Mouth Neoplasms ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of floor of mouth PMID:10866302|PMID:11504908|PMID:11948419|PMID:17942903|PMID:18767981|PMID:1945792|PMID:20085938|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22327138|PMID:23399955|PMID:23470840|PMID:24292679|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27535533|PMID:28492532|PMID:29706350|PMID:9915974 11834437 PTEN phosphatase and tensin homolog gene DOID:9007367 Septic Peritonitis ameliorates ISO RGD:62287 D RGD:9068941 20210625 RGD associated with Escherichia Coli Infections PMID:21521784|REF_RGD_ID:127285602 11834437 PTEN phosphatase and tensin homolog gene DOID:9007417 Pseudomonas Infections exacerbates ISO RGD:62287 D RGD:9068941 20210625 RGD PMID:29246444|REF_RGD_ID:127285608 11834437 PTEN phosphatase and tensin homolog gene DOID:9007502 Brain Neoplasms ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:10866302|PMID:10923032|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11685670|PMID:11918710|PMID:14518070|PMID:16773562|PMID:17286265|PMID:17392703|PMID:17526800|PMID:17526801|PMID:18767981|PMID:18986487|PMID:19265751|PMID:20085938|PMID:20301661|PMID:20533527|PMID:21194675|PMID:21828076|PMID:21956414|PMID:22266152|PMID:22381246|PMID:22595938|PMID:22628360|PMID:23335809|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23633456|PMID:23695273|PMID:23764071|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24345843|PMID:24721394|PMID:24778394|PMID:25157968|PMID:25326635|PMID:25669429|PMID:25741868|PMID:25756585|PMID:26467025|PMID:27477328|PMID:27959697|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:29594054|PMID:29874181|PMID:30287823|PMID:30614812|PMID:30659124|PMID:32238909|PMID:33077954|PMID:33083010|PMID:33372952|PMID:33600059|PMID:36988593|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9619835|PMID:9856571 11834437 PTEN phosphatase and tensin homolog gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28823542 11834437 PTEN phosphatase and tensin homolog gene DOID:9007653 Multiple Abnormalities ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18759867 11834437 PTEN phosphatase and tensin homolog gene DOID:9007692 Insulin Resistance ISO RGD:61995 D RGD:9068941 20200609 RGD protein:increased expression, decreased acetylation:liver PMID:18385463|REF_RGD_ID:2292521 11834437 PTEN phosphatase and tensin homolog gene DOID:9007692 Insulin Resistance ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18303120 11834437 PTEN phosphatase and tensin homolog gene DOID:9007692 Insulin Resistance ISO RGD:69119 D RGD:9068941 20210625 RGD protein:increased activity:liver (human) PMID:24367090|REF_RGD_ID:127285595 11834437 PTEN phosphatase and tensin homolog gene DOID:9007715 Endometrial Neoplasms ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12888921|PMID:16402032|PMID:16804899|PMID:9326929 11834437 PTEN phosphatase and tensin homolog gene DOID:9007715 Endometrial Neoplasms ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:cds: (human) PMID:9765621|REF_RGD_ID:12832746 11834437 PTEN phosphatase and tensin homolog gene DOID:9007715 Endometrial Neoplasms ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:9354433|REF_RGD_ID:12832753 11834437 PTEN phosphatase and tensin homolog gene DOID:9007715 Endometrial Neoplasms severity ISO RGD:69119 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium PMID:17317031|REF_RGD_ID:2292506 11834437 PTEN phosphatase and tensin homolog gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19038262 11834437 PTEN phosphatase and tensin homolog gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:62287 D RGD:9068941 20210625 RGD PMID:20951693|REF_RGD_ID:127285611 11834437 PTEN phosphatase and tensin homolog gene DOID:9008086 Developmental Disabilities ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:26467025 11834437 PTEN phosphatase and tensin homolog gene DOID:9008090 Chlamydiaceae Infections ISO RGD:62287 D RGD:9068941 20210625 RGD associated with Experimental Allergic Asthma;mRNA:decreased expression:lung (mouse) PMID:27448447|REF_RGD_ID:41404696 11834437 PTEN phosphatase and tensin homolog gene DOID:9008114 Helicobacter Infections ISO RGD:69119 D RGD:9068941 20210625 RGD associated with gastritis;protein:increased phosphorylation:stomach (human) PMID:26376616|REF_RGD_ID:127285599 11834437 PTEN phosphatase and tensin homolog gene DOID:9008138 Ductal Carcinoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29295717 11834437 PTEN phosphatase and tensin homolog gene DOID:9008237 Hemimegalencephaly ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemimegalencephaly PMID:25741868 11834437 PTEN phosphatase and tensin homolog gene DOID:9008443 Colorectal Neoplasms ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:10400993|PMID:10555148|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11504908|PMID:11875759|PMID:11948419|PMID:1336932|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16773562|PMID:16952599|PMID:17526800|PMID:17526801|PMID:17873882|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20619739|PMID:20881644|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22479427|PMID:22491738|PMID:22595938|PMID:23335809|PMID:23349303|PMID:23361946|PMID:23399955|PMID:23470840|PMID:23475934|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25527629|PMID:25741868|PMID:26467025|PMID:26619011|PMID:26773036|PMID:26798346|PMID:27426521|PMID:27477328|PMID:27535533|PMID:28286253|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:30614812|PMID:31159747|PMID:31336731|PMID:32350270|PMID:33077954|PMID:35227301|PMID:36988593|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803|PMID:9915974 11834437 PTEN phosphatase and tensin homolog gene DOID:9008731 Craniofacial Abnormalities ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14574156|PMID:17427195|PMID:18759867|PMID:19265751|PMID:19321504|PMID:9286463 11834437 PTEN phosphatase and tensin homolog gene DOID:9008939 Breast Neoplasms ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:10400993|PMID:10555148|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11504908|PMID:11875759|PMID:11948419|PMID:1336932|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16773562|PMID:16952599|PMID:17526800|PMID:17526801|PMID:17873882|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20619739|PMID:20881644|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22479427|PMID:22491738|PMID:22595938|PMID:23335809|PMID:23349303|PMID:23361946|PMID:23399955|PMID:23470840|PMID:23475934|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25527629|PMID:25741868|PMID:26467025|PMID:26619011|PMID:26773036|PMID:26798346|PMID:27426521|PMID:27477328|PMID:27535533|PMID:28286253|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:30614812|PMID:31159747|PMID:31336731|PMID:32350270|PMID:33077954|PMID:35227301|PMID:36988593|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803|PMID:9915974 11834437 PTEN phosphatase and tensin homolog gene DOID:9008952 Breast Cancer, Familial ISO RGD:69119 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast cancer, familial PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:11684570|PMID:11685670|PMID:14518070|PMID:17392703|PMID:20301661|PMID:21956414|PMID:22381246|PMID:22595938|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:24033266|PMID:24052722|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25549896|PMID:25669429|PMID:25741868|PMID:25756585|PMID:27477328|PMID:27959697|PMID:28492532|PMID:28526761|PMID:30287823|PMID:30614812|PMID:32238909|PMID:33077954|PMID:33600059|PMID:9399897|PMID:9467011 11834437 PTEN phosphatase and tensin homolog gene DOID:9008952 Breast Cancer, Familial ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:11685670|PMID:14518070|PMID:17392703|PMID:20301661|PMID:21956414|PMID:22381246|PMID:22595938|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:24033266|PMID:24052722|PMID:24778394|PMID:25157968|PMID:25326635|PMID:25669429|PMID:25741868|PMID:25756585|PMID:27477328|PMID:27959697|PMID:28492532|PMID:28526761|PMID:30287823|PMID:30614812|PMID:32238909|PMID:33077954|PMID:33600059|PMID:9399897|PMID:9467011 11834437 PTEN phosphatase and tensin homolog gene DOID:9256 colorectal cancer exacerbates ISO RGD:69119 D RGD:9068941 20210625 RGD protein:increased expression:colorectum, cytoplasm (human) PMID:27661110|REF_RGD_ID:127285614 11834437 PTEN phosphatase and tensin homolog gene DOID:9351 diabetes mellitus ISO RGD:61995 D RGD:9068941 20200609 RGD protein:increased expression, increased phosphorylation:inferior vena cava PMID:16961925|REF_RGD_ID:2292543 11834437 PTEN phosphatase and tensin homolog gene DOID:936 brain disease ISO RGD:62287 D RGD:9068941 20220825 MouseDO 11834437 PTEN phosphatase and tensin homolog gene DOID:9408 acute myocardial infarction ISO RGD:61995 D RGD:9068941 20210625 RGD mRNA:decreased expression:heart left ventricle (rat) PMID:26973267|REF_RGD_ID:11526378 11834437 PTEN phosphatase and tensin homolog gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:62287 D RGD:9068941 20230202 RGD PMID:29990866|REF_RGD_ID:155882565 11834437 PTEN phosphatase and tensin homolog gene DOID:9452 fatty liver disease ISO RGD:61995 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:18166358|REF_RGD_ID:2292522 11834437 PTEN phosphatase and tensin homolog gene DOID:9452 fatty liver disease ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:15199412|REF_RGD_ID:1302555 11834437 PTEN phosphatase and tensin homolog gene DOID:9452 fatty liver disease ISO RGD:62287 D RGD:9068941 20220825 MouseDO OMIM:228100 11834437 PTEN phosphatase and tensin homolog gene DOID:9452 fatty liver disease ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27022031 11834437 PTEN phosphatase and tensin homolog gene DOID:9452 fatty liver disease ISO RGD:69119 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:18166358|REF_RGD_ID:2292522 11834437 PTEN phosphatase and tensin homolog gene DOID:9460 uterine corpus cancer ISO RGD:69119 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:29706350|PMID:9256433 11834437 PTEN phosphatase and tensin homolog gene DOID:9884 muscular dystrophy treatment ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:24789910|REF_RGD_ID:12859039 11834437 PTEN phosphatase and tensin homolog gene DOID:9923 developmental coordination disorder ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9286463 11834437 PTEN phosphatase and tensin homolog gene DOID:9952 acute lymphoblastic leukemia ISO RGD:62287 D RGD:9068941 20220825 MouseDO OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 11834455 TATDN2 TatD DNase domain containing 2 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1349644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 11834455 TATDN2 TatD DNase domain containing 2 gene DOID:630 genetic disease ISO RGD:1349644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11834455 TATDN2 TatD DNase domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11834455 TATDN2 TatD DNase domain containing 2 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1349644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 11834475 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:0080016 spina bifida ISO RGD:732147 D RGD:9068941 20200609 RGD PMID:9611072|REF_RGD_ID:1600190 11834475 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:0080074 neural tube defect ISO RGD:732147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12384833|PMID:16552426 11834475 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:0080074 neural tube defect ISO RGD:732147 D RGD:9068941 20200609 RGD PMID:16315005|REF_RGD_ID:1600189 11834475 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:0080074 neural tube defect susceptibility ISO RGD:732147 D RGD:9068941 20200609 RGD DNA:SNP:cds:1958G>A (rs2236225)(human) PMID:25524527|REF_RGD_ID:11086705 11834475 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:0080633 developmental cardiac valvular defect susceptibility ISO RGD:732147 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.R653Q(c.1958G>A)(human) PMID:18767138|REF_RGD_ID:12910957 11834475 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:14250 Down syndrome ISO RGD:732147 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:15068241|REF_RGD_ID:12914150 11834475 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:14250 Down syndrome no_association ISO RGD:732147 D RGD:9068941 20200609 RGD DNA:SNP:cds:1958G>A(human) PMID:22339736|REF_RGD_ID:12910960 11834475 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:14250 Down syndrome susceptibility ISO RGD:732147 D RGD:9068941 20200609 RGD DNA:SNP:cds:1958 G>A (rs2236225)(human) PMID:25671679|REF_RGD_ID:12910959 11834475 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:627 severe combined immunodeficiency ISO RGD:732147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:21813566|PMID:23296427|PMID:23402911|PMID:25548164|PMID:25633902|PMID:25741868|PMID:27707659|PMID:28492532|PMID:31203817|PMID:31589614|PMID:32414565 11834475 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:630 genetic disease ISO RGD:732147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11834475 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:6419 tetralogy of Fallot susceptibility ISO RGD:732147 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.R653Q(c.1958G>A)(human) PMID:18767138|REF_RGD_ID:12910957 11834475 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:674 cleft palate susceptibility ISO RGD:732147 D RGD:9068941 20200609 RGD DNA:SNP:cds:1958 G>A (rs2236225)(human) PMID:18661527|REF_RGD_ID:12914151 11834475 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9001989 Folate-Sensitive Neural Tube Defects ISO RGD:732147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive | ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to | ClinVar Annotator: match by term: Spina bifida, folate-sensitive, susceptibility to PMID:15633187|PMID:16315005|PMID:16552426|PMID:17894836|PMID:18277167|PMID:24033266|PMID:25741868|PMID:28492532 11834475 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9001989 Folate-Sensitive Neural Tube Defects susceptibility ISO RGD:732147 D RGD:7240710 20230517 OMIM 11834475 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:732148 D RGD:9068941 20200609 RGD PMID:22378735|REF_RGD_ID:12910955 11834475 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9002231 Fetal Growth Retardation susceptibility ISO RGD:732147 D RGD:9068941 20200609 RGD DNA:SNP: :401A>G(human) PMID:25118499|REF_RGD_ID:12910958 11834475 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9002231 Fetal Growth Retardation susceptibility ISO RGD:732147 D RGD:9068941 20200609 RGD DNA:SNP:cds:1958G>A(human) PMID:18771981|REF_RGD_ID:12914148 11834475 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9009055 Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia ISO RGD:732147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia PMID:11004530|PMID:15633187|PMID:16199547|PMID:16315005|PMID:16552426|PMID:17894836|PMID:18277167|PMID:21813566|PMID:23296427|PMID:23402911|PMID:24033266|PMID:25548164|PMID:25633902|PMID:25741868|PMID:27707659|PMID:28492532|PMID:31203817|PMID:31589614|PMID:32414565 11834475 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9009055 Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia susceptibility ISO RGD:732147 D RGD:7240710 20230517 OMIM 11834475 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9296 cleft lip no_association ISO RGD:732147 D RGD:9068941 20200609 RGD DNA:SNP:cds:1958G>A(human) PMID:18261183|REF_RGD_ID:12910962 11834475 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9296 cleft lip susceptibility ISO RGD:732147 D RGD:9068941 20200609 RGD DNA:SNP:cds:1958G>A(human) PMID:25129243|REF_RGD_ID:12910961 11834475 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9667 placental abruption ISO RGD:732147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15633187 11834507 SPATA31E1 SPATA31 subfamily E member 1 gene DOID:630 genetic disease ISO RGD:1351279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11834513 BACE1 beta-secretase 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 11834513 BACE1 beta-secretase 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11834513 BACE1 beta-secretase 1 gene DOID:0080690 RASopathy ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11834513 BACE1 beta-secretase 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 11834513 BACE1 beta-secretase 1 gene DOID:0111123 nephronophthisis 15 ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 11834513 BACE1 beta-secretase 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 11834513 BACE1 beta-secretase 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 11834513 BACE1 beta-secretase 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 11834513 BACE1 beta-secretase 1 gene DOID:1059 intellectual disability ISO RGD:1606566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11834513 BACE1 beta-secretase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1606566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16407166 11834513 BACE1 beta-secretase 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1606566 D RGD:9068941 20200609 RGD PMID:12824768|REF_RGD_ID:1358439 11834513 BACE1 beta-secretase 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:1332039 D RGD:9068941 20200609 RGD PMID:29038004|REF_RGD_ID:13782077 11834513 BACE1 beta-secretase 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:2191 D RGD:9068941 20200609 RGD PMID:28763060|REF_RGD_ID:13782083 11834513 BACE1 beta-secretase 1 gene DOID:1307 dementia treatment ISO RGD:2191 D RGD:9068941 20200609 RGD PMID:28683457|REF_RGD_ID:13782142 11834513 BACE1 beta-secretase 1 gene DOID:224 transient cerebral ischemia ISO RGD:2191 D RGD:9068941 20200609 RGD protein:increased activity,increased expression:brain cortex PMID:15120577|REF_RGD_ID:13782170 11834513 BACE1 beta-secretase 1 gene DOID:2491 sensory peripheral neuropathy ISO RGD:2191 D RGD:9068941 20200609 RGD mRNA:decreased expression:dorsal root ganglion PMID:28012171|REF_RGD_ID:13782150 11834513 BACE1 beta-secretase 1 gene DOID:5419 schizophrenia ISO RGD:1332039 D RGD:9068941 20220825 MouseDO OMIM:181500 11834513 BACE1 beta-secretase 1 gene DOID:630 genetic disease ISO RGD:1606566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11834513 BACE1 beta-secretase 1 gene DOID:9001585 Intraventricular Hemorrhage ISO RGD:2191 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:30028260|REF_RGD_ID:13782136 11834513 BACE1 beta-secretase 1 gene DOID:9002211 Hyperalgesia ISO RGD:2191 D RGD:9068941 20200609 RGD PMID:28012171|REF_RGD_ID:13782150 11834513 BACE1 beta-secretase 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:2191 D RGD:9068941 20200609 RGD associated with Sleep Deprivation PMID:28455102|REF_RGD_ID:13782059 11834513 BACE1 beta-secretase 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11834513 BACE1 beta-secretase 1 gene DOID:9007661 Dwarfism ISO RGD:1606566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11834513 BACE1 beta-secretase 1 gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:2191 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:28683457|REF_RGD_ID:13782142 11834513 BACE1 beta-secretase 1 gene DOID:9007980 Sleep Deprivation ISO RGD:2191 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:28455102|REF_RGD_ID:13782059 11834513 BACE1 beta-secretase 1 gene DOID:9009105 HIV Encephalitis ISO RGD:1606566 D RGD:9068941 20200609 RGD PMID:29632166|REF_RGD_ID:13782045 11834530 DGAT2 diacylglycerol O-acyltransferase 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1352737 D RGD:9068941 20200609 RGD PMID:17618857|REF_RGD_ID:10401056 11834530 DGAT2 diacylglycerol O-acyltransferase 2 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:620329 D RGD:9068941 20200609 RGD PMID:24166662|REF_RGD_ID:10400900 11834530 DGAT2 diacylglycerol O-acyltransferase 2 gene DOID:1059 intellectual disability ISO RGD:1352737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11834530 DGAT2 diacylglycerol O-acyltransferase 2 gene DOID:10787 premature menopause ISO RGD:620329 D RGD:9068941 20200609 RGD mRNA:decreased:expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 11834530 DGAT2 diacylglycerol O-acyltransferase 2 gene DOID:13580 cholestasis ISO RGD:1352737 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 11834530 DGAT2 diacylglycerol O-acyltransferase 2 gene DOID:630 genetic disease ISO RGD:1352737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11834530 DGAT2 diacylglycerol O-acyltransferase 2 gene DOID:784 chronic kidney disease ISO RGD:620329 D RGD:9068941 20200609 RGD protein:decreased expression:liver: PMID:23045433|REF_RGD_ID:10400847 11834530 DGAT2 diacylglycerol O-acyltransferase 2 gene DOID:9002331 Knee Osteoarthritis severity ISO RGD:1352737 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:fat pad: PMID:21765106|REF_RGD_ID:6893494 11834530 DGAT2 diacylglycerol O-acyltransferase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352737 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17984051 11834530 DGAT2 diacylglycerol O-acyltransferase 2 gene DOID:9452 fatty liver disease treatment ISO RGD:620329 D RGD:9068941 20200609 RGD PMID:17526931|REF_RGD_ID:10400884 11834548 TM9SF2 transmembrane 9 superfamily member 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1343017 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 11834548 TM9SF2 transmembrane 9 superfamily member 2 gene DOID:14701 propionic acidemia ISO RGD:1343017 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 11834548 TM9SF2 transmembrane 9 superfamily member 2 gene DOID:4621 holoprosencephaly ISO RGD:1343017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 11834548 TM9SF2 transmembrane 9 superfamily member 2 gene DOID:630 genetic disease ISO RGD:1343017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11834548 TM9SF2 transmembrane 9 superfamily member 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1343017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11834548 TM9SF2 transmembrane 9 superfamily member 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1343017 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow, mononuclear cells (human) PMID:12730115|REF_RGD_ID:2317244 11834569 LOC100989398 olfactory receptor 10P1 gene DOID:630 genetic disease ISO RGD:1346412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11834578 SELENBP1 selenium binding protein 1 gene DOID:0080422 Dravet syndrome ISO RGD:733754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 11834578 SELENBP1 selenium binding protein 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:733754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11834578 SELENBP1 selenium binding protein 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:733754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11834578 SELENBP1 selenium binding protein 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:733754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11834578 SELENBP1 selenium binding protein 1 gene DOID:1540 parathyroid carcinoma ISO RGD:733754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11834578 SELENBP1 selenium binding protein 1 gene DOID:1686 glaucoma ISO RGD:733754 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (human) PMID:28990066|REF_RGD_ID:155630605 11834578 SELENBP1 selenium binding protein 1 gene DOID:2468 psychotic disorder ISO RGD:733754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18163446 11834578 SELENBP1 selenium binding protein 1 gene DOID:299 adenocarcinoma ISO RGD:733754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14991897|PMID:15378696 11834578 SELENBP1 selenium binding protein 1 gene DOID:5419 schizophrenia ISO RGD:733754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16223876|PMID:18163446 11834578 SELENBP1 selenium binding protein 1 gene DOID:5812 MHC class II deficiency ISO RGD:733754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11834578 SELENBP1 selenium binding protein 1 gene DOID:630 genetic disease ISO RGD:733754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11834578 SELENBP1 selenium binding protein 1 gene DOID:655 inherited metabolic disorder ISO RGD:733754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29255262 11834578 SELENBP1 selenium binding protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:733754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696|PMID:19424620 11834578 SELENBP1 selenium binding protein 1 gene DOID:9000977 Halitosis ISO RGD:733754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29255262 11834578 SELENBP1 selenium binding protein 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16380993|PMID:18272210 11834578 SELENBP1 selenium binding protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:733754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14991897 11834578 SELENBP1 selenium binding protein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 11834578 SELENBP1 selenium binding protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18435490 11834578 SELENBP1 selenium binding protein 1 gene DOID:9009235 Extraoral Halitosis due to Methanethiol Oxidase Deficiency ISO RGD:733754 D RGD:7240710 20190315 OMIM 11834578 SELENBP1 selenium binding protein 1 gene DOID:9009235 Extraoral Halitosis due to Methanethiol Oxidase Deficiency ISO RGD:733754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Extraoral halitosis due to methanethiol oxidase deficiency PMID:25741868|PMID:29255262 11834578 SELENBP1 selenium binding protein 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11834607 WDFY3 WD repeat and FYVE domain containing 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1316086 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30504930 11834607 WDFY3 WD repeat and FYVE domain containing 3 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1316086 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 PMID:25741868 11834607 WDFY3 WD repeat and FYVE domain containing 3 gene DOID:0070295 primary autosomal dominant microcephaly 18 ISO RGD:1316086 D RGD:7240710 20190315 OMIM 11834607 WDFY3 WD repeat and FYVE domain containing 3 gene DOID:0070295 primary autosomal dominant microcephaly 18 ISO RGD:1316086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 18, primary, autosomal dominant PMID:25741868|PMID:27008544|PMID:31327001 11834607 WDFY3 WD repeat and FYVE domain containing 3 gene DOID:10283 prostate cancer ISO RGD:1316086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11834607 WDFY3 WD repeat and FYVE domain containing 3 gene DOID:1059 intellectual disability ISO RGD:1316086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11834607 WDFY3 WD repeat and FYVE domain containing 3 gene DOID:10907 microcephaly ISO RGD:1316086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11834607 WDFY3 WD repeat and FYVE domain containing 3 gene DOID:12849 autistic disorder ISO RGD:1316086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 11834607 WDFY3 WD repeat and FYVE domain containing 3 gene DOID:630 genetic disease ISO RGD:1316086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32641753 11834607 WDFY3 WD repeat and FYVE domain containing 3 gene DOID:9003816 Macrocephaly ISO RGD:1316086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868|PMID:31327001 11834607 WDFY3 WD repeat and FYVE domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316086 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:27008544|PMID:31327001 11834607 WDFY3 WD repeat and FYVE domain containing 3 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1316086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 11834696 RMI1 RecQ mediated genome instability 1 gene DOID:0080600 COVID-19 ISO RGD:1321710 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11834696 RMI1 RecQ mediated genome instability 1 gene DOID:630 genetic disease ISO RGD:1321710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11834696 RMI1 RecQ mediated genome instability 1 gene DOID:9256 colorectal cancer ISO RGD:1321710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 11834706 SFRP5 secreted frizzled related protein 5 gene DOID:630 genetic disease ISO RGD:1321235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11834706 SFRP5 secreted frizzled related protein 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1321235 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17923031 11834706 SFRP5 secreted frizzled related protein 5 gene DOID:9008939 Breast Neoplasms ISO RGD:1321235 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18283316 11834730 RPL22 ribosomal protein L22 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:733560 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11834730 RPL22 ribosomal protein L22 gene DOID:630 genetic disease ISO RGD:733560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11834730 RPL22 ribosomal protein L22 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11834768 WDR86 WD repeat domain 86 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1604947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 11834768 WDR86 WD repeat domain 86 gene DOID:2843 long QT syndrome ISO RGD:1604947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 11834768 WDR86 WD repeat domain 86 gene DOID:630 genetic disease ISO RGD:1604947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11834800 F11 coagulation factor XI gene DOID:0060903 thrombosis ISO RGD:1319673 D RGD:9068941 20200609 RGD DNA:SNPs:intron: rs2289252,rs2036914(human) PMID:22633531|REF_RGD_ID:11041774 11834800 F11 coagulation factor XI gene DOID:0060903 thrombosis susceptibility ISO RGD:1319673 D RGD:9068941 20200609 RGD DNA:SNPs:intron: rs2289252,rs2036914(human) PMID:19583818|REF_RGD_ID:11041778 11834800 F11 coagulation factor XI gene DOID:10763 hypertension ISO RGD:1319673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6383834 11834800 F11 coagulation factor XI gene DOID:12849 autistic disorder ISO RGD:1319673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11834800 F11 coagulation factor XI gene DOID:2213 hemorrhagic disease ISO RGD:1319673 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:10593931|PMID:11122101|PMID:15026311|PMID:15140127|PMID:15531455|PMID:16079124|PMID:16519703|PMID:16835901|PMID:18515884|PMID:20015217|PMID:2052060|PMID:21668437|PMID:23929304|PMID:24033266|PMID:24982842|PMID:25741868|PMID:2813350|PMID:28492532|PMID:31064749|PMID:34355501|PMID:9326232 11834800 F11 coagulation factor XI gene DOID:2222 factor X deficiency ISO RGD:1319673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital factor X deficiency PMID:25741868|PMID:31064749 11834800 F11 coagulation factor XI gene DOID:2229 factor XI deficiency ISO RGD:1319673 D RGD:7240710 20180130 OMIM 11834800 F11 coagulation factor XI gene DOID:2229 factor XI deficiency ISO RGD:1319673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar Annotator: match by term: Plasma factor XI deficiency PMID:10444286|PMID:10593931|PMID:10606881|PMID:10706758|PMID:11122101|PMID:11127865|PMID:11418471|PMID:11895778|PMID:12586617|PMID:12716376|PMID:12879434|PMID:14508802|PMID:14717969|PMID:15026311|PMID:15090552|PMID:15140127|PMID:15140147|PMID:15180874|PMID:15456490|PMID:1547342|PMID:15531455|PMID:15634276|PMID:15728123|PMID:15749683|PMID:15842381|PMID:15870541|PMID:15946525|PMID:15953011|PMID:15968392|PMID:16079124|PMID:16086308|PMID:16199547|PMID:16519703|PMID:16607084|PMID:16787881|PMID:16835901|PMID:17229051|PMID:17549289|PMID:17576681|PMID:18005151|PMID:18024374|PMID:18327400|PMID:18388506|PMID:18446632|PMID:18515884|PMID:18758779|PMID:18832909|PMID:18839438|PMID:19367158|PMID:19652879|PMID:20015217|PMID:20398070|PMID:2052060|PMID:20523169|PMID:21192253|PMID:21457405|PMID:21649796|PMID:21668437|PMID:21718436|PMID:21824284|PMID:22016685|PMID:22159456|PMID:22197449|PMID:23305485|PMID:23315997|PMID:23332144|PMID:23929304|PMID:24033266|PMID:24112640|PMID:24982842|PMID:25074526|PMID:25158988|PMID:25681615|PMID:25741868|PMID:25741869|PMID:26558335|PMID:26879396|PMID:27067486|PMID:27710856|PMID:27723456|PMID:2813350|PMID:28445521|PMID:28492532|PMID:28615222|PMID:28960694|PMID:29138690|PMID:29178608|PMID:29367083|PMID:31064749|PMID:31644447|PMID:32220196|PMID:32333264|PMID:32581362|PMID:32596782|PMID:34355501|PMID:7669672|PMID:7888672|PMID:8832909|PMID:9326232|PMID:9401068|PMID:9536098|PMID:9787168 11834800 F11 coagulation factor XI gene DOID:3490 Noonan syndrome ISO RGD:1319673 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:3354599|REF_RGD_ID:11041743 11834800 F11 coagulation factor XI gene DOID:3525 middle cerebral artery infarction ISO RGD:1319674 D RGD:9068941 20200609 RGD PMID:16533887|REF_RGD_ID:11041786 11834800 F11 coagulation factor XI gene DOID:630 genetic disease ISO RGD:1319673 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10593931|PMID:15026311|PMID:15140127|PMID:16835901|PMID:2052060|PMID:23929304|PMID:24033266|PMID:25741868|PMID:2813350|PMID:28492532|PMID:31064749|PMID:34355501|PMID:9326232 11834800 F11 coagulation factor XI gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1319673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral hemorrhage 11834800 F11 coagulation factor XI gene DOID:9003281 Spontaneous Abortions ISO RGD:1319673 D RGD:9068941 20200609 RGD protein:increased activity:blood: PMID:25517908|REF_RGD_ID:11041767 11834800 F11 coagulation factor XI gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:1319673 D RGD:9068941 20200609 RGD protein:increased activity:blood: PMID:10706899|REF_RGD_ID:11041768 11834800 F11 coagulation factor XI gene DOID:9004484 Sepsis ISO RGD:1309364 D RGD:9068941 20200609 RGD PMID:12000738|REF_RGD_ID:1598921 11834800 F11 coagulation factor XI gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1319673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 11834824 TARS1 threonyl-tRNA synthetase 1 gene DOID:0111870 nonphotosensitive trichothiodystrophy 7 ISO RGD:1347839 D RGD:7240710 20190911 OMIM 11834824 TARS1 threonyl-tRNA synthetase 1 gene DOID:0111870 nonphotosensitive trichothiodystrophy 7 ISO RGD:1347839 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 7, nonphotosensitive PMID:25741868|PMID:28492532|PMID:31374204 11834824 TARS1 threonyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1347839 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11834824 TARS1 threonyl-tRNA synthetase 1 gene DOID:633 myositis ISO RGD:1347839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23425968 11834824 TARS1 threonyl-tRNA synthetase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11834856 LOC103784759 zinc finger protein 415 gene DOID:630 genetic disease ISO RGD:1350513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11834924 ZC3H7A zinc finger CCCH-type containing 7A gene DOID:5419 schizophrenia ISO RGD:1322571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11834924 ZC3H7A zinc finger CCCH-type containing 7A gene DOID:630 genetic disease ISO RGD:1322571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11834959 CCN3 cellular communication network factor 3 gene DOID:0080600 COVID-19 ISO RGD:732996 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11834959 CCN3 cellular communication network factor 3 gene DOID:10534 stomach cancer severity ISO RGD:732996 D RGD:9068941 20220616 RGD mRNA:altered expression:stomach tumor (human) PMID:28035468|REF_RGD_ID:152995287 11834959 CCN3 cellular communication network factor 3 gene DOID:10591 pre-eclampsia ISO RGD:732996 D RGD:9068941 20200609 RGD protein:decreased expression:placenta (human) PMID:16675545|REF_RGD_ID:1580971 11834959 CCN3 cellular communication network factor 3 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:732996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11834959 CCN3 cellular communication network factor 3 gene DOID:206 hereditary multiple exostoses ISO RGD:732996 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 11834959 CCN3 cellular communication network factor 3 gene DOID:2843 long QT syndrome ISO RGD:732996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11834968 PRKACA protein kinase cAMP-activated catalytic subunit alpha gene DOID:0050891 adrenal cortical adenoma ISO RGD:1344608 D RGD:9068941 20200609 RGD associated with Cushing syndrome;DNA:point mutation:CDS:p.L206R (c.617T>G) (human) PMID:24855271|REF_RGD_ID:13515122 11834968 PRKACA protein kinase cAMP-activated catalytic subunit alpha gene DOID:0080182 mixed fibrolamellar hepatocellular carcinoma susceptibility ISO RGD:1312337 D RGD:9068941 20220204 RGD PMID:28923495|REF_RGD_ID:151347843 11834968 PRKACA protein kinase cAMP-activated catalytic subunit alpha gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1344608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29341352 11834968 PRKACA protein kinase cAMP-activated catalytic subunit alpha gene DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 ISO RGD:1344608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ACTH-independent adrenal Cushing syndrome, somatic PMID:24571724|PMID:24700472|PMID:24747643|PMID:24855271 11834968 PRKACA protein kinase cAMP-activated catalytic subunit alpha gene DOID:2316 brain ischemia ISO RGD:3389 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus, cerebral cortex, nucleus PMID:12150772|REF_RGD_ID:7327190 11834968 PRKACA protein kinase cAMP-activated catalytic subunit alpha gene DOID:4947 cholangiocarcinoma ISO RGD:1344608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26258846 11834968 PRKACA protein kinase cAMP-activated catalytic subunit alpha gene DOID:5015 fibrolamellar carcinoma ISO RGD:1312336 D RGD:9068941 20220204 RGD mRNA,protein:increased expression:liver (human) PMID:27027723|REF_RGD_ID:151347845 11834968 PRKACA protein kinase cAMP-activated catalytic subunit alpha gene DOID:6000 congestive heart failure ISO RGD:1344608 D RGD:9068941 20200609 RGD PMID:10830164|REF_RGD_ID:1580714 11834968 PRKACA protein kinase cAMP-activated catalytic subunit alpha gene DOID:630 genetic disease ISO RGD:1344608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11834968 PRKACA protein kinase cAMP-activated catalytic subunit alpha gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:1344608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747643 11834968 PRKACA protein kinase cAMP-activated catalytic subunit alpha gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:3389 D RGD:9068941 20200609 RGD PMID:7769990|REF_RGD_ID:7327191 11834968 PRKACA protein kinase cAMP-activated catalytic subunit alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11834968 PRKACA protein kinase cAMP-activated catalytic subunit alpha gene DOID:9004765 Cardioacrofacial Dysplasia 1 ISO RGD:1344608 D RGD:7240710 20210113 OMIM 11834968 PRKACA protein kinase cAMP-activated catalytic subunit alpha gene DOID:9004765 Cardioacrofacial Dysplasia 1 ISO RGD:1344608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardioacrofacial dysplasia 1 PMID:25741868|PMID:33058759 11834968 PRKACA protein kinase cAMP-activated catalytic subunit alpha gene DOID:9006355 Primary Pigmented Nodular Adrenocortical Disease, 4 ISO RGD:1344608 D RGD:7240710 20180130 OMIM 11834968 PRKACA protein kinase cAMP-activated catalytic subunit alpha gene DOID:9006355 Primary Pigmented Nodular Adrenocortical Disease, 4 ISO RGD:1344608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 4 PMID:24571724|PMID:24700472|PMID:24747643|PMID:24855271 11834987 MAPKAPK5 MAPK activated protein kinase 5 gene DOID:630 genetic disease ISO RGD:1354160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11834987 MAPKAPK5 MAPK activated protein kinase 5 gene DOID:9004830 NEUROCARDIOFACIODIGITAL SYNDROME ISO RGD:1354160 D RGD:7240710 20220629 OMIM 11834987 MAPKAPK5 MAPK activated protein kinase 5 gene DOID:9004830 NEUROCARDIOFACIODIGITAL SYNDROME ISO RGD:1354160 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neurocardiofaciodigital syndrome PMID:25741868|PMID:33442026 11835026 TWIST2 twist family bHLH transcription factor 2 gene DOID:0060549 Barber-Say syndrome ISO RGD:735468 D RGD:7240710 20180130 OMIM 11835026 TWIST2 twist family bHLH transcription factor 2 gene DOID:0060549 Barber-Say syndrome ISO RGD:735468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Barber-Say syndrome PMID:16650233|PMID:1867254|PMID:19760652|PMID:20799330|PMID:20830793|PMID:25741868|PMID:26119818|PMID:27092433|PMID:28680619|PMID:8368246|PMID:9674915 11835026 TWIST2 twist family bHLH transcription factor 2 gene DOID:0060550 ablepharon macrostomia syndrome ISO RGD:735468 D RGD:7240710 20180130 OMIM 11835026 TWIST2 twist family bHLH transcription factor 2 gene DOID:0060550 ablepharon macrostomia syndrome ISO RGD:735468 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ablepharon macrostomia syndrome PMID:11038439|PMID:11807864|PMID:15103726|PMID:2036354|PMID:21595001|PMID:25741868|PMID:26119818|PMID:8746822 11835026 TWIST2 twist family bHLH transcription factor 2 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:735468 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11835026 TWIST2 twist family bHLH transcription factor 2 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:735468 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11835026 TWIST2 twist family bHLH transcription factor 2 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:735468 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11835026 TWIST2 twist family bHLH transcription factor 2 gene DOID:1059 intellectual disability ISO RGD:735468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11835026 TWIST2 twist family bHLH transcription factor 2 gene DOID:630 genetic disease ISO RGD:735468 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11038439|PMID:11807864|PMID:15103726|PMID:2036354|PMID:21595001|PMID:25741868|PMID:26119818|PMID:8746822 11835026 TWIST2 twist family bHLH transcription factor 2 gene DOID:9000745 Focal Facial Dermal Dysplasia ISO RGD:735468 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism 11835026 TWIST2 twist family bHLH transcription factor 2 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:735468 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11835026 TWIST2 twist family bHLH transcription factor 2 gene DOID:9003398 Focal Facial Dermal Dysplasia 3 ISO RGD:735468 D RGD:7240710 20180130 OMIM 11835026 TWIST2 twist family bHLH transcription factor 2 gene DOID:9003398 Focal Facial Dermal Dysplasia 3 ISO RGD:735468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal facial dermal dysplasia 3, Setleis type PMID:14069095|PMID:20691403|PMID:21931173|PMID:8818454 11835032 HNMT histamine N-methyltransferase gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:733644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 11835032 HNMT histamine N-methyltransferase gene DOID:0060500 drug allergy ISO RGD:733644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 11835032 HNMT histamine N-methyltransferase gene DOID:0081214 autosomal recessive intellectual developmental disorder 51 ISO RGD:733644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 51 PMID:25741868|PMID:26206890|PMID:28492532 11835032 HNMT histamine N-methyltransferase gene DOID:0081214 autosomal recessive intellectual developmental disorder 51 susceptibility ISO RGD:733644 D RGD:7240710 20230517 OMIM 11835032 HNMT histamine N-methyltransferase gene DOID:11870 Pick's disease ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:11880199|REF_RGD_ID:5509779 11835032 HNMT histamine N-methyltransferase gene DOID:12858 Huntington's disease ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:21106039|REF_RGD_ID:5509774 11835032 HNMT histamine N-methyltransferase gene DOID:14250 Down syndrome ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:11880199|REF_RGD_ID:5509779 11835032 HNMT histamine N-methyltransferase gene DOID:14330 Parkinson's disease ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:17985251|REF_RGD_ID:5509778 11835032 HNMT histamine N-methyltransferase gene DOID:14330 Parkinson's disease no_association ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:19773194|REF_RGD_ID:5509775 11835032 HNMT histamine N-methyltransferase gene DOID:1555 urticaria ISO RGD:733644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 11835032 HNMT histamine N-methyltransferase gene DOID:2841 asthma ISO RGD:733644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma, susceptibility to PMID:10752634|PMID:10803682|PMID:16205835 11835032 HNMT histamine N-methyltransferase gene DOID:2841 asthma no_association ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:15693910|PMID:16205835|PMID:17651147|REF_RGD_ID:5128885|REF_RGD_ID:5128887|REF_RGD_ID:5128888 11835032 HNMT histamine N-methyltransferase gene DOID:2841 asthma susceptibility ISO RGD:733644 D RGD:7240710 20230517 OMIM 11835032 HNMT histamine N-methyltransferase gene DOID:3310 atopic dermatitis ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:19025430|REF_RGD_ID:5128889 11835032 HNMT histamine N-methyltransferase gene DOID:3454 brain infarction severity ISO RGD:71049 D RGD:9068941 20200609 RGD PMID:16330002|PMID:21131122|REF_RGD_ID:5509772|REF_RGD_ID:5509773 11835032 HNMT histamine N-methyltransferase gene DOID:4483 rhinitis ISO RGD:733644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17651147 11835032 HNMT histamine N-methyltransferase gene DOID:4483 rhinitis no_association ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:17651147|REF_RGD_ID:5128885 11835032 HNMT histamine N-methyltransferase gene DOID:4990 essential tremor ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:18543121|REF_RGD_ID:5509776 11835032 HNMT histamine N-methyltransferase gene DOID:4990 essential tremor no_association ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:19773194|REF_RGD_ID:5509775 11835032 HNMT histamine N-methyltransferase gene DOID:5419 schizophrenia no_association ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:10898922|REF_RGD_ID:5509780 11835032 HNMT histamine N-methyltransferase gene DOID:630 genetic disease ISO RGD:733644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835032 HNMT histamine N-methyltransferase gene DOID:8577 ulcerative colitis ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:18340362|REF_RGD_ID:5509777 11835032 HNMT histamine N-methyltransferase gene DOID:9000772 Bronchial Hyperreactivity no_association ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:15693910|REF_RGD_ID:5128888 11835053 BZW1 basic leucine zipper and W2 domains 1 gene DOID:1909 melanoma ISO RGD:1347888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11835053 BZW1 basic leucine zipper and W2 domains 1 gene DOID:630 genetic disease ISO RGD:1347888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835053 BZW1 basic leucine zipper and W2 domains 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1347888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 11835053 BZW1 basic leucine zipper and W2 domains 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11835089 SCN3B sodium voltage-gated channel beta subunit 3 gene DOID:0050451 Brugada syndrome ISO RGD:1350710 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:20031595|PMID:21051419|PMID:22284586|PMID:23257389|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24144883|PMID:25650408|PMID:25741868|PMID:25757662|PMID:28492532|PMID:29247119|PMID:30821013|PMID:31019283|PMID:31043699 11835089 SCN3B sodium voltage-gated channel beta subunit 3 gene DOID:0050700 cardiomyopathy ISO RGD:1350710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23257389|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27435932|PMID:27711072|PMID:28492532|PMID:30662450 11835089 SCN3B sodium voltage-gated channel beta subunit 3 gene DOID:0110224 Brugada syndrome 7 ISO RGD:1350710 D RGD:7240710 20180130 OMIM 11835089 SCN3B sodium voltage-gated channel beta subunit 3 gene DOID:0110224 Brugada syndrome 7 ISO RGD:1350710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 16 | ClinVar Annotator: match by term: Brugada syndrome 7 PMID:16199547|PMID:17576681|PMID:20031595|PMID:20042427|PMID:20226894|PMID:20558140|PMID:21051419|PMID:22284586|PMID:23257389|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24144883|PMID:24529773|PMID:25650408|PMID:25741868|PMID:25757662|PMID:26179811|PMID:27435932|PMID:27711072|PMID:28166811|PMID:28492532|PMID:29247119|PMID:30662450|PMID:30821013|PMID:30847666|PMID:31019283|PMID:31043699|PMID:9536098 11835089 SCN3B sodium voltage-gated channel beta subunit 3 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1350710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11835089 SCN3B sodium voltage-gated channel beta subunit 3 gene DOID:5419 schizophrenia ISO RGD:1350710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11835089 SCN3B sodium voltage-gated channel beta subunit 3 gene DOID:630 genetic disease ISO RGD:1350710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11835089 SCN3B sodium voltage-gated channel beta subunit 3 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1350710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:27435932|PMID:28492532 11835089 SCN3B sodium voltage-gated channel beta subunit 3 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1350710 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:20031595|PMID:21051419|PMID:22284586|PMID:23257389|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24144883|PMID:25650408|PMID:25741868|PMID:25757662|PMID:28492532|PMID:29247119|PMID:30821013|PMID:31019283|PMID:31043699 11835089 SCN3B sodium voltage-gated channel beta subunit 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1350710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11835089 SCN3B sodium voltage-gated channel beta subunit 3 gene DOID:9006030 Infant Death ISO RGD:1350710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Death in infancy PMID:23257389|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27435932|PMID:27711072|PMID:28492532|PMID:30662450 11835089 SCN3B sodium voltage-gated channel beta subunit 3 gene DOID:9007661 Dwarfism ISO RGD:1350710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11835089 SCN3B sodium voltage-gated channel beta subunit 3 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1350710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death 11835101 TMEM150C transmembrane protein 150C gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:3564030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 11835101 TMEM150C transmembrane protein 150C gene DOID:630 genetic disease ISO RGD:3564030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835101 TMEM150C transmembrane protein 150C gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:3564030 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11835113 LOC100973708 olfactory receptor 4D9 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11835113 LOC100973708 olfactory receptor 4D9 gene DOID:1059 intellectual disability ISO RGD:1606644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11835113 LOC100973708 olfactory receptor 4D9 gene DOID:630 genetic disease ISO RGD:1606644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835116 CALCRL calcitonin receptor like receptor gene DOID:0080600 COVID-19 ISO RGD:733108 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11835116 CALCRL calcitonin receptor like receptor gene DOID:3042 allergic contact dermatitis ISO RGD:733108 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 11835116 CALCRL calcitonin receptor like receptor gene DOID:630 genetic disease ISO RGD:733108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835116 CALCRL calcitonin receptor like receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11835116 CALCRL calcitonin receptor like receptor gene DOID:9006957 Lymphatic Malformation 8 ISO RGD:733108 D RGD:7240710 20200226 OMIM 11835116 CALCRL calcitonin receptor like receptor gene DOID:9006957 Lymphatic Malformation 8 ISO RGD:733108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 8 PMID:25741868 11835141 MRPS26 mitochondrial ribosomal protein S26 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1318680 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11835141 MRPS26 mitochondrial ribosomal protein S26 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1318680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11835141 MRPS26 mitochondrial ribosomal protein S26 gene DOID:630 genetic disease ISO RGD:1318680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835146 DPP7 dipeptidyl peptidase 7 gene DOID:0050777 Joubert syndrome ISO RGD:733882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11835146 DPP7 dipeptidyl peptidase 7 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:733882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11835146 DPP7 dipeptidyl peptidase 7 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:733882 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11835146 DPP7 dipeptidyl peptidase 7 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:733882 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11835146 DPP7 dipeptidyl peptidase 7 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:733882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11835146 DPP7 dipeptidyl peptidase 7 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:733882 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11835146 DPP7 dipeptidyl peptidase 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:733882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 11835146 DPP7 dipeptidyl peptidase 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:733882 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11835146 DPP7 dipeptidyl peptidase 7 gene DOID:0081097 Rafiq syndrome ISO RGD:733882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11835146 DPP7 dipeptidyl peptidase 7 gene DOID:1826 epilepsy ISO RGD:733882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11835146 DPP7 dipeptidyl peptidase 7 gene DOID:3652 Leigh disease ISO RGD:733882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11835146 DPP7 dipeptidyl peptidase 7 gene DOID:630 genetic disease ISO RGD:733882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835146 DPP7 dipeptidyl peptidase 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11835146 DPP7 dipeptidyl peptidase 7 gene DOID:9005749 Necrosis ISO RGD:733882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16725115 11835146 DPP7 dipeptidyl peptidase 7 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:733882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11835159 FBXO40 F-box protein 40 gene DOID:12849 autistic disorder ISO RGD:1320304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19404257 11835159 FBXO40 F-box protein 40 gene DOID:630 genetic disease ISO RGD:1320304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835159 FBXO40 F-box protein 40 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1320304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 11835159 FBXO40 F-box protein 40 gene DOID:9270 alkaptonuria ISO RGD:1320304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11835168 MTO1 mitochondrial tRNA translation optimization 1 gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1553062 D RGD:9068941 20220825 MouseDO OMIM:300816 | OMIM:609060 | OMIM:610498 | OMIM:610505 | OMIM:610678 | OMIM:611719 | OMIM:613559 | OMIM:614096 | OMIM:614582 | OMIM:614702 | OMIM:614922 | OMIM:614924 | OMIM:614932 | OMIM:614946 | OMIM:614947 | OMIM:615395 | OMIM:615440 | OMIM:615578 | OMIM:615595 | OMIM:615917 | OMIM:615918 | OMIM:616045 | OMIM:616198 | OMIM:616239 11835168 MTO1 mitochondrial tRNA translation optimization 1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1318828 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder PMID:22608499|PMID:23929671|PMID:24033266|PMID:25058219|PMID:25741868|PMID:25741892|PMID:28492532 11835168 MTO1 mitochondrial tRNA translation optimization 1 gene DOID:0111480 combined oxidative phosphorylation deficiency 10 ISO RGD:1318828 D RGD:7240710 20180130 OMIM 11835168 MTO1 mitochondrial tRNA translation optimization 1 gene DOID:0111480 combined oxidative phosphorylation deficiency 10 ISO RGD:1318828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency PMID:16199547|PMID:17576681|PMID:22608499|PMID:23929671|PMID:24033266|PMID:25058219|PMID:25552653|PMID:25640679|PMID:25741868|PMID:25741892|PMID:26061759|PMID:26539891|PMID:27151179|PMID:27256614|PMID:28492532|PMID:29331171|PMID:29440775|PMID:30369941|PMID:30831263|PMID:31451716|PMID:31842146|PMID:33258288|PMID:33586140|PMID:9536098 11835168 MTO1 mitochondrial tRNA translation optimization 1 gene DOID:3659 sialuria ISO RGD:1318828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 11835168 MTO1 mitochondrial tRNA translation optimization 1 gene DOID:630 genetic disease ISO RGD:1318828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22608499|PMID:25058219|PMID:25741868|PMID:28492532|PMID:31842146 11835168 MTO1 mitochondrial tRNA translation optimization 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1318828 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22608499|PMID:23929671|PMID:24033266|PMID:25058219|PMID:25741868|PMID:25741892|PMID:28492532 11835197 SULF1 sulfatase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:733350 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11835197 SULF1 sulfatase 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:733350 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30127996 11835197 SULF1 sulfatase 1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:733350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 11835197 SULF1 sulfatase 1 gene DOID:630 genetic disease ISO RGD:733350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11835197 SULF1 sulfatase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733350 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17310998 11835233 DNAI4 dynein axonemal intermediate chain 4 gene DOID:1059 intellectual disability ISO RGD:1605635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11835233 DNAI4 dynein axonemal intermediate chain 4 gene DOID:630 genetic disease ISO RGD:1605635 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835254 KSR2 kinase suppressor of ras 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1351357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:24209692|PMID:25741868 11835254 KSR2 kinase suppressor of ras 2 gene DOID:11981 morbid obesity ISO RGD:1351357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 11835254 KSR2 kinase suppressor of ras 2 gene DOID:630 genetic disease ISO RGD:1351357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11835254 KSR2 kinase suppressor of ras 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:24209692|PMID:25741868 11835294 STT3A STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:0080572 congenital disorder of glycosylation Iw ISO RGD:1342989 D RGD:7240710 20180130 OMIM 11835294 STT3A STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:0080572 congenital disorder of glycosylation Iw ISO RGD:1342989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1w | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Iw, autosomal dominant PMID:23842455|PMID:25741868|PMID:28424003|PMID:28492532|PMID:34653363 11835294 STT3A STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:0080600 COVID-19 ISO RGD:1342989 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11835294 STT3A STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:0110877 holoprosencephaly 11 ISO RGD:1342989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11835294 STT3A STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:0111723 Jacobsen Syndrome ISO RGD:1342989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11835294 STT3A STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:10907 microcephaly ISO RGD:1342989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11835294 STT3A STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:3652 Leigh disease ISO RGD:1342989 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868 11835294 STT3A STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:5419 schizophrenia ISO RGD:1342989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11835294 STT3A STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:630 genetic disease ISO RGD:1342989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11835294 STT3A STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1342989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11835294 STT3A STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:9007661 Dwarfism ISO RGD:1342989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11835328 HEXIM1 HEXIM P-TEFb complex subunit 1 gene DOID:630 genetic disease ISO RGD:1606576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835328 HEXIM1 HEXIM P-TEFb complex subunit 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11835333 FKBP9 FKBP prolyl isomerase 9 gene DOID:0080600 COVID-19 ISO RGD:1354428 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11835333 FKBP9 FKBP prolyl isomerase 9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1354428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11835333 FKBP9 FKBP prolyl isomerase 9 gene DOID:630 genetic disease ISO RGD:1354428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835347 PLCH1 phospholipase C eta 1 gene DOID:630 genetic disease ISO RGD:1349228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835347 PLCH1 phospholipase C eta 1 gene DOID:9001056 Holoprosencephaly 14 ISO RGD:1349228 D RGD:7240710 20220608 OMIM 11835347 PLCH1 phospholipase C eta 1 gene DOID:9001056 Holoprosencephaly 14 ISO RGD:1349228 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 14 PMID:33820834 11835395 TNFRSF19 TNF receptor superfamily member 19 gene DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C ISO RGD:1344271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2C PMID:18285821|PMID:28492532 11835395 TNFRSF19 TNF receptor superfamily member 19 gene DOID:1826 epilepsy ISO RGD:1344271 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11835395 TNFRSF19 TNF receptor superfamily member 19 gene DOID:1909 melanoma ISO RGD:1344271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17187358 11835395 TNFRSF19 TNF receptor superfamily member 19 gene DOID:5419 schizophrenia ISO RGD:1344271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11835395 TNFRSF19 TNF receptor superfamily member 19 gene DOID:607 paraplegia ISO RGD:1344271 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11835395 TNFRSF19 TNF receptor superfamily member 19 gene DOID:630 genetic disease ISO RGD:1344271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835395 TNFRSF19 TNF receptor superfamily member 19 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:1344271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20512145 11835422 MCM7 minichromosome maintenance complex component 7 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1347363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:25741868|PMID:33654309 11835422 MCM7 minichromosome maintenance complex component 7 gene DOID:11782 astigmatism ISO RGD:1347363 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Astigmatism PMID:25741868|PMID:33654309 11835422 MCM7 minichromosome maintenance complex component 7 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1347363 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreatic duct PMID:15548371|REF_RGD_ID:2317697 11835422 MCM7 minichromosome maintenance complex component 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11835422 MCM7 minichromosome maintenance complex component 7 gene DOID:630 genetic disease ISO RGD:1347363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835422 MCM7 minichromosome maintenance complex component 7 gene DOID:684 hepatocellular carcinoma ISO RGD:1303018 D RGD:9068941 20200609 RGD associated with hepatitis B;miRNA:increased expression:liver (human) PMID:27298561|REF_RGD_ID:15042853 11835422 MCM7 minichromosome maintenance complex component 7 gene DOID:684 hepatocellular carcinoma ISO RGD:1347363 D RGD:9068941 20200609 RGD associated with hepatitis B;miRNA:increased expression:liver (human) PMID:27298561|REF_RGD_ID:15042853 11835422 MCM7 minichromosome maintenance complex component 7 gene DOID:684 hepatocellular carcinoma ISO RGD:1557018 D RGD:9068941 20200609 RGD associated with hepatitis B;miRNA:increased expression:liver (human) PMID:27298561|REF_RGD_ID:15042853 11835422 MCM7 minichromosome maintenance complex component 7 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1303018 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:SNP:promoter: (rs999885) (human) PMID:24416400|REF_RGD_ID:15042885 11835422 MCM7 minichromosome maintenance complex component 7 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1347363 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:SNP:promoter: (rs999885) (human) PMID:24416400|REF_RGD_ID:15042885 11835422 MCM7 minichromosome maintenance complex component 7 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1557018 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:SNP:promoter: (rs999885) (human) PMID:24416400|REF_RGD_ID:15042885 11835422 MCM7 minichromosome maintenance complex component 7 gene DOID:7998 hyperthyroidism ISO RGD:1303018 D RGD:9068941 20200609 RGD PMID:17394799|REF_RGD_ID:2317698 11835444 ARL11 ADP ribosylation factor like GTPase 11 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1317649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11835444 ARL11 ADP ribosylation factor like GTPase 11 gene DOID:1059 intellectual disability ISO RGD:1317649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11835444 ARL11 ADP ribosylation factor like GTPase 11 gene DOID:630 genetic disease ISO RGD:1317649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835444 ARL11 ADP ribosylation factor like GTPase 11 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11835444 ARL11 ADP ribosylation factor like GTPase 11 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1317649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17079447 11835454 OVOL2 ovo like zinc finger 2 gene DOID:0110855 posterior polymorphous corneal dystrophy 1 ISO RGD:1314567 D RGD:7240710 20190315 OMIM 11835454 OVOL2 ovo like zinc finger 2 gene DOID:0110855 posterior polymorphous corneal dystrophy 1 ISO RGD:1314567 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1 PMID:16303937|PMID:23049806|PMID:25741868|PMID:26749309|PMID:28492532|PMID:4900143 11835454 OVOL2 ovo like zinc finger 2 gene DOID:5374 pilomatrixoma ISO RGD:1314567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26873447 11835454 OVOL2 ovo like zinc finger 2 gene DOID:630 genetic disease ISO RGD:1314567 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11835469 PIGR polymeric immunoglobulin receptor gene DOID:0050589 inflammatory bowel disease ISO RGD:737525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 11835469 PIGR polymeric immunoglobulin receptor gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:737525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 11835469 PIGR polymeric immunoglobulin receptor gene DOID:12849 autistic disorder ISO RGD:737525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11835469 PIGR polymeric immunoglobulin receptor gene DOID:1540 parathyroid carcinoma ISO RGD:737525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11835469 PIGR polymeric immunoglobulin receptor gene DOID:2986 IgA glomerulonephritis ISO RGD:737525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: IgA glomerulonephritis PMID:12740691|PMID:16282702 11835469 PIGR polymeric immunoglobulin receptor gene DOID:630 genetic disease ISO RGD:737525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835469 PIGR polymeric immunoglobulin receptor gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:737525 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11835469 PIGR polymeric immunoglobulin receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11835484 AHRR aryl-hydrocarbon receptor repressor gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1348641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 11835484 AHRR aryl-hydrocarbon receptor repressor gene DOID:10283 prostate cancer ISO RGD:1348641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11835484 AHRR aryl-hydrocarbon receptor repressor gene DOID:630 genetic disease ISO RGD:1348641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835484 AHRR aryl-hydrocarbon receptor repressor gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1348641 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 11835508 MRC2 mannose receptor C type 2 gene DOID:305 carcinoma ISO RGD:1320297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11835508 MRC2 mannose receptor C type 2 gene DOID:630 genetic disease ISO RGD:1320297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835508 MRC2 mannose receptor C type 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1320297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11835508 MRC2 mannose receptor C type 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1320297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11835508 MRC2 mannose receptor C type 2 gene DOID:9009194 Autosomal Dominant Intellectual Developmental Disorder 57 ISO RGD:1320297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 57 PMID:25741868 11835543 ZNF365 zinc finger protein 365 gene DOID:0080600 COVID-19 ISO RGD:1605085 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11835562 ASNS asparagine synthetase (glutamine-hydrolyzing) gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11835562 ASNS asparagine synthetase (glutamine-hydrolyzing) gene DOID:630 genetic disease ISO RGD:1343754 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:24139043|PMID:25741868|PMID:26395554|PMID:27422383|PMID:27522229|PMID:28492532|PMID:29405484|PMID:30057589|PMID:32255274|PMID:9536098 11835562 ASNS asparagine synthetase (glutamine-hydrolyzing) gene DOID:684 hepatocellular carcinoma ISO RGD:2162 D RGD:9068941 20200609 RGD protein:increased activity:serum (rat) PMID:10081|REF_RGD_ID:2316006 11835562 ASNS asparagine synthetase (glutamine-hydrolyzing) gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1343754 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 11835562 ASNS asparagine synthetase (glutamine-hydrolyzing) gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11835562 ASNS asparagine synthetase (glutamine-hydrolyzing) gene DOID:9002524 Asparagine Synthetase Deficiency ISO RGD:1343754 D RGD:7240710 20180130 OMIM 11835562 ASNS asparagine synthetase (glutamine-hydrolyzing) gene DOID:9002524 Asparagine Synthetase Deficiency ISO RGD:1343754 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ASNS DEFICIENCY | ClinVar Annotator: match by term: Asparagine synthetase deficiency PMID:16199547|PMID:24139043|PMID:25227173|PMID:25663424|PMID:25741868|PMID:25758715|PMID:26395554|PMID:27422383|PMID:27469131|PMID:27522229|PMID:27711071|PMID:28492532|PMID:28776279|PMID:29279279|PMID:29302074|PMID:29375865|PMID:29405484|PMID:30057589|PMID:30214071|PMID:30978478|PMID:31130284|PMID:32255274|PMID:32741967|PMID:32906196|PMID:33258288|PMID:33287870|PMID:34582790|PMID:34906502 11835562 ASNS asparagine synthetase (glutamine-hydrolyzing) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868|PMID:27522229|PMID:28492532 11835562 ASNS asparagine synthetase (glutamine-hydrolyzing) gene DOID:9007188 Liver Neoplasms ISO RGD:1343754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 11835562 ASNS asparagine synthetase (glutamine-hydrolyzing) gene DOID:9455 lipid storage disease ISO RGD:1343754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17175557 11835617 ZRANB3 zinc finger RANBP2-type containing 3 gene DOID:0060591 WHIM syndrome 1 ISO RGD:1349256 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:28492532 11835617 ZRANB3 zinc finger RANBP2-type containing 3 gene DOID:630 genetic disease ISO RGD:1349256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835642 NLRP2B NLR family pyrin domain containing 2B gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1605822 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:9383023 11835642 NLRP2B NLR family pyrin domain containing 2B gene DOID:12849 autistic disorder ISO RGD:1605822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11835643 WEE2 WEE2 oocyte meiosis inhibiting kinase gene DOID:0080690 RASopathy ISO RGD:1352233 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 11835643 WEE2 WEE2 oocyte meiosis inhibiting kinase gene DOID:630 genetic disease ISO RGD:1352233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835643 WEE2 WEE2 oocyte meiosis inhibiting kinase gene DOID:9009251 Oocyte Maturation Defect 5 ISO RGD:1352233 D RGD:7240710 20190315 OMIM 11835643 WEE2 WEE2 oocyte meiosis inhibiting kinase gene DOID:9009251 Oocyte Maturation Defect 5 ISO RGD:1352233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 5 PMID:29606300|PMID:30628060 11835659 FAM163A family with sequence similarity 163 member A gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1605572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 11835659 FAM163A family with sequence similarity 163 member A gene DOID:1540 parathyroid carcinoma ISO RGD:1605572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11835659 FAM163A family with sequence similarity 163 member A gene DOID:630 genetic disease ISO RGD:1605572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835659 FAM163A family with sequence similarity 163 member A gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1605572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11835659 FAM163A family with sequence similarity 163 member A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11835681 CHADL chondroadherin like gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:2292054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11835681 CHADL chondroadherin like gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:2292054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 11835681 CHADL chondroadherin like gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:2292054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 PMID:28492532 11835681 CHADL chondroadherin like gene DOID:630 genetic disease ISO RGD:2292054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835681 CHADL chondroadherin like gene DOID:9006041 Osteoarthritis, Hip ISO RGD:2292054 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:28319091|PMID:30374069 11835696 ABHD14A abhydrolase domain containing 14A gene DOID:630 genetic disease ISO RGD:1601874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835719 GTF3C6 general transcription factor IIIC subunit 6 gene DOID:630 genetic disease ISO RGD:1316627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835729 SERPINI1 serpin family I member 1 gene DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies ISO RGD:731505 D RGD:7240710 20180130 OMIM 11835729 SERPINI1 serpin family I member 1 gene DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies ISO RGD:731505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial encephalopathy with neuroserpin inclusion bodies PMID:11138927|PMID:11880376|PMID:12103288|PMID:15090543|PMID:17576681|PMID:18591508|PMID:18940798|PMID:19549782|PMID:21435071|PMID:23814041|PMID:25401298|PMID:25741868|PMID:26367528|PMID:26467025|PMID:28363799|PMID:28492532|PMID:28518168|PMID:28631894|PMID:29249370|PMID:32461654|PMID:9536098 11835729 SERPINI1 serpin family I member 1 gene DOID:0060669 cerebral cavernous malformation ISO RGD:731505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 11835729 SERPINI1 serpin family I member 1 gene DOID:0060671 cerebral cavernous malformation 3 ISO RGD:731505 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 3 11835729 SERPINI1 serpin family I member 1 gene DOID:630 genetic disease ISO RGD:731505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:28518168|PMID:32461654 11835729 SERPINI1 serpin family I member 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:731505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 11835729 SERPINI1 serpin family I member 1 gene DOID:9006534 Nervous System Malformations ISO RGD:731505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:12103288|PMID:18591508|PMID:18940798|PMID:19549782|PMID:23814041|PMID:25401298|PMID:25741868|PMID:26367528|PMID:28363799|PMID:28492532|PMID:28631894 11835745 TKTL2 transketolase like 2 gene DOID:630 genetic disease ISO RGD:1604771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835751 ZNF284 zinc finger protein 284 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1345575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 11835751 ZNF284 zinc finger protein 284 gene DOID:5419 schizophrenia ISO RGD:1345575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11835751 ZNF284 zinc finger protein 284 gene DOID:630 genetic disease ISO RGD:1345575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835765 TP53INP2 tumor protein p53 inducible nuclear protein 2 gene DOID:2843 long QT syndrome ISO RGD:1352381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11835765 TP53INP2 tumor protein p53 inducible nuclear protein 2 gene DOID:630 genetic disease ISO RGD:1352381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835784 WARS2 tryptophanyl tRNA synthetase 2, mitochondrial gene DOID:0050722 PHGDH deficiency ISO RGD:1318471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:14645240|PMID:24836451|PMID:28492532 11835784 WARS2 tryptophanyl tRNA synthetase 2, mitochondrial gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:1318471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 11835784 WARS2 tryptophanyl tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1318471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28236339|PMID:28492532|PMID:28554332|PMID:28650581|PMID:28905505|PMID:29120065|PMID:29783990|PMID:30831263|PMID:30920170|PMID:31282308|PMID:31970218|PMID:32120303|PMID:33972171|PMID:34890876|PMID:35074316|PMID:9536098 11835784 WARS2 tryptophanyl tRNA synthetase 2, mitochondrial gene DOID:9001163 Parkinsonism-Dystonia, Childhood-Onset, 3 ISO RGD:1318471 D RGD:7240710 20220223 OMIM 11835784 WARS2 tryptophanyl tRNA synthetase 2, mitochondrial gene DOID:9001163 Parkinsonism-Dystonia, Childhood-Onset, 3 ISO RGD:1318471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia 3, childhood-onset PMID:25741868|PMID:28236339|PMID:28492532|PMID:28905505|PMID:29120065|PMID:30831263|PMID:31970218|PMID:32120303|PMID:34890876 11835784 WARS2 tryptophanyl tRNA synthetase 2, mitochondrial gene DOID:9002540 Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures ISO RGD:1318471 D RGD:7240710 20190315 OMIM 11835784 WARS2 tryptophanyl tRNA synthetase 2, mitochondrial gene DOID:9002540 Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures ISO RGD:1318471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures PMID:17576681|PMID:25741868|PMID:28236339|PMID:28492532|PMID:28650581|PMID:28905505|PMID:29120065|PMID:29783990|PMID:30831263|PMID:30920170|PMID:31282308|PMID:31970218|PMID:32120303|PMID:34890876|PMID:35074316|PMID:9536098 11835794 PIGK phosphatidylinositol glycan anchor biosynthesis class K gene DOID:630 genetic disease ISO RGD:1315550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835794 PIGK phosphatidylinositol glycan anchor biosynthesis class K gene DOID:9001146 Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures ISO RGD:1315550 D RGD:7240710 20200715 OMIM 11835794 PIGK phosphatidylinositol glycan anchor biosynthesis class K gene DOID:9001146 Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures ISO RGD:1315550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures PMID:25741868|PMID:32220290|PMID:33392778 11835810 GSTCD glutathione S-transferase C-terminal domain containing gene DOID:630 genetic disease ISO RGD:1602688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835810 GSTCD glutathione S-transferase C-terminal domain containing gene DOID:9002304 Prostatic Neoplasms ISO RGD:1602688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21716162 11835830 KAT6A lysine acetyltransferase 6A gene DOID:0050888 syndromic intellectual disability ISO RGD:1312590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25728777 11835830 KAT6A lysine acetyltransferase 6A gene DOID:0050902 medulloblastoma ISO RGD:1312590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 11835830 KAT6A lysine acetyltransferase 6A gene DOID:0060041 autism spectrum disorder ISO RGD:1312590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30504930 11835830 KAT6A lysine acetyltransferase 6A gene DOID:0070062 Arboleda-Tham syndrome ISO RGD:1312590 D RGD:7240710 20180130 OMIM 11835830 KAT6A lysine acetyltransferase 6A gene DOID:0070062 Arboleda-Tham syndrome ISO RGD:1312590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | ClinVar Annotator: match by term: KAT6A syndrome PMID:17374998|PMID:23431171|PMID:25728775|PMID:25728777|PMID:25741868|PMID:26938784|PMID:27133397|PMID:28492532|PMID:30245513|PMID:31292255|PMID:32041641|PMID:33318932|PMID:34748993 11835830 KAT6A lysine acetyltransferase 6A gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1312590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11835830 KAT6A lysine acetyltransferase 6A gene DOID:0090039 torsion dystonia 6 ISO RGD:1312590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 11835830 KAT6A lysine acetyltransferase 6A gene DOID:0111959 immunodeficiency 15B ISO RGD:1312590 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 11835830 KAT6A lysine acetyltransferase 6A gene DOID:0112018 non-syndromic X-linked intellectual disability 104 ISO RGD:1312590 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 PMID:25741868|PMID:28492532 11835830 KAT6A lysine acetyltransferase 6A gene DOID:1059 intellectual disability ISO RGD:1312590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11835830 KAT6A lysine acetyltransferase 6A gene DOID:11198 DiGeorge syndrome ISO RGD:1312591 D RGD:9068941 20200609 RGD PMID:22921202|REF_RGD_ID:9590333 11835830 KAT6A lysine acetyltransferase 6A gene DOID:11198 DiGeorge syndrome ISO RGD:1312591 D RGD:9068941 20220825 MouseDO OMIM:188400 11835830 KAT6A lysine acetyltransferase 6A gene DOID:630 genetic disease ISO RGD:1312590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28135719|PMID:28492532|PMID:30245513|PMID:32041641 11835830 KAT6A lysine acetyltransferase 6A gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1304892 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:17083329|REF_RGD_ID:2312274 11835830 KAT6A lysine acetyltransferase 6A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 11835830 KAT6A lysine acetyltransferase 6A gene DOID:9002789 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE ISO RGD:1312590 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE PMID:25741868|PMID:28492532 11835830 KAT6A lysine acetyltransferase 6A gene DOID:9003879 Vein of Galen Aneurysm ISO RGD:1312590 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galen vein aneurysm PMID:30578106 11835830 KAT6A lysine acetyltransferase 6A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11835830 KAT6A lysine acetyltransferase 6A gene DOID:9008086 Developmental Disabilities ISO RGD:1312590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11835830 KAT6A lysine acetyltransferase 6A gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1312590 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:30245513|PMID:31292255 11835830 KAT6A lysine acetyltransferase 6A gene DOID:9008939 Breast Neoplasms severity ISO RGD:1312590 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:25220592|REF_RGD_ID:9590335 11835830 KAT6A lysine acetyltransferase 6A gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1312590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 11835830 KAT6A lysine acetyltransferase 6A gene DOID:9119 acute myeloid leukemia ISO RGD:1312590 D RGD:9068941 20200609 RGD human gene in a mouse model;DNA:translocation:exon PMID:12676584|REF_RGD_ID:9590334 11835859 PPP1R3D protein phosphatase 1 regulatory subunit 3D gene DOID:630 genetic disease ISO RGD:1315049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835865 TADA1 transcriptional adaptor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11835865 TADA1 transcriptional adaptor 1 gene DOID:630 genetic disease ISO RGD:1606748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835865 TADA1 transcriptional adaptor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11835883 KIN Kin17 DNA and RNA binding protein gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1315717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11835883 KIN Kin17 DNA and RNA binding protein gene DOID:630 genetic disease ISO RGD:1315717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835908 VPS25 vacuolar protein sorting 25 homolog gene DOID:0080600 COVID-19 ISO RGD:1603949 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11835908 VPS25 vacuolar protein sorting 25 homolog gene DOID:630 genetic disease ISO RGD:1603949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835918 CSTF3 cleavage stimulation factor subunit 3 gene DOID:1059 intellectual disability ISO RGD:1314208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11835918 CSTF3 cleavage stimulation factor subunit 3 gene DOID:630 genetic disease ISO RGD:1314208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835955 CD164 CD164 molecule gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:736961 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 11835955 CD164 CD164 molecule gene DOID:0110587 autosomal dominant nonsyndromic deafness 66 ISO RGD:736961 D RGD:7240710 20190315 OMIM 11835955 CD164 CD164 molecule gene DOID:0110587 autosomal dominant nonsyndromic deafness 66 ISO RGD:736961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 66 PMID:26197441 11835955 CD164 CD164 molecule gene DOID:1324 lung cancer exacerbates ISO RGD:736961 D RGD:9068941 20211126 RGD protein:increased expression:lung (human) PMID:28903328|REF_RGD_ID:11555304 11835955 CD164 CD164 molecule gene DOID:630 genetic disease ISO RGD:736961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835955 CD164 CD164 molecule gene DOID:9003281 Spontaneous Abortions ISO RGD:736961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11835970 KDM6B lysine demethylase 6B gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1316934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11835970 KDM6B lysine demethylase 6B gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1316934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11835970 KDM6B lysine demethylase 6B gene DOID:0080297 Coffin-Siris syndrome 6 ISO RGD:1316934 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 6 PMID:25741868 11835970 KDM6B lysine demethylase 6B gene DOID:1059 intellectual disability ISO RGD:1316934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11835970 KDM6B lysine demethylase 6B gene DOID:12177 common variable immunodeficiency ISO RGD:1316934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11835970 KDM6B lysine demethylase 6B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1316934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11835970 KDM6B lysine demethylase 6B gene DOID:1826 epilepsy ISO RGD:1316934 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11835970 KDM6B lysine demethylase 6B gene DOID:2729 dyskeratosis congenita ISO RGD:1316934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11835970 KDM6B lysine demethylase 6B gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1316934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 11835970 KDM6B lysine demethylase 6B gene DOID:3459 breast carcinoma ISO RGD:1316934 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:23152497|REF_RGD_ID:9587818 11835970 KDM6B lysine demethylase 6B gene DOID:4450 renal cell carcinoma ISO RGD:1316934 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (human) PMID:23057811|REF_RGD_ID:9587837 11835970 KDM6B lysine demethylase 6B gene DOID:630 genetic disease ISO RGD:1316934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11835970 KDM6B lysine demethylase 6B gene DOID:9000039 Spinal Cord Injuries ISO RGD:1307629 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord (rat) PMID:22578249|REF_RGD_ID:9587821 11835970 KDM6B lysine demethylase 6B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 11835970 KDM6B lysine demethylase 6B gene DOID:9007117 Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities ISO RGD:1316934 D RGD:7240710 20190821 OMIM 11835970 KDM6B lysine demethylase 6B gene DOID:9007117 Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities ISO RGD:1316934 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities PMID:25741868|PMID:28492532|PMID:31124279 11835970 KDM6B lysine demethylase 6B gene DOID:9008582 Developmental Disease ISO RGD:1316934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11835970 KDM6B lysine demethylase 6B gene DOID:962 neurofibroma ISO RGD:1316935 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:sciatic nerve (mouse) PMID:23748155|REF_RGD_ID:9587842 11835996 PEMT phosphatidylethanolamine N-methyltransferase gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:732310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 11835996 PEMT phosphatidylethanolamine N-methyltransferase gene DOID:0050777 Joubert syndrome ISO RGD:732310 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11835996 PEMT phosphatidylethanolamine N-methyltransferase gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:732310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 11835996 PEMT phosphatidylethanolamine N-methyltransferase gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:732310 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29416063 11835996 PEMT phosphatidylethanolamine N-methyltransferase gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:732310 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 11835996 PEMT phosphatidylethanolamine N-methyltransferase gene DOID:12849 autistic disorder ISO RGD:732310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11835996 PEMT phosphatidylethanolamine N-methyltransferase gene DOID:5082 liver cirrhosis ISO RGD:732310 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29416063 11835996 PEMT phosphatidylethanolamine N-methyltransferase gene DOID:630 genetic disease ISO RGD:732310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11835996 PEMT phosphatidylethanolamine N-methyltransferase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:3297 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:7929120|REF_RGD_ID:1642378 11835996 PEMT phosphatidylethanolamine N-methyltransferase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3297 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:17116711|REF_RGD_ID:1642370 11835996 PEMT phosphatidylethanolamine N-methyltransferase gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:3297 D RGD:9068941 20200609 RGD PMID:17156888|REF_RGD_ID:1642369 11836011 WT1 WT1 transcription factor gene DOID:0050438 Frasier syndrome ISO RGD:69122 D RGD:7240710 20180130 OMIM 11836011 WT1 WT1 transcription factor gene DOID:0050438 Frasier syndrome ISO RGD:69122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frasier syndrome PMID:10094551|PMID:10470095|PMID:10505700|PMID:10571943|PMID:10762296|PMID:11182928|PMID:11241055|PMID:11738793|PMID:12050205|PMID:12471221|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15266301|PMID:15483024|PMID:15509792|PMID:1655284|PMID:1658787|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17694336|PMID:17853480|PMID:18559874|PMID:18591546|PMID:18618575|PMID:19171881|PMID:19205749|PMID:19221039|PMID:19484379|PMID:19494353|PMID:19536888|PMID:20368469|PMID:20413658|PMID:20435628|PMID:20442690|PMID:20595692|PMID:21499692|PMID:21504297|PMID:21508141|PMID:21851196|PMID:22099579|PMID:23117548|PMID:23295293|PMID:23497137|PMID:23515051|PMID:23715653|PMID:23935527|PMID:24033266|PMID:24161391|PMID:24856380|PMID:25110071|PMID:25501161|PMID:25741868|PMID:25818337|PMID:25932436|PMID:26069768|PMID:26358501|PMID:26467025|PMID:26725263|PMID:27013732|PMID:27719739|PMID:27899157|PMID:28204945|PMID:28492532|PMID:28529006|PMID:28780565|PMID:29668062|PMID:30406062|PMID:30655312|PMID:32352694|PMID:32581362|PMID:6307071|PMID:7795587|PMID:8295405|PMID:8388765|PMID:9090524|PMID:9108089|PMID:9398852|PMID:9499425|PMID:9529364|PMID:9531607|PMID:9536098|PMID:9607189 11836011 WT1 WT1 transcription factor gene DOID:0050933 ovarian serous carcinoma ISO RGD:69122 D RGD:9068941 20200609 RGD PMID:19856421|REF_RGD_ID:2315539 11836011 WT1 WT1 transcription factor gene DOID:0060318 acute promyelocytic leukemia ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 11836011 WT1 WT1 transcription factor gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:69122 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868|PMID:28492532 11836011 WT1 WT1 transcription factor gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:69122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:10094551|PMID:10470095|PMID:10505700|PMID:10762296|PMID:11182928|PMID:12050205|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15509792|PMID:1655284|PMID:1658787|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17694336|PMID:17853480|PMID:19484379|PMID:20442690|PMID:21499692|PMID:22099579|PMID:23295293|PMID:23497137|PMID:23515051|PMID:23715653|PMID:23935527|PMID:24033266|PMID:24161391|PMID:24856380|PMID:25501161|PMID:25741868|PMID:25818337|PMID:26069768|PMID:26467025|PMID:27013732|PMID:27719739|PMID:27899157|PMID:28204945|PMID:28492532|PMID:28780565|PMID:29668062|PMID:30406062|PMID:30655312|PMID:32352694|PMID:32581362|PMID:6307071|PMID:7795587|PMID:8295405|PMID:9090524|PMID:9398852|PMID:9499425|PMID:9529364|PMID:9536098|PMID:9607189 11836011 WT1 WT1 transcription factor gene DOID:0080383 nephrotic syndrome type 4 ISO RGD:69122 D RGD:7240710 20180130 OMIM 11836011 WT1 WT1 transcription factor gene DOID:0080383 nephrotic syndrome type 4 ISO RGD:69122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 4 PMID:10094551|PMID:10470095|PMID:10505700|PMID:10603123|PMID:10762296|PMID:11182928|PMID:11278460|PMID:11322369|PMID:12050205|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15266301|PMID:15483024|PMID:15509792|PMID:1655284|PMID:1658787|PMID:16932893|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17694336|PMID:17853480|PMID:18203154|PMID:18559874|PMID:18591546|PMID:19171881|PMID:19221039|PMID:19484379|PMID:19494353|PMID:19536888|PMID:20368469|PMID:20413658|PMID:20435628|PMID:20442690|PMID:20562648|PMID:21125408|PMID:21499692|PMID:21851196|PMID:22099579|PMID:22172722|PMID:23295293|PMID:23497137|PMID:23515051|PMID:23715653|PMID:23935527|PMID:24033266|PMID:24161391|PMID:24728327|PMID:24856380|PMID:25110071|PMID:25145932|PMID:25349199|PMID:25383892|PMID:25501161|PMID:25720465|PMID:25741868|PMID:25818337|PMID:25932436|PMID:26069768|PMID:26358501|PMID:26467025|PMID:26725263|PMID:26882358|PMID:27013732|PMID:27300205|PMID:27719739|PMID:27899157|PMID:28204945|PMID:28492532|PMID:28529006|PMID:28780565|PMID:29668062|PMID:30406062|PMID:30655312|PMID:30721404|PMID:30963316|PMID:31937884|PMID:32352694|PMID:32581362|PMID:33226606|PMID:34386660|PMID:6307071|PMID:7795587|PMID:8295405|PMID:8810912|PMID:9090524|PMID:9108089|PMID:9398852|PMID:9475094|PMID:9499425|PMID:9529364|PMID:9536098|PMID:9607189 11836011 WT1 WT1 transcription factor gene DOID:0080638 B-cell acute lymphoblastic leukemia ISO RGD:69122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: B Acute Lymphoblastic Leukemia PMID:12640141|PMID:16987884|PMID:25741868|PMID:28492532|PMID:28811308|PMID:8621495 11836011 WT1 WT1 transcription factor gene DOID:0111365 benign familial hematuria ISO RGD:69122 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microscopic hematuria PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532 11836011 WT1 WT1 transcription factor gene DOID:1059 intellectual disability ISO RGD:69122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11836011 WT1 WT1 transcription factor gene DOID:10652 Alzheimer's disease ISO RGD:69122 D RGD:9068941 20200609 RGD PMID:12914969|REF_RGD_ID:1580623 11836011 WT1 WT1 transcription factor gene DOID:1184 nephrotic syndrome ISO RGD:69122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome PMID:10094551|PMID:10470095|PMID:10505700|PMID:11182928|PMID:12050205|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15509792|PMID:1655284|PMID:1658787|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17853480|PMID:19484379|PMID:20442690|PMID:23497137|PMID:23515051|PMID:23715653|PMID:23935527|PMID:24161391|PMID:25501161|PMID:25741868|PMID:25818337|PMID:26069768|PMID:26467025|PMID:27013732|PMID:27899157|PMID:28204945|PMID:28492532|PMID:29668062|PMID:30655312|PMID:32352694|PMID:32581362|PMID:6307071|PMID:7795587|PMID:8295405|PMID:9090524|PMID:9398852|PMID:9499425|PMID:9529364|PMID:9536098|PMID:9607189 11836011 WT1 WT1 transcription factor gene DOID:12271 aniridia ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11836011 WT1 WT1 transcription factor gene DOID:1240 leukemia ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14961577 11836011 WT1 WT1 transcription factor gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:69122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:10571943|PMID:11241055|PMID:11738793|PMID:12471221|PMID:15150775|PMID:15483024|PMID:18559874|PMID:18591546|PMID:18618575|PMID:19171881|PMID:19205749|PMID:19221039|PMID:19494353|PMID:19536888|PMID:20368469|PMID:20413658|PMID:20435628|PMID:20595692|PMID:21504297|PMID:21508141|PMID:21851196|PMID:23117548|PMID:23515051|PMID:25110071|PMID:25145932|PMID:25349199|PMID:25383892|PMID:25741868|PMID:25818337|PMID:25932436|PMID:26467025|PMID:26725263|PMID:28492532|PMID:30406062|PMID:33226606|PMID:34386660|PMID:7795587|PMID:8388765|PMID:9108089|PMID:9531607 11836011 WT1 WT1 transcription factor gene DOID:1324 lung cancer ISO RGD:69122 D RGD:9068941 20220901 RGD mRNA:decreased expression:lung (human) PMID:27821145|REF_RGD_ID:153344578 11836011 WT1 WT1 transcription factor gene DOID:1380 endometrial cancer disease_progression ISO RGD:69122 D RGD:9068941 20200609 RGD PMID:19443388|REF_RGD_ID:2315542 11836011 WT1 WT1 transcription factor gene DOID:14447 gonadal dysgenesis ISO RGD:69122 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Gonadal dysgenesis PMID:25741868 11836011 WT1 WT1 transcription factor gene DOID:14515 WAGR syndrome ISO RGD:69122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome PMID:10470095|PMID:10505700|PMID:11182928|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15483024|PMID:15509792|PMID:1655284|PMID:17496156|PMID:17541636|PMID:17853480|PMID:23497137|PMID:23715653|PMID:23935527|PMID:25501161|PMID:25741868|PMID:25818337|PMID:26069768|PMID:26467025|PMID:27013732|PMID:27899157|PMID:28204945|PMID:28492532|PMID:32352694|PMID:32581362|PMID:6307071|PMID:7795587|PMID:8295405|PMID:9090524|PMID:9529364|PMID:9607189 11836011 WT1 WT1 transcription factor gene DOID:1612 breast cancer disease_progression ISO RGD:69122 D RGD:9068941 20200609 RGD PMID:19407365|REF_RGD_ID:2315543 11836011 WT1 WT1 transcription factor gene DOID:1790 malignant mesothelioma ISO RGD:69122 D RGD:7240710 20180130 OMIM 11836011 WT1 WT1 transcription factor gene DOID:1790 malignant mesothelioma ISO RGD:69122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mesothelioma, malignant PMID:10470095|PMID:10505700|PMID:11182928|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15509792|PMID:1655284|PMID:17496156|PMID:17541636|PMID:17853480|PMID:23497137|PMID:23715653|PMID:23935527|PMID:25501161|PMID:25741868|PMID:25818337|PMID:26069768|PMID:26467025|PMID:27013732|PMID:27899157|PMID:28204945|PMID:28492532|PMID:32352694|PMID:32581362|PMID:6307071|PMID:7795587|PMID:8295405|PMID:9090524|PMID:9529364|PMID:9607189 11836011 WT1 WT1 transcription factor gene DOID:1793 pancreatic cancer ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19196508 11836011 WT1 WT1 transcription factor gene DOID:1923 disorder of sexual development ISO RGD:69122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation PMID:25741868|PMID:28492532 11836011 WT1 WT1 transcription factor gene DOID:2154 nephroblastoma ISO RGD:69122 D RGD:7240710 20180130 OMIM 11836011 WT1 WT1 transcription factor gene DOID:2154 nephroblastoma ISO RGD:69122 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic PMID:10094551|PMID:10470095|PMID:10505700|PMID:10571943|PMID:10603123|PMID:10762296|PMID:11182928|PMID:11241055|PMID:11278460|PMID:11322369|PMID:11738793|PMID:12050205|PMID:12471221|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15266301|PMID:15483024|PMID:15509792|PMID:1654525|PMID:1655284|PMID:1658787|PMID:16932893|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17694336|PMID:17853480|PMID:18203154|PMID:18559874|PMID:18591546|PMID:18618575|PMID:18688870|PMID:19048299|PMID:19171881|PMID:19205749|PMID:19221039|PMID:19484379|PMID:19494353|PMID:19536888|PMID:20106868|PMID:20368469|PMID:20413658|PMID:20435628|PMID:20442690|PMID:20595692|PMID:21125408|PMID:21499692|PMID:21504297|PMID:21508141|PMID:21851196|PMID:22099579|PMID:22172722|PMID:22703879|PMID:22796116|PMID:23117548|PMID:23295293|PMID:23497137|PMID:23515051|PMID:23715653|PMID:23935527|PMID:24033266|PMID:24161391|PMID:24728327|PMID:24856380|PMID:25110071|PMID:25451826|PMID:25501161|PMID:25720465|PMID:25741868|PMID:25818337|PMID:25932436|PMID:26069768|PMID:26358501|PMID:26467025|PMID:26725263|PMID:26822237|PMID:26882358|PMID:27013732|PMID:27300205|PMID:27719739|PMID:27899157|PMID:28204945|PMID:28492532|PMID:28529006|PMID:28780565|PMID:29668062|PMID:30406062|PMID:30655312|PMID:30721404|PMID:30963316|PMID:31937884|PMID:32352694|PMID:32581362|PMID:35535697|PMID:6307071|PMID:7795587|PMID:8295405|PMID:8388765|PMID:8810912|PMID:8975729|PMID:9090524|PMID:9108089|PMID:9398852|PMID:9475094|PMID:9499425|PMID:9529364|PMID:9531607|PMID:9536098|PMID:9607189 11836011 WT1 WT1 transcription factor gene DOID:2394 ovarian cancer ISO RGD:69122 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 11836011 WT1 WT1 transcription factor gene DOID:2921 glomerulonephritis ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20962747 11836011 WT1 WT1 transcription factor gene DOID:3068 glioblastoma ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20820871 11836011 WT1 WT1 transcription factor gene DOID:3192 neurilemmoma ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25474318 11836011 WT1 WT1 transcription factor gene DOID:3347 osteosarcoma ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28107196 11836011 WT1 WT1 transcription factor gene DOID:3764 Denys-Drash syndrome ISO RGD:69122 D RGD:7240710 20180130 OMIM 11836011 WT1 WT1 transcription factor gene DOID:3764 Denys-Drash syndrome ISO RGD:69122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Drash syndrome | ClinVar Annotator: match by term: Pseudohermaphroditism, nephron disorder and Wilms' tumor PMID:10094551|PMID:10470095|PMID:10505700|PMID:10571943|PMID:10603123|PMID:10762296|PMID:11182928|PMID:11241055|PMID:11278460|PMID:11322369|PMID:11738793|PMID:12024052|PMID:12050205|PMID:12471221|PMID:12640141|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:1350671|PMID:15150775|PMID:15266301|PMID:15483024|PMID:15509792|PMID:15957141|PMID:16199547|PMID:1655284|PMID:1658787|PMID:16717397|PMID:16932893|PMID:16987884|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17630404|PMID:17694336|PMID:17853480|PMID:18203154|PMID:18559874|PMID:18591546|PMID:18618575|PMID:19048299|PMID:19171881|PMID:19205749|PMID:19221039|PMID:19484379|PMID:19494353|PMID:19536888|PMID:20106868|PMID:20368469|PMID:20413658|PMID:20435628|PMID:20442690|PMID:20562648|PMID:20595692|PMID:21125408|PMID:21384108|PMID:21499692|PMID:21504297|PMID:21508141|PMID:21851196|PMID:22099579|PMID:22172722|PMID:22465478|PMID:22703879|PMID:22876585|PMID:23117548|PMID:23295293|PMID:23497137|PMID:23515051|PMID:23715653|PMID:23935527|PMID:24033266|PMID:24138039|PMID:24161391|PMID:24379226|PMID:24402088|PMID:24728327|PMID:24856380|PMID:25110071|PMID:25145932|PMID:25349199|PMID:25383892|PMID:25451826|PMID:25501161|PMID:25720465|PMID:25741868|PMID:25818337|PMID:25932436|PMID:26069768|PMID:26358501|PMID:26467025|PMID:26661695|PMID:26725263|PMID:26882358|PMID:27013732|PMID:27124303|PMID:27241786|PMID:27300205|PMID:27719739|PMID:27899157|PMID:28204945|PMID:28334862|PMID:28492532|PMID:28529006|PMID:28658201|PMID:28780565|PMID:28811308|PMID:29668062|PMID:30221469|PMID:30406062|PMID:30655312|PMID:30668521|PMID:30721404|PMID:30963316|PMID:31937884|PMID:32352694|PMID:32493750|PMID:32581362|PMID:32604935|PMID:33226606|PMID:34386660|PMID:35535697|PMID:5665984|PMID:6307071|PMID:7795587|PMID:8295405|PMID:8388765|PMID:8411073|PMID:8621495|PMID:8810912|PMID:8956030|PMID:8975729|PMID:9090524|PMID:9108089|PMID:9398852|PMID:9475094|PMID:9499425|PMID:9529364|PMID:9531607|PMID:9536098|PMID:9607189|PMID:9817285 11836011 WT1 WT1 transcription factor gene DOID:3827 congenital diaphragmatic hernia ISO RGD:11493 D RGD:9068941 20220825 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 11836011 WT1 WT1 transcription factor gene DOID:3827 congenital diaphragmatic hernia ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21072664 11836011 WT1 WT1 transcription factor gene DOID:5176 renal Wilms' tumor ISO RGD:69122 D RGD:9068941 20221103 RGD human tumor in mouse model PMID:18467665|REF_RGD_ID:155631277 11836011 WT1 WT1 transcription factor gene DOID:5426 primary ovarian insufficiency ISO RGD:69122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11836011 WT1 WT1 transcription factor gene DOID:557 kidney disease ISO RGD:69122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:10470095|PMID:10505700|PMID:11182928|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15483024|PMID:15509792|PMID:1655284|PMID:17496156|PMID:17541636|PMID:17853480|PMID:23497137|PMID:23715653|PMID:23935527|PMID:25501161|PMID:25741868|PMID:25818337|PMID:26069768|PMID:26467025|PMID:27013732|PMID:27899157|PMID:28204945|PMID:28492532|PMID:32352694|PMID:32581362|PMID:6307071|PMID:7795587|PMID:8295405|PMID:9090524|PMID:9529364|PMID:9607189 11836011 WT1 WT1 transcription factor gene DOID:576 proteinuria ISO RGD:69122 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:25741868|PMID:28492532 11836011 WT1 WT1 transcription factor gene DOID:630 genetic disease ISO RGD:69122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15150775|PMID:19048299|PMID:25741868|PMID:28492532|PMID:9108089 11836011 WT1 WT1 transcription factor gene DOID:784 chronic kidney disease ISO RGD:69122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868 11836011 WT1 WT1 transcription factor gene DOID:784 chronic kidney disease treatment ISO RGD:69122 D RGD:9068941 20221103 RGD human cells in rat model PMID:33298161|REF_RGD_ID:155631310 11836011 WT1 WT1 transcription factor gene DOID:8552 chronic myeloid leukemia ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17157168 11836011 WT1 WT1 transcription factor gene DOID:9001834 Peritoneal Neoplasms ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 11836011 WT1 WT1 transcription factor gene DOID:9002455 Aniridia 1 ISO RGD:69122 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aniridia 1 PMID:10470095|PMID:10505700|PMID:10571943|PMID:10762296|PMID:11182928|PMID:11241055|PMID:11278460|PMID:11322369|PMID:11738793|PMID:12471221|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15483024|PMID:15509792|PMID:1655284|PMID:1658787|PMID:16932893|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17630404|PMID:17694336|PMID:17853480|PMID:18203154|PMID:18618575|PMID:19205749|PMID:19221039|PMID:20106868|PMID:20442690|PMID:20595692|PMID:21125408|PMID:21499692|PMID:21504297|PMID:21508141|PMID:21851196|PMID:22099579|PMID:22172722|PMID:23117548|PMID:23295293|PMID:23497137|PMID:23515051|PMID:23715653|PMID:23935527|PMID:24033266|PMID:24138039|PMID:24728327|PMID:24856380|PMID:25145932|PMID:25349199|PMID:25383892|PMID:25501161|PMID:25720465|PMID:25741868|PMID:25818337|PMID:26069768|PMID:26467025|PMID:26661695|PMID:26882358|PMID:27013732|PMID:27124303|PMID:27300205|PMID:27719739|PMID:27899157|PMID:28204945|PMID:28334862|PMID:28492532|PMID:28780565|PMID:30406062|PMID:30721404|PMID:30963316|PMID:31937884|PMID:32352694|PMID:32581362|PMID:33226606|PMID:34386660|PMID:6307071|PMID:7795587|PMID:8295405|PMID:8388765|PMID:8810912|PMID:8975729|PMID:9090524|PMID:9108089|PMID:9398852|PMID:9475094|PMID:9499425|PMID:9529364|PMID:9531607|PMID:9536098|PMID:9607189 11836011 WT1 WT1 transcription factor gene DOID:9002928 Colonic Neoplasms ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14961577 11836011 WT1 WT1 transcription factor gene DOID:9003125 Male Genital Neoplasms ISO RGD:69122 D RGD:9068941 20200609 RGD PMID:19543245|REF_RGD_ID:2315541 11836011 WT1 WT1 transcription factor gene DOID:9003566 Mesothelioma ISO RGD:69122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mesothelioma PMID:4332312|PMID:8298644 11836011 WT1 WT1 transcription factor gene DOID:9003775 Chromosome 11p Deletion Syndrome ISO RGD:69122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 11p deletion syndrome PMID:10470095|PMID:10505700|PMID:11182928|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15483024|PMID:15509792|PMID:1655284|PMID:17496156|PMID:17541636|PMID:17853480|PMID:23497137|PMID:23715653|PMID:23935527|PMID:25501161|PMID:25741868|PMID:25818337|PMID:26069768|PMID:26467025|PMID:27013732|PMID:27899157|PMID:28204945|PMID:28492532|PMID:32352694|PMID:32581362|PMID:6307071|PMID:7795587|PMID:8295405|PMID:9090524|PMID:9529364|PMID:9607189 11836011 WT1 WT1 transcription factor gene DOID:9005172 Lung Neoplasms ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14961577 11836011 WT1 WT1 transcription factor gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:11493 D RGD:9068941 20221103 RGD mRNA:altered expression:kidney (mouse) PMID:18467665|REF_RGD_ID:155631277 11836011 WT1 WT1 transcription factor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69122 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:22703879|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532 11836011 WT1 WT1 transcription factor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:22703879|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532 11836011 WT1 WT1 transcription factor gene DOID:9007195 Meacham Winn Culler Syndrome ISO RGD:69122 D RGD:7240710 20180130 OMIM 11836011 WT1 WT1 transcription factor gene DOID:9007195 Meacham Winn Culler Syndrome ISO RGD:69122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meacham Winn Culler syndrome | ClinVar Annotator: match by term: Meacham syndrome PMID:10470095|PMID:10505700|PMID:10603123|PMID:11182928|PMID:12970737|PMID:1302008|PMID:1317572|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15266301|PMID:15483024|PMID:15509792|PMID:1655284|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17853480|PMID:18559874|PMID:18591546|PMID:19171881|PMID:19221039|PMID:19494353|PMID:19536888|PMID:20368469|PMID:20413658|PMID:20435628|PMID:22099579|PMID:22172722|PMID:23325811|PMID:23497137|PMID:23562652|PMID:23715653|PMID:23935527|PMID:24033266|PMID:24728327|PMID:25110071|PMID:25501161|PMID:25741868|PMID:25818337|PMID:25932436|PMID:26069768|PMID:26358501|PMID:26467025|PMID:26725263|PMID:27013732|PMID:27300205|PMID:27899157|PMID:28204945|PMID:28492532|PMID:28529006|PMID:29474669|PMID:30963316|PMID:31937884|PMID:32352694|PMID:32581362|PMID:6307071|PMID:7795587|PMID:8295405|PMID:8810912|PMID:9090524|PMID:9529364|PMID:9536098|PMID:9607189|PMID:9916932 11836011 WT1 WT1 transcription factor gene DOID:9008897 Diffuse Mesangial Sclerosis ISO RGD:69122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, early onset with diffuse mesangial sclerosis PMID:10470095|PMID:10505700|PMID:11182928|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15483024|PMID:15509792|PMID:1655284|PMID:17496156|PMID:17541636|PMID:17853480|PMID:23497137|PMID:23715653|PMID:23935527|PMID:25501161|PMID:25741868|PMID:25818337|PMID:26069768|PMID:26467025|PMID:27013732|PMID:27899157|PMID:28204945|PMID:28492532|PMID:32352694|PMID:32581362|PMID:6307071|PMID:7795587|PMID:8295405|PMID:9090524|PMID:9529364|PMID:9607189 11836011 WT1 WT1 transcription factor gene DOID:9008939 Breast Neoplasms ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14961577 11836011 WT1 WT1 transcription factor gene DOID:9009073 Diaphragmatic Hernia ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17436238 11836011 WT1 WT1 transcription factor gene DOID:9119 acute myeloid leukemia ISO RGD:69122 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:24374862|PMID:24422723|PMID:24521058|PMID:24659740|PMID:24667279|PMID:24671364|PMID:25145932|PMID:25741868 11836039 GPN3 GPN-loop GTPase 3 gene DOID:630 genetic disease ISO RGD:1606002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11836060 LOC100977210 galectin-9 gene DOID:0060041 autism spectrum disorder ISO RGD:736794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25255310 11836060 LOC100977210 galectin-9 gene DOID:10952 nephritis ISO RGD:736794 D RGD:9068941 20200611 CTD CTD Direct Evidence: therapeutic PMID:11044214 11836060 LOC100977210 galectin-9 gene DOID:630 genetic disease ISO RGD:736794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11836060 LOC100977210 galectin-9 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:3005 D RGD:9068941 20200611 RGD PMID:17706429|REF_RGD_ID:9685206 11836083 SGPP1 sphingosine-1-phosphate phosphatase 1 gene DOID:630 genetic disease ISO RGD:1343984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11836099 ITK IL2 inducible T cell kinase gene DOID:0060704 lymphoproliferative syndrome ISO RGD:1323169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoproliferative disorder 11836099 ITK IL2 inducible T cell kinase gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1323169 D RGD:7240710 20180130 OMIM 11836099 ITK IL2 inducible T cell kinase gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1323169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:17412921|PMID:17576681|PMID:19425169|PMID:19535334|PMID:19701889|PMID:19717557|PMID:2018|PMID:21109689|PMID:22289921|PMID:25339095|PMID:25741868|PMID:26056787|PMID:27454071|PMID:28492532|PMID:31388699|PMID:32150605|PMID:32628964|PMID:32888943|PMID:8985255|PMID:9536098 11836099 ITK IL2 inducible T cell kinase gene DOID:12306 vitiligo ISO RGD:1323169 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Vitiligo-associated multiple autoimmune disease susceptibility 1 PMID:28492532|PMID:32628964|PMID:32888943 11836099 ITK IL2 inducible T cell kinase gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1323169 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:17576681|PMID:22289921|PMID:25741868|PMID:28492532|PMID:9536098 11836099 ITK IL2 inducible T cell kinase gene DOID:630 genetic disease ISO RGD:1323169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11836123 ANKRD40 ankyrin repeat domain 40 gene DOID:630 genetic disease ISO RGD:1602991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11836131 RANBP3 RAN binding protein 3 gene DOID:630 genetic disease ISO RGD:1313698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11836157 SLC39A3 solute carrier family 39 member 3 gene DOID:630 genetic disease ISO RGD:1322010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11836157 SLC39A3 solute carrier family 39 member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11836164 ZNF217 zinc finger protein 217 gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1318226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29581250 11836164 ZNF217 zinc finger protein 217 gene DOID:13938 amenorrhea ISO RGD:1318226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11836164 ZNF217 zinc finger protein 217 gene DOID:630 genetic disease ISO RGD:1318226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11836186 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1601882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11836186 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1601882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 11836186 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:1601882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 PMID:28492532 11836186 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:630 genetic disease ISO RGD:1601882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11836213 METTL17 methyltransferase like 17 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1601980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 11836213 METTL17 methyltransferase like 17 gene DOID:630 genetic disease ISO RGD:1601980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11836213 METTL17 methyltransferase like 17 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1601980 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11836231 CBX3 chromobox 3 gene DOID:10283 prostate cancer ISO RGD:1352044 D RGD:9068941 20200609 RGD protein:increased expression:prostate: PMID:18436254|REF_RGD_ID:9586744 11836231 CBX3 chromobox 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11836231 CBX3 chromobox 3 gene DOID:630 genetic disease ISO RGD:1352044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11836231 CBX3 chromobox 3 gene DOID:9007479 Habitual Abortions ISO RGD:1352044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent spontaneous abortion 11836250 ENTPD6 ectonucleoside triphosphate diphosphohydrolase 6 gene DOID:4440 seminoma ISO RGD:1345865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21519793 11836250 ENTPD6 ectonucleoside triphosphate diphosphohydrolase 6 gene DOID:630 genetic disease ISO RGD:1345865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11836250 ENTPD6 ectonucleoside triphosphate diphosphohydrolase 6 gene DOID:9970 obesity ISO RGD:1345865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 11836287 ZNF75D zinc finger protein 75D gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11836287 ZNF75D zinc finger protein 75D gene DOID:12849 autistic disorder ISO RGD:1345365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11836287 ZNF75D zinc finger protein 75D gene DOID:630 genetic disease ISO RGD:1345365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11836305 LOC100987021 synaptotagmin-15 gene DOID:5419 schizophrenia ISO RGD:736926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11836314 ALAS1 5'-aminolevulinate synthase 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:68572 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 11836314 ALAS1 5'-aminolevulinate synthase 1 gene DOID:13268 porphyria ISO RGD:68392 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:7547054|REF_RGD_ID:4145274 11836314 ALAS1 5'-aminolevulinate synthase 1 gene DOID:13268 porphyria ISO RGD:68572 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9222176 11836314 ALAS1 5'-aminolevulinate synthase 1 gene DOID:630 genetic disease ISO RGD:68572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11836314 ALAS1 5'-aminolevulinate synthase 1 gene DOID:6432 pulmonary hypertension ISO RGD:68392 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:16181105|REF_RGD_ID:4144185 11836314 ALAS1 5'-aminolevulinate synthase 1 gene DOID:9000884 Rhabdomyolysis ISO RGD:68392 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:16846079|REF_RGD_ID:4144834 11836314 ALAS1 5'-aminolevulinate synthase 1 gene DOID:9004484 Sepsis ISO RGD:68392 D RGD:9068941 20200609 RGD mRNA:increased expression:duodenum, jejunum, ileum (rat) PMID:12627002|REF_RGD_ID:4144178 11836314 ALAS1 5'-aminolevulinate synthase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:68392 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:6688350|REF_RGD_ID:4144808 11836342 LOC100988476 olfactory receptor 56A3 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1351120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11836342 LOC100988476 olfactory receptor 56A3 gene DOID:630 genetic disease ISO RGD:1351120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11836345 GPR22 G protein-coupled receptor 22 gene DOID:0070261 congenital disorder of glycosylation type IIi ISO RGD:1321987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COG5-CDG PMID:23228021|PMID:28492532 11836345 GPR22 G protein-coupled receptor 22 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11836345 GPR22 G protein-coupled receptor 22 gene DOID:630 genetic disease ISO RGD:1321987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11836366 KREMEN1 kringle containing transmembrane protein 1 gene DOID:0111252 neurofibromatosis 2 ISO RGD:733267 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 11836366 KREMEN1 kringle containing transmembrane protein 1 gene DOID:0111650 ectodermal dysplasia 13 ISO RGD:733267 D RGD:7240710 20190315 OMIM 11836366 KREMEN1 kringle containing transmembrane protein 1 gene DOID:0111650 ectodermal dysplasia 13 ISO RGD:733267 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 13, hair/tooth type PMID:25741868|PMID:27049303|PMID:28492532 11836366 KREMEN1 kringle containing transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:733267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11836366 KREMEN1 kringle containing transmembrane protein 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:733267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 11836379 STMN4 stathmin 4 gene DOID:630 genetic disease ISO RGD:733859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11836480 LOC100977655 CEA cell adhesion molecule 4 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1347882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11836480 LOC100977655 CEA cell adhesion molecule 4 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1347882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11836480 LOC100977655 CEA cell adhesion molecule 4 gene DOID:2340 craniosynostosis ISO RGD:1347882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11836480 LOC100977655 CEA cell adhesion molecule 4 gene DOID:5419 schizophrenia ISO RGD:1347882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11836480 LOC100977655 CEA cell adhesion molecule 4 gene DOID:630 genetic disease ISO RGD:1347882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11836480 LOC100977655 CEA cell adhesion molecule 4 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1347882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11836480 LOC100977655 CEA cell adhesion molecule 4 gene DOID:9269 maple syrup urine disease ISO RGD:1347882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11836499 ACTN2 actinin alpha 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1317671 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:25224718|PMID:25741868|PMID:28492532|PMID:31956495 11836499 ACTN2 actinin alpha 2 gene DOID:0050700 cardiomyopathy ISO RGD:1317671 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:14567970|PMID:17097056|PMID:17576681|PMID:20022194|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26084686|PMID:26498160|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27896284|PMID:28301460|PMID:28492532|PMID:28771489|PMID:28798025|PMID:28878402|PMID:28986455|PMID:29247119|PMID:30086531|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31506931|PMID:31983221|PMID:32527005|PMID:32880476|PMID:9536098 11836499 ACTN2 actinin alpha 2 gene DOID:0060036 intrinsic cardiomyopathy ISO RGD:1317671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intrinsic cardiomyopathy PMID:20474083|PMID:25741868|PMID:31333075|PMID:32973354 11836499 ACTN2 actinin alpha 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1317671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:28492532 11836499 ACTN2 actinin alpha 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 11836499 ACTN2 actinin alpha 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1317671 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32746448|PMID:32931854|PMID:34935411|PMID:35656879|PMID:9536098 11836499 ACTN2 actinin alpha 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:14567970|PMID:17097056|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27896284|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28790153|PMID:28798025|PMID:29247119|PMID:30615648|PMID:30775854|PMID:31110529|PMID:31333075|PMID:31568572 11836499 ACTN2 actinin alpha 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317671 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:14567970|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27707468|PMID:27896284|PMID:28074886|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:9536098 11836499 ACTN2 actinin alpha 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:28074886|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32931854|PMID:35656879|PMID:9536098 11836499 ACTN2 actinin alpha 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317671 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27854218|PMID:27896284|PMID:28074886|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32931854|PMID:35656879|PMID:9536098 11836499 ACTN2 actinin alpha 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317671 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32746448|PMID:32931854|PMID:34935411|PMID:35656879|PMID:9536098 11836499 ACTN2 actinin alpha 2 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1317671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868 11836499 ACTN2 actinin alpha 2 gene DOID:0110428 dilated cardiomyopathy 1AA ISO RGD:1317671 D RGD:7240710 20180130 OMIM 11836499 ACTN2 actinin alpha 2 gene DOID:0110428 dilated cardiomyopathy 1AA ISO RGD:1317671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION | ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction | ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24274751|PMID:24503780|PMID:25173926|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26084686|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27114410|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28123168|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28878402|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29447731|PMID:29875424|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31680489|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32746448|PMID:32880476|PMID:32931854|PMID:33500567|PMID:34540771|PMID:34802252|PMID:35656879|PMID:9536098 11836499 ACTN2 actinin alpha 2 gene DOID:0110428 dilated cardiomyopathy 1AA ISO RGD:1317671 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION | ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction | ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24274751|PMID:24503780|PMID:25173926|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25640679|PMID:25741868|PMID:26084686|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27114410|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28123168|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28878402|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29447731|PMID:29875424|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31680489|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32746448|PMID:32880476|PMID:32931854|PMID:33500567|PMID:34540771|PMID:34802252|PMID:34935411|PMID:35656879|PMID:9536098 11836499 ACTN2 actinin alpha 2 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1317671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:28492532 11836499 ACTN2 actinin alpha 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17097056|PMID:20022194|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:25224718|PMID:25741868|PMID:26084686|PMID:26498160|PMID:26899768|PMID:27287556|PMID:27532257|PMID:28492532|PMID:30959811|PMID:31513939|PMID:32880476|PMID:32931854|PMID:35656879 11836499 ACTN2 actinin alpha 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:14567970|PMID:17097056|PMID:20022194|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25224718|PMID:25741868|PMID:26899768|PMID:27287556|PMID:27896284|PMID:28492532|PMID:32931854|PMID:35656879 11836499 ACTN2 actinin alpha 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1317671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11836499 ACTN2 actinin alpha 2 gene DOID:2843 long QT syndrome ISO RGD:1317671 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:27532257|PMID:28492532|PMID:29247119 11836499 ACTN2 actinin alpha 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1317671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 11836499 ACTN2 actinin alpha 2 gene DOID:6000 congestive heart failure ISO RGD:1317671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:25741868|PMID:28492532 11836499 ACTN2 actinin alpha 2 gene DOID:630 genetic disease ISO RGD:1317671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17097056|PMID:20022194|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:25741868|PMID:26084686|PMID:28492532|PMID:32880476 11836499 ACTN2 actinin alpha 2 gene DOID:6419 tetralogy of Fallot ISO RGD:1317671 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:20022194|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532|PMID:28771489|PMID:32527005 11836499 ACTN2 actinin alpha 2 gene DOID:893 Wilson disease ISO RGD:1317671 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:24082139|PMID:25326637|PMID:25741868|PMID:28492532 11836499 ACTN2 actinin alpha 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1317671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation 11836499 ACTN2 actinin alpha 2 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1317671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|PMID:29447731|PMID:31110529|PMID:31333075|PMID:31568572|PMID:31737537|PMID:33500567|PMID:34540771 11836499 ACTN2 actinin alpha 2 gene DOID:9000727 Syncope ISO RGD:1317671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syncope PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:26899768|PMID:28492532|PMID:30959811 11836499 ACTN2 actinin alpha 2 gene DOID:9004033 Distal Myopathy 6 ISO RGD:1317671 D RGD:7240710 20191127 OMIM 11836499 ACTN2 actinin alpha 2 gene DOID:9004033 Distal Myopathy 6 ISO RGD:1317671 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant PMID:14567970|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27896284|PMID:27930701|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29247119|PMID:29386531|PMID:30847666|PMID:30900782|PMID:31110529|PMID:31333075|PMID:31568572|PMID:31737537|PMID:32527005|PMID:32746448|PMID:34935411|PMID:9536098 11836499 ACTN2 actinin alpha 2 gene DOID:9004417 Congenital Myopathy 8 ISO RGD:1317671 D RGD:7240710 20200115 OMIM 11836499 ACTN2 actinin alpha 2 gene DOID:9004417 Congenital Myopathy 8 ISO RGD:1317671 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 8 | ClinVar Annotator: match by term: MULTIPLE STRUCTURED CORE DISEASE | ClinVar Annotator: match by term: Myopathy, congenital, with structured cores and z-line abnormalities PMID:14567970|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26688388|PMID:26899768|PMID:27896284|PMID:27930701|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29247119|PMID:29386531|PMID:30701273|PMID:30847666|PMID:31110529|PMID:31333075|PMID:31568572|PMID:31737537|PMID:32527005|PMID:32746448|PMID:34935411|PMID:9536098 11836499 ACTN2 actinin alpha 2 gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:1317671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:25741868|PMID:28492532 11836499 ACTN2 actinin alpha 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11836530 ZCWPW1 zinc finger CW-type and PWWP domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11836530 ZCWPW1 zinc finger CW-type and PWWP domain containing 1 gene DOID:630 genetic disease ISO RGD:1313418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11836572 CHRM2 cholinergic receptor muscarinic 2 gene DOID:0050700 cardiomyopathy ISO RGD:733234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:18451336 11836572 CHRM2 cholinergic receptor muscarinic 2 gene DOID:12140 Chagas disease ISO RGD:733234 D RGD:9068941 20200609 RGD PMID:9148906|REF_RGD_ID:5509585 11836572 CHRM2 cholinergic receptor muscarinic 2 gene DOID:12143 neurogenic bladder ISO RGD:733234 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20624991 11836572 CHRM2 cholinergic receptor muscarinic 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:733234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23408450|PMID:24033266|PMID:28166811|PMID:28492532 11836572 CHRM2 cholinergic receptor muscarinic 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:733234 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:23408450|PMID:24033266|PMID:28492532 11836572 CHRM2 cholinergic receptor muscarinic 2 gene DOID:1470 major depressive disorder ISO RGD:733234 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:1890A>T (human) PMID:12116189|REF_RGD_ID:1358507 11836572 CHRM2 cholinergic receptor muscarinic 2 gene DOID:1470 major depressive disorder ISO RGD:733234 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex PMID:19103464|REF_RGD_ID:5509584 11836572 CHRM2 cholinergic receptor muscarinic 2 gene DOID:1508 candidiasis ISO RGD:1552578 D RGD:9068941 20200609 RGD PMID:19958780|REF_RGD_ID:5509581 11836572 CHRM2 cholinergic receptor muscarinic 2 gene DOID:1596 depressive disorder ISO RGD:620023 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:20830301|REF_RGD_ID:5509587 11836572 CHRM2 cholinergic receptor muscarinic 2 gene DOID:1826 epilepsy ISO RGD:733234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18333967 11836572 CHRM2 cholinergic receptor muscarinic 2 gene DOID:2841 asthma ISO RGD:733234 D RGD:9068941 20200609 RGD DNA:SNP: :rs6962027 (human) PMID:19308904|REF_RGD_ID:5509586 11836572 CHRM2 cholinergic receptor muscarinic 2 gene DOID:303 substance-related disorder ISO RGD:733234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20393457 11836572 CHRM2 cholinergic receptor muscarinic 2 gene DOID:3312 bipolar disorder ISO RGD:733234 D RGD:9068941 20200609 RGD DNA:SNP: :rs324650 (human) PMID:20351719|REF_RGD_ID:5509579 11836572 CHRM2 cholinergic receptor muscarinic 2 gene DOID:3312 bipolar disorder ISO RGD:733234 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex PMID:19103464|REF_RGD_ID:5509584 11836572 CHRM2 cholinergic receptor muscarinic 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11836572 CHRM2 cholinergic receptor muscarinic 2 gene DOID:5419 schizophrenia ISO RGD:733234 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs324651) (human) PMID:20691427|REF_RGD_ID:5509574 11836572 CHRM2 cholinergic receptor muscarinic 2 gene DOID:630 genetic disease ISO RGD:733234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11836572 CHRM2 cholinergic receptor muscarinic 2 gene DOID:9000998 Brain Injuries ISO RGD:733234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 11836572 CHRM2 cholinergic receptor muscarinic 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18603373 11836572 CHRM2 cholinergic receptor muscarinic 2 gene DOID:9007001 Bradycardia ISO RGD:733234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181912 11836572 CHRM2 cholinergic receptor muscarinic 2 gene DOID:9743 diabetic neuropathy ISO RGD:733234 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20624991 11836572 CHRM2 cholinergic receptor muscarinic 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:733234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18603373 11836572 CHRM2 cholinergic receptor muscarinic 2 gene DOID:9976 heroin dependence ISO RGD:733234 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs2350780 (human) PMID:19500151|REF_RGD_ID:5509583 11836590 ARHGDIG Rho GDP dissociation inhibitor gamma gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1321818 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11836590 ARHGDIG Rho GDP dissociation inhibitor gamma gene DOID:1826 epilepsy ISO RGD:1321818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 11836590 ARHGDIG Rho GDP dissociation inhibitor gamma gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1321818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11836590 ARHGDIG Rho GDP dissociation inhibitor gamma gene DOID:630 genetic disease ISO RGD:1321818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11836636 WIPI1 WD repeat domain, phosphoinositide interacting 1 gene DOID:0080074 neural tube defect ISO RGD:1605986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect 11836636 WIPI1 WD repeat domain, phosphoinositide interacting 1 gene DOID:13580 cholestasis ISO RGD:1605986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 11836636 WIPI1 WD repeat domain, phosphoinositide interacting 1 gene DOID:630 genetic disease ISO RGD:1605986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11836636 WIPI1 WD repeat domain, phosphoinositide interacting 1 gene DOID:9455 lipid storage disease ISO RGD:1605986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414|PMID:17175557 11836654 IGSF9 immunoglobulin superfamily member 9 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1312078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11836654 IGSF9 immunoglobulin superfamily member 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1312078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11836654 IGSF9 immunoglobulin superfamily member 9 gene DOID:630 genetic disease ISO RGD:1312078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11836654 IGSF9 immunoglobulin superfamily member 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11836686 TMPRSS9 transmembrane serine protease 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1617167 D RGD:9068941 20220825 MouseDO 11836686 TMPRSS9 transmembrane serine protease 9 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1319995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 11836686 TMPRSS9 transmembrane serine protease 9 gene DOID:630 genetic disease ISO RGD:1319995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11836686 TMPRSS9 transmembrane serine protease 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11836686 TMPRSS9 transmembrane serine protease 9 gene DOID:9008086 Developmental Disabilities ISO RGD:1319995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11836704 DYNC1I2 dynein cytoplasmic 1 intermediate chain 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:732025 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11836704 DYNC1I2 dynein cytoplasmic 1 intermediate chain 2 gene DOID:630 genetic disease ISO RGD:732025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11836704 DYNC1I2 dynein cytoplasmic 1 intermediate chain 2 gene DOID:9005194 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES ISO RGD:732025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies PMID:25741868|PMID:31079899 11836704 DYNC1I2 dynein cytoplasmic 1 intermediate chain 2 gene DOID:9006351 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES ISO RGD:732025 D RGD:7240710 20190918 OMIM 11836704 DYNC1I2 dynein cytoplasmic 1 intermediate chain 2 gene DOID:9006351 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES ISO RGD:732025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and structural brain anomalies PMID:25741868|PMID:31079899 11836752 BABAM2 BRISC and BRCA1 A complex member 2 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1343026 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11836752 BABAM2 BRISC and BRCA1 A complex member 2 gene DOID:10283 prostate cancer ISO RGD:1343026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11836752 BABAM2 BRISC and BRCA1 A complex member 2 gene DOID:630 genetic disease ISO RGD:1343026 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11836786 MXRA7 matrix remodeling associated 7 gene DOID:630 genetic disease ISO RGD:1348883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11836795 SLC7A4 solute carrier family 7 member 4 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1314214 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 11836795 SLC7A4 solute carrier family 7 member 4 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1314214 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 11836795 SLC7A4 solute carrier family 7 member 4 gene DOID:1059 intellectual disability ISO RGD:1314214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11836795 SLC7A4 solute carrier family 7 member 4 gene DOID:11198 DiGeorge syndrome ISO RGD:1314214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:31690835|PMID:32581362 11836795 SLC7A4 solute carrier family 7 member 4 gene DOID:11372 megacolon ISO RGD:1314214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11836795 SLC7A4 solute carrier family 7 member 4 gene DOID:12583 velocardiofacial syndrome ISO RGD:1314214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 11836795 SLC7A4 solute carrier family 7 member 4 gene DOID:12849 autistic disorder ISO RGD:1314214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11836795 SLC7A4 solute carrier family 7 member 4 gene DOID:1826 epilepsy ISO RGD:1314214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11836795 SLC7A4 solute carrier family 7 member 4 gene DOID:5419 schizophrenia ISO RGD:1314214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11836795 SLC7A4 solute carrier family 7 member 4 gene DOID:612 primary immunodeficiency disease ISO RGD:1314214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11836795 SLC7A4 solute carrier family 7 member 4 gene DOID:630 genetic disease ISO RGD:1314214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11836795 SLC7A4 solute carrier family 7 member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11836795 SLC7A4 solute carrier family 7 member 4 gene DOID:9007661 Dwarfism ISO RGD:1314214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11836803 BIN2 bridging integrator 2 gene DOID:630 genetic disease ISO RGD:1315604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11836819 NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase gene DOID:0070008 Seckel syndrome 10 ISO RGD:1606915 D RGD:7240710 20190315 OMIM 11836819 NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase gene DOID:0070008 Seckel syndrome 10 ISO RGD:1606915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seckel syndrome 10 PMID:25105364|PMID:25741868|PMID:26443207|PMID:28492532 11836819 NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase gene DOID:0110823 hereditary spastic paraplegia 8 ISO RGD:1606915 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 PMID:28492532 11836819 NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1606915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11836819 NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase gene DOID:2717 Bloom syndrome ISO RGD:1331905 D RGD:9068941 20220825 MouseDO OMIM:210900 11836819 NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase gene DOID:630 genetic disease ISO RGD:1606915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11836819 NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase gene DOID:9008086 Developmental Disabilities ISO RGD:1606915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11836846 HOXA10 homeobox A10 gene DOID:299 adenocarcinoma ISO RGD:1320375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21670700 11836846 HOXA10 homeobox A10 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320375 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11836846 HOXA10 homeobox A10 gene DOID:630 genetic disease ISO RGD:1320375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11836846 HOXA10 homeobox A10 gene DOID:684 hepatocellular carcinoma ISO RGD:1320375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11836846 HOXA10 homeobox A10 gene DOID:9002739 Female Urogenital Diseases ISO RGD:1320375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 11836846 HOXA10 homeobox A10 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1320375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21670700 11836859 SCG2 secretogranin II gene DOID:630 genetic disease ISO RGD:734327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11836859 SCG2 secretogranin II gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11836876 CCDC24 coiled-coil domain containing 24 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:23252400|PMID:28492532 11836876 CCDC24 coiled-coil domain containing 24 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11836876 CCDC24 coiled-coil domain containing 24 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:23252400|PMID:28492532 11836876 CCDC24 coiled-coil domain containing 24 gene DOID:630 genetic disease ISO RGD:1603566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11836914 CAMK1G calcium/calmodulin dependent protein kinase IG gene DOID:1540 parathyroid carcinoma ISO RGD:732495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11836914 CAMK1G calcium/calmodulin dependent protein kinase IG gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23624525 11836914 CAMK1G calcium/calmodulin dependent protein kinase IG gene DOID:630 genetic disease ISO RGD:732495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11836914 CAMK1G calcium/calmodulin dependent protein kinase IG gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11836937 GHR growth hormone receptor gene DOID:0050328 congenital hypothyroidism treatment ISO RGD:2687 D RGD:9068941 20200609 RGD PMID:21162131|REF_RGD_ID:10003146 11836937 GHR growth hormone receptor gene DOID:0060870 isolated growth hormone deficiency ISO RGD:69149 D RGD:9068941 20200609 RGD Laron syndrome,OMIM:262500;DNA:deletion PMID:2813379|REF_RGD_ID:1601315 11836937 GHR growth hormone receptor gene DOID:11476 osteoporosis ISO RGD:2687 D RGD:9068941 20200609 RGD associated with Cholestasis PMID:19424739|REF_RGD_ID:10003131 11836937 GHR growth hormone receptor gene DOID:11476 osteoporosis treatment ISO RGD:2687 D RGD:9068941 20200609 RGD associated with Uremia;protein:altered expression:osteoblast, osteoclast, chondroblast PMID:17647196|REF_RGD_ID:10003128 11836937 GHR growth hormone receptor gene DOID:12849 autistic disorder ISO RGD:69149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17547689 11836937 GHR growth hormone receptor gene DOID:13533 osteopetrosis ISO RGD:2687 D RGD:9068941 20200609 RGD protein:decreased expression:osteoclast PMID:14632687|REF_RGD_ID:2307374 11836937 GHR growth hormone receptor gene DOID:13580 cholestasis ISO RGD:10644 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver, skeletal muscle: PMID:15604202|REF_RGD_ID:11567216 11836937 GHR growth hormone receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:69149 D RGD:7240710 20180130 OMIM 11836937 GHR growth hormone receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:69149 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:12910492|PMID:17462934|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7565946|PMID:8504296 11836937 GHR growth hormone receptor gene DOID:1612 breast cancer ISO RGD:69149 D RGD:9068941 20200609 RGD protein:increased expression:serum:cases versus controls (p<0.01) PMID:17287408|REF_RGD_ID:2301716 11836937 GHR growth hormone receptor gene DOID:1826 epilepsy ISO RGD:69149 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizures PMID:10984309|PMID:25741868|PMID:28492532 11836937 GHR growth hormone receptor gene DOID:2962 Cockayne syndrome ISO RGD:10644 D RGD:9068941 20200609 RGD PMID:17326724|REF_RGD_ID:10003139 11836937 GHR growth hormone receptor gene DOID:5353 colonic disease ISO RGD:69149 D RGD:9068941 20200609 RGD associated with Acromegaly;DNA:deletion:exon PMID:19864451|REF_RGD_ID:10003142 11836937 GHR growth hormone receptor gene DOID:630 genetic disease ISO RGD:69149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11836937 GHR growth hormone receptor gene DOID:684 hepatocellular carcinoma ISO RGD:69149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11836937 GHR growth hormone receptor gene DOID:767 muscular atrophy ISO RGD:2687 D RGD:9068941 20200609 RGD mRNA:increased expression:soleus PMID:12865352|REF_RGD_ID:2307376 11836937 GHR growth hormone receptor gene DOID:767 muscular atrophy ISO RGD:2687 D RGD:9068941 20220224 RGD associated with microgravity; mRNA:increased expression:gastrocnemius (rat) PMID:14638460|REF_RGD_ID:151361116 11836937 GHR growth hormone receptor gene DOID:8398 osteoarthritis ISO RGD:69149 D RGD:9068941 20200609 RGD DNA:deletion:exon: PMID:23740230|REF_RGD_ID:10003113 11836937 GHR growth hormone receptor gene DOID:8927 learning disability ISO RGD:69149 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Specific learning disability PMID:10984309|PMID:25741868|PMID:28492532 11836937 GHR growth hormone receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2687 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:12679928|REF_RGD_ID:2307378 11836937 GHR growth hormone receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 11836937 GHR growth hormone receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:10644 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:10541297|REF_RGD_ID:2307370 11836937 GHR growth hormone receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:2687 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:15066219|REF_RGD_ID:2307364 11836937 GHR growth hormone receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:2687 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney PMID:10990443|REF_RGD_ID:2307368 11836937 GHR growth hormone receptor gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:10644 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:10614635|REF_RGD_ID:2307369 11836937 GHR growth hormone receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:69149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17220348 11836937 GHR growth hormone receptor gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2687 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19524466|REF_RGD_ID:2315620 11836937 GHR growth hormone receptor gene DOID:9004271 Colonic Polyps ISO RGD:69149 D RGD:9068941 20200609 RGD associated with Acromegaly;DNA:deletion:exon PMID:19864451|REF_RGD_ID:10003142 11836937 GHR growth hormone receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11836937 GHR growth hormone receptor gene DOID:9004484 Sepsis ISO RGD:2687 D RGD:9068941 20200609 RGD PMID:11126270|REF_RGD_ID:2307382 11836937 GHR growth hormone receptor gene DOID:9004552 Genu Varum ISO RGD:69149 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Genu varum PMID:10984309|PMID:25741868|PMID:28492532 11836937 GHR growth hormone receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:69149 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia PMID:12910492|PMID:17462934|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7565946|PMID:8504296 11836937 GHR growth hormone receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10644 D RGD:9068941 20200609 RGD PMID:12529387|REF_RGD_ID:2307365 11836937 GHR growth hormone receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2687 D RGD:9068941 20200609 RGD PMID:7964296|REF_RGD_ID:11567222 11836937 GHR growth hormone receptor gene DOID:9005930 Endotoxemia ISO RGD:2687 D RGD:9068941 20200609 RGD PMID:12217886|REF_RGD_ID:625688 11836937 GHR growth hormone receptor gene DOID:9005930 Endotoxemia ISO RGD:2687 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:12654216|REF_RGD_ID:2307380 11836937 GHR growth hormone receptor gene DOID:9006041 Osteoarthritis, Hip ISO RGD:69149 D RGD:9068941 20200609 RGD associated with Acromegaly;DNA:deletion:exon: PMID:19864451|REF_RGD_ID:10003142 11836937 GHR growth hormone receptor gene DOID:9006324 Isolated Growth Hormone Deficiency, Partial ISO RGD:69149 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Short stature due to growth hormone secretagogue receptor deficiency PMID:10984309|PMID:12217488|PMID:12910492|PMID:17274879|PMID:17462934|PMID:21525302|PMID:21846964|PMID:21900382|PMID:24150201|PMID:25741868|PMID:26467025|PMID:27408750|PMID:28492532|PMID:28498917|PMID:7565946|PMID:8504296|PMID:9140387|PMID:9814495 11836937 GHR growth hormone receptor gene DOID:9007102 Myocardial Ischemia ISO RGD:69149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11836937 GHR growth hormone receptor gene DOID:9007303 Idiopathic Short Stature, Autosomal ISO RGD:69149 D RGD:7240710 20180130 OMIM 11836937 GHR growth hormone receptor gene DOID:9007303 Idiopathic Short Stature, Autosomal ISO RGD:69149 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Growth hormone, insensitivity to, partial | ClinVar Annotator: match by term: Short stature, idiopathic, autosomal PMID:10984309|PMID:12217488|PMID:12910492|PMID:17274879|PMID:17462934|PMID:21525302|PMID:21846964|PMID:21900382|PMID:24150201|PMID:25741868|PMID:26467025|PMID:27408750|PMID:28492532|PMID:28498917|PMID:7565946|PMID:8504296|PMID:9140387|PMID:9814495 11836937 GHR growth hormone receptor gene DOID:9007661 Dwarfism ISO RGD:69149 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Short stature PMID:10984309|PMID:25741868|PMID:28492532 11836937 GHR growth hormone receptor gene DOID:9007661 Dwarfism treatment ISO RGD:69149 D RGD:9068941 20200609 RGD DNA:deletion:exon: PMID:22026923|REF_RGD_ID:11566042 11836937 GHR growth hormone receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:69149 D RGD:9068941 20200609 RGD DNA:deletion:exon (human) PMID:17537658|REF_RGD_ID:2307363 11836937 GHR growth hormone receptor gene DOID:9521 Laron syndrome ISO RGD:69149 D RGD:7240710 20180130 OMIM 11836937 GHR growth hormone receptor gene DOID:9521 Laron syndrome ISO RGD:69149 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Laron dwarfism | ClinVar Annotator: match by term: Laron syndrome with elevated serum GH-binding protein | ClinVar Annotator: match by term: Laron syndrome with undetectable serum GH-binding protein | ClinVar Annotator: match by term: Laron-type isolated somatotropin defect PMID:10084588|PMID:10984309|PMID:11395710|PMID:11468686|PMID:11785980|PMID:11836282|PMID:12181638|PMID:12217488|PMID:12423626|PMID:12679461|PMID:1284474|PMID:12910492|PMID:15001620|PMID:15055350|PMID:15536163|PMID:16213173|PMID:16381017|PMID:17148568|PMID:1719554|PMID:17405847|PMID:17462934|PMID:17547682|PMID:19344888|PMID:19447840|PMID:19815155|PMID:1999489|PMID:20962506|PMID:21525302|PMID:21846964|PMID:21900382|PMID:2233903|PMID:24150201|PMID:24335149|PMID:24664892|PMID:25411237|PMID:25741868|PMID:26467025|PMID:27408750|PMID:2779634|PMID:2813379|PMID:28492532|PMID:28498917|PMID:31690835|PMID:7565946|PMID:8137822|PMID:8421103|PMID:8450064|PMID:8488849|PMID:8504296|PMID:8521189|PMID:8626815|PMID:8664975|PMID:9360529|PMID:9467570|PMID:9626125|PMID:9661611|PMID:9661642|PMID:9814495|PMID:9851797 11836937 GHR growth hormone receptor gene DOID:9669 senile cataract ISO RGD:10644 D RGD:9068941 20200609 RGD PMID:16129095|REF_RGD_ID:10003112 11836937 GHR growth hormone receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:10644 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney, liver PMID:11469393|REF_RGD_ID:2307367 11836937 GHR growth hormone receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:69149 D RGD:9068941 20200609 RGD PMID:12054124|REF_RGD_ID:2307366 11836954 SELENON selenoprotein N gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1603617 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:11079538|PMID:11528383|PMID:12192640|PMID:12207930|PMID:15668457|PMID:15792869|PMID:16365872|PMID:17365175|PMID:17951086|PMID:18313359|PMID:18414213|PMID:18713863|PMID:19067361|PMID:20301436|PMID:20623375|PMID:21131290|PMID:21670436|PMID:23394784|PMID:24033266|PMID:24988964|PMID:25182138|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:28688748|PMID:30921636|PMID:30932294|PMID:31127727|PMID:31321302 11836954 SELENON selenoprotein N gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1603617 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:11079538|PMID:11528383|PMID:12192640|PMID:12207930|PMID:15122708|PMID:15668457|PMID:15792869|PMID:16365872|PMID:17365175|PMID:17951086|PMID:18313359|PMID:18414213|PMID:18713863|PMID:19067361|PMID:20301436|PMID:20623375|PMID:21131290|PMID:21670436|PMID:23394784|PMID:24033266|PMID:24988964|PMID:25182138|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:28558865|PMID:28688748|PMID:30921636|PMID:30932294|PMID:31127727|PMID:31321302|PMID:7224095 11836954 SELENON selenoprotein N gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1603617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:11079538|PMID:11528383|PMID:12192640|PMID:12207930|PMID:15122708|PMID:15668457|PMID:15792869|PMID:16365872|PMID:17365175|PMID:17951086|PMID:18313359|PMID:18414213|PMID:18713863|PMID:19067361|PMID:20301436|PMID:20623375|PMID:21131290|PMID:21670436|PMID:23394784|PMID:24033266|PMID:24988964|PMID:25182138|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:28558865|PMID:28688748|PMID:30921636|PMID:30932294|PMID:31127727|PMID:31321302|PMID:32746448|PMID:33652732|PMID:7224095 11836954 SELENON selenoprotein N gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1603617 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:11079538|PMID:11528383|PMID:12192640|PMID:12207930|PMID:15122708|PMID:15668457|PMID:15792869|PMID:16365872|PMID:17365175|PMID:17951086|PMID:18313359|PMID:18414213|PMID:18713863|PMID:19067361|PMID:20301436|PMID:20623375|PMID:21131290|PMID:21670436|PMID:23394784|PMID:24033266|PMID:24988964|PMID:25182138|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:28558865|PMID:28688748|PMID:30921636|PMID:30932294|PMID:31127727|PMID:31321302|PMID:32746448|PMID:32796131|PMID:33652732|PMID:7224095 11836954 SELENON selenoprotein N gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1603617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 11836954 SELENON selenoprotein N gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1603617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 11836954 SELENON selenoprotein N gene DOID:0110633 rigid spine muscular dystrophy 1 ISO RGD:1603617 D RGD:7240710 20180130 OMIM 11836954 SELENON selenoprotein N gene DOID:0110633 rigid spine muscular dystrophy 1 ISO RGD:1603617 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy PMID:11079538|PMID:11528383|PMID:1219264|PMID:12192640|PMID:12207930|PMID:15122708|PMID:15668457|PMID:15792869|PMID:16199547|PMID:16365872|PMID:16498447|PMID:16779558|PMID:17365175|PMID:17576681|PMID:17951086|PMID:18313359|PMID:18414213|PMID:18713863|PMID:19067361|PMID:19285539|PMID:19557870|PMID:19763152|PMID:20301436|PMID:20307669|PMID:20623375|PMID:20937510|PMID:21131290|PMID:21520333|PMID:21670436|PMID:22406018|PMID:23394784|PMID:24033266|PMID:24988964|PMID:25182138|PMID:25525159|PMID:25635128|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27066551|PMID:27447704|PMID:27863379|PMID:28357410|PMID:28492532|PMID:28558865|PMID:28688748|PMID:29172004|PMID:29382405|PMID:29669168|PMID:30612914|PMID:30642275|PMID:30921636|PMID:30932294|PMID:31127727|PMID:31321302|PMID:32154989|PMID:32528171|PMID:32746448|PMID:32796131|PMID:32860008|PMID:33184643|PMID:33333461|PMID:33652732|PMID:33762497|PMID:35368679|PMID:7224095|PMID:9536098|PMID:9585610 11836954 SELENON selenoprotein N gene DOID:630 genetic disease ISO RGD:1603617 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11836954 SELENON selenoprotein N gene DOID:9005077 Joint Instability ISO RGD:1603617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joint laxity PMID:25741868|PMID:28492532 11836954 SELENON selenoprotein N gene DOID:9884 muscular dystrophy ISO RGD:1603617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:11079538|PMID:11528383|PMID:12192640|PMID:12207930|PMID:17365175|PMID:17951086|PMID:18313359|PMID:18713863|PMID:19067361|PMID:21670436|PMID:23394784|PMID:24033266|PMID:24988964|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30921636 11836970 C16H16orf78 chromosome 16 C16orf78 homolog gene DOID:630 genetic disease ISO RGD:1605880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11836980 SYCP2 synaptonemal complex protein 2 gene DOID:0070168 spermatogenic failure 3 ISO RGD:69483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:31866047 11836980 SYCP2 synaptonemal complex protein 2 gene DOID:0070176 spermatogenic failure 4 ISO RGD:69483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early spermatogenesis maturation arrest PMID:25741868|PMID:31866047 11836980 SYCP2 synaptonemal complex protein 2 gene DOID:0070188 spermatogenic failure 1 ISO RGD:69483 D RGD:7240710 20200318 OMIM 11836980 SYCP2 synaptonemal complex protein 2 gene DOID:0070188 spermatogenic failure 1 ISO RGD:69483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligosynaptic infertility PMID:25741868|PMID:31866047 11836980 SYCP2 synaptonemal complex protein 2 gene DOID:10283 prostate cancer ISO RGD:69483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11836980 SYCP2 synaptonemal complex protein 2 gene DOID:630 genetic disease ISO RGD:69483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11836980 SYCP2 synaptonemal complex protein 2 gene DOID:9003436 CRYPTOZOOSPERMIA ISO RGD:69483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryptozoospermia PMID:25741868|PMID:31866047 11837027 TBPL1 TATA-box binding protein like 1 gene DOID:630 genetic disease ISO RGD:1315592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11837048 LRRC43 leucine rich repeat containing 43 gene DOID:0080600 COVID-19 ISO RGD:1602639 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11837048 LRRC43 leucine rich repeat containing 43 gene DOID:630 genetic disease ISO RGD:1602639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11837064 DMBX1 diencephalon/mesencephalon homeobox 1 gene DOID:630 genetic disease ISO RGD:1317940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11837064 DMBX1 diencephalon/mesencephalon homeobox 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1317940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 11837084 FAM98C family with sequence similarity 98 member C gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1604231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 11837084 FAM98C family with sequence similarity 98 member C gene DOID:630 genetic disease ISO RGD:1604231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11837113 CNBP CCHC-type zinc finger nucleic acid binding protein gene DOID:0050759 myotonic dystrophy type 2 ISO RGD:733498 D RGD:7240710 20190315 OMIM 11837113 CNBP CCHC-type zinc finger nucleic acid binding protein gene DOID:0050759 myotonic dystrophy type 2 ISO RGD:733498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myotonic dystrophy type 2 PMID:25741868 11837113 CNBP CCHC-type zinc finger nucleic acid binding protein gene DOID:0111947 immunodeficiency 21 ISO RGD:733498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:28492532 11837113 CNBP CCHC-type zinc finger nucleic acid binding protein gene DOID:450 myotonic disease ISO RGD:733498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11837113 CNBP CCHC-type zinc finger nucleic acid binding protein gene DOID:630 genetic disease ISO RGD:733498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11837113 CNBP CCHC-type zinc finger nucleic acid binding protein gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:733498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 11837113 CNBP CCHC-type zinc finger nucleic acid binding protein gene DOID:9270 alkaptonuria ISO RGD:733498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11837124 TLN1 talin 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1314756 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 11837124 TLN1 talin 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1314756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11837124 TLN1 talin 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1314756 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11837124 TLN1 talin 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:1314756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11837124 TLN1 talin 1 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1314756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11837124 TLN1 talin 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1314756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11837124 TLN1 talin 1 gene DOID:11476 osteoporosis ISO RGD:1314756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 11837124 TLN1 talin 1 gene DOID:14400 capillary leak syndrome ISO RGD:1314756 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Capillary leak syndrome PMID:25741868 11837124 TLN1 talin 1 gene DOID:630 genetic disease ISO RGD:1314756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11837124 TLN1 talin 1 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1314756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11837124 TLN1 talin 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1314756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21291860 11837124 TLN1 talin 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1314756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11837124 TLN1 talin 1 gene DOID:9870 galactosemia ISO RGD:1314756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11837189 ATP2B4 ATPase plasma membrane Ca2+ transporting 4 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1348952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11837189 ATP2B4 ATPase plasma membrane Ca2+ transporting 4 gene DOID:10283 prostate cancer ISO RGD:1348952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11837189 ATP2B4 ATPase plasma membrane Ca2+ transporting 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1348952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11837189 ATP2B4 ATPase plasma membrane Ca2+ transporting 4 gene DOID:543 dystonia ISO RGD:621305 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebellar cortex PMID:17092653|REF_RGD_ID:1599351 11837189 ATP2B4 ATPase plasma membrane Ca2+ transporting 4 gene DOID:630 genetic disease ISO RGD:1348952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11837189 ATP2B4 ATPase plasma membrane Ca2+ transporting 4 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1348952 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11837189 ATP2B4 ATPase plasma membrane Ca2+ transporting 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11837228 DDA1 DET1 and DDB1 associated 1 gene DOID:630 genetic disease ISO RGD:1601973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11837237 IGFBPL1 insulin like growth factor binding protein like 1 gene DOID:630 genetic disease ISO RGD:1313812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11837256 CYP26B1 cytochrome P450 family 26 subfamily B member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736189 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11837256 CYP26B1 cytochrome P450 family 26 subfamily B member 1 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:736189 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11837256 CYP26B1 cytochrome P450 family 26 subfamily B member 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736189 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29379198 11837256 CYP26B1 cytochrome P450 family 26 subfamily B member 1 gene DOID:403 mouth disease ISO RGD:736189 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 11837256 CYP26B1 cytochrome P450 family 26 subfamily B member 1 gene DOID:543 dystonia ISO RGD:736189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11837256 CYP26B1 cytochrome P450 family 26 subfamily B member 1 gene DOID:630 genetic disease ISO RGD:736189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11837256 CYP26B1 cytochrome P450 family 26 subfamily B member 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736189 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 11837256 CYP26B1 cytochrome P450 family 26 subfamily B member 1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:736189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11837256 CYP26B1 cytochrome P450 family 26 subfamily B member 1 gene DOID:9000725 Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies ISO RGD:736189 D RGD:7240710 20180130 OMIM 11837256 CYP26B1 cytochrome P450 family 26 subfamily B member 1 gene DOID:9000725 Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies ISO RGD:736189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Radiohumeral fusions with other skeletal and craniofacial anomalies PMID:22019272|PMID:25741868 11837256 CYP26B1 cytochrome P450 family 26 subfamily B member 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:736189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:31837199 11837256 CYP26B1 cytochrome P450 family 26 subfamily B member 1 gene DOID:9970 obesity ISO RGD:736189 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 11837271 STAC2 SH3 and cysteine rich domain 2 gene DOID:630 genetic disease ISO RGD:1313639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11837271 STAC2 SH3 and cysteine rich domain 2 gene DOID:9002189 High Myopia ISO RGD:1313639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11837271 STAC2 SH3 and cysteine rich domain 2 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1313639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 11837299 MYMX myomixer, myoblast fusion factor gene DOID:9004768 Carey-Fineman-Ziter Syndrome 2 ISO RGD:12904116 D RGD:7240710 20220706 OMIM 11837299 MYMX myomixer, myoblast fusion factor gene DOID:9004768 Carey-Fineman-Ziter Syndrome 2 ISO RGD:12904116 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2 PMID:35642635 11837336 RPL39 ribosomal protein L39 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11837336 RPL39 ribosomal protein L39 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:735612 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 11837336 RPL39 ribosomal protein L39 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:735612 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 11837336 RPL39 ribosomal protein L39 gene DOID:12849 autistic disorder ISO RGD:735612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11837336 RPL39 ribosomal protein L39 gene DOID:630 genetic disease ISO RGD:735612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11837348 IFT172 intraflagellar transport 172 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:731569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11837348 IFT172 intraflagellar transport 172 gene DOID:0050651 atrioventricular septal defect ISO RGD:1552058 D RGD:9068941 20220825 MouseDO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 11837348 IFT172 intraflagellar transport 172 gene DOID:0050777 Joubert syndrome ISO RGD:731569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:24140113|PMID:25741868|PMID:26092869 11837348 IFT172 intraflagellar transport 172 gene DOID:0081009 Bardet-Biedl syndrome 20 ISO RGD:731569 D RGD:7240710 20210818 OMIM 11837348 IFT172 intraflagellar transport 172 gene DOID:0081009 Bardet-Biedl syndrome 20 ISO RGD:731569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 20 PMID:24290075|PMID:25168386|PMID:25741868|PMID:26763875|PMID:28492532|PMID:31587445|PMID:32451492 11837348 IFT172 intraflagellar transport 172 gene DOID:0081011 Bardet-Biedl syndrome 22 ISO RGD:731569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 22 PMID:24290075|PMID:25741868|PMID:28492532|PMID:31587445|PMID:32451492 11837348 IFT172 intraflagellar transport 172 gene DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly ISO RGD:731569 D RGD:7240710 20180130 OMIM 11837348 IFT172 intraflagellar transport 172 gene DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly ISO RGD:731569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with polydactyly | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 without polydactyly PMID:11030072|PMID:16199547|PMID:17576681|PMID:24033266|PMID:24140113|PMID:24290075|PMID:25168386|PMID:25640679|PMID:25664603|PMID:25741868|PMID:26092869|PMID:26893459|PMID:28492532|PMID:28559085|PMID:29068549|PMID:31054281|PMID:31475041|PMID:31587445|PMID:32451492|PMID:32783370|PMID:32939031|PMID:33393400|PMID:34567078|PMID:9536098 11837348 IFT172 intraflagellar transport 172 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:731569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:24140113|PMID:25741868|PMID:28492532|PMID:29068549 11837348 IFT172 intraflagellar transport 172 gene DOID:0110363 retinitis pigmentosa 71 ISO RGD:731569 D RGD:7240710 20180130 OMIM 11837348 IFT172 intraflagellar transport 172 gene DOID:0110363 retinitis pigmentosa 71 ISO RGD:731569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 71 PMID:16199547|PMID:24140113|PMID:25168386|PMID:25741868|PMID:28492532|PMID:32783370 11837348 IFT172 intraflagellar transport 172 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:731569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459|PMID:28492532 11837348 IFT172 intraflagellar transport 172 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:731569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11837348 IFT172 intraflagellar transport 172 gene DOID:10584 retinitis pigmentosa ISO RGD:731569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11030072|PMID:24140113|PMID:25664603|PMID:25741868|PMID:28492532 11837348 IFT172 intraflagellar transport 172 gene DOID:12712 nephronophthisis ISO RGD:731569 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868 11837348 IFT172 intraflagellar transport 172 gene DOID:14679 VACTERL association ISO RGD:1552058 D RGD:9068941 20220825 MouseDO OMIM:192350 | OMIM:276950 11837348 IFT172 intraflagellar transport 172 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:731569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:24033266|PMID:24140113|PMID:25168386|PMID:25741868|PMID:28492532 11837348 IFT172 intraflagellar transport 172 gene DOID:630 genetic disease ISO RGD:731569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31475041 11837348 IFT172 intraflagellar transport 172 gene DOID:8466 retinal degeneration ISO RGD:1552058 D RGD:9068941 20220825 MouseDO 11837348 IFT172 intraflagellar transport 172 gene DOID:8501 fundus dystrophy ISO RGD:731569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24140113|PMID:25741868|PMID:28492532|PMID:28559085 11837348 IFT172 intraflagellar transport 172 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731569 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 11837348 IFT172 intraflagellar transport 172 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11837402 MMP20 matrix metallopeptidase 20 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1318675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 11837402 MMP20 matrix metallopeptidase 20 gene DOID:0080226 autosomal dominant intellectual developmental disorder 56 ISO RGD:1318675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 PMID:15744043|PMID:16246936|PMID:18096894|PMID:19966041|PMID:22243262|PMID:23355523|PMID:23625376|PMID:25741868|PMID:26124219 11837402 MMP20 matrix metallopeptidase 20 gene DOID:0110056 amelogenesis imperfecta type 1C ISO RGD:1318675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive 11837402 MMP20 matrix metallopeptidase 20 gene DOID:0110060 amelogenesis imperfecta hypomaturation type 2A2 ISO RGD:1318675 D RGD:7240710 20180130 OMIM 11837402 MMP20 matrix metallopeptidase 20 gene DOID:0110060 amelogenesis imperfecta hypomaturation type 2A2 ISO RGD:1318675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2 PMID:15744043|PMID:16246936|PMID:18096894|PMID:19966041|PMID:21597265|PMID:22243262|PMID:23355523|PMID:23625376|PMID:25741868|PMID:26502894|PMID:28473773|PMID:28492532|PMID:28659819 11837402 MMP20 matrix metallopeptidase 20 gene DOID:1059 intellectual disability ISO RGD:1318675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11837402 MMP20 matrix metallopeptidase 20 gene DOID:12704 ataxia telangiectasia ISO RGD:1318675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11837402 MMP20 matrix metallopeptidase 20 gene DOID:5419 schizophrenia ISO RGD:1318675 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11837402 MMP20 matrix metallopeptidase 20 gene DOID:630 genetic disease ISO RGD:1318675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11837419 PRIMPOL primase and DNA directed polymerase gene DOID:630 genetic disease ISO RGD:1605846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11837419 PRIMPOL primase and DNA directed polymerase gene DOID:9003490 Myopia 22, Autosomal Dominant ISO RGD:1605846 D RGD:7240710 20190315 OMIM 11837419 PRIMPOL primase and DNA directed polymerase gene DOID:9003490 Myopia 22, Autosomal Dominant ISO RGD:1605846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia 22, autosomal dominant PMID:23579484 11837458 IKZF4 IKAROS family zinc finger 4 gene DOID:0111888 Diamond-Blackfan anemia 10 ISO RGD:1312328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 PMID:20116044|PMID:22045982|PMID:22689679|PMID:23718193|PMID:23812780|PMID:28492532 11837458 IKZF4 IKAROS family zinc finger 4 gene DOID:12306 vitiligo ISO RGD:1312328 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 11837458 IKZF4 IKAROS family zinc finger 4 gene DOID:630 genetic disease ISO RGD:1312328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11837458 IKZF4 IKAROS family zinc finger 4 gene DOID:640 encephalomyelitis ISO RGD:1312329 D RGD:9068941 20220825 MouseDO 11837458 IKZF4 IKAROS family zinc finger 4 gene DOID:986 alopecia areata ISO RGD:1312328 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20596022 11837503 STRIP2 striatin interacting protein 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11837503 STRIP2 striatin interacting protein 2 gene DOID:630 genetic disease ISO RGD:1344527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11837528 HMOX2 heme oxygenase 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:68991 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11837528 HMOX2 heme oxygenase 2 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:68991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 11837528 HMOX2 heme oxygenase 2 gene DOID:10024 migraine with aura ISO RGD:68991 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:35115687 11837528 HMOX2 heme oxygenase 2 gene DOID:1826 epilepsy ISO RGD:68991 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11837528 HMOX2 heme oxygenase 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:68991 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11837528 HMOX2 heme oxygenase 2 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:68991 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 11837528 HMOX2 heme oxygenase 2 gene DOID:630 genetic disease ISO RGD:68991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11837528 HMOX2 heme oxygenase 2 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:68991 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16459095 11837564 REST RE1 silencing transcription factor gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1347756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:28492532 11837564 REST RE1 silencing transcription factor gene DOID:0080280 gingival fibromatosis 5 ISO RGD:1347756 D RGD:7240710 20230517 OMIM 11837564 REST RE1 silencing transcription factor gene DOID:0080280 gingival fibromatosis 5 ISO RGD:1347756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FIBROMATOSIS, GINGIVAL, HEREDITARY, 5 | ClinVar Annotator: match by term: Fibromatosis, gingival, 5 PMID:25741868|PMID:28492532|PMID:28686854|PMID:33719663 11837564 REST RE1 silencing transcription factor gene DOID:0110556 autosomal dominant nonsyndromic deafness 27 ISO RGD:1347756 D RGD:7240710 20230517 OMIM 11837564 REST RE1 silencing transcription factor gene DOID:0110556 autosomal dominant nonsyndromic deafness 27 ISO RGD:1347756 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 27 PMID:25741868|PMID:28492532|PMID:29961578|PMID:34828371 11837564 REST RE1 silencing transcription factor gene DOID:2154 nephroblastoma ISO RGD:1347756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551668 11837564 REST RE1 silencing transcription factor gene DOID:630 genetic disease ISO RGD:1347756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11837564 REST RE1 silencing transcription factor gene DOID:9003873 Gingival Fibromatosis 1 ISO RGD:1347756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibromatosis, gingival, 1 PMID:28492532|PMID:28686854 11837564 REST RE1 silencing transcription factor gene DOID:9007268 Wilms Tumor 6 ISO RGD:1347756 D RGD:7240710 20230517 OMIM 11837564 REST RE1 silencing transcription factor gene DOID:9007268 Wilms Tumor 6 ISO RGD:1347756 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wilms tumor 6 PMID:25741868|PMID:26551668|PMID:28492532 11837582 GOSR1 golgi SNAP receptor complex member 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737606 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 11837582 GOSR1 golgi SNAP receptor complex member 1 gene DOID:630 genetic disease ISO RGD:737606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11837605 ASTE1 asteroid homolog 1 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1606299 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 11837605 ASTE1 asteroid homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:1606299 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 11837605 ASTE1 asteroid homolog 1 gene DOID:630 genetic disease ISO RGD:1606299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11837605 ASTE1 asteroid homolog 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1606299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 11837605 ASTE1 asteroid homolog 1 gene DOID:9270 alkaptonuria ISO RGD:1606299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11837617 JAK1 Janus kinase 1 gene DOID:0080162 lupus nephritis ISO RGD:69102 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:31182691 11837617 JAK1 Janus kinase 1 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:69102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome PMID:27993330 11837617 JAK1 Janus kinase 1 gene DOID:10283 prostate cancer severity ISO RGD:69102 D RGD:9068941 20211203 RGD DNA:frameshift mutations PMID:29121062|REF_RGD_ID:150524355 11837617 JAK1 Janus kinase 1 gene DOID:10534 stomach cancer ISO RGD:69102 D RGD:9068941 20211203 RGD DNA:SNP: :rs2230587A (human) PMID:27049718|REF_RGD_ID:14975290 11837617 JAK1 Janus kinase 1 gene DOID:10534 stomach cancer severity ISO RGD:69102 D RGD:9068941 20211203 RGD DNA:frameshift mutations PMID:29121062|REF_RGD_ID:150524355 11837617 JAK1 Janus kinase 1 gene DOID:1059 intellectual disability ISO RGD:69102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11837617 JAK1 Janus kinase 1 gene DOID:11446 sciatic neuropathy ISO RGD:69056 D RGD:9068941 20211203 RGD mRNA:increased expression:spinal cord PMID:32012267|REF_RGD_ID:150527842 11837617 JAK1 Janus kinase 1 gene DOID:1380 endometrial cancer severity ISO RGD:69102 D RGD:9068941 20211203 RGD DNA:frameshift mutations PMID:29121062|REF_RGD_ID:150524355 11837617 JAK1 Janus kinase 1 gene DOID:224 transient cerebral ischemia ISO RGD:69056 D RGD:9068941 20200609 RGD PMID:10756075|REF_RGD_ID:19165138 11837617 JAK1 Janus kinase 1 gene DOID:2394 ovarian cancer treatment ISO RGD:69102 D RGD:9068941 20200609 RGD PMID:25319391|REF_RGD_ID:19165135 11837617 JAK1 Janus kinase 1 gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:69102 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic ductal cell (human) PMID:28677798|REF_RGD_ID:13838745 11837617 JAK1 Janus kinase 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:69102 D RGD:9068941 20211203 RGD protein:increased phosphorylation:lung PMID:28989534|REF_RGD_ID:150524360 11837617 JAK1 Janus kinase 1 gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:69102 D RGD:9068941 20200609 RGD human cell line in a mouse model PMID:29328487|REF_RGD_ID:13838743 11837617 JAK1 Janus kinase 1 gene DOID:5082 liver cirrhosis treatment ISO RGD:69103 D RGD:9068941 20200609 RGD associated with Schistosomiasis Japonica PMID:27439782|REF_RGD_ID:19165137 11837617 JAK1 Janus kinase 1 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:69102 D RGD:9068941 20200609 RGD DNA:missense mutation: :c.1972G>T (p.V658F) (human) PMID:18559588|REF_RGD_ID:18936996 11837617 JAK1 Janus kinase 1 gene DOID:630 genetic disease ISO RGD:69102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20167706|PMID:25356970|PMID:28111307|PMID:28492532 11837617 JAK1 Janus kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:69102 D RGD:9068941 20211203 RGD PMID:23788652|REF_RGD_ID:150524353 11837617 JAK1 Janus kinase 1 gene DOID:824 periodontitis treatment ISO RGD:69103 D RGD:9068941 20200609 RGD PMID:26825585|REF_RGD_ID:18936995 11837617 JAK1 Janus kinase 1 gene DOID:824 periodontitis treatment ISO RGD:69103 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23333931|REF_RGD_ID:18936997 11837617 JAK1 Janus kinase 1 gene DOID:8997 polycythemia vera ISO RGD:69102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycythemia rubra vera PMID:16239216|PMID:19139102|PMID:19470474|PMID:19838194|PMID:21436584|PMID:21680795 11837617 JAK1 Janus kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11837617 JAK1 Janus kinase 1 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:69056 D RGD:9068941 20200609 RGD PMID:29452839|REF_RGD_ID:19165139 11837617 JAK1 Janus kinase 1 gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features ISO RGD:69102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features PMID:16239216|PMID:19139102|PMID:19470474|PMID:19838194|PMID:20167706|PMID:21436584|PMID:21680795|PMID:22955920|PMID:25356970|PMID:28111307 11837617 JAK1 Janus kinase 1 gene DOID:9002669 Hypoxia ISO RGD:69056 D RGD:9068941 20211203 RGD mRNA, protein:increased expression:lung PMID:14703438|REF_RGD_ID:150527843 11837617 JAK1 Janus kinase 1 gene DOID:9005382 X-Linked Acute Leukemia ISO RGD:69102 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leukemia, acute, X-linked PMID:16239216|PMID:19139102|PMID:19470474|PMID:19838194|PMID:21436584|PMID:21680795 11837617 JAK1 Janus kinase 1 gene DOID:9006876 Autoinflammation, Immunde Dysregulation, and Eosinophilia ISO RGD:69102 D RGD:7240710 20200930 OMIM 11837617 JAK1 Janus kinase 1 gene DOID:9006876 Autoinflammation, Immunde Dysregulation, and Eosinophilia ISO RGD:69102 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: ATOPIC DERMATITIS, ENTERITIS, COLITIS, AND EOSINOPHILIA PMID:20167706|PMID:24728327|PMID:25356970|PMID:25741868|PMID:28111307|PMID:28492532|PMID:32750333|PMID:35046931 11837617 JAK1 Janus kinase 1 gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:69056 D RGD:9068941 20200609 RGD PMID:21369693|REF_RGD_ID:19165136 11837617 JAK1 Janus kinase 1 gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:69102 D RGD:9068941 20200609 RGD DNA:SNPs: :rs4244165, rs17127024 (human) PMID:22901011|REF_RGD_ID:19165132 11837617 JAK1 Janus kinase 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:69103 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 11837617 JAK1 Janus kinase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:69102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:16239216|PMID:19139102|PMID:19470474|PMID:19838194|PMID:21436584|PMID:21680795 11837617 JAK1 Janus kinase 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:69102 D RGD:9068941 20200609 RGD DNA:frameshift mutations PMID:28539123|REF_RGD_ID:18936998 11837617 JAK1 Janus kinase 1 gene DOID:9256 colorectal cancer severity ISO RGD:69102 D RGD:9068941 20211203 RGD DNA:frameshift mutations PMID:29121062|REF_RGD_ID:150524355 11837645 LOC100972703 cytochrome c oxidase subunit 6B1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1343660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11837645 LOC100972703 cytochrome c oxidase subunit 6B1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1343660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11837645 LOC100972703 cytochrome c oxidase subunit 6B1 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1343660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:18499082|PMID:24781756|PMID:25741868|PMID:28492532 11837645 LOC100972703 cytochrome c oxidase subunit 6B1 gene DOID:543 dystonia ISO RGD:1343660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11837645 LOC100972703 cytochrome c oxidase subunit 6B1 gene DOID:630 genetic disease ISO RGD:1343660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11837645 LOC100972703 cytochrome c oxidase subunit 6B1 gene DOID:9003553 Mitochondrial Complex IV Deficiency, Nuclear Type 7 ISO RGD:1343660 D RGD:7240710 20201111 OMIM 11837645 LOC100972703 cytochrome c oxidase subunit 6B1 gene DOID:9003553 Mitochondrial Complex IV Deficiency, Nuclear Type 7 ISO RGD:1343660 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 PMID:25741868|PMID:28492532 11837645 LOC100972703 cytochrome c oxidase subunit 6B1 gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:1343660 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:25741868 11837666 PLBD1 phospholipase B domain containing 1 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1605619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 11837666 PLBD1 phospholipase B domain containing 1 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1605619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 11837666 PLBD1 phospholipase B domain containing 1 gene DOID:0080600 COVID-19 ISO RGD:1605619 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11837666 PLBD1 phospholipase B domain containing 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605619 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 11837666 PLBD1 phospholipase B domain containing 1 gene DOID:630 genetic disease ISO RGD:1605619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11837681 PORCN porcupine O-acyltransferase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11837681 PORCN porcupine O-acyltransferase gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1603972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 11837681 PORCN porcupine O-acyltransferase gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1603972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11837681 PORCN porcupine O-acyltransferase gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1603972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11837681 PORCN porcupine O-acyltransferase gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1603972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11837681 PORCN porcupine O-acyltransferase gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1603972 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 11837681 PORCN porcupine O-acyltransferase gene DOID:12849 autistic disorder ISO RGD:1603972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11837681 PORCN porcupine O-acyltransferase gene DOID:2120 focal dermal hypoplasia ISO RGD:1603972 D RGD:7240710 20180130 OMIM 11837681 PORCN porcupine O-acyltransferase gene DOID:2120 focal dermal hypoplasia ISO RGD:1603972 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Focal dermal hypoplasia PMID:17546030|PMID:17546031|PMID:18325042|PMID:19277062|PMID:19309688|PMID:19586929|PMID:19863546|PMID:21484999|PMID:22888000|PMID:25640089|PMID:25741868|PMID:28492532|PMID:30022487|PMID:32141364 11837681 PORCN porcupine O-acyltransferase gene DOID:630 genetic disease ISO RGD:1603972 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17546030|PMID:17546031|PMID:19277062|PMID:19309688|PMID:20854095|PMID:21484999|PMID:25640089|PMID:25741868|PMID:28492532 11837681 PORCN porcupine O-acyltransferase gene DOID:9008086 Developmental Disabilities ISO RGD:1603972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741874 11837729 URGCP upregulator of cell proliferation gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11837729 URGCP upregulator of cell proliferation gene DOID:630 genetic disease ISO RGD:1604342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11837744 HYAL3 hyaluronidase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 11837744 HYAL3 hyaluronidase 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 11837744 HYAL3 hyaluronidase 3 gene DOID:630 genetic disease ISO RGD:1344724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11837744 HYAL3 hyaluronidase 3 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1344724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11837744 HYAL3 hyaluronidase 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1344724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11837761 POLR3D RNA polymerase III subunit D gene DOID:630 genetic disease ISO RGD:1323468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11837761 POLR3D RNA polymerase III subunit D gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1323468 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 11837795 AVL9 AVL9 cell migration associated gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11837795 AVL9 AVL9 cell migration associated gene DOID:630 genetic disease ISO RGD:1604629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11837795 AVL9 AVL9 cell migration associated gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1604629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11837796 DUSP12 dual specificity phosphatase 12 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:731810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 11837796 DUSP12 dual specificity phosphatase 12 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:731810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11837796 DUSP12 dual specificity phosphatase 12 gene DOID:1540 parathyroid carcinoma ISO RGD:731810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11837796 DUSP12 dual specificity phosphatase 12 gene DOID:630 genetic disease ISO RGD:731810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11837796 DUSP12 dual specificity phosphatase 12 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11837806 ANO10 anoctamin 10 gene DOID:0050729 neutral lipid storage disease ISO RGD:1605667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis PMID:11590543|PMID:28492532 11837806 ANO10 anoctamin 10 gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:1605667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia PMID:24033266|PMID:25089919|PMID:25133958|PMID:25182700|PMID:25664549|PMID:25664551|PMID:25741868|PMID:26467025|PMID:27045840|PMID:27142713|PMID:28492532|PMID:29482223|PMID:29915382|PMID:30078120 11837806 ANO10 anoctamin 10 gene DOID:0050999 autosomal recessive spinocerebellar ataxia 10 ISO RGD:1605667 D RGD:7240710 20180130 OMIM 11837806 ANO10 anoctamin 10 gene DOID:0050999 autosomal recessive spinocerebellar ataxia 10 ISO RGD:1605667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 10 PMID:21092923|PMID:24033266|PMID:25089919|PMID:25133958|PMID:25182700|PMID:25425649|PMID:25664549|PMID:25664551|PMID:25730773|PMID:25741868|PMID:25976027|PMID:26467025|PMID:27045840|PMID:27091155|PMID:27142713|PMID:27270446|PMID:28492532|PMID:29482223|PMID:29915382|PMID:30078120|PMID:31477691|PMID:32620747|PMID:33223419|PMID:34906502 11837806 ANO10 anoctamin 10 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1605667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 11837806 ANO10 anoctamin 10 gene DOID:630 genetic disease ISO RGD:1605667 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 11837806 ANO10 anoctamin 10 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1605667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar Ataxia, Recessive PMID:24033266|PMID:25089919|PMID:25133958|PMID:25182700|PMID:25664549|PMID:25664551|PMID:25741868|PMID:26467025|PMID:27045840|PMID:27142713|PMID:28492532|PMID:29482223|PMID:29915382|PMID:30078120 11837829 NOTCH3 notch receptor 3 gene DOID:0060041 autism spectrum disorder ISO RGD:732750 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11837829 NOTCH3 notch receptor 3 gene DOID:0060669 cerebral cavernous malformation ISO RGD:732750 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation PMID:25741868|PMID:28492532 11837829 NOTCH3 notch receptor 3 gene DOID:0080109 infantile myofibromatosis ISO RGD:732750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11837829 NOTCH3 notch receptor 3 gene DOID:0111035 CADASIL 1 ISO RGD:732750 D RGD:7240710 20180130 OMIM 11837829 NOTCH3 notch receptor 3 gene DOID:0111035 CADASIL 1 ISO RGD:732750 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 | ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | ClinVar Annotator: match by term: Recurrent subcortical infarcts PMID:10227618|PMID:10371548|PMID:10712431|PMID:10716263|PMID:10802804|PMID:10854111|PMID:10969905|PMID:11102981|PMID:11486103|PMID:11559313|PMID:11571335|PMID:11706120|PMID:11715067|PMID:11755616|PMID:11757773|PMID:11771160|PMID:11784372|PMID:12136071|PMID:12146805|PMID:12196662|PMID:12395806|PMID:12482954|PMID:12721871|PMID:12754354|PMID:12810003|PMID:12821756|PMID:12821764|PMID:12861102|PMID:14714274|PMID:15229130|PMID:15350543|PMID:15364702|PMID:15378071|PMID:15694192|PMID:15776792|PMID:15827866|PMID:15834039|PMID:15857853|PMID:15981641|PMID:15995828|PMID:16009764|PMID:16193256|PMID:16256149|PMID:16580020|PMID:16717210|PMID:16730748|PMID:16791082|PMID:16864835|PMID:17122431|PMID:17135568|PMID:17218610|PMID:17323840|PMID:17389000|PMID:17390743|PMID:17729386|PMID:17761910|PMID:17879445|PMID:17879447|PMID:18386330|PMID:18386331|PMID:18765654|PMID:18803652|PMID:18948701|PMID:19006080|PMID:19043263|PMID:19080749|PMID:19174371|PMID:19180562|PMID:19242647|PMID:19245392|PMID:19252787|PMID:19293235|PMID:19359623|PMID:19417009|PMID:19488902|PMID:19528524|PMID:19539236|PMID:19542611|PMID:19576955|PMID:19683925|PMID:19825845|PMID:20038773|PMID:20071773|PMID:20167921|PMID:20169447|PMID:20301673|PMID:20851625|PMID:20857162|PMID:20935329|PMID:20981092|PMID:21078731|PMID:21345538|PMID:21387384|PMID:21448560|PMID:21555590|PMID:21616505|PMID:21737310|PMID:21786151|PMID:21852154|PMID:21940951|PMID:22006983|PMID:22019870|PMID:22053260|PMID:22082899|PMID:22153900|PMID:22159056|PMID:22206696|PMID:22218279|PMID:22367839|PMID:22373597|PMID:22623959|PMID:22664156|PMID:22688109|PMID:22795385|PMID:22878905|PMID:22936449|PMID:23025651|PMID:23028706|PMID:23064698|PMID:23412372|PMID:23584202|PMID:23602593|PMID:23623146|PMID:23639391|PMID:23649698|PMID:23844775|PMID:23847153|PMID:24033266|PMID:24086431|PMID:24139282|PMID:24344756|PMID:24425116|PMID:24480794|PMID:24840674|PMID:24844136|PMID:24886907|PMID:24929957|PMID:24936512|PMID:25033846|PMID:25260786|PMID:25326637|PMID:25344745|PMID:25412914|PMID:25578324|PMID:25604251|PMID:25623805|PMID:25692567|PMID:25741868|PMID:25801821|PMID:25819272|PMID:25834748|PMID:25870235|PMID:25914166|PMID:25929831|PMID:25959358|PMID:25973016|PMID:25980907|PMID:25982499|PMID:26002683|PMID:26261665|PMID:26270344|PMID:26305465|PMID:26308724|PMID:26368811|PMID:26467025|PMID:26618768|PMID:26646783|PMID:26671140|PMID:26715087|PMID:26806700|PMID:26843489|PMID:26850715|PMID:26856460|PMID:26889213|PMID:26894465|PMID:26912635|PMID:27174004|PMID:27206574|PMID:27293347|PMID:27350778|PMID:27423596|PMID:27770446|PMID:27844030|PMID:27881154|PMID:27884173|PMID:27890607|PMID:28166811|PMID:28334938|PMID:28341077|PMID:28479817|PMID:28492532|PMID:28534048|PMID:28601945|PMID:28710804|PMID:28815929|PMID:28860774|PMID:28902129|PMID:28991717|PMID:29188607|PMID:29363903|PMID:29449082|PMID:29980472|PMID:30031255|PMID:30032161|PMID:30076350|PMID:30199759|PMID:30279455|PMID:30311053|PMID:30338453|PMID:30355220|PMID:30402942|PMID:30532056|PMID:30656190|PMID:30906334|PMID:30954774|PMID:30956055|PMID:31028544|PMID:31212292|PMID:31418856|PMID:31443546|PMID:31554780|PMID:31792094|PMID:31799216|PMID:31813735|PMID:31915071|PMID:31960911|PMID:31998484|PMID:32055601|PMID:32122318|PMID:32128266|PMID:32172663|PMID:32196841|PMID:32277177|PMID:32387185|PMID:32457593|PMID:32552418|PMID:32573853|PMID:32581362|PMID:32612778|PMID:32732295|PMID:33013620|PMID:33020014|PMID:33091750|PMID:33109952|PMID:33268848|PMID:33310205|PMID:33712516|PMID:33942994|PMID:34008892|PMID:34335700|PMID:34841502|PMID:3484396|PMID:34851492|PMID:8878478|PMID:9388399 11837829 NOTCH3 notch receptor 3 gene DOID:0111036 CADASIL2 ISO RGD:732750 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 PMID:28492532 11837829 NOTCH3 notch receptor 3 gene DOID:0111343 lateral meningocele syndrome ISO RGD:732750 D RGD:7240710 20180130 OMIM 11837829 NOTCH3 notch receptor 3 gene DOID:0111343 lateral meningocele syndrome ISO RGD:732750 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lateral meningocele syndrome PMID:15666314|PMID:21337686|PMID:21448560|PMID:23696373|PMID:24086431|PMID:25394726|PMID:25741868|PMID:26467025|PMID:26754023|PMID:28492532|PMID:9188658 11837829 NOTCH3 notch receptor 3 gene DOID:10024 migraine with aura ISO RGD:732750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Migraine with aura PMID:32581362 11837829 NOTCH3 notch receptor 3 gene DOID:10283 prostate cancer ISO RGD:732750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:15364702|PMID:16328531|PMID:23265383|PMID:25033846|PMID:26308724|PMID:26467025|PMID:7732783 11837829 NOTCH3 notch receptor 3 gene DOID:12783 migraine without aura ISO RGD:732750 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Migraine without aura PMID:12754354|PMID:15229130|PMID:15857853|PMID:20071773|PMID:21940951|PMID:24425116|PMID:24886907|PMID:25412914|PMID:25741868|PMID:26467025|PMID:28334938|PMID:28492532|PMID:31418856|PMID:32277177|PMID:32581362|PMID:34335700|PMID:8878478|PMID:9388399 11837829 NOTCH3 notch receptor 3 gene DOID:13945 CADASIL ISO RGD:732750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | ClinVar Annotator: match by term: Dementia, hereditary multi-infarct type PMID:10371548|PMID:11102981|PMID:11559313|PMID:14714274|PMID:15229130|PMID:15694192|PMID:15834039|PMID:16009764|PMID:16580020|PMID:16717210|PMID:17135568|PMID:19153638|PMID:19242647|PMID:19252787|PMID:19293235|PMID:20038773|PMID:20301673|PMID:20935329|PMID:20975277|PMID:21852154|PMID:22082899|PMID:22259617|PMID:23602593|PMID:23847153|PMID:24139282|PMID:24344756|PMID:24480794|PMID:24840674|PMID:25033846|PMID:25344745|PMID:25623805|PMID:25692567|PMID:25741868|PMID:25914166|PMID:25959358|PMID:26002683|PMID:26270344|PMID:26308724|PMID:26368811|PMID:26467025|PMID:26671140|PMID:27245348|PMID:27881154|PMID:27890607|PMID:28334938|PMID:28492532|PMID:28555127|PMID:29544907|PMID:29980472|PMID:30199759|PMID:30311053|PMID:30656190|PMID:30906334|PMID:31554780|PMID:31792094|PMID:31836585|PMID:31915071|PMID:32055601|PMID:32122318|PMID:32277177|PMID:32457593|PMID:32573853|PMID:33712516|PMID:34352628|PMID:35300531|PMID:8878478 11837829 NOTCH3 notch receptor 3 gene DOID:1596 depressive disorder ISO RGD:732750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Depression PMID:15364702|PMID:16009764|PMID:21616505|PMID:28492532|PMID:32581362 11837829 NOTCH3 notch receptor 3 gene DOID:1749 squamous cell carcinoma ISO RGD:732750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27923803 11837829 NOTCH3 notch receptor 3 gene DOID:1826 epilepsy ISO RGD:732750 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11837829 NOTCH3 notch receptor 3 gene DOID:3007 breast ductal carcinoma ISO RGD:732750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 11837829 NOTCH3 notch receptor 3 gene DOID:3068 glioblastoma ISO RGD:732750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 11837829 NOTCH3 notch receptor 3 gene DOID:3526 cerebral infarction ISO RGD:732750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ischemic stroke PMID:10371548|PMID:10802804|PMID:10854111|PMID:11102981|PMID:11755616|PMID:15364702|PMID:16009764|PMID:16193256|PMID:17729386|PMID:20301673|PMID:24844136|PMID:25578324|PMID:25623805|PMID:25741868|PMID:25973016|PMID:26308724|PMID:26467025|PMID:26715087|PMID:26843489|PMID:26912635|PMID:27206574|PMID:27890607|PMID:28492532|PMID:28710804|PMID:31915071|PMID:32457593|PMID:32581362|PMID:9388399 11837829 NOTCH3 notch receptor 3 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:732750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 11837829 NOTCH3 notch receptor 3 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 11837829 NOTCH3 notch receptor 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21994468 11837829 NOTCH3 notch receptor 3 gene DOID:630 genetic disease ISO RGD:732750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14714274|PMID:19539236|PMID:19855400|PMID:20167921|PMID:22495309|PMID:24000151|PMID:24840674|PMID:24936512|PMID:25394726|PMID:25741868|PMID:25870235|PMID:25914166|PMID:26308724|PMID:26467025|PMID:27844030|PMID:28166811|PMID:28492532|PMID:30032161|PMID:30532056|PMID:33268848|PMID:33310205|PMID:34841502 11837829 NOTCH3 notch receptor 3 gene DOID:6364 migraine ISO RGD:732750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Migraine PMID:25741868 11837829 NOTCH3 notch receptor 3 gene DOID:684 hepatocellular carcinoma ISO RGD:732750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11837829 NOTCH3 notch receptor 3 gene DOID:8725 vascular dementia ISO RGD:732750 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:14714274|PMID:15364702|PMID:16009764|PMID:24840674|PMID:25033846|PMID:25741868|PMID:25914166|PMID:26308724|PMID:26467025|PMID:27844030|PMID:28492532|PMID:30032161|PMID:30402942|PMID:30532056|PMID:33268848|PMID:33310205|PMID:34841502 11837829 NOTCH3 notch receptor 3 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:732750 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:22006983|PMID:22153900|PMID:22159056|PMID:24086431|PMID:25741868|PMID:26467025|PMID:26894465|PMID:28492532 11837829 NOTCH3 notch receptor 3 gene DOID:9002746 Infantile Myofibromatosis 2 ISO RGD:732750 D RGD:7240710 20180130 OMIM 11837829 NOTCH3 notch receptor 3 gene DOID:9002746 Infantile Myofibromatosis 2 ISO RGD:732750 D RGD:8554872 20230117 ClinVar ClinVar Annotator: match by term: Myofibromatosis, infantile, 2 PMID:23731542|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32732295 11837829 NOTCH3 notch receptor 3 gene DOID:9003208 Progressive Psychomotor Deterioration ISO RGD:732750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive psychomotor deterioration PMID:32581362 11837829 NOTCH3 notch receptor 3 gene DOID:9004241 Infantile Myofibromatosis 1 ISO RGD:732750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibromatosis, infantile, 1 PMID:23731542 11837829 NOTCH3 notch receptor 3 gene DOID:9004464 Skin Neoplasms ISO RGD:732750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27923803 11837829 NOTCH3 notch receptor 3 gene DOID:9005172 Lung Neoplasms ISO RGD:732750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17804716 11837829 NOTCH3 notch receptor 3 gene DOID:9006182 Carotid Artery Injuries ISO RGD:620761 D RGD:9068941 20200609 RGD PMID:11971902|REF_RGD_ID:625426 11837829 NOTCH3 notch receptor 3 gene DOID:9007096 Stroke ISO RGD:732750 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:26467025|PMID:27844030|PMID:28492532|PMID:32581362 11837829 NOTCH3 notch receptor 3 gene DOID:9008939 Breast Neoplasms ISO RGD:732750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 11837829 NOTCH3 notch receptor 3 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1552400 D RGD:9068941 20220825 MouseDO OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 11837866 TBPL2 TATA-box binding protein like 2 gene DOID:630 genetic disease ISO RGD:1342829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11837877 OSBPL3 oxysterol binding protein like 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11837877 OSBPL3 oxysterol binding protein like 3 gene DOID:630 genetic disease ISO RGD:1350234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11837913 C11H11orf71 chromosome 11 C11orf71 homolog gene DOID:1059 intellectual disability ISO RGD:1604001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11837913 C11H11orf71 chromosome 11 C11orf71 homolog gene DOID:630 genetic disease ISO RGD:1604001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11837913 C11H11orf71 chromosome 11 C11orf71 homolog gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11837929 RNF34 ring finger protein 34 gene DOID:630 genetic disease ISO RGD:1352323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11837929 RNF34 ring finger protein 34 gene DOID:9002928 Colonic Neoplasms ISO RGD:1352323 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16270526 11837947 PRSS8 serine protease 8 gene DOID:0060713 autosomal recessive congenital ichthyosis 4B ISO RGD:730926 D RGD:9068941 20220825 MouseDO OMIM:242500 11837947 PRSS8 serine protease 8 gene DOID:0080074 neural tube defect ISO RGD:730925 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24722141 11837947 PRSS8 serine protease 8 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:730925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11837947 PRSS8 serine protease 8 gene DOID:2394 ovarian cancer ISO RGD:730925 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11584061|REF_RGD_ID:2292486 11837947 PRSS8 serine protease 8 gene DOID:3459 breast carcinoma ISO RGD:730925 D RGD:9068941 20200609 RGD PMID:11774283|REF_RGD_ID:2292485 11837947 PRSS8 serine protease 8 gene DOID:37 skin disease ISO RGD:730925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22705055 11837947 PRSS8 serine protease 8 gene DOID:630 genetic disease ISO RGD:730925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11837947 PRSS8 serine protease 8 gene DOID:780 placenta disease ISO RGD:730925 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24722141 11837947 PRSS8 serine protease 8 gene DOID:8634 prostate carcinoma in situ disease_progression ISO RGD:730925 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland PMID:12518323|REF_RGD_ID:2292484 11837947 PRSS8 serine protease 8 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730925 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;mRNA:decreased expression:prostate gland, bone PMID:12518323|REF_RGD_ID:2292484 11837947 PRSS8 serine protease 8 gene DOID:9001984 Fetal Diseases ISO RGD:730925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22705055 11837947 PRSS8 serine protease 8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16541421 11837947 PRSS8 serine protease 8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730925 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:12518323|REF_RGD_ID:2292484 11837947 PRSS8 serine protease 8 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:730925 D RGD:9068941 20200609 RGD mRNA:increased expression:blood PMID:11173941|REF_RGD_ID:2292487 11837947 PRSS8 serine protease 8 gene DOID:9007023 Prenatal Injuries ISO RGD:730925 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24722141 11837947 PRSS8 serine protease 8 gene DOID:987 alopecia ISO RGD:619973 D RGD:9068941 20211022 RGD DNA:deletion:cds:exon 3 (rat) PMID:20201958|REF_RGD_ID:150520038 11837958 DDHD2 DDHD domain containing 2 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1318138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 11837958 DDHD2 DDHD domain containing 2 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1318138 D RGD:7240710 20180130 OMIM 11837958 DDHD2 DDHD domain containing 2 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1318138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:16199547|PMID:16636240|PMID:17576681|PMID:23176823|PMID:23486545|PMID:24337409|PMID:24482476|PMID:24517879|PMID:25417924|PMID:25741868|PMID:28492532|PMID:31271950|PMID:31302745|PMID:32488064|PMID:9536098 11837958 DDHD2 DDHD domain containing 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1318138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17576681|PMID:23176823|PMID:24337409|PMID:24517879|PMID:25417924|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32488064|PMID:9536098 11837958 DDHD2 DDHD domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1318138 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:33462483 11837958 DDHD2 DDHD domain containing 2 gene DOID:607 paraplegia ISO RGD:1318138 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11837958 DDHD2 DDHD domain containing 2 gene DOID:630 genetic disease ISO RGD:1318138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11837958 DDHD2 DDHD domain containing 2 gene DOID:9970 obesity ISO RGD:1318138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:23176823|PMID:24337409|PMID:24517879|PMID:25417924|PMID:25741868|PMID:28492532|PMID:32488064 11837994 DNAAF2 dynein axonemal assembly factor 2 gene DOID:0050144 Kartagener syndrome ISO RGD:1321142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:19052621|PMID:24498942 11837994 DNAAF2 dynein axonemal assembly factor 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1321142 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11837994 DNAAF2 dynein axonemal assembly factor 2 gene DOID:0070253 congenital disorder of glycosylation type IIa ISO RGD:1321142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkuraya syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIa PMID:28492532 11837994 DNAAF2 dynein axonemal assembly factor 2 gene DOID:0110612 primary ciliary dyskinesia 10 ISO RGD:1321142 D RGD:7240710 20190315 OMIM 11837994 DNAAF2 dynein axonemal assembly factor 2 gene DOID:0110612 primary ciliary dyskinesia 10 ISO RGD:1321142 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 10 PMID:19052621|PMID:24033266|PMID:24498942|PMID:25741868|PMID:28492532|PMID:32638265 11837994 DNAAF2 dynein axonemal assembly factor 2 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1321142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:24033266|PMID:25741868|PMID:28492532 11837994 DNAAF2 dynein axonemal assembly factor 2 gene DOID:630 genetic disease ISO RGD:1321142 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 11837994 DNAAF2 dynein axonemal assembly factor 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321142 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11837994 DNAAF2 dynein axonemal assembly factor 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:17576681|PMID:19052621|PMID:24033266|PMID:24498942|PMID:25741868|PMID:28492532|PMID:32719396|PMID:9536098 11838001 ELAC1 elaC ribonuclease Z 1 gene DOID:1059 intellectual disability ISO RGD:1312386 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11838001 ELAC1 elaC ribonuclease Z 1 gene DOID:630 genetic disease ISO RGD:1312386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838013 RXYLT1 ribitol xylosyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1319660 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:23217329|PMID:24033266|PMID:25741868|PMID:28492532 11838013 RXYLT1 ribitol xylosyltransferase 1 gene DOID:0111239 congenital muscular dystrophy-dystroglycanopathy type A10 ISO RGD:1319660 D RGD:7240710 20180130 OMIM 11838013 RXYLT1 ribitol xylosyltransferase 1 gene DOID:0111239 congenital muscular dystrophy-dystroglycanopathy type A10 ISO RGD:1319660 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 PMID:17576681|PMID:23217329|PMID:23519211|PMID:24033266|PMID:25640679|PMID:25741868|PMID:28492532|PMID:30017359|PMID:31742715|PMID:9536098 11838013 RXYLT1 ribitol xylosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1319660 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838035 SERPINA3 serpin family A member 3 gene DOID:0081063 DICER1 syndrome ISO RGD:1343168 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 11838035 SERPINA3 serpin family A member 3 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1343168 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:2432615|REF_RGD_ID:5147458 11838035 SERPINA3 serpin family A member 3 gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1343168 D RGD:9068941 20200806 RGD mRNA,protein:increased expression:frontal cortex: PMID:29142239|REF_RGD_ID:36947868 11838035 SERPINA3 serpin family A member 3 gene DOID:1485 cystic fibrosis severity ISO RGD:1343168 D RGD:9068941 20200609 RGD PMID:11120905|REF_RGD_ID:5147439 11838035 SERPINA3 serpin family A member 3 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1343168 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16649161|REF_RGD_ID:5147434 11838035 SERPINA3 serpin family A member 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1343168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANTICHYMOTRYPSIN BONN 1 PMID:1351206|PMID:8102759|PMID:8244391 11838035 SERPINA3 serpin family A member 3 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1343168 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.A-15T (human) PMID:10849024|REF_RGD_ID:5147441 11838035 SERPINA3 serpin family A member 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1343168 D RGD:9068941 20200609 RGD protein:increased expression:cytoplasm PMID:8620411|REF_RGD_ID:5147446 11838035 SERPINA3 serpin family A member 3 gene DOID:630 genetic disease ISO RGD:1343168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838035 SERPINA3 serpin family A member 3 gene DOID:784 chronic kidney disease ISO RGD:1343168 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35635602 11838035 SERPINA3 serpin family A member 3 gene DOID:865 vasculitis ISO RGD:1343168 D RGD:9068941 20200609 RGD PMID:12685871|REF_RGD_ID:1580110 11838035 SERPINA3 serpin family A member 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18383875 11838035 SERPINA3 serpin family A member 3 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1343168 D RGD:9068941 20200609 RGD PMID:12126519|REF_RGD_ID:1580109 11838035 SERPINA3 serpin family A member 3 gene DOID:9005420 Peripheral Arterial Occlusive Disease 1 ISO RGD:1343168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral arterial occlusive disease 1 PMID:11289720|PMID:1618300|PMID:25741868|PMID:9040504 11838035 SERPINA3 serpin family A member 3 gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:1343168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANTICHYMOTRYPSIN ISEHARA 1 PMID:11289720|PMID:1618300|PMID:25741868|PMID:9040504 11838035 SERPINA3 serpin family A member 3 gene DOID:9007557 Laryngeal Papillomatosis ISO RGD:1343168 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:16273852|REF_RGD_ID:5147435 11838035 SERPINA3 serpin family A member 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1343168 D RGD:9068941 20200609 RGD PMID:7562495|REF_RGD_ID:5147423 11838035 SERPINA3 serpin family A member 3 gene DOID:9455 lipid storage disease ISO RGD:1343168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414|PMID:17175557 11838049 APBB1 amyloid beta precursor protein binding family B member 1 gene DOID:0070111 Niemann-Pick disease type A ISO RGD:1349313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:1391960|PMID:15221801|PMID:17011332|PMID:18815062|PMID:1885770|PMID:2023926|PMID:21502868|PMID:25741868|PMID:27725636|PMID:28492532|PMID:29995201 11838049 APBB1 amyloid beta precursor protein binding family B member 1 gene DOID:0070112 Niemann-Pick disease type B ISO RGD:1349313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:1391960|PMID:15221801|PMID:17011332|PMID:18815062|PMID:1885770|PMID:2023926|PMID:21502868|PMID:25741868|PMID:27725636|PMID:28492532|PMID:29995201 11838049 APBB1 amyloid beta precursor protein binding family B member 1 gene DOID:10652 Alzheimer's disease ISO RGD:1349313 D RGD:9068941 20200609 RGD mRNA:altered expression:brain: PMID:10723070|REF_RGD_ID:10054036 11838049 APBB1 amyloid beta precursor protein binding family B member 1 gene DOID:10652 Alzheimer's disease no_association ISO RGD:1349313 D RGD:9068941 20200609 RGD DNA:polymorphism:intron: PMID:11099823|REF_RGD_ID:10054028 11838049 APBB1 amyloid beta precursor protein binding family B member 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1349313 D RGD:9068941 20200609 RGD DNA:deletion:intron: PMID:12727304|REF_RGD_ID:10054031 11838049 APBB1 amyloid beta precursor protein binding family B member 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1349313 D RGD:9068941 20200609 RGD DNA:mutations::multiple PMID:9799084|REF_RGD_ID:2301212 11838049 APBB1 amyloid beta precursor protein binding family B member 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1349313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11838049 APBB1 amyloid beta precursor protein binding family B member 1 gene DOID:630 genetic disease ISO RGD:1349313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838049 APBB1 amyloid beta precursor protein binding family B member 1 gene DOID:9000998 Brain Injuries ISO RGD:2122 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:12707777|REF_RGD_ID:2301208 11838049 APBB1 amyloid beta precursor protein binding family B member 1 gene DOID:9001310 Tobacco Use Disorder susceptibility ISO RGD:1349313 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype:multiple: PMID:18777128|REF_RGD_ID:10054043 11838086 PITPNC1 phosphatidylinositol transfer protein cytoplasmic 1 gene DOID:630 genetic disease ISO RGD:1312467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838110 TESPA1 thymocyte expressed, positive selection associated 1 gene DOID:630 genetic disease ISO RGD:1605107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838127 ZC3H13 zinc finger CCCH-type containing 13 gene DOID:630 genetic disease ISO RGD:1317090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838127 ZC3H13 zinc finger CCCH-type containing 13 gene DOID:9002189 High Myopia ISO RGD:1317090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11838128 CA7 carbonic anhydrase 7 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1315686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11838128 CA7 carbonic anhydrase 7 gene DOID:0110255 cataract 5 multiple types ISO RGD:1315686 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 11838128 CA7 carbonic anhydrase 7 gene DOID:630 genetic disease ISO RGD:1315686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838171 RPS27A ribosomal protein S27a gene DOID:630 genetic disease ISO RGD:736388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838171 RPS27A ribosomal protein S27a gene DOID:9000998 Brain Injuries ISO RGD:6489478 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex, hippocampus PMID:17936732|REF_RGD_ID:11041870 11838187 AMMECR1 AMMECR nuclear protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11838187 AMMECR1 AMMECR nuclear protein 1 gene DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ISO RGD:1347096 D RGD:7240710 20190315 OMIM 11838187 AMMECR1 AMMECR nuclear protein 1 gene DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ISO RGD:1347096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis PMID:21681106|PMID:25741868|PMID:27811305|PMID:28089922|PMID:28492532|PMID:29174631|PMID:29193635 11838187 AMMECR1 AMMECR nuclear protein 1 gene DOID:12849 autistic disorder ISO RGD:1347096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11838187 AMMECR1 AMMECR nuclear protein 1 gene DOID:5419 schizophrenia ISO RGD:1347096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11838187 AMMECR1 AMMECR nuclear protein 1 gene DOID:630 genetic disease ISO RGD:1347096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838187 AMMECR1 AMMECR nuclear protein 1 gene DOID:9007661 Dwarfism ISO RGD:1347096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11838197 LRRC3B leucine rich repeat containing 3B gene DOID:630 genetic disease ISO RGD:1345434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838197 LRRC3B leucine rich repeat containing 3B gene DOID:9000217 Stomach Neoplasms ISO RGD:1345434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18757430 11838197 LRRC3B leucine rich repeat containing 3B gene DOID:9008443 Colorectal Neoplasms ISO RGD:1345434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18815942 11838197 LRRC3B leucine rich repeat containing 3B gene DOID:9008939 Breast Neoplasms ISO RGD:1345434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 11838210 SENP5 SUMO specific peptidase 5 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1312139 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 11838210 SENP5 SUMO specific peptidase 5 gene DOID:12849 autistic disorder ISO RGD:1312139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11838210 SENP5 SUMO specific peptidase 5 gene DOID:5419 schizophrenia ISO RGD:1312139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11838210 SENP5 SUMO specific peptidase 5 gene DOID:630 genetic disease ISO RGD:1312139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838225 FAM222B family with sequence similarity 222 member B gene DOID:630 genetic disease ISO RGD:1603991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838254 CACNG4 calcium voltage-gated channel auxiliary subunit gamma 4 gene DOID:630 genetic disease ISO RGD:735495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838254 CACNG4 calcium voltage-gated channel auxiliary subunit gamma 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628804 D RGD:9068941 20200609 RGD mRNA:decreased expression:sinoatrial node: PMID:27096430|REF_RGD_ID:13524560 11838254 CACNG4 calcium voltage-gated channel auxiliary subunit gamma 4 gene DOID:9408 acute myocardial infarction ISO RGD:735495 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood: PMID:27746059|REF_RGD_ID:13524557 11838263 CLN6 CLN6 transmembrane ER protein gene DOID:0050952 spastic ataxia ISO RGD:1320201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 11838263 CLN6 CLN6 transmembrane ER protein gene DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy ISO RGD:1320201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy PMID:25741868|PMID:26467025|PMID:28492532 11838263 CLN6 CLN6 transmembrane ER protein gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:1320201 D RGD:7240710 20180130 OMIM 11838263 CLN6 CLN6 transmembrane ER protein gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:1320201 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 6A | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 6 PMID:11727201|PMID:11791207|PMID:12673792|PMID:12815591|PMID:15265688|PMID:15996215|PMID:16199547|PMID:17453415|PMID:17576681|PMID:18414213|PMID:18684116|PMID:18811591|PMID:18846690|PMID:19135028|PMID:19201763|PMID:20020536|PMID:20301601|PMID:21359198|PMID:21549341|PMID:21819394|PMID:21990111|PMID:25359263|PMID:25401298|PMID:25590979|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26115733|PMID:26206375|PMID:26374131|PMID:26467025|PMID:26539891|PMID:27553520|PMID:27903347|PMID:28492532|PMID:28587997|PMID:28831385|PMID:29140481|PMID:30019023|PMID:30285654|PMID:30528883|PMID:30561534|PMID:31216804|PMID:31319225|PMID:31489614|PMID:32171521|PMID:33024953|PMID:34597687|PMID:35505348|PMID:9536098 11838263 CLN6 CLN6 transmembrane ER protein gene DOID:0110730 neuronal ceroid lipofuscinosis 6B ISO RGD:1320201 D RGD:7240710 20180314 OMIM 11838263 CLN6 CLN6 transmembrane ER protein gene DOID:0110730 neuronal ceroid lipofuscinosis 6B ISO RGD:1320201 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 4A autosomal recessive | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 4A PMID:12673792|PMID:12815591|PMID:14997940|PMID:18846690|PMID:19135028|PMID:19201763|PMID:21549341|PMID:21990111|PMID:25741868|PMID:26075876|PMID:26115733|PMID:26467025|PMID:26539891|PMID:27535533|PMID:27903347|PMID:28492532|PMID:30285654|PMID:30561534|PMID:31489614|PMID:3284607|PMID:33875558|PMID:35505348 11838263 CLN6 CLN6 transmembrane ER protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1320201 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:11727201|PMID:11791207|PMID:12673792|PMID:12815591|PMID:14997940|PMID:15265688|PMID:15996215|PMID:16199547|PMID:17046213|PMID:17453415|PMID:17576681|PMID:17988881|PMID:18414213|PMID:18684116|PMID:18811591|PMID:18846690|PMID:19135028|PMID:19201763|PMID:20020536|PMID:20301601|PMID:20430023|PMID:21359198|PMID:21549341|PMID:21819394|PMID:21990111|PMID:22883287|PMID:24102492|PMID:24215330|PMID:25359263|PMID:25401298|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26115733|PMID:26206375|PMID:26374131|PMID:26467025|PMID:26539891|PMID:27535533|PMID:27553520|PMID:27903347|PMID:28492532|PMID:28587997|PMID:28831385|PMID:29140481|PMID:30019023|PMID:30285654|PMID:30528883|PMID:30561534|PMID:31216804|PMID:31319225|PMID:31489614|PMID:31741823|PMID:32171521|PMID:33024953|PMID:34597687|PMID:35505348|PMID:9536098 11838263 CLN6 CLN6 transmembrane ER protein gene DOID:1826 epilepsy ISO RGD:1320201 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:11727201|PMID:11791207|PMID:12673792|PMID:12815591|PMID:14997940|PMID:15265688|PMID:16199547|PMID:19135028|PMID:21359198|PMID:21549341|PMID:21990111|PMID:25359263|PMID:25741868|PMID:26075876|PMID:26467025|PMID:27535533|PMID:27553520|PMID:28492532|PMID:30019023|PMID:30285654|PMID:30561534 11838263 CLN6 CLN6 transmembrane ER protein gene DOID:2717 Bloom syndrome ISO RGD:1320201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11838263 CLN6 CLN6 transmembrane ER protein gene DOID:630 genetic disease ISO RGD:1320201 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11727201|PMID:11791207|PMID:12673792|PMID:12815591|PMID:14997940|PMID:15265688|PMID:16199547|PMID:17576681|PMID:18811591|PMID:19135028|PMID:20301601|PMID:20430023|PMID:21359198|PMID:21549341|PMID:21990111|PMID:25359263|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26206375|PMID:26467025|PMID:27535533|PMID:27553520|PMID:28492532|PMID:30019023|PMID:30285654|PMID:30528883|PMID:30561534|PMID:31489614|PMID:35505348|PMID:9536098 11838263 CLN6 CLN6 transmembrane ER protein gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive 11838263 CLN6 CLN6 transmembrane ER protein gene DOID:9000343 Vision Disorders ISO RGD:1320201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23789114 11838263 CLN6 CLN6 transmembrane ER protein gene DOID:9001981 Weight Loss ISO RGD:1320201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23789114 11838263 CLN6 CLN6 transmembrane ER protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11838263 CLN6 CLN6 transmembrane ER protein gene DOID:9004462 Atrophy ISO RGD:1320201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23789114 11838263 CLN6 CLN6 transmembrane ER protein gene DOID:9005372 Inflammation ISO RGD:1320201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23789114 11838263 CLN6 CLN6 transmembrane ER protein gene DOID:9006205 Animal Disease Models ISO RGD:1320201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23789114 11838263 CLN6 CLN6 transmembrane ER protein gene DOID:9006534 Nervous System Malformations ISO RGD:1320201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11838263 CLN6 CLN6 transmembrane ER protein gene DOID:9256 colorectal cancer ISO RGD:1320201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11838263 CLN6 CLN6 transmembrane ER protein gene DOID:9923 developmental coordination disorder ISO RGD:1320201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23789114 11838276 SNRNP70 small nuclear ribonucleoprotein U1 subunit 70 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1316126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11838276 SNRNP70 small nuclear ribonucleoprotein U1 subunit 70 gene DOID:0111076 progressive familial heart block type IB ISO RGD:1316126 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:28492532 11838276 SNRNP70 small nuclear ribonucleoprotein U1 subunit 70 gene DOID:10652 Alzheimer's disease ISO RGD:1316126 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (human) PMID:24023061|REF_RGD_ID:10448959 11838276 SNRNP70 small nuclear ribonucleoprotein U1 subunit 70 gene DOID:150 disease of mental health ISO RGD:1316126 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic PMID:22454191|REF_RGD_ID:10448939 11838276 SNRNP70 small nuclear ribonucleoprotein U1 subunit 70 gene DOID:630 genetic disease ISO RGD:1316126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838276 SNRNP70 small nuclear ribonucleoprotein U1 subunit 70 gene DOID:9008086 Developmental Disabilities ISO RGD:1316126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11838276 SNRNP70 small nuclear ribonucleoprotein U1 subunit 70 gene DOID:9074 systemic lupus erythematosus ISO RGD:1316126 D RGD:9068941 20200609 RGD PMID:22454191|REF_RGD_ID:10448939 11838276 SNRNP70 small nuclear ribonucleoprotein U1 subunit 70 gene DOID:9074 systemic lupus erythematosus ISO RGD:1316127 D RGD:9068941 20200609 RGD PMID:10940910|REF_RGD_ID:10448935 11838293 LOC100971108 ropporin-1B gene DOID:630 genetic disease ISO RGD:1603561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838293 LOC100971108 ropporin-1B gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1603561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 11838293 LOC100971108 ropporin-1B gene DOID:9270 alkaptonuria ISO RGD:1603561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11838303 URI1 URI1 prefoldin like chaperone gene DOID:305 carcinoma ISO RGD:1321217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21397856 11838303 URI1 URI1 prefoldin like chaperone gene DOID:630 genetic disease ISO RGD:1321217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838303 URI1 URI1 prefoldin like chaperone gene DOID:9002170 Experimental Neoplasms ISO RGD:1321217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21397856 11838303 URI1 URI1 prefoldin like chaperone gene DOID:9002762 Ovarian Neoplasms ISO RGD:1321217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21397856 11838320 LOC100971425 somatotropin gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:69101 D RGD:9068941 20200609 RGD PMID:22506635|REF_RGD_ID:10401267 11838320 LOC100971425 somatotropin gene DOID:0050328 congenital hypothyroidism treatment ISO RGD:2686 D RGD:9068941 20200609 RGD PMID:21162131|REF_RGD_ID:10003146 11838320 LOC100971425 somatotropin gene DOID:0060870 isolated growth hormone deficiency ISO RGD:69101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Growth hormone deficiency | ClinVar Annotator: match by term: Isolated congenital growth hormone deficiency PMID:12655556|PMID:12655557|PMID:13572267|PMID:15001589|PMID:16741161|PMID:17223997|PMID:18160466|PMID:18473352|PMID:18785993|PMID:18950677|PMID:23182822|PMID:24635352|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30753492|PMID:33729509|PMID:9152628 11838320 LOC100971425 somatotropin gene DOID:0060872 isolated growth hormone deficiency type II ISO RGD:69101 D RGD:7240710 20180130 OMIM 11838320 LOC100971425 somatotropin gene DOID:0060872 isolated growth hormone deficiency type II ISO RGD:69101 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: IGHD II | ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant PMID:10372722|PMID:10445339|PMID:10469016|PMID:10549303|PMID:10629163|PMID:10698162|PMID:11502827|PMID:11502836|PMID:11836331|PMID:11914025|PMID:12000366|PMID:12399418|PMID:12510984|PMID:12574219|PMID:12655557|PMID:12720086|PMID:15001589|PMID:15671105|PMID:16368751|PMID:16491012|PMID:17038549|PMID:17073157|PMID:17178704|PMID:17336732|PMID:17360215|PMID:17726075|PMID:17785368|PMID:18160466|PMID:18473352|PMID:18785993|PMID:18950677|PMID:20351314|PMID:21546299|PMID:23417163|PMID:23736291|PMID:25741868|PMID:26467025|PMID:27253996|PMID:28492532|PMID:28626954|PMID:29739035|PMID:7567462|PMID:7714096|PMID:8530604|PMID:8923859|PMID:9152628|PMID:9175738|PMID:9432120|PMID:9554464|PMID:9578959|PMID:9700205|PMID:9799079 11838320 LOC100971425 somatotropin gene DOID:0060873 isolated growth hormone deficiency type IA ISO RGD:69101 D RGD:7240710 20180130 OMIM 11838320 LOC100971425 somatotropin gene DOID:0060873 isolated growth hormone deficiency type IA ISO RGD:69101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated growth hormone deficiency type 1B | ClinVar Annotator: match by term: Pituitary dwarfism 1 PMID:10372722|PMID:10445339|PMID:12655557|PMID:15001589|PMID:18160466|PMID:18950677|PMID:2347891|PMID:24635352|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8364549|PMID:8496314|PMID:8530604|PMID:9152628 11838320 LOC100971425 somatotropin gene DOID:0060874 isolated growth hormone deficiency type IB ISO RGD:69101 D RGD:7240710 20180130 OMIM 11838320 LOC100971425 somatotropin gene DOID:0060874 isolated growth hormone deficiency type IB ISO RGD:69101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: IGHD IB | ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB PMID:10372722|PMID:10445339|PMID:10678654|PMID:10689634|PMID:12655557|PMID:15001589|PMID:18160466|PMID:18950677|PMID:24635352|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8496314|PMID:8530604|PMID:9152628 11838320 LOC100971425 somatotropin gene DOID:11476 osteoporosis ISO RGD:2686 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:1466160|REF_RGD_ID:10003132 11838320 LOC100971425 somatotropin gene DOID:11714 gestational diabetes ISO RGD:69101 D RGD:9068941 20200609 RGD protein:increased expression: PMID:3519044|REF_RGD_ID:2315681 11838320 LOC100971425 somatotropin gene DOID:12241 beta thalassemia treatment ISO RGD:69101 D RGD:9068941 20200609 RGD PMID:2045623|REF_RGD_ID:11352730 11838320 LOC100971425 somatotropin gene DOID:1287 cardiovascular system disease ISO RGD:69101 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17324600 11838320 LOC100971425 somatotropin gene DOID:1339 Diamond-Blackfan anemia treatment ISO RGD:69101 D RGD:9068941 20200609 RGD PMID:25492299|REF_RGD_ID:11352737 11838320 LOC100971425 somatotropin gene DOID:2355 anemia treatment ISO RGD:69101 D RGD:9068941 20200609 RGD PMID:11895216|REF_RGD_ID:11352732 11838320 LOC100971425 somatotropin gene DOID:2449 acromegaly ISO RGD:69101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1682667|PMID:18381583|PMID:18388193|PMID:3059976|PMID:6237480|PMID:7440347|PMID:9186818 11838320 LOC100971425 somatotropin gene DOID:2945 severe acute respiratory syndrome ISO RGD:69101 D RGD:9068941 20200609 RGD protein:decreased expression:adenohypophysis (human) PMID:20651845|REF_RGD_ID:28711759 11838320 LOC100971425 somatotropin gene DOID:3491 Turner syndrome ISO RGD:69101 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15151564 11838320 LOC100971425 somatotropin gene DOID:3911 progeria treatment ISO RGD:10643 D RGD:9068941 20200609 RGD PMID:20805469|REF_RGD_ID:10003141 11838320 LOC100971425 somatotropin gene DOID:3911 progeria treatment ISO RGD:69101 D RGD:9068941 20200609 RGD PMID:20805469|REF_RGD_ID:10003141 11838320 LOC100971425 somatotropin gene DOID:5844 myocardial infarction treatment ISO RGD:69101 D RGD:9068941 20200609 RGD PMID:12500159|REF_RGD_ID:11352745 11838320 LOC100971425 somatotropin gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:69101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1611713|PMID:2042694 11838320 LOC100971425 somatotropin gene DOID:630 genetic disease ISO RGD:69101 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11838320 LOC100971425 somatotropin gene DOID:767 muscular atrophy ISO RGD:69101 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8937196 11838320 LOC100971425 somatotropin gene DOID:8398 osteoarthritis ISO RGD:69101 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:7152485|REF_RGD_ID:10003140 11838320 LOC100971425 somatotropin gene DOID:8432 polycythemia ISO RGD:69101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15161484 11838320 LOC100971425 somatotropin gene DOID:8947 diabetic retinopathy ISO RGD:69101 D RGD:9068941 20200609 RGD PMID:3183302|REF_RGD_ID:2315688 11838320 LOC100971425 somatotropin gene DOID:9000445 Azotemia ISO RGD:69101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14728886 11838320 LOC100971425 somatotropin gene DOID:9001240 Peripheral Nerve Injuries treatment ISO RGD:69101 D RGD:9068941 20200609 RGD PMID:21945950|REF_RGD_ID:10003150 11838320 LOC100971425 somatotropin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69101 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15334695 11838320 LOC100971425 somatotropin gene DOID:9001981 Weight Loss ISO RGD:69101 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7711889 11838320 LOC100971425 somatotropin gene DOID:9002234 Pituitary Neoplasms ISO RGD:69101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19420816 11838320 LOC100971425 somatotropin gene DOID:9002513 Hypoproteinemia treatment ISO RGD:69101 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis PMID:11986720|REF_RGD_ID:11352738 11838320 LOC100971425 somatotropin gene DOID:9003177 Kowarski Syndrome ISO RGD:69101 D RGD:7240710 20180130 OMIM 11838320 LOC100971425 somatotropin gene DOID:9003177 Kowarski Syndrome ISO RGD:69101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin PMID:10372722|PMID:10445339|PMID:12655557|PMID:15001589|PMID:15713716|PMID:17519310|PMID:18160466|PMID:18950677|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8530604|PMID:8552145|PMID:9152628|PMID:9276733 11838320 LOC100971425 somatotropin gene DOID:9004009 Reperfusion Injury treatment ISO RGD:69101 D RGD:9068941 20200609 RGD PMID:21439711|REF_RGD_ID:10003153 11838320 LOC100971425 somatotropin gene DOID:9004091 Osteophytes ISO RGD:2686 D RGD:9068941 20200609 RGD associated with Acromegaly PMID:10499542|REF_RGD_ID:10003127 11838320 LOC100971425 somatotropin gene DOID:9004657 Weight Gain ISO RGD:10643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17372281 11838320 LOC100971425 somatotropin gene DOID:9004657 Weight Gain ISO RGD:69101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17372281 11838320 LOC100971425 somatotropin gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:10643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15528971 11838320 LOC100971425 somatotropin gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2686 D RGD:9068941 20200609 RGD PMID:17584969|REF_RGD_ID:2315650 11838320 LOC100971425 somatotropin gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12082019|PMID:17584969 11838320 LOC100971425 somatotropin gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:2686 D RGD:9068941 20200609 RGD PMID:6139974|REF_RGD_ID:11352806 11838320 LOC100971425 somatotropin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2686 D RGD:9068941 20200609 RGD PMID:2931155|REF_RGD_ID:2315682 11838320 LOC100971425 somatotropin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2686 D RGD:9068941 20200609 RGD protein:decreased expression:serum, pituitary gland PMID:19370419|REF_RGD_ID:2315655 11838320 LOC100971425 somatotropin gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:69101 D RGD:9068941 20200609 RGD associated with Aortic Valve Stenosis PMID:20060348|REF_RGD_ID:9686081 11838320 LOC100971425 somatotropin gene DOID:9006257 Growth Disorders ISO RGD:69101 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15151564 11838320 LOC100971425 somatotropin gene DOID:9006257 Growth Disorders treatment ISO RGD:69101 D RGD:9068941 20200609 RGD associated with Beta-Thalassemia PMID:10618886|REF_RGD_ID:11352731 11838320 LOC100971425 somatotropin gene DOID:9007181 Osteoporotic Fractures treatment ISO RGD:69101 D RGD:9068941 20200609 RGD PMID:11834155|REF_RGD_ID:10003137 11838320 LOC100971425 somatotropin gene DOID:9007271 Hypoalbuminemia treatment ISO RGD:69101 D RGD:9068941 20200609 RGD associated with Sepsis PMID:10923500|REF_RGD_ID:11352734 11838320 LOC100971425 somatotropin gene DOID:9007661 Dwarfism ISO RGD:2686 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:pituitary gland, blood: PMID:8670892|REF_RGD_ID:12905039 11838320 LOC100971425 somatotropin gene DOID:9007661 Dwarfism ISO RGD:2686 D RGD:9068941 20201211 RGD PMID:2152867|PMID:2752987|REF_RGD_ID:1578505|REF_RGD_ID:1578506 11838320 LOC100971425 somatotropin gene DOID:9007661 Dwarfism ISO RGD:69101 D RGD:9068941 20200609 RGD PMID:8670892|REF_RGD_ID:12905039 11838320 LOC100971425 somatotropin gene DOID:9007661 Dwarfism ISO RGD:69101 D RGD:9068941 20200609 RGD DNA:mutations:promoter:c.-223C>T( rs41295015), c.-185T>C(rs71651677)(human) PMID:27252485|REF_RGD_ID:12904666 11838320 LOC100971425 somatotropin gene DOID:9007692 Insulin Resistance ISO RGD:69101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21559284 11838320 LOC100971425 somatotropin gene DOID:9351 diabetes mellitus ISO RGD:69101 D RGD:9068941 20200609 RGD protein:decreased expression:vitreous body PMID:19463895|REF_RGD_ID:2315653 11838320 LOC100971425 somatotropin gene DOID:9351 diabetes mellitus ISO RGD:69101 D RGD:9068941 20200609 RGD protein:increased secretion:plasma PMID:1132599|REF_RGD_ID:2315658 11838320 LOC100971425 somatotropin gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:2686 D RGD:9068941 20200609 RGD PMID:26379831|REF_RGD_ID:11352744 11838320 LOC100971425 somatotropin gene DOID:9409 diabetes insipidus ISO RGD:69101 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:6777392|REF_RGD_ID:2315659 11838320 LOC100971425 somatotropin gene DOID:9744 type 1 diabetes mellitus ISO RGD:2686 D RGD:9068941 20200609 RGD PMID:2888037|REF_RGD_ID:2315685 11838320 LOC100971425 somatotropin gene DOID:9744 type 1 diabetes mellitus ISO RGD:69101 D RGD:9068941 20200609 RGD PMID:3097114|REF_RGD_ID:2315684 11838320 LOC100971425 somatotropin gene DOID:9744 type 1 diabetes mellitus ISO RGD:69101 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:7298798|REF_RGD_ID:2315674 11838320 LOC100971425 somatotropin gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:69101 D RGD:9068941 20200609 RGD PMID:2494952|REF_RGD_ID:11352727 11838320 LOC100971425 somatotropin gene DOID:9970 obesity ISO RGD:69101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8923850 11838337 FAM114A1 family with sequence similarity 114 member A1 gene DOID:630 genetic disease ISO RGD:1606191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838337 FAM114A1 family with sequence similarity 114 member A1 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1606191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 11838356 TLE2 TLE family member 2, transcriptional corepressor gene DOID:1227 neutropenia ISO RGD:1315408 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 11838356 TLE2 TLE family member 2, transcriptional corepressor gene DOID:630 genetic disease ISO RGD:1315408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838356 TLE2 TLE family member 2, transcriptional corepressor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11838378 DGAT2L6 diacylglycerol O-acyltransferase 2 like 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11838378 DGAT2L6 diacylglycerol O-acyltransferase 2 like 6 gene DOID:10283 prostate cancer ISO RGD:1602812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11838378 DGAT2L6 diacylglycerol O-acyltransferase 2 like 6 gene DOID:12849 autistic disorder ISO RGD:1602812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11838378 DGAT2L6 diacylglycerol O-acyltransferase 2 like 6 gene DOID:630 genetic disease ISO RGD:1602812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838398 SPMIP2 sperm associated microtubule inner protein 2 gene DOID:630 genetic disease ISO RGD:1602179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838407 CLEC4F C-type lectin domain family 4 member F gene DOID:543 dystonia ISO RGD:1354444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11838407 CLEC4F C-type lectin domain family 4 member F gene DOID:630 genetic disease ISO RGD:1354444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838407 CLEC4F C-type lectin domain family 4 member F gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1354444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11838407 CLEC4F C-type lectin domain family 4 member F gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1354444 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11838416 GPR15 G protein-coupled receptor 15 gene DOID:630 genetic disease ISO RGD:1315368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838421 FAM174A family with sequence similarity 174 member A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601696 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11838421 FAM174A family with sequence similarity 174 member A gene DOID:630 genetic disease ISO RGD:1601696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838421 FAM174A family with sequence similarity 174 member A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11838421 FAM174A family with sequence similarity 174 member A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 11838421 FAM174A family with sequence similarity 174 member A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601696 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11838431 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:68519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11838431 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:0060207 amyotrophic lateral sclerosis type 16 ISO RGD:68519 D RGD:7240710 20180130 OMIM 11838431 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:0060207 amyotrophic lateral sclerosis type 16 ISO RGD:68519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 16 PMID:21842496|PMID:24088041|PMID:25175561|PMID:25704016|PMID:25741868|PMID:26078401|PMID:26205306|PMID:26633545|PMID:27042935|PMID:27402882|PMID:27629094|PMID:27821430|PMID:28492532|PMID:28622300|PMID:28708278|PMID:29115704|PMID:30079398|PMID:31511340|PMID:31696229|PMID:32055286|PMID:32579787|PMID:33020464|PMID:33618928 11838431 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:68519 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11838431 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:68519 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11838431 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:68519 D RGD:7240710 20180130 OMIM 11838431 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:68519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:16199547|PMID:21031579|PMID:21842496|PMID:24088041|PMID:25175561|PMID:25261976|PMID:25704016|PMID:25741868|PMID:26078401|PMID:26205306|PMID:26366463|PMID:26467025|PMID:26633545|PMID:27042935|PMID:27402882|PMID:27629094|PMID:27821430|PMID:28160950|PMID:28492532|PMID:28622300|PMID:28708278|PMID:29115704|PMID:29411640|PMID:30079398|PMID:30266269|PMID:30311446|PMID:31324122|PMID:31511340|PMID:31696229|PMID:32055286|PMID:32579787|PMID:33020464|PMID:33369814|PMID:33618928 11838431 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:68519 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11838431 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:10914 amnestic disorder ISO RGD:68519 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12028363 11838431 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:68519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24885036 11838431 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:68519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16204638 11838431 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:630 genetic disease ISO RGD:68519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21842496|PMID:25175561|PMID:25704016|PMID:26078401|PMID:26467025|PMID:27042935|PMID:27402882|PMID:27821430|PMID:28492532|PMID:28622300|PMID:28708278|PMID:29115704|PMID:31696229|PMID:32055286|PMID:33020464|PMID:33369814 11838431 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:8927 learning disability ISO RGD:68519 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15451042 11838431 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:68519 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15451042 11838431 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:68519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24885036 11838431 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:68519 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30661753 11838431 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:68519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11838431 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:68519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12736327|PMID:16132061 11838431 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:9008023 Memory Disorders ISO RGD:68519 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15451042 11838431 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:68519 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11838431 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:9870 galactosemia ISO RGD:68519 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11838442 RFC5 replication factor C subunit 5 gene DOID:630 genetic disease ISO RGD:1319540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838458 ATP5PB ATP synthase peripheral stalk-membrane subunit b gene DOID:0080600 COVID-19 ISO RGD:736319 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11838458 ATP5PB ATP synthase peripheral stalk-membrane subunit b gene DOID:4467 clear cell renal cell carcinoma ISO RGD:736319 D RGD:9068941 20200609 RGD PMID:28672194|REF_RGD_ID:14696810 11838458 ATP5PB ATP synthase peripheral stalk-membrane subunit b gene DOID:630 genetic disease ISO RGD:736319 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838458 ATP5PB ATP synthase peripheral stalk-membrane subunit b gene DOID:684 hepatocellular carcinoma ISO RGD:736319 D RGD:9068941 20200609 RGD associated with hepatitis C PMID:18932288|REF_RGD_ID:14696822 11838469 UPRT uracil phosphoribosyltransferase homolog gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11838469 UPRT uracil phosphoribosyltransferase homolog gene DOID:12849 autistic disorder ISO RGD:1605870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11838469 UPRT uracil phosphoribosyltransferase homolog gene DOID:630 genetic disease ISO RGD:1605870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838469 UPRT uracil phosphoribosyltransferase homolog gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1564806 D RGD:9068941 20200609 RGD protein:decreased activity:mammary gland (rat) PMID:1476792|REF_RGD_ID:5132591 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:0050902 medulloblastoma ISO RGD:730916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:0050902 medulloblastoma severity ISO RGD:730916 D RGD:9068941 20200609 RGD PMID:25576913|REF_RGD_ID:13702904 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:730916 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:0080016 spina bifida ISO RGD:730916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11023856 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:0080630 B-lymphoblastic leukemia/lymphoma treatment ISO RGD:11069 D RGD:9068941 20200609 RGD PMID:22447844|REF_RGD_ID:11075097 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:0110213 isolated cleft palate ISO RGD:730916 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Isolated cleft palate PMID:22473090|PMID:24728327|PMID:25741868|PMID:27153395|PMID:28492532 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:10763 hypertension ISO RGD:3284 D RGD:9068941 20200609 RGD PMID:1657776|REF_RGD_ID:11080972 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:11446 sciatic neuropathy ISO RGD:3284 D RGD:9068941 20200609 RGD PMID:19909480|REF_RGD_ID:11080976 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:12215 oligohydramnios ISO RGD:3284 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17519529|REF_RGD_ID:2292203 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:1240 leukemia ISO RGD:730916 D RGD:9068941 20200609 RGD DNA:fusion protein, missense mutation: :p.H650Q, p.R748G (human) PMID:21224473|REF_RGD_ID:11075100 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:1520 colon carcinoma ISO RGD:730916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:24033266|PMID:25741868|PMID:28492532 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:1793 pancreatic cancer ISO RGD:730916 D RGD:9068941 20200609 RGD PMID:14695158|REF_RGD_ID:2324850 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:1793 pancreatic cancer ISO RGD:730916 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:7665222|REF_RGD_ID:2324851 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:1909 melanoma ISO RGD:730916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:24132921|PMID:28492532 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:2226 myeloproliferative neoplasm ISO RGD:730916 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable PMID:22703879|PMID:22718859|PMID:24728327|PMID:25741868|PMID:28492532|PMID:35101336 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:2394 ovarian cancer ISO RGD:730916 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:22473090|PMID:24728327|PMID:25336117|PMID:25741868|PMID:27153395|PMID:28492532|PMID:30093976|PMID:30359545 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:2526 prostate adenocarcinoma ISO RGD:730916 D RGD:9068941 20200609 RGD protein:increased expression:prostate PMID:7524068|REF_RGD_ID:2292156 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:2696 Leydig cell tumor ISO RGD:730916 D RGD:9068941 20200609 RGD mRNA:alternative form:testis PMID:11920744|REF_RGD_ID:2298580 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:2696 Leydig cell tumor ISO RGD:730916 D RGD:9068941 20200609 RGD protein:increased expression:testis, leydig cell PMID:11994382|REF_RGD_ID:2298579 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:3459 breast carcinoma disease_progression ISO RGD:730916 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:16741576|REF_RGD_ID:2292178 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3284 D RGD:9068941 20200609 RGD PMID:16917016|REF_RGD_ID:11084934 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:3770 pulmonary fibrosis ISO RGD:3284 D RGD:9068941 20200609 RGD PMID:9458803|REF_RGD_ID:11080970 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:3827 congenital diaphragmatic hernia ISO RGD:11069 D RGD:9068941 20220825 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:3840 craniopharyngioma disease_progression ISO RGD:730916 D RGD:9068941 20200609 RGD PMID:20190664|REF_RGD_ID:11080971 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:3907 lung squamous cell carcinoma ISO RGD:730916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:24033266|PMID:25741868|PMID:28492532 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:4202 brain stem glioma severity ISO RGD:730916 D RGD:9068941 20200609 RGD PMID:20197468|REF_RGD_ID:13702892 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:4440 seminoma ISO RGD:730916 D RGD:9068941 20200609 RGD mRNA:splice variant:testis PMID:8610136|REF_RGD_ID:2292154 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:730916 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:12866380|REF_RGD_ID:2292157 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:4545 mesenchymal chondrosarcoma ISO RGD:730916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12817616 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:730916 D RGD:9068941 20200609 RGD PMID:24486648|REF_RGD_ID:11075087 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:6000 congestive heart failure ISO RGD:730916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28347583 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:630 genetic disease ISO RGD:730916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:674 cleft palate ISO RGD:730916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18264099 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:850 lung disease ISO RGD:730916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20920717 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:8549 chronic ulcer of skin ISO RGD:3284 D RGD:9068941 20200609 RGD PMID:16383039|REF_RGD_ID:2292163 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:8683 myeloid sarcoma treatment ISO RGD:730916 D RGD:9068941 20200609 RGD PMID:22348015|REF_RGD_ID:11075098 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:8692 myeloid leukemia ISO RGD:730916 D RGD:9068941 20200609 RGD PMID:24486648|REF_RGD_ID:11075087 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:8719 in situ carcinoma ISO RGD:730916 D RGD:9068941 20200609 RGD mRNA:splice variant:testis PMID:8610136|REF_RGD_ID:2292154 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:9000099 Experimental Colitis treatment ISO RGD:3284 D RGD:9068941 20200609 RGD PMID:24115822|REF_RGD_ID:11080973 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:730916 D RGD:9068941 20200609 RGD mRNA:alternative form:testis PMID:11920744|REF_RGD_ID:2298580 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:730916 D RGD:9068941 20200609 RGD mRNA:splice variant:testis PMID:8610136|REF_RGD_ID:2292154 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:9000998 Brain Injuries ISO RGD:3284 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex, hippocampus PMID:9645955|REF_RGD_ID:11084932 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:9001371 Eosinophilia ISO RGD:730916 D RGD:9068941 20200609 RGD DNA:gene fusion PMID:23114151|REF_RGD_ID:11075088 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:9001371 Eosinophilia ISO RGD:730916 D RGD:9068941 20200609 RGD DNA:translocation: (human) PMID:15284118|REF_RGD_ID:1580848 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3284 D RGD:9068941 20200609 RGD PMID:17382907|REF_RGD_ID:11080969 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:9001916 Fetal Death ISO RGD:730916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11023856 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:9001997 Pdgfra-Associated Chronic Eosinophilic Leukemia ISO RGD:730916 D RGD:9068941 20200609 RGD DNA:gene fusion PMID:22806436|REF_RGD_ID:11075089 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:3284 D RGD:9068941 20200609 RGD PMID:11889420|REF_RGD_ID:11080974 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:9002514 Neointima treatment ISO RGD:3284 D RGD:9068941 20200609 RGD associated with Carotid Artery Injuries PMID:9323080|REF_RGD_ID:11087557 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:9002762 Ovarian Neoplasms ISO RGD:730916 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:15791568|REF_RGD_ID:2298578 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:730916 D RGD:9068941 20200609 RGD protein:increased expression:ovary, epithelial cell PMID:8402626|REF_RGD_ID:2292199 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:3284 D RGD:9068941 20200609 RGD PMID:16042218|REF_RGD_ID:11080975 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:9004265 Endometrioid Carcinomas ISO RGD:730916 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:15791568|REF_RGD_ID:2298578 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:9004268 Uterine Neoplasms ISO RGD:730916 D RGD:9068941 20200609 RGD PMID:17049587|REF_RGD_ID:2292177 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:3284 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:10550325|REF_RGD_ID:8554477 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:730916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17568391|PMID:17576681|PMID:20071345|PMID:20169295|PMID:22473090|PMID:22703879|PMID:22718859|PMID:23752188|PMID:24033266|PMID:24728327|PMID:25336117|PMID:25741868|PMID:26580448|PMID:26928227|PMID:27153395|PMID:28492532|PMID:28592523|PMID:29978744|PMID:30359545|PMID:30389923|PMID:9536098 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:730916 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17568391|PMID:17576681|PMID:20071345|PMID:20169295|PMID:22473090|PMID:22703879|PMID:22718859|PMID:23752188|PMID:24033266|PMID:24728327|PMID:24969172|PMID:25336117|PMID:25741868|PMID:26580448|PMID:26928227|PMID:27153395|PMID:28492532|PMID:28592523|PMID:28873162|PMID:29978744|PMID:30359545|PMID:30389923|PMID:30761385|PMID:31173267|PMID:33332384|PMID:35101336|PMID:9536098 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:9007096 Stroke ISO RGD:3284 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex PMID:15342968|REF_RGD_ID:2292165 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:9007480 Hyperoxia ISO RGD:3284 D RGD:9068941 20200609 RGD protein:increased expression:vascular associated smooth muscle cell PMID:15722379|REF_RGD_ID:1580851 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:9007870 Respiratory System Abnormalities ISO RGD:730916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11023856 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:9008257 Multiple Polyps and Recurrent Inflammatory Fibroid, Gastrointestinal ISO RGD:730916 D RGD:7240710 20200304 OMIM 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:9008257 Multiple Polyps and Recurrent Inflammatory Fibroid, Gastrointestinal ISO RGD:730916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal PMID:12522257|PMID:14645423|PMID:14699510|PMID:15928335|PMID:16954519|PMID:17087936|PMID:17087943|PMID:17566086|PMID:20071345|PMID:22473090|PMID:22703879|PMID:22745105|PMID:24728327|PMID:25157968|PMID:25741868|PMID:26928227|PMID:28492532|PMID:28873162|PMID:29486293|PMID:3152525|PMID:3152526|PMID:33332384 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:9008731 Craniofacial Abnormalities ISO RGD:730916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11023856 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:12522257|PMID:12949711|PMID:14645423|PMID:14699510|PMID:15146165|PMID:15685537|PMID:15928335|PMID:16199547|PMID:16638875|PMID:16954519|PMID:17087936|PMID:17087943|PMID:17566086|PMID:17568391|PMID:17576681|PMID:18794084|PMID:20071345|PMID:20169295|PMID:22473090|PMID:22703879|PMID:22718859|PMID:22745105|PMID:23752188|PMID:24033266|PMID:24728327|PMID:24969172|PMID:25107291|PMID:25157968|PMID:25336117|PMID:25741868|PMID:26130666|PMID:26580448|PMID:26928227|PMID:27153395|PMID:27701467|PMID:28166811|PMID:28492532|PMID:28592523|PMID:29978744|PMID:30093976|PMID:30359545|PMID:30389923|PMID:3152525|PMID:3152526|PMID:9536098 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730916 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, familial PMID:12522257|PMID:12949711|PMID:14645423|PMID:14699510|PMID:15146165|PMID:15685537|PMID:15928335|PMID:16199547|PMID:16638875|PMID:16954519|PMID:17087936|PMID:17087943|PMID:17566086|PMID:17568391|PMID:17576681|PMID:18794084|PMID:20071345|PMID:20169295|PMID:22473090|PMID:22703879|PMID:22718859|PMID:22745105|PMID:23752188|PMID:24033266|PMID:24728327|PMID:24969172|PMID:25107291|PMID:25157968|PMID:25336117|PMID:25741868|PMID:26130666|PMID:26580448|PMID:26928227|PMID:27153395|PMID:27701467|PMID:28492532|PMID:28592523|PMID:28873162|PMID:29978744|PMID:30093976|PMID:30359545|PMID:30389923|PMID:30761385|PMID:3152525|PMID:3152526|PMID:33332384|PMID:9536098 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730916 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:12522257|PMID:12949711|PMID:14645423|PMID:14699510|PMID:15146165|PMID:15685537|PMID:15928335|PMID:16199547|PMID:16638875|PMID:16954519|PMID:17087936|PMID:17087943|PMID:17566086|PMID:17568391|PMID:17576681|PMID:18794084|PMID:20071345|PMID:20169295|PMID:22473090|PMID:22703879|PMID:22718859|PMID:22745105|PMID:23752188|PMID:24033266|PMID:24728327|PMID:24969172|PMID:25107291|PMID:25157968|PMID:25336117|PMID:25741868|PMID:26130666|PMID:26580448|PMID:26928227|PMID:27153395|PMID:27701467|PMID:28492532|PMID:28592523|PMID:28873162|PMID:29978744|PMID:30093976|PMID:30359545|PMID:30389923|PMID:30761385|PMID:3152525|PMID:3152526|PMID:33332384|PMID:35101336|PMID:9536098 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730916 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:12522257|PMID:12949711|PMID:14645423|PMID:14699510|PMID:15146165|PMID:15685537|PMID:15928335|PMID:16199547|PMID:16638875|PMID:16954519|PMID:17087936|PMID:17087943|PMID:17566086|PMID:17568391|PMID:17576681|PMID:18794084|PMID:20071345|PMID:20169295|PMID:22473090|PMID:22703879|PMID:22718859|PMID:22745105|PMID:23752188|PMID:24033266|PMID:24728327|PMID:24969172|PMID:25107291|PMID:25157968|PMID:25336117|PMID:25741868|PMID:26130666|PMID:26580448|PMID:26928227|PMID:27153395|PMID:27701467|PMID:28492532|PMID:28592523|PMID:28873162|PMID:29978744|PMID:30093976|PMID:30359545|PMID:30389923|PMID:30761385|PMID:31173267|PMID:3152525|PMID:3152526|PMID:33332384|PMID:35101336|PMID:9536098 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:12522257|PMID:12949711|PMID:14645423|PMID:14699510|PMID:15146165|PMID:15685537|PMID:15928335|PMID:16199547|PMID:16638875|PMID:16954519|PMID:17087936|PMID:17087943|PMID:17566086|PMID:17568391|PMID:17576681|PMID:18794084|PMID:20071345|PMID:20169295|PMID:22473090|PMID:22703879|PMID:22718859|PMID:22745105|PMID:23752188|PMID:24033266|PMID:24132921|PMID:24728327|PMID:24969172|PMID:25107291|PMID:25157968|PMID:25336117|PMID:25741868|PMID:26130666|PMID:26580448|PMID:26928227|PMID:27153395|PMID:27701467|PMID:28492532|PMID:28592523|PMID:28873162|PMID:29978744|PMID:30093976|PMID:30359545|PMID:30389923|PMID:30761385|PMID:30833958|PMID:31173267|PMID:3152525|PMID:3152526|PMID:33332384|PMID:35101336|PMID:9536098 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730916 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:12522257|PMID:12949711|PMID:14645423|PMID:14699510|PMID:15146165|PMID:15685537|PMID:15928335|PMID:16199547|PMID:16638875|PMID:16954519|PMID:17087936|PMID:17087943|PMID:17566086|PMID:17568391|PMID:17576681|PMID:18794084|PMID:20071345|PMID:20169295|PMID:22473090|PMID:22703879|PMID:22718859|PMID:22745105|PMID:23752188|PMID:24033266|PMID:24132921|PMID:24728327|PMID:24969172|PMID:25107291|PMID:25157968|PMID:25336117|PMID:25640679|PMID:25741868|PMID:26130666|PMID:26580448|PMID:26928227|PMID:27153395|PMID:27701467|PMID:28492532|PMID:28592523|PMID:28873162|PMID:29978744|PMID:30093976|PMID:30359545|PMID:30389923|PMID:30761385|PMID:30833958|PMID:31173267|PMID:3152525|PMID:3152526|PMID:33332384|PMID:35101336|PMID:9536098 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:999 hypereosinophilic syndrome ISO RGD:730916 D RGD:7240710 20180130 OMIM 11838483 PDGFRA platelet derived growth factor receptor alpha gene DOID:999 hypereosinophilic syndrome ISO RGD:730916 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypereosinophilic syndrome, idiopathic, resistant to imatinib | ClinVar Annotator: match by term: Idiopathic hypereosinophilic syndrome PMID:12660384|PMID:17576681|PMID:20071345|PMID:20169295|PMID:22703879|PMID:22718859|PMID:24033266|PMID:24728327|PMID:25336117|PMID:25741868|PMID:26928227|PMID:28492532|PMID:28873162|PMID:30093976|PMID:30359545|PMID:30389923|PMID:33332384|PMID:35101336|PMID:9536098 11838521 SCEL sciellin gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1312935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11838521 SCEL sciellin gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1312935 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10528251|PMID:20127975|PMID:20157158|PMID:22589734|PMID:28492532|PMID:30394532|PMID:31406620|PMID:32393339|PMID:8001159 11838521 SCEL sciellin gene DOID:630 genetic disease ISO RGD:1312935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838582 MTG2 mitochondrial ribosome associated GTPase 2 gene DOID:630 genetic disease ISO RGD:1344224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838598 RALBP1 ralA binding protein 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:737281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11838598 RALBP1 ralA binding protein 1 gene DOID:1059 intellectual disability ISO RGD:737281 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11838598 RALBP1 ralA binding protein 1 gene DOID:10629 microphthalmia ISO RGD:732627 D RGD:9068941 20220825 MouseDO OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972 11838598 RALBP1 ralA binding protein 1 gene DOID:10763 hypertension ISO RGD:737281 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23821548 11838598 RALBP1 ralA binding protein 1 gene DOID:11054 urinary bladder cancer ISO RGD:737281 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:urinary bladder PMID:17606711|REF_RGD_ID:2324917 11838598 RALBP1 ralA binding protein 1 gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:737281 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:22509328|REF_RGD_ID:13792559 11838598 RALBP1 ralA binding protein 1 gene DOID:543 dystonia ISO RGD:737281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 11838598 RALBP1 ralA binding protein 1 gene DOID:630 genetic disease ISO RGD:737281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838598 RALBP1 ralA binding protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737281 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11838598 RALBP1 ralA binding protein 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:737281 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11838615 PLEKHB2 pleckstrin homology domain containing B2 gene DOID:5419 schizophrenia ISO RGD:1322147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11838615 PLEKHB2 pleckstrin homology domain containing B2 gene DOID:630 genetic disease ISO RGD:1322147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838647 UBE2Q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1313256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11838647 UBE2Q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:0060257 dyschromatosis symmetrica hereditaria ISO RGD:1313256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities PMID:22974014|PMID:28492532 11838647 UBE2Q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1313256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11838647 UBE2Q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1313256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11838647 UBE2Q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1313256 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 11838647 UBE2Q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:1540 parathyroid carcinoma ISO RGD:1313256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11838647 UBE2Q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:5812 MHC class II deficiency ISO RGD:1313256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11838647 UBE2Q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:630 genetic disease ISO RGD:1313256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838647 UBE2Q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11838665 MUC3A mucin 3A, cell surface associated gene DOID:1324 lung cancer ISO RGD:736898 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 11838665 MUC3A mucin 3A, cell surface associated gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:736898 D RGD:9068941 20200611 RGD mRNA:increased expression:pancreas PMID:12657964|REF_RGD_ID:2324946 11838665 MUC3A mucin 3A, cell surface associated gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11838665 MUC3A mucin 3A, cell surface associated gene DOID:4947 cholangiocarcinoma ISO RGD:736898 D RGD:9068941 20200611 RGD mRNA:decreased expression:bile duct PMID:11680592|REF_RGD_ID:2324948 11838665 MUC3A mucin 3A, cell surface associated gene DOID:5409 lung small cell carcinoma ISO RGD:736898 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 11838677 TMEM35A transmembrane protein 35A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11838677 TMEM35A transmembrane protein 35A gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1345227 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 11838677 TMEM35A transmembrane protein 35A gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1345227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 11838677 TMEM35A transmembrane protein 35A gene DOID:12849 autistic disorder ISO RGD:1345227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11838677 TMEM35A transmembrane protein 35A gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1345227 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 11838683 LOC100990879 keratin-associated protein 12-1 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1343627 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 11838683 LOC100990879 keratin-associated protein 12-1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1343627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11838683 LOC100990879 keratin-associated protein 12-1 gene DOID:0110266 cataract 9 multiple types ISO RGD:1343627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11838683 LOC100990879 keratin-associated protein 12-1 gene DOID:12849 autistic disorder ISO RGD:1343627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11838683 LOC100990879 keratin-associated protein 12-1 gene DOID:630 genetic disease ISO RGD:1343627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838683 LOC100990879 keratin-associated protein 12-1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1343627 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11838683 LOC100990879 keratin-associated protein 12-1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11838683 LOC100990879 keratin-associated protein 12-1 gene DOID:9263 homocystinuria ISO RGD:1343627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11838683 LOC100990879 keratin-associated protein 12-1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11838692 TBX10 T-box transcription factor 10 gene DOID:1059 intellectual disability ISO RGD:1342498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11838692 TBX10 T-box transcription factor 10 gene DOID:630 genetic disease ISO RGD:1342498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838692 TBX10 T-box transcription factor 10 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1342498 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11838692 TBX10 T-box transcription factor 10 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1342498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11838704 KLHDC4 kelch domain containing 4 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1322601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 11838704 KLHDC4 kelch domain containing 4 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1322601 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11838704 KLHDC4 kelch domain containing 4 gene DOID:630 genetic disease ISO RGD:1322601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838704 KLHDC4 kelch domain containing 4 gene DOID:9002957 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO ISO RGD:1322601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to PMID:24530203|PMID:26913920|PMID:28492532 11838704 KLHDC4 kelch domain containing 4 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1322601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 11838730 CHRNA2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:735907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy PMID:16199547|PMID:17576681|PMID:18414213|PMID:21703448|PMID:24950454|PMID:25741868|PMID:25847220|PMID:26467025|PMID:28166811|PMID:28492532|PMID:28600779|PMID:29930392|PMID:9536098 11838730 CHRNA2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:0060685 autosomal dominant nocturnal frontal lobe epilepsy 4 ISO RGD:735907 D RGD:7240710 20180130 OMIM 11838730 CHRNA2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:0060685 autosomal dominant nocturnal frontal lobe epilepsy 4 ISO RGD:735907 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 4 PMID:16222669|PMID:16826524|PMID:17576681|PMID:18414213|PMID:21703448|PMID:24950454|PMID:25741868|PMID:25770198|PMID:26467025|PMID:28492532|PMID:9536098 11838730 CHRNA2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:735907 D RGD:7240710 20220727 OMIM 11838730 CHRNA2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:735907 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:16199547|PMID:17576681|PMID:18414213|PMID:21703448|PMID:24950454|PMID:25741868|PMID:25847220|PMID:26467025|PMID:28166811|PMID:28492532|PMID:9536098 11838730 CHRNA2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:735907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Seizures, benign familial infantile, 6 PMID:16199547|PMID:17576681|PMID:18414213|PMID:21703448|PMID:24950454|PMID:25741868|PMID:25847220|PMID:26467025|PMID:28166811|PMID:28492532|PMID:28600779|PMID:29930392|PMID:9536098 11838730 CHRNA2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:1059 intellectual disability ISO RGD:735907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11838730 CHRNA2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:1826 epilepsy ISO RGD:735907 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:24950454|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28492532 11838730 CHRNA2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:1826 epilepsy ISO RGD:735907 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11838730 CHRNA2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:630 genetic disease ISO RGD:735907 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:21703448|PMID:24950454|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29930392|PMID:9536098 11838730 CHRNA2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:9005154 Myoclonic Epilepsies ISO RGD:735907 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: myoclonic epilepsy PMID:28492532 11838730 CHRNA2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:9005172 Lung Neoplasms ISO RGD:735907 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28604730 11838743 SRSF4 serine and arginine rich splicing factor 4 gene DOID:14250 Down syndrome ISO RGD:1350526 D RGD:9068941 20200609 RGD protein:increased expression:amniotic fluid (human) PMID:16847874|REF_RGD_ID:11039402 11838743 SRSF4 serine and arginine rich splicing factor 4 gene DOID:234 colon adenocarcinoma ISO RGD:1350526 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon mucosa (human) PMID:9865741|REF_RGD_ID:11039405 11838743 SRSF4 serine and arginine rich splicing factor 4 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1350526 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney (human) PMID:21082031|REF_RGD_ID:11039407 11838743 SRSF4 serine and arginine rich splicing factor 4 gene DOID:630 genetic disease ISO RGD:1350526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838743 SRSF4 serine and arginine rich splicing factor 4 gene DOID:9119 acute myeloid leukemia ISO RGD:1350526 D RGD:9068941 20200609 RGD mRNA:decreased expression: (human) PMID:22722453|REF_RGD_ID:11039059 11838763 CUZD1 CUB and zona pellucida like domains 1 gene DOID:2340 craniosynostosis ISO RGD:1353922 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 11838763 CUZD1 CUB and zona pellucida like domains 1 gene DOID:630 genetic disease ISO RGD:1353922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838778 PPIE peptidylprolyl isomerase E gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1322860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11838778 PPIE peptidylprolyl isomerase E gene DOID:630 genetic disease ISO RGD:1322860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838813 LOC103785886 histone H2A type 2-C gene DOID:1540 parathyroid carcinoma ISO RGD:1353344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11838813 LOC103785886 histone H2A type 2-C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11838839 BICD1 BICD cargo adaptor 1 gene DOID:630 genetic disease ISO RGD:1319790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838873 ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif 4 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1346398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11838873 ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1346398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11838873 ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif 4 gene DOID:224 transient cerebral ischemia ISO RGD:621242 D RGD:9068941 20200609 RGD PMID:16630594|REF_RGD_ID:9681747 11838873 ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif 4 gene DOID:630 genetic disease ISO RGD:1346398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838873 ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1346398 D RGD:9068941 20200609 RGD mRNA:increased expression:synovium PMID:11801682|REF_RGD_ID:10043106 11838873 ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif 4 gene DOID:8398 osteoarthritis treatment ISO RGD:1550099 D RGD:9068941 20200609 RGD associated with Bone Diseases, Metabolic PMID:22432033|REF_RGD_ID:10043110 11838873 ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif 4 gene DOID:90 degenerative disc disease ISO RGD:621242 D RGD:9068941 20200609 RGD PMID:22394620|REF_RGD_ID:10043115 11838873 ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11838886 RPS12 ribosomal protein S12 gene DOID:630 genetic disease ISO RGD:735309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838886 RPS12 ribosomal protein S12 gene DOID:9006599 Hypertriglyceridemia ISO RGD:62024 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X;mRNA:increased expression:liver PMID:25294893|REF_RGD_ID:11039460 11838896 GIT2 GIT ArfGAP 2 gene DOID:630 genetic disease ISO RGD:1345420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838942 NEK9 NIMA related kinase 9 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1316228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome PMID:25741868 11838942 NEK9 NIMA related kinase 9 gene DOID:10283 prostate cancer ISO RGD:1316228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11838942 NEK9 NIMA related kinase 9 gene DOID:1059 intellectual disability ISO RGD:1316228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11838942 NEK9 NIMA related kinase 9 gene DOID:630 genetic disease ISO RGD:1316228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:31131953 11838942 NEK9 NIMA related kinase 9 gene DOID:674 cleft palate ISO RGD:1316228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate 11838942 NEK9 NIMA related kinase 9 gene DOID:9003288 Lethal Congenital Contracture Syndrome 10 ISO RGD:1316228 D RGD:7240710 20190315 OMIM 11838942 NEK9 NIMA related kinase 9 gene DOID:9003288 Lethal Congenital Contracture Syndrome 10 ISO RGD:1316228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 10 PMID:25741868|PMID:26908619 11838942 NEK9 NIMA related kinase 9 gene DOID:9008794 ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY ISO RGD:1316228 D RGD:7240710 20190315 OMIM 11838942 NEK9 NIMA related kinase 9 gene DOID:9008794 ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY ISO RGD:1316228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, Perthes disease, and upward gaze palsy PMID:25741868|PMID:26633546|PMID:28492532 11838942 NEK9 NIMA related kinase 9 gene DOID:9009038 Nevus Comedonicus ISO RGD:1316228 D RGD:7240710 20190315 OMIM 11838942 NEK9 NIMA related kinase 9 gene DOID:9009038 Nevus Comedonicus ISO RGD:1316228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nevus comedonicus PMID:27153399 11838970 ADCK5 aarF domain containing kinase 5 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1313570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11838970 ADCK5 aarF domain containing kinase 5 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1313570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11838970 ADCK5 aarF domain containing kinase 5 gene DOID:4621 holoprosencephaly ISO RGD:1313570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11838970 ADCK5 aarF domain containing kinase 5 gene DOID:630 genetic disease ISO RGD:1313570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838997 CBFA2T3 CBFA2/RUNX1 partner transcriptional co-repressor 3 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1321512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 11838997 CBFA2T3 CBFA2/RUNX1 partner transcriptional co-repressor 3 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1321512 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11838997 CBFA2T3 CBFA2/RUNX1 partner transcriptional co-repressor 3 gene DOID:14780 KBG syndrome ISO RGD:1321512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31690835 11838997 CBFA2T3 CBFA2/RUNX1 partner transcriptional co-repressor 3 gene DOID:630 genetic disease ISO RGD:1321512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11838997 CBFA2T3 CBFA2/RUNX1 partner transcriptional co-repressor 3 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1321512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 11839015 INSRR insulin receptor related receptor gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1346961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11839015 INSRR insulin receptor related receptor gene DOID:0050547 familial medullary thyroid carcinoma ISO RGD:1346961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary 11839015 INSRR insulin receptor related receptor gene DOID:0070146 hereditary sensory neuropathy type 4 ISO RGD:1346961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HSAN 4 | ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV 11839015 INSRR insulin receptor related receptor gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1346961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11839015 INSRR insulin receptor related receptor gene DOID:0111940 immunodeficiency 42 ISO RGD:1346961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11839015 INSRR insulin receptor related receptor gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1346961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11839015 INSRR insulin receptor related receptor gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1346961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11839015 INSRR insulin receptor related receptor gene DOID:1540 parathyroid carcinoma ISO RGD:1346961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11839015 INSRR insulin receptor related receptor gene DOID:5812 MHC class II deficiency ISO RGD:1346961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11839015 INSRR insulin receptor related receptor gene DOID:630 genetic disease ISO RGD:1346961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11839015 INSRR insulin receptor related receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11839055 SLC66A2 solute carrier family 66 member 2 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1313123 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11839055 SLC66A2 solute carrier family 66 member 2 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1313123 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 11839055 SLC66A2 solute carrier family 66 member 2 gene DOID:630 genetic disease ISO RGD:1313123 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11839055 SLC66A2 solute carrier family 66 member 2 gene DOID:6420 pulmonary valve stenosis ISO RGD:1313123 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 11839055 SLC66A2 solute carrier family 66 member 2 gene DOID:8445 intestinal volvulus ISO RGD:1313123 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11839055 SLC66A2 solute carrier family 66 member 2 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1313123 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 11839055 SLC66A2 solute carrier family 66 member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313123 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11839055 SLC66A2 solute carrier family 66 member 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1313123 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11839070 DEFB119 defensin beta 119 gene DOID:229 female reproductive system disease ISO RGD:1615624 D RGD:9068941 20230202 MouseDO 11839070 DEFB119 defensin beta 119 gene DOID:630 genetic disease ISO RGD:1606419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11839082 MEIKIN meiotic kinetochore factor gene DOID:5419 schizophrenia ISO RGD:9685644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11839100 TPI1 triosephosphate isomerase 1 gene DOID:0050884 triosephosphate isomerase deficiency ISO RGD:737023 D RGD:7240710 20180130 OMIM 11839100 TPI1 triosephosphate isomerase 1 gene DOID:0050884 triosephosphate isomerase deficiency ISO RGD:737023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Triosephosphate isomerase deficiency PMID:10209987|PMID:10910933|PMID:11196750|PMID:11698297|PMID:17183658|PMID:17576681|PMID:18562316|PMID:20374271|PMID:24033266|PMID:24056040|PMID:24192681|PMID:24840153|PMID:25741868|PMID:26863999|PMID:27717089|PMID:28492532|PMID:2876430|PMID:32873690|PMID:7485100|PMID:7628118|PMID:8244340|PMID:8503454|PMID:8571957|PMID:8579052|PMID:9338582|PMID:9536098|PMID:9842650 11839100 TPI1 triosephosphate isomerase 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:737023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11839100 TPI1 triosephosphate isomerase 1 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:737023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11839100 TPI1 triosephosphate isomerase 1 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:737023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11839100 TPI1 triosephosphate isomerase 1 gene DOID:0080600 COVID-19 ISO RGD:737023 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11839100 TPI1 triosephosphate isomerase 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:737023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11839100 TPI1 triosephosphate isomerase 1 gene DOID:0111621 Temtamy syndrome ISO RGD:737023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11839100 TPI1 triosephosphate isomerase 1 gene DOID:10652 Alzheimer's disease ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19374891 11839100 TPI1 triosephosphate isomerase 1 gene DOID:11476 osteoporosis ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 11839100 TPI1 triosephosphate isomerase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 11839100 TPI1 triosephosphate isomerase 1 gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8503454 11839100 TPI1 triosephosphate isomerase 1 gene DOID:2978 carbohydrate metabolic disorder ISO RGD:737023 D RGD:9068941 20200609 RGD triosephosphate isomerase deficiency PMID:9338582|REF_RGD_ID:1599584 11839100 TPI1 triosephosphate isomerase 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 11839100 TPI1 triosephosphate isomerase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11839100 TPI1 triosephosphate isomerase 1 gene DOID:440 neuromuscular disease ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8503454 11839100 TPI1 triosephosphate isomerase 1 gene DOID:583 hemolytic anemia ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2876430 11839100 TPI1 triosephosphate isomerase 1 gene DOID:630 genetic disease ISO RGD:737023 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11839100 TPI1 triosephosphate isomerase 1 gene DOID:655 inherited metabolic disorder ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2876430|PMID:8503454 11839100 TPI1 triosephosphate isomerase 1 gene DOID:9000165 Neuromuscular Manifestations ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2876430|PMID:8503454 11839100 TPI1 triosephosphate isomerase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3896 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:17465459|REF_RGD_ID:5147874 11839100 TPI1 triosephosphate isomerase 1 gene DOID:9006205 Animal Disease Models ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11839100 TPI1 triosephosphate isomerase 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 11839100 TPI1 triosephosphate isomerase 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:737023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11839100 TPI1 triosephosphate isomerase 1 gene DOID:9282 ocular hypertension ISO RGD:3896 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:18626730|REF_RGD_ID:2303613 11839115 CIDEC cell death inducing DFFA like effector c gene DOID:0050440 familial partial lipodystrophy ISO RGD:1354006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11839115 CIDEC cell death inducing DFFA like effector c gene DOID:0070203 familial partial lipodystrophy type 5 ISO RGD:1354006 D RGD:7240710 20180130 OMIM 11839115 CIDEC cell death inducing DFFA like effector c gene DOID:0070203 familial partial lipodystrophy type 5 ISO RGD:1354006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH CIDEC MUTATIONS PMID:18654663|PMID:20049731|PMID:25741868 11839115 CIDEC cell death inducing DFFA like effector c gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1354006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 11839115 CIDEC cell death inducing DFFA like effector c gene DOID:2843 long QT syndrome ISO RGD:1354006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11839115 CIDEC cell death inducing DFFA like effector c gene DOID:3042 allergic contact dermatitis ISO RGD:1354006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 11839115 CIDEC cell death inducing DFFA like effector c gene DOID:630 genetic disease ISO RGD:1354006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11839115 CIDEC cell death inducing DFFA like effector c gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11839115 CIDEC cell death inducing DFFA like effector c gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1354006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 11839115 CIDEC cell death inducing DFFA like effector c gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1354006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 11839123 ARHGAP4 Rho GTPase activating protein 4 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1343373 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11839123 ARHGAP4 Rho GTPase activating protein 4 gene DOID:0050476 Barth syndrome ISO RGD:1343373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11839123 ARHGAP4 Rho GTPase activating protein 4 gene DOID:0050800 creatine transporter deficiency ISO RGD:1343373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 11839123 ARHGAP4 Rho GTPase activating protein 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 11839123 ARHGAP4 Rho GTPase activating protein 4 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1343373 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 11839123 ARHGAP4 Rho GTPase activating protein 4 gene DOID:0112003 immunodeficiency 33 ISO RGD:1343373 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11839123 ARHGAP4 Rho GTPase activating protein 4 gene DOID:10588 adrenoleukodystrophy ISO RGD:1343373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11839123 ARHGAP4 Rho GTPase activating protein 4 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11839123 ARHGAP4 Rho GTPase activating protein 4 gene DOID:12849 autistic disorder ISO RGD:1343373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11839123 ARHGAP4 Rho GTPase activating protein 4 gene DOID:13628 favism ISO RGD:1343373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11839123 ARHGAP4 Rho GTPase activating protein 4 gene DOID:2729 dyskeratosis congenita ISO RGD:1343373 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11839123 ARHGAP4 Rho GTPase activating protein 4 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1343373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11839123 ARHGAP4 Rho GTPase activating protein 4 gene DOID:607 paraplegia ISO RGD:1343373 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11839123 ARHGAP4 Rho GTPase activating protein 4 gene DOID:630 genetic disease ISO RGD:1343373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11839123 ARHGAP4 Rho GTPase activating protein 4 gene DOID:9002720 Splenomegaly ISO RGD:1343373 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11839152 DOCK4 dedicator of cytokinesis 4 gene DOID:12849 autistic disorder ISO RGD:1350295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11839152 DOCK4 dedicator of cytokinesis 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11839152 DOCK4 dedicator of cytokinesis 4 gene DOID:5419 schizophrenia ISO RGD:1350295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11839152 DOCK4 dedicator of cytokinesis 4 gene DOID:630 genetic disease ISO RGD:1350295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11839152 DOCK4 dedicator of cytokinesis 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11839214 CSF3 colony stimulating factor 3 gene DOID:0001816 angiosarcoma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9774950 11839214 CSF3 colony stimulating factor 3 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11321886 11839214 CSF3 colony stimulating factor 3 gene DOID:0050852 limb ischemia treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:16224058|PMID:23294128|REF_RGD_ID:10400895|REF_RGD_ID:11039414 11839214 CSF3 colony stimulating factor 3 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11911406 11839214 CSF3 colony stimulating factor 3 gene DOID:0080000 muscular disease ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7543699 11839214 CSF3 colony stimulating factor 3 gene DOID:0080177 hepatic veno-occlusive disease ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8602625 11839214 CSF3 colony stimulating factor 3 gene DOID:0080178 mucositis ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17047649|PMID:7543699 11839214 CSF3 colony stimulating factor 3 gene DOID:0080600 COVID-19 ISO RGD:1350955 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:31986264 11839214 CSF3 colony stimulating factor 3 gene DOID:0080600 COVID-19 severity ISO RGD:1350955 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|PMID:32360286|REF_RGD_ID:30309209|REF_RGD_ID:30309212 11839214 CSF3 colony stimulating factor 3 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1350955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 11839214 CSF3 colony stimulating factor 3 gene DOID:10247 pleurisy ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:8841835|REF_RGD_ID:11039424 11839214 CSF3 colony stimulating factor 3 gene DOID:11054 urinary bladder cancer ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17515069|PMID:7525883 11839214 CSF3 colony stimulating factor 3 gene DOID:114 heart disease ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19429242 11839214 CSF3 colony stimulating factor 3 gene DOID:11450 allergic cutaneous vasculitis treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with Severe Congenital Neutropenia; PMID:20100783|REF_RGD_ID:11039037 11839214 CSF3 colony stimulating factor 3 gene DOID:12010 anterior ischemic optic neuropathy treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:24316388|REF_RGD_ID:11039419 11839214 CSF3 colony stimulating factor 3 gene DOID:1227 neutropenia ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11712802|PMID:12085204|PMID:12884814|PMID:12926135|PMID:15585077|PMID:16761898|PMID:27737899|PMID:7524159|PMID:7529132|PMID:7543699|PMID:7688884|PMID:9740541|PMID:9774950 11839214 CSF3 colony stimulating factor 3 gene DOID:1227 neutropenia ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:10654961|REF_RGD_ID:11039039 11839214 CSF3 colony stimulating factor 3 gene DOID:12449 aplastic anemia ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10544668|PMID:10629575|PMID:15863969|PMID:1642096|PMID:16553037|PMID:9777751 11839214 CSF3 colony stimulating factor 3 gene DOID:12450 pancytopenia ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17505274|PMID:9051142 11839214 CSF3 colony stimulating factor 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17334414 11839214 CSF3 colony stimulating factor 3 gene DOID:12987 agranulocytosis ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15999287 11839214 CSF3 colony stimulating factor 3 gene DOID:13250 diarrhea ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7543699 11839214 CSF3 colony stimulating factor 3 gene DOID:1561 cognitive disorder treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with Status Epilepticus; PMID:20410588|REF_RGD_ID:11039464 11839214 CSF3 colony stimulating factor 3 gene DOID:1588 thrombocytopenia ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12085204|PMID:7543699 11839214 CSF3 colony stimulating factor 3 gene DOID:1596 depressive disorder ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9018096 11839214 CSF3 colony stimulating factor 3 gene DOID:1679 cystitis ISO RGD:2426 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:18848347|REF_RGD_ID:2317284 11839214 CSF3 colony stimulating factor 3 gene DOID:1909 melanoma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16120623|PMID:16260693 11839214 CSF3 colony stimulating factor 3 gene DOID:1967 leiomyosarcoma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9774950 11839214 CSF3 colony stimulating factor 3 gene DOID:224 transient cerebral ischemia treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:12624302|REF_RGD_ID:10450512 11839214 CSF3 colony stimulating factor 3 gene DOID:2316 brain ischemia ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18832793|REF_RGD_ID:2311241 11839214 CSF3 colony stimulating factor 3 gene DOID:2355 anemia ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12085204|PMID:16076697|PMID:17047649 11839214 CSF3 colony stimulating factor 3 gene DOID:2671 transitional cell carcinoma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7525883|PMID:7543010 11839214 CSF3 colony stimulating factor 3 gene DOID:2741 bilirubin metabolic disorder ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8602625 11839214 CSF3 colony stimulating factor 3 gene DOID:2841 asthma ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:21396376|REF_RGD_ID:5133731 11839214 CSF3 colony stimulating factor 3 gene DOID:2841 asthma ISO RGD:731416 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20405019|REF_RGD_ID:5131473 11839214 CSF3 colony stimulating factor 3 gene DOID:305 carcinoma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9018096 11839214 CSF3 colony stimulating factor 3 gene DOID:3525 middle cerebral artery infarction ISO RGD:2426 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain: PMID:15530654|REF_RGD_ID:11039425 11839214 CSF3 colony stimulating factor 3 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:19298757|REF_RGD_ID:11039420 11839214 CSF3 colony stimulating factor 3 gene DOID:3770 pulmonary fibrosis ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17894541 11839214 CSF3 colony stimulating factor 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7692001 11839214 CSF3 colony stimulating factor 3 gene DOID:409 liver disease ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19429242 11839214 CSF3 colony stimulating factor 3 gene DOID:5409 lung small cell carcinoma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9093707 11839214 CSF3 colony stimulating factor 3 gene DOID:557 kidney disease ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19429242 11839214 CSF3 colony stimulating factor 3 gene DOID:574 peripheral nervous system disease ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9740541 11839214 CSF3 colony stimulating factor 3 gene DOID:5844 myocardial infarction treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:15639484|REF_RGD_ID:11039417 11839214 CSF3 colony stimulating factor 3 gene DOID:6000 congestive heart failure ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15585077 11839214 CSF3 colony stimulating factor 3 gene DOID:615 leukopenia ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16076697|PMID:16120623|PMID:16937080|PMID:7543699 11839214 CSF3 colony stimulating factor 3 gene DOID:630 genetic disease ISO RGD:1350955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11839214 CSF3 colony stimulating factor 3 gene DOID:6432 pulmonary hypertension ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:12524378|REF_RGD_ID:11039539 11839214 CSF3 colony stimulating factor 3 gene DOID:6432 pulmonary hypertension treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:17186992|REF_RGD_ID:11039432 11839214 CSF3 colony stimulating factor 3 gene DOID:707 B-cell lymphoma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11042651 11839214 CSF3 colony stimulating factor 3 gene DOID:77 gastrointestinal system disease ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17047649 11839214 CSF3 colony stimulating factor 3 gene DOID:8472 localized scleroderma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15863969 11839214 CSF3 colony stimulating factor 3 gene DOID:850 lung disease ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with Hyperoxia PMID:21155037|REF_RGD_ID:5133732 11839214 CSF3 colony stimulating factor 3 gene DOID:850 lung disease ISO RGD:2426 D RGD:9068941 20200609 RGD associated with Shock, Hemorrhagic;protein:increased expression:bronchus epithelium PMID:9374735|REF_RGD_ID:5133737 11839214 CSF3 colony stimulating factor 3 gene DOID:8567 Hodgkin's lymphoma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17562247 11839214 CSF3 colony stimulating factor 3 gene DOID:863 nervous system disease ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17047649 11839214 CSF3 colony stimulating factor 3 gene DOID:8692 myeloid leukemia disease_progression ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:7510191|REF_RGD_ID:11039040 11839214 CSF3 colony stimulating factor 3 gene DOID:874 bacterial pneumonia disease_progression ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:21373266|REF_RGD_ID:5133733 11839214 CSF3 colony stimulating factor 3 gene DOID:874 bacterial pneumonia treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with Peritonitis; PMID:12352049|REF_RGD_ID:11039437 11839214 CSF3 colony stimulating factor 3 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:21953623|REF_RGD_ID:10450511 11839214 CSF3 colony stimulating factor 3 gene DOID:9000040 Hypertrophy ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18785976 11839214 CSF3 colony stimulating factor 3 gene DOID:9000046 Poisoning ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15727166 11839214 CSF3 colony stimulating factor 3 gene DOID:9000053 Headache ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10864982 11839214 CSF3 colony stimulating factor 3 gene DOID:9000099 Experimental Colitis treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:16689657|REF_RGD_ID:11039462 11839214 CSF3 colony stimulating factor 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7692001 11839214 CSF3 colony stimulating factor 3 gene DOID:9000242 Lymphoma, AIDS-Related ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12176798 11839214 CSF3 colony stimulating factor 3 gene DOID:9000310 Lung Injury ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:14585735|REF_RGD_ID:11039441 11839214 CSF3 colony stimulating factor 3 gene DOID:9000641 Pain ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10864982|PMID:7541186|PMID:8622042 11839214 CSF3 colony stimulating factor 3 gene DOID:9000784 Fibrosis ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18785976|PMID:20005281 11839214 CSF3 colony stimulating factor 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7543699|PMID:9018096 11839214 CSF3 colony stimulating factor 3 gene DOID:9000972 Fever ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9740541 11839214 CSF3 colony stimulating factor 3 gene DOID:9000998 Brain Injuries ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 11839214 CSF3 colony stimulating factor 3 gene DOID:9000998 Brain Injuries treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:24239694|REF_RGD_ID:11039431 11839214 CSF3 colony stimulating factor 3 gene DOID:9001039 Leukocytosis ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with neoplasms; PMID:18756972|REF_RGD_ID:11039421 11839214 CSF3 colony stimulating factor 3 gene DOID:9001049 Staphylococcal Pneumonia treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:10228098|REF_RGD_ID:11039478 11839214 CSF3 colony stimulating factor 3 gene DOID:9001142 Drug-Induced Agranulocytosis treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with Graves Disease; PMID:15785251|REF_RGD_ID:11039034 11839214 CSF3 colony stimulating factor 3 gene DOID:9001142 Drug-Induced Agranulocytosis treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with Multiple Myeloma; PMID:8935143|REF_RGD_ID:11039041 11839214 CSF3 colony stimulating factor 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15661404 11839214 CSF3 colony stimulating factor 3 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12926135|PMID:17334414 11839214 CSF3 colony stimulating factor 3 gene DOID:9002174 Disease Susceptibility ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20026017 11839214 CSF3 colony stimulating factor 3 gene DOID:9002211 Hyperalgesia treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy; PMID:24253780|REF_RGD_ID:11039470 11839214 CSF3 colony stimulating factor 3 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:12742377|REF_RGD_ID:11039465 11839214 CSF3 colony stimulating factor 3 gene DOID:9002641 Bone Marrow Neoplasms ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20026017 11839214 CSF3 colony stimulating factor 3 gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:19169816|REF_RGD_ID:11039433 11839214 CSF3 colony stimulating factor 3 gene DOID:9003139 Cardiac Fibrosis ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with Myocardial Infarction; PMID:18676396|REF_RGD_ID:11039480 11839214 CSF3 colony stimulating factor 3 gene DOID:9003199 Systemic Vasculitis ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:23087180|REF_RGD_ID:11039411 11839214 CSF3 colony stimulating factor 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11839214 CSF3 colony stimulating factor 3 gene DOID:9003491 Enterobacteriaceae Infections ISO RGD:2426 D RGD:9068941 20200609 RGD PMID:9835289|REF_RGD_ID:11039473 11839214 CSF3 colony stimulating factor 3 gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis ISO RGD:1350955 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:23087180|REF_RGD_ID:11039411 11839214 CSF3 colony stimulating factor 3 gene DOID:9004268 Uterine Neoplasms ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9774950 11839214 CSF3 colony stimulating factor 3 gene DOID:9004283 Transplant Rejection treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:18589159|REF_RGD_ID:11039422 11839214 CSF3 colony stimulating factor 3 gene DOID:9004464 Skin Neoplasms ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9774950 11839214 CSF3 colony stimulating factor 3 gene DOID:9004484 Sepsis ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17505274 11839214 CSF3 colony stimulating factor 3 gene DOID:9004484 Sepsis treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:8706460|REF_RGD_ID:11039434 11839214 CSF3 colony stimulating factor 3 gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic; PMID:17660602|REF_RGD_ID:11039036 11839214 CSF3 colony stimulating factor 3 gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with Leukemia, Hairy Cell; PMID:2461131|REF_RGD_ID:11039035 11839214 CSF3 colony stimulating factor 3 gene DOID:9004590 Acute Liver Failure ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21550386 11839214 CSF3 colony stimulating factor 3 gene DOID:9004590 Acute Liver Failure treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:18756972|PMID:21550386|REF_RGD_ID:11039421|REF_RGD_ID:11039537 11839214 CSF3 colony stimulating factor 3 gene DOID:9005532 Muscle Weakness ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8622042 11839214 CSF3 colony stimulating factor 3 gene DOID:9005600 Infarction ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15135374 11839214 CSF3 colony stimulating factor 3 gene DOID:9005715 Neoplasms, Second Primary ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20026017 11839214 CSF3 colony stimulating factor 3 gene DOID:9005930 Endotoxemia treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:9514298|REF_RGD_ID:11039535 11839214 CSF3 colony stimulating factor 3 gene DOID:9006065 Arthralgia ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7543699 11839214 CSF3 colony stimulating factor 3 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7692001 11839214 CSF3 colony stimulating factor 3 gene DOID:9006182 Carotid Artery Injuries ISO RGD:2426 D RGD:9068941 20200609 RGD protein:increased expression:smooth muscle cell: PMID:15385271|REF_RGD_ID:11039423 11839214 CSF3 colony stimulating factor 3 gene DOID:9006205 Animal Disease Models ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27737899 11839214 CSF3 colony stimulating factor 3 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1350955 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:27737899|PMID:31557154|PMID:7692001 11839214 CSF3 colony stimulating factor 3 gene DOID:9007096 Stroke ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:17656664|REF_RGD_ID:5134350 11839214 CSF3 colony stimulating factor 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9018096 11839214 CSF3 colony stimulating factor 3 gene DOID:9007367 Septic Peritonitis treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:8656607|REF_RGD_ID:11039538 11839214 CSF3 colony stimulating factor 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20005281 11839214 CSF3 colony stimulating factor 3 gene DOID:9007429 Soft Tissue Neoplasms ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7543699 11839214 CSF3 colony stimulating factor 3 gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:9117128|REF_RGD_ID:11039476 11839214 CSF3 colony stimulating factor 3 gene DOID:9008091 Optic Nerve Injuries treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:20144610|REF_RGD_ID:11039471 11839214 CSF3 colony stimulating factor 3 gene DOID:9008232 Neutrophilia treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:2475183|REF_RGD_ID:11039032 11839214 CSF3 colony stimulating factor 3 gene DOID:9008625 Somatosensory Disorders ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7543699 11839214 CSF3 colony stimulating factor 3 gene DOID:9008691 Liver Injury treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:8864679|REF_RGD_ID:11039467 11839214 CSF3 colony stimulating factor 3 gene DOID:9008885 Staphylococcal Infections ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27737899 11839214 CSF3 colony stimulating factor 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12926135|PMID:16076697|PMID:16298037|PMID:17047649|PMID:7541186|PMID:7543699|PMID:7692001|PMID:9018096 11839214 CSF3 colony stimulating factor 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7528855 11839214 CSF3 colony stimulating factor 3 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:10673519|REF_RGD_ID:11039033 11839214 CSF3 colony stimulating factor 3 gene DOID:9538 multiple myeloma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7534716|PMID:7540856 11839214 CSF3 colony stimulating factor 3 gene DOID:9637 stomatitis ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12085204 11839214 CSF3 colony stimulating factor 3 gene DOID:9675 pulmonary emphysema treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:19537526|REF_RGD_ID:11039438 11839214 CSF3 colony stimulating factor 3 gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:9250830|REF_RGD_ID:11039038 11839224 NTHL1 nth like DNA glycosylase 1 gene DOID:0050424 familial adenomatous polyposis ISO RGD:1319554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25938944 11839224 NTHL1 nth like DNA glycosylase 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1319554 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29432982|PMID:29932062|PMID:32917966 11839224 NTHL1 nth like DNA glycosylase 1 gene DOID:0080411 familial adenomatous polyposis 3 ISO RGD:1319554 D RGD:7240710 20180130 OMIM 11839224 NTHL1 nth like DNA glycosylase 1 gene DOID:0080411 familial adenomatous polyposis 3 ISO RGD:1319554 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 3 PMID:12840008|PMID:16199547|PMID:18515411|PMID:20054297|PMID:23852950|PMID:25741868|PMID:25938944|PMID:26431160|PMID:26467025|PMID:26553438|PMID:26559593|PMID:26649986|PMID:27329137|PMID:27713038|PMID:27720914|PMID:28492532|PMID:28912133|PMID:29625052|PMID:29641532|PMID:29909963|PMID:30248171|PMID:30552997|PMID:30584090|PMID:30753826|PMID:30833958|PMID:31220976|PMID:31227763|PMID:31263571|PMID:31285513|PMID:31360874|PMID:31942411|PMID:32300177|PMID:32581083|PMID:32704608|PMID:32860789|PMID:32906206|PMID:33087284|PMID:33193653|PMID:33332384|PMID:33454955|PMID:33980861 11839224 NTHL1 nth like DNA glycosylase 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1319554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11839224 NTHL1 nth like DNA glycosylase 1 gene DOID:1826 epilepsy ISO RGD:1319554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11839224 NTHL1 nth like DNA glycosylase 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11839224 NTHL1 nth like DNA glycosylase 1 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:1319554 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lymphangiomyomatosis PMID:25741868|PMID:28492532 11839224 NTHL1 nth like DNA glycosylase 1 gene DOID:9006741 Acute Hepatitis ISO RGD:1309289 D RGD:9068941 20200609 RGD PMID:20033472|REF_RGD_ID:11568659 11839224 NTHL1 nth like DNA glycosylase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12144783|PMID:16199547|PMID:17576681|PMID:18515411|PMID:20054297|PMID:21167187|PMID:25741868|PMID:25938944|PMID:26431160|PMID:26467025|PMID:26553438|PMID:26559593|PMID:26649986|PMID:27329137|PMID:27713038|PMID:27720914|PMID:28492532|PMID:28912133|PMID:29909963|PMID:30552997|PMID:30753826|PMID:31227763|PMID:31285513|PMID:31360874|PMID:31942411|PMID:33193653|PMID:9536098 11839224 NTHL1 nth like DNA glycosylase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319554 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12840008|PMID:16199547|PMID:17576681|PMID:18515411|PMID:20054297|PMID:21167187|PMID:23852950|PMID:25741868|PMID:25938944|PMID:25995449|PMID:26431160|PMID:26467025|PMID:26553438|PMID:26559593|PMID:26649986|PMID:27329137|PMID:27713038|PMID:27720914|PMID:28492532|PMID:28912133|PMID:29522130|PMID:29625052|PMID:29641532|PMID:29909963|PMID:30248171|PMID:30267214|PMID:30552997|PMID:30584090|PMID:30753826|PMID:30833958|PMID:31220976|PMID:31227763|PMID:31263571|PMID:31285513|PMID:31360874|PMID:31942411|PMID:32091409|PMID:32300177|PMID:32581083|PMID:32704608|PMID:32860789|PMID:32906206|PMID:33087284|PMID:33193653|PMID:33332384|PMID:33454955|PMID:33980861|PMID:9536098 11839224 NTHL1 nth like DNA glycosylase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319554 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12840008|PMID:16199547|PMID:17576681|PMID:18515411|PMID:20054297|PMID:21167187|PMID:23852950|PMID:25741868|PMID:25938944|PMID:25995449|PMID:26431160|PMID:26467025|PMID:26553438|PMID:26559593|PMID:26649986|PMID:27329137|PMID:27713038|PMID:27720914|PMID:28492532|PMID:28912133|PMID:29522130|PMID:29625052|PMID:29641532|PMID:29909963|PMID:30248171|PMID:30267214|PMID:30552997|PMID:30584090|PMID:30753826|PMID:30833958|PMID:31220976|PMID:31227763|PMID:31263571|PMID:31285513|PMID:31360874|PMID:31942411|PMID:32091409|PMID:32300177|PMID:32581083|PMID:32704608|PMID:32860789|PMID:32906206|PMID:33087284|PMID:33193653|PMID:33332384|PMID:33454955|PMID:33980861|PMID:35128723|PMID:9536098|PMID:9705289 11839224 NTHL1 nth like DNA glycosylase 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1319554 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:18515411|PMID:25741868|PMID:25938944|PMID:26431160|PMID:26467025|PMID:26553438|PMID:26559593|PMID:26649986|PMID:27713038|PMID:27720914|PMID:28492532|PMID:29909963|PMID:30248171|PMID:30753826|PMID:33193653 11839235 KCNV2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:0050795 cone dystrophy ISO RGD:1319524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy | ClinVar Annotator: match by term: RETINAL CONE DYSTROPHY PMID:16909397|PMID:18235024|PMID:23885164|PMID:25741868|PMID:28492532 11839235 KCNV2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:0050817 Stargardt disease ISO RGD:1319524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:18235024|PMID:30718709|PMID:8333273 11839235 KCNV2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1319524 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 11839235 KCNV2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:0080314 cone-rod dystrophy 14 ISO RGD:1319524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy 3 PMID:23885164|PMID:25741868|PMID:28492532 11839235 KCNV2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:0081022 retinal cone dystrophy 3B ISO RGD:1319524 D RGD:7240710 20180130 OMIM 11839235 KCNV2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:0081022 retinal cone dystrophy 3B ISO RGD:1319524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES | ClinVar Annotator: match by term: Cone dystrophy with night blindness and supernormal rod responses KCNV2 related | ClinVar Annotator: match by term: Retinal cone dystrophy 3B | ClinVar Annotator: match by term: cone dystrophy with supernormal rod electroretinogram PMID:16909397|PMID:17896311|PMID:18235024|PMID:18400204|PMID:21402906|PMID:21558291|PMID:21882291|PMID:21911584|PMID:22264887|PMID:23077521|PMID:23115240|PMID:23143909|PMID:23725738|PMID:23885164|PMID:25741868|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:30718709|PMID:31456290|PMID:31960170|PMID:33546218|PMID:8333273 11839235 KCNV2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:1319524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:25741868 11839235 KCNV2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:630 genetic disease ISO RGD:1319524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26992781|PMID:28492532|PMID:33090715 11839235 KCNV2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:8501 fundus dystrophy ISO RGD:1319524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16909397|PMID:17896311|PMID:18235024|PMID:18400204|PMID:21558291|PMID:21882291|PMID:21911584|PMID:23115240|PMID:23885164|PMID:25741868|PMID:28041643|PMID:28492532|PMID:33309813|PMID:33546218 11839235 KCNV2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1319524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:17896311|PMID:18235024|PMID:18400204|PMID:21882291|PMID:21911584|PMID:23115240|PMID:23885164|PMID:25741868|PMID:28492532|PMID:33546218 11839235 KCNV2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1319524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus PMID:18235024|PMID:30718709|PMID:8333273 11839235 KCNV2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:9650 pathologic nystagmus ISO RGD:1319524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:17896311|PMID:18235024|PMID:18400204|PMID:21882291|PMID:21911584|PMID:23115240|PMID:23885164|PMID:25741868|PMID:28492532|PMID:33546218 11839242 ZNRF3 zinc and ring finger 3 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1342950 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 11839242 ZNRF3 zinc and ring finger 3 gene DOID:1793 pancreatic cancer ISO RGD:1342950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25086665|PMID:26098869 11839242 ZNRF3 zinc and ring finger 3 gene DOID:3948 adrenocortical carcinoma ISO RGD:1342950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747642 11839242 ZNRF3 zinc and ring finger 3 gene DOID:630 genetic disease ISO RGD:1342950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11839242 ZNRF3 zinc and ring finger 3 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1342950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 11839255 WDR44 WD repeat domain 44 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11839255 WDR44 WD repeat domain 44 gene DOID:12849 autistic disorder ISO RGD:1348946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11839255 WDR44 WD repeat domain 44 gene DOID:630 genetic disease ISO RGD:1348946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11839284 UNC45A unc-45 myosin chaperone A gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1603630 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 11839284 UNC45A unc-45 myosin chaperone A gene DOID:13250 diarrhea ISO RGD:1603630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diarrhea PMID:25741868 11839284 UNC45A unc-45 myosin chaperone A gene DOID:2717 Bloom syndrome ISO RGD:1603630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11839284 UNC45A unc-45 myosin chaperone A gene DOID:630 genetic disease ISO RGD:1603630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11839284 UNC45A unc-45 myosin chaperone A gene DOID:9004291 Osteootohepatoenteric Syndrome ISO RGD:1603630 D RGD:7240710 20210616 OMIM 11839284 UNC45A unc-45 myosin chaperone A gene DOID:9004291 Osteootohepatoenteric Syndrome ISO RGD:1603630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteootohepatoenteric syndrome PMID:25741868|PMID:28492532|PMID:29429573|PMID:31231135 11839322 CPXM1 carboxypeptidase X, M14 family member 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1315836 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11839322 CPXM1 carboxypeptidase X, M14 family member 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1315836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11839322 CPXM1 carboxypeptidase X, M14 family member 1 gene DOID:630 genetic disease ISO RGD:1315836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11839340 RBM3 RNA binding motif protein 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11839340 RBM3 RNA binding motif protein 3 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1350280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 11839340 RBM3 RNA binding motif protein 3 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1350280 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11839340 RBM3 RNA binding motif protein 3 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1350280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11839340 RBM3 RNA binding motif protein 3 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1350280 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11839340 RBM3 RNA binding motif protein 3 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1350280 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 11839340 RBM3 RNA binding motif protein 3 gene DOID:12849 autistic disorder ISO RGD:1350280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11839340 RBM3 RNA binding motif protein 3 gene DOID:630 genetic disease ISO RGD:1350280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11839340 RBM3 RNA binding motif protein 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11839340 RBM3 RNA binding motif protein 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1350280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19734850 11839351 ZSCAN32 zinc finger and SCAN domain containing 32 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1343279 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11839351 ZSCAN32 zinc finger and SCAN domain containing 32 gene DOID:1826 epilepsy ISO RGD:1343279 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11839351 ZSCAN32 zinc finger and SCAN domain containing 32 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1343279 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11839351 ZSCAN32 zinc finger and SCAN domain containing 32 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1343279 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 11839351 ZSCAN32 zinc finger and SCAN domain containing 32 gene DOID:630 genetic disease ISO RGD:1343279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11839366 ATP13A4 ATPase 13A4 gene DOID:3529 central core disease ISO RGD:1346317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central core myopathy PMID:25741868 11839366 ATP13A4 ATPase 13A4 gene DOID:5419 schizophrenia ISO RGD:1346317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11839366 ATP13A4 ATPase 13A4 gene DOID:630 genetic disease ISO RGD:1346317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11839401 PATE2 prostate and testis expressed 2 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1602157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11839401 PATE2 prostate and testis expressed 2 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1602157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11839401 PATE2 prostate and testis expressed 2 gene DOID:5419 schizophrenia ISO RGD:1602157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11839401 PATE2 prostate and testis expressed 2 gene DOID:630 genetic disease ISO RGD:1602157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11839401 PATE2 prostate and testis expressed 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1602157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11839401 PATE2 prostate and testis expressed 2 gene DOID:9007661 Dwarfism ISO RGD:1602157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11839409 SMPDL3A sphingomyelin phosphodiesterase acid like 3A gene DOID:1826 epilepsy ISO RGD:1347939 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11839409 SMPDL3A sphingomyelin phosphodiesterase acid like 3A gene DOID:289 endometriosis ISO RGD:1347939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11839409 SMPDL3A sphingomyelin phosphodiesterase acid like 3A gene DOID:630 genetic disease ISO RGD:1347939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11839429 ZNF653 zinc finger protein 653 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1347968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11839429 ZNF653 zinc finger protein 653 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1347968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11839429 ZNF653 zinc finger protein 653 gene DOID:0111254 glutaric acidemia I ISO RGD:1347968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11839429 ZNF653 zinc finger protein 653 gene DOID:3413 alpha-mannosidosis ISO RGD:1347968 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11839429 ZNF653 zinc finger protein 653 gene DOID:630 genetic disease ISO RGD:1347968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11839446 DNAI2 dynein axonemal intermediate chain 2 gene DOID:0050144 Kartagener syndrome ISO RGD:1615480 D RGD:9068941 20221013 MouseDO 11839446 DNAI2 dynein axonemal intermediate chain 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1347605 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11839446 DNAI2 dynein axonemal intermediate chain 2 gene DOID:0110622 primary ciliary dyskinesia 9 ISO RGD:1347605 D RGD:7240710 20180130 OMIM 11839446 DNAI2 dynein axonemal intermediate chain 2 gene DOID:0110622 primary ciliary dyskinesia 9 ISO RGD:1347605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 9 PMID:16199547|PMID:17576681|PMID:18950741|PMID:20301301|PMID:23261302|PMID:23891469|PMID:24033266|PMID:25741868|PMID:25802884|PMID:28492532|PMID:9536098 11839446 DNAI2 dynein axonemal intermediate chain 2 gene DOID:630 genetic disease ISO RGD:1347605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11839446 DNAI2 dynein axonemal intermediate chain 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1347605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:18950741|PMID:20301301|PMID:23261302|PMID:23891469|PMID:24033266|PMID:24498942|PMID:25640679|PMID:25741868|PMID:25802884|PMID:28492532|PMID:32253119|PMID:9536098 11839483 PPM1J protein phosphatase, Mg2+/Mn2+ dependent 1J gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1603861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 11839483 PPM1J protein phosphatase, Mg2+/Mn2+ dependent 1J gene DOID:13938 amenorrhea ISO RGD:1603861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11839483 PPM1J protein phosphatase, Mg2+/Mn2+ dependent 1J gene DOID:630 genetic disease ISO RGD:1603861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11839516 NAPEPLD N-acyl phosphatidylethanolamine phospholipase D gene DOID:12858 Huntington's disease ISO RGD:1615640 D RGD:9068941 20200609 RGD PMID:23659592|REF_RGD_ID:10412654 11839516 NAPEPLD N-acyl phosphatidylethanolamine phospholipase D gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11839516 NAPEPLD N-acyl phosphatidylethanolamine phospholipase D gene DOID:630 genetic disease ISO RGD:1603533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11839516 NAPEPLD N-acyl phosphatidylethanolamine phospholipase D gene DOID:8398 osteoarthritis ISO RGD:735197 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:20722027|REF_RGD_ID:10412653 11839516 NAPEPLD N-acyl phosphatidylethanolamine phospholipase D gene DOID:9000039 Spinal Cord Injuries ISO RGD:735197 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:18930143|REF_RGD_ID:2316199 11839516 NAPEPLD N-acyl phosphatidylethanolamine phospholipase D gene DOID:9007548 Leukoencephalomyelopathy ISO RGD:12345339 D RGD:9068941 20210604 OMIA Leukoencephalomyelopathy PMID:1429164|PMID:14510327|PMID:18371035|PMID:23531239|PMID:23690496|PMID:2735894|PMID:29643404|PMID:3727341|PMID:6730216|PMID:8434139|PMID:886368 11839531 S100Z S100 calcium binding protein Z gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1348648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 11839531 S100Z S100 calcium binding protein Z gene DOID:630 genetic disease ISO RGD:1348648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11839531 S100Z S100 calcium binding protein Z gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11839535 BEX1 brain expressed X-linked 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11839535 BEX1 brain expressed X-linked 1 gene DOID:12849 autistic disorder ISO RGD:1343764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11839535 BEX1 brain expressed X-linked 1 gene DOID:630 genetic disease ISO RGD:1343764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11839542 SMOC1 SPARC related modular calcium binding 1 gene DOID:0060861 microphthalmia with limb anomalies ISO RGD:1348217 D RGD:7240710 20180130 OMIM 11839542 SMOC1 SPARC related modular calcium binding 1 gene DOID:0060861 microphthalmia with limb anomalies ISO RGD:1348217 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microphthalmia with limb anomalies PMID:19208380|PMID:21194678|PMID:21194680|PMID:23646827|PMID:25741868|PMID:28085523|PMID:28492532 11839542 SMOC1 SPARC related modular calcium binding 1 gene DOID:630 genetic disease ISO RGD:1348217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11839542 SMOC1 SPARC related modular calcium binding 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11839567 FGD6 FYVE, RhoGEF and PH domain containing 6 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:1319292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27089177 11839567 FGD6 FYVE, RhoGEF and PH domain containing 6 gene DOID:1790 malignant mesothelioma ISO RGD:1319292 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 11839567 FGD6 FYVE, RhoGEF and PH domain containing 6 gene DOID:630 genetic disease ISO RGD:1319292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11839596 SAYSD1 SAYSVFN motif domain containing 1 gene DOID:630 genetic disease ISO RGD:1322030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11839603 LOC100994763 cytochrome c oxidase subunit 6C gene DOID:0111590 Cohen syndrome ISO RGD:736850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 11839603 LOC100994763 cytochrome c oxidase subunit 6C gene DOID:630 genetic disease ISO RGD:736850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11839614 GGA3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 gene DOID:0080392 nephrotic syndrome type 17 ISO RGD:1319955 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 17 PMID:25741868|PMID:28492532|PMID:30179222 11839614 GGA3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 gene DOID:0111497 combined oxidative phosphorylation deficiency 34 ISO RGD:1319955 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 34 PMID:25741868|PMID:28492532 11839614 GGA3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 gene DOID:630 genetic disease ISO RGD:1319955 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11839638 DYNAP dynactin associated protein gene DOID:1059 intellectual disability ISO RGD:1344523 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11839638 DYNAP dynactin associated protein gene DOID:630 genetic disease ISO RGD:1344523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11839643 PCDH9 protocadherin 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1314916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18252227 11839643 PCDH9 protocadherin 9 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1314916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11839643 PCDH9 protocadherin 9 gene DOID:630 genetic disease ISO RGD:1314916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11839707 RASGRP3 RAS guanyl releasing protein 3 gene DOID:10763 hypertension ISO RGD:1312152 D RGD:9068941 20200609 RGD PMID:19421330|REF_RGD_ID:2314812 11839707 RASGRP3 RAS guanyl releasing protein 3 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1312152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:26614431 11839707 RASGRP3 RAS guanyl releasing protein 3 gene DOID:630 genetic disease ISO RGD:1312152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11839707 RASGRP3 RAS guanyl releasing protein 3 gene DOID:9074 systemic lupus erythematosus ISO RGD:1312152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838193 11839740 TRMT44 tRNA methyltransferase 44 homolog gene DOID:630 genetic disease ISO RGD:1602178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11839755 DPPA5 developmental pluripotency associated 5 gene DOID:10487 Hirschsprung's disease ISO RGD:1344123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 11839755 DPPA5 developmental pluripotency associated 5 gene DOID:3659 sialuria ISO RGD:1344123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 11839755 DPPA5 developmental pluripotency associated 5 gene DOID:630 genetic disease ISO RGD:1344123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11839762 GRIP1 glutamate receptor interacting protein 1 gene DOID:0060642 recessive dystrophic epidermolysis bullosa ISO RGD:733446 D RGD:9068941 20220825 MouseDO OMIM:226600 11839762 GRIP1 glutamate receptor interacting protein 1 gene DOID:0090001 Fraser syndrome ISO RGD:733446 D RGD:9068941 20220825 MouseDO OMIM:219000 11839762 GRIP1 glutamate receptor interacting protein 1 gene DOID:0111405 Fraser syndrome 1 ISO RGD:1345662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 1 PMID:25741868|PMID:28492532 11839762 GRIP1 glutamate receptor interacting protein 1 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1345662 D RGD:7240710 20190315 OMIM 11839762 GRIP1 glutamate receptor interacting protein 1 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1345662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 PMID:21383172|PMID:22510445|PMID:24033266|PMID:25741868|PMID:26539891|PMID:28492532 11839762 GRIP1 glutamate receptor interacting protein 1 gene DOID:1059 intellectual disability ISO RGD:1345662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21383172|PMID:24033266|PMID:25741868|PMID:28492532 11839762 GRIP1 glutamate receptor interacting protein 1 gene DOID:10907 microcephaly ISO RGD:1345662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11839762 GRIP1 glutamate receptor interacting protein 1 gene DOID:11836 clubfoot ISO RGD:733446 D RGD:9068941 20220825 MouseDO OMIM:119800 11839762 GRIP1 glutamate receptor interacting protein 1 gene DOID:630 genetic disease ISO RGD:1345662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11839800 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:0080070 mucolipidosis II alpha/beta ISO RGD:1603959 D RGD:7240710 20180130 OMIM 11839800 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:0080070 mucolipidosis II alpha/beta ISO RGD:1603959 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type II PMID:15633164|PMID:16116615|PMID:16199547|PMID:16200072|PMID:16465621|PMID:16630736|PMID:17034777|PMID:17576681|PMID:18190596|PMID:19197337|PMID:19617216|PMID:19634183|PMID:19659762|PMID:19938078|PMID:20147709|PMID:20301728|PMID:20301730|PMID:20886637|PMID:20944643|PMID:21416587|PMID:21549105|PMID:22495880|PMID:23192343|PMID:23227064|PMID:23566849|PMID:23773965|PMID:23926388|PMID:24033266|PMID:24045841|PMID:24060719|PMID:24375680|PMID:24550498|PMID:24767253|PMID:24798265|PMID:24807205|PMID:25107912|PMID:25473036|PMID:25505245|PMID:25525159|PMID:25741868|PMID:25788519|PMID:26130485|PMID:26274329|PMID:26633542|PMID:27180337|PMID:27239697|PMID:27662472|PMID:27710913|PMID:28095893|PMID:28396763|PMID:28492532|PMID:28649523|PMID:28918368|PMID:29140481|PMID:29704188|PMID:29872134|PMID:29966168|PMID:30105123|PMID:30208878|PMID:30882951|PMID:31003007|PMID:31130284|PMID:31319225|PMID:31405983|PMID:31579991|PMID:31603145|PMID:31795562|PMID:31934135|PMID:32014045|PMID:32651481|PMID:32746448|PMID:32860008|PMID:34008892|PMID:9536098 11839800 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:0080071 mucolipidosis III alpha/beta ISO RGD:1603959 D RGD:7240710 20180130 OMIM 11839800 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:0080071 mucolipidosis III alpha/beta ISO RGD:1603959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucolipidosis, Type III Alpha/Beta | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy PMID:15633164|PMID:16094673|PMID:16116615|PMID:16199547|PMID:16200072|PMID:16465621|PMID:16630736|PMID:17576681|PMID:18190596|PMID:19197337|PMID:19617216|PMID:19634183|PMID:19659762|PMID:19938078|PMID:20147709|PMID:20301728|PMID:20886637|PMID:20944643|PMID:21416587|PMID:21549105|PMID:23192343|PMID:23227064|PMID:23566849|PMID:23926388|PMID:24045841|PMID:24375680|PMID:24550498|PMID:24767253|PMID:25107912|PMID:25505245|PMID:25525159|PMID:25741868|PMID:25788519|PMID:26130485|PMID:26633542|PMID:26749367|PMID:27180337|PMID:27662472|PMID:27710913|PMID:28095893|PMID:28492532|PMID:28649523|PMID:28918368|PMID:29704188|PMID:29872134|PMID:30208878|PMID:30882951|PMID:31579991|PMID:31934135|PMID:9536098 11839800 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:0080488 mucolipidosis ISO RGD:1603959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucolipidosis PMID:15633164|PMID:16116615|PMID:16199547|PMID:16200072|PMID:16465621|PMID:16630736|PMID:17576681|PMID:19197337|PMID:19617216|PMID:19634183|PMID:20301728|PMID:21416587|PMID:21549105|PMID:22495880|PMID:22570975|PMID:23227064|PMID:23566849|PMID:23773965|PMID:23926388|PMID:24033266|PMID:24045841|PMID:24375680|PMID:24798265|PMID:25107912|PMID:25505245|PMID:25525159|PMID:25741868|PMID:25788519|PMID:27662472|PMID:28095893|PMID:28396763|PMID:28492532|PMID:29704188|PMID:29872134|PMID:30105123|PMID:30208878|PMID:30882951|PMID:31130284|PMID:31579991|PMID:31934135|PMID:32651481|PMID:9536098 11839800 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1603959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:16465621|PMID:17576681|PMID:19617216|PMID:19938078|PMID:20301728|PMID:23192343|PMID:24045841|PMID:24550498|PMID:25107912|PMID:25505245|PMID:25741868|PMID:28492532|PMID:34008892|PMID:9536098 11839800 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:14415 Legg-Calve-Perthes disease ISO RGD:1603959 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Legg-Calve-Perthes disease PMID:19617216|PMID:20301728|PMID:23566849|PMID:25505245|PMID:25741868|PMID:25788519|PMID:28492532 11839800 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:3343 glycoproteinosis ISO RGD:1603959 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy PMID:15633164|PMID:16094673|PMID:16116615|PMID:16200072|PMID:16465621|PMID:16630736|PMID:17576681|PMID:18190596|PMID:19197337|PMID:19617216|PMID:19634183|PMID:19659762|PMID:19938078|PMID:20147709|PMID:20301728|PMID:20886637|PMID:20944643|PMID:21416587|PMID:21549105|PMID:23192343|PMID:23566849|PMID:23926388|PMID:24045841|PMID:24375680|PMID:24550498|PMID:24767253|PMID:25107912|PMID:25505245|PMID:25525159|PMID:25741868|PMID:25788519|PMID:26130485|PMID:26749367|PMID:27180337|PMID:27662472|PMID:27710913|PMID:28095893|PMID:28492532|PMID:28649523|PMID:29704188|PMID:29872134|PMID:30208878|PMID:30882951|PMID:31579991|PMID:31934135|PMID:9536098 11839800 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:3343 glycoproteinosis ISO RGD:1603959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy PMID:15633164|PMID:16094673|PMID:16116615|PMID:16199547|PMID:16200072|PMID:16465621|PMID:16630736|PMID:17576681|PMID:18190596|PMID:19197337|PMID:19617216|PMID:19634183|PMID:19659762|PMID:19938078|PMID:20147709|PMID:20301728|PMID:20886637|PMID:20944643|PMID:21416587|PMID:21549105|PMID:23192343|PMID:23227064|PMID:23566849|PMID:23926388|PMID:24045841|PMID:24375680|PMID:24550498|PMID:24767253|PMID:25107912|PMID:25505245|PMID:25525159|PMID:25741868|PMID:25788519|PMID:26130485|PMID:26633542|PMID:26749367|PMID:27180337|PMID:27662472|PMID:27710913|PMID:28095893|PMID:28492532|PMID:28649523|PMID:28918368|PMID:29704188|PMID:29872134|PMID:30208878|PMID:30882951|PMID:31579991|PMID:31934135|PMID:9536098 11839800 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:630 genetic disease ISO RGD:1603959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16465621|PMID:17576681|PMID:19617216|PMID:25107912|PMID:25741868|PMID:26130485|PMID:28492532|PMID:30882951|PMID:9536098 11839800 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:9004041 Mucolipidosis III Alpha Beta, Atypical ISO RGD:1603959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucolipidosis III alpha/beta, atypical PMID:15633164|PMID:17576681|PMID:28492532|PMID:9536098 11839824 AMACR alpha-methylacyl-CoA racemase gene DOID:0050632 oculocutaneous albinism ISO RGD:735888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:25741868|PMID:28492532 11839824 AMACR alpha-methylacyl-CoA racemase gene DOID:0050952 spastic ataxia ISO RGD:735888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 11839824 AMACR alpha-methylacyl-CoA racemase gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:735888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:20818383|PMID:25741868|PMID:28492532 11839824 AMACR alpha-methylacyl-CoA racemase gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:735888 D RGD:7240710 20180130 OMIM 11839824 AMACR alpha-methylacyl-CoA racemase gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:735888 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:10655068|PMID:12438241|PMID:12512044|PMID:15249642|PMID:16199547|PMID:17576681|PMID:18032455|PMID:20558530|PMID:20818383|PMID:20821052|PMID:21576695|PMID:21686617|PMID:23286897|PMID:25133958|PMID:25741868|PMID:28492532|PMID:30369941|PMID:34440436|PMID:9536098 11839824 AMACR alpha-methylacyl-CoA racemase gene DOID:0111068 congenital bile acid synthesis defect 4 ISO RGD:735888 D RGD:7240710 20180130 OMIM 11839824 AMACR alpha-methylacyl-CoA racemase gene DOID:0111068 congenital bile acid synthesis defect 4 ISO RGD:735888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 PMID:10655068|PMID:12512044|PMID:15249642|PMID:18032455|PMID:20818383|PMID:20821052|PMID:21576695|PMID:21686617|PMID:25741868|PMID:28492532|PMID:30369941|PMID:9584266 11839824 AMACR alpha-methylacyl-CoA racemase gene DOID:11054 urinary bladder cancer severity ISO RGD:735888 D RGD:9068941 20200609 RGD PMID:18648853|REF_RGD_ID:2315629 11839824 AMACR alpha-methylacyl-CoA racemase gene DOID:1826 epilepsy ISO RGD:735888 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11839824 AMACR alpha-methylacyl-CoA racemase gene DOID:2477 motor peripheral neuropathy ISO RGD:735888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10655068 11839824 AMACR alpha-methylacyl-CoA racemase gene DOID:3459 breast carcinoma severity ISO RGD:735888 D RGD:9068941 20200609 RGD PMID:15941950|REF_RGD_ID:2315635 11839824 AMACR alpha-methylacyl-CoA racemase gene DOID:409 liver disease ISO RGD:735888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12512044 11839824 AMACR alpha-methylacyl-CoA racemase gene DOID:4450 renal cell carcinoma ISO RGD:735888 D RGD:9068941 20200609 RGD PMID:14707866|REF_RGD_ID:2315633 11839824 AMACR alpha-methylacyl-CoA racemase gene DOID:630 genetic disease ISO RGD:735888 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11839824 AMACR alpha-methylacyl-CoA racemase gene DOID:657 adenoma ISO RGD:735888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17684125 11839824 AMACR alpha-methylacyl-CoA racemase gene DOID:8634 prostate carcinoma in situ disease_progression ISO RGD:735888 D RGD:9068941 20200609 RGD PMID:18343427|REF_RGD_ID:2315630 11839824 AMACR alpha-methylacyl-CoA racemase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 11839824 AMACR alpha-methylacyl-CoA racemase gene DOID:9002304 Prostatic Neoplasms ISO RGD:735888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17173048|PMID:22919386|PMID:24763052 11839824 AMACR alpha-methylacyl-CoA racemase gene DOID:9002304 Prostatic Neoplasms ISO RGD:735888 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland PMID:20003233|REF_RGD_ID:2315628 11839824 AMACR alpha-methylacyl-CoA racemase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11839824 AMACR alpha-methylacyl-CoA racemase gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:735888 D RGD:9068941 20200609 RGD PMID:16315020|REF_RGD_ID:2315632 11839824 AMACR alpha-methylacyl-CoA racemase gene DOID:9008443 Colorectal Neoplasms ISO RGD:735888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17684125 11839863 MYT1L myelin transcription factor 1 like gene DOID:0060041 autism spectrum disorder ISO RGD:731726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11839863 MYT1L myelin transcription factor 1 like gene DOID:0070069 autosomal dominant intellectual developmental disorder 39 ISO RGD:731726 D RGD:7240710 20180130 OMIM 11839863 MYT1L myelin transcription factor 1 like gene DOID:0070069 autosomal dominant intellectual developmental disorder 39 ISO RGD:731726 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 39 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39, AND OBESITY PMID:23033978|PMID:25232846|PMID:25741868|PMID:28492532|PMID:28859103|PMID:30055078|PMID:30796847|PMID:33622623 11839863 MYT1L myelin transcription factor 1 like gene DOID:1059 intellectual disability ISO RGD:731726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28859103|PMID:30055078 11839863 MYT1L myelin transcription factor 1 like gene DOID:12849 autistic disorder ISO RGD:731726 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 11839863 MYT1L myelin transcription factor 1 like gene DOID:630 genetic disease ISO RGD:731726 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11839863 MYT1L myelin transcription factor 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11839916 TBRG4 transforming growth factor beta regulator 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11839916 TBRG4 transforming growth factor beta regulator 4 gene DOID:630 genetic disease ISO RGD:1320236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11839947 MRPL17 mitochondrial ribosomal protein L17 gene DOID:630 genetic disease ISO RGD:1351017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11839979 BICDL1 BICD family like cargo adaptor 1 gene DOID:630 genetic disease ISO RGD:1603186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11840006 ZBTB8OS zinc finger and BTB domain containing 8 opposite strand gene DOID:0060071 pre-malignant neoplasm ISO RGD:1603245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11840006 ZBTB8OS zinc finger and BTB domain containing 8 opposite strand gene DOID:630 genetic disease ISO RGD:1603245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11840053 PRPF8 pre-mRNA processing factor 8 gene DOID:0060673 Peters anomaly ISO RGD:1313510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:26893459 11840053 PRPF8 pre-mRNA processing factor 8 gene DOID:0110381 retinitis pigmentosa 14 ISO RGD:1313510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 14 11840053 PRPF8 pre-mRNA processing factor 8 gene DOID:0110403 retinitis pigmentosa 13 ISO RGD:1313510 D RGD:7240710 20180130 OMIM 11840053 PRPF8 pre-mRNA processing factor 8 gene DOID:0110403 retinitis pigmentosa 13 ISO RGD:1313510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 13 PMID:11468273|PMID:11910553|PMID:12714658|PMID:16799052|PMID:17061239|PMID:17576681|PMID:18695108|PMID:20232351|PMID:21378395|PMID:22039234|PMID:23484092|PMID:23950152|PMID:24938718|PMID:25741868|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28515276|PMID:29087248|PMID:30360737|PMID:31725702|PMID:32424050|PMID:33576794|PMID:9536098 11840053 PRPF8 pre-mRNA processing factor 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1313510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11468273|PMID:12714658|PMID:16799052|PMID:17576681|PMID:21378395|PMID:24938718|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28515276|PMID:30718709|PMID:31725702|PMID:9536098 11840053 PRPF8 pre-mRNA processing factor 8 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11840053 PRPF8 pre-mRNA processing factor 8 gene DOID:630 genetic disease ISO RGD:1313510 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19344873|PMID:27535533|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28798898|PMID:33157387|PMID:33598457|PMID:33781268|PMID:34321860 11840053 PRPF8 pre-mRNA processing factor 8 gene DOID:8501 fundus dystrophy ISO RGD:1313510 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11468273|PMID:11910553|PMID:12714658|PMID:16799052|PMID:17061239|PMID:18695108|PMID:20232351|PMID:21378395|PMID:23950152|PMID:24938718|PMID:25741868|PMID:27208204|PMID:28076437|PMID:28492532|PMID:28515276|PMID:28559085|PMID:28761320|PMID:28798898|PMID:33157387|PMID:33576794|PMID:33598457|PMID:33781268|PMID:34321860 11840053 PRPF8 pre-mRNA processing factor 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 11840053 PRPF8 pre-mRNA processing factor 8 gene DOID:9007096 Stroke ISO RGD:1313510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 11840053 PRPF8 pre-mRNA processing factor 8 gene DOID:9008582 Developmental Disease ISO RGD:1313510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11840101 MEST mesoderm specific transcript gene DOID:0050476 Barth syndrome ISO RGD:1621604 D RGD:9068941 20220825 MouseDO OMIM:302060 11840101 MEST mesoderm specific transcript gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11840101 MEST mesoderm specific transcript gene DOID:630 genetic disease ISO RGD:1345318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11840101 MEST mesoderm specific transcript gene DOID:9004657 Weight Gain ISO RGD:1345318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11840101 MEST mesoderm specific transcript gene DOID:9007491 Childhood Schizophrenia ISO RGD:1345318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 11840125 COMMD8 COMM domain containing 8 gene DOID:630 genetic disease ISO RGD:1313413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11840134 LYG2 lysozyme g2 gene DOID:630 genetic disease ISO RGD:1603530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11840145 DLGAP2 DLG associated protein 2 gene DOID:12849 autistic disorder ISO RGD:1345358 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20531469 11840145 DLGAP2 DLG associated protein 2 gene DOID:5419 schizophrenia ISO RGD:1345358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11840145 DLGAP2 DLG associated protein 2 gene DOID:630 genetic disease ISO RGD:1345358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11840163 SLC25A45 solute carrier family 25 member 45 gene DOID:1059 intellectual disability ISO RGD:1604185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11840163 SLC25A45 solute carrier family 25 member 45 gene DOID:1909 melanoma ISO RGD:1604185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11840163 SLC25A45 solute carrier family 25 member 45 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11840163 SLC25A45 solute carrier family 25 member 45 gene DOID:2746 glycogen storage disease V ISO RGD:1604185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11840163 SLC25A45 solute carrier family 25 member 45 gene DOID:3070 high grade glioma ISO RGD:1604185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11840163 SLC25A45 solute carrier family 25 member 45 gene DOID:630 genetic disease ISO RGD:1604185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11840163 SLC25A45 solute carrier family 25 member 45 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1604185 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11840163 SLC25A45 solute carrier family 25 member 45 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1604185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11840196 AMELY amelogenin Y-linked gene DOID:0090109 autosomal dominant hypocalcemia ISO RGD:2107 D RGD:9068941 20200609 RGD PMID:15721149|REF_RGD_ID:1599092 11840196 AMELY amelogenin Y-linked gene DOID:0110058 amelogenesis imperfecta type 1E ISO RGD:735380 D RGD:9068941 20230511 MouseDO OMIM:301200 11840196 AMELY amelogenin Y-linked gene DOID:12336 male infertility ISO RGD:1343944 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Male infertility 11840196 AMELY amelogenin Y-linked gene DOID:12849 autistic disorder ISO RGD:1343944 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11840196 AMELY amelogenin Y-linked gene DOID:5119 ovarian cyst ISO RGD:1343944 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 11840209 TACC2 transforming acidic coiled-coil containing protein 2 gene DOID:2340 craniosynostosis ISO RGD:1349981 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 11840209 TACC2 transforming acidic coiled-coil containing protein 2 gene DOID:630 genetic disease ISO RGD:1349981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11840246 PUS7 pseudouridine synthase 7 gene DOID:0081265 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature ISO RGD:1603643 D RGD:7240710 20190315 OMIM 11840246 PUS7 pseudouridine synthase 7 gene DOID:0081265 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature ISO RGD:1603643 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature PMID:25741868|PMID:28492532|PMID:30526862|PMID:30778726|PMID:35144859 11840246 PUS7 pseudouridine synthase 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11840246 PUS7 pseudouridine synthase 7 gene DOID:630 genetic disease ISO RGD:1603643 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:35144859 11840271 TSPAN6 tetraspanin 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11840271 TSPAN6 tetraspanin 6 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1347181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:21053371|PMID:23712037|PMID:27179713|PMID:28492532|PMID:29377098 11840271 TSPAN6 tetraspanin 6 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1347181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 11840271 TSPAN6 tetraspanin 6 gene DOID:12849 autistic disorder ISO RGD:1347181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11840271 TSPAN6 tetraspanin 6 gene DOID:630 genetic disease ISO RGD:1347181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11840297 KTN1 kinectin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11840352 ANXA2R annexin A2 receptor gene DOID:11054 urinary bladder cancer ISO RGD:1605501 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 11840352 ANXA2R annexin A2 receptor gene DOID:630 genetic disease ISO RGD:1605501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11840352 ANXA2R annexin A2 receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11840357 RNF44 ring finger protein 44 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1316271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11840357 RNF44 ring finger protein 44 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1316271 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11840357 RNF44 ring finger protein 44 gene DOID:630 genetic disease ISO RGD:1316271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11840357 RNF44 ring finger protein 44 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1316271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11840357 RNF44 ring finger protein 44 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1316271 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 11840372 LOC100986844 spondin-2 gene DOID:1856 cherubism ISO RGD:1352786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11840372 LOC100986844 spondin-2 gene DOID:630 genetic disease ISO RGD:1352786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11840372 LOC100986844 spondin-2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 11840372 LOC100986844 spondin-2 gene DOID:9002514 Neointima ISO RGD:708584 D RGD:9068941 20230427 RGD PMID:25751394|REF_RGD_ID:329328927 11840372 LOC100986844 spondin-2 gene DOID:9002514 Neointima ISO RGD:731918 D RGD:9068941 20230427 RGD PMID:25751394|REF_RGD_ID:329328927 11840372 LOC100986844 spondin-2 gene DOID:9006182 Carotid Artery Injuries ISO RGD:731918 D RGD:9068941 20230427 RGD protein:decreased expression:vascular smooth muscle cell carotid artery (mouse) PMID:25751394|REF_RGD_ID:329328927 11840381 MCHR2 melanin concentrating hormone receptor 2 gene DOID:630 genetic disease ISO RGD:1347761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11840415 MED8 mediator complex subunit 8 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1313646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11840415 MED8 mediator complex subunit 8 gene DOID:630 genetic disease ISO RGD:1313646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11840435 TOX3 TOX high mobility group box family member 3 gene DOID:630 genetic disease ISO RGD:1323035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11840435 TOX3 TOX high mobility group box family member 3 gene DOID:9000357 Male Breast Neoplasms ISO RGD:1323035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23001122 11840435 TOX3 TOX high mobility group box family member 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1323035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 11840435 TOX3 TOX high mobility group box family member 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1323035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17529967 11840462 ASGR2 asialoglycoprotein receptor 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1343618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11840462 ASGR2 asialoglycoprotein receptor 2 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1343618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 11840462 ASGR2 asialoglycoprotein receptor 2 gene DOID:0080600 COVID-19 ISO RGD:1343618 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11840462 ASGR2 asialoglycoprotein receptor 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1343618 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11840462 ASGR2 asialoglycoprotein receptor 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1343618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11840462 ASGR2 asialoglycoprotein receptor 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1343618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11840462 ASGR2 asialoglycoprotein receptor 2 gene DOID:630 genetic disease ISO RGD:1343618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11840489 DUS4L dihydrouridine synthase 4 like gene DOID:0070261 congenital disorder of glycosylation type IIi ISO RGD:1602492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COG5-CDG PMID:23228021|PMID:25741868|PMID:28492532 11840489 DUS4L dihydrouridine synthase 4 like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11840489 DUS4L dihydrouridine synthase 4 like gene DOID:5212 congenital disorder of glycosylation ISO RGD:1602492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 11840489 DUS4L dihydrouridine synthase 4 like gene DOID:630 genetic disease ISO RGD:1602492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11840516 CFB complement factor B gene DOID:0050127 sinusitis ISO RGD:1350557 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:14510109|REF_RGD_ID:7411729 11840516 CFB complement factor B gene DOID:0050553 JMP syndrome ISO RGD:1350557 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11840516 CFB complement factor B gene DOID:0060295 complement component 2 deficiency ISO RGD:1350557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: C2 deficiency | ClinVar Annotator: match by term: Complement component 2 deficiency PMID:16518403|PMID:16936732|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:23847193|PMID:24033266|PMID:24652797|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962 11840516 CFB complement factor B gene DOID:0080162 lupus nephritis ISO RGD:10236 D RGD:9068941 20200609 RGD PMID:10623824|PMID:3183062|REF_RGD_ID:7242736|REF_RGD_ID:7242763 11840516 CFB complement factor B gene DOID:0080162 lupus nephritis ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:21893562|REF_RGD_ID:7242755 11840516 CFB complement factor B gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1350557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:16518403|PMID:16936732|PMID:17182750|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:23847193|PMID:24033266|PMID:24652797|PMID:25741868|PMID:26054779|PMID:28492532|PMID:6308626|PMID:7452889|PMID:8181962 11840516 CFB complement factor B gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1350557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:1577763|PMID:16199547|PMID:16518403|PMID:16936732|PMID:17182750|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:23847193|PMID:24033266|PMID:24652797|PMID:25741868|PMID:26054779|PMID:26283675|PMID:26826462|PMID:27268256|PMID:27870017|PMID:28461395|PMID:28492532|PMID:28682564|PMID:29148534|PMID:29563339|PMID:34169201|PMID:34177949|PMID:6308626|PMID:7452889|PMID:8181962|PMID:9616367 11840516 CFB complement factor B gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1350557 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:15661753|PMID:1577763|PMID:16199547|PMID:16518403|PMID:16936732|PMID:17182750|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:23847193|PMID:24033266|PMID:24652797|PMID:25741868|PMID:26054779|PMID:26283675|PMID:26826462|PMID:27268256|PMID:27870017|PMID:28461395|PMID:28492532|PMID:28682564|PMID:29148534|PMID:29563339|PMID:34169201|PMID:34177949|PMID:6308626|PMID:7452889|PMID:8181962|PMID:9616367 11840516 CFB complement factor B gene DOID:0080301 atypical hemolytic-uremic syndrome susceptibility ISO RGD:1350557 D RGD:7240710 20230517 OMIM 11840516 CFB complement factor B gene DOID:0080322 polycystic kidney disease treatment ISO RGD:10236 D RGD:9068941 20200609 RGD PMID:24494798|REF_RGD_ID:8661641 11840516 CFB complement factor B gene DOID:0080322 polycystic kidney disease treatment ISO RGD:2204 D RGD:9068941 20200609 RGD PMID:24494798|REF_RGD_ID:8661641 11840516 CFB complement factor B gene DOID:0080750 erythema nodosum ISO RGD:1350557 D RGD:9068941 20200609 RGD associated with Leprosy PMID:2783924|REF_RGD_ID:7421527 11840516 CFB complement factor B gene DOID:0110019 age related macular degeneration 7 no_association ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L9H, p.R32L (rs4151667, rs641153) (human) PMID:19899988|REF_RGD_ID:7401252 11840516 CFB complement factor B gene DOID:0110026 age related macular degeneration 14 ISO RGD:1350557 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 14 PMID:16518403|PMID:16936732|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:24033266|PMID:24652797|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962 11840516 CFB complement factor B gene DOID:0110026 age related macular degeneration 14 susceptibility ISO RGD:1350557 D RGD:7240710 20230517 OMIM 11840516 CFB complement factor B gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1350557 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:16518403|PMID:16936732|PMID:18806293|PMID:21541267|PMID:2249879|PMID:24033266|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962 11840516 CFB complement factor B gene DOID:10754 otitis media ISO RGD:10236 D RGD:9068941 20200609 RGD associated with Pneumococcal Infections PMID:20065024|REF_RGD_ID:7411716 11840516 CFB complement factor B gene DOID:10887 lepromatous leprosy severity ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:6342123|REF_RGD_ID:7411735 11840516 CFB complement factor B gene DOID:10923 sickle cell anemia ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:10440069|REF_RGD_ID:11041159 11840516 CFB complement factor B gene DOID:10923 sickle cell anemia ISO RGD:1350557 D RGD:9068941 20200609 RGD protein:decreased activity PMID:12793071|REF_RGD_ID:11041160 11840516 CFB complement factor B gene DOID:10976 membranous glomerulonephritis susceptibility ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:3272818|REF_RGD_ID:7242764 11840516 CFB complement factor B gene DOID:11400 pyelonephritis ISO RGD:1350557 D RGD:9068941 20200609 RGD associated with pregnancy complications;protein:increased activity:plasma PMID:20218820|REF_RGD_ID:7242756 11840516 CFB complement factor B gene DOID:12134 factor VIII deficiency ISO RGD:1350557 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:6912882|REF_RGD_ID:11041156 11840516 CFB complement factor B gene DOID:12241 beta thalassemia ISO RGD:1350557 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:6914868|REF_RGD_ID:11041572 11840516 CFB complement factor B gene DOID:1227 neutropenia ISO RGD:1350557 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 11840516 CFB complement factor B gene DOID:12662 paracoccidioidomycosis ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:7921333|REF_RGD_ID:7421526 11840516 CFB complement factor B gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1350557 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:16518403|PMID:16936732|PMID:18806293|PMID:21541267|PMID:2249879|PMID:24033266|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962 11840516 CFB complement factor B gene DOID:13241 Behcet's disease ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:6900632|REF_RGD_ID:7411737 11840516 CFB complement factor B gene DOID:1407 anterior uveitis ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:6610667|REF_RGD_ID:7411736 11840516 CFB complement factor B gene DOID:1407 anterior uveitis ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:SNP: :rs1048709 (human) PMID:22714898|REF_RGD_ID:7411695 11840516 CFB complement factor B gene DOID:1407 anterior uveitis no_association ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:SNP: :rs537160, rs4151657, rs2072633 (human) PMID:22714898|REF_RGD_ID:7411695 11840516 CFB complement factor B gene DOID:14095 boutonneuse fever ISO RGD:1350557 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:3361150|REF_RGD_ID:11041575 11840516 CFB complement factor B gene DOID:1612 breast cancer treatment ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:15274022|REF_RGD_ID:7411730 11840516 CFB complement factor B gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:10236 D RGD:9068941 20200609 RGD PMID:12091909|REF_RGD_ID:734771 11840516 CFB complement factor B gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:2329415|REF_RGD_ID:7242760 11840516 CFB complement factor B gene DOID:2986 IgA glomerulonephritis ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:3118258|REF_RGD_ID:7242754 11840516 CFB complement factor B gene DOID:2986 IgA glomerulonephritis ISO RGD:1350557 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:8567024|REF_RGD_ID:7242737 11840516 CFB complement factor B gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:1350557 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17385664|REF_RGD_ID:7242759 11840516 CFB complement factor B gene DOID:418 systemic scleroderma ISO RGD:1350557 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:2803327|REF_RGD_ID:7421518 11840516 CFB complement factor B gene DOID:437 myasthenia gravis ISO RGD:1350557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6605118 11840516 CFB complement factor B gene DOID:4448 macular degeneration ISO RGD:1350557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:1577763|PMID:16199547|PMID:16518403|PMID:16936732|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:23847193|PMID:24033266|PMID:24652797|PMID:25741868|PMID:26054779|PMID:26283675|PMID:26826462|PMID:27268256|PMID:27870017|PMID:28461395|PMID:28492532|PMID:28682564|PMID:29148534|PMID:29563339|PMID:34169201|PMID:34177949|PMID:6308626|PMID:8181962|PMID:9616367 11840516 CFB complement factor B gene DOID:4448 macular degeneration no_association ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:18806293|REF_RGD_ID:7411713 11840516 CFB complement factor B gene DOID:4448 macular degeneration no_association ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L9H, p.R32Q (rs4151667, rs641153) (human) PMID:22273503|REF_RGD_ID:7411731 11840516 CFB complement factor B gene DOID:4448 macular degeneration susceptibility ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:snp:intron:c.1169-69T>C (rs541862) (human) PMID:22232432|REF_RGD_ID:7411694 11840516 CFB complement factor B gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:10236 D RGD:9068941 20200609 RGD PMID:22492944|REF_RGD_ID:7242700 11840516 CFB complement factor B gene DOID:557 kidney disease ISO RGD:1350557 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:23847193|PMID:24652797|PMID:25741868|PMID:28492532 11840516 CFB complement factor B gene DOID:6195 conjunctivitis ISO RGD:1350557 D RGD:9068941 20200609 RGD protein:increased expression:tear PMID:3875643|REF_RGD_ID:7421524 11840516 CFB complement factor B gene DOID:630 genetic disease ISO RGD:1350557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11840516 CFB complement factor B gene DOID:783 end stage renal disease ISO RGD:10236 D RGD:9068941 20200609 RGD PMID:17522263|REF_RGD_ID:7242704 11840516 CFB complement factor B gene DOID:783 end stage renal disease severity ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:1837062|REF_RGD_ID:7242753 11840516 CFB complement factor B gene DOID:8466 retinal degeneration treatment ISO RGD:2204 D RGD:9068941 20200609 RGD PMID:21467172|REF_RGD_ID:7364947 11840516 CFB complement factor B gene DOID:8506 bullous pemphigoid ISO RGD:10236 D RGD:9068941 20200609 RGD PMID:17024247|REF_RGD_ID:7421522 11840516 CFB complement factor B gene DOID:8577 ulcerative colitis ISO RGD:1350557 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 11840516 CFB complement factor B gene DOID:8893 psoriasis ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:6559061|REF_RGD_ID:7411727 11840516 CFB complement factor B gene DOID:8893 psoriasis no_association ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:2609873|REF_RGD_ID:7421520 11840516 CFB complement factor B gene DOID:8947 diabetic retinopathy ISO RGD:1350557 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs1048709 (human) PMID:23864767|REF_RGD_ID:7365019 11840516 CFB complement factor B gene DOID:8947 diabetic retinopathy no_association ISO RGD:1350557 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs537160, rs4151657, rs2072633 (human) PMID:23864767|REF_RGD_ID:7365019 11840516 CFB complement factor B gene DOID:898 autosomal dominant polycystic kidney disease disease_progression ISO RGD:1350557 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:24494798|REF_RGD_ID:8661641 11840516 CFB complement factor B gene DOID:9000998 Brain Injuries ISO RGD:1350557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17474994 11840516 CFB complement factor B gene DOID:9001044 Choroidal Neovascularization ISO RGD:10236 D RGD:9068941 20200609 RGD PMID:16849499|REF_RGD_ID:7411733 11840516 CFB complement factor B gene DOID:9004484 Sepsis treatment ISO RGD:10236 D RGD:9068941 20200609 RGD PMID:24154627|REF_RGD_ID:11040886 11840516 CFB complement factor B gene DOID:9005169 Complement Factor B Deficiency ISO RGD:1350557 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Complement factor B deficiency | ClinVar Annotator: match by term: Complement factor b deficiency PMID:16518403|PMID:16936732|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:23847193|PMID:24033266|PMID:24152280|PMID:24652797|PMID:25741868|PMID:28492532 11840516 CFB complement factor B gene DOID:9005169 Complement Factor B Deficiency susceptibility ISO RGD:1350557 D RGD:7240710 20230517 OMIM 11840516 CFB complement factor B gene DOID:9005969 Refractory Anemia with Excess of Blasts disease_progression ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:9741227|REF_RGD_ID:11041158 11840516 CFB complement factor B gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10236 D RGD:9068941 20200609 RGD PMID:12538716|PMID:16467447|REF_RGD_ID:7242709|REF_RGD_ID:7242734 11840516 CFB complement factor B gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:2204 D RGD:9068941 20200609 RGD PMID:21216963|REF_RGD_ID:7411732 11840516 CFB complement factor B gene DOID:9006642 Experimental Autoimmune Uveoretinitis treatment ISO RGD:10236 D RGD:9068941 20200609 RGD PMID:20806290|REF_RGD_ID:7411717 11840516 CFB complement factor B gene DOID:9007189 Multifocal Choroiditis no_association ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L9H, p.R32Q (rs4151667, rs641153) (human) PMID:19001225|REF_RGD_ID:7411728 11840516 CFB complement factor B gene DOID:9008261 Chemically-Induced Disorders ISO RGD:1350557 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 11840516 CFB complement factor B gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis treatment ISO RGD:2204 D RGD:9068941 20200609 RGD PMID:25355917|REF_RGD_ID:11041161 11840516 CFB complement factor B gene DOID:9008366 Meningococcal Infections severity ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:3491693|REF_RGD_ID:11041157 11840516 CFB complement factor B gene DOID:9008537 Polypoidal Choroidal Vasculopathy susceptibility ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:snp:intron:c.1169-69T>C (rs541862) (human) PMID:22232432|REF_RGD_ID:7411694 11840516 CFB complement factor B gene DOID:9074 systemic lupus erythematosus ISO RGD:1350557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838195 11840516 CFB complement factor B gene DOID:9744 type 1 diabetes mellitus ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:19000152|REF_RGD_ID:2311335 11840516 CFB complement factor B gene DOID:9744 type 1 diabetes mellitus ISO RGD:1350557 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:3907907|REF_RGD_ID:2311338 11840516 CFB complement factor B gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:missense mutation:p.R32Q b(human) PMID:6958349|REF_RGD_ID:11041155 11840538 LOC100991332 olfactory receptor 1A2 gene DOID:630 genetic disease ISO RGD:1348312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11840542 EDIL3 EGF like repeats and discoidin domains 3 gene DOID:630 genetic disease ISO RGD:1343635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11840542 EDIL3 EGF like repeats and discoidin domains 3 gene DOID:8398 osteoarthritis ISO RGD:1343635 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11840542 EDIL3 EGF like repeats and discoidin domains 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11840558 RNASE11 ribonuclease A family member 11 (inactive) gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1602837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 11840558 RNASE11 ribonuclease A family member 11 (inactive) gene DOID:630 genetic disease ISO RGD:1602837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11840583 SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1603684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy PMID:25741868 11840583 SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1603684 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11840583 SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 gene DOID:1059 intellectual disability ISO RGD:1603684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11840583 SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 gene DOID:12849 autistic disorder ISO RGD:1603684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11840583 SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1603684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11840583 SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1603684 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11840583 SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11840624 TAF5 TATA-box binding protein associated factor 5 gene DOID:630 genetic disease ISO RGD:1322729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11840639 LSM12 LSM12 homolog gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1606981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 11840639 LSM12 LSM12 homolog gene DOID:630 genetic disease ISO RGD:1606981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11840648 UBXN4 UBX domain protein 4 gene DOID:0060591 WHIM syndrome 1 ISO RGD:1316650 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:28492532 11840648 UBXN4 UBX domain protein 4 gene DOID:630 genetic disease ISO RGD:1316650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11840665 MRPS23 mitochondrial ribosomal protein S23 gene DOID:0050777 Joubert syndrome ISO RGD:1315875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11840665 MRPS23 mitochondrial ribosomal protein S23 gene DOID:0112115 combined oxidative phosphorylation deficiency 46 ISO RGD:1315875 D RGD:7240710 20200812 OMIM 11840665 MRPS23 mitochondrial ribosomal protein S23 gene DOID:0112115 combined oxidative phosphorylation deficiency 46 ISO RGD:1315875 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 46 PMID:25741868|PMID:26741492 11840665 MRPS23 mitochondrial ribosomal protein S23 gene DOID:1059 intellectual disability ISO RGD:1315875 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11840665 MRPS23 mitochondrial ribosomal protein S23 gene DOID:630 genetic disease ISO RGD:1315875 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26741492|PMID:28492532 11840665 MRPS23 mitochondrial ribosomal protein S23 gene DOID:9008939 Breast Neoplasms ISO RGD:1315875 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 11840674 MMP10 matrix metallopeptidase 10 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1347586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 11840674 MMP10 matrix metallopeptidase 10 gene DOID:10588 adrenoleukodystrophy severity ISO RGD:1347586 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:23185624|REF_RGD_ID:13204814 11840674 MMP10 matrix metallopeptidase 10 gene DOID:1059 intellectual disability ISO RGD:1347586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11840674 MMP10 matrix metallopeptidase 10 gene DOID:12704 ataxia telangiectasia ISO RGD:1347586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11840674 MMP10 matrix metallopeptidase 10 gene DOID:2773 contact dermatitis ISO RGD:1347586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11840674 MMP10 matrix metallopeptidase 10 gene DOID:2841 asthma ISO RGD:1347586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16926187 11840674 MMP10 matrix metallopeptidase 10 gene DOID:630 genetic disease ISO RGD:1347586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11840674 MMP10 matrix metallopeptidase 10 gene DOID:7148 rheumatoid arthritis ISO RGD:1347586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 11840674 MMP10 matrix metallopeptidase 10 gene DOID:783 end stage renal disease ISO RGD:1347586 D RGD:9068941 20200609 RGD associated with Hypertension; protein:increased expression:plasma (human) PMID:19886850|REF_RGD_ID:7207051 11840674 MMP10 matrix metallopeptidase 10 gene DOID:9000217 Stomach Neoplasms ISO RGD:1347586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22285823 11840674 MMP10 matrix metallopeptidase 10 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1347586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22022614 11840674 MMP10 matrix metallopeptidase 10 gene DOID:9005172 Lung Neoplasms ISO RGD:1347586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22022614 11840674 MMP10 matrix metallopeptidase 10 gene DOID:9351 diabetes mellitus ISO RGD:1347586 D RGD:9068941 20200609 RGD PMID:11159210|REF_RGD_ID:8693313 11840706 CDKN2AIP CDKN2A interacting protein gene DOID:10283 prostate cancer ISO RGD:1604354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11840706 CDKN2AIP CDKN2A interacting protein gene DOID:630 genetic disease ISO RGD:1604354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11840722 GMNN geminin DNA replication inhibitor gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1317736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:11477602|PMID:14973488|PMID:26637980 11840722 GMNN geminin DNA replication inhibitor gene DOID:0080517 Meier-Gorlin syndrome 6 ISO RGD:1317736 D RGD:7240710 20190424 OMIM 11840722 GMNN geminin DNA replication inhibitor gene DOID:0080517 Meier-Gorlin syndrome 6 ISO RGD:1317736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 6 PMID:11477602|PMID:14973488|PMID:25741868|PMID:26637980 11840722 GMNN geminin DNA replication inhibitor gene DOID:630 genetic disease ISO RGD:1317736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11840722 GMNN geminin DNA replication inhibitor gene DOID:684 hepatocellular carcinoma ISO RGD:1317736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11840746 ABI3BP ABI family member 3 binding protein gene DOID:289 endometriosis ISO RGD:1349467 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11840746 ABI3BP ABI family member 3 binding protein gene DOID:630 genetic disease ISO RGD:1349467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11840836 RFK riboflavin kinase gene DOID:630 genetic disease ISO RGD:1313443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11840836 RFK riboflavin kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21308351 11840845 GTF2B general transcription factor IIB gene DOID:630 genetic disease ISO RGD:731364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11840859 SERPINB6 serpin family B member 6 gene DOID:0050439 Usher syndrome ISO RGD:1348161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:24033266|PMID:28492532|PMID:30311386 11840859 SERPINB6 serpin family B member 6 gene DOID:0110536 autosomal recessive nonsyndromic deafness 91 ISO RGD:1348161 D RGD:7240710 20180130 OMIM 11840859 SERPINB6 serpin family B member 6 gene DOID:0110536 autosomal recessive nonsyndromic deafness 91 ISO RGD:1348161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 91 PMID:17576681|PMID:20451170|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 11840859 SERPINB6 serpin family B member 6 gene DOID:630 genetic disease ISO RGD:1348161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532|PMID:30311386 11840859 SERPINB6 serpin family B member 6 gene DOID:9004538 Hearing Loss ISO RGD:1348161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 11840859 SERPINB6 serpin family B member 6 gene DOID:9004657 Weight Gain ISO RGD:1552475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11840880 BLOC1S2 biogenesis of lysosomal organelles complex 1 subunit 2 gene DOID:630 genetic disease ISO RGD:1315231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11840880 BLOC1S2 biogenesis of lysosomal organelles complex 1 subunit 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11840880 BLOC1S2 biogenesis of lysosomal organelles complex 1 subunit 2 gene DOID:9007194 Sciatica ISO RGD:1306551 D RGD:9068941 20200609 RGD PMID:16176350|REF_RGD_ID:2302154 11840892 CA5A carbonic anhydrase 5A gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1347153 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 11840892 CA5A carbonic anhydrase 5A gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1347153 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11840892 CA5A carbonic anhydrase 5A gene DOID:630 genetic disease ISO RGD:1347153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11840892 CA5A carbonic anhydrase 5A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11840892 CA5A carbonic anhydrase 5A gene DOID:9002957 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO ISO RGD:1347153 D RGD:7240710 20180130 OMIM 11840892 CA5A carbonic anhydrase 5A gene DOID:9002957 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO ISO RGD:1347153 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to PMID:17576681|PMID:24530203|PMID:25640679|PMID:25741868|PMID:25834911|PMID:26913920|PMID:28492532|PMID:31641285|PMID:32381389|PMID:33473334|PMID:9536098 11840892 CA5A carbonic anhydrase 5A gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1347153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 11840912 OSBPL8 oxysterol binding protein like 8 gene DOID:630 genetic disease ISO RGD:1348483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11840912 OSBPL8 oxysterol binding protein like 8 gene DOID:9004657 Weight Gain ISO RGD:1348483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11840947 CSTL1 cystatin like 1 gene DOID:630 genetic disease ISO RGD:1316602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11840958 TMEM140 transmembrane protein 140 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11840958 TMEM140 transmembrane protein 140 gene DOID:630 genetic disease ISO RGD:1605364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11840966 RAB18 RAB18, member RAS oncogene family gene DOID:0060237 Warburg micro syndrome ISO RGD:1318941 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Warburg micro syndrome PMID:25741868|PMID:28492532 11840966 RAB18 RAB18, member RAS oncogene family gene DOID:0110718 Warburg micro syndrome 3 ISO RGD:1318941 D RGD:7240710 20180130 OMIM 11840966 RAB18 RAB18, member RAS oncogene family gene DOID:0110718 Warburg micro syndrome 3 ISO RGD:1318941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Warburg micro syndrome 3 PMID:21473985|PMID:23420520|PMID:25741868|PMID:28492532|PMID:29300443 11840966 RAB18 RAB18, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1318941 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11840977 INO80E INO80 complex subunit E gene DOID:0060019 coronin-1A deficiency ISO RGD:1605827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11840977 INO80E INO80 complex subunit E gene DOID:0060041 autism spectrum disorder ISO RGD:1605827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 11840977 INO80E INO80 complex subunit E gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1605827 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 11840977 INO80E INO80 complex subunit E gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1605827 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 11840977 INO80E INO80 complex subunit E gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1605827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11840977 INO80E INO80 complex subunit E gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1605827 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 11840977 INO80E INO80 complex subunit E gene DOID:12849 autistic disorder ISO RGD:1605827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11840977 INO80E INO80 complex subunit E gene DOID:1882 atrial heart septal defect ISO RGD:1605827 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 11840977 INO80E INO80 complex subunit E gene DOID:5419 schizophrenia ISO RGD:1605827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11840977 INO80E INO80 complex subunit E gene DOID:630 genetic disease ISO RGD:1605827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11840977 INO80E INO80 complex subunit E gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11840977 INO80E INO80 complex subunit E gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1605827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11840977 INO80E INO80 complex subunit E gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1605827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 11841000 KCNJ15 potassium inwardly rectifying channel subfamily J member 15 gene DOID:1826 epilepsy ISO RGD:731050 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11841000 KCNJ15 potassium inwardly rectifying channel subfamily J member 15 gene DOID:630 genetic disease ISO RGD:731050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841000 KCNJ15 potassium inwardly rectifying channel subfamily J member 15 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:731050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11841019 DHDDS dehydrodolichyl diphosphate synthase subunit gene DOID:0080473 developmental delay and seizures with or without movement abnormalities ISO RGD:1323083 D RGD:7240710 20190315 OMIM 11841019 DHDDS dehydrodolichyl diphosphate synthase subunit gene DOID:0080473 developmental delay and seizures with or without movement abnormalities ISO RGD:1323083 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay and seizures with or without movement abnormalities PMID:25741868|PMID:28492532|PMID:29100083|PMID:31440733|PMID:31780880|PMID:33798445|PMID:34182312|PMID:34275143|PMID:34382076|PMID:34906498 11841019 DHDDS dehydrodolichyl diphosphate synthase subunit gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1323083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 11841019 DHDDS dehydrodolichyl diphosphate synthase subunit gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1323083 D RGD:7240710 20180130 OMIM 11841019 DHDDS dehydrodolichyl diphosphate synthase subunit gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1323083 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ibb | ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:16199547|PMID:17576681|PMID:21295282|PMID:21295283|PMID:22110072|PMID:23590195|PMID:24033266|PMID:24078709|PMID:24664694|PMID:24664742|PMID:25066056|PMID:25255364|PMID:25541840|PMID:25741868|PMID:26261414|PMID:27343064|PMID:28130426|PMID:28492532|PMID:28542158|PMID:28559085|PMID:29100083|PMID:29276052|PMID:31047384|PMID:31440733|PMID:31456290|PMID:31780880|PMID:33798445|PMID:34034154|PMID:34182312|PMID:34275143|PMID:34382076|PMID:34906498|PMID:9536098 11841019 DHDDS dehydrodolichyl diphosphate synthase subunit gene DOID:10584 retinitis pigmentosa ISO RGD:1323083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:21295282|PMID:21295283|PMID:22110072|PMID:23590195|PMID:24033266|PMID:24078709|PMID:24664694|PMID:25066056|PMID:25255364|PMID:25541840|PMID:25741868|PMID:26261414|PMID:27343064|PMID:28130426|PMID:28492532|PMID:28542158|PMID:28559085|PMID:29276052|PMID:31456290 11841019 DHDDS dehydrodolichyl diphosphate synthase subunit gene DOID:1826 epilepsy ISO RGD:1323083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11841019 DHDDS dehydrodolichyl diphosphate synthase subunit gene DOID:630 genetic disease ISO RGD:1323083 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:29100083|PMID:9536098 11841049 DPEP2 dipeptidase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1313962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11841049 DPEP2 dipeptidase 2 gene DOID:630 genetic disease ISO RGD:1313962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841064 LTBP1 latent transforming growth factor beta binding protein 1 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:68547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:25065914 11841064 LTBP1 latent transforming growth factor beta binding protein 1 gene DOID:1682 congenital heart disease ISO RGD:68547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital heart disease 11841064 LTBP1 latent transforming growth factor beta binding protein 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:68379 D RGD:9068941 20200609 RGD PMID:11720783|REF_RGD_ID:10412057 11841064 LTBP1 latent transforming growth factor beta binding protein 1 gene DOID:2921 glomerulonephritis ISO RGD:68379 D RGD:9068941 20200609 RGD PMID:16282705|REF_RGD_ID:7387262 11841064 LTBP1 latent transforming growth factor beta binding protein 1 gene DOID:630 genetic disease ISO RGD:68547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841064 LTBP1 latent transforming growth factor beta binding protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:68547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11841064 LTBP1 latent transforming growth factor beta binding protein 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:68547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 11841064 LTBP1 latent transforming growth factor beta binding protein 1 gene DOID:9003374 Autosomal Recessive Cutis Laxa Type IIE ISO RGD:68547 D RGD:7240710 20210728 OMIM 11841064 LTBP1 latent transforming growth factor beta binding protein 1 gene DOID:9003374 Autosomal Recessive Cutis Laxa Type IIE ISO RGD:68547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE PMID:25741868|PMID:33991472 11841064 LTBP1 latent transforming growth factor beta binding protein 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:68379 D RGD:9068941 20200609 RGD PMID:17574405|REF_RGD_ID:2302087 11841103 FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1345273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11841103 FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11841103 FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1345273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 11841103 FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1345273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11841103 FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1345273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11841103 FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0112034 non-syndromic X-linked intellectual disability 9 ISO RGD:1345273 D RGD:7240710 20180130 OMIM 11841103 FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0112034 non-syndromic X-linked intellectual disability 9 ISO RGD:1345273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 9 PMID:10398246|PMID:15162322|PMID:15342698|PMID:25741868|PMID:8288232 11841103 FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1345273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11841103 FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1345273 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 11841103 FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:1345273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11841103 FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:1345273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11841103 FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1345273 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11841134 CGNL1 cingulin like 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1353387 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11841134 CGNL1 cingulin like 1 gene DOID:2717 Bloom syndrome ISO RGD:1353387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11841134 CGNL1 cingulin like 1 gene DOID:630 genetic disease ISO RGD:1353387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841134 CGNL1 cingulin like 1 gene DOID:9256 colorectal cancer ISO RGD:1353387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11841172 RASIP1 Ras interacting protein 1 gene DOID:630 genetic disease ISO RGD:1313233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841186 DENND4B DENN domain containing 4B gene DOID:0070048 GAND syndrome ISO RGD:1344276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GAND SYNDROME PMID:21681106 11841186 DENND4B DENN domain containing 4B gene DOID:0111940 immunodeficiency 42 ISO RGD:1344276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11841186 DENND4B DENN domain containing 4B gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11841186 DENND4B DENN domain containing 4B gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344276 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11841186 DENND4B DENN domain containing 4B gene DOID:1540 parathyroid carcinoma ISO RGD:1344276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11841186 DENND4B DENN domain containing 4B gene DOID:5812 MHC class II deficiency ISO RGD:1344276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11841186 DENND4B DENN domain containing 4B gene DOID:630 genetic disease ISO RGD:1344276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841186 DENND4B DENN domain containing 4B gene DOID:9005539 Familial Prostate Cancer ISO RGD:1344276 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11841186 DENND4B DENN domain containing 4B gene DOID:9007661 Dwarfism ISO RGD:1344276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11841186 DENND4B DENN domain containing 4B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11841230 LOC100976209 histone H3.3A gene DOID:630 genetic disease ISO RGD:1605172 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841235 ATP6V1C1 ATPase H+ transporting V1 subunit C1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1322350 D RGD:9068941 20200609 RGD PMID:26984774|REF_RGD_ID:14700648 11841235 ATP6V1C1 ATPase H+ transporting V1 subunit C1 gene DOID:0111590 Cohen syndrome ISO RGD:1322350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 11841235 ATP6V1C1 ATPase H+ transporting V1 subunit C1 gene DOID:5517 stomach carcinoma ISO RGD:1322350 D RGD:9068941 20200609 RGD PMID:23722107|REF_RGD_ID:14700649 11841235 ATP6V1C1 ATPase H+ transporting V1 subunit C1 gene DOID:630 genetic disease ISO RGD:1322350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841235 ATP6V1C1 ATPase H+ transporting V1 subunit C1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1322351 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:24155661|REF_RGD_ID:14700647 11841256 VPS50 VPS50 subunit of EARP/GARPII complex gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11841256 VPS50 VPS50 subunit of EARP/GARPII complex gene DOID:630 genetic disease ISO RGD:1604352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841256 VPS50 VPS50 subunit of EARP/GARPII complex gene DOID:9000387 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS ISO RGD:1604352 D RGD:7240710 20220323 OMIM 11841256 VPS50 VPS50 subunit of EARP/GARPII complex gene DOID:9000387 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS ISO RGD:1604352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis PMID:34037727 11841300 PSD2 pleckstrin and Sec7 domain containing 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1322340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11841300 PSD2 pleckstrin and Sec7 domain containing 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1322340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11841300 PSD2 pleckstrin and Sec7 domain containing 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1322340 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11841300 PSD2 pleckstrin and Sec7 domain containing 2 gene DOID:630 genetic disease ISO RGD:1322340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841300 PSD2 pleckstrin and Sec7 domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11841300 PSD2 pleckstrin and Sec7 domain containing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322340 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11841319 NAA50 N-alpha-acetyltransferase 50, NatE catalytic subunit gene DOID:630 genetic disease ISO RGD:1322131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841330 LOC100981404 olfactory receptor 2G2 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1346302 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11841330 LOC100981404 olfactory receptor 2G2 gene DOID:1540 parathyroid carcinoma ISO RGD:1346302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11841330 LOC100981404 olfactory receptor 2G2 gene DOID:630 genetic disease ISO RGD:1346302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841330 LOC100981404 olfactory receptor 2G2 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1346302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome PMID:28492532 11841330 LOC100981404 olfactory receptor 2G2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11841333 SPEF2 sperm flagellar 2 gene DOID:0111917 spermatogenic failure 43 ISO RGD:1605340 D RGD:7240710 20200226 OMIM 11841333 SPEF2 sperm flagellar 2 gene DOID:0111917 spermatogenic failure 43 ISO RGD:1605340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 43 PMID:24033266|PMID:25741868|PMID:28492532|PMID:31048344|PMID:31151990|PMID:31278745 11841333 SPEF2 sperm flagellar 2 gene DOID:5419 schizophrenia ISO RGD:1605340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11841333 SPEF2 sperm flagellar 2 gene DOID:630 genetic disease ISO RGD:1605340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841333 SPEF2 sperm flagellar 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11841333 SPEF2 sperm flagellar 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:31942643 11841378 TLR3 toll like receptor 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1343581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25255310 11841378 TLR3 toll like receptor 3 gene DOID:0060180 colitis ISO RGD:735171 D RGD:9068941 20200609 RGD mRNA:increased expression:large intestine mucosa (rat) PMID:20011045|REF_RGD_ID:5128708 11841378 TLR3 toll like receptor 3 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1343581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children PMID:26513235|PMID:28368532|PMID:28492532 11841378 TLR3 toll like receptor 3 gene DOID:10140 dry eye syndrome ISO RGD:1553513 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cornea,conjunctiva: PMID:23372055|REF_RGD_ID:8552916 11841378 TLR3 toll like receptor 3 gene DOID:10591 pre-eclampsia ISO RGD:735171 D RGD:9068941 20200609 RGD protein:increased expression:placenta (rat) PMID:19779466|REF_RGD_ID:5128769 11841378 TLR3 toll like receptor 3 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:1343581 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell: PMID:23946637|REF_RGD_ID:8552827 11841378 TLR3 toll like receptor 3 gene DOID:11166 papillomavirus infectious disease resistance ISO RGD:1343581 D RGD:9068941 20200609 RGD mRNA:increased expression:cervix epithelium (human) PMID:20473890|REF_RGD_ID:5129102 11841378 TLR3 toll like receptor 3 gene DOID:11168 anogenital venereal wart ISO RGD:1343581 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 11841378 TLR3 toll like receptor 3 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1553513 D RGD:9068941 20200609 RGD PMID:18849495|REF_RGD_ID:5129134 11841378 TLR3 toll like receptor 3 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1553513 D RGD:9068941 20200609 RGD PMID:16424225|REF_RGD_ID:5129224 11841378 TLR3 toll like receptor 3 gene DOID:12849 autistic disorder ISO RGD:1343581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11841378 TLR3 toll like receptor 3 gene DOID:13241 Behcet's disease ISO RGD:1343581 D RGD:9068941 20200609 RGD protein,mRNA:increased expression:peripheral blood mononuclear cell PMID:23908180|REF_RGD_ID:8552883 11841378 TLR3 toll like receptor 3 gene DOID:1520 colon carcinoma ISO RGD:1343581 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:23467704|REF_RGD_ID:21079438 11841378 TLR3 toll like receptor 3 gene DOID:1883 hepatitis C ISO RGD:1343581 D RGD:9068941 20200609 RGD associated with glomerulonephritis;mRNA:increased expression:liver: PMID:21623661|REF_RGD_ID:7175316 11841378 TLR3 toll like receptor 3 gene DOID:1883 hepatitis C disease_progression ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:SNPs: :rs3775290,rs3775291,rs5743312 (human) PMID:29947302|REF_RGD_ID:21079437 11841378 TLR3 toll like receptor 3 gene DOID:1883 hepatitis C severity ISO RGD:1343581 D RGD:9068941 20200609 RGD associated with liver transplant;DNP:SNP:cds:p.Leu412Phe(human) PMID:27101936|REF_RGD_ID:21079429 11841378 TLR3 toll like receptor 3 gene DOID:1883 hepatitis C susceptibility ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.Leu412Phe(human) PMID:23240626|REF_RGD_ID:21079422 11841378 TLR3 toll like receptor 3 gene DOID:2043 hepatitis B disease_progression ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: rs3775291,rs5743305 (human) PMID:30143709|REF_RGD_ID:21079424 11841378 TLR3 toll like receptor 3 gene DOID:2043 hepatitis B susceptibility ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: rs1879026(human) PMID:22825813|REF_RGD_ID:21079431 11841378 TLR3 toll like receptor 3 gene DOID:2365 West Nile encephalitis ISO RGD:1553513 D RGD:9068941 20210423 RGD mRNA:increased expression:brain PMID:24173226|REF_RGD_ID:126781836 11841378 TLR3 toll like receptor 3 gene DOID:2841 asthma ISO RGD:1343581 D RGD:9068941 20200609 RGD Asthma, Virus-Induced; mRNA:increased expression:sputum (human) PMID:21129050|REF_RGD_ID:5129226 11841378 TLR3 toll like receptor 3 gene DOID:2841 asthma ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:snp:cds:p.L412F (human) PMID:17434873|REF_RGD_ID:5129478 11841378 TLR3 toll like receptor 3 gene DOID:2841 asthma ISO RGD:1553513 D RGD:9068941 20200609 RGD PMID:17610940|REF_RGD_ID:5129475 11841378 TLR3 toll like receptor 3 gene DOID:2841 asthma ISO RGD:735171 D RGD:9068941 20200609 RGD PMID:21364926|REF_RGD_ID:5128500 11841378 TLR3 toll like receptor 3 gene DOID:2841 asthma no_association ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:snp:cds:p.L412F (human) PMID:14987294|REF_RGD_ID:5129493 11841378 TLR3 toll like receptor 3 gene DOID:3492 mixed connective tissue disease ISO RGD:1553513 D RGD:9068941 20200609 RGD PMID:16453294|REF_RGD_ID:5129221 11841378 TLR3 toll like receptor 3 gene DOID:4724 brain edema ISO RGD:1343581 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cerebral edema PMID:25741868 11841378 TLR3 toll like receptor 3 gene DOID:4989 pancreatitis ISO RGD:735171 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord dorsal horn (rat) PMID:21342497|REF_RGD_ID:5128695 11841378 TLR3 toll like receptor 3 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:snp: :rs3775290(human) PMID:26024592|REF_RGD_ID:21079416 11841378 TLR3 toll like receptor 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1343581 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:17872438|PMID:19625408|PMID:20472559|PMID:20855885|PMID:21911422|PMID:22174453|PMID:24033266|PMID:25339207|PMID:25741868|PMID:26193622|PMID:28046022|PMID:28492532|PMID:29217828|PMID:29305044|PMID:31217193 11841378 TLR3 toll like receptor 3 gene DOID:526 human immunodeficiency virus infectious disease susceptibility ISO RGD:1343581 D RGD:7240710 20230517 OMIM 11841378 TLR3 toll like receptor 3 gene DOID:5614 eye disease ISO RGD:1343581 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:nasal cavity mucosa: PMID:16146574|REF_RGD_ID:8552913 11841378 TLR3 toll like receptor 3 gene DOID:574 peripheral nervous system disease ISO RGD:735171 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord dorsal horn (rat) PMID:20638911|REF_RGD_ID:5129232 11841378 TLR3 toll like receptor 3 gene DOID:630 genetic disease ISO RGD:1343581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11841378 TLR3 toll like receptor 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1343581 D RGD:9068941 20200609 RGD PMID:23197495|REF_RGD_ID:21079421 11841378 TLR3 toll like receptor 3 gene DOID:7188 autoimmune thyroiditis ISO RGD:1343581 D RGD:9068941 20200609 RGD protein:increased expression:thyroid gland (human) PMID:15661832|REF_RGD_ID:5128798 11841378 TLR3 toll like receptor 3 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735171 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum (rat) PMID:19608731|REF_RGD_ID:5128779 11841378 TLR3 toll like receptor 3 gene DOID:8729 milker's nodule severity ISO RGD:1553513 D RGD:9068941 20200609 RGD PMID:18097050|REF_RGD_ID:5129216 11841378 TLR3 toll like receptor 3 gene DOID:9000238 Acute-On-Chronic Liver Failure susceptibility ISO RGD:1343581 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic; DNA:SNP: :1234C>T (human) PMID:23076446|REF_RGD_ID:21079425 11841378 TLR3 toll like receptor 3 gene DOID:9000972 Fever ISO RGD:1343581 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:28726298 11841378 TLR3 toll like receptor 3 gene DOID:9001004 Chronic Periodontitis severity ISO RGD:1343581 D RGD:9068941 20200609 RGD protein:increased expression:gingiva: PMID:21848608|REF_RGD_ID:7794852 11841378 TLR3 toll like receptor 3 gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:1553513 D RGD:9068941 20200609 RGD PMID:23023014|PMID:30870678|REF_RGD_ID:21079426|REF_RGD_ID:21079436 11841378 TLR3 toll like receptor 3 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1343581 D RGD:9068941 20200609 RGD mRNA:decreased expression:olfactory epithelial cell (human) PMID:20935192|REF_RGD_ID:5129228 11841378 TLR3 toll like receptor 3 gene DOID:9001488 Human Influenza ISO RGD:1553513 D RGD:9068941 20200609 RGD PMID:18654661|REF_RGD_ID:5129136 11841378 TLR3 toll like receptor 3 gene DOID:9001488 Human Influenza ISO RGD:1553513 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:16789835|REF_RGD_ID:5129219 11841378 TLR3 toll like receptor 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1553513 D RGD:9068941 20200609 RGD PMID:27178735|REF_RGD_ID:21079415 11841378 TLR3 toll like receptor 3 gene DOID:9001981 Weight Loss ISO RGD:1343581 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:28726298 11841378 TLR3 toll like receptor 3 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1553513 D RGD:9068941 20200609 RGD PMID:19009529|REF_RGD_ID:5129133 11841378 TLR3 toll like receptor 3 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:1343581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11841378 TLR3 toll like receptor 3 gene DOID:9004009 Reperfusion Injury ISO RGD:735171 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:21355876|REF_RGD_ID:5128693 11841378 TLR3 toll like receptor 3 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:SNP: :rs13126816 (human) PMID:23220997|REF_RGD_ID:21079430 11841378 TLR3 toll like receptor 3 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:SNP: :rs3775290(human) PMID:29860675|REF_RGD_ID:21079428 11841378 TLR3 toll like receptor 3 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:1343581 D RGD:9068941 20200609 RGD PMID:28480979|REF_RGD_ID:21079435 11841378 TLR3 toll like receptor 3 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:SNP: :rs3775290(human) PMID:30321082|REF_RGD_ID:21079427 11841378 TLR3 toll like receptor 3 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.Leu412Phe(human) PMID:23240626|REF_RGD_ID:21079422 11841378 TLR3 toll like receptor 3 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1343581 D RGD:9068941 20200609 RGD treatment:peginterferon plus ribavirin. PMID:19674283|REF_RGD_ID:21079423 11841378 TLR3 toll like receptor 3 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:1343581 D RGD:9068941 20200609 RGD protein:decreased expression:bone marrow, blood, eosinophil (human) PMID:19752565|REF_RGD_ID:5129130 11841378 TLR3 toll like receptor 3 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :1234C>T (human) PMID:23076446|REF_RGD_ID:21079425 11841378 TLR3 toll like receptor 3 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:snp: :rs3775290(human) PMID:26024592|REF_RGD_ID:21079416 11841378 TLR3 toll like receptor 3 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1343581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis 1 | ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:17434873|PMID:17576681|PMID:17872438|PMID:19625408|PMID:19763152|PMID:20307669|PMID:20472559|PMID:20855885|PMID:21911422|PMID:22174453|PMID:22406018|PMID:24033266|PMID:25118264|PMID:25339207|PMID:25629076|PMID:25741868|PMID:26193622|PMID:26513235|PMID:27872624|PMID:28046022|PMID:28368532|PMID:28492532|PMID:29217828|PMID:29305044|PMID:31217193|PMID:31268141|PMID:32936395|PMID:9536098 11841378 TLR3 toll like receptor 3 gene DOID:9009130 Immunodeficiency 83 ISO RGD:1343581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 83, susceptibility to viral infections PMID:17872438|PMID:19625408|PMID:20472559|PMID:20855885|PMID:21911422|PMID:22174453|PMID:24033266|PMID:25339207|PMID:25741868|PMID:26193622|PMID:26513235|PMID:28046022|PMID:28368532|PMID:28492532|PMID:29217828|PMID:29305044|PMID:31217193|PMID:31268141|PMID:32936395 11841378 TLR3 toll like receptor 3 gene DOID:9009130 Immunodeficiency 83 susceptibility ISO RGD:1343581 D RGD:7240710 20230517 OMIM 11841378 TLR3 toll like receptor 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:snps:intron:g.2593C>T rs5743313, g.2642C>A rs5743315, g.2690A>G (human) PMID:16029432|REF_RGD_ID:5129476 11841378 Tlr3 toll-like receptor 3 gene DOID:9002457 Experimental Arthritis ISO RGD:735171 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spleen (rat) PMID:20500834|REF_RGD_ID:5128706 11841390 LOC100984477 uncharacterized protein C3orf36 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1602212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 11841393 NFKB2 nuclear factor kappa B subunit 2 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1316230 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 11841393 NFKB2 nuclear factor kappa B subunit 2 gene DOID:0080855 Parkinsonism ISO RGD:1307189 D RGD:9068941 20200609 RGD PMID:18534259|REF_RGD_ID:2302392 11841393 NFKB2 nuclear factor kappa B subunit 2 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1316230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:24140114|PMID:28492532 11841393 NFKB2 nuclear factor kappa B subunit 2 gene DOID:0081152 common variable immunodeficiency 10 ISO RGD:1316230 D RGD:7240710 20190327 OMIM 11841393 NFKB2 nuclear factor kappa B subunit 2 gene DOID:0081152 common variable immunodeficiency 10 ISO RGD:1316230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 10 PMID:16199547|PMID:16303288|PMID:17576681|PMID:22013103|PMID:24033266|PMID:24140114|PMID:24702956|PMID:24888602|PMID:25237204|PMID:25524009|PMID:25605273|PMID:25741868|PMID:28492532|PMID:28778864|PMID:29225085|PMID:29921932|PMID:30941118|PMID:31417880|PMID:32506361|PMID:9536098 11841393 NFKB2 nuclear factor kappa B subunit 2 gene DOID:12155 lymphocytic choriomeningitis disease_progression ISO RGD:1316231 D RGD:9068941 20201218 RGD PMID:20565293|REF_RGD_ID:40902858 11841393 NFKB2 nuclear factor kappa B subunit 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1316230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:24140114|PMID:24702956|PMID:25524009|PMID:25605273|PMID:25741868|PMID:28492532|PMID:28778864|PMID:29225085|PMID:30941118 11841393 NFKB2 nuclear factor kappa B subunit 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 11841393 NFKB2 nuclear factor kappa B subunit 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1316230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:24140114|PMID:24702956|PMID:25524009|PMID:25605273|PMID:25741868|PMID:28492532|PMID:28778864|PMID:29225085|PMID:30941118|PMID:30953794 11841393 NFKB2 nuclear factor kappa B subunit 2 gene DOID:630 genetic disease ISO RGD:1316230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11841393 NFKB2 nuclear factor kappa B subunit 2 gene DOID:649 prion disease ISO RGD:1316231 D RGD:9068941 20201218 RGD PMID:17573907|REF_RGD_ID:40902830 11841393 NFKB2 nuclear factor kappa B subunit 2 gene DOID:8929 atrophic gastritis ISO RGD:1316231 D RGD:9068941 20201218 RGD associated with Helicobacter Infections PMID:23975431|REF_RGD_ID:40902973 11841393 NFKB2 nuclear factor kappa B subunit 2 gene DOID:9001455 Intestinal Helminthiasis treatment ISO RGD:1316231 D RGD:9068941 20201225 RGD PMID:12370384|REF_RGD_ID:40902988 11841393 NFKB2 nuclear factor kappa B subunit 2 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1307189 D RGD:9068941 20200609 RGD protein:increased activity:striatum PMID:17250675|REF_RGD_ID:2302394 11841393 NFKB2 nuclear factor kappa B subunit 2 gene DOID:9004649 Heat Stroke ISO RGD:1316230 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 11841393 NFKB2 nuclear factor kappa B subunit 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1307189 D RGD:9068941 20200609 RGD PMID:18633731|REF_RGD_ID:2298775 11841440 ZNF397 zinc finger protein 397 gene DOID:1059 intellectual disability ISO RGD:1314512 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11841440 ZNF397 zinc finger protein 397 gene DOID:630 genetic disease ISO RGD:1314512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841451 GSDME gasdermin E gene DOID:0050563 nonsyndromic deafness ISO RGD:1349553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:15173223|PMID:17427029|PMID:24033266|PMID:28492532|PMID:30311386|PMID:7427029 11841451 GSDME gasdermin E gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1349553 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:25741868 11841451 GSDME gasdermin E gene DOID:0080773 delta beta-thalassemia ISO RGD:1349553 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin PMID:25741868 11841451 GSDME gasdermin E gene DOID:0110575 autosomal dominant nonsyndromic deafness 5 ISO RGD:1349553 D RGD:7240710 20180130 OMIM 11841451 GSDME gasdermin E gene DOID:0110575 autosomal dominant nonsyndromic deafness 5 ISO RGD:1349553 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 5 PMID:14676472|PMID:15173223|PMID:17576681|PMID:17868390|PMID:24033266|PMID:24164807|PMID:25741868|PMID:28492532|PMID:29266521|PMID:29849037|PMID:30311386|PMID:34906502|PMID:9536098|PMID:9771715 11841451 GSDME gasdermin E gene DOID:10003 sensorineural hearing loss ISO RGD:1349553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 11841451 GSDME gasdermin E gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11841451 GSDME gasdermin E gene DOID:630 genetic disease ISO RGD:1349553 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11841451 GSDME gasdermin E gene DOID:7148 rheumatoid arthritis ISO RGD:1349553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17379860 11841451 GSDME gasdermin E gene DOID:9004538 Hearing Loss ISO RGD:1349553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed PMID:28492532|PMID:30311386 11841474 MED11 mediator complex subunit 11 gene DOID:630 genetic disease ISO RGD:1606637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841482 PSMA4 proteasome 20S subunit alpha 4 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 11841482 PSMA4 proteasome 20S subunit alpha 4 gene DOID:2717 Bloom syndrome ISO RGD:735266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11841482 PSMA4 proteasome 20S subunit alpha 4 gene DOID:305 carcinoma ISO RGD:735266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11841482 PSMA4 proteasome 20S subunit alpha 4 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11841482 PSMA4 proteasome 20S subunit alpha 4 gene DOID:630 genetic disease ISO RGD:735266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841482 PSMA4 proteasome 20S subunit alpha 4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11841482 PSMA4 proteasome 20S subunit alpha 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11841482 PSMA4 proteasome 20S subunit alpha 4 gene DOID:9007188 Liver Neoplasms ISO RGD:735266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20195826 11841482 PSMA4 proteasome 20S subunit alpha 4 gene DOID:9256 colorectal cancer ISO RGD:735266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11841495 GCH1 GTP cyclohydrolase 1 gene DOID:0080600 COVID-19 ISO RGD:1345739 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11841495 GCH1 GTP cyclohydrolase 1 gene DOID:0090043 dystonia 5 ISO RGD:1345739 D RGD:7240710 20180130 OMIM 11841495 GCH1 GTP cyclohydrolase 1 gene DOID:0090043 dystonia 5 ISO RGD:1345739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dopa-responsive dystonia | ClinVar Annotator: match by term: Dystonia 5 | ClinVar Annotator: match by term: Dystonia, DOPA-responsive, with or without hyperphenylalaninemia PMID:10078749|PMID:10208576|PMID:10457396|PMID:10496263|PMID:10732814|PMID:10825351|PMID:10984670|PMID:10987649|PMID:11026444|PMID:11113234|PMID:11359069|PMID:11486899|PMID:12112113|PMID:12391354|PMID:12473771|PMID:12707079|PMID:12874420|PMID:1449240|PMID:15303002|PMID:15389992|PMID:15753436|PMID:15852365|PMID:16199547|PMID:16289769|PMID:16917893|PMID:17044972|PMID:17101830|PMID:17111153|PMID:17557242|PMID:17576681|PMID:17804835|PMID:17898029|PMID:18044725|PMID:18276179|PMID:18554280|PMID:18587264|PMID:18752196|PMID:19234759|PMID:19332422|PMID:19491146|PMID:19566901|PMID:20082337|PMID:20108370|PMID:20187889|PMID:20437540|PMID:20491893|PMID:20818608|PMID:20842687|PMID:20937667|PMID:21412842|PMID:21935284|PMID:22373569|PMID:23211702|PMID:23430498|PMID:23762320|PMID:24033266|PMID:24255805|PMID:24474670|PMID:24509643|PMID:24993959|PMID:25125585|PMID:25150291|PMID:25181484|PMID:25398234|PMID:25416181|PMID:25497597|PMID:25557619|PMID:25640679|PMID:25741868|PMID:26230973|PMID:26400349|PMID:26467025|PMID:27185167|PMID:27217339|PMID:27313105|PMID:27619486|PMID:27666935|PMID:28397219|PMID:28492532|PMID:28582483|PMID:28958832|PMID:29290055|PMID:29471552|PMID:29948246|PMID:30314816|PMID:30894892|PMID:30911941|PMID:31130284|PMID:31178337|PMID:31213404|PMID:33713342|PMID:33875303|PMID:34054692|PMID:34426522|PMID:35083481|PMID:7544125|PMID:7730309|PMID:7874165|PMID:8298648|PMID:8619546|PMID:8852666|PMID:9120469|PMID:9328244|PMID:9536098|PMID:9566388|PMID:9576537|PMID:9585358|PMID:9626769|PMID:9667588|PMID:9749603|PMID:9778264|PMID:9886460 11841495 GCH1 GTP cyclohydrolase 1 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1345739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:25741868 11841495 GCH1 GTP cyclohydrolase 1 gene DOID:0111805 syndromic microphthalmia 6 ISO RGD:1345739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies PMID:18252212|PMID:21340693|PMID:28492532 11841495 GCH1 GTP cyclohydrolase 1 gene DOID:0112225 BH4-deficient hyperphenylalaninemia B ISO RGD:1345739 D RGD:7240710 20180130 OMIM 11841495 GCH1 GTP cyclohydrolase 1 gene DOID:0112225 BH4-deficient hyperphenylalaninemia B ISO RGD:1345739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GTP cyclohydrolase I deficiency | ClinVar Annotator: match by term: Hyperphenylalaninemia, BH4-Deficient, B PMID:10496263|PMID:12391354|PMID:12707079|PMID:12874420|PMID:15303002|PMID:15389992|PMID:15852365|PMID:17044972|PMID:17101830|PMID:17576681|PMID:17898029|PMID:18044725|PMID:19234759|PMID:19332422|PMID:19491146|PMID:20842687|PMID:22373569|PMID:23430498|PMID:24033266|PMID:24509643|PMID:24993959|PMID:25125585|PMID:25150291|PMID:25398234|PMID:25416181|PMID:25497597|PMID:25741868|PMID:26230973|PMID:26467025|PMID:27185167|PMID:27217339|PMID:27246466|PMID:27313105|PMID:28492532|PMID:29471552|PMID:29948246|PMID:30314816|PMID:30894892|PMID:31213404|PMID:33713342|PMID:34054692|PMID:35083481|PMID:7730309|PMID:7869202|PMID:8852666|PMID:9328244|PMID:9536098|PMID:9667588|PMID:9886460 11841495 GCH1 GTP cyclohydrolase 1 gene DOID:1059 intellectual disability ISO RGD:1345739 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:30314816|PMID:34426522|PMID:9667588 11841495 GCH1 GTP cyclohydrolase 1 gene DOID:10763 hypertension ISO RGD:1345739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12855421 11841495 GCH1 GTP cyclohydrolase 1 gene DOID:1826 epilepsy ISO RGD:1345739 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11841495 GCH1 GTP cyclohydrolase 1 gene DOID:3312 bipolar disorder ISO RGD:1345739 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15909293|REF_RGD_ID:1601281 11841495 GCH1 GTP cyclohydrolase 1 gene DOID:535 sleep disorder ISO RGD:1345739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sleep disturbance PMID:25741868 11841495 GCH1 GTP cyclohydrolase 1 gene DOID:543 dystonia ISO RGD:1345739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder 11841495 GCH1 GTP cyclohydrolase 1 gene DOID:630 genetic disease ISO RGD:1345739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12391354|PMID:15303002|PMID:17044972|PMID:18044725|PMID:19234759|PMID:19332422|PMID:19491146|PMID:23430498|PMID:24993959|PMID:25181484|PMID:25497597|PMID:25741868|PMID:26467025|PMID:27313105|PMID:28492532|PMID:29471552|PMID:30314816|PMID:30894892|PMID:35083481|PMID:8852666|PMID:9566388|PMID:9667588|PMID:9778264|PMID:9886460 11841495 GCH1 GTP cyclohydrolase 1 gene DOID:9000641 Pain ISO RGD:1345739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19081190 11841495 GCH1 GTP cyclohydrolase 1 gene DOID:9000831 Hypokinesia ISO RGD:1345739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17368676 11841495 GCH1 GTP cyclohydrolase 1 gene DOID:9001480 Muscle Rigidity ISO RGD:1345739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17368676 11841495 GCH1 GTP cyclohydrolase 1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1345739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive PMID:10987649|PMID:12112113|PMID:12391354|PMID:12552057|PMID:1449240|PMID:15303002|PMID:15753436|PMID:16917893|PMID:17044972|PMID:17898029|PMID:18044725|PMID:19234759|PMID:19332422|PMID:21412842|PMID:23430498|PMID:24993959|PMID:25497597|PMID:25741868|PMID:26467025|PMID:27313105|PMID:28492532|PMID:29471552|PMID:30314816|PMID:30894892|PMID:34426522|PMID:35083481|PMID:8298648|PMID:8852666|PMID:9667588|PMID:9886460 11841495 GCH1 GTP cyclohydrolase 1 gene DOID:9005228 Musculoskeletal Pain ISO RGD:1345739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25218601 11841495 GCH1 GTP cyclohydrolase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1345739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11841495 GCH1 GTP cyclohydrolase 1 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:1345739 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15659429 11841495 GCH1 GTP cyclohydrolase 1 gene DOID:9281 phenylketonuria ISO RGD:1345739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperphenylalaninemia, non-phenylketonuric PMID:15389992|PMID:19491146|PMID:24993959|PMID:25125585|PMID:25398234|PMID:25497597|PMID:25741868|PMID:26230973|PMID:26467025|PMID:27185167|PMID:27217339|PMID:28492532|PMID:30314816 11841508 ADCY6 adenylate cyclase 6 gene DOID:5199 ureteral obstruction ISO RGD:2035 D RGD:9068941 20200609 RGD PMID:18971210|REF_RGD_ID:2312654 11841508 ADCY6 adenylate cyclase 6 gene DOID:630 genetic disease ISO RGD:735837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11841508 ADCY6 adenylate cyclase 6 gene DOID:9002593 Lethal Congenital Contracture Syndrome 8 ISO RGD:735837 D RGD:7240710 20180130 OMIM 11841508 ADCY6 adenylate cyclase 6 gene DOID:9002593 Lethal Congenital Contracture Syndrome 8 ISO RGD:735837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 8 PMID:23806086|PMID:24088041|PMID:24319099|PMID:25741868|PMID:26257172|PMID:31846058 11841544 TTLL1 TTL family tubulin polyglutamylase complex subunit L1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1319289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11841544 TTLL1 TTL family tubulin polyglutamylase complex subunit L1 gene DOID:1059 intellectual disability ISO RGD:1319289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11841544 TTLL1 TTL family tubulin polyglutamylase complex subunit L1 gene DOID:630 genetic disease ISO RGD:1319289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841544 TTLL1 TTL family tubulin polyglutamylase complex subunit L1 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1319289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 11841544 TTLL1 TTL family tubulin polyglutamylase complex subunit L1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1319290 D RGD:9068941 20220825 MouseDO 11841567 KCTD3 potassium channel tetramerization domain containing 3 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1321690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 11841567 KCTD3 potassium channel tetramerization domain containing 3 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1321690 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25558065 11841567 KCTD3 potassium channel tetramerization domain containing 3 gene DOID:0080600 COVID-19 ISO RGD:1321690 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11841567 KCTD3 potassium channel tetramerization domain containing 3 gene DOID:0110838 Usher syndrome type 2A ISO RGD:1321690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:21681106 11841567 KCTD3 potassium channel tetramerization domain containing 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1321690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11841567 KCTD3 potassium channel tetramerization domain containing 3 gene DOID:630 genetic disease ISO RGD:1321690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841567 KCTD3 potassium channel tetramerization domain containing 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11841589 ORC3 origin recognition complex subunit 3 gene DOID:630 genetic disease ISO RGD:1318236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841631 NANOGNB NANOG neighbor homeobox gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:2881521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11841631 NANOGNB NANOG neighbor homeobox gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:2881521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11841631 NANOGNB NANOG neighbor homeobox gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:2881521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11841631 NANOGNB NANOG neighbor homeobox gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:2881521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11841631 NANOGNB NANOG neighbor homeobox gene DOID:0111621 Temtamy syndrome ISO RGD:2881521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11841631 NANOGNB NANOG neighbor homeobox gene DOID:630 genetic disease ISO RGD:2881521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841631 NANOGNB NANOG neighbor homeobox gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:2881521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11841638 GOLGA6L2 golgin A6 family like 2 gene DOID:0060041 autism spectrum disorder ISO RGD:2304159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 11841638 GOLGA6L2 golgin A6 family like 2 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:2304159 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:31690835 11841638 GOLGA6L2 golgin A6 family like 2 gene DOID:12849 autistic disorder ISO RGD:2304159 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 11841638 GOLGA6L2 golgin A6 family like 2 gene DOID:1932 Angelman syndrome ISO RGD:2304159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome 11841638 GOLGA6L2 golgin A6 family like 2 gene DOID:5419 schizophrenia ISO RGD:2304159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11841651 PCDHB4 protocadherin beta 4 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1312238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11841651 PCDHB4 protocadherin beta 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1312238 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11841651 PCDHB4 protocadherin beta 4 gene DOID:1826 epilepsy ISO RGD:1312238 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25558065 11841651 PCDHB4 protocadherin beta 4 gene DOID:630 genetic disease ISO RGD:1312238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841651 PCDHB4 protocadherin beta 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11841651 PCDHB4 protocadherin beta 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1312238 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11841683 BRD2 bromodomain containing 2 gene DOID:0050553 JMP syndrome ISO RGD:1350574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11841683 BRD2 bromodomain containing 2 gene DOID:0050902 medulloblastoma ISO RGD:1350574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24231268 11841683 BRD2 bromodomain containing 2 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1350574 D RGD:9068941 20200609 RGD PMID:14563639|REF_RGD_ID:9586345 11841683 BRD2 bromodomain containing 2 gene DOID:1909 melanoma ISO RGD:1350574 D RGD:9068941 20200609 RGD protein:mRNA:skin: PMID:23950209|REF_RGD_ID:9586346 11841683 BRD2 bromodomain containing 2 gene DOID:2018 hyperinsulinism ISO RGD:1551876 D RGD:9068941 20200609 RGD PMID:19883376|REF_RGD_ID:9586446 11841683 BRD2 bromodomain containing 2 gene DOID:3068 glioblastoma ISO RGD:1350574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27388964 11841683 BRD2 bromodomain containing 2 gene DOID:3159 photosensitivity disease susceptibility ISO RGD:1350574 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: : PMID:16516380|REF_RGD_ID:9586343 11841683 BRD2 bromodomain containing 2 gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:1350574 D RGD:9068941 20200609 RGD DNA:SNPs:promoter (human) PMID:12830434|REF_RGD_ID:1358444 11841683 BRD2 bromodomain containing 2 gene DOID:630 genetic disease ISO RGD:1350574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841683 BRD2 bromodomain containing 2 gene DOID:707 B-cell lymphoma ISO RGD:1350574 D RGD:9068941 20200609 RGD PMID:14563639|REF_RGD_ID:9586345 11841683 BRD2 bromodomain containing 2 gene DOID:9970 obesity ISO RGD:1551876 D RGD:9068941 20200609 RGD PMID:19883376|REF_RGD_ID:9586446 11841701 OSTM1 osteoclastogenesis associated transmembrane protein 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1345018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 11841701 OSTM1 osteoclastogenesis associated transmembrane protein 1 gene DOID:0110939 autosomal recessive osteopetrosis 5 ISO RGD:1345018 D RGD:7240710 20180130 OMIM 11841701 OSTM1 osteoclastogenesis associated transmembrane protein 1 gene DOID:0110939 autosomal recessive osteopetrosis 5 ISO RGD:1345018 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 5 PMID:12627228|PMID:16813530|PMID:25741868|PMID:28492532|PMID:28612835 11841701 OSTM1 osteoclastogenesis associated transmembrane protein 1 gene DOID:13533 osteopetrosis ISO RGD:1345018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteopetrosis 11841701 OSTM1 osteoclastogenesis associated transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:1345018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11841711 CLDN3 claudin 3 gene DOID:0060041 autism spectrum disorder ISO RGD:68632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 11841711 CLDN3 claudin 3 gene DOID:10923 sickle cell anemia ISO RGD:68632 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 11841711 CLDN3 claudin 3 gene DOID:12849 autistic disorder ISO RGD:68632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11841711 CLDN3 claudin 3 gene DOID:13976 peptic esophagitis ISO RGD:68425 D RGD:9068941 20200609 RGD protein:altered expression:epithelial cell, esophagus: PMID:21373849|REF_RGD_ID:11344880 11841711 CLDN3 claudin 3 gene DOID:1928 Williams-Beuren syndrome ISO RGD:68632 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 11841711 CLDN3 claudin 3 gene DOID:1929 supravalvular aortic stenosis ISO RGD:68632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis PMID:10627943|PMID:11175284|PMID:25205790|PMID:28277377|PMID:28492532|PMID:7557968|PMID:7611295|PMID:7726172|PMID:8968740 11841711 CLDN3 claudin 3 gene DOID:4481 allergic rhinitis ISO RGD:68632 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:33441633 11841711 CLDN3 claudin 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:68632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11841711 CLDN3 claudin 3 gene DOID:5419 schizophrenia ISO RGD:68632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11841711 CLDN3 claudin 3 gene DOID:630 genetic disease ISO RGD:68632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841711 CLDN3 claudin 3 gene DOID:8445 intestinal volvulus ISO RGD:68632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11841711 CLDN3 claudin 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:68632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11841711 CLDN3 claudin 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11841711 CLDN3 claudin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11841711 CLDN3 claudin 3 gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:68425 D RGD:9068941 20200609 RGD protein:decreased expression:colon: PMID:19929946|REF_RGD_ID:2325127 11841711 CLDN3 claudin 3 gene DOID:9008419 Volvulus Of Midgut ISO RGD:68632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11841716 LZTFL1 leucine zipper transcription factor like 1 gene DOID:0080600 COVID-19 ISO RGD:1315352 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:32558485|PMID:32998156 11841716 LZTFL1 leucine zipper transcription factor like 1 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1315352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:23692385 11841716 LZTFL1 leucine zipper transcription factor like 1 gene DOID:0110139 Bardet-Biedl syndrome 17 ISO RGD:1315352 D RGD:7240710 20180130 OMIM 11841716 LZTFL1 leucine zipper transcription factor like 1 gene DOID:0110139 Bardet-Biedl syndrome 17 ISO RGD:1315352 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 17 PMID:22510444|PMID:23692385|PMID:25741868|PMID:28492532 11841716 LZTFL1 leucine zipper transcription factor like 1 gene DOID:10487 Hirschsprung's disease ISO RGD:1315352 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 11841716 LZTFL1 leucine zipper transcription factor like 1 gene DOID:11162 respiratory failure ISO RGD:1315352 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32558485 11841716 LZTFL1 leucine zipper transcription factor like 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1315352 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 11841716 LZTFL1 leucine zipper transcription factor like 1 gene DOID:630 genetic disease ISO RGD:1315352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11841716 LZTFL1 leucine zipper transcription factor like 1 gene DOID:9001827 Critical Illness ISO RGD:1315352 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32558485|PMID:32998156 11841716 LZTFL1 leucine zipper transcription factor like 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1315352 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11841742 MED10 mediator complex subunit 10 gene DOID:630 genetic disease ISO RGD:1604270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841750 KLHL23 kelch like family member 23 gene DOID:630 genetic disease ISO RGD:1605864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841757 EIF3K eukaryotic translation initiation factor 3 subunit K gene DOID:630 genetic disease ISO RGD:1342979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841770 SNHG32 small nucleolar RNA host gene 32 gene DOID:0050553 JMP syndrome ISO RGD:1344247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11841782 SSC4D scavenger receptor cysteine rich family member with 4 domains gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11841782 SSC4D scavenger receptor cysteine rich family member with 4 domains gene DOID:630 genetic disease ISO RGD:1315886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841782 SSC4D scavenger receptor cysteine rich family member with 4 domains gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1315886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 11841796 RDH13 retinol dehydrogenase 13 gene DOID:630 genetic disease ISO RGD:1312701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841796 RDH13 retinol dehydrogenase 13 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27865848 11841796 RDH13 retinol dehydrogenase 13 gene DOID:9005749 Necrosis ISO RGD:1312701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27865848 11841796 RDH13 retinol dehydrogenase 13 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1312701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27865848 11841812 ACTBL2 actin beta like 2 gene DOID:630 genetic disease ISO RGD:1603843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841812 ACTBL2 actin beta like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11841820 C15H15orf39 chromosome 15 C15orf39 homolog gene DOID:2717 Bloom syndrome ISO RGD:1604333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11841820 C15H15orf39 chromosome 15 C15orf39 homolog gene DOID:5419 schizophrenia ISO RGD:1604333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11841820 C15H15orf39 chromosome 15 C15orf39 homolog gene DOID:630 genetic disease ISO RGD:1604333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841820 C15H15orf39 chromosome 15 C15orf39 homolog gene DOID:9256 colorectal cancer ISO RGD:1604333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11841831 WDR74 WD repeat domain 74 gene DOID:0080600 COVID-19 ISO RGD:1603395 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 11841831 WDR74 WD repeat domain 74 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11841831 WDR74 WD repeat domain 74 gene DOID:1059 intellectual disability ISO RGD:1603395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11841831 WDR74 WD repeat domain 74 gene DOID:14566 disease of cellular proliferation ISO RGD:1603395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25261935 11841831 WDR74 WD repeat domain 74 gene DOID:1909 melanoma ISO RGD:1603395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11841831 WDR74 WD repeat domain 74 gene DOID:630 genetic disease ISO RGD:1603395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841854 MRPL15 mitochondrial ribosomal protein L15 gene DOID:0080600 COVID-19 ISO RGD:1312447 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11841854 MRPL15 mitochondrial ribosomal protein L15 gene DOID:630 genetic disease ISO RGD:1312447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841879 CFAP298 cilia and flagella associated protein 298 gene DOID:0050545 visceral heterotaxy ISO RGD:1315861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Situs ambiguus 11841879 CFAP298 cilia and flagella associated protein 298 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1315861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11841879 CFAP298 cilia and flagella associated protein 298 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1315861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 11841879 CFAP298 cilia and flagella associated protein 298 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1315861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11841879 CFAP298 cilia and flagella associated protein 298 gene DOID:0110627 primary ciliary dyskinesia 26 ISO RGD:1315861 D RGD:7240710 20180130 OMIM 11841879 CFAP298 cilia and flagella associated protein 298 gene DOID:0110627 primary ciliary dyskinesia 26 ISO RGD:1315861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 26 PMID:24094744|PMID:25741868|PMID:28492532 11841879 CFAP298 cilia and flagella associated protein 298 gene DOID:758 situs inversus ISO RGD:1315861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence 11841879 CFAP298 cilia and flagella associated protein 298 gene DOID:9005698 ZTTK Syndrome ISO RGD:1315861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 11841893 UBQLN1 ubiquilin 1 gene DOID:630 genetic disease ISO RGD:731465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841893 UBQLN1 ubiquilin 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747970 11841922 DHRS7 dehydrogenase/reductase 7 gene DOID:630 genetic disease ISO RGD:1317573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841922 DHRS7 dehydrogenase/reductase 7 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1317573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29216386 11841922 DHRS7 dehydrogenase/reductase 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11841922 DHRS7 dehydrogenase/reductase 7 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1317573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11841922 DHRS7 dehydrogenase/reductase 7 gene DOID:9452 fatty liver disease ISO RGD:1317573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11841938 RPL37A ribosomal protein L37a gene DOID:11612 polycystic ovary syndrome ISO RGD:1317728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11841938 RPL37A ribosomal protein L37a gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11841946 KPTN kaptin, actin binding protein gene DOID:0080600 COVID-19 ISO RGD:1321189 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11841946 KPTN kaptin, actin binding protein gene DOID:0081206 autosomal recessive intellectual developmental disorder 41 ISO RGD:1321189 D RGD:7240710 20180130 OMIM 11841946 KPTN kaptin, actin binding protein gene DOID:0081206 autosomal recessive intellectual developmental disorder 41 ISO RGD:1321189 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Macrocephaly-developmental delay syndrome PMID:17576681|PMID:24239382|PMID:25741868|PMID:25847626|PMID:28492532|PMID:31345272|PMID:32238909|PMID:32358097|PMID:32808430|PMID:9536098 11841946 KPTN kaptin, actin binding protein gene DOID:1059 intellectual disability ISO RGD:1321189 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24239382|PMID:25741868|PMID:25847626|PMID:28492532|PMID:32238909|PMID:32808430 11841946 KPTN kaptin, actin binding protein gene DOID:630 genetic disease ISO RGD:1321189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11841963 RND3 Rho family GTPase 3 gene DOID:630 genetic disease ISO RGD:1351005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11841963 RND3 Rho family GTPase 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1351005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11841972 NRK Nik related kinase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11841972 NRK Nik related kinase gene DOID:12849 autistic disorder ISO RGD:1344667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11841972 NRK Nik related kinase gene DOID:630 genetic disease ISO RGD:1344667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11842004 CISD1 CDGSH iron sulfur domain 1 gene DOID:630 genetic disease ISO RGD:1319915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11842023 CRKL CRK like proto-oncogene, adaptor protein gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1318357 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 11842023 CRKL CRK like proto-oncogene, adaptor protein gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1318357 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 11842023 CRKL CRK like proto-oncogene, adaptor protein gene DOID:10286 prostate carcinoma ISO RGD:1318357 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation:prostate gland PMID:16391854|REF_RGD_ID:7488899 11842023 CRKL CRK like proto-oncogene, adaptor protein gene DOID:1059 intellectual disability ISO RGD:1318357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11842023 CRKL CRK like proto-oncogene, adaptor protein gene DOID:11198 DiGeorge syndrome ISO RGD:1318357 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 11842023 CRKL CRK like proto-oncogene, adaptor protein gene DOID:11372 megacolon ISO RGD:1318357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11842023 CRKL CRK like proto-oncogene, adaptor protein gene DOID:12583 velocardiofacial syndrome ISO RGD:1318357 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 11842023 CRKL CRK like proto-oncogene, adaptor protein gene DOID:12849 autistic disorder ISO RGD:1318357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11842023 CRKL CRK like proto-oncogene, adaptor protein gene DOID:1520 colon carcinoma ISO RGD:1318357 D RGD:9068941 20200609 RGD PMID:16391854|REF_RGD_ID:7488899 11842023 CRKL CRK like proto-oncogene, adaptor protein gene DOID:1826 epilepsy ISO RGD:1318357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11842023 CRKL CRK like proto-oncogene, adaptor protein gene DOID:2394 ovarian cancer ISO RGD:1318357 D RGD:9068941 20200609 RGD PMID:16391854|REF_RGD_ID:7488899 11842023 CRKL CRK like proto-oncogene, adaptor protein gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1318357 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:23686806|REF_RGD_ID:7488897 11842023 CRKL CRK like proto-oncogene, adaptor protein gene DOID:3905 lung carcinoma ISO RGD:1318357 D RGD:9068941 20200609 RGD PMID:16391854|REF_RGD_ID:7488899 11842023 CRKL CRK like proto-oncogene, adaptor protein gene DOID:4159 skin cancer ISO RGD:1318357 D RGD:9068941 20200609 RGD PMID:16391854|REF_RGD_ID:7488899 11842023 CRKL CRK like proto-oncogene, adaptor protein gene DOID:5419 schizophrenia ISO RGD:1318357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11842023 CRKL CRK like proto-oncogene, adaptor protein gene DOID:612 primary immunodeficiency disease ISO RGD:1318357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11842023 CRKL CRK like proto-oncogene, adaptor protein gene DOID:8552 chronic myeloid leukemia ISO RGD:1318357 D RGD:9068941 20200609 RGD protein:increased phosphorylation:blood PMID:17900686|REF_RGD_ID:13674160 11842023 CRKL CRK like proto-oncogene, adaptor protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11842023 CRKL CRK like proto-oncogene, adaptor protein gene DOID:9007661 Dwarfism ISO RGD:1318357 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11842023 CRKL CRK like proto-oncogene, adaptor protein gene DOID:9008939 Breast Neoplasms ISO RGD:1318357 D RGD:9068941 20200609 RGD PMID:16391854|REF_RGD_ID:7488899 11842036 STK33 serine/threonine kinase 33 gene DOID:630 genetic disease ISO RGD:1315072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11842036 STK33 serine/threonine kinase 33 gene DOID:9003100 Pancreatic Neoplasms ISO RGD:1315072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic neoplasm PMID:20581473 11842072 C8H8orf58 chromosome 8 C8orf58 homolog gene DOID:630 genetic disease ISO RGD:1604880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11842072 C8H8orf58 chromosome 8 C8orf58 homolog gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1604880 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 11842090 SOX15 SRY-box transcription factor 15 gene DOID:0060224 atrial fibrillation ISO RGD:1323788 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 11842090 SOX15 SRY-box transcription factor 15 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1323788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11842090 SOX15 SRY-box transcription factor 15 gene DOID:0080558 congenital disorder of glycosylation If ISO RGD:1323788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1F 11842090 SOX15 SRY-box transcription factor 15 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1323788 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11842090 SOX15 SRY-box transcription factor 15 gene DOID:11612 polycystic ovary syndrome ISO RGD:1323788 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11842090 SOX15 SRY-box transcription factor 15 gene DOID:12177 common variable immunodeficiency ISO RGD:1323788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11842090 SOX15 SRY-box transcription factor 15 gene DOID:2729 dyskeratosis congenita ISO RGD:1323788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11842090 SOX15 SRY-box transcription factor 15 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1323788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11842090 SOX15 SRY-box transcription factor 15 gene DOID:630 genetic disease ISO RGD:1323788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:736865 D RGD:9068941 20221217 RGD protein:increased expression:lung (human) PMID:29722558|REF_RGD_ID:155791445 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:0050331 LADD syndrome ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: LACRIMOAURICULODENTODIGITAL SYNDROME | ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome PMID:10851026|PMID:11121055|PMID:11390973|PMID:11781872|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16501574|PMID:16838304|PMID:17525745|PMID:18056630|PMID:18414213|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26467025|PMID:26619011|PMID:28492532|PMID:31145570|PMID:31502745|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8946174|PMID:8957519|PMID:9002682|PMID:9462761|PMID:9719378 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:0050462 Antley-Bixler syndrome with disordered steroidogenesis ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures PMID:10076886|PMID:10076887|PMID:10406670|PMID:10633130|PMID:10851026|PMID:11121055|PMID:11390973|PMID:11781872|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:15996217|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16838304|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26467025|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8434615|PMID:8651276|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9462761|PMID:9605588|PMID:9714439|PMID:9719378 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:0050660 Beare-Stevenson cutis gyrata syndrome ISO RGD:736865 D RGD:7240710 20180130 OMIM 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:0050660 Beare-Stevenson cutis gyrata syndrome ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Beare-Stevenson cutis gyrata syndrome | ClinVar Annotator: match by term: Cutis Gyrata syndrome of Beare and Stevenson PMID:10851026|PMID:11121055|PMID:11390973|PMID:11781872|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16531735|PMID:16838304|PMID:17264867|PMID:17525745|PMID:18247426|PMID:18552176|PMID:19610084|PMID:20301628|PMID:20856019|PMID:21367659|PMID:21397175|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24728327|PMID:25157968|PMID:25425289|PMID:25706251|PMID:25741868|PMID:25867380|PMID:25937001|PMID:26325558|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:27079505|PMID:28492532|PMID:31145570|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8696350|PMID:8946174|PMID:8957519|PMID:9002682|PMID:9462761|PMID:9719378 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:0050861 colorectal adenocarcinoma treatment ISO RGD:736865 D RGD:9068941 20221201 RGD human cell line in a mouse model PMID:31255687|REF_RGD_ID:155663557 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:0060321 umbilical hernia ISO RGD:10581 D RGD:9068941 20200609 RGD PMID:21238647|REF_RGD_ID:11567270 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:0080016 spina bifida ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9605588 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9002682 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma PMID:26619011 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:0080216 duodenal atresia ISO RGD:10581 D RGD:9068941 20200609 RGD PMID:15185216|REF_RGD_ID:12801491 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:0081289 Antley-Bixler syndrome ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures PMID:10076886|PMID:10076887|PMID:10406670|PMID:10633130|PMID:10851026|PMID:11121055|PMID:11390973|PMID:11781872|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:15996217|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16838304|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26467025|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8434615|PMID:8651276|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9462761|PMID:9605588|PMID:9714439|PMID:9719378 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:0081290 Antley-Bixler syndrome without disordered steroidogenesis ISO RGD:736865 D RGD:7240710 20180130 OMIM 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:0081290 Antley-Bixler syndrome without disordered steroidogenesis ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis PMID:10076886|PMID:10076887|PMID:10406670|PMID:10541159|PMID:10633130|PMID:10851026|PMID:11121055|PMID:11390973|PMID:11781872|PMID:12124745|PMID:12884424|PMID:12884434|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15316116|PMID:15389579|PMID:15975938|PMID:15996217|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16838304|PMID:16969861|PMID:17251833|PMID:17525745|PMID:18552176|PMID:20133659|PMID:20301628|PMID:20489451|PMID:21367659|PMID:22238366|PMID:22558232|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23786770|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25271085|PMID:25741868|PMID:25759925|PMID:25867380|PMID:26362256|PMID:26380986|PMID:26467025|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7607643|PMID:7668257|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8434615|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9385368|PMID:9462761|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:0090020 split hand-foot malformation ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectrodactyly PMID:25741868 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:0111337 Jackson-Weiss syndrome ISO RGD:736865 D RGD:7240710 20180130 OMIM 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:0111337 Jackson-Weiss syndrome ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome PMID:10541159|PMID:10633130|PMID:10851026|PMID:11121055|PMID:11390973|PMID:11556600|PMID:11781872|PMID:12124745|PMID:12884424|PMID:12884434|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16838304|PMID:17525745|PMID:18552176|PMID:19066959|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:22665975|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24728327|PMID:25157968|PMID:25271085|PMID:25741868|PMID:25759925|PMID:25867380|PMID:26362256|PMID:26380986|PMID:26467025|PMID:26619011|PMID:27481450|PMID:28492532|PMID:31145570|PMID:7581378|PMID:7655462|PMID:7719329|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8528214|PMID:8644708|PMID:8651276|PMID:8946174|PMID:8957519|PMID:9002682|PMID:9385368|PMID:9462761|PMID:9586546|PMID:9677057|PMID:9719378 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:10003 sensorineural hearing loss ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:19461658|PMID:30311386|PMID:34652575 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:10283 prostate cancer ISO RGD:2611 D RGD:9068941 20200609 RGD mRNA:splice variant::shift from Fgfr2IIIb to Fgfr2IIIc in malignancy, restoration of Fgfr2IIIb slows growth PMID:9537256|REF_RGD_ID:2289859 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:10283 prostate cancer ISO RGD:736865 D RGD:9068941 20200609 RGD mRNA:alternative form:prostate:switch from isoform IIIb to IIIc PMID:11170144|REF_RGD_ID:2289746 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:10283 prostate cancer ISO RGD:736865 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:9285567|REF_RGD_ID:2289086 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:736865 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate:isoforms IIIb and IIIc, decrease in IIIb associated with progression to androgen-independence PMID:12111699|REF_RGD_ID:2289728 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:10283 prostate cancer no_association ISO RGD:736865 D RGD:9068941 20200609 RGD DNA:mutation,polymorphism:exons:no mutations or polymorphisms found in patient or cell line DNA to explain changes in expression seen in other studies PMID:11069376|REF_RGD_ID:2289845 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:10486 intestinal atresia ISO RGD:10581 D RGD:9068941 20220825 MouseDO 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:10534 stomach cancer ISO RGD:736865 D RGD:7240710 20220209 OMIM 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:10534 stomach cancer ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10394936|PMID:10851026|PMID:11121055|PMID:11325814|PMID:11390973|PMID:11781872|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16838304|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25759927|PMID:25867380|PMID:26380986|PMID:26467025|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7655462|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8957519|PMID:9002682|PMID:9462761|PMID:9700203|PMID:9719378 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:10534 stomach cancer severity ISO RGD:736865 D RGD:9068941 20200609 RGD protein:increased expression:stomach (human) PMID:9816310|REF_RGD_ID:12801419 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:10584 retinitis pigmentosa treatment ISO RGD:2611 D RGD:9068941 20200609 RGD PMID:11319911|REF_RGD_ID:12801430 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:1059 intellectual disability ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16465081 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:10762 portal hypertension ISO RGD:2611 D RGD:9068941 20230202 RGD mRNA, protein:decreased expression:esophagus mucosa (rat) PMID:8644008|REF_RGD_ID:155882599 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:10825 essential hypertension sexual_dimorphism ISO RGD:2611 D RGD:9068941 20221217 RGD mRNA, protein:decreased expression:inferior vagus X ganglion, nucleus of solitary tract (rat) PMID:31626954|REF_RGD_ID:155791444 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:10892 hypospadias ISO RGD:2611 D RGD:9068941 20200609 RGD mRNA:decreased expression:male genital tubercle (rat) PMID:19464577|REF_RGD_ID:2314151 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:11054 urinary bladder cancer ISO RGD:736865 D RGD:9068941 20200609 RGD DNA:hypermethylation, loss of heterozygosity, deletions:exon (human) PMID:10602477|REF_RGD_ID:2301193 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:11054 urinary bladder cancer ISO RGD:736865 D RGD:9068941 20200609 RGD associated with Acrocephalosyndactylia/Apert Syndrome (MeSH:D000168); DNA:transversion:cds:758C>G amino acid P253R PMID:16969861|REF_RGD_ID:2289664 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:1107 esophageal carcinoma ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus PMID:25157968|PMID:26619011 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:11934 head and neck cancer ISO RGD:736865 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Head and neck neoplasm PMID:11390973|PMID:12124745|PMID:15389579|PMID:16969861|PMID:17251833|PMID:20489451|PMID:23786770|PMID:24656465|PMID:25741868|PMID:25867380|PMID:28492532|PMID:31145570|PMID:7668257|PMID:7719344|PMID:8651276|PMID:9677057|PMID:9700203 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:12960 acrocephalosyndactylia ISO RGD:736865 D RGD:7240710 20180130 OMIM 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:12960 acrocephalosyndactylia ISO RGD:736865 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acrocephalosyndactyly type I | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly | ClinVar Annotator: match by term: Syndactylic oxycephaly PMID:10394936|PMID:10618369|PMID:10633130|PMID:10851026|PMID:11121055|PMID:11173845|PMID:11390973|PMID:11781872|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12400058|PMID:12884424|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15975938|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16969861|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:18552176|PMID:18726952|PMID:20133659|PMID:20301628|PMID:20489451|PMID:21367659|PMID:22238366|PMID:22558232|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23786770|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25271085|PMID:25425289|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:28166811|PMID:28492532|PMID:31145570|PMID:7607643|PMID:7668257|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:9150725|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9536098|PMID:9677057|PMID:9700203|PMID:9719378|PMID:9973282 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:12960 acrocephalosyndactylia ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acrocephalosyndactyly type I | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly | ClinVar Annotator: match by term: Craniofacial-skeletal-dermatologic dysplasia | ClinVar Annotator: match by term: Syndactylic oxycephaly PMID:10394936|PMID:10618369|PMID:10633130|PMID:10851026|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11390973|PMID:11781872|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12357470|PMID:12400058|PMID:12884424|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15975938|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16531735|PMID:16838304|PMID:16969861|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:18552176|PMID:18618990|PMID:18726952|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20856019|PMID:21367659|PMID:21397175|PMID:22238366|PMID:22558232|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23786770|PMID:23787031|PMID:23908597|PMID:24016645|PMID:24036790|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25271085|PMID:25425289|PMID:25706251|PMID:25741868|PMID:25867380|PMID:25937001|PMID:26325558|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:27079505|PMID:27683237|PMID:28492532|PMID:28611549|PMID:30919572|PMID:31145570|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:9002682|PMID:9150725|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9536098|PMID:9677057|PMID:9700203|PMID:9719378|PMID:9973282 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:12960 acrocephalosyndactylia severity ISO RGD:736865 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P253R (human) PMID:10735635|REF_RGD_ID:12801488 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:12960 acrocephalosyndactylia treatment ISO RGD:10581 D RGD:9068941 20200609 RGD PMID:17694057|REF_RGD_ID:12801474 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:736865 D RGD:9068941 20221217 RGD protein:increased expression:lung (human) PMID:29722558|REF_RGD_ID:155791445 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:14705 Pfeiffer syndrome ISO RGD:736865 D RGD:7240710 20180130 OMIM 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:14705 Pfeiffer syndrome ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10541159|PMID:10633130|PMID:10851026|PMID:10874645|PMID:10945669|PMID:11121055|PMID:11325814|PMID:11390973|PMID:11781872|PMID:11807866|PMID:12124745|PMID:12400058|PMID:12884424|PMID:12884434|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15523615|PMID:15975938|PMID:15996217|PMID:16158432|PMID:16199547|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16838304|PMID:17525745|PMID:17576681|PMID:17803937|PMID:18541976|PMID:18552176|PMID:18618990|PMID:19066959|PMID:20133659|PMID:20301628|PMID:20503384|PMID:20643727|PMID:21367659|PMID:22238366|PMID:22558232|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23786770|PMID:23787031|PMID:23908597|PMID:24016645|PMID:24036790|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25271085|PMID:25361936|PMID:25741868|PMID:25759925|PMID:25759927|PMID:25867380|PMID:26289989|PMID:26362256|PMID:26380986|PMID:26467025|PMID:26619011|PMID:27028366|PMID:27228464|PMID:27481450|PMID:27683237|PMID:27803855|PMID:28492532|PMID:31145570|PMID:31754721|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7719333|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8434615|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9150725|PMID:9385368|PMID:9462761|PMID:9475591|PMID:9531645|PMID:9536098|PMID:9586546|PMID:9605588|PMID:9700203|PMID:9714439|PMID:9719378 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:14768 Saethre-Chotzen syndrome ISO RGD:736865 D RGD:7240710 20180725 OMIM 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:14768 Saethre-Chotzen syndrome ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chotzen syndrome | ClinVar Annotator: match by term: Saethre-Chotzen syndrome PMID:10851026|PMID:11121055|PMID:11390973|PMID:11781872|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16838304|PMID:17264867|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24728327|PMID:25157968|PMID:25425289|PMID:25741868|PMID:25867380|PMID:26325558|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8946174|PMID:8957519|PMID:9002682|PMID:9462761|PMID:9585583|PMID:9719378 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:1612 breast cancer ISO RGD:736865 D RGD:9068941 20200609 RGD DNA:SNP:intron:dbSNP ID rs2981582, p=2X10-76 PMID:17529967|REF_RGD_ID:2289657 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:1612 breast cancer ISO RGD:736865 D RGD:9068941 20200609 RGD sporadic postmenopausal breast cancer; DNA:SNP:intron:dbSNP ID rs1219648, p=1.1x10-10 PMID:17529973|REF_RGD_ID:2289658 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:1612 breast cancer exacerbates ISO RGD:10581 D RGD:9068941 20221208 RGD PMID:23185502|REF_RGD_ID:155663674 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:1657 ventricular septal defect ISO RGD:10581 D RGD:9068941 20221203 RGD PMID:16687131|REF_RGD_ID:155663670 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:1749 squamous cell carcinoma ISO RGD:736865 D RGD:9068941 20200609 RGD cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells PMID:17306351|REF_RGD_ID:2289084 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:1923 disorder of sexual development ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:1936 atherosclerosis treatment ISO RGD:10581 D RGD:9068941 20221217 RGD PMID:24224032|REF_RGD_ID:155791446 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2611 D RGD:9068941 20230202 RGD associated with Experimental Diabetes Mellitus PMID:22432030|REF_RGD_ID:155882598 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:227 ankylosis ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9605588 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:2339 Crouzon syndrome ISO RGD:736865 D RGD:7240710 20180130 OMIM 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:2339 Crouzon syndrome ISO RGD:736865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniofacial dysostosis | ClinVar Annotator: match by term: Craniofacial dysostosis type 1 | ClinVar Annotator: match by term: Crouzon disease | ClinVar Annotator: match by term: Crouzon syndrome PMID:10067911|PMID:10394936|PMID:10541159|PMID:10633130|PMID:10712195|PMID:10735635|PMID:10851026|PMID:10874645|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11325814|PMID:11343323|PMID:11390973|PMID:11556600|PMID:11711827|PMID:11781872|PMID:11870239|PMID:12124745|PMID:12186468|PMID:12357470|PMID:12477974|PMID:12884424|PMID:12884434|PMID:14499350|PMID:14695532|PMID:14972326|PMID:1519658|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15793702|PMID:15883293|PMID:15975938|PMID:16061565|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16501574|PMID:16740155|PMID:16838304|PMID:1697263|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:18552176|PMID:18726952|PMID:19066959|PMID:19610084|PMID:20133659|PMID:20301628|PMID:20503384|PMID:20643727|PMID:21367659|PMID:2172978|PMID:22238366|PMID:22387015|PMID:22558232|PMID:22664175|PMID:22665975|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23787031|PMID:23908597|PMID:23995961|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25361936|PMID:25425289|PMID:25741868|PMID:25759925|PMID:25759927|PMID:25867380|PMID:26325558|PMID:26362256|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26557159|PMID:26619011|PMID:27028366|PMID:27228464|PMID:27430617|PMID:27481450|PMID:27683237|PMID:28492532|PMID:28611549|PMID:28901406|PMID:29037998|PMID:31145570|PMID:4078868|PMID:7573032|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7719329|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8522336|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8755573|PMID:8946174|PMID:8957519|PMID:9002682|PMID:9048930|PMID:9152842|PMID:9169049|PMID:9385368|PMID:9462761|PMID:9521581|PMID:9536098|PMID:9539778|PMID:9585583|PMID:9586546|PMID:9677057|PMID:9700203|PMID:9719378 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:2340 craniosynostosis ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2 related craniosynostosis PMID:10067911|PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10541159|PMID:10574673|PMID:10618369|PMID:10633130|PMID:10712195|PMID:10735635|PMID:10851026|PMID:10874645|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11325814|PMID:11343323|PMID:11390973|PMID:11556600|PMID:11711827|PMID:11781872|PMID:11807866|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12357470|PMID:12400058|PMID:12477974|PMID:12575031|PMID:12575301|PMID:12884424|PMID:12884434|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:1519658|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15523615|PMID:15793702|PMID:15863034|PMID:15883293|PMID:15975938|PMID:15996217|PMID:16061565|PMID:16158432|PMID:16199547|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16501574|PMID:16531735|PMID:16740155|PMID:16838304|PMID:16969861|PMID:1697263|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:17803937|PMID:18247426|PMID:18391498|PMID:18541976|PMID:18552176|PMID:18618990|PMID:18726952|PMID:19066959|PMID:19610084|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20643727|PMID:20856019|PMID:21189955|PMID:21367659|PMID:21397175|PMID:2172978|PMID:22238366|PMID:22387015|PMID:22558232|PMID:22664175|PMID:22665975|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23786770|PMID:23787031|PMID:23908597|PMID:23995961|PMID:24016645|PMID:24036790|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25129254|PMID:25157968|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25361936|PMID:25425289|PMID:25706251|PMID:25741868|PMID:25759925|PMID:25759927|PMID:25867380|PMID:25937001|PMID:26289989|PMID:26362256|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:270283566|PMID:27028366|PMID:27079505|PMID:27228464|PMID:27481450|PMID:27683237|PMID:27803855|PMID:28166811|PMID:28492532|PMID:28611549|PMID:28901406|PMID:29037998|PMID:29109840|PMID:31145570|PMID:4078868|PMID:7558045|PMID:7573032|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719333|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7795583|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8522336|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9048930|PMID:9150725|PMID:9385368|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9536098|PMID:9539778|PMID:9585583|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:2340 craniosynostosis ISO RGD:736865 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2 related craniosynostosis PMID:10067911|PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10574673|PMID:10618369|PMID:10633130|PMID:10712195|PMID:10735635|PMID:10851026|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11325814|PMID:11343323|PMID:11390973|PMID:11711827|PMID:11781872|PMID:11807866|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12357470|PMID:12400058|PMID:12884424|PMID:12884434|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:1519658|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15523615|PMID:15793702|PMID:15883293|PMID:15975938|PMID:15996217|PMID:16061565|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16501574|PMID:16740155|PMID:16969861|PMID:1697263|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:17803937|PMID:18247426|PMID:18541976|PMID:18552176|PMID:18726952|PMID:19610084|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20643727|PMID:21367659|PMID:2172978|PMID:22238366|PMID:22387015|PMID:22558232|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23786770|PMID:23787031|PMID:23908597|PMID:23995961|PMID:24016645|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25425289|PMID:25741868|PMID:25867380|PMID:26362256|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:27028366|PMID:27683237|PMID:27803855|PMID:28166811|PMID:28492532|PMID:28611549|PMID:28901406|PMID:31145570|PMID:4078868|PMID:7573032|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8522336|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9048930|PMID:9150725|PMID:9385368|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9536098|PMID:9539778|PMID:9585583|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:2340 craniosynostosis ISO RGD:736865 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2 related craniosynostosis PMID:10067911|PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10574673|PMID:10618369|PMID:10633130|PMID:10712195|PMID:10735635|PMID:10851026|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11325814|PMID:11343323|PMID:11390973|PMID:11711827|PMID:11781872|PMID:11807866|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12357470|PMID:12400058|PMID:12884424|PMID:12884434|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:1519658|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15523615|PMID:15793702|PMID:15883293|PMID:15975938|PMID:15996217|PMID:16061565|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16501574|PMID:16740155|PMID:16838304|PMID:16969861|PMID:1697263|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:17803937|PMID:18247426|PMID:18541976|PMID:18552176|PMID:18726952|PMID:19610084|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20643727|PMID:21367659|PMID:2172978|PMID:22238366|PMID:22387015|PMID:22558232|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23786770|PMID:23787031|PMID:23908597|PMID:23995961|PMID:24016645|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25425289|PMID:25741868|PMID:25867380|PMID:26362256|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:27028366|PMID:27683237|PMID:27803855|PMID:28166811|PMID:28492532|PMID:28611549|PMID:28901406|PMID:31145570|PMID:4078868|PMID:7573032|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8522336|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9048930|PMID:9150725|PMID:9385368|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9536098|PMID:9539778|PMID:9585583|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:2340 craniosynostosis ISO RGD:736865 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:10067911|PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10574673|PMID:10618369|PMID:10633130|PMID:10712195|PMID:10735635|PMID:10851026|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11325814|PMID:11343323|PMID:11390973|PMID:11711827|PMID:11781872|PMID:11807866|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12357470|PMID:12400058|PMID:12884424|PMID:12884434|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:1519658|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15523615|PMID:15793702|PMID:15883293|PMID:15975938|PMID:15996217|PMID:16061565|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16501574|PMID:16740155|PMID:16838304|PMID:16969861|PMID:1697263|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:17803937|PMID:18247426|PMID:18541976|PMID:18552176|PMID:18726952|PMID:19610084|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20643727|PMID:21367659|PMID:2172978|PMID:22238366|PMID:22387015|PMID:22558232|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23786770|PMID:23787031|PMID:23908597|PMID:23995961|PMID:24016645|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25361936|PMID:25425289|PMID:25741868|PMID:25867380|PMID:26362256|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:27028366|PMID:27683237|PMID:27803855|PMID:28166811|PMID:28492532|PMID:28611549|PMID:28901406|PMID:31145570|PMID:4078868|PMID:7573032|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8522336|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9048930|PMID:9150725|PMID:9385368|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9536098|PMID:9539778|PMID:9585583|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:2340 craniosynostosis ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:10067911|PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10541159|PMID:10574673|PMID:10618369|PMID:10633130|PMID:10712195|PMID:10735635|PMID:10851026|PMID:10874645|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11325814|PMID:11343323|PMID:11390973|PMID:11556600|PMID:11711827|PMID:11781872|PMID:11807866|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12186468|PMID:12357470|PMID:12400058|PMID:12477974|PMID:12575301|PMID:12884424|PMID:12884434|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:1519658|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15523615|PMID:15793702|PMID:15883293|PMID:15975938|PMID:15996217|PMID:16061565|PMID:16158432|PMID:16199547|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16501574|PMID:16531735|PMID:16740155|PMID:16838304|PMID:16969861|PMID:1697263|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:17803937|PMID:17873121|PMID:18247426|PMID:18391498|PMID:18414213|PMID:18541976|PMID:18552176|PMID:18618990|PMID:18726952|PMID:19066959|PMID:19610084|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20643727|PMID:20856019|PMID:21189955|PMID:21367659|PMID:21397175|PMID:21524234|PMID:2172978|PMID:22238366|PMID:22387015|PMID:22558232|PMID:22664175|PMID:22665975|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23786770|PMID:23787031|PMID:23908597|PMID:23995961|PMID:24016645|PMID:24036790|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25129254|PMID:25157968|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25361936|PMID:25425289|PMID:25706251|PMID:25741868|PMID:25759925|PMID:25759927|PMID:25867380|PMID:25937001|PMID:26289989|PMID:26325558|PMID:26362256|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26557159|PMID:26619011|PMID:27028366|PMID:27079505|PMID:27228464|PMID:27430617|PMID:27481450|PMID:27527345|PMID:27683237|PMID:27803855|PMID:28492532|PMID:28611549|PMID:28901406|PMID:28990276|PMID:29037998|PMID:29095814|PMID:29109840|PMID:30919572|PMID:31145570|PMID:31502745|PMID:31754721|PMID:32595695|PMID:33937142|PMID:35802133|PMID:36633841|PMID:4078868|PMID:7573032|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719333|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7795583|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8522336|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9048930|PMID:9150725|PMID:9152842|PMID:9385368|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9531645|PMID:9536098|PMID:9539778|PMID:9585583|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378|PMID:9973282 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:2671 transitional cell carcinoma ISO RGD:736865 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:urinary bladder PMID:9018118|REF_RGD_ID:2301194 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:2871 endometrial carcinoma ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10851026|PMID:11121055|PMID:11390973|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16440883|PMID:16531735|PMID:17525745|PMID:18552176|PMID:20301628|PMID:20856019|PMID:21367659|PMID:21397175|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24489893|PMID:25157968|PMID:25706251|PMID:25741868|PMID:25867380|PMID:25937001|PMID:26380986|PMID:26619011|PMID:27079505|PMID:28492532|PMID:31145570|PMID:7719344|PMID:8651276|PMID:8696350|PMID:9002682|PMID:9462761|PMID:9719378 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:289 endometriosis ISO RGD:736865 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary, epithelial cell PMID:17482184|REF_RGD_ID:2301191 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:289 endometriosis no_association ISO RGD:736865 D RGD:9068941 20200609 RGD DNA:SNPs PMID:18285324|REF_RGD_ID:2301190 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:363 uterine cancer ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:10851026|PMID:11121055|PMID:11390973|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16440883|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:23908597|PMID:24016645|PMID:24489893|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7719344|PMID:8651276|PMID:9002682|PMID:9462761|PMID:9719378 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:37 skin disease ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:3717 gastric adenocarcinoma ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:10851026|PMID:11121055|PMID:11390973|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16440883|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24489893|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7719344|PMID:8651276|PMID:9002682|PMID:9462761|PMID:9719378 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:736865 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:23786770|PMID:25741868|PMID:9150725 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:3910 lung adenocarcinoma ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:17525745|PMID:18552176|PMID:22238366|PMID:23002168|PMID:23908597|PMID:25157968|PMID:26619011 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:4441 dysgerminoma ISO RGD:736865 D RGD:9068941 20200609 RGD associated with Acrocephalosyndactylia/Apert Syndrome (MeSH:D000168); DNA:transversion,duplication:cds:758C>G amino acid P253R, duplication of 10q26 resulting in one extra copy of FGFR2 PMID:17243131|REF_RGD_ID:2289660 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:4947 cholangiocarcinoma ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26258846 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:5082 liver cirrhosis ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17692400 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:5517 stomach carcinoma treatment ISO RGD:736865 D RGD:9068941 20221201 RGD human cell line in a mouse model PMID:31255687|REF_RGD_ID:155663557 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:5844 myocardial infarction ameliorates ISO RGD:10581 D RGD:9068941 20221201 RGD PMID:19358330|REF_RGD_ID:155663664 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:6171 uterine carcinosarcoma ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:10851026|PMID:11121055|PMID:11390973|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16440883|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24489893|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7719344|PMID:8651276|PMID:9002682|PMID:9462761|PMID:9719378 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:630 genetic disease ISO RGD:736865 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10067911|PMID:10618369|PMID:10633130|PMID:10712195|PMID:10735635|PMID:11173845|PMID:11343323|PMID:11781872|PMID:12884424|PMID:1519658|PMID:15793702|PMID:15883293|PMID:16061565|PMID:16418739|PMID:16501574|PMID:16740155|PMID:17693524|PMID:18726952|PMID:19610084|PMID:22387015|PMID:24127277|PMID:24486773|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25741868|PMID:26362256|PMID:26446305|PMID:26573129|PMID:27028366|PMID:27240702|PMID:28492532|PMID:28901406|PMID:4078868|PMID:7573032|PMID:7655462|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8528214|PMID:8755573|PMID:9585583 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:674 cleft palate ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255|PMID:29526646 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:736865 D RGD:9068941 20200820 RGD associated with hepatitis B;DNA:SNPs: promoter, intron:rs308379, rs1219648 (human) PMID:30952770|REF_RGD_ID:38501096 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:7843 female breast carcinoma treatment ISO RGD:736865 D RGD:9068941 20221201 RGD human cell line in a mouse model PMID:31255687|REF_RGD_ID:155663557 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:8632 Kaposi's sarcoma ISO RGD:736865 D RGD:9068941 20221203 RGD mRNA:increased expression:zone of skin (human) PMID:18804962|REF_RGD_ID:155663668 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:8634 prostate carcinoma in situ ISO RGD:10581 D RGD:9068941 20200609 RGD PMID:14695195|REF_RGD_ID:2301192 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:736865 D RGD:9068941 20200609 RGD associated with breast cancer;DNA:snp:intron:c.109+7033T>A (rs1219648) (human) PMID:20640597|REF_RGD_ID:7394846 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9000146 Plaque, Atherosclerotic exacerbates ISO RGD:736865 D RGD:9068941 20221201 RGD mRNA, protein:decreased expression:carotid artery segment (human) PMID:24075588|REF_RGD_ID:155663561 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:736865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Gastric neoplasm | ClinVar Annotator: match by term: Stomach Neoplasms PMID:11781872|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16838304|PMID:24127277|PMID:25741868|PMID:28492532|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8946174|PMID:8957519 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9000509 Epstein-Barr Virus Infections no_association ISO RGD:736865 D RGD:9068941 20200813 RGD DNA:missense mutation:cds:(rs755793) (human) PMID:29446487|REF_RGD_ID:38500242 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9000967 Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development ISO RGD:736865 D RGD:7240710 20180130 OMIM 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9000967 Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND IMPAIRED INTELLECTUAL DEVELOPMENT PMID:10851026|PMID:11121055|PMID:11390973|PMID:11781872|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16061565|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16838304|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26467025|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8946174|PMID:8957519|PMID:9002682|PMID:9169049|PMID:9462761|PMID:9719378 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9001258 Bent Bone Dysplasia Syndrome 1 ISO RGD:736865 D RGD:7240710 20180130 OMIM 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9001258 Bent Bone Dysplasia Syndrome 1 ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: BENT BONE DYSPLASIA SYNDROME 1 PMID:10851026|PMID:11121055|PMID:11390973|PMID:11781872|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16838304|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22387015|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26446305|PMID:26467025|PMID:26573129|PMID:26619011|PMID:27240702|PMID:28492532|PMID:31145570|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8946174|PMID:8957519|PMID:9002682|PMID:9462761|PMID:9719378 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9001347 Leg Ulcer ISO RGD:736865 D RGD:9068941 20221201 RGD associated with chronic venous insufficiency;DNA:SNP:3' utr: (human) PMID:15854058|REF_RGD_ID:155663562 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9001471 Anorectal Malformations ISO RGD:2611 D RGD:9068941 20200609 RGD mRNA:decreased expression:rectum (rat) PMID:26514922|REF_RGD_ID:11052641 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9001519 Acneiform Eruptions ISO RGD:736865 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.S252W (human) PMID:18410418|REF_RGD_ID:12801492 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9001553 Spinal Cord Compression ISO RGD:2611 D RGD:9068941 20221208 RGD protein:increased expression:spinal cord (rat) PMID:28981091|REF_RGD_ID:155782905 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9001946 Skin Abnormalities ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10631169 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:736865 D RGD:9068941 20200609 RGD epithelial ovarian cancer (OMIM:604370); mRNA:increased expression:ovary PMID:11593393|REF_RGD_ID:2289733 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9003133 Hypertelorism ISO RGD:736865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:11781872|PMID:12884424|PMID:20643727|PMID:23348274|PMID:23754559|PMID:25271085|PMID:25741868|PMID:27228464|PMID:27683237|PMID:28492532|PMID:7874170 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:736865 D RGD:9068941 20200609 RGD cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells PMID:17306351|REF_RGD_ID:2289084 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9003730 Chemical Burns ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation PMID:10851026|PMID:11121055|PMID:11390973|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16440883|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:23908597|PMID:24016645|PMID:24489893|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7719344|PMID:8651276|PMID:9002682|PMID:9462761|PMID:9719378 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9004309 Congenital Aural Atresia ISO RGD:736865 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Aural atresia, congenital PMID:23786770|PMID:25741868|PMID:9150725 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:10581 D RGD:9068941 20221201 RGD associated with hypertension PMID:16549517|REF_RGD_ID:155663564 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9004849 LADD Syndrome 1 ISO RGD:736865 D RGD:7240710 20230111 OMIM 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9005172 Lung Neoplasms ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17311802 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nasopharyngeal Neoplasms | ClinVar Annotator: match by term: Nasopharyngeal neoplasm PMID:17525745|PMID:18552176|PMID:22238366|PMID:23002168|PMID:23908597|PMID:25157968|PMID:26619011 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10581 D RGD:9068941 20221203 RGD protein:increased phosphorylation:kidney (mouse) PMID:20591940|REF_RGD_ID:155663667 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9006223 Kidney Reperfusion Injury ameliorates ISO RGD:10581 D RGD:9068941 20221208 RGD PMID:29344510|REF_RGD_ID:155782904 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9006223 Kidney Reperfusion Injury exacerbates ISO RGD:10581 D RGD:9068941 20221208 RGD PMID:32523960|REF_RGD_ID:155782882 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9006223 Kidney Reperfusion Injury exacerbates ISO RGD:2611 D RGD:9068941 20230128 RGD PMID:22688984|REF_RGD_ID:155882537 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9006287 Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Metaphyseal dysplasia, anetoderma, and optic atrophy PMID:10851026|PMID:11121055|PMID:11390973|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16440883|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24489893|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7719344|PMID:8651276|PMID:9002682|PMID:9462761|PMID:9719378 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9006294 Congenital Limb Deformities ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10631169 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9006827 Lung Reperfusion Injury ISO RGD:736865 D RGD:9068941 20221201 RGD mRNA:increased expression:lung (rat) PMID:35600952|REF_RGD_ID:155663563 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9007653 Multiple Abnormalities ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10631169 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Endometrial neoplasm PMID:10851026|PMID:11121055|PMID:11390973|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16440883|PMID:16531735|PMID:17525745|PMID:18247426|PMID:18552176|PMID:20301628|PMID:20856019|PMID:21367659|PMID:21397175|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:25157968|PMID:25706251|PMID:25741868|PMID:25867380|PMID:25937001|PMID:26380986|PMID:26619011|PMID:27079505|PMID:28492532|PMID:31145570|PMID:7719344|PMID:8651276|PMID:8696350|PMID:9002682|PMID:9462761|PMID:9719378 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9007715 Endometrial Neoplasms susceptibility ISO RGD:736865 D RGD:9068941 20200609 RGD DNA:SNP PMID:18785201|REF_RGD_ID:2301188 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9008082 Plagiocephaly, Nonsynostotic ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9152842 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:736865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:10851026|PMID:11781872|PMID:15316116|PMID:15523615|PMID:16158432|PMID:16418739|PMID:16838304|PMID:17264867|PMID:17803937|PMID:18541976|PMID:20133659|PMID:22558232|PMID:24127277|PMID:24728327|PMID:25271085|PMID:25425289|PMID:25741868|PMID:26325558|PMID:26429889|PMID:26467025|PMID:28492532|PMID:7607643|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8650126|PMID:8755573|PMID:8957519 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:736865 D RGD:9068941 20200609 RGD associated with Craniosynostoses;DNA:missense mutations:cds:p.C342R, p.S252W (human) PMID:27481450|REF_RGD_ID:12801473 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:2611 D RGD:9068941 20200609 RGD associated with Esophageal Atresia;mRNA:decreased expression: tracheoesophageal septum, epithelium, mesenchyme (rat) PMID:15065023|REF_RGD_ID:12801427 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:10581 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.S250W (mouse) PMID:21538817|REF_RGD_ID:11251832 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10631169|PMID:16465081|PMID:18082115 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:17525745|PMID:18552176|PMID:22238366|PMID:23002168|PMID:23908597|PMID:25157968|PMID:26619011 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9009007 Tooth Abnormalities ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10631169 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9256 colorectal cancer ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9296 cleft lip ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 11842100 FGFR2 fibroblast growth factor receptor 2 gene DOID:9923 developmental coordination disorder ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16465081 11842100 Fgfr2 fibroblast growth factor receptor 2 gene DOID:10533 viral pneumonia ISO RGD:10581 D RGD:9068941 20210611 RGD protein:increased expression:epithelial stem/progenitor cells (mouse) PMID:27322618|REF_RGD_ID:127284849 11842136 DNAJB8 DnaJ heat shock protein family (Hsp40) member B8 gene DOID:0111947 immunodeficiency 21 ISO RGD:1343992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:21670465|PMID:22147895|PMID:23223431|PMID:28492532 11842136 DNAJB8 DnaJ heat shock protein family (Hsp40) member B8 gene DOID:630 genetic disease ISO RGD:1343992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11842136 DNAJB8 DnaJ heat shock protein family (Hsp40) member B8 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1343992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:21670465|PMID:22147895|PMID:2322343|PMID:23223431|PMID:25741868|PMID:26710799|PMID:28492532|PMID:29146883|PMID:29724903|PMID:31710708 11842136 DNAJB8 DnaJ heat shock protein family (Hsp40) member B8 gene DOID:9270 alkaptonuria ISO RGD:1343992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11842143 LOC100981854 cyclic AMP-dependent transcription factor ATF-7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11842143 LOC100981854 cyclic AMP-dependent transcription factor ATF-7 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1312669 D RGD:9068941 20200609 RGD PMID:26148593|REF_RGD_ID:11055686 11842180 FBXO32 F-box protein 32 gene DOID:0060224 atrial fibrillation ISO RGD:734419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11842180 FBXO32 F-box protein 32 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:734419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11842180 FBXO32 F-box protein 32 gene DOID:630 genetic disease ISO RGD:734419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11842180 FBXO32 F-box protein 32 gene DOID:767 muscular atrophy ISO RGD:620373 D RGD:9068941 20200609 RGD PMID:11679633|REF_RGD_ID:633893 11842180 FBXO32 F-box protein 32 gene DOID:767 muscular atrophy ISO RGD:734419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21139329 11842193 ANK2 ankyrin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:28492532 11842193 ANK2 ankyrin 2 gene DOID:0050451 Brugada syndrome ISO RGD:1317291 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:23631430|PMID:23861362|PMID:25741868|PMID:26230511|PMID:28492532|PMID:30847666 11842193 ANK2 ankyrin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12571597|PMID:15075330|PMID:15178757|PMID:16253912|PMID:17161064|PMID:17242276|PMID:18782775|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24448499|PMID:24828792|PMID:25351510|PMID:25649125|PMID:25741868|PMID:26159999|PMID:26168218|PMID:26230511|PMID:27298202|PMID:27435932|PMID:28074886|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28750076|PMID:28988457|PMID:30276209|PMID:30615648|PMID:31638414|PMID:33029862 11842193 ANK2 ankyrin 2 gene DOID:0050790 fibular hypoplasia and complex brachydactyly ISO RGD:1317291 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Du pan syndrome PMID:228900|PMID:258150 11842193 ANK2 ankyrin 2 gene DOID:0050824 sinoatrial node disease ISO RGD:1620669 D RGD:9068941 20220825 MouseDO 11842193 ANK2 ankyrin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11842193 ANK2 ankyrin 2 gene DOID:0060224 atrial fibrillation ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:17161064|PMID:23861362|PMID:24448499|PMID:25649125|PMID:25741868|PMID:26159999|PMID:28492532 11842193 ANK2 ankyrin 2 gene DOID:0060224 atrial fibrillation onset ISO RGD:1317291 D RGD:9068941 20200609 RGD PMID:21859974|REF_RGD_ID:6767284 11842193 ANK2 ankyrin 2 gene DOID:0060319 cardiac arrest ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:25741868|PMID:28492532|PMID:28600387|PMID:30564305 11842193 ANK2 ankyrin 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:16253912|PMID:22581653|PMID:25351510|PMID:25741868|PMID:26771585|PMID:28191889|PMID:28492532|PMID:30564305 11842193 ANK2 ankyrin 2 gene DOID:0070188 spermatogenic failure 1 ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligosynaptic infertility PMID:228900|PMID:258150 11842193 ANK2 ankyrin 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:1317291 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:12571597|PMID:15178757|PMID:16253912|PMID:16650839|PMID:17242276|PMID:18832177|PMID:22581653|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26350513|PMID:28074886|PMID:28492532|PMID:28988457|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29790872|PMID:7485162 11842193 ANK2 ankyrin 2 gene DOID:0110645 long QT syndrome 2 ISO RGD:1317291 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:12571597|PMID:15178757|PMID:17242276|PMID:25741868|PMID:26230511|PMID:28492532 11842193 ANK2 ankyrin 2 gene DOID:0111700 ankyrin-B-related cardiac arrhythmia ISO RGD:1317291 D RGD:7240710 20180130 OMIM 11842193 ANK2 ankyrin 2 gene DOID:0111700 ankyrin-B-related cardiac arrhythmia ISO RGD:1317291 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ANK2-associated Complex Neurodevelopmental Disorder | ClinVar Annotator: match by term: ANK2-associated Neurodevelopmental Disorder | ClinVar Annotator: match by term: ANK2-related Autism | ClinVar Annotator: match by term: ANKYRIN-B SYNDROME | ClinVar Annotator: match by term: Cardiac arrhythmia, ankyrin-B-related PMID:11334825|PMID:12571597|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16253912|PMID:16650839|PMID:16864073|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17928548|PMID:17940615|PMID:18782775|PMID:18832177|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24448499|PMID:24828792|PMID:25333069|PMID:25351510|PMID:25447171|PMID:25632041|PMID:25649125|PMID:25650408|PMID:25741868|PMID:26159999|PMID:26164358|PMID:26168218|PMID:26230511|PMID:26350513|PMID:26771585|PMID:26899768|PMID:27110552|PMID:27112610|PMID:27298202|PMID:27332903|PMID:27391121|PMID:27435932|PMID:27784853|PMID:27824329|PMID:27871843|PMID:27875062|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28166811|PMID:28191889|PMID:28255936|PMID:28263302|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28736713|PMID:28750076|PMID:28831199|PMID:28988457|PMID:29071820|PMID:29133412|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29706635|PMID:29790872|PMID:29874177|PMID:29892012|PMID:30086531|PMID:30276209|PMID:30471092|PMID:30564305|PMID:30615648|PMID:30821013|PMID:30847666|PMID:31638414|PMID:31737537|PMID:31862442|PMID:32183154|PMID:32746448|PMID:33004838|PMID:33029862|PMID:34088380|PMID:7485162 11842193 ANK2 ankyrin 2 gene DOID:0111701 long QT syndrome 4 ISO RGD:1317291 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANK2-associated Complex Neurodevelopmental Disorder | ClinVar Annotator: match by term: ANK2-associated Neurodevelopmental Disorder | ClinVar Annotator: match by term: ANK2-related Autism | ClinVar Annotator: match by term: Long QT syndrome 4 PMID:12571597|PMID:15075330|PMID:15178757|PMID:16253912|PMID:17242276|PMID:18782775|PMID:18832177|PMID:22581653|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26350513|PMID:27435932|PMID:28074886|PMID:28492532|PMID:28988457|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29790872|PMID:30615648|PMID:7485162 11842193 ANK2 ankyrin 2 gene DOID:1059 intellectual disability ISO RGD:1317291 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23396983|PMID:25351510|PMID:25741868|PMID:28255936|PMID:28492532|PMID:30847666 11842193 ANK2 ankyrin 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317291 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:12571597|PMID:15178757|PMID:17242276|PMID:22581653|PMID:23174487|PMID:25741868|PMID:26230511|PMID:28492532|PMID:28589536|PMID:28988457|PMID:30276209|PMID:31638414 11842193 ANK2 ankyrin 2 gene DOID:12271 aniridia ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 11842193 ANK2 ankyrin 2 gene DOID:12849 autistic disorder ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior 11842193 ANK2 ankyrin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:25351510|PMID:25741868|PMID:28341588|PMID:28492532|PMID:30415094|PMID:33004838 11842193 ANK2 ankyrin 2 gene DOID:13884 sick sinus syndrome susceptibility ISO RGD:1317291 D RGD:9068941 20200609 RGD PMID:15178757|REF_RGD_ID:1599114 11842193 ANK2 ankyrin 2 gene DOID:224 transient cerebral ischemia ISO RGD:620156 D RGD:9068941 20200609 RGD PMID:9202331|REF_RGD_ID:1599109 11842193 ANK2 ankyrin 2 gene DOID:2843 long QT syndrome ISO RGD:1317291 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:11334825|PMID:12571597|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16253912|PMID:16650839|PMID:16864073|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17576681|PMID:17928548|PMID:17940615|PMID:18782775|PMID:18832177|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24448499|PMID:24981977|PMID:25333069|PMID:25351510|PMID:25632041|PMID:25649125|PMID:25650408|PMID:25741868|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26168218|PMID:26230511|PMID:26350513|PMID:27110552|PMID:27298202|PMID:27391121|PMID:27435932|PMID:27784853|PMID:27854218|PMID:27875062|PMID:27930701|PMID:28074886|PMID:28166811|PMID:28191889|PMID:28255936|PMID:28341588|PMID:28492532|PMID:28600387|PMID:28736713|PMID:28750076|PMID:28988457|PMID:29071820|PMID:29133412|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29790872|PMID:29874177|PMID:30564305|PMID:30615648|PMID:30821013|PMID:30847666|PMID:7485162|PMID:9536098 11842193 ANK2 ankyrin 2 gene DOID:2843 long QT syndrome ISO RGD:1317291 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:11334825|PMID:12571597|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16253912|PMID:16650839|PMID:16864073|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17576681|PMID:17928548|PMID:17940615|PMID:18782775|PMID:18832177|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24448499|PMID:24828792|PMID:24981977|PMID:25333069|PMID:25351510|PMID:25447171|PMID:25632041|PMID:25649125|PMID:25650408|PMID:25661095|PMID:25741868|PMID:25877686|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26168218|PMID:26220970|PMID:26230511|PMID:26350513|PMID:26899768|PMID:27005929|PMID:27110552|PMID:27298202|PMID:27332903|PMID:27391121|PMID:27435932|PMID:27784853|PMID:27824329|PMID:27871843|PMID:27875062|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28166811|PMID:28191889|PMID:28255936|PMID:28263302|PMID:28341588|PMID:28492532|PMID:28600387|PMID:28736713|PMID:28750076|PMID:28831199|PMID:28855170|PMID:28988457|PMID:29071820|PMID:29133412|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29706635|PMID:29790872|PMID:29874177|PMID:29892012|PMID:30036649|PMID:30086531|PMID:30369311|PMID:30415094|PMID:30471092|PMID:30564305|PMID:30615648|PMID:30821013|PMID:30847666|PMID:31264976|PMID:31638414|PMID:31862442|PMID:33004838|PMID:33029862|PMID:33919104|PMID:34088380|PMID:7485162|PMID:9536098 11842193 ANK2 ankyrin 2 gene DOID:2843 long QT syndrome ISO RGD:1317291 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:11334825|PMID:12571597|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16253912|PMID:16650839|PMID:16864073|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17576681|PMID:17928548|PMID:17940615|PMID:18782775|PMID:18832177|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24448499|PMID:24828792|PMID:24981977|PMID:25333069|PMID:25351510|PMID:25447171|PMID:25632041|PMID:25649125|PMID:25650408|PMID:25661095|PMID:25741868|PMID:25877686|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26168218|PMID:26220970|PMID:26230511|PMID:26350513|PMID:26899768|PMID:27005929|PMID:27110552|PMID:27298202|PMID:27332903|PMID:27391121|PMID:27435932|PMID:27784853|PMID:27824329|PMID:27871843|PMID:27875062|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28166811|PMID:28191889|PMID:28255936|PMID:28263302|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28736713|PMID:28750076|PMID:28831199|PMID:28855170|PMID:28988457|PMID:29071820|PMID:29133412|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29706635|PMID:29790872|PMID:29874177|PMID:29892012|PMID:30036649|PMID:30086531|PMID:30276209|PMID:30369311|PMID:30415094|PMID:30471092|PMID:30564305|PMID:30615648|PMID:30821013|PMID:30847666|PMID:31264976|PMID:31638414|PMID:31862442|PMID:33004838|PMID:33029862|PMID:33919104|PMID:34088380|PMID:7485162|PMID:9536098 11842193 ANK2 ankyrin 2 gene DOID:2843 long QT syndrome ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:11334825|PMID:12571597|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16199547|PMID:16253912|PMID:16650839|PMID:16864073|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17576681|PMID:17928548|PMID:17940615|PMID:18782775|PMID:18832177|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24448499|PMID:24828792|PMID:24981977|PMID:25333069|PMID:25351510|PMID:25447171|PMID:25632041|PMID:25649125|PMID:25650408|PMID:25661095|PMID:25741868|PMID:25877686|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26168218|PMID:26220970|PMID:26230511|PMID:26350513|PMID:26771585|PMID:26899768|PMID:27005929|PMID:27110552|PMID:27298202|PMID:27332903|PMID:27391121|PMID:27435932|PMID:27784853|PMID:27824329|PMID:27854218|PMID:27871843|PMID:27875062|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28166811|PMID:28191889|PMID:28255936|PMID:28263302|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28736713|PMID:28750076|PMID:28831199|PMID:28855170|PMID:28988457|PMID:29071820|PMID:29133412|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29706635|PMID:29790872|PMID:29874177|PMID:29892012|PMID:30036649|PMID:30086531|PMID:30276209|PMID:30369311|PMID:30415094|PMID:30471092|PMID:30564305|PMID:30615648|PMID:30821013|PMID:30847666|PMID:31264976|PMID:31638414|PMID:31737537|PMID:31862442|PMID:32183154|PMID:32233023|PMID:32600061|PMID:32746448|PMID:33004838|PMID:33029862|PMID:33762593|PMID:33919104|PMID:34088380|PMID:7485162|PMID:9536098 11842193 ANK2 ankyrin 2 gene DOID:2843 long QT syndrome ISO RGD:1317291 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:11334825|PMID:12571597|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16199547|PMID:16253912|PMID:16650839|PMID:16864073|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17576681|PMID:17928548|PMID:17940615|PMID:18782775|PMID:18832177|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24448499|PMID:24828792|PMID:24981977|PMID:25333069|PMID:25351510|PMID:25447171|PMID:25632041|PMID:25649125|PMID:25650408|PMID:25661095|PMID:25741868|PMID:25877686|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26168218|PMID:26220970|PMID:26230511|PMID:26350513|PMID:26771585|PMID:26899768|PMID:27005929|PMID:27110552|PMID:27298202|PMID:27332903|PMID:27391121|PMID:27435932|PMID:27784853|PMID:27824329|PMID:27871843|PMID:27875062|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28166811|PMID:28191889|PMID:28255936|PMID:28263302|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28736713|PMID:28750076|PMID:28831199|PMID:28855170|PMID:28988457|PMID:29071820|PMID:29133412|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29706635|PMID:29790872|PMID:29874177|PMID:29892012|PMID:30036649|PMID:30086531|PMID:30276209|PMID:30369311|PMID:30415094|PMID:30471092|PMID:30564305|PMID:30615648|PMID:30821013|PMID:30847666|PMID:31264976|PMID:31638414|PMID:31737537|PMID:31862442|PMID:32183154|PMID:32233023|PMID:32508047|PMID:32600061|PMID:32746448|PMID:33004838|PMID:33029862|PMID:33762593|PMID:33919104|PMID:34088380|PMID:7485162|PMID:9536098 11842193 ANK2 ankyrin 2 gene DOID:2843 long QT syndrome susceptibility ISO RGD:1317291 D RGD:9068941 20200609 RGD PMID:12571597|REF_RGD_ID:734572 11842193 ANK2 ankyrin 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:28492532 11842193 ANK2 ankyrin 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1317291 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28191889|PMID:28492532|PMID:32233023 11842193 ANK2 ankyrin 2 gene DOID:6000 congestive heart failure ISO RGD:1317291 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:25741868|PMID:28492532 11842193 ANK2 ankyrin 2 gene DOID:630 genetic disease ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15262991|PMID:16253912|PMID:17576681|PMID:18790697|PMID:22581653|PMID:25351510|PMID:25741868|PMID:26771585|PMID:27784853|PMID:28191889|PMID:28492532|PMID:30564305|PMID:32183154|PMID:9536098 11842193 ANK2 ankyrin 2 gene DOID:9000006 Supraventricular Tachycardia ISO RGD:1317291 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Supraventricular tachycardia PMID:23861362|PMID:25741868|PMID:27871843|PMID:28492532 11842193 ANK2 ankyrin 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:11334825|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16253912|PMID:16650839|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17928548|PMID:17940615|PMID:18782775|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:25333069|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26168218|PMID:27298202|PMID:27435932|PMID:28074886|PMID:28492532|PMID:30615648 11842193 ANK2 ankyrin 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:11334825|PMID:15178757|PMID:15970537|PMID:16253912|PMID:16650839|PMID:17242276|PMID:17261669|PMID:22581653|PMID:23861362|PMID:25333069|PMID:25741868|PMID:28492532 11842193 ANK2 ankyrin 2 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:12571597|PMID:15178757|PMID:16253912|PMID:16650839|PMID:17242276|PMID:17928548|PMID:17940615|PMID:18832177|PMID:19394342|PMID:22411828|PMID:22581653|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24981977|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26220970|PMID:26350513|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28988457|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29790872|PMID:33919104|PMID:7485162 11842193 ANK2 ankyrin 2 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1317291 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:23861362|PMID:25741868|PMID:26230511|PMID:28492532|PMID:30847666 11842193 ANK2 ankyrin 2 gene DOID:9002955 Nerve Degeneration ISO RGD:620156 D RGD:9068941 20200609 RGD PMID:12949909|REF_RGD_ID:1599116 11842193 ANK2 ankyrin 2 gene DOID:9003163 Heart Block ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:12571597|PMID:15178757|PMID:16253912|PMID:16650839|PMID:17242276|PMID:17928548|PMID:17940615|PMID:18832177|PMID:19394342|PMID:22411828|PMID:22581653|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24981977|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26220970|PMID:26350513|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28988457|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29790872|PMID:33919104|PMID:7485162 11842193 ANK2 ankyrin 2 gene DOID:9003516 Channelopathies ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Channelopathy 11842193 ANK2 ankyrin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 11842193 ANK2 ankyrin 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1317291 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:12571597|PMID:15178757|PMID:16253912|PMID:16650839|PMID:17242276|PMID:18832177|PMID:22581653|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26350513|PMID:28074886|PMID:28492532|PMID:28988457|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29790872|PMID:7485162 11842193 ANK2 ankyrin 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1317291 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28191889|PMID:28492532|PMID:33004838 11842193 ANK2 ankyrin 2 gene DOID:9005444 Torsades de Pointes ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Torsades de pointes PMID:17161064|PMID:22581653 11842193 ANK2 ankyrin 2 gene DOID:9006030 Infant Death ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Death in infancy PMID:15075330|PMID:15178757|PMID:16253912|PMID:18782775|PMID:22581653|PMID:23631430|PMID:23861362|PMID:24025405|PMID:25351510|PMID:25741868|PMID:27435932|PMID:28492532|PMID:30615648 11842193 ANK2 ankyrin 2 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:28492532 11842193 ANK2 ankyrin 2 gene DOID:9007096 Stroke ISO RGD:1317291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 11842193 ANK2 ankyrin 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620156 D RGD:9068941 20200609 RGD PMID:9378703|REF_RGD_ID:1599110 11842193 ANK2 ankyrin 2 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death PMID:25741868|PMID:28492532 11842262 PPP1R42 protein phosphatase 1 regulatory subunit 42 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1606658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 21 PMID:28492532 11842262 PPP1R42 protein phosphatase 1 regulatory subunit 42 gene DOID:630 genetic disease ISO RGD:1606658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11842273 CAMSAP2 calmodulin regulated spectrin associated protein family member 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1604039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11842273 CAMSAP2 calmodulin regulated spectrin associated protein family member 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1604039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11842273 CAMSAP2 calmodulin regulated spectrin associated protein family member 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1604039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 11842273 CAMSAP2 calmodulin regulated spectrin associated protein family member 2 gene DOID:630 genetic disease ISO RGD:1604039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11842273 CAMSAP2 calmodulin regulated spectrin associated protein family member 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1604039 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11842273 CAMSAP2 calmodulin regulated spectrin associated protein family member 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11842306 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0050453 lissencephaly ISO RGD:1601994 D RGD:9068941 20200609 RGD DNA:frameshift mutations, missense mutations, deletion:exon, intron:multiple PMID:17559086|REF_RGD_ID:11065022 11842306 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0050557 congenital muscular dystrophy ISO RGD:1601994 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related PMID:15466003|PMID:17576681|PMID:17878207|PMID:17906881|PMID:18195152|PMID:18691338|PMID:19067344|PMID:19299310|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21727005|PMID:22323514|PMID:22554691|PMID:22995991|PMID:24033266|PMID:24123366|PMID:25326635|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26908613|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:29555514|PMID:30961548|PMID:34324503|PMID:9536098 11842306 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1601994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29302074|PMID:30937090|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098 11842306 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1601994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098 11842306 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ISO RGD:1553166 D RGD:9068941 20220825 MouseDO OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 11842306 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1601994 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11842306 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0060041 autism spectrum disorder ISO RGD:1601994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11842306 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1601994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11842306 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1601994 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:11709191|PMID:12588800|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18330676|PMID:19299310|PMID:20215985|PMID:20816175|PMID:21361872|PMID:21447391|PMID:22323514|PMID:22522420|PMID:22554691|PMID:23326386|PMID:23689641|PMID:23894383|PMID:25390965|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:27391550|PMID:27493216|PMID:28424332|PMID:28492532|PMID:28688748|PMID:29302074|PMID:29555514|PMID:31066047|PMID:32404165|PMID:33144682|PMID:33200426|PMID:9536098 11842306 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O ISO RGD:1601994 D RGD:7240710 20180130 OMIM 11842306 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O ISO RGD:1601994 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2O | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 15 PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22419172|PMID:22522420|PMID:22554691|PMID:22819665|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:23894383|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25987458|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27604308|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29096039|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:31872526|PMID:32115343|PMID:32404165|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098 11842306 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0111229 congenital muscular dystrophy-dystroglycanopathy type A ISO RGD:1601994 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies PMID:11709191|PMID:12588800|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17559086|PMID:17878207|PMID:17881266|PMID:17906881|PMID:19299310|PMID:20816175|PMID:21447391|PMID:22323514|PMID:23326386|PMID:25741868|PMID:26013959|PMID:26908613|PMID:27391550|PMID:28492532 11842306 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0111236 congenital muscular dystrophy-dystroglycanopathy type A3 ISO RGD:1601994 D RGD:7240710 20190703 OMIM 11842306 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0111236 congenital muscular dystrophy-dystroglycanopathy type A3 ISO RGD:1601994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23894383|PMID:24033266|PMID:24123366|PMID:24282183|PMID:25333069|PMID:25390965|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:29555514|PMID:30961548|PMID:33144682|PMID:33200426|PMID:34324503|PMID:9536098 11842306 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1601994 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11842306 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0112374 muscular dystrophy-dystroglycanopathy ISO RGD:1601994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to dystroglycanopathy | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22819665|PMID:23326386|PMID:23453855|PMID:23689641|PMID:23894383|PMID:24282183|PMID:24731844|PMID:25390965|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28832562|PMID:29096039|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098 11842306 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0112378 muscular dystrophy-dystroglycanopathy type B3 ISO RGD:1601994 D RGD:7240710 20180130 OMIM 11842306 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0112378 muscular dystrophy-dystroglycanopathy type B3 ISO RGD:1601994 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED PMID:11709191|PMID:12588800|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28832562|PMID:29555514|PMID:30961548|PMID:34324503|PMID:9536098 11842306 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:1059 intellectual disability ISO RGD:1601994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17878207|PMID:25741868|PMID:28492532 11842306 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:10908 hydrocephalus ISO RGD:1601994 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hydrocephalus PMID:25741868 11842306 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1601994 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy 11842306 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:630 genetic disease ISO RGD:1601994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15466003|PMID:17576681|PMID:17906881|PMID:19299310|PMID:20816175|PMID:21447391|PMID:22323514|PMID:22554691|PMID:22819665|PMID:25741868|PMID:26467025|PMID:26908613|PMID:27391550|PMID:27493216|PMID:28424332|PMID:28492532|PMID:28688748|PMID:29096039|PMID:29555514|PMID:9536098 11842306 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:9001993 Retinitis Pigmentosa 76 ISO RGD:1601994 D RGD:7240710 20190315 OMIM 11842306 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:9001993 Retinitis Pigmentosa 76 ISO RGD:1601994 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 76 PMID:11709191|PMID:12588800|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22554691|PMID:22995991|PMID:23326386|PMID:24033266|PMID:24123366|PMID:24282183|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28832562|PMID:9536098 11842306 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:9005603 Muscle Hypotonia ISO RGD:1601994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotonia 11842306 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:9006534 Nervous System Malformations ISO RGD:1601994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11842306 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:9007402 Gliosis ISO RGD:1553166 D RGD:9068941 20200609 RGD PMID:21970971|REF_RGD_ID:11532765 11842306 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:9281 phenylketonuria ISO RGD:1601994 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Phenylketonuria PMID:25741868 11842306 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:9884 muscular dystrophy ISO RGD:1601994 D RGD:9068941 20200609 RGD DNA:missense mutations, nonsense mutation, snp:exons, intron:multiple (human) PMID:17030669|REF_RGD_ID:1599152 11842341 UBE2E3 ubiquitin conjugating enzyme E2 E3 gene DOID:630 genetic disease ISO RGD:1318925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:0060074 ductal carcinoma in situ severity ISO RGD:1350530 D RGD:9068941 20200609 RGD protein:increased activity:breast PMID:17060931|REF_RGD_ID:2315078 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:0060180 colitis ISO RGD:1350530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17551092 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:0080199 colorectal carcinoma severity ISO RGD:1350530 D RGD:9068941 20211112 RGD PMID:11443610|REF_RGD_ID:150521545 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:0080855 Parkinsonism ISO RGD:620795 D RGD:9068941 20200609 RGD PMID:16529858|REF_RGD_ID:1581410 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1350530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18385429 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:10003 sensorineural hearing loss treatment ISO RGD:8870238 D RGD:9068941 20200609 RGD PMID:24472721|REF_RGD_ID:11554193 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:10283 prostate cancer disease_progression ISO RGD:1350530 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:prostate gland, membrane PMID:19447874|REF_RGD_ID:2315077 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:10534 stomach cancer treatment ISO RGD:1350530 D RGD:9068941 20210611 RGD human cells in mouse model PMID:29408335|REF_RGD_ID:127284846 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:10763 hypertension ISO RGD:620795 D RGD:9068941 20200609 RGD PMID:16157790|REF_RGD_ID:1601372 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:11054 urinary bladder cancer ISO RGD:1350530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11723127|PMID:17093206 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:14566 disease of cellular proliferation ISO RGD:1350530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:25157968|PMID:9988270 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:1520 colon carcinoma ISO RGD:1350530 D RGD:9068941 20211112 RGD protein:increased phosphorylating activity:colon mucosa PMID:2436227|REF_RGD_ID:150521541 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:1824 status epilepticus ISO RGD:1350530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16600505 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:1824 status epilepticus ISO RGD:620795 D RGD:9068941 20200609 RGD PMID:16600505|REF_RGD_ID:1581409 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:1928 Williams-Beuren syndrome ISO RGD:733401 D RGD:9068941 20220825 MouseDO OMIM:194050 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:219 colon cancer ISO RGD:1350530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon cancer, advanced PMID:25157968|PMID:9988270 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:219 colon cancer disease_progression ISO RGD:1350530 D RGD:9068941 20200609 RGD DNA:nonsense mutation PMID:9988270|REF_RGD_ID:1601371 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:219 colon cancer disease_progression ISO RGD:1350530 D RGD:9068941 20211112 RGD PMID:7678609|REF_RGD_ID:150521542 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:2234 focal epilepsy ISO RGD:1350530 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:2316 brain ischemia ISO RGD:620795 D RGD:9068941 20200609 RGD PMID:15854740|REF_RGD_ID:1581411 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:1350530 D RGD:9068941 20211112 RGD PMID:21282564|REF_RGD_ID:150520218 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:3907 lung squamous cell carcinoma severity ISO RGD:1350530 D RGD:9068941 20211112 RGD PMID:12826049|REF_RGD_ID:150521546 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:3910 lung adenocarcinoma severity ISO RGD:1350530 D RGD:9068941 20211112 RGD PMID:12826049|REF_RGD_ID:150521546 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:4971 myelofibrosis ISO RGD:1350530 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis PMID:25741868|PMID:26936507|PMID:32581362 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:5742 pancreatic acinar cell adenocarcinoma disease_progression ISO RGD:620795 D RGD:9068941 20211126 RGD PMID:8569183|REF_RGD_ID:150523792 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:1350530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1350530 D RGD:9068941 20211112 RGD PMID:9581679|REF_RGD_ID:150521543 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:620795 D RGD:9068941 20211112 RGD PMID:9581679|REF_RGD_ID:150521543 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9000081 Lymphatic Metastasis ISO RGD:1350530 D RGD:9068941 20211112 RGD associated with colon adenocarcinoma, PMID:21282564|REF_RGD_ID:150520218 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1350530 D RGD:9068941 20211112 RGD associated with colorectal carcinoma;protein:increased activity:colorectum: PMID:7687314|REF_RGD_ID:150521537 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:733401 D RGD:9068941 20200609 RGD PMID:15486073|REF_RGD_ID:1581401 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9002910 Hearing Loss, Noise-Induced treatment ISO RGD:8870238 D RGD:9068941 20200609 RGD PMID:21840347|REF_RGD_ID:11554196 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9002928 Colonic Neoplasms ISO RGD:1350530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14569062 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9003936 Cardiomegaly ISO RGD:1350530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18194989 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9004009 Reperfusion Injury ISO RGD:620795 D RGD:9068941 20200609 RGD protein:increased phosphorylation:hippocampus CA1 (rat) PMID:20197063|REF_RGD_ID:2325012 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1350530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18844224|PMID:21291860 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9004763 Trauma and Stressor Related Disorders disease_progression ISO RGD:620795 D RGD:9068941 20220428 RGD PMID:22078298|REF_RGD_ID:152023731 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9005009 Thrombocytopenia 6 ISO RGD:1350530 D RGD:7240710 20190315 OMIM 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9005009 Thrombocytopenia 6 ISO RGD:1350530 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 6 PMID:25741868|PMID:26936507|PMID:32581362 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9005968 Neuralgia treatment ISO RGD:620795 D RGD:9068941 20211119 RGD PMID:33746000|REF_RGD_ID:150521727 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:620795 D RGD:9068941 20200609 RGD PMID:12819032|REF_RGD_ID:1580850 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9006618 Liver Metastasis disease_progression ISO RGD:1350530 D RGD:9068941 20211112 RGD associated with colon cancer;protein:increased activity:colon PMID:7678609|REF_RGD_ID:150521542 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9007096 Stroke ISO RGD:620795 D RGD:9068941 20200609 RGD PMID:19741150|REF_RGD_ID:2315083 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1350530 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350530 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:1350530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21357651 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1350530 D RGD:9068941 20200609 RGD protein:altered localization:cytoplasm PMID:19830888|REF_RGD_ID:2315076 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9009121 lung metastasis ameliorates ISO RGD:1350530 D RGD:9068941 20211119 RGD associated with nasopharynx carcinoma; PMID:27078847|REF_RGD_ID:150521726 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9009121 lung metastasis treatment ISO RGD:1350530 D RGD:9068941 20211112 RGD associated with breast cancer; PMID:15753384|REF_RGD_ID:1581400 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9256 colorectal cancer ISO RGD:1350530 D RGD:7240710 20200226 OMIM 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:1350530 D RGD:9068941 20211119 RGD PMID:27078847|REF_RGD_ID:150521726 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350530 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:platelets PMID:15542065|REF_RGD_ID:1601373 11842353 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:620795 D RGD:9068941 20200609 RGD PMID:19230846|REF_RGD_ID:2307340 11842369 DNAJC2 DnaJ heat shock protein family (Hsp40) member C2 gene DOID:0060902 Norman-Roberts syndrome ISO RGD:733241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:10973257|PMID:17124408|PMID:26046367|PMID:28454995|PMID:28492532 11842369 DNAJC2 DnaJ heat shock protein family (Hsp40) member C2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11842369 DNAJC2 DnaJ heat shock protein family (Hsp40) member C2 gene DOID:630 genetic disease ISO RGD:733241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11842405 EME1 essential meiotic structure-specific endonuclease 1 gene DOID:630 genetic disease ISO RGD:1319200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11842419 ZNF41 zinc finger protein 41 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1346984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability 11842419 ZNF41 zinc finger protein 41 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11842419 ZNF41 zinc finger protein 41 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1346984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 11842419 ZNF41 zinc finger protein 41 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1346984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11842419 ZNF41 zinc finger protein 41 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1346984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11842419 ZNF41 zinc finger protein 41 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1346984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 11842419 ZNF41 zinc finger protein 41 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1346984 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 11842419 ZNF41 zinc finger protein 41 gene DOID:12849 autistic disorder ISO RGD:1346984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11842419 ZNF41 zinc finger protein 41 gene DOID:1561 cognitive disorder ISO RGD:1346984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14628291 11842419 ZNF41 zinc finger protein 41 gene DOID:630 genetic disease ISO RGD:1346984 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11842419 ZNF41 zinc finger protein 41 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1346984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14628291 11842419 ZNF41 zinc finger protein 41 gene DOID:9008086 Developmental Disabilities ISO RGD:1346984 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11842465 TOR3A torsin family 3 member A gene DOID:1540 parathyroid carcinoma ISO RGD:1320812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11842465 TOR3A torsin family 3 member A gene DOID:630 genetic disease ISO RGD:1320812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11842465 TOR3A torsin family 3 member A gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1320812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11842465 TOR3A torsin family 3 member A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11842477 CLEC5A C-type lectin domain containing 5A gene DOID:0080690 RASopathy ISO RGD:1343085 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 11842477 CLEC5A C-type lectin domain containing 5A gene DOID:12206 dengue hemorrhagic fever ISO RGD:1343085 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18496526 11842477 CLEC5A C-type lectin domain containing 5A gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1343085 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 11842477 CLEC5A C-type lectin domain containing 5A gene DOID:630 genetic disease ISO RGD:1343085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11842477 CLEC5A C-type lectin domain containing 5A gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1343085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 11842497 PNLIP pancreatic lipase gene DOID:630 genetic disease ISO RGD:734222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11842497 PNLIP pancreatic lipase gene DOID:9006405 Pancreatic Lipase Deficiency ISO RGD:734222 D RGD:7240710 20180130 OMIM 11842497 PNLIP pancreatic lipase gene DOID:9006405 Pancreatic Lipase Deficiency ISO RGD:734222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pancreatic lipase deficiency PMID:24262094|PMID:25741868|PMID:25862608|PMID:28492532 11842497 PNLIP pancreatic lipase gene DOID:9970 obesity susceptibility ISO RGD:3360 D RGD:9068941 20200609 RGD PMID:15883013|REF_RGD_ID:1358859 11842514 HOXD12 homeobox D12 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1320327 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11842514 HOXD12 homeobox D12 gene DOID:11836 clubfoot ISO RGD:1320327 D RGD:9068941 20200609 RGD DNA:SNP:5' utr:rs847154 (human) PMID:16331564|REF_RGD_ID:12743594 11842514 HOXD12 homeobox D12 gene DOID:1909 melanoma ISO RGD:1320327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 11842514 HOXD12 homeobox D12 gene DOID:630 genetic disease ISO RGD:1320327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11842514 HOXD12 homeobox D12 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1320327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19108020|PMID:8620844 11842519 SOCS6 suppressor of cytokine signaling 6 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1312180 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11842519 SOCS6 suppressor of cytokine signaling 6 gene DOID:630 genetic disease ISO RGD:1312180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11842519 SOCS6 suppressor of cytokine signaling 6 gene DOID:6420 pulmonary valve stenosis ISO RGD:1312180 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 11842519 SOCS6 suppressor of cytokine signaling 6 gene DOID:8445 intestinal volvulus ISO RGD:1312180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11842519 SOCS6 suppressor of cytokine signaling 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11842519 SOCS6 suppressor of cytokine signaling 6 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1312180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11842529 WDR53 WD repeat domain 53 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1344468 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 11842529 WDR53 WD repeat domain 53 gene DOID:12849 autistic disorder ISO RGD:1344468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11842529 WDR53 WD repeat domain 53 gene DOID:5419 schizophrenia ISO RGD:1344468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11842529 WDR53 WD repeat domain 53 gene DOID:630 genetic disease ISO RGD:1344468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11842563 ACOX3 acyl-CoA oxidase 3, pristanoyl gene DOID:630 genetic disease ISO RGD:736892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11842563 ACOX3 acyl-CoA oxidase 3, pristanoyl gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11842588 RB1 RB transcriptional corepressor 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 11842588 RB1 RB transcriptional corepressor 1 gene DOID:0050685 small cell carcinoma ISO RGD:731712 D RGD:7240710 20180130 OMIM 11842588 RB1 RB transcriptional corepressor 1 gene DOID:0050804 glioblastoma proneural subtype ISO RGD:731712 D RGD:9068941 20200609 RGD RNA:decreased expression:brain: PMID:22157621|REF_RGD_ID:13782062 11842588 RB1 RB transcriptional corepressor 1 gene DOID:0050902 medulloblastoma ISO RGD:731712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:25741868|PMID:28492532 11842588 RB1 RB transcriptional corepressor 1 gene DOID:0060074 ductal carcinoma in situ ISO RGD:731712 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:breast PMID:15312366|REF_RGD_ID:2299890 11842588 RB1 RB transcriptional corepressor 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:731712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11842588 RB1 RB transcriptional corepressor 1 gene DOID:0070275 hereditary nonpolyposis colorectal cancer type 4 ISO RGD:731712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 4 PMID:12541220|PMID:14722923|PMID:15884040|PMID:16199547|PMID:16343894|PMID:17096365|PMID:28492532|PMID:7795591 11842588 RB1 RB transcriptional corepressor 1 gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:11219 D RGD:9068941 20200609 RGD PMID:24177421|REF_RGD_ID:8547979 11842588 RB1 RB transcriptional corepressor 1 gene DOID:0080124 mitochondrial DNA depletion syndrome 5 ISO RGD:731712 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:15877282|PMID:17301081|PMID:26475597|PMID:28492532 11842588 RB1 RB transcriptional corepressor 1 gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:731712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:25741868 11842588 RB1 RB transcriptional corepressor 1 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:731712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified PMID:25741868|PMID:28492532 11842588 RB1 RB transcriptional corepressor 1 gene DOID:0080645 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 ISO RGD:731712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 PMID:25741868|PMID:28492532 11842588 RB1 RB transcriptional corepressor 1 gene DOID:0110705 hypotrichosis 8 ISO RGD:731712 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hypotrichosis 8 PMID:18297070|PMID:18297072|PMID:18461368|PMID:21070332|PMID:21426374|PMID:25119526|PMID:25741868 11842588 RB1 RB transcriptional corepressor 1 gene DOID:10283 prostate cancer ISO RGD:731712 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity PMID:18383208|REF_RGD_ID:2299887 11842588 RB1 RB transcriptional corepressor 1 gene DOID:1059 intellectual disability ISO RGD:731712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11842588 RB1 RB transcriptional corepressor 1 gene DOID:11054 urinary bladder cancer ISO RGD:731712 D RGD:7240710 20180130 OMIM 11842588 RB1 RB transcriptional corepressor 1 gene DOID:11054 urinary bladder cancer ISO RGD:731712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder | ClinVar Annotator: match by term: Urinary bladder cancer PMID:10486322|PMID:10966849|PMID:12541220|PMID:1352883|PMID:15643604|PMID:15884040|PMID:16199547|PMID:16269091|PMID:16449662|PMID:17096365|PMID:18677112|PMID:18682685|PMID:20041224|PMID:2181449|PMID:22703879|PMID:23532519|PMID:24082139|PMID:24225018|PMID:24448499|PMID:24688104|PMID:25741868|PMID:26925970|PMID:28492532|PMID:28575107|PMID:28724667|PMID:28873162|PMID:7881418|PMID:9632788|PMID:9671401 11842588 RB1 RB transcriptional corepressor 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:731712 D RGD:9068941 20200609 RGD PMID:17026804|REF_RGD_ID:2299888 11842588 RB1 RB transcriptional corepressor 1 gene DOID:14566 disease of cellular proliferation ISO RGD:731712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:12173465|PMID:16463005|PMID:17096365|PMID:21763628|PMID:22963398|PMID:24688104|PMID:25157968|PMID:25602518|PMID:25741868|PMID:2594029|PMID:28492532|PMID:30031154|PMID:33456302|PMID:7704558|PMID:8346255|PMID:8605116|PMID:8651278|PMID:9400934 11842588 RB1 RB transcriptional corepressor 1 gene DOID:1749 squamous cell carcinoma ISO RGD:731712 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 11842588 RB1 RB transcriptional corepressor 1 gene DOID:1793 pancreatic cancer ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21699781 11842588 RB1 RB transcriptional corepressor 1 gene DOID:2316 brain ischemia ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17901229 11842588 RB1 RB transcriptional corepressor 1 gene DOID:2394 ovarian cancer ISO RGD:731712 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:12541220|PMID:16269091|PMID:22703879|PMID:24082139|PMID:24448499|PMID:24688104|PMID:24728327|PMID:24791139|PMID:25741868|PMID:28492532|PMID:32091409|PMID:34190019|PMID:34680218 11842588 RB1 RB transcriptional corepressor 1 gene DOID:2513 basal cell carcinoma ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 11842588 RB1 RB transcriptional corepressor 1 gene DOID:3021 acute kidney failure ISO RGD:3540 D RGD:9068941 20200609 RGD associated with Sepsis;protein:increased phosphorylation:kidney PMID:19428114|REF_RGD_ID:8547990 11842588 RB1 RB transcriptional corepressor 1 gene DOID:305 carcinoma ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14522882 11842588 RB1 RB transcriptional corepressor 1 gene DOID:3068 glioblastoma severity ISO RGD:731712 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:11204276|REF_RGD_ID:13782067 11842588 RB1 RB transcriptional corepressor 1 gene DOID:3181 oligodendroglioma disease_progression ISO RGD:731712 D RGD:9068941 20200609 RGD PMID:15970925|REF_RGD_ID:13782064 11842588 RB1 RB transcriptional corepressor 1 gene DOID:3308 embryonal carcinoma ISO RGD:731712 D RGD:9068941 20200609 RGD protein:decreased expression:testis PMID:12754735|REF_RGD_ID:2299891 11842588 RB1 RB transcriptional corepressor 1 gene DOID:3347 osteosarcoma ISO RGD:731712 D RGD:7240710 20180130 OMIM 11842588 RB1 RB transcriptional corepressor 1 gene DOID:3347 osteosarcoma ISO RGD:731712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteosarcoma, somatic PMID:10486322|PMID:10966849|PMID:12541220|PMID:1352883|PMID:15643604|PMID:16269091|PMID:16449662|PMID:17096365|PMID:18677112|PMID:18682685|PMID:20041224|PMID:23532519|PMID:24225018|PMID:24688104|PMID:25741868|PMID:26925970|PMID:28492532|PMID:28575107|PMID:28724667|PMID:28873162|PMID:7881418|PMID:9632788|PMID:9671401 11842588 RB1 RB transcriptional corepressor 1 gene DOID:3376 bone osteosarcoma ISO RGD:731712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bone osteosarcoma PMID:10486322|PMID:10966849|PMID:12541220|PMID:12955724|PMID:1352883|PMID:14722923|PMID:15605413|PMID:15643604|PMID:15776430|PMID:15884040|PMID:16269091|PMID:16449662|PMID:16463005|PMID:17096365|PMID:17960112|PMID:18677112|PMID:18682685|PMID:20041224|PMID:20447117|PMID:22205104|PMID:22328814|PMID:22963398|PMID:23532519|PMID:24225018|PMID:24688104|PMID:24791139|PMID:25741868|PMID:25754945|PMID:25758528|PMID:2594029|PMID:2601691|PMID:26396485|PMID:26580448|PMID:26787237|PMID:26925970|PMID:27582626|PMID:27983729|PMID:28492532|PMID:28575107|PMID:28724667|PMID:28873162|PMID:29261756|PMID:30031154|PMID:32218800|PMID:33493472|PMID:34294096|PMID:7881418|PMID:9311732|PMID:9632788|PMID:9671401|PMID:9973307 11842588 RB1 RB transcriptional corepressor 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 11842588 RB1 RB transcriptional corepressor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16862215 11842588 RB1 RB transcriptional corepressor 1 gene DOID:3910 lung adenocarcinoma ISO RGD:731712 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 11842588 RB1 RB transcriptional corepressor 1 gene DOID:3948 adrenocortical carcinoma ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747642 11842588 RB1 RB transcriptional corepressor 1 gene DOID:4440 seminoma ISO RGD:731712 D RGD:9068941 20200609 RGD protein:decreased expression:testis PMID:12754735|REF_RGD_ID:2299891 11842588 RB1 RB transcriptional corepressor 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:731712 D RGD:9068941 20200609 RGD PMID:11549509|REF_RGD_ID:2299893 11842588 RB1 RB transcriptional corepressor 1 gene DOID:4647 trilateral retinoblastoma ISO RGD:731712 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Trilateral retinoblastoma PMID:16463005|PMID:17096365|PMID:21763628|PMID:22963398|PMID:24688104|PMID:25157968|PMID:25602518|PMID:25741868|PMID:28492532|PMID:30031154|PMID:33456302|PMID:7704558|PMID:8346255|PMID:8605116|PMID:9400934 11842588 RB1 RB transcriptional corepressor 1 gene DOID:4648 familial retinoblastoma ISO RGD:731712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary retinoblastoma PMID:10486322|PMID:10617920|PMID:10671068|PMID:11668642|PMID:12541220|PMID:15884040|PMID:16269091|PMID:17576681|PMID:18449911|PMID:18677112|PMID:22084214|PMID:25741868|PMID:25754945|PMID:28492532|PMID:7881418|PMID:8346255|PMID:8605116|PMID:8651278|PMID:9536098|PMID:9671401 11842588 RB1 RB transcriptional corepressor 1 gene DOID:5409 lung small cell carcinoma ISO RGD:731712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma PMID:10486322|PMID:10966849|PMID:12541220|PMID:1352883|PMID:15643604|PMID:16269091|PMID:16449662|PMID:17096365|PMID:18677112|PMID:18682685|PMID:20041224|PMID:23532519|PMID:24225018|PMID:24688104|PMID:25157968|PMID:25741868|PMID:2594029|PMID:26925970|PMID:28492532|PMID:28575107|PMID:28724667|PMID:28873162|PMID:7881418|PMID:9632788|PMID:9671401 11842588 RB1 RB transcriptional corepressor 1 gene DOID:5411 lung oat cell carcinoma ISO RGD:731712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung oat cell carcinoma PMID:10486322|PMID:10966849|PMID:12541220|PMID:1352883|PMID:15643604|PMID:16269091|PMID:16449662|PMID:17096365|PMID:18677112|PMID:18682685|PMID:20041224|PMID:23532519|PMID:24225018|PMID:24688104|PMID:25741868|PMID:26925970|PMID:28492532|PMID:28575107|PMID:28724667|PMID:28873162|PMID:7881418|PMID:9632788|PMID:9671401 11842588 RB1 RB transcriptional corepressor 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:731712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:31775759 11842588 RB1 RB transcriptional corepressor 1 gene DOID:630 genetic disease ISO RGD:731712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11842588 RB1 RB transcriptional corepressor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:731712 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 11842588 RB1 RB transcriptional corepressor 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:3540 D RGD:9068941 20220714 RGD PMID:33841550|REF_RGD_ID:152998960 11842588 RB1 RB transcriptional corepressor 1 gene DOID:768 retinoblastoma ISO RGD:731712 D RGD:7240710 20180130 OMIM 11842588 RB1 RB transcriptional corepressor 1 gene DOID:768 retinoblastoma ISO RGD:731712 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma PMID:10023315|PMID:10486322|PMID:10617920|PMID:10671068|PMID:10673998|PMID:10882758|PMID:10966849|PMID:10991691|PMID:11317357|PMID:11317369|PMID:11333669|PMID:11480772|PMID:11668642|PMID:12016586|PMID:12173465|PMID:12402348|PMID:12502741|PMID:12541220|PMID:12955724|PMID:1298292|PMID:1352883|PMID:14722923|PMID:15166261|PMID:15605413|PMID:15643604|PMID:15776430|PMID:15877282|PMID:15884040|PMID:16127685|PMID:16199547|PMID:16269091|PMID:16343894|PMID:16449662|PMID:16463005|PMID:16595082|PMID:1662795|PMID:16988938|PMID:17096365|PMID:17299438|PMID:17301081|PMID:17576681|PMID:17960112|PMID:17996702|PMID:18000883|PMID:18181215|PMID:18449911|PMID:18503160|PMID:18677112|PMID:18682685|PMID:1881452|PMID:19280657|PMID:19339519|PMID:19491728|PMID:20041224|PMID:20059380|PMID:20090211|PMID:20447117|PMID:20594292|PMID:20596833|PMID:21505449|PMID:21520333|PMID:21538077|PMID:21615945|PMID:21654082|PMID:21763628|PMID:2181449|PMID:22084214|PMID:22180099|PMID:22205104|PMID:22219649|PMID:22328814|PMID:22703879|PMID:22909775|PMID:22963398|PMID:23301675|PMID:23532519|PMID:23981928|PMID:24033266|PMID:24078560|PMID:24082139|PMID:24225018|PMID:24336570|PMID:24347427|PMID:24448499|PMID:24509483|PMID:24688104|PMID:24728327|PMID:24791139|PMID:24888624|PMID:25157968|PMID:25424699|PMID:25525159|PMID:25602518|PMID:25640679|PMID:25712084|PMID:25741868|PMID:25754945|PMID:25758528|PMID:25928201|PMID:2594029|PMID:25999316|PMID:2601691|PMID:26084579|PMID:26332594|PMID:26396485|PMID:26475597|PMID:26530098|PMID:26539030|PMID:26580448|PMID:2673542|PMID:26764160|PMID:26787237|PMID:26925970|PMID:26934580|PMID:27021801|PMID:27153395|PMID:27155049|PMID:27283993|PMID:2748600|PMID:27582626|PMID:27854218|PMID:27879208|PMID:27983729|PMID:28193182|PMID:28301456|PMID:28401291|PMID:28492532|PMID:28575107|PMID:28580595|PMID:28606269|PMID:28724667|PMID:28803391|PMID:28873162|PMID:28875981|PMID:29261756|PMID:29316426|PMID:29568217|PMID:29607586|PMID:29662154|PMID:30031154|PMID:30181556|PMID:30192042|PMID:31106028|PMID:31568710|PMID:31645765|PMID:33225895|PMID:33456302|PMID:33493472|PMID:7704558|PMID:7795591|PMID:7881418|PMID:7981694|PMID:8099255|PMID:8346255|PMID:8364580|PMID:8605116|PMID:8651278|PMID:8776589|PMID:9311732|PMID:9341870|PMID:9400934|PMID:9536098|PMID:9632788|PMID:9639842|PMID:9671401|PMID:9973307 11842588 RB1 RB transcriptional corepressor 1 gene DOID:768 retinoblastoma ISO RGD:731712 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma PMID:10023315|PMID:10486322|PMID:10617920|PMID:10671068|PMID:10673998|PMID:10882758|PMID:10966849|PMID:10991691|PMID:11189328|PMID:11317357|PMID:11317369|PMID:11333669|PMID:11480772|PMID:11668642|PMID:12016586|PMID:12173465|PMID:12402348|PMID:12502741|PMID:12541220|PMID:12955724|PMID:1298292|PMID:1352398|PMID:1352883|PMID:14516425|PMID:14722923|PMID:14769601|PMID:15166261|PMID:1534305|PMID:15591264|PMID:15605413|PMID:15643604|PMID:1577465|PMID:15776430|PMID:15884040|PMID:16127685|PMID:16199547|PMID:16269091|PMID:16343894|PMID:16449662|PMID:16463005|PMID:16595082|PMID:1662795|PMID:16988938|PMID:17096365|PMID:17299438|PMID:17576681|PMID:17960112|PMID:17996702|PMID:18000883|PMID:18181215|PMID:18449911|PMID:18503160|PMID:18677112|PMID:18682685|PMID:1881452|PMID:19280657|PMID:19339519|PMID:19390654|PMID:19491728|PMID:19763152|PMID:20041224|PMID:20059380|PMID:20090211|PMID:20307669|PMID:20447117|PMID:20594292|PMID:20596833|PMID:20808897|PMID:21402997|PMID:21505449|PMID:21520333|PMID:21538077|PMID:21615945|PMID:21654082|PMID:21763628|PMID:2181449|PMID:22084214|PMID:22180099|PMID:22205104|PMID:22219649|PMID:22328814|PMID:22406018|PMID:22703879|PMID:22744425|PMID:22909775|PMID:22963398|PMID:23301675|PMID:23474753|PMID:23532519|PMID:23595191|PMID:23820649|PMID:23981928|PMID:24033266|PMID:24078560|PMID:24082139|PMID:24225018|PMID:24336570|PMID:24347427|PMID:24448499|PMID:24509483|PMID:24688104|PMID:24728327|PMID:24791139|PMID:24810223|PMID:24888624|PMID:25157968|PMID:25424699|PMID:25525159|PMID:25602518|PMID:25640679|PMID:25712084|PMID:25741868|PMID:25754945|PMID:25758528|PMID:25928201|PMID:2594029|PMID:25999316|PMID:2601691|PMID:26084579|PMID:26332594|PMID:26396485|PMID:26530098|PMID:26539030|PMID:26580448|PMID:2673542|PMID:26747767|PMID:26764160|PMID:26787237|PMID:26925970|PMID:26934580|PMID:27021801|PMID:27153395|PMID:27155049|PMID:27283993|PMID:2748600|PMID:27582626|PMID:27854218|PMID:27879208|PMID:27906792|PMID:27983729|PMID:28193182|PMID:28301456|PMID:28401291|PMID:28492532|PMID:28575107|PMID:28580595|PMID:28606269|PMID:28724667|PMID:28803391|PMID:28873162|PMID:28875981|PMID:29192238|PMID:29261756|PMID:29316426|PMID:29453956|PMID:29568217|PMID:29607586|PMID:29625052|PMID:29641532|PMID:29662154|PMID:29684080|PMID:30031154|PMID:30181556|PMID:30636860|PMID:30773851|PMID:30842500|PMID:31106028|PMID:31568710|PMID:31645765|PMID:31772335|PMID:32091409|PMID:32218800|PMID:32974172|PMID:33225895|PMID:33456302|PMID:33493472|PMID:33606809|PMID:34190019|PMID:34294096|PMID:34308366|PMID:34680218|PMID:7704558|PMID:7795591|PMID:7881418|PMID:7927327|PMID:7981694|PMID:8099255|PMID:8118465|PMID:8346255|PMID:8364580|PMID:8605116|PMID:8651278|PMID:8756645|PMID:8776589|PMID:9311732|PMID:9341870|PMID:9400934|PMID:9495340|PMID:9536098|PMID:9632788|PMID:9639842|PMID:9671401|PMID:9973307 11842588 RB1 RB transcriptional corepressor 1 gene DOID:8541 Sezary's disease ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 11842588 RB1 RB transcriptional corepressor 1 gene DOID:8719 in situ carcinoma ISO RGD:731712 D RGD:9068941 20200609 RGD protein:decreased expression:testis PMID:12754735|REF_RGD_ID:2299891 11842588 RB1 RB transcriptional corepressor 1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:731712 D RGD:9068941 20200609 RGD associated with Adenocarcinoma PMID:18234283|REF_RGD_ID:2299896 11842588 RB1 RB transcriptional corepressor 1 gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747643 11842588 RB1 RB transcriptional corepressor 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:11219 D RGD:9068941 20200609 RGD PMID:21364977|REF_RGD_ID:8547983 11842588 RB1 RB transcriptional corepressor 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14522882 11842588 RB1 RB transcriptional corepressor 1 gene DOID:9000647 Acute Erythroleukemia ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926971 11842588 RB1 RB transcriptional corepressor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27137931 11842588 RB1 RB transcriptional corepressor 1 gene DOID:9001083 Autosomal Recessive Woolly Hair ISO RGD:731712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Woolly hair, autosomal recessive 1, with or without hypotrichosis PMID:18297072|PMID:18461368|PMID:21426374|PMID:25741868 11842588 RB1 RB transcriptional corepressor 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17854601 11842588 RB1 RB transcriptional corepressor 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27137931 11842588 RB1 RB transcriptional corepressor 1 gene DOID:9002234 Pituitary Neoplasms ISO RGD:3540 D RGD:9068941 20200609 RGD PMID:10022766|REF_RGD_ID:8547989 11842588 RB1 RB transcriptional corepressor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11842588 RB1 RB transcriptional corepressor 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:731712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian neoplasm PMID:25741868|PMID:28492532 11842588 RB1 RB transcriptional corepressor 1 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:731712 D RGD:9068941 20200609 RGD PMID:17242700|REF_RGD_ID:2296051 11842588 RB1 RB transcriptional corepressor 1 gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:11219 D RGD:9068941 20200609 RGD PMID:16510568|REF_RGD_ID:2299895 11842588 RB1 RB transcriptional corepressor 1 gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:731712 D RGD:9068941 20200609 RGD DNA:SNPs PMID:17047088|REF_RGD_ID:2299894 11842588 RB1 RB transcriptional corepressor 1 gene DOID:9003936 Cardiomegaly ISO RGD:11219 D RGD:9068941 20200609 RGD PMID:18420946|REF_RGD_ID:9686423 11842588 RB1 RB transcriptional corepressor 1 gene DOID:9004240 Phyllodes Tumor severity ISO RGD:731712 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:15981808|REF_RGD_ID:2299889 11842588 RB1 RB transcriptional corepressor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14522882 11842588 RB1 RB transcriptional corepressor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731712 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10023315|PMID:10486322|PMID:10617920|PMID:10671068|PMID:10673998|PMID:10966849|PMID:10991691|PMID:11317357|PMID:11317369|PMID:11333669|PMID:11668642|PMID:12016586|PMID:12173465|PMID:12402348|PMID:12502741|PMID:12541220|PMID:12955724|PMID:1298292|PMID:1352883|PMID:14722923|PMID:14769601|PMID:15166261|PMID:15605413|PMID:15643604|PMID:15776430|PMID:15884040|PMID:16199547|PMID:16269091|PMID:16343894|PMID:16449662|PMID:16463005|PMID:16972022|PMID:17096365|PMID:17576681|PMID:17960112|PMID:17996702|PMID:18000883|PMID:18181215|PMID:18449911|PMID:18503160|PMID:18677112|PMID:18682685|PMID:1881452|PMID:19280657|PMID:19491728|PMID:20041224|PMID:20059380|PMID:20090211|PMID:20447117|PMID:20594292|PMID:20596833|PMID:21520333|PMID:21763628|PMID:22084214|PMID:22180099|PMID:22205104|PMID:22219649|PMID:22328814|PMID:22703879|PMID:22963398|PMID:23532519|PMID:23826078|PMID:23981928|PMID:24033266|PMID:24078560|PMID:24082139|PMID:24225018|PMID:24347427|PMID:24448499|PMID:24509483|PMID:24688104|PMID:24728327|PMID:24791139|PMID:25157968|PMID:25424699|PMID:25525159|PMID:25602518|PMID:25712084|PMID:25741868|PMID:25754945|PMID:25758528|PMID:25928201|PMID:2594029|PMID:25999316|PMID:2601691|PMID:26084579|PMID:26332594|PMID:26396485|PMID:26530098|PMID:26580448|PMID:26764160|PMID:26787237|PMID:26925970|PMID:26934580|PMID:27021801|PMID:27153395|PMID:27283993|PMID:2748600|PMID:27582626|PMID:27854218|PMID:27983729|PMID:28193182|PMID:28301456|PMID:28401291|PMID:28492532|PMID:28575107|PMID:28724667|PMID:28803391|PMID:28873162|PMID:28875981|PMID:29261756|PMID:29316426|PMID:29568217|PMID:29607586|PMID:30031154|PMID:30181556|PMID:31645765|PMID:32218800|PMID:33456302|PMID:33493472|PMID:7704558|PMID:7795591|PMID:7881418|PMID:7981694|PMID:8346255|PMID:8364580|PMID:8605116|PMID:8651278|PMID:8776589|PMID:9311732|PMID:9400934|PMID:9536098|PMID:9632788|PMID:9671401|PMID:9973307 11842588 RB1 RB transcriptional corepressor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731712 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10023315|PMID:10486322|PMID:10617920|PMID:10671068|PMID:10673998|PMID:10966849|PMID:10991691|PMID:11189328|PMID:11317357|PMID:11317369|PMID:11333669|PMID:11668642|PMID:12016586|PMID:12173465|PMID:12402348|PMID:12502741|PMID:12541220|PMID:12955724|PMID:1298292|PMID:1352883|PMID:14722923|PMID:14769601|PMID:15166261|PMID:15605413|PMID:15643604|PMID:15776430|PMID:15884040|PMID:16199547|PMID:16269091|PMID:16343894|PMID:16449662|PMID:16463005|PMID:16682285|PMID:16972022|PMID:17096365|PMID:17299438|PMID:17576681|PMID:17960112|PMID:17996702|PMID:18000883|PMID:18181215|PMID:18449911|PMID:18503160|PMID:18677112|PMID:18682685|PMID:1881452|PMID:19280657|PMID:19390654|PMID:19491728|PMID:20041224|PMID:20059380|PMID:20090211|PMID:20447117|PMID:20594292|PMID:20596833|PMID:21402997|PMID:21520333|PMID:21763628|PMID:22084214|PMID:22180099|PMID:22205104|PMID:22219649|PMID:22328814|PMID:22703879|PMID:22729126|PMID:22744425|PMID:22963398|PMID:23301675|PMID:23474753|PMID:23532519|PMID:23820649|PMID:23826078|PMID:23981928|PMID:24033266|PMID:24078560|PMID:24082139|PMID:24225018|PMID:24347427|PMID:24448499|PMID:24509483|PMID:24688104|PMID:24728327|PMID:24791139|PMID:25157968|PMID:25424699|PMID:25525159|PMID:25602518|PMID:25712084|PMID:25741868|PMID:25754945|PMID:25758528|PMID:25928201|PMID:2594029|PMID:25999316|PMID:2601691|PMID:26084579|PMID:26332594|PMID:26396485|PMID:26530098|PMID:26580448|PMID:26747767|PMID:26764160|PMID:26787237|PMID:26925970|PMID:26934580|PMID:27021801|PMID:27153395|PMID:27283993|PMID:2748600|PMID:27582626|PMID:27712844|PMID:27854218|PMID:27906792|PMID:27983729|PMID:28137276|PMID:28193182|PMID:28301456|PMID:28401291|PMID:28492532|PMID:28575107|PMID:28580595|PMID:28724667|PMID:28803391|PMID:28873162|PMID:28875981|PMID:29192238|PMID:29261756|PMID:29316426|PMID:29453956|PMID:29568217|PMID:29607586|PMID:29625052|PMID:29641532|PMID:29662154|PMID:29684080|PMID:30031154|PMID:30181556|PMID:30636860|PMID:30842500|PMID:31106028|PMID:31568710|PMID:31645765|PMID:31772335|PMID:32091409|PMID:32218800|PMID:32974172|PMID:33456302|PMID:33493472|PMID:34190019|PMID:34294096|PMID:34680218|PMID:7704558|PMID:7795591|PMID:7881418|PMID:7981694|PMID:8346255|PMID:8364580|PMID:8605116|PMID:8651278|PMID:8776589|PMID:9311732|PMID:9341870|PMID:9400934|PMID:9536098|PMID:9632788|PMID:9671401|PMID:9973307 11842588 RB1 RB transcriptional corepressor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10023315|PMID:10486322|PMID:10617920|PMID:10671068|PMID:10673998|PMID:10966849|PMID:10991691|PMID:11189328|PMID:11317357|PMID:11317369|PMID:11333669|PMID:11668642|PMID:12016586|PMID:12173465|PMID:12402348|PMID:12502741|PMID:12541220|PMID:12955724|PMID:1298292|PMID:1352883|PMID:14722923|PMID:14769601|PMID:15166261|PMID:15605413|PMID:15643604|PMID:15776430|PMID:15884040|PMID:16199547|PMID:16269091|PMID:16343894|PMID:16449662|PMID:16463005|PMID:16682285|PMID:16972022|PMID:17096365|PMID:17299438|PMID:17576681|PMID:17960112|PMID:17996702|PMID:18000883|PMID:18181215|PMID:18449911|PMID:18503160|PMID:18677112|PMID:18682685|PMID:1881452|PMID:19280657|PMID:19390654|PMID:19491728|PMID:20041224|PMID:20059380|PMID:20090211|PMID:20447117|PMID:20594292|PMID:20596833|PMID:21402997|PMID:21520333|PMID:21763628|PMID:22084214|PMID:22180099|PMID:22205104|PMID:22219649|PMID:22328814|PMID:22703879|PMID:22729126|PMID:22744425|PMID:22963398|PMID:23301675|PMID:23474753|PMID:23532519|PMID:23820649|PMID:23826078|PMID:23981928|PMID:24033266|PMID:24078560|PMID:24082139|PMID:24225018|PMID:24347427|PMID:24448499|PMID:24509483|PMID:24688104|PMID:24728327|PMID:24791139|PMID:25157968|PMID:25424699|PMID:25525159|PMID:25602518|PMID:25712084|PMID:25741868|PMID:25754945|PMID:25758528|PMID:25928201|PMID:2594029|PMID:25999316|PMID:2601691|PMID:26084579|PMID:26332594|PMID:26396485|PMID:26530098|PMID:26580448|PMID:26747767|PMID:26764160|PMID:26787237|PMID:26925970|PMID:26934580|PMID:27021801|PMID:27153395|PMID:27283993|PMID:2748600|PMID:27582626|PMID:27712844|PMID:27854218|PMID:27906792|PMID:27983729|PMID:28137276|PMID:28193182|PMID:28301456|PMID:28401291|PMID:28492532|PMID:28575107|PMID:28580595|PMID:28724667|PMID:28803391|PMID:28873162|PMID:28875981|PMID:29192238|PMID:29261756|PMID:29316426|PMID:29453956|PMID:29568217|PMID:29607586|PMID:29625052|PMID:29641532|PMID:29684080|PMID:30031154|PMID:30181556|PMID:30636860|PMID:30773851|PMID:30842500|PMID:31106028|PMID:31568710|PMID:31645765|PMID:31772335|PMID:32091409|PMID:32218800|PMID:32974172|PMID:33456302|PMID:33493472|PMID:34190019|PMID:34294096|PMID:34680218|PMID:7704558|PMID:7795591|PMID:7881418|PMID:7981694|PMID:8346255|PMID:8364580|PMID:8605116|PMID:8651278|PMID:8776589|PMID:9311732|PMID:9341870|PMID:9400934|PMID:9536098|PMID:9632788|PMID:9671401|PMID:9973307 11842588 RB1 RB transcriptional corepressor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731712 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10023315|PMID:10486322|PMID:10617920|PMID:10671068|PMID:10673998|PMID:10966849|PMID:10991691|PMID:11189328|PMID:11317357|PMID:11317369|PMID:11333669|PMID:11668642|PMID:12016586|PMID:12173465|PMID:12402348|PMID:12502741|PMID:12541220|PMID:12955724|PMID:1298292|PMID:1352883|PMID:14722923|PMID:14769601|PMID:15166261|PMID:15605413|PMID:15643604|PMID:15776430|PMID:15884040|PMID:16199547|PMID:16269091|PMID:16343894|PMID:16449662|PMID:16463005|PMID:16595082|PMID:16682285|PMID:16972022|PMID:17096365|PMID:17299438|PMID:17576681|PMID:17960112|PMID:17996702|PMID:18000883|PMID:18181215|PMID:18449911|PMID:18503160|PMID:18677112|PMID:18682685|PMID:1881452|PMID:19280657|PMID:19390654|PMID:19491728|PMID:20041224|PMID:20059380|PMID:20090211|PMID:20447117|PMID:20594292|PMID:20596833|PMID:20808897|PMID:21402997|PMID:21520333|PMID:21763628|PMID:22084214|PMID:22180099|PMID:22205104|PMID:22219649|PMID:22328814|PMID:22703879|PMID:22729126|PMID:22744425|PMID:22963398|PMID:23301675|PMID:23474753|PMID:23532519|PMID:23595191|PMID:23820649|PMID:23826078|PMID:23981928|PMID:24033266|PMID:24078560|PMID:24082139|PMID:24225018|PMID:24347427|PMID:24448499|PMID:24509483|PMID:24688104|PMID:24728327|PMID:24791139|PMID:24810223|PMID:25157968|PMID:25424699|PMID:25525159|PMID:25602518|PMID:25712084|PMID:25741868|PMID:25754945|PMID:25758528|PMID:25928201|PMID:2594029|PMID:25999316|PMID:2601691|PMID:26084579|PMID:26332594|PMID:26396485|PMID:26530098|PMID:26539030|PMID:26580448|PMID:26747767|PMID:26764160|PMID:26787237|PMID:26925970|PMID:26934580|PMID:27021801|PMID:27153395|PMID:27155049|PMID:27283993|PMID:2748600|PMID:27582626|PMID:27712844|PMID:27906792|PMID:27983729|PMID:28137276|PMID:28193182|PMID:28301456|PMID:28401291|PMID:28492532|PMID:28575107|PMID:28580595|PMID:28724667|PMID:28803391|PMID:28873162|PMID:28875981|PMID:29192238|PMID:29261756|PMID:29316426|PMID:29453956|PMID:29568217|PMID:29607586|PMID:29625052|PMID:29641532|PMID:29662154|PMID:29684080|PMID:30031154|PMID:30181556|PMID:30636860|PMID:30773851|PMID:30842500|PMID:31106028|PMID:31568710|PMID:31645765|PMID:31772335|PMID:32091409|PMID:32218800|PMID:32974172|PMID:33456302|PMID:33493472|PMID:34190019|PMID:34294096|PMID:34680218|PMID:7704558|PMID:7795591|PMID:7881418|PMID:7981694|PMID:8346255|PMID:8364580|PMID:8605116|PMID:8651278|PMID:8776589|PMID:9311732|PMID:9341870|PMID:9400934|PMID:9536098|PMID:9632788|PMID:9671401|PMID:9973307 11842588 RB1 RB transcriptional corepressor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731712 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023315|PMID:10486322|PMID:10617920|PMID:10671068|PMID:10673998|PMID:10966849|PMID:10991691|PMID:11189328|PMID:11317357|PMID:11317369|PMID:11333669|PMID:11668642|PMID:12016586|PMID:12173465|PMID:12402348|PMID:12502741|PMID:12541220|PMID:12955724|PMID:1298292|PMID:1352883|PMID:14722923|PMID:14769601|PMID:15166261|PMID:15605413|PMID:15643604|PMID:15776430|PMID:15884040|PMID:16199547|PMID:16269091|PMID:16343894|PMID:16449662|PMID:16463005|PMID:16595082|PMID:16682285|PMID:16972022|PMID:17096365|PMID:17299438|PMID:17576681|PMID:17960112|PMID:17996702|PMID:18000883|PMID:18181215|PMID:18449911|PMID:18503160|PMID:18677112|PMID:18682685|PMID:1881452|PMID:19280657|PMID:19390654|PMID:19491728|PMID:20041224|PMID:20059380|PMID:20090211|PMID:20447117|PMID:20594292|PMID:20596833|PMID:20808897|PMID:21402997|PMID:21520333|PMID:21763628|PMID:22084214|PMID:22180099|PMID:22205104|PMID:22219649|PMID:22328814|PMID:22703879|PMID:22729126|PMID:22744425|PMID:22963398|PMID:23301675|PMID:23474753|PMID:23532519|PMID:23595191|PMID:23820649|PMID:23826078|PMID:23981928|PMID:24033266|PMID:24078560|PMID:24082139|PMID:24225018|PMID:24347427|PMID:24448499|PMID:24509483|PMID:24688104|PMID:24728327|PMID:24791139|PMID:24810223|PMID:25157968|PMID:25424699|PMID:25525159|PMID:25602518|PMID:25712084|PMID:25741868|PMID:25754945|PMID:25758528|PMID:25928201|PMID:2594029|PMID:25999316|PMID:2601691|PMID:26084579|PMID:26332594|PMID:26396485|PMID:26530098|PMID:26539030|PMID:26580448|PMID:26747767|PMID:26764160|PMID:26787237|PMID:26925970|PMID:26934580|PMID:27021801|PMID:27153395|PMID:27155049|PMID:27283993|PMID:2748600|PMID:27582626|PMID:27712844|PMID:27854218|PMID:27906792|PMID:27983729|PMID:28137276|PMID:28193182|PMID:28301456|PMID:28401291|PMID:28492532|PMID:28575107|PMID:28580595|PMID:28724667|PMID:28803391|PMID:28873162|PMID:28875981|PMID:29192238|PMID:29261756|PMID:29316426|PMID:29453956|PMID:29568217|PMID:29607586|PMID:29625052|PMID:29641532|PMID:29662154|PMID:29684080|PMID:30031154|PMID:30181556|PMID:30636860|PMID:30773851|PMID:30842500|PMID:31106028|PMID:31568710|PMID:31645765|PMID:31772335|PMID:32091409|PMID:32218800|PMID:32974172|PMID:33456302|PMID:33493472|PMID:33606809|PMID:34190019|PMID:34294096|PMID:34680218|PMID:7704558|PMID:7795591|PMID:7881418|PMID:7981694|PMID:8346255|PMID:8364580|PMID:8605116|PMID:8651278|PMID:8776589|PMID:9311732|PMID:9341870|PMID:9400934|PMID:9536098|PMID:9632788|PMID:9671401|PMID:9973307 11842588 RB1 RB transcriptional corepressor 1 gene DOID:9007692 Insulin Resistance ISO RGD:731712 D RGD:9068941 20200609 RGD mRNA:decreased expression:adipose tissue PMID:23315497|REF_RGD_ID:8547988 11842588 RB1 RB transcriptional corepressor 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:731712 D RGD:9068941 20200609 RGD PMID:14648178|REF_RGD_ID:2299055 11842588 RB1 RB transcriptional corepressor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14672398|PMID:19234134|PMID:20948315 11842588 RB1 RB transcriptional corepressor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:731712 D RGD:9068941 20200609 RGD allelic loss PMID:11108660|REF_RGD_ID:2291991 11842588 RB1 RB transcriptional corepressor 1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:731712 D RGD:9068941 20200609 RGD PMID:1567185|REF_RGD_ID:9698451 11842588 RB1 RB transcriptional corepressor 1 gene DOID:9009116 Urinary Bladder Neoplasm ISO RGD:731712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Urinary Bladder Neoplasms PMID:10486322|PMID:10966849|PMID:12541220|PMID:1352883|PMID:15643604|PMID:16269091|PMID:16449662|PMID:17096365|PMID:18677112|PMID:18682685|PMID:20041224|PMID:23532519|PMID:24225018|PMID:24688104|PMID:25741868|PMID:26925970|PMID:28492532|PMID:28575107|PMID:28724667|PMID:28873162|PMID:7881418|PMID:9632788|PMID:9671401 11842588 RB1 RB transcriptional corepressor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11842588 RB1 RB transcriptional corepressor 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23334668 11842588 RB1 RB transcriptional corepressor 1 gene DOID:9970 obesity ISO RGD:731712 D RGD:9068941 20200609 RGD mRNA:decreased expression:adipose tissue PMID:23315497|REF_RGD_ID:8547988 11842623 TTBK2 tau tubulin kinase 2 gene DOID:0050952 spastic ataxia ISO RGD:1347811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 11842623 TTBK2 tau tubulin kinase 2 gene DOID:0050961 spinocerebellar ataxia type 11 ISO RGD:1347811 D RGD:7240710 20180130 OMIM 11842623 TTBK2 tau tubulin kinase 2 gene DOID:0050961 spinocerebellar ataxia type 11 ISO RGD:1347811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 11 PMID:18037885|PMID:19533200|PMID:20301723|PMID:22073189|PMID:24808823|PMID:25741868|PMID:26063658|PMID:26467025|PMID:27744525|PMID:28492532 11842623 TTBK2 tau tubulin kinase 2 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1347811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia 11842623 TTBK2 tau tubulin kinase 2 gene DOID:2717 Bloom syndrome ISO RGD:1347811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11842623 TTBK2 tau tubulin kinase 2 gene DOID:630 genetic disease ISO RGD:1347811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 11842623 TTBK2 tau tubulin kinase 2 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1347811 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18037885 11842623 TTBK2 tau tubulin kinase 2 gene DOID:9256 colorectal cancer ISO RGD:1347811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11842652 NLRP5 NLR family pyrin domain containing 5 gene DOID:0111705 oculoectodermal syndrome ISO RGD:1348361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome PMID:20738330|PMID:26323243 11842652 NLRP5 NLR family pyrin domain containing 5 gene DOID:630 genetic disease ISO RGD:1348361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11842652 NLRP5 NLR family pyrin domain containing 5 gene DOID:9004994 Embryo Loss ISO RGD:1348361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Preimplantation embryonic lethality 11842652 NLRP5 NLR family pyrin domain containing 5 gene DOID:9006204 Oocyte/Zygote/Embryo Maturation Arrest 19 ISO RGD:1348361 D RGD:7240710 20230505 OMIM 11842652 NLRP5 NLR family pyrin domain containing 5 gene DOID:9006204 Oocyte/Zygote/Embryo Maturation Arrest 19 ISO RGD:1348361 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 19 PMID:35091966|PMID:35946397 11842677 ASCC3 activating signal cointegrator 1 complex subunit 3 gene DOID:0080600 COVID-19 ISO RGD:1344771 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11842677 ASCC3 activating signal cointegrator 1 complex subunit 3 gene DOID:1059 intellectual disability ISO RGD:1344771 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11842677 ASCC3 activating signal cointegrator 1 complex subunit 3 gene DOID:630 genetic disease ISO RGD:1344771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11842728 NUDT16L1 nudix hydrolase 16 like 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1342997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11842728 NUDT16L1 nudix hydrolase 16 like 1 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1342997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 11842728 NUDT16L1 nudix hydrolase 16 like 1 gene DOID:1826 epilepsy ISO RGD:1342997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11842728 NUDT16L1 nudix hydrolase 16 like 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1342997 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11842728 NUDT16L1 nudix hydrolase 16 like 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1342997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 11842728 NUDT16L1 nudix hydrolase 16 like 1 gene DOID:630 genetic disease ISO RGD:1342997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11842741 ARMCX1 armadillo repeat containing X-linked 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11842741 ARMCX1 armadillo repeat containing X-linked 1 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1345943 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 11842741 ARMCX1 armadillo repeat containing X-linked 1 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1345943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 11842741 ARMCX1 armadillo repeat containing X-linked 1 gene DOID:12849 autistic disorder ISO RGD:1345943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11842741 ARMCX1 armadillo repeat containing X-linked 1 gene DOID:630 genetic disease ISO RGD:1345943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11842741 ARMCX1 armadillo repeat containing X-linked 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345943 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11842765 ZNF735 zinc finger protein 735 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1626257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11842765 ZNF735 zinc finger protein 735 gene DOID:630 genetic disease ISO RGD:1626257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11842771 BPGM bisphosphoglycerate mutase gene DOID:0111630 familial erythrocytosis 8 ISO RGD:1605438 D RGD:7240710 20180130 OMIM 11842771 BPGM bisphosphoglycerate mutase gene DOID:0111630 familial erythrocytosis 8 ISO RGD:1605438 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diphosphoglycerate mutase deficiency of erythrocyte PMID:1421379|PMID:15054810|PMID:152321|PMID:25015942|PMID:2542247|PMID:25741868 11842771 BPGM bisphosphoglycerate mutase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11842771 BPGM bisphosphoglycerate mutase gene DOID:630 genetic disease ISO RGD:1605438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11842789 SHPRH SNF2 histone linker PHD RING helicase gene DOID:630 genetic disease ISO RGD:1321190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11842823 GPHA2 glycoprotein hormone subunit alpha 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1346484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11842823 GPHA2 glycoprotein hormone subunit alpha 2 gene DOID:1059 intellectual disability ISO RGD:1346484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11842823 GPHA2 glycoprotein hormone subunit alpha 2 gene DOID:1909 melanoma ISO RGD:1346484 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11842823 GPHA2 glycoprotein hormone subunit alpha 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1346484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11842823 GPHA2 glycoprotein hormone subunit alpha 2 gene DOID:2746 glycogen storage disease V ISO RGD:1346484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11842823 GPHA2 glycoprotein hormone subunit alpha 2 gene DOID:3070 high grade glioma ISO RGD:1346484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11842823 GPHA2 glycoprotein hormone subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1346484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:0050860 colorectal adenoma severity ISO RGD:1606586 D RGD:9068941 20220303 RGD DNA:SNPs:intron, CDS: (rs927650), (rs35051736) (human) PMID:26241700|REF_RGD_ID:11521055 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:0050860 colorectal adenoma treatment ISO RGD:1606586 D RGD:9068941 20220505 RGD DNA:SNP:CDS: (rs2296241) (human) PMID:27978548|REF_RGD_ID:152025254 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1606586 D RGD:9068941 20220317 RGD DNA:SNPs:enhancers: (rs6013897, rs158552, rs17217119) (human) PMID:28009432|REF_RGD_ID:151665179 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:1606586 D RGD:9068941 20220324 RGD DNA:SNP:exon: (rs2296241) (human) PMID:22612324|REF_RGD_ID:151665337 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606586 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:737342 D RGD:9068941 20220421 RGD PMID:22982628|REF_RGD_ID:151708740 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:1074 kidney failure ISO RGD:1606586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8164439 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:11476 osteoporosis ISO RGD:1606586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22337913 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:12678 hypercalcemia ISO RGD:1606586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22337913 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:1324 lung cancer ISO RGD:1606586 D RGD:9068941 20220303 RGD mRNA:increased expression:lung (human) PMID:16180015|REF_RGD_ID:151361183 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:1324 lung cancer sexual_dimorphism ISO RGD:1606586 D RGD:9068941 20220324 RGD DNA:SNP:intron: (rs2765934) (human) PMID:31264381|REF_RGD_ID:151665340 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:1993 rectum cancer susceptibility ISO RGD:1606586 D RGD:9068941 20220324 RGD DNA:SNP:intron: (rs6022999) (human) PMID:31740231|REF_RGD_ID:151665338 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:219 colon cancer ISO RGD:1606586 D RGD:9068941 20220303 RGD mRNA:increased expression:colon (human) PMID:16180015|REF_RGD_ID:151361183 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:219 colon cancer susceptibility ISO RGD:1606586 D RGD:9068941 20220317 RGD DNA:SNP:intron: IVS4-66T>G, (rs4809958) (human) PMID:19706847|REF_RGD_ID:151665174 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:219 colon cancer susceptibility ISO RGD:1606586 D RGD:9068941 20220317 RGD DNA:SNPs:multiple (human) PMID:28811712|REF_RGD_ID:151665177 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:219 colon cancer susceptibility ISO RGD:1606586 D RGD:9068941 20220324 RGD DNA:SNPs:introns: (rs4809960, rs6022999) (human) PMID:31740231|REF_RGD_ID:151665338 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:234 colon adenocarcinoma ISO RGD:1606586 D RGD:9068941 20220317 RGD mRNA:increased expression:colonic mucosa (human) PMID:27793774|REF_RGD_ID:151665173 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:234 colon adenocarcinoma ISO RGD:1606586 D RGD:9068941 20220407 RGD mRNA:increased expression:colon (human) PMID:33791222|REF_RGD_ID:151665790 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:3459 breast carcinoma ISO RGD:1606586 D RGD:9068941 20220303 RGD mRNA:decreased expression:breast (human) PMID:16180015|REF_RGD_ID:151361183 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:3713 ovary adenocarcinoma ISO RGD:1606586 D RGD:9068941 20220303 RGD mRNA:increased expression:ovary (human) PMID:16180015|REF_RGD_ID:151361183 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1606586 D RGD:9068941 20220331 RGD DNA:SNP:CDS: (rs2296241) (human) PMID:28362172|REF_RGD_ID:151665500 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:3905 lung carcinoma susceptibility ISO RGD:1606586 D RGD:9068941 20220407 RGD DNA:SNP:3' utr: (rs4809957) (human) PMID:22797725|REF_RGD_ID:151665791 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1606586 D RGD:9068941 20220421 RGD RNA:increased expression:lung (human) PMID:17671213|REF_RGD_ID:151708738 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1606586 D RGD:9068941 20220303 RGD DNA:SNP:intron 4: (rs3787554) (human) PMID:23435876|REF_RGD_ID:151361182 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1606586 D RGD:9068941 20220303 RGD mRNA:increased expression:lung (human) PMID:21169243|PMID:29250167|REF_RGD_ID:151361179|REF_RGD_ID:151361185 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1606586 D RGD:9068941 20220317 RGD DNA:SNP:exon, intron: (rs6068816, rs2181874) (human) PMID:27669215|REF_RGD_ID:151665175 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1606586 D RGD:9068941 20220407 RGD DNA:SNPs:CDS, 3' utr: (rs6068816, rs4809957) (human) PMID:25544771|REF_RGD_ID:151665789 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1606586 D RGD:9068941 20220421 RGD DNA:SNPs:multiple (human) PMID:29726119|REF_RGD_ID:151708739 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1606586 D RGD:9068941 20220303 RGD DNA:hypomethylation:promoter (human) PMID:24736069|REF_RGD_ID:151361181 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1606586 D RGD:9068941 20220317 RGD human cell line in a mouse model PMID:27793774|REF_RGD_ID:151665173 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1606586 D RGD:9068941 20220331 RGD mRNA:decreased expression:lung (human) PMID:25519225|REF_RGD_ID:151665499 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:4914 esophagus adenocarcinoma treatment ISO RGD:1606586 D RGD:9068941 20220317 RGD mRNA:increased expression:esophagus (human) PMID:30187205|REF_RGD_ID:151665176 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:4947 cholangiocarcinoma ISO RGD:1606586 D RGD:9068941 20220303 RGD protein:increased expression:intrahepatic bile, extrahepatic bile duct (human) PMID:23375797|REF_RGD_ID:151361187 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:5041 esophageal cancer ameliorates ISO RGD:1606586 D RGD:9068941 20220505 RGD RNA:decreased expression:esophagus (human) PMID:14760115|REF_RGD_ID:152025255 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:5409 lung small cell carcinoma susceptibility ISO RGD:1606586 D RGD:9068941 20220324 RGD DNA:SNP:CDS: (rs6068816) (human) PMID:31264381|REF_RGD_ID:151665340 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:585 nephrolithiasis ISO RGD:1606586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22337913 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1606586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:8577 ulcerative colitis susceptibility ISO RGD:1606586 D RGD:9068941 20220317 RGD DNA:SNPs:multiple (human) PMID:28811712|REF_RGD_ID:151665177 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9001738 Hypercalciuria ISO RGD:1606586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22337913 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:1606586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9004271 Colonic Polyps susceptibility ISO RGD:1606586 D RGD:9068941 20220317 RGD DNA:SNPs:multiple (human) PMID:28811712|REF_RGD_ID:151665177 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9004831 Colitis-Associated Neoplasms treatment ISO RGD:737342 D RGD:9068941 20220324 RGD PMID:31877961|REF_RGD_ID:151665341 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1606586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22797725 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9005216 Infantile Hypercalcemia ISO RGD:1606586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile hypercalcemia 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9006743 Spasm ISO RGD:1606586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle spasm PMID:21675912|PMID:22047571|PMID:23001465|PMID:23485543|PMID:24518185|PMID:25194629|PMID:25446019|PMID:25741868|PMID:26097993|PMID:26117226|PMID:27394135|PMID:27798933|PMID:28470390|PMID:28492532|PMID:3490596 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9007094 Hypercalcemia, Infantile, 1 ISO RGD:1606586 D RGD:7240710 20180704 OMIM 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9007094 Hypercalcemia, Infantile, 1 ISO RGD:1606586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypercalcemia, infantile, 1 PMID:19961857|PMID:21675912|PMID:22047571|PMID:22100522|PMID:22112808|PMID:23001465|PMID:23293122|PMID:23423976|PMID:23470222|PMID:23485543|PMID:24033266|PMID:24518185|PMID:25194629|PMID:25375986|PMID:25446019|PMID:25741868|PMID:26097993|PMID:26117226|PMID:26214117|PMID:26846157|PMID:27394135|PMID:27798933|PMID:28109821|PMID:28470390|PMID:28492532|PMID:32375123|PMID:33952337|PMID:3490596 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1606586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16280049 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9256 colorectal cancer ISO RGD:1606586 D RGD:9068941 20220317 RGD mRNA:increased expression:colorectal mucosa (human) PMID:23463632|PMID:24213465|REF_RGD_ID:151361180|REF_RGD_ID:151665178 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9256 colorectal cancer ISO RGD:1606586 D RGD:9068941 20220324 RGD mRNA:increased expression:colorectum (human) PMID:26997443|REF_RGD_ID:11526316 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9256 colorectal cancer ISO RGD:1606586 D RGD:9068941 20220331 RGD circRNA:increased expression:colorectum (human) PMID:32803502|REF_RGD_ID:151665496 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1606586 D RGD:9068941 20220407 RGD mRNA:increased expression:colon (human) PMID:26260259|REF_RGD_ID:151665788 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9256 colorectal cancer severity ISO RGD:1606586 D RGD:9068941 20220324 RGD DNA:SNP:intron: (rs2765934) (human) PMID:28821819|REF_RGD_ID:151665339 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:1606586 D RGD:9068941 20220303 RGD mRNA:splice variants:colorectal mucosa (human) PMID:20398751|REF_RGD_ID:151361186 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1606586 D RGD:9068941 20220317 RGD DNA:SNP:intron: (rs4809960) (human) PMID:31802707|REF_RGD_ID:151665172 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1606586 D RGD:9068941 20220331 RGD DNA:missense mutation:CDS: (rs6022990) (human) PMID:24562971|REF_RGD_ID:151665501 11842836 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1606586 D RGD:9068941 20220421 RGD DNA:SNP:enhancer: (rs6013897) (human) PMID:33504116|REF_RGD_ID:151708714 11842853 KRT38 keratin 38 gene DOID:630 genetic disease ISO RGD:1350539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11842864 AARS2 alanyl-tRNA synthetase 2, mitochondrial gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1321623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:28492532 11842864 AARS2 alanyl-tRNA synthetase 2, mitochondrial gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1321623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Iron accumulation in brain PMID:32581362 11842864 AARS2 alanyl-tRNA synthetase 2, mitochondrial gene DOID:0111479 combined oxidative phosphorylation deficiency 8 ISO RGD:1321623 D RGD:7240710 20180130 OMIM 11842864 AARS2 alanyl-tRNA synthetase 2, mitochondrial gene DOID:0111479 combined oxidative phosphorylation deficiency 8 ISO RGD:1321623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, HYPERTROPHIC MITOCHONDRIAL, FATAL INFANTILE | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8 PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27734837|PMID:27749956|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:29749055|PMID:29971983|PMID:30054184|PMID:30285085|PMID:30819764|PMID:31099476|PMID:31106991|PMID:31885218|PMID:35305867 11842864 AARS2 alanyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1321623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27734837|PMID:27749956|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:29749055|PMID:29971983|PMID:30285085|PMID:31099476|PMID:31885218|PMID:32080176|PMID:32319008|PMID:32581362|PMID:35305867 11842864 AARS2 alanyl-tRNA synthetase 2, mitochondrial gene DOID:9000096 Lung Agenesis ISO RGD:1321623 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pulmonary hypoplasia PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:29971983|PMID:30285085|PMID:30819764|PMID:31106991 11842864 AARS2 alanyl-tRNA synthetase 2, mitochondrial gene DOID:9006658 Progressive Leukoencephalopathy, with Ovarian Failure ISO RGD:1321623 D RGD:7240710 20180130 OMIM 11842864 AARS2 alanyl-tRNA synthetase 2, mitochondrial gene DOID:9006658 Progressive Leukoencephalopathy, with Ovarian Failure ISO RGD:1321623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy, progressive, with ovarian failure PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27734837|PMID:27749956|PMID:28492532|PMID:29440775|PMID:29749055|PMID:29971983|PMID:30285085|PMID:30819764|PMID:31099476|PMID:31885218|PMID:33972171|PMID:35084689|PMID:35305867 11842890 LOC100973110 sodium/nucleoside cotransporter 1 gene DOID:2717 Bloom syndrome ISO RGD:733249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11842890 LOC100973110 sodium/nucleoside cotransporter 1 gene DOID:630 genetic disease ISO RGD:733249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11842890 LOC100973110 sodium/nucleoside cotransporter 1 gene DOID:9002189 High Myopia ISO RGD:733249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11842890 LOC100973110 sodium/nucleoside cotransporter 1 gene DOID:9002276 Uridine-Cytidineuria ISO RGD:733249 D RGD:7240710 20190626 OMIM 11842890 LOC100973110 sodium/nucleoside cotransporter 1 gene DOID:9002276 Uridine-Cytidineuria ISO RGD:733249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uridine-cytidineuria PMID:14978229|PMID:21998139|PMID:30847922 11842890 LOC100973110 sodium/nucleoside cotransporter 1 gene DOID:9008939 Breast Neoplasms ISO RGD:733249 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16837820 11842890 LOC100973110 sodium/nucleoside cotransporter 1 gene DOID:9256 colorectal cancer ISO RGD:733249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11842936 FZR1 fizzy and cell division cycle 20 related 1 gene DOID:12849 autistic disorder ISO RGD:1318646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 11842936 FZR1 fizzy and cell division cycle 20 related 1 gene DOID:630 genetic disease ISO RGD:1318646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11842936 FZR1 fizzy and cell division cycle 20 related 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11842936 FZR1 fizzy and cell division cycle 20 related 1 gene DOID:9005779 Polyploidy ISO RGD:1318646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25123929 11842936 FZR1 fizzy and cell division cycle 20 related 1 gene DOID:9006979 Developmental and Epileptic Encephalopathy 109 ISO RGD:1318646 D RGD:7240710 20221214 OMIM 11842936 FZR1 fizzy and cell division cycle 20 related 1 gene DOID:9006979 Developmental and Epileptic Encephalopathy 109 ISO RGD:1318646 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 109 PMID:31318984|PMID:34788397 11842936 FZR1 fizzy and cell division cycle 20 related 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1318646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11842953 PPM1L protein phosphatase, Mg2+/Mn2+ dependent 1L gene DOID:630 genetic disease ISO RGD:1313118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11842953 PPM1L protein phosphatase, Mg2+/Mn2+ dependent 1L gene DOID:9970 obesity ISO RGD:1313118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18344982 11842961 ACOT13 acyl-CoA thioesterase 13 gene DOID:630 genetic disease ISO RGD:1315172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11842968 HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:1347066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 11842968 HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1347066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11842968 HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1347066 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11842968 HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:12894 Sjogren's syndrome ISO RGD:1347066 D RGD:9068941 20200609 RGD PMID:19264855|REF_RGD_ID:10054311 11842968 HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:630 genetic disease ISO RGD:1347066 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:27545675|PMID:29938792|PMID:32335897 11842968 HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:684 hepatocellular carcinoma ISO RGD:1347066 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:23633480|REF_RGD_ID:9685423 11842968 HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:9001205 Experimental Autoimmune Orchitis ISO RGD:620840 D RGD:9068941 20200609 RGD PMID:16092147|REF_RGD_ID:1624236 11842968 HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 11842968 HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:9006270 Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects ISO RGD:1347066 D RGD:7240710 20221102 OMIM 11842968 HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:9006270 Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects ISO RGD:1347066 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects PMID:25741868|PMID:27545675|PMID:29938792|PMID:32335897 11842968 HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:9008443 Colorectal Neoplasms severity ISO RGD:1347066 D RGD:9068941 20200609 RGD protein:decreased expression:colonic epithelium, nucleus (human) PMID:21194727|REF_RGD_ID:9999439 11842968 HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:9008950 Syndromic X-Linked Mental Retardation, Bain Type ISO RGD:1347066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE PMID:25741868 11843004 OLFML1 olfactomedin like 1 gene DOID:630 genetic disease ISO RGD:1323529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843012 ERC1 ELKS/RAB6-interacting/CAST family member 1 gene DOID:630 genetic disease ISO RGD:1604628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843012 ERC1 ELKS/RAB6-interacting/CAST family member 1 gene DOID:9000271 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation ISO RGD:1604628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation PMID:25741868 11843012 ERC1 ELKS/RAB6-interacting/CAST family member 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1604628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11843056 RNF114 ring finger protein 114 gene DOID:12336 male infertility ISO RGD:1349716 D RGD:9068941 20200609 RGD mRNA:decreased expression:testes (human) PMID:12621547|REF_RGD_ID:1303956 11843056 RNF114 ring finger protein 114 gene DOID:630 genetic disease ISO RGD:1349716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843056 RNF114 ring finger protein 114 gene DOID:8893 psoriasis ISO RGD:1349716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953190 11843070 CLIP1 CAP-Gly domain containing linker protein 1 gene DOID:1059 intellectual disability ISO RGD:69221 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: CLIP1-related intellectual disability 11843070 CLIP1 CAP-Gly domain containing linker protein 1 gene DOID:630 genetic disease ISO RGD:69221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11843070 CLIP1 CAP-Gly domain containing linker protein 1 gene DOID:9007661 Dwarfism ISO RGD:69221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11843070 CLIP1 CAP-Gly domain containing linker protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:69221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11843108 TMC6 transmembrane channel like 6 gene DOID:13777 epidermodysplasia verruciformis ISO RGD:1351267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis PMID:12426567|PMID:15042430|PMID:16199547|PMID:17139267|PMID:17576681|PMID:22158547|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 11843108 TMC6 transmembrane channel like 6 gene DOID:630 genetic disease ISO RGD:1351267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11843108 TMC6 transmembrane channel like 6 gene DOID:9004020 Epidermodysplasia Verruciformis 1 ISO RGD:1351267 D RGD:7240710 20200226 OMIM 11843108 TMC6 transmembrane channel like 6 gene DOID:9004020 Epidermodysplasia Verruciformis 1 ISO RGD:1351267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 PMID:12426567|PMID:15042430|PMID:16199547|PMID:17139267|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11843108 TMC6 transmembrane channel like 6 gene DOID:9006415 Epidermodysplasia Verruciformis 2 ISO RGD:1351267 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 11843146 ZNF689 zinc finger protein 689 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1603925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11843146 ZNF689 zinc finger protein 689 gene DOID:630 genetic disease ISO RGD:1603925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843153 GARIN3 golgi associated RAB2B interactor family member 3 gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1606142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 11843153 GARIN3 golgi associated RAB2B interactor family member 3 gene DOID:630 genetic disease ISO RGD:1606142 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843159 TESC tescalcin gene DOID:630 genetic disease ISO RGD:1606266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843181 LY6D lymphocyte antigen 6 family member D gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1314571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 11843181 LY6D lymphocyte antigen 6 family member D gene DOID:4621 holoprosencephaly ISO RGD:1314571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11843181 LY6D lymphocyte antigen 6 family member D gene DOID:630 genetic disease ISO RGD:1314571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843188 C9orf72 C9orf72-SMCR8 complex subunit gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:1602828 D RGD:7240710 20180130 OMIM 11843188 C9orf72 C9orf72-SMCR8 complex subunit gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:1602828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:25741868|PMID:28492532 11843188 C9orf72 C9orf72-SMCR8 complex subunit gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1602828 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:25442110|PMID:27713094|PMID:28122516|PMID:28478440|PMID:28973294 11843188 C9orf72 C9orf72-SMCR8 complex subunit gene DOID:417 autoimmune disease ISO RGD:1620759 D RGD:9068941 20220825 MouseDO OMIM:109100 | OMIM:607836 | OMIM:613551 11843188 C9orf72 C9orf72-SMCR8 complex subunit gene DOID:5614 eye disease ISO RGD:1602828 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33661518 11843188 C9orf72 C9orf72-SMCR8 complex subunit gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1602828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11843188 C9orf72 C9orf72-SMCR8 complex subunit gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1602828 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:25442110|PMID:27713094 11843188 C9orf72 C9orf72-SMCR8 complex subunit gene DOID:9002955 Nerve Degeneration ISO RGD:1602828 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33661518 11843188 C9orf72 C9orf72-SMCR8 complex subunit gene DOID:9003713 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis ISO RGD:1602828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis/Frontotemporal Dementia 11843203 HEATR5B HEAT repeat containing 5B gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1604000 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: HEATR5B-associated Pontocerebellar hypoplasia PMID:25741868|PMID:33824466 11843203 HEATR5B HEAT repeat containing 5B gene DOID:630 genetic disease ISO RGD:1604000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843253 ACAT1 acetyl-CoA acetyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:737017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11843253 ACAT1 acetyl-CoA acetyltransferase 1 gene DOID:1184 nephrotic syndrome ISO RGD:2016 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:19147991|REF_RGD_ID:2307223 11843253 ACAT1 acetyl-CoA acetyltransferase 1 gene DOID:12704 ataxia telangiectasia ISO RGD:737017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11843253 ACAT1 acetyl-CoA acetyltransferase 1 gene DOID:14723 beta-ketothiolase deficiency ISO RGD:737017 D RGD:7240710 20180130 OMIM 11843253 ACAT1 acetyl-CoA acetyltransferase 1 gene DOID:14723 beta-ketothiolase deficiency ISO RGD:737017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:11161836|PMID:11161837|PMID:11914035|PMID:12754704|PMID:1346617|PMID:1373235|PMID:14518824|PMID:15128923|PMID:15877211|PMID:16199547|PMID:1627655|PMID:1715688|PMID:17236799|PMID:17576681|PMID:18511318|PMID:19763152|PMID:20046049|PMID:20156697|PMID:20157782|PMID:20307669|PMID:20488739|PMID:21669895|PMID:22406018|PMID:23430882|PMID:23958592|PMID:24516753|PMID:24517888|PMID:25559898|PMID:25640679|PMID:25741868|PMID:27264805|PMID:27748876|PMID:27928777|PMID:28220263|PMID:28255778|PMID:28361105|PMID:28393214|PMID:28492532|PMID:28689740|PMID:28726122|PMID:28875337|PMID:29402417|PMID:29624230|PMID:30393371|PMID:30835345|PMID:31156707|PMID:31268215|PMID:32778825|PMID:34001203|PMID:34298581|PMID:4690360|PMID:7173255|PMID:7728148|PMID:7728155|PMID:7749408|PMID:7907600|PMID:8103405|PMID:9536098|PMID:9700610|PMID:9744475 11843253 ACAT1 acetyl-CoA acetyltransferase 1 gene DOID:2349 arteriosclerosis ISO RGD:737017 D RGD:9068941 20200609 RGD mRNA:increased expression:atherosclerotic lesions (human) PMID:15961705|REF_RGD_ID:1581042 11843253 ACAT1 acetyl-CoA acetyltransferase 1 gene DOID:2978 carbohydrate metabolic disorder ISO RGD:737017 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:7617578|REF_RGD_ID:2326222 11843253 ACAT1 acetyl-CoA acetyltransferase 1 gene DOID:630 genetic disease ISO RGD:737017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11843253 ACAT1 acetyl-CoA acetyltransferase 1 gene DOID:783 end stage renal disease ISO RGD:2016 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:19878707|REF_RGD_ID:2326081 11843253 ACAT1 acetyl-CoA acetyltransferase 1 gene DOID:783 end stage renal disease ISO RGD:737017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 11843253 ACAT1 acetyl-CoA acetyltransferase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11843253 ACAT1 acetyl-CoA acetyltransferase 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:737017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11843269 COMMD10 COMM domain containing 10 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1346630 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11843269 COMMD10 COMM domain containing 10 gene DOID:12849 autistic disorder ISO RGD:1346630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11843269 COMMD10 COMM domain containing 10 gene DOID:630 genetic disease ISO RGD:1346630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843269 COMMD10 COMM domain containing 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11843269 COMMD10 COMM domain containing 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346630 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11843285 KCNIP4 potassium voltage-gated channel interacting protein 4 gene DOID:630 genetic disease ISO RGD:733209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843305 TRIM69 tripartite motif containing 69 gene DOID:0050712 AGAT deficiency ISO RGD:1312888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 11843305 TRIM69 tripartite motif containing 69 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1312888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 11843305 TRIM69 tripartite motif containing 69 gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1312888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 PMID:28492532 11843305 TRIM69 tripartite motif containing 69 gene DOID:2717 Bloom syndrome ISO RGD:1312888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11843305 TRIM69 tripartite motif containing 69 gene DOID:630 genetic disease ISO RGD:1312888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843305 TRIM69 tripartite motif containing 69 gene DOID:9256 colorectal cancer ISO RGD:1312888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11843321 SGTB small glutamine rich tetratricopeptide repeat co-chaperone beta gene DOID:630 genetic disease ISO RGD:1353974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843321 SGTB small glutamine rich tetratricopeptide repeat co-chaperone beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11843336 SHISAL1 shisa like 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:2303456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11843336 SHISAL1 shisa like 1 gene DOID:1059 intellectual disability ISO RGD:2303456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11843350 SIT1 signaling threshold regulating transmembrane adaptor 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1601761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11843350 SIT1 signaling threshold regulating transmembrane adaptor 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1601761 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11843350 SIT1 signaling threshold regulating transmembrane adaptor 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:1601761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11843350 SIT1 signaling threshold regulating transmembrane adaptor 1 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1601761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11843350 SIT1 signaling threshold regulating transmembrane adaptor 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1601761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11843350 SIT1 signaling threshold regulating transmembrane adaptor 1 gene DOID:630 genetic disease ISO RGD:1601761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843350 SIT1 signaling threshold regulating transmembrane adaptor 1 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1601761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11843350 SIT1 signaling threshold regulating transmembrane adaptor 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1601761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11843350 SIT1 signaling threshold regulating transmembrane adaptor 1 gene DOID:9870 galactosemia ISO RGD:1601761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11843369 SH3GL3 SH3 domain containing GRB2 like 3, endophilin A3 gene DOID:13938 amenorrhea ISO RGD:731323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11843369 SH3GL3 SH3 domain containing GRB2 like 3, endophilin A3 gene DOID:2717 Bloom syndrome ISO RGD:731323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11843369 SH3GL3 SH3 domain containing GRB2 like 3, endophilin A3 gene DOID:630 genetic disease ISO RGD:731323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843369 SH3GL3 SH3 domain containing GRB2 like 3, endophilin A3 gene DOID:9256 colorectal cancer ISO RGD:731323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11843393 GLYATL3 glycine-N-acyltransferase like 3 gene DOID:630 genetic disease ISO RGD:1348263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843403 LOC100988995 keratin-associated protein 25-1 gene DOID:630 genetic disease ISO RGD:2293249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843408 PADI2 peptidyl arginine deiminase 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1348232 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11843408 PADI2 peptidyl arginine deiminase 2 gene DOID:0080600 COVID-19 ISO RGD:1348232 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11843408 PADI2 peptidyl arginine deiminase 2 gene DOID:630 genetic disease ISO RGD:1348232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843408 PADI2 peptidyl arginine deiminase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1348232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis 11843408 PADI2 peptidyl arginine deiminase 2 gene DOID:9008037 Paragangliomas 4 ISO RGD:1348232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paragangliomas 4 PMID:18057081 11843408 PADI2 peptidyl arginine deiminase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:16258955|PMID:19351833|PMID:23666964|PMID:28492532 11843428 TMEM129 transmembrane protein 129, E3 ubiquitin ligase gene DOID:1856 cherubism ISO RGD:1606992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11843428 TMEM129 transmembrane protein 129, E3 ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1606992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843438 C19H19orf33 chromosome 19 C19orf33 homolog gene DOID:4905 pancreatic carcinoma ISO RGD:1354281 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35142956 11843438 C19H19orf33 chromosome 19 C19orf33 homolog gene DOID:630 genetic disease ISO RGD:1354281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843438 C19H19orf33 chromosome 19 C19orf33 homolog gene DOID:9000918 Disease Progression ISO RGD:1354281 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35142956 11843446 COG7 component of oligomeric golgi complex 7 gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:1349178 D RGD:7240710 20180130 OMIM 11843446 COG7 component of oligomeric golgi complex 7 gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:1349178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:15107842|PMID:16199547|PMID:17356545|PMID:17395513|PMID:17576681|PMID:19577670|PMID:21811164|PMID:25741868|PMID:25741869|PMID:28492532|PMID:30653653|PMID:31785789|PMID:9536098 11843446 COG7 component of oligomeric golgi complex 7 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1349178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:28492532 11843446 COG7 component of oligomeric golgi complex 7 gene DOID:630 genetic disease ISO RGD:1349178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:30653653|PMID:9536098 11843446 COG7 component of oligomeric golgi complex 7 gene DOID:630 genetic disease susceptibility ISO RGD:1349178 D RGD:9068941 20200609 RGD congenital disorder of glycosylation, type IIe, OMIM:608779;DNA:transversion:intron:IVS1+4A>C PMID:15107842|REF_RGD_ID:1600879 11843467 OC90 otoconin 90 gene DOID:3426 vestibular disease ISO RGD:1606848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21269433 11843467 OC90 otoconin 90 gene DOID:630 genetic disease ISO RGD:1606848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843490 CRYBA1 crystallin beta A1 gene DOID:0110014 age related macular degeneration 1 ISO RGD:736651 D RGD:9068941 20220825 MouseDO OMIM:603075 11843490 CRYBA1 crystallin beta A1 gene DOID:0110258 cataract 10 multiple types ISO RGD:736650 D RGD:7240710 20180130 OMIM 11843490 CRYBA1 crystallin beta A1 gene DOID:0110258 cataract 10 multiple types ISO RGD:736650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 10 multiple types PMID:11006214|PMID:14598164|PMID:14693780|PMID:16199547|PMID:17576681|PMID:20142846|PMID:21139983|PMID:21850182|PMID:21866213|PMID:22919269|PMID:24281366|PMID:25741868|PMID:26851658|PMID:28492532|PMID:9536098|PMID:9788845 11843490 CRYBA1 crystallin beta A1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:736650 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 11843490 CRYBA1 crystallin beta A1 gene DOID:10629 microphthalmia ISO RGD:2415 D RGD:9068941 20210521 RGD PMID:15721615|REF_RGD_ID:126925760 11843490 CRYBA1 crystallin beta A1 gene DOID:5327 retinal detachment ISO RGD:2415 D RGD:9068941 20200918 RGD PMID:26303524|REF_RGD_ID:38676460 11843490 CRYBA1 crystallin beta A1 gene DOID:630 genetic disease ISO RGD:736650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11006214|PMID:14693780|PMID:21139983|PMID:21866213|PMID:22919269|PMID:25741868|PMID:26851658|PMID:28492532|PMID:9788845 11843490 CRYBA1 crystallin beta A1 gene DOID:83 cataract ISO RGD:2415 D RGD:9068941 20210521 RGD PMID:15721615|PMID:17931883|REF_RGD_ID:126925760|REF_RGD_ID:2303652 11843490 CRYBA1 crystallin beta A1 gene DOID:83 cataract ISO RGD:736650 D RGD:9068941 20200609 RGD DNA:splice-site mutation:intron:IVS3+1G>A(human) PMID:20142846|REF_RGD_ID:10059642 11843490 CRYBA1 crystallin beta A1 gene DOID:83 cataract ISO RGD:736650 D RGD:9068941 20200609 RGD DNA:splice-site mutation:intron:IVS3+1G>T(human) PMID:21850182|REF_RGD_ID:10059641 11843490 CRYBA1 crystallin beta A1 gene DOID:83 cataract ISO RGD:736650 D RGD:9068941 20200609 RGD DNA:splice-site mutation:intron:c.215+1G>A (human) PMID:22919269|REF_RGD_ID:10059634 11843490 CRYBA1 crystallin beta A1 gene DOID:83 cataract ISO RGD:736650 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;mRNA,protein:increased expression:lens: PMID:24520233|REF_RGD_ID:10059653 11843490 CRYBA1 crystallin beta A1 gene DOID:9005232 Reticular Dystrophy of Retinal Pigment Epithelium ISO RGD:2415 D RGD:9068941 20210521 RGD mRNA:increased expression:retinal pigmented epithelium (rat) PMID:21266465|REF_RGD_ID:126925759 11843490 CRYBA1 crystallin beta A1 gene DOID:9008035 Cataract, Autosomal Dominant Nuclear ISO RGD:736650 D RGD:9068941 20200609 RGD DNA:splice-site mutaion:intron: IVS3+2 T>G (human) PMID:22665976|REF_RGD_ID:10059638 11843490 CRYBA1 crystallin beta A1 gene DOID:9282 ocular hypertension ISO RGD:2415 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina PMID:17102796|REF_RGD_ID:1601004 11843500 MOB1A MOB kinase activator 1A gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1315956 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11843500 MOB1A MOB kinase activator 1A gene DOID:543 dystonia ISO RGD:1315956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11843500 MOB1A MOB kinase activator 1A gene DOID:630 genetic disease ISO RGD:1315956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843500 MOB1A MOB kinase activator 1A gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1315956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11843514 CENPC centromere protein C gene DOID:0060218 CREST syndrome ISO RGD:1354407 D RGD:9068941 20200609 RGD associated with Anticentromere antibody positivity PMID:25220385|REF_RGD_ID:27372886 11843514 CENPC centromere protein C gene DOID:5082 liver cirrhosis ISO RGD:1354407 D RGD:9068941 20200609 RGD associated with Anticentromere antibody positivity PMID:25220385|REF_RGD_ID:27372886 11843514 CENPC centromere protein C gene DOID:630 genetic disease ISO RGD:1354407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843514 CENPC centromere protein C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11843537 LOC100995668 V-type proton ATPase subunit S1-like protein gene DOID:630 genetic disease ISO RGD:1603596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843537 LOC100995668 V-type proton ATPase subunit S1-like protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11843537 LOC100995668 V-type proton ATPase subunit S1-like protein gene DOID:9008939 Breast Neoplasms ISO RGD:1603596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 11843546 EN2 engrailed homeobox 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1343015 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25290267 11843546 EN2 engrailed homeobox 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1557783 D RGD:9068941 20220825 MouseDO 11843546 EN2 engrailed homeobox 2 gene DOID:0080855 Parkinsonism ISO RGD:1618434 D RGD:9068941 20200609 RGD PMID:17015829|REF_RGD_ID:5687199 11843546 EN2 engrailed homeobox 2 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1343015 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:23370340|PMID:24095820|PMID:28492532|PMID:29992659|PMID:31334757 11843546 EN2 engrailed homeobox 2 gene DOID:12849 autistic disorder ISO RGD:1343015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism, susceptibility to, 10 | ClinVar Annotator: match by term: Epsilon-trimethyllysine hydroxylase deficiency PMID:15024396|PMID:16252243|PMID:21681106|PMID:30208311 11843546 EN2 engrailed homeobox 2 gene DOID:12849 autistic disorder susceptibility ISO RGD:1343015 D RGD:9068941 20200806 RGD DNA:SNPs:intron:rs1861972, rs1861973(human) PMID:15024396|REF_RGD_ID:1358620 11843546 EN2 engrailed homeobox 2 gene DOID:630 genetic disease ISO RGD:1343015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843546 EN2 engrailed homeobox 2 gene DOID:9001661 Taste Disorders ISO RGD:1343015 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29953887 11843591 TAF3 TATA-box binding protein associated factor 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1323524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11843591 TAF3 TATA-box binding protein associated factor 3 gene DOID:630 genetic disease ISO RGD:1323524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843614 ITGB3BP integrin subunit beta 3 binding protein gene DOID:1059 intellectual disability ISO RGD:1320718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11843614 ITGB3BP integrin subunit beta 3 binding protein gene DOID:289 endometriosis ISO RGD:1320718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 11843614 ITGB3BP integrin subunit beta 3 binding protein gene DOID:630 genetic disease ISO RGD:1320718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843634 CARHSP1 calcium regulated heat stable protein 1 gene DOID:0060174 GABA aminotransferase deficiency ISO RGD:733909 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency PMID:25738457|PMID:28492532 11843634 CARHSP1 calcium regulated heat stable protein 1 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:733909 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 11843634 CARHSP1 calcium regulated heat stable protein 1 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:733909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 11843634 CARHSP1 calcium regulated heat stable protein 1 gene DOID:5812 MHC class II deficiency ISO RGD:733909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11843634 CARHSP1 calcium regulated heat stable protein 1 gene DOID:630 genetic disease ISO RGD:733909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843634 CARHSP1 calcium regulated heat stable protein 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:708415 D RGD:9068941 20200925 RGD PMID:19997081|REF_RGD_ID:39128203 11843660 LOC100981815 olfactory receptor 5B12 gene DOID:1059 intellectual disability ISO RGD:1354162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11843660 LOC100981815 olfactory receptor 5B12 gene DOID:630 genetic disease ISO RGD:1354162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843666 RNF216 ring finger protein 216 gene DOID:0081284 rosette-forming glioneuronal tumor ISO RGD:1604006 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor PMID:26822237|PMID:27626068 11843666 RNF216 ring finger protein 216 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1604006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25558065 11843666 RNF216 ring finger protein 216 gene DOID:0111587 Gordon Holmes syndrome ISO RGD:1604006 D RGD:7240710 20180130 OMIM 11843666 RNF216 ring finger protein 216 gene DOID:0111587 Gordon Holmes syndrome ISO RGD:1604006 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome PMID:11932290|PMID:23656588|PMID:25741868|PMID:25841028|PMID:28492532|PMID:32982993 11843666 RNF216 ring finger protein 216 gene DOID:630 genetic disease ISO RGD:1604006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11843691 SGCA sarcoglycan alpha gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1317616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:25741868|PMID:28492532 11843691 SGCA sarcoglycan alpha gene DOID:0050700 cardiomyopathy ISO RGD:1317616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12746421|PMID:18285821|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31931849 11843691 SGCA sarcoglycan alpha gene DOID:0060224 atrial fibrillation ISO RGD:1317616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 11843691 SGCA sarcoglycan alpha gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1317616 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy PMID:10942431|PMID:12075495|PMID:12566530|PMID:12746421|PMID:15298081|PMID:17994539|PMID:18285821|PMID:18421900|PMID:18535179|PMID:18996010|PMID:19798725|PMID:21031578|PMID:22095924|PMID:24033266|PMID:24565866|PMID:24742800|PMID:25135358|PMID:25214167|PMID:25741868|PMID:26404900|PMID:26453141|PMID:26467025|PMID:26916285|PMID:26934379|PMID:27120200|PMID:28403181|PMID:28492532|PMID:29382405|PMID:30703231|PMID:30764848|PMID:30919934|PMID:31407473|PMID:31517061|PMID:31791368|PMID:31847883|PMID:7663524|PMID:7668821|PMID:8069911|PMID:9032047|PMID:9153448|PMID:9192266|PMID:9393893|PMID:9585331 11843691 SGCA sarcoglycan alpha gene DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D ISO RGD:1317616 D RGD:7240710 20180130 OMIM 11843691 SGCA sarcoglycan alpha gene DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D ISO RGD:1317616 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D | ClinVar Annotator: match by term: Duchenne-like autosomal recessive muscular dystrophy, type 2 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Sarcoglycanopathy PMID:10842281|PMID:10942431|PMID:10993494|PMID:11121445|PMID:11475588|PMID:11693784|PMID:12075495|PMID:12566530|PMID:12746421|PMID:14595658|PMID:15298081|PMID:15736300|PMID:15833425|PMID:16199547|PMID:16616845|PMID:16778590|PMID:16787395|PMID:17562833|PMID:17576681|PMID:17994539|PMID:18252745|PMID:18285821|PMID:18414213|PMID:18421900|PMID:18535179|PMID:18996010|PMID:19781108|PMID:19798725|PMID:19835634|PMID:20623375|PMID:21031578|PMID:21856579|PMID:22095924|PMID:22303798|PMID:24033266|PMID:24464767|PMID:24565866|PMID:24742800|PMID:25046369|PMID:25106685|PMID:25135358|PMID:25214167|PMID:25741868|PMID:26404900|PMID:26453141|PMID:26467025|PMID:26916285|PMID:26934379|PMID:26944168|PMID:27066551|PMID:27120200|PMID:27363342|PMID:27906075|PMID:28403181|PMID:28492532|PMID:28687063|PMID:29351619|PMID:29382405|PMID:29970176|PMID:30107846|PMID:30218921|PMID:30345904|PMID:30564623|PMID:30703231|PMID:30764848|PMID:30838351|PMID:30919934|PMID:31061434|PMID:31066050|PMID:31069529|PMID:31127727|PMID:31130284|PMID:31268554|PMID:31407473|PMID:31517061|PMID:31791368|PMID:31847883|PMID:31931849|PMID:32528171|PMID:32875335|PMID:33386810|PMID:7657792|PMID:7663524|PMID:7668821|PMID:8069911|PMID:8528203|PMID:8866424|PMID:9032047|PMID:9153448|PMID:9192266|PMID:9266733|PMID:9393893|PMID:9455986|PMID:9536098|PMID:9585331 11843691 SGCA sarcoglycan alpha gene DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D treatment ISO RGD:1317616 D RGD:9068941 20200609 RGD PMID:17653106|REF_RGD_ID:13605612 11843691 SGCA sarcoglycan alpha gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:1317616 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:17078022|PMID:19344236|PMID:23949819|PMID:25944380|PMID:26478226|PMID:28492532|PMID:7695699|PMID:7942841|PMID:8218237|PMID:9016532|PMID:9295084|PMID:9443882 11843691 SGCA sarcoglycan alpha gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 11843691 SGCA sarcoglycan alpha gene DOID:630 genetic disease ISO RGD:1317616 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 11843691 SGCA sarcoglycan alpha gene DOID:767 muscular atrophy ISO RGD:1308062 D RGD:9068941 20200609 RGD protein:decreased expression:gastrocnemius PMID:12107060|REF_RGD_ID:625642 11843691 SGCA sarcoglycan alpha gene DOID:9884 muscular dystrophy ISO RGD:1317616 D RGD:9068941 20200609 RGD PMID:8069911|PMID:9192266|REF_RGD_ID:1599344|REF_RGD_ID:1599345 11843691 SGCA sarcoglycan alpha gene DOID:9884 muscular dystrophy ISO RGD:1317617 D RGD:9068941 20200609 RGD PMID:9744877|REF_RGD_ID:13605611 11843710 NOTCH2 notch receptor 2 gene DOID:0050722 PHGDH deficiency ISO RGD:733357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:28492532 11843710 NOTCH2 notch receptor 2 gene DOID:0060041 autism spectrum disorder ISO RGD:733357 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11843710 NOTCH2 notch receptor 2 gene DOID:0080205 CAKUT ISO RGD:733357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868 11843710 NOTCH2 notch receptor 2 gene DOID:10487 Hirschsprung's disease ISO RGD:733357 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:24728327|PMID:25741868|PMID:28492532 11843710 NOTCH2 notch receptor 2 gene DOID:10591 pre-eclampsia ISO RGD:736047 D RGD:9068941 20220825 MouseDO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 11843710 NOTCH2 notch receptor 2 gene DOID:1074 kidney failure ISO RGD:733357 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32715474 11843710 NOTCH2 notch receptor 2 gene DOID:14679 VACTERL association ISO RGD:733357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: VATER association PMID:25741868|PMID:28492532 11843710 NOTCH2 notch receptor 2 gene DOID:1749 squamous cell carcinoma ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27923803 11843710 NOTCH2 notch receptor 2 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:733357 D RGD:7240710 20180130 OMIM 11843710 NOTCH2 notch receptor 2 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:733357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar Annotator: match by term: SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME PMID:16773578|PMID:17159511|PMID:17576681|PMID:21378985|PMID:21378989|PMID:21681853|PMID:21712856|PMID:22209762|PMID:22891273|PMID:22891276|PMID:24728327|PMID:25741868|PMID:25741915|PMID:26184537|PMID:27312922|PMID:27592446|PMID:28492532|PMID:28512196|PMID:28566479|PMID:28776642|PMID:28941602|PMID:31130284|PMID:31595186|PMID:32164334|PMID:32341259|PMID:32368696|PMID:33448881|PMID:8723560|PMID:8755249|PMID:9536098 11843710 NOTCH2 notch receptor 2 gene DOID:2986 IgA glomerulonephritis ISO RGD:733357 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32715474 11843710 NOTCH2 notch receptor 2 gene DOID:3068 glioblastoma ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 11843710 NOTCH2 notch receptor 2 gene DOID:3069 malignant astrocytoma ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 11843710 NOTCH2 notch receptor 2 gene DOID:3149 keratoacanthoma ISO RGD:733357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoacanthoma PMID:27283355 11843710 NOTCH2 notch receptor 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 11843710 NOTCH2 notch receptor 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:733357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868|PMID:28492532 11843710 NOTCH2 notch receptor 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11843710 NOTCH2 notch receptor 2 gene DOID:630 genetic disease ISO RGD:733357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11843710 NOTCH2 notch receptor 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30670679 11843710 NOTCH2 notch receptor 2 gene DOID:9000784 Fibrosis ISO RGD:733357 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32715474 11843710 NOTCH2 notch receptor 2 gene DOID:9000812 Acroosteolysis Dominant Type ISO RGD:733357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acroosteolysis dominant type PMID:24728327|PMID:25741868|PMID:28492532|PMID:28566479|PMID:28776642 11843710 NOTCH2 notch receptor 2 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:733357 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32715474 11843710 NOTCH2 notch receptor 2 gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 11843710 NOTCH2 notch receptor 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25061499 11843710 NOTCH2 notch receptor 2 gene DOID:9004286 Hirschsprung Disease 1 ISO RGD:733357 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hirschsprung disease 1 PMID:24728327|PMID:25741868|PMID:28492532 11843710 NOTCH2 notch receptor 2 gene DOID:9004464 Skin Neoplasms ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27923803 11843710 NOTCH2 notch receptor 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30670679 11843710 NOTCH2 notch receptor 2 gene DOID:9005172 Lung Neoplasms ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17804716 11843710 NOTCH2 notch receptor 2 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 11843710 NOTCH2 notch receptor 2 gene DOID:9006182 Carotid Artery Injuries ISO RGD:3188 D RGD:9068941 20200609 RGD PMID:11971902|REF_RGD_ID:625426 11843710 NOTCH2 notch receptor 2 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:733357 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis PMID:21378985|PMID:21378989|PMID:22891273|PMID:22891276|PMID:25741868|PMID:27312922|PMID:28492532|PMID:8755249 11843710 NOTCH2 notch receptor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 11843710 NOTCH2 notch receptor 2 gene DOID:9245 Alagille syndrome ISO RGD:733357 D RGD:7240710 20180130 OMIM 11843710 NOTCH2 notch receptor 2 gene DOID:9245 Alagille syndrome ISO RGD:733357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2 PMID:16773578|PMID:24728327|PMID:25016221|PMID:25741868|PMID:28492532|PMID:28512196|PMID:28566479|PMID:28776642|PMID:28941602|PMID:31749841 11843710 NOTCH2 notch receptor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18372903 11843710 NOTCH2 notch receptor 2 gene DOID:9538 multiple myeloma ISO RGD:733357 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow (human) PMID:14726396|REF_RGD_ID:1580763 11843744 PTPN12 protein tyrosine phosphatase non-receptor type 12 gene DOID:1520 colon carcinoma ISO RGD:1346224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:7509295 11843744 PTPN12 protein tyrosine phosphatase non-receptor type 12 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11843744 PTPN12 protein tyrosine phosphatase non-receptor type 12 gene DOID:630 genetic disease ISO RGD:1346224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843744 PTPN12 protein tyrosine phosphatase non-receptor type 12 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1346224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 11843744 PTPN12 protein tyrosine phosphatase non-receptor type 12 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1346224 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 11843744 PTPN12 protein tyrosine phosphatase non-receptor type 12 gene DOID:9256 colorectal cancer ISO RGD:1346224 D RGD:7240710 20200226 OMIM 11843770 UGGT1 UDP-glucose glycoprotein glucosyltransferase 1 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1343925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 11843770 UGGT1 UDP-glucose glycoprotein glucosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1343925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843827 AEN apoptosis enhancing nuclease gene DOID:2717 Bloom syndrome ISO RGD:1601976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11843827 AEN apoptosis enhancing nuclease gene DOID:630 genetic disease ISO RGD:1601976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843827 AEN apoptosis enhancing nuclease gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1601976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11843827 AEN apoptosis enhancing nuclease gene DOID:9256 colorectal cancer ISO RGD:1601976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11843852 FUT10 fucosyltransferase 10 gene DOID:630 genetic disease ISO RGD:1354084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843861 CD320 CD320 molecule gene DOID:0060741 methylmalonic acidemia due to transcobalamin receptor defect ISO RGD:1352822 D RGD:7240710 20180130 OMIM 11843861 CD320 CD320 molecule gene DOID:0060741 methylmalonic acidemia due to transcobalamin receptor defect ISO RGD:1352822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia due to transcobalamin receptor defect PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11843861 CD320 CD320 molecule gene DOID:0080490 mucolipidosis type IV ISO RGD:1352822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 11843861 CD320 CD320 molecule gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1352822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 11843861 CD320 CD320 molecule gene DOID:12849 autistic disorder ISO RGD:1352822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11843861 CD320 CD320 molecule gene DOID:630 genetic disease ISO RGD:1352822 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11843870 ARHGAP26 Rho GTPase activating protein 26 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1322105 D RGD:7240710 20180130 OMIM 11843870 ARHGAP26 Rho GTPase activating protein 26 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1322105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:10908648 11843870 ARHGAP26 Rho GTPase activating protein 26 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1322105 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11843870 ARHGAP26 Rho GTPase activating protein 26 gene DOID:0081082 acute myelomonocytic leukemia ISO RGD:1322105 D RGD:9068941 20200609 RGD juvenile myelomonocytic leukemia, OMIM:607785 translocation t(5;11)(q31;q23) fusing ARHGAP26 to MLL in one allele and point mutation A1255G/Asn417Ser or one of two insertions in second allele PMID:10908648|REF_RGD_ID:1599311 11843870 ARHGAP26 Rho GTPase activating protein 26 gene DOID:630 genetic disease ISO RGD:1322105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843870 ARHGAP26 Rho GTPase activating protein 26 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11843870 ARHGAP26 Rho GTPase activating protein 26 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322105 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11843911 NAPRT nicotinate phosphoribosyltransferase gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1602193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11843911 NAPRT nicotinate phosphoribosyltransferase gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1602193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11843911 NAPRT nicotinate phosphoribosyltransferase gene DOID:4621 holoprosencephaly ISO RGD:1602193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11843911 NAPRT nicotinate phosphoribosyltransferase gene DOID:630 genetic disease ISO RGD:1602193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843928 ZDHHC7 zinc finger DHHC-type palmitoyltransferase 7 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1351877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 11843928 ZDHHC7 zinc finger DHHC-type palmitoyltransferase 7 gene DOID:5419 schizophrenia ISO RGD:1351877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11843928 ZDHHC7 zinc finger DHHC-type palmitoyltransferase 7 gene DOID:630 genetic disease ISO RGD:1351877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843944 MIIP migration and invasion inhibitory protein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602214 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11843944 MIIP migration and invasion inhibitory protein gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602214 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11843944 MIIP migration and invasion inhibitory protein gene DOID:630 genetic disease ISO RGD:1602214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843964 PPFIA1 PTPRF interacting protein alpha 1 gene DOID:1059 intellectual disability ISO RGD:1319111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11843964 PPFIA1 PTPRF interacting protein alpha 1 gene DOID:630 genetic disease ISO RGD:1319111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11843999 FAM217A family with sequence similarity 217 member A gene DOID:630 genetic disease ISO RGD:1345120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844010 NUDCD3 NudC domain containing 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11844010 NUDCD3 NudC domain containing 3 gene DOID:630 genetic disease ISO RGD:1344595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844010 NUDCD3 NudC domain containing 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1344595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11844020 JADE2 jade family PHD finger 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1319333 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11844020 JADE2 jade family PHD finger 2 gene DOID:630 genetic disease ISO RGD:1319333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844020 JADE2 jade family PHD finger 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11844020 JADE2 jade family PHD finger 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11844020 JADE2 jade family PHD finger 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319333 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11844020 JADE2 jade family PHD finger 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1319333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 11844036 MYCT1 MYC target 1 gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:1322941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:28492532 11844036 MYCT1 MYC target 1 gene DOID:630 genetic disease ISO RGD:1322941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844045 MAGEE1 MAGE family member E1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11844045 MAGEE1 MAGE family member E1 gene DOID:0080600 COVID-19 ISO RGD:1349261 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11844045 MAGEE1 MAGE family member E1 gene DOID:12849 autistic disorder ISO RGD:1349261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11844045 MAGEE1 MAGE family member E1 gene DOID:4138 bile duct disease ISO RGD:1349261 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30515189 11844045 MAGEE1 MAGE family member E1 gene DOID:630 genetic disease ISO RGD:1349261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844045 MAGEE1 MAGE family member E1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349261 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11844051 SKAP2 src kinase associated phosphoprotein 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11844051 SKAP2 src kinase associated phosphoprotein 2 gene DOID:630 genetic disease ISO RGD:1345057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844051 SKAP2 src kinase associated phosphoprotein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345057 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11844106 ZSCAN9 zinc finger and SCAN domain containing 9 gene DOID:11372 megacolon ISO RGD:1347085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11844106 ZSCAN9 zinc finger and SCAN domain containing 9 gene DOID:630 genetic disease ISO RGD:1347085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844119 TNFRSF14 TNF receptor superfamily member 14 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1320832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11844119 TNFRSF14 TNF receptor superfamily member 14 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1320832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11844119 TNFRSF14 TNF receptor superfamily member 14 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1320832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11844119 TNFRSF14 TNF receptor superfamily member 14 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1320832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11844119 TNFRSF14 TNF receptor superfamily member 14 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1320832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11844119 TNFRSF14 TNF receptor superfamily member 14 gene DOID:0111934 immunodeficiency 38 ISO RGD:1320832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11844119 TNFRSF14 TNF receptor superfamily member 14 gene DOID:0111935 immunodeficiency 16 ISO RGD:1320832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11844119 TNFRSF14 TNF receptor superfamily member 14 gene DOID:10608 celiac disease ISO RGD:1320832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 11844119 TNFRSF14 TNF receptor superfamily member 14 gene DOID:2349 arteriosclerosis ISO RGD:1320832 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery, atherosclerotic lesions (human) PMID:11742877|REF_RGD_ID:2317295 11844119 TNFRSF14 TNF receptor superfamily member 14 gene DOID:5844 myocardial infarction ISO RGD:1310115 D RGD:9068941 20200609 RGD protein:increased expression:heart, cardiomyocyte, endothelial cell (rat) PMID:18353719|REF_RGD_ID:2317281 11844119 TNFRSF14 TNF receptor superfamily member 14 gene DOID:630 genetic disease ISO RGD:1320832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844119 TNFRSF14 TNF receptor superfamily member 14 gene DOID:7148 rheumatoid arthritis ISO RGD:1320832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842 11844119 TNFRSF14 TNF receptor superfamily member 14 gene DOID:9000998 Brain Injuries ISO RGD:1320832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 11844119 TNFRSF14 TNF receptor superfamily member 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11844119 TNFRSF14 TNF receptor superfamily member 14 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1320832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11844119 TNFRSF14 TNF receptor superfamily member 14 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1320832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11844144 LVRN laeverin gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604505 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11844144 LVRN laeverin gene DOID:12849 autistic disorder ISO RGD:1604505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11844144 LVRN laeverin gene DOID:630 genetic disease ISO RGD:1604505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844144 LVRN laeverin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11844144 LVRN laeverin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604505 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11844168 APBA3 amyloid beta precursor protein binding family A member 3 gene DOID:13938 amenorrhea ISO RGD:737449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11844168 APBA3 amyloid beta precursor protein binding family A member 3 gene DOID:630 genetic disease ISO RGD:737449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844186 LIMS1 LIM zinc finger domain containing 1 gene DOID:0111201 distal hereditary motor neuronopathy type 7A ISO RGD:1313937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A PMID:28492532 11844186 LIMS1 LIM zinc finger domain containing 1 gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1313937 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant PMID:10431241|PMID:10431242|PMID:18854857|PMID:20979233|PMID:28492532|PMID:28981473 11844186 LIMS1 LIM zinc finger domain containing 1 gene DOID:630 genetic disease ISO RGD:1313937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844186 LIMS1 LIM zinc finger domain containing 1 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1313937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:28492532 11844195 CSNK1A1L casein kinase 1 alpha 1 like gene DOID:630 genetic disease ISO RGD:1352235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844200 IRX1 iroquois homeobox 1 gene DOID:630 genetic disease ISO RGD:1349465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844200 IRX1 iroquois homeobox 1 gene DOID:850 lung disease ISO RGD:1349465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21238641 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:0050424 familial adenomatous polyposis ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28255344 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:737036 D RGD:9068941 20200609 RGD mRNA, protein:splice variant, increased expression:large intestine PMID:16425351|REF_RGD_ID:2289356 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:0060318 acute promyelocytic leukemia ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16208414|PMID:17349212 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:737036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis PMID:24886237 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:10283 prostate cancer disease_progression ISO RGD:737036 D RGD:9068941 20211126 RGD DNA:hypermethylation:prostate gland PMID:17998819|REF_RGD_ID:2289346 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:1059 intellectual disability ISO RGD:737036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:11054 urinary bladder cancer ISO RGD:737036 D RGD:9068941 20200609 RGD PMID:16321281|REF_RGD_ID:2289357 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:12306 vitiligo ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:13580 cholestasis ISO RGD:2307 D RGD:9068941 20200609 RGD protein:decreased expression:jejunum, ileum PMID:16804311|REF_RGD_ID:2289372 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:1793 pancreatic cancer ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17446842 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:2154 nephroblastoma ISO RGD:737036 D RGD:9068941 20200609 RGD PMID:12131349|REF_RGD_ID:2289361 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:2377 multiple sclerosis ISO RGD:737036 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:2671 transitional cell carcinoma ISO RGD:737036 D RGD:9068941 20200609 RGD mRNA:splice variants:kidney pelvis, ureter PMID:10022688|REF_RGD_ID:2289363 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:2773 contact dermatitis ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:2986 IgA glomerulonephritis ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:3007 breast ductal carcinoma disease_progression ISO RGD:737036 D RGD:9068941 20200609 RGD mRNA, protein:splice variant, increased expression:breast PMID:16425351|REF_RGD_ID:2289356 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:737036 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17059779|REF_RGD_ID:2289352 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:3021 acute kidney failure ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23052191 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:3457 invasive lobular carcinoma ISO RGD:737036 D RGD:9068941 20200609 RGD mRNA, protein:splice variants, altered localization:breast PMID:11245336|REF_RGD_ID:2289362 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:37 skin disease ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:737036 D RGD:9068941 20200609 RGD mRNA, protein:splice variant, increased expression:stomach PMID:16425351|REF_RGD_ID:2289356 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:3883 Lynch syndrome ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28255344 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:3910 lung adenocarcinoma ISO RGD:737036 D RGD:9068941 20200609 RGD mRNA:splice variants:lung PMID:18091389|REF_RGD_ID:2289345 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:737036 D RGD:9068941 20210723 RGD mRNA:increased expression:lung (human) PMID:29537891|REF_RGD_ID:149735539 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:737036 D RGD:9068941 20200609 RGD PMID:12833185|REF_RGD_ID:2289360 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:4450 renal cell carcinoma severity ISO RGD:737036 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17284111|REF_RGD_ID:2289351 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:5138 leiomyomatosis ISO RGD:737036 D RGD:9068941 20200609 RGD PMID:15762960|REF_RGD_ID:2296043 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:5154 borna disease ISO RGD:2307 D RGD:9068941 20200609 RGD PMID:16612977|REF_RGD_ID:2289373 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:585 nephrolithiasis ISO RGD:737036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Calcium oxalate urolithiasis PMID:24886237 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:630 genetic disease ISO RGD:737036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:769 neuroblastoma ISO RGD:737036 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:9000081 Lymphatic Metastasis ISO RGD:737036 D RGD:9068941 20200609 RGD associated with Breast Neoplasms, Colorectal Neoplasms, Stomach Neoplasms;mRNA, protein:splice variant, increased expression:breast, large intestine, stomach PMID:16425351|REF_RGD_ID:2289356 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:9000217 Stomach Neoplasms ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21471434 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:9000918 Disease Progression ISO RGD:737036 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:9000965 Neoplasm Metastasis ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23098472 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:9000965 Neoplasm Metastasis ISO RGD:737036 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell;protein:increased expression:kidney PMID:18026989|REF_RGD_ID:2289347 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:9002315 Kidney Calculi ISO RGD:2307 D RGD:9068941 20200609 RGD PMID:16850024|REF_RGD_ID:2289370 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:9002457 Experimental Arthritis ISO RGD:2307 D RGD:9068941 20200609 RGD protein:increased expression:joint, macrophage, lymphocyte PMID:8639178|REF_RGD_ID:2289388 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:9002762 Ovarian Neoplasms ISO RGD:737036 D RGD:9068941 20200609 RGD mRNA:splice variants:ovary PMID:18091389|REF_RGD_ID:2289345 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:9002955 Nerve Degeneration ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15191797 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737036 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix PMID:16998464|REF_RGD_ID:2289353 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:737036 D RGD:9068941 20200609 RGD mRNA:splice variants:uterine cervix PMID:17464868|REF_RGD_ID:2289350 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:9003936 Cardiomegaly ISO RGD:2307 D RGD:9068941 20200609 RGD protein:increased expression:coronary artery PMID:18196276|REF_RGD_ID:2289364 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:9004009 Reperfusion Injury ISO RGD:2307 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:16786159|REF_RGD_ID:2289354 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:9004009 Reperfusion Injury ISO RGD:2307 D RGD:9068941 20200609 RGD protein:increased expression:testis, macrophage PMID:16891795|REF_RGD_ID:2289369 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21283680 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:9006618 Liver Metastasis ISO RGD:737036 D RGD:9068941 20200609 RGD associated with Breast Neoplasm;protein:increased expression:liver PMID:17991717|REF_RGD_ID:2289349 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:9006796 Gastrointestinal Neoplasms ISO RGD:737036 D RGD:9068941 20200609 RGD mRNA:splice variants:gastrointestinal system PMID:18091389|REF_RGD_ID:2289345 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:9007096 Stroke ISO RGD:2307 D RGD:9068941 20200609 RGD PMID:16837837|REF_RGD_ID:2289371 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:9007715 Endometrial Neoplasms ISO RGD:737036 D RGD:9068941 20200609 RGD mRNA, protein:splice variant, increased expression:endometrium PMID:16308159|REF_RGD_ID:2289358 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:737036 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium PMID:14658589|REF_RGD_ID:2296044 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:9007964 Arsenic Poisoning ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:9008939 Breast Neoplasms ISO RGD:737036 D RGD:9068941 20200609 RGD mRNA:splice variants:breast PMID:18091389|REF_RGD_ID:2289345 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:9119 acute myeloid leukemia ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23098472 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:9498 pulmonary eosinophilia ISO RGD:10310 D RGD:9068941 20200609 RGD PMID:12750406|REF_RGD_ID:4145437 11844212 CD44 CD44 molecule (Indian blood group) gene DOID:9597 Krukenberg carcinoma ISO RGD:737036 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:16124061|REF_RGD_ID:2289359 11844247 BACE2 beta-secretase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1350115 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:gyrus: PMID:22074738|REF_RGD_ID:13782172 11844247 BACE2 beta-secretase 2 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1350115 D RGD:9068941 20200609 RGD DNA:SNP,haplotype:exon: PMID:16023140|REF_RGD_ID:13782180 11844247 BACE2 beta-secretase 2 gene DOID:12849 autistic disorder ISO RGD:1350115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11844247 BACE2 beta-secretase 2 gene DOID:630 genetic disease ISO RGD:1350115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844247 BACE2 beta-secretase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11844247 BACE2 beta-secretase 2 gene DOID:9255 frontotemporal dementia ISO RGD:1350115 D RGD:9068941 20200609 RGD mRNA,protein, activity:increased expression, increased activity:gyrus: PMID:22074738|REF_RGD_ID:13782172 11844247 BACE2 beta-secretase 2 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:1551409 D RGD:9068941 20200609 RGD PMID:28337562|REF_RGD_ID:13782177 11844261 SEPTIN3 septin 3 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:736597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11844261 SEPTIN3 septin 3 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:736597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 11844261 SEPTIN3 septin 3 gene DOID:1059 intellectual disability ISO RGD:736597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11844261 SEPTIN3 septin 3 gene DOID:630 genetic disease ISO RGD:736597 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844278 TUT4 terminal uridylyl transferase 4 gene DOID:1612 breast cancer severity ISO RGD:1320865 D RGD:9068941 20200609 RGD in conjunction with E2f1 expression;mRNA:increased expression:breast (human PMID:21453498|REF_RGD_ID:11530014 11844278 TUT4 terminal uridylyl transferase 4 gene DOID:630 genetic disease ISO RGD:1320865 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844278 TUT4 terminal uridylyl transferase 4 gene DOID:916 liver benign neoplasm ISO RGD:1320865 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:24056962|REF_RGD_ID:11530012 11844329 CCDC69 coiled-coil domain containing 69 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603313 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11844329 CCDC69 coiled-coil domain containing 69 gene DOID:630 genetic disease ISO RGD:1603313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844329 CCDC69 coiled-coil domain containing 69 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603313 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11844342 GMNC geminin coiled-coil domain containing gene DOID:5419 schizophrenia ISO RGD:5455041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11844342 GMNC geminin coiled-coil domain containing gene DOID:630 genetic disease ISO RGD:5455041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844351 EXOSC2 exosome component 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1315266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11844351 EXOSC2 exosome component 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1315266 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11844351 EXOSC2 exosome component 2 gene DOID:0081175 short stature, hearing loss, retinitis pigmentosa, and distinctive facies ISO RGD:1315266 D RGD:7240710 20190315 OMIM 11844351 EXOSC2 exosome component 2 gene DOID:0081175 short stature, hearing loss, retinitis pigmentosa, and distinctive facies ISO RGD:1315266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES | ClinVar Annotator: match by term: Short stature, hearing loss, retinitis pigmentosa, and distinctive facies PMID:14647208|PMID:15060126|PMID:24447024|PMID:25741868|PMID:26843489|PMID:28492532|PMID:31628467|PMID:34162742 11844351 EXOSC2 exosome component 2 gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1315266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 11844351 EXOSC2 exosome component 2 gene DOID:630 genetic disease ISO RGD:1315266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11844351 EXOSC2 exosome component 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1315266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11844351 EXOSC2 exosome component 2 gene DOID:9273 citrullinemia ISO RGD:1315266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Citrullinemia PMID:28492532 11844397 LOC103785466 stereocilin gene DOID:0110471 autosomal recessive nonsyndromic deafness 16 ISO RGD:1623848 D RGD:9068941 20230506 MouseDO OMIM:603720 11844457 MMP26 matrix metallopeptidase 26 gene DOID:0080773 delta beta-thalassemia ISO RGD:1347422 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11844457 MMP26 matrix metallopeptidase 26 gene DOID:2661 myoepithelioma ISO RGD:1347422 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11844457 MMP26 matrix metallopeptidase 26 gene DOID:37 skin disease ISO RGD:1347422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16984259 11844457 MMP26 matrix metallopeptidase 26 gene DOID:630 genetic disease ISO RGD:1347422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844457 MMP26 matrix metallopeptidase 26 gene DOID:9003281 Spontaneous Abortions ISO RGD:1347422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11844467 ARID2 AT-rich interaction domain 2 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1322383 D RGD:9068941 20210903 RGD PMID:31918270|REF_RGD_ID:150340710 11844467 ARID2 AT-rich interaction domain 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1322383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11844467 ARID2 AT-rich interaction domain 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1322383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma 11844467 ARID2 AT-rich interaction domain 2 gene DOID:0080297 Coffin-Siris syndrome 6 ISO RGD:1322383 D RGD:7240710 20190315 OMIM 11844467 ARID2 AT-rich interaction domain 2 gene DOID:0080297 Coffin-Siris syndrome 6 ISO RGD:1322383 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 6 PMID:24728327|PMID:25741868|PMID:26238514|PMID:28124119|PMID:28492532|PMID:28884947|PMID:30838730 11844467 ARID2 AT-rich interaction domain 2 gene DOID:0111152 multicentric Castleman disease ISO RGD:1322383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TAFRO syndrome 11844467 ARID2 AT-rich interaction domain 2 gene DOID:10534 stomach cancer onset ISO RGD:1322383 D RGD:9068941 20210430 RGD protein:decreased expression:stomach (human) PMID:26637902|REF_RGD_ID:126848744 11844467 ARID2 AT-rich interaction domain 2 gene DOID:1059 intellectual disability ISO RGD:1322383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11844467 ARID2 AT-rich interaction domain 2 gene DOID:10907 microcephaly ISO RGD:1322383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24728327|PMID:25741868|PMID:28492532 11844467 ARID2 AT-rich interaction domain 2 gene DOID:1324 lung cancer ISO RGD:1322383 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 11844467 ARID2 AT-rich interaction domain 2 gene DOID:630 genetic disease ISO RGD:1322383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24728327|PMID:25741868|PMID:28492532 11844467 ARID2 AT-rich interaction domain 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1322383 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 11844467 ARID2 AT-rich interaction domain 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1322383 D RGD:9068941 20210910 RGD PMID:25701229|PMID:32071245|REF_RGD_ID:150340708|REF_RGD_ID:150429631 11844467 ARID2 AT-rich interaction domain 2 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1322383 D RGD:9068941 20210903 RGD PMID:27351279|REF_RGD_ID:150340711 11844467 ARID2 AT-rich interaction domain 2 gene DOID:9000351 Diarrhea 9 ISO RGD:1322383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic diarrhea PMID:25741868 11844467 ARID2 AT-rich interaction domain 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11844467 ARID2 AT-rich interaction domain 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11844467 ARID2 AT-rich interaction domain 2 gene DOID:9008582 Developmental Disease ISO RGD:1322383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11844467 ARID2 AT-rich interaction domain 2 gene DOID:9009121 lung metastasis exacerbates ISO RGD:1322383 D RGD:9068941 20210903 RGD associated with hepatocellular carcinoma, PMID:32071245|REF_RGD_ID:150340708 11844467 ARID2 AT-rich interaction domain 2 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1322383 D RGD:9068941 20210910 RGD PMID:33262464|REF_RGD_ID:150429650 11844493 TMEM216 transmembrane protein 216 gene DOID:0050777 Joubert syndrome ISO RGD:1602714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:17576681|PMID:18414213|PMID:20036350|PMID:20301500|PMID:20512146|PMID:21068128|PMID:22282472|PMID:23351400|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26673778|PMID:28492532|PMID:28497568|PMID:9536098 11844493 TMEM216 transmembrane protein 216 gene DOID:0050778 Meckel syndrome ISO RGD:1602714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:28492532 11844493 TMEM216 transmembrane protein 216 gene DOID:0070116 Meckel syndrome 2 ISO RGD:1602714 D RGD:7240710 20180130 OMIM 11844493 TMEM216 transmembrane protein 216 gene DOID:0070116 Meckel syndrome 2 ISO RGD:1602714 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 2 PMID:16199547|PMID:18414213|PMID:20036350|PMID:20301500|PMID:20512146|PMID:21068128|PMID:22282472|PMID:23351400|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26673778|PMID:28492532|PMID:28497568 11844493 TMEM216 transmembrane protein 216 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11844493 TMEM216 transmembrane protein 216 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1602714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:18414213|PMID:20036350|PMID:20301500|PMID:20512146|PMID:21068128|PMID:22282472|PMID:23351400|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26673778|PMID:28492532|PMID:28497568 11844493 TMEM216 transmembrane protein 216 gene DOID:0110988 Joubert Syndrome 2 ISO RGD:1602714 D RGD:7240710 20180130 OMIM 11844493 TMEM216 transmembrane protein 216 gene DOID:0110988 Joubert Syndrome 2 ISO RGD:1602714 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cerebellooculorenal syndrome 2 | ClinVar Annotator: match by term: Joubert syndrome 2 PMID:16199547|PMID:18414213|PMID:20036350|PMID:20301500|PMID:20512146|PMID:21068128|PMID:22282472|PMID:23351400|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26673778|PMID:28492532|PMID:28497568 11844493 TMEM216 transmembrane protein 216 gene DOID:1059 intellectual disability ISO RGD:1602714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11844493 TMEM216 transmembrane protein 216 gene DOID:630 genetic disease ISO RGD:1602714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20036350|PMID:20301500|PMID:20512146|PMID:22282472|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26673778|PMID:28492532 11844493 TMEM216 transmembrane protein 216 gene DOID:9006534 Nervous System Malformations ISO RGD:1602714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:20036350|PMID:20512146|PMID:25741868|PMID:26092869|PMID:26673778|PMID:28492532 11844514 GXYLT1 glucoside xylosyltransferase 1 gene DOID:13938 amenorrhea ISO RGD:1606923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11844514 GXYLT1 glucoside xylosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1606923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844525 HSPB9 heat shock protein family B (small) member 9 gene DOID:630 genetic disease ISO RGD:1319285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844525 HSPB9 heat shock protein family B (small) member 9 gene DOID:9008086 Developmental Disabilities ISO RGD:1319285 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31546644 11844530 CBX1 chromobox 1 gene DOID:10283 prostate cancer ISO RGD:1321782 D RGD:9068941 20200609 RGD protein:increased expression:prostate: PMID:18436254|REF_RGD_ID:9586744 11844530 CBX1 chromobox 1 gene DOID:630 genetic disease ISO RGD:1321782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844530 CBX1 chromobox 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 11844542 EGLN3 egl-9 family hypoxia inducible factor 3 gene DOID:3021 acute kidney failure ISO RGD:71019 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:19349364|REF_RGD_ID:11252083 11844542 EGLN3 egl-9 family hypoxia inducible factor 3 gene DOID:4450 renal cell carcinoma ISO RGD:732652 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20676679|REF_RGD_ID:13506732 11844542 EGLN3 egl-9 family hypoxia inducible factor 3 gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:732652 D RGD:9068941 20200609 RGD PMID:23788753|REF_RGD_ID:13506731 11844542 EGLN3 egl-9 family hypoxia inducible factor 3 gene DOID:5844 myocardial infarction ISO RGD:71019 D RGD:9068941 20200609 RGD PMID:16765982|REF_RGD_ID:11252084 11844542 EGLN3 egl-9 family hypoxia inducible factor 3 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:732652 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11844542 EGLN3 egl-9 family hypoxia inducible factor 3 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:71019 D RGD:9068941 20200609 RGD PMID:16761101|REF_RGD_ID:11252085 11844542 EGLN3 egl-9 family hypoxia inducible factor 3 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:71019 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:19349364|REF_RGD_ID:11252083 11844542 EGLN3 egl-9 family hypoxia inducible factor 3 gene DOID:9007188 Liver Neoplasms ISO RGD:732652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 11844579 ACVR1 activin A receptor type 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1344480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11844579 ACVR1 activin A receptor type 1 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:734161 D RGD:9068941 20230427 RGD PMID:22536403|REF_RGD_ID:329337340 11844579 ACVR1 activin A receptor type 1 gene DOID:1070 primary open angle glaucoma ISO RGD:1344480 D RGD:9068941 20230427 RGD DNA:SNP:3'utr: (rs12997) PMID:33443061|REF_RGD_ID:329328928 11844579 ACVR1 activin A receptor type 1 gene DOID:13374 fibrodysplasia ossificans progressiva ISO RGD:1344480 D RGD:7240710 20190508 OMIM 11844579 ACVR1 activin A receptor type 1 gene DOID:13374 fibrodysplasia ossificans progressiva ISO RGD:1344480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive myositis ossificans PMID:10441661|PMID:16642017|PMID:17077940|PMID:17272450|PMID:17351709|PMID:17576681|PMID:18203193|PMID:18684712|PMID:18830232|PMID:18952055|PMID:19085907|PMID:19330033|PMID:21044902|PMID:21377447|PMID:21525719|PMID:21567927|PMID:22351757|PMID:22508565|PMID:22977237|PMID:23302548|PMID:23653868|PMID:24051199|PMID:24259422|PMID:24705251|PMID:25326637|PMID:25741868|PMID:26058333|PMID:26619011|PMID:28492532|PMID:29482508|PMID:30379592|PMID:35511419|PMID:5033743|PMID:7068725|PMID:818090|PMID:9536098 11844579 ACVR1 activin A receptor type 1 gene DOID:1657 ventricular septal defect ISO RGD:734161 D RGD:9068941 20230427 RGD PMID:22536403|REF_RGD_ID:329337340 11844579 ACVR1 activin A receptor type 1 gene DOID:1682 congenital heart disease ISO RGD:734161 D RGD:9068941 20230427 RGD PMID:24680892|REF_RGD_ID:329328929 11844579 ACVR1 activin A receptor type 1 gene DOID:1793 pancreatic cancer ISO RGD:1344480 D RGD:9068941 20200609 RGD PMID:9714055|REF_RGD_ID:2317217 11844579 ACVR1 activin A receptor type 1 gene DOID:3069 malignant astrocytoma ISO RGD:1344480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24705250 11844579 ACVR1 activin A receptor type 1 gene DOID:3070 high grade glioma ISO RGD:1344480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brainstem glioma PMID:19085907|PMID:19330033|PMID:22977237|PMID:24705250|PMID:24705254|PMID:25326637|PMID:25741868|PMID:26619011|PMID:31779674|PMID:7068725|PMID:818090 11844579 ACVR1 activin A receptor type 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:1344480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:25326637|PMID:26619011 11844579 ACVR1 activin A receptor type 1 gene DOID:630 genetic disease ISO RGD:1344480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16642017|PMID:17077940|PMID:17272450|PMID:17351709|PMID:18684712|PMID:18830232|PMID:19085907|PMID:19330033|PMID:21525719|PMID:22351757|PMID:22508565|PMID:22977237|PMID:23302548|PMID:23653868|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29482508|PMID:30379592|PMID:35511419|PMID:5033743|PMID:7068725|PMID:818090 11844579 ACVR1 activin A receptor type 1 gene DOID:668 myositis ossificans ISO RGD:1344480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11844579 ACVR1 activin A receptor type 1 gene DOID:83 cataract ISO RGD:734161 D RGD:9068941 20230429 RGD PMID:21504908|REF_RGD_ID:8547757 11844579 ACVR1 activin A receptor type 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:620200 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:kidney PMID:11675415|REF_RGD_ID:2313802 11844579 ACVR1 activin A receptor type 1 gene DOID:9004059 Eye Neoplasms ISO RGD:734161 D RGD:9068941 20230429 RGD PMID:21504908|REF_RGD_ID:8547757 11844579 ACVR1 activin A receptor type 1 gene DOID:9004158 diffuse intrinsic pontine glioma ISO RGD:1344480 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma PMID:24705250|PMID:24705254|PMID:26619011|PMID:31779674 11844579 ACVR1 activin A receptor type 1 gene DOID:9004610 Acute Lung Injury ISO RGD:1344480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297076 11844579 ACVR1 activin A receptor type 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1344480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23180569 11844594 DCAF5 DDB1 and CUL4 associated factor 5 gene DOID:630 genetic disease ISO RGD:1315207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844631 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:0050534 congenital stationary night blindness ISO RGD:1344610 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:19878917|REF_RGD_ID:7175555 11844631 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:0111708 focal nonepidermolytic palmoplantar keratoderma ISO RGD:1344610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated focal non-epidermolytic palmoplantar keratoderma PMID:21285946|PMID:24452206|PMID:25285920|PMID:25741868|PMID:28492532|PMID:28587736 11844631 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:0111711 focal nonepidermolytic palmoplantar keratoderma 2 ISO RGD:1344610 D RGD:7240710 20180130 OMIM 11844631 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques ISO RGD:1344610 D RGD:7240710 20200826 OMIM 11844631 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques ISO RGD:1344610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Olmsted syndrome 1 PMID:22405088|PMID:24452206|PMID:25741868|PMID:27273692|PMID:28492532|PMID:28587736 11844631 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:10024 migraine with aura ISO RGD:1344610 D RGD:9068941 20200609 RGD DNA:snp:intron:g.36670T>C rs7217270 (human) PMID:22162417|REF_RGD_ID:7175557 11844631 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:224 transient cerebral ischemia ISO RGD:1557695 D RGD:9068941 20200609 RGD PMID:22284622|REF_RGD_ID:7175554 11844631 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:2723 dermatitis ISO RGD:1564531 D RGD:9068941 20211029 RGD DNA:missense mutation:cds:G1717T (rat) PMID:16858425|REF_RGD_ID:150520053 11844631 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:3310 atopic dermatitis ISO RGD:1557695 D RGD:9068941 20220825 MouseDO OMIM:603165 11844631 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:3613 Canavan disease ISO RGD:1344610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 11844631 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:5419 schizophrenia ISO RGD:1344610 D RGD:9068941 20200609 RGD DNA:snps:intron:g.109277T>C, g.110078T>C (rs10162727, rs1035706) (human) PMID:21970977|REF_RGD_ID:7175558 11844631 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:630 genetic disease ISO RGD:1344610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10909858|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 11844631 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:8881 rosacea ISO RGD:1344610 D RGD:9068941 20200609 RGD Erythematotelangiectatic Rosacea, Phymatous Rosacea; protein:increased expression:dermis (human) PMID:22189789|REF_RGD_ID:7175556 11844631 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:9002221 Hyperplasia ISO RGD:1344610 D RGD:9068941 20210709 CTD CTD Direct Evidence: therapeutic PMID:32535744 11844631 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:9002714 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type ISO RGD:1344610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE PMID:10909858|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 11844631 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:9007952 Cystinosis, Ocular Nonnephropathic ISO RGD:1344610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic PMID:10909858|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 11844631 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:9256 colorectal cancer ISO RGD:1344610 D RGD:9068941 20200609 RGD DNA:snp:exon:c.558A>C rs11078458 (human) PMID:20042636|REF_RGD_ID:7183081 11844631 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:987 alopecia ISO RGD:1564531 D RGD:9068941 20211029 RGD DNA:missense mutation:cds:G1717T (rat) PMID:16858425|REF_RGD_ID:150520053 11844659 LOC100970784 zinc finger protein 805 gene DOID:630 genetic disease ISO RGD:1604434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844681 VGF VGF nerve growth factor inducible gene DOID:10808 gastric ulcer ISO RGD:69439 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20805684 11844681 VGF VGF nerve growth factor inducible gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11844681 VGF VGF nerve growth factor inducible gene DOID:630 genetic disease ISO RGD:69439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844681 VGF VGF nerve growth factor inducible gene DOID:9002916 Hyperphagia ISO RGD:69439 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12177191 11844681 VGF VGF nerve growth factor inducible gene DOID:9008533 Plasminogen Activator Inhibitor-1 Deficiency ISO RGD:69439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY PMID:21681106 11844681 VGF VGF nerve growth factor inducible gene DOID:9970 obesity ISO RGD:69439 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12177191 11844690 VSX2 visual system homeobox 2 gene DOID:0060835 isolated microphthalmia 6 ISO RGD:1348218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MICROPHTHALMIA, POSTERIOR NONSYNDROMIC 11844690 VSX2 visual system homeobox 2 gene DOID:0060839 isolated microphthalmia 2 ISO RGD:1348218 D RGD:7240710 20190315 OMIM 11844690 VSX2 visual system homeobox 2 gene DOID:0060839 isolated microphthalmia 2 ISO RGD:1348218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 2 PMID:10932181|PMID:11341888|PMID:15257456|PMID:16199547|PMID:17661825|PMID:20414678|PMID:21976963|PMID:23028343|PMID:24033328|PMID:25741868|PMID:26893459|PMID:26995144|PMID:27013732|PMID:28121235|PMID:28492532|PMID:30181649|PMID:3378363 11844690 VSX2 visual system homeobox 2 gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1348218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 11844690 VSX2 visual system homeobox 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1348218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:21976963|PMID:24033328|PMID:26893459|PMID:28492532|PMID:30181649 11844690 VSX2 visual system homeobox 2 gene DOID:10584 retinitis pigmentosa ISO RGD:1348218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 11844690 VSX2 visual system homeobox 2 gene DOID:1059 intellectual disability ISO RGD:1348218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11844690 VSX2 visual system homeobox 2 gene DOID:10629 microphthalmia ISO RGD:1348218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microphthalmia | ClinVar Annotator: match by term: Microphthalmos PMID:15257456|PMID:20414678|PMID:21976963|PMID:23028343|PMID:24033328|PMID:25741868|PMID:26893459|PMID:28492532|PMID:30181649 11844690 VSX2 visual system homeobox 2 gene DOID:1432 blindness susceptibility ISO RGD:1348218 D RGD:9068941 20200609 RGD microphthalmia, OMIM:251600;DNA:missense mutations: :p.R200Q , p.R200P PMID:10932181|REF_RGD_ID:734779 11844690 VSX2 visual system homeobox 2 gene DOID:630 genetic disease ISO RGD:1348218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11844690 VSX2 visual system homeobox 2 gene DOID:9003342 Microphthalmia, Cataracts, and Iris Abnormalities ISO RGD:1348218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia, cataracts, and iris abnormalities PMID:10932181|PMID:11341888|PMID:17661825|PMID:23028343|PMID:25741868|PMID:27013732|PMID:28492532 11844690 VSX2 visual system homeobox 2 gene DOID:9005041 Isolated Microphthalmia with Coloboma 3 ISO RGD:1348218 D RGD:7240710 20190315 OMIM 11844690 VSX2 visual system homeobox 2 gene DOID:9005041 Isolated Microphthalmia with Coloboma 3 ISO RGD:1348218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 3 PMID:11341888|PMID:15257456|PMID:16199547|PMID:17661825|PMID:20414678|PMID:21976963|PMID:23028343|PMID:25606400|PMID:25741868|PMID:28121235|PMID:28492532 11844697 KLHL21 kelch like family member 21 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1351698 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11844697 KLHL21 kelch like family member 21 gene DOID:3070 high grade glioma ISO RGD:1351698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11844697 KLHL21 kelch like family member 21 gene DOID:630 genetic disease ISO RGD:1351698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844697 KLHL21 kelch like family member 21 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11844708 FAF1 Fas associated factor 1 gene DOID:3948 adrenocortical carcinoma ISO RGD:733981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 11844708 FAF1 Fas associated factor 1 gene DOID:630 genetic disease ISO RGD:733981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844729 METTL25 methyltransferase like 25 gene DOID:630 genetic disease ISO RGD:1602087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844745 KSR1 kinase suppressor of ras 1 gene DOID:1612 breast cancer disease_progression ISO RGD:1317686 D RGD:9068941 20210604 RGD PMID:24909178|REF_RGD_ID:127229932 11844745 KSR1 kinase suppressor of ras 1 gene DOID:3458 breast adenocarcinoma severity ISO RGD:1317686 D RGD:9068941 20210604 RGD PMID:24909178|REF_RGD_ID:127229932 11844745 KSR1 kinase suppressor of ras 1 gene DOID:630 genetic disease ISO RGD:1317686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844774 HOXC8 homeobox C8 gene DOID:630 genetic disease ISO RGD:1353627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844774 HOXC8 homeobox C8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11844780 BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 gene DOID:0111097 Fanconi anemia complementation group J ISO RGD:1315693 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group J PMID:25741868 11844780 BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 gene DOID:2223 platelet storage pool deficiency ISO RGD:1315694 D RGD:9068941 20220825 MouseDO OMIM:185050 11844780 BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1315693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:32565547 11844780 BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 gene DOID:630 genetic disease ISO RGD:1315693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844780 BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 gene DOID:9001110 Hermansky-Pudlak Syndrome 11 ISO RGD:1315693 D RGD:7240710 20210203 OMIM 11844780 BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 gene DOID:9001110 Hermansky-Pudlak Syndrome 11 ISO RGD:1315693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 11 PMID:32565547 11844794 MGP matrix Gla protein gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:737291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 11844794 MGP matrix Gla protein gene DOID:0080332 bicuspid aortic valve disease ISO RGD:737291 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:19350115 11844794 MGP matrix Gla protein gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:737291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 11844794 MGP matrix Gla protein gene DOID:10286 prostate carcinoma ISO RGD:737291 D RGD:9068941 20200609 RGD mRNA:increased expression:primary tumor; mRNA:decreased expression:metastatic tissue:decreased or absent expression in metastases and cell lines from metastatic tumors PMID:1399132|REF_RGD_ID:2293578 11844794 MGP matrix Gla protein gene DOID:182 calcinosis ISO RGD:737291 D RGD:9068941 20200609 RGD PMID:15045141|REF_RGD_ID:1582501 11844794 MGP matrix Gla protein gene DOID:2349 arteriosclerosis ISO RGD:737291 D RGD:9068941 20200609 RGD PMID:8200973|REF_RGD_ID:1582504 11844794 MGP matrix Gla protein gene DOID:305 carcinoma ISO RGD:737291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 11844794 MGP matrix Gla protein gene DOID:3304 germinoma ISO RGD:737291 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor PMID:1399132|REF_RGD_ID:2293578 11844794 MGP matrix Gla protein gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:737291 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:inversely related to tumor size (0.02510x increase over normal tissue and 87% showed >100x increase PMID:11358798|REF_RGD_ID:2293586 11844794 MGP matrix Gla protein gene DOID:9002991 Keutel Syndrome ISO RGD:737291 D RGD:7240710 20180130 OMIM 11844794 MGP matrix Gla protein gene DOID:9002991 Keutel Syndrome ISO RGD:737291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keutel syndrome PMID:15810001|PMID:25741868|PMID:28492532|PMID:9916809 11844794 MGP matrix Gla protein gene DOID:9003281 Spontaneous Abortions ISO RGD:737291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11844794 MGP matrix Gla protein gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737291 D RGD:9068941 20200609 RGD protein:increased expression:tumor, adjacent dysplastic cervical epithelium:7/8 (88%) cervical squamous cell carcinomas PMID:17960611|REF_RGD_ID:2293584 11844794 MGP matrix Gla protein gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 11844794 MGP matrix Gla protein gene DOID:9006332 Vascular Calcification ISO RGD:737291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21705322 11844806 UGT2A3 UDP glucuronosyltransferase family 2 member A3 gene DOID:0060041 autism spectrum disorder ISO RGD:1605934 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11844806 UGT2A3 UDP glucuronosyltransferase family 2 member A3 gene DOID:630 genetic disease ISO RGD:1605934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844806 UGT2A3 UDP glucuronosyltransferase family 2 member A3 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1605934 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11844819 PPP2R3A protein phosphatase 2 regulatory subunit B''alpha gene DOID:0060224 atrial fibrillation ISO RGD:1315869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11844819 PPP2R3A protein phosphatase 2 regulatory subunit B''alpha gene DOID:630 genetic disease ISO RGD:1315869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844819 PPP2R3A protein phosphatase 2 regulatory subunit B''alpha gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1315869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 11844846 DCAF16 DDB1 and CUL4 associated factor 16 gene DOID:630 genetic disease ISO RGD:1603212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844860 PAXX PAXX non-homologous end joining factor gene DOID:0050777 Joubert syndrome ISO RGD:1606404 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11844860 PAXX PAXX non-homologous end joining factor gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1606404 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11844860 PAXX PAXX non-homologous end joining factor gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1606404 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11844860 PAXX PAXX non-homologous end joining factor gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1606404 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11844860 PAXX PAXX non-homologous end joining factor gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1606404 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11844860 PAXX PAXX non-homologous end joining factor gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1606404 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11844860 PAXX PAXX non-homologous end joining factor gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1606404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 11844860 PAXX PAXX non-homologous end joining factor gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1606404 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11844860 PAXX PAXX non-homologous end joining factor gene DOID:0081097 Rafiq syndrome ISO RGD:1606404 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11844860 PAXX PAXX non-homologous end joining factor gene DOID:1826 epilepsy ISO RGD:1606404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11844860 PAXX PAXX non-homologous end joining factor gene DOID:3652 Leigh disease ISO RGD:1606404 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11844860 PAXX PAXX non-homologous end joining factor gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1606404 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11844882 CLPS colipase gene DOID:0050553 JMP syndrome ISO RGD:731525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11844882 CLPS colipase gene DOID:630 genetic disease ISO RGD:731525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844882 CLPS colipase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2363 D RGD:9068941 20200609 RGD PMID:19577003|REF_RGD_ID:2314624 11844882 CLPS colipase gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:731525 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.R109C (human) PMID:16189801|REF_RGD_ID:2314627 11844893 ZNF391 zinc finger protein 391 gene DOID:630 genetic disease ISO RGD:1606101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844903 FBXL15 F-box and leucine rich repeat protein 15 gene DOID:630 genetic disease ISO RGD:1315065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844918 SCG3 secretogranin III gene DOID:0080445 developmental and epileptic encephalopathy 13 ISO RGD:732003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 11844918 SCG3 secretogranin III gene DOID:2717 Bloom syndrome ISO RGD:732003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11844918 SCG3 secretogranin III gene DOID:5419 schizophrenia ISO RGD:732003 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11844918 SCG3 secretogranin III gene DOID:607 paraplegia ISO RGD:732003 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 11844918 SCG3 secretogranin III gene DOID:630 genetic disease ISO RGD:732003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844918 SCG3 secretogranin III gene DOID:9256 colorectal cancer ISO RGD:732003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11844934 LHX8 LIM homeobox 8 gene DOID:630 genetic disease ISO RGD:1606630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844951 RNF166 ring finger protein 166 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1351592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 11844951 RNF166 ring finger protein 166 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1351592 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11844951 RNF166 ring finger protein 166 gene DOID:14780 KBG syndrome ISO RGD:1351592 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 11844951 RNF166 ring finger protein 166 gene DOID:630 genetic disease ISO RGD:1351592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844951 RNF166 ring finger protein 166 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1351592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 11844961 DECR2 2,4-dienoyl-CoA reductase 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:735964 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11844961 DECR2 2,4-dienoyl-CoA reductase 2 gene DOID:1826 epilepsy ISO RGD:735964 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 11844961 DECR2 2,4-dienoyl-CoA reductase 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:735964 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11844961 DECR2 2,4-dienoyl-CoA reductase 2 gene DOID:630 genetic disease ISO RGD:735964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844973 EFNA1 ephrin A1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:730990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11844973 EFNA1 ephrin A1 gene DOID:0111940 immunodeficiency 42 ISO RGD:730990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11844973 EFNA1 ephrin A1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:730990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11844973 EFNA1 ephrin A1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:730990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11844973 EFNA1 ephrin A1 gene DOID:1540 parathyroid carcinoma ISO RGD:730990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11844973 EFNA1 ephrin A1 gene DOID:5812 MHC class II deficiency ISO RGD:730990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11844973 EFNA1 ephrin A1 gene DOID:630 genetic disease ISO RGD:730990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844973 EFNA1 ephrin A1 gene DOID:9008939 Breast Neoplasms ISO RGD:730990 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20154726 11844973 EFNA1 ephrin A1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11844995 BORCS5 BLOC-1 related complex subunit 5 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1316927 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs3803098) A>G (human) PMID:27354594|REF_RGD_ID:152177496 11844995 BORCS5 BLOC-1 related complex subunit 5 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1316927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 11844995 BORCS5 BLOC-1 related complex subunit 5 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1316927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 11844995 BORCS5 BLOC-1 related complex subunit 5 gene DOID:630 genetic disease ISO RGD:1316927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11844995 BORCS5 BLOC-1 related complex subunit 5 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1316927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of 11845011 SERPINB13 serpin family B member 13 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1312230 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11845011 SERPINB13 serpin family B member 13 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1312230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 11845011 SERPINB13 serpin family B member 13 gene DOID:10283 prostate cancer ISO RGD:1312230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11845011 SERPINB13 serpin family B member 13 gene DOID:630 genetic disease ISO RGD:1312230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845027 EIF2S3 eukaryotic translation initiation factor 2 subunit gamma gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11845027 EIF2S3 eukaryotic translation initiation factor 2 subunit gamma gene DOID:0060801 MEHMO syndrome ISO RGD:1346365 D RGD:7240710 20190315 OMIM 11845027 EIF2S3 eukaryotic translation initiation factor 2 subunit gamma gene DOID:0060801 MEHMO syndrome ISO RGD:1346365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MEHMO syndrome PMID:23063529|PMID:25741868|PMID:25741869|PMID:27333055|PMID:28055140 11845027 EIF2S3 eukaryotic translation initiation factor 2 subunit gamma gene DOID:12849 autistic disorder ISO RGD:1346365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11845027 EIF2S3 eukaryotic translation initiation factor 2 subunit gamma gene DOID:630 genetic disease ISO RGD:1346365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845027 EIF2S3 eukaryotic translation initiation factor 2 subunit gamma gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11845044 BPIFA3 BPI fold containing family A member 3 gene DOID:630 genetic disease ISO RGD:1347929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845126 MTMR7 myotubularin related protein 7 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1315320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 11845126 MTMR7 myotubularin related protein 7 gene DOID:630 genetic disease ISO RGD:1315320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845126 MTMR7 myotubularin related protein 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11845153 TEX11 testis expressed 11 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11845153 TEX11 testis expressed 11 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1347600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25970010|PMID:28132688 11845153 TEX11 testis expressed 11 gene DOID:0070185 X-linked spermatogenic failure 2 ISO RGD:1347600 D RGD:7240710 20180130 OMIM 11845153 TEX11 testis expressed 11 gene DOID:0070185 X-linked spermatogenic failure 2 ISO RGD:1347600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 2 PMID:25970010|PMID:28492532 11845153 TEX11 testis expressed 11 gene DOID:1059 intellectual disability ISO RGD:1347600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31690835 11845153 TEX11 testis expressed 11 gene DOID:12849 autistic disorder ISO RGD:1347600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11845153 TEX11 testis expressed 11 gene DOID:630 genetic disease ISO RGD:1347600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845153 TEX11 testis expressed 11 gene DOID:9007898 FG Syndrome 1 ISO RGD:1347600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 11845189 NPC1L1 NPC1 like intracellular cholesterol transporter 1 gene DOID:2349 arteriosclerosis ISO RGD:1615659 D RGD:9068941 20200609 RGD PMID:17218600|REF_RGD_ID:1642183 11845189 NPC1L1 NPC1 like intracellular cholesterol transporter 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11845189 NPC1L1 NPC1 like intracellular cholesterol transporter 1 gene DOID:630 genetic disease ISO RGD:1345181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845189 NPC1L1 NPC1 like intracellular cholesterol transporter 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:1615659 D RGD:9068941 20200609 RGD PMID:15671032|REF_RGD_ID:1642184 11845189 NPC1L1 NPC1 like intracellular cholesterol transporter 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1303135 D RGD:9068941 20200609 RGD mRNA:increased expression:intestine, liver PMID:17292734|REF_RGD_ID:1642185 11845217 ARHGAP24 Rho GTPase activating protein 24 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1315415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 11845217 ARHGAP24 Rho GTPase activating protein 24 gene DOID:1184 nephrotic syndrome ISO RGD:1315415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 11845217 ARHGAP24 Rho GTPase activating protein 24 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1315415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 11845217 ARHGAP24 Rho GTPase activating protein 24 gene DOID:630 genetic disease ISO RGD:1315415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11845246 ITGB7 integrin subunit beta 7 gene DOID:630 genetic disease ISO RGD:1343409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845272 UEVLD UEV and lactate/malate dehyrogenase domains gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1605360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 11845272 UEVLD UEV and lactate/malate dehyrogenase domains gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1605360 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 11845272 UEVLD UEV and lactate/malate dehyrogenase domains gene DOID:1059 intellectual disability ISO RGD:1605360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11845272 UEVLD UEV and lactate/malate dehyrogenase domains gene DOID:630 genetic disease ISO RGD:1605360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845295 CALHM1 calcium homeostasis modulator 1 gene DOID:11054 urinary bladder cancer ISO RGD:1603161 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 11845295 CALHM1 calcium homeostasis modulator 1 gene DOID:630 genetic disease ISO RGD:1603161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845303 LOC100967527 AGBL carboxypeptidase 4 gene DOID:0060224 atrial fibrillation ISO RGD:1606202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11845303 LOC100967527 AGBL carboxypeptidase 4 gene DOID:10283 prostate cancer ISO RGD:1606202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11845303 LOC100967527 AGBL carboxypeptidase 4 gene DOID:303 substance-related disorder ISO RGD:1606202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11845303 LOC100967527 AGBL carboxypeptidase 4 gene DOID:630 genetic disease ISO RGD:1606202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845303 LOC100967527 AGBL carboxypeptidase 4 gene DOID:9008582 Developmental Disease ISO RGD:1606202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder 11845320 ARK2N arkadia (RNF111) N-terminal like PKA signaling regulator 2N gene DOID:0060356 Vici syndrome ISO RGD:1318467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 11845320 ARK2N arkadia (RNF111) N-terminal like PKA signaling regulator 2N gene DOID:1059 intellectual disability ISO RGD:1318467 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11845320 ARK2N arkadia (RNF111) N-terminal like PKA signaling regulator 2N gene DOID:630 genetic disease ISO RGD:1318467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845320 ARK2N arkadia (RNF111) N-terminal like PKA signaling regulator 2N gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1318467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 11845335 FST follistatin gene DOID:0050567 orofacial cleft ISO RGD:734008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofacial cleft PMID:31215115 11845335 FST follistatin gene DOID:0060762 restrictive dermopathy ISO RGD:10603 D RGD:9068941 20220825 MouseDO OMIM:275210 11845335 FST follistatin gene DOID:11162 respiratory failure ISO RGD:10603 D RGD:9068941 20200609 RGD PMID:7885475|REF_RGD_ID:737711 11845335 FST follistatin gene DOID:11612 polycystic ovary syndrome ISO RGD:734008 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:10411917|REF_RGD_ID:1601259 11845335 FST follistatin gene DOID:630 genetic disease ISO RGD:734008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845335 FST follistatin gene DOID:684 hepatocellular carcinoma ISO RGD:734008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12203361|PMID:19363144 11845335 FST follistatin gene DOID:767 muscular atrophy ISO RGD:734008 D RGD:9068941 20210709 CTD CTD Direct Evidence: therapeutic PMID:33034787 11845335 FST follistatin gene DOID:9000217 Stomach Neoplasms ISO RGD:734008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11845335 FST follistatin gene DOID:9001981 Weight Loss ISO RGD:734008 D RGD:9068941 20210709 CTD CTD Direct Evidence: therapeutic PMID:33034787 11845335 FST follistatin gene DOID:9003281 Spontaneous Abortions ISO RGD:734008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11845335 FST follistatin gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2633 D RGD:9068941 20230427 RGD mRNA:decreased expression:brain (rat) PMID:10415398|REF_RGD_ID:329322882 11845335 FST follistatin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11845335 FST follistatin gene DOID:9004590 Acute Liver Failure ISO RGD:734008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12560755 11845335 FST follistatin gene DOID:9007188 Liver Neoplasms ISO RGD:734008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12203361 11845335 FST follistatin gene DOID:9008939 Breast Neoplasms ISO RGD:734008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 11845343 POLR2B RNA polymerase II subunit B gene DOID:630 genetic disease ISO RGD:1319837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845343 POLR2B RNA polymerase II subunit B gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1319837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 11845376 WDR33 WD repeat domain 33 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1319455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 11845376 WDR33 WD repeat domain 33 gene DOID:630 genetic disease ISO RGD:1319455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845406 RSPO1 R-spondin 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11845406 RSPO1 R-spondin 1 gene DOID:4001 ovarian carcinoma ISO RGD:1603515 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:25581431 11845406 RSPO1 R-spondin 1 gene DOID:630 genetic disease ISO RGD:1603515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845406 RSPO1 R-spondin 1 gene DOID:9001360 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal ISO RGD:1603515 D RGD:7240710 20180130 OMIM 11845406 RSPO1 R-spondin 1 gene DOID:9001360 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal ISO RGD:1603515 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal PMID:16158431|PMID:17041600|PMID:25741868|PMID:28492532 11845406 RSPO1 R-spondin 1 gene DOID:9004267 Palmoplantar Hyperkeratosis and True Hermaphroditism ISO RGD:1603515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Palmoplantar hyperkeratosis and true hermaphroditism PMID:18085567 11845454 MED20 mediator complex subunit 20 gene DOID:0050444 infantile Refsum disease ISO RGD:1606323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11845454 MED20 mediator complex subunit 20 gene DOID:630 genetic disease ISO RGD:1606323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845454 MED20 mediator complex subunit 20 gene DOID:905 Zellweger syndrome ISO RGD:1606323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11845462 SDHAF1 succinate dehydrogenase complex assembly factor 1 gene DOID:0060537 mitochondrial complex II deficiency ISO RGD:2307455 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Succinate CoQ reductase deficiency PMID:25741868|PMID:26642834|PMID:26749241|PMID:28492532|PMID:33162331 11845462 SDHAF1 succinate dehydrogenase complex assembly factor 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:2307455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11845462 SDHAF1 succinate dehydrogenase complex assembly factor 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:2307455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11845462 SDHAF1 succinate dehydrogenase complex assembly factor 1 gene DOID:630 genetic disease ISO RGD:2307455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11845462 SDHAF1 succinate dehydrogenase complex assembly factor 1 gene DOID:8725 vascular dementia ISO RGD:2307455 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19465911 11845462 SDHAF1 succinate dehydrogenase complex assembly factor 1 gene DOID:9003055 Mitochondrial Complex II Deficiency Nuclear Type 1 ISO RGD:2307455 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 PMID:25741868|PMID:26642834|PMID:26749241|PMID:28492532|PMID:33162331 11845462 SDHAF1 succinate dehydrogenase complex assembly factor 1 gene DOID:9008405 Mitochondrial Complex II Deficiency Nuclear Type 2 ISO RGD:2307455 D RGD:7240710 20210203 OMIM 11845462 SDHAF1 succinate dehydrogenase complex assembly factor 1 gene DOID:9008405 Mitochondrial Complex II Deficiency Nuclear Type 2 ISO RGD:2307455 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2 PMID:12112045|PMID:16737791|PMID:19465911|PMID:22995659|PMID:25741868|PMID:26642834|PMID:26749241|PMID:28492532|PMID:31130284|PMID:33162331 11845479 DENND2D DENN domain containing 2D gene DOID:12849 autistic disorder ISO RGD:1602459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11845479 DENND2D DENN domain containing 2D gene DOID:630 genetic disease ISO RGD:1602459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845498 ATP6V0E2 ATPase H+ transporting V0 subunit e2 gene DOID:630 genetic disease ISO RGD:1606137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845506 GPR50 G protein-coupled receptor 50 gene DOID:0050760 X-linked myopathy with excessive autophagy ISO RGD:1346636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 11845506 GPR50 G protein-coupled receptor 50 gene DOID:0060041 autism spectrum disorder ISO RGD:1346636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20657642 11845506 GPR50 G protein-coupled receptor 50 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11845506 GPR50 G protein-coupled receptor 50 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:1346636 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 11845506 GPR50 G protein-coupled receptor 50 gene DOID:12849 autistic disorder ISO RGD:1346636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11845506 GPR50 G protein-coupled receptor 50 gene DOID:630 genetic disease ISO RGD:1346636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845515 DNAI3 dynein axonemal intermediate chain 3 gene DOID:630 genetic disease ISO RGD:1605003 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845515 DNAI3 dynein axonemal intermediate chain 3 gene DOID:9000983 Encephalocele ISO RGD:1605003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Occipital encephalocele PMID:29285825 11845543 CEP104 centrosomal protein 104 gene DOID:0050753 cerebellar ataxia ISO RGD:1605416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:32581362 11845543 CEP104 centrosomal protein 104 gene DOID:0050777 Joubert syndrome ISO RGD:1605416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders 11845543 CEP104 centrosomal protein 104 gene DOID:0050777 Joubert syndrome ISO RGD:1605416 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:26477546|PMID:28492532|PMID:35372954 11845543 CEP104 centrosomal protein 104 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1605416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11845543 CEP104 centrosomal protein 104 gene DOID:0060041 autism spectrum disorder ISO RGD:1605416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11845543 CEP104 centrosomal protein 104 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1605416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11845543 CEP104 centrosomal protein 104 gene DOID:0081236 autosomal recessive intellectual developmental disorder 77 ISO RGD:1605416 D RGD:7240710 20220831 OMIM 11845543 CEP104 centrosomal protein 104 gene DOID:0081236 autosomal recessive intellectual developmental disorder 77 ISO RGD:1605416 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 77 PMID:34196201|PMID:35359234 11845543 CEP104 centrosomal protein 104 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1605416 D RGD:7240710 20190315 OMIM 11845543 CEP104 centrosomal protein 104 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1605416 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:17576681|PMID:19492091|PMID:21031596|PMID:25741868|PMID:26477546|PMID:28492532|PMID:31674007|PMID:35372954|PMID:9536098|PMID:9683594 11845543 CEP104 centrosomal protein 104 gene DOID:0111934 immunodeficiency 38 ISO RGD:1605416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11845543 CEP104 centrosomal protein 104 gene DOID:0111935 immunodeficiency 16 ISO RGD:1605416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11845543 CEP104 centrosomal protein 104 gene DOID:630 genetic disease ISO RGD:1605416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11845543 CEP104 centrosomal protein 104 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11845543 CEP104 centrosomal protein 104 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1605416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:0040085 bacterial sepsis ameliorates ISO RGD:1309467 D RGD:9068941 20210611 RGD associated with bacterial pneumonia PMID:16960786|REF_RGD_ID:127229902 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:0040085 bacterial sepsis exacerbates ISO RGD:1319824 D RGD:9068941 20210528 RGD PMID:17230441|REF_RGD_ID:126928125 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:0040085 bacterial sepsis treatment ISO RGD:1319823 D RGD:9068941 20210528 RGD PMID:21507332|REF_RGD_ID:126925982 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:0050211 swine influenza severity ISO RGD:1319824 D RGD:9068941 20210528 RGD PMID:24453980|REF_RGD_ID:126925972 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1319823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:0050697 chorioamnionitis ISO RGD:1319823 D RGD:9068941 20210604 RGD associated with Premature Obstetric Labor;protein:increased expression:amniotic fluid: PMID:19591072|REF_RGD_ID:127229904 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:0060180 colitis severity ISO RGD:1319824 D RGD:9068941 20210528 RGD PMID:24453980|REF_RGD_ID:126925972 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:1002 endometritis ameliorates ISO RGD:1319824 D RGD:9068941 20210611 RGD PMID:31365951|REF_RGD_ID:126928127 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:12365 malaria severity ISO RGD:1319823 D RGD:9068941 20210507 RGD PMID:27671831|REF_RGD_ID:126848795 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:13252 mesenteric vascular occlusion ameliorates ISO RGD:1309467 D RGD:9068941 20210611 RGD PMID:18091551|REF_RGD_ID:127284848 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:13272 Klebsiella pneumonia disease_progression ISO RGD:1319824 D RGD:9068941 20210528 RGD PMID:24396044|REF_RGD_ID:126925976 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:14115 toxic shock syndrome ISO RGD:1319823 D RGD:9068941 20210507 RGD mRNA:decreased expression:polymorphonuclear leukocyte PMID:24465168|REF_RGD_ID:126848796 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:1596 depressive disorder treatment ISO RGD:1309467 D RGD:9068941 20210611 RGD PMID:32009956|REF_RGD_ID:127284856 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:1883 hepatitis C ISO RGD:1319823 D RGD:9068941 20210528 RGD protein:increased expression:plasma PMID:27328755|REF_RGD_ID:126925974 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:1884 viral hepatitis disease_progression ISO RGD:1319824 D RGD:9068941 20210528 RGD PMID:27328755|REF_RGD_ID:126925974 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:2043 hepatitis B ISO RGD:1319823 D RGD:9068941 20210528 RGD protein:increased expression:plasma PMID:27328755|REF_RGD_ID:126925974 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:2913 acute pancreatitis ameliorates ISO RGD:1309467 D RGD:9068941 20210611 RGD PMID:19787284|REF_RGD_ID:127284839 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:2913 acute pancreatitis severity ISO RGD:1319824 D RGD:9068941 20210528 RGD PMID:26250893|REF_RGD_ID:11522077 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:2957 pulmonary tuberculosis disease_progression ISO RGD:1319823 D RGD:9068941 20210528 RGD PMID:29844416|REF_RGD_ID:126925977 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:1309467 D RGD:9068941 20210611 RGD PMID:32736673|REF_RGD_ID:127284860 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:3798 pleural empyema treatment ISO RGD:1309467 D RGD:9068941 20210611 RGD PMID:20819512|REF_RGD_ID:127284851 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:4033 bacterial gastritis ISO RGD:1319823 D RGD:9068941 20210528 RGD mRNA,protein:increased expression:gastric epithelium PMID:18321350|REF_RGD_ID:126928123 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:409 liver disease ISO RGD:1319823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12651611 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:5052 melioidosis ISO RGD:1319824 D RGD:9068941 20210528 RGD PMID:18008257|REF_RGD_ID:126928120 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:5052 melioidosis severity ISO RGD:1319823 D RGD:9068941 20210528 RGD PMID:18008257|REF_RGD_ID:126928120 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:5052 melioidosis treatment ISO RGD:1319824 D RGD:9068941 20210528 RGD PMID:18008257|REF_RGD_ID:126928120 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1319823 D RGD:9068941 20210528 RGD mRNA,protein:increased expression:peripheral blood mononuclear cell, macrophage, plasma PMID:31260499|REF_RGD_ID:126925971 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:5844 myocardial infarction ameliorates ISO RGD:1309467 D RGD:9068941 20210611 RGD PMID:25840803|REF_RGD_ID:127284842 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:5844 myocardial infarction ameliorates ISO RGD:1319824 D RGD:9068941 20210611 RGD PMID:25840803|REF_RGD_ID:127284842 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:5844 myocardial infarction disease_progression ISO RGD:1319823 D RGD:9068941 20210611 RGD PMID:25840803|REF_RGD_ID:127284842 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:6000 congestive heart failure treatment ISO RGD:1309467 D RGD:9068941 20210604 RGD PMID:33495812|REF_RGD_ID:127229929 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:630 genetic disease ISO RGD:1319823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:7148 rheumatoid arthritis treatment ISO RGD:1309467 D RGD:9068941 20210604 RGD PMID:27049384|REF_RGD_ID:127229930 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:824 periodontitis ISO RGD:1309467 D RGD:9068941 20210611 RGD mRNA,protein:increased expression:periodontium PMID:29972971|REF_RGD_ID:127284858 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:874 bacterial pneumonia ameliorates ISO RGD:1309467 D RGD:9068941 20210611 RGD PMID:16960786|REF_RGD_ID:127229902 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:874 bacterial pneumonia severity ISO RGD:1319823 D RGD:9068941 20210528 RGD PMID:22996209|PMID:24465168|REF_RGD_ID:126848796|REF_RGD_ID:126925987 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9000438 Subarachnoid Hemorrhage severity ISO RGD:1319823 D RGD:9068941 20210611 RGD PMID:33727099|REF_RGD_ID:127284864 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:1309467 D RGD:9068941 20210611 RGD PMID:30910643|REF_RGD_ID:127284863 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9001708 Hemorrhagic Shock ameliorates ISO RGD:1309467 D RGD:9068941 20210611 RGD PMID:19333144|REF_RGD_ID:127284838 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1319824 D RGD:9068941 20210528 RGD PMID:24752755|REF_RGD_ID:126928121 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9002106 Pneumococcal Pneumonia ameliorates ISO RGD:1319824 D RGD:9068941 20210604 RGD PMID:19596984|REF_RGD_ID:127229903 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1319823 D RGD:9068941 20210604 RGD protein:increased expression:kidney interstitium PMID:30478987|REF_RGD_ID:127229931 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:1309467 D RGD:9068941 20210611 RGD PMID:29331667|PMID:30478987|REF_RGD_ID:127229931|REF_RGD_ID:127284861 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9002224 Rotator Cuff Injuries ISO RGD:1309467 D RGD:9068941 20210611 RGD protein:increased expression:tendon: PMID:29891998|REF_RGD_ID:127284862 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9002668 Liver Abscess severity ISO RGD:1319824 D RGD:9068941 20210528 RGD associated with Klebsiella pneumonia PMID:24396044|REF_RGD_ID:126925976 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9002869 Schistosomiasis Mansoni ISO RGD:1319824 D RGD:9068941 20210528 RGD PMID:21332515|REF_RGD_ID:126925988 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9004055 Fungal Keratitis ISO RGD:1319823 D RGD:9068941 20210528 RGD mRNA:increased expression:cornea PMID:26963514|REF_RGD_ID:11526921 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9004055 Fungal Keratitis ISO RGD:1319824 D RGD:9068941 20210528 RGD mRNA:increased expression:cornea PMID:26963514|REF_RGD_ID:11526921 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9004055 Fungal Keratitis treatment ISO RGD:1319824 D RGD:9068941 20210528 RGD PMID:26963514|REF_RGD_ID:11526921 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9004484 Sepsis ISO RGD:1319823 D RGD:9068941 20210528 RGD mRNA:decreased expression:polymorph nuclear cell: PMID:22996209|REF_RGD_ID:126925987 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9004484 Sepsis disease_progression ISO RGD:1319823 D RGD:9068941 20210528 RGD PMID:22809118|REF_RGD_ID:126925981 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9004484 Sepsis treatment ISO RGD:1309467 D RGD:9068941 20210611 RGD PMID:22147417|REF_RGD_ID:127284847 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9004610 Acute Lung Injury ameliorates ISO RGD:1309467 D RGD:9068941 20210611 RGD PMID:26832696|REF_RGD_ID:127284840 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9004610 Acute Lung Injury exacerbates ISO RGD:1309467 D RGD:9068941 20210611 RGD PMID:26832696|REF_RGD_ID:127284840 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9005930 Endotoxemia ISO RGD:1319823 D RGD:9068941 20210528 RGD PMID:15585833|REF_RGD_ID:126928122 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9005930 Endotoxemia treatment ISO RGD:1319824 D RGD:9068941 20210528 RGD PMID:21507332|REF_RGD_ID:126925982 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:1309467 D RGD:9068941 20210611 RGD mRNA:increased expression:sciatic nerve,peripheral blood mononuclar cell PMID:28260057|REF_RGD_ID:127284841 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9006647 Experimental Autoimmune Neuritis ameliorates ISO RGD:1309467 D RGD:9068941 20210611 RGD PMID:28260057|REF_RGD_ID:127284841 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9007755 Intestinal Reperfusion Injury ameliorates ISO RGD:1309467 D RGD:9068941 20210611 RGD associated with mesenteric vascular occlusion; PMID:18091551|REF_RGD_ID:127284848 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9008067 Toxemia ameliorates ISO RGD:1319824 D RGD:9068941 20210611 RGD PMID:17230441|REF_RGD_ID:126928125 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:905 Zellweger syndrome ISO RGD:1319823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9065 leishmaniasis severity ISO RGD:1319824 D RGD:9068941 20210528 RGD PMID:24453980|REF_RGD_ID:126925972 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9120 amyloidosis ISO RGD:1319823 D RGD:9068941 20210604 RGD associated with familial Mediterranean fever;protein:increased expression:serum: PMID:31474164|REF_RGD_ID:127229901 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9415 allergic asthma ISO RGD:1319824 D RGD:9068941 20210528 RGD PMID:21592044|REF_RGD_ID:126928124 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9415 allergic asthma exacerbates ISO RGD:1319824 D RGD:9068941 20210528 RGD PMID:21592044|REF_RGD_ID:126928124 11845577 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9470 bacterial meningitis disease_progression ISO RGD:1319823 D RGD:9068941 20210528 RGD PMID:16786330|REF_RGD_ID:126928126 11845585 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:735595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:28492532 11845585 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:735595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type PMID:23020937|PMID:23934111|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26582918|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:34356170 11845585 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:0060041 autism spectrum disorder ISO RGD:735595 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11845585 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:0081118 benign familial infantile seizures 5 ISO RGD:735595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5 PMID:23020937|PMID:23934111|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26582918|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:34356170 11845585 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:10283 prostate cancer ISO RGD:735595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11845585 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:1059 intellectual disability ISO RGD:735595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18625963|PMID:19344764|PMID:19464834|PMID:21703448|PMID:22612257|PMID:23020937|PMID:23596459|PMID:23934111|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26582918|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:34356170 11845585 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:1059 intellectual disability ISO RGD:735595 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18354422|PMID:18625963|PMID:19344764|PMID:19464834|PMID:21687499|PMID:21703448|PMID:22612257|PMID:23020937|PMID:23596459|PMID:23934111|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26582918|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:34356170 11845585 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:11832 visual epilepsy ISO RGD:735595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:16235065|PMID:17765802|PMID:18625963|PMID:19344764|PMID:19464834|PMID:21703448|PMID:22612257|PMID:23596459|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611|PMID:29383681|PMID:29852413|PMID:31440727 11845585 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:12849 autistic disorder ISO RGD:735595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:23020937|PMID:23934111|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26582918|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:34356170 11845585 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:14264 benign neonatal seizures ISO RGD:735595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Benign Neonatal Epilepsy | ClinVar Annotator: match by term: Benign neonatal seizures PMID:14534157|PMID:16199547|PMID:16235065|PMID:16883520|PMID:17576681|PMID:17765802|PMID:18249525|PMID:18354422|PMID:18625963|PMID:19344764|PMID:19464834|PMID:20437616|PMID:21687499|PMID:21703448|PMID:22612257|PMID:23020937|PMID:23146207|PMID:23360469|PMID:23596459|PMID:23934111|PMID:24375629|PMID:25052858|PMID:25278462|PMID:25524373|PMID:25640679|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26467025|PMID:26582918|PMID:27888506|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29358611|PMID:29383681|PMID:29655203|PMID:29778030|PMID:29808309|PMID:29852413|PMID:30348901|PMID:30578330|PMID:31177578|PMID:31238879|PMID:31440727|PMID:31785789|PMID:32086284|PMID:32613771|PMID:33004838|PMID:34356170|PMID:9425900|PMID:9536098 11845585 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:735595 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign familial neonatal seizures PMID:18625963|PMID:23020937|PMID:23934111|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26467025|PMID:26582918|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29358611|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:34356170 11845585 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:1826 epilepsy ISO RGD:735595 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:28492532 11845585 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:1826 epilepsy ISO RGD:735595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532|PMID:29383681|PMID:29852413|PMID:31440727 11845585 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:735595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:18625963|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 11845585 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:630 genetic disease ISO RGD:735595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14534157|PMID:16235065|PMID:17576681|PMID:17765802|PMID:18354422|PMID:18625963|PMID:19167866|PMID:19344764|PMID:19464834|PMID:20437616|PMID:21687499|PMID:21703448|PMID:22612257|PMID:23020937|PMID:23360469|PMID:23596459|PMID:23934111|PMID:24375629|PMID:25194482|PMID:25740509|PMID:25741868|PMID:26467025|PMID:28135719|PMID:28492532|PMID:29358611|PMID:29778030|PMID:29808309|PMID:30348901|PMID:30578330|PMID:32086284|PMID:33004838|PMID:9536098 11845585 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:9002211 Hyperalgesia ISO RGD:69222 D RGD:9068941 20200609 RGD associated with Bone Neoplasms;protein:decreased expression:dorsal root ganglia (rat) PMID:23352759|REF_RGD_ID:9686417 11845585 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:9003109 Benign Familial Neonatal Seizures, 2 ISO RGD:735595 D RGD:7240710 20180130 OMIM 11845585 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:9003109 Benign Familial Neonatal Seizures, 2 ISO RGD:735595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant form of benign neonatal seizures | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 2 PMID:10852552|PMID:14534157|PMID:16235065|PMID:16883520|PMID:17576681|PMID:17765802|PMID:18249525|PMID:18354422|PMID:18425618|PMID:1859177|PMID:18625963|PMID:19167866|PMID:19344764|PMID:19464834|PMID:20437616|PMID:21687499|PMID:21703448|PMID:22612257|PMID:23020937|PMID:23146207|PMID:23360469|PMID:23596459|PMID:23934111|PMID:24375629|PMID:25052858|PMID:25278462|PMID:25524373|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26467025|PMID:26582918|PMID:27888506|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29358611|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:31785789|PMID:32086284|PMID:33004838|PMID:34356170|PMID:9425900|PMID:9536098 11845585 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:9008582 Developmental Disease ISO RGD:735595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11845604 TMEM79 transmembrane protein 79 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1601945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11845604 TMEM79 transmembrane protein 79 gene DOID:0111940 immunodeficiency 42 ISO RGD:1601945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11845604 TMEM79 transmembrane protein 79 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1601945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11845604 TMEM79 transmembrane protein 79 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1601945 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11845604 TMEM79 transmembrane protein 79 gene DOID:1540 parathyroid carcinoma ISO RGD:1601945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11845604 TMEM79 transmembrane protein 79 gene DOID:3310 atopic dermatitis ISO RGD:1332023 D RGD:9068941 20220825 MouseDO OMIM:603165 11845604 TMEM79 transmembrane protein 79 gene DOID:5812 MHC class II deficiency ISO RGD:1601945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11845604 TMEM79 transmembrane protein 79 gene DOID:630 genetic disease ISO RGD:1601945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845604 TMEM79 transmembrane protein 79 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11845618 THEM4 thioesterase superfamily member 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1603281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11845618 THEM4 thioesterase superfamily member 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11845618 THEM4 thioesterase superfamily member 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11845618 THEM4 thioesterase superfamily member 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1603281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11845618 THEM4 thioesterase superfamily member 4 gene DOID:5812 MHC class II deficiency ISO RGD:1603281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11845618 THEM4 thioesterase superfamily member 4 gene DOID:630 genetic disease ISO RGD:1603281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845618 THEM4 thioesterase superfamily member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1603281 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23392203 11845618 THEM4 thioesterase superfamily member 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11845628 LMNA lamin A/C gene DOID:0014667 disease of metabolism ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metabolic disease 11845628 LMNA lamin A/C gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:22224630|PMID:22266370|PMID:22464770|PMID:23183350|PMID:23853504|PMID:24033266|PMID:24503780|PMID:24846508|PMID:25741868|PMID:27532257|PMID:27585670|PMID:27723096|PMID:27884249|PMID:28492532|PMID:29149195|PMID:29237675|PMID:30165862|PMID:30402260|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:31303467|PMID:31447099|PMID:31829210|PMID:34363016 11845628 LMNA lamin A/C gene DOID:0050440 familial partial lipodystrophy ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial partial lipodystrophy | ClinVar Annotator: match by term: Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules | ClinVar Annotator: match by term: Lipodystrophy, reverse partial PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12467734|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12669268|PMID:12702809|PMID:12784312|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16809772|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18606848|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20497714|PMID:20625965|PMID:20848652|PMID:20980393|PMID:21346069|PMID:21479595|PMID:21520333|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22918509|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:25025039|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25351510|PMID:25367549|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25819867|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26084686|PMID:26165385|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26392352|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27100822|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29040816|PMID:29078011|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32475984|PMID:32685188|PMID:32727917 11845628 LMNA lamin A/C gene DOID:0050440 familial partial lipodystrophy ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial partial lipodystrophy | ClinVar Annotator: match by term: Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules | ClinVar Annotator: match by term: Lipodystrophy, reverse partial PMID:32746448|PMID:32818388|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33916827|PMID:33963534|PMID:34768595|PMID:34862408|PMID:34999423|PMID:35449878|PMID:35535697|PMID:9500556|PMID:9536098 11845628 LMNA lamin A/C gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mason type diabetes PMID:11102973|PMID:29237675|PMID:29952368|PMID:32818388|PMID:33407844 11845628 LMNA lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11015599|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11792811|PMID:11799477|PMID:11897440|PMID:11901143|PMID:11973618|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12486434|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12716787|PMID:12729796|PMID:12768443|PMID:12783988|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:13129702|PMID:14569138|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15184648|PMID:15219508|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15832002|PMID:15919811|PMID:15961312|PMID:15965218|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16008174|PMID:16061563|PMID:16084085|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16186497|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16891232|PMID:16965317|PMID:16990647|PMID:17076270|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17469202|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17612587|PMID:17711925|PMID:17848409|PMID:17987279|PMID:18031308|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18182166|PMID:18348272|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18480576|PMID:1849984|PMID:18502446|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19095983|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19328042|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:20041886|PMID:2007407|PMID:20074070|PMID:20092787|PMID:20127487|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20307303|PMID:20376791|PMID:20472316|PMID:20497714|PMID:20498703|PMID:20576434|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20709679|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21315846|PMID:21346069|PMID:21462202|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21653823|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21922471|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22090424|PMID:22103509|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22491857|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2270059|PMID:22700598|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23029315|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23243001|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23666920|PMID:23701190|PMID:23702046 11845628 LMNA lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23912926|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24349489|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24687084|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25327215|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25567453|PMID:25572245|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26323789|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26567375|PMID:26573435|PMID:26602028|PMID:26620845|PMID:26662654|PMID:26724531|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27034135|PMID:27034136|PMID:27066507|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27234031|PMID:27235420|PMID:27363342|PMID:27373676|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27534416|PMID:27585670|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27673727|PMID:27707468|PMID:27708273|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28152038|PMID:28166811|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28403181|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29047356|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29211919|PMID:29237675|PMID:29237690|PMID:29250285|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29770364|PMID:29791652|PMID:29845577|PMID:29893365|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30078822|PMID:30083363|PMID:30107846|PMID:30123186|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30954027|PMID:31019283|PMID:31293201|PMID:31296869|PMID:31303467|PMID:31317183|PMID:31378009|PMID:31383942|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31847799|PMID:32004434|PMID:32155092|PMID:32160020|PMID:32456328|PMID:32571898|PMID:32954377|PMID:33673806|PMID:34008892|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9536098 11845628 LMNA lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11015599|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11792811|PMID:11799477|PMID:11897440|PMID:11901143|PMID:11973618|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12716787|PMID:12729796|PMID:12768443|PMID:12783988|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:13129702|PMID:14569138|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15184648|PMID:15219508|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15832002|PMID:15919811|PMID:15961312|PMID:15965218|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16008174|PMID:16061563|PMID:16084085|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16186497|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16891232|PMID:16965317|PMID:16990647|PMID:17076270|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17612587|PMID:17711925|PMID:17848409|PMID:17893350|PMID:17987279|PMID:18031308|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18182166|PMID:18348272|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18480576|PMID:1849984|PMID:18502446|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19095983|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19328042|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:20041886|PMID:2007407|PMID:20074070|PMID:20092787|PMID:20127487|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20307303|PMID:20376791|PMID:20472316|PMID:20497714|PMID:20498703|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20709679|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21251803|PMID:21315846|PMID:21346069|PMID:21462202|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21653823|PMID:21738662|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21922471|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22090424|PMID:22103509|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22491857|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2270059|PMID:22700598|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23029315|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23243001|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510 11845628 LMNA lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23666920|PMID:23701190|PMID:23702046|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23912926|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24349489|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24687084|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25327215|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25572245|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26323789|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26567375|PMID:26573435|PMID:26602028|PMID:26620845|PMID:26662654|PMID:26670336|PMID:26724531|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27034135|PMID:27034136|PMID:27066507|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27234031|PMID:27235420|PMID:27363342|PMID:27373676|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27534416|PMID:27585670|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27673727|PMID:27707468|PMID:27708273|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28152038|PMID:28166811|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28403181|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29047356|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29211919|PMID:29237675|PMID:29237690|PMID:29250285|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29770364|PMID:29791652|PMID:29845577|PMID:29893365|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30078822|PMID:30083363|PMID:30107846|PMID:30123186|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31293201|PMID:31296869|PMID:31303467|PMID:31317183|PMID:31378009|PMID:31383942|PMID:31447099|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31847799|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32456328|PMID:32571898|PMID:32880476|PMID:32943904|PMID:32954377|PMID:33673806|PMID:34008892|PMID:34213952|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9536098 11845628 LMNA lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24169522|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27034136|PMID:27066507|PMID:27153395|PMID:27182706|PMID:27220833|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28152038|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29845577|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30078822|PMID:30107846|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31296869|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31498906|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32456328|PMID:32571898|PMID:32746448|PMID:32793522|PMID:32880476|PMID:32943904|PMID:32954377|PMID:33258288|PMID:33673806|PMID:34008892|PMID:34213952|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9536098 11845628 LMNA lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24169522|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27034136|PMID:27066507|PMID:27153395|PMID:27182706|PMID:27220833|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28152038|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29845577|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30078822|PMID:30107846|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31296869|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31498906|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32456328|PMID:32571898|PMID:32746448|PMID:32793522|PMID:32880476|PMID:32943904|PMID:32954377|PMID:33258288|PMID:33673806|PMID:34008892|PMID:34213952|PMID:35535697|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9536098 11845628 LMNA lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11015599|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11792811|PMID:11799477|PMID:11897440|PMID:11901143|PMID:11973618|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12729796|PMID:12768443|PMID:12783988|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14569138|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15184648|PMID:15219508|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15476822|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15832002|PMID:15843404|PMID:15866440|PMID:15919811|PMID:15961312|PMID:15965218|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16008174|PMID:16061563|PMID:16084085|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16478798|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16891232|PMID:16965317|PMID:16990647|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:1737707|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17935239|PMID:17967828|PMID:17987279|PMID:18031308|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18480576|PMID:1849984|PMID:18502446|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19095983|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:20041886|PMID:2007407|PMID:20074070|PMID:20092787|PMID:20127487|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20472316|PMID:20497714|PMID:20498703|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20837309|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21251803|PMID:21315846|PMID:21346069|PMID:21462202|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21653823|PMID:21738662|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21945321|PMID:21970986|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22090424|PMID:22103509|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22491857|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22611635|PMID:22685055 11845628 LMNA lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:2270059|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23029315|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23217256|PMID:23243001|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23666920|PMID:23701190|PMID:23702046|PMID:23703017|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23912926|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24034385|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24349489|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24687084|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25001855|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25256213|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25327215|PMID:25343322|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25481314|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25572245|PMID:25617006|PMID:25637381|PMID:25640679|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25832542|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26027246|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26220970|PMID:26323789|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26567375|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26620845|PMID:26659599|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26900797|PMID:26976018|PMID:27000522|PMID:27034135|PMID:27066507|PMID:27100822|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27234031|PMID:27235420|PMID:27332903|PMID:27363342|PMID:27373676|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27461183|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27534416|PMID:27585670|PMID:27595935|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27673727|PMID:27707468|PMID:27708273|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28152038|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28403181|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:28987496|PMID:29047356|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29104234|PMID:29121657|PMID:29149195|PMID:29211919|PMID:29237675|PMID:29237690|PMID:29250285|PMID:29267953|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29770364|PMID:29791652|PMID:29845577|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30019023|PMID:30055862|PMID:30078822|PMID:30083363|PMID:30107846|PMID:30123186|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30572990|PMID:30696354|PMID:30765282 11845628 LMNA lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:30847666|PMID:30871747|PMID:30901896|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31069529|PMID:31194872|PMID:31263448|PMID:31264968|PMID:31270292|PMID:31293201|PMID:31296869|PMID:31303467|PMID:31317183|PMID:31322791|PMID:31378009|PMID:31383942|PMID:31434876|PMID:31447099|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31791368|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32458740|PMID:32475984|PMID:32528171|PMID:32548202|PMID:32571898|PMID:32666643|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32943904|PMID:32954377|PMID:33250842|PMID:33258288|PMID:33293369|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33940562|PMID:33963534|PMID:34008892|PMID:34135346|PMID:34213952|PMID:34240052|PMID:34360639|PMID:34363016|PMID:34638534|PMID:34680903|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34999423|PMID:35449878|PMID:35535697|PMID:4684700|PMID:4740717|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098 11845628 LMNA lamin A/C gene DOID:0050557 congenital muscular dystrophy ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:15770669|PMID:25741868|PMID:26467025|PMID:26900797|PMID:28492532|PMID:33293369 11845628 LMNA lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:31525256|PMID:31744510|PMID:31836692|PMID:31857427|PMID:32004434|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32456328|PMID:32746448|PMID:32793522|PMID:32880476|PMID:33258288|PMID:9536098 11845628 LMNA lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12015247|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12702809|PMID:12716787|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14684700|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15539782|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15919811|PMID:15965218|PMID:15998779|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16278265|PMID:16364671|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16584978|PMID:16585054|PMID:16809772|PMID:16825282|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17848409|PMID:17893350|PMID:18035086|PMID:18035816|PMID:18348272|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:20041886|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21179469|PMID:21315846|PMID:21520333|PMID:21535365|PMID:21818408|PMID:21831885|PMID:21846512|PMID:21883346|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22700598|PMID:2280636|PMID:22806367|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24169522|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24943589|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25823658|PMID:25873806|PMID:25982065|PMID:25988045|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27760138|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29095976|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29907918|PMID:29943882|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30019023|PMID:30137533 11845628 LMNA lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31836692|PMID:31857427|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32793522|PMID:32880476|PMID:33258288|PMID:33293369|PMID:33422685|PMID:33458588|PMID:33673806|PMID:34135346|PMID:34240052|PMID:34363016|PMID:34680903|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:9536098 11845628 LMNA lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12015247|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12702809|PMID:12716787|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14684700|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15539782|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15919811|PMID:15965218|PMID:15998779|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16278265|PMID:16364671|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16584978|PMID:16585054|PMID:16809772|PMID:16825282|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17848409|PMID:17893350|PMID:18035086|PMID:18035816|PMID:18348272|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:20041886|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21179469|PMID:21315846|PMID:21465660|PMID:21520333|PMID:21535365|PMID:21818408|PMID:21831885|PMID:21846512|PMID:21883346|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22700598|PMID:2280636|PMID:22806367|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24169522|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24943589|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25823658|PMID:25873806|PMID:25982065|PMID:25988045|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27760138|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29095976|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954 11845628 LMNA lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:30012837|PMID:30019023|PMID:30137533|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31836692|PMID:31857427|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33258288|PMID:33293369|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:34135346|PMID:34240052|PMID:34363016|PMID:34680903|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:9536098 11845628 LMNA lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12015247|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12702809|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15539782|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15919811|PMID:15965218|PMID:15998779|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16584978|PMID:16585054|PMID:16809772|PMID:16825282|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17848409|PMID:17893350|PMID:18035086|PMID:18035816|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:20041886|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21179469|PMID:21315846|PMID:21520333|PMID:21535365|PMID:21818408|PMID:21831885|PMID:21846512|PMID:21883346|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24169522|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24943589|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25823658|PMID:25873806|PMID:25982065|PMID:25988045|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27153395|PMID:27199538|PMID:27332903|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27633507|PMID:27707468|PMID:27723096|PMID:27760138|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690 11845628 LMNA lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:29382405|PMID:29386531|PMID:29432544|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30019023|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:33258288|PMID:33293369|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33963534|PMID:34135346|PMID:34240052|PMID:34360639|PMID:34363016|PMID:34680903|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:9536098 11845628 LMNA lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12015247|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12702809|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15539782|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15919811|PMID:15965218|PMID:15998779|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16584978|PMID:16585054|PMID:16809772|PMID:16825282|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:18035086|PMID:18035816|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:20041886|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21179469|PMID:21315846|PMID:21520333|PMID:21535365|PMID:21818408|PMID:21831885|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24169522|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24943589|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25823658|PMID:25873806|PMID:25982065|PMID:25988045|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27153395|PMID:27199538|PMID:27332903|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27633507|PMID:27707468|PMID:27723096|PMID:27760138|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29095976|PMID:29149195 11845628 LMNA lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:29237675|PMID:29237690|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30019023|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:33258288|PMID:33293369|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33963534|PMID:34135346|PMID:34240052|PMID:34360639|PMID:34363016|PMID:34680903|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34999423|PMID:35449878|PMID:35535697|PMID:9536098 11845628 LMNA lamin A/C gene DOID:0050820 atrioventricular block ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10580070 11845628 LMNA lamin A/C gene DOID:0050820 atrioventricular block ISO RGD:732790 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G613A (human) PMID:25469153|REF_RGD_ID:12791032 11845628 LMNA lamin A/C gene DOID:0060480 left ventricular noncompaction ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:19318026|PMID:21846512|PMID:22224630|PMID:22266370|PMID:22464770|PMID:23183350|PMID:23853504|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24846508|PMID:25163546|PMID:25741868|PMID:26404900|PMID:27532257|PMID:27585670|PMID:27723096|PMID:28492532|PMID:28663758|PMID:29149195|PMID:29237675|PMID:29970176|PMID:30165862|PMID:30528549|PMID:30847666|PMID:30871747|PMID:30919684|PMID:31303467|PMID:31383942|PMID:31476771|PMID:31744510|PMID:31829210|PMID:32041611|PMID:32826072 11845628 LMNA lamin A/C gene DOID:0060586 Noonan syndrome 8 ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 11845628 LMNA lamin A/C gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:12376891|PMID:12467752|PMID:14597414|PMID:15372542|PMID:15843404|PMID:17107595|PMID:19524666|PMID:23861362|PMID:23977161|PMID:24033266|PMID:24503780|PMID:24623722|PMID:24794538|PMID:25448463|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28531892|PMID:30420677|PMID:32041611|PMID:32376792|PMID:32793522|PMID:32880476 11845628 LMNA lamin A/C gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:12376891|PMID:12467752|PMID:14597414|PMID:15372542|PMID:15843404|PMID:17107595|PMID:19524666|PMID:23861362|PMID:23977161|PMID:24033266|PMID:24503780|PMID:24623722|PMID:24794538|PMID:25448463|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28531892|PMID:30420677|PMID:32041611|PMID:32376792|PMID:32793522|PMID:32880476 11845628 LMNA lamin A/C gene DOID:0060762 restrictive dermopathy ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fetal hypokinesia sequence due to restrictive dermopathy | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome PMID:10080180|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11503164|PMID:11792809|PMID:12524233|PMID:12629077|PMID:12647844|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14597414|PMID:14615128|PMID:14749366|PMID:15140538|PMID:15475483|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16364671|PMID:16415042|PMID:16440304|PMID:17274801|PMID:17377071|PMID:17576681|PMID:17893350|PMID:18396274|PMID:18414213|PMID:18549403|PMID:18728124|PMID:18795223|PMID:19011997|PMID:19201734|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19859838|PMID:2007407|PMID:20130076|PMID:20625965|PMID:20848652|PMID:20980393|PMID:21846512|PMID:22326558|PMID:22700598|PMID:22918509|PMID:23183350|PMID:23313286|PMID:23328570|PMID:2338570|PMID:23427149|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24033266|PMID:24055113|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:25163546|PMID:25214167|PMID:25637381|PMID:25741868|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26392352|PMID:26404900|PMID:26467025|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26900797|PMID:27332903|PMID:27506821|PMID:27532257|PMID:27813223|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28785654|PMID:28790152|PMID:29040816|PMID:29237675|PMID:29693488|PMID:29791652|PMID:29952368|PMID:29970176|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30564623|PMID:30847666|PMID:30919684|PMID:31194872|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31744510|PMID:31836692|PMID:31857427|PMID:31980526|PMID:32041611|PMID:32376792|PMID:32727917|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33293369|PMID:33407844|PMID:34999423|PMID:9536098 11845628 LMNA lamin A/C gene DOID:0060843 hereditary neuropathy with liability to pressure palsies ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary liability to pressure palsies PMID:16288874 11845628 LMNA lamin A/C gene DOID:0070074 autosomal dominant intellectual developmental disorder 44 ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY PMID:23062543|PMID:23183350|PMID:24846508|PMID:25741868|PMID:28492532|PMID:28663758|PMID:30847666 11845628 LMNA lamin A/C gene DOID:0070202 familial partial lipodystrophy type 2 ISO RGD:732790 D RGD:7240710 20180912 OMIM 11845628 LMNA lamin A/C gene DOID:0070202 familial partial lipodystrophy type 2 ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial partial lipodystrophy, Dunnigan type | ClinVar Annotator: match by term: Partial lipodystrophy, Dunnigan PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11015599|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11792811|PMID:11799477|PMID:11897440|PMID:12015247|PMID:12075506|PMID:12196663|PMID:12467734|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12669268|PMID:12702809|PMID:12729796|PMID:12784312|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15060110|PMID:15140538|PMID:15219508|PMID:15298354|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16278265|PMID:16364671|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16636128|PMID:16671095|PMID:16715312|PMID:16809772|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19169477|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19574635|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19933576|PMID:20041886|PMID:2007407|PMID:20074070|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20497714|PMID:20625965|PMID:20848652|PMID:20980393|PMID:21346069|PMID:21479595|PMID:21520333|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:2270059|PMID:22700598|PMID:23062543|PMID:23183350|PMID:23243001|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:25025039|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25982065|PMID:26027246|PMID:26084686|PMID:26165385|PMID:26183555|PMID:26220970|PMID:26383259|PMID:26392352|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27100822|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29040816|PMID:29078011|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31293201|PMID:31303467 11845628 LMNA lamin A/C gene DOID:0070202 familial partial lipodystrophy type 2 ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial partial lipodystrophy, Dunnigan type | ClinVar Annotator: match by term: Partial lipodystrophy, Dunnigan PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32475984|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32846814|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33916827|PMID:33963534|PMID:34768595|PMID:34862408|PMID:34999423|PMID:35449878|PMID:35535697|PMID:9500556|PMID:9536098 11845628 LMNA lamin A/C gene DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 ISO RGD:732790 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures PMID:11102973|PMID:11503164|PMID:12376891|PMID:12467752|PMID:12629077|PMID:12920062|PMID:12927431|PMID:14597414|PMID:14615128|PMID:15140538|PMID:15372542|PMID:15475483|PMID:15843404|PMID:15998779|PMID:16174718|PMID:17107595|PMID:17377071|PMID:17576681|PMID:18414213|PMID:18549403|PMID:18795223|PMID:19318026|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19638735|PMID:19680556|PMID:20848652|PMID:22326558|PMID:23183350|PMID:23328570|PMID:2338570|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24033266|PMID:24055113|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24768879|PMID:24794538|PMID:25214167|PMID:25448463|PMID:25637381|PMID:25741868|PMID:26183555|PMID:26220970|PMID:26467025|PMID:26602028|PMID:26752647|PMID:27332903|PMID:27506821|PMID:27532257|PMID:27813223|PMID:27884249|PMID:27896052|PMID:28492532|PMID:28531892|PMID:28663758|PMID:28679633|PMID:28785654|PMID:28790152|PMID:29237675|PMID:29693488|PMID:29952368|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30564623|PMID:30847666|PMID:31476771|PMID:31980526|PMID:32041611|PMID:32376792|PMID:32727917|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33407844|PMID:34999423|PMID:9536098 11845628 LMNA lamin A/C gene DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 ISO RGD:732790 D RGD:7240710 20180912 OMIM 11845628 LMNA lamin A/C gene DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B | ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11897440|PMID:12032588|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15744034|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16364671|PMID:16386954|PMID:16415042|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:17136397|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20530761|PMID:20625965|PMID:20848652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21479595|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24990833|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25343322|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27220833|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29895224|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32727917 11845628 LMNA lamin A/C gene DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B | ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B PMID:32818388|PMID:32880476|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34768595|PMID:34999423|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098 11845628 LMNA lamin A/C gene DOID:0070248 autosomal recessive Emery-Dreifuss muscular dystrophy 3 ISO RGD:732790 D RGD:7240710 20180523 OMIM 11845628 LMNA lamin A/C gene DOID:0070248 autosomal recessive Emery-Dreifuss muscular dystrophy 3 ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 3, autosomal recessive PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11561226|PMID:11792809|PMID:11897440|PMID:12524233|PMID:12647844|PMID:12669268|PMID:12920062|PMID:12927424|PMID:14510863|PMID:14659775|PMID:14749366|PMID:15060110|PMID:15298354|PMID:15531479|PMID:15770669|PMID:16181372|PMID:16199547|PMID:16364671|PMID:16415042|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:17524034|PMID:17711925|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18551513|PMID:18585512|PMID:18606848|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19574635|PMID:19622949|PMID:19638735|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20848652|PMID:21479595|PMID:21520333|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23427149|PMID:23582089|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24846508|PMID:25025039|PMID:2526018|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26084686|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27884249|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31977013|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34768595|PMID:9500556 11845628 LMNA lamin A/C gene DOID:0070369 restrictive dermopathy 1 ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 1 | ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 1, LETHAL PMID:10587585|PMID:10655060|PMID:10739751|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11503164|PMID:11792809|PMID:12524233|PMID:12629077|PMID:12647844|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14615128|PMID:15140538|PMID:15475483|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16364671|PMID:16415042|PMID:17377071|PMID:17576681|PMID:17893350|PMID:18414213|PMID:18549403|PMID:18728124|PMID:18795223|PMID:19011997|PMID:19201734|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19859838|PMID:2007407|PMID:20130076|PMID:20625965|PMID:20848652|PMID:21846512|PMID:22326558|PMID:22700598|PMID:22918509|PMID:23183350|PMID:23313286|PMID:23328570|PMID:2338570|PMID:23427149|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24033266|PMID:24055113|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24768879|PMID:25163546|PMID:25214167|PMID:25637381|PMID:25741868|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26404900|PMID:26467025|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26900797|PMID:27332903|PMID:27506821|PMID:27532257|PMID:27813223|PMID:27884249|PMID:27896052|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28785654|PMID:28790152|PMID:29237675|PMID:29693488|PMID:29791652|PMID:29952368|PMID:29970176|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30564623|PMID:30847666|PMID:30919684|PMID:31194872|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31744510|PMID:31836692|PMID:31857427|PMID:31980526|PMID:32041611|PMID:32376792|PMID:32727917|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33293369|PMID:33407844|PMID:34999423|PMID:9536098 11845628 LMNA lamin A/C gene DOID:0070370 restrictive dermopathy 2 ISO RGD:732790 D RGD:7240710 20230505 OMIM 11845628 LMNA lamin A/C gene DOID:0070370 restrictive dermopathy 2 ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 2, LETHAL | ClinVar Annotator: match by term: Restrictive dermopathy 2 PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11799477|PMID:11897440|PMID:12524233|PMID:12669268|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12920062|PMID:14510863|PMID:14659775|PMID:14749366|PMID:15032975|PMID:15060110|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15531479|PMID:15770669|PMID:15793835|PMID:15982412|PMID:16126733|PMID:16181372|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16738054|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17711925|PMID:17987279|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18551513|PMID:18585512|PMID:18795223|PMID:18926329|PMID:19172989|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19574635|PMID:19622949|PMID:19638735|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20307303|PMID:20497714|PMID:20580717|PMID:20625965|PMID:20848652|PMID:21251803|PMID:21479595|PMID:21520333|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22148005|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22893709|PMID:23141186|PMID:23183350|PMID:23299917|PMID:23328570|PMID:23349452|PMID:23427149|PMID:23582089|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24058181|PMID:24108105|PMID:24305605|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24846508|PMID:25025039|PMID:2526018|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25649378|PMID:25741868|PMID:25873806|PMID:25885670|PMID:25946677|PMID:26027246|PMID:26084686|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26662654|PMID:26670336|PMID:26724531|PMID:26733286|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27884249|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28790152|PMID:28807990|PMID:28878338|PMID:28878402|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31476771|PMID:31744510|PMID:31829210|PMID:31977013|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32297714|PMID:32376792|PMID:32818388|PMID:32880476|PMID:32943904|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34768595|PMID:9500556 11845628 LMNA lamin A/C gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:12057196|PMID:16407522|PMID:16585054|PMID:17576681|PMID:18414213|PMID:18714801|PMID:19589617|PMID:20627339|PMID:21535365|PMID:22071332|PMID:23142632|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24846508|PMID:25525159|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28518168|PMID:28663758|PMID:28679633|PMID:29095976|PMID:29237690|PMID:31019283|PMID:31333075|PMID:31476771|PMID:31568572|PMID:32376792|PMID:33673806|PMID:34240052|PMID:8621584|PMID:9536098 11845628 LMNA lamin A/C gene DOID:0080334 aortic valve disease 2 ISO RGD:732790 D RGD:9068941 20200609 RGD protein:decreased expression:aorta wall, nucleus (human) PMID:24560417|REF_RGD_ID:12791292 11845628 LMNA lamin A/C gene DOID:0081127 mandibuloacral dysplasia ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mandibuloacral dysplasia PMID:10739764|PMID:11503164|PMID:12075506|PMID:12788894|PMID:14627682|PMID:16364671|PMID:17848409|PMID:18604166|PMID:19764019|PMID:25324471|PMID:25741868|PMID:25823658|PMID:28492532|PMID:32041611|PMID:33422685|PMID:33458588|PMID:34135346|PMID:34680903 11845628 LMNA lamin A/C gene DOID:0081128 mandibuloacral dysplasia type A lipodystrophy ISO RGD:732790 D RGD:7240710 20180130 OMIM 11845628 LMNA lamin A/C gene DOID:0081128 mandibuloacral dysplasia type A lipodystrophy ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Lipodystrophy, type A, associated with mandibuloacral dysplasia | ClinVar Annotator: match by term: Mandibuloacral dysostosis | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy, atypical PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11897440|PMID:12075506|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12669268|PMID:12768443|PMID:12784312|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14749366|PMID:15060110|PMID:15140538|PMID:15286156|PMID:15298354|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16772334|PMID:16809772|PMID:17250669|PMID:17274801|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17848409|PMID:17893350|PMID:17935239|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20848652|PMID:20980393|PMID:21479595|PMID:21520333|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22918509|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24861648|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25982065|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26392352|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27100822|PMID:27153395|PMID:27199538|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29040816|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32456328|PMID:32475984|PMID:32727917 11845628 LMNA lamin A/C gene DOID:0081128 mandibuloacral dysplasia type A lipodystrophy ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Lipodystrophy, type A, associated with mandibuloacral dysplasia | ClinVar Annotator: match by term: Mandibuloacral dysostosis | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy, atypical PMID:32746448|PMID:32818388|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33916827|PMID:33963534|PMID:34135346|PMID:34680903|PMID:34768595|PMID:34999423|PMID:35535697|PMID:9500556|PMID:9536098 11845628 LMNA lamin A/C gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:25741868 11845628 LMNA lamin A/C gene DOID:0110156 Charcot-Marie-Tooth disease type 2B1 ISO RGD:732790 D RGD:7240710 20180130 OMIM 11845628 LMNA lamin A/C gene DOID:0110156 Charcot-Marie-Tooth disease type 2B1 ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2B1 PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12467734|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15744034|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16809772|PMID:17250669|PMID:17274801|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20848652|PMID:20980393|PMID:21479595|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26392352|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29040816|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33916827|PMID:33963534|PMID:34768595|PMID:34862408|PMID:34999423 11845628 LMNA lamin A/C gene DOID:0110156 Charcot-Marie-Tooth disease type 2B1 ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2B1 PMID:35449878|PMID:35535697|PMID:9500556|PMID:9536098 11845628 LMNA lamin A/C gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:12920062|PMID:15475483|PMID:15998779|PMID:17377071|PMID:17576681|PMID:18414213|PMID:18549403|PMID:18795223|PMID:19318026|PMID:19424285|PMID:19427440|PMID:19638735|PMID:23861362|PMID:24001739|PMID:24033266|PMID:24721642|PMID:25741868|PMID:26467025|PMID:26602028|PMID:27896052|PMID:28492532|PMID:28679633|PMID:28785654|PMID:9536098 11845628 LMNA lamin A/C gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:11102973|PMID:12920062|PMID:15475483|PMID:15998779|PMID:17377071|PMID:17576681|PMID:18414213|PMID:18549403|PMID:18795223|PMID:19318026|PMID:19424285|PMID:19427440|PMID:19638735|PMID:21465660|PMID:23861362|PMID:24001739|PMID:24033266|PMID:24721642|PMID:25741868|PMID:26467025|PMID:26602028|PMID:27896052|PMID:28492532|PMID:28679633|PMID:28785654|PMID:29237675|PMID:29952368|PMID:30402260|PMID:32818388|PMID:33407844|PMID:9536098 11845628 LMNA lamin A/C gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:11102973|PMID:12920062|PMID:15475483|PMID:15998779|PMID:17377071|PMID:17576681|PMID:18414213|PMID:18549403|PMID:18795223|PMID:19318026|PMID:19424285|PMID:19427440|PMID:19638735|PMID:23861362|PMID:24001739|PMID:24033266|PMID:24721642|PMID:25741868|PMID:26467025|PMID:26602028|PMID:27896052|PMID:28492532|PMID:28679633|PMID:28785654|PMID:29237675|PMID:29952368|PMID:30402260|PMID:32818388|PMID:33407844|PMID:9536098 11845628 LMNA lamin A/C gene DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B ISO RGD:732790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B PMID:18585512|PMID:18926329|PMID:25741868|PMID:28492532|PMID:31263448 11845628 LMNA lamin A/C gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10580070|PMID:16407522|PMID:16585054|PMID:18414213|PMID:18714801|PMID:20627339|PMID:22071332|PMID:23142632|PMID:24033266|PMID:24503780|PMID:24846508|PMID:25525159|PMID:25741868|PMID:27532257|PMID:27760138|PMID:28492532|PMID:28518168|PMID:28663758|PMID:28679633|PMID:29095976|PMID:29237690|PMID:31019283|PMID:31476771|PMID:33673806|PMID:34240052|PMID:8621584 11845628 LMNA lamin A/C gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10580070|PMID:16407522|PMID:16585054|PMID:17576681|PMID:18414213|PMID:18714801|PMID:20627339|PMID:22071332|PMID:23142632|PMID:24033266|PMID:24503780|PMID:24846508|PMID:25525159|PMID:25741868|PMID:27532257|PMID:27760138|PMID:28492532|PMID:28518168|PMID:28663758|PMID:28679633|PMID:29095976|PMID:29237690|PMID:31019283|PMID:31476771|PMID:32376792|PMID:33673806|PMID:34240052|PMID:8621584|PMID:9536098 11845628 LMNA lamin A/C gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:732790 D RGD:7240710 20180919 OMIM 11845628 LMNA lamin A/C gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12196663|PMID:12467734|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15219508|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15972724|PMID:15998779|PMID:16008174|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17274801|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19167105|PMID:19169477|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:2007407|PMID:20074070|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20625965|PMID:20627339|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21173262|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:2270059|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25343322|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26467025|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27235420|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27760138|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052 11845628 LMNA lamin A/C gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878402|PMID:28912206|PMID:29040816|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33963534|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34999423|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 11845628 LMNA lamin A/C gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12196663|PMID:12467734|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15219508|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15972724|PMID:15998779|PMID:16008174|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17274801|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19167105|PMID:19169477|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:2007407|PMID:20074070|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20625965|PMID:20627339|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21173262|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:2270059|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25343322|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26467025|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27235420|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27760138|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249 11845628 LMNA lamin A/C gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878402|PMID:28912206|PMID:29040816|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33963534|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34862408|PMID:34999423|PMID:35449878|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 11845628 LMNA lamin A/C gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12467734|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14607793|PMID:14615128|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15998779|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16809772|PMID:16965317|PMID:17250669|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19167105|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21173262|PMID:21315846|PMID:21479595|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25343322|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195 11845628 LMNA lamin A/C gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:29237675|PMID:29237690|PMID:29382405|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33963534|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34862408|PMID:34999423|PMID:35449878|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 11845628 LMNA lamin A/C gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:11897440|PMID:12376891|PMID:12467752|PMID:14597414|PMID:15372542|PMID:15843404|PMID:16715312|PMID:17107595|PMID:17612587|PMID:17711925|PMID:17987279|PMID:18182166|PMID:18585512|PMID:18926329|PMID:19318026|PMID:19524666|PMID:19875404|PMID:21840938|PMID:21846512|PMID:23183350|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24033266|PMID:24058181|PMID:24503780|PMID:24623722|PMID:24794538|PMID:25448463|PMID:25469153|PMID:25741868|PMID:26467025|PMID:26899768|PMID:27026223|PMID:27373676|PMID:27421120|PMID:27506821|PMID:27532257|PMID:28492532|PMID:28531892|PMID:28759816|PMID:28878402|PMID:29237675|PMID:29943882|PMID:30007954|PMID:30178466|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30765282|PMID:30847666|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31737537|PMID:31977013|PMID:31983221|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32376792|PMID:32793522|PMID:32880476|PMID:33673806|PMID:34363016 11845628 LMNA lamin A/C gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:11897440|PMID:15219508|PMID:15539782|PMID:16061563|PMID:16537768|PMID:17334235|PMID:18795223|PMID:19589617|PMID:20307303|PMID:22199124|PMID:22918509|PMID:23183350|PMID:23349452|PMID:23701190|PMID:24033266|PMID:24386194|PMID:25741868|PMID:25988045|PMID:26199943|PMID:26332594|PMID:26899768|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29791652|PMID:31857427 11845628 LMNA lamin A/C gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct PMID:21465660|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26602028|PMID:28492532 11845628 LMNA lamin A/C gene DOID:0110640 congenital muscular dystrophy due to LMNA mutation ISO RGD:732790 D RGD:7240710 20180130 OMIM 11845628 LMNA lamin A/C gene DOID:0110640 congenital muscular dystrophy due to LMNA mutation ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutation | ClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-related PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11897440|PMID:12057196|PMID:12075506|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12669268|PMID:12768443|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14749366|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15622532|PMID:15770669|PMID:15961312|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16809772|PMID:17250669|PMID:17274801|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17881656|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18606848|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21479595|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21653823|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22090424|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22491857|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22918509|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24721642|PMID:24768879|PMID:24806962|PMID:24846508|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25326635|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25885670|PMID:25982065|PMID:26027246|PMID:26084686|PMID:26098624|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26392352|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27199538|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27600705|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29040816|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434 11845628 LMNA lamin A/C gene DOID:0110640 congenital muscular dystrophy due to LMNA mutation ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutation | ClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-related PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32571898|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33916827|PMID:33963534|PMID:34008892|PMID:34768595|PMID:34999423|PMID:35535697|PMID:9500556|PMID:9536098 11845628 LMNA lamin A/C gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy PMID:18585512|PMID:18926329|PMID:25741868|PMID:25886484|PMID:28152038|PMID:28492532 11845628 LMNA lamin A/C gene DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome ISO RGD:732790 D RGD:7240710 20180130 OMIM 11845628 LMNA lamin A/C gene DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | ClinVar Annotator: match by term: Genital anomaly with cardiomyopathy PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11015599|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11792809|PMID:11897440|PMID:12467752|PMID:12524233|PMID:12647844|PMID:12669268|PMID:12920062|PMID:12927424|PMID:12927431|PMID:13129702|PMID:14510863|PMID:14607793|PMID:14659775|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15219508|PMID:15298354|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15770669|PMID:15965218|PMID:16181372|PMID:16199547|PMID:16364671|PMID:16415042|PMID:16459536|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:17150192|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19283854|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19446900|PMID:19574635|PMID:19622949|PMID:19638735|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20074070|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20848652|PMID:21479595|PMID:21520333|PMID:21831885|PMID:21840938|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22103509|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:2270059|PMID:22700598|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23427149|PMID:23582089|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24846508|PMID:25025039|PMID:25163546|PMID:2526018|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26084686|PMID:26383259|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26662654|PMID:26724531|PMID:26733286|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27633507|PMID:27650965|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27884249|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31977013|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34768595|PMID:9500556|PMID:9536098 11845628 LMNA lamin A/C gene DOID:0111940 immunodeficiency 42 ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11845628 LMNA lamin A/C gene DOID:0112096 nuclear type mitochondrial complex I deficiency 16 ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 PMID:11799477|PMID:12467734|PMID:14607793|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17711925|PMID:17760566|PMID:18549403|PMID:22331516|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30340945|PMID:30420677|PMID:34862408|PMID:35449878 11845628 LMNA lamin A/C gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11845628 LMNA lamin A/C gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11845628 LMNA lamin A/C gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10587585|PMID:10655060|PMID:10739751|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11342468|PMID:11344241|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15965218|PMID:15998779|PMID:16084085|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17377071|PMID:17848409|PMID:18348272|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18926329|PMID:19220582|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21520333|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22526018|PMID:22570643|PMID:23062543|PMID:23183350|PMID:23349452|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:27000522|PMID:27153395|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27723096|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29943882|PMID:30007954|PMID:30012837|PMID:30402260|PMID:30420677|PMID:30488537|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31303467|PMID:31744510|PMID:32456328|PMID:8621584 11845628 LMNA lamin A/C gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732790 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10587585|PMID:10655060|PMID:10739751|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11342468|PMID:11344241|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15965218|PMID:15998779|PMID:16084085|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17377071|PMID:17848409|PMID:18348272|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18926329|PMID:19220582|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21520333|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22526018|PMID:22570643|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:27000522|PMID:27153395|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27723096|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29943882|PMID:30007954|PMID:30012837|PMID:30402260|PMID:30420677|PMID:30488537|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31303467|PMID:31383942|PMID:31744510|PMID:32376792|PMID:32456328|PMID:32880476|PMID:8621584 11845628 LMNA lamin A/C gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11342468|PMID:11344241|PMID:11503164|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12669268|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14510863|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16084085|PMID:16181372|PMID:16364671|PMID:16459536|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17377071|PMID:17524034|PMID:17711925|PMID:17848409|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18585512|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21465660|PMID:21479595|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23427149|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26724531|PMID:26756202|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30402260|PMID:30420677|PMID:30488537|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31514951|PMID:31744510|PMID:32041611|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33422685|PMID:33458588|PMID:34135346|PMID:34363016|PMID:34680903|PMID:34768595|PMID:8621584|PMID:9500556 11845628 LMNA lamin A/C gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11342468|PMID:11344241|PMID:11503164|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12669268|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14510863|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16084085|PMID:16181372|PMID:16364671|PMID:16459536|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17848409|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18585512|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21479595|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23427149|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26724531|PMID:26756202|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30402260|PMID:30420677|PMID:30488537|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31514951|PMID:31744510|PMID:32041611|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33422685|PMID:33458588|PMID:34135346|PMID:34363016|PMID:34680903|PMID:34768595|PMID:8621584|PMID:9500556|PMID:9536098 11845628 LMNA lamin A/C gene DOID:10754 otitis media ISO RGD:732791 D RGD:9068941 20220825 MouseDO OMIM:166760 11845628 LMNA lamin A/C gene DOID:11612 polycystic ovary syndrome ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11845628 LMNA lamin A/C gene DOID:11712 lipoatrophic diabetes mellitus ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial partial lipodystrophy 2 PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12467734|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12669268|PMID:12702809|PMID:12784312|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14607793|PMID:14615128|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16415042|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16809772|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18606848|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19574635|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20497714|PMID:20625965|PMID:20848652|PMID:21346069|PMID:21479595|PMID:21520333|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24768879|PMID:24846508|PMID:25025039|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25351510|PMID:25367549|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25819867|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26084686|PMID:26165385|PMID:26183555|PMID:26220970|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27100822|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32475984|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33916827|PMID:33963534|PMID:34768595|PMID:34862408|PMID:34999423|PMID:35449878|PMID:35535697|PMID:9500556|PMID:9536098 11845628 LMNA lamin A/C gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10814726|PMID:12032588|PMID:30055862 11845628 LMNA lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10080180|PMID:10580070|PMID:10655060|PMID:10662742|PMID:10739764|PMID:10814726|PMID:10939567|PMID:11138304|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11901143|PMID:12032588|PMID:12057196|PMID:12196663|PMID:12376891|PMID:12467752|PMID:12628721|PMID:12629077|PMID:12649505|PMID:12673789|PMID:12748643|PMID:12920062|PMID:12927431|PMID:14597414|PMID:14615128|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15140538|PMID:15148145|PMID:15372542|PMID:15475483|PMID:15668447|PMID:15744034|PMID:15998779|PMID:16174718|PMID:16218190|PMID:16386954|PMID:16440304|PMID:16772334|PMID:17107595|PMID:17136397|PMID:17274801|PMID:17377071|PMID:17576681|PMID:18035086|PMID:1839274|PMID:18396274|PMID:18414213|PMID:1849984|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18795223|PMID:18926329|PMID:19084400|PMID:19318026|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19882644|PMID:19933576|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20498703|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21535365|PMID:21632249|PMID:21840938|PMID:22224630|PMID:22266370|PMID:22326558|PMID:22431096|PMID:22464770|PMID:2280636|PMID:22883396|PMID:22918509|PMID:23183350|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24033266|PMID:24055113|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24990833|PMID:25214167|PMID:25326637|PMID:25448463|PMID:25637381|PMID:25741868|PMID:25948554|PMID:25987458|PMID:26098624|PMID:26183555|PMID:26332594|PMID:26443318|PMID:26467025|PMID:26602028|PMID:26752647|PMID:27220833|PMID:27374873|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27717888|PMID:27723096|PMID:27813223|PMID:27854218|PMID:27896052|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28785654|PMID:29040816|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29791652|PMID:30055862|PMID:30165862|PMID:30528549|PMID:30847666|PMID:30871747|PMID:31303467|PMID:31383942|PMID:31829210|PMID:31857427|PMID:32041611|PMID:32376792|PMID:32571898|PMID:32793522|PMID:34008892|PMID:8619549|PMID:9106535|PMID:9536098 11845628 LMNA lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11136544|PMID:11138304|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11901143|PMID:12032588|PMID:12057196|PMID:12196663|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12673789|PMID:12748643|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14597414|PMID:14615128|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15140538|PMID:15148145|PMID:15372542|PMID:15475483|PMID:15668447|PMID:15744034|PMID:15843404|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16364671|PMID:16386954|PMID:16415042|PMID:16440304|PMID:16772334|PMID:17107595|PMID:17136397|PMID:17274801|PMID:17377071|PMID:17576681|PMID:17893350|PMID:18035086|PMID:1839274|PMID:18396274|PMID:18414213|PMID:1849984|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20498703|PMID:20530761|PMID:20625965|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21535365|PMID:21632249|PMID:21840938|PMID:21846512|PMID:22224630|PMID:22266370|PMID:22326558|PMID:22431096|PMID:22464770|PMID:22700598|PMID:2280636|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23142632|PMID:23183350|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24033266|PMID:24055113|PMID:24237251|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24990833|PMID:25214167|PMID:25326637|PMID:25448463|PMID:25637381|PMID:25741868|PMID:25948554|PMID:25987458|PMID:26098624|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26443318|PMID:26467025|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26752647|PMID:27220833|PMID:27332903|PMID:27374873|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27717888|PMID:27723096|PMID:27813223|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28785654|PMID:28790152|PMID:29040816|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29693488|PMID:29791652|PMID:29895224|PMID:30055862|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31980526|PMID:32041611|PMID:32376792|PMID:32571898|PMID:32727917|PMID:32793522|PMID:32880476|PMID:34008892|PMID:34999423|PMID:8619549|PMID:9106535|PMID:9536098 11845628 LMNA lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11897440|PMID:11901143|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12748643|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15476822|PMID:15531479|PMID:15668447|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16364671|PMID:16386954|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16772334|PMID:17107595|PMID:17136397|PMID:17274801|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:1849984|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20497714|PMID:20498703|PMID:20530761|PMID:20625965|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21479595|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23077635|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24349489|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24990833|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25326637|PMID:25343322|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25982065|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26392352|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27220833|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27717888|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304 11845628 LMNA lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29040816|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30083363|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31434876|PMID:31447099|PMID:31476771|PMID:31498906|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32528171|PMID:32571898|PMID:32727917|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33250842|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34008892|PMID:34240052|PMID:34768595|PMID:34862408|PMID:34999423|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098 11845628 LMNA lamin A/C gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23183350|PMID:23328570|PMID:2338570|PMID:24033266|PMID:24503780|PMID:24768879|PMID:25741868|PMID:26183555|PMID:26220970|PMID:26752647|PMID:27532257|PMID:27813223|PMID:28492532|PMID:28531892|PMID:28663758|PMID:28790152|PMID:29693488|PMID:30326651|PMID:30402260|PMID:30564623|PMID:31476771|PMID:32880476 11845628 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10612827|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10814726|PMID:10908904|PMID:10939567|PMID:11102526|PMID:11102973|PMID:11138304|PMID:11180602|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12075506|PMID:12196663|PMID:12628721|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:14627682|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16386954|PMID:16407522|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17076270|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17536044|PMID:17599607|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19318026|PMID:19328042|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19875404|PMID:19882644|PMID:19933576|PMID:20155465|PMID:20160190|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21980471|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23360689|PMID:23362510|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26084686|PMID:26332594|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26602028|PMID:26670336|PMID:26899768|PMID:27000522|PMID:27153395|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27723096|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29497013|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29893365|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837 11845628 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:32004434|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32880476|PMID:32943904|PMID:33673806|PMID:34213952|PMID:8621584 11845628 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10612827|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10814726|PMID:10908904|PMID:10939567|PMID:11102526|PMID:11102973|PMID:11138304|PMID:11180602|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12196663|PMID:12628721|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16386954|PMID:16407522|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17076270|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17536044|PMID:17599607|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19318026|PMID:19328042|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19875404|PMID:19882644|PMID:19933576|PMID:20155465|PMID:20160190|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21980471|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23360689|PMID:23362510|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25946677|PMID:25948554|PMID:25987458|PMID:25988045|PMID:26084686|PMID:26332594|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26602028|PMID:26670336|PMID:26899768|PMID:27000522|PMID:27153395|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27723096|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29432544|PMID:29497013|PMID:29693488|PMID:29791652|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31264968|PMID:31303467|PMID:31383942 11845628 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31857427|PMID:31977013|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32746448|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33673806|PMID:34213952|PMID:35535697|PMID:8621584 11845628 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10612827|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10814726|PMID:10908904|PMID:10939567|PMID:11102526|PMID:11102973|PMID:11138304|PMID:11180602|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12196663|PMID:12628721|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16386954|PMID:16407522|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17076270|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17536044|PMID:17599607|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19318026|PMID:19328042|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19875404|PMID:19882644|PMID:19933576|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21980471|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23360689|PMID:23362510|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25946677|PMID:25948554|PMID:25987458|PMID:25988045|PMID:26084686|PMID:26332594|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26602028|PMID:26670336|PMID:26899768|PMID:27000522|PMID:27153395|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27723096|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29432544|PMID:29497013|PMID:29693488|PMID:29791652|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31264968 11845628 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:31303467|PMID:31383942|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31857427|PMID:31977013|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32746448|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33673806|PMID:34213952|PMID:34773379|PMID:35535697|PMID:8621584 11845628 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10612827|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10814726|PMID:10908904|PMID:10939567|PMID:11102526|PMID:11102973|PMID:11138304|PMID:11180602|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12196663|PMID:12628721|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16386954|PMID:16407522|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17536044|PMID:17599607|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19318026|PMID:19328042|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19875404|PMID:19882644|PMID:19933576|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21980471|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23360689|PMID:23362510|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25946677|PMID:25948554|PMID:25987458|PMID:25988045|PMID:26084686|PMID:26332594|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26602028|PMID:26670336|PMID:26899768|PMID:27000522|PMID:27153395|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27723096|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29432544|PMID:29497013|PMID:29693488|PMID:29791652|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31264968|PMID:31303467 11845628 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:31383942|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31857427|PMID:31977013|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32746448|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33673806|PMID:34213952|PMID:34773379|PMID:35535697|PMID:8621584 11845628 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12196663|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21465660|PMID:21479595|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:2280636|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970 11845628 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33673806|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 11845628 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32458740|PMID:32571898|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 11845628 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670 11845628 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670 11845628 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12467734|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453 11845628 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32458740|PMID:32571898|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 11845628 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12467734|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323 11845628 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25567453|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32458740|PMID:32571898|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34999423|PMID:35449878|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 11845628 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy severity ISO RGD:732790 D RGD:9068941 20200609 RGD DNA:missense mutations, deletion:cds:multiple (human) PMID:12628721|REF_RGD_ID:1580515 11845628 LMNA lamin A/C gene DOID:1389 polyneuropathy ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyneuropathy 11845628 LMNA lamin A/C gene DOID:1540 parathyroid carcinoma ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11845628 LMNA lamin A/C gene DOID:224 transient cerebral ischemia ISO RGD:620456 D RGD:9068941 20200609 RGD PMID:17683050|REF_RGD_ID:2293745 11845628 LMNA lamin A/C gene DOID:2349 arteriosclerosis ISO RGD:620456 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:16620292|REF_RGD_ID:2302364 11845628 LMNA lamin A/C gene DOID:2843 long QT syndrome ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10580070|PMID:11102973|PMID:25741868|PMID:28492532|PMID:28686329|PMID:29237675|PMID:29952368|PMID:32818388|PMID:33407844 11845628 LMNA lamin A/C gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532|PMID:28663758|PMID:31383942 11845628 LMNA lamin A/C gene DOID:3910 lung adenocarcinoma ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 11845628 LMNA lamin A/C gene DOID:3911 progeria ISO RGD:732790 D RGD:7240710 20180130 OMIM 11845628 LMNA lamin A/C gene DOID:3911 progeria ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hutchinson-Gilford progeria syndrome, atypical | ClinVar Annotator: match by term: Hutchinson-Gilford syndrome PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:11901143|PMID:12057196|PMID:12075506|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12629077|PMID:12647844|PMID:12669268|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15060110|PMID:15121795|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15793835|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16364671|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16965317|PMID:17274801|PMID:17347251|PMID:17377071|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:1849984|PMID:18549403|PMID:18551513|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20497714|PMID:20580717|PMID:20625965|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21173262|PMID:21251803|PMID:21479595|PMID:21520333|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22065502|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22419169|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22893709|PMID:22918509|PMID:23141186|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23659872|PMID:23666920|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24305605|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24639906|PMID:24642510|PMID:24687084|PMID:24721642|PMID:24768879|PMID:24846508|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25326635|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25649378|PMID:25741868|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25982065|PMID:26027246|PMID:26084686|PMID:26165385|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26392352|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27199538|PMID:27332903|PMID:27334370|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:27920058|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878338|PMID:28878402|PMID:29040816|PMID:29149195|PMID:29237675 11845628 LMNA lamin A/C gene DOID:3911 progeria ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hutchinson-Gilford progeria syndrome, atypical | ClinVar Annotator: match by term: Hutchinson-Gilford syndrome PMID:29438482|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31498906|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32297714|PMID:32376792|PMID:32666643|PMID:32727917|PMID:32818388|PMID:32880476|PMID:32943904|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34768595|PMID:34862408|PMID:34999423|PMID:35449878|PMID:9500556|PMID:9536098 11845628 LMNA lamin A/C gene DOID:440 neuromuscular disease ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neuromuscular disease | ClinVar Annotator: match by term: Neuromuscular disorder PMID:15678000|PMID:16199547|PMID:17377071|PMID:18585512|PMID:18926329|PMID:19446900|PMID:24033266|PMID:24503780|PMID:24915601|PMID:25741868|PMID:27506821|PMID:28492532|PMID:28679633|PMID:28798025|PMID:28912206|PMID:29693488|PMID:31447099|PMID:31476771 11845628 LMNA lamin A/C gene DOID:5688 Werner syndrome ISO RGD:732790 D RGD:9068941 20200609 RGD atypical;DNA:missense mutations:cds:p.A57P, p.R133L, p.L140R (human) PMID:12927431|REF_RGD_ID:12791031 11845628 LMNA lamin A/C gene DOID:574 peripheral nervous system disease ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:19589617|PMID:22918509|PMID:23183350|PMID:24033266|PMID:25741868|PMID:26332594|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29791652|PMID:31857427 11845628 LMNA lamin A/C gene DOID:5812 MHC class II deficiency ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11845628 LMNA lamin A/C gene DOID:630 genetic disease ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10587585|PMID:10655060|PMID:10739751|PMID:10908904|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:12524233|PMID:12669268|PMID:12920062|PMID:14510863|PMID:14749366|PMID:15060110|PMID:15531479|PMID:16181372|PMID:16218190|PMID:16459536|PMID:17524034|PMID:18396274|PMID:19169477|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19418082|PMID:19574635|PMID:19622949|PMID:19859838|PMID:20130076|PMID:20625965|PMID:20848652|PMID:21479595|PMID:21945321|PMID:21989830|PMID:22276265|PMID:22700598|PMID:23427149|PMID:23783098|PMID:23846499|PMID:24002959|PMID:24033266|PMID:24108105|PMID:24375749|PMID:24503780|PMID:25524705|PMID:25741868|PMID:25885670|PMID:26027246|PMID:26662654|PMID:26724531|PMID:26756202|PMID:26976018|PMID:27504462|PMID:27532257|PMID:27841971|PMID:28492532|PMID:28641778|PMID:28751304|PMID:29438482|PMID:32012908|PMID:9500556 11845628 LMNA lamin A/C gene DOID:6713 cerebrovascular disease ISO RGD:732790 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:cds:1908C>T (human) PMID:16117820|REF_RGD_ID:2306095 11845628 LMNA lamin A/C gene DOID:811 lipodystrophy ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lipodystrophy PMID:12920062|PMID:15060110|PMID:19095983|PMID:19169477|PMID:19589617|PMID:22700598|PMID:22918509|PMID:23183350|PMID:23666920|PMID:24033266|PMID:25327215|PMID:25741868|PMID:26332594|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29047356|PMID:29791652|PMID:30123186|PMID:30696354|PMID:31857427|PMID:32548202|PMID:32954377 11845628 LMNA lamin A/C gene DOID:8472 localized scleroderma ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15726408 11845628 LMNA lamin A/C gene DOID:870 neuropathy ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autosomal recessive axonal hereditary motor and sensory neuropathy | ClinVar Annotator: match by term: Peripheral neuropathy PMID:11799477|PMID:12467734|PMID:14607793|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17711925|PMID:17760566|PMID:18549403|PMID:19589617|PMID:22331516|PMID:22918509|PMID:23183350|PMID:24033266|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29791652|PMID:30340945|PMID:30420677|PMID:31857427|PMID:34862408|PMID:35449878 11845628 LMNA lamin A/C gene DOID:9000064 Cardiac Arrhythmias ISO RGD:732791 D RGD:9068941 20200609 RGD PMID:18182166|REF_RGD_ID:2306092 11845628 LMNA lamin A/C gene DOID:9000067 Congenital Foot Deformities ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15996213 11845628 LMNA lamin A/C gene DOID:9000488 Progeria Syndrome, Childhood-Onset ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hutchinson-Gilford progeria syndrome, childhood-onset PMID:11015599|PMID:11503164|PMID:11792811|PMID:12629077|PMID:12927431|PMID:14615128|PMID:16174718|PMID:26724531|PMID:28492532|PMID:31293201 11845628 LMNA lamin A/C gene DOID:9000652 Cardiac Conduction Disease with or without Dilated Cardiomyopathy ISO RGD:732790 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple (human) PMID:10580070|REF_RGD_ID:11066902 11845628 LMNA lamin A/C gene DOID:9000655 Hereditary Motor Neuropathy with Myopathic Features ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neuromyopathy PMID:17377071|PMID:24033266|PMID:24503780|PMID:24915601|PMID:25741868|PMID:27506821|PMID:28492532|PMID:28679633|PMID:28798025|PMID:28912206|PMID:29693488|PMID:31447099|PMID:31476771 11845628 LMNA lamin A/C gene DOID:9000808 Hypercholesterolemia ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypercholesterolaemia PMID:19589617|PMID:22918509|PMID:23183350|PMID:24033266|PMID:25741868|PMID:26332594|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29791652|PMID:31857427 11845628 LMNA lamin A/C gene DOID:9001502 Congenital Microtia ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Microtia PMID:19589617|PMID:22918509|PMID:23183350|PMID:24033266|PMID:25741868|PMID:26332594|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29791652|PMID:31857427 11845628 LMNA lamin A/C gene DOID:9001751 Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: IRAN, TYPE A PMID:15919811|PMID:16478798|PMID:20848652|PMID:23785128|PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 11845628 LMNA lamin A/C gene DOID:9002165 Diabetic Nephropathies ISO RGD:732790 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:cds:1908C>T (human) PMID:16117820|REF_RGD_ID:2306095 11845628 LMNA lamin A/C gene DOID:9003163 Heart Block ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15996213 11845628 LMNA lamin A/C gene DOID:9003205 Heart-Hand Syndrome, Slovenian Type ISO RGD:732790 D RGD:7240710 20180130 OMIM 11845628 LMNA lamin A/C gene DOID:9003205 Heart-Hand Syndrome, Slovenian Type ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Heart-hand syndrome, Slovenian type PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11792809|PMID:11897440|PMID:12524233|PMID:12647844|PMID:12669268|PMID:12920062|PMID:12927424|PMID:14510863|PMID:14659775|PMID:14749366|PMID:15060110|PMID:15298354|PMID:15531479|PMID:15770669|PMID:15996213|PMID:16181372|PMID:16364671|PMID:16415042|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:17524034|PMID:17711925|PMID:17893350|PMID:17987279|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18551513|PMID:18585512|PMID:18611980|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19574635|PMID:19622949|PMID:19638735|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20848652|PMID:21479595|PMID:21520333|PMID:21831885|PMID:21840938|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23427149|PMID:23582089|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24846508|PMID:25025039|PMID:2526018|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26084686|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26662654|PMID:26724531|PMID:26733286|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27884249|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31977013|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34768595|PMID:9500556 11845628 LMNA lamin A/C gene DOID:9003846 Sinoatrial Block ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15996213 11845628 LMNA lamin A/C gene DOID:9004416 Paroxysmal Ventricular Fibrillation ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paroxysmal familial ventricular fibrillation PMID:23703017|PMID:25256213|PMID:25481314|PMID:28492532 11845628 LMNA lamin A/C gene DOID:9004795 Congenital Hand Deformities ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15996213 11845628 LMNA lamin A/C gene DOID:9005141 Ventricular Tachycardia ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15996213 11845628 LMNA lamin A/C gene DOID:9006138 Laminopathies ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laminopathies | ClinVar Annotator: match by term: Laminopathy PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11136544|PMID:11503164|PMID:11792809|PMID:12032588|PMID:12524233|PMID:12647844|PMID:12927424|PMID:14684700|PMID:16181372|PMID:16364671|PMID:16415042|PMID:17893350|PMID:18551513|PMID:18564364|PMID:18728124|PMID:19011997|PMID:19201734|PMID:19418082|PMID:19859838|PMID:2007407|PMID:20130076|PMID:20625965|PMID:20848652|PMID:20886652|PMID:21632249|PMID:22224630|PMID:22266370|PMID:22464770|PMID:22700598|PMID:23183350|PMID:23313286|PMID:23427149|PMID:23853504|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24656463|PMID:24806962|PMID:24846508|PMID:25637381|PMID:25741868|PMID:26098624|PMID:26662654|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27723096|PMID:27884249|PMID:28492532|PMID:28641778|PMID:28679633|PMID:28878402|PMID:29149195|PMID:29237675|PMID:29893365|PMID:29943882|PMID:30007954|PMID:30165862|PMID:30287275|PMID:30528549|PMID:30847666|PMID:30871747|PMID:31194872|PMID:31303467|PMID:31447099|PMID:31829210|PMID:31836692|PMID:32041611|PMID:32155092|PMID:33673806 11845628 LMNA lamin A/C gene DOID:9006646 Metabolic Syndrome ISO RGD:732790 D RGD:9068941 20200609 RGD DNA:SNP: :c.138747C>T (human) PMID:15205219|REF_RGD_ID:2306121 11845628 LMNA lamin A/C gene DOID:9007661 Dwarfism ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:19589617|PMID:22918509|PMID:23183350|PMID:24033266|PMID:25741868|PMID:26332594|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29791652|PMID:31857427 11845628 LMNA lamin A/C gene DOID:9007692 Insulin Resistance ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Insulin-resistance syndrome type A PMID:15919811|PMID:16478798|PMID:20848652|PMID:23785128|PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 11845628 LMNA lamin A/C gene DOID:9007820 Sudden Death ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:10814726|PMID:12628721|PMID:12673789|PMID:12920062|PMID:15053843|PMID:16386954|PMID:17136397|PMID:17377071|PMID:18035086|PMID:18414213|PMID:18564364|PMID:18646565|PMID:19524666|PMID:21632249|PMID:21840938|PMID:23142632|PMID:23183350|PMID:24503780|PMID:24990833|PMID:25741868|PMID:26443318|PMID:27220833|PMID:28492532|PMID:29693488|PMID:29895224|PMID:30055862|PMID:8619549|PMID:9106535 11845628 LMNA lamin A/C gene DOID:9007925 Sudden Cardiac Death ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Family history of sudden cardiac death PMID:17711925|PMID:25741868|PMID:28492532 11845628 LMNA lamin A/C gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15726408 11845628 LMNA lamin A/C gene DOID:9008856 HIV-Associated Lipodystrophy Syndrome ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18230615 11845628 LMNA lamin A/C gene DOID:9164 achalasia ISO RGD:732791 D RGD:9068941 20220825 MouseDO OMIM:200400 11845628 LMNA lamin A/C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11845628 LMNA lamin A/C gene DOID:9351 diabetes mellitus ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11792809|PMID:12057196|PMID:12524233|PMID:12647844|PMID:12927424|PMID:15060110|PMID:15219508|PMID:15770669|PMID:16181372|PMID:16364671|PMID:16415042|PMID:16585054|PMID:17893350|PMID:18035086|PMID:18478590|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19418082|PMID:19589617|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20074070|PMID:20130076|PMID:20497714|PMID:20625965|PMID:20848652|PMID:21535365|PMID:21831885|PMID:21980471|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22355414|PMID:22526018|PMID:22570643|PMID:2270059|PMID:22700598|PMID:23313286|PMID:23349452|PMID:23427149|PMID:23853504|PMID:23861362|PMID:24033266|PMID:24080738|PMID:24375749|PMID:24503780|PMID:24623722|PMID:25025039|PMID:25163546|PMID:2526018|PMID:25448463|PMID:25637381|PMID:25741868|PMID:25873806|PMID:26467025|PMID:26498160|PMID:26662654|PMID:27000522|PMID:27153395|PMID:27447704|PMID:27532257|PMID:27896284|PMID:28087566|PMID:28492532|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28701371|PMID:28807990|PMID:29237675|PMID:29952368|PMID:30287275|PMID:30420677|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31383942|PMID:31447099|PMID:31744510|PMID:31836692|PMID:32041611|PMID:32818388|PMID:33407844 11845628 LMNA lamin A/C gene DOID:9352 type 2 diabetes mellitus ISO RGD:732790 D RGD:9068941 20200609 RGD DNA:SNPs PMID:17327437|REF_RGD_ID:1624985 11845628 LMNA lamin A/C gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:732790 D RGD:9068941 20200609 RGD DNA:SNPs PMID:17327461|REF_RGD_ID:1624984 11845628 LMNA lamin A/C gene DOID:9884 muscular dystrophy ISO RGD:732790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:10080180|PMID:10739764|PMID:10814726|PMID:10939567|PMID:11503164|PMID:11731280|PMID:11792809|PMID:11792810|PMID:12032588|PMID:12628721|PMID:12649505|PMID:12673789|PMID:12920062|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15148145|PMID:15372542|PMID:15744034|PMID:16218190|PMID:16386954|PMID:17136397|PMID:17377071|PMID:17967828|PMID:18035086|PMID:18035816|PMID:18396274|PMID:18414213|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18646565|PMID:19070492|PMID:19524666|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21173262|PMID:21179469|PMID:21520333|PMID:21632249|PMID:21818408|PMID:21840938|PMID:21970986|PMID:22326558|PMID:22883396|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23217256|PMID:23427149|PMID:23990565|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24990833|PMID:25210889|PMID:25343322|PMID:25741868|PMID:25948554|PMID:25987458|PMID:26098624|PMID:26443318|PMID:26467025|PMID:26575312|PMID:27034135|PMID:27220833|PMID:27461183|PMID:27673727|PMID:27708273|PMID:27854218|PMID:28492532|PMID:29057633|PMID:29693488|PMID:29895224|PMID:29907918|PMID:30055862|PMID:32571898|PMID:34008892|PMID:8619549|PMID:9106535 11845652 GNL3 G protein nucleolar 3 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1606313 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 11845652 GNL3 G protein nucleolar 3 gene DOID:630 genetic disease ISO RGD:1606313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845684 SF3B3 splicing factor 3b subunit 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1323197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11845684 SF3B3 splicing factor 3b subunit 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1323197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11845684 SF3B3 splicing factor 3b subunit 3 gene DOID:10283 prostate cancer ISO RGD:1323197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11845684 SF3B3 splicing factor 3b subunit 3 gene DOID:630 genetic disease ISO RGD:1323197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845714 AHDC1 AT-hook DNA binding motif containing 1 gene DOID:0050847 sleep apnea ISO RGD:1603658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sleep apnea syndrome PMID:23806086|PMID:24088041|PMID:24791903|PMID:25741868 11845714 AHDC1 AT-hook DNA binding motif containing 1 gene DOID:0050952 spastic ataxia ISO RGD:1603658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 11845714 AHDC1 AT-hook DNA binding motif containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1603658 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11845714 AHDC1 AT-hook DNA binding motif containing 1 gene DOID:0060612 abdominal obesity-metabolic syndrome 3 ISO RGD:1603658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 PMID:25741868|PMID:29696776|PMID:33644933 11845714 AHDC1 AT-hook DNA binding motif containing 1 gene DOID:0070055 Xia-Gibbs syndrome ISO RGD:1603658 D RGD:7240710 20180130 OMIM 11845714 AHDC1 AT-hook DNA binding motif containing 1 gene DOID:0070055 Xia-Gibbs syndrome ISO RGD:1603658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | ClinVar Annotator: match by term: Xia-Gibbs syndrome PMID:23806086|PMID:24088041|PMID:24791903|PMID:25741868|PMID:25741869|PMID:27148574|PMID:28135719|PMID:28492532|PMID:29230160|PMID:29696776|PMID:30152016|PMID:30858058|PMID:31474318|PMID:33372375|PMID:33644933|PMID:35716097|PMID:4067559 11845714 AHDC1 AT-hook DNA binding motif containing 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1603658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 11845714 AHDC1 AT-hook DNA binding motif containing 1 gene DOID:1059 intellectual disability ISO RGD:1603658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23806086|PMID:24088041|PMID:24791903|PMID:25741868|PMID:28492532 11845714 AHDC1 AT-hook DNA binding motif containing 1 gene DOID:630 genetic disease ISO RGD:1603658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24791903|PMID:25741868|PMID:27148574|PMID:28135719|PMID:28492532|PMID:28518168|PMID:29696776|PMID:30152016|PMID:30729726|PMID:32461654|PMID:33644933|PMID:35716097 11845714 AHDC1 AT-hook DNA binding motif containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603658 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868|PMID:28492532 11845714 AHDC1 AT-hook DNA binding motif containing 1 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1603658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 11845714 AHDC1 AT-hook DNA binding motif containing 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1603658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:23806086|PMID:24088041|PMID:24791903|PMID:25741868 11845714 AHDC1 AT-hook DNA binding motif containing 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1603658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:23806086|PMID:24088041|PMID:24791903|PMID:25741868 11845726 SRXN1 sulfiredoxin 1 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:1316466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:20206331|PMID:22824638|PMID:24239381|PMID:25462087|PMID:28492532 11845726 SRXN1 sulfiredoxin 1 gene DOID:630 genetic disease ISO RGD:1316466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845726 SRXN1 sulfiredoxin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11845726 SRXN1 sulfiredoxin 1 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:1316466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency PMID:28492532 11845731 TANGO2 transport and golgi organization 2 homolog gene DOID:0050473 Alstrom syndrome ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:25741868|PMID:28492532 11845731 TANGO2 transport and golgi organization 2 homolog gene DOID:0060041 autism spectrum disorder ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11845731 TANGO2 transport and golgi organization 2 homolog gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1606461 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 11845731 TANGO2 transport and golgi organization 2 homolog gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1606461 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 11845731 TANGO2 transport and golgi organization 2 homolog gene DOID:0111996 immunodeficiency 51 ISO RGD:1606461 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11845731 TANGO2 transport and golgi organization 2 homolog gene DOID:1059 intellectual disability ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:16199547|PMID:25741868|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29369572|PMID:30650451|PMID:32576985 11845731 TANGO2 transport and golgi organization 2 homolog gene DOID:11198 DiGeorge syndrome ISO RGD:1606461 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 11845731 TANGO2 transport and golgi organization 2 homolog gene DOID:11372 megacolon ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11845731 TANGO2 transport and golgi organization 2 homolog gene DOID:12583 velocardiofacial syndrome ISO RGD:1606461 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 11845731 TANGO2 transport and golgi organization 2 homolog gene DOID:12849 autistic disorder ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11845731 TANGO2 transport and golgi organization 2 homolog gene DOID:1826 epilepsy ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:16199547|PMID:25741868|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29369572|PMID:30650451|PMID:32576985 11845731 TANGO2 transport and golgi organization 2 homolog gene DOID:2213 hemorrhagic disease ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 11845731 TANGO2 transport and golgi organization 2 homolog gene DOID:5419 schizophrenia ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11845731 TANGO2 transport and golgi organization 2 homolog gene DOID:612 primary immunodeficiency disease ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11845731 TANGO2 transport and golgi organization 2 homolog gene DOID:630 genetic disease ISO RGD:1606461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26805781|PMID:28492532 11845731 TANGO2 transport and golgi organization 2 homolog gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:16199547|PMID:25741868|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29369572|PMID:30650451|PMID:32576985 11845731 TANGO2 transport and golgi organization 2 homolog gene DOID:9003871 Venous Thrombosis ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 11845731 TANGO2 transport and golgi organization 2 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11845731 TANGO2 transport and golgi organization 2 homolog gene DOID:9005324 Recurrent Metabolic Encephalomyopathic Crises with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration ISO RGD:1606461 D RGD:7240710 20190315 OMIM 11845731 TANGO2 transport and golgi organization 2 homolog gene DOID:9005324 Recurrent Metabolic Encephalomyopathic Crises with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration ISO RGD:1606461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION | ClinVar Annotator: match by term: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:26805781|PMID:26805782|PMID:27711071|PMID:28492532|PMID:29369572|PMID:30245509|PMID:30650451|PMID:31276219|PMID:31339582|PMID:32573669|PMID:32576985|PMID:32929747|PMID:9536098 11845731 TANGO2 transport and golgi organization 2 homolog gene DOID:9007661 Dwarfism ISO RGD:1606461 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11845731 TANGO2 transport and golgi organization 2 homolog gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1606461 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11845731 TANGO2 transport and golgi organization 2 homolog gene DOID:963 episodic ataxia ISO RGD:1606461 D RGD:8554872 20220628 ClinVar ClinVar Annotator: match by term: Hereditary episodic ataxia PMID:32581362 11845765 RPA2 replication protein A2 gene DOID:630 genetic disease ISO RGD:1344829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845778 TRIM29 tripartite motif containing 29 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1317296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 11845778 TRIM29 tripartite motif containing 29 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1317296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11845778 TRIM29 tripartite motif containing 29 gene DOID:0080690 RASopathy ISO RGD:1317296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11845778 TRIM29 tripartite motif containing 29 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1317296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 11845778 TRIM29 tripartite motif containing 29 gene DOID:0111971 immunodeficiency 18 ISO RGD:1317296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 11845778 TRIM29 tripartite motif containing 29 gene DOID:0111972 immunodeficiency 19 ISO RGD:1317296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 11845778 TRIM29 tripartite motif containing 29 gene DOID:0111973 immunodeficiency 17 ISO RGD:1317296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 11845778 TRIM29 tripartite motif containing 29 gene DOID:3070 high grade glioma ISO RGD:1317296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30929997 11845778 TRIM29 tripartite motif containing 29 gene DOID:5419 schizophrenia ISO RGD:1317296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11845778 TRIM29 tripartite motif containing 29 gene DOID:630 genetic disease ISO RGD:1317296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845778 TRIM29 tripartite motif containing 29 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1317296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11845778 TRIM29 tripartite motif containing 29 gene DOID:9007661 Dwarfism ISO RGD:1317296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11845792 LOC100986069 olfactory receptor 5L2 gene DOID:1059 intellectual disability ISO RGD:1342923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11845792 LOC100986069 olfactory receptor 5L2 gene DOID:630 genetic disease ISO RGD:1342923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845798 ETAA1 ETAA1 activator of ATR kinase gene DOID:1793 pancreatic cancer ISO RGD:1604009 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098869 11845798 ETAA1 ETAA1 activator of ATR kinase gene DOID:630 genetic disease ISO RGD:1604009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845808 TM4SF1 transmembrane 4 L six family member 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:1320105 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 11845808 TM4SF1 transmembrane 4 L six family member 1 gene DOID:630 genetic disease ISO RGD:1320105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845820 PDE2A phosphodiesterase 2A gene DOID:0050700 cardiomyopathy ISO RGD:620965 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis;mRNA:increased expression:cardiac myocyte: PMID:19003918|REF_RGD_ID:10449440 11845820 PDE2A phosphodiesterase 2A gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:730957 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11845820 PDE2A phosphodiesterase 2A gene DOID:1059 intellectual disability ISO RGD:730957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate PMID:25741868|PMID:32467598 11845820 PDE2A phosphodiesterase 2A gene DOID:10652 Alzheimer's disease treatment ISO RGD:737365 D RGD:9068941 20200609 RGD PMID:22771768|REF_RGD_ID:10449025 11845820 PDE2A phosphodiesterase 2A gene DOID:12859 choreatic disease ISO RGD:730957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Choreatic disease PMID:25741868|PMID:32467598 11845820 PDE2A phosphodiesterase 2A gene DOID:543 dystonia ISO RGD:730957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal dystonia PMID:25741868|PMID:32467598 11845820 PDE2A phosphodiesterase 2A gene DOID:630 genetic disease ISO RGD:730957 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11845820 PDE2A phosphodiesterase 2A gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:620965 D RGD:9068941 20200609 RGD PMID:12834273|REF_RGD_ID:2312523 11845820 PDE2A phosphodiesterase 2A gene DOID:9005603 Muscle Hypotonia ISO RGD:730957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:32467598 11845820 PDE2A phosphodiesterase 2A gene DOID:9007371 INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES ISO RGD:730957 D RGD:7240710 20210217 OMIM 11845820 PDE2A phosphodiesterase 2A gene DOID:9007371 INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES ISO RGD:730957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with paroxysmal dyskinesia or seizures PMID:25741868|PMID:28492532|PMID:29392776|PMID:32196122|PMID:32467598 11845820 PDE2A phosphodiesterase 2A gene DOID:9008939 Breast Neoplasms ISO RGD:730957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12972520 11845867 ANKRD31 ankyrin repeat domain 31 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1354086 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 11845867 ANKRD31 ankyrin repeat domain 31 gene DOID:2843 long QT syndrome ISO RGD:1354086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11845867 ANKRD31 ankyrin repeat domain 31 gene DOID:3323 Sandhoff disease ISO RGD:1354086 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 11845867 ANKRD31 ankyrin repeat domain 31 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1354086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 11845867 ANKRD31 ankyrin repeat domain 31 gene DOID:630 genetic disease ISO RGD:1354086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11845867 ANKRD31 ankyrin repeat domain 31 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11845896 IGFBP6 insulin like growth factor binding protein 6 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 11845896 IGFBP6 insulin like growth factor binding protein 6 gene DOID:127 leiomyoma ISO RGD:735616 D RGD:9068941 20200609 RGD uterine leiomyoma; mRNA:decreased expression:tumor:versus adjacent normal myometrium, by microarray PMID:15705628|REF_RGD_ID:2301708 11845896 IGFBP6 insulin like growth factor binding protein 6 gene DOID:1612 breast cancer ISO RGD:735616 D RGD:9068941 20200609 RGD protein:decreased expression:serum:in patients with breast cancer versus benign breast disease (p=0.016) PMID:10069662|REF_RGD_ID:2301715 11845896 IGFBP6 insulin like growth factor binding protein 6 gene DOID:1612 breast cancer no_association ISO RGD:735616 D RGD:9068941 20200609 RGD lower serum expression in cases vs controls but association not significant in multivariate analysis PMID:17287408|REF_RGD_ID:2301716 11845896 IGFBP6 insulin like growth factor binding protein 6 gene DOID:2773 contact dermatitis ISO RGD:735616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11845896 IGFBP6 insulin like growth factor binding protein 6 gene DOID:289 endometriosis ISO RGD:735616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 11845896 IGFBP6 insulin like growth factor binding protein 6 gene DOID:630 genetic disease ISO RGD:735616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845896 IGFBP6 insulin like growth factor binding protein 6 gene DOID:8719 in situ carcinoma ISO RGD:735616 D RGD:9068941 20200609 RGD testicular CIS; mRNA:increased expression:tumor PMID:15123780|REF_RGD_ID:2301712 11845896 IGFBP6 insulin like growth factor binding protein 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735616 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15846301 11845896 IGFBP6 insulin like growth factor binding protein 6 gene DOID:9003281 Spontaneous Abortions ISO RGD:735616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11845896 IGFBP6 insulin like growth factor binding protein 6 gene DOID:9007692 Insulin Resistance ISO RGD:735616 D RGD:9068941 20200609 RGD human transgene overexpressed in mouse brain PMID:15889232|REF_RGD_ID:2301717 11845896 IGFBP6 insulin like growth factor binding protein 6 gene DOID:9719 neovascular inflammatory vitreoretinopathy severity ISO RGD:735616 D RGD:9068941 20200609 RGD protein:increased expression:vitreous,serum: PMID:23808406|REF_RGD_ID:10411880 11845896 IGFBP6 insulin like growth factor binding protein 6 gene DOID:9970 obesity ISO RGD:735616 D RGD:9068941 20200609 RGD human transgene overexpressed in mouse brain PMID:15889232|REF_RGD_ID:2301717 11845904 NOTO notochord homeobox gene DOID:0050473 Alstrom syndrome ISO RGD:1348141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 11845904 NOTO notochord homeobox gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1348141 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11845904 NOTO notochord homeobox gene DOID:543 dystonia ISO RGD:1348141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11845904 NOTO notochord homeobox gene DOID:630 genetic disease ISO RGD:1348141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845904 NOTO notochord homeobox gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1348141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11845912 DIDO1 death inducer-obliterator 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1322490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11845912 DIDO1 death inducer-obliterator 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1322490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11845912 DIDO1 death inducer-obliterator 1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1322490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11845912 DIDO1 death inducer-obliterator 1 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1322490 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11845912 DIDO1 death inducer-obliterator 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1322490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11845912 DIDO1 death inducer-obliterator 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1322490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 11845912 DIDO1 death inducer-obliterator 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1322490 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30431698 11845912 DIDO1 death inducer-obliterator 1 gene DOID:4972 myelodysplastic/myeloproliferative neoplasm ISO RGD:30309588 D RGD:9068941 20220825 MouseDO 11845912 DIDO1 death inducer-obliterator 1 gene DOID:630 genetic disease ISO RGD:1322490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845945 MLLT3 MLLT3 super elongation complex subunit gene DOID:630 genetic disease ISO RGD:737507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845945 MLLT3 MLLT3 super elongation complex subunit gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:620940 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23077601|REF_RGD_ID:9686143 11845961 OXSR1 oxidative stress responsive kinase 1 gene DOID:0050451 Brugada syndrome ISO RGD:1351310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 11845961 OXSR1 oxidative stress responsive kinase 1 gene DOID:10763 hypertension ISO RGD:1351310 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22949526 11845961 OXSR1 oxidative stress responsive kinase 1 gene DOID:630 genetic disease ISO RGD:1351310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11845961 OXSR1 oxidative stress responsive kinase 1 gene DOID:9001436 Immunodeficiency 68 ISO RGD:1351310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY PMID:28492532 11845961 OXSR1 oxidative stress responsive kinase 1 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1351310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 11845990 LOC100996106 putative olfactory receptor 10D3 gene DOID:5419 schizophrenia ISO RGD:1354061 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11846015 CTC1 CST telomere replication complex component 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1604790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 11846015 CTC1 CST telomere replication complex component 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1604790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11846015 CTC1 CST telomere replication complex component 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1604790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11846015 CTC1 CST telomere replication complex component 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1604790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22431104|PMID:23172776|PMID:28492532 11846015 CTC1 CST telomere replication complex component 1 gene DOID:182 calcinosis ISO RGD:1604790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22267198 11846015 CTC1 CST telomere replication complex component 1 gene DOID:2493 gastric antral vascular ectasia ISO RGD:1604790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22267198 11846015 CTC1 CST telomere replication complex component 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1604790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:16199547|PMID:16943371|PMID:17576681|PMID:18076099|PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22532422|PMID:22899577|PMID:23172776|PMID:23220793|PMID:23869908|PMID:24033266|PMID:24115768|PMID:25182133|PMID:25197929|PMID:25741868|PMID:25843205|PMID:28135719|PMID:28492532|PMID:29111009|PMID:29146883|PMID:29228254|PMID:29481669|PMID:30393977|PMID:30523342|PMID:30891747|PMID:30995915|PMID:31785789|PMID:34573280|PMID:34706368|PMID:9536098 11846015 CTC1 CST telomere replication complex component 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1604790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 11846015 CTC1 CST telomere replication complex component 1 gene DOID:630 genetic disease ISO RGD:1604790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:18076099|PMID:22267198|PMID:22387016|PMID:22532422|PMID:22899577|PMID:23869908|PMID:25741868|PMID:28492532|PMID:30891747 11846015 CTC1 CST telomere replication complex component 1 gene DOID:7736 retinal telangiectasia ISO RGD:1604790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22267198 11846015 CTC1 CST telomere replication complex component 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1604790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22267198 11846015 CTC1 CST telomere replication complex component 1 gene DOID:9003025 Cerebroretinal Microangiopathy with Calcifications and Cysts ISO RGD:1604790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Coats plus syndrome PMID:22267198|PMID:22387016|PMID:23220793|PMID:23869908|PMID:24033266|PMID:25182133|PMID:25741868|PMID:28492532|PMID:30891747 11846015 CTC1 CST telomere replication complex component 1 gene DOID:9003371 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 ISO RGD:1604790 D RGD:7240710 20190501 OMIM 11846015 CTC1 CST telomere replication complex component 1 gene DOID:9003371 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 ISO RGD:1604790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 PMID:16199547|PMID:16943371|PMID:18076099|PMID:22267198|PMID:22387016|PMID:22532422|PMID:22899577|PMID:23869908|PMID:24033266|PMID:24115768|PMID:25182133|PMID:25197929|PMID:25741868|PMID:25843205|PMID:28492532|PMID:28864049|PMID:29111009|PMID:29146883|PMID:29228254|PMID:29481669|PMID:30523342|PMID:30891747|PMID:34573280 11846015 CTC1 CST telomere replication complex component 1 gene DOID:9004373 Autosomal Recessive Dyskeratosis Congenita ISO RGD:1604790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive 11846015 CTC1 CST telomere replication complex component 1 gene DOID:936 brain disease ISO RGD:1604790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22267198 11846060 LOC100968217 collagen alpha-6(VI) chain gene DOID:0111947 immunodeficiency 21 ISO RGD:3052729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 11846060 LOC100968217 collagen alpha-6(VI) chain gene DOID:630 genetic disease ISO RGD:3052729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11846060 LOC100968217 collagen alpha-6(VI) chain gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:3052729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868|PMID:28492532 11846060 LOC100968217 collagen alpha-6(VI) chain gene DOID:9270 alkaptonuria ISO RGD:3052729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11846100 RASA4 RAS p21 protein activator 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319785 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11846100 RASA4 RAS p21 protein activator 4 gene DOID:630 genetic disease ISO RGD:1319785 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11846101 LOC100974797 X antigen family member 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11846101 LOC100974797 X antigen family member 2 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1350959 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 11846101 LOC100974797 X antigen family member 2 gene DOID:12849 autistic disorder ISO RGD:1350959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11846110 SYAP1 synapse associated protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11846110 SYAP1 synapse associated protein 1 gene DOID:12849 autistic disorder ISO RGD:1353710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11846110 SYAP1 synapse associated protein 1 gene DOID:630 genetic disease ISO RGD:1353710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11846110 SYAP1 synapse associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11846123 DDX46 DEAD-box helicase 46 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:734266 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11846123 DDX46 DEAD-box helicase 46 gene DOID:12849 autistic disorder ISO RGD:734266 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 11846123 DDX46 DEAD-box helicase 46 gene DOID:630 genetic disease ISO RGD:734266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11846123 DDX46 DEAD-box helicase 46 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11846123 DDX46 DEAD-box helicase 46 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734266 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11846154 GRK7 G protein-coupled receptor kinase 7 gene DOID:630 genetic disease ISO RGD:1347561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11846170 RHOT1 ras homolog family member T1 gene DOID:231 motor neuron disease ISO RGD:1315970 D RGD:9068941 20220825 MouseDO 11846170 RHOT1 ras homolog family member T1 gene DOID:630 genetic disease ISO RGD:1315969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11846209 FBH1 F-box DNA helicase 1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1314839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11846209 FBH1 F-box DNA helicase 1 gene DOID:10283 prostate cancer ISO RGD:1314839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11846209 FBH1 F-box DNA helicase 1 gene DOID:5419 schizophrenia ISO RGD:1314839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11846209 FBH1 F-box DNA helicase 1 gene DOID:630 genetic disease ISO RGD:1314839 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11846246 HDGF heparin binding growth factor gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:735331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11846246 HDGF heparin binding growth factor gene DOID:0111940 immunodeficiency 42 ISO RGD:735331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11846246 HDGF heparin binding growth factor gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:735331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11846246 HDGF heparin binding growth factor gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:735331 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11846246 HDGF heparin binding growth factor gene DOID:1540 parathyroid carcinoma ISO RGD:735331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11846246 HDGF heparin binding growth factor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11846246 HDGF heparin binding growth factor gene DOID:5812 MHC class II deficiency ISO RGD:735331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11846246 HDGF heparin binding growth factor gene DOID:630 genetic disease ISO RGD:735331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11846246 HDGF heparin binding growth factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11846268 ABHD15 abhydrolase domain containing 15 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1605591 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 11846268 ABHD15 abhydrolase domain containing 15 gene DOID:630 genetic disease ISO RGD:1605591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11846274 PTH parathyroid hormone gene DOID:0050459 hyperphosphatemia ISO RGD:3440 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:23548309|REF_RGD_ID:7242565 11846274 PTH parathyroid hormone gene DOID:0050459 hyperphosphatemia ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12399635 11846274 PTH parathyroid hormone gene DOID:0050459 hyperphosphatemia ISO RGD:69107 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:23211335|REF_RGD_ID:7242693 11846274 PTH parathyroid hormone gene DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria ISO RGD:11186 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (mouse) PMID:19570882|REF_RGD_ID:7242924 11846274 PTH parathyroid hormone gene DOID:0060224 atrial fibrillation ISO RGD:69107 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23460043|REF_RGD_ID:7242420 11846274 PTH parathyroid hormone gene DOID:0080011 bone resorption disease ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9881647 11846274 PTH parathyroid hormone gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:69107 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:23470222|REF_RGD_ID:7242417 11846274 PTH parathyroid hormone gene DOID:0090109 autosomal dominant hypocalcemia ISO RGD:3440 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:22581996|REF_RGD_ID:7242904 11846274 PTH parathyroid hormone gene DOID:0111387 familial isolated hypoparathyroidism ISO RGD:69107 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial isolated hypoparathyroidism PMID:1302009|PMID:1425431|PMID:18784115|PMID:24033266|PMID:25741868|PMID:28492532 11846274 PTH parathyroid hormone gene DOID:1059 intellectual disability ISO RGD:69107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11846274 PTH parathyroid hormone gene DOID:10609 rickets ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10375030 11846274 PTH parathyroid hormone gene DOID:10754 otitis media ISO RGD:69107 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23543299|REF_RGD_ID:7242409 11846274 PTH parathyroid hormone gene DOID:10763 hypertension ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1930854 11846274 PTH parathyroid hormone gene DOID:10763 hypertension ISO RGD:69107 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23460043|REF_RGD_ID:7242420 11846274 PTH parathyroid hormone gene DOID:11202 primary hyperparathyroidism ISO RGD:69107 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Primary hyperparathyroidism PMID:1425431|PMID:18784115|PMID:25741868 11846274 PTH parathyroid hormone gene DOID:11476 osteoporosis ISO RGD:3440 D RGD:9068941 20200609 RGD protein:decreased expression:serum (rat) PMID:22312238|REF_RGD_ID:7242907 11846274 PTH parathyroid hormone gene DOID:11476 osteoporosis ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15710971|PMID:17317460|PMID:17882678|PMID:19578808|PMID:21306167|PMID:30639440 11846274 PTH parathyroid hormone gene DOID:11476 osteoporosis treatment ISO RGD:3440 D RGD:9068941 20200609 RGD PMID:23161222|REF_RGD_ID:7242793 11846274 PTH parathyroid hormone gene DOID:12466 secondary hyperparathyroidism ISO RGD:3440 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:23499504|REF_RGD_ID:7242414 11846274 PTH parathyroid hormone gene DOID:12466 secondary hyperparathyroidism ISO RGD:3440 D RGD:9068941 20200609 RGD associated with Uremia PMID:21335517|REF_RGD_ID:5135046 11846274 PTH parathyroid hormone gene DOID:12466 secondary hyperparathyroidism ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21350317|PMID:22118402|PMID:22373954 11846274 PTH parathyroid hormone gene DOID:12466 secondary hyperparathyroidism ISO RGD:69107 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; DNA:snp:exon:g.350C>A (rs6256) (human) PMID:12046039|REF_RGD_ID:7242750 11846274 PTH parathyroid hormone gene DOID:12466 secondary hyperparathyroidism ISO RGD:69107 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human) PMID:23121374|REF_RGD_ID:7242728 11846274 PTH parathyroid hormone gene DOID:12466 secondary hyperparathyroidism treatment ISO RGD:69107 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:23529273|REF_RGD_ID:7242411 11846274 PTH parathyroid hormone gene DOID:12678 hypercalcemia ISO RGD:3440 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:23261531|REF_RGD_ID:7242689 11846274 PTH parathyroid hormone gene DOID:12678 hypercalcemia ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10638776|PMID:12399635|PMID:17164314|PMID:4004906|PMID:7891547|PMID:9382671 11846274 PTH parathyroid hormone gene DOID:12679 nephrocalcinosis ISO RGD:3440 D RGD:9068941 20200609 RGD PMID:23344571|REF_RGD_ID:7242573 11846274 PTH parathyroid hormone gene DOID:13068 renal osteodystrophy ISO RGD:69107 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic; protein:decreased expression:serum (human) PMID:18480316|REF_RGD_ID:7242687 11846274 PTH parathyroid hormone gene DOID:205 hyperostosis ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25289773 11846274 PTH parathyroid hormone gene DOID:2355 anemia ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15354979|PMID:19578808 11846274 PTH parathyroid hormone gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24803734 11846274 PTH parathyroid hormone gene DOID:3347 osteosarcoma ISO RGD:69107 D RGD:9068941 20200609 RGD human protein in rat model PMID:22688001|REF_RGD_ID:7242897 11846274 PTH parathyroid hormone gene DOID:3393 coronary artery disease ISO RGD:69107 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23460043|REF_RGD_ID:7242420 11846274 PTH parathyroid hormone gene DOID:4676 uremia ISO RGD:3440 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:serum (rat) PMID:22902873|REF_RGD_ID:7242742 11846274 PTH parathyroid hormone gene DOID:4676 uremia ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2051637 11846274 PTH parathyroid hormone gene DOID:6000 congestive heart failure ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17162251 11846274 PTH parathyroid hormone gene DOID:6000 congestive heart failure ISO RGD:69107 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21939825|REF_RGD_ID:7242422 11846274 PTH parathyroid hormone gene DOID:630 genetic disease ISO RGD:69107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11846274 PTH parathyroid hormone gene DOID:783 end stage renal disease ISO RGD:3440 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:23548814|REF_RGD_ID:7242564 11846274 PTH parathyroid hormone gene DOID:783 end stage renal disease severity ISO RGD:69107 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23243213|REF_RGD_ID:7242692 11846274 PTH parathyroid hormone gene DOID:784 chronic kidney disease ISO RGD:3440 D RGD:9068941 20200609 RGD PMID:22517117|REF_RGD_ID:7242949 11846274 PTH parathyroid hormone gene DOID:784 chronic kidney disease ISO RGD:3440 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (rat) PMID:21826734|REF_RGD_ID:7242935 11846274 PTH parathyroid hormone gene DOID:784 chronic kidney disease severity ISO RGD:69107 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; protein:increased expression:serum (human) PMID:23528898|REF_RGD_ID:7242412 11846274 PTH parathyroid hormone gene DOID:784 chronic kidney disease treatment ISO RGD:11186 D RGD:9068941 20200609 RGD PMID:23345625|REF_RGD_ID:7242572 11846274 PTH parathyroid hormone gene DOID:784 chronic kidney disease treatment ISO RGD:69107 D RGD:9068941 20200609 RGD PMID:23467111|REF_RGD_ID:7242418 11846274 PTH parathyroid hormone gene DOID:7998 hyperthyroidism ISO RGD:69107 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Primary hyperthyroidism PMID:1425431|PMID:18784115|PMID:25741868 11846274 PTH parathyroid hormone gene DOID:8929 atrophic gastritis ISO RGD:69107 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23447517|REF_RGD_ID:7242421 11846274 PTH parathyroid hormone gene DOID:9000492 Familial Isolated Hypoparathyroidism 1 ISO RGD:69107 D RGD:7240710 20200520 OMIM 11846274 PTH parathyroid hormone gene DOID:9000492 Familial Isolated Hypoparathyroidism 1 ISO RGD:69107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, familial isolated 1 PMID:10523031|PMID:18056632|PMID:2212001|PMID:24033266|PMID:25741868|PMID:28492532|PMID:3005800 11846274 PTH parathyroid hormone gene DOID:9001542 Albuminuria ISO RGD:69107 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human) PMID:23066118|REF_RGD_ID:7242730 11846274 PTH parathyroid hormone gene DOID:9001547 Tibial Fractures ISO RGD:69107 D RGD:9068941 20200609 RGD human protein in rat model PMID:23585311|REF_RGD_ID:7242790 11846274 PTH parathyroid hormone gene DOID:9001738 Hypercalciuria ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17164314 11846274 PTH parathyroid hormone gene DOID:9002165 Diabetic Nephropathies ISO RGD:69107 D RGD:9068941 20200609 RGD DNA:snps:exon, intron:g.350C>A, g.IVS2+56G>A (rs6256, rs6254) (human) PMID:22777106|REF_RGD_ID:7242744 11846274 PTH parathyroid hormone gene DOID:9002589 Bone Fractures ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16094769 11846274 PTH parathyroid hormone gene DOID:9002589 Bone Fractures ISO RGD:69107 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human) PMID:23043229|REF_RGD_ID:7242731 11846274 PTH parathyroid hormone gene DOID:9004331 Parathyroid Neoplasms ISO RGD:69107 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23534747|REF_RGD_ID:7242410 11846274 PTH parathyroid hormone gene DOID:9004397 calcification of aortic valve disease_progression ISO RGD:3440 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:22634235|REF_RGD_ID:7242900 11846274 PTH parathyroid hormone gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:69107 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human) PMID:23168286|REF_RGD_ID:7242699 11846274 PTH parathyroid hormone gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:69107 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:22647434|REF_RGD_ID:7242899 11846274 PTH parathyroid hormone gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20567999 11846274 PTH parathyroid hormone gene DOID:9005354 Hypoparathyroidism, Autosomal Recessive ISO RGD:69107 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS2+1G>C (human) PMID:1302009|REF_RGD_ID:1598943 11846274 PTH parathyroid hormone gene DOID:9006205 Animal Disease Models ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30639440 11846274 PTH parathyroid hormone gene DOID:9006332 Vascular Calcification ISO RGD:3440 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:23486515|REF_RGD_ID:7242416 11846274 PTH parathyroid hormone gene DOID:9006332 Vascular Calcification disease_progression ISO RGD:3440 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:22634235|REF_RGD_ID:7242900 11846274 PTH parathyroid hormone gene DOID:9006849 Phosphaturia ISO RGD:3440 D RGD:9068941 20200609 RGD protein:decreased expression:serum (rat) PMID:22859939|REF_RGD_ID:8655928 11846274 PTH parathyroid hormone gene DOID:9007096 Stroke ISO RGD:69107 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23460043|REF_RGD_ID:7242420 11846274 PTH parathyroid hormone gene DOID:9007819 Endocrine Bone Diseases ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18635661 11846274 PTH parathyroid hormone gene DOID:9009050 Hypocalcemia ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11701698|PMID:11770836 11846274 PTH parathyroid hormone gene DOID:9352 type 2 diabetes mellitus ISO RGD:69107 D RGD:9068941 20200609 RGD DNA:snp:exon:g.350C>A rs6256 (human) PMID:22777106|REF_RGD_ID:7242744 11846274 PTH parathyroid hormone gene DOID:9744 type 1 diabetes mellitus ISO RGD:69107 D RGD:9068941 20200609 RGD DNA:snp:exon:g.350C>A rs6256 (human) PMID:22777106|REF_RGD_ID:7242744 11846281 TMIGD1 transmembrane and immunoglobulin domain containing 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1604448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 11846281 TMIGD1 transmembrane and immunoglobulin domain containing 1 gene DOID:630 genetic disease ISO RGD:1604448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11846296 ISG20L2 interferon stimulated exonuclease gene 20 like 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1601738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11846296 ISG20L2 interferon stimulated exonuclease gene 20 like 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1601738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11846296 ISG20L2 interferon stimulated exonuclease gene 20 like 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1601738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11846296 ISG20L2 interferon stimulated exonuclease gene 20 like 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1601738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11846296 ISG20L2 interferon stimulated exonuclease gene 20 like 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1601738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11846296 ISG20L2 interferon stimulated exonuclease gene 20 like 2 gene DOID:5812 MHC class II deficiency ISO RGD:1601738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11846296 ISG20L2 interferon stimulated exonuclease gene 20 like 2 gene DOID:630 genetic disease ISO RGD:1601738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11846296 ISG20L2 interferon stimulated exonuclease gene 20 like 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11846316 DCBLD1 discoidin, CUB and LCCL domain containing 1 gene DOID:0060163 body dysmorphic disorder ISO RGD:1353460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 11846316 DCBLD1 discoidin, CUB and LCCL domain containing 1 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1353460 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 11846316 DCBLD1 discoidin, CUB and LCCL domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1353460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 11846316 DCBLD1 discoidin, CUB and LCCL domain containing 1 gene DOID:10907 microcephaly ISO RGD:1353460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 11846316 DCBLD1 discoidin, CUB and LCCL domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1353460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:24824130 11846316 DCBLD1 discoidin, CUB and LCCL domain containing 1 gene DOID:1826 epilepsy ISO RGD:1353460 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11846316 DCBLD1 discoidin, CUB and LCCL domain containing 1 gene DOID:1909 melanoma ISO RGD:1353460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11846316 DCBLD1 discoidin, CUB and LCCL domain containing 1 gene DOID:630 genetic disease ISO RGD:1353460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11846316 DCBLD1 discoidin, CUB and LCCL domain containing 1 gene DOID:9000495 Tremor ISO RGD:1353460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 11846335 MFSD14A major facilitator superfamily domain containing 14A gene DOID:630 genetic disease ISO RGD:1313218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11846335 MFSD14A major facilitator superfamily domain containing 14A gene DOID:9269 maple syrup urine disease ISO RGD:1313218 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 11846355 ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 gene DOID:10283 prostate cancer ISO RGD:1342953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11846355 ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 gene DOID:630 genetic disease ISO RGD:1342953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11846355 ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1342953 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 11846365 HEATR4 HEAT repeat containing 4 gene DOID:0080600 COVID-19 ISO RGD:1602622 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11846365 HEATR4 HEAT repeat containing 4 gene DOID:1059 intellectual disability ISO RGD:1602622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild 11846365 HEATR4 HEAT repeat containing 4 gene DOID:630 genetic disease ISO RGD:1602622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11846365 HEATR4 HEAT repeat containing 4 gene DOID:9005603 Muscle Hypotonia ISO RGD:1602622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia 11846391 SRPK3 SRSF protein kinase 3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1349288 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11846391 SRPK3 SRSF protein kinase 3 gene DOID:0050476 Barth syndrome ISO RGD:1349288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11846391 SRPK3 SRSF protein kinase 3 gene DOID:0050800 creatine transporter deficiency ISO RGD:1349288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 11846391 SRPK3 SRSF protein kinase 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11846391 SRPK3 SRSF protein kinase 3 gene DOID:0080574 congenital disorder of glycosylation Iy ISO RGD:1349288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y 11846391 SRPK3 SRSF protein kinase 3 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349288 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 11846391 SRPK3 SRSF protein kinase 3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1349288 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11846391 SRPK3 SRSF protein kinase 3 gene DOID:10588 adrenoleukodystrophy ISO RGD:1349288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11846391 SRPK3 SRSF protein kinase 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11846391 SRPK3 SRSF protein kinase 3 gene DOID:12849 autistic disorder ISO RGD:1349288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11846391 SRPK3 SRSF protein kinase 3 gene DOID:13628 favism ISO RGD:1349288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11846391 SRPK3 SRSF protein kinase 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1349288 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11846391 SRPK3 SRSF protein kinase 3 gene DOID:607 paraplegia ISO RGD:1349288 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11846391 SRPK3 SRSF protein kinase 3 gene DOID:630 genetic disease ISO RGD:1349288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11846391 SRPK3 SRSF protein kinase 3 gene DOID:9002720 Splenomegaly ISO RGD:1349288 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11846422 RGR retinal G protein coupled receptor gene DOID:0050795 cone dystrophy ISO RGD:1319366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:10581022|PMID:25741868|PMID:27623334|PMID:28492532|PMID:30337596|PMID:34229535 11846422 RGR retinal G protein coupled receptor gene DOID:0110394 retinitis pigmentosa 44 ISO RGD:1319366 D RGD:7240710 20180130 OMIM 11846422 RGR retinal G protein coupled receptor gene DOID:0110394 retinitis pigmentosa 44 ISO RGD:1319366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 44 PMID:10581022|PMID:17576681|PMID:25741868|PMID:27623334|PMID:27748892|PMID:28041643|PMID:28492532|PMID:28838317|PMID:30337596|PMID:30347075|PMID:33546218|PMID:34229535|PMID:9536098 11846422 RGR retinal G protein coupled receptor gene DOID:10584 retinitis pigmentosa ISO RGD:1319366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10581022|PMID:16199547|PMID:24265693|PMID:25741868|PMID:28492532 11846422 RGR retinal G protein coupled receptor gene DOID:630 genetic disease ISO RGD:1319366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11846422 RGR retinal G protein coupled receptor gene DOID:8501 fundus dystrophy ISO RGD:1319366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10581022|PMID:28041643 11846436 SCARF1 scavenger receptor class F member 1 gene DOID:630 genetic disease ISO RGD:1319619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11846454 CMSS1 cms1 ribosomal small subunit homolog gene DOID:630 genetic disease ISO RGD:1601841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11846483 DNAL4 dynein axonemal light chain 4 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1319248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11846483 DNAL4 dynein axonemal light chain 4 gene DOID:630 genetic disease ISO RGD:1319248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11846483 DNAL4 dynein axonemal light chain 4 gene DOID:9008815 Mirror Movements 3 ISO RGD:1319248 D RGD:7240710 20180130 OMIM 11846483 DNAL4 dynein axonemal light chain 4 gene DOID:9008815 Mirror Movements 3 ISO RGD:1319248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mirror movements 3 PMID:25098561 11846491 TRMT10B tRNA methyltransferase 10B gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1321812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11846491 TRMT10B tRNA methyltransferase 10B gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1321812 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11846491 TRMT10B tRNA methyltransferase 10B gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1321812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11846491 TRMT10B tRNA methyltransferase 10B gene DOID:630 genetic disease ISO RGD:1321812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11846491 TRMT10B tRNA methyltransferase 10B gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11846491 TRMT10B tRNA methyltransferase 10B gene DOID:9870 galactosemia ISO RGD:1321812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11846507 POLR3K RNA polymerase III subunit K gene DOID:630 genetic disease ISO RGD:1350025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11846507 POLR3K RNA polymerase III subunit K gene DOID:9000217 Stomach Neoplasms ISO RGD:1350025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11846507 POLR3K RNA polymerase III subunit K gene DOID:9000918 Disease Progression ISO RGD:1350025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11846507 POLR3K RNA polymerase III subunit K gene DOID:9004862 Hypomyelinating Leukodystrophy 21 ISO RGD:1350025 D RGD:7240710 20210526 OMIM 11846507 POLR3K RNA polymerase III subunit K gene DOID:9004862 Hypomyelinating Leukodystrophy 21 ISO RGD:1350025 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 21 PMID:25741868|PMID:30584594 11846514 GMPS guanine monophosphate synthase gene DOID:0081082 acute myelomonocytic leukemia ISO RGD:1320749 D RGD:9068941 20200609 RGD treatment-related acute type M4 myeloid leukemia; chromosomal translocation resulted in a fusion of MLL and GMPS genes PMID:11110714|REF_RGD_ID:1598998 11846514 GMPS guanine monophosphate synthase gene DOID:630 genetic disease ISO RGD:1320749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11846514 GMPS guanine monophosphate synthase gene DOID:684 hepatocellular carcinoma ISO RGD:1310063 D RGD:9068941 20200609 RGD protein:increased activity:hepatoma (rat) PMID:6861338|REF_RGD_ID:5135537 11846514 GMPS guanine monophosphate synthase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1310063 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:3043317|REF_RGD_ID:5135485 11846514 GMPS guanine monophosphate synthase gene DOID:9005715 Neoplasms, Second Primary ISO RGD:1320749 D RGD:9068941 20200609 RGD treatment-related acute type M4 myeloid leukemia; chromosomal translocation resulted in a fusion of MLL and GMPS genes PMID:11110714|REF_RGD_ID:1598998 11846535 ZNF750 zinc finger protein 750 gene DOID:630 genetic disease ISO RGD:1602862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11846535 ZNF750 zinc finger protein 750 gene DOID:9000707 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM ISO RGD:1602862 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum PMID:25741868 11846535 ZNF750 zinc finger protein 750 gene DOID:9001638 Seborrhea-Like Dermatitis with Psoriasiform Elements ISO RGD:1602862 D RGD:7240710 20180130 OMIM 11846535 ZNF750 zinc finger protein 750 gene DOID:9001638 Seborrhea-Like Dermatitis with Psoriasiform Elements ISO RGD:1602862 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seborrhea-like dermatitis with psoriasiform elements PMID:16751772|PMID:25741868 11846542 LRRC46 leucine rich repeat containing 46 gene DOID:630 genetic disease ISO RGD:1602198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11846542 LRRC46 leucine rich repeat containing 46 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1602198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043753 11846554 DSCAML1 DS cell adhesion molecule like 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1312583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 11846554 DSCAML1 DS cell adhesion molecule like 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1312583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11846554 DSCAML1 DS cell adhesion molecule like 1 gene DOID:0080690 RASopathy ISO RGD:1312583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11846554 DSCAML1 DS cell adhesion molecule like 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1312583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 11846554 DSCAML1 DS cell adhesion molecule like 1 gene DOID:0111123 nephronophthisis 15 ISO RGD:1312583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 11846554 DSCAML1 DS cell adhesion molecule like 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1312583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 11846554 DSCAML1 DS cell adhesion molecule like 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1312583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 11846554 DSCAML1 DS cell adhesion molecule like 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1312583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 11846554 DSCAML1 DS cell adhesion molecule like 1 gene DOID:10283 prostate cancer ISO RGD:1312583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11846554 DSCAML1 DS cell adhesion molecule like 1 gene DOID:1059 intellectual disability ISO RGD:1312583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11846554 DSCAML1 DS cell adhesion molecule like 1 gene DOID:630 genetic disease ISO RGD:1312583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:33501714 11846554 DSCAML1 DS cell adhesion molecule like 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1312583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11846554 DSCAML1 DS cell adhesion molecule like 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1312583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11846554 DSCAML1 DS cell adhesion molecule like 1 gene DOID:9007661 Dwarfism ISO RGD:1312583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11846591 ZNF75A zinc finger protein 75A gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1346975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11846591 ZNF75A zinc finger protein 75A gene DOID:1826 epilepsy ISO RGD:1346975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11846591 ZNF75A zinc finger protein 75A gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1346975 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11846591 ZNF75A zinc finger protein 75A gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1346975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 11846591 ZNF75A zinc finger protein 75A gene DOID:630 genetic disease ISO RGD:1346975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11846606 ARMC9 armadillo repeat containing 9 gene DOID:0050777 Joubert syndrome ISO RGD:1604597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532|PMID:28625504|PMID:31474318 11846606 ARMC9 armadillo repeat containing 9 gene DOID:0060476 Perlman syndrome ISO RGD:1604597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11846606 ARMC9 armadillo repeat containing 9 gene DOID:0080275 Joubert syndrome 30 ISO RGD:1604597 D RGD:7240710 20190315 OMIM 11846606 ARMC9 armadillo repeat containing 9 gene DOID:0080275 Joubert syndrome 30 ISO RGD:1604597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 30 PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:28625504|PMID:29159890|PMID:31474318|PMID:9536098 11846606 ARMC9 armadillo repeat containing 9 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1604597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11846606 ARMC9 armadillo repeat containing 9 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1604597 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:25741868|PMID:28492532|PMID:28625504|PMID:31474318 11846606 ARMC9 armadillo repeat containing 9 gene DOID:630 genetic disease ISO RGD:1604597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11846606 ARMC9 armadillo repeat containing 9 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1604597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:25741868|PMID:28492532 11846650 TUBA8 tubulin alpha 8 gene DOID:0060224 atrial fibrillation ISO RGD:1352677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11846650 TUBA8 tubulin alpha 8 gene DOID:0080482 peroxisome biogenesis disorder 7A ISO RGD:1352677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A (Zellweger) PMID:12851857|PMID:21031596|PMID:28492532 11846650 TUBA8 tubulin alpha 8 gene DOID:0111996 immunodeficiency 51 ISO RGD:1352677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11846650 TUBA8 tubulin alpha 8 gene DOID:10907 microcephaly ISO RGD:1352677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:31481326 11846650 TUBA8 tubulin alpha 8 gene DOID:11198 DiGeorge syndrome ISO RGD:1352677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 11846650 TUBA8 tubulin alpha 8 gene DOID:630 genetic disease ISO RGD:1352677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 11846650 TUBA8 tubulin alpha 8 gene DOID:9003883 Isolated Macrothrombocytopenia 2, Autosomal Dominant ISO RGD:1352677 D RGD:7240710 20220504 OMIM 11846650 TUBA8 tubulin alpha 8 gene DOID:9003883 Isolated Macrothrombocytopenia 2, Autosomal Dominant ISO RGD:1352677 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Macrothrombocytopenia, isolated, 2, autosomal dominant PMID:25741868|PMID:28492532|PMID:34704371 11846650 TUBA8 tubulin alpha 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11846650 TUBA8 tubulin alpha 8 gene DOID:9006775 Polymicrogyria with Optic Nerve Hypoplasia ISO RGD:1352677 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polymicrogyria with optic nerve hypoplasia PMID:18414213|PMID:19896110|PMID:20466094|PMID:25741868|PMID:26467025|PMID:28388629|PMID:28492532|PMID:34704371 11846650 TUBA8 tubulin alpha 8 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1352677 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11846675 MTDH metadherin gene DOID:630 genetic disease ISO RGD:735692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11846675 MTDH metadherin gene DOID:684 hepatocellular carcinoma treatment ISO RGD:735692 D RGD:9068941 20210528 RGD human cells in a mouse model PMID:26351209|REF_RGD_ID:11096879 11846675 MTDH metadherin gene DOID:9000965 Neoplasm Metastasis ISO RGD:735692 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19111877 11846675 MTDH metadherin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735692 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29315995 11846675 MTDH metadherin gene DOID:9008443 Colorectal Neoplasms ISO RGD:735692 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29315995 11846675 MTDH metadherin gene DOID:9008939 Breast Neoplasms ISO RGD:735692 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19111877 11846698 PPP2R2B protein phosphatase 2 regulatory subunit Bbeta gene DOID:0050962 spinocerebellar ataxia type 12 ISO RGD:1352838 D RGD:7240710 20180130 OMIM 11846698 PPP2R2B protein phosphatase 2 regulatory subunit Bbeta gene DOID:0050962 spinocerebellar ataxia type 12 ISO RGD:1352838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PPP2R2B-Related Disorder | ClinVar Annotator: match by term: Spinocerebellar ataxia type 12 PMID:25741868 11846698 PPP2R2B protein phosphatase 2 regulatory subunit Bbeta gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1352838 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11846698 PPP2R2B protein phosphatase 2 regulatory subunit Bbeta gene DOID:10652 Alzheimer's disease ISO RGD:1352838 D RGD:9068941 20200609 RGD DNA:repeat PMID:21029765|REF_RGD_ID:5686295 11846698 PPP2R2B protein phosphatase 2 regulatory subunit Bbeta gene DOID:1612 breast cancer disease_progression ISO RGD:1352838 D RGD:9068941 20200609 RGD DNA:SNP: :rs319217 (human) PMID:20669227|REF_RGD_ID:5686296 11846698 PPP2R2B protein phosphatase 2 regulatory subunit Bbeta gene DOID:630 genetic disease ISO RGD:1352838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11846698 PPP2R2B protein phosphatase 2 regulatory subunit Bbeta gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1352838 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18940801 11846698 PPP2R2B protein phosphatase 2 regulatory subunit Bbeta gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1352838 D RGD:9068941 20200609 RGD DNA:repeat, SNPs, haplotype:multiple PMID:20629122|REF_RGD_ID:5686297 11846698 PPP2R2B protein phosphatase 2 regulatory subunit Bbeta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11846698 PPP2R2B protein phosphatase 2 regulatory subunit Bbeta gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352838 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11846698 PPP2R2B protein phosphatase 2 regulatory subunit Bbeta gene DOID:9008086 Developmental Disabilities ISO RGD:1352838 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11846698 PPP2R2B protein phosphatase 2 regulatory subunit Bbeta gene DOID:9074 systemic lupus erythematosus ISO RGD:1352838 D RGD:9068941 20200609 RGD PMID:21746932|REF_RGD_ID:5686291 11846698 PPP2R2B protein phosphatase 2 regulatory subunit Bbeta gene DOID:936 brain disease ISO RGD:1352838 D RGD:9068941 20200609 RGD PMID:21471219|REF_RGD_ID:5686294 11846740 VPS52 VPS52 subunit of GARP complex gene DOID:0050553 JMP syndrome ISO RGD:1604402 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11846740 VPS52 VPS52 subunit of GARP complex gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1604402 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 11846740 VPS52 VPS52 subunit of GARP complex gene DOID:630 genetic disease ISO RGD:1604402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11846740 VPS52 VPS52 subunit of GARP complex gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 11846764 H1-1 H1.1 linker histone, cluster member gene DOID:630 genetic disease ISO RGD:1313894 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11846769 PCDHB11 protocadherin beta 11 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1346313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11846769 PCDHB11 protocadherin beta 11 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1346313 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11846769 PCDHB11 protocadherin beta 11 gene DOID:630 genetic disease ISO RGD:1346313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11846769 PCDHB11 protocadherin beta 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11846769 PCDHB11 protocadherin beta 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346313 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11846774 GCGR glucagon receptor gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:69010 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532|PMID:7773293|PMID:8563746 11846774 GCGR glucagon receptor gene DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 ISO RGD:69010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20529775 11846774 GCGR glucagon receptor gene DOID:0112306 Mahvash disease ISO RGD:69010 D RGD:7240710 20210602 OMIM 11846774 GCGR glucagon receptor gene DOID:0112306 Mahvash disease ISO RGD:69010 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GCGR-related hyperglucagonemia PMID:19657311|PMID:25695890|PMID:25741868|PMID:27933176|PMID:30032256|PMID:32785645 11846774 GCGR glucagon receptor gene DOID:630 genetic disease ISO RGD:69010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11846774 GCGR glucagon receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:69010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532|PMID:7773293|PMID:8563746 11846797 CDS1 CDP-diacylglycerol synthase 1 gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:734044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 11846797 CDS1 CDP-diacylglycerol synthase 1 gene DOID:305 carcinoma ISO RGD:734044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11846797 CDS1 CDP-diacylglycerol synthase 1 gene DOID:630 genetic disease ISO RGD:734044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11846797 CDS1 CDP-diacylglycerol synthase 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:734044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11846797 CDS1 CDP-diacylglycerol synthase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11846797 CDS1 CDP-diacylglycerol synthase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11846815 SLC17A8 solute carrier family 17 member 8 gene DOID:0080855 Parkinsonism ISO RGD:628870 D RGD:9068941 20200609 RGD protein:increased expression:substantia nigra pars reticulata, neuron, perikaryon PMID:17435391|REF_RGD_ID:9999153 11846815 SLC17A8 solute carrier family 17 member 8 gene DOID:0110555 autosomal dominant nonsyndromic deafness 25 ISO RGD:733222 D RGD:7240710 20180130 OMIM 11846815 SLC17A8 solute carrier family 17 member 8 gene DOID:0110555 autosomal dominant nonsyndromic deafness 25 ISO RGD:733222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 25 PMID:11115382|PMID:18674745|PMID:23967202|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26797701|PMID:28492532|PMID:33229591 11846815 SLC17A8 solute carrier family 17 member 8 gene DOID:11446 sciatic neuropathy ISO RGD:628870 D RGD:9068941 20200609 RGD protein:decreased expression:nucleus accumbens PMID:23835161|REF_RGD_ID:9999206 11846815 SLC17A8 solute carrier family 17 member 8 gene DOID:224 transient cerebral ischemia ISO RGD:628870 D RGD:9068941 20200609 RGD PMID:23458738|REF_RGD_ID:9999193 11846815 SLC17A8 solute carrier family 17 member 8 gene DOID:5463 cochlear disease ISO RGD:628870 D RGD:9068941 20200609 RGD PMID:21215254|REF_RGD_ID:9999192 11846815 SLC17A8 solute carrier family 17 member 8 gene DOID:630 genetic disease ISO RGD:733222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 11846815 SLC17A8 solute carrier family 17 member 8 gene DOID:9002211 Hyperalgesia ISO RGD:628870 D RGD:9068941 20200609 RGD protein:increased expression:dorsal horn of spinal cord, neuron PMID:22160634|REF_RGD_ID:9999169 11846815 SLC17A8 solute carrier family 17 member 8 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:733222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant 11846815 SLC17A8 solute carrier family 17 member 8 gene DOID:9784 trichinosis ISO RGD:628870 D RGD:9068941 20200609 RGD protein:increased expression:dorsal horn of spinal cord, dorsal root ganglion PMID:22160634|REF_RGD_ID:9999169 11846832 SLC39A7 solute carrier family 39 member 7 gene DOID:0050553 JMP syndrome ISO RGD:1344767 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11846832 SLC39A7 solute carrier family 39 member 7 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1344767 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 11846832 SLC39A7 solute carrier family 39 member 7 gene DOID:0081141 agammaglobulinemia 9 ISO RGD:1344767 D RGD:7240710 20220112 OMIM 11846832 SLC39A7 solute carrier family 39 member 7 gene DOID:0081141 agammaglobulinemia 9 ISO RGD:1344767 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 9, autosomal recessive PMID:28492532|PMID:30718914 11846832 SLC39A7 solute carrier family 39 member 7 gene DOID:630 genetic disease ISO RGD:1344767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11846844 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:0050453 lissencephaly ISO RGD:1349260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly PMID:10441340|PMID:10583396|PMID:10727864|PMID:11115846|PMID:11502906|PMID:12885786|PMID:12885796|PMID:14581661|PMID:15007136|PMID:1671808|PMID:17576681|PMID:17664403|PMID:18414213|PMID:19667223|PMID:19808989|PMID:21410694|PMID:24088041|PMID:25326635|PMID:25741868|PMID:26494205|PMID:26633545|PMID:27891766|PMID:28492532|PMID:29671837|PMID:32238909|PMID:33176815|PMID:9063735|PMID:9147889|PMID:9536098|PMID:9817918|PMID:9860301 11846844 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:0050453 lissencephaly severity ISO RGD:1349260 D RGD:9068941 20200609 RGD DNA:mutations:: PMID:11115846|REF_RGD_ID:11073221 11846844 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1349260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome PMID:25741868 11846844 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:0060469 Miller-Dieker lissencephaly syndrome ISO RGD:1622377 D RGD:9068941 20220825 MouseDO OMIM:247200 11846844 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:0111169 subcortical band heterotopia ISO RGD:1349260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Subcortical band heterotopia PMID:10441340|PMID:11115846|PMID:11502906|PMID:14581661|PMID:1671808|PMID:18414213|PMID:25741868|PMID:28492532|PMID:29671837 11846844 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:0112237 lissencephaly 1 ISO RGD:1349260 D RGD:7240710 20210331 OMIM 11846844 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:1059 intellectual disability ISO RGD:1349260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:11115846|PMID:14581661|PMID:1671808|PMID:18414213|PMID:25741868|PMID:28492532|PMID:29671837|PMID:9817918 11846844 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:11832 visual epilepsy disease_progression ISO RGD:620331 D RGD:9068941 20200609 RGD PMID:10398295|REF_RGD_ID:12790965 11846844 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:5419 schizophrenia ISO RGD:1349260 D RGD:9068941 20200609 RGD mRNA:decreased expression:hipocampus,dorsolateral prefrontal cortex: PMID:16510495|REF_RGD_ID:12790585 11846844 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:630 genetic disease ISO RGD:1349260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10583396|PMID:11115846|PMID:17664403|PMID:18414213|PMID:25741868|PMID:27891766|PMID:28492532|PMID:29671837 11846844 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1349260 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver: PMID:21569763|REF_RGD_ID:12790589 11846844 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:8927 learning disability ISO RGD:1622377 D RGD:9068941 20200609 RGD PMID:10541472|REF_RGD_ID:12790586 11846844 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1349260 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:28492532 11846844 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:9005501 Abnormal Cortical Gyration ISO RGD:1349260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal cortical gyration PMID:25741868 11846844 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1349260 D RGD:9068941 20200609 RGD PMID:1754098|REF_RGD_ID:1601499 11846844 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:9007702 Carcinogenesis ISO RGD:1349260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24487275 11846844 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:9008500 Classical Lissencephalies and Subcortical Band Heterotopias ISO RGD:1349260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia 11846844 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:9923 developmental coordination disorder ISO RGD:1622377 D RGD:9068941 20200609 RGD PMID:10541472|REF_RGD_ID:12790586 11846865 PRR23E PRR23 family member E gene DOID:0111947 immunodeficiency 21 ISO RGD:1602415 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 11846865 PRR23E PRR23 family member E gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1602415 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 11846865 PRR23E PRR23 family member E gene DOID:9270 alkaptonuria ISO RGD:1602415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11846871 SLC22A4 solute carrier family 22 member 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733281 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11846871 SLC22A4 solute carrier family 22 member 4 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:733281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:20574985|PMID:28492532 11846871 SLC22A4 solute carrier family 22 member 4 gene DOID:630 genetic disease ISO RGD:733281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11846871 SLC22A4 solute carrier family 22 member 4 gene DOID:7148 rheumatoid arthritis ISO RGD:733281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis PMID:14608356 11846871 SLC22A4 solute carrier family 22 member 4 gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:733281 D RGD:7240710 20190329 OMIM 11846871 SLC22A4 solute carrier family 22 member 4 gene DOID:820 myocarditis ISO RGD:733281 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641380 11846871 SLC22A4 solute carrier family 22 member 4 gene DOID:9000220 Coxsackievirus Infections ISO RGD:733281 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641380 11846871 SLC22A4 solute carrier family 22 member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11846871 SLC22A4 solute carrier family 22 member 4 gene DOID:9004538 Hearing Loss ISO RGD:733281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary hearing loss and deafness PMID:27023905|PMID:28492532 11846871 SLC22A4 solute carrier family 22 member 4 gene DOID:9006549 Enterovirus Infections ISO RGD:733281 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641380 11846871 SLC22A4 solute carrier family 22 member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 11846871 SLC22A4 solute carrier family 22 member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733281 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11846885 SLC20A1 solute carrier family 20 member 1 gene DOID:289 endometriosis ISO RGD:1349725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11846885 SLC20A1 solute carrier family 20 member 1 gene DOID:630 genetic disease ISO RGD:1349725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11846885 SLC20A1 solute carrier family 20 member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11846885 SLC20A1 solute carrier family 20 member 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1349725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26773408 11846885 SLC20A1 solute carrier family 20 member 1 gene DOID:9004397 calcification of aortic valve ISO RGD:1349725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23308213 11846948 CACHD1 cache domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1605969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11846948 CACHD1 cache domain containing 1 gene DOID:630 genetic disease ISO RGD:1605969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:0050581 brachydactyly ISO RGD:737570 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:10364520|PMID:10787449|PMID:10879615|PMID:11464248|PMID:11938447|PMID:11977178|PMID:14612366|PMID:15643295|PMID:15942916|PMID:16785446|PMID:16889173|PMID:18353061|PMID:19790133|PMID:20008920|PMID:20828792|PMID:21290976|PMID:21600797|PMID:22037353|PMID:23164758|PMID:23334425|PMID:23907647|PMID:24318677|PMID:24369413|PMID:25741868|PMID:27030597|PMID:28492532|PMID:30171907|PMID:33223529|PMID:9288094|PMID:9288758|PMID:9781020 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:0050908 myelodysplastic syndrome susceptibility ISO RGD:737570 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.M694V,E148Q(human) PMID:22351163|REF_RGD_ID:11531114 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:0080746 Sweet syndrome ISO RGD:737570 D RGD:7240710 20200701 OMIM 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:0080746 Sweet syndrome ISO RGD:737570 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acute febrile neutrophilic dermatosis PMID:10024914|PMID:10090880|PMID:10364520|PMID:10447272|PMID:10612841|PMID:10737995|PMID:10787449|PMID:10842288|PMID:10879615|PMID:10905662|PMID:11017802|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12105243|PMID:12124996|PMID:12401847|PMID:12687559|PMID:12908875|PMID:14578331|PMID:14578333|PMID:14612366|PMID:14679589|PMID:14727057|PMID:14985395|PMID:15024744|PMID:15300846|PMID:15475974|PMID:15502081|PMID:15643295|PMID:15942916|PMID:15951859|PMID:16100353|PMID:16179998|PMID:16255051|PMID:16378925|PMID:16403826|PMID:16439335|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16889173|PMID:17331080|PMID:17489852|PMID:17576681|PMID:17665427|PMID:17665448|PMID:18353061|PMID:18409191|PMID:18609258|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19193696|PMID:19302049|PMID:19531756|PMID:19729025|PMID:19786432|PMID:19790133|PMID:19863562|PMID:19934105|PMID:19967574|PMID:20008920|PMID:20041150|PMID:20437121|PMID:20483145|PMID:20534143|PMID:20645115|PMID:20669279|PMID:20721559|PMID:20828792|PMID:21228398|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21600797|PMID:21623663|PMID:21727933|PMID:22019805|PMID:22037353|PMID:22190688|PMID:22281876|PMID:22451026|PMID:22505824|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22934972|PMID:23010357|PMID:23031807|PMID:23164758|PMID:23280696|PMID:23325590|PMID:23334425|PMID:23463692|PMID:23505242|PMID:23588594|PMID:23633568|PMID:23862117|PMID:23907647|PMID:23973724|PMID:24117178|PMID:24233262|PMID:24301775|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24469716|PMID:24630722|PMID:24702757|PMID:24760114|PMID:24797171|PMID:24929125|PMID:25006247|PMID:25036384|PMID:25332561|PMID:25393764|PMID:25626331|PMID:25703702|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25821352|PMID:25974247|PMID:26003477|PMID:26028444|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26360812|PMID:26399837|PMID:26467025|PMID:26510601|PMID:26574972|PMID:26585190|PMID:27030597|PMID:27473114|PMID:27513391|PMID:27872624|PMID:28211254|PMID:28289585|PMID:28340799|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28597968|PMID:28814775|PMID:28835462|PMID:28943464|PMID:29047407|PMID:29148036|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29579081|PMID:29599418|PMID:29735907|PMID:30171907|PMID:30355575|PMID:30476289|PMID:30546872|PMID:30887796|PMID:31088470|PMID:31329540|PMID:31411330|PMID:31512232|PMID:31589380|PMID:31646357|PMID:31803701|PMID:31989427|PMID:31998953|PMID:32199921|PMID:32359823|PMID:32441320|PMID:32447396|PMID:32909274|PMID:33223529|PMID:33733382|PMID:33738724|PMID:33747591|PMID:33813620|PMID:34426522|PMID:35098403|PMID:9288094|PMID:9288758|PMID:9336425|PMID:9536098|PMID:9668175|PMID:9781020 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:737570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:737570 D RGD:9068941 20200609 RGD DNA:mutation:exon:p. E148Q (human) PMID:20602240|REF_RGD_ID:7349347 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:737570 D RGD:9068941 20200609 RGD DNA:mutations:exons: PMID:22451026|REF_RGD_ID:7349346 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:11123 Henoch-Schoenlein purpura susceptibility ISO RGD:737570 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:25232290|REF_RGD_ID:11531116 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:11383 cryptorchidism ISO RGD:737570 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cryptorchidism PMID:10364520|PMID:10787449|PMID:10879615|PMID:11464248|PMID:11938447|PMID:11977178|PMID:14612366|PMID:15643295|PMID:15942916|PMID:16498449|PMID:16785446|PMID:16889173|PMID:18353061|PMID:19790133|PMID:20008920|PMID:20041150|PMID:20828792|PMID:21290976|PMID:21600797|PMID:22037353|PMID:22337722|PMID:22903357|PMID:23010357|PMID:23070486|PMID:23164758|PMID:23325590|PMID:23334425|PMID:23867542|PMID:23907647|PMID:24117178|PMID:24318677|PMID:24369413|PMID:25203624|PMID:25741868|PMID:26247045|PMID:26554556|PMID:26620106|PMID:27030597|PMID:27838405|PMID:28421071|PMID:28492532|PMID:29178647|PMID:29260407|PMID:29599418|PMID:29927949|PMID:30171907|PMID:31411330|PMID:33223529|PMID:9288094|PMID:9288758|PMID:9781020 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:13241 Behcet's disease ISO RGD:737570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Behcet disease PMID:25741868|PMID:28492532|PMID:28814775|PMID:31411330 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:1682 congenital heart disease ISO RGD:737570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:10090880|PMID:10611954|PMID:10612841|PMID:10787450|PMID:10842288|PMID:11464238|PMID:11977178|PMID:15018633|PMID:15024744|PMID:16730661|PMID:17489852|PMID:19253030|PMID:19934083|PMID:20041150|PMID:20534143|PMID:21153919|PMID:21246368|PMID:21413889|PMID:21978701|PMID:22207183|PMID:22614345|PMID:22903357|PMID:23505242|PMID:23588594|PMID:23907647|PMID:23981758|PMID:24033266|PMID:24251727|PMID:24469716|PMID:24929125|PMID:25615955|PMID:25741868|PMID:26003477|PMID:26078663|PMID:27364639|PMID:27733942|PMID:28483595|PMID:28492532|PMID:29047407|PMID:29543225|PMID:29599418|PMID:31989427|PMID:32312770|PMID:33733382|PMID:34426522|PMID:35098403|PMID:9668175 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:1826 epilepsy ISO RGD:737570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:1827 idiopathic generalized epilepsy ISO RGD:737570 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:737570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:2280 hidradenitis suppurativa ISO RGD:737570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:2841 asthma susceptibility ISO RGD:737570 D RGD:9068941 20200609 RGD DNA:mutations:exons PMID:18219832|REF_RGD_ID:5129186 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:2935 Chediak-Higashi syndrome ISO RGD:737570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:10024914|PMID:10090880|PMID:10234504|PMID:10364520|PMID:10447272|PMID:10611954|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10787450|PMID:10842288|PMID:10852276|PMID:10854105|PMID:10854115|PMID:10879615|PMID:10905662|PMID:10980540|PMID:11017802|PMID:11175300|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11470495|PMID:11588211|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12064853|PMID:12105243|PMID:12124996|PMID:12180071|PMID:12401847|PMID:12687559|PMID:12908875|PMID:12929299|PMID:12955725|PMID:14578331|PMID:14578333|PMID:14612366|PMID:14679589|PMID:14727057|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15168590|PMID:15458961|PMID:15475974|PMID:15502081|PMID:15643295|PMID:15717684|PMID:15720244|PMID:15745878|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16100353|PMID:16179998|PMID:16255051|PMID:16378925|PMID:16403826|PMID:16439335|PMID:16439437|PMID:16498449|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16802374|PMID:16889173|PMID:17276496|PMID:17329916|PMID:17331080|PMID:17489852|PMID:17566872|PMID:17665427|PMID:18097735|PMID:18307385|PMID:18328141|PMID:18353061|PMID:18386244|PMID:18409191|PMID:18496034|PMID:18609258|PMID:18662100|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19253030|PMID:19449169|PMID:19466506|PMID:19531756|PMID:19762364|PMID:19777236|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19845843|PMID:19863562|PMID:19877056|PMID:19929404|PMID:19934082|PMID:19934083|PMID:19934105|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20044784|PMID:20051664|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20525738|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20688806|PMID:20721559|PMID:20828792|PMID:20890251|PMID:20981092|PMID:21153919|PMID:21228398|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21562927|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21623663|PMID:21727933|PMID:21978701|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22190688|PMID:22207183|PMID:22261745|PMID:22337722|PMID:22451026|PMID:22467954|PMID:22505824|PMID:22532615|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22906030|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23006543|PMID:23010357|PMID:23031807|PMID:23038988|PMID:23070486|PMID:23137073|PMID:23155201|PMID:23164758|PMID:23166428|PMID:23206577|PMID:23217869|PMID:23291246|PMID:23302539|PMID:23325590|PMID:23334425|PMID:23400211|PMID:23437051|PMID:23463692|PMID:23505238|PMID:23505242|PMID:23524442|PMID:23588594|PMID:23592051|PMID:23716950|PMID:23800337|PMID:23844200|PMID:23847694|PMID:23867542|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24033266|PMID:24071932|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24233262|PMID:24251727|PMID:24261781|PMID:24263150|PMID:24289199|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24383976|PMID:24433404|PMID:24469716|PMID:24702757|PMID:24797171|PMID:24862656|PMID:24929125|PMID:24965843|PMID:25006247|PMID:25073670|PMID:25088882|PMID:25203624|PMID:25261100|PMID:25286988|PMID:25393764|PMID:25615955|PMID:25626331|PMID:25648235|PMID:25671271|PMID:25703702|PMID:25708585|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25821352|PMID:25866490|PMID:25959027|PMID:25974247|PMID:26003477|PMID:26027984|PMID:26028444|PMID:26078663|PMID:26131005|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26351556|PMID:26360812|PMID:26413094|PMID:26467025|PMID:26510601|PMID:26537665|PMID:26554556|PMID:26585190|PMID:26620106|PMID:26690517|PMID:26722138|PMID:26759267|PMID:26843738|PMID:26933204|PMID:27030597|PMID:27100444|PMID:27333294|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27513391|PMID:27535533|PMID:27621632|PMID:27659338|PMID:27733942|PMID:27838405|PMID:27884173|PMID:27980538|PMID:27994174|PMID:28001092|PMID:28211254|PMID:28302131|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28597968|PMID:28750028|PMID:28863210 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:2935 Chediak-Higashi syndrome ISO RGD:737570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:28927886|PMID:28943464|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29314707|PMID:29363386|PMID:29379228|PMID:29526930|PMID:29543225|PMID:29599418|PMID:29735907|PMID:29808155|PMID:29927949|PMID:30171907|PMID:30235678|PMID:30355575|PMID:30407166|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30546872|PMID:30783801|PMID:30915208|PMID:30996171|PMID:31088470|PMID:31204589|PMID:31264586|PMID:31411330|PMID:31531243|PMID:31620089|PMID:31646357|PMID:31989427|PMID:32082075|PMID:32199921|PMID:32312770|PMID:32401353|PMID:32461654|PMID:32741030|PMID:32853466|PMID:32909274|PMID:33223529|PMID:33331265|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:34426522|PMID:35098403|PMID:5458961|PMID:7677151|PMID:9288094|PMID:9288758|PMID:9527614|PMID:9668175|PMID:9781020 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:2935 Chediak-Higashi syndrome ISO RGD:737570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:10024914|PMID:10090880|PMID:10234504|PMID:10364520|PMID:10447272|PMID:10611954|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10787450|PMID:10842288|PMID:10852276|PMID:10854105|PMID:10854115|PMID:10879615|PMID:10905662|PMID:10980540|PMID:11017802|PMID:11175300|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11470495|PMID:11588211|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12064853|PMID:12105243|PMID:12124996|PMID:12180071|PMID:12401847|PMID:12687559|PMID:12908875|PMID:12929299|PMID:12955725|PMID:14578331|PMID:14578333|PMID:14612366|PMID:14679589|PMID:14727057|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15168590|PMID:15458961|PMID:15475974|PMID:15502081|PMID:15643295|PMID:15717684|PMID:15720244|PMID:15745878|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16100353|PMID:16179998|PMID:16255051|PMID:16378925|PMID:16403826|PMID:16439335|PMID:16439437|PMID:16498449|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16802374|PMID:16889173|PMID:17276496|PMID:17329916|PMID:17331080|PMID:17489852|PMID:17566872|PMID:17665427|PMID:17665448|PMID:18097735|PMID:18307385|PMID:18328141|PMID:18353061|PMID:18386244|PMID:18409191|PMID:18496034|PMID:18609258|PMID:18662100|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19253030|PMID:19302049|PMID:19449169|PMID:19466506|PMID:19531756|PMID:19762364|PMID:19777236|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19845843|PMID:19863562|PMID:19877056|PMID:19929404|PMID:19934082|PMID:19934083|PMID:19934105|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20044784|PMID:20051664|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20525738|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20688806|PMID:20721559|PMID:20828792|PMID:20890251|PMID:20981092|PMID:21153919|PMID:21228398|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21562927|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21623663|PMID:21727933|PMID:21978701|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22190688|PMID:22207183|PMID:22261745|PMID:22337722|PMID:22451026|PMID:22467954|PMID:22505824|PMID:22532615|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22906030|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23006543|PMID:23010357|PMID:23031807|PMID:23038988|PMID:23070486|PMID:23137073|PMID:23155201|PMID:23164758|PMID:23166428|PMID:23206577|PMID:23217869|PMID:23291246|PMID:23302539|PMID:23325590|PMID:23334425|PMID:23400211|PMID:23437051|PMID:23463692|PMID:23505238|PMID:23505242|PMID:23524442|PMID:23588594|PMID:23592051|PMID:23716950|PMID:23800337|PMID:23844200|PMID:23847694|PMID:23867542|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24033266|PMID:24071932|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24233262|PMID:24251727|PMID:24261781|PMID:24263150|PMID:24289199|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24383976|PMID:24433404|PMID:24469716|PMID:24702757|PMID:24797171|PMID:24862656|PMID:24929125|PMID:24965843|PMID:25006247|PMID:25073670|PMID:25088882|PMID:25203624|PMID:25261100|PMID:25286988|PMID:25393764|PMID:25615955|PMID:25626331|PMID:25648235|PMID:25671271|PMID:25703702|PMID:25708585|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25821352|PMID:25866490|PMID:25959027|PMID:25974247|PMID:26003477|PMID:26027984|PMID:26028444|PMID:26078663|PMID:26131005|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26351556|PMID:26360812|PMID:26399837|PMID:26413094|PMID:26467025|PMID:26510601|PMID:26537665|PMID:26554556|PMID:26585190|PMID:26620106|PMID:26690517|PMID:26722138|PMID:26759267|PMID:26843738|PMID:26933204|PMID:27030597|PMID:27100444|PMID:27333294|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27513391|PMID:27535533|PMID:27621632|PMID:27659338|PMID:27733942|PMID:27838405|PMID:27884173|PMID:27980538|PMID:27994174|PMID:28001092|PMID:28211254|PMID:28302131|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:2935 Chediak-Higashi syndrome ISO RGD:737570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:28597968|PMID:28750028|PMID:28863210|PMID:28927886|PMID:28943464|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29314707|PMID:29363386|PMID:29379228|PMID:29526930|PMID:29543225|PMID:29599418|PMID:29735907|PMID:29808155|PMID:29927949|PMID:30171907|PMID:30235678|PMID:30355575|PMID:30407166|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30546872|PMID:30783801|PMID:30915208|PMID:30996171|PMID:31088470|PMID:31204589|PMID:31264586|PMID:31411330|PMID:31512232|PMID:31531243|PMID:31620089|PMID:31646357|PMID:31989427|PMID:32082075|PMID:32199921|PMID:32312770|PMID:32401353|PMID:32447396|PMID:32461654|PMID:32741030|PMID:32853466|PMID:32909274|PMID:33223529|PMID:33331265|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:34426522|PMID:35098403|PMID:35490273|PMID:35780723|PMID:5458961|PMID:7677151|PMID:9288094|PMID:9288758|PMID:9527614|PMID:9668175|PMID:9781020 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:2987 familial Mediterranean fever ISO RGD:737570 D RGD:7240710 20180130 OMIM 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:2987 familial Mediterranean fever ISO RGD:737570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial Mediterranean fever | ClinVar Annotator: match by term: Periodic disease PMID:10024914|PMID:10090880|PMID:10234504|PMID:10364520|PMID:10447272|PMID:10611954|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10787450|PMID:10842288|PMID:10852276|PMID:10854105|PMID:10854115|PMID:10879615|PMID:10905662|PMID:10980540|PMID:11017802|PMID:11139259|PMID:11175300|PMID:11242116|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11470495|PMID:11588211|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12064853|PMID:12105243|PMID:12124996|PMID:12180071|PMID:12401847|PMID:12687559|PMID:12908875|PMID:12929299|PMID:12955725|PMID:14578331|PMID:14578333|PMID:14612366|PMID:14636645|PMID:14679589|PMID:14727057|PMID:14985395|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15168590|PMID:15300846|PMID:15458961|PMID:15475974|PMID:15502081|PMID:15643295|PMID:15717684|PMID:15720244|PMID:15745878|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16100353|PMID:16179998|PMID:16199547|PMID:16255051|PMID:16378925|PMID:16403826|PMID:16439335|PMID:16439437|PMID:16498449|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16802374|PMID:16889173|PMID:17276496|PMID:17329916|PMID:17331080|PMID:17489852|PMID:17566872|PMID:17576681|PMID:17594097|PMID:17665427|PMID:17938136|PMID:18097735|PMID:18307385|PMID:18328141|PMID:18353061|PMID:18386244|PMID:18409191|PMID:18496034|PMID:18609258|PMID:18662100|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19193696|PMID:19253030|PMID:19262573|PMID:19302049|PMID:19449169|PMID:19466506|PMID:19479870|PMID:19531756|PMID:19729025|PMID:19762364|PMID:19777236|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19845843|PMID:19863562|PMID:19877056|PMID:19929404|PMID:19934082|PMID:19934083|PMID:19934105|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20044784|PMID:20051664|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20525738|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20688806|PMID:20721559|PMID:20828792|PMID:20890251|PMID:20981092|PMID:21153919|PMID:21228398|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21562927|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21623663|PMID:21727933|PMID:21978701|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22190688|PMID:22207183|PMID:22261745|PMID:22281876|PMID:22337722|PMID:22451026|PMID:22467954|PMID:22505824|PMID:22532615|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22906030|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23006543|PMID:23010357|PMID:23031807|PMID:23038988|PMID:23070486|PMID:23137073|PMID:23155201|PMID:23164758|PMID:23166428|PMID:23206577|PMID:23217869|PMID:23280696|PMID:23291246|PMID:23302539|PMID:23325590|PMID:23334425|PMID:23400211|PMID:23437051|PMID:23463692|PMID:23505238|PMID:23505242|PMID:23524442|PMID:23588594|PMID:23592051|PMID:23633568|PMID:23716950|PMID:23800337|PMID:23844200|PMID:23847694|PMID:23862117|PMID:23867542|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24033266|PMID:24071932|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24158885|PMID:24233262|PMID:24251727|PMID:24261781|PMID:24263150|PMID:24289199|PMID:24301775|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24383976|PMID:24433404|PMID:24469716|PMID:24630722|PMID:24702757|PMID:24718488|PMID:24760114|PMID:24797171|PMID:24862656|PMID:24929125|PMID:24950168|PMID:24965843|PMID:25006247|PMID:25036384|PMID:25073670|PMID:25088882|PMID:25203624|PMID:25261100|PMID:25286988|PMID:25332561|PMID:25393764|PMID:25615955|PMID:25626331|PMID:25648235|PMID:25671271|PMID:25703702|PMID:25708585|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25821352|PMID:25866490|PMID:25959027|PMID:25974247|PMID:26003477|PMID:26027984|PMID:26028444|PMID:26078663|PMID:26131005|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26351556|PMID:26360812|PMID:26413094|PMID:26467025|PMID:26510601|PMID:26537665|PMID:26554556|PMID:26574972|PMID:26585190|PMID:26620106|PMID:26690517|PMID:26722138|PMID:26759267|PMID:26843738 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:2987 familial Mediterranean fever ISO RGD:737570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial Mediterranean fever | ClinVar Annotator: match by term: Periodic disease PMID:26933204|PMID:2703059|PMID:27030597|PMID:27100444|PMID:27310525|PMID:27332769|PMID:27333294|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27513391|PMID:27535533|PMID:27621632|PMID:27659338|PMID:27733942|PMID:27838405|PMID:27872624|PMID:27884173|PMID:27980538|PMID:27994174|PMID:28001092|PMID:28211254|PMID:28289585|PMID:28302131|PMID:28340799|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28597968|PMID:28750028|PMID:28814775|PMID:28863210|PMID:28927886|PMID:28943464|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29151129|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29314707|PMID:29363386|PMID:29379228|PMID:29526930|PMID:29543225|PMID:29579081|PMID:29599418|PMID:29735907|PMID:29808155|PMID:29927949|PMID:30171907|PMID:30235678|PMID:30355575|PMID:30407166|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30546872|PMID:30783801|PMID:30887796|PMID:30915208|PMID:30996171|PMID:31088470|PMID:31204589|PMID:31264586|PMID:31329540|PMID:31411330|PMID:31531243|PMID:31589380|PMID:31620089|PMID:31646357|PMID:31989427|PMID:31998953|PMID:32082075|PMID:32199921|PMID:32312770|PMID:32359823|PMID:32401353|PMID:32441320|PMID:32461654|PMID:32741030|PMID:32853466|PMID:32909274|PMID:33223529|PMID:33331265|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:33813620|PMID:34426522|PMID:35098403|PMID:5458961|PMID:7677151|PMID:9288094|PMID:9288758|PMID:9336425|PMID:9527614|PMID:9536098|PMID:9668175|PMID:9781020 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:2987 familial Mediterranean fever ISO RGD:737570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial Mediterranean fever PMID:10024914|PMID:10090880|PMID:10234504|PMID:10364520|PMID:10447272|PMID:10611954|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10787450|PMID:10842288|PMID:10852276|PMID:10854105|PMID:10854115|PMID:10879615|PMID:10905662|PMID:10980540|PMID:11017802|PMID:11139259|PMID:11175300|PMID:11242116|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11470495|PMID:11588211|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12064853|PMID:12105243|PMID:12124996|PMID:12180071|PMID:12401847|PMID:12687559|PMID:12908875|PMID:12929299|PMID:12955725|PMID:14578331|PMID:14578333|PMID:14612366|PMID:14636645|PMID:14679589|PMID:14727057|PMID:14985395|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15168590|PMID:15300846|PMID:15458961|PMID:15475974|PMID:15502081|PMID:15643295|PMID:15717684|PMID:15720244|PMID:15745878|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16100353|PMID:16179998|PMID:16199547|PMID:16255051|PMID:16378925|PMID:16403826|PMID:16439335|PMID:16439437|PMID:16498449|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16802374|PMID:16889173|PMID:17276496|PMID:17329916|PMID:17331080|PMID:17489852|PMID:17566872|PMID:17576681|PMID:17594097|PMID:17665427|PMID:17665448|PMID:17938136|PMID:18097735|PMID:18307385|PMID:18328141|PMID:18353061|PMID:18386244|PMID:18409191|PMID:18496034|PMID:18609258|PMID:18662100|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19193696|PMID:19253030|PMID:19262573|PMID:19302049|PMID:19449169|PMID:19466506|PMID:19479870|PMID:19531756|PMID:19729025|PMID:19762364|PMID:19777236|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19845843|PMID:19863562|PMID:19877056|PMID:19929404|PMID:19934082|PMID:19934083|PMID:19934105|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20044784|PMID:20051664|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20525738|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20688806|PMID:20721559|PMID:20828792|PMID:20890251|PMID:20981092|PMID:21153919|PMID:21228398|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21562927|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21623663|PMID:21727933|PMID:21978701|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22190688|PMID:22207183|PMID:22261745|PMID:22281876|PMID:22337722|PMID:22451026|PMID:22467954|PMID:22505824|PMID:22532615|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22906030|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23006543|PMID:23010357|PMID:23031807|PMID:23038988|PMID:23070486|PMID:23137073|PMID:23155201|PMID:23164758|PMID:23166428|PMID:23206577|PMID:23217869|PMID:23280696|PMID:23291246|PMID:23302539|PMID:23325590|PMID:23334425|PMID:23400211|PMID:23437051|PMID:23463692|PMID:23505238|PMID:23505242|PMID:23524442|PMID:23588594|PMID:23592051|PMID:23633568|PMID:23716950|PMID:23800337|PMID:23844200|PMID:23847694|PMID:23862117|PMID:23867542|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24033266|PMID:24071932|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24158885|PMID:24233262|PMID:24251727|PMID:24261781|PMID:24263150|PMID:24289199|PMID:24301775|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24383976|PMID:24433404|PMID:24469716|PMID:24630722|PMID:24702757|PMID:24718488|PMID:24760114|PMID:24797171|PMID:24862656|PMID:24929125|PMID:24950168|PMID:24965843|PMID:25006247|PMID:25036384|PMID:25073670|PMID:25088882|PMID:25203624|PMID:25261100|PMID:25286988|PMID:25332561|PMID:25393764|PMID:25615955|PMID:25626331|PMID:25648235|PMID:25671271|PMID:25703702|PMID:25708585|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25821352|PMID:25866490|PMID:25959027|PMID:25974247|PMID:26003477|PMID:26027984|PMID:26028444|PMID:26078663|PMID:26131005|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26351556|PMID:26360812|PMID:26399837|PMID:26413094|PMID:26467025|PMID:26510601|PMID:26537665|PMID:26554556|PMID:26574972|PMID:26585190|PMID:26620106|PMID:26690517|PMID:26722138 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:2987 familial Mediterranean fever ISO RGD:737570 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial Mediterranean fever PMID:26759267|PMID:26843738|PMID:26933204|PMID:2703059|PMID:27030597|PMID:27100444|PMID:27310525|PMID:27332769|PMID:27333294|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27513391|PMID:27535533|PMID:27621632|PMID:27659338|PMID:27733942|PMID:27838405|PMID:27872624|PMID:27884173|PMID:27980538|PMID:27994174|PMID:28001092|PMID:28211254|PMID:28289585|PMID:28302131|PMID:28340799|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28597968|PMID:28750028|PMID:28814775|PMID:28863210|PMID:28927886|PMID:28943464|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29151129|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29314707|PMID:29363386|PMID:29379228|PMID:29526930|PMID:29543225|PMID:29579081|PMID:29599418|PMID:29735907|PMID:29808155|PMID:29927949|PMID:30171907|PMID:30235678|PMID:30355575|PMID:30407166|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30546872|PMID:30783801|PMID:30887796|PMID:30915208|PMID:30996171|PMID:31088470|PMID:31204589|PMID:31264586|PMID:31329540|PMID:31411330|PMID:31512232|PMID:31522233|PMID:31531243|PMID:31589380|PMID:31620089|PMID:31646357|PMID:31803701|PMID:31989427|PMID:31998953|PMID:32082075|PMID:32199921|PMID:32312770|PMID:32359823|PMID:32401353|PMID:32441320|PMID:32447396|PMID:32461654|PMID:32741030|PMID:32853466|PMID:32909274|PMID:33223529|PMID:33331265|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:33813620|PMID:34426522|PMID:35098403|PMID:35490273|PMID:35780723|PMID:5458961|PMID:7677151|PMID:9288094|PMID:9288758|PMID:9336425|PMID:9527614|PMID:9536098|PMID:9668175|PMID:9781020 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:3529 central core disease ISO RGD:737570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central core myopathy PMID:25741868|PMID:28492532 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:630 genetic disease ISO RGD:737570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10024914|PMID:10090880|PMID:10234504|PMID:10364520|PMID:10447272|PMID:10611954|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10787450|PMID:10842288|PMID:10854115|PMID:10879615|PMID:10905662|PMID:10980540|PMID:11017802|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11588211|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12105243|PMID:12124996|PMID:12401847|PMID:12687559|PMID:12908875|PMID:12929299|PMID:12955725|PMID:14578331|PMID:14612366|PMID:14679589|PMID:14727057|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15458961|PMID:15643295|PMID:15717684|PMID:15745878|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16100353|PMID:16179998|PMID:16255051|PMID:16378925|PMID:16439335|PMID:16439437|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16802374|PMID:16889173|PMID:17331080|PMID:17489852|PMID:17566872|PMID:17665427|PMID:18097735|PMID:18328141|PMID:18353061|PMID:18386244|PMID:18409191|PMID:18496034|PMID:18609258|PMID:18662100|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19253030|PMID:19449169|PMID:19531756|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19863562|PMID:19929404|PMID:19934082|PMID:19934083|PMID:19934105|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20525738|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20688806|PMID:20721559|PMID:20828792|PMID:20890251|PMID:20981092|PMID:21153919|PMID:21228398|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21623663|PMID:21978701|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22207183|PMID:22261745|PMID:22467954|PMID:22505824|PMID:22532615|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22906030|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23031807|PMID:23038988|PMID:23164758|PMID:23291246|PMID:23302539|PMID:23325590|PMID:23334425|PMID:23400211|PMID:23463692|PMID:23505238|PMID:23505242|PMID:23524442|PMID:23588594|PMID:23592051|PMID:23716950|PMID:23844200|PMID:23847694|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24033266|PMID:24071932|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24251727|PMID:24289199|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24433404|PMID:24469716|PMID:24797171|PMID:24929125|PMID:24965843|PMID:25073670|PMID:25261100|PMID:25393764|PMID:25615955|PMID:25648235|PMID:25703702|PMID:25708585|PMID:25741868|PMID:25793047|PMID:25821352|PMID:25866490|PMID:25959027|PMID:26003477|PMID:26027984|PMID:26078663|PMID:26131005|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26351556|PMID:26360812|PMID:26467025|PMID:26510601|PMID:26537665|PMID:26690517|PMID:26843738|PMID:27030597|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27513391|PMID:27535533|PMID:27621632|PMID:27659338|PMID:27733942|PMID:27884173|PMID:27980538|PMID:27994174|PMID:28001092|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28927886|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29178647|PMID:29314707|PMID:29526930|PMID:29543225|PMID:29599418|PMID:29735907|PMID:29808155|PMID:29927949|PMID:30171907|PMID:30407166|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30783801|PMID:30915208|PMID:30996171|PMID:31204589|PMID:31264586|PMID:31411330|PMID:31531243|PMID:31620089|PMID:31989427|PMID:32312770|PMID:32401353|PMID:32741030|PMID:32853466|PMID:32909274|PMID:33223529|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:34426522|PMID:35098403|PMID:35490273|PMID:35780723|PMID:5458961|PMID:7677151|PMID:9288094|PMID:9288758|PMID:9527614|PMID:9668175|PMID:9781020 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:6543 acne ISO RGD:737570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:850 lung disease ISO RGD:737570 D RGD:9068941 20200609 RGD associated with Mediterranean fever PMID:12746942|REF_RGD_ID:5129189 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:8553 pyoderma gangrenosum ISO RGD:737570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:9000727 Syncope ISO RGD:737570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Syncope PMID:10090880|PMID:10611954|PMID:10612841|PMID:10787450|PMID:10842288|PMID:11464238|PMID:11977178|PMID:15018633|PMID:15024744|PMID:16730661|PMID:17489852|PMID:19253030|PMID:19934083|PMID:20041150|PMID:20534143|PMID:21153919|PMID:21246368|PMID:21413889|PMID:21978701|PMID:22207183|PMID:22614345|PMID:22903357|PMID:23505242|PMID:23588594|PMID:23907647|PMID:23981758|PMID:24033266|PMID:24251727|PMID:24469716|PMID:24929125|PMID:25615955|PMID:25741868|PMID:26003477|PMID:26078663|PMID:27364639|PMID:27733942|PMID:28483595|PMID:28492532|PMID:29047407|PMID:29543225|PMID:29599418|PMID:31989427|PMID:32312770|PMID:33733382|PMID:34426522|PMID:35098403|PMID:9668175 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:9003984 Hyperpigmentation ISO RGD:737570 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hyperpigmentation PMID:25741868 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:9006532 Hematologic Neoplasms susceptibility ISO RGD:737570 D RGD:9068941 20200609 RGD DNA:mutations:cds:p.M694V,E148Q,M680I(human) PMID:20518828|REF_RGD_ID:11531118 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:9007619 Familial Mediterranean Fever, Autosomal Dominant ISO RGD:737570 D RGD:7240710 20180130 OMIM 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:9007619 Familial Mediterranean Fever, Autosomal Dominant ISO RGD:737570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial Mediterranean fever, autosomal dominant PMID:10024914|PMID:10090880|PMID:10234504|PMID:10364520|PMID:10447272|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10842288|PMID:10852276|PMID:10854115|PMID:10879615|PMID:10905662|PMID:10980540|PMID:11017802|PMID:11175300|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11588211|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12064853|PMID:12105243|PMID:12180071|PMID:12401847|PMID:12687559|PMID:12908875|PMID:12929299|PMID:12955725|PMID:14578331|PMID:14578333|PMID:14612366|PMID:14679589|PMID:14727057|PMID:14985395|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15168590|PMID:15300846|PMID:15458961|PMID:15475974|PMID:15502081|PMID:15643295|PMID:15717684|PMID:15745878|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16179998|PMID:16255051|PMID:16378925|PMID:16403826|PMID:16439335|PMID:16439437|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16889173|PMID:17331080|PMID:17489852|PMID:17566872|PMID:17576681|PMID:17665427|PMID:17665448|PMID:18097735|PMID:18307385|PMID:18328141|PMID:18353061|PMID:18386244|PMID:18409191|PMID:18496034|PMID:18609258|PMID:18662100|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19193696|PMID:19253030|PMID:19302049|PMID:19449169|PMID:19466506|PMID:19479870|PMID:19531756|PMID:19729025|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19845843|PMID:19863562|PMID:19929404|PMID:19934083|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20044784|PMID:20051664|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20721559|PMID:20828792|PMID:20890251|PMID:21153919|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21623663|PMID:21727933|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22190688|PMID:22261745|PMID:22281876|PMID:22451026|PMID:22505824|PMID:22532615|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23010357|PMID:23031807|PMID:23038988|PMID:23155201|PMID:23164758|PMID:23206577|PMID:23280696|PMID:23334425|PMID:23400211|PMID:23463692|PMID:23505238|PMID:23505242|PMID:23588594|PMID:23592051|PMID:23633568|PMID:23716950|PMID:23800337|PMID:23844200|PMID:23862117|PMID:23907647|PMID:23973724|PMID:24033266|PMID:24071932|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24233262|PMID:24263150|PMID:24289199|PMID:24301775|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24433404|PMID:24469716|PMID:24630722|PMID:24702757|PMID:24760114|PMID:24797171|PMID:24862656|PMID:24929125|PMID:24965843|PMID:25006247|PMID:25036384|PMID:25073670|PMID:25261100|PMID:25332561|PMID:25393764|PMID:25626331|PMID:25648235|PMID:25703702|PMID:25708585|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25821352|PMID:25866490|PMID:25959027|PMID:25974247|PMID:26003477|PMID:26028444|PMID:26131005|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26351556|PMID:26360812|PMID:26399837|PMID:26413094|PMID:26467025|PMID:26510601|PMID:26537665|PMID:26574972|PMID:26585190|PMID:26690517|PMID:26722138|PMID:26759267|PMID:26843738|PMID:2703059|PMID:27030597|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27513391|PMID:27621632|PMID:27659338|PMID:27872624|PMID:27884173|PMID:27980538|PMID:27994174|PMID:28001092|PMID:28211254|PMID:28289585|PMID:28302131|PMID:28340799|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28597968|PMID:28814775|PMID:28927886|PMID:28943464|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29314707|PMID:29543225|PMID:29579081|PMID:29599418|PMID:29735907|PMID:29808155|PMID:30171907|PMID:30355575|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30546872|PMID:30783801|PMID:30887796|PMID:30915208|PMID:31088470|PMID:31204589|PMID:31329540|PMID:31411330|PMID:31512232|PMID:31646357|PMID:31803701|PMID:31989427|PMID:32082075|PMID:32199921|PMID:32312770|PMID:32359823|PMID:32401353 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:9007619 Familial Mediterranean Fever, Autosomal Dominant ISO RGD:737570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial Mediterranean fever, autosomal dominant PMID:32441320|PMID:32447396|PMID:32461654|PMID:32741030|PMID:32853466|PMID:33223529|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:33813620|PMID:34426522|PMID:35098403|PMID:35490273|PMID:35780723|PMID:5458961|PMID:7677151|PMID:9288094|PMID:9288758|PMID:9336425|PMID:9527614|PMID:9536098|PMID:9668175|PMID:9781020 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:9008 psoriatic arthritis ISO RGD:737570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17408446 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:737570 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.M694V,E148Q(human) PMID:22351163|REF_RGD_ID:11531114 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:9538 multiple myeloma susceptibility ISO RGD:737570 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.E148Q,M694V(human) PMID:25202401|REF_RGD_ID:11531123 11846987 MEFV MEFV innate immunity regulator, pyrin gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:737570 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.E148Q,M680I(human) PMID:22942567|REF_RGD_ID:11531121 11847001 ADCY4 adenylate cyclase 4 gene DOID:0060439 lysinuric protein intolerance ISO RGD:736108 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11847001 ADCY4 adenylate cyclase 4 gene DOID:630 genetic disease ISO RGD:736108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847001 ADCY4 adenylate cyclase 4 gene DOID:9000265 Specific Granule Deficiency ISO RGD:736108 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11847001 ADCY4 adenylate cyclase 4 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:736108 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11847039 SEPHS2 selenophosphate synthetase 2 gene DOID:0050860 colorectal adenoma ISO RGD:1318823 D RGD:9068941 20220407 RGD mRNA:decreased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 11847039 SEPHS2 selenophosphate synthetase 2 gene DOID:0080199 colorectal carcinoma ISO RGD:1318823 D RGD:9068941 20220407 RGD mRNA:decreased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 11847039 SEPHS2 selenophosphate synthetase 2 gene DOID:630 genetic disease ISO RGD:1318823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847044 CDK6 cyclin dependent kinase 6 gene DOID:0050902 medulloblastoma ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706|PMID:23138228 11847044 CDK6 cyclin dependent kinase 6 gene DOID:0050902 medulloblastoma disease_progression ISO RGD:735400 D RGD:9068941 20200609 RGD PMID:16314645|REF_RGD_ID:13702096 11847044 CDK6 cyclin dependent kinase 6 gene DOID:0060224 atrial fibrillation ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11847044 CDK6 cyclin dependent kinase 6 gene DOID:0070284 primary autosomal recessive microcephaly 12 ISO RGD:735400 D RGD:7240710 20180130 OMIM 11847044 CDK6 cyclin dependent kinase 6 gene DOID:0070284 primary autosomal recessive microcephaly 12 ISO RGD:735400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 12, primary, autosomal recessive PMID:23918663 11847044 CDK6 cyclin dependent kinase 6 gene DOID:13241 Behcet's disease ISO RGD:735400 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Behcet disease 11847044 CDK6 cyclin dependent kinase 6 gene DOID:1790 malignant mesothelioma ISO RGD:735400 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 11847044 CDK6 cyclin dependent kinase 6 gene DOID:2355 anemia ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28255017 11847044 CDK6 cyclin dependent kinase 6 gene DOID:3068 glioblastoma ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20534551 11847044 CDK6 cyclin dependent kinase 6 gene DOID:3068 glioblastoma severity ISO RGD:735400 D RGD:9068941 20200609 RGD PMID:10884881|REF_RGD_ID:13702095 11847044 CDK6 cyclin dependent kinase 6 gene DOID:3070 high grade glioma ISO RGD:735400 D RGD:9068941 20200609 RGD DNA:amplification: PMID:9102208|REF_RGD_ID:13702094 11847044 CDK6 cyclin dependent kinase 6 gene DOID:3070 high grade glioma severity ISO RGD:735400 D RGD:9068941 20200609 RGD PMID:22736304|REF_RGD_ID:13702093 11847044 CDK6 cyclin dependent kinase 6 gene DOID:3587 pancreatic ductal carcinoma treatment ISO RGD:735400 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:24389175|REF_RGD_ID:13782187 11847044 CDK6 cyclin dependent kinase 6 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735400 D RGD:9068941 20200609 RGD PMID:27874949|REF_RGD_ID:13464321 11847044 CDK6 cyclin dependent kinase 6 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:735400 D RGD:9068941 20200609 RGD PMID:23591808|REF_RGD_ID:13464324 11847044 CDK6 cyclin dependent kinase 6 gene DOID:3910 lung adenocarcinoma ISO RGD:735400 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:10574260|REF_RGD_ID:13464325 11847044 CDK6 cyclin dependent kinase 6 gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:735400 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:25050737|REF_RGD_ID:13782144 11847044 CDK6 cyclin dependent kinase 6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11847044 CDK6 cyclin dependent kinase 6 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29464035 11847044 CDK6 cyclin dependent kinase 6 gene DOID:630 genetic disease ISO RGD:735400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847044 CDK6 cyclin dependent kinase 6 gene DOID:7148 rheumatoid arthritis ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18794853 11847044 CDK6 cyclin dependent kinase 6 gene DOID:7698 non-functioning pancreatic endocrine tumor ISO RGD:735400 D RGD:9068941 20200609 RGD associated with multiple endocrine neoplasia type 1;mRNA:increased expression:islet of Langerhans (human) PMID:29149451|REF_RGD_ID:13781946 11847044 CDK6 cyclin dependent kinase 6 gene DOID:9001341 Chloracne ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 11847044 CDK6 cyclin dependent kinase 6 gene DOID:9002777 Brain Stem Neoplasms ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24098593 11847044 CDK6 cyclin dependent kinase 6 gene DOID:9004814 Chromosome Aberrations ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24736461 11847044 CDK6 cyclin dependent kinase 6 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25221644 11847044 CDK6 cyclin dependent kinase 6 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:735400 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:33727089 11847044 CDK6 cyclin dependent kinase 6 gene DOID:9007096 Stroke ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 11847044 CDK6 cyclin dependent kinase 6 gene DOID:9119 acute myeloid leukemia ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 11847044 CDK6 cyclin dependent kinase 6 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24736461 11847066 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:0050722 PHGDH deficiency ISO RGD:737571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:28492532 11847066 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:0081168 HMG-CoA synthase 2 deficiency ISO RGD:737571 D RGD:7240710 20180130 OMIM 11847066 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:0081168 HMG-CoA synthase 2 deficiency ISO RGD:737571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY PMID:11228257|PMID:11479731|PMID:12072887|PMID:12647205|PMID:16199547|PMID:17576681|PMID:20346956|PMID:23751782|PMID:25511235|PMID:25741868|PMID:28492532|PMID:29597274|PMID:30477625|PMID:31910233|PMID:32259399|PMID:32952630|PMID:33045405|PMID:9337379|PMID:9536098|PMID:9727719 11847066 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:13619 extrahepatic cholestasis ISO RGD:2804 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver, mitochondrion (rat) PMID:12399220|REF_RGD_ID:2326121 11847066 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:737571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 11847066 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:6000 congestive heart failure ISO RGD:737571 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 11847066 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:630 genetic disease ISO RGD:737571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11847066 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737571 D RGD:9068941 20200609 RGD PMID:28867541|REF_RGD_ID:14975299 11847066 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:9002801 Recurrence ISO RGD:737571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27816970 11847066 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:737571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925|PMID:27816970 11847066 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27816970 11847066 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:9005369 Hepatomegaly ISO RGD:2804 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:10892723|REF_RGD_ID:2326126 11847066 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2804 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:7902069|REF_RGD_ID:2326135 11847066 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:737571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11847066 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:737571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27816970 11847082 SCCPDH saccharopine dehydrogenase (putative) gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1606286 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11847082 SCCPDH saccharopine dehydrogenase (putative) gene DOID:1540 parathyroid carcinoma ISO RGD:1606286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11847082 SCCPDH saccharopine dehydrogenase (putative) gene DOID:630 genetic disease ISO RGD:1606286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847082 SCCPDH saccharopine dehydrogenase (putative) gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11847098 TDRD10 tudor domain containing 10 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1605585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11847098 TDRD10 tudor domain containing 10 gene DOID:0060257 dyschromatosis symmetrica hereditaria ISO RGD:1605585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities PMID:22974014|PMID:28492532 11847098 TDRD10 tudor domain containing 10 gene DOID:0111940 immunodeficiency 42 ISO RGD:1605585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11847098 TDRD10 tudor domain containing 10 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11847098 TDRD10 tudor domain containing 10 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 11847098 TDRD10 tudor domain containing 10 gene DOID:1540 parathyroid carcinoma ISO RGD:1605585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11847098 TDRD10 tudor domain containing 10 gene DOID:5812 MHC class II deficiency ISO RGD:1605585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11847098 TDRD10 tudor domain containing 10 gene DOID:630 genetic disease ISO RGD:1605585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847098 TDRD10 tudor domain containing 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11847121 DMPK DM1 protein kinase gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1320371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 11847121 DMPK DM1 protein kinase gene DOID:11722 myotonic dystrophy type 1 ISO RGD:1320371 D RGD:7240710 20180130 OMIM 11847121 DMPK DM1 protein kinase gene DOID:11722 myotonic dystrophy type 1 ISO RGD:1320371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myotonia atrophica | ClinVar Annotator: match by term: Steinert myotonic dystrophy syndrome PMID:18414213|PMID:25637381|PMID:25741868 11847121 DMPK DM1 protein kinase gene DOID:3490 Noonan syndrome ISO RGD:1320371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 11847121 DMPK DM1 protein kinase gene DOID:450 myotonic disease ISO RGD:1320371 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:24039817|PMID:27030674 11847121 DMPK DM1 protein kinase gene DOID:630 genetic disease ISO RGD:1320371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11847121 DMPK DM1 protein kinase gene DOID:9008993 Myotonia ISO RGD:1320371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039817 11847165 ST14 ST14 transmembrane serine protease matriptase gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:733374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26599507 11847165 ST14 ST14 transmembrane serine protease matriptase gene DOID:0050474 Netherton syndrome ISO RGD:733374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20657595 11847165 ST14 ST14 transmembrane serine protease matriptase gene DOID:0060074 ductal carcinoma in situ ISO RGD:733374 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17163404|REF_RGD_ID:2315089 11847165 ST14 ST14 transmembrane serine protease matriptase gene DOID:0060720 autosomal recessive congenital ichthyosis 11 ISO RGD:733374 D RGD:7240710 20180130 OMIM 11847165 ST14 ST14 transmembrane serine protease matriptase gene DOID:0060720 autosomal recessive congenital ichthyosis 11 ISO RGD:733374 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 11 PMID:12207612|PMID:17273967|PMID:18445049|PMID:18843291|PMID:25741868|PMID:28492532|PMID:29611532|PMID:9450882 11847165 ST14 ST14 transmembrane serine protease matriptase gene DOID:0080600 COVID-19 ISO RGD:733374 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11847165 ST14 ST14 transmembrane serine protease matriptase gene DOID:0111723 Jacobsen Syndrome ISO RGD:733374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11847165 ST14 ST14 transmembrane serine protease matriptase gene DOID:12894 Sjogren's syndrome ISO RGD:733375 D RGD:9068941 20220825 MouseDO OMIM:270150 11847165 ST14 ST14 transmembrane serine protease matriptase gene DOID:2999 granulosa cell tumor ISO RGD:733374 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:16439987|REF_RGD_ID:2315091 11847165 ST14 ST14 transmembrane serine protease matriptase gene DOID:4441 dysgerminoma ISO RGD:733374 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:16439987|REF_RGD_ID:2315091 11847165 ST14 ST14 transmembrane serine protease matriptase gene DOID:4450 renal cell carcinoma ISO RGD:733374 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:16501837|REF_RGD_ID:2315090 11847165 ST14 ST14 transmembrane serine protease matriptase gene DOID:5419 schizophrenia ISO RGD:733374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11847165 ST14 ST14 transmembrane serine protease matriptase gene DOID:630 genetic disease ISO RGD:733374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11847165 ST14 ST14 transmembrane serine protease matriptase gene DOID:8634 prostate carcinoma in situ ISO RGD:733374 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18813126|REF_RGD_ID:2315088 11847165 ST14 ST14 transmembrane serine protease matriptase gene DOID:9000081 Lymphatic Metastasis ISO RGD:733374 D RGD:9068941 20200609 RGD associated with Endometrial Neoplasms PMID:19443387|REF_RGD_ID:2315087 11847165 ST14 ST14 transmembrane serine protease matriptase gene DOID:9000965 Neoplasm Metastasis ISO RGD:733374 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:17456594|REF_RGD_ID:2315092 11847165 ST14 ST14 transmembrane serine protease matriptase gene DOID:9000965 Neoplasm Metastasis ISO RGD:733374 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:18813126|REF_RGD_ID:2315088 11847165 ST14 ST14 transmembrane serine protease matriptase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11847165 ST14 ST14 transmembrane serine protease matriptase gene DOID:9002189 High Myopia ISO RGD:733374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11847165 ST14 ST14 transmembrane serine protease matriptase gene DOID:9002304 Prostatic Neoplasms ISO RGD:733374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11847165 ST14 ST14 transmembrane serine protease matriptase gene DOID:9002304 Prostatic Neoplasms ISO RGD:733374 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18813126|REF_RGD_ID:2315088 11847165 ST14 ST14 transmembrane serine protease matriptase gene DOID:9002762 Ovarian Neoplasms ISO RGD:733374 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:16439987|REF_RGD_ID:2315091 11847165 ST14 ST14 transmembrane serine protease matriptase gene DOID:9003373 Uterine Cervical Neoplasms severity ISO RGD:733374 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:uterine cervix PMID:16021568|REF_RGD_ID:2315093 11847165 ST14 ST14 transmembrane serine protease matriptase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11847165 ST14 ST14 transmembrane serine protease matriptase gene DOID:9004265 Endometrioid Carcinomas ISO RGD:733374 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms;protein:increased expression:ovary PMID:16439987|REF_RGD_ID:2315091 11847165 ST14 ST14 transmembrane serine protease matriptase gene DOID:9007661 Dwarfism ISO RGD:733374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11847165 ST14 ST14 transmembrane serine protease matriptase gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:733374 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:19443387|REF_RGD_ID:2315087 11847165 ST14 ST14 transmembrane serine protease matriptase gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:733374 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17163404|REF_RGD_ID:2315089 11847187 ARL6 ADP ribosylation factor like GTPase 6 gene DOID:0050572 cone-rod dystrophy ISO RGD:1313618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868 11847187 ARL6 ADP ribosylation factor like GTPase 6 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1313618 D RGD:7240710 20180130 OMIM 11847187 ARL6 ADP ribosylation factor like GTPase 6 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1313618 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of PMID:15258860|PMID:15314642|PMID:19236846|PMID:19858128|PMID:20142850|PMID:22334370|PMID:25741868|PMID:26355662|PMID:27124789|PMID:27486776|PMID:28005406|PMID:28130426|PMID:28492532|PMID:31054281|PMID:31736247|PMID:32906206|PMID:33090715|PMID:35457050|PMID:9714014 11847187 ARL6 ADP ribosylation factor like GTPase 6 gene DOID:0110125 Bardet-Biedl syndrome 3 ISO RGD:1313618 D RGD:7240710 20180130 OMIM 11847187 ARL6 ADP ribosylation factor like GTPase 6 gene DOID:0110125 Bardet-Biedl syndrome 3 ISO RGD:1313618 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 3 PMID:15258860|PMID:15314642|PMID:16199547|PMID:17160889|PMID:17576681|PMID:19236846|PMID:19858128|PMID:20142850|PMID:20177705|PMID:20498079|PMID:22334370|PMID:22410627|PMID:23219996|PMID:24400638|PMID:25741868|PMID:26355662|PMID:27124789|PMID:27383656|PMID:27486776|PMID:27708425|PMID:28005406|PMID:28041643|PMID:28130426|PMID:28492532|PMID:29806606|PMID:31054281|PMID:31456290|PMID:31736247|PMID:32361989|PMID:32906206|PMID:33090715|PMID:33946315|PMID:34716235|PMID:35457050|PMID:7987310|PMID:8298649|PMID:9536098|PMID:9714014 11847187 ARL6 ADP ribosylation factor like GTPase 6 gene DOID:0110370 retinitis pigmentosa 55 ISO RGD:1313618 D RGD:7240710 20180130 OMIM 11847187 ARL6 ADP ribosylation factor like GTPase 6 gene DOID:0110370 retinitis pigmentosa 55 ISO RGD:1313618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 55 PMID:15258860|PMID:19858128|PMID:19956407|PMID:20142850|PMID:21282186|PMID:22334370|PMID:27486776|PMID:28492532|PMID:31736247 11847187 ARL6 ADP ribosylation factor like GTPase 6 gene DOID:10584 retinitis pigmentosa ISO RGD:1313618 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15314642|PMID:17160889|PMID:19236846|PMID:19858128|PMID:19956407|PMID:20177705|PMID:20498079|PMID:21282186|PMID:22410627|PMID:23219996|PMID:25741868|PMID:26355662|PMID:27124789|PMID:28005406|PMID:28041643|PMID:28130426|PMID:28492532|PMID:32906206|PMID:33090715|PMID:33946315|PMID:35457050 11847187 ARL6 ADP ribosylation factor like GTPase 6 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1313618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:15258860|PMID:19858128|PMID:20142850|PMID:22334370|PMID:22773737|PMID:25741868|PMID:26355662|PMID:27124789|PMID:27486776|PMID:28005406|PMID:28130426|PMID:28492532|PMID:31456290|PMID:31736247|PMID:32531858|PMID:32906206|PMID:33090715|PMID:35457050|PMID:7987310|PMID:8298649 11847187 ARL6 ADP ribosylation factor like GTPase 6 gene DOID:630 genetic disease ISO RGD:1313618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11847187 ARL6 ADP ribosylation factor like GTPase 6 gene DOID:9008296 Eye Abnormalities ISO RGD:1313618 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868 11847229 RAD54B RAD54 homolog B gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1604371 D RGD:7240710 20180130 OMIM 11847229 RAD54B RAD54 homolog B gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1604371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:10362364|PMID:28492532 11847229 RAD54B RAD54 homolog B gene DOID:1520 colon carcinoma ISO RGD:1604371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:10362364 11847229 RAD54B RAD54 homolog B gene DOID:630 genetic disease ISO RGD:1604371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847229 RAD54B RAD54 homolog B gene DOID:9008443 Colorectal Neoplasms ISO RGD:1604371 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 11847229 RAD54B RAD54 homolog B gene DOID:9256 colorectal cancer ISO RGD:1604371 D RGD:7240710 20200226 OMIM 11847248 EPYC epiphycan gene DOID:630 genetic disease ISO RGD:1314212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847263 NR1H3 nuclear receptor subfamily 1 group H member 3 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:733364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11847263 NR1H3 nuclear receptor subfamily 1 group H member 3 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:61909 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 11847263 NR1H3 nuclear receptor subfamily 1 group H member 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:733364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 11847263 NR1H3 nuclear receptor subfamily 1 group H member 3 gene DOID:1059 intellectual disability ISO RGD:733364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11847263 NR1H3 nuclear receptor subfamily 1 group H member 3 gene DOID:10787 premature menopause ISO RGD:61909 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 11847263 NR1H3 nuclear receptor subfamily 1 group H member 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:733364 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 11847263 NR1H3 nuclear receptor subfamily 1 group H member 3 gene DOID:13580 cholestasis ISO RGD:733364 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17256725 11847263 NR1H3 nuclear receptor subfamily 1 group H member 3 gene DOID:2377 multiple sclerosis ISO RGD:733364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple sclerosis PMID:27253448 11847263 NR1H3 nuclear receptor subfamily 1 group H member 3 gene DOID:5425 ovarian hyperstimulation syndrome ISO RGD:62202 D RGD:9068941 20220825 MouseDO OMIM:608115 11847263 NR1H3 nuclear receptor subfamily 1 group H member 3 gene DOID:630 genetic disease ISO RGD:733364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847263 NR1H3 nuclear receptor subfamily 1 group H member 3 gene DOID:9002457 Experimental Arthritis ISO RGD:62202 D RGD:9068941 20200609 RGD PMID:21859686|REF_RGD_ID:6480864 11847263 NR1H3 nuclear receptor subfamily 1 group H member 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733364 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17256725 11847263 NR1H3 nuclear receptor subfamily 1 group H member 3 gene DOID:9452 fatty liver disease ISO RGD:733364 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23651738 11847263 NR1H3 nuclear receptor subfamily 1 group H member 3 gene DOID:9970 obesity ISO RGD:733364 D RGD:9068941 20200609 RGD DNA:polymorphism:multiple PMID:17108812|REF_RGD_ID:1626248 11847263 NR1H3 nuclear receptor subfamily 1 group H member 3 gene DOID:9970 obesity disease_progression ISO RGD:61909 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:25612518|REF_RGD_ID:15045599 11847309 LOC100971996 olfactory receptor 12D3 gene DOID:11372 megacolon ISO RGD:1352207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11847309 LOC100971996 olfactory receptor 12D3 gene DOID:630 genetic disease ISO RGD:1352207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847315 NAPA NSF attachment protein alpha gene DOID:630 genetic disease ISO RGD:733353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847330 SLC25A26 solute carrier family 25 member 26 gene DOID:0111470 combined oxidative phosphorylation deficiency 28 ISO RGD:1318797 D RGD:7240710 20190315 OMIM 11847330 SLC25A26 solute carrier family 25 member 26 gene DOID:0111470 combined oxidative phosphorylation deficiency 28 ISO RGD:1318797 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 28 PMID:25741868|PMID:26522469|PMID:28492532 11847330 SLC25A26 solute carrier family 25 member 26 gene DOID:3320 Tay-Sachs disease ISO RGD:1318797 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:25741868|PMID:26522469 11847330 SLC25A26 solute carrier family 25 member 26 gene DOID:630 genetic disease ISO RGD:1318797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26522469|PMID:28492532 11847330 SLC25A26 solute carrier family 25 member 26 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1318797 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:25741868 11847348 SENP3 SUMO specific peptidase 3 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1323815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11847348 SENP3 SUMO specific peptidase 3 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1323815 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11847348 SENP3 SUMO specific peptidase 3 gene DOID:12177 common variable immunodeficiency ISO RGD:1323815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11847348 SENP3 SUMO specific peptidase 3 gene DOID:2661 myoepithelioma ISO RGD:1323815 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11847348 SENP3 SUMO specific peptidase 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1323815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11847348 SENP3 SUMO specific peptidase 3 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1323815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11847348 SENP3 SUMO specific peptidase 3 gene DOID:630 genetic disease ISO RGD:1323815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847363 TMEM39B transmembrane protein 39B gene DOID:630 genetic disease ISO RGD:1351966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847380 NFAT5 nuclear factor of activated T cells 5 gene DOID:0060031 autoimmune disease of gastrointestinal tract ISO RGD:1319318 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Immunodeficiency and Autoimmune Enterocolopathy PMID:28492532 11847380 NFAT5 nuclear factor of activated T cells 5 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1319318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11847380 NFAT5 nuclear factor of activated T cells 5 gene DOID:630 genetic disease ISO RGD:1319318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11847428 NCK1 NCK adaptor protein 1 gene DOID:1184 nephrotic syndrome ISO RGD:1321736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19443634 11847428 NCK1 NCK adaptor protein 1 gene DOID:576 proteinuria ISO RGD:1321736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19443634 11847428 NCK1 NCK adaptor protein 1 gene DOID:630 genetic disease ISO RGD:1321736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847428 NCK1 NCK adaptor protein 1 gene DOID:9001542 Albuminuria ISO RGD:1321736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19443634 11847428 NCK1 NCK adaptor protein 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1321736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 11847451 SPG21 SPG21 abhydrolase domain containing, maspardin gene DOID:0060245 MAST syndrome ISO RGD:1351182 D RGD:7240710 20180130 OMIM 11847451 SPG21 SPG21 abhydrolase domain containing, maspardin gene DOID:0060245 MAST syndrome ISO RGD:1351182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mast syndrome PMID:14564668|PMID:16199547|PMID:17576681|PMID:24451228|PMID:25741868|PMID:26467025|PMID:28492532|PMID:6024251|PMID:9536098 11847451 SPG21 SPG21 abhydrolase domain containing, maspardin gene DOID:0110935 nemaline myopathy 6 ISO RGD:1351182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055|PMID:28492532 11847451 SPG21 SPG21 abhydrolase domain containing, maspardin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1351182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:14564668|PMID:16199547|PMID:25741868|PMID:26467025|PMID:28492532 11847451 SPG21 SPG21 abhydrolase domain containing, maspardin gene DOID:2476 hereditary spastic paraplegia susceptibility ISO RGD:1351182 D RGD:9068941 20200609 RGD PMID:14564668|REF_RGD_ID:1556574 11847451 SPG21 SPG21 abhydrolase domain containing, maspardin gene DOID:2717 Bloom syndrome ISO RGD:1351182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11847451 SPG21 SPG21 abhydrolase domain containing, maspardin gene DOID:630 genetic disease ISO RGD:1351182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11847451 SPG21 SPG21 abhydrolase domain containing, maspardin gene DOID:9256 colorectal cancer ISO RGD:1351182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11847464 SPDYA speedy/RINGO cell cycle regulator family member A gene DOID:630 genetic disease ISO RGD:1352707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847476 HOXC10 homeobox C10 gene DOID:630 genetic disease ISO RGD:1316332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847476 HOXC10 homeobox C10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11847476 HOXC10 homeobox C10 gene DOID:9004998 Kyphoscoliosis ISO RGD:1307250 D RGD:9068941 20200609 RGD mRNA:decreased expression:verterbra PMID:18327665|REF_RGD_ID:11354896 11847482 SCML2 Scm polycomb group protein like 2 gene DOID:0050902 medulloblastoma ISO RGD:1352337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 11847482 SCML2 Scm polycomb group protein like 2 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1352337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11847482 SCML2 Scm polycomb group protein like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11847482 SCML2 Scm polycomb group protein like 2 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1352337 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:19780792|PMID:21770923|PMID:22872100|PMID:23184456|PMID:25315662|PMID:28492532|PMID:30945684 11847482 SCML2 Scm polycomb group protein like 2 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1352337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11847482 SCML2 Scm polycomb group protein like 2 gene DOID:12849 autistic disorder ISO RGD:1352337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11847482 SCML2 Scm polycomb group protein like 2 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1352337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11847482 SCML2 Scm polycomb group protein like 2 gene DOID:630 genetic disease ISO RGD:1352337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847482 SCML2 Scm polycomb group protein like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11847509 LOC100980013 olfactory receptor 4N2 gene DOID:630 genetic disease ISO RGD:1351369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847517 NDUFC1 NADH:ubiquinone oxidoreductase subunit C1 gene DOID:630 genetic disease ISO RGD:1353150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847536 CTCFL CCCTC-binding factor like gene DOID:630 genetic disease ISO RGD:1313529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847576 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:0060017 CD3epsilon deficiency ISO RGD:735494 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11847576 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:735494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11847576 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:0080690 RASopathy ISO RGD:735494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11847576 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:0081330 glycogen storage disease Ib ISO RGD:735494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 11847576 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:0110644 long QT syndrome 1 ISO RGD:735494 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:25741868|PMID:28492532 11847576 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:0110651 long QT syndrome 10 ISO RGD:735494 D RGD:7240710 20180130 OMIM 11847576 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:0110651 long QT syndrome 10 ISO RGD:735494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:16199547|PMID:17576681|PMID:17592081|PMID:20226894|PMID:23174487|PMID:23465283|PMID:23631430|PMID:23861362|PMID:25741868|PMID:28492532|PMID:28837624|PMID:30821358|PMID:30847666|PMID:31043699|PMID:31737537|PMID:9536098 11847576 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:735494 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11847576 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:0111971 immunodeficiency 18 ISO RGD:735494 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11847576 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:0111972 immunodeficiency 19 ISO RGD:735494 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11847576 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:0111973 immunodeficiency 17 ISO RGD:735494 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11847576 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:1059 intellectual disability ISO RGD:735494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11847576 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:735494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 11847576 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:2843 long QT syndrome ISO RGD:735494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 11847576 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:9002990 Familial Atrial Fibrillation 17 ISO RGD:735494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 17 PMID:23604097 11847576 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:735494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11847576 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:735494 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:23861362|PMID:25741868|PMID:28492532 11847576 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:9007 sudden infant death syndrome ISO RGD:735494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:20226894|PMID:23465283|PMID:23861362|PMID:25741868|PMID:28492532|PMID:30821358|PMID:31043699 11847576 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:9007661 Dwarfism ISO RGD:735494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11847588 GDPD1 glycerophosphodiester phosphodiesterase domain containing 1 gene DOID:0050777 Joubert syndrome ISO RGD:1349545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11847588 GDPD1 glycerophosphodiester phosphodiesterase domain containing 1 gene DOID:630 genetic disease ISO RGD:1349545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847605 HSD17B2 hydroxysteroid 17-beta dehydrogenase 2 gene DOID:289 endometriosis ISO RGD:1353008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18815356|PMID:21232532 11847605 HSD17B2 hydroxysteroid 17-beta dehydrogenase 2 gene DOID:630 genetic disease ISO RGD:1353008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847605 HSD17B2 hydroxysteroid 17-beta dehydrogenase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 11847605 HSD17B2 hydroxysteroid 17-beta dehydrogenase 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1353008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23200943 11847614 SPATA3 spermatogenesis associated 3 gene DOID:0060476 Perlman syndrome ISO RGD:1317781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11847614 SPATA3 spermatogenesis associated 3 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1317781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11847614 SPATA3 spermatogenesis associated 3 gene DOID:630 genetic disease ISO RGD:1317781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847622 BHMT2 betaine--homocysteine S-methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1352435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847622 BHMT2 betaine--homocysteine S-methyltransferase 2 gene DOID:674 cleft palate ISO RGD:1352435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 11847622 BHMT2 betaine--homocysteine S-methyltransferase 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1352435 D RGD:9068941 20220616 RGD mRNA:altered expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 11847622 BHMT2 betaine--homocysteine S-methyltransferase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11847622 BHMT2 betaine--homocysteine S-methyltransferase 2 gene DOID:9296 cleft lip ISO RGD:1352435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 11847633 ZBTB20 zinc finger and BTB domain containing 20 gene DOID:0060041 autism spectrum disorder ISO RGD:1351632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11847633 ZBTB20 zinc finger and BTB domain containing 20 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1351632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28220687 11847633 ZBTB20 zinc finger and BTB domain containing 20 gene DOID:0080600 COVID-19 ISO RGD:1351632 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11847633 ZBTB20 zinc finger and BTB domain containing 20 gene DOID:1059 intellectual disability ISO RGD:1351632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11847633 ZBTB20 zinc finger and BTB domain containing 20 gene DOID:12849 autistic disorder ISO RGD:1351632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868 11847633 ZBTB20 zinc finger and BTB domain containing 20 gene DOID:630 genetic disease ISO RGD:1351632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10940247|PMID:25017102|PMID:25741868|PMID:28462983|PMID:28492532 11847633 ZBTB20 zinc finger and BTB domain containing 20 gene DOID:9000217 Stomach Neoplasms ISO RGD:1351632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22037551 11847633 ZBTB20 zinc finger and BTB domain containing 20 gene DOID:9001681 Primrose Syndrome ISO RGD:1351632 D RGD:7240710 20180130 OMIM 11847633 ZBTB20 zinc finger and BTB domain containing 20 gene DOID:9001681 Primrose Syndrome ISO RGD:1351632 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primrose syndrome PMID:21567911|PMID:21910247|PMID:25017102|PMID:25741868|PMID:28327206|PMID:28492532|PMID:29737001|PMID:30256248 11847633 ZBTB20 zinc finger and BTB domain containing 20 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28319090 11847633 ZBTB20 zinc finger and BTB domain containing 20 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351632 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11847633 ZBTB20 zinc finger and BTB domain containing 20 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1351632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11847647 CHRNA6 cholinergic receptor nicotinic alpha 6 subunit gene DOID:0050742 nicotine dependence ISO RGD:733511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20418888 11847647 CHRNA6 cholinergic receptor nicotinic alpha 6 subunit gene DOID:0060001 withdrawal disorder ISO RGD:733511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19644040 11847647 CHRNA6 cholinergic receptor nicotinic alpha 6 subunit gene DOID:0090039 torsion dystonia 6 ISO RGD:733511 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 11847647 CHRNA6 cholinergic receptor nicotinic alpha 6 subunit gene DOID:0111959 immunodeficiency 15B ISO RGD:733511 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 11847647 CHRNA6 cholinergic receptor nicotinic alpha 6 subunit gene DOID:630 genetic disease ISO RGD:733511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847647 CHRNA6 cholinergic receptor nicotinic alpha 6 subunit gene DOID:9001310 Tobacco Use Disorder ISO RGD:733511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28851948 11847647 CHRNA6 cholinergic receptor nicotinic alpha 6 subunit gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:733511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:27726124 11847647 CHRNA6 cholinergic receptor nicotinic alpha 6 subunit gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:733511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 11847666 RGL2 ral guanine nucleotide dissociation stimulator like 2 gene DOID:0050553 JMP syndrome ISO RGD:1347432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11847666 RGL2 ral guanine nucleotide dissociation stimulator like 2 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1347432 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 11847666 RGL2 ral guanine nucleotide dissociation stimulator like 2 gene DOID:630 genetic disease ISO RGD:1347432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847690 TBC1D4 TBC1 domain family member 4 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1345136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11847690 TBC1D4 TBC1 domain family member 4 gene DOID:3138 acanthosis nigricans ISO RGD:1345136 D RGD:9068941 20200609 RGD PMID:19470471|REF_RGD_ID:7248544 11847690 TBC1D4 TBC1 domain family member 4 gene DOID:630 genetic disease ISO RGD:1345136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11847690 TBC1D4 TBC1 domain family member 4 gene DOID:9005905 Type 2 Diabetes Mellitus 5 ISO RGD:1345136 D RGD:7240710 20180130 OMIM 11847690 TBC1D4 TBC1 domain family member 4 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:1345136 D RGD:9068941 20200609 RGD PMID:19470471|REF_RGD_ID:7248544 11847690 TBC1D4 TBC1 domain family member 4 gene DOID:9007692 Insulin Resistance ISO RGD:1345136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Insulin resistance 11847713 RFPL1 ret finger protein like 1 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1348433 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 11847713 RFPL1 ret finger protein like 1 gene DOID:630 genetic disease ISO RGD:1348433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847713 RFPL1 ret finger protein like 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1348433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 11847718 RBM12 RNA binding motif protein 12 gene DOID:0080281 schizophrenia 19 ISO RGD:1343633 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Schizophrenia 19 PMID:28628109 11847718 RBM12 RNA binding motif protein 12 gene DOID:0080281 schizophrenia 19 susceptibility ISO RGD:1343633 D RGD:7240710 20230505 OMIM 11847718 RBM12 RNA binding motif protein 12 gene DOID:2468 psychotic disorder ISO RGD:1343633 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:28628109 11847718 RBM12 RNA binding motif protein 12 gene DOID:630 genetic disease ISO RGD:1343633 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847772 LPCAT3 lysophosphatidylcholine acyltransferase 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1604396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11847772 LPCAT3 lysophosphatidylcholine acyltransferase 3 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1604396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11847772 LPCAT3 lysophosphatidylcholine acyltransferase 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1604396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11847772 LPCAT3 lysophosphatidylcholine acyltransferase 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1604396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11847772 LPCAT3 lysophosphatidylcholine acyltransferase 3 gene DOID:0111621 Temtamy syndrome ISO RGD:1604396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11847772 LPCAT3 lysophosphatidylcholine acyltransferase 3 gene DOID:630 genetic disease ISO RGD:1604396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847772 LPCAT3 lysophosphatidylcholine acyltransferase 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1604396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11847793 TTR transthyretin gene DOID:0050451 Brugada syndrome ISO RGD:737331 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:10439123|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29875424|PMID:31371117|PMID:35903975 11847793 TTR transthyretin gene DOID:0050638 transthyretin amyloidosis ISO RGD:737331 D RGD:7240710 20180130 OMIM 11847793 TTR transthyretin gene DOID:0050638 transthyretin amyloidosis ISO RGD:737331 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED | ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis | ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis | ClinVar Annotator: match by term: Transthyretin amyloidosis PMID:10036587|PMID:10071047|PMID:10211412|PMID:10439117|PMID:10439123|PMID:10449136|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10611949|PMID:10611950|PMID:10671063|PMID:10677864|PMID:10762172|PMID:10772944|PMID:10794728|PMID:10842705|PMID:10842715|PMID:10842720|PMID:10845569|PMID:10923048|PMID:10924339|PMID:11243784|PMID:11261421|PMID:11385707|PMID:11445644|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11812437|PMID:11866053|PMID:11940682|PMID:12000195|PMID:12000196|PMID:12039669|PMID:12050338|PMID:12217248|PMID:12351683|PMID:12433265|PMID:12440483|PMID:12440486|PMID:12557757|PMID:12557758|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12757474|PMID:12762139|PMID:12771253|PMID:12779320|PMID:12874413|PMID:12874414|PMID:12874858|PMID:1301926|PMID:1330202|PMID:1335038|PMID:13367520|PMID:1351039|PMID:1353008|PMID:1353861|PMID:1355416|PMID:1356051|PMID:1358785|PMID:13593935|PMID:1362222|PMID:13894830|PMID:1436517|PMID:14404854|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14640031|PMID:14673473|PMID:14695346|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15110620|PMID:15123043|PMID:15185492|PMID:1520326|PMID:1520336|PMID:15205369|PMID:15214015|PMID:15217993|PMID:15249622|PMID:15299640|PMID:15377697|PMID:1544214|PMID:15478468|PMID:1547960|PMID:15523922|PMID:15645642|PMID:1570831|PMID:15735344|PMID:15753613|PMID:15793844|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16076613|PMID:1618497|PMID:16194874|PMID:16194875|PMID:16199547|PMID:1626556|PMID:1626570|PMID:16357452|PMID:16362527|PMID:16387053|PMID:16399646|PMID:16432141|PMID:16439621|PMID:1644201|PMID:16448460|PMID:16530227|PMID:1656975|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17028027|PMID:17062380|PMID:17143887|PMID:17251346|PMID:1729888|PMID:1729893|PMID:17338921|PMID:1734866|PMID:17431395|PMID:17431450|PMID:17453626|PMID:17484624|PMID:17503405|PMID:17551924|PMID:17554795|PMID:17576681|PMID:17577687|PMID:17577688|PMID:17698792|PMID:1786038|PMID:17968687|PMID:17968690|PMID:18022643|PMID:18042262|PMID:18069997|PMID:18074076|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:1850191|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19291509|PMID:1932142|PMID:19364362|PMID:19365058|PMID:19372189|PMID:19428025|PMID:19467548|PMID:19491989|PMID:19602727|PMID:19644733|PMID:19709674|PMID:19752327|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:19922332|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:20536403|PMID:20558946|PMID:2063870|PMID:20660862|PMID:20686303|PMID:20697105|PMID:20714957|PMID:20840742|PMID:20937937|PMID:20981092|PMID:2122246|PMID:21406045|PMID:21490715|PMID:21520333|PMID:21540676|PMID:21550574|PMID:21557933|PMID:21600538|PMID:2161654|PMID:21692911|PMID:2174830|PMID:21749890|PMID:21843040|PMID:21992998|PMID:22083004|PMID:22106346|PMID:22149423|PMID:22184092|PMID:22187309|PMID:22209138|PMID:22320251|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22400056|PMID:22412233|PMID:22449240|PMID:22494066|PMID:22531659|PMID:22551192|PMID:22580845|PMID:22592564|PMID:22620962|PMID:22620967|PMID:22745357|PMID:22747647|PMID:22877808|PMID:22928869|PMID:22973891|PMID:22995991|PMID:23080516|PMID:23126592|PMID:23193944|PMID:2320592|PMID:23240369|PMID:23278526|PMID:23279339|PMID:23317988|PMID:23346293|PMID:23387326|PMID:23438977|PMID:2349941|PMID:23523753|PMID:23580146|PMID:2360796|PMID:2363717|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23905621|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24053266|PMID:24061768|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24356794|PMID:24358189|PMID:24368466|PMID:24412190|PMID:24455802|PMID:24474780|PMID:24480837|PMID:24517438|PMID:24555660|PMID:24563469|PMID:24601850|PMID:24613567|PMID:24633258 11847793 TTR transthyretin gene DOID:0050638 transthyretin amyloidosis ISO RGD:737331 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED | ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis | ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis | ClinVar Annotator: match by term: Transthyretin amyloidosis PMID:24650283|PMID:24664531|PMID:24767411|PMID:24779883|PMID:24800914|PMID:24818650|PMID:24953234|PMID:24955979|PMID:25037766|PMID:25044787|PMID:2510740|PMID:25130926|PMID:25211232|PMID:25291558|PMID:25311081|PMID:25395306|PMID:25408161|PMID:25412400|PMID:25430583|PMID:25488473|PMID:25519307|PMID:25525159|PMID:25526974|PMID:25550818|PMID:25551524|PMID:25628512|PMID:25636337|PMID:2564060|PMID:25644864|PMID:25721874|PMID:25741868|PMID:25743335|PMID:25743445|PMID:25819286|PMID:25828388|PMID:25846356|PMID:25857202|PMID:2590199|PMID:25973863|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:26123280|PMID:2613237|PMID:26156087|PMID:26208957|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26342004|PMID:26361241|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26529114|PMID:26537620|PMID:26587769|PMID:26656838|PMID:26894299|PMID:26959691|PMID:26984605|PMID:26986100|PMID:27025994|PMID:27033334|PMID:27066555|PMID:2714785|PMID:27188913|PMID:27212199|PMID:27238058|PMID:27249223|PMID:27273296|PMID:27350016|PMID:27386769|PMID:27466465|PMID:27501389|PMID:27519456|PMID:27532257|PMID:27562180|PMID:27584576|PMID:27589730|PMID:27618855|PMID:27646980|PMID:27652282|PMID:27720586|PMID:27724962|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27858761|PMID:27859927|PMID:27885756|PMID:28188196|PMID:28272196|PMID:28335735|PMID:28393577|PMID:2840822|PMID:28460244|PMID:28475415|PMID:28484271|PMID:28492532|PMID:28494620|PMID:2856994|PMID:2857043|PMID:28635949|PMID:28646538|PMID:28762097|PMID:2877582|PMID:28798025|PMID:28802308|PMID:28878402|PMID:28882124|PMID:28911993|PMID:2891727|PMID:2896079|PMID:28991715|PMID:29121657|PMID:29246775|PMID:29277593|PMID:29322995|PMID:29407121|PMID:29423915|PMID:29455155|PMID:29493581|PMID:29520877|PMID:29524093|PMID:29540472|PMID:29607936|PMID:29764897|PMID:29801893|PMID:2981253|PMID:29875424|PMID:29883834|PMID:29941560|PMID:30019395|PMID:30039724|PMID:30070416|PMID:30093168|PMID:3011930|PMID:30198232|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30226982|PMID:30243104|PMID:3030336|PMID:30306720|PMID:30311386|PMID:30328212|PMID:30336828|PMID:30350904|PMID:30361054|PMID:30553273|PMID:30572722|PMID:30604309|PMID:30683924|PMID:30685801|PMID:30811423|PMID:30813263|PMID:30847666|PMID:30938420|PMID:30953182|PMID:3097057|PMID:31006018|PMID:31018485|PMID:31074293|PMID:31103217|PMID:31135624|PMID:31139689|PMID:31257920|PMID:31343308|PMID:31343348|PMID:31348283|PMID:31359320|PMID:31371117|PMID:31502881|PMID:31554435|PMID:31589614|PMID:31648569|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:3178532|PMID:31821430|PMID:31919945|PMID:31932463|PMID:31980526|PMID:32000831|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32393063|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32746448|PMID:32749600|PMID:32789836|PMID:32852783|PMID:32861330|PMID:32880476|PMID:32893242|PMID:32925285|PMID:33038745|PMID:33114611|PMID:33283548|PMID:33345470|PMID:33373035|PMID:3340821|PMID:33411102|PMID:33726816|PMID:33739616|PMID:33844361|PMID:34024775|PMID:34317109|PMID:34380564|PMID:34391735|PMID:34440326|PMID:3457802|PMID:34658264|PMID:3479441|PMID:35451899|PMID:35717381|PMID:35903975|PMID:35933469|PMID:3627183|PMID:3676699|PMID:3722385|PMID:3760189|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:4884226|PMID:4952599|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6099706|PMID:6100724|PMID:6168726|PMID:6208668|PMID:6300852|PMID:6310716|PMID:6311926|PMID:6487335|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:6801514|PMID:7018469|PMID:7389759|PMID:7417777|PMID:7599630|PMID:7608709|PMID:7643356|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7850982|PMID:7868124|PMID:7906282|PMID:7910950|PMID:7914929|PMID:7923855|PMID:7951260|PMID:8038017|PMID:8064809|PMID:8071954|PMID:8081397|PMID:8095073|PMID:8095301|PMID:8095302|PMID:8100581|PMID:8102146 11847793 TTR transthyretin gene DOID:0050638 transthyretin amyloidosis ISO RGD:737331 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED | ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis | ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis | ClinVar Annotator: match by term: Transthyretin amyloidosis PMID:8133316|PMID:8194279|PMID:8218290|PMID:8257997|PMID:8275943|PMID:8309582|PMID:8345041|PMID:8352764|PMID:8406434|PMID:8428916|PMID:8509786|PMID:8536704|PMID:8563114|PMID:8579098|PMID:8692810|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:8960746|PMID:8990019|PMID:9017939|PMID:9017946|PMID:9066351|PMID:9090525|PMID:9196903|PMID:9215058|PMID:9268242|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9536098|PMID:9547003|PMID:9605286|PMID:9627498|PMID:9701270|PMID:9748014|PMID:9748569|PMID:9771673|PMID:9798666|PMID:9818054|PMID:9818883|PMID:9843084 11847793 TTR transthyretin gene DOID:0050700 cardiomyopathy ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10211412|PMID:10439123|PMID:10453736|PMID:10465115|PMID:10506096|PMID:10529370|PMID:10762172|PMID:10772944|PMID:10842715|PMID:11243784|PMID:11385707|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12000195|PMID:12050338|PMID:12217248|PMID:12351683|PMID:12433265|PMID:12440486|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14673473|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15123043|PMID:15185492|PMID:15217993|PMID:15249622|PMID:1547960|PMID:15523922|PMID:1570831|PMID:15735344|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:1626556|PMID:16362527|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17251346|PMID:1729893|PMID:17431395|PMID:17431450|PMID:17503405|PMID:17551924|PMID:17577687|PMID:17698792|PMID:17968687|PMID:18042262|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19364362|PMID:19428025|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20660862|PMID:20840742|PMID:20981092|PMID:2122246|PMID:21557933|PMID:21600538|PMID:2174830|PMID:21992998|PMID:22083004|PMID:22184092|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22449240|PMID:22531659|PMID:22592564|PMID:22620962|PMID:22745357|PMID:22877808|PMID:22995991|PMID:23080516|PMID:2320592|PMID:23387326|PMID:2349941|PMID:23580146|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24356794|PMID:24455802|PMID:24474780|PMID:24503780|PMID:24517438|PMID:24555660|PMID:24601850|PMID:24633258|PMID:24800914|PMID:24818650|PMID:24955979|PMID:25311081|PMID:25395306|PMID:25430583|PMID:25519307|PMID:25525159|PMID:25550818|PMID:25551524|PMID:25628512|PMID:2564060|PMID:25741868|PMID:25743335|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26537620|PMID:26587769|PMID:26959691|PMID:27033334|PMID:2714785|PMID:27188913|PMID:27249223|PMID:27386769|PMID:27532257|PMID:27562180|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27885756|PMID:2840822|PMID:28475415|PMID:28492532|PMID:2856994|PMID:2857043|PMID:28635949|PMID:2896079|PMID:29121657|PMID:29493581|PMID:29520877|PMID:29540472|PMID:29764897|PMID:2981253|PMID:29875424|PMID:30019395|PMID:30093168|PMID:3011930|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30243104|PMID:3030336|PMID:30328212|PMID:30572722|PMID:30683924|PMID:30813263|PMID:30938420|PMID:30953182|PMID:3097057|PMID:31135624|PMID:31139689|PMID:31343348|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31919945|PMID:31980526|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32852783|PMID:32880476|PMID:32893242|PMID:33373035|PMID:33726816|PMID:33739616|PMID:3457802|PMID:3479441|PMID:35903975|PMID:3627183|PMID:3676699|PMID:3722385|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:6801514|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7868124|PMID:7906282|PMID:7923855 11847793 TTR transthyretin gene DOID:0050700 cardiomyopathy ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:8064809|PMID:8071954|PMID:8095073|PMID:8100581|PMID:8102146|PMID:8194279|PMID:8275943|PMID:8345041|PMID:8428916|PMID:8563114|PMID:8698351|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9268242|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9818054|PMID:9818883 11847793 TTR transthyretin gene DOID:0050860 colorectal adenoma ISO RGD:737331 D RGD:9068941 20220310 RGD protein:decreased expression:blood serum (human) PMID:21136704|REF_RGD_ID:151664608 11847793 TTR transthyretin gene DOID:0050860 colorectal adenoma ISO RGD:737331 D RGD:9068941 20220317 RGD protein:decreased expression:colorectum (human) PMID:33739034|REF_RGD_ID:151660505 11847793 TTR transthyretin gene DOID:0050866 oral squamous cell carcinoma ISO RGD:737331 D RGD:9068941 20220310 RGD protein:increased expression:saliva (human) PMID:23784731|REF_RGD_ID:151664609 11847793 TTR transthyretin gene DOID:0080219 dystransthyretinemic hyperthyroxinemia ISO RGD:737331 D RGD:7240710 20180130 OMIM 11847793 TTR transthyretin gene DOID:0080219 dystransthyretinemic hyperthyroxinemia ISO RGD:737331 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: EUTHRYROIDAL HYPERTHYROXINEMIA 2 | ClinVar Annotator: match by term: Hyperthyroxinemia, dystransthyretinemic PMID:10211412|PMID:10439123|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10611950|PMID:10671063|PMID:10762172|PMID:10842715|PMID:10923048|PMID:11385707|PMID:11523162|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11866053|PMID:11940682|PMID:12039669|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12566023|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1335038|PMID:1351039|PMID:1353008|PMID:1358785|PMID:14569203|PMID:14640030|PMID:14640031|PMID:14673473|PMID:1490495|PMID:14986482|PMID:15123043|PMID:15185492|PMID:15249622|PMID:15299640|PMID:1547960|PMID:15523922|PMID:15645642|PMID:1570831|PMID:15753613|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17062380|PMID:17251346|PMID:17338921|PMID:17503405|PMID:17551924|PMID:17554795|PMID:17698792|PMID:1786038|PMID:18022643|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18460047|PMID:18506713|PMID:18606975|PMID:1867256|PMID:18830126|PMID:18863976|PMID:18925456|PMID:192115|PMID:19364362|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:2063870|PMID:20697105|PMID:20714957|PMID:20840742|PMID:20937937|PMID:20981092|PMID:21520333|PMID:21540676|PMID:21600538|PMID:21692911|PMID:21749890|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22382560|PMID:22412233|PMID:22531659|PMID:22551192|PMID:22592564|PMID:22620962|PMID:22620967|PMID:22745357|PMID:22877808|PMID:22928869|PMID:22995991|PMID:23080516|PMID:23193944|PMID:2320592|PMID:23240369|PMID:23279339|PMID:23387326|PMID:2349941|PMID:2363717|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24053266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24356794|PMID:24455802|PMID:24474780|PMID:24480837|PMID:24517438|PMID:24555660|PMID:24563469|PMID:24601850|PMID:24633258|PMID:24767411|PMID:24800914|PMID:24818650|PMID:25395306|PMID:25519307|PMID:25525159|PMID:25550818|PMID:25551524|PMID:25636337|PMID:2564060|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25973863|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:26208957|PMID:2624269|PMID:26243339|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26529114|PMID:26537620|PMID:26587769|PMID:26894299|PMID:27025994|PMID:27066555|PMID:2714785|PMID:27188913|PMID:27273296|PMID:27350016|PMID:27386769|PMID:27532257|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:28188196|PMID:2840822|PMID:28475415|PMID:28492532|PMID:2856994|PMID:2857043|PMID:28635949|PMID:28762097|PMID:2877582|PMID:28798025|PMID:28882124|PMID:2891727|PMID:2896079|PMID:29121657|PMID:29407121|PMID:29423915|PMID:29493581|PMID:29520877|PMID:29540472|PMID:29607936|PMID:29764897|PMID:29875424|PMID:30019395|PMID:30070416|PMID:30093168|PMID:3011930|PMID:30198232|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30243104|PMID:3030336|PMID:30306720|PMID:30328212|PMID:30336828|PMID:30350904|PMID:30361054|PMID:30572722|PMID:30683924|PMID:30811423|PMID:30813263|PMID:30847666|PMID:30938420|PMID:30953182|PMID:31006018|PMID:31018485|PMID:31103217|PMID:31135624|PMID:31139689|PMID:31343308|PMID:31343348|PMID:31348283|PMID:31359320|PMID:31371117|PMID:31502881|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31919945|PMID:31980526|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32746448|PMID:32852783|PMID:32880476|PMID:32893242|PMID:32925285|PMID:33373035|PMID:33411102|PMID:33726816|PMID:33739616|PMID:3457802|PMID:34658264|PMID:3479441|PMID:35903975|PMID:3627183|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249 11847793 TTR transthyretin gene DOID:0080219 dystransthyretinemic hyperthyroxinemia ISO RGD:737331 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: EUTHRYROIDAL HYPERTHYROXINEMIA 2 | ClinVar Annotator: match by term: Hyperthyroxinemia, dystransthyretinemic PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:6801514|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7839813|PMID:7868124|PMID:7914929|PMID:8038017|PMID:8064809|PMID:8071954|PMID:8081397|PMID:8095073|PMID:8100581|PMID:8133316|PMID:8194279|PMID:8275943|PMID:8345041|PMID:8428916|PMID:8509786|PMID:8563114|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9268242|PMID:9475090|PMID:9748014|PMID:9771673 11847793 TTR transthyretin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737331 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25741868|PMID:26537620|PMID:28492532|PMID:30683924|PMID:31554435 11847793 TTR transthyretin gene DOID:0110081 arrhythmogenic right ventricular dysplasia 10 ISO RGD:737331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 PMID:28492532 11847793 TTR transthyretin gene DOID:0110269 cataract 3 multiple types ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CATARACT 3, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA PMID:10211412|PMID:10762172|PMID:10842715|PMID:11385707|PMID:11752419|PMID:11752443|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14640030|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:19781421|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31135624|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32674397|PMID:3627183|PMID:3934968|PMID:7868124|PMID:8698351|PMID:9017939 11847793 TTR transthyretin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737331 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:1355416|PMID:14640030|PMID:15185492|PMID:1850190|PMID:19428025|PMID:1997217|PMID:2174830|PMID:22332999|PMID:24033266|PMID:24955979|PMID:25741868|PMID:2590199|PMID:26537620|PMID:28492532|PMID:30683924|PMID:31554435|PMID:6736244|PMID:7923855|PMID:8102146|PMID:9090525 11847793 TTR transthyretin gene DOID:0110351 osteogenesis imperfecta type 11 ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type XI PMID:10211412|PMID:10762172|PMID:10842715|PMID:11385707|PMID:11752419|PMID:11752443|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14640030|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:19781421|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31135624|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32674397|PMID:3627183|PMID:3934968|PMID:7868124|PMID:8698351|PMID:9017939 11847793 TTR transthyretin gene DOID:10534 stomach cancer severity ISO RGD:737331 D RGD:9068941 20220310 RGD protein:decreased expression:blood serum (human) PMID:29804846|REF_RGD_ID:151664603 11847793 TTR transthyretin gene DOID:1059 intellectual disability ISO RGD:737331 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11847793 TTR transthyretin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10439123|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10762172|PMID:10772944|PMID:10842715|PMID:11243784|PMID:11385707|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11812437|PMID:11866053|PMID:11940682|PMID:12000195|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12440486|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:14569203|PMID:14640030|PMID:14673473|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15123043|PMID:15185492|PMID:1520326|PMID:15217993|PMID:15249622|PMID:1544214|PMID:1547960|PMID:15523922|PMID:1570831|PMID:15735344|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:1626556|PMID:16362527|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17251346|PMID:1729893|PMID:17431395|PMID:17431450|PMID:17503405|PMID:17551924|PMID:17698792|PMID:17968687|PMID:18042262|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19364362|PMID:19428025|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:19808383|PMID:1981182|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:2063870|PMID:20660862|PMID:20840742|PMID:2122246|PMID:21406045|PMID:21557933|PMID:21600538|PMID:2174830|PMID:21992998|PMID:22083004|PMID:22184092|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22449240|PMID:22620962|PMID:22745357|PMID:22877808|PMID:23080516|PMID:2320592|PMID:23387326|PMID:2349941|PMID:23523753|PMID:23580146|PMID:23638696|PMID:23716704|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24368466|PMID:24455802|PMID:24474780|PMID:24503780|PMID:24517438|PMID:24555660|PMID:24601850|PMID:24633258|PMID:24800914|PMID:24818650|PMID:24955979|PMID:25311081|PMID:25395306|PMID:25430583|PMID:25519307|PMID:25550818|PMID:25551524|PMID:2564060|PMID:25644864|PMID:25741868|PMID:25743335|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26017327|PMID:26088020|PMID:26115788|PMID:26123279|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26521788|PMID:26537620|PMID:26610878|PMID:26894299|PMID:26959691|PMID:27033334|PMID:2714785|PMID:27188913|PMID:27249223|PMID:27364045|PMID:27386769|PMID:27532257|PMID:27562180|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27885756|PMID:28166811|PMID:2840822|PMID:28475415|PMID:28492532|PMID:28494620|PMID:2856994|PMID:2857043|PMID:28635949|PMID:2877582|PMID:28798025|PMID:2891727|PMID:2896079|PMID:29016222|PMID:29048471|PMID:29121657|PMID:29351628|PMID:29493581|PMID:2981253|PMID:3011930|PMID:3022107|PMID:3022108|PMID:3022697|PMID:3030336|PMID:30328212|PMID:30350904|PMID:30683924|PMID:30813263|PMID:30938420|PMID:30953182|PMID:3097057|PMID:31135624|PMID:31139689|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31728576|PMID:31740141|PMID:31821430|PMID:3229002|PMID:32376792|PMID:32674397|PMID:3457802|PMID:3479441|PMID:3627183|PMID:3676699|PMID:3722385|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7868124|PMID:7906282|PMID:7923855|PMID:8064809|PMID:8071954|PMID:8100581|PMID:8102146|PMID:8194279|PMID:8509786|PMID:8563114|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9748014|PMID:9771673|PMID:9818054|PMID:9818883|PMID:9843084 11847793 TTR transthyretin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737331 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10439123|PMID:10453736|PMID:10465115|PMID:10506096|PMID:10529370|PMID:10762172|PMID:10772944|PMID:10842715|PMID:11243784|PMID:11385707|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11812437|PMID:11866053|PMID:11940682|PMID:12000195|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12440486|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14673473|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15123043|PMID:15185492|PMID:1520326|PMID:15217993|PMID:15249622|PMID:1544214|PMID:1547960|PMID:15523922|PMID:1570831|PMID:15735344|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:1626556|PMID:16362527|PMID:16399646|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17251346|PMID:1729893|PMID:17431395|PMID:17431450|PMID:17503405|PMID:17551924|PMID:17698792|PMID:17968687|PMID:18042262|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19364362|PMID:19428025|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:19922332|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20660862|PMID:20840742|PMID:20981092|PMID:2122246|PMID:21406045|PMID:21557933|PMID:21600538|PMID:2174830|PMID:21992998|PMID:22083004|PMID:22184092|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22449240|PMID:22531659|PMID:22592564|PMID:22620962|PMID:22745357|PMID:22877808|PMID:22995991|PMID:23080516|PMID:2320592|PMID:23387326|PMID:2349941|PMID:23523753|PMID:23580146|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24368466|PMID:24455802|PMID:24474780|PMID:24503780|PMID:24517438|PMID:24555660|PMID:24601850|PMID:24633258|PMID:24800914|PMID:24818650|PMID:24955979|PMID:25311081|PMID:25395306|PMID:25430583|PMID:25519307|PMID:25525159|PMID:25550818|PMID:25551524|PMID:2564060|PMID:25644864|PMID:25741868|PMID:25743335|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26537620|PMID:26587769|PMID:26610878|PMID:26894299|PMID:26959691|PMID:27033334|PMID:2714785|PMID:27188913|PMID:27212199|PMID:27249223|PMID:27364045|PMID:27386769|PMID:27532257|PMID:27562180|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27885756|PMID:2840822|PMID:28475415|PMID:28492532|PMID:28494620|PMID:2856994|PMID:2857043|PMID:28635949|PMID:2877582|PMID:2891727|PMID:2896079|PMID:29016222|PMID:29048471|PMID:29121657|PMID:29351628|PMID:29493581|PMID:29520877|PMID:29540472|PMID:29764897|PMID:2981253|PMID:29875424|PMID:30019395|PMID:30093168|PMID:3011930|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30243104|PMID:3030336|PMID:30328212|PMID:30350904|PMID:30572722|PMID:30683924|PMID:30813263|PMID:30938420|PMID:30953182|PMID:3097057|PMID:31135624|PMID:31139689|PMID:31343348|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31919945|PMID:31980526|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32852783|PMID:32880476|PMID:32893242|PMID:33373035|PMID:33726816|PMID:33739616|PMID:3457802|PMID:3479441|PMID:35903975|PMID:3627183|PMID:3676699|PMID:3722385|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991 11847793 TTR transthyretin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737331 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7868124|PMID:7906282|PMID:7923855|PMID:8064809|PMID:8071954|PMID:8100581|PMID:8102146|PMID:8194279|PMID:8509786|PMID:8563114|PMID:8698351|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9268242|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9771673|PMID:9818054|PMID:9818883|PMID:9843084 11847793 TTR transthyretin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:10439123|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10762172|PMID:10772944|PMID:10842715|PMID:11243784|PMID:11385707|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12000195|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12440486|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14673473|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15123043|PMID:15185492|PMID:1520326|PMID:15217993|PMID:15249622|PMID:1544214|PMID:1547960|PMID:15523922|PMID:1570831|PMID:15735344|PMID:15753613|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:1626556|PMID:16362527|PMID:16399646|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17251346|PMID:1729893|PMID:17431395|PMID:17431450|PMID:17503405|PMID:17551924|PMID:17698792|PMID:17968687|PMID:18042262|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19364362|PMID:19428025|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:19922332|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:2063870|PMID:20660862|PMID:20840742|PMID:20981092|PMID:2122246|PMID:21406045|PMID:21557933|PMID:21600538|PMID:2174830|PMID:21992998|PMID:22083004|PMID:22184092|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22449240|PMID:22531659|PMID:22592564|PMID:22620962|PMID:22745357|PMID:22877808|PMID:22995991|PMID:23080516|PMID:2320592|PMID:23240369|PMID:23387326|PMID:2349941|PMID:23523753|PMID:23580146|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24368466|PMID:24455802|PMID:24474780|PMID:24503780|PMID:24517438|PMID:24555660|PMID:24601850|PMID:24633258|PMID:24800914|PMID:24818650|PMID:24955979|PMID:25311081|PMID:25395306|PMID:25430583|PMID:25519307|PMID:25525159|PMID:25550818|PMID:25551524|PMID:2564060|PMID:25741868|PMID:25743335|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26537620|PMID:26587769|PMID:26959691|PMID:27033334|PMID:2714785|PMID:27188913|PMID:27212199|PMID:27249223|PMID:27386769|PMID:27532257|PMID:27562180|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27885756|PMID:2840822|PMID:28475415|PMID:28492532|PMID:2856994|PMID:2857043|PMID:28635949|PMID:2877582|PMID:28798025|PMID:2891727|PMID:2896079|PMID:29121657|PMID:29493581|PMID:29520877|PMID:29540472|PMID:29764897|PMID:2981253|PMID:29875424|PMID:30019395|PMID:30093168|PMID:3011930|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30243104|PMID:3030336|PMID:30328212|PMID:30350904|PMID:30572722|PMID:30683924|PMID:30813263|PMID:30847666|PMID:30938420|PMID:30953182|PMID:3097057|PMID:31135624|PMID:31139689|PMID:31343348|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31919945|PMID:31980526|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32852783|PMID:32880476|PMID:32893242|PMID:33373035|PMID:33726816|PMID:33739616|PMID:3457802|PMID:3479441|PMID:35903975|PMID:3627183|PMID:3676699|PMID:3722385|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668 11847793 TTR transthyretin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7868124|PMID:7906282|PMID:7923855|PMID:8064809|PMID:8071954|PMID:8100581|PMID:8102146|PMID:8194279|PMID:8509786|PMID:8563114|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9268242|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9748014|PMID:9771673|PMID:9818054|PMID:9818883|PMID:9843084 11847793 TTR transthyretin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10211412|PMID:10439123|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10762172|PMID:10772944|PMID:10842715|PMID:11243784|PMID:11385707|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12000195|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12440486|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14673473|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15123043|PMID:15185492|PMID:1520326|PMID:15217993|PMID:15249622|PMID:1544214|PMID:1547960|PMID:15523922|PMID:1570831|PMID:15735344|PMID:15753613|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:1626556|PMID:16362527|PMID:16399646|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17251346|PMID:1729893|PMID:17431395|PMID:17431450|PMID:17503405|PMID:17551924|PMID:17698792|PMID:17968687|PMID:18042262|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19364362|PMID:19428025|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:19922332|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:2063870|PMID:20660862|PMID:20840742|PMID:20981092|PMID:2122246|PMID:21406045|PMID:21557933|PMID:21600538|PMID:2174830|PMID:21992998|PMID:22083004|PMID:22184092|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22449240|PMID:22531659|PMID:22592564|PMID:22620962|PMID:22745357|PMID:22877808|PMID:22995991|PMID:23080516|PMID:2320592|PMID:23240369|PMID:23387326|PMID:2349941|PMID:23523753|PMID:23580146|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24368466|PMID:24455802|PMID:24474780|PMID:24503780|PMID:24517438|PMID:24555660|PMID:24601850|PMID:24633258|PMID:24800914|PMID:24818650|PMID:24955979|PMID:25311081|PMID:25395306|PMID:25430583|PMID:25519307|PMID:25525159|PMID:25550818|PMID:25551524|PMID:2564060|PMID:25741868|PMID:25743335|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26537620|PMID:26587769|PMID:26959691|PMID:27033334|PMID:2714785|PMID:27188913|PMID:27212199|PMID:27249223|PMID:27386769|PMID:27532257|PMID:27562180|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27885756|PMID:2840822|PMID:28475415|PMID:28492532|PMID:2856994|PMID:2857043|PMID:28635949|PMID:2877582|PMID:28798025|PMID:2891727|PMID:2896079|PMID:29121657|PMID:29493581|PMID:29520877|PMID:29540472|PMID:29764897|PMID:2981253|PMID:29875424|PMID:30019395|PMID:30093168|PMID:3011930|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30243104|PMID:3030336|PMID:30328212|PMID:30350904|PMID:30572722|PMID:30683924|PMID:30813263|PMID:30847666|PMID:30938420|PMID:30953182|PMID:3097057|PMID:31135624|PMID:31139689|PMID:31343348|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31919945|PMID:31980526|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32852783|PMID:32880476|PMID:32893242|PMID:33373035|PMID:33726816|PMID:33739616|PMID:3457802|PMID:3479441|PMID:35903975|PMID:3627183|PMID:3676699|PMID:3722385|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724 11847793 TTR transthyretin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7868124|PMID:7906282|PMID:7923855|PMID:8064809|PMID:8071954|PMID:8100581|PMID:8102146|PMID:8194279|PMID:8509786|PMID:8563114|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9268242|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9748014|PMID:9771673|PMID:9818054|PMID:9818883|PMID:9843084 11847793 TTR transthyretin gene DOID:10652 Alzheimer's disease ISO RGD:737331 D RGD:9068941 20200609 RGD PMID:16552785|REF_RGD_ID:1580525 11847793 TTR transthyretin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737331 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:14640030|PMID:20840742|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7868124 11847793 TTR transthyretin gene DOID:12169 carpal tunnel syndrome ISO RGD:737331 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carpal tunnel syndrome | ClinVar Annotator: match by term: Carpal tunnel syndrome, familial PMID:10211412|PMID:10439123|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10611950|PMID:10671063|PMID:10762172|PMID:10842715|PMID:10923048|PMID:11385707|PMID:11523162|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11866053|PMID:11940682|PMID:12039669|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12566023|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1335038|PMID:1351039|PMID:1353008|PMID:1358785|PMID:14569203|PMID:14640030|PMID:14640031|PMID:14673473|PMID:1490495|PMID:14986482|PMID:15123043|PMID:15185492|PMID:15249622|PMID:15299640|PMID:1547960|PMID:15523922|PMID:15645642|PMID:1570831|PMID:15753613|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17062380|PMID:17251346|PMID:17338921|PMID:17503405|PMID:17551924|PMID:17554795|PMID:17698792|PMID:1786038|PMID:18022643|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18460047|PMID:18506713|PMID:18606975|PMID:1867256|PMID:18830126|PMID:18863976|PMID:18925456|PMID:192115|PMID:19364362|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:2063870|PMID:20697105|PMID:20714957|PMID:20840742|PMID:20937937|PMID:20981092|PMID:21520333|PMID:21540676|PMID:21600538|PMID:21692911|PMID:21749890|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22382560|PMID:22412233|PMID:22531659|PMID:22551192|PMID:22592564|PMID:22620962|PMID:22620967|PMID:22745357|PMID:22877808|PMID:22928869|PMID:22995991|PMID:23080516|PMID:23193944|PMID:2320592|PMID:23240369|PMID:23279339|PMID:23387326|PMID:2349941|PMID:2363717|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24053266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24356794|PMID:24455802|PMID:24474780|PMID:24480837|PMID:24517438|PMID:24555660|PMID:24563469|PMID:24601850|PMID:24633258|PMID:24767411|PMID:24800914|PMID:24818650|PMID:25395306|PMID:25519307|PMID:25525159|PMID:25550818|PMID:25551524|PMID:25636337|PMID:2564060|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25973863|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:26208957|PMID:2624269|PMID:26243339|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26529114|PMID:26537620|PMID:26587769|PMID:26894299|PMID:27025994|PMID:27066555|PMID:2714785|PMID:27188913|PMID:27273296|PMID:27350016|PMID:27386769|PMID:27532257|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:28188196|PMID:2840822|PMID:28475415|PMID:28492532|PMID:2856994|PMID:2857043|PMID:28635949|PMID:28762097|PMID:2877582|PMID:28882124|PMID:2891727|PMID:2896079|PMID:29121657|PMID:29407121|PMID:29423915|PMID:29493581|PMID:29520877|PMID:29540472|PMID:29607936|PMID:29764897|PMID:29875424|PMID:30019395|PMID:30070416|PMID:30093168|PMID:3011930|PMID:30198232|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30243104|PMID:3030336|PMID:30306720|PMID:30328212|PMID:30336828|PMID:30350904|PMID:30361054|PMID:30572722|PMID:30683924|PMID:30811423|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31006018|PMID:31018485|PMID:31103217|PMID:31135624|PMID:31139689|PMID:31343308|PMID:31343348|PMID:31348283|PMID:31359320|PMID:31371117|PMID:31502881|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31919945|PMID:31980526|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32746448|PMID:32852783|PMID:32880476|PMID:32893242|PMID:32925285|PMID:33373035|PMID:33411102|PMID:33726816|PMID:33739616|PMID:3457802|PMID:34658264|PMID:3479441|PMID:35903975|PMID:3627183|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991|PMID:5799493 11847793 TTR transthyretin gene DOID:12169 carpal tunnel syndrome ISO RGD:737331 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carpal tunnel syndrome | ClinVar Annotator: match by term: Carpal tunnel syndrome, familial PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:6801514|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7839813|PMID:7868124|PMID:7914929|PMID:8038017|PMID:8064809|PMID:8071954|PMID:8081397|PMID:8095073|PMID:8100581|PMID:8133316|PMID:8194279|PMID:8275943|PMID:8345041|PMID:8428916|PMID:8509786|PMID:8563114|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9268242|PMID:9475090|PMID:9748014|PMID:9771673 11847793 TTR transthyretin gene DOID:12450 pancytopenia ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pancytopenia PMID:10211412|PMID:10762172|PMID:10842715|PMID:11385707|PMID:11752419|PMID:11752443|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14640030|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:19781421|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31135624|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32674397|PMID:3627183|PMID:3934968|PMID:7868124|PMID:8698351|PMID:9017939 11847793 TTR transthyretin gene DOID:12583 velocardiofacial syndrome ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:10211412|PMID:10762172|PMID:10842715|PMID:11385707|PMID:11752419|PMID:11752443|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14640030|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:19781421|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31135624|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32674397|PMID:3627183|PMID:3934968|PMID:7868124|PMID:8698351|PMID:9017939 11847793 TTR transthyretin gene DOID:1324 lung cancer disease_progression ISO RGD:737331 D RGD:9068941 20220310 RGD protein:decreased expression:blood serum (human) PMID:20964562|REF_RGD_ID:151664750 11847793 TTR transthyretin gene DOID:1324 lung cancer sexual_dimorphism ISO RGD:737331 D RGD:9068941 20220310 RGD protein:decreased expression:blood serum (human) PMID:17683510|REF_RGD_ID:151664742 11847793 TTR transthyretin gene DOID:2316 brain ischemia ISO RGD:3916 D RGD:9068941 20200609 RGD PMID:15469881|REF_RGD_ID:1580523 11847793 TTR transthyretin gene DOID:2355 anemia ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anemia PMID:10211412|PMID:10762172|PMID:10842715|PMID:11385707|PMID:11752419|PMID:11752443|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14640030|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:19781421|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31135624|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32674397|PMID:3627183|PMID:3934968|PMID:7868124|PMID:8698351|PMID:9017939 11847793 TTR transthyretin gene DOID:3021 acute kidney failure ISO RGD:737331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 11847793 TTR transthyretin gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency PMID:10211412|PMID:10762172|PMID:10842715|PMID:11385707|PMID:11752419|PMID:11752443|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14640030|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:19781421|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31135624|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32674397|PMID:3627183|PMID:3934968|PMID:7868124|PMID:8698351|PMID:9017939 11847793 TTR transthyretin gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:737331 D RGD:9068941 20220310 RGD protein:decreased expression:blood serum (human) PMID:31031974|REF_RGD_ID:151664739 11847793 TTR transthyretin gene DOID:3910 lung adenocarcinoma ISO RGD:737331 D RGD:9068941 20220317 RGD mRNA,protein:increased expression:lung (human) PMID:26943652|REF_RGD_ID:151665207 11847793 TTR transthyretin gene DOID:4556 lung large cell carcinoma ISO RGD:737331 D RGD:9068941 20220317 RGD protein:increased expression:lung (human) PMID:26943652|REF_RGD_ID:151665207 11847793 TTR transthyretin gene DOID:4829 adenosquamous lung carcinoma ISO RGD:737331 D RGD:9068941 20220317 RGD protein:increased expression:lung (human) PMID:26943652|REF_RGD_ID:151665207 11847793 TTR transthyretin gene DOID:4947 cholangiocarcinoma ISO RGD:737331 D RGD:9068941 20220310 RGD protein:decreased expression:blood serum (human) PMID:18275060|REF_RGD_ID:151660506 11847793 TTR transthyretin gene DOID:4961 bone marrow disease ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bone marrow hypocellularity PMID:10211412|PMID:10762172|PMID:10842715|PMID:11385707|PMID:11752419|PMID:11752443|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14640030|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:19781421|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31135624|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32674397|PMID:3627183|PMID:3934968|PMID:7868124|PMID:8698351|PMID:9017939 11847793 TTR transthyretin gene DOID:5409 lung small cell carcinoma ISO RGD:737331 D RGD:9068941 20220317 RGD protein:increased expression:lung (human) PMID:26943652|REF_RGD_ID:151665207 11847793 TTR transthyretin gene DOID:6000 congestive heart failure ISO RGD:737331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart failure PMID:1355416|PMID:14640030|PMID:15185492|PMID:1850190|PMID:19428025|PMID:1997217|PMID:2174830|PMID:22332999|PMID:24033266|PMID:24955979|PMID:25741868|PMID:2590199|PMID:28492532|PMID:6736244|PMID:7923855|PMID:8102146|PMID:9090525 11847793 TTR transthyretin gene DOID:630 genetic disease ISO RGD:737331 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23914756 11847793 TTR transthyretin gene DOID:684 hepatocellular carcinoma ISO RGD:3916 D RGD:9068941 20220721 RGD protein:increased expression:blood serum (rat) PMID:28876464|REF_RGD_ID:151664602 11847793 TTR transthyretin gene DOID:684 hepatocellular carcinoma ISO RGD:737331 D RGD:9068941 20220317 RGD protein:decreased expression:blood serum (human) PMID:16240287|REF_RGD_ID:151665161 11847793 TTR transthyretin gene DOID:684 hepatocellular carcinoma ISO RGD:737331 D RGD:9068941 20220721 RGD protein:increased expression:blood serum (human) PMID:28876464|REF_RGD_ID:151664602 11847793 TTR transthyretin gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737331 D RGD:9068941 20220210 RGD protein:decreased expression:blood serum (human) PMID:29534342|REF_RGD_ID:151356736 11847793 TTR transthyretin gene DOID:9000081 Lymphatic Metastasis ISO RGD:737331 D RGD:9068941 20220317 RGD associated with colorectal cancer;protein:decreased expresion:blood serum (human) PMID:21074777|REF_RGD_ID:151665155 11847793 TTR transthyretin gene DOID:9000299 cardiac amyloidosis ISO RGD:737331 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY PMID:10036587|PMID:10071047|PMID:10211412|PMID:10439117|PMID:10439123|PMID:10449136|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10611949|PMID:10611950|PMID:10671063|PMID:10677864|PMID:10762172|PMID:10772944|PMID:10794728|PMID:10842705|PMID:10842715|PMID:10842720|PMID:10845569|PMID:10923048|PMID:10924339|PMID:11243784|PMID:11261421|PMID:11385707|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11812437|PMID:11866053|PMID:11940682|PMID:12000195|PMID:12000196|PMID:12039669|PMID:12050338|PMID:12217248|PMID:12351683|PMID:12433265|PMID:12440483|PMID:12440486|PMID:12557758|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12762139|PMID:12771253|PMID:12874413|PMID:12874414|PMID:12874858|PMID:1301926|PMID:1330202|PMID:1335038|PMID:13367520|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:13593935|PMID:13894830|PMID:14404854|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14640031|PMID:14673473|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15110620|PMID:15123043|PMID:15185492|PMID:1520326|PMID:15214015|PMID:15217993|PMID:15249622|PMID:15299640|PMID:1544214|PMID:15478468|PMID:1547960|PMID:15523922|PMID:15645642|PMID:1570831|PMID:15735344|PMID:15753613|PMID:15793844|PMID:15820680|PMID:15930086|PMID:16011990|PMID:1618497|PMID:16194874|PMID:16194875|PMID:1626556|PMID:1626570|PMID:16357452|PMID:16362527|PMID:16387053|PMID:16399646|PMID:16432141|PMID:16439621|PMID:16448460|PMID:16530227|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17062380|PMID:17143887|PMID:17251346|PMID:1729888|PMID:1729893|PMID:17338921|PMID:17431395|PMID:17431450|PMID:17453626|PMID:17484624|PMID:17503405|PMID:17551924|PMID:17554795|PMID:17576681|PMID:17577687|PMID:17577688|PMID:17698792|PMID:1786038|PMID:17968687|PMID:18022643|PMID:18042262|PMID:18069997|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19291509|PMID:1932142|PMID:19364362|PMID:19428025|PMID:19467548|PMID:19491989|PMID:19602727|PMID:19644733|PMID:19709674|PMID:19752327|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:19922332|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:20536403|PMID:20558946|PMID:2063870|PMID:20660862|PMID:20686303|PMID:20697105|PMID:20714957|PMID:20840742|PMID:20937937|PMID:20981092|PMID:2122246|PMID:21406045|PMID:21490715|PMID:21520333|PMID:21540676|PMID:21550574|PMID:21557933|PMID:21600538|PMID:2161654|PMID:21692911|PMID:2174830|PMID:21749890|PMID:21992998|PMID:22083004|PMID:22106346|PMID:22149423|PMID:22184092|PMID:22209138|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22400056|PMID:22412233|PMID:22449240|PMID:22494066|PMID:22531659|PMID:22551192|PMID:22580845|PMID:22592564|PMID:22620962|PMID:22620967|PMID:22745357|PMID:22747647|PMID:22877808|PMID:22928869|PMID:22995991|PMID:23080516|PMID:23126592|PMID:23193944|PMID:2320592|PMID:23240369|PMID:23278526|PMID:23279339|PMID:23317988|PMID:23346293|PMID:23387326|PMID:2349941|PMID:23523753|PMID:23580146|PMID:2360796|PMID:2363717|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23905621|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24053266|PMID:24061768|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24356794|PMID:24358189|PMID:24412190|PMID:24455802|PMID:24474780|PMID:24480837|PMID:24517438|PMID:24555660|PMID:24563469|PMID:24601850|PMID:24633258|PMID:24650283|PMID:24767411|PMID:24779883|PMID:24800914|PMID:24818650|PMID:24953234|PMID:24955979|PMID:25037766|PMID:25044787|PMID:2510740|PMID:25130926|PMID:25211232|PMID:25291558|PMID:25311081|PMID:25395306|PMID:25408161|PMID:25412400|PMID:25430583|PMID:25488473|PMID:25519307|PMID:25525159|PMID:25526974|PMID:25550818|PMID:25551524|PMID:25628512|PMID:25636337|PMID:2564060|PMID:25644864 11847793 TTR transthyretin gene DOID:9000299 cardiac amyloidosis ISO RGD:737331 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY PMID:25721874|PMID:25741868|PMID:25743335|PMID:25743445|PMID:25819286|PMID:25828388|PMID:25846356|PMID:25857202|PMID:2590199|PMID:25973863|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:2613237|PMID:26156087|PMID:26208957|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26361241|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26529114|PMID:26537620|PMID:26587769|PMID:26656838|PMID:26894299|PMID:26959691|PMID:26984605|PMID:26986100|PMID:27025994|PMID:27033334|PMID:27066555|PMID:2714785|PMID:27188913|PMID:27212199|PMID:27238058|PMID:27249223|PMID:27273296|PMID:27350016|PMID:27386769|PMID:27466465|PMID:27501389|PMID:27519456|PMID:27532257|PMID:27562180|PMID:27584576|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27724962|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27858761|PMID:27859927|PMID:27885756|PMID:28188196|PMID:28335735|PMID:28393577|PMID:2840822|PMID:28460244|PMID:28475415|PMID:28484271|PMID:28492532|PMID:28494620|PMID:2856994|PMID:2857043|PMID:28635949|PMID:28646538|PMID:28762097|PMID:2877582|PMID:28798025|PMID:28878402|PMID:28882124|PMID:28911993|PMID:2891727|PMID:2896079|PMID:28991715|PMID:29121657|PMID:29246775|PMID:29277593|PMID:29322995|PMID:29407121|PMID:29423915|PMID:29455155|PMID:29493581|PMID:29520877|PMID:29524093|PMID:29540472|PMID:29607936|PMID:29764897|PMID:29801893|PMID:2981253|PMID:29875424|PMID:29883834|PMID:30019395|PMID:30039724|PMID:30070416|PMID:30093168|PMID:3011930|PMID:30198232|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30226982|PMID:30243104|PMID:3030336|PMID:30306720|PMID:30311386|PMID:30328212|PMID:30336828|PMID:30350904|PMID:30361054|PMID:30553273|PMID:30572722|PMID:30604309|PMID:30683924|PMID:30685801|PMID:30811423|PMID:30813263|PMID:30847666|PMID:30938420|PMID:30953182|PMID:3097057|PMID:31006018|PMID:31018485|PMID:31074293|PMID:31103217|PMID:31135624|PMID:31139689|PMID:31257920|PMID:31343308|PMID:31343348|PMID:31348283|PMID:31359320|PMID:31371117|PMID:31502881|PMID:31554435|PMID:31589614|PMID:31648569|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:3178532|PMID:31821430|PMID:31919945|PMID:31932463|PMID:31980526|PMID:32000831|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32746448|PMID:32749600|PMID:32789836|PMID:32852783|PMID:32861330|PMID:32880476|PMID:32893242|PMID:32925285|PMID:33038745|PMID:33114611|PMID:33283548|PMID:33345470|PMID:33373035|PMID:3340821|PMID:33411102|PMID:33726816|PMID:33739616|PMID:33844361|PMID:34024775|PMID:34317109|PMID:34380564|PMID:34391735|PMID:34440326|PMID:3457802|PMID:34658264|PMID:3479441|PMID:35451899|PMID:35717381|PMID:35903975|PMID:35933469|PMID:3627183|PMID:3676699|PMID:3722385|PMID:3760189|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:4884226|PMID:4952599|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:6801514|PMID:7018469|PMID:7389759|PMID:7599630|PMID:7608709|PMID:7643356|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7868124|PMID:7906282|PMID:7914929|PMID:7923855|PMID:7951260|PMID:8038017|PMID:8064809|PMID:8071954|PMID:8081397|PMID:8095073|PMID:8095302|PMID:8100581|PMID:8102146|PMID:8133316|PMID:8194279|PMID:8275943|PMID:8309582|PMID:8345041|PMID:8352764|PMID:8406434|PMID:8428916|PMID:8509786|PMID:8536704|PMID:8563114|PMID:8692810|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:8990019|PMID:9017939|PMID:9090525|PMID:9196903|PMID:9215058|PMID:9268242|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9536098|PMID:9547003|PMID:9627498|PMID:9701270|PMID:9748014|PMID:9748569|PMID:9771673|PMID:9798666|PMID:9818054|PMID:9818883|PMID:9843084 11847793 TTR transthyretin gene DOID:9000965 Neoplasm Metastasis ISO RGD:737331 D RGD:9068941 20220317 RGD associated with oral squamous cell carcinoma;protein:decreased expression:blood serum, saliva (human) PMID:20957082|REF_RGD_ID:151665158 11847793 TTR transthyretin gene DOID:9000965 Neoplasm Metastasis ISO RGD:737331 D RGD:9068941 20220317 RGD associated with colorectal adenocarcinoma;protein:decreased expression:colorectum (human) PMID:33739034|REF_RGD_ID:151660505 11847793 TTR transthyretin gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:737331 D RGD:9068941 20220317 RGD associated with colorectal cancer PMID:28730771|REF_RGD_ID:151665163 11847793 TTR transthyretin gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:737331 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial amyloid polyneuropathy PMID:10036587|PMID:10071047|PMID:10211412|PMID:10439117|PMID:10439123|PMID:10449136|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10611949|PMID:10611950|PMID:10671063|PMID:10677864|PMID:10762172|PMID:10772944|PMID:10794728|PMID:10842705|PMID:10842715|PMID:10842720|PMID:10845569|PMID:10923048|PMID:10924339|PMID:11243784|PMID:11261421|PMID:11385707|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11812437|PMID:11866053|PMID:11940682|PMID:12000195|PMID:12000196|PMID:12039669|PMID:12050338|PMID:12217248|PMID:12351683|PMID:12433265|PMID:12440483|PMID:12440486|PMID:12557758|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12762139|PMID:12771253|PMID:12874413|PMID:12874414|PMID:12874858|PMID:1301926|PMID:1330202|PMID:1335038|PMID:13367520|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:13593935|PMID:13894830|PMID:14404854|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14640031|PMID:14673473|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15110620|PMID:15123043|PMID:15185492|PMID:1520326|PMID:15214015|PMID:15217993|PMID:15249622|PMID:15299640|PMID:1544214|PMID:15478468|PMID:1547960|PMID:15523922|PMID:15645642|PMID:1570831|PMID:15735344|PMID:15753613|PMID:15793844|PMID:15820680|PMID:15930086|PMID:16011990|PMID:1618497|PMID:16194874|PMID:16194875|PMID:1626556|PMID:1626570|PMID:16357452|PMID:16362527|PMID:16387053|PMID:16399646|PMID:16432141|PMID:16439621|PMID:16448460|PMID:16530227|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17062380|PMID:17143887|PMID:17251346|PMID:1729888|PMID:1729893|PMID:17338921|PMID:17431395|PMID:17431450|PMID:17453626|PMID:17484624|PMID:17503405|PMID:17551924|PMID:17554795|PMID:17576681|PMID:17577687|PMID:17577688|PMID:17698792|PMID:1786038|PMID:17968687|PMID:18022643|PMID:18042262|PMID:18069997|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19291509|PMID:1932142|PMID:19364362|PMID:19428025|PMID:19467548|PMID:19491989|PMID:19602727|PMID:19644733|PMID:19709674|PMID:19752327|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:19922332|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:20536403|PMID:20558946|PMID:2063870|PMID:20660862|PMID:20686303|PMID:20697105|PMID:20714957|PMID:20840742|PMID:20937937|PMID:20981092|PMID:2122246|PMID:21406045|PMID:21490715|PMID:21520333|PMID:21540676|PMID:21550574|PMID:21557933|PMID:21600538|PMID:2161654|PMID:21692911|PMID:2174830|PMID:21749890|PMID:21992998|PMID:22083004|PMID:22106346|PMID:22149423|PMID:22184092|PMID:22209138|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22400056|PMID:22412233|PMID:22449240|PMID:22494066|PMID:22531659|PMID:22551192|PMID:22580845|PMID:22592564|PMID:22620962|PMID:22620967|PMID:22745357|PMID:22747647|PMID:22877808|PMID:22928869|PMID:22995991|PMID:23080516|PMID:23126592|PMID:23193944|PMID:2320592|PMID:23240369|PMID:23278526|PMID:23279339|PMID:23317988|PMID:23346293|PMID:23387326|PMID:2349941|PMID:23523753|PMID:23580146|PMID:2360796|PMID:2363717|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23905621|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24053266|PMID:24061768|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24356794|PMID:24358189|PMID:24412190|PMID:24455802|PMID:24474780|PMID:24480837|PMID:24517438|PMID:24555660|PMID:24563469|PMID:24601850|PMID:24633258|PMID:24650283|PMID:24767411|PMID:24779883|PMID:24800914|PMID:24818650|PMID:24953234|PMID:24955979|PMID:25037766|PMID:25044787|PMID:2510740|PMID:25130926|PMID:25211232|PMID:25291558|PMID:25311081|PMID:25395306|PMID:25408161|PMID:25412400|PMID:25430583|PMID:25488473|PMID:25519307|PMID:25525159|PMID:25526974|PMID:25550818|PMID:25551524|PMID:25628512|PMID:25636337|PMID:2564060|PMID:25644864 11847793 TTR transthyretin gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:737331 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial amyloid polyneuropathy PMID:25721874|PMID:25741868|PMID:25743335|PMID:25743445|PMID:25819286|PMID:25828388|PMID:25846356|PMID:25857202|PMID:2590199|PMID:25973863|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:2613237|PMID:26156087|PMID:26208957|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26361241|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26529114|PMID:26537620|PMID:26587769|PMID:26656838|PMID:26894299|PMID:26959691|PMID:26984605|PMID:26986100|PMID:27025994|PMID:27033334|PMID:27066555|PMID:2714785|PMID:27188913|PMID:27212199|PMID:27238058|PMID:27249223|PMID:27273296|PMID:27350016|PMID:27386769|PMID:27466465|PMID:27501389|PMID:27519456|PMID:27532257|PMID:27562180|PMID:27584576|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27724962|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27858761|PMID:27859927|PMID:27885756|PMID:28188196|PMID:28335735|PMID:28393577|PMID:2840822|PMID:28460244|PMID:28475415|PMID:28484271|PMID:28492532|PMID:28494620|PMID:2856994|PMID:2857043|PMID:28635949|PMID:28646538|PMID:28762097|PMID:2877582|PMID:28798025|PMID:28878402|PMID:28882124|PMID:28911993|PMID:2891727|PMID:2896079|PMID:28991715|PMID:29121657|PMID:29246775|PMID:29277593|PMID:29322995|PMID:29407121|PMID:29423915|PMID:29455155|PMID:29493581|PMID:29520877|PMID:29524093|PMID:29540472|PMID:29607936|PMID:29764897|PMID:29801893|PMID:2981253|PMID:29875424|PMID:29883834|PMID:30019395|PMID:30039724|PMID:30070416|PMID:30093168|PMID:3011930|PMID:30198232|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30226982|PMID:30243104|PMID:3030336|PMID:30306720|PMID:30311386|PMID:30328212|PMID:30336828|PMID:30350904|PMID:30361054|PMID:30553273|PMID:30572722|PMID:30604309|PMID:30683924|PMID:30685801|PMID:30811423|PMID:30813263|PMID:30847666|PMID:30938420|PMID:30953182|PMID:3097057|PMID:31006018|PMID:31018485|PMID:31074293|PMID:31103217|PMID:31135624|PMID:31139689|PMID:31257920|PMID:31343308|PMID:31343348|PMID:31348283|PMID:31359320|PMID:31371117|PMID:31502881|PMID:31554435|PMID:31589614|PMID:31648569|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:3178532|PMID:31821430|PMID:31919945|PMID:31932463|PMID:31980526|PMID:32000831|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32746448|PMID:32749600|PMID:32789836|PMID:32852783|PMID:32861330|PMID:32880476|PMID:32893242|PMID:32925285|PMID:33038745|PMID:33114611|PMID:33283548|PMID:33345470|PMID:33373035|PMID:3340821|PMID:33411102|PMID:33726816|PMID:33739616|PMID:33844361|PMID:34024775|PMID:34317109|PMID:34380564|PMID:34391735|PMID:34440326|PMID:3457802|PMID:34658264|PMID:3479441|PMID:35451899|PMID:35717381|PMID:35903975|PMID:35933469|PMID:3627183|PMID:3676699|PMID:3722385|PMID:3760189|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:4884226|PMID:4952599|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:6801514|PMID:7018469|PMID:7389759|PMID:7599630|PMID:7608709|PMID:7643356|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7868124|PMID:7906282|PMID:7914929|PMID:7923855|PMID:7951260|PMID:8038017|PMID:8064809|PMID:8071954|PMID:8081397|PMID:8095073|PMID:8095302|PMID:8100581|PMID:8102146|PMID:8133316|PMID:8194279|PMID:8275943|PMID:8309582|PMID:8345041|PMID:8352764|PMID:8406434|PMID:8428916|PMID:8509786|PMID:8536704|PMID:8563114|PMID:8692810|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:8990019|PMID:9017939|PMID:9090525|PMID:9196903|PMID:9215058|PMID:9268242|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9536098|PMID:9547003|PMID:9627498|PMID:9701270|PMID:9748014|PMID:9748569|PMID:9771673|PMID:9798666|PMID:9818054|PMID:9818883|PMID:9843084 11847793 TTR transthyretin gene DOID:9001836 Cardiac Conduction Defect ISO RGD:737331 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:10439123|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29875424|PMID:31371117|PMID:35903975 11847793 TTR transthyretin gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:737331 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:10439123|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29875424|PMID:31371117|PMID:35903975 11847793 TTR transthyretin gene DOID:9003163 Heart Block ISO RGD:737331 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:10439123|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29875424|PMID:31371117|PMID:35903975 11847793 TTR transthyretin gene DOID:9004255 Cataract, Sutural, with Punctate and Cerulean Opacities ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cataract, sutural, with punctate and cerulean opacities PMID:10211412|PMID:10762172|PMID:10842715|PMID:11385707|PMID:11752419|PMID:11752443|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14640030|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:19781421|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31135624|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32674397|PMID:3627183|PMID:3934968|PMID:7868124|PMID:8698351|PMID:9017939 11847793 TTR transthyretin gene DOID:9004492 Familial Amyloidosis ISO RGD:737331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary amyloidosis PMID:28492532|PMID:32393063 11847793 TTR transthyretin gene DOID:9005172 Lung Neoplasms ISO RGD:737331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17902193|PMID:19180532 11847793 TTR transthyretin gene DOID:9005236 Drug Eruptions ISO RGD:737331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21055120 11847793 TTR transthyretin gene DOID:9005698 ZTTK Syndrome ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:10211412|PMID:10762172|PMID:10842715|PMID:11385707|PMID:11752419|PMID:11752443|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14640030|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:19781421|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31135624|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32674397|PMID:3627183|PMID:3934968|PMID:7868124|PMID:8698351|PMID:9017939 11847793 TTR transthyretin gene DOID:9006478 Amyloid Neuropathies ISO RGD:737331 D RGD:9068941 20200609 RGD PMID:15793844|REF_RGD_ID:1580527 11847793 TTR transthyretin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 11847793 TTR transthyretin gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:10211412|PMID:10762172|PMID:10842715|PMID:11385707|PMID:11752419|PMID:11752443|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14640030|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:19781421|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31135624|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32674397|PMID:3627183|PMID:3934968|PMID:7868124|PMID:8698351|PMID:9017939 11847793 TTR transthyretin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 11847793 TTR transthyretin gene DOID:9007824 Carpal Tunnel Syndrome 1 ISO RGD:737331 D RGD:7240710 20210120 OMIM 11847793 TTR transthyretin gene DOID:9007824 Carpal Tunnel Syndrome 1 ISO RGD:737331 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carpal tunnel syndrome 1 PMID:10211412|PMID:10439123|PMID:10453736|PMID:10465115|PMID:10506096|PMID:10529370|PMID:10611950|PMID:10671063|PMID:10762172|PMID:10842715|PMID:10923048|PMID:11385707|PMID:11523162|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12039669|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12566023|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1335038|PMID:1351039|PMID:1353008|PMID:1358785|PMID:14569203|PMID:14640030|PMID:14640031|PMID:14673473|PMID:1490495|PMID:14986482|PMID:15123043|PMID:15185492|PMID:15249622|PMID:15299640|PMID:1547960|PMID:15523922|PMID:15645642|PMID:1570831|PMID:15753613|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17062380|PMID:17251346|PMID:17338921|PMID:17503405|PMID:17551924|PMID:17554795|PMID:17698792|PMID:1786038|PMID:18022643|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18460047|PMID:18506713|PMID:18606975|PMID:1867256|PMID:18830126|PMID:18863976|PMID:18925456|PMID:192115|PMID:19364362|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20697105|PMID:20714957|PMID:20840742|PMID:20937937|PMID:20981092|PMID:21520333|PMID:21540676|PMID:21600538|PMID:21692911|PMID:21749890|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22382560|PMID:22412233|PMID:22531659|PMID:22551192|PMID:22592564|PMID:22620962|PMID:22620967|PMID:22745357|PMID:22877808|PMID:22928869|PMID:22995991|PMID:23080516|PMID:2320592|PMID:23240369|PMID:23387326|PMID:2349941|PMID:2363717|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24053266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24356794|PMID:24455802|PMID:24474780|PMID:24480837|PMID:24517438|PMID:24555660|PMID:24563469|PMID:24601850|PMID:24633258|PMID:24767411|PMID:24800914|PMID:24818650|PMID:25395306|PMID:25519307|PMID:25525159|PMID:25550818|PMID:25551524|PMID:25636337|PMID:2564060|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25973863|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:26208957|PMID:2624269|PMID:26243339|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26529114|PMID:26537620|PMID:26587769|PMID:26894299|PMID:27025994|PMID:27066555|PMID:2714785|PMID:27188913|PMID:27273296|PMID:27386769|PMID:27532257|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:2840822|PMID:28475415|PMID:28492532|PMID:2856994|PMID:2857043|PMID:28635949|PMID:28762097|PMID:2877582|PMID:28882124|PMID:2891727|PMID:2896079|PMID:29121657|PMID:29407121|PMID:29423915|PMID:29493581|PMID:29520877|PMID:29540472|PMID:29607936|PMID:29764897|PMID:29875424|PMID:30019395|PMID:30070416|PMID:30093168|PMID:3011930|PMID:30198232|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30243104|PMID:3030336|PMID:30306720|PMID:30328212|PMID:30336828|PMID:30350904|PMID:30361054|PMID:30572722|PMID:30683924|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31006018|PMID:31018485|PMID:31103217|PMID:31135624|PMID:31139689|PMID:31343308|PMID:31343348|PMID:31348283|PMID:31359320|PMID:31371117|PMID:31502881|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31919945|PMID:31980526|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32746448|PMID:32852783|PMID:32880476|PMID:32893242|PMID:32925285|PMID:33373035|PMID:33411102|PMID:33726816|PMID:33739616|PMID:3457802|PMID:34658264|PMID:3479441|PMID:35903975|PMID:3627183|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125 11847793 TTR transthyretin gene DOID:9007824 Carpal Tunnel Syndrome 1 ISO RGD:737331 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carpal tunnel syndrome 1 PMID:6801514|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7839813|PMID:7868124|PMID:7914929|PMID:8038017|PMID:8064809|PMID:8071954|PMID:8081397|PMID:8095073|PMID:8100581|PMID:8133316|PMID:8194279|PMID:8275943|PMID:8309582|PMID:8345041|PMID:8428916|PMID:8509786|PMID:8563114|PMID:8698351|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9268242|PMID:9475090|PMID:9748014|PMID:9771673 11847793 TTR transthyretin gene DOID:9120 amyloidosis ISO RGD:737331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25595224 11847793 TTR transthyretin gene DOID:9120 amyloidosis ISO RGD:737331 D RGD:9068941 20200609 RGD PMID:15536615|REF_RGD_ID:1580528 11847793 TTR transthyretin gene DOID:9256 colorectal cancer ISO RGD:737331 D RGD:9068941 20220310 RGD protein:decreased expression:blood serum (human) PMID:21136704|REF_RGD_ID:151664608 11847801 CXHXorf66 chromosome X CXorf66 homolog gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11847801 CXHXorf66 chromosome X CXorf66 homolog gene DOID:12259 hemophilia B ISO RGD:1606098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary factor IX deficiency disease PMID:2198809|PMID:24375831|PMID:28492532|PMID:3029178|PMID:4045960|PMID:8304338 11847801 CXHXorf66 chromosome X CXorf66 homolog gene DOID:12849 autistic disorder ISO RGD:1606098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11847801 CXHXorf66 chromosome X CXorf66 homolog gene DOID:630 genetic disease ISO RGD:1606098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847809 C11H11orf24 chromosome 11 C11orf24 homolog gene DOID:1059 intellectual disability ISO RGD:1323665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11847809 C11H11orf24 chromosome 11 C11orf24 homolog gene DOID:630 genetic disease ISO RGD:1323665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847809 C11H11orf24 chromosome 11 C11orf24 homolog gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1323665 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11847809 C11H11orf24 chromosome 11 C11orf24 homolog gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1323665 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11847823 CYP4F11 cytochrome P450 family 4 subfamily F member 11 gene DOID:630 genetic disease ISO RGD:1349925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847865 LOC103785252 sialic acid-binding Ig-like lectin 7 gene DOID:630 genetic disease ISO RGD:1349915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847896 ZNF746 zinc finger protein 746 gene DOID:630 genetic disease ISO RGD:1606138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847920 DNMT1 DNA methyltransferase 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21532572 11847920 DNMT1 DNA methyltransferase 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1354178 D RGD:9068941 20200609 RGD DNA:missensemutations:cds: PMID:21532572|REF_RGD_ID:9588627 11847920 DNMT1 DNA methyltransferase 1 gene DOID:0050700 cardiomyopathy ISO RGD:1552151 D RGD:9068941 20210521 RGD protein:increased expression:heart (mouse) PMID:32051532|REF_RGD_ID:126925233 11847920 DNMT1 DNA methyltransferase 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1354178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 11847920 DNMT1 DNA methyltransferase 1 gene DOID:0050902 medulloblastoma ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19155313 11847920 DNMT1 DNA methyltransferase 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1354178 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:32431489 11847920 DNMT1 DNA methyltransferase 1 gene DOID:0050952 spastic ataxia ISO RGD:1354178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 11847920 DNMT1 DNA methyltransferase 1 gene DOID:0050968 autosomal dominant cerebellar ataxia, deafness and narcolepsy ISO RGD:1354178 D RGD:7240710 20180130 OMIM 11847920 DNMT1 DNA methyltransferase 1 gene DOID:0050968 autosomal dominant cerebellar ataxia, deafness and narcolepsy ISO RGD:1354178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy PMID:10210919|PMID:17576681|PMID:21532572|PMID:22328086|PMID:23365052|PMID:25326637|PMID:25678562|PMID:25741868|PMID:28334952|PMID:28492532|PMID:30165906|PMID:31984424|PMID:7898717|PMID:8747854|PMID:9536098 11847920 DNMT1 DNA methyltransferase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1354178 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11847920 DNMT1 DNA methyltransferase 1 gene DOID:0070158 hereditary sensory neuropathy type 1E ISO RGD:1354178 D RGD:7240710 20180130 OMIM 11847920 DNMT1 DNA methyltransferase 1 gene DOID:0070158 hereditary sensory neuropathy type 1E ISO RGD:1354178 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Dementia, Deafness, and Sensory Neuropathy | ClinVar Annotator: match by term: HSN IE | ClinVar Annotator: match by term: Hereditary sensory neuropathy type IE | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIA PMID:10210919|PMID:16199547|PMID:17576681|PMID:21532572|PMID:23365052|PMID:23521649|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28492532|PMID:30165906|PMID:7898717|PMID:9536098 11847920 DNMT1 DNA methyltransferase 1 gene DOID:0070158 hereditary sensory neuropathy type 1E ISO RGD:1354178 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dementia, Deafness, and Sensory Neuropathy | ClinVar Annotator: match by term: HSN IE | ClinVar Annotator: match by term: Hereditary sensory neuropathy type IE | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIA PMID:10210919|PMID:16199547|PMID:17576681|PMID:21532572|PMID:22328086|PMID:23365052|PMID:23521649|PMID:24727570|PMID:25326637|PMID:25678562|PMID:25741868|PMID:26467025|PMID:27884168|PMID:28334952|PMID:28492532|PMID:30165906|PMID:30342480|PMID:31049076|PMID:31984424|PMID:7898717|PMID:9536098 11847920 DNMT1 DNA methyltransferase 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1354178 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:24038143|REF_RGD_ID:9588628 11847920 DNMT1 DNA methyltransferase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1354178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10210919|PMID:21532572|PMID:23365052|PMID:23521649|PMID:24727570|PMID:25326637|PMID:25678562|PMID:25741868|PMID:28334952|PMID:28492532|PMID:7898717 11847920 DNMT1 DNA methyltransferase 1 gene DOID:11054 urinary bladder cancer ISO RGD:1354178 D RGD:9068941 20200609 RGD protein:increased expression PMID:14634451|REF_RGD_ID:2301220 11847920 DNMT1 DNA methyltransferase 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1354178 D RGD:9068941 20210521 RGD protein:increased expression:cardiac muscle tissue of interventricular septum (human) PMID:32051532|REF_RGD_ID:126925233 11847920 DNMT1 DNA methyltransferase 1 gene DOID:12361 Graves' disease treatment ISO RGD:1354178 D RGD:9068941 20200609 RGD DNA:polymorphism: :32204 G>A(human) PMID:23039890|REF_RGD_ID:9588624 11847920 DNMT1 DNA methyltransferase 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1354178 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia PMID:27884168|PMID:28492532 11847920 DNMT1 DNA methyltransferase 1 gene DOID:1307 dementia ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21532572 11847920 DNMT1 DNA methyltransferase 1 gene DOID:1324 lung cancer disease_progression ISO RGD:1354178 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:24548441|REF_RGD_ID:9588658 11847920 DNMT1 DNA methyltransferase 1 gene DOID:1324 lung cancer disease_progression ISO RGD:1354178 D RGD:9068941 20211210 RGD protein:increased expression:lung (human) PMID:21496867|REF_RGD_ID:150530293 11847920 DNMT1 DNA methyltransferase 1 gene DOID:1682 congenital heart disease ISO RGD:620979 D RGD:9068941 20200609 RGD associated with Vitamin A Deficiency; mRNA:increased expression:heart: PMID:23333085|REF_RGD_ID:9588314 11847920 DNMT1 DNA methyltransferase 1 gene DOID:2030 anxiety disorder ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23791455 11847920 DNMT1 DNA methyltransferase 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:1552151 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:prostate gland: PMID:17178860|REF_RGD_ID:2289681 11847920 DNMT1 DNA methyltransferase 1 gene DOID:2841 asthma ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23423710 11847920 DNMT1 DNA methyltransferase 1 gene DOID:2841 asthma ISO RGD:1552151 D RGD:9068941 20200609 RGD DNA,mRNA:hypermethylation,decreased expression:promoter,respiratory tract: PMID:23196709|REF_RGD_ID:9588646 11847920 DNMT1 DNA methyltransferase 1 gene DOID:288 endometriosis of uterus ISO RGD:1354178 D RGD:9068941 20200609 RGD protein:increased expression:ectopic endometrium: PMID:22572543|REF_RGD_ID:9588664 11847920 DNMT1 DNA methyltransferase 1 gene DOID:289 endometriosis ISO RGD:1354178 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:endometrium: PMID:21316665|REF_RGD_ID:9588653 11847920 DNMT1 DNA methyltransferase 1 gene DOID:299 adenocarcinoma ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17571247 11847920 DNMT1 DNA methyltransferase 1 gene DOID:305 carcinoma ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21458988 11847920 DNMT1 DNA methyltransferase 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:1552151 D RGD:9068941 20200609 RGD PMID:11726790|REF_RGD_ID:9588643 11847920 DNMT1 DNA methyltransferase 1 gene DOID:3565 meningioma ISO RGD:1354178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meningioma 11847920 DNMT1 DNA methyltransferase 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29844410 11847920 DNMT1 DNA methyltransferase 1 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1354178 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19424621|REF_RGD_ID:9588974 11847920 DNMT1 DNA methyltransferase 1 gene DOID:3905 lung carcinoma disease_progression ISO RGD:620979 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:21163286|REF_RGD_ID:9588222 11847920 DNMT1 DNA methyltransferase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1354178 D RGD:9068941 20210430 RGD PMID:32211850|REF_RGD_ID:126848780 11847920 DNMT1 DNA methyltransferase 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1354178 D RGD:9068941 20210430 RGD PMID:32211850|REF_RGD_ID:126848780 11847920 DNMT1 DNA methyltransferase 1 gene DOID:417 autoimmune disease ISO RGD:1552151 D RGD:9068941 20200609 RGD PMID:23444399|REF_RGD_ID:9588650 11847920 DNMT1 DNA methyltransferase 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27292127 11847920 DNMT1 DNA methyltransferase 1 gene DOID:4531 mucoepidermoid carcinoma disease_progression ISO RGD:1354178 D RGD:9068941 20200609 RGD PMID:15999364|REF_RGD_ID:9588574 11847920 DNMT1 DNA methyltransferase 1 gene DOID:4926 bronchiolo-alveolar adenocarcinoma disease_progression ISO RGD:1354178 D RGD:9068941 20200609 RGD PMID:19484794|REF_RGD_ID:4140940 11847920 DNMT1 DNA methyltransferase 1 gene DOID:5082 liver cirrhosis ISO RGD:620979 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:24211420|REF_RGD_ID:9588224 11847920 DNMT1 DNA methyltransferase 1 gene DOID:535 sleep disorder ISO RGD:1354178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sleep disturbance PMID:25741868 11847920 DNMT1 DNA methyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:1354178 D RGD:9068941 20200609 RGD mRNA:increased expression:GABAergic interneuron PMID:17264840|REF_RGD_ID:9588642 11847920 DNMT1 DNA methyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:1552151 D RGD:9068941 20200609 RGD PMID:22564440|REF_RGD_ID:9588973 11847920 DNMT1 DNA methyltransferase 1 gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1354178 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: EMG Syndrome PMID:25741868|PMID:28492532|PMID:30165906 11847920 DNMT1 DNA methyltransferase 1 gene DOID:6000 congestive heart failure ISO RGD:620979 D RGD:9068941 20200609 RGD protein:increased expression:atrium: PMID:23573917|REF_RGD_ID:9588286 11847920 DNMT1 DNA methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1354178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:21532572|PMID:24727570|PMID:25678562|PMID:25741868|PMID:28492532|PMID:30165906|PMID:31049076|PMID:36394275|PMID:9536098 11847920 DNMT1 DNA methyltransferase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:620979 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:11844796|REF_RGD_ID:2289670 11847920 DNMT1 DNA methyltransferase 1 gene DOID:7148 rheumatoid arthritis severity ISO RGD:1354178 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell PMID:20937307|REF_RGD_ID:9588623 11847920 DNMT1 DNA methyltransferase 1 gene DOID:8552 chronic myeloid leukemia disease_progression ISO RGD:1354178 D RGD:9068941 20200609 RGD PMID:11222358|REF_RGD_ID:9588667 11847920 DNMT1 DNA methyltransferase 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581815 11847920 DNMT1 DNA methyltransferase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17571247|PMID:21458988 11847920 DNMT1 DNA methyltransferase 1 gene DOID:9000998 Brain Injuries ISO RGD:620979 D RGD:9068941 20200609 RGD PMID:19429151|REF_RGD_ID:9588608 11847920 DNMT1 DNA methyltransferase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:620979 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:hippocampus: PMID:16380407|REF_RGD_ID:9588242 11847920 DNMT1 DNA methyltransferase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:620979 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney: PMID:12869365|REF_RGD_ID:9588619 11847920 DNMT1 DNA methyltransferase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:620979 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland: PMID:24717552|REF_RGD_ID:9590296 11847920 DNMT1 DNA methyltransferase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581815 11847920 DNMT1 DNA methyltransferase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1552151 D RGD:9068941 20200609 RGD PMID:20584988|REF_RGD_ID:9588671 11847920 DNMT1 DNA methyltransferase 1 gene DOID:9002304 Prostatic Neoplasms treatment ISO RGD:1552151 D RGD:9068941 20200609 RGD PMID:24038143|REF_RGD_ID:9588628 11847920 DNMT1 DNA methyltransferase 1 gene DOID:9002457 Experimental Arthritis ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25194984 11847920 DNMT1 DNA methyltransferase 1 gene DOID:9002488 Peritoneal Fibrosis ISO RGD:620979 D RGD:9068941 20200609 RGD protein:increased expression:peritoneum: PMID:25256793|REF_RGD_ID:9588609 11847920 DNMT1 DNA methyltransferase 1 gene DOID:9002598 Spastic Paraparesis ISO RGD:1354178 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spastic paraparesis PMID:25741868 11847920 DNMT1 DNA methyltransferase 1 gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:1354178 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2228611,rs759920 (human) PMID:23666104|REF_RGD_ID:9588645 11847920 DNMT1 DNA methyltransferase 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19723570 11847920 DNMT1 DNA methyltransferase 1 gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:620979 D RGD:9068941 20200609 RGD PMID:19723570|REF_RGD_ID:9588972 11847920 DNMT1 DNA methyltransferase 1 gene DOID:9003036 Oral Lichen Planus ISO RGD:1354178 D RGD:9068941 20200609 RGD protein:increased expression:mouth mucosa: PMID:22236544|REF_RGD_ID:9589075 11847920 DNMT1 DNA methyltransferase 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1354178 D RGD:9068941 20200609 RGD protein:increased expression PMID:17196739|REF_RGD_ID:2301221 11847920 DNMT1 DNA methyltransferase 1 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1354178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 11847920 DNMT1 DNA methyltransferase 1 gene DOID:9004078 Pancreatic Intraepithelial Neoplasia ISO RGD:1354178 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19424621|REF_RGD_ID:9588974 11847920 DNMT1 DNA methyltransferase 1 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1354178 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:uterus: PMID:15721400|REF_RGD_ID:9588596 11847920 DNMT1 DNA methyltransferase 1 gene DOID:9004538 Hearing Loss ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21532572 11847920 DNMT1 DNA methyltransferase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28544374 11847920 DNMT1 DNA methyltransferase 1 gene DOID:9004866 Ataxia ISO RGD:1354178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia PMID:25741868|PMID:28492532 11847920 DNMT1 DNA methyltransferase 1 gene DOID:9006302 Binge Drinking ISO RGD:1552151 D RGD:9068941 20200609 RGD protein:increased expression:nucleus accumbens: PMID:23423140|REF_RGD_ID:9588287 11847920 DNMT1 DNA methyltransferase 1 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:1552151 D RGD:9068941 20200609 RGD PMID:22905112|REF_RGD_ID:9588654 11847920 DNMT1 DNA methyltransferase 1 gene DOID:9007702 Carcinogenesis disease_progression ISO RGD:620979 D RGD:9068941 20200609 RGD PMID:21163286|REF_RGD_ID:9588222 11847920 DNMT1 DNA methyltransferase 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1354178 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:uterus: PMID:15721400|REF_RGD_ID:9588596 11847920 DNMT1 DNA methyltransferase 1 gene DOID:9008443 Colorectal Neoplasms treatment ISO RGD:620979 D RGD:9068941 20200609 RGD PMID:23717604|REF_RGD_ID:9588299 11847920 DNMT1 DNA methyltransferase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22520950|PMID:28544374 11847920 DNMT1 DNA methyltransferase 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1354178 D RGD:9068941 20200609 RGD mRNA:decreased expression:T cell: PMID:21595664|REF_RGD_ID:9588656 11847920 DNMT1 DNA methyltransferase 1 gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:1354178 D RGD:9068941 20200609 RGD PMID:18194272|REF_RGD_ID:9588670 11847920 DNMT1 DNA methyltransferase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1354178 D RGD:9068941 20200609 RGD mRNA:increased expression:CD34+ bone marrow cells PMID:11222358|REF_RGD_ID:9588667 11847920 DNMT1 DNA methyltransferase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:620979 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:21818837|REF_RGD_ID:7207079 11847920 DNMT1 DNA methyltransferase 1 gene DOID:986 alopecia areata ISO RGD:1354178 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell: PMID:21936853|REF_RGD_ID:9587460 11847920 Dnmt1 DNA methyltransferase 1 gene DOID:8456 choline deficiency disease ISO RGD:620979 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:17724018|REF_RGD_ID:9588267 11847968 NIPAL1 NIPA like domain containing 1 gene DOID:630 genetic disease ISO RGD:1602833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11847978 HOOK1 hook microtubule tethering protein 1 gene DOID:1059 intellectual disability ISO RGD:1320626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11847978 HOOK1 hook microtubule tethering protein 1 gene DOID:630 genetic disease ISO RGD:1320626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848009 GLI3 GLI family zinc finger 3 gene DOID:0060071 pre-malignant neoplasm ISO RGD:620272 D RGD:9068941 20211105 RGD PMID:30537251|REF_RGD_ID:150520178 11848009 GLI3 GLI family zinc finger 3 gene DOID:0070067 White-Sutton syndrome ISO RGD:1314553 D RGD:8554872 20220628 ClinVar ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome PMID:25741868 11848009 GLI3 GLI family zinc finger 3 gene DOID:0080074 neural tube defect ISO RGD:1314553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16359493 11848009 GLI3 GLI family zinc finger 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1314553 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:19829694|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9302279 11848009 GLI3 GLI family zinc finger 3 gene DOID:10892 hypospadias ISO RGD:620272 D RGD:9068941 20200609 RGD mRNA:decreased expression:male genital tubercle PMID:27079746|REF_RGD_ID:12743602 11848009 GLI3 GLI family zinc finger 3 gene DOID:11193 syndactyly ISO RGD:1314553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: polysyndactyly 11848009 GLI3 GLI family zinc finger 3 gene DOID:1148 polydactyly ISO RGD:1314553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperdactyly | ClinVar Annotator: match by term: Polydactylism | ClinVar Annotator: match by term: Polydactyly PMID:10441570|PMID:25741868|PMID:28492532 11848009 GLI3 GLI family zinc finger 3 gene DOID:11836 clubfoot ISO RGD:620272 D RGD:9068941 20200609 RGD PMID:19925654|REF_RGD_ID:12738235 11848009 GLI3 GLI family zinc finger 3 gene DOID:13714 anodontia ISO RGD:1314553 D RGD:9068941 20200609 RGD DNA:SNP: :rs929387 (human) PMID:22984994|REF_RGD_ID:12738234 11848009 GLI3 GLI family zinc finger 3 gene DOID:14679 VACTERL association ISO RGD:1314554 D RGD:9068941 20230105 RGD PMID:11172440|REF_RGD_ID:155791680 11848009 GLI3 GLI family zinc finger 3 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1314553 D RGD:7240710 20180130 OMIM 11848009 GLI3 GLI family zinc finger 3 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1314553 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome | ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome, severe | ClinVar Annotator: match by term: Polysyndactyly with peculiar skull shape PMID:10441342|PMID:10441570|PMID:10678662|PMID:12414818|PMID:12794692|PMID:15739154|PMID:15811011|PMID:16199547|PMID:16740916|PMID:17576681|PMID:18000979|PMID:18435847|PMID:1879832|PMID:19829694|PMID:20583172|PMID:20672375|PMID:22903559|PMID:24736735|PMID:25606469|PMID:25640679|PMID:25741868|PMID:26508445|PMID:27231705|PMID:28166811|PMID:28224613|PMID:28492532|PMID:29236091|PMID:30235038|PMID:30773290|PMID:32591344|PMID:33304378|PMID:34906502|PMID:6641002|PMID:9302279|PMID:9536098 11848009 GLI3 GLI family zinc finger 3 gene DOID:1923 disorder of sexual development ISO RGD:1314553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 11848009 GLI3 GLI family zinc finger 3 gene DOID:3263 piebaldism ISO RGD:1314554 D RGD:9068941 20200609 RGD PMID:18397875|REF_RGD_ID:12738207 11848009 GLI3 GLI family zinc finger 3 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1314553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia 11848009 GLI3 GLI family zinc finger 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11848009 GLI3 GLI family zinc finger 3 gene DOID:5082 liver cirrhosis ISO RGD:1314553 D RGD:9068941 20230105 RGD mRNA:increased expression:serum: PMID:32319630|REF_RGD_ID:155791681 11848009 GLI3 GLI family zinc finger 3 gene DOID:6225 Cronkhite-Canada syndrome ISO RGD:1314553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cronkhite-Canada syndrome 11848009 GLI3 GLI family zinc finger 3 gene DOID:630 genetic disease ISO RGD:1314553 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15739154|PMID:25741868|PMID:28492532 11848009 GLI3 GLI family zinc finger 3 gene DOID:674 cleft palate ISO RGD:1314554 D RGD:9068941 20200609 RGD PMID:18816854|REF_RGD_ID:12738224 11848009 GLI3 GLI family zinc finger 3 gene DOID:687 hepatoblastoma ISO RGD:1314553 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:28492532 11848009 GLI3 GLI family zinc finger 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1314553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24816253 11848009 GLI3 GLI family zinc finger 3 gene DOID:9001471 Anorectal Malformations ISO RGD:620272 D RGD:9068941 20200609 RGD mRNA:decreased expression:rectum PMID:27079746|REF_RGD_ID:12743602 11848009 GLI3 GLI family zinc finger 3 gene DOID:9001471 Anorectal Malformations ISO RGD:620272 D RGD:9068941 20230107 RGD mRNA:decreased expression:terminal rectum PMID:25213187|REF_RGD_ID:155791683 11848009 GLI3 GLI family zinc finger 3 gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1314553 D RGD:7240710 20180130 OMIM 11848009 GLI3 GLI family zinc finger 3 gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1314553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GLI3-related postaxial polydactyly | ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 | ClinVar Annotator: match by term: Postaxial polydactyly type B | ClinVar Annotator: match by term: Postaxial polydactyly, type A1/B PMID:10441342|PMID:10441570|PMID:12794692|PMID:15739154|PMID:16199547|PMID:18000979|PMID:22428873|PMID:22903559|PMID:24736735|PMID:25741868|PMID:26508445|PMID:28315472|PMID:28492532|PMID:9354785 11848009 GLI3 GLI family zinc finger 3 gene DOID:9005219 Abnormal Reflexes ISO RGD:1314553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperreflexia PMID:28492532 11848009 GLI3 GLI family zinc finger 3 gene DOID:9005660 Hypopigmentation ISO RGD:1314553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18397875 11848009 GLI3 GLI family zinc finger 3 gene DOID:9007878 Crossed Polydactyly, Type I ISO RGD:1314553 D RGD:9068941 20200609 RGD DNA:nonsense mutation:exon:p.R643X (1927 C>T) (human) PMID:16874813|REF_RGD_ID:12738209 11848009 GLI3 GLI family zinc finger 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1314553 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11848009 GLI3 GLI family zinc finger 3 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1314553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:21326280|PMID:22903559|PMID:24736735|PMID:25741868 11848009 GLI3 GLI family zinc finger 3 gene DOID:9008310 Preaxial Polydactyly IV ISO RGD:1314553 D RGD:7240710 20180130 OMIM 11848009 GLI3 GLI family zinc finger 3 gene DOID:9008310 Preaxial Polydactyly IV ISO RGD:1314553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Preaxial polydactyly 4 PMID:10441570|PMID:15739154|PMID:15811011|PMID:18000979|PMID:18435847|PMID:24736735|PMID:25741868|PMID:28492532|PMID:34906502|PMID:6641002 11848009 GLI3 GLI family zinc finger 3 gene DOID:9248 Pallister-Hall syndrome ISO RGD:1314553 D RGD:7240710 20180130 OMIM 11848009 GLI3 GLI family zinc finger 3 gene DOID:9248 Pallister-Hall syndrome ISO RGD:1314553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly | ClinVar Annotator: match by term: Pallister-Hall syndrome PMID:10441570|PMID:10945658|PMID:12545275|PMID:15739154|PMID:15811011|PMID:18000979|PMID:18435847|PMID:24736735|PMID:25741868|PMID:28492532|PMID:34906502|PMID:6641002|PMID:9054938|PMID:9148633 11848009 GLI3 GLI family zinc finger 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11848028 KCNH4 potassium voltage-gated channel subfamily H member 4 gene DOID:630 genetic disease ISO RGD:733889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848053 RHPN2 rhophilin Rho GTPase binding protein 2 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1318093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11848053 RHPN2 rhophilin Rho GTPase binding protein 2 gene DOID:630 genetic disease ISO RGD:1318093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848053 RHPN2 rhophilin Rho GTPase binding protein 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318093 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19011631 11848053 RHPN2 rhophilin Rho GTPase binding protein 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1318093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:28492532 11848070 RANBP1 RAN binding protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1321469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11848070 RANBP1 RAN binding protein 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1321469 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 11848070 RANBP1 RAN binding protein 1 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1321469 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 11848070 RANBP1 RAN binding protein 1 gene DOID:1059 intellectual disability ISO RGD:1321469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11848070 RANBP1 RAN binding protein 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1321469 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 11848070 RANBP1 RAN binding protein 1 gene DOID:11372 megacolon ISO RGD:1321469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11848070 RANBP1 RAN binding protein 1 gene DOID:11446 sciatic neuropathy ISO RGD:1310521 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve (rat) PMID:18667152|REF_RGD_ID:9835000 11848070 RANBP1 RAN binding protein 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:1321469 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 11848070 RANBP1 RAN binding protein 1 gene DOID:12849 autistic disorder ISO RGD:1321469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11848070 RANBP1 RAN binding protein 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1321469 D RGD:9068941 20200609 RGD protein:decreased expression:heart ventricle, cytoplasm (human) PMID:25341891|REF_RGD_ID:9835001 11848070 RANBP1 RAN binding protein 1 gene DOID:1826 epilepsy ISO RGD:1321469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11848070 RANBP1 RAN binding protein 1 gene DOID:2213 hemorrhagic disease ISO RGD:1321469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 11848070 RANBP1 RAN binding protein 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1321469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11848070 RANBP1 RAN binding protein 1 gene DOID:5419 schizophrenia ISO RGD:1321469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11848070 RANBP1 RAN binding protein 1 gene DOID:5844 myocardial infarction ISO RGD:1310521 D RGD:9068941 20200609 RGD protein:decreased expression:heart ventricle, cytoplasm (rat) PMID:25341891|REF_RGD_ID:9835001 11848070 RANBP1 RAN binding protein 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1321469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11848070 RANBP1 RAN binding protein 1 gene DOID:630 genetic disease ISO RGD:1321469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848070 RANBP1 RAN binding protein 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:1321469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 11848070 RANBP1 RAN binding protein 1 gene DOID:9003871 Venous Thrombosis ISO RGD:1321469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 11848070 RANBP1 RAN binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11848070 RANBP1 RAN binding protein 1 gene DOID:9007661 Dwarfism ISO RGD:1321469 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11848085 CRMP1 collapsin response mediator protein 1 gene DOID:630 genetic disease ISO RGD:731741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848085 CRMP1 collapsin response mediator protein 1 gene DOID:6678 tooth and nail syndrome ISO RGD:731741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:14630905|PMID:28492532|PMID:9742121 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0050635 alternating hemiplegia of childhood ISO RGD:736008 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Alternating hemiplegia of childhood PMID:25741868|PMID:28492532 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0050952 spastic ataxia ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0060178 familial hemiplegic migraine ISO RGD:736008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:11439943|PMID:12023326|PMID:12539047|PMID:14667076|PMID:15159495|PMID:15174025|PMID:15286158|PMID:15459825|PMID:16088919|PMID:16110494|PMID:16199547|PMID:16344534|PMID:16437583|PMID:16538223|PMID:17142831|PMID:17435187|PMID:17473835|PMID:17576681|PMID:17877748|PMID:17952365|PMID:18056581|PMID:18414213|PMID:18498390|PMID:18644608|PMID:18728015|PMID:18957371|PMID:19372756|PMID:19458722|PMID:19874388|PMID:20301562|PMID:20720542|PMID:20837964|PMID:21352219|PMID:21398422|PMID:21533730|PMID:22117059|PMID:23821026|PMID:23838748|PMID:23954377|PMID:24396618|PMID:24498617|PMID:24704353|PMID:24921013|PMID:25741868|PMID:26467025|PMID:27066515|PMID:27226003|PMID:27790126|PMID:27864847|PMID:28492532|PMID:28717674|PMID:28811059|PMID:29062094|PMID:29343472|PMID:29778030|PMID:29867740|PMID:29956301|PMID:30185235|PMID:30690204|PMID:31737037|PMID:33794876|PMID:34384358|PMID:9536098 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0060484 EAST syndrome ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EAST syndrome PMID:28492532 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) PMID:28492532 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0080918 polymicrogyria ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:25741868|PMID:31608932 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0110346 osteogenesis imperfecta type 10 ISO RGD:736008 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 10 PMID:25741868 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0111182 familial hemiplegic migraine 2 ISO RGD:736008 D RGD:7240710 20180130 OMIM 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0111182 familial hemiplegic migraine 2 ISO RGD:736008 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Migraine, familial hemiplegic, 2 PMID:12539047|PMID:12953268|PMID:15133718|PMID:15159495|PMID:15174025|PMID:15308625|PMID:15459825|PMID:16037212|PMID:16088919|PMID:17435187|PMID:17473835|PMID:17576681|PMID:17877748|PMID:17952365|PMID:18056581|PMID:18414213|PMID:18728015|PMID:18957371|PMID:19372756|PMID:20301562|PMID:20720542|PMID:21172953|PMID:21398422|PMID:21533730|PMID:22117059|PMID:23821026|PMID:24704353|PMID:25138102|PMID:25326635|PMID:25741868|PMID:26467025|PMID:27790126|PMID:27818813|PMID:28492532|PMID:29413639|PMID:29904856|PMID:33880529|PMID:34384358|PMID:9536098|PMID:9579893 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:10024 migraine with aura ISO RGD:736008 D RGD:9068941 20200609 RGD PMID:12953268|REF_RGD_ID:1358436 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:10763 hypertension ISO RGD:10206 D RGD:9068941 20200609 RGD PMID:16243970|REF_RGD_ID:1601251 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:10763 hypertension ISO RGD:2168 D RGD:9068941 20200609 RGD protein:decreased expression:adrenal gland cortex zone PMID:11768735|REF_RGD_ID:1601253 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:10763 hypertension ISO RGD:736008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16166162|PMID:16243970 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:10763 hypertension susceptibility ISO RGD:736008 D RGD:9068941 20200609 RGD PMID:11257061|REF_RGD_ID:1601254 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:10969 hemiplegia ISO RGD:736008 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hemiplegia PMID:25741868|PMID:28492532 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:14264 benign neonatal seizures ISO RGD:736008 D RGD:9068941 20200609 RGD PMID:12953268|REF_RGD_ID:1358436 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:1540 parathyroid carcinoma ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:1826 epilepsy ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:18644608|PMID:24921013|PMID:25741868|PMID:28492532|PMID:30690204 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:630 genetic disease ISO RGD:736008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15174025|PMID:16088919|PMID:16538223|PMID:17473835|PMID:17576681|PMID:17877748|PMID:17952365|PMID:18056581|PMID:18414213|PMID:18728015|PMID:18957371|PMID:19458722|PMID:21172953|PMID:22117059|PMID:23954377|PMID:24396618|PMID:24921013|PMID:25741868|PMID:26467025|PMID:27226003|PMID:27818813|PMID:28492532|PMID:29062094|PMID:29413639|PMID:29778030|PMID:29867740|PMID:29904856|PMID:29956301|PMID:34384358|PMID:9536098 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:2168 D RGD:9068941 20200609 RGD PMID:18424620|REF_RGD_ID:6903342 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9001342 Developmental and Epileptic Encephalopathy 98 ISO RGD:736008 D RGD:7240710 20211201 OMIM 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9001342 Developmental and Epileptic Encephalopathy 98 ISO RGD:736008 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 98 PMID:15159495|PMID:15174025|PMID:17877748|PMID:18028456|PMID:18056581|PMID:18414213|PMID:25326635|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33880529 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:736008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:16538223|PMID:17473835|PMID:22117059|PMID:25741868|PMID:28492532|PMID:34384358 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9001804 FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES ISO RGD:736008 D RGD:7240710 20220209 OMIM 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9001804 FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES ISO RGD:736008 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies PMID:15174025|PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30690204|PMID:31608932 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9002079 Paresis ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemiparesis PMID:30311386 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9003936 Cardiomegaly ISO RGD:2168 D RGD:9068941 20200609 RGD PMID:15644428|REF_RGD_ID:6903354 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9005462 Familial Basilar Migraine ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Migraine, familial basilar PMID:16344534|PMID:18498390|PMID:23954377|PMID:28492532 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9007692 Insulin Resistance ISO RGD:736008 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:14576983|REF_RGD_ID:1601252 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9009197 Alternating Hemiplegia of Childhood 1 ISO RGD:736008 D RGD:7240710 20190320 OMIM 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9009197 Alternating Hemiplegia of Childhood 1 ISO RGD:736008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alternating hemiplegia of childhood 1 PMID:11439943|PMID:12023326|PMID:14667076|PMID:15174025|PMID:15286158|PMID:16437583|PMID:17473835|PMID:17576681|PMID:17877748|PMID:18056581|PMID:18414213|PMID:18957371|PMID:19874388|PMID:20837964|PMID:21533730|PMID:24921013|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28717674|PMID:30423015|PMID:31737037|PMID:34384358|PMID:9536098 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9279 hyperhomocysteinemia ISO RGD:2168 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex PMID:23467881|REF_RGD_ID:11576285 11848130 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9970 obesity susceptibility ISO RGD:10206 D RGD:9068941 20200609 RGD PMID:16286513|REF_RGD_ID:1601250 11848157 MSTN myostatin gene DOID:0111072 myostatin-related muscle hypertrophy ISO RGD:736334 D RGD:7240710 20180822 OMIM 11848157 MSTN myostatin gene DOID:0111072 myostatin-related muscle hypertrophy ISO RGD:736334 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Myostatin-related muscle hypertrophy PMID:10610713|PMID:11555072|PMID:15215484|PMID:19232494|PMID:20301671|PMID:21283721|PMID:24479661|PMID:28492532 11848157 MSTN myostatin gene DOID:0111944 immunodeficiency 31B ISO RGD:736334 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 11848157 MSTN myostatin gene DOID:1459 hypothyroidism ISO RGD:3115 D RGD:9068941 20200609 RGD PMID:18997488|REF_RGD_ID:2303545 11848157 MSTN myostatin gene DOID:332 amyotrophic lateral sclerosis ISO RGD:3115 D RGD:9068941 20200609 RGD PMID:16837207|REF_RGD_ID:2303556 11848157 MSTN myostatin gene DOID:341 peripheral vascular disease ISO RGD:3115 D RGD:9068941 20200609 RGD PMID:19125275|REF_RGD_ID:2303544 11848157 MSTN myostatin gene DOID:4676 uremia ISO RGD:3115 D RGD:9068941 20211126 RGD associated with Kidney Failure, Chronic PMID:16871256|REF_RGD_ID:2303558 11848157 MSTN myostatin gene DOID:6000 congestive heart failure ISO RGD:3115 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium PMID:16968467|REF_RGD_ID:2303554 11848157 MSTN myostatin gene DOID:6000 congestive heart failure ISO RGD:736334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16968467 11848157 MSTN myostatin gene DOID:630 genetic disease ISO RGD:736334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848157 MSTN myostatin gene DOID:767 muscular atrophy ISO RGD:3115 D RGD:9068941 20200609 RGD associated with Addison's Disease PMID:15738643|REF_RGD_ID:2303596 11848157 MSTN myostatin gene DOID:767 muscular atrophy ISO RGD:3115 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:skeletal muscle PMID:15758361|REF_RGD_ID:2303594 11848157 MSTN myostatin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11848157 MSTN myostatin gene DOID:9007346 Cachexia ISO RGD:3115 D RGD:9068941 20200609 RGD associated with Carcinoma, Hepatocellular;mRNA:increased expression:skeletal muscle PMID:18578694|REF_RGD_ID:2303552 11848157 MSTN myostatin gene DOID:9007730 Burns ISO RGD:3115 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:11481237|REF_RGD_ID:2303598 11848164 NUMB NUMB endocytic adaptor protein gene DOID:1059 intellectual disability ISO RGD:1348962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11848164 NUMB NUMB endocytic adaptor protein gene DOID:630 genetic disease ISO RGD:1348962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:0050746 mantle cell lymphoma ISO RGD:1317580 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E228A (c.683A>C) (human) PMID:16217763|REF_RGD_ID:11038717 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:0050746 mantle cell lymphoma susceptibility ISO RGD:1317580 D RGD:9068941 20200609 RGD DNA:SNP:exon:626C>G, 1322A>G (human) PMID:15531454|REF_RGD_ID:11038718 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:0060500 drug allergy ISO RGD:1317580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19652058 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:11054 urinary bladder cancer ISO RGD:1317580 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E228A (c.683A>C) (human) PMID:16217763|REF_RGD_ID:11038717 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:1227 neutropenia ISO RGD:1317580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19652058 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:14566 disease of cellular proliferation ISO RGD:1317580 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19652058 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:1588 thrombocytopenia ISO RGD:1317580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19652058 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:219 colon cancer disease_progression ISO RGD:1308041 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:20428773|REF_RGD_ID:2325778 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:2355 anemia ISO RGD:1317580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19652058 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:299 adenocarcinoma ISO RGD:1317580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:3007 breast ductal carcinoma ISO RGD:1317580 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast PMID:17011986|REF_RGD_ID:2290492 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:4362 cervical cancer ISO RGD:1317580 D RGD:9068941 20200609 RGD PMID:16271751|REF_RGD_ID:2290493 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:4448 macular degeneration ISO RGD:1317580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21909106 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:4450 renal cell carcinoma ISO RGD:1317580 D RGD:9068941 20200609 RGD PMID:17184908|REF_RGD_ID:2290491 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:4450 renal cell carcinoma ISO RGD:1317580 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:16865223|REF_RGD_ID:2290496 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:1317580 D RGD:9068941 20210521 RGD DNA:SNP:3'utr: (rs11775256) (human) PMID:21472143|REF_RGD_ID:126925218 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1317580 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E228A (c.683A>C) (human) PMID:16217763|REF_RGD_ID:11038717 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:574 peripheral nervous system disease ISO RGD:1317580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19652058 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:630 genetic disease ISO RGD:1317580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:8398 osteoarthritis ISO RGD:1308041 D RGD:9068941 20200609 RGD PMID:14872496|REF_RGD_ID:2290500 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:9000117 Esophageal Neoplasms ISO RGD:1317580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:9001109 Anorexia ISO RGD:1317580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19652058 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1317580 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E228A (c.683A>C) (human) PMID:16217763|REF_RGD_ID:11038717 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia susceptibility ISO RGD:1317580 D RGD:9068941 20200609 RGD DNA:SNP: :1322A>G (human) PMID:15531454|REF_RGD_ID:11038718 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:9002265 Kidney Neoplasms ISO RGD:1317580 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:10693703|REF_RGD_ID:2290497 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:9002304 Prostatic Neoplasms ISO RGD:1317580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:9002928 Colonic Neoplasms ISO RGD:1317580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17075118 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:9004751 Nausea ISO RGD:1317580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19652058 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1317581 D RGD:9068941 20200609 RGD PMID:17671220|REF_RGD_ID:2290495 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:9006617 Fatigue ISO RGD:1317580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19652058 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:1317580 D RGD:9068941 20201218 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:26541527|REF_RGD_ID:40902860 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1317580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:9007730 Burns ISO RGD:1308041 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:thymus PMID:18019056|REF_RGD_ID:2290498 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1317580 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:16033835|REF_RGD_ID:2290494 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:9538 multiple myeloma treatment ISO RGD:1317580 D RGD:9068941 20200609 RGD PMID:16531263|REF_RGD_ID:11038719 11848222 TNFRSF10A TNF receptor superfamily member 10a gene DOID:987 alopecia ISO RGD:1317580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19652058 11848236 SLC9A9 solute carrier family 9 member A9 gene DOID:0060041 autism spectrum disorder ISO RGD:1314948 D RGD:9068941 20220825 MouseDO 11848236 SLC9A9 solute carrier family 9 member A9 gene DOID:12849 autistic disorder ISO RGD:1314947 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autism, susceptibility to, 16 PMID:18621663|PMID:25741868|PMID:30927234 11848236 SLC9A9 solute carrier family 9 member A9 gene DOID:12849 autistic disorder susceptibility ISO RGD:1314947 D RGD:7240710 20190502 OMIM 11848236 SLC9A9 solute carrier family 9 member A9 gene DOID:630 genetic disease ISO RGD:1314947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848236 SLC9A9 solute carrier family 9 member A9 gene DOID:9256 colorectal cancer ISO RGD:1314947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 11848257 BUB1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:0080600 COVID-19 ISO RGD:1323304 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11848257 BUB1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:1520 colon carcinoma ISO RGD:1323304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:9521327 11848257 BUB1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:630 genetic disease ISO RGD:1323304 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11848257 BUB1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:684 hepatocellular carcinoma ISO RGD:1323304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11848257 BUB1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:9001690 Primary Autosomal Recessive Microcephaly 30 ISO RGD:1323304 D RGD:7240710 20230104 OMIM 11848257 BUB1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:9001690 Primary Autosomal Recessive Microcephaly 30 ISO RGD:1323304 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microcephaly 30, primary, autosomal recessive PMID:35044816 11848257 BUB1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1323304 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 11848257 BUB1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:9256 colorectal cancer ISO RGD:1323304 D RGD:7240710 20200226 OMIM 11848257 BUB1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:9256 colorectal cancer ISO RGD:1323304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer with chromosomal instability, somatic PMID:9521327 11848257 BUB1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:9256 colorectal cancer susceptibility ISO RGD:1323304 D RGD:9068941 20200609 RGD DNA:splice-site mutation, missense mutation PMID:9521327|REF_RGD_ID:1600539 11848287 RAB3IP RAB3A interacting protein gene DOID:630 genetic disease ISO RGD:732155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848307 TUBGCP6 tubulin gamma complex associated protein 6 gene DOID:0060041 autism spectrum disorder ISO RGD:1317114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 11848307 TUBGCP6 tubulin gamma complex associated protein 6 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1317114 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 11848307 TUBGCP6 tubulin gamma complex associated protein 6 gene DOID:0080105 microcephaly and chorioretinopathy 1 ISO RGD:1317114 D RGD:7240710 20180130 OMIM 11848307 TUBGCP6 tubulin gamma complex associated protein 6 gene DOID:0080105 microcephaly and chorioretinopathy 1 ISO RGD:1317114 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 1 PMID:17576681|PMID:22279524|PMID:25344692|PMID:25741868|PMID:28492532|PMID:31077665|PMID:5936364|PMID:9536098 11848307 TUBGCP6 tubulin gamma complex associated protein 6 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1317114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11848307 TUBGCP6 tubulin gamma complex associated protein 6 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1317114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 11848307 TUBGCP6 tubulin gamma complex associated protein 6 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1317114 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 11848307 TUBGCP6 tubulin gamma complex associated protein 6 gene DOID:1059 intellectual disability ISO RGD:1317114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11848307 TUBGCP6 tubulin gamma complex associated protein 6 gene DOID:10907 microcephaly ISO RGD:1317114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11848307 TUBGCP6 tubulin gamma complex associated protein 6 gene DOID:630 genetic disease ISO RGD:1317114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27660388|PMID:28492532 11848307 TUBGCP6 tubulin gamma complex associated protein 6 gene DOID:9005482 Microcephaly and Chorioretinopathy ISO RGD:1317114 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly and chorioretinopathy with or without intellectual disability PMID:25344692|PMID:25741868|PMID:28492532 11848336 MANBAL mannosidase beta like gene DOID:2234 focal epilepsy ISO RGD:1353788 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11848336 MANBAL mannosidase beta like gene DOID:630 genetic disease ISO RGD:1353788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848336 MANBAL mannosidase beta like gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1353788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 11848353 ZC2HC1B zinc finger C2HC-type containing 1B gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1349089 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:28492532 11848353 ZC2HC1B zinc finger C2HC-type containing 1B gene DOID:630 genetic disease ISO RGD:1349089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848367 USP10 ubiquitin specific peptidase 10 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1352341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 11848367 USP10 ubiquitin specific peptidase 10 gene DOID:5419 schizophrenia ISO RGD:1352341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11848367 USP10 ubiquitin specific peptidase 10 gene DOID:630 genetic disease ISO RGD:1352341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848385 FOXI2 forkhead box I2 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1602262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11848385 FOXI2 forkhead box I2 gene DOID:630 genetic disease ISO RGD:1602262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848396 LYG1 lysozyme g1 gene DOID:630 genetic disease ISO RGD:1602188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848411 GJD3 gap junction protein delta 3 gene DOID:630 genetic disease ISO RGD:1319005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848411 GJD3 gap junction protein delta 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1308942 D RGD:9068941 20200609 RGD protein:decreased expression:retina: PMID:23385797|REF_RGD_ID:7364769 11848418 ZNF704 zinc finger protein 704 gene DOID:630 genetic disease ISO RGD:1605749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848439 LOC100980975 insulin growth factor-like family member 3 gene DOID:630 genetic disease ISO RGD:1603833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848452 PXYLP1 2-phosphoxylose phosphatase 1 gene DOID:630 genetic disease ISO RGD:1342803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848480 HAO2 hydroxyacid oxidase 2 gene DOID:0050722 PHGDH deficiency ISO RGD:1346012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:14645240|PMID:24836451|PMID:28492532 11848480 HAO2 hydroxyacid oxidase 2 gene DOID:13580 cholestasis ISO RGD:1346012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 11848480 HAO2 hydroxyacid oxidase 2 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:1346012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 11848480 HAO2 hydroxyacid oxidase 2 gene DOID:630 genetic disease ISO RGD:1346012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848480 HAO2 hydroxyacid oxidase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1346012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11848480 HAO2 hydroxyacid oxidase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 11848480 HAO2 hydroxyacid oxidase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11848500 LRCH4 leucine rich repeats and calponin homology domain containing 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11848500 LRCH4 leucine rich repeats and calponin homology domain containing 4 gene DOID:630 genetic disease ISO RGD:1314592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848525 CERKL ceramide kinase like gene DOID:0050572 cone-rod dystrophy ISO RGD:1346381 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:14681825|PMID:15708351|PMID:19578027|PMID:21151602|PMID:22164218|PMID:221642182|PMID:24043777|PMID:24123366|PMID:24625443|PMID:24705292|PMID:25097241|PMID:25741868|PMID:25999674|PMID:28041643|PMID:28492532|PMID:30718709 11848525 CERKL ceramide kinase like gene DOID:0050795 cone dystrophy ISO RGD:1346381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:14681825|PMID:15708351|PMID:16199547|PMID:19578027|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23591405|PMID:24043777|PMID:24123366|PMID:24625443|PMID:24705292|PMID:25097241|PMID:25741868|PMID:25999674|PMID:28041643|PMID:28492532|PMID:28838317|PMID:30718709 11848525 CERKL ceramide kinase like gene DOID:0050817 Stargardt disease ISO RGD:1346381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:14681825|PMID:16199547|PMID:23591405|PMID:24043777|PMID:27813578|PMID:28492532 11848525 CERKL ceramide kinase like gene DOID:0110368 retinitis pigmentosa 26 ISO RGD:1346381 D RGD:7240710 20180130 OMIM 11848525 CERKL ceramide kinase like gene DOID:0110368 retinitis pigmentosa 26 ISO RGD:1346381 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 26 PMID:14681825|PMID:15708351|PMID:16199547|PMID:17576681|PMID:18055789|PMID:18978954|PMID:19501188|PMID:19578027|PMID:19667359|PMID:20554613|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23591405|PMID:23661369|PMID:24043777|PMID:24123366|PMID:24498393|PMID:24625443|PMID:24705292|PMID:24735978|PMID:25097241|PMID:25356976|PMID:25741868|PMID:25999674|PMID:26103963|PMID:26355662|PMID:26766544|PMID:27208204|PMID:27898983|PMID:28041643|PMID:28130426|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29068140|PMID:29555955|PMID:30029497|PMID:30337596|PMID:30718709|PMID:31054281|PMID:31106028|PMID:31456290|PMID:31816670|PMID:33090715|PMID:33322828|PMID:33749171|PMID:34315337|PMID:9536098 11848525 CERKL ceramide kinase like gene DOID:10584 retinitis pigmentosa ISO RGD:1346381 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:14681825|PMID:15708351|PMID:17576681|PMID:20554613|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23105016|PMID:23591405|PMID:24043777|PMID:24123366|PMID:24498393|PMID:24625443|PMID:25097241|PMID:25342276|PMID:25741868|PMID:25999674|PMID:26355662|PMID:28041643|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29068140|PMID:30054919|PMID:30718709|PMID:31456290|PMID:32531858|PMID:9536098 11848525 CERKL ceramide kinase like gene DOID:10584 retinitis pigmentosa ISO RGD:1346381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:14681825|PMID:15708351|PMID:16199547|PMID:17576681|PMID:18055789|PMID:18978954|PMID:19578027|PMID:20554613|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23105016|PMID:23591405|PMID:24043777|PMID:24123366|PMID:24498393|PMID:24547929|PMID:24625443|PMID:24705292|PMID:25097241|PMID:25342276|PMID:25741868|PMID:25999674|PMID:26355662|PMID:27208204|PMID:28041643|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29068140|PMID:30054919|PMID:30718709|PMID:31456290|PMID:31816670|PMID:32531858|PMID:33322828|PMID:33749171|PMID:9536098 11848525 CERKL ceramide kinase like gene DOID:10584 retinitis pigmentosa susceptibility ISO RGD:1346381 D RGD:9068941 20200609 RGD DNA:mutation:exon PMID:14681825|REF_RGD_ID:1600829 11848525 CERKL ceramide kinase like gene DOID:4448 macular degeneration ISO RGD:1346381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:25741868 11848525 CERKL ceramide kinase like gene DOID:630 genetic disease ISO RGD:1346381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11848525 CERKL ceramide kinase like gene DOID:8501 fundus dystrophy ISO RGD:1346381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:14681825|PMID:15708351|PMID:18978954|PMID:19501188|PMID:19578027|PMID:20554613|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23591405|PMID:23661369|PMID:24043777|PMID:24123366|PMID:24498393|PMID:24625443|PMID:24705292|PMID:24735978|PMID:25097241|PMID:25356976|PMID:25741868|PMID:25999674|PMID:27208204|PMID:28041643|PMID:28130426|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29068140|PMID:30718709|PMID:33322828|PMID:34315337 11848542 YPEL2 yippee like 2 gene DOID:0050777 Joubert syndrome ISO RGD:1604154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11848551 FIRRM FIGNL1 interacting regulator of recombination and mitosis gene DOID:1540 parathyroid carcinoma ISO RGD:1603990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11848551 FIRRM FIGNL1 interacting regulator of recombination and mitosis gene DOID:630 genetic disease ISO RGD:1603990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848551 FIRRM FIGNL1 interacting regulator of recombination and mitosis gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1603990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 11848551 FIRRM FIGNL1 interacting regulator of recombination and mitosis gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11848591 GZMH granzyme H gene DOID:0060439 lysinuric protein intolerance ISO RGD:1348061 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11848591 GZMH granzyme H gene DOID:630 genetic disease ISO RGD:1348061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848591 GZMH granzyme H gene DOID:9000265 Specific Granule Deficiency ISO RGD:1348061 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11848591 GZMH granzyme H gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1348061 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11848600 WWTR1 WW domain containing transcription regulator 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:1349820 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 11848600 WWTR1 WW domain containing transcription regulator 1 gene DOID:12712 nephronophthisis ISO RGD:1617441 D RGD:9068941 20220825 MouseDO 11848600 WWTR1 WW domain containing transcription regulator 1 gene DOID:4051 alveolar rhabdomyosarcoma ISO RGD:1349820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31494105 11848600 WWTR1 WW domain containing transcription regulator 1 gene DOID:630 genetic disease ISO RGD:1349820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848600 WWTR1 WW domain containing transcription regulator 1 gene DOID:767 muscular atrophy ISO RGD:1349820 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24550007 11848630 WDR54 WD repeat domain 54 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1347717 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11848630 WDR54 WD repeat domain 54 gene DOID:543 dystonia ISO RGD:1347717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11848630 WDR54 WD repeat domain 54 gene DOID:630 genetic disease ISO RGD:1347717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848630 WDR54 WD repeat domain 54 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1347717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11848651 FLRT3 fibronectin leucine rich transmembrane protein 3 gene DOID:0090093 hypogonadotropic hypogonadism 21 with or without anosmia ISO RGD:1350548 D RGD:7240710 20180130 OMIM 11848651 FLRT3 fibronectin leucine rich transmembrane protein 3 gene DOID:0090093 hypogonadotropic hypogonadism 21 with or without anosmia ISO RGD:1350548 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 21 with or without anosmia PMID:23643382|PMID:25741868|PMID:28492532 11848651 FLRT3 fibronectin leucine rich transmembrane protein 3 gene DOID:13938 amenorrhea ISO RGD:1350548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 11848651 FLRT3 fibronectin leucine rich transmembrane protein 3 gene DOID:1923 disorder of sexual development ISO RGD:1350548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 11848651 FLRT3 fibronectin leucine rich transmembrane protein 3 gene DOID:630 genetic disease ISO RGD:1350548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848651 FLRT3 fibronectin leucine rich transmembrane protein 3 gene DOID:9002189 High Myopia ISO RGD:1350548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11848651 FLRT3 fibronectin leucine rich transmembrane protein 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:1350548 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11848671 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:0050581 brachydactyly ISO RGD:1354405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:22374147|PMID:25741868|PMID:25758993|PMID:26105076|PMID:28492532 11848671 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:0080006 bone development disease ISO RGD:1354405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15805157 11848671 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type ISO RGD:1354405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type PMID:29322508 11848671 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:0081237 acromesomelic dysplasia-3 ISO RGD:1354405 D RGD:7240710 20180130 OMIM 11848671 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:0081237 acromesomelic dysplasia-3 ISO RGD:1354405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 3 PMID:15805157|PMID:22374147|PMID:24129431|PMID:25741868|PMID:25758993|PMID:26105076|PMID:28492532 11848671 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:0110965 brachydactyly type A2 ISO RGD:1354405 D RGD:7240710 20180130 OMIM 11848671 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:0110965 brachydactyly type A2 ISO RGD:1354405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly type A2 PMID:14523231|PMID:16957682|PMID:17576681|PMID:22374147|PMID:25741868|PMID:25758993|PMID:26105076|PMID:28492532|PMID:31769494|PMID:9536098 11848671 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:0110978 brachydactyly type A1D ISO RGD:1354405 D RGD:7240710 20190315 OMIM 11848671 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:0110978 brachydactyly type A1D ISO RGD:1354405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly type A1D PMID:25758993 11848671 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:14557 primary pulmonary hypertension ISO RGD:1354405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic pulmonary arterial hypertension PMID:22374147|PMID:25741868|PMID:25758993|PMID:28492532 11848671 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:2256 osteochondrodysplasia ISO RGD:1354405 D RGD:9068941 20200609 RGD acromesomelic chondrodysplasia and genital anomalies, OMIM:609441, DNA:deletion:exon PMID:15805157|REF_RGD_ID:1600593 11848671 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:2841 asthma ISO RGD:1354405 D RGD:9068941 20200609 RGD protein:decreased expression:bronchus PMID:18292470|REF_RGD_ID:5129470 11848671 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:5426 primary ovarian insufficiency ISO RGD:1354405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 11848671 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:630 genetic disease ISO RGD:1354405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11848671 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:6432 pulmonary hypertension ISO RGD:1354405 D RGD:9068941 20200609 RGD PMID:19324947|REF_RGD_ID:5129472 11848671 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1354405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease PMID:25741868|PMID:30029678 11848671 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11848671 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:9006294 Congenital Limb Deformities ISO RGD:1354405 D RGD:9068941 20200609 RGD type A2 brachydactyly, OMIM:112600; type C brachydactyly, OMIM:113100, with symphalangism, DNA:point mutations:exon:R486W; R486Q PMID:14523231|REF_RGD_ID:1334470 11848671 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:9007888 Primary Pulmonary Hypertension, 3 ISO RGD:1354405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3 PMID:25741868|PMID:28492532 11848671 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:9008296 Eye Abnormalities ISO RGD:1354405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15804571 11848671 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1354405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15804571 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:68977 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:0050851 glomerulosclerosis ISO RGD:2070 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:12495295|REF_RGD_ID:6903859 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:0060224 atrial fibrillation ISO RGD:68977 D RGD:9068941 20200609 RGD associated with Mitral Valve Insufficiency PMID:20080265|REF_RGD_ID:5147453 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:0080600 COVID-19 ISO RGD:68977 D RGD:9068941 20200702 RGD associated with hypertension PMID:32228222|REF_RGD_ID:30296671 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:0111682 diffuse cystic renal dysplasia ISO RGD:68977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal dysplasia, cystic, susceptibility to PMID:25741868|PMID:35005812 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:10652 Alzheimer's disease ISO RGD:68977 D RGD:9068941 20200609 RGD protein:decreased expression:substantia nigra: PMID:8666063|REF_RGD_ID:10047397 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:68977 D RGD:9068941 20200609 RGD PMID:21929736|REF_RGD_ID:10047395 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:1073 renal hypertension ISO RGD:2070 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney: PMID:7591011|REF_RGD_ID:10047107 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:10763 hypertension ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:21346625|PMID:9622148|REF_RGD_ID:5129176|REF_RGD_ID:8549458 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:10763 hypertension ISO RGD:2070 D RGD:9068941 20200609 RGD associated with Sleep Apnea Syndromes PMID:21040717|REF_RGD_ID:5129169 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:10763 hypertension ISO RGD:2070 D RGD:9068941 20200609 RGD mRNA:increased expression:aortic endothelial cell PMID:8181542|REF_RGD_ID:5147456 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:10763 hypertension ISO RGD:68977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19047579|PMID:23603059|PMID:27292124|PMID:8952600 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:10763 hypertension no_association ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1166A>C PMID:9456365|REF_RGD_ID:1601152 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:10763 hypertension susceptibility ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:g.1166A>C PMID:16519598|REF_RGD_ID:1601148 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:10825 essential hypertension ISO RGD:68977 D RGD:7240710 20180130 OMIM 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:10825 essential hypertension ISO RGD:68977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Essential hypertension | ClinVar Annotator: match by term: Essential hypertension, genetic | ClinVar Annotator: match by term: Hypertension, essential, susceptibility to PMID:15042429|PMID:25741868|PMID:28492532|PMID:28973083|PMID:8021009|PMID:9084931 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:10825 essential hypertension treatment ISO RGD:68977 D RGD:9068941 20200609 RGD PMID:18604484|REF_RGD_ID:10047396 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:10952 nephritis ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:12077487|REF_RGD_ID:6903864 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:11335 sarcoidosis ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:polymorphism: :1166A>C (human) PMID:20560294|REF_RGD_ID:5129165 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:11335 sarcoidosis no_association ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:polymorphism: :1166A>C (human) PMID:21319597|REF_RGD_ID:5129164 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:12858 Huntington's disease ISO RGD:68977 D RGD:9068941 20200609 RGD protein:decreased expression:putamen: PMID:8666063|REF_RGD_ID:10047397 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:20886512|REF_RGD_ID:5129198 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:12930 dilated cardiomyopathy treatment ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:22120037|REF_RGD_ID:8549486 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:2070 D RGD:9068941 20200609 RGD protein:increased expression:kidney cortex PMID:21357516|REF_RGD_ID:5129175 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:13832 patent ductus arteriosus ISO RGD:68977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12904590|PMID:19336370 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:14330 Parkinson's disease ISO RGD:68977 D RGD:9068941 20200609 RGD protein:decreased expression:caudate nucleus,putamen,substantia nigra: PMID:8666063|REF_RGD_ID:10047397 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:1591 renovascular hypertension ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:16796846|PMID:21326341|REF_RGD_ID:5129177|REF_RGD_ID:5147455 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:1591 renovascular hypertension ISO RGD:2070 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney: PMID:9644212|REF_RGD_ID:10047119 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:1612 breast cancer ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype: :1166A>C (human) PMID:23828384|REF_RGD_ID:8548866 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:2018 hyperinsulinism ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:16565309|REF_RGD_ID:1642975 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:2841 asthma ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:19080339|REF_RGD_ID:5147457 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:68977 D RGD:9068941 20200609 RGD protein:increased expression:kidney tubule PMID:15930094|REF_RGD_ID:6903851 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:3393 coronary artery disease ISO RGD:68977 D RGD:9068941 20200609 RGD PMID:12975417|REF_RGD_ID:1566498 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:3407 carotid artery disease susceptibility ISO RGD:68977 D RGD:9068941 20200609 RGD associated with hypertension;DNA:polymorphism:3' utr:g.1166A>C PMID:16519598|REF_RGD_ID:1601148 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:68977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17481528 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:3891 placental insufficiency ISO RGD:2070 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:placenta PMID:20621762|REF_RGD_ID:5147460 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:4450 renal cell carcinoma severity ISO RGD:68977 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:21102591|REF_RGD_ID:6903280 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:2070 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:21282555|REF_RGD_ID:5129185 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:557 kidney disease ISO RGD:68977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15213268 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:576 proteinuria ISO RGD:2070 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:20042458|REF_RGD_ID:6903284 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:576 proteinuria ISO RGD:68977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17021606 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:5844 myocardial infarction ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:9652322|REF_RGD_ID:10047101 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:5844 myocardial infarction no_association ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1166A>C (human) PMID:9857918|REF_RGD_ID:1566499 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1166A>C PMID:16061119|REF_RGD_ID:1601150 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:6000 congestive heart failure ISO RGD:68977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17208988|PMID:18214293|PMID:18586661 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:6000 congestive heart failure treatment ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:21963897|REF_RGD_ID:8549482 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:630 genetic disease ISO RGD:68977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:6432 pulmonary hypertension onset ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1166A>C (human) PMID:19332265|REF_RGD_ID:5147450 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:6713 cerebrovascular disease susceptibility ISO RGD:68977 D RGD:9068941 20200609 RGD associated with hypertension;DNA:polymorphism:3' utr:1166A>C PMID:16109907|REF_RGD_ID:1601149 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:7693 abdominal aortic aneurysm ISO RGD:68977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22539767 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:784 chronic kidney disease ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:12089373|REF_RGD_ID:6903863 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:784 chronic kidney disease disease_progression ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1166A>C (human) PMID:12832734|REF_RGD_ID:8548869 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:8805 intermediate coronary syndrome ISO RGD:68977 D RGD:9068941 20200609 RGD mRNA:increased expression:myocardium PMID:11451295|REF_RGD_ID:8548894 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:8947 diabetic retinopathy ISO RGD:68977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16601577 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:68977 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic;DNA:polymorphism: :1166A>C (human PMID:16105049|REF_RGD_ID:8548864 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:9000528 Coronary Disease no_association ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1166A>C (human) PMID:9857918|REF_RGD_ID:1566499 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1166A>C PMID:9456365|REF_RGD_ID:1601152 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:9000784 Fibrosis ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:21367774|REF_RGD_ID:5129174 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:14982483|REF_RGD_ID:6903857 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:68977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18059164 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2070 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:12172324|REF_RGD_ID:6903861 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:68977 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphism: :1166A>C (human) PMID:12476891|REF_RGD_ID:8548891 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:21303825|REF_RGD_ID:5129179 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:9002234 Pituitary Neoplasms ISO RGD:68977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16977796 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:9003234 Hypertensive Nephropathy treatment ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:22089474|REF_RGD_ID:8548895 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:68977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:9003936 Cardiomegaly ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:11324571|PMID:21367774|REF_RGD_ID:10047105|REF_RGD_ID:5129174 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:9003936 Cardiomegaly ISO RGD:68977 D RGD:9068941 20200609 RGD PMID:10639182|REF_RGD_ID:737777 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:9004616 Left Ventricular Hypertrophy susceptibility ISO RGD:68977 D RGD:9068941 20200609 RGD associated with hypertension;DNA:polymorphism:3' utr:1166A>C PMID:15612584|REF_RGD_ID:1601151 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:18421211|REF_RGD_ID:2292665 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:9006137 Renal Tubular Dysgenesis ISO RGD:68977 D RGD:7240710 20180130 OMIM 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:9006137 Renal Tubular Dysgenesis ISO RGD:68977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal tubular dysgenesis | ClinVar Annotator: match by term: Renal tubular dysgenesis of genetic origin PMID:15042429|PMID:16116425|PMID:18641512|PMID:20948563|PMID:21179236|PMID:22095942|PMID:22569962|PMID:24033266|PMID:25741868|PMID:26220970|PMID:28492532|PMID:35005812|PMID:8021009|PMID:9084931 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:9006182 Carotid Artery Injuries treatment ISO RGD:2070 D RGD:9068941 20200609 RGD mRNA:increased expression:artery: PMID:9918604|REF_RGD_ID:10047106 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:9006358 Postoperative Cognitive Dysfunction ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:24814703|REF_RGD_ID:10047100 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:snp:3' utr:c.5186A>C PMID:17211857|REF_RGD_ID:1601146 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:9007174 Ventricular Remodeling ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:18252761|REF_RGD_ID:10047108 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2070 D RGD:9068941 20200609 RGD protein:increased expression:myocardium PMID:21078800|REF_RGD_ID:5129194 11848690 AGTR1 angiotensin II receptor type 1 gene DOID:9620 vesicoureteral reflux ISO RGD:68977 D RGD:9068941 20200609 RGD PMID:11819209|REF_RGD_ID:6903866 11848702 FAM8A1 family with sequence similarity 8 member A1 gene DOID:630 genetic disease ISO RGD:1351875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848711 REG1B regenerating family member 1 beta gene DOID:630 genetic disease ISO RGD:1346386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848721 ASNSD1 asparagine synthetase domain containing 1 gene DOID:0111944 immunodeficiency 31B ISO RGD:1603641 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 11848721 ASNSD1 asparagine synthetase domain containing 1 gene DOID:630 genetic disease ISO RGD:1603641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848721 ASNSD1 asparagine synthetase domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11848735 SPOUT1 SPOUT domain containing methyltransferase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1343592 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11848735 SPOUT1 SPOUT domain containing methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1343592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848766 NFRKB nuclear factor related to kappaB binding protein gene DOID:0111723 Jacobsen Syndrome ISO RGD:1321531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11848766 NFRKB nuclear factor related to kappaB binding protein gene DOID:5419 schizophrenia ISO RGD:1321531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11848766 NFRKB nuclear factor related to kappaB binding protein gene DOID:630 genetic disease ISO RGD:1321531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848766 NFRKB nuclear factor related to kappaB binding protein gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1321531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11848766 NFRKB nuclear factor related to kappaB binding protein gene DOID:9007661 Dwarfism ISO RGD:1321531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11848819 MIF macrophage migration inhibitory factor gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:734203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9372356 11848819 MIF macrophage migration inhibitory factor gene DOID:0050700 cardiomyopathy ISO RGD:621163 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:15879312|REF_RGD_ID:1641991 11848819 MIF macrophage migration inhibitory factor gene DOID:0060041 autism spectrum disorder ISO RGD:734203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30503813 11848819 MIF macrophage migration inhibitory factor gene DOID:0060180 colitis ISO RGD:621163 D RGD:9068941 20200609 RGD PMID:17324399|REF_RGD_ID:1641979 11848819 MIF macrophage migration inhibitory factor gene DOID:0060180 colitis ISO RGD:734203 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12105854 11848819 MIF macrophage migration inhibitory factor gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:621163 D RGD:9068941 20200609 RGD PMID:12612911|REF_RGD_ID:727512 11848819 MIF macrophage migration inhibitory factor gene DOID:0081135 agammaglobulinemia 2 ISO RGD:734203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 11848819 MIF macrophage migration inhibitory factor gene DOID:10533 viral pneumonia ISO RGD:734204 D RGD:9068941 20200609 RGD PMID:19941385|REF_RGD_ID:4891005 11848819 MIF macrophage migration inhibitory factor gene DOID:10763 hypertension ISO RGD:621163 D RGD:9068941 20200609 RGD PMID:19799867|REF_RGD_ID:4890974 11848819 MIF macrophage migration inhibitory factor gene DOID:11396 pulmonary edema ISO RGD:734204 D RGD:9068941 20200609 RGD associated with hemorrhage PMID:17277045|REF_RGD_ID:4891015 11848819 MIF macrophage migration inhibitory factor gene DOID:11650 bronchopulmonary dysplasia ISO RGD:734203 D RGD:9068941 20200609 RGD associated with Respiratory Distress Syndrome, Newborn; protein:increased expression:lung PMID:18097062|REF_RGD_ID:4891007 11848819 MIF macrophage migration inhibitory factor gene DOID:1205 allergic disease ISO RGD:734203 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter: PMID:14962818|REF_RGD_ID:4891046 11848819 MIF macrophage migration inhibitory factor gene DOID:12716 newborn respiratory distress syndrome ISO RGD:734204 D RGD:9068941 20200609 RGD PMID:18097062|REF_RGD_ID:4891007 11848819 MIF macrophage migration inhibitory factor gene DOID:12849 autistic disorder ISO RGD:734203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18676531 11848819 MIF macrophage migration inhibitory factor gene DOID:14115 toxic shock syndrome ISO RGD:621163 D RGD:9068941 20200609 RGD PMID:17381395|PMID:17565848|REF_RGD_ID:1641978|REF_RGD_ID:4891013 11848819 MIF macrophage migration inhibitory factor gene DOID:1485 cystic fibrosis severity ISO RGD:734203 D RGD:9068941 20200609 RGD DNA:repeats:promoter PMID:16179637|REF_RGD_ID:4891053 11848819 MIF macrophage migration inhibitory factor gene DOID:1596 depressive disorder ISO RGD:734203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20177408 11848819 MIF macrophage migration inhibitory factor gene DOID:1679 cystitis ISO RGD:621163 D RGD:9068941 20200609 RGD PMID:19066630|REF_RGD_ID:4890977 11848819 MIF macrophage migration inhibitory factor gene DOID:1679 cystitis ISO RGD:621163 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:nervous system PMID:12853844|REF_RGD_ID:1642002 11848819 MIF macrophage migration inhibitory factor gene DOID:1790 malignant mesothelioma ISO RGD:734203 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 11848819 MIF macrophage migration inhibitory factor gene DOID:1826 epilepsy ISO RGD:734203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11848819 MIF macrophage migration inhibitory factor gene DOID:2030 anxiety disorder ISO RGD:734203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20177408 11848819 MIF macrophage migration inhibitory factor gene DOID:2349 arteriosclerosis ISO RGD:734204 D RGD:9068941 20200609 RGD PMID:17435771|REF_RGD_ID:1641949 11848819 MIF macrophage migration inhibitory factor gene DOID:2841 asthma ISO RGD:621163 D RGD:9068941 20200609 RGD PMID:16455830|REF_RGD_ID:1641985 11848819 MIF macrophage migration inhibitory factor gene DOID:2841 asthma ISO RGD:734203 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs755622(human) PMID:19317738|REF_RGD_ID:4891059 11848819 MIF macrophage migration inhibitory factor gene DOID:2841 asthma ISO RGD:734203 D RGD:9068941 20200609 RGD protein:increased expression:bronchoalveolar lavage fluid PMID:9637721|REF_RGD_ID:4891043 11848819 MIF macrophage migration inhibitory factor gene DOID:2841 asthma ISO RGD:734204 D RGD:9068941 20200609 RGD PMID:17373669|REF_RGD_ID:4891035 11848819 MIF macrophage migration inhibitory factor gene DOID:2841 asthma severity ISO RGD:734203 D RGD:9068941 20200609 RGD DNA:repeats:promoter PMID:16186482|REF_RGD_ID:4891052 11848819 MIF macrophage migration inhibitory factor gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:734203 D RGD:9068941 20200609 RGD DNA:SNP: :rs755622 (human) PMID:20439102|REF_RGD_ID:4891004 11848819 MIF macrophage migration inhibitory factor gene DOID:305 carcinoma ISO RGD:734203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11848819 MIF macrophage migration inhibitory factor gene DOID:3612 retinitis ISO RGD:621163 D RGD:9068941 20200609 RGD PMID:10617911|REF_RGD_ID:1642013 11848819 MIF macrophage migration inhibitory factor gene DOID:3908 lung non-small cell carcinoma ISO RGD:734203 D RGD:9068941 20200609 RGD PMID:12576459|REF_RGD_ID:4891022 11848819 MIF macrophage migration inhibitory factor gene DOID:4483 rhinitis ISO RGD:734204 D RGD:9068941 20200609 RGD PMID:15922619|REF_RGD_ID:4891056 11848819 MIF macrophage migration inhibitory factor gene DOID:4483 rhinitis severity ISO RGD:734203 D RGD:9068941 20200609 RGD protein:increased expression:serum, nasal mucosa PMID:15053202|REF_RGD_ID:4891045 11848819 MIF macrophage migration inhibitory factor gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:621163 D RGD:9068941 20200609 RGD PMID:10780884|REF_RGD_ID:1642011 11848819 MIF macrophage migration inhibitory factor gene DOID:5154 borna disease ISO RGD:621163 D RGD:9068941 20200609 RGD protein:increased expression:astrocyte PMID:11870869|REF_RGD_ID:1642006 11848819 MIF macrophage migration inhibitory factor gene DOID:5419 schizophrenia ISO RGD:734203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11848819 MIF macrophage migration inhibitory factor gene DOID:552 pneumonia severity ISO RGD:734203 D RGD:9068941 20200609 RGD DNA:repeats:promoter PMID:19346297|REF_RGD_ID:4891058 11848819 MIF macrophage migration inhibitory factor gene DOID:557 kidney disease ISO RGD:621163 D RGD:9068941 20200609 RGD associated with Hypercholesterolemia;mRNA:increased expression:glomerulus PMID:9158105|REF_RGD_ID:1641957 11848819 MIF macrophage migration inhibitory factor gene DOID:5844 myocardial infarction ISO RGD:621163 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium PMID:12704210|REF_RGD_ID:1642003 11848819 MIF macrophage migration inhibitory factor gene DOID:5844 myocardial infarction ISO RGD:734203 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:11589847|REF_RGD_ID:1642008 11848819 MIF macrophage migration inhibitory factor gene DOID:630 genetic disease ISO RGD:734203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848819 MIF macrophage migration inhibitory factor gene DOID:6432 pulmonary hypertension ISO RGD:734203 D RGD:9068941 20200609 RGD associated with sclerodema, systemic; protein:increased expression:serum PMID:18618071|REF_RGD_ID:4891006 11848819 MIF macrophage migration inhibitory factor gene DOID:7148 rheumatoid arthritis ISO RGD:734203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16872482 11848819 MIF macrophage migration inhibitory factor gene DOID:820 myocarditis onset ISO RGD:621163 D RGD:9068941 20200609 RGD PMID:15276025|REF_RGD_ID:1641993 11848819 MIF macrophage migration inhibitory factor gene DOID:850 lung disease ISO RGD:621163 D RGD:9068941 20200609 RGD acute lung injury PMID:9700137|REF_RGD_ID:4891023 11848819 MIF macrophage migration inhibitory factor gene DOID:850 lung disease ISO RGD:734203 D RGD:9068941 20200609 RGD acute lung injury; mRNA, protein:increased expression, increased secretion:Bronchoalveolar Lavage, serum PMID:17585860|REF_RGD_ID:4891012 11848819 MIF macrophage migration inhibitory factor gene DOID:850 lung disease ISO RGD:734204 D RGD:9068941 20200609 RGD acute lung injury; associated with pancreatitis and endotoxemia PMID:16574946|REF_RGD_ID:4891017 11848819 MIF macrophage migration inhibitory factor gene DOID:850 lung disease ISO RGD:734204 D RGD:9068941 20200609 RGD acute lung injury; mRNA, protein:increased expression, increased secretion:lung, serum PMID:17585860|REF_RGD_ID:4891012 11848819 MIF macrophage migration inhibitory factor gene DOID:9000039 Spinal Cord Injuries ISO RGD:621163 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord, microglial cell PMID:15067555|REF_RGD_ID:1641997 11848819 MIF macrophage migration inhibitory factor gene DOID:9000058 Keloid ISO RGD:734203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 11848819 MIF macrophage migration inhibitory factor gene DOID:9000099 Experimental Colitis severity ISO RGD:734204 D RGD:9068941 20200806 RGD PMID:15807847|REF_RGD_ID:36947390 11848819 MIF macrophage migration inhibitory factor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:734203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11848819 MIF macrophage migration inhibitory factor gene DOID:9000528 Coronary Disease ISO RGD:621163 D RGD:9068941 20200609 RGD coronary occlusion; mRNA:increased expression:myocardium PMID:20367970|REF_RGD_ID:4890973 11848819 MIF macrophage migration inhibitory factor gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:734204 D RGD:9068941 20200609 RGD PMID:17373669|REF_RGD_ID:4891035 11848819 MIF macrophage migration inhibitory factor gene DOID:9000808 Hypercholesterolemia ISO RGD:621163 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:9158105|REF_RGD_ID:1641957 11848819 MIF macrophage migration inhibitory factor gene DOID:9000918 Disease Progression ISO RGD:734203 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34797429 11848819 MIF macrophage migration inhibitory factor gene DOID:9000998 Brain Injuries ISO RGD:621163 D RGD:9068941 20200609 RGD PMID:15922484|REF_RGD_ID:1641989 11848819 MIF macrophage migration inhibitory factor gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:621163 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:11798463|REF_RGD_ID:1642007 11848819 MIF macrophage migration inhibitory factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621163 D RGD:9068941 20200609 RGD protein:increased expression:hepatocyte PMID:14706927|REF_RGD_ID:1642000 11848819 MIF macrophage migration inhibitory factor gene DOID:9002019 Granuloma ISO RGD:621163 D RGD:9068941 20200609 RGD associated with Kidney Diseases PMID:11126199|REF_RGD_ID:1642009 11848819 MIF macrophage migration inhibitory factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:734203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17728788 11848819 MIF macrophage migration inhibitory factor gene DOID:9002457 Experimental Arthritis ISO RGD:621163 D RGD:9068941 20200609 RGD PMID:10765927|REF_RGD_ID:1642012 11848819 MIF macrophage migration inhibitory factor gene DOID:9002765 Systemic Juvenile Rheumatoid Arthritis ISO RGD:734203 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 11848819 MIF macrophage migration inhibitory factor gene DOID:9002765 Systemic Juvenile Rheumatoid Arthritis susceptibility ISO RGD:734203 D RGD:7240710 20230505 OMIM 11848819 MIF macrophage migration inhibitory factor gene DOID:9004009 Reperfusion Injury disease_progression ISO RGD:734204 D RGD:9068941 20200609 RGD PMID:18055556|REF_RGD_ID:4891010 11848819 MIF macrophage migration inhibitory factor gene DOID:9004484 Sepsis ISO RGD:734203 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9892616 11848819 MIF macrophage migration inhibitory factor gene DOID:9004484 Sepsis ISO RGD:734203 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17585860|REF_RGD_ID:4891012 11848819 MIF macrophage migration inhibitory factor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11848819 MIF macrophage migration inhibitory factor gene DOID:9005372 Inflammation ISO RGD:621163 D RGD:9068941 20200609 RGD PMID:16455830|REF_RGD_ID:1641985 11848819 MIF macrophage migration inhibitory factor gene DOID:9005372 Inflammation ISO RGD:734203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20127836 11848819 MIF macrophage migration inhibitory factor gene DOID:9005372 Inflammation ISO RGD:734204 D RGD:9068941 20200609 RGD PMID:17435771|REF_RGD_ID:1641949 11848819 MIF macrophage migration inhibitory factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734204 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic islet PMID:15790730|REF_RGD_ID:1641951 11848819 MIF macrophage migration inhibitory factor gene DOID:9005930 Endotoxemia ISO RGD:621163 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16601957|REF_RGD_ID:1641983 11848819 MIF macrophage migration inhibitory factor gene DOID:9007096 Stroke ISO RGD:621163 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brain PMID:19131653|REF_RGD_ID:4890976 11848819 MIF macrophage migration inhibitory factor gene DOID:9007096 Stroke ISO RGD:734203 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:leukocytes, mononuclear, plasma PMID:19131653|REF_RGD_ID:4890976 11848819 MIF macrophage migration inhibitory factor gene DOID:9007253 Hamartoma ISO RGD:734203 D RGD:9068941 20200609 RGD associated with lung disease; protein:increased expression:lung PMID:18074864|REF_RGD_ID:4891009 11848819 MIF macrophage migration inhibitory factor gene DOID:9007692 Insulin Resistance ISO RGD:734203 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:12552367|REF_RGD_ID:1641955 11848819 MIF macrophage migration inhibitory factor gene DOID:9007730 Burns ISO RGD:621163 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, serum PMID:14625478|REF_RGD_ID:1642001 11848819 MIF macrophage migration inhibitory factor gene DOID:9007840 Chylothorax ISO RGD:734203 D RGD:9068941 20200609 RGD protein:increased expression:amniotic fluid PMID:17295350|REF_RGD_ID:4891014 11848819 MIF macrophage migration inhibitory factor gene DOID:9008023 Memory Disorders ISO RGD:734203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20177408 11848819 MIF macrophage migration inhibitory factor gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:734203 D RGD:9068941 20200609 RGD associated with carcinoma, non-small-cell lung; DNA:SNP: :rs755622(human) PMID:20811626|REF_RGD_ID:5131286 11848819 MIF macrophage migration inhibitory factor gene DOID:9008939 Breast Neoplasms ISO RGD:734203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19602265 11848819 MIF macrophage migration inhibitory factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:621163 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney cortex, epithelial cell PMID:16571782|REF_RGD_ID:1641984 11848819 MIF macrophage migration inhibitory factor gene DOID:9970 obesity ISO RGD:734203 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter PMID:16247506|REF_RGD_ID:1641950 11848819 MIF macrophage migration inhibitory factor gene DOID:9970 obesity ISO RGD:734203 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:mononuclear cell, plasma PMID:15472203|REF_RGD_ID:1641953 11848872 GPANK1 G-patch domain and ankyrin repeats 1 gene DOID:0050553 JMP syndrome ISO RGD:1321766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11848872 GPANK1 G-patch domain and ankyrin repeats 1 gene DOID:11372 megacolon ISO RGD:1321766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11848872 GPANK1 G-patch domain and ankyrin repeats 1 gene DOID:630 genetic disease ISO RGD:1321766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848907 KIAA1958 KIAA1958 ortholog gene DOID:0080600 COVID-19 ISO RGD:1322143 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11848907 KIAA1958 KIAA1958 ortholog gene DOID:630 genetic disease ISO RGD:1322143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848918 C5H5orf58 chromosome 5 C5orf58 homolog gene DOID:0111951 immunodeficiency 40 ISO RGD:3403707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:26083206|PMID:28492532 11848918 C5H5orf58 chromosome 5 C5orf58 homolog gene DOID:630 genetic disease ISO RGD:3403707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848945 ERP27 endoplasmic reticulum protein 27 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1605301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 11848945 ERP27 endoplasmic reticulum protein 27 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1605301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 11848945 ERP27 endoplasmic reticulum protein 27 gene DOID:630 genetic disease ISO RGD:1605301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848958 CXCL13 C-X-C motif chemokine ligand 13 gene DOID:1790 malignant mesothelioma ISO RGD:1342514 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 11848958 CXCL13 C-X-C motif chemokine ligand 13 gene DOID:289 endometriosis ISO RGD:1342514 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30579999 11848958 CXCL13 C-X-C motif chemokine ligand 13 gene DOID:630 genetic disease ISO RGD:1342514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848958 CXCL13 C-X-C motif chemokine ligand 13 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1342514 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11848958 CXCL13 C-X-C motif chemokine ligand 13 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342514 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11848958 CXCL13 C-X-C motif chemokine ligand 13 gene DOID:9002801 Recurrence ISO RGD:1342514 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22607768 11848966 MYADML2 myeloid associated differentiation marker like 2 gene DOID:630 genetic disease ISO RGD:2303467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848971 MYLIP myosin regulatory light chain interacting protein gene DOID:289 endometriosis ISO RGD:1313988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11848971 MYLIP myosin regulatory light chain interacting protein gene DOID:630 genetic disease ISO RGD:1313988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848983 ITM2A integral membrane protein 2A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11848983 ITM2A integral membrane protein 2A gene DOID:0080600 COVID-19 ISO RGD:1354301 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11848983 ITM2A integral membrane protein 2A gene DOID:12849 autistic disorder ISO RGD:1354301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11848983 ITM2A integral membrane protein 2A gene DOID:630 genetic disease ISO RGD:1354301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11848996 DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1315195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11848996 DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1315195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 11848996 DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1315195 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868 11848996 DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 gene DOID:1682 congenital heart disease ISO RGD:1315195 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 11848996 DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 gene DOID:1826 epilepsy ISO RGD:1315195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11848996 DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1315195 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11848996 DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1315195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 11848996 DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 gene DOID:630 genetic disease ISO RGD:1315195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849029 PGLYRP3 peptidoglycan recognition protein 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1312063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11849029 PGLYRP3 peptidoglycan recognition protein 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1312063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11849029 PGLYRP3 peptidoglycan recognition protein 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1312063 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11849029 PGLYRP3 peptidoglycan recognition protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1312063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11849029 PGLYRP3 peptidoglycan recognition protein 3 gene DOID:5812 MHC class II deficiency ISO RGD:1312063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11849029 PGLYRP3 peptidoglycan recognition protein 3 gene DOID:630 genetic disease ISO RGD:1312063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849029 PGLYRP3 peptidoglycan recognition protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11849040 ZNF45 zinc finger protein 45 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1354120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 11849040 ZNF45 zinc finger protein 45 gene DOID:5419 schizophrenia ISO RGD:1354120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11849040 ZNF45 zinc finger protein 45 gene DOID:630 genetic disease ISO RGD:1354120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849075 ZNF212 zinc finger protein 212 gene DOID:630 genetic disease ISO RGD:1317263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849094 PRL prolactin gene DOID:0060001 withdrawal disorder ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9037573 11849094 PRL prolactin gene DOID:0060043 sexual health disorder ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829128|PMID:9334596 11849094 PRL prolactin gene DOID:0080855 Parkinsonism ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:240179 11849094 PRL prolactin gene DOID:10762 portal hypertension ISO RGD:3403 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:17119344|REF_RGD_ID:1642556 11849094 PRL prolactin gene DOID:11132 prostatic hypertrophy ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2208075 11849094 PRL prolactin gene DOID:12698 gynecomastia ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7878608|PMID:9334596 11849094 PRL prolactin gene DOID:12700 hyperprolactinemia ISO RGD:3403 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17303669|REF_RGD_ID:1642575 11849094 PRL prolactin gene DOID:12700 hyperprolactinemia ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17303669|PMID:2880862|PMID:2948424|PMID:4001434 11849094 PRL prolactin gene DOID:12849 autistic disorder ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18207134 11849094 PRL prolactin gene DOID:13938 amenorrhea ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6777091 11849094 PRL prolactin gene DOID:1591 renovascular hypertension ISO RGD:3403 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17316702|REF_RGD_ID:1642574 11849094 PRL prolactin gene DOID:1875 impotence ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829128|PMID:387166|PMID:4001434|PMID:7878608|PMID:8845563 11849094 PRL prolactin gene DOID:1876 sexual dysfunction ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10084644|PMID:15677431 11849094 PRL prolactin gene DOID:1924 hypogonadism ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829128 11849094 PRL prolactin gene DOID:2355 anemia ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10340396 11849094 PRL prolactin gene DOID:2696 Leydig cell tumor ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:4092719 11849094 PRL prolactin gene DOID:289 endometriosis ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11925390 11849094 PRL prolactin gene DOID:2945 severe acute respiratory syndrome ISO RGD:736187 D RGD:9068941 20200609 RGD protein:increased expression:adenohypophysis (human) PMID:20651845|REF_RGD_ID:28711759 11849094 PRL prolactin gene DOID:299 adenocarcinoma ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6280079 11849094 PRL prolactin gene DOID:3407 carotid artery disease susceptibility ISO RGD:736187 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17626900|REF_RGD_ID:1642555 11849094 PRL prolactin gene DOID:5394 prolactinoma ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1407345|PMID:3776530|PMID:718334|PMID:9617019 11849094 PRL prolactin gene DOID:591 phobic disorder ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2554359 11849094 PRL prolactin gene DOID:6000 congestive heart failure ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18926768 11849094 PRL prolactin gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2042694 11849094 PRL prolactin gene DOID:630 genetic disease ISO RGD:736187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849094 PRL prolactin gene DOID:657 adenoma ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12058109|PMID:2274009 11849094 PRL prolactin gene DOID:679 basal ganglia disease ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7214106 11849094 PRL prolactin gene DOID:684 hepatocellular carcinoma onset ISO RGD:736187 D RGD:9068941 20210528 RGD protein:increased expression:serum (human) PMID:22392353|REF_RGD_ID:125097525 11849094 PRL prolactin gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942|PMID:6280079 11849094 PRL prolactin gene DOID:9000972 Fever ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 11849094 PRL prolactin gene DOID:9001791 Puerperal Disorders ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18926768 11849094 PRL prolactin gene DOID:9002090 Galactorrhea ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20083845 11849094 PRL prolactin gene DOID:9002170 Experimental Neoplasms treatment ISO RGD:3403 D RGD:9068941 20220519 RGD PMID:26983879|REF_RGD_ID:152177690 11849094 PRL prolactin gene DOID:9002234 Pituitary Neoplasms ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:2274009|PMID:3498743|PMID:6156259 11849094 PRL prolactin gene DOID:9003002 Fetal Resorption ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3816235 11849094 PRL prolactin gene DOID:9003805 Catalepsy ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7197982 11849094 PRL prolactin gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11849094 PRL prolactin gene DOID:9005600 Infarction ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:718334 11849094 PRL prolactin gene DOID:9005632 Cocaine-Related Disorders ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15064918 11849094 PRL prolactin gene DOID:9006024 Hypotension ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720|PMID:71628 11849094 PRL prolactin gene DOID:9006646 Metabolic Syndrome ISO RGD:736187 D RGD:9068941 20200609 RGD PMID:16303834|REF_RGD_ID:1642558 11849094 PRL prolactin gene DOID:9007001 Bradycardia ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 11849094 PRL prolactin gene DOID:9007456 Female Infertility ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19531635 11849094 PRL prolactin gene DOID:9007692 Insulin Resistance ISO RGD:736187 D RGD:9068941 20200609 RGD associated with Hyperprolactinemia PMID:3888755|REF_RGD_ID:1642560 11849094 PRL prolactin gene DOID:9008023 Memory Disorders ISO RGD:736187 D RGD:9068941 20230518 CTD CTD Direct Evidence: therapeutic PMID:36100143 11849094 PRL prolactin gene DOID:9008297 Motor Disorders ISO RGD:736187 D RGD:9068941 20230518 CTD CTD Direct Evidence: therapeutic PMID:36100143 11849094 PRL prolactin gene DOID:9008614 Cardiovascular Pregnancy Complications ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18926768 11849094 PRL prolactin gene DOID:9074 systemic lupus erythematosus ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14870917 11849094 PRL prolactin gene DOID:9406 hypopituitarism ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1304515 11849094 PRL prolactin gene DOID:9970 obesity ISO RGD:736187 D RGD:9068941 20200609 RGD PMID:8388614|REF_RGD_ID:1642559 11849094 PRL prolactin gene DOID:9993 hypoglycemia ISO RGD:736187 D RGD:9068941 20200609 RGD associated with Hypertension PMID:16617309|REF_RGD_ID:1642557 11849094 Prl prolactin gene DOID:5394 prolactinoma ISO RGD:3403 D RGD:9068941 20200609 RGD DNA:mutation PMID:17260475|REF_RGD_ID:1642576 11849104 ZNF770 zinc finger protein 770 gene DOID:2717 Bloom syndrome ISO RGD:1606270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11849104 ZNF770 zinc finger protein 770 gene DOID:630 genetic disease ISO RGD:1606270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849104 ZNF770 zinc finger protein 770 gene DOID:9256 colorectal cancer ISO RGD:1606270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11849115 ZBTB26 zinc finger and BTB domain containing 26 gene DOID:630 genetic disease ISO RGD:1318405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849124 ETFB electron transfer flavoprotein subunit beta gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1347524 D RGD:7240710 20180130 OMIM 11849124 ETFB electron transfer flavoprotein subunit beta gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1347524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glutaric acidemia IIb | ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:12815589|PMID:16199547|PMID:16510302|PMID:17576681|PMID:18289905|PMID:19763152|PMID:20307669|PMID:22406018|PMID:22588007|PMID:23785301|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30626930|PMID:31418342|PMID:31589614|PMID:7912128|PMID:9350306|PMID:9536098 11849124 ETFB electron transfer flavoprotein subunit beta gene DOID:630 genetic disease ISO RGD:1347524 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11849124 ETFB electron transfer flavoprotein subunit beta gene DOID:784 chronic kidney disease ISO RGD:1347524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 11849133 PGGHG protein-glucosylgalactosylhydroxylysine glucosidase gene DOID:0110344 osteogenesis imperfecta type 5 ISO RGD:1604792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 5 PMID:22863190|PMID:22863195|PMID:23977282|PMID:25251575|PMID:25741868|PMID:28492532|PMID:31099171|PMID:31159867|PMID:32383316 11849133 PGGHG protein-glucosylgalactosylhydroxylysine glucosidase gene DOID:0111969 immunodeficiency 39 ISO RGD:1604792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11849133 PGGHG protein-glucosylgalactosylhydroxylysine glucosidase gene DOID:12347 osteogenesis imperfecta ISO RGD:1604792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:22863190|PMID:22863195|PMID:23977282|PMID:25251575|PMID:25741868|PMID:28492532|PMID:31099171|PMID:31159867|PMID:32383316 11849133 PGGHG protein-glucosylgalactosylhydroxylysine glucosidase gene DOID:630 genetic disease ISO RGD:1604792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849133 PGGHG protein-glucosylgalactosylhydroxylysine glucosidase gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:1604792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Postmenopausal osteoporosis PMID:22863190|PMID:22863195|PMID:23977282|PMID:25251575|PMID:25741868|PMID:28492532|PMID:31099171|PMID:31159867|PMID:32383316 11849150 ANKRD45 ankyrin repeat domain 45 gene DOID:1540 parathyroid carcinoma ISO RGD:1606657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11849150 ANKRD45 ankyrin repeat domain 45 gene DOID:3755 antithrombin III deficiency ISO RGD:1606657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 11849150 ANKRD45 ankyrin repeat domain 45 gene DOID:630 genetic disease ISO RGD:1606657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849150 ANKRD45 ankyrin repeat domain 45 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1606657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 11849150 ANKRD45 ankyrin repeat domain 45 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1606657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 11849150 ANKRD45 ankyrin repeat domain 45 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11849163 KITLG KIT ligand gene DOID:0050777 Joubert syndrome ISO RGD:737118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:19764032|PMID:23954617|PMID:27821535|PMID:28492532 11849163 KITLG KIT ligand gene DOID:0110590 autosomal dominant nonsyndromic deafness 69 ISO RGD:737118 D RGD:7240710 20180130 OMIM 11849163 KITLG KIT ligand gene DOID:0110590 autosomal dominant nonsyndromic deafness 69 ISO RGD:737118 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 69 | ClinVar Annotator: match by term: Deafness, autosomal dominant 69, unilateral or asymmetric PMID:25741868|PMID:26522471 11849163 KITLG KIT ligand gene DOID:0111373 familial progressive hyperpigmentation with or without hypopigmentation ISO RGD:737118 D RGD:7240710 20180130 OMIM 11849163 KITLG KIT ligand gene DOID:0111373 familial progressive hyperpigmentation with or without hypopigmentation ISO RGD:737118 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperpigmentation with or without hypopigmentation, familial progressive PMID:15040480|PMID:15551335|PMID:19375057|PMID:21368769|PMID:24033266|PMID:25741868|PMID:28492532 11849163 KITLG KIT ligand gene DOID:1749 squamous cell carcinoma ISO RGD:12410173 D RGD:9068941 20230427 OMIA Squamous cell carcinoma of the digit PMID:1399782|PMID:16231717|PMID:17609360|PMID:23555311|PMID:24936030|PMID:26699508|PMID:2800263|PMID:36851392|PMID:36851451|PMID:6354679|PMID:6731733|PMID:7657570 11849163 KITLG KIT ligand gene DOID:305 carcinoma ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11849163 KITLG KIT ligand gene DOID:3587 pancreatic ductal carcinoma ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24979617 11849163 KITLG KIT ligand gene DOID:3663 cutaneous mastocytosis ISO RGD:737119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20559008 11849163 KITLG KIT ligand gene DOID:630 genetic disease ISO RGD:737118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849163 KITLG KIT ligand gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11849163 KITLG KIT ligand gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19483681|PMID:19483682 11849163 KITLG KIT ligand gene DOID:9000750 Waardenburg Syndrome Type 2F ISO RGD:737118 D RGD:7240710 20220720 OMIM 11849163 KITLG KIT ligand gene DOID:9000750 Waardenburg Syndrome Type 2F ISO RGD:737118 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome, type 2F PMID:28504826|PMID:35543077 11849163 KITLG KIT ligand gene DOID:9001472 Nasal Polyps ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15813808 11849163 KITLG KIT ligand gene DOID:9001581 Constipation ISO RGD:3086 D RGD:9068941 20220505 RGD mRNA, protein:decreased expression:colon PMID:33792838|REF_RGD_ID:152025536 11849163 KITLG KIT ligand gene DOID:9002566 Gastric Reperfusion Injury ISO RGD:3086 D RGD:9068941 20200609 RGD mRNA:decreased expression:stomach: PMID:20040059|REF_RGD_ID:12911222 11849163 KITLG KIT ligand gene DOID:9004207 Testicular Neoplasms ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19483681|PMID:19483682 11849163 KITLG KIT ligand gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11849163 KITLG KIT ligand gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1720698 11849163 KITLG KIT ligand gene DOID:9007102 Myocardial Ischemia ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11849163 KITLG KIT ligand gene DOID:9007207 Skin/Hair/Eye Pigmentation, Variation In, 7 ISO RGD:737118 D RGD:7240710 20221207 OMIM 11849163 KITLG KIT ligand gene DOID:9007207 Skin/Hair/Eye Pigmentation, Variation In, 7 ISO RGD:737118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN PMID:17952075|PMID:18083106|PMID:24880339 11849163 KITLG KIT ligand gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737119 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12594235 11849163 KITLG KIT ligand gene DOID:9970 obesity ISO RGD:737119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23954404 11849175 ABR ABR activator of RhoGEF and GTPase gene DOID:0060432 chromosome 17p13.3 duplication syndrome ISO RGD:1314808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome PMID:21681106 11849175 ABR ABR activator of RhoGEF and GTPase gene DOID:630 genetic disease ISO RGD:1314808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849175 ABR ABR activator of RhoGEF and GTPase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 11849216 LARP4B La ribonucleoprotein 4B gene DOID:2661 myoepithelioma ISO RGD:1321780 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11849216 LARP4B La ribonucleoprotein 4B gene DOID:630 genetic disease ISO RGD:1321780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849216 LARP4B La ribonucleoprotein 4B gene DOID:9005539 Familial Prostate Cancer ISO RGD:1321780 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11849249 LRRC3C leucine rich repeat containing 3C gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:5131999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 11849249 LRRC3C leucine rich repeat containing 3C gene DOID:630 genetic disease ISO RGD:5131999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849254 IFT46 intraflagellar transport 46 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1604332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11849254 IFT46 intraflagellar transport 46 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1604332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11849254 IFT46 intraflagellar transport 46 gene DOID:0080690 RASopathy ISO RGD:1604332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11849254 IFT46 intraflagellar transport 46 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1604332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 11849254 IFT46 intraflagellar transport 46 gene DOID:0110651 long QT syndrome 10 ISO RGD:1604332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11849254 IFT46 intraflagellar transport 46 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1604332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11849254 IFT46 intraflagellar transport 46 gene DOID:0111971 immunodeficiency 18 ISO RGD:1604332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11849254 IFT46 intraflagellar transport 46 gene DOID:0111972 immunodeficiency 19 ISO RGD:1604332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11849254 IFT46 intraflagellar transport 46 gene DOID:0111973 immunodeficiency 17 ISO RGD:1604332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11849254 IFT46 intraflagellar transport 46 gene DOID:630 genetic disease ISO RGD:1604332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849254 IFT46 intraflagellar transport 46 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11849254 IFT46 intraflagellar transport 46 gene DOID:9007661 Dwarfism ISO RGD:1604332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11849277 DSP desmoplakin gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 11849277 DSP desmoplakin gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1314043 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Right ventricular cardiomyopathy PMID:10395892|PMID:10594734|PMID:11063735|PMID:15941723|PMID:16199547|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19358943|PMID:19558499|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20716751|PMID:20738328|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22240500|PMID:22555271|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23514727|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25157032|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25525159|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25691752|PMID:25693453|PMID:25741868|PMID:26230511|PMID:26332594|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26850880|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27153395|PMID:27435932|PMID:27532257|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28254189|PMID:28416588|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:28798025|PMID:29062697|PMID:29253866|PMID:29892087|PMID:29915098|PMID:30354334|PMID:30398466|PMID:30775854|PMID:30847666|PMID:31110529|PMID:31264976|PMID:31317183|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31727422|PMID:31737537|PMID:31785789|PMID:32277046|PMID:32372669|PMID:33087929|PMID:33313835|PMID:33652588|PMID:34290054|PMID:34352074|PMID:35083019|PMID:9536098 11849277 DSP desmoplakin gene DOID:0050451 Brugada syndrome ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20031617|PMID:20152563|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 11849277 DSP desmoplakin gene DOID:0050700 cardiomyopathy ISO RGD:1314043 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10395892|PMID:11063735|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16061754|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22555271|PMID:22949226|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27153395|PMID:27329731|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28611029|PMID:28759816|PMID:28798025|PMID:28912206|PMID:29253866|PMID:29420653|PMID:29511324|PMID:29750433|PMID:29759408|PMID:29802319|PMID:30012837|PMID:30165862|PMID:30354334|PMID:30382575|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30975432|PMID:31118017|PMID:31264976|PMID:31319917|PMID:31333075|PMID:31402444|PMID:31568572|PMID:31737537|PMID:31983221|PMID:33232181|PMID:34213952|PMID:9536098 11849277 DSP desmoplakin gene DOID:0050700 cardiomyopathy ISO RGD:1314043 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10395892|PMID:11063735|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22555271|PMID:22949226|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27153395|PMID:27329731|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28442525|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28611029|PMID:28759816|PMID:28798025|PMID:28912206|PMID:29253866|PMID:29420653|PMID:29511324|PMID:29750433|PMID:29759408|PMID:29802319|PMID:30012837|PMID:30165862|PMID:30354334|PMID:30382575|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31118017|PMID:31264976|PMID:31333075|PMID:31402444|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32372669|PMID:32746448|PMID:32880476|PMID:32942234|PMID:33232181|PMID:34213952|PMID:9536098 11849277 DSP desmoplakin gene DOID:0050700 cardiomyopathy ISO RGD:1314043 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome PMID:10395892|PMID:11063735|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22555271|PMID:22949226|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27153395|PMID:27329731|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28442525|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28611029|PMID:28759816|PMID:28798025|PMID:28912206|PMID:29253866|PMID:29420653|PMID:29511324|PMID:29750433|PMID:29759408|PMID:29802319|PMID:30012837|PMID:30165862|PMID:30206291|PMID:30354334|PMID:30382575|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31118017|PMID:31264976|PMID:31333075|PMID:31402444|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32372669|PMID:32746448|PMID:32880476|PMID:32942234|PMID:33232181|PMID:34213952|PMID:9536098 11849277 DSP desmoplakin gene DOID:0050700 cardiomyopathy ISO RGD:1314043 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10395892|PMID:11063735|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22555271|PMID:22949226|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27153395|PMID:27329731|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28442525|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28611029|PMID:28759816|PMID:28798025|PMID:28912206|PMID:29178656|PMID:29253866|PMID:29420653|PMID:29511324|PMID:29607617|PMID:29750433|PMID:29759408|PMID:29802319|PMID:30012837|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31118017|PMID:31264976|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32746448|PMID:32880476|PMID:32942234|PMID:33232181|PMID:34137518|PMID:34213952|PMID:34290054|PMID:9536098 11849277 DSP desmoplakin gene DOID:0050700 cardiomyopathy ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10395892|PMID:11063735|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22949226|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25856671|PMID:26073755|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29420653|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29915098|PMID:30012837|PMID:30086531|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31737537|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32600061|PMID:32746448|PMID:32879264|PMID:32880476|PMID:32942234|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33652588|PMID:33857019|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34317553|PMID:35083019|PMID:35087879|PMID:9536098 11849277 DSP desmoplakin gene DOID:0050700 cardiomyopathy ISO RGD:1314043 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10395892|PMID:11063735|PMID:11841538|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21270786|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25856671|PMID:25974703|PMID:26073755|PMID:26084686|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29420653|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29878302|PMID:29915098|PMID:30012837|PMID:30086531|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31737537|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32600061|PMID:32879264|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33652588|PMID:33762593|PMID:33857019|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34317553|PMID:35083019|PMID:35087879|PMID:9536098 11849277 DSP desmoplakin gene DOID:0050700 cardiomyopathy ISO RGD:1314043 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10395892|PMID:11063735|PMID:11841538|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25856671|PMID:26073755|PMID:26084686|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29878302|PMID:29915098|PMID:30012837|PMID:30086531|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31638835|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32600061|PMID:32879264|PMID:32880476|PMID:32942234|PMID:33082984|PMID:33087929|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33652588|PMID:33762593|PMID:33857019|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34317553|PMID:34486814|PMID:35083019|PMID:35087879|PMID:35581137|PMID:9536098 11849277 DSP desmoplakin gene DOID:0060319 cardiac arrest ISO RGD:1314043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:20716751|PMID:21606390|PMID:22240500|PMID:24503780|PMID:25227139|PMID:25525159|PMID:25741868|PMID:28492532|PMID:33313835 11849277 DSP desmoplakin gene DOID:0060480 left ventricular noncompaction ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:25741868|PMID:28492532 11849277 DSP desmoplakin gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:28492532|PMID:33552729 11849277 DSP desmoplakin gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532|PMID:33552729 11849277 DSP desmoplakin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314043 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:18632414|PMID:19924139|PMID:20738328|PMID:23381804|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25225338|PMID:25351510|PMID:25693453|PMID:25741868|PMID:26585738|PMID:28492532|PMID:30354334|PMID:30847666|PMID:31264976|PMID:31402444 11849277 DSP desmoplakin gene DOID:0081109 keratosis palmoplantaris striata 2 ISO RGD:1314043 D RGD:7240710 20180130 OMIM 11849277 DSP desmoplakin gene DOID:0081109 keratosis palmoplantaris striata 2 ISO RGD:1314043 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Keratosis palmoplantaris striata 2 | ClinVar Annotator: match by term: Keratosis palmoplantaris striata II | ClinVar Annotator: match by term: STRIATE PALMOPLANTAR KERATODERMA II PMID:10594734|PMID:15941723|PMID:16175511|PMID:16199547|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:19597050|PMID:19863551|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20716751|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22454510|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23651034|PMID:23671136|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25637381|PMID:25691752|PMID:25741868|PMID:25819062|PMID:25825460|PMID:25979592|PMID:26138720|PMID:26187847|PMID:26220970|PMID:26272908|PMID:26332594|PMID:26399581|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26743238|PMID:26833927|PMID:27000522|PMID:27097650|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27435932|PMID:27532257|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28254189|PMID:28255936|PMID:28416588|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28790152|PMID:28798025|PMID:29095814|PMID:29192238|PMID:29247119|PMID:29607617|PMID:29633331|PMID:29802319|PMID:29915098|PMID:30165862|PMID:30276209|PMID:30398466|PMID:30731207|PMID:30775854|PMID:30847666|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31378211|PMID:31402444|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32600061|PMID:32746448|PMID:32879264|PMID:32880476|PMID:32931854|PMID:33082984|PMID:33232181|PMID:33500567|PMID:33652588|PMID:34290054|PMID:34317553|PMID:34352074|PMID:35087879|PMID:9536098|PMID:9887343 11849277 DSP desmoplakin gene DOID:0090128 Carvajal syndrome ISO RGD:1314043 D RGD:7240710 20180130 OMIM 11849277 DSP desmoplakin gene DOID:0090128 Carvajal syndrome ISO RGD:1314043 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Carvajal syndrome | ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma | ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy | ClinVar Annotator: match by term: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair PMID:10594734|PMID:11063735|PMID:11278896|PMID:11841538|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16061754|PMID:16175511|PMID:16199547|PMID:16467215|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19558499|PMID:19597050|PMID:19763152|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20307669|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20613772|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:20940358|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22406018|PMID:22454510|PMID:22555271|PMID:22795705|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24784157|PMID:24825141|PMID:24938629|PMID:24967631|PMID:24981977|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25403600|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25825460|PMID:25856671|PMID:25979592|PMID:26073755|PMID:26084686|PMID:26138720|PMID:26148547|PMID:26187847|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26303123|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26735901|PMID:26743238|PMID:26833927|PMID:26850880|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27353043|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27698334|PMID:27707468|PMID:27831900|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28152038|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28600387|PMID:28611029|PMID:28750076|PMID:28759816|PMID:28767663|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29062697|PMID:29095814|PMID:29178656|PMID:29181379|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29517769|PMID:29590070|PMID:29606362|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29878302|PMID:29892087|PMID:29915097|PMID:29915098|PMID:29956481|PMID:29997227|PMID:30012837|PMID:30086531|PMID:30133754|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30345701|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30453078|PMID:30615648|PMID:30670673|PMID:30700137|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30919684|PMID:30944905|PMID:30975432|PMID:30993396|PMID:31110529|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31727422|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32005173|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32546831|PMID:32593191|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32808748|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:32969603|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33684294|PMID:33762593|PMID:33857019|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34317553|PMID:34352074|PMID:34486814|PMID:35083019|PMID:35087879|PMID:35581137|PMID:8769422 11849277 DSP desmoplakin gene DOID:0090128 Carvajal syndrome ISO RGD:1314043 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Carvajal syndrome | ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma | ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy | ClinVar Annotator: match by term: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair PMID:9229116|PMID:9536098|PMID:9887343 11849277 DSP desmoplakin gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:21723241|PMID:24070718|PMID:25741868|PMID:26138720|PMID:28492532 11849277 DSP desmoplakin gene DOID:0110076 arrhythmogenic right ventricular dysplasia 8 ISO RGD:1314043 D RGD:7240710 20180130 OMIM 11849277 DSP desmoplakin gene DOID:0110076 arrhythmogenic right ventricular dysplasia 8 ISO RGD:1314043 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:10395892|PMID:10594734|PMID:11063735|PMID:11278896|PMID:11841538|PMID:12373648|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16061754|PMID:16175511|PMID:16199547|PMID:16467215|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19558499|PMID:19597050|PMID:19763152|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20307669|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20613772|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:20940358|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22406018|PMID:22454510|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24784157|PMID:24825141|PMID:24938629|PMID:24967631|PMID:24981977|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25403600|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25741904|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25825460|PMID:25856671|PMID:25979592|PMID:26073755|PMID:26084686|PMID:26138720|PMID:26148547|PMID:26187847|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26303123|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26735901|PMID:26743238|PMID:26833927|PMID:26850880|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27353043|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27698334|PMID:27707468|PMID:27831900|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28152038|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28600387|PMID:28611029|PMID:28750076|PMID:28759816|PMID:28767663|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29062697|PMID:29095814|PMID:29178656|PMID:29181379|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29517769|PMID:29590070|PMID:29606362|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29878302|PMID:29892087|PMID:29915097|PMID:29915098|PMID:29956481|PMID:29997227|PMID:30012837|PMID:30086531|PMID:30133754|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30286183|PMID:30345701|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30453078|PMID:30615648|PMID:30670673|PMID:30700137|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30919684|PMID:30944905|PMID:30975432|PMID:30993396|PMID:31028357|PMID:31110529|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31727422|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32005173|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32546831|PMID:32593191|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32808748|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:32969603|PMID:33082984|PMID:33087929|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33684294|PMID:33762593|PMID:33857019|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34317553|PMID:34352074 11849277 DSP desmoplakin gene DOID:0110076 arrhythmogenic right ventricular dysplasia 8 ISO RGD:1314043 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:34486814|PMID:35083019|PMID:35087879|PMID:35581137|PMID:8769422|PMID:9229116|PMID:9536098|PMID:9887343 11849277 DSP desmoplakin gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1314043 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:25820315|PMID:28492532|PMID:30345701|PMID:30700137 11849277 DSP desmoplakin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:18632414|PMID:19924139|PMID:20738328|PMID:23381804|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25225338|PMID:25351510|PMID:25693453|PMID:25741868|PMID:26585738|PMID:28492532|PMID:30354334|PMID:31264976 11849277 DSP desmoplakin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314043 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:18632414|PMID:19924139|PMID:20738328|PMID:23381804|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25225338|PMID:25351510|PMID:25693453|PMID:25741868|PMID:26585738|PMID:28492532|PMID:30354334|PMID:31264976|PMID:31402444 11849277 DSP desmoplakin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314043 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:18632414|PMID:19924139|PMID:20738328|PMID:23381804|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25225338|PMID:25351510|PMID:25693453|PMID:25741868|PMID:26585738|PMID:28492532|PMID:30354334|PMID:30847666|PMID:31264976|PMID:31402444 11849277 DSP desmoplakin gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1314043 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation PMID:20716751|PMID:23292937|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24503780|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25741868|PMID:26084686|PMID:26265630|PMID:28166811|PMID:28492532|PMID:29633331|PMID:30615648|PMID:30775854 11849277 DSP desmoplakin gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1314043 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:20716751|PMID:23292937|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24503780|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25741868|PMID:26084686|PMID:26265630|PMID:28166811|PMID:28492532|PMID:29633331|PMID:30615648|PMID:30775854 11849277 DSP desmoplakin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:15941723|PMID:20152563|PMID:20716751|PMID:21606396|PMID:21636032|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24503780|PMID:25227139|PMID:25637381|PMID:25661095|PMID:25741868|PMID:26138720|PMID:26265630|PMID:27532257|PMID:28492532|PMID:30775854|PMID:32808748 11849277 DSP desmoplakin gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:25741868|PMID:28492532|PMID:29253866 11849277 DSP desmoplakin gene DOID:0110644 long QT syndrome 1 ISO RGD:1314043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:19095136|PMID:19279339|PMID:20716751|PMID:21606390|PMID:21606396|PMID:21723241|PMID:24070718|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25741868|PMID:25820315|PMID:28492532|PMID:28527814|PMID:30382575 11849277 DSP desmoplakin gene DOID:0111073 progressive familial heart block ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive familial heart block PMID:25741868 11849277 DSP desmoplakin gene DOID:10969 hemiplegia ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemiplegia PMID:21606396|PMID:23292937|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26230511|PMID:26656175|PMID:27153395|PMID:28492532 11849277 DSP desmoplakin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:18632414|PMID:19863551|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21859740|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24503780|PMID:25741868|PMID:28492532|PMID:29255176 11849277 DSP desmoplakin gene DOID:12930 dilated cardiomyopathy ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10594734|PMID:11063735|PMID:16061754|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26230511|PMID:26399581|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28166811|PMID:28416588|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28759816|PMID:30012837|PMID:30820396|PMID:30993396|PMID:31333075|PMID:31402444|PMID:31447099|PMID:31568572|PMID:9536098 11849277 DSP desmoplakin gene DOID:12930 dilated cardiomyopathy ISO RGD:1314043 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10594734|PMID:11063735|PMID:16061754|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26230511|PMID:26399581|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28166811|PMID:28416588|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28759816|PMID:30012837|PMID:30820396|PMID:30993396|PMID:31333075|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:9536098 11849277 DSP desmoplakin gene DOID:12930 dilated cardiomyopathy ISO RGD:1314043 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10594734|PMID:11063735|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26230511|PMID:26399581|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28759816|PMID:30012837|PMID:30820396|PMID:30993396|PMID:31333075|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31983221|PMID:32942234|PMID:9536098 11849277 DSP desmoplakin gene DOID:12930 dilated cardiomyopathy ISO RGD:1314043 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10594734|PMID:11063735|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26230511|PMID:26399581|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28759816|PMID:30012837|PMID:30398466|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31333075|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32277046|PMID:32942234|PMID:34137518|PMID:34290054|PMID:9536098 11849277 DSP desmoplakin gene DOID:12930 dilated cardiomyopathy ISO RGD:1314043 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10594734|PMID:11063735|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26084686|PMID:26230511|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28166811|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:29633331|PMID:29915098|PMID:30012837|PMID:30398466|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31110529|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32659924|PMID:33762593|PMID:34137518|PMID:34290054|PMID:34317553|PMID:9536098 11849277 DSP desmoplakin gene DOID:12930 dilated cardiomyopathy ISO RGD:1314043 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10594734|PMID:11063735|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26084686|PMID:26230511|PMID:26265630|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28166811|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:29633331|PMID:29915098|PMID:30012837|PMID:30398466|PMID:30615648|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31110529|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32659924|PMID:32942234|PMID:33087929|PMID:33762593|PMID:34137518|PMID:34290054|PMID:34317553|PMID:35581137|PMID:9536098 11849277 DSP desmoplakin gene DOID:2843 long QT syndrome ISO RGD:1314043 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:16467215|PMID:16774985|PMID:17576681|PMID:18382419|PMID:19863551|PMID:20716751|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21723241|PMID:21859740|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25227139|PMID:25741868|PMID:27097650|PMID:28074886|PMID:28416588|PMID:28492532|PMID:28759816|PMID:30993396|PMID:9536098 11849277 DSP desmoplakin gene DOID:2843 long QT syndrome ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16467215|PMID:16774985|PMID:17576681|PMID:18382419|PMID:19863551|PMID:20716751|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21723241|PMID:21859740|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25741868|PMID:27097650|PMID:28074886|PMID:28416588|PMID:28492532|PMID:28759816|PMID:30398466|PMID:30847666|PMID:30993396|PMID:31402444|PMID:31514951|PMID:31737537|PMID:32277046|PMID:32372669|PMID:34290054|PMID:9536098 11849277 DSP desmoplakin gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease 11849277 DSP desmoplakin gene DOID:3770 pulmonary fibrosis ISO RGD:1314043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28166215 11849277 DSP desmoplakin gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532 11849277 DSP desmoplakin gene DOID:397 restrictive cardiomyopathy ISO RGD:1314043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy | ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:11063735|PMID:16628197|PMID:21636032|PMID:24033266|PMID:25741868|PMID:26383259|PMID:26743238|PMID:28492532|PMID:31333075|PMID:31568572 11849277 DSP desmoplakin gene DOID:5805 subvalvular aortic stenosis ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Subvalvular aortic stenosis PMID:25741868|PMID:28492532 11849277 DSP desmoplakin gene DOID:630 genetic disease ISO RGD:1314043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532 11849277 DSP desmoplakin gene DOID:6364 migraine ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Migraine Disorders PMID:21606396|PMID:23292937|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26230511|PMID:26656175|PMID:27153395|PMID:28492532 11849277 DSP desmoplakin gene DOID:820 myocarditis ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Myocarditis PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28359509|PMID:28436997|PMID:28492532|PMID:32372669|PMID:32410525|PMID:34213952 11849277 DSP desmoplakin gene DOID:850 lung disease ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chronic lung disease PMID:25741868 11849277 DSP desmoplakin gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:16917092|PMID:20716751|PMID:24033266|PMID:24503780|PMID:25227139|PMID:25525159|PMID:25741868|PMID:27532257|PMID:28471438|PMID:28492532|PMID:28527814|PMID:31402444|PMID:31447099 11849277 DSP desmoplakin gene DOID:9000184 Ventricular Fibrillation ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:25741868|PMID:28492532 11849277 DSP desmoplakin gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:20129281|PMID:20152563|PMID:21606396|PMID:21636032|PMID:21723241|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24503780|PMID:25637381|PMID:25661095|PMID:25693453|PMID:25741868|PMID:28471438|PMID:28492532|PMID:30775854|PMID:31333075|PMID:31568572 11849277 DSP desmoplakin gene DOID:9000727 Syncope ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syncope PMID:25741868 11849277 DSP desmoplakin gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1314043 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 11849277 DSP desmoplakin gene DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic ISO RGD:1314043 D RGD:7240710 20180130 OMIM 11849277 DSP desmoplakin gene DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic ISO RGD:1314043 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:10395892|PMID:15210133|PMID:15941723|PMID:16175511|PMID:16199547|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20302578|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20613772|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24448499|PMID:24503780|PMID:24704780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25819062|PMID:25820315|PMID:25856671|PMID:25979592|PMID:26073755|PMID:26138720|PMID:26187847|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26743238|PMID:26833927|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28790152|PMID:28798025|PMID:29095814|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29915098|PMID:30086531|PMID:30165862|PMID:30276209|PMID:30354334|PMID:30398466|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30919684|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31264976|PMID:31333075|PMID:31378211|PMID:31402444|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32600061|PMID:32746448|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:33082984|PMID:33232181|PMID:33500567|PMID:33652588|PMID:33762593|PMID:33857019|PMID:34033898|PMID:34290054|PMID:34317553|PMID:34352074|PMID:35087879|PMID:9536098 11849277 DSP desmoplakin gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:20031617|PMID:20152563|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 11849277 DSP desmoplakin gene DOID:9003163 Heart Block ISO RGD:1314043 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 11849277 DSP desmoplakin gene DOID:9004026 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis ISO RGD:1314043 D RGD:7240710 20180130 OMIM 11849277 DSP desmoplakin gene DOID:9004026 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis ISO RGD:1314043 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis PMID:15941723|PMID:16175511|PMID:16199547|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19597050|PMID:19863551|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20716751|PMID:20864495|PMID:20940358|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22795705|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23651034|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24825141|PMID:24981977|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25819062|PMID:25979592|PMID:26138720|PMID:26187847|PMID:26220970|PMID:26272908|PMID:26332594|PMID:26399581|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26743238|PMID:26833927|PMID:27000522|PMID:27097650|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27532257|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28254189|PMID:28255936|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28790152|PMID:28798025|PMID:29095814|PMID:29192238|PMID:29247119|PMID:29607617|PMID:29633331|PMID:29802319|PMID:29915098|PMID:30165862|PMID:30276209|PMID:30398466|PMID:30731207|PMID:30775854|PMID:30847666|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31378211|PMID:31402444|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32600061|PMID:32746448|PMID:32879264|PMID:32880476|PMID:32931854|PMID:33082984|PMID:33232181|PMID:33500567|PMID:33652588|PMID:34290054|PMID:34317553|PMID:34352074|PMID:35087879|PMID:9536098 11849277 DSP desmoplakin gene DOID:9004416 Paroxysmal Ventricular Fibrillation ISO RGD:1314043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paroxysmal familial ventricular fibrillation PMID:28492532 11849277 DSP desmoplakin gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:24033266|PMID:25741868|PMID:28492532|PMID:28611029|PMID:29802319|PMID:30847666 11849277 DSP desmoplakin gene DOID:9005141 Ventricular Tachycardia ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:23396983|PMID:23861362|PMID:24033266|PMID:24125834|PMID:25741868|PMID:28492532|PMID:30847666|PMID:31638414|PMID:31983221 11849277 DSP desmoplakin gene DOID:9006397 Ectodermal Dysplasia-Skin Fragility Syndrome ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mcgrath syndrome PMID:18632414|PMID:21636032|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532 11849277 DSP desmoplakin gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11849277 DSP desmoplakin gene DOID:9007018 Skin Fragility-Woolly Hair Syndrome ISO RGD:1314043 D RGD:7240710 20180130 OMIM 11849277 DSP desmoplakin gene DOID:9007018 Skin Fragility-Woolly Hair Syndrome ISO RGD:1314043 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Skin fragility woolly hair syndrome PMID:10395892|PMID:11278896|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16175511|PMID:16199547|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24448499|PMID:24503780|PMID:24704780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25819062|PMID:25820315|PMID:25856671|PMID:25979592|PMID:26073755|PMID:26138720|PMID:26148547|PMID:26187847|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26743238|PMID:26833927|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28790152|PMID:28798025|PMID:29095814|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29915098|PMID:30086531|PMID:30133754|PMID:30165862|PMID:30276209|PMID:30354334|PMID:30398466|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31264976|PMID:31333075|PMID:31378211|PMID:31402444|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32600061|PMID:32746448|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:33082984|PMID:33232181|PMID:33500567|PMID:33652588|PMID:33762593|PMID:33857019|PMID:34033898|PMID:34290054|PMID:34317553|PMID:34352074|PMID:35087879|PMID:9229116|PMID:9536098 11849277 DSP desmoplakin gene DOID:9007820 Sudden Death ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden death | ClinVar Annotator: match by term: Sudden unexplained death PMID:20031617|PMID:20152563|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27332903|PMID:28492532|PMID:28611029|PMID:29802319|PMID:30847666 11849277 DSP desmoplakin gene DOID:9007925 Sudden Cardiac Death ISO RGD:1314043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20435227 11849277 DSP desmoplakin gene DOID:9008086 Developmental Disabilities ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741904|PMID:28527814|PMID:31028357 11849277 DSP desmoplakin gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:1314043 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:28492532 11849277 DSP desmoplakin gene DOID:9008195 Subvalvular Aortic Stenosis, Eisenberg Type ISO RGD:1314043 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Subvalvular aortic stenosis, Eisenberg type PMID:25741868|PMID:28492532 11849277 DSP desmoplakin gene DOID:9120 amyloidosis ISO RGD:1314043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyloidosis PMID:24033266|PMID:24825141|PMID:25741868|PMID:28492532|PMID:33232181 11849277 DSP desmoplakin gene DOID:9651 systolic heart failure ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systolic heart failure PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 11849310 USP6NL USP6 N-terminal like gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1323420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11849310 USP6NL USP6 N-terminal like gene DOID:1909 melanoma ISO RGD:1323420 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11849310 USP6NL USP6 N-terminal like gene DOID:630 genetic disease ISO RGD:1323420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849334 GATAD2B GATA zinc finger domain containing 2B gene DOID:0060041 autism spectrum disorder ISO RGD:1606527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11849334 GATAD2B GATA zinc finger domain containing 2B gene DOID:0060368 Parkinson's disease 2 ISO RGD:1606527 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 PMID:25741868|PMID:28492532 11849334 GATAD2B GATA zinc finger domain containing 2B gene DOID:0070048 GAND syndrome ISO RGD:1606527 D RGD:7240710 20180130 OMIM 11849334 GATAD2B GATA zinc finger domain containing 2B gene DOID:0070048 GAND syndrome ISO RGD:1606527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GAND SYNDROME | ClinVar Annotator: match by term: GATAD2B-Related Disorder PMID:21681106|PMID:23033978|PMID:25356899|PMID:25741868|PMID:27159321|PMID:28077840|PMID:28135719|PMID:28191890|PMID:28492532|PMID:30346093|PMID:31205050|PMID:31949314|PMID:32688057 11849334 GATAD2B GATA zinc finger domain containing 2B gene DOID:0111940 immunodeficiency 42 ISO RGD:1606527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11849334 GATAD2B GATA zinc finger domain containing 2B gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11849334 GATAD2B GATA zinc finger domain containing 2B gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11849334 GATAD2B GATA zinc finger domain containing 2B gene DOID:1059 intellectual disability ISO RGD:1606527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23033978|PMID:25356899|PMID:25741868|PMID:27159321|PMID:28492532|PMID:32688057 11849334 GATAD2B GATA zinc finger domain containing 2B gene DOID:1540 parathyroid carcinoma ISO RGD:1606527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11849334 GATAD2B GATA zinc finger domain containing 2B gene DOID:5812 MHC class II deficiency ISO RGD:1606527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11849334 GATAD2B GATA zinc finger domain containing 2B gene DOID:630 genetic disease ISO RGD:1606527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23033978|PMID:25741868|PMID:25954003|PMID:27618451|PMID:28077840|PMID:28135719|PMID:28191890|PMID:28490743|PMID:28492532|PMID:32688057 11849334 GATAD2B GATA zinc finger domain containing 2B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11849358 NPSR1 neuropeptide S receptor 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:1347629 D RGD:9068941 20200609 RGD PMID:17854592|REF_RGD_ID:4891931 11849358 NPSR1 neuropeptide S receptor 1 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:1347629 D RGD:9068941 20200609 RGD PMID:16938805|REF_RGD_ID:4891932 11849358 NPSR1 neuropeptide S receptor 1 gene DOID:2560 morphine dependence ISO RGD:1564154 D RGD:9068941 20200609 RGD PMID:23684726|REF_RGD_ID:9831198 11849358 NPSR1 neuropeptide S receptor 1 gene DOID:2841 asthma ISO RGD:1347629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 2 PMID:15073379 11849358 NPSR1 neuropeptide S receptor 1 gene DOID:2841 asthma susceptibility ISO RGD:1347629 D RGD:7240710 20190502 OMIM 11849358 NPSR1 neuropeptide S receptor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11849358 NPSR1 neuropeptide S receptor 1 gene DOID:535 sleep disorder ISO RGD:1558020 D RGD:9068941 20220825 MouseDO 11849358 NPSR1 neuropeptide S receptor 1 gene DOID:630 genetic disease ISO RGD:1347629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849358 NPSR1 neuropeptide S receptor 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1347629 D RGD:9068941 20200609 RGD PMID:20179762|REF_RGD_ID:4891930 11849358 NPSR1 neuropeptide S receptor 1 gene DOID:9000499 Alcoholic Intoxication ISO RGD:1564154 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:19860802|REF_RGD_ID:9831199 11849358 NPSR1 neuropeptide S receptor 1 gene DOID:9001109 Anorexia ISO RGD:1564154 D RGD:9068941 20200609 RGD PMID:19821837|REF_RGD_ID:9835045 11849358 NPSR1 neuropeptide S receptor 1 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1564154 D RGD:9068941 20200609 RGD PMID:24884567|REF_RGD_ID:9831205 11849358 NPSR1 neuropeptide S receptor 1 gene DOID:9005632 Cocaine-Related Disorders treatment ISO RGD:1564154 D RGD:9068941 20200609 RGD PMID:22982682|REF_RGD_ID:9831202 11849382 BBOF1 basal body orientation factor 1 gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1346239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 11849382 BBOF1 basal body orientation factor 1 gene DOID:1059 intellectual disability ISO RGD:1346239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11849382 BBOF1 basal body orientation factor 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1346239 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11849382 BBOF1 basal body orientation factor 1 gene DOID:630 genetic disease ISO RGD:1346239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11849382 BBOF1 basal body orientation factor 1 gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1346239 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:25741868|PMID:28492532 11849382 BBOF1 basal body orientation factor 1 gene DOID:9006567 Methylmalonate Semialdehyde Dehydrogenase Deficiency ISO RGD:1346239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonate semialdehyde dehydrogenase deficiency PMID:10947204|PMID:11446412|PMID:21863277|PMID:23835272|PMID:25741868|PMID:28492532|PMID:3117077|PMID:32151545|PMID:3939535 11849413 SYTL5 synaptotagmin like 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11849413 SYTL5 synaptotagmin like 5 gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:736279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked PMID:22929960|PMID:27701760|PMID:28492532 11849413 SYTL5 synaptotagmin like 5 gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:736279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 11849413 SYTL5 synaptotagmin like 5 gene DOID:12849 autistic disorder ISO RGD:736279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11849413 SYTL5 synaptotagmin like 5 gene DOID:630 genetic disease ISO RGD:736279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849413 SYTL5 synaptotagmin like 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11849413 SYTL5 synaptotagmin like 5 gene DOID:9007661 Dwarfism ISO RGD:736279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11849413 SYTL5 synaptotagmin like 5 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:736279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:10946359|PMID:11793468|PMID:16786505|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 11849413 SYTL5 synaptotagmin like 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:736279 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11849439 INSL6 insulin like 6 gene DOID:0060652 familial erythrocytosis 1 ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 11849439 INSL6 insulin like 6 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:737125 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 11849439 INSL6 insulin like 6 gene DOID:0070004 myeloid neoplasm ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myeloproliferative disorder PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17267906|PMID:17989398|PMID:18256599|PMID:18394554|PMID:18805579|PMID:19036091|PMID:19287384|PMID:19293426|PMID:19470474|PMID:20339092|PMID:20585391|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22368270|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:22955920|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 11849439 INSL6 insulin like 6 gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 11849439 INSL6 insulin like 6 gene DOID:11512 Budd-Chiari syndrome ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Budd-Chiari syndrome PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 11849439 INSL6 insulin like 6 gene DOID:3948 adrenocortical carcinoma ISO RGD:737125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 11849439 INSL6 insulin like 6 gene DOID:4971 myelofibrosis ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelofibrosis, somatic PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 11849439 INSL6 insulin like 6 gene DOID:5426 primary ovarian insufficiency ISO RGD:737125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary Ovarian Insufficiency PMID:25741868 11849439 INSL6 insulin like 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11849439 INSL6 insulin like 6 gene DOID:630 genetic disease ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11849439 INSL6 insulin like 6 gene DOID:8432 polycythemia ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 11849439 INSL6 insulin like 6 gene DOID:8552 chronic myeloid leukemia ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 11849439 INSL6 insulin like 6 gene DOID:8997 polycythemia vera ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polycythemia rubra vera PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 11849439 INSL6 insulin like 6 gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features ISO RGD:737125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features PMID:18805579|PMID:19470474|PMID:20585391|PMID:22368270|PMID:22955920 11849439 INSL6 insulin like 6 gene DOID:9002720 Splenomegaly ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Enlarged Spleen PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 11849439 INSL6 insulin like 6 gene DOID:9004276 Thrombocythemia 3 ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: THROMBOCYTOSIS 3 | ClinVar Annotator: match by term: Thrombocythemia 3 PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:30811597|PMID:32581362 11849439 INSL6 insulin like 6 gene DOID:9006101 Primary Ovarian Failure ISO RGD:737125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ovarian failure PMID:25741868 11849439 INSL6 insulin like 6 gene DOID:9119 acute myeloid leukemia ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 11849448 NIBAN3 niban apoptosis regulator 3 gene DOID:630 genetic disease ISO RGD:1604724 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849469 ADGRG2 adhesion G protein-coupled receptor G2 gene DOID:0060599 Nance-Horan syndrome ISO RGD:735317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11849469 ADGRG2 adhesion G protein-coupled receptor G2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11849469 ADGRG2 adhesion G protein-coupled receptor G2 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:735317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11849469 ADGRG2 adhesion G protein-coupled receptor G2 gene DOID:0111042 glycogen storage disease IXa ISO RGD:735317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11849469 ADGRG2 adhesion G protein-coupled receptor G2 gene DOID:0111862 congenital bilateral absence of vas deferens ISO RGD:735317 D RGD:9068941 20200619 CTD CTD Direct Evidence: marker/mechanism 11849469 ADGRG2 adhesion G protein-coupled receptor G2 gene DOID:0111863 X-linked congenital bilateral absence of vas deferens ISO RGD:735317 D RGD:7240710 20200619 OMIM 11849469 ADGRG2 adhesion G protein-coupled receptor G2 gene DOID:0111863 X-linked congenital bilateral absence of vas deferens ISO RGD:735317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vas deferens, congenital bilateral aplasia of, X-linked PMID:25741868|PMID:27476656 11849469 ADGRG2 adhesion G protein-coupled receptor G2 gene DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens ISO RGD:735317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation PMID:25741868|PMID:27476656 11849469 ADGRG2 adhesion G protein-coupled receptor G2 gene DOID:12849 autistic disorder ISO RGD:735317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11849469 ADGRG2 adhesion G protein-coupled receptor G2 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:735317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11849469 ADGRG2 adhesion G protein-coupled receptor G2 gene DOID:630 genetic disease ISO RGD:735317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849469 ADGRG2 adhesion G protein-coupled receptor G2 gene DOID:8398 osteoarthritis ISO RGD:735317 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 11849469 ADGRG2 adhesion G protein-coupled receptor G2 gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:735317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:17172462|PMID:20591708|PMID:21914562|PMID:22473288|PMID:28492532|PMID:9618178 11849469 ADGRG2 adhesion G protein-coupled receptor G2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11849512 PRDX2 peroxiredoxin 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:733019 D RGD:9068941 20220908 RGD protein:increased expression:saliva PMID:29199150|REF_RGD_ID:153350131 11849512 PRDX2 peroxiredoxin 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:733019 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11849512 PRDX2 peroxiredoxin 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:733019 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11849512 PRDX2 peroxiredoxin 2 gene DOID:0111254 glutaric acidemia I ISO RGD:733019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11849512 PRDX2 peroxiredoxin 2 gene DOID:10320 asbestosis ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22537621 11849512 PRDX2 peroxiredoxin 2 gene DOID:14250 Down syndrome ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11771762 11849512 PRDX2 peroxiredoxin 2 gene DOID:1909 melanoma ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 11849512 PRDX2 peroxiredoxin 2 gene DOID:305 carcinoma ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11849512 PRDX2 peroxiredoxin 2 gene DOID:3347 osteosarcoma ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23911960 11849512 PRDX2 peroxiredoxin 2 gene DOID:3413 alpha-mannosidosis ISO RGD:733019 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11849512 PRDX2 peroxiredoxin 2 gene DOID:630 genetic disease ISO RGD:733019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849512 PRDX2 peroxiredoxin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11849512 PRDX2 peroxiredoxin 2 gene DOID:8692 myeloid leukemia ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16932348 11849512 PRDX2 peroxiredoxin 2 gene DOID:9000058 Keloid ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 11849512 PRDX2 peroxiredoxin 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 11849512 PRDX2 peroxiredoxin 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11849512 PRDX2 peroxiredoxin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 11849512 PRDX2 peroxiredoxin 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23911960 11849512 PRDX2 peroxiredoxin 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11849512 PRDX2 peroxiredoxin 2 gene DOID:9256 colorectal cancer disease_progression ISO RGD:733019 D RGD:9068941 20220909 RGD PMID:23393224|REF_RGD_ID:153350137 11849522 KIAA1191 KIAA1191 ortholog gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1601743 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11849522 KIAA1191 KIAA1191 ortholog gene DOID:0112103 Sotos syndrome 1 ISO RGD:1601743 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11849522 KIAA1191 KIAA1191 ortholog gene DOID:630 genetic disease ISO RGD:1601743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849547 DRD3 dopamine receptor D3 gene DOID:0050425 restless legs syndrome ISO RGD:735750 D RGD:9068941 20220825 MouseDO OMIM:102300 | OMIM:610438 | OMIM:610439 | OMIM:611185 | OMIM:611242 | OMIM:612853 | OMIM:615197 11849547 DRD3 dopamine receptor D3 gene DOID:0080855 Parkinsonism ISO RGD:2521 D RGD:9068941 20200609 RGD PMID:12535962|REF_RGD_ID:1358605 11849547 DRD3 dopamine receptor D3 gene DOID:0111428 essential tremor 1 ISO RGD:1605735 D RGD:7240710 20180130 OMIM 11849547 DRD3 dopamine receptor D3 gene DOID:0111428 essential tremor 1 ISO RGD:1605735 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Tremor, hereditary essential, 1 PMID:1362221|PMID:16650084|PMID:16809426|PMID:17339592|PMID:25741868|PMID:28492532|PMID:8225313|PMID:8411064|PMID:9514583 11849547 DRD3 dopamine receptor D3 gene DOID:10652 Alzheimer's disease ISO RGD:1605735 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex, neuron PMID:17182012|REF_RGD_ID:5686412 11849547 DRD3 dopamine receptor D3 gene DOID:10763 hypertension ISO RGD:2521 D RGD:9068941 20200609 RGD PMID:11675403|REF_RGD_ID:1580882 11849547 DRD3 dopamine receptor D3 gene DOID:10763 hypertension ISO RGD:735750 D RGD:9068941 20200609 RGD PMID:9691085|REF_RGD_ID:734898 11849547 DRD3 dopamine receptor D3 gene DOID:10914 amnestic disorder ISO RGD:2521 D RGD:9068941 20200609 RGD PMID:15619116|REF_RGD_ID:7175071 11849547 DRD3 dopamine receptor D3 gene DOID:10937 impulse control disorder ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17332411|PMID:19940168|PMID:20671181 11849547 DRD3 dopamine receptor D3 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10523822 11849547 DRD3 dopamine receptor D3 gene DOID:11832 visual epilepsy ISO RGD:2521 D RGD:9068941 20200609 RGD mRNA, increased expression:accumbens nucleus PMID:11597777|REF_RGD_ID:5686415 11849547 DRD3 dopamine receptor D3 gene DOID:12399 pathological gambling ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10523822 11849547 DRD3 dopamine receptor D3 gene DOID:12849 autistic disorder ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19058789 11849547 DRD3 dopamine receptor D3 gene DOID:12858 Huntington's disease ISO RGD:68472 D RGD:9068941 20200609 RGD PMID:12111832|REF_RGD_ID:5686414 11849547 DRD3 dopamine receptor D3 gene DOID:14330 Parkinson's disease ISO RGD:1605735 D RGD:9068941 20200609 RGD protein:increased expression:blood, lymphocyte PMID:10495037|REF_RGD_ID:5686418 11849547 DRD3 dopamine receptor D3 gene DOID:14330 Parkinson's disease severity ISO RGD:1605735 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood, lymphocyte PMID:8618685|REF_RGD_ID:5686419 11849547 DRD3 dopamine receptor D3 gene DOID:1561 cognitive disorder ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15619116 11849547 DRD3 dopamine receptor D3 gene DOID:480 movement disease ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12535962 11849547 DRD3 dopamine receptor D3 gene DOID:4990 essential tremor ISO RGD:1605735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor, susceptibility to | ClinVar Annotator: match by term: Hereditary essential tremor PMID:1362221|PMID:16650084|PMID:16809426|PMID:17339592|PMID:8225313|PMID:8411064|PMID:9514583 11849547 DRD3 dopamine receptor D3 gene DOID:4990 essential tremor treatment ISO RGD:2521 D RGD:9068941 20200609 RGD PMID:26459182|REF_RGD_ID:13506957 11849547 DRD3 dopamine receptor D3 gene DOID:5419 schizophrenia ISO RGD:1605735 D RGD:7240710 20180130 OMIM 11849547 DRD3 dopamine receptor D3 gene DOID:5419 schizophrenia ISO RGD:1605735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia, susceptibility to PMID:1362221|PMID:16650084|PMID:16809426|PMID:17339592|PMID:8225313|PMID:8411064|PMID:9514583 11849547 DRD3 dopamine receptor D3 gene DOID:5419 schizophrenia no_association ISO RGD:1605735 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:BalI polymorphism, amino acid S9G, no association with allele frequency or zygosity PMID:8225313|REF_RGD_ID:1626358 11849547 DRD3 dopamine receptor D3 gene DOID:5419 schizophrenia susceptibility ISO RGD:1605735 D RGD:9068941 20230511 RGD DNA:polymorphism:CDS:BalI polymorphism, amino acid S9G,homozygosity for either allele associated with increased risk PMID:1362221|REF_RGD_ID:1626357 11849547 DRD3 dopamine receptor D3 gene DOID:630 genetic disease ISO RGD:1605735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849547 DRD3 dopamine receptor D3 gene DOID:670 amphetamine abuse ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19940168 11849547 DRD3 dopamine receptor D3 gene DOID:679 basal ganglia disease ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19506579 11849547 DRD3 dopamine receptor D3 gene DOID:9001312 Tardive Dyskinesia ISO RGD:1605735 D RGD:9068941 20200609 RGD associated with schizophrenia PMID:12960753|REF_RGD_ID:1581250 11849547 DRD3 dopamine receptor D3 gene DOID:9002211 Hyperalgesia ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20433900 11849547 DRD3 dopamine receptor D3 gene DOID:9002362 Hyperkinesis ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16026479 11849547 DRD3 dopamine receptor D3 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10523822|PMID:15100700|PMID:17332411|PMID:18566292|PMID:20494958 11849547 DRD3 dopamine receptor D3 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2521 D RGD:9068941 20200609 RGD PMID:25989500|REF_RGD_ID:13506961 11849547 DRD3 dopamine receptor D3 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20945430 11849547 DRD3 dopamine receptor D3 gene DOID:9008967 Brain Concussion ISO RGD:2521 D RGD:9068941 20200609 RGD PMID:26448536|REF_RGD_ID:13506960 11849547 DRD3 dopamine receptor D3 gene DOID:9976 heroin dependence ISO RGD:2521 D RGD:9068941 20200609 RGD PMID:28598964|REF_RGD_ID:13506959 11849566 WIPI2 WD repeat domain, phosphoinositide interacting 2 gene DOID:11372 megacolon ISO RGD:1606810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11849566 WIPI2 WD repeat domain, phosphoinositide interacting 2 gene DOID:630 genetic disease ISO RGD:1606810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849566 WIPI2 WD repeat domain, phosphoinositide interacting 2 gene DOID:9007433 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES ISO RGD:1606810 D RGD:7240710 20190918 OMIM 11849566 WIPI2 WD repeat domain, phosphoinositide interacting 2 gene DOID:9007433 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES ISO RGD:1606810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with short stature and variable skeletal anomalies PMID:25741868|PMID:30968111 11849596 ARHGAP28 Rho GTPase activating protein 28 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1347841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11849596 ARHGAP28 Rho GTPase activating protein 28 gene DOID:1059 intellectual disability ISO RGD:1347841 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11849596 ARHGAP28 Rho GTPase activating protein 28 gene DOID:289 endometriosis ISO RGD:1347841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11849596 ARHGAP28 Rho GTPase activating protein 28 gene DOID:630 genetic disease ISO RGD:1347841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849645 CCN4 cellular communication network factor 4 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:69487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:12872253|PMID:23996628|PMID:28492532 11849645 CCN4 cellular communication network factor 4 gene DOID:14264 benign neonatal seizures ISO RGD:69487 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:28492532|PMID:29383681|PMID:29852413 11849645 CCN4 cellular communication network factor 4 gene DOID:630 genetic disease ISO RGD:69487 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849645 CCN4 cellular communication network factor 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:69487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30723155 11849645 CCN4 cellular communication network factor 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69431 D RGD:9068941 20200609 RGD PMID:24600972|REF_RGD_ID:10003105 11849645 CCN4 cellular communication network factor 4 gene DOID:9004656 Airway Remodeling treatment ISO RGD:69431 D RGD:9068941 20200609 RGD associated with Asthma PMID:23845395|REF_RGD_ID:10003106 11849645 CCN4 cellular communication network factor 4 gene DOID:9007480 Hyperoxia treatment ISO RGD:69431 D RGD:9068941 20200609 RGD PMID:23481549|REF_RGD_ID:10003108 11849654 RNASE9 ribonuclease A family member 9 (inactive) gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1343484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 11849654 RNASE9 ribonuclease A family member 9 (inactive) gene DOID:630 genetic disease ISO RGD:1343484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849669 GAB1 GRB2 associated binding protein 1 gene DOID:0110484 autosomal recessive nonsyndromic deafness 26 ISO RGD:1322354 D RGD:7240710 20190315 OMIM 11849669 GAB1 GRB2 associated binding protein 1 gene DOID:0110484 autosomal recessive nonsyndromic deafness 26 ISO RGD:1322354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 26 PMID:11101839|PMID:25741868|PMID:29408807 11849669 GAB1 GRB2 associated binding protein 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1322354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment 11849669 GAB1 GRB2 associated binding protein 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1322354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11849669 GAB1 GRB2 associated binding protein 1 gene DOID:630 genetic disease ISO RGD:1322354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849669 GAB1 GRB2 associated binding protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322355 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation: : PMID:25617348|REF_RGD_ID:14995329 11849669 GAB1 GRB2 associated binding protein 1 gene DOID:9008114 Helicobacter Infections susceptibility ISO RGD:1322354 D RGD:9068941 20200925 RGD DNA:SNP:intron: PMID:17211494|REF_RGD_ID:39128202 11849692 KATNA1 katanin catalytic subunit A1 gene DOID:630 genetic disease ISO RGD:1353857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849713 PGRMC1 progesterone receptor membrane component 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11849713 PGRMC1 progesterone receptor membrane component 1 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:733484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 11849713 PGRMC1 progesterone receptor membrane component 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:736221 D RGD:9068941 20220825 MouseDO OMIM:613282 | OMIM:613387 11849713 PGRMC1 progesterone receptor membrane component 1 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:733484 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 11849713 PGRMC1 progesterone receptor membrane component 1 gene DOID:10652 Alzheimer's disease ISO RGD:733484 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25390692 11849713 PGRMC1 progesterone receptor membrane component 1 gene DOID:12849 autistic disorder ISO RGD:733484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11849713 PGRMC1 progesterone receptor membrane component 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome 11849713 PGRMC1 progesterone receptor membrane component 1 gene DOID:630 genetic disease ISO RGD:733484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849713 PGRMC1 progesterone receptor membrane component 1 gene DOID:83 cataract ISO RGD:733484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:33867527 11849713 PGRMC1 progesterone receptor membrane component 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733484 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 11849720 EPSTI1 epithelial stromal interaction 1 gene DOID:0080600 COVID-19 ISO RGD:1353297 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11849720 EPSTI1 epithelial stromal interaction 1 gene DOID:0080600 COVID-19 ISO RGD:1353297 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11849720 EPSTI1 epithelial stromal interaction 1 gene DOID:10283 prostate cancer ISO RGD:1353297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11849720 EPSTI1 epithelial stromal interaction 1 gene DOID:630 genetic disease ISO RGD:1353297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849721 SALL2 spalt like transcription factor 2 gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1345005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:11528500|PMID:23105016|PMID:28492532 11849721 SALL2 spalt like transcription factor 2 gene DOID:12270 coloboma ISO RGD:1345005 D RGD:7240710 20180130 OMIM 11849721 SALL2 spalt like transcription factor 2 gene DOID:12270 coloboma ISO RGD:1345005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coloboma, ocular, autosomal recessive PMID:24412933|PMID:25741868 11849721 SALL2 spalt like transcription factor 2 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1345005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 11849721 SALL2 spalt like transcription factor 2 gene DOID:630 genetic disease ISO RGD:1345005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11849721 SALL2 spalt like transcription factor 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1345005 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11849728 ADORA1 adenosine A1 receptor gene DOID:0050848 obstructive sleep apnea ISO RGD:2048 D RGD:9068941 20200609 RGD PMID:18787037|REF_RGD_ID:5129100 11849728 ADORA1 adenosine A1 receptor gene DOID:0060001 withdrawal disorder ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16226742 11849728 ADORA1 adenosine A1 receptor gene DOID:0060500 drug allergy ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19019667 11849728 ADORA1 adenosine A1 receptor gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:730817 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11849728 ADORA1 adenosine A1 receptor gene DOID:10763 hypertension ISO RGD:2048 D RGD:9068941 20200609 RGD PMID:8998253|REF_RGD_ID:1625366 11849728 ADORA1 adenosine A1 receptor gene DOID:10763 hypertension no_association ISO RGD:730817 D RGD:9068941 20200609 RGD PMID:15257174|REF_RGD_ID:1625367 11849728 ADORA1 adenosine A1 receptor gene DOID:10763 hypertension treatment ISO RGD:2048 D RGD:9068941 20200609 RGD associated with diabetes mellitus, experimental PMID:9597368|REF_RGD_ID:1625365 11849728 ADORA1 adenosine A1 receptor gene DOID:1540 parathyroid carcinoma ISO RGD:730817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11849728 ADORA1 adenosine A1 receptor gene DOID:224 transient cerebral ischemia ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23437309 11849728 ADORA1 adenosine A1 receptor gene DOID:2841 asthma ISO RGD:730817 D RGD:9068941 20200609 RGD DNA:SNPs: :1405C>T (human) PMID:19019667|REF_RGD_ID:4890386 11849728 ADORA1 adenosine A1 receptor gene DOID:2841 asthma ISO RGD:730817 D RGD:9068941 20200609 RGD protein:increased expression:bronchus PMID:17959644|REF_RGD_ID:5129097 11849728 ADORA1 adenosine A1 receptor gene DOID:2841 asthma ISO RGD:730818 D RGD:9068941 20200609 RGD PMID:20400685|REF_RGD_ID:4145444 11849728 ADORA1 adenosine A1 receptor gene DOID:326 ischemia ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18950269 11849728 ADORA1 adenosine A1 receptor gene DOID:3525 middle cerebral artery infarction ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23437309 11849728 ADORA1 adenosine A1 receptor gene DOID:3526 cerebral infarction ISO RGD:2048 D RGD:9068941 20200609 RGD PMID:17067559|REF_RGD_ID:1625229 11849728 ADORA1 adenosine A1 receptor gene DOID:552 pneumonia ISO RGD:730818 D RGD:9068941 20200609 RGD PMID:15630442|REF_RGD_ID:5129098 11849728 ADORA1 adenosine A1 receptor gene DOID:5844 myocardial infarction ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12160945 11849728 ADORA1 adenosine A1 receptor gene DOID:630 genetic disease ISO RGD:730817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849728 ADORA1 adenosine A1 receptor gene DOID:850 lung disease ISO RGD:2048 D RGD:9068941 20200609 RGD associated with Reperfusion Injury PMID:18307414|REF_RGD_ID:5129095 11849728 ADORA1 adenosine A1 receptor gene DOID:850 lung disease ISO RGD:730818 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:20729330|REF_RGD_ID:5129093 11849728 ADORA1 adenosine A1 receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:2048 D RGD:9068941 20200609 RGD PMID:18289533|PMID:20065990|REF_RGD_ID:5129094|REF_RGD_ID:5129096 11849728 ADORA1 adenosine A1 receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:2048 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:17853654|REF_RGD_ID:4890369 11849728 ADORA1 adenosine A1 receptor gene DOID:9000184 Ventricular Fibrillation ISO RGD:2048 D RGD:9068941 20200609 RGD PMID:20334814|REF_RGD_ID:2317910 11849728 ADORA1 adenosine A1 receptor gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19019667 11849728 ADORA1 adenosine A1 receptor gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18950269 11849728 ADORA1 adenosine A1 receptor gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092996 11849728 ADORA1 adenosine A1 receptor gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:2048 D RGD:9068941 20200609 RGD associated with Hypertrophy, Left Ventricular;protein:increased expression:left heart ventricle PMID:17211253|REF_RGD_ID:1625225 11849728 ADORA1 adenosine A1 receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:2048 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19552053|REF_RGD_ID:2313803 11849728 ADORA1 adenosine A1 receptor gene DOID:9002211 Hyperalgesia ISO RGD:2048 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries PMID:20065990|REF_RGD_ID:5129094 11849728 ADORA1 adenosine A1 receptor gene DOID:9002955 Nerve Degeneration ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23437309 11849728 ADORA1 adenosine A1 receptor gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2048 D RGD:9068941 20220616 RGD protein:decreased expression:brain: PMID:25720338|REF_RGD_ID:152995398 11849728 ADORA1 adenosine A1 receptor gene DOID:9003805 Catalepsy ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9407998 11849728 ADORA1 adenosine A1 receptor gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:730817 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11849728 ADORA1 adenosine A1 receptor gene DOID:9004760 Paroxysmal Dyspnea ISO RGD:730817 D RGD:9068941 20200609 RGD PMID:21388992|REF_RGD_ID:5129099 11849728 ADORA1 adenosine A1 receptor gene DOID:9005372 Inflammation ISO RGD:2048 D RGD:9068941 20200609 RGD PMID:2167912|REF_RGD_ID:5129103 11849728 ADORA1 adenosine A1 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2048 D RGD:9068941 20200609 RGD PMID:11593763|REF_RGD_ID:2313808 11849728 ADORA1 adenosine A1 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2048 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:16256246|REF_RGD_ID:2313805 11849728 ADORA1 adenosine A1 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730818 D RGD:9068941 20200609 RGD PMID:19276628|REF_RGD_ID:2313804 11849728 ADORA1 adenosine A1 receptor gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2048 D RGD:9068941 20200609 RGD associated with hypertension PMID:9597368|REF_RGD_ID:1625365 11849728 ADORA1 adenosine A1 receptor gene DOID:9006024 Hypotension ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15641640|PMID:18313046 11849728 ADORA1 adenosine A1 receptor gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15641640 11849728 ADORA1 adenosine A1 receptor gene DOID:9007001 Bradycardia ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18313046 11849728 ADORA1 adenosine A1 receptor gene DOID:9007039 Ventricular Dysfunction ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15641640 11849728 ADORA1 adenosine A1 receptor gene DOID:9007692 Insulin Resistance ISO RGD:730817 D RGD:9068941 20200609 RGD associated with Obesity PMID:11703426|REF_RGD_ID:2313807 11849728 ADORA1 adenosine A1 receptor gene DOID:9007692 Insulin Resistance treatment ISO RGD:2048 D RGD:9068941 20200609 RGD PMID:15220221|REF_RGD_ID:1625243 11849728 ADORA1 adenosine A1 receptor gene DOID:9009131 Ventriculomegaly ISO RGD:2048 D RGD:9068941 20200609 RGD PMID:12151769|REF_RGD_ID:1625283 11849728 ADORA1 adenosine A1 receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11849728 ADORA1 adenosine A1 receptor gene DOID:9970 obesity ISO RGD:730817 D RGD:9068941 20200609 RGD protein:increased expression:visceral adipose tissue:increased density of ligand binding sites on VAT in African American women compared to Caucasian women PMID:16507638|REF_RGD_ID:1625369 11849739 PNPLA7 patatin like phospholipase domain containing 7 gene DOID:0050436 mulibrey nanism ISO RGD:1353397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mulibrey nanism syndrome 11849739 PNPLA7 patatin like phospholipase domain containing 7 gene DOID:0050777 Joubert syndrome ISO RGD:1353397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11849739 PNPLA7 patatin like phospholipase domain containing 7 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1353397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 11849739 PNPLA7 patatin like phospholipase domain containing 7 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1353397 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 11849739 PNPLA7 patatin like phospholipase domain containing 7 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1353397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11849739 PNPLA7 patatin like phospholipase domain containing 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353397 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11849739 PNPLA7 patatin like phospholipase domain containing 7 gene DOID:0081097 Rafiq syndrome ISO RGD:1353397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11849739 PNPLA7 patatin like phospholipase domain containing 7 gene DOID:1826 epilepsy ISO RGD:1353397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11849739 PNPLA7 patatin like phospholipase domain containing 7 gene DOID:5426 primary ovarian insufficiency ISO RGD:1353397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:31042289 11849739 PNPLA7 patatin like phospholipase domain containing 7 gene DOID:630 genetic disease ISO RGD:1353397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849739 PNPLA7 patatin like phospholipase domain containing 7 gene DOID:9002421 Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development ISO RGD:1353397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development PMID:25741868 11849739 PNPLA7 patatin like phospholipase domain containing 7 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1353397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:0050438 Frasier syndrome ISO RGD:733930 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Frasier syndrome PMID:25741868|PMID:28492532 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:20437590|PMID:22131395|PMID:24747641|PMID:25678871|PMID:25741868|PMID:26073591|PMID:26467025|PMID:27541642|PMID:28166811|PMID:28488083|PMID:28492532|PMID:30351409|PMID:30986657 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733930 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:17576681|PMID:20437590|PMID:22131395|PMID:24747641|PMID:25640679|PMID:25678871|PMID:25741868|PMID:26073591|PMID:26467025|PMID:27541642|PMID:28488083|PMID:28492532|PMID:29056246|PMID:30351409|PMID:34055682|PMID:9536098 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:0080429 developmental and epileptic encephalopathy 24 ISO RGD:733930 D RGD:7240710 20180130 OMIM 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:0080429 developmental and epileptic encephalopathy 24 ISO RGD:733930 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 24 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 24 PMID:24747641|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30351409|PMID:33822003 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:0080454 developmental and epileptic encephalopathy 42 ISO RGD:733930 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42 PMID:25741868 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:733930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747641 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:620688 D RGD:9068941 20200609 RGD protein:decreased expression:neocortex: PMID:20618401|REF_RGD_ID:9686432 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:0111296 generalized epilepsy with febrile seizures plus 10 ISO RGD:733930 D RGD:7240710 20190710 OMIM 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:0111296 generalized epilepsy with febrile seizures plus 10 ISO RGD:733930 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 10 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 10 PMID:25741868|PMID:26467025|PMID:28492532|PMID:29936235|PMID:30351409 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733930 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:17576681|PMID:20437590|PMID:22131395|PMID:24747641|PMID:25640679|PMID:25678871|PMID:25741868|PMID:26073591|PMID:26467025|PMID:27541642|PMID:28488083|PMID:28492532|PMID:29056246|PMID:30351409|PMID:34055682|PMID:9536098 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:1059 intellectual disability ISO RGD:733930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:11832 visual epilepsy ISO RGD:620688 D RGD:9068941 20220728 RGD PMID:17988239|REF_RGD_ID:9686135 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:13884 sick sinus syndrome ISO RGD:733931 D RGD:9068941 20220825 MouseDO OMIM:163800 | OMIM:608567 | OMIM:614090 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:1824 status epilepticus ISO RGD:620688 D RGD:9068941 20200609 RGD PMID:21976514|REF_RGD_ID:9686365 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:1825 childhood absence epilepsy ISO RGD:620688 D RGD:9068941 20200609 RGD PMID:15182313|REF_RGD_ID:9686420 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:1826 epilepsy ISO RGD:733930 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:2030 anxiety disorder ISO RGD:620688 D RGD:9068941 20200609 RGD PMID:22884333|REF_RGD_ID:9686419 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:3324 mood disorder ISO RGD:620688 D RGD:9068941 20200609 RGD PMID:22884333|REF_RGD_ID:9686419 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:620688 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus: PMID:12890777|REF_RGD_ID:9686145 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:620688 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus: PMID:21905079|REF_RGD_ID:9686146 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:733930 D RGD:9068941 20200609 RGD PMID:12890777|REF_RGD_ID:9686145 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:630 genetic disease ISO RGD:733930 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:20437590|PMID:22131395|PMID:24747641|PMID:25678871|PMID:25741868|PMID:26073591|PMID:26467025|PMID:27541642|PMID:27864847|PMID:28488083|PMID:28492532 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:620688 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:hippocampus: PMID:22378889|REF_RGD_ID:9686397 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9000495 Tremor ISO RGD:620688 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:c.1061C>T, p.A354V(rat) PMID:25970616|REF_RGD_ID:11060746 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9000930 Dental Pulp Exposure ISO RGD:620688 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:17645513|REF_RGD_ID:9686147 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9000998 Brain Injuries ISO RGD:620688 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:hippocampus: PMID:11726545|REF_RGD_ID:9686434 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:733930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:30351409 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620688 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus,cortex: PMID:19892002|REF_RGD_ID:9686395 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9004866 Ataxia ISO RGD:733930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19747469 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620688 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:19815055|REF_RGD_ID:9693680 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9006205 Animal Disease Models ISO RGD:733930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19747469 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9007956 Febrile Seizures ISO RGD:620688 D RGD:9068941 20200609 RGD PMID:15837575|REF_RGD_ID:9686385 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:620688 D RGD:9068941 20200609 RGD PMID:24838625|REF_RGD_ID:9686415 11849783 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9471 meningitis ISO RGD:620688 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:19409968|REF_RGD_ID:2316615 11849796 HSD17B14 hydroxysteroid 17-beta dehydrogenase 14 gene DOID:630 genetic disease ISO RGD:1312097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849796 HSD17B14 hydroxysteroid 17-beta dehydrogenase 14 gene DOID:9002189 High Myopia ISO RGD:1312097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11849861 C2CD5 C2 calcium dependent domain containing 5 gene DOID:630 genetic disease ISO RGD:736134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849912 INPP5B inositol polyphosphate-5-phosphatase B gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1342739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11849912 INPP5B inositol polyphosphate-5-phosphatase B gene DOID:630 genetic disease ISO RGD:1342739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849912 INPP5B inositol polyphosphate-5-phosphatase B gene DOID:9007045 Dent Disease 2 ISO RGD:1342739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dent disease type 2 PMID:28018608 11849940 RPRM reprimo, TP53 dependent G2 arrest mediator homolog gene DOID:630 genetic disease ISO RGD:1350669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11849940 RPRM reprimo, TP53 dependent G2 arrest mediator homolog gene DOID:9000117 Esophageal Neoplasms ISO RGD:1350669 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17121882 11849940 RPRM reprimo, TP53 dependent G2 arrest mediator homolog gene DOID:9206 Barrett's esophagus ISO RGD:1350669 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17121882 11849980 LOC103785525 vomeronasal type-1 receptor 5-like gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1352631 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11849980 LOC103785525 vomeronasal type-1 receptor 5-like gene DOID:1540 parathyroid carcinoma ISO RGD:1352631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11849980 LOC103785525 vomeronasal type-1 receptor 5-like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11849999 KIAA0753 KIAA0753 ortholog gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1605106 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868|PMID:28492532|PMID:29138412|PMID:31816441 11849999 KIAA0753 KIAA0753 ortholog gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1605106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:28492532 11849999 KIAA0753 KIAA0753 ortholog gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1605106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 11849999 KIAA0753 KIAA0753 ortholog gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:1605106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 11849999 KIAA0753 KIAA0753 ortholog gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1605106 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11849999 KIAA0753 KIAA0753 ortholog gene DOID:630 genetic disease ISO RGD:1605106 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29138412 11849999 KIAA0753 KIAA0753 ortholog gene DOID:9005357 Orofaciodigital Syndrome XV ISO RGD:1605106 D RGD:7240710 20190315 OMIM 11849999 KIAA0753 KIAA0753 ortholog gene DOID:9005357 Orofaciodigital Syndrome XV ISO RGD:1605106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome XV PMID:17576681|PMID:25741868|PMID:26643951|PMID:28492532|PMID:29138412|PMID:9536098 11849999 KIAA0753 KIAA0753 ortholog gene DOID:9005615 Joubert Syndrome 38 ISO RGD:1605106 D RGD:7240710 20210825 OMIM 11849999 KIAA0753 KIAA0753 ortholog gene DOID:9005615 Joubert Syndrome 38 ISO RGD:1605106 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Joubert syndrome 38 PMID:25741868|PMID:28220259|PMID:28492532 11849999 KIAA0753 KIAA0753 ortholog gene DOID:9008070 Short-Rib Thoracic Dysplasia 21 without Polydactyly ISO RGD:1605106 D RGD:7240710 20210825 OMIM 11849999 KIAA0753 KIAA0753 ortholog gene DOID:9008070 Short-Rib Thoracic Dysplasia 21 without Polydactyly ISO RGD:1605106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 21 without polydactyly PMID:25741868|PMID:28492532|PMID:29138412|PMID:31816441|PMID:34016807|PMID:34523780 11850057 SLC27A2 solute carrier family 27 member 2 gene DOID:2717 Bloom syndrome ISO RGD:1346073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11850057 SLC27A2 solute carrier family 27 member 2 gene DOID:630 genetic disease ISO RGD:1346073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850057 SLC27A2 solute carrier family 27 member 2 gene DOID:9000784 Fibrosis ISO RGD:1346073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28871336 11850057 SLC27A2 solute carrier family 27 member 2 gene DOID:9256 colorectal cancer ISO RGD:1346073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11850073 PLD6 phospholipase D family member 6 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1602058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome | ClinVar Annotator: match by term: Hornstein-Knickenberg syndrome PMID:15852235|PMID:20188345|PMID:28492532 11850073 PLD6 phospholipase D family member 6 gene DOID:0050777 Joubert syndrome ISO RGD:1602058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11850073 PLD6 phospholipase D family member 6 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1602058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 11850073 PLD6 phospholipase D family member 6 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1602058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 11850073 PLD6 phospholipase D family member 6 gene DOID:12849 autistic disorder ISO RGD:1602058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11850073 PLD6 phospholipase D family member 6 gene DOID:630 genetic disease ISO RGD:1602058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850079 TBC1D22A TBC1 domain family member 22A gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1602007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11850079 TBC1D22A TBC1 domain family member 22A gene DOID:1059 intellectual disability ISO RGD:1602007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11850079 TBC1D22A TBC1 domain family member 22A gene DOID:630 genetic disease ISO RGD:1602007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850105 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:0060027 agammaglobulinemia 4 ISO RGD:733329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive PMID:28492532 11850105 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:0060374 orofaciodigital syndrome IV ISO RGD:733329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Orofacial-digital syndrome IV PMID:28492532 11850105 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:0110815 hereditary spastic paraplegia 64 ISO RGD:733329 D RGD:7240710 20180130 OMIM 11850105 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:0110815 hereditary spastic paraplegia 64 ISO RGD:733329 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 64 PMID:17576681|PMID:24482476|PMID:25741868|PMID:28492532|PMID:29691679|PMID:30652007|PMID:35471564|PMID:9536098 11850105 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:1059 intellectual disability ISO RGD:733329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11850105 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:10591 pre-eclampsia ISO RGD:733329 D RGD:9068941 20200609 RGD protein:decreased expression:abdominal fascia: PMID:17469012|REF_RGD_ID:9685457 11850105 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:1459 hypothyroidism ISO RGD:69265 D RGD:9068941 20200609 RGD mRNA,protein:increased expression,increased activity:hippocampus: PMID:15811553|REF_RGD_ID:9685476 11850105 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:1852 intrahepatic cholestasis ISO RGD:69265 D RGD:9068941 20200609 RGD protein:decreased activity,altered location:liver: PMID:11383876|REF_RGD_ID:9685454 11850105 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:224 transient cerebral ischemia ISO RGD:69265 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:9634555|REF_RGD_ID:9685492 11850105 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:733329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 11850105 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:3213 demyelinating disease ISO RGD:69265 D RGD:9068941 20200609 RGD PMID:17239402|REF_RGD_ID:9685485 11850105 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:630 genetic disease ISO RGD:733329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11850105 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9001036 Penetrating Head Injuries ISO RGD:69265 D RGD:9068941 20200609 RGD protein:increased expression,increased activity:cerebral cortex: PMID:16672190|REF_RGD_ID:9685448 11850105 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9002514 Neointima treatment ISO RGD:733329 D RGD:9068941 20200609 RGD PMID:18485080|REF_RGD_ID:9685444 11850105 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis disease_progression ISO RGD:69265 D RGD:9068941 20200609 RGD PMID:19524108|REF_RGD_ID:9685491 11850105 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9004283 Transplant Rejection ISO RGD:733330 D RGD:9068941 20200609 RGD PMID:10656876|REF_RGD_ID:9685445 11850105 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9004484 Sepsis ISO RGD:69265 D RGD:9068941 20200609 RGD protein:increased activity:lymphocyte: PMID:22645477|REF_RGD_ID:9685487 11850105 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69265 D RGD:9068941 20200609 RGD protein,mRNA:increased expression:glial cell, retina: PMID:18687327|REF_RGD_ID:9685473 11850105 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69265 D RGD:9068941 20200609 RGD protein:enzyme activity:platelet PMID:17119848|REF_RGD_ID:9685486 11850105 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9005725 Iron Overload ISO RGD:69265 D RGD:9068941 20200609 RGD protein:enzyme activity:platelet PMID:17119848|REF_RGD_ID:9685486 11850105 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:733329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 11850105 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9008217 Hemorrhage ISO RGD:733330 D RGD:9068941 20200609 RGD PMID:10470077|REF_RGD_ID:735004 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:732624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:732624 D RGD:9068941 20220715 RGD mRNA:increased expression:oral cavity (human) PMID:29286141|REF_RGD_ID:152999009 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:732624 D RGD:9068941 20220721 RGD protein:increased expression:oral cavity (human) PMID:20967871|REF_RGD_ID:152999012 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:0050866 oral squamous cell carcinoma ameliorates ISO RGD:732624 D RGD:9068941 20220714 RGD protein:decreased expression:oral cavity (human) PMID:21952624|REF_RGD_ID:152998987 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:732624 D RGD:9068941 20220714 RGD protein:increased expression:oral cavity (human) PMID:23852810|REF_RGD_ID:152998980 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue treatment ISO RGD:732624 D RGD:9068941 20220811 RGD DNA:gene fusion: (human) PMID:21465313|REF_RGD_ID:153305955 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:0060108 brain glioma exacerbates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:brain (human) PMID:31964418|REF_RGD_ID:153344516 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:0080199 colorectal carcinoma ameliorates ISO RGD:732624 D RGD:9068941 20220715 RGD human cell line in a mouse model PMID:30630498|REF_RGD_ID:152999008 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:732624 D RGD:9068941 20220728 RGD protein:increased expression:liver (human) PMID:29307797|REF_RGD_ID:153297819 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:1059 intellectual disability ISO RGD:732624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:11054 urinary bladder cancer ISO RGD:732624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12926068 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:1240 leukemia ISO RGD:732624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12970779 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:12704 ataxia telangiectasia ISO RGD:732624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:1996 rectum adenocarcinoma ameliorates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:rectum (human) PMID:31964418|REF_RGD_ID:153344516 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:219 colon cancer disease_progression ISO RGD:732624 D RGD:9068941 20220714 RGD protein:increased expression:colon (human) PMID:22751125|REF_RGD_ID:152998979 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:3068 glioblastoma exacerbates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:brain (human) PMID:31964418|REF_RGD_ID:153344516 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:3459 breast carcinoma ameliorates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:breast (human) PMID:31964418|REF_RGD_ID:153344516 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:stomach (human) PMID:31964418|REF_RGD_ID:153344516 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:732624 D RGD:9068941 20220728 RGD DNA:SNP:intron: (rs11225211) (human) PMID:32905523|REF_RGD_ID:153297804 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:732624 D RGD:9068941 20220715 RGD protein:increased expression:lung (human) PMID:20959404|PMID:27737687|REF_RGD_ID:152998985|REF_RGD_ID:152999005 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:732624 D RGD:9068941 20220811 RGD mRNA:increased expression:B cell (human) PMID:33098370|REF_RGD_ID:153323293 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:3948 adrenocortical carcinoma ameliorates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:adrenal gland (human) PMID:31964418|REF_RGD_ID:153344516 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:3963 thyroid gland carcinoma disease_progression ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:thyroid gland (human) PMID:31964418|REF_RGD_ID:153344516 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:4074 pancreatic adenocarcinoma disease_progression ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:pancreas (human) PMID:31964418|REF_RGD_ID:153344516 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:4450 renal cell carcinoma ISO RGD:732624 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney PMID:17154176|REF_RGD_ID:1643526 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:4465 papillary renal cell carcinoma exacerbates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:kidney (human) PMID:31964418|REF_RGD_ID:153344516 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:kidney (human) PMID:31964418|REF_RGD_ID:153344516 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:4914 esophagus adenocarcinoma treatment ISO RGD:732624 D RGD:9068941 20220715 RGD PMID:26291056|REF_RGD_ID:152999007 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:4948 gallbladder carcinoma exacerbates ISO RGD:732624 D RGD:9068941 20220728 RGD mRNA:increased expression:gall bladder (human) PMID:28295868|REF_RGD_ID:153297817 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:732624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:5520 head and neck squamous cell carcinoma ameliorates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:head or neck skin (human) PMID:31964418|REF_RGD_ID:153344516 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:5746 ovarian serous cystadenocarcinoma exacerbates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:ovary (human) PMID:31964418|REF_RGD_ID:153344516 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:630 genetic disease ISO RGD:732624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:732624 D RGD:9068941 20220714 RGD human cell line in a mouse model PMID:30368883|PMID:33310033|REF_RGD_ID:152998937|REF_RGD_ID:152998988 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:732624 D RGD:9068941 20220714 RGD associated with hepatitis B;mRNA, protein:increased expression:liver (human) PMID:22682366|REF_RGD_ID:152998984 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:732624 D RGD:9068941 20220714 RGD mRNA, protein:increased expression:liver (human) PMID:22820591|REF_RGD_ID:152998986 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:732624 D RGD:9068941 20220715 RGD human cell line in a mouse model PMID:30210622|REF_RGD_ID:152999010 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:769 neuroblastoma ISO RGD:732624 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:9000099 Experimental Colitis exacerbates ISO RGD:733266 D RGD:9068941 20220728 RGD PMID:26037070|REF_RGD_ID:11537970 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:9000918 Disease Progression ISO RGD:732624 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:9002846 bowenoid papulosis ISO RGD:732624 D RGD:9068941 20220714 RGD mRNA:increased expression:perianal skin (human) PMID:20346172|REF_RGD_ID:152998971 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:9003566 Mesothelioma ameliorates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:mesothelium (human) PMID:31964418|REF_RGD_ID:153344516 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:9003654 Testicular Germ Cell Tumor exacerbates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:testis (human) PMID:31964418|REF_RGD_ID:153344516 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:9004831 Colitis-Associated Neoplasms ameliorates ISO RGD:733266 D RGD:9068941 20220728 RGD PMID:26037070|REF_RGD_ID:11537970 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:9004831 Colitis-Associated Neoplasms disease_progression ISO RGD:732624 D RGD:9068941 20220811 RGD mRNA:increased expression:colonic mucosa (human) PMID:23388545|REF_RGD_ID:153323294 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:732624 D RGD:9068941 20220728 RGD protein:increased expression:liver (human) PMID:29307797|REF_RGD_ID:153297819 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:9008114 Helicobacter Infections treatment ISO RGD:732624 D RGD:9068941 20220728 RGD associated with stomach cancer PMID:27282269|REF_RGD_ID:153297818 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:9008114 Helicobacter Infections treatment ISO RGD:732624 D RGD:9068941 20220811 RGD associated with MALT lymphoma;DNA:gene fusion: (human) PMID:11398794|REF_RGD_ID:153305954 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:9008163 Chronic Hepatitis B ameliorates ISO RGD:733266 D RGD:9068941 20220707 RGD PMID:25902529|REF_RGD_ID:152998939 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:9256 colorectal cancer ISO RGD:732624 D RGD:9068941 20220721 RGD protein:increased expression:colorectal mucosa, cytoplasm (human) PMID:30653121|REF_RGD_ID:152999015 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:9256 colorectal cancer exacerbates ISO RGD:732624 D RGD:9068941 20220811 RGD mRNA:increased expression:colorectum (human) PMID:34389694|REF_RGD_ID:153305952 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:9256 colorectal cancer exacerbates ISO RGD:732624 D RGD:9068941 20220825 RGD mRNA:decreased expression:colonic mucosa (human) PMID:27827395|REF_RGD_ID:153344527 11850130 BIRC3 baculoviral IAP repeat containing 3 gene DOID:9452 fatty liver disease ISO RGD:732624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 11850143 SST somatostatin gene DOID:10763 hypertension ISO RGD:3761 D RGD:9068941 20200609 RGD protein:altered expression:stomach PMID:17928643|REF_RGD_ID:2303191 11850143 SST somatostatin gene DOID:10808 gastric ulcer ISO RGD:3761 D RGD:9068941 20200609 RGD PMID:17990461|REF_RGD_ID:2303186 11850143 SST somatostatin gene DOID:112 esophageal varix ISO RGD:734231 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1385068 11850143 SST somatostatin gene DOID:14566 disease of cellular proliferation ISO RGD:734231 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21692635 11850143 SST somatostatin gene DOID:1793 pancreatic cancer ISO RGD:734231 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2868874 11850143 SST somatostatin gene DOID:289 endometriosis ISO RGD:734231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 11850143 SST somatostatin gene DOID:326 ischemia ISO RGD:734231 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18624922 11850143 SST somatostatin gene DOID:3324 mood disorder ISO RGD:734231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25600109 11850143 SST somatostatin gene DOID:4500 hypokalemia ISO RGD:734231 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2563217 11850143 SST somatostatin gene DOID:4989 pancreatitis ISO RGD:734231 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7911442 11850143 SST somatostatin gene DOID:5419 schizophrenia ISO RGD:734231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11850143 SST somatostatin gene DOID:5574 vipoma ISO RGD:734231 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2868874 11850143 SST somatostatin gene DOID:8725 vascular dementia ISO RGD:3761 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:18925713|REF_RGD_ID:2303174 11850143 SST somatostatin gene DOID:9000117 Esophageal Neoplasms ISO RGD:734231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17999418 11850143 SST somatostatin gene DOID:9002906 Multiple Organ Failure ISO RGD:734231 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15834315 11850143 SST somatostatin gene DOID:9003281 Spontaneous Abortions ISO RGD:734231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11850143 SST somatostatin gene DOID:9206 Barrett's esophagus ISO RGD:734231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17999418 11850149 VAMP3 vesicle associated membrane protein 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:736779 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11850149 VAMP3 vesicle associated membrane protein 3 gene DOID:630 genetic disease ISO RGD:736779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850149 VAMP3 vesicle associated membrane protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11850158 CFAP300 cilia and flagella associated protein 300 gene DOID:0050545 visceral heterotaxy ISO RGD:1605606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Situs ambiguus 11850158 CFAP300 cilia and flagella associated protein 300 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1605606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 11850158 CFAP300 cilia and flagella associated protein 300 gene DOID:0111852 primary ciliary dyskinesia 38 ISO RGD:1605606 D RGD:7240710 20190315 OMIM 11850158 CFAP300 cilia and flagella associated protein 300 gene DOID:0111852 primary ciliary dyskinesia 38 ISO RGD:1605606 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 38 PMID:25741868|PMID:28492532|PMID:29727692|PMID:29727693 11850158 CFAP300 cilia and flagella associated protein 300 gene DOID:1059 intellectual disability ISO RGD:1605606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11850158 CFAP300 cilia and flagella associated protein 300 gene DOID:12704 ataxia telangiectasia ISO RGD:1605606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11850158 CFAP300 cilia and flagella associated protein 300 gene DOID:758 situs inversus ISO RGD:1605606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence 11850169 ZNF132 zinc finger protein 132 gene DOID:630 genetic disease ISO RGD:1350451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850176 C9 complement C9 gene DOID:0060303 complement component 9 deficiency ISO RGD:1320687 D RGD:7240710 20230510 OMIM 11850176 C9 complement C9 gene DOID:0060303 complement component 9 deficiency ISO RGD:1320687 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Complement component 9 deficiency PMID:11359403|PMID:12596049|PMID:22190594|PMID:2241452|PMID:25741868|PMID:28492532|PMID:28617419|PMID:9144525|PMID:9182899|PMID:9570574|PMID:9634479|PMID:9703418 11850176 C9 complement C9 gene DOID:0080176 meningococcal meningitis ISO RGD:1320687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9570574 11850176 C9 complement C9 gene DOID:0080322 polycystic kidney disease treatment ISO RGD:620319 D RGD:9068941 20200609 RGD PMID:24494798|REF_RGD_ID:8661641 11850176 C9 complement C9 gene DOID:0080322 polycystic kidney disease treatment ISO RGD:732832 D RGD:9068941 20200609 RGD PMID:24494798|REF_RGD_ID:8661641 11850176 C9 complement C9 gene DOID:0110027 age related macular degeneration 15 ISO RGD:1320687 D RGD:7240710 20230510 OMIM 11850176 C9 complement C9 gene DOID:0110027 age related macular degeneration 15 ISO RGD:1320687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 15 PMID:24036952|PMID:28492532 11850176 C9 complement C9 gene DOID:10223 dermatomyositis ISO RGD:1320687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11359403 11850176 C9 complement C9 gene DOID:1790 malignant mesothelioma ISO RGD:1320687 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 11850176 C9 complement C9 gene DOID:2559 opiate dependence ISO RGD:1320687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 11850176 C9 complement C9 gene DOID:3134 facial dermatosis ISO RGD:1320687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11359403 11850176 C9 complement C9 gene DOID:4448 macular degeneration ISO RGD:1320687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24036952 11850176 C9 complement C9 gene DOID:612 primary immunodeficiency disease ISO RGD:1320687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11359403|PMID:9570574 11850176 C9 complement C9 gene DOID:630 genetic disease ISO RGD:1320687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11850176 C9 complement C9 gene DOID:684 hepatocellular carcinoma ISO RGD:1320687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144|PMID:28284560 11850176 C9 complement C9 gene DOID:898 autosomal dominant polycystic kidney disease disease_progression ISO RGD:1320687 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:24494798|REF_RGD_ID:8661641 11850176 C9 complement C9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11850176 C9 complement C9 gene DOID:9006976 Erythema ISO RGD:1320687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11359403 11850194 TEKTL1 tektin like 1 gene DOID:630 genetic disease ISO RGD:1602986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850205 TBC1D8B TBC1 domain family member 8B gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1606538 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 11850205 TBC1D8B TBC1 domain family member 8B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11850205 TBC1D8B TBC1 domain family member 8B gene DOID:0070357 nephrotic syndrome type 20 ISO RGD:1606538 D RGD:7240710 20190731 OMIM 11850205 TBC1D8B TBC1 domain family member 8B gene DOID:0070357 nephrotic syndrome type 20 ISO RGD:1606538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 20 PMID:25741868|PMID:28492532|PMID:30661770|PMID:31732614 11850205 TBC1D8B TBC1 domain family member 8B gene DOID:1184 nephrotic syndrome ISO RGD:1606538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:31732614 11850205 TBC1D8B TBC1 domain family member 8B gene DOID:12849 autistic disorder ISO RGD:1606538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11850205 TBC1D8B TBC1 domain family member 8B gene DOID:630 genetic disease ISO RGD:1606538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11850235 LOC100976343 cytochrome c oxidase assembly protein COX11, mitochondrial gene DOID:630 genetic disease ISO RGD:1320366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850235 LOC100976343 cytochrome c oxidase assembly protein COX11, mitochondrial gene DOID:9004597 Mitochondrial Complex IV Deficiency, Nuclear Type 23 ISO RGD:1320366 D RGD:7240710 20230505 OMIM 11850235 LOC100976343 cytochrome c oxidase assembly protein COX11, mitochondrial gene DOID:9004597 Mitochondrial Complex IV Deficiency, Nuclear Type 23 ISO RGD:1320366 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 23 PMID:36030551 11850251 LOC100977464 olfactory receptor 51M1 gene DOID:630 genetic disease ISO RGD:1349567 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850256 KIAA1143 KIAA1143 ortholog gene DOID:630 genetic disease ISO RGD:1606528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850293 PPIG peptidylprolyl isomerase G gene DOID:630 genetic disease ISO RGD:731455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850325 FABP7 fatty acid binding protein 7 gene DOID:1826 epilepsy ISO RGD:1353760 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11850325 FABP7 fatty acid binding protein 7 gene DOID:3068 glioblastoma severity ISO RGD:1353760 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain (human) PMID:15827123|REF_RGD_ID:1578468 11850325 FABP7 fatty acid binding protein 7 gene DOID:630 genetic disease ISO RGD:1353760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850325 FABP7 fatty acid binding protein 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 11850325 FABP7 fatty acid binding protein 7 gene DOID:9008939 Breast Neoplasms ISO RGD:1353760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22322885 11850341 KNOP1 lysine rich nucleolar protein 1 gene DOID:630 genetic disease ISO RGD:1606640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850350 SF3B1 splicing factor 3b subunit 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346641 D RGD:7240710 20180130 OMIM 11850350 SF3B1 splicing factor 3b subunit 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346641 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia PMID:21909114|PMID:21995386|PMID:23395771|PMID:25741868 11850350 SF3B1 splicing factor 3b subunit 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1346641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma PMID:25741868|PMID:26619011 11850350 SF3B1 splicing factor 3b subunit 1 gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:1346641 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:23395771 11850350 SF3B1 splicing factor 3b subunit 1 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1346641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:26619011 11850350 SF3B1 splicing factor 3b subunit 1 gene DOID:1790 malignant mesothelioma ISO RGD:1346641 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 11850350 SF3B1 splicing factor 3b subunit 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1346641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:25741868|PMID:26619011 11850350 SF3B1 splicing factor 3b subunit 1 gene DOID:4450 renal cell carcinoma ISO RGD:1346641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:26619011 11850350 SF3B1 splicing factor 3b subunit 1 gene DOID:6039 uveal melanoma ISO RGD:1346641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uveal melanoma PMID:25741868|PMID:26619011 11850350 SF3B1 splicing factor 3b subunit 1 gene DOID:630 genetic disease ISO RGD:1346641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850350 SF3B1 splicing factor 3b subunit 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1346641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:23634996|PMID:26619011 11850350 SF3B1 splicing factor 3b subunit 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1346641 D RGD:9068941 20210423 RGD mRNA, protein:increased expression:liver PMID:33038489|REF_RGD_ID:126790494 11850350 SF3B1 splicing factor 3b subunit 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1346641 D RGD:9068941 20210423 RGD PMID:33038489|REF_RGD_ID:126790494 11850350 SF3B1 splicing factor 3b subunit 1 gene DOID:8923 skin melanoma ISO RGD:1346641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:23634996|PMID:25741868|PMID:26619011 11850350 SF3B1 splicing factor 3b subunit 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1346641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:23634996|PMID:25741868|PMID:26619011 11850350 SF3B1 splicing factor 3b subunit 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346641 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11850350 SF3B1 splicing factor 3b subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11850350 SF3B1 splicing factor 3b subunit 1 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1346641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:26619011 11850350 SF3B1 splicing factor 3b subunit 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1346641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:23634996|PMID:26619011 11850350 SF3B1 splicing factor 3b subunit 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1346641 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:21909114|PMID:21995386|PMID:23395771|PMID:23634996|PMID:25741868|PMID:26619011 11850379 LOC100981933 cytochrome c oxidase assembly protein COX14 gene DOID:630 genetic disease ISO RGD:1602844 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11850379 LOC100981933 cytochrome c oxidase assembly protein COX14 gene DOID:9006390 Mitochondrial Complex IV Deficiency, Nuclear Type 10 ISO RGD:1602844 D RGD:7240710 20201111 OMIM 11850379 LOC100981933 cytochrome c oxidase assembly protein COX14 gene DOID:9006390 Mitochondrial Complex IV Deficiency, Nuclear Type 10 ISO RGD:1602844 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10 PMID:22243966|PMID:25741868|PMID:28492532 11850395 C1H1orf167 chromosome 1 C1orf167 homolog gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1604177 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11850395 C1H1orf167 chromosome 1 C1orf167 homolog gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604177 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11850395 C1H1orf167 chromosome 1 C1orf167 homolog gene DOID:3393 coronary artery disease ISO RGD:1604177 D RGD:9068941 20200609 RGD DNA:SNP: :rs56001051(human) PMID:31175347|REF_RGD_ID:14696712 11850395 C1H1orf167 chromosome 1 C1orf167 homolog gene DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency ISO RGD:1604177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:25741868 11850395 C1H1orf167 chromosome 1 C1orf167 homolog gene DOID:9001989 Folate-Sensitive Neural Tube Defects ISO RGD:1604177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive 11850395 C1H1orf167 chromosome 1 C1orf167 homolog gene DOID:9007096 Stroke ISO RGD:1604177 D RGD:9068941 20200609 RGD DNA:SNP: :rs56001051(human) PMID:31175347|REF_RGD_ID:14696712 11850395 C1H1orf167 chromosome 1 C1orf167 homolog gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1604177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 11850421 SATL1 spermidine/spermine N1-acetyl transferase like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11850421 SATL1 spermidine/spermine N1-acetyl transferase like 1 gene DOID:12849 autistic disorder ISO RGD:1343887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11850421 SATL1 spermidine/spermine N1-acetyl transferase like 1 gene DOID:630 genetic disease ISO RGD:1343887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850434 SLN sarcolipin gene DOID:1059 intellectual disability ISO RGD:1313124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11850434 SLN sarcolipin gene DOID:12704 ataxia telangiectasia ISO RGD:1313124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11850434 SLN sarcolipin gene DOID:630 genetic disease ISO RGD:1313124 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850434 SLN sarcolipin gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1313124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11850440 ATP6V1B2 ATPase H+ transporting V1 subunit B2 gene DOID:0050873 follicular lymphoma ISO RGD:732120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26691987 11850440 ATP6V1B2 ATPase H+ transporting V1 subunit B2 gene DOID:0080720 autosomal dominant congenital deafness with onychodystrophy ISO RGD:732120 D RGD:7240710 20190315 OMIM 11850440 ATP6V1B2 ATPase H+ transporting V1 subunit B2 gene DOID:0080720 autosomal dominant congenital deafness with onychodystrophy ISO RGD:732120 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant PMID:24913193|PMID:25741868|PMID:28396750|PMID:31581539|PMID:31655144 11850440 ATP6V1B2 ATPase H+ transporting V1 subunit B2 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:732120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 11850440 ATP6V1B2 ATPase H+ transporting V1 subunit B2 gene DOID:630 genetic disease ISO RGD:732120 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11850440 ATP6V1B2 ATPase H+ transporting V1 subunit B2 gene DOID:8398 osteoarthritis ISO RGD:732120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11850440 ATP6V1B2 ATPase H+ transporting V1 subunit B2 gene DOID:9002680 Zimmermann-Laband Syndrome 1 ISO RGD:732120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1 PMID:18541964|PMID:23994350|PMID:25915598 11850440 ATP6V1B2 ATPase H+ transporting V1 subunit B2 gene DOID:9004260 Zimmerman Laband Syndrome ISO RGD:732120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25915598 11850440 ATP6V1B2 ATPase H+ transporting V1 subunit B2 gene DOID:9008174 Zimmermann-Laband Syndrome 2 ISO RGD:732120 D RGD:7240710 20191113 OMIM 11850440 ATP6V1B2 ATPase H+ transporting V1 subunit B2 gene DOID:9008174 Zimmermann-Laband Syndrome 2 ISO RGD:732120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Zimmermann-Laband syndrome 2 | ClinVar Annotator: match by term: Zimmermann-Laband syndrome with epileptic encephalopathy PMID:18541964|PMID:23994350|PMID:25741868|PMID:25915598 11850463 ROR2 receptor tyrosine kinase like orphan receptor 2 gene DOID:0050581 brachydactyly ISO RGD:1313207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly 11850463 ROR2 receptor tyrosine kinase like orphan receptor 2 gene DOID:0060764 autosomal recessive Robinow syndrome ISO RGD:1313207 D RGD:7240710 20180130 OMIM 11850463 ROR2 receptor tyrosine kinase like orphan receptor 2 gene DOID:0060764 autosomal recessive Robinow syndrome ISO RGD:1313207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive Robinow syndrome | ClinVar Annotator: match by term: COVESDEM SYNDROME | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly PMID:10932186|PMID:10932187|PMID:10986040|PMID:15952209|PMID:16049033|PMID:17665217|PMID:18252861|PMID:18414213|PMID:18831060|PMID:19640924|PMID:25741868|PMID:26284319|PMID:28492532 11850463 ROR2 receptor tyrosine kinase like orphan receptor 2 gene DOID:0060766 autosomal dominant Robinow syndrome 1 ISO RGD:1313207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 PMID:25741868|PMID:28492532 11850463 ROR2 receptor tyrosine kinase like orphan receptor 2 gene DOID:0110002 3-methylglutaconic aciduria type 1 ISO RGD:1313207 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1 PMID:28492532 11850463 ROR2 receptor tyrosine kinase like orphan receptor 2 gene DOID:0110969 brachydactyly type B1 ISO RGD:1313207 D RGD:7240710 20180130 OMIM 11850463 ROR2 receptor tyrosine kinase like orphan receptor 2 gene DOID:0110969 brachydactyly type B1 ISO RGD:1313207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly type B1 PMID:10700182|PMID:10932186|PMID:10986040|PMID:12919145|PMID:16199547|PMID:17101003|PMID:17576681|PMID:17665217|PMID:18252861|PMID:18414213|PMID:19461659|PMID:19533773|PMID:25741868|PMID:26284319|PMID:28492532|PMID:33937263|PMID:641944|PMID:9536098 11850463 ROR2 receptor tyrosine kinase like orphan receptor 2 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1313207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:28492532|PMID:31680123 11850463 ROR2 receptor tyrosine kinase like orphan receptor 2 gene DOID:630 genetic disease ISO RGD:1313207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18252861|PMID:25741868|PMID:26284319|PMID:28492532|PMID:9536098 11850463 ROR2 receptor tyrosine kinase like orphan receptor 2 gene DOID:674 cleft palate susceptibility ISO RGD:1313207 D RGD:9068941 20200609 RGD DNA:SNPs: :rs7858435, rs10820914, and rs3905385(human) PMID:22490406|REF_RGD_ID:11535950 11850463 ROR2 receptor tyrosine kinase like orphan receptor 2 gene DOID:9007661 Dwarfism ISO RGD:1313207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:28492532|PMID:31680123|PMID:33937263 11850475 GPR65 G protein-coupled receptor 65 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:1323495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:28492532 11850475 GPR65 G protein-coupled receptor 65 gene DOID:630 genetic disease ISO RGD:1323495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850475 GPR65 G protein-coupled receptor 65 gene DOID:8577 ulcerative colitis ISO RGD:1323495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30616622 11850481 NAGPA N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1319056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:28492532 11850481 NAGPA N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase gene DOID:630 genetic disease ISO RGD:1319056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850481 NAGPA N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase gene DOID:9004461 Familial Persistent Stuttering 2 ISO RGD:1319056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stuttering, familial persistent, 2 PMID:20147709|PMID:21956109 11850495 MYO1A myosin IA gene DOID:0110571 autosomal dominant nonsyndromic deafness 48 ISO RGD:1345169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 48 PMID:12736868|PMID:24033266|PMID:24616153|PMID:25741868 11850495 MYO1A myosin IA gene DOID:10003 sensorineural hearing loss ISO RGD:1345169 D RGD:9068941 20200609 RGD DFNA48, OMIM:607841 PMID:12736868|REF_RGD_ID:1600218 11850495 MYO1A myosin IA gene DOID:10283 prostate cancer ISO RGD:1345169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11850495 MYO1A myosin IA gene DOID:630 genetic disease ISO RGD:1345169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868 11850495 MYO1A myosin IA gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1345169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:24033266 11850533 MYBPH myosin binding protein H gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:734272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11850533 MYBPH myosin binding protein H gene DOID:10763 hypertension ISO RGD:620287 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.I?T, p.R?K (rat) PMID:23460292|REF_RGD_ID:12802369 11850533 MYBPH myosin binding protein H gene DOID:1540 parathyroid carcinoma ISO RGD:734272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11850533 MYBPH myosin binding protein H gene DOID:630 genetic disease ISO RGD:734272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850533 MYBPH myosin binding protein H gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:734272 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11850533 MYBPH myosin binding protein H gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11850546 DCAF8 DDB1 and CUL4 associated factor 8 gene DOID:0060178 familial hemiplegic migraine ISO RGD:1349472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 11850546 DCAF8 DDB1 and CUL4 associated factor 8 gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:1349472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) PMID:28492532 11850546 DCAF8 DDB1 and CUL4 associated factor 8 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1349472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11850546 DCAF8 DDB1 and CUL4 associated factor 8 gene DOID:0090069 giant axonal neuropathy 2 ISO RGD:1349472 D RGD:7240710 20180130 OMIM 11850546 DCAF8 DDB1 and CUL4 associated factor 8 gene DOID:0090069 giant axonal neuropathy 2 ISO RGD:1349472 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 2 PMID:24500646|PMID:25741868|PMID:28492532|PMID:3859241 11850546 DCAF8 DDB1 and CUL4 associated factor 8 gene DOID:1540 parathyroid carcinoma ISO RGD:1349472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11850546 DCAF8 DDB1 and CUL4 associated factor 8 gene DOID:630 genetic disease ISO RGD:1349472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850546 DCAF8 DDB1 and CUL4 associated factor 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11850596 PRMT8 protein arginine methyltransferase 8 gene DOID:630 genetic disease ISO RGD:1605979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850596 PRMT8 protein arginine methyltransferase 8 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1605979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11850620 NTN1 netrin 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:735502 D RGD:9068941 20200609 RGD PMID:30066400|REF_RGD_ID:13782183 11850620 NTN1 netrin 1 gene DOID:4724 brain edema ISO RGD:735501 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29162556 11850620 NTN1 netrin 1 gene DOID:630 genetic disease ISO RGD:735501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850620 NTN1 netrin 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:735501 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29162556 11850620 NTN1 netrin 1 gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:735501 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29162556 11850620 NTN1 netrin 1 gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:619809 D RGD:9068941 20221201 RGD PMID:26670826|REF_RGD_ID:155663663 11850620 NTN1 netrin 1 gene DOID:9003768 Mirror Movements 4 ISO RGD:735501 D RGD:7240710 20190315 OMIM 11850620 NTN1 netrin 1 gene DOID:9003768 Mirror Movements 4 ISO RGD:735501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mirror movements 4 PMID:28945198 11850620 NTN1 netrin 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735501 D RGD:9068941 20230128 CTD CTD Direct Evidence: therapeutic PMID:35292334 11850620 NTN1 netrin 1 gene DOID:9296 cleft lip ISO RGD:735501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate 11850630 KRT6A keratin 6A gene DOID:0050449 pachyonychia congenita ISO RGD:1346482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11850630 KRT6A keratin 6A gene DOID:630 genetic disease ISO RGD:1346482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850630 KRT6A keratin 6A gene DOID:9000914 Pachyonychia Congenita 3 ISO RGD:1346482 D RGD:7240710 20190327 OMIM 11850630 KRT6A keratin 6A gene DOID:9000914 Pachyonychia Congenita 3 ISO RGD:1346482 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pachyonychia congenita 3 PMID:11886499|PMID:16250206|PMID:17309457|PMID:21326300|PMID:22668561|PMID:24611874|PMID:25741868|PMID:28492532|PMID:31823354|PMID:32662074 11850644 ENO4 enolase 4 gene DOID:12336 male infertility ISO RGD:1351322 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23446454 11850644 ENO4 enolase 4 gene DOID:630 genetic disease ISO RGD:1351322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850665 LOC100995879 olfactory receptor 4D2 gene DOID:0050777 Joubert syndrome ISO RGD:1344303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11850665 LOC100995879 olfactory receptor 4D2 gene DOID:1059 intellectual disability ISO RGD:1344303 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11850665 LOC100995879 olfactory receptor 4D2 gene DOID:630 genetic disease ISO RGD:1344303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850668 EPB41L4A erythrocyte membrane protein band 4.1 like 4A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314419 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11850668 EPB41L4A erythrocyte membrane protein band 4.1 like 4A gene DOID:630 genetic disease ISO RGD:1314419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850668 EPB41L4A erythrocyte membrane protein band 4.1 like 4A gene DOID:9001276 Failure to Thrive ISO RGD:1314419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25558065 11850668 EPB41L4A erythrocyte membrane protein band 4.1 like 4A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11850668 EPB41L4A erythrocyte membrane protein band 4.1 like 4A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314419 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11850700 PRR23C proline rich 23C gene DOID:630 genetic disease ISO RGD:1602803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850707 PSG7 pregnancy specific beta-1-glycoprotein 7 gene DOID:0060041 autism spectrum disorder ISO RGD:1347251 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11850707 PSG7 pregnancy specific beta-1-glycoprotein 7 gene DOID:5419 schizophrenia ISO RGD:1347251 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11850707 PSG7 pregnancy specific beta-1-glycoprotein 7 gene DOID:630 genetic disease ISO RGD:1347251 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850738 BPIFB3 BPI fold containing family B member 3 gene DOID:630 genetic disease ISO RGD:1604466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850758 COMMD4 COMM domain containing 4 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1314525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 11850758 COMMD4 COMM domain containing 4 gene DOID:1826 epilepsy ISO RGD:1314525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11850758 COMMD4 COMM domain containing 4 gene DOID:2717 Bloom syndrome ISO RGD:1314525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11850758 COMMD4 COMM domain containing 4 gene DOID:5419 schizophrenia ISO RGD:1314525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11850758 COMMD4 COMM domain containing 4 gene DOID:630 genetic disease ISO RGD:1314525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850758 COMMD4 COMM domain containing 4 gene DOID:9256 colorectal cancer ISO RGD:1314525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11850770 COG2 component of oligomeric golgi complex 2 gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1312615 D RGD:7240710 20190315 OMIM 11850770 COG2 component of oligomeric golgi complex 2 gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1312615 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:17576681|PMID:24784932|PMID:25741868|PMID:28492532|PMID:32293671|PMID:9536098 11850770 COG2 component of oligomeric golgi complex 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1312615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11850770 COG2 component of oligomeric golgi complex 2 gene DOID:630 genetic disease ISO RGD:1312615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11850770 COG2 component of oligomeric golgi complex 2 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1312615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 11850770 COG2 component of oligomeric golgi complex 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11850794 LIFR LIF receptor subunit alpha gene DOID:0080205 CAKUT ISO RGD:1354198 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868|PMID:26627873|PMID:28334964|PMID:28492532|PMID:34063511|PMID:34426522 11850794 LIFR LIF receptor subunit alpha gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ISO RGD:1354198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 PMID:14740318|PMID:28492532 11850794 LIFR LIF receptor subunit alpha gene DOID:11612 polycystic ovary syndrome ISO RGD:1354198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11850794 LIFR LIF receptor subunit alpha gene DOID:2256 osteochondrodysplasia ISO RGD:1354198 D RGD:9068941 20200609 RGD Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome, OMIM:151443 PMID:14740318|REF_RGD_ID:1600614 11850794 LIFR LIF receptor subunit alpha gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1354198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 11850794 LIFR LIF receptor subunit alpha gene DOID:630 genetic disease ISO RGD:1354198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11850794 LIFR LIF receptor subunit alpha gene DOID:65 connective tissue disease ISO RGD:1354198 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28334964|PMID:28492532 11850794 LIFR LIF receptor subunit alpha gene DOID:684 hepatocellular carcinoma ISO RGD:1354198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11850794 LIFR LIF receptor subunit alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 11850794 LIFR LIF receptor subunit alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11850794 LIFR LIF receptor subunit alpha gene DOID:9004577 Stuve-Wiedemann Syndrome ISO RGD:1354198 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Stuve-Wiedemann syndrome PMID:14740318|PMID:16199547|PMID:17576681|PMID:20447141|PMID:24033266|PMID:24477277|PMID:24988918|PMID:25326635|PMID:25540807|PMID:25741868|PMID:25868946|PMID:26627873|PMID:26752647|PMID:28334964|PMID:28492532|PMID:30614825|PMID:34063511|PMID:34426522|PMID:9536098 11850794 LIFR LIF receptor subunit alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:621431 D RGD:9068941 20200609 RGD PMID:15786720|REF_RGD_ID:1581858 11850794 LIFR LIF receptor subunit alpha gene DOID:9008086 Developmental Disabilities ISO RGD:1354198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:30311386 11850794 LIFR LIF receptor subunit alpha gene DOID:9008909 Stuve-Wiedemann Syndrome 1 ISO RGD:1354198 D RGD:7240710 20180130 OMIM 11850794 LIFR LIF receptor subunit alpha gene DOID:9008909 Stuve-Wiedemann Syndrome 1 ISO RGD:1354198 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Stüve-Wiedemann syndrome | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1 PMID:14740318|PMID:16199547|PMID:24477277|PMID:25741868|PMID:25868946|PMID:26627873|PMID:28334964|PMID:28492532|PMID:30919572|PMID:34063511|PMID:34426522 11850825 EEF1A1 eukaryotic translation elongation factor 1 alpha 1 gene DOID:0080600 COVID-19 ISO RGD:68966 D RGD:9068941 20200709 RGD mRNA:decreased expression:antibody secreting B cells (human) PMID:32377375|REF_RGD_ID:32716422 11850825 EEF1A1 eukaryotic translation elongation factor 1 alpha 1 gene DOID:305 carcinoma ISO RGD:68966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11850825 EEF1A1 eukaryotic translation elongation factor 1 alpha 1 gene DOID:3659 sialuria ISO RGD:68966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 11850825 EEF1A1 eukaryotic translation elongation factor 1 alpha 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:68966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 11850825 EEF1A1 eukaryotic translation elongation factor 1 alpha 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:68966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11850825 EEF1A1 eukaryotic translation elongation factor 1 alpha 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:67387 D RGD:9068941 20200609 RGD PMID:25435813|REF_RGD_ID:13506963 11850825 EEF1A1 eukaryotic translation elongation factor 1 alpha 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:68966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11850825 EEF1A1 eukaryotic translation elongation factor 1 alpha 1 gene DOID:9007730 Burns ISO RGD:67387 D RGD:9068941 20200609 RGD protein:decreased expression:heart,mitochondrion: PMID:23041468|REF_RGD_ID:10401126 11850852 GLMN glomulin, FKBP associated protein gene DOID:11294 arteriovenous malformation ISO RGD:1315584 D RGD:9068941 20200609 RGD glomuvenous malformations PMID:11845407|REF_RGD_ID:1598992 11850852 GLMN glomulin, FKBP associated protein gene DOID:2431 glomus tumor ISO RGD:1315584 D RGD:9068941 20200609 RGD glomuvenous malformations PMID:11845407|REF_RGD_ID:1598992 11850852 GLMN glomulin, FKBP associated protein gene DOID:630 genetic disease ISO RGD:1315584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850852 GLMN glomulin, FKBP associated protein gene DOID:7996 familial glomangioma ISO RGD:1315584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial glomangioma PMID:11175297|PMID:11845407|PMID:15689436|PMID:23375657|PMID:23801931|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28655553 11850852 GLMN glomulin, FKBP associated protein gene DOID:9002428 Blue Rubber Bleb Nevus Syndrome ISO RGD:1315584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bean syndrome | ClinVar Annotator: match by term: Blue rubber bleb nevus 11850852 GLMN glomulin, FKBP associated protein gene DOID:9003557 Glomus Vagale Tumors ISO RGD:1315584 D RGD:7240710 20190315 OMIM 11850852 GLMN glomulin, FKBP associated protein gene DOID:9003557 Glomus Vagale Tumors ISO RGD:1315584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glomuvenous malformations | ClinVar Annotator: match by term: VENOUS MALFORMATIONS WITH GLOMUS CELLS PMID:11175297|PMID:11845407|PMID:15689436|PMID:23375657|PMID:23801931|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28655553 11850930 ARL5C ADP ribosylation factor like GTPase 5C gene DOID:630 genetic disease ISO RGD:1316723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850939 CLEC9A C-type lectin domain containing 9A gene DOID:630 genetic disease ISO RGD:1343177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850952 LYRM1 LYR motif containing 1 gene DOID:630 genetic disease ISO RGD:1601746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850990 ERO1A endoplasmic reticulum oxidoreductase 1 alpha gene DOID:630 genetic disease ISO RGD:1317870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11850990 ERO1A endoplasmic reticulum oxidoreductase 1 alpha gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:621713 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:12694393|REF_RGD_ID:632668 11851010 PYGO1 pygopus family PHD finger 1 gene DOID:2717 Bloom syndrome ISO RGD:1346093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11851010 PYGO1 pygopus family PHD finger 1 gene DOID:630 genetic disease ISO RGD:1346093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851010 PYGO1 pygopus family PHD finger 1 gene DOID:9256 colorectal cancer ISO RGD:1346093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11851016 KCNK12 potassium two pore domain channel subfamily K member 12 gene DOID:0070271 Lynch syndrome 1 ISO RGD:68984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 11851016 KCNK12 potassium two pore domain channel subfamily K member 12 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:68984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 11851016 KCNK12 potassium two pore domain channel subfamily K member 12 gene DOID:3883 Lynch syndrome ISO RGD:68984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:18269114|PMID:24323032|PMID:24362816|PMID:28135145|PMID:28492532 11851016 KCNK12 potassium two pore domain channel subfamily K member 12 gene DOID:630 genetic disease ISO RGD:68984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851016 KCNK12 potassium two pore domain channel subfamily K member 12 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:68984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:24728327|PMID:25741868 11851024 REX1BD required for excision 1-B domain containing gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1605988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11851041 GOPC golgi associated PDZ and coiled-coil motif containing gene DOID:0060163 body dysmorphic disorder ISO RGD:1319891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 11851041 GOPC golgi associated PDZ and coiled-coil motif containing gene DOID:0060224 atrial fibrillation ISO RGD:1319891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 11851041 GOPC golgi associated PDZ and coiled-coil motif containing gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1319891 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 11851041 GOPC golgi associated PDZ and coiled-coil motif containing gene DOID:1059 intellectual disability ISO RGD:1319891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 11851041 GOPC golgi associated PDZ and coiled-coil motif containing gene DOID:10907 microcephaly ISO RGD:1319891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 11851041 GOPC golgi associated PDZ and coiled-coil motif containing gene DOID:12849 autistic disorder ISO RGD:1319891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:24824130 11851041 GOPC golgi associated PDZ and coiled-coil motif containing gene DOID:14227 azoospermia ISO RGD:1551284 D RGD:9068941 20220825 MouseDO OMIM:102530 | OMIM:108420 | OMIM:243060 | OMIM:258150 | OMIM:270960 | OMIM:309120 | OMIM:415000 | OMIM:606766 | OMIM:612997 | OMIM:613957 | OMIM:613958 | OMIM:614822 | OMIM:615081 | OMIM:615413 | OMIM:615841 | OMIM:615842 11851041 GOPC golgi associated PDZ and coiled-coil motif containing gene DOID:1826 epilepsy ISO RGD:1319891 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11851041 GOPC golgi associated PDZ and coiled-coil motif containing gene DOID:1909 melanoma ISO RGD:1319891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11851041 GOPC golgi associated PDZ and coiled-coil motif containing gene DOID:630 genetic disease ISO RGD:1319891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851041 GOPC golgi associated PDZ and coiled-coil motif containing gene DOID:9000495 Tremor ISO RGD:1319891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 11851055 ZMAT2 zinc finger matrin-type 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1353598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11851055 ZMAT2 zinc finger matrin-type 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11851055 ZMAT2 zinc finger matrin-type 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11851055 ZMAT2 zinc finger matrin-type 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11851065 TCF12 transcription factor 12 gene DOID:2340 craniosynostosis ISO RGD:731955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23354436 11851065 TCF12 transcription factor 12 gene DOID:2717 Bloom syndrome ISO RGD:731955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11851065 TCF12 transcription factor 12 gene DOID:3614 Kallmann syndrome ISO RGD:731955 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypogonadism with anosmia PMID:25741868|PMID:32629054 11851065 TCF12 transcription factor 12 gene DOID:630 genetic disease ISO RGD:731955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:31754721 11851065 TCF12 transcription factor 12 gene DOID:9002666 Hypogonadotropic Hypogonadism 26 with or without Anosmia ISO RGD:731955 D RGD:7240710 20220202 OMIM 11851065 TCF12 transcription factor 12 gene DOID:9002666 Hypogonadotropic Hypogonadism 26 with or without Anosmia ISO RGD:731955 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 26 with or without anosmia PMID:23354436|PMID:25741868|PMID:28492532|PMID:32620954 11851065 TCF12 transcription factor 12 gene DOID:9002862 Craniosynostosis 3 ISO RGD:731955 D RGD:7240710 20180130 OMIM 11851065 TCF12 transcription factor 12 gene DOID:9002862 Craniosynostosis 3 ISO RGD:731955 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Coronal craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 3 PMID:23354436|PMID:24736737|PMID:25271085|PMID:25741868|PMID:28492532|PMID:28808027|PMID:29215649|PMID:30038786|PMID:32620954|PMID:34906502 11851065 TCF12 transcription factor 12 gene DOID:9008086 Developmental Disabilities ISO RGD:731955 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay PMID:36937954 11851065 TCF12 transcription factor 12 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:731955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:30038786|PMID:31837199 11851065 TCF12 transcription factor 12 gene DOID:9008582 Developmental Disease ISO RGD:731955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11851065 TCF12 transcription factor 12 gene DOID:9256 colorectal cancer ISO RGD:731955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11851106 RAB6A RAB6A, member RAS oncogene family gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1320484 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11851106 RAB6A RAB6A, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1320484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11851106 RAB6A RAB6A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1320484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851121 IVL involucrin gene DOID:0111940 immunodeficiency 42 ISO RGD:1314662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11851121 IVL involucrin gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11851121 IVL involucrin gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11851121 IVL involucrin gene DOID:1540 parathyroid carcinoma ISO RGD:1314662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11851121 IVL involucrin gene DOID:1749 squamous cell carcinoma ISO RGD:1314662 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 11851121 IVL involucrin gene DOID:5812 MHC class II deficiency ISO RGD:1314662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11851121 IVL involucrin gene DOID:630 genetic disease ISO RGD:1314662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851121 IVL involucrin gene DOID:9004464 Skin Neoplasms ISO RGD:1314662 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 11851121 IVL involucrin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11851127 LTN1 listerin E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1322590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851127 LTN1 listerin E3 ubiquitin protein ligase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11851165 PEX3 peroxisomal biogenesis factor 3 gene DOID:0050444 infantile Refsum disease ISO RGD:1352714 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL 11851165 PEX3 peroxisomal biogenesis factor 3 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1352714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10942428 11851165 PEX3 peroxisomal biogenesis factor 3 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1352714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) PMID:10958759|PMID:10968777|PMID:25741868|PMID:7562283 11851165 PEX3 peroxisomal biogenesis factor 3 gene DOID:0080484 peroxisome biogenesis disorder 10A ISO RGD:1352714 D RGD:7240710 20180130 OMIM 11851165 PEX3 peroxisomal biogenesis factor 3 gene DOID:0080484 peroxisome biogenesis disorder 10A ISO RGD:1352714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 10A (Zellweger) PMID:10942428|PMID:10958759|PMID:10968777|PMID:21031596|PMID:25741868|PMID:28492532|PMID:7562283 11851165 PEX3 peroxisomal biogenesis factor 3 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1352714 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:28492532 11851165 PEX3 peroxisomal biogenesis factor 3 gene DOID:630 genetic disease ISO RGD:1352714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11851165 PEX3 peroxisomal biogenesis factor 3 gene DOID:9006868 Peroxisome Biogenesis Disorder 10B ISO RGD:1352714 D RGD:7240710 20190315 OMIM 11851165 PEX3 peroxisomal biogenesis factor 3 gene DOID:9006868 Peroxisome Biogenesis Disorder 10B ISO RGD:1352714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 10B PMID:25741868|PMID:27557811|PMID:28492532 11851165 PEX3 peroxisomal biogenesis factor 3 gene DOID:905 Zellweger syndrome ISO RGD:1352714 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum 11851181 UBXN8 UBX domain protein 8 gene DOID:630 genetic disease ISO RGD:1603319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851196 SNTG1 syntrophin gamma 1 gene DOID:630 genetic disease ISO RGD:1347731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851220 SSMEM1 serine rich single-pass membrane protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11851220 SSMEM1 serine rich single-pass membrane protein 1 gene DOID:630 genetic disease ISO RGD:1604235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851226 CCDC89 coiled-coil domain containing 89 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1602421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 11851226 CCDC89 coiled-coil domain containing 89 gene DOID:1059 intellectual disability ISO RGD:1602421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11851226 CCDC89 coiled-coil domain containing 89 gene DOID:630 genetic disease ISO RGD:1602421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851245 FAM124A family with sequence similarity 124 member A gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1602826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11851245 FAM124A family with sequence similarity 124 member A gene DOID:1059 intellectual disability ISO RGD:1602826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11851245 FAM124A family with sequence similarity 124 member A gene DOID:630 genetic disease ISO RGD:1602826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851245 FAM124A family with sequence similarity 124 member A gene DOID:893 Wilson disease ISO RGD:1602826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:28492532 11851253 GAS8 growth arrest specific 8 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1317230 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 11851253 GAS8 growth arrest specific 8 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1317230 D RGD:7240710 20190315 OMIM 11851253 GAS8 growth arrest specific 8 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1317230 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:16199547|PMID:17576681|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26387594|PMID:27472056|PMID:28492532|PMID:9536098 11851253 GAS8 growth arrest specific 8 gene DOID:12849 autistic disorder ISO RGD:1317230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 11851253 GAS8 growth arrest specific 8 gene DOID:13636 Fanconi anemia ISO RGD:1317230 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 11851253 GAS8 growth arrest specific 8 gene DOID:630 genetic disease ISO RGD:1317230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11851253 GAS8 growth arrest specific 8 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317230 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 11851287 ZFP37 ZFP37 zinc finger protein gene DOID:630 genetic disease ISO RGD:736935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851287 ZFP37 ZFP37 zinc finger protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11851300 TTC5 tetratricopeptide repeat domain 5 gene DOID:630 genetic disease ISO RGD:1322658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851300 TTC5 tetratricopeptide repeat domain 5 gene DOID:9001167 NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM ISO RGD:1322658 D RGD:7240710 20210519 OMIM 11851300 TTC5 tetratricopeptide repeat domain 5 gene DOID:9001167 NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM ISO RGD:1322658 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism PMID:25741868|PMID:29302074|PMID:32439809 11851323 SIPA1 signal-induced proliferation-associated 1 gene DOID:10485 esophageal atresia ISO RGD:1346963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 11851323 SIPA1 signal-induced proliferation-associated 1 gene DOID:1059 intellectual disability ISO RGD:1346963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11851323 SIPA1 signal-induced proliferation-associated 1 gene DOID:1909 melanoma ISO RGD:1346963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11851323 SIPA1 signal-induced proliferation-associated 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1346963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11851323 SIPA1 signal-induced proliferation-associated 1 gene DOID:2746 glycogen storage disease V ISO RGD:1346963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11851323 SIPA1 signal-induced proliferation-associated 1 gene DOID:3070 high grade glioma ISO RGD:1346963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11851323 SIPA1 signal-induced proliferation-associated 1 gene DOID:630 genetic disease ISO RGD:1346963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851323 SIPA1 signal-induced proliferation-associated 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:1553084 D RGD:9068941 20220825 MouseDO OMIM:608232 11851323 SIPA1 signal-induced proliferation-associated 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1346963 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11851323 SIPA1 signal-induced proliferation-associated 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1346963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 11851344 CAPN7 calpain 7 gene DOID:0060417 3p deletion syndrome ISO RGD:1312532 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 11851344 CAPN7 calpain 7 gene DOID:630 genetic disease ISO RGD:1312532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851378 NSMCE3 NSE3 homolog, SMC5-SMC6 complex component gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1319419 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:31690835 11851378 NSMCE3 NSE3 homolog, SMC5-SMC6 complex component gene DOID:1059 intellectual disability ISO RGD:1319419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11851378 NSMCE3 NSE3 homolog, SMC5-SMC6 complex component gene DOID:12849 autistic disorder ISO RGD:1319419 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 11851378 NSMCE3 NSE3 homolog, SMC5-SMC6 complex component gene DOID:1932 Angelman syndrome ISO RGD:1319419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome 11851378 NSMCE3 NSE3 homolog, SMC5-SMC6 complex component gene DOID:5419 schizophrenia ISO RGD:1319419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11851378 NSMCE3 NSE3 homolog, SMC5-SMC6 complex component gene DOID:630 genetic disease ISO RGD:1319419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11851378 NSMCE3 NSE3 homolog, SMC5-SMC6 complex component gene DOID:9001610 Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome ISO RGD:1319419 D RGD:7240710 20190315 OMIM 11851378 NSMCE3 NSE3 homolog, SMC5-SMC6 complex component gene DOID:9001610 Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome ISO RGD:1319419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung disease, immunodeficiency, and chromosome breakage syndrome PMID:20864041|PMID:25741868|PMID:27427983|PMID:28492532 11851398 MEF2A myocyte enhancer factor 2A gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1322126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 11851398 MEF2A myocyte enhancer factor 2A gene DOID:12930 dilated cardiomyopathy ISO RGD:1322126 D RGD:9068941 20200609 RGD PMID:16469744|REF_RGD_ID:1580546 11851398 MEF2A myocyte enhancer factor 2A gene DOID:630 genetic disease ISO RGD:1322126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851398 MEF2A myocyte enhancer factor 2A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1359360 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:18413674|REF_RGD_ID:2312263 11851398 MEF2A myocyte enhancer factor 2A gene DOID:9007440 Coronary Artery Disease, Autosomal Dominant 1 ISO RGD:1322126 D RGD:7240710 20180130 OMIM 11851398 MEF2A myocyte enhancer factor 2A gene DOID:9007440 Coronary Artery Disease, Autosomal Dominant 1 ISO RGD:1322126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease, autosomal dominant, 1 | ClinVar Annotator: match by term: Coronary artery disease/myocardial infarction PMID:14645853|PMID:15496429|PMID:15841183 11851451 MPP1 MAGUK p55 scaffold protein 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1347904 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11851451 MPP1 MAGUK p55 scaffold protein 1 gene DOID:0050476 Barth syndrome ISO RGD:1347904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11851451 MPP1 MAGUK p55 scaffold protein 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:1347904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11851451 MPP1 MAGUK p55 scaffold protein 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1347904 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11851451 MPP1 MAGUK p55 scaffold protein 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1347904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11851451 MPP1 MAGUK p55 scaffold protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1347904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11851451 MPP1 MAGUK p55 scaffold protein 1 gene DOID:12134 factor VIII deficiency ISO RGD:1347904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Factor VIII deficiency, congenital PMID:2105106 11851451 MPP1 MAGUK p55 scaffold protein 1 gene DOID:12849 autistic disorder ISO RGD:1347904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11851451 MPP1 MAGUK p55 scaffold protein 1 gene DOID:13628 favism ISO RGD:1347904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11851451 MPP1 MAGUK p55 scaffold protein 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1347904 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11851451 MPP1 MAGUK p55 scaffold protein 1 gene DOID:299 adenocarcinoma ISO RGD:1347904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 11851451 MPP1 MAGUK p55 scaffold protein 1 gene DOID:607 paraplegia ISO RGD:1347904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11851451 MPP1 MAGUK p55 scaffold protein 1 gene DOID:630 genetic disease ISO RGD:1347904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851451 MPP1 MAGUK p55 scaffold protein 1 gene DOID:9002720 Splenomegaly ISO RGD:1347904 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11851451 MPP1 MAGUK p55 scaffold protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1347904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 11851467 ATXN2L ataxin 2 like gene DOID:0050692 Brody myopathy ISO RGD:1604832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brody myopathy PMID:17882224|PMID:24707176|PMID:28492532 11851467 ATXN2L ataxin 2 like gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1604832 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 11851467 ATXN2L ataxin 2 like gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 11851467 ATXN2L ataxin 2 like gene DOID:5419 schizophrenia ISO RGD:1604832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11851467 ATXN2L ataxin 2 like gene DOID:630 genetic disease ISO RGD:1604832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851467 ATXN2L ataxin 2 like gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1604832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 11851467 ATXN2L ataxin 2 like gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1604832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11851494 PFN3 profilin 3 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11851494 PFN3 profilin 3 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1604471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11851494 PFN3 profilin 3 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1604471 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 11851494 PFN3 profilin 3 gene DOID:630 genetic disease ISO RGD:1604471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851494 PFN3 profilin 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1604471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11851499 CKB creatine kinase B gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:730974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11851499 CKB creatine kinase B gene DOID:299 adenocarcinoma ISO RGD:730974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 11851499 CKB creatine kinase B gene DOID:5409 lung small cell carcinoma ISO RGD:730974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2828370 11851499 CKB creatine kinase B gene DOID:5426 primary ovarian insufficiency ISO RGD:730974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 11851499 CKB creatine kinase B gene DOID:5844 myocardial infarction ISO RGD:730974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12359538 11851499 CKB creatine kinase B gene DOID:630 genetic disease ISO RGD:730974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851499 CKB creatine kinase B gene DOID:9000217 Stomach Neoplasms ISO RGD:730974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 11851499 CKB creatine kinase B gene DOID:9001686 Acute Coronary Syndrome ISO RGD:730974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15966572 11851499 CKB creatine kinase B gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:730974 D RGD:9068941 20200609 RGD PMID:12039490|REF_RGD_ID:1598441 11851499 CKB creatine kinase B gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:730974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 11851499 CKB creatine kinase B gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:730974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11406506 11851499 CKB creatine kinase B gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11851507 TRPM3 transient receptor potential cation channel subfamily M member 3 gene DOID:0050436 mulibrey nanism ISO RGD:1312585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Perheentupa syndrome PMID:25741868|PMID:29539642|PMID:31278393|PMID:32343227|PMID:32439617|PMID:34438093|PMID:35146895 11851507 TRPM3 transient receptor potential cation channel subfamily M member 3 gene DOID:0050675 Birk-Barel syndrome ISO RGD:1312585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mental retardation with hypotonia and facial dysmorphism PMID:25741868|PMID:29539642|PMID:31278393|PMID:32343227|PMID:32439617|PMID:34438093|PMID:35146895 11851507 TRPM3 transient receptor potential cation channel subfamily M member 3 gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:1312585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability PMID:25741868|PMID:29539642|PMID:31278393|PMID:32343227|PMID:32439617|PMID:34438093|PMID:35146895 11851507 TRPM3 transient receptor potential cation channel subfamily M member 3 gene DOID:10283 prostate cancer ISO RGD:1312585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11851507 TRPM3 transient receptor potential cation channel subfamily M member 3 gene DOID:1059 intellectual disability ISO RGD:1312585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:29539642|PMID:31278393|PMID:32343227|PMID:32439617|PMID:34438093|PMID:35146895 11851507 TRPM3 transient receptor potential cation channel subfamily M member 3 gene DOID:10629 microphthalmia ISO RGD:1312586 D RGD:9068941 20220825 MouseDO 11851507 TRPM3 transient receptor potential cation channel subfamily M member 3 gene DOID:1826 epilepsy ISO RGD:1312585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:29539642|PMID:31278393|PMID:32343227|PMID:32439617|PMID:34438093|PMID:35146895 11851507 TRPM3 transient receptor potential cation channel subfamily M member 3 gene DOID:630 genetic disease ISO RGD:1312585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851507 TRPM3 transient receptor potential cation channel subfamily M member 3 gene DOID:670 amphetamine abuse ISO RGD:1312585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11851507 TRPM3 transient receptor potential cation channel subfamily M member 3 gene DOID:83 cataract ISO RGD:1312586 D RGD:9068941 20220825 MouseDO OMIM:601371 11851507 TRPM3 transient receptor potential cation channel subfamily M member 3 gene DOID:9001283 RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT ISO RGD:1312585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy and iris coloboma with or without congenital cataract PMID:26056285|PMID:28492532 11851507 TRPM3 transient receptor potential cation channel subfamily M member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312585 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:31278393|PMID:32427099 11851507 TRPM3 transient receptor potential cation channel subfamily M member 3 gene DOID:9006366 Cataract 50 with or without Glaucoma ISO RGD:1312585 D RGD:7240710 20230505 OMIM 11851507 TRPM3 transient receptor potential cation channel subfamily M member 3 gene DOID:9006366 Cataract 50 with or without Glaucoma ISO RGD:1312585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cataract 50 with or without glaucoma PMID:25090642 11851507 TRPM3 transient receptor potential cation channel subfamily M member 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1312585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:29539642|PMID:31278393|PMID:32343227|PMID:32439617|PMID:34438093|PMID:35146895 11851507 TRPM3 transient receptor potential cation channel subfamily M member 3 gene DOID:9008582 Developmental Disease ISO RGD:1312585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11851537 ADAP1 ArfGAP with dual PH domains 1 gene DOID:630 genetic disease ISO RGD:733651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851564 CCDC85B coiled-coil domain containing 85B gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1605406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 11851564 CCDC85B coiled-coil domain containing 85B gene DOID:1059 intellectual disability ISO RGD:1605406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11851564 CCDC85B coiled-coil domain containing 85B gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605406 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11851564 CCDC85B coiled-coil domain containing 85B gene DOID:2746 glycogen storage disease V ISO RGD:1605406 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11851564 CCDC85B coiled-coil domain containing 85B gene DOID:630 genetic disease ISO RGD:1605406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851564 CCDC85B coiled-coil domain containing 85B gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1605406 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11851564 CCDC85B coiled-coil domain containing 85B gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1605406 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11851589 BHLHE23 basic helix-loop-helix family member e23 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11851589 BHLHE23 basic helix-loop-helix family member e23 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1346145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11851589 BHLHE23 basic helix-loop-helix family member e23 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1346145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11851589 BHLHE23 basic helix-loop-helix family member e23 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1346145 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11851589 BHLHE23 basic helix-loop-helix family member e23 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11851589 BHLHE23 basic helix-loop-helix family member e23 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1346145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 11851589 BHLHE23 basic helix-loop-helix family member e23 gene DOID:630 genetic disease ISO RGD:1346145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851628 CDC6 cell division cycle 6 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1319341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 11851628 CDC6 cell division cycle 6 gene DOID:0080516 Meier-Gorlin syndrome 5 ISO RGD:1319341 D RGD:7240710 20190424 OMIM 11851628 CDC6 cell division cycle 6 gene DOID:0080516 Meier-Gorlin syndrome 5 ISO RGD:1319341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 5 PMID:11477602|PMID:18414213|PMID:21358632|PMID:25741868|PMID:28492532 11851628 CDC6 cell division cycle 6 gene DOID:0080600 COVID-19 ISO RGD:1319341 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11851628 CDC6 cell division cycle 6 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1319341 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 11851628 CDC6 cell division cycle 6 gene DOID:10907 microcephaly ISO RGD:1319341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11851628 CDC6 cell division cycle 6 gene DOID:11612 polycystic ovary syndrome ISO RGD:1319341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11851628 CDC6 cell division cycle 6 gene DOID:630 genetic disease ISO RGD:1319341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11851628 CDC6 cell division cycle 6 gene DOID:684 hepatocellular carcinoma ISO RGD:1319341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11851644 DLX2 distal-less homeobox 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1312529 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11851644 DLX2 distal-less homeobox 2 gene DOID:12849 autistic disorder ISO RGD:1312529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18728693 11851644 DLX2 distal-less homeobox 2 gene DOID:630 genetic disease ISO RGD:1312529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851644 DLX2 distal-less homeobox 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1312529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9187081 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:0050855 renal fibrosis ISO RGD:1553522 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney cortex: PMID:22342673|REF_RGD_ID:7245951 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:0060180 colitis ISO RGD:708425 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney: PMID:23307618|REF_RGD_ID:7245473 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1352552 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:10763 hypertension ISO RGD:708425 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:23085980|REF_RGD_ID:7245484 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:10825 essential hypertension ISO RGD:1352552 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:22923545|REF_RGD_ID:7245500 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:11111 hydronephrosis ISO RGD:1352552 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:21279810|REF_RGD_ID:7245985 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:12556 acute kidney tubular necrosis ISO RGD:1352552 D RGD:9068941 20200609 RGD protein:increased expression:kidney tubule, urine: PMID:12081583|REF_RGD_ID:7245970 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1352552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19225054 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:1591 renovascular hypertension ISO RGD:1352552 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:22923545|REF_RGD_ID:7245500 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:1920 hyperuricemia ISO RGD:1352552 D RGD:9068941 20200609 RGD PMID:23673972|REF_RGD_ID:7244371 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:1352552 D RGD:9068941 20200609 RGD PMID:15153541|REF_RGD_ID:5128853 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:2527 nephrosis ISO RGD:708425 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:17213874|REF_RGD_ID:7246891 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:2841 asthma ISO RGD:1352552 D RGD:9068941 20200609 RGD PMID:20628202|REF_RGD_ID:5128851 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1352552 D RGD:9068941 20200609 RGD PMID:23135864|REF_RGD_ID:7245479 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1352552 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:21467131|REF_RGD_ID:7245983 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:3021 acute kidney failure ISO RGD:1352552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20118187|PMID:21259293|PMID:21835770|PMID:22005293|PMID:23052191|PMID:23845967|PMID:24189134|PMID:24361871|PMID:24958931|PMID:28885000 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:3021 acute kidney failure ISO RGD:1352552 D RGD:9068941 20200609 RGD associated with Pyelonephritis;protein:increased expression:urine: PMID:23319831|REF_RGD_ID:7245472 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:3021 acute kidney failure ISO RGD:1553522 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:23019274|REF_RGD_ID:7245495 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:3021 acute kidney failure ISO RGD:708425 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:23683031|REF_RGD_ID:7244370 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:3310 atopic dermatitis ISO RGD:1352552 D RGD:9068941 20200609 RGD PMID:16159638|REF_RGD_ID:5128852 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1352552 D RGD:9068941 20200609 RGD PMID:23352434|REF_RGD_ID:7245470 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:5199 ureteral obstruction ISO RGD:1553522 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney tubule: PMID:22257277|REF_RGD_ID:7245953 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:557 kidney disease ISO RGD:1352552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19349640|PMID:20181666|PMID:20438795|PMID:21888673|PMID:23019274|PMID:24863737|PMID:24880025 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:557 kidney disease disease_progression ISO RGD:1352552 D RGD:9068941 20200609 RGD associated with Antineutrophil Cytoplasmic Antibody-associated Vasculitis; PMID:23547217|REF_RGD_ID:7244373 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:576 proteinuria ISO RGD:1352552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19225054 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:576 proteinuria ISO RGD:708425 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney,urine PMID:16467126|REF_RGD_ID:7245980 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:630 genetic disease ISO RGD:1352552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352552 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:784 chronic kidney disease ISO RGD:1352552 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:33052911 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:784 chronic kidney disease ISO RGD:708425 D RGD:9068941 20200609 RGD PMID:22269876|REF_RGD_ID:7245952 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1553522 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:12388382|REF_RGD_ID:7245969 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9000884 Rhabdomyolysis ISO RGD:708425 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:22937747|REF_RGD_ID:7245499 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9001542 Albuminuria ISO RGD:1352552 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;protein:increased expression:urine: PMID:21630304|REF_RGD_ID:7245982 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1352552 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus,Type 2;protein:increased expression:urine: PMID:22015481|REF_RGD_ID:7245960 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:708425 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22997966|REF_RGD_ID:7245497 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:1352552 D RGD:9068941 20200609 RGD associated with Diabetes mellitus, Type 1; PMID:20980978|REF_RGD_ID:7246890 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9004283 Transplant Rejection ISO RGD:1352552 D RGD:9068941 20200609 RGD PMID:23435265|REF_RGD_ID:7244382 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9004484 Sepsis disease_progression ISO RGD:1352552 D RGD:9068941 20200609 RGD PMID:23131280|REF_RGD_ID:7245480 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9004912 Hyperoxaluria ISO RGD:708425 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney, urine PMID:22984472|REF_RGD_ID:7245498 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:708425 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:23335628|REF_RGD_ID:7245471 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9005749 Necrosis ISO RGD:1352552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24880025 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1352552 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:23085062|REF_RGD_ID:7245489 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1553522 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:23019274|REF_RGD_ID:7245495 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:708425 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:23552495|REF_RGD_ID:7244372 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1352552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15805072|PMID:24361871|PMID:28885000 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9007325 Cardio-Renal Syndrome ISO RGD:708425 D RGD:9068941 20200609 RGD protein:increased expression:kidney tubule: PMID:22367506|REF_RGD_ID:7245950 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9007325 Cardio-Renal Syndrome susceptibility ISO RGD:1352552 D RGD:9068941 20200609 RGD PMID:23220287|REF_RGD_ID:7245477 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9008727 Ige Responsiveness, Atopic ISO RGD:1352552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: IgE responsiveness, atopic PMID:14534576|PMID:21339644 11851652 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9620 vesicoureteral reflux ISO RGD:1352552 D RGD:9068941 20200609 RGD PMID:23200959|REF_RGD_ID:7245478 11851673 NT5C3A 5'-nucleotidase, cytosolic IIIA gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1323774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16380913|PMID:20177705|PMID:28492532 11851673 NT5C3A 5'-nucleotidase, cytosolic IIIA gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:1323774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16672222 11851673 NT5C3A 5'-nucleotidase, cytosolic IIIA gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11851673 NT5C3A 5'-nucleotidase, cytosolic IIIA gene DOID:630 genetic disease ISO RGD:1323774 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11851673 NT5C3A 5'-nucleotidase, cytosolic IIIA gene DOID:9001341 Chloracne ISO RGD:1323774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 11851673 NT5C3A 5'-nucleotidase, cytosolic IIIA gene DOID:9004820 Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to ISO RGD:1323774 D RGD:7240710 20180130 OMIM 11851673 NT5C3A 5'-nucleotidase, cytosolic IIIA gene DOID:9004820 Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to ISO RGD:1323774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: UMPH1 DEFICIENCY | ClinVar Annotator: match by term: Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to PMID:11369620|PMID:12714505|PMID:12930399|PMID:15238149|PMID:25741868|PMID:28492532|PMID:6310729 11851697 ODAD4 outer dynein arm docking complex subunit 4 gene DOID:0050545 visceral heterotaxy ISO RGD:1606214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Situs ambiguus 11851697 ODAD4 outer dynein arm docking complex subunit 4 gene DOID:0110620 primary ciliary dyskinesia 35 ISO RGD:1606214 D RGD:7240710 20190315 OMIM 11851697 ODAD4 outer dynein arm docking complex subunit 4 gene DOID:0110620 primary ciliary dyskinesia 35 ISO RGD:1606214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 35 PMID:25741868|PMID:27486780 11851697 ODAD4 outer dynein arm docking complex subunit 4 gene DOID:630 genetic disease ISO RGD:1606214 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851697 ODAD4 outer dynein arm docking complex subunit 4 gene DOID:758 situs inversus ISO RGD:1606214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence 11851713 CER1 cerberus 1, DAN family BMP antagonist gene DOID:630 genetic disease ISO RGD:1347243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851713 CER1 cerberus 1, DAN family BMP antagonist gene DOID:9002407 Spinal Fractures susceptibility ISO RGD:1347243 D RGD:9068941 20200716 RGD DNA:SNPs: :rs3747532, rs1494360(human) PMID:19113921|REF_RGD_ID:35673321 11851719 IL5RA interleukin 5 receptor subunit alpha gene DOID:0080600 COVID-19 ISO RGD:735921 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11851719 IL5RA interleukin 5 receptor subunit alpha gene DOID:0080600 COVID-19 ISO RGD:735921 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11851719 IL5RA interleukin 5 receptor subunit alpha gene DOID:1205 allergic disease ISO RGD:735921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11851719 IL5RA interleukin 5 receptor subunit alpha gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:735921 D RGD:9068941 20200609 RGD protein:decreased expression:blood, eosinophil PMID:16734609|REF_RGD_ID:5128618 11851719 IL5RA interleukin 5 receptor subunit alpha gene DOID:2841 asthma ISO RGD:735921 D RGD:9068941 20200609 RGD PMID:10224351|PMID:20513521|REF_RGD_ID:5128623|REF_RGD_ID:5128625 11851719 IL5RA interleukin 5 receptor subunit alpha gene DOID:2841 asthma ISO RGD:735921 D RGD:9068941 20200609 RGD DNA:SNP: :c.25091G>A (human) PMID:20592918|REF_RGD_ID:5128614 11851719 IL5RA interleukin 5 receptor subunit alpha gene DOID:2841 asthma ISO RGD:735921 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:16217591|REF_RGD_ID:5128626 11851719 IL5RA interleukin 5 receptor subunit alpha gene DOID:2841 asthma ISO RGD:735922 D RGD:9068941 20200609 RGD PMID:10848907|PMID:17276963|REF_RGD_ID:5128617|REF_RGD_ID:5128627 11851719 IL5RA interleukin 5 receptor subunit alpha gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735921 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15286446|REF_RGD_ID:5128619 11851719 IL5RA interleukin 5 receptor subunit alpha gene DOID:350 mastocytosis ISO RGD:735921 D RGD:9068941 20200609 RGD PMID:21762978|REF_RGD_ID:11354970 11851719 IL5RA interleukin 5 receptor subunit alpha gene DOID:552 pneumonia ISO RGD:735921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11851719 IL5RA interleukin 5 receptor subunit alpha gene DOID:630 genetic disease ISO RGD:735921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851719 IL5RA interleukin 5 receptor subunit alpha gene DOID:9001371 Eosinophilia ISO RGD:735921 D RGD:9068941 20200609 RGD PMID:21762978|REF_RGD_ID:11354970 11851719 IL5RA interleukin 5 receptor subunit alpha gene DOID:9001472 Nasal Polyps ISO RGD:735921 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucus, serum PMID:12752323|REF_RGD_ID:5128621 11851719 IL5RA interleukin 5 receptor subunit alpha gene DOID:9003281 Spontaneous Abortions ISO RGD:735921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11851719 IL5RA interleukin 5 receptor subunit alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11851751 BAG4 BAG cochaperone 4 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1350570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 11851751 BAG4 BAG cochaperone 4 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1350570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 11851751 BAG4 BAG cochaperone 4 gene DOID:1793 pancreatic cancer ISO RGD:1350570 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:10799310|REF_RGD_ID:2325852 11851751 BAG4 BAG cochaperone 4 gene DOID:607 paraplegia ISO RGD:1350570 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11851751 BAG4 BAG cochaperone 4 gene DOID:630 genetic disease ISO RGD:1350570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851761 FGFBP1 fibroblast growth factor binding protein 1 gene DOID:0050777 Joubert syndrome ISO RGD:1350352 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11851761 FGFBP1 fibroblast growth factor binding protein 1 gene DOID:630 genetic disease ISO RGD:1350352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851767 CFAP46 cilia and flagella associated protein 46 gene DOID:0050545 visceral heterotaxy ISO RGD:1350822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Situs ambiguus 11851767 CFAP46 cilia and flagella associated protein 46 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1350822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11851767 CFAP46 cilia and flagella associated protein 46 gene DOID:630 genetic disease ISO RGD:1350822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851767 CFAP46 cilia and flagella associated protein 46 gene DOID:758 situs inversus ISO RGD:1350822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence 11851839 THSD1 thrombospondin type 1 domain containing 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1315930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11851839 THSD1 thrombospondin type 1 domain containing 1 gene DOID:0080975 intracranial berry aneurysm 12 ISO RGD:1315930 D RGD:7240710 20200226 OMIM 11851839 THSD1 thrombospondin type 1 domain containing 1 gene DOID:0080975 intracranial berry aneurysm 12 ISO RGD:1315930 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aneurysm, intracranial berry, 12 PMID:25741868|PMID:27895300 11851839 THSD1 thrombospondin type 1 domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1315930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11851839 THSD1 thrombospondin type 1 domain containing 1 gene DOID:3627 aortic aneurysm ISO RGD:1315930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm PMID:25741868|PMID:27895300 11851839 THSD1 thrombospondin type 1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1315930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851839 THSD1 thrombospondin type 1 domain containing 1 gene DOID:8725 vascular dementia ISO RGD:1315930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 11851839 THSD1 thrombospondin type 1 domain containing 1 gene DOID:9008230 Lymphatic Malformation 13 ISO RGD:1315930 D RGD:7240710 20230215 OMIM 11851839 THSD1 thrombospondin type 1 domain containing 1 gene DOID:9008230 Lymphatic Malformation 13 ISO RGD:1315930 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 13 PMID:26036949|PMID:28749478|PMID:30055085|PMID:33569873 11851839 THSD1 thrombospondin type 1 domain containing 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1315930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 11851853 PLEKHO1 pleckstrin homology domain containing O1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11851853 PLEKHO1 pleckstrin homology domain containing O1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11851853 PLEKHO1 pleckstrin homology domain containing O1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606003 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11851853 PLEKHO1 pleckstrin homology domain containing O1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11851853 PLEKHO1 pleckstrin homology domain containing O1 gene DOID:3312 bipolar disorder ISO RGD:1606003 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 11851853 PLEKHO1 pleckstrin homology domain containing O1 gene DOID:5812 MHC class II deficiency ISO RGD:1606003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11851853 PLEKHO1 pleckstrin homology domain containing O1 gene DOID:630 genetic disease ISO RGD:1606003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851853 PLEKHO1 pleckstrin homology domain containing O1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11851868 MBD3 methyl-CpG binding domain protein 3 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1316562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 11851868 MBD3 methyl-CpG binding domain protein 3 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1316562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 11851868 MBD3 methyl-CpG binding domain protein 3 gene DOID:11832 visual epilepsy ISO RGD:1307389 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:12123686|REF_RGD_ID:9587847 11851868 MBD3 methyl-CpG binding domain protein 3 gene DOID:12849 autistic disorder ISO RGD:1316562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19921286 11851868 MBD3 methyl-CpG binding domain protein 3 gene DOID:224 transient cerebral ischemia ISO RGD:1307389 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus PMID:12421618|REF_RGD_ID:9587846 11851868 MBD3 methyl-CpG binding domain protein 3 gene DOID:5339 cyclic hematopoiesis ISO RGD:1316562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11851868 MBD3 methyl-CpG binding domain protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11851888 LOC100970844 protamine-2 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:737276 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 11851888 LOC100970844 protamine-2 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:737276 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 11851888 LOC100970844 protamine-2 gene DOID:5812 MHC class II deficiency ISO RGD:737276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11851888 LOC100970844 protamine-2 gene DOID:630 genetic disease ISO RGD:737276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851894 GPRIN1 G protein regulated inducer of neurite outgrowth 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1606183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11851894 GPRIN1 G protein regulated inducer of neurite outgrowth 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1606183 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11851894 GPRIN1 G protein regulated inducer of neurite outgrowth 1 gene DOID:630 genetic disease ISO RGD:1606183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851894 GPRIN1 G protein regulated inducer of neurite outgrowth 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1606183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11851894 GPRIN1 G protein regulated inducer of neurite outgrowth 1 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1606183 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 11851899 PARM1 prostate androgen-regulated mucin-like protein 1 gene DOID:630 genetic disease ISO RGD:1604031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851899 PARM1 prostate androgen-regulated mucin-like protein 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1604031 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11851911 DEXI Dexi homolog gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1603056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 11851911 DEXI Dexi homolog gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1603056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 11851911 DEXI Dexi homolog gene DOID:5812 MHC class II deficiency ISO RGD:1603056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11851911 DEXI Dexi homolog gene DOID:630 genetic disease ISO RGD:1603056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851916 MANEAL mannosidase endo-alpha like gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1604520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11851916 MANEAL mannosidase endo-alpha like gene DOID:630 genetic disease ISO RGD:1604520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851929 CLASP1 cytoplasmic linker associated protein 1 gene DOID:0050700 cardiomyopathy ISO RGD:1322173 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26522830|PMID:28492532|PMID:28669401|PMID:32628740 11851929 CLASP1 cytoplasmic linker associated protein 1 gene DOID:0060608 microcephalic osteodysplastic primordial dwarfism type I ISO RGD:1322173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Low-birth-weight dwarfism with skeletal dysplasia | ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1 PMID:10189087|PMID:12409455|PMID:12605445|PMID:21474760|PMID:21474761|PMID:21977988|PMID:21990275|PMID:22581640|PMID:23794361|PMID:24865609|PMID:25741868|PMID:25741869|PMID:26419500|PMID:26522830|PMID:26641461|PMID:27040866|PMID:28492532|PMID:28623346|PMID:28669401|PMID:29165669|PMID:29263834|PMID:29265708|PMID:29391254|PMID:30214071|PMID:30368667|PMID:30455926|PMID:32109076|PMID:32581362|PMID:32595695|PMID:32628740|PMID:33059947 11851929 CLASP1 cytoplasmic linker associated protein 1 gene DOID:14789 spondyloepiphyseal dysplasia congenita ISO RGD:1322173 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita PMID:25741868|PMID:26522830|PMID:28492532|PMID:28669401|PMID:30368667|PMID:32628740 11851929 CLASP1 cytoplasmic linker associated protein 1 gene DOID:630 genetic disease ISO RGD:1322173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851929 CLASP1 cytoplasmic linker associated protein 1 gene DOID:9000632 Lowry Wood Syndrome ISO RGD:1322173 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MICROCEPHALY AND RETINAL DYSTROPHY | ClinVar Annotator: match by term: Lowry-Wood syndrome PMID:12605445|PMID:19288552|PMID:21474760|PMID:21474761|PMID:21977988|PMID:24865609|PMID:25735804|PMID:25741868|PMID:26522830|PMID:28492532|PMID:28669401|PMID:29165669|PMID:29265708|PMID:29391254|PMID:30368667|PMID:32581362|PMID:32628740 11851929 CLASP1 cytoplasmic linker associated protein 1 gene DOID:9002458 Roifman Syndrome ISO RGD:1322173 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Roifman syndrome PMID:10189087|PMID:21474760|PMID:21474761|PMID:21977988|PMID:22581640|PMID:24865609|PMID:25735804|PMID:25741868|PMID:26522830|PMID:27040866|PMID:28492532|PMID:28623346|PMID:28669401|PMID:29165669|PMID:29263834|PMID:29265708|PMID:29391254|PMID:30368667|PMID:30455926|PMID:32109076|PMID:32581362|PMID:32595695|PMID:32628740 11851929 CLASP1 cytoplasmic linker associated protein 1 gene DOID:9007073 Cough susceptibility ISO RGD:1322173 D RGD:9068941 20200609 RGD associated with Drug-Related Side Effects and Adverse Reactions; DNA:SNPs:multiple: PMID:28084903|REF_RGD_ID:27226683 11851929 CLASP1 cytoplasmic linker associated protein 1 gene DOID:9007661 Dwarfism ISO RGD:1322173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:12409455|PMID:21474760|PMID:21990275|PMID:22581640|PMID:23794361|PMID:25741868|PMID:26419500|PMID:26522830|PMID:27040866|PMID:28492532|PMID:28669401|PMID:29263834|PMID:29391254|PMID:30214071|PMID:30368667|PMID:32581362|PMID:32595695|PMID:32628740 11851994 C1H1orf43 chromosome 1 C1orf43 homolog gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1603678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11851994 C1H1orf43 chromosome 1 C1orf43 homolog gene DOID:0080600 COVID-19 ISO RGD:1603678 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11851994 C1H1orf43 chromosome 1 C1orf43 homolog gene DOID:0111940 immunodeficiency 42 ISO RGD:1603678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11851994 C1H1orf43 chromosome 1 C1orf43 homolog gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11851994 C1H1orf43 chromosome 1 C1orf43 homolog gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 11851994 C1H1orf43 chromosome 1 C1orf43 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1603678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11851994 C1H1orf43 chromosome 1 C1orf43 homolog gene DOID:5812 MHC class II deficiency ISO RGD:1603678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11851994 C1H1orf43 chromosome 1 C1orf43 homolog gene DOID:630 genetic disease ISO RGD:1603678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11851994 C1H1orf43 chromosome 1 C1orf43 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11852005 GLIS3 GLIS family zinc finger 3 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:1348907 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:25741868|PMID:27899417|PMID:28492532|PMID:29146476|PMID:29992946|PMID:32693112|PMID:35394098 11852005 GLIS3 GLIS family zinc finger 3 gene DOID:0060638 neonatal diabetes mellitus with congenital hypothyroidism ISO RGD:1348907 D RGD:7240710 20180130 OMIM 11852005 GLIS3 GLIS family zinc finger 3 gene DOID:0060638 neonatal diabetes mellitus with congenital hypothyroidism ISO RGD:1348907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NDH SYNDROME | ClinVar Annotator: match by term: Neonatal diabetes mellitus with congenital hypothyroidism PMID:12966531|PMID:16715098|PMID:18263616|PMID:18414213|PMID:23856252|PMID:24033266|PMID:25741868|PMID:26259131|PMID:27899417|PMID:28253873|PMID:28444304|PMID:28492532|PMID:29146476|PMID:29992946|PMID:31415576|PMID:32425884|PMID:32693112|PMID:35394098 11852005 GLIS3 GLIS family zinc finger 3 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1348907 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 11852005 GLIS3 GLIS family zinc finger 3 gene DOID:0070093 schizophrenia 18 ISO RGD:1348907 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Schizophrenia 18 PMID:23341099 11852005 GLIS3 GLIS family zinc finger 3 gene DOID:12271 aniridia ISO RGD:1348907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia PMID:26893459 11852005 GLIS3 GLIS family zinc finger 3 gene DOID:13550 angle-closure glaucoma ISO RGD:1348907 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27064256 11852005 GLIS3 GLIS family zinc finger 3 gene DOID:630 genetic disease ISO RGD:1348907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11852005 GLIS3 GLIS family zinc finger 3 gene DOID:9351 diabetes mellitus ISO RGD:1348907 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:18414213|PMID:25741868|PMID:27899417|PMID:28492532|PMID:29146476|PMID:29992946|PMID:31415576|PMID:32693112|PMID:35394098 11852005 GLIS3 GLIS family zinc finger 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1348907 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22158537 11852005 GLIS3 GLIS family zinc finger 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1348907 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19430480 11852021 WDR93 WD repeat domain 93 gene DOID:0060041 autism spectrum disorder ISO RGD:1604328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic spectrum disorder with isolated skills PMID:25558065 11852021 WDR93 WD repeat domain 93 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1604328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 11852021 WDR93 WD repeat domain 93 gene DOID:2717 Bloom syndrome ISO RGD:1604328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11852021 WDR93 WD repeat domain 93 gene DOID:630 genetic disease ISO RGD:1604328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852021 WDR93 WD repeat domain 93 gene DOID:9256 colorectal cancer ISO RGD:1604328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11852042 PLXNA2 plexin A2 gene DOID:0050589 inflammatory bowel disease ISO RGD:1313288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 11852042 PLXNA2 plexin A2 gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1313288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 11852042 PLXNA2 plexin A2 gene DOID:12849 autistic disorder ISO RGD:1313288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11852042 PLXNA2 plexin A2 gene DOID:1540 parathyroid carcinoma ISO RGD:1313288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11852042 PLXNA2 plexin A2 gene DOID:5419 schizophrenia ISO RGD:1313288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 11852042 PLXNA2 plexin A2 gene DOID:630 genetic disease ISO RGD:1313288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11852042 PLXNA2 plexin A2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1313288 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11852042 PLXNA2 plexin A2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11852083 LYRM9 LYR motif containing 9 gene DOID:5409 lung small cell carcinoma ISO RGD:3210028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 11852083 LYRM9 LYR motif containing 9 gene DOID:630 genetic disease ISO RGD:3210028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852095 GYPC glycophorin C (Gerbich blood group) gene DOID:0060224 atrial fibrillation ISO RGD:1321115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11852095 GYPC glycophorin C (Gerbich blood group) gene DOID:12365 malaria ISO RGD:1321115 D RGD:7240710 20230505 OMIM 11852095 GYPC glycophorin C (Gerbich blood group) gene DOID:12365 malaria ISO RGD:1321115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malaria, resistance to PMID:11719395|PMID:12469115|PMID:1991173|PMID:21061946|PMID:5011657|PMID:8157284 11852095 GYPC glycophorin C (Gerbich blood group) gene DOID:630 genetic disease ISO RGD:1321115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852103 CFAP96 cilia and flagella associated protein 96 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:2298813 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome PMID:25741868|PMID:28492532|PMID:33473208 11852103 CFAP96 cilia and flagella associated protein 96 gene DOID:0111367 Beukes hip dysplasia ISO RGD:2298813 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Hip dysplasia, Beukes type PMID:25741868 11852103 CFAP96 cilia and flagella associated protein 96 gene DOID:1059 intellectual disability ISO RGD:2298813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:33473208 11852103 CFAP96 cilia and flagella associated protein 96 gene DOID:10907 microcephaly ISO RGD:2298813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:33473208 11852103 CFAP96 cilia and flagella associated protein 96 gene DOID:12849 autistic disorder ISO RGD:2298813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11852103 CFAP96 cilia and flagella associated protein 96 gene DOID:12930 dilated cardiomyopathy ISO RGD:2298813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 11852103 CFAP96 cilia and flagella associated protein 96 gene DOID:14784 olivopontocerebellar atrophy ISO RGD:2298813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia PMID:25741868|PMID:28492532|PMID:33473208 11852103 CFAP96 cilia and flagella associated protein 96 gene DOID:1826 epilepsy ISO RGD:2298813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:28492532|PMID:33473208 11852103 CFAP96 cilia and flagella associated protein 96 gene DOID:2234 focal epilepsy ISO RGD:2298813 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:25741868|PMID:28492532|PMID:33473208 11852103 CFAP96 cilia and flagella associated protein 96 gene DOID:630 genetic disease ISO RGD:2298813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852103 CFAP96 cilia and flagella associated protein 96 gene DOID:9001793 Generalized Epilepsy ISO RGD:2298813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:28492532|PMID:33473208 11852103 CFAP96 cilia and flagella associated protein 96 gene DOID:9002016 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE ISO RGD:2298813 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, di rocco type PMID:25741868 11852103 CFAP96 cilia and flagella associated protein 96 gene DOID:9003512 Developmental and Epileptic Encephalopathy 106 ISO RGD:2298813 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 106 PMID:25741868|PMID:28492532|PMID:33473208 11852103 CFAP96 cilia and flagella associated protein 96 gene DOID:9006534 Nervous System Malformations ISO RGD:2298813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:28492532|PMID:33473208 11852103 CFAP96 cilia and flagella associated protein 96 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:2298813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 11852122 CLDN14 claudin 14 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1319353 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:11163249|PMID:15880785|PMID:22246673|PMID:25741868|PMID:30303587 11852122 CLDN14 claudin 14 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1319353 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11852122 CLDN14 claudin 14 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1319353 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11852122 CLDN14 claudin 14 gene DOID:0110487 autosomal recessive nonsyndromic deafness 29 ISO RGD:1319353 D RGD:7240710 20180130 OMIM 11852122 CLDN14 claudin 14 gene DOID:0110487 autosomal recessive nonsyndromic deafness 29 ISO RGD:1319353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 29 PMID:11163249|PMID:15880785|PMID:22246673|PMID:23235333|PMID:23590985|PMID:23991001|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26969326|PMID:27838790|PMID:28492532|PMID:30303587|PMID:30311386|PMID:33105617 11852122 CLDN14 claudin 14 gene DOID:10003 sensorineural hearing loss ISO RGD:1319353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 11852122 CLDN14 claudin 14 gene DOID:10983 Alport syndrome ISO RGD:1319353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alport syndrome PMID:30311386 11852122 CLDN14 claudin 14 gene DOID:630 genetic disease ISO RGD:1319353 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11852122 CLDN14 claudin 14 gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1319353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 11852122 CLDN14 claudin 14 gene DOID:9002315 Kidney Calculi ISO RGD:1319353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19561606 11852122 CLDN14 claudin 14 gene DOID:9002802 Acidoses ISO RGD:1309165 D RGD:9068941 20200609 RGD mRNA:increased expression:duodenum PMID:17383680|REF_RGD_ID:1600867 11852122 CLDN14 claudin 14 gene DOID:9003879 Vein of Galen Aneurysm ISO RGD:1319353 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galen vein aneurysm PMID:30578106 11852122 CLDN14 claudin 14 gene DOID:9004538 Hearing Loss ISO RGD:1319353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:11163249|PMID:15880785|PMID:22246673|PMID:23235333|PMID:25741868|PMID:28492532|PMID:30303587|PMID:30311386 11852122 CLDN14 claudin 14 gene DOID:9008681 Deafness ISO RGD:1319353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11163249 11852122 CLDN14 claudin 14 gene DOID:9008681 Deafness susceptibility ISO RGD:1319353 D RGD:9068941 20200609 RGD DNA:deletion, missense mutation: :398delT, p.V85D PMID:11163249|REF_RGD_ID:1600866 11852131 MDC1 mediator of DNA damage checkpoint 1 gene DOID:11372 megacolon ISO RGD:1348817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11852131 MDC1 mediator of DNA damage checkpoint 1 gene DOID:3459 breast carcinoma ISO RGD:1348817 D RGD:9068941 20200609 RGD protein:decreased expression:breast (human) PMID:17546051|REF_RGD_ID:9589053 11852131 MDC1 mediator of DNA damage checkpoint 1 gene DOID:3905 lung carcinoma ISO RGD:1348817 D RGD:9068941 20200609 RGD protein:decreased expression:bronchus, parenchyma (human) PMID:17546051|REF_RGD_ID:9589053 11852131 MDC1 mediator of DNA damage checkpoint 1 gene DOID:4362 cervical cancer ISO RGD:1348817 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:uterine cervix (human) PMID:21853275|REF_RGD_ID:9589052 11852131 MDC1 mediator of DNA damage checkpoint 1 gene DOID:5517 stomach carcinoma severity ISO RGD:1348817 D RGD:9068941 20200609 RGD protein:decreased expression:stomach (human) PMID:23569343|REF_RGD_ID:9589059 11852131 MDC1 mediator of DNA damage checkpoint 1 gene DOID:630 genetic disease ISO RGD:1348817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852149 NEUROD2 neuronal differentiation 2 gene DOID:0112208 developmental and epileptic encephalopathy 72 ISO RGD:1344395 D RGD:7240710 20190424 OMIM 11852149 NEUROD2 neuronal differentiation 2 gene DOID:0112208 developmental and epileptic encephalopathy 72 ISO RGD:1344395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 72 PMID:25741868|PMID:30323019 11852149 NEUROD2 neuronal differentiation 2 gene DOID:630 genetic disease ISO RGD:1344395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852154 FHIP1A FHF complex subunit HOOK interacting protein 1A gene DOID:0080600 COVID-19 ISO RGD:2293812 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11852154 FHIP1A FHF complex subunit HOOK interacting protein 1A gene DOID:630 genetic disease ISO RGD:2293812 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852154 FHIP1A FHF complex subunit HOOK interacting protein 1A gene DOID:9002189 High Myopia ISO RGD:2293812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11852172 PIK3R6 phosphoinositide-3-kinase regulatory subunit 6 gene DOID:630 genetic disease ISO RGD:1353016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852197 KRT9 keratin 9 gene DOID:0080223 epidermolytic palmoplantar keratoderma ISO RGD:736715 D RGD:7240710 20180130 OMIM 11852197 KRT9 keratin 9 gene DOID:0080223 epidermolytic palmoplantar keratoderma ISO RGD:736715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma PMID:12072061|PMID:12838553|PMID:1385292|PMID:152116|PMID:17074468|PMID:19106041|PMID:20964665|PMID:22262370|PMID:24862219|PMID:2531643|PMID:25741868|PMID:28492532|PMID:2960371|PMID:30666268|PMID:7511021|PMID:7512862|PMID:7516304|PMID:7523529|PMID:7532199|PMID:8647270|PMID:9204965|PMID:9856842 11852197 KRT9 keratin 9 gene DOID:10283 prostate cancer ISO RGD:736715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11852197 KRT9 keratin 9 gene DOID:3390 palmoplantar keratosis ISO RGD:736715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma PMID:12838553|PMID:1385292|PMID:17074468|PMID:19106041|PMID:22262370|PMID:2531643|PMID:25741868|PMID:28492532|PMID:7512862|PMID:7523529 11852197 KRT9 keratin 9 gene DOID:630 genetic disease ISO RGD:736715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12838553|PMID:24862219|PMID:25741868|PMID:28492532|PMID:7512862|PMID:8647270|PMID:9856842 11852197 KRT9 keratin 9 gene DOID:9002223 Diffuse Palmoplantar Keratoderma ISO RGD:736715 D RGD:9068941 20200609 RGD EPPK, OMIM:144200 PMID:7512862|REF_RGD_ID:1600065 11852197 KRT9 keratin 9 gene DOID:9007353 Epidermolytic Palmoplantar Keratoderma, with Knuckle Pads ISO RGD:736715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma, epidermolytic, with knuckle pads PMID:12192490|PMID:12838553|PMID:1385292|PMID:17074468|PMID:19106041|PMID:22262370|PMID:2531643|PMID:25741868|PMID:28492532|PMID:7512862|PMID:7523529 11852206 MOB4 MOB family member 4, phocein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601878 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11852234 PMCH pro-melanin concentrating hormone gene DOID:630 genetic disease ISO RGD:731886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852234 PMCH pro-melanin concentrating hormone gene DOID:9007692 Insulin Resistance ISO RGD:3358 D RGD:9068941 20200609 RGD PMID:16002548|REF_RGD_ID:1642484 11852234 PMCH pro-melanin concentrating hormone gene DOID:9970 obesity ISO RGD:1553120 D RGD:9068941 20200609 RGD associated with Hyperphagia PMID:12453827|REF_RGD_ID:1642486 11852234 PMCH pro-melanin concentrating hormone gene DOID:9970 obesity ISO RGD:3358 D RGD:9068941 20200609 RGD associated with Hyperphagia;protein:increased expression:hypothalamus PMID:15363890|REF_RGD_ID:1624360 11852234 PMCH pro-melanin concentrating hormone gene DOID:9970 obesity ISO RGD:731886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12355323 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:0050771 pheochromocytoma ISO RGD:69062 D RGD:9068941 20201211 RGD PMID:12036912|REF_RGD_ID:619590 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:0050773 paraganglioma ISO RGD:69062 D RGD:9068941 20201211 RGD PMID:12036912|REF_RGD_ID:619590 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:0050868 hepatocellular adenoma ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17620307 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:0050908 myelodysplastic syndrome ISO RGD:69115 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:9171997|REF_RGD_ID:10450601 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:69115 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:0080137 multiple endocrine neoplasia type 4 ISO RGD:69115 D RGD:7240710 20180130 OMIM 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:0080137 multiple endocrine neoplasia type 4 ISO RGD:69115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia type 4 PMID:11986963|PMID:15026335|PMID:15607373|PMID:16199547|PMID:17030811|PMID:17372254|PMID:17519308|PMID:17576681|PMID:19141585|PMID:20075119|PMID:20530095|PMID:20824794|PMID:21289244|PMID:21454826|PMID:21575944|PMID:22026581|PMID:22291433|PMID:22547391|PMID:23273568|PMID:23505216|PMID:23555276|PMID:24033266|PMID:24819502|PMID:25058500|PMID:25586243|PMID:25741868|PMID:26065650|PMID:26467025|PMID:26603463|PMID:26762354|PMID:26829051|PMID:26989398|PMID:27038812|PMID:27153395|PMID:27997549|PMID:28425505|PMID:28492532|PMID:28667701|PMID:28687353|PMID:28801450|PMID:29625052|PMID:30065701|PMID:30990521|PMID:31980526|PMID:32052251|PMID:32232325|PMID:32386678|PMID:32761341|PMID:33140857|PMID:3328816|PMID:33316141|PMID:34426522|PMID:35355569|PMID:9536098 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:69115 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:10976 membranous glomerulonephritis treatment ISO RGD:69062 D RGD:9068941 20200609 RGD PMID:24583340|REF_RGD_ID:10045363 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:69115 D RGD:9068941 20200609 RGD PMID:18334837|REF_RGD_ID:2293592 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:69116 D RGD:9068941 20200609 RGD PMID:18027869|REF_RGD_ID:2293595 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:11202 primary hyperparathyroidism ISO RGD:69115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperparathyroidism PMID:21289244|PMID:25741868|PMID:26762354|PMID:26989398|PMID:27038812|PMID:27153395|PMID:28492532|PMID:30990521|PMID:3328816 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:11446 sciatic neuropathy ISO RGD:69062 D RGD:9068941 20200609 RGD protein:decreased expression:sciatic nerve PMID:21959983|REF_RGD_ID:10045367 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:1324 lung cancer disease_progression ISO RGD:69062 D RGD:9068941 20220707 RGD protein:decreased expression:lung (rat) PMID:20512841|REF_RGD_ID:152998913 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:1612 breast cancer ISO RGD:69115 D RGD:9068941 20200609 RGD PMID:18030569|REF_RGD_ID:2293594 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:1612 breast cancer ISO RGD:69115 D RGD:9068941 20200609 RGD DNA:SNP PMID:18174243|REF_RGD_ID:2289652 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:1612 breast cancer ISO RGD:69115 D RGD:9068941 20200609 RGD protein:increased localization:cytoplasm PMID:12244302|REF_RGD_ID:734746 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:1686 glaucoma ISO RGD:69062 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:retina, Muller cell PMID:16707124|REF_RGD_ID:2293623 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:169 neuroendocrine tumor ISO RGD:69115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroendocrine neoplasm 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:1984 rectal benign neoplasm ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15525823 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:2154 nephroblastoma disease_progression ISO RGD:69115 D RGD:9068941 20200609 RGD PMID:14760081|REF_RGD_ID:2293605 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:2394 ovarian cancer ISO RGD:69115 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:17372254|PMID:25741868|PMID:28492532 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:69115 D RGD:9068941 20200609 RGD PMID:10886076|REF_RGD_ID:2293608 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:2696 Leydig cell tumor ISO RGD:69116 D RGD:9068941 20200609 RGD associated with Multiple Endocrine Neoplasia Type 1;protein:decreased activity:testes PMID:18310289|REF_RGD_ID:2293582 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:69062 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:16787597|REF_RGD_ID:2293620 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:3021 acute kidney failure ISO RGD:69062 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:16557226|REF_RGD_ID:2293624 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:3125 multiple endocrine neoplasia ISO RGD:69115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia PMID:28492532 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:3125 multiple endocrine neoplasia susceptibility ISO RGD:69062 D RGD:9068941 20200609 RGD DNA, protein:frameshift mutation, decreased expression PMID:17030811|REF_RGD_ID:2293616 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:3829 pituitary adenoma ISO RGD:69062 D RGD:9068941 20201211 RGD PMID:12036912|REF_RGD_ID:619590 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:69115 D RGD:9068941 20200609 RGD PMID:9500468|REF_RGD_ID:13673920 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:4448 macular degeneration ISO RGD:69115 D RGD:9068941 20200609 RGD PMID:20054800|REF_RGD_ID:10043353 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:4450 renal cell carcinoma ISO RGD:69115 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:18425369|REF_RGD_ID:2293590 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:69115 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:17924468|PMID:18495610|REF_RGD_ID:2289127|REF_RGD_ID:2293589 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:5223 infertility ISO RGD:69062 D RGD:9068941 20210611 RGD PMID:30893315|REF_RGD_ID:126908018 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:5409 lung small cell carcinoma ISO RGD:69115 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:9500468|REF_RGD_ID:13673920 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:5844 myocardial infarction ISO RGD:69116 D RGD:9068941 20200609 RGD PMID:22492676|REF_RGD_ID:10045366 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:5844 myocardial infarction treatment ISO RGD:69062 D RGD:9068941 20200609 RGD PMID:22492676|REF_RGD_ID:10045366 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:630 genetic disease ISO RGD:69115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:6432 pulmonary hypertension treatment ISO RGD:69062 D RGD:9068941 20200609 RGD PMID:22383500|REF_RGD_ID:10045357 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:684 hepatocellular carcinoma ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20698225 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:83 cataract ISO RGD:69062 D RGD:9068941 20210416 RGD PMID:12036912|PMID:17030811|REF_RGD_ID:2293616|REF_RGD_ID:619590 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:83 cataract ISO RGD:69062 D RGD:9068941 20210514 RGD in KO rat PMID:30893315|REF_RGD_ID:126908018 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:8469 influenza ISO RGD:69116 D RGD:9068941 20221110 RGD PMID:20081832|REF_RGD_ID:155641261 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:8541 Sezary's disease ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:8552 chronic myeloid leukemia ISO RGD:69115 D RGD:9068941 20200609 RGD Protein:increased expression:Blood,common myeloid progenitor, CD34-positive PMID:20200561|REF_RGD_ID:13673878 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:8634 prostate carcinoma in situ ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20932324 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:8634 prostate carcinoma in situ ISO RGD:69115 D RGD:9068941 20200609 RGD PMID:18691549|REF_RGD_ID:2299085 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:69115 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium PMID:18301453|REF_RGD_ID:2293574 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9000039 Spinal Cord Injuries ISO RGD:69062 D RGD:9068941 20200609 RGD protein:decreased expression, altered localization:spinal cord, neuron, microglial cell PMID:18319192|REF_RGD_ID:2293615 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9000081 Lymphatic Metastasis ISO RGD:69115 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:12015771|REF_RGD_ID:2293607 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9000081 Lymphatic Metastasis ISO RGD:69115 D RGD:9068941 20200609 RGD associated with non-small cell lung carcinoma PMID:28601655|REF_RGD_ID:13673921 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9000189 Fallopian Tube Neoplasms ISO RGD:69115 D RGD:9068941 20200609 RGD protein:decreased expression:fallopian tube PMID:17927588|REF_RGD_ID:2299088 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9000217 Stomach Neoplasms ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15138205 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9000784 Fibrosis ISO RGD:69062 D RGD:9068941 20200609 RGD protein:decreased expression:renal tubule PMID:16137007|REF_RGD_ID:2293625 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9000998 Brain Injuries ISO RGD:69062 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex PMID:21728064|REF_RGD_ID:10045359 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9001341 Chloracne ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9001586 Experimental Liver Neoplasms disease_progression ISO RGD:69062 D RGD:9068941 20220707 RGD mRNA:increased expression:liver (rat) PMID:19533683|REF_RGD_ID:2315050 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9002165 Diabetic Nephropathies ISO RGD:69062 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney, glomerulus PMID:15698433|REF_RGD_ID:2293628 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9002165 Diabetic Nephropathies ISO RGD:69062 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:16805985|REF_RGD_ID:2293619 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9002234 Pituitary Neoplasms ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16391232 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9002245 Intestinal Neoplasms ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24185511 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9002265 Kidney Neoplasms ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21693435 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9002304 Prostatic Neoplasms ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12727815|PMID:20932324|PMID:29610475 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9002304 Prostatic Neoplasms ISO RGD:69116 D RGD:9068941 20200609 RGD PMID:18006855|REF_RGD_ID:2293596 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9002304 Prostatic Neoplasms severity ISO RGD:69115 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:18415709|REF_RGD_ID:2293591 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9002704 Leukoencephalopathies treatment ISO RGD:69062 D RGD:9068941 20200609 RGD PMID:24322053|REF_RGD_ID:10045369 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9002762 Ovarian Neoplasms ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16391232 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9002762 Ovarian Neoplasms ISO RGD:69116 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:11376116|REF_RGD_ID:2293610 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:69115 D RGD:9068941 20200609 RGD PMID:15701850|REF_RGD_ID:2299089 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:69115 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium PMID:18301453|REF_RGD_ID:2293574 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9003566 Mesothelioma ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18301454 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9004009 Reperfusion Injury ISO RGD:69062 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:15799773|REF_RGD_ID:2293627 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9004207 Testicular Neoplasms ISO RGD:69116 D RGD:9068941 20200609 RGD protein:decreased expression:testis PMID:11376116|REF_RGD_ID:2293610 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9004265 Endometrioid Carcinomas ISO RGD:69115 D RGD:9068941 20200609 RGD PMID:17985331|REF_RGD_ID:2299091 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9004268 Uterine Neoplasms ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16391232 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:69062 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:9321826|REF_RGD_ID:2293630 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9005172 Lung Neoplasms ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12466968|PMID:16391232|PMID:20512841 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69062 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland PMID:15844214|REF_RGD_ID:2293626 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:69062 D RGD:9068941 20200609 RGD PMID:22651929|REF_RGD_ID:10045559 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9005539 Familial Prostate Cancer ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69115 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15026335|PMID:15607373|PMID:17030811|PMID:17372254|PMID:17576681|PMID:19141585|PMID:20075119|PMID:20824794|PMID:21289244|PMID:21454826|PMID:21575944|PMID:22026581|PMID:22291433|PMID:22547391|PMID:23273568|PMID:23505216|PMID:24033266|PMID:24819502|PMID:25058500|PMID:25586243|PMID:25741868|PMID:26065650|PMID:26467025|PMID:26603463|PMID:26762354|PMID:26989398|PMID:27038812|PMID:27153395|PMID:27997549|PMID:28425505|PMID:28492532|PMID:28667701|PMID:28687353|PMID:28801450|PMID:29625052|PMID:30065701|PMID:30990521|PMID:31980526|PMID:32052251|PMID:32232325|PMID:32386678|PMID:32761341|PMID:33140857|PMID:3328816|PMID:33316141|PMID:34426522|PMID:35355569|PMID:9536098 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9007188 Liver Neoplasms ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16391232 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9007715 Endometrial Neoplasms ISO RGD:69115 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium PMID:15188025|REF_RGD_ID:2299090 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9008114 Helicobacter Infections ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15138205 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9008939 Breast Neoplasms ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17092400 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9119 acute myeloid leukemia ISO RGD:69115 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:9171997|REF_RGD_ID:10450601 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9669 senile cataract ISO RGD:69115 D RGD:9068941 20200609 RGD PMID:21501079|REF_RGD_ID:10045354 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9970 obesity ISO RGD:69062 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:23357529|REF_RGD_ID:10045356 11852247 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9970 obesity ISO RGD:69116 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:23357529|REF_RGD_ID:10045356 11852254 KIF11 kinesin family member 11 gene DOID:0060349 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation ISO RGD:1346274 D RGD:7240710 20180130 OMIM 11852254 KIF11 kinesin family member 11 gene DOID:0060349 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation ISO RGD:1346274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphedema, microcephaly and chorioretinopathy syndrome | ClinVar Annotator: match by term: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Microcephaly lymphedema chorioretinal dysplasia | ClinVar Annotator: match by term: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation PMID:15930898|PMID:17576681|PMID:22284827|PMID:22653704|PMID:24281367|PMID:25115524|PMID:25124931|PMID:25741868|PMID:25934493|PMID:26472404|PMID:26566857|PMID:27212378|PMID:28492532|PMID:30452590|PMID:30792901|PMID:31077665|PMID:31130284|PMID:32214227|PMID:33137195|PMID:33619735|PMID:34128965|PMID:9536098 11852254 KIF11 kinesin family member 11 gene DOID:0070051 autosomal dominant intellectual developmental disorder 21 ISO RGD:1346274 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome PMID:25741868 11852254 KIF11 kinesin family member 11 gene DOID:0080105 microcephaly and chorioretinopathy 1 ISO RGD:1346274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 1 PMID:25741868 11852254 KIF11 kinesin family member 11 gene DOID:0080600 COVID-19 ISO RGD:1346274 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11852254 KIF11 kinesin family member 11 gene DOID:10584 retinitis pigmentosa ISO RGD:1346274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa PMID:25741868|PMID:32214227 11852254 KIF11 kinesin family member 11 gene DOID:1059 intellectual disability ISO RGD:1346274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11852254 KIF11 kinesin family member 11 gene DOID:10907 microcephaly ISO RGD:1346274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11852254 KIF11 kinesin family member 11 gene DOID:1227 neutropenia ISO RGD:1346274 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:25741868|PMID:28492532 11852254 KIF11 kinesin family member 11 gene DOID:2843 long QT syndrome ISO RGD:1346274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11852254 KIF11 kinesin family member 11 gene DOID:630 genetic disease ISO RGD:1346274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15930898|PMID:17576681|PMID:22284827|PMID:25741868|PMID:25934493|PMID:28492532|PMID:9536098 11852254 KIF11 kinesin family member 11 gene DOID:684 hepatocellular carcinoma ISO RGD:1346274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11852254 KIF11 kinesin family member 11 gene DOID:8501 fundus dystrophy ISO RGD:1346274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532|PMID:30452590 11852254 KIF11 kinesin family member 11 gene DOID:9002170 Experimental Neoplasms ISO RGD:1346274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17974955 11852254 KIF11 kinesin family member 11 gene DOID:9003882 Chromosomal Instability ISO RGD:1346274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17974955 11852254 KIF11 kinesin family member 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346274 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11852254 KIF11 kinesin family member 11 gene DOID:9008582 Developmental Disease ISO RGD:1346274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11852254 KIF11 kinesin family member 11 gene DOID:9008692 Aneuploidy ISO RGD:1346274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17974955 11852280 ZNF287 zinc finger protein 287 gene DOID:10283 prostate cancer ISO RGD:1318494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11852280 ZNF287 zinc finger protein 287 gene DOID:630 genetic disease ISO RGD:1318494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852294 RXFP3 relaxin family peptide receptor 3 gene DOID:630 genetic disease ISO RGD:1352408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852294 RXFP3 relaxin family peptide receptor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11852299 CDK2AP2 cyclin dependent kinase 2 associated protein 2 gene DOID:1059 intellectual disability ISO RGD:1604051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11852299 CDK2AP2 cyclin dependent kinase 2 associated protein 2 gene DOID:630 genetic disease ISO RGD:1604051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852299 CDK2AP2 cyclin dependent kinase 2 associated protein 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11852299 CDK2AP2 cyclin dependent kinase 2 associated protein 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1604051 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11852299 CDK2AP2 cyclin dependent kinase 2 associated protein 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1604051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11852316 DDX23 DEAD-box helicase 23 gene DOID:1059 intellectual disability ISO RGD:1318600 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11852316 DDX23 DEAD-box helicase 23 gene DOID:630 genetic disease ISO RGD:1318600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852316 DDX23 DEAD-box helicase 23 gene DOID:9001276 Failure to Thrive ISO RGD:1318600 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:34050707 11852316 DDX23 DEAD-box helicase 23 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1318600 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intrauterine growth retardation PMID:25741868|PMID:34050707 11852316 DDX23 DEAD-box helicase 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318600 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: DDX23-related Neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:34050707 11852337 C2AH2orf49 chromosome 2A C2orf49 homolog gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1604297 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy 11852337 C2AH2orf49 chromosome 2A C2orf49 homolog gene DOID:0050700 cardiomyopathy ISO RGD:1604297 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 11852337 C2AH2orf49 chromosome 2A C2orf49 homolog gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1604297 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 11852337 C2AH2orf49 chromosome 2A C2orf49 homolog gene DOID:12642 hiatus hernia ISO RGD:1604297 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hiatus hernia PMID:25741868 11852337 C2AH2orf49 chromosome 2A C2orf49 homolog gene DOID:12930 dilated cardiomyopathy ISO RGD:1604297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17576681|PMID:24033266|PMID:25358972|PMID:25741868|PMID:27532257|PMID:28166811|PMID:28492532|PMID:31333075|PMID:31568572|PMID:9536098 11852337 C2AH2orf49 chromosome 2A C2orf49 homolog gene DOID:630 genetic disease ISO RGD:1604297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11852337 C2AH2orf49 chromosome 2A C2orf49 homolog gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1604297 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy 11852356 TMCC1 transmembrane and coiled-coil domain family 1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1349742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 11852356 TMCC1 transmembrane and coiled-coil domain family 1 gene DOID:630 genetic disease ISO RGD:1349742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852356 TMCC1 transmembrane and coiled-coil domain family 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1349742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 11852356 TMCC1 transmembrane and coiled-coil domain family 1 gene DOID:9270 alkaptonuria ISO RGD:1349742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11852389 KMO kynurenine 3-monooxygenase gene DOID:0111261 fumarase deficiency ISO RGD:737300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fumarase deficiency PMID:11865300|PMID:12761039|PMID:21398687|PMID:22069215|PMID:28300276|PMID:28492532 11852389 KMO kynurenine 3-monooxygenase gene DOID:1540 parathyroid carcinoma ISO RGD:737300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11852389 KMO kynurenine 3-monooxygenase gene DOID:1596 depressive disorder ISO RGD:620610 D RGD:9068941 20200609 RGD protein:decreased activity:plasma PMID:29217494|REF_RGD_ID:13703051 11852389 KMO kynurenine 3-monooxygenase gene DOID:3042 allergic contact dermatitis ISO RGD:737300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 11852389 KMO kynurenine 3-monooxygenase gene DOID:5419 schizophrenia ISO RGD:737300 D RGD:9068941 20200609 RGD protein:decreased activity:brain: PMID:21036897|REF_RGD_ID:13513905 11852389 KMO kynurenine 3-monooxygenase gene DOID:5419 schizophrenia treatment ISO RGD:620610 D RGD:9068941 20200609 RGD PMID:29030243|REF_RGD_ID:13703052 11852389 KMO kynurenine 3-monooxygenase gene DOID:630 genetic disease ISO RGD:737300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852389 KMO kynurenine 3-monooxygenase gene DOID:9000039 Spinal Cord Injuries ISO RGD:620610 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal cord: PMID:26524415|REF_RGD_ID:13703043 11852389 KMO kynurenine 3-monooxygenase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11852389 KMO kynurenine 3-monooxygenase gene DOID:9002211 Hyperalgesia treatment ISO RGD:620610 D RGD:9068941 20200609 RGD PMID:26524415|REF_RGD_ID:13703043 11852389 KMO kynurenine 3-monooxygenase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11852389 KMO kynurenine 3-monooxygenase gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:737300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 11852389 KMO kynurenine 3-monooxygenase gene DOID:9007558 Acute Experimental Pancreatitis disease_progression ISO RGD:620610 D RGD:9068941 20200609 RGD PMID:28398044|REF_RGD_ID:13703053 11852389 KMO kynurenine 3-monooxygenase gene DOID:9007558 Acute Experimental Pancreatitis disease_progression ISO RGD:734253 D RGD:9068941 20200609 RGD PMID:26752518|REF_RGD_ID:11342439 11852389 KMO kynurenine 3-monooxygenase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11852408 PBXIP1 PBX homeobox interacting protein 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1313054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11852408 PBXIP1 PBX homeobox interacting protein 1 gene DOID:0080600 COVID-19 ISO RGD:1313054 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11852408 PBXIP1 PBX homeobox interacting protein 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1313054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11852408 PBXIP1 PBX homeobox interacting protein 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1313054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11852408 PBXIP1 PBX homeobox interacting protein 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1313054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11852408 PBXIP1 PBX homeobox interacting protein 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1313054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11852408 PBXIP1 PBX homeobox interacting protein 1 gene DOID:5812 MHC class II deficiency ISO RGD:1313054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11852408 PBXIP1 PBX homeobox interacting protein 1 gene DOID:630 genetic disease ISO RGD:1313054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852408 PBXIP1 PBX homeobox interacting protein 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11852418 MYEOV myeloma overexpressed gene DOID:1059 intellectual disability ISO RGD:1344425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11852418 MYEOV myeloma overexpressed gene DOID:630 genetic disease ISO RGD:1344425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852418 MYEOV myeloma overexpressed gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1344425 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11852418 MYEOV myeloma overexpressed gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1344425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11852522 C5H5orf63 chromosome 5 C5orf63 homolog gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:5132119 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11852522 C5H5orf63 chromosome 5 C5orf63 homolog gene DOID:303 substance-related disorder ISO RGD:5132119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11852522 C5H5orf63 chromosome 5 C5orf63 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:5132119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11852522 C5H5orf63 chromosome 5 C5orf63 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:5132119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 11852522 C5H5orf63 chromosome 5 C5orf63 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:5132119 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11852541 HARS2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:0050857 Perrault syndrome ISO RGD:1352732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perrault syndrome PMID:21464306|PMID:517579 11852541 HARS2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1352732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11852541 HARS2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1352732 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11852541 HARS2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:0110842 Usher syndrome type 3B ISO RGD:1352732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 3B PMID:28492532 11852541 HARS2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:10003 sensorineural hearing loss ISO RGD:1352732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:28492532|PMID:31827252 11852541 HARS2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1352732 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 11852541 HARS2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:9002768 Perrault Syndrome 2 ISO RGD:1352732 D RGD:7240710 20200610 OMIM 11852541 HARS2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:9002768 Perrault Syndrome 2 ISO RGD:1352732 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Perrault syndrome 2 PMID:21464306|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31449985|PMID:31486067|PMID:31827252|PMID:34416374|PMID:517579 11852541 HARS2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11852541 HARS2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352732 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11852566 FAM110A family with sequence similarity 110 member A gene DOID:630 genetic disease ISO RGD:1318939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852572 ODAD2 outer dynein arm docking complex subunit 2 gene DOID:0050144 Kartagener syndrome ISO RGD:1315828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:23806086|PMID:23849778|PMID:24088041|PMID:28492532 11852572 ODAD2 outer dynein arm docking complex subunit 2 gene DOID:0050545 visceral heterotaxy ISO RGD:1315829 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 11852572 ODAD2 outer dynein arm docking complex subunit 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1315828 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11852572 ODAD2 outer dynein arm docking complex subunit 2 gene DOID:0110609 primary ciliary dyskinesia 23 ISO RGD:1315828 D RGD:7240710 20180130 OMIM 11852572 ODAD2 outer dynein arm docking complex subunit 2 gene DOID:0110609 primary ciliary dyskinesia 23 ISO RGD:1315828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 23 PMID:16199547|PMID:17576681|PMID:23806086|PMID:23849778|PMID:24033266|PMID:24088041|PMID:24203976|PMID:25741868|PMID:27637300|PMID:28492532|PMID:31213628|PMID:31650533|PMID:33577779|PMID:9536098 11852572 ODAD2 outer dynein arm docking complex subunit 2 gene DOID:12336 male infertility ISO RGD:1315828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 11852572 ODAD2 outer dynein arm docking complex subunit 2 gene DOID:630 genetic disease ISO RGD:1315828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11852572 ODAD2 outer dynein arm docking complex subunit 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1315828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:23806086|PMID:23849778|PMID:24033266|PMID:24088041|PMID:25741868|PMID:27637300|PMID:28492532|PMID:33577779 11852594 ZBTB7A zinc finger and BTB domain containing 7A gene DOID:13938 amenorrhea ISO RGD:1350408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11852594 ZBTB7A zinc finger and BTB domain containing 7A gene DOID:3068 glioblastoma ISO RGD:1350408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25875864 11852594 ZBTB7A zinc finger and BTB domain containing 7A gene DOID:630 genetic disease ISO RGD:1350408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852594 ZBTB7A zinc finger and BTB domain containing 7A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350408 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23727861 11852594 ZBTB7A zinc finger and BTB domain containing 7A gene DOID:9002875 MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN ISO RGD:1350408 D RGD:7240710 20220504 OMIM 11852594 ZBTB7A zinc finger and BTB domain containing 7A gene DOID:9002875 MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN ISO RGD:1350408 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin PMID:25741868|PMID:31645653|PMID:34515416 11852594 ZBTB7A zinc finger and BTB domain containing 7A gene DOID:9119 acute myeloid leukemia ISO RGD:1350408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27798625 11852622 SLC39A2 solute carrier family 39 member 2 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1314826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 11852622 SLC39A2 solute carrier family 39 member 2 gene DOID:630 genetic disease ISO RGD:1314826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852622 SLC39A2 solute carrier family 39 member 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1314826 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11852674 CPOX coproporphyrinogen oxidase gene DOID:13269 hereditary coproporphyria ISO RGD:1323470 D RGD:7240710 20180130 OMIM 11852674 CPOX coproporphyrinogen oxidase gene DOID:13269 hereditary coproporphyria ISO RGD:1323470 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary coproporphyria PMID:11309681|PMID:12181641|PMID:16159891|PMID:17576681|PMID:24078084|PMID:25741868|PMID:27959697|PMID:28492532|PMID:30385147|PMID:33763395|PMID:6886003|PMID:7757079|PMID:7987309|PMID:8286403|PMID:9454777|PMID:9536098|PMID:9888388 11852674 CPOX coproporphyrinogen oxidase gene DOID:3132 porphyria cutanea tarda ISO RGD:1323470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11831056 11852674 CPOX coproporphyrinogen oxidase gene DOID:3890 acute intermittent porphyria ISO RGD:1323470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute intermittent porphyria PMID:28492532 11852674 CPOX coproporphyrinogen oxidase gene DOID:409 liver disease susceptibility ISO RGD:1323470 D RGD:9068941 20200609 RGD Hereditary coproporphyria, OMIM:121300;DNA:transition: :p.G89S PMID:7849704|REF_RGD_ID:1600955 11852674 CPOX coproporphyrinogen oxidase gene DOID:630 genetic disease ISO RGD:1323470 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11852674 CPOX coproporphyrinogen oxidase gene DOID:9001983 Harderoporphyria ISO RGD:1323470 D RGD:7240710 20200805 OMIM 11852674 CPOX coproporphyrinogen oxidase gene DOID:9001983 Harderoporphyria ISO RGD:1323470 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Harderoporphyria PMID:16159891|PMID:21103937|PMID:24078084|PMID:25741868|PMID:28492532|PMID:6886003|PMID:7757079|PMID:7987309|PMID:8286403|PMID:9454777 11852674 CPOX coproporphyrinogen oxidase gene DOID:9002457 Experimental Arthritis ISO RGD:1311817 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:9173682|REF_RGD_ID:1600958 11852674 CPOX coproporphyrinogen oxidase gene DOID:9005584 Hepatic Porphyrias ISO RGD:1311817 D RGD:9068941 20200609 RGD protein:decreased activity:liver, mitochondrial inner membrane (rat) PMID:19482825|REF_RGD_ID:4144824 11852674 CPOX coproporphyrinogen oxidase gene DOID:9005794 Coproporphyria ISO RGD:1323470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Coproporphyria | ClinVar Annotator: match by term: Coproporphyria, digenic PMID:11309681|PMID:12181641|PMID:12227458|PMID:16398658|PMID:25741868|PMID:27959697|PMID:28492532|PMID:33763395|PMID:7987309|PMID:8159699|PMID:8286403|PMID:8990017|PMID:9843038 11852685 PLPP7 phospholipid phosphatase 7 (inactive) gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1314085 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11852685 PLPP7 phospholipid phosphatase 7 (inactive) gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1314085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 11852685 PLPP7 phospholipid phosphatase 7 (inactive) gene DOID:630 genetic disease ISO RGD:1314085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852691 ZUP1 zinc finger containing ubiquitin peptidase 1 gene DOID:0060163 body dysmorphic disorder ISO RGD:1316997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 11852691 ZUP1 zinc finger containing ubiquitin peptidase 1 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1316997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 11852691 ZUP1 zinc finger containing ubiquitin peptidase 1 gene DOID:1059 intellectual disability ISO RGD:1316997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 11852691 ZUP1 zinc finger containing ubiquitin peptidase 1 gene DOID:10907 microcephaly ISO RGD:1316997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 11852691 ZUP1 zinc finger containing ubiquitin peptidase 1 gene DOID:1826 epilepsy ISO RGD:1316997 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11852691 ZUP1 zinc finger containing ubiquitin peptidase 1 gene DOID:630 genetic disease ISO RGD:1316997 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852691 ZUP1 zinc finger containing ubiquitin peptidase 1 gene DOID:9000495 Tremor ISO RGD:1316997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 11852691 ZUP1 zinc finger containing ubiquitin peptidase 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11852719 MAP3K3 mitogen-activated protein kinase kinase kinase 3 gene DOID:470 verrucous keratotic hemangioma ISO RGD:1312092 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Verrucous hemangioma PMID:25741868 11852719 MAP3K3 mitogen-activated protein kinase kinase kinase 3 gene DOID:630 genetic disease ISO RGD:1312092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852719 MAP3K3 mitogen-activated protein kinase kinase kinase 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1312092 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17068819 11852743 CHRM5 cholinergic receptor muscarinic 5 gene DOID:0060001 withdrawal disorder ISO RGD:1350007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12154229 11852743 CHRM5 cholinergic receptor muscarinic 5 gene DOID:2717 Bloom syndrome ISO RGD:1350007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11852743 CHRM5 cholinergic receptor muscarinic 5 gene DOID:630 genetic disease ISO RGD:1350007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852743 CHRM5 cholinergic receptor muscarinic 5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1350007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:13130510 11852743 CHRM5 cholinergic receptor muscarinic 5 gene DOID:9256 colorectal cancer ISO RGD:1350007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11852753 PIH1D1 PIH1 domain containing 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1605995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11852753 PIH1D1 PIH1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1605995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852770 GABARAPL2 GABA type A receptor associated protein like 2 gene DOID:0110989 Joubert syndrome 20 ISO RGD:735450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 20 PMID:23012439|PMID:23349226|PMID:28492532 11852770 GABARAPL2 GABA type A receptor associated protein like 2 gene DOID:630 genetic disease ISO RGD:735450 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852778 SNRK SNF related kinase gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:735399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 11852778 SNRK SNF related kinase gene DOID:630 genetic disease ISO RGD:735399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852795 GORASP2 golgi reassembly stacking protein 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:736034 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11852795 GORASP2 golgi reassembly stacking protein 2 gene DOID:630 genetic disease ISO RGD:736034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852813 LOC100976433 keratin, type I cytoskeletal 17 gene DOID:0050449 pachyonychia congenita ISO RGD:1353171 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11852813 LOC100976433 keratin, type I cytoskeletal 17 gene DOID:0080082 nonsyndromic congenital nail disorder 4 ISO RGD:1353171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anonychia PMID:25741868 11852813 LOC100976433 keratin, type I cytoskeletal 17 gene DOID:0111556 steatocystoma multiplex ISO RGD:1353171 D RGD:7240710 20180130 OMIM 11852813 LOC100976433 keratin, type I cytoskeletal 17 gene DOID:0111556 steatocystoma multiplex ISO RGD:1353171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple sebaceous cysts | ClinVar Annotator: match by term: Steatocystoma multiplex PMID:11886499|PMID:14714564|PMID:19470054|PMID:22336949|PMID:2248894|PMID:24611874|PMID:25741868|PMID:25946540|PMID:26165312|PMID:28492532|PMID:29218738|PMID:29784039|PMID:31823354|PMID:7529318|PMID:9008238|PMID:9767294 11852813 LOC100976433 keratin, type I cytoskeletal 17 gene DOID:2121 ectodermal dysplasia susceptibility ISO RGD:1353171 D RGD:9068941 20200609 RGD protein:mutation: ; N92D; pachyonychia congenita, OMIM:167210 PMID:7539673|REF_RGD_ID:1600184 11852813 LOC100976433 keratin, type I cytoskeletal 17 gene DOID:2513 basal cell carcinoma ISO RGD:1353171 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20871598 11852813 LOC100976433 keratin, type I cytoskeletal 17 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1353171 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 11852813 LOC100976433 keratin, type I cytoskeletal 17 gene DOID:630 genetic disease ISO RGD:1353171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11852813 LOC100976433 keratin, type I cytoskeletal 17 gene DOID:9001341 Chloracne ISO RGD:1353171 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21237254 11852813 LOC100976433 keratin, type I cytoskeletal 17 gene DOID:9004213 Pachyonychia Congenita 2 ISO RGD:1353171 D RGD:7240710 20190327 OMIM 11852813 LOC100976433 keratin, type I cytoskeletal 17 gene DOID:9004213 Pachyonychia Congenita 2 ISO RGD:1353171 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pachyonychia congenita 2 PMID:10571744|PMID:11348474|PMID:11874497|PMID:11886499|PMID:14714564|PMID:19470054|PMID:22336949|PMID:2248894|PMID:24611874|PMID:25741868|PMID:25946540|PMID:26165312|PMID:28492532|PMID:29218738|PMID:29784039|PMID:31823354|PMID:3954955|PMID:7529318|PMID:7539673|PMID:9008238|PMID:9767294 11852813 LOC100976433 keratin, type I cytoskeletal 17 gene DOID:9004464 Skin Neoplasms ISO RGD:1353171 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26168014 11852813 LOC100976433 keratin, type I cytoskeletal 17 gene DOID:9008109 Sebocystomatosis ISO RGD:1353171 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sebocystomatosis PMID:22336949|PMID:2248894|PMID:25741868|PMID:28492532|PMID:31823354|PMID:7529318|PMID:9008238|PMID:9767294 11852826 NBPF11 NBPF member 11 gene DOID:0060435 chromosome 1q21.1 duplication syndrome ISO RGD:1603883 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome 11852826 NBPF11 NBPF member 11 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1603883 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 11852826 NBPF11 NBPF member 11 gene DOID:1540 parathyroid carcinoma ISO RGD:1603883 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11852826 NBPF11 NBPF member 11 gene DOID:5419 schizophrenia ISO RGD:1603883 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11852826 NBPF11 NBPF member 11 gene DOID:630 genetic disease ISO RGD:1603883 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852826 NBPF11 NBPF member 11 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603883 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11852845 CCNYL1 cyclin Y like 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1606146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11852845 CCNYL1 cyclin Y like 1 gene DOID:630 genetic disease ISO RGD:1606146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852845 CCNYL1 cyclin Y like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11852860 GALR1 galanin receptor 1 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:735654 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11852860 GALR1 galanin receptor 1 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:735654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 11852860 GALR1 galanin receptor 1 gene DOID:1470 major depressive disorder ISO RGD:735654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27940914 11852860 GALR1 galanin receptor 1 gene DOID:630 genetic disease ISO RGD:735654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852860 GALR1 galanin receptor 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:735654 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 11852860 GALR1 galanin receptor 1 gene DOID:8445 intestinal volvulus ISO RGD:735654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11852860 GALR1 galanin receptor 1 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:735654 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 11852860 GALR1 galanin receptor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11852860 GALR1 galanin receptor 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:735654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11852860 GALR1 galanin receptor 1 gene DOID:9970 obesity no_association ISO RGD:735654 D RGD:9068941 20200609 RGD PMID:15930442|REF_RGD_ID:1625748 11852866 ABCC12 ATP binding cassette subfamily C member 12 gene DOID:0111041 glycogen storage disease IXb ISO RGD:1342698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 11852866 ABCC12 ATP binding cassette subfamily C member 12 gene DOID:4961 bone marrow disease ISO RGD:1342698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18466103 11852866 ABCC12 ATP binding cassette subfamily C member 12 gene DOID:630 genetic disease ISO RGD:1342698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852866 ABCC12 ATP binding cassette subfamily C member 12 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1342698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18466103 11852929 FURIN furin, paired basic amino acid cleaving enzyme gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1323167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 11852929 FURIN furin, paired basic amino acid cleaving enzyme gene DOID:2349 arteriosclerosis ISO RGD:1323167 D RGD:9068941 20200609 RGD PMID:15756593|REF_RGD_ID:1582622 11852929 FURIN furin, paired basic amino acid cleaving enzyme gene DOID:2717 Bloom syndrome ISO RGD:1323167 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11852929 FURIN furin, paired basic amino acid cleaving enzyme gene DOID:305 carcinoma ISO RGD:1323167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 11852929 FURIN furin, paired basic amino acid cleaving enzyme gene DOID:3393 coronary artery disease ISO RGD:1323167 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 11852929 FURIN furin, paired basic amino acid cleaving enzyme gene DOID:630 genetic disease ISO RGD:1323167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852929 FURIN furin, paired basic amino acid cleaving enzyme gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1323167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 11852929 FURIN furin, paired basic amino acid cleaving enzyme gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1323167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 11852929 FURIN furin, paired basic amino acid cleaving enzyme gene DOID:9005643 Experimental Diabetes Mellitus disease_progression ISO RGD:3274 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:16541018|REF_RGD_ID:1582625 11852955 CD300E CD300e molecule gene DOID:630 genetic disease ISO RGD:1605230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852963 PCARE photoreceptor cilium actin regulator gene DOID:0050572 cone-rod dystrophy ISO RGD:2298744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:20398886|PMID:24339724|PMID:26496393|PMID:28492532|PMID:28763557 11852963 PCARE photoreceptor cilium actin regulator gene DOID:0050817 Stargardt disease ISO RGD:2298744 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:20398884|PMID:20398886|PMID:24339724|PMID:26496393|PMID:28492532|PMID:32312818|PMID:4543597 11852963 PCARE photoreceptor cilium actin regulator gene DOID:0110364 retinitis pigmentosa 54 ISO RGD:2298744 D RGD:7240710 20180130 OMIM 11852963 PCARE photoreceptor cilium actin regulator gene DOID:0110364 retinitis pigmentosa 54 ISO RGD:2298744 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 23 | ClinVar Annotator: match by term: Retinitis pigmentosa 54 PMID:20398884|PMID:20398886|PMID:20811058|PMID:21412943|PMID:24339724|PMID:25741868|PMID:26496393|PMID:27353947|PMID:28041643|PMID:28492532|PMID:28763557|PMID:31725702|PMID:31819343|PMID:31872526|PMID:32312818|PMID:33546218|PMID:33576794|PMID:4543597 11852963 PCARE photoreceptor cilium actin regulator gene DOID:10584 retinitis pigmentosa ISO RGD:2298744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20398884|PMID:20398886|PMID:20811058|PMID:21412943|PMID:23105016|PMID:24339724|PMID:24780881|PMID:25741868|PMID:26306921|PMID:26496393|PMID:26497376|PMID:27353947|PMID:28041643|PMID:28492532|PMID:28763557|PMID:30054919|PMID:30718709|PMID:31725702|PMID:33546218 11852963 PCARE photoreceptor cilium actin regulator gene DOID:8501 fundus dystrophy ISO RGD:2298744 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20398886|PMID:21412943|PMID:23105016|PMID:24339724|PMID:25741868|PMID:26496393|PMID:27353947|PMID:28041643|PMID:28492532|PMID:28763557|PMID:33546218|PMID:33576794 11852963 PCARE photoreceptor cilium actin regulator gene DOID:9009095 Neuroblastoma 3 ISO RGD:2298744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 PMID:28492532 11852968 CLPX caseinolytic mitochondrial matrix peptidase chaperone subunit X gene DOID:0110935 nemaline myopathy 6 ISO RGD:1312578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11852968 CLPX caseinolytic mitochondrial matrix peptidase chaperone subunit X gene DOID:2717 Bloom syndrome ISO RGD:1312578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11852968 CLPX caseinolytic mitochondrial matrix peptidase chaperone subunit X gene DOID:630 genetic disease ISO RGD:1312578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11852968 CLPX caseinolytic mitochondrial matrix peptidase chaperone subunit X gene DOID:9009003 Erythropoietic Protoporphyria 2 ISO RGD:1312578 D RGD:7240710 20190315 OMIM 11852968 CLPX caseinolytic mitochondrial matrix peptidase chaperone subunit X gene DOID:9009003 Erythropoietic Protoporphyria 2 ISO RGD:1312578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 2 PMID:25741868|PMID:28492532|PMID:28874591 11852968 CLPX caseinolytic mitochondrial matrix peptidase chaperone subunit X gene DOID:9256 colorectal cancer ISO RGD:1312578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11852987 MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1 gene DOID:0050444 infantile Refsum disease ISO RGD:733615 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 11852987 MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:733615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11852987 MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1 gene DOID:1059 intellectual disability ISO RGD:733615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11852987 MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1 gene DOID:630 genetic disease ISO RGD:733615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11852987 MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1 gene DOID:905 Zellweger syndrome ISO RGD:733615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 11852987 MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733615 D RGD:7240710 20180130 OMIM 11852987 MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to PMID:10700186 11853005 NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:0050437 Danon disease ISO RGD:1350497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 11853005 NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1350497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:19185523|PMID:21596602|PMID:23871722|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28794991|PMID:29353736|PMID:31288420 11853005 NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11853005 NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1350497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 11853005 NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1350497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 11853005 NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:0111868 nonphotosensitive trichothiodystrophy 5 ISO RGD:1350497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 5, nonphotosensitive PMID:25741868 11853005 NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:0112099 nuclear type mitochondrial complex I deficiency 12 ISO RGD:1350497 D RGD:7240710 20190315 OMIM 11853005 NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:0112099 nuclear type mitochondrial complex I deficiency 12 ISO RGD:1350497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 PMID:17262856|PMID:19185523|PMID:21596602|PMID:23871722|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28794991|PMID:29353736|PMID:31288420 11853005 NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:12849 autistic disorder ISO RGD:1350497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11853005 NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:630 genetic disease ISO RGD:1350497 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19185523|PMID:21596602|PMID:23871722|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28794991|PMID:29353736|PMID:31288420 11853012 SND1 staphylococcal nuclease and tudor domain containing 1 gene DOID:10892 hypospadias ISO RGD:733231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypospadias PMID:25741868 11853012 SND1 staphylococcal nuclease and tudor domain containing 1 gene DOID:12849 autistic disorder ISO RGD:733231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior 11853012 SND1 staphylococcal nuclease and tudor domain containing 1 gene DOID:2843 long QT syndrome ISO RGD:733231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11853012 SND1 staphylococcal nuclease and tudor domain containing 1 gene DOID:3307 teratoma ISO RGD:733231 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 11853012 SND1 staphylococcal nuclease and tudor domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11853012 SND1 staphylococcal nuclease and tudor domain containing 1 gene DOID:630 genetic disease ISO RGD:733231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11853012 SND1 staphylococcal nuclease and tudor domain containing 1 gene DOID:9005172 Lung Neoplasms ISO RGD:733231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25940438 11853040 BRINP2 BMP/retinoic acid inducible neural specific 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1605645 D RGD:9068941 20200609 RGD DNA:amplication:oral epithelium PMID:21334929|REF_RGD_ID:14398483 11853040 BRINP2 BMP/retinoic acid inducible neural specific 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1605645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11853040 BRINP2 BMP/retinoic acid inducible neural specific 2 gene DOID:630 genetic disease ISO RGD:1605645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11853040 BRINP2 BMP/retinoic acid inducible neural specific 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1605645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11853040 BRINP2 BMP/retinoic acid inducible neural specific 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11853058 CLMN calmin gene DOID:630 genetic disease ISO RGD:1315532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11853081 GP9 glycoprotein IX platelet gene DOID:0111947 immunodeficiency 21 ISO RGD:1351167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 11853081 GP9 glycoprotein IX platelet gene DOID:1588 thrombocytopenia ISO RGD:1351167 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:14510954|PMID:25370924|PMID:25741868|PMID:28131619|PMID:28492532|PMID:28765788|PMID:31064749|PMID:8049428|PMID:8481514 11853081 GP9 glycoprotein IX platelet gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1351167 D RGD:7240710 20180130 OMIM 11853081 GP9 glycoprotein IX platelet gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1351167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome | ClinVar Annotator: match by term: Von Willebrand factor receptor deficiency PMID:11167791|PMID:14510954|PMID:21173099|PMID:21699652|PMID:23402648|PMID:25370924|PMID:25539746|PMID:25741868|PMID:28131619|PMID:28395735|PMID:28492532|PMID:28561420|PMID:28765788|PMID:29636940|PMID:31064749|PMID:32581362|PMID:34355501|PMID:8049428|PMID:8481514|PMID:9163595|PMID:9432024 11853081 GP9 glycoprotein IX platelet gene DOID:2217 Bernard-Soulier syndrome severity ISO RGD:1351167 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:c.182A>G(p.N61S)(human) PMID:28131619|REF_RGD_ID:13464128 11853081 GP9 glycoprotein IX platelet gene DOID:630 genetic disease ISO RGD:1351167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11853081 GP9 glycoprotein IX platelet gene DOID:9001316 Bernard-Soulier Syndrome, Type C ISO RGD:1351167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bernard-Soulier syndrome type C PMID:11167791|PMID:12100158|PMID:13442197|PMID:14510954|PMID:21173099|PMID:21699652|PMID:23402648|PMID:25370924|PMID:25539746|PMID:25741868|PMID:28131619|PMID:28395735|PMID:28492532|PMID:28765788|PMID:29636940|PMID:31064749|PMID:32581362|PMID:34355501|PMID:8049428|PMID:8481514|PMID:9163595|PMID:9432024|PMID:9886312 11853081 GP9 glycoprotein IX platelet gene DOID:9005876 Thrombocytopenic Purpura ISO RGD:1351167 D RGD:9068941 20200609 RGD PMID:23103637|REF_RGD_ID:11040532 11853081 GP9 glycoprotein IX platelet gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1351167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 11853081 GP9 glycoprotein IX platelet gene DOID:9270 alkaptonuria ISO RGD:1351167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11853089 MORN3 MORN repeat containing 3 gene DOID:630 genetic disease ISO RGD:1603521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11853099 CRAMP1 cramped chromatin regulator homolog 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1323669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 11853099 CRAMP1 cramped chromatin regulator homolog 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1323669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11853099 CRAMP1 cramped chromatin regulator homolog 1 gene DOID:1826 epilepsy ISO RGD:1323669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11853099 CRAMP1 cramped chromatin regulator homolog 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1323669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11853099 CRAMP1 cramped chromatin regulator homolog 1 gene DOID:630 genetic disease ISO RGD:1323669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11853124 PTN pleiotrophin gene DOID:11446 sciatic neuropathy ISO RGD:3444 D RGD:9068941 20200609 RGD mRNA:altered expression:dorsal root ganglia (rat) PMID:18365878|REF_RGD_ID:9831453 11853124 PTN pleiotrophin gene DOID:11832 visual epilepsy ISO RGD:3444 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus, piriform cortex (rat) PMID:8453763|REF_RGD_ID:9831456 11853124 PTN pleiotrophin gene DOID:13619 extrahepatic cholestasis ISO RGD:3444 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:18225978|REF_RGD_ID:2316551 11853124 PTN pleiotrophin gene DOID:14330 Parkinson's disease treatment ISO RGD:3444 D RGD:9068941 20200609 RGD PMID:19615368|REF_RGD_ID:10044022 11853124 PTN pleiotrophin gene DOID:224 transient cerebral ischemia ISO RGD:3444 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex, vasculature, macrophage (rat) PMID:9570800|REF_RGD_ID:9831440 11853124 PTN pleiotrophin gene DOID:305 carcinoma ISO RGD:736479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11853124 PTN pleiotrophin gene DOID:3068 glioblastoma ISO RGD:736479 D RGD:9068941 20220310 RGD protein:increased expression:brain (human) PMID:14692702|REF_RGD_ID:151660507 11853124 PTN pleiotrophin gene DOID:3950 adrenal carcinoma ISO RGD:736479 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:1464602|REF_RGD_ID:9831442 11853124 PTN pleiotrophin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11853124 PTN pleiotrophin gene DOID:5082 liver cirrhosis ISO RGD:3444 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:18381592|REF_RGD_ID:9834946 11853124 PTN pleiotrophin gene DOID:5844 myocardial infarction ISO RGD:3444 D RGD:9068941 20200609 RGD protein:increased expression:myocardium (rat) PMID:17925408|REF_RGD_ID:10044023 11853124 PTN pleiotrophin gene DOID:630 genetic disease ISO RGD:736479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11853124 PTN pleiotrophin gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11853124 PTN pleiotrophin gene DOID:9000641 Pain severity ISO RGD:11190 D RGD:9068941 20200609 RGD PMID:20826137|REF_RGD_ID:10043829 11853124 PTN pleiotrophin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11853124 PTN pleiotrophin gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3444 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord (rat) PMID:9814819|REF_RGD_ID:9831448 11853124 PTN pleiotrophin gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3444 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle (rat) PMID:21224495|REF_RGD_ID:10043833 11853124 PTN pleiotrophin gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11853124 PTN pleiotrophin gene DOID:9007633 Body Weight ISO RGD:736479 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36566969 11853124 PTN pleiotrophin gene DOID:9008444 Skeletal Muscle Injuries ISO RGD:3444 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:soleus muscle (rat) PMID:15160487|REF_RGD_ID:10044016 11853135 BLVRB biliverdin reductase B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1314490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11853135 BLVRB biliverdin reductase B gene DOID:1342 congenital hypoplastic anemia ISO RGD:1314490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11853135 BLVRB biliverdin reductase B gene DOID:2340 craniosynostosis ISO RGD:1314490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11853135 BLVRB biliverdin reductase B gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1314490 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 11853135 BLVRB biliverdin reductase B gene DOID:630 genetic disease ISO RGD:1314490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11853135 BLVRB biliverdin reductase B gene DOID:9000217 Stomach Neoplasms ISO RGD:1314490 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 11853135 BLVRB biliverdin reductase B gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1314490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11853135 BLVRB biliverdin reductase B gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1314490 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11853135 BLVRB biliverdin reductase B gene DOID:9269 maple syrup urine disease ISO RGD:1314490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11853144 PHF13 PHD finger protein 13 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1317748 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11853144 PHF13 PHD finger protein 13 gene DOID:630 genetic disease ISO RGD:1317748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11853144 PHF13 PHD finger protein 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11853152 PGAP2 post-GPI attachment to proteins 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11853152 PGAP2 post-GPI attachment to proteins 2 gene DOID:0060041 autism spectrum disorder ISO RGD:733101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11853152 PGAP2 post-GPI attachment to proteins 2 gene DOID:0060327 omphalocele ISO RGD:733101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Omphalocoele PMID:25741868 11853152 PGAP2 post-GPI attachment to proteins 2 gene DOID:0060354 Stormorken syndrome ISO RGD:733101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stormorken syndrome PMID:28492532 11853152 PGAP2 post-GPI attachment to proteins 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:733101 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11853152 PGAP2 post-GPI attachment to proteins 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11853152 PGAP2 post-GPI attachment to proteins 2 gene DOID:630 genetic disease ISO RGD:733101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23561847|PMID:25741868|PMID:28492532|PMID:9536098 11853152 PGAP2 post-GPI attachment to proteins 2 gene DOID:9000867 Hyperphosphatasia with Mental Retardation Syndrome 3 ISO RGD:733101 D RGD:7240710 20180130 OMIM 11853152 PGAP2 post-GPI attachment to proteins 2 gene DOID:9000867 Hyperphosphatasia with Mental Retardation Syndrome 3 ISO RGD:733101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 8 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 3 PMID:21629298|PMID:21643797|PMID:23561846|PMID:23561847|PMID:25741868|PMID:25741869 11853152 PGAP2 post-GPI attachment to proteins 2 gene DOID:9005616 Micrognathism ISO RGD:733101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:25741868 11853192 AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 gene DOID:0050553 JMP syndrome ISO RGD:1348475 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11853192 AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 gene DOID:13641 exfoliation syndrome ISO RGD:1348475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28553957 11853192 AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 gene DOID:630 genetic disease ISO RGD:1348475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11853223 CACNB1 calcium voltage-gated channel auxiliary subunit beta 1 gene DOID:630 genetic disease ISO RGD:68552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11853245 TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1603312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30021165|PMID:31616000 11853245 TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:0080462 developmental and epileptic encephalopathy 7 ISO RGD:1603312 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 7 PMID:25741868 11853245 TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:1059 intellectual disability ISO RGD:1603312 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23033978|PMID:25741868|PMID:28754924|PMID:30021165|PMID:31616000 11853245 TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:1826 epilepsy ISO RGD:1603312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:31616000 11853245 TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:5419 schizophrenia ISO RGD:1603312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:31616000 11853245 TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:630 genetic disease ISO RGD:1603312 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23033978|PMID:25741868|PMID:28518168|PMID:28754924|PMID:30021165|PMID:31616000|PMID:32461654|PMID:33875846 11853245 TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:31616000 11853245 TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1603312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:31616000 11853245 TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:9008432 INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES ISO RGD:1603312 D RGD:7240710 20201216 OMIM 11853245 TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:9008432 INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES ISO RGD:1603312 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITH SEIZURES | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES | ClinVar Annotator: match by term: Intellectual developmental disorder with autistic features and language delay, with or without seizures PMID:23033978|PMID:25741868|PMID:28492532|PMID:28754924|PMID:30021165|PMID:31616000 11853283 CALU calumenin gene DOID:0060224 atrial fibrillation ISO RGD:733017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 11853283 CALU calumenin gene DOID:0080199 colorectal carcinoma ISO RGD:733017 D RGD:9068941 20200609 RGD mRNA:increased expression:colon (human) PMID:18776587|REF_RGD_ID:2316232 11853283 CALU calumenin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11853283 CALU calumenin gene DOID:630 genetic disease ISO RGD:733017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11853283 CALU calumenin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:733017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 11853283 CALU calumenin gene DOID:9008582 Developmental Disease ISO RGD:733017 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11853302 GPR182 G protein-coupled receptor 182 gene DOID:630 genetic disease ISO RGD:736455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11853302 GPR182 G protein-coupled receptor 182 gene DOID:6432 pulmonary hypertension ISO RGD:61903 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:12622928|REF_RGD_ID:1625768 11853302 GPR182 G protein-coupled receptor 182 gene DOID:684 hepatocellular carcinoma ISO RGD:736455 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11853316 MDGA1 MAM domain containing glycosylphosphatidylinositol anchor 1 gene DOID:630 genetic disease ISO RGD:1315985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11853316 MDGA1 MAM domain containing glycosylphosphatidylinositol anchor 1 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:1315985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia 11853341 DUSP8 dual specificity phosphatase 8 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11853341 DUSP8 dual specificity phosphatase 8 gene DOID:0080773 delta beta-thalassemia ISO RGD:1315032 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11853341 DUSP8 dual specificity phosphatase 8 gene DOID:0111969 immunodeficiency 39 ISO RGD:1315032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11853341 DUSP8 dual specificity phosphatase 8 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11853341 DUSP8 dual specificity phosphatase 8 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1315032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11853341 DUSP8 dual specificity phosphatase 8 gene DOID:630 genetic disease ISO RGD:1315032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11853341 DUSP8 dual specificity phosphatase 8 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1315032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11853352 IFNB1 interferon beta 1 gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:1552719 D RGD:9068941 20201211 RGD PMID:15670795|REF_RGD_ID:40902819 11853352 IFNB1 interferon beta 1 gene DOID:0080599 Coronavirus infectious disease ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24323636 11853352 IFNB1 interferon beta 1 gene DOID:0080600 COVID-19 treatment ISO RGD:736615 D RGD:9068941 20200618 RGD PMID:32401715|REF_RGD_ID:30296675 11853352 IFNB1 interferon beta 1 gene DOID:0080642 Middle East respiratory syndrome disease_progression ISO RGD:1552719 D RGD:9068941 20200618 RGD PMID:30626685|REF_RGD_ID:30309198 11853352 IFNB1 interferon beta 1 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:736615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 11853352 IFNB1 interferon beta 1 gene DOID:11054 urinary bladder cancer ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2297754 11853352 IFNB1 interferon beta 1 gene DOID:1909 melanoma ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16928243|PMID:21846298 11853352 IFNB1 interferon beta 1 gene DOID:2043 hepatitis B ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15994231 11853352 IFNB1 interferon beta 1 gene DOID:2377 multiple sclerosis ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10520943|PMID:12424511|PMID:12432978|PMID:23517930|PMID:27806875 11853352 IFNB1 interferon beta 1 gene DOID:2671 transitional cell carcinoma ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2297754 11853352 IFNB1 interferon beta 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1552719 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 11853352 IFNB1 interferon beta 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15200845|PMID:26861016 11853352 IFNB1 interferon beta 1 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1552719 D RGD:9068941 20200702 RGD PMID:32553273|REF_RGD_ID:32716426 11853352 IFNB1 interferon beta 1 gene DOID:4359 amelanotic melanoma ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15990972 11853352 IFNB1 interferon beta 1 gene DOID:4551 anus benign neoplasm ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12170190|PMID:12397731 11853352 IFNB1 interferon beta 1 gene DOID:5419 schizophrenia ISO RGD:736615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11853352 IFNB1 interferon beta 1 gene DOID:630 genetic disease ISO RGD:736615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11853352 IFNB1 interferon beta 1 gene DOID:769 neuroblastoma ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16115947 11853352 IFNB1 interferon beta 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2297754 11853352 IFNB1 interferon beta 1 gene DOID:9004118 Experimental Melanoma ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16417267 11853352 IFNB1 interferon beta 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18608205 11853352 IFNB1 interferon beta 1 gene DOID:936 brain disease ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8615598 11853357 CFL1 cofilin 1 gene DOID:0050562 West syndrome ISO RGD:69285 D RGD:9068941 20200609 RGD protein:decreased expression:brain (rat) PMID:24994451|REF_RGD_ID:11570411 11853357 CFL1 cofilin 1 gene DOID:0050731 vitamin B12 deficiency ISO RGD:69285 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:25982389|REF_RGD_ID:11352764 11853357 CFL1 cofilin 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:732970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11853357 CFL1 cofilin 1 gene DOID:0080016 spina bifida ISO RGD:732970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17352815 11853357 CFL1 cofilin 1 gene DOID:1059 intellectual disability ISO RGD:732970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11853357 CFL1 cofilin 1 gene DOID:11457 brain compression treatment ISO RGD:732970 D RGD:9068941 20200609 RGD PMID:25708984|REF_RGD_ID:12738361 11853357 CFL1 cofilin 1 gene DOID:1184 nephrotic syndrome treatment ISO RGD:69285 D RGD:9068941 20200609 RGD PMID:24737737|REF_RGD_ID:11570418 11853357 CFL1 cofilin 1 gene DOID:1824 status epilepticus treatment ISO RGD:69285 D RGD:9068941 20200609 RGD PMID:27642592|REF_RGD_ID:11568691 11853357 CFL1 cofilin 1 gene DOID:1875 impotence ISO RGD:69285 D RGD:9068941 20200609 RGD protein:increased phosphorylation:corpus cavernosum penis (rat) PMID:25923835|REF_RGD_ID:11568706 11853357 CFL1 cofilin 1 gene DOID:1875 impotence treatment ISO RGD:69285 D RGD:9068941 20200609 RGD PMID:25444982|REF_RGD_ID:11570410 11853357 CFL1 cofilin 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11853357 CFL1 cofilin 1 gene DOID:2746 glycogen storage disease V ISO RGD:732970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11853357 CFL1 cofilin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 11853357 CFL1 cofilin 1 gene DOID:4948 gallbladder carcinoma severity ISO RGD:732970 D RGD:9068941 20200609 RGD Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human) PMID:23320827|REF_RGD_ID:11571623 11853357 CFL1 cofilin 1 gene DOID:5199 ureteral obstruction ISO RGD:69285 D RGD:9068941 20200609 RGD protein:increased expression:inner medulla of kidney (rat) PMID:24761003|REF_RGD_ID:11570413 11853357 CFL1 cofilin 1 gene DOID:5844 myocardial infarction treatment ISO RGD:69285 D RGD:9068941 20200609 RGD PMID:24292258|REF_RGD_ID:11570534 11853357 CFL1 cofilin 1 gene DOID:630 genetic disease ISO RGD:732970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11853357 CFL1 cofilin 1 gene DOID:767 muscular atrophy ISO RGD:69285 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:gastrocnemius (rat) PMID:24711688|REF_RGD_ID:11570530 11853357 CFL1 cofilin 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 11853357 CFL1 cofilin 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69285 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased phosphorylation:renal glomerulus (rat) PMID:24726496|REF_RGD_ID:11570419 11853357 CFL1 cofilin 1 gene DOID:9002211 Hyperalgesia ISO RGD:69285 D RGD:9068941 20200609 RGD protein:increased phosphorylation:dorsal root ganglion (rat) PMID:24962708|REF_RGD_ID:11570412 11853357 CFL1 cofilin 1 gene DOID:9003234 Hypertensive Nephropathy ISO RGD:69285 D RGD:9068941 20200609 RGD protein:increased phosphorylation:kidney (rat) PMID:26450610|REF_RGD_ID:11520804 11853357 CFL1 cofilin 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:732970 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11853357 CFL1 cofilin 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 11853357 CFL1 cofilin 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:69285 D RGD:9068941 20200609 RGD protein:altered expression:striatum (rat) PMID:27018876|REF_RGD_ID:11568696 11853357 CFL1 cofilin 1 gene DOID:9005968 Neuralgia treatment ISO RGD:69285 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:27216618|REF_RGD_ID:11568694 11853357 CFL1 cofilin 1 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:69285 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:27576917|REF_RGD_ID:11568692 11853357 CFL1 cofilin 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:732970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 11853357 CFL1 cofilin 1 gene DOID:9008091 Optic Nerve Injuries treatment ISO RGD:69285 D RGD:9068941 20200609 RGD PMID:27443501|REF_RGD_ID:11568693 11853357 CFL1 cofilin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 11853415 SLC12A2 solute carrier family 12 member 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732816 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11853415 SLC12A2 solute carrier family 12 member 2 gene DOID:0112159 autosomal dominant nonsyndromic deafness 78 ISO RGD:732816 D RGD:7240710 20201111 OMIM 11853415 SLC12A2 solute carrier family 12 member 2 gene DOID:0112159 autosomal dominant nonsyndromic deafness 78 ISO RGD:732816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 78 PMID:32294086|PMID:32658972 11853415 SLC12A2 solute carrier family 12 member 2 gene DOID:10003 sensorineural hearing loss ISO RGD:732816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868|PMID:28492532|PMID:34374074 11853415 SLC12A2 solute carrier family 12 member 2 gene DOID:1059 intellectual disability ISO RGD:732816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11853415 SLC12A2 solute carrier family 12 member 2 gene DOID:10603 glucose intolerance ISO RGD:732816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22872759 11853415 SLC12A2 solute carrier family 12 member 2 gene DOID:10763 hypertension ISO RGD:620809 D RGD:9068941 20200609 RGD PMID:21814290|REF_RGD_ID:9587757 11853415 SLC12A2 solute carrier family 12 member 2 gene DOID:10763 hypertension ISO RGD:620809 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:15020309|REF_RGD_ID:1580582 11853415 SLC12A2 solute carrier family 12 member 2 gene DOID:10763 hypertension ISO RGD:732816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17259435 11853415 SLC12A2 solute carrier family 12 member 2 gene DOID:11832 visual epilepsy treatment ISO RGD:620809 D RGD:9068941 20200609 RGD PMID:16227993|REF_RGD_ID:1580584 11853415 SLC12A2 solute carrier family 12 member 2 gene DOID:1287 cardiovascular system disease ISO RGD:732816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15135928 11853415 SLC12A2 solute carrier family 12 member 2 gene DOID:1826 epilepsy ISO RGD:732816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18550034 11853415 SLC12A2 solute carrier family 12 member 2 gene DOID:224 transient cerebral ischemia ISO RGD:620809 D RGD:9068941 20200609 RGD PMID:27798271|REF_RGD_ID:14398833 11853415 SLC12A2 solute carrier family 12 member 2 gene DOID:305 carcinoma ISO RGD:732816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11853415 SLC12A2 solute carrier family 12 member 2 gene DOID:3328 temporal lobe epilepsy ISO RGD:732816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19674083 11853415 SLC12A2 solute carrier family 12 member 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:732816 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:27798271|REF_RGD_ID:14398833 11853415 SLC12A2 solute carrier family 12 member 2 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:620809 D RGD:9068941 20200609 RGD PMID:12535773|REF_RGD_ID:1580583 11853415 SLC12A2 solute carrier family 12 member 2 gene DOID:480 movement disease ISO RGD:732816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15135928 11853415 SLC12A2 solute carrier family 12 member 2 gene DOID:630 genetic disease ISO RGD:732816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28940097|PMID:30740830|PMID:32754646|PMID:33345190 11853415 SLC12A2 solute carrier family 12 member 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:732816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11853415 SLC12A2 solute carrier family 12 member 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11853415 SLC12A2 solute carrier family 12 member 2 gene DOID:9002906 Multiple Organ Failure ISO RGD:732816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infant onset multiple organ failure 11853415 SLC12A2 solute carrier family 12 member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11853415 SLC12A2 solute carrier family 12 member 2 gene DOID:9004538 Hearing Loss ISO RGD:732816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing loss PMID:32294086|PMID:32658972 11853415 SLC12A2 solute carrier family 12 member 2 gene DOID:9004923 Delpire-McNeill Syndrome ISO RGD:732816 D RGD:7240710 20201111 OMIM 11853415 SLC12A2 solute carrier family 12 member 2 gene DOID:9004923 Delpire-McNeill Syndrome ISO RGD:732816 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Delpire-McNeill syndrome PMID:25741868|PMID:32658972 11853415 SLC12A2 solute carrier family 12 member 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11853415 SLC12A2 solute carrier family 12 member 2 gene DOID:9006128 Kilquist Syndrome ISO RGD:732816 D RGD:7240710 20201111 OMIM 11853415 SLC12A2 solute carrier family 12 member 2 gene DOID:9006128 Kilquist Syndrome ISO RGD:732816 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Kilquist syndrome PMID:25741868|PMID:28492532|PMID:30740830|PMID:32658972|PMID:32754646 11853415 SLC12A2 solute carrier family 12 member 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 11853415 SLC12A2 solute carrier family 12 member 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732816 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11853447 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0050770 polycystic liver disease ISO RGD:1318266 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:16876319|PMID:19176689|PMID:19914852|PMID:19940839|PMID:20413436|PMID:20460933|PMID:21228398|PMID:21274727|PMID:22415584|PMID:24162162|PMID:24984783|PMID:25124979|PMID:25193386|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26489027|PMID:26489029|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28375157|PMID:28492532|PMID:28578020|PMID:28862642|PMID:29801666|PMID:30275481|PMID:30507656|PMID:30650191|PMID:30773290|PMID:31130284|PMID:31589614|PMID:31738409|PMID:31844813|PMID:31980526|PMID:32359821|PMID:32384486|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:33112055|PMID:33123899|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33845788|PMID:33940108 11853447 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0050876 Caroli disease ISO RGD:1318266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Caroli disease PMID:1189128|PMID:11898128|PMID:12846734|PMID:12874454|PMID:15108277|PMID:15108281|PMID:15698423|PMID:15805161|PMID:16133180|PMID:19914852|PMID:20413436|PMID:21228398|PMID:25701400|PMID:25741868|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27894351|PMID:28492530|PMID:28492532|PMID:30343465|PMID:30773290|PMID:31130284|PMID:31844813|PMID:31980526|PMID:32359821|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815 11853447 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0080212 polycystic kidney disease 4 ISO RGD:1318266 D RGD:7240710 20180523 OMIM 11853447 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0080212 polycystic kidney disease 4 ISO RGD:1318266 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I | ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:12925574|PMID:14741187|PMID:14971004|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16199547|PMID:16523049|PMID:16632497|PMID:16876319|PMID:17576681|PMID:18414213|PMID:18503009|PMID:19021639|PMID:19176689|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:20460933|PMID:21228398|PMID:21274727|PMID:21493627|PMID:22034641|PMID:22415584|PMID:22882926|PMID:23389334|PMID:23582048|PMID:24033266|PMID:24162162|PMID:24710345|PMID:24984783|PMID:25034658|PMID:25114813|PMID:25124979|PMID:25153916|PMID:25193386|PMID:25525159|PMID:25589618|PMID:25646624|PMID:25701400|PMID:25741868|PMID:25741895|PMID:25771912|PMID:25966130|PMID:26139440|PMID:26385851|PMID:26489027|PMID:26489029|PMID:26633542|PMID:26673778|PMID:26695994|PMID:26721323|PMID:26862157|PMID:27151922|PMID:27225849|PMID:27491411|PMID:27577217|PMID:27595491|PMID:27752906|PMID:27894351|PMID:28166811|PMID:28170084|PMID:28364132|PMID:28375157|PMID:28492532|PMID:28578020|PMID:28851938|PMID:28862642|PMID:28933340|PMID:29095814|PMID:29520754|PMID:29643536|PMID:29801666|PMID:29947050|PMID:29956005|PMID:30275481|PMID:30343465|PMID:30507656|PMID:30586318|PMID:30595564|PMID:30650191|PMID:30655312|PMID:30773290|PMID:30787879|PMID:31010483|PMID:31130284|PMID:31395954|PMID:31589614|PMID:31730820|PMID:31738409|PMID:31813136|PMID:31844813|PMID:31938409|PMID:31980526|PMID:32203225|PMID:32256442|PMID:32359821|PMID:32384486|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32576985|PMID:32799815|PMID:32901917|PMID:32939031|PMID:33059727|PMID:33112055|PMID:33123899|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33569422|PMID:33716212|PMID:33845788|PMID:33940108|PMID:34008892|PMID:34032358|PMID:34536170|PMID:35627109|PMID:35812281|PMID:9536098 11853447 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0080322 polycystic kidney disease ISO RGD:1318266 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:16632497|PMID:16876319|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:21228398|PMID:21274727|PMID:21790888|PMID:22882926|PMID:23041322|PMID:23582048|PMID:23757202|PMID:24033266|PMID:24162162|PMID:25124979|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28862642|PMID:29801666|PMID:29956005|PMID:30343465|PMID:30773290|PMID:31130284|PMID:31813136|PMID:31844813|PMID:31980526|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:33112055|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33940108|PMID:34008892 11853447 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0080322 polycystic kidney disease ISO RGD:1318266 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:16632497|PMID:16876319|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:21228398|PMID:21274727|PMID:21790888|PMID:22882926|PMID:23041322|PMID:23582048|PMID:23757202|PMID:24033266|PMID:24162162|PMID:25124979|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28862642|PMID:29801666|PMID:29956005|PMID:30343465|PMID:30773290|PMID:31130284|PMID:31395954|PMID:31813136|PMID:31844813|PMID:31980526|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:33112055|PMID:33123899|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33940108|PMID:34008892 11853447 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1318266 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:12925574|PMID:14741187|PMID:14971004|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16199547|PMID:16523049|PMID:16632497|PMID:16876319|PMID:17576681|PMID:18414213|PMID:18503009|PMID:19021639|PMID:19176689|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:20460933|PMID:20575693|PMID:21228398|PMID:21274727|PMID:21493627|PMID:21790888|PMID:21945273|PMID:22034641|PMID:22415584|PMID:22882926|PMID:22995991|PMID:23041322|PMID:23265383|PMID:23389334|PMID:23582048|PMID:23757202|PMID:24009235|PMID:24033266|PMID:24121792|PMID:24162162|PMID:24710345|PMID:24984783|PMID:25114813|PMID:25124979|PMID:25153916|PMID:25193386|PMID:25525159|PMID:25589618|PMID:25640679|PMID:25646624|PMID:25701400|PMID:25741868|PMID:25741880|PMID:25741895|PMID:25741913|PMID:25771912|PMID:25966130|PMID:26139440|PMID:26385851|PMID:26489027|PMID:26489029|PMID:26633542|PMID:26673778|PMID:26695994|PMID:26721323|PMID:27151922|PMID:27225849|PMID:27491411|PMID:27577217|PMID:27595491|PMID:27752906|PMID:27894351|PMID:28170084|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28578020|PMID:28851938|PMID:28862642|PMID:28933340|PMID:29095814|PMID:29520754|PMID:29643536|PMID:29801666|PMID:29956005|PMID:30260789|PMID:30275481|PMID:30343465|PMID:30366773|PMID:30507656|PMID:30566001|PMID:30595564|PMID:30650191|PMID:30655312|PMID:30773290|PMID:30787879|PMID:31130284|PMID:31395954|PMID:31730820|PMID:31738409|PMID:31813136|PMID:31844813|PMID:31938409|PMID:31980526|PMID:32203225|PMID:32256442|PMID:32359821|PMID:32384486|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32576985|PMID:32799815|PMID:32939031|PMID:33059616|PMID:33112055|PMID:33123899|PMID:33226606|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33569422|PMID:33716212|PMID:33845788|PMID:33940108|PMID:34008892|PMID:34426522|PMID:9536098 11853447 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1318266 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:12925574|PMID:14741187|PMID:14971004|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16199547|PMID:16523049|PMID:16632497|PMID:16876319|PMID:17576681|PMID:18414213|PMID:18503009|PMID:19021639|PMID:19176689|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:20460933|PMID:20575693|PMID:21228398|PMID:21274727|PMID:21493627|PMID:21790888|PMID:21945273|PMID:22034641|PMID:22415584|PMID:22882926|PMID:22995991|PMID:23041322|PMID:23265383|PMID:23389334|PMID:23582048|PMID:23757202|PMID:24009235|PMID:24033266|PMID:24121792|PMID:24162162|PMID:24710345|PMID:24984783|PMID:25034658|PMID:25114813|PMID:25124979|PMID:25153916|PMID:25193386|PMID:25525159|PMID:25589618|PMID:25640679|PMID:25646624|PMID:25701400|PMID:25741868|PMID:25741880|PMID:25741895|PMID:25741913|PMID:25771912|PMID:25966130|PMID:26139440|PMID:26385851|PMID:26489027|PMID:26489029|PMID:26633542|PMID:26673778|PMID:26695994|PMID:26721323|PMID:27151922|PMID:27225849|PMID:27491411|PMID:27577217|PMID:27595491|PMID:27752906|PMID:27894351|PMID:28166811|PMID:28170084|PMID:28364132|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28578020|PMID:28851938|PMID:28862642|PMID:28933340|PMID:29095814|PMID:29520754|PMID:29643536|PMID:29801666|PMID:29947050|PMID:29956005|PMID:30017326|PMID:30260789|PMID:30275481|PMID:30343465|PMID:30366773|PMID:30507656|PMID:30566001|PMID:30586318|PMID:30595564|PMID:30650191|PMID:30655312|PMID:30773290|PMID:30787879|PMID:31010483|PMID:31130284|PMID:31395954|PMID:31589614|PMID:31624253|PMID:31730820|PMID:31738409|PMID:31813136|PMID:31844813|PMID:31938409|PMID:31980526|PMID:32203225|PMID:32256442|PMID:32359821|PMID:32384486|PMID:3239877|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32576985|PMID:32799815|PMID:32939031|PMID:33059616|PMID:33059727|PMID:33112055|PMID:33123899|PMID:33226606|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33569422|PMID:33716212|PMID:33845788|PMID:33940108|PMID:34008892|PMID:34032358|PMID:34405919|PMID:34426522|PMID:34536170|PMID:35627109|PMID:35812281|PMID:9536098 11853447 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0110861 autosomal recessive polycystic kidney disease severity ISO RGD:1318266 D RGD:9068941 20200609 RGD DNA:missense mutations:cds: PMID:12874454|REF_RGD_ID:11062506 11853447 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0110861 autosomal recessive polycystic kidney disease susceptibility ISO RGD:1308476 D RGD:9068941 20200609 RGD DNA:splice site mutation:intron:IVS35-2A>T PMID:11919560|REF_RGD_ID:70439 11853447 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0110861 autosomal recessive polycystic kidney disease susceptibility ISO RGD:1318266 D RGD:9068941 20200609 RGD DNA:missense mutations, nonsense mutations: :multiple PMID:11919560|REF_RGD_ID:70439 11853447 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:10283 prostate cancer ISO RGD:1318266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 11853447 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:12215 oligohydramnios ISO RGD:1318266 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Oligohydramnios | ClinVar Annotator: match by term: anhydramnios PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:19914852|PMID:20413436|PMID:21274727|PMID:25124979|PMID:25741868|PMID:26695994|PMID:27225849|PMID:28375157|PMID:28492532|PMID:30773290|PMID:32799815|PMID:33532864|PMID:35005812 11853447 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:219 colon cancer ISO RGD:1318266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:12846734|PMID:14741187|PMID:15805161|PMID:21493627|PMID:25646624|PMID:25701400|PMID:25741868|PMID:28492532|PMID:33532864|PMID:33716212 11853447 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:2975 cystic kidney disease ISO RGD:1318266 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Renal cyst PMID:25741868|PMID:27225849|PMID:28492532 11853447 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:5082 liver cirrhosis ISO RGD:1318267 D RGD:9068941 20200609 RGD DNA:deletion:exon: PMID:17519956|REF_RGD_ID:14700917 11853447 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:557 kidney disease ISO RGD:1318266 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:19914852|PMID:19940839|PMID:20413436|PMID:21274727|PMID:25124979|PMID:25741868|PMID:26695994|PMID:27225849|PMID:28375157|PMID:28492532|PMID:30773290|PMID:32799815|PMID:33532864 11853447 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:630 genetic disease ISO RGD:1318266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11919560|PMID:15698423|PMID:15805161|PMID:19914852|PMID:20413436|PMID:23041322|PMID:25741868|PMID:26695994|PMID:28492532|PMID:29956005|PMID:31395954 11853447 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1318266 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:16876319|PMID:19176689|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:20460933|PMID:21228398|PMID:21274727|PMID:22415584|PMID:24162162|PMID:24710345|PMID:24984783|PMID:25124979|PMID:25193386|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26489027|PMID:26489029|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28375157|PMID:28492532|PMID:28578020|PMID:28862642|PMID:29801666|PMID:29956005|PMID:30275481|PMID:30507656|PMID:30650191|PMID:30773290|PMID:31130284|PMID:31589614|PMID:31738409|PMID:31844813|PMID:31980526|PMID:32359821|PMID:32384486|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:33112055|PMID:33123899|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33845788|PMID:33940108 11853447 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:899 choledochal cyst ISO RGD:1318266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 11853447 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:899 choledochal cyst ISO RGD:1318267 D RGD:9068941 20200609 RGD DNA:deletion:exon: PMID:15830394|REF_RGD_ID:14700991 11853447 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1318266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:16876319|PMID:19176689|PMID:19914852|PMID:19940839|PMID:20413436|PMID:20460933|PMID:21228398|PMID:21274727|PMID:22415584|PMID:24162162|PMID:24984783|PMID:25124979|PMID:25193386|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26489027|PMID:26489029|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28375157|PMID:28492532|PMID:28578020|PMID:28862642|PMID:29801666|PMID:30275481|PMID:30507656|PMID:30650191|PMID:30773290|PMID:31130284|PMID:31589614|PMID:31738409|PMID:31844813|PMID:31980526|PMID:32359821|PMID:32384486|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:33112055|PMID:33123899|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33845788|PMID:33940108 11853447 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9002851 Medullary Sponge Kidney ISO RGD:1318267 D RGD:9068941 20200609 RGD PMID:30600684|REF_RGD_ID:14700919 11853447 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9005318 Isolated Caroli Disease ISO RGD:1318266 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cystic dilatation of the intrahepatic biliary tree PMID:1189128|PMID:11898128|PMID:12874454|PMID:15698423|PMID:15805161|PMID:16133180|PMID:19914852|PMID:25741868|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27894351|PMID:28492532|PMID:31130284|PMID:31844813|PMID:31980526|PMID:32359821|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815 11853447 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9006554 Pancreatic Cyst ISO RGD:1318267 D RGD:9068941 20200609 RGD PMID:18202188|REF_RGD_ID:14700921 11853447 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9006554 Pancreatic Cyst ISO RGD:1318267 D RGD:9068941 20200609 RGD DNA:deletion:exon: PMID:17519956|REF_RGD_ID:14700917 11853447 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9006697 Congenital Hepatic Fibrosis ISO RGD:1318266 D RGD:9068941 20200609 RGD DNA:mutations:cds:c.7994T>C, p.(Leu2665Pro),c.8518C>T, p.(Arg2840Cys)(human) PMID:30507656|REF_RGD_ID:14700992 11853447 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9006697 Congenital Hepatic Fibrosis ISO RGD:1318267 D RGD:9068941 20200609 RGD PMID:30600684|REF_RGD_ID:14700919 11853447 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9007479 Habitual Abortions ISO RGD:1318266 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3 11853447 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9263 homocystinuria ISO RGD:1318266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CBS deficiency PMID:25741868 11853447 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9446 cholangitis ISO RGD:1318267 D RGD:9068941 20200609 RGD PMID:29158418|REF_RGD_ID:14700923 11853517 NFATC4 nuclear factor of activated T cells 4 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1321836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11853517 NFATC4 nuclear factor of activated T cells 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:1321836 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G160A (human) PMID:12939651|REF_RGD_ID:1580248 11853517 NFATC4 nuclear factor of activated T cells 4 gene DOID:630 genetic disease ISO RGD:1321836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11853517 NFATC4 nuclear factor of activated T cells 4 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1321836 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11853517 NFATC4 nuclear factor of activated T cells 4 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1321836 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:9568714|REF_RGD_ID:1579956 11853517 NFATC4 nuclear factor of activated T cells 4 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321836 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11853517 NFATC4 nuclear factor of activated T cells 4 gene DOID:9005968 Neuralgia treatment ISO RGD:1310749 D RGD:9068941 20230427 RGD PMID:23386250|REF_RGD_ID:329337338 11853517 NFATC4 nuclear factor of activated T cells 4 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1321836 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:9568714|REF_RGD_ID:1579956 11853517 NFATC4 nuclear factor of activated T cells 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321836 D RGD:9068941 20211112 CTD CTD Direct Evidence: therapeutic PMID:34192554 11853538 KCNK7 potassium two pore domain channel subfamily K member 7 gene DOID:1059 intellectual disability ISO RGD:1604643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11853538 KCNK7 potassium two pore domain channel subfamily K member 7 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604643 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11853538 KCNK7 potassium two pore domain channel subfamily K member 7 gene DOID:2746 glycogen storage disease V ISO RGD:1604643 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11853538 KCNK7 potassium two pore domain channel subfamily K member 7 gene DOID:3070 high grade glioma ISO RGD:1604643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11853538 KCNK7 potassium two pore domain channel subfamily K member 7 gene DOID:630 genetic disease ISO RGD:1604643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11853538 KCNK7 potassium two pore domain channel subfamily K member 7 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1604643 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11853538 KCNK7 potassium two pore domain channel subfamily K member 7 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1604643 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 11853548 MIB2 MIB E3 ubiquitin protein ligase 2 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1349487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11853548 MIB2 MIB E3 ubiquitin protein ligase 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1349487 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11853548 MIB2 MIB E3 ubiquitin protein ligase 2 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1349487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11853548 MIB2 MIB E3 ubiquitin protein ligase 2 gene DOID:0080600 COVID-19 ISO RGD:1349487 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11853548 MIB2 MIB E3 ubiquitin protein ligase 2 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1349487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11853548 MIB2 MIB E3 ubiquitin protein ligase 2 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1349487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11853548 MIB2 MIB E3 ubiquitin protein ligase 2 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1349487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11853548 MIB2 MIB E3 ubiquitin protein ligase 2 gene DOID:0111934 immunodeficiency 38 ISO RGD:1349487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11853548 MIB2 MIB E3 ubiquitin protein ligase 2 gene DOID:0111935 immunodeficiency 16 ISO RGD:1349487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11853548 MIB2 MIB E3 ubiquitin protein ligase 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1349487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11853548 MIB2 MIB E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:1349487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11853548 MIB2 MIB E3 ubiquitin protein ligase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11853548 MIB2 MIB E3 ubiquitin protein ligase 2 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1349487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11853548 MIB2 MIB E3 ubiquitin protein ligase 2 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1349487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11853571 ATP6V1G3 ATPase H+ transporting V1 subunit G3 gene DOID:1540 parathyroid carcinoma ISO RGD:1312186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11853571 ATP6V1G3 ATPase H+ transporting V1 subunit G3 gene DOID:630 genetic disease ISO RGD:1312186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11853571 ATP6V1G3 ATPase H+ transporting V1 subunit G3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11853578 ZNF189 zinc finger protein 189 gene DOID:1059 intellectual disability ISO RGD:1315167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11853578 ZNF189 zinc finger protein 189 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:1315167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:18541450|PMID:28492532 11853578 ZNF189 zinc finger protein 189 gene DOID:630 genetic disease ISO RGD:1315167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11853578 ZNF189 zinc finger protein 189 gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:1315167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose intolerance PMID:18541450|PMID:28492532 11853604 TCF20 transcription factor 20 gene DOID:0060041 autism spectrum disorder ISO RGD:69146 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11853604 TCF20 transcription factor 20 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1558109 D RGD:9068941 20220825 MouseDO OMIM:606232 11853604 TCF20 transcription factor 20 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:69146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 11853604 TCF20 transcription factor 20 gene DOID:1059 intellectual disability ISO RGD:69146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 11853604 TCF20 transcription factor 20 gene DOID:12849 autistic disorder ISO RGD:69146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:25741868 11853604 TCF20 transcription factor 20 gene DOID:630 genetic disease ISO RGD:69146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30739909|PMID:31238879 11853604 TCF20 transcription factor 20 gene DOID:9001510 Funnel Chest ISO RGD:69146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:25741868 11853604 TCF20 transcription factor 20 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11853604 TCF20 transcription factor 20 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:30739909 11853604 TCF20 transcription factor 20 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69146 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868|PMID:30739909 11853604 TCF20 transcription factor 20 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:69146 D RGD:7240710 20190710 OMIM 11853604 TCF20 transcription factor 20 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:69146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:25228304|PMID:25741868|PMID:27436265|PMID:28492532|PMID:30739909|PMID:30819258|PMID:30909959|PMID:31690835 11853604 TCF20 transcription factor 20 gene DOID:9005603 Muscle Hypotonia ISO RGD:69146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia 11853604 TCF20 transcription factor 20 gene DOID:9008086 Developmental Disabilities ISO RGD:69146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11853604 TCF20 transcription factor 20 gene DOID:9008582 Developmental Disease ISO RGD:69146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11853622 PPP6R3 protein phosphatase 6 regulatory subunit 3 gene DOID:1059 intellectual disability ISO RGD:1316164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11853622 PPP6R3 protein phosphatase 6 regulatory subunit 3 gene DOID:630 genetic disease ISO RGD:1316164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11853622 PPP6R3 protein phosphatase 6 regulatory subunit 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1316164 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11853622 PPP6R3 protein phosphatase 6 regulatory subunit 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1316164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11853696 LGALS2 galectin 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:735390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11853696 LGALS2 galectin 2 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:735390 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11853696 LGALS2 galectin 2 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:735390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11853696 LGALS2 galectin 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11853696 LGALS2 galectin 2 gene DOID:5844 myocardial infarction ISO RGD:735390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:15129282 11853696 LGALS2 galectin 2 gene DOID:5844 myocardial infarction susceptibility ISO RGD:735390 D RGD:7240710 20190502 OMIM 11853696 LGALS2 galectin 2 gene DOID:630 genetic disease ISO RGD:735390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11853696 LGALS2 galectin 2 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 11853696 LGALS2 galectin 2 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:735390 D RGD:9068941 20200609 RGD PMID:17040205|REF_RGD_ID:1581853 11853696 LGALS2 galectin 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11853704 CD8A CD8 subunit alpha gene DOID:0050185 erythema multiforme susceptibility ISO RGD:735285 D RGD:9068941 20210326 RGD associated with adult T-cell leukemia;mRNA:increased expression:blood (human) PMID:32433748|REF_RGD_ID:124715447 11853704 CD8A CD8 subunit alpha gene DOID:0080600 COVID-19 ISO RGD:735285 D RGD:9068941 20210326 RGD mRNA:increased expression:epithelium of nasopharynx (human) PMID:32898168|REF_RGD_ID:124715451 11853704 CD8A CD8 subunit alpha gene DOID:0080600 COVID-19 exacerbates ISO RGD:10317 D RGD:9068941 20210326 RGD protein:increased expression:blood, T cell (mouse) PMID:32991819|REF_RGD_ID:124715452 11853704 CD8A CD8 subunit alpha gene DOID:0080600 COVID-19 severity ISO RGD:735285 D RGD:9068941 20200618 RGD protein:decreased expression:serum, lung, T cell (human) PMID:32427582|REF_RGD_ID:30309200 11853704 CD8A CD8 subunit alpha gene DOID:0081292 traumatic brain injury ISO RGD:10317 D RGD:9068941 20210326 RGD mRNA:increased expression:brain (mouse) PMID:31383034|REF_RGD_ID:124715446 11853704 CD8A CD8 subunit alpha gene DOID:1024 leprosy exacerbates ISO RGD:735285 D RGD:9068941 20210326 RGD mRNA:increased expression:blood (human) PMID:31784594|REF_RGD_ID:124715449 11853704 CD8A CD8 subunit alpha gene DOID:10534 stomach cancer ISO RGD:735285 D RGD:9068941 20210326 RGD associated with Epstein-Barr Virus Infections;mRNA:increased expression:stomach (human) PMID:29915957|REF_RGD_ID:124715442 11853704 CD8A CD8 subunit alpha gene DOID:10534 stomach cancer ameliorates ISO RGD:735285 D RGD:9068941 20210326 RGD protein:decreased expression:stomach, T cell (human) PMID:30106451|REF_RGD_ID:124715443 11853704 CD8A CD8 subunit alpha gene DOID:11168 anogenital venereal wart ISO RGD:735285 D RGD:9068941 20210326 RGD mRNA:decreased expression:zone of skin (human) PMID:25774455|REF_RGD_ID:36174028 11853704 CD8A CD8 subunit alpha gene DOID:11573 listeriosis disease_progression ISO RGD:10317 D RGD:9068941 20210326 RGD protein:increased expression:liver (mouse) PMID:20348006|REF_RGD_ID:124715456 11853704 CD8A CD8 subunit alpha gene DOID:11573 listeriosis exacerbates ISO RGD:10317 D RGD:9068941 20210326 RGD protein:decreased expression:spleen, liver (mouse) PMID:2120126|REF_RGD_ID:124715458 11853704 CD8A CD8 subunit alpha gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735285 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17950725 11853704 CD8A CD8 subunit alpha gene DOID:399 tuberculosis ISO RGD:735285 D RGD:9068941 20210326 RGD associated with human immunodeficiency virus infectious disease;mRNA:increased expression:whole blood (human) PMID:27553407|REF_RGD_ID:124715445 11853704 CD8A CD8 subunit alpha gene DOID:399 tuberculosis susceptibility ISO RGD:735285 D RGD:9068941 20210326 RGD mRNA:decreased expression:blood (human) PMID:26725873|REF_RGD_ID:124715450 11853704 CD8A CD8 subunit alpha gene DOID:526 human immunodeficiency virus infectious disease treatment ISO RGD:735285 D RGD:9068941 20210326 RGD PMID:29384862|REF_RGD_ID:124715453 11853704 CD8A CD8 subunit alpha gene DOID:576 proteinuria ISO RGD:10317 D RGD:9068941 20210326 RGD associated with Protozoan Infections, Animal;protein:increased expression:kidney (mouse) PMID:9713350|REF_RGD_ID:124715441 11853704 CD8A CD8 subunit alpha gene DOID:630 genetic disease ISO RGD:735285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11853704 CD8A CD8 subunit alpha gene DOID:8469 influenza ISO RGD:10317 D RGD:9068941 20210326 RGD protein:altered expression:lung, T cell (mouse) PMID:28355204|REF_RGD_ID:124715455 11853704 CD8A CD8 subunit alpha gene DOID:8566 herpes simplex ISO RGD:10317 D RGD:9068941 20210326 RGD mRNA:increased expression:trigeminal ganglion (mouse) PMID:19151393|REF_RGD_ID:124715454 11853704 CD8A CD8 subunit alpha gene DOID:9000469 Viral Myocarditis ISO RGD:10317 D RGD:9068941 20210326 RGD associated with Coxsackievirus Infections;protein:increased expression:myocardium (mouse) PMID:17113076|REF_RGD_ID:124715457 11853704 CD8A CD8 subunit alpha gene DOID:9000509 Epstein-Barr Virus Infections ISO RGD:735285 D RGD:9068941 20210326 RGD associated with stomach cancer;mRNA:increased expression:stomach (human) PMID:29155997|REF_RGD_ID:124715448 11853704 CD8A CD8 subunit alpha gene DOID:9003281 Spontaneous Abortions ISO RGD:735285 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11853704 CD8A CD8 subunit alpha gene DOID:9006771 Chronic Rhinosinusitis ameliorates ISO RGD:735285 D RGD:9068941 20210326 RGD protein:decreased expression:blood, T cell (human) PMID:24639246|REF_RGD_ID:124715444 11853704 CD8A CD8 subunit alpha gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:735285 D RGD:7240710 20180130 OMIM 11853704 CD8A CD8 subunit alpha gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:735285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:11435463|PMID:16199547|PMID:17576681|PMID:17658607|PMID:21546492|PMID:24033266|PMID:25741868|PMID:26563160|PMID:28492532|PMID:9536098 11853720 MRPS36 mitochondrial ribosomal protein S36 gene DOID:630 genetic disease ISO RGD:1319596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11853720 MRPS36 mitochondrial ribosomal protein S36 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11853726 SIX3 SIX homeobox 3 gene DOID:0060071 pre-malignant neoplasm ISO RGD:733474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11853726 SIX3 SIX homeobox 3 gene DOID:0110872 holoprosencephaly 2 ISO RGD:733474 D RGD:7240710 20180130 OMIM 11853726 SIX3 SIX homeobox 3 gene DOID:0110872 holoprosencephaly 2 ISO RGD:733474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 2 PMID:10369266|PMID:10923031|PMID:11039582|PMID:15221788|PMID:15523651|PMID:17001667|PMID:17584896|PMID:18791198|PMID:18989625|PMID:19346217|PMID:19353631|PMID:20157829|PMID:20531442|PMID:25741868|PMID:26080100|PMID:26467025|PMID:28492532|PMID:32796691|PMID:34008892 11853726 SIX3 SIX homeobox 3 gene DOID:0111380 solitary median maxillary central incisor ISO RGD:733474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome PMID:18791198|PMID:19346217|PMID:20157829|PMID:26080100|PMID:26467025|PMID:28492532 11853726 SIX3 SIX homeobox 3 gene DOID:3883 Lynch syndrome ISO RGD:733474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11853726 SIX3 SIX homeobox 3 gene DOID:4621 holoprosencephaly ISO RGD:733474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10369266 11853726 SIX3 SIX homeobox 3 gene DOID:4621 holoprosencephaly ISO RGD:733474 D RGD:9068941 20200609 RGD PMID:10369266|PMID:15523651|REF_RGD_ID:1599335|REF_RGD_ID:1599336 11853726 SIX3 SIX homeobox 3 gene DOID:630 genetic disease ISO RGD:733474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11853726 SIX3 SIX homeobox 3 gene DOID:9006637 Schizencephaly ISO RGD:733474 D RGD:7240710 20190327 OMIM 11853726 SIX3 SIX homeobox 3 gene DOID:9006637 Schizencephaly ISO RGD:733474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizencephaly PMID:18791198|PMID:19346217|PMID:20157829|PMID:25741868|PMID:26080100|PMID:26467025|PMID:28492532 11853726 SIX3 SIX homeobox 3 gene DOID:9007188 Liver Neoplasms ISO RGD:733474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:732909 D RGD:9068941 20220624 RGD mRNA:increased expression:blood plasma (human) PMID:31874165|REF_RGD_ID:152995482 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:0050424 familial adenomatous polyposis ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17942926 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:0050700 cardiomyopathy ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24448315 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12556562 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:0060319 cardiac arrest ISO RGD:735336 D RGD:9068941 20200609 RGD PMID:20363892|REF_RGD_ID:5509101 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:0081002 Cowden syndrome 6 ISO RGD:732909 D RGD:7240710 20180704 OMIM 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:0081002 Cowden syndrome 6 ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cowden syndrome 6 PMID:16199547|PMID:17576681|PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23246288|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23884910|PMID:23934607|PMID:24190505|PMID:24657128|PMID:24728327|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28459198|PMID:28492532|PMID:28655553|PMID:31792197|PMID:9536098 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25658812 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:732909 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:2081 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:cholangiocyte PMID:24498161|REF_RGD_ID:10040950 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:732909 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:10283 prostate cancer severity ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:SNPs:5' utr, intron: (rs1130214, rs2494738) (human) PMID:21430300|REF_RGD_ID:5509093 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:10652 Alzheimer's disease ISO RGD:735336 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:cerebral cortex PMID:18023354|REF_RGD_ID:5509085 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:10763 hypertension ISO RGD:2081 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:kidney PMID:23323219|REF_RGD_ID:10041025 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:11054 urinary bladder cancer ISO RGD:732909 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36115647 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732909 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:18190825|REF_RGD_ID:2291891 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:1245 vulva cancer severity ISO RGD:732909 D RGD:9068941 20200924 RGD associated with Papillomavirus Infections PMID:22685591|REF_RGD_ID:38676500 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:13482 Proteus syndrome ISO RGD:732909 D RGD:7240710 20180130 OMIM 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:13482 Proteus syndrome ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:14330 Parkinson's disease ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:introns:multiple (human) PMID:18395980|REF_RGD_ID:5509076 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:14330 Parkinson's disease ISO RGD:732909 D RGD:9068941 20200609 RGD protein:altered expression:brain PMID:19800394|REF_RGD_ID:5509074 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:14330 Parkinson's disease no_association ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:SNPs:introns:multiple (human) PMID:21741444|REF_RGD_ID:5509064 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:1520 colon carcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colon carcinoma PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:1612 breast cancer ISO RGD:732909 D RGD:7240710 20180711 OMIM 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:1612 breast cancer ISO RGD:732909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:1612 breast cancer ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:732909 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:1793 pancreatic cancer severity ISO RGD:732909 D RGD:9068941 20200609 RGD protein:increased phosphorylation:pancreas (human) PMID:20697673|REF_RGD_ID:13450953 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:1793 pancreatic cancer treatment ISO RGD:732909 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:11595724|REF_RGD_ID:13452388 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:1826 epilepsy ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20064661 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:1875 impotence treatment ISO RGD:2081 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21235725|REF_RGD_ID:10053666 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:1909 melanoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24265152|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:1936 atherosclerosis severity ISO RGD:735336 D RGD:9068941 20200609 RGD PMID:18054314|REF_RGD_ID:5509083 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:219 colon cancer ISO RGD:732909 D RGD:9068941 20220623 RGD human cells in mouse model PMID:31932471|REF_RGD_ID:152995462 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:219 colon cancer severity ISO RGD:732909 D RGD:9068941 20220623 RGD mRNA:increased expression:colon (human) PMID:31932471|REF_RGD_ID:152995462 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:219 colon cancer treatment ISO RGD:2081 D RGD:9068941 20210611 RGD PMID:33360052|REF_RGD_ID:127229954 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:2316 brain ischemia ISO RGD:2081 D RGD:9068941 20200609 RGD protein:decreased serine phosphorylation:cerebral cortex PMID:21596097|REF_RGD_ID:5509066 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:2394 ovarian cancer ISO RGD:732909 D RGD:7240710 20190213 OMIM 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:2394 ovarian cancer susceptibility ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:point mutation:cds:p.E17K (human) PMID:17611497|REF_RGD_ID:1643334 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:732909 D RGD:9068941 20200609 RGD PMID:20638364|REF_RGD_ID:13504677 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:2671 transitional cell carcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:732909 D RGD:9068941 20200924 RGD DNA:SNP,haplotype:intron: IVS3+18 C/C (human) PMID:20141546|REF_RGD_ID:38676498 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:299 adenocarcinoma ISO RGD:732909 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:33129824 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:missense mutation:p.E17K (human) PMID:18392055|REF_RGD_ID:13209138 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:3068 glioblastoma ISO RGD:735336 D RGD:9068941 20200609 RGD PMID:10802656|REF_RGD_ID:734543 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:3069 malignant astrocytoma disease_progression ISO RGD:732909 D RGD:9068941 20200609 RGD PMID:19240976|REF_RGD_ID:5509079 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:3312 bipolar disorder ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :multiple (human) PMID:20214684|REF_RGD_ID:5509071 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:735336 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:18273716|REF_RGD_ID:5509081 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:3347 osteosarcoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteosarcoma, somatic PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:3376 bone osteosarcoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bone osteosarcoma PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:3393 coronary artery disease ISO RGD:735336 D RGD:9068941 20200609 RGD PMID:18054314|REF_RGD_ID:5509083 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:3458 breast adenocarcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast adenocarcinoma, somatic PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:3565 meningioma ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23334667 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:732909 D RGD:9068941 20220630 RGD protein:increased expression:esophagus (human) PMID:32642408|REF_RGD_ID:152995512 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-small cell lung cancer PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:732909 D RGD:9068941 20220224 RGD human cells in mouse model PMID:32276600|REF_RGD_ID:151357000 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732909 D RGD:9068941 20210910 RGD human cells in mouse model PMID:23632475|REF_RGD_ID:150404268 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:732909 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:kidney PMID:17681738|REF_RGD_ID:1643331 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:5041 esophageal cancer ISO RGD:732909 D RGD:9068941 20220630 RGD protein:increased expression:esophagus (human) PMID:27188433|REF_RGD_ID:152995510 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:5199 ureteral obstruction ISO RGD:2081 D RGD:9068941 20200609 RGD PMID:22085202|REF_RGD_ID:10041001 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:5409 lung small cell carcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Small cell lung cancer PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:5411 lung oat cell carcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung oat cell carcinoma PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:5419 schizophrenia ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14745448|PMID:15982448|PMID:17915974|PMID:21187413 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:5419 schizophrenia ISO RGD:732909 D RGD:9068941 20200609 RGD PMID:14745448|REF_RGD_ID:1358369 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:5419 schizophrenia ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:intron: (rs2494734) (human) PMID:20921115|REF_RGD_ID:5509070 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:5419 schizophrenia ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :multiple PMID:20214684|REF_RGD_ID:5509071 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:5419 schizophrenia ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:multiple PMID:17825267|REF_RGD_ID:5509088 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:5419 schizophrenia ISO RGD:732909 D RGD:9068941 20200609 RGD protein:decreased serine phosphorylation:hippocampus, dentate gyrus, neuron PMID:21049487|REF_RGD_ID:5509068 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:5419 schizophrenia ISO RGD:735336 D RGD:9068941 20220825 MouseDO OMIM:181500 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:5844 myocardial infarction ISO RGD:2081 D RGD:9068941 20200609 RGD protein:decreased serine phosphorylation:heart PMID:20352476|REF_RGD_ID:10041035 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:5844 myocardial infarction ISO RGD:732909 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:platelet PMID:20467748|REF_RGD_ID:5509094 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:607 paraplegia ISO RGD:2081 D RGD:9068941 20200609 RGD mRNA:decreased expression:soleus PMID:18236467|REF_RGD_ID:5509082 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:630 genetic disease ISO RGD:732909 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:670 amphetamine abuse ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15982448 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2081 D RGD:9068941 20220520 RGD PMID:25999787|PMID:31801250|REF_RGD_ID:151893509|REF_RGD_ID:152177911 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:7575 pancreatic intraductal papillary-mucinous neoplasm ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E17K (human) PMID:24132918|REF_RGD_ID:13462042 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:767 muscular atrophy ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18467435 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:732909 D RGD:9068941 20200609 RGD protein:increased phosphorylation:blood PMID:17900686|REF_RGD_ID:13674160 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:8646 substance-induced psychosis ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21041608 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:8719 in situ carcinoma ISO RGD:732909 D RGD:9068941 20200609 RGD ductal carcinoma in situ;protein:increased phosphorylation:breast PMID:16341149|REF_RGD_ID:1643333 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:8805 intermediate coronary syndrome ISO RGD:732909 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:platelet PMID:20467748|REF_RGD_ID:5509094 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:8923 skin melanoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:8947 diabetic retinopathy ISO RGD:2081 D RGD:9068941 20210219 RGD mRNA, protein:increased expression:retina PMID:31759996|REF_RGD_ID:41410819 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2081 D RGD:9068941 20200609 RGD PMID:20678995|REF_RGD_ID:10040962 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9000099 Experimental Colitis treatment ISO RGD:2081 D RGD:9068941 20220623 RGD PMID:29572553|REF_RGD_ID:152995414 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9000641 Pain ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17084039 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9000784 Fibrosis ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24448315 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:736689 D RGD:9068941 20200609 RGD PMID:19124556|REF_RGD_ID:5509080 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9000998 Brain Injuries ISO RGD:2081 D RGD:9068941 20200609 RGD protein:increased phosphorylation:brain, neuron PMID:16234845|REF_RGD_ID:5509090 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9000998 Brain Injuries ISO RGD:732909 D RGD:9068941 20200609 RGD protein:increased phosphorylation:brain, neuron PMID:16234845|REF_RGD_ID:5509090 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9001049 Staphylococcal Pneumonia treatment ISO RGD:735336 D RGD:9068941 20200924 RGD PMID:23613163|REF_RGD_ID:38676477 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9002221 Hyperplasia ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20530298 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:732909 D RGD:9068941 20200609 RGD clear cell sarcoma of kidney;protein:increased serine phosphorylation:kidney PMID:17646270|REF_RGD_ID:1643332 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Prostate neoplasm PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2081 D RGD:9068941 20200609 RGD PMID:22391142|REF_RGD_ID:10041007 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9002514 Neointima ISO RGD:735336 D RGD:9068941 20230427 RGD PMID:25751394|REF_RGD_ID:329328927 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9003936 Cardiomegaly ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24448315 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9003936 Cardiomegaly ISO RGD:735336 D RGD:9068941 20200609 RGD PMID:12237475|REF_RGD_ID:734544 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:735336 D RGD:9068941 20200609 RGD PMID:21351045|REF_RGD_ID:5509067 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9004397 calcification of aortic valve ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23308213 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9004464 Skin Neoplasms ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21351258 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9004610 Acute Lung Injury severity ISO RGD:735336 D RGD:9068941 20200924 RGD PMID:23904165|REF_RGD_ID:38676478 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12511591|PMID:21911043|PMID:22619562 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735336 D RGD:9068941 20200609 RGD PMID:17210696|REF_RGD_ID:2315600 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9005369 Hepatomegaly ISO RGD:732909 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9005372 Inflammation ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24448315|PMID:26297436 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9005372 Inflammation ISO RGD:735336 D RGD:9068941 20200609 RGD PMID:19622728|REF_RGD_ID:5509095 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9005372 Inflammation severity ISO RGD:735336 D RGD:9068941 20200924 RGD associated with Staphylococcal Infections PMID:23904165|REF_RGD_ID:38676478 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2081 D RGD:9068941 20200609 RGD protein:decreased serine phosphorylation:cornea PMID:21330660|REF_RGD_ID:5131482 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2081 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:cortex of kidney PMID:18599524|REF_RGD_ID:8657153 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9005930 Endotoxemia ISO RGD:2081 D RGD:9068941 20200924 RGD PMID:22824368|REF_RGD_ID:38676479 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9006086 Intervertebral Disc Displacement disease_progression ISO RGD:732909 D RGD:9068941 20200609 RGD PMID:21590431|REF_RGD_ID:5509092 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:2081 D RGD:9068941 20200609 RGD PMID:21357504|REF_RGD_ID:10041003 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9006205 Animal Disease Models ISO RGD:732909 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:25658812|PMID:32045588 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9006361 Macrocephaly Mesodermal Hamartoma Spectrum ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Elattoproteus syndrome PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9006599 Hypertriglyceridemia ISO RGD:732909 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:735336 D RGD:9068941 20230302 RGD PMID:36044268|REF_RGD_ID:156430337 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9007096 Stroke disease_progression ISO RGD:735336 D RGD:9068941 20200609 RGD PMID:19440551|REF_RGD_ID:5509077 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9007166 Meningeal Neoplasms ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meningeal Neoplasms PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9007702 Carcinogenesis ISO RGD:732909 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2081 D RGD:9068941 20200609 RGD protein:increased phosphorylation:heart left ventricle PMID:20217242|REF_RGD_ID:5509104 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:point mutation:cds:p.E17K (human) PMID:17611497|REF_RGD_ID:1643334 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:732909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9256 colorectal cancer ISO RGD:732909 D RGD:7240710 20200226 OMIM 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9256 colorectal cancer ameliorates ISO RGD:732909 D RGD:9068941 20220421 RGD human cells in mouse model PMID:30789971|REF_RGD_ID:151893289 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:732909 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:colon PMID:21425139|REF_RGD_ID:13209139 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:point mutation:cds:p.E17K (human) PMID:17611497|REF_RGD_ID:1643334 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2081 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:vascular associated smooth muscle cell PMID:19052261|REF_RGD_ID:2313556 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31626838 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735336 D RGD:9068941 20200609 RGD PMID:19289493|REF_RGD_ID:2311130 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:2081 D RGD:9068941 20200924 RGD PMID:24735788|REF_RGD_ID:39128151 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9452 fatty liver disease ISO RGD:732909 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9505 cannabis abuse ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21041608 11853732 AKT1 AKT serine/threonine kinase 1 gene DOID:9970 obesity ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23954404 11853750 RTRAF RNA transcription, translation and transport factor gene DOID:630 genetic disease ISO RGD:1312305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11853764 ZNF516-DT ZNF516 divergent transcript gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:7207006 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:31690835 11853764 ZNF516-DT ZNF516 divergent transcript gene DOID:6420 pulmonary valve stenosis ISO RGD:7207006 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 11853770 RP1L1 RP1 like 1 gene DOID:0050578 occult macular dystrophy ISO RGD:1319776 D RGD:7240710 20180130 OMIM 11853770 RP1L1 RP1 like 1 gene DOID:0050578 occult macular dystrophy ISO RGD:1319776 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: OMD | ClinVar Annotator: match by term: Occult macular dystrophy PMID:12724644|PMID:20826268|PMID:22277662|PMID:22504327|PMID:23281133|PMID:23619761|PMID:23745001|PMID:24033266|PMID:24838559|PMID:25741868|PMID:25908487|PMID:26355662|PMID:26782618|PMID:27029556|PMID:27623337|PMID:28492532|PMID:30025130|PMID:32360662|PMID:33302505 11853770 RP1L1 RP1 like 1 gene DOID:0112145 retinitis pigmentosa 88 ISO RGD:1319776 D RGD:7240710 20200408 OMIM 11853770 RP1L1 RP1 like 1 gene DOID:0112145 retinitis pigmentosa 88 ISO RGD:1319776 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 88 PMID:20826268|PMID:22504327|PMID:23281133|PMID:23619761|PMID:23745001|PMID:25741868|PMID:25908487|PMID:26355662|PMID:26782618|PMID:27029556|PMID:27623337|PMID:28492532|PMID:30025130|PMID:31087526|PMID:31236346|PMID:31833436|PMID:32360662|PMID:33302505|PMID:33546218 11853770 RP1L1 RP1 like 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1319776 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:22277662|PMID:25324289|PMID:26355662|PMID:28492532 11853770 RP1L1 RP1 like 1 gene DOID:4448 macular degeneration ISO RGD:1319776 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:25741868 11853770 RP1L1 RP1 like 1 gene DOID:630 genetic disease ISO RGD:1319776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11853770 RP1L1 RP1 like 1 gene DOID:8501 fundus dystrophy ISO RGD:1319776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20826268|PMID:22504327|PMID:23281133|PMID:23619761|PMID:23745001|PMID:25741868|PMID:25908487|PMID:26782618|PMID:27623337|PMID:28492532|PMID:30025130 11853770 RP1L1 RP1 like 1 gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:1319776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy 11853770 RP1L1 RP1 like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11853770 RP1L1 RP1 like 1 gene DOID:9008060 Ulnar/Fibular Ray Defect and Brachydactyly ISO RGD:1319776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ulnar/fibular ray defect and brachydactyly PMID:28492532 11853771 SH3D19 SH3 domain containing 19 gene DOID:4990 essential tremor ISO RGD:1605862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 11853771 SH3D19 SH3 domain containing 19 gene DOID:630 genetic disease ISO RGD:1605862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11853821 CCDC117 coiled-coil domain containing 117 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1602294 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 11853821 CCDC117 coiled-coil domain containing 117 gene DOID:630 genetic disease ISO RGD:1602294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11853821 CCDC117 coiled-coil domain containing 117 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1602294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 11853836 NOB1 NIN1 (RPN12) binding protein 1 homolog gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1603053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11853836 NOB1 NIN1 (RPN12) binding protein 1 homolog gene DOID:630 genetic disease ISO RGD:1603053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11853836 NOB1 NIN1 (RPN12) binding protein 1 homolog gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:735222 D RGD:9068941 20200609 RGD mRNA:increased expression:cochlea PMID:21219967|REF_RGD_ID:10766449 11853849 LOC100975643 olfactory receptor 2M3 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1343135 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11853849 LOC100975643 olfactory receptor 2M3 gene DOID:1540 parathyroid carcinoma ISO RGD:1343135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11853849 LOC100975643 olfactory receptor 2M3 gene DOID:630 genetic disease ISO RGD:1343135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11853849 LOC100975643 olfactory receptor 2M3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11853849 LOC100975643 olfactory receptor 2M3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11853869 ZNF614 zinc finger protein 614 gene DOID:630 genetic disease ISO RGD:1342737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11853879 RABGGTA Rab geranylgeranyltransferase subunit alpha gene DOID:0060439 lysinuric protein intolerance ISO RGD:1345525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11853879 RABGGTA Rab geranylgeranyltransferase subunit alpha gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:735604 D RGD:9068941 20220825 MouseDO 11853879 RABGGTA Rab geranylgeranyltransferase subunit alpha gene DOID:630 genetic disease ISO RGD:1345525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11853879 RABGGTA Rab geranylgeranyltransferase subunit alpha gene DOID:9000265 Specific Granule Deficiency ISO RGD:1345525 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11853879 RABGGTA Rab geranylgeranyltransferase subunit alpha gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1345525 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11853911 MEOX1 mesenchyme homeobox 1 gene DOID:0080590 Klippel-Feil syndrome 2 ISO RGD:1318950 D RGD:7240710 20180130 OMIM 11853911 MEOX1 mesenchyme homeobox 1 gene DOID:0080590 Klippel-Feil syndrome 2 ISO RGD:1318950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 2, autosomal recessive PMID:23290072|PMID:24073994 11853911 MEOX1 mesenchyme homeobox 1 gene DOID:10426 Klippel-Feil syndrome ISO RGD:1318950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11853911 MEOX1 mesenchyme homeobox 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1318950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 11853911 MEOX1 mesenchyme homeobox 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1318950 D RGD:9068941 20220811 CTD CTD Direct Evidence: therapeutic PMID:34837450 11853911 MEOX1 mesenchyme homeobox 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1318950 D RGD:9068941 20220811 CTD CTD Direct Evidence: therapeutic PMID:34837450 11853911 MEOX1 mesenchyme homeobox 1 gene DOID:630 genetic disease ISO RGD:1318950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11853922 PC pyruvate carboxylase gene DOID:1059 intellectual disability ISO RGD:733418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11853922 PC pyruvate carboxylase gene DOID:3312 bipolar disorder ISO RGD:733418 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 11853922 PC pyruvate carboxylase gene DOID:3651 pyruvate carboxylase deficiency disease ISO RGD:733418 D RGD:7240710 20180130 OMIM 11853922 PC pyruvate carboxylase gene DOID:3651 pyruvate carboxylase deficiency disease ISO RGD:733418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pyruvate carboxylase deficiency PMID:12112657|PMID:16199547|PMID:17576681|PMID:18676167|PMID:19306334|PMID:23430542|PMID:23973720|PMID:25058219|PMID:25741868|PMID:27290639|PMID:28492532|PMID:28831725|PMID:30870574|PMID:32581362|PMID:32901917|PMID:9536098|PMID:9585002|PMID:9585612 11853922 PC pyruvate carboxylase gene DOID:630 genetic disease ISO RGD:733418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18676167|PMID:25741868|PMID:28492532|PMID:32581362|PMID:9536098 11853922 PC pyruvate carboxylase gene DOID:8584 Burkitt lymphoma ISO RGD:733418 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 11853922 PC pyruvate carboxylase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733418 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 11853922 PC pyruvate carboxylase gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:733418 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11853922 PC pyruvate carboxylase gene DOID:9004872 Congenital Infantile Lactic Acidosis ISO RGD:733418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital lactic acidosis PMID:28492532|PMID:32581362 11853922 PC pyruvate carboxylase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 11853922 PC pyruvate carboxylase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733418 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11853922 PC pyruvate carboxylase gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:733418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11853922 PC pyruvate carboxylase gene DOID:9008086 Developmental Disabilities ISO RGD:733418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741903 11853922 PC pyruvate carboxylase gene DOID:9352 type 2 diabetes mellitus ISO RGD:733419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 11853968 MANBA mannosidase beta gene DOID:1059 intellectual disability ISO RGD:1314025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:18980795|PMID:19728872|PMID:25741868|PMID:28492532|PMID:30552791|PMID:9536098 11853968 MANBA mannosidase beta gene DOID:12177 common variable immunodeficiency ISO RGD:1314025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:25741868 11853968 MANBA mannosidase beta gene DOID:3633 beta-mannosidosis ISO RGD:1314025 D RGD:7240710 20180822 OMIM 11853968 MANBA mannosidase beta gene DOID:3633 beta-mannosidosis ISO RGD:1314025 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:12890191|PMID:1499588|PMID:16199547|PMID:1623631|PMID:16401745|PMID:16904924|PMID:17420068|PMID:17576681|PMID:18565776|PMID:18980795|PMID:19728872|PMID:19763152|PMID:20307669|PMID:2079835|PMID:22369051|PMID:22406018|PMID:24033266|PMID:25640679|PMID:25741867|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30311386|PMID:30455226|PMID:30552791|PMID:30872814|PMID:30951195|PMID:31115173|PMID:34906502|PMID:3762648|PMID:9384606|PMID:9536098 11853968 MANBA mannosidase beta gene DOID:630 genetic disease ISO RGD:1314025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11853968 MANBA mannosidase beta gene DOID:9004538 Hearing Loss ISO RGD:1314025 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:18565776|PMID:2079835|PMID:28492532|PMID:30311386|PMID:30872814|PMID:9384606 11853998 ENO3 enolase 3 gene DOID:0050941 spastic ataxia 2 ISO RGD:732414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 11853998 ENO3 enolase 3 gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:732414 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 11853998 ENO3 enolase 3 gene DOID:1712 aortic valve stenosis ISO RGD:2555 D RGD:9068941 20200609 RGD mRNA:decreased expression:cardiac muscle cell PMID:8594891|REF_RGD_ID:2301765 11853998 ENO3 enolase 3 gene DOID:409 liver disease ISO RGD:732414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11853998 ENO3 enolase 3 gene DOID:630 genetic disease ISO RGD:732414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11853998 ENO3 enolase 3 gene DOID:9005328 Glycogen Storage Disease XIII ISO RGD:732414 D RGD:7240710 20180130 OMIM 11853998 ENO3 enolase 3 gene DOID:9005328 Glycogen Storage Disease XIII ISO RGD:732414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Enolase 3 deficiency | ClinVar Annotator: match by term: Enolase-beta deficiency PMID:11506403|PMID:16199547|PMID:17576681|PMID:18070103|PMID:25267339|PMID:25741868|PMID:28492532|PMID:31741825|PMID:33004838|PMID:9536098 11854072 APOBEC3G apolipoprotein B mRNA editing enzyme catalytic subunit 3G gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1349849 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11854072 APOBEC3G apolipoprotein B mRNA editing enzyme catalytic subunit 3G gene DOID:630 genetic disease ISO RGD:1349849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854098 CCDC170 coiled-coil domain containing 170 gene DOID:630 genetic disease ISO RGD:1322133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854098 CCDC170 coiled-coil domain containing 170 gene DOID:9002239 Estrogen Resistance ISO RGD:1322133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Estrogen resistance syndrome PMID:33116287 11854121 BMP8A bone morphogenetic protein 8a gene DOID:0050830 peripheral artery disease ISO RGD:1350211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27082954 11854121 BMP8A bone morphogenetic protein 8a gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1350211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11854121 BMP8A bone morphogenetic protein 8a gene DOID:630 genetic disease ISO RGD:1350211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854121 BMP8A bone morphogenetic protein 8a gene DOID:9000955 Acute Otitis Media ISO RGD:1620926 D RGD:9068941 20210611 RGD mRNA:decreased expression:middle ear (mouse) PMID:21889218|REF_RGD_ID:127284853 11854131 MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein gene DOID:0111855 primary ciliary dyskinesia 42 ISO RGD:6771255 D RGD:7240710 20200101 OMIM 11854131 MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein gene DOID:0111855 primary ciliary dyskinesia 42 ISO RGD:6771255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 42 PMID:1523039|PMID:24033266|PMID:25048963|PMID:25741868|PMID:28492532|PMID:30237576|PMID:8813877 11854131 MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein gene DOID:630 genetic disease ISO RGD:6771255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11854131 MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:6771255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11854131 MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:6771255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:24033266|PMID:25048963|PMID:25741868|PMID:28492532|PMID:8813877 11854150 ZNF337 zinc finger protein 337 gene DOID:630 genetic disease ISO RGD:1354357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854178 GBA1 glucosylceramidase beta 1 gene DOID:0050474 Netherton syndrome severity ISO RGD:1607089 D RGD:9068941 20230427 RGD protein:decreased expression:epidermis stratum corneum PMID:16601670|REF_RGD_ID:5508433 11854178 GBA1 glucosylceramidase beta 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1607089 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11854178 GBA1 glucosylceramidase beta 1 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1607089 D RGD:7240710 20230505 OMIM 11854178 GBA1 glucosylceramidase beta 1 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1607089 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Hereditary late onset Parkinson disease | ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:10079102|PMID:10636167|PMID:10649495|PMID:10685993|PMID:10714667|PMID:10744424|PMID:10796875|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11783951|PMID:11903352|PMID:11933202|PMID:11992489|PMID:12204005|PMID:12482401|PMID:12587096|PMID:12595585|PMID:12694238|PMID:12734541|PMID:12791040|PMID:12838552|PMID:12972024|PMID:1348297|PMID:1415223|PMID:14578207|PMID:14757438|PMID:1487244|PMID:15146461|PMID:1558964|PMID:15605411|PMID:15826241|PMID:1589760|PMID:15967693|PMID:16061944|PMID:16199547|PMID:16293621|PMID:16967369|PMID:1704891|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17620502|PMID:17689991|PMID:17875915|PMID:18022370|PMID:18160183|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1864608|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20301446|PMID:20629126|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21384230|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21745757|PMID:21831682|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22173904|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22227325|PMID:22247978|PMID:22375149|PMID:22387070|PMID:22388998|PMID:22429443|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22658918|PMID:2269438|PMID:22713811|PMID:22961873|PMID:22964618|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23225227|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23430873|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23699752|PMID:23719189|PMID:2378352|PMID:23811968|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24434810|PMID:24482953|PMID:24522292|PMID:2464926|PMID:24685312|PMID:24756352|PMID:2502917|PMID:2508065|PMID:25084554|PMID:25127542|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25525159|PMID:25535748|PMID:25558695|PMID:25653295|PMID:2569551|PMID:25741868|PMID:25933391|PMID:25946768|PMID:26000814|PMID:26096741|PMID:26117366|PMID:26296077|PMID:26467025|PMID:26689913|PMID:26868973|PMID:26905200|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27123476|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27682613|PMID:27717005|PMID:27735925|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29091352|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29842932|PMID:29934114|PMID:29980418|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30364808|PMID:30456712|PMID:30487145|PMID:30528841|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30764785|PMID:30941926|PMID:31010158|PMID:31026225|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31561936|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32165122|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33334373|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34134921|PMID:34275192|PMID:34649574|PMID:7475546|PMID:7627184|PMID:7655857|PMID:7789963|PMID:7916532|PMID:7981693|PMID:8118463|PMID:8160756|PMID:8213821|PMID:8280613|PMID:8294487|PMID:84325327|PMID:8432537|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8733893|PMID:8774051|PMID:8790604|PMID:8889578|PMID:8929950|PMID:9040001|PMID:9153297|PMID:9240741|PMID:9279145|PMID:9375849|PMID:9516376|PMID:9554746|PMID:9556036 11854178 GBA1 glucosylceramidase beta 1 gene DOID:0080855 Parkinsonism ISO RGD:1607089 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Parkinsonism PMID:10079102|PMID:10649495|PMID:10714667|PMID:10796875|PMID:11336129|PMID:11903352|PMID:12595585|PMID:12791040|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15967693|PMID:16293621|PMID:16967369|PMID:17427031|PMID:17620502|PMID:17875915|PMID:18022370|PMID:18160183|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18541817|PMID:1864608|PMID:18987351|PMID:1899336|PMID:19286695|PMID:1972019|PMID:20004703|PMID:20301446|PMID:20816920|PMID:20947659|PMID:21106416|PMID:21228398|PMID:21472771|PMID:21700212|PMID:21700325|PMID:21742527|PMID:21745757|PMID:21831682|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22227325|PMID:22451204|PMID:22623374|PMID:22713811|PMID:22820396|PMID:22975760|PMID:23035075|PMID:2309702|PMID:23225227|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24522292|PMID:2464926|PMID:25249066|PMID:25333069|PMID:25535748|PMID:2569551|PMID:25741868|PMID:26000814|PMID:26096741|PMID:26117366|PMID:26296077|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27312774|PMID:27717005|PMID:27865684|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:2880291|PMID:28894968|PMID:28947706|PMID:28969384|PMID:29029963|PMID:29471591|PMID:29487000|PMID:29602947|PMID:29625627|PMID:29934114|PMID:29980418|PMID:30146349|PMID:30285649|PMID:30302829|PMID:30456712|PMID:30548430|PMID:30606667|PMID:30662625|PMID:30941926|PMID:31010158|PMID:31130284|PMID:31216804|PMID:31561936|PMID:32014045|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33402667|PMID:33473340|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7981693|PMID:8160756|PMID:8294487|PMID:8929950|PMID:9375849 11854178 GBA1 glucosylceramidase beta 1 gene DOID:0080855 Parkinsonism severity ISO RGD:1607089 D RGD:9068941 20230427 RGD DNA:missense mutations:cds:multiple (human) PMID:20838799|REF_RGD_ID:5508426 11854178 GBA1 glucosylceramidase beta 1 gene DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ISO RGD:1607089 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome PMID:25741868 11854178 GBA1 glucosylceramidase beta 1 gene DOID:0110957 Gaucher's disease type I ISO RGD:1607089 D RGD:7240710 20230505 OMIM 11854178 GBA1 glucosylceramidase beta 1 gene DOID:0110957 Gaucher's disease type I ISO RGD:1607089 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Gaucher disease type I PMID:10079102|PMID:10340647|PMID:10352942|PMID:10369158|PMID:10466427|PMID:10636167|PMID:10649495|PMID:10679038|PMID:10685993|PMID:10714667|PMID:10744424|PMID:10757640|PMID:10777718|PMID:10796875|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11406344|PMID:11783951|PMID:11933202|PMID:11992489|PMID:12204005|PMID:12476451|PMID:12482401|PMID:12587096|PMID:12595585|PMID:12791040|PMID:12838552|PMID:12972024|PMID:1301953|PMID:1348297|PMID:1415223|PMID:14578207|PMID:14728994|PMID:14757438|PMID:1487244|PMID:14994233|PMID:15146461|PMID:15214004|PMID:15276648|PMID:15329082|PMID:15352589|PMID:1558964|PMID:15605411|PMID:15690354|PMID:15826241|PMID:1589760|PMID:15943874|PMID:15954102|PMID:16061944|PMID:16086325|PMID:16185900|PMID:16199547|PMID:16293621|PMID:16329099|PMID:16546416|PMID:16967369|PMID:16981045|PMID:1704891|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17560820|PMID:17574891|PMID:17576681|PMID:17620502|PMID:17689991|PMID:17875915|PMID:18022370|PMID:18030725|PMID:18332251|PMID:18338393|PMID:18347322|PMID:1840477|PMID:18429048|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1864608|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19026343|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19394250|PMID:19459886|PMID:19513999|PMID:1961718|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20004867|PMID:20005137|PMID:20301446|PMID:20432762|PMID:20629126|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20846888|PMID:20880730|PMID:20946052|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21056933|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21384230|PMID:21431620|PMID:21445609|PMID:21455010|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21745757|PMID:21779299|PMID:21823541|PMID:21856586|PMID:21982627|PMID:22006919|PMID:22112991|PMID:22160715|PMID:22173904|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22234757|PMID:22247978|PMID:22375149|PMID:22387070|PMID:22388998|PMID:22429443|PMID:22451204|PMID:22493294|PMID:22526844|PMID:22592100|PMID:22623374|PMID:22658918|PMID:2269438|PMID:22713811|PMID:22812582|PMID:22961873|PMID:22964618|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23056756|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23332636|PMID:23386328|PMID:23418865|PMID:23426826|PMID:23430543|PMID:23430873|PMID:23448517|PMID:2349952|PMID:23508695|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23699752|PMID:23719189|PMID:23757202|PMID:2378352|PMID:23811968|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24278166|PMID:24313877|PMID:24434810|PMID:24482953|PMID:24513544|PMID:24522292|PMID:2464926|PMID:24685312|PMID:24756352|PMID:24801745|PMID:24904648|PMID:2502917|PMID:2508065|PMID:25084554|PMID:25127542|PMID:25168325|PMID:25249066|PMID:25287185|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25482214|PMID:25525159|PMID:25535748|PMID:25558695|PMID:25653295|PMID:2569551|PMID:25732996|PMID:25741868|PMID:25829804|PMID:25933391|PMID:25946768|PMID:26043810|PMID:26051481|PMID:26096741|PMID:26117366|PMID:26220978|PMID:26316492|PMID:26467025|PMID:26689913|PMID:26709268|PMID:26743617|PMID:26756743|PMID:26792850|PMID:26847548|PMID:26868973|PMID:26905200|PMID:27008851|PMID:27014572|PMID:27027900|PMID:27094865|PMID:27123474|PMID:27123476|PMID:27136700|PMID:27153395|PMID:27222815|PMID:27271787|PMID:27282561|PMID:27312774|PMID:27393345|PMID:27632223|PMID:27682613|PMID:27717005|PMID:27735925|PMID:27802905|PMID:27816428|PMID:27825739|PMID:27836528|PMID:27864021|PMID:27865684|PMID:27872820|PMID:27896091|PMID:27922757|PMID:28492532|PMID:28506293|PMID:28546865|PMID:28580830|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29091352|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153 11854178 GBA1 glucosylceramidase beta 1 gene DOID:0110957 Gaucher's disease type I ISO RGD:1607089 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Gaucher disease type I PMID:29602947|PMID:29625627|PMID:29685539|PMID:29842932|PMID:29934114|PMID:29980418|PMID:30115580|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30328501|PMID:30364808|PMID:30382391|PMID:30456712|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30537300|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30637984|PMID:30662625|PMID:30764785|PMID:30941926|PMID:30949558|PMID:31010158|PMID:31026225|PMID:31077260|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31256856|PMID:31561936|PMID:3180993|PMID:31816052|PMID:31943857|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32165122|PMID:32547927|PMID:32618053|PMID:32658388|PMID:32677286|PMID:32707456|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33301762|PMID:33334373|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:34280392|PMID:34426522|PMID:34649574|PMID:7475546|PMID:7627184|PMID:7655857|PMID:7694727|PMID:7789963|PMID:7916532|PMID:7981693|PMID:8081401|PMID:8118463|PMID:8160756|PMID:8213821|PMID:8280613|PMID:8294487|PMID:84325327|PMID:8432537|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8733893|PMID:8751878|PMID:8774051|PMID:8790604|PMID:8829654|PMID:8889578|PMID:8929950|PMID:9040001|PMID:9153297|PMID:9182788|PMID:9240741|PMID:9279145|PMID:9295080|PMID:9375849|PMID:9516376|PMID:9536098|PMID:9554454|PMID:9554746|PMID:9556036|PMID:9683600|PMID:9856561 11854178 GBA1 glucosylceramidase beta 1 gene DOID:0110958 Gaucher's disease type II ISO RGD:1607089 D RGD:7240710 20230505 OMIM 11854178 GBA1 glucosylceramidase beta 1 gene DOID:0110958 Gaucher's disease type II ISO RGD:1607089 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Gaucher disease type II | ClinVar Annotator: match by term: Gaucher disease, acute neuronopathic type PMID:10079102|PMID:10636167|PMID:10649495|PMID:10714667|PMID:10796875|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11783951|PMID:11933202|PMID:11992489|PMID:12204005|PMID:12482401|PMID:12595585|PMID:12838552|PMID:1301953|PMID:1348297|PMID:1415223|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15276648|PMID:1558964|PMID:15605411|PMID:15826241|PMID:1589760|PMID:15954102|PMID:16061944|PMID:16199547|PMID:16293621|PMID:16967369|PMID:1704891|PMID:17395504|PMID:17427031|PMID:17620502|PMID:17689991|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:1840477|PMID:18429048|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20301446|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21431620|PMID:21445609|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21745757|PMID:21856586|PMID:21982627|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:2269438|PMID:22713811|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23430873|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24434810|PMID:24482953|PMID:24522292|PMID:2464926|PMID:24756352|PMID:2502917|PMID:25127542|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25525159|PMID:25535748|PMID:25653295|PMID:2569551|PMID:25741868|PMID:25946768|PMID:26043810|PMID:26096741|PMID:26117366|PMID:26689913|PMID:26868973|PMID:26905200|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27682613|PMID:27717005|PMID:27735925|PMID:27802905|PMID:27825739|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29685539|PMID:29842932|PMID:29934114|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30364808|PMID:30456712|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30537300|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30764785|PMID:30941926|PMID:30949558|PMID:31010158|PMID:31026225|PMID:31077260|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31256856|PMID:31561936|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32165122|PMID:32618053|PMID:32658388|PMID:32677286|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33334373|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:34426522|PMID:34649574|PMID:7475546|PMID:7627184|PMID:7789963|PMID:7981693|PMID:8118463|PMID:8160756|PMID:8213821|PMID:8294487|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8733893|PMID:8790604|PMID:8929950|PMID:9040001|PMID:9153297|PMID:9279145|PMID:9375849|PMID:9554746|PMID:9556036 11854178 GBA1 glucosylceramidase beta 1 gene DOID:0110959 Gaucher's disease type III ISO RGD:1607089 D RGD:7240710 20230505 OMIM 11854178 GBA1 glucosylceramidase beta 1 gene DOID:0110959 Gaucher's disease type III ISO RGD:1607089 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Gaucher disease type III | ClinVar Annotator: match by term: Gaucher disease, subacute neuronopathic type PMID:10466427|PMID:10636167|PMID:10649495|PMID:10714667|PMID:10757640|PMID:10796875|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11933202|PMID:11992489|PMID:12204005|PMID:12476451|PMID:12482401|PMID:12595585|PMID:12838552|PMID:1301953|PMID:1348297|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15276648|PMID:15605411|PMID:15826241|PMID:15954102|PMID:16061944|PMID:16086325|PMID:16293621|PMID:16967369|PMID:16981045|PMID:1704891|PMID:17395504|PMID:17427031|PMID:17620502|PMID:17689991|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:1840477|PMID:18429048|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20004867|PMID:20301446|PMID:20432762|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20846888|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21056933|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21745757|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22387070|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:2269438|PMID:22713811|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24434810|PMID:24482953|PMID:24522292|PMID:2464926|PMID:24685312|PMID:24756352|PMID:2502917|PMID:2508065|PMID:25168325|PMID:25249066|PMID:25287185|PMID:25333069|PMID:25456120|PMID:25535748|PMID:25653295|PMID:2569551|PMID:25732996|PMID:25741868|PMID:25946768|PMID:26043810|PMID:26096741|PMID:26709268|PMID:26743617|PMID:26868973|PMID:26905200|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27632223|PMID:27717005|PMID:27735925|PMID:27802905|PMID:27825739|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29685539|PMID:29842932|PMID:29934114|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30364808|PMID:30382391|PMID:30456712|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30537300|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30764785|PMID:30941926|PMID:30949558|PMID:31010158|PMID:31026225|PMID:31077260|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31561936|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32165122|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33334373|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7475546|PMID:7627184|PMID:7655857|PMID:7789963|PMID:7981693|PMID:8081401|PMID:8118463|PMID:8160756|PMID:8213821|PMID:8294487|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8733893|PMID:8774051|PMID:8790604|PMID:8829654|PMID:8929950|PMID:9040001|PMID:9279145|PMID:9375849|PMID:9554746|PMID:9556036|PMID:9650766 11854178 GBA1 glucosylceramidase beta 1 gene DOID:0110960 Gaucher's disease perinatal lethal ISO RGD:1607089 D RGD:7240710 20230505 OMIM 11854178 GBA1 glucosylceramidase beta 1 gene DOID:0110960 Gaucher's disease perinatal lethal ISO RGD:1607089 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Gaucher disease collodion type | ClinVar Annotator: match by term: Gaucher disease perinatal lethal PMID:10079102|PMID:10352942|PMID:10636167|PMID:10649495|PMID:10685993|PMID:10714667|PMID:10744424|PMID:10796875|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11783951|PMID:11903352|PMID:11933202|PMID:11992489|PMID:12204005|PMID:12482401|PMID:12595585|PMID:12694238|PMID:12734541|PMID:12791040|PMID:12838552|PMID:1348297|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15214004|PMID:15605411|PMID:15690354|PMID:15826241|PMID:15967693|PMID:16061944|PMID:16293621|PMID:16546416|PMID:16967369|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17560820|PMID:17620502|PMID:17875915|PMID:18022370|PMID:18160183|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18429048|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1864608|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19459886|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20005137|PMID:20301446|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21384230|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21745757|PMID:21779299|PMID:21831682|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22227325|PMID:22234757|PMID:22375149|PMID:22388998|PMID:22451204|PMID:22526844|PMID:22592100|PMID:22623374|PMID:22658918|PMID:2269438|PMID:22713811|PMID:22812582|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23225227|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23418865|PMID:23426826|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24434810|PMID:24522292|PMID:2464926|PMID:24756352|PMID:2502917|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25535748|PMID:25653295|PMID:2569551|PMID:25741868|PMID:25946768|PMID:26000814|PMID:26096741|PMID:26117366|PMID:26296077|PMID:26467025|PMID:26847548|PMID:26868973|PMID:26905200|PMID:27008851|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27123476|PMID:27153395|PMID:27222815|PMID:27271787|PMID:27282561|PMID:27312774|PMID:27393345|PMID:27717005|PMID:27735925|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29091352|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29685539|PMID:29842932|PMID:29934114|PMID:29980418|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30328501|PMID:30364808|PMID:30456712|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30764785|PMID:30941926|PMID:31010158|PMID:31026225|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31561936|PMID:3180993|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7475546|PMID:7627184|PMID:7789963|PMID:7981693|PMID:8160756|PMID:8213821|PMID:8280613|PMID:8294487|PMID:8432537|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8751878|PMID:8774051|PMID:8790604|PMID:8889578|PMID:8929950|PMID:9040001|PMID:9153297|PMID:9375849|PMID:9554746|PMID:9556036 11854178 GBA1 glucosylceramidase beta 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1607089 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11854178 GBA1 glucosylceramidase beta 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1607089 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11854178 GBA1 glucosylceramidase beta 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1607089 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11854178 GBA1 glucosylceramidase beta 1 gene DOID:0112250 Gaucher's disease type IIIC ISO RGD:1607089 D RGD:7240710 20230505 OMIM 11854178 GBA1 glucosylceramidase beta 1 gene DOID:0112250 Gaucher's disease type IIIC ISO RGD:1607089 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: GAUCHER DISEASE, TYPE IIIC | ClinVar Annotator: match by term: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome PMID:10636167|PMID:10649495|PMID:10714667|PMID:10796875|PMID:11148530|PMID:11336129|PMID:11359469|PMID:11933202|PMID:11992489|PMID:12482401|PMID:12838552|PMID:1348297|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16061944|PMID:16293621|PMID:16967369|PMID:17395504|PMID:17427031|PMID:17620502|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20301446|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21742527|PMID:21745757|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:2269438|PMID:22713811|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24434810|PMID:24522292|PMID:2464926|PMID:24756352|PMID:2502917|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25535748|PMID:25653295|PMID:2569551|PMID:25741868|PMID:25946768|PMID:26096741|PMID:26868973|PMID:26905200|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27717005|PMID:27735925|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29842932|PMID:29934114|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30364808|PMID:30456712|PMID:30487145|PMID:30528841|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30941926|PMID:31010158|PMID:31026225|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31561936|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7475546|PMID:7627184|PMID:7789963|PMID:7981693|PMID:8160756|PMID:8213821|PMID:8294487|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8790604|PMID:8929950|PMID:9040001|PMID:9375849|PMID:9554746|PMID:9556036 11854178 GBA1 glucosylceramidase beta 1 gene DOID:12217 Lewy body dementia ISO RGD:1607089 D RGD:7240710 20230505 OMIM 11854178 GBA1 glucosylceramidase beta 1 gene DOID:12217 Lewy body dementia ISO RGD:1607089 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Diffuse Lewy body disease | ClinVar Annotator: match by term: Lewy body dementia PMID:10079102|PMID:10352942|PMID:10466427|PMID:10636167|PMID:10649495|PMID:10685993|PMID:10714667|PMID:10744424|PMID:10757640|PMID:10777718|PMID:10796875|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11783951|PMID:11903352|PMID:11933202|PMID:11992489|PMID:12204005|PMID:12482401|PMID:12587096|PMID:12595585|PMID:12838552|PMID:12972024|PMID:1301953|PMID:1348297|PMID:1415223|PMID:14578207|PMID:14757438|PMID:1487244|PMID:15146461|PMID:15276648|PMID:15352589|PMID:1558964|PMID:15605411|PMID:15826241|PMID:1589760|PMID:15954102|PMID:15967693|PMID:16061944|PMID:16086325|PMID:16185900|PMID:16185907|PMID:16199547|PMID:16293621|PMID:16967369|PMID:16981045|PMID:1704891|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17574891|PMID:17620502|PMID:17689991|PMID:17803231|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:1840477|PMID:18429048|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19394250|PMID:19513999|PMID:19527940|PMID:1961718|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20004867|PMID:20301446|PMID:20425034|PMID:20432762|PMID:20629126|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20846888|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21056933|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21384230|PMID:21431620|PMID:21445609|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21744338|PMID:21745757|PMID:21779299|PMID:21837367|PMID:21856586|PMID:21982627|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22234757|PMID:22344629|PMID:22375149|PMID:22387070|PMID:22388998|PMID:22451204|PMID:22526844|PMID:22592100|PMID:22623374|PMID:22658918|PMID:2269438|PMID:22713811|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23430873|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23699752|PMID:23719189|PMID:23757202|PMID:2378352|PMID:23811968|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24278166|PMID:24434810|PMID:24482953|PMID:24522292|PMID:2464926|PMID:24685312|PMID:24756352|PMID:24904648|PMID:2502917|PMID:2508065|PMID:25127542|PMID:25168325|PMID:25249066|PMID:25287185|PMID:25326392|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25525159|PMID:25535748|PMID:25558695|PMID:25653295|PMID:2569551|PMID:25732996|PMID:25741868|PMID:25933391|PMID:25946768|PMID:26096741|PMID:26117366|PMID:26296077|PMID:26467025|PMID:26689913|PMID:26709268|PMID:26743617|PMID:26792850|PMID:26868973|PMID:26905200|PMID:27008851|PMID:27014572|PMID:27027900|PMID:27094865|PMID:27123474|PMID:27123476|PMID:27153395|PMID:27222815|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27571329|PMID:27632223|PMID:27682613|PMID:27717005|PMID:27735925|PMID:27790088|PMID:27802905|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28034821|PMID:28492532|PMID:28506293|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29091352|PMID:29140481|PMID:29423829|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29656334|PMID:29685539|PMID:29784561|PMID:29842932|PMID:29934114|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30328501|PMID:30364808|PMID:30382391|PMID:30456712|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30537300|PMID:30548430|PMID:30573413|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30764785|PMID:30941926|PMID:30949558|PMID:31010158|PMID:31026225|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31256856|PMID:31561936|PMID:31662221|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32165122|PMID:32618053|PMID:32658388|PMID:32677286|PMID:32714263 11854178 GBA1 glucosylceramidase beta 1 gene DOID:12217 Lewy body dementia ISO RGD:1607089 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Diffuse Lewy body disease | ClinVar Annotator: match by term: Lewy body dementia PMID:32866938|PMID:32883051|PMID:32888397|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33334373|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33547828|PMID:33570220|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34017912|PMID:34072005|PMID:34073924|PMID:34275192|PMID:34426522|PMID:34649574|PMID:7475546|PMID:7627184|PMID:7655857|PMID:7789963|PMID:7916532|PMID:7981693|PMID:8081401|PMID:8118463|PMID:8160756|PMID:8213821|PMID:8280613|PMID:8294487|PMID:84325327|PMID:8432537|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8733893|PMID:8790604|PMID:8829654|PMID:8889578|PMID:8929950|PMID:9040001|PMID:9153297|PMID:9240741|PMID:9279145|PMID:9295080|PMID:9375849|PMID:9497856|PMID:9554746|PMID:9556036|PMID:9683600|PMID:9856561 11854178 GBA1 glucosylceramidase beta 1 gene DOID:14330 Parkinson's disease ISO RGD:1607089 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease PMID:10649495|PMID:10714667|PMID:10796875|PMID:11336129|PMID:12482401|PMID:1348297|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16293621|PMID:16967369|PMID:17395504|PMID:17427031|PMID:17620502|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18434642|PMID:18541817|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:1971142|PMID:1972019|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20301446|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21742527|PMID:21745757|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22713811|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24434810|PMID:24522292|PMID:2464926|PMID:24756352|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25535748|PMID:25653295|PMID:2569551|PMID:25741868|PMID:26096741|PMID:26868973|PMID:26905200|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27717005|PMID:27735925|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29842932|PMID:29934114|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30364808|PMID:30456712|PMID:30487145|PMID:30528841|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30941926|PMID:31010158|PMID:31130284|PMID:31188768|PMID:31216804|PMID:31561936|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7789963|PMID:7981693|PMID:8160756|PMID:8294487|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8929950|PMID:9375849|PMID:9554746|PMID:9556036 11854178 GBA1 glucosylceramidase beta 1 gene DOID:14330 Parkinson's disease no_association ISO RGD:1607089 D RGD:9068941 20230427 RGD DNA:missense mutations:cds:p.K-26R, p.K186R, p.N370S (human) PMID:19945510|REF_RGD_ID:5508429 11854178 GBA1 glucosylceramidase beta 1 gene DOID:14330 Parkinson's disease onset ISO RGD:1607089 D RGD:9068941 20230427 RGD DNA:missense mutation:cds:p.N370S (human) PMID:20528910|REF_RGD_ID:5508427 11854178 GBA1 glucosylceramidase beta 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1607089 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11854178 GBA1 glucosylceramidase beta 1 gene DOID:1588 thrombocytopenia ISO RGD:1607089 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10796875|PMID:12482401|PMID:1348297|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16293621|PMID:17395504|PMID:17427031|PMID:17875915|PMID:18332251|PMID:18338393|PMID:18434642|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:1971142|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20301446|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:2117855|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700325|PMID:21742527|PMID:21745757|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23277556|PMID:23588557|PMID:23642305|PMID:23676350|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24195576|PMID:24434810|PMID:24756352|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25653295|PMID:2569551|PMID:25741868|PMID:26096741|PMID:26868973|PMID:26905200|PMID:27094865|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27735925|PMID:27872820|PMID:28492532|PMID:28779532|PMID:28834018|PMID:28923368|PMID:28966932|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29487000|PMID:29527153|PMID:29625627|PMID:29842932|PMID:30146349|PMID:30216542|PMID:30302829|PMID:30364808|PMID:30487145|PMID:30528841|PMID:30606667|PMID:30609409|PMID:31188768|PMID:31996268|PMID:32042592|PMID:32658388|PMID:32714263|PMID:33223529|PMID:33281709|PMID:33473340|PMID:3353383|PMID:7789963|PMID:8160756|PMID:8294487|PMID:8450045|PMID:8487270|PMID:8516282|PMID:9554746|PMID:9556036 11854178 GBA1 glucosylceramidase beta 1 gene DOID:1926 Gaucher's disease ISO RGD:1607089 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Acid beta-glucosidase deficiency | ClinVar Annotator: match by term: Gaucher disease | ClinVar Annotator: match by term: Kerasin thesaurismosis PMID:10079102|PMID:10352942|PMID:10369158|PMID:10466427|PMID:10636167|PMID:10649495|PMID:10679038|PMID:10685993|PMID:10714667|PMID:10744424|PMID:10757640|PMID:10777718|PMID:10796875|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11406344|PMID:11600137|PMID:11783951|PMID:11903352|PMID:11933202|PMID:11992489|PMID:12000368|PMID:12204005|PMID:12476451|PMID:12482401|PMID:12587096|PMID:12595585|PMID:12667990|PMID:12694238|PMID:12734541|PMID:12791040|PMID:12838552|PMID:12972024|PMID:1301953|PMID:1348297|PMID:1415223|PMID:14509164|PMID:14578207|PMID:14728994|PMID:14757438|PMID:1487244|PMID:14994233|PMID:15146461|PMID:15214004|PMID:15276648|PMID:15329082|PMID:15352589|PMID:1558964|PMID:15605411|PMID:15690354|PMID:15826241|PMID:1589760|PMID:15943874|PMID:15954102|PMID:15967693|PMID:16061944|PMID:16086325|PMID:16185900|PMID:16185907|PMID:16199547|PMID:16293621|PMID:16326120|PMID:16329099|PMID:16546416|PMID:16967369|PMID:16981045|PMID:1704891|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17560820|PMID:17574891|PMID:17576681|PMID:17620502|PMID:17689991|PMID:17803231|PMID:17875915|PMID:18022370|PMID:18030725|PMID:18078074|PMID:18160183|PMID:18332251|PMID:18338393|PMID:18347322|PMID:1840477|PMID:18429048|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1864608|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19026343|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19394250|PMID:19433656|PMID:19459886|PMID:19513999|PMID:19527940|PMID:1961718|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19790257|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20004867|PMID:20005137|PMID:20301446|PMID:20425034|PMID:20432762|PMID:20629126|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20846888|PMID:20880730|PMID:20946052|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21056933|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21384230|PMID:21431620|PMID:21445609|PMID:21455010|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21744338|PMID:21745757|PMID:21779299|PMID:21823541|PMID:21831682|PMID:21837367|PMID:21856586|PMID:21982627|PMID:22006919|PMID:22112991|PMID:22160715|PMID:22173904|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22227325|PMID:22234757|PMID:22247978|PMID:22344629|PMID:22350617|PMID:22375149|PMID:22387070|PMID:22388998|PMID:22429443|PMID:22451204|PMID:22526844|PMID:22592100|PMID:22623374|PMID:22658918|PMID:2269438|PMID:22713811|PMID:22791670|PMID:22812582|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23056756|PMID:2309702|PMID:23225227|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23332636|PMID:23386328|PMID:23418865|PMID:23426826|PMID:23430543|PMID:23430873|PMID:23430949|PMID:23448517|PMID:2349952|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23699752|PMID:23719189|PMID:23757202|PMID:2378352|PMID:23811968|PMID:23936319|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24278166|PMID:24313877|PMID:24434810|PMID:24482953|PMID:24522292|PMID:2464926|PMID:24685312|PMID:24756352|PMID:24801745|PMID:24904648|PMID:2502917|PMID:2508065|PMID:25084554|PMID:25127542|PMID:25168325|PMID:25249066|PMID:25287185|PMID:25326392|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25482214|PMID:25525159|PMID:25535748|PMID:25558695|PMID:25637381|PMID:25653295|PMID:2569551|PMID:25732996|PMID:25741868|PMID:25829804|PMID:25933391|PMID:25946768|PMID:26000814|PMID:26008600|PMID:26043810|PMID:26051481|PMID:26096741|PMID:26117366|PMID:26220978|PMID:26296077|PMID:26467025|PMID:26689913|PMID:26709268|PMID:26743617|PMID:26756743|PMID:26792850|PMID:26847548|PMID:26868973|PMID:26905200|PMID:27008195|PMID:27008851|PMID:27014572|PMID:27027900|PMID:27094865|PMID:27123474|PMID:27123476|PMID:27136700|PMID:27153395|PMID:27222815|PMID:27271787|PMID:27282561|PMID:27312774|PMID:27393345|PMID:27571329|PMID:27632223|PMID:27682613|PMID:27717005|PMID:27735925|PMID:27790088|PMID:27802905 11854178 GBA1 glucosylceramidase beta 1 gene DOID:1926 Gaucher's disease ISO RGD:1607089 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Acid beta-glucosidase deficiency | ClinVar Annotator: match by term: Gaucher disease | ClinVar Annotator: match by term: Kerasin thesaurismosis PMID:27816428|PMID:27825739|PMID:27836528|PMID:27864021|PMID:27865684|PMID:27872820|PMID:27896091|PMID:27922757|PMID:28034821|PMID:28492532|PMID:28506293|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29091352|PMID:29140481|PMID:29423829|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29656334|PMID:29685539|PMID:29784561|PMID:29842932|PMID:29934114|PMID:29980418|PMID:30115580|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30328501|PMID:30364808|PMID:30382391|PMID:30456712|PMID:30461613|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30537300|PMID:30548430|PMID:30573413|PMID:30606667|PMID:30609409|PMID:30637984|PMID:30662625|PMID:30764785|PMID:30941926|PMID:30949558|PMID:31010158|PMID:31026225|PMID:31077260|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31256856|PMID:31561936|PMID:31662221|PMID:3180993|PMID:31816052|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32165122|PMID:32547927|PMID:32618053|PMID:32623306|PMID:32658388|PMID:32677286|PMID:32707456|PMID:32714263|PMID:32866938|PMID:32883051|PMID:32888397|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33301762|PMID:33334373|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33547828|PMID:33570220|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34017912|PMID:34072005|PMID:34073924|PMID:34134921|PMID:34275192|PMID:34280392|PMID:34426522|PMID:34649574|PMID:7475546|PMID:7500895|PMID:7627184|PMID:7655857|PMID:7694727|PMID:7789963|PMID:7916532|PMID:7981693|PMID:8081401|PMID:8118463|PMID:8160756|PMID:8213821|PMID:8280613|PMID:8294487|PMID:84325327|PMID:8432537|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8547070|PMID:8733893|PMID:8774051|PMID:8790604|PMID:8829654|PMID:8889578|PMID:8929950|PMID:9040001|PMID:9153297|PMID:9182788|PMID:9240741|PMID:9279145|PMID:9295080|PMID:9375849|PMID:9497856|PMID:9516376|PMID:9536098|PMID:9554454|PMID:9554746|PMID:9556036|PMID:9683600|PMID:9856561 11854178 GBA1 glucosylceramidase beta 1 gene DOID:2213 hemorrhagic disease ISO RGD:1607089 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:10466427|PMID:10757640|PMID:10796875|PMID:12482401|PMID:12595585|PMID:1348297|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16293621|PMID:16981045|PMID:17395504|PMID:17427031|PMID:17875915|PMID:18332251|PMID:18338393|PMID:18434642|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:1971142|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20301446|PMID:20432762|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20846888|PMID:20947659|PMID:20980259|PMID:20980263|PMID:2117855|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700325|PMID:21742527|PMID:21745757|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23277556|PMID:23430543|PMID:23588557|PMID:23642305|PMID:23676350|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24195576|PMID:24434810|PMID:24756352|PMID:25168325|PMID:25249066|PMID:25287185|PMID:25333069|PMID:25456120|PMID:25653295|PMID:2569551|PMID:25732996|PMID:25741868|PMID:25946768|PMID:26096741|PMID:26868973|PMID:26905200|PMID:27094865|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27632223|PMID:27735925|PMID:27872820|PMID:28492532|PMID:28779532|PMID:28834018|PMID:28923368|PMID:28966932|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29487000|PMID:29527153|PMID:29625627|PMID:29842932|PMID:30146349|PMID:30216542|PMID:30302829|PMID:30364808|PMID:30487145|PMID:30528841|PMID:30606667|PMID:30609409|PMID:31188768|PMID:31996268|PMID:32042592|PMID:32658388|PMID:32714263|PMID:33223529|PMID:33281709|PMID:33473340|PMID:3353383|PMID:7789963|PMID:8081401|PMID:8160756|PMID:8294487|PMID:8450045|PMID:8487270|PMID:8516282|PMID:9153297|PMID:9554746|PMID:9556036 11854178 GBA1 glucosylceramidase beta 1 gene DOID:480 movement disease ISO RGD:1607089 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Movement disorder PMID:10649495|PMID:10714667|PMID:10796875|PMID:11336129|PMID:14757438|PMID:15146461|PMID:15605411|PMID:16293621|PMID:16967369|PMID:17427031|PMID:17620502|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18541817|PMID:18987351|PMID:1899336|PMID:19286695|PMID:1972019|PMID:20004703|PMID:20301446|PMID:20816920|PMID:21106416|PMID:21228398|PMID:21472771|PMID:21700212|PMID:21700325|PMID:21742527|PMID:21745757|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22623374|PMID:22713811|PMID:22975760|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24522292|PMID:2464926|PMID:25249066|PMID:25333069|PMID:25535748|PMID:2569551|PMID:25741868|PMID:26096741|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27717005|PMID:27865684|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:2880291|PMID:28894968|PMID:28947706|PMID:28969384|PMID:29029963|PMID:29471591|PMID:29487000|PMID:29602947|PMID:29625627|PMID:29934114|PMID:30146349|PMID:30285649|PMID:30456712|PMID:30548430|PMID:30606667|PMID:30662625|PMID:30941926|PMID:31010158|PMID:31130284|PMID:31216804|PMID:31561936|PMID:32014045|PMID:32618053|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33402667|PMID:33473340|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7981693|PMID:8160756|PMID:8294487|PMID:8929950|PMID:9375849 11854178 GBA1 glucosylceramidase beta 1 gene DOID:5812 MHC class II deficiency ISO RGD:1607089 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11854178 GBA1 glucosylceramidase beta 1 gene DOID:630 genetic disease ISO RGD:1607089 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10079102|PMID:10369158|PMID:10636167|PMID:10649495|PMID:10679038|PMID:10685993|PMID:10714667|PMID:10744424|PMID:10757640|PMID:10796875|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11783951|PMID:11903352|PMID:11933202|PMID:11992489|PMID:12204005|PMID:12482401|PMID:12587096|PMID:12595585|PMID:12694238|PMID:12734541|PMID:12838552|PMID:12972024|PMID:1301953|PMID:1348297|PMID:1415223|PMID:14578207|PMID:14757438|PMID:1487244|PMID:15146461|PMID:15276648|PMID:15329082|PMID:1558964|PMID:15605411|PMID:15690354|PMID:15826241|PMID:1589760|PMID:15954102|PMID:15967693|PMID:16061944|PMID:16185900|PMID:16185907|PMID:16199547|PMID:16293621|PMID:16967369|PMID:1704891|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17620502|PMID:17689991|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:1840477|PMID:18429048|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19459886|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20301446|PMID:20629126|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21744338|PMID:21745757|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22247978|PMID:22344629|PMID:22388998|PMID:22451204|PMID:22526844|PMID:22592100|PMID:22623374|PMID:2269438|PMID:22713811|PMID:22791670|PMID:22812582|PMID:22820396|PMID:2295698|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23035075|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23426826|PMID:23430543|PMID:23430873|PMID:23430949|PMID:23448517|PMID:2349952|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23699752|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24278166|PMID:24434810|PMID:24482953|PMID:24522292|PMID:2464926|PMID:24756352|PMID:24801745|PMID:2502917|PMID:25127542|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25482214|PMID:25525159|PMID:25535748|PMID:25558695|PMID:25653295|PMID:2569551|PMID:25741868|PMID:25933391|PMID:25946768|PMID:26008600|PMID:26096741|PMID:26117366|PMID:26220978|PMID:26689913|PMID:26847548|PMID:26868973|PMID:26905200|PMID:27007895|PMID:27008195|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27136700|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27682613|PMID:27717005|PMID:27735925|PMID:27802905|PMID:27816428|PMID:27836528|PMID:27864021|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28030538|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29685539|PMID:29842932|PMID:29854527|PMID:29934114|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30364808|PMID:30456712|PMID:30461613|PMID:30487145|PMID:30528841|PMID:30537300|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30764785|PMID:30941926|PMID:30949558|PMID:31010158|PMID:31026225|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31561936|PMID:31996268|PMID:32014045|PMID:32031266|PMID:32042592|PMID:32165122|PMID:32547927|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33334373|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7475546|PMID:7627184|PMID:7655857|PMID:7789963|PMID:7857677|PMID:7916532|PMID:7981693|PMID:8118463|PMID:8160756|PMID:8213821|PMID:8294487|PMID:84325327|PMID:8432537|PMID:8450045 11854178 GBA1 glucosylceramidase beta 1 gene DOID:630 genetic disease ISO RGD:1607089 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:8487270|PMID:8516282|PMID:8544197|PMID:8733893|PMID:8774051|PMID:8790604|PMID:8889578|PMID:8929950|PMID:9040001|PMID:9153297|PMID:9175735|PMID:9240741|PMID:9279145|PMID:9375849|PMID:9516376|PMID:9554454|PMID:9554746|PMID:9556036 11854178 GBA1 glucosylceramidase beta 1 gene DOID:6432 pulmonary hypertension ISO RGD:1607089 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:12359135 11854178 GBA1 glucosylceramidase beta 1 gene DOID:687 hepatoblastoma ISO RGD:1607089 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868 11854178 GBA1 glucosylceramidase beta 1 gene DOID:8893 psoriasis ISO RGD:1607089 D RGD:9068941 20230427 RGD PMID:15610510|REF_RGD_ID:5508434 11854178 GBA1 glucosylceramidase beta 1 gene DOID:9000495 Tremor ISO RGD:1607089 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Resting tremor PMID:10649495|PMID:10714667|PMID:10796875|PMID:11336129|PMID:14757438|PMID:15146461|PMID:15605411|PMID:16293621|PMID:16967369|PMID:17427031|PMID:17620502|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18541817|PMID:18987351|PMID:1899336|PMID:19286695|PMID:1972019|PMID:20004703|PMID:20301446|PMID:20816920|PMID:21106416|PMID:21228398|PMID:21472771|PMID:21700212|PMID:21700325|PMID:21742527|PMID:21745757|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22623374|PMID:22713811|PMID:22975760|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24522292|PMID:2464926|PMID:25249066|PMID:25333069|PMID:25535748|PMID:2569551|PMID:25741868|PMID:26096741|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27717005|PMID:27865684|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:2880291|PMID:28894968|PMID:28947706|PMID:28969384|PMID:29029963|PMID:29471591|PMID:29487000|PMID:29602947|PMID:29625627|PMID:29934114|PMID:30146349|PMID:30285649|PMID:30456712|PMID:30548430|PMID:30606667|PMID:30662625|PMID:30941926|PMID:31010158|PMID:31130284|PMID:31216804|PMID:31561936|PMID:32014045|PMID:32618053|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33402667|PMID:33473340|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7981693|PMID:8160756|PMID:8294487|PMID:8929950|PMID:9375849 11854178 GBA1 glucosylceramidase beta 1 gene DOID:9005372 Inflammation ISO RGD:1623310 D RGD:9068941 20230427 RGD PMID:11994410|REF_RGD_ID:5508435 11854178 GBA1 glucosylceramidase beta 1 gene DOID:9005940 Autosomal Dominant Diffuse Lewy Body Disease ISO RGD:1607089 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease PMID:10649495|PMID:10714667|PMID:10796875|PMID:11336129|PMID:12482401|PMID:1348297|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16293621|PMID:16967369|PMID:17395504|PMID:17427031|PMID:17620502|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18434642|PMID:18541817|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:1971142|PMID:1972019|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20301446|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21742527|PMID:21745757|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22713811|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24434810|PMID:24522292|PMID:2464926|PMID:24756352|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25535748|PMID:25653295|PMID:2569551|PMID:25741868|PMID:26096741|PMID:26868973|PMID:26905200|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27717005|PMID:27735925|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29842932|PMID:29934114|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30364808|PMID:30456712|PMID:30487145|PMID:30528841|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30941926|PMID:31010158|PMID:31130284|PMID:31188768|PMID:31216804|PMID:31561936|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7789963|PMID:7981693|PMID:8160756|PMID:8294487|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8929950|PMID:9375849|PMID:9554746|PMID:9556036 11854178 GBA1 glucosylceramidase beta 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607089 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11854193 CCDC185 coiled-coil domain containing 185 gene DOID:1540 parathyroid carcinoma ISO RGD:1602974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11854193 CCDC185 coiled-coil domain containing 185 gene DOID:630 genetic disease ISO RGD:1602974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854193 CCDC185 coiled-coil domain containing 185 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11854198 ZNF157 zinc finger protein 157 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11854198 ZNF157 zinc finger protein 157 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1344228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 11854198 ZNF157 zinc finger protein 157 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1344228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11854198 ZNF157 zinc finger protein 157 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1344228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11854198 ZNF157 zinc finger protein 157 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1344228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 11854198 ZNF157 zinc finger protein 157 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1344228 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 11854198 ZNF157 zinc finger protein 157 gene DOID:12849 autistic disorder ISO RGD:1344228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11854198 ZNF157 zinc finger protein 157 gene DOID:630 genetic disease ISO RGD:1344228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854215 CAMSAP3 calmodulin regulated spectrin associated protein family member 3 gene DOID:0080490 mucolipidosis type IV ISO RGD:1316325 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11854215 CAMSAP3 calmodulin regulated spectrin associated protein family member 3 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1316325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 11854215 CAMSAP3 calmodulin regulated spectrin associated protein family member 3 gene DOID:630 genetic disease ISO RGD:1316325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854260 SIRPD signal regulatory protein delta gene DOID:0080600 COVID-19 ISO RGD:1353362 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11854260 SIRPD signal regulatory protein delta gene DOID:630 genetic disease ISO RGD:1353362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854268 LOC100991861 histone H3.1 gene DOID:3068 glioblastoma ISO RGD:1347747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22286216 11854268 LOC100991861 histone H3.1 gene DOID:3070 high grade glioma ISO RGD:1347747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22286216 11854268 LOC100991861 histone H3.1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1347747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 11854273 ACP4 acid phosphatase 4 gene DOID:0080953 amelogenesis imperfecta type 1J ISO RGD:1317948 D RGD:7240710 20190315 OMIM 11854273 ACP4 acid phosphatase 4 gene DOID:0080953 amelogenesis imperfecta type 1J ISO RGD:1317948 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1J PMID:25741868|PMID:27843125|PMID:28513613 11854273 ACP4 acid phosphatase 4 gene DOID:2187 amelogenesis imperfecta ISO RGD:1317948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta PMID:27843125 11854273 ACP4 acid phosphatase 4 gene DOID:630 genetic disease ISO RGD:1317948 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854287 LSM2 LSM2 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:0050553 JMP syndrome ISO RGD:1350592 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11854296 MRPL20 mitochondrial ribosomal protein L20 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11854296 MRPL20 mitochondrial ribosomal protein L20 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1319575 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11854296 MRPL20 mitochondrial ribosomal protein L20 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1319575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11854296 MRPL20 mitochondrial ribosomal protein L20 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1319575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11854296 MRPL20 mitochondrial ribosomal protein L20 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1319575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11854296 MRPL20 mitochondrial ribosomal protein L20 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1319575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11854296 MRPL20 mitochondrial ribosomal protein L20 gene DOID:0111934 immunodeficiency 38 ISO RGD:1319575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11854296 MRPL20 mitochondrial ribosomal protein L20 gene DOID:0111935 immunodeficiency 16 ISO RGD:1319575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11854296 MRPL20 mitochondrial ribosomal protein L20 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11854296 MRPL20 mitochondrial ribosomal protein L20 gene DOID:630 genetic disease ISO RGD:1319575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854296 MRPL20 mitochondrial ribosomal protein L20 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11854296 MRPL20 mitochondrial ribosomal protein L20 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1319575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11854296 MRPL20 mitochondrial ribosomal protein L20 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1319575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11854309 COCH cochlin gene DOID:0050439 Usher syndrome ISO RGD:1318365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:30311386 11854309 COCH cochlin gene DOID:0050563 nonsyndromic deafness ISO RGD:1318365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:10400989|PMID:11332404|PMID:14512963|PMID:16151338|PMID:16481359|PMID:19161137|PMID:24033266|PMID:24662630|PMID:25230692|PMID:28492532|PMID:28733840|PMID:30311386|PMID:9931344 11854309 COCH cochlin gene DOID:0110593 autosomal dominant nonsyndromic deafness 9 ISO RGD:1318365 D RGD:7240710 20180130 OMIM 11854309 COCH cochlin gene DOID:0110593 autosomal dominant nonsyndromic deafness 9 ISO RGD:1318365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 9 PMID:10400989|PMID:11332404|PMID:12928864|PMID:14512963|PMID:16151338|PMID:16261627|PMID:16481359|PMID:18312449|PMID:19161137|PMID:22534022|PMID:24033266|PMID:24662630|PMID:25230692|PMID:25741868|PMID:25780252|PMID:26467025|PMID:28492532|PMID:28733840|PMID:30311386|PMID:8817345|PMID:9806553|PMID:9931344 11854309 COCH cochlin gene DOID:0111644 autosomal recessive nonsyndromic deafness 110 ISO RGD:1318365 D RGD:7240710 20200129 OMIM 11854309 COCH cochlin gene DOID:0111644 autosomal recessive nonsyndromic deafness 110 ISO RGD:1318365 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 110 PMID:24033266|PMID:25741868|PMID:28492532|PMID:29449721 11854309 COCH cochlin gene DOID:10003 sensorineural hearing loss ISO RGD:1318365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:16261627|PMID:19461658|PMID:25780252|PMID:28492532|PMID:30311386|PMID:34652575 11854309 COCH cochlin gene DOID:630 genetic disease ISO RGD:1318365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11854309 COCH cochlin gene DOID:9004538 Hearing Loss ISO RGD:1318365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:10400989|PMID:11332404|PMID:16151338|PMID:16481359|PMID:19161137|PMID:24033266|PMID:24662630|PMID:28733840|PMID:30311386|PMID:9931344 11854309 COCH cochlin gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1318365 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11854309 COCH cochlin gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1318365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant 11854309 COCH cochlin gene DOID:9008681 Deafness susceptibility ISO RGD:1318365 D RGD:9068941 20200609 RGD deafness, autosomal dominant nonsyndromic sensorineural 9, OMIM:9601369;DNA:missense mutations PMID:9806553|REF_RGD_ID:1600878 11854325 TMEM121B transmembrane protein 121B gene DOID:0080600 COVID-19 ISO RGD:1349802 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11854325 TMEM121B transmembrane protein 121B gene DOID:0111996 immunodeficiency 51 ISO RGD:1349802 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 51 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11854325 TMEM121B transmembrane protein 121B gene DOID:630 genetic disease ISO RGD:1349802 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854325 TMEM121B transmembrane protein 121B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349802 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11854325 TMEM121B transmembrane protein 121B gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1349802 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11854330 ZFP30 ZFP30 zinc finger protein gene DOID:630 genetic disease ISO RGD:1605092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854330 ZFP30 ZFP30 zinc finger protein gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1605092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 11854353 EBLN2 endogenous Bornavirus like nucleoprotein 2 gene DOID:630 genetic disease ISO RGD:1602876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854358 GPR162 G protein-coupled receptor 162 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1603661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11854358 GPR162 G protein-coupled receptor 162 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1603661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11854358 GPR162 G protein-coupled receptor 162 gene DOID:0111621 Temtamy syndrome ISO RGD:1603661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11854358 GPR162 G protein-coupled receptor 162 gene DOID:630 genetic disease ISO RGD:1603661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854358 GPR162 G protein-coupled receptor 162 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1603661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11854372 ACAD11 acyl-CoA dehydrogenase family member 11 gene DOID:0080424 developmental and epileptic encephalopathy 44 ISO RGD:1604580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 44 PMID:25741868 11854372 ACAD11 acyl-CoA dehydrogenase family member 11 gene DOID:12712 nephronophthisis ISO RGD:1604580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 11854372 ACAD11 acyl-CoA dehydrogenase family member 11 gene DOID:630 genetic disease ISO RGD:1604580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854372 ACAD11 acyl-CoA dehydrogenase family member 11 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1604580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 11854372 ACAD11 acyl-CoA dehydrogenase family member 11 gene DOID:9270 alkaptonuria ISO RGD:1604580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11854431 XRCC2 X-ray repair cross complementing 2 gene DOID:0080874 primary ovarian insufficiency 17 ISO RGD:1349181 D RGD:7240710 20210113 OMIM 11854431 XRCC2 X-ray repair cross complementing 2 gene DOID:0080874 primary ovarian insufficiency 17 ISO RGD:1349181 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 17 PMID:30042186|PMID:30489636|PMID:33194656 11854431 XRCC2 X-ray repair cross complementing 2 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1349181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:18348270|PMID:25606385|PMID:28492532 11854431 XRCC2 X-ray repair cross complementing 2 gene DOID:0111085 Fanconi anemia complementation group U ISO RGD:1349181 D RGD:7240710 20190315 OMIM 11854431 XRCC2 X-ray repair cross complementing 2 gene DOID:0111085 Fanconi anemia complementation group U ISO RGD:1349181 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group U PMID:11118202|PMID:22232082|PMID:22464251|PMID:23054243|PMID:23383274|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26689913|PMID:26787654|PMID:26845104|PMID:27208205|PMID:27233470|PMID:28486781|PMID:28492532|PMID:28767289|PMID:28779002|PMID:28864920|PMID:30306255|PMID:32832836|PMID:32860008|PMID:33471991 11854431 XRCC2 X-ray repair cross complementing 2 gene DOID:0112272 spermatogenic failure 50 ISO RGD:1349181 D RGD:7240710 20210113 OMIM 11854431 XRCC2 X-ray repair cross complementing 2 gene DOID:0112272 spermatogenic failure 50 ISO RGD:1349181 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 50 PMID:30042186|PMID:30489636|PMID:33194656 11854431 XRCC2 X-ray repair cross complementing 2 gene DOID:12849 autistic disorder ISO RGD:1349181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11854431 XRCC2 X-ray repair cross complementing 2 gene DOID:1793 pancreatic cancer ISO RGD:1349181 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs3218536 (human) PMID:16540687|REF_RGD_ID:2317365 11854431 XRCC2 X-ray repair cross complementing 2 gene DOID:1793 pancreatic cancer ISO RGD:1349181 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R188H (human) PMID:17986315|REF_RGD_ID:2317507 11854431 XRCC2 X-ray repair cross complementing 2 gene DOID:219 colon cancer ISO RGD:1349181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:23054243|PMID:25637381|PMID:25741868|PMID:27233470|PMID:28492532|PMID:28767289 11854431 XRCC2 X-ray repair cross complementing 2 gene DOID:2843 long QT syndrome ISO RGD:1349181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11854431 XRCC2 X-ray repair cross complementing 2 gene DOID:3459 breast carcinoma ISO RGD:1349181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:25330149|PMID:25452441|PMID:26681312|PMID:26845104|PMID:28492532|PMID:30322717|PMID:31463769 11854431 XRCC2 X-ray repair cross complementing 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1349181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:32566746 11854431 XRCC2 X-ray repair cross complementing 2 gene DOID:630 genetic disease ISO RGD:1349181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854431 XRCC2 X-ray repair cross complementing 2 gene DOID:9002620 SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION ISO RGD:1349181 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Short stature, microcephaly, and endocrine dysfunction PMID:11118202|PMID:22232082|PMID:26046366|PMID:26845104|PMID:27208205|PMID:27233470|PMID:28486781|PMID:28492532|PMID:30306255|PMID:32832836 11854431 XRCC2 X-ray repair cross complementing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11118202|PMID:12455067|PMID:15855896|PMID:17576681|PMID:22232082|PMID:22464251|PMID:22481871|PMID:23054243|PMID:25330149|PMID:25452441|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26845104|PMID:27208205|PMID:27233470|PMID:28486781|PMID:28492532|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28864920|PMID:28912153|PMID:29255180|PMID:29739106|PMID:29915322|PMID:30306255|PMID:30322717|PMID:31159747|PMID:31463769|PMID:9536098 11854431 XRCC2 X-ray repair cross complementing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349181 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11118202|PMID:12455067|PMID:15855896|PMID:17576681|PMID:22232082|PMID:22464251|PMID:22481871|PMID:23054243|PMID:25330149|PMID:25452441|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26845104|PMID:27208205|PMID:27233470|PMID:28486781|PMID:28492532|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28864920|PMID:28912153|PMID:29255180|PMID:29739106|PMID:29915322|PMID:30306255|PMID:30322717|PMID:31463769|PMID:9536098 11854431 XRCC2 X-ray repair cross complementing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349181 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11118202|PMID:12455067|PMID:15855896|PMID:17557904|PMID:17576681|PMID:22232082|PMID:22464251|PMID:22481871|PMID:23054243|PMID:23383274|PMID:25330149|PMID:25452441|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26845104|PMID:27208205|PMID:27233470|PMID:28135048|PMID:28486781|PMID:28492532|PMID:28715532|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28864920|PMID:28912153|PMID:29255180|PMID:29641532|PMID:29739106|PMID:29915322|PMID:30042186|PMID:30306255|PMID:30322717|PMID:30489636|PMID:30613976|PMID:31159747|PMID:31463769|PMID:31779681|PMID:31911633|PMID:32235514|PMID:32658311|PMID:32832836|PMID:32860008|PMID:33194656|PMID:33471991|PMID:3471991|PMID:36113475|PMID:9536098 11854431 XRCC2 X-ray repair cross complementing 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1349181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12023982 11854431 XRCC2 X-ray repair cross complementing 2 gene DOID:9256 colorectal cancer ISO RGD:1349181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:28492532 11854431 XRCC2 X-ray repair cross complementing 2 gene DOID:9256 colorectal cancer ISO RGD:1349181 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:28492532|PMID:32235514 11854438 SACM1L SAC1 like phosphatidylinositide phosphatase gene DOID:630 genetic disease ISO RGD:733012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854438 SACM1L SAC1 like phosphatidylinositide phosphatase gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:733012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11854462 SLC16A14 solute carrier family 16 member 14 gene DOID:630 genetic disease ISO RGD:1320146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854471 ICMT isoprenylcysteine carboxyl methyltransferase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603405 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11854471 ICMT isoprenylcysteine carboxyl methyltransferase gene DOID:630 genetic disease ISO RGD:1603405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854471 ICMT isoprenylcysteine carboxyl methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11854485 BOLA1 bolA family member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11854485 BOLA1 bolA family member 1 gene DOID:630 genetic disease ISO RGD:1606296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854485 BOLA1 bolA family member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11854499 CNPY4 canopy FGF signaling regulator 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11854499 CNPY4 canopy FGF signaling regulator 4 gene DOID:630 genetic disease ISO RGD:1606674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854499 CNPY4 canopy FGF signaling regulator 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11854509 SERPINA1 serpin family A member 1 gene DOID:0060186 chemical colitis treatment ISO RGD:1349357 D RGD:9068941 20200609 RGD PMID:23835442|REF_RGD_ID:14695050 11854509 SERPINA1 serpin family A member 1 gene DOID:0060189 ileitis treatment ISO RGD:1349357 D RGD:9068941 20200609 RGD PMID:23835442|REF_RGD_ID:14695050 11854509 SERPINA1 serpin family A member 1 gene DOID:0070313 thiamine deficiency disease ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659342 11854509 SERPINA1 serpin family A member 1 gene DOID:0080054 achondrogenesis type IA ISO RGD:1349357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11854509 SERPINA1 serpin family A member 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1349357 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 11854509 SERPINA1 serpin family A member 1 gene DOID:0080600 COVID-19 ISO RGD:1349357 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease (COVID-19) PMID:10194472|PMID:1082356|PMID:12034572|PMID:14522813|PMID:15115878|PMID:15454649|PMID:15711957|PMID:15978931|PMID:15994391|PMID:1608473|PMID:16608528|PMID:17964515|PMID:18187064|PMID:18294358|PMID:18340647|PMID:18414213|PMID:18515255|PMID:18565211|PMID:18566672|PMID:18682522|PMID:1889260|PMID:19083091|PMID:19398551|PMID:19444872|PMID:19738092|PMID:19956452|PMID:20301692|PMID:20981092|PMID:21067581|PMID:21228398|PMID:21637600|PMID:21960536|PMID:22426792|PMID:22735536|PMID:22912729|PMID:22933512|PMID:22971141|PMID:22975760|PMID:2339709|PMID:23484243|PMID:23632999|PMID:23837941|PMID:23858502|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24328305|PMID:24428606|PMID:24518491|PMID:24592811|PMID:25181470|PMID:25454901|PMID:25637381|PMID:2567291|PMID:25738741|PMID:25741868|PMID:2575668|PMID:25966443|PMID:26141072|PMID:26243289|PMID:26304913|PMID:26310624|PMID:26647313|PMID:26672964|PMID:26771213|PMID:26831755|PMID:2696185|PMID:26987331|PMID:2700304|PMID:27153395|PMID:27246852|PMID:27465791|PMID:27535533|PMID:27959697|PMID:28146470|PMID:28492532|PMID:2904702|PMID:29083408|PMID:29153744|PMID:29232161|PMID:29431110|PMID:29618937|PMID:29644095|PMID:29882371|PMID:2989709|PMID:30068317|PMID:30068662|PMID:301355|PMID:30254761|PMID:30585791|PMID:30739910|PMID:31028937|PMID:31216405|PMID:31447099|PMID:31564432|PMID:31980526|PMID:32087139|PMID:3264419|PMID:32699024|PMID:33144682|PMID:33726816|PMID:34408828|PMID:34408829|PMID:3484754|PMID:3500183|PMID:3537008|PMID:3875547|PMID:6093867|PMID:6306478|PMID:6602622|PMID:7045697|PMID:7227484|PMID:8970361|PMID:9041988|PMID:9195389|PMID:9569237 11854509 SERPINA1 serpin family A member 1 gene DOID:0080984 X-linked intellectual developmental disorder 109 ISO RGD:1349357 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 PMID:12034572|PMID:14522813|PMID:15115878|PMID:15454649|PMID:15978931|PMID:1608473|PMID:17964515|PMID:18294358|PMID:18340647|PMID:18414213|PMID:18515255|PMID:18682522|PMID:1889260|PMID:19083091|PMID:19398551|PMID:19444872|PMID:19738092|PMID:20301692|PMID:20981092|PMID:21067581|PMID:21228398|PMID:21637600|PMID:21960536|PMID:22426792|PMID:22735536|PMID:22912729|PMID:22933512|PMID:22971141|PMID:22975760|PMID:2339709|PMID:23484243|PMID:23632999|PMID:23837941|PMID:23858502|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24328305|PMID:24428606|PMID:24518491|PMID:24592811|PMID:25181470|PMID:25637381|PMID:25738741|PMID:25741868|PMID:2575668|PMID:25966443|PMID:26243289|PMID:26304913|PMID:26310624|PMID:26647313|PMID:26672964|PMID:26771213|PMID:26831755|PMID:2696185|PMID:26987331|PMID:2700304|PMID:27153395|PMID:27246852|PMID:27535533|PMID:27959697|PMID:28146470|PMID:28492532|PMID:2904702|PMID:29083408|PMID:29153744|PMID:29431110|PMID:29618937|PMID:29644095|PMID:29882371|PMID:2989709|PMID:30068317|PMID:30068662|PMID:30254761|PMID:30739910|PMID:31028937|PMID:31216405|PMID:31447099|PMID:31564432|PMID:31980526|PMID:32087139|PMID:3264419|PMID:32699024|PMID:33144682|PMID:33726816|PMID:34408828|PMID:34408829|PMID:3484754|PMID:3500183|PMID:3537008|PMID:3875547|PMID:6306478|PMID:7045697|PMID:7227484|PMID:8970361|PMID:9041988|PMID:9195389|PMID:9569237 11854509 SERPINA1 serpin family A member 1 gene DOID:0081063 DICER1 syndrome ISO RGD:1349357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 11854509 SERPINA1 serpin family A member 1 gene DOID:10320 asbestosis ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12368052 11854509 SERPINA1 serpin family A member 1 gene DOID:10591 pre-eclampsia ISO RGD:1349357 D RGD:9068941 20200609 RGD PMID:1852102|REF_RGD_ID:1643155 11854509 SERPINA1 serpin family A member 1 gene DOID:10754 otitis media treatment ISO RGD:9014073 D RGD:9068941 20200609 RGD PMID:2459981|PMID:2473673|REF_RGD_ID:11553864|REF_RGD_ID:11553918 11854509 SERPINA1 serpin family A member 1 gene DOID:10763 hypertension ISO RGD:1349357 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:10353322|REF_RGD_ID:1643147 11854509 SERPINA1 serpin family A member 1 gene DOID:1289 neurodegenerative disease ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659342 11854509 SERPINA1 serpin family A member 1 gene DOID:13372 alpha 1-antitrypsin deficiency ISO RGD:1349357 D RGD:7240710 20180130 OMIM 11854509 SERPINA1 serpin family A member 1 gene DOID:13372 alpha 1-antitrypsin deficiency ISO RGD:1349357 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: AAT deficiency | ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency | ClinVar Annotator: match by term: Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation | ClinVar Annotator: match by term: PI M(HEERLEN) | ClinVar Annotator: match by term: PI NULL(PROCIDA) | ClinVar Annotator: match by term: PI Q0(BELLINGHAM) | ClinVar Annotator: match by term: PI Q0(CARDIFF) | ClinVar Annotator: match by term: PI Q0(GRANITE FALLS) | ClinVar Annotator: match by term: PI Q0(LUDWIGSHAFEN) | ClinVar Annotator: match by term: PI Q0(NEWPORT) | ClinVar Annotator: match by term: PI S(IIYAMA) | ClinVar Annotator: match by term: PI W(BETHESDA) | ClinVar Annotator: match by term: PI Z(BRISTOL) PMID:10194472|PMID:10234508|PMID:1082356|PMID:10878477|PMID:10954248|PMID:11214903|PMID:11334395|PMID:11474657|PMID:11524735|PMID:12034572|PMID:12220457|PMID:12935698|PMID:14522813|PMID:14551891|PMID:14767073|PMID:14985567|PMID:1504305|PMID:15115878|PMID:15454649|PMID:15486938|PMID:1552539|PMID:1569192|PMID:15711957|PMID:15744045|PMID:15949707|PMID:15978931|PMID:15994391|PMID:1608473|PMID:16199547|PMID:16608528|PMID:1730596|PMID:17576681|PMID:17906067|PMID:17964515|PMID:18024524|PMID:18187064|PMID:18294358|PMID:18340647|PMID:18353624|PMID:18414213|PMID:18515255|PMID:18565211|PMID:18566672|PMID:18682522|PMID:1889260|PMID:1905728|PMID:19083091|PMID:19280649|PMID:19398551|PMID:19437508|PMID:19444872|PMID:19654085|PMID:1967187|PMID:1969347|PMID:19738092|PMID:1975477|PMID:19956452|PMID:20301692|PMID:2035534|PMID:20453271|PMID:20981092|PMID:21067581|PMID:21228398|PMID:21457231|PMID:21474916|PMID:21637596|PMID:21637600|PMID:21752289|PMID:2185272|PMID:21960536|PMID:22008137|PMID:22016686|PMID:22078084|PMID:22215832|PMID:2227940|PMID:2240842|PMID:22426792|PMID:2254451|PMID:22723858|PMID:22735536|PMID:22912357|PMID:22912729|PMID:22933512|PMID:22971141|PMID:22975760|PMID:2309708|PMID:2339709|PMID:23484243|PMID:23632999|PMID:23837941|PMID:23858502|PMID:2390072|PMID:23907436|PMID:2394452|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24328305|PMID:24428606|PMID:24518491|PMID:24592811|PMID:24713750|PMID:2481421|PMID:24969485|PMID:25098359|PMID:25181470|PMID:25391508|PMID:2539391|PMID:25425243|PMID:25454901|PMID:25637381|PMID:2567291|PMID:25738741|PMID:25741868|PMID:2575668|PMID:25966443|PMID:2606478|PMID:26141072|PMID:26243289|PMID:26304913|PMID:26310624|PMID:26321041|PMID:2642408|PMID:26604020|PMID:26647313|PMID:26672964|PMID:26771213|PMID:26831755|PMID:2696185|PMID:26987331|PMID:2700304|PMID:27153395|PMID:27246852|PMID:27296815|PMID:27465791|PMID:27535533|PMID:2784123|PMID:2787118|PMID:27959697|PMID:2807278|PMID:28146470|PMID:2831367|PMID:28492532|PMID:2901226|PMID:2904702|PMID:29083408|PMID:29153744|PMID:29232161|PMID:29431110|PMID:29618937|PMID:29644095|PMID:29882371|PMID:2989709|PMID:30068317|PMID:30068662|PMID:301355|PMID:30254761|PMID:3038256|PMID:3040726|PMID:30585791|PMID:30739910|PMID:31028937|PMID:31216405|PMID:31307431|PMID:31447099|PMID:31564432|PMID:31980526|PMID:32087139|PMID:32482783|PMID:3257351|PMID:3262617|PMID:3264419|PMID:32699024|PMID:33144682|PMID:33726816|PMID:34408828|PMID:34408829|PMID:3484754|PMID:3484755|PMID:3484756|PMID:3491072|PMID:3496639|PMID:3500183|PMID:3527273|PMID:3537008|PMID:3875547|PMID:412531|PMID:6093867|PMID:6306478|PMID:6602622|PMID:6604220|PMID:7045697|PMID:7227484|PMID:7706910|PMID:7977369|PMID:7980208|PMID:8182727|PMID:8340361|PMID:8358043|PMID:8364536|PMID:8364590|PMID:8499914|PMID:8520784|PMID:8912354|PMID:8970361|PMID:9041988|PMID:9070606|PMID:9195389|PMID:9459000|PMID:9536098|PMID:9569237|PMID:9635295 11854509 SERPINA1 serpin family A member 1 gene DOID:13372 alpha 1-antitrypsin deficiency treatment ISO RGD:1349357 D RGD:9068941 20200609 RGD PMID:29641323|REF_RGD_ID:14695049 11854509 SERPINA1 serpin family A member 1 gene DOID:13580 cholestasis ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4117022 11854509 SERPINA1 serpin family A member 1 gene DOID:1485 cystic fibrosis ISO RGD:1349357 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:10194472|PMID:1082356|PMID:15711957|PMID:15978931|PMID:15994391|PMID:16608528|PMID:18187064|PMID:18565211|PMID:18566672|PMID:1889260|PMID:19956452|PMID:20301692|PMID:20981092|PMID:22426792|PMID:22933512|PMID:22975760|PMID:23632999|PMID:23837941|PMID:24033266|PMID:24055113|PMID:25454901|PMID:25637381|PMID:2567291|PMID:25741868|PMID:26141072|PMID:26672964|PMID:26831755|PMID:27153395|PMID:27465791|PMID:27535533|PMID:27959697|PMID:28492532|PMID:29232161|PMID:29882371|PMID:301355|PMID:30585791|PMID:31447099|PMID:31980526|PMID:6093867|PMID:6602622|PMID:8970361 11854509 SERPINA1 serpin family A member 1 gene DOID:1525 nodular nonsuppurative panniculitis ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3259592|PMID:6982619 11854509 SERPINA1 serpin family A member 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1349357 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 11854509 SERPINA1 serpin family A member 1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1349357 D RGD:9068941 20200609 RGD PMID:2323846|REF_RGD_ID:2324960 11854509 SERPINA1 serpin family A member 1 gene DOID:2030 anxiety disorder ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659342 11854509 SERPINA1 serpin family A member 1 gene DOID:2349 arteriosclerosis ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12692006 11854509 SERPINA1 serpin family A member 1 gene DOID:2349 arteriosclerosis disease_progression ISO RGD:1349357 D RGD:9068941 20200609 RGD DNA, protein:polymorphism, decreased expression: :p.A213V, 11478A>G, p.E264V, p.E342K (human) PMID:12692006|REF_RGD_ID:1643145 11854509 SERPINA1 serpin family A member 1 gene DOID:2841 asthma ISO RGD:3326 D RGD:9068941 20200609 RGD Fisher rats, shown to exhibit hyperactive airway responses at 14 days of age, had higher transcript and protein levels of Serpina1 than same age Brown Norway rats. PMID:20118217|REF_RGD_ID:5131869 11854509 SERPINA1 serpin family A member 1 gene DOID:2913 acute pancreatitis ISO RGD:1349357 D RGD:9068941 20200609 RGD associated with fatty liver disease; protein:decreased expression:serum: PMID:26634430|REF_RGD_ID:11552763 11854509 SERPINA1 serpin family A member 1 gene DOID:2913 acute pancreatitis ISO RGD:3326 D RGD:9068941 20200609 RGD associated with fatty liver disease; protein:decreased expression:serum: PMID:26634430|REF_RGD_ID:11552763 11854509 SERPINA1 serpin family A member 1 gene DOID:299 adenocarcinoma ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 11854509 SERPINA1 serpin family A member 1 gene DOID:3021 acute kidney failure ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 11854509 SERPINA1 serpin family A member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1349357 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease | ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, severe early-onset PMID:10194472|PMID:1082356|PMID:12034572|PMID:14522813|PMID:15115878|PMID:15454649|PMID:15711957|PMID:15978931|PMID:15994391|PMID:1608473|PMID:16608528|PMID:17964515|PMID:18187064|PMID:18294358|PMID:18340647|PMID:18414213|PMID:18515255|PMID:18565211|PMID:18566672|PMID:18682522|PMID:1889260|PMID:19083091|PMID:19398551|PMID:19444872|PMID:19738092|PMID:19956452|PMID:20301692|PMID:20981092|PMID:21067581|PMID:21228398|PMID:21637600|PMID:21960536|PMID:22426792|PMID:22735536|PMID:22912729|PMID:22933512|PMID:22971141|PMID:22975760|PMID:2339709|PMID:23484243|PMID:23632999|PMID:23837941|PMID:23858502|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24328305|PMID:24428606|PMID:24518491|PMID:24592811|PMID:25181470|PMID:25454901|PMID:25637381|PMID:2567291|PMID:25738741|PMID:25741868|PMID:2575668|PMID:25966443|PMID:26141072|PMID:26243289|PMID:26304913|PMID:26310624|PMID:26647313|PMID:26672964|PMID:26771213|PMID:26831755|PMID:2696185|PMID:26987331|PMID:2700304|PMID:27153395|PMID:27246852|PMID:27465791|PMID:27535533|PMID:27959697|PMID:28146470|PMID:28492532|PMID:2904702|PMID:29083408|PMID:29153744|PMID:29232161|PMID:29431110|PMID:29618937|PMID:29644095|PMID:29882371|PMID:2989709|PMID:30068317|PMID:30068662|PMID:301355|PMID:30254761|PMID:30585791|PMID:30739910|PMID:31028937|PMID:31216405|PMID:31447099|PMID:31564432|PMID:31980526|PMID:32087139|PMID:3264419|PMID:32699024|PMID:33144682|PMID:33726816|PMID:34408828|PMID:34408829|PMID:3484754|PMID:3500183|PMID:3537008|PMID:3875547|PMID:6093867|PMID:6306478|PMID:6602622|PMID:7045697|PMID:7227484|PMID:8970361|PMID:9041988|PMID:9195389|PMID:9569237 11854509 SERPINA1 serpin family A member 1 gene DOID:3312 bipolar disorder ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659342 11854509 SERPINA1 serpin family A member 1 gene DOID:3393 coronary artery disease ISO RGD:1349357 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:7832094|REF_RGD_ID:1643149 11854509 SERPINA1 serpin family A member 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1349357 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas PMID:12488200|REF_RGD_ID:2317811 11854509 SERPINA1 serpin family A member 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:72955 11854509 SERPINA1 serpin family A member 1 gene DOID:409 liver disease ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17006946|PMID:17659342|PMID:3485248|PMID:4117996|PMID:5095241|PMID:6600583 11854509 SERPINA1 serpin family A member 1 gene DOID:409 liver disease ISO RGD:1349357 D RGD:9068941 20200609 RGD PMID:19738092|REF_RGD_ID:4892128 11854509 SERPINA1 serpin family A member 1 gene DOID:409 liver disease susceptibility ISO RGD:1349357 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.Glu342Lys(human) PMID:19961268|REF_RGD_ID:14695056 11854509 SERPINA1 serpin family A member 1 gene DOID:446 primary hyperaldosteronism ISO RGD:3326 D RGD:9068941 20200609 RGD PMID:15475529|REF_RGD_ID:1643158 11854509 SERPINA1 serpin family A member 1 gene DOID:4989 pancreatitis ISO RGD:3326 D RGD:9068941 20200609 RGD PMID:12770935|REF_RGD_ID:1641805 11854509 SERPINA1 serpin family A member 1 gene DOID:5082 liver cirrhosis ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20511674|PMID:25579632|PMID:3485248 11854509 SERPINA1 serpin family A member 1 gene DOID:5082 liver cirrhosis ISO RGD:1349357 D RGD:9068941 20200609 RGD PMID:20522742|REF_RGD_ID:14695525 11854509 SERPINA1 serpin family A member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17448989 11854509 SERPINA1 serpin family A member 1 gene DOID:526 human immunodeficiency virus infectious disease susceptibility ISO RGD:1349357 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.Glu264Val(human) PMID:24122823|REF_RGD_ID:14695057 11854509 SERPINA1 serpin family A member 1 gene DOID:576 proteinuria ISO RGD:3326 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:11239198|REF_RGD_ID:1625796 11854509 SERPINA1 serpin family A member 1 gene DOID:630 genetic disease ISO RGD:1349357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10194472|PMID:10234508|PMID:1082356|PMID:12034572|PMID:14522813|PMID:14551891|PMID:14985567|PMID:15115878|PMID:15454649|PMID:1552539|PMID:15711957|PMID:15978931|PMID:15994391|PMID:1608473|PMID:16608528|PMID:17906067|PMID:17964515|PMID:18024524|PMID:18187064|PMID:18294358|PMID:18340647|PMID:18414213|PMID:18515255|PMID:18565211|PMID:18566672|PMID:18682522|PMID:1889260|PMID:19083091|PMID:19398551|PMID:19444872|PMID:19738092|PMID:19956452|PMID:20301692|PMID:2035534|PMID:20981092|PMID:21067581|PMID:21228398|PMID:21637596|PMID:21637600|PMID:21960536|PMID:22008137|PMID:22078084|PMID:22426792|PMID:22735536|PMID:22912729|PMID:22933512|PMID:22971141|PMID:22975760|PMID:2339709|PMID:23484243|PMID:23632999|PMID:23837941|PMID:23858502|PMID:2394452|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24328305|PMID:24428606|PMID:24518491|PMID:24592811|PMID:24713750|PMID:24969485|PMID:25098359|PMID:25181470|PMID:25391508|PMID:25454901|PMID:25637381|PMID:2567291|PMID:25738741|PMID:25741868|PMID:2575668|PMID:25966443|PMID:26141072|PMID:26243289|PMID:26304913|PMID:26310624|PMID:26321041|PMID:26647313|PMID:26672964|PMID:26771213|PMID:26831755|PMID:2696185|PMID:26987331|PMID:2700304|PMID:27153395|PMID:27246852|PMID:27296815|PMID:27465791|PMID:27535533|PMID:2784123|PMID:27959697|PMID:28146470|PMID:28492532|PMID:2901226|PMID:2904702|PMID:29083408|PMID:29153744|PMID:29232161|PMID:29431110|PMID:29618937|PMID:29644095|PMID:29882371|PMID:2989709|PMID:30068317|PMID:30068662|PMID:301355|PMID:30254761|PMID:3038256|PMID:30585791|PMID:30739910|PMID:31028937|PMID:31216405|PMID:31447099|PMID:31564432|PMID:31980526|PMID:32087139|PMID:3264419|PMID:32699024|PMID:33144682|PMID:33726816|PMID:34408828|PMID:34408829|PMID:3484754|PMID:3491072|PMID:3500183|PMID:3537008|PMID:3875547|PMID:6093867|PMID:6306478|PMID:6602622|PMID:7045697|PMID:7227484|PMID:8912354|PMID:8970361|PMID:9041988|PMID:9195389|PMID:9569237 11854509 SERPINA1 serpin family A member 1 gene DOID:6432 pulmonary hypertension ISO RGD:1349357 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17444595|REF_RGD_ID:1643144 11854509 SERPINA1 serpin family A member 1 gene DOID:6432 pulmonary hypertension ISO RGD:3326 D RGD:9068941 20200609 RGD PMID:1836309|REF_RGD_ID:1643154 11854509 SERPINA1 serpin family A member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284|PMID:6258829 11854509 SERPINA1 serpin family A member 1 gene DOID:8398 osteoarthritis ISO RGD:1349357 D RGD:9068941 20200609 RGD PMID:20434574|REF_RGD_ID:2324964 11854509 SERPINA1 serpin family A member 1 gene DOID:8398 osteoarthritis ISO RGD:3326 D RGD:9068941 20200609 RGD PMID:20434574|REF_RGD_ID:2324964 11854509 SERPINA1 serpin family A member 1 gene DOID:850 lung disease ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659342 11854509 SERPINA1 serpin family A member 1 gene DOID:865 vasculitis ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1684994 11854509 SERPINA1 serpin family A member 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 11854509 SERPINA1 serpin family A member 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1349357 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.321C>A(human) PMID:28947017|REF_RGD_ID:14695046 11854509 SERPINA1 serpin family A member 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 11854509 SERPINA1 serpin family A member 1 gene DOID:9001205 Experimental Autoimmune Orchitis ISO RGD:3326 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16092147|REF_RGD_ID:1624236 11854509 SERPINA1 serpin family A member 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:3326 D RGD:9068941 20200609 RGD PMID:10569800|REF_RGD_ID:1626391 11854509 SERPINA1 serpin family A member 1 gene DOID:9002884 Emphysema ISO RGD:1349357 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PI I | ClinVar Annotator: match by term: PI M(MINERAL SPRINGS) | ClinVar Annotator: match by term: PI M(PROCIDA) | ClinVar Annotator: match by term: PI S PMID:10194472|PMID:1082356|PMID:14767073|PMID:14985567|PMID:1504305|PMID:15711957|PMID:15978931|PMID:15994391|PMID:16608528|PMID:17964515|PMID:18024524|PMID:18187064|PMID:18515255|PMID:18565211|PMID:18566672|PMID:1889260|PMID:1967187|PMID:19956452|PMID:20301692|PMID:20981092|PMID:21752289|PMID:22426792|PMID:22912357|PMID:22933512|PMID:22975760|PMID:23632999|PMID:23837941|PMID:24033266|PMID:24055113|PMID:24713750|PMID:25391508|PMID:25454901|PMID:25637381|PMID:2567291|PMID:25741868|PMID:2606478|PMID:26141072|PMID:26647313|PMID:26672964|PMID:26831755|PMID:2696185|PMID:26987331|PMID:27153395|PMID:27296815|PMID:27465791|PMID:27535533|PMID:27959697|PMID:28492532|PMID:29232161|PMID:29882371|PMID:301355|PMID:30585791|PMID:31447099|PMID:31980526|PMID:32482783|PMID:3262617|PMID:3496639|PMID:6093867|PMID:6602622|PMID:8970361|PMID:9635295 11854509 SERPINA1 serpin family A member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349357 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:12034572|PMID:14522813|PMID:15115878|PMID:15454649|PMID:15978931|PMID:1608473|PMID:17964515|PMID:18294358|PMID:18340647|PMID:18414213|PMID:18515255|PMID:18682522|PMID:1889260|PMID:19083091|PMID:19398551|PMID:19444872|PMID:19738092|PMID:20301692|PMID:20981092|PMID:21067581|PMID:21228398|PMID:21637600|PMID:21960536|PMID:22426792|PMID:22735536|PMID:22912729|PMID:22933512|PMID:22971141|PMID:22975760|PMID:2339709|PMID:23484243|PMID:23632999|PMID:23837941|PMID:23858502|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24328305|PMID:24428606|PMID:24518491|PMID:24592811|PMID:25181470|PMID:25637381|PMID:25738741|PMID:25741868|PMID:2575668|PMID:25966443|PMID:26243289|PMID:26304913|PMID:26310624|PMID:26647313|PMID:26672964|PMID:26771213|PMID:26831755|PMID:2696185|PMID:26987331|PMID:2700304|PMID:27153395|PMID:27246852|PMID:27535533|PMID:27959697|PMID:28146470|PMID:28492532|PMID:2904702|PMID:29083408|PMID:29153744|PMID:29431110|PMID:29618937|PMID:29644095|PMID:29882371|PMID:2989709|PMID:30068317|PMID:30068662|PMID:30254761|PMID:30739910|PMID:31028937|PMID:31216405|PMID:31447099|PMID:31564432|PMID:31980526|PMID:32087139|PMID:3264419|PMID:33144682|PMID:33726816|PMID:3484754|PMID:3500183|PMID:3537008|PMID:3875547|PMID:6306478|PMID:7045697|PMID:7227484|PMID:8970361|PMID:9041988|PMID:9195389|PMID:9569237 11854509 SERPINA1 serpin family A member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349357 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:12034572|PMID:14522813|PMID:15115878|PMID:15454649|PMID:15978931|PMID:1608473|PMID:17964515|PMID:18294358|PMID:18340647|PMID:18414213|PMID:18515255|PMID:18682522|PMID:1889260|PMID:19083091|PMID:19398551|PMID:19444872|PMID:19738092|PMID:20301692|PMID:20981092|PMID:21067581|PMID:21228398|PMID:21637600|PMID:21960536|PMID:22426792|PMID:22735536|PMID:22912729|PMID:22933512|PMID:22971141|PMID:22975760|PMID:2339709|PMID:23484243|PMID:23632999|PMID:23837941|PMID:23858502|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24328305|PMID:24428606|PMID:24518491|PMID:24592811|PMID:25181470|PMID:25637381|PMID:25738741|PMID:25741868|PMID:2575668|PMID:25966443|PMID:26243289|PMID:26304913|PMID:26310624|PMID:26647313|PMID:26672964|PMID:26771213|PMID:26831755|PMID:2696185|PMID:26987331|PMID:2700304|PMID:27153395|PMID:27246852|PMID:27535533|PMID:27959697|PMID:28146470|PMID:28492532|PMID:2904702|PMID:29083408|PMID:29153744|PMID:29431110|PMID:29618937|PMID:29644095|PMID:29882371|PMID:2989709|PMID:30068317|PMID:30068662|PMID:30254761|PMID:30739910|PMID:31028937|PMID:31216405|PMID:31447099|PMID:31564432|PMID:31980526|PMID:32087139|PMID:3264419|PMID:32699024|PMID:33144682|PMID:33726816|PMID:34408828|PMID:34408829|PMID:3484754|PMID:3500183|PMID:3537008|PMID:3875547|PMID:6306478|PMID:7045697|PMID:7227484|PMID:8970361|PMID:9041988|PMID:9195389|PMID:9569237 11854509 SERPINA1 serpin family A member 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17902193 11854509 SERPINA1 serpin family A member 1 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 11854509 SERPINA1 serpin family A member 1 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:1349357 D RGD:9068941 20200609 RGD PMID:28235038|REF_RGD_ID:14695051 11854509 SERPINA1 serpin family A member 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 11854509 SERPINA1 serpin family A member 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1349357 D RGD:9068941 20200609 RGD associated with Aortic Aneurysm, Abdominal;DNA:polymorphism: :p.E342K (human) PMID:10063411|REF_RGD_ID:1643148 11854509 SERPINA1 serpin family A member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:3326 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:11140575|REF_RGD_ID:1643168 11854509 SERPINA1 serpin family A member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:1349357 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E264V(human) PMID:20170533|REF_RGD_ID:14695048 11854509 SERPINA1 serpin family A member 1 gene DOID:9007692 Insulin Resistance ISO RGD:1349357 D RGD:9068941 20200609 RGD PMID:16752182|REF_RGD_ID:1601202 11854509 SERPINA1 serpin family A member 1 gene DOID:9007730 Burns ISO RGD:3326 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12509927|REF_RGD_ID:1643164 11854509 SERPINA1 serpin family A member 1 gene DOID:9008217 Hemorrhage ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:412531 11854509 SERPINA1 serpin family A member 1 gene DOID:9008821 Otitis Media with Effusion ISO RGD:9014073 D RGD:9068941 20200609 RGD PMID:2454602|REF_RGD_ID:11560528 11854509 SERPINA1 serpin family A member 1 gene DOID:9256 colorectal cancer ISO RGD:1349357 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:24886427|REF_RGD_ID:14695524 11854509 SERPINA1 serpin family A member 1 gene DOID:9563 bronchiectasis ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7785020 11854509 SERPINA1 serpin family A member 1 gene DOID:9675 pulmonary emphysema ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3485249 11854509 SERPINA1 serpin family A member 1 gene DOID:9675 pulmonary emphysema ISO RGD:1349357 D RGD:9068941 20200609 RGD PMID:19941265|PMID:21030517|REF_RGD_ID:4892125|REF_RGD_ID:4892126 11854509 SERPINA1 serpin family A member 1 gene DOID:9993 hypoglycemia ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659342 11854534 PGAP4 post-GPI attachment to proteins GalNAc transferase 4 gene DOID:1059 intellectual disability ISO RGD:1316281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11854534 PGAP4 post-GPI attachment to proteins GalNAc transferase 4 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:1316281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:18541450|PMID:28492532 11854534 PGAP4 post-GPI attachment to proteins GalNAc transferase 4 gene DOID:630 genetic disease ISO RGD:1316281 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854534 PGAP4 post-GPI attachment to proteins GalNAc transferase 4 gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:1316281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose intolerance PMID:18541450|PMID:28492532 11854568 ZNF93 zinc finger protein 93 gene DOID:630 genetic disease ISO RGD:1345315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854582 ADAT3 adenosine deaminase tRNA specific 3 gene DOID:0081099 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies ISO RGD:1603369 D RGD:7240710 20180130 OMIM 11854582 ADAT3 adenosine deaminase tRNA specific 3 gene DOID:0081099 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies ISO RGD:1603369 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability-strabismus syndrome PMID:23620220|PMID:25558065|PMID:25741868|PMID:26842963|PMID:29796286|PMID:30296593|PMID:32214227|PMID:32860008 11854582 ADAT3 adenosine deaminase tRNA specific 3 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1603369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 11854582 ADAT3 adenosine deaminase tRNA specific 3 gene DOID:1059 intellectual disability ISO RGD:1603369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11854582 ADAT3 adenosine deaminase tRNA specific 3 gene DOID:10907 microcephaly ISO RGD:1603369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11854582 ADAT3 adenosine deaminase tRNA specific 3 gene DOID:5339 cyclic hematopoiesis ISO RGD:1603369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11854582 ADAT3 adenosine deaminase tRNA specific 3 gene DOID:630 genetic disease ISO RGD:1603369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11854582 ADAT3 adenosine deaminase tRNA specific 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11854622 ACTL9 actin like 9 gene DOID:0112279 spermatogenic failure 53 ISO RGD:1602048 D RGD:7240710 20210421 OMIM 11854622 ACTL9 actin like 9 gene DOID:0112279 spermatogenic failure 53 ISO RGD:1602048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 53 PMID:33626338 11854622 ACTL9 actin like 9 gene DOID:12849 autistic disorder ISO RGD:1602048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11854622 ACTL9 actin like 9 gene DOID:3310 atopic dermatitis ISO RGD:1602048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23042114 11854622 ACTL9 actin like 9 gene DOID:630 genetic disease ISO RGD:1602048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854630 CBX8 chromobox 8 gene DOID:3068 glioblastoma ISO RGD:1351003 D RGD:9068941 20200609 RGD mRNA:increased expression:astrocyte: PMID:24260522|REF_RGD_ID:9587354 11854630 CBX8 chromobox 8 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1351003 D RGD:9068941 20200609 RGD mRNA:increased expression:esophagus: PMID:25197352|REF_RGD_ID:9587436 11854630 CBX8 chromobox 8 gene DOID:630 genetic disease ISO RGD:1351003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854630 CBX8 chromobox 8 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1351003 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 11854642 PLXDC1 plexin domain containing 1 gene DOID:630 genetic disease ISO RGD:1352937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854642 PLXDC1 plexin domain containing 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1352937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11854671 FBRSL1 fibrosin like 1 gene DOID:0060224 atrial fibrillation ISO RGD:2303695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11854671 FBRSL1 fibrosin like 1 gene DOID:630 genetic disease ISO RGD:2303695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854671 FBRSL1 fibrosin like 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:2303695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11854671 FBRSL1 fibrosin like 1 gene DOID:9256 colorectal cancer ISO RGD:2303695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 11854693 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:0080100 congenital myopathy ISO RGD:732165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Batten-Turner congenital myopathy PMID:25741868 11854693 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:732165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal hypotonia improving with age PMID:25326635|PMID:25741868 11854693 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:0081295 essential tremor 6 ISO RGD:732165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor, hereditary essential, 6 11854693 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:0110682 congenital myasthenic syndrome 16 ISO RGD:732165 D RGD:7240710 20180130 OMIM 11854693 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:0110682 congenital myasthenic syndrome 16 ISO RGD:732165 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 16 | ClinVar Annotator: match by term: Congenital myasthenic syndrome, acetazolamide-responsive PMID:10206477|PMID:10218481|PMID:11744749|PMID:12766226|PMID:12872329|PMID:12898257|PMID:1310898|PMID:14518676|PMID:14617673|PMID:15534250|PMID:15596759|PMID:15774523|PMID:15790667|PMID:17334961|PMID:17576681|PMID:18046642|PMID:18166706|PMID:18337100|PMID:18337730|PMID:18414213|PMID:19052238|PMID:19065518|PMID:19201608|PMID:19225109|PMID:19770477|PMID:19840739|PMID:20076800|PMID:20445432|PMID:20522878|PMID:20681998|PMID:20981092|PMID:21220685|PMID:22653516|PMID:22926674|PMID:23516313|PMID:23589580|PMID:23771340|PMID:23810313|PMID:23884711|PMID:24682880|PMID:25326635|PMID:25483584|PMID:25707578|PMID:25724373|PMID:25741868|PMID:25839108|PMID:26220970|PMID:26423924|PMID:26467025|PMID:26659129|PMID:26700687|PMID:26834636|PMID:27199537|PMID:27415035|PMID:27714768|PMID:27858759|PMID:28325641|PMID:28492532|PMID:29605429|PMID:29606556|PMID:29790872|PMID:30038349|PMID:30390395|PMID:30611854|PMID:30647473|PMID:31567646|PMID:32026975|PMID:32276507|PMID:32528171|PMID:32533946|PMID:32670189|PMID:32801145|PMID:32849172|PMID:33146414|PMID:33325393|PMID:35037686|PMID:7533571|PMID:7695243|PMID:7809121|PMID:8044656|PMID:8583225|PMID:8740371|PMID:8910215|PMID:9130156|PMID:9266738|PMID:9392583|PMID:9536098 11854693 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:0110986 Joubert Syndrome 17 ISO RGD:732165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 17 PMID:18046642|PMID:20981092|PMID:25741868|PMID:28492532|PMID:7695243|PMID:9266738 11854693 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:732165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 11854693 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:0111538 paramyotonia congenita of Von Eulenburg ISO RGD:732165 D RGD:7240710 20180425 OMIM 11854693 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:0111538 paramyotonia congenita of Von Eulenburg ISO RGD:732165 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Paramyotonia congenita of Von Eulenburg | ClinVar Annotator: match by term: Von Eulenburg paramyotonia congenita PMID:10206477|PMID:10218481|PMID:10227633|PMID:10369308|PMID:10727489|PMID:11744749|PMID:11971097|PMID:12483017|PMID:12552059|PMID:12562902|PMID:12872329|PMID:12898257|PMID:1310898|PMID:1316765|PMID:14518676|PMID:14617673|PMID:14635102|PMID:15318338|PMID:15389891|PMID:15534250|PMID:15596759|PMID:15774523|PMID:15790667|PMID:16392038|PMID:16624558|PMID:16786525|PMID:16801039|PMID:16832098|PMID:17334961|PMID:17576681|PMID:17823953|PMID:17998485|PMID:18033047|PMID:18046642|PMID:18166706|PMID:18337100|PMID:18337730|PMID:18414213|PMID:18690054|PMID:19015483|PMID:19015492|PMID:19052238|PMID:19201608|PMID:19770477|PMID:19840739|PMID:20076800|PMID:20301669|PMID:20445432|PMID:20522878|PMID:20681998|PMID:20713951|PMID:20981092|PMID:21220685|PMID:21317558|PMID:21490317|PMID:21520339|PMID:22094069|PMID:22250216|PMID:22257501|PMID:22507243|PMID:22643347|PMID:22653516|PMID:22926674|PMID:23417379|PMID:23589580|PMID:23771340|PMID:23810313|PMID:23884711|PMID:23958773|PMID:24324661|PMID:24939454|PMID:25088311|PMID:25311598|PMID:25483584|PMID:25724373|PMID:25741868|PMID:25755818|PMID:25839108|PMID:26036855|PMID:26080010|PMID:26220970|PMID:26423924|PMID:26467025|PMID:26484179|PMID:2649440|PMID:26494408|PMID:26834636|PMID:26885337|PMID:26944947|PMID:27199537|PMID:27415035|PMID:27486940|PMID:27714768|PMID:27858759|PMID:28024841|PMID:28150151|PMID:28325641|PMID:28492532|PMID:28779239|PMID:29605429|PMID:29606556|PMID:29774303|PMID:29790872|PMID:30028520|PMID:30038349|PMID:30390395|PMID:30611854|PMID:30647473|PMID:31127727|PMID:31567646|PMID:32026975|PMID:32276507|PMID:32528171|PMID:32660787|PMID:32670189|PMID:32849172|PMID:33263785|PMID:33325393|PMID:7473241|PMID:7533571|PMID:7676326|PMID:7695243|PMID:7809121|PMID:7965854|PMID:7980103|PMID:8005599|PMID:8044656|PMID:8110459|PMID:8242056|PMID:8308722|PMID:8388676|PMID:8580427|PMID:8583225|PMID:8740371|PMID:8833340|PMID:8902732|PMID:8910215|PMID:9130156|PMID:9266738|PMID:9392583|PMID:9508833|PMID:9536098|PMID:9660885|PMID:9771789 11854693 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:0112103 Sotos syndrome 1 ISO RGD:732165 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:10366610|PMID:11309455|PMID:12933953|PMID:15534250|PMID:15583983|PMID:15642860|PMID:1659948|PMID:16870577|PMID:17395131|PMID:18166706|PMID:19077043|PMID:2173143|PMID:22253644|PMID:23473731|PMID:25741868|PMID:26256659|PMID:26467025|PMID:28492532|PMID:28662944|PMID:30172468|PMID:30647473|PMID:30931713|PMID:34008892|PMID:7809121|PMID:8044656|PMID:8388676|PMID:8985730|PMID:9886942 11854693 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:10907 microcephaly ISO RGD:732165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11854693 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:732165 D RGD:7240710 20180130 OMIM 11854693 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:732165 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adynamia episodica hereditaria with or without myotonia | ClinVar Annotator: match by term: Gamstorp disease | ClinVar Annotator: match by term: Gamstorp episodic adynamy | ClinVar Annotator: match by term: Hyperkalemic periodic paralysis | ClinVar Annotator: match by term: Paramyotonia congenita/hyperkalemic periodic paralysis | ClinVar Annotator: match by term: SODIUM CHANNEL MUSCLE DISEASE PMID:10200418|PMID:10206477|PMID:10218481|PMID:10227633|PMID:10366610|PMID:10381583|PMID:10599760|PMID:10851391|PMID:10944223|PMID:11102465|PMID:11309455|PMID:11422459|PMID:11558801|PMID:11591859|PMID:11723275|PMID:11744749|PMID:11757950|PMID:11912116|PMID:11971097|PMID:12483017|PMID:12552059|PMID:12562902|PMID:12766226|PMID:12872329|PMID:12898257|PMID:12933953|PMID:1310898|PMID:1316765|PMID:1338909|PMID:14504341|PMID:14518676|PMID:14557559|PMID:14617673|PMID:14635102|PMID:15318338|PMID:15389891|PMID:15482957|PMID:15534250|PMID:15557532|PMID:15583983|PMID:15596759|PMID:15642860|PMID:15645704|PMID:15774523|PMID:15790667|PMID:16199547|PMID:16392038|PMID:1659668|PMID:1659948|PMID:16624558|PMID:16786525|PMID:16801039|PMID:16832098|PMID:16870577|PMID:16890191|PMID:17212350|PMID:17330043|PMID:17334961|PMID:17395131|PMID:17576681|PMID:17823953|PMID:17898326|PMID:17998485|PMID:18033047|PMID:18041053|PMID:18046642|PMID:18162704|PMID:18166706|PMID:18203179|PMID:18317596|PMID:18337100|PMID:18337730|PMID:18414213|PMID:18690054|PMID:18824591|PMID:19015492|PMID:19052238|PMID:19065518|PMID:19077043|PMID:19118277|PMID:1918277|PMID:19201608|PMID:19221125|PMID:19225109|PMID:19290024|PMID:19770477|PMID:19840739|PMID:19876661|PMID:19882638|PMID:20038812|PMID:20076800|PMID:20301669|PMID:20445432|PMID:20495927|PMID:20522878|PMID:20660662|PMID:20681998|PMID:20713951|PMID:20981092|PMID:21189962|PMID:21220685|PMID:21221019|PMID:21317558|PMID:21387378|PMID:21404612|PMID:21490317|PMID:21520339|PMID:21664816|PMID:21665479|PMID:21665951|PMID:21698652|PMID:21708955|PMID:2173143|PMID:21841462|PMID:21881211|PMID:22094069|PMID:22106717|PMID:22250216|PMID:22253644|PMID:22253645|PMID:22257501|PMID:22507243|PMID:22643347|PMID:22653516|PMID:22914841|PMID:22926674|PMID:23019082|PMID:23417379|PMID:23473731|PMID:23516313|PMID:23589580|PMID:23771340|PMID:23801527|PMID:23810313|PMID:23884711|PMID:23958773|PMID:24324661|PMID:24549961|PMID:24682880|PMID:24714718|PMID:24778431|PMID:24939454|PMID:24943082|PMID:25024265|PMID:25088311|PMID:25213595|PMID:25311598|PMID:25326635|PMID:25348630|PMID:25454733|PMID:25483584|PMID:25660391|PMID:25707578|PMID:25724373|PMID:25735906|PMID:25741868|PMID:25755818|PMID:25839108|PMID:25961944|PMID:26036855|PMID:26080010|PMID:26220970|PMID:26252573|PMID:26256659|PMID:26423924|PMID:26427606|PMID:26467025|PMID:26484179|PMID:2649440|PMID:26494408|PMID:26633542|PMID:26659129|PMID:26700687|PMID:26834636|PMID:26865514|PMID:26885337|PMID:26944947|PMID:26986070|PMID:27060299|PMID:27104891|PMID:27164696|PMID:27199537|PMID:27415035|PMID:27486940|PMID:27714768|PMID:27858759|PMID:27922499|PMID:28024841|PMID:28150151|PMID:28262468|PMID:28325641|PMID:28330959|PMID:28492532|PMID:28662944|PMID:28779239|PMID:28877545|PMID:28940424|PMID:29111379|PMID:29391559|PMID:29419865|PMID:29451154|PMID:29605429|PMID:29606556|PMID:29774303|PMID:29790872|PMID:29930533|PMID:29946067|PMID:29991727|PMID:30028520|PMID:30038349|PMID:30172468|PMID:30283817|PMID:30390395|PMID:30611854|PMID:30647473|PMID:30824560|PMID:30931713|PMID:31068157|PMID:31127727|PMID:31492720|PMID:31567646|PMID:31609695|PMID:31732390|PMID:31772215|PMID:32026975|PMID:32066100|PMID:32117035|PMID:32129495|PMID:32276507|PMID:32411069|PMID:32528171|PMID:32533946|PMID:32594687|PMID:32660787|PMID:32670189|PMID:32801145|PMID:32849172|PMID:33123387|PMID:33146414|PMID:33263785|PMID:33325393|PMID:33343696|PMID:33573884|PMID:33670307|PMID:33726816|PMID:33965302|PMID:34008892|PMID:34378097|PMID:34418069|PMID:34608571|PMID:35037686|PMID:7473241|PMID:7533571|PMID:7676326|PMID:7689382|PMID:7695243|PMID:7767090|PMID:7809121|PMID:7965854|PMID:7980103|PMID:8005599|PMID:8044656|PMID:8058156|PMID:8110459|PMID:8242056|PMID:8308722|PMID:8382500|PMID:8388676|PMID:8542048|PMID:8580427|PMID:8583225|PMID:8619545|PMID:8740371|PMID:8833340|PMID:8902732|PMID:8910215|PMID:8985730|PMID:9130156|PMID:9131651|PMID:9266738|PMID:9339683|PMID:9392583|PMID:9508833|PMID:9536098|PMID:9660885|PMID:9771789|PMID:9886942 11854693 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:14452 hypokalemic periodic paralysis ISO RGD:732165 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: HypoPP | ClinVar Annotator: match by term: Hypokalemic periodic paralysis PMID:10206477|PMID:10218481|PMID:11744749|PMID:12872329|PMID:1310898|PMID:14518676|PMID:14617673|PMID:15790667|PMID:17334961|PMID:17576681|PMID:18166706|PMID:18337100|PMID:18337730|PMID:19770477|PMID:19840739|PMID:20445432|PMID:21220685|PMID:22653516|PMID:23589580|PMID:23771340|PMID:23810313|PMID:25483584|PMID:25724373|PMID:25741868|PMID:25839108|PMID:26467025|PMID:26834636|PMID:27199537|PMID:27415035|PMID:27922499|PMID:28325641|PMID:28492532|PMID:29391559|PMID:29790872|PMID:29946067|PMID:30611854|PMID:30647473|PMID:31567646|PMID:32026975|PMID:32276507|PMID:32849172|PMID:7533571|PMID:7809121|PMID:8044656|PMID:8583225|PMID:8740371|PMID:8910215|PMID:9130156|PMID:9392583|PMID:9536098 11854693 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:2106 myotonia congenita ISO RGD:732165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1316765 11854693 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:2234 focal epilepsy ISO RGD:732165 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:11723275|PMID:1338909|PMID:20076800|PMID:22926674|PMID:25741868|PMID:26467025|PMID:28330959|PMID:28492532|PMID:32849172|PMID:34418069|PMID:7809121 11854693 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:3635 congenital myasthenic syndrome ISO RGD:732165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:12766226|PMID:25741868|PMID:26659129|PMID:28492532 11854693 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:423 myopathy ISO RGD:732165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:15596759|PMID:18046642|PMID:19052238|PMID:19065518|PMID:19201608|PMID:19225109|PMID:22926674|PMID:23516313|PMID:24682880|PMID:25326635|PMID:25741868|PMID:25839108|PMID:26467025|PMID:28492532 11854693 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:450 myotonic disease ISO RGD:732165 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Paramyotonia congenita/myotonia congenita PMID:10682917|PMID:11744749|PMID:1338909|PMID:23771340|PMID:25741868|PMID:26467025|PMID:7980103|PMID:9618291|PMID:9660885 11854693 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:630 genetic disease ISO RGD:732165 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10851391|PMID:11723275|PMID:1338909|PMID:14557559|PMID:17898326|PMID:18337100|PMID:18337730|PMID:20076800|PMID:21221019|PMID:22926674|PMID:25454733|PMID:25741868|PMID:26467025|PMID:26633542|PMID:26700687|PMID:26986070|PMID:27164696|PMID:28330959|PMID:28492532|PMID:29451154|PMID:29606556|PMID:32849172|PMID:34418069|PMID:7809121 11854693 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:9000884 Rhabdomyolysis ISO RGD:732165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:12562902|PMID:1316765|PMID:18166706|PMID:18337730|PMID:22507243|PMID:25741868|PMID:26467025|PMID:27415035|PMID:28492532|PMID:28779239|PMID:7676326|PMID:7809121|PMID:8005599|PMID:8110459 11854693 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:9001333 Hypokalemic Periodic Paralysis, Type 2 ISO RGD:732165 D RGD:7240710 20180130 OMIM 11854693 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:9001333 Hypokalemic Periodic Paralysis, Type 2 ISO RGD:732165 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 2 PMID:10206477|PMID:10218481|PMID:10366610|PMID:10599760|PMID:10851391|PMID:10944223|PMID:11102465|PMID:11309455|PMID:11558801|PMID:11591859|PMID:11744749|PMID:11912116|PMID:12872329|PMID:12898257|PMID:12933953|PMID:1310898|PMID:14504341|PMID:14518676|PMID:14557559|PMID:14617673|PMID:15482957|PMID:15534250|PMID:15557532|PMID:15583983|PMID:15596759|PMID:15642860|PMID:15645704|PMID:15774523|PMID:15790667|PMID:1659948|PMID:16624558|PMID:16870577|PMID:16890191|PMID:17330043|PMID:17334961|PMID:17395131|PMID:17576681|PMID:17898326|PMID:18041053|PMID:18046642|PMID:18162704|PMID:18166706|PMID:18337100|PMID:18337730|PMID:18414213|PMID:18824591|PMID:19077043|PMID:19118277|PMID:1918277|PMID:19225109|PMID:19770477|PMID:19840739|PMID:19882638|PMID:20445432|PMID:20522878|PMID:20660662|PMID:20681998|PMID:20981092|PMID:21189962|PMID:21220685|PMID:21221019|PMID:21490317|PMID:21665951|PMID:2173143|PMID:21841462|PMID:21881211|PMID:22253644|PMID:22253645|PMID:22653516|PMID:23019082|PMID:23473731|PMID:23516313|PMID:23589580|PMID:23771340|PMID:23810313|PMID:23884711|PMID:24549961|PMID:25024265|PMID:25213595|PMID:25454733|PMID:25483584|PMID:25724373|PMID:25741868|PMID:25755818|PMID:25839108|PMID:26220970|PMID:26252573|PMID:26256659|PMID:26423924|PMID:26467025|PMID:26834636|PMID:26986070|PMID:27164696|PMID:27199537|PMID:27415035|PMID:27714768|PMID:27858759|PMID:28325641|PMID:28492532|PMID:28662944|PMID:29419865|PMID:29451154|PMID:29605429|PMID:29606556|PMID:29790872|PMID:29991727|PMID:30038349|PMID:30172468|PMID:30390395|PMID:30611854|PMID:30647473|PMID:30931713|PMID:31567646|PMID:31772215|PMID:32026975|PMID:32066100|PMID:32276507|PMID:32528171|PMID:32660787|PMID:32670189|PMID:32849172|PMID:33325393|PMID:34008892|PMID:7533571|PMID:7695243|PMID:7809121|PMID:7965854|PMID:8044656|PMID:8242056|PMID:8388676|PMID:8583225|PMID:8740371|PMID:8910215|PMID:8985730|PMID:9130156|PMID:9266738|PMID:9392583|PMID:9536098|PMID:9771789|PMID:9886942 11854693 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:732165 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:10206477|PMID:10218481|PMID:10366610|PMID:10944223|PMID:11309455|PMID:11558801|PMID:11723275|PMID:11744749|PMID:11912116|PMID:12483017|PMID:12552059|PMID:12562902|PMID:12872329|PMID:12898257|PMID:12933953|PMID:1310898|PMID:1316765|PMID:1338909|PMID:14504341|PMID:14518676|PMID:14617673|PMID:14635102|PMID:15318338|PMID:15482957|PMID:15534250|PMID:15583983|PMID:15596759|PMID:15642860|PMID:15774523|PMID:15790667|PMID:16392038|PMID:1659668|PMID:1659948|PMID:16801039|PMID:16832098|PMID:16870577|PMID:17330043|PMID:17334961|PMID:17395131|PMID:17576681|PMID:18033047|PMID:18046642|PMID:18162704|PMID:18166706|PMID:18317596|PMID:18337100|PMID:18337730|PMID:18824591|PMID:19077043|PMID:19118277|PMID:1918277|PMID:19225109|PMID:19290024|PMID:19770477|PMID:19840739|PMID:20076800|PMID:20301669|PMID:20445432|PMID:20660662|PMID:20713951|PMID:20981092|PMID:21189962|PMID:21220685|PMID:21317558|PMID:21387378|PMID:21404612|PMID:21490317|PMID:21520339|PMID:21665479|PMID:21665951|PMID:21708955|PMID:2173143|PMID:21841462|PMID:22253644|PMID:22253645|PMID:22653516|PMID:22926674|PMID:23019082|PMID:23417379|PMID:23473731|PMID:23516313|PMID:23589580|PMID:23771340|PMID:23801527|PMID:23810313|PMID:23958773|PMID:24549961|PMID:24714718|PMID:24943082|PMID:25024265|PMID:25088311|PMID:25213595|PMID:25311598|PMID:25326635|PMID:25348630|PMID:25483584|PMID:25724373|PMID:25741868|PMID:25839108|PMID:25961944|PMID:26036855|PMID:26080010|PMID:26252573|PMID:26256659|PMID:26423924|PMID:26427606|PMID:26467025|PMID:26484179|PMID:26834636|PMID:26944947|PMID:27199537|PMID:27415035|PMID:27714768|PMID:27858759|PMID:27922499|PMID:28024841|PMID:28325641|PMID:28330959|PMID:28492532|PMID:28662944|PMID:29391559|PMID:29419865|PMID:29605429|PMID:29606556|PMID:29774303|PMID:29790872|PMID:29930533|PMID:29946067|PMID:29991727|PMID:30028520|PMID:30038349|PMID:30172468|PMID:30390395|PMID:30611854|PMID:30647473|PMID:30931713|PMID:31068157|PMID:31127727|PMID:31567646|PMID:31772215|PMID:32026975|PMID:32066100|PMID:32276507|PMID:32660787|PMID:32670189|PMID:32849172|PMID:33146414|PMID:33263785|PMID:33325393|PMID:34008892|PMID:34418069|PMID:7473241|PMID:7533571|PMID:7689382|PMID:7695243|PMID:7767090|PMID:7809121|PMID:7980103|PMID:8005599|PMID:8044656|PMID:8058156|PMID:8110459|PMID:8242056|PMID:8308722|PMID:8382500|PMID:8388676|PMID:8583225|PMID:8740371|PMID:8833340|PMID:8910215|PMID:8985730|PMID:9130156|PMID:9131651|PMID:9266738|PMID:9339683|PMID:9392583|PMID:9536098|PMID:9886942 11854693 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:9005532 Muscle Weakness ISO RGD:732165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868 11854693 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:9005884 Potassium Aggravated Myotonia ISO RGD:732165 D RGD:7240710 20180130 OMIM 11854693 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:9005884 Potassium Aggravated Myotonia ISO RGD:732165 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Myotonia congenita, acetazolamide-responsive | ClinVar Annotator: match by term: Myotonia congenita, atypical, acetazolamide-responsive | ClinVar Annotator: match by term: Myotonia fluctuans | ClinVar Annotator: match by term: Potassium-aggravated myotonia PMID:10206477|PMID:10218481|PMID:10682917|PMID:11744749|PMID:12562902|PMID:12872329|PMID:12898257|PMID:1310898|PMID:1316765|PMID:1338909|PMID:14518676|PMID:14617673|PMID:15037716|PMID:15534250|PMID:15774523|PMID:15790667|PMID:16392038|PMID:16624558|PMID:16786525|PMID:16832098|PMID:17334961|PMID:17576681|PMID:17823953|PMID:18046642|PMID:18166706|PMID:18337100|PMID:18337730|PMID:18414213|PMID:19770477|PMID:19840739|PMID:20076800|PMID:20445432|PMID:20522878|PMID:20681998|PMID:20713951|PMID:20981092|PMID:21220685|PMID:22094069|PMID:22507243|PMID:22653516|PMID:22759684|PMID:23589580|PMID:23771340|PMID:23810313|PMID:23884711|PMID:23958773|PMID:25088311|PMID:25311598|PMID:25483584|PMID:25724373|PMID:25741868|PMID:25755818|PMID:25839108|PMID:26080010|PMID:26220970|PMID:26423924|PMID:26467025|PMID:26834636|PMID:26885337|PMID:26944947|PMID:27199537|PMID:27415035|PMID:27714768|PMID:27858759|PMID:28150151|PMID:28325641|PMID:28492532|PMID:28779239|PMID:28877545|PMID:29605429|PMID:29606556|PMID:29774303|PMID:29790872|PMID:30038349|PMID:30390395|PMID:30611854|PMID:30647473|PMID:31567646|PMID:32026975|PMID:32276507|PMID:32528171|PMID:32660787|PMID:32670189|PMID:32849172|PMID:33263785|PMID:33325393|PMID:3822145|PMID:7473241|PMID:7533571|PMID:7676326|PMID:7695243|PMID:7809121|PMID:7965854|PMID:7980103|PMID:8005599|PMID:8044656|PMID:8058156|PMID:8110459|PMID:8242056|PMID:8308722|PMID:8583225|PMID:8740371|PMID:8910215|PMID:9130156|PMID:9266738|PMID:9336185|PMID:9392583|PMID:9536098|PMID:9618291|PMID:9660885|PMID:9771789 11854693 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:9006585 Congenital Myopathy 22 ISO RGD:732165 D RGD:7240710 20230517 OMIM 11854693 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:9007 sudden infant death syndrome ISO RGD:732165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868 11854693 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:9007141 Normokalemic Periodic Paralysis, Potassium-Sensitive ISO RGD:732165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Normokalemic periodic paralysis, potassium-sensitive PMID:15596759|PMID:18046642|PMID:19052238|PMID:19065518|PMID:19201608|PMID:19225109|PMID:22926674|PMID:23516313|PMID:24682880|PMID:25326635|PMID:25741868|PMID:25839108|PMID:26467025|PMID:28492532|PMID:29606556 11854693 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:9007674 Keppen-Lubinsky Syndrome ISO RGD:732165 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keppen-Lubinsky syndrome PMID:25741868|PMID:28492532 11854693 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:9008993 Myotonia ISO RGD:732165 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myotonia PMID:25741868|PMID:26467025|PMID:27922499|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33573884 11854722 CCL25 C-C motif chemokine ligand 25 gene DOID:0080490 mucolipidosis type IV ISO RGD:1313608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11854722 CCL25 C-C motif chemokine ligand 25 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1313608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 11854722 CCL25 C-C motif chemokine ligand 25 gene DOID:10247 pleurisy ISO RGD:1313609 D RGD:9068941 20200609 RGD protein:increased expression:pleural fluid PMID:18056919|REF_RGD_ID:5130924 11854722 CCL25 C-C motif chemokine ligand 25 gene DOID:12849 autistic disorder ISO RGD:1313608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11854722 CCL25 C-C motif chemokine ligand 25 gene DOID:630 genetic disease ISO RGD:1313608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854722 CCL25 C-C motif chemokine ligand 25 gene DOID:9004898 Jaundice ISO RGD:1305530 D RGD:9068941 20200609 RGD mRNA:decreased expression:ileum PMID:18592157|REF_RGD_ID:5130926 11854735 FAM161B FAM161 centrosomal protein B gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1319187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 11854735 FAM161B FAM161 centrosomal protein B gene DOID:1059 intellectual disability ISO RGD:1319187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11854735 FAM161B FAM161 centrosomal protein B gene DOID:630 genetic disease ISO RGD:1319187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854752 ECE2 endothelin converting enzyme 2 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1349338 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11854752 ECE2 endothelin converting enzyme 2 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1349338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11854752 ECE2 endothelin converting enzyme 2 gene DOID:0111546 Currarino syndrome ISO RGD:1349338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11854752 ECE2 endothelin converting enzyme 2 gene DOID:630 genetic disease ISO RGD:1349338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854781 CTRL chymotrypsin like gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1346038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11854781 CTRL chymotrypsin like gene DOID:2843 long QT syndrome ISO RGD:1346038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11854781 CTRL chymotrypsin like gene DOID:630 genetic disease ISO RGD:1346038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854798 TBP TATA-box binding protein gene DOID:0050847 sleep apnea ISO RGD:68980 D RGD:9068941 20200609 RGD associated with Sudden Infant Death; protein:altered expression:brainstem (human) PMID:14693397|REF_RGD_ID:5684350 11854798 TBP TATA-box binding protein gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:68980 D RGD:7240710 20230517 OMIM 11854798 TBP TATA-box binding protein gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:68980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 17 PMID:25741868 11854798 TBP TATA-box binding protein gene DOID:0060892 late onset Parkinson's disease ISO RGD:68980 D RGD:7240710 20230517 OMIM 11854798 TBP TATA-box binding protein gene DOID:10652 Alzheimer's disease ISO RGD:68980 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, entorhinal cortex (human) PMID:15193429|REF_RGD_ID:5684338 11854798 TBP TATA-box binding protein gene DOID:12858 Huntington's disease severity ISO RGD:68980 D RGD:9068941 20200609 RGD protein:increased expression:middle frontal gyrus (human) PMID:12531510|REF_RGD_ID:5684339 11854798 TBP TATA-box binding protein gene DOID:13938 amenorrhea ISO RGD:68980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11854798 TBP TATA-box binding protein gene DOID:5419 schizophrenia ISO RGD:68980 D RGD:9068941 20200609 RGD DNA:repeat:cds:g.172(CAG/CAA)36 (human) PMID:16054804|REF_RGD_ID:5684344 11854798 TBP TATA-box binding protein gene DOID:630 genetic disease ISO RGD:68980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854798 TBP TATA-box binding protein gene DOID:684 hepatocellular carcinoma ISO RGD:68980 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:24033266 11854798 TBP TATA-box binding protein gene DOID:9000039 Spinal Cord Injuries ISO RGD:67398 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord, astrocyte, microglial cell PMID:24710803|REF_RGD_ID:9681729 11854798 TBP TATA-box binding protein gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:68981 D RGD:9068941 20200609 RGD PMID:21705419|REF_RGD_ID:5684014 11854798 TBP TATA-box binding protein gene DOID:9002121 Spinocerebellar Ataxias onset ISO RGD:68980 D RGD:9068941 20200609 RGD DNA:repeat:cds:g.172(CAG/CAA)47-55 (human) PMID:11448935|REF_RGD_ID:5684015 11854798 TBP TATA-box binding protein gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:68980 D RGD:9068941 20200609 RGD DNA:repeat:cds:g.172(CAG/CAA)38 (human) PMID:15850778|REF_RGD_ID:5684349 11854798 TBP TATA-box binding protein gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:68980 D RGD:9068941 20200609 RGD DNA:repeat:cds:g.172(CAG/CAA)38 (human) PMID:15381080|REF_RGD_ID:5684348 11854816 SLC17A5 solute carrier family 17 member 5 gene DOID:0050450 Gitelman syndrome ISO RGD:1322823 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria PMID:25741868|PMID:28492532 11854816 SLC17A5 solute carrier family 17 member 5 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1322823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:25741868|PMID:28492532|PMID:29140481 11854816 SLC17A5 solute carrier family 17 member 5 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1322823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:25741868|PMID:28492532|PMID:29140481 11854816 SLC17A5 solute carrier family 17 member 5 gene DOID:1909 melanoma ISO RGD:1322823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 11854816 SLC17A5 solute carrier family 17 member 5 gene DOID:3211 lysosomal storage disease ISO RGD:1322824 D RGD:9068941 20220825 MouseDO 11854816 SLC17A5 solute carrier family 17 member 5 gene DOID:3659 sialuria ISO RGD:1322823 D RGD:7240710 20180130 OMIM 11854816 SLC17A5 solute carrier family 17 member 5 gene DOID:3659 sialuria ISO RGD:1322823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialic acid storage disease | ClinVar Annotator: match by term: Sialuria | ClinVar Annotator: match by term: Sialuria, Finnish type PMID:10069709|PMID:10581036|PMID:10947946|PMID:11992753|PMID:12121352|PMID:12359136|PMID:12592494|PMID:12637289|PMID:12709150|PMID:12794687|PMID:12794688|PMID:15172001|PMID:15172005|PMID:15510212|PMID:15516337|PMID:15805149|PMID:16170568|PMID:16199547|PMID:16715535|PMID:17576681|PMID:17933575|PMID:18399798|PMID:18695252|PMID:19557856|PMID:19763152|PMID:20101035|PMID:2010546|PMID:20301643|PMID:20307669|PMID:21781115|PMID:22406018|PMID:2334213|PMID:23900835|PMID:24767253|PMID:24993898|PMID:25085675|PMID:25525159|PMID:25640679|PMID:25741868|PMID:27848944|PMID:28166811|PMID:28492532|PMID:28662915|PMID:28771251|PMID:29140481|PMID:9536098 11854816 SLC17A5 solute carrier family 17 member 5 gene DOID:3659 sialuria ISO RGD:1322823 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria, Finnish type PMID:10069709|PMID:10546100|PMID:10581036|PMID:10947946|PMID:11992753|PMID:12121352|PMID:12359136|PMID:12592494|PMID:12637289|PMID:12709150|PMID:12794687|PMID:12794688|PMID:15172001|PMID:15172005|PMID:15510212|PMID:15516337|PMID:15805149|PMID:16170568|PMID:16199547|PMID:16715535|PMID:17576681|PMID:17933575|PMID:18399798|PMID:18695252|PMID:19557856|PMID:19763152|PMID:20101035|PMID:2010546|PMID:20301643|PMID:20307669|PMID:21781115|PMID:22406018|PMID:2334213|PMID:23900835|PMID:24767253|PMID:24993898|PMID:25085675|PMID:25525159|PMID:25640679|PMID:25741868|PMID:27848944|PMID:28492532|PMID:28662915|PMID:28771251|PMID:29140481|PMID:9536098 11854816 SLC17A5 solute carrier family 17 member 5 gene DOID:3659 sialuria ISO RGD:1322823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria, Finnish type PMID:10069709|PMID:10546100|PMID:10581036|PMID:10947946|PMID:11992753|PMID:12121352|PMID:12359136|PMID:12592494|PMID:12637289|PMID:12709150|PMID:12794687|PMID:12794688|PMID:15172001|PMID:15172005|PMID:15510212|PMID:15516337|PMID:15805149|PMID:16170568|PMID:16199547|PMID:16715535|PMID:17576681|PMID:17933575|PMID:18399798|PMID:18695252|PMID:19557856|PMID:19763152|PMID:20101035|PMID:2010546|PMID:20301643|PMID:20307669|PMID:21781115|PMID:22406018|PMID:2334213|PMID:23900835|PMID:24767253|PMID:24993898|PMID:25085675|PMID:25525159|PMID:25640679|PMID:25741868|PMID:27848944|PMID:28492532|PMID:28662915|PMID:28771251|PMID:29140481|PMID:29654786|PMID:30243016|PMID:31130284|PMID:9536098 11854816 SLC17A5 solute carrier family 17 member 5 gene DOID:630 genetic disease ISO RGD:1322823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24767253|PMID:24993898|PMID:25741868|PMID:28492532|PMID:29140481 11854816 SLC17A5 solute carrier family 17 member 5 gene DOID:9000742 Free Sialic Acid Storage Disease ISO RGD:1322823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: N-acetylneuraminic acid (NANA) storage disease (NSD) PMID:10069709|PMID:10546100|PMID:10581036|PMID:10947946|PMID:11992753|PMID:12121352|PMID:12359136|PMID:12709150|PMID:12794687|PMID:12794688|PMID:15172001|PMID:15510212|PMID:15516337|PMID:15805149|PMID:16170568|PMID:16199547|PMID:18399798|PMID:18695252|PMID:19557856|PMID:2010546|PMID:20301643|PMID:21781115|PMID:2334213|PMID:24767253|PMID:24993898|PMID:25741868|PMID:27848944|PMID:28492532|PMID:28662915|PMID:29140481|PMID:31130284 11854816 SLC17A5 solute carrier family 17 member 5 gene DOID:9003820 Infantile Sialic Storage Disease ISO RGD:1322823 D RGD:7240710 20180207 OMIM 11854816 SLC17A5 solute carrier family 17 member 5 gene DOID:9003820 Infantile Sialic Storage Disease ISO RGD:1322823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile sialic acid storage disorder (ISSD) | ClinVar Annotator: match by term: N-Acetylneuraminic acid storage disease | ClinVar Annotator: match by term: NANA STORAGE DISEASE PMID:10069709|PMID:10546100|PMID:10581036|PMID:10947946|PMID:11992753|PMID:12121352|PMID:12359136|PMID:12709150|PMID:12794687|PMID:12794688|PMID:15172001|PMID:15510212|PMID:15516337|PMID:15805149|PMID:16170568|PMID:16199547|PMID:18399798|PMID:18695252|PMID:19557856|PMID:2010546|PMID:20301643|PMID:21781115|PMID:2334213|PMID:24767253|PMID:24993898|PMID:25741868|PMID:27848944|PMID:28492532|PMID:28662915|PMID:29140481|PMID:31130284|PMID:7151835|PMID:7573152 11854839 TREML2 triggering receptor expressed on myeloid cells like 2 gene DOID:0050444 infantile Refsum disease ISO RGD:1353340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11854839 TREML2 triggering receptor expressed on myeloid cells like 2 gene DOID:630 genetic disease ISO RGD:1353340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854839 TREML2 triggering receptor expressed on myeloid cells like 2 gene DOID:905 Zellweger syndrome ISO RGD:1353340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11854849 SEC24A SEC24 homolog A, COPII coat complex component gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1319800 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11854849 SEC24A SEC24 homolog A, COPII coat complex component gene DOID:630 genetic disease ISO RGD:1319800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854849 SEC24A SEC24 homolog A, COPII coat complex component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11854849 SEC24A SEC24 homolog A, COPII coat complex component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 11854849 SEC24A SEC24 homolog A, COPII coat complex component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319800 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11854881 LOC100979352 olfactory receptor 14A16 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1352394 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11854881 LOC100979352 olfactory receptor 14A16 gene DOID:10283 prostate cancer ISO RGD:1352394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11854881 LOC100979352 olfactory receptor 14A16 gene DOID:1540 parathyroid carcinoma ISO RGD:1352394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11854881 LOC100979352 olfactory receptor 14A16 gene DOID:630 genetic disease ISO RGD:1352394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854881 LOC100979352 olfactory receptor 14A16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11854881 LOC100979352 olfactory receptor 14A16 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1352394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome PMID:28492532 11854881 LOC100979352 olfactory receptor 14A16 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11854885 PRKRA protein activator of interferon induced protein kinase EIF2AK2 gene DOID:0080855 Parkinsonism ISO RGD:1315476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18243799 11854885 PRKRA protein activator of interferon induced protein kinase EIF2AK2 gene DOID:0090048 dystonia 16 ISO RGD:1315476 D RGD:7240710 20180130 OMIM 11854885 PRKRA protein activator of interferon induced protein kinase EIF2AK2 gene DOID:0090048 dystonia 16 ISO RGD:1315476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia 16 PMID:18243799|PMID:18420150|PMID:24033266|PMID:24142417|PMID:25142429|PMID:25737287|PMID:25741868|PMID:26231208|PMID:26990861|PMID:28492532|PMID:29279192 11854885 PRKRA protein activator of interferon induced protein kinase EIF2AK2 gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1315476 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:18948003|PMID:23975875|PMID:24395473|PMID:25589632|PMID:28492532|PMID:30557390 11854885 PRKRA protein activator of interferon induced protein kinase EIF2AK2 gene DOID:0110511 autosomal recessive nonsyndromic deafness 59 ISO RGD:1315476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 59 11854885 PRKRA protein activator of interferon induced protein kinase EIF2AK2 gene DOID:1059 intellectual disability ISO RGD:1315476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11854885 PRKRA protein activator of interferon induced protein kinase EIF2AK2 gene DOID:543 dystonia ISO RGD:1315476 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:24033266|PMID:25741868|PMID:28492532 11854885 PRKRA protein activator of interferon induced protein kinase EIF2AK2 gene DOID:630 genetic disease ISO RGD:1315476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11854885 PRKRA protein activator of interferon induced protein kinase EIF2AK2 gene DOID:9001502 Congenital Microtia ISO RGD:1315476 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:25554729 11854885 PRKRA protein activator of interferon induced protein kinase EIF2AK2 gene DOID:9002500 Hearing Disorders ISO RGD:1315476 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:25554729 11854885 PRKRA protein activator of interferon induced protein kinase EIF2AK2 gene DOID:9004538 Hearing Loss ISO RGD:1315476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:28492532 11854885 PRKRA protein activator of interferon induced protein kinase EIF2AK2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1306707 D RGD:9068941 20200609 RGD PMID:21897745|REF_RGD_ID:7777145 11854885 PRKRA protein activator of interferon induced protein kinase EIF2AK2 gene DOID:9005941 Rhinosinusitis severity ISO RGD:1315476 D RGD:9068941 20200609 RGD associated with Nasal Polyps PMID:22961479|REF_RGD_ID:7777146 11854885 PRKRA protein activator of interferon induced protein kinase EIF2AK2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1315476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22194846 11854897 GLT1D1 glycosyltransferase 1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1606714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854913 CCDC160 coiled-coil domain containing 160 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:3379453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11854913 CCDC160 coiled-coil domain containing 160 gene DOID:0112127 HRPT-related hyperuricemia ISO RGD:3379453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency PMID:11018746|PMID:15571220|PMID:17027311|PMID:22157001|PMID:23975452|PMID:28492532|PMID:6087154 11854913 CCDC160 coiled-coil domain containing 160 gene DOID:12849 autistic disorder ISO RGD:3379453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11854913 CCDC160 coiled-coil domain containing 160 gene DOID:630 genetic disease ISO RGD:3379453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854920 PAX1 paired box 1 gene DOID:2907 Goldenhar syndrome ISO RGD:1350216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniofacial microsomia 11854920 PAX1 paired box 1 gene DOID:630 genetic disease ISO RGD:1350216 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11854920 PAX1 paired box 1 gene DOID:9002479 Otofaciocervical Syndrome 2 ISO RGD:1350216 D RGD:7240710 20180130 OMIM 11854920 PAX1 paired box 1 gene DOID:9002479 Otofaciocervical Syndrome 2 ISO RGD:1350216 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Otofaciocervical syndrome 2 PMID:1889089|PMID:23851939|PMID:25741868|PMID:28492532|PMID:28657137|PMID:29681087|PMID:32111619 11854920 PAX1 paired box 1 gene DOID:9002601 Otofaciocervical Syndrome 1 ISO RGD:1350216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11854928 BST2 bone marrow stromal cell antigen 2 gene DOID:0050012 chikungunya ISO RGD:1619156 D RGD:9068941 20200609 RGD PMID:25053563|REF_RGD_ID:14398493 11854928 BST2 bone marrow stromal cell antigen 2 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1346555 D RGD:9068941 20200609 RGD PMID:24706327|REF_RGD_ID:14398491 11854928 BST2 bone marrow stromal cell antigen 2 gene DOID:0060108 brain glioma ISO RGD:1619156 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brain: PMID:21565182|REF_RGD_ID:14398497 11854928 BST2 bone marrow stromal cell antigen 2 gene DOID:10534 stomach cancer disease_progression ISO RGD:1346555 D RGD:9068941 20200609 RGD PMID:26832883|REF_RGD_ID:14398496 11854928 BST2 bone marrow stromal cell antigen 2 gene DOID:12894 Sjogren's syndrome ISO RGD:1346555 D RGD:9068941 20200609 RGD mRNA, protein:increased expression: labial gland, CD19+ B cell, CD4-CD8-CD19-monocyte: PMID:30249485|REF_RGD_ID:14398821 11854928 BST2 bone marrow stromal cell antigen 2 gene DOID:1380 endometrial cancer ISO RGD:1346555 D RGD:9068941 20200609 RGD protein:increased expression:endometrium: PMID:22729361|REF_RGD_ID:14398498 11854928 BST2 bone marrow stromal cell antigen 2 gene DOID:1380 endometrial cancer treatment ISO RGD:1346555 D RGD:9068941 20200609 RGD PMID:22729361|PMID:26498112|REF_RGD_ID:14398492|REF_RGD_ID:14398498 11854928 BST2 bone marrow stromal cell antigen 2 gene DOID:3069 malignant astrocytoma severity ISO RGD:1346555 D RGD:9068941 20200609 RGD PMID:21565182|REF_RGD_ID:14398497 11854928 BST2 bone marrow stromal cell antigen 2 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1346555 D RGD:9068941 20200609 RGD PMID:26832883|REF_RGD_ID:14398496 11854928 BST2 bone marrow stromal cell antigen 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1346555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid progression to AIDS 11854928 BST2 bone marrow stromal cell antigen 2 gene DOID:630 genetic disease ISO RGD:1346555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854928 BST2 bone marrow stromal cell antigen 2 gene DOID:635 acquired immunodeficiency syndrome ISO RGD:1346555 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:26885809|REF_RGD_ID:14398494 11854928 BST2 bone marrow stromal cell antigen 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1619156 D RGD:9068941 20200609 RGD PMID:23806386|REF_RGD_ID:14398495 11854928 BST2 bone marrow stromal cell antigen 2 gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:1619156 D RGD:9068941 20200609 RGD PMID:23806386|REF_RGD_ID:14398495 11854928 BST2 bone marrow stromal cell antigen 2 gene DOID:9006644 Retroviridae Infections ISO RGD:1619156 D RGD:9068941 20200609 RGD PMID:22284121|PMID:24872193|REF_RGD_ID:14398761|REF_RGD_ID:14398822 11854928 BST2 bone marrow stromal cell antigen 2 gene DOID:9006644 Retroviridae Infections disease_progression ISO RGD:1346555 D RGD:9068941 20200609 RGD PMID:28381565|REF_RGD_ID:14398820 11854928 BST2 bone marrow stromal cell antigen 2 gene DOID:9008707 Viremia ISO RGD:1346555 D RGD:9068941 20200609 RGD associated with Retroviridae Infections; PMID:28381565|REF_RGD_ID:14398820 11854940 ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:736641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 PMID:28492532 11854940 ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 gene DOID:1059 intellectual disability ISO RGD:736641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26467025|PMID:28492532 11854940 ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 gene DOID:10907 microcephaly ISO RGD:736641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11854940 ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 gene DOID:630 genetic disease ISO RGD:736641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 11854940 ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 gene DOID:9000345 Periventricular Laminar Heterotopia ISO RGD:736641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Periventricular laminar heterotopia PMID:28492532 11854940 ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 gene DOID:9002205 Periventricular Nodular Heterotopia 2 ISO RGD:736641 D RGD:7240710 20180130 OMIM 11854940 ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 gene DOID:9002205 Periventricular Nodular Heterotopia 2 ISO RGD:736641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Periventricular heterotopia with microcephaly, autosomal recessive PMID:12682315|PMID:14647276|PMID:17576681|PMID:18414213|PMID:23812912|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28492532|PMID:9536098 11854940 ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 gene DOID:9008086 Developmental Disabilities ISO RGD:736641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 11854985 PIP4P1 phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1316692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 11854985 PIP4P1 phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 gene DOID:630 genetic disease ISO RGD:1316692 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11854999 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:1350540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia PMID:10455016|PMID:10720067|PMID:11549685|PMID:12466376|PMID:14671162|PMID:14715825|PMID:14715826|PMID:14715827|PMID:14747197|PMID:15771555|PMID:1577471|PMID:16569739|PMID:16772352|PMID:16822828|PMID:16849412|PMID:17379008|PMID:19636199|PMID:21340157|PMID:21340163|PMID:21846181|PMID:21966534|PMID:23291414|PMID:23466679|PMID:24033266|PMID:24498484|PMID:2493025|PMID:25741868|PMID:26543560|PMID:2786493|PMID:28008861|PMID:2843762|PMID:28492532|PMID:29595516|PMID:31636948|PMID:33864926|PMID:8396144|PMID:8550762|PMID:9326943|PMID:9601054|PMID:9892022 11854999 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:0060043 sexual health disorder ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15890676 11854999 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15706422 11854999 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:10211 cholelithiasis ISO RGD:1350540 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus; DNA:transition:5' utr:-34T>C rs743572 (human) PMID:16381022|REF_RGD_ID:2317619 11854999 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:10283 prostate cancer ISO RGD:1350540 D RGD:9068941 20200609 RGD PMID:18645193|REF_RGD_ID:4846627 11854999 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:10824 malignant hypertension ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3142437 11854999 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:11054 urinary bladder cancer ISO RGD:1350540 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 11854999 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:11446 sciatic neuropathy ISO RGD:2456 D RGD:9068941 20200609 RGD mRNA:decreased expression:spinal cord (rat) PMID:17720801|REF_RGD_ID:4889112 11854999 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:11476 osteoporosis ISO RGD:1350540 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:17002564|REF_RGD_ID:1625350 11854999 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1350540 D RGD:9068941 20200609 RGD protein:increased activity:ovary follicle, theca cell (human) PMID:11739466|REF_RGD_ID:4888511 11854999 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:12336 male infertility ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15890676 11854999 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:13938 amenorrhea ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18645707 11854999 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:1612 breast cancer ISO RGD:1350540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to PMID:16121340|PMID:17192295|PMID:1740503|PMID:20197673|PMID:22309630|PMID:24140098|PMID:26845730|PMID:28492532|PMID:29345162 11854999 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1350540 D RGD:9068941 20200609 RGD DNA:transition:5' utr:-34T>C rs743572 (human) PMID:19642097|REF_RGD_ID:2317618 11854999 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:1924 hypogonadism ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18645707 11854999 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1350540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:12068298|PMID:22508808|PMID:25403219|PMID:28492532|PMID:31639285 11854999 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:3121 gallbladder cancer susceptibility ISO RGD:1350540 D RGD:9068941 20200609 RGD DNA:transition:5' utr:-34T>C rs743572 (human) PMID:16381022|REF_RGD_ID:2317619 11854999 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:5119 ovarian cyst ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18645707 11854999 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1350540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11854999 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1350540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11854999 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341023 11854999 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:9000172 17,20-Lyase Deficiency, Isolated ISO RGD:1350540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 17,20-lyase deficiency, isolated | ClinVar Annotator: match by term: 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete | ClinVar Annotator: match by term: 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial PMID:10455016|PMID:10720067|PMID:11422109|PMID:11549685|PMID:11836339|PMID:12466376|PMID:12706306|PMID:14671162|PMID:14715825|PMID:14715826|PMID:14715827|PMID:14747197|PMID:15713706|PMID:15771555|PMID:1577471|PMID:15811924|PMID:15844475|PMID:16121340|PMID:1621662|PMID:16477341|PMID:16569739|PMID:16772352|PMID:16822828|PMID:16849412|PMID:1714904|PMID:17192295|PMID:17379008|PMID:1740503|PMID:19508587|PMID:20197673|PMID:21340157|PMID:21340163|PMID:21846181|PMID:21966534|PMID:22087567|PMID:22309630|PMID:22954317|PMID:23291414|PMID:2335573|PMID:23466679|PMID:24033266|PMID:24140098|PMID:24498484|PMID:2493025|PMID:25697092|PMID:25741868|PMID:26543560|PMID:26770544|PMID:26845730|PMID:27426448|PMID:2786493|PMID:27959413|PMID:28008861|PMID:2843762|PMID:28492532|PMID:28870780|PMID:29345162|PMID:29595516|PMID:29858860|PMID:33753170|PMID:6976525|PMID:7629254|PMID:8345056|PMID:8550762|PMID:9177409|PMID:9326943|PMID:9435441|PMID:9601054|PMID:9892022 11854999 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1350540 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:34426286|PMID:35764155 11854999 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:9000734 Oligomenorrhea ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18645707 11854999 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 11854999 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:9001961 Hyperkalemia ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18645707 11854999 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15538743|PMID:16424004|PMID:16859836|PMID:16998812|PMID:17592021 11854999 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:9005968 Neuralgia ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17720801 11854999 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:9006683 Congenital Adrenal Hyperplasia, Type 5 ISO RGD:1350540 D RGD:7240710 20180130 OMIM 11854999 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:9006683 Congenital Adrenal Hyperplasia, Type 5 ISO RGD:1350540 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia type 5 PMID:10720067|PMID:10877510|PMID:11243732|PMID:11549685|PMID:11549876|PMID:12466376|PMID:12706306|PMID:14671162|PMID:14715825|PMID:14715827|PMID:14747197|PMID:15771555|PMID:1577471|PMID:15844475|PMID:16121340|PMID:16199547|PMID:1621662|PMID:16477341|PMID:16569739|PMID:16772352|PMID:16822828|PMID:16849412|PMID:1714904|PMID:17192295|PMID:17379008|PMID:1740503|PMID:18422032|PMID:19470621|PMID:19508587|PMID:19636199|PMID:19728179|PMID:19793597|PMID:20170344|PMID:20197673|PMID:21340157|PMID:21340163|PMID:21846181|PMID:21966534|PMID:22087567|PMID:22309630|PMID:22954317|PMID:23291414|PMID:23466679|PMID:24033266|PMID:24140098|PMID:2493025|PMID:25697092|PMID:25741868|PMID:26467025|PMID:26543560|PMID:26770544|PMID:26845730|PMID:26980296|PMID:27426448|PMID:2786493|PMID:27959413|PMID:28008861|PMID:2843762|PMID:28492532|PMID:29278670|PMID:29345162|PMID:29595516|PMID:29858860|PMID:30229581|PMID:33753170|PMID:33864926|PMID:8245018|PMID:8345056|PMID:8550762|PMID:9326943|PMID:9601054|PMID:9855540|PMID:9892022 11854999 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:9007456 Female Infertility ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18645707 11854999 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1350540 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:19913079|PMID:34426286 11854999 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:9406 hypopituitarism ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12970278 11855010 SPAG8 sperm associated antigen 8 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1316057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11855010 SPAG8 sperm associated antigen 8 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1316057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:15146390|PMID:15572448|PMID:16199547|PMID:16384845|PMID:18945719|PMID:22691581|PMID:25741868|PMID:26567084|PMID:28492532|PMID:30359775|PMID:30408610|PMID:31960617 11855010 SPAG8 sperm associated antigen 8 gene DOID:0080942 anauxetic dysplasia ISO RGD:1316057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11855010 SPAG8 sperm associated antigen 8 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1316057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11855010 SPAG8 sperm associated antigen 8 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1316057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11855010 SPAG8 sperm associated antigen 8 gene DOID:630 genetic disease ISO RGD:1316057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855010 SPAG8 sperm associated antigen 8 gene DOID:9000342 Familial Focal Epilepsy, with Variable Foci 2 ISO RGD:1316057 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 2 PMID:25387261|PMID:25741868|PMID:26633542|PMID:30359775|PMID:30408610|PMID:32720985 11855010 SPAG8 sperm associated antigen 8 gene DOID:9001915 SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES ISO RGD:1316057 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Short stature with nonspecific skeletal abnormalities PMID:16384845|PMID:22691581|PMID:25741868|PMID:28492532 11855010 SPAG8 sperm associated antigen 8 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1316057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11855010 SPAG8 sperm associated antigen 8 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11855010 SPAG8 sperm associated antigen 8 gene DOID:9870 galactosemia ISO RGD:1316057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11855034 TMEM236 transmembrane protein 236 gene DOID:630 genetic disease ISO RGD:1349731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855042 SRP72 signal recognition particle 72 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1314481 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 11855042 SRP72 signal recognition particle 72 gene DOID:13580 cholestasis ISO RGD:1314481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 11855042 SRP72 signal recognition particle 72 gene DOID:630 genetic disease ISO RGD:1314481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11855042 SRP72 signal recognition particle 72 gene DOID:9001587 Bone Marrow Failure Syndrome 1 ISO RGD:1314481 D RGD:7240710 20180130 OMIM 11855042 SRP72 signal recognition particle 72 gene DOID:9001587 Bone Marrow Failure Syndrome 1 ISO RGD:1314481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone marrow failure syndrome 1 PMID:22541560|PMID:25741868|PMID:28492532 11855042 SRP72 signal recognition particle 72 gene DOID:9004906 Congenital Bone Marrow Failure Syndromes ISO RGD:1314481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11855042 SRP72 signal recognition particle 72 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1314481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 11855065 LOC100992727 SAGA-associated factor 29 gene DOID:0060041 autism spectrum disorder ISO RGD:1604249 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11855065 LOC100992727 SAGA-associated factor 29 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 11855065 LOC100992727 SAGA-associated factor 29 gene DOID:5419 schizophrenia ISO RGD:1604249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11855065 LOC100992727 SAGA-associated factor 29 gene DOID:630 genetic disease ISO RGD:1604249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855065 LOC100992727 SAGA-associated factor 29 gene DOID:8947 diabetic retinopathy severity ISO RGD:1604249 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1; DNA:SNP:intron: rs10521145(human) PMID:21441570|REF_RGD_ID:9587455 11855065 LOC100992727 SAGA-associated factor 29 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1604249 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11855082 C1H1orf53 chromosome 1 C1orf53 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1606868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11855082 C1H1orf53 chromosome 1 C1orf53 homolog gene DOID:630 genetic disease ISO RGD:1606868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855082 C1H1orf53 chromosome 1 C1orf53 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11855090 PHOSPHO1 phosphoethanolamine/phosphocholine phosphatase 1 gene DOID:630 genetic disease ISO RGD:1314655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855090 PHOSPHO1 phosphoethanolamine/phosphocholine phosphatase 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1314655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26773408 11855110 BOLA3 bolA family member 3 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1606380 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11855110 BOLA3 bolA family member 3 gene DOID:0080134 multiple mitochondrial dysfunctions syndrome 2 ISO RGD:1606380 D RGD:7240710 20180130 OMIM 11855110 BOLA3 bolA family member 3 gene DOID:0080134 multiple mitochondrial dysfunctions syndrome 2 ISO RGD:1606380 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 2 PMID:11156534|PMID:21944046|PMID:22562699|PMID:24334290|PMID:25741868|PMID:26741492|PMID:28492532|PMID:30302924 11855110 BOLA3 bolA family member 3 gene DOID:543 dystonia ISO RGD:1606380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11855110 BOLA3 bolA family member 3 gene DOID:630 genetic disease ISO RGD:1606380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11855110 BOLA3 bolA family member 3 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1606380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11855122 LOC100995589 uncharacterized LOC100995589 gene DOID:0050902 medulloblastoma ISO RGD:1352448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:26619011 11855122 LOC100995589 uncharacterized LOC100995589 gene DOID:0060464 Feingold syndrome ISO RGD:1352448 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum | ClinVar Annotator: match by term: MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE PMID:16906565|PMID:18470948|PMID:20301770|PMID:21224895|PMID:25741868|PMID:28492532|PMID:30573562 11855122 LOC100995589 uncharacterized LOC100995589 gene DOID:13938 amenorrhea ISO RGD:1352448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11855122 LOC100995589 uncharacterized LOC100995589 gene DOID:3068 glioblastoma ISO RGD:1352448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:26619011 11855122 LOC100995589 uncharacterized LOC100995589 gene DOID:363 uterine cancer ISO RGD:1352448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:26619011 11855122 LOC100995589 uncharacterized LOC100995589 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1352448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:26619011 11855122 LOC100995589 uncharacterized LOC100995589 gene DOID:5419 schizophrenia ISO RGD:1352448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11855122 LOC100995589 uncharacterized LOC100995589 gene DOID:5723 optic atrophy ISO RGD:1352448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:32581362 11855122 LOC100995589 uncharacterized LOC100995589 gene DOID:630 genetic disease ISO RGD:1352448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855122 LOC100995589 uncharacterized LOC100995589 gene DOID:769 neuroblastoma ISO RGD:1352448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26619011 11855128 LOC100995751 olfactory receptor 1L8 gene DOID:630 genetic disease ISO RGD:1351781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855206 CNTNAP1 contactin associated protein 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:734159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 11855206 CNTNAP1 contactin associated protein 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:734159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:25326635|PMID:25741868|PMID:28374019|PMID:32214227 11855206 CNTNAP1 contactin associated protein 1 gene DOID:630 genetic disease ISO RGD:734159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27668699|PMID:28492532|PMID:29882456|PMID:31395954 11855206 CNTNAP1 contactin associated protein 1 gene DOID:9000854 Lethal Congenital Contracture Syndrome 7 ISO RGD:734159 D RGD:7240710 20180130 OMIM 11855206 CNTNAP1 contactin associated protein 1 gene DOID:9000854 Lethal Congenital Contracture Syndrome 7 ISO RGD:734159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 7 PMID:24319099|PMID:25741868|PMID:27668699|PMID:27818385|PMID:28254648|PMID:28374019|PMID:28492532|PMID:29882456|PMID:31395954|PMID:31397905 11855206 CNTNAP1 contactin associated protein 1 gene DOID:9003308 Congenital Hypomyelinating Neuropathy 3 ISO RGD:734159 D RGD:7240710 20190315 OMIM 11855206 CNTNAP1 contactin associated protein 1 gene DOID:9003308 Congenital Hypomyelinating Neuropathy 3 ISO RGD:734159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuropathy, congenital hypomyelinating, 3 PMID:24319099|PMID:25326635|PMID:25741868|PMID:27668699|PMID:27782105|PMID:27818385|PMID:28374019|PMID:28492532|PMID:29511323|PMID:29882456|PMID:31395954|PMID:31397905|PMID:32214227 11855237 CST11 cystatin 11 gene DOID:630 genetic disease ISO RGD:735574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855249 IKZF2 IKAROS family zinc finger 2 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1318602 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 11855249 IKZF2 IKAROS family zinc finger 2 gene DOID:0080600 COVID-19 ISO RGD:1318602 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11855249 IKZF2 IKAROS family zinc finger 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1318602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11855249 IKZF2 IKAROS family zinc finger 2 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1318602 D RGD:9068941 20220204 RGD protein:decreased expression:venous blood, lung, regulatory T cell (human) PMID:26460798|REF_RGD_ID:151347635 11855249 IKZF2 IKAROS family zinc finger 2 gene DOID:630 genetic disease ISO RGD:1318602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855249 IKZF2 IKAROS family zinc finger 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11855249 IKZF2 IKAROS family zinc finger 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1318602 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23334668 11855268 LOC100969138 olfactory receptor 6B2 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1348824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11855268 LOC100969138 olfactory receptor 6B2 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1348824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11855268 LOC100969138 olfactory receptor 6B2 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1348824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 11855268 LOC100969138 olfactory receptor 6B2 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1348824 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11855268 LOC100969138 olfactory receptor 6B2 gene DOID:1059 intellectual disability ISO RGD:1348824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11855268 LOC100969138 olfactory receptor 6B2 gene DOID:630 genetic disease ISO RGD:1348824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855268 LOC100969138 olfactory receptor 6B2 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1348824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11855274 GLS2 glutaminase 2 gene DOID:630 genetic disease ISO RGD:1604019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855274 GLS2 glutaminase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11855310 PCGF3 polycomb group ring finger 3 gene DOID:1856 cherubism ISO RGD:1344033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11855310 PCGF3 polycomb group ring finger 3 gene DOID:630 genetic disease ISO RGD:1344033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855310 PCGF3 polycomb group ring finger 3 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1344033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 11855347 VPS39 VPS39 subunit of HOPS complex gene DOID:2717 Bloom syndrome ISO RGD:1312537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11855347 VPS39 VPS39 subunit of HOPS complex gene DOID:5419 schizophrenia ISO RGD:1312537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23042115 11855347 VPS39 VPS39 subunit of HOPS complex gene DOID:630 genetic disease ISO RGD:1312537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855347 VPS39 VPS39 subunit of HOPS complex gene DOID:9008939 Breast Neoplasms ISO RGD:1312537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 11855347 VPS39 VPS39 subunit of HOPS complex gene DOID:9256 colorectal cancer ISO RGD:1312537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11855379 DAXX death domain associated protein gene DOID:0050553 JMP syndrome ISO RGD:1345950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11855379 DAXX death domain associated protein gene DOID:0050866 oral squamous cell carcinoma ameliorates ISO RGD:1345950 D RGD:9068941 20220428 RGD human cell line in a mouse model PMID:26205068|REF_RGD_ID:152025200 11855379 DAXX death domain associated protein gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1345950 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 11855379 DAXX death domain associated protein gene DOID:0080521 lung non-squamous non-small cell carcinoma exacerbates ISO RGD:1345950 D RGD:9068941 20220428 RGD protein:decreased expression:lung (human) PMID:28004751|REF_RGD_ID:152025202 11855379 DAXX death domain associated protein gene DOID:10283 prostate cancer disease_progression ISO RGD:1345950 D RGD:9068941 20200609 RGD PMID:23642739|REF_RGD_ID:9587815 11855379 DAXX death domain associated protein gene DOID:10534 stomach cancer disease_progression ISO RGD:1345950 D RGD:9068941 20220428 RGD protein:decreased expression:stomach (human) PMID:32203224|REF_RGD_ID:152025201 11855379 DAXX death domain associated protein gene DOID:10534 stomach cancer exacerbates ISO RGD:1345950 D RGD:9068941 20220428 RGD protein:decreased expression:cytoplasm (human) PMID:28812328|REF_RGD_ID:152025197 11855379 DAXX death domain associated protein gene DOID:10534 stomach cancer severity ISO RGD:1345950 D RGD:9068941 20220428 RGD protein:altered expression:nucleus, cytoplasm (human) PMID:32641734|REF_RGD_ID:152025196 11855379 DAXX death domain associated protein gene DOID:11240 appendiceal neoplasm ISO RGD:1345950 D RGD:9068941 20220429 RGD DNA:CNV: (human) PMID:30962504|REF_RGD_ID:152025217 11855379 DAXX death domain associated protein gene DOID:1240 leukemia ISO RGD:1345950 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow: PMID:17306074|REF_RGD_ID:9587840 11855379 DAXX death domain associated protein gene DOID:169 neuroendocrine tumor ISO RGD:1345950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21252315 11855379 DAXX death domain associated protein gene DOID:169 neuroendocrine tumor severity ISO RGD:1345950 D RGD:9068941 20200609 RGD PMID:23954140|REF_RGD_ID:9587816 11855379 DAXX death domain associated protein gene DOID:1793 pancreatic cancer ISO RGD:1345950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21252315 11855379 DAXX death domain associated protein gene DOID:1798 pancreatic endocrine carcinoma disease_progression ISO RGD:1345950 D RGD:9068941 20220428 RGD DNA:frameshift, frameshift mutations, nonsense mutation, missense mutations:CDS:multiple (human) PMID:29212165|REF_RGD_ID:152025205 11855379 DAXX death domain associated protein gene DOID:1799 islet cell tumor disease_progression ISO RGD:1345950 D RGD:9068941 20200609 RGD PMID:21252315|REF_RGD_ID:9587819 11855379 DAXX death domain associated protein gene DOID:2152 ovary epithelial cancer ISO RGD:1345950 D RGD:9068941 20200609 RGD PMID:23539629|REF_RGD_ID:9587820 11855379 DAXX death domain associated protein gene DOID:224 transient cerebral ischemia ISO RGD:621227 D RGD:9068941 20220527 RGD mRNA,protein:increased expression:cerebral cortex: PMID:18096138|REF_RGD_ID:4142863 11855379 DAXX death domain associated protein gene DOID:224 transient cerebral ischemia treatment ISO RGD:621227 D RGD:9068941 20200609 RGD PMID:17967739|REF_RGD_ID:9587802 11855379 DAXX death domain associated protein gene DOID:234 colon adenocarcinoma ISO RGD:1345950 D RGD:9068941 20200609 RGD protein:decreased expression:colon: PMID:16569639|REF_RGD_ID:9587838 11855379 DAXX death domain associated protein gene DOID:2671 transitional cell carcinoma ISO RGD:1345950 D RGD:9068941 20200609 RGD PMID:23819605|REF_RGD_ID:9587843 11855379 DAXX death domain associated protein gene DOID:3948 adrenocortical carcinoma ISO RGD:1345950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747642 11855379 DAXX death domain associated protein gene DOID:4468 clear cell adenocarcinoma ISO RGD:1345950 D RGD:9068941 20200609 RGD protein:increased expression:ovary: PMID:23539629|REF_RGD_ID:9587820 11855379 DAXX death domain associated protein gene DOID:630 genetic disease ISO RGD:1345950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855379 DAXX death domain associated protein gene DOID:9000558 Mucinous Cystadenoma ISO RGD:1345950 D RGD:9068941 20200609 RGD protein:increased expression:ovary: PMID:23539629|REF_RGD_ID:9587820 11855379 DAXX death domain associated protein gene DOID:9000659 Heavy Metal Toxicity ISO RGD:621227 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:17692352|REF_RGD_ID:9587799 11855379 DAXX death domain associated protein gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345950 D RGD:9068941 20200609 RGD PMID:23539629|REF_RGD_ID:9587820 11855379 DAXX death domain associated protein gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:621227 D RGD:9068941 20200609 RGD PMID:21843499|REF_RGD_ID:9587791 11855379 DAXX death domain associated protein gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1345950 D RGD:9068941 20200609 RGD protein:increased expression:ovary: PMID:23539629|REF_RGD_ID:9587820 11855379 DAXX death domain associated protein gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor severity ISO RGD:1345950 D RGD:9068941 20210625 RGD PMID:26026117|REF_RGD_ID:127285385 11855379 DAXX death domain associated protein gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1345950 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:18480747|REF_RGD_ID:9587836 11855379 DAXX death domain associated protein gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:732822 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:18480747|REF_RGD_ID:9587836 11855379 DAXX death domain associated protein gene DOID:9006618 Liver Metastasis ISO RGD:1345950 D RGD:9068941 20220428 RGD associated with pancreatic endocrine carcinoma;DNA:mutations:CDS:multiple (human) PMID:30339629|REF_RGD_ID:152025203 11855379 DAXX death domain associated protein gene DOID:9006618 Liver Metastasis exacerbates ISO RGD:1345950 D RGD:9068941 20220428 RGD associated with colon cancer; mRNA:decreased expression:liver (human) PMID:31942198|REF_RGD_ID:152025194 11855379 DAXX death domain associated protein gene DOID:9006618 Liver Metastasis exacerbates ISO RGD:1345950 D RGD:9068941 20220428 RGD associated with neuroendocrine tumor;DNA:mutations:CDS:multiple (human) PMID:30342802|REF_RGD_ID:152025199 11855379 DAXX death domain associated protein gene DOID:9008844 Serous Cystadenoma ISO RGD:1345950 D RGD:9068941 20200609 RGD protein:increased expression:ovary: PMID:23539629|REF_RGD_ID:9587820 11855393 UBE2R2 ubiquitin conjugating enzyme E2 R2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1321905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11855393 UBE2R2 ubiquitin conjugating enzyme E2 R2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1321905 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11855393 UBE2R2 ubiquitin conjugating enzyme E2 R2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1321905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11855393 UBE2R2 ubiquitin conjugating enzyme E2 R2 gene DOID:630 genetic disease ISO RGD:1321905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855393 UBE2R2 ubiquitin conjugating enzyme E2 R2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11855393 UBE2R2 ubiquitin conjugating enzyme E2 R2 gene DOID:9870 galactosemia ISO RGD:1321905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11855402 EMC4 ER membrane protein complex subunit 4 gene DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy ISO RGD:1605682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy 11855402 EMC4 ER membrane protein complex subunit 4 gene DOID:2717 Bloom syndrome ISO RGD:1605682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11855402 EMC4 ER membrane protein complex subunit 4 gene DOID:630 genetic disease ISO RGD:1605682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855402 EMC4 ER membrane protein complex subunit 4 gene DOID:9256 colorectal cancer ISO RGD:1605682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11855414 LRRC61 leucine rich repeat containing 61 gene DOID:630 genetic disease ISO RGD:1602102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855424 FLT4 fms related receptor tyrosine kinase 4 gene DOID:0050580 hereditary lymphedema ISO RGD:733489 D RGD:9068941 20220825 MouseDO OMIM:153100 | OMIM:153200 | OMIM:247440 | OMIM:611944 | OMIM:613480 | OMIM:615907 11855424 FLT4 fms related receptor tyrosine kinase 4 gene DOID:0070210 hereditary lymphedema IA ISO RGD:733488 D RGD:7240710 20180912 OMIM 11855424 FLT4 fms related receptor tyrosine kinase 4 gene DOID:0070210 hereditary lymphedema IA ISO RGD:733488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary lymphedema type I PMID:10835628|PMID:10856194|PMID:16924388|PMID:16965327|PMID:19289394|PMID:24033266|PMID:25741868|PMID:9817924 11855424 FLT4 fms related receptor tyrosine kinase 4 gene DOID:0070212 hereditary lymphedema I ISO RGD:733488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary lymphedema type I PMID:10835628|PMID:10856194|PMID:16924388|PMID:16965327|PMID:19289394|PMID:24033266|PMID:25741868|PMID:9817924 11855424 FLT4 fms related receptor tyrosine kinase 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:733488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11855424 FLT4 fms related receptor tyrosine kinase 4 gene DOID:1475 lymphangioma ISO RGD:733488 D RGD:9068941 20200609 RGD protein:increased expression:;lymphatic endothelial cell: PMID:17584927|REF_RGD_ID:8552338 11855424 FLT4 fms related receptor tyrosine kinase 4 gene DOID:1520 colon carcinoma ISO RGD:733488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:11807987|PMID:25741868|PMID:28492532 11855424 FLT4 fms related receptor tyrosine kinase 4 gene DOID:3307 teratoma ISO RGD:733488 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 11855424 FLT4 fms related receptor tyrosine kinase 4 gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:733488 D RGD:9068941 20220310 RGD PMID:32626543|REF_RGD_ID:151665104 11855424 FLT4 fms related receptor tyrosine kinase 4 gene DOID:418 systemic scleroderma ISO RGD:733488 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:21865112|REF_RGD_ID:8552335 11855424 FLT4 fms related receptor tyrosine kinase 4 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:733488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25239121 11855424 FLT4 fms related receptor tyrosine kinase 4 gene DOID:4977 lymphedema ISO RGD:733488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11855424 FLT4 fms related receptor tyrosine kinase 4 gene DOID:630 genetic disease ISO RGD:733488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19002718|PMID:24167460|PMID:25741868|PMID:28492532 11855424 FLT4 fms related receptor tyrosine kinase 4 gene DOID:6419 tetralogy of Fallot ISO RGD:733488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28991257 11855424 FLT4 fms related receptor tyrosine kinase 4 gene DOID:9001525 Congenital Heart Defects, Multiple Types, 7 ISO RGD:733488 D RGD:7240710 20200226 OMIM 11855424 FLT4 fms related receptor tyrosine kinase 4 gene DOID:9001525 Congenital Heart Defects, Multiple Types, 7 ISO RGD:733488 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 7 PMID:23074044|PMID:24033266|PMID:25741868|PMID:28991257|PMID:30232381|PMID:30582441 11855424 FLT4 fms related receptor tyrosine kinase 4 gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:733488 D RGD:7240710 20180130 OMIM 11855424 FLT4 fms related receptor tyrosine kinase 4 gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:733488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY PMID:11807987|PMID:25741868|PMID:28492532 11855457 ABCA8 ATP binding cassette subfamily A member 8 gene DOID:0060041 autism spectrum disorder ISO RGD:1316041 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11855457 ABCA8 ATP binding cassette subfamily A member 8 gene DOID:630 genetic disease ISO RGD:1316041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855457 ABCA8 ATP binding cassette subfamily A member 8 gene DOID:9002801 Recurrence ISO RGD:1316041 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 11855457 ABCA8 ATP binding cassette subfamily A member 8 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1316041 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 11855457 ABCA8 ATP binding cassette subfamily A member 8 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316041 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 11855457 ABCA8 ATP binding cassette subfamily A member 8 gene DOID:9008939 Breast Neoplasms ISO RGD:1316041 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35191604 11855500 HRH3 histamine receptor H3 gene DOID:10763 hypertension ISO RGD:620630 D RGD:9068941 20200609 RGD PMID:9050021|REF_RGD_ID:1626409 11855500 HRH3 histamine receptor H3 gene DOID:10763 hypertension ISO RGD:732356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9050021 11855500 HRH3 histamine receptor H3 gene DOID:10808 gastric ulcer ISO RGD:620630 D RGD:9068941 20200609 RGD PMID:15680274|REF_RGD_ID:1626428 11855500 HRH3 histamine receptor H3 gene DOID:10914 amnestic disorder ISO RGD:620630 D RGD:9068941 20200609 RGD PMID:17276409|REF_RGD_ID:1626421 11855500 HRH3 histamine receptor H3 gene DOID:10914 amnestic disorder ISO RGD:732356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11125734 11855500 HRH3 histamine receptor H3 gene DOID:11446 sciatic neuropathy ISO RGD:620630 D RGD:9068941 20200609 RGD PMID:17350523|REF_RGD_ID:1626418 11855500 HRH3 histamine receptor H3 gene DOID:11832 visual epilepsy ISO RGD:620630 D RGD:9068941 20200609 RGD PMID:15319804|REF_RGD_ID:1626432 11855500 HRH3 histamine receptor H3 gene DOID:1824 status epilepticus ISO RGD:620630 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:16137576|REF_RGD_ID:1626426 11855500 HRH3 histamine receptor H3 gene DOID:4195 hyperglycemia ISO RGD:620630 D RGD:9068941 20200609 RGD PMID:11684344|REF_RGD_ID:1626408 11855500 HRH3 histamine receptor H3 gene DOID:630 genetic disease ISO RGD:732356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855500 HRH3 histamine receptor H3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620630 D RGD:9068941 20200609 RGD PMID:16671478|REF_RGD_ID:1626425 11855500 HRH3 histamine receptor H3 gene DOID:9004009 Reperfusion Injury ISO RGD:620630 D RGD:9068941 20200609 RGD PMID:17169356|REF_RGD_ID:1626416 11855500 HRH3 histamine receptor H3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620630 D RGD:9068941 20200609 RGD PMID:15076218|REF_RGD_ID:1626433 11855500 HRH3 histamine receptor H3 gene DOID:9008023 Memory Disorders ISO RGD:732356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16488453 11855500 HRH3 histamine receptor H3 gene DOID:9009039 Hyperemia ISO RGD:620630 D RGD:9068941 20200609 RGD PMID:15381834|REF_RGD_ID:1626431 11855500 HRH3 histamine receptor H3 gene DOID:9970 obesity ISO RGD:620630 D RGD:9068941 20200609 RGD PMID:17189541|REF_RGD_ID:1626405 11855510 TBC1D16 TBC1 domain family member 16 gene DOID:630 genetic disease ISO RGD:1345819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855510 TBC1D16 TBC1 domain family member 16 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1345819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 11855536 MRPL48 mitochondrial ribosomal protein L48 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1316849 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11855536 MRPL48 mitochondrial ribosomal protein L48 gene DOID:1059 intellectual disability ISO RGD:1316849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11855536 MRPL48 mitochondrial ribosomal protein L48 gene DOID:630 genetic disease ISO RGD:1316849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855552 AQP10 aquaporin 10 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1344809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11855552 AQP10 aquaporin 10 gene DOID:0111940 immunodeficiency 42 ISO RGD:1344809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11855552 AQP10 aquaporin 10 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11855552 AQP10 aquaporin 10 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 11855552 AQP10 aquaporin 10 gene DOID:1540 parathyroid carcinoma ISO RGD:1344809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11855552 AQP10 aquaporin 10 gene DOID:5812 MHC class II deficiency ISO RGD:1344809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11855552 AQP10 aquaporin 10 gene DOID:630 genetic disease ISO RGD:1344809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855552 AQP10 aquaporin 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11855565 KLHL20 kelch like family member 20 gene DOID:10283 prostate cancer ISO RGD:1343100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11855565 KLHL20 kelch like family member 20 gene DOID:1059 intellectual disability ISO RGD:1343100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11855565 KLHL20 kelch like family member 20 gene DOID:1540 parathyroid carcinoma ISO RGD:1343100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11855565 KLHL20 kelch like family member 20 gene DOID:3755 antithrombin III deficiency ISO RGD:1343100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 11855565 KLHL20 kelch like family member 20 gene DOID:630 genetic disease ISO RGD:1343100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855565 KLHL20 kelch like family member 20 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1343100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 11855565 KLHL20 kelch like family member 20 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11855565 KLHL20 kelch like family member 20 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1343100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 11855565 KLHL20 kelch like family member 20 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11855587 ARCN1 archain 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1344658 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11855587 ARCN1 archain 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1344658 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11855587 ARCN1 archain 1 gene DOID:0080690 RASopathy ISO RGD:1344658 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11855587 ARCN1 archain 1 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1344658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 11855587 ARCN1 archain 1 gene DOID:0110651 long QT syndrome 10 ISO RGD:1344658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11855587 ARCN1 archain 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1344658 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11855587 ARCN1 archain 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1344658 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11855587 ARCN1 archain 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1344658 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11855587 ARCN1 archain 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1344658 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11855587 ARCN1 archain 1 gene DOID:10907 microcephaly ISO RGD:1344658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11855587 ARCN1 archain 1 gene DOID:630 genetic disease ISO RGD:1344658 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11855587 ARCN1 archain 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1344658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11855587 ARCN1 archain 1 gene DOID:9004866 Ataxia ISO RGD:1344658 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20502676 11855587 ARCN1 archain 1 gene DOID:9005682 Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay ISO RGD:1344658 D RGD:7240710 20190315 OMIM 11855587 ARCN1 archain 1 gene DOID:9005682 Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay ISO RGD:1344658 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay PMID:25741868|PMID:27476655|PMID:28492532|PMID:31075182|PMID:33154040|PMID:35300924 11855587 ARCN1 archain 1 gene DOID:9007661 Dwarfism ISO RGD:1344658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11855601 CLEC17A C-type lectin domain containing 17A gene DOID:630 genetic disease ISO RGD:1601795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855619 KIF23 kinesin family member 23 gene DOID:0080600 COVID-19 ISO RGD:1318460 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11855619 KIF23 kinesin family member 23 gene DOID:0111399 congenital dyserythropoietic anemia type III ISO RGD:1318460 D RGD:7240710 20220406 OMIM 11855619 KIF23 kinesin family member 23 gene DOID:0111399 congenital dyserythropoietic anemia type III ISO RGD:1318460 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type III PMID:13867810|PMID:14886400|PMID:23570799|PMID:25741868|PMID:28492532|PMID:33159567 11855619 KIF23 kinesin family member 23 gene DOID:10907 microcephaly ISO RGD:1318460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:26539891 11855619 KIF23 kinesin family member 23 gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:1318460 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism 11855619 KIF23 kinesin family member 23 gene DOID:2717 Bloom syndrome ISO RGD:1318460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11855619 KIF23 kinesin family member 23 gene DOID:630 genetic disease ISO RGD:1318460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11855619 KIF23 kinesin family member 23 gene DOID:684 hepatocellular carcinoma ISO RGD:1318460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11855619 KIF23 kinesin family member 23 gene DOID:9256 colorectal cancer ISO RGD:1318460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11855652 BIRC6 baculoviral IAP repeat containing 6 gene DOID:0060041 autism spectrum disorder ISO RGD:1316326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11855652 BIRC6 baculoviral IAP repeat containing 6 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1316326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:25065914|PMID:25741868 11855652 BIRC6 baculoviral IAP repeat containing 6 gene DOID:14566 disease of cellular proliferation ISO RGD:1316326 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18239605 11855652 BIRC6 baculoviral IAP repeat containing 6 gene DOID:2526 prostate adenocarcinoma ameliorates ISO RGD:1316326 D RGD:9068941 20220818 RGD mRNA:increased expression:prostate gland (human) PMID:31964418|REF_RGD_ID:153344516 11855652 BIRC6 baculoviral IAP repeat containing 6 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:1316326 D RGD:9068941 20220818 RGD mRNA:increased expression:lung (human) PMID:31964418|REF_RGD_ID:153344516 11855652 BIRC6 baculoviral IAP repeat containing 6 gene DOID:3948 adrenocortical carcinoma exacerbates ISO RGD:1316326 D RGD:9068941 20220818 RGD mRNA:increased expression:adrenal gland (human) PMID:31964418|REF_RGD_ID:153344516 11855652 BIRC6 baculoviral IAP repeat containing 6 gene DOID:4467 clear cell renal cell carcinoma ameliorates ISO RGD:1316326 D RGD:9068941 20220818 RGD mRNA:increased expression:kidney (human) PMID:31964418|REF_RGD_ID:153344516 11855652 BIRC6 baculoviral IAP repeat containing 6 gene DOID:4947 cholangiocarcinoma ameliorates ISO RGD:1316326 D RGD:9068941 20220818 RGD mRNA:increased expression:bile duct (human) PMID:31964418|REF_RGD_ID:153344516 11855652 BIRC6 baculoviral IAP repeat containing 6 gene DOID:5419 schizophrenia ISO RGD:1316326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11855652 BIRC6 baculoviral IAP repeat containing 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11855652 BIRC6 baculoviral IAP repeat containing 6 gene DOID:607 paraplegia ISO RGD:1316326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 11855652 BIRC6 baculoviral IAP repeat containing 6 gene DOID:630 genetic disease ISO RGD:1316326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855652 BIRC6 baculoviral IAP repeat containing 6 gene DOID:9003654 Testicular Germ Cell Tumor disease_progression ISO RGD:1316326 D RGD:9068941 20220818 RGD mRNA:decreased expression:testis (human) PMID:31964418|REF_RGD_ID:153344516 11855730 WBP11 WW domain binding protein 11 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1317378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 11855730 WBP11 WW domain binding protein 11 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1317378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 11855730 WBP11 WW domain binding protein 11 gene DOID:630 genetic disease ISO RGD:1317378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855730 WBP11 WW domain binding protein 11 gene DOID:9008737 VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS ISO RGD:1317378 D RGD:7240710 20210421 OMIM 11855730 WBP11 WW domain binding protein 11 gene DOID:9008737 VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS ISO RGD:1317378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vertebral, cardiac, tracheoesophageal, renal, and limb defects | ClinVar Annotator: match by term: WBP11 spliceosomopathy PMID:25741868|PMID:33276377 11855753 LRRC37B leucine rich repeat containing 37B gene DOID:1969 cerebral palsy ISO RGD:1606474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 11855753 LRRC37B leucine rich repeat containing 37B gene DOID:630 genetic disease ISO RGD:1606474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855766 RNF181 ring finger protein 181 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1602715 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 11855766 RNF181 ring finger protein 181 gene DOID:630 genetic disease ISO RGD:1602715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855780 CYP4X1 cytochrome P450 family 4 subfamily X member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:731278 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11855780 CYP4X1 cytochrome P450 family 4 subfamily X member 1 gene DOID:630 genetic disease ISO RGD:731278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855796 STKLD1 serine/threonine kinase like domain containing 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1316505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 11855796 STKLD1 serine/threonine kinase like domain containing 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11855796 STKLD1 serine/threonine kinase like domain containing 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1316505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11855796 STKLD1 serine/threonine kinase like domain containing 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11855796 STKLD1 serine/threonine kinase like domain containing 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1316505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11855796 STKLD1 serine/threonine kinase like domain containing 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1316505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11855796 STKLD1 serine/threonine kinase like domain containing 1 gene DOID:3652 Leigh disease ISO RGD:1316505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11855796 STKLD1 serine/threonine kinase like domain containing 1 gene DOID:630 genetic disease ISO RGD:1316505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855825 PCCB propionyl-CoA carboxylase subunit beta gene DOID:14701 propionic acidemia ISO RGD:731965 D RGD:7240710 20180130 OMIM 11855825 PCCB propionyl-CoA carboxylase subunit beta gene DOID:14701 propionic acidemia ISO RGD:731965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:10447268|PMID:10502773|PMID:10780784|PMID:10820128|PMID:10910839|PMID:11136555|PMID:11749052|PMID:12007220|PMID:12189489|PMID:12409268|PMID:12559849|PMID:12757933|PMID:12888983|PMID:15059621|PMID:15235904|PMID:15464417|PMID:15890657|PMID:15949719|PMID:16199547|PMID:17051315|PMID:17415538|PMID:17576681|PMID:17966092|PMID:18599334|PMID:19099776|PMID:19238581|PMID:19342984|PMID:20549364|PMID:20725044|PMID:21125326|PMID:2154743|PMID:22033733|PMID:22156789|PMID:22334403|PMID:22593918|PMID:22863191|PMID:23053474|PMID:23430860|PMID:24033266|PMID:24059531|PMID:24516753|PMID:24863100|PMID:24916042|PMID:25047749|PMID:25087612|PMID:25636094|PMID:25741868|PMID:25851414|PMID:25865301|PMID:26467025|PMID:26589311|PMID:26830710|PMID:27227689|PMID:27243974|PMID:27578510|PMID:27776753|PMID:27825584|PMID:27896094|PMID:27900673|PMID:28492532|PMID:28649556|PMID:28853722|PMID:29033250|PMID:29247206|PMID:29679984|PMID:30013935|PMID:30274917|PMID:30705822|PMID:31757659|PMID:31808324|PMID:31916709|PMID:32252659|PMID:32778825|PMID:32860008|PMID:33028371|PMID:33473339|PMID:33587123|PMID:33725819|PMID:33923806|PMID:33981581|PMID:34006296|PMID:8023851|PMID:8225321|PMID:8295402|PMID:8411997|PMID:8852656|PMID:9452096|PMID:9536098|PMID:9683601 11855825 PCCB propionyl-CoA carboxylase subunit beta gene DOID:630 genetic disease ISO RGD:731965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11136555|PMID:11749052|PMID:12757933|PMID:15059621|PMID:15464417|PMID:22033733|PMID:22334403|PMID:22593918|PMID:23053474|PMID:23430860|PMID:24863100|PMID:25741868|PMID:28492532|PMID:30274917|PMID:33473339|PMID:33725819|PMID:9683601 11855825 PCCB propionyl-CoA carboxylase subunit beta gene DOID:9008086 Developmental Disabilities ISO RGD:731965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 11855825 PCCB propionyl-CoA carboxylase subunit beta gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:731965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 11855825 PCCB propionyl-CoA carboxylase subunit beta gene DOID:9252 amino acid metabolic disorder ISO RGD:731965 D RGD:9068941 20200609 RGD propionic acidemia, OMIM:606054, DNA:point mutation:exon:R412W PMID:8411997|REF_RGD_ID:1600331 11855844 RIMS2 regulating synaptic membrane exocytosis 2 gene DOID:0111590 Cohen syndrome ISO RGD:1351338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 11855844 RIMS2 regulating synaptic membrane exocytosis 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1351338 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 11855844 RIMS2 regulating synaptic membrane exocytosis 2 gene DOID:630 genetic disease ISO RGD:1351338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855844 RIMS2 regulating synaptic membrane exocytosis 2 gene DOID:9003893 CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE ISO RGD:1351338 D RGD:7240710 20200910 OMIM 11855844 RIMS2 regulating synaptic membrane exocytosis 2 gene DOID:9003893 CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE ISO RGD:1351338 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone-rod synaptic disorder syndrome, congenital nonprogressive PMID:25741868|PMID:28492532|PMID:32470375 11855906 AREL1 apoptosis resistant E3 ubiquitin protein ligase 1 gene DOID:0070276 hereditary nonpolyposis colorectal cancer type 7 ISO RGD:1316884 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 7 PMID:12702580|PMID:17656264|PMID:22290698|PMID:25927356|PMID:28492532|PMID:32984025 11855906 AREL1 apoptosis resistant E3 ubiquitin protein ligase 1 gene DOID:1059 intellectual disability ISO RGD:1316884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11855906 AREL1 apoptosis resistant E3 ubiquitin protein ligase 1 gene DOID:2871 endometrial carcinoma ISO RGD:1316884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:12702580|PMID:17656264|PMID:22290698|PMID:28492532 11855906 AREL1 apoptosis resistant E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1316884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855906 AREL1 apoptosis resistant E3 ubiquitin protein ligase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316884 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12702580|PMID:17656264|PMID:22290698|PMID:25927356|PMID:28492532|PMID:32984025 11855942 ZNF790 zinc finger protein 790 gene DOID:630 genetic disease ISO RGD:1603835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855961 DNASE2 deoxyribonuclease 2, lysosomal gene DOID:0050990 episodic ataxia type 2 ISO RGD:1343662 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11855961 DNASE2 deoxyribonuclease 2, lysosomal gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1343662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11855961 DNASE2 deoxyribonuclease 2, lysosomal gene DOID:0111254 glutaric acidemia I ISO RGD:1343662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11855961 DNASE2 deoxyribonuclease 2, lysosomal gene DOID:3413 alpha-mannosidosis ISO RGD:1343662 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11855961 DNASE2 deoxyribonuclease 2, lysosomal gene DOID:630 genetic disease ISO RGD:1343662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11855961 DNASE2 deoxyribonuclease 2, lysosomal gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1343662 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 PMID:28492532 11855961 DNASE2 deoxyribonuclease 2, lysosomal gene DOID:9001921 AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME ISO RGD:1343662 D RGD:7240710 20220615 OMIM 11855961 DNASE2 deoxyribonuclease 2, lysosomal gene DOID:9001921 AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME ISO RGD:1343662 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autoinflammatory-pancytopenia syndrome PMID:24242851|PMID:25741868|PMID:28492532|PMID:29259162|PMID:31775019 11855961 DNASE2 deoxyribonuclease 2, lysosomal gene DOID:9074 systemic lupus erythematosus ISO RGD:1343662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus 11855978 C18H18orf32 chromosome 18 C18orf32 homolog gene DOID:1059 intellectual disability ISO RGD:1626573 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11855978 C18H18orf32 chromosome 18 C18orf32 homolog gene DOID:630 genetic disease ISO RGD:1626573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855978 C18H18orf32 chromosome 18 C18orf32 homolog gene DOID:9003554 Glycosylphosphatidylinositol Biosynthesis Defect 25 ISO RGD:1626573 D RGD:7240710 20220810 OMIM 11855988 RAD9A RAD9 checkpoint clamp component A gene DOID:1059 intellectual disability ISO RGD:1321649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11855988 RAD9A RAD9 checkpoint clamp component A gene DOID:630 genetic disease ISO RGD:1321649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11855988 RAD9A RAD9 checkpoint clamp component A gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1321649 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11855988 RAD9A RAD9 checkpoint clamp component A gene DOID:9005715 Neoplasms, Second Primary ISO RGD:1321649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21991345 11855988 RAD9A RAD9 checkpoint clamp component A gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1321649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11856018 HMG20A high mobility group 20A gene DOID:2717 Bloom syndrome ISO RGD:1350467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11856018 HMG20A high mobility group 20A gene DOID:5419 schizophrenia ISO RGD:1350467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11856018 HMG20A high mobility group 20A gene DOID:630 genetic disease ISO RGD:1350467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856018 HMG20A high mobility group 20A gene DOID:9256 colorectal cancer ISO RGD:1350467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11856018 HMG20A high mobility group 20A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350467 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21874001 11856032 PDCD6 programmed cell death 6 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1322592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 11856032 PDCD6 programmed cell death 6 gene DOID:630 genetic disease ISO RGD:1322592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856032 PDCD6 programmed cell death 6 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1322592 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 11856050 LOC100988585 transmembrane protein 220 gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:1344696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 11856050 LOC100988585 transmembrane protein 220 gene DOID:114 heart disease ISO RGD:1344696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23345593 11856050 LOC100988585 transmembrane protein 220 gene DOID:3652 Leigh disease ISO RGD:1344696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11856050 LOC100988585 transmembrane protein 220 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1344696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11856050 LOC100988585 transmembrane protein 220 gene DOID:409 liver disease ISO RGD:1344696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23345593 11856050 LOC100988585 transmembrane protein 220 gene DOID:630 genetic disease ISO RGD:1344696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11856050 LOC100988585 transmembrane protein 220 gene DOID:700 mitochondrial metabolism disease ISO RGD:1344696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17182746 11856050 LOC100988585 transmembrane protein 220 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1344696 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:28492532 11856050 LOC100988585 transmembrane protein 220 gene DOID:9000822 Mitochondrial Complex IV Deficiency, Nuclear Type 4 ISO RGD:1344696 D RGD:7240710 20201111 OMIM 11856050 LOC100988585 transmembrane protein 220 gene DOID:9000822 Mitochondrial Complex IV Deficiency, Nuclear Type 4 ISO RGD:1344696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4 PMID:11013136|PMID:11118289|PMID:16520371|PMID:17182746|PMID:19295170|PMID:23345593|PMID:23878101|PMID:24403053|PMID:25741868|PMID:28492532|PMID:29381136 11856050 LOC100988585 transmembrane protein 220 gene DOID:9004590 Acute Liver Failure ISO RGD:1344696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864674 11856050 LOC100988585 transmembrane protein 220 gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:1344696 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:25741868|PMID:28492532 11856050 LOC100988585 transmembrane protein 220 gene DOID:936 brain disease ISO RGD:1344696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23345593 11856064 CNRIP1 cannabinoid receptor interacting protein 1 gene DOID:630 genetic disease ISO RGD:1318105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856074 KRT12 keratin 12 gene DOID:0060451 Meesmann corneal dystrophy ISO RGD:1312464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11856074 KRT12 keratin 12 gene DOID:0080670 Meesmann corneal dystrophy 1 ISO RGD:1312464 D RGD:7240710 20200429 OMIM 11856074 KRT12 keratin 12 gene DOID:0080670 Meesmann corneal dystrophy 1 ISO RGD:1312464 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, Meesmann, 1 PMID:10644419|PMID:22174841|PMID:25741868|PMID:28492532|PMID:9171831|PMID:9399908 11856074 KRT12 keratin 12 gene DOID:2566 corneal dystrophy susceptibility ISO RGD:1312464 D RGD:9068941 20200609 RGD protein:mutations: ; V143L, R135T; Meesmann's corneal dystrophy, OMIM:122100 PMID:9171831|REF_RGD_ID:1600169 11856074 KRT12 keratin 12 gene DOID:630 genetic disease ISO RGD:1312464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20577595|PMID:28492532 11856087 COLGALT2 collagen beta(1-O)galactosyltransferase 2 gene DOID:0080600 COVID-19 ISO RGD:1602008 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11856087 COLGALT2 collagen beta(1-O)galactosyltransferase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1602008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11856087 COLGALT2 collagen beta(1-O)galactosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1602008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856087 COLGALT2 collagen beta(1-O)galactosyltransferase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11856106 CSKMT citrate synthase lysine methyltransferase gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:2304141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:28492532 11856106 CSKMT citrate synthase lysine methyltransferase gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:2304141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11856106 CSKMT citrate synthase lysine methyltransferase gene DOID:1059 intellectual disability ISO RGD:2304141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11856106 CSKMT citrate synthase lysine methyltransferase gene DOID:630 genetic disease ISO RGD:2304141 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856114 CCT7 chaperonin containing TCP1 subunit 7 gene DOID:0050473 Alstrom syndrome ISO RGD:1315027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 11856114 CCT7 chaperonin containing TCP1 subunit 7 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1315027 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11856114 CCT7 chaperonin containing TCP1 subunit 7 gene DOID:12556 acute kidney tubular necrosis ISO RGD:1315027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31825490 11856114 CCT7 chaperonin containing TCP1 subunit 7 gene DOID:3021 acute kidney failure ISO RGD:1315027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31825490 11856114 CCT7 chaperonin containing TCP1 subunit 7 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1315027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11856114 CCT7 chaperonin containing TCP1 subunit 7 gene DOID:543 dystonia ISO RGD:1315027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11856114 CCT7 chaperonin containing TCP1 subunit 7 gene DOID:5844 myocardial infarction ISO RGD:1315027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1 PMID:24213632 11856114 CCT7 chaperonin containing TCP1 subunit 7 gene DOID:630 genetic disease ISO RGD:1315027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856114 CCT7 chaperonin containing TCP1 subunit 7 gene DOID:9000217 Stomach Neoplasms ISO RGD:1315027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11856114 CCT7 chaperonin containing TCP1 subunit 7 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1315027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11856114 CCT7 chaperonin containing TCP1 subunit 7 gene DOID:9000918 Disease Progression ISO RGD:1315027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11856140 RNPEPL1 arginyl aminopeptidase like 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1352195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11856140 RNPEPL1 arginyl aminopeptidase like 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1352195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11856140 RNPEPL1 arginyl aminopeptidase like 1 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1352195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 11856140 RNPEPL1 arginyl aminopeptidase like 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1352195 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11856140 RNPEPL1 arginyl aminopeptidase like 1 gene DOID:1059 intellectual disability ISO RGD:1352195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11856140 RNPEPL1 arginyl aminopeptidase like 1 gene DOID:630 genetic disease ISO RGD:1352195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856140 RNPEPL1 arginyl aminopeptidase like 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1352195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11856154 ZNF416 zinc finger protein 416 gene DOID:630 genetic disease ISO RGD:1346172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856213 ABHD10 abhydrolase domain containing 10, depalmitoylase gene DOID:630 genetic disease ISO RGD:1346003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856222 GJA5 gap junction protein alpha 5 gene DOID:0050650 familial atrial fibrillation ISO RGD:736164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial atrial fibrillation PMID:12522116|PMID:28492532 11856222 GJA5 gap junction protein alpha 5 gene DOID:0060041 autism spectrum disorder ISO RGD:736164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 11856222 GJA5 gap junction protein alpha 5 gene DOID:0060224 atrial fibrillation ISO RGD:736164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, somatic PMID:16790700 11856222 GJA5 gap junction protein alpha 5 gene DOID:0060411 chromosome 1q21.1 deletion syndrome ISO RGD:736164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome PMID:25741868|PMID:28492532 11856222 GJA5 gap junction protein alpha 5 gene DOID:0060435 chromosome 1q21.1 duplication syndrome ISO RGD:736164 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome 11856222 GJA5 gap junction protein alpha 5 gene DOID:0070355 overactive bladder syndrome ISO RGD:2692 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:17855776|REF_RGD_ID:7207474 11856222 GJA5 gap junction protein alpha 5 gene DOID:0080662 atrial standstill 1 ISO RGD:736164 D RGD:7240710 20180130 OMIM 11856222 GJA5 gap junction protein alpha 5 gene DOID:0080662 atrial standstill 1 ISO RGD:736164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial standstill 1 PMID:16790700|PMID:21921585|PMID:22199024|PMID:22713807|PMID:22912587|PMID:23348765|PMID:24060583|PMID:24144883|PMID:25205790|PMID:25741868|PMID:26137477|PMID:26279651|PMID:26503720|PMID:27930557|PMID:28074886|PMID:28398664|PMID:28457700|PMID:28492532|PMID:30847666|PMID:9588401 11856222 GJA5 gap junction protein alpha 5 gene DOID:0110231 cataract 1 multiple types ISO RGD:736164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 1 multiple types PMID:17601931|PMID:23720739|PMID:23772370|PMID:28492532 11856222 GJA5 gap junction protein alpha 5 gene DOID:10763 hypertension ISO RGD:2692 D RGD:9068941 20200609 RGD protein:decreased expression:artery endothelium PMID:11821709|REF_RGD_ID:7207848 11856222 GJA5 gap junction protein alpha 5 gene DOID:10763 hypertension ISO RGD:736164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19109587 11856222 GJA5 gap junction protein alpha 5 gene DOID:10763 hypertension treatment ISO RGD:2692 D RGD:9068941 20200609 RGD PMID:19686729|REF_RGD_ID:7207417 11856222 GJA5 gap junction protein alpha 5 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11856222 GJA5 gap junction protein alpha 5 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:736164 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:25741868|PMID:28492532 11856222 GJA5 gap junction protein alpha 5 gene DOID:1540 parathyroid carcinoma ISO RGD:736164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11856222 GJA5 gap junction protein alpha 5 gene DOID:1591 renovascular hypertension ISO RGD:2692 D RGD:9068941 20200609 RGD PMID:11422751|REF_RGD_ID:7207851 11856222 GJA5 gap junction protein alpha 5 gene DOID:2921 glomerulonephritis ISO RGD:2692 D RGD:9068941 20200609 RGD PMID:22945766|REF_RGD_ID:7207390 11856222 GJA5 gap junction protein alpha 5 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:736164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 11856222 GJA5 gap junction protein alpha 5 gene DOID:5199 ureteral obstruction ISO RGD:2692 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:12644912|REF_RGD_ID:7207847 11856222 GJA5 gap junction protein alpha 5 gene DOID:5419 schizophrenia ISO RGD:736164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11856222 GJA5 gap junction protein alpha 5 gene DOID:5844 myocardial infarction treatment ISO RGD:2692 D RGD:9068941 20200609 RGD PMID:29428663|REF_RGD_ID:13592597 11856222 GJA5 gap junction protein alpha 5 gene DOID:630 genetic disease ISO RGD:736164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11856222 GJA5 gap junction protein alpha 5 gene DOID:6419 tetralogy of Fallot ISO RGD:736164 D RGD:9068941 20200609 RGD DNA:duplications PMID:22199024|REF_RGD_ID:7207464 11856222 GJA5 gap junction protein alpha 5 gene DOID:6419 tetralogy of Fallot ISO RGD:736165 D RGD:9068941 20220825 MouseDO OMIM:187500 11856222 GJA5 gap junction protein alpha 5 gene DOID:9000998 Brain Injuries ISO RGD:2692 D RGD:9068941 20200609 RGD protein:increased expression:cerebral artery PMID:21895483|REF_RGD_ID:7207391 11856222 GJA5 gap junction protein alpha 5 gene DOID:9001708 Hemorrhagic Shock ISO RGD:2692 D RGD:9068941 20200609 RGD PMID:19077877|REF_RGD_ID:7207423 11856222 GJA5 gap junction protein alpha 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11856222 GJA5 gap junction protein alpha 5 gene DOID:9004484 Sepsis ISO RGD:2692 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta endothelium PMID:15942348|REF_RGD_ID:7207815 11856222 GJA5 gap junction protein alpha 5 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2692 D RGD:9068941 20200609 RGD PMID:20609064|REF_RGD_ID:7207415 11856222 GJA5 gap junction protein alpha 5 gene DOID:9008693 Familial Atrial Fibrillation 11 ISO RGD:736164 D RGD:7240710 20180130 OMIM 11856222 GJA5 gap junction protein alpha 5 gene DOID:9008693 Familial Atrial Fibrillation 11 ISO RGD:736164 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 11 PMID:16790700|PMID:20818502|PMID:23348765|PMID:24060583|PMID:24144883|PMID:25741868|PMID:26503720|PMID:28074886|PMID:28457700|PMID:28492532|PMID:30847666|PMID:9588401 11856222 GJA5 gap junction protein alpha 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11856222 GJA5 gap junction protein alpha 5 gene DOID:9970 obesity ISO RGD:2692 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:mesenteric artery PMID:18324386|REF_RGD_ID:7207466 11856233 ELSPBP1 epididymal sperm binding protein 1 gene DOID:630 genetic disease ISO RGD:1354263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856240 MBLAC2 metallo-beta-lactamase domain containing 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601715 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11856240 MBLAC2 metallo-beta-lactamase domain containing 2 gene DOID:630 genetic disease ISO RGD:1601715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856240 MBLAC2 metallo-beta-lactamase domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11856240 MBLAC2 metallo-beta-lactamase domain containing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601715 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11856246 FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:0110822 hereditary spastic paraplegia 77 ISO RGD:1342814 D RGD:7240710 20190315 OMIM 11856246 FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:0110822 hereditary spastic paraplegia 77 ISO RGD:1342814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 77 | ClinVar Annotator: match by term: Spastic paraplegia 77, autosomal recessive PMID:25741868|PMID:25851414|PMID:26553276|PMID:28492532|PMID:29126765|PMID:30177229|PMID:30869852|PMID:31665838|PMID:32007496|PMID:32989326|PMID:33168986|PMID:33972171 11856246 FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:0111476 combined oxidative phosphorylation deficiency 19 ISO RGD:1342814 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 19 PMID:25741868|PMID:28492532 11856246 FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:0111477 combined oxidative phosphorylation deficiency 14 ISO RGD:1342814 D RGD:7240710 20180130 OMIM 11856246 FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:0111477 combined oxidative phosphorylation deficiency 14 ISO RGD:1342814 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 PMID:16199547|PMID:17576681|PMID:22499341|PMID:22833457|PMID:24161539|PMID:25558065|PMID:25640679|PMID:25741868|PMID:25851414|PMID:26553276|PMID:27095821|PMID:27549011|PMID:27652284|PMID:28043061|PMID:28419689|PMID:28492532|PMID:29126765|PMID:29302074|PMID:30177229|PMID:30250868|PMID:30634555|PMID:30869852|PMID:31329004|PMID:31665838|PMID:31692161|PMID:32007496|PMID:32597768|PMID:32774346|PMID:32989326|PMID:33168986|PMID:33176815|PMID:33972171|PMID:9536098 11856246 FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:1059 intellectual disability ISO RGD:1342814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11856246 FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:5419 schizophrenia ISO RGD:1342814 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11856246 FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1342814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22833457|PMID:25741868|PMID:28419689|PMID:28492532|PMID:29126765|PMID:32007496|PMID:32989326 11856246 FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1342814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial encephalomyopathy PMID:22499341|PMID:22833457|PMID:25558065|PMID:25741868|PMID:28492532|PMID:30177229|PMID:30869852 11856246 FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:9008086 Developmental Disabilities ISO RGD:1342814 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22499341|PMID:22833457|PMID:25558065|PMID:25741868|PMID:28492532|PMID:30177229|PMID:30869852 11856263 JAML junction adhesion molecule like gene DOID:0060017 CD3epsilon deficiency ISO RGD:1344740 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11856263 JAML junction adhesion molecule like gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1344740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11856263 JAML junction adhesion molecule like gene DOID:0080690 RASopathy ISO RGD:1344740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11856263 JAML junction adhesion molecule like gene DOID:0081330 glycogen storage disease Ib ISO RGD:1344740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 11856263 JAML junction adhesion molecule like gene DOID:0110651 long QT syndrome 10 ISO RGD:1344740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11856263 JAML junction adhesion molecule like gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1344740 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11856263 JAML junction adhesion molecule like gene DOID:0111971 immunodeficiency 18 ISO RGD:1344740 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11856263 JAML junction adhesion molecule like gene DOID:0111972 immunodeficiency 19 ISO RGD:1344740 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11856263 JAML junction adhesion molecule like gene DOID:0111973 immunodeficiency 17 ISO RGD:1344740 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11856263 JAML junction adhesion molecule like gene DOID:1059 intellectual disability ISO RGD:1344740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11856263 JAML junction adhesion molecule like gene DOID:630 genetic disease ISO RGD:1344740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856263 JAML junction adhesion molecule like gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1344740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11856263 JAML junction adhesion molecule like gene DOID:9007661 Dwarfism ISO RGD:1344740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11856286 ARHGAP40 Rho GTPase activating protein 40 gene DOID:2234 focal epilepsy ISO RGD:1343259 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11856286 ARHGAP40 Rho GTPase activating protein 40 gene DOID:630 genetic disease ISO RGD:1343259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856309 CES2 carboxylesterase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:736535 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11856309 CES2 carboxylesterase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:736535 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11856309 CES2 carboxylesterase 2 gene DOID:0110255 cataract 5 multiple types ISO RGD:736535 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 11856309 CES2 carboxylesterase 2 gene DOID:630 genetic disease ISO RGD:736535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856309 CES2 carboxylesterase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736535 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 11856309 CES2 carboxylesterase 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:736535 D RGD:9068941 20200611 CTD CTD Direct Evidence: therapeutic PMID:19710369 11856309 CES2 carboxylesterase 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736535 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:19931604 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1349232 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:0050476 Barth syndrome ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability PMID:15351775|PMID:26605526|PMID:27247049|PMID:29618507|PMID:32043567 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:0050800 creatine transporter deficiency ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:0060040 pervasive developmental disorder ISO RGD:1349232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22231481 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:10854091|PMID:11055898|PMID:11738883|PMID:12111643|PMID:12966523|PMID:16473305|PMID:16690727|PMID:16844334|PMID:17089071|PMID:17387578|PMID:19652677|PMID:19914908|PMID:20151026|PMID:21982064|PMID:23921973|PMID:25741868|PMID:26984561|PMID:27799067|PMID:28492532 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349232 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913567|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12567420|PMID:12719401|PMID:12843318|PMID:12872250|PMID:12966523|PMID:14560307|PMID:14598336|PMID:14649554|PMID:15057977|PMID:15173251|PMID:15211631|PMID:15287421|PMID:15389714|PMID:15526954|PMID:15578581|PMID:15737703|PMID:15866439|PMID:16077729|PMID:16183801|PMID:16376510|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:16763963|PMID:16844334|PMID:16879196|PMID:16905679|PMID:17084570|PMID:17089071|PMID:17236109|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17383248|PMID:17387578|PMID:17427193|PMID:17576681|PMID:17881312|PMID:17914728|PMID:17986102|PMID:18174548|PMID:18174559|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18989701|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20116947|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20479760|PMID:20625242|PMID:20631224|PMID:20661168|PMID:21160487|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21764336|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22476991|PMID:22525432|PMID:22679399|PMID:2323808|PMID:23238081|PMID:23262346|PMID:23270700|PMID:23337872|PMID:23421866|PMID:23452848|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24033266|PMID:24328834|PMID:24399845|PMID:24511209|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25283752|PMID:25473036|PMID:25533962|PMID:25634563|PMID:25741868|PMID:26175308|PMID:26347316|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26647311|PMID:26984561|PMID:27247049|PMID:27255190|PMID:27465203|PMID:27761913|PMID:27781091|PMID:27799067|PMID:27929079|PMID:28089766|PMID:28135719|PMID:28257338|PMID:28394482|PMID:28492532|PMID:28831199|PMID:29141583|PMID:30405208|PMID:30564305|PMID:30788845|PMID:30868116|PMID:31690835|PMID:32393352|PMID:32581362|PMID:32860008|PMID:34837432|PMID:8177735|PMID:9536098 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type susceptibility ISO RGD:1349232 D RGD:7240710 20230517 OMIM 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:0060827 X-linked intellectual disability-psychosis-macroorchidism syndrome ISO RGD:1349232 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13 | ClinVar Annotator: match by term: X-linked intellectual disability-psychosis-macroorchidism syndrome PMID:10232754|PMID:10508514|PMID:1057790|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10986043|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11807877|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12161600|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12552569|PMID:12566531|PMID:12567420|PMID:12615169|PMID:12673788|PMID:12707946|PMID:12719401|PMID:12746405|PMID:12746406|PMID:12750821|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12966523|PMID:14560307|PMID:14598336|PMID:14649554|PMID:15057977|PMID:15173251|PMID:15211631|PMID:15287421|PMID:15389714|PMID:15526954|PMID:15557528|PMID:15558314|PMID:15578581|PMID:15689435|PMID:15718369|PMID:15737703|PMID:15866439|PMID:16077729|PMID:16080119|PMID:16122633|PMID:16183801|PMID:16376510|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:16708070|PMID:16763963|PMID:16832102|PMID:16844334|PMID:16879196|PMID:16905679|PMID:16966553|PMID:17084570|PMID:17089071|PMID:17101771|PMID:17142618|PMID:17171659|PMID:17236109|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17383248|PMID:17387578|PMID:17427193|PMID:17881312|PMID:17914728|PMID:17986102|PMID:18058624|PMID:18174548|PMID:18174559|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18562141|PMID:18678449|PMID:18842453|PMID:18989701|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20116947|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20479760|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20728410|PMID:21160487|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21764336|PMID:21831886|PMID:21878110|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22497713|PMID:22525432|PMID:22670143|PMID:22923521|PMID:2323808|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23337872|PMID:23421866|PMID:23452848|PMID:23488948|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23859859|PMID:23921973|PMID:24033266|PMID:24321989|PMID:24328834|PMID:24399845|PMID:24453408|PMID:24508304|PMID:24511209|PMID:24715477|PMID:24743294|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25283752|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25634563|PMID:25741868|PMID:26175308|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26490184|PMID:26647311|PMID:26741492|PMID:26755454|PMID:26795593|PMID:26842955|PMID:26936630|PMID:26984561|PMID:27255190|PMID:27465203|PMID:27781091|PMID:27799067|PMID:27929079|PMID:28135719|PMID:28250423|PMID:28394482|PMID:28492532|PMID:28831199|PMID:29482495|PMID:29655203|PMID:29720203|PMID:29961512|PMID:30081849|PMID:30083362|PMID:30536762|PMID:30564305|PMID:30573328|PMID:30673959|PMID:30868116|PMID:30945278|PMID:31138832|PMID:31958484|PMID:32214227|PMID:32393352|PMID:32472557|PMID:32581362|PMID:32860008|PMID:34324427|PMID:34837432|PMID:4413922|PMID:8177735|PMID:9038338|PMID:9377804|PMID:9546328 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:0060827 X-linked intellectual disability-psychosis-macroorchidism syndrome susceptibility ISO RGD:1349232 D RGD:7240710 20230517 OMIM 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations | ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:10232754|PMID:10508514|PMID:1057790|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10805343|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10986043|PMID:10991688|PMID:10991689|PMID:11005791|PMID:11007980|PMID:11035019|PMID:11055848|PMID:11055878|PMID:11055898|PMID:11058114|PMID:1105898|PMID:11071498|PMID:11106359|PMID:11180222|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11283202|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11453972|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738862|PMID:11738864|PMID:11738865|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11768391|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913564|PMID:11913567|PMID:1191367|PMID:11930274|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12161600|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12552569|PMID:12555243|PMID:12566531|PMID:12567420|PMID:12615169|PMID:12655490|PMID:12661945|PMID:12673788|PMID:12707062|PMID:12707946|PMID:12719401|PMID:12746405|PMID:12746406|PMID:12750821|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12884430|PMID:12966523|PMID:1402105|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14729826|PMID:14974082|PMID:14986829|PMID:15000811|PMID:15034579|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15211631|PMID:15228575|PMID:15287421|PMID:15351775|PMID:15389714|PMID:15492925|PMID:15526954|PMID:15557528|PMID:15578581|PMID:15675358|PMID:15689435|PMID:15689438|PMID:15712379|PMID:15718369|PMID:15737703|PMID:15857422|PMID:15866439|PMID:15875198|PMID:16077729|PMID:16077736|PMID:16080119|PMID:16122633|PMID:16155192|PMID:16182490|PMID:16183801|PMID:16199547|PMID:16225173|PMID:16376510|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:16708070|PMID:16763963|PMID:16832102|PMID:16844334|PMID:16879196|PMID:16905679|PMID:16965328|PMID:17084570|PMID:17088400|PMID:17089071|PMID:17101771|PMID:17142618|PMID:17172942|PMID:17236109|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17370310|PMID:17383248|PMID:17387578|PMID:17420824|PMID:17427193|PMID:17440498|PMID:17505203|PMID:17576681|PMID:17712354|PMID:17881312|PMID:17914728|PMID:17968969|PMID:17986102|PMID:18021529|PMID:18058624|PMID:18174548|PMID:18174559|PMID:18190595|PMID:18313390|PMID:18332345|PMID:18334558|PMID:18337588|PMID:18414213|PMID:18477000|PMID:18499664|PMID:18562141|PMID:18572337|PMID:18652533|PMID:18678449|PMID:18810657|PMID:18842453|PMID:18989701|PMID:19034540|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19365833|PMID:19371229|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19724012|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20108430|PMID:20116947|PMID:20142466|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20376788|PMID:20384458|PMID:20479760|PMID:20573179|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20728410|PMID:20815036|PMID:21154482|PMID:21160487|PMID:21178819|PMID:21212452|PMID:21228398|PMID:21300488|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21600714|PMID:21695138|PMID:21764336|PMID:21807996|PMID:21831886|PMID:21871116|PMID:21878110|PMID:21940684|PMID:21954873|PMID:21982064|PMID:22106023|PMID:22182064|PMID:22190343|PMID:22213695|PMID:22277191|PMID:22368975|PMID:22382802|PMID:22476991|PMID:22497713|PMID:22525432|PMID:22561697|PMID:22578097|PMID:22923521|PMID:23220634|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23337872|PMID:23421866|PMID:23452848|PMID:23488948|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23859859|PMID:23921973|PMID:23938294|PMID:24033266|PMID:24283265|PMID:24321989|PMID:24328834|PMID:24399845|PMID:24453408|PMID:24458799|PMID:24508304 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations | ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:24511209|PMID:2460487|PMID:24626160|PMID:24715477|PMID:24743294|PMID:24776741|PMID:24916645|PMID:24970834|PMID:25124696|PMID:25165434|PMID:25167861|PMID:25283752|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25541993|PMID:25634563|PMID:25640679|PMID:25741868|PMID:25927341|PMID:26175308|PMID:26254891|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26490184|PMID:26544843|PMID:26604147|PMID:26647311|PMID:26741492|PMID:26755454|PMID:26795593|PMID:26800272|PMID:26842955|PMID:26852508|PMID:26930212|PMID:26931468|PMID:26936630|PMID:26984561|PMID:27159028|PMID:27171548|PMID:27255190|PMID:27354166|PMID:27356039|PMID:27442528|PMID:27465203|PMID:27781091|PMID:27799067|PMID:27824329|PMID:27929079|PMID:28089766|PMID:28135719|PMID:28186668|PMID:28250423|PMID:28394409|PMID:28394482|PMID:28465761|PMID:28492532|PMID:28544139|PMID:28785396|PMID:28831199|PMID:28973632|PMID:29046627|PMID:29428920|PMID:29482495|PMID:29655203|PMID:29718204|PMID:29720203|PMID:30081849|PMID:30083362|PMID:30405208|PMID:30536762|PMID:30564305|PMID:30569584|PMID:30573328|PMID:30673959|PMID:30868116|PMID:30945278|PMID:31138832|PMID:31164858|PMID:31439979|PMID:31535341|PMID:31629770|PMID:31958484|PMID:32105570|PMID:32214227|PMID:32393352|PMID:32472557|PMID:32581362|PMID:32722525|PMID:32860008|PMID:34008892|PMID:34324427|PMID:4413922|PMID:5300597|PMID:8177735|PMID:9038338|PMID:9536098|PMID:9546328 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349232 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:10232754|PMID:10508514|PMID:1057790|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10805343|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10986043|PMID:10991688|PMID:10991689|PMID:11005791|PMID:11007980|PMID:11035019|PMID:11055848|PMID:11055878|PMID:11055898|PMID:11058114|PMID:1105898|PMID:11071498|PMID:11106359|PMID:11180222|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11283202|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11453972|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738862|PMID:11738864|PMID:11738865|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11768391|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913564|PMID:11913567|PMID:1191367|PMID:11930274|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12161600|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12552569|PMID:12555243|PMID:12566531|PMID:12567420|PMID:12615169|PMID:12655490|PMID:12661945|PMID:12673788|PMID:12707062|PMID:12707946|PMID:12719401|PMID:12746405|PMID:12746406|PMID:12750821|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12884430|PMID:12966523|PMID:1402105|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14729826|PMID:14974082|PMID:14986829|PMID:15000811|PMID:15034579|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15211631|PMID:15228575|PMID:15287421|PMID:15351775|PMID:15389714|PMID:15492925|PMID:15526954|PMID:15557528|PMID:15578581|PMID:15675358|PMID:15689435|PMID:15689438|PMID:15712379|PMID:15718369|PMID:15737703|PMID:15857422|PMID:15866439|PMID:15875198|PMID:16077729|PMID:16077736|PMID:16080119|PMID:16122633|PMID:16155192|PMID:16182490|PMID:16183801|PMID:16199547|PMID:16225173|PMID:16376510|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:16708070|PMID:16763963|PMID:16832102|PMID:16844334|PMID:16879196|PMID:16905679|PMID:16965328|PMID:17084570|PMID:17088400|PMID:17089071|PMID:17101771|PMID:17142618|PMID:17172942|PMID:17236109|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17370310|PMID:17383248|PMID:17387578|PMID:17420824|PMID:17427193|PMID:17440498|PMID:17505203|PMID:17576681|PMID:17712354|PMID:17881312|PMID:17914728|PMID:17968969|PMID:17986102|PMID:18021529|PMID:18047645|PMID:18058624|PMID:18174548|PMID:18174559|PMID:18190595|PMID:18313390|PMID:18332345|PMID:18334558|PMID:18337588|PMID:18414213|PMID:18477000|PMID:18499664|PMID:18562141|PMID:18572337|PMID:18652533|PMID:18678449|PMID:18810657|PMID:18842453|PMID:18989701|PMID:19034540|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19365833|PMID:19371229|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19724012|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20108430|PMID:20116947|PMID:20142466|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20376788|PMID:20384458|PMID:20479760|PMID:20573179|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20728410|PMID:20815036|PMID:21154482|PMID:21160487|PMID:21178819|PMID:21212452|PMID:21228398|PMID:21300488|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21600714|PMID:21695138|PMID:21764336|PMID:21807996|PMID:21831886|PMID:21871116|PMID:21878110|PMID:21940684|PMID:21954873|PMID:21982064|PMID:22106023|PMID:22182064|PMID:22190343|PMID:22213695|PMID:22277191|PMID:22368975|PMID:22382802|PMID:22476991|PMID:22497713|PMID:22525432|PMID:22561697|PMID:22578097|PMID:22659343|PMID:22679399|PMID:22923521|PMID:23220634|PMID:2323808|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23337872|PMID:23421866|PMID:23452848|PMID:23488948|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23859859|PMID:23921973|PMID:23938294|PMID:24033266|PMID:24283265|PMID:24321989|PMID:24328834 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349232 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:24399845|PMID:24453408|PMID:24458799|PMID:24508304|PMID:24511209|PMID:2460487|PMID:24626160|PMID:24715477|PMID:24743294|PMID:24776741|PMID:24916645|PMID:24970834|PMID:25124696|PMID:25165434|PMID:25167861|PMID:25283752|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25541993|PMID:25634563|PMID:25640679|PMID:25741868|PMID:25927341|PMID:26175308|PMID:26254891|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26490184|PMID:26544843|PMID:26604147|PMID:26647311|PMID:26741492|PMID:26755454|PMID:26795593|PMID:26800272|PMID:26842955|PMID:26852508|PMID:26930212|PMID:26931468|PMID:26936630|PMID:26984561|PMID:27159028|PMID:27171548|PMID:27255190|PMID:27354166|PMID:27356039|PMID:27442528|PMID:27465203|PMID:27781091|PMID:27799067|PMID:27824329|PMID:27929079|PMID:28089766|PMID:28135719|PMID:28186668|PMID:28250423|PMID:28394409|PMID:28394482|PMID:28465761|PMID:28492532|PMID:28544139|PMID:28785396|PMID:28831199|PMID:28973632|PMID:29046627|PMID:29428920|PMID:29482495|PMID:29655203|PMID:29718204|PMID:29720203|PMID:30081849|PMID:30083362|PMID:30405208|PMID:30536762|PMID:30564305|PMID:30569584|PMID:30573328|PMID:30673959|PMID:30868116|PMID:30945278|PMID:31138832|PMID:31164858|PMID:31206249|PMID:31439979|PMID:31535341|PMID:31602196|PMID:31629770|PMID:31958484|PMID:32105570|PMID:32214227|PMID:32393352|PMID:32472557|PMID:32581362|PMID:32722525|PMID:32860008|PMID:34008892|PMID:34324427|PMID:34837432|PMID:4413922|PMID:5300597|PMID:8177735|PMID:9038338|PMID:9536098|PMID:9546328 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation susceptibility ISO RGD:1349232 D RGD:7240710 20230517 OMIM 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:0112003 immunodeficiency 33 ISO RGD:1349232 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:10588 adrenoleukodystrophy ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12081725|PMID:12111643|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12418965|PMID:12552569|PMID:12567420|PMID:12673788|PMID:12707946|PMID:12746405|PMID:12746406|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12966523|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15228575|PMID:15389714|PMID:15526954|PMID:15558314|PMID:15737703|PMID:16077729|PMID:16122633|PMID:16183801|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:17084570|PMID:17089071|PMID:17276711|PMID:17341617|PMID:17387578|PMID:17505203|PMID:17986102|PMID:18174559|PMID:18332345|PMID:18334558|PMID:18414213|PMID:18562141|PMID:18652533|PMID:19189931|PMID:19234536|PMID:19309283|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20151026|PMID:20301670|PMID:20479760|PMID:20631224|PMID:21154482|PMID:21160487|PMID:21372149|PMID:21695138|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22525432|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23421866|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24283265|PMID:24328834|PMID:24399845|PMID:24511209|PMID:24626160|PMID:24743294|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25326635|PMID:25473036|PMID:25541993|PMID:25741868|PMID:26175308|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26647311|PMID:26936630|PMID:27465203|PMID:27929079|PMID:28394482|PMID:28492532|PMID:29720203|PMID:30536762|PMID:32214227|PMID:32581362|PMID:32860008|PMID:34008892|PMID:4413922|PMID:9038338 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1349232 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12081725|PMID:12111643|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12418965|PMID:12552569|PMID:12567420|PMID:12673788|PMID:12707946|PMID:12746405|PMID:12746406|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12966523|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15228575|PMID:15389714|PMID:15526954|PMID:15558314|PMID:15737703|PMID:16077729|PMID:16122633|PMID:16183801|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:17084570|PMID:17089071|PMID:17276711|PMID:17341617|PMID:17387578|PMID:17505203|PMID:17986102|PMID:18174559|PMID:18332345|PMID:18334558|PMID:18414213|PMID:18562141|PMID:18652533|PMID:19189931|PMID:19234536|PMID:19309283|PMID:19652677|PMID:19722030|PMID:20031356|PMID:20093853|PMID:20301670|PMID:20479760|PMID:20631224|PMID:21154482|PMID:21160487|PMID:21372149|PMID:21695138|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22525432|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23421866|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24283265|PMID:24328834|PMID:24399845|PMID:24511209|PMID:24626160|PMID:24743294|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25326635|PMID:25473036|PMID:25541993|PMID:25741868|PMID:26175308|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26647311|PMID:26936630|PMID:27465203|PMID:27929079|PMID:28394482|PMID:28492532|PMID:32214227|PMID:32581362|PMID:32860008|PMID:34008892|PMID:4413922|PMID:9038338 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1349232 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12081725|PMID:12111643|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12418965|PMID:12552569|PMID:12567420|PMID:12673788|PMID:12707946|PMID:12746405|PMID:12746406|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12966523|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15228575|PMID:15389714|PMID:15526954|PMID:15558314|PMID:15737703|PMID:16077729|PMID:16122633|PMID:16183801|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:17084570|PMID:17089071|PMID:17276711|PMID:17341617|PMID:17387578|PMID:17505203|PMID:17986102|PMID:18174559|PMID:18332345|PMID:18334558|PMID:18414213|PMID:18562141|PMID:18652533|PMID:19189931|PMID:19234536|PMID:19309283|PMID:19652677|PMID:19722030|PMID:20031356|PMID:20093853|PMID:20301670|PMID:20479760|PMID:20631224|PMID:21154482|PMID:21160487|PMID:21372149|PMID:21695138|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22525432|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23421866|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24283265|PMID:24328834|PMID:24399845|PMID:24511209|PMID:24626160|PMID:24743294|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25326635|PMID:25473036|PMID:25541993|PMID:25741868|PMID:26175308|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26647311|PMID:26936630|PMID:27465203|PMID:27781091|PMID:27929079|PMID:28394482|PMID:28492532|PMID:32214227|PMID:32581362|PMID:32860008|PMID:34008892|PMID:4413922|PMID:9038338 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1349232 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12081725|PMID:12111643|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12418965|PMID:12552569|PMID:12567420|PMID:12673788|PMID:12707946|PMID:12746405|PMID:12746406|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12966523|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15228575|PMID:15389714|PMID:15526954|PMID:15558314|PMID:15737703|PMID:16077729|PMID:16122633|PMID:16183801|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:17084570|PMID:17089071|PMID:17101771|PMID:17276711|PMID:17341617|PMID:17387578|PMID:17505203|PMID:17986102|PMID:18174559|PMID:18332345|PMID:18334558|PMID:18337588|PMID:18414213|PMID:18562141|PMID:18652533|PMID:19189931|PMID:19234536|PMID:19309283|PMID:19652677|PMID:19722030|PMID:20031356|PMID:20093853|PMID:20301670|PMID:20479760|PMID:20631224|PMID:21154482|PMID:21160487|PMID:21372149|PMID:21695138|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22525432|PMID:2323808|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23421866|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24283265|PMID:24328834|PMID:24399845|PMID:24511209|PMID:24626160|PMID:24743294|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25326635|PMID:25473036|PMID:25541993|PMID:25741868|PMID:26175308|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26647311|PMID:26795593|PMID:26936630|PMID:27465203|PMID:27781091|PMID:27929079|PMID:28394482|PMID:28492532|PMID:29720203|PMID:30536762|PMID:32214227|PMID:32393352|PMID:32472557|PMID:32581362|PMID:32860008|PMID:34008892|PMID:34324427|PMID:34837432|PMID:4413922|PMID:9038338 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:10907 microcephaly ISO RGD:1349232 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:11007980|PMID:11071498|PMID:11309367|PMID:11772708|PMID:11805248|PMID:11885030|PMID:12325019|PMID:12843318|PMID:14598336|PMID:20301670|PMID:21831886|PMID:24328834|PMID:25473036|PMID:25741868|PMID:26350204|PMID:26418480|PMID:27465203|PMID:27781091|PMID:27929079|PMID:28492532|PMID:32581362 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:10767337|PMID:12384770|PMID:12566531|PMID:12872250|PMID:16763963|PMID:18414213|PMID:28492532 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:11162 respiratory failure ISO RGD:1349232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19559301 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:11832 visual epilepsy ISO RGD:3075 D RGD:9068941 20220728 RGD mRNA:increased expression:dentate gyrus PMID:12123686|REF_RGD_ID:9587847 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:1206 Rett syndrome ISO RGD:1349232 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rett syndrome | ClinVar Annotator: match by term: Rett's disorder PMID:10508514|PMID:1057790|PMID:10577905|PMID:10737989|PMID:10745042|PMID:10767337|PMID:10805343|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10986043|PMID:10991688|PMID:10991689|PMID:11005791|PMID:11007980|PMID:11022934|PMID:11035019|PMID:11055848|PMID:11055878|PMID:11055898|PMID:11058114|PMID:1105898|PMID:11071498|PMID:11106359|PMID:11180222|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11283202|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11453972|PMID:11462237|PMID:11469283|PMID:11524737|PMID:11524741|PMID:11738860|PMID:11738862|PMID:11738864|PMID:11738865|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11768391|PMID:11772708|PMID:11805248|PMID:11807877|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913564|PMID:11913567|PMID:1191367|PMID:11930274|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081720|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12161600|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12481990|PMID:12552569|PMID:12567420|PMID:12615169|PMID:12655490|PMID:12661945|PMID:12673788|PMID:12707062|PMID:12707946|PMID:12719401|PMID:12746405|PMID:12746406|PMID:12750821|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12884430|PMID:12966522|PMID:12966523|PMID:1402105|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14729826|PMID:14974082|PMID:14986829|PMID:15000811|PMID:15034579|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15211631|PMID:15228575|PMID:15241799|PMID:15287421|PMID:15389714|PMID:15526954|PMID:15557528|PMID:15578581|PMID:15675358|PMID:15689438|PMID:15691364|PMID:15712379|PMID:15718369|PMID:15737703|PMID:15841480|PMID:15857422|PMID:15866439|PMID:15875198|PMID:16077729|PMID:16077736|PMID:16080119|PMID:16122633|PMID:16155192|PMID:16182490|PMID:16183801|PMID:16199547|PMID:16225173|PMID:16376510|PMID:16473305|PMID:16629931|PMID:16630165|PMID:16672765|PMID:16690727|PMID:16708070|PMID:16763963|PMID:16829352|PMID:16832102|PMID:16844334|PMID:16879196|PMID:16905679|PMID:16965328|PMID:16966553|PMID:17026625|PMID:17084570|PMID:17089071|PMID:17101771|PMID:17142618|PMID:17236109|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17370310|PMID:17383248|PMID:17387578|PMID:17420824|PMID:17427193|PMID:17440498|PMID:17505203|PMID:17576681|PMID:17881312|PMID:17914728|PMID:17968969|PMID:17986102|PMID:18021529|PMID:18058624|PMID:18174548|PMID:18174559|PMID:18190595|PMID:18313390|PMID:18332345|PMID:18334558|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18562141|PMID:18652533|PMID:18678449|PMID:18688080|PMID:18842453|PMID:18989701|PMID:19034540|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19365833|PMID:19371229|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19724012|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20108430|PMID:20116947|PMID:20142466|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20376788|PMID:20384458|PMID:20479760|PMID:20573179|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20728410|PMID:20815036|PMID:21154482|PMID:21160487|PMID:21178819|PMID:21212452|PMID:21228398|PMID:21300488|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21600714|PMID:21695138|PMID:21764336|PMID:21807996|PMID:21812101|PMID:21831886|PMID:21871116|PMID:21878110|PMID:21940684|PMID:21954873|PMID:21982064|PMID:22001500|PMID:22106023|PMID:22182064|PMID:22190343|PMID:22213695|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22497713|PMID:22525432|PMID:22561697|PMID:22923521|PMID:2323808|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23337872|PMID:23352163|PMID:23421866|PMID:23452848|PMID:23488948|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23859859|PMID:23866855|PMID:23921973|PMID:24033266|PMID:24283265|PMID:24321989|PMID:24328834 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:1206 Rett syndrome ISO RGD:1349232 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Rett syndrome | ClinVar Annotator: match by term: Rett's disorder PMID:24399845|PMID:24453408|PMID:24508304|PMID:24511209|PMID:2460487|PMID:24626160|PMID:24715477|PMID:24743294|PMID:24776741|PMID:24916645|PMID:24970834|PMID:25124696|PMID:25167861|PMID:25283752|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25541993|PMID:25590979|PMID:25634563|PMID:25741868|PMID:25927341|PMID:26175308|PMID:26254891|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26490184|PMID:26544843|PMID:26604147|PMID:26647311|PMID:26741492|PMID:26755454|PMID:26795593|PMID:26800272|PMID:26842955|PMID:26931468|PMID:26936630|PMID:26984561|PMID:27159028|PMID:27255190|PMID:27354166|PMID:27356039|PMID:27442528|PMID:27465203|PMID:27781091|PMID:27799067|PMID:27824329|PMID:27929079|PMID:28135719|PMID:28250423|PMID:28394482|PMID:28397838|PMID:28465761|PMID:28492532|PMID:28544139|PMID:28785396|PMID:28831199|PMID:28973632|PMID:29046627|PMID:29482495|PMID:29655203|PMID:29718204|PMID:29720203|PMID:29961512|PMID:30081849|PMID:30083362|PMID:30536762|PMID:30564305|PMID:30569584|PMID:30573328|PMID:30673959|PMID:30868116|PMID:30945278|PMID:31138832|PMID:31164858|PMID:31206249|PMID:31439979|PMID:31535341|PMID:31629770|PMID:31958484|PMID:32105570|PMID:32214227|PMID:32393352|PMID:32472557|PMID:32581362|PMID:32860008|PMID:34008892|PMID:34324427|PMID:34837432|PMID:4413922|PMID:5300597|PMID:8166633|PMID:8177735|PMID:9038338|PMID:9377804|PMID:9536098|PMID:9546328 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:1206 Rett syndrome susceptibility ISO RGD:1349232 D RGD:7240710 20230517 OMIM 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:12849 autistic disorder ISO RGD:1349232 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 3 PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:1105898|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738865|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913567|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12566531|PMID:12567420|PMID:12673788|PMID:12719401|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12966523|PMID:1402105|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14729826|PMID:15057977|PMID:15173251|PMID:15211631|PMID:15287421|PMID:15389714|PMID:15526954|PMID:15578581|PMID:15737703|PMID:15866439|PMID:16077729|PMID:16183801|PMID:16376510|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:16763963|PMID:16844334|PMID:16879196|PMID:16905679|PMID:17084570|PMID:17089071|PMID:17142618|PMID:17236109|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17383248|PMID:17387578|PMID:17420824|PMID:17427193|PMID:17881312|PMID:17914728|PMID:17986102|PMID:18174548|PMID:18174559|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18989701|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20116947|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20479760|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20815036|PMID:21160487|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21600714|PMID:21681106|PMID:21764336|PMID:21831886|PMID:21878110|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22476991|PMID:22525432|PMID:2323808|PMID:23238081|PMID:23262346|PMID:23270700|PMID:23337872|PMID:23352163|PMID:23421866|PMID:23452848|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24033266|PMID:24328834|PMID:24399845|PMID:24511209|PMID:24715477|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25283752|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25634563|PMID:25741868|PMID:26175308|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26604147|PMID:26647311|PMID:26800272|PMID:26842955|PMID:26936630|PMID:26984561|PMID:27159028|PMID:27255190|PMID:27442528|PMID:27465203|PMID:27781091|PMID:27799067|PMID:27929079|PMID:28135719|PMID:28394482|PMID:28465761|PMID:28492532|PMID:28785396|PMID:28831199|PMID:29046627|PMID:29655203|PMID:29720203|PMID:30208311|PMID:30536762|PMID:30564305|PMID:30868116|PMID:31535341|PMID:31958484|PMID:32214227|PMID:32393352|PMID:32581362|PMID:32860008|PMID:34837432|PMID:8177735|PMID:9038338 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:12849 autistic disorder susceptibility ISO RGD:1349232 D RGD:7240710 20230517 OMIM 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:13628 favism ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:1826 epilepsy ISO RGD:1349232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:10767337|PMID:10854091|PMID:11245712|PMID:11524741|PMID:12075485|PMID:12111643|PMID:12180070|PMID:12615169|PMID:16473305|PMID:16690727|PMID:17089071|PMID:17142618|PMID:17387578|PMID:18174559|PMID:19914908|PMID:20151026|PMID:20301670|PMID:21160487|PMID:21954873|PMID:21982064|PMID:22277191|PMID:25741868|PMID:28492532 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:1932 Angelman syndrome ISO RGD:1349232 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angelman syndrome | ClinVar Annotator: match by term: HAPPY PUPPET SYNDROME PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11022934|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11214906|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283202|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12065946|PMID:12081725|PMID:12111643|PMID:12180070|PMID:12210319|PMID:12325033|PMID:12418965|PMID:12552569|PMID:12567420|PMID:12655490|PMID:12673788|PMID:12707946|PMID:12719401|PMID:12746406|PMID:12843318|PMID:12872250|PMID:12966523|PMID:14560307|PMID:14649554|PMID:15057977|PMID:15173251|PMID:15389714|PMID:15526954|PMID:15737703|PMID:15866439|PMID:16122633|PMID:16183801|PMID:16225173|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:16905679|PMID:17089071|PMID:17101771|PMID:17236109|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17387578|PMID:17881312|PMID:17986102|PMID:18174548|PMID:18174559|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18562141|PMID:18989701|PMID:19133691|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19371229|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20116947|PMID:20231667|PMID:20301670|PMID:20631224|PMID:20661168|PMID:21160487|PMID:21372149|PMID:21420494|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22525432|PMID:22561697|PMID:2323808|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23421866|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24511209|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25533962|PMID:25741868|PMID:25927341|PMID:26175308|PMID:26418480|PMID:26467025|PMID:26647311|PMID:26795593|PMID:27929079|PMID:28135719|PMID:28394482|PMID:28492532|PMID:30536762|PMID:30564305|PMID:30868116|PMID:31439979|PMID:32393352|PMID:32472557|PMID:32860008|PMID:34324427|PMID:34837432|PMID:4413922|PMID:8177735 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:2030 anxiety disorder ISO RGD:1349232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22231481 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:2234 focal epilepsy ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal epilepsy PMID:25741868 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:224 transient cerebral ischemia ISO RGD:3075 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:12421618|REF_RGD_ID:9587846 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:2303 stereotypic movement disorder ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stereotypic movement disorder PMID:15737703|PMID:25741868 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1349232 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:2846 bruxism ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bruxism PMID:15737703|PMID:25741868 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1349232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21435439 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:5419 schizophrenia ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:20479760 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:607 paraplegia ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:630 genetic disease ISO RGD:1349232 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10508514|PMID:1057790|PMID:10577905|PMID:10737989|PMID:10745042|PMID:10767337|PMID:10805343|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11005791|PMID:11007980|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:1105898|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11227330|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11283202|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738865|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081720|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12161600|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12552569|PMID:12566531|PMID:12567420|PMID:12615169|PMID:12655490|PMID:12661945|PMID:12673788|PMID:12707062|PMID:12707946|PMID:12719401|PMID:12746405|PMID:12746406|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12884430|PMID:12966523|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14729826|PMID:14986829|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15211631|PMID:15228575|PMID:15287421|PMID:15389714|PMID:15492925|PMID:15526954|PMID:15557528|PMID:15558314|PMID:15578581|PMID:15718369|PMID:15737703|PMID:15866439|PMID:15875198|PMID:16077729|PMID:16077736|PMID:16122633|PMID:16169931|PMID:16182490|PMID:16183801|PMID:16225173|PMID:16376510|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:16708070|PMID:16763963|PMID:16832102|PMID:16844334|PMID:16879196|PMID:16905679|PMID:17084570|PMID:17089071|PMID:17101771|PMID:17142618|PMID:17236109|PMID:17267601|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17383248|PMID:17387578|PMID:17420824|PMID:17427193|PMID:17505203|PMID:17576681|PMID:17881312|PMID:17914728|PMID:17986102|PMID:18058624|PMID:18174548|PMID:18174559|PMID:18190595|PMID:18313390|PMID:18332345|PMID:18334558|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18562141|PMID:18652533|PMID:18842453|PMID:18989701|PMID:19133691|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19724012|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20116947|PMID:20142466|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20384458|PMID:20405910|PMID:20479760|PMID:20573179|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20728410|PMID:20815036|PMID:21154482|PMID:21160487|PMID:21178819|PMID:21228398|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21695138|PMID:21764336|PMID:21831886|PMID:21940684|PMID:21954873|PMID:21982064|PMID:22106023|PMID:22182064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22497713|PMID:22525432|PMID:22561697|PMID:22923521|PMID:2323808|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23337872|PMID:23421866|PMID:23452848|PMID:23488948|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23859859|PMID:23921973|PMID:23938294|PMID:24033266|PMID:24283265|PMID:24328834|PMID:24399845|PMID:24453408|PMID:24458799|PMID:24508304|PMID:24511209|PMID:2460487|PMID:24626160|PMID:24715477|PMID:24743294|PMID:24916645|PMID:24970834|PMID:25124696|PMID:25165434|PMID:25167861|PMID:25283752|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25541993|PMID:25634563|PMID:25741868|PMID:25927341|PMID:26064184|PMID:26175308|PMID:26254891|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26490184|PMID:26604147|PMID:26647311|PMID:26741492|PMID:26755454|PMID:26795593|PMID:26800272|PMID:26936630|PMID:26984561|PMID:27159028|PMID:27255190|PMID:27354166|PMID:27356039|PMID:27442528|PMID:27465203|PMID:27781091|PMID:27799067|PMID:27929079|PMID:28135719|PMID:28186668|PMID:28250423|PMID:28394409 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:630 genetic disease ISO RGD:1349232 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28394482|PMID:28465761|PMID:28492532|PMID:28498846|PMID:28544139|PMID:28785396|PMID:28831199|PMID:29046627|PMID:29482495|PMID:29655203|PMID:29720203|PMID:30081849|PMID:30083362|PMID:30536762|PMID:30564305|PMID:30573328|PMID:30673959|PMID:30868116|PMID:30945278|PMID:31138832|PMID:31164858|PMID:31535341|PMID:31958484|PMID:32214227|PMID:32393352|PMID:32472557|PMID:32581362|PMID:32860008|PMID:34008892|PMID:34324427|PMID:34837432|PMID:4413922|PMID:5300597|PMID:8166633|PMID:8177735|PMID:9038338|PMID:9536098|PMID:9546328 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1349232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26189965 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:3075 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:11844796|REF_RGD_ID:2289670 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:77 gastrointestinal system disease susceptibility ISO RGD:1349232 D RGD:9068941 20200609 RGD associated with Rett Syndrome;DNA:mutations:multiple (human) PMID:22331013|REF_RGD_ID:12790976 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:8927 learning disability ISO RGD:1349232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19921286 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:9001325 Rett Syndrome, Atypical ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:10508514|PMID:10854091|PMID:11035019|PMID:11055898|PMID:11269512|PMID:11283202|PMID:11313756|PMID:11524741|PMID:11738883|PMID:12180070|PMID:15737703|PMID:17089071|PMID:17387578|PMID:19914908|PMID:25741868|PMID:25927341|PMID:28492532 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:9002211 Hyperalgesia ISO RGD:1349232 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33010341 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3075 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:hippocampus: PMID:16380407|REF_RGD_ID:9588242 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:9002720 Splenomegaly ISO RGD:1349232 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:10767337|PMID:10991688|PMID:11007980|PMID:11055848|PMID:11055898|PMID:11071498|PMID:11309367|PMID:11772708|PMID:11805248|PMID:11885030|PMID:12325019|PMID:12843318|PMID:14598336|PMID:14649554|PMID:15057977|PMID:16473305|PMID:18414213|PMID:20301670|PMID:21831886|PMID:23696494|PMID:23770565|PMID:23921973|PMID:24328834|PMID:24511209|PMID:24970834|PMID:25473036|PMID:25741868|PMID:26350204|PMID:26418480|PMID:27465203|PMID:27781091|PMID:27929079|PMID:28492532|PMID:32581362 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:9004536 Rett Syndrome, Zappella Variant ISO RGD:1349232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rett syndrome, zappella variant PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10852707|PMID:10854091|PMID:10991688|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:11106359|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11309679|PMID:11313756|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12111643|PMID:12180070|PMID:12325033|PMID:12552569|PMID:12567420|PMID:12673788|PMID:12707946|PMID:12746406|PMID:12770674|PMID:12843318|PMID:12966523|PMID:14560307|PMID:15057977|PMID:15173251|PMID:15389714|PMID:15526954|PMID:15737703|PMID:16122633|PMID:16473305|PMID:16690727|PMID:16763963|PMID:16844334|PMID:17089071|PMID:17101771|PMID:17142618|PMID:17341617|PMID:17387578|PMID:17986102|PMID:18332345|PMID:18414213|PMID:18562141|PMID:18989701|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20151026|PMID:20301670|PMID:21160487|PMID:21831886|PMID:21878110|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:23260135|PMID:23262346|PMID:23421866|PMID:23696494|PMID:23810759|PMID:23921973|PMID:25741868|PMID:26175308|PMID:26418480|PMID:26467025|PMID:26647311|PMID:26795593|PMID:26842955|PMID:26984561|PMID:27799067|PMID:27929079|PMID:28394482|PMID:28492532|PMID:29655203|PMID:30536762|PMID:32472557|PMID:34324427|PMID:4413922 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:9004538 Hearing Loss ISO RGD:1349232 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:11007980|PMID:11071498|PMID:11309367|PMID:11772708|PMID:11805248|PMID:11885030|PMID:12325019|PMID:12843318|PMID:14598336|PMID:20301670|PMID:21831886|PMID:24328834|PMID:25473036|PMID:25741868|PMID:26350204|PMID:26418480|PMID:27465203|PMID:27781091|PMID:27929079|PMID:28492532|PMID:32581362 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:15689435|PMID:16080119|PMID:28492532 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:1349232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19559301 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:9005616 Micrognathism ISO RGD:1349232 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:11007980|PMID:11071498|PMID:11309367|PMID:11772708|PMID:11805248|PMID:11885030|PMID:12325019|PMID:12843318|PMID:14598336|PMID:20301670|PMID:21831886|PMID:24328834|PMID:25473036|PMID:25741868|PMID:26350204|PMID:26418480|PMID:27465203|PMID:27781091|PMID:27929079|PMID:28492532|PMID:32581362 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1349232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20711185 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:9005632 Cocaine-Related Disorders treatment ISO RGD:3075 D RGD:9068941 20200609 RGD PMID:20711185|REF_RGD_ID:12789445 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1349232 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.E137G, p.R167W (human) PMID:11309367|REF_RGD_ID:1601320 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:9006205 Animal Disease Models ISO RGD:1349232 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:28592917|PMID:33010341 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11913567|PMID:11960578|PMID:12065946|PMID:12111643|PMID:12180070|PMID:12325033|PMID:1241840|PMID:12567420|PMID:12719401|PMID:12843318|PMID:12872250|PMID:12966523|PMID:14560307|PMID:15057977|PMID:15173251|PMID:15389714|PMID:15526954|PMID:15737703|PMID:15866439|PMID:16183801|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16763963|PMID:16905679|PMID:17089071|PMID:17236109|PMID:17341617|PMID:17351020|PMID:17387578|PMID:17881312|PMID:17986102|PMID:18174548|PMID:18174559|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18989701|PMID:19133691|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20116947|PMID:20231667|PMID:20301670|PMID:20631224|PMID:20661168|PMID:21160487|PMID:21420494|PMID:21575601|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22476991|PMID:22525432|PMID:23238081|PMID:23262346|PMID:23270700|PMID:23421866|PMID:23696494|PMID:23810759|PMID:23921973|PMID:25533962|PMID:25634563|PMID:25741868|PMID:26467025|PMID:26647311|PMID:28135719|PMID:28492532|PMID:30564305|PMID:30868116|PMID:8177735 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:9007722 Myoclonus ISO RGD:1349232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19559301 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10854091|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:11106359|PMID:11214906|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11738860|PMID:11738864|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11913567|PMID:11960578|PMID:12081725|PMID:12111643|PMID:12180070|PMID:12325033|PMID:12746405|PMID:12872250|PMID:12872251|PMID:14536082|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15228575|PMID:15389714|PMID:15526954|PMID:15737703|PMID:16077729|PMID:16183801|PMID:16473305|PMID:16629931|PMID:16672765|PMID:17089071|PMID:17341617|PMID:17387578|PMID:17505203|PMID:17986102|PMID:18334558|PMID:18652533|PMID:19722030|PMID:20031356|PMID:20301670|PMID:20631224|PMID:21154482|PMID:21160487|PMID:21695138|PMID:21982064|PMID:22277191|PMID:23238081|PMID:23262346|PMID:23270700|PMID:24283265|PMID:24399845|PMID:24511209|PMID:24626160|PMID:25167861|PMID:25541993|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34008892 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:9008514 Psychomotor Disorders ISO RGD:1349232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098342 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:9008582 Developmental Disease ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:28492532 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:9008689 Facial Hypertrichosis ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Facial hypertrichosis PMID:32581362 11856336 MECP2 methyl-CpG binding protein 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1349232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19559301 11856343 WDR70 WD repeat domain 70 gene DOID:630 genetic disease ISO RGD:1605675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856343 WDR70 WD repeat domain 70 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11856343 WDR70 WD repeat domain 70 gene DOID:9008086 Developmental Disabilities ISO RGD:1605675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11856358 RAB8B RAB8B, member RAS oncogene family gene DOID:0110935 nemaline myopathy 6 ISO RGD:1350755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11856358 RAB8B RAB8B, member RAS oncogene family gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1350755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 11856358 RAB8B RAB8B, member RAS oncogene family gene DOID:2717 Bloom syndrome ISO RGD:1350755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11856358 RAB8B RAB8B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1350755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856358 RAB8B RAB8B, member RAS oncogene family gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350755 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11856358 RAB8B RAB8B, member RAS oncogene family gene DOID:9256 colorectal cancer ISO RGD:1350755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11856375 EOLA1 endothelium and lymphocyte associated ASCH domain 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344025 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11856375 EOLA1 endothelium and lymphocyte associated ASCH domain 1 gene DOID:12849 autistic disorder ISO RGD:1344025 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:20890277|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:0050451 Brugada syndrome ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:0050650 familial atrial fibrillation ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial atrial fibrillation PMID:24033266|PMID:25741868|PMID:28492532 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:0050700 cardiomyopathy ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12166651|PMID:16563363|PMID:17245405|PMID:17576681|PMID:18239147|PMID:20474083|PMID:21846889|PMID:23103869|PMID:23739550|PMID:23861362|PMID:24033266|PMID:24439875|PMID:24503780|PMID:25333069|PMID:25741868|PMID:26636822|PMID:26656175|PMID:26764160|PMID:28087566|PMID:28166811|PMID:28492532|PMID:29030401|PMID:9536098 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:0050700 cardiomyopathy ISO RGD:735726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12166651|PMID:16563363|PMID:17245405|PMID:17576681|PMID:18239147|PMID:20474083|PMID:21846889|PMID:23103869|PMID:23739550|PMID:23861362|PMID:24033266|PMID:24439875|PMID:24503780|PMID:25333069|PMID:25741868|PMID:25979592|PMID:26498160|PMID:26636822|PMID:26656175|PMID:26764160|PMID:28087566|PMID:28166811|PMID:28492532|PMID:29030401|PMID:32746448|PMID:9536098 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:735726 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:21344641|PMID:22610116|PMID:23307537|PMID:25590979|PMID:25741868|PMID:27247394|PMID:27316244|PMID:28492532 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type ISO RGD:735726 D RGD:7240710 20180130 OMIM 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type ISO RGD:735726 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type PMID:10398267|PMID:15034580|PMID:16199547|PMID:16835932|PMID:17576681|PMID:18414213|PMID:20474083|PMID:20890277|PMID:21344641|PMID:22608503|PMID:22610116|PMID:23307537|PMID:23861362|PMID:24033266|PMID:24352916|PMID:24439875|PMID:24503780|PMID:25326635|PMID:25590979|PMID:25741868|PMID:25790160|PMID:25979592|PMID:26112015|PMID:26498160|PMID:26656175|PMID:26871653|PMID:26938784|PMID:27247394|PMID:27316244|PMID:27532257|PMID:27707468|PMID:28492532|PMID:29016939|PMID:30177324|PMID:30662450|PMID:30821013|PMID:30847666|PMID:31130284|PMID:31828977|PMID:31907964|PMID:31983221|PMID:32622958|PMID:32746448|PMID:33500567|PMID:9536098 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:0080855 Parkinsonism ISO RGD:3787 D RGD:9068941 20200609 RGD PMID:15857625|REF_RGD_ID:1598645 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:735726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:24033266|PMID:24439875|PMID:25741868|PMID:27532257|PMID:28492532 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:28492532 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:735726 D RGD:7240710 20180130 OMIM 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:735726 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH VENTRICULAR TACHYCARDIA | ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:12166651|PMID:15034580|PMID:1575858|PMID:16199547|PMID:16563363|PMID:16835932|PMID:17245405|PMID:17576681|PMID:18239147|PMID:19763152|PMID:20307669|PMID:20474083|PMID:20890277|PMID:21344641|PMID:21846889|PMID:22406018|PMID:22608503|PMID:22610116|PMID:23103869|PMID:23307537|PMID:23739550|PMID:23861362|PMID:24033266|PMID:24352916|PMID:24439875|PMID:24503780|PMID:25326635|PMID:25333069|PMID:25341504|PMID:25590979|PMID:25741868|PMID:25790160|PMID:25979592|PMID:26112015|PMID:26498160|PMID:26636822|PMID:26656175|PMID:26764160|PMID:26871653|PMID:27101133|PMID:27247394|PMID:27316244|PMID:27532257|PMID:27707468|PMID:28087566|PMID:28166811|PMID:28492532|PMID:28798025|PMID:29016939|PMID:29030401|PMID:29275331|PMID:30029678|PMID:30177324|PMID:30269836|PMID:30662066|PMID:30662450|PMID:30821013|PMID:30847666|PMID:30878466|PMID:30975432|PMID:31130284|PMID:31575858|PMID:31828977|PMID:31907964|PMID:31983221|PMID:32344918|PMID:32622958|PMID:32746448|PMID:32969603|PMID:33500567|PMID:9536098 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:10763 hypertension ISO RGD:3787 D RGD:9068941 20200609 RGD PMID:15964031|REF_RGD_ID:1598644 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:10763 hypertension ISO RGD:3787 D RGD:9068941 20200609 RGD protein:decreased expression:aorta PMID:18471810|REF_RGD_ID:2301909 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:11446 sciatic neuropathy ISO RGD:3787 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:21907492|REF_RGD_ID:12791994 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17245405|PMID:25741868|PMID:28492532 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:12930 dilated cardiomyopathy ISO RGD:735726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12166651|PMID:20474083|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:735726 D RGD:9068941 20200609 RGD PMID:15034580|REF_RGD_ID:1300328 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:13832 patent ductus arteriosus ISO RGD:735726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Patency of the ductus arteriosus PMID:22608503|PMID:22610116|PMID:23307537|PMID:25741868|PMID:25790160|PMID:26656175|PMID:26871653|PMID:28492532 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:2843 long QT syndrome ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prolonged QT interval 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:289 endometriosis ISO RGD:735726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:3007 breast ductal carcinoma ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:5844 myocardial infarction ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myocardial infarction PMID:16563363|PMID:18239147|PMID:20474083|PMID:21846889|PMID:23739550|PMID:23861362|PMID:24033266|PMID:24439875|PMID:25333069|PMID:25741868|PMID:26636822|PMID:26656175|PMID:26764160|PMID:28492532 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:630 genetic disease ISO RGD:735726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31828977 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:9000176 INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME ISO RGD:735726 D RGD:7240710 20220323 OMIM 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:9000176 INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME ISO RGD:735726 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Intellectual disability and myopathy syndrome PMID:1575858|PMID:17576681|PMID:24033266|PMID:24439875|PMID:25741868|PMID:26112015|PMID:28492532|PMID:29016939|PMID:30177324|PMID:30662450|PMID:30821013|PMID:31130284|PMID:31575858|PMID:32622958|PMID:33500567|PMID:9536098 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:9000184 Ventricular Fibrillation ISO RGD:3787 D RGD:9068941 20200609 RGD PMID:15115899|REF_RGD_ID:1598647 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:735726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:28492532 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:9002065 Familial Atrial Fibrillation 12 ISO RGD:735726 D RGD:7240710 20180130 OMIM 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:9002065 Familial Atrial Fibrillation 12 ISO RGD:735726 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 12 PMID:17245405|PMID:17576681|PMID:24033266|PMID:24439875|PMID:25741868|PMID:26112015|PMID:28492532|PMID:29016939|PMID:30177324|PMID:30662450|PMID:30821013|PMID:31130284|PMID:32622958|PMID:33500567|PMID:9536098 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:9003163 Heart Block ISO RGD:735726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:28492532 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:9003816 Macrocephaly ISO RGD:735726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:22608503|PMID:22610116|PMID:23307537|PMID:25741868|PMID:25790160|PMID:26656175|PMID:26871653|PMID:28492532 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:735726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:22608503|PMID:22610116|PMID:23307537|PMID:25741868|PMID:25790160|PMID:26656175|PMID:26871653|PMID:28492532 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:9005077 Joint Instability ISO RGD:735726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:22608503|PMID:22610116|PMID:23307537|PMID:25741868|PMID:25790160|PMID:26656175|PMID:26871653|PMID:28492532 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:9005141 Ventricular Tachycardia ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:16563363|PMID:18239147|PMID:20474083|PMID:21846889|PMID:23739550|PMID:23861362|PMID:24033266|PMID:24439875|PMID:25333069|PMID:25741868|PMID:26636822|PMID:26656175|PMID:26764160|PMID:28492532 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:9005616 Micrognathism ISO RGD:735726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:22608503|PMID:22610116|PMID:23307537|PMID:25741868|PMID:25790160|PMID:26656175|PMID:26871653|PMID:28492532 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3787 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart PMID:22257425|REF_RGD_ID:12792003 11856376 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:9007715 Endometrial Neoplasms ISO RGD:735726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 11856432 UBA52 ubiquitin A-52 residue ribosomal protein fusion product 1 gene DOID:1520 colon carcinoma ISO RGD:68482 D RGD:9068941 20200609 RGD mRNA:increased expression:colonic mucosa (human) PMID:8541345|REF_RGD_ID:11352739 11856432 UBA52 ubiquitin A-52 residue ribosomal protein fusion product 1 gene DOID:630 genetic disease ISO RGD:68482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856432 UBA52 ubiquitin A-52 residue ribosomal protein fusion product 1 gene DOID:9000998 Brain Injuries ISO RGD:68344 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex, hippocampus (rat) PMID:17936732|REF_RGD_ID:11041870 11856432 UBA52 ubiquitin A-52 residue ribosomal protein fusion product 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:68482 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:urine (human) PMID:17634209|REF_RGD_ID:2311211 11856432 UBA52 ubiquitin A-52 residue ribosomal protein fusion product 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:68483 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (mouse) PMID:12171997|REF_RGD_ID:11352735 11856432 UBA52 ubiquitin A-52 residue ribosomal protein fusion product 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:68482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11856462 SLITRK3 SLIT and NTRK like family member 3 gene DOID:1059 intellectual disability ISO RGD:1321448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11856462 SLITRK3 SLIT and NTRK like family member 3 gene DOID:630 genetic disease ISO RGD:1321448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856476 AK4 adenylate kinase 4 gene DOID:0080600 COVID-19 ISO RGD:1606591 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11856476 AK4 adenylate kinase 4 gene DOID:1059 intellectual disability ISO RGD:1606591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11856476 AK4 adenylate kinase 4 gene DOID:12556 acute kidney tubular necrosis ISO RGD:2078 D RGD:9068941 20200609 RGD protein:decreased expression:kidney (rat) PMID:21152904|REF_RGD_ID:5134352 11856476 AK4 adenylate kinase 4 gene DOID:630 genetic disease ISO RGD:1606591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856476 AK4 adenylate kinase 4 gene DOID:8398 osteoarthritis ISO RGD:1606591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11856476 AK4 adenylate kinase 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2078 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:16538043|REF_RGD_ID:2301096 11856502 TRIM17 tripartite motif containing 17 gene DOID:1540 parathyroid carcinoma ISO RGD:736909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11856502 TRIM17 tripartite motif containing 17 gene DOID:630 genetic disease ISO RGD:736909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856502 TRIM17 tripartite motif containing 17 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11856531 LMO1 LIM domain only 1 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1352109 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:19246562|PMID:2034676|PMID:3259177 11856531 LMO1 LIM domain only 1 gene DOID:630 genetic disease ISO RGD:1352109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856545 SLCO1A2 solute carrier organic anion transporter family member 1A2 gene DOID:12308 Dubin-Johnson syndrome ISO RGD:621389 D RGD:9068941 20200609 RGD PMID:14731123|REF_RGD_ID:1598620 11856545 SLCO1A2 solute carrier organic anion transporter family member 1A2 gene DOID:13580 cholestasis treatment ISO RGD:621389 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:27090119|REF_RGD_ID:15090804 11856545 SLCO1A2 solute carrier organic anion transporter family member 1A2 gene DOID:630 genetic disease ISO RGD:1607085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856545 SLCO1A2 solute carrier organic anion transporter family member 1A2 gene DOID:9452 fatty liver disease ISO RGD:621389 D RGD:9068941 20200609 RGD PMID:16139386|REF_RGD_ID:1598602 11856571 DRD4 dopamine receptor D4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11856571 DRD4 dopamine receptor D4 gene DOID:0050729 neutral lipid storage disease ISO RGD:736138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 11856571 DRD4 dopamine receptor D4 gene DOID:0060040 pervasive developmental disorder ISO RGD:736138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20731709 11856571 DRD4 dopamine receptor D4 gene DOID:0060040 pervasive developmental disorder ISO RGD:736138 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood PMID:21906006|REF_RGD_ID:5686422 11856571 DRD4 dopamine receptor D4 gene DOID:0060041 autism spectrum disorder ISO RGD:736138 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11856571 DRD4 dopamine receptor D4 gene DOID:0080773 delta beta-thalassemia ISO RGD:736138 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11856571 DRD4 dopamine receptor D4 gene DOID:0111969 immunodeficiency 39 ISO RGD:736138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11856571 DRD4 dopamine receptor D4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11856571 DRD4 dopamine receptor D4 gene DOID:1059 intellectual disability ISO RGD:736138 D RGD:9068941 20200609 RGD DNA:snps, haplotype:promoter:c.-906T>C, c.-809A>G (rs3758653, rs936461) (human) PMID:22366260|REF_RGD_ID:13209013 11856571 DRD4 dopamine receptor D4 gene DOID:10652 Alzheimer's disease ISO RGD:736138 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex, neuron PMID:17182012|REF_RGD_ID:5686412 11856571 DRD4 dopamine receptor D4 gene DOID:10685 separation anxiety disorder ISO RGD:736138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20731709 11856571 DRD4 dopamine receptor D4 gene DOID:10939 antisocial personality disorder ISO RGD:736796 D RGD:9068941 20200609 RGD DNA:duplication:exon:g.2689_2737dup (human) PMID:17587443|REF_RGD_ID:13210585 11856571 DRD4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:736138 D RGD:7240710 20180130 OMIM 11856571 DRD4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder no_association ISO RGD:736138 D RGD:9068941 20200609 RGD DNA:duplication:exon:g.2689_2737dup (human) PMID:10898895|REF_RGD_ID:7248607 11856571 DRD4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder no_association ISO RGD:736138 D RGD:9068941 20200609 RGD DNA:duplication:promoter:g.-1480_-1240dup (human) PMID:11449395|REF_RGD_ID:13210510 11856571 DRD4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder no_association ISO RGD:736138 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-521G>A (human) PMID:15389764|REF_RGD_ID:13210521 11856571 DRD4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder severity ISO RGD:736138 D RGD:9068941 20200609 RGD DNA:duplication:exon:g.2689_2737dup (human) PMID:17679637|REF_RGD_ID:13210507 11856571 DRD4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder severity ISO RGD:736138 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-521G>A (human) PMID:15909295|REF_RGD_ID:13210511 11856571 DRD4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder susceptibility ISO RGD:736138 D RGD:9068941 20200806 RGD DNA:repeats: : PMID:9118321|REF_RGD_ID:1358608 11856571 DRD4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder treatment ISO RGD:737381|RGD:1312823 D RGD:9068941 20200609 RGD DNA:duplication:exon:g.2689_2737dup (human) PMID:23083021|REF_RGD_ID:13210577 11856571 DRD4 dopamine receptor D4 gene DOID:11119 Gilles de la Tourette syndrome no_association ISO RGD:736138 D RGD:9068941 20200609 RGD DNA:duplication:exon:g.2689_2737dup (human) PMID:8725747|REF_RGD_ID:13210516 11856571 DRD4 dopamine receptor D4 gene DOID:11119 Gilles de la Tourette syndrome susceptibility ISO RGD:736138 D RGD:9068941 20200609 RGD DNA:duplication:exon:g.2689_2737dup (human) PMID:25258183|REF_RGD_ID:13209010 11856571 DRD4 dopamine receptor D4 gene DOID:11465 autonomic nervous system disease ISO RGD:736138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autonomic nervous system dysfunction PMID:7881421 11856571 DRD4 dopamine receptor D4 gene DOID:12399 pathological gambling ISO RGD:736138 D RGD:9068941 20200609 RGD DNA:duplication:exon:g.2689_2737dup (human) PMID:10402503|REF_RGD_ID:13210523 11856571 DRD4 dopamine receptor D4 gene DOID:12995 conduct disorder ISO RGD:736796 D RGD:9068941 20200609 RGD DNA:duplication:exon:g.2689_2737dup (human) PMID:17587443|REF_RGD_ID:13210585 11856571 DRD4 dopamine receptor D4 gene DOID:1324 lung cancer ISO RGD:736138 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 11856571 DRD4 dopamine receptor D4 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11856571 DRD4 dopamine receptor D4 gene DOID:2769 tic disorder ISO RGD:736138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20731709 11856571 DRD4 dopamine receptor D4 gene DOID:4428 dyslexia ISO RGD:736138 D RGD:9068941 20200609 RGD DNA:duplication:exon:g.2689_2737dup (human) PMID:14755455|REF_RGD_ID:13209014 11856571 DRD4 dopamine receptor D4 gene DOID:5419 schizophrenia ISO RGD:736138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 11856571 DRD4 dopamine receptor D4 gene DOID:5419 schizophrenia ISO RGD:736138 D RGD:9068941 20200609 RGD protein:increased expression:striatum (human) PMID:8413587|REF_RGD_ID:13209006 11856571 DRD4 dopamine receptor D4 gene DOID:630 genetic disease ISO RGD:736138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856571 DRD4 dopamine receptor D4 gene DOID:670 amphetamine abuse ISO RGD:736138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274053 11856571 DRD4 dopamine receptor D4 gene DOID:684 hepatocellular carcinoma ISO RGD:736138 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 11856571 DRD4 dopamine receptor D4 gene DOID:9002514 Neointima treatment ISO RGD:2522 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:24888351|REF_RGD_ID:13506962 11856571 DRD4 dopamine receptor D4 gene DOID:9003410 Novelty Seeking Personality Trait ISO RGD:736138 D RGD:9068941 20200609 RGD DNA:duplication:exon:g.2689_2737dup (human) PMID:15517431|REF_RGD_ID:13210514 11856571 DRD4 dopamine receptor D4 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:736138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11856571 DRD4 dopamine receptor D4 gene DOID:9004956 Nocturnal Enuresis ISO RGD:736138 D RGD:9068941 20200609 RGD DNA:duplication, polymorphisms, haplotype:promoter:g.-1480_-1240dup, g.-616C>G, g.-521C>T (human) PMID:18947481|REF_RGD_ID:7248549 11856571 DRD4 dopamine receptor D4 gene DOID:9007872 Reactive Attachment Disorder susceptibility ISO RGD:736138 D RGD:9068941 20200806 RGD DNA:repeats: : PMID:11126393|REF_RGD_ID:36947393 11856571 DRD4 dopamine receptor D4 gene DOID:9007892 Tics ISO RGD:736138 D RGD:9068941 20200609 RGD associated with Obsessive-Compulsive Disorder;DNA:duplication:exon:g.2689_2737dup (human) PMID:9280153|REF_RGD_ID:13210517 11856571 DRD4 dopamine receptor D4 gene DOID:9008953 Binge-Eating Disorder ISO RGD:2522 D RGD:9068941 20200609 RGD PMID:28821448|REF_RGD_ID:13506951 11856571 DRD4 dopamine receptor D4 gene DOID:9008967 Brain Concussion ISO RGD:2522 D RGD:9068941 20200609 RGD PMID:26448536|REF_RGD_ID:13506960 11856571 DRD4 dopamine receptor D4 gene DOID:9009161 Attention Deficit and Disruptive Behavior Disorders ISO RGD:736138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20731709 11856571 DRD4 dopamine receptor D4 gene DOID:9009161 Attention Deficit and Disruptive Behavior Disorders ISO RGD:736138 D RGD:9068941 20200609 RGD associated with Attention Deficit Disorder with Hyperactivity;DNA:snp:promoter:g.-521C>T (human) PMID:17572775|REF_RGD_ID:13210522 11856571 DRD4 dopamine receptor D4 gene DOID:9970 obesity ISO RGD:2522 D RGD:9068941 20200609 RGD protein:decreased expression:kidney (rat) PMID:20810614|REF_RGD_ID:7248616 11856578 MFHAS1 multifunctional ROCO family signaling regulator 1 gene DOID:2661 myoepithelioma ISO RGD:1318798 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11856578 MFHAS1 multifunctional ROCO family signaling regulator 1 gene DOID:4415 fibrous histiocytoma ISO RGD:1318798 D RGD:9068941 20200609 RGD PMID:9973190|REF_RGD_ID:1599928 11856578 MFHAS1 multifunctional ROCO family signaling regulator 1 gene DOID:630 genetic disease ISO RGD:1318798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856578 MFHAS1 multifunctional ROCO family signaling regulator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11856579 HERPUD2 HERPUD family member 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11856579 HERPUD2 HERPUD family member 2 gene DOID:630 genetic disease ISO RGD:1605640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856579 HERPUD2 HERPUD family member 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1605640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11856597 ATF7IP2 activating transcription factor 7 interacting protein 2 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1314578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 11856597 ATF7IP2 activating transcription factor 7 interacting protein 2 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1314578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 11856597 ATF7IP2 activating transcription factor 7 interacting protein 2 gene DOID:5812 MHC class II deficiency ISO RGD:1314578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11856597 ATF7IP2 activating transcription factor 7 interacting protein 2 gene DOID:630 genetic disease ISO RGD:1314578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856618 PPFIBP2 PPFIA binding protein 2 gene DOID:630 genetic disease ISO RGD:1316733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856618 PPFIBP2 PPFIA binding protein 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26443449 11856618 PPFIBP2 PPFIA binding protein 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1316733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11856656 TAAR2 trace amine associated receptor 2 gene DOID:630 genetic disease ISO RGD:1606827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856661 TAS2R42 taste 2 receptor member 42 gene DOID:630 genetic disease ISO RGD:1344406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856664 PIWIL3 piwi like RNA-mediated gene silencing 3 gene DOID:14228 oligospermia ISO RGD:1351572 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20940137 11856664 PIWIL3 piwi like RNA-mediated gene silencing 3 gene DOID:630 genetic disease ISO RGD:1351572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856688 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:0050562 West syndrome ISO RGD:731284 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16919904 11856688 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:0050857 Perrault syndrome ISO RGD:731284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perrault syndrome PMID:10419023|PMID:10497229|PMID:11810648|PMID:15216544|PMID:16385454|PMID:20673864|PMID:22864515|PMID:23181892|PMID:24033266|PMID:24108619|PMID:25741868|PMID:25967389|PMID:26243799|PMID:26970254|PMID:27790638|PMID:28017249|PMID:28492532|PMID:28708278|PMID:28830375|PMID:31455392|PMID:4061497|PMID:9482850|PMID:9915948 11856688 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11856688 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:0080600 COVID-19 ISO RGD:731284 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11856688 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:0090031 D-bifunctional protein deficiency ISO RGD:731284 D RGD:7240710 20180130 OMIM 11856688 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:0090031 D-bifunctional protein deficiency ISO RGD:731284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency | ClinVar Annotator: match by term: DBP deficiency PMID:10400999|PMID:10419023|PMID:10497229|PMID:10671535|PMID:10748062|PMID:11330053|PMID:11743515|PMID:11810648|PMID:11992265|PMID:12562856|PMID:16199547|PMID:16385454|PMID:17576681|PMID:20673864|PMID:20681997|PMID:22507161|PMID:22864515|PMID:23100014|PMID:23181892|PMID:23308274|PMID:23332201|PMID:24033266|PMID:24108619|PMID:24553428|PMID:24602372|PMID:25741868|PMID:25882080|PMID:25954003|PMID:25967389|PMID:26243799|PMID:26467025|PMID:26970254|PMID:27243974|PMID:27290639|PMID:27528516|PMID:27618451|PMID:27650058|PMID:27790638|PMID:28017249|PMID:28490743|PMID:28492532|PMID:28649525|PMID:2868085|PMID:28708278|PMID:2882519|PMID:28830375|PMID:28973083|PMID:2921319|PMID:30396834|PMID:30561787|PMID:31230720|PMID:31455392|PMID:32042923|PMID:33510602|PMID:33539324|PMID:34440436|PMID:34660840|PMID:8279468|PMID:9345094|PMID:9482850|PMID:9536098|PMID:9915948 11856688 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:0090031 D-bifunctional protein deficiency severity ISO RGD:731284 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:16385454|REF_RGD_ID:10411884 11856688 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:10763 hypertension ISO RGD:621806 D RGD:9068941 20200609 RGD mRNA:decreased expression:renal cortex (rat) PMID:18430809|REF_RGD_ID:2292646 11856688 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:13366 Stiff-Person syndrome ISO RGD:731284 D RGD:9068941 20200609 RGD PMID:12225901|REF_RGD_ID:10411898 11856688 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:630 genetic disease ISO RGD:731284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11810648|PMID:16385454|PMID:22864515|PMID:24033266|PMID:25741868|PMID:25954003|PMID:25967389|PMID:27618451|PMID:27790638|PMID:28490743|PMID:28492532|PMID:28649525|PMID:31230720 11856688 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:9003326 Perrault Syndrome 1 ISO RGD:731284 D RGD:7240710 20180130 OMIM 11856688 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:9003326 Perrault Syndrome 1 ISO RGD:731284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Perrault syndrome 1 PMID:10419023|PMID:10497229|PMID:11810648|PMID:15216544|PMID:16385454|PMID:17576681|PMID:20673864|PMID:22864515|PMID:23181892|PMID:23332201|PMID:24033266|PMID:24108619|PMID:24553428|PMID:25741868|PMID:25967389|PMID:26243799|PMID:26467025|PMID:26970254|PMID:27790638|PMID:28017249|PMID:28492532|PMID:28708278|PMID:28830375|PMID:31230720|PMID:31455392|PMID:32747562|PMID:33539324|PMID:34906502|PMID:4061497|PMID:9482850|PMID:9536098|PMID:9915948 11856688 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11856688 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:9006534 Nervous System Malformations ISO RGD:731284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11856688 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11856688 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:9008301 Pseudo-Zellweger Syndrome ISO RGD:731284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pseudo Zellweger syndrome PMID:10419023|PMID:10497229|PMID:16385454|PMID:22864515|PMID:23181892|PMID:24033266|PMID:24108619|PMID:25741868|PMID:25967389|PMID:26970254|PMID:28492532|PMID:28708278|PMID:9482850|PMID:9915948 11856688 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:905 Zellweger syndrome ISO RGD:731284 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10343282 11856688 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:906 peroxisomal disease ISO RGD:731284 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16385454|PMID:9345094 11856731 INHBE inhibin subunit beta E gene DOID:630 genetic disease ISO RGD:737308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856731 INHBE inhibin subunit beta E gene DOID:6846 familial melanoma ISO RGD:737308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 11856731 INHBE inhibin subunit beta E gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737308 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 11856731 INHBE inhibin subunit beta E gene DOID:9455 lipid storage disease ISO RGD:737308 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17175557 11856737 SVEP1 sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1350967 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:28492532 11856737 SVEP1 sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 gene DOID:630 genetic disease ISO RGD:1350967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856798 PGF placental growth factor gene DOID:0060180 colitis ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:20142801|REF_RGD_ID:6483587 11856798 PGF placental growth factor gene DOID:1059 intellectual disability ISO RGD:1347328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11856798 PGF placental growth factor gene DOID:10591 pre-eclampsia ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:21756887|REF_RGD_ID:6483577 11856798 PGF placental growth factor gene DOID:10591 pre-eclampsia ISO RGD:619850 D RGD:9068941 20200609 RGD PMID:20720407|REF_RGD_ID:6483779 11856798 PGF placental growth factor gene DOID:10763 hypertension ISO RGD:1347328 D RGD:9068941 20200609 RGD associated with Pregnancy Complications, Cardiovascular;mRNA:decreased expression:placenta PMID:12808329|REF_RGD_ID:1642387 11856798 PGF placental growth factor gene DOID:10923 sickle cell anemia ISO RGD:1347328 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20040765|REF_RGD_ID:6483588 11856798 PGF placental growth factor gene DOID:11400 pyelonephritis ISO RGD:1347328 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:20213923|REF_RGD_ID:6483586 11856798 PGF placental growth factor gene DOID:12930 dilated cardiomyopathy ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:21900081|REF_RGD_ID:6483574 11856798 PGF placental growth factor gene DOID:1577 limited scleroderma ISO RGD:1347328 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22461185|REF_RGD_ID:6483571 11856798 PGF placental growth factor gene DOID:1612 breast cancer disease_progression ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:22270936|REF_RGD_ID:6483604 11856798 PGF placental growth factor gene DOID:1798 pancreatic endocrine carcinoma disease_progression ISO RGD:1347328 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23463017|REF_RGD_ID:14349029 11856798 PGF placental growth factor gene DOID:1798 pancreatic endocrine carcinoma treatment ISO RGD:1347328 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:26861455|REF_RGD_ID:14349030 11856798 PGF placental growth factor gene DOID:1798 pancreatic endocrine carcinoma treatment ISO RGD:1550266 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:26861455|REF_RGD_ID:14349030 11856798 PGF placental growth factor gene DOID:1824 status epilepticus ISO RGD:619850 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, hippocampus PMID:22079325|REF_RGD_ID:6483774 11856798 PGF placental growth factor gene DOID:1826 epilepsy ISO RGD:1347328 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:22160787|REF_RGD_ID:6483572 11856798 PGF placental growth factor gene DOID:1936 atherosclerosis ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:19952000|REF_RGD_ID:6483589 11856798 PGF placental growth factor gene DOID:2316 brain ischemia ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:16901914|REF_RGD_ID:6483783 11856798 PGF placental growth factor gene DOID:2841 asthma ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:22268141|REF_RGD_ID:6483605 11856798 PGF placental growth factor gene DOID:2841 asthma ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:22268141|REF_RGD_ID:6483605 11856798 PGF placental growth factor gene DOID:3068 glioblastoma disease_progression ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:20458050|REF_RGD_ID:6483585 11856798 PGF placental growth factor gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:22119626|REF_RGD_ID:6483573 11856798 PGF placental growth factor gene DOID:3328 temporal lobe epilepsy ISO RGD:1347328 D RGD:9068941 20200609 RGD protein:increased expression:temporal cortex PMID:22079325|REF_RGD_ID:6483774 11856798 PGF placental growth factor gene DOID:3407 carotid artery disease severity ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:17157858|REF_RGD_ID:6483596 11856798 PGF placental growth factor gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:1550266 D RGD:9068941 20200609 RGD associated with obesity PMID:26861455|REF_RGD_ID:14349030 11856798 PGF placental growth factor gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1347328 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:14981951|REF_RGD_ID:13506645 11856798 PGF placental growth factor gene DOID:4977 lymphedema ISO RGD:1347328 D RGD:9068941 20200609 RGD associated with Elephantiasis, Filarial;protein:increased expression:plasma PMID:20889885|REF_RGD_ID:6483608 11856798 PGF placental growth factor gene DOID:5082 liver cirrhosis ISO RGD:1347328 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, serum PMID:21520176|REF_RGD_ID:6483607 11856798 PGF placental growth factor gene DOID:5844 myocardial infarction ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:22114497|REF_RGD_ID:6483773 11856798 PGF placental growth factor gene DOID:5844 myocardial infarction ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:20649603|REF_RGD_ID:6483584 11856798 PGF placental growth factor gene DOID:5844 myocardial infarction ISO RGD:619850 D RGD:9068941 20200609 RGD PMID:21329947|REF_RGD_ID:6483777 11856798 PGF placental growth factor gene DOID:6000 congestive heart failure ISO RGD:619850 D RGD:9068941 20200609 RGD PMID:19327525|REF_RGD_ID:6483590 11856798 PGF placental growth factor gene DOID:630 genetic disease ISO RGD:1347328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856798 PGF placental growth factor gene DOID:6432 pulmonary hypertension ISO RGD:1347328 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;protein:increased expression:plasma PMID:20040765|REF_RGD_ID:6483588 11856798 PGF placental growth factor gene DOID:6432 pulmonary hypertension ISO RGD:1347328 D RGD:9068941 20200609 RGD associated with Heart Defects, Congenital PMID:20195855|REF_RGD_ID:6483610 11856798 PGF placental growth factor gene DOID:7147 ankylosing spondylitis ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:21873332|REF_RGD_ID:6483576 11856798 PGF placental growth factor gene DOID:7148 rheumatoid arthritis ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:19180491|REF_RGD_ID:6483591 11856798 PGF placental growth factor gene DOID:783 end stage renal disease ISO RGD:619850 D RGD:9068941 20200609 RGD PMID:16543713|REF_RGD_ID:1642390 11856798 PGF placental growth factor gene DOID:874 bacterial pneumonia ISO RGD:1550266 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16702604|REF_RGD_ID:6483601 11856798 PGF placental growth factor gene DOID:8778 Crohn's disease ISO RGD:1347328 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17980128|REF_RGD_ID:6483592 11856798 PGF placental growth factor gene DOID:8947 diabetic retinopathy ISO RGD:619850 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:21408222|REF_RGD_ID:6483775 11856798 PGF placental growth factor gene DOID:9000656 Penetrating Wounds ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:17194893|REF_RGD_ID:6483614 11856798 PGF placental growth factor gene DOID:9001547 Tibial Fractures ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:16614757|REF_RGD_ID:6483602 11856798 PGF placental growth factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:21520176|REF_RGD_ID:6483607 11856798 PGF placental growth factor gene DOID:9001573 Experimental Liver Cirrhosis disease_progression ISO RGD:619850 D RGD:9068941 20200609 RGD PMID:17935226|REF_RGD_ID:1643338 11856798 PGF placental growth factor gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:1347328 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1 PMID:21988672|REF_RGD_ID:6483606 11856798 PGF placental growth factor gene DOID:9002457 Experimental Arthritis ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:19180491|REF_RGD_ID:6483591 11856798 PGF placental growth factor gene DOID:9002498 Wallerian Degeneration ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:21264946|REF_RGD_ID:6483582 11856798 PGF placental growth factor gene DOID:9002669 Hypoxia ISO RGD:619850 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17240241|REF_RGD_ID:1642388 11856798 PGF placental growth factor gene DOID:9003281 Spontaneous Abortions ISO RGD:1347328 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11856798 PGF placental growth factor gene DOID:9003507 Premature Birth ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:20822327|REF_RGD_ID:6483609 11856798 PGF placental growth factor gene DOID:9004484 Sepsis ISO RGD:1550266 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16702604|REF_RGD_ID:6483601 11856798 PGF placental growth factor gene DOID:9005372 Inflammation ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:19356732|REF_RGD_ID:6483611 11856798 PGF placental growth factor gene DOID:9005372 Inflammation severity ISO RGD:1347328 D RGD:9068941 20200609 RGD associated with Arteriosclerosis;protein:increased expression:artery PMID:17157858|REF_RGD_ID:6483596 11856798 PGF placental growth factor gene DOID:9005372 Inflammation severity ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:15911697|REF_RGD_ID:1642386 11856798 PGF placental growth factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619850 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:placenta, trophoblast cell PMID:17917370|REF_RGD_ID:6483782 11856798 PGF placental growth factor gene DOID:9005930 Endotoxemia ISO RGD:1550266 D RGD:9068941 20200609 RGD protein:increased expression:multiple PMID:16702604|REF_RGD_ID:6483601 11856798 PGF placental growth factor gene DOID:9007096 Stroke ISO RGD:1550266 D RGD:9068941 20200609 RGD protein:increased expression:brain, astrocyte PMID:11939589|REF_RGD_ID:6483603 11856798 PGF placental growth factor gene DOID:9007102 Myocardial Ischemia ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:18192038|REF_RGD_ID:6483613 11856798 PGF placental growth factor gene DOID:9074 systemic lupus erythematosus ISO RGD:1347328 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19276301|REF_RGD_ID:6483612 11856798 PGF placental growth factor gene DOID:9675 pulmonary emphysema ISO RGD:1550266 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung, plasma PMID:17023518|REF_RGD_ID:5135245 11856798 PGF placental growth factor gene DOID:9743 diabetic neuropathy ISO RGD:1347328 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21056561|REF_RGD_ID:6483583 11856798 PGF placental growth factor gene DOID:9970 obesity ISO RGD:1347328 D RGD:9068941 20200609 RGD associated with Pre-eclampsia;protein:increased expression:serum PMID:16769024|REF_RGD_ID:1642384 11856798 PGF placental growth factor gene DOID:9970 obesity ISO RGD:1347328 D RGD:9068941 20200609 RGD associated with pancreatic cancer;protein:increased expression:plasma (human) PMID:26861455|REF_RGD_ID:14349030 11856798 PGF placental growth factor gene DOID:9970 obesity ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:16020476|REF_RGD_ID:1642385 11856810 EML6 EMAP like 6 gene DOID:10126 keratoconus ISO RGD:2302327 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratoconus 11856810 EML6 EMAP like 6 gene DOID:630 genetic disease ISO RGD:2302327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856878 TPTE2 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 gene DOID:630 genetic disease ISO RGD:1314090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856896 SSR3 signal sequence receptor subunit 3 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1349375 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:30945312 11856896 SSR3 signal sequence receptor subunit 3 gene DOID:630 genetic disease ISO RGD:1349375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856912 HRH2 histamine receptor H2 gene DOID:0060001 withdrawal disorder ISO RGD:735725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8870037 11856912 HRH2 histamine receptor H2 gene DOID:10763 hypertension ISO RGD:735725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30310171 11856912 HRH2 histamine receptor H2 gene DOID:224 transient cerebral ischemia ISO RGD:2831 D RGD:9068941 20200609 RGD protein:decreased expression:caudate putamen (rat) PMID:16181737|REF_RGD_ID:9685533 11856912 HRH2 histamine receptor H2 gene DOID:2661 myoepithelioma ISO RGD:735725 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11856912 HRH2 histamine receptor H2 gene DOID:2671 transitional cell carcinoma ISO RGD:735725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6224980 11856912 HRH2 histamine receptor H2 gene DOID:4248 coronary stenosis ISO RGD:735725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12721106 11856912 HRH2 histamine receptor H2 gene DOID:6000 congestive heart failure susceptibility ISO RGD:10732 D RGD:9068941 20200609 RGD PMID:24655024|REF_RGD_ID:9685523 11856912 HRH2 histamine receptor H2 gene DOID:630 genetic disease ISO RGD:735725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856912 HRH2 histamine receptor H2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6224980 11856912 HRH2 histamine receptor H2 gene DOID:9002170 Experimental Neoplasms ISO RGD:735725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6224980 11856912 HRH2 histamine receptor H2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:735725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30310171 11856912 HRH2 histamine receptor H2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22926047 11856912 HRH2 histamine receptor H2 gene DOID:9007838 Myocardial Reperfusion Injury susceptibility ISO RGD:10732 D RGD:9068941 20200609 RGD PMID:23467745|REF_RGD_ID:9685524 11856929 COPS7B COP9 signalosome subunit 7B gene DOID:0060476 Perlman syndrome ISO RGD:1315805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11856929 COPS7B COP9 signalosome subunit 7B gene DOID:0080006 bone development disease ISO RGD:1315805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 11856929 COPS7B COP9 signalosome subunit 7B gene DOID:0110991 Joubert syndrome 22 ISO RGD:1315805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11856929 COPS7B COP9 signalosome subunit 7B gene DOID:630 genetic disease ISO RGD:1315805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856946 SLC2A14 solute carrier family 2 member 14 gene DOID:0060041 autism spectrum disorder ISO RGD:1347307 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11856946 SLC2A14 solute carrier family 2 member 14 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1347307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11856946 SLC2A14 solute carrier family 2 member 14 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1347307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11856946 SLC2A14 solute carrier family 2 member 14 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1347307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11856946 SLC2A14 solute carrier family 2 member 14 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1347307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11856946 SLC2A14 solute carrier family 2 member 14 gene DOID:0111621 Temtamy syndrome ISO RGD:1347307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11856946 SLC2A14 solute carrier family 2 member 14 gene DOID:14330 Parkinson's disease ISO RGD:1347307 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 11856946 SLC2A14 solute carrier family 2 member 14 gene DOID:630 genetic disease ISO RGD:1347307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11856946 SLC2A14 solute carrier family 2 member 14 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1347307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11856965 MUTYH mutY DNA glycosylase gene DOID:0050424 familial adenomatous polyposis ISO RGD:731074 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis PMID:11818965|PMID:12606733|PMID:12707038|PMID:12917422|PMID:14991577|PMID:15034862|PMID:15931596|PMID:15943555|PMID:15987719|PMID:16140997|PMID:16408224|PMID:16492921|PMID:16557584|PMID:16616356|PMID:16645203|PMID:16774938|PMID:16941501|PMID:17031395|PMID:17161978|PMID:17489848|PMID:17524638|PMID:17931073|PMID:17949294|PMID:17956577|PMID:18271935|PMID:18506705|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19394335|PMID:19506731|PMID:19531215|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20191381|PMID:20418187|PMID:20618354|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22922830|PMID:22926731|PMID:23007840|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23561487|PMID:23605219|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24039736|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25741868|PMID:25820570|PMID:25937855|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29371908|PMID:29484706|PMID:29766397|PMID:29785153|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31422818|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:35535697 11856965 MUTYH mutY DNA glycosylase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731074 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11856965 MUTYH mutY DNA glycosylase gene DOID:0060276 pontocerebellar hypoplasia type 7 ISO RGD:731074 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 7 PMID:18271935|PMID:25741868|PMID:28492532 11856965 MUTYH mutY DNA glycosylase gene DOID:0070271 Lynch syndrome 1 ISO RGD:731074 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 PMID:11818965|PMID:12606733|PMID:12917422|PMID:15931596|PMID:15987719|PMID:16492921|PMID:16557584|PMID:17489848|PMID:17956577|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19394335|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29371908|PMID:29766397|PMID:29785153|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:35535697 11856965 MUTYH mutY DNA glycosylase gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:731074 D RGD:7240710 20180130 OMIM 11856965 MUTYH mutY DNA glycosylase gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:731074 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: MUTYH-related attenuated familial adenomatous polyposis PMID:10612827|PMID:11092888|PMID:11295288|PMID:11433026|PMID:11801590|PMID:11805113|PMID:11818965|PMID:11864576|PMID:12056405|PMID:12393807|PMID:12606733|PMID:12707038|PMID:12853198|PMID:14579148|PMID:14618256|PMID:14633673|PMID:14991577|PMID:14999774|PMID:15034862|PMID:15180946|PMID:15188161|PMID:15236166|PMID:15273732|PMID:15326180|PMID:15366000|PMID:15465463|PMID:15635083|PMID:15673720|PMID:15690400|PMID:15761860|PMID:15890374|PMID:15931596|PMID:15943555|PMID:15987719|PMID:16042573|PMID:16134146|PMID:16134147|PMID:16140997|PMID:16199547|PMID:16207212|PMID:16234049|PMID:16287072|PMID:16338133|PMID:16408224|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16616356|PMID:16645203|PMID:16774938|PMID:16890597|PMID:16929514|PMID:16941501|PMID:16996809|PMID:17031395|PMID:17081686|PMID:17122612|PMID:17161978|PMID:17207658|PMID:17219385|PMID:17252231|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17524638|PMID:17576681|PMID:17581577|PMID:17674103|PMID:17703316|PMID:17874208|PMID:17931073|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18172263|PMID:18271935|PMID:18294051|PMID:18301448|PMID:18414213|PMID:18422726|PMID:18433509|PMID:18495334|PMID:18506705|PMID:18515411|PMID:18534194|PMID:18564191|PMID:18776649|PMID:18787472|PMID:18811933|PMID:18992148|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19300419|PMID:19394335|PMID:19414147|PMID:19443904|PMID:19479711|PMID:19506731|PMID:19527492|PMID:19531215|PMID:19620482|PMID:19725997|PMID:19732775|PMID:19793053|PMID:19806110|PMID:19836313|PMID:19841264|PMID:19953527|PMID:19998059|PMID:20110747|PMID:20191381|PMID:20223003|PMID:20418187|PMID:20571908|PMID:20618354|PMID:20628285|PMID:20663686|PMID:20687945|PMID:20725929|PMID:20816984|PMID:2084865|PMID:20848659|PMID:21061173|PMID:21063410|PMID:21078199|PMID:21153778|PMID:21167187|PMID:21171015|PMID:21178863|PMID:21195604|PMID:21235684|PMID:21287799|PMID:21443744|PMID:21520333|PMID:21777424|PMID:21815886|PMID:21952991|PMID:21962078|PMID:22158503|PMID:22252118|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22538434|PMID:22641385|PMID:22703879|PMID:22722201|PMID:22744763|PMID:22773231|PMID:22865608|PMID:22922830|PMID:22926731|PMID:22976915|PMID:23007840|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23383274|PMID:23460355|PMID:23507534|PMID:23561487|PMID:23605219|PMID:23621914|PMID:23625202|PMID:23677194|PMID:23729658|PMID:23805267|PMID:23820649|PMID:24033266|PMID:24039736|PMID:24082139|PMID:24278394|PMID:24377541|PMID:24444654|PMID:24470512|PMID:24556621|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24799981|PMID:24834277|PMID:24953332|PMID:25151137|PMID:25186627|PMID:25197429|PMID:25307848|PMID:25318351|PMID:25326637|PMID:25368107|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25590978|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25820570|PMID:25856671|PMID:25892863|PMID:25927356|PMID:25937855|PMID:25938944|PMID:25957691|PMID:25980754|PMID:26138249|PMID:26202870|PMID:26296696|PMID:26300997|PMID:26332594|PMID:26377631|PMID:26414517|PMID:26436112|PMID:26446593|PMID:26467025|PMID:26511139|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26600934|PMID:26615199|PMID:26632267|PMID:26673696|PMID:26681312|PMID:26684149|PMID:26684191|PMID:26689913|PMID:26694661|PMID:26822237|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26900293|PMID:26902849|PMID:26944241|PMID:26947005|PMID:26976419|PMID:27014339|PMID:27077130|PMID:27145315|PMID:27153395|PMID:27194394|PMID:27276934|PMID:27377421|PMID:27443514|PMID:27600092|PMID:27631816|PMID:27696107|PMID:27705013|PMID:27732944|PMID:27797849|PMID:27799157|PMID:27829682|PMID:27870730|PMID:27978560|PMID:28087410|PMID:28127763|PMID:28135048|PMID:28135145|PMID:28141798|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28199314|PMID:28202063|PMID:28243543|PMID:28251689|PMID:28332257|PMID:28349240|PMID:28445943|PMID:28492532|PMID:28495237|PMID:28502729|PMID:28503720|PMID:28526081|PMID:28533537|PMID:28577310|PMID:28634180|PMID:28644590 11856965 MUTYH mutY DNA glycosylase gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:731074 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: MUTYH-related attenuated familial adenomatous polyposis PMID:28687356|PMID:28709830|PMID:28717660|PMID:28726808|PMID:28861346|PMID:28873161|PMID:28873162|PMID:28944238|PMID:28961279|PMID:29093764|PMID:29330641|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29406563|PMID:29431110|PMID:29458332|PMID:29478780|PMID:29484706|PMID:29506128|PMID:29557500|PMID:29641532|PMID:29667044|PMID:29684080|PMID:29700634|PMID:29754767|PMID:29766397|PMID:29879026|PMID:29915346|PMID:29967336|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30151275|PMID:30256826|PMID:30267214|PMID:30291343|PMID:30306255|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30487145|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30675318|PMID:30676620|PMID:30719162|PMID:30833417|PMID:30836094|PMID:30850667|PMID:30877237|PMID:30886832|PMID:30927264|PMID:30953464|PMID:30982232|PMID:31062380|PMID:31090900|PMID:31104418|PMID:31159747|PMID:31203172|PMID:31214250|PMID:31220976|PMID:31263571|PMID:31273614|PMID:31277343|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31447099|PMID:31575519|PMID:31589614|PMID:31666926|PMID:31739127|PMID:31742824|PMID:31921681|PMID:31980526|PMID:32088803|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32338768|PMID:32390703|PMID:32615015|PMID:32658311|PMID:32665031|PMID:32782288|PMID:32821650|PMID:32830346|PMID:32904697|PMID:32973888|PMID:33011440|PMID:33024574|PMID:33094510|PMID:33130102|PMID:33134171|PMID:33193653|PMID:33194656|PMID:33258288|PMID:33309985|PMID:33332384|PMID:33343895|PMID:33383211|PMID:33384714|PMID:33442023|PMID:33471991|PMID:33504652|PMID:33553733|PMID:33878367|PMID:34285288|PMID:9536098|PMID:9846876 11856965 MUTYH mutY DNA glycosylase gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:731074 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:10612827|PMID:11092888|PMID:11295288|PMID:11433026|PMID:11801590|PMID:11805113|PMID:11818965|PMID:11864576|PMID:12056405|PMID:12393807|PMID:12606733|PMID:12707038|PMID:12853198|PMID:12917422|PMID:14579148|PMID:14618256|PMID:14633673|PMID:14991577|PMID:14999774|PMID:15034862|PMID:15180946|PMID:15188161|PMID:15236166|PMID:15273732|PMID:15326180|PMID:15366000|PMID:15465463|PMID:15635083|PMID:15673720|PMID:15690400|PMID:15761860|PMID:15890374|PMID:15931596|PMID:15943555|PMID:15987719|PMID:16042573|PMID:16134146|PMID:16134147|PMID:16140997|PMID:16199547|PMID:16207212|PMID:16234049|PMID:16287072|PMID:16338133|PMID:16408224|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16616356|PMID:16645203|PMID:16774938|PMID:16890597|PMID:16929514|PMID:16941501|PMID:16996809|PMID:17031395|PMID:17081686|PMID:17122612|PMID:17161978|PMID:17207658|PMID:17219385|PMID:17252231|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17524638|PMID:17576681|PMID:17581577|PMID:17674103|PMID:17703316|PMID:17874208|PMID:17931073|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18172263|PMID:18271935|PMID:18294051|PMID:18301448|PMID:18414213|PMID:18422726|PMID:18433509|PMID:18495334|PMID:18506705|PMID:18515411|PMID:18534194|PMID:18564191|PMID:18776649|PMID:18811933|PMID:18992148|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19300419|PMID:19394335|PMID:19414147|PMID:19443904|PMID:19479711|PMID:19506731|PMID:19527492|PMID:19531215|PMID:19620482|PMID:19725997|PMID:19732775|PMID:19793053|PMID:19806110|PMID:19836313|PMID:19841264|PMID:19953527|PMID:19998059|PMID:20110747|PMID:20149637|PMID:20191381|PMID:20223003|PMID:20418187|PMID:20571908|PMID:20618354|PMID:20628285|PMID:20663686|PMID:20687945|PMID:20725929|PMID:20816984|PMID:2084865|PMID:20848659|PMID:21061173|PMID:21063410|PMID:21078199|PMID:21153778|PMID:21167187|PMID:21171015|PMID:21178863|PMID:21195604|PMID:21235684|PMID:21287799|PMID:21424714|PMID:21443744|PMID:21520333|PMID:21777424|PMID:21815886|PMID:21952991|PMID:21962078|PMID:22158503|PMID:22252118|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22538434|PMID:22641385|PMID:22703879|PMID:22722201|PMID:22744763|PMID:22773231|PMID:22865608|PMID:22922830|PMID:22926731|PMID:22976915|PMID:23007840|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23383274|PMID:23460355|PMID:23507534|PMID:23561487|PMID:23599153|PMID:23605219|PMID:23621914|PMID:23625202|PMID:23677194|PMID:23729658|PMID:23805267|PMID:23820649|PMID:24033266|PMID:24039736|PMID:24082139|PMID:24278394|PMID:24377541|PMID:24444654|PMID:24470512|PMID:24556621|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24799981|PMID:24834277|PMID:24953332|PMID:25151137|PMID:25186627|PMID:25197429|PMID:25307848|PMID:25318351|PMID:25368107|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25590978|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25820570|PMID:25856671|PMID:25892863|PMID:25927356|PMID:25937855|PMID:25938944|PMID:25957691|PMID:25980754|PMID:25995449|PMID:26138249|PMID:26202870|PMID:26296696|PMID:26300997|PMID:26332594|PMID:26377631|PMID:26414517|PMID:26436112|PMID:26446593|PMID:26467025|PMID:26511139|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26600934|PMID:26615199|PMID:26632267|PMID:26673696|PMID:26681312|PMID:26684149|PMID:26684191|PMID:26689913|PMID:26694661|PMID:26822237|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26900293|PMID:26902849|PMID:26944241|PMID:26947005|PMID:26976419|PMID:27014339|PMID:27077130|PMID:27145315|PMID:27153395|PMID:27194394|PMID:27276934|PMID:27377421|PMID:27443514|PMID:27600092|PMID:27631816|PMID:27696107|PMID:27705013|PMID:27732944|PMID:27797849|PMID:27799157|PMID:27829682|PMID:27870730|PMID:27878467|PMID:27978560|PMID:28087410|PMID:28127763|PMID:28130451|PMID:28135048|PMID:28135145|PMID:28141798|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28199314|PMID:28202063|PMID:28243543|PMID:28251689|PMID:28332257|PMID:28349240|PMID:28445943|PMID:28492532|PMID:28495237|PMID:28502729|PMID:28503720 11856965 MUTYH mutY DNA glycosylase gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:731074 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:28526081|PMID:28533537|PMID:28551381|PMID:28577310|PMID:28608266|PMID:28634180|PMID:28644590|PMID:28687356|PMID:28709830|PMID:28717660|PMID:28726808|PMID:28790112|PMID:28861346|PMID:28873161|PMID:28873162|PMID:28944238|PMID:28961279|PMID:29093764|PMID:29192238|PMID:29212164|PMID:29330641|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29406563|PMID:29431110|PMID:29458332|PMID:29478780|PMID:29484706|PMID:29506128|PMID:29557500|PMID:29610499|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29684080|PMID:29700634|PMID:29754767|PMID:29766397|PMID:29785153|PMID:29879026|PMID:29915346|PMID:29967336|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30098577|PMID:30122538|PMID:30151275|PMID:30256826|PMID:30267214|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30357411|PMID:30374176|PMID:30487145|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30620386|PMID:30675318|PMID:30676620|PMID:30702970|PMID:30719162|PMID:30833417|PMID:30836094|PMID:30850667|PMID:30852976|PMID:30877237|PMID:30886832|PMID:30927264|PMID:30953464|PMID:30982232|PMID:31062380|PMID:31090900|PMID:31104418|PMID:31159747|PMID:31203172|PMID:31214250|PMID:31220976|PMID:31263571|PMID:31273614|PMID:31277343|PMID:31285513|PMID:31350202|PMID:31360874|PMID:31422818|PMID:31447099|PMID:31465090|PMID:31512090|PMID:31575519|PMID:31589614|PMID:31618753|PMID:31666926|PMID:31687339|PMID:31739127|PMID:31742824|PMID:31780696|PMID:31829624|PMID:31867841|PMID:31921681|PMID:31942411|PMID:31970404|PMID:31980526|PMID:32029870|PMID:32068069|PMID:32072083|PMID:32088803|PMID:32133419|PMID:32231684|PMID:32255556|PMID:32283892|PMID:32338768|PMID:32390558|PMID:32390703|PMID:32570879|PMID:32615015|PMID:32658311|PMID:32665031|PMID:32782288|PMID:32821650|PMID:32830346|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32904697|PMID:32973888|PMID:32980694|PMID:33011440|PMID:33024574|PMID:33087929|PMID:33094510|PMID:33130102|PMID:33134171|PMID:33193653|PMID:33194656|PMID:33258288|PMID:33309985|PMID:33313162|PMID:33332384|PMID:33343895|PMID:33383211|PMID:33384714|PMID:33414168|PMID:33436027|PMID:33442023|PMID:33471974|PMID:33471991|PMID:33504652|PMID:33553733|PMID:33606809|PMID:33785725|PMID:33878367|PMID:34034685|PMID:34259353|PMID:34271781|PMID:34285288|PMID:34308366|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34704405|PMID:34716202|PMID:34816434|PMID:34897210|PMID:34994648|PMID:35089076|PMID:35264596|PMID:35430768|PMID:35535697|PMID:35628513|PMID:35668106|PMID:35980532|PMID:36988593|PMID:9536098|PMID:9846876 11856965 MUTYH mutY DNA glycosylase gene DOID:0080412 familial adenomatous polyposis 4 ISO RGD:731074 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 4 PMID:16134147|PMID:16287072|PMID:16455870|PMID:16557584|PMID:17081686|PMID:17949294|PMID:18534194|PMID:19279422|PMID:19394335|PMID:19732775|PMID:20618354|PMID:23108399|PMID:24444654|PMID:24569162|PMID:25741868|PMID:25820570|PMID:25980754|PMID:26446593|PMID:26467025|PMID:26556299|PMID:27829682|PMID:27870730|PMID:28152038|PMID:28492532|PMID:28551381|PMID:29406563|PMID:30604180|PMID:31942411|PMID:33130102 11856965 MUTYH mutY DNA glycosylase gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:731074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11856965 MUTYH mutY DNA glycosylase gene DOID:0111504 Li-Fraumeni syndrome 2 ISO RGD:731074 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 2 PMID:11818965|PMID:12606733|PMID:12917422|PMID:15931596|PMID:15987719|PMID:16492921|PMID:16557584|PMID:17489848|PMID:17956577|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19394335|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29371908|PMID:29766397|PMID:29785153|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:35535697 11856965 MUTYH mutY DNA glycosylase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731074 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11856965 MUTYH mutY DNA glycosylase gene DOID:10534 stomach cancer ISO RGD:731074 D RGD:7240710 20220209 OMIM 11856965 MUTYH mutY DNA glycosylase gene DOID:10534 stomach cancer ISO RGD:731074 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:11092888|PMID:11433026|PMID:11805113|PMID:11818965|PMID:11864576|PMID:12606733|PMID:14618256|PMID:15180946|PMID:15273732|PMID:15890374|PMID:16134147|PMID:16140997|PMID:16338133|PMID:16492921|PMID:16557584|PMID:16616356|PMID:17161978|PMID:17219385|PMID:17489848|PMID:17703316|PMID:17949294|PMID:17956577|PMID:18271935|PMID:18414213|PMID:18422726|PMID:18506705|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19300419|PMID:19394335|PMID:19414147|PMID:19506731|PMID:19527492|PMID:19531215|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20191381|PMID:20418187|PMID:20571908|PMID:20618354|PMID:20663686|PMID:20725929|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21520333|PMID:22266422|PMID:22402879|PMID:22473953|PMID:22641385|PMID:22703879|PMID:22744763|PMID:22865608|PMID:22926731|PMID:23007840|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23507534|PMID:23605219|PMID:24033266|PMID:24377541|PMID:24444654|PMID:24569162|PMID:24728327|PMID:24733792|PMID:24799981|PMID:25151137|PMID:25197429|PMID:25525159|PMID:25741868|PMID:25820570|PMID:25856671|PMID:25892863|PMID:25927356|PMID:25937855|PMID:25980754|PMID:26202870|PMID:26296696|PMID:26332594|PMID:26377631|PMID:26436112|PMID:26467025|PMID:26511139|PMID:26517685|PMID:26556299|PMID:26600934|PMID:26681312|PMID:26684149|PMID:26684191|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26902849|PMID:26976419|PMID:27077130|PMID:27145315|PMID:27153395|PMID:27443514|PMID:27631816|PMID:27797849|PMID:27829682|PMID:28127763|PMID:28135145|PMID:28141798|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28251689|PMID:28332257|PMID:28349240|PMID:28445943|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28526081|PMID:28533537|PMID:28709830|PMID:28873162|PMID:28944238|PMID:29093764|PMID:29330641|PMID:29406563|PMID:29431110|PMID:29506128|PMID:29557500|PMID:29915346|PMID:30067863|PMID:30093976|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30487145|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30676620|PMID:30833417|PMID:30877237|PMID:30886832|PMID:30953464|PMID:30982232|PMID:31104418|PMID:31159747|PMID:31203172|PMID:31263571|PMID:31447099|PMID:31575519|PMID:31589614|PMID:31739127|PMID:31921681|PMID:31980526|PMID:32088803|PMID:32255556|PMID:32283892|PMID:32338768|PMID:32615015|PMID:32665031|PMID:32821650|PMID:32830346|PMID:32904697|PMID:33024574|PMID:33193653|PMID:33258288|PMID:33309985|PMID:33332384|PMID:33384714|PMID:33442023|PMID:33471974|PMID:33471991|PMID:33504652|PMID:34716202|PMID:34897210|PMID:36988593 11856965 MUTYH mutY DNA glycosylase gene DOID:1380 endometrial cancer ISO RGD:731074 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Endometrial cancer, somatic PMID:11818965|PMID:12606733|PMID:12917422|PMID:15931596|PMID:15987719|PMID:16492921|PMID:16557584|PMID:17489848|PMID:17956577|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19394335|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29371908|PMID:29766397|PMID:29785153|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:35535697 11856965 MUTYH mutY DNA glycosylase gene DOID:1520 colon carcinoma ISO RGD:731074 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:35535697|PMID:9536098 11856965 MUTYH mutY DNA glycosylase gene DOID:1520 colon carcinoma ISO RGD:731074 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:11295288|PMID:11818965|PMID:12393807|PMID:12606733|PMID:12853198|PMID:12917422|PMID:14579148|PMID:14991577|PMID:15180946|PMID:15188161|PMID:15236166|PMID:15366000|PMID:15635083|PMID:15690400|PMID:15890374|PMID:15931596|PMID:15943555|PMID:15987719|PMID:16134146|PMID:16134147|PMID:16140997|PMID:16199547|PMID:16287072|PMID:16338133|PMID:16408224|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16616356|PMID:16774938|PMID:16929514|PMID:16941501|PMID:17081686|PMID:17122612|PMID:17161978|PMID:17219385|PMID:17252231|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17524638|PMID:17576681|PMID:17581577|PMID:17703316|PMID:17874208|PMID:17931073|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18271935|PMID:18414213|PMID:18422726|PMID:18495334|PMID:18506705|PMID:18515411|PMID:18534194|PMID:18564191|PMID:18811933|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19300419|PMID:19394335|PMID:19414147|PMID:19479711|PMID:19527492|PMID:19531215|PMID:19620482|PMID:19725997|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20110747|PMID:20191381|PMID:20418187|PMID:20571908|PMID:20618354|PMID:20663686|PMID:20687945|PMID:20725929|PMID:20848659|PMID:21063410|PMID:21167187|PMID:21171015|PMID:21178863|PMID:21195604|PMID:21287799|PMID:21443744|PMID:21520333|PMID:21777424|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22641385|PMID:22703879|PMID:22722201|PMID:22744763|PMID:22773231|PMID:22865608|PMID:22922830|PMID:22926731|PMID:22976915|PMID:23007840|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23383274|PMID:23561487|PMID:23605219|PMID:23625202|PMID:23805267|PMID:23820649|PMID:24033266|PMID:24039736|PMID:24082139|PMID:24278394|PMID:24377541|PMID:24444654|PMID:24470512|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24733792|PMID:24799981|PMID:24834277|PMID:24953332|PMID:25151137|PMID:25186627|PMID:25197429|PMID:25307848|PMID:25326637|PMID:25503501|PMID:25525159|PMID:25569433|PMID:25590978|PMID:25741868|PMID:25820570|PMID:25856671|PMID:25927356|PMID:25937855|PMID:25980754|PMID:26202870|PMID:26296696|PMID:26300997|PMID:26332594|PMID:26377631|PMID:26436112|PMID:26446593|PMID:26467025|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26600934|PMID:26632267|PMID:26673696|PMID:26681312|PMID:26684149|PMID:26684191|PMID:26689913|PMID:26694661|PMID:26822237|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26900293|PMID:26902849|PMID:26947005|PMID:26976419|PMID:27014339|PMID:27077130|PMID:27145315|PMID:27153395|PMID:27194394|PMID:27443514|PMID:27600092|PMID:27631816|PMID:27705013|PMID:27797849|PMID:27829682|PMID:27870730|PMID:28087410|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28199314|PMID:28202063|PMID:28251689|PMID:28332257|PMID:28445943|PMID:28492532|PMID:28495237|PMID:28502729|PMID:28503720|PMID:28526081|PMID:28533537|PMID:28634180|PMID:28644590|PMID:28687356|PMID:28709830|PMID:28717660|PMID:28873161|PMID:28873162|PMID:28944238|PMID:29093764|PMID:29330641|PMID:29368341|PMID:29406563|PMID:29431110|PMID:29506128|PMID:29557500|PMID:29667044|PMID:29700634|PMID:29766397|PMID:29879026|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30151275|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30676620|PMID:30833417|PMID:30836094|PMID:30850667|PMID:30852976|PMID:30877237|PMID:30886832|PMID:30953464|PMID:30982232|PMID:31159747|PMID:31203172|PMID:31214250|PMID:31263571|PMID:31285513|PMID:31422818|PMID:31447099|PMID:31575519|PMID:31589614|PMID:31739127|PMID:31921681|PMID:31980526|PMID:32088803|PMID:32255556|PMID:32283892|PMID:32338768|PMID:32615015|PMID:32658311|PMID:32665031|PMID:32830346|PMID:32854451|PMID:32904697|PMID:32973888|PMID:33024574|PMID:33094510|PMID:33130102|PMID:33134171|PMID:33193653|PMID:33194656|PMID:33258288|PMID:33309985|PMID:33332384|PMID:33343895|PMID:33383211|PMID:33384714|PMID:33442023|PMID:33471991 11856965 MUTYH mutY DNA glycosylase gene DOID:1520 colon carcinoma ISO RGD:731074 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:33504652|PMID:35535697|PMID:9536098 11856965 MUTYH mutY DNA glycosylase gene DOID:1520 colon carcinoma ISO RGD:731074 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:11295288|PMID:11818965|PMID:12393807|PMID:12606733|PMID:12853198|PMID:12917422|PMID:14579148|PMID:14991577|PMID:15180946|PMID:15188161|PMID:15236166|PMID:15366000|PMID:15635083|PMID:15690400|PMID:15890374|PMID:15931596|PMID:15943555|PMID:15987719|PMID:16134146|PMID:16134147|PMID:16140997|PMID:16199547|PMID:16287072|PMID:16338133|PMID:16408224|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16616356|PMID:16774938|PMID:16929514|PMID:16941501|PMID:17081686|PMID:17122612|PMID:17161978|PMID:17219385|PMID:17252231|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17524638|PMID:17576681|PMID:17581577|PMID:17703316|PMID:17874208|PMID:17931073|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18271935|PMID:18414213|PMID:18422726|PMID:18495334|PMID:18506705|PMID:18515411|PMID:18534194|PMID:18564191|PMID:18811933|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19300419|PMID:19394335|PMID:19414147|PMID:19479711|PMID:19527492|PMID:19531215|PMID:19620482|PMID:19725997|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20110747|PMID:20191381|PMID:20418187|PMID:20571908|PMID:20618354|PMID:20663686|PMID:20687945|PMID:20725929|PMID:20816984|PMID:20848659|PMID:21063410|PMID:21167187|PMID:21171015|PMID:21178863|PMID:21195604|PMID:21287799|PMID:21443744|PMID:21520333|PMID:21777424|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22641385|PMID:22703879|PMID:22722201|PMID:22744763|PMID:22773231|PMID:22865608|PMID:22922830|PMID:22926731|PMID:22976915|PMID:23007840|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23383274|PMID:23561487|PMID:23599153|PMID:23605219|PMID:23625202|PMID:23805267|PMID:23820649|PMID:24033266|PMID:24039736|PMID:24082139|PMID:24278394|PMID:24377541|PMID:24444654|PMID:24470512|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24733792|PMID:24799981|PMID:24834277|PMID:24953332|PMID:25151137|PMID:25186627|PMID:25197429|PMID:25307848|PMID:25503501|PMID:25525159|PMID:25569433|PMID:25590978|PMID:25741868|PMID:25820570|PMID:25856671|PMID:25927356|PMID:25937855|PMID:25980754|PMID:26202870|PMID:26296696|PMID:26300997|PMID:26332594|PMID:26377631|PMID:26436112|PMID:26446593|PMID:26467025|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26600934|PMID:26632267|PMID:26673696|PMID:26681312|PMID:26684149|PMID:26684191|PMID:26689913|PMID:26694661|PMID:26822237|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26900293|PMID:26902849|PMID:26947005|PMID:26976419|PMID:27014339|PMID:27077130|PMID:27145315|PMID:27153395|PMID:27194394|PMID:27443514|PMID:27600092|PMID:27631816|PMID:27705013|PMID:27797849|PMID:27829682|PMID:27870730|PMID:28087410|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28199314|PMID:28202063|PMID:28251689|PMID:28332257|PMID:28445943|PMID:28492532|PMID:28495237|PMID:28502729|PMID:28503720|PMID:28526081|PMID:28533537|PMID:28551381|PMID:28634180|PMID:28644590|PMID:28687356|PMID:28709830|PMID:28717660|PMID:28873161|PMID:28873162|PMID:28944238|PMID:29093764|PMID:29330641|PMID:29368341|PMID:29406563|PMID:29431110|PMID:29506128|PMID:29557500|PMID:29667044|PMID:29700634|PMID:29766397|PMID:29879026|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30151275|PMID:30256826|PMID:30267214|PMID:30291343|PMID:30306255|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30676620|PMID:30833417|PMID:30836094|PMID:30850667|PMID:30852976|PMID:30877237|PMID:30886832|PMID:30953464|PMID:30982232|PMID:31159747|PMID:31203172|PMID:31214250|PMID:31263571|PMID:31285513|PMID:31422818|PMID:31447099|PMID:31575519|PMID:31589614|PMID:31739127|PMID:31829624|PMID:31921681|PMID:31942411|PMID:31980526|PMID:32088803|PMID:32255556|PMID:32283892|PMID:32338768|PMID:32615015|PMID:32658311|PMID:32665031|PMID:32830346|PMID:32854451|PMID:32904697|PMID:32973888|PMID:33024574|PMID:33094510|PMID:33130102|PMID:33134171|PMID:33193653|PMID:33194656|PMID:33258288|PMID:33309985|PMID:33332384 11856965 MUTYH mutY DNA glycosylase gene DOID:1520 colon carcinoma ISO RGD:731074 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:33343895|PMID:33383211|PMID:33384714|PMID:33442023|PMID:33471991|PMID:33504652|PMID:34716202|PMID:34897210|PMID:35535697|PMID:35668106|PMID:9536098 11856965 MUTYH mutY DNA glycosylase gene DOID:1520 colon carcinoma ISO RGD:731074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:11295288|PMID:11818965|PMID:12393807|PMID:12606733|PMID:12853198|PMID:12917422|PMID:14579148|PMID:14991577|PMID:15180946|PMID:15188161|PMID:15236166|PMID:15366000|PMID:15635083|PMID:15690400|PMID:15890374|PMID:15931596|PMID:15943555|PMID:15987719|PMID:16134146|PMID:16134147|PMID:16140997|PMID:16287072|PMID:16338133|PMID:16408224|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16616356|PMID:16774938|PMID:16929514|PMID:16941501|PMID:17081686|PMID:17122612|PMID:17161978|PMID:17219385|PMID:17252231|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17524638|PMID:17576681|PMID:17581577|PMID:17703316|PMID:17874208|PMID:17931073|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18172263|PMID:18271935|PMID:18414213|PMID:18422726|PMID:18495334|PMID:18506705|PMID:18515411|PMID:18534194|PMID:18564191|PMID:18811933|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19300419|PMID:19394335|PMID:19414147|PMID:19479711|PMID:19527492|PMID:19531215|PMID:19620482|PMID:19725997|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20110747|PMID:20191381|PMID:20418187|PMID:20571908|PMID:20618354|PMID:20663686|PMID:20687945|PMID:20725929|PMID:20816984|PMID:20848659|PMID:21063410|PMID:21167187|PMID:21171015|PMID:21178863|PMID:21195604|PMID:21287799|PMID:21443744|PMID:21520333|PMID:21777424|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22641385|PMID:22703879|PMID:22722201|PMID:22744763|PMID:22773231|PMID:22865608|PMID:22922830|PMID:22926731|PMID:22976915|PMID:23007840|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23383274|PMID:23561487|PMID:23599153|PMID:23605219|PMID:23625202|PMID:23805267|PMID:23820649|PMID:24033266|PMID:24039736|PMID:24082139|PMID:24278394|PMID:24377541|PMID:24444654|PMID:24470512|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24733792|PMID:24799981|PMID:24834277|PMID:24953332|PMID:25151137|PMID:25186627|PMID:25197429|PMID:25307848|PMID:25503501|PMID:25525159|PMID:25569433|PMID:25590978|PMID:25741868|PMID:25820570|PMID:25856671|PMID:25927356|PMID:25937855|PMID:25980754|PMID:26202870|PMID:26296696|PMID:26300997|PMID:26332594|PMID:26377631|PMID:26436112|PMID:26446593|PMID:26467025|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26600934|PMID:26632267|PMID:26673696|PMID:26681312|PMID:26684149|PMID:26684191|PMID:26689913|PMID:26694661|PMID:26822237|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26900293|PMID:26902849|PMID:26947005|PMID:26976419|PMID:27014339|PMID:27077130|PMID:27145315|PMID:27153395|PMID:27194394|PMID:27443514|PMID:27600092|PMID:27631816|PMID:27705013|PMID:27797849|PMID:27829682|PMID:27870730|PMID:28087410|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28199314|PMID:28202063|PMID:28251689|PMID:28332257|PMID:28445943|PMID:28492532|PMID:28495237|PMID:28502729|PMID:28503720|PMID:28526081|PMID:28533537|PMID:28551381|PMID:28577310|PMID:28634180|PMID:28644590|PMID:28687356|PMID:28709830|PMID:28717660|PMID:28873161|PMID:28873162|PMID:28944238|PMID:29093764|PMID:29330641|PMID:29368341|PMID:29371908|PMID:29406563|PMID:29431110|PMID:29506128|PMID:29557500|PMID:29667044|PMID:29700634|PMID:29766397|PMID:29785153|PMID:29879026|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30151275|PMID:30256826|PMID:30267214|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30836094|PMID:30850667|PMID:30852976|PMID:30877237|PMID:30886832|PMID:30953464|PMID:30982232|PMID:31159747|PMID:31203172|PMID:31214250|PMID:31263571|PMID:31285513|PMID:31422818|PMID:31447099|PMID:31512090|PMID:31575519|PMID:31589614|PMID:31618753|PMID:31739127|PMID:31829624|PMID:31921681|PMID:31942411|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32255556|PMID:32283892|PMID:32338768|PMID:32570879|PMID:32615015|PMID:32658311|PMID:32665031|PMID:32830346|PMID:32854451|PMID:32904697 11856965 MUTYH mutY DNA glycosylase gene DOID:1520 colon carcinoma ISO RGD:731074 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:32973888|PMID:33024574|PMID:33087929|PMID:33094510|PMID:33130102|PMID:33134171|PMID:33193653|PMID:33194656|PMID:33258288|PMID:33309985|PMID:33332384|PMID:33343895|PMID:33383211|PMID:33384714|PMID:33442023|PMID:33471991|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:34716202|PMID:34897210|PMID:35089076|PMID:35264596|PMID:35430768|PMID:35535697|PMID:35628513|PMID:35668106|PMID:35980532|PMID:36988593|PMID:9536098 11856965 MUTYH mutY DNA glycosylase gene DOID:1612 breast cancer ISO RGD:731074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:16557584|PMID:21195604|PMID:25741868|PMID:26467025|PMID:26900293|PMID:28492532 11856965 MUTYH mutY DNA glycosylase gene DOID:219 colon cancer ISO RGD:731074 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colon cancer | ClinVar Annotator: match by term: Malignant tumor of colon PMID:11818965|PMID:12606733|PMID:12853198|PMID:12917422|PMID:15931596|PMID:15987719|PMID:16492921|PMID:16557584|PMID:16616356|PMID:17489848|PMID:17576681|PMID:17956577|PMID:18495334|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19394335|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22773231|PMID:22865608|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28873162|PMID:28944238|PMID:29371908|PMID:29766397|PMID:29785153|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:35535697|PMID:9536098 11856965 MUTYH mutY DNA glycosylase gene DOID:2394 ovarian cancer ISO RGD:731074 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:15236166|PMID:16042573|PMID:16890597|PMID:18091433|PMID:18301448|PMID:19279422|PMID:20618354|PMID:20848659|PMID:21195604|PMID:23322991|PMID:25741868|PMID:25820570|PMID:28492532|PMID:34704405 11856965 MUTYH mutY DNA glycosylase gene DOID:2871 endometrial carcinoma ISO RGD:731074 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:11818965|PMID:12606733|PMID:16140997|PMID:16338133|PMID:16492921|PMID:16557584|PMID:16616356|PMID:17489848|PMID:17956577|PMID:18414213|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19300419|PMID:19394335|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20571908|PMID:20725929|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:22266422|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23605219|PMID:24033266|PMID:24444654|PMID:24569162|PMID:24728327|PMID:24733792|PMID:25741868|PMID:25820570|PMID:25980754|PMID:26202870|PMID:26467025|PMID:26517685|PMID:26556299|PMID:26681312|PMID:26845104|PMID:27153395|PMID:27631816|PMID:27797849|PMID:27829682|PMID:28492532|PMID:28503720|PMID:28709830|PMID:28944238|PMID:29506128|PMID:29557500|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30676620|PMID:30833417|PMID:30877237|PMID:30953464|PMID:31159747|PMID:31263571|PMID:31447099|PMID:31589614|PMID:31921681|PMID:31980526|PMID:32088803|PMID:32283892|PMID:32338768|PMID:32615015|PMID:32830346|PMID:33193653|PMID:33258288|PMID:33332384|PMID:33384714|PMID:33442023|PMID:33504652 11856965 MUTYH mutY DNA glycosylase gene DOID:3459 breast carcinoma ISO RGD:731074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:11818965|PMID:12606733|PMID:15931596|PMID:15987719|PMID:16134147|PMID:16140997|PMID:16287072|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16941501|PMID:17081686|PMID:17219385|PMID:17489848|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19394335|PMID:19531215|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20663686|PMID:20725929|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22252118|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24569162|PMID:24728327|PMID:24953332|PMID:25525159|PMID:25741868|PMID:25820570|PMID:25980754|PMID:26202870|PMID:26332594|PMID:26377631|PMID:26446593|PMID:26467025|PMID:26556299|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27829682|PMID:27870730|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28634180|PMID:28944238|PMID:29406563|PMID:29766397|PMID:30604180 11856965 MUTYH mutY DNA glycosylase gene DOID:3459 breast carcinoma ISO RGD:731074 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:11818965|PMID:12606733|PMID:12917422|PMID:15931596|PMID:15987719|PMID:16134147|PMID:16140997|PMID:16287072|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16941501|PMID:17081686|PMID:17219385|PMID:17489848|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19394335|PMID:19531215|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20663686|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22252118|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24569162|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25525159|PMID:25741868|PMID:25820570|PMID:25980754|PMID:26202870|PMID:26332594|PMID:26377631|PMID:26446593|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28551381|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29371908|PMID:29406563|PMID:29766397|PMID:29785153|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31942411|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32658311|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33130102|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:35535697|PMID:36988593 11856965 MUTYH mutY DNA glycosylase gene DOID:4001 ovarian carcinoma ISO RGD:731074 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:11818965|PMID:12606733|PMID:12917422|PMID:15931596|PMID:15987719|PMID:16492921|PMID:16557584|PMID:17489848|PMID:17956577|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19394335|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29371908|PMID:29766397|PMID:29785153|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:35535697 11856965 MUTYH mutY DNA glycosylase gene DOID:5374 pilomatrixoma ISO RGD:731074 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Calcifying epithelioma of Malherbe | ClinVar Annotator: match by term: Pilomatrixoma PMID:11801590|PMID:11818965|PMID:12606733|PMID:12917422|PMID:15236166|PMID:15673720|PMID:15931596|PMID:15987719|PMID:16042573|PMID:16492921|PMID:16557584|PMID:16890597|PMID:17489848|PMID:17956577|PMID:18091433|PMID:18301448|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19394335|PMID:19531215|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20687945|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21195604|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24728327|PMID:24733792|PMID:24953332|PMID:25186627|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29371908|PMID:29766397|PMID:29785153|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33471991|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:34704405|PMID:35535697 11856965 MUTYH mutY DNA glycosylase gene DOID:5517 stomach carcinoma ISO RGD:731074 D RGD:9068941 20200609 RGD PMID:15273732|REF_RGD_ID:1600201 11856965 MUTYH mutY DNA glycosylase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:731074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11856965 MUTYH mutY DNA glycosylase gene DOID:630 genetic disease ISO RGD:731074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11856965 MUTYH mutY DNA glycosylase gene DOID:687 hepatoblastoma ISO RGD:731074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 11856965 MUTYH mutY DNA glycosylase gene DOID:768 retinoblastoma ISO RGD:731074 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:25741868|PMID:26947005|PMID:28135145|PMID:28492532|PMID:30267214 11856965 MUTYH mutY DNA glycosylase gene DOID:9000217 Stomach Neoplasms ISO RGD:731074 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stomach Neoplasms PMID:11818965|PMID:12606733|PMID:12917422|PMID:15931596|PMID:15987719|PMID:16492921|PMID:16557584|PMID:17489848|PMID:17956577|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19394335|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29371908|PMID:29766397|PMID:29785153|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:35535697 11856965 MUTYH mutY DNA glycosylase gene DOID:9002199 Paragangliomas 1 ISO RGD:731074 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Paragangliomas 1 PMID:11818965|PMID:12606733|PMID:16140997|PMID:16338133|PMID:16492921|PMID:16557584|PMID:16616356|PMID:17489848|PMID:17956577|PMID:18414213|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19300419|PMID:19394335|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20571908|PMID:20725929|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:22266422|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23605219|PMID:24033266|PMID:24444654|PMID:24569162|PMID:24728327|PMID:24733792|PMID:25741868|PMID:25820570|PMID:25980754|PMID:26202870|PMID:26467025|PMID:26517685|PMID:26556299|PMID:26681312|PMID:26845104|PMID:27153395|PMID:27631816|PMID:27797849|PMID:27829682|PMID:28492532|PMID:28503720|PMID:28709830|PMID:28944238|PMID:29506128|PMID:29557500|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30676620|PMID:30833417|PMID:30877237|PMID:30953464|PMID:31159747|PMID:31263571|PMID:31447099|PMID:31589614|PMID:31921681|PMID:31980526|PMID:32088803|PMID:32283892|PMID:32338768|PMID:32615015|PMID:32830346|PMID:33193653|PMID:33258288|PMID:33332384|PMID:33384714|PMID:33442023|PMID:33504652 11856965 MUTYH mutY DNA glycosylase gene DOID:9002928 Colonic Neoplasms ISO RGD:731074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colonic neoplasm PMID:16890597|PMID:19394335|PMID:19732775|PMID:20618354|PMID:20628285|PMID:21520333|PMID:25741868|PMID:26446593|PMID:27829682|PMID:28492532 11856965 MUTYH mutY DNA glycosylase gene DOID:9005655 Paragangliomas 2 ISO RGD:731074 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Paragangliomas 2 PMID:21153778|PMID:24033266|PMID:24728327|PMID:25186627|PMID:25741868|PMID:25820570|PMID:25980754|PMID:26467025|PMID:26689913|PMID:28492532|PMID:30122538|PMID:32868316|PMID:34816434 11856965 MUTYH mutY DNA glycosylase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731074 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10612827|PMID:10713439|PMID:11092888|PMID:11295288|PMID:11433026|PMID:11801590|PMID:11805113|PMID:11818965|PMID:11864576|PMID:12056405|PMID:12393807|PMID:12606733|PMID:12707038|PMID:12853198|PMID:12917422|PMID:14579148|PMID:14618256|PMID:14633673|PMID:14991577|PMID:15034862|PMID:15036665|PMID:15180946|PMID:15188161|PMID:15236166|PMID:15326180|PMID:15366000|PMID:15465463|PMID:15635083|PMID:15673720|PMID:15681617|PMID:15690400|PMID:15761860|PMID:15890374|PMID:15931596|PMID:15943555|PMID:15987719|PMID:16042573|PMID:16134146|PMID:16134147|PMID:16140997|PMID:16199547|PMID:16207212|PMID:16234049|PMID:16287072|PMID:16338133|PMID:16408224|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16616356|PMID:16645203|PMID:16774938|PMID:16890597|PMID:16929514|PMID:16941501|PMID:16996809|PMID:17031395|PMID:17081686|PMID:17122612|PMID:17161978|PMID:17207658|PMID:17219385|PMID:17252231|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17524638|PMID:17576681|PMID:17581577|PMID:17674103|PMID:17703316|PMID:17874208|PMID:17931073|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18172263|PMID:18271935|PMID:18294051|PMID:18301448|PMID:18414213|PMID:18422726|PMID:18433509|PMID:18495334|PMID:18506705|PMID:18515411|PMID:18534194|PMID:18564191|PMID:18811933|PMID:18992148|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19300419|PMID:19394335|PMID:19414147|PMID:19443904|PMID:19479711|PMID:19506731|PMID:19527492|PMID:19531215|PMID:19620482|PMID:19725997|PMID:19732775|PMID:19793053|PMID:19806110|PMID:19836313|PMID:19841264|PMID:19953527|PMID:19998059|PMID:20110747|PMID:20149637|PMID:20191381|PMID:20223003|PMID:20418187|PMID:20571908|PMID:20618354|PMID:20628285|PMID:20663686|PMID:20687945|PMID:20725929|PMID:20816984|PMID:2084865|PMID:20848659|PMID:21061173|PMID:21063410|PMID:21078199|PMID:21153778|PMID:21167187|PMID:21171015|PMID:21178863|PMID:21195604|PMID:21235684|PMID:21287799|PMID:21424714|PMID:21443744|PMID:21520333|PMID:21777424|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22252118|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22538434|PMID:22641385|PMID:22703879|PMID:22722201|PMID:22744763|PMID:22773231|PMID:22865608|PMID:22922830|PMID:22926731|PMID:22976915|PMID:23007840|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23383274|PMID:23460355|PMID:23507534|PMID:23561487|PMID:23599153|PMID:23605219|PMID:23621914|PMID:23625202|PMID:23729658|PMID:23805267|PMID:23820649|PMID:24033266|PMID:24039736|PMID:24082139|PMID:24278394|PMID:24377541|PMID:24444654|PMID:24470512|PMID:24556621|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24799981|PMID:24834277|PMID:24953332|PMID:25151137|PMID:25186627|PMID:25197429|PMID:25307848|PMID:25318351|PMID:25368107|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25590978|PMID:25637381|PMID:25741868|PMID:25820570|PMID:25856671|PMID:25892863|PMID:25927356|PMID:25937855|PMID:25938944|PMID:25957691|PMID:25980754|PMID:25995449|PMID:26138249|PMID:26202870|PMID:26296696|PMID:26300997|PMID:26332594|PMID:26377631|PMID:26436112|PMID:26446593|PMID:26467025|PMID:26511139|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26600934|PMID:26615199|PMID:26632267|PMID:26673696|PMID:26681312|PMID:26684149|PMID:26684191|PMID:26689913|PMID:26694661|PMID:26822237|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26900293|PMID:26902849|PMID:26944241|PMID:26947005|PMID:26976419|PMID:27014339|PMID:27077130|PMID:27145315|PMID:27153395|PMID:27194394|PMID:27276934|PMID:27347161|PMID:27377421|PMID:27443514|PMID:27600092|PMID:27631816|PMID:27696107|PMID:27705013|PMID:27732944|PMID:27797849|PMID:27799157|PMID:27829682|PMID:27870730|PMID:27878467|PMID:27978560|PMID:28087410|PMID:28127763|PMID:28130451|PMID:28135048|PMID:28135145|PMID:28141798|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28199314|PMID:28202063|PMID:28243543|PMID:28251689|PMID:28332257|PMID:28349240|PMID:28445943|PMID:28492532|PMID:28495237|PMID:28502729|PMID:28503720|PMID:28526081|PMID:28533537|PMID:28551381 11856965 MUTYH mutY DNA glycosylase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731074 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28577310|PMID:28608266|PMID:28634180|PMID:28644590|PMID:28687356|PMID:28709830|PMID:28717660|PMID:28726808|PMID:28790112|PMID:28861346|PMID:28873161|PMID:28873162|PMID:28944238|PMID:28961279|PMID:29093764|PMID:29192238|PMID:29212164|PMID:29330641|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29406563|PMID:29431110|PMID:29458332|PMID:29478780|PMID:29484706|PMID:29506128|PMID:29557500|PMID:29610499|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29684080|PMID:29700634|PMID:29754767|PMID:29766397|PMID:29785153|PMID:29879026|PMID:29915346|PMID:29967336|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30098577|PMID:30122538|PMID:30151275|PMID:30151276|PMID:30256826|PMID:30267214|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30357411|PMID:30374176|PMID:30487145|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30620386|PMID:30675318|PMID:30676620|PMID:30702970|PMID:30719162|PMID:30833417|PMID:30836094|PMID:30850667|PMID:30852976|PMID:30877237|PMID:30886832|PMID:30927264|PMID:30953464|PMID:30982232|PMID:31062380|PMID:31090900|PMID:31104418|PMID:31159747|PMID:31203172|PMID:31214250|PMID:31220976|PMID:31263571|PMID:31273614|PMID:31277343|PMID:31285513|PMID:31350202|PMID:31360874|PMID:31422818|PMID:31447099|PMID:31465090|PMID:31512090|PMID:31575519|PMID:31589614|PMID:31613886|PMID:31618753|PMID:31666926|PMID:31687339|PMID:31739127|PMID:31742824|PMID:31780696|PMID:31829624|PMID:31867841|PMID:31921681|PMID:31942411|PMID:31970404|PMID:31980526|PMID:32068069|PMID:32072083|PMID:32088803|PMID:32133419|PMID:32231684|PMID:32255556|PMID:32283892|PMID:32338768|PMID:32390558|PMID:32390703|PMID:32570879|PMID:32615015|PMID:32658311|PMID:32665031|PMID:32782288|PMID:32821650|PMID:32830346|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32904697|PMID:32973888|PMID:32980694|PMID:33011440|PMID:33024574|PMID:33087929|PMID:33094510|PMID:33130102|PMID:33134171|PMID:33193653|PMID:33194656|PMID:33223521|PMID:33258288|PMID:33309985|PMID:33313162|PMID:33332384|PMID:33343895|PMID:33383211|PMID:33384714|PMID:33414168|PMID:33436027|PMID:33442023|PMID:33471974|PMID:33471991|PMID:33504652|PMID:33553733|PMID:33606809|PMID:33785725|PMID:33878367|PMID:34034685|PMID:34259353|PMID:34271781|PMID:34285288|PMID:34308366|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34704405|PMID:34716202|PMID:34816434|PMID:34897210|PMID:34994648|PMID:35089076|PMID:35264596|PMID:35430768|PMID:35535697|PMID:35628513|PMID:35668106|PMID:35980532|PMID:36988593|PMID:9536098|PMID:9846876 11856965 MUTYH mutY DNA glycosylase gene DOID:9008952 Breast Cancer, Familial ISO RGD:731074 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16287072|PMID:18091433|PMID:19953527|PMID:20418187|PMID:22252118|PMID:24033266|PMID:25186627|PMID:25307848|PMID:25503501|PMID:25741868|PMID:25820570|PMID:27829682|PMID:28492532|PMID:32658311 11856965 MUTYH mutY DNA glycosylase gene DOID:9256 colorectal cancer ISO RGD:731074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:11818965|PMID:12393807|PMID:12606733|PMID:15635083|PMID:15890374|PMID:15931596|PMID:15987719|PMID:16140997|PMID:16492921|PMID:16557584|PMID:17219385|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17703316|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18506705|PMID:18534194|PMID:18564191|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19394335|PMID:19506731|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20663686|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22266422|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22865608|PMID:22926731|PMID:22976915|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23507534|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24953332|PMID:25525159|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27705013|PMID:27829682|PMID:28135145|PMID:28141798|PMID:28152038|PMID:28492532|PMID:28634180|PMID:28944238|PMID:29330641|PMID:29766397|PMID:29915346|PMID:30487145|PMID:30604180|PMID:31104418|PMID:31203172|PMID:31739127|PMID:32665031|PMID:32821650 11856965 MUTYH mutY DNA glycosylase gene DOID:9256 colorectal cancer ISO RGD:731074 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:11818965|PMID:12393807|PMID:12606733|PMID:15635083|PMID:15890374|PMID:15931596|PMID:15987719|PMID:16140997|PMID:16492921|PMID:16557584|PMID:17219385|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17703316|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18506705|PMID:18534194|PMID:18564191|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19394335|PMID:19506731|PMID:19531215|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20663686|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22865608|PMID:22926731|PMID:22976915|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23507534|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24953332|PMID:25525159|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27705013|PMID:27829682|PMID:28135145|PMID:28141798|PMID:28152038|PMID:28492532|PMID:28634180|PMID:28687356|PMID:28944238|PMID:29330641|PMID:29766397|PMID:29915346|PMID:29978187|PMID:30067863|PMID:30306255|PMID:30322717|PMID:30333958|PMID:30487145|PMID:30604180|PMID:30609409|PMID:30676620|PMID:31104418|PMID:31203172|PMID:31263571|PMID:31739127|PMID:32665031|PMID:32821650 11856965 MUTYH mutY DNA glycosylase gene DOID:9256 colorectal cancer ISO RGD:731074 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer PMID:11818965|PMID:12393807|PMID:12606733|PMID:12917422|PMID:15635083|PMID:15890374|PMID:15931596|PMID:15987719|PMID:16140997|PMID:16492921|PMID:16557584|PMID:17219385|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17703316|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18506705|PMID:18534194|PMID:18564191|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19394335|PMID:19506731|PMID:19531215|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20663686|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22865608|PMID:22926731|PMID:22976915|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23507534|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24953332|PMID:25525159|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27705013|PMID:27829682|PMID:28135145|PMID:28141798|PMID:28152038|PMID:28492532|PMID:28634180|PMID:28687356|PMID:28944238|PMID:29330641|PMID:29766397|PMID:29915346|PMID:29978187|PMID:30067863|PMID:30306255|PMID:30322717|PMID:30333958|PMID:30487145|PMID:30604180|PMID:30609409|PMID:30676620|PMID:31104418|PMID:31203172|PMID:31263571|PMID:31739127|PMID:32665031|PMID:32821650|PMID:35535697 11856965 MUTYH mutY DNA glycosylase gene DOID:9256 colorectal cancer ISO RGD:731074 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:11818965|PMID:12393807|PMID:12606733|PMID:12917422|PMID:15635083|PMID:15890374|PMID:15931596|PMID:15987719|PMID:16140997|PMID:16492921|PMID:16557584|PMID:17219385|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17703316|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18506705|PMID:18534194|PMID:18564191|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19394335|PMID:19506731|PMID:19531215|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20663686|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22865608|PMID:22926731|PMID:22976915|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23507534|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25525159|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27705013|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28141798|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29330641|PMID:29371908|PMID:29766397|PMID:29785153|PMID:29915346|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30487145|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31104418|PMID:31159747|PMID:31203172|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31739127|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32665031|PMID:32821650|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:35535697|PMID:36988593 11857041 MRPL2 mitochondrial ribosomal protein L2 gene DOID:0050444 infantile Refsum disease ISO RGD:1316168 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11857041 MRPL2 mitochondrial ribosomal protein L2 gene DOID:630 genetic disease ISO RGD:1316168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857041 MRPL2 mitochondrial ribosomal protein L2 gene DOID:905 Zellweger syndrome ISO RGD:1316168 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11857055 TOX thymocyte selection associated high mobility group box gene DOID:630 genetic disease ISO RGD:1605410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857073 FAM81B family with sequence similarity 81 member B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603176 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11857073 FAM81B family with sequence similarity 81 member B gene DOID:630 genetic disease ISO RGD:1603176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857073 FAM81B family with sequence similarity 81 member B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11857073 FAM81B family with sequence similarity 81 member B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603176 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11857153 PMF1 polyamine modulated factor 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1317520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11857153 PMF1 polyamine modulated factor 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1317520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11857153 PMF1 polyamine modulated factor 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1317520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11857153 PMF1 polyamine modulated factor 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1317520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11857153 PMF1 polyamine modulated factor 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1317520 D RGD:9068941 20200611 RGD PMID:19088041|REF_RGD_ID:30296651 11857153 PMF1 polyamine modulated factor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1317520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11857153 PMF1 polyamine modulated factor 1 gene DOID:4007 bladder carcinoma disease_progression ISO RGD:1317520 D RGD:9068941 20200611 RGD PMID:22682992|REF_RGD_ID:30296649 11857153 PMF1 polyamine modulated factor 1 gene DOID:5812 MHC class II deficiency ISO RGD:1317520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11857153 PMF1 polyamine modulated factor 1 gene DOID:630 genetic disease ISO RGD:1317520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857153 PMF1 polyamine modulated factor 1 gene DOID:9001620 Leukoaraiosis susceptibility ISO RGD:1317520 D RGD:9068941 20200611 RGD DNA:SNP: :rs2984613(human) PMID:31396257|REF_RGD_ID:30296652 11857153 PMF1 polyamine modulated factor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11857175 GCM1 glial cells missing transcription factor 1 gene DOID:630 genetic disease ISO RGD:1348704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857185 HS3ST2 heparan sulfate-glucosamine 3-sulfotransferase 2 gene DOID:1324 lung cancer ISO RGD:1346040 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:12527896|REF_RGD_ID:2317633 11857185 HS3ST2 heparan sulfate-glucosamine 3-sulfotransferase 2 gene DOID:1793 pancreatic cancer ISO RGD:1346040 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:12527896|REF_RGD_ID:2317633 11857185 HS3ST2 heparan sulfate-glucosamine 3-sulfotransferase 2 gene DOID:219 colon cancer ISO RGD:1346040 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:12527896|REF_RGD_ID:2317633 11857185 HS3ST2 heparan sulfate-glucosamine 3-sulfotransferase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1346040 D RGD:9068941 20220708 RGD DNA:hypermethylation PMID:27777637|REF_RGD_ID:152998954 11857185 HS3ST2 heparan sulfate-glucosamine 3-sulfotransferase 2 gene DOID:630 genetic disease ISO RGD:1346040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857191 FAT3 FAT atypical cadherin 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1351260 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 11857191 FAT3 FAT atypical cadherin 3 gene DOID:1059 intellectual disability ISO RGD:1351260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11857191 FAT3 FAT atypical cadherin 3 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1351260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 11857191 FAT3 FAT atypical cadherin 3 gene DOID:630 genetic disease ISO RGD:1351260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857191 FAT3 FAT atypical cadherin 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1351260 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay 11857226 MCUB mitochondrial calcium uniporter dominant negative subunit beta gene DOID:630 genetic disease ISO RGD:1602886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857282 TMED6 transmembrane p24 trafficking protein 6 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1346090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11857282 TMED6 transmembrane p24 trafficking protein 6 gene DOID:630 genetic disease ISO RGD:1346090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857290 SELENOP selenoprotein P gene DOID:0050860 colorectal adenoma ISO RGD:737591 D RGD:9068941 20220407 RGD mRNA:decreased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 11857290 SELENOP selenoprotein P gene DOID:0080199 colorectal carcinoma ISO RGD:737591 D RGD:9068941 20220407 RGD mRNA:decreased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 11857290 SELENOP selenoprotein P gene DOID:12336 male infertility ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17961124 11857290 SELENOP selenoprotein P gene DOID:1289 neurodegenerative disease ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 11857290 SELENOP selenoprotein P gene DOID:289 endometriosis ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11857290 SELENOP selenoprotein P gene DOID:305 carcinoma ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 11857290 SELENOP selenoprotein P gene DOID:657 adenoma ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18483336 11857290 SELENOP selenoprotein P gene DOID:863 nervous system disease ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14704310|PMID:17961124 11857290 SELENOP selenoprotein P gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 11857290 SELENOP selenoprotein P gene DOID:9001191 Cadmium Poisoning ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20643113 11857290 SELENOP selenoprotein P gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11857290 SELENOP selenoprotein P gene DOID:9002304 Prostatic Neoplasms ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12235003 11857290 SELENOP selenoprotein P gene DOID:9002955 Nerve Degeneration ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18172410 11857290 SELENOP selenoprotein P gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11857290 SELENOP selenoprotein P gene DOID:9005172 Lung Neoplasms ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19058871 11857290 SELENOP selenoprotein P gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 11857290 SELENOP selenoprotein P gene DOID:9007692 Insulin Resistance ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14714311 11857290 SELENOP selenoprotein P gene DOID:9008443 Colorectal Neoplasms ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18483336 11857299 PKM pyruvate kinase M1/2 gene DOID:0080600 COVID-19 ISO RGD:737501 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11857299 PKM pyruvate kinase M1/2 gene DOID:11476 osteoporosis ISO RGD:737501 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 11857299 PKM pyruvate kinase M1/2 gene DOID:2717 Bloom syndrome ISO RGD:737501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11857299 PKM pyruvate kinase M1/2 gene DOID:305 carcinoma ISO RGD:737501 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11857299 PKM pyruvate kinase M1/2 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:737501 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32078667 11857299 PKM pyruvate kinase M1/2 gene DOID:3320 Tay-Sachs disease ISO RGD:737501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 11857299 PKM pyruvate kinase M1/2 gene DOID:630 genetic disease ISO RGD:737501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857299 PKM pyruvate kinase M1/2 gene DOID:684 hepatocellular carcinoma ISO RGD:737501 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 11857299 PKM pyruvate kinase M1/2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737501 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11857299 PKM pyruvate kinase M1/2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737501 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048980|PMID:15654357 11857299 PKM pyruvate kinase M1/2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737501 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11857299 PKM pyruvate kinase M1/2 gene DOID:9256 colorectal cancer ISO RGD:737501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11857334 CDC20 cell division cycle 20 gene DOID:0080600 COVID-19 ISO RGD:731833 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11857334 CDC20 cell division cycle 20 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:731833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11857334 CDC20 cell division cycle 20 gene DOID:630 genetic disease ISO RGD:731833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857334 CDC20 cell division cycle 20 gene DOID:684 hepatocellular carcinoma ISO RGD:731833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11857334 CDC20 cell division cycle 20 gene DOID:9007104 Oocyte/Zygote/Embryo Maturation Arrest 14 ISO RGD:731833 D RGD:7240710 20230505 OMIM 11857334 CDC20 cell division cycle 20 gene DOID:9007104 Oocyte/Zygote/Embryo Maturation Arrest 14 ISO RGD:731833 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 14 PMID:32666501|PMID:33683667|PMID:33898437|PMID:34218387 11857349 NUDT22 nudix hydrolase 22 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1601846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11857349 NUDT22 nudix hydrolase 22 gene DOID:1059 intellectual disability ISO RGD:1601846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11857349 NUDT22 nudix hydrolase 22 gene DOID:3070 high grade glioma ISO RGD:1601846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11857349 NUDT22 nudix hydrolase 22 gene DOID:630 genetic disease ISO RGD:1601846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857367 AMD1 adenosylmethionine decarboxylase 1 gene DOID:0112221 developmental and epileptic encephalopathy 87 ISO RGD:1351440 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 87 PMID:25741868|PMID:32330417|PMID:33134521|PMID:33495529|PMID:33568421 11857367 AMD1 adenosylmethionine decarboxylase 1 gene DOID:10283 prostate cancer ISO RGD:1351440 D RGD:9068941 20200609 RGD protein:increased expression:prostate PMID:30397274|REF_RGD_ID:14390073 11857367 AMD1 adenosylmethionine decarboxylase 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1351440 D RGD:9068941 20200609 RGD DNA:SNP: :rs1279590(human) PMID:30650190|REF_RGD_ID:14390072 11857367 AMD1 adenosylmethionine decarboxylase 1 gene DOID:630 genetic disease ISO RGD:1351440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857367 AMD1 adenosylmethionine decarboxylase 1 gene DOID:9002569 Overweight ISO RGD:1351440 D RGD:9068941 20200609 RGD DNA:SNP: :rs2796749(human) PMID:22496743|REF_RGD_ID:14390074 11857388 DOT1L DOT1 like histone lysine methyltransferase gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1315377 D RGD:9068941 20220825 MouseDO OMIM:115200 11857388 DOT1L DOT1 like histone lysine methyltransferase gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1315376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 11857388 DOT1L DOT1 like histone lysine methyltransferase gene DOID:3910 lung adenocarcinoma ISO RGD:1315376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 11857388 DOT1L DOT1 like histone lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1315376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857388 DOT1L DOT1 like histone lysine methyltransferase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315376 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32814769 11857388 DOT1L DOT1 like histone lysine methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11857388 DOT1L DOT1 like histone lysine methyltransferase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1315376 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:31888761 11857388 DOT1L DOT1 like histone lysine methyltransferase gene DOID:9008582 Developmental Disease ISO RGD:1315376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11857388 DOT1L DOT1 like histone lysine methyltransferase gene DOID:9953 acute biphenotypic leukemia treatment ISO RGD:1315376 D RGD:9068941 20200609 RGD PMID:23801631|REF_RGD_ID:9588291 11857420 LDB1 LIM domain binding 1 gene DOID:630 genetic disease ISO RGD:1321219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857420 LDB1 LIM domain binding 1 gene DOID:9467 nail-patella syndrome ISO RGD:1321220 D RGD:9068941 20220825 MouseDO OMIM:161200 11857462 ARL6IP1 ADP ribosylation factor like GTPase 6 interacting protein 1 gene DOID:0110812 hereditary spastic paraplegia 61 ISO RGD:1345801 D RGD:7240710 20180130 OMIM 11857462 ARL6IP1 ADP ribosylation factor like GTPase 6 interacting protein 1 gene DOID:0110812 hereditary spastic paraplegia 61 ISO RGD:1345801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 61 PMID:16199547|PMID:17576681|PMID:24482476|PMID:27848944|PMID:28471035|PMID:28492532|PMID:9536098 11857462 ARL6IP1 ADP ribosylation factor like GTPase 6 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1345801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11857462 ARL6IP1 ADP ribosylation factor like GTPase 6 interacting protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 11857467 GMPPA GDP-mannose pyrophosphorylase A gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1607034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11857467 GMPPA GDP-mannose pyrophosphorylase A gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1607034 D RGD:7240710 20180130 OMIM 11857467 GMPPA GDP-mannose pyrophosphorylase A gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1607034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME | ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:24035193|PMID:25741868|PMID:28492532|PMID:28574218|PMID:29593478 11857467 GMPPA GDP-mannose pyrophosphorylase A gene DOID:1148 polydactyly ISO RGD:1607034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 11857467 GMPPA GDP-mannose pyrophosphorylase A gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1607034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11857467 GMPPA GDP-mannose pyrophosphorylase A gene DOID:630 genetic disease ISO RGD:1607034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11857467 GMPPA GDP-mannose pyrophosphorylase A gene DOID:8534 gastroesophageal reflux disease ISO RGD:1607034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastroesophageal reflux PMID:24035193 11857467 GMPPA GDP-mannose pyrophosphorylase A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11857467 GMPPA GDP-mannose pyrophosphorylase A gene DOID:9008086 Developmental Disabilities ISO RGD:1607034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24035193 11857509 GCN1 GCN1 activator of EIF2AK4 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1312843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 11857509 GCN1 GCN1 activator of EIF2AK4 gene DOID:630 genetic disease ISO RGD:1312843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857579 BRD4 bromodomain containing 4 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1316385 D RGD:9068941 20200609 RGD PMID:23759512|REF_RGD_ID:9586353 11857579 BRD4 bromodomain containing 4 gene DOID:0050888 syndromic intellectual disability ISO RGD:1316385 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:35887114 11857579 BRD4 bromodomain containing 4 gene DOID:0050902 medulloblastoma ISO RGD:1316385 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:24231268|PMID:31594641 11857579 BRD4 bromodomain containing 4 gene DOID:1059 intellectual disability ISO RGD:1316385 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intellectual disability 11857579 BRD4 bromodomain containing 4 gene DOID:10605 short bowel syndrome ISO RGD:1316385 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital short bowel syndrome 1 PMID:25741868 11857579 BRD4 bromodomain containing 4 gene DOID:10907 microcephaly ISO RGD:1316385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 11857579 BRD4 bromodomain containing 4 gene DOID:11725 Cornelia de Lange syndrome ISO RGD:1316385 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: De Lange syndrome PMID:25741868|PMID:34035299 11857579 BRD4 bromodomain containing 4 gene DOID:12679 nephrocalcinosis ISO RGD:1316386 D RGD:9068941 20220825 MouseDO 11857579 BRD4 bromodomain containing 4 gene DOID:1909 melanoma ISO RGD:1316385 D RGD:9068941 20200609 RGD protein:mRNA:skin: PMID:23950209|REF_RGD_ID:9586346 11857579 BRD4 bromodomain containing 4 gene DOID:219 colon cancer ISO RGD:1316385 D RGD:9068941 20200609 RGD PMID:22120039|REF_RGD_ID:9586351 11857579 BRD4 bromodomain containing 4 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1316385 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:bladder: PMID:25120803|REF_RGD_ID:9586352 11857579 BRD4 bromodomain containing 4 gene DOID:3068 glioblastoma ISO RGD:1316385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26455392|PMID:27388964 11857579 BRD4 bromodomain containing 4 gene DOID:3347 osteosarcoma ISO RGD:1316385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24646477 11857579 BRD4 bromodomain containing 4 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:1316386 D RGD:9068941 20200609 RGD PMID:23759512|REF_RGD_ID:9586353 11857579 BRD4 bromodomain containing 4 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1316385 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:thyroid PMID:26707881|REF_RGD_ID:11085509 11857579 BRD4 bromodomain containing 4 gene DOID:630 genetic disease ISO RGD:1316385 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19828451|PMID:28492532 11857579 BRD4 bromodomain containing 4 gene DOID:6432 pulmonary hypertension ISO RGD:1316385 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26224795 11857579 BRD4 bromodomain containing 4 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1316385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25877301 11857579 BRD4 bromodomain containing 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1316385 D RGD:9068941 20200609 RGD PMID:23950209|REF_RGD_ID:9586346 11857579 BRD4 bromodomain containing 4 gene DOID:9002221 Hyperplasia ISO RGD:1316385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25242322 11857579 BRD4 bromodomain containing 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 11857579 BRD4 bromodomain containing 4 gene DOID:9002928 Colonic Neoplasms ISO RGD:1316385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26752646 11857579 BRD4 bromodomain containing 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11857579 BRD4 bromodomain containing 4 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1316385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26707881 11857579 BRD4 bromodomain containing 4 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1316386 D RGD:9068941 20200609 RGD protein:increased expression:heart: PMID:23939492|REF_RGD_ID:9586348 11857579 BRD4 bromodomain containing 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1316385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11857579 BRD4 bromodomain containing 4 gene DOID:9007661 Dwarfism ISO RGD:1316385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11857579 BRD4 bromodomain containing 4 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1316386 D RGD:9068941 20230209 RGD mRNA,protein:increased expression:heart PMID:33982231|REF_RGD_ID:155883171 11857579 BRD4 bromodomain containing 4 gene DOID:9008582 Developmental Disease ISO RGD:1316385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11857579 BRD4 bromodomain containing 4 gene DOID:9119 acute myeloid leukemia ISO RGD:1316386 D RGD:9068941 20200609 RGD PMID:21814200|REF_RGD_ID:9586350 11857579 BRD4 bromodomain containing 4 gene DOID:987 alopecia ISO RGD:1316385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25242322 11857605 SMIM15 small integral membrane protein 15 gene DOID:630 genetic disease ISO RGD:2293892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857605 SMIM15 small integral membrane protein 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2293892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11857612 NABP2 nucleic acid binding protein 2 gene DOID:630 genetic disease ISO RGD:1601970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857629 ELOVL6 ELOVL fatty acid elongase 6 gene DOID:6000 congestive heart failure ISO RGD:1345221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 11857629 ELOVL6 ELOVL fatty acid elongase 6 gene DOID:630 genetic disease ISO RGD:1345221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857629 ELOVL6 ELOVL fatty acid elongase 6 gene DOID:9970 obesity ISO RGD:1332205 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:31988048|REF_RGD_ID:21403676 11857649 MAN1A2 mannosidase alpha class 1A member 2 gene DOID:630 genetic disease ISO RGD:1320278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857679 CDC123 cell division cycle 123 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:733862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11857679 CDC123 cell division cycle 123 gene DOID:630 genetic disease ISO RGD:733862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857696 TGM5 transglutaminase 5 gene DOID:2717 Bloom syndrome ISO RGD:1318367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11857696 TGM5 transglutaminase 5 gene DOID:630 genetic disease ISO RGD:1318367 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16380904|PMID:19440220|PMID:20164844|PMID:22036214|PMID:22622422|PMID:24019772|PMID:24628291|PMID:25644735|PMID:25741868|PMID:26707537|PMID:29242947 11857696 TGM5 transglutaminase 5 gene DOID:9002384 Peeling Skin Syndrome 1 ISO RGD:1318367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peeling skin syndrome 1 PMID:22622422 11857696 TGM5 transglutaminase 5 gene DOID:9002697 Peeling Skin Syndrome 2 ISO RGD:1318367 D RGD:7240710 20180130 OMIM 11857696 TGM5 transglutaminase 5 gene DOID:9002697 Peeling Skin Syndrome 2 ISO RGD:1318367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acral peeling skin syndrome PMID:16380904|PMID:19440220|PMID:20164844|PMID:21469335|PMID:22036214|PMID:22622422|PMID:24019772|PMID:24628291|PMID:25644735|PMID:25741868|PMID:26091878|PMID:26707537|PMID:26925801|PMID:28492532|PMID:29242947 11857696 TGM5 transglutaminase 5 gene DOID:9256 colorectal cancer ISO RGD:1318367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11857716 MYRF myelin regulatory factor gene DOID:0050773 paraganglioma ISO RGD:1315345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:22241717|PMID:26096992|PMID:28492532 11857716 MYRF myelin regulatory factor gene DOID:0080634 nanophthalmos ISO RGD:1315345 D RGD:9068941 20230323 RGD DNA:mutations:cds: PMID:31048900|REF_RGD_ID:197810045 11857716 MYRF myelin regulatory factor gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1315345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11857716 MYRF myelin regulatory factor gene DOID:10283 prostate cancer ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11857716 MYRF myelin regulatory factor gene DOID:1059 intellectual disability ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11857716 MYRF myelin regulatory factor gene DOID:1405 primary angle-closure glaucoma ISO RGD:1315345 D RGD:9068941 20230323 RGD DNA:mutations:multiple: PMID:36129575|REF_RGD_ID:199225554 11857716 MYRF myelin regulatory factor gene DOID:1682 congenital heart disease ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868|PMID:30532227 11857716 MYRF myelin regulatory factor gene DOID:1826 epilepsy ISO RGD:1315345 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11857716 MYRF myelin regulatory factor gene DOID:1923 disorder of sexual development ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation PMID:25741868 11857716 MYRF myelin regulatory factor gene DOID:3526 cerebral infarction ISO RGD:1315345 D RGD:9068941 20230323 RGD DNA:SNP:exon:rs174535(human) PMID:36193932|REF_RGD_ID:213230151 11857716 MYRF myelin regulatory factor gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1315345 D RGD:9068941 20230323 RGD DNA:mutations:multiple: PMID:30532227|REF_RGD_ID:200226345 11857716 MYRF myelin regulatory factor gene DOID:4297 scimitar syndrome ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scimitar anomaly PMID:25741868 11857716 MYRF myelin regulatory factor gene DOID:630 genetic disease ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857716 MYRF myelin regulatory factor gene DOID:8466 retinal degeneration ISO RGD:1615698 D RGD:9068941 20230323 RGD PMID:31048900|REF_RGD_ID:197810045 11857716 MYRF myelin regulatory factor gene DOID:9000039 Spinal Cord Injuries ameliorates ISO RGD:1306622 D RGD:9068941 20230323 RGD PMID:27370227|REF_RGD_ID:213230157 11857716 MYRF myelin regulatory factor gene DOID:9000486 Nanophthalmos 1 ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nanophthalmos 1 11857716 MYRF myelin regulatory factor gene DOID:9003497 Mild Encephalitis/Encephalopathy with Reversible Myelin Vacuolization ISO RGD:1315345 D RGD:7240710 20190417 OMIM 11857716 MYRF myelin regulatory factor gene DOID:9003497 Mild Encephalitis/Encephalopathy with Reversible Myelin Vacuolization ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalitis/encephalopathy, mild, with reversible myelin vacuolization PMID:20042198|PMID:25741868|PMID:29265453 11857716 MYRF myelin regulatory factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315345 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11857716 MYRF myelin regulatory factor gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:1315345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:22241717|PMID:26096992|PMID:28492532 11857716 MYRF myelin regulatory factor gene DOID:9007553 neurotoxicity treatment ISO RGD:1306622 D RGD:9068941 20230323 RGD PMID:33166664|REF_RGD_ID:213230154 11857716 MYRF myelin regulatory factor gene DOID:9007788 Cardiac-Urogenital Syndrome ISO RGD:1315345 D RGD:7240710 20190501 OMIM 11857716 MYRF myelin regulatory factor gene DOID:9007788 Cardiac-Urogenital Syndrome ISO RGD:1315345 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiac-urogenital syndrome PMID:25741868|PMID:29446546|PMID:30070761|PMID:30532227|PMID:30985895|PMID:31266062|PMID:31633846|PMID:34782754 11857716 MYRF myelin regulatory factor gene DOID:9008091 Optic Nerve Injuries ISO RGD:1306622 D RGD:9068941 20230323 RGD mRNA:decreased expression: oligodendrocyte PMID:29915135|REF_RGD_ID:213230153 11857716 MYRF myelin regulatory factor gene DOID:9008386 Hydrops Fetalis ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868 11857716 MYRF myelin regulatory factor gene DOID:9008582 Developmental Disease ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11857716 MYRF myelin regulatory factor gene DOID:9565 dextrocardia ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dextrocardia PMID:25741868|PMID:30532227 11857716 MYRF myelin regulatory factor gene DOID:9834 hyperopia ISO RGD:1315345 D RGD:9068941 20230323 RGD DNA:mutations:multiple: PMID:36129575|REF_RGD_ID:199225554 11857761 OOEP oocyte expressed protein gene DOID:3659 sialuria ISO RGD:1351084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 11857761 OOEP oocyte expressed protein gene DOID:630 genetic disease ISO RGD:1351084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857767 KCNH7 potassium voltage-gated channel subfamily H member 7 gene DOID:12849 autistic disorder ISO RGD:734396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 11857767 KCNH7 potassium voltage-gated channel subfamily H member 7 gene DOID:630 genetic disease ISO RGD:734396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857790 ACAD8 acyl-CoA dehydrogenase family member 8 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1344764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11857790 ACAD8 acyl-CoA dehydrogenase family member 8 gene DOID:5419 schizophrenia ISO RGD:1344764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11857790 ACAD8 acyl-CoA dehydrogenase family member 8 gene DOID:630 genetic disease ISO RGD:1344764 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16857760|PMID:17304052|PMID:17576681|PMID:24635911|PMID:25741868|PMID:28492532|PMID:32778825|PMID:33432785|PMID:9536098 11857790 ACAD8 acyl-CoA dehydrogenase family member 8 gene DOID:9000217 Stomach Neoplasms ISO RGD:1344764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11857790 ACAD8 acyl-CoA dehydrogenase family member 8 gene DOID:9000918 Disease Progression ISO RGD:1344764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11857790 ACAD8 acyl-CoA dehydrogenase family member 8 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1344764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11857790 ACAD8 acyl-CoA dehydrogenase family member 8 gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1344764 D RGD:7240710 20180130 OMIM 11857790 ACAD8 acyl-CoA dehydrogenase family member 8 gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1344764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:12359132|PMID:15505379|PMID:16199547|PMID:16857760|PMID:17304052|PMID:17576681|PMID:17924841|PMID:21109224|PMID:23255084|PMID:24635911|PMID:25333069|PMID:25689098|PMID:25741868|PMID:28053874|PMID:28492532|PMID:30253142|PMID:30626930|PMID:31813752|PMID:32778825|PMID:33432785|PMID:9536098|PMID:9889013 11857810 PROCR protein C receptor gene DOID:12365 malaria disease_progression ISO RGD:1314349 D RGD:9068941 20210507 RGD PMID:27671831|REF_RGD_ID:126848795 11857810 PROCR protein C receptor gene DOID:13001 carotid stenosis ISO RGD:1305991 D RGD:9068941 20200609 RGD associated with Neointima PMID:21903947|REF_RGD_ID:13515129 11857810 PROCR protein C receptor gene DOID:2843 long QT syndrome ISO RGD:1314349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11857810 PROCR protein C receptor gene DOID:3021 acute kidney failure treatment ISO RGD:1305991 D RGD:9068941 20200609 RGD associated with Sepsis PMID:23807243|REF_RGD_ID:10755583 11857810 PROCR protein C receptor gene DOID:3393 coronary artery disease ISO RGD:1314349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28530674 11857810 PROCR protein C receptor gene DOID:630 genetic disease ISO RGD:1314349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857810 PROCR protein C receptor gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:1305991 D RGD:9068941 20200609 RGD PMID:27771530|REF_RGD_ID:13515125 11857810 PROCR protein C receptor gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:1314350 D RGD:9068941 20200609 RGD PMID:27771530|REF_RGD_ID:13515125 11857810 PROCR protein C receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11857810 PROCR protein C receptor gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1305991 D RGD:9068941 20200609 RGD PMID:20095324|REF_RGD_ID:13515130 11857810 PROCR protein C receptor gene DOID:9005372 Inflammation ISO RGD:1314349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23774263 11857810 PROCR protein C receptor gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:1305991 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:25688263|REF_RGD_ID:13515127 11857810 PROCR protein C receptor gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:1305991 D RGD:9068941 20200609 RGD PMID:24749346|REF_RGD_ID:13515128 11857810 PROCR protein C receptor gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:1305991 D RGD:9068941 20200609 RGD PMID:26994471|REF_RGD_ID:13515126 11857823 HAND1 heart and neural crest derivatives expressed 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:737010 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11857823 HAND1 heart and neural crest derivatives expressed 1 gene DOID:630 genetic disease ISO RGD:737010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11857823 HAND1 heart and neural crest derivatives expressed 1 gene DOID:9000046 Poisoning ISO RGD:737010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21964422 11857823 HAND1 heart and neural crest derivatives expressed 1 gene DOID:9003936 Cardiomegaly ISO RGD:621206 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart ventricle PMID:12359233|REF_RGD_ID:727442 11857823 HAND1 heart and neural crest derivatives expressed 1 gene DOID:9003936 Cardiomegaly ISO RGD:737011 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle PMID:12359233|REF_RGD_ID:727442 11857823 HAND1 heart and neural crest derivatives expressed 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737010 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11857823 HAND1 heart and neural crest derivatives expressed 1 gene DOID:9009087 Hypoplastic Left Heart Syndrome 1 ISO RGD:737010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome 1 PMID:28492532 11857823 HAND1 heart and neural crest derivatives expressed 1 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:737010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome PMID:28492532 11857829 SH3BP4 SH3 domain binding protein 4 gene DOID:630 genetic disease ISO RGD:731485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857838 FKBP5 FKBP prolyl isomerase 5 gene DOID:0050553 JMP syndrome ISO RGD:1319338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11857838 FKBP5 FKBP prolyl isomerase 5 gene DOID:0080600 COVID-19 ISO RGD:1319338 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11857838 FKBP5 FKBP prolyl isomerase 5 gene DOID:1470 major depressive disorder ISO RGD:1319338 D RGD:7240710 20180130 OMIM 11857838 FKBP5 FKBP prolyl isomerase 5 gene DOID:1470 major depressive disorder ISO RGD:1319338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Major depressive disorder, increased recurrence of depressive episodes in, susceptibility to PMID:15565110 11857838 FKBP5 FKBP prolyl isomerase 5 gene DOID:2055 post-traumatic stress disorder ISO RGD:1319338 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Post-traumatic stress disorder PMID:18349090 11857838 FKBP5 FKBP prolyl isomerase 5 gene DOID:2841 asthma ISO RGD:1319338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma 11857838 FKBP5 FKBP prolyl isomerase 5 gene DOID:289 endometriosis ISO RGD:1319338 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11857838 FKBP5 FKBP prolyl isomerase 5 gene DOID:630 genetic disease ISO RGD:1319338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857838 FKBP5 FKBP prolyl isomerase 5 gene DOID:7148 rheumatoid arthritis ISO RGD:1319338 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 11857838 FKBP5 FKBP prolyl isomerase 5 gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:1319338 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25115650 11857838 FKBP5 FKBP prolyl isomerase 5 gene DOID:9003548 Infant, Newborn, Diseases ISO RGD:1319338 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25115650 11857859 SLC8A3 solute carrier family 8 member A3 gene DOID:10283 prostate cancer ISO RGD:732656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11857859 SLC8A3 solute carrier family 8 member A3 gene DOID:10652 Alzheimer's disease ISO RGD:732656 D RGD:9068941 20200609 RGD protein:altered expression:parietal cortex, synaptosome: PMID:21382638|REF_RGD_ID:13628395 11857859 SLC8A3 solute carrier family 8 member A3 gene DOID:1824 status epilepticus ISO RGD:620197 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:15461673|REF_RGD_ID:2316980 11857859 SLC8A3 solute carrier family 8 member A3 gene DOID:1824 status epilepticus ISO RGD:732656 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20888801 11857859 SLC8A3 solute carrier family 8 member A3 gene DOID:2316 brain ischemia ISO RGD:620197 D RGD:9068941 20200609 RGD PMID:16107787|REF_RGD_ID:2316979 11857859 SLC8A3 solute carrier family 8 member A3 gene DOID:630 genetic disease ISO RGD:732656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857859 SLC8A3 solute carrier family 8 member A3 gene DOID:9004009 Reperfusion Injury ISO RGD:620197 D RGD:9068941 20200609 RGD PMID:18037393|REF_RGD_ID:2316975 11857880 NCF4 neutrophil cytosolic factor 4 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1314271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11857880 NCF4 neutrophil cytosolic factor 4 gene DOID:0070194 autosomal recessive chronic granulomatous disease 3 ISO RGD:1314271 D RGD:7240710 20180130 OMIM 11857880 NCF4 neutrophil cytosolic factor 4 gene DOID:0070194 autosomal recessive chronic granulomatous disease 3 ISO RGD:1314271 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE III | ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3 | ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III PMID:16199547|PMID:16880254|PMID:17576681|PMID:19692703|PMID:20167518|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29431110|PMID:29454792|PMID:29969437|PMID:31027832|PMID:34547651|PMID:9536098 11857880 NCF4 neutrophil cytosolic factor 4 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1314271 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11857880 NCF4 neutrophil cytosolic factor 4 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1314271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11857880 NCF4 neutrophil cytosolic factor 4 gene DOID:114 heart disease ISO RGD:1314271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16330681 11857880 NCF4 neutrophil cytosolic factor 4 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1314271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11857880 NCF4 neutrophil cytosolic factor 4 gene DOID:3265 chronic granulomatous disease ISO RGD:1314271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic granulomatous disease PMID:19692703|PMID:28492532|PMID:29969437|PMID:34034819 11857880 NCF4 neutrophil cytosolic factor 4 gene DOID:630 genetic disease ISO RGD:1314271 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11857880 NCF4 neutrophil cytosolic factor 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1314271 D RGD:9068941 20210205 RGD DNA:polymorphism, SNP:cds (rs729749) (human) PMID:17897462|REF_RGD_ID:41404710 11857880 NCF4 neutrophil cytosolic factor 4 gene DOID:8778 Crohn's disease ISO RGD:1314271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17435756 11857897 C1H1orf94 chromosome 1 C1orf94 homolog gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1602848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11857897 C1H1orf94 chromosome 1 C1orf94 homolog gene DOID:630 genetic disease ISO RGD:1602848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857911 HMSD histocompatibility minor serpin domain containing gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1602170 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11857911 HMSD histocompatibility minor serpin domain containing gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1602170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 11857911 HMSD histocompatibility minor serpin domain containing gene DOID:630 genetic disease ISO RGD:1602170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857918 BCL7A BAF chromatin remodeling complex subunit BCL7A gene DOID:630 genetic disease ISO RGD:1319851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857949 SLC35A1 solute carrier family 35 member A1 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1322776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:24033266|PMID:25741868|PMID:28492532 11857949 SLC35A1 solute carrier family 35 member A1 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1322776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:24033266|PMID:25741868|PMID:28492532 11857949 SLC35A1 solute carrier family 35 member A1 gene DOID:0060275 pontocerebellar hypoplasia type 6 ISO RGD:1322776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy fatal infantile with mitochondrial respiratory chain defects PMID:25741868|PMID:28492532 11857949 SLC35A1 solute carrier family 35 member A1 gene DOID:0070258 congenital disorder of glycosylation type IIf ISO RGD:1322776 D RGD:7240710 20180130 OMIM 11857949 SLC35A1 solute carrier family 35 member A1 gene DOID:0070258 congenital disorder of glycosylation type IIf ISO RGD:1322776 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf, MODIFIER OF | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2F | ClinVar Annotator: match by term: SLC35A1-CDG PMID:15576474|PMID:21864493|PMID:23873973|PMID:24033266|PMID:25552652|PMID:25741868|PMID:28492532|PMID:28856833|PMID:30115659 11857949 SLC35A1 solute carrier family 35 member A1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1322776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:24033266|PMID:25741868|PMID:28492532 11857949 SLC35A1 solute carrier family 35 member A1 gene DOID:630 genetic disease ISO RGD:1322776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11857964 SLC25A34 solute carrier family 25 member 34 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606920 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11857964 SLC25A34 solute carrier family 25 member 34 gene DOID:630 genetic disease ISO RGD:1606920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857964 SLC25A34 solute carrier family 25 member 34 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1606920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23721890|PMID:28492532 11857977 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1319106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I 11857977 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1319106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:11743580|PMID:25741868|PMID:28492532|PMID:31673878 11857977 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:1319106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate PMID:25741868|PMID:28492532 11857977 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ISO RGD:1319106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 PMID:28492532 11857977 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:1319106 D RGD:7240710 20180130 OMIM 11857977 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:1319106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K PMID:11743579|PMID:11743580|PMID:12499475|PMID:12566285|PMID:12601710|PMID:12707075|PMID:14561495|PMID:15192818|PMID:15805163|PMID:16172208|PMID:16199547|PMID:17039978|PMID:17433678|PMID:18021315|PMID:18231710|PMID:18421898|PMID:18492089|PMID:18504680|PMID:18812441|PMID:18991200|PMID:19089472|PMID:19500985|PMID:19782751|PMID:20232219|PMID:20301641|PMID:20301711|PMID:20685671|PMID:20849849|PMID:21199105|PMID:21212451|PMID:21519004|PMID:21681106|PMID:21692914|PMID:21753178|PMID:21840889|PMID:21890626|PMID:22206013|PMID:22546700|PMID:23456260|PMID:23628762|PMID:23963299|PMID:25231362|PMID:25741868|PMID:26467025|PMID:26525999|PMID:26848201|PMID:27549087|PMID:28220846|PMID:28244113|PMID:28492532|PMID:28495047|PMID:28751717|PMID:29372391|PMID:31673878|PMID:32183277|PMID:32376792|PMID:33187793|PMID:33903021 11857977 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C ISO RGD:1319106 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G327D (human) PMID:21365284|REF_RGD_ID:12738395 11857977 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:0110185 Charcot-Marie-Tooth disease type 4A ISO RGD:1319106 D RGD:7240710 20180130 OMIM 11857977 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:0110185 Charcot-Marie-Tooth disease type 4A ISO RGD:1319106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A PMID:11743579|PMID:11743580|PMID:12499475|PMID:12566285|PMID:12601710|PMID:12707075|PMID:12868504|PMID:14561495|PMID:15192818|PMID:15377708|PMID:15469949|PMID:15805163|PMID:15944907|PMID:16172208|PMID:16199547|PMID:17039978|PMID:17433678|PMID:17576681|PMID:18021315|PMID:18231710|PMID:18421898|PMID:18492089|PMID:18504680|PMID:18812441|PMID:18991200|PMID:19340293|PMID:19500985|PMID:19782751|PMID:20232219|PMID:20301641|PMID:20301711|PMID:20685671|PMID:20849849|PMID:21199105|PMID:21212451|PMID:21322820|PMID:21326314|PMID:21365284|PMID:21519004|PMID:21692914|PMID:21753178|PMID:21840889|PMID:21890626|PMID:21965300|PMID:22206013|PMID:22546700|PMID:22971097|PMID:23456260|PMID:23466821|PMID:23628762|PMID:23963299|PMID:25231362|PMID:25429913|PMID:25614874|PMID:257|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26525999|PMID:26648837|PMID:26848201|PMID:27549087|PMID:27841286|PMID:28220846|PMID:28244113|PMID:28492532|PMID:28495047|PMID:28751717|PMID:28902413|PMID:29184355|PMID:29372391|PMID:31673878|PMID:31827005|PMID:32183277|PMID:32298515|PMID:32376792|PMID:33136338|PMID:33179230|PMID:33187793|PMID:33219631|PMID:33477664|PMID:33903021|PMID:34169998|PMID:34366782|PMID:9536098 11857977 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:0110201 Charcot-Marie-Tooth disease recessive intermediate A ISO RGD:1319106 D RGD:7240710 20180130 OMIM 11857977 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:0110201 Charcot-Marie-Tooth disease recessive intermediate A ISO RGD:1319106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate A PMID:11743580|PMID:12499475|PMID:12566285|PMID:14561495|PMID:16172208|PMID:16199547|PMID:17039978|PMID:17433678|PMID:18021315|PMID:18504680|PMID:18812441|PMID:18991200|PMID:19500985|PMID:20232219|PMID:20301711|PMID:21212451|PMID:21322820|PMID:21365284|PMID:21890626|PMID:25231362|PMID:25614874|PMID:25741868|PMID:26467025|PMID:27549087|PMID:28220846|PMID:28492532|PMID:31673878|PMID:32376792|PMID:33477664 11857977 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1319106 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:14561495|PMID:17039978|PMID:17433678|PMID:18504680|PMID:18991200|PMID:19500985|PMID:20232219|PMID:20301711|PMID:25231362|PMID:25741868|PMID:27549087|PMID:28492532 11857977 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1319106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11743580|PMID:12499475|PMID:12566285|PMID:12601710|PMID:12843336|PMID:12868504|PMID:14561495|PMID:15019704|PMID:15192818|PMID:15377708|PMID:15469949|PMID:15805163|PMID:15944907|PMID:16172208|PMID:16199547|PMID:16343542|PMID:17001820|PMID:17039978|PMID:17433678|PMID:18021315|PMID:18062449|PMID:18421898|PMID:18492089|PMID:18504680|PMID:18812441|PMID:18991200|PMID:19340293|PMID:19500985|PMID:19782751|PMID:20232219|PMID:20301641|PMID:20301711|PMID:20685671|PMID:20849849|PMID:21199105|PMID:21322820|PMID:21326314|PMID:21519004|PMID:21692914|PMID:21753178|PMID:21890626|PMID:21965300|PMID:22206013|PMID:22546700|PMID:22730194|PMID:22971097|PMID:23456260|PMID:23466821|PMID:23628762|PMID:23963299|PMID:24078732|PMID:24627108|PMID:25231362|PMID:25337607|PMID:25429913|PMID:25614874|PMID:257|PMID:25741868|PMID:26467025|PMID:26525999|PMID:26848201|PMID:27549087|PMID:27841286|PMID:28220846|PMID:28244113|PMID:28492532|PMID:28495047|PMID:28751717|PMID:29372391|PMID:31673878|PMID:32376792|PMID:33187793|PMID:34366782 11857977 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:1389 polyneuropathy ISO RGD:1319106 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:14561495|PMID:17039978|PMID:17433678|PMID:18504680|PMID:18991200|PMID:19500985|PMID:20232219|PMID:20301711|PMID:25231362|PMID:25741868|PMID:27549087|PMID:28492532 11857977 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:2491 sensory peripheral neuropathy ISO RGD:1319106 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sensory neuropathy PMID:14561495|PMID:17039978|PMID:17433678|PMID:18504680|PMID:18991200|PMID:19500985|PMID:20232219|PMID:20301711|PMID:25231362|PMID:25741868|PMID:27549087|PMID:28492532 11857977 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:574 peripheral nervous system disease ISO RGD:1319106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:15377708|PMID:18421898|PMID:18504680|PMID:20301641|PMID:20301711|PMID:21965300|PMID:25429913|PMID:25741868|PMID:28244113|PMID:28492532|PMID:28751717|PMID:31673878 11857977 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:630 genetic disease ISO RGD:1319106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12499475|PMID:14561495|PMID:15805163|PMID:17039978|PMID:17433678|PMID:17576681|PMID:18021315|PMID:18492089|PMID:18504680|PMID:18812441|PMID:18991200|PMID:19500985|PMID:19782751|PMID:20232219|PMID:20301641|PMID:20301711|PMID:20849849|PMID:21199105|PMID:21322820|PMID:21326314|PMID:21753178|PMID:21890626|PMID:22206013|PMID:22546700|PMID:25231362|PMID:25614874|PMID:257|PMID:25741868|PMID:26467025|PMID:27549087|PMID:28244113|PMID:28492532|PMID:28495047|PMID:32376792|PMID:34366782|PMID:9536098 11857977 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:7319 axonal neuropathy ISO RGD:1319106 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Axonal neuropathy PMID:14561495|PMID:17039978|PMID:17433678|PMID:18504680|PMID:18991200|PMID:19500985|PMID:20232219|PMID:20301711|PMID:25231362|PMID:25741868|PMID:27549087|PMID:28492532 11857977 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:870 neuropathy ISO RGD:1319106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:15377708|PMID:18421898|PMID:18504680|PMID:20301641|PMID:20301711|PMID:21965300|PMID:25429913|PMID:25741868|PMID:28244113|PMID:28492532|PMID:28751717|PMID:31673878 11857977 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:9003332 Charcot-Marie-Tooth Disease Type 4A, Axonal Form ISO RGD:1319106 D RGD:7240710 20180130 OMIM 11857977 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:9003332 Charcot-Marie-Tooth Disease Type 4A, Axonal Form ISO RGD:1319106 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 4A, axonal form | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | ClinVar Annotator: match by term: Charcot-Marie-Tooth with Vocal Cord Paresis | ClinVar Annotator: match by term: Neuropathy, axonal, with vocal cord paresis, autosomal recessive PMID:11743579|PMID:11743580|PMID:12499475|PMID:12566285|PMID:12601710|PMID:12707075|PMID:14561495|PMID:15019704|PMID:15805163|PMID:17039978|PMID:17433678|PMID:18504680|PMID:18991200|PMID:19500985|PMID:20232219|PMID:20301641|PMID:20301711|PMID:20849849|PMID:21365284|PMID:21519004|PMID:21840889|PMID:25231362|PMID:25741868|PMID:26467025|PMID:26848201|PMID:27549087|PMID:28492532|PMID:32376792|PMID:33187793|PMID:33477664 11857977 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:9005421 Paget Disease of Bone 5, Juvenile-Onset ISO RGD:1319106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Elevated alkaline phosphatase PMID:14561495|PMID:17039978|PMID:17433678|PMID:18504680|PMID:18991200|PMID:19500985|PMID:20232219|PMID:20301711|PMID:25231362|PMID:25741868|PMID:28492532 11857977 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:9005421 Paget Disease of Bone 5, Juvenile-Onset ISO RGD:1319106 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Elevated alkaline phosphatase PMID:14561495|PMID:17039978|PMID:17433678|PMID:18504680|PMID:18991200|PMID:19500985|PMID:20232219|PMID:20301711|PMID:25231362|PMID:25741868|PMID:27549087|PMID:28492532 11857977 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:9008305 Talipes Cavus ISO RGD:1319106 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pes cavus PMID:28492532 11857987 PYY peptide YY gene DOID:0080074 neural tube defect ISO RGD:1348512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17400914 11857987 PYY peptide YY gene DOID:10652 Alzheimer's disease ISO RGD:1348512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11709213 11857987 PYY peptide YY gene DOID:13250 diarrhea ISO RGD:1348512 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19925840 11857987 PYY peptide YY gene DOID:630 genetic disease ISO RGD:1348512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857987 PYY peptide YY gene DOID:9001109 Anorexia ISO RGD:1348512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22903826|PMID:29689362 11857987 PYY peptide YY gene DOID:9007692 Insulin Resistance ISO RGD:1348512 D RGD:9068941 20200609 RGD protein:decreased expression PMID:17045646|REF_RGD_ID:1625281 11857987 PYY peptide YY gene DOID:9008385 Vomiting ISO RGD:1348512 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33581213 11857987 PYY peptide YY gene DOID:9008972 Hyperammonemia ISO RGD:1348512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperammonemia, type III PMID:28492532 11857987 PYY peptide YY gene DOID:9970 obesity ISO RGD:1348512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:10898754|PMID:11825645|PMID:16368708 11857999 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:10652 Alzheimer's disease ISO RGD:1343923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562|PMID:25741868 11857999 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:12800 mucopolysaccharidosis VI ISO RGD:735196 D RGD:9068941 20200609 RGD protein:increased expression:intervertebral disk PMID:23192728|REF_RGD_ID:10043113 11857999 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:5426 primary ovarian insufficiency ISO RGD:1343923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11857999 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:630 genetic disease ISO RGD:1343923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11857999 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:7148 rheumatoid arthritis ISO RGD:1343923 D RGD:9068941 20200609 RGD protein:alternative form:synovium PMID:11801682|REF_RGD_ID:10043106 11857999 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:8398 osteoarthritis ISO RGD:1343923 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.R614H (human) PMID:22961118|REF_RGD_ID:10043102 11857999 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:8398 osteoarthritis ISO RGD:1343923 D RGD:9068941 20200609 RGD protein:alternative form:synovium PMID:11801682|REF_RGD_ID:10043106 11857999 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:8398 osteoarthritis ISO RGD:1552871 D RGD:9068941 20200609 RGD PMID:23982761|REF_RGD_ID:10043101 11857999 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:8398 osteoarthritis ISO RGD:735196 D RGD:9068941 20200609 RGD mRNA:increased expression:cartilage PMID:17530714|REF_RGD_ID:2300093 11857999 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:8398 osteoarthritis disease_progression ISO RGD:1552871 D RGD:9068941 20200609 RGD PMID:23954517|REF_RGD_ID:10043107 11857999 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:8398 osteoarthritis no_association ISO RGD:1343923 D RGD:9068941 20200609 RGD DNA:missense mutations:exon: (rs226794, rs2830585) (human) PMID:18240210|REF_RGD_ID:10043105 11857999 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:8398 osteoarthritis treatment ISO RGD:1552871 D RGD:9068941 20200609 RGD PMID:22084394|REF_RGD_ID:10003165 11857999 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:8398 osteoarthritis treatment ISO RGD:1552871 D RGD:9068941 20200609 RGD associated with Bone Diseases, Metabolic PMID:22432033|REF_RGD_ID:10043110 11857999 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:8398 osteoarthritis treatment ISO RGD:735196 D RGD:9068941 20200609 RGD PMID:23546441|REF_RGD_ID:10043103 11857999 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:90 degenerative disc disease ISO RGD:735196 D RGD:9068941 20200609 RGD PMID:22394620|REF_RGD_ID:10043115 11857999 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:90 degenerative disc disease ISO RGD:735196 D RGD:9068941 20200609 RGD mRNA:increased expression:intervertebral disk of cervical vertebra PMID:20948465|REF_RGD_ID:8661231 11857999 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11857999 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:9005369 Hepatomegaly ISO RGD:1343923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 11857999 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:735196 D RGD:9068941 20200609 RGD mRNA:increased expression:cartilage PMID:22670655|REF_RGD_ID:10043109 11857999 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:9006281 Temporomandibular Joint Disorders ISO RGD:1343923 D RGD:9068941 20200609 RGD PMID:18830934|REF_RGD_ID:10043108 11857999 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:9006281 Temporomandibular Joint Disorders severity ISO RGD:1552871 D RGD:9068941 20200609 RGD mRNA:increased expression:temporomandibular joint PMID:24316289|REF_RGD_ID:10043104 11858012 WFDC8 WAP four-disulfide core domain 8 gene DOID:2234 focal epilepsy ISO RGD:1347537 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11858012 WFDC8 WAP four-disulfide core domain 8 gene DOID:630 genetic disease ISO RGD:1347537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858012 WFDC8 WAP four-disulfide core domain 8 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1347537 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11858023 EFR3A EFR3 homolog A gene DOID:630 genetic disease ISO RGD:1604382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858057 SLC17A3 solute carrier family 17 member 3 gene DOID:13189 gout ISO RGD:1344101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uric acid concentration, serum, quantitative trait locus 4 PMID:20810651 11858057 SLC17A3 solute carrier family 17 member 3 gene DOID:13189 gout susceptibility ISO RGD:1344101 D RGD:7240710 20230505 OMIM 11858057 SLC17A3 solute carrier family 17 member 3 gene DOID:630 genetic disease ISO RGD:1344101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858081 METTL21C methyltransferase 21C, AARS1 lysine gene DOID:0110878 holoprosencephaly 5 ISO RGD:1606433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 11858081 METTL21C methyltransferase 21C, AARS1 lysine gene DOID:14701 propionic acidemia ISO RGD:1606433 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 11858081 METTL21C methyltransferase 21C, AARS1 lysine gene DOID:630 genetic disease ISO RGD:1606433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858081 METTL21C methyltransferase 21C, AARS1 lysine gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1606433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11858081 METTL21C methyltransferase 21C, AARS1 lysine gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:1606433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532 11858089 S100A9 S100 calcium binding protein A9 gene DOID:0111940 immunodeficiency 42 ISO RGD:1352981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11858089 S100A9 S100 calcium binding protein A9 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1352981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11858089 S100A9 S100 calcium binding protein A9 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1352981 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11858089 S100A9 S100 calcium binding protein A9 gene DOID:10608 celiac disease ISO RGD:1352981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 11858089 S100A9 S100 calcium binding protein A9 gene DOID:11054 urinary bladder cancer ISO RGD:1352981 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:17970044|REF_RGD_ID:2316906 11858089 S100A9 S100 calcium binding protein A9 gene DOID:11054 urinary bladder cancer ISO RGD:620267 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:17970044|REF_RGD_ID:2316906 11858089 S100A9 S100 calcium binding protein A9 gene DOID:11054 urinary bladder cancer ISO RGD:733175 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:17970044|REF_RGD_ID:2316906 11858089 S100A9 S100 calcium binding protein A9 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1352981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 11858089 S100A9 S100 calcium binding protein A9 gene DOID:1540 parathyroid carcinoma ISO RGD:1352981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11858089 S100A9 S100 calcium binding protein A9 gene DOID:5812 MHC class II deficiency ISO RGD:1352981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11858089 S100A9 S100 calcium binding protein A9 gene DOID:630 genetic disease ISO RGD:1352981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858089 S100A9 S100 calcium binding protein A9 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352981 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 11858089 S100A9 S100 calcium binding protein A9 gene DOID:820 myocarditis ISO RGD:1352981 D RGD:9068941 20200609 RGD PMID:19151078|REF_RGD_ID:2316903 11858089 S100A9 S100 calcium binding protein A9 gene DOID:9000058 Keloid ISO RGD:1352981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 11858089 S100A9 S100 calcium binding protein A9 gene DOID:9000955 Acute Otitis Media ISO RGD:8709084 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:mucosa of middle ear PMID:26711468|REF_RGD_ID:11553828 11858089 S100A9 S100 calcium binding protein A9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11858089 S100A9 S100 calcium binding protein A9 gene DOID:9002457 Experimental Arthritis ISO RGD:620267 D RGD:9068941 20200609 RGD PMID:8343166|REF_RGD_ID:633930 11858089 S100A9 S100 calcium binding protein A9 gene DOID:9002928 Colonic Neoplasms ISO RGD:1352981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 11858089 S100A9 S100 calcium binding protein A9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11858096 AGBL3 AGBL carboxypeptidase 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11858096 AGBL3 AGBL carboxypeptidase 3 gene DOID:630 genetic disease ISO RGD:1604170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858156 LOC100968283 olfactory receptor 5T1 gene DOID:1059 intellectual disability ISO RGD:1354464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11858156 LOC100968283 olfactory receptor 5T1 gene DOID:630 genetic disease ISO RGD:1354464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858157 LOC100968954 putative protein ZNF815 gene DOID:10283 prostate cancer ISO RGD:7245021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11858157 LOC100968954 putative protein ZNF815 gene DOID:11372 megacolon ISO RGD:7245021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11858157 LOC100968954 putative protein ZNF815 gene DOID:630 genetic disease ISO RGD:7245021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858166 SUN5 Sad1 and UNC84 domain containing 5 gene DOID:0070184 spermatogenic failure 16 ISO RGD:1314928 D RGD:7240710 20190315 OMIM 11858166 SUN5 Sad1 and UNC84 domain containing 5 gene DOID:0070184 spermatogenic failure 16 ISO RGD:1314928 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 16 PMID:25741868|PMID:27640305|PMID:28492532|PMID:29331481 11858166 SUN5 Sad1 and UNC84 domain containing 5 gene DOID:630 genetic disease ISO RGD:1314928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858182 TMEM88 transmembrane protein 88 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1601835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11858182 TMEM88 transmembrane protein 88 gene DOID:12177 common variable immunodeficiency ISO RGD:1601835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11858182 TMEM88 transmembrane protein 88 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1601835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11858182 TMEM88 transmembrane protein 88 gene DOID:2729 dyskeratosis congenita ISO RGD:1601835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11858182 TMEM88 transmembrane protein 88 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1601835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 11858182 TMEM88 transmembrane protein 88 gene DOID:630 genetic disease ISO RGD:1601835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858192 PIANP PILR alpha associated neural protein gene DOID:0060041 autism spectrum disorder ISO RGD:1312691 D RGD:9068941 20220825 MouseDO 11858192 PIANP PILR alpha associated neural protein gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1606434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11858192 PIANP PILR alpha associated neural protein gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1606434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11858192 PIANP PILR alpha associated neural protein gene DOID:0111621 Temtamy syndrome ISO RGD:1606434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11858192 PIANP PILR alpha associated neural protein gene DOID:630 genetic disease ISO RGD:1606434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858192 PIANP PILR alpha associated neural protein gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1606434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11858208 ACCSL 1-aminocyclopropane-1-carboxylate synthase homolog (inactive) like gene DOID:1059 intellectual disability ISO RGD:2302255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11858208 ACCSL 1-aminocyclopropane-1-carboxylate synthase homolog (inactive) like gene DOID:630 genetic disease ISO RGD:2302255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858224 SGPL1 sphingosine-1-phosphate lyase 1 gene DOID:0080265 nephrotic syndrome type 14 ISO RGD:1347742 D RGD:7240710 20190315 OMIM 11858224 SGPL1 sphingosine-1-phosphate lyase 1 gene DOID:0080265 nephrotic syndrome type 14 ISO RGD:1347742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 14 PMID:23232022|PMID:24777844|PMID:25741868|PMID:28165339|PMID:28165343|PMID:28181337|PMID:28492532|PMID:29127259|PMID:30517686|PMID:31130284|PMID:32233035|PMID:32860008|PMID:33074640 11858224 SGPL1 sphingosine-1-phosphate lyase 1 gene DOID:1184 nephrotic syndrome ISO RGD:1347742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:23232022|PMID:25741868|PMID:28165339|PMID:28165343|PMID:28492532|PMID:29127259|PMID:30517686|PMID:31130284|PMID:32233035|PMID:32860008|PMID:33074640 11858224 SGPL1 sphingosine-1-phosphate lyase 1 gene DOID:630 genetic disease ISO RGD:1347742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11858246 IFT140 intraflagellar transport 140 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1605413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:16199547|PMID:17576681|PMID:22503633|PMID:23418020|PMID:24009529|PMID:25741868|PMID:26216056|PMID:28288023|PMID:28492532|PMID:28559085|PMID:28724397|PMID:29068549|PMID:29688594|PMID:30773290|PMID:34429528|PMID:34890546|PMID:9536098 11858246 IFT140 intraflagellar transport 140 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1605413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 11858246 IFT140 intraflagellar transport 140 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1553664 D RGD:9068941 20220825 MouseDO OMIM:208500 11858246 IFT140 intraflagellar transport 140 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605413 D RGD:7240710 20180130 OMIM 11858246 IFT140 intraflagellar transport 140 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly PMID:16199547|PMID:17576681|PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:24183451|PMID:24698627|PMID:25640679|PMID:25741868|PMID:26216056|PMID:26359340|PMID:26766544|PMID:26968735|PMID:27058611|PMID:27874174|PMID:28041643|PMID:28288023|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28724397|PMID:28844315|PMID:28991257|PMID:29068549|PMID:29111861|PMID:29688594|PMID:29706353|PMID:29758562|PMID:30479745|PMID:30773290|PMID:30902645|PMID:31047384|PMID:31054281|PMID:31130284|PMID:31213501|PMID:31456290|PMID:31630094|PMID:31736247|PMID:31980526|PMID:32037395|PMID:32531858|PMID:32860008|PMID:33452237|PMID:33532864|PMID:33576794|PMID:33946315|PMID:34429528|PMID:34890546|PMID:9536098 11858246 IFT140 intraflagellar transport 140 gene DOID:10584 retinitis pigmentosa ISO RGD:1605413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:22503633|PMID:23418020|PMID:24009529|PMID:25741868|PMID:26216056|PMID:26497376|PMID:26766544|PMID:26968735|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29068549|PMID:29688594|PMID:30479745|PMID:31213501|PMID:31456290|PMID:31630094|PMID:31736247|PMID:31980526|PMID:32531858|PMID:33452237|PMID:34429528|PMID:34890546 11858246 IFT140 intraflagellar transport 140 gene DOID:10907 microcephaly ISO RGD:1605413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11858246 IFT140 intraflagellar transport 140 gene DOID:12712 nephronophthisis ISO RGD:1605413 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:17576681|PMID:22503633|PMID:25741868|PMID:28288023|PMID:28492532|PMID:28559085|PMID:28724397|PMID:28844315|PMID:29068549|PMID:29688594|PMID:29706353|PMID:30773290|PMID:9536098 11858246 IFT140 intraflagellar transport 140 gene DOID:14791 Leber congenital amaurosis ISO RGD:1605413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868 11858246 IFT140 intraflagellar transport 140 gene DOID:1826 epilepsy ISO RGD:1605413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11858246 IFT140 intraflagellar transport 140 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11858246 IFT140 intraflagellar transport 140 gene DOID:2661 myoepithelioma ISO RGD:1605413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11858246 IFT140 intraflagellar transport 140 gene DOID:630 genetic disease ISO RGD:1605413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11858246 IFT140 intraflagellar transport 140 gene DOID:8501 fundus dystrophy ISO RGD:1605413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:17576681|PMID:22503633|PMID:23418020|PMID:24009529|PMID:25741868|PMID:26216056|PMID:26766544|PMID:26968735|PMID:28492532|PMID:29688594|PMID:30479745|PMID:31213501|PMID:31736247|PMID:32037395|PMID:32531858|PMID:33452237|PMID:34890546|PMID:9536098 11858246 IFT140 intraflagellar transport 140 gene DOID:9009101 Retinitis Pigmentosa 80 ISO RGD:1605413 D RGD:7240710 20190315 OMIM 11858246 IFT140 intraflagellar transport 140 gene DOID:9009101 Retinitis Pigmentosa 80 ISO RGD:1605413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene | ClinVar Annotator: match by term: Retinitis pigmentosa 80 PMID:16199547|PMID:17576681|PMID:22503633|PMID:23418020|PMID:24009529|PMID:24698627|PMID:25741868|PMID:26216056|PMID:26359340|PMID:26766544|PMID:26968735|PMID:28288023|PMID:28492532|PMID:28559085|PMID:28724397|PMID:29068549|PMID:29111861|PMID:29688594|PMID:30479745|PMID:30773290|PMID:31054281|PMID:31130284|PMID:31630094|PMID:31736247|PMID:32037395|PMID:32531858|PMID:32860008|PMID:34429528|PMID:34890546|PMID:9536098 11858281 CABP2 calcium binding protein 2 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1348224 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:17576681|PMID:22981119|PMID:25741868|PMID:28492532|PMID:30303587|PMID:9536098 11858281 CABP2 calcium binding protein 2 gene DOID:0110537 autosomal recessive nonsyndromic deafness 93 ISO RGD:1348224 D RGD:7240710 20180130 OMIM 11858281 CABP2 calcium binding protein 2 gene DOID:0110537 autosomal recessive nonsyndromic deafness 93 ISO RGD:1348224 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 93 PMID:17576681|PMID:22981119|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30303587|PMID:9536098 11858281 CABP2 calcium binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1348224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11858281 CABP2 calcium binding protein 2 gene DOID:630 genetic disease ISO RGD:1348224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11858281 CABP2 calcium binding protein 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1348224 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11858281 CABP2 calcium binding protein 2 gene DOID:9004538 Hearing Loss ISO RGD:1348224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 11858281 CABP2 calcium binding protein 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1348224 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11858298 SAMD4A sterile alpha motif domain containing 4A gene DOID:0090043 dystonia 5 ISO RGD:1321222 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia 5 PMID:17111153|PMID:19332422|PMID:19491146|PMID:25557619|PMID:28492532|PMID:9667588 11858298 SAMD4A sterile alpha motif domain containing 4A gene DOID:0111805 syndromic microphthalmia 6 ISO RGD:1321222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies PMID:18252212|PMID:21340693|PMID:28492532 11858298 SAMD4A sterile alpha motif domain containing 4A gene DOID:303 substance-related disorder ISO RGD:1321222 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11858298 SAMD4A sterile alpha motif domain containing 4A gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1321222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:28580594 11858298 SAMD4A sterile alpha motif domain containing 4A gene DOID:630 genetic disease ISO RGD:1321222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0050473 Alstrom syndrome ISO RGD:737465 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30250467 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:737465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0060025 immunoglobulin alpha deficiency susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: :rs231770,rs16840252,rs231775(human) PMID:19020530|REF_RGD_ID:11344917 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0060060 non-Hodgkin lymphoma susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:49G>A(human) PMID:15114591|REF_RGD_ID:11352244 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:737465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26258847 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0080162 lupus nephritis ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:15146424|REF_RGD_ID:7204726 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0080846 latent autoimmune diabetes in adults ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :49A>G (human) PMID:12021137|REF_RGD_ID:2301997 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0081120 Graves ophthalmopathy ISO RGD:737465 D RGD:9068941 20200609 RGD associated with Graves Disease; DNA:SNP:promoter:-318C>T (human) PMID:16893393|REF_RGD_ID:7421511 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0081120 Graves ophthalmopathy no_association ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:22663548|REF_RGD_ID:7421521 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0081120 Graves ophthalmopathy severity ISO RGD:737465 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19734241|REF_RGD_ID:7421523 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:737465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0081267 graft-versus-host disease ISO RGD:737465 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14642129 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0081267 graft-versus-host disease treatment ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:7515723|REF_RGD_ID:11344912 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0081267 graft-versus-host disease treatment ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:7515723|REF_RGD_ID:11344912 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:737465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0110751 type 1 diabetes mellitus 12 ISO RGD:737465 D RGD:7240710 20180130 OMIM 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0110751 type 1 diabetes mellitus 12 ISO RGD:737465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 12 PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30377434|PMID:30940614 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:10325 silicosis ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:16831302|REF_RGD_ID:4891515 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:10608 celiac disease ISO RGD:737465 D RGD:7240710 20230505 OMIM 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:10608 celiac disease ISO RGD:737465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Celiac disease, susceptibility to, 3 | ClinVar Annotator: match by term: GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 3 PMID:10189842|PMID:10475192|PMID:11098935|PMID:11158025|PMID:12724780|PMID:15138458|PMID:15199380|PMID:15301861|PMID:15688186|PMID:24033266|PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30377434|PMID:30940614|PMID:8817351|PMID:9259273|PMID:9398726 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:10608 celiac disease susceptibility ISO RGD:737465 D RGD:9068941 20230506 RGD DNA:SNPs,haplotype: :rs231770,rs231775(human) PMID:19020530|REF_RGD_ID:11344917 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:11168 anogenital venereal wart ISO RGD:737465 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:11335 sarcoidosis ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:polymorphism:exon (human) PMID:14620161|REF_RGD_ID:4891520 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12132 granulomatosis with polyangiitis ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter,exon::-318C>T, (AT)repeats (human) PMID:12022356|REF_RGD_ID:7204724 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12236 primary biliary cholangitis disease_progression ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs: :rs231775, rs3087243, rs231725 (human) PMID:21594562|REF_RGD_ID:14398743 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12236 primary biliary cholangitis no_association ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:CDS:49A>G(human) PMID:17482523|REF_RGD_ID:14398725 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:CDS:60G>A(rs3087243)(human) PMID:16584111|REF_RGD_ID:14398744 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD autoimmune biliary cirrhosis; DNA:SNP:CDS:49A>G, significant association with G allele (p<0.0002) PMID:10782900|REF_RGD_ID:2301998 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12306 vitiligo ISO RGD:737465 D RGD:9068941 20200609 RGD associated with Autoimmune Diseases;DNA:polymorphisms: : PMID:15649153|REF_RGD_ID:7411687 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12306 vitiligo no_association ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs:multiple: PMID:18200060|REF_RGD_ID:7411697 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12306 vitiligo susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:3'UTR:rs3087243(human) PMID:21794098|REF_RGD_ID:7411696 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12306 vitiligo susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:exon:+49A>G rs231775)(human) PMID:19129082|REF_RGD_ID:7411699 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12361 Graves' disease ISO RGD:737465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19731979|PMID:21841780|PMID:23104008 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12361 Graves' disease ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:10369864|REF_RGD_ID:1300388 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12361 Graves' disease ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-318C>T (human) PMID:9672157|REF_RGD_ID:2302001 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12361 Graves' disease no_association ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-318C>T (human) PMID:9861324|REF_RGD_ID:2302000 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12361 Graves' disease susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :-318C>T(rs11571302)(human) PMID:14986169|REF_RGD_ID:7421515 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12361 Graves' disease susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :rs231779(human) PMID:20352109|REF_RGD_ID:7421517 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12361 Graves' disease susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs: :49G>A (rs231775),rs3087243,(AT)n-3'UTR(human) PMID:15785242|REF_RGD_ID:7421507 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12361 Graves' disease susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs:exon,intron:49A>G (rs231775),1822C>T(human) PMID:12780750|REF_RGD_ID:7421505 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12361 Graves' disease susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:49G>A(human) PMID:10404810|REF_RGD_ID:11352245 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12365 malaria disease_progression ISO RGD:737465 D RGD:9068941 20200807 RGD PMID:28892065|REF_RGD_ID:38455986 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12365 malaria treatment ISO RGD:737466 D RGD:9068941 20200807 RGD PMID:28892065|REF_RGD_ID:38455986 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12549 hepatitis A disease_progression ISO RGD:737465 D RGD:9068941 20201120 RGD PMID:26347518|REF_RGD_ID:40818419 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12894 Sjogren's syndrome ISO RGD:737465 D RGD:9068941 20200609 RGD mRNA:increased expression:salivary gland: PMID:12528117|REF_RGD_ID:7421519 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12894 Sjogren's syndrome susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: :+49A/G (rs231775),(rs3087243)(human) PMID:16869018|REF_RGD_ID:7421506 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:13241 Behcet's disease ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs: :1661A>G,49C>A(human) PMID:19563524|REF_RGD_ID:7411682 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:1394 urinary schistosomiasis susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs:multiple:Gabonese(human) PMID:22288822|REF_RGD_ID:7204674 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:14557 primary pulmonary hypertension ISO RGD:737465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:1612 breast cancer ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SPNs:multiple: PMID:17825114|REF_RGD_ID:7421502 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:1612 breast cancer ISO RGD:737465 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:20482250|REF_RGD_ID:7411684 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:1749 squamous cell carcinoma susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :rs3087243(human) PMID:19622768|REF_RGD_ID:7411686 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:1909 melanoma ISO RGD:737465 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21802280 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:1909 melanoma treatment ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs: :-11577G>A,rs3087243(human) PMID:23641913|REF_RGD_ID:7411681 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2043 hepatitis B disease_progression ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs: :-1722T>C(rs733618), 49A>G(rs231775)6230G>A(rs3087243)(human) PMID:15452244|REF_RGD_ID:14398731 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2048 autoimmune hepatitis susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs:exons:49A>G (rs231775), CT60 C > T(rs3087243)(human) PMID:30320190|REF_RGD_ID:14398726 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2377 multiple sclerosis ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:10082437|REF_RGD_ID:1358538 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2377 multiple sclerosis ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs: :rs3087243,rs11571302(human) PMID:19740340|REF_RGD_ID:7411672 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2377 multiple sclerosis no_association ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:CDS:49A>G (human) PMID:17942509|REF_RGD_ID:2301975 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2513 basal cell carcinoma susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :rs3087243(human) PMID:19622768|REF_RGD_ID:7411686 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2773 contact dermatitis ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:11348467|REF_RGD_ID:7421503 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2841 asthma ISO RGD:737465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28807506 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2841 asthma ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:16708626|PMID:18699801|REF_RGD_ID:4891510|REF_RGD_ID:4891516 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2841 asthma ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :rs3087243 (human) PMID:19895365|REF_RGD_ID:4891526 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2841 asthma ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:15316504|REF_RGD_ID:4891519 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2841 asthma ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, exon:-318C>T 49A>G (human) PMID:17469155|REF_RGD_ID:4891527 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2841 asthma ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:12956753|PMID:16677453|PMID:17237396|REF_RGD_ID:4891514|REF_RGD_ID:4891517|REF_RGD_ID:4891521 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2841 asthma no_association ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon:-1147C>T, -318C>T, 49A>G (human) PMID:16926542|REF_RGD_ID:4891528 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2841 asthma severity ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-318C>T (human) PMID:12114354|REF_RGD_ID:4891522 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2841 asthma severity ISO RGD:737465 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15871446|REF_RGD_ID:4891529 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2841 asthma treatment ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:11726402|REF_RGD_ID:11344922 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:21129004|REF_RGD_ID:4891499 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :-318C>T (rs5742909) (human) PMID:20732370|REF_RGD_ID:4891504 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:321 tropical spastic paraparesis ISO RGD:737465 D RGD:9068941 20200831 RGD mRNA:decreased expression: T cell PMID:20945034|REF_RGD_ID:38549361 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:3310 atopic dermatitis ISO RGD:737465 D RGD:9068941 20200609 RGD mRNA:increased expression:blood: PMID:22357516|REF_RGD_ID:7411700 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:3310 atopic dermatitis susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP,haplotype:exon,3'UTR:rs3087243,rs231775 (human) PMID:16445777|REF_RGD_ID:7411698 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:4450 renal cell carcinoma ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs:exons:rs3087243, rs231775 (human) PMID:17678726|REF_RGD_ID:7204723 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:4481 allergic rhinitis treatment ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:10436391|REF_RGD_ID:11344920 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:4483 rhinitis ISO RGD:737465 D RGD:9068941 20200609 RGD protein:increased expression:T cell PMID:17625281|REF_RGD_ID:4891512 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:10712436|REF_RGD_ID:6902936 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:10712436|REF_RGD_ID:6902936 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:4780 anti-basement membrane glomerulonephritis treatment ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:8206086|REF_RGD_ID:11352257 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:557 kidney disease susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD associated with Purpura, Schoenlein-Henoch;DNA:polymorphism:exon:49A>G(human) PMID:22700162|REF_RGD_ID:11344910 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:574 peripheral nervous system disease ISO RGD:737465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21228734 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:5773 oral submucous fibrosis ISO RGD:737465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:5844 myocardial infarction ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:CDS:49A>G (human) PMID:17652883|REF_RGD_ID:2301976 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:612 primary immunodeficiency disease ISO RGD:737465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25329329|PMID:25741868|PMID:28492532|PMID:30250467 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:630 genetic disease ISO RGD:737465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25213377|PMID:25329329|PMID:27102614|PMID:27908448|PMID:28492532|PMID:28960754|PMID:29200144|PMID:29330115|PMID:29729943|PMID:30443250|PMID:31993940|PMID:32499327 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:737465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:684 hepatocellular carcinoma ISO RGD:737465 D RGD:9068941 20200609 RGD protein:increased expression:CD4+ and CD8+ T cells: PMID:28648905|REF_RGD_ID:14398741 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs: :rs231775,rs231725(human) PMID:23432218|REF_RGD_ID:14398742 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:7148 rheumatoid arthritis ISO RGD:737465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:718 autoimmune hemolytic anemia susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:49G>A(p.T17A)(human) PMID:12555221|REF_RGD_ID:11352242 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:7188 autoimmune thyroiditis ISO RGD:737465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hashimoto thyroiditis PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30377434|PMID:30940614 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:7188 autoimmune thyroiditis susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :-318C>T(rs11571302)(human) PMID:14986169|REF_RGD_ID:7421515 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:7442 monoclonal gammopathy of uncertain significance susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:microsatellite polymorphism:exon: : PMID:11167807|REF_RGD_ID:11352247 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:783 end stage renal disease ISO RGD:737465 D RGD:9068941 20200609 RGD associated with Wegener Granulomatosis;DNA:polymorphisms:promoter,exon::-318C>T, (AT)repeats (human) PMID:15708894|REF_RGD_ID:7204725 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:820 myocarditis ISO RGD:61975 D RGD:9068941 20200609 RGD PMID:16198253|REF_RGD_ID:7204512 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:850 lung disease ISO RGD:737466 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:20385880|REF_RGD_ID:4891507 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:8893 psoriasis treatment ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:10974034|REF_RGD_ID:7411683 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9000081 Lymphatic Metastasis ISO RGD:737466 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:10611340|REF_RGD_ID:4891523 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:49A>G (human) PMID:12114354|REF_RGD_ID:4891522 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:18049334|REF_RGD_ID:7204722 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:737466 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:15701862|REF_RGD_ID:4891518 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9001285 Alcoholic Liver Diseases susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP::-318 T>C(rs5742909)(human) PMID:15208156|REF_RGD_ID:14398728 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:737465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737465 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:plasma: PMID:18026823|REF_RGD_ID:2312302 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:15914560|REF_RGD_ID:11352246 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:737465 D RGD:9068941 20200609 RGD protein:increased expression:T cell PMID:16094420|REF_RGD_ID:11344923 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:9223321|REF_RGD_ID:4891524 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9002457 Experimental Arthritis ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:7543497|REF_RGD_ID:7204519 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:61975 D RGD:9068941 20200609 RGD PMID:22354915|REF_RGD_ID:7204500 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9002720 Splenomegaly treatment ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:10676886|REF_RGD_ID:14398737 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:9379015|REF_RGD_ID:6902906 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9002805 Enterocolitis treatment ISO RGD:737465 D RGD:9068941 20200609 RGD associated with cancers; PMID:16710025|REF_RGD_ID:14398729 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs:exons:rs3087243, rs231775 Caucasian(human) PMID:19815671|REF_RGD_ID:7204687 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP,haplotype:exon,promoter:49A>G,-318 T>C(human) PMID:12696006|REF_RGD_ID:14398739 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9004118 Experimental Melanoma treatment ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:24041689|REF_RGD_ID:7411680 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9004150 Lymphadenopathy treatment ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:10676886|REF_RGD_ID:14398737 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9004236 Autoimmune Hypothyroidism ISO RGD:737465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPOTHYROIDISM, AUTOIMMUNE PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30377434|PMID:30940614 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9004283 Transplant Rejection ISO RGD:61975 D RGD:9068941 20200609 RGD PMID:18074399|REF_RGD_ID:7204518 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9004283 Transplant Rejection ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:14551031|REF_RGD_ID:7204516 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9004283 Transplant Rejection ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :rs733618, chinese(human) PMID:22418270|REF_RGD_ID:7204671 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9004283 Transplant Rejection ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:12096784|REF_RGD_ID:7204515 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9004283 Transplant Rejection susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :rs231775, korean(human) PMID:20940051|REF_RGD_ID:7204678 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9005167 Cryptogenic Cirrhosis susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :-318C>T(human) PMID:18049163|REF_RGD_ID:14398738 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9005372 Inflammation ISO RGD:737465 D RGD:9068941 20200609 RGD associated with Silicosis;protein:increased expression:T cell PMID:21072213|REF_RGD_ID:4891500 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:11481266|REF_RGD_ID:7421509 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:14528321|REF_RGD_ID:7204514 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:9407517|REF_RGD_ID:7204727 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:22189844|REF_RGD_ID:7204675 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9007355 Hashimoto Disease ISO RGD:737465 D RGD:7240710 20180130 OMIM 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9007355 Hashimoto Disease ISO RGD:737465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hashimoto Disease PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30377434|PMID:30940614 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9007355 Hashimoto Disease susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:cds:+49A/G (rs231775)(human) PMID:18752454|REF_RGD_ID:7421513 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:737465 D RGD:7240710 20180130 OMIM 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:737465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V | ClinVar Annotator: match by term: CTLA4 HAPLOINSUFFICIENCY WITH AUTOIMMUNE INFILTRATION | ClinVar Annotator: match by term: IMMUNE DYSREGULATION WITH AUTOIMMUNITY, IMMUNODEFICIENCY, AND LYMPHOPROLIFERATION PMID:10189842|PMID:10475192|PMID:11098935|PMID:11158025|PMID:11343122|PMID:12353035|PMID:12577056|PMID:12724780|PMID:15138458|PMID:15199380|PMID:15301861|PMID:15688186|PMID:16199547|PMID:17576681|PMID:19380800|PMID:24033266|PMID:25213377|PMID:25329329|PMID:25741868|PMID:25814141|PMID:26478010|PMID:26644313|PMID:26884280|PMID:27102614|PMID:27418640|PMID:27577878|PMID:27908448|PMID:28492532|PMID:28960754|PMID:28983403|PMID:29077208|PMID:29200144|PMID:29225858|PMID:29305966|PMID:29330115|PMID:29375547|PMID:29729943|PMID:29796761|PMID:30048690|PMID:30250467|PMID:30326257|PMID:30377434|PMID:30443250|PMID:30940614|PMID:31396201|PMID:31993940|PMID:32499327|PMID:32499645|PMID:32531373|PMID:34111452|PMID:8817351|PMID:9259273|PMID:9398726|PMID:9536098 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9007651 Chronic Bronchitis ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:19386687|REF_RGD_ID:4891509 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :-318C>T(human) PMID:16489681|REF_RGD_ID:14398727 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:737465 D RGD:7240710 20180130 OMIM 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:737465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to PMID:10189842|PMID:10475192|PMID:11098935|PMID:11158025|PMID:15138458|PMID:15301861|PMID:15688186|PMID:24033266|PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30377434|PMID:30940614|PMID:8817351|PMID:9259273|PMID:9398726 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9074 systemic lupus erythematosus disease_progression ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:19966213|REF_RGD_ID:7204684 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9119 acute myeloid leukemia ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:3'UTR:rs3087243(human) PMID:19092854|REF_RGD_ID:11344911 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9383 iridocyclitis ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:polymorphism: :-318C>T,(AT)16(human) PMID:17287608|REF_RGD_ID:7421512 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9538 multiple myeloma susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:microsatellite polymorphism:exon: : PMID:11167807|REF_RGD_ID:11352247 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:9259273|REF_RGD_ID:1300385 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:CDS, 3' utr:49G>A (rs231775), rs3087243 (human) PMID:18443194|REF_RGD_ID:2301974 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:CDS:49A>G, G allele significantly associated with T1DM in Italian and Spanish populations (p=0.004 for individual populations, p=0.0001 for combined I+S) PMID:8817351|REF_RGD_ID:2301958 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1661A>G (human) PMID:16671945|REF_RGD_ID:2301995 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:986 alopecia areata ISO RGD:737465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20596022 11858316 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:986 alopecia areata susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:3'UTR:rs3087243(human) PMID:23567921|REF_RGD_ID:7411701 11858327 SLC9A4 solute carrier family 9 member A4 gene DOID:0080685 aortic dissection ISO RGD:1606087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ascending aortic dissection PMID:34409081 11858327 SLC9A4 solute carrier family 9 member A4 gene DOID:630 genetic disease ISO RGD:1606087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858327 SLC9A4 solute carrier family 9 member A4 gene DOID:9002802 Acidoses ISO RGD:1606087 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20484819 11858345 C16H16orf92 chromosome 16 C16orf92 homolog gene DOID:0060019 coronin-1A deficiency ISO RGD:2306470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11858345 C16H16orf92 chromosome 16 C16orf92 homolog gene DOID:0060041 autism spectrum disorder ISO RGD:2306470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 11858345 C16H16orf92 chromosome 16 C16orf92 homolog gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:2306470 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 11858345 C16H16orf92 chromosome 16 C16orf92 homolog gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:2306470 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 11858345 C16H16orf92 chromosome 16 C16orf92 homolog gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:2306470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11858345 C16H16orf92 chromosome 16 C16orf92 homolog gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:2306470 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 11858345 C16H16orf92 chromosome 16 C16orf92 homolog gene DOID:1227 neutropenia ISO RGD:2306470 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 11858345 C16H16orf92 chromosome 16 C16orf92 homolog gene DOID:12849 autistic disorder ISO RGD:2306470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11858345 C16H16orf92 chromosome 16 C16orf92 homolog gene DOID:1882 atrial heart septal defect ISO RGD:2306470 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 11858345 C16H16orf92 chromosome 16 C16orf92 homolog gene DOID:5419 schizophrenia ISO RGD:2306470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11858345 C16H16orf92 chromosome 16 C16orf92 homolog gene DOID:630 genetic disease ISO RGD:2306470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858345 C16H16orf92 chromosome 16 C16orf92 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2306470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11858345 C16H16orf92 chromosome 16 C16orf92 homolog gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:2306470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11858345 C16H16orf92 chromosome 16 C16orf92 homolog gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:2306470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 11858345 C16H16orf92 chromosome 16 C16orf92 homolog gene DOID:9007876 Cone-Rod Dystrophy 22 ISO RGD:2306470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 22 PMID:33077892 11858353 IGSF8 immunoglobulin superfamily member 8 gene DOID:0060178 familial hemiplegic migraine ISO RGD:1322991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 11858353 IGSF8 immunoglobulin superfamily member 8 gene DOID:0060484 EAST syndrome ISO RGD:1322991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EAST syndrome PMID:28492532 11858353 IGSF8 immunoglobulin superfamily member 8 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1322991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11858353 IGSF8 immunoglobulin superfamily member 8 gene DOID:1540 parathyroid carcinoma ISO RGD:1322991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11858353 IGSF8 immunoglobulin superfamily member 8 gene DOID:630 genetic disease ISO RGD:1322991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858353 IGSF8 immunoglobulin superfamily member 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11858368 LOC100969955 olfactory receptor 2J3 gene DOID:11372 megacolon ISO RGD:1351141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11858368 LOC100969955 olfactory receptor 2J3 gene DOID:630 genetic disease ISO RGD:1351141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858374 DEFB115 defensin beta 115 gene DOID:630 genetic disease ISO RGD:1351953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858379 FBXL5 F-box and leucine rich repeat protein 5 gene DOID:0050777 Joubert syndrome ISO RGD:1315757 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11858379 FBXL5 F-box and leucine rich repeat protein 5 gene DOID:10283 prostate cancer ISO RGD:1315757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11858379 FBXL5 F-box and leucine rich repeat protein 5 gene DOID:630 genetic disease ISO RGD:1315757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858405 EFNB2 ephrin B2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1319867 D RGD:9068941 20220811 RGD protein:increased expression:oral mucosa (human) PMID:26044849|REF_RGD_ID:153323290 11858405 EFNB2 ephrin B2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1319867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11858405 EFNB2 ephrin B2 gene DOID:0080199 colorectal carcinoma ameliorates ISO RGD:1319867 D RGD:9068941 20220811 RGD human cells in mouse model PMID:26494468|REF_RGD_ID:153300950 11858405 EFNB2 ephrin B2 gene DOID:10534 stomach cancer ISO RGD:1319867 D RGD:9068941 20220811 RGD mRNA:increased expression:stomach (human) PMID:12136247|REF_RGD_ID:153323289 11858405 EFNB2 ephrin B2 gene DOID:1520 colon carcinoma ameliorates ISO RGD:1319867 D RGD:9068941 20220811 RGD human cells in mouse model PMID:15083195|REF_RGD_ID:153305907 11858405 EFNB2 ephrin B2 gene DOID:3748 esophagus squamous cell carcinoma ameliorates ISO RGD:1319867 D RGD:9068941 20220811 RGD human cells in mouse model PMID:29190834|REF_RGD_ID:153300948 11858405 EFNB2 ephrin B2 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:1319867 D RGD:9068941 20220811 RGD mRNA,protein:increased expression:esophagus squamous epithelium (human) PMID:31885720|REF_RGD_ID:153300949 11858405 EFNB2 ephrin B2 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1319867 D RGD:9068941 20220811 RGD mRNA:increased expression:esophagus squamous epithelium (human) PMID:17611172|REF_RGD_ID:153300947 11858405 EFNB2 ephrin B2 gene DOID:630 genetic disease ISO RGD:1319867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858405 EFNB2 ephrin B2 gene DOID:799 varicose veins ISO RGD:1319867 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:vein: PMID:26808710|REF_RGD_ID:11529441 11858405 EFNB2 ephrin B2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1309497 D RGD:9068941 20210625 RGD mRNA,protein:increased expression:fibroblast, astrocyte PMID:33794069|REF_RGD_ID:127285659 11858405 EFNB2 ephrin B2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1309497 D RGD:9068941 20210702 RGD protein:increased phosporylation:spinal cord PMID:12944508|REF_RGD_ID:127285804 11858405 EFNB2 ephrin B2 gene DOID:9000096 Lung Agenesis ISO RGD:1319867 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30106123 11858405 EFNB2 ephrin B2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1319867 D RGD:9068941 20220811 RGD associated with cholangiocarcinoma;protein:increased expression:biliary ductule (human) PMID:25012246|REF_RGD_ID:153305948 11858405 EFNB2 ephrin B2 gene DOID:9000970 Focal Nodular Hyperplasia ISO RGD:1319867 D RGD:9068941 20221110 RGD mRNA:decreased expression:liver PMID:23870033|REF_RGD_ID:155646133 11858405 EFNB2 ephrin B2 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:1309497 D RGD:9068941 20221201 RGD mRNA:increased expression:retina PMID:26670826|REF_RGD_ID:155663663 11858405 EFNB2 ephrin B2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1319867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11858405 EFNB2 ephrin B2 gene DOID:9004009 Reperfusion Injury ISO RGD:1319867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 11858405 EFNB2 ephrin B2 gene DOID:9005172 Lung Neoplasms ISO RGD:1319867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 11858405 EFNB2 ephrin B2 gene DOID:9007188 Liver Neoplasms ISO RGD:1319867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11858405 EFNB2 ephrin B2 gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:1319867 D RGD:9068941 20220811 RGD protein:increased expression:nasopharynx (human) PMID:23631129|REF_RGD_ID:153305949 11858405 EFNB2 ephrin B2 gene DOID:9778 irritable bowel syndrome ISO RGD:1309497 D RGD:9068941 20210604 RGD associated with trichuriasis;protein:increased expression:colonic muscularis: PMID:31601124|REF_RGD_ID:127229906 11858423 LOC100974357 olfactory receptor 5K3 gene DOID:4990 essential tremor ISO RGD:1347767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 11858423 LOC100974357 olfactory receptor 5K3 gene DOID:630 genetic disease ISO RGD:1347767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858427 ZSCAN1 zinc finger and SCAN domain containing 1 gene DOID:630 genetic disease ISO RGD:1346488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858436 SEC61A2 SEC61 translocon subunit alpha 2 gene DOID:0050770 polycystic liver disease ISO RGD:1314281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 11858436 SEC61A2 SEC61 translocon subunit alpha 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1314281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11858436 SEC61A2 SEC61 translocon subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1314281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858436 SEC61A2 SEC61 translocon subunit alpha 2 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1314281 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 11858458 MUCL1 mucin like 1 gene DOID:630 genetic disease ISO RGD:1606746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858486 HNRNPR heterogeneous nuclear ribonucleoprotein R gene DOID:630 genetic disease ISO RGD:736504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16757948|PMID:26795593|PMID:28492532|PMID:31079900|PMID:9421497 11858486 HNRNPR heterogeneous nuclear ribonucleoprotein R gene DOID:9001294 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES ISO RGD:736504 D RGD:7240710 20221214 OMIM 11858486 HNRNPR heterogeneous nuclear ribonucleoprotein R gene DOID:9001294 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES ISO RGD:736504 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities PMID:16757948|PMID:26795593|PMID:31079900|PMID:9421497 11858486 HNRNPR heterogeneous nuclear ribonucleoprotein R gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:736504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11858486 HNRNPR heterogeneous nuclear ribonucleoprotein R gene DOID:9008939 Breast Neoplasms ISO RGD:736504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 11858511 MFAP3 microfibril associated protein 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350797 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11858511 MFAP3 microfibril associated protein 3 gene DOID:630 genetic disease ISO RGD:1350797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858511 MFAP3 microfibril associated protein 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350797 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11858539 MAOB monoamine oxidase B gene DOID:0050771 pheochromocytoma ISO RGD:732580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22569243 11858539 MAOB monoamine oxidase B gene DOID:0060693 Brunner syndrome ISO RGD:732580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brunner syndrome PMID:17296899|PMID:20340138|PMID:22382802|PMID:28492532|PMID:30452590|PMID:8211186 11858539 MAOB monoamine oxidase B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11858539 MAOB monoamine oxidase B gene DOID:10652 Alzheimer's disease ISO RGD:732580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21075085|PMID:7816197 11858539 MAOB monoamine oxidase B gene DOID:10652 Alzheimer's disease ISO RGD:732580 D RGD:9068941 20200609 RGD PMID:1627256|REF_RGD_ID:10046060 11858539 MAOB monoamine oxidase B gene DOID:12849 autistic disorder ISO RGD:732580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11858539 MAOB monoamine oxidase B gene DOID:12858 Huntington's disease ISO RGD:732580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21075085 11858539 MAOB monoamine oxidase B gene DOID:13382 megaloblastic anemia ISO RGD:732580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7430361 11858539 MAOB monoamine oxidase B gene DOID:13413 hepatic encephalopathy ISO RGD:732580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10564534 11858539 MAOB monoamine oxidase B gene DOID:13580 cholestasis ISO RGD:3041 D RGD:9068941 20200609 RGD protein:altered activity:hypothalamus (rat) PMID:18802767|REF_RGD_ID:2307352 11858539 MAOB monoamine oxidase B gene DOID:14330 Parkinson's disease ISO RGD:3041 D RGD:9068941 20200609 RGD protein:increased activity:striatum (rat) PMID:17417741|REF_RGD_ID:2316771 11858539 MAOB monoamine oxidase B gene DOID:14330 Parkinson's disease ISO RGD:732580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21318773 11858539 MAOB monoamine oxidase B gene DOID:14330 Parkinson's disease ISO RGD:732580 D RGD:9068941 20200609 RGD PMID:9129714|REF_RGD_ID:1358484 11858539 MAOB monoamine oxidase B gene DOID:289 endometriosis ISO RGD:732580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 11858539 MAOB monoamine oxidase B gene DOID:5419 schizophrenia ISO RGD:732580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20479760 11858539 MAOB monoamine oxidase B gene DOID:630 genetic disease ISO RGD:732580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858539 MAOB monoamine oxidase B gene DOID:9002928 Colonic Neoplasms ISO RGD:732580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 11858539 MAOB monoamine oxidase B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11858539 MAOB monoamine oxidase B gene DOID:9005832 Amyloid Plaques ISO RGD:732580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7816197 11858539 MAOB monoamine oxidase B gene DOID:9006024 Hypotension ISO RGD:732580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11834493 11858539 MAOB monoamine oxidase B gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:732580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:22197486|PMID:23076834|PMID:23354975|PMID:23913813|PMID:25972376|PMID:28492532 11858558 ANKRD63 ankyrin repeat domain 63 gene DOID:2717 Bloom syndrome ISO RGD:5132170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11858558 ANKRD63 ankyrin repeat domain 63 gene DOID:630 genetic disease ISO RGD:5132170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858558 ANKRD63 ankyrin repeat domain 63 gene DOID:9256 colorectal cancer ISO RGD:5132170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11858564 PCYT1A phosphate cytidylyltransferase 1A, choline gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:737380 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 11858564 PCYT1A phosphate cytidylyltransferase 1A, choline gene DOID:0080016 spina bifida ISO RGD:737380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17184542 11858564 PCYT1A phosphate cytidylyltransferase 1A, choline gene DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy ISO RGD:737380 D RGD:7240710 20180130 OMIM 11858564 PCYT1A phosphate cytidylyltransferase 1A, choline gene DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy ISO RGD:737380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome PMID:15326626|PMID:21412974|PMID:24387990|PMID:24387991|PMID:25741868|PMID:28272537|PMID:28492532|PMID:30559292 11858564 PCYT1A phosphate cytidylyltransferase 1A, choline gene DOID:12849 autistic disorder ISO RGD:737380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11858564 PCYT1A phosphate cytidylyltransferase 1A, choline gene DOID:14791 Leber congenital amaurosis ISO RGD:737380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868 11858564 PCYT1A phosphate cytidylyltransferase 1A, choline gene DOID:5419 schizophrenia ISO RGD:737380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11858564 PCYT1A phosphate cytidylyltransferase 1A, choline gene DOID:630 genetic disease ISO RGD:737380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15326626|PMID:24387990|PMID:28492532|PMID:30559292 11858564 PCYT1A phosphate cytidylyltransferase 1A, choline gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11858582 NUP43 nucleoporin 43 gene DOID:630 genetic disease ISO RGD:1605529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858594 CCT6A chaperonin containing TCP1 subunit 6A gene DOID:0050724 PSPH deficiency ISO RGD:1312394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency PMID:28492532 11858594 CCT6A chaperonin containing TCP1 subunit 6A gene DOID:12849 autistic disorder ISO RGD:1312394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11858594 CCT6A chaperonin containing TCP1 subunit 6A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11858594 CCT6A chaperonin containing TCP1 subunit 6A gene DOID:630 genetic disease ISO RGD:1312394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858611 NDUFA12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:0112087 nuclear type mitochondrial complex I deficiency 23 ISO RGD:1603389 D RGD:7240710 20190315 OMIM 11858611 NDUFA12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:0112087 nuclear type mitochondrial complex I deficiency 23 ISO RGD:1603389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 PMID:21617257|PMID:25741868|PMID:28454995|PMID:28492532|PMID:32341820|PMID:33715266|PMID:35141356 11858611 NDUFA12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:3652 Leigh disease ISO RGD:1603389 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:25741868|PMID:28492532|PMID:35141356 11858611 NDUFA12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:630 genetic disease ISO RGD:1603389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11858611 NDUFA12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1603389 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:35141356 11858628 WNT4 Wnt family member 4 gene DOID:0060369 Parkinson's disease 6 ISO RGD:733867 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11858628 WNT4 Wnt family member 4 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:733867 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11858628 WNT4 Wnt family member 4 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:733867 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11858628 WNT4 Wnt family member 4 gene DOID:0111526 Mullerian aplasia and hyperandrogenism ISO RGD:733867 D RGD:7240710 20180130 OMIM 11858628 WNT4 Wnt family member 4 gene DOID:0111526 Mullerian aplasia and hyperandrogenism ISO RGD:733867 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mullerian aplasia and hyperandrogenism PMID:12016514|PMID:15317892|PMID:16959810|PMID:18182450|PMID:18987495|PMID:25741868|PMID:28492532 11858628 WNT4 Wnt family member 4 gene DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome ISO RGD:733867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mayer-Rokitansky-Kuster-Hauser syndrome PMID:25741868 11858628 WNT4 Wnt family member 4 gene DOID:2871 endometrial carcinoma ISO RGD:733867 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:vs normal endometrium PMID:9099960|REF_RGD_ID:2291875 11858628 WNT4 Wnt family member 4 gene DOID:3021 acute kidney failure ISO RGD:621348 D RGD:9068941 20200609 RGD PMID:12707392|REF_RGD_ID:727218 11858628 WNT4 Wnt family member 4 gene DOID:4001 ovarian carcinoma ISO RGD:733867 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:25581431 11858628 WNT4 Wnt family member 4 gene DOID:557 kidney disease ISO RGD:733867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11832423 11858628 WNT4 Wnt family member 4 gene DOID:630 genetic disease ISO RGD:733867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858628 WNT4 Wnt family member 4 gene DOID:9001611 Urogenital Abnormalities ISO RGD:733867 D RGD:9068941 20200609 RGD utero-vaginal atresia (MRKH), OMIM:277000 PMID:15317892|REF_RGD_ID:1599857 11858628 WNT4 Wnt family member 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11858628 WNT4 Wnt family member 4 gene DOID:9002739 Female Urogenital Diseases ISO RGD:733867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 11858628 WNT4 Wnt family member 4 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:733867 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11858628 WNT4 Wnt family member 4 gene DOID:9006947 Fibroadenoma ISO RGD:733867 D RGD:9068941 20200609 RGD breast fibroadenoma; mRNA:increased expression:tumor:increased vs normal and malignant breast tissue (p=0.001) PMID:8168088|REF_RGD_ID:2291878 11858628 WNT4 Wnt family member 4 gene DOID:9007661 Dwarfism ISO RGD:733867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17505543 11858628 WNT4 Wnt family member 4 gene DOID:9008540 46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs ISO RGD:733867 D RGD:7240710 20180130 OMIM 11858628 WNT4 Wnt family member 4 gene DOID:9008540 46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs ISO RGD:733867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SERKAL syndrome PMID:18179883|PMID:25741868 11858636 ZNF280C zinc finger protein 280C gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11858636 ZNF280C zinc finger protein 280C gene DOID:12849 autistic disorder ISO RGD:1349297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11858636 ZNF280C zinc finger protein 280C gene DOID:630 genetic disease ISO RGD:1349297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858672 TRIM38 tripartite motif containing 38 gene DOID:630 genetic disease ISO RGD:1349740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858687 CORO1A coronin 1A gene DOID:0060019 coronin-1A deficiency ISO RGD:732928 D RGD:7240710 20180130 OMIM 11858687 CORO1A coronin 1A gene DOID:0060019 coronin-1A deficiency ISO RGD:732928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION | ClinVar Annotator: match by term: Immunodeficiency 8 PMID:16199547|PMID:17576681|PMID:18836449|PMID:19097825|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:23522482|PMID:24033266|PMID:24372385|PMID:24811917|PMID:25073507|PMID:25666293|PMID:25741868|PMID:27577878|PMID:28492532|PMID:30899265|PMID:9536098 11858687 CORO1A coronin 1A gene DOID:0060041 autism spectrum disorder ISO RGD:732928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 11858687 CORO1A coronin 1A gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:732928 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 11858687 CORO1A coronin 1A gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:732928 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 11858687 CORO1A coronin 1A gene DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive ISO RGD:732929 D RGD:9068941 20220825 MouseDO OMIM:608971 11858687 CORO1A coronin 1A gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:732928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11858687 CORO1A coronin 1A gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:732928 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 11858687 CORO1A coronin 1A gene DOID:12849 autistic disorder ISO RGD:732928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11858687 CORO1A coronin 1A gene DOID:13884 sick sinus syndrome ISO RGD:732928 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sinus node disease 11858687 CORO1A coronin 1A gene DOID:1882 atrial heart septal defect ISO RGD:732928 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 11858687 CORO1A coronin 1A gene DOID:305 carcinoma ISO RGD:732928 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 11858687 CORO1A coronin 1A gene DOID:399 tuberculosis ISO RGD:732928 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16040207 11858687 CORO1A coronin 1A gene DOID:5419 schizophrenia ISO RGD:732928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11858687 CORO1A coronin 1A gene DOID:627 severe combined immunodeficiency ISO RGD:732928 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 11858687 CORO1A coronin 1A gene DOID:630 genetic disease ISO RGD:732928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858687 CORO1A coronin 1A gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:732928 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 11858687 CORO1A coronin 1A gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:732928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11858687 CORO1A coronin 1A gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:732928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 11858708 LRP5 LDL receptor related protein 5 gene DOID:0050535 exudative vitreoretinopathy ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial exudative vitreoretinopathy PMID:11719191|PMID:15024691|PMID:16199547|PMID:16252235|PMID:25711638|PMID:28041643|PMID:28492532|PMID:29181528|PMID:31299183|PMID:8832721 11858708 LRP5 LDL receptor related protein 5 gene DOID:0050770 polycystic liver disease ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:25741868|PMID:28492532|PMID:30452590 11858708 LRP5 LDL receptor related protein 5 gene DOID:0060849 osteoporosis-pseudoglioma syndrome ISO RGD:1319617 D RGD:7240710 20180130 OMIM 11858708 LRP5 LDL receptor related protein 5 gene DOID:0060849 osteoporosis-pseudoglioma syndrome ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteoporosis with pseudoglioma | ClinVar Annotator: match by term: Pseudoglioma with bone fragility PMID:11719191|PMID:11793484|PMID:12579474|PMID:14727154|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15346351|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:15981244|PMID:16234968|PMID:16252235|PMID:16679074|PMID:17086708|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17241106|PMID:17306638|PMID:17307038|PMID:17505772|PMID:17766366|PMID:18058054|PMID:18349089|PMID:18493104|PMID:18588671|PMID:18932002|PMID:19023643|PMID:20034086|PMID:21528003|PMID:25741868|PMID:26467025|PMID:28420620|PMID:28492532|PMID:29131652|PMID:30452590|PMID:30894705|PMID:35106624 11858708 LRP5 LDL receptor related protein 5 gene DOID:0080037 Worth syndrome ISO RGD:1319617 D RGD:7240710 20180130 OMIM 11858708 LRP5 LDL receptor related protein 5 gene DOID:0080037 Worth syndrome ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteosclerosis autosomal dominant Worth type | ClinVar Annotator: match by term: Worth disease PMID:1002767|PMID:10434540|PMID:11701785|PMID:11719191|PMID:11883972|PMID:12015390|PMID:12579474|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:16679074|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:18058054|PMID:18349089|PMID:18521528|PMID:18588671|PMID:23318847|PMID:25741868|PMID:26348019|PMID:26467025|PMID:28492532|PMID:30452590 11858708 LRP5 LDL receptor related protein 5 gene DOID:0080322 polycystic kidney disease ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease, adult type PMID:25711638|PMID:25741868|PMID:25920554|PMID:28492532|PMID:30283887 11858708 LRP5 LDL receptor related protein 5 gene DOID:0110937 autosomal dominant osteopetrosis 1 ISO RGD:1319617 D RGD:7240710 20180130 OMIM 11858708 LRP5 LDL receptor related protein 5 gene DOID:0110937 autosomal dominant osteopetrosis 1 ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1 | ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I PMID:1002767|PMID:10434540|PMID:11701785|PMID:11719191|PMID:11741193|PMID:12015390|PMID:12054167|PMID:12579474|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:16679074|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:18058054|PMID:18349089|PMID:18521528|PMID:18588671|PMID:23318847|PMID:25741868|PMID:26348019|PMID:26467025|PMID:28492532|PMID:30452590 11858708 LRP5 LDL receptor related protein 5 gene DOID:0111411 exudative vitreoretinopathy 4 ISO RGD:1319617 D RGD:7240710 20180130 OMIM 11858708 LRP5 LDL receptor related protein 5 gene DOID:0111411 exudative vitreoretinopathy 4 ISO RGD:1319617 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 4 | ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, autosomal dominant | ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, autosomal recessive | ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, digenic PMID:11719191|PMID:12579474|PMID:14507768|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15346351|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:15981244|PMID:16199547|PMID:16252235|PMID:16679074|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:17955262|PMID:18058054|PMID:18349089|PMID:18588671|PMID:20034086|PMID:20340138|PMID:25384351|PMID:25711638|PMID:25741868|PMID:26244290|PMID:26467025|PMID:28041643|PMID:28492532|PMID:29181528|PMID:30452590|PMID:31077665|PMID:31237656|PMID:34639175|PMID:8832721|PMID:9056564|PMID:9831343 11858708 LRP5 LDL receptor related protein 5 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 | ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant PMID:11719191|PMID:12579474|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:16199547|PMID:16252235|PMID:16679074|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:18058054|PMID:18349089|PMID:18588671|PMID:21528003|PMID:25711638|PMID:25741868|PMID:26467025|PMID:28420620|PMID:28492532|PMID:30452590|PMID:33302760|PMID:35106624 11858708 LRP5 LDL receptor related protein 5 gene DOID:1059 intellectual disability ISO RGD:1319617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11858708 LRP5 LDL receptor related protein 5 gene DOID:10629 microphthalmia ISO RGD:1319617 D RGD:9068941 20200609 RGD DNA:mutation:splice junction: PMID:28111184|REF_RGD_ID:12793059 11858708 LRP5 LDL receptor related protein 5 gene DOID:10907 microcephaly ISO RGD:1319617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11858708 LRP5 LDL receptor related protein 5 gene DOID:11476 osteoporosis ISO RGD:1319617 D RGD:7240710 20180130 OMIM 11858708 LRP5 LDL receptor related protein 5 gene DOID:11476 osteoporosis ISO RGD:1319617 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 1 | ClinVar Annotator: match by term: LRP5-related primary osteoporosis | ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis PMID:11719191|PMID:11793484|PMID:12579474|PMID:14727154|PMID:15024691|PMID:15077203|PMID:15141052|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:16234968|PMID:16252235|PMID:16679074|PMID:17052975|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:17395706|PMID:17505772|PMID:17576681|PMID:18058054|PMID:18349089|PMID:18588671|PMID:18602879|PMID:19324841|PMID:21528003|PMID:22456437|PMID:23441120|PMID:24423337|PMID:24706814|PMID:24715757|PMID:25073507|PMID:25711638|PMID:25741868|PMID:25920554|PMID:26348019|PMID:26467025|PMID:28192794|PMID:28378289|PMID:28420620|PMID:28492532|PMID:28494495|PMID:29168297|PMID:29181528|PMID:30283887|PMID:30452590|PMID:31039433|PMID:33118644|PMID:33939331|PMID:34639175|PMID:35106624|PMID:9536098 11858708 LRP5 LDL receptor related protein 5 gene DOID:11476 osteoporosis treatment ISO RGD:1309329 D RGD:9068941 20200609 RGD PMID:21977807|PMID:22704852|REF_RGD_ID:12793063|REF_RGD_ID:7240519 11858708 LRP5 LDL receptor related protein 5 gene DOID:12347 osteogenesis imperfecta ISO RGD:1319617 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:11719191|PMID:11793484|PMID:12579474|PMID:14727154|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15346351|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:15981244|PMID:16234968|PMID:16252235|PMID:16679074|PMID:17086708|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17241106|PMID:17306638|PMID:17307038|PMID:17395706|PMID:17505772|PMID:17766366|PMID:18058054|PMID:18349089|PMID:18493104|PMID:18588671|PMID:18721193|PMID:18932002|PMID:19023643|PMID:24706814|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30452590|PMID:30894705 11858708 LRP5 LDL receptor related protein 5 gene DOID:12347 osteogenesis imperfecta ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:11719191|PMID:11793484|PMID:12579474|PMID:14727154|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15346351|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:15981244|PMID:16234968|PMID:16252235|PMID:16679074|PMID:17086708|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17241106|PMID:17306638|PMID:17307038|PMID:17395706|PMID:17505772|PMID:17766366|PMID:18058054|PMID:18349089|PMID:18493104|PMID:18588671|PMID:18721193|PMID:18932002|PMID:19023643|PMID:19324841|PMID:24706814|PMID:25711638|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30452590|PMID:30894705|PMID:33118644 11858708 LRP5 LDL receptor related protein 5 gene DOID:12347 osteogenesis imperfecta treatment ISO RGD:1319618 D RGD:9068941 20200609 RGD PMID:24677211|REF_RGD_ID:12792279 11858708 LRP5 LDL receptor related protein 5 gene DOID:12559 idiopathic juvenile osteoporosis ISO RGD:1319617 D RGD:9068941 20200609 RGD DNA:mutations:exon:c.3446 T > A (p.L1149Q),c.3553 G > A (p.G1185R)(human) PMID:22487062|REF_RGD_ID:12793058 11858708 LRP5 LDL receptor related protein 5 gene DOID:13533 osteopetrosis ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: High bone mass PMID:11741193|PMID:12015390|PMID:25741868|PMID:28492532 11858708 LRP5 LDL receptor related protein 5 gene DOID:14791 Leber congenital amaurosis ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:28492532 11858708 LRP5 LDL receptor related protein 5 gene DOID:4079 heart valve disease ISO RGD:1319617 D RGD:9068941 20200609 RGD protein:increased expression:heart valve PMID:16631011|REF_RGD_ID:12793057 11858708 LRP5 LDL receptor related protein 5 gene DOID:4254 osteosclerosis ISO RGD:1319617 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:11719191|PMID:11741193|PMID:11793484|PMID:12015390|PMID:12579474|PMID:14727154|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:16679074|PMID:17086708|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17241106|PMID:17306638|PMID:17307038|PMID:17395706|PMID:17505772|PMID:17766366|PMID:18058054|PMID:18349089|PMID:18493104|PMID:18588671|PMID:18932002|PMID:19023643|PMID:25741868|PMID:26467025|PMID:28492532 11858708 LRP5 LDL receptor related protein 5 gene DOID:4997 Camurati-Engelmann disease ISO RGD:1319617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diaphyseal dysplasia PMID:25741868 11858708 LRP5 LDL receptor related protein 5 gene DOID:630 genetic disease ISO RGD:1319617 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11719191|PMID:15024691|PMID:15346351|PMID:16199547|PMID:16252235|PMID:21407258|PMID:25711638|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29181528|PMID:8832721|PMID:9831343 11858708 LRP5 LDL receptor related protein 5 gene DOID:8501 fundus dystrophy ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11719191|PMID:16252235|PMID:25711638|PMID:25741868|PMID:27208204|PMID:28492532|PMID:30452590 11858708 LRP5 LDL receptor related protein 5 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1319617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868|PMID:28492532 11858708 LRP5 LDL receptor related protein 5 gene DOID:898 autosomal dominant polycystic kidney disease susceptibility ISO RGD:1309329 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:multiple mutations (human) PMID:25920554|REF_RGD_ID:11553546 11858708 LRP5 LDL receptor related protein 5 gene DOID:898 autosomal dominant polycystic kidney disease susceptibility ISO RGD:1319617 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:multiple mutations (human) PMID:25920554|REF_RGD_ID:11553546 11858708 LRP5 LDL receptor related protein 5 gene DOID:898 autosomal dominant polycystic kidney disease susceptibility ISO RGD:1319618 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:multiple mutations (human) PMID:25920554|REF_RGD_ID:11553546 11858708 LRP5 LDL receptor related protein 5 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1309329 D RGD:9068941 20200609 RGD PMID:24090150|REF_RGD_ID:12798566 11858708 LRP5 LDL receptor related protein 5 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1319617 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Polycystic liver disease 1 PMID:24706814|PMID:25073507|PMID:25741868|PMID:28492532|PMID:30452590 11858708 LRP5 LDL receptor related protein 5 gene DOID:9001771 Polycystic Liver Disease 1 susceptibility ISO RGD:1309329 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R118W (3562C>T) (human) PMID:24706814|REF_RGD_ID:11063140 11858708 LRP5 LDL receptor related protein 5 gene DOID:9001771 Polycystic Liver Disease 1 susceptibility ISO RGD:1319617 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R118W (3562C>T) (human) PMID:24706814|REF_RGD_ID:11063140 11858708 LRP5 LDL receptor related protein 5 gene DOID:9001771 Polycystic Liver Disease 1 susceptibility ISO RGD:1319618 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R118W (3562C>T) (human) PMID:24706814|REF_RGD_ID:11063140 11858708 LRP5 LDL receptor related protein 5 gene DOID:9002278 Metabolic Bone Diseases treatment ISO RGD:1319618 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.A214V,p.G171V(mouse) PMID:26554834|REF_RGD_ID:11343819 11858708 LRP5 LDL receptor related protein 5 gene DOID:9002589 Bone Fractures ISO RGD:1319617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22504420 11858708 LRP5 LDL receptor related protein 5 gene DOID:9003049 Femur Head Necrosis treatment ISO RGD:1309329 D RGD:9068941 20200609 RGD PMID:24510055|REF_RGD_ID:12793062 11858708 LRP5 LDL receptor related protein 5 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1319617 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11858708 LRP5 LDL receptor related protein 5 gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:1319617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Postmenopausal osteoporosis PMID:25741868|PMID:28492532 11858708 LRP5 LDL receptor related protein 5 gene DOID:9005882 Spine Osteoarthritis susceptibility ISO RGD:1319617 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.Q89R(human) PMID:17202888|REF_RGD_ID:12792278 11858708 LRP5 LDL receptor related protein 5 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1319617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11858708 LRP5 LDL receptor related protein 5 gene DOID:9009127 Polycystic Liver Disease 4 with or without Kidney Cysts ISO RGD:1319617 D RGD:7240710 20190315 OMIM 11858708 LRP5 LDL receptor related protein 5 gene DOID:9009127 Polycystic Liver Disease 4 with or without Kidney Cysts ISO RGD:1319617 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: POLYCYSTIC LIVER DISEASE 4 WITH KIDNEY CYSTS | ClinVar Annotator: match by term: Polycystic liver disease 4 with or without kidney cysts PMID:11719191|PMID:12579474|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:16679074|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:18058054|PMID:18349089|PMID:18588671|PMID:24706814|PMID:25073507|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30452590 11858708 LRP5 LDL receptor related protein 5 gene DOID:971 tendinitis ISO RGD:1309329 D RGD:9068941 20200609 RGD protein:increased expression:patellar tendon: PMID:23776285|REF_RGD_ID:12793064 11858708 LRP5 LDL receptor related protein 5 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:1319617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18263894 11858708 LRP5 LDL receptor related protein 5 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:1319617 D RGD:9068941 20200609 RGD DNA:mutations: :p.R570Q, p.R752G, p.E1367K (human) PMID:15346351|REF_RGD_ID:1599835 11858729 LINS1 lines homolog 1 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1602699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 11858729 LINS1 lines homolog 1 gene DOID:0081193 autosomal recessive intellectual developmental disorder 27 ISO RGD:1602699 D RGD:7240710 20180130 OMIM 11858729 LINS1 lines homolog 1 gene DOID:0081193 autosomal recessive intellectual developmental disorder 27 ISO RGD:1602699 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 27 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 27 PMID:21937992|PMID:23773660|PMID:25741868|PMID:28492532|PMID:30090841|PMID:32499722|PMID:32802957 11858729 LINS1 lines homolog 1 gene DOID:1059 intellectual disability ISO RGD:1602699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 11858729 LINS1 lines homolog 1 gene DOID:10907 microcephaly ISO RGD:1602699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11858729 LINS1 lines homolog 1 gene DOID:630 genetic disease ISO RGD:1602699 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11858729 LINS1 lines homolog 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11858748 SIK2 salt inducible kinase 2 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1346987 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 11858748 SIK2 salt inducible kinase 2 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1346987 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 11858748 SIK2 salt inducible kinase 2 gene DOID:1059 intellectual disability ISO RGD:1346987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11858748 SIK2 salt inducible kinase 2 gene DOID:12704 ataxia telangiectasia ISO RGD:1346987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11858748 SIK2 salt inducible kinase 2 gene DOID:630 genetic disease ISO RGD:1346987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858748 SIK2 salt inducible kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1346987 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34491613 11858748 SIK2 salt inducible kinase 2 gene DOID:9000918 Disease Progression ISO RGD:1346987 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34491613 11858748 SIK2 salt inducible kinase 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1346987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11858748 SIK2 salt inducible kinase 2 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1346987 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 11858767 ADAM8 ADAM metallopeptidase domain 8 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1343050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11858767 ADAM8 ADAM metallopeptidase domain 8 gene DOID:2841 asthma ISO RGD:1320020 D RGD:9068941 20200609 RGD PMID:20194813|REF_RGD_ID:5128872 11858767 ADAM8 ADAM metallopeptidase domain 8 gene DOID:2841 asthma ISO RGD:1320020 D RGD:9068941 20200609 RGD mRNA:increased expression:respiratory tract PMID:19373511|REF_RGD_ID:5128878 11858767 ADAM8 ADAM metallopeptidase domain 8 gene DOID:2841 asthma severity ISO RGD:1343050 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchus PMID:17339047|REF_RGD_ID:4145380 11858767 ADAM8 ADAM metallopeptidase domain 8 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1343050 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:17979891|REF_RGD_ID:2325243 11858767 ADAM8 ADAM metallopeptidase domain 8 gene DOID:630 genetic disease ISO RGD:1343050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858767 ADAM8 ADAM metallopeptidase domain 8 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1320020 D RGD:9068941 20200609 RGD PMID:9670863|REF_RGD_ID:2325244 11858767 ADAM8 ADAM metallopeptidase domain 8 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:1320020 D RGD:9068941 20200609 RGD PMID:9670863|REF_RGD_ID:2325244 11858767 ADAM8 ADAM metallopeptidase domain 8 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1343050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24646716 11858767 ADAM8 ADAM metallopeptidase domain 8 gene DOID:9498 pulmonary eosinophilia ISO RGD:1343050 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19625177|REF_RGD_ID:5128874 11858799 LARP6 La ribonucleoprotein 6, translational regulator gene DOID:2717 Bloom syndrome ISO RGD:1605069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11858799 LARP6 La ribonucleoprotein 6, translational regulator gene DOID:630 genetic disease ISO RGD:1605069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858799 LARP6 La ribonucleoprotein 6, translational regulator gene DOID:9256 colorectal cancer ISO RGD:1605069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11858805 APOC2 apolipoprotein C2 gene DOID:0111418 familial apolipoprotein C-II deficiency ISO RGD:1352001 D RGD:7240710 20191106 OMIM 11858805 APOC2 apolipoprotein C2 gene DOID:0111418 familial apolipoprotein C-II deficiency ISO RGD:1352001 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial apolipoprotein C-II deficiency PMID:12783430|PMID:1349286|PMID:1628605|PMID:1782747|PMID:1971748|PMID:213719|PMID:22135386|PMID:2477392|PMID:24788417|PMID:24886863|PMID:25741868|PMID:25910212|PMID:2592354|PMID:28492532|PMID:29100061|PMID:30197986|PMID:30686043|PMID:30793526|PMID:3192518|PMID:3225819|PMID:3263393|PMID:32861330|PMID:33111339|PMID:33116287|PMID:3467353|PMID:3680515|PMID:3944267|PMID:3944271|PMID:7815420|PMID:7923858|PMID:8323539|PMID:8490626 11858805 APOC2 apolipoprotein C2 gene DOID:1168 familial hyperlipidemia susceptibility ISO RGD:1352001 D RGD:9068941 20200609 RGD PMID:1782747|REF_RGD_ID:1599175 11858805 APOC2 apolipoprotein C2 gene DOID:1184 nephrotic syndrome ISO RGD:1352001 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:8366982|REF_RGD_ID:2313970 11858805 APOC2 apolipoprotein C2 gene DOID:1390 hypobetalipoproteinemia ISO RGD:1352001 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:2242096|REF_RGD_ID:1601212 11858805 APOC2 apolipoprotein C2 gene DOID:14118 familial lipoprotein lipase deficiency ISO RGD:1352001 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: C-II ANAPOLIPOPROTEINEMIA PMID:12783430|PMID:1349286|PMID:1628605|PMID:1782747|PMID:1971748|PMID:213719|PMID:22135386|PMID:2477392|PMID:24788417|PMID:24886863|PMID:25741868|PMID:25910212|PMID:2592354|PMID:28492532|PMID:29100061|PMID:30197986|PMID:30686043|PMID:30793526|PMID:3225819|PMID:3263393|PMID:32861330|PMID:33111339|PMID:33116287|PMID:3467353|PMID:3680515|PMID:3944267|PMID:3944271|PMID:7815420|PMID:7923858|PMID:8323539|PMID:8490626 11858805 APOC2 apolipoprotein C2 gene DOID:2377 multiple sclerosis ISO RGD:1352001 D RGD:9068941 20200609 RGD PMID:10335523|REF_RGD_ID:1358408 11858805 APOC2 apolipoprotein C2 gene DOID:3146 lipid metabolism disorder no_association ISO RGD:1352001 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.K19T (human) PMID:7923858|REF_RGD_ID:1601206 11858805 APOC2 apolipoprotein C2 gene DOID:630 genetic disease ISO RGD:1352001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858805 APOC2 apolipoprotein C2 gene DOID:684 hepatocellular carcinoma ISO RGD:1352001 D RGD:9068941 20220908 RGD associated with hepatitis B; mRNA:increased expression:liver PMID:31211449|REF_RGD_ID:153350082 11858805 APOC2 apolipoprotein C2 gene DOID:783 end stage renal disease ISO RGD:1352001 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:8139482|REF_RGD_ID:2313968 11858805 APOC2 apolipoprotein C2 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1352001 D RGD:9068941 20200609 RGD PMID:7590197|REF_RGD_ID:1601205 11858805 APOC2 apolipoprotein C2 gene DOID:9000808 Hypercholesterolemia susceptibility ISO RGD:1352001 D RGD:9068941 20200609 RGD associated with Hypertriglyceridemia;DNA:missense mutation: :p.K38Q (human) PMID:8490626|REF_RGD_ID:1601207 11858805 APOC2 apolipoprotein C2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1352001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 11858805 APOC2 apolipoprotein C2 gene DOID:9004590 Acute Liver Failure ISO RGD:1352001 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 11858805 APOC2 apolipoprotein C2 gene DOID:9005236 Drug Eruptions ISO RGD:1352001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21055120 11858805 APOC2 apolipoprotein C2 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1352001 D RGD:9068941 20200609 RGD PMID:3944267|REF_RGD_ID:1601214 11858805 APOC2 apolipoprotein C2 gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:1352001 D RGD:9068941 20200609 RGD PMID:7590197|REF_RGD_ID:1601205 11858805 APOC2 apolipoprotein C2 gene DOID:9007571 Hyperlipoproteinemias ISO RGD:1352001 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:1468157|REF_RGD_ID:1601208 11858805 APOC2 apolipoprotein C2 gene DOID:9007571 Hyperlipoproteinemias susceptibility ISO RGD:1352001 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.L72P (human) PMID:16153625|REF_RGD_ID:1601204 11858805 APOC2 apolipoprotein C2 gene DOID:9351 diabetes mellitus ISO RGD:1352001 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:2352345|REF_RGD_ID:2313973 11858805 APOC2 apolipoprotein C2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352001 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:12733353|PMID:3757210|REF_RGD_ID:2313953|REF_RGD_ID:2313966 11858805 APOC2 apolipoprotein C2 gene DOID:9970 obesity ISO RGD:1352001 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9002300|REF_RGD_ID:1601191 11858813 ANKMY1 ankyrin repeat and MYND domain containing 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1345862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11858813 ANKMY1 ankyrin repeat and MYND domain containing 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1345862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11858813 ANKMY1 ankyrin repeat and MYND domain containing 1 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1345862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 11858813 ANKMY1 ankyrin repeat and MYND domain containing 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1345862 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11858813 ANKMY1 ankyrin repeat and MYND domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1345862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11858813 ANKMY1 ankyrin repeat and MYND domain containing 1 gene DOID:630 genetic disease ISO RGD:1345862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858813 ANKMY1 ankyrin repeat and MYND domain containing 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1345862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11858928 AKAP8L A-kinase anchoring protein 8 like gene DOID:630 genetic disease ISO RGD:1347470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858951 KCNB2 potassium voltage-gated channel subfamily B member 2 gene DOID:630 genetic disease ISO RGD:732631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858951 KCNB2 potassium voltage-gated channel subfamily B member 2 gene DOID:9256 colorectal cancer ISO RGD:732631 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Colorectal cancer 11858958 CERS4 ceramide synthase 4 gene DOID:0080490 mucolipidosis type IV ISO RGD:1319578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 11858958 CERS4 ceramide synthase 4 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1319578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 11858958 CERS4 ceramide synthase 4 gene DOID:12849 autistic disorder ISO RGD:1319578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11858958 CERS4 ceramide synthase 4 gene DOID:630 genetic disease ISO RGD:1319578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858984 SLC27A3 solute carrier family 27 member 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1321607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11858984 SLC27A3 solute carrier family 27 member 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1321607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11858984 SLC27A3 solute carrier family 27 member 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1321607 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11858984 SLC27A3 solute carrier family 27 member 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1321607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11858984 SLC27A3 solute carrier family 27 member 3 gene DOID:5812 MHC class II deficiency ISO RGD:1321607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11858984 SLC27A3 solute carrier family 27 member 3 gene DOID:630 genetic disease ISO RGD:1321607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858984 SLC27A3 solute carrier family 27 member 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11858998 FOXA3 forkhead box A3 gene DOID:630 genetic disease ISO RGD:1605725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11858998 FOXA3 forkhead box A3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22919386 11858998 FOXA3 forkhead box A3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2809 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11018767|REF_RGD_ID:2315085 11859004 CAPZA1 capping actin protein of muscle Z-line subunit alpha 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1314786 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 11859004 CAPZA1 capping actin protein of muscle Z-line subunit alpha 1 gene DOID:13938 amenorrhea ISO RGD:1314786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11859004 CAPZA1 capping actin protein of muscle Z-line subunit alpha 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1314786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 11859004 CAPZA1 capping actin protein of muscle Z-line subunit alpha 1 gene DOID:630 genetic disease ISO RGD:1314786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859043 NSRP1 nuclear speckle splicing regulatory protein 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1604770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 11859043 NSRP1 nuclear speckle splicing regulatory protein 1 gene DOID:10907 microcephaly ISO RGD:1604770 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:34385670 11859043 NSRP1 nuclear speckle splicing regulatory protein 1 gene DOID:1826 epilepsy ISO RGD:1604770 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:34385670 11859043 NSRP1 nuclear speckle splicing regulatory protein 1 gene DOID:630 genetic disease ISO RGD:1604770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859043 NSRP1 nuclear speckle splicing regulatory protein 1 gene DOID:9007428 Muscle Spasticity ISO RGD:1604770 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spasticity PMID:34385670 11859080 SPMIP8 sperm microtubule inner protein 8 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602955 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11859080 SPMIP8 sperm microtubule inner protein 8 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602955 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11859080 SPMIP8 sperm microtubule inner protein 8 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11859080 SPMIP8 sperm microtubule inner protein 8 gene DOID:630 genetic disease ISO RGD:1602955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859094 RIC8B RIC8 guanine nucleotide exchange factor B gene DOID:630 genetic disease ISO RGD:1605657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859131 DNAJC22 DnaJ heat shock protein family (Hsp40) member C22 gene DOID:630 genetic disease ISO RGD:1602458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859142 KCNJ3 potassium inwardly rectifying channel subfamily J member 3 gene DOID:0060041 autism spectrum disorder ISO RGD:733789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11859142 KCNJ3 potassium inwardly rectifying channel subfamily J member 3 gene DOID:630 genetic disease ISO RGD:733789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859149 DYNLT4 dynein light chain Tctex-type 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606104 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11859149 DYNLT4 dynein light chain Tctex-type 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11859149 DYNLT4 dynein light chain Tctex-type 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606104 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11859149 DYNLT4 dynein light chain Tctex-type 4 gene DOID:630 genetic disease ISO RGD:1606104 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859149 DYNLT4 dynein light chain Tctex-type 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:30057029 11859159 SSX2IP SSX family member 2 interacting protein gene DOID:630 genetic disease ISO RGD:736522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859187 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:0060019 coronin-1A deficiency ISO RGD:736670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11859187 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:736670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 11859187 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:736670 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 11859187 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:736670 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 11859187 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:736670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11859187 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:736670 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 11859187 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:12849 autistic disorder ISO RGD:736670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11859187 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:1882 atrial heart septal defect ISO RGD:736670 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 11859187 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:5419 schizophrenia ISO RGD:736670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11859187 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:630 genetic disease ISO RGD:736670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859187 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11859187 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:736670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11859187 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:736670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 11859216 IDI1 isopentenyl-diphosphate delta isomerase 1 gene DOID:630 genetic disease ISO RGD:735459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859225 SMCO3 single-pass membrane protein with coiled-coil domains 3 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1605173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 11859225 SMCO3 single-pass membrane protein with coiled-coil domains 3 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1605173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 11859225 SMCO3 single-pass membrane protein with coiled-coil domains 3 gene DOID:630 genetic disease ISO RGD:1605173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859233 FCHSD1 FCH and double SH3 domains 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1317900 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11859233 FCHSD1 FCH and double SH3 domains 1 gene DOID:630 genetic disease ISO RGD:1317900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859233 FCHSD1 FCH and double SH3 domains 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11859233 FCHSD1 FCH and double SH3 domains 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317900 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11859267 RNF7 ring finger protein 7 gene DOID:630 genetic disease ISO RGD:1322298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859279 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:736625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X | ClinVar Annotator: match by term: Charcot-Marie-Tooth, X-linked PMID:17701900|PMID:20021999|PMID:20301731|PMID:20301734|PMID:24033266|PMID:24528855|PMID:24961627|PMID:25182139|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28967191|PMID:29986705|PMID:30177296|PMID:31906484|PMID:32528171|PMID:32781272|PMID:33532242|PMID:8702702|PMID:8968763 11859279 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0050647 Arts syndrome ISO RGD:736625 D RGD:7240710 20180130 OMIM 11859279 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0050647 Arts syndrome ISO RGD:736625 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Arts syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE | ClinVar Annotator: match by term: X-linked fatal ataxia with deafness and loss of vision PMID:1664177|PMID:17701896|PMID:17701900|PMID:19161981|PMID:20301731|PMID:22246954|PMID:24033266|PMID:24528855|PMID:25741868|PMID:26089585|PMID:28492532|PMID:28967191|PMID:31906484|PMID:32781272|PMID:6243137|PMID:7593598|PMID:8253776|PMID:8498830 11859279 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:736625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis PMID:28492532 11859279 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11859279 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0110210 Charcot-Marie-Tooth disease X-linked recessive 5 ISO RGD:736625 D RGD:7240710 20180130 OMIM 11859279 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0110210 Charcot-Marie-Tooth disease X-linked recessive 5 ISO RGD:736625 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 5 | ClinVar Annotator: match by term: Familial opticoacoustic nerve degeneration and polyneuropathy | ClinVar Annotator: match by term: Optic atrophy, neural deafness, and distal neurogenic amyotrophy PMID:17701900|PMID:20301731|PMID:24033266|PMID:24285972|PMID:25182139|PMID:25491489|PMID:25741868|PMID:28492532|PMID:32781272 11859279 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0111260 phosphoribosylpyrophosphate synthetase superactivity ISO RGD:736625 D RGD:7240710 20180130 OMIM 11859279 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0111260 phosphoribosylpyrophosphate synthetase superactivity ISO RGD:736625 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Phosphoribosylpyrophosphate synthetase superactivity PMID:1664177|PMID:171280|PMID:17701900|PMID:19161981|PMID:20301731|PMID:24033266|PMID:25741868|PMID:26089585|PMID:28492532|PMID:28967191|PMID:6243137|PMID:7593598|PMID:8253776 11859279 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0111739 X-linked deafness 1 ISO RGD:736625 D RGD:7240710 20180130 OMIM 11859279 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0111739 X-linked deafness 1 ISO RGD:736625 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: DEAFNESS, X-LINKED 2, SENSORINEURAL CONGENITAL | ClinVar Annotator: match by term: Deafness, X-linked 1 PMID:10503584|PMID:15240907|PMID:17701900|PMID:20021999|PMID:20301731|PMID:24033266|PMID:24528855|PMID:25182139|PMID:25741868|PMID:28492532|PMID:8968763 11859279 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:736625 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.S16P (human) PMID:25491489|REF_RGD_ID:11056008 11859279 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:12849 autistic disorder ISO RGD:736625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11859279 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:13189 gout ISO RGD:736625 D RGD:9068941 20200609 RGD N113S, D182H PMID:8253776|REF_RGD_ID:1599725 11859279 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:630 genetic disease ISO RGD:736625 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1664177|PMID:19161981|PMID:24033266|PMID:25741868|PMID:26089585|PMID:26467025|PMID:28492532|PMID:6243137|PMID:8253776 11859279 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:8501 fundus dystrophy ISO RGD:736625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24961627|PMID:25741868|PMID:28492532|PMID:28967191|PMID:32781272 11859279 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:9003814 Neurologic Manifestations ISO RGD:736625 D RGD:9068941 20200609 RGD associated with Gout; DNA:missense mutations:cds:multiple (human) PMID:7593598|REF_RGD_ID:5134990 11859279 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:9004538 Hearing Loss ISO RGD:736625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked nonsyndromic hearing loss 11859279 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:9004657 Weight Gain ISO RGD:736625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11859279 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:736625 D RGD:9068941 20200609 RGD N113S, D182H PMID:8253776|REF_RGD_ID:1599725 11859291 CD300C CD300c molecule gene DOID:630 genetic disease ISO RGD:1349208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859299 MTIF3 mitochondrial translational initiation factor 3 gene DOID:630 genetic disease ISO RGD:1604201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859348 PCGF5 polycomb group ring finger 5 gene DOID:0080600 COVID-19 ISO RGD:1351153 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11859348 PCGF5 polycomb group ring finger 5 gene DOID:630 genetic disease ISO RGD:1351153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859365 LOC100983451 surfeit locus protein 1 gene DOID:0050753 cerebellar ataxia ISO RGD:732036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:17576681|PMID:22488715|PMID:23829769|PMID:25741868|PMID:28492532|PMID:32445240|PMID:9536098 11859365 LOC100983451 surfeit locus protein 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:732036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 11859365 LOC100983451 surfeit locus protein 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:732036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11859365 LOC100983451 surfeit locus protein 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:732036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11859365 LOC100983451 surfeit locus protein 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:732036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11859365 LOC100983451 surfeit locus protein 1 gene DOID:0081097 Rafiq syndrome ISO RGD:732036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11859365 LOC100983451 surfeit locus protein 1 gene DOID:0110187 Charcot-Marie-Tooth disease type 4K ISO RGD:732036 D RGD:7240710 20180130 OMIM 11859365 LOC100983451 surfeit locus protein 1 gene DOID:0110187 Charcot-Marie-Tooth disease type 4K ISO RGD:732036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4K PMID:12515039|PMID:16542579|PMID:19780766|PMID:23829769|PMID:24027061|PMID:25741868|PMID:27896082|PMID:28492532 11859365 LOC100983451 surfeit locus protein 1 gene DOID:0111180 French Canadian Leigh disease ISO RGD:732036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16326995 11859365 LOC100983451 surfeit locus protein 1 gene DOID:1059 intellectual disability ISO RGD:732036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11859365 LOC100983451 surfeit locus protein 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:732036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11859365 LOC100983451 surfeit locus protein 1 gene DOID:3652 Leigh disease ISO RGD:732036 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:10443880|PMID:10556302|PMID:10558868|PMID:10636738|PMID:10746561|PMID:11288709|PMID:11317352|PMID:11423010|PMID:12026244|PMID:14557577|PMID:15214016|PMID:16199547|PMID:16225813|PMID:16542579|PMID:16773507|PMID:17576681|PMID:17908801|PMID:18583168|PMID:19780766|PMID:20624914|PMID:20843780|PMID:21937992|PMID:22488715|PMID:23806086|PMID:23829769|PMID:24027061|PMID:24088041|PMID:24262866|PMID:24462369|PMID:25111564|PMID:25326637|PMID:25741868|PMID:26257172|PMID:26944241|PMID:27475922|PMID:27756633|PMID:27826120|PMID:28429146|PMID:28492532|PMID:28639102|PMID:29933018|PMID:30872186|PMID:31589614|PMID:31967322|PMID:32380162|PMID:32445240|PMID:9536098|PMID:9837813|PMID:9843204 11859365 LOC100983451 surfeit locus protein 1 gene DOID:3652 Leigh disease ISO RGD:732036 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:10443880|PMID:10556302|PMID:10558868|PMID:10636738|PMID:10746561|PMID:11288709|PMID:11317352|PMID:11423010|PMID:12026244|PMID:12812953|PMID:14557577|PMID:15214016|PMID:16199547|PMID:16225813|PMID:16542579|PMID:16773507|PMID:17576681|PMID:17908801|PMID:18583168|PMID:19780766|PMID:20624914|PMID:20843780|PMID:21937992|PMID:22488715|PMID:23806086|PMID:23829769|PMID:24027061|PMID:24088041|PMID:24262866|PMID:24462369|PMID:25111564|PMID:25326637|PMID:25741868|PMID:26257172|PMID:26944241|PMID:27475922|PMID:27756633|PMID:27826120|PMID:28429146|PMID:28492532|PMID:28639102|PMID:29933018|PMID:30872186|PMID:31589614|PMID:31967322|PMID:32380162|PMID:32445240|PMID:34943053|PMID:9536098|PMID:9837813|PMID:9843204 11859365 LOC100983451 surfeit locus protein 1 gene DOID:3652 Leigh disease ISO RGD:732036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:10443880|PMID:10556302|PMID:10558868|PMID:10636738|PMID:10746561|PMID:11279059|PMID:11288709|PMID:11317352|PMID:11423010|PMID:12026244|PMID:12515039|PMID:12812953|PMID:14557577|PMID:15214016|PMID:16199547|PMID:16225813|PMID:16326995|PMID:16542579|PMID:16773507|PMID:17576681|PMID:17908801|PMID:18583168|PMID:19780766|PMID:20624914|PMID:20843780|PMID:21937992|PMID:22488715|PMID:23806086|PMID:23829769|PMID:24027061|PMID:24088041|PMID:24262866|PMID:24462369|PMID:25111564|PMID:25326637|PMID:25741868|PMID:26257172|PMID:26944241|PMID:27475922|PMID:27756633|PMID:27826120|PMID:27848944|PMID:27896082|PMID:28429146|PMID:28492532|PMID:28639102|PMID:2933018|PMID:29715184|PMID:29933018|PMID:30872186|PMID:31589614|PMID:31967322|PMID:32380162|PMID:32445240|PMID:33013660|PMID:33134083|PMID:34052969|PMID:34868319|PMID:34943053|PMID:9536098|PMID:9837813|PMID:9843204 11859365 LOC100983451 surfeit locus protein 1 gene DOID:3652 Leigh disease ISO RGD:732036 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:10443880|PMID:10556302|PMID:10558868|PMID:10636738|PMID:10746561|PMID:11279059|PMID:11288709|PMID:11317352|PMID:11423010|PMID:12026244|PMID:12515039|PMID:12812953|PMID:14557577|PMID:15214016|PMID:16199547|PMID:16225813|PMID:16326995|PMID:16542579|PMID:16773507|PMID:17576681|PMID:17908801|PMID:18583168|PMID:19780766|PMID:20624914|PMID:20843780|PMID:21937992|PMID:22488715|PMID:22700954|PMID:23806086|PMID:23829769|PMID:24027061|PMID:24088041|PMID:24262866|PMID:24462369|PMID:25111564|PMID:25326637|PMID:25741868|PMID:26257172|PMID:26944241|PMID:27475922|PMID:27756633|PMID:27826120|PMID:27848944|PMID:27896082|PMID:28429146|PMID:28492532|PMID:28639102|PMID:2933018|PMID:29715184|PMID:29933018|PMID:30872186|PMID:31589614|PMID:31967322|PMID:32380162|PMID:32445240|PMID:33013660|PMID:33134083|PMID:34052969|PMID:34868319|PMID:34943053|PMID:9536098|PMID:9837813|PMID:9843204 11859365 LOC100983451 surfeit locus protein 1 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:732036 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:10443880|PMID:10636738|PMID:10647889|PMID:10746561|PMID:11317352|PMID:15214016|PMID:16199547|PMID:16542579|PMID:21937992|PMID:22488715|PMID:23829769|PMID:24027061|PMID:24462369|PMID:25111564|PMID:25741868|PMID:27756633|PMID:28492532|PMID:28639102|PMID:29933018|PMID:30872186|PMID:32445240|PMID:9837813|PMID:9843204 11859365 LOC100983451 surfeit locus protein 1 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:732036 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:10443880|PMID:10636738|PMID:10647889|PMID:10746561|PMID:11317352|PMID:12515039|PMID:15214016|PMID:16199547|PMID:16542579|PMID:17576681|PMID:19780766|PMID:20624914|PMID:21937992|PMID:22488715|PMID:23829769|PMID:24027061|PMID:24462369|PMID:25111564|PMID:25741868|PMID:27756633|PMID:27896082|PMID:28492532|PMID:28639102|PMID:29933018|PMID:30872186|PMID:32445240|PMID:33134083|PMID:35693685|PMID:9536098|PMID:9837813|PMID:9843204 11859365 LOC100983451 surfeit locus protein 1 gene DOID:630 genetic disease ISO RGD:732036 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10443880|PMID:25741868|PMID:26944241|PMID:27756633|PMID:28492532|PMID:29933018|PMID:33134083|PMID:9837813|PMID:9843204 11859365 LOC100983451 surfeit locus protein 1 gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:732036 D RGD:7240710 20201111 OMIM 11859365 LOC100983451 surfeit locus protein 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16765830 11859376 ZBTB14 zinc finger and BTB domain containing 14 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1345499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11859376 ZBTB14 zinc finger and BTB domain containing 14 gene DOID:1059 intellectual disability ISO RGD:1345499 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11859376 ZBTB14 zinc finger and BTB domain containing 14 gene DOID:630 genetic disease ISO RGD:1345499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859388 CTNNA3 catenin alpha 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1320341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 11859388 CTNNA3 catenin alpha 3 gene DOID:0110084 arrhythmogenic right ventricular dysplasia 13 ISO RGD:1320341 D RGD:7240710 20180130 OMIM 11859388 CTNNA3 catenin alpha 3 gene DOID:0110084 arrhythmogenic right ventricular dysplasia 13 ISO RGD:1320341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 13 PMID:16199547|PMID:17576681|PMID:21254927|PMID:22421363|PMID:23136403|PMID:23375656|PMID:25050139|PMID:25640679|PMID:25741868|PMID:27231342|PMID:27535533|PMID:28202948|PMID:28416588|PMID:28492532|PMID:29544605|PMID:30847666|PMID:32880476|PMID:33497884|PMID:33789662|PMID:9536098 11859388 CTNNA3 catenin alpha 3 gene DOID:11054 urinary bladder cancer ISO RGD:1320341 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 11859388 CTNNA3 catenin alpha 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1320341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 11859388 CTNNA3 catenin alpha 3 gene DOID:2841 asthma ISO RGD:1320341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19187332 11859388 CTNNA3 catenin alpha 3 gene DOID:2843 long QT syndrome ISO RGD:1320341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28416588|PMID:28492532 11859388 CTNNA3 catenin alpha 3 gene DOID:303 substance-related disorder ISO RGD:1320341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11859388 CTNNA3 catenin alpha 3 gene DOID:630 genetic disease ISO RGD:1320341 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11859388 CTNNA3 catenin alpha 3 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1320341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:28492532 11859388 CTNNA3 catenin alpha 3 gene DOID:9000727 Syncope ISO RGD:1320341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syncope 11859414 ZC3H18 zinc finger CCCH-type containing 18 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1602304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 11859414 ZC3H18 zinc finger CCCH-type containing 18 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1602304 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11859414 ZC3H18 zinc finger CCCH-type containing 18 gene DOID:14780 KBG syndrome ISO RGD:1602304 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 11859414 ZC3H18 zinc finger CCCH-type containing 18 gene DOID:630 genetic disease ISO RGD:1602304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859414 ZC3H18 zinc finger CCCH-type containing 18 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1602304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 11859443 STRN4 striatin 4 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1315983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 11859443 STRN4 striatin 4 gene DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I ISO RGD:1315983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2I PMID:25741868 11859443 STRN4 striatin 4 gene DOID:0110644 long QT syndrome 1 ISO RGD:1315983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:28492532 11859443 STRN4 striatin 4 gene DOID:0111241 congenital muscular dystrophy-dystroglycanopathy type A5 ISO RGD:1315983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 PMID:25741868 11859443 STRN4 striatin 4 gene DOID:630 genetic disease ISO RGD:1315983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859466 COQ8B coenzyme Q8B gene DOID:0080391 nephrotic syndrome type 9 ISO RGD:1322771 D RGD:7240710 20180130 OMIM 11859466 COQ8B coenzyme Q8B gene DOID:0080391 nephrotic syndrome type 9 ISO RGD:1322771 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 9 PMID:17576681|PMID:24270420|PMID:25741868|PMID:28204945|PMID:28405841|PMID:28454995|PMID:28492532|PMID:29194833|PMID:29382012|PMID:30076350|PMID:31130284|PMID:31937884|PMID:32543055|PMID:32604935|PMID:32859164|PMID:32957916|PMID:33084234|PMID:33413146|PMID:33532864|PMID:34172776|PMID:9536098 11859466 COQ8B coenzyme Q8B gene DOID:1074 kidney failure ISO RGD:1322771 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Renal failure PMID:25741868 11859466 COQ8B coenzyme Q8B gene DOID:1184 nephrotic syndrome ISO RGD:1322771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:33532864 11859466 COQ8B coenzyme Q8B gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1322771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 11859466 COQ8B coenzyme Q8B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1322771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11859466 COQ8B coenzyme Q8B gene DOID:1342 congenital hypoplastic anemia ISO RGD:1322771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11859466 COQ8B coenzyme Q8B gene DOID:2340 craniosynostosis ISO RGD:1322771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11859466 COQ8B coenzyme Q8B gene DOID:557 kidney disease ISO RGD:1322771 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 11859466 COQ8B coenzyme Q8B gene DOID:630 genetic disease ISO RGD:1322771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:33084234 11859466 COQ8B coenzyme Q8B gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1322771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11859466 COQ8B coenzyme Q8B gene DOID:9269 maple syrup urine disease ISO RGD:1322771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 11859504 MORC3 MORC family CW-type zinc finger 3 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1317400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11859504 MORC3 MORC family CW-type zinc finger 3 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1317400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11859504 MORC3 MORC family CW-type zinc finger 3 gene DOID:630 genetic disease ISO RGD:1317400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859504 MORC3 MORC family CW-type zinc finger 3 gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1317400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 11859524 SPATA17 spermatogenesis associated 17 gene DOID:0050439 Usher syndrome ISO RGD:1604999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 11859524 SPATA17 spermatogenesis associated 17 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1604999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 11859524 SPATA17 spermatogenesis associated 17 gene DOID:1540 parathyroid carcinoma ISO RGD:1604999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11859524 SPATA17 spermatogenesis associated 17 gene DOID:630 genetic disease ISO RGD:1604999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859524 SPATA17 spermatogenesis associated 17 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11859539 PPP1R14B protein phosphatase 1 regulatory inhibitor subunit 14B gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1344402 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11859539 PPP1R14B protein phosphatase 1 regulatory inhibitor subunit 14B gene DOID:1059 intellectual disability ISO RGD:1344402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11859539 PPP1R14B protein phosphatase 1 regulatory inhibitor subunit 14B gene DOID:1909 melanoma ISO RGD:1344402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11859539 PPP1R14B protein phosphatase 1 regulatory inhibitor subunit 14B gene DOID:3070 high grade glioma ISO RGD:1344402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11859539 PPP1R14B protein phosphatase 1 regulatory inhibitor subunit 14B gene DOID:630 genetic disease ISO RGD:1344402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859547 REEP2 receptor accessory protein 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1346917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11859547 REEP2 receptor accessory protein 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1346917 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11859547 REEP2 receptor accessory protein 2 gene DOID:0110817 hereditary spastic paraplegia 72 ISO RGD:1346917 D RGD:7240710 20180130 OMIM 11859547 REEP2 receptor accessory protein 2 gene DOID:0110817 hereditary spastic paraplegia 72 ISO RGD:1346917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 72 | ClinVar Annotator: match by term: Spastic paraplegia 72, autosomal dominant PMID:17576681|PMID:24388663|PMID:24482476|PMID:25741868|PMID:28491902|PMID:28492532|PMID:33526816|PMID:9536098 11859547 REEP2 receptor accessory protein 2 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1346917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 11859547 REEP2 receptor accessory protein 2 gene DOID:630 genetic disease ISO RGD:1346917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11859547 REEP2 receptor accessory protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11859547 REEP2 receptor accessory protein 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346917 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11859565 LOC100990999 olfactory receptor 1A1 gene DOID:630 genetic disease ISO RGD:1351186 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859568 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:0050700 cardiomyopathy ISO RGD:1315043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18342293 11859568 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1315043 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 11859568 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:0111955 immunodeficiency 27A ISO RGD:1315043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 11859568 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:10976 membranous glomerulonephritis ISO RGD:1306565 D RGD:9068941 20200609 RGD protein:increased activity,protein:renal glomerulus: PMID:18178252|REF_RGD_ID:10412641 11859568 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:11832 visual epilepsy ISO RGD:1306565 D RGD:9068941 20200609 RGD protein:increased expression:CA1 field of hippocampus: PMID:12786973|REF_RGD_ID:2298728 11859568 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:12858 Huntington's disease ISO RGD:1315044 D RGD:9068941 20200609 RGD protein:increased expression:cortex,striatum,nucleus: PMID:19646509|REF_RGD_ID:10412311 11859568 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:12858 Huntington's disease onset ISO RGD:1315043 D RGD:9068941 20200609 RGD DNa:SNO:promoter:rs5880308(human) PMID:18327563|REF_RGD_ID:10412314 11859568 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:12858 Huntington's disease treatment ISO RGD:1315044 D RGD:9068941 20200609 RGD PMID:19646509|REF_RGD_ID:10412311 11859568 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:14330 Parkinson's disease ISO RGD:1315043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21815648 11859568 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:1561 cognitive disorder ISO RGD:1315044 D RGD:9068941 20200609 RGD associated with Chronic Cerebral Hypoperfusion; PMID:24371084|REF_RGD_ID:10412307 11859568 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:1909 melanoma ISO RGD:1315043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22197930 11859568 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:224 transient cerebral ischemia ISO RGD:1306565 D RGD:9068941 20200609 RGD protein:increased nitrosylation, activity:hippocampus: PMID:23137546|REF_RGD_ID:10412334 11859568 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1315044 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:motor neuron: PMID:15910777|REF_RGD_ID:10412312 11859568 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:3526 cerebral infarction treatment ISO RGD:1306565 D RGD:9068941 20200609 RGD PMID:23968852|REF_RGD_ID:10412642 11859568 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:5844 myocardial infarction treatment ISO RGD:1306565 D RGD:9068941 20200609 RGD PMID:22635076|REF_RGD_ID:10412335 11859568 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:6000 congestive heart failure ISO RGD:1315044 D RGD:9068941 20200609 RGD protein:increased activity:heart: PMID:17562954|REF_RGD_ID:10412331 11859568 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:630 genetic disease ISO RGD:1315043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859568 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1315043 D RGD:9068941 20200609 RGD protein:increased expression:intestine: PMID:20716917|REF_RGD_ID:10412640 11859568 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1306565 D RGD:9068941 20200609 RGD protein:increased expression:white matter and grey matter: PMID:10331432|REF_RGD_ID:10412645 11859568 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:1306565 D RGD:9068941 20200709 RGD PMID:30226536|REF_RGD_ID:35316073 11859568 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:1306565 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:lung: PMID:24126891|REF_RGD_ID:10412643 11859568 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9002056 Arterial Injury ISO RGD:1315044 D RGD:9068941 20200609 RGD PMID:14638553|REF_RGD_ID:10412321 11859568 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9002457 Experimental Arthritis ISO RGD:1315043 D RGD:9068941 20200609 RGD PMID:16331767|REF_RGD_ID:10412332 11859568 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9002514 Neointima treatment ISO RGD:1306565 D RGD:9068941 20200609 RGD PMID:14638553|REF_RGD_ID:10412321 11859568 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1306565 D RGD:9068941 20200609 RGD PMID:21843499|REF_RGD_ID:9587791 11859568 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1315043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18342293 11859568 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9006182 Carotid Artery Injuries ISO RGD:1306565 D RGD:9068941 20200609 RGD protein:increased activity:carotid artery: PMID:14638553|REF_RGD_ID:10412321 11859568 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:1306565 D RGD:9068941 20200609 RGD PMID:23952292|REF_RGD_ID:10412647 11859568 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1315043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18700144 11859568 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:1306565 D RGD:9068941 20220923 RGD PMID:31583047|REF_RGD_ID:155230831 11859568 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:1315044 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:brain: PMID:24371084|REF_RGD_ID:10412307 11859568 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9351 diabetes mellitus ISO RGD:1315043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16731828 11859568 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9007174 Ventricular Remodeling ISO RGD:1315044 D RGD:9068941 20200609 RGD protein:increased activity:heart: PMID:14665690|REF_RGD_ID:10412322 11859603 LRP3 LDL receptor related protein 3 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:733839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11859603 LRP3 LDL receptor related protein 3 gene DOID:630 genetic disease ISO RGD:733839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859603 LRP3 LDL receptor related protein 3 gene DOID:9119 acute myeloid leukemia ISO RGD:733839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:28492532 11859614 EIF2B4 eukaryotic translation initiation factor 2B subunit delta gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:733707 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter | ClinVar Annotator: match by term: Ovarioleukodystrophy PMID:11835386|PMID:12707859|PMID:15054402|PMID:15136673|PMID:15776425|PMID:16998732|PMID:18263758|PMID:20016818|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26467025|PMID:26553438|PMID:27812215|PMID:28008009|PMID:28492532|PMID:32071834|PMID:32180488|PMID:35389136 11859614 EIF2B4 eukaryotic translation initiation factor 2B subunit delta gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:733707 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:11835386|PMID:15054402|PMID:15136673|PMID:15507143|PMID:15776425|PMID:16998732|PMID:18263758|PMID:20016818|PMID:22430157|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26467025|PMID:26553438|PMID:27812215|PMID:28008009|PMID:28334938|PMID:28492532|PMID:32071834|PMID:32180488|PMID:32962729|PMID:33432707|PMID:35389136 11859614 EIF2B4 eukaryotic translation initiation factor 2B subunit delta gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:733707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11859614 EIF2B4 eukaryotic translation initiation factor 2B subunit delta gene DOID:3910 lung adenocarcinoma ISO RGD:733707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24366584 11859614 EIF2B4 eukaryotic translation initiation factor 2B subunit delta gene DOID:630 genetic disease ISO RGD:733707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15054402|PMID:15136673|PMID:15776425|PMID:18263758|PMID:20016818|PMID:22430157|PMID:25741868|PMID:28334938|PMID:28492532 11859614 EIF2B4 eukaryotic translation initiation factor 2B subunit delta gene DOID:9000160 Leukoencephalopathy with Vanishing White Matter 4 ISO RGD:733707 D RGD:7240710 20230505 OMIM 11859614 EIF2B4 eukaryotic translation initiation factor 2B subunit delta gene DOID:9000160 Leukoencephalopathy with Vanishing White Matter 4 ISO RGD:733707 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 4 PMID:11835386|PMID:12707859|PMID:15054402|PMID:15776425|PMID:18263758|PMID:25089094|PMID:25843247|PMID:28492532|PMID:29331873|PMID:33432707 11859614 EIF2B4 eukaryotic translation initiation factor 2B subunit delta gene DOID:9002704 Leukoencephalopathies ISO RGD:733707 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CACH/VWM syndrome | ClinVar Annotator: match by term: Childhood ataxia with diffuse central nervous system hypomyelination PMID:11835386|PMID:15054402|PMID:15136673|PMID:15507143|PMID:15776425|PMID:16998732|PMID:18263758|PMID:20016818|PMID:22430157|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26467025|PMID:26553438|PMID:27812215|PMID:28008009|PMID:28334938|PMID:28492532|PMID:32071834|PMID:32180488|PMID:32962729|PMID:33432707|PMID:35389136 11859614 EIF2B4 eukaryotic translation initiation factor 2B subunit delta gene DOID:9005348 Leukoencephalopathy with Vanishing White Matter 1 ISO RGD:733707 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1 PMID:11835386|PMID:15054402|PMID:15136673|PMID:15507143|PMID:15776425|PMID:16998732|PMID:18263758|PMID:20016818|PMID:22430157|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26467025|PMID:26553438|PMID:27812215|PMID:28008009|PMID:28334938|PMID:28492532|PMID:32071834|PMID:32180488|PMID:32962729|PMID:33432707|PMID:35389136 11859647 CNGA4 cyclic nucleotide gated channel subunit alpha 4 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11859647 CNGA4 cyclic nucleotide gated channel subunit alpha 4 gene DOID:630 genetic disease ISO RGD:1603715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859661 NMRK1 nicotinamide riboside kinase 1 gene DOID:630 genetic disease ISO RGD:1343469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859681 PHETA2 PH domain containing endocytic trafficking adaptor 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1604738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11859681 PHETA2 PH domain containing endocytic trafficking adaptor 2 gene DOID:0080600 COVID-19 ISO RGD:1604738 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11859681 PHETA2 PH domain containing endocytic trafficking adaptor 2 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1604738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 11859681 PHETA2 PH domain containing endocytic trafficking adaptor 2 gene DOID:1059 intellectual disability ISO RGD:1604738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11859681 PHETA2 PH domain containing endocytic trafficking adaptor 2 gene DOID:630 genetic disease ISO RGD:1604738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859681 PHETA2 PH domain containing endocytic trafficking adaptor 2 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1604738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 11859705 MALSU1 mitochondrial assembly of ribosomal large subunit 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11859705 MALSU1 mitochondrial assembly of ribosomal large subunit 1 gene DOID:630 genetic disease ISO RGD:1315834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859713 KIF25 kinesin family member 25 gene DOID:630 genetic disease ISO RGD:1345652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859733 GPATCH2L G-patch domain containing 2 like gene DOID:1059 intellectual disability ISO RGD:1318945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11859733 GPATCH2L G-patch domain containing 2 like gene DOID:630 genetic disease ISO RGD:1318945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859757 ACAA1 acetyl-CoA acyltransferase 1 gene DOID:0050451 Brugada syndrome ISO RGD:69012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 11859757 ACAA1 acetyl-CoA acyltransferase 1 gene DOID:6000 congestive heart failure ISO RGD:1621308 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 11859757 ACAA1 acetyl-CoA acyltransferase 1 gene DOID:630 genetic disease ISO RGD:69012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859757 ACAA1 acetyl-CoA acyltransferase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:67379 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:17632588|REF_RGD_ID:2313044 11859757 ACAA1 acetyl-CoA acyltransferase 1 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:69012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 11859790 DHFR2 dihydrofolate reductase 2 gene DOID:0111003 Joubert syndrome 8 ISO RGD:1346515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 8 PMID:28492532 11859790 DHFR2 dihydrofolate reductase 2 gene DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency ISO RGD:1346515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive PMID:16363235|PMID:22627709|PMID:28492532|PMID:9241758 11859790 DHFR2 dihydrofolate reductase 2 gene DOID:2451 protein S deficiency ISO RGD:1346515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Protein S deficiency disease PMID:32581362 11859817 SKIDA1 SKI/DACH domain containing 1 gene DOID:630 genetic disease ISO RGD:1606383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859824 LOC100974931 olfactory receptor 1013 gene DOID:1059 intellectual disability ISO RGD:1342549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11859824 LOC100974931 olfactory receptor 1013 gene DOID:630 genetic disease ISO RGD:1342549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859825 BCR BCR activator of RhoGEF and GTPase gene DOID:0070004 myeloid neoplasm ISO RGD:1317506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22875613 11859825 BCR BCR activator of RhoGEF and GTPase gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1615754 D RGD:9068941 20210129 RGD BCR/ABL fusion PMID:9310467|REF_RGD_ID:41404633 11859825 BCR BCR activator of RhoGEF and GTPase gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:1317506 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:25741868|PMID:28492532 11859825 BCR BCR activator of RhoGEF and GTPase gene DOID:11198 DiGeorge syndrome ISO RGD:1317506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 11859825 BCR BCR activator of RhoGEF and GTPase gene DOID:1240 leukemia ISO RGD:1317506 D RGD:9068941 20200609 RGD PMID:11313935|REF_RGD_ID:11038780 11859825 BCR BCR activator of RhoGEF and GTPase gene DOID:5419 schizophrenia ISO RGD:1317506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11859825 BCR BCR activator of RhoGEF and GTPase gene DOID:630 genetic disease ISO RGD:1317506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859825 BCR BCR activator of RhoGEF and GTPase gene DOID:8552 chronic myeloid leukemia ISO RGD:1317506 D RGD:7240710 20180130 OMIM 11859825 BCR BCR activator of RhoGEF and GTPase gene DOID:8552 chronic myeloid leukemia disease_progression ISO RGD:1317506 D RGD:9068941 20200609 RGD DNA:methylation: : PMID:7683349|REF_RGD_ID:11038783 11859825 BCR BCR activator of RhoGEF and GTPase gene DOID:8552 chronic myeloid leukemia disease_progression ISO RGD:1317506 D RGD:9068941 20200609 RGD DNA:translocations:cds: PMID:2683759|REF_RGD_ID:11038776 11859825 BCR BCR activator of RhoGEF and GTPase gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:1317506 D RGD:9068941 20200609 RGD DNA:gene fusion PMID:3101769|REF_RGD_ID:1600510 11859825 BCR BCR activator of RhoGEF and GTPase gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:1317506 D RGD:9068941 20210129 RGD BCR/ABL fusion PMID:12613514|REF_RGD_ID:41404631 11859825 BCR BCR activator of RhoGEF and GTPase gene DOID:8692 myeloid leukemia ISO RGD:12120212 D RGD:9068941 20230406 OMIA Leukaemia, chronic monocytic PMID:21143615|PMID:37009802 11859825 BCR BCR activator of RhoGEF and GTPase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11859825 BCR BCR activator of RhoGEF and GTPase gene DOID:9002170 Experimental Neoplasms ISO RGD:1317506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878872 11859825 BCR BCR activator of RhoGEF and GTPase gene DOID:9002473 Blast Crisis ISO RGD:1317506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21570118 11859825 BCR BCR activator of RhoGEF and GTPase gene DOID:9002867 Myeloid Leukemia, Chronic-Phase disease_progression ISO RGD:1317506 D RGD:9068941 20200609 RGD PMID:19344397|REF_RGD_ID:11038809 11859825 BCR BCR activator of RhoGEF and GTPase gene DOID:9005749 Necrosis ISO RGD:1317506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23211037 11859825 BCR BCR activator of RhoGEF and GTPase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1317506 D RGD:7240710 20230505 OMIM 11859846 NIPBL NIPBL cohesin loading factor gene DOID:0050581 brachydactyly ISO RGD:1604032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:25741868 11859846 NIPBL NIPBL cohesin loading factor gene DOID:0080006 bone development disease ISO RGD:1604032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19763162 11859846 NIPBL NIPBL cohesin loading factor gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1604032 D RGD:7240710 20190424 OMIM 11859846 NIPBL NIPBL cohesin loading factor gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1604032 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:11391654|PMID:15146185|PMID:15146186|PMID:15318302|PMID:15591270|PMID:16100726|PMID:16199547|PMID:16236812|PMID:17106445|PMID:17221863|PMID:17576681|PMID:17661813|PMID:18414213|PMID:19763162|PMID:20301283|PMID:20358602|PMID:20583156|PMID:20824775|PMID:22581668|PMID:22857006|PMID:23254390|PMID:23304577|PMID:23313159|PMID:23505322|PMID:24038889|PMID:24145515|PMID:24218399|PMID:24635725|PMID:24689074|PMID:24759409|PMID:24874887|PMID:24918291|PMID:25125236|PMID:25447906|PMID:25574841|PMID:25640679|PMID:25741868|PMID:25991456|PMID:25996639|PMID:26467025|PMID:26597256|PMID:26701315|PMID:26725122|PMID:26925417|PMID:26938784|PMID:28425213|PMID:28492532|PMID:28588001|PMID:29159939|PMID:29620724|PMID:29764576|PMID:29995837|PMID:30057591|PMID:30158690|PMID:30606125|PMID:31019026|PMID:31157197|PMID:31337854|PMID:32005694|PMID:34008892|PMID:35769956|PMID:9536098 11859846 NIPBL NIPBL cohesin loading factor gene DOID:0110564 autosomal dominant nonsyndromic deafness 3A ISO RGD:1604032 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3a PMID:25741868 11859846 NIPBL NIPBL cohesin loading factor gene DOID:1059 intellectual disability ISO RGD:1604032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11859846 NIPBL NIPBL cohesin loading factor gene DOID:11383 cryptorchidism ISO RGD:1604032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryptorchidism PMID:25741868 11859846 NIPBL NIPBL cohesin loading factor gene DOID:11725 Cornelia de Lange syndrome ISO RGD:1604032 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brachmann de Lange syndrome | ClinVar Annotator: match by term: De Lange syndrome | ClinVar Annotator: match by term: Typus degenerativus amstelodamensis PMID:15318302|PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532 11859846 NIPBL NIPBL cohesin loading factor gene DOID:11725 Cornelia de Lange syndrome severity ISO RGD:1604032 D RGD:9068941 20221027 RGD DNA:mutations:cds: PMID:27125329|REF_RGD_ID:155630600 11859846 NIPBL NIPBL cohesin loading factor gene DOID:12712 nephronophthisis ISO RGD:1604032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis 11859846 NIPBL NIPBL cohesin loading factor gene DOID:1682 congenital heart disease ISO RGD:1604032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19763162 11859846 NIPBL NIPBL cohesin loading factor gene DOID:630 genetic disease ISO RGD:1604032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15318302|PMID:16199547|PMID:17576681|PMID:17661813|PMID:18414213|PMID:19763162|PMID:20358602|PMID:22857006|PMID:23254390|PMID:23505322|PMID:24038889|PMID:24918291|PMID:25125236|PMID:25574841|PMID:25741868|PMID:25996639|PMID:26467025|PMID:26597256|PMID:26701315|PMID:26925417|PMID:28492532|PMID:28518168|PMID:28588001|PMID:29159939|PMID:29995837|PMID:30606125|PMID:31157197|PMID:32033219|PMID:32461654|PMID:9536098 11859846 NIPBL NIPBL cohesin loading factor gene DOID:6419 tetralogy of Fallot ISO RGD:1604032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:25741868 11859846 NIPBL NIPBL cohesin loading factor gene DOID:9002500 Hearing Disorders ISO RGD:1604032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19763162 11859846 NIPBL NIPBL cohesin loading factor gene DOID:9004203 Chromosome Breakage ISO RGD:1604032 D RGD:9068941 20230128 CTD CTD Direct Evidence: marker/mechanism PMID:35435490 11859846 NIPBL NIPBL cohesin loading factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11859846 NIPBL NIPBL cohesin loading factor gene DOID:9008086 Developmental Disabilities ISO RGD:1604032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:17576681|PMID:25741868|PMID:28492532|PMID:30606125|PMID:31157197|PMID:9536098 11859846 NIPBL NIPBL cohesin loading factor gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1604032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19763162 11859846 NIPBL NIPBL cohesin loading factor gene DOID:9009021 Plagiocephaly ISO RGD:1604032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Plagiocephaly PMID:30311386 11859905 CTIF cap binding complex dependent translation initiation factor gene DOID:1059 intellectual disability ISO RGD:1350648 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11859905 CTIF cap binding complex dependent translation initiation factor gene DOID:630 genetic disease ISO RGD:1350648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859943 VPS9D1 VPS9 domain containing 1 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1352238 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 11859943 VPS9D1 VPS9 domain containing 1 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1352238 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11859943 VPS9D1 VPS9 domain containing 1 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1352238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:23613520 11859943 VPS9D1 VPS9 domain containing 1 gene DOID:13636 Fanconi anemia ISO RGD:1352238 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 11859943 VPS9D1 VPS9 domain containing 1 gene DOID:14780 KBG syndrome ISO RGD:1352238 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 11859943 VPS9D1 VPS9 domain containing 1 gene DOID:630 genetic disease ISO RGD:1352238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11859962 TUBB6 tubulin beta 6 class V gene DOID:0050944 spastic ataxia 5 ISO RGD:1343714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 5 PMID:25741868|PMID:26467025|PMID:27165006|PMID:28492532 11859962 TUBB6 tubulin beta 6 class V gene DOID:0050977 spinocerebellar ataxia type 28 ISO RGD:1343714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 28 PMID:25741868|PMID:26467025|PMID:27165006|PMID:28492532 11859962 TUBB6 tubulin beta 6 class V gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1343714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11859962 TUBB6 tubulin beta 6 class V gene DOID:0080840 optic atrophy 12 ISO RGD:1343714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic atrophy 12 PMID:25741868 11859962 TUBB6 tubulin beta 6 class V gene DOID:1059 intellectual disability ISO RGD:1343714 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11859962 TUBB6 tubulin beta 6 class V gene DOID:543 dystonia ISO RGD:1343714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 11859962 TUBB6 tubulin beta 6 class V gene DOID:630 genetic disease ISO RGD:1343714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11859962 TUBB6 tubulin beta 6 class V gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11859962 TUBB6 tubulin beta 6 class V gene DOID:9008248 Congenital Facial Palsy with Ptosis and Velopharyngeal Dysfunction ISO RGD:1343714 D RGD:7240710 20190315 OMIM 11859962 TUBB6 tubulin beta 6 class V gene DOID:9008248 Congenital Facial Palsy with Ptosis and Velopharyngeal Dysfunction ISO RGD:1343714 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Facial palsy, congenital, with ptosis and velopharyngeal dysfunction PMID:25741868|PMID:29016863 11859993 MAIP1 matrix AAA peptidase interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11860002 LMOD3 leiomodin 3 gene DOID:0110931 nemaline myopathy 10 ISO RGD:1603025 D RGD:7240710 20180130 OMIM 11860002 LMOD3 leiomodin 3 gene DOID:0110931 nemaline myopathy 10 ISO RGD:1603025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 10 PMID:17576681|PMID:25250574|PMID:25741868|PMID:28492532|PMID:28815944|PMID:30291184|PMID:30642739|PMID:31428121|PMID:9536098 11860002 LMOD3 leiomodin 3 gene DOID:630 genetic disease ISO RGD:1603025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11860014 SUCO SUN domain containing ossification factor gene DOID:0110344 osteogenesis imperfecta type 5 ISO RGD:1621340 D RGD:9068941 20220825 MouseDO OMIM:610967 11860014 SUCO SUN domain containing ossification factor gene DOID:1540 parathyroid carcinoma ISO RGD:1347236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11860014 SUCO SUN domain containing ossification factor gene DOID:630 genetic disease ISO RGD:1347236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11860014 SUCO SUN domain containing ossification factor gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1347236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 11860014 SUCO SUN domain containing ossification factor gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1347236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 11860014 SUCO SUN domain containing ossification factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11860050 PSMA7 proteasome 20S subunit alpha 7 gene DOID:630 genetic disease ISO RGD:737158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11860074 NR1D1 nuclear receptor subfamily 1 group D member 1 gene DOID:0070128 congenital nongoitrous hypothyroidism 6 ISO RGD:731848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 6 PMID:11075809|PMID:25741868|PMID:34008892 11860074 NR1D1 nuclear receptor subfamily 1 group D member 1 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:731848 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 11860074 NR1D1 nuclear receptor subfamily 1 group D member 1 gene DOID:0112313 brain small vessel disease ISO RGD:731848 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:promoter, exon:rs939347, rs2071570, rs12941497 (human) PMID:23083441|REF_RGD_ID:10448981 11860074 NR1D1 nuclear receptor subfamily 1 group D member 1 gene DOID:10762 portal hypertension treatment ISO RGD:628827 D RGD:9068941 20200609 RGD associated with Cholestasis PMID:24497272|REF_RGD_ID:10448995 11860074 NR1D1 nuclear receptor subfamily 1 group D member 1 gene DOID:13580 cholestasis ISO RGD:736119 D RGD:9068941 20200609 RGD PMID:24497272|REF_RGD_ID:10448995 11860074 NR1D1 nuclear receptor subfamily 1 group D member 1 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:731848 D RGD:9068941 20200609 RGD PMID:24497272|REF_RGD_ID:10448995 11860074 NR1D1 nuclear receptor subfamily 1 group D member 1 gene DOID:1459 hypothyroidism ISO RGD:628827 D RGD:9068941 20200609 RGD PMID:1315530|REF_RGD_ID:10448989 11860074 NR1D1 nuclear receptor subfamily 1 group D member 1 gene DOID:630 genetic disease ISO RGD:731848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11860074 NR1D1 nuclear receptor subfamily 1 group D member 1 gene DOID:7998 hyperthyroidism ISO RGD:628827 D RGD:9068941 20200609 RGD PMID:1315530|REF_RGD_ID:10448989 11860074 NR1D1 nuclear receptor subfamily 1 group D member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:736119 D RGD:9068941 20200609 RGD PMID:24497272|REF_RGD_ID:10448995 11860074 NR1D1 nuclear receptor subfamily 1 group D member 1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:628827 D RGD:9068941 20200609 RGD PMID:23637135|REF_RGD_ID:10448992 11860074 NR1D1 nuclear receptor subfamily 1 group D member 1 gene DOID:9452 fatty liver disease ISO RGD:731848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27664470 11860089 TNFRSF10C TNF receptor superfamily member 10c gene DOID:0080600 COVID-19 ISO RGD:1350284 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11860089 TNFRSF10C TNF receptor superfamily member 10c gene DOID:630 genetic disease ISO RGD:1350284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11860089 TNFRSF10C TNF receptor superfamily member 10c gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1350284 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11860089 TNFRSF10C TNF receptor superfamily member 10c gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1350284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 11860099 MCRS1 microspherule protein 1 gene DOID:630 genetic disease ISO RGD:1323153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11860128 PUM3 pumilio RNA binding family member 3 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1318702 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 11860128 PUM3 pumilio RNA binding family member 3 gene DOID:630 genetic disease ISO RGD:1318702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11860217 SHROOM2 shroom family member 2 gene DOID:12849 autistic disorder ISO RGD:1343092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11860217 SHROOM2 shroom family member 2 gene DOID:630 genetic disease ISO RGD:1343092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11860217 SHROOM2 shroom family member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11860217 SHROOM2 shroom family member 2 gene DOID:9849 Meniere's disease ISO RGD:1343092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:25741868 11860235 HES1 hes family bHLH transcription factor 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:62373 D RGD:9068941 20220204 RGD protein:increased expression:tongue (mouse) PMID:30624777|REF_RGD_ID:151347668 11860235 HES1 hes family bHLH transcription factor 1 gene DOID:1826 epilepsy treatment ISO RGD:62081 D RGD:9068941 20200609 RGD PMID:23928226|REF_RGD_ID:9685365 11860235 HES1 hes family bHLH transcription factor 1 gene DOID:264 hemangiopericytoma ISO RGD:1605434 D RGD:9068941 20221110 RGD mRNA:increased expression:anterior temporal lobe PMID:26951238|REF_RGD_ID:155663351 11860235 HES1 hes family bHLH transcription factor 1 gene DOID:3021 acute kidney failure ISO RGD:62081 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney collecting duct (rat) PMID:24397211|REF_RGD_ID:9685383 11860235 HES1 hes family bHLH transcription factor 1 gene DOID:3021 acute kidney failure ISO RGD:62081 D RGD:9068941 20200609 RGD protein:increased expression:kidney tubule (rat) PMID:24325066|REF_RGD_ID:9685389 11860235 HES1 hes family bHLH transcription factor 1 gene DOID:3068 glioblastoma ISO RGD:1605434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 11860235 HES1 hes family bHLH transcription factor 1 gene DOID:3181 oligodendroglioma ISO RGD:1605434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 11860235 HES1 hes family bHLH transcription factor 1 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:1605434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20038814 11860235 HES1 hes family bHLH transcription factor 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:62373 D RGD:9068941 20200609 RGD protein:increased expression:spinal chord PMID:26067594|REF_RGD_ID:13524575 11860235 HES1 hes family bHLH transcription factor 1 gene DOID:3565 meningioma ISO RGD:1605434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 11860235 HES1 hes family bHLH transcription factor 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1605434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 11860235 HES1 hes family bHLH transcription factor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21994468 11860235 HES1 hes family bHLH transcription factor 1 gene DOID:5199 ureteral obstruction ISO RGD:1605434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 11860235 HES1 hes family bHLH transcription factor 1 gene DOID:5419 schizophrenia ISO RGD:1605434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11860235 HES1 hes family bHLH transcription factor 1 gene DOID:630 genetic disease ISO RGD:1605434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11860235 HES1 hes family bHLH transcription factor 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:62081 D RGD:9068941 20200609 RGD rat gene in a mouse model PMID:19861684|REF_RGD_ID:9685380 11860235 HES1 hes family bHLH transcription factor 1 gene DOID:8947 diabetic retinopathy ISO RGD:62373 D RGD:9068941 20221110 RGD mRNA:increased expression:retina: PMID:30787185|REF_RGD_ID:155663348 11860235 HES1 hes family bHLH transcription factor 1 gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:1605434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 11860235 HES1 hes family bHLH transcription factor 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1605434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19147571 11860235 HES1 hes family bHLH transcription factor 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1605434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25061499 11860235 HES1 hes family bHLH transcription factor 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:62373 D RGD:9068941 20221111 RGD PMID:23188126|REF_RGD_ID:155663352 11860235 HES1 hes family bHLH transcription factor 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1605434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17804716 11860235 HES1 hes family bHLH transcription factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1605434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20197467|PMID:21036696 11860235 HES1 hes family bHLH transcription factor 1 gene DOID:9351 diabetes mellitus ISO RGD:62373 D RGD:9068941 20221110 RGD protein:increased expression:skin: PMID:30886104|REF_RGD_ID:155646129 11860243 FTCD formimidoyltransferase cyclodeaminase gene DOID:0050558 Ullrich congenital muscular dystrophy ISO RGD:733688 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 PMID:24801232|PMID:25741868|PMID:26467025|PMID:28492532 11860243 FTCD formimidoyltransferase cyclodeaminase gene DOID:0050663 Bethlem myopathy ISO RGD:733688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, benign congenital PMID:18414213|PMID:24801232|PMID:25741868|PMID:26467025|PMID:28492532 11860243 FTCD formimidoyltransferase cyclodeaminase gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:733688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11860243 FTCD formimidoyltransferase cyclodeaminase gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:733688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 11860243 FTCD formimidoyltransferase cyclodeaminase gene DOID:0110266 cataract 9 multiple types ISO RGD:733688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11860243 FTCD formimidoyltransferase cyclodeaminase gene DOID:0111679 glutamate formiminotransferase deficiency ISO RGD:733688 D RGD:7240710 20180130 OMIM 11860243 FTCD formimidoyltransferase cyclodeaminase gene DOID:0111679 glutamate formiminotransferase deficiency ISO RGD:733688 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glutamate formiminotransferase deficiency PMID:12815595|PMID:17576681|PMID:18414213|PMID:23757202|PMID:24801232|PMID:25741868|PMID:26467025|PMID:26633545|PMID:28492532|PMID:29178637|PMID:29869163|PMID:30740726|PMID:31589614|PMID:9536098 11860243 FTCD formimidoyltransferase cyclodeaminase gene DOID:1059 intellectual disability ISO RGD:733688 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26633545|PMID:28492532 11860243 FTCD formimidoyltransferase cyclodeaminase gene DOID:12849 autistic disorder ISO RGD:733688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11860243 FTCD formimidoyltransferase cyclodeaminase gene DOID:2661 myoepithelioma ISO RGD:733688 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor PMID:28492532 11860243 FTCD formimidoyltransferase cyclodeaminase gene DOID:630 genetic disease ISO RGD:733688 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12815595|PMID:23757202|PMID:25741868|PMID:26633545|PMID:28492532|PMID:29178637|PMID:29869163|PMID:30740726 11860243 FTCD formimidoyltransferase cyclodeaminase gene DOID:8584 Burkitt lymphoma ISO RGD:733688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 11860243 FTCD formimidoyltransferase cyclodeaminase gene DOID:891 progressive myoclonus epilepsy ISO RGD:733688 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11860243 FTCD formimidoyltransferase cyclodeaminase gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:733688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:18414213|PMID:24801232|PMID:25741868|PMID:26467025|PMID:28492532 11860243 FTCD formimidoyltransferase cyclodeaminase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11860243 FTCD formimidoyltransferase cyclodeaminase gene DOID:9007626 Myosclerosis, Autosomal Recessive ISO RGD:733688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myosclerosis PMID:18414213|PMID:24801232|PMID:25741868|PMID:26467025|PMID:28492532 11860243 FTCD formimidoyltransferase cyclodeaminase gene DOID:9007913 Collagen VI-related Myopathy ISO RGD:733688 D RGD:8554872 20220531 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:18414213|PMID:24801232|PMID:25741868|PMID:26467025|PMID:28492532 11860243 FTCD formimidoyltransferase cyclodeaminase gene DOID:9263 homocystinuria ISO RGD:733688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11860243 FTCD formimidoyltransferase cyclodeaminase gene DOID:9562 primary ciliary dyskinesia ISO RGD:733688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11860261 CDC42EP2 CDC42 effector protein 2 gene DOID:1059 intellectual disability ISO RGD:1321045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11860261 CDC42EP2 CDC42 effector protein 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1321045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11860261 CDC42EP2 CDC42 effector protein 2 gene DOID:2746 glycogen storage disease V ISO RGD:1321045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11860261 CDC42EP2 CDC42 effector protein 2 gene DOID:3070 high grade glioma ISO RGD:1321045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11860261 CDC42EP2 CDC42 effector protein 2 gene DOID:630 genetic disease ISO RGD:1321045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11860261 CDC42EP2 CDC42 effector protein 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1321045 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11860261 CDC42EP2 CDC42 effector protein 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1321045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11860274 LOC100980434 chromosome 8 C8orf31 homolog gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1606663 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 11860274 LOC100980434 chromosome 8 C8orf31 homolog gene DOID:4621 holoprosencephaly ISO RGD:1606663 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11860291 BLZF1 basic leucine zipper nuclear factor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1349052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11860291 BLZF1 basic leucine zipper nuclear factor 1 gene DOID:630 genetic disease ISO RGD:1349052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11860291 BLZF1 basic leucine zipper nuclear factor 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1349052 D RGD:9068941 20200609 RGD PMID:26342799|REF_RGD_ID:14398326 11860291 BLZF1 basic leucine zipper nuclear factor 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1349052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 11860291 BLZF1 basic leucine zipper nuclear factor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11860305 RGCC regulator of cell cycle gene DOID:630 genetic disease ISO RGD:733140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11860305 RGCC regulator of cell cycle gene DOID:9007102 Myocardial Ischemia ISO RGD:733140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11860314 KIF13B kinesin family member 13B gene DOID:630 genetic disease ISO RGD:1349792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11860357 TMPRSS5 transmembrane serine protease 5 gene DOID:1059 intellectual disability ISO RGD:732836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11860357 TMPRSS5 transmembrane serine protease 5 gene DOID:630 genetic disease ISO RGD:732836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11860357 TMPRSS5 transmembrane serine protease 5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:732836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11860372 MOAP1 modulator of apoptosis 1 gene DOID:0080054 achondrogenesis type IA ISO RGD:1316298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11860377 EED embryonic ectoderm development gene DOID:0060041 autism spectrum disorder ISO RGD:1320306 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11860377 EED embryonic ectoderm development gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1320306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 11860377 EED embryonic ectoderm development gene DOID:1059 intellectual disability ISO RGD:1320306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11860377 EED embryonic ectoderm development gene DOID:224 transient cerebral ischemia ISO RGD:1309782 D RGD:9068941 20200609 RGD PMID:24007266|REF_RGD_ID:9588303 11860377 EED embryonic ectoderm development gene DOID:3192 neurilemmoma ISO RGD:1320306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 11860377 EED embryonic ectoderm development gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1320306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11860377 EED embryonic ectoderm development gene DOID:630 genetic disease ISO RGD:1320306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 11860377 EED embryonic ectoderm development gene DOID:9001209 Cohen-Gibson Syndrome ISO RGD:1320306 D RGD:7240710 20190315 OMIM 11860377 EED embryonic ectoderm development gene DOID:9001209 Cohen-Gibson Syndrome ISO RGD:1320306 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cohen-Gibson syndrome PMID:17576681|PMID:25741868|PMID:27193220|PMID:27868325|PMID:28119537|PMID:28229514|PMID:28475857|PMID:28492532|PMID:30858506|PMID:9536098 11860377 EED embryonic ectoderm development gene DOID:9004217 Nerve Sheath Neoplasms ISO RGD:1320306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25240281 11860377 EED embryonic ectoderm development gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1320307 D RGD:9068941 20221103 RGD mRNA:altered expression:kidney (mouse) PMID:18467665|REF_RGD_ID:155631277 11860398 STARD6 StAR related lipid transfer domain containing 6 gene DOID:1059 intellectual disability ISO RGD:1351128 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11860398 STARD6 StAR related lipid transfer domain containing 6 gene DOID:630 genetic disease ISO RGD:1351128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11860415 TMEM132B transmembrane protein 132B gene DOID:1909 melanoma ISO RGD:1606181 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 11860415 TMEM132B transmembrane protein 132B gene DOID:630 genetic disease ISO RGD:1606181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11860432 OSBPL7 oxysterol binding protein like 7 gene DOID:0070347 encephalopathy due to defective mitochondrial and peroxisomal fission 1 ISO RGD:1319316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 PMID:25741868 11860432 OSBPL7 oxysterol binding protein like 7 gene DOID:4947 cholangiocarcinoma ISO RGD:1319316 D RGD:9068941 20210129 RGD mRNA:increased expression:blood PMID:21763455|REF_RGD_ID:41404644 11860432 OSBPL7 oxysterol binding protein like 7 gene DOID:630 genetic disease ISO RGD:1319316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11860468 DUSP14 dual specificity phosphatase 14 gene DOID:0060041 autism spectrum disorder ISO RGD:1316598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 11860468 DUSP14 dual specificity phosphatase 14 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1316598 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 11860468 DUSP14 dual specificity phosphatase 14 gene DOID:12849 autistic disorder ISO RGD:1316598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11860468 DUSP14 dual specificity phosphatase 14 gene DOID:5419 schizophrenia ISO RGD:1316598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11860468 DUSP14 dual specificity phosphatase 14 gene DOID:630 genetic disease ISO RGD:1316598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11860468 DUSP14 dual specificity phosphatase 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11860468 DUSP14 dual specificity phosphatase 14 gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:1316598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 11860478 CEP72 centrosomal protein 72 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1603993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 11860478 CEP72 centrosomal protein 72 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1603993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 11860478 CEP72 centrosomal protein 72 gene DOID:630 genetic disease ISO RGD:1603993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11860478 CEP72 centrosomal protein 72 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1603993 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 11860514 MAGEL2 MAGE family member L2 gene DOID:0060041 autism spectrum disorder ISO RGD:1320098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 11860514 MAGEL2 MAGE family member L2 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1320098 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 11860514 MAGEL2 MAGE family member L2 gene DOID:0111715 Schaaf-Yang syndrome ISO RGD:1320098 D RGD:7240710 20180130 OMIM 11860514 MAGEL2 MAGE family member L2 gene DOID:0111715 Schaaf-Yang syndrome ISO RGD:1320098 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Schaaf-Yang syndrome PMID:24076603|PMID:24088041|PMID:25326635|PMID:25473036|PMID:25590979|PMID:25741868|PMID:26365340|PMID:26633545|PMID:27195816|PMID:27632685|PMID:28281571|PMID:28492532|PMID:29581464|PMID:29599419|PMID:29660409|PMID:30302899|PMID:31152388|PMID:31397880|PMID:31680349|PMID:32860008|PMID:33371171 11860514 MAGEL2 MAGE family member L2 gene DOID:1059 intellectual disability ISO RGD:1320098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11860514 MAGEL2 MAGE family member L2 gene DOID:11983 Prader-Willi syndrome ISO RGD:1320098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:25741868|PMID:27195816|PMID:28281571|PMID:28492532|PMID:28631899 11860514 MAGEL2 MAGE family member L2 gene DOID:12849 autistic disorder ISO RGD:1320098 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:28492532|PMID:30208311|PMID:31690835 11860514 MAGEL2 MAGE family member L2 gene DOID:1826 epilepsy ISO RGD:1320098 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11860514 MAGEL2 MAGE family member L2 gene DOID:1923 disorder of sexual development ISO RGD:1320098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ambiguous genitalia PMID:24076603|PMID:25741868|PMID:26365340|PMID:27195816|PMID:28492532|PMID:30302899|PMID:31152388|PMID:31680349 11860514 MAGEL2 MAGE family member L2 gene DOID:1932 Angelman syndrome ISO RGD:1320098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:24088041|PMID:26633545 11860514 MAGEL2 MAGE family member L2 gene DOID:5419 schizophrenia ISO RGD:1320098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11860514 MAGEL2 MAGE family member L2 gene DOID:630 genetic disease ISO RGD:1320098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28281571|PMID:28492532|PMID:29581464|PMID:29599419|PMID:29660409|PMID:30302899|PMID:30323850 11860514 MAGEL2 MAGE family member L2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320098 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:29660409|PMID:30302899 11860514 MAGEL2 MAGE family member L2 gene DOID:9008582 Developmental Disease ISO RGD:1320098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11860523 PTPMT1 protein tyrosine phosphatase mitochondrial 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1605594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11860523 PTPMT1 protein tyrosine phosphatase mitochondrial 1 gene DOID:1059 intellectual disability ISO RGD:1605594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11860523 PTPMT1 protein tyrosine phosphatase mitochondrial 1 gene DOID:630 genetic disease ISO RGD:1605594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11860531 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:0060041 autism spectrum disorder ISO RGD:735407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11860531 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:0060067 Pearson syndrome ISO RGD:735407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pearson syndrome PMID:25741868|PMID:28492532 11860531 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:735407 D RGD:7240710 20180130 OMIM 11860531 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:735407 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: VLCAD deficiency | ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:10077518|PMID:10384387|PMID:10431122|PMID:10518280|PMID:10529389|PMID:10738914|PMID:10790204|PMID:11158518|PMID:11349232|PMID:11590124|PMID:11914034|PMID:12122118|PMID:12208138|PMID:12213615|PMID:12893739|PMID:14517516|PMID:14728674|PMID:15210884|PMID:16199547|PMID:16435213|PMID:16443431|PMID:16464760|PMID:16488171|PMID:16860141|PMID:16895136|PMID:16950999|PMID:16982043|PMID:17206456|PMID:17374501|PMID:17514507|PMID:17576681|PMID:17999356|PMID:18227065|PMID:18414213|PMID:18670371|PMID:19208414|PMID:19327992|PMID:20056241|PMID:2006090|PMID:20060901|PMID:20107901|PMID:20301763|PMID:20480395|PMID:20547398|PMID:20694756|PMID:21228398|PMID:21378393|PMID:21429517|PMID:21531094|PMID:21814341|PMID:21932095|PMID:22841441|PMID:22847164|PMID:23169530|PMID:23418865|PMID:23430948|PMID:23430950|PMID:23480858|PMID:23700290|PMID:23757202|PMID:23774949|PMID:23798014|PMID:23867825|PMID:23966064|PMID:24033266|PMID:24263034|PMID:24305961|PMID:24330285|PMID:24503138|PMID:24801231|PMID:24898617|PMID:25085675|PMID:25087612|PMID:25214167|PMID:25242572|PMID:25338548|PMID:25456746|PMID:25525159|PMID:25652019|PMID:25655073|PMID:25741868|PMID:25811481|PMID:25834949|PMID:25843429|PMID:26182500|PMID:26385305|PMID:26453363|PMID:26602010|PMID:26743058|PMID:26881790|PMID:26927351|PMID:26937394|PMID:27029698|PMID:27209629|PMID:27246109|PMID:27538624|PMID:27884173|PMID:27943070|PMID:27995075|PMID:28468868|PMID:28492532|PMID:28600779|PMID:28747690|PMID:28755339|PMID:28755359|PMID:28871440|PMID:29111448|PMID:29268767|PMID:2951924|PMID:29552494|PMID:29961767|PMID:30023301|PMID:30194637|PMID:30950014|PMID:31031081|PMID:31191348|PMID:31497477|PMID:31620161|PMID:31737040|PMID:31794763|PMID:31983732|PMID:32054689|PMID:32061778|PMID:32276429|PMID:32518924|PMID:32558070|PMID:32581362|PMID:32655480|PMID:32710939|PMID:32778825|PMID:32793418|PMID:32798077|PMID:32860008|PMID:32928639|PMID:32954689|PMID:33123633|PMID:33150772|PMID:33610471|PMID:33986768|PMID:33996489|PMID:34184355|PMID:34194748|PMID:34426522|PMID:34437764|PMID:34704412|PMID:35281659|PMID:35400565|PMID:4022672|PMID:609575|PMID:7479827|PMID:7668252|PMID:7769092|PMID:8554073|PMID:8739957|PMID:8845838|PMID:9461620|PMID:9536098|PMID:9546340|PMID:9599005|PMID:9709714|PMID:9839948|PMID:9973285 11860531 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:2014 D RGD:9068941 20200609 RGD PMID:22569299|PMID:23076603|REF_RGD_ID:10047121|REF_RGD_ID:10047124 11860531 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:735407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 11860531 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:735407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 11860531 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:735407 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11860531 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:0111254 glutaric acidemia I ISO RGD:1318827 D RGD:9068941 20200609 RGD PMID:15840571|REF_RGD_ID:10047115 11860531 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:0112044 non-syndromic X-linked intellectual disability 98 ISO RGD:735407 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98 PMID:25741868 11860531 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:1059 intellectual disability ISO RGD:735407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11860531 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:10652 Alzheimer's disease ISO RGD:735407 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:25260493|REF_RGD_ID:10047114 11860531 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:12177 common variable immunodeficiency ISO RGD:735407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11860531 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:12930 dilated cardiomyopathy ISO RGD:735407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21932095|PMID:25087612|PMID:25741868|PMID:26385305|PMID:27209629|PMID:28468868|PMID:28492532|PMID:31031081|PMID:34437764|PMID:35281659 11860531 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:2729 dyskeratosis congenita ISO RGD:735407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11860531 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:3012 Li-Fraumeni syndrome ISO RGD:735407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11860531 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:423 myopathy ISO RGD:735407 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy PMID:14517516|PMID:19327992|PMID:20060901|PMID:21429517|PMID:23798014|PMID:25214167|PMID:25741868|PMID:26385305|PMID:28492532|PMID:30194637|PMID:9973285 11860531 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:735407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 11860531 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:630 genetic disease ISO RGD:735407 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10077518|PMID:11590124|PMID:12208138|PMID:12213615|PMID:14517516|PMID:16860141|PMID:17374501|PMID:17576681|PMID:17999356|PMID:19208414|PMID:19327992|PMID:20107901|PMID:20301763|PMID:21429517|PMID:21932095|PMID:23169530|PMID:23418865|PMID:23430948|PMID:23480858|PMID:23798014|PMID:23867825|PMID:24033266|PMID:24503138|PMID:24801231|PMID:25085675|PMID:25214167|PMID:25741868|PMID:26385305|PMID:26743058|PMID:26937394|PMID:27209629|PMID:27246109|PMID:28492532|PMID:28747690|PMID:28871440|PMID:30194637|PMID:30504930|PMID:31031081|PMID:32054689|PMID:32061778|PMID:32518924|PMID:32778825|PMID:32928639|PMID:32954689|PMID:34194748|PMID:34564390|PMID:35281659|PMID:35400565|PMID:7479827|PMID:8739957|PMID:8845838|PMID:9536098|PMID:9973285 11860531 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:9000064 Cardiac Arrhythmias ISO RGD:735407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868 11860531 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:9000884 Rhabdomyolysis ISO RGD:735407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:11158518|PMID:15210884|PMID:20060901|PMID:24801231|PMID:25741868|PMID:28492532|PMID:32581362|PMID:9546340|PMID:9973285 11860531 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:9001103 Heat Stress Disorders ISO RGD:2014 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:17374454|REF_RGD_ID:8553966 11860531 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:9002669 Hypoxia ISO RGD:735407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18258771 11860531 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:9003710 Autosomal Dominant Intellectual Developmental Disorder 62 ISO RGD:735407 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder 62 PMID:25741868|PMID:27618451 11860531 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10058 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:25260493|REF_RGD_ID:10047114 11860531 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:2014 D RGD:9068941 20200609 RGD PMID:25191539|REF_RGD_ID:10047118 11860558 CCSAP centriole, cilia and spindle associated protein gene DOID:1540 parathyroid carcinoma ISO RGD:1602440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11860558 CCSAP centriole, cilia and spindle associated protein gene DOID:630 genetic disease ISO RGD:1602440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11860558 CCSAP centriole, cilia and spindle associated protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11860564 MOBP myelin associated oligodendrocyte basic protein gene DOID:0050256 angiostrongyliasis disease_progression ISO RGD:10908 D RGD:9068941 20200609 RGD PMID:20399564|REF_RGD_ID:27226693 11860564 MOBP myelin associated oligodendrocyte basic protein gene DOID:1459 hypothyroidism ISO RGD:3101 D RGD:9068941 20200609 RGD PMID:11592121|REF_RGD_ID:27226698 11860564 MOBP myelin associated oligodendrocyte basic protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 11860564 MOBP myelin associated oligodendrocyte basic protein gene DOID:630 genetic disease ISO RGD:736574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11860564 MOBP myelin associated oligodendrocyte basic protein gene DOID:678 progressive supranuclear palsy ISO RGD:736574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21685912 11860564 MOBP myelin associated oligodendrocyte basic protein gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10908 D RGD:9068941 20200609 RGD PMID:10623862|REF_RGD_ID:27226694 11860564 MOBP myelin associated oligodendrocyte basic protein gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:3101 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina: PMID:21350694|REF_RGD_ID:10401135 11860564 MOBP myelin associated oligodendrocyte basic protein gene DOID:9255 frontotemporal dementia disease_progression ISO RGD:736574 D RGD:9068941 20200609 RGD DNA:SNP: :rs1768208(human) PMID:24994843|REF_RGD_ID:27226701 11860596 LMBRD1 LMBR1 domain containing 1 gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:733977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:19136951|PMID:21303734|PMID:23776111|PMID:24664876|PMID:25741868|PMID:26997947|PMID:28492532 11860596 LMBRD1 LMBR1 domain containing 1 gene DOID:0050717 methylmalonic aciduria and homocystinuria type cblF ISO RGD:733977 D RGD:7240710 20180130 OMIM 11860596 LMBRD1 LMBR1 domain containing 1 gene DOID:0050717 methylmalonic aciduria and homocystinuria type cblF ISO RGD:733977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF PMID:16199547|PMID:17576681|PMID:19136951|PMID:21303734|PMID:23776111|PMID:24664876|PMID:25047945|PMID:25741868|PMID:26997947|PMID:28492532|PMID:9536098 11860596 LMBRD1 LMBR1 domain containing 1 gene DOID:0090144 Donnai-Barrow syndrome ISO RGD:733977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Donnai-Barrow syndrome PMID:19136951|PMID:25741868|PMID:28492532 11860596 LMBRD1 LMBR1 domain containing 1 gene DOID:630 genetic disease ISO RGD:733977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:19136951|PMID:21303734|PMID:23776111|PMID:24664876|PMID:25741868|PMID:26997947|PMID:28492532 11860596 LMBRD1 LMBR1 domain containing 1 gene DOID:655 inherited metabolic disorder ISO RGD:733977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:19136951|PMID:21303734|PMID:23776111|PMID:24664876|PMID:25741868|PMID:26997947|PMID:28492532 11860618 ATP8A1 ATPase phospholipid transporting 8A1 gene DOID:630 genetic disease ISO RGD:1320053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11860662 LOC100990096 cadherin-10 gene DOID:0060041 autism spectrum disorder ISO RGD:1350088 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 11860662 LOC100990096 cadherin-10 gene DOID:12849 autistic disorder ISO RGD:1350088 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19404256 11860662 LOC100990096 cadherin-10 gene DOID:1324 lung cancer ISO RGD:1350088 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 11860662 LOC100990096 cadherin-10 gene DOID:630 genetic disease ISO RGD:1350088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11860662 LOC100990096 cadherin-10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11860682 NAT2 N-acetyltransferase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:732527 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11860682 NAT2 N-acetyltransferase 2 gene DOID:0060500 drug allergy ISO RGD:732527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159|PMID:20602614|PMID:21572414 11860682 NAT2 N-acetyltransferase 2 gene DOID:0080074 neural tube defect ISO RGD:732527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20641098 11860682 NAT2 N-acetyltransferase 2 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:732527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 11860682 NAT2 N-acetyltransferase 2 gene DOID:10283 prostate cancer susceptibility ISO RGD:732527 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:12355549|REF_RGD_ID:2303760 11860682 NAT2 N-acetyltransferase 2 gene DOID:11054 urinary bladder cancer ISO RGD:732527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10022756|PMID:15717312|PMID:18505952|PMID:20972438|PMID:24221535 11860682 NAT2 N-acetyltransferase 2 gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:732527 D RGD:9068941 20200609 RGD PMID:16327307|REF_RGD_ID:8552670 11860682 NAT2 N-acetyltransferase 2 gene DOID:1240 leukemia no_association ISO RGD:732527 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:10383893|REF_RGD_ID:10755329 11860682 NAT2 N-acetyltransferase 2 gene DOID:1240 leukemia susceptibility ISO RGD:732527 D RGD:9068941 20200609 RGD PMID:20884738|REF_RGD_ID:11532768 11860682 NAT2 N-acetyltransferase 2 gene DOID:1324 lung cancer no_association ISO RGD:732527 D RGD:9068941 20200609 RGD PMID:15808403|REF_RGD_ID:5131861 11860682 NAT2 N-acetyltransferase 2 gene DOID:1324 lung cancer susceptibility ISO RGD:732527 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:19558213|REF_RGD_ID:5131605 11860682 NAT2 N-acetyltransferase 2 gene DOID:13241 Behcet's disease susceptibility ISO RGD:732527 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:15663505|REF_RGD_ID:8552650 11860682 NAT2 N-acetyltransferase 2 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:732527 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:9343502|REF_RGD_ID:2303766 11860682 NAT2 N-acetyltransferase 2 gene DOID:1790 malignant mesothelioma ISO RGD:732527 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:16697254 11860682 NAT2 N-acetyltransferase 2 gene DOID:1790 malignant mesothelioma susceptibility ISO RGD:732527 D RGD:9068941 20200609 RGD PMID:15993904|REF_RGD_ID:5131858 11860682 NAT2 N-acetyltransferase 2 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:732527 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:18027363|REF_RGD_ID:2317169 11860682 NAT2 N-acetyltransferase 2 gene DOID:2671 transitional cell carcinoma susceptibility ISO RGD:732527 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:12402313|REF_RGD_ID:2303765 11860682 NAT2 N-acetyltransferase 2 gene DOID:2841 asthma ISO RGD:732527 D RGD:9068941 20200609 RGD Asthma, Aspirin-Induced; DNA:polymorphism: : PMID:20602614|REF_RGD_ID:5131600 11860682 NAT2 N-acetyltransferase 2 gene DOID:2841 asthma susceptibility ISO RGD:732527 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:16924569|REF_RGD_ID:5131606 11860682 NAT2 N-acetyltransferase 2 gene DOID:2876 laryngeal squamous cell carcinoma susceptibility ISO RGD:732527 D RGD:9068941 20200609 RGD PMID:19922706|REF_RGD_ID:5131602 11860682 NAT2 N-acetyltransferase 2 gene DOID:2876 laryngeal squamous cell carcinoma susceptibility ISO RGD:732527 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:16155914|REF_RGD_ID:5131856 11860682 NAT2 N-acetyltransferase 2 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:732527 D RGD:9068941 20200609 RGD PMID:20297661|REF_RGD_ID:4140932 11860682 NAT2 N-acetyltransferase 2 gene DOID:3042 allergic contact dermatitis susceptibility ISO RGD:732527 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:16533241|REF_RGD_ID:8552663 11860682 NAT2 N-acetyltransferase 2 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:732527 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:12884528|PMID:17442289|REF_RGD_ID:4892219|REF_RGD_ID:5131863 11860682 NAT2 N-acetyltransferase 2 gene DOID:3310 atopic dermatitis no_association ISO RGD:732527 D RGD:9068941 20200609 RGD DNA:polymorphisms: :481C>T,590G>A,857G>A(human) PMID:14528063|REF_RGD_ID:8552668 11860682 NAT2 N-acetyltransferase 2 gene DOID:3310 atopic dermatitis susceptibility ISO RGD:732527 D RGD:9068941 20200609 RGD DNA:polymorphisms: :481C>T, 590G>A(human) PMID:16224574|REF_RGD_ID:8552664 11860682 NAT2 N-acetyltransferase 2 gene DOID:3393 coronary artery disease ISO RGD:732527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21572414 11860682 NAT2 N-acetyltransferase 2 gene DOID:418 systemic scleroderma susceptibility ISO RGD:732527 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:10599336|REF_RGD_ID:5147680 11860682 NAT2 N-acetyltransferase 2 gene DOID:4404 occupational dermatitis ISO RGD:732527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19834256 11860682 NAT2 N-acetyltransferase 2 gene DOID:4404 occupational dermatitis susceptibility ISO RGD:732527 D RGD:9068941 20200609 RGD DNA:polymorphisms:: PMID:19834256|REF_RGD_ID:8552685 11860682 NAT2 N-acetyltransferase 2 gene DOID:4947 cholangiocarcinoma ISO RGD:732527 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:15901993|REF_RGD_ID:2317172 11860682 NAT2 N-acetyltransferase 2 gene DOID:5614 eye disease ISO RGD:732528 D RGD:9068941 20200609 RGD PMID:17487534|REF_RGD_ID:8552648 11860682 NAT2 N-acetyltransferase 2 gene DOID:615 leukopenia ISO RGD:732527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12795783 11860682 NAT2 N-acetyltransferase 2 gene DOID:630 genetic disease ISO RGD:732527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11860682 NAT2 N-acetyltransferase 2 gene DOID:678 progressive supranuclear palsy ISO RGD:732527 D RGD:9068941 20200609 RGD PMID:22424094|REF_RGD_ID:8552652 11860682 NAT2 N-acetyltransferase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:732527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11860682 NAT2 N-acetyltransferase 2 gene DOID:783 end stage renal disease ISO RGD:70492 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver: PMID:20007296|REF_RGD_ID:11533637 11860682 NAT2 N-acetyltransferase 2 gene DOID:850 lung disease ISO RGD:732527 D RGD:9068941 20200609 RGD PMID:8961976|REF_RGD_ID:1581053 11860682 NAT2 N-acetyltransferase 2 gene DOID:8893 psoriasis susceptibility ISO RGD:732527 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:19334527|REF_RGD_ID:8552687 11860682 NAT2 N-acetyltransferase 2 gene DOID:9000011 Gallbladder Neoplasms susceptibility ISO RGD:732527 D RGD:9068941 20200609 RGD DNA:SNP: :rs1495741(human) PMID:20972438|REF_RGD_ID:11056814 11860682 NAT2 N-acetyltransferase 2 gene DOID:9000307 Presbycusis susceptibility ISO RGD:732527 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:16369173|REF_RGD_ID:8552649 11860682 NAT2 N-acetyltransferase 2 gene DOID:9001142 Drug-Induced Agranulocytosis ISO RGD:732527 D RGD:9068941 20200609 RGD associated with Inflammation; PMID:10739170|REF_RGD_ID:11532771 11860682 NAT2 N-acetyltransferase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:732527 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:10591543|REF_RGD_ID:2311598 11860682 NAT2 N-acetyltransferase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12618593|PMID:12622714|PMID:15717312|PMID:16083506 11860682 NAT2 N-acetyltransferase 2 gene DOID:9006779 Discoid Lupus Erythematosus treatment ISO RGD:732527 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:9170150|REF_RGD_ID:8552671 11860682 NAT2 N-acetyltransferase 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:732527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17377643|PMID:17502830 11860682 NAT2 N-acetyltransferase 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions susceptibility ISO RGD:732527 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:12786839|REF_RGD_ID:8552667 11860682 NAT2 N-acetyltransferase 2 gene DOID:9007188 Liver Neoplasms ISO RGD:732527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19666988 11860682 NAT2 N-acetyltransferase 2 gene DOID:9007364 Mouth Neoplasms susceptibility ISO RGD:732527 D RGD:9068941 20200609 RGD DNA:polymorphisms,haplotype:exon: PMID:17290401|REF_RGD_ID:8552678 11860682 NAT2 N-acetyltransferase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11915035|PMID:16799928|PMID:17950035|PMID:25693865 11860682 NAT2 N-acetyltransferase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:732527 D RGD:9068941 20200609 RGD associated with Tuberculosis;DNA:haplotype: : PMID:18023090|REF_RGD_ID:8552665 11860682 NAT2 N-acetyltransferase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19692670 11860682 NAT2 N-acetyltransferase 2 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:732527 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:10599336|REF_RGD_ID:5147680 11860682 NAT2 N-acetyltransferase 2 gene DOID:9119 acute myeloid leukemia no_association ISO RGD:732527 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:11352872|REF_RGD_ID:11532773 11860682 NAT2 N-acetyltransferase 2 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:732527 D RGD:9068941 20200609 RGD DNA:polymorphisms,haplotype: : PMID:21888617|REF_RGD_ID:11532769 11860682 NAT2 N-acetyltransferase 2 gene DOID:9351 diabetes mellitus ISO RGD:732527 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:16397907|REF_RGD_ID:2311597 11860682 NAT2 N-acetyltransferase 2 gene DOID:9655 oral mucosa leukoplakia susceptibility ISO RGD:732527 D RGD:9068941 20200609 RGD DNA:polymorphisms,haplotype:exon: PMID:17290401|REF_RGD_ID:8552678 11860682 NAT2 N-acetyltransferase 2 gene DOID:9669 senile cataract ISO RGD:732527 D RGD:9068941 20200609 RGD PMID:16251120|REF_RGD_ID:8552653 11860682 NAT2 N-acetyltransferase 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:732527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22200898 11860682 NAT2 N-acetyltransferase 2 gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:732527 D RGD:9068941 20200609 RGD PMID:22215203|REF_RGD_ID:11353805 11860682 NAT2 N-acetyltransferase 2 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:732527 D RGD:9068941 20200609 RGD DNA:polymorphisms,haplotype: : PMID:21888617|REF_RGD_ID:11532769 11860682 NAT2 N-acetyltransferase 2 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:732527 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:25804798|REF_RGD_ID:11532767 11860688 PPP1R3F protein phosphatase 1 regulatory subunit 3F gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11860688 PPP1R3F protein phosphatase 1 regulatory subunit 3F gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1353330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 11860688 PPP1R3F protein phosphatase 1 regulatory subunit 3F gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1353330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11860688 PPP1R3F protein phosphatase 1 regulatory subunit 3F gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1353330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11860688 PPP1R3F protein phosphatase 1 regulatory subunit 3F gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1353330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11860688 PPP1R3F protein phosphatase 1 regulatory subunit 3F gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1353330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 11860688 PPP1R3F protein phosphatase 1 regulatory subunit 3F gene DOID:12849 autistic disorder ISO RGD:1353330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11860688 PPP1R3F protein phosphatase 1 regulatory subunit 3F gene DOID:630 genetic disease ISO RGD:1353330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11860698 HOXD10 homeobox D10 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1315169 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11860698 HOXD10 homeobox D10 gene DOID:0111568 congenital vertical talus ISO RGD:1315169 D RGD:7240710 20180130 OMIM 11860698 HOXD10 homeobox D10 gene DOID:0111568 congenital vertical talus ISO RGD:1315169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital vertical talus PMID:15146389|PMID:16450407|PMID:25741868 11860698 HOXD10 homeobox D10 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1315169 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15146389 11860698 HOXD10 homeobox D10 gene DOID:3068 glioblastoma ISO RGD:1315169 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:34737577 11860698 HOXD10 homeobox D10 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1315169 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22227861 11860698 HOXD10 homeobox D10 gene DOID:630 genetic disease ISO RGD:1315169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11860698 HOXD10 homeobox D10 gene DOID:7148 rheumatoid arthritis ISO RGD:1315169 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 11860698 HOXD10 homeobox D10 gene DOID:9000918 Disease Progression ISO RGD:1315169 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:34737577 11860698 HOXD10 homeobox D10 gene DOID:9004998 Kyphoscoliosis ISO RGD:1306511 D RGD:9068941 20200609 RGD mRNA:decreased expression:verterbra PMID:18327665|REF_RGD_ID:11354896 11860698 HOXD10 homeobox D10 gene DOID:9007364 Mouth Neoplasms ISO RGD:1315169 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22227861 11860698 HOXD10 homeobox D10 gene DOID:9007573 Flatfoot ISO RGD:1315169 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15146389|PMID:16450407|PMID:24239177 11860698 HOXD10 homeobox D10 gene DOID:9007794 Lower Extremity Deformities, Congenital ISO RGD:1315169 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9409668 11860704 TALDO1 transaldolase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11860704 TALDO1 transaldolase 1 gene DOID:0050729 neutral lipid storage disease ISO RGD:733188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 11860704 TALDO1 transaldolase 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:733188 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11860704 TALDO1 transaldolase 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:733188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11860704 TALDO1 transaldolase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11860704 TALDO1 transaldolase 1 gene DOID:14330 Parkinson's disease ISO RGD:733188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23233872 11860704 TALDO1 transaldolase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:733188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11860704 TALDO1 transaldolase 1 gene DOID:2978 carbohydrate metabolic disorder ISO RGD:733188 D RGD:9068941 20200609 RGD Transaldolase deficiency, OMIM:606003 PMID:11283793|REF_RGD_ID:1599293 11860704 TALDO1 transaldolase 1 gene DOID:630 genetic disease ISO RGD:733188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11860704 TALDO1 transaldolase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19436114 11860704 TALDO1 transaldolase 1 gene DOID:83 cataract ISO RGD:733188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract PMID:25741868|PMID:28492532 11860704 TALDO1 transaldolase 1 gene DOID:9000356 Transaldolase Deficiency ISO RGD:733188 D RGD:7240710 20180130 OMIM 11860704 TALDO1 transaldolase 1 gene DOID:9000356 Transaldolase Deficiency ISO RGD:733188 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: EYAID SYNDROME PMID:10869557|PMID:11283793|PMID:15877206|PMID:18331807|PMID:23315216|PMID:24033266|PMID:24497183|PMID:25326635|PMID:25388407|PMID:25741868|PMID:26238251|PMID:28492532|PMID:28776642|PMID:29292491|PMID:29923087|PMID:31769880 11860704 TALDO1 transaldolase 1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:733188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11860704 TALDO1 transaldolase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19436114 11860737 SMIM10L2A small integral membrane protein 10 like 2A gene DOID:12849 autistic disorder ISO RGD:1605492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11860779 HCFC1 host cell factor C1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1345622 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11860779 HCFC1 host cell factor C1 gene DOID:0050476 Barth syndrome ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11860779 HCFC1 host cell factor C1 gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:1345622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase PMID:24011988|PMID:25167861|PMID:25281006|PMID:25741868|PMID:26893841|PMID:27403441|PMID:28492532 11860779 HCFC1 host cell factor C1 gene DOID:0050800 creatine transporter deficiency ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 11860779 HCFC1 host cell factor C1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 11860779 HCFC1 host cell factor C1 gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 11860779 HCFC1 host cell factor C1 gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 11860779 HCFC1 host cell factor C1 gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 11860779 HCFC1 host cell factor C1 gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1345622 D RGD:7240710 20180130 OMIM 11860779 HCFC1 host cell factor C1 gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:17576681|PMID:18414213|PMID:1870093|PMID:23000143|PMID:23539139|PMID:24011988|PMID:25167861|PMID:25281006|PMID:25740848|PMID:25741868|PMID:26893841|PMID:27403441|PMID:28363510|PMID:28449119|PMID:28492532|PMID:28554332|PMID:35013307|PMID:9536098 11860779 HCFC1 host cell factor C1 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1345622 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 11860779 HCFC1 host cell factor C1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1345622 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11860779 HCFC1 host cell factor C1 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1345622 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:25741868 11860779 HCFC1 host cell factor C1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11860779 HCFC1 host cell factor C1 gene DOID:1059 intellectual disability ISO RGD:1345622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:24011988|PMID:25167861|PMID:25281006|PMID:25741868|PMID:26893841|PMID:27403441|PMID:28492532 11860779 HCFC1 host cell factor C1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11860779 HCFC1 host cell factor C1 gene DOID:12849 autistic disorder ISO RGD:1345622 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Mental retardation, X-linked PMID:21681106|PMID:23000143|PMID:25740848|PMID:25741868|PMID:30208311 11860779 HCFC1 host cell factor C1 gene DOID:13628 favism ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11860779 HCFC1 host cell factor C1 gene DOID:2729 dyskeratosis congenita ISO RGD:1345622 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11860779 HCFC1 host cell factor C1 gene DOID:607 paraplegia ISO RGD:1345622 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11860779 HCFC1 host cell factor C1 gene DOID:630 genetic disease ISO RGD:1345622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23539139|PMID:24011988|PMID:25740848|PMID:25741868|PMID:28492532|PMID:28554332 11860779 HCFC1 host cell factor C1 gene DOID:655 inherited metabolic disorder ISO RGD:1345622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:24011988|PMID:25167861|PMID:25281006|PMID:25741868|PMID:26893841|PMID:27403441|PMID:28363510|PMID:28449119|PMID:28492532|PMID:35013307 11860779 HCFC1 host cell factor C1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1345622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:29255178 11860779 HCFC1 host cell factor C1 gene DOID:9002720 Splenomegaly ISO RGD:1345622 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11860779 HCFC1 host cell factor C1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 11860779 HCFC1 host cell factor C1 gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:15689435|PMID:16080119|PMID:28492532 11860779 HCFC1 host cell factor C1 gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 11860779 HCFC1 host cell factor C1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1345622 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Mental retardation, X-linked PMID:23000143|PMID:25740848|PMID:25741868 11860779 HCFC1 host cell factor C1 gene DOID:9007188 Liver Neoplasms ISO RGD:1345622 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19255062 11860824 ANGPTL5 angiopoietin like 5 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1351491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 11860824 ANGPTL5 angiopoietin like 5 gene DOID:1059 intellectual disability ISO RGD:1351491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11860824 ANGPTL5 angiopoietin like 5 gene DOID:12704 ataxia telangiectasia ISO RGD:1351491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11860824 ANGPTL5 angiopoietin like 5 gene DOID:630 genetic disease ISO RGD:1351491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11860834 DCUN1D4 defective in cullin neddylation 1 domain containing 4 gene DOID:630 genetic disease ISO RGD:1604387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11860849 RBM6 RNA binding motif protein 6 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1342651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 11860849 RBM6 RNA binding motif protein 6 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1342651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 11860849 RBM6 RNA binding motif protein 6 gene DOID:630 genetic disease ISO RGD:1342651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11860849 RBM6 RNA binding motif protein 6 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1342651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11860849 RBM6 RNA binding motif protein 6 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1342651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11860878 LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11860878 LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1606308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 11860878 LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11860878 LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11860878 LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11860878 LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1606308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11860878 LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:5812 MHC class II deficiency ISO RGD:1606308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11860878 LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:630 genetic disease ISO RGD:1606308 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11860878 LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:9003777 Immunodeficiency due to Defect in MAPBP-Interacting Protein ISO RGD:1606308 D RGD:7240710 20180130 OMIM 11860878 LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:9003777 Immunodeficiency due to Defect in MAPBP-Interacting Protein ISO RGD:1606308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency due to defect in mapbp-interacting protein PMID:17195838|PMID:22968171|PMID:25741868|PMID:28492532 11860878 LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11860893 PTPRK protein tyrosine phosphatase receptor type K gene DOID:1909 melanoma ISO RGD:1354114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842|PMID:22842228 11860893 PTPRK protein tyrosine phosphatase receptor type K gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1354114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11860893 PTPRK protein tyrosine phosphatase receptor type K gene DOID:630 genetic disease ISO RGD:1354114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11860893 PTPRK protein tyrosine phosphatase receptor type K gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11860947 TNFRSF6B TNF receptor superfamily member 6b gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1353622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 11860947 TNFRSF6B TNF receptor superfamily member 6b gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1353622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 11860947 TNFRSF6B TNF receptor superfamily member 6b gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1353622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:23453664|PMID:23729807|PMID:23959892|PMID:24009516|PMID:24033266|PMID:25047097|PMID:25099625|PMID:25607374|PMID:25620558|PMID:26025130|PMID:28492532 11860947 TNFRSF6B TNF receptor superfamily member 6b gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1353622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11860947 TNFRSF6B TNF receptor superfamily member 6b gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1353622 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 11860947 TNFRSF6B TNF receptor superfamily member 6b gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1353622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 11860947 TNFRSF6B TNF receptor superfamily member 6b gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1353622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 11860947 TNFRSF6B TNF receptor superfamily member 6b gene DOID:2843 long QT syndrome ISO RGD:1353622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555|PMID:28492532 11860947 TNFRSF6B TNF receptor superfamily member 6b gene DOID:630 genetic disease ISO RGD:1353622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11860967 LOC100967321 zinc finger protein 417 gene DOID:630 genetic disease ISO RGD:1606076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11860975 LOC100967916 CD302 antigen gene DOID:12849 autistic disorder ISO RGD:1343680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 11860975 LOC100967916 CD302 antigen gene DOID:630 genetic disease ISO RGD:1343680 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861014 SCTR secretin receptor gene DOID:630 genetic disease ISO RGD:736213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861014 SCTR secretin receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:736213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 11861031 FOXF2 forkhead box F2 gene DOID:630 genetic disease ISO RGD:1352114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861031 FOXF2 forkhead box F2 gene DOID:9007096 Stroke ISO RGD:1352114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 11861059 SH3D21 SH3 domain containing 21 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11861059 SH3D21 SH3 domain containing 21 gene DOID:630 genetic disease ISO RGD:1605948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861085 ANP32A acidic nuclear phosphoprotein 32 family member A gene DOID:2717 Bloom syndrome ISO RGD:1606331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11861085 ANP32A acidic nuclear phosphoprotein 32 family member A gene DOID:3910 lung adenocarcinoma ISO RGD:1606331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11861085 ANP32A acidic nuclear phosphoprotein 32 family member A gene DOID:9000998 Brain Injuries ISO RGD:11508551 D RGD:9068941 20200609 RGD PMID:24385964|REF_RGD_ID:10401136 11861085 ANP32A acidic nuclear phosphoprotein 32 family member A gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:1606331 D RGD:9068941 20200609 RGD PMID:19054144|REF_RGD_ID:10401133 11861085 ANP32A acidic nuclear phosphoprotein 32 family member A gene DOID:9004590 Acute Liver Failure ISO RGD:1606331 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 11861085 ANP32A acidic nuclear phosphoprotein 32 family member A gene DOID:9006205 Animal Disease Models ISO RGD:1606331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11861085 ANP32A acidic nuclear phosphoprotein 32 family member A gene DOID:9008443 Colorectal Neoplasms ISO RGD:1606331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 11861085 ANP32A acidic nuclear phosphoprotein 32 family member A gene DOID:9256 colorectal cancer ISO RGD:1606331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11861098 LOC100973137 olfactory receptor 5AS1 gene DOID:1059 intellectual disability ISO RGD:1343270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11861098 LOC100973137 olfactory receptor 5AS1 gene DOID:630 genetic disease ISO RGD:1343270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861100 BLCAP BLCAP apoptosis inducing factor gene DOID:2234 focal epilepsy ISO RGD:1347383 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11861100 BLCAP BLCAP apoptosis inducing factor gene DOID:630 genetic disease ISO RGD:1347383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861100 BLCAP BLCAP apoptosis inducing factor gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1347383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 11861109 CREB3L3 cAMP responsive element binding protein 3 like 3 gene DOID:13938 amenorrhea ISO RGD:1317760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11861109 CREB3L3 cAMP responsive element binding protein 3 like 3 gene DOID:630 genetic disease ISO RGD:1317760 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21666694|PMID:28106320|PMID:28492532 11861109 CREB3L3 cAMP responsive element binding protein 3 like 3 gene DOID:9000810 HYPERTRIGLYCERIDEMIA 1 ISO RGD:1317760 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia, familial PMID:21666694|PMID:25741868|PMID:28492532|PMID:31619059|PMID:32041611 11861109 CREB3L3 cAMP responsive element binding protein 3 like 3 gene DOID:9003618 HYPERTRIGLYCERIDEMIA 2 ISO RGD:1317760 D RGD:7240710 20210818 OMIM 11861109 CREB3L3 cAMP responsive element binding protein 3 like 3 gene DOID:9003618 HYPERTRIGLYCERIDEMIA 2 ISO RGD:1317760 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: HYPERTRIGLYCERIDEMIA 2 PMID:21666694|PMID:25741868|PMID:26427795|PMID:28492532 11861121 HTR6 5-hydroxytryptamine receptor 6 gene DOID:0060369 Parkinson's disease 6 ISO RGD:733226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11861121 HTR6 5-hydroxytryptamine receptor 6 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:733226 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11861121 HTR6 5-hydroxytryptamine receptor 6 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:733226 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11861121 HTR6 5-hydroxytryptamine receptor 6 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:733226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11861121 HTR6 5-hydroxytryptamine receptor 6 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:733226 D RGD:9068941 20200806 RGD DNA:silent mutation:cds: 267C>T (human) PMID:10624811|REF_RGD_ID:1358662 11861121 HTR6 5-hydroxytryptamine receptor 6 gene DOID:5419 schizophrenia ISO RGD:733226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12165372 11861121 HTR6 5-hydroxytryptamine receptor 6 gene DOID:630 genetic disease ISO RGD:733226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861121 HTR6 5-hydroxytryptamine receptor 6 gene DOID:670 amphetamine abuse ISO RGD:733226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20705401 11861121 HTR6 5-hydroxytryptamine receptor 6 gene DOID:8646 substance-induced psychosis ISO RGD:733226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20705401 11861121 HTR6 5-hydroxytryptamine receptor 6 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:733226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11861121 HTR6 5-hydroxytryptamine receptor 6 gene DOID:9008023 Memory Disorders ISO RGD:733226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19733250 11861128 PDIK1L PDLIM1 interacting kinase 1 like gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1352576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 11861128 PDIK1L PDLIM1 interacting kinase 1 like gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1352576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 11861128 PDIK1L PDLIM1 interacting kinase 1 like gene DOID:630 genetic disease ISO RGD:1352576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861142 ZBTB4 zinc finger and BTB domain containing 4 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1316223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11861142 ZBTB4 zinc finger and BTB domain containing 4 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1316223 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11861142 ZBTB4 zinc finger and BTB domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1316223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11861142 ZBTB4 zinc finger and BTB domain containing 4 gene DOID:12177 common variable immunodeficiency ISO RGD:1316223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11861142 ZBTB4 zinc finger and BTB domain containing 4 gene DOID:2729 dyskeratosis congenita ISO RGD:1316223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11861142 ZBTB4 zinc finger and BTB domain containing 4 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1316223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11861142 ZBTB4 zinc finger and BTB domain containing 4 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1316223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 11861142 ZBTB4 zinc finger and BTB domain containing 4 gene DOID:630 genetic disease ISO RGD:1316223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861142 ZBTB4 zinc finger and BTB domain containing 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11861165 IFI30 IFI30 lysosomal thiol reductase gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1321848 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 11861165 IFI30 IFI30 lysosomal thiol reductase gene DOID:3042 allergic contact dermatitis ISO RGD:1321848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17597826 11861165 IFI30 IFI30 lysosomal thiol reductase gene DOID:630 genetic disease ISO RGD:1321848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861165 IFI30 IFI30 lysosomal thiol reductase gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1321848 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11861165 IFI30 IFI30 lysosomal thiol reductase gene DOID:9119 acute myeloid leukemia ISO RGD:1321848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11861177 ATP5F1E ATP synthase F1 subunit epsilon gene DOID:0060332 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 ISO RGD:1346801 D RGD:7240710 20180130 OMIM 11861177 ATP5F1E ATP synthase F1 subunit epsilon gene DOID:0060332 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 ISO RGD:1346801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 3 PMID:20566710 11861177 ATP5F1E ATP synthase F1 subunit epsilon gene DOID:9000392 Fluoride Poisoning ISO RGD:621374 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart, mitochondrion (rat) PMID:21251948|REF_RGD_ID:5131501 11861184 LOC100981216 olfactory receptor 6K2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1352681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11861184 LOC100981216 olfactory receptor 6K2 gene DOID:10283 prostate cancer ISO RGD:1352681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11861184 LOC100981216 olfactory receptor 6K2 gene DOID:1540 parathyroid carcinoma ISO RGD:1352681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11861184 LOC100981216 olfactory receptor 6K2 gene DOID:630 genetic disease ISO RGD:1352681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861184 LOC100981216 olfactory receptor 6K2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11861189 ATPSCKMT ATP synthase c subunit lysine N-methyltransferase gene DOID:630 genetic disease ISO RGD:1603183 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861246 NEMF nuclear export mediator factor gene DOID:0060041 autism spectrum disorder ISO RGD:1317135 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 11861246 NEMF nuclear export mediator factor gene DOID:440 neuromuscular disease ISO RGD:1317136 D RGD:9068941 20220825 MouseDO 11861246 NEMF nuclear export mediator factor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1317135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11861246 NEMF nuclear export mediator factor gene DOID:630 genetic disease ISO RGD:1317135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861246 NEMF nuclear export mediator factor gene DOID:870 neuropathy ISO RGD:1317136 D RGD:9068941 20220825 MouseDO 11861246 NEMF nuclear export mediator factor gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1317135 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11861246 NEMF nuclear export mediator factor gene DOID:9004881 Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy ISO RGD:1317135 D RGD:7240710 20201202 OMIM 11861246 NEMF nuclear export mediator factor gene DOID:9004881 Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy ISO RGD:1317135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay and axonal peripheral neuropathy PMID:25741868|PMID:27431290|PMID:33004807|PMID:33048237 11861284 PATL2 PAT1 homolog 2 gene DOID:0050712 AGAT deficiency ISO RGD:2303478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 11861284 PATL2 PAT1 homolog 2 gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:2303478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 PMID:19105190|PMID:20110243|PMID:22154821|PMID:26556829|PMID:28492532 11861284 PATL2 PAT1 homolog 2 gene DOID:1100 ovarian disease ISO RGD:1317343 D RGD:9068941 20220825 MouseDO 11861284 PATL2 PAT1 homolog 2 gene DOID:2717 Bloom syndrome ISO RGD:2303478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11861284 PATL2 PAT1 homolog 2 gene DOID:630 genetic disease ISO RGD:2303478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861284 PATL2 PAT1 homolog 2 gene DOID:9000602 Oocyte Maturation Defect 4 ISO RGD:2303478 D RGD:7240710 20190315 OMIM 11861284 PATL2 PAT1 homolog 2 gene DOID:9000602 Oocyte Maturation Defect 4 ISO RGD:2303478 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 4 PMID:24033266|PMID:25741868|PMID:28965844|PMID:28965849|PMID:29661911|PMID:32552793|PMID:35091966 11861284 PATL2 PAT1 homolog 2 gene DOID:9008845 Oocyte Maturation Defect 2 ISO RGD:2303478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 2 PMID:24033266|PMID:25741868|PMID:28965844|PMID:29661911|PMID:32552793 11861284 PATL2 PAT1 homolog 2 gene DOID:9256 colorectal cancer ISO RGD:2303478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11861305 NXNL1 nucleoredoxin like 1 gene DOID:630 genetic disease ISO RGD:1350601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861331 NGEF neuronal guanine nucleotide exchange factor gene DOID:0060476 Perlman syndrome ISO RGD:1319181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11861331 NGEF neuronal guanine nucleotide exchange factor gene DOID:0110991 Joubert syndrome 22 ISO RGD:1319181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11861331 NGEF neuronal guanine nucleotide exchange factor gene DOID:630 genetic disease ISO RGD:1319181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861356 DDX18 DEAD-box helicase 18 gene DOID:630 genetic disease ISO RGD:1348568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861412 ASPDH aspartate dehydrogenase domain containing gene DOID:630 genetic disease ISO RGD:1605752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861427 HOMER2 homer scaffold protein 2 gene DOID:0110589 autosomal dominant nonsyndromic deafness 68 ISO RGD:1354175 D RGD:7240710 20180130 OMIM 11861427 HOMER2 homer scaffold protein 2 gene DOID:0110589 autosomal dominant nonsyndromic deafness 68 ISO RGD:1354175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 68 PMID:25741868|PMID:25816005|PMID:30047143 11861427 HOMER2 homer scaffold protein 2 gene DOID:13938 amenorrhea ISO RGD:1354175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11861427 HOMER2 homer scaffold protein 2 gene DOID:2717 Bloom syndrome ISO RGD:1354175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11861427 HOMER2 homer scaffold protein 2 gene DOID:630 genetic disease ISO RGD:1354175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11861427 HOMER2 homer scaffold protein 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1354175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15545022 11861427 HOMER2 homer scaffold protein 2 gene DOID:9256 colorectal cancer ISO RGD:1354175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11861462 DAPL1 death associated protein like 1 gene DOID:630 genetic disease ISO RGD:1603932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861474 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:0111681 glutamate-cysteine ligase deficiency ISO RGD:736793 D RGD:7240710 20230505 OMIM 11861474 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:0111681 glutamate-cysteine ligase deficiency ISO RGD:736793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gamma-glutamylcysteine synthetase deficiency PMID:10515893|PMID:25741868|PMID:28492532 11861474 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:10629 microphthalmia ISO RGD:736793 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:35123994 11861474 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:10763 hypertension ISO RGD:736793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 11861474 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:1485 cystic fibrosis ISO RGD:736793 D RGD:9068941 20200609 RGD PMID:16690975|REF_RGD_ID:5134682 11861474 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:2773 contact dermatitis ISO RGD:736793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11861474 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:3908 lung non-small cell carcinoma ISO RGD:736793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 11861474 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:5082 liver cirrhosis ISO RGD:619868 D RGD:9068941 20200609 RGD PMID:22942279|REF_RGD_ID:11049542 11861474 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:583 hemolytic anemia ISO RGD:736793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10515893 11861474 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:583 hemolytic anemia ISO RGD:736793 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: 473C>T (p.158L)(human) PMID:10733484|REF_RGD_ID:11049537 11861474 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:5844 myocardial infarction ISO RGD:736793 D RGD:7240710 20230505 OMIM 11861474 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:5844 myocardial infarction ISO RGD:736793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:12598062 11861474 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:630 genetic disease ISO RGD:736793 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11861474 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:83 cataract ISO RGD:10652 D RGD:9068941 20220825 MouseDO OMIM:601371 11861474 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:9000018 Coronary Vessel Anomalies ISO RGD:736793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12598062 11861474 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:9005172 Lung Neoplasms ISO RGD:736793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 11861474 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:9007102 Myocardial Ischemia ISO RGD:736793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11861474 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:619868 D RGD:9068941 20200609 RGD PMID:17573345|REF_RGD_ID:10402383 11861474 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19481141 11861474 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:736793 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30940545 11861474 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:9008691 Liver Injury treatment ISO RGD:619868 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver: PMID:24944771|REF_RGD_ID:10402380 11861474 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:9008945 Gram-Negative Bacterial Infections susceptibility ISO RGD:736793 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:SNP,haplotype:promoter:-129C >T,-3506A >G (human) PMID:24593045|REF_RGD_ID:10401929 11861474 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:9252 amino acid metabolic disorder ISO RGD:736793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10515893 11861474 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:736793 D RGD:9068941 20200609 RGD mRNA:increased expression:colon: PMID:8705999|REF_RGD_ID:11049536 11861474 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:9352 type 2 diabetes mellitus ISO RGD:736793 D RGD:9068941 20200910 CTD CTD Direct Evidence: therapeutic PMID:32715377 11861474 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:9675 pulmonary emphysema ISO RGD:619868 D RGD:9068941 20200609 RGD PMID:19879314|REF_RGD_ID:5134681 11861501 LINC02907 long intergenic non-protein coding RNA 2907 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1343208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 11861501 LINC02907 long intergenic non-protein coding RNA 2907 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1343208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11861501 LINC02907 long intergenic non-protein coding RNA 2907 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1343208 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11861501 LINC02907 long intergenic non-protein coding RNA 2907 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1343208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11861501 LINC02907 long intergenic non-protein coding RNA 2907 gene DOID:0081097 Rafiq syndrome ISO RGD:1343208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11861501 LINC02907 long intergenic non-protein coding RNA 2907 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1343208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 11861501 LINC02907 long intergenic non-protein coding RNA 2907 gene DOID:3652 Leigh disease ISO RGD:1343208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11861501 LINC02907 long intergenic non-protein coding RNA 2907 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1343208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:28492532|PMID:29907982 11861530 ZNF34 zinc finger protein 34 gene DOID:630 genetic disease ISO RGD:1343773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861585 IPO4 importin 4 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1313095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11861585 IPO4 importin 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1313095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11861585 IPO4 importin 4 gene DOID:630 genetic disease ISO RGD:1313095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861585 IPO4 importin 4 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1313095 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11861585 IPO4 importin 4 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1313095 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11861585 IPO4 importin 4 gene DOID:9006205 Animal Disease Models ISO RGD:1313095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11861626 EEF1AKMT1 EEF1A lysine methyltransferase 1 gene DOID:0110253 cataract 14 multiple types ISO RGD:1606676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types PMID:28492532 11861626 EEF1AKMT1 EEF1A lysine methyltransferase 1 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1606676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:28492532 11861626 EEF1AKMT1 EEF1A lysine methyltransferase 1 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1606676 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:28492532 11861626 EEF1AKMT1 EEF1A lysine methyltransferase 1 gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:1606676 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:28492532 11861626 EEF1AKMT1 EEF1A lysine methyltransferase 1 gene DOID:14693 Clouston syndrome ISO RGD:1606676 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia PMID:28492532 11861626 EEF1AKMT1 EEF1A lysine methyltransferase 1 gene DOID:2121 ectodermal dysplasia ISO RGD:1606676 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 11861626 EEF1AKMT1 EEF1A lysine methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1606676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861635 MPZ myelin protein zero gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:737128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1 PMID:10071056|PMID:10084540|PMID:10093067|PMID:10214757|PMID:10329755|PMID:10399750|PMID:10406984|PMID:10463363|PMID:10475757|PMID:1053307|PMID:10533074|PMID:10545037|PMID:10553995|PMID:10581375|PMID:10737979|PMID:10764043|PMID:10835936|PMID:10885340|PMID:10923043|PMID:10965800|PMID:11080236|PMID:11080237|PMID:11160475|PMID:11182278|PMID:11437164|PMID:11438991|PMID:11445635|PMID:11484669|PMID:11545686|PMID:11673479|PMID:11801400|PMID:11835375|PMID:11935267|PMID:12090401|PMID:12207153|PMID:12207932|PMID:12221176|PMID:12242557|PMID:12402337|PMID:12477701|PMID:12497641|PMID:12707985|PMID:12805115|PMID:12807974|PMID:12845552|PMID:12911457|PMID:12940837|PMID:12948789|PMID:12953275|PMID:14638973|PMID:14711881|PMID:14742601|PMID:14871447|PMID:15004559|PMID:15036333|PMID:15050444|PMID:15094849|PMID:15159512|PMID:15170620|PMID:15241803|PMID:15249646|PMID:15326256|PMID:15377707|PMID:15642860|PMID:15716547|PMID:15729519|PMID:16198109|PMID:16199547|PMID:16279991|PMID:16488608|PMID:16495463|PMID:16543539|PMID:16616845|PMID:16616847|PMID:16775239|PMID:16844954|PMID:16987171|PMID:17143884|PMID:17172621|PMID:17294201|PMID:17297707|PMID:17468193|PMID:17576681|PMID:17602703|PMID:17663472|PMID:17915947|PMID:17940173|PMID:18255032|PMID:18337304|PMID:18347322|PMID:18380021|PMID:18380030|PMID:18422810|PMID:18636082|PMID:18663734|PMID:19259128|PMID:19293842|PMID:19454582|PMID:19475438|PMID:19629567|PMID:19691535|PMID:19882637|PMID:19928689|PMID:20215982|PMID:20301384|PMID:20385006|PMID:20456450|PMID:20461396|PMID:20516806|PMID:20544920|PMID:20556410|PMID:20571287|PMID:20621479|PMID:20800346|PMID:20878767|PMID:20937820|PMID:21107784|PMID:21149811|PMID:21256749|PMID:21326314|PMID:21363884|PMID:21504504|PMID:21787890|PMID:21840889|PMID:21940171|PMID:22018721|PMID:22176150|PMID:22222859|PMID:22433810|PMID:22451207|PMID:22622165|PMID:22689911|PMID:22704856|PMID:22734905|PMID:23197742|PMID:23250879|PMID:23279346|PMID:23290023|PMID:23342407|PMID:23649551|PMID:24028194|PMID:24033266|PMID:24053775|PMID:24444136|PMID:24819634|PMID:25025039|PMID:25326637|PMID:25429913|PMID:25448007|PMID:25614874|PMID:25694466|PMID:25720167|PMID:25741868|PMID:26135405|PMID:26234237|PMID:26310628|PMID:26378787|PMID:26392352|PMID:26406915|PMID:26454100|PMID:26467025|PMID:27025386|PMID:27088055|PMID:27164712|PMID:27344971|PMID:27353517|PMID:27614573|PMID:27639257|PMID:27774063|PMID:28286897|PMID:28492532|PMID:29136549|PMID:29465609|PMID:29670817|PMID:29687021|PMID:30677751|PMID:30920665|PMID:31173589|PMID:31211173|PMID:31278453|PMID:31315766|PMID:31372974|PMID:31393079|PMID:31673878|PMID:31827005|PMID:31902012|PMID:32376792|PMID:33179255|PMID:33825325|PMID:34008892|PMID:34539730|PMID:3467805|PMID:6099985|PMID:7504284|PMID:7505151|PMID:7506095|PMID:7511317|PMID:7527371|PMID:7530550|PMID:7550231|PMID:7581451|PMID:7688964|PMID:7693129|PMID:7693130|PMID:7694726|PMID:8644725|PMID:8664899|PMID:8797476|PMID:8800924|PMID:8816708|PMID:8835320|PMID:8844219|PMID:8938258|PMID:8990016|PMID:9168174|PMID:9187667|PMID:9217235|PMID:9452091|PMID:9452099|PMID:9536098|PMID:9588852|PMID:9595994|PMID:9633821|PMID:9888385 11861635 MPZ myelin protein zero gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:737128 D RGD:7240710 20180425 OMIM 11861635 MPZ myelin protein zero gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:737128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome | ClinVar Annotator: match by term: Dejerine-Sottas disease | ClinVar Annotator: match by term: Dejerine-Sottas syndrome, autosomal dominant PMID:10084540|PMID:10399750|PMID:11596785|PMID:11835375|PMID:11935267|PMID:12242557|PMID:12402337|PMID:14711881|PMID:16495463|PMID:17143884|PMID:17576681|PMID:18255032|PMID:20385006|PMID:20461396|PMID:20878767|PMID:20937820|PMID:21363884|PMID:21504504|PMID:22734905|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29687021|PMID:33825325|PMID:34539730|PMID:3467805|PMID:6099985|PMID:7506095|PMID:7530550|PMID:7581451|PMID:7693130|PMID:7694726|PMID:8630052|PMID:8664899|PMID:8816708|PMID:8835320|PMID:9452091|PMID:9536098|PMID:9888385 11861635 MPZ myelin protein zero gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 11861635 MPZ myelin protein zero gene DOID:0050771 pheochromocytoma ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 11861635 MPZ myelin protein zero gene DOID:0050773 paraganglioma ISO RGD:737128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:12807974|PMID:17468193|PMID:23342407|PMID:25741868|PMID:28492532 11861635 MPZ myelin protein zero gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:737128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor PMID:12807974|PMID:17468193|PMID:23342407|PMID:25741868|PMID:28492532 11861635 MPZ myelin protein zero gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11861635 MPZ myelin protein zero gene DOID:0090111 PCWH syndrome ISO RGD:10917 D RGD:9068941 20220825 MouseDO OMIM:609136 11861635 MPZ myelin protein zero gene DOID:0110152 Charcot-Marie-Tooth disease type 1B ISO RGD:737128 D RGD:7240710 20180130 OMIM 11861635 MPZ myelin protein zero gene DOID:0110152 Charcot-Marie-Tooth disease type 1B ISO RGD:737128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1b | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1b, with focally folded myelin sheaths | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IB | ClinVar Annotator: match by term: HEREDITARY MOTOR AND SENSORY NEUROPATHY IB PMID:10071056|PMID:10093067|PMID:10214757|PMID:10329755|PMID:10399750|PMID:10475757|PMID:10545037|PMID:10553995|PMID:10581375|PMID:10737979|PMID:10764043|PMID:10835936|PMID:10923043|PMID:10965800|PMID:11080237|PMID:11182278|PMID:11437164|PMID:11438991|PMID:11445635|PMID:11484669|PMID:11545686|PMID:11801400|PMID:11835375|PMID:12090401|PMID:12207153|PMID:12207932|PMID:12221176|PMID:12242557|PMID:12402337|PMID:12477701|PMID:12497641|PMID:12707985|PMID:12805115|PMID:12845552|PMID:12911457|PMID:12940837|PMID:12948789|PMID:12953275|PMID:14638973|PMID:14711881|PMID:15036333|PMID:15050444|PMID:15094849|PMID:15159512|PMID:15170620|PMID:15241803|PMID:15249646|PMID:15377707|PMID:15642860|PMID:16279991|PMID:16488608|PMID:16495463|PMID:16521307|PMID:16543539|PMID:16775239|PMID:17030746|PMID:17143884|PMID:17172621|PMID:17294201|PMID:17915947|PMID:18209201|PMID:18255032|PMID:18337304|PMID:18347322|PMID:18422810|PMID:18636082|PMID:19259128|PMID:19293842|PMID:19475438|PMID:19629567|PMID:19691535|PMID:19882637|PMID:19928689|PMID:20215982|PMID:20301384|PMID:20456450|PMID:20461396|PMID:20556410|PMID:20571287|PMID:20937820|PMID:21107784|PMID:21149811|PMID:21326314|PMID:21787890|PMID:21840889|PMID:22451207|PMID:22689911|PMID:22734905|PMID:23250879|PMID:23290023|PMID:23806086|PMID:24053775|PMID:24088041|PMID:24444136|PMID:25429913|PMID:25614874|PMID:25694466|PMID:25720167|PMID:25741868|PMID:26135405|PMID:26234237|PMID:26257172|PMID:26310628|PMID:26378787|PMID:26392352|PMID:26454100|PMID:26467025|PMID:27088055|PMID:27353517|PMID:27614573|PMID:27639257|PMID:27774063|PMID:28286897|PMID:28492532|PMID:29136549|PMID:29670817|PMID:29687021|PMID:30920665|PMID:31173589|PMID:31211173|PMID:31372974|PMID:31673878|PMID:31827005|PMID:31902012|PMID:32376792|PMID:33179255|PMID:7504284|PMID:7505151|PMID:7506095|PMID:7511317|PMID:7527371|PMID:7550231|PMID:7581451|PMID:7688964|PMID:7693129|PMID:7693130|PMID:7694726|PMID:8310815|PMID:8644725|PMID:8664899|PMID:8797476|PMID:8800924|PMID:8816708|PMID:8835320|PMID:8938258|PMID:8990016|PMID:9168174|PMID:9187667|PMID:9452091|PMID:9452099|PMID:9595994|PMID:9633821|PMID:9888385 11861635 MPZ myelin protein zero gene DOID:0110157 Charcot-Marie-Tooth disease type 2J ISO RGD:737128 D RGD:7240710 20180130 OMIM 11861635 MPZ myelin protein zero gene DOID:0110157 Charcot-Marie-Tooth disease type 2J ISO RGD:737128 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 2, with hearing loss and pupillary abnormalities PMID:10071056|PMID:10329755|PMID:10764043|PMID:10835936|PMID:10923043|PMID:11080237|PMID:11545686|PMID:12207153|PMID:12402337|PMID:12911457|PMID:12948789|PMID:15159512|PMID:15241803|PMID:15326256|PMID:15377707|PMID:16279991|PMID:16775239|PMID:17663472|PMID:18337304|PMID:19629567|PMID:19928689|PMID:20461396|PMID:22433810|PMID:25720167|PMID:25741868|PMID:26234237|PMID:26467025|PMID:28492532|PMID:29465609|PMID:29687021|PMID:31211173|PMID:31827005|PMID:8664899|PMID:9187667|PMID:9452091 11861635 MPZ myelin protein zero gene DOID:0110158 Charcot-Marie-Tooth disease type 2I ISO RGD:737128 D RGD:7240710 20180130 OMIM 11861635 MPZ myelin protein zero gene DOID:0110158 Charcot-Marie-Tooth disease type 2I ISO RGD:737128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2I | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2I PMID:10071056|PMID:10214757|PMID:10329755|PMID:10399750|PMID:10764043|PMID:10835936|PMID:10923043|PMID:11080237|PMID:11545686|PMID:11935267|PMID:12207153|PMID:12242557|PMID:12805115|PMID:12845552|PMID:12911457|PMID:12948789|PMID:14638973|PMID:15159512|PMID:15241803|PMID:15249646|PMID:15377707|PMID:16279991|PMID:16775239|PMID:16987171|PMID:18337304|PMID:19629567|PMID:19928689|PMID:20385006|PMID:20461396|PMID:20556410|PMID:21149811|PMID:22433810|PMID:24053775|PMID:24444136|PMID:25326637|PMID:25720167|PMID:25741868|PMID:26234237|PMID:26310628|PMID:26467025|PMID:27639257|PMID:28286897|PMID:28492532|PMID:29687021|PMID:31211173|PMID:31827005|PMID:31902012|PMID:33179255|PMID:34008892|PMID:3467805|PMID:7506095|PMID:8664899|PMID:9187667|PMID:9452091|PMID:9595994 11861635 MPZ myelin protein zero gene DOID:0110195 Charcot-Marie-Tooth disease type 4E ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypomyelination, severe congenital PMID:10737979|PMID:11545686|PMID:12807974|PMID:12953275|PMID:15094849|PMID:15241803|PMID:17468193|PMID:19454582|PMID:20456450|PMID:23342407|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7527371|PMID:8664899|PMID:9187667 11861635 MPZ myelin protein zero gene DOID:0110200 Charcot-Marie-Tooth disease dominant intermediate D ISO RGD:737128 D RGD:7240710 20180130 OMIM 11861635 MPZ myelin protein zero gene DOID:0110200 Charcot-Marie-Tooth disease dominant intermediate D ISO RGD:737128 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate D PMID:10071056|PMID:10329755|PMID:10406984|PMID:10737979|PMID:10764043|PMID:10835936|PMID:10923043|PMID:11080237|PMID:11545686|PMID:11673479|PMID:11835375|PMID:12207153|PMID:12402337|PMID:12911457|PMID:12948789|PMID:12953275|PMID:14711881|PMID:15094849|PMID:15159512|PMID:15241803|PMID:15377707|PMID:15642860|PMID:16279991|PMID:16775239|PMID:16987171|PMID:18337304|PMID:19629567|PMID:19691535|PMID:19928689|PMID:20456450|PMID:20461396|PMID:20800346|PMID:24028194|PMID:25614874|PMID:25720167|PMID:25741868|PMID:26135405|PMID:26234237|PMID:26310628|PMID:26392352|PMID:26406915|PMID:26467025|PMID:28492532|PMID:29687021|PMID:31173589|PMID:31211173|PMID:31827005|PMID:32376792|PMID:34008892|PMID:7505151|PMID:7527371|PMID:7581451|PMID:8664899|PMID:8816708|PMID:8990016|PMID:9187667|PMID:9452091|PMID:9633821|PMID:9888385 11861635 MPZ myelin protein zero gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:737128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:20571287|PMID:25694466|PMID:28492532|PMID:7693129 11861635 MPZ myelin protein zero gene DOID:0111206 distal hereditary motor neuronopathy type 2 ISO RGD:737128 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 PMID:10071056|PMID:10329755|PMID:10764043|PMID:10835936|PMID:10923043|PMID:11080237|PMID:12207153|PMID:12911457|PMID:12948789|PMID:15159512|PMID:15377707|PMID:16279991|PMID:16775239|PMID:18337304|PMID:19629567|PMID:19928689|PMID:20461396|PMID:25720167|PMID:25741868|PMID:26234237|PMID:26467025|PMID:28492532|PMID:29687021|PMID:31211173|PMID:31827005|PMID:9452091 11861635 MPZ myelin protein zero gene DOID:1059 intellectual disability ISO RGD:737128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:15729519|PMID:20461396|PMID:25614874|PMID:25741868|PMID:28492532|PMID:7688964 11861635 MPZ myelin protein zero gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737128 D RGD:7240710 20180130 OMIM 11861635 MPZ myelin protein zero gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10071056|PMID:10093067|PMID:10214757|PMID:10329755|PMID:10399750|PMID:10406984|PMID:10463363|PMID:10475757|PMID:10533074|PMID:10545037|PMID:10553995|PMID:10581375|PMID:10737979|PMID:10764043|PMID:10835936|PMID:10885340|PMID:10923043|PMID:10965800|PMID:11080236|PMID:11080237|PMID:11085599|PMID:11160475|PMID:11437164|PMID:11484669|PMID:11545686|PMID:11673479|PMID:11701152|PMID:11801400|PMID:11835375|PMID:11935267|PMID:12090401|PMID:12207153|PMID:12207932|PMID:12221176|PMID:12242557|PMID:12402337|PMID:12477701|PMID:12497641|PMID:12707985|PMID:12805115|PMID:12807974|PMID:12845552|PMID:12911457|PMID:12940837|PMID:12948789|PMID:12953275|PMID:14638973|PMID:14711881|PMID:14742601|PMID:14871447|PMID:15004559|PMID:15036333|PMID:15050444|PMID:15094849|PMID:15159512|PMID:15170620|PMID:15241803|PMID:15261887|PMID:15377707|PMID:15642860|PMID:15729519|PMID:16198109|PMID:16279991|PMID:16488608|PMID:16495463|PMID:16521307|PMID:16543539|PMID:16616845|PMID:16616847|PMID:16775239|PMID:16987171|PMID:17030746|PMID:17143884|PMID:17294201|PMID:17297707|PMID:17468193|PMID:17576681|PMID:17663472|PMID:17915947|PMID:17940173|PMID:18209201|PMID:18255032|PMID:18337304|PMID:18347322|PMID:18380018|PMID:18380021|PMID:18380030|PMID:18422810|PMID:18636082|PMID:18663734|PMID:19259128|PMID:19293842|PMID:19454582|PMID:19475438|PMID:19629567|PMID:19691535|PMID:19882637|PMID:19918771|PMID:19928689|PMID:20215982|PMID:20301384|PMID:20385006|PMID:20456450|PMID:20461396|PMID:20516806|PMID:20544920|PMID:20556410|PMID:20571287|PMID:20621479|PMID:20800346|PMID:20937820|PMID:21107784|PMID:21149811|PMID:21256749|PMID:21326314|PMID:21503568|PMID:21840889|PMID:21940171|PMID:22018721|PMID:22176150|PMID:22222859|PMID:22433810|PMID:22451207|PMID:22622165|PMID:22704856|PMID:22734905|PMID:23197742|PMID:23279346|PMID:23290023|PMID:23342407|PMID:23649551|PMID:23806086|PMID:24028194|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24444136|PMID:24819634|PMID:25025039|PMID:25388615|PMID:25429913|PMID:25430934|PMID:25614874|PMID:25694466|PMID:25720167|PMID:25741868|PMID:26135405|PMID:26234237|PMID:26257172|PMID:26310628|PMID:26392352|PMID:26406915|PMID:26454100|PMID:26467025|PMID:27088055|PMID:27527004|PMID:27614573|PMID:27639257|PMID:28286897|PMID:28492532|PMID:29136549|PMID:29465609|PMID:29687021|PMID:30677751|PMID:30920665|PMID:31173589|PMID:31211173|PMID:31278453|PMID:31372974|PMID:31827005|PMID:31902012|PMID:32376792|PMID:33179255|PMID:34008892|PMID:7504284|PMID:7505151|PMID:7506095|PMID:7511317|PMID:7527371|PMID:7530774|PMID:7550231|PMID:7581451|PMID:7688964|PMID:7693129|PMID:7693130|PMID:7694726|PMID:8644725|PMID:8664899|PMID:8797476|PMID:8800924|PMID:8816708|PMID:8835320|PMID:8844219|PMID:8990016|PMID:9187667|PMID:9217235|PMID:9452091|PMID:9452099|PMID:9536098|PMID:9595994|PMID:9633821|PMID:9888385 11861635 MPZ myelin protein zero gene DOID:11446 sciatic neuropathy treatment ISO RGD:3109 D RGD:9068941 20200609 RGD PMID:23545781|REF_RGD_ID:9685778 11861635 MPZ myelin protein zero gene DOID:11720 distal myopathy ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type PMID:10545037|PMID:10581375|PMID:10737979|PMID:11437164|PMID:12221176|PMID:12477701|PMID:19293842|PMID:20215982|PMID:20461396|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29136549|PMID:29687021|PMID:31211173|PMID:31372974|PMID:7688964|PMID:8644725|PMID:8797476 11861635 MPZ myelin protein zero gene DOID:1540 parathyroid carcinoma ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11861635 MPZ myelin protein zero gene DOID:231 motor neuron disease ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Motor neuron disease PMID:25741868 11861635 MPZ myelin protein zero gene DOID:2477 motor peripheral neuropathy ISO RGD:737128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11861635 MPZ myelin protein zero gene DOID:2491 sensory peripheral neuropathy ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensory neuropathy PMID:10545037|PMID:10581375|PMID:10737979|PMID:11437164|PMID:12221176|PMID:12477701|PMID:19293842|PMID:20215982|PMID:20461396|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29136549|PMID:29687021|PMID:31211173|PMID:31372974|PMID:7688964|PMID:8644725|PMID:8797476 11861635 MPZ myelin protein zero gene DOID:574 peripheral nervous system disease ISO RGD:737128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:11545686|PMID:11835375|PMID:12402337|PMID:25741868|PMID:26310628|PMID:28492532|PMID:7505151|PMID:9633821 11861635 MPZ myelin protein zero gene DOID:630 genetic disease ISO RGD:737128 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10071056|PMID:10084540|PMID:10329755|PMID:10545037|PMID:10581375|PMID:10737979|PMID:10764043|PMID:10835936|PMID:10923043|PMID:11080237|PMID:11437164|PMID:11445635|PMID:11545686|PMID:11673479|PMID:12207153|PMID:12207932|PMID:12221176|PMID:12402337|PMID:12477701|PMID:12911457|PMID:12948789|PMID:14638973|PMID:14711881|PMID:14871447|PMID:15004559|PMID:15050444|PMID:15159512|PMID:15170620|PMID:15249646|PMID:15377707|PMID:15642860|PMID:15729519|PMID:16252242|PMID:16279991|PMID:16488608|PMID:16775239|PMID:16844954|PMID:17297707|PMID:17576681|PMID:17602703|PMID:17915947|PMID:18337304|PMID:18380030|PMID:19259128|PMID:19293842|PMID:19629567|PMID:19882637|PMID:19928689|PMID:20215982|PMID:20301384|PMID:20456450|PMID:20461396|PMID:20556410|PMID:21149811|PMID:22222859|PMID:22704856|PMID:25448007|PMID:25614874|PMID:25720167|PMID:25741868|PMID:26135405|PMID:26234237|PMID:26310628|PMID:26392352|PMID:26467025|PMID:27088055|PMID:27614573|PMID:27639257|PMID:28286897|PMID:28492532|PMID:29136549|PMID:29687021|PMID:30920665|PMID:31173589|PMID:31211173|PMID:31372974|PMID:31827005|PMID:31902012|PMID:32376792|PMID:33179255|PMID:33825325|PMID:34060176|PMID:7527371|PMID:7530295|PMID:7688964|PMID:8644725|PMID:8723697|PMID:8797476|PMID:8816708|PMID:9217235|PMID:9452091|PMID:9536098|PMID:9595994|PMID:9888385 11861635 MPZ myelin protein zero gene DOID:870 neuropathy ISO RGD:737128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:11545686|PMID:11835375|PMID:12402337|PMID:25741868|PMID:26310628|PMID:28492532|PMID:7505151|PMID:9633821 11861635 MPZ myelin protein zero gene DOID:9000495 Tremor ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:25741868 11861635 MPZ myelin protein zero gene DOID:9002211 Hyperalgesia ISO RGD:737128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16676325 11861635 MPZ myelin protein zero gene DOID:9002955 Nerve Degeneration ISO RGD:737128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16676325 11861635 MPZ myelin protein zero gene DOID:9003626 Paragangliomas 3 ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: Paragangliomas 3 PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 11861635 MPZ myelin protein zero gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 11861635 MPZ myelin protein zero gene DOID:9004832 Congenital Hypomyelinating Neuropathy 2 ISO RGD:737128 D RGD:7240710 20190315 OMIM 11861635 MPZ myelin protein zero gene DOID:9004832 Congenital Hypomyelinating Neuropathy 2 ISO RGD:737128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neuropathy, congenital hypomyelinating, 2 PMID:10319895|PMID:10737979|PMID:11545686|PMID:12953275|PMID:15094849|PMID:15184631|PMID:15241803|PMID:15642860|PMID:20456450|PMID:25614874|PMID:25741868|PMID:26135405|PMID:26392352|PMID:26467025|PMID:28492532|PMID:32376792|PMID:7527371|PMID:8664899|PMID:8816708|PMID:9187667|PMID:9888385 11861635 MPZ myelin protein zero gene DOID:9005417 Charcot-Marie-Tooth Disease, Dominant Intermediate 3 ISO RGD:737128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate 3 PMID:10737979|PMID:11545686|PMID:12953275|PMID:15094849|PMID:15241803|PMID:15642860|PMID:20456450|PMID:25614874|PMID:25741868|PMID:26135405|PMID:26392352|PMID:26467025|PMID:28492532|PMID:32376792|PMID:7527371|PMID:8664899|PMID:9187667|PMID:9888385 11861635 MPZ myelin protein zero gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:737128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:12807974|PMID:17468193|PMID:23342407|PMID:25741868|PMID:28492532 11861635 MPZ myelin protein zero gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737128 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 11861635 MPZ myelin protein zero gene DOID:9008305 Talipes Cavus ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pes cavus PMID:10545037|PMID:10581375|PMID:10737979|PMID:11437164|PMID:12221176|PMID:12477701|PMID:19293842|PMID:20215982|PMID:20461396|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29136549|PMID:29687021|PMID:31211173|PMID:31372974|PMID:7688964|PMID:8644725|PMID:8797476 11861635 MPZ myelin protein zero gene DOID:913 atrophic muscular disease ISO RGD:737128 D RGD:8554872 20221227 ClinVar ClinVar Annotator: match by term: Distal lower limb amyotrophy PMID:10545037|PMID:10581375|PMID:10737979|PMID:11437164|PMID:12221176|PMID:12477701|PMID:19293842|PMID:20215982|PMID:20461396|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29136549|PMID:29687021|PMID:31211173|PMID:31372974|PMID:7688964|PMID:8644725|PMID:8797476 11861635 MPZ myelin protein zero gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 11861635 MPZ myelin protein zero gene DOID:9277 primary cerebellar degeneration ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorimotor neuropathy PMID:25741868 11861635 MPZ myelin protein zero gene DOID:9743 diabetic neuropathy treatment ISO RGD:3109 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22158827|REF_RGD_ID:9685782 11861651 RADX RPA1 related single stranded DNA binding protein, X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11861651 RADX RPA1 related single stranded DNA binding protein, X-linked gene DOID:12849 autistic disorder ISO RGD:1605981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11861671 XRN1 5'-3' exoribonuclease 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1348971 D RGD:9068941 20200609 RGD DNA:snp:intron:c.1883+365T>C (rs1351965) (human) PMID:22984654|REF_RGD_ID:11528589 11861671 XRN1 5'-3' exoribonuclease 1 gene DOID:630 genetic disease ISO RGD:1348971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861671 XRN1 5'-3' exoribonuclease 1 gene DOID:9008885 Staphylococcal Infections susceptibility ISO RGD:1348971 D RGD:9068941 20200609 RGD DNA:snp:intron:c.2339+1477G>A (rs7643377) (human) PMID:24847357|REF_RGD_ID:11530009 11861720 TIPRL TOR signaling pathway regulator gene DOID:0111942 immunodeficiency 25 ISO RGD:1605834 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 11861720 TIPRL TOR signaling pathway regulator gene DOID:1540 parathyroid carcinoma ISO RGD:1605834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11861720 TIPRL TOR signaling pathway regulator gene DOID:630 genetic disease ISO RGD:1605834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861720 TIPRL TOR signaling pathway regulator gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11861732 VRK3 VRK serine/threonine kinase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1558006 D RGD:9068941 20220825 MouseDO 11861732 VRK3 VRK serine/threonine kinase 3 gene DOID:630 genetic disease ISO RGD:1350616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861757 INHBA inhibin subunit beta A gene DOID:0050827 rheumatic heart disease ISO RGD:62074 D RGD:9068941 20230202 RGD mRNA, protein:increases expression:mitral valve, heart (rat) PMID:33179113|REF_RGD_ID:155882558 11861757 INHBA inhibin subunit beta A gene DOID:10591 pre-eclampsia ISO RGD:732688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17332518 11861757 INHBA inhibin subunit beta A gene DOID:11714 gestational diabetes ISO RGD:732688 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:14663836|REF_RGD_ID:2313391 11861757 INHBA inhibin subunit beta A gene DOID:11714 gestational diabetes ISO RGD:732688 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:7852520|REF_RGD_ID:2313385 11861757 INHBA inhibin subunit beta A gene DOID:127 leiomyoma ISO RGD:732688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228119 11861757 INHBA inhibin subunit beta A gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:732688 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 11861757 INHBA inhibin subunit beta A gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:732688 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:10441570|PMID:15739154|PMID:18000979|PMID:20672375|PMID:24736735|PMID:28492532|PMID:29236091 11861757 INHBA inhibin subunit beta A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11861757 INHBA inhibin subunit beta A gene DOID:5844 myocardial infarction ISO RGD:62074 D RGD:9068941 20230427 RGD mRNA:increased expression:heart (rat) PMID:14993131|REF_RGD_ID:1580888 11861757 INHBA inhibin subunit beta A gene DOID:6000 congestive heart failure severity ISO RGD:732688 D RGD:9068941 20230427 RGD mRNA, protein:increased expression:PBMC, Tcells, serum (human) PMID:14993131|REF_RGD_ID:1580888 11861757 INHBA inhibin subunit beta A gene DOID:630 genetic disease ISO RGD:732688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861757 INHBA inhibin subunit beta A gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:62074 D RGD:9068941 20230427 RGD mRNA:increased expression:brain (rat) PMID:10415398|REF_RGD_ID:329322882 11861757 INHBA inhibin subunit beta A gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:732688 D RGD:9068941 20230427 RGD human construct in rat model PMID:10415398|REF_RGD_ID:329322882 11861757 INHBA inhibin subunit beta A gene DOID:9004265 Endometrioid Carcinomas ISO RGD:732688 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium PMID:16423381|REF_RGD_ID:2301688 11861757 INHBA inhibin subunit beta A gene DOID:9004268 Uterine Neoplasms ISO RGD:732688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228119 11861757 INHBA inhibin subunit beta A gene DOID:9004590 Acute Liver Failure ISO RGD:732688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12560755 11861764 BATF basic leucine zipper ATF-like transcription factor gene DOID:1059 intellectual disability ISO RGD:1312643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11861764 BATF basic leucine zipper ATF-like transcription factor gene DOID:630 genetic disease ISO RGD:1312643 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861771 PSMB4 proteasome 20S subunit beta 4 gene DOID:0050553 JMP syndrome ISO RGD:1344491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:26524591 11861771 PSMB4 proteasome 20S subunit beta 4 gene DOID:0080422 Dravet syndrome ISO RGD:1344491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 11861771 PSMB4 proteasome 20S subunit beta 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1344491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11861771 PSMB4 proteasome 20S subunit beta 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11861771 PSMB4 proteasome 20S subunit beta 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11861771 PSMB4 proteasome 20S subunit beta 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1344491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11861771 PSMB4 proteasome 20S subunit beta 4 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1344491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11861771 PSMB4 proteasome 20S subunit beta 4 gene DOID:5812 MHC class II deficiency ISO RGD:1344491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11861771 PSMB4 proteasome 20S subunit beta 4 gene DOID:630 genetic disease ISO RGD:1344491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11861771 PSMB4 proteasome 20S subunit beta 4 gene DOID:9009202 Proteasome-Associated Autoinflammatory Syndrome 3 ISO RGD:1344491 D RGD:7240710 20190315 OMIM 11861771 PSMB4 proteasome 20S subunit beta 4 gene DOID:9009202 Proteasome-Associated Autoinflammatory Syndrome 3 ISO RGD:1344491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 3 PMID:21953331|PMID:25741868|PMID:26524591|PMID:28492532 11861771 PSMB4 proteasome 20S subunit beta 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11861786 VANGL2 VANGL planar cell polarity protein 2 gene DOID:0080016 spina bifida ISO RGD:1319787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21404367 11861786 VANGL2 VANGL planar cell polarity protein 2 gene DOID:0080074 neural tube defect ISO RGD:1319787 D RGD:7240710 20230505 OMIM 11861786 VANGL2 VANGL planar cell polarity protein 2 gene DOID:0080074 neural tube defect ISO RGD:1319787 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neural tube defect | ClinVar Annotator: match by term: Neural tube defects, susceptibility to PMID:20558380|PMID:25741868 11861786 VANGL2 VANGL planar cell polarity protein 2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1319787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11861786 VANGL2 VANGL planar cell polarity protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1319787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11861786 VANGL2 VANGL planar cell polarity protein 2 gene DOID:630 genetic disease ISO RGD:1319787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861786 VANGL2 VANGL planar cell polarity protein 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:1319787 D RGD:9068941 20200609 RGD mRNA:decreased expression:primary tumor:reduced in 4/14 cases PMID:12011999|REF_RGD_ID:2298799 11861786 VANGL2 VANGL planar cell polarity protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11861814 ITGAL integrin subunit alpha L gene DOID:0050589 inflammatory bowel disease ISO RGD:1352170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28067908 11861814 ITGAL integrin subunit alpha L gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1352170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16764927 11861814 ITGAL integrin subunit alpha L gene DOID:10952 nephritis treatment ISO RGD:631424 D RGD:9068941 20200609 RGD PMID:8773354|REF_RGD_ID:8547716 11861814 ITGAL integrin subunit alpha L gene DOID:13241 Behcet's disease ISO RGD:1352170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8712863 11861814 ITGAL integrin subunit alpha L gene DOID:2661 myoepithelioma ISO RGD:1352170 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11861814 ITGAL integrin subunit alpha L gene DOID:630 genetic disease ISO RGD:1352170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861814 ITGAL integrin subunit alpha L gene DOID:9001472 Nasal Polyps ISO RGD:1352170 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity epithelium PMID:11593541|REF_RGD_ID:8547687 11861814 ITGAL integrin subunit alpha L gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11861814 ITGAL integrin subunit alpha L gene DOID:9005372 Inflammation ISO RGD:1550382 D RGD:9068941 20200609 RGD associated with Sjogren's Syndrome PMID:15037117|REF_RGD_ID:8547696 11861846 ZNF480 zinc finger protein 480 gene DOID:5419 schizophrenia ISO RGD:1348732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 11861846 ZNF480 zinc finger protein 480 gene DOID:630 genetic disease ISO RGD:1348732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861869 MUC6 mucin 6, oligomeric mucus/gel-forming gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1353445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11861869 MUC6 mucin 6, oligomeric mucus/gel-forming gene DOID:0080773 delta beta-thalassemia ISO RGD:1353445 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11861869 MUC6 mucin 6, oligomeric mucus/gel-forming gene DOID:0111969 immunodeficiency 39 ISO RGD:1353445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11861869 MUC6 mucin 6, oligomeric mucus/gel-forming gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1353445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11861869 MUC6 mucin 6, oligomeric mucus/gel-forming gene DOID:10283 prostate cancer ISO RGD:1353445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11861869 MUC6 mucin 6, oligomeric mucus/gel-forming gene DOID:10808 gastric ulcer treatment ISO RGD:628826 D RGD:9068941 20200609 RGD PMID:16240224|REF_RGD_ID:7364759 11861869 MUC6 mucin 6, oligomeric mucus/gel-forming gene DOID:1324 lung cancer ISO RGD:1353445 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 11861869 MUC6 mucin 6, oligomeric mucus/gel-forming gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1353445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11861869 MUC6 mucin 6, oligomeric mucus/gel-forming gene DOID:1485 cystic fibrosis ISO RGD:10331 D RGD:9068941 20200609 RGD PMID:20309575|REF_RGD_ID:7364748 11861869 MUC6 mucin 6, oligomeric mucus/gel-forming gene DOID:1793 pancreatic cancer ISO RGD:1353445 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:10209489|REF_RGD_ID:2325167 11861869 MUC6 mucin 6, oligomeric mucus/gel-forming gene DOID:3030 mucinous adenocarcinoma ISO RGD:1353445 D RGD:9068941 20200609 RGD associated with bile duct neoplasms; protein:increased expression:bile duct PMID:15998373|REF_RGD_ID:2325166 11861869 MUC6 mucin 6, oligomeric mucus/gel-forming gene DOID:4947 cholangiocarcinoma ISO RGD:1353445 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:10209489|REF_RGD_ID:2325167 11861869 MUC6 mucin 6, oligomeric mucus/gel-forming gene DOID:5409 lung small cell carcinoma ISO RGD:1353445 D RGD:8554872 20230117 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 11861869 MUC6 mucin 6, oligomeric mucus/gel-forming gene DOID:9000011 Gallbladder Neoplasms ISO RGD:1353445 D RGD:9068941 20200609 RGD protein:decreased expression:gallbladder PMID:15260848|REF_RGD_ID:2324651 11861869 MUC6 mucin 6, oligomeric mucus/gel-forming gene DOID:9000217 Stomach Neoplasms ISO RGD:1353445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24816253 11861869 MUC6 mucin 6, oligomeric mucus/gel-forming gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1353445 D RGD:9068941 20200609 RGD associated with cholangiocarcinoma PMID:18410610|REF_RGD_ID:2325159 11861869 MUC6 mucin 6, oligomeric mucus/gel-forming gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1353445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11861869 MUC6 mucin 6, oligomeric mucus/gel-forming gene DOID:9008114 Helicobacter Infections ISO RGD:1353445 D RGD:9068941 20200609 RGD protein:increased expression:stomach epithelium PMID:15280409|REF_RGD_ID:7364760 11861909 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1354502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11861909 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:0050729 neutral lipid storage disease ISO RGD:1354502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:16644682|PMID:17187067|PMID:17576681|PMID:20370797|PMID:21170305|PMID:21544567|PMID:22832386|PMID:22990388|PMID:23232698|PMID:25741868|PMID:28391974|PMID:28492532|PMID:28499397|PMID:9536098 11861909 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:0050729 neutral lipid storage disease ISO RGD:1354502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:16199547|PMID:16644682|PMID:17187067|PMID:17576681|PMID:20370797|PMID:21170305|PMID:21544567|PMID:22832386|PMID:22990388|PMID:23232698|PMID:25287355|PMID:25741868|PMID:26922712|PMID:27869069|PMID:28391974|PMID:28492532|PMID:28499397|PMID:32041611|PMID:9536098 11861909 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1354502 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11861909 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:1354502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11861909 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1354502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11861909 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:114 heart disease ISO RGD:1354502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21585347|PMID:23867907 11861909 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1354502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11861909 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:12932 endomyocardial fibrosis ISO RGD:1354502 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35218467 11861909 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1354502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11861909 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:423 myopathy ISO RGD:1354502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy 11861909 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:6000 congestive heart failure ISO RGD:1354502 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35218467 11861909 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:630 genetic disease ISO RGD:1354502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21073837|PMID:21544567|PMID:25363365|PMID:25741868|PMID:28492532 11861909 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1354502 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35218467 11861909 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1354502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11861909 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:9004438 Neutral Lipid Storage Disease with Myopathy ISO RGD:1354502 D RGD:7240710 20180130 OMIM 11861909 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:9004438 Neutral Lipid Storage Disease with Myopathy ISO RGD:1354502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neutral lipid storage disease without ichthyosis PMID:25741868 11861909 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1354502 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35218467 11861920 CIZ1 CDKN1A interacting zinc finger protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1313304 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11861920 CIZ1 CDKN1A interacting zinc finger protein 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1313304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:28492532|PMID:28554332|PMID:34386584 11861920 CIZ1 CDKN1A interacting zinc finger protein 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1313304 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11861920 CIZ1 CDKN1A interacting zinc finger protein 1 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1313304 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 31B, autosomal recessive | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:10608808|PMID:11031245|PMID:11553700|PMID:18469812|PMID:19084268|PMID:20887364|PMID:22722545|PMID:23977156|PMID:25741868|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26611353|PMID:26865513|PMID:28492532|PMID:28554332|PMID:28667181|PMID:29264391|PMID:29668686|PMID:34172529|PMID:34386584|PMID:8335685 11861920 CIZ1 CDKN1A interacting zinc finger protein 1 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1313304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 11861920 CIZ1 CDKN1A interacting zinc finger protein 1 gene DOID:0090040 torsion dystonia 7 ISO RGD:1313304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22447717 11861920 CIZ1 CDKN1A interacting zinc finger protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1313304 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11861920 CIZ1 CDKN1A interacting zinc finger protein 1 gene DOID:3369 Ewing sarcoma ISO RGD:1313304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17508423 11861920 CIZ1 CDKN1A interacting zinc finger protein 1 gene DOID:543 dystonia ISO RGD:1313304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:16199547|PMID:17576681|PMID:22447717|PMID:25778706|PMID:28492532|PMID:9536098 11861920 CIZ1 CDKN1A interacting zinc finger protein 1 gene DOID:630 genetic disease ISO RGD:1313304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10608808|PMID:11031245|PMID:11553700|PMID:19084268|PMID:23781021|PMID:23977156|PMID:25741868|PMID:26467025|PMID:26611353|PMID:28492532|PMID:28667181|PMID:29668686|PMID:8335685 11861920 CIZ1 CDKN1A interacting zinc finger protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 11861951 CCR6 C-C motif chemokine receptor 6 gene DOID:0050073 invasive aspergillosis disease_progression ISO RGD:1318407 D RGD:9068941 20200609 RGD PMID:17379855|REF_RGD_ID:7483617 11861951 CCR6 C-C motif chemokine receptor 6 gene DOID:0050486 exanthem ISO RGD:1318406 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:skin PMID:18384452|REF_RGD_ID:7483602 11861951 CCR6 C-C motif chemokine receptor 6 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1318406 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:skin PMID:22048239|REF_RGD_ID:7483601 11861951 CCR6 C-C motif chemokine receptor 6 gene DOID:0080158 herpes simplex virus keratitis ISO RGD:1318407 D RGD:9068941 20200609 RGD PMID:15287366|REF_RGD_ID:7483593 11861951 CCR6 C-C motif chemokine receptor 6 gene DOID:1205 allergic disease ISO RGD:1318406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11861951 CCR6 C-C motif chemokine receptor 6 gene DOID:12306 vitiligo ISO RGD:1318406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20526340 11861951 CCR6 C-C motif chemokine receptor 6 gene DOID:1564 fungal infectious disease ISO RGD:1318406 D RGD:9068941 20200609 RGD associated with Rhinosinusitis PMID:22287435|REF_RGD_ID:7483612 11861951 CCR6 C-C motif chemokine receptor 6 gene DOID:1612 breast cancer disease_progression ISO RGD:1318406 D RGD:9068941 20200609 RGD PMID:21624121|REF_RGD_ID:7483628 11861951 CCR6 C-C motif chemokine receptor 6 gene DOID:1936 atherosclerosis ISO RGD:1318407 D RGD:9068941 20200609 RGD PMID:24114205|REF_RGD_ID:7483610 11861951 CCR6 C-C motif chemokine receptor 6 gene DOID:224 transient cerebral ischemia ISO RGD:1308562 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:19428685|REF_RGD_ID:7488896 11861951 CCR6 C-C motif chemokine receptor 6 gene DOID:2841 asthma ISO RGD:1318407 D RGD:9068941 20200609 RGD protein:increased expression:lung, dendritic cell (mouse) PMID:19917684|REF_RGD_ID:8549811 11861951 CCR6 C-C motif chemokine receptor 6 gene DOID:2920 membranoproliferative glomerulonephritis treatment ISO RGD:1308562 D RGD:9068941 20200609 RGD PMID:23192593|REF_RGD_ID:7483632 11861951 CCR6 C-C motif chemokine receptor 6 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:1318406 D RGD:9068941 20200609 RGD PMID:23192593|REF_RGD_ID:7483632 11861951 CCR6 C-C motif chemokine receptor 6 gene DOID:418 systemic scleroderma ISO RGD:1318406 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:21742595|REF_RGD_ID:7483587 11861951 CCR6 C-C motif chemokine receptor 6 gene DOID:552 pneumonia ISO RGD:1318406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11861951 CCR6 C-C motif chemokine receptor 6 gene DOID:630 genetic disease ISO RGD:1318406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861951 CCR6 C-C motif chemokine receptor 6 gene DOID:7148 rheumatoid arthritis ISO RGD:1318406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453841|PMID:20453842|PMID:23143596 11861951 CCR6 C-C motif chemokine receptor 6 gene DOID:8577 ulcerative colitis ISO RGD:1318406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16306769 11861951 CCR6 C-C motif chemokine receptor 6 gene DOID:8893 psoriasis ISO RGD:1318406 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:10843722|REF_RGD_ID:7483581 11861951 CCR6 C-C motif chemokine receptor 6 gene DOID:8893 psoriasis ISO RGD:1318407 D RGD:9068941 20200609 RGD PMID:19662682|REF_RGD_ID:7483598 11861951 CCR6 C-C motif chemokine receptor 6 gene DOID:9001472 Nasal Polyps ISO RGD:1318406 D RGD:9068941 20200609 RGD associated with Rhinosinusitis PMID:22287435|REF_RGD_ID:7483612 11861951 CCR6 C-C motif chemokine receptor 6 gene DOID:9003036 Oral Lichen Planus ISO RGD:1318406 D RGD:9068941 20200609 RGD PMID:16454813|REF_RGD_ID:7483584 11861959 NLRP6 NLR family pyrin domain containing 6 gene DOID:0111969 immunodeficiency 39 ISO RGD:1350327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11861959 NLRP6 NLR family pyrin domain containing 6 gene DOID:630 genetic disease ISO RGD:1350327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861969 SYT10 synaptotagmin 10 gene DOID:11832 visual epilepsy ISO RGD:62041 D RGD:9068941 20200609 RGD PMID:9122248|REF_RGD_ID:61761 11861969 SYT10 synaptotagmin 10 gene DOID:630 genetic disease ISO RGD:1346254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861985 RD3L RD3 like gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:5683670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11861992 GALNT13 polypeptide N-acetylgalactosaminyltransferase 13 gene DOID:630 genetic disease ISO RGD:1343318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11861992 GALNT13 polypeptide N-acetylgalactosaminyltransferase 13 gene DOID:9005369 Hepatomegaly ISO RGD:1343318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 11862021 HUNK hormonally up-regulated Neu-associated kinase gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1344314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11862021 HUNK hormonally up-regulated Neu-associated kinase gene DOID:0060898 Parkinson's disease 20 ISO RGD:1344314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 11862021 HUNK hormonally up-regulated Neu-associated kinase gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1344314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11862021 HUNK hormonally up-regulated Neu-associated kinase gene DOID:630 genetic disease ISO RGD:1344314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862037 TOM1 target of myb1 membrane trafficking protein gene DOID:0090063 familial cold autoinflammatory syndrome 2 ISO RGD:1317553 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 PMID:25741868 11862037 TOM1 target of myb1 membrane trafficking protein gene DOID:630 genetic disease ISO RGD:1317553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862037 TOM1 target of myb1 membrane trafficking protein gene DOID:9001304 Immunodeficiency 85 ISO RGD:1317553 D RGD:7240710 20210908 OMIM 11862037 TOM1 target of myb1 membrane trafficking protein gene DOID:9001304 Immunodeficiency 85 ISO RGD:1317553 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Immunodeficiency 85 and autoimmunity PMID:31263572 11862064 SYCE3 synaptonemal complex central element protein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:2303881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 11862064 SYCE3 synaptonemal complex central element protein 3 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:2303881 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 11862064 SYCE3 synaptonemal complex central element protein 3 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:2303881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11862064 SYCE3 synaptonemal complex central element protein 3 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:2303881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 11862064 SYCE3 synaptonemal complex central element protein 3 gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:2303881 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 11862064 SYCE3 synaptonemal complex central element protein 3 gene DOID:10581 metachromatic leukodystrophy ISO RGD:2303881 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 11862064 SYCE3 synaptonemal complex central element protein 3 gene DOID:1059 intellectual disability ISO RGD:2303881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11862064 SYCE3 synaptonemal complex central element protein 3 gene DOID:630 genetic disease ISO RGD:2303881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862071 OLFM3 olfactomedin 3 gene DOID:1826 epilepsy ISO RGD:735294 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11862071 OLFM3 olfactomedin 3 gene DOID:540 strabismus ISO RGD:735294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Strabismus, susceptibility to 11862071 OLFM3 olfactomedin 3 gene DOID:630 genetic disease ISO RGD:735294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862089 SAMD9L sterile alpha motif domain containing 9 like gene DOID:0050908 myelodysplastic syndrome ISO RGD:1557974 D RGD:9068941 20220825 MouseDO OMIM:614286 11862089 SAMD9L sterile alpha motif domain containing 9 like gene DOID:1059 intellectual disability ISO RGD:1353410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11862089 SAMD9L sterile alpha motif domain containing 9 like gene DOID:10907 microcephaly ISO RGD:1353410 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11862089 SAMD9L sterile alpha motif domain containing 9 like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11862089 SAMD9L sterile alpha motif domain containing 9 like gene DOID:630 genetic disease ISO RGD:1353410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28166811|PMID:28492532|PMID:29146900|PMID:35310830 11862089 SAMD9L sterile alpha motif domain containing 9 like gene DOID:630 genetic disease ISO RGD:1353410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29146900|PMID:35310830 11862089 SAMD9L sterile alpha motif domain containing 9 like gene DOID:9000617 Myelocerebellar Disorder ISO RGD:1353410 D RGD:7240710 20190315 OMIM 11862089 SAMD9L sterile alpha motif domain containing 9 like gene DOID:9000617 Myelocerebellar Disorder ISO RGD:1353410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-pancytopenia syndrome PMID:2569483|PMID:25741868|PMID:27259050|PMID:28202457|PMID:283689|PMID:28492532|PMID:28570036|PMID:29146883|PMID:30046003|PMID:30322869|PMID:31692161|PMID:33884299|PMID:35310830 11862089 SAMD9L sterile alpha motif domain containing 9 like gene DOID:9000646 Spinocerebellar Ataxia 49 ISO RGD:1353410 D RGD:7240710 20220427 OMIM 11862089 SAMD9L sterile alpha motif domain containing 9 like gene DOID:9000646 Spinocerebellar Ataxia 49 ISO RGD:1353410 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 49 PMID:25741868|PMID:28492532|PMID:29146900|PMID:35310830 11862089 SAMD9L sterile alpha motif domain containing 9 like gene DOID:9007085 Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 ISO RGD:1353410 D RGD:7240710 20201223 OMIM 11862089 SAMD9L sterile alpha motif domain containing 9 like gene DOID:9007085 Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 ISO RGD:1353410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Monosomy 7 myelodysplasia and leukemia syndrome 1 PMID:2569483|PMID:25741868|PMID:27259050|PMID:28202457|PMID:28492532|PMID:28570036|PMID:29146883|PMID:30046003|PMID:33884299 11862110 SPATA13 spermatogenesis associated 13 gene DOID:1826 epilepsy ISO RGD:1316520 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11862110 SPATA13 spermatogenesis associated 13 gene DOID:5419 schizophrenia ISO RGD:1316520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11862110 SPATA13 spermatogenesis associated 13 gene DOID:630 genetic disease ISO RGD:1316520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862132 PHKG2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:732798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11862132 PHKG2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:0111043 glycogen storage disease IXc ISO RGD:732798 D RGD:7240710 20180130 OMIM 11862132 PHKG2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:0111043 glycogen storage disease IXc ISO RGD:732798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar Annotator: match by term: Glycogen storage disease type IXc PMID:10905889|PMID:12930917|PMID:16199547|PMID:17576681|PMID:17689125|PMID:21646031|PMID:22899091|PMID:24102521|PMID:24389071|PMID:25266922|PMID:2558039|PMID:25741868|PMID:27207549|PMID:28492532|PMID:32697758|PMID:6962066|PMID:7562285|PMID:8896567|PMID:9384616|PMID:9536098 11862132 PHKG2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:732798 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 11862132 PHKG2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:2747 glycogen storage disease ISO RGD:620024 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.D215N (rat) PMID:8896567|REF_RGD_ID:737724 11862132 PHKG2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:2747 glycogen storage disease ISO RGD:732798 D RGD:9068941 20200609 RGD DNA:insertion, missense mutations:multiple (human) PMID:8896567|REF_RGD_ID:737724 11862132 PHKG2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:5082 liver cirrhosis ISO RGD:732798 D RGD:9068941 20200609 RGD DNA:missense mutation, nonsense mutation (human) PMID:9384616|REF_RGD_ID:737725 11862132 PHKG2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:630 genetic disease ISO RGD:732798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11862132 PHKG2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:9000784 Fibrosis ISO RGD:732798 D RGD:9068941 20200609 RGD associated with Glycogen Storage Disease Type Ix;DNA:mutations:multiple (human) PMID:9384616|REF_RGD_ID:737725 11862132 PHKG2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:9000866 Mauriac Syndrome ISO RGD:732798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mauriac syndrome PMID:27207549|PMID:28492532 11862154 TMEM74B transmembrane protein 74B gene DOID:630 genetic disease ISO RGD:1354046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862184 ATP13A1 ATPase 13A1 gene DOID:630 genetic disease ISO RGD:1346886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862219 TNNI3 troponin I3, cardiac type gene DOID:0050638 transthyretin amyloidosis ISO RGD:737204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis PMID:11815426|PMID:12860912|PMID:15524171|PMID:15607392|PMID:18175163|PMID:21310275|PMID:23967088|PMID:24033266|PMID:24510615|PMID:25324519|PMID:25741868|PMID:25940119|PMID:28492532 11862219 TNNI3 troponin I3, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:737204 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10098965|PMID:10731705|PMID:10806205|PMID:11055985|PMID:11121119|PMID:11724573|PMID:11735257|PMID:11801593|PMID:11815426|PMID:11853553|PMID:12044157|PMID:12531876|PMID:12707239|PMID:12746413|PMID:12860912|PMID:12974739|PMID:14575308|PMID:15070570|PMID:15201162|PMID:15519027|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15718266|PMID:15774859|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16274223|PMID:16288990|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17010989|PMID:17599605|PMID:17872964|PMID:17932326|PMID:18006163|PMID:18175163|PMID:18269819|PMID:18403758|PMID:18409188|PMID:18423659|PMID:18430738|PMID:18467357|PMID:18533079|PMID:18548271|PMID:19035361|PMID:19289050|PMID:19590045|PMID:19645627|PMID:19651143|PMID:20031602|PMID:20057144|PMID:20350521|PMID:20474083|PMID:20624503|PMID:20641121|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21799269|PMID:21839045|PMID:21846512|PMID:21896538|PMID:21967901|PMID:22301726|PMID:22361390|PMID:22429680|PMID:22464770|PMID:22500102|PMID:22675533|PMID:22876777|PMID:22940544|PMID:22958901|PMID:23270746|PMID:23283745|PMID:23540544|PMID:23610579|PMID:23690394|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:24704860|PMID:25086479|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25685665|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26199943|PMID:26391394|PMID:26440512|PMID:26506446|PMID:26688388|PMID:26914223|PMID:26936621|PMID:27532257|PMID:27557662|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28382084|PMID:28492532|PMID:28498465|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29121657|PMID:29255176|PMID:29661763|PMID:30731207|PMID:30847666|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31447099|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:32686758|PMID:33407484|PMID:33673806|PMID:34213952|PMID:34540771|PMID:35535697|PMID:7592712|PMID:9241277 11862219 TNNI3 troponin I3, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:737204 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy with or without skeletal myopathy PMID:10098965|PMID:10731705|PMID:10806205|PMID:11055985|PMID:11121119|PMID:11724573|PMID:11735257|PMID:11801593|PMID:11815426|PMID:11853553|PMID:12044157|PMID:12531876|PMID:12707239|PMID:12746413|PMID:12860912|PMID:12974739|PMID:14575308|PMID:15070570|PMID:15201162|PMID:15519027|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15718266|PMID:15774859|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16274223|PMID:16288990|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17010989|PMID:17599605|PMID:17872964|PMID:17932326|PMID:18006163|PMID:18175163|PMID:18269819|PMID:18403758|PMID:18409188|PMID:18423659|PMID:18430738|PMID:18467357|PMID:18533079|PMID:18548271|PMID:19035361|PMID:19289050|PMID:19590045|PMID:19645627|PMID:19651143|PMID:20031602|PMID:20057144|PMID:20350521|PMID:20474083|PMID:20624503|PMID:20641121|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21799269|PMID:21839045|PMID:21846512|PMID:21896538|PMID:21967901|PMID:22301726|PMID:22361390|PMID:22429680|PMID:22464770|PMID:22500102|PMID:22675533|PMID:22876777|PMID:22940544|PMID:22958901|PMID:23270746|PMID:23283745|PMID:23540544|PMID:23610579|PMID:23690394|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:24704860|PMID:25086479|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25685665|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26199943|PMID:26391394|PMID:26440512|PMID:26506446|PMID:26688388|PMID:26914223|PMID:26936621|PMID:27532257|PMID:27557662|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28382084|PMID:28492532|PMID:28498465|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29121657|PMID:29255176|PMID:29661763|PMID:30731207|PMID:30847666|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31447099|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:32686758|PMID:33407484|PMID:33673806|PMID:34213952|PMID:34540771|PMID:35050212|PMID:35535697|PMID:7592712|PMID:9241277 11862219 TNNI3 troponin I3, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:737204 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10098965|PMID:10731705|PMID:10806205|PMID:11055985|PMID:11121119|PMID:11724573|PMID:11735257|PMID:11801593|PMID:11815426|PMID:11853553|PMID:12044157|PMID:12531876|PMID:12707239|PMID:12746413|PMID:12860912|PMID:12923217|PMID:12974739|PMID:14575308|PMID:15070570|PMID:15201162|PMID:15519027|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15718266|PMID:15774859|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16274223|PMID:16288990|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17010989|PMID:17576681|PMID:17599605|PMID:17872964|PMID:17932326|PMID:18006163|PMID:18175163|PMID:18269819|PMID:18403758|PMID:18409188|PMID:18423659|PMID:18430738|PMID:18467357|PMID:18533079|PMID:18548271|PMID:18801787|PMID:19035361|PMID:19289050|PMID:19590045|PMID:19645627|PMID:19651143|PMID:20031602|PMID:20035081|PMID:20057144|PMID:20086309|PMID:20350521|PMID:20474083|PMID:20569525|PMID:20624503|PMID:20641121|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21846512|PMID:21896538|PMID:21967901|PMID:22301726|PMID:22361390|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22579248|PMID:22579625|PMID:22675533|PMID:22765922|PMID:22876777|PMID:22940544|PMID:22958901|PMID:23140321|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23540544|PMID:23610579|PMID:23690394|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:24704860|PMID:24793961|PMID:25086479|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25685665|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26199943|PMID:26391394|PMID:26440512|PMID:26506446|PMID:26688388|PMID:26914223|PMID:26936621|PMID:27532257|PMID:27557662|PMID:27600940|PMID:27895589|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28359509|PMID:28382084|PMID:28408708|PMID:28420666|PMID:28436080|PMID:28492532|PMID:28498465|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29121657|PMID:29141175|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29661763|PMID:29875424|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30297972|PMID:30385303|PMID:30615648|PMID:30731207|PMID:30847666|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31447099|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32458740|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32758068|PMID:32830170|PMID:32870709|PMID:33407484|PMID:33487615|PMID:33495597|PMID:33673806|PMID:33906374|PMID:34036930|PMID:34137518|PMID:34213952|PMID:34286374|PMID:34540771|PMID:35050212|PMID:35535697|PMID:36129056|PMID:7592712|PMID:9241277|PMID:9536098 11862219 TNNI3 troponin I3, cardiac type gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10098965|PMID:10806205|PMID:11735257|PMID:11815426|PMID:12531876|PMID:12707239|PMID:12860912|PMID:15070570|PMID:15201162|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17027633|PMID:17463320|PMID:18408133|PMID:18423659|PMID:19033660|PMID:19289050|PMID:19449150|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20035081|PMID:20161772|PMID:20350521|PMID:20624503|PMID:20641121|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22112859|PMID:22301726|PMID:22429680|PMID:22579625|PMID:22675533|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23540544|PMID:23610579|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24510615|PMID:24704860|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26506446|PMID:26741492|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30279906|PMID:30297972|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33673806|PMID:33777698|PMID:34137518|PMID:35535697|PMID:9241277 11862219 TNNI3 troponin I3, cardiac type gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10098965|PMID:10806205|PMID:11735257|PMID:11815426|PMID:12531876|PMID:12707239|PMID:12860912|PMID:15070570|PMID:15201162|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17027633|PMID:17463320|PMID:18408133|PMID:18423659|PMID:19033660|PMID:19289050|PMID:19449150|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20035081|PMID:20161772|PMID:20350521|PMID:20624503|PMID:20641121|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22112859|PMID:22301726|PMID:22429680|PMID:22579625|PMID:22675533|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23540544|PMID:23610579|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24510615|PMID:24704860|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26506446|PMID:26741492|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30279906|PMID:30297972|PMID:30384889|PMID:30847666|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33673806|PMID:33777698|PMID:34137518|PMID:35535697|PMID:9241277 11862219 TNNI3 troponin I3, cardiac type gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737204 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10098965|PMID:10806205|PMID:11735257|PMID:12531876|PMID:12707239|PMID:12860912|PMID:15070570|PMID:15607392|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:16531415|PMID:17027633|PMID:17463320|PMID:18408133|PMID:18423659|PMID:19289050|PMID:19449150|PMID:20161772|PMID:20350521|PMID:20474083|PMID:20624503|PMID:20641121|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22301726|PMID:22429680|PMID:22464770|PMID:22675533|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23540544|PMID:23610579|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26440512|PMID:26741492|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29176140|PMID:29907873|PMID:30279906|PMID:31006259|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32686758|PMID:33407484|PMID:33673806|PMID:9241277 11862219 TNNI3 troponin I3, cardiac type gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10098965|PMID:10806205|PMID:11735257|PMID:11815426|PMID:12531876|PMID:12707239|PMID:12860912|PMID:15070570|PMID:15201162|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17027633|PMID:17463320|PMID:18408133|PMID:18423659|PMID:19033660|PMID:19289050|PMID:19449150|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20035081|PMID:20161772|PMID:20350521|PMID:20474083|PMID:20624503|PMID:20641121|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22112859|PMID:22301726|PMID:22429680|PMID:22464770|PMID:22579625|PMID:22675533|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23540544|PMID:23610579|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24503780|PMID:24510615|PMID:24704860|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26440512|PMID:26506446|PMID:26741492|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30279906|PMID:30297972|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33673806|PMID:33777698|PMID:34137518|PMID:35535697|PMID:9241277 11862219 TNNI3 troponin I3, cardiac type gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10098965|PMID:10806205|PMID:11735257|PMID:11815426|PMID:12531876|PMID:12707239|PMID:12860912|PMID:15070570|PMID:15201162|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17027633|PMID:17463320|PMID:18408133|PMID:18423659|PMID:19033660|PMID:19289050|PMID:19449150|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20035081|PMID:20161772|PMID:20350521|PMID:20474083|PMID:20624503|PMID:20641121|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22112859|PMID:22301726|PMID:22429680|PMID:22464770|PMID:22579625|PMID:22675533|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23540544|PMID:23610579|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24503780|PMID:24510615|PMID:24704860|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26440512|PMID:26506446|PMID:26741492|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30279906|PMID:30297972|PMID:30847666|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33673806|PMID:33777698|PMID:34137518|PMID:35535697|PMID:9241277 11862219 TNNI3 troponin I3, cardiac type gene DOID:0110313 hypertrophic cardiomyopathy 7 ISO RGD:737204 D RGD:7240710 20180130 OMIM 11862219 TNNI3 troponin I3, cardiac type gene DOID:0110313 hypertrophic cardiomyopathy 7 ISO RGD:737204 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 7 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7 PMID:10098965|PMID:10731705|PMID:10806205|PMID:11055985|PMID:11121119|PMID:11724573|PMID:11735257|PMID:11801593|PMID:11815426|PMID:11853553|PMID:12044157|PMID:12531876|PMID:12707239|PMID:12860912|PMID:12923217|PMID:12974739|PMID:14575308|PMID:15070570|PMID:15201162|PMID:15519027|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15718266|PMID:15992656|PMID:16005017|PMID:16020591|PMID:16199542|PMID:16267253|PMID:16274223|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17932326|PMID:18006163|PMID:18175163|PMID:18403758|PMID:18423659|PMID:18430738|PMID:18533079|PMID:18548271|PMID:19035361|PMID:19289050|PMID:19645627|PMID:19651143|PMID:20031618|PMID:20035081|PMID:20057144|PMID:20086309|PMID:20350521|PMID:20624503|PMID:20641121|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21846512|PMID:21896538|PMID:21967901|PMID:22072597|PMID:22086914|PMID:22301726|PMID:22361390|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22579248|PMID:22675533|PMID:22765922|PMID:22857948|PMID:22876777|PMID:22958901|PMID:23140321|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23540544|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:24704860|PMID:24973218|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25685665|PMID:25741868|PMID:25940119|PMID:25961037|PMID:26169204|PMID:26199943|PMID:26391394|PMID:26440512|PMID:26506446|PMID:26914223|PMID:27532257|PMID:27557662|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28436080|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30297972|PMID:30615648|PMID:30847666|PMID:30975432|PMID:31006259|PMID:3144325|PMID:31447099|PMID:31513939|PMID:31534214|PMID:31737537|PMID:31877599|PMID:31983221|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32758068|PMID:32830170|PMID:32885985|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33658040|PMID:33673806|PMID:34036930|PMID:34137518|PMID:34286374|PMID:35535697|PMID:9241277 11862219 TNNI3 troponin I3, cardiac type gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:737204 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1N PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:12923217|PMID:15070570|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18175163|PMID:18403758|PMID:19645627|PMID:20035081|PMID:20086309|PMID:20350521|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22579248|PMID:22876777|PMID:22958901|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28436080|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30297972|PMID:30615648|PMID:30847666|PMID:31006259|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31737537|PMID:31877599|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34137518|PMID:34286374|PMID:35535697|PMID:9241277 11862219 TNNI3 troponin I3, cardiac type gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:737204 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:28492532 11862219 TNNI3 troponin I3, cardiac type gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:737204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:28492532 11862219 TNNI3 troponin I3, cardiac type gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:737204 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:11735257|PMID:18006163|PMID:18467357|PMID:18533079|PMID:20057144|PMID:24033266|PMID:25741868|PMID:26688388|PMID:28492532|PMID:31568572|PMID:34213952|PMID:34286374|PMID:35050212|PMID:36129056|PMID:9241277 11862219 TNNI3 troponin I3, cardiac type gene DOID:0110459 dilated cardiomyopathy 1FF ISO RGD:737204 D RGD:7240710 20180130 OMIM 11862219 TNNI3 troponin I3, cardiac type gene DOID:0110459 dilated cardiomyopathy 1FF ISO RGD:737204 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1FF PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:12923217|PMID:15070570|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18175163|PMID:18403758|PMID:19590045|PMID:19645627|PMID:20035081|PMID:20086309|PMID:20350521|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22579248|PMID:22876777|PMID:22958901|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28436080|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30297972|PMID:30615648|PMID:30847666|PMID:31006259|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31737537|PMID:31877599|PMID:32458740|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34137518|PMID:34286374|PMID:35535697|PMID:9241277 11862219 TNNI3 troponin I3, cardiac type gene DOID:0110460 dilated cardiomyopathy 2A ISO RGD:737204 D RGD:7240710 20180130 OMIM 11862219 TNNI3 troponin I3, cardiac type gene DOID:0110460 dilated cardiomyopathy 2A ISO RGD:737204 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated cardiomyopathy 2A PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:12923217|PMID:15070570|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18006163|PMID:18175163|PMID:18403758|PMID:18467357|PMID:18533079|PMID:19590045|PMID:19645627|PMID:20035081|PMID:20057144|PMID:20086309|PMID:20350521|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22579248|PMID:22876777|PMID:22940544|PMID:22958901|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26688388|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28436080|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30297972|PMID:30615648|PMID:30847666|PMID:31006259|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:32870709|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34137518|PMID:34213952|PMID:34286374|PMID:35050212|PMID:35535697|PMID:36129056|PMID:9241277 11862219 TNNI3 troponin I3, cardiac type gene DOID:0110626 primary ciliary dyskinesia 2 ISO RGD:737204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 2 PMID:24033266|PMID:25741868|PMID:28492532 11862219 TNNI3 troponin I3, cardiac type gene DOID:0110936 nemaline myopathy 5 ISO RGD:737204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5 PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532 11862219 TNNI3 troponin I3, cardiac type gene DOID:0111425 restrictive cardiomyopathy 1 ISO RGD:737204 D RGD:7240710 20180130 OMIM 11862219 TNNI3 troponin I3, cardiac type gene DOID:0111425 restrictive cardiomyopathy 1 ISO RGD:737204 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 PMID:10098965|PMID:10806205|PMID:11735257|PMID:11815426|PMID:12531876|PMID:12707239|PMID:12746413|PMID:12860912|PMID:12923217|PMID:15070570|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16288990|PMID:16352453|PMID:16531415|PMID:17027633|PMID:17463320|PMID:17599605|PMID:18175163|PMID:18269819|PMID:18403758|PMID:18408133|PMID:18409188|PMID:18423659|PMID:19035361|PMID:19289050|PMID:19449150|PMID:19645627|PMID:19651143|PMID:20031602|PMID:20031618|PMID:20035081|PMID:20086309|PMID:20161772|PMID:20350521|PMID:20641121|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22579248|PMID:22675533|PMID:22876777|PMID:22958901|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23610579|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25326637|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26741492|PMID:26914223|PMID:27532257|PMID:27557662|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28382084|PMID:28408708|PMID:28436080|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29661763|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30279906|PMID:30297972|PMID:30384889|PMID:30615648|PMID:30847666|PMID:31006259|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32182250|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33429969|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34137518|PMID:34286374|PMID:35535697|PMID:9241277 11862219 TNNI3 troponin I3, cardiac type gene DOID:114 heart disease ISO RGD:737204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19549929 11862219 TNNI3 troponin I3, cardiac type gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737204 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10098965|PMID:10731705|PMID:10806205|PMID:11055985|PMID:11121119|PMID:11724573|PMID:11735257|PMID:11801593|PMID:11815426|PMID:11853553|PMID:12044157|PMID:12531876|PMID:12707239|PMID:12746413|PMID:12860912|PMID:12923217|PMID:12974739|PMID:14575308|PMID:15070570|PMID:15201162|PMID:15519027|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15718266|PMID:15774859|PMID:15961398|PMID:15992656|PMID:16005017|PMID:16020591|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16274223|PMID:16288990|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17010989|PMID:17027633|PMID:17463320|PMID:17576681|PMID:17599605|PMID:17872964|PMID:17932326|PMID:18006163|PMID:18175163|PMID:18269819|PMID:18403758|PMID:18408133|PMID:18409188|PMID:18414213|PMID:18423659|PMID:18430738|PMID:18467357|PMID:18533079|PMID:18548271|PMID:18801787|PMID:19033660|PMID:19035361|PMID:19289050|PMID:19449150|PMID:19590045|PMID:19645627|PMID:19651143|PMID:19754353|PMID:19914256|PMID:20031602|PMID:20031618|PMID:20035081|PMID:20057144|PMID:20086309|PMID:20161772|PMID:20215591|PMID:20350521|PMID:20474083|PMID:20530761|PMID:20569525|PMID:20617149|PMID:20624503|PMID:20641121|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21846512|PMID:21896538|PMID:21967901|PMID:22072597|PMID:22086914|PMID:22112859|PMID:22301726|PMID:22361390|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22579248|PMID:22579625|PMID:22675533|PMID:22765922|PMID:22857948|PMID:22876777|PMID:22940544|PMID:22958901|PMID:23140321|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23540544|PMID:23610579|PMID:23690394|PMID:23785128|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24503780|PMID:24510615|PMID:24704860|PMID:24793961|PMID:24973218|PMID:25086479|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25324519|PMID:25326637|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25685665|PMID:25741868|PMID:25771144|PMID:25940119|PMID:25961037|PMID:26169204|PMID:26199943|PMID:26391394|PMID:26440512|PMID:26506446|PMID:26688388|PMID:26741492|PMID:26914223|PMID:26936621|PMID:27532257|PMID:27557662|PMID:27600940|PMID:27895589|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28255936|PMID:28356264|PMID:28359509|PMID:28382084|PMID:28408708|PMID:28420666|PMID:28436080|PMID:28492532|PMID:28498465|PMID:28615295|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29121657|PMID:29141175|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29661763|PMID:29710196|PMID:29875424|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30279906|PMID:30297972|PMID:30384889|PMID:30385303|PMID:30615648|PMID:30731207|PMID:30847666|PMID:30953456|PMID:30975432|PMID:31006259|PMID:31112419|PMID:31333075|PMID:3144325|PMID:31447099|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:31912959|PMID:31983221|PMID:32182250|PMID:32458740|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32758068|PMID:32830170|PMID:32870709|PMID:32885985|PMID:33019804|PMID:33407484|PMID:33429969|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33658040|PMID:33673806|PMID:33777698|PMID:33906374|PMID:34036930|PMID:34137518|PMID:34213952|PMID:34286374|PMID:34540771|PMID:35050212|PMID:35535697|PMID:36129056|PMID:7592712|PMID:9241277|PMID:9536098 11862219 TNNI3 troponin I3, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:737204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18175163|PMID:18414213|PMID:20474083|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:22464770|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25326637|PMID:25351510|PMID:25524337|PMID:25741868|PMID:25940119|PMID:26440512|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28492532|PMID:28771489|PMID:28790153|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31534214|PMID:31568572|PMID:31877599|PMID:9241277 11862219 TNNI3 troponin I3, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:737204 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18006163|PMID:18175163|PMID:18414213|PMID:18467357|PMID:18533079|PMID:20057144|PMID:20474083|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:22464770|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25351510|PMID:25524337|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26688388|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28492532|PMID:28771489|PMID:28790153|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:32686758|PMID:33407484|PMID:33673806|PMID:34213952|PMID:9241277 11862219 TNNI3 troponin I3, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:737204 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18006163|PMID:18175163|PMID:18414213|PMID:18467357|PMID:18533079|PMID:20057144|PMID:20474083|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:22464770|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25351510|PMID:25524337|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26688388|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28492532|PMID:28771489|PMID:28790153|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:32686758|PMID:33407484|PMID:33673806|PMID:34213952|PMID:35050212|PMID:9241277 11862219 TNNI3 troponin I3, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:737204 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:12923217|PMID:15070570|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18006163|PMID:18175163|PMID:18403758|PMID:18414213|PMID:18467357|PMID:18533079|PMID:19645627|PMID:20035081|PMID:20057144|PMID:20086309|PMID:20350521|PMID:20474083|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22579248|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26688388|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30297972|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:32492895|PMID:32686758|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33495597|PMID:33673806|PMID:34137518|PMID:34213952|PMID:35050212|PMID:35535697|PMID:9241277 11862219 TNNI3 troponin I3, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:737204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:12923217|PMID:15070570|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18006163|PMID:18175163|PMID:18403758|PMID:18414213|PMID:18467357|PMID:18533079|PMID:19645627|PMID:20035081|PMID:20057144|PMID:20086309|PMID:20350521|PMID:20474083|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22579248|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26688388|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30297972|PMID:30847666|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:32458740|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33495597|PMID:33673806|PMID:34137518|PMID:34213952|PMID:35050212|PMID:35535697|PMID:9241277 11862219 TNNI3 troponin I3, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:737204 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:12923217|PMID:15070570|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18006163|PMID:18175163|PMID:18403758|PMID:18414213|PMID:18467357|PMID:18533079|PMID:19645627|PMID:20035081|PMID:20057144|PMID:20086309|PMID:20350521|PMID:20474083|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22579248|PMID:22876777|PMID:22958901|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26688388|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28436080|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30297972|PMID:30615648|PMID:30847666|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:32458740|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34137518|PMID:34213952|PMID:34286374|PMID:35050212|PMID:35535697|PMID:36129056|PMID:9241277 11862219 TNNI3 troponin I3, cardiac type gene DOID:3191 nemaline myopathy ISO RGD:737204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Recessive PMID:24033266|PMID:25741868|PMID:28492532 11862219 TNNI3 troponin I3, cardiac type gene DOID:3393 coronary artery disease ISO RGD:737204 D RGD:9068941 20200609 RGD PMID:12221049|REF_RGD_ID:1580780 11862219 TNNI3 troponin I3, cardiac type gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:737204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:11815426|PMID:12860912|PMID:15524171|PMID:15607392|PMID:18175163|PMID:18414213|PMID:20474083|PMID:21310275|PMID:21511876|PMID:22876777|PMID:23967088|PMID:24033266|PMID:24503780|PMID:24510615|PMID:25324519|PMID:25741868|PMID:25940119|PMID:26440512|PMID:28492532|PMID:9241277 11862219 TNNI3 troponin I3, cardiac type gene DOID:397 restrictive cardiomyopathy ISO RGD:737204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy | ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:10098965|PMID:11735257|PMID:11815426|PMID:12531876|PMID:12746413|PMID:12860912|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16288990|PMID:16531415|PMID:17027633|PMID:17463320|PMID:17599605|PMID:18175163|PMID:18269819|PMID:18408133|PMID:18409188|PMID:18414213|PMID:18423659|PMID:18801787|PMID:19035361|PMID:19289050|PMID:19449150|PMID:19651143|PMID:20031602|PMID:20031618|PMID:20035081|PMID:20161772|PMID:20474083|PMID:20569525|PMID:20617149|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21839045|PMID:22675533|PMID:23283745|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24474965|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25324519|PMID:25440410|PMID:25611685|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26741492|PMID:27532257|PMID:27557662|PMID:27895589|PMID:28255936|PMID:28382084|PMID:28408708|PMID:28492532|PMID:28615295|PMID:29176140|PMID:29255176|PMID:29661763|PMID:29710196|PMID:29907873|PMID:30279906|PMID:31333075|PMID:31568572|PMID:31737537|PMID:31912959|PMID:9241277 11862219 TNNI3 troponin I3, cardiac type gene DOID:5844 myocardial infarction ISO RGD:737204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12359538 11862219 TNNI3 troponin I3, cardiac type gene DOID:630 genetic disease ISO RGD:737204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11862219 TNNI3 troponin I3, cardiac type gene DOID:820 myocarditis ISO RGD:737204 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myocarditis PMID:11735257|PMID:18006163|PMID:18467357|PMID:18533079|PMID:20057144|PMID:24033266|PMID:25741868|PMID:26688388|PMID:28492532|PMID:31568572|PMID:34213952|PMID:34286374|PMID:35050212|PMID:36129056|PMID:9241277 11862219 TNNI3 troponin I3, cardiac type gene DOID:9000299 cardiac amyloidosis ISO RGD:737204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY PMID:11815426|PMID:12860912|PMID:15524171|PMID:15607392|PMID:18175163|PMID:21310275|PMID:23967088|PMID:24033266|PMID:24510615|PMID:25324519|PMID:25741868|PMID:25940119|PMID:28492532 11862219 TNNI3 troponin I3, cardiac type gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:737204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:15774859|PMID:17010989|PMID:17872964|PMID:23690394|PMID:24033266|PMID:25741868|PMID:26936621|PMID:27532257|PMID:28492532|PMID:30731207|PMID:34540771|PMID:7592712 11862219 TNNI3 troponin I3, cardiac type gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:737204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial amyloid polyneuropathy PMID:11815426|PMID:12860912|PMID:15524171|PMID:15607392|PMID:18175163|PMID:21310275|PMID:23967088|PMID:24033266|PMID:24510615|PMID:25324519|PMID:25741868|PMID:25940119|PMID:28492532 11862219 TNNI3 troponin I3, cardiac type gene DOID:9001686 Acute Coronary Syndrome ISO RGD:737204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15966572 11862219 TNNI3 troponin I3, cardiac type gene DOID:9007 sudden infant death syndrome ISO RGD:737204 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:10098965|PMID:11735257|PMID:12531876|PMID:12707239|PMID:12746413|PMID:15607392|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16288990|PMID:16531415|PMID:17027633|PMID:17463320|PMID:17599605|PMID:18269819|PMID:18408133|PMID:18409188|PMID:18423659|PMID:19035361|PMID:19289050|PMID:19449150|PMID:19651143|PMID:20031602|PMID:20161772|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21533915|PMID:21839045|PMID:22301726|PMID:22675533|PMID:23283745|PMID:23906401|PMID:24033266|PMID:24111713|PMID:24474965|PMID:25132132|PMID:25440410|PMID:25611685|PMID:25741868|PMID:26169204|PMID:26741492|PMID:27532257|PMID:27557662|PMID:28382084|PMID:28492532|PMID:29176140|PMID:29661763|PMID:29907873|PMID:30279906|PMID:31912959|PMID:9241277 11862219 TNNI3 troponin I3, cardiac type gene DOID:9007096 Stroke ISO RGD:737204 D RGD:9068941 20200609 RGD PMID:15604421|REF_RGD_ID:1580421 11862219 TNNI3 troponin I3, cardiac type gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:62344 D RGD:9068941 20230429 RGD PMID:30259997|REF_RGD_ID:329337366 11862219 TNNI3 troponin I3, cardiac type gene DOID:9007925 Sudden Cardiac Death ISO RGD:737204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest PMID:21839045|PMID:25741868 11862219 TNNI3 troponin I3, cardiac type gene DOID:9562 primary ciliary dyskinesia ISO RGD:737204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:22387996|PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532 11862231 SERPINB8 serpin family B member 8 gene DOID:0060283 peeling skin syndrome ISO RGD:1320387 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11862231 SERPINB8 serpin family B member 8 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1320387 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11862231 SERPINB8 serpin family B member 8 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1320387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 11862231 SERPINB8 serpin family B member 8 gene DOID:630 genetic disease ISO RGD:1320387 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11862231 SERPINB8 serpin family B member 8 gene DOID:8893 psoriasis ISO RGD:1320387 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953187 11862231 SERPINB8 serpin family B member 8 gene DOID:9005907 Peeling Skin Syndrome 5 ISO RGD:1320387 D RGD:7240710 20190315 OMIM 11862231 SERPINB8 serpin family B member 8 gene DOID:9005907 Peeling Skin Syndrome 5 ISO RGD:1320387 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peeling skin syndrome 5 PMID:25741868|PMID:27476651|PMID:28492532 11862255 RAP1GAP RAP1 GTPase activating protein gene DOID:0050908 myelodysplastic syndrome ISO RGD:1320507 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow, mononuclear cells (human) PMID:18551404|REF_RGD_ID:9835346 11862255 RAP1GAP RAP1 GTPase activating protein gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1320507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22614916 11862255 RAP1GAP RAP1 GTPase activating protein gene DOID:0060369 Parkinson's disease 6 ISO RGD:1320507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11862255 RAP1GAP RAP1 GTPase activating protein gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1320507 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11862255 RAP1GAP RAP1 GTPase activating protein gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1320507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11862255 RAP1GAP RAP1 GTPase activating protein gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1320507 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (human) PMID:24642466|REF_RGD_ID:9835343 11862255 RAP1GAP RAP1 GTPase activating protein gene DOID:1793 pancreatic cancer ISO RGD:1320507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22614916 11862255 RAP1GAP RAP1 GTPase activating protein gene DOID:1793 pancreatic cancer ISO RGD:1320507 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreas (human) PMID:16424023|REF_RGD_ID:9835037 11862255 RAP1GAP RAP1 GTPase activating protein gene DOID:1909 melanoma ISO RGD:1320507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19147557|PMID:22614916 11862255 RAP1GAP RAP1 GTPase activating protein gene DOID:1909 melanoma ISO RGD:1320507 D RGD:9068941 20200609 RGD protein:decreased expression:epidermal melanocyte (human) PMID:19147557|REF_RGD_ID:9835344 11862255 RAP1GAP RAP1 GTPase activating protein gene DOID:3312 bipolar disorder ISO RGD:1320507 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:dorsolateral prefrontal cortex (human) PMID:16687443|REF_RGD_ID:5490162 11862255 RAP1GAP RAP1 GTPase activating protein gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1320507 D RGD:9068941 20200609 RGD protein:decreased expression:thyroid gland (human) PMID:19066305|REF_RGD_ID:9835342 11862255 RAP1GAP RAP1 GTPase activating protein gene DOID:630 genetic disease ISO RGD:1320507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862255 RAP1GAP RAP1 GTPase activating protein gene DOID:9000918 Disease Progression ISO RGD:1320507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22614916 11862255 RAP1GAP RAP1 GTPase activating protein gene DOID:9004547 Thyroid Neoplasms ISO RGD:1320507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22614916 11862255 RAP1GAP RAP1 GTPase activating protein gene DOID:9004547 Thyroid Neoplasms ISO RGD:1320507 D RGD:9068941 20200609 RGD protein:decreased expression:thyroid gland (human) PMID:17646383|REF_RGD_ID:9835038 11862255 RAP1GAP RAP1 GTPase activating protein gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1320507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11862303 SKI SKI proto-oncogene gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1342955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11862303 SKI SKI proto-oncogene gene DOID:0060041 autism spectrum disorder ISO RGD:1342955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:25741868|PMID:28492532 11862303 SKI SKI proto-oncogene gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1342955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11862303 SKI SKI proto-oncogene gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1342955 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:17576681|PMID:19112531|PMID:19114989|PMID:20635359|PMID:23023332|PMID:23103230|PMID:23892090|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25326635|PMID:25326637|PMID:25741868|PMID:28492532|PMID:29168297|PMID:33436942|PMID:9536098 11862303 SKI SKI proto-oncogene gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1342955 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:15979919|PMID:16327884|PMID:17576681|PMID:19112531|PMID:19114989|PMID:20635359|PMID:21699693|PMID:23023332|PMID:23103230|PMID:23892090|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25326635|PMID:25741868|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:29168297|PMID:29543232|PMID:31322791|PMID:33436942|PMID:7977351|PMID:8449506|PMID:8981946|PMID:9536098 11862303 SKI SKI proto-oncogene gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1342955 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:15979919|PMID:16199547|PMID:16327884|PMID:17576681|PMID:19112531|PMID:19114989|PMID:21699693|PMID:23023332|PMID:23103230|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25326635|PMID:25741868|PMID:27146836|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:28857439|PMID:29168297|PMID:29543232|PMID:31322791|PMID:31980905|PMID:32123317|PMID:33416497|PMID:33436942|PMID:33824467|PMID:7977351|PMID:8449506|PMID:8981946|PMID:9536098 11862303 SKI SKI proto-oncogene gene DOID:0060811 syndromic X-linked intellectual disability Turner type ISO RGD:1342955 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked syndromic, Turner type PMID:25741868|PMID:28492532 11862303 SKI SKI proto-oncogene gene DOID:0080074 neural tube defect ISO RGD:1342955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9284043 11862303 SKI SKI proto-oncogene gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1342955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11862303 SKI SKI proto-oncogene gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1342955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11862303 SKI SKI proto-oncogene gene DOID:0110994 Joubert syndrome 25 ISO RGD:1342955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11862303 SKI SKI proto-oncogene gene DOID:0111934 immunodeficiency 38 ISO RGD:1342955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11862303 SKI SKI proto-oncogene gene DOID:0111935 immunodeficiency 16 ISO RGD:1342955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11862303 SKI SKI proto-oncogene gene DOID:1059 intellectual disability ISO RGD:1342955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11862303 SKI SKI proto-oncogene gene DOID:14004 thoracic aortic aneurysm ISO RGD:1342955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 11862303 SKI SKI proto-oncogene gene DOID:14004 thoracic aortic aneurysm ISO RGD:1342955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:15979919|PMID:16327884|PMID:19112531|PMID:21699693|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:29543232|PMID:31322791|PMID:33824467|PMID:7977351|PMID:8449506|PMID:8981946 11862303 SKI SKI proto-oncogene gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1342955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11862303 SKI SKI proto-oncogene gene DOID:3627 aortic aneurysm ISO RGD:1342955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23023332 11862303 SKI SKI proto-oncogene gene DOID:630 genetic disease ISO RGD:1342955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19114989|PMID:23023332|PMID:23103230|PMID:24357594|PMID:24736733|PMID:25741868|PMID:28492532|PMID:31980905|PMID:33416497|PMID:33436942 11862303 SKI SKI proto-oncogene gene DOID:9001528 ARTERIAL DISSECTION ISO RGD:1342955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arterial dissection PMID:28492532 11862303 SKI SKI proto-oncogene gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342955 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:23023332|PMID:25363760|PMID:25741868|PMID:33416497 11862303 SKI SKI proto-oncogene gene DOID:9005004 Musculoskeletal Abnormalities ISO RGD:1342955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9284043 11862303 SKI SKI proto-oncogene gene DOID:9005890 Disproportionate Tall Stature ISO RGD:1342955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disproportionate tall stature PMID:25741868|PMID:28492532 11862303 SKI SKI proto-oncogene gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1342955 D RGD:7240710 20180130 OMIM 11862303 SKI SKI proto-oncogene gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1342955 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:15979919|PMID:16199547|PMID:16327884|PMID:17576681|PMID:19112531|PMID:19114989|PMID:21699693|PMID:23023332|PMID:23103230|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25326635|PMID:25741868|PMID:27146836|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:28857439|PMID:29168297|PMID:29543232|PMID:31322791|PMID:31980905|PMID:32123317|PMID:33416497|PMID:33436942|PMID:33824467|PMID:7977351|PMID:8449506|PMID:8981946|PMID:9536098 11862303 SKI SKI proto-oncogene gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1342955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11862303 SKI SKI proto-oncogene gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1342955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9284043 11862313 GGNBP2 gametogenetin binding protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1343556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 11862313 GGNBP2 gametogenetin binding protein 2 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1343556 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 11862313 GGNBP2 gametogenetin binding protein 2 gene DOID:12849 autistic disorder ISO RGD:1343556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11862313 GGNBP2 gametogenetin binding protein 2 gene DOID:5419 schizophrenia ISO RGD:1343556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11862313 GGNBP2 gametogenetin binding protein 2 gene DOID:630 genetic disease ISO RGD:1343556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862313 GGNBP2 gametogenetin binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11862313 GGNBP2 gametogenetin binding protein 2 gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:1343556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 11862313 GGNBP2 gametogenetin binding protein 2 gene DOID:9008582 Developmental Disease ISO RGD:1343556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11862340 GALNT11 polypeptide N-acetylgalactosaminyltransferase 11 gene DOID:0080598 Kleefstra syndrome 2 ISO RGD:1346736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 2 11862340 GALNT11 polypeptide N-acetylgalactosaminyltransferase 11 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1346736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:18348270|PMID:25606385|PMID:28492532 11862340 GALNT11 polypeptide N-acetylgalactosaminyltransferase 11 gene DOID:11372 megacolon ISO RGD:1346736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11862340 GALNT11 polypeptide N-acetylgalactosaminyltransferase 11 gene DOID:2843 long QT syndrome ISO RGD:1346736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11862340 GALNT11 polypeptide N-acetylgalactosaminyltransferase 11 gene DOID:630 genetic disease ISO RGD:1346736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862364 TANC1 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 gene DOID:1059 intellectual disability ISO RGD:1604561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11862364 TANC1 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 gene DOID:12849 autistic disorder ISO RGD:1604561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 11862364 TANC1 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 gene DOID:630 genetic disease ISO RGD:1604561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862404 HOXB1 homeobox B1 gene DOID:630 genetic disease ISO RGD:1321119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862404 HOXB1 homeobox B1 gene DOID:9001799 Hereditary Congenital Facial Paresis ISO RGD:1321119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24239177 11862404 HOXB1 homeobox B1 gene DOID:9006534 Nervous System Malformations ISO RGD:1321119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10529420 11862404 HOXB1 homeobox B1 gene DOID:9008662 Hereditary Congenital Facial Paresis 3 ISO RGD:1321119 D RGD:7240710 20180130 OMIM 11862404 HOXB1 homeobox B1 gene DOID:9008662 Hereditary Congenital Facial Paresis 3 ISO RGD:1321119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Facial paresis, hereditary congenital, 3 PMID:22770981|PMID:25741868|PMID:26007620|PMID:26467025|PMID:27144914|PMID:28492532 11862404 HOXB1 homeobox B1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1321119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10529420 11862410 LOC100992309 C-C motif chemokine 3 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1605181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:24088041|PMID:26633545 11862410 LOC100992309 C-C motif chemokine 3 gene DOID:12849 autistic disorder ISO RGD:1605181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11862410 LOC100992309 C-C motif chemokine 3 gene DOID:37 skin disease ISO RGD:1605181 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11862410 LOC100992309 C-C motif chemokine 3 gene DOID:630 genetic disease ISO RGD:1605181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862410 LOC100992309 C-C motif chemokine 3 gene DOID:9007964 Arsenic Poisoning ISO RGD:1605181 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11862418 TTC19 tetratricopeptide repeat domain 19 gene DOID:0060351 mitochondrial complex III deficiency nuclear type 2 ISO RGD:1353382 D RGD:7240710 20180130 OMIM 11862418 TTC19 tetratricopeptide repeat domain 19 gene DOID:0060351 mitochondrial complex III deficiency nuclear type 2 ISO RGD:1353382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 2 PMID:17576681|PMID:21278747|PMID:23532514|PMID:24368687|PMID:24397319|PMID:25741868|PMID:25887401|PMID:28492532|PMID:9536098 11862418 TTC19 tetratricopeptide repeat domain 19 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1353382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 11862418 TTC19 tetratricopeptide repeat domain 19 gene DOID:1289 neurodegenerative disease ISO RGD:1353382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278747 11862418 TTC19 tetratricopeptide repeat domain 19 gene DOID:5223 infertility ISO RGD:1353382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278747 11862418 TTC19 tetratricopeptide repeat domain 19 gene DOID:630 genetic disease ISO RGD:1353382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21278747|PMID:25741868|PMID:25887401|PMID:28492532 11862418 TTC19 tetratricopeptide repeat domain 19 gene DOID:863 nervous system disease ISO RGD:1353382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278747 11862418 TTC19 tetratricopeptide repeat domain 19 gene DOID:9006230 Neurologic Gait Disorders ISO RGD:1353382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278747 11862420 FBXL8 F-box and leucine rich repeat protein 8 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1352579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11862420 FBXL8 F-box and leucine rich repeat protein 8 gene DOID:0110255 cataract 5 multiple types ISO RGD:1352579 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 11862420 FBXL8 F-box and leucine rich repeat protein 8 gene DOID:630 genetic disease ISO RGD:1352579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862429 SNRPB2 small nuclear ribonucleoprotein polypeptide B2 gene DOID:14566 disease of cellular proliferation ISO RGD:1320950 D RGD:9068941 20200609 RGD mRNA:altered expression:multiple (human) PMID:18519667|REF_RGD_ID:10755689 11862429 SNRPB2 small nuclear ribonucleoprotein polypeptide B2 gene DOID:630 genetic disease ISO RGD:1320950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862429 SNRPB2 small nuclear ribonucleoprotein polypeptide B2 gene DOID:65 connective tissue disease ISO RGD:1320950 D RGD:9068941 20200609 RGD PMID:2968364|REF_RGD_ID:10448928 11862443 ATP5F1D ATP synthase F1 subunit delta gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1353040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 11862443 ATP5F1D ATP synthase F1 subunit delta gene DOID:0060180 colitis treatment ISO RGD:621372 D RGD:9068941 20200609 RGD PMID:23840258|REF_RGD_ID:13792680 11862443 ATP5F1D ATP synthase F1 subunit delta gene DOID:0060332 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 ISO RGD:1353040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Decreased activity of mitochondrial ATP synthase complex PMID:29478781 11862443 ATP5F1D ATP synthase F1 subunit delta gene DOID:10652 Alzheimer's disease ISO RGD:1353040 D RGD:9068941 20200609 RGD PMID:28474567|REF_RGD_ID:13792588 11862443 ATP5F1D ATP synthase F1 subunit delta gene DOID:11054 urinary bladder cancer ISO RGD:1353040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 11862443 ATP5F1D ATP synthase F1 subunit delta gene DOID:5339 cyclic hematopoiesis ISO RGD:1353040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11862443 ATP5F1D ATP synthase F1 subunit delta gene DOID:5844 myocardial infarction ISO RGD:621372 D RGD:9068941 20200609 RGD protein:decreased expression:myocardium (rat) PMID:29300489|REF_RGD_ID:13792656 11862443 ATP5F1D ATP synthase F1 subunit delta gene DOID:5844 myocardial infarction treatment ISO RGD:621372 D RGD:9068941 20200609 RGD PMID:23809007|REF_RGD_ID:13792681 11862443 ATP5F1D ATP synthase F1 subunit delta gene DOID:630 genetic disease ISO RGD:1353040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862443 ATP5F1D ATP synthase F1 subunit delta gene DOID:700 mitochondrial metabolism disease ISO RGD:1353040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:29478781 11862443 ATP5F1D ATP synthase F1 subunit delta gene DOID:9000815 Aortic Calcification treatment ISO RGD:621372 D RGD:9068941 20200609 RGD associated with Hypercholesterolemia PMID:26047104|REF_RGD_ID:11057945 11862443 ATP5F1D ATP synthase F1 subunit delta gene DOID:9003936 Cardiomegaly treatment ISO RGD:621372 D RGD:9068941 20200609 RGD PMID:25880160|REF_RGD_ID:13792672 11862443 ATP5F1D ATP synthase F1 subunit delta gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:621372 D RGD:9068941 20200609 RGD PMID:25738576|REF_RGD_ID:13792675 11862443 ATP5F1D ATP synthase F1 subunit delta gene DOID:9005595 Mitochondrial Complex V (ATP Synthase) Deficiency Nuclear Type 5 ISO RGD:1353040 D RGD:7240710 20190315 OMIM 11862443 ATP5F1D ATP synthase F1 subunit delta gene DOID:9005595 Mitochondrial Complex V (ATP Synthase) Deficiency Nuclear Type 5 ISO RGD:1353040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATP5F1D TYPE | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 PMID:25741868|PMID:28492532|PMID:29478781 11862443 ATP5F1D ATP synthase F1 subunit delta gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:621372 D RGD:9068941 20200609 RGD PMID:24232000|REF_RGD_ID:13792678 11862443 ATP5F1D ATP synthase F1 subunit delta gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:621372 D RGD:9068941 20200609 RGD protein:decreased expression:myocardium (rat) PMID:25305180|REF_RGD_ID:13792676 11862443 ATP5F1D ATP synthase F1 subunit delta gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:621372 D RGD:9068941 20200609 RGD PMID:26109848|REF_RGD_ID:13792666 11862443 ATP5F1D ATP synthase F1 subunit delta gene DOID:9970 obesity treatment ISO RGD:621372 D RGD:9068941 20200609 RGD PMID:27874268|REF_RGD_ID:13792665 11862450 TTC29 tetratricopeptide repeat domain 29 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1605320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 11862450 TTC29 tetratricopeptide repeat domain 29 gene DOID:0111923 spermatogenic failure 42 ISO RGD:1605320 D RGD:7240710 20200226 OMIM 11862450 TTC29 tetratricopeptide repeat domain 29 gene DOID:0111923 spermatogenic failure 42 ISO RGD:1605320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 42 PMID:31735292|PMID:31735294 11862450 TTC29 tetratricopeptide repeat domain 29 gene DOID:630 genetic disease ISO RGD:1605320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862487 ZNF610 zinc finger protein 610 gene DOID:630 genetic disease ISO RGD:1354121 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862530 ZNF684 zinc finger protein 684 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1601724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11862530 ZNF684 zinc finger protein 684 gene DOID:630 genetic disease ISO RGD:1601724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862567 CORT cortistatin gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:736209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11862567 CORT cortistatin gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:736209 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11862567 CORT cortistatin gene DOID:0111936 immunodeficiency 14 ISO RGD:736209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 11862567 CORT cortistatin gene DOID:630 genetic disease ISO RGD:736209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862578 ADNP2 ADNP homeobox 2 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1605090 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11862578 ADNP2 ADNP homeobox 2 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1605090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 11862578 ADNP2 ADNP homeobox 2 gene DOID:630 genetic disease ISO RGD:1605090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862578 ADNP2 ADNP homeobox 2 gene DOID:6420 pulmonary valve stenosis ISO RGD:1605090 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 11862578 ADNP2 ADNP homeobox 2 gene DOID:8445 intestinal volvulus ISO RGD:1605090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11862578 ADNP2 ADNP homeobox 2 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1605090 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 11862578 ADNP2 ADNP homeobox 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11862578 ADNP2 ADNP homeobox 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1605090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11862585 HAUS1 HAUS augmin like complex subunit 1 gene DOID:0060356 Vici syndrome ISO RGD:1346730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 11862585 HAUS1 HAUS augmin like complex subunit 1 gene DOID:1059 intellectual disability ISO RGD:1346730 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11862585 HAUS1 HAUS augmin like complex subunit 1 gene DOID:630 genetic disease ISO RGD:1346730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862585 HAUS1 HAUS augmin like complex subunit 1 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1346730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 11862601 CCDC50 coiled-coil domain containing 50 gene DOID:0050746 mantle cell lymphoma ISO RGD:1606954 D RGD:9068941 20200609 RGD PMID:19641524|REF_RGD_ID:9685139 11862601 CCDC50 coiled-coil domain containing 50 gene DOID:0110569 autosomal dominant nonsyndromic deafness 44 ISO RGD:1606954 D RGD:7240710 20180130 OMIM 11862601 CCDC50 coiled-coil domain containing 50 gene DOID:0110569 autosomal dominant nonsyndromic deafness 44 ISO RGD:1606954 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 44 PMID:12483295|PMID:17503326|PMID:24033266|PMID:24875298|PMID:25741868|PMID:28492532|PMID:30311386 11862601 CCDC50 coiled-coil domain containing 50 gene DOID:5419 schizophrenia ISO RGD:1606954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11862601 CCDC50 coiled-coil domain containing 50 gene DOID:630 genetic disease ISO RGD:1606954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 11862601 CCDC50 coiled-coil domain containing 50 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1606954 D RGD:9068941 20200609 RGD PMID:19641524|REF_RGD_ID:9685139 11862621 CD101 CD101 molecule gene DOID:630 genetic disease ISO RGD:1322923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862641 KIF2B kinesin family member 2B gene DOID:630 genetic disease ISO RGD:1351135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862660 FXN frataxin gene DOID:0111218 Friedreich ataxia 1 ISO RGD:1604403 D RGD:7240710 20180130 OMIM 11862660 FXN frataxin gene DOID:0111218 Friedreich ataxia 1 ISO RGD:1604403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Friedreich ataxia 1 PMID:25741868|PMID:26467025|PMID:34906502 11862660 FXN frataxin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1604403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:15936968|PMID:25741868 11862660 FXN frataxin gene DOID:12705 Friedreich ataxia ISO RGD:1604403 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Friedreich ataxia PMID:10543403|PMID:10732799|PMID:11020385|PMID:11030757|PMID:11843702|PMID:12019217|PMID:17331979|PMID:17703324|PMID:18537827|PMID:19494730|PMID:19629184|PMID:19775837|PMID:20162437|PMID:21298097|PMID:25566998|PMID:25741868|PMID:26301374|PMID:26339677|PMID:26467025|PMID:26704351|PMID:28812047|PMID:31980526|PMID:34747814|PMID:8596916|PMID:9090376|PMID:9150176|PMID:9700204|PMID:9737785|PMID:9989622 11862660 FXN frataxin gene DOID:630 genetic disease ISO RGD:1604403 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15936968|PMID:19852779|PMID:25741868|PMID:26467025|PMID:28492532 11862660 FXN frataxin gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:1604403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26954031 11862660 FXN frataxin gene DOID:9007692 Insulin Resistance ISO RGD:1604403 D RGD:9068941 20200609 RGD DNA:repeats:intron:GAA (human) PMID:10969848|REF_RGD_ID:2307049 11862660 FXN frataxin gene DOID:9351 diabetes mellitus ISO RGD:1551716 D RGD:9068941 20200609 RGD DNA:deletion:exon (mouse) PMID:12925693|REF_RGD_ID:2307048 11862660 FXN frataxin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604403 D RGD:9068941 20200609 RGD DNA:repeats:intron:GAA (human) PMID:9588463|REF_RGD_ID:2307050 11862660 FXN frataxin gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1604403 D RGD:9068941 20200609 RGD DNA:repeats:intron:GAA (human) PMID:10102715|REF_RGD_ID:2307051 11862660 FXN frataxin gene DOID:9970 obesity ISO RGD:1551716 D RGD:9068941 20200609 RGD DNA:deletion:exon (mouse) PMID:17404227|REF_RGD_ID:2307045 11862677 STX2 syntaxin 2 gene DOID:12336 male infertility ISO RGD:732157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18277055 11862677 STX2 syntaxin 2 gene DOID:630 genetic disease ISO RGD:732157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862697 THOC3 THO complex subunit 3 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1323248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11862697 THOC3 THO complex subunit 3 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1323248 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11862697 THOC3 THO complex subunit 3 gene DOID:630 genetic disease ISO RGD:1323248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862707 NELFB negative elongation factor complex member B gene DOID:0050777 Joubert syndrome ISO RGD:1603677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11862707 NELFB negative elongation factor complex member B gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1603677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 11862707 NELFB negative elongation factor complex member B gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1603677 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 11862707 NELFB negative elongation factor complex member B gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1603677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11862707 NELFB negative elongation factor complex member B gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1603677 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11862707 NELFB negative elongation factor complex member B gene DOID:0081097 Rafiq syndrome ISO RGD:1603677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11862707 NELFB negative elongation factor complex member B gene DOID:1826 epilepsy ISO RGD:1603677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11862707 NELFB negative elongation factor complex member B gene DOID:630 genetic disease ISO RGD:1603677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862707 NELFB negative elongation factor complex member B gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1603677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11862724 NCMAP non-compact myelin associated protein gene DOID:630 genetic disease ISO RGD:1606072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862732 RAB27A RAB27A, member RAS oncogene family gene DOID:0050120 hemophagocytic lymphohistiocytosis ISO RGD:1551470 D RGD:9068941 20220825 MouseDO 11862732 RAB27A RAB27A, member RAS oncogene family gene DOID:0060539 Hermansky-Pudlak syndrome 1 ISO RGD:1551470 D RGD:9068941 20220825 MouseDO OMIM:203300 11862732 RAB27A RAB27A, member RAS oncogene family gene DOID:0060831 Griscelli syndrome ISO RGD:1354398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Griscelli syndrome PMID:10835631|PMID:12148598|PMID:16551969|PMID:18350256|PMID:19953648|PMID:23160464|PMID:24033266|PMID:25741868|PMID:26684649|PMID:28492532 11862732 RAB27A RAB27A, member RAS oncogene family gene DOID:0060833 Griscelli syndrome type 2 ISO RGD:1354398 D RGD:7240710 20180130 OMIM 11862732 RAB27A RAB27A, member RAS oncogene family gene DOID:0060833 Griscelli syndrome type 2 ISO RGD:1354398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 2 PMID:10835631|PMID:12058346|PMID:12148598|PMID:12531900|PMID:12648328|PMID:15163896|PMID:15475639|PMID:16199547|PMID:16278825|PMID:16551969|PMID:17085000|PMID:17576681|PMID:18350256|PMID:18397837|PMID:18403584|PMID:19030707|PMID:19953648|PMID:22475297|PMID:23160464|PMID:24033266|PMID:24678334|PMID:25071262|PMID:25312756|PMID:25500851|PMID:25544030|PMID:25741868|PMID:25801174|PMID:25901543|PMID:26684649|PMID:26880764|PMID:27016801|PMID:27416802|PMID:27781387|PMID:28353193|PMID:28492532|PMID:28585352|PMID:28936583|PMID:29357941|PMID:29522846|PMID:30104219|PMID:30290665|PMID:30697212|PMID:30899265|PMID:30934652|PMID:31233462|PMID:32375849|PMID:32542393|PMID:32638196|PMID:32853466|PMID:32856792|PMID:32860008|PMID:32888943|PMID:32965739|PMID:33225392|PMID:33362801|PMID:34573280|PMID:34796988|PMID:8319705|PMID:9536098 11862732 RAB27A RAB27A, member RAS oncogene family gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1354398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children PMID:10835631|PMID:15163896|PMID:23160464|PMID:25741868|PMID:28492532 11862732 RAB27A RAB27A, member RAS oncogene family gene DOID:11054 urinary bladder cancer ISO RGD:1354398 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34291859 11862732 RAB27A RAB27A, member RAS oncogene family gene DOID:2223 platelet storage pool deficiency ISO RGD:1551470 D RGD:9068941 20220825 MouseDO OMIM:185050 11862732 RAB27A RAB27A, member RAS oncogene family gene DOID:2717 Bloom syndrome ISO RGD:1354398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11862732 RAB27A RAB27A, member RAS oncogene family gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1354398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10835631|PMID:15475639|PMID:16199547|PMID:16278825|PMID:18397837|PMID:19030707|PMID:19953648|PMID:23160464|PMID:24678334|PMID:25071262|PMID:25500851|PMID:25544030|PMID:25741868|PMID:25801174|PMID:26880764|PMID:27016801|PMID:27781387|PMID:28353193|PMID:28492532|PMID:29357941|PMID:29522846|PMID:30290665|PMID:32375849|PMID:32542393|PMID:32638196|PMID:32853466|PMID:32856792|PMID:32888943|PMID:32965739|PMID:34573280 11862732 RAB27A RAB27A, member RAS oncogene family gene DOID:4330 non-Langerhans-cell histiocytosis ISO RGD:1354398 D RGD:9068941 20200609 RGD Griscelli syndrome type 2, OMIM: 607624;DNA:point mutations:exon:L130P, A152P) PMID:12531900|REF_RGD_ID:1601587 11862732 RAB27A RAB27A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1354398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10835631|PMID:23160464|PMID:25741868|PMID:28492532|PMID:32375849|PMID:34796988 11862732 RAB27A RAB27A, member RAS oncogene family gene DOID:9000918 Disease Progression ISO RGD:1354398 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34291859 11862732 RAB27A RAB27A, member RAS oncogene family gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1354398 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34291859 11862732 RAB27A RAB27A, member RAS oncogene family gene DOID:9005660 Hypopigmentation ISO RGD:1354398 D RGD:9068941 20200609 RGD Griscelli syndrome type 2, OMIM: 607624;DNA:point mutations:exon:L130P, A152P) PMID:12531900|REF_RGD_ID:1601587 11862732 RAB27A RAB27A, member RAS oncogene family gene DOID:9005835 Congenital Abnormalities ISO RGD:1354398 D RGD:9068941 20200609 RGD Griscelli syndrome type I. OMIM:214450 PMID:12058346|REF_RGD_ID:1600821 11862732 RAB27A RAB27A, member RAS oncogene family gene DOID:9256 colorectal cancer ISO RGD:1354398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 11862749 ACOT8 acyl-CoA thioesterase 8 gene DOID:2234 focal epilepsy ISO RGD:70372 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11862749 ACOT8 acyl-CoA thioesterase 8 gene DOID:630 genetic disease ISO RGD:70372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862749 ACOT8 acyl-CoA thioesterase 8 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:70372 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11862762 AKAP1 A-kinase anchoring protein 1 gene DOID:0050777 Joubert syndrome ISO RGD:1343676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11862762 AKAP1 A-kinase anchoring protein 1 gene DOID:10283 prostate cancer ISO RGD:1343676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11862762 AKAP1 A-kinase anchoring protein 1 gene DOID:2316 brain ischemia ISO RGD:620826 D RGD:9068941 20200609 RGD protein:altered expression:parietal cortex, hippocampus (rat) PMID:18323779|REF_RGD_ID:2313128 11862762 AKAP1 A-kinase anchoring protein 1 gene DOID:630 genetic disease ISO RGD:1343676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862762 AKAP1 A-kinase anchoring protein 1 gene DOID:9970 obesity ISO RGD:1343676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20975297 11862784 ZCCHC3 zinc finger CCHC-type containing 3 gene DOID:630 genetic disease ISO RGD:1352502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862784 ZCCHC3 zinc finger CCHC-type containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11862789 PXMP4 peroxisomal membrane protein 4 gene DOID:2843 long QT syndrome ISO RGD:1348847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11862789 PXMP4 peroxisomal membrane protein 4 gene DOID:630 genetic disease ISO RGD:1348847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:0050451 Brugada syndrome ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:733435 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:25741868|PMID:28492532 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:0060320 inguinal hernia ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inguinal hernia PMID:25741868 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:733435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:0060797 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH HYPODONTIA AND HYPOGONADOTROPIC HYPOGONADISM PMID:25326637|PMID:28492532 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:733435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:0080006 bone development disease ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:0080324 tuberous sclerosis 1 ISO RGD:733435 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:0080333 aortic valve disease 1 ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic valve disease 1 PMID:25741868|PMID:28492532|PMID:30858776|PMID:31903434 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:733435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:0080726 Ehlers-Danlos syndrome classic type 2 ISO RGD:733435 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: EHLERS DANLOS SYNDROME, MITIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 PMID:25741868|PMID:28492532|PMID:32720758|PMID:32938213|PMID:33161638 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A PMID:10471441|PMID:10602121|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:17576681|PMID:19019335|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:24033266|PMID:24685354|PMID:24951259|PMID:25741868|PMID:26608033|PMID:26854089|PMID:27011056|PMID:28166811|PMID:28492532|PMID:29924831|PMID:30858776|PMID:9536098 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:733435 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A PMID:10471441|PMID:10602121|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:17576681|PMID:19019335|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:24033266|PMID:24685354|PMID:24951259|PMID:25741868|PMID:26608033|PMID:26854089|PMID:27011056|PMID:28492532|PMID:29924831|PMID:30858776|PMID:9536098 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:0081097 Rafiq syndrome ISO RGD:733435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:0110816 hereditary spastic paraplegia 7 ISO RGD:733435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia Paraplegin type PMID:25326637|PMID:28492532 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency ISO RGD:733435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 17 alpha ketosteroid reductase deficiency of testis PMID:25326637|PMID:25741868|PMID:28492532 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:10283 prostate cancer ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:11836 clubfoot ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:25741868 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:733435 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:10471441|PMID:10602121|PMID:10777716|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:16199547|PMID:16431952|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:23587214|PMID:24033266|PMID:25741868|PMID:26608033|PMID:26854089|PMID:28492532|PMID:28550590|PMID:29924831|PMID:30858776|PMID:31064749|PMID:32938213|PMID:33206719 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:733435 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10471441|PMID:10602121|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:16751282|PMID:17576681|PMID:19011090|PMID:19019335|PMID:19344236|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24088041|PMID:24951259|PMID:25741868|PMID:26608033|PMID:26633545|PMID:26854089|PMID:27011056|PMID:27959697|PMID:27975164|PMID:28166811|PMID:28454995|PMID:28492532|PMID:28550590|PMID:28748566|PMID:29578302|PMID:29924831|PMID:30467950|PMID:30858776|PMID:31064749|PMID:31625567|PMID:31903434|PMID:32938213|PMID:33206719|PMID:7695699|PMID:7749409|PMID:7929094|PMID:8218237|PMID:8349697|PMID:9536098 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:733435 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10471441|PMID:10602121|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:16751282|PMID:17576681|PMID:19011090|PMID:19019335|PMID:19344236|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24088041|PMID:24951259|PMID:25326637|PMID:25741868|PMID:26608033|PMID:26633545|PMID:26854089|PMID:27011056|PMID:27959697|PMID:27975164|PMID:28166811|PMID:28454995|PMID:28492532|PMID:28550590|PMID:28748566|PMID:29578302|PMID:29924831|PMID:30467950|PMID:30858776|PMID:31064749|PMID:31625567|PMID:31903434|PMID:32938213|PMID:33206719|PMID:7695699|PMID:7749409|PMID:7929094|PMID:8218237|PMID:8349697|PMID:9536098 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:733435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10471441|PMID:10602121|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:16751282|PMID:17576681|PMID:19011090|PMID:19019335|PMID:19344236|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24088041|PMID:24951259|PMID:25326637|PMID:25741868|PMID:26608033|PMID:26633545|PMID:26854089|PMID:27011056|PMID:27959697|PMID:27975164|PMID:28454995|PMID:28492532|PMID:28550590|PMID:28748566|PMID:29578302|PMID:29924831|PMID:30467950|PMID:30858776|PMID:31064749|PMID:31625567|PMID:31903434|PMID:32938213|PMID:33206719|PMID:7695699|PMID:7749409|PMID:7929094|PMID:8218237|PMID:8349697|PMID:9536098 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:14323 Marfan syndrome ISO RGD:733435 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733435 D RGD:7240710 20180711 OMIM 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733435 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:10471441|PMID:10602121|PMID:10777716|PMID:10796876|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15264295|PMID:15580559|PMID:16199547|PMID:16751282|PMID:17576681|PMID:18972565|PMID:19011090|PMID:19019335|PMID:19344236|PMID:19370768|PMID:20301422|PMID:20635400|PMID:20979576|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24088041|PMID:24685354|PMID:24951259|PMID:25640679|PMID:25741868|PMID:26608033|PMID:26633545|PMID:26854089|PMID:27011056|PMID:28166811|PMID:28454995|PMID:28492532|PMID:28550590|PMID:29924831|PMID:30858776|PMID:31064749|PMID:31141158|PMID:31903434|PMID:32581362|PMID:32720758|PMID:32938213|PMID:35723357|PMID:7695699|PMID:8218237|PMID:8575750|PMID:8923000|PMID:8950675|PMID:9042913|PMID:9536098|PMID:9683580 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733435 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:10471441|PMID:10602121|PMID:10777716|PMID:10796876|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15264295|PMID:15580559|PMID:16199547|PMID:16751282|PMID:17576681|PMID:18972565|PMID:19011090|PMID:19019335|PMID:19344236|PMID:19370768|PMID:20301422|PMID:20635400|PMID:20979576|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24088041|PMID:24685354|PMID:24951259|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26608033|PMID:26633545|PMID:26854089|PMID:27011056|PMID:28166811|PMID:28454995|PMID:28492532|PMID:28550590|PMID:29924831|PMID:30858776|PMID:31064749|PMID:31141158|PMID:31903434|PMID:32581362|PMID:32720758|PMID:32938213|PMID:35723357|PMID:7695699|PMID:8218237|PMID:8575750|PMID:8923000|PMID:8950675|PMID:9042913|PMID:9536098|PMID:9683580 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:10471441|PMID:10602121|PMID:10777716|PMID:10796876|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15264295|PMID:15580559|PMID:16199547|PMID:16431952|PMID:16751282|PMID:17576681|PMID:18972565|PMID:19011090|PMID:19019335|PMID:19344236|PMID:19370768|PMID:20301422|PMID:20635400|PMID:20979576|PMID:21611149|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24088041|PMID:24685354|PMID:24951259|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26188975|PMID:26608033|PMID:26633545|PMID:26854089|PMID:27011056|PMID:27959697|PMID:27975164|PMID:28454995|PMID:28485813|PMID:28492532|PMID:28550590|PMID:28714197|PMID:28748566|PMID:29578302|PMID:29907982|PMID:29924831|PMID:30467950|PMID:30858776|PMID:31064749|PMID:31141158|PMID:31625567|PMID:31660461|PMID:31903434|PMID:32581362|PMID:32720758|PMID:32766464|PMID:32938213|PMID:33161638|PMID:33206719|PMID:33656776|PMID:33834621|PMID:35723357|PMID:7695699|PMID:8218237|PMID:8575750|PMID:8923000|PMID:8950675|PMID:9042913|PMID:9536098|PMID:9683580 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:2213 hemorrhagic disease ISO RGD:733435 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532|PMID:29924831|PMID:31064749|PMID:32938213 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:305 carcinoma ISO RGD:733435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:3627 aortic aneurysm ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic dilatation 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:3652 Leigh disease ISO RGD:733435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:630 genetic disease ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:65 connective tissue disease ISO RGD:733435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:10602121|PMID:10946364|PMID:11992482|PMID:15580559|PMID:17576681|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:24033266|PMID:25741868|PMID:27975164|PMID:28492532|PMID:28550590|PMID:29924831|PMID:30858776|PMID:31903434|PMID:9536098 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:9000058 Keloid ISO RGD:733435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:9000064 Cardiac Arrhythmias ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:9000348 Confusion ISO RGD:733435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Confusion PMID:25741868|PMID:28492532 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:9001752 Shoulder Dislocation ISO RGD:733435 D RGD:8554872 20220517 ClinVar ClinVar Annotator: match by term: Shoulder subluxation 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:9002304 Prostatic Neoplasms ISO RGD:733435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:9003133 Hypertelorism ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:733435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:9003323 Multifocal Fibromuscular Dysplasia ISO RGD:733435 D RGD:7240710 20210526 OMIM 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:9003323 Multifocal Fibromuscular Dysplasia ISO RGD:733435 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL PMID:10471441|PMID:10602121|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:19019335|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:24033266|PMID:24951259|PMID:25741868|PMID:26608033|PMID:27975164|PMID:28492532|PMID:29578302|PMID:32938213 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:733435 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:9005077 Joint Instability ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:25741868 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:733435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:28492532|PMID:29907982 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:9007096 Stroke ISO RGD:733435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stroke PMID:19344236|PMID:22696272|PMID:23587214|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237 11862803 COL5A1 collagen type V alpha 1 chain gene DOID:9008810 Spontaneous Rupture ISO RGD:733435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20635400 11862872 FCHO1 FCH and mu domain containing endocytic adaptor 1 gene DOID:0050590 severe congenital neutropenia ISO RGD:1317013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe congenital neutropenia PMID:30822429|PMID:32098969 11862872 FCHO1 FCH and mu domain containing endocytic adaptor 1 gene DOID:10316 pneumoconiosis ISO RGD:1317013 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 11862872 FCHO1 FCH and mu domain containing endocytic adaptor 1 gene DOID:630 genetic disease ISO RGD:1317013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11862872 FCHO1 FCH and mu domain containing endocytic adaptor 1 gene DOID:9003039 Immunodeficiency 76 ISO RGD:1317013 D RGD:7240710 20210303 OMIM 11862872 FCHO1 FCH and mu domain containing endocytic adaptor 1 gene DOID:9003039 Immunodeficiency 76 ISO RGD:1317013 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency 76 PMID:25741868|PMID:28492532|PMID:30822429|PMID:32098969 11862903 CHCHD6 coiled-coil-helix-coiled-coil-helix domain containing 6 gene DOID:630 genetic disease ISO RGD:1312070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862903 CHCHD6 coiled-coil-helix-coiled-coil-helix domain containing 6 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1312070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 11862903 CHCHD6 coiled-coil-helix-coiled-coil-helix domain containing 6 gene DOID:9270 alkaptonuria ISO RGD:1312070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11862915 FAM83F family with sequence similarity 83 member F gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1602306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11862915 FAM83F family with sequence similarity 83 member F gene DOID:14228 oligospermia ISO RGD:1602306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oligozoospermia PMID:25741868 11862915 FAM83F family with sequence similarity 83 member F gene DOID:630 genetic disease ISO RGD:1602306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11862915 FAM83F family with sequence similarity 83 member F gene DOID:9002321 Teratozoospermia ISO RGD:1602306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Teratozoospermia PMID:25741868 11862923 TBC1D24 TBC1 domain family member 24 gene DOID:0050563 nonsyndromic deafness ISO RGD:1606524 D RGD:9068941 20200609 RGD DNA:mutations:cds:c.457G>A(p.E53K),c.641G>A(p.R214H),c.1316delT(p.V439Vfs32)(human) PMID:26371875|REF_RGD_ID:11098120 11862923 TBC1D24 TBC1 domain family member 24 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1606524 D RGD:9068941 20200609 RGD DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human) PMID:23526554|REF_RGD_ID:11537471 11862923 TBC1D24 TBC1 domain family member 24 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1606524 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy PMID:27541164|PMID:28492532|PMID:28663785|PMID:31112829 11862923 TBC1D24 TBC1 domain family member 24 gene DOID:0080449 developmental and epileptic encephalopathy 16 ISO RGD:1606524 D RGD:7240710 20180130 OMIM 11862923 TBC1D24 TBC1 domain family member 24 gene DOID:0080449 developmental and epileptic encephalopathy 16 ISO RGD:1606524 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 16 PMID:23526554|PMID:23806086|PMID:24033266|PMID:24088043|PMID:24291220|PMID:25169651|PMID:25401298|PMID:25719194|PMID:25741868|PMID:25769375|PMID:26371875|PMID:27281533|PMID:27784474|PMID:28292732|PMID:28428906|PMID:28492532|PMID:30335140|PMID:31112829|PMID:31780880 11862923 TBC1D24 TBC1 domain family member 24 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1606524 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-linked infantile spasms PMID:10574461|PMID:10741954|PMID:16199547|PMID:16855591|PMID:17576681|PMID:18414213|PMID:20727515|PMID:22277662|PMID:23184456|PMID:23526554|PMID:23806086|PMID:24033266|PMID:24088043|PMID:24291220|PMID:24387994|PMID:24848745|PMID:25169651|PMID:25401298|PMID:25557349|PMID:25719194|PMID:25741868|PMID:25769375|PMID:26207815|PMID:26371875|PMID:26467025|PMID:26668325|PMID:27259978|PMID:27281533|PMID:27502353|PMID:27541164|PMID:27669036|PMID:27784474|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:28663785|PMID:29100083|PMID:29358611|PMID:29655203|PMID:29671961|PMID:30108545|PMID:30139988|PMID:30180405|PMID:30311386|PMID:30335140|PMID:30776697|PMID:31112829|PMID:31257402|PMID:31780880|PMID:32369273|PMID:32581362|PMID:9536098 11862923 TBC1D24 TBC1 domain family member 24 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1606524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-linked infantile spasms PMID:10574461|PMID:10741954|PMID:16199547|PMID:16855591|PMID:17576681|PMID:18414213|PMID:20727515|PMID:22277662|PMID:23184456|PMID:23526554|PMID:23806086|PMID:24033266|PMID:24088043|PMID:24291220|PMID:24387994|PMID:24848745|PMID:25169651|PMID:25326637|PMID:25401298|PMID:25557349|PMID:25719194|PMID:25741868|PMID:25769375|PMID:26207815|PMID:26371875|PMID:26467025|PMID:26668325|PMID:27259978|PMID:27281533|PMID:27502353|PMID:27541164|PMID:27669036|PMID:27784474|PMID:28072960|PMID:28252636|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:28663785|PMID:29100083|PMID:29358611|PMID:29429257|PMID:29655203|PMID:29671961|PMID:29933521|PMID:30108545|PMID:30139988|PMID:30180405|PMID:30311386|PMID:30335140|PMID:30680869|PMID:30776697|PMID:30866059|PMID:31112829|PMID:31257402|PMID:31780880|PMID:31922275|PMID:32369273|PMID:32581362|PMID:33281559|PMID:33333793|PMID:9536098 11862923 TBC1D24 TBC1 domain family member 24 gene DOID:0080855 Parkinsonism ISO RGD:1606524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinsonism PMID:25741868|PMID:27541164|PMID:28492532|PMID:28663785|PMID:29429257|PMID:29933521|PMID:31112829 11862923 TBC1D24 TBC1 domain family member 24 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1606524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11862923 TBC1D24 TBC1 domain family member 24 gene DOID:0110532 autosomal recessive nonsyndromic deafness 86 ISO RGD:1606524 D RGD:7240710 20180130 OMIM 11862923 TBC1D24 TBC1 domain family member 24 gene DOID:0110532 autosomal recessive nonsyndromic deafness 86 ISO RGD:1606524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 86 PMID:22211675|PMID:22277662|PMID:24033266|PMID:24387994|PMID:24729539|PMID:24729547|PMID:24824130|PMID:24848745|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:29358611 11862923 TBC1D24 TBC1 domain family member 24 gene DOID:0110586 autosomal dominant nonsyndromic deafness 65 ISO RGD:1606524 D RGD:7240710 20180130 OMIM 11862923 TBC1D24 TBC1 domain family member 24 gene DOID:0110586 autosomal dominant nonsyndromic deafness 65 ISO RGD:1606524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 65 PMID:22277662|PMID:23526554|PMID:23806086|PMID:24033266|PMID:24088043|PMID:24291220|PMID:24729539|PMID:24729547|PMID:24848745|PMID:25169651|PMID:25557349|PMID:25719194|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:27502353|PMID:27669036|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:28663785|PMID:29100083|PMID:29358611|PMID:30311386|PMID:31112829|PMID:33281559 11862923 TBC1D24 TBC1 domain family member 24 gene DOID:0111448 progressive myoclonus epilepsy 1B ISO RGD:1606524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B PMID:25401298|PMID:25741868|PMID:27281533|PMID:28492532|PMID:30335140 11862923 TBC1D24 TBC1 domain family member 24 gene DOID:0111627 DOORS syndrome ISO RGD:1606524 D RGD:7240710 20180130 OMIM 11862923 TBC1D24 TBC1 domain family member 24 gene DOID:0111627 DOORS syndrome ISO RGD:1606524 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME | ClinVar Annotator: match by term: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME | ClinVar Annotator: match by term: DOORS syndrome PMID:20727515|PMID:22211675|PMID:23526554|PMID:23806086|PMID:24033266|PMID:24088043|PMID:24291220|PMID:24387994|PMID:24729539|PMID:24729547|PMID:24824130|PMID:25169651|PMID:25557349|PMID:25719194|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26668325|PMID:27281533|PMID:27502353|PMID:27541164|PMID:27669036|PMID:28292732|PMID:28428906|PMID:28492532|PMID:28663785|PMID:29100083|PMID:30335140|PMID:31112829|PMID:31257402|PMID:31780880 11862923 TBC1D24 TBC1 domain family member 24 gene DOID:0111645 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome ISO RGD:1606524 D RGD:7240710 20190821 OMIM 11862923 TBC1D24 TBC1 domain family member 24 gene DOID:0111645 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome ISO RGD:1606524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome PMID:10072049|PMID:18414213|PMID:20727515|PMID:23526554|PMID:24033266|PMID:24291220|PMID:24387994|PMID:25741868|PMID:26467025|PMID:27281533|PMID:28492532|PMID:30108545|PMID:30311386|PMID:31112829|PMID:31257402|PMID:31922275|PMID:32581362 11862923 TBC1D24 TBC1 domain family member 24 gene DOID:1059 intellectual disability ISO RGD:1606524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24291220|PMID:25401298|PMID:25741868|PMID:27281533|PMID:28492532|PMID:30335140 11862923 TBC1D24 TBC1 domain family member 24 gene DOID:11832 visual epilepsy ISO RGD:1606524 D RGD:9068941 20220728 RGD DNA:mutation:cds:c.751T>C(p.F251L)(human) PMID:20797691|REF_RGD_ID:11537393 11862923 TBC1D24 TBC1 domain family member 24 gene DOID:1826 epilepsy ISO RGD:1606524 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:24033266|PMID:25741868|PMID:28492532 11862923 TBC1D24 TBC1 domain family member 24 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1606524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11862923 TBC1D24 TBC1 domain family member 24 gene DOID:308 early myoclonic encephalopathy ISO RGD:1606524 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile PMID:22277662|PMID:24033266|PMID:24291220|PMID:24848745|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:29358611|PMID:30311386 11862923 TBC1D24 TBC1 domain family member 24 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1606524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:24033266|PMID:26467025|PMID:28492532|PMID:29358611 11862923 TBC1D24 TBC1 domain family member 24 gene DOID:630 genetic disease ISO RGD:1606524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10574461|PMID:16855591|PMID:17576681|PMID:18414213|PMID:20727515|PMID:22277662|PMID:23526554|PMID:23806086|PMID:24033266|PMID:24088043|PMID:24291220|PMID:24387994|PMID:24848745|PMID:25169651|PMID:25557349|PMID:25719194|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26467025|PMID:26668325|PMID:27259978|PMID:27281533|PMID:27502353|PMID:27669036|PMID:28252636|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:28663785|PMID:29100083|PMID:29358611|PMID:29671961|PMID:30139988|PMID:30311386|PMID:30335140|PMID:31112829|PMID:31780880|PMID:31922275|PMID:9536098 11862923 TBC1D24 TBC1 domain family member 24 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1606524 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 11862923 TBC1D24 TBC1 domain family member 24 gene DOID:9000307 Presbycusis ISO RGD:1606524 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.533C>T (p.S178L)(human) PMID:24729539|REF_RGD_ID:11537394 11862923 TBC1D24 TBC1 domain family member 24 gene DOID:9006534 Nervous System Malformations ISO RGD:1606524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:24291220|PMID:25401298|PMID:25741868|PMID:27281533|PMID:27669036|PMID:28492532|PMID:30335140|PMID:31112829|PMID:31257402|PMID:33333793 11862923 TBC1D24 TBC1 domain family member 24 gene DOID:9007063 Myoclonic Epilepsy, Familial Infantile ISO RGD:1606524 D RGD:7240710 20180130 OMIM 11862923 TBC1D24 TBC1 domain family member 24 gene DOID:9007063 Myoclonic Epilepsy, Familial Infantile ISO RGD:1606524 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy PMID:10574461|PMID:10741954|PMID:18414213|PMID:20727515|PMID:20797691|PMID:22277662|PMID:24033266|PMID:24291220|PMID:24848745|PMID:25741868|PMID:25769375|PMID:26207815|PMID:26371875|PMID:26467025|PMID:26668325|PMID:27259978|PMID:27281533|PMID:27784474|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:29358611|PMID:29671961|PMID:30180405|PMID:30311386|PMID:30335140|PMID:31112829 11862923 TBC1D24 TBC1 domain family member 24 gene DOID:9008086 Developmental Disabilities ISO RGD:1606524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:31922275|PMID:32581362 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1347433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1347433 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:19380626|PMID:25741868 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1347433 D RGD:9068941 20200609 RGD DNA:missense mutations, SNPs:exon, intron:multiple PMID:21511817|REF_RGD_ID:7247446 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1347433 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:25741868|PMID:28492532 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:0111129 focal segmental glomerulosclerosis 2 ISO RGD:1347433 D RGD:7240710 20180130 OMIM 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:0111129 focal segmental glomerulosclerosis 2 ISO RGD:1347433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 2 PMID:10200986|PMID:15879175|PMID:15924139|PMID:16932363|PMID:19129465|PMID:19380626|PMID:19458060|PMID:19936226|PMID:21734084|PMID:22732337|PMID:22980509|PMID:2298509|PMID:23291369|PMID:23645677|PMID:25019165|PMID:25741868|PMID:26127002|PMID:26467025|PMID:26892346|PMID:27573339|PMID:28117080|PMID:28166811|PMID:28204945|PMID:28492532|PMID:28780565|PMID:28921387|PMID:29127259|PMID:30295827|PMID:30655312|PMID:31937884|PMID:33532864|PMID:33884742 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:1059 intellectual disability ISO RGD:1347433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:1184 nephrotic syndrome ISO RGD:1347433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:15924139|PMID:19129465|PMID:21734084|PMID:23645677|PMID:25741868|PMID:26467025|PMID:26892346|PMID:28117080|PMID:28204945|PMID:28492532|PMID:28921387|PMID:29127259|PMID:30295827|PMID:30655312|PMID:31937884|PMID:33884742 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:12704 ataxia telangiectasia ISO RGD:1347433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1347433 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:19936226|PMID:22980509|PMID:25019165|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32581362 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:1312 focal segmental glomerulosclerosis treatment ISO RGD:1347433 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.P15S (human) PMID:22980509|REF_RGD_ID:7247444 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:1312 focal segmental glomerulosclerosis treatment ISO RGD:619788 D RGD:9068941 20200609 RGD PMID:21839714|PMID:23385000|REF_RGD_ID:7247440|REF_RGD_ID:7247445 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:150 disease of mental health ISO RGD:1347433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21059368 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:224 transient cerebral ischemia ISO RGD:732721 D RGD:9068941 20200609 RGD PMID:23043486|REF_RGD_ID:7247583 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:224 transient cerebral ischemia treatment ISO RGD:619788 D RGD:9068941 20200609 RGD PMID:20811149|PMID:23435869|REF_RGD_ID:7247582|REF_RGD_ID:7247585 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:557 kidney disease ISO RGD:1347433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:557 kidney disease treatment ISO RGD:619788 D RGD:9068941 20200609 RGD PMID:23535151|REF_RGD_ID:7247439 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:576 proteinuria ISO RGD:619788 D RGD:9068941 20230128 RGD mRNA:increased expression:glomerular podocytes (rat) PMID:31784544|REF_RGD_ID:155882534 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:576 proteinuria ISO RGD:736283 D RGD:9068941 20200609 RGD PMID:23385000|REF_RGD_ID:7247440 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:630 genetic disease ISO RGD:1347433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:6432 pulmonary hypertension ISO RGD:1347433 D RGD:9068941 20200609 RGD PMID:15358862|REF_RGD_ID:1580490 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:8544 chronic fatigue syndrome ISO RGD:1347433 D RGD:9068941 20201203 RGD DNA:SNPs: : PMID:27834303|REF_RGD_ID:40886272 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:9000040 Hypertrophy ISO RGD:1347433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20177073 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:9000854 Lethal Congenital Contracture Syndrome 7 ISO RGD:1347433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 7 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:9001542 Albuminuria ISO RGD:1557692 D RGD:9068941 20200609 RGD PMID:21839714|REF_RGD_ID:7247445 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:9001542 Albuminuria ISO RGD:619788 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA:decreased expression:kidney cortex PMID:19887786|REF_RGD_ID:7247603 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:9002165 Diabetic Nephropathies induces ISO XCO:0000245,XCO:0000241 D RGD:9068941 20210730 RGD PMID:29923767|REF_RGD_ID:149735534 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:619788 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22673147|REF_RGD_ID:7247584 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:9002174 Disease Susceptibility ISO RGD:1347433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20130021 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:9002211 Hyperalgesia ISO RGD:619788 D RGD:9068941 20200609 RGD PMID:19439599|REF_RGD_ID:7247605 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:619788 D RGD:9068941 20230128 RGD mRNA:increased expression:glomerular podocytes (rat) PMID:31784544|REF_RGD_ID:155882534 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:9003936 Cardiomegaly ISO RGD:732721 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:23212367|REF_RGD_ID:7247443 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:9004009 Reperfusion Injury treatment ISO RGD:619788 D RGD:9068941 20200609 RGD PMID:20554625|REF_RGD_ID:4891135 11862944 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:9352 type 2 diabetes mellitus ISO RGD:619788 D RGD:9068941 20200609 RGD protein:increased expression:artery smooth muscle PMID:20337661|REF_RGD_ID:7247596 11862966 TNP1 transition protein 1 gene DOID:630 genetic disease ISO RGD:733923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862966 TNP1 transition protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11862973 JAZF1 JAZF zinc finger 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11862973 JAZF1 JAZF zinc finger 1 gene DOID:630 genetic disease ISO RGD:1604718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11862973 JAZF1 JAZF zinc finger 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18264096 11862973 JAZF1 JAZF zinc finger 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1604718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18264096 11862973 JAZF1 JAZF zinc finger 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1604718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838195 11862973 JAZF1 JAZF zinc finger 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18372903 11862997 HIVEP3 HIVEP zinc finger 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1322610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11862997 HIVEP3 HIVEP zinc finger 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11863013 GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 gene DOID:0060041 autism spectrum disorder ISO RGD:733632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 11863013 GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:733632 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 11863013 GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 gene DOID:11983 Prader-Willi syndrome ISO RGD:733632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 11863013 GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 gene DOID:12849 autistic disorder ISO RGD:733632 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 11863013 GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 gene DOID:1932 Angelman syndrome ISO RGD:733632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:24088041|PMID:25741868|PMID:26633545 11863013 GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 gene DOID:5419 schizophrenia ISO RGD:733632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11863013 GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 gene DOID:630 genetic disease ISO RGD:733632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11863013 GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 gene DOID:9000998 Brain Injuries ISO RGD:733632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 11863013 GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11863013 GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 gene DOID:9004864 Isodicentric Chromosome 15 Syndrome ISO RGD:733632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23663378 11863013 GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 gene DOID:9009060 Childhood Absence Epilepsy 1 ISO RGD:733632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 PMID:11198279|PMID:26068938|PMID:26950270|PMID:28053010|PMID:28492532 11863026 SLC35D2 solute carrier family 35 member D2 gene DOID:1059 intellectual disability ISO RGD:1319900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11863026 SLC35D2 solute carrier family 35 member D2 gene DOID:630 genetic disease ISO RGD:1319900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11863042 RFTN1 raftlin, lipid raft linker 1 gene DOID:0060417 3p deletion syndrome ISO RGD:1604380 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 11863042 RFTN1 raftlin, lipid raft linker 1 gene DOID:1686 glaucoma ISO RGD:1563347 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (rat) PMID:28990066|REF_RGD_ID:155630605 11863042 RFTN1 raftlin, lipid raft linker 1 gene DOID:1686 glaucoma ISO RGD:1604380 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (human) PMID:28990066|REF_RGD_ID:155630605 11863042 RFTN1 raftlin, lipid raft linker 1 gene DOID:630 genetic disease ISO RGD:1604380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11863060 SFMBT1 Scm like with four mbt domains 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1343140 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 11863089 DDX25 DEAD-box helicase 25 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1353633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11863089 DDX25 DEAD-box helicase 25 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1353633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11863089 DDX25 DEAD-box helicase 25 gene DOID:14227 azoospermia ISO RGD:1353633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 11863089 DDX25 DEAD-box helicase 25 gene DOID:5419 schizophrenia ISO RGD:1353633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11863089 DDX25 DEAD-box helicase 25 gene DOID:630 genetic disease ISO RGD:1353633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11863089 DDX25 DEAD-box helicase 25 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1353633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11863089 DDX25 DEAD-box helicase 25 gene DOID:9007661 Dwarfism ISO RGD:1353633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11863110 HABP4 hyaluronan binding protein 4 gene DOID:1059 intellectual disability ISO RGD:1315131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11863110 HABP4 hyaluronan binding protein 4 gene DOID:630 genetic disease ISO RGD:1315131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11863123 GNA12 G protein subunit alpha 12 gene DOID:0111957 immunodeficiency 11A ISO RGD:732491 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency PMID:28492532 11863123 GNA12 G protein subunit alpha 12 gene DOID:630 genetic disease ISO RGD:732491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11863123 GNA12 G protein subunit alpha 12 gene DOID:8577 ulcerative colitis ISO RGD:732491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297633 11863123 GNA12 G protein subunit alpha 12 gene DOID:9007102 Myocardial Ischemia ISO RGD:732491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11863131 LMAN2L lectin, mannose binding 2 like gene DOID:0081215 autosomal recessive intellectual developmental disorder 52 ISO RGD:1322831 D RGD:7240710 20190315 OMIM 11863131 LMAN2L lectin, mannose binding 2 like gene DOID:0081215 autosomal recessive intellectual developmental disorder 52 ISO RGD:1322831 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 52 PMID:25741868|PMID:26566883 11863131 LMAN2L lectin, mannose binding 2 like gene DOID:1059 intellectual disability ISO RGD:1322831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11863131 LMAN2L lectin, mannose binding 2 like gene DOID:3312 bipolar disorder ISO RGD:1322831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 11863131 LMAN2L lectin, mannose binding 2 like gene DOID:4450 renal cell carcinoma ISO RGD:1322831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 11863131 LMAN2L lectin, mannose binding 2 like gene DOID:5419 schizophrenia ISO RGD:1322831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11863131 LMAN2L lectin, mannose binding 2 like gene DOID:630 genetic disease ISO RGD:1322831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11863131 LMAN2L lectin, mannose binding 2 like gene DOID:9003904 Autosomal Dominant Intellectual Developmental Disorder 69 ISO RGD:1322831 D RGD:7240710 20220720 OMIM 11863131 LMAN2L lectin, mannose binding 2 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322831 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11863145 MOB3C MOB kinase activator 3C gene DOID:630 genetic disease ISO RGD:1317238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11863160 GOLM2 golgi membrane protein 2 gene DOID:2717 Bloom syndrome ISO RGD:1603284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11863160 GOLM2 golgi membrane protein 2 gene DOID:630 genetic disease ISO RGD:1603284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11863160 GOLM2 golgi membrane protein 2 gene DOID:9256 colorectal cancer ISO RGD:1603284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11863185 FN3K fructosamine 3 kinase gene DOID:630 genetic disease ISO RGD:1350348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11863195 SBF2 SET binding factor 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1354184 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:10932274|PMID:12687498|PMID:15304601|PMID:16199547|PMID:17576681|PMID:25741868|PMID:25873783|PMID:26392352|PMID:26467025|PMID:27582484|PMID:28492532|PMID:32376792|PMID:9536098 11863195 SBF2 SET binding factor 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1354184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10932274|PMID:12687498|PMID:15304601|PMID:15477569|PMID:16199547|PMID:17576681|PMID:24290377|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25873783|PMID:26392352|PMID:26467025|PMID:27582484|PMID:28492532|PMID:31070812|PMID:32376792|PMID:34169998|PMID:9536098 11863195 SBF2 SET binding factor 2 gene DOID:0110190 Charcot-Marie-Tooth disease type 4B2 ISO RGD:1354184 D RGD:7240710 20180130 OMIM 11863195 SBF2 SET binding factor 2 gene DOID:0110190 Charcot-Marie-Tooth disease type 4B2 ISO RGD:1354184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma PMID:10932274|PMID:12554688|PMID:12687498|PMID:15304601|PMID:15477569|PMID:17576681|PMID:24290377|PMID:25025039|PMID:25741868|PMID:25873783|PMID:26392352|PMID:26467025|PMID:27582484|PMID:28492532|PMID:31673878|PMID:32376792|PMID:34169998|PMID:9521281|PMID:9536098 11863195 SBF2 SET binding factor 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1354184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10932274|PMID:12687498|PMID:15304601|PMID:15477569|PMID:17576681|PMID:21840889|PMID:24627108|PMID:25231362|PMID:25741868|PMID:25873783|PMID:26467025|PMID:28492532|PMID:31070812|PMID:32376792|PMID:34169998|PMID:9521281|PMID:9536098 11863195 SBF2 SET binding factor 2 gene DOID:574 peripheral nervous system disease ISO RGD:1354184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:26392352|PMID:26467025|PMID:27582484|PMID:28492532 11863195 SBF2 SET binding factor 2 gene DOID:630 genetic disease ISO RGD:1354184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:24290377|PMID:25025039|PMID:25741868|PMID:26392352|PMID:26467025|PMID:27582484|PMID:28492532|PMID:32376792|PMID:34169998|PMID:9536098 11863195 SBF2 SET binding factor 2 gene DOID:870 neuropathy ISO RGD:1354184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:26392352|PMID:26467025|PMID:27582484|PMID:28492532 11863243 NUP93 nucleoporin 93 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1323029 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11863243 NUP93 nucleoporin 93 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1323029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26878725 11863243 NUP93 nucleoporin 93 gene DOID:0080387 nephrotic syndrome type 12 ISO RGD:1323029 D RGD:7240710 20190315 OMIM 11863243 NUP93 nucleoporin 93 gene DOID:0080387 nephrotic syndrome type 12 ISO RGD:1323029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 12 PMID:25741868|PMID:26878725|PMID:28492532|PMID:29127259|PMID:33532864 11863243 NUP93 nucleoporin 93 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1323029 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11863243 NUP93 nucleoporin 93 gene DOID:1184 nephrotic syndrome ISO RGD:1323029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:26878725|PMID:28492532|PMID:29127259|PMID:30655312|PMID:33532864 11863243 NUP93 nucleoporin 93 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1323029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:32581362 11863243 NUP93 nucleoporin 93 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1323029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11863243 NUP93 nucleoporin 93 gene DOID:630 genetic disease ISO RGD:1323029 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11863269 LIMCH1 LIM and calponin homology domains 1 gene DOID:1790 malignant mesothelioma ISO RGD:1604823 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 11863269 LIMCH1 LIM and calponin homology domains 1 gene DOID:303 substance-related disorder ISO RGD:1604823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11863269 LIMCH1 LIM and calponin homology domains 1 gene DOID:630 genetic disease ISO RGD:1604823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11863269 LIMCH1 LIM and calponin homology domains 1 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1604823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 11863331 ACKR4 atypical chemokine receptor 4 gene DOID:12712 nephronophthisis ISO RGD:1602221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 11863331 ACKR4 atypical chemokine receptor 4 gene DOID:630 genetic disease ISO RGD:1602221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11863331 ACKR4 atypical chemokine receptor 4 gene DOID:9003281 Spontaneous Abortions ISO RGD:1602221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11863331 ACKR4 atypical chemokine receptor 4 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1602221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 11863331 ACKR4 atypical chemokine receptor 4 gene DOID:9270 alkaptonuria ISO RGD:1602221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11863337 TRIM16 tripartite motif containing 16 gene DOID:630 genetic disease ISO RGD:1348776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11863337 TRIM16 tripartite motif containing 16 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1348776 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35442568 11863338 LOC100989032 olfactory receptor 9A2 gene DOID:630 genetic disease ISO RGD:1348029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11863341 HYPK huntingtin interacting protein K gene DOID:2717 Bloom syndrome ISO RGD:1604376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11863341 HYPK huntingtin interacting protein K gene DOID:630 genetic disease ISO RGD:1604376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11863341 HYPK huntingtin interacting protein K gene DOID:9256 colorectal cancer ISO RGD:1604376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:0050328 congenital hypothyroidism ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebellum (rat) PMID:20515651|REF_RGD_ID:10059677 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:0050700 cardiomyopathy ISO RGD:1332548 D RGD:9068941 20220825 MouseDO 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:0050855 renal fibrosis ISO RGD:620925 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction; mRNA:decreased expression:kidney (rat) PMID:21784897|REF_RGD_ID:7242027 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:0060180 colitis ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:22126533|REF_RGD_ID:6484264 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:0060611 abdominal obesity-metabolic syndrome ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA:increased expression:gastrocnemius muscle (rat) PMID:23320128|REF_RGD_ID:7241841 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:21373642|REF_RGD_ID:6484527 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:1342674 D RGD:9068941 20200609 RGD associated with Obesity; DNA:missense mutation:cds:p.G482S rs8192678 (human) PMID:23269818|REF_RGD_ID:7241847 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:0080855 Parkinsonism ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:21376232|PMID:22040668|PMID:22246294|REF_RGD_ID:6484262|REF_RGD_ID:6484267|REF_RGD_ID:6484271 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:1342674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:10376 amblyopia ISO RGD:620925 D RGD:9068941 20200609 RGD protein:decreased expression:visual cortex (rat) PMID:20438809|REF_RGD_ID:10059668 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:10603 glucose intolerance ISO RGD:1332548 D RGD:9068941 20200609 RGD mRNA:decreased expression:quadriceps muscle (mouse) PMID:19158402|REF_RGD_ID:7242049 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:10652 Alzheimer's disease ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:22540007|REF_RGD_ID:6484260 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:10652 Alzheimer's disease ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:22510382|REF_RGD_ID:7242180 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:1342674 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:hippocampal formation (human) PMID:19273754|REF_RGD_ID:7242017 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:1074 kidney failure ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:22076434|REF_RGD_ID:7242044 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:10871 age related macular degeneration ISO RGD:1332548 D RGD:9068941 20220825 MouseDO 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:114 heart disease ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:23533487|REF_RGD_ID:7242188 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:11446 sciatic neuropathy ISO RGD:620925 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22996345|REF_RGD_ID:7242051 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:11716 prediabetes syndrome ISO RGD:620925 D RGD:9068941 20200609 RGD protein:decreased expression:testis (rat) PMID:24361842|REF_RGD_ID:9586046 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:1184 nephrotic syndrome ISO RGD:620925 D RGD:9068941 20200609 RGD protein:decreased expression:kidney cortex (rat) PMID:22874759|REF_RGD_ID:7242024 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:12217 Lewy body dementia ISO RGD:1342674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30236862 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:12236 primary biliary cholangitis ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:21651979|REF_RGD_ID:6484269 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease ISO RGD:1332548 D RGD:9068941 20200609 RGD mRNA:decreased expression:medium spiny neuron (mouse) PMID:17018277|REF_RGD_ID:7242018 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:SNPs, repeat, haplotype:promoter:rs17592631, rs2048025, rs11737023 (human) PMID:22589246|REF_RGD_ID:6484259 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease ISO RGD:1342674 D RGD:9068941 20200609 RGD mRNA:decreased expression:caudate nucleus (human) PMID:17018277|REF_RGD_ID:7242018 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease ISO RGD:620925 D RGD:9068941 20200609 RGD protein:increased expression:subthalamic nucleus (rat) PMID:22813864|REF_RGD_ID:10395291 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease no_association ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:pT612M (rs3736265) (human) PMID:19133136|REF_RGD_ID:10053656 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease onset ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:pT612M (rs3736265) (human) PMID:24383721|REF_RGD_ID:10053663 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease onset ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS2-19637A>G (rs7665116) (human) PMID:21595933|REF_RGD_ID:6770890 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease onset ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-1437T>C (rs2970870) (human) PMID:21211002|REF_RGD_ID:10395290 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease onset ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:snps, haplotypes:multiple (human) PMID:19133136|REF_RGD_ID:10053656 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease severity ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:17018277|REF_RGD_ID:7242018 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease severity ISO RGD:1342674 D RGD:9068941 20200609 RGD protein:increased expression:brain (human) PMID:21757867|REF_RGD_ID:10395289 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease treatment ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:20736066|REF_RGD_ID:10053648 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease treatment ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:21493629|REF_RGD_ID:10053650 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:snps:cds, 3' utr:p.T612M, *2380G>A (rs3736265, rs3774923) (human) PMID:18162502|REF_RGD_ID:7242032 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:12930 dilated cardiomyopathy treatment ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:19242323|REF_RGD_ID:2311057 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:12934 Kearns-Sayre syndrome ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:23406886|REF_RGD_ID:7241824 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:14330 Parkinson's disease ISO RGD:1332548 D RGD:9068941 20220825 MouseDO 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:14330 Parkinson's disease ISO RGD:1342674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30236862 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:14330 Parkinson's disease ISO RGD:1342674 D RGD:9068941 20200609 RGD PMID:21376232|REF_RGD_ID:6484271 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:14330 Parkinson's disease onset ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:SNPs:intron, 3' utr: (rs2970848, rs6821591) (human) PMID:21595954|REF_RGD_ID:6484270 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:1907 malignant fibrous histiocytoma treatment ISO RGD:1342674 D RGD:9068941 20200609 RGD human cell line in mouse model PMID:23166610|REF_RGD_ID:7242013 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:1909 melanoma severity ISO RGD:1342674 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor (human) PMID:23416000|REF_RGD_ID:7241823 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:263 kidney cancer ISO RGD:1342674 D RGD:9068941 20200609 RGD associated with Birt-Hogg-Dube Syndrome; mRNA:increased expression:kidney (human) PMID:23150719|REF_RGD_ID:7242016 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1342674 D RGD:9068941 20200609 RGD PMID:20732852|REF_RGD_ID:6484530 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1332548 D RGD:9068941 20200609 RGD mRNA:decreased expression:spinal cord, gastrocnemius muscle (mouse) PMID:23147503|REF_RGD_ID:7242019 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1342674 D RGD:9068941 20200609 RGD human gene in mouse model PMID:22102466|REF_RGD_ID:6484265 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1342674 D RGD:9068941 20200609 RGD mRNA:decreased expression:motor cortex, muscle (human) PMID:23147503|REF_RGD_ID:7242019 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1342674 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:22975021 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:3891 placental insufficiency ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:gastrocnemius muscle (rat) PMID:18319353|REF_RGD_ID:10059693 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:4195 hyperglycemia ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:22922125|REF_RGD_ID:7242061 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:4195 hyperglycemia ISO RGD:620925 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:heart left ventricle, myocardium (rat) PMID:19367030|REF_RGD_ID:10059674 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:4195 hyperglycemia treatment ISO RGD:1332548 D RGD:9068941 20200609 RGD associated with Obesity PMID:23499865|REF_RGD_ID:7241854 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:4448 macular degeneration ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:snps:exon, 3' utr:g.76874A>G, g.*2381A>G (rs3736265, rs3774923) (human) PMID:23335958|REF_RGD_ID:7241840 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:5419 schizophrenia ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:23348010|REF_RGD_ID:7241837 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:5844 myocardial infarction ISO RGD:1342674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22503866 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:5844 myocardial infarction ISO RGD:1342674 D RGD:9068941 20200609 RGD PMID:22087236|REF_RGD_ID:6484266 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:5844 myocardial infarction ISO RGD:620925 D RGD:9068941 20200609 RGD protein:decreased expression:heart (rat) PMID:22503866|REF_RGD_ID:7242181 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:6000 congestive heart failure ISO RGD:1332548 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart (mouse) PMID:23297372|REF_RGD_ID:7241843 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:6000 congestive heart failure ISO RGD:1332548 D RGD:9068941 20220825 MouseDO 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:6000 congestive heart failure ISO RGD:1342674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19808358|PMID:22503866 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:6000 congestive heart failure onset ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:23342071|REF_RGD_ID:7241838 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:630 genetic disease ISO RGD:1342674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:784 chronic kidney disease ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:22648295|REF_RGD_ID:7242023 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:7998 hyperthyroidism ISO RGD:620925 D RGD:9068941 20200609 RGD protein:increased expression:soleus muscle (rat) PMID:18669938|REF_RGD_ID:10059691 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:8947 diabetic retinopathy ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:20566666|REF_RGD_ID:6484532 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:8947 diabetic retinopathy ISO RGD:620925 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA:increased expression:retina (rat) PMID:22003111|REF_RGD_ID:5686899 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9000039 Spinal Cord Injuries ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:22208735|REF_RGD_ID:6484263 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9000669 Ventricular Dysfunction, Right treatment ISO RGD:620925 D RGD:9068941 20220916 RGD PMID:22523357|REF_RGD_ID:155226858 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9000887 Muscular Dystrophy, Animal ISO RGD:1342674 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22795790 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9000998 Brain Injuries ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:22642418|REF_RGD_ID:6484257 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9000998 Brain Injuries treatment ISO RGD:620925 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex (rat) PMID:24345766|REF_RGD_ID:10059630 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9001542 Albuminuria ISO RGD:1342674 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:snp:cds:g.75919G>A rs8192678 (human) PMID:22684233|REF_RGD_ID:7242025 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9002165 Diabetic Nephropathies ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.G482S (human) PMID:19900151|REF_RGD_ID:7242045 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9002165 Diabetic Nephropathies ISO RGD:1342674 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney (human) PMID:21784897|REF_RGD_ID:7242027 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9002231 Fetal Growth Retardation ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (rat) PMID:18433551|REF_RGD_ID:10059649 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9002399 Takotsubo Cardiomyopathy ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA:increased expression:myocardium (rat) PMID:23271280|REF_RGD_ID:7241846 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9003936 Cardiomegaly ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:14726475|REF_RGD_ID:10053662 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9003936 Cardiomegaly ISO RGD:620925 D RGD:9068941 20200609 RGD protein:increased expression:myocardium of left ventricle (rat) PMID:22105890|REF_RGD_ID:7242192 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9004484 Sepsis ISO RGD:1332548 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle PMID:20647557|REF_RGD_ID:6484531 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9004484 Sepsis ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle PMID:20647557|REF_RGD_ID:6484531 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9004576 Sleep Initiation and Maintenance Disorders ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.G482S (rs8192678) (human) PMID:22392034|REF_RGD_ID:6484261 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1332548 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (mouse) PMID:18802029|REF_RGD_ID:7297042 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1332548 D RGD:9068941 20200609 RGD protein:decreased expression:dorsal root ganglia (mouse) PMID:22561641|REF_RGD_ID:7242175 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1342674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563825 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet PMID:18270681|REF_RGD_ID:2311391 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:19520786|PMID:23272147|REF_RGD_ID:2311445|REF_RGD_ID:7241845 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:620925 D RGD:9068941 20200609 RGD protein:decreased expression:heart right ventricle (rat) PMID:23152488|REF_RGD_ID:7242015 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9006182 Carotid Artery Injuries ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:22892143|REF_RGD_ID:7242065 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9006182 Carotid Artery Injuries treatment ISO RGD:1332548 D RGD:9068941 20200609 RGD mouse gene in a rat model PMID:19553562|REF_RGD_ID:2311405 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:24918615|REF_RGD_ID:10059636 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9006646 Metabolic Syndrome ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA:decreased expression:gastrocnemius muscle (rat) PMID:20383225|REF_RGD_ID:10059661 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9007170 Bowen's Disease ISO RGD:1342674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21514422 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9007692 Insulin Resistance ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G482S rs8192678 (human) PMID:23449621|REF_RGD_ID:7241821 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9007692 Insulin Resistance ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:22658649|REF_RGD_ID:7242170 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9007801 Diseases of the Aged ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:24336883|REF_RGD_ID:10401813 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:19096023|REF_RGD_ID:10059669 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9008824 Sarcopenia ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA:altered expression:gastrocnemius muscle (rat) PMID:16870628|REF_RGD_ID:10053649 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:1332548 D RGD:9068941 20200609 RGD protein:decreased expression:dorsal root ganglia (mouse) PMID:22561641|REF_RGD_ID:7242175 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:1342674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15592662|PMID:17317762 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter:g.-383 (human) PMID:23251491|REF_RGD_ID:7241849 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.G482S (human) PMID:18270681|REF_RGD_ID:2311391 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:1342674 D RGD:9068941 20200609 RGD protein:decreased expression:vastus lateralis (human) PMID:23210442|REF_RGD_ID:7242009 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA:decreased expression:soleus muscle:type I muscle fiber (rat) PMID:17158179|REF_RGD_ID:10059689 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.G482S (human, Pima Indians) PMID:12606537|REF_RGD_ID:7242043 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:snps:intron:IVS3+52T>G, IVS3+21963A>G (rs2946385, rs4235308) (human) PMID:18162502|REF_RGD_ID:7242032 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:23250358|REF_RGD_ID:7241851 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:22824914|REF_RGD_ID:7242067 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9452 fatty liver disease ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:23174781|REF_RGD_ID:7242012 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9452 fatty liver disease ISO RGD:620925 D RGD:9068941 20200609 RGD protein:decreased methylation:liver (rat) PMID:22521344|REF_RGD_ID:7242179 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9452 fatty liver disease treatment ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:23274094|REF_RGD_ID:7241844 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9675 pulmonary emphysema ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:23144332|REF_RGD_ID:7242020 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:1332548 D RGD:9068941 20200609 RGD mRNA:altered expression:heart, brain, mitochondrion (mouse) PMID:19542201|REF_RGD_ID:7242046 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9970 obesity ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA:increased expression:retroperitoneal fat pad (rat) PMID:22401878|REF_RGD_ID:7242183 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9970 obesity treatment ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:23180161|REF_RGD_ID:7242011 11863356 PPARGC1A PPARG coactivator 1 alpha gene DOID:9970 obesity treatment ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:23256146|REF_RGD_ID:7241848 11863356 Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha gene DOID:3021 acute kidney failure ISO RGD:1332548 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:21881206|REF_RGD_ID:7242026 11863386 CNTN1 contactin 1 gene DOID:0080101 Compton-North congenital myopathy ISO RGD:732231 D RGD:7240710 20180130 OMIM 11863386 CNTN1 contactin 1 gene DOID:0080101 Compton-North congenital myopathy ISO RGD:732231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Compton-North congenital myopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:19026398|PMID:22242131|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 11863386 CNTN1 contactin 1 gene DOID:630 genetic disease ISO RGD:732231 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11863386 CNTN1 contactin 1 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:621300 D RGD:9068941 20200609 RGD PMID:22044737|REF_RGD_ID:5685697 11863386 CNTN1 contactin 1 gene DOID:9004866 Ataxia ISO RGD:732232 D RGD:9068941 20200609 RGD PMID:10595523|REF_RGD_ID:734798 11863426 LOC100992963 tenascin-X gene DOID:0050553 JMP syndrome ISO RGD:1345578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11863426 LOC100992963 tenascin-X gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:1345578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia PMID:10408786|PMID:10857554|PMID:10908170|PMID:11220701|PMID:12220458|PMID:12384784|PMID:14715874|PMID:15858147|PMID:17164306|PMID:1864962|PMID:19773403|PMID:20301350|PMID:21532487|PMID:23269230|PMID:23359698|PMID:23769969|PMID:24033266|PMID:25481255|PMID:25525159|PMID:25538881|PMID:25741868|PMID:26209023|PMID:26467025|PMID:26804566|PMID:28392195|PMID:28401898|PMID:28492532|PMID:28644547|PMID:28819757|PMID:29386111|PMID:29715434|PMID:30048636|PMID:3038528|PMID:30833958|PMID:30889569|PMID:30995443|PMID:31159521|PMID:31446012|PMID:31571129|PMID:31586465|PMID:31637888|PMID:31980526|PMID:32185686|PMID:32272826|PMID:32358738|PMID:32367404|PMID:32616876|PMID:32647925|PMID:3267225|PMID:32714392|PMID:32903448|PMID:33083013|PMID:33240318|PMID:33710594|PMID:33715135|PMID:34540367|PMID:8034294|PMID:8741909|PMID:9378109 11863426 LOC100992963 tenascin-X gene DOID:0080731 Ehlers-Danlos syndrome classic-like 1 ISO RGD:1345578 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome due to tenascin-X deficiency PMID:11642233|PMID:11925569|PMID:12865992|PMID:15733269|PMID:1620134|PMID:20649799|PMID:20853426|PMID:23284009|PMID:23555315|PMID:23620400|PMID:23768946|PMID:24033266|PMID:24088041|PMID:25333069|PMID:25741868|PMID:26075496|PMID:26257771|PMID:26408188|PMID:26633545|PMID:26662719|PMID:28344932|PMID:30115950|PMID:31141158|PMID:31702543|PMID:31731524|PMID:32164334|PMID:32214361|PMID:9288108 11863426 LOC100992963 tenascin-X gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1345578 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:11642233|PMID:15733269|PMID:20649799|PMID:20853426|PMID:23555315|PMID:23620400|PMID:24033266|PMID:24088041|PMID:25047945|PMID:25326637|PMID:25333069|PMID:25741868|PMID:26075496|PMID:26257771|PMID:26275793|PMID:26408188|PMID:26633545|PMID:26662719|PMID:29590070|PMID:30975432|PMID:31141158|PMID:31702543|PMID:32164334|PMID:32214361 11863426 LOC100992963 tenascin-X gene DOID:14757 Ehlers-Danlos syndrome hypermobility type ISO RGD:1345578 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 PMID:25326637|PMID:25741868 11863426 LOC100992963 tenascin-X gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1345578 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29379198 11863426 LOC100992963 tenascin-X gene DOID:630 genetic disease ISO RGD:1345578 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11642233|PMID:20649799|PMID:25741868|PMID:31702543 11863426 LOC100992963 tenascin-X gene DOID:9000781 Cyanosis ISO RGD:1345578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cyanosis PMID:25741868 11863426 LOC100992963 tenascin-X gene DOID:9003723 Vesicoureteral Reflux 8 ISO RGD:1345578 D RGD:7240710 20180130 OMIM 11863426 LOC100992963 tenascin-X gene DOID:9003723 Vesicoureteral Reflux 8 ISO RGD:1345578 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Vesicoureteral reflux 8 PMID:23555315|PMID:23620400|PMID:24088041|PMID:25741868|PMID:26257771|PMID:26408188|PMID:26633545|PMID:26662719|PMID:27582382|PMID:27657687|PMID:30115950|PMID:31141158|PMID:31702543|PMID:32164334|PMID:32214361 11863426 LOC100992963 tenascin-X gene DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency ISO RGD:1345578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency PMID:10408786|PMID:10496074|PMID:10720040|PMID:10857554|PMID:10908170|PMID:11220701|PMID:12220458|PMID:12384784|PMID:14513879|PMID:14715874|PMID:1496017|PMID:15110320|PMID:15858147|PMID:1644925|PMID:16788163|PMID:17119906|PMID:17164306|PMID:1864962|PMID:19204079|PMID:19505723|PMID:19773403|PMID:20301350|PMID:21134444|PMID:21169732|PMID:21228398|PMID:21329531|PMID:21532487|PMID:21534945|PMID:22841790|PMID:2303461|PMID:23166432|PMID:23241443|PMID:23269230|PMID:23359698|PMID:23359706|PMID:23769969|PMID:24033266|PMID:24077358|PMID:24904866|PMID:25227725|PMID:25481255|PMID:25525159|PMID:25538881|PMID:25630015|PMID:25741868|PMID:26206692|PMID:26209023|PMID:26467025|PMID:26804566|PMID:28392195|PMID:28401898|PMID:28492532|PMID:28644547|PMID:28741757|PMID:28819757|PMID:29386111|PMID:29715434|PMID:29996815|PMID:30048636|PMID:3038528|PMID:30833958|PMID:30889569|PMID:30968594|PMID:30995443|PMID:31159521|PMID:31446012|PMID:31571129|PMID:31586465|PMID:31637888|PMID:31980526|PMID:32185686|PMID:32272826|PMID:32289882|PMID:32358738|PMID:32367404|PMID:32616876|PMID:32647925|PMID:3267225|PMID:32714392|PMID:32903448|PMID:33083013|PMID:33240318|PMID:33710594|PMID:33715135|PMID:34540367|PMID:8034294|PMID:8741909|PMID:9099839|PMID:9187661|PMID:9215318|PMID:9378109 11863426 LOC100992963 tenascin-X gene DOID:9620 vesicoureteral reflux ISO RGD:1345578 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11863477 EIF4A2 eukaryotic translation initiation factor 4A2 gene DOID:0060575 3MC syndrome 1 ISO RGD:1319448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 11863477 EIF4A2 eukaryotic translation initiation factor 4A2 gene DOID:630 genetic disease ISO RGD:1319448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11863477 EIF4A2 eukaryotic translation initiation factor 4A2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1319448 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 11863477 EIF4A2 eukaryotic translation initiation factor 4A2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319448 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11863523 CISD2 CDGSH iron sulfur domain 2 gene DOID:0110630 Wolfram syndrome 2 ISO RGD:1603794 D RGD:7240710 20180130 OMIM 11863523 CISD2 CDGSH iron sulfur domain 2 gene DOID:0110630 Wolfram syndrome 2 ISO RGD:1603794 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolfram syndrome 2 PMID:10739754|PMID:17576681|PMID:17846994|PMID:25056293|PMID:25371195|PMID:25741868|PMID:28492532|PMID:29237418|PMID:9536098 11863523 CISD2 CDGSH iron sulfur domain 2 gene DOID:3633 beta-mannosidosis ISO RGD:1603794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 11863523 CISD2 CDGSH iron sulfur domain 2 gene DOID:630 genetic disease ISO RGD:1603794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11863523 CISD2 CDGSH iron sulfur domain 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603794 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 11863561 ELK4 ETS transcription factor ELK4 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1321444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11863561 ELK4 ETS transcription factor ELK4 gene DOID:12849 autistic disorder ISO RGD:1321444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11863561 ELK4 ETS transcription factor ELK4 gene DOID:1540 parathyroid carcinoma ISO RGD:1321444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11863561 ELK4 ETS transcription factor ELK4 gene DOID:630 genetic disease ISO RGD:1321444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11863561 ELK4 ETS transcription factor ELK4 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1321444 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11863561 ELK4 ETS transcription factor ELK4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11863573 ZZZ3 zinc finger ZZ-type containing 3 gene DOID:4905 pancreatic carcinoma ISO RGD:1351388 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34686948 11863573 ZZZ3 zinc finger ZZ-type containing 3 gene DOID:630 genetic disease ISO RGD:1351388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11863614 SDR42E1 short chain dehydrogenase/reductase family 42E, member 1 gene DOID:630 genetic disease ISO RGD:1601729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11863614 SDR42E1 short chain dehydrogenase/reductase family 42E, member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1601729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11863641 NR5A1 nuclear receptor subfamily 5 group A member 1 gene DOID:0070168 spermatogenic failure 3 ISO RGD:68493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:18414213|PMID:20887963|PMID:25741868|PMID:25989977|PMID:28492532 11863641 NR5A1 nuclear receptor subfamily 5 group A member 1 gene DOID:0070169 spermatogenic failure 8 ISO RGD:68493 D RGD:7240710 20180130 OMIM 11863641 NR5A1 nuclear receptor subfamily 5 group A member 1 gene DOID:0070169 spermatogenic failure 8 ISO RGD:68493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 8 PMID:20887963|PMID:25741868|PMID:25989977|PMID:28492532 11863641 NR5A1 nuclear receptor subfamily 5 group A member 1 gene DOID:0070188 spermatogenic failure 1 ISO RGD:68493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Oligosynaptic infertility PMID:10369247|PMID:11038323|PMID:12907682|PMID:16199547|PMID:17576681|PMID:17694559|PMID:17940071|PMID:19246354|PMID:19269353|PMID:20887963|PMID:22028768|PMID:22474171|PMID:22907560|PMID:23543655|PMID:23729601|PMID:24434652|PMID:25122490|PMID:25741868|PMID:25989977|PMID:26139438|PMID:27169744|PMID:27378692|PMID:27490115|PMID:27610946|PMID:27899157|PMID:28032338|PMID:28033660|PMID:28130116|PMID:28326187|PMID:28492532|PMID:28938747|PMID:29027299|PMID:29582157|PMID:29935645|PMID:30067310|PMID:30406445|PMID:30425642|PMID:31831369|PMID:32655042|PMID:32738419|PMID:32985417|PMID:33351340|PMID:34095689|PMID:9536098 11863641 NR5A1 nuclear receptor subfamily 5 group A member 1 gene DOID:0080864 primary ovarian insufficiency 7 ISO RGD:68493 D RGD:7240710 20180130 OMIM 11863641 NR5A1 nuclear receptor subfamily 5 group A member 1 gene DOID:0080864 primary ovarian insufficiency 7 ISO RGD:68493 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: ADRENAL INSUFFICIENCY, NR5A1-RELATED | ClinVar Annotator: match by term: Premature ovarian failure 7 PMID:11038323|PMID:11932325|PMID:17940071|PMID:19246354|PMID:25741868|PMID:26523528|PMID:27855412|PMID:28492532|PMID:30067310|PMID:32655042|PMID:34008892 11863641 NR5A1 nuclear receptor subfamily 5 group A member 1 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:68493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:22028768|PMID:22907560|PMID:25122490|PMID:25741868|PMID:27169744|PMID:28492532|PMID:30425642 11863641 NR5A1 nuclear receptor subfamily 5 group A member 1 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:68494 D RGD:9068941 20220825 MouseDO 11863641 NR5A1 nuclear receptor subfamily 5 group A member 1 gene DOID:0111764 46,XX sex reversal 4 ISO RGD:68493 D RGD:7240710 20200408 OMIM 11863641 NR5A1 nuclear receptor subfamily 5 group A member 1 gene DOID:0111764 46,XX sex reversal 4 ISO RGD:68493 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 46,XX sex reversal 4 PMID:11932325|PMID:25741868|PMID:26523528|PMID:27378692|PMID:27490115|PMID:27610946|PMID:27855412|PMID:28033660|PMID:28492532 11863641 NR5A1 nuclear receptor subfamily 5 group A member 1 gene DOID:0111772 46,XY sex reversal 3 ISO RGD:68493 D RGD:7240710 20200408 OMIM 11863641 NR5A1 nuclear receptor subfamily 5 group A member 1 gene DOID:0111772 46,XY sex reversal 3 ISO RGD:68493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 3 PMID:11932325|PMID:15070943|PMID:15472171|PMID:15579739|PMID:17200175|PMID:17694559|PMID:18414213|PMID:19246354|PMID:21691958|PMID:22028768|PMID:22474171|PMID:22549935|PMID:24434652|PMID:25122490|PMID:25326637|PMID:25741868|PMID:26523528|PMID:27169744|PMID:27378692|PMID:27490115|PMID:27610946|PMID:27855412|PMID:27899157|PMID:28033660|PMID:28492532|PMID:29095814|PMID:29935645|PMID:30425642|PMID:31513305|PMID:31745530|PMID:32738419|PMID:33202802 11863641 NR5A1 nuclear receptor subfamily 5 group A member 1 gene DOID:10892 hypospadias ISO RGD:68493 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hypospadias PMID:25741868 11863641 NR5A1 nuclear receptor subfamily 5 group A member 1 gene DOID:12336 male infertility ISO RGD:68493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20887963 11863641 NR5A1 nuclear receptor subfamily 5 group A member 1 gene DOID:14447 gonadal dysgenesis treatment ISO RGD:68350 D RGD:9068941 20200609 RGD PMID:16467257|REF_RGD_ID:12904919 11863641 NR5A1 nuclear receptor subfamily 5 group A member 1 gene DOID:14448 46,XY sex reversal ISO RGD:68493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10369247|PMID:11932325|PMID:15070943 11863641 NR5A1 nuclear receptor subfamily 5 group A member 1 gene DOID:14450 46 XX gonadal dysgenesis ISO RGD:68493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19246354 11863641 NR5A1 nuclear receptor subfamily 5 group A member 1 gene DOID:1923 disorder of sexual development ISO RGD:68493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation PMID:28492532 11863641 NR5A1 nuclear receptor subfamily 5 group A member 1 gene DOID:289 endometriosis ISO RGD:68493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17519303 11863641 NR5A1 nuclear receptor subfamily 5 group A member 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:68493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19246354 11863641 NR5A1 nuclear receptor subfamily 5 group A member 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:68493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22028768|PMID:22907560|PMID:23154282|PMID:25122490|PMID:25383892|PMID:25741868|PMID:27169744|PMID:28492532 11863641 NR5A1 nuclear receptor subfamily 5 group A member 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:68493 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868|PMID:28492532 11863641 NR5A1 nuclear receptor subfamily 5 group A member 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:68493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:22028768|PMID:22907560|PMID:25122490|PMID:25741868|PMID:27169744|PMID:28492532|PMID:30425642 11863641 NR5A1 nuclear receptor subfamily 5 group A member 1 gene DOID:630 genetic disease ISO RGD:68493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11863641 NR5A1 nuclear receptor subfamily 5 group A member 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:68493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23291911 11863641 NR5A1 nuclear receptor subfamily 5 group A member 1 gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:68493 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism 11863641 NR5A1 nuclear receptor subfamily 5 group A member 1 gene DOID:9008622 Adrenal Insufficiency ISO RGD:68493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10369247 11863641 NR5A1 nuclear receptor subfamily 5 group A member 1 gene DOID:905 Zellweger syndrome ISO RGD:68493 D RGD:9068941 20200609 RGD DNA:deletions, missense mutations, nonsense mutation: exon:multiple PMID:16141001|REF_RGD_ID:11062374 11863656 MPV17 mitochondrial inner membrane protein MPV17 gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:1353525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:16582910|PMID:16909392|PMID:18261905|PMID:19012992|PMID:20074988|PMID:25741868|PMID:26467025|PMID:27536553|PMID:28209105|PMID:28492532|PMID:29282788|PMID:30273399|PMID:30298599|PMID:30833296|PMID:32703289 11863656 MPV17 mitochondrial inner membrane protein MPV17 gene DOID:0080121 mitochondrial DNA depletion syndrome 3 ISO RGD:1619253 D RGD:9068941 20220825 MouseDO OMIM:251880 11863656 MPV17 mitochondrial inner membrane protein MPV17 gene DOID:0080125 mitochondrial DNA depletion syndrome 6 ISO RGD:1353525 D RGD:7240710 20180130 OMIM 11863656 MPV17 mitochondrial inner membrane protein MPV17 gene DOID:0080125 mitochondrial DNA depletion syndrome 6 ISO RGD:1353525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MPV17-related mitochondrial DNA maintenance defect | ClinVar Annotator: match by term: Navajo neurohepatopathy PMID:16199547|PMID:16582910|PMID:16909392|PMID:17694548|PMID:18261905|PMID:18695062|PMID:19012992|PMID:19520594|PMID:20074988|PMID:22508010|PMID:22964873|PMID:23714749|PMID:23829229|PMID:24190800|PMID:25016221|PMID:25129007|PMID:25741868|PMID:25861990|PMID:26437932|PMID:26467025|PMID:26741492|PMID:27536553|PMID:27848944|PMID:28207748|PMID:28209105|PMID:28492532|PMID:28673863|PMID:29282788|PMID:30273399|PMID:30298599|PMID:30833296|PMID:31319225|PMID:31673878|PMID:32703289|PMID:33258288 11863656 MPV17 mitochondrial inner membrane protein MPV17 gene DOID:0110033 autosomal recessive Alport syndrome ISO RGD:1619253 D RGD:9068941 20220825 MouseDO OMIM:203780 11863656 MPV17 mitochondrial inner membrane protein MPV17 gene DOID:0111559 Charcot-Marie-Tooth disease type 2EE ISO RGD:1353525 D RGD:7240710 20190515 OMIM 11863656 MPV17 mitochondrial inner membrane protein MPV17 gene DOID:0111559 Charcot-Marie-Tooth disease type 2EE ISO RGD:1353525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2EE | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE PMID:20074988|PMID:22508010|PMID:23714749|PMID:24190800|PMID:25129007|PMID:25741868|PMID:25861990|PMID:26437932|PMID:26741492|PMID:27536553|PMID:28492532|PMID:28673863|PMID:29282788|PMID:30298599|PMID:31673878 11863656 MPV17 mitochondrial inner membrane protein MPV17 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1353525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11863656 MPV17 mitochondrial inner membrane protein MPV17 gene DOID:10123 pigmentation disease ISO RGD:1353525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18818194 11863656 MPV17 mitochondrial inner membrane protein MPV17 gene DOID:1184 nephrotic syndrome ISO RGD:1619253 D RGD:9068941 20220825 MouseDO OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861 11863656 MPV17 mitochondrial inner membrane protein MPV17 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1353525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18818194 11863656 MPV17 mitochondrial inner membrane protein MPV17 gene DOID:5463 cochlear disease ISO RGD:1353525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18818194 11863656 MPV17 mitochondrial inner membrane protein MPV17 gene DOID:576 proteinuria ISO RGD:1353525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18818194 11863656 MPV17 mitochondrial inner membrane protein MPV17 gene DOID:630 genetic disease ISO RGD:1353525 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11863656 MPV17 mitochondrial inner membrane protein MPV17 gene DOID:700 mitochondrial metabolism disease ISO RGD:1353525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18818194 11863656 MPV17 mitochondrial inner membrane protein MPV17 gene DOID:9000761 Deoxyguanosine Kinase Deficiency ISO RGD:1353525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome, hepatocerebral form PMID:16582910|PMID:16909392|PMID:17694548|PMID:19520594|PMID:23714749|PMID:23829229|PMID:25016221|PMID:25741868|PMID:26437932|PMID:27536553|PMID:28492532|PMID:28673863|PMID:29282788|PMID:30298599|PMID:31673878 11863671 STXBP5 syntaxin binding protein 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1347913 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11863671 STXBP5 syntaxin binding protein 5 gene DOID:630 genetic disease ISO RGD:1347913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11863724 CARD10 caspase recruitment domain family member 10 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1312685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11863724 CARD10 caspase recruitment domain family member 10 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1312685 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11863724 CARD10 caspase recruitment domain family member 10 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1312685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11863724 CARD10 caspase recruitment domain family member 10 gene DOID:1070 primary open angle glaucoma ISO RGD:1312685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:27896285 11863724 CARD10 caspase recruitment domain family member 10 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1312685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11863724 CARD10 caspase recruitment domain family member 10 gene DOID:630 genetic disease ISO RGD:1312685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11863724 CARD10 caspase recruitment domain family member 10 gene DOID:9006139 Immunodeficiency 89 and Autoimmunity ISO RGD:1312685 D RGD:7240710 20211201 OMIM 11863724 CARD10 caspase recruitment domain family member 10 gene DOID:9006139 Immunodeficiency 89 and Autoimmunity ISO RGD:1312685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 89 and autoimmunity PMID:32238915 11863756 GPHN gephyrin gene DOID:0050572 cone-rod dystrophy ISO RGD:69477 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:15258582|PMID:16269441|PMID:20006610|PMID:22065924|PMID:23847139|PMID:24474277|PMID:25741868|PMID:27032803|PMID:28157192|PMID:28492532|PMID:30134391|PMID:32014858 11863756 GPHN gephyrin gene DOID:0050817 Stargardt disease ISO RGD:69477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:25741868 11863756 GPHN gephyrin gene DOID:0060318 acute promyelocytic leukemia ISO RGD:69477 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 11863756 GPHN gephyrin gene DOID:0060695 hyperekplexia ISO RGD:69477 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Kok disease PMID:12684523|PMID:25741868|PMID:28492532|PMID:29948376 11863756 GPHN gephyrin gene DOID:0060696 hyperekplexia 1 ISO RGD:69477 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperekplexia 1 PMID:12684523|PMID:25741868|PMID:28492532|PMID:29948376 11863756 GPHN gephyrin gene DOID:0070223 progressive familial intrahepatic cholestasis 3 ISO RGD:69477 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Low Gamma-GT Familial Intrahepatic Cholestasis PMID:17964524|PMID:22065924|PMID:25741868|PMID:28492532|PMID:32014858|PMID:34001834 11863756 GPHN gephyrin gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:69477 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: Retinitis pigmentosa 53 PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:21232531|PMID:21602930|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25412400|PMID:25494902|PMID:25561519|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26868535|PMID:27032803|PMID:27208204|PMID:27422788|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:2855908|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31630094|PMID:31814694|PMID:32014858|PMID:32141364|PMID:32790509|PMID:34001834|PMID:34448047|PMID:9536098 11863756 GPHN gephyrin gene DOID:0111164 molybdenum cofactor deficiency type A ISO RGD:69477 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group A PMID:25741868|PMID:28492532 11863756 GPHN gephyrin gene DOID:0111166 molybdenum cofactor deficiency type C ISO RGD:69477 D RGD:7240710 20180130 OMIM 11863756 GPHN gephyrin gene DOID:0111166 molybdenum cofactor deficiency type C ISO RGD:69477 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group C PMID:11095995|PMID:12684523|PMID:12754701|PMID:16199547|PMID:17576681|PMID:22040219|PMID:23184456|PMID:23393157|PMID:24561070|PMID:25640679|PMID:25741868|PMID:26613940|PMID:27652284|PMID:28492532|PMID:29948376|PMID:31780880|PMID:33532714|PMID:9536098 11863756 GPHN gephyrin gene DOID:10283 prostate cancer ISO RGD:69477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11863756 GPHN gephyrin gene DOID:10584 retinitis pigmentosa ISO RGD:69477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:31054281|PMID:32014858 11863756 GPHN gephyrin gene DOID:10584 retinitis pigmentosa ISO RGD:69477 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26306921|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30718709|PMID:30979730|PMID:31054281|PMID:32014858|PMID:34448047 11863756 GPHN gephyrin gene DOID:10584 retinitis pigmentosa ISO RGD:69477 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:32014858|PMID:32141364|PMID:32790509|PMID:34001834|PMID:34448047 11863756 GPHN gephyrin gene DOID:1242 globe disease ISO RGD:69477 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Globe disease PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:20301475|PMID:20683928|PMID:22065924|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26667666|PMID:28041643|PMID:28492532 11863756 GPHN gephyrin gene DOID:13366 Stiff-Person syndrome ISO RGD:69477 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stiff-person syndrome, congenital PMID:12684523|PMID:25741868|PMID:28492532|PMID:29948376 11863756 GPHN gephyrin gene DOID:14791 Leber congenital amaurosis ISO RGD:69477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:27032803|PMID:27208204|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30979730|PMID:31054281|PMID:31814694|PMID:32014858|PMID:32865313|PMID:9536098 11863756 GPHN gephyrin gene DOID:14791 Leber congenital amaurosis ISO RGD:69477 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:27032803|PMID:27208204|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31814694|PMID:32014858|PMID:32141364|PMID:32790509|PMID:32865313|PMID:34001834|PMID:34448047|PMID:9536098 11863756 GPHN gephyrin gene DOID:1574 alcohol use disorder ISO RGD:69477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 11863756 GPHN gephyrin gene DOID:1826 epilepsy ISO RGD:69477 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11863756 GPHN gephyrin gene DOID:1969 cerebral palsy ISO RGD:69477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:33073849 11863756 GPHN gephyrin gene DOID:4448 macular degeneration ISO RGD:69477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:16269441|PMID:17512964|PMID:19011012|PMID:21151602|PMID:22065924|PMID:23591405|PMID:25412400|PMID:25494902|PMID:25741868|PMID:28492532|PMID:30902645|PMID:30979730|PMID:32014858|PMID:32790509|PMID:34001834 11863756 GPHN gephyrin gene DOID:5419 schizophrenia ISO RGD:69477 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11863756 GPHN gephyrin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11863756 GPHN gephyrin gene DOID:630 genetic disease ISO RGD:69477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12684523|PMID:25741868|PMID:28492532|PMID:33156547|PMID:35445667 11863756 GPHN gephyrin gene DOID:655 inherited metabolic disorder ISO RGD:69477 D RGD:9068941 20200609 RGD molybdenum cofactor deficiency, complementation group B,OMIM: 252150 PMID:12754701|REF_RGD_ID:1558665 11863756 GPHN gephyrin gene DOID:8501 fundus dystrophy ISO RGD:69477 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:18779497|PMID:19140180|PMID:20301475|PMID:20683928|PMID:20736127|PMID:22065924|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26497376|PMID:26667666|PMID:27032803|PMID:27208204|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31456290|PMID:32014858|PMID:32141364|PMID:34001834|PMID:34448047|PMID:9536098 11863756 GPHN gephyrin gene DOID:9000849 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome ISO RGD:69477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinal dystrophy, juvenile cataracts, and short stature syndrome PMID:24916380|PMID:25741868|PMID:28492532 11863756 GPHN gephyrin gene DOID:9001325 Rett Syndrome, Atypical ISO RGD:69477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:25741868|PMID:33073849 11863756 GPHN gephyrin gene DOID:9003249 Glycosylphosphatidylinositol Biosynthesis Defect 17 ISO RGD:69477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 17 PMID:25741868|PMID:29573052|PMID:29603516|PMID:33156547|PMID:35445667 11863756 GPHN gephyrin gene DOID:9005632 Cocaine-Related Disorders ISO RGD:69477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 11863756 GPHN gephyrin gene DOID:9008296 Eye Abnormalities ISO RGD:69477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:20301475|PMID:20683928|PMID:22065924|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26667666|PMID:28041643|PMID:28492532 11863804 TXNDC16 thioredoxin domain containing 16 gene DOID:630 genetic disease ISO RGD:1315553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11863829 GPN1 GPN-loop GTPase 1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1319547 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11863829 GPN1 GPN-loop GTPase 1 gene DOID:630 genetic disease ISO RGD:1319547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11863829 GPN1 GPN-loop GTPase 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:1319547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27749845 11863847 CD69 CD69 molecule gene DOID:630 genetic disease ISO RGD:1351395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11863847 CD69 CD69 molecule gene DOID:848 arthritis ISO RGD:1351395 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12882836 11863847 CD69 CD69 molecule gene DOID:9002457 Experimental Arthritis ISO RGD:1351395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12882836 11863847 CD69 CD69 molecule gene DOID:9003281 Spontaneous Abortions ISO RGD:1351395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11863847 CD69 CD69 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:1351395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19430480 11863860 PAN2 poly(A) specific ribonuclease subunit PAN2 gene DOID:13580 cholestasis ISO RGD:1348496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 11863860 PAN2 poly(A) specific ribonuclease subunit PAN2 gene DOID:630 genetic disease ISO RGD:1348496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11863860 PAN2 poly(A) specific ribonuclease subunit PAN2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 11863911 LOC100971748 KRAB domain-containing protein 1 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:5130419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 11863911 LOC100971748 KRAB domain-containing protein 1 gene DOID:630 genetic disease ISO RGD:5130419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11863933 TMEM107 transmembrane protein 107 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1603948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 1 PMID:25741868|PMID:27571260 11863933 TMEM107 transmembrane protein 107 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1603948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11863933 TMEM107 transmembrane protein 107 gene DOID:0080253 Meckel syndrome 13 ISO RGD:1603948 D RGD:7240710 20190315 OMIM 11863933 TMEM107 transmembrane protein 107 gene DOID:0080253 Meckel syndrome 13 ISO RGD:1603948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel syndrome 13 PMID:25741868|PMID:26123494|PMID:26595381 11863933 TMEM107 transmembrane protein 107 gene DOID:0080254 orofaciodigital syndrome XVI ISO RGD:1603948 D RGD:7240710 20190315 OMIM 11863933 TMEM107 transmembrane protein 107 gene DOID:0080254 orofaciodigital syndrome XVI ISO RGD:1603948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVI | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XVI PMID:25741868|PMID:26595381 11863933 TMEM107 transmembrane protein 107 gene DOID:0080600 COVID-19 ISO RGD:1603948 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 11863933 TMEM107 transmembrane protein 107 gene DOID:12177 common variable immunodeficiency ISO RGD:1603948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11863933 TMEM107 transmembrane protein 107 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11863933 TMEM107 transmembrane protein 107 gene DOID:2729 dyskeratosis congenita ISO RGD:1603948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11863933 TMEM107 transmembrane protein 107 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1603948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 11863933 TMEM107 transmembrane protein 107 gene DOID:630 genetic disease ISO RGD:1603948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11863933 TMEM107 transmembrane protein 107 gene DOID:9003124 Labrune Syndrome ISO RGD:1603948 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: LABRUNE SYNDROME | ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts PMID:25741868|PMID:27571260|PMID:28177126|PMID:28492532|PMID:29260032|PMID:29970281|PMID:29984895|PMID:29984898|PMID:29996189|PMID:31521395|PMID:32342562|PMID:33029936 11863957 RIT2 Ras like without CAAX 2 gene DOID:1059 intellectual disability ISO RGD:1316971 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11863957 RIT2 Ras like without CAAX 2 gene DOID:630 genetic disease ISO RGD:1316971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11863957 RIT2 Ras like without CAAX 2 gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:1307654 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 11863971 VMA21 vacuolar ATPase assembly factor VMA21 gene DOID:0050760 X-linked myopathy with excessive autophagy ISO RGD:1604972 D RGD:7240710 20180130 OMIM 11863971 VMA21 vacuolar ATPase assembly factor VMA21 gene DOID:0050760 X-linked myopathy with excessive autophagy ISO RGD:1604972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy PMID:10063835|PMID:10449925|PMID:15725586|PMID:16217076|PMID:17576681|PMID:20434914|PMID:23315026|PMID:23850239|PMID:24488655|PMID:25683699|PMID:25741868|PMID:25809233|PMID:25817839|PMID:28492532|PMID:9305655|PMID:9536098 11863971 VMA21 vacuolar ATPase assembly factor VMA21 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11863971 VMA21 vacuolar ATPase assembly factor VMA21 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:1604972 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 11863971 VMA21 vacuolar ATPase assembly factor VMA21 gene DOID:12849 autistic disorder ISO RGD:1604972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11863971 VMA21 vacuolar ATPase assembly factor VMA21 gene DOID:630 genetic disease ISO RGD:1604972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23315026|PMID:25809233|PMID:28492532|PMID:9536098 11863978 SYNC syncoilin, intermediate filament protein gene DOID:630 genetic disease ISO RGD:1346585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11863988 TBX21 T-box transcription factor 21 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1317938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to PMID:15806396 11863988 TBX21 T-box transcription factor 21 gene DOID:0111579 asthma, nasal polyps, and aspirin intolerance ISO RGD:1317938 D RGD:7240710 20180130 OMIM 11863988 TBX21 T-box transcription factor 21 gene DOID:0111579 asthma, nasal polyps, and aspirin intolerance ISO RGD:1317938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance PMID:25741868 11863988 TBX21 T-box transcription factor 21 gene DOID:12365 malaria ISO RGD:1317938 D RGD:9068941 20200807 RGD PMID:19338000|REF_RGD_ID:38455985 11863988 TBX21 T-box transcription factor 21 gene DOID:2841 asthma ISO RGD:1317938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15806396 11863988 TBX21 T-box transcription factor 21 gene DOID:2841 asthma ISO RGD:1317939 D RGD:9068941 20220825 MouseDO OMIM:600807 11863988 TBX21 T-box transcription factor 21 gene DOID:630 genetic disease ISO RGD:1317938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11863988 TBX21 T-box transcription factor 21 gene DOID:783 end stage renal disease ISO RGD:1317938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26970513 11863988 TBX21 T-box transcription factor 21 gene DOID:9000762 Immunodeficiency 88 ISO RGD:1317938 D RGD:7240710 20211201 OMIM 11863988 TBX21 T-box transcription factor 21 gene DOID:9000762 Immunodeficiency 88 ISO RGD:1317938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 88 PMID:25741868 11863988 TBX21 T-box transcription factor 21 gene DOID:9004484 Sepsis severity ISO RGD:1317938 D RGD:9068941 20200806 RGD PMID:25403265|REF_RGD_ID:38455982 11863988 TBX21 T-box transcription factor 21 gene DOID:9005372 Inflammation ISO RGD:1317938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22325453 11863988 TBX21 T-box transcription factor 21 gene DOID:9006961 Asthma and Nasal Polyps ISO RGD:1317938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma and nasal polyps PMID:15806396 11863999 KRI1 KRI1 homolog gene DOID:630 genetic disease ISO RGD:1607005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864022 SUV39H1 SUV39H1 histone lysine methyltransferase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11864022 SUV39H1 SUV39H1 histone lysine methyltransferase gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1348120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 11864022 SUV39H1 SUV39H1 histone lysine methyltransferase gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1348120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11864022 SUV39H1 SUV39H1 histone lysine methyltransferase gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1348120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11864022 SUV39H1 SUV39H1 histone lysine methyltransferase gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1348120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11864022 SUV39H1 SUV39H1 histone lysine methyltransferase gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1348120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 11864022 SUV39H1 SUV39H1 histone lysine methyltransferase gene DOID:12849 autistic disorder ISO RGD:1348120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11864022 SUV39H1 SUV39H1 histone lysine methyltransferase gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1348120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:16783379|PMID:22706301|PMID:23704091|PMID:24453067|PMID:28492532 11864022 SUV39H1 SUV39H1 histone lysine methyltransferase gene DOID:3070 high grade glioma ISO RGD:1348120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11864022 SUV39H1 SUV39H1 histone lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1348120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864022 SUV39H1 SUV39H1 histone lysine methyltransferase gene DOID:9004203 Chromosome Breakage ISO RGD:1348120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29391238 11864022 SUV39H1 SUV39H1 histone lysine methyltransferase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1348120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29391238 11864032 MRPS14 mitochondrial ribosomal protein S14 gene DOID:0111466 combined oxidative phosphorylation deficiency 38 ISO RGD:1319772 D RGD:7240710 20190911 OMIM 11864032 MRPS14 mitochondrial ribosomal protein S14 gene DOID:0111466 combined oxidative phosphorylation deficiency 38 ISO RGD:1319772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 38 PMID:30358850 11864032 MRPS14 mitochondrial ribosomal protein S14 gene DOID:1540 parathyroid carcinoma ISO RGD:1319772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11864032 MRPS14 mitochondrial ribosomal protein S14 gene DOID:3755 antithrombin III deficiency ISO RGD:1319772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 11864032 MRPS14 mitochondrial ribosomal protein S14 gene DOID:630 genetic disease ISO RGD:1319772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864032 MRPS14 mitochondrial ribosomal protein S14 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1319772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 11864032 MRPS14 mitochondrial ribosomal protein S14 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11864044 ASPN asporin gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1345823 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 11864044 ASPN asporin gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1345823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 11864044 ASPN asporin gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1345823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 11864044 ASPN asporin gene DOID:630 genetic disease ISO RGD:1345823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864044 ASPN asporin gene DOID:7147 ankylosing spondylitis susceptibility ISO RGD:1345823 D RGD:9068941 20200609 RGD DNA:repeats:exon: PMID:20144272|REF_RGD_ID:9684964 11864044 ASPN asporin gene DOID:8398 osteoarthritis ISO RGD:1345823 D RGD:7240710 20230505 OMIM 11864044 ASPN asporin gene DOID:8398 osteoarthritis no_association ISO RGD:1345823 D RGD:9068941 20200609 RGD DNA:repeats:exon: PMID:16542493|REF_RGD_ID:9684966 11864044 ASPN asporin gene DOID:90 degenerative disc disease severity ISO RGD:1345823 D RGD:9068941 20200609 RGD mRNA:increased expression:intervertebral disk: PMID:19327154|REF_RGD_ID:9684961 11864044 ASPN asporin gene DOID:90 degenerative disc disease susceptibility ISO RGD:1345823 D RGD:9068941 20200609 RGD DNA:repeats:exon: PMID:18304494|REF_RGD_ID:9684970 11864044 ASPN asporin gene DOID:9000058 Keloid ISO RGD:1345823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 11864044 ASPN asporin gene DOID:9000585 Intervertebral Disc Disease ISO RGD:1345823 D RGD:7240710 20230505 OMIM 11864044 ASPN asporin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11864044 ASPN asporin gene DOID:9002331 Knee Osteoarthritis ISO RGD:1345823 D RGD:9068941 20200609 RGD mRNA:increased expression:cartilage: PMID:15640800|REF_RGD_ID:9684965 11864044 ASPN asporin gene DOID:9002331 Knee Osteoarthritis severity ISO RGD:1345823 D RGD:9068941 20200609 RGD DNA:repeats:exon: PMID:15640800|REF_RGD_ID:9684965 11864044 ASPN asporin gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1345823 D RGD:9068941 20200609 RGD DNA:repeats:exon: PMID:15640800|REF_RGD_ID:9684965 11864044 ASPN asporin gene DOID:9007078 Hip Dislocation susceptibility ISO RGD:1345823 D RGD:9068941 20200609 RGD DNA:repeats:exon: PMID:21329514|REF_RGD_ID:9684968 11864056 LOC100978706 gamma-crystallin B gene DOID:0110236 cataract 39 multiple types ISO RGD:1347974 D RGD:7240710 20180130 OMIM 11864056 LOC100978706 gamma-crystallin B gene DOID:0110236 cataract 39 multiple types ISO RGD:1347974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 39 multiple types PMID:23288985|PMID:25741868|PMID:28492532 11864056 LOC100978706 gamma-crystallin B gene DOID:14557 primary pulmonary hypertension ISO RGD:1347974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11864056 LOC100978706 gamma-crystallin B gene DOID:630 genetic disease ISO RGD:1347974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11864056 LOC100978706 gamma-crystallin B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11864066 ARHGDIB Rho GDP dissociation inhibitor beta gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1313380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 11864066 ARHGDIB Rho GDP dissociation inhibitor beta gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1313380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 11864066 ARHGDIB Rho GDP dissociation inhibitor beta gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11864066 ARHGDIB Rho GDP dissociation inhibitor beta gene DOID:630 genetic disease ISO RGD:1313380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864066 ARHGDIB Rho GDP dissociation inhibitor beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11864066 ARHGDIB Rho GDP dissociation inhibitor beta gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1313380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 11864076 TUBD1 tubulin delta 1 gene DOID:0050777 Joubert syndrome ISO RGD:1323696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11864076 TUBD1 tubulin delta 1 gene DOID:630 genetic disease ISO RGD:1323696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864104 RNF157 ring finger protein 157 gene DOID:630 genetic disease ISO RGD:1348356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864104 RNF157 ring finger protein 157 gene DOID:684 hepatocellular carcinoma ISO RGD:1348356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11864139 XPA XPA, DNA damage recognition and repair factor gene DOID:0050427 xeroderma pigmentosum ISO RGD:1318735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:10447254|PMID:10862089|PMID:12509227|PMID:1352672|PMID:1372102|PMID:1372103|PMID:15214909|PMID:15661657|PMID:1601884|PMID:16491090|PMID:16792756|PMID:16905156|PMID:1702221|PMID:17576681|PMID:20054342|PMID:20199544|PMID:20534089|PMID:20574439|PMID:21148310|PMID:22081045|PMID:2234061|PMID:23194742|PMID:24135642|PMID:24728327|PMID:24757057|PMID:25256075|PMID:25525159|PMID:25566891|PMID:25741868|PMID:26659639|PMID:26743599|PMID:26884178|PMID:27413738|PMID:27607234|PMID:27982466|PMID:28492532|PMID:29208038|PMID:30077970|PMID:31478152|PMID:7577588|PMID:7876263|PMID:8105686|PMID:8541864|PMID:8765158|PMID:8825598|PMID:9536098|PMID:9671271 11864139 XPA XPA, DNA damage recognition and repair factor gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1318735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 11864139 XPA XPA, DNA damage recognition and repair factor gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1318735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 11864139 XPA XPA, DNA damage recognition and repair factor gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1318735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 11864139 XPA XPA, DNA damage recognition and repair factor gene DOID:0110843 xeroderma pigmentosum group A ISO RGD:1318735 D RGD:7240710 20180418 OMIM 11864139 XPA XPA, DNA damage recognition and repair factor gene DOID:0110843 xeroderma pigmentosum group A ISO RGD:1318735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum group A PMID:10447254|PMID:10862089|PMID:12509227|PMID:1339397|PMID:1352672|PMID:1372102|PMID:1372103|PMID:15214909|PMID:15661657|PMID:1601884|PMID:16098033|PMID:16199547|PMID:16491090|PMID:16905156|PMID:1702221|PMID:17576681|PMID:18414213|PMID:20054342|PMID:20199544|PMID:20534089|PMID:20574439|PMID:22081045|PMID:22190868|PMID:2234061|PMID:23194742|PMID:24063568|PMID:24135642|PMID:24704021|PMID:24728327|PMID:24757057|PMID:25256075|PMID:25326635|PMID:25525159|PMID:25566891|PMID:25741868|PMID:26743599|PMID:26884178|PMID:27413738|PMID:27607234|PMID:27982466|PMID:28492532|PMID:29208038|PMID:30077970|PMID:31478152|PMID:34234304|PMID:35197637|PMID:7577588|PMID:7876263|PMID:8105686|PMID:8541864|PMID:8765158|PMID:8825598|PMID:9536098|PMID:9671271|PMID:9753735 11864139 XPA XPA, DNA damage recognition and repair factor gene DOID:1059 intellectual disability ISO RGD:1318735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11864139 XPA XPA, DNA damage recognition and repair factor gene DOID:12712 nephronophthisis ISO RGD:1318735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 11864139 XPA XPA, DNA damage recognition and repair factor gene DOID:14004 thoracic aortic aneurysm ISO RGD:1318735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 11864139 XPA XPA, DNA damage recognition and repair factor gene DOID:2394 ovarian cancer ISO RGD:1318735 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 11864139 XPA XPA, DNA damage recognition and repair factor gene DOID:2513 basal cell carcinoma ISO RGD:1318735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17687452 11864139 XPA XPA, DNA damage recognition and repair factor gene DOID:2962 Cockayne syndrome ISO RGD:1316157 D RGD:9068941 20200609 RGD PMID:19114557|REF_RGD_ID:10401087 11864139 XPA XPA, DNA damage recognition and repair factor gene DOID:630 genetic disease ISO RGD:1318735 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16792756|PMID:25741868|PMID:26659639|PMID:26743599|PMID:26884178|PMID:28492532 11864139 XPA XPA, DNA damage recognition and repair factor gene DOID:9001793 Generalized Epilepsy ISO RGD:1318735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 11864139 XPA XPA, DNA damage recognition and repair factor gene DOID:9002245 Intestinal Neoplasms ISO RGD:1318735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16962818 11864139 XPA XPA, DNA damage recognition and repair factor gene DOID:9004464 Skin Neoplasms ISO RGD:1318735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10755388|PMID:16962818 11864139 XPA XPA, DNA damage recognition and repair factor gene DOID:9006269 Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone ISO RGD:1318735 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dwarfism, low-birth-weight type, with unresponsiveness to growth hormone PMID:25741868|PMID:28492532|PMID:31478152 11864139 XPA XPA, DNA damage recognition and repair factor gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1318735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216194|PMID:9885240 11864139 XPA XPA, DNA damage recognition and repair factor gene DOID:9007188 Liver Neoplasms ISO RGD:1318735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24084170 11864156 SLC25A29 solute carrier family 25 member 29 gene DOID:0080600 COVID-19 ISO RGD:1317684 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11864156 SLC25A29 solute carrier family 25 member 29 gene DOID:630 genetic disease ISO RGD:1317684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864156 SLC25A29 solute carrier family 25 member 29 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1317684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11864208 FAT4 FAT atypical cadherin 4 gene DOID:0060238 Van Maldergem syndrome ISO RGD:1342504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Van Maldergem syndrome PMID:24033266 11864208 FAT4 FAT atypical cadherin 4 gene DOID:0060366 Hennekam syndrome ISO RGD:1342504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11864208 FAT4 FAT atypical cadherin 4 gene DOID:0060673 Peters anomaly ISO RGD:1342504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:26893459|PMID:28492532 11864208 FAT4 FAT atypical cadherin 4 gene DOID:0080205 CAKUT ISO RGD:1342504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868|PMID:28492532|PMID:28878612|PMID:30143558 11864208 FAT4 FAT atypical cadherin 4 gene DOID:0080585 Van Maldergem syndrome 1 ISO RGD:1342504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Van Maldergem syndrome 1 PMID:28492532 11864208 FAT4 FAT atypical cadherin 4 gene DOID:0080586 Van Maldergem syndrome 2 ISO RGD:1342504 D RGD:7240710 20180130 OMIM 11864208 FAT4 FAT atypical cadherin 4 gene DOID:0080586 Van Maldergem syndrome 2 ISO RGD:1342504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Van Maldergem syndrome 2 PMID:22469822|PMID:22473091|PMID:24033266|PMID:24056717|PMID:24913602|PMID:25741868|PMID:2624276|PMID:28492532|PMID:28878612|PMID:30143558|PMID:31384091 11864208 FAT4 FAT atypical cadherin 4 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1342504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459|PMID:28492532 11864208 FAT4 FAT atypical cadherin 4 gene DOID:10907 microcephaly ISO RGD:1342504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11864208 FAT4 FAT atypical cadherin 4 gene DOID:1909 melanoma ISO RGD:1342504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22197931 11864208 FAT4 FAT atypical cadherin 4 gene DOID:2975 cystic kidney disease ISO RGD:1342504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18604206 11864208 FAT4 FAT atypical cadherin 4 gene DOID:299 adenocarcinoma ISO RGD:1342504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22484628 11864208 FAT4 FAT atypical cadherin 4 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1342504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 11864208 FAT4 FAT atypical cadherin 4 gene DOID:5409 lung small cell carcinoma ISO RGD:1342504 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 11864208 FAT4 FAT atypical cadherin 4 gene DOID:630 genetic disease ISO RGD:1342504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11864208 FAT4 FAT atypical cadherin 4 gene DOID:9000217 Stomach Neoplasms ISO RGD:1342504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22484628 11864208 FAT4 FAT atypical cadherin 4 gene DOID:9001947 Hennekam Lymphangiectasia-Lymphedema Syndrome 2 ISO RGD:1342504 D RGD:7240710 20180130 OMIM 11864208 FAT4 FAT atypical cadherin 4 gene DOID:9001947 Hennekam Lymphangiectasia-Lymphedema Syndrome 2 ISO RGD:1342504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 2 PMID:22473091|PMID:24033266|PMID:24056717|PMID:24913602|PMID:25741868|PMID:2624276|PMID:28492532 11864208 FAT4 FAT atypical cadherin 4 gene DOID:9002205 Periventricular Nodular Heterotopia 2 ISO RGD:1342504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24056717 11864208 FAT4 FAT atypical cadherin 4 gene DOID:9003821 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 ISO RGD:1342504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 PMID:25741868 11864208 FAT4 FAT atypical cadherin 4 gene DOID:9006095 Ascites ISO RGD:1342504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ascites PMID:25741868|PMID:28492532 11864208 FAT4 FAT atypical cadherin 4 gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:1342504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY PMID:25741868|PMID:28492532 11864231 RPL5 ribosomal protein L5 gene DOID:0111879 Diamond-Blackfan anemia 6 ISO RGD:731697 D RGD:7240710 20180130 OMIM 11864231 RPL5 ribosomal protein L5 gene DOID:0111879 Diamond-Blackfan anemia 6 ISO RGD:731697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 PMID:19061985|PMID:19191325|PMID:19773262|PMID:20054847|PMID:20960466|PMID:23718193|PMID:23744582|PMID:25741868|PMID:25946618|PMID:28492532|PMID:28694211|PMID:28991257|PMID:30183354|PMID:30503522 11864231 RPL5 ribosomal protein L5 gene DOID:0111895 Diamond-Blackfan anemia 1 ISO RGD:731697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 PMID:19061985|PMID:19191325|PMID:19773262|PMID:20054847|PMID:20960466|PMID:23718193|PMID:25741868|PMID:28492532 11864231 RPL5 ribosomal protein L5 gene DOID:0112131 severe congenital neutropenia 2 ISO RGD:731697 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant PMID:28492532 11864231 RPL5 ribosomal protein L5 gene DOID:12449 aplastic anemia ISO RGD:731697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aplastic anemia PMID:25741868 11864231 RPL5 ribosomal protein L5 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:731697 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:16199547|PMID:17576681|PMID:19061985|PMID:19191325|PMID:19773262|PMID:20054847|PMID:20378560|PMID:20960466|PMID:22689679|PMID:23718193|PMID:23744582|PMID:25741868|PMID:25946618|PMID:27432187|PMID:28492532|PMID:28694211|PMID:28991257|PMID:30183354|PMID:30503522|PMID:33718801|PMID:9536098 11864231 RPL5 ribosomal protein L5 gene DOID:3068 glioblastoma ISO RGD:731697 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:26892688|REF_RGD_ID:11535147 11864231 RPL5 ribosomal protein L5 gene DOID:5119 ovarian cyst ISO RGD:731697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 11864231 RPL5 ribosomal protein L5 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:731697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23263491 11864231 RPL5 ribosomal protein L5 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:731697 D RGD:9068941 20200609 RGD DNA:snps, insertion, deletion:cds:multiple (human) PMID:23263491|REF_RGD_ID:11535135 11864231 RPL5 ribosomal protein L5 gene DOID:630 genetic disease ISO RGD:731697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864254 EXD1 exonuclease 3'-5' domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1605271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11864254 EXD1 exonuclease 3'-5' domain containing 1 gene DOID:630 genetic disease ISO RGD:1605271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864254 EXD1 exonuclease 3'-5' domain containing 1 gene DOID:9256 colorectal cancer ISO RGD:1605271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11864281 TMEM214 transmembrane protein 214 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1606543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11864281 TMEM214 transmembrane protein 214 gene DOID:630 genetic disease ISO RGD:1606543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864281 TMEM214 transmembrane protein 214 gene DOID:9006836 Contracture ISO RGD:1606543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 11864306 OTUD1 OTU deubiquitinase 1 gene DOID:630 genetic disease ISO RGD:1344729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864321 WNT16 Wnt family member 16 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11864321 WNT16 Wnt family member 16 gene DOID:630 genetic disease ISO RGD:1345805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864332 TAF1 TATA-box binding protein associated factor 1 gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:1349671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe combined immunodeficiency PMID:28492532 11864332 TAF1 TATA-box binding protein associated factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1349671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11864332 TAF1 TATA-box binding protein associated factor 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11864332 TAF1 TATA-box binding protein associated factor 1 gene DOID:0090057 X-linked dystonia-parkinsonism ISO RGD:1349671 D RGD:7240710 20180130 OMIM 11864332 TAF1 TATA-box binding protein associated factor 1 gene DOID:0090057 X-linked dystonia-parkinsonism ISO RGD:1349671 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: X-linked dystonia-parkinsonism PMID:17273961|PMID:25741868|PMID:28492532 11864332 TAF1 TATA-box binding protein associated factor 1 gene DOID:1059 intellectual disability ISO RGD:1349671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11864332 TAF1 TATA-box binding protein associated factor 1 gene DOID:12849 autistic disorder ISO RGD:1349671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11864332 TAF1 TATA-box binding protein associated factor 1 gene DOID:1682 congenital heart disease ISO RGD:1349671 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868|PMID:26637982|PMID:28492532|PMID:32396742|PMID:33098347 11864332 TAF1 TATA-box binding protein associated factor 1 gene DOID:630 genetic disease ISO RGD:1349671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11864332 TAF1 TATA-box binding protein associated factor 1 gene DOID:9006249 RADIO-TARTAGLIA SYNDROME ISO RGD:1349671 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Radio-Tartaglia syndrome PMID:25741868|PMID:32396742 11864332 TAF1 TATA-box binding protein associated factor 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1349671 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:26637982 11864332 TAF1 TATA-box binding protein associated factor 1 gene DOID:9007042 Syndromic X-Linked Mental Retardation 33 ISO RGD:1349671 D RGD:7240710 20190315 OMIM 11864332 TAF1 TATA-box binding protein associated factor 1 gene DOID:9007042 Syndromic X-Linked Mental Retardation 33 ISO RGD:1349671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33 | ClinVar Annotator: match by term: TAF1-related syndromic intellectual disability PMID:17576681|PMID:25741868|PMID:26637982|PMID:28492532|PMID:29302074|PMID:31646703|PMID:31985533|PMID:32396742|PMID:33098347|PMID:9536098 11864332 TAF1 TATA-box binding protein associated factor 1 gene DOID:9007898 FG Syndrome 1 ISO RGD:1349671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 11864375 RRP15 ribosomal RNA processing 15 homolog gene DOID:0050439 Usher syndrome ISO RGD:1606298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 11864375 RRP15 ribosomal RNA processing 15 homolog gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1606298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 11864375 RRP15 ribosomal RNA processing 15 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1606298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11864375 RRP15 ribosomal RNA processing 15 homolog gene DOID:630 genetic disease ISO RGD:1606298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864375 RRP15 ribosomal RNA processing 15 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11864384 TRIO trio Rho guanine nucleotide exchange factor gene DOID:0060041 autism spectrum disorder ISO RGD:1318084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11864384 TRIO trio Rho guanine nucleotide exchange factor gene DOID:0060071 pre-malignant neoplasm ISO RGD:1318084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11864384 TRIO trio Rho guanine nucleotide exchange factor gene DOID:0070070 autosomal dominant intellectual developmental disorder 40 ISO RGD:1318084 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 40 PMID:25741868 11864384 TRIO trio Rho guanine nucleotide exchange factor gene DOID:0070074 autosomal dominant intellectual developmental disorder 44 ISO RGD:1318084 D RGD:7240710 20190315 OMIM 11864384 TRIO trio Rho guanine nucleotide exchange factor gene DOID:0070074 autosomal dominant intellectual developmental disorder 44 ISO RGD:1318084 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY PMID:12551902|PMID:18388777|PMID:23033978|PMID:23934111|PMID:24038936|PMID:24896178|PMID:25741868|PMID:26721934|PMID:27418539|PMID:28492532|PMID:28796471|PMID:28928363|PMID:28973398|PMID:31690835|PMID:32109419|PMID:36937954 11864384 TRIO trio Rho guanine nucleotide exchange factor gene DOID:0110486 autosomal recessive nonsyndromic deafness 28 ISO RGD:1318084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 28 PMID:25741868|PMID:28492532|PMID:32109419 11864384 TRIO trio Rho guanine nucleotide exchange factor gene DOID:1059 intellectual disability ISO RGD:1318084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23033978|PMID:24038936|PMID:25741868|PMID:26721934|PMID:27418539|PMID:28492532|PMID:32109419 11864384 TRIO trio Rho guanine nucleotide exchange factor gene DOID:10907 microcephaly ISO RGD:1318084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:32581362 11864384 TRIO trio Rho guanine nucleotide exchange factor gene DOID:12849 autistic disorder ISO RGD:1318084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 11864384 TRIO trio Rho guanine nucleotide exchange factor gene DOID:1826 epilepsy ISO RGD:1318084 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11864384 TRIO trio Rho guanine nucleotide exchange factor gene DOID:630 genetic disease ISO RGD:1318084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10652265|PMID:17391702|PMID:22495306|PMID:23033978|PMID:24038936|PMID:25363768|PMID:25741868|PMID:26721934|PMID:27418539|PMID:28191890|PMID:28492532|PMID:28928363|PMID:28973398|PMID:32109419 11864384 TRIO trio Rho guanine nucleotide exchange factor gene DOID:9000372 Autosomal Dominant Intellectual Developmental Disorder 63 with Macrocephaly ISO RGD:1318084 D RGD:7240710 20200408 OMIM 11864384 TRIO trio Rho guanine nucleotide exchange factor gene DOID:9000372 Autosomal Dominant Intellectual Developmental Disorder 63 with Macrocephaly ISO RGD:1318084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY PMID:25741868|PMID:27418539|PMID:28492532|PMID:28796471|PMID:32109419 11864384 TRIO trio Rho guanine nucleotide exchange factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11864384 TRIO trio Rho guanine nucleotide exchange factor gene DOID:9007188 Liver Neoplasms ISO RGD:1318084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11864384 TRIO trio Rho guanine nucleotide exchange factor gene DOID:9008086 Developmental Disabilities ISO RGD:1318084 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:36937954 11864384 TRIO trio Rho guanine nucleotide exchange factor gene DOID:9008582 Developmental Disease ISO RGD:1318084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11864384 TRIO trio Rho guanine nucleotide exchange factor gene DOID:9119 acute myeloid leukemia ISO RGD:1318084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 11864384 TRIO trio Rho guanine nucleotide exchange factor gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1347094 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0050476 Barth syndrome ISO RGD:1347094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0050800 creatine transporter deficiency ISO RGD:1347094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1347094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21115542 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0081078 ectodermal dysplasia and immunodeficiency 1 ISO RGD:1347094 D RGD:7240710 20180130 OMIM 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0081078 ectodermal dysplasia and immunodeficiency 1 ISO RGD:1347094 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 PMID:11047757|PMID:11179023|PMID:11224521|PMID:11242109|PMID:11484156|PMID:11590134|PMID:117248|PMID:12045264|PMID:14726382|PMID:15100680|PMID:15229184|PMID:15833888|PMID:16228229|PMID:16333836|PMID:16379012|PMID:16532398|PMID:16818673|PMID:16950813|PMID:17072331|PMID:17910706|PMID:18179816|PMID:18222329|PMID:18851874|PMID:19903677|PMID:21622647|PMID:24682681|PMID:25068423|PMID:25741868|PMID:26117626|PMID:28993958|PMID:29077208|PMID:30422821|PMID:31965418|PMID:33224153|PMID:8169255 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1347094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0112003 immunodeficiency 33 ISO RGD:1347094 D RGD:7240710 20180130 OMIM 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0112003 immunodeficiency 33 ISO RGD:1347094 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:11047757|PMID:11179023|PMID:11484156|PMID:11590134|PMID:12459250|PMID:15229184|PMID:15356572|PMID:15577852|PMID:15833888|PMID:16532398|PMID:16818673|PMID:16950813|PMID:18179816|PMID:18222329|PMID:25068423|PMID:25741868|PMID:28993958|PMID:29534156|PMID:30422821|PMID:31965418|PMID:33224153|PMID:8169255 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:10588 adrenoleukodystrophy ISO RGD:1347094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1347094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:12305 Bloch-Sulzberger syndrome ISO RGD:1347094 D RGD:7240710 20180130 OMIM 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:12305 Bloch-Sulzberger syndrome ISO RGD:1347094 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Incontinentia pigmenti syndrome PMID:10839543|PMID:11047757|PMID:11179023|PMID:11224521|PMID:11242109|PMID:11484156|PMID:11590134|PMID:18222329|PMID:18350553|PMID:20412081|PMID:20499091|PMID:25741868|PMID:27368913|PMID:31965418|PMID:8169255|PMID:9450877 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:12365 malaria ISO RGD:1347094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malaria, susceptibility to PMID:10502785|PMID:11601226|PMID:12064920|PMID:15727905|PMID:16329560|PMID:16607506|PMID:1945893|PMID:25741868|PMID:28492532|PMID:29300386|PMID:29339739|PMID:30045279|PMID:30315739|PMID:31489982|PMID:31863082|PMID:3198117|PMID:33051526|PMID:33072997|PMID:34659341|PMID:34762759|PMID:34895177|PMID:35313968|PMID:35840819|PMID:7803800|PMID:8244337|PMID:8471773|PMID:9589612 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:12849 autistic disorder ISO RGD:1347094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:13241 Behcet's disease ISO RGD:1347094 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:1217A>T(D406V)(human) PMID:20412081|REF_RGD_ID:12791269 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:13628 favism ISO RGD:1347094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:10502785|PMID:10627140|PMID:11601226|PMID:12064920|PMID:15727905|PMID:16329560|PMID:16607506|PMID:18046504|PMID:18177777|PMID:1945893|PMID:19589177|PMID:21446359|PMID:25741868|PMID:28492532|PMID:29300386|PMID:29339739|PMID:30045279|PMID:30315739|PMID:31489982|PMID:31862010|PMID:31863082|PMID:3198117|PMID:33051526|PMID:33072997|PMID:34620237|PMID:34659341|PMID:34762759|PMID:34895177|PMID:34989400|PMID:35313968|PMID:35840819|PMID:7803800|PMID:8244337|PMID:8471773|PMID:9589612 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:2237 hepatitis ISO RGD:1620111 D RGD:9068941 20220811 RGD PMID:25173965|PMID:29551768|REF_RGD_ID:153297807|REF_RGD_ID:153305943 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:2729 dyskeratosis congenita ISO RGD:1347094 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:2862 glucosephosphate dehydrogenase deficiency ISO RGD:1347094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: G6PD deficiency | ClinVar Annotator: match by term: Glucose-6-phosphate dehydrogenase deficiency PMID:10502785|PMID:11601226|PMID:12064920|PMID:15727905|PMID:16329560|PMID:16607506|PMID:1945893|PMID:25741868|PMID:28492532|PMID:29300386|PMID:29339739|PMID:30045279|PMID:30315739|PMID:31489982|PMID:31863082|PMID:3198117|PMID:33051526|PMID:33072997|PMID:34659341|PMID:34762759|PMID:34895177|PMID:35313968|PMID:35840819|PMID:7803800|PMID:8244337|PMID:8471773|PMID:9589612 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:3156 hypomelanosis of Ito ISO RGD:1347094 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Incontinentia pigmenti syndrome PMID:10839543|PMID:11047757|PMID:11179023|PMID:11224521|PMID:11242109|PMID:11484156|PMID:11590134|PMID:18222329|PMID:18350553|PMID:20412081|PMID:20499091|PMID:25741868|PMID:27368913|PMID:31965418|PMID:8169255|PMID:9450877 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:3571 liver cancer ISO RGD:1347094 D RGD:9068941 20220811 RGD human cells in mouse model PMID:27367027|REF_RGD_ID:153305911 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:607 paraplegia ISO RGD:1347094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:630 genetic disease ISO RGD:1347094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10502785|PMID:11601226|PMID:12064920|PMID:15727905|PMID:16329560|PMID:16607506|PMID:1945893|PMID:25741868|PMID:28492532|PMID:29077208|PMID:29300386|PMID:29339739|PMID:30045279|PMID:30315739|PMID:31489982|PMID:31863082|PMID:3198117|PMID:33051526|PMID:33072997|PMID:34659341|PMID:34762759|PMID:34895177|PMID:35313968|PMID:35840819|PMID:7803800|PMID:8244337|PMID:8471773|PMID:9589612 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:684 hepatocellular carcinoma ISO RGD:1347094 D RGD:9068941 20220811 RGD protein:decreased expression:liver (human) PMID:22176836|PMID:25173965|REF_RGD_ID:153297813|REF_RGD_ID:153305943 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:684 hepatocellular carcinoma ISO RGD:1620111 D RGD:9068941 20220811 RGD PMID:17292824|PMID:29551768|REF_RGD_ID:153297807|REF_RGD_ID:153305945 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1620111 D RGD:9068941 20220811 RGD PMID:22922425|PMID:24971483|REF_RGD_ID:11079569|REF_RGD_ID:153305947 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:8677 perinatal necrotizing enterocolitis treatment ISO RGD:735223 D RGD:9068941 20200609 RGD PMID:17426653|REF_RGD_ID:12791281 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:8927 learning disability ISO RGD:1347094 D RGD:9068941 20200609 RGD associated with Incontinentia Pigmenti;DNA:deletion:exons: PMID:24489960|REF_RGD_ID:12791267 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30737368 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1347094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30737368 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9002139 AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED ISO RGD:1347094 D RGD:7240710 20220810 OMIM 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9002139 AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED ISO RGD:1347094 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED PMID:25741868|PMID:31874111|PMID:35289316 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:735223 D RGD:9068941 20200609 RGD PMID:22381173|REF_RGD_ID:12791280 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9002457 Experimental Arthritis treatment ISO RGD:735223 D RGD:9068941 20200609 RGD PMID:16684367|REF_RGD_ID:12791276 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9002720 Splenomegaly ISO RGD:1347094 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9005172 Lung Neoplasms ISO RGD:1347094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17114358 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9006263 Experimental Pancreatitis treatment ISO RGD:735223 D RGD:9068941 20200609 RGD PMID:19195057|REF_RGD_ID:12791282 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9256 colorectal cancer ISO 1618153 D RGD:9068941 20220811 RGD PMID:28502111|REF_RGD_ID:153305906 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:735223 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9452 fatty liver disease ISO RGD:1620111 D RGD:9068941 20220825 MouseDO OMIM:228100 11864449 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9778 irritable bowel syndrome treatment ISO RGD:735223 D RGD:9068941 20200609 RGD PMID:22428658|REF_RGD_ID:12791275 11864460 SPPL2C signal peptide peptidase like 2C gene DOID:0050880 Koolen de Vries syndrome ISO RGD:1606947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Koolen-de Vries syndrome PMID:18628315|PMID:21094706|PMID:28492532 11864460 SPPL2C signal peptide peptidase like 2C gene DOID:1059 intellectual disability ISO RGD:1606947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11864460 SPPL2C signal peptide peptidase like 2C gene DOID:630 genetic disease ISO RGD:1606947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864460 SPPL2C signal peptide peptidase like 2C gene DOID:9255 frontotemporal dementia ISO RGD:1606947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:18628315|PMID:21094706|PMID:28492532 11864465 MGAT5 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase gene DOID:576 proteinuria ISO RGD:620100 D RGD:9068941 20200609 RGD PMID:21257920|REF_RGD_ID:12798539 11864465 MGAT5 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase gene DOID:630 genetic disease ISO RGD:737363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864465 MGAT5 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23798564 11864465 MGAT5 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase gene DOID:9006549 Enterovirus Infections ISO RGD:737363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28446605 11864486 SCARA3 scavenger receptor class A member 3 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1319520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11864486 SCARA3 scavenger receptor class A member 3 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1319520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11864486 SCARA3 scavenger receptor class A member 3 gene DOID:630 genetic disease ISO RGD:1319520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864506 VDAC2 voltage dependent anion channel 2 gene DOID:11832 visual epilepsy treatment ISO RGD:621576 D RGD:9068941 20200611 RGD PMID:17893921|REF_RGD_ID:10003051 11864506 VDAC2 voltage dependent anion channel 2 gene DOID:1749 squamous cell carcinoma ISO RGD:731822 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 11864506 VDAC2 voltage dependent anion channel 2 gene DOID:1826 epilepsy ISO RGD:731822 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:17893921 11864506 VDAC2 voltage dependent anion channel 2 gene DOID:3328 temporal lobe epilepsy ISO RGD:621576 D RGD:9068941 20200611 RGD protein:increased expression:hippocampus PMID:18186018|REF_RGD_ID:10003053 11864506 VDAC2 voltage dependent anion channel 2 gene DOID:5844 myocardial infarction treatment ISO RGD:621576 D RGD:9068941 20200611 RGD PMID:20601275|REF_RGD_ID:10003049 11864506 VDAC2 voltage dependent anion channel 2 gene DOID:630 genetic disease ISO RGD:731822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864506 VDAC2 voltage dependent anion channel 2 gene DOID:8398 osteoarthritis ISO RGD:731822 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11864506 VDAC2 voltage dependent anion channel 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:731822 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:19634143 11864506 VDAC2 voltage dependent anion channel 2 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:731822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:22077973|PMID:23436491|PMID:25424711|PMID:27880066|PMID:28492532 11864506 VDAC2 voltage dependent anion channel 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:731822 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 11864506 VDAC2 voltage dependent anion channel 2 gene DOID:9007730 Burns ISO RGD:621576 D RGD:9068941 20200611 RGD PMID:23863682|REF_RGD_ID:10003047 11864516 PLPP5 phospholipid phosphatase 5 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1607002 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 11864516 PLPP5 phospholipid phosphatase 5 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1607002 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 11864516 PLPP5 phospholipid phosphatase 5 gene DOID:607 paraplegia ISO RGD:1607002 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11864516 PLPP5 phospholipid phosphatase 5 gene DOID:630 genetic disease ISO RGD:1607002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864531 UNC13C unc-13 homolog C gene DOID:11836 clubfoot ISO RGD:1354378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:25741868 11864531 UNC13C unc-13 homolog C gene DOID:2717 Bloom syndrome ISO RGD:1354378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11864531 UNC13C unc-13 homolog C gene DOID:630 genetic disease ISO RGD:1354378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864531 UNC13C unc-13 homolog C gene DOID:9256 colorectal cancer ISO RGD:1354378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11864569 PGM2 phosphoglucomutase 2 gene DOID:0080600 COVID-19 ISO RGD:1314459 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11864569 PGM2 phosphoglucomutase 2 gene DOID:630 genetic disease ISO RGD:1314459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864587 LARS1 leucyl-tRNA synthetase 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1312707 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11864587 LARS1 leucyl-tRNA synthetase 1 gene DOID:0080717 infantile liver failure syndrome 1 ISO RGD:1312707 D RGD:7240710 20180130 OMIM 11864587 LARS1 leucyl-tRNA synthetase 1 gene DOID:0080717 infantile liver failure syndrome 1 ISO RGD:1312707 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Infantile liver failure syndrome 1 PMID:22607940|PMID:25051973|PMID:25326635|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30349989|PMID:32699352|PMID:34023347|PMID:34194004 11864587 LARS1 leucyl-tRNA synthetase 1 gene DOID:0080778 transient infantile liver failure ISO RGD:1312707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT PMID:16199547|PMID:25741868|PMID:28492532|PMID:32699352 11864587 LARS1 leucyl-tRNA synthetase 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1312707 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868|PMID:28492532 11864587 LARS1 leucyl-tRNA synthetase 1 gene DOID:10907 microcephaly ISO RGD:1312707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11864587 LARS1 leucyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1312707 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864587 LARS1 leucyl-tRNA synthetase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11864587 LARS1 leucyl-tRNA synthetase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1312707 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11864624 LOC100995596 transducin-like enhancer protein 4 gene DOID:305 carcinoma ISO RGD:733230 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11864624 LOC100995596 transducin-like enhancer protein 4 gene DOID:630 genetic disease ISO RGD:733230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864624 LOC100995596 transducin-like enhancer protein 4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733230 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11864624 LOC100995596 transducin-like enhancer protein 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733230 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11864624 LOC100995596 transducin-like enhancer protein 4 gene DOID:9007102 Myocardial Ischemia ISO RGD:733230 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11864665 LOC103784797 protein PET117 homolog, mitochondrial gene DOID:630 genetic disease ISO RGD:5688594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864665 LOC103784797 protein PET117 homolog, mitochondrial gene DOID:9006233 Mitochondrial Complex IV Deficiency, Nuclear Type 19 ISO RGD:5688594 D RGD:7240710 20201111 OMIM 11864665 LOC103784797 protein PET117 homolog, mitochondrial gene DOID:9006233 Mitochondrial Complex IV Deficiency, Nuclear Type 19 ISO RGD:5688594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 PMID:25741868|PMID:28386624 11864707 NRIP3 nuclear receptor interacting protein 3 gene DOID:630 genetic disease ISO RGD:1312415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864724 TLX3 T cell leukemia homeobox 3 gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:1615148 D RGD:9068941 20220825 MouseDO OMIM:209880 11864724 TLX3 T cell leukemia homeobox 3 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1353737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11864724 TLX3 T cell leukemia homeobox 3 gene DOID:630 genetic disease ISO RGD:1353737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864730 PRXL2C peroxiredoxin like 2C gene DOID:1059 intellectual disability ISO RGD:1313944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11864730 PRXL2C peroxiredoxin like 2C gene DOID:630 genetic disease ISO RGD:1313944 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864740 MRPL21 mitochondrial ribosomal protein L21 gene DOID:1059 intellectual disability ISO RGD:1320967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11864740 MRPL21 mitochondrial ribosomal protein L21 gene DOID:630 genetic disease ISO RGD:1320967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864740 MRPL21 mitochondrial ribosomal protein L21 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1320967 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11864740 MRPL21 mitochondrial ribosomal protein L21 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1320967 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11864744 SLC5A7 solute carrier family 5 member 7 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1348839 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:25741868|PMID:30192042 11864744 SLC5A7 solute carrier family 5 member 7 gene DOID:0110661 congenital myasthenic syndrome 20 ISO RGD:1348839 D RGD:7240710 20190315 OMIM 11864744 SLC5A7 solute carrier family 5 member 7 gene DOID:0110661 congenital myasthenic syndrome 20 ISO RGD:1348839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 20 PMID:25741868|PMID:27569547|PMID:28492532 11864744 SLC5A7 solute carrier family 5 member 7 gene DOID:0111201 distal hereditary motor neuronopathy type 7A ISO RGD:1348839 D RGD:7240710 20180130 OMIM 11864744 SLC5A7 solute carrier family 5 member 7 gene DOID:0111201 distal hereditary motor neuronopathy type 7A ISO RGD:1348839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A PMID:11294660|PMID:16199547|PMID:17576681|PMID:23141292|PMID:25741868|PMID:27569547|PMID:28492532|PMID:7420092|PMID:9536098 11864744 SLC5A7 solute carrier family 5 member 7 gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1348839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant PMID:10431241|PMID:10431242|PMID:18854857|PMID:20979233|PMID:28492532|PMID:28981473 11864744 SLC5A7 solute carrier family 5 member 7 gene DOID:10283 prostate cancer ISO RGD:1348839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11864744 SLC5A7 solute carrier family 5 member 7 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1348839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11294660|PMID:23141292|PMID:7420092 11864744 SLC5A7 solute carrier family 5 member 7 gene DOID:12377 spinal muscular atrophy ISO RGD:1348839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:28492532 11864744 SLC5A7 solute carrier family 5 member 7 gene DOID:1470 major depressive disorder ISO RGD:1348839 D RGD:9068941 20220128 RGD mRNA:decreased expression:habenula: PMID:28420875|REF_RGD_ID:151347550 11864744 SLC5A7 solute carrier family 5 member 7 gene DOID:1596 depressive disorder ISO RGD:1348839 D RGD:9068941 20220128 RGD mRNA:decreased expression:habenula: PMID:28420875|REF_RGD_ID:151347550 11864744 SLC5A7 solute carrier family 5 member 7 gene DOID:2841 asthma ISO RGD:69270 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:17328924|REF_RGD_ID:5686690 11864744 SLC5A7 solute carrier family 5 member 7 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1348839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11864744 SLC5A7 solute carrier family 5 member 7 gene DOID:630 genetic disease ISO RGD:1348839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:27569547|PMID:28492532|PMID:9536098 11864744 SLC5A7 solute carrier family 5 member 7 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1348839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:28492532 11864744 SLC5A7 solute carrier family 5 member 7 gene DOID:9004283 Transplant Rejection ISO RGD:69270 D RGD:9068941 20200609 RGD protein:increased expression:kidney, mononuclear cell PMID:19201987|REF_RGD_ID:9999387 11864769 MED30 mediator complex subunit 30 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1319681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11864769 MED30 mediator complex subunit 30 gene DOID:206 hereditary multiple exostoses ISO RGD:1319681 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 11864769 MED30 mediator complex subunit 30 gene DOID:630 genetic disease ISO RGD:1319681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864779 C15H15orf40 chromosome 15 C15orf40 homolog gene DOID:13938 amenorrhea ISO RGD:1604247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11864779 C15H15orf40 chromosome 15 C15orf40 homolog gene DOID:2717 Bloom syndrome ISO RGD:1604247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11864779 C15H15orf40 chromosome 15 C15orf40 homolog gene DOID:630 genetic disease ISO RGD:1604247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864779 C15H15orf40 chromosome 15 C15orf40 homolog gene DOID:9256 colorectal cancer ISO RGD:1604247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11864800 SEMA6C semaphorin 6C gene DOID:0111940 immunodeficiency 42 ISO RGD:732717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11864800 SEMA6C semaphorin 6C gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11864800 SEMA6C semaphorin 6C gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11864800 SEMA6C semaphorin 6C gene DOID:1540 parathyroid carcinoma ISO RGD:732717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11864800 SEMA6C semaphorin 6C gene DOID:5812 MHC class II deficiency ISO RGD:732717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11864800 SEMA6C semaphorin 6C gene DOID:630 genetic disease ISO RGD:732717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864800 SEMA6C semaphorin 6C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11864825 PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 gene DOID:1459 hypothyroidism ISO RGD:631339 D RGD:9068941 20200609 RGD mRNA:decreased expression:multiple organs PMID:15817667|REF_RGD_ID:2314536 11864825 PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11864825 PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 gene DOID:630 genetic disease ISO RGD:1346467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 11864825 PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1346467 D RGD:9068941 20230105 RGD mRNA, protein:increased expression:liver (human) PMID:29059470|REF_RGD_ID:155791679 11864825 PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1553789 D RGD:9068941 20230105 RGD PMID:29059470|REF_RGD_ID:155791679 11864825 PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1346467 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Intracerebral hemorrhage PMID:25741868|PMID:28492532 11864825 PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 gene DOID:9004209 Bone Fragility with Contractures, Arterial Rupture, and Deafness ISO RGD:1346467 D RGD:7240710 20180130 OMIM 11864825 PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 gene DOID:9004209 Bone Fragility with Contractures, Arterial Rupture, and Deafness ISO RGD:1346467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bone fragility with contractures, arterial rupture, and deafness | ClinVar Annotator: match by term: PLOD3-Related Disorder PMID:18834968|PMID:25741868|PMID:28492532|PMID:30089812 11864825 PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 gene DOID:9008533 Plasminogen Activator Inhibitor-1 Deficiency ISO RGD:1346467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY PMID:21681106 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0050589 inflammatory bowel disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:18849144|REF_RGD_ID:5686819 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0050700 cardiomyopathy ISO RGD:1552054 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:23723143|REF_RGD_ID:8695930 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0050700 cardiomyopathy disease_progression ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with inflammation; mRNA, protein:increased expression:heart, plasma PMID:21278397|REF_RGD_ID:5686895 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0050700 cardiomyopathy treatment ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:23723143|REF_RGD_ID:8695930 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0050830 peripheral artery disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16321391|REF_RGD_ID:5686716 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0050847 sleep apnea ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:19913847|REF_RGD_ID:5686853 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:23181352|REF_RGD_ID:8694469 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0060180 colitis ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:21479819|REF_RGD_ID:5686898 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0060180 colitis ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:17604368|REF_RGD_ID:5686754 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0060575 3MC syndrome 1 ISO RGD:1351472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20415685 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:15239085|REF_RGD_ID:5686660 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1552054 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:19606393|REF_RGD_ID:5686841 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:628748 D RGD:9068941 20200609 RGD associated with obesity;protein:decreased expression:serum: PMID:21255792|REF_RGD_ID:5686355 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:628748 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:22152320|REF_RGD_ID:5685373 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0080208 non-alcoholic fatty liver disease disease_progression ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Obesity, Morbid; PMID:18713296|REF_RGD_ID:5686810 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:1351472 D RGD:9068941 20200609 RGD DNA:SNPs:5'utr, :-11377C>G, +45T>G (rs266729, rs2241766) (human) PMID:22269154|REF_RGD_ID:14401719 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus;DNA:SNP:5' utr:-11377C>G (rs266729) (human) PMID:26042596|REF_RGD_ID:11076260 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:1351472 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:27860427|REF_RGD_ID:14401717 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0081267 graft-versus-host disease severity ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21258011|REF_RGD_ID:5686893 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:10140 dry eye syndrome treatment ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:23211823|REF_RGD_ID:8694422 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:10652 Alzheimer's disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid, plasma PMID:20727007|REF_RGD_ID:5686881 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:10652 Alzheimer's disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22213409|REF_RGD_ID:5686377 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:1070 primary open angle glaucoma ISO RGD:1351472 D RGD:9068941 20200609 RGD DNA:SNP: :rs2241766 (human) PMID:22553514|REF_RGD_ID:8547563 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:10763 hypertension ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12860835 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:11396 pulmonary edema ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25945502 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:11612 polycystic ovary syndrome ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:16868149|REF_RGD_ID:8694433 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:1168 familial hyperlipidemia treatment ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:24308182|REF_RGD_ID:8695929 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:11714 gestational diabetes ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15126557 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:11714 gestational diabetes ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19626510|REF_RGD_ID:2313236 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:11714 gestational diabetes treatment ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:23608331|REF_RGD_ID:8695950 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:11832 visual epilepsy ISO RGD:1552054 D RGD:9068941 20200609 RGD associated with metabolic syndrome X; PMID:21976521|REF_RGD_ID:5686407 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:1206 Rett syndrome ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:18710461|REF_RGD_ID:5686812 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:12361 Graves' disease ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with thyroid diseases; protein:increased expression:serum PMID:20583542|REF_RGD_ID:5686857 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:12361 Graves' disease severity ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18997483|REF_RGD_ID:5686818 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:12858 Huntington's disease ISO RGD:1552054 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:19124532|REF_RGD_ID:5686822 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:1287 cardiovascular system disease ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:17893004|REF_RGD_ID:5686800 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:1287 cardiovascular system disease ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNPs: :-11365C>G, 276G>T (human) PMID:16644713|REF_RGD_ID:5686750 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:1287 cardiovascular system disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16822679|REF_RGD_ID:5686752 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:1287 cardiovascular system disease disease_progression ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:22207678|REF_RGD_ID:5686379 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:1307 dementia ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22213409|REF_RGD_ID:5686377 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:13207 proliferative diabetic retinopathy ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:aqueous humor PMID:22563689|REF_RGD_ID:8694466 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:13241 Behcet's disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21044750|REF_RGD_ID:8694430 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:13378 Kawasaki disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16982510|REF_RGD_ID:5686751 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:13608 biliary atresia ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21356120|REF_RGD_ID:5686894 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:1580 diffuse scleroderma severity ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:21615510|REF_RGD_ID:8694418 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:1612 breast cancer ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:17192291|REF_RGD_ID:8694447 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:1612 breast cancer ISO RGD:1351472 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1501299, rs2241766 (human) PMID:18451143|REF_RGD_ID:8694415 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:1612 breast cancer ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:16019138|REF_RGD_ID:8694425 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:1612 breast cancer no_association ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:19723917|REF_RGD_ID:8694417 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:178 vascular disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17893004|REF_RGD_ID:5686800 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:1936 atherosclerosis ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18931039 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:1936 atherosclerosis treatment ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:12451000|REF_RGD_ID:8694473 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:2018 hyperinsulinism ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:16414018|REF_RGD_ID:1599145 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:2048 autoimmune hepatitis ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19301087|REF_RGD_ID:5686833 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:2377 multiple sclerosis ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20714168|REF_RGD_ID:5686885 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:2526 prostate adenocarcinoma susceptibility ISO RGD:1351472 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:5' utr, introns, exon:multiple PMID:21397927|REF_RGD_ID:8694410 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:2755 Mycobacterium avium complex disease ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with pulmonary diseases; protein:increased expression:serum PMID:19641295|REF_RGD_ID:5686838 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:2841 asthma ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:19168697|REF_RGD_ID:5686821 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:2957 pulmonary tuberculosis ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22022605|REF_RGD_ID:5686405 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:2987 familial Mediterranean fever ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20518740|REF_RGD_ID:5686880 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X;protein:decreased expression:serum PMID:21179920|REF_RGD_ID:5686825 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:22207678|REF_RGD_ID:5686379 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:3312 bipolar disorder ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22137759|REF_RGD_ID:5686381 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:3362 coronary aneurysm ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Mucocutaneous Lymph Node Syndrome;protein:increased expression:serum PMID:22683371|REF_RGD_ID:8694456 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:3393 coronary artery disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:adipose tissue PMID:17878891|REF_RGD_ID:5686802 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:3454 brain infarction ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:19362080|REF_RGD_ID:5686830 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:3770 pulmonary fibrosis ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25945502 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:4195 hyperglycemia ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29991592 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:4247 coronary restenosis ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12138120 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:4450 renal cell carcinoma ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29723618 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:5082 liver cirrhosis severity ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16115302|REF_RGD_ID:5686674 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:5844 myocardial infarction disease_progression ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:21326342|REF_RGD_ID:5686351 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:6000 congestive heart failure ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19367012|PMID:26670611 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:6000 congestive heart failure ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with cardiovascular disease; protein:increased expression:plasma PMID:22032915|REF_RGD_ID:5686388 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:6000 congestive heart failure ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18192035|REF_RGD_ID:5686806 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:630 genetic disease ISO RGD:1351472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:6432 pulmonary hypertension ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:19168697|REF_RGD_ID:5686821 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1351472 D RGD:9068941 20200609 RGD DNA:SNP:intron:+276T>G (rs1501299) (human) PMID:23740135|REF_RGD_ID:14401720 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:7147 ankylosing spondylitis ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21122270|REF_RGD_ID:5686891 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:7148 rheumatoid arthritis ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:7148 rheumatoid arthritis ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21789720|REF_RGD_ID:5686424 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:783 end stage renal disease ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19539174 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:783 end stage renal disease ISO RGD:628748 D RGD:9068941 20200609 RGD protein:increased expression:serum, urine PMID:24028144|REF_RGD_ID:8695941 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:7998 hyperthyroidism ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:17161219|REF_RGD_ID:1599133 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:820 myocarditis ISO RGD:1552054 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart, plasma PMID:21278397|REF_RGD_ID:5686895 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:8577 ulcerative colitis ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16432373|REF_RGD_ID:5686726 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:8778 Crohn's disease ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21829567 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:8778 Crohn's disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16432373|REF_RGD_ID:5686726 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:8947 diabetic retinopathy ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :g.45T>G (human) PMID:24655058|REF_RGD_ID:8694412 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:8947 diabetic retinopathy disease_progression ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum PMID:17970779|REF_RGD_ID:8694475 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9000039 Spinal Cord Injuries ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16213239|REF_RGD_ID:5686719 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:22230897|REF_RGD_ID:8695949 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9000528 Coronary Disease ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Diabetes mellitus, Type2; PMID:22019747|REF_RGD_ID:5686406 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9000528 Coronary Disease disease_progression ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:22207678|REF_RGD_ID:5686379 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9001044 Choroidal Neovascularization ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:16689928|REF_RGD_ID:2289282 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:17466298|REF_RGD_ID:8694464 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:22633972|REF_RGD_ID:8695931 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14724832 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9001981 Weight Loss ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18230824 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:23762489|REF_RGD_ID:8695935 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17942768 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs2241766 (human) PMID:23260797|REF_RGD_ID:8694443 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21945031|REF_RGD_ID:5686409 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum PMID:17970779|REF_RGD_ID:8694475 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs1501299 (human) PMID:23260797|REF_RGD_ID:8694443 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:23533720|REF_RGD_ID:8695947 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9002311 Experimental Autoimmune Myocarditis ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:23674516|REF_RGD_ID:8695925 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9002457 Experimental Arthritis ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326410 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9002457 Experimental Arthritis ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:19026984|REF_RGD_ID:5686814 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9002457 Experimental Arthritis ISO RGD:628748 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21681567|REF_RGD_ID:5685385 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9002775 Cognitive Dysfunction ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid, plasma PMID:20727007|REF_RGD_ID:5686881 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:19342600|REF_RGD_ID:7394795 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19725899|REF_RGD_ID:5686851 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9004009 Reperfusion Injury ISO RGD:628748 D RGD:9068941 20200609 RGD associated with Non-alcoholic Fatty Liver Disease; PMID:18098300|REF_RGD_ID:5686804 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9004017 Chronic Hepatitis C ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:26293833|REF_RGD_ID:14401718 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9004484 Sepsis ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:19481767|REF_RGD_ID:5686835 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9004484 Sepsis ISO RGD:1552054 D RGD:9068941 20200609 RGD mRNA, protein:decreasedexpression:serum, omental fat pad: PMID:21962804|REF_RGD_ID:5686408 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9004484 Sepsis ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:16488436|REF_RGD_ID:1599144 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9004610 Acute Lung Injury ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:22156343|REF_RGD_ID:5686380 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1552054 D RGD:9068941 20200609 RGD associated with Sepsis PMID:23522481|REF_RGD_ID:8695940 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with hypertension, overweight;protein:decreased expression:serum PMID:22053557|REF_RGD_ID:5686385 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9004657 Weight Gain ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12860835 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9004898 Jaundice ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Biliary Atresia; protein:increased expression:serum PMID:21356120|REF_RGD_ID:5686894 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:19447866|REF_RGD_ID:8694414 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:22246620|REF_RGD_ID:8694468 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9005372 Inflammation ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12860835 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1552054 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:23174569|REF_RGD_ID:8694416 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628748 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:adipose tissue, serum PMID:16201273|REF_RGD_ID:1599146 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9005930 Endotoxemia ISO RGD:628748 D RGD:9068941 20200609 RGD associated with Obesity PMID:23838384|REF_RGD_ID:8695926 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9006191 Hypoadiponectinemia ISO RGD:1351472 D RGD:7240710 20180130 OMIM 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9006191 Hypoadiponectinemia ISO RGD:1351472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 | ClinVar Annotator: match by term: Hypoadiponectinemia PMID:10918532|PMID:12878598 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9006218 Masked Hypertension ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:19222669|REF_RGD_ID:5686820 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:21412771|REF_RGD_ID:8695946 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9006599 Hypertriglyceridemia ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with HIV Infections PMID:21595566|REF_RGD_ID:8694463 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9006646 Metabolic Syndrome ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16793964|PMID:17618945|PMID:18162013|PMID:20833989 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9006646 Metabolic Syndrome ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP: :276G>T (human) PMID:19690575|REF_RGD_ID:2313234 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9006646 Metabolic Syndrome ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with vascular diseases; protein:decreased expression:plasma PMID:17893004|REF_RGD_ID:5686800 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9006646 Metabolic Syndrome ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:21625822|REF_RGD_ID:5686428 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9006646 Metabolic Syndrome ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:21976521|REF_RGD_ID:5686407 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16115302|REF_RGD_ID:5686674 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:628748 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type2;mRNA, protein:decreased expression:heart, serum PMID:24669271|REF_RGD_ID:8695938 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9007096 Stroke ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:20047566|REF_RGD_ID:5686856 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9007096 Stroke ISO RGD:1552054 D RGD:9068941 20200609 RGD protein:increased expression:plasma,brain PMID:19699724|REF_RGD_ID:5686837 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9007102 Myocardial Ischemia ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16155579 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9007329 Human Viral Hepatitis ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16115302|REF_RGD_ID:5686674 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20709802 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9007692 Insulin Resistance ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18931039|PMID:21484566 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9007692 Insulin Resistance ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:16041833|REF_RGD_ID:1599150 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9007692 Insulin Resistance treatment ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:21872431|REF_RGD_ID:8695928 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9007692 Insulin Resistance treatment ISO RGD:628748 D RGD:9068941 20200609 RGD associated with Hypertension PMID:23089228|REF_RGD_ID:8695951 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16155579 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9008212 Diabetic Foot ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:20836881|REF_RGD_ID:5686889 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9008856 HIV-Associated Lipodystrophy Syndrome ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:12876073|REF_RGD_ID:8694470 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9009039 Hyperemia ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12860835 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9074 systemic lupus erythematosus ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:19109165|REF_RGD_ID:5686827 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9120 amyloidosis ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Periodic fever, familial, autosomal dominant;protein:increased expression:serum PMID:22935190|REF_RGD_ID:8694455 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9351 diabetes mellitus ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12860835 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12114044|PMID:12354786|PMID:15734870 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:19622782|PMID:28843383|REF_RGD_ID:14975146|REF_RGD_ID:2313238 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351472 D RGD:9068941 20200609 RGD DNA:SNP: :g.45T>G (human) PMID:24655058|REF_RGD_ID:8694412 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with myocardial infarction;protein:decreased expression: : PMID:18472407|REF_RGD_ID:5686807 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16822679|REF_RGD_ID:5686752 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:19708766|REF_RGD_ID:2313230 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:628748 D RGD:9068941 20200609 RGD protein:decreased expression:plasma, myocardium: PMID:21155820|REF_RGD_ID:5686359 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9452 fatty liver disease ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with hepatitis C;protein:increased expression:serum PMID:20714777|REF_RGD_ID:5686883 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9452 fatty liver disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16115302|REF_RGD_ID:5686674 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9452 fatty liver disease ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:17006986|REF_RGD_ID:1599139 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9675 pulmonary emphysema ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:20935231|REF_RGD_ID:5686887 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9744 type 1 diabetes mellitus ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:19640330|REF_RGD_ID:2313235 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9970 obesity ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11549668 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9970 obesity ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10092513|PMID:14617771 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9970 obesity ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:19606374|PMID:28843383|REF_RGD_ID:14975146|REF_RGD_ID:2313239 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9970 obesity ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive; protein:decreased expression:plasma PMID:18303100|REF_RGD_ID:5686809 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9970 obesity ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with myocardial infarction; protein:decreased expression:plasma PMID:18651432|REF_RGD_ID:5686813 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9970 obesity ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:16092047|REF_RGD_ID:1599149 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9970 obesity treatment ISO RGD:628748 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:23731386|REF_RGD_ID:8695927 11864848 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9976 heroin dependence ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15717844 11864861 TLR1 toll like receptor 1 gene DOID:1024 leprosy ISO RGD:1320607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 | ClinVar Annotator: match by term: Leprosy, susceptibility to, 5 PMID:17475868|PMID:17548585|PMID:18461142|PMID:19456232|PMID:23105135|PMID:26729809 11864861 TLR1 toll like receptor 1 gene DOID:1024 leprosy susceptibility ISO RGD:1320607 D RGD:7240710 20190502 OMIM 11864861 TLR1 toll like receptor 1 gene DOID:11400 pyelonephritis susceptibility ISO RGD:1320607 D RGD:9068941 20200609 RGD DNA:snp:cds:p.S602I (human) PMID:19543401|REF_RGD_ID:7246906 11864861 TLR1 toll like receptor 1 gene DOID:13564 aspergillosis susceptibility ISO RGD:1320607 D RGD:9068941 20200609 RGD DNA:SNPs: :p.R80T, p.N248S (human) PMID:16461792|REF_RGD_ID:4889535 11864861 TLR1 toll like receptor 1 gene DOID:2841 asthma susceptibility ISO RGD:1320607 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:18547625|REF_RGD_ID:4889528 11864861 TLR1 toll like receptor 1 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1320608 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (mouse) PMID:18256364|REF_RGD_ID:7246909 11864861 TLR1 toll like receptor 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:1320607 D RGD:9068941 20200609 RGD mRNA:increased expression:blood PMID:16493059|REF_RGD_ID:4889525 11864861 TLR1 toll like receptor 1 gene DOID:2986 IgA glomerulonephritis susceptibility ISO RGD:1320607 D RGD:9068941 20200609 RGD DNA:snps:promoter, cds:g.-414C>T, p.N248S (rs5743557, rs4833095) (human) PMID:21108742|REF_RGD_ID:7246898 11864861 TLR1 toll like receptor 1 gene DOID:399 tuberculosis susceptibility ISO RGD:1320607 D RGD:9068941 20200609 RGD DNA:snps, haplotype:cds:p.N248S, p.S602I (human) PMID:18091991|REF_RGD_ID:7246918 11864861 TLR1 toll like receptor 1 gene DOID:630 genetic disease ISO RGD:1320607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864861 TLR1 toll like receptor 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1320607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis PMID:32594150 11864861 TLR1 toll like receptor 1 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1309975 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum PMID:19608731|REF_RGD_ID:5128779 11864861 TLR1 toll like receptor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1320608 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord (mouse) PMID:21970496|REF_RGD_ID:7246886 11864861 TLR1 toll like receptor 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1320608 D RGD:9068941 20200609 RGD PMID:21970496|REF_RGD_ID:7246886 11864861 TLR1 toll like receptor 1 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1320607 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 11864861 TLR1 toll like receptor 1 gene DOID:9000998 Brain Injuries ISO RGD:1320607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 11864861 TLR1 toll like receptor 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1320607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18466103 11864869 SANBR SANT and BTB domain regulator of CSR gene DOID:0080485 peroxisome biogenesis disorder 11A ISO RGD:1606998 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) PMID:19449432|PMID:28492532 11864869 SANBR SANT and BTB domain regulator of CSR gene DOID:630 genetic disease ISO RGD:1606998 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864913 MICAL1 microtubule associated monooxygenase, calponin and LIM domain containing 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1604315 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 11864913 MICAL1 microtubule associated monooxygenase, calponin and LIM domain containing 1 gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:1604315 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:25741868|PMID:28492532 11864913 MICAL1 microtubule associated monooxygenase, calponin and LIM domain containing 1 gene DOID:0090009 immunodeficiency-centromeric instability-facial anomalies syndrome 2 ISO RGD:1604315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 2 PMID:28492532 11864913 MICAL1 microtubule associated monooxygenase, calponin and LIM domain containing 1 gene DOID:630 genetic disease ISO RGD:1604315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11864913 MICAL1 microtubule associated monooxygenase, calponin and LIM domain containing 1 gene DOID:9004342 Familial Temporal Epilepsy ISO RGD:1604315 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: MICAL1-related Lateral temporal epilepsy PMID:17576681|PMID:28492532|PMID:9536098 11864945 TCIM transcriptional and immune response regulator gene DOID:684 hepatocellular carcinoma ISO RGD:1346279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11864950 ASB1 ankyrin repeat and SOCS box containing 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1321850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11864950 ASB1 ankyrin repeat and SOCS box containing 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1321850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11864950 ASB1 ankyrin repeat and SOCS box containing 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1321850 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11864950 ASB1 ankyrin repeat and SOCS box containing 1 gene DOID:1059 intellectual disability ISO RGD:1321850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11864950 ASB1 ankyrin repeat and SOCS box containing 1 gene DOID:630 genetic disease ISO RGD:1321850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11864950 ASB1 ankyrin repeat and SOCS box containing 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1321850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11864962 TUB TUB bipartite transcription factor gene DOID:0060041 autism spectrum disorder ISO RGD:1343505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11864962 TUB TUB bipartite transcription factor gene DOID:630 genetic disease ISO RGD:1343505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11864962 TUB TUB bipartite transcription factor gene DOID:8501 fundus dystrophy ISO RGD:1343505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17576681|PMID:28492532|PMID:9536098 11864962 TUB TUB bipartite transcription factor gene DOID:9009014 Retinal Dystrophy and Obesity ISO RGD:1343505 D RGD:7240710 20180130 OMIM 11864962 TUB TUB bipartite transcription factor gene DOID:9009014 Retinal Dystrophy and Obesity ISO RGD:1343505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy and obesity PMID:16199547|PMID:24375934|PMID:25741868|PMID:28492532|PMID:31785789 11864962 TUB TUB bipartite transcription factor gene DOID:9970 obesity ISO RGD:732108 D RGD:9068941 20220825 MouseDO OMIM:601665 11864962 TUB TUB bipartite transcription factor gene DOID:9970 obesity no_association ISO RGD:1343505 D RGD:9068941 20200609 RGD PMID:8772727|REF_RGD_ID:1625564 11864962 TUB TUB bipartite transcription factor gene DOID:9970 obesity susceptibility ISO RGD:732108 D RGD:9068941 20200609 RGD DNA:splice-site mutation PMID:8612280|REF_RGD_ID:1625565 11864987 CLRN1 clarin 1 gene DOID:0050439 Usher syndrome ISO RGD:737108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Usher syndrome PMID:11524702|PMID:15521980|PMID:17407589|PMID:17893653|PMID:19753315|PMID:21675857|PMID:22952768|PMID:23304067|PMID:24033266|PMID:24498627|PMID:25472526|PMID:25741868|PMID:25743179|PMID:26338283|PMID:27460420|PMID:28224992|PMID:28492532|PMID:29545425|PMID:31097578|PMID:31836858|PMID:31963381|PMID:35481838|PMID:7407589 11864987 CLRN1 clarin 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:737108 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 11864987 CLRN1 clarin 1 gene DOID:0110373 retinitis pigmentosa 61 ISO RGD:737108 D RGD:7240710 20180130 OMIM 11864987 CLRN1 clarin 1 gene DOID:0110373 retinitis pigmentosa 61 ISO RGD:737108 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 61 PMID:11524702|PMID:12080385|PMID:12145752|PMID:14569126|PMID:16028794|PMID:17893653|PMID:18281613|PMID:19423712|PMID:19753315|PMID:21310491|PMID:22681893|PMID:22787034|PMID:22952768|PMID:23304067|PMID:24033266|PMID:25741868|PMID:26180195|PMID:26338283|PMID:28041643|PMID:28492532|PMID:30311386 11864987 CLRN1 clarin 1 gene DOID:0110828 Usher syndrome type 3 ISO RGD:737108 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Usher syndrome type 3 PMID:11524702|PMID:12080385|PMID:12145752|PMID:14569126|PMID:15521980|PMID:16028794|PMID:17407589|PMID:17576681|PMID:17893653|PMID:18281613|PMID:19423712|PMID:19753315|PMID:20717163|PMID:21675857|PMID:22135276|PMID:22681893|PMID:22787034|PMID:22952768|PMID:23304067|PMID:24033266|PMID:24498627|PMID:24596593|PMID:25268133|PMID:25741868|PMID:25743179|PMID:26180195|PMID:26338283|PMID:27460420|PMID:27610647|PMID:28041643|PMID:28224992|PMID:28471114|PMID:28492532|PMID:29545425|PMID:30311386|PMID:31097578|PMID:31213501|PMID:31836858|PMID:31960602|PMID:31963381|PMID:35481838|PMID:7407589|PMID:9536098 11864987 CLRN1 clarin 1 gene DOID:0110841 Usher syndrome type 3A ISO RGD:737108 D RGD:7240710 20180130 OMIM 11864987 CLRN1 clarin 1 gene DOID:0110841 Usher syndrome type 3A ISO RGD:737108 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIIA | ClinVar Annotator: match by term: Usher syndrome type 3A PMID:11524702|PMID:12080385|PMID:12145752|PMID:14569126|PMID:15521980|PMID:16028794|PMID:17407589|PMID:17893653|PMID:18281613|PMID:19423712|PMID:19753315|PMID:21310491|PMID:22135276|PMID:22681893|PMID:22787034|PMID:22952768|PMID:23304067|PMID:24033266|PMID:24498627|PMID:24596593|PMID:25268133|PMID:25741868|PMID:25743179|PMID:26180195|PMID:26338283|PMID:26467025|PMID:27460420|PMID:27610647|PMID:28041643|PMID:28224992|PMID:28471114|PMID:28492532|PMID:29545425|PMID:30311386|PMID:31097578|PMID:31213501|PMID:31836858|PMID:31960602|PMID:31963381|PMID:35481838|PMID:7407589 11864987 CLRN1 clarin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:737108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11524702|PMID:12080385|PMID:12145752|PMID:14569126|PMID:15521980|PMID:16028794|PMID:18281613|PMID:19423712|PMID:19753315|PMID:20717163|PMID:22787034|PMID:23304067|PMID:24033266|PMID:24498627|PMID:24596593|PMID:25741868|PMID:26180195|PMID:27460420|PMID:28041643|PMID:28492532|PMID:30311386|PMID:30718709 11864987 CLRN1 clarin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:737108 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:11524702|PMID:12080385|PMID:12145752|PMID:14569126|PMID:15521980|PMID:16028794|PMID:17893653|PMID:18281613|PMID:19423712|PMID:19753315|PMID:20717163|PMID:22681893|PMID:22787034|PMID:22952768|PMID:23304067|PMID:24033266|PMID:24498627|PMID:24596593|PMID:25741868|PMID:26180195|PMID:26338283|PMID:27460420|PMID:28041643|PMID:28492532|PMID:30311386|PMID:30718709 11864987 CLRN1 clarin 1 gene DOID:14702 branchiootorenal syndrome ISO RGD:737108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Melnick-Fraser syndrome PMID:28492532|PMID:30311386 11864987 CLRN1 clarin 1 gene DOID:630 genetic disease ISO RGD:737108 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11864987 CLRN1 clarin 1 gene DOID:8501 fundus dystrophy ISO RGD:737108 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11524702|PMID:12080385|PMID:12145752|PMID:14569126|PMID:15521980|PMID:16028794|PMID:17893653|PMID:18281613|PMID:19423712|PMID:19753315|PMID:21310491|PMID:22787034|PMID:22952768|PMID:23304067|PMID:24033266|PMID:24498627|PMID:25741868|PMID:26180195|PMID:26338283|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29545425|PMID:31836858|PMID:31963381|PMID:35481838 11864987 CLRN1 clarin 1 gene DOID:9004538 Hearing Loss ISO RGD:737108 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:11524702|PMID:12145752|PMID:19753315|PMID:20717163|PMID:22681893|PMID:24033266|PMID:25741868|PMID:27460420|PMID:28492532|PMID:30311386 11865001 ZDHHC24 zinc finger DHHC-type containing 24 gene DOID:0050439 Usher syndrome ISO RGD:1602172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:15314642|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20301537|PMID:20498079|PMID:21052717|PMID:21642631|PMID:22581970|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:28041643|PMID:28492532|PMID:29264490|PMID:30614526|PMID:30718709|PMID:33532864 11865001 ZDHHC24 zinc finger DHHC-type containing 24 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1602172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:10564830|PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:12920096|PMID:15314642|PMID:15666242|PMID:15770229|PMID:16199547|PMID:16327777|PMID:16582908|PMID:16877420|PMID:17003356|PMID:17065520|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:19858128|PMID:20177705|PMID:20301537|PMID:20472660|PMID:20498079|PMID:20876674|PMID:21052717|PMID:21258341|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22773737|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23432027|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24400638|PMID:24746959|PMID:25074776|PMID:25170860|PMID:25326635|PMID:25741868|PMID:25982971|PMID:25988237|PMID:26467025|PMID:26518167|PMID:26566502|PMID:26872967|PMID:27032803|PMID:27434533|PMID:27624628|PMID:27659767|PMID:27788217|PMID:28041643|PMID:28143435|PMID:28224992|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29264490|PMID:29588463|PMID:30076350|PMID:30259503|PMID:30484961|PMID:30614526|PMID:30718709|PMID:31130284|PMID:31836858|PMID:32165824|PMID:32349990|PMID:32451492|PMID:33532864|PMID:33594065|PMID:34526762|PMID:9536098 11865001 ZDHHC24 zinc finger DHHC-type containing 24 gene DOID:10584 retinitis pigmentosa ISO RGD:1602172 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:15314642|PMID:15770229|PMID:16327777|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20301537|PMID:20498079|PMID:21052717|PMID:21517826|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22940089|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24746959|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:27788217|PMID:28041643|PMID:28492532|PMID:29264490|PMID:30614526|PMID:30718709|PMID:33532864 11865001 ZDHHC24 zinc finger DHHC-type containing 24 gene DOID:10584 retinitis pigmentosa ISO RGD:1602172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:15314642|PMID:15770229|PMID:16327777|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20301537|PMID:20498079|PMID:21052717|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24746959|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:27788217|PMID:28041643|PMID:28492532|PMID:29264490|PMID:29588463|PMID:30614526|PMID:30718709|PMID:33532864|PMID:34526762|PMID:9536098 11865001 ZDHHC24 zinc finger DHHC-type containing 24 gene DOID:1059 intellectual disability ISO RGD:1602172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11865001 ZDHHC24 zinc finger DHHC-type containing 24 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602172 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:10564830|PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:12920096|PMID:15314642|PMID:15666242|PMID:15770229|PMID:16199547|PMID:16327777|PMID:16877420|PMID:17003356|PMID:17065520|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:19858128|PMID:20177705|PMID:20301537|PMID:20472660|PMID:20498079|PMID:20876674|PMID:21052717|PMID:21209035|PMID:21258341|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22773737|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23432027|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24400638|PMID:24611592|PMID:24746959|PMID:25074776|PMID:25170860|PMID:25326635|PMID:25741868|PMID:25982971|PMID:25988237|PMID:26467025|PMID:26518167|PMID:26872967|PMID:27032803|PMID:27434533|PMID:27486776|PMID:27624628|PMID:27659767|PMID:27788217|PMID:27894351|PMID:28041643|PMID:28224992|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28991257|PMID:29099798|PMID:29264490|PMID:29588463|PMID:30076350|PMID:30259503|PMID:30614526|PMID:30718709|PMID:31130284|PMID:31836858|PMID:32165824|PMID:32349990|PMID:32451492|PMID:32552793|PMID:33532864|PMID:33594065|PMID:34526762|PMID:35886001|PMID:9536098 11865001 ZDHHC24 zinc finger DHHC-type containing 24 gene DOID:630 genetic disease ISO RGD:1602172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:15314642|PMID:15770229|PMID:16327777|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20177705|PMID:20301537|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24746959|PMID:25074776|PMID:25326635|PMID:25741868|PMID:25988237|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:27788217|PMID:28041643|PMID:28341476|PMID:28492532|PMID:29264490|PMID:29588463|PMID:30614526|PMID:30718709|PMID:32349990|PMID:33532864|PMID:33594065|PMID:34526762|PMID:9536098 11865001 ZDHHC24 zinc finger DHHC-type containing 24 gene DOID:8501 fundus dystrophy ISO RGD:1602172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:12920096|PMID:15314642|PMID:16199547|PMID:17065520|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20301537|PMID:20472660|PMID:20498079|PMID:21052717|PMID:21520335|PMID:21642631|PMID:22581970|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29264490|PMID:30614526|PMID:30718709|PMID:33532864 11865001 ZDHHC24 zinc finger DHHC-type containing 24 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1602172 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11865001 ZDHHC24 zinc finger DHHC-type containing 24 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1602172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11865008 IFIT2 interferon induced protein with tetratricopeptide repeats 2 gene DOID:0080600 COVID-19 ISO RGD:1317209 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11865008 IFIT2 interferon induced protein with tetratricopeptide repeats 2 gene DOID:14497 Wolman disease ISO RGD:1317209 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wolman disease PMID:28492532 11865008 IFIT2 interferon induced protein with tetratricopeptide repeats 2 gene DOID:630 genetic disease ISO RGD:1317209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865008 IFIT2 interferon induced protein with tetratricopeptide repeats 2 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1317209 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532 11865008 IFIT2 interferon induced protein with tetratricopeptide repeats 2 gene DOID:9001488 Human Influenza ISO RGD:1317209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11865014 YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon gene DOID:0060432 chromosome 17p13.3 duplication syndrome ISO RGD:1350802 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome PMID:21681106 11865014 YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon gene DOID:0060469 Miller-Dieker lissencephaly syndrome ISO RGD:62292 D RGD:9068941 20220825 MouseDO OMIM:247200 11865014 YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon gene DOID:0060480 left ventricular noncompaction ISO RGD:62292 D RGD:9068941 20220825 MouseDO OMIM:604169 11865014 YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon gene DOID:10487 Hirschsprung's disease ISO RGD:1350802 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 11865014 YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon gene DOID:9000965 Neoplasm Metastasis ISO RGD:1350802 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 11865028 MCOLN3 mucolipin TRP cation channel 3 gene DOID:630 genetic disease ISO RGD:1318177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865052 IFI35 interferon induced protein 35 gene DOID:630 genetic disease ISO RGD:1312056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865052 IFI35 interferon induced protein 35 gene DOID:9001488 Human Influenza ISO RGD:1312056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11865052 IFI35 interferon induced protein 35 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11865052 IFI35 interferon induced protein 35 gene DOID:9003281 Spontaneous Abortions ISO RGD:1312056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11865066 C7 complement C7 gene DOID:0060300 complement component 7 deficiency ISO RGD:1317399 D RGD:7240710 20180130 OMIM 11865066 C7 complement C7 gene DOID:0060300 complement component 7 deficiency ISO RGD:1317399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complement component 7 deficiency PMID:12869030|PMID:15554930|PMID:15831990|PMID:16199547|PMID:16771861|PMID:17407100|PMID:17576681|PMID:19931914|PMID:25741868|PMID:28492532|PMID:31440263|PMID:8871666|PMID:8892662|PMID:9218625|PMID:9536098|PMID:9856499 11865066 C7 complement C7 gene DOID:10976 membranous glomerulonephritis ISO RGD:620318 D RGD:9068941 20200609 RGD PMID:6241952|REF_RGD_ID:1599528 11865066 C7 complement C7 gene DOID:11832 visual epilepsy ISO RGD:620318 D RGD:9068941 20200609 RGD Protein:increased activity:brain PMID:12574424|REF_RGD_ID:1599523 11865066 C7 complement C7 gene DOID:5844 myocardial infarction ISO RGD:620318 D RGD:9068941 20200609 RGD Protein:increased activity:serum, myocardium PMID:15724448|REF_RGD_ID:1599522 11865066 C7 complement C7 gene DOID:630 genetic disease ISO RGD:1317399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11865066 C7 complement C7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11865066 C7 complement C7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11865094 XKR7 XK related 7 gene DOID:630 genetic disease ISO RGD:1605535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865101 ZDHHC20 zinc finger DHHC-type palmitoyltransferase 20 gene DOID:630 genetic disease ISO RGD:1606124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865125 FGF5 fibroblast growth factor 5 gene DOID:0060224 atrial fibrillation ISO RGD:1350517 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 11865125 FGF5 fibroblast growth factor 5 gene DOID:0111566 familial isolated trichomegaly ISO RGD:1350517 D RGD:7240710 20200701 OMIM 11865125 FGF5 fibroblast growth factor 5 gene DOID:0111566 familial isolated trichomegaly ISO RGD:1350517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichomegaly PMID:24989505 11865125 FGF5 fibroblast growth factor 5 gene DOID:630 genetic disease ISO RGD:1350517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865125 FGF5 fibroblast growth factor 5 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1350517 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11865139 FLACC1 flagellum associated containing coiled-coil domains 1 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1343894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11865139 FLACC1 flagellum associated containing coiled-coil domains 1 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1343894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11865139 FLACC1 flagellum associated containing coiled-coil domains 1 gene DOID:10327 anthracosis ISO RGD:1343894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394417 11865139 FLACC1 flagellum associated containing coiled-coil domains 1 gene DOID:630 genetic disease ISO RGD:1343894 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865139 FLACC1 flagellum associated containing coiled-coil domains 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1343894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 11865139 FLACC1 flagellum associated containing coiled-coil domains 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11865139 FLACC1 flagellum associated containing coiled-coil domains 1 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1343894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11865139 FLACC1 flagellum associated containing coiled-coil domains 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1343894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 11865167 MIDN midnolin gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1320070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 11865167 MIDN midnolin gene DOID:5339 cyclic hematopoiesis ISO RGD:1320070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11865167 MIDN midnolin gene DOID:630 genetic disease ISO RGD:1320070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865173 ZDHHC3 zinc finger DHHC-type palmitoyltransferase 3 gene DOID:630 genetic disease ISO RGD:1319160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865223 SELENOO selenoprotein O gene DOID:0060041 autism spectrum disorder ISO RGD:1605929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 11865223 SELENOO selenoprotein O gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1605929 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 11865223 SELENOO selenoprotein O gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1605929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11865223 SELENOO selenoprotein O gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1605929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 11865223 SELENOO selenoprotein O gene DOID:10581 metachromatic leukodystrophy ISO RGD:1605929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 11865223 SELENOO selenoprotein O gene DOID:1059 intellectual disability ISO RGD:1605929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11865223 SELENOO selenoprotein O gene DOID:630 genetic disease ISO RGD:1605929 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865236 ERMP1 endoplasmic reticulum metallopeptidase 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1348332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 11865236 ERMP1 endoplasmic reticulum metallopeptidase 1 gene DOID:630 genetic disease ISO RGD:1348332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865255 RTP2 receptor transporter protein 2 gene DOID:5419 schizophrenia ISO RGD:1606102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11865255 RTP2 receptor transporter protein 2 gene DOID:630 genetic disease ISO RGD:1606102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865261 ARHGEF17 Rho guanine nucleotide exchange factor 17 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1320476 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11865261 ARHGEF17 Rho guanine nucleotide exchange factor 17 gene DOID:1059 intellectual disability ISO RGD:1320476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11865261 ARHGEF17 Rho guanine nucleotide exchange factor 17 gene DOID:630 genetic disease ISO RGD:1320476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865292 DPYSL2 dihydropyrimidinase like 2 gene DOID:10652 Alzheimer's disease ISO RGD:737388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19374891 11865292 DPYSL2 dihydropyrimidinase like 2 gene DOID:1229 paranoid schizophrenia ISO RGD:737388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17105906 11865292 DPYSL2 dihydropyrimidinase like 2 gene DOID:1459 hypothyroidism ISO RGD:2517 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:thyroid gland PMID:11694350|REF_RGD_ID:2316251 11865292 DPYSL2 dihydropyrimidinase like 2 gene DOID:1824 status epilepticus treatment ISO RGD:2517 D RGD:9068941 20200609 RGD PMID:22761705|REF_RGD_ID:10045560 11865292 DPYSL2 dihydropyrimidinase like 2 gene DOID:2316 brain ischemia ISO RGD:2517 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:19524114|REF_RGD_ID:2316241 11865292 DPYSL2 dihydropyrimidinase like 2 gene DOID:630 genetic disease ISO RGD:737388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865292 DPYSL2 dihydropyrimidinase like 2 gene DOID:8398 osteoarthritis ISO RGD:737388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11865292 DPYSL2 dihydropyrimidinase like 2 gene DOID:9000998 Brain Injuries ISO RGD:2517 D RGD:9068941 20200609 RGD protein:increased degradation:cerebral cortex, hippocampus PMID:17402852|REF_RGD_ID:2303056 11865313 PLCB3 phospholipase C beta 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:731269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11865313 PLCB3 phospholipase C beta 3 gene DOID:0112303 spondylometaphyseal dysplasia with corneal dystrophy ISO RGD:731269 D RGD:7240710 20200812 OMIM 11865313 PLCB3 phospholipase C beta 3 gene DOID:0112303 spondylometaphyseal dysplasia with corneal dystrophy ISO RGD:731269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia with corneal dystrophy PMID:29122926 11865313 PLCB3 phospholipase C beta 3 gene DOID:1059 intellectual disability ISO RGD:731269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11865313 PLCB3 phospholipase C beta 3 gene DOID:12858 Huntington's disease ISO RGD:62285 D RGD:9068941 20200609 RGD PMID:22917585|REF_RGD_ID:13432582 11865313 PLCB3 phospholipase C beta 3 gene DOID:3070 high grade glioma ISO RGD:731269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11865313 PLCB3 phospholipase C beta 3 gene DOID:5844 myocardial infarction ISO RGD:61993 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:9521338|REF_RGD_ID:2314514 11865313 PLCB3 phospholipase C beta 3 gene DOID:630 genetic disease ISO RGD:731269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865313 PLCB3 phospholipase C beta 3 gene DOID:8549 chronic ulcer of skin ISO RGD:62285 D RGD:9068941 20200609 RGD PMID:10669417|REF_RGD_ID:737745 11865313 PLCB3 phospholipase C beta 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61993 D RGD:9068941 20200609 RGD protein:decreased expression:heart left ventricle PMID:15362504|REF_RGD_ID:2314509 11865352 DGKB diacylglycerol kinase beta gene DOID:0060224 atrial fibrillation ISO RGD:731815 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11865352 DGKB diacylglycerol kinase beta gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11865352 DGKB diacylglycerol kinase beta gene DOID:630 genetic disease ISO RGD:731815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865395 MRGPRE MAS related GPR family member E gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11865395 MRGPRE MAS related GPR family member E gene DOID:0080773 delta beta-thalassemia ISO RGD:1344531 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11865395 MRGPRE MAS related GPR family member E gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11865395 MRGPRE MAS related GPR family member E gene DOID:630 genetic disease ISO RGD:1344531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865406 GUF1 GTP binding elongation factor GUF1 gene DOID:0080427 developmental and epileptic encephalopathy 40 ISO RGD:1602319 D RGD:7240710 20190315 OMIM 11865406 GUF1 GTP binding elongation factor GUF1 gene DOID:0080427 developmental and epileptic encephalopathy 40 ISO RGD:1602319 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 40 PMID:25741868|PMID:26486472|PMID:28492532|PMID:30945278 11865406 GUF1 GTP binding elongation factor GUF1 gene DOID:2843 long QT syndrome ISO RGD:1602319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11865406 GUF1 GTP binding elongation factor GUF1 gene DOID:630 genetic disease ISO RGD:1602319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11865434 CHIT1 chitinase 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1313797 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11865434 CHIT1 chitinase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1313797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11865434 CHIT1 chitinase 1 gene DOID:1926 Gaucher's disease ISO RGD:1313797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17464953 11865434 CHIT1 chitinase 1 gene DOID:630 genetic disease ISO RGD:1313797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11865434 CHIT1 chitinase 1 gene DOID:9004182 CHITOTRIOSIDASE DEFICIENCY ISO RGD:1313797 D RGD:7240710 20190315 OMIM 11865434 CHIT1 chitinase 1 gene DOID:9004182 CHITOTRIOSIDASE DEFICIENCY ISO RGD:1313797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chitotriosidase deficiency PMID:17464953|PMID:17693102|PMID:23430552|PMID:23430794|PMID:25741868|PMID:27111557|PMID:27153562|PMID:28492532|PMID:9748235 11865434 CHIT1 chitinase 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1313797 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11865434 CHIT1 chitinase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11865458 SLC22A12 solute carrier family 22 member 12 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1323543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11865458 SLC22A12 solute carrier family 22 member 12 gene DOID:1059 intellectual disability ISO RGD:1323543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11865458 SLC22A12 solute carrier family 22 member 12 gene DOID:3021 acute kidney failure ISO RGD:1323543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14655203 11865458 SLC22A12 solute carrier family 22 member 12 gene DOID:3070 high grade glioma ISO RGD:1323543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11865458 SLC22A12 solute carrier family 22 member 12 gene DOID:630 genetic disease ISO RGD:1323543 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21148271|PMID:25741868|PMID:28492532|PMID:30920107 11865458 SLC22A12 solute carrier family 22 member 12 gene DOID:9005835 Congenital Abnormalities ISO RGD:1323543 D RGD:9068941 20200609 RGD Mutatons cause hypouricemia, a deficiency of uric acid in the blood. PMID:12024214|PMID:15634722|REF_RGD_ID:1599244|REF_RGD_ID:1599245 11865458 SLC22A12 solute carrier family 22 member 12 gene DOID:9007605 Renal Hypouricemia ISO RGD:1323543 D RGD:7240710 20180130 OMIM 11865458 SLC22A12 solute carrier family 22 member 12 gene DOID:9007605 Renal Hypouricemia ISO RGD:1323543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dalmatian hypouricemia PMID:12024214|PMID:14655203|PMID:14694169|PMID:15054642|PMID:15327384|PMID:15634722|PMID:15741204|PMID:15912381|PMID:16199547|PMID:16385546|PMID:16703794|PMID:17103332|PMID:17362586|PMID:18492088|PMID:18760270|PMID:19019168|PMID:19092327|PMID:21148271|PMID:21211204|PMID:21366895|PMID:21614936|PMID:22045201|PMID:22194875|PMID:22257548|PMID:23043931|PMID:23386035|PMID:23525542|PMID:23652934|PMID:24033266|PMID:24827988|PMID:25264011|PMID:25658588|PMID:25741868|PMID:26500098|PMID:26603249|PMID:28492532|PMID:29486147|PMID:29659532|PMID:30097038|PMID:30315176|PMID:31591475|PMID:32271837|PMID:33821957 11865458 SLC22A12 solute carrier family 22 member 12 gene DOID:9007733 Familial Renal Hypouricemia due to Tubular Hypersecretion ISO RGD:1323543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial renal hypouricemia PMID:14694169|PMID:15327384|PMID:15741204|PMID:15912381|PMID:16703794|PMID:17362586|PMID:18492088|PMID:19019168|PMID:22045201|PMID:22194875|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29659532|PMID:30097038|PMID:33821957 11865458 SLC22A12 solute carrier family 22 member 12 gene DOID:9351 diabetes mellitus ISO RGD:621628 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:28679589|REF_RGD_ID:13439745 11865477 KIAA0408 KIAA0408 ortholog gene DOID:630 genetic disease ISO RGD:1345855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865499 CCR7 C-C motif chemokine receptor 7 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1347245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 11865499 CCR7 C-C motif chemokine receptor 7 gene DOID:0080600 COVID-19 ISO RGD:1347245 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 11865499 CCR7 C-C motif chemokine receptor 7 gene DOID:12894 Sjogren's syndrome ISO RGD:1553451 D RGD:9068941 20220825 MouseDO OMIM:270150 11865499 CCR7 C-C motif chemokine receptor 7 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1347245 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:12626344|REF_RGD_ID:5130912 11865499 CCR7 C-C motif chemokine receptor 7 gene DOID:13564 aspergillosis ISO RGD:1553451 D RGD:9068941 20200609 RGD associated with Neutropenia PMID:19783686|REF_RGD_ID:5130908 11865499 CCR7 C-C motif chemokine receptor 7 gene DOID:1824 status epilepticus ISO RGD:1347245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17181556 11865499 CCR7 C-C motif chemokine receptor 7 gene DOID:2841 asthma ISO RGD:1553451 D RGD:9068941 20200609 RGD protein:increased expression:lung, dendritic cell (mouse) PMID:19917684|REF_RGD_ID:8549811 11865499 CCR7 C-C motif chemokine receptor 7 gene DOID:552 pneumonia ISO RGD:1347245 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:16394278|REF_RGD_ID:5130919 11865499 CCR7 C-C motif chemokine receptor 7 gene DOID:630 genetic disease ISO RGD:1347245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865499 CCR7 C-C motif chemokine receptor 7 gene DOID:874 bacterial pneumonia ISO RGD:1553451 D RGD:9068941 20200609 RGD PMID:20176793|REF_RGD_ID:5130918 11865499 CCR7 C-C motif chemokine receptor 7 gene DOID:8778 Crohn's disease ISO RGD:1347245 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 11865509 DCUN1D1 defective in cullin neddylation 1 domain containing 1 gene DOID:0111546 Currarino syndrome ISO RGD:1602219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11865509 DCUN1D1 defective in cullin neddylation 1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1602219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865528 MFNG MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1349900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11865528 MFNG MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1349900 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11865528 MFNG MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1349900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11865528 MFNG MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11865528 MFNG MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:630 genetic disease ISO RGD:1349900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865565 FDXACB1 ferredoxin-fold anticodon binding domain containing 1 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:2301592 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 11865565 FDXACB1 ferredoxin-fold anticodon binding domain containing 1 gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:2301592 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:25966638|PMID:28492532 11865565 FDXACB1 ferredoxin-fold anticodon binding domain containing 1 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:2301592 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 11865565 FDXACB1 ferredoxin-fold anticodon binding domain containing 1 gene DOID:1059 intellectual disability ISO RGD:2301592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11865565 FDXACB1 ferredoxin-fold anticodon binding domain containing 1 gene DOID:12704 ataxia telangiectasia ISO RGD:2301592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11865565 FDXACB1 ferredoxin-fold anticodon binding domain containing 1 gene DOID:630 genetic disease ISO RGD:2301592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865565 FDXACB1 ferredoxin-fold anticodon binding domain containing 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:2301592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11865565 FDXACB1 ferredoxin-fold anticodon binding domain containing 1 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:2301592 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 11865606 REL REL proto-oncogene, NF-kB subunit gene DOID:1612 breast cancer ISO RGD:1322580 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:tumor:increased protein levels and nuclear translocation vs adjacent normal breast tissue PMID:10713699|REF_RGD_ID:2300275 11865606 REL REL proto-oncogene, NF-kB subunit gene DOID:2671 transitional cell carcinoma ISO RGD:1322580 D RGD:9068941 20200609 RGD Urinary bladder TCC; protein, mRNA:altered localization, increased expression:tumor:increased expression (p<0.01) and increased nuclear localization (p<0.01) vs adjacent non-cancerous bladder mucosa PMID:12452071|REF_RGD_ID:2300270 11865606 REL REL proto-oncogene, NF-kB subunit gene DOID:630 genetic disease ISO RGD:1322580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17072339|PMID:28492532 11865606 REL REL proto-oncogene, NF-kB subunit gene DOID:7148 rheumatoid arthritis ISO RGD:1322580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19503088|PMID:20453842|PMID:23143596 11865606 REL REL proto-oncogene, NF-kB subunit gene DOID:8567 Hodgkin's lymphoma ISO RGD:1322580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21037568 11865606 REL REL proto-oncogene, NF-kB subunit gene DOID:8893 psoriasis ISO RGD:1322580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953190 11865606 REL REL proto-oncogene, NF-kB subunit gene DOID:8929 atrophic gastritis ISO RGD:1322581 D RGD:9068941 20201218 RGD associated with Helicobacter Infections PMID:23975431|REF_RGD_ID:40902973 11865606 REL REL proto-oncogene, NF-kB subunit gene DOID:9000365 Immunodeficiency 92 ISO RGD:1322580 D RGD:7240710 20211222 OMIM 11865606 REL REL proto-oncogene, NF-kB subunit gene DOID:9000365 Immunodeficiency 92 ISO RGD:1322580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 92 PMID:31103457|PMID:34623332 11865606 REL REL proto-oncogene, NF-kB subunit gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1322581 D RGD:9068941 20200609 RGD DNA:transgene:mammary gland:mouse c-Rel cDNA driven by the MMTV-LTR promoter PMID:12897145|REF_RGD_ID:2300264 11865606 REL REL proto-oncogene, NF-kB subunit gene DOID:9000495 Tremor ISO RGD:1322580 D RGD:9068941 20210212 CTD CTD Direct Evidence: therapeutic PMID:31481676 11865606 REL REL proto-oncogene, NF-kB subunit gene DOID:9000831 Hypokinesia ISO RGD:1322580 D RGD:9068941 20210212 CTD CTD Direct Evidence: therapeutic PMID:31481676 11865606 REL REL proto-oncogene, NF-kB subunit gene DOID:9004649 Heat Stroke ISO RGD:1322580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 11865606 REL REL proto-oncogene, NF-kB subunit gene DOID:9008023 Memory Disorders ISO RGD:1322580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20477932 11865606 REL REL proto-oncogene, NF-kB subunit gene DOID:9256 colorectal cancer susceptibility ISO RGD:1322581 D RGD:9068941 20201218 RGD associated with Experimental Colitis PMID:25727407|REF_RGD_ID:40902978 11865627 CCDC167 coiled-coil domain containing 167 gene DOID:630 genetic disease ISO RGD:1352845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865646 SLC4A9 solute carrier family 4 member 9 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:730837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11865646 SLC4A9 solute carrier family 4 member 9 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:730837 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11865646 SLC4A9 solute carrier family 4 member 9 gene DOID:630 genetic disease ISO RGD:730837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865646 SLC4A9 solute carrier family 4 member 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11865646 SLC4A9 solute carrier family 4 member 9 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:730837 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11865672 C12H12orf50 chromosome 12 C12orf50 homolog gene DOID:0050777 Joubert syndrome ISO RGD:1605567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:19764032|PMID:23954617|PMID:27821535|PMID:28492532 11865672 C12H12orf50 chromosome 12 C12orf50 homolog gene DOID:630 genetic disease ISO RGD:1605567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865698 ERICH2 glutamate rich 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:6903373 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11865707 OVCH1 ovochymase 1 gene DOID:630 genetic disease ISO RGD:1343843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865736 CCDC8 coiled-coil domain containing 8 gene DOID:630 genetic disease ISO RGD:1351060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11865736 CCDC8 coiled-coil domain containing 8 gene DOID:9002003 Three M Syndrome 3 ISO RGD:1351060 D RGD:7240710 20180130 OMIM 11865736 CCDC8 coiled-coil domain containing 8 gene DOID:9002003 Three M Syndrome 3 ISO RGD:1351060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3M syndrome 3 PMID:21737058|PMID:25741868|PMID:28492532|PMID:28675896 11865742 AFF2 ALF transcription elongation factor 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11865742 AFF2 ALF transcription elongation factor 2 gene DOID:0060811 syndromic X-linked intellectual disability Turner type ISO RGD:1343236 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked syndromic, Turner type PMID:25741868 11865742 AFF2 ALF transcription elongation factor 2 gene DOID:0080984 X-linked intellectual developmental disorder 109 ISO RGD:1343236 D RGD:7240710 20210421 OMIM 11865742 AFF2 ALF transcription elongation factor 2 gene DOID:0080984 X-linked intellectual developmental disorder 109 ISO RGD:1343236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 109 PMID:18414213|PMID:21739600|PMID:22773736|PMID:23562910|PMID:25741868|PMID:28492532 11865742 AFF2 ALF transcription elongation factor 2 gene DOID:1059 intellectual disability ISO RGD:1343236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25741868|PMID:28492532 11865742 AFF2 ALF transcription elongation factor 2 gene DOID:12849 autistic disorder ISO RGD:1343236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11865742 AFF2 ALF transcription elongation factor 2 gene DOID:14261 fragile X syndrome ISO RGD:1343236 D RGD:9068941 20210430 CTD CTD Direct Evidence: marker/mechanism 11865742 AFF2 ALF transcription elongation factor 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1343236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11865742 AFF2 ALF transcription elongation factor 2 gene DOID:630 genetic disease ISO RGD:1343236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11865742 AFF2 ALF transcription elongation factor 2 gene DOID:9000991 SULEIMAN-EL-HATTAB SYNDROME ISO RGD:1343236 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Suleiman-El-Hattab syndrome PMID:25741868 11865742 AFF2 ALF transcription elongation factor 2 gene DOID:9007661 Dwarfism ISO RGD:1343236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11865778 SLC35D3 solute carrier family 35 member D3 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1319766 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 11865778 SLC35D3 solute carrier family 35 member D3 gene DOID:0111955 immunodeficiency 27A ISO RGD:1319766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 11865778 SLC35D3 solute carrier family 35 member D3 gene DOID:630 genetic disease ISO RGD:1319766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865778 SLC35D3 solute carrier family 35 member D3 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1319766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection PMID:26642243|PMID:28492532|PMID:29572183|PMID:8960473|PMID:9806040 11865784 RING1 ring finger protein 1 gene DOID:0050553 JMP syndrome ISO RGD:1353088 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11865784 RING1 ring finger protein 1 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1353088 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 11865784 RING1 ring finger protein 1 gene DOID:630 genetic disease ISO RGD:1353088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865795 PRRC1 proline rich coiled-coil 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601934 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11865795 PRRC1 proline rich coiled-coil 1 gene DOID:630 genetic disease ISO RGD:1601934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865795 PRRC1 proline rich coiled-coil 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11865795 PRRC1 proline rich coiled-coil 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601934 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11865823 LRRC8D leucine rich repeat containing 8 VRAC subunit D gene DOID:630 genetic disease ISO RGD:1320026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865837 FAM20A FAM20A golgi associated secretory pathway pseudokinase gene DOID:0050471 Carney complex ISO RGD:1314939 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Carney complex | ClinVar Annotator: match by term: Carney complex, type 1 PMID:11115848|PMID:19293268|PMID:24170103|PMID:28492532 11865837 FAM20A FAM20A golgi associated secretory pathway pseudokinase gene DOID:0110066 amelogenesis imperfecta type 1G ISO RGD:1314939 D RGD:7240710 20180130 OMIM 11865837 FAM20A FAM20A golgi associated secretory pathway pseudokinase gene DOID:0110066 amelogenesis imperfecta type 1G ISO RGD:1314939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G PMID:18597613|PMID:21549343|PMID:21990045|PMID:23434854|PMID:23468644|PMID:24196488|PMID:25741868|PMID:28086997|PMID:28492532|PMID:32246227 11865837 FAM20A FAM20A golgi associated secretory pathway pseudokinase gene DOID:14669 acrodysostosis ISO RGD:1314939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acrodysostosis PMID:28492532 11865837 FAM20A FAM20A golgi associated secretory pathway pseudokinase gene DOID:630 genetic disease ISO RGD:1314939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11865837 FAM20A FAM20A golgi associated secretory pathway pseudokinase gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1314939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11865837 FAM20A FAM20A golgi associated secretory pathway pseudokinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314939 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 11865852 CUL4B cullin 4B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11865852 CUL4B cullin 4B gene DOID:0060800 syndromic X-linked intellectual disability 5 ISO RGD:1342683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pettigrew syndrome PMID:25741868 11865852 CUL4B cullin 4B gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1342683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 11865852 CUL4B cullin 4B gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1342683 D RGD:7240710 20220427 OMIM 11865852 CUL4B cullin 4B gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1342683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CABEZAS SYNDROME | ClinVar Annotator: match by term: CUL4B-Related Disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 | ClinVar Annotator: match by term: Mental retardation with short stature, hypogonadism and abnormal gait, X-linked PMID:10978355|PMID:17236139|PMID:17273978|PMID:18414213|PMID:25385192|PMID:25741868|PMID:26467025|PMID:28330790|PMID:28492532|PMID:28817236|PMID:8135271 11865852 CUL4B cullin 4B gene DOID:1059 intellectual disability ISO RGD:1342683 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:17236139|PMID:17273978|PMID:25741868|PMID:28492532|PMID:8135271 11865852 CUL4B cullin 4B gene DOID:12849 autistic disorder ISO RGD:1342683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11865852 CUL4B cullin 4B gene DOID:1826 epilepsy ISO RGD:1342683 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:17236139|PMID:17273978|PMID:25741868|PMID:8135271 11865852 CUL4B cullin 4B gene DOID:630 genetic disease ISO RGD:1342683 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10978355|PMID:17236139|PMID:17273978|PMID:19818632|PMID:20002452|PMID:20655035|PMID:21554755|PMID:21816345|PMID:24898194|PMID:25385192|PMID:25741868|PMID:26467025|PMID:26795593|PMID:28492532 11865852 CUL4B cullin 4B gene DOID:9007661 Dwarfism ISO RGD:1342683 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Short stature PMID:17236139|PMID:17273978|PMID:25741868|PMID:8135271 11865852 CUL4B cullin 4B gene DOID:9008086 Developmental Disabilities ISO RGD:1342683 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:17236139|PMID:17273978|PMID:25741868|PMID:8135271 11865890 BCAN brevican gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:736888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11865890 BCAN brevican gene DOID:0111940 immunodeficiency 42 ISO RGD:736888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11865890 BCAN brevican gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:736888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11865890 BCAN brevican gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:736888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11865890 BCAN brevican gene DOID:10584 retinitis pigmentosa severity ISO RGD:736888 D RGD:9068941 20200609 RGD PMID:29150673|REF_RGD_ID:14392802 11865890 BCAN brevican gene DOID:10652 Alzheimer's disease ISO RGD:10227 D RGD:9068941 20200609 RGD protein:altered modification:brain PMID:20180882|REF_RGD_ID:14392785 11865890 BCAN brevican gene DOID:1540 parathyroid carcinoma ISO RGD:736888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11865890 BCAN brevican gene DOID:3070 high grade glioma ISO RGD:2194 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:12799382|REF_RGD_ID:14392782 11865890 BCAN brevican gene DOID:3070 high grade glioma ISO RGD:736888 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:16061654|REF_RGD_ID:14392797 11865890 BCAN brevican gene DOID:3070 high grade glioma severity ISO RGD:2194 D RGD:9068941 20200609 RGD PMID:11585735|REF_RGD_ID:14392783 11865890 BCAN brevican gene DOID:3070 high grade glioma severity ISO RGD:736888 D RGD:9068941 20200609 RGD PMID:23253190|REF_RGD_ID:14392804 11865890 BCAN brevican gene DOID:3525 middle cerebral artery infarction ISO RGD:2194 D RGD:9068941 20200609 RGD PMID:15869933|REF_RGD_ID:9590118 11865890 BCAN brevican gene DOID:5812 MHC class II deficiency ISO RGD:736888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11865890 BCAN brevican gene DOID:630 genetic disease ISO RGD:736888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865890 BCAN brevican gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2194 D RGD:9068941 20200609 RGD PMID:15016081|REF_RGD_ID:9589823 11865890 BCAN brevican gene DOID:9000115 Posthemorrhagic Hydrocephalus treatment ISO RGD:736888 D RGD:9068941 20200609 RGD PMID:22186713|REF_RGD_ID:6483013 11865890 BCAN brevican gene DOID:9002189 High Myopia ISO RGD:736888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11865890 BCAN brevican gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2194 D RGD:9068941 20200609 RGD PMID:15817274|REF_RGD_ID:14392799 11865890 BCAN brevican gene DOID:9008941 Muscle Hypertonia ISO RGD:12122555 D RGD:9068941 20230128 OMIA Episodic falling PMID:15971896|PMID:21821125|PMID:22253609|PMID:25441627|PMID:30650096|PMID:36086931|PMID:3680644|PMID:3716135|PMID:6868317 11865890 BCAN brevican gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11865916 PON1 paraoxonase 1 gene DOID:0014667 disease of metabolism ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28396702 11865916 PON1 paraoxonase 1 gene DOID:0050731 vitamin B12 deficiency ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:22568797|REF_RGD_ID:11553830 11865916 PON1 paraoxonase 1 gene DOID:0060058 lymphoma ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22800774 11865916 PON1 paraoxonase 1 gene DOID:0060060 non-Hodgkin lymphoma susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q192R (human) PMID:12139735|REF_RGD_ID:11553822 11865916 PON1 paraoxonase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17204329 11865916 PON1 paraoxonase 1 gene DOID:0060669 cerebral cavernous malformation susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (human) PMID:26122242|REF_RGD_ID:11552573 11865916 PON1 paraoxonase 1 gene DOID:0080001 bone disease ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Multiple Myeloma;protein:increased expression:serum (human) PMID:25322877|REF_RGD_ID:11552587 11865916 PON1 paraoxonase 1 gene DOID:0080016 spina bifida ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21031563 11865916 PON1 paraoxonase 1 gene DOID:0080771 beta-thalassemia major ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (human) PMID:17617032|REF_RGD_ID:11553831 11865916 PON1 paraoxonase 1 gene DOID:10126 keratoconus ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (human) PMID:23441349|REF_RGD_ID:8547774 11865916 PON1 paraoxonase 1 gene DOID:10126 keratoconus severity ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:24148525|REF_RGD_ID:8547559 11865916 PON1 paraoxonase 1 gene DOID:10283 prostate cancer ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:increased activity:serum (human) PMID:23768700|REF_RGD_ID:8547662 11865916 PON1 paraoxonase 1 gene DOID:1040 chronic lymphocytic leukemia susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (human) PMID:26254371|REF_RGD_ID:11073982 11865916 PON1 paraoxonase 1 gene DOID:10603 glucose intolerance ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:SNP:CDS:amino acid L55M, LL genotype PMID:11889198|REF_RGD_ID:1642628 11865916 PON1 paraoxonase 1 gene DOID:10608 celiac disease ISO RGD:1349272 D RGD:9068941 20200609 RGD mRNA:decreased expression:duodenum PMID:17664137|REF_RGD_ID:5509924 11865916 PON1 paraoxonase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:polymorphisms:multiple SNPs PMID:16319130|REF_RGD_ID:5509926 11865916 PON1 paraoxonase 1 gene DOID:1067 open-angle glaucoma ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (human) PMID:16411107|REF_RGD_ID:8547552 11865916 PON1 paraoxonase 1 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:snp:cds:p.Q192R (rs662) (human) PMID:22553514|REF_RGD_ID:8547563 11865916 PON1 paraoxonase 1 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:19155603|REF_RGD_ID:8547556 11865916 PON1 paraoxonase 1 gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (human) PMID:20042177|REF_RGD_ID:8547668 11865916 PON1 paraoxonase 1 gene DOID:10923 sickle cell anemia ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity: serum (human) PMID:24508012|REF_RGD_ID:11553835 11865916 PON1 paraoxonase 1 gene DOID:11054 urinary bladder cancer ISO RGD:1349272 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 11865916 PON1 paraoxonase 1 gene DOID:11123 Henoch-Schoenlein purpura susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (human) PMID:19967651|REF_RGD_ID:11552576 11865916 PON1 paraoxonase 1 gene DOID:114 heart disease ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28396702 11865916 PON1 paraoxonase 1 gene DOID:11713 diabetic angiopathy ISO RGD:1349272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 5 PMID:11335891|PMID:11788650|PMID:11889198|PMID:11918623|PMID:9011577|PMID:9661650 11865916 PON1 paraoxonase 1 gene DOID:11758 iron deficiency anemia ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:16684543|REF_RGD_ID:11552586 11865916 PON1 paraoxonase 1 gene DOID:11758 iron deficiency anemia treatment ISO RGD:1349272 D RGD:9068941 20200609 RGD PMID:26926576|REF_RGD_ID:11553834 11865916 PON1 paraoxonase 1 gene DOID:11840 coronary artery vasospasm ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11810302 11865916 PON1 paraoxonase 1 gene DOID:12241 beta thalassemia ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:26608512|REF_RGD_ID:11552583 11865916 PON1 paraoxonase 1 gene DOID:12336 male infertility ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21561808|PMID:22206979 11865916 PON1 paraoxonase 1 gene DOID:12849 autistic disorder ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16027737|PMID:16297937|PMID:22490277 11865916 PON1 paraoxonase 1 gene DOID:1287 cardiovascular system disease ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15169886|PMID:19152805 11865916 PON1 paraoxonase 1 gene DOID:12894 Sjogren's syndrome ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:20497955|REF_RGD_ID:8547550 11865916 PON1 paraoxonase 1 gene DOID:1307 dementia susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:snp, missense mutation, haplotype:promoter, cds:g.-107T>C, p.Q129R (human) PMID:15016430|REF_RGD_ID:1358562 11865916 PON1 paraoxonase 1 gene DOID:13241 Behcet's disease ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:15377545|REF_RGD_ID:8547573 11865916 PON1 paraoxonase 1 gene DOID:13548 secondary Parkinson disease ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26457621 11865916 PON1 paraoxonase 1 gene DOID:13580 cholestasis ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 11865916 PON1 paraoxonase 1 gene DOID:13641 exfoliation syndrome ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:19628957|REF_RGD_ID:8547685 11865916 PON1 paraoxonase 1 gene DOID:14400 capillary leak syndrome susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:snp:intron:c.75-1136G>A (rs3917490) (human) PMID:24808988|REF_RGD_ID:11553829 11865916 PON1 paraoxonase 1 gene DOID:1596 depressive disorder ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19272368 11865916 PON1 paraoxonase 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.Q192R (human) PMID:17428620|REF_RGD_ID:8661246 11865916 PON1 paraoxonase 1 gene DOID:1727 retinal vein occlusion ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:18084236|REF_RGD_ID:8547555 11865916 PON1 paraoxonase 1 gene DOID:1727 retinal vein occlusion susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L55M (human) PMID:23441121|REF_RGD_ID:8547547 11865916 PON1 paraoxonase 1 gene DOID:1936 atherosclerosis ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16216721|PMID:16229851|PMID:16331452|PMID:19371607|PMID:21629682|PMID:26241956 11865916 PON1 paraoxonase 1 gene DOID:1936 atherosclerosis ISO RGD:1349272 D RGD:9068941 20200609 RGD mRNA:altered expression::human transgene expression in ApoE-KO mice was protective PMID:20182519|REF_RGD_ID:5509927 11865916 PON1 paraoxonase 1 gene DOID:1936 atherosclerosis susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Beta-Thalassemia;protein:decreased activity:serum (human) PMID:21427447|REF_RGD_ID:11552582 11865916 PON1 paraoxonase 1 gene DOID:1936 atherosclerosis treatment ISO RGD:733240 D RGD:9068941 20200609 RGD PMID:16043712|PMID:20660283|REF_RGD_ID:8547562|REF_RGD_ID:8547574 11865916 PON1 paraoxonase 1 gene DOID:2349 arteriosclerosis ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X PMID:16627808|REF_RGD_ID:2313273 11865916 PON1 paraoxonase 1 gene DOID:2355 anemia severity ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Gastrointestinal Neoplasms;protein:decreased activity:serum (human) PMID:18423402|REF_RGD_ID:11552571 11865916 PON1 paraoxonase 1 gene DOID:2355 anemia treatment ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic PMID:17324148|REF_RGD_ID:11552579 11865916 PON1 paraoxonase 1 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16175651 11865916 PON1 paraoxonase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:16380766|REF_RGD_ID:8547571 11865916 PON1 paraoxonase 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1349272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 11865916 PON1 paraoxonase 1 gene DOID:3388 periodontal disease ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19003935 11865916 PON1 paraoxonase 1 gene DOID:3393 coronary artery disease ISO RGD:1349272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery spasm 2, susceptibility to PMID:11238489|PMID:11810302|PMID:11888590|PMID:12082503|PMID:15241482|PMID:21170047|PMID:7916578|PMID:8098250|PMID:8675673|PMID:8770857|PMID:9215303|PMID:9385372|PMID:9443884 11865916 PON1 paraoxonase 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q192R (human) PMID:10729395|REF_RGD_ID:1580196 11865916 PON1 paraoxonase 1 gene DOID:3526 cerebral infarction susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q192R (human) PMID:10729395|REF_RGD_ID:1580196 11865916 PON1 paraoxonase 1 gene DOID:3602 toxic encephalopathy ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21329748 11865916 PON1 paraoxonase 1 gene DOID:4195 hyperglycemia treatment ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:23267397|REF_RGD_ID:8547670 11865916 PON1 paraoxonase 1 gene DOID:4448 macular degeneration ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:23432778|REF_RGD_ID:8547561 11865916 PON1 paraoxonase 1 gene DOID:4448 macular degeneration no_association ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (human) PMID:15488805|REF_RGD_ID:8547582 11865916 PON1 paraoxonase 1 gene DOID:4448 macular degeneration no_association ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (rs662, rs854560) (human) PMID:15774926|REF_RGD_ID:8547659 11865916 PON1 paraoxonase 1 gene DOID:4448 macular degeneration susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (human) PMID:23538572|REF_RGD_ID:8547549 11865916 PON1 paraoxonase 1 gene DOID:4448 macular degeneration susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:snps:promoter, 5' utr:multiple (human) PMID:22956172|REF_RGD_ID:8547551 11865916 PON1 paraoxonase 1 gene DOID:4481 allergic rhinitis severity ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (human) PMID:23406590|REF_RGD_ID:8547583 11865916 PON1 paraoxonase 1 gene DOID:4491 persian gulf syndrome ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10373407 11865916 PON1 paraoxonase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11865916 PON1 paraoxonase 1 gene DOID:576 proteinuria ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:decreased activity:serum (human) PMID:9591753|REF_RGD_ID:8547663 11865916 PON1 paraoxonase 1 gene DOID:5844 myocardial infarction ISO RGD:1349272 D RGD:9068941 20200609 RGD PMID:10610741|PMID:10978258|REF_RGD_ID:1580198|REF_RGD_ID:1580202 11865916 PON1 paraoxonase 1 gene DOID:6000 congestive heart failure ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 11865916 PON1 paraoxonase 1 gene DOID:630 genetic disease ISO RGD:1349272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865916 PON1 paraoxonase 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1349272 D RGD:9068941 20220901 RGD mRNA:decreased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 11865916 PON1 paraoxonase 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16055108 11865916 PON1 paraoxonase 1 gene DOID:7998 hyperthyroidism ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14678291 11865916 PON1 paraoxonase 1 gene DOID:83 cataract ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:decreased activity:eye, lens (human) PMID:19439227|REF_RGD_ID:8547553 11865916 PON1 paraoxonase 1 gene DOID:8577 ulcerative colitis ISO RGD:1349272 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon PMID:17664137|REF_RGD_ID:5509924 11865916 PON1 paraoxonase 1 gene DOID:8778 Crohn's disease ISO RGD:1349272 D RGD:9068941 20200609 RGD mRNA:decreased expression:terminal ileum PMID:17664137|REF_RGD_ID:5509924 11865916 PON1 paraoxonase 1 gene DOID:8947 diabetic retinopathy ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20012460|PMID:9661650 11865916 PON1 paraoxonase 1 gene DOID:8947 diabetic retinopathy ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:decreased activity:serum (human) PMID:20012460|REF_RGD_ID:8547537 11865916 PON1 paraoxonase 1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:g.-907C>G (human) PMID:16949520|REF_RGD_ID:2313272 11865916 PON1 paraoxonase 1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.Q192R (human) PMID:15270786|REF_RGD_ID:8547548 11865916 PON1 paraoxonase 1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;DNA:missense mutation:cds:p.L55M (rs854560) (human) PMID:24100645|REF_RGD_ID:8547572 11865916 PON1 paraoxonase 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:620062 D RGD:9068941 20200609 RGD PMID:12897486|REF_RGD_ID:8547682 11865916 PON1 paraoxonase 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1349272 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 11865916 PON1 paraoxonase 1 gene DOID:9000528 Coronary Disease ISO RGD:1349272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease, susceptibility to PMID:11238489|PMID:11335891|PMID:11788650|PMID:11810302|PMID:11888590|PMID:11889198|PMID:11918623|PMID:12082503|PMID:15241482|PMID:21170047|PMID:7916578|PMID:8098250|PMID:8675673|PMID:8770857|PMID:9011577|PMID:9215303|PMID:9385372|PMID:9443884|PMID:9661650 11865916 PON1 paraoxonase 1 gene DOID:9000528 Coronary Disease no_association ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q192R (human) PMID:15214960|REF_RGD_ID:8547675 11865916 PON1 paraoxonase 1 gene DOID:9000528 Coronary Disease severity ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19005291|REF_RGD_ID:2313267 11865916 PON1 paraoxonase 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16229851 11865916 PON1 paraoxonase 1 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25463530|PMID:28396702 11865916 PON1 paraoxonase 1 gene DOID:9001472 Nasal Polyps ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:23238704|REF_RGD_ID:8547666 11865916 PON1 paraoxonase 1 gene DOID:9001542 Albuminuria ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, cds (human) PMID:16949520|REF_RGD_ID:2313272 11865916 PON1 paraoxonase 1 gene DOID:9001581 Constipation ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19022366 11865916 PON1 paraoxonase 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26241956 11865916 PON1 paraoxonase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26884296 11865916 PON1 paraoxonase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:19207863|REF_RGD_ID:2313266 11865916 PON1 paraoxonase 1 gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;DNA:missense mutations:cds:p.L55M, p.Q192R (rs854560, rs662) (human) PMID:24100645|REF_RGD_ID:8547572 11865916 PON1 paraoxonase 1 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.Q192R (human) PMID:15270786|REF_RGD_ID:8547548 11865916 PON1 paraoxonase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12783936|PMID:15538743|PMID:21716162 11865916 PON1 paraoxonase 1 gene DOID:9002564 Arteritis ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19022366 11865916 PON1 paraoxonase 1 gene DOID:9002661 Diabetes Complications ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19003935 11865916 PON1 paraoxonase 1 gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002382 11865916 PON1 paraoxonase 1 gene DOID:9003996 Birth Weight ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17237730 11865916 PON1 paraoxonase 1 gene DOID:9004968 Yin Deficiency ISO RGD:620062 D RGD:9068941 20220908 RGD protein:decreased expression:serum PMID:27843478|REF_RGD_ID:153350089 11865916 PON1 paraoxonase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16323636 11865916 PON1 paraoxonase 1 gene DOID:9005292 Organophosphate Poisoning ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11022865|PMID:20581384|PMID:20981111|PMID:23123254|PMID:24326413|PMID:26340881|PMID:28070599 11865916 PON1 paraoxonase 1 gene DOID:9005463 Occupational Diseases ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22800774 11865916 PON1 paraoxonase 1 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16030523|PMID:16238680 11865916 PON1 paraoxonase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1349272 D RGD:9068941 20200609 RGD PMID:18358245|REF_RGD_ID:2313268 11865916 PON1 paraoxonase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733240 D RGD:9068941 20200609 RGD PMID:18358245|REF_RGD_ID:2313268 11865916 PON1 paraoxonase 1 gene DOID:9006532 Hematologic Neoplasms ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22800774 11865916 PON1 paraoxonase 1 gene DOID:9006532 Hematologic Neoplasms susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q192R (human) PMID:22800774|REF_RGD_ID:11552572 11865916 PON1 paraoxonase 1 gene DOID:9006538 Agricultural Workers' Diseases ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15982977|PMID:18430447 11865916 PON1 paraoxonase 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21573798 11865916 PON1 paraoxonase 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum PMID:14602783|REF_RGD_ID:1642618 11865916 PON1 paraoxonase 1 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26839999 11865916 PON1 paraoxonase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 11865916 PON1 paraoxonase 1 gene DOID:9007502 Brain Neoplasms ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002382 11865916 PON1 paraoxonase 1 gene DOID:9007571 Hyperlipoproteinemias ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15324535 11865916 PON1 paraoxonase 1 gene DOID:9007571 Hyperlipoproteinemias ISO RGD:620062 D RGD:9068941 20200609 RGD PMID:11015468|REF_RGD_ID:731237 11865916 PON1 paraoxonase 1 gene DOID:9007571 Hyperlipoproteinemias treatment ISO RGD:1349272 D RGD:9068941 20200609 RGD PMID:15324535|REF_RGD_ID:8547684 11865916 PON1 paraoxonase 1 gene DOID:9007692 Insulin Resistance ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:SNP:CDS:p.L55M (human), LL genotype (P < 0.001) PMID:11788650|REF_RGD_ID:1642617 11865916 PON1 paraoxonase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1349272 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31004929 11865916 PON1 paraoxonase 1 gene DOID:9279 hyperhomocysteinemia ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17292331|PMID:19028542 11865916 PON1 paraoxonase 1 gene DOID:9351 diabetes mellitus ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16229851|PMID:19022366 11865916 PON1 paraoxonase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.Q192R (human) PMID:18290860|REF_RGD_ID:2313269 11865916 PON1 paraoxonase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17949258|REF_RGD_ID:2313270 11865916 PON1 paraoxonase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19328014|REF_RGD_ID:2307252 11865916 PON1 paraoxonase 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (human) PMID:9591753|REF_RGD_ID:8547663 11865916 PON1 paraoxonase 1 gene DOID:9352 type 2 diabetes mellitus severity ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Diabetic Retinopathy;DNA:missense mutations:cds:p.L55M, p.Q192R (human) PMID:10677395|REF_RGD_ID:8547560 11865916 PON1 paraoxonase 1 gene DOID:9452 fatty liver disease ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26945512 11865916 PON1 paraoxonase 1 gene DOID:9538 multiple myeloma severity ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:25520116|REF_RGD_ID:11552578 11865916 PON1 paraoxonase 1 gene DOID:9538 multiple myeloma susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q192R (human) PMID:15136237|REF_RGD_ID:10450846 11865916 PON1 paraoxonase 1 gene DOID:9538 multiple myeloma treatment ISO RGD:1349272 D RGD:9068941 20200609 RGD PMID:22348216|REF_RGD_ID:11040544 11865916 PON1 paraoxonase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17949258|REF_RGD_ID:2313270 11865916 PON1 paraoxonase 1 gene DOID:9746 hemorrhoid ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19022366 11865916 PON1 paraoxonase 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L55M (rs854560), p.Q192R (rs662) (human) PMID:22976839|REF_RGD_ID:11552580 11865934 NABP1 nucleic acid binding protein 1 gene DOID:2377 multiple sclerosis ISO RGD:1603967 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 11865934 NABP1 nucleic acid binding protein 1 gene DOID:630 genetic disease ISO RGD:1603967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865934 NABP1 nucleic acid binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:0050700 cardiomyopathy ISO RGD:1620890 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33171190 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21325069 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle, liver PMID:19323616|REF_RGD_ID:4890033 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:polymorphism: :3435C>T (human) PMID:16107775|REF_RGD_ID:2312343 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:730823 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:0060750 familial temporal lobe epilepsy 3 ISO RGD:730823 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: MDR1 POLYMORPHISM PMID:10716719|PMID:11502320|PMID:12686700|PMID:15452305|PMID:15452306|PMID:15805193|PMID:17185560|PMID:22296372 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:22112382|REF_RGD_ID:11040992 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:0080600 COVID-19 ISO RGD:730823 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma severity ISO RGD:730823 D RGD:9068941 20200609 RGD Nasal Type;protein:increased expression:nasal cavity (human) PMID:18756548|REF_RGD_ID:8657087 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:0110893 inflammatory bowel disease 13 ISO RGD:730823 D RGD:7240710 20180130 OMIM 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:0110893 inflammatory bowel disease 13 ISO RGD:730823 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 13 PMID:14610718|PMID:16434479|PMID:25741868|PMID:9820555 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:10652 Alzheimer's disease ISO RGD:1620890 D RGD:9068941 20200609 RGD PMID:25991605|REF_RGD_ID:13801010 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:114 heart disease ISO RGD:1620890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:1168 familial hyperlipidemia ISO RGD:1620890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24502637 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:1168 familial hyperlipidemia susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:SNP::2677G>T/A(rs2032582)(human) PMID:26922556|REF_RGD_ID:11574565 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:11832 visual epilepsy ISO RGD:619951 D RGD:9068941 20200609 RGD Audiogenic Seizures;mRNA:increased expression:cerebral cortex, midbrain (rat) PMID:12423380|REF_RGD_ID:8657333 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:1227 neutropenia ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16950614|PMID:25007187 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:12365 malaria ISO RGD:730823 D RGD:9068941 20201008 RGD DNA:hypermethylation:promoter PMID:19331170|REF_RGD_ID:39457680 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:12365 malaria susceptibility ISO RGD:730823 D RGD:9068941 20201008 RGD DNA:SNPs,haplotype: :rs2032582, rs1128503 (human) PMID:28422980|REF_RGD_ID:39457679 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:12365 malaria treatment ISO RGD:730823 D RGD:9068941 20201008 RGD DNA:SNP: :c3435C>T(human) PMID:28934955|REF_RGD_ID:39456120 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:12365 malaria treatment ISO RGD:730823 D RGD:9068941 20201008 RGD DNA:haplotype: :1236C>T, 2677G>T,3435C>T (human) PMID:17015054|REF_RGD_ID:39456123 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:13241 Behcet's disease ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I (human) PMID:22705826|REF_RGD_ID:8657073 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:13250 diarrhea ISO RGD:1620890 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32387182 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:13548 secondary Parkinson disease ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26457621 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:14330 Parkinson's disease ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20558393 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:14566 disease of cellular proliferation ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22269388 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:150 disease of mental health ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17015054 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:1682 congenital heart disease ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23874772 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:1824 status epilepticus ISO RGD:1620890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14706787 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:1826 epilepsy ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19570321|PMID:8001500 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:1826 epilepsy ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:SNP: :3435C>T (human) PMID:12686700|REF_RGD_ID:1358366 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:1826 epilepsy treatment ISO RGD:619951 D RGD:9068941 20200609 RGD PMID:28303499|REF_RGD_ID:13524859 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:730823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:2154 nephroblastoma disease_progression ISO RGD:730823 D RGD:9068941 20200609 RGD PMID:11888090|REF_RGD_ID:2315560 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:730823 D RGD:9068941 20200609 RGD PMID:19603017|REF_RGD_ID:2315556 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:2841 asthma ISO RGD:730823 D RGD:9068941 20200609 RGD protein:increased expression:blood, lymphocyte PMID:19484671|REF_RGD_ID:4890020 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:2917 cryoglobulinemia susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD associated with hepatitis C;DNA:SNP: :3435C>T(human) PMID:28453396|REF_RGD_ID:14700902 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:2957 pulmonary tuberculosis treatment ISO RGD:730823 D RGD:9068941 20201002 RGD DNA:SNP: :2677G>A (human) PMID:26067842|REF_RGD_ID:11098541 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:2987 familial Mediterranean fever no_association ISO RGD:730823 D RGD:9068941 20201002 RGD PMID:23408444|REF_RGD_ID:39456097 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:2987 familial Mediterranean fever susceptibility ISO RGD:730823 D RGD:9068941 20201002 RGD DNA:SNP,haplotype:exon:3435C>T(human) PMID:24773260|REF_RGD_ID:39456095 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:2987 familial Mediterranean fever treatment ISO RGD:730823 D RGD:9068941 20201002 RGD DNA:SNP: :3435C>T(human) PMID:17610314|REF_RGD_ID:39456094 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:730823 D RGD:9068941 20200609 RGD PMID:19879256|REF_RGD_ID:2315549 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:305 carcinoma ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21332314 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus (rat) PMID:15380564|REF_RGD_ID:1358367 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:3602 toxic encephalopathy ISO RGD:12063362 D RGD:9068941 20230323 OMIA Multidrug resistance 1, ABCB1-related PMID:10803640|PMID:11692082|PMID:11939306|PMID:12559367|PMID:12774979|PMID:14627096|PMID:14765742|PMID:15289602|PMID:15305851|PMID:15932411|PMID:15975717|PMID:16327220|PMID:16343287|PMID:16594604|PMID:17199425|PMID:17644437|PMID:17803743|PMID:17877579|PMID:18557525|PMID:18605373|PMID:18795852|PMID:18922637|PMID:19152588|PMID:19171022|PMID:1917657|PMID:19733104|PMID:20043790|PMID:20391637|PMID:20655253|PMID:21113104|PMID:21488961|PMID:22039792|PMID:22329447|PMID:22362942|PMID:22735986|PMID:2345955|PMID:24302812|PMID:24332606|PMID:2475964|PMID:26153274|PMID:27387721|PMID:27525650|PMID:28061549|PMID:30020547|PMID:30139545|PMID:31113564|PMID:31555677|PMID:31685133|PMID:31711409|PMID:31743433|PMID:35017851|PMID:3592367|PMID:36037240|PMID:36326478|PMID:36786530|PMID:36924353|PMID:6368862|PMID:7768734|PMID:8647944 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:3602 toxic encephalopathy ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12352921 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:3602 toxic encephalopathy susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: 3435T>C(human) PMID:17938643|REF_RGD_ID:11081146 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730823 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Non-small cell lung cancer PMID:10716719|PMID:11502320|PMID:12686700|PMID:15452305|PMID:15452306|PMID:15805193|PMID:17185560|PMID:22296372 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:SNPs: :2677G>T, 3435C>T(human) PMID:17534875|REF_RGD_ID:11080964 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:3948 adrenocortical carcinoma ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12015757 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:4450 renal cell carcinoma ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:polymorphism: :3435C>T (human) PMID:12089380|REF_RGD_ID:2315559 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:730823 D RGD:9068941 20200609 RGD PMID:17177989|REF_RGD_ID:2315557 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:4481 allergic rhinitis severity ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:snp:exon:c.1236C>T (human) PMID:24040855|REF_RGD_ID:8657076 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:730823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:altered expression:brain, heart, kidney (rat) PMID:24472536|REF_RGD_ID:11041168 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:526 human immunodeficiency virus infectious disease severity ISO RGD:730823 D RGD:9068941 20201002 RGD PMID:27334660|REF_RGD_ID:39456096 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:526 human immunodeficiency virus infectious disease treatment ISO RGD:730823 D RGD:9068941 20201002 RGD DNA:SNPs: :4036A>G, 1236C>T (human) PMID:23133441|REF_RGD_ID:39456100 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25275603 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:557 kidney disease ISO RGD:1620890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24502637 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:730823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:574 peripheral nervous system disease ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16950614 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:6225 Cronkhite-Canada syndrome ISO RGD:1620890 D RGD:9068941 20200609 RGD mRNA:increased expression:small intestine (mouse) PMID:12615699|REF_RGD_ID:8657097 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:630 genetic disease ISO RGD:730823 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:635 acquired immunodeficiency syndrome treatment ISO RGD:730823 D RGD:9068941 20201008 RGD DNA:SNP: : rs10276036(human) PMID:24517233|REF_RGD_ID:11098698 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:635 acquired immunodeficiency syndrome treatment ISO RGD:730823 D RGD:9068941 20201008 RGD DNA:haplotype: :3435T>C((rs1045642), 2677T>G (rs2032582) (human) PMID:23372834|REF_RGD_ID:39456119 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:619951 D RGD:9068941 20200609 RGD PMID:25625052|REF_RGD_ID:11041138 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17510421 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:polymorphism: : c.1465C > T(human) PMID:23488625|REF_RGD_ID:14700904 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.3751G>A(human) PMID:24175826|REF_RGD_ID:14700905 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:7148 rheumatoid arthritis ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20080907|PMID:22104130 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:769 neuroblastoma ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8761367 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:783 end stage renal disease ISO RGD:619951 D RGD:9068941 20200609 RGD PMID:17135344|REF_RGD_ID:2301067 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :3435C>T (human) PMID:26250462|REF_RGD_ID:11081180 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:SNPs: :1236T>C,2677G>A(human) PMID:24581936|REF_RGD_ID:11081178 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:8577 ulcerative colitis susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD PMID:15505619|REF_RGD_ID:1598568 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:863 nervous system disease ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17015054|PMID:21064136 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:8677 perinatal necrotizing enterocolitis susceptibility ISO RGD:1620890 D RGD:9068941 20200609 RGD PMID:21788941|REF_RGD_ID:8657143 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:8778 Crohn's disease susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD PMID:15505619|REF_RGD_ID:1598568 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9000046 Poisoning ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23562926 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21332314 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22311042 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9000457 Germ Cell and Embryonal Neoplasms disease_progression ISO RGD:730823 D RGD:9068941 20200609 RGD PMID:9713510|REF_RGD_ID:2315562 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9000641 Pain ISO RGD:1620890 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28193520 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9000740 ST Elevation Myocardial Infarction treatment ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1045642,rs7779562(human) PMID:25217066|REF_RGD_ID:14700903 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9000918 Disease Progression ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20627363 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12015757 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9001371 Eosinophilia ISO RGD:730823 D RGD:9068941 20200609 RGD associated with Chronic Rhinosinusitis;protein:increased expression:mucosa of ethmoidal sinus (human) PMID:24717943|REF_RGD_ID:8657092 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9001472 Nasal Polyps ISO RGD:730823 D RGD:9068941 20200609 RGD associated with Chronic Rhinosinusitis;protein:increased expression:nasal sinus (human) PMID:22223515|REF_RGD_ID:8657074 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1620890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16182555 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9001827 Critical Illness treatment ISO RGD:730823 D RGD:9068941 20201002 RGD DNA:SNP:exon:3435C>T(human) PMID:29979333|REF_RGD_ID:39456099 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:increased expression:placenta PMID:16225763|REF_RGD_ID:2306659 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22311042 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9002457 Experimental Arthritis ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:altered expression:liver PMID:19152228|REF_RGD_ID:2315573 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9002457 Experimental Arthritis ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:decreased expression:intestinal mucosa (rat) PMID:17827786|REF_RGD_ID:11040994 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9002457 Experimental Arthritis ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17827786 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:730823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:16467099 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9002953 Escherichia Coli Infections ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24498193 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9003971 Postoperative Pain ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20627697 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1620890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22749977 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:SNP::2677G>T/A(rs2032582)(human) PMID:26922556|REF_RGD_ID:11574565 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:SNP: :3435C>T(human) PMID:29155127|REF_RGD_ID:14700907 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD Breast Neoplasms;DNA:SNP: :3435 C>T(human) PMID:22271208|REF_RGD_ID:11081001 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP: :2677G>T(human) PMID:17534875|REF_RGD_ID:11080964 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNPs:rs1045642,rs1128503(human) PMID:25007187|REF_RGD_ID:11080979 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9004751 Nausea ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21840870 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1620890 D RGD:9068941 20200609 RGD PMID:19654309|REF_RGD_ID:2315553 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9005372 Inflammation ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:decreased expression:jejunum, ileum, intestinal mucosa (rat) PMID:24515798|REF_RGD_ID:11041153 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:17664251|REF_RGD_ID:2312730 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619951 D RGD:9068941 20200609 RGD protein: decreased expression PMID:17074306|REF_RGD_ID:1598559 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9005643 Experimental Diabetes Mellitus disease_progression ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum, intestinal mucosa (rat) PMID:26460146|REF_RGD_ID:11041112 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:619951 D RGD:9068941 20200609 RGD PMID:21685928|REF_RGD_ID:8657121 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9005930 Endotoxemia ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:26977098|REF_RGD_ID:11041000 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9005950 Orthostatic Hypotension ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12082591 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9006532 Hematologic Neoplasms ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22311042 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1620890 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:24502637|PMID:28193520|PMID:32387182 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18381794|PMID:20563569|PMID:21064136|PMID:25007187 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1620890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26134275 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:1620890 D RGD:9068941 20200609 RGD PMID:26134275|REF_RGD_ID:11041130 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:SNP::2677G>T/A(rs2032582)(human) PMID:27296832|REF_RGD_ID:14700895 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9007432 Latent Tuberculosis ISO RGD:730823 D RGD:9068941 20210212 RGD mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human) PMID:29602771|REF_RGD_ID:41404732 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9007659 Anthracycline-induced Cardiotoxicity susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G671V (human) PMID:16330681|REF_RGD_ID:11041175 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9007973 Genetic Translocation ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21325069 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9008114 Helicobacter Infections no_association ISO RGD:730823 D RGD:9068941 20201008 RGD DNA:haplotype: :3435T> C,2677T>G ,1236C>T (human) PMID:27611887|REF_RGD_ID:39456122 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9008114 Helicobacter Infections sexual_dimorphism ISO RGD:730823 D RGD:9068941 20201008 RGD associated with peptic ulcer disease;DNA:SNP: :3435C>T(human) PMID:22001987|REF_RGD_ID:39456093 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9008385 Vomiting ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21840870 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766|PMID:23977225 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22311042 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:polymorphism: :3435C>T (human) PMID:19752884|REF_RGD_ID:2315550 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:polymorphism:exon (human) PMID:19470683|REF_RGD_ID:2312331 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9505 cannabis abuse ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19625010 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9588 encephalitis ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain, liver (rat) PMID:12746221|REF_RGD_ID:8657083 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22674224 11865951 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:snps, haplotype:multiple (human) PMID:22674224|REF_RGD_ID:8657089 11865985 ABTB3 ankyrin repeat and BTB domain containing 3 gene DOID:10283 prostate cancer ISO RGD:1318539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11865985 ABTB3 ankyrin repeat and BTB domain containing 3 gene DOID:630 genetic disease ISO RGD:1318539 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11865985 ABTB3 ankyrin repeat and BTB domain containing 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1318539 D RGD:9068941 20221208 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11866007 SFTPB surfactant protein B gene DOID:0050848 obstructive sleep apnea ISO RGD:737197 D RGD:9068941 20220414 RGD protein:decreased expression:serum: PMID:25953386|REF_RGD_ID:151667446 11866007 SFTPB surfactant protein B gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:737197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 11866007 SFTPB surfactant protein B gene DOID:11162 respiratory failure ISO RGD:737197 D RGD:9068941 20200609 RGD associated with Pulmonary Alveolar Proteinosis;DNA:insertion:exon:375delCinsGAA (human) PMID:8163685|REF_RGD_ID:1624152 11866007 SFTPB surfactant protein B gene DOID:11162 respiratory failure ISO RGD:737197 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive;DNA:polymorphism:intron (human) PMID:12515908|REF_RGD_ID:4143414 11866007 SFTPB surfactant protein B gene DOID:11162 respiratory failure ISO RGD:737198 D RGD:9068941 20200609 RGD PMID:12639841|PMID:1622844|REF_RGD_ID:4143410|REF_RGD_ID:4143460 11866007 SFTPB surfactant protein B gene DOID:11339 pneumocystosis ISO RGD:737198 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:11385364|REF_RGD_ID:4143431 11866007 SFTPB surfactant protein B gene DOID:11394 adult respiratory distress syndrome ISO RGD:737197 D RGD:9068941 20200609 RGD associated with Pneumonia;DNA:polymorphism: :1580C>T (human) PMID:15190959|REF_RGD_ID:4143404 11866007 SFTPB surfactant protein B gene DOID:11394 adult respiratory distress syndrome ISO RGD:737197 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:17662121|REF_RGD_ID:4143379 11866007 SFTPB surfactant protein B gene DOID:11394 adult respiratory distress syndrome ISO RGD:737197 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:9351625|REF_RGD_ID:4143447 11866007 SFTPB surfactant protein B gene DOID:11394 adult respiratory distress syndrome susceptibility ISO RGD:737197 D RGD:9068941 20200609 RGD associated with Lung Injury;DNA:polymorphism:intron (human) PMID:14718442|REF_RGD_ID:4143408 11866007 SFTPB surfactant protein B gene DOID:11650 bronchopulmonary dysplasia ISO RGD:737197 D RGD:9068941 20200609 RGD PMID:17264398|REF_RGD_ID:4143384 11866007 SFTPB surfactant protein B gene DOID:11650 bronchopulmonary dysplasia ISO RGD:737197 D RGD:9068941 20200609 RGD DNA:deletion:intron (human) PMID:15102713|REF_RGD_ID:4143405 11866007 SFTPB surfactant protein B gene DOID:11650 bronchopulmonary dysplasia susceptibility ISO RGD:737197 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:12424586|REF_RGD_ID:4143418 11866007 SFTPB surfactant protein B gene DOID:11650 bronchopulmonary dysplasia susceptibility ISO RGD:737197 D RGD:9068941 20220414 RGD DNA:SNPs:5'UTR,exon: PMID:26045806|REF_RGD_ID:11085373 11866007 SFTPB surfactant protein B gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:737197 D RGD:9068941 20200609 RGD protein:altered processing:lung PMID:16042774|REF_RGD_ID:4143392 11866007 SFTPB surfactant protein B gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:737197 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:12612307|REF_RGD_ID:4143411 11866007 SFTPB surfactant protein B gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:737198 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:7654386|REF_RGD_ID:4143454 11866007 SFTPB surfactant protein B gene DOID:12716 newborn respiratory distress syndrome ISO RGD:621700 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung PMID:11504697|REF_RGD_ID:4143428 11866007 SFTPB surfactant protein B gene DOID:12716 newborn respiratory distress syndrome ISO RGD:737197 D RGD:9068941 20200609 RGD PMID:12490037|PMID:18353230|REF_RGD_ID:4143376|REF_RGD_ID:4143416 11866007 SFTPB surfactant protein B gene DOID:12716 newborn respiratory distress syndrome ISO RGD:737197 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:7832777|REF_RGD_ID:4143455 11866007 SFTPB surfactant protein B gene DOID:12716 newborn respiratory distress syndrome susceptibility ISO RGD:737197 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.T131I (human) PMID:11063734|REF_RGD_ID:4143433 11866007 SFTPB surfactant protein B gene DOID:12716 newborn respiratory distress syndrome susceptibility ISO RGD:737197 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:12424586|REF_RGD_ID:4143418 11866007 SFTPB surfactant protein B gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:737197 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:10194154|REF_RGD_ID:4143439 11866007 SFTPB surfactant protein B gene DOID:1273 respiratory syncytial virus infectious disease severity ISO RGD:737197 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, cds, intron:-32G>T (rs2077079), p.T131I (rs1130866), 5781A>C (rs2040349) (human) PMID:17498296|REF_RGD_ID:4143382 11866007 SFTPB surfactant protein B gene DOID:1324 lung cancer ISO RGD:737197 D RGD:9068941 20220407 RGD PMID:24248694|REF_RGD_ID:151667422 11866007 SFTPB surfactant protein B gene DOID:1324 lung cancer disease_progression ISO RGD:737197 D RGD:9068941 20220407 RGD PMID:28743125|REF_RGD_ID:151667423 11866007 SFTPB surfactant protein B gene DOID:14115 toxic shock syndrome ISO RGD:737197 D RGD:9068941 20200609 RGD associated with Pneumonia;DNA:polymorphism: :1580C>T (human) PMID:15190959|REF_RGD_ID:4143404 11866007 SFTPB surfactant protein B gene DOID:1485 cystic fibrosis ISO RGD:737197 D RGD:9068941 20200609 RGD mRNA:increased expression:respiratory system mucosa PMID:17507829|REF_RGD_ID:4143381 11866007 SFTPB surfactant protein B gene DOID:2841 asthma ISO RGD:621700 D RGD:9068941 20200609 RGD protein:decreased expression:lung, Clara cell PMID:15816355|REF_RGD_ID:4143398 11866007 SFTPB surfactant protein B gene DOID:2841 asthma ISO RGD:737197 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:16629790|REF_RGD_ID:4143462 11866007 SFTPB surfactant protein B gene DOID:2841 asthma ISO RGD:737198 D RGD:9068941 20200609 RGD PMID:18926058|REF_RGD_ID:4143289 11866007 SFTPB surfactant protein B gene DOID:2841 asthma ISO RGD:737198 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung PMID:11472974|REF_RGD_ID:4143465 11866007 SFTPB surfactant protein B gene DOID:2914 immune system disease ISO RGD:737198 D RGD:9068941 20200609 RGD associated with Pneumonia, Pneumocystis carinii;protein:decreased expression:lung PMID:19201882|REF_RGD_ID:4143286 11866007 SFTPB surfactant protein B gene DOID:3082 interstitial lung disease ISO RGD:737197 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;DNA:SNP: :p.T131I (rs1130866) (human) PMID:18263595|REF_RGD_ID:4143377 11866007 SFTPB surfactant protein B gene DOID:3082 interstitial lung disease ISO RGD:737197 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:11445799|REF_RGD_ID:4143430 11866007 SFTPB surfactant protein B gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737197 D RGD:9068941 20200609 RGD DNA:SNP: :p.T131I (rs1130866) (human) PMID:15817713|REF_RGD_ID:4143396 11866007 SFTPB surfactant protein B gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:737197 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:18550614|REF_RGD_ID:4143290 11866007 SFTPB surfactant protein B gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:737197 D RGD:9068941 20200609 RGD DNA:polymorphism: :1580C>T (human) PMID:11589345|PMID:15315329|REF_RGD_ID:4143402|REF_RGD_ID:4143423 11866007 SFTPB surfactant protein B gene DOID:3770 pulmonary fibrosis susceptibility ISO RGD:737197 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:13680361|REF_RGD_ID:4143409 11866007 SFTPB surfactant protein B gene DOID:3827 congenital diaphragmatic hernia treatment ISO RGD:621700 D RGD:9068941 20220408 RGD PMID:11051153|REF_RGD_ID:151667435 11866007 SFTPB surfactant protein B gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:737197 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:16570259|REF_RGD_ID:4143389 11866007 SFTPB surfactant protein B gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:737197 D RGD:9068941 20220407 RGD DNA:variants:intron: PMID:12107845|REF_RGD_ID:151667424 11866007 SFTPB surfactant protein B gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:737197 D RGD:9068941 20220407 RGD DNA:SNPs: :rs7316, rs9752 (human) PMID:31016788|REF_RGD_ID:151667418 11866007 SFTPB surfactant protein B gene DOID:552 pneumonia ISO RGD:737197 D RGD:9068941 20200609 RGD PMID:16024721|REF_RGD_ID:4143393 11866007 SFTPB surfactant protein B gene DOID:552 pneumonia ISO RGD:737198 D RGD:9068941 20200609 RGD PMID:12594064|PMID:15967375|REF_RGD_ID:4143394|REF_RGD_ID:4143412 11866007 SFTPB surfactant protein B gene DOID:630 genetic disease ISO RGD:737197 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11866007 SFTPB surfactant protein B gene DOID:850 lung disease ISO RGD:10717 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:16309574|REF_RGD_ID:4143390 11866007 SFTPB surfactant protein B gene DOID:850 lung disease ISO RGD:621700 D RGD:9068941 20200609 RGD Meconium Aspiration Syndrome;protein:decreased expression:lung PMID:9374572|REF_RGD_ID:4143446 11866007 SFTPB surfactant protein B gene DOID:850 lung disease ISO RGD:621700 D RGD:9068941 20200609 RGD associated with Hyperoxia;mRNA:increased expression:lung PMID:19099817|REF_RGD_ID:4143287 11866007 SFTPB surfactant protein B gene DOID:850 lung disease ISO RGD:737197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16863852 11866007 SFTPB surfactant protein B gene DOID:850 lung disease ISO RGD:737197 D RGD:9068941 20200609 RGD Acute Lung Injury;mRNA:increased expression:pneumocyte PMID:8569184|REF_RGD_ID:4143451 11866007 SFTPB surfactant protein B gene DOID:850 lung disease ISO RGD:737197 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;protein:increased expression:lung PMID:16274485|REF_RGD_ID:4143463 11866007 SFTPB surfactant protein B gene DOID:850 lung disease ISO RGD:737197 D RGD:9068941 20200609 RGD protein:altered processing:lung PMID:16042774|REF_RGD_ID:4143392 11866007 SFTPB surfactant protein B gene DOID:874 bacterial pneumonia ISO RGD:621700 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:12169586|REF_RGD_ID:4143464 11866007 SFTPB surfactant protein B gene DOID:874 bacterial pneumonia ISO RGD:737197 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;protein:increased expression:lung PMID:15271694|REF_RGD_ID:4143403 11866007 SFTPB surfactant protein B gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:737198 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:14748931|REF_RGD_ID:4143407 11866007 SFTPB surfactant protein B gene DOID:9001026 Pulmonary Surfactant Metabolism Dysfunction 1 ISO RGD:737197 D RGD:7240710 20180130 OMIM 11866007 SFTPB surfactant protein B gene DOID:9001026 Pulmonary Surfactant Metabolism Dysfunction 1 ISO RGD:737197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTERSTITIAL LUNG DISEASE DUE TO SURFACTANT PROTEIN B DEFICIENCY | ClinVar Annotator: match by term: PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 1 | ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1 PMID:10378403|PMID:10571948|PMID:10712351|PMID:10960490|PMID:21965505|PMID:23625987|PMID:24033266|PMID:25741868|PMID:26199800|PMID:28492532|PMID:28888561|PMID:7491219|PMID:8163685|PMID:9506635|PMID:9682215|PMID:9973546 11866007 SFTPB surfactant protein B gene DOID:9001049 Staphylococcal Pneumonia ameliorates ISO RGD:737197 D RGD:9068941 20220414 RGD PMID:20007532|REF_RGD_ID:151667448 11866007 SFTPB surfactant protein B gene DOID:9002379 Congenital Deficiency of Pulmonary Surfactant Protein B ISO RGD:737197 D RGD:9068941 20220414 RGD DNA:mutations: : PMID:10378403|REF_RGD_ID:151667447 11866007 SFTPB surfactant protein B gene DOID:9002379 Congenital Deficiency of Pulmonary Surfactant Protein B ameliorates ISO RGD:737197 D RGD:9068941 20220414 RGD PMID:28581337|REF_RGD_ID:151667445 11866007 SFTPB surfactant protein B gene DOID:9003953 Surfactant Dysfunction ISO RGD:737197 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction PMID:10571948|PMID:10712351|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28888561|PMID:7491219|PMID:9506635|PMID:9973546 11866007 SFTPB surfactant protein B gene DOID:9004610 Acute Lung Injury treatment ISO RGD:621700 D RGD:9068941 20220408 RGD PMID:22295533|REF_RGD_ID:151667443 11866007 SFTPB surfactant protein B gene DOID:9005172 Lung Neoplasms ISO RGD:737197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16570259 11866007 SFTPB surfactant protein B gene DOID:9007417 Pseudomonas Infections ameliorates ISO RGD:737197 D RGD:9068941 20220414 RGD PMID:20007532|REF_RGD_ID:151667448 11866007 SFTPB surfactant protein B gene DOID:9007480 Hyperoxia ISO RGD:621700 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:11472975|REF_RGD_ID:4143429 11866007 SFTPB surfactant protein B gene DOID:9007480 Hyperoxia ISO RGD:737198 D RGD:9068941 20200609 RGD PMID:10502556|REF_RGD_ID:4143438 11866007 SFTPB surfactant protein B gene DOID:9009073 Diaphragmatic Hernia ISO RGD:737197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10830305|PMID:16863852 11866007 SFTPB surfactant protein B gene DOID:9970 obesity ISO RGD:621700 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15136884|REF_RGD_ID:4143472 11866029 TRHDE thyrotropin releasing hormone degrading enzyme gene DOID:2843 long QT syndrome ISO RGD:730936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11866029 TRHDE thyrotropin releasing hormone degrading enzyme gene DOID:630 genetic disease ISO RGD:730936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11866052 LOC100977215 uncharacterized LOC100977215 gene DOID:0080942 anauxetic dysplasia ISO RGD:16550913 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11866070 EEF1E1 eukaryotic translation elongation factor 1 epsilon 1 gene DOID:10534 stomach cancer ISO RGD:1322308 D RGD:9068941 20200609 RGD protein:decreased expression:stomach: PMID:21789020|REF_RGD_ID:10401218 11866070 EEF1E1 eukaryotic translation elongation factor 1 epsilon 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1322308 D RGD:9068941 20200609 RGD protein:decreased expression:urothelium: PMID:24917520|REF_RGD_ID:10401219 11866070 EEF1E1 eukaryotic translation elongation factor 1 epsilon 1 gene DOID:3911 progeria ISO RGD:1322309 D RGD:9068941 20200609 RGD PMID:20726853|REF_RGD_ID:10401221 11866070 EEF1E1 eukaryotic translation elongation factor 1 epsilon 1 gene DOID:630 genetic disease ISO RGD:1322308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11866070 EEF1E1 eukaryotic translation elongation factor 1 epsilon 1 gene DOID:9256 colorectal cancer ISO RGD:1322308 D RGD:9068941 20200609 RGD protein:decreased expression:colorectum: PMID:21789020|REF_RGD_ID:10401218 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:0050553 JMP syndrome ISO RGD:735341 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:12162767|REF_RGD_ID:8662376 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:0050866 oral squamous cell carcinoma ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:10873097|REF_RGD_ID:8662371 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:15817070|REF_RGD_ID:8662374 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:0050866 oral squamous cell carcinoma no_association ISO RGD:735341 D RGD:9068941 20200609 RGD DNA:polymorphism: :98C>A(human) PMID:18251939|REF_RGD_ID:8662395 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:735341 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:149A>G(human) PMID:10873097|REF_RGD_ID:8662371 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:69328 D RGD:9068941 20200609 RGD PMID:23857431|REF_RGD_ID:10043364 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:0060074 ductal carcinoma in situ disease_progression ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:12628841|REF_RGD_ID:2289659 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:0060224 atrial fibrillation ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:0060224 atrial fibrillation ISO RGD:735341 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:atriim PMID:16043935|REF_RGD_ID:8662360 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:16462758|REF_RGD_ID:8662844 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:20369488|REF_RGD_ID:8547768 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:10283 prostate cancer ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:18237448|REF_RGD_ID:2289639 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:1070 primary open angle glaucoma no_association ISO RGD:735341 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.S31R(human) PMID:15807891|REF_RGD_ID:8661806 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:735341 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.S31R(human) PMID:14738489|REF_RGD_ID:8661807 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:1073 renal hypertension ISO RGD:69328 D RGD:9068941 20200609 RGD protein:decreased expression:vascular associated smooth muscle cell PMID:17439406|REF_RGD_ID:2289672 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:10964 cholesteatoma of middle ear ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression: PMID:23324739|REF_RGD_ID:8661795 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:10966 lipoid nephrosis treatment ISO RGD:69328 D RGD:9068941 20200609 RGD PMID:24119646|REF_RGD_ID:10043363 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:11054 urinary bladder cancer ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18640142 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:11335 sarcoidosis ISO RGD:735341 D RGD:9068941 20200609 RGD mRNA:increased expression:skin: PMID:12885947|REF_RGD_ID:8662819 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:11555 Fuchs' endothelial dystrophy ISO RGD:732911 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cornea,nucleus: PMID:22956607|REF_RGD_ID:8661808 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:11555 Fuchs' endothelial dystrophy ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:22956607|REF_RGD_ID:8661808 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12868502 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:12236 primary biliary cholangitis ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:epithelial cell: PMID:18456456|REF_RGD_ID:8662434 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:12689 acoustic neuroma ISO RGD:735341 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:myelinated nerve: PMID:20600642|REF_RGD_ID:8661792 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:1749 squamous cell carcinoma ISO RGD:735341 D RGD:9068941 20200609 RGD associated with Varicose Ulcer;protein:increased expression:skin: PMID:11028856|REF_RGD_ID:8662856 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:1749 squamous cell carcinoma disease_progression ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:9655223|REF_RGD_ID:8662356 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:1790 malignant mesothelioma ISO RGD:735341 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:11453316 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:1909 melanoma ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:22311377|REF_RGD_ID:8662421 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:1909 melanoma ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:9194578|REF_RGD_ID:8662817 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:2615 papilloma ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:10430900|REF_RGD_ID:8662432 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:2615 papilloma ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151359 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:2615 papilloma ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:11684723|REF_RGD_ID:8662351 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:2671 transitional cell carcinoma ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151359|PMID:18640142 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:2876 laryngeal squamous cell carcinoma ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:15646812|REF_RGD_ID:8662837 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:305 carcinoma ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:10430900|REF_RGD_ID:8662432 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:3070 high grade glioma severity ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:18791688|REF_RGD_ID:13702128 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:3070 high grade glioma severity ISO RGD:735341 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:20844987|REF_RGD_ID:13702125 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:3070 high grade glioma treatment ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:9144534|REF_RGD_ID:13702129 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735341 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35303175 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:3114 serous cystadenocarcinoma disease_progression ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:16012716|REF_RGD_ID:8662305 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:3179 inverted papilloma ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:19863319|PMID:21608063|REF_RGD_ID:8662353|REF_RGD_ID:8662357 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:17671118|REF_RGD_ID:8662851 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15375580 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:735341 D RGD:9068941 20210910 RGD human cells in mouse model PMID:23632475|REF_RGD_ID:150404268 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:4448 macular degeneration ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:20054800|REF_RGD_ID:10043353 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:4905 pancreatic carcinoma ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:9252195|REF_RGD_ID:8662427 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:5517 stomach carcinoma disease_progression ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:11745255|REF_RGD_ID:8662389 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:557 kidney disease ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16968891 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:5759 sebaceous gland neoplasm ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:12354803|REF_RGD_ID:8662839 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:pituitary gland: PMID:18981426|REF_RGD_ID:8662821 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:630 genetic disease ISO RGD:735341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:6432 pulmonary hypertension treatment ISO RGD:69328 D RGD:9068941 20200609 RGD PMID:24412385|REF_RGD_ID:10043361 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:6432 pulmonary hypertension treatment ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:24334871|REF_RGD_ID:10043360 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:684 hepatocellular carcinoma ISO RGD:732911 D RGD:9068941 20220825 MouseDO OMIM:114550 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:7910 maxillary sinus squamous cell carcinoma ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:15040115|REF_RGD_ID:8662355 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:8472 localized scleroderma ISO RGD:732911 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:skin: PMID:15803328|REF_RGD_ID:8662838 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:8577 ulcerative colitis disease_progression ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:15743319|REF_RGD_ID:8662406 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:8893 psoriasis ISO RGD:735341 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:skin: PMID:7636313|REF_RGD_ID:8662825 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:69328 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:17714589|REF_RGD_ID:2289666 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:735341 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:17714589|REF_RGD_ID:2289666 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:epithelial cell: PMID:9546362|REF_RGD_ID:8662446 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9000040 Hypertrophy ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27652271 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9000081 Lymphatic Metastasis ISO RGD:735341 D RGD:9068941 20200609 RGD associated with Eyelid Neoplasms; PMID:19628749|REF_RGD_ID:8661799 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9000081 Lymphatic Metastasis ISO RGD:735341 D RGD:9068941 20200609 RGD associated with Oral Squamous Cell Carcinoma; PMID:15817070|REF_RGD_ID:8662374 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9000117 Esophageal Neoplasms disease_progression ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:11903577|REF_RGD_ID:8662379 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9000217 Stomach Neoplasms ISO RGD:69328 D RGD:9068941 20200609 RGD protein:increased expression:stomach PMID:23890812|REF_RGD_ID:13792775 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9000217 Stomach Neoplasms ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14647439 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9000332 Hypovolemia ISO RGD:69328 D RGD:9068941 20200609 RGD PMID:10451498|REF_RGD_ID:10043817 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9000403 Animal Mammary Neoplasms onset ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:11103935|REF_RGD_ID:8662404 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9000965 Neoplasm Metastasis ISO RGD:735341 D RGD:9068941 20200609 RGD associated with Melanoma; PMID:9194578|REF_RGD_ID:8662817 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9000998 Brain Injuries ISO RGD:69328 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:9914434|REF_RGD_ID:8662346 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:69328 D RGD:9068941 20200609 RGD protein:decreased expression:liver: PMID:8640740|REF_RGD_ID:8662309 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9002085 Congenital Cholesteatoma ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression: PMID:23324739|REF_RGD_ID:8661795 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9002165 Diabetic Nephropathies ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27652271 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9002221 Hyperplasia ISO RGD:69328 D RGD:9068941 20200609 RGD protein:increased expression PMID:23890812|REF_RGD_ID:13792775 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9002234 Pituitary Neoplasms ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:18981426|REF_RGD_ID:8662821 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9002245 Intestinal Neoplasms ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:11212250|REF_RGD_ID:8662377 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9002245 Intestinal Neoplasms ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11535846|PMID:12468628 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9002304 Prostatic Neoplasms ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12727815|PMID:15598783 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9002644 Premature Aging ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:23207764|REF_RGD_ID:10043192 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9002762 Ovarian Neoplasms ISO RGD:735341 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:9006333|REF_RGD_ID:2289661 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:21187137|REF_RGD_ID:8661793 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9002928 Colonic Neoplasms ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20876807 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9003036 Oral Lichen Planus ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:mucosa: PMID:12076323|REF_RGD_ID:8662419 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9003216 Salivary Gland Neoplasms onset ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:11103935|REF_RGD_ID:8662404 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:735341 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix PMID:18203777|REF_RGD_ID:2289651 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9004009 Reperfusion Injury ISO RGD:69328 D RGD:9068941 20200609 RGD PMID:10451498|REF_RGD_ID:10043817 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9004009 Reperfusion Injury ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16968891 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9004240 Phyllodes Tumor severity ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:17090194|REF_RGD_ID:2289654 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9004464 Skin Neoplasms ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:9264409|REF_RGD_ID:8662813 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9004484 Sepsis ISO RGD:69328 D RGD:9068941 20200609 RGD PMID:10451498|REF_RGD_ID:10043817 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9004547 Thyroid Neoplasms ISO RGD:69328 D RGD:9068941 20200609 RGD protein:decreased expression:thyroid gland PMID:23890812|REF_RGD_ID:13792775 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9004994 Embryo Loss ISO RGD:735341 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038060 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9005172 Lung Neoplasms ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12466968|PMID:18508827 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69328 D RGD:9068941 20200609 RGD protein:increased expression:testes: PMID:24828139|REF_RGD_ID:8662307 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9005873 Tongue Neoplasms disease_progression ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:11488071|REF_RGD_ID:8662423 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9007170 Bowen's Disease ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:10583111|REF_RGD_ID:8662826 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9007188 Liver Neoplasms ISO RGD:735341 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9007400 Lip Neoplasms ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:17238970|REF_RGD_ID:8662391 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9007479 Habitual Abortions ISO RGD:735341 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038060 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9007480 Hyperoxia ISO RGD:69328 D RGD:9068941 20200609 RGD PMID:18082050|REF_RGD_ID:2289663 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9007480 Hyperoxia ISO RGD:732911 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:9476904|REF_RGD_ID:10043823 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:69328 D RGD:9068941 20200609 RGD PMID:10451498|REF_RGD_ID:10043817 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9007715 Endometrial Neoplasms ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:16837908|REF_RGD_ID:2289683 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9007715 Endometrial Neoplasms susceptibility ISO RGD:735341 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.S31R PMID:15099969|REF_RGD_ID:2296047 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9007964 Arsenic Poisoning ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:11860939|REF_RGD_ID:8662429 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9008824 Sarcopenia treatment ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:20022929|REF_RGD_ID:10043356 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9008939 Breast Neoplasms ISO RGD:735341 D RGD:9068941 20200609 RGD DNA:snp: :rs3176336 PMID:18174243|REF_RGD_ID:2289652 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:16537179|REF_RGD_ID:2289656 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9074 systemic lupus erythematosus ISO RGD:732911 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:916 liver benign neoplasm ISO RGD:69328 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:23890812|REF_RGD_ID:13792775 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9206 Barrett's esophagus ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:nucleus of esophagus mucosa: PMID:11753681|REF_RGD_ID:8662398 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9282 ocular hypertension ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:14985792|REF_RGD_ID:8661805 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9655 oral mucosa leukoplakia ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:10873097|REF_RGD_ID:8662371 11866086 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9655 oral mucosa leukoplakia susceptibility ISO RGD:735341 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:149A>G(human) PMID:10873097|REF_RGD_ID:8662371 11866097 AP2M1 adaptor related protein complex 2 subunit mu 1 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1350921 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11866097 AP2M1 adaptor related protein complex 2 subunit mu 1 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1350921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11866097 AP2M1 adaptor related protein complex 2 subunit mu 1 gene DOID:0111546 Currarino syndrome ISO RGD:1350921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11866097 AP2M1 adaptor related protein complex 2 subunit mu 1 gene DOID:12849 autistic disorder ISO RGD:1350921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868|PMID:28492532|PMID:31104773 11866097 AP2M1 adaptor related protein complex 2 subunit mu 1 gene DOID:630 genetic disease ISO RGD:1350921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11866097 AP2M1 adaptor related protein complex 2 subunit mu 1 gene DOID:9000911 Autosomal Dominant Intellectual Developmental Disorder 60 ISO RGD:1350921 D RGD:7240710 20191002 OMIM 11866097 AP2M1 adaptor related protein complex 2 subunit mu 1 gene DOID:9000911 Autosomal Dominant Intellectual Developmental Disorder 60 ISO RGD:1350921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder 60 with seizures PMID:25741868|PMID:28492532|PMID:31104773 11866097 AP2M1 adaptor related protein complex 2 subunit mu 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11866114 MED12L mediator complex subunit 12L gene DOID:0050579 glycogen storage disease XV ISO RGD:1352033 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 11866114 MED12L mediator complex subunit 12L gene DOID:0060692 platelet-type bleeding disorder 8 ISO RGD:1352033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation | ClinVar Annotator: match by term: Platelet-type bleeding disorder 8 PMID:11196645|PMID:12578987|PMID:20966167|PMID:25741868|PMID:28492532|PMID:29117459|PMID:31064749|PMID:32100410|PMID:7706468 11866114 MED12L mediator complex subunit 12L gene DOID:1059 intellectual disability ISO RGD:1352033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31155615 11866114 MED12L mediator complex subunit 12L gene DOID:2213 hemorrhagic disease ISO RGD:1352033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 11866114 MED12L mediator complex subunit 12L gene DOID:630 genetic disease ISO RGD:1352033 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11866114 MED12L mediator complex subunit 12L gene DOID:9000668 Nizon-Isidor Syndrome ISO RGD:1352033 D RGD:7240710 20200617 OMIM 11866114 MED12L mediator complex subunit 12L gene DOID:9000668 Nizon-Isidor Syndrome ISO RGD:1352033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nizon-Isidor syndrome PMID:25741868|PMID:31155615 11866114 MED12L mediator complex subunit 12L gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11866114 MED12L mediator complex subunit 12L gene DOID:9008582 Developmental Disease ISO RGD:1352033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11866175 SNAI2 snail family transcriptional repressor 2 gene DOID:0110952 Waardenburg syndrome type 2D ISO RGD:735659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 2D PMID:12444107 11866175 SNAI2 snail family transcriptional repressor 2 gene DOID:0111961 immunodeficiency 26 ISO RGD:735659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency PMID:28492532 11866175 SNAI2 snail family transcriptional repressor 2 gene DOID:182 calcinosis ISO RGD:735659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29358327 11866175 SNAI2 snail family transcriptional repressor 2 gene DOID:3263 piebaldism ISO RGD:735659 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Partial albinism PMID:12955764|PMID:24033266|PMID:28492532|PMID:30936914|PMID:32975012 11866175 SNAI2 snail family transcriptional repressor 2 gene DOID:3263 piebaldism susceptibility ISO RGD:735659 D RGD:9068941 20200609 RGD DNA:deletions PMID:12444107|REF_RGD_ID:1600041 11866175 SNAI2 snail family transcriptional repressor 2 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:735659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 11866175 SNAI2 snail family transcriptional repressor 2 gene DOID:630 genetic disease ISO RGD:735659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11866175 SNAI2 snail family transcriptional repressor 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:735659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17068819 11866175 SNAI2 snail family transcriptional repressor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22580338 11866175 SNAI2 snail family transcriptional repressor 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22580338 11866175 SNAI2 snail family transcriptional repressor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:735659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11850205 11866182 TERF2 telomeric repeat binding factor 2 gene DOID:0050427 xeroderma pigmentosum ISO RGD:1322036 D RGD:9068941 20220825 MouseDO 11866182 TERF2 telomeric repeat binding factor 2 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1322035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17643074 11866182 TERF2 telomeric repeat binding factor 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1322035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11866182 TERF2 telomeric repeat binding factor 2 gene DOID:630 genetic disease ISO RGD:1322035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11866196 DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1316654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11866196 DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1316654 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11866196 DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:0080942 anauxetic dysplasia ISO RGD:1316654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11866196 DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1316654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11866196 DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1316654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11866196 DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:423 myopathy ISO RGD:1316654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal myopathy PMID:23806086|PMID:24088041|PMID:26257172 11866196 DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:630 genetic disease ISO RGD:1316654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11866196 DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1316654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11866196 DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11866196 DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:9870 galactosemia ISO RGD:1316654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11866215 NEK4 NIMA related kinase 4 gene DOID:0060340 ciliopathy ISO RGD:1312757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ciliopathy 11866215 NEK4 NIMA related kinase 4 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1312757 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 11866215 NEK4 NIMA related kinase 4 gene DOID:630 genetic disease ISO RGD:1312757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11866254 PGLYRP1 peptidoglycan recognition protein 1 gene DOID:630 genetic disease ISO RGD:1351704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11866254 PGLYRP1 peptidoglycan recognition protein 1 gene DOID:9000998 Brain Injuries ISO RGD:1351704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 11866261 PABPC1L poly(A) binding protein cytoplasmic 1 like gene DOID:2234 focal epilepsy ISO RGD:1346773 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11866261 PABPC1L poly(A) binding protein cytoplasmic 1 like gene DOID:630 genetic disease ISO RGD:1346773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11866261 PABPC1L poly(A) binding protein cytoplasmic 1 like gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1346773 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11866261 PABPC1L poly(A) binding protein cytoplasmic 1 like gene DOID:9006513 Oocyte Maturation Defect 1 ISO RGD:1346773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 1 11866311 C5H5orf15 chromosome 5 C5orf15 homolog gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321206 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11866311 C5H5orf15 chromosome 5 C5orf15 homolog gene DOID:630 genetic disease ISO RGD:1321206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11866311 C5H5orf15 chromosome 5 C5orf15 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11866311 C5H5orf15 chromosome 5 C5orf15 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321206 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11866318 ZNF248 zinc finger protein 248 gene DOID:630 genetic disease ISO RGD:1349221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11866356 UNG uracil DNA glycosylase gene DOID:0060759 immunodeficiency with hyper IgM type 5 ISO RGD:1316252 D RGD:7240710 20180725 OMIM 11866356 UNG uracil DNA glycosylase gene DOID:0060759 immunodeficiency with hyper IgM type 5 ISO RGD:1316252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 5 PMID:12958596|PMID:15967827|PMID:16199547|PMID:17029639|PMID:17576681|PMID:21167187|PMID:22252118|PMID:22521144|PMID:23545420|PMID:25741868|PMID:28492532|PMID:29546359|PMID:9536098 11866356 UNG uracil DNA glycosylase gene DOID:0080544 hyper IgM syndrome ISO RGD:1316252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11866356 UNG uracil DNA glycosylase gene DOID:11702 dysgammaglobulinemia ISO RGD:1316252 D RGD:9068941 20200609 RGD Hyper-IgM syndrome 5, OMIM:608106 PMID:12958596|REF_RGD_ID:1599705 11866356 UNG uracil DNA glycosylase gene DOID:2717 Bloom syndrome ISO RGD:1316252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2106500 11866356 UNG uracil DNA glycosylase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11866356 UNG uracil DNA glycosylase gene DOID:630 genetic disease ISO RGD:1316252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11866356 UNG uracil DNA glycosylase gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1316252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome 11866356 UNG uracil DNA glycosylase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:0050589 inflammatory bowel disease ISO RGD:736447 D RGD:9068941 20200609 RGD protein:increased expression PMID:21864296|REF_RGD_ID:5685671 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:0060478 Zika fever ISO RGD:10742 D RGD:9068941 20200702 RGD mRNA,protein:increased expression:brain PMID:30241539|REF_RGD_ID:32733625 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:0060496 respiratory allergy ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24211530 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:0070004 myeloid neoplasm ISO RGD:10742 D RGD:9068941 20200609 RGD PMID:21937694|REF_RGD_ID:11354915 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:0090145 dopamine beta-hydroxylase deficiency ISO RGD:736447 D RGD:9068941 20200609 RGD PMID:21209083|REF_RGD_ID:5685690 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:10320 asbestosis ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25324550 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:11832 visual epilepsy ISO RGD:2843 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus: PMID:25219120|REF_RGD_ID:11354919 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:10742 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:21094208|REF_RGD_ID:5686293 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:2055 post-traumatic stress disorder ISO RGD:2843 D RGD:9068941 20200609 RGD PMID:25331812|REF_RGD_ID:13782181 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2843 D RGD:9068941 20200609 RGD PMID:25632565|REF_RGD_ID:11354959 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:3070 high grade glioma ISO RGD:736447 D RGD:9068941 20200609 RGD protein:increased expression PMID:21112319|REF_RGD_ID:5685704 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:3770 pulmonary fibrosis ISO RGD:10742 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lungs PMID:22227563|REF_RGD_ID:5685632 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:5199 ureteral obstruction treatment ISO RGD:2843 D RGD:9068941 20200609 RGD PMID:25707520|REF_RGD_ID:13782175 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:5844 myocardial infarction ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25450231 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:630 genetic disease ISO RGD:736447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:684 hepatocellular carcinoma ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284|PMID:29698666 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:7148 rheumatoid arthritis ISO RGD:736447 D RGD:9068941 20200609 RGD protein:increased expression:synovial joint PMID:11315915|REF_RGD_ID:5685639 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:8552 chronic myeloid leukemia ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23777986 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9000039 Spinal Cord Injuries ISO RGD:10742 D RGD:9068941 20200609 RGD mRNA: increased expression PMID:21933012|REF_RGD_ID:5685666 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2843 D RGD:9068941 20200609 RGD mRNA:increased expression PMID:21940431|REF_RGD_ID:5685664 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9002138 Spinal Cord Reperfusion Injury treatment ISO RGD:2843 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord: PMID:24463125|REF_RGD_ID:11354961 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2843 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney PMID:19301230|REF_RGD_ID:2311449 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:2843 D RGD:9068941 20200609 RGD PMID:21927577|REF_RGD_ID:5685668 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9002955 Nerve Degeneration ISO RGD:2843 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:21436843|REF_RGD_ID:5685686 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9004009 Reperfusion Injury ISO RGD:2843 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, experimental (D003921): protein:increased expression:brain PMID:22075494|REF_RGD_ID:5685650 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2843 D RGD:9068941 20200709 RGD associated with Crush Injuries PMID:30465396|REF_RGD_ID:34901874 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9005666 Contrast-Induced Nephropathy treatment ISO RGD:2843 D RGD:9068941 20200609 RGD PMID:27781957|REF_RGD_ID:13782262 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9006532 Hematologic Neoplasms ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23777986 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:10742 D RGD:9068941 20230302 RGD PMID:36044268|REF_RGD_ID:156430337 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9007456 Female Infertility ISO RGD:736447 D RGD:9068941 20200609 RGD PMID:22143970|REF_RGD_ID:5685640 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:2843 D RGD:9068941 20200609 RGD protein:increased expression:neutrophil: PMID:26464680|REF_RGD_ID:11354914 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2843 D RGD:9068941 20200609 RGD PMID:24129401|PMID:25547710|REF_RGD_ID:11354962|REF_RGD_ID:13782178 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9008022 Temporomandibular Joint Osteoarthritis ISO RGD:2843 D RGD:9068941 20200709 RGD mRNA,protein:increased expression:chondrocyte PMID:31007149|REF_RGD_ID:34888237 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9008939 Breast Neoplasms ISO RGD:10742 D RGD:9068941 20200609 RGD protein:increased expression PMID:20957756|REF_RGD_ID:5686342 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9452 fatty liver disease ISO RGD:2843 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:liver: PMID:23647685|REF_RGD_ID:11354957 11866367 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9970 obesity ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26655953 11866379 ARL13A ADP ribosylation factor like GTPase 13A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11866379 ARL13A ADP ribosylation factor like GTPase 13A gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1343034 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 11866379 ARL13A ADP ribosylation factor like GTPase 13A gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1343034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 11866379 ARL13A ADP ribosylation factor like GTPase 13A gene DOID:12849 autistic disorder ISO RGD:1343034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11866379 ARL13A ADP ribosylation factor like GTPase 13A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11866379 ARL13A ADP ribosylation factor like GTPase 13A gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1343034 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 11866396 CARS1 cysteinyl-tRNA synthetase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1321833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11866396 CARS1 cysteinyl-tRNA synthetase 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1321833 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11866396 CARS1 cysteinyl-tRNA synthetase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1321833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11866396 CARS1 cysteinyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1321833 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11866396 CARS1 cysteinyl-tRNA synthetase 1 gene DOID:9006793 MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME ISO RGD:1321833 D RGD:7240710 20200805 OMIM 11866396 CARS1 cysteinyl-tRNA synthetase 1 gene DOID:9006793 MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME ISO RGD:1321833 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microcephaly, developmental delay, and brittle hair syndrome PMID:25741868|PMID:28492532|PMID:30824121 11866439 FOXP2 forkhead box P2 gene DOID:0060041 autism spectrum disorder ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :multiple PMID:24356376|REF_RGD_ID:11535982 11866439 FOXP2 forkhead box P2 gene DOID:0060041 autism spectrum disorder ISO RGD:1351861 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11866439 FOXP2 forkhead box P2 gene DOID:0060135 apraxia ISO RGD:1351861 D RGD:9068941 20221208 CTD CTD Direct Evidence: marker/mechanism PMID:17033973|PMID:27120335 11866439 FOXP2 forkhead box P2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1351861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11866439 FOXP2 forkhead box P2 gene DOID:0111275 speech-language disorder-1 ISO RGD:1351861 D RGD:7240710 20180130 OMIM 11866439 FOXP2 forkhead box P2 gene DOID:0111275 speech-language disorder-1 ISO RGD:1351861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Childhood apraxia of speech PMID:11586359|PMID:15877281|PMID:16470794|PMID:16984964|PMID:17033973|PMID:17330859|PMID:20858596|PMID:22105961|PMID:22106036|PMID:22144704|PMID:22434823|PMID:22766611|PMID:2332125|PMID:23918746|PMID:25232744|PMID:25741868|PMID:27336128|PMID:27572252|PMID:27933109|PMID:28492532|PMID:28708303 11866439 FOXP2 forkhead box P2 gene DOID:0111275 speech-language disorder-1 no_association ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.P215A (human) PMID:19352412|REF_RGD_ID:11536000 11866439 FOXP2 forkhead box P2 gene DOID:1059 intellectual disability ISO RGD:1351861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11866439 FOXP2 forkhead box P2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs1229761, rs12533005 (human) PMID:22504457|REF_RGD_ID:11535980 11866439 FOXP2 forkhead box P2 gene DOID:1094 attention deficit hyperactivity disorder no_association ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:22504457|REF_RGD_ID:11535980 11866439 FOXP2 forkhead box P2 gene DOID:12849 autistic disorder ISO RGD:1351861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108192|PMID:17033973 11866439 FOXP2 forkhead box P2 gene DOID:12849 autistic disorder ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNP:intron PMID:15737702|REF_RGD_ID:11535991 11866439 FOXP2 forkhead box P2 gene DOID:12849 autistic disorder ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype PMID:15108192|REF_RGD_ID:11535986 11866439 FOXP2 forkhead box P2 gene DOID:12849 autistic disorder no_association ISO RGD:1351861 D RGD:9068941 20200609 RGD PMID:15998549|REF_RGD_ID:11535984 11866439 FOXP2 forkhead box P2 gene DOID:12849 autistic disorder no_association ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple PMID:12655497|REF_RGD_ID:11535985 11866439 FOXP2 forkhead box P2 gene DOID:12849 autistic disorder no_association ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:repeat, deletion PMID:12116195|REF_RGD_ID:11536001 11866439 FOXP2 forkhead box P2 gene DOID:14681 Silver-Russell syndrome ISO RGD:1351861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17033973 11866439 FOXP2 forkhead box P2 gene DOID:1470 major depressive disorder ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNP: :rs10447760 (human) PMID:22404659|REF_RGD_ID:11535994 11866439 FOXP2 forkhead box P2 gene DOID:1470 major depressive disorder no_association ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:22404659|REF_RGD_ID:11535994 11866439 FOXP2 forkhead box P2 gene DOID:1749 squamous cell carcinoma ISO RGD:1351861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 11866439 FOXP2 forkhead box P2 gene DOID:3910 lung adenocarcinoma ISO RGD:1351861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 11866439 FOXP2 forkhead box P2 gene DOID:4186 articulation disorder ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:5' utr:rs1852469, rs2396722 (human) PMID:20923434|REF_RGD_ID:11535989 11866439 FOXP2 forkhead box P2 gene DOID:4186 articulation disorder no_association ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNPs::rs923875, rs17137124, rs1456031 (human) PMID:20923434|REF_RGD_ID:11535989 11866439 FOXP2 forkhead box P2 gene DOID:4428 dyslexia ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNP: :rs12533005 (human) PMID:21897444|REF_RGD_ID:11535997 11866439 FOXP2 forkhead box P2 gene DOID:4428 dyslexia no_association ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:21897444|REF_RGD_ID:11535997 11866439 FOXP2 forkhead box P2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11866439 FOXP2 forkhead box P2 gene DOID:5419 schizophrenia ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNP: :rs10447760 (human) PMID:22404659|REF_RGD_ID:11535994 11866439 FOXP2 forkhead box P2 gene DOID:5419 schizophrenia ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :multiple PMID:16538183|REF_RGD_ID:11535988 11866439 FOXP2 forkhead box P2 gene DOID:5419 schizophrenia no_association ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:22404659|REF_RGD_ID:11535994 11866439 FOXP2 forkhead box P2 gene DOID:630 genetic disease ISO RGD:1351861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15877281|PMID:16984964|PMID:22434823|PMID:25232744|PMID:25741868|PMID:27336128|PMID:27572252|PMID:27933109|PMID:28492532 11866439 FOXP2 forkhead box P2 gene DOID:9001488 Human Influenza ISO RGD:1615752 D RGD:9068941 20200609 RGD PMID:18248790|REF_RGD_ID:11536002 11866439 FOXP2 forkhead box P2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11866439 FOXP2 forkhead box P2 gene DOID:9005466 Language Development Disorders ISO RGD:1351861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27120335 11866439 FOXP2 forkhead box P2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1351861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17033973 11866439 FOXP2 forkhead box P2 gene DOID:93 language disorder ISO RGD:1351861 D RGD:9068941 20200609 RGD associated with Schizophrenia;DNA:SNP: :rs2253478 (human) PMID:20649982|REF_RGD_ID:11535993 11866459 ZNF74 zinc finger protein 74 gene DOID:0060041 autism spectrum disorder ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11866459 ZNF74 zinc finger protein 74 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1353341 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 11866459 ZNF74 zinc finger protein 74 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1353341 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 11866459 ZNF74 zinc finger protein 74 gene DOID:1059 intellectual disability ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11866459 ZNF74 zinc finger protein 74 gene DOID:11198 DiGeorge syndrome ISO RGD:1353341 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 11866459 ZNF74 zinc finger protein 74 gene DOID:11372 megacolon ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11866459 ZNF74 zinc finger protein 74 gene DOID:12583 velocardiofacial syndrome ISO RGD:1353341 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 11866459 ZNF74 zinc finger protein 74 gene DOID:12849 autistic disorder ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11866459 ZNF74 zinc finger protein 74 gene DOID:1826 epilepsy ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11866459 ZNF74 zinc finger protein 74 gene DOID:2213 hemorrhagic disease ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 11866459 ZNF74 zinc finger protein 74 gene DOID:5419 schizophrenia ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11866459 ZNF74 zinc finger protein 74 gene DOID:612 primary immunodeficiency disease ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11866459 ZNF74 zinc finger protein 74 gene DOID:630 genetic disease ISO RGD:1353341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11866459 ZNF74 zinc finger protein 74 gene DOID:9003871 Venous Thrombosis ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 11866459 ZNF74 zinc finger protein 74 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11866459 ZNF74 zinc finger protein 74 gene DOID:9007661 Dwarfism ISO RGD:1353341 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11866474 FUNDC2 FUN14 domain containing 2 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1351400 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11866474 FUNDC2 FUN14 domain containing 2 gene DOID:0050476 Barth syndrome ISO RGD:1351400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11866474 FUNDC2 FUN14 domain containing 2 gene DOID:0050800 creatine transporter deficiency ISO RGD:1351400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11866474 FUNDC2 FUN14 domain containing 2 gene DOID:0112003 immunodeficiency 33 ISO RGD:1351400 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11866474 FUNDC2 FUN14 domain containing 2 gene DOID:10588 adrenoleukodystrophy ISO RGD:1351400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11866474 FUNDC2 FUN14 domain containing 2 gene DOID:11372 megacolon ISO RGD:1351400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11866474 FUNDC2 FUN14 domain containing 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1351400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11866474 FUNDC2 FUN14 domain containing 2 gene DOID:12134 factor VIII deficiency ISO RGD:1351400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar Annotator: match by term: Hemophilia A PMID:2105106|PMID:2563431 11866474 FUNDC2 FUN14 domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1351400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11866474 FUNDC2 FUN14 domain containing 2 gene DOID:13628 favism ISO RGD:1351400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11866474 FUNDC2 FUN14 domain containing 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1351400 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11866474 FUNDC2 FUN14 domain containing 2 gene DOID:607 paraplegia ISO RGD:1351400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11866474 FUNDC2 FUN14 domain containing 2 gene DOID:630 genetic disease ISO RGD:1351400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11866474 FUNDC2 FUN14 domain containing 2 gene DOID:9002720 Splenomegaly ISO RGD:1351400 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11866483 PDLIM4 PDZ and LIM domain 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353458 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11866483 PDLIM4 PDZ and LIM domain 4 gene DOID:11476 osteoporosis ISO RGD:1353458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 15 PMID:12908099 11866483 PDLIM4 PDZ and LIM domain 4 gene DOID:11476 osteoporosis susceptibility ISO RGD:1353458 D RGD:7240710 20230505 OMIM 11866483 PDLIM4 PDZ and LIM domain 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:1353458 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11866483 PDLIM4 PDZ and LIM domain 4 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1353458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:20574985|PMID:28492532 11866483 PDLIM4 PDZ and LIM domain 4 gene DOID:630 genetic disease ISO RGD:1353458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11866483 PDLIM4 PDZ and LIM domain 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11866483 PDLIM4 PDZ and LIM domain 4 gene DOID:9005172 Lung Neoplasms ISO RGD:1353458 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 11866483 PDLIM4 PDZ and LIM domain 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353458 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11866498 LOC100995882 tubulin alpha-4A chain gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:1344170 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 PMID:25741868 11866498 LOC100995882 tubulin alpha-4A chain gene DOID:0060355 amyotrophic lateral sclerosis type 22 ISO RGD:1344170 D RGD:7240710 20180130 OMIM 11866498 LOC100995882 tubulin alpha-4A chain gene DOID:0060355 amyotrophic lateral sclerosis type 22 ISO RGD:1344170 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 22 with frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 22 PMID:25374358|PMID:25741868 11866498 LOC100995882 tubulin alpha-4A chain gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1344170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11866498 LOC100995882 tubulin alpha-4A chain gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1344170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11866498 LOC100995882 tubulin alpha-4A chain gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1344170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11866498 LOC100995882 tubulin alpha-4A chain gene DOID:1148 polydactyly ISO RGD:1344170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 11866498 LOC100995882 tubulin alpha-4A chain gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1344170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 11866498 LOC100995882 tubulin alpha-4A chain gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1344170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11866498 LOC100995882 tubulin alpha-4A chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11866533 TMEM203 transmembrane protein 203 gene DOID:0050777 Joubert syndrome ISO RGD:1605598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11866533 TMEM203 transmembrane protein 203 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1605598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 11866533 TMEM203 transmembrane protein 203 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1605598 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 11866533 TMEM203 transmembrane protein 203 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1605598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11866533 TMEM203 transmembrane protein 203 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1605598 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11866533 TMEM203 transmembrane protein 203 gene DOID:0081097 Rafiq syndrome ISO RGD:1605598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11866533 TMEM203 transmembrane protein 203 gene DOID:1826 epilepsy ISO RGD:1605598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11866533 TMEM203 transmembrane protein 203 gene DOID:630 genetic disease ISO RGD:1605598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11866533 TMEM203 transmembrane protein 203 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1605598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11866538 C11H11orf52 chromosome 11 C11orf52 homolog gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1604761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 11866538 C11H11orf52 chromosome 11 C11orf52 homolog gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:1604761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:25966638|PMID:28492532 11866538 C11H11orf52 chromosome 11 C11orf52 homolog gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1604761 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 11866538 C11H11orf52 chromosome 11 C11orf52 homolog gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:1604761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:28492532 11866538 C11H11orf52 chromosome 11 C11orf52 homolog gene DOID:1059 intellectual disability ISO RGD:1604761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11866538 C11H11orf52 chromosome 11 C11orf52 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1604761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11866538 C11H11orf52 chromosome 11 C11orf52 homolog gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11866538 C11H11orf52 chromosome 11 C11orf52 homolog gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1604761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 11866601 ZNF70 zinc finger protein 70 gene DOID:0081135 agammaglobulinemia 2 ISO RGD:1351626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 11866601 ZNF70 zinc finger protein 70 gene DOID:1826 epilepsy ISO RGD:1351626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11866601 ZNF70 zinc finger protein 70 gene DOID:5419 schizophrenia ISO RGD:1351626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11866601 ZNF70 zinc finger protein 70 gene DOID:630 genetic disease ISO RGD:1351626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11866607 CDX4 caudal type homeobox 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11866607 CDX4 caudal type homeobox 4 gene DOID:12849 autistic disorder ISO RGD:1351181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11866607 CDX4 caudal type homeobox 4 gene DOID:630 genetic disease ISO RGD:1351181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11866614 LOC100983071 ubiquinol-cytochrome-c reductase complex assembly factor 1 gene DOID:630 genetic disease ISO RGD:1345532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11866633 CFAP251 cilia and flagella associated protein 251 gene DOID:0070165 spermatogenic failure 18 ISO RGD:1606715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 18 PMID:30122540 11866633 CFAP251 cilia and flagella associated protein 251 gene DOID:0111915 spermatogenic failure 33 ISO RGD:1606715 D RGD:7240710 20190315 OMIM 11866633 CFAP251 cilia and flagella associated protein 251 gene DOID:0111915 spermatogenic failure 33 ISO RGD:1606715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 33 PMID:30122540|PMID:30122541 11866633 CFAP251 cilia and flagella associated protein 251 gene DOID:630 genetic disease ISO RGD:1606715 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11866633 CFAP251 cilia and flagella associated protein 251 gene DOID:9001513 Asthenozoospermia ISO RGD:1606715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: asthenozoospermia PMID:30122541 11866688 CDK5RAP1 CDK5 regulatory subunit associated protein 1 gene DOID:630 genetic disease ISO RGD:1602114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11866719 LOC100995352 keratin-associated protein 10-2 gene DOID:0060019 coronin-1A deficiency ISO RGD:735815 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:18836449|PMID:25073507|PMID:28492532 11866719 LOC100995352 keratin-associated protein 10-2 gene DOID:0060041 autism spectrum disorder ISO RGD:735815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 11866719 LOC100995352 keratin-associated protein 10-2 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:735815 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome 11866719 LOC100995352 keratin-associated protein 10-2 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:735815 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 11866719 LOC100995352 keratin-associated protein 10-2 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:735815 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:25741868 11866719 LOC100995352 keratin-associated protein 10-2 gene DOID:12849 autistic disorder ISO RGD:735815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11866719 LOC100995352 keratin-associated protein 10-2 gene DOID:1882 atrial heart septal defect ISO RGD:735815 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 11866719 LOC100995352 keratin-associated protein 10-2 gene DOID:2634 cystadenoma ISO RGD:735815 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19077459|REF_RGD_ID:2325696 11866719 LOC100995352 keratin-associated protein 10-2 gene DOID:5419 schizophrenia ISO RGD:735815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11866719 LOC100995352 keratin-associated protein 10-2 gene DOID:630 genetic disease ISO RGD:735815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11866719 LOC100995352 keratin-associated protein 10-2 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:735815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOGEN STORAGE DISEASE XII | ClinVar Annotator: match by term: GSD XII | ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:17576681|PMID:25741868|PMID:2825199|PMID:28492532|PMID:8598869|PMID:9536098 11866719 LOC100995352 keratin-associated protein 10-2 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:735815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome 11866719 LOC100995352 keratin-associated protein 10-2 gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:10139 D RGD:9068941 20200609 RGD PMID:25637246|REF_RGD_ID:13673876 11866778 BPIFA2 BPI fold containing family A member 2 gene DOID:303 substance-related disorder ISO RGD:1351299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11866778 BPIFA2 BPI fold containing family A member 2 gene DOID:630 genetic disease ISO RGD:1351299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11866796 SFMBT2 Scm like with four mbt domains 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1312812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11866796 SFMBT2 Scm like with four mbt domains 2 gene DOID:630 genetic disease ISO RGD:1312812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11866825 PIERCE1 piercer of microtubule wall 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1353369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 11866825 PIERCE1 piercer of microtubule wall 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1353369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11866825 PIERCE1 piercer of microtubule wall 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1353369 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11866825 PIERCE1 piercer of microtubule wall 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11866825 PIERCE1 piercer of microtubule wall 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1353369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11866825 PIERCE1 piercer of microtubule wall 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1353369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 11866825 PIERCE1 piercer of microtubule wall 1 gene DOID:3652 Leigh disease ISO RGD:1353369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11866825 PIERCE1 piercer of microtubule wall 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1353369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:28492532|PMID:29907982 11866835 SPECC1 sperm antigen with calponin homology and coiled-coil domains 1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1606479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 11866835 SPECC1 sperm antigen with calponin homology and coiled-coil domains 1 gene DOID:12849 autistic disorder ISO RGD:1606479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11866835 SPECC1 sperm antigen with calponin homology and coiled-coil domains 1 gene DOID:2661 myoepithelioma ISO RGD:1606479 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11866835 SPECC1 sperm antigen with calponin homology and coiled-coil domains 1 gene DOID:630 genetic disease ISO RGD:1606479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11866835 SPECC1 sperm antigen with calponin homology and coiled-coil domains 1 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1606479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 11866882 INHA inhibin subunit alpha gene DOID:0111545 familial male-limited precocious puberty ISO RGD:736727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16684832 11866882 INHA inhibin subunit alpha gene DOID:10283 prostate cancer ISO RGD:736727 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:malignant tumors PMID:9506758|REF_RGD_ID:2290384 11866882 INHA inhibin subunit alpha gene DOID:10286 prostate carcinoma ISO RGD:736727 D RGD:9068941 20200609 RGD DNA:hypermethylation,loss of heterozygosity:promoter,genomic region:significant hypermethylation (P<0.001) in tumors vs nonmalignant controls, LOH at 2q32-36 in 42% of cases PMID:11818495|REF_RGD_ID:2290381 11866882 INHA inhibin subunit alpha gene DOID:1148 polydactyly ISO RGD:736727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 11866882 INHA inhibin subunit alpha gene DOID:192 sex cord-gonadal stromal tumor susceptibility ISO RGD:10808 D RGD:9068941 20200609 RGD PMID:8090730|REF_RGD_ID:2301690 11866882 INHA inhibin subunit alpha gene DOID:2696 Leydig cell tumor ISO RGD:2912 D RGD:9068941 20200609 RGD protein:increased expression:plasma, testis:observed in aged male Tig:Wistar rats PMID:11545298|REF_RGD_ID:2290379 11866882 INHA inhibin subunit alpha gene DOID:2997 Sertoli-Leydig cell tumor ISO RGD:736727 D RGD:9068941 20200609 RGD protein:increased expression:tumor:focal expression in Sertoli cells, stronger diffuse expression in Leydig cells PMID:17414107|REF_RGD_ID:2290367 11866882 INHA inhibin subunit alpha gene DOID:3008 invasive ductal carcinoma ISO RGD:736727 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:significantly lower in invasive, infiltrating and metastatic tumors than in ductal carcinoma in situ tumors PMID:15583806|REF_RGD_ID:2290390 11866882 INHA inhibin subunit alpha gene DOID:3308 embryonal carcinoma ISO RGD:736727 D RGD:9068941 20200609 RGD protein:increased expression:tumor PMID:11720904|REF_RGD_ID:2290380 11866882 INHA inhibin subunit alpha gene DOID:3577 Sertoli cell tumor ISO RGD:10808 D RGD:9068941 20200609 RGD reexpression in tumor derived cells eliminates the transformed phenotype PMID:10602485|REF_RGD_ID:2290369 11866882 INHA inhibin subunit alpha gene DOID:4440 seminoma ISO RGD:736727 D RGD:9068941 20200609 RGD protein:increased expression:tumor PMID:11720904|REF_RGD_ID:2290380 11866882 INHA inhibin subunit alpha gene DOID:4441 dysgerminoma ISO RGD:736727 D RGD:9068941 20200609 RGD protein:increased expression:tumor PMID:11720904|REF_RGD_ID:2290380 11866882 INHA inhibin subunit alpha gene DOID:5426 primary ovarian insufficiency ISO RGD:736727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:24033266|PMID:25741868 11866882 INHA inhibin subunit alpha gene DOID:630 genetic disease ISO RGD:736727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11866882 INHA inhibin subunit alpha gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:736727 D RGD:9068941 20200609 RGD DNA:SNP PMID:18413775|REF_RGD_ID:2301687 11866882 INHA inhibin subunit alpha gene DOID:9001205 Experimental Autoimmune Orchitis ISO RGD:2912 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:11431143|REF_RGD_ID:8694089 11866882 INHA inhibin subunit alpha gene DOID:9002762 Ovarian Neoplasms ISO RGD:736727 D RGD:9068941 20200609 RGD protein:increased expression:tumors PMID:10435065|REF_RGD_ID:2290383 11866882 INHA inhibin subunit alpha gene DOID:9003281 Spontaneous Abortions ISO RGD:736727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11866882 INHA inhibin subunit alpha gene DOID:9004265 Endometrioid Carcinomas ISO RGD:736727 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:significantly higher in normal compared to malignant tissue PMID:17143484|REF_RGD_ID:2290368 11866882 INHA inhibin subunit alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11866882 INHA inhibin subunit alpha gene DOID:9007715 Endometrial Neoplasms ISO RGD:736727 D RGD:9068941 20200609 RGD mRNA:decreased expression:endometrium PMID:15745937|REF_RGD_ID:1579943 11866888 KRT82 keratin 82 gene DOID:630 genetic disease ISO RGD:1350237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11866906 SLC38A1 solute carrier family 38 member 1 gene DOID:11832 visual epilepsy ISO RGD:69645 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:21138736|REF_RGD_ID:9999229 11866906 SLC38A1 solute carrier family 38 member 1 gene DOID:630 genetic disease ISO RGD:735316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11866906 SLC38A1 solute carrier family 38 member 1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:735316 D RGD:9068941 20220224 RGD PMID:26389641|REF_RGD_ID:151361140 11866906 SLC38A1 solute carrier family 38 member 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735316 D RGD:9068941 20220224 RGD PMID:26389641|REF_RGD_ID:151361140 11866937 CLMP CXADR like membrane protein gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1602686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intestinal pseudo-obstruction PMID:18209785|PMID:22155368|PMID:25741868|PMID:27352967|PMID:28708303 11866937 CLMP CXADR like membrane protein gene DOID:10605 short bowel syndrome ISO RGD:1602686 D RGD:7240710 20220316 OMIM 11866937 CLMP CXADR like membrane protein gene DOID:10605 short bowel syndrome ISO RGD:1602686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital short bowel syndrome 1 PMID:16707984|PMID:18209785|PMID:22155368|PMID:25741868|PMID:27352967|PMID:28708303 11866937 CLMP CXADR like membrane protein gene DOID:5419 schizophrenia ISO RGD:1602686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11866937 CLMP CXADR like membrane protein gene DOID:630 genetic disease ISO RGD:1602686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11866937 CLMP CXADR like membrane protein gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1602686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11866937 CLMP CXADR like membrane protein gene DOID:9007661 Dwarfism ISO RGD:1602686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11866949 DCLK3 doublecortin like kinase 3 gene DOID:630 genetic disease ISO RGD:1352758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11866958 SAP18 Sin3A associated protein 18 gene DOID:630 genetic disease ISO RGD:1321265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11866969 ZNRF1 zinc and ring finger 1 gene DOID:2565 macular corneal dystrophy ISO RGD:1349961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 11866969 ZNRF1 zinc and ring finger 1 gene DOID:607 paraplegia ISO RGD:1349961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11866969 ZNRF1 zinc and ring finger 1 gene DOID:630 genetic disease ISO RGD:1349961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11866969 ZNRF1 zinc and ring finger 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11866989 IFT81 intraflagellar transport 81 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1606304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868|PMID:26275418|PMID:27666822|PMID:28492532 11866989 IFT81 intraflagellar transport 81 gene DOID:0060340 ciliopathy ISO RGD:1606304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ciliopathy PMID:26275418|PMID:28492532 11866989 IFT81 intraflagellar transport 81 gene DOID:0080295 short-rib thoracic dysplasia 19 with or without polydactyly ISO RGD:1606304 D RGD:7240710 20190315 OMIM 11866989 IFT81 intraflagellar transport 81 gene DOID:0080295 short-rib thoracic dysplasia 19 with or without polydactyly ISO RGD:1606304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 19 with or without polydactyly PMID:25741868|PMID:26275418|PMID:27666822|PMID:28492532 11866989 IFT81 intraflagellar transport 81 gene DOID:630 genetic disease ISO RGD:1606304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11866989 IFT81 intraflagellar transport 81 gene DOID:9007661 Dwarfism ISO RGD:1606304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:28492532 11867023 GAB2 GRB2 associated binding protein 2 gene DOID:1059 intellectual disability ISO RGD:737428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11867023 GAB2 GRB2 associated binding protein 2 gene DOID:1909 melanoma ISO RGD:737428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11867023 GAB2 GRB2 associated binding protein 2 gene DOID:630 genetic disease ISO RGD:737428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867023 GAB2 GRB2 associated binding protein 2 gene DOID:8552 chronic myeloid leukemia disease_progression ISO RGD:737428 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow PMID:22858987|REF_RGD_ID:13699433 11867023 GAB2 GRB2 associated binding protein 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21996746 11867023 GAB2 GRB2 associated binding protein 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21996746 11867037 ASH1L ASH1 like histone lysine methyltransferase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1314918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11867037 ASH1L ASH1 like histone lysine methyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:1314918 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11867037 ASH1L ASH1 like histone lysine methyltransferase gene DOID:0080231 autosomal dominant intellectual developmental disorder 52 ISO RGD:1314918 D RGD:7240710 20190315 OMIM 11867037 ASH1L ASH1 like histone lysine methyltransferase gene DOID:0080231 autosomal dominant intellectual developmental disorder 52 ISO RGD:1314918 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ASH1L-Related Disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 52 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 52 PMID:23033978|PMID:25363760|PMID:25741868|PMID:25961944|PMID:27824329|PMID:28191889|PMID:28394464|PMID:28492532|PMID:29276005 11867037 ASH1L ASH1 like histone lysine methyltransferase gene DOID:0111940 immunodeficiency 42 ISO RGD:1314918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11867037 ASH1L ASH1 like histone lysine methyltransferase gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11867037 ASH1L ASH1 like histone lysine methyltransferase gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314918 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11867037 ASH1L ASH1 like histone lysine methyltransferase gene DOID:1059 intellectual disability ISO RGD:1314918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11867037 ASH1L ASH1 like histone lysine methyltransferase gene DOID:1540 parathyroid carcinoma ISO RGD:1314918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11867037 ASH1L ASH1 like histone lysine methyltransferase gene DOID:1826 epilepsy ISO RGD:1314918 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11867037 ASH1L ASH1 like histone lysine methyltransferase gene DOID:5812 MHC class II deficiency ISO RGD:1314918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11867037 ASH1L ASH1 like histone lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1314918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30564305 11867037 ASH1L ASH1 like histone lysine methyltransferase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 11867037 ASH1L ASH1 like histone lysine methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 11867037 ASH1L ASH1 like histone lysine methyltransferase gene DOID:9007188 Liver Neoplasms ISO RGD:1314918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27064257 11867037 ASH1L ASH1 like histone lysine methyltransferase gene DOID:9008086 Developmental Disabilities ISO RGD:1314918 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11867037 ASH1L ASH1 like histone lysine methyltransferase gene DOID:9008582 Developmental Disease ISO RGD:1314918 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11867037 ASH1L ASH1 like histone lysine methyltransferase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11867070 DYNC1LI1 dynein cytoplasmic 1 light intermediate chain 1 gene DOID:630 genetic disease ISO RGD:1606006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867087 PSMD10 proteasome 26S subunit, non-ATPase 10 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:736379 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 11867087 PSMD10 proteasome 26S subunit, non-ATPase 10 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11867087 PSMD10 proteasome 26S subunit, non-ATPase 10 gene DOID:12849 autistic disorder ISO RGD:736379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11867087 PSMD10 proteasome 26S subunit, non-ATPase 10 gene DOID:630 genetic disease ISO RGD:736379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867100 SH3GLB1 SH3 domain containing GRB2 like, endophilin B1 gene DOID:630 genetic disease ISO RGD:1312539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867123 INTS14 integrator complex subunit 14 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1604589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11867123 INTS14 integrator complex subunit 14 gene DOID:2717 Bloom syndrome ISO RGD:1604589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11867123 INTS14 integrator complex subunit 14 gene DOID:630 genetic disease ISO RGD:1604589 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867123 INTS14 integrator complex subunit 14 gene DOID:9256 colorectal cancer ISO RGD:1604589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11867165 PAK1IP1 PAK1 interacting protein 1 gene DOID:0110242 cataract 13 with adult i phenotype ISO RGD:1353310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 13 with adult I phenotype PMID:28492532 11867165 PAK1IP1 PAK1 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1353310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867185 TBC1D2B TBC1 domain family member 2B gene DOID:2717 Bloom syndrome ISO RGD:1604393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11867185 TBC1D2B TBC1 domain family member 2B gene DOID:630 genetic disease ISO RGD:1604393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867185 TBC1D2B TBC1 domain family member 2B gene DOID:9002993 NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH ISO RGD:1604393 D RGD:7240710 20210818 OMIM 11867185 TBC1D2B TBC1 domain family member 2B gene DOID:9002993 NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH ISO RGD:1604393 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and gingival overgrowth PMID:25741868|PMID:32623794 11867185 TBC1D2B TBC1 domain family member 2B gene DOID:9256 colorectal cancer ISO RGD:1604393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11867202 ART1 ADP-ribosyltransferase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11867202 ART1 ADP-ribosyltransferase 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1312119 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11867202 ART1 ADP-ribosyltransferase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11867202 ART1 ADP-ribosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1312119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867216 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1346613 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11867216 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1346613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11867216 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1346613 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:28774887|REF_RGD_ID:15045601 11867216 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1346613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11867216 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1346613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11867216 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:1059 intellectual disability ISO RGD:1346613 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10775536|PMID:11181744|PMID:12933951|PMID:14741198|PMID:16157755|PMID:16278884|PMID:16816916|PMID:17697869|PMID:18227423|PMID:19092443|PMID:2019602|PMID:20402754|PMID:21073839|PMID:21645175|PMID:21955034|PMID:21958693|PMID:22878431|PMID:24002088|PMID:24033266|PMID:24584636|PMID:24746394|PMID:25447658|PMID:25741868|PMID:25862734|PMID:25941960|PMID:25983621|PMID:26156051|PMID:26206375|PMID:26861945|PMID:26906304|PMID:28324197|PMID:28492532|PMID:28623566|PMID:29095540|PMID:29321515|PMID:32523054|PMID:8950197|PMID:9186905|PMID:9790667 11867216 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:13580 cholestasis ISO RGD:1346613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15795599 11867216 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:13619 extrahepatic cholestasis treatment ISO RGD:727915 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:29360226|REF_RGD_ID:14995480 11867216 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:1936 atherosclerosis ISO RGD:1346613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11166758|PMID:19801147 11867216 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1346613 D RGD:7240710 20180130 OMIM 11867216 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1346613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cholestanol storage disease PMID:10206677|PMID:10406988|PMID:10430841|PMID:10519880|PMID:10741487|PMID:10775536|PMID:11181744|PMID:11313766|PMID:11737215|PMID:11903362|PMID:12000359|PMID:12270007|PMID:12555943|PMID:12933951|PMID:14741198|PMID:14999499|PMID:15795599|PMID:16157755|PMID:16199547|PMID:16278884|PMID:16816916|PMID:17030721|PMID:17319284|PMID:17444890|PMID:17576681|PMID:17697869|PMID:18227423|PMID:18414213|PMID:19092443|PMID:19204079|PMID:19373932|PMID:2019602|PMID:20301583|PMID:20402754|PMID:20450308|PMID:20558929|PMID:20602799|PMID:20925952|PMID:20981092|PMID:21073839|PMID:21228398|PMID:21345536|PMID:21404287|PMID:21553098|PMID:21627786|PMID:21645175|PMID:21764626|PMID:21955034|PMID:21958693|PMID:21966169|PMID:22197981|PMID:22336472|PMID:22849591|PMID:22878431|PMID:23212406|PMID:23287330|PMID:23659550|PMID:24002088|PMID:24033266|PMID:24080357|PMID:24174808|PMID:24584636|PMID:24627108|PMID:24746394|PMID:25112387|PMID:25447658|PMID:25525159|PMID:25558065|PMID:25741868|PMID:25862734|PMID:25941960|PMID:25983621|PMID:26156051|PMID:26206375|PMID:26467025|PMID:26519892|PMID:26622071|PMID:26643207|PMID:26861945|PMID:26906304|PMID:26937392|PMID:27084087|PMID:27142713|PMID:27225395|PMID:27455001|PMID:27535533|PMID:27678445|PMID:27680221|PMID:27858369|PMID:27878435|PMID:27879219|PMID:27884173|PMID:28324197|PMID:28337550|PMID:28492532|PMID:28590052|PMID:28623566|PMID:28749476|PMID:28894950|PMID:28937538|PMID:29095540|PMID:29242796|PMID:29269672|PMID:29321515|PMID:29434128|PMID:30366773|PMID:31450232|PMID:31743419|PMID:31796091|PMID:32523054|PMID:32581172|PMID:32714376|PMID:33313117|PMID:33400472|PMID:33414089|PMID:33624863|PMID:33830582|PMID:34012265|PMID:34145886|PMID:34930075|PMID:7697869|PMID:7860076|PMID:7915755|PMID:8006521|PMID:8014582|PMID:8309576|PMID:8514861|PMID:8730343|PMID:8827518|PMID:8931710|PMID:8950197|PMID:9008528|PMID:9186905|PMID:9254865|PMID:9392430|PMID:9521761|PMID:9536098|PMID:9548584|PMID:9654207|PMID:9790667 11867216 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:5082 liver cirrhosis ISO RGD:1346613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24381012 11867216 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:543 dystonia ISO RGD:1346613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Regression of motor development with severe dystonia and corresponding basal ganglia lesions PMID:25558065|PMID:25741868|PMID:26643207|PMID:28492532 11867216 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1346613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10775536|PMID:12000359|PMID:25558065|PMID:25741868|PMID:26467025|PMID:26643207|PMID:26937392|PMID:28492532|PMID:32581172|PMID:9392430 11867216 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1346613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24381012 11867216 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11867216 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:905 Zellweger syndrome ISO RGD:1550475 D RGD:9068941 20200609 RGD PMID:14673138|REF_RGD_ID:13782195 11867229 ABL2 ABL proto-oncogene 2, non-receptor tyrosine kinase gene DOID:1540 parathyroid carcinoma ISO RGD:1352263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11867229 ABL2 ABL proto-oncogene 2, non-receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:1352263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23707396|PMID:23842646 11867229 ABL2 ABL proto-oncogene 2, non-receptor tyrosine kinase gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1352263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11867229 ABL2 ABL proto-oncogene 2, non-receptor tyrosine kinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11867252 ZNF208 zinc finger protein 208 gene DOID:630 genetic disease ISO RGD:1350011 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867261 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1605700 D RGD:9068941 20200609 RGD PMID:24652950|REF_RGD_ID:9589169 11867261 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:0050553 JMP syndrome ISO RGD:1605700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11867261 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:1909 melanoma disease_progression ISO RGD:1605700 D RGD:9068941 20200609 RGD PMID:24658378|REF_RGD_ID:9590069 11867261 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1605700 D RGD:9068941 20200609 RGD protein:increased expression:esophagus mucosa: PMID:24805087|REF_RGD_ID:9590071 11867261 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1605700 D RGD:9068941 20200609 RGD PMID:20940408|REF_RGD_ID:9589170 11867261 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:4001 ovarian carcinoma ISO RGD:1605700 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:25115793 11867261 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:5223 infertility ISO RGD:1605700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25975992 11867261 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1605700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867261 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1605700 D RGD:9068941 20200609 RGD associated with Esophageal Squamous Cell Carcinoma; PMID:24805087|REF_RGD_ID:9590071 11867261 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1605700 D RGD:9068941 20200609 RGD associated with Melanoma; PMID:24658378|REF_RGD_ID:9590069 11867261 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1605700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20940408|PMID:25115793 11867261 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1605700 D RGD:9068941 20200609 RGD associated with lung neoplasms; PMID:20940408|REF_RGD_ID:9589170 11867261 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:9004203 Chromosome Breakage ISO RGD:1605700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29391238 11867261 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:9004379 Vesicular Stomatitis ISO RGD:1605700 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26418342 11867261 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1605700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20940408 11867261 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1605700 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20056891 11867261 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1605700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29391238 11867261 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:9008443 Colorectal Neoplasms susceptibility ISO RGD:1605700 D RGD:9068941 20200609 RGD DNA:SNP: :rs535586(human) PMID:19843671|REF_RGD_ID:9589147 11867261 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1605700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24532712 11867261 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1550173 D RGD:9068941 20200609 RGD PMID:24532712|REF_RGD_ID:9589168 11867261 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:986 alopecia areata ISO RGD:1605700 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell: PMID:21936853|REF_RGD_ID:9587460 11867261 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1605700 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:32889036 11867305 CPNE9 copine family member 9 gene DOID:2843 long QT syndrome ISO RGD:1604226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11867305 CPNE9 copine family member 9 gene DOID:630 genetic disease ISO RGD:1604226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867305 CPNE9 copine family member 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11867305 CPNE9 copine family member 9 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1604226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 11867343 HOXB4 homeobox B4 gene DOID:630 genetic disease ISO RGD:1344417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867349 VCAN versican gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1349729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11867349 VCAN versican gene DOID:10283 prostate cancer ISO RGD:1349729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 11867349 VCAN versican gene DOID:10941 intracranial aneurysm ISO RGD:1349729 D RGD:9068941 20200609 RGD DNA:SNP: :rs173686 (human) PMID:16917090|REF_RGD_ID:1598495 11867349 VCAN versican gene DOID:289 endometriosis ISO RGD:1349729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 11867349 VCAN versican gene DOID:5844 myocardial infarction ISO RGD:619940 D RGD:9068941 20200609 RGD PMID:16311904|REF_RGD_ID:1598497 11867349 VCAN versican gene DOID:630 genetic disease ISO RGD:1349729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16043844|PMID:16877430|PMID:21738396|PMID:22739342|PMID:25741868|PMID:28492532 11867349 VCAN versican gene DOID:8501 fundus dystrophy ISO RGD:1349729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16043844|PMID:16877430|PMID:21738396|PMID:22739342|PMID:28492532 11867349 VCAN versican gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1349729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11867349 VCAN versican gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11867349 VCAN versican gene DOID:9005830 Hyaloideoretinal Degeneration of Wagner ISO RGD:1349729 D RGD:7240710 20180130 OMIM 11867349 VCAN versican gene DOID:9005830 Hyaloideoretinal Degeneration of Wagner ISO RGD:1349729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Wagner syndrome PMID:10333105|PMID:16043844|PMID:16636652|PMID:16877430|PMID:17035272|PMID:19655167|PMID:19901218|PMID:21738396|PMID:22739342|PMID:2319589|PMID:23462753|PMID:23571384|PMID:24174867|PMID:25741868|PMID:28492532 11867349 VCAN versican gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:619940 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:16311904|REF_RGD_ID:1598497 11867372 SCRT1 scratch family transcriptional repressor 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1314736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11867372 SCRT1 scratch family transcriptional repressor 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1314736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11867372 SCRT1 scratch family transcriptional repressor 1 gene DOID:4621 holoprosencephaly ISO RGD:1314736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11867372 SCRT1 scratch family transcriptional repressor 1 gene DOID:630 genetic disease ISO RGD:1314736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867379 LAPTM5 lysosomal protein transmembrane 5 gene DOID:2986 IgA glomerulonephritis ISO RGD:1354375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 11867379 LAPTM5 lysosomal protein transmembrane 5 gene DOID:630 genetic disease ISO RGD:1354375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867379 LAPTM5 lysosomal protein transmembrane 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1354375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11867392 ANGEL2 angel homolog 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1601837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11867392 ANGEL2 angel homolog 2 gene DOID:630 genetic disease ISO RGD:1601837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867392 ANGEL2 angel homolog 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11867429 SMIM10L2B small integral membrane protein 10 like 2B gene DOID:12849 autistic disorder ISO RGD:2301114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11867479 PAEP progestagen associated endometrial protein gene DOID:0050777 Joubert syndrome ISO RGD:1347038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11867479 PAEP progestagen associated endometrial protein gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1347038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:25741868|PMID:28492532|PMID:31209758 11867479 PAEP progestagen associated endometrial protein gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1347038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11867479 PAEP progestagen associated endometrial protein gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1347038 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11867479 PAEP progestagen associated endometrial protein gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1347038 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11867479 PAEP progestagen associated endometrial protein gene DOID:0081097 Rafiq syndrome ISO RGD:1347038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11867479 PAEP progestagen associated endometrial protein gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1347038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 11867479 PAEP progestagen associated endometrial protein gene DOID:3652 Leigh disease ISO RGD:1347038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11867479 PAEP progestagen associated endometrial protein gene DOID:630 genetic disease ISO RGD:1347038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867479 PAEP progestagen associated endometrial protein gene DOID:9003281 Spontaneous Abortions ISO RGD:1347038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11867479 PAEP progestagen associated endometrial protein gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1347038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 11867479 PAEP progestagen associated endometrial protein gene DOID:9008939 Breast Neoplasms ISO RGD:1347038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22296396 11867510 PEX11A peroxisomal biogenesis factor 11 alpha gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1348303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 11867510 PEX11A peroxisomal biogenesis factor 11 alpha gene DOID:2717 Bloom syndrome ISO RGD:1348303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11867510 PEX11A peroxisomal biogenesis factor 11 alpha gene DOID:630 genetic disease ISO RGD:1348303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867510 PEX11A peroxisomal biogenesis factor 11 alpha gene DOID:9003370 Dyslipidemias ISO RGD:1348303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30585412 11867510 PEX11A peroxisomal biogenesis factor 11 alpha gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11867510 PEX11A peroxisomal biogenesis factor 11 alpha gene DOID:9256 colorectal cancer ISO RGD:1348303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11867510 PEX11A peroxisomal biogenesis factor 11 alpha gene DOID:9970 obesity ISO RGD:1348303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30585412 11867522 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1349317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11867522 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1349317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11867522 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:1059 intellectual disability ISO RGD:1349317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28135719|PMID:28492532|PMID:29463886|PMID:30397230|PMID:31048695 11867522 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:12177 common variable immunodeficiency ISO RGD:1349317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11867522 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:12849 autistic disorder ISO RGD:1349317 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:25741868 11867522 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1349317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11867522 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:1826 epilepsy ISO RGD:1349317 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11867522 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1349317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11867522 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1349317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 11867522 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:4905 pancreatic carcinoma disease_progression ISO RGD:1311923 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:21472101|REF_RGD_ID:9587766 11867522 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:630 genetic disease ISO RGD:1349317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15988005|PMID:25741868|PMID:28135719|PMID:28492532|PMID:29463886|PMID:30397230|PMID:31048695|PMID:32483341|PMID:35346573|PMID:8871545|PMID:9688266 11867522 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:8541 Sezary's disease ISO RGD:1349317 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 11867522 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:9001540 Snijders Blok-Campeau Syndrome ISO RGD:1349317 D RGD:7240710 20190329 OMIM 11867522 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:9001540 Snijders Blok-Campeau Syndrome ISO RGD:1349317 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome PMID:25741868|PMID:28135719|PMID:28492532|PMID:29463886|PMID:30397230|PMID:31048695|PMID:32483341|PMID:35346573 11867522 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349317 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11867522 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30397230 11867522 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1349317 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11867522 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1349317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:30397230 11867522 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1349317 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:30397230 11867522 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:9008582 Developmental Disease ISO RGD:1349317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11867565 ITIH3 inter-alpha-trypsin inhibitor heavy chain 3 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:732422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 11867565 ITIH3 inter-alpha-trypsin inhibitor heavy chain 3 gene DOID:630 genetic disease ISO RGD:732422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867565 ITIH3 inter-alpha-trypsin inhibitor heavy chain 3 gene DOID:684 hepatocellular carcinoma ISO RGD:732422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 11867598 B3GNT5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:735674 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11867598 B3GNT5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:735674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11867598 B3GNT5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 gene DOID:0111546 Currarino syndrome ISO RGD:735674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11867598 B3GNT5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 gene DOID:630 genetic disease ISO RGD:735674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867607 SAR1B secretion associated Ras related GTPase 1B gene DOID:0060357 chylomicron retention disease ISO RGD:1313710 D RGD:7240710 20180130 OMIM 11867607 SAR1B secretion associated Ras related GTPase 1B gene DOID:0060357 chylomicron retention disease ISO RGD:1313710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chylomicron retention disease PMID:10665502|PMID:12692552|PMID:17309654|PMID:17945526|PMID:19285442|PMID:24033266|PMID:25741868|PMID:28492532 11867607 SAR1B secretion associated Ras related GTPase 1B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313710 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11867607 SAR1B secretion associated Ras related GTPase 1B gene DOID:630 genetic disease ISO RGD:1313710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19846172|PMID:21235735|PMID:28492532|PMID:29713611|PMID:30782561|PMID:9536098 11867607 SAR1B secretion associated Ras related GTPase 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11867607 SAR1B secretion associated Ras related GTPase 1B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313710 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11867607 SAR1B secretion associated Ras related GTPase 1B gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1313710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:12692552|PMID:25741868 11867618 TMEM8B transmembrane protein 8B gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1320668 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11867618 TMEM8B transmembrane protein 8B gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1320668 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11867618 TMEM8B transmembrane protein 8B gene DOID:0080942 anauxetic dysplasia ISO RGD:1320668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11867618 TMEM8B transmembrane protein 8B gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1320668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11867618 TMEM8B transmembrane protein 8B gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1320668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11867618 TMEM8B transmembrane protein 8B gene DOID:630 genetic disease ISO RGD:1320668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867618 TMEM8B transmembrane protein 8B gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1320668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11867618 TMEM8B transmembrane protein 8B gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320668 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11867618 TMEM8B transmembrane protein 8B gene DOID:9870 galactosemia ISO RGD:1320668 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11867661 NSMCE4A NSE4 homolog A, SMC5-SMC6 complex component gene DOID:2340 craniosynostosis ISO RGD:1319136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 11867661 NSMCE4A NSE4 homolog A, SMC5-SMC6 complex component gene DOID:630 genetic disease ISO RGD:1319136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867684 LIPJ lipase family member J gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1603579 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9286463|PMID:9467011 11867684 LIPJ lipase family member J gene DOID:630 genetic disease ISO RGD:1603579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867684 LIPJ lipase family member J gene DOID:783 end stage renal disease ISO RGD:1603579 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Stage 5 chronic kidney disease PMID:28492532 11867695 EIF1AX eukaryotic translation initiation factor 1A X-linked gene DOID:0060599 Nance-Horan syndrome ISO RGD:1351588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11867695 EIF1AX eukaryotic translation initiation factor 1A X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11867695 EIF1AX eukaryotic translation initiation factor 1A X-linked gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1351588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11867695 EIF1AX eukaryotic translation initiation factor 1A X-linked gene DOID:0111042 glycogen storage disease IXa ISO RGD:1351588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11867695 EIF1AX eukaryotic translation initiation factor 1A X-linked gene DOID:12849 autistic disorder ISO RGD:1351588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11867695 EIF1AX eukaryotic translation initiation factor 1A X-linked gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1351588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11867695 EIF1AX eukaryotic translation initiation factor 1A X-linked gene DOID:6039 uveal melanoma ISO RGD:1351588 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:23793026 11867695 EIF1AX eukaryotic translation initiation factor 1A X-linked gene DOID:630 genetic disease ISO RGD:1351588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867695 EIF1AX eukaryotic translation initiation factor 1A X-linked gene DOID:6438 malignant choroid melanoma ISO RGD:1351588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Choroidal melanoma PMID:25741868 11867695 EIF1AX eukaryotic translation initiation factor 1A X-linked gene DOID:9000965 Neoplasm Metastasis ISO RGD:1351588 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 11867695 EIF1AX eukaryotic translation initiation factor 1A X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11867695 EIF1AX eukaryotic translation initiation factor 1A X-linked gene DOID:9538 multiple myeloma ISO RGD:1351588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11867706 SLC6A14 solute carrier family 6 member 14 gene DOID:0050589 inflammatory bowel disease ISO RGD:1561810 D RGD:9068941 20200609 RGD protein:decreased expression:epithelial cell, colon PMID:17065219|REF_RGD_ID:1625272 11867706 SLC6A14 solute carrier family 6 member 14 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11867706 SLC6A14 solute carrier family 6 member 14 gene DOID:10608 celiac disease ISO RGD:1347984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 11867706 SLC6A14 solute carrier family 6 member 14 gene DOID:12849 autistic disorder ISO RGD:1347984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11867706 SLC6A14 solute carrier family 6 member 14 gene DOID:1485 cystic fibrosis ISO RGD:1347984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22466613 11867706 SLC6A14 solute carrier family 6 member 14 gene DOID:630 genetic disease ISO RGD:1347984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867706 SLC6A14 solute carrier family 6 member 14 gene DOID:8437 intestinal obstruction ISO RGD:1347984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22466613 11867706 SLC6A14 solute carrier family 6 member 14 gene DOID:9002802 Acidoses ISO RGD:1561810 D RGD:9068941 20200609 RGD mRNA:increased expression:jejunum PMID:15300171|REF_RGD_ID:1625278 11867706 SLC6A14 solute carrier family 6 member 14 gene DOID:9005474 Experimental Sarcoma ISO RGD:1561810 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brush border epithelial cell PMID:17006743|REF_RGD_ID:1625275 11867706 SLC6A14 solute carrier family 6 member 14 gene DOID:9970 obesity susceptibility ISO RGD:1347984 D RGD:9068941 20200609 RGD DNA:SNPs PMID:15331564|REF_RGD_ID:1625271 11867727 VPS53 VPS53 subunit of GARP complex gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1605366 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:24577744|PMID:25741868|PMID:30100179 11867727 VPS53 VPS53 subunit of GARP complex gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1605366 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:24577744|PMID:25741868|PMID:30100179 11867727 VPS53 VPS53 subunit of GARP complex gene DOID:0060271 pontocerebellar hypoplasia type 2E ISO RGD:1605366 D RGD:7240710 20180130 OMIM 11867727 VPS53 VPS53 subunit of GARP complex gene DOID:0060271 pontocerebellar hypoplasia type 2E ISO RGD:1605366 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2E PMID:12920088|PMID:24577744|PMID:25741868|PMID:28492532|PMID:28567303|PMID:30100179 11867727 VPS53 VPS53 subunit of GARP complex gene DOID:10907 microcephaly ISO RGD:1605366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11867727 VPS53 VPS53 subunit of GARP complex gene DOID:630 genetic disease ISO RGD:1605366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867727 VPS53 VPS53 subunit of GARP complex gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605366 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868 11867757 SPATA6 spermatogenesis associated 6 gene DOID:630 genetic disease ISO RGD:732866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867786 ECT2L epithelial cell transforming 2 like gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1353624 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 11867786 ECT2L epithelial cell transforming 2 like gene DOID:630 genetic disease ISO RGD:1353624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867818 BTNL9 butyrophilin like 9 gene DOID:630 genetic disease ISO RGD:1353775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867834 GTF3C1 general transcription factor IIIC subunit 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 11867834 GTF3C1 general transcription factor IIIC subunit 1 gene DOID:630 genetic disease ISO RGD:736274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867834 GTF3C1 general transcription factor IIIC subunit 1 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:736274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 11867880 IL9 interleukin 9 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:735276 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11867880 IL9 interleukin 9 gene DOID:0080600 COVID-19 severity ISO RGD:735276 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 11867880 IL9 interleukin 9 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735276 D RGD:9068941 20200609 RGD associated with Influenza;protein:increased expression:serum PMID:21062445|REF_RGD_ID:5128683 11867880 IL9 interleukin 9 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1620109 D RGD:9068941 20200609 RGD PMID:19915054|REF_RGD_ID:5128685 11867880 IL9 interleukin 9 gene DOID:1273 respiratory syncytial virus infectious disease susceptibility ISO RGD:735276 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2069885, rs1799962 (human) PMID:20503287|REF_RGD_ID:5128684 11867880 IL9 interleukin 9 gene DOID:1485 cystic fibrosis ISO RGD:735276 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system mucosa PMID:12782818|REF_RGD_ID:5128699 11867880 IL9 interleukin 9 gene DOID:2048 autoimmune hepatitis ISO RGD:735276 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 11867880 IL9 interleukin 9 gene DOID:2841 asthma ISO RGD:1620109 D RGD:9068941 20200609 RGD PMID:12153980|PMID:17446528|REF_RGD_ID:5128686|REF_RGD_ID:5128700 11867880 IL9 interleukin 9 gene DOID:2841 asthma ISO RGD:1620109 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:15531759|REF_RGD_ID:5128690 11867880 IL9 interleukin 9 gene DOID:2841 asthma ISO RGD:735276 D RGD:9068941 20200609 RGD PMID:21356110|REF_RGD_ID:5128707 11867880 IL9 interleukin 9 gene DOID:2841 asthma ISO RGD:735276 D RGD:9068941 20200609 RGD protein:increased expression:sputum, macrophage, cytoplasm PMID:15303135|REF_RGD_ID:5128691 11867880 IL9 interleukin 9 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735276 D RGD:9068941 20200609 RGD protein:increased expression:sputum, macrophage, cytoplasm PMID:15303135|REF_RGD_ID:5128691 11867880 IL9 interleukin 9 gene DOID:3770 pulmonary fibrosis ISO RGD:1620109 D RGD:9068941 20200609 RGD associated with Silicosis PMID:11306428|REF_RGD_ID:5128702 11867880 IL9 interleukin 9 gene DOID:4483 rhinitis ISO RGD:735276 D RGD:9068941 20200609 RGD PMID:20525149|REF_RGD_ID:5128687 11867880 IL9 interleukin 9 gene DOID:630 genetic disease ISO RGD:735276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867880 IL9 interleukin 9 gene DOID:850 lung disease ISO RGD:1620109 D RGD:9068941 20200609 RGD Lung Injury PMID:15632004|REF_RGD_ID:5128689 11867880 IL9 interleukin 9 gene DOID:9001472 Nasal Polyps ISO RGD:735276 D RGD:9068941 20200609 RGD associated with Bronchial Hyperreactivity PMID:15007348|REF_RGD_ID:5128694 11867880 IL9 interleukin 9 gene DOID:9002221 Hyperplasia ISO RGD:735276 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19342650 11867880 IL9 interleukin 9 gene DOID:9003281 Spontaneous Abortions ISO RGD:735276 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11867880 IL9 interleukin 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11867880 IL9 interleukin 9 gene DOID:9005700 Airway Obstruction ISO RGD:735276 D RGD:9068941 20200609 RGD associated with Bronchitis, Chronic;mRNA:increased expression:respiratory system fluid/secretion, T cell PMID:14605067|REF_RGD_ID:5128696 11867880 IL9 interleukin 9 gene DOID:9006928 Viral Bronchiolitis ISO RGD:735276 D RGD:9068941 20200609 RGD PMID:15051283|REF_RGD_ID:5128692 11867880 IL9 interleukin 9 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735276 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11867889 MRAP melanocortin 2 receptor accessory protein gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11867889 MRAP melanocortin 2 receptor accessory protein gene DOID:0060898 Parkinson's disease 20 ISO RGD:1603024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 11867889 MRAP melanocortin 2 receptor accessory protein gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1603024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11867889 MRAP melanocortin 2 receptor accessory protein gene DOID:0080621 glucocorticoid deficiency 1 ISO RGD:1603024 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Glucocorticoid deficiency 1 PMID:15654338|PMID:24033266|PMID:25741868 11867889 MRAP melanocortin 2 receptor accessory protein gene DOID:630 genetic disease ISO RGD:1603024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867889 MRAP melanocortin 2 receptor accessory protein gene DOID:9005698 ZTTK Syndrome ISO RGD:1603024 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 11867889 MRAP melanocortin 2 receptor accessory protein gene DOID:9006725 Glucocorticoid Deficiency 2 ISO RGD:1603024 D RGD:7240710 20180130 OMIM 11867889 MRAP melanocortin 2 receptor accessory protein gene DOID:9006725 Glucocorticoid Deficiency 2 ISO RGD:1603024 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Glucocorticoid deficiency 2 PMID:15654338|PMID:16868047|PMID:24033266|PMID:25741868|PMID:28492532 11867889 MRAP melanocortin 2 receptor accessory protein gene DOID:9553 adrenal gland disease ISO RGD:1621455 D RGD:9068941 20220825 MouseDO 11867897 CLDN4 claudin 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1317413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 11867897 CLDN4 claudin 4 gene DOID:0060496 respiratory allergy ISO RGD:1317413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30608172 11867897 CLDN4 claudin 4 gene DOID:10923 sickle cell anemia ISO RGD:1317413 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 11867897 CLDN4 claudin 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:1317413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11867897 CLDN4 claudin 4 gene DOID:12849 autistic disorder ISO RGD:1317413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11867897 CLDN4 claudin 4 gene DOID:13976 peptic esophagitis ISO RGD:1307932 D RGD:9068941 20200609 RGD protein:altered localization:esophagus epithelium, cytoplasm PMID:16143882|REF_RGD_ID:2317602 11867897 CLDN4 claudin 4 gene DOID:1790 malignant mesothelioma ISO RGD:1317413 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:28377727 11867897 CLDN4 claudin 4 gene DOID:1793 pancreatic cancer ISO RGD:1317413 D RGD:9068941 20200609 RGD PMID:19555390|PMID:19793693|REF_RGD_ID:2317580|REF_RGD_ID:2317583 11867897 CLDN4 claudin 4 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1317413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 11867897 CLDN4 claudin 4 gene DOID:1929 supravalvular aortic stenosis ISO RGD:1317413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis PMID:10627943|PMID:11175284|PMID:25205790|PMID:28277377|PMID:28492532|PMID:7557968|PMID:7611295|PMID:7726172|PMID:8968740 11867897 CLDN4 claudin 4 gene DOID:2394 ovarian cancer ISO RGD:1317413 D RGD:9068941 20200609 RGD PMID:19555390|REF_RGD_ID:2317583 11867897 CLDN4 claudin 4 gene DOID:3008 invasive ductal carcinoma ISO RGD:1317413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19142967 11867897 CLDN4 claudin 4 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1317413 D RGD:9068941 20200609 RGD PMID:15693851|REF_RGD_ID:2317592 11867897 CLDN4 claudin 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11867897 CLDN4 claudin 4 gene DOID:5419 schizophrenia ISO RGD:1317413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11867897 CLDN4 claudin 4 gene DOID:630 genetic disease ISO RGD:1317413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867897 CLDN4 claudin 4 gene DOID:8445 intestinal volvulus ISO RGD:1317413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11867897 CLDN4 claudin 4 gene DOID:9004009 Reperfusion Injury ISO RGD:1307932 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:small intestine epithelium PMID:17375208|REF_RGD_ID:2317600 11867897 CLDN4 claudin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11867897 CLDN4 claudin 4 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1317413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19142967 11867897 CLDN4 claudin 4 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1317413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11867897 CLDN4 claudin 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1317413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19142967 11867907 STRC stereocilin gene DOID:0070173 spermatogenic failure 7 ISO RGD:1344167 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: MALE INFERTILITY, NONSYNDROMIC, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 7 PMID:21078986|PMID:22147502|PMID:24033266|PMID:25157971|PMID:25741868|PMID:26467025 11867907 STRC stereocilin gene DOID:0110471 autosomal recessive nonsyndromic deafness 16 ISO RGD:1344167 D RGD:7240710 20230505 OMIM 11867907 STRC stereocilin gene DOID:0110471 autosomal recessive nonsyndromic deafness 16 ISO RGD:1344167 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 16 PMID:11687802|PMID:18414213|PMID:21078986|PMID:21681106|PMID:22147502|PMID:24033266|PMID:24963352|PMID:25157971|PMID:25741868|PMID:26011646|PMID:26467025|PMID:26746617|PMID:31552524|PMID:32203226|PMID:35802133|PMID:36633841 11867907 STRC stereocilin gene DOID:0110547 autosomal dominant nonsyndromic deafness 16 ISO RGD:1344167 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 16 PMID:22147502|PMID:24033266|PMID:25741868 11867907 STRC stereocilin gene DOID:10003 sensorineural hearing loss ISO RGD:1344167 D RGD:9068941 20230427 RGD PMID:11687802|REF_RGD_ID:1599186 11867907 STRC stereocilin gene DOID:2717 Bloom syndrome ISO RGD:1344167 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11867907 STRC stereocilin gene DOID:630 genetic disease ISO RGD:1344167 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266 11867907 STRC stereocilin gene DOID:9002477 Sensorineural Deafness and Male Infertility ISO RGD:1344167 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Deafness-infertility syndrome PMID:18414213|PMID:21078986|PMID:22147502|PMID:24033266|PMID:25157971|PMID:25741868|PMID:26467025 11867907 STRC stereocilin gene DOID:9004538 Hearing Loss ISO RGD:1344167 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:30311386 11867907 STRC stereocilin gene DOID:9256 colorectal cancer ISO RGD:1344167 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11867908 PKNOX1 PBX/knotted 1 homeobox 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1312771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11867908 PKNOX1 PBX/knotted 1 homeobox 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:1312771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11867908 PKNOX1 PBX/knotted 1 homeobox 1 gene DOID:630 genetic disease ISO RGD:1312771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867908 PKNOX1 PBX/knotted 1 homeobox 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1312771 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11867908 PKNOX1 PBX/knotted 1 homeobox 1 gene DOID:9263 homocystinuria ISO RGD:1312771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11867908 PKNOX1 PBX/knotted 1 homeobox 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1312771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11867923 ADAM11 ADAM metallopeptidase domain 11 gene DOID:630 genetic disease ISO RGD:1316754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867956 LST1 leukocyte specific transcript 1 gene DOID:0050553 JMP syndrome ISO RGD:1350273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11867956 LST1 leukocyte specific transcript 1 gene DOID:0081267 graft-versus-host disease ISO RGD:1350273 D RGD:9068941 20200609 RGD DNA:repeat:intron:IVS3dupGA (human) PMID:9808588|REF_RGD_ID:2316565 11867956 LST1 leukocyte specific transcript 1 gene DOID:11372 megacolon ISO RGD:1350273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11867956 LST1 leukocyte specific transcript 1 gene DOID:630 genetic disease ISO RGD:1350273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867956 LST1 leukocyte specific transcript 1 gene DOID:9005372 Inflammation severity ISO RGD:1350273 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid; mRNA:increased expression:synovium (human) PMID:16362817|REF_RGD_ID:2316570 11867973 ANPEP alanyl aminopeptidase, membrane gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:737099 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 11867973 ANPEP alanyl aminopeptidase, membrane gene DOID:11054 urinary bladder cancer ISO RGD:737099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 11867973 ANPEP alanyl aminopeptidase, membrane gene DOID:2717 Bloom syndrome ISO RGD:737099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11867973 ANPEP alanyl aminopeptidase, membrane gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:737099 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 11867973 ANPEP alanyl aminopeptidase, membrane gene DOID:630 genetic disease ISO RGD:737099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867973 ANPEP alanyl aminopeptidase, membrane gene DOID:9256 colorectal cancer ISO RGD:737099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11867997 PDE4C phosphodiesterase 4C gene DOID:630 genetic disease ISO RGD:737216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11867997 PDE4C phosphodiesterase 4C gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:737216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11868029 DAP death associated protein gene DOID:630 genetic disease ISO RGD:737267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868029 DAP death associated protein gene DOID:8577 ulcerative colitis ISO RGD:737267 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297633 11868037 RPGR retinitis pigmentosa GTPase regulator gene DOID:0050534 congenital stationary night blindness ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:28041643 11868037 RPGR retinitis pigmentosa GTPase regulator gene DOID:0050572 cone-rod dystrophy ISO RGD:1352855 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868|PMID:30718709 11868037 RPGR retinitis pigmentosa GTPase regulator gene DOID:0050795 cone dystrophy ISO RGD:1352855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:11857109|PMID:11875055|PMID:22264887|PMID:25741868|PMID:28492532|PMID:29785639 11868037 RPGR retinitis pigmentosa GTPase regulator gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11868037 RPGR retinitis pigmentosa GTPase regulator gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked PMID:22929960|PMID:27701760|PMID:28492532 11868037 RPGR retinitis pigmentosa GTPase regulator gene DOID:0110413 retinitis pigmentosa 6 ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 6 PMID:25741868 11868037 RPGR retinitis pigmentosa GTPase regulator gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1352855 D RGD:7240710 20180130 OMIM 11868037 RPGR retinitis pigmentosa GTPase regulator gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1352855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 15 | ClinVar Annotator: match by term: Retinitis pigmentosa 3 PMID:10401007|PMID:10482958|PMID:10932196|PMID:10937588|PMID:10970770|PMID:11754050|PMID:11754051|PMID:11857109|PMID:11875055|PMID:11992260|PMID:12160730|PMID:12402343|PMID:12657579|PMID:14564670|PMID:15734019|PMID:16055928|PMID:16387007|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17405150|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:19815619|PMID:20631154|PMID:21326217|PMID:21866333|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23681342|PMID:24033266|PMID:25356976|PMID:25741868|PMID:25741869|PMID:26143542|PMID:26261414|PMID:27620828|PMID:28322733|PMID:28492532|PMID:29276052|PMID:29528978|PMID:29721948|PMID:29785639|PMID:30029497|PMID:30193314|PMID:30622176|PMID:31456290|PMID:31645972|PMID:31804667|PMID:31953110|PMID:31960602|PMID:32679846|PMID:32702353|PMID:33546218|PMID:7611300|PMID:8673101|PMID:8817343|PMID:9326322|PMID:9399904|PMID:9536098|PMID:9855162 11868037 RPGR retinitis pigmentosa GTPase regulator gene DOID:0111008 X-linked cone-rod dystrophy 1 ISO RGD:1352855 D RGD:7240710 20180130 OMIM 11868037 RPGR retinitis pigmentosa GTPase regulator gene DOID:0111008 X-linked cone-rod dystrophy 1 ISO RGD:1352855 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: X-linked cone-rod dystrophy 1 PMID:10482958|PMID:11857109|PMID:11875055|PMID:12657579|PMID:15914600|PMID:16055928|PMID:16199547|PMID:16969763|PMID:18332319|PMID:22264887|PMID:23150612|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29785639|PMID:31630094|PMID:31645972|PMID:31804667|PMID:8673101 11868037 RPGR retinitis pigmentosa GTPase regulator gene DOID:0112124 X-linked retinitis pigmentosa and sinorespiratory infections ISO RGD:1352855 D RGD:7240710 20180130 OMIM 11868037 RPGR retinitis pigmentosa GTPase regulator gene DOID:0112124 X-linked retinitis pigmentosa and sinorespiratory infections ISO RGD:1352855 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, SINORESPIRATORY INFECTIONS, AND DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness PMID:10094550|PMID:14627685|PMID:16055928|PMID:1733835|PMID:25741868|PMID:8673101 11868037 RPGR retinitis pigmentosa GTPase regulator gene DOID:0112157 X-linked atrophic macular degeneration ISO RGD:1352855 D RGD:7240710 20180130 OMIM 11868037 RPGR retinitis pigmentosa GTPase regulator gene DOID:0112157 X-linked atrophic macular degeneration ISO RGD:1352855 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Macular degeneration, X-linked atrophic PMID:12160730|PMID:24033266|PMID:25741868|PMID:28492532|PMID:8673101 11868037 RPGR retinitis pigmentosa GTPase regulator gene DOID:10485 esophageal atresia ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 11868037 RPGR retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10482958|PMID:10932196|PMID:11992260|PMID:16055928|PMID:16969763|PMID:17480003|PMID:20861475|PMID:23372056|PMID:25741868|PMID:26143542|PMID:28041643|PMID:28492532|PMID:30718709|PMID:30917587|PMID:31645972|PMID:32531858|PMID:32679846|PMID:8817343 11868037 RPGR retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10482958|PMID:10932196|PMID:11992260|PMID:16055928|PMID:16969763|PMID:17480003|PMID:23372056|PMID:25741868|PMID:26143542|PMID:28041643|PMID:28492532|PMID:30718709|PMID:30917587|PMID:31645972|PMID:32531858|PMID:32679846|PMID:8817343 11868037 RPGR retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10482958|PMID:10932196|PMID:11754050|PMID:11992260|PMID:12657579|PMID:16055928|PMID:16969763|PMID:17195164|PMID:17480003|PMID:23150612|PMID:23372056|PMID:25741868|PMID:26143542|PMID:27236918|PMID:28041643|PMID:28492532|PMID:30718709|PMID:30917587|PMID:31645972|PMID:32531858|PMID:32679846|PMID:8817343 11868037 RPGR retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10482958|PMID:10932196|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:28041643|PMID:28322733|PMID:28492532|PMID:29276052|PMID:30029497|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:32531858|PMID:32679846|PMID:32702353|PMID:8673101|PMID:8817343|PMID:9536098 11868037 RPGR retinitis pigmentosa GTPase regulator gene DOID:12336 male infertility ISO RGD:1557212 D RGD:9068941 20200609 RGD PMID:18579752|REF_RGD_ID:8553213 11868037 RPGR retinitis pigmentosa GTPase regulator gene DOID:12849 autistic disorder ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11868037 RPGR retinitis pigmentosa GTPase regulator gene DOID:14791 Leber congenital amaurosis treatment ISO RGD:1557212 D RGD:9068941 20200609 RGD PMID:20384479|REF_RGD_ID:8553217 11868037 RPGR retinitis pigmentosa GTPase regulator gene DOID:4448 macular degeneration ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:25741868|PMID:28041643 11868037 RPGR retinitis pigmentosa GTPase regulator gene DOID:630 genetic disease ISO RGD:1352855 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11868037 RPGR retinitis pigmentosa GTPase regulator gene DOID:8466 retinal degeneration ISO RGD:1352855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19430481 11868037 RPGR retinitis pigmentosa GTPase regulator gene DOID:8466 retinal degeneration ISO RGD:1557212 D RGD:9068941 20200609 RGD PMID:15671266|REF_RGD_ID:8553201 11868037 RPGR retinitis pigmentosa GTPase regulator gene DOID:8501 fundus dystrophy ISO RGD:1352855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10480356|PMID:10932196|PMID:10937588|PMID:11180598|PMID:11754050|PMID:11857109|PMID:11875055|PMID:11992260|PMID:12160730|PMID:12657579|PMID:14564670|PMID:15734019|PMID:16055928|PMID:16199547|PMID:16387007|PMID:16969763|PMID:17195164|PMID:17576681|PMID:18332319|PMID:19815619|PMID:20631154|PMID:21326217|PMID:21857984|PMID:21866333|PMID:22264887|PMID:22888088|PMID:23150612|PMID:23372056|PMID:23681342|PMID:25741868|PMID:26872967|PMID:27620828|PMID:28322733|PMID:28492532|PMID:29528978|PMID:29721948|PMID:29785639|PMID:30029497|PMID:30718709|PMID:30917587|PMID:30924848|PMID:31054281|PMID:31087526|PMID:31645972|PMID:31804667|PMID:31953110|PMID:32037395|PMID:32679846|PMID:32702353|PMID:33090715|PMID:33576794|PMID:8673101|PMID:9326322|PMID:9399904|PMID:9536098|PMID:9855162 11868037 RPGR retinitis pigmentosa GTPase regulator gene DOID:9001591 Ciliary Motility Disorders ISO RGD:1352855 D RGD:9068941 20230309 RGD associated with Retinitis Pigmentosa 3;DNA:exon, intron:g.631_IVS6+9del (human) PMID:16055928|REF_RGD_ID:1599600 11868037 RPGR retinitis pigmentosa GTPase regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11868037 RPGR retinitis pigmentosa GTPase regulator gene DOID:9004538 Hearing Loss ISO RGD:1352855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12920075 11868037 RPGR retinitis pigmentosa GTPase regulator gene DOID:9008680 Respiratory Tract Infections ISO RGD:1352855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12920075 11868037 RPGR retinitis pigmentosa GTPase regulator gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1352855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:10946359|PMID:11793468|PMID:16055928|PMID:16786505|PMID:16969763|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 11868037 RPGR retinitis pigmentosa GTPase regulator gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352855 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:10480356|PMID:10482958|PMID:10737996|PMID:10932196|PMID:10937588|PMID:10946359|PMID:11180598|PMID:11754050|PMID:11793468|PMID:11857109|PMID:11875055|PMID:11992260|PMID:12160730|PMID:12402343|PMID:12657579|PMID:12859409|PMID:14564670|PMID:15734019|PMID:16055928|PMID:16199547|PMID:16387007|PMID:16786505|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17405150|PMID:17480003|PMID:17576681|PMID:17724181|PMID:17898302|PMID:18332319|PMID:18487280|PMID:18552978|PMID:19138872|PMID:19218993|PMID:19475717|PMID:19783189|PMID:19815619|PMID:20631154|PMID:20861475|PMID:21326217|PMID:21857984|PMID:21866333|PMID:22264887|PMID:22382802|PMID:22494545|PMID:22888088|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23591405|PMID:23681342|PMID:23847139|PMID:23950152|PMID:24033266|PMID:25097241|PMID:25356976|PMID:25640679|PMID:25741868|PMID:26261414|PMID:26747767|PMID:26766544|PMID:27620828|PMID:27768226|PMID:28041643|PMID:28127548|PMID:28322733|PMID:28492532|PMID:28559085|PMID:28863407|PMID:28912962|PMID:29276052|PMID:29453956|PMID:29528978|PMID:29555955|PMID:29641573|PMID:29721948|PMID:29785639|PMID:30029497|PMID:30067075|PMID:30105367|PMID:30193314|PMID:30337596|PMID:30543658|PMID:30622176|PMID:30718709|PMID:30902645|PMID:30917587|PMID:30924848|PMID:31054281|PMID:31087526|PMID:31456290|PMID:31630094|PMID:31645972|PMID:31804667|PMID:31953110|PMID:31960602|PMID:32000842|PMID:32037395|PMID:32531858|PMID:32679846|PMID:32702353|PMID:32788070|PMID:32856788|PMID:33090715|PMID:33355362|PMID:33546218|PMID:33576794|PMID:34946927|PMID:8673101|PMID:8817343|PMID:9326322|PMID:9331262|PMID:9399904|PMID:9536098|PMID:9855162|PMID:9990021 11868069 VWA2 von Willebrand factor A domain containing 2 gene DOID:9620 vesicoureteral reflux ISO RGD:1603244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vesicoureteral reflux PMID:29351342 11868086 FADS3 fatty acid desaturase 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1352711 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11868086 FADS3 fatty acid desaturase 3 gene DOID:1059 intellectual disability ISO RGD:1352711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11868086 FADS3 fatty acid desaturase 3 gene DOID:630 genetic disease ISO RGD:1352711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868131 ZFTA zinc finger translocation associated gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:2910589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11868131 ZFTA zinc finger translocation associated gene DOID:1059 intellectual disability ISO RGD:2910589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11868131 ZFTA zinc finger translocation associated gene DOID:3070 high grade glioma ISO RGD:2910589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11868145 LOC100986264 putative uncharacterized protein LINC02901 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1350961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 11868145 LOC100986264 putative uncharacterized protein LINC02901 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1350961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 11868152 MLANA melan-A gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1315192 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 11868152 MLANA melan-A gene DOID:1790 malignant mesothelioma ISO RGD:1315192 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 11868152 MLANA melan-A gene DOID:1909 melanoma ISO RGD:1315192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26640592 11868152 MLANA melan-A gene DOID:2773 contact dermatitis ISO RGD:1315192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11868152 MLANA melan-A gene DOID:630 genetic disease ISO RGD:1315192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868152 MLANA melan-A gene DOID:9001834 Peritoneal Neoplasms ISO RGD:1315192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 11868161 ANXA10 annexin A10 gene DOID:1793 pancreatic cancer ISO RGD:1318989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28369074 11868161 ANXA10 annexin A10 gene DOID:630 genetic disease ISO RGD:1318989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868161 ANXA10 annexin A10 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1318989 D RGD:9068941 20220901 RGD mRNA:decreased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 11868194 SAA1 serum amyloid A1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1317420 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 11868194 SAA1 serum amyloid A1 gene DOID:1059 intellectual disability ISO RGD:1317420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11868194 SAA1 serum amyloid A1 gene DOID:2773 contact dermatitis ISO RGD:1317420 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15944321 11868194 SAA1 serum amyloid A1 gene DOID:630 genetic disease ISO RGD:1317420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868194 SAA1 serum amyloid A1 gene DOID:9000371 influenza A ISO RGD:1317420 D RGD:9068941 20210122 RGD protein:increased expression:blood plasma (human) PMID:24888898|REF_RGD_ID:40903071 11868194 SAA1 serum amyloid A1 gene DOID:9002457 Experimental Arthritis ISO RGD:1317420 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15944321 11868194 SAA1 serum amyloid A1 gene DOID:9120 amyloidosis ISO RGD:1317420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Serum amyloid a variant PMID:1546977|PMID:1764061|PMID:28492532|PMID:7655463 11868205 TPRG1 tumor protein p63 regulated 1 gene DOID:5419 schizophrenia ISO RGD:1605237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11868205 TPRG1 tumor protein p63 regulated 1 gene DOID:630 genetic disease ISO RGD:1605237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868215 MAPRE2 microtubule associated protein RP/EB family member 2 gene DOID:0112243 congenital symmetric circumferential skin creases 2 ISO RGD:1344538 D RGD:7240710 20180130 OMIM 11868215 MAPRE2 microtubule associated protein RP/EB family member 2 gene DOID:0112243 congenital symmetric circumferential skin creases 2 ISO RGD:1344538 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Skin creases, congenital symmetric circumferential, 2 PMID:19182162|PMID:21262397|PMID:25741868|PMID:26637975|PMID:31903734 11868215 MAPRE2 microtubule associated protein RP/EB family member 2 gene DOID:1059 intellectual disability ISO RGD:1344538 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11868215 MAPRE2 microtubule associated protein RP/EB family member 2 gene DOID:630 genetic disease ISO RGD:1344538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25954003|PMID:27618451|PMID:28490743 11868215 MAPRE2 microtubule associated protein RP/EB family member 2 gene DOID:9008582 Developmental Disease ISO RGD:1344538 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:26637975 11868235 MFAP1 microfibril associated protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1321226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11868235 MFAP1 microfibril associated protein 1 gene DOID:630 genetic disease ISO RGD:1321226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868235 MFAP1 microfibril associated protein 1 gene DOID:9256 colorectal cancer ISO RGD:1321226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11868248 LOC100988711 misato mitochondrial distribution and morphology regulator 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11868248 LOC100988711 misato mitochondrial distribution and morphology regulator 1 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1602702 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532|PMID:30684668|PMID:31463572 11868248 LOC100988711 misato mitochondrial distribution and morphology regulator 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1602702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11868248 LOC100988711 misato mitochondrial distribution and morphology regulator 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1602702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11868248 LOC100988711 misato mitochondrial distribution and morphology regulator 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1602702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11868248 LOC100988711 misato mitochondrial distribution and morphology regulator 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1602702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11868248 LOC100988711 misato mitochondrial distribution and morphology regulator 1 gene DOID:5812 MHC class II deficiency ISO RGD:1602702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11868248 LOC100988711 misato mitochondrial distribution and morphology regulator 1 gene DOID:630 genetic disease ISO RGD:1602702 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28544275|PMID:31463572|PMID:31607746|PMID:33222031 11868248 LOC100988711 misato mitochondrial distribution and morphology regulator 1 gene DOID:9007424 Mitochondrial Myopathy, and Ataxia ISO RGD:1602702 D RGD:7240710 20190315 OMIM 11868248 LOC100988711 misato mitochondrial distribution and morphology regulator 1 gene DOID:9007424 Mitochondrial Myopathy, and Ataxia ISO RGD:1602702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MSTO1-related disorder | ClinVar Annotator: match by term: MYOPATHY, MITOCHONDRIAL, AND ATAXIA PMID:25741868|PMID:28492532|PMID:28544275|PMID:28554942|PMID:29339779|PMID:30684668|PMID:31463572|PMID:31607746|PMID:33222031 11868248 LOC100988711 misato mitochondrial distribution and morphology regulator 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11868266 LRRC26 leucine rich repeat containing 26 gene DOID:0050777 Joubert syndrome ISO RGD:1603823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11868266 LRRC26 leucine rich repeat containing 26 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1603823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 11868266 LRRC26 leucine rich repeat containing 26 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1603823 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 11868266 LRRC26 leucine rich repeat containing 26 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1603823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11868266 LRRC26 leucine rich repeat containing 26 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1603823 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11868266 LRRC26 leucine rich repeat containing 26 gene DOID:0081097 Rafiq syndrome ISO RGD:1603823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11868266 LRRC26 leucine rich repeat containing 26 gene DOID:1826 epilepsy ISO RGD:1603823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11868266 LRRC26 leucine rich repeat containing 26 gene DOID:630 genetic disease ISO RGD:1603823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868266 LRRC26 leucine rich repeat containing 26 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1603823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11868272 SCAF1 SR-related CTD associated factor 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:733391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11868272 SCAF1 SR-related CTD associated factor 1 gene DOID:12849 autistic disorder ISO RGD:733391 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:35982159 11868272 SCAF1 SR-related CTD associated factor 1 gene DOID:630 genetic disease ISO RGD:733391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868288 INSM1 INSM transcriptional repressor 1 gene DOID:5409 lung small cell carcinoma ISO RGD:1319934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23582323 11868288 INSM1 INSM transcriptional repressor 1 gene DOID:630 genetic disease ISO RGD:1319934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868296 ZNF821 zinc finger protein 821 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1604613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11868296 ZNF821 zinc finger protein 821 gene DOID:630 genetic disease ISO RGD:1604613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868328 SLC30A10 solute carrier family 30 member 10 gene DOID:0050439 Usher syndrome ISO RGD:1604615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 11868328 SLC30A10 solute carrier family 30 member 10 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1604615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 11868328 SLC30A10 solute carrier family 30 member 10 gene DOID:0080536 hypermanganesemia with dystonia 1 ISO RGD:1604615 D RGD:7240710 20180509 OMIM 11868328 SLC30A10 solute carrier family 30 member 10 gene DOID:0080536 hypermanganesemia with dystonia 1 ISO RGD:1604615 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hypermanganesemia with dystonia, polycythemia, and cirrhosis PMID:11040156|PMID:18392750|PMID:22341971|PMID:22341972|PMID:22934317|PMID:25741868|PMID:27117033|PMID:28492532|PMID:30272946|PMID:31594250|PMID:34315874 11868328 SLC30A10 solute carrier family 30 member 10 gene DOID:0080855 Parkinsonism ISO RGD:1604615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26220508 11868328 SLC30A10 solute carrier family 30 member 10 gene DOID:13580 cholestasis ISO RGD:1604615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 11868328 SLC30A10 solute carrier family 30 member 10 gene DOID:14330 Parkinson's disease ISO RGD:1604615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25149416 11868328 SLC30A10 solute carrier family 30 member 10 gene DOID:1459 hypothyroidism ISO RGD:1604615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28860195 11868328 SLC30A10 solute carrier family 30 member 10 gene DOID:1540 parathyroid carcinoma ISO RGD:1604615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11868328 SLC30A10 solute carrier family 30 member 10 gene DOID:5082 liver cirrhosis ISO RGD:1604615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22926781 11868328 SLC30A10 solute carrier family 30 member 10 gene DOID:543 dystonia ISO RGD:1604615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22926781 11868328 SLC30A10 solute carrier family 30 member 10 gene DOID:630 genetic disease ISO RGD:1604615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11868328 SLC30A10 solute carrier family 30 member 10 gene DOID:8432 polycythemia ISO RGD:1604615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22926781 11868328 SLC30A10 solute carrier family 30 member 10 gene DOID:9000304 Manganese Poisoning ISO RGD:1604615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28860195|PMID:29429640 11868328 SLC30A10 solute carrier family 30 member 10 gene DOID:9006949 Martsolf Syndrome ISO RGD:1604615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 11868328 SLC30A10 solute carrier family 30 member 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11868342 SRP19 signal recognition particle 19 gene DOID:0060479 Shwachman-Diamond syndrome ISO RGD:1318204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 11868342 SRP19 signal recognition particle 19 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:11257105|PMID:12136240|PMID:14672538|PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11868342 SRP19 signal recognition particle 19 gene DOID:630 genetic disease ISO RGD:1318204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868342 SRP19 signal recognition particle 19 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11868342 SRP19 signal recognition particle 19 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11868353 NKPD1 NTPase KAP family P-loop domain containing 1 gene DOID:630 genetic disease ISO RGD:1323472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868362 ATG9A autophagy related 9A gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1353328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11868362 ATG9A autophagy related 9A gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1353328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11868362 ATG9A autophagy related 9A gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1353328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11868362 ATG9A autophagy related 9A gene DOID:1148 polydactyly ISO RGD:1353328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 11868362 ATG9A autophagy related 9A gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1353328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11868362 ATG9A autophagy related 9A gene DOID:630 genetic disease ISO RGD:1353328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868362 ATG9A autophagy related 9A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11868455 PLEKHA7 pleckstrin homology domain containing A7 gene DOID:0050851 glomerulosclerosis ISO RGD:1598216 D RGD:9068941 20200609 RGD PMID:25136115|REF_RGD_ID:11079199 11868455 PLEKHA7 pleckstrin homology domain containing A7 gene DOID:0050851 glomerulosclerosis ameliorates ISO XCO:0000795 D RGD:9068941 20220204 RGD compared to wild type PMID:25136115|REF_RGD_ID:11079199 11868455 PLEKHA7 pleckstrin homology domain containing A7 gene DOID:1059 intellectual disability ISO RGD:1350975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11868455 PLEKHA7 pleckstrin homology domain containing A7 gene DOID:10763 hypertension ameliorates ISO XCO:0000795 D RGD:9068941 20210416 RGD PMID:25136115|REF_RGD_ID:11079199 11868455 PLEKHA7 pleckstrin homology domain containing A7 gene DOID:13550 angle-closure glaucoma ISO RGD:1350975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22922875|PMID:27064256 11868455 PLEKHA7 pleckstrin homology domain containing A7 gene DOID:630 genetic disease ISO RGD:1350975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868455 PLEKHA7 pleckstrin homology domain containing A7 gene DOID:9003139 Cardiac Fibrosis ISO RGD:1598216 D RGD:9068941 20200609 RGD PMID:25136115|REF_RGD_ID:11079199 11868455 PLEKHA7 pleckstrin homology domain containing A7 gene DOID:9003139 Cardiac Fibrosis ameliorates ISO XCO:0000795 D RGD:9068941 20220204 RGD compared to wild type PMID:25136115|REF_RGD_ID:11079199 11868455 PLEKHA7 pleckstrin homology domain containing A7 gene DOID:9296 cleft lip ISO RGD:1350975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft lip with or without cleft palate PMID:29805042 11868480 YARS2 tyrosyl-tRNA synthetase 2 gene DOID:0070347 encephalopathy due to defective mitochondrial and peroxisomal fission 1 ISO RGD:1606290 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 PMID:25741868 11868480 YARS2 tyrosyl-tRNA synthetase 2 gene DOID:0080099 myopathy, lactic acidosis, and sideroblastic anemia ISO RGD:1606290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia PMID:25741868|PMID:28492532 11868480 YARS2 tyrosyl-tRNA synthetase 2 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1606290 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:27066507|PMID:28492532 11868480 YARS2 tyrosyl-tRNA synthetase 2 gene DOID:0111186 myopathy, lactic acidosis, and sideroblastic anemia 2 ISO RGD:1606290 D RGD:7240710 20190320 OMIM 11868480 YARS2 tyrosyl-tRNA synthetase 2 gene DOID:0111186 myopathy, lactic acidosis, and sideroblastic anemia 2 ISO RGD:1606290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 PMID:12075011|PMID:20598274|PMID:22504945|PMID:23918765|PMID:24088041|PMID:24344687|PMID:24430573|PMID:25638461|PMID:25741868|PMID:26633545|PMID:26944241|PMID:28492532|PMID:30026338|PMID:33144682 11868480 YARS2 tyrosyl-tRNA synthetase 2 gene DOID:0111438 optic atrophy 5 ISO RGD:1606290 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Optic atrophy 5 PMID:25741868 11868480 YARS2 tyrosyl-tRNA synthetase 2 gene DOID:630 genetic disease ISO RGD:1606290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11868480 YARS2 tyrosyl-tRNA synthetase 2 gene DOID:700 mitochondrial metabolism disease ISO RGD:1606290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:28812649 11868490 BORCS6 BLOC-1 related complex subunit 6 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1603302 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11868490 BORCS6 BLOC-1 related complex subunit 6 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1603302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 11868490 BORCS6 BLOC-1 related complex subunit 6 gene DOID:12177 common variable immunodeficiency ISO RGD:1603302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11868490 BORCS6 BLOC-1 related complex subunit 6 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603302 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11868490 BORCS6 BLOC-1 related complex subunit 6 gene DOID:2729 dyskeratosis congenita ISO RGD:1603302 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11868490 BORCS6 BLOC-1 related complex subunit 6 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1603302 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 11868490 BORCS6 BLOC-1 related complex subunit 6 gene DOID:630 genetic disease ISO RGD:1603302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868510 DCTN2 dynactin subunit 2 gene DOID:0050890 synucleinopathy ISO RGD:1303182 D RGD:9068941 20200609 RGD PMID:19295143|REF_RGD_ID:11049591 11868510 DCTN2 dynactin subunit 2 gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:1352908 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U PMID:28492532 11868510 DCTN2 dynactin subunit 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1352908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:26517670 11868510 DCTN2 dynactin subunit 2 gene DOID:607 paraplegia ISO RGD:1352908 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11868510 DCTN2 dynactin subunit 2 gene DOID:630 genetic disease ISO RGD:1352908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868510 DCTN2 dynactin subunit 2 gene DOID:6846 familial melanoma ISO RGD:1352908 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 11868510 DCTN2 dynactin subunit 2 gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1352908 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease PMID:28492532 11868533 OGFOD2 2-oxoglutarate and iron dependent oxygenase domain containing 2 gene DOID:630 genetic disease ISO RGD:1606222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868560 KDR kinase insert domain receptor gene DOID:0001816 angiosarcoma ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 11868560 KDR kinase insert domain receptor gene DOID:0002116 pterygium ISO RGD:731018 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:conjunctiva: PMID:15885787|REF_RGD_ID:8549762 11868560 KDR kinase insert domain receptor gene DOID:0002116 pterygium disease_progression ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:conjunctiva: PMID:23376569|REF_RGD_ID:8549754 11868560 KDR kinase insert domain receptor gene DOID:0050861 colorectal adenocarcinoma severity ISO RGD:731018 D RGD:9068941 20210507 RGD protein:altered phosphorylation:colon PMID:25372416|REF_RGD_ID:126848811 11868560 KDR kinase insert domain receptor gene DOID:0050861 colorectal adenocarcinoma treatment ISO RGD:731018 D RGD:9068941 20210507 RGD PMID:26325365|REF_RGD_ID:11529678 11868560 KDR kinase insert domain receptor gene DOID:0050865 tongue squamous cell carcinoma treatment ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:19380367|REF_RGD_ID:8551769 11868560 KDR kinase insert domain receptor gene DOID:0050904 salivary gland carcinoma disease_progression ISO RGD:731018 D RGD:9068941 20210507 RGD PMID:26498950|REF_RGD_ID:126907998 11868560 KDR kinase insert domain receptor gene DOID:0060108 brain glioma ISO RGD:731018 D RGD:9068941 20220310 RGD protein:increased expression:brain (human) PMID:33900414|REF_RGD_ID:151660356 11868560 KDR kinase insert domain receptor gene DOID:0060180 colitis ISO RGD:2965 D RGD:9068941 20200609 RGD protein:increased expression:colon: PMID:22261574|REF_RGD_ID:7207796 11868560 KDR kinase insert domain receptor gene DOID:0060669 cerebral cavernous malformation ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell: PMID:11220380|REF_RGD_ID:8551824 11868560 KDR kinase insert domain receptor gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell: PMID:11220380|REF_RGD_ID:8551824 11868560 KDR kinase insert domain receptor gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:731018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 11868560 KDR kinase insert domain receptor gene DOID:0080158 herpes simplex virus keratitis ISO RGD:10836 D RGD:9068941 20200609 RGD protein:increased expression:cornea: PMID:16951377|REF_RGD_ID:8549742 11868560 KDR kinase insert domain receptor gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:16951377|REF_RGD_ID:8549742 11868560 KDR kinase insert domain receptor gene DOID:10283 prostate cancer ISO RGD:731018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11868560 KDR kinase insert domain receptor gene DOID:10487 Hirschsprung's disease ISO RGD:731018 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:24728327|PMID:28492532 11868560 KDR kinase insert domain receptor gene DOID:10534 stomach cancer disease_progression ISO RGD:731018 D RGD:9068941 20210507 RGD DNA:SNP: :rs1870377 (human) PMID:30380970|REF_RGD_ID:126907999 11868560 KDR kinase insert domain receptor gene DOID:10534 stomach cancer no_association ISO RGD:731018 D RGD:9068941 20210507 RGD DNA:SNPs: :rs7667298, rs2071559, rs2305948 (human) PMID:30380970|REF_RGD_ID:126907999 11868560 KDR kinase insert domain receptor gene DOID:10763 hypertension ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:15838270|REF_RGD_ID:5684418 11868560 KDR kinase insert domain receptor gene DOID:10763 hypertension treatment ISO RGD:731018 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.H472Q(human) PMID:20630084|REF_RGD_ID:8552374 11868560 KDR kinase insert domain receptor gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:731018 D RGD:9068941 20200609 RGD DNA:SNP: :rs2071559(human) PMID:22919317|REF_RGD_ID:8549752 11868560 KDR kinase insert domain receptor gene DOID:11054 urinary bladder cancer ISO RGD:731018 D RGD:9068941 20200609 RGD PMID:12215294|REF_RGD_ID:2301758 11868560 KDR kinase insert domain receptor gene DOID:11054 urinary bladder cancer severity ISO RGD:731018 D RGD:9068941 20200609 RGD protein::tumor:expression in >50% of non-endothelial cells associated with increased survival (p=0.0119) PMID:12940780|REF_RGD_ID:2291949 11868560 KDR kinase insert domain receptor gene DOID:11132 prostatic hypertrophy ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:15999482|REF_RGD_ID:2292079 11868560 KDR kinase insert domain receptor gene DOID:1115 sarcoma ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:uterus PMID:15823121|REF_RGD_ID:2289964 11868560 KDR kinase insert domain receptor gene DOID:11212 hydrophthalmos ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:22426483|REF_RGD_ID:8549773 11868560 KDR kinase insert domain receptor gene DOID:11382 corneal neovascularization treatment ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:18263815|PMID:21691137|REF_RGD_ID:8549714|REF_RGD_ID:8549755 11868560 KDR kinase insert domain receptor gene DOID:13025 retinopathy of prematurity ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:21731737|REF_RGD_ID:5684426 11868560 KDR kinase insert domain receptor gene DOID:13025 retinopathy of prematurity ISO RGD:2965 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:15039215|REF_RGD_ID:8549753 11868560 KDR kinase insert domain receptor gene DOID:13025 retinopathy of prematurity ISO RGD:731018 D RGD:9068941 20200609 RGD associated with premature birth;protein:increased expression:plasma: PMID:18408080|REF_RGD_ID:8549746 11868560 KDR kinase insert domain receptor gene DOID:13025 retinopathy of prematurity treatment ISO RGD:2965 D RGD:9068941 20221117 RGD PMID:30652694|REF_RGD_ID:155663485 11868560 KDR kinase insert domain receptor gene DOID:13812 adhesions of uterus severity ISO RGD:731018 D RGD:9068941 20210514 RGD mRNA, protein:increased expression:endometrium PMID:31596310|REF_RGD_ID:126925216 11868560 KDR kinase insert domain receptor gene DOID:13812 adhesions of uterus treatment ISO RGD:2965 D RGD:9068941 20210514 RGD PMID:31596310|REF_RGD_ID:126925216 11868560 KDR kinase insert domain receptor gene DOID:1475 lymphangioma ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:;lymphatic endothelial cell: PMID:17584927|REF_RGD_ID:8552338 11868560 KDR kinase insert domain receptor gene DOID:1520 colon carcinoma ISO RGD:731018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon 11868560 KDR kinase insert domain receptor gene DOID:1520 colon carcinoma treatment ISO RGD:10836 D RGD:9068941 20210514 RGD PMID:12415261|REF_RGD_ID:126925192 11868560 KDR kinase insert domain receptor gene DOID:1577 limited scleroderma ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19886888|REF_RGD_ID:8551850 11868560 KDR kinase insert domain receptor gene DOID:1580 diffuse scleroderma ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19886888|REF_RGD_ID:8551850 11868560 KDR kinase insert domain receptor gene DOID:1612 breast cancer ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:tumor:increased activated KDR in mammary carcinomas vs adjacent normal tissues PMID:10371349|REF_RGD_ID:2291951 11868560 KDR kinase insert domain receptor gene DOID:1679 cystitis ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:21412823|REF_RGD_ID:5684428 11868560 KDR kinase insert domain receptor gene DOID:1749 squamous cell carcinoma ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:16251423|REF_RGD_ID:8551848 11868560 KDR kinase insert domain receptor gene DOID:1793 pancreatic cancer ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12385004 11868560 KDR kinase insert domain receptor gene DOID:1793 pancreatic cancer ISO RGD:731018 D RGD:9068941 20200609 RGD PMID:19930156|REF_RGD_ID:5684397 11868560 KDR kinase insert domain receptor gene DOID:1875 impotence ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:16422887|REF_RGD_ID:5684417 11868560 KDR kinase insert domain receptor gene DOID:1909 melanoma ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21730877|REF_RGD_ID:8552360 11868560 KDR kinase insert domain receptor gene DOID:1909 melanoma disease_progression ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression, altered expression:skin: PMID:15714119|REF_RGD_ID:8551851 11868560 KDR kinase insert domain receptor gene DOID:1909 melanoma treatment ISO RGD:10836 D RGD:9068941 20210514 RGD PMID:12415261|REF_RGD_ID:126925192 11868560 KDR kinase insert domain receptor gene DOID:1936 atherosclerosis treatment ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:17303776|REF_RGD_ID:8551768 11868560 KDR kinase insert domain receptor gene DOID:2256 osteochondrodysplasia ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17954590 11868560 KDR kinase insert domain receptor gene DOID:2316 brain ischemia ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:18951929|REF_RGD_ID:5684407 11868560 KDR kinase insert domain receptor gene DOID:2349 arteriosclerosis ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:15665766|REF_RGD_ID:1581706 11868560 KDR kinase insert domain receptor gene DOID:2349 arteriosclerosis ISO RGD:731018 D RGD:9068941 20200609 RGD PMID:16873710|REF_RGD_ID:1581713 11868560 KDR kinase insert domain receptor gene DOID:2526 prostate adenocarcinoma ISO RGD:2965 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:20808233|REF_RGD_ID:5684541 11868560 KDR kinase insert domain receptor gene DOID:2526 prostate adenocarcinoma ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:tumor:relative to benign prostatic hypertrophy (BPH) tissue PMID:17491265|REF_RGD_ID:2291925 11868560 KDR kinase insert domain receptor gene DOID:264 hemangiopericytoma ISO RGD:731018 D RGD:9068941 20221110 RGD mRNA:increased expression:anterior temporal lobe PMID:26951238|REF_RGD_ID:155663351 11868560 KDR kinase insert domain receptor gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:731018 D RGD:9068941 20200609 RGD PMID:18645275|REF_RGD_ID:2301755 11868560 KDR kinase insert domain receptor gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:731018 D RGD:9068941 20200609 RGD transitional cell cancer of the bladder; protein:increased expression:tumor:correlated with stage (p=0.05) and invasion into muscle (p<0.01) PMID:16515971|REF_RGD_ID:2291934 11868560 KDR kinase insert domain receptor gene DOID:2773 contact dermatitis ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:15500639|REF_RGD_ID:5684424 11868560 KDR kinase insert domain receptor gene DOID:2841 asthma ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:20921519|REF_RGD_ID:5684385 11868560 KDR kinase insert domain receptor gene DOID:2841 asthma ISO RGD:731018 D RGD:9068941 20200609 RGD associated with Rhinitis,Allergic,Seasonal;protein:increased expression:nasal cavity of mucosa: PMID:17651148|REF_RGD_ID:8551771 11868560 KDR kinase insert domain receptor gene DOID:289 endometriosis ISO RGD:2965 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:20056215|REF_RGD_ID:5135061 11868560 KDR kinase insert domain receptor gene DOID:299 adenocarcinoma ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 11868560 KDR kinase insert domain receptor gene DOID:3042 allergic contact dermatitis ISO RGD:731018 D RGD:9068941 20200609 RGD mRNA:protein:skin: PMID:7876550|REF_RGD_ID:7421586 11868560 KDR kinase insert domain receptor gene DOID:3068 glioblastoma treatment ISO RGD:731018 D RGD:9068941 20210507 RGD PMID:26325365|REF_RGD_ID:11529678 11868560 KDR kinase insert domain receptor gene DOID:3070 high grade glioma disease_progression ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:20501615|REF_RGD_ID:5684393 11868560 KDR kinase insert domain receptor gene DOID:3070 high grade glioma severity ISO RGD:731018 D RGD:9068941 20200609 RGD PMID:10506722|REF_RGD_ID:5684425 11868560 KDR kinase insert domain receptor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15681497|REF_RGD_ID:5684420 11868560 KDR kinase insert domain receptor gene DOID:3179 inverted papilloma ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:inferior nasal concha: PMID:12541477|REF_RGD_ID:8551779 11868560 KDR kinase insert domain receptor gene DOID:3192 neurilemmoma ISO RGD:731018 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain: PMID:17570036|REF_RGD_ID:8552334 11868560 KDR kinase insert domain receptor gene DOID:3307 teratoma ISO RGD:731018 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 11868560 KDR kinase insert domain receptor gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731018 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:16410746|REF_RGD_ID:1580568 11868560 KDR kinase insert domain receptor gene DOID:3328 temporal lobe epilepsy ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17533168 11868560 KDR kinase insert domain receptor gene DOID:3459 breast carcinoma no_association ISO RGD:731018 D RGD:9068941 20200609 RGD protein::tumor:no correlation with survival, metastasis or relapse in univariate analysis PMID:15753992|REF_RGD_ID:2291952 11868560 KDR kinase insert domain receptor gene DOID:3459 breast carcinoma severity ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:tumor:correlated with nuclear grade of invasive carcinomas (p=0.003) PMID:12378509|REF_RGD_ID:2291950 11868560 KDR kinase insert domain receptor gene DOID:3512 neurofibrosarcoma ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:10554031|REF_RGD_ID:8552377 11868560 KDR kinase insert domain receptor gene DOID:3905 lung carcinoma treatment ISO RGD:10836 D RGD:9068941 20210514 RGD PMID:16763608|PMID:20118536|REF_RGD_ID:126925177|REF_RGD_ID:126925190 11868560 KDR kinase insert domain receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:731018 D RGD:9068941 20210514 RGD protein:increased expression:plasma PMID:21481963|REF_RGD_ID:126925199 11868560 KDR kinase insert domain receptor gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:731018 D RGD:9068941 20210507 RGD DNA:CNVs PMID:21724587|REF_RGD_ID:126908001 11868560 KDR kinase insert domain receptor gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:731018 D RGD:9068941 20210514 RGD PMID:16697074|REF_RGD_ID:126925189 11868560 KDR kinase insert domain receptor gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:731018 D RGD:9068941 20210514 RGD DNA, protein:CNVs, increased expression:lung PMID:25561764|REF_RGD_ID:126925188 11868560 KDR kinase insert domain receptor gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:731018 D RGD:9068941 20210514 RGD DNA:SNP:promoter:���906T>C (rs2071559) (human) PMID:25975224|REF_RGD_ID:126925198 11868560 KDR kinase insert domain receptor gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:10836 D RGD:9068941 20210514 RGD PMID:12415261|REF_RGD_ID:126925192 11868560 KDR kinase insert domain receptor gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:731018 D RGD:9068941 20220310 RGD PMID:32626543|REF_RGD_ID:151665104 11868560 KDR kinase insert domain receptor gene DOID:418 systemic scleroderma ISO RGD:731018 D RGD:9068941 20200609 RGD protein:decreased expression:bone marrow: PMID:22271757|REF_RGD_ID:8551843 11868560 KDR kinase insert domain receptor gene DOID:418 systemic scleroderma ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:21865112|REF_RGD_ID:8552335 11868560 KDR kinase insert domain receptor gene DOID:4448 macular degeneration ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:21731737|REF_RGD_ID:5684426 11868560 KDR kinase insert domain receptor gene DOID:4448 macular degeneration treatment ISO RGD:731018 D RGD:9068941 20200609 RGD DNA:SNPs:: rs4576072,rs6828477(human) PMID:24365177|REF_RGD_ID:8549717 11868560 KDR kinase insert domain receptor gene DOID:4449 macular retinal edema ISO RGD:731018 D RGD:9068941 20200609 RGD associated with retinal vein occlusion;protein:increased expression:vitreous humor PMID:23411880|REF_RGD_ID:8549772 11868560 KDR kinase insert domain receptor gene DOID:4450 renal cell carcinoma ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:17332933|PMID:17653245|REF_RGD_ID:2301756|REF_RGD_ID:8552363 11868560 KDR kinase insert domain receptor gene DOID:4450 renal cell carcinoma treatment ISO RGD:10836 D RGD:9068941 20210514 RGD PMID:16763608|REF_RGD_ID:126925190 11868560 KDR kinase insert domain receptor gene DOID:4511 breast angiosarcoma ISO RGD:731018 D RGD:9068941 20220310 RGD DNA:mutation:multiple (human) PMID:32123305|REF_RGD_ID:151665102 11868560 KDR kinase insert domain receptor gene DOID:4676 uremia ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 11868560 KDR kinase insert domain receptor gene DOID:4905 pancreatic carcinoma treatment ISO RGD:731018 D RGD:9068941 20210507 RGD PMID:17414626|REF_RGD_ID:126848809 11868560 KDR kinase insert domain receptor gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:731018 D RGD:9068941 20210521 RGD DNA:SNP:5'utr: (rs11941492) (human) PMID:21472143|REF_RGD_ID:126925218 11868560 KDR kinase insert domain receptor gene DOID:5082 liver cirrhosis disease_progression ISO RGD:731018 D RGD:9068941 20210507 RGD associated with Chronic Hepatitis PMID:27323788|REF_RGD_ID:126908000 11868560 KDR kinase insert domain receptor gene DOID:5419 schizophrenia ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21647420 11868560 KDR kinase insert domain receptor gene DOID:5425 ovarian hyperstimulation syndrome treatment ISO RGD:2965 D RGD:9068941 20210514 RGD PMID:25151950|REF_RGD_ID:126925217 11868560 KDR kinase insert domain receptor gene DOID:5426 primary ovarian insufficiency ISO RGD:731018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:24728327|PMID:25741868 11868560 KDR kinase insert domain receptor gene DOID:5844 myocardial infarction ISO RGD:731018 D RGD:9068941 20200609 RGD PMID:16698275|REF_RGD_ID:1581717 11868560 KDR kinase insert domain receptor gene DOID:5844 myocardial infarction treatment ISO RGD:2965 D RGD:9068941 20210514 RGD PMID:25936512|REF_RGD_ID:126925214 11868560 KDR kinase insert domain receptor gene DOID:6039 uveal melanoma disease_progression ISO RGD:731018 D RGD:9068941 20200609 RGD PMID:21984395|REF_RGD_ID:8549718 11868560 KDR kinase insert domain receptor gene DOID:630 genetic disease ISO RGD:731018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11868560 KDR kinase insert domain receptor gene DOID:684 hepatocellular carcinoma ISO RGD:731018 D RGD:9068941 20210507 RGD associated with alcoholic liver cirrhosis;DNA:SNP: :1416A>T (human) PMID:24445728|REF_RGD_ID:126848814 11868560 KDR kinase insert domain receptor gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:731018 D RGD:9068941 20210507 RGD protein:decreased expression:liver PMID:25333267|REF_RGD_ID:126848812 11868560 KDR kinase insert domain receptor gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:731018 D RGD:9068941 20210507 RGD protein:increased expression:liver PMID:19177438|REF_RGD_ID:126848810 11868560 KDR kinase insert domain receptor gene DOID:684 hepatocellular carcinoma treatment ISO RGD:731018 D RGD:9068941 20210507 RGD PMID:23660204|REF_RGD_ID:126848813 11868560 KDR kinase insert domain receptor gene DOID:684 hepatocellular carcinoma treatment ISO RGD:731018 D RGD:9068941 20210507 RGD DNA:SNPs: :rs1870377, rs2071559, rs2305948 (human) PMID:25182707|REF_RGD_ID:126848806 11868560 KDR kinase insert domain receptor gene DOID:687 hepatoblastoma ISO RGD:731018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 11868560 KDR kinase insert domain receptor gene DOID:7736 retinal telangiectasia ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression,increased phosphorylation:eye: PMID:23221067|REF_RGD_ID:8549759 11868560 KDR kinase insert domain receptor gene DOID:8577 ulcerative colitis ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:19013462|REF_RGD_ID:5684406 11868560 KDR kinase insert domain receptor gene DOID:8717 decubitus ulcer ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:12692851|REF_RGD_ID:8551845 11868560 KDR kinase insert domain receptor gene DOID:8778 Crohn's disease ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:19013462|REF_RGD_ID:5684406 11868560 KDR kinase insert domain receptor gene DOID:8893 psoriasis ISO RGD:731018 D RGD:9068941 20200609 RGD mRNA:increased expression:skin: PMID:20071151|REF_RGD_ID:8552376 11868560 KDR kinase insert domain receptor gene DOID:8893 psoriasis treatment ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:23732650|REF_RGD_ID:8552361 11868560 KDR kinase insert domain receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:2965 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord, astrocyte, macrophage PMID:17409380|REF_RGD_ID:5684414 11868560 KDR kinase insert domain receptor gene DOID:9000081 Lymphatic Metastasis treatment ISO RGD:10836 D RGD:9068941 20200609 RGD associated with Squamous Cell Carcinoma of the Tongue PMID:19380367|REF_RGD_ID:8551769 11868560 KDR kinase insert domain receptor gene DOID:9000099 Experimental Colitis ISO RGD:10836 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:19013462|REF_RGD_ID:5684406 11868560 KDR kinase insert domain receptor gene DOID:9000117 Esophageal Neoplasms ISO RGD:731018 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:21472143|PMID:35917945 11868560 KDR kinase insert domain receptor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:19888452|REF_RGD_ID:5684399 11868560 KDR kinase insert domain receptor gene DOID:9000528 Coronary Disease ISO RGD:731018 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ventricle myocardium PMID:16139132|REF_RGD_ID:2313728 11868560 KDR kinase insert domain receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:731018 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell PMID:17465216|REF_RGD_ID:2301757 11868560 KDR kinase insert domain receptor gene DOID:9000998 Brain Injuries ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:19733172|REF_RGD_ID:5684402 11868560 KDR kinase insert domain receptor gene DOID:9000998 Brain Injuries ISO RGD:2965 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:21307798|REF_RGD_ID:5684382 11868560 KDR kinase insert domain receptor gene DOID:9001044 Choroidal Neovascularization ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:22997228|REF_RGD_ID:8549738 11868560 KDR kinase insert domain receptor gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:19085383|REF_RGD_ID:8549713 11868560 KDR kinase insert domain receptor gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:12937991|PMID:15249365|REF_RGD_ID:8549716|REF_RGD_ID:8549747 11868560 KDR kinase insert domain receptor gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:731018 D RGD:9068941 20200609 RGD PMID:18436847|REF_RGD_ID:8549741 11868560 KDR kinase insert domain receptor gene DOID:9001472 Nasal Polyps ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:inferior nasal concha: PMID:12515274|REF_RGD_ID:8551781 11868560 KDR kinase insert domain receptor gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11956651 11868560 KDR kinase insert domain receptor gene DOID:9001795 Lathyrism ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:20058324|REF_RGD_ID:5684396 11868560 KDR kinase insert domain receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18630688 11868560 KDR kinase insert domain receptor gene DOID:9002189 High Myopia ISO RGD:731018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe Myopia PMID:26422291|PMID:28492532 11868560 KDR kinase insert domain receptor gene DOID:9002265 Kidney Neoplasms ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:12036917|REF_RGD_ID:2301759 11868560 KDR kinase insert domain receptor gene DOID:9002676 Cerebral Hemorrhage ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17888890 11868560 KDR kinase insert domain receptor gene DOID:9002762 Ovarian Neoplasms ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:epithelial ovarian carcinoma cells PMID:16835828|REF_RGD_ID:2291926 11868560 KDR kinase insert domain receptor gene DOID:9002762 Ovarian Neoplasms ISO RGD:731018 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35917945 11868560 KDR kinase insert domain receptor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:19233483|REF_RGD_ID:5684404 11868560 KDR kinase insert domain receptor gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:17349140|REF_RGD_ID:8549715 11868560 KDR kinase insert domain receptor gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:15951738|REF_RGD_ID:1581593 11868560 KDR kinase insert domain receptor gene DOID:9002928 Colonic Neoplasms ISO RGD:10836 D RGD:9068941 20200609 RGD associated with Colitis;mRNA, protein:increased expression:colon PMID:21098094|REF_RGD_ID:5684533 11868560 KDR kinase insert domain receptor gene DOID:9003204 Neovascularization, Pathologic ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17533168 11868560 KDR kinase insert domain receptor gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:731018 D RGD:9068941 20200609 RGD PMID:11218896|REF_RGD_ID:2301761 11868560 KDR kinase insert domain receptor gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:21277350|REF_RGD_ID:5684383 11868560 KDR kinase insert domain receptor gene DOID:9003871 Venous Thrombosis ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26600200 11868560 KDR kinase insert domain receptor gene DOID:9004009 Reperfusion Injury ISO RGD:2965 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:17402857|REF_RGD_ID:5684415 11868560 KDR kinase insert domain receptor gene DOID:9004009 Reperfusion Injury ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 11868560 KDR kinase insert domain receptor gene DOID:9004059 Eye Neoplasms ISO RGD:731018 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35917945 11868560 KDR kinase insert domain receptor gene DOID:9004090 Tufted Angioma ISO RGD:731018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tufted angioma PMID:26422291|PMID:28492532 11868560 KDR kinase insert domain receptor gene DOID:9004265 Endometrioid Carcinomas severity ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression, increased phosphorylation:tumor:pKDR expression associated with poor overall survival (P=0.009) PMID:16557278|REF_RGD_ID:2291929 11868560 KDR kinase insert domain receptor gene DOID:9004283 Transplant Rejection ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:22997228|REF_RGD_ID:8549738 11868560 KDR kinase insert domain receptor gene DOID:9004610 Acute Lung Injury ISO RGD:2965 D RGD:9068941 20200609 RGD associated with Endotoxemia;mRNA, protein:decreased expression:lung PMID:21528367|REF_RGD_ID:5684427 11868560 KDR kinase insert domain receptor gene DOID:9005172 Lung Neoplasms ISO RGD:731018 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35917945 11868560 KDR kinase insert domain receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2965 D RGD:9068941 20200609 RGD inhibition prevents DMBA-induced atypical ductal hyperplasia and carcinoma in situ PMID:15170218|REF_RGD_ID:2291936 11868560 KDR kinase insert domain receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731018 D RGD:9068941 20200609 RGD PMID:19888452|REF_RGD_ID:5684399 11868560 KDR kinase insert domain receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10836 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle PMID:16816123|REF_RGD_ID:2313725 11868560 KDR kinase insert domain receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2965 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:16741021|REF_RGD_ID:2313724 11868560 KDR kinase insert domain receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2965 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:22121831|REF_RGD_ID:5684538 11868560 KDR kinase insert domain receptor gene DOID:9005708 Hand-Foot Syndrome treatment ISO RGD:731018 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.H472Q(human) PMID:20630084|REF_RGD_ID:8552374 11868560 KDR kinase insert domain receptor gene DOID:9005968 Neuralgia ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:20705122|REF_RGD_ID:5684389 11868560 KDR kinase insert domain receptor gene DOID:9007096 Stroke ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:20101028|REF_RGD_ID:5684395 11868560 KDR kinase insert domain receptor gene DOID:9007102 Myocardial Ischemia ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11868560 KDR kinase insert domain receptor gene DOID:9007715 Endometrial Neoplasms ISO RGD:731018 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:12485477|REF_RGD_ID:2301252 11868560 KDR kinase insert domain receptor gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:731018 D RGD:9068941 20200609 RGD PMID:11745191|REF_RGD_ID:2301760 11868560 KDR kinase insert domain receptor gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity of mucosa: PMID:17651148|REF_RGD_ID:8551771 11868560 KDR kinase insert domain receptor gene DOID:9008443 Colorectal Neoplasms ISO RGD:731018 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20346928|PMID:35917945 11868560 KDR kinase insert domain receptor gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:731018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY PMID:11807987|PMID:18931684|PMID:24033266|PMID:24728327 11868560 KDR kinase insert domain receptor gene DOID:9008660 Infantile Capillary Hemangioma susceptibility ISO RGD:731018 D RGD:7240710 20230517 OMIM 11868560 KDR kinase insert domain receptor gene DOID:9008821 Otitis Media with Effusion ISO RGD:2965 D RGD:9068941 20200609 RGD mRNA:increased expression:mucosa of the middle ear; PMID:12875575|REF_RGD_ID:8547977 11868560 KDR kinase insert domain receptor gene DOID:9008939 Breast Neoplasms ISO RGD:731018 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:20135347|PMID:35917945 11868560 KDR kinase insert domain receptor gene DOID:9008939 Breast Neoplasms treatment ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:14511401|REF_RGD_ID:8551844 11868560 KDR kinase insert domain receptor gene DOID:9256 colorectal cancer no_association ISO RGD:731018 D RGD:9068941 20210507 RGD DNA:SNPs:exons:rs1870377, rs2305948 (human) PMID:22182247|REF_RGD_ID:126848807 11868560 KDR kinase insert domain receptor gene DOID:9256 colorectal cancer treatment ISO RGD:731018 D RGD:9068941 20210507 RGD DNA:SNPs:promoter:rs10013228, rs2071559 (human) PMID:22182247|REF_RGD_ID:126848807 11868560 KDR kinase insert domain receptor gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:731018 D RGD:9068941 20210514 RGD PMID:16480593|REF_RGD_ID:126925191 11868560 KDR kinase insert domain receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:731018 D RGD:9068941 20200609 RGD protein:decreased expression:skin, blood vessel PMID:17898089|REF_RGD_ID:5684411 11868594 DACT3 dishevelled binding antagonist of beta catenin 3 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1601931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 11868594 DACT3 dishevelled binding antagonist of beta catenin 3 gene DOID:0110644 long QT syndrome 1 ISO RGD:1601931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:28492532 11868594 DACT3 dishevelled binding antagonist of beta catenin 3 gene DOID:1059 intellectual disability ISO RGD:1601931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11868594 DACT3 dishevelled binding antagonist of beta catenin 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1601931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11868594 DACT3 dishevelled binding antagonist of beta catenin 3 gene DOID:630 genetic disease ISO RGD:1601931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868603 ZNF571 zinc finger protein 571 gene DOID:630 genetic disease ISO RGD:1345171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868617 TEN1 TEN1 subunit of CST complex gene DOID:0050797 peroxisomal acyl-CoA oxidase deficiency ISO RGD:2801979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency 11868649 RPS24 ribosomal protein S24 gene DOID:0060794 hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism ISO RGD:734142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy PMID:22855961|PMID:25741868|PMID:27029625 11868649 RPS24 ribosomal protein S24 gene DOID:0111887 Diamond-Blackfan anemia 3 ISO RGD:734142 D RGD:7240710 20180130 OMIM 11868649 RPS24 ribosomal protein S24 gene DOID:0111887 Diamond-Blackfan anemia 3 ISO RGD:734142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 PMID:17186470|PMID:20960466|PMID:23812780|PMID:25741868|PMID:26845104|PMID:27329125|PMID:28492532|PMID:29748317|PMID:30228860 11868649 RPS24 ribosomal protein S24 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:734142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:17186470|PMID:17576681|PMID:19689926|PMID:20960466|PMID:22855961|PMID:25741868|PMID:26136524|PMID:27029625|PMID:28492532|PMID:29748317|PMID:9536098 11868649 RPS24 ribosomal protein S24 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:734142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:28492532 11868676 CENATAC centrosomal AT-AC splicing factor gene DOID:0060017 CD3epsilon deficiency ISO RGD:1602413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11868676 CENATAC centrosomal AT-AC splicing factor gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1602413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11868676 CENATAC centrosomal AT-AC splicing factor gene DOID:0080690 RASopathy ISO RGD:1602413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11868676 CENATAC centrosomal AT-AC splicing factor gene DOID:0081330 glycogen storage disease Ib ISO RGD:1602413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 11868676 CENATAC centrosomal AT-AC splicing factor gene DOID:0110651 long QT syndrome 10 ISO RGD:1602413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11868676 CENATAC centrosomal AT-AC splicing factor gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1602413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11868676 CENATAC centrosomal AT-AC splicing factor gene DOID:0111971 immunodeficiency 18 ISO RGD:1602413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11868676 CENATAC centrosomal AT-AC splicing factor gene DOID:0111972 immunodeficiency 19 ISO RGD:1602413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11868676 CENATAC centrosomal AT-AC splicing factor gene DOID:0111973 immunodeficiency 17 ISO RGD:1602413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11868676 CENATAC centrosomal AT-AC splicing factor gene DOID:5419 schizophrenia ISO RGD:1602413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11868676 CENATAC centrosomal AT-AC splicing factor gene DOID:630 genetic disease ISO RGD:1602413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868676 CENATAC centrosomal AT-AC splicing factor gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1602413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11868676 CENATAC centrosomal AT-AC splicing factor gene DOID:9007661 Dwarfism ISO RGD:1602413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11868676 CENATAC centrosomal AT-AC splicing factor gene DOID:9007689 Mosaic Variegated Aneuploidy Syndrome 4 ISO RGD:1602413 D RGD:7240710 20221228 OMIM 11868707 ZFPM1 zinc finger protein, FOG family member 1 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1314245 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 11868707 ZFPM1 zinc finger protein, FOG family member 1 gene DOID:0080600 COVID-19 ISO RGD:1314245 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11868707 ZFPM1 zinc finger protein, FOG family member 1 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1314245 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11868707 ZFPM1 zinc finger protein, FOG family member 1 gene DOID:14780 KBG syndrome ISO RGD:1314245 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 11868707 ZFPM1 zinc finger protein, FOG family member 1 gene DOID:630 genetic disease ISO RGD:1314245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868707 ZFPM1 zinc finger protein, FOG family member 1 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1314245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 11868722 SLC35B4 solute carrier family 35 member B4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11868722 SLC35B4 solute carrier family 35 member B4 gene DOID:630 genetic disease ISO RGD:1319077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868736 DCP1B decapping mRNA 1B gene DOID:2843 long QT syndrome ISO RGD:1348381 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11868736 DCP1B decapping mRNA 1B gene DOID:630 genetic disease ISO RGD:1348381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868736 DCP1B decapping mRNA 1B gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1348381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11868750 FIGNL1 fidgetin like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11868750 FIGNL1 fidgetin like 1 gene DOID:630 genetic disease ISO RGD:1316113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868750 FIGNL1 fidgetin like 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:1316113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 11868759 MRPL43 mitochondrial ribosomal protein L43 gene DOID:630 genetic disease ISO RGD:1316878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868766 CEP290 centrosomal protein 290 gene DOID:0050545 visceral heterotaxy ISO RGD:1323204 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 11868766 CEP290 centrosomal protein 290 gene DOID:0050572 cone-rod dystrophy ISO RGD:1604786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:16909394|PMID:17345604|PMID:20690115|PMID:25741868|PMID:28492532|PMID:29641573|PMID:30193310|PMID:30718709|PMID:32865313 11868766 CEP290 centrosomal protein 290 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia PMID:25741868|PMID:28492532 11868766 CEP290 centrosomal protein 290 gene DOID:0050777 Joubert syndrome ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19763152|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20130272|PMID:20301475|PMID:20307669|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21786365|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22406018|PMID:22446187|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27032803|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27821535|PMID:27848944|PMID:27894351|PMID:28041643|PMID:28127548|PMID:28157192|PMID:28224992|PMID:28418496|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:28973549|PMID:29053603|PMID:29146704|PMID:29178642|PMID:29186038|PMID:29261186|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29620724|PMID:29641573|PMID:29754767|PMID:29771326|PMID:29844330|PMID:29970488|PMID:29974258|PMID:30190494|PMID:30193310|PMID:30559420|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30902645|PMID:31054281|PMID:31091803|PMID:31411728|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32386258|PMID:32581362|PMID:32600475|PMID:32619255|PMID:32856788|PMID:32864857|PMID:32865313|PMID:33105651|PMID:33249554|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33576794|PMID:33726816|PMID:33886416|PMID:33946315|PMID:33970760|PMID:34096792|PMID:34196655|PMID:34795310|PMID:9536098 11868766 CEP290 centrosomal protein 290 gene DOID:0050778 Meckel syndrome ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27353947|PMID:28041643|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31091803|PMID:31630094|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32165824|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098 11868766 CEP290 centrosomal protein 290 gene DOID:0050952 spastic ataxia ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:16909394|PMID:17345604|PMID:17564974|PMID:20690115|PMID:21602930|PMID:23027964|PMID:25741868|PMID:28492532|PMID:29398085 11868766 CEP290 centrosomal protein 290 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1604786 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica PMID:16199547|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26673778|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29641573|PMID:30718709|PMID:30902645|PMID:31630094|PMID:32865313|PMID:33546218 11868766 CEP290 centrosomal protein 290 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1604786 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Meckel syndrome, type 1 PMID:16199547|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25445212|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26529047|PMID:26673778|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31630094|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098 11868766 CEP290 centrosomal protein 290 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1604786 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome PMID:16199547|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25445212|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31630094|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32165824|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098 11868766 CEP290 centrosomal protein 290 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27353947|PMID:28041643|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31091803|PMID:31630094|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32165824|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098 11868766 CEP290 centrosomal protein 290 gene DOID:0070117 Meckel syndrome 3 ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 3 PMID:16199547|PMID:16909394|PMID:17345604|PMID:20690115|PMID:25445212|PMID:25741868|PMID:28492532|PMID:32139166|PMID:32165824 11868766 CEP290 centrosomal protein 290 gene DOID:0070118 Meckel syndrome 4 ISO RGD:1604786 D RGD:7240710 20180130 OMIM 11868766 CEP290 centrosomal protein 290 gene DOID:0070118 Meckel syndrome 4 ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Meckel syndrome, type 4 PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22446187|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24265693|PMID:25097241|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26667666|PMID:26673778|PMID:27353947|PMID:27375279|PMID:27894351|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:28912962|PMID:29053603|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:29754767|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30902645|PMID:31091803|PMID:31411728|PMID:31624253|PMID:31680349|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33249554|PMID:33308271|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33726816|PMID:33970760|PMID:34196655|PMID:34795310|PMID:9536098 11868766 CEP290 centrosomal protein 290 gene DOID:0070120 Meckel syndrome 6 ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 6 PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:18327255|PMID:18414213|PMID:20690115|PMID:21068128|PMID:21245082|PMID:22355252|PMID:22693042|PMID:23591405|PMID:23954617|PMID:25741868|PMID:25818971|PMID:26092869|PMID:27353947|PMID:28492532|PMID:30718709 11868766 CEP290 centrosomal protein 290 gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:18414213|PMID:20690115|PMID:21068128|PMID:21245082|PMID:22355252|PMID:22693042|PMID:23591405|PMID:23954617|PMID:25741868|PMID:25818971|PMID:26092869|PMID:27353947|PMID:28492532|PMID:30718709 11868766 CEP290 centrosomal protein 290 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1604786 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25439097|PMID:25741868|PMID:28224992|PMID:28492532|PMID:29482223|PMID:31624253|PMID:33726816|PMID:34795310 11868766 CEP290 centrosomal protein 290 gene DOID:0080322 polycystic kidney disease ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:16909394|PMID:17345604|PMID:17564967|PMID:17705300|PMID:19466712|PMID:19764032|PMID:20683928|PMID:20690115|PMID:21245082|PMID:25741868|PMID:28041643|PMID:28492532|PMID:31734136 11868766 CEP290 centrosomal protein 290 gene DOID:0110136 Bardet-Biedl syndrome 14 ISO RGD:1604786 D RGD:7240710 20180130 OMIM 11868766 CEP290 centrosomal protein 290 gene DOID:0110136 Bardet-Biedl syndrome 14 ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17964524|PMID:18327255|PMID:18414213|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24265693|PMID:25097241|PMID:25324289|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26673778|PMID:27353947|PMID:27375279|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:28912962|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:30718709|PMID:30776697|PMID:30902645|PMID:31091803|PMID:31624253|PMID:31734136|PMID:31816670|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33308271|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33726816|PMID:33970760|PMID:34196655|PMID:34795310|PMID:9536098 11868766 CEP290 centrosomal protein 290 gene DOID:0110291 Leber congenital amaurosis 10 ISO RGD:1604786 D RGD:7240710 20180130 OMIM 11868766 CEP290 centrosomal protein 290 gene DOID:0110291 Leber congenital amaurosis 10 ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 10 PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17554762|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20130272|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22446187|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28829391|PMID:28912962|PMID:28973549|PMID:29146704|PMID:29178642|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:29754767|PMID:29771326|PMID:29844330|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30902645|PMID:31091803|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33249554|PMID:33308271|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33726816|PMID:33886416|PMID:33970760|PMID:34196655|PMID:34795310|PMID:9536098 11868766 CEP290 centrosomal protein 290 gene DOID:0110873 holoprosencephaly 9 ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebellar cyst PMID:16909394|PMID:17345604|PMID:17564967|PMID:17705300|PMID:19466712|PMID:19764032|PMID:20683928|PMID:20690115|PMID:21245082|PMID:25741868|PMID:28041643|PMID:28492532|PMID:31734136 11868766 CEP290 centrosomal protein 290 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27353947|PMID:27375279|PMID:27491411|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29146704|PMID:29186038|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30776697|PMID:30902645|PMID:31091803|PMID:31624253|PMID:31630094|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32165824|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33576794|PMID:33726816|PMID:33970760|PMID:34795310|PMID:9536098 11868766 CEP290 centrosomal protein 290 gene DOID:0111000 Joubert syndrome 5 ISO RGD:1604786 D RGD:7240710 20180130 OMIM 11868766 CEP290 centrosomal protein 290 gene DOID:0111000 Joubert syndrome 5 ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome 5 PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18327255|PMID:18414213|PMID:19466712|PMID:19764032|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22446187|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26673778|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27491411|PMID:27848944|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:28844315|PMID:28912962|PMID:29146704|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29620724|PMID:29641573|PMID:29754767|PMID:29844330|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30902645|PMID:31091803|PMID:31624253|PMID:31630094|PMID:31734136|PMID:31816670|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32208788|PMID:32581362|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33249554|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33726816|PMID:33970760|PMID:34196655|PMID:34795310|PMID:9536098 11868766 CEP290 centrosomal protein 290 gene DOID:0111112 nephronophthisis 1 ISO RGD:1604786 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:16199547|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25445212|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31630094|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32165824|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098 11868766 CEP290 centrosomal protein 290 gene DOID:0111112 nephronophthisis 1 ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27353947|PMID:28041643|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31091803|PMID:31630094|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32165824|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098 11868766 CEP290 centrosomal protein 290 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:1604786 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency PMID:16909394|PMID:17345604|PMID:20690115|PMID:21866095|PMID:25741868|PMID:26092869|PMID:28492532|PMID:28497568 11868766 CEP290 centrosomal protein 290 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:1604786 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 PMID:16909394|PMID:17345604|PMID:17564967|PMID:20690115|PMID:21866095|PMID:23847139|PMID:25741868|PMID:26092869|PMID:28492532|PMID:28497568|PMID:29146704|PMID:31630094|PMID:31734136 11868766 CEP290 centrosomal protein 290 gene DOID:10584 retinitis pigmentosa ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:17564974|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:20079931|PMID:20690115|PMID:21068128|PMID:21245082|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23559409|PMID:23591405|PMID:23954617|PMID:25377065|PMID:25741868|PMID:25818971|PMID:26092869|PMID:27353947|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29343940|PMID:29844330|PMID:30718709|PMID:33546218 11868766 CEP290 centrosomal protein 290 gene DOID:10584 retinitis pigmentosa ISO RGD:1604786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:17564974|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21068128|PMID:21245082|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23954617|PMID:25741868|PMID:25818971|PMID:26092869|PMID:27353947|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29343940|PMID:29844330|PMID:30190494|PMID:30718709|PMID:33546218 11868766 CEP290 centrosomal protein 290 gene DOID:1059 intellectual disability ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome PMID:16909394|PMID:17345604|PMID:17564967|PMID:17964524|PMID:23343883|PMID:23344081|PMID:24265693|PMID:25097241|PMID:25741868|PMID:26477546|PMID:28492532|PMID:33546218 11868766 CEP290 centrosomal protein 290 gene DOID:1059 intellectual disability ISO RGD:1604786 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:16909394|PMID:17345604|PMID:17564967|PMID:17964524|PMID:20301475|PMID:23343883|PMID:23344081|PMID:24265693|PMID:25097241|PMID:25741868|PMID:26477546|PMID:28492532|PMID:33546218 11868766 CEP290 centrosomal protein 290 gene DOID:1059 intellectual disability ISO RGD:1604786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:16909394|PMID:17345604|PMID:17564967|PMID:17576681|PMID:17964524|PMID:20301475|PMID:23343883|PMID:23344081|PMID:24265693|PMID:25097241|PMID:25741868|PMID:26477546|PMID:28492532|PMID:33546218|PMID:9536098 11868766 CEP290 centrosomal protein 290 gene DOID:10907 microcephaly ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11868766 CEP290 centrosomal protein 290 gene DOID:12712 nephronophthisis ISO RGD:1604786 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:16199547|PMID:16682970|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25445212|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26529047|PMID:26673778|PMID:27422788|PMID:28041643|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28844315|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29641573|PMID:30718709|PMID:30902645|PMID:31630094|PMID:31884610|PMID:32037395|PMID:32581362|PMID:32865313|PMID:33105651|PMID:33546218|PMID:9536098 11868766 CEP290 centrosomal protein 290 gene DOID:12712 nephronophthisis ISO RGD:1604786 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:16199547|PMID:16682970|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25445212|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26529047|PMID:26673778|PMID:27422788|PMID:28041643|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28844315|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31630094|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32581362|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098 11868766 CEP290 centrosomal protein 290 gene DOID:12712 nephronophthisis ISO RGD:1604786 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:16199547|PMID:16682970|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25445212|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26529047|PMID:26673778|PMID:27422788|PMID:28041643|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28844315|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31630094|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32208788|PMID:32581362|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098 11868766 CEP290 centrosomal protein 290 gene DOID:12712 nephronophthisis ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27353947|PMID:27422788|PMID:28041643|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:28844315|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31091803|PMID:31630094|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32165824|PMID:32208788|PMID:32581362|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098 11868766 CEP290 centrosomal protein 290 gene DOID:1432 blindness ISO RGD:1604786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Blindness PMID:16909394|PMID:17345604|PMID:17564967|PMID:20683928|PMID:20690115|PMID:21866095|PMID:23188109|PMID:23847139|PMID:25525159|PMID:25741868|PMID:25920555|PMID:26092869|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29398085|PMID:31091803|PMID:31734136 11868766 CEP290 centrosomal protein 290 gene DOID:14791 Leber congenital amaurosis ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:24850569|PMID:25097241|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27422788|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:28973549|PMID:29146704|PMID:29178642|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29844330|PMID:30718709|PMID:31091803|PMID:31630094|PMID:31680349|PMID:31734136|PMID:32581362|PMID:32864857|PMID:32865313|PMID:33546218|PMID:34196655|PMID:9536098 11868766 CEP290 centrosomal protein 290 gene DOID:14791 Leber congenital amaurosis ISO RGD:1604786 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:25097241|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:29146704|PMID:29178642|PMID:29398085|PMID:29482223|PMID:29588463|PMID:30718709|PMID:30776697|PMID:30902645|PMID:31091803|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:32581362|PMID:32864857|PMID:32865313|PMID:33546218|PMID:33726816|PMID:34196655|PMID:34795310|PMID:9536098 11868766 CEP290 centrosomal protein 290 gene DOID:14791 Leber congenital amaurosis ISO RGD:1604786 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:25097241|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:29146704|PMID:29178642|PMID:29398085|PMID:29482223|PMID:29588463|PMID:30718709|PMID:30776697|PMID:30902645|PMID:31091803|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31884610|PMID:32037395|PMID:32208788|PMID:32581362|PMID:32864857|PMID:32865313|PMID:33546218|PMID:33726816|PMID:34196655|PMID:34795310|PMID:9536098 11868766 CEP290 centrosomal protein 290 gene DOID:14791 Leber congenital amaurosis ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22446187|PMID:22693042|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28224992|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:29146704|PMID:29178642|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29771326|PMID:29844330|PMID:29974258|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30902645|PMID:31091803|PMID:31411728|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31884610|PMID:32036094|PMID:32037395|PMID:32208788|PMID:32581362|PMID:32864857|PMID:32865313|PMID:33249554|PMID:33546218|PMID:33726816|PMID:34196655|PMID:34795310|PMID:9536098 11868766 CEP290 centrosomal protein 290 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:18414213|PMID:25741868|PMID:28492532 11868766 CEP290 centrosomal protein 290 gene DOID:2975 cystic kidney disease ISO RGD:1323204 D RGD:9068941 20220825 MouseDO 11868766 CEP290 centrosomal protein 290 gene DOID:557 kidney disease ISO RGD:1604786 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:16909394|PMID:17345604|PMID:17564967|PMID:20690115|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31970223|PMID:32856788|PMID:33502066|PMID:33574314|PMID:33970760 11868766 CEP290 centrosomal protein 290 gene DOID:630 genetic disease ISO RGD:1604786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:16909394|PMID:17345604|PMID:17564967|PMID:17617513|PMID:20690115|PMID:21866095|PMID:23847139|PMID:25741868|PMID:26092869|PMID:26673778|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29754767|PMID:29771326|PMID:31734136|PMID:31816670|PMID:32036094|PMID:32865313 11868766 CEP290 centrosomal protein 290 gene DOID:8466 retinal degeneration ISO RGD:1323204 D RGD:9068941 20200609 RGD PMID:16632484|REF_RGD_ID:8662295 11868766 CEP290 centrosomal protein 290 gene DOID:8466 retinal degeneration onset ISO RGD:1557212 D RGD:9068941 20200609 RGD PMID:26936822|REF_RGD_ID:11537380 11868766 CEP290 centrosomal protein 290 gene DOID:8499 night blindness ISO RGD:1604786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Night blindness PMID:16909394|PMID:17345604|PMID:20683928|PMID:20690115|PMID:25741868|PMID:28492532 11868766 CEP290 centrosomal protein 290 gene DOID:8501 fundus dystrophy ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21245082|PMID:22355252|PMID:22693042|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:25097241|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26673778|PMID:27032803|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27491411|PMID:28041643|PMID:28418496|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28829391|PMID:29178642|PMID:29398085|PMID:29771326|PMID:30718709|PMID:30902645|PMID:31091803|PMID:31734136|PMID:31884610|PMID:32036094|PMID:32037395|PMID:32865313|PMID:33546218|PMID:33576794 11868766 CEP290 centrosomal protein 290 gene DOID:9000378 Congenital Anosmia ISO RGD:1323204 D RGD:9068941 20200609 RGD PMID:17898177|REF_RGD_ID:8662303 11868766 CEP290 centrosomal protein 290 gene DOID:9000983 Encephalocele ISO RGD:1604786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalocele | ClinVar Annotator: match by term: Occipital encephalocele PMID:16909394|PMID:17345604|PMID:17564967|PMID:17564974|PMID:17705300|PMID:20683928|PMID:20690115|PMID:21866095|PMID:23847139|PMID:25525159|PMID:25741868|PMID:26092869|PMID:27894351|PMID:28492532|PMID:28497568|PMID:29398085|PMID:31680349|PMID:31734136 11868766 CEP290 centrosomal protein 290 gene DOID:9006534 Nervous System Malformations ISO RGD:1604786 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:18414213|PMID:20690115|PMID:21068128|PMID:21245082|PMID:22355252|PMID:22693042|PMID:23591405|PMID:23954617|PMID:25741868|PMID:25818971|PMID:26092869|PMID:27353947|PMID:28492532|PMID:30718709 11868766 CEP290 centrosomal protein 290 gene DOID:9008086 Developmental Disabilities ISO RGD:1604786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:20690115|PMID:21866095|PMID:23847139|PMID:25741868|PMID:26092869|PMID:28492532|PMID:28497568|PMID:29588463|PMID:31734136 11868766 CEP290 centrosomal protein 290 gene DOID:9008709 Senior-Loken Syndrome 6 ISO RGD:1604786 D RGD:7240710 20180130 OMIM 11868766 CEP290 centrosomal protein 290 gene DOID:9008709 Senior-Loken Syndrome 6 ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 6 PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24265693|PMID:25097241|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26673778|PMID:27353947|PMID:27375279|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:28912962|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:30718709|PMID:30776697|PMID:30902645|PMID:31091803|PMID:31624253|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33308271|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33726816|PMID:33970760|PMID:34196655|PMID:34795310|PMID:9536098 11868766 CEP290 centrosomal protein 290 gene DOID:9650 pathologic nystagmus ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:16909394|PMID:17345604|PMID:17564967|PMID:20683928|PMID:20690115|PMID:23188109|PMID:25525159|PMID:25741868|PMID:25920555|PMID:26092869|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29398085|PMID:31091803|PMID:31734136 11868830 SRI sorcin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11868830 SRI sorcin gene DOID:6000 congestive heart failure ISO RGD:1584485 D RGD:9068941 20200609 RGD associated with Hypertension PMID:12754254|REF_RGD_ID:7327200 11868830 SRI sorcin gene DOID:6000 congestive heart failure ISO RGD:1584485 D RGD:9068941 20200609 RGD protein:decreased expression:cardiac muscle cell PMID:20945956|REF_RGD_ID:7327198 11868830 SRI sorcin gene DOID:630 genetic disease ISO RGD:1603229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868830 SRI sorcin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603229 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11868830 SRI sorcin gene DOID:9003936 Cardiomegaly ISO RGD:1621397 D RGD:9068941 20200609 RGD PMID:11485922|REF_RGD_ID:7327201 11868830 SRI sorcin gene DOID:9004657 Weight Gain ISO RGD:1603229 D RGD:9068941 20220114 CTD CTD Direct Evidence: therapeutic PMID:33930463 11868842 EAPP E2F associated phosphoprotein gene DOID:630 genetic disease ISO RGD:1320061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868842 EAPP E2F associated phosphoprotein gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1320061 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11868857 MCHR1 melanin concentrating hormone receptor 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:733421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11868857 MCHR1 melanin concentrating hormone receptor 1 gene DOID:11981 morbid obesity onset ISO RGD:733421 D RGD:9068941 20200609 RGD DNA:SNP:promoter PMID:16186414|REF_RGD_ID:1624359 11868857 MCHR1 melanin concentrating hormone receptor 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:733421 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:15706485|PMID:24476420|PMID:28492532 11868857 MCHR1 melanin concentrating hormone receptor 1 gene DOID:630 genetic disease ISO RGD:733421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868857 MCHR1 melanin concentrating hormone receptor 1 gene DOID:9970 obesity ISO RGD:619841 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus PMID:15363890|REF_RGD_ID:1624360 11868874 OTC ornithine transcarbamylase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11868874 OTC ornithine transcarbamylase gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:732939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked PMID:22929960|PMID:27701760|PMID:28492532 11868874 OTC ornithine transcarbamylase gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:732939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 11868874 OTC ornithine transcarbamylase gene DOID:12849 autistic disorder ISO RGD:732939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11868874 OTC ornithine transcarbamylase gene DOID:13580 cholestasis ISO RGD:3236 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:15916970|REF_RGD_ID:4143230 11868874 OTC ornithine transcarbamylase gene DOID:1561 cognitive disorder ISO RGD:732939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8778603 11868874 OTC ornithine transcarbamylase gene DOID:630 genetic disease ISO RGD:732939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10946359|PMID:16786505|PMID:17041896|PMID:17334707|PMID:17565723|PMID:17576681|PMID:18440262|PMID:23769969|PMID:24010702|PMID:2474822|PMID:25433810|PMID:25741868|PMID:25994866|PMID:28266016|PMID:2836378|PMID:28492532|PMID:28887792|PMID:34014569|PMID:8260194|PMID:8829665|PMID:8830175|PMID:9286441|PMID:9536098|PMID:9610619 11868874 OTC ornithine transcarbamylase gene DOID:684 hepatocellular carcinoma severity ISO RGD:732939 D RGD:9068941 20220616 RGD mRNA:altered expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 11868874 OTC ornithine transcarbamylase gene DOID:9000722 Animal Hepatitis ISO RGD:3236 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:8821709|REF_RGD_ID:2303519 11868874 OTC ornithine transcarbamylase gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:3236 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:19101528|REF_RGD_ID:4144059 11868874 OTC ornithine transcarbamylase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3236 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:7865721|REF_RGD_ID:4144080 11868874 OTC ornithine transcarbamylase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11868874 OTC ornithine transcarbamylase gene DOID:9001708 Hemorrhagic Shock ISO RGD:3236 D RGD:9068941 20200609 RGD protein:increased activity:serum (rat) PMID:17224795|REF_RGD_ID:1643525 11868874 OTC ornithine transcarbamylase gene DOID:9002231 Fetal Growth Retardation ISO RGD:3236 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:8929856|REF_RGD_ID:4144077 11868874 OTC ornithine transcarbamylase gene DOID:9002802 Acidoses ISO RGD:3236 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:9472964|REF_RGD_ID:4144071 11868874 OTC ornithine transcarbamylase gene DOID:9002955 Nerve Degeneration ISO RGD:732939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24161480 11868874 OTC ornithine transcarbamylase gene DOID:9004009 Reperfusion Injury ISO RGD:3236 D RGD:9068941 20200609 RGD protein:increased activity:serum PMID:1499453|REF_RGD_ID:4144083 11868874 OTC ornithine transcarbamylase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11868874 OTC ornithine transcarbamylase gene DOID:9004484 Sepsis ISO RGD:3236 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:10353541|REF_RGD_ID:4144069 11868874 OTC ornithine transcarbamylase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3236 D RGD:9068941 20200609 RGD protein:decreased activity:small intestine (rat) PMID:9628242|REF_RGD_ID:4144123 11868874 OTC ornithine transcarbamylase gene DOID:9005930 Endotoxemia ISO RGD:732939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16741687 11868874 OTC ornithine transcarbamylase gene DOID:9007820 Sudden Death ISO RGD:732939 D RGD:9068941 20200609 RGD death due to neonatal-onset hyperammonaemic encephalopathy PMID:17262046|REF_RGD_ID:1601074 11868874 OTC ornithine transcarbamylase gene DOID:9007874 Liver Failure ISO RGD:3236 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:11779202|REF_RGD_ID:70249 11868874 OTC ornithine transcarbamylase gene DOID:9008086 Developmental Disabilities ISO RGD:732939 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 11868874 OTC ornithine transcarbamylase gene DOID:9008972 Hyperammonemia ISO RGD:732939 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hyperammonaemia | ClinVar Annotator: match by term: Hyperammonemia PMID:17613537|PMID:18204299|PMID:18440262|PMID:25637381|PMID:25741868|PMID:28492532|PMID:33489762|PMID:8807340 11868874 OTC ornithine transcarbamylase gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:732939 D RGD:7240710 20180130 OMIM 11868874 OTC ornithine transcarbamylase gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:732939 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: OTC deficiency | ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:10070627|PMID:10405441|PMID:10502831|PMID:10737985|PMID:10799432|PMID:10869432|PMID:10946359|PMID:11102556|PMID:11117428|PMID:11260212|PMID:11388595|PMID:11745010|PMID:11768581|PMID:11793468|PMID:11793483|PMID:12083811|PMID:12402347|PMID:12536032|PMID:12579493|PMID:1353535|PMID:1480464|PMID:14976564|PMID:15060014|PMID:15174800|PMID:16055928|PMID:16199547|PMID:1627356|PMID:1671317|PMID:16786505|PMID:16969763|PMID:17041896|PMID:17044854|PMID:1721894|PMID:17334707|PMID:17565723|PMID:17576681|PMID:1757964|PMID:17613537|PMID:17922216|PMID:18204299|PMID:18440262|PMID:18487280|PMID:18604903|PMID:18662984|PMID:19138872|PMID:19475717|PMID:19669271|PMID:19783189|PMID:19893582|PMID:2035531|PMID:2037279|PMID:20406775|PMID:20458665|PMID:20817516|PMID:21070677|PMID:21488237|PMID:21956151|PMID:2208768|PMID:22099885|PMID:22340867|PMID:22382802|PMID:2246687|PMID:22494545|PMID:22727265|PMID:23209112|PMID:23278509|PMID:2347583|PMID:23551631|PMID:23568734|PMID:23769969|PMID:24006547|PMID:24010702|PMID:24033266|PMID:24055113|PMID:24199608|PMID:24449986|PMID:2474822|PMID:25011434|PMID:25026867|PMID:25297582|PMID:25425289|PMID:25433810|PMID:2556444|PMID:25637381|PMID:25741868|PMID:25741869|PMID:25853564|PMID:25854183|PMID:25949836|PMID:25994866|PMID:26059767|PMID:26467025|PMID:26574542|PMID:26753873|PMID:26819360|PMID:27070778|PMID:2741942|PMID:27489649|PMID:27738433|PMID:28107167|PMID:28261508|PMID:28266016|PMID:28324312|PMID:2836378|PMID:2843770|PMID:28492532|PMID:28815739|PMID:28887792|PMID:29123827|PMID:29282796|PMID:29581464|PMID:30175132|PMID:30285816|PMID:30626930|PMID:31130284|PMID:31426867|PMID:3170748|PMID:32272297|PMID:32410394|PMID:32793520|PMID:32853555|PMID:32934962|PMID:32995020|PMID:33272297|PMID:33369132|PMID:33489762|PMID:33851512|PMID:34014557|PMID:34014569|PMID:34906067|PMID:36303552|PMID:7474892|PMID:7474905|PMID:7627182|PMID:7860064|PMID:7860066|PMID:7951259|PMID:8019569|PMID:8081398|PMID:8099056|PMID:8112735|PMID:8260194|PMID:8295401|PMID:8364586|PMID:8365726|PMID:8530002|PMID:8566955|PMID:8786061|PMID:8807340|PMID:8829665|PMID:8830175|PMID:8857803|PMID:8863155|PMID:8956038|PMID:8985493|PMID:9007316|PMID:9028466|PMID:9048915|PMID:9056557|PMID:9143919|PMID:9175746|PMID:9266387|PMID:9266388|PMID:9286441|PMID:9427144|PMID:9452024|PMID:9452049|PMID:9501271|PMID:9536098|PMID:9609999|PMID:9610619|PMID:9686344|PMID:9852088 11868874 OTC ornithine transcarbamylase gene DOID:936 brain disease ISO RGD:732939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8778603 11868874 OTC ornithine transcarbamylase gene DOID:9452 fatty liver disease ISO RGD:3236 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:18823438|REF_RGD_ID:4144061 11868874 OTC ornithine transcarbamylase gene DOID:9562 primary ciliary dyskinesia ISO RGD:732939 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:10946359|PMID:11793468|PMID:16055928|PMID:16786505|PMID:16969763|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 11868874 OTC ornithine transcarbamylase gene DOID:9970 obesity ISO RGD:3236 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:1330956|REF_RGD_ID:4144087 11868914 ZW10 zw10 kinetochore protein gene DOID:1059 intellectual disability ISO RGD:1319405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11868914 ZW10 zw10 kinetochore protein gene DOID:3347 osteosarcoma ISO RGD:1319405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14767549 11868914 ZW10 zw10 kinetochore protein gene DOID:630 genetic disease ISO RGD:1319405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868914 ZW10 zw10 kinetochore protein gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1319405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11868937 FUT3 fucosyltransferase 3 (Lewis blood group) gene DOID:630 genetic disease ISO RGD:1351938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868949 HBM hemoglobin subunit mu gene DOID:1099 alpha thalassemia ISO RGD:1348198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: alpha Thalassemia PMID:10602170|PMID:11017952|PMID:24025420|PMID:28791910|PMID:2986746|PMID:3191033|PMID:6158051 11868949 HBM hemoglobin subunit mu gene DOID:630 genetic disease ISO RGD:1348198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868956 SLCO2B1 solute carrier organic anion transporter family member 2B1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:736486 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11868956 SLCO2B1 solute carrier organic anion transporter family member 2B1 gene DOID:1059 intellectual disability ISO RGD:736486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11868956 SLCO2B1 solute carrier organic anion transporter family member 2B1 gene DOID:1793 pancreatic cancer ISO RGD:736486 D RGD:9068941 20220623 RGD mRNA:decreased expression:pancreas (human) PMID:21625523|REF_RGD_ID:152995425 11868956 SLCO2B1 solute carrier organic anion transporter family member 2B1 gene DOID:3571 liver cancer disease_progression ISO RGD:736486 D RGD:9068941 20220623 RGD mRNA:decreased expression:liver (human) PMID:21625523|REF_RGD_ID:152995425 11868956 SLCO2B1 solute carrier organic anion transporter family member 2B1 gene DOID:630 genetic disease ISO RGD:736486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868986 IQGAP1 IQ motif containing GTPase activating protein 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1323573 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 11868986 IQGAP1 IQ motif containing GTPase activating protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1323573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11868986 IQGAP1 IQ motif containing GTPase activating protein 1 gene DOID:630 genetic disease ISO RGD:1323573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11868986 IQGAP1 IQ motif containing GTPase activating protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1323573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20977743 11868986 IQGAP1 IQ motif containing GTPase activating protein 1 gene DOID:9000352 Vascular System Injuries ISO RGD:1311884 D RGD:9068941 20200609 RGD PMID:15217908|REF_RGD_ID:11049588 11868986 IQGAP1 IQ motif containing GTPase activating protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11868986 IQGAP1 IQ motif containing GTPase activating protein 1 gene DOID:9002514 Neointima ISO RGD:1323574 D RGD:9068941 20200609 RGD associated with Vascular System Injuries PMID:23657573|REF_RGD_ID:11049552 11868986 IQGAP1 IQ motif containing GTPase activating protein 1 gene DOID:9004657 Weight Gain ISO RGD:1323573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11868986 IQGAP1 IQ motif containing GTPase activating protein 1 gene DOID:9007502 Brain Neoplasms ISO RGD:1323573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 11868986 IQGAP1 IQ motif containing GTPase activating protein 1 gene DOID:9256 colorectal cancer ISO RGD:1323573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11869028 MVB12B multivesicular body subunit 12B gene DOID:630 genetic disease ISO RGD:1320196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869028 MVB12B multivesicular body subunit 12B gene DOID:9467 nail-patella syndrome ISO RGD:1320196 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Nail-patella syndrome PMID:18414507 11869042 AP2S1 adaptor related protein complex 2 subunit sigma 1 gene DOID:0060702 familial hypocalciuric hypercalcemia 3 ISO RGD:732482 D RGD:7240710 20200610 OMIM 11869042 AP2S1 adaptor related protein complex 2 subunit sigma 1 gene DOID:0060702 familial hypocalciuric hypercalcemia 3 ISO RGD:732482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 3 PMID:1524075|PMID:17576681|PMID:20133464|PMID:23222959|PMID:24081735|PMID:24731014|PMID:25741868|PMID:26082470|PMID:27050234|PMID:27761240|PMID:27913609|PMID:28492532|PMID:29325022|PMID:29420171|PMID:9536098 11869042 AP2S1 adaptor related protein complex 2 subunit sigma 1 gene DOID:0080600 COVID-19 ISO RGD:732482 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11869042 AP2S1 adaptor related protein complex 2 subunit sigma 1 gene DOID:630 genetic disease ISO RGD:732482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869042 AP2S1 adaptor related protein complex 2 subunit sigma 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11869046 RUNX1 RUNX family transcription factor 1 gene DOID:0050700 cardiomyopathy ISO RGD:736526 D RGD:9068941 20200609 RGD PMID:12937148|REF_RGD_ID:1304428 11869046 RUNX1 RUNX family transcription factor 1 gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:736526 D RGD:9068941 20200609 RGD DNA:missense mutations, nonsense mutation, frameshift mutations: :multiple PMID:17910630|REF_RGD_ID:11251705 11869046 RUNX1 RUNX family transcription factor 1 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma onset ISO RGD:736526 D RGD:9068941 20200609 RGD DNA:amplification PMID:21822204|REF_RGD_ID:6482828 11869046 RUNX1 RUNX family transcription factor 1 gene DOID:1037 lymphoid leukemia ISO RGD:736526 D RGD:9068941 20200609 RGD DNA:translocation: : PMID:9539781|REF_RGD_ID:10450724 11869046 RUNX1 RUNX family transcription factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:736526 D RGD:9068941 20200609 RGD associated with Down Syndrome PMID:20946940|REF_RGD_ID:6482829 11869046 RUNX1 RUNX family transcription factor 1 gene DOID:2841 asthma ISO RGD:736526 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:21803869|REF_RGD_ID:6482835 11869046 RUNX1 RUNX family transcription factor 1 gene DOID:5603 T-cell acute lymphoblastic leukemia disease_progression ISO RGD:736526 D RGD:9068941 20200609 RGD PMID:21828118|REF_RGD_ID:11251708 11869046 RUNX1 RUNX family transcription factor 1 gene DOID:7148 rheumatoid arthritis ISO RGD:736526 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2242720, rs4816502 (human) PMID:20018071|REF_RGD_ID:6482836 11869046 RUNX1 RUNX family transcription factor 1 gene DOID:7148 rheumatoid arthritis no_association ISO RGD:736526 D RGD:9068941 20200609 RGD DNA:SNP PMID:16821265|REF_RGD_ID:6482837 11869046 RUNX1 RUNX family transcription factor 1 gene DOID:7148 rheumatoid arthritis no_association ISO RGD:736526 D RGD:9068941 20200609 RGD DNA:SNP: :rs2268277 (human) PMID:18087673|REF_RGD_ID:6482840 11869046 RUNX1 RUNX family transcription factor 1 gene DOID:7148 rheumatoid arthritis no_association ISO RGD:736526 D RGD:9068941 20200609 RGD DNA:SNP:intron:24658G>C (human) PMID:18328148|REF_RGD_ID:6482839 11869046 RUNX1 RUNX family transcription factor 1 gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:736526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy PMID:25741868|PMID:34355501 11869046 RUNX1 RUNX family transcription factor 1 gene DOID:9005515 Therapy-related Acute Myeloid Leukemia ISO RGD:736526 D RGD:9068941 20200609 RGD DNA:translocations:intron:multiple PMID:9763573|REF_RGD_ID:11251709 11869046 RUNX1 RUNX family transcription factor 1 gene DOID:9119 acute myeloid leukemia ISO RGD:736526 D RGD:9068941 20200625 RGD PMID:11023523|REF_RGD_ID:11251692 11869046 RUNX1 RUNX family transcription factor 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:736526 D RGD:9068941 20200609 RGD DNA:frameshift mutations, missense mutations, nonsense mutations: :multiple PMID:19808697|REF_RGD_ID:11251704 11869046 RUNX1 RUNX family transcription factor 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:736526 D RGD:9068941 20200609 RGD DNA:translocation PMID:12760263|REF_RGD_ID:6482833 11869046 RUNX1 RUNX family transcription factor 1 gene DOID:9538 multiple myeloma ISO RGD:736526 D RGD:9068941 20200609 RGD mRNA:splice variant PMID:12560229|REF_RGD_ID:6482834 11869064 HCAR1 hydroxycarboxylic acid receptor 1 gene DOID:630 genetic disease ISO RGD:1316071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869069 HSPB7 heat shock protein family B (small) member 7 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:736091 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11869069 HSPB7 heat shock protein family B (small) member 7 gene DOID:13501 Moebius syndrome ISO RGD:736091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 11869069 HSPB7 heat shock protein family B (small) member 7 gene DOID:630 genetic disease ISO RGD:736091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869082 OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 gene DOID:0110004 3-methylglutaconic aciduria type 3 ISO RGD:1319326 D RGD:7240710 20180130 OMIM 11869082 OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 gene DOID:0110004 3-methylglutaconic aciduria type 3 ISO RGD:1319326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 PMID:11668429|PMID:12126933|PMID:15342707|PMID:15902555|PMID:17576681|PMID:18985435|PMID:20301646|PMID:20350831|PMID:23700088|PMID:24136862|PMID:24749080|PMID:25159689|PMID:25201222|PMID:25205859|PMID:25741868|PMID:26190011|PMID:27528516|PMID:27629047|PMID:28081242|PMID:28492532|PMID:9536098 11869082 OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 gene DOID:0111433 optic atrophy 3 ISO RGD:1319326 D RGD:7240710 20180130 OMIM 11869082 OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 gene DOID:0111433 optic atrophy 3 ISO RGD:1319326 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Optic atrophy 3 PMID:13703570|PMID:15342707|PMID:20301646|PMID:24136862|PMID:25159689|PMID:25205859|PMID:25741868|PMID:28081242|PMID:28492532 11869082 OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 gene DOID:0111441 optic atrophy 1 ISO RGD:1319326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic Atrophy, Dominant 11869082 OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 gene DOID:630 genetic disease ISO RGD:1319326 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11869082 OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 gene DOID:9001923 Foveal Hypoplasia ISO RGD:1319326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Foveal hypoplasia PMID:31696227 11869093 STK25 serine/threonine kinase 25 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1342524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11869093 STK25 serine/threonine kinase 25 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1342524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11869093 STK25 serine/threonine kinase 25 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1342524 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11869093 STK25 serine/threonine kinase 25 gene DOID:1059 intellectual disability ISO RGD:1342524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11869093 STK25 serine/threonine kinase 25 gene DOID:630 genetic disease ISO RGD:1342524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869093 STK25 serine/threonine kinase 25 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1342524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11869123 CFC1B cripto, FRL-1, cryptic family 1B gene DOID:0050545 visceral heterotaxy ISO RGD:1557732 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 11869123 CFC1B cripto, FRL-1, cryptic family 1B gene DOID:0050545 visceral heterotaxy ISO RGD:1557732 D RGD:9068941 20220922 RGD PMID:10574770|REF_RGD_ID:155226882 11869123 CFC1B cripto, FRL-1, cryptic family 1B gene DOID:0050545 visceral heterotaxy ISO RGD:2289769 D RGD:9068941 20220922 RGD DNA:missense mutation:exon:334C>T (p.R112C)(human) PMID:11062482|REF_RGD_ID:155226879 11869123 CFC1B cripto, FRL-1, cryptic family 1B gene DOID:0050545 visceral heterotaxy ISO RGD:2289769 D RGD:9068941 20221117 RGD DNA:CNVs::2q21.1 (human) PMID:25423076|REF_RGD_ID:155226881 11869123 CFC1B cripto, FRL-1, cryptic family 1B gene DOID:0060770 dextro-looped transposition of the great arteries ISO RGD:1557732 D RGD:9068941 20220825 MouseDO 11869123 CFC1B cripto, FRL-1, cryptic family 1B gene DOID:0060856 right atrial isomerism ISO RGD:1557732 D RGD:9068941 20220825 MouseDO OMIM:208530 11869123 CFC1B cripto, FRL-1, cryptic family 1B gene DOID:6406 double outlet right ventricle ISO RGD:1557732 D RGD:9068941 20220825 MouseDO OMIM:217095 11869123 CFC1B cripto, FRL-1, cryptic family 1B gene DOID:6419 tetralogy of Fallot ISO RGD:2289769 D RGD:9068941 20220922 RGD DNA:hypermethylation:promoter: PMID:24479926|REF_RGD_ID:155226880 11869123 CFC1B cripto, FRL-1, cryptic family 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2289769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11869138 RPL38 ribosomal protein L38 gene DOID:10754 otitis media ISO RGD:1313683 D RGD:9068941 20220825 MouseDO OMIM:166760 11869153 LOC100990994 T-cell receptor-associated transmembrane adapter 1 gene DOID:11372 megacolon ISO RGD:1350612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11869153 LOC100990994 T-cell receptor-associated transmembrane adapter 1 gene DOID:630 genetic disease ISO RGD:1350612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869171 NIPSNAP2 nipsnap homolog 2 gene DOID:12849 autistic disorder ISO RGD:1345241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11869171 NIPSNAP2 nipsnap homolog 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11869171 NIPSNAP2 nipsnap homolog 2 gene DOID:630 genetic disease ISO RGD:1345241 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869184 CARNS1 carnosine synthase 1 gene DOID:1059 intellectual disability ISO RGD:2301770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11869184 CARNS1 carnosine synthase 1 gene DOID:630 genetic disease ISO RGD:2301770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869184 CARNS1 carnosine synthase 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:2301770 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11869184 CARNS1 carnosine synthase 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:2301770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11869194 MEP1A meprin A subunit alpha gene DOID:630 genetic disease ISO RGD:735747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869194 MEP1A meprin A subunit alpha gene DOID:9002928 Colonic Neoplasms ISO RGD:735747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 11869213 C6H6orf47 chromosome 6 C6orf47 homolog gene DOID:0050553 JMP syndrome ISO RGD:1354435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11869213 C6H6orf47 chromosome 6 C6orf47 homolog gene DOID:11372 megacolon ISO RGD:1354435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11869213 C6H6orf47 chromosome 6 C6orf47 homolog gene DOID:630 genetic disease ISO RGD:1354435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869238 LUZP6 leucine zipper protein 6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2290193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11869238 LUZP6 leucine zipper protein 6 gene DOID:630 genetic disease ISO RGD:2290193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869273 UTS2 urotensin 2 gene DOID:0050700 cardiomyopathy ISO RGD:3930 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:myocardium PMID:18280445|REF_RGD_ID:2306796 11869273 UTS2 urotensin 2 gene DOID:0050700 cardiomyopathy ISO RGD:737599 D RGD:9068941 20200609 RGD PMID:12791592|REF_RGD_ID:1580809 11869273 UTS2 urotensin 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:737599 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11869273 UTS2 urotensin 2 gene DOID:10591 pre-eclampsia ISO RGD:737599 D RGD:9068941 20200609 RGD PMID:15866083|REF_RGD_ID:1580806 11869273 UTS2 urotensin 2 gene DOID:10763 hypertension ISO RGD:3930 D RGD:9068941 20200609 RGD PMID:14621188|REF_RGD_ID:1580812 11869273 UTS2 urotensin 2 gene DOID:10763 hypertension ISO RGD:737599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16160878 11869273 UTS2 urotensin 2 gene DOID:10763 hypertension ISO RGD:737599 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15201550|REF_RGD_ID:1580808 11869273 UTS2 urotensin 2 gene DOID:114 heart disease susceptibility ISO RGD:737599 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:16508659|REF_RGD_ID:2306803 11869273 UTS2 urotensin 2 gene DOID:11714 gestational diabetes susceptibility ISO RGD:737599 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:17327028|REF_RGD_ID:2306802 11869273 UTS2 urotensin 2 gene DOID:12932 endomyocardial fibrosis ISO RGD:3930 D RGD:9068941 20200609 RGD PMID:17184580|REF_RGD_ID:2306814 11869273 UTS2 urotensin 2 gene DOID:2841 asthma ISO RGD:3930 D RGD:9068941 20200609 RGD PMID:17045018|REF_RGD_ID:2306832 11869273 UTS2 urotensin 2 gene DOID:2841 asthma ISO RGD:737599 D RGD:9068941 20200609 RGD PMID:17045018|REF_RGD_ID:2306832 11869273 UTS2 urotensin 2 gene DOID:3407 carotid artery disease ISO RGD:737599 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:18338983|REF_RGD_ID:2306795 11869273 UTS2 urotensin 2 gene DOID:480 movement disease ISO RGD:737599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16160878 11869273 UTS2 urotensin 2 gene DOID:5844 myocardial infarction ISO RGD:3930 D RGD:9068941 20200609 RGD associated with Heart Failure, Congestive;mRNA:increased expression:heart ventricle PMID:15549273|REF_RGD_ID:2306846 11869273 UTS2 urotensin 2 gene DOID:6000 congestive heart failure ISO RGD:737599 D RGD:9068941 20200609 RGD PMID:12791592|REF_RGD_ID:1580809 11869273 UTS2 urotensin 2 gene DOID:6000 congestive heart failure severity ISO RGD:737599 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16364499|REF_RGD_ID:2306804 11869273 UTS2 urotensin 2 gene DOID:630 genetic disease ISO RGD:737599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869273 UTS2 urotensin 2 gene DOID:6432 pulmonary hypertension ISO RGD:3930 D RGD:9068941 20200609 RGD PMID:15042392|REF_RGD_ID:2306848 11869273 UTS2 urotensin 2 gene DOID:8670 eating disorder ISO RGD:737599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16160878 11869273 UTS2 urotensin 2 gene DOID:8947 diabetic retinopathy ISO RGD:737599 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:18338983|REF_RGD_ID:2306795 11869273 UTS2 urotensin 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:3930 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney PMID:18796544|REF_RGD_ID:2306786 11869273 UTS2 urotensin 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737599 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:15492948|REF_RGD_ID:2306805 11869273 UTS2 urotensin 2 gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:737599 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:urine PMID:15476950|REF_RGD_ID:2306806 11869273 UTS2 urotensin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11869273 UTS2 urotensin 2 gene DOID:9005289 Water Intoxication ISO RGD:737599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16160878 11869273 UTS2 urotensin 2 gene DOID:9007001 Bradycardia ISO RGD:737599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16160878 11869273 UTS2 urotensin 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3930 D RGD:9068941 20200609 RGD PMID:17900760|REF_RGD_ID:2306836 11869273 UTS2 urotensin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737599 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:18067077|REF_RGD_ID:2306799 11869273 UTS2 urotensin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737599 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15476950|REF_RGD_ID:2306806 11869273 UTS2 urotensin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737600 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:19323985|REF_RGD_ID:2306785 11869273 UTS2 urotensin 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737599 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.S89N PMID:15476949|REF_RGD_ID:2306807 11869291 RNF212B ring finger protein 212B gene DOID:0060439 lysinuric protein intolerance ISO RGD:1347248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11869291 RNF212B ring finger protein 212B gene DOID:9000265 Specific Granule Deficiency ISO RGD:1347248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 11869291 RNF212B ring finger protein 212B gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1347248 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11869318 AQP7 aquaporin 7 gene DOID:0060180 colitis ISO RGD:736375 D RGD:9068941 20200609 RGD associated with Infection;mRNA, protein:decreased expression:colon PMID:15338270|REF_RGD_ID:1626292 11869318 AQP7 aquaporin 7 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:736375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11869318 AQP7 aquaporin 7 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:736375 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11869318 AQP7 aquaporin 7 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:736375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11869318 AQP7 aquaporin 7 gene DOID:11981 morbid obesity ISO RGD:736375 D RGD:9068941 20200609 RGD mRNA:decreased expression:subcutaneous adipose tissue PMID:17566090|REF_RGD_ID:1626289 11869318 AQP7 aquaporin 7 gene DOID:684 hepatocellular carcinoma ISO RGD:736375 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:24033266 11869318 AQP7 aquaporin 7 gene DOID:8577 ulcerative colitis severity ISO RGD:736375 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:colon PMID:15338270|REF_RGD_ID:1626292 11869318 AQP7 aquaporin 7 gene DOID:8778 Crohn's disease severity ISO RGD:736375 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:colon PMID:15338270|REF_RGD_ID:1626292 11869318 AQP7 aquaporin 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 11869318 AQP7 aquaporin 7 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736375 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle: PMID:29783856|REF_RGD_ID:13782361 11869318 AQP7 aquaporin 7 gene DOID:9562 primary ciliary dyskinesia ISO RGD:736375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11869318 AQP7 aquaporin 7 gene DOID:9870 galactosemia ISO RGD:736375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11869318 AQP7 aquaporin 7 gene DOID:9970 obesity ISO RGD:736375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16325777 11869327 SHB SH2 domain containing adaptor protein B gene DOID:630 genetic disease ISO RGD:1350494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869336 PTPN6 protein tyrosine phosphatase non-receptor type 6 gene DOID:0060041 autism spectrum disorder ISO RGD:734188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11869336 PTPN6 protein tyrosine phosphatase non-receptor type 6 gene DOID:0060496 respiratory allergy ISO RGD:734188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18441283 11869336 PTPN6 protein tyrosine phosphatase non-receptor type 6 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:734188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11869336 PTPN6 protein tyrosine phosphatase non-receptor type 6 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:734188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11869336 PTPN6 protein tyrosine phosphatase non-receptor type 6 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:734188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11869336 PTPN6 protein tyrosine phosphatase non-receptor type 6 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:734188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11869336 PTPN6 protein tyrosine phosphatase non-receptor type 6 gene DOID:0111621 Temtamy syndrome ISO RGD:734188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11869336 PTPN6 protein tyrosine phosphatase non-receptor type 6 gene DOID:11168 anogenital venereal wart ISO RGD:734188 D RGD:9068941 20201001 RGD protein:increased expression:foreskin PMID:18543080|REF_RGD_ID:39128248 11869336 PTPN6 protein tyrosine phosphatase non-receptor type 6 gene DOID:182 calcinosis ISO RGD:734188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11869336 PTPN6 protein tyrosine phosphatase non-receptor type 6 gene DOID:4079 heart valve disease ISO RGD:734188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11869336 PTPN6 protein tyrosine phosphatase non-receptor type 6 gene DOID:4362 cervical cancer ISO RGD:734188 D RGD:9068941 20201001 RGD protein:increased expression:foreskin PMID:18543080|REF_RGD_ID:39128248 11869336 PTPN6 protein tyrosine phosphatase non-receptor type 6 gene DOID:630 genetic disease ISO RGD:734188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869336 PTPN6 protein tyrosine phosphatase non-receptor type 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 11869336 PTPN6 protein tyrosine phosphatase non-receptor type 6 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:734188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11869364 GTF3A general transcription factor IIIA gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:732489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11869364 GTF3A general transcription factor IIIA gene DOID:630 genetic disease ISO RGD:732489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869395 NRTN neurturin gene DOID:10487 Hirschsprung's disease ISO RGD:731950 D RGD:9068941 20200609 RGD PMID:9700200|REF_RGD_ID:1600267 11869395 NRTN neurturin gene DOID:12895 keratoconjunctivitis sicca ISO RGD:731951 D RGD:9068941 20200609 RGD PMID:14507865|REF_RGD_ID:7349377 11869395 NRTN neurturin gene DOID:630 genetic disease ISO RGD:731950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869396 CBX4 chromobox 4 gene DOID:630 genetic disease ISO RGD:1348844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869396 CBX4 chromobox 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1348844 D RGD:9068941 20200609 RGD PMID:24838576|REF_RGD_ID:9586738 11869396 CBX4 chromobox 4 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1348844 D RGD:9068941 20200609 RGD protein:increased expression:cytoplasm: PMID:23943028|REF_RGD_ID:9586739 11869396 CBX4 chromobox 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348844 D RGD:9068941 20200609 RGD associated with Carcinoma, Hepatocellular; PMID:24838576|REF_RGD_ID:9586738 11869396 CBX4 chromobox 4 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1348844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 11869431 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:0050553 JMP syndrome ISO RGD:1348865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11869431 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:0060009 MHC class I deficiency ISO RGD:1348865 D RGD:7240710 20180130 OMIM 11869431 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:0060009 MHC class I deficiency ISO RGD:1348865 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1 | ClinVar Annotator: match by term: HLA CLASS I DEFICIENCY | ClinVar Annotator: match by term: MHC class I deficiency PMID:10560675|PMID:11529920|PMID:12067308|PMID:1570316|PMID:16199547|PMID:17576681|PMID:23662797|PMID:24033266|PMID:25741868|PMID:26122175|PMID:28492532|PMID:7517574|PMID:9536098 11869431 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:0060704 lymphoproliferative syndrome susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:nonsense mutation PMID:10560675|REF_RGD_ID:1601413 11869431 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:21796142|REF_RGD_ID:5147839 11869431 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:1025 tuberculoid leprosy susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:9062973|REF_RGD_ID:5147851 11869431 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:10316 pneumoconiosis ISO RGD:1348865 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 11869431 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNP: :(rs241448)(human) PMID:16595160|REF_RGD_ID:6482265 11869431 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:12206 dengue hemorrhagic fever susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:18071882|REF_RGD_ID:6482261 11869431 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:1577 limited scleroderma susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:16112028|REF_RGD_ID:1578361 11869431 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:1580 diffuse scleroderma susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:16112028|REF_RGD_ID:1578361 11869431 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:2377 multiple sclerosis ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNPs:CDs:p.V379I, A565T(human) PMID:7928442|REF_RGD_ID:6482280 11869431 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:2377 multiple sclerosis no_association ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNPs:CDs:p.V379I, A565T(human) PMID:7797617|REF_RGD_ID:6482281 11869431 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:synonymous mutation: : PMID:7759306|REF_RGD_ID:6482279 11869431 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:2893 cervix carcinoma susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNP: :(rs4148876)(human) PMID:17366619|REF_RGD_ID:6482264 11869431 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:9062973|REF_RGD_ID:5147851 11869431 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:3042 allergic contact dermatitis susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:9303338|REF_RGD_ID:6482276 11869431 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1348865 D RGD:9068941 20200609 RGD protein:decreased expression:esophagus PMID:19492245|REF_RGD_ID:6482249 11869431 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:4362 cervical cancer ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:18248301|REF_RGD_ID:6482260 11869431 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:4362 cervical cancer susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:12648582|REF_RGD_ID:6482272 11869431 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:6196 reactive arthritis ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:7748224|REF_RGD_ID:6482278 11869431 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:630 genetic disease ISO RGD:1348865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11869431 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:7147 ankylosing spondylitis ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:19480848|REF_RGD_ID:6482250 11869431 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:7148 rheumatoid arthritis ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:9645419|REF_RGD_ID:6482275 11869431 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:8893 psoriasis susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNPs:CDs:p.T665A, Q687Q(human) PMID:17581627|REF_RGD_ID:6482263 11869431 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11869431 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:9007425 Diffuse Panbronchiolitis susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:polymorphisms:exon: PMID:10323341|REF_RGD_ID:5147847 11869431 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:9014588|REF_RGD_ID:6482277 11869431 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:12634240|REF_RGD_ID:6482273 11869431 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:9744 type 1 diabetes mellitus ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:1300236|PMID:17192492|REF_RGD_ID:2312368|REF_RGD_ID:2312373 11869453 RHOXF1 Rhox homeobox family member 1 gene DOID:0050437 Danon disease ISO RGD:1603173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 11869453 RHOXF1 Rhox homeobox family member 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11869453 RHOXF1 Rhox homeobox family member 1 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1603173 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 11869453 RHOXF1 Rhox homeobox family member 1 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1603173 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 11869453 RHOXF1 Rhox homeobox family member 1 gene DOID:12849 autistic disorder ISO RGD:1603173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11869453 RHOXF1 Rhox homeobox family member 1 gene DOID:630 genetic disease ISO RGD:1603173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869454 ING2 inhibitor of growth family member 2 gene DOID:630 genetic disease ISO RGD:1348017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869470 ULK2 unc-51 like autophagy activating kinase 2 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1320930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 11869470 ULK2 unc-51 like autophagy activating kinase 2 gene DOID:10283 prostate cancer ISO RGD:1320930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11869470 ULK2 unc-51 like autophagy activating kinase 2 gene DOID:12849 autistic disorder ISO RGD:1320930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11869470 ULK2 unc-51 like autophagy activating kinase 2 gene DOID:1790 malignant mesothelioma ISO RGD:1320930 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 11869470 ULK2 unc-51 like autophagy activating kinase 2 gene DOID:630 genetic disease ISO RGD:1320930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869470 ULK2 unc-51 like autophagy activating kinase 2 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1320930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 11869515 PTPN7 protein tyrosine phosphatase non-receptor type 7 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1605720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11869515 PTPN7 protein tyrosine phosphatase non-receptor type 7 gene DOID:1540 parathyroid carcinoma ISO RGD:1605720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11869515 PTPN7 protein tyrosine phosphatase non-receptor type 7 gene DOID:630 genetic disease ISO RGD:1605720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869515 PTPN7 protein tyrosine phosphatase non-receptor type 7 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1605720 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11869515 PTPN7 protein tyrosine phosphatase non-receptor type 7 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11869535 PAAF1 proteasomal ATPase associated factor 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1602098 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11869535 PAAF1 proteasomal ATPase associated factor 1 gene DOID:1059 intellectual disability ISO RGD:1602098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11869535 PAAF1 proteasomal ATPase associated factor 1 gene DOID:630 genetic disease ISO RGD:1602098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869560 APPL2 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2 gene DOID:303 substance-related disorder ISO RGD:1605653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11869560 APPL2 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2 gene DOID:630 genetic disease ISO RGD:1605653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869560 APPL2 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11869588 ZSWIM6 zinc finger SWIM-type containing 6 gene DOID:0060342 acromelic frontonasal dysostosis ISO RGD:1352510 D RGD:7240710 20180130 OMIM 11869588 ZSWIM6 zinc finger SWIM-type containing 6 gene DOID:0060342 acromelic frontonasal dysostosis ISO RGD:1352510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acromelic frontonasal dysostosis PMID:25105228|PMID:25741868|PMID:26706854|PMID:28492532 11869588 ZSWIM6 zinc finger SWIM-type containing 6 gene DOID:1826 epilepsy ISO RGD:1352510 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11869588 ZSWIM6 zinc finger SWIM-type containing 6 gene DOID:630 genetic disease ISO RGD:1352510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25105228|PMID:25741868|PMID:26706854|PMID:28492532 11869588 ZSWIM6 zinc finger SWIM-type containing 6 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1352510 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:25741868|PMID:28492532 11869588 ZSWIM6 zinc finger SWIM-type containing 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11869588 ZSWIM6 zinc finger SWIM-type containing 6 gene DOID:9009123 Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features ISO RGD:1352510 D RGD:7240710 20190315 OMIM 11869588 ZSWIM6 zinc finger SWIM-type containing 6 gene DOID:9009123 Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features ISO RGD:1352510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | ClinVar Annotator: match by term: ZSWIM6 related intellectual disability PMID:25741868|PMID:28492532|PMID:29198722 11869605 IL1RL2 interleukin 1 receptor like 2 gene DOID:0080685 aortic dissection ISO RGD:1353187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ascending aortic dissection PMID:34409081 11869605 IL1RL2 interleukin 1 receptor like 2 gene DOID:630 genetic disease ISO RGD:1353187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869605 IL1RL2 interleukin 1 receptor like 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:621782 D RGD:9068941 20210514 RGD compared to Wild Type in cardiopulmonary bypass model PMID:32048631|REF_RGD_ID:126925167 11869631 ADGRG1 adhesion G protein-coupled receptor G1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1352005 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11869631 ADGRG1 adhesion G protein-coupled receptor G1 gene DOID:0080922 bilateral frontoparietal polymicrogyria ISO RGD:1352005 D RGD:7240710 20190315 OMIM 11869631 ADGRG1 adhesion G protein-coupled receptor G1 gene DOID:0080922 bilateral frontoparietal polymicrogyria ISO RGD:1352005 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bilateral frontoparietal polymicrogyria PMID:15044805|PMID:18414213|PMID:19016831|PMID:20929962|PMID:21349848|PMID:22238662|PMID:24033266|PMID:24949629|PMID:25642806|PMID:25741868|PMID:25922261|PMID:26467025|PMID:27657451|PMID:28097321|PMID:28424266|PMID:28492532|PMID:29707406|PMID:34513772 11869631 ADGRG1 adhesion G protein-coupled receptor G1 gene DOID:0080924 bilateral perisylvian polymicrogyria ISO RGD:1352005 D RGD:7240710 20190315 OMIM 11869631 ADGRG1 adhesion G protein-coupled receptor G1 gene DOID:0080924 bilateral perisylvian polymicrogyria ISO RGD:1352005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polymicrogyria, bilateral perisylvian, autosomal recessive PMID:25741868 11869631 ADGRG1 adhesion G protein-coupled receptor G1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1352005 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11869631 ADGRG1 adhesion G protein-coupled receptor G1 gene DOID:1826 epilepsy ISO RGD:1352005 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11869631 ADGRG1 adhesion G protein-coupled receptor G1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1352005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11869631 ADGRG1 adhesion G protein-coupled receptor G1 gene DOID:630 genetic disease ISO RGD:1352005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15044805|PMID:16240336|PMID:17576745|PMID:18042463|PMID:18414213|PMID:20929962|PMID:21349848|PMID:21723461|PMID:24949629|PMID:25741868|PMID:26467025|PMID:27818281|PMID:28424266|PMID:28492532 11869631 ADGRG1 adhesion G protein-coupled receptor G1 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1352005 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 11869631 ADGRG1 adhesion G protein-coupled receptor G1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1352005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11869631 ADGRG1 adhesion G protein-coupled receptor G1 gene DOID:9006534 Nervous System Malformations ISO RGD:1352005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:15044805|PMID:25741868 11869631 ADGRG1 adhesion G protein-coupled receptor G1 gene DOID:9008086 Developmental Disabilities ISO RGD:1352005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11869681 CDC14A cell division cycle 14A gene DOID:0110491 autosomal recessive nonsyndromic deafness 32 ISO RGD:1312211 D RGD:7240710 20190315 OMIM 11869681 CDC14A cell division cycle 14A gene DOID:0110491 autosomal recessive nonsyndromic deafness 32 ISO RGD:1312211 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 105 | ClinVar Annotator: match by term: Deafness, autosomal recessive 32 PMID:12634867|PMID:24033266|PMID:25741868|PMID:27259055|PMID:28492532|PMID:29293958|PMID:32747562 11869681 CDC14A cell division cycle 14A gene DOID:10003 sensorineural hearing loss ISO RGD:1312211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 11869681 CDC14A cell division cycle 14A gene DOID:12336 male infertility ISO RGD:1312211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29293958 11869681 CDC14A cell division cycle 14A gene DOID:14228 oligospermia ISO RGD:1312211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29293958 11869681 CDC14A cell division cycle 14A gene DOID:630 genetic disease ISO RGD:1312211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11869681 CDC14A cell division cycle 14A gene DOID:9008681 Deafness ISO RGD:1312211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29293958 11869681 CDC14A cell division cycle 14A gene DOID:9269 maple syrup urine disease ISO RGD:1312211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 11869717 SNX2 sorting nexin 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321108 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11869717 SNX2 sorting nexin 2 gene DOID:630 genetic disease ISO RGD:1321108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869717 SNX2 sorting nexin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11869717 SNX2 sorting nexin 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321108 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11869717 SNX2 sorting nexin 2 gene DOID:9007386 Congenital Lower Urinary Tract Obstruction ISO RGD:1321108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital PMID:31690835 11869736 LOC100975969 SLC35A4 upstream open reading frame protein gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1348037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11869736 LOC100975969 SLC35A4 upstream open reading frame protein gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348037 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11869736 LOC100975969 SLC35A4 upstream open reading frame protein gene DOID:630 genetic disease ISO RGD:1348037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869736 LOC100975969 SLC35A4 upstream open reading frame protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11869736 LOC100975969 SLC35A4 upstream open reading frame protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348037 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11869743 RAD51AP2 RAD51 associated protein 2 gene DOID:630 genetic disease ISO RGD:2311158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869749 SLC25A17 solute carrier family 25 member 17 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1322988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11869749 SLC25A17 solute carrier family 25 member 17 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1322988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:15706485|PMID:24476420|PMID:28492532 11869749 SLC25A17 solute carrier family 25 member 17 gene DOID:630 genetic disease ISO RGD:1322988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869762 CCK cholecystokinin gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:737505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 11869762 CCK cholecystokinin gene DOID:10808 gastric ulcer ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10422768|PMID:10458643|PMID:11025360|PMID:11787760|PMID:15024038|PMID:9872509 11869762 CCK cholecystokinin gene DOID:11981 morbid obesity ISO RGD:737505 D RGD:9068941 20200609 RGD protein:decreased expression:plasma:associated with Metabolic Syndrome X (MeSH:D024821) PMID:17443025|REF_RGD_ID:1625798 11869762 CCK cholecystokinin gene DOID:14330 Parkinson's disease no_association ISO RGD:737505 D RGD:9068941 20200609 RGD PMID:10668930|REF_RGD_ID:1626086 11869762 CCK cholecystokinin gene DOID:3602 toxic encephalopathy ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11869762 CCK cholecystokinin gene DOID:409 liver disease ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11869762 CCK cholecystokinin gene DOID:4989 pancreatitis ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16187300|PMID:16499907 11869762 CCK cholecystokinin gene DOID:630 genetic disease ISO RGD:737505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869762 CCK cholecystokinin gene DOID:77 gastrointestinal system disease ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7481522 11869762 CCK cholecystokinin gene DOID:83 cataract ISO RGD:2288 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16989746|REF_RGD_ID:2313636 11869762 CCK cholecystokinin gene DOID:9000641 Pain ISO RGD:2288 D RGD:9068941 20200609 RGD PMID:17157334|REF_RGD_ID:2313635 11869762 CCK cholecystokinin gene DOID:9000972 Fever ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27565679 11869762 CCK cholecystokinin gene DOID:9001109 Anorexia ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22903826|PMID:24385417 11869762 CCK cholecystokinin gene DOID:9002211 Hyperalgesia ISO RGD:2288 D RGD:9068941 20200609 RGD PMID:15647484|REF_RGD_ID:1626108 11869762 CCK cholecystokinin gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27565679 11869762 CCK cholecystokinin gene DOID:9002362 Hyperkinesis ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3561887|PMID:3735805 11869762 CCK cholecystokinin gene DOID:9003126 Hallucinations ISO RGD:737505 D RGD:9068941 20200609 RGD associated with Parkinson Disease;DNA:polymorphism, haplogype:promoter:-45C>T (human) PMID:12777967|REF_RGD_ID:1625802 11869762 CCK cholecystokinin gene DOID:9003805 Catalepsy ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2862602|PMID:4040614 11869762 CCK cholecystokinin gene DOID:9004099 Bulimia ISO RGD:737505 D RGD:9068941 20200609 RGD protein:decreased expression:blood:decreased postprandial release PMID:8988922|REF_RGD_ID:1625799 11869762 CCK cholecystokinin gene DOID:9005372 Inflammation ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14599722 11869762 CCK cholecystokinin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2288 D RGD:9068941 20200609 RGD PMID:15536283|REF_RGD_ID:2313638 11869762 CCK cholecystokinin gene DOID:9006113 Gallstones ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1631261 11869762 CCK cholecystokinin gene DOID:9006646 Metabolic Syndrome ISO RGD:737505 D RGD:9068941 20200609 RGD protein:decreased expression:plasma:associated with Obesity, Morbid (MeSH:D009767) PMID:17443025|REF_RGD_ID:1625798 11869762 CCK cholecystokinin gene DOID:9007650 Unconsciousness ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6281507 11869762 CCK cholecystokinin gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2320253 11869771 ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1607015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868|PMID:28317099|PMID:31230720 11869771 ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 ISO RGD:1607015 D RGD:7240710 20200805 OMIM 11869771 ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 ISO RGD:1607015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 2, neurogenic type PMID:28317099|PMID:5491443 11869771 ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:0110112 atrial heart septal defect 7 ISO RGD:1607015 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 11869771 ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:10908 hydrocephalus ISO RGD:1607015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 11869771 ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:630 genetic disease ISO RGD:1607015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869771 ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:9006836 Contracture ISO RGD:1607015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 11869771 ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:1607015 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 11869788 CADPS2 calcium dependent secretion activator 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1557036 D RGD:9068941 20220825 MouseDO 11869788 CADPS2 calcium dependent secretion activator 2 gene DOID:12849 autistic disorder ISO RGD:1342691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17380209 11869788 CADPS2 calcium dependent secretion activator 2 gene DOID:13580 cholestasis ISO RGD:1342691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 11869788 CADPS2 calcium dependent secretion activator 2 gene DOID:303 substance-related disorder ISO RGD:1342691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11869788 CADPS2 calcium dependent secretion activator 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1342691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11869788 CADPS2 calcium dependent secretion activator 2 gene DOID:630 genetic disease ISO RGD:1342691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869788 CADPS2 calcium dependent secretion activator 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1342691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 11869852 TMEM9 transmembrane protein 9 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1317397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11869852 TMEM9 transmembrane protein 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1317397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11869852 TMEM9 transmembrane protein 9 gene DOID:630 genetic disease ISO RGD:1317397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869852 TMEM9 transmembrane protein 9 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1317397 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11869852 TMEM9 transmembrane protein 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11869868 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:0060883 intestinal hypomagnesemia 1 ISO RGD:1353386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 11869868 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 ISO RGD:1353386 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Guam disease PMID:25741868|PMID:28492532 11869868 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 no_association ISO RGD:1353386 D RGD:9068941 20200609 RGD DNA:mutation:cds: p.T1482I (human) PMID:19405049|REF_RGD_ID:5685008 11869868 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 susceptibility ISO RGD:1353386 D RGD:7240710 20190502 OMIM 11869868 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:2717 Bloom syndrome ISO RGD:1353386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11869868 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:2914 immune system disease ISO RGD:1353386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30770447 11869868 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1353386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to PMID:16051700|PMID:19405049|PMID:25741868 11869868 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:5082 liver cirrhosis ISO RGD:1353386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25150141 11869868 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:630 genetic disease ISO RGD:1353386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869868 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:657 adenoma ISO RGD:1353386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17823441 11869868 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:9000276 Juvenile Amyotrophic Lateral Sclerosis ISO RGD:1353386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis PMID:16051700|PMID:19405049|PMID:25741868 11869868 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:9002315 Kidney Calculi ISO RGD:1353386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24291744 11869868 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:9004009 Reperfusion Injury ISO RGD:620053 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:hippocampus PMID:18395621|REF_RGD_ID:5684390 11869868 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:9004271 Colonic Polyps ISO RGD:1353386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17823441 11869868 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1353386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30710498 11869868 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:9005246 Paralysis ISO RGD:1353386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24291744 11869868 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:9006030 Infant Death ISO RGD:1353386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30770447 11869868 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1353386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17823441 11869868 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:9256 colorectal cancer ISO RGD:1353386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11869921 D2HGDH D-2-hydroxyglutarate dehydrogenase gene DOID:0050573 2-hydroxyglutaric aciduria ISO RGD:1606344 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11869921 D2HGDH D-2-hydroxyglutarate dehydrogenase gene DOID:0050575 D-2-hydroxyglutaric aciduria ISO RGD:1606344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria PMID:18414213|PMID:25741868|PMID:28492532 11869921 D2HGDH D-2-hydroxyglutarate dehydrogenase gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1606344 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11869921 D2HGDH D-2-hydroxyglutarate dehydrogenase gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1606344 D RGD:7240710 20190918 OMIM 11869921 D2HGDH D-2-hydroxyglutarate dehydrogenase gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1606344 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:15609246|PMID:16037974|PMID:16081310|PMID:16199547|PMID:16442322|PMID:17576681|PMID:18414213|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:22391998|PMID:24715439|PMID:25741868|PMID:26178471|PMID:28135719|PMID:28492532|PMID:30848064|PMID:30908763|PMID:31488895|PMID:33431826|PMID:7609436|PMID:9536098 11869921 D2HGDH D-2-hydroxyglutarate dehydrogenase gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1606344 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11869921 D2HGDH D-2-hydroxyglutarate dehydrogenase gene DOID:1059 intellectual disability ISO RGD:1606344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11869921 D2HGDH D-2-hydroxyglutarate dehydrogenase gene DOID:1826 epilepsy ISO RGD:1606344 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 11869921 D2HGDH D-2-hydroxyglutarate dehydrogenase gene DOID:630 genetic disease ISO RGD:1606344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26178471|PMID:28492532|PMID:33431826 11869921 D2HGDH D-2-hydroxyglutarate dehydrogenase gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1606344 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11869921 D2HGDH D-2-hydroxyglutarate dehydrogenase gene DOID:9252 amino acid metabolic disorder ISO RGD:1606344 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15609246 11869946 ATP6V0D1 ATPase H+ transporting V0 subunit d1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1314615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11869946 ATP6V0D1 ATPase H+ transporting V0 subunit d1 gene DOID:630 genetic disease ISO RGD:1314615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869961 PIGT phosphatidylinositol glycan anchor biosynthesis class T gene DOID:0060284 paroxysmal nocturnal hemoglobinuria ISO RGD:1316180 D RGD:9068941 20220728 CTD CTD Direct Evidence: marker/mechanism PMID:25417052 11869961 PIGT phosphatidylinositol glycan anchor biosynthesis class T gene DOID:0080140 multiple congenital anomalies-hypotonia-seizures syndrome 3 ISO RGD:1316180 D RGD:7240710 20180130 OMIM 11869961 PIGT phosphatidylinositol glycan anchor biosynthesis class T gene DOID:0080140 multiple congenital anomalies-hypotonia-seizures syndrome 3 ISO RGD:1316180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 | ClinVar Annotator: match by term: PIGT-related disorder PMID:16199547|PMID:23636107|PMID:24906948|PMID:25741868|PMID:25943031|PMID:27916860|PMID:28327575|PMID:28492532|PMID:28728837|PMID:30813157|PMID:30976099|PMID:32220244|PMID:32404165|PMID:32581362|PMID:32725661|PMID:34046058 11869961 PIGT phosphatidylinositol glycan anchor biosynthesis class T gene DOID:1826 epilepsy ISO RGD:1316180 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:27916860|PMID:30976099|PMID:32581362 11869961 PIGT phosphatidylinositol glycan anchor biosynthesis class T gene DOID:2234 focal epilepsy ISO RGD:1316180 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11869961 PIGT phosphatidylinositol glycan anchor biosynthesis class T gene DOID:630 genetic disease ISO RGD:1316180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25943031|PMID:27916860|PMID:28492532|PMID:30976099|PMID:32581362 11869961 PIGT phosphatidylinositol glycan anchor biosynthesis class T gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1316180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11869961 PIGT phosphatidylinositol glycan anchor biosynthesis class T gene DOID:9002189 High Myopia ISO RGD:1316180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:28492532 11869961 PIGT phosphatidylinositol glycan anchor biosynthesis class T gene DOID:9004285 Paroxysmal Nocturnal Hemoglobinuria 1 ISO RGD:1316180 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1 PMID:25741868 11869961 PIGT phosphatidylinositol glycan anchor biosynthesis class T gene DOID:9008086 Developmental Disabilities ISO RGD:1316180 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:27916860|PMID:30976099|PMID:32581362 11869961 PIGT phosphatidylinositol glycan anchor biosynthesis class T gene DOID:9008263 Paroxysmal Nocturnal Hemoglobinuria 2 ISO RGD:1316180 D RGD:7240710 20180130 OMIM 11869961 PIGT phosphatidylinositol glycan anchor biosynthesis class T gene DOID:9008263 Paroxysmal Nocturnal Hemoglobinuria 2 ISO RGD:1316180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 2 PMID:23733340|PMID:25741868|PMID:28492532 11869980 PAXBP1 PAX3 and PAX7 binding protein 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1353290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11869980 PAXBP1 PAX3 and PAX7 binding protein 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1353290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 11869980 PAXBP1 PAX3 and PAX7 binding protein 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1353290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11869980 PAXBP1 PAX3 and PAX7 binding protein 1 gene DOID:630 genetic disease ISO RGD:1353290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11869980 PAXBP1 PAX3 and PAX7 binding protein 1 gene DOID:9002189 High Myopia ISO RGD:1353290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11869980 PAXBP1 PAX3 and PAX7 binding protein 1 gene DOID:9005698 ZTTK Syndrome ISO RGD:1353290 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 11870003 STPG1 sperm tail PG-rich repeat containing 1 gene DOID:630 genetic disease ISO RGD:1604766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870003 STPG1 sperm tail PG-rich repeat containing 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1604766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11870003 STPG1 sperm tail PG-rich repeat containing 1 gene DOID:9008934 Van der Woude Syndrome 2 ISO RGD:1604766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Van der Woude syndrome 2 PMID:25741868|PMID:28492532 11870026 GABARAPL1 GABA type A receptor associated protein like 1 gene DOID:0080600 COVID-19 ISO RGD:1317596 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 11870026 GABARAPL1 GABA type A receptor associated protein like 1 gene DOID:630 genetic disease ISO RGD:1317596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870051 BANF1 BAF nuclear assembly factor 1 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1342836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 11870051 BANF1 BAF nuclear assembly factor 1 gene DOID:0081334 Nestor-Guillermo progeria syndrome ISO RGD:1342836 D RGD:7240710 20180130 OMIM 11870051 BANF1 BAF nuclear assembly factor 1 gene DOID:0081334 Nestor-Guillermo progeria syndrome ISO RGD:1342836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome PMID:21549337|PMID:23720404|PMID:28492532 11870051 BANF1 BAF nuclear assembly factor 1 gene DOID:1059 intellectual disability ISO RGD:1342836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11870051 BANF1 BAF nuclear assembly factor 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1342836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11870051 BANF1 BAF nuclear assembly factor 1 gene DOID:2746 glycogen storage disease V ISO RGD:1342836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11870051 BANF1 BAF nuclear assembly factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1342836 D RGD:9068941 20230105 RGD mRNA, protein:increased expression:liver (human) PMID:29059470|REF_RGD_ID:155791679 11870051 BANF1 BAF nuclear assembly factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:620662 D RGD:9068941 20230105 RGD mRNA, protein:increased expression:liver (rat) PMID:29059470|REF_RGD_ID:155791679 11870051 BANF1 BAF nuclear assembly factor 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:732240 D RGD:9068941 20230105 RGD PMID:29059470|REF_RGD_ID:155791679 11870051 BANF1 BAF nuclear assembly factor 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1342836 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11870051 BANF1 BAF nuclear assembly factor 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1342836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11870060 PRPF4 pre-mRNA processing factor 4 gene DOID:0110392 retinitis pigmentosa 70 ISO RGD:1322687 D RGD:7240710 20180130 OMIM 11870060 PRPF4 pre-mRNA processing factor 4 gene DOID:0110392 retinitis pigmentosa 70 ISO RGD:1322687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 70 PMID:17576681|PMID:24419317|PMID:25741868|PMID:28492532|PMID:8090199|PMID:9536098 11870060 PRPF4 pre-mRNA processing factor 4 gene DOID:303 substance-related disorder ISO RGD:1322687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11870060 PRPF4 pre-mRNA processing factor 4 gene DOID:630 genetic disease ISO RGD:1322687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24419317|PMID:25741868|PMID:28492532|PMID:8090199 11870060 PRPF4 pre-mRNA processing factor 4 gene DOID:8501 fundus dystrophy ISO RGD:1322687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 11870090 TMEM143 transmembrane protein 143 gene DOID:630 genetic disease ISO RGD:1602477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870103 IFNAR2 interferon alpha and beta receptor subunit 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1346107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11870103 IFNAR2 interferon alpha and beta receptor subunit 2 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1346107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 11870103 IFNAR2 interferon alpha and beta receptor subunit 2 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1346107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11870103 IFNAR2 interferon alpha and beta receptor subunit 2 gene DOID:0080600 COVID-19 ISO RGD:1346107 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:33307546 11870103 IFNAR2 interferon alpha and beta receptor subunit 2 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1346107 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children PMID:28492532 11870103 IFNAR2 interferon alpha and beta receptor subunit 2 gene DOID:0081013 severe COVID-19 ISO RGD:1346107 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to severe COVID-19 PMID:28492532 11870103 IFNAR2 interferon alpha and beta receptor subunit 2 gene DOID:0111975 immunodeficiency 44 ISO RGD:1346107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 44 PMID:25741868|PMID:26424569|PMID:28492532|PMID:33193576 11870103 IFNAR2 interferon alpha and beta receptor subunit 2 gene DOID:0111994 immunodeficiency 45 ISO RGD:1346107 D RGD:7240710 20230510 OMIM 11870103 IFNAR2 interferon alpha and beta receptor subunit 2 gene DOID:0111994 immunodeficiency 45 ISO RGD:1346107 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Immunodeficiency 45 PMID:16757563|PMID:17576681|PMID:25741868|PMID:26424569|PMID:28492532|PMID:33193576|PMID:35442417|PMID:9536098 11870103 IFNAR2 interferon alpha and beta receptor subunit 2 gene DOID:2043 hepatitis B ISO RGD:1346107 D RGD:7240710 20230510 OMIM 11870103 IFNAR2 interferon alpha and beta receptor subunit 2 gene DOID:2043 hepatitis B ISO RGD:1346107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HBV, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Hepatitis B virus, susceptibility to PMID:16757563|PMID:25741868|PMID:28492532 11870103 IFNAR2 interferon alpha and beta receptor subunit 2 gene DOID:630 genetic disease ISO RGD:1346107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11870103 IFNAR2 interferon alpha and beta receptor subunit 2 gene DOID:9005698 ZTTK Syndrome ISO RGD:1346107 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 11870118 PGBD2 piggyBac transposable element derived 2 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1312360 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11870118 PGBD2 piggyBac transposable element derived 2 gene DOID:630 genetic disease ISO RGD:1312360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870130 ACTL10 actin like 10 gene DOID:2843 long QT syndrome ISO RGD:1346529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11870130 ACTL10 actin like 10 gene DOID:630 genetic disease ISO RGD:1346529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870164 UPF1 UPF1 RNA helicase and ATPase gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1313946 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 11870164 UPF1 UPF1 RNA helicase and ATPase gene DOID:1059 intellectual disability ISO RGD:1313946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability syndrome PMID:25741868 11870164 UPF1 UPF1 RNA helicase and ATPase gene DOID:630 genetic disease ISO RGD:1313946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870164 UPF1 UPF1 RNA helicase and ATPase gene DOID:9008582 Developmental Disease ISO RGD:1313946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11870164 UPF1 UPF1 RNA helicase and ATPase gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1313946 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11870190 ALAD aminolevulinate dehydratase gene DOID:0060041 autism spectrum disorder ISO RGD:736545 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11870190 ALAD aminolevulinate dehydratase gene DOID:10763 hypertension ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20123609 11870190 ALAD aminolevulinate dehydratase gene DOID:10763 hypertension no_association ISO RGD:736545 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:11335187|REF_RGD_ID:1601156 11870190 ALAD aminolevulinate dehydratase gene DOID:10923 sickle cell anemia ISO RGD:736545 D RGD:9068941 20200609 RGD protein:increased activity:erythrocyte PMID:900140|REF_RGD_ID:12904674 11870190 ALAD aminolevulinate dehydratase gene DOID:11394 adult respiratory distress syndrome ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 11870190 ALAD aminolevulinate dehydratase gene DOID:11832 visual epilepsy ISO RGD:2083 D RGD:9068941 20200609 RGD protein:decreased activity:brain, liver (rat) PMID:17320826|REF_RGD_ID:4144168 11870190 ALAD aminolevulinate dehydratase gene DOID:1459 hypothyroidism ISO RGD:2083 D RGD:9068941 20200609 RGD protein:decreased activity:blood (rat) PMID:17720948|REF_RGD_ID:4144163 11870190 ALAD aminolevulinate dehydratase gene DOID:1824 status epilepticus ISO RGD:2083 D RGD:9068941 20200609 RGD protein:decreased activity:hippocampus, frontal cortex (rat) PMID:20026167|REF_RGD_ID:4144137 11870190 ALAD aminolevulinate dehydratase gene DOID:2352 hemochromatosis treatment ISO RGD:2083 D RGD:9068941 20200609 RGD PMID:3679087|REF_RGD_ID:12904688 11870190 ALAD aminolevulinate dehydratase gene DOID:2355 anemia ISO RGD:2083 D RGD:9068941 20200609 RGD associated with Trypanosomiasis;protein:increased activity:erythrocyte PMID:21854703|REF_RGD_ID:12904694 11870190 ALAD aminolevulinate dehydratase gene DOID:3021 acute kidney failure ISO RGD:2083 D RGD:9068941 20200609 RGD protein:decreased activity:kidney (rat) PMID:19484701|REF_RGD_ID:4144146 11870190 ALAD aminolevulinate dehydratase gene DOID:3132 porphyria cutanea tarda ISO RGD:736545 D RGD:9068941 20200609 RGD protein:decreased activity:blood, erythrocyte PMID:8100994|REF_RGD_ID:12904682 11870190 ALAD aminolevulinate dehydratase gene DOID:3132 porphyria cutanea tarda treatment ISO RGD:736545 D RGD:9068941 20200609 RGD PMID:526041|REF_RGD_ID:12904671 11870190 ALAD aminolevulinate dehydratase gene DOID:3565 meningioma ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16140629 11870190 ALAD aminolevulinate dehydratase gene DOID:409 liver disease ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24631795 11870190 ALAD aminolevulinate dehydratase gene DOID:4450 renal cell carcinoma ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21799727 11870190 ALAD aminolevulinate dehydratase gene DOID:5082 liver cirrhosis ISO RGD:10133 D RGD:9068941 20200609 RGD protein:decreased activity:liver (human) PMID:6848403|REF_RGD_ID:15042852 11870190 ALAD aminolevulinate dehydratase gene DOID:5082 liver cirrhosis ISO RGD:2083 D RGD:9068941 20200609 RGD protein:decreased activity:liver (human) PMID:6848403|REF_RGD_ID:15042852 11870190 ALAD aminolevulinate dehydratase gene DOID:5082 liver cirrhosis ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11870190 ALAD aminolevulinate dehydratase gene DOID:5082 liver cirrhosis ISO RGD:736545 D RGD:9068941 20200609 RGD protein:decreased activity:liver (human) PMID:6848403|REF_RGD_ID:15042852 11870190 ALAD aminolevulinate dehydratase gene DOID:557 kidney disease ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23792432|PMID:24631795 11870190 ALAD aminolevulinate dehydratase gene DOID:630 genetic disease ISO RGD:736545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11870190 ALAD aminolevulinate dehydratase gene DOID:74 hematopoietic system disease ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24631795 11870190 ALAD aminolevulinate dehydratase gene DOID:8955 sideroblastic anemia ISO RGD:10133 D RGD:9068941 20200609 RGD protein:decreased activity:kidney, liver, spleen PMID:5891055|REF_RGD_ID:12904678 11870190 ALAD aminolevulinate dehydratase gene DOID:9000304 Manganese Poisoning ISO RGD:2083 D RGD:9068941 20200609 RGD protein:decreased activity:striatum (rat) PMID:18778733|REF_RGD_ID:4144152 11870190 ALAD aminolevulinate dehydratase gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20123609 11870190 ALAD aminolevulinate dehydratase gene DOID:9002304 Prostatic Neoplasms ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24500903 11870190 ALAD aminolevulinate dehydratase gene DOID:9005584 Hepatic Porphyrias ISO RGD:2083 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:6721832|REF_RGD_ID:4144806 11870190 ALAD aminolevulinate dehydratase gene DOID:9005584 Hepatic Porphyrias ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1905639|PMID:3684400 11870190 ALAD aminolevulinate dehydratase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10133 D RGD:9068941 20200609 RGD protein:decreased activity:blood, liver PMID:7728901|REF_RGD_ID:12904683 11870190 ALAD aminolevulinate dehydratase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2083 D RGD:9068941 20200609 RGD protein:decreased activity:liver, kidney (rat) PMID:19043199|REF_RGD_ID:4144150 11870190 ALAD aminolevulinate dehydratase gene DOID:9005643 Experimental Diabetes Mellitus susceptibility ISO RGD:10133 D RGD:9068941 20200609 RGD protein:decreased activity:liver, erythrocyte (rat) PMID:10224671|REF_RGD_ID:15039405 11870190 ALAD aminolevulinate dehydratase gene DOID:9005643 Experimental Diabetes Mellitus susceptibility ISO RGD:2083 D RGD:9068941 20200609 RGD protein:decreased activity:liver, erythrocyte (rat) PMID:10224671|REF_RGD_ID:15039405 11870190 ALAD aminolevulinate dehydratase gene DOID:9005643 Experimental Diabetes Mellitus susceptibility ISO RGD:736545 D RGD:9068941 20200609 RGD protein:decreased activity:liver, erythrocyte (rat) PMID:10224671|REF_RGD_ID:15039405 11870190 ALAD aminolevulinate dehydratase gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2083 D RGD:9068941 20200609 RGD PMID:18668330|PMID:21864646|PMID:24947461|REF_RGD_ID:12904692|REF_RGD_ID:12904702|REF_RGD_ID:12904704 11870190 ALAD aminolevulinate dehydratase gene DOID:9006617 Fatigue ISO RGD:2083 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver (rat) PMID:17204241|REF_RGD_ID:1599013 11870190 ALAD aminolevulinate dehydratase gene DOID:9006693 ALAD-Deficiency Porphyria ISO RGD:736545 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Porphobilinogen synthase deficiency | ClinVar Annotator: match by term: Porphyria, acute hepatic, digenic PMID:10519994|PMID:11071662|PMID:11342419|PMID:15303011|PMID:1569184|PMID:16398658|PMID:1716854|PMID:17236137|PMID:17576681|PMID:19015748|PMID:1905639|PMID:2063868|PMID:24033266|PMID:25741868|PMID:28492532|PMID:33199206|PMID:3684400|PMID:513604|PMID:9536098 11870190 ALAD aminolevulinate dehydratase gene DOID:9006693 ALAD-Deficiency Porphyria susceptibility ISO RGD:736545 D RGD:7240710 20230505 OMIM 11870190 ALAD aminolevulinate dehydratase gene DOID:9007159 Nervous System Lead Poisoning ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21439310 11870190 ALAD aminolevulinate dehydratase gene DOID:9007964 Arsenic Poisoning ISO RGD:2083 D RGD:9068941 20200609 RGD protein:decreased activity:blood (rat) PMID:19022878|REF_RGD_ID:4144202 11870190 ALAD aminolevulinate dehydratase gene DOID:9008914 Lead Poisoning ISO RGD:2083 D RGD:9068941 20200609 RGD PMID:16597373|REF_RGD_ID:1599014 11870190 ALAD aminolevulinate dehydratase gene DOID:9008914 Lead Poisoning ISO RGD:2083 D RGD:9068941 20200609 RGD protein:decreased activity:blood (rat) PMID:19647414|REF_RGD_ID:4144142 11870190 ALAD aminolevulinate dehydratase gene DOID:9008914 Lead Poisoning ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21396434|PMID:23792432|PMID:24631795 11870210 KERA keratocan gene DOID:0060287 cornea plana ISO RGD:1314079 D RGD:9068941 20220825 MouseDO OMIM:121400 | OMIM:217300 11870210 KERA keratocan gene DOID:10126 keratoconus ISO RGD:1314078 D RGD:9068941 20200609 RGD RNA,protein:increased_expression:corneal_stroma:specific to keratoconus corneas PMID:11683372|REF_RGD_ID:1600400 11870210 KERA keratocan gene DOID:11342 arcus senilis ISO RGD:1314078 D RGD:9068941 20200609 RGD autosomal recessive cornea plana, OMIM:217300 DNA:point_mutation:CDS:amino acid N247S PMID:10802664|REF_RGD_ID:1600335 11870210 KERA keratocan gene DOID:2566 corneal dystrophy ISO RGD:1314078 D RGD:9068941 20200609 RGD autosomal recessive cornea plana, OMIM:217300 DNA:point_mutation:CDS:amino acid N247S PMID:10802664|REF_RGD_ID:1600335 11870210 KERA keratocan gene DOID:630 genetic disease ISO RGD:1314078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11870210 KERA keratocan gene DOID:9002263 Cornea Plana 2 ISO RGD:1314078 D RGD:7240710 20180130 OMIM 11870210 KERA keratocan gene DOID:9002263 Cornea Plana 2 ISO RGD:1314078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cornea plana 2 PMID:10802664|PMID:11726611|PMID:11754099|PMID:15370545|PMID:16157807|PMID:16234475|PMID:17011957|PMID:23834557|PMID:25741868|PMID:28492532|PMID:28799822|PMID:31059048 11870221 LRRC8E leucine rich repeat containing 8 VRAC subunit E gene DOID:0080490 mucolipidosis type IV ISO RGD:1604796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11870221 LRRC8E leucine rich repeat containing 8 VRAC subunit E gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1604796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 11870221 LRRC8E leucine rich repeat containing 8 VRAC subunit E gene DOID:2843 long QT syndrome ISO RGD:1604796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11870221 LRRC8E leucine rich repeat containing 8 VRAC subunit E gene DOID:630 genetic disease ISO RGD:1604796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870229 HOXC5 homeobox C5 gene DOID:630 genetic disease ISO RGD:1344989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870229 HOXC5 homeobox C5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11870234 EZR ezrin gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1350208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 11870234 EZR ezrin gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1350208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 11870234 EZR ezrin gene DOID:305 carcinoma ISO RGD:1350208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11870234 EZR ezrin gene DOID:630 genetic disease ISO RGD:1350208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11870234 EZR ezrin gene DOID:8398 osteoarthritis ISO RGD:1350208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11870234 EZR ezrin gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1350208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11870234 EZR ezrin gene DOID:9000965 Neoplasm Metastasis ISO RGD:1350208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27137931 11870234 EZR ezrin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11870234 EZR ezrin gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881|PMID:17566973|PMID:24763052 11870234 EZR ezrin gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1350208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11870253 BASP1 brain abundant membrane attached signal protein 1 gene DOID:305 carcinoma ISO RGD:1347703 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11870253 BASP1 brain abundant membrane attached signal protein 1 gene DOID:630 genetic disease ISO RGD:1347703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870253 BASP1 brain abundant membrane attached signal protein 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1347703 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11870253 BASP1 brain abundant membrane attached signal protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11870253 BASP1 brain abundant membrane attached signal protein 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1347703 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11870258 SH2D1B SH2 domain containing 1B gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1606747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11870258 SH2D1B SH2 domain containing 1B gene DOID:1540 parathyroid carcinoma ISO RGD:1606747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11870258 SH2D1B SH2 domain containing 1B gene DOID:630 genetic disease ISO RGD:1606747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870258 SH2D1B SH2 domain containing 1B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11870266 CAMKK2 calcium/calmodulin dependent protein kinase kinase 2 gene DOID:3070 high grade glioma disease_progression ISO RGD:737324 D RGD:9068941 20200609 RGD PMID:27012733|REF_RGD_ID:13674178 11870266 CAMKK2 calcium/calmodulin dependent protein kinase kinase 2 gene DOID:630 genetic disease ISO RGD:737324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870266 CAMKK2 calcium/calmodulin dependent protein kinase kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28634229 11870266 CAMKK2 calcium/calmodulin dependent protein kinase kinase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28634229 11870303 RAP1GDS1 Rap1 GTPase-GDP dissociation stimulator 1 gene DOID:630 genetic disease ISO RGD:1318400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870336 HPX hemopexin gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:737150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11870336 HPX hemopexin gene DOID:3021 acute kidney failure ISO RGD:737150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 11870336 HPX hemopexin gene DOID:417 autoimmune disease ISO RGD:737150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18641331 11870336 HPX hemopexin gene DOID:630 genetic disease ISO RGD:737150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870336 HPX hemopexin gene DOID:682 compartment syndrome ISO RGD:737150 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14500188 11870336 HPX hemopexin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 11870336 HPX hemopexin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 11870336 HPX hemopexin gene DOID:9352 type 2 diabetes mellitus ISO RGD:737150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16506275 11870350 SFTA2 surfactant associated 2 gene DOID:0050553 JMP syndrome ISO RGD:1347220 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11870350 SFTA2 surfactant associated 2 gene DOID:11372 megacolon ISO RGD:1347220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11870350 SFTA2 surfactant associated 2 gene DOID:630 genetic disease ISO RGD:1347220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870357 C2AH2orf78 chromosome 2A C2orf78 homolog gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:2298835 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11870357 C2AH2orf78 chromosome 2A C2orf78 homolog gene DOID:543 dystonia ISO RGD:2298835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11870357 C2AH2orf78 chromosome 2A C2orf78 homolog gene DOID:630 genetic disease ISO RGD:2298835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870357 C2AH2orf78 chromosome 2A C2orf78 homolog gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:2298835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11870364 FNIP1 folliculin interacting protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606476 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11870364 FNIP1 folliculin interacting protein 1 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1606476 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:28492532 11870364 FNIP1 folliculin interacting protein 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1606476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 11870364 FNIP1 folliculin interacting protein 1 gene DOID:5419 schizophrenia ISO RGD:1606476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11870364 FNIP1 folliculin interacting protein 1 gene DOID:630 genetic disease ISO RGD:1606476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11870364 FNIP1 folliculin interacting protein 1 gene DOID:9001635 Immunodeficiency 93 ISO RGD:1606476 D RGD:7240710 20220202 OMIM 11870364 FNIP1 folliculin interacting protein 1 gene DOID:9001635 Immunodeficiency 93 ISO RGD:1606476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 93 and hypertrophic cardiomyopathy PMID:32181500|PMID:32905580 11870364 FNIP1 folliculin interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11870364 FNIP1 folliculin interacting protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606476 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11870391 TRIM56 tripartite motif containing 56 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1342742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11870391 TRIM56 tripartite motif containing 56 gene DOID:630 genetic disease ISO RGD:1342742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870391 TRIM56 tripartite motif containing 56 gene DOID:9008533 Plasminogen Activator Inhibitor-1 Deficiency ISO RGD:1342742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY PMID:21681106 11870403 CAND2 cullin associated and neddylation dissociated 2 (putative) gene DOID:0060224 atrial fibrillation ISO RGD:733192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11870403 CAND2 cullin associated and neddylation dissociated 2 (putative) gene DOID:0060224 atrial fibrillation no_association ISO RGD:733192 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs4642101 (human) PMID:29459676|REF_RGD_ID:18899563 11870403 CAND2 cullin associated and neddylation dissociated 2 (putative) gene DOID:630 genetic disease ISO RGD:733192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870403 CAND2 cullin associated and neddylation dissociated 2 (putative) gene DOID:9001136 Familial Cerebral Cavernous Malformation ISO RGD:1551563 D RGD:9068941 20200609 RGD PMID:31426861|REF_RGD_ID:18899564 11870403 CAND2 cullin associated and neddylation dissociated 2 (putative) gene DOID:9008652 Postoperative Atrial Fibrillation ISO RGD:733192 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs4642101 (human) PMID:27203392|REF_RGD_ID:18899562 11870429 GPA33 glycoprotein A33 gene DOID:1540 parathyroid carcinoma ISO RGD:1315484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11870429 GPA33 glycoprotein A33 gene DOID:630 genetic disease ISO RGD:1315484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870429 GPA33 glycoprotein A33 gene DOID:9007432 Latent Tuberculosis ISO RGD:1315484 D RGD:9068941 20210212 RGD mRNA, protein:decreased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human) PMID:29602771|REF_RGD_ID:41404732 11870429 GPA33 glycoprotein A33 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11870441 ALKBH5 alkB homolog 5, RNA demethylase gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1603209 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 11870441 ALKBH5 alkB homolog 5, RNA demethylase gene DOID:0050777 Joubert syndrome ISO RGD:1603209 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11870441 ALKBH5 alkB homolog 5, RNA demethylase gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1603209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 11870441 ALKBH5 alkB homolog 5, RNA demethylase gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1603209 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 11870441 ALKBH5 alkB homolog 5, RNA demethylase gene DOID:10591 pre-eclampsia ISO RGD:1603209 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34995009 11870441 ALKBH5 alkB homolog 5, RNA demethylase gene DOID:12849 autistic disorder ISO RGD:1603209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11870441 ALKBH5 alkB homolog 5, RNA demethylase gene DOID:630 genetic disease ISO RGD:1603209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870441 ALKBH5 alkB homolog 5, RNA demethylase gene DOID:9538 multiple myeloma ISO RGD:1603209 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038059 11870449 MRPL35 mitochondrial ribosomal protein L35 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1316034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 11870449 MRPL35 mitochondrial ribosomal protein L35 gene DOID:630 genetic disease ISO RGD:1316034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870449 MRPL35 mitochondrial ribosomal protein L35 gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1316034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 11870461 LRRC15 leucine rich repeat containing 15 gene DOID:630 genetic disease ISO RGD:733250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870472 PI16 peptidase inhibitor 16 gene DOID:0050553 JMP syndrome ISO RGD:1312389 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11870472 PI16 peptidase inhibitor 16 gene DOID:630 genetic disease ISO RGD:1312389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870487 RGS16 regulator of G protein signaling 16 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1343291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 11870487 RGS16 regulator of G protein signaling 16 gene DOID:0080600 COVID-19 ISO RGD:1343291 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11870487 RGS16 regulator of G protein signaling 16 gene DOID:1540 parathyroid carcinoma ISO RGD:1343291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11870487 RGS16 regulator of G protein signaling 16 gene DOID:630 genetic disease ISO RGD:1343291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870487 RGS16 regulator of G protein signaling 16 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1343291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11870487 RGS16 regulator of G protein signaling 16 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11870502 AHNAK AHNAK nucleoprotein gene DOID:0080600 COVID-19 ISO RGD:1345625 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 11870502 AHNAK AHNAK nucleoprotein gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1345625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11870502 AHNAK AHNAK nucleoprotein gene DOID:10487 Hirschsprung's disease ISO RGD:1345625 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:28492532 11870502 AHNAK AHNAK nucleoprotein gene DOID:1059 intellectual disability ISO RGD:1345625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11870502 AHNAK AHNAK nucleoprotein gene DOID:11372 megacolon ISO RGD:1345625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11870502 AHNAK AHNAK nucleoprotein gene DOID:417 autoimmune disease ISO RGD:619779 D RGD:9068941 20200609 RGD PMID:11866458|REF_RGD_ID:625427 11870502 AHNAK AHNAK nucleoprotein gene DOID:4450 renal cell carcinoma ISO RGD:1345625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 11870502 AHNAK AHNAK nucleoprotein gene DOID:630 genetic disease ISO RGD:1345625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11870502 AHNAK AHNAK nucleoprotein gene DOID:9001341 Chloracne ISO RGD:1345625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 11870502 AHNAK AHNAK nucleoprotein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11870502 AHNAK AHNAK nucleoprotein gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1345625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20388789 11870512 FZD6 frizzled class receptor 6 gene DOID:0080079 nonsyndromic congenital nail disorder 1 ISO RGD:1343855 D RGD:7240710 20200408 OMIM 11870512 FZD6 frizzled class receptor 6 gene DOID:0080079 nonsyndromic congenital nail disorder 1 ISO RGD:1343855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 1 PMID:21665003|PMID:22211385|PMID:23374899|PMID:25741868|PMID:26036949 11870512 FZD6 frizzled class receptor 6 gene DOID:0111590 Cohen syndrome ISO RGD:1343855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 11870512 FZD6 frizzled class receptor 6 gene DOID:13938 amenorrhea ISO RGD:1343855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11870512 FZD6 frizzled class receptor 6 gene DOID:2154 nephroblastoma ISO RGD:1343855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephroblastoma PMID:26822237 11870512 FZD6 frizzled class receptor 6 gene DOID:4123 nail disease ISO RGD:1343855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nail disease PMID:21665003|PMID:22211385 11870512 FZD6 frizzled class receptor 6 gene DOID:630 genetic disease ISO RGD:1343855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870512 FZD6 frizzled class receptor 6 gene DOID:9008386 Hydrops Fetalis ISO RGD:1343855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868|PMID:26036949 11870524 RNF167 ring finger protein 167 gene DOID:0050941 spastic ataxia 2 ISO RGD:1348849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 11870524 RNF167 ring finger protein 167 gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:1348849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 11870524 RNF167 ring finger protein 167 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1348849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect 11870524 RNF167 ring finger protein 167 gene DOID:630 genetic disease ISO RGD:1348849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870562 STMN1 stathmin 1 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:68960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 11870562 STMN1 stathmin 1 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:68960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 11870562 STMN1 stathmin 1 gene DOID:305 carcinoma ISO RGD:68960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11870562 STMN1 stathmin 1 gene DOID:3070 high grade glioma ISO RGD:68960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17440165 11870562 STMN1 stathmin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:68960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11870562 STMN1 stathmin 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:68960 D RGD:9068941 20200609 RGD PMID:28982915|REF_RGD_ID:21408578 11870562 STMN1 stathmin 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:68960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11870562 STMN1 stathmin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17455228 11870562 STMN1 stathmin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:68960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11870562 STMN1 stathmin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:68960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 11870581 SSR2 signal sequence receptor subunit 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1318091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11870581 SSR2 signal sequence receptor subunit 2 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1318091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 11870581 SSR2 signal sequence receptor subunit 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1318091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11870581 SSR2 signal sequence receptor subunit 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1318091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11870581 SSR2 signal sequence receptor subunit 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1318091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11870581 SSR2 signal sequence receptor subunit 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1318091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11870581 SSR2 signal sequence receptor subunit 2 gene DOID:5812 MHC class II deficiency ISO RGD:1318091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11870581 SSR2 signal sequence receptor subunit 2 gene DOID:630 genetic disease ISO RGD:1318091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870581 SSR2 signal sequence receptor subunit 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11870581 SSR2 signal sequence receptor subunit 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11870591 RAB4B RAB4B, member RAS oncogene family gene DOID:1339 Diamond-Blackfan anemia ISO RGD:733928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:28492532 11870591 RAB4B RAB4B, member RAS oncogene family gene DOID:1342 congenital hypoplastic anemia ISO RGD:733928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11870591 RAB4B RAB4B, member RAS oncogene family gene DOID:2340 craniosynostosis ISO RGD:733928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11870591 RAB4B RAB4B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:733928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870591 RAB4B RAB4B, member RAS oncogene family gene DOID:9002304 Prostatic Neoplasms ISO RGD:733928 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11870591 RAB4B RAB4B, member RAS oncogene family gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:733928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11870591 RAB4B RAB4B, member RAS oncogene family gene DOID:9269 maple syrup urine disease ISO RGD:733928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11870606 TEF TEF transcription factor, PAR bZIP family member gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1345103 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11870606 TEF TEF transcription factor, PAR bZIP family member gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1345103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 11870606 TEF TEF transcription factor, PAR bZIP family member gene DOID:630 genetic disease ISO RGD:1345103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870620 EXT1 exostosin glycosyltransferase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1313967 D RGD:9068941 20220825 MouseDO 11870620 EXT1 exostosin glycosyltransferase 1 gene DOID:10907 microcephaly ISO RGD:1313966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24728327|PMID:25741868|PMID:28492532 11870620 EXT1 exostosin glycosyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:1313966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12032595 11870620 EXT1 exostosin glycosyltransferase 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1313966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11870620 EXT1 exostosin glycosyltransferase 1 gene DOID:1612 breast cancer ISO RGD:1313966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:28492532 11870620 EXT1 exostosin glycosyltransferase 1 gene DOID:206 hereditary multiple exostoses ISO RGD:1313966 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Multiple Osteochondromatosis | ClinVar Annotator: match by term: Multiple congenital exostosis PMID:10480354|PMID:10639137|PMID:10679296|PMID:10679937|PMID:10713884|PMID:11170095|PMID:11342960|PMID:11391482|PMID:11432960|PMID:11668521|PMID:12032595|PMID:12239711|PMID:12490068|PMID:15221792|PMID:15253765|PMID:15586175|PMID:16088908|PMID:16199547|PMID:16283885|PMID:17041877|PMID:17301954|PMID:17576681|PMID:17589361|PMID:1816274|PMID:18165274|PMID:18330718|PMID:18373409|PMID:18976157|PMID:19344451|PMID:19810120|PMID:19819120|PMID:19839753|PMID:20025490|PMID:20418910|PMID:21039224|PMID:21499719|PMID:21520333|PMID:21703028|PMID:22258776|PMID:22382802|PMID:22820392|PMID:22913777|PMID:23262345|PMID:23439489|PMID:23629877|PMID:24120389|PMID:24496678|PMID:24532482|PMID:24728327|PMID:25230886|PMID:25468659|PMID:25520924|PMID:25525159|PMID:25541963|PMID:25640679|PMID:25727835|PMID:25741868|PMID:26239617|PMID:26515642|PMID:26622573|PMID:26690531|PMID:26839764|PMID:26961984|PMID:28492532|PMID:28600779|PMID:28604967|PMID:28690282|PMID:29126381|PMID:29529714|PMID:29620724|PMID:29989442|PMID:30334991|PMID:30806661|PMID:31096510|PMID:33726816|PMID:7550340|PMID:8981950|PMID:9150727|PMID:9326317|PMID:9463333|PMID:9521425|PMID:9536098|PMID:9620772 11870620 EXT1 exostosin glycosyltransferase 1 gene DOID:2394 ovarian cancer ISO RGD:1313966 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 11870620 EXT1 exostosin glycosyltransferase 1 gene DOID:3371 chondrosarcoma ISO RGD:1313966 D RGD:7240710 20180130 OMIM 11870620 EXT1 exostosin glycosyltransferase 1 gene DOID:3371 chondrosarcoma ISO RGD:1313966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chondrosarcoma PMID:10679937|PMID:11170095|PMID:11391482|PMID:15586175|PMID:17301954|PMID:18165274|PMID:19810120|PMID:25468659|PMID:25541963|PMID:25741868|PMID:28492532|PMID:8981950|PMID:9521425 11870620 EXT1 exostosin glycosyltransferase 1 gene DOID:4624 Ollier disease ISO RGD:1313966 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: OSTEOCHONDROMATOSIS PMID:10639137|PMID:10679296|PMID:10679937|PMID:10713884|PMID:11391482|PMID:11432960|PMID:15253765|PMID:16088908|PMID:16199547|PMID:16283885|PMID:17041877|PMID:18165274|PMID:18330718|PMID:19810120|PMID:20418910|PMID:22258776|PMID:23262345|PMID:23439489|PMID:24532482|PMID:25230886|PMID:25468659|PMID:25741868|PMID:26239617|PMID:26515642|PMID:26961984|PMID:28492532|PMID:29126381|PMID:29529714|PMID:30334991|PMID:30806661|PMID:7550340|PMID:8981950|PMID:9326317|PMID:9463333|PMID:9521425|PMID:9620772 11870620 EXT1 exostosin glycosyltransferase 1 gene DOID:4998 trichorhinophalangeal syndrome type II ISO RGD:1313966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Langer-Giedion syndrome PMID:17301954|PMID:24728327|PMID:28492532 11870620 EXT1 exostosin glycosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1313966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10639137|PMID:10679296|PMID:11391482|PMID:11432960|PMID:16283885|PMID:18165274|PMID:18330718|PMID:19810120|PMID:20418910|PMID:22258776|PMID:23262345|PMID:25230886|PMID:25741868|PMID:26239617|PMID:26961984|PMID:28492532|PMID:8981950|PMID:9326317|PMID:9463333|PMID:9521425|PMID:9620772 11870620 EXT1 exostosin glycosyltransferase 1 gene DOID:9002644 Premature Aging ISO RGD:1587375 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain (rat) PMID:22339633|REF_RGD_ID:13208511 11870620 EXT1 exostosin glycosyltransferase 1 gene DOID:9003050 Multiple Exostoses Type I ISO RGD:1313966 D RGD:7240710 20180130 OMIM 11870620 EXT1 exostosin glycosyltransferase 1 gene DOID:9003050 Multiple Exostoses Type I ISO RGD:1313966 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I PMID:10639137|PMID:10679296|PMID:10679937|PMID:10713884|PMID:11391482|PMID:11432960|PMID:15253765|PMID:16088908|PMID:16199547|PMID:16283885|PMID:17041877|PMID:18165274|PMID:18330718|PMID:19810120|PMID:20418910|PMID:22258776|PMID:23262345|PMID:23439489|PMID:24532482|PMID:25230886|PMID:25468659|PMID:25741868|PMID:26239617|PMID:26515642|PMID:26961984|PMID:28492532|PMID:29126381|PMID:29529714|PMID:30334991|PMID:30806661|PMID:7550340|PMID:8981950|PMID:9326317|PMID:9463333|PMID:9521425|PMID:9620772 11870620 EXT1 exostosin glycosyltransferase 1 gene DOID:9005285 Osteochondromatosis ISO RGD:1313966 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: OSTEOCHONDROMATOSIS PMID:10639137|PMID:10679296|PMID:10679937|PMID:10713884|PMID:11391482|PMID:11432960|PMID:15253765|PMID:16088908|PMID:16199547|PMID:16283885|PMID:17041877|PMID:18165274|PMID:18330718|PMID:19810120|PMID:20418910|PMID:22258776|PMID:23262345|PMID:23439489|PMID:24532482|PMID:25230886|PMID:25468659|PMID:25741868|PMID:26239617|PMID:26515642|PMID:26961984|PMID:28492532|PMID:29126381|PMID:29529714|PMID:30334991|PMID:30806661|PMID:7550340|PMID:8981950|PMID:9326317|PMID:9463333|PMID:9521425|PMID:9620772 11870620 EXT1 exostosin glycosyltransferase 1 gene DOID:9005344 Combined Pituitary Hormone Deficiency 1 ISO RGD:1313966 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 PMID:25741868 11870636 LRRD1 leucine rich repeats and death domain containing 1 gene DOID:0060669 cerebral cavernous malformation ISO RGD:5132687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 11870636 LRRD1 leucine rich repeats and death domain containing 1 gene DOID:2843 long QT syndrome ISO RGD:5132687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11870636 LRRD1 leucine rich repeats and death domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:5132687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11870636 LRRD1 leucine rich repeats and death domain containing 1 gene DOID:630 genetic disease ISO RGD:5132687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870656 SMAP2 small ArfGAP2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1601981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11870656 SMAP2 small ArfGAP2 gene DOID:630 genetic disease ISO RGD:1601981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870670 ITGA7 integrin subunit alpha 7 gene DOID:0050700 cardiomyopathy treatment ISO RGD:71022 D RGD:9068941 20200609 RGD PMID:15632017|REF_RGD_ID:13601980 11870670 ITGA7 integrin subunit alpha 7 gene DOID:0080000 muscular disease ISO RGD:734343 D RGD:9068941 20200609 RGD PMID:9590299|REF_RGD_ID:1600024 11870670 ITGA7 integrin subunit alpha 7 gene DOID:0080600 COVID-19 ISO RGD:734343 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11870670 ITGA7 integrin subunit alpha 7 gene DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency ISO RGD:734343 D RGD:7240710 20180130 OMIM 11870670 ITGA7 integrin subunit alpha 7 gene DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency ISO RGD:734343 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, ITGA7-related | ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency PMID:12057917|PMID:16199547|PMID:17576681|PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532|PMID:31785789|PMID:9536098|PMID:9590299 11870670 ITGA7 integrin subunit alpha 7 gene DOID:11723 Duchenne muscular dystrophy treatment ISO RGD:734343 D RGD:9068941 20200609 RGD PMID:23319059|REF_RGD_ID:13601981 11870670 ITGA7 integrin subunit alpha 7 gene DOID:2349 arteriosclerosis ISO RGD:71022 D RGD:9068941 20200609 RGD Atherogenesis PMID:14988073|REF_RGD_ID:1600025 11870670 ITGA7 integrin subunit alpha 7 gene DOID:630 genetic disease ISO RGD:734343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11870670 ITGA7 integrin subunit alpha 7 gene DOID:9002928 Colonic Neoplasms ISO RGD:734343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 11870718 CCNG2 cyclin G2 gene DOID:11934 head and neck cancer ISO RGD:1312769 D RGD:9068941 20220303 RGD mRNA:decreased expression:head and neck (human) PMID:27982046|REF_RGD_ID:151361200 11870718 CCNG2 cyclin G2 gene DOID:1993 rectum cancer ISO RGD:1312769 D RGD:9068941 20220303 RGD mRNA:decreased expression:colon,rectum (human) PMID:27982046|REF_RGD_ID:151361200 11870718 CCNG2 cyclin G2 gene DOID:219 colon cancer ISO RGD:1312769 D RGD:9068941 20220303 RGD mRNA:decreased expression:colon,rectum (human) PMID:27982046|REF_RGD_ID:151361200 11870718 CCNG2 cyclin G2 gene DOID:630 genetic disease ISO RGD:1312769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870718 CCNG2 cyclin G2 gene DOID:684 hepatocellular carcinoma ISO RGD:1312770 D RGD:9068941 20220303 RGD PMID:27982046|REF_RGD_ID:151361200 11870718 CCNG2 cyclin G2 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1312769 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11870718 CCNG2 cyclin G2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1312770 D RGD:9068941 20220303 RGD PMID:27982046|REF_RGD_ID:151361200 11870733 IL17C interleukin 17C gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1351651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 11870733 IL17C interleukin 17C gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1351651 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11870733 IL17C interleukin 17C gene DOID:14780 KBG syndrome ISO RGD:1351651 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 11870733 IL17C interleukin 17C gene DOID:630 genetic disease ISO RGD:1351651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870733 IL17C interleukin 17C gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1351651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 11870746 NDST3 N-deacetylase and N-sulfotransferase 3 gene DOID:630 genetic disease ISO RGD:1322156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870746 NDST3 N-deacetylase and N-sulfotransferase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11870769 C1QTNF3 C1q and TNF related 3 gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:1312783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:28492532 11870769 C1QTNF3 C1q and TNF related 3 gene DOID:630 genetic disease ISO RGD:1312783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870769 C1QTNF3 C1q and TNF related 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11870787 CUL7 cullin 7 gene DOID:0050444 infantile Refsum disease ISO RGD:1314380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11870787 CUL7 cullin 7 gene DOID:0060241 3-M syndrome ISO RGD:1314380 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 3-M syndrome | ClinVar Annotator: match by term: Yakut short stature syndrome PMID:16142236|PMID:17675530|PMID:19225462|PMID:21396581|PMID:21548126|PMID:23018678|PMID:23900270|PMID:24793695|PMID:24793696|PMID:25741868|PMID:28492532|PMID:28969986|PMID:31343991|PMID:31589614|PMID:34006472 11870787 CUL7 cullin 7 gene DOID:12849 autistic disorder ISO RGD:1314380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25961944 11870787 CUL7 cullin 7 gene DOID:4450 renal cell carcinoma ISO RGD:1314380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 11870787 CUL7 cullin 7 gene DOID:630 genetic disease ISO RGD:1314380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16142236|PMID:16199547|PMID:17675530|PMID:19225462|PMID:21396581|PMID:25741868|PMID:28492532 11870787 CUL7 cullin 7 gene DOID:9005349 Three M Syndrome 1 ISO RGD:1314380 D RGD:7240710 20190327 OMIM 11870787 CUL7 cullin 7 gene DOID:9005349 Three M Syndrome 1 ISO RGD:1314380 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 3M syndrome 1 PMID:16142236|PMID:17675530|PMID:19225462|PMID:21383554|PMID:21396581|PMID:22325252|PMID:23018678|PMID:23900270|PMID:24793695|PMID:24793696|PMID:25741868|PMID:27182040|PMID:28492532|PMID:28969986|PMID:30980518|PMID:31343991|PMID:31589614|PMID:34006472 11870787 CUL7 cullin 7 gene DOID:9007661 Dwarfism ISO RGD:1314380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:28492532 11870787 CUL7 cullin 7 gene DOID:905 Zellweger syndrome ISO RGD:1314380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11870830 AXIN2 axin 2 gene DOID:0050424 familial adenomatous polyposis ISO RGD:1349667 D RGD:9068941 20220210 RGD protein:increased expression:mucosa: PMID:11809809|REF_RGD_ID:151356508 11870830 AXIN2 axin 2 gene DOID:0050567 orofacial cleft ISO RGD:1349667 D RGD:9068941 20220210 RGD DNA:SNP:cds:rs2240308(p.P50S)(human) PMID:19119171|REF_RGD_ID:151356509 11870830 AXIN2 axin 2 gene DOID:0050591 tooth agenesis ISO RGD:1349667 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Oligodontia PMID:15042511|PMID:21416598|PMID:21626677|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27300758|PMID:28492532|PMID:28944238|PMID:29371908|PMID:30374176 11870830 AXIN2 axin 2 gene DOID:0050866 oral squamous cell carcinoma ameliorates ISO RGD:1349667 D RGD:9068941 20220210 RGD PMID:33046030|REF_RGD_ID:151356656 11870830 AXIN2 axin 2 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1349667 D RGD:9068941 20220210 RGD PMID:33046030|REF_RGD_ID:151356656 11870830 AXIN2 axin 2 gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:1349667 D RGD:9068941 20211217 RGD DNA:SNP:intron: C>T (rs3923087)(human) PMID:21393552|REF_RGD_ID:150530486 11870830 AXIN2 axin 2 gene DOID:0050912 colon adenoma ISO RGD:1349667 D RGD:9068941 20220210 RGD protein:increased expression:: PMID:11809809|REF_RGD_ID:151356508 11870830 AXIN2 axin 2 gene DOID:0080199 colorectal carcinoma ISO RGD:1349667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal carcinoma PMID:15042511|PMID:16199547|PMID:21416598|PMID:25741868|PMID:28492532 11870830 AXIN2 axin 2 gene DOID:0111349 hereditary desmoid disease ISO RGD:1349667 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fibromatosis, familial infiltrative PMID:25741868|PMID:28492532 11870830 AXIN2 axin 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1349667 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hirschsprung disease PMID:21626677|PMID:25260786|PMID:25637381|PMID:25741868|PMID:27696107|PMID:28492532|PMID:29641532 11870830 AXIN2 axin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1349667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11870830 AXIN2 axin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:69259 D RGD:9068941 20220217 RGD protein:decreased expression:lung PMID:33092439|REF_RGD_ID:151356921 11870830 AXIN2 axin 2 gene DOID:1324 lung cancer susceptibility ISO RGD:1349667 D RGD:9068941 20220210 RGD DNA:SNP:exon:148T>C(rs2240308)(human) PMID:25091576|REF_RGD_ID:151356659 11870830 AXIN2 axin 2 gene DOID:1324 lung cancer susceptibility ISO RGD:1349667 D RGD:9068941 20220210 RGD DNA:SNPs:exons,introns: PMID:28378643|REF_RGD_ID:151356504 11870830 AXIN2 axin 2 gene DOID:13714 anodontia ISO RGD:1349667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic oligodontia PMID:26406231 11870830 AXIN2 axin 2 gene DOID:14330 Parkinson's disease ameliorates ISO RGD:69259 D RGD:9068941 20220217 RGD PMID:31078578|REF_RGD_ID:151356747 11870830 AXIN2 axin 2 gene DOID:1520 colon carcinoma ISO RGD:1349667 D RGD:8554872 20230117 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:11017067|PMID:15042511|PMID:21416598|PMID:21472303|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29641532 11870830 AXIN2 axin 2 gene DOID:1612 breast cancer ISO RGD:1349667 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm PMID:21541676|PMID:25236910|PMID:26467025|PMID:28492532|PMID:29114927|PMID:29641532|PMID:33558524 11870830 AXIN2 axin 2 gene DOID:224 transient cerebral ischemia treatment ISO RGD:69259 D RGD:9068941 20220217 RGD PMID:31650542|REF_RGD_ID:151356749 11870830 AXIN2 axin 2 gene DOID:2340 craniosynostosis ISO RGD:1349667 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Craniosynostosis PMID:25741868|PMID:28492532 11870830 AXIN2 axin 2 gene DOID:2394 ovarian cancer ISO RGD:1349667 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532|PMID:29641532|PMID:30262796 11870830 AXIN2 axin 2 gene DOID:2870 endometrial adenocarcinoma ISO RGD:733705 D RGD:9068941 20200609 RGD PMID:11940574|REF_RGD_ID:13432156 11870830 AXIN2 axin 2 gene DOID:3121 gallbladder cancer disease_progression ISO RGD:1349667 D RGD:9068941 20220210 RGD DNA:SNP::s4791171(human) PMID:26715268|REF_RGD_ID:151356500 11870830 AXIN2 axin 2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1349667 D RGD:9068941 20220211 RGD DNA:SNPs::1712 +19 G>A,148 C>T(human) PMID:30346805|REF_RGD_ID:151356655 11870830 AXIN2 axin 2 gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1349667 D RGD:9068941 20220210 RGD DNA:SNP:cds:p.P50S(human) PMID:16820935|REF_RGD_ID:151356657 11870830 AXIN2 axin 2 gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:1349667 D RGD:9068941 20220211 RGD DNA:SNP::1386 C>T(human) PMID:30346805|REF_RGD_ID:151356655 11870830 AXIN2 axin 2 gene DOID:630 genetic disease ISO RGD:1349667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11870830 AXIN2 axin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1349667 D RGD:9068941 20220210 RGD protein:increased expression:liver: PMID:11809809|REF_RGD_ID:151356508 11870830 AXIN2 axin 2 gene DOID:687 hepatoblastoma ISO RGD:1349667 D RGD:9068941 20220210 RGD protein:increased expression:liver: PMID:11809809|REF_RGD_ID:151356508 11870830 AXIN2 axin 2 gene DOID:9000156 Metaplasia ISO RGD:735540 D RGD:9068941 20200609 RGD associated with Granulosa Cell Tumor;mRNA:increased expression:ovary PMID:16488995|REF_RGD_ID:1643593 11870830 AXIN2 axin 2 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:69259 D RGD:9068941 20220217 RGD PMID:21935365|REF_RGD_ID:9685370 11870830 AXIN2 axin 2 gene DOID:9001642 Intestinal Polyps ISO RGD:735540 D RGD:9068941 20220210 RGD protein:increased expression:small intestinal polyps: PMID:11809809|REF_RGD_ID:151356508 11870830 AXIN2 axin 2 gene DOID:9001820 Pulmonary Arterial Hypertension exacerbates ISO RGD:69259 D RGD:9068941 20220217 RGD PMID:28694128|REF_RGD_ID:151356920 11870830 AXIN2 axin 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:1349667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21188121 11870830 AXIN2 axin 2 gene DOID:9006205 Animal Disease Models ISO RGD:1349667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11870830 AXIN2 axin 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349667 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11017067|PMID:12101426|PMID:15042511|PMID:15841489|PMID:16199547|PMID:16820935|PMID:16941501|PMID:17373666|PMID:17576681|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21520333|PMID:21541676|PMID:21626677|PMID:23838596|PMID:24033266|PMID:24581859|PMID:25151137|PMID:25236910|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26681312|PMID:27009842|PMID:27090353|PMID:27300758|PMID:27491081|PMID:27696107|PMID:28265457|PMID:28492532|PMID:28577310|PMID:28717660|PMID:28944238|PMID:29114927|PMID:29212164|PMID:29341116|PMID:29371908|PMID:29446198|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30262796|PMID:30322717|PMID:30374176|PMID:30555066|PMID:30760879|PMID:30822429|PMID:31285513|PMID:31769227|PMID:32807118|PMID:32984025|PMID:33193653|PMID:33359728|PMID:33558524|PMID:33606809|PMID:33725141|PMID:34817745|PMID:9536098 11870830 AXIN2 axin 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349667 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11017067|PMID:12101426|PMID:15042511|PMID:15735151|PMID:15841489|PMID:16199547|PMID:16820935|PMID:16941501|PMID:17373666|PMID:17576681|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21520333|PMID:21541676|PMID:21626677|PMID:22581971|PMID:23838596|PMID:24033266|PMID:24581859|PMID:25151137|PMID:25236910|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26681312|PMID:27009842|PMID:27090353|PMID:27153395|PMID:27300758|PMID:27491081|PMID:27696107|PMID:28265457|PMID:28492532|PMID:28577310|PMID:28717660|PMID:28944238|PMID:29114927|PMID:29212164|PMID:29341116|PMID:29371908|PMID:29446198|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30262796|PMID:30322717|PMID:30374176|PMID:30555066|PMID:30760879|PMID:30822429|PMID:31285513|PMID:31769227|PMID:32807118|PMID:32984025|PMID:33193653|PMID:33359728|PMID:33558524|PMID:33606809|PMID:33725141|PMID:34817745|PMID:35014770|PMID:9536098 11870830 AXIN2 axin 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1349667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11870830 AXIN2 axin 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:1349667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11870830 AXIN2 axin 2 gene DOID:9007387 Oligodontia-Colorectal Cancer Syndrome ISO RGD:1349667 D RGD:7240710 20180130 OMIM 11870830 AXIN2 axin 2 gene DOID:9007387 Oligodontia-Colorectal Cancer Syndrome ISO RGD:1349667 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: AXIN2-related attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome | ClinVar Annotator: match by term: TOOTH AGENESIS-COLORECTAL CANCER SYNDROME PMID:10330403|PMID:11017067|PMID:12101426|PMID:15042511|PMID:15735151|PMID:15841489|PMID:16199547|PMID:16820935|PMID:16941501|PMID:17373666|PMID:17576681|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21520333|PMID:21541676|PMID:21626677|PMID:22581971|PMID:23169527|PMID:23838596|PMID:24033266|PMID:24581859|PMID:25151137|PMID:25236910|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26681312|PMID:27009842|PMID:27090353|PMID:27153395|PMID:27234654|PMID:27300758|PMID:27491081|PMID:27696107|PMID:28265457|PMID:28492532|PMID:28577310|PMID:28717660|PMID:28944238|PMID:29114927|PMID:29212164|PMID:29341116|PMID:29371908|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30262796|PMID:30322717|PMID:30374176|PMID:30555066|PMID:30760879|PMID:30822429|PMID:31285513|PMID:31769227|PMID:32807118|PMID:32984025|PMID:33193653|PMID:33359728|PMID:33558524|PMID:33606809|PMID:33725141|PMID:34817745|PMID:35014770|PMID:9536098 11870830 AXIN2 axin 2 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1349667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:28492532 11870830 AXIN2 axin 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1349667 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 11870830 AXIN2 axin 2 gene DOID:9256 colorectal cancer ISO RGD:1349667 D RGD:7240710 20200226 OMIM 11870830 AXIN2 axin 2 gene DOID:9256 colorectal cancer ISO RGD:1349667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:21626677|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27696107|PMID:28492532|PMID:29371908|PMID:29641532 11870830 AXIN2 axin 2 gene DOID:9256 colorectal cancer ISO RGD:1349667 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:15042511|PMID:21416598|PMID:21626677|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27300758|PMID:27696107|PMID:28492532|PMID:28944238|PMID:29371908|PMID:29641532|PMID:30374176|PMID:33558524|PMID:33725141|PMID:34817745 11870830 AXIN2 axin 2 gene DOID:9256 colorectal cancer ISO RGD:1349667 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12101426|PMID:15042511|PMID:16941501|PMID:17373666|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21626677|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27300758|PMID:27696107|PMID:28492532|PMID:28717660|PMID:28944238|PMID:29371908|PMID:29641532|PMID:30374176|PMID:33193653|PMID:33558524|PMID:33725141|PMID:34817745 11870830 AXIN2 axin 2 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1349667 D RGD:9068941 20220210 RGD DNA:SNP::rs2240308, c.148G>A(human) PMID:31632692|REF_RGD_ID:151356510 11870830 AXIN2 axin 2 gene DOID:9256 colorectal cancer treatment ISO RGD:1349667 D RGD:9068941 20220210 RGD PMID:29534875|REF_RGD_ID:151356662 11870830 AXIN2 axin 2 gene DOID:9655 oral mucosa leukoplakia disease_progression ISO RGD:1349667 D RGD:9068941 20220210 RGD PMID:28939076|REF_RGD_ID:151356661 11870852 KLC3 kinesin light chain 3 gene DOID:0050427 xeroderma pigmentosum ISO RGD:1604744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum 11870852 KLC3 kinesin light chain 3 gene DOID:0080912 cerebrooculofacioskeletal syndrome 2 ISO RGD:1604744 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2 PMID:25741868 11870852 KLC3 kinesin light chain 3 gene DOID:0110845 xeroderma pigmentosum group D ISO RGD:1604744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group D PMID:25741868 11870852 KLC3 kinesin light chain 3 gene DOID:630 genetic disease ISO RGD:1604744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870885 C12H12orf43 chromosome 12 C12orf43 homolog gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:1603965 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10588527|PMID:23348805|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31517624|PMID:32238361|PMID:32395877|PMID:35328643|PMID:35673428|PMID:9626139 11870885 C12H12orf43 chromosome 12 C12orf43 homolog gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1603965 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25057215 11870885 C12H12orf43 chromosome 12 C12orf43 homolog gene DOID:0111102 maturity-onset diabetes of the young type 3 ISO RGD:1603965 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 3 PMID:10333057|PMID:10482964|PMID:10588527|PMID:12488962|PMID:12530534|PMID:23348805|PMID:24728327|PMID:25057215|PMID:25414397|PMID:25741868|PMID:26287533|PMID:26467025|PMID:28492532|PMID:31517624|PMID:32238361|PMID:32395877|PMID:35299962|PMID:35328643|PMID:35673428|PMID:36257325|PMID:9075818|PMID:9562352|PMID:9626139 11870885 C12H12orf43 chromosome 12 C12orf43 homolog gene DOID:11714 gestational diabetes ISO RGD:1603965 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gestational diabetes PMID:35299962|PMID:9562352 11870885 C12H12orf43 chromosome 12 C12orf43 homolog gene DOID:2394 ovarian cancer ISO RGD:1603965 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:10588527|PMID:23348805|PMID:24728327|PMID:25741868|PMID:26467025|PMID:32238361 11870885 C12H12orf43 chromosome 12 C12orf43 homolog gene DOID:630 genetic disease ISO RGD:1603965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870885 C12H12orf43 chromosome 12 C12orf43 homolog gene DOID:9000149 Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive ISO RGD:1603965 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive PMID:30561130 11870885 C12H12orf43 chromosome 12 C12orf43 homolog gene DOID:9351 diabetes mellitus ISO RGD:1603965 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10333057|PMID:10482964|PMID:12488962|PMID:12530534|PMID:24728327|PMID:25414397|PMID:25741868|PMID:26287533|PMID:30561130|PMID:31517624|PMID:32395877|PMID:35328643|PMID:35673428|PMID:36257325|PMID:9075818 11870885 C12H12orf43 chromosome 12 C12orf43 homolog gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603965 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25057215 11870885 C12H12orf43 chromosome 12 C12orf43 homolog gene DOID:9744 type 1 diabetes mellitus ISO RGD:1603965 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 1 PMID:25741868 11870905 SH3PXD2B SH3 and PX domains 2B gene DOID:0080006 bone development disease ISO RGD:1349978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19669234 11870905 SH3PXD2B SH3 and PX domains 2B gene DOID:0080600 COVID-19 ISO RGD:1349978 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11870905 SH3PXD2B SH3 and PX domains 2B gene DOID:0111789 Frank-Ter Haar syndrome ISO RGD:1349978 D RGD:7240710 20180130 OMIM 11870905 SH3PXD2B SH3 and PX domains 2B gene DOID:0111789 Frank-Ter Haar syndrome ISO RGD:1349978 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Frank-Ter Haar syndrome PMID:15523657|PMID:20137777|PMID:22509100|PMID:23140272|PMID:24105366|PMID:25741868|PMID:28492532|PMID:29276006|PMID:31931872|PMID:31978614|PMID:7158646|PMID:8484415 11870905 SH3PXD2B SH3 and PX domains 2B gene DOID:10754 otitis media ISO RGD:1320533 D RGD:9068941 20220825 MouseDO OMIM:166760 11870905 SH3PXD2B SH3 and PX domains 2B gene DOID:13550 angle-closure glaucoma ISO RGD:1349978 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:28719234 11870905 SH3PXD2B SH3 and PX domains 2B gene DOID:1686 glaucoma ISO RGD:1320533 D RGD:9068941 20220825 MouseDO 11870905 SH3PXD2B SH3 and PX domains 2B gene DOID:630 genetic disease ISO RGD:1349978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29620724|PMID:35205281 11870905 SH3PXD2B SH3 and PX domains 2B gene DOID:9004538 Hearing Loss ISO RGD:1349978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19669234 11870905 SH3PXD2B SH3 and PX domains 2B gene DOID:9006205 Animal Disease Models ISO RGD:1349978 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:28719234 11870905 SH3PXD2B SH3 and PX domains 2B gene DOID:9006257 Growth Disorders ISO RGD:1349978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19669234 11870905 SH3PXD2B SH3 and PX domains 2B gene DOID:9008296 Eye Abnormalities ISO RGD:1349978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19669234 11870905 SH3PXD2B SH3 and PX domains 2B gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1349978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19669234 11870905 SH3PXD2B SH3 and PX domains 2B gene DOID:9282 ocular hypertension ISO RGD:1349978 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:28719234 11870922 NME5 NME/NM23 family member 5 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1343010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11870922 NME5 NME/NM23 family member 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343010 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11870922 NME5 NME/NM23 family member 5 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1343010 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 11870922 NME5 NME/NM23 family member 5 gene DOID:10908 hydrocephalus ISO RGD:1623132 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 11870922 NME5 NME/NM23 family member 5 gene DOID:630 genetic disease ISO RGD:1343010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870922 NME5 NME/NM23 family member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11870922 NME5 NME/NM23 family member 5 gene DOID:9005202 Primary Ciliary Dyskinesia 48 ISO RGD:1343010 D RGD:7240710 20220921 OMIM 11870922 NME5 NME/NM23 family member 5 gene DOID:9005202 Primary Ciliary Dyskinesia 48 ISO RGD:1343010 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 48, without situs inversus PMID:25741868|PMID:32185794|PMID:32950024 11870922 NME5 NME/NM23 family member 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 11870922 NME5 NME/NM23 family member 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343010 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11870943 GNMT glycine N-methyltransferase gene DOID:0050444 infantile Refsum disease ISO RGD:732912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:26669662|PMID:27779215|PMID:28492532|PMID:8670792 11870943 GNMT glycine N-methyltransferase gene DOID:0050544 hypermethioninemia ISO RGD:732912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11596649|PMID:11810299 11870943 GNMT glycine N-methyltransferase gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:732912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31086990 11870943 GNMT glycine N-methyltransferase gene DOID:0111037 glycine N-methyltransferase deficiency ISO RGD:732912 D RGD:7240710 20180214 OMIM 11870943 GNMT glycine N-methyltransferase gene DOID:0111037 glycine N-methyltransferase deficiency ISO RGD:732912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycine N-methyltransferase deficiency PMID:11596649|PMID:11810299|PMID:14739680|PMID:28492532 11870943 GNMT glycine N-methyltransferase gene DOID:2237 hepatitis ISO RGD:732912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21137059 11870943 GNMT glycine N-methyltransferase gene DOID:630 genetic disease ISO RGD:732912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11870943 GNMT glycine N-methyltransferase gene DOID:684 hepatocellular carcinoma ISO RGD:10671 D RGD:9068941 20220825 MouseDO OMIM:114550 11870943 GNMT glycine N-methyltransferase gene DOID:684 hepatocellular carcinoma ISO RGD:732912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19146867|PMID:31086990 11870943 GNMT glycine N-methyltransferase gene DOID:9002304 Prostatic Neoplasms ISO RGD:732912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17332283 11870943 GNMT glycine N-methyltransferase gene DOID:9007188 Liver Neoplasms ISO RGD:732912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21137059 11870943 GNMT glycine N-methyltransferase gene DOID:9008510 Chronic Hepatitis ISO RGD:732912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19146867 11870943 GNMT glycine N-methyltransferase gene DOID:905 Zellweger syndrome ISO RGD:732912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:26669662|PMID:27779215|PMID:28492532|PMID:8670792 11870943 GNMT glycine N-methyltransferase gene DOID:9279 hyperhomocysteinemia ISO RGD:732912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16317120 11870953 ZHX3 zinc fingers and homeoboxes 3 gene DOID:2234 focal epilepsy ISO RGD:1342474 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11870953 ZHX3 zinc fingers and homeoboxes 3 gene DOID:630 genetic disease ISO RGD:1342474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11870972 FAM180B family with sequence similarity 180 member B gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:2298817 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11870972 FAM180B family with sequence similarity 180 member B gene DOID:1059 intellectual disability ISO RGD:2298817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11870972 FAM180B family with sequence similarity 180 member B gene DOID:630 genetic disease ISO RGD:2298817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11870998 TBC1D26 TBC1 domain family member 26 gene DOID:630 genetic disease ISO RGD:1604696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11871051 LOC100971436 alcohol dehydrogenase 1A gene DOID:0060041 autism spectrum disorder ISO RGD:1349763 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11871051 LOC100971436 alcohol dehydrogenase 1A gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1349763 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29718361 11871051 LOC100971436 alcohol dehydrogenase 1A gene DOID:630 genetic disease ISO RGD:1349763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11871051 LOC100971436 alcohol dehydrogenase 1A gene DOID:9004590 Acute Liver Failure ISO RGD:1349763 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 11871065 LOC100974684 olfactory receptor 5K1 gene DOID:630 genetic disease ISO RGD:1347070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11871070 CASS4 Cas scaffold protein family member 4 gene DOID:10652 Alzheimer's disease ISO RGD:1321668 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:30320580|PMID:33589840 11871070 CASS4 Cas scaffold protein family member 4 gene DOID:630 genetic disease ISO RGD:1321668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11871101 LOC100988271 uncharacterized LOC100988271 gene DOID:0110215 Leber congenital amaurosis 5 ISO RGD:1314135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 5 PMID:10631161|PMID:16123401|PMID:17546029 11871101 LOC100988271 uncharacterized LOC100988271 gene DOID:630 genetic disease ISO RGD:1314135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11871101 LOC100988271 uncharacterized LOC100988271 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1314135 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11871101 LOC100988271 uncharacterized LOC100988271 gene DOID:9269 maple syrup urine disease ISO RGD:1314135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:16786533|PMID:22593002|PMID:24571530|PMID:28492532 11871108 USP29 ubiquitin specific peptidase 29 gene DOID:630 genetic disease ISO RGD:1315382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11871116 CCDC154 coiled-coil domain containing 154 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:2299193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 11871116 CCDC154 coiled-coil domain containing 154 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:2299193 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11871116 CCDC154 coiled-coil domain containing 154 gene DOID:0110942 autosomal recessive osteopetrosis 1 ISO RGD:1619887 D RGD:9068941 20220825 MouseDO OMIM:259700 11871116 CCDC154 coiled-coil domain containing 154 gene DOID:1826 epilepsy ISO RGD:2299193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11871116 CCDC154 coiled-coil domain containing 154 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:2299193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11871116 CCDC154 coiled-coil domain containing 154 gene DOID:630 genetic disease ISO RGD:2299193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11871136 PAIP1 poly(A) binding protein interacting protein 1 gene DOID:630 genetic disease ISO RGD:1313834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11871136 PAIP1 poly(A) binding protein interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11871162 CFP complement factor properdin gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1351689 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 11871162 CFP complement factor properdin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11871162 CFP complement factor properdin gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1351689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 11871162 CFP complement factor properdin gene DOID:0080176 meningococcal meningitis ISO RGD:1351689 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10909851|PMID:8530058 11871162 CFP complement factor properdin gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1351689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11871162 CFP complement factor properdin gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1351689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11871162 CFP complement factor properdin gene DOID:0111768 X-linked properdin deficiency ISO RGD:1351689 D RGD:7240710 20190315 OMIM 11871162 CFP complement factor properdin gene DOID:0111768 X-linked properdin deficiency ISO RGD:1351689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Properdin deficiency, X-linked | ClinVar Annotator: match by term: Properdin deficiency, type II | ClinVar Annotator: match by term: Properdin deficiency, type III PMID:10909851|PMID:25741868|PMID:28492532|PMID:3380115|PMID:7151327|PMID:8530058|PMID:8871668 11871162 CFP complement factor properdin gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1351689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 11871162 CFP complement factor properdin gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1351689 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 11871162 CFP complement factor properdin gene DOID:12134 factor VIII deficiency ISO RGD:1351689 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:6912882|REF_RGD_ID:11041156 11871162 CFP complement factor properdin gene DOID:12849 autistic disorder ISO RGD:1351689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11871162 CFP complement factor properdin gene DOID:630 genetic disease ISO RGD:1351689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11871162 CFP complement factor properdin gene DOID:684 hepatocellular carcinoma ISO RGD:1351689 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11871162 CFP complement factor properdin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351689 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11871200 MEX3A mex-3 RNA binding family member A gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1625811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11871200 MEX3A mex-3 RNA binding family member A gene DOID:0060586 Noonan syndrome 8 ISO RGD:1625811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 11871200 MEX3A mex-3 RNA binding family member A gene DOID:0111940 immunodeficiency 42 ISO RGD:1625811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11871200 MEX3A mex-3 RNA binding family member A gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1625811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11871200 MEX3A mex-3 RNA binding family member A gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1625811 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11871200 MEX3A mex-3 RNA binding family member A gene DOID:1540 parathyroid carcinoma ISO RGD:1625811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11871200 MEX3A mex-3 RNA binding family member A gene DOID:5812 MHC class II deficiency ISO RGD:1625811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11871200 MEX3A mex-3 RNA binding family member A gene DOID:630 genetic disease ISO RGD:1625811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11871200 MEX3A mex-3 RNA binding family member A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1625811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11871206 LOC100968859 cancer/testis antigen family 47 member B1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:2306151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11871206 LOC100968859 cancer/testis antigen family 47 member B1 gene DOID:12849 autistic disorder ISO RGD:2306151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11871206 LOC100968859 cancer/testis antigen family 47 member B1 gene DOID:630 genetic disease ISO RGD:2306151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11871218 ARL6IP5 ADP ribosylation factor like GTPase 6 interacting protein 5 gene DOID:0060001 withdrawal disorder ISO RGD:1344465 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21600884 11871218 ARL6IP5 ADP ribosylation factor like GTPase 6 interacting protein 5 gene DOID:630 genetic disease ISO RGD:1344465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11871218 ARL6IP5 ADP ribosylation factor like GTPase 6 interacting protein 5 gene DOID:9000217 Stomach Neoplasms ISO RGD:1344465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22452940 11871218 ARL6IP5 ADP ribosylation factor like GTPase 6 interacting protein 5 gene DOID:9002170 Experimental Neoplasms ISO RGD:1344465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29545876 11871218 ARL6IP5 ADP ribosylation factor like GTPase 6 interacting protein 5 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1344465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29545876 11871251 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:0060041 autism spectrum disorder ISO RGD:736139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 11871251 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:736139 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 11871251 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:0080447 developmental and epileptic encephalopathy 43 ISO RGD:736139 D RGD:7240710 20230517 OMIM 11871251 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:0080447 developmental and epileptic encephalopathy 43 ISO RGD:736139 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 43 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 43 PMID:11742254|PMID:12189488|PMID:23934111|PMID:25741868|PMID:26467025|PMID:26645412|PMID:26950270|PMID:26993267|PMID:27476654|PMID:28053010|PMID:28492532|PMID:33287870|PMID:33585817|PMID:34782754 11871251 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:736139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 11871251 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:1059 intellectual disability ISO RGD:736139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28053010|PMID:28492532|PMID:28544625 11871251 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:11832 visual epilepsy ISO RGD:736139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure PMID:18514161|PMID:19935738|PMID:20550555|PMID:25726841|PMID:25741868|PMID:26467025|PMID:26845707|PMID:26950270|PMID:28492532 11871251 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:11983 Prader-Willi syndrome ISO RGD:736139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 11871251 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:12849 autistic disorder ISO RGD:736139 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 11871251 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:1825 childhood absence epilepsy ISO RGD:736139 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:18514161 11871251 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:1825 childhood absence epilepsy ISO RGD:736139 D RGD:9068941 20221103 RGD DNA:SNPs PMID:16835263|REF_RGD_ID:1601269 11871251 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:1826 epilepsy ISO RGD:736139 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:20550555|PMID:25741868|PMID:26467025|PMID:28492532 11871251 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:1932 Angelman syndrome ISO RGD:736139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:24088041|PMID:26633545 11871251 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:2661 myoepithelioma ISO RGD:736139 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11871251 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:5419 schizophrenia ISO RGD:736139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11871251 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:630 genetic disease ISO RGD:736139 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18514161|PMID:19935738|PMID:20550555|PMID:23934111|PMID:24909990|PMID:24999380|PMID:25726841|PMID:25741868|PMID:25849321|PMID:26467025|PMID:26645412|PMID:26845707|PMID:26950270|PMID:26993267|PMID:28492532|PMID:28607477|PMID:8382702|PMID:9536098 11871251 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:9000998 Brain Injuries ISO RGD:736139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 11871251 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:9001793 Generalized Epilepsy ISO RGD:736139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:27864847|PMID:28492532|PMID:30185235|PMID:32581362 11871251 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11871251 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:9004576 Sleep Initiation and Maintenance Disorders ISO RGD:736139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Insomnia PMID:11742254|PMID:12189488|PMID:25741868|PMID:28492532 11871251 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:9004864 Isodicentric Chromosome 15 Syndrome ISO RGD:736139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23663378 11871251 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:9006141 Childhood Absence Epilepsy 5 ISO RGD:736139 D RGD:7240710 20230517 OMIM 11871251 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:9006141 Childhood Absence Epilepsy 5 ISO RGD:736139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence 5 | ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 5 PMID:18514161|PMID:19935738|PMID:20550555|PMID:22303015|PMID:23934111|PMID:24088041|PMID:25726841|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26845707|PMID:26950270|PMID:27476654|PMID:28492532 11871251 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:9007 sudden infant death syndrome ISO RGD:736139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:11742254|PMID:12189488|PMID:25741868|PMID:28492532 11871251 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:9008086 Developmental Disabilities ISO RGD:736139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:18514161|PMID:22303015|PMID:25741868|PMID:28492532 11871251 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:736139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15878204 11871251 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:9009060 Childhood Absence Epilepsy 1 ISO RGD:736139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence 1 | ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 PMID:11198279|PMID:11742254|PMID:12189488|PMID:16199547|PMID:17576681|PMID:18514161|PMID:19935738|PMID:20550555|PMID:22303015|PMID:23495136|PMID:23934111|PMID:24909990|PMID:24999380|PMID:25533962|PMID:25726841|PMID:25741868|PMID:25849321|PMID:26068938|PMID:26467025|PMID:26645412|PMID:26704558|PMID:26845707|PMID:26950270|PMID:26993267|PMID:27476654|PMID:27622563|PMID:27864847|PMID:28053010|PMID:2828157|PMID:28281572|PMID:28492532|PMID:28544625|PMID:28607477|PMID:29162865|PMID:29961870|PMID:30185235|PMID:30728247|PMID:31164858|PMID:31435640|PMID:33287870|PMID:33585817|PMID:34782754|PMID:8382702|PMID:9536098 11871271 PWWP3A PWWP domain containing 3A, DNA repair factor gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1318053 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 11871271 PWWP3A PWWP domain containing 3A, DNA repair factor gene DOID:5339 cyclic hematopoiesis ISO RGD:1318053 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11871271 PWWP3A PWWP domain containing 3A, DNA repair factor gene DOID:630 genetic disease ISO RGD:1318053 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11871306 FANCI FA complementation group I gene DOID:0050671 female breast cancer susceptibility ISO RGD:1605380 D RGD:9068941 20220609 RGD DNA:missense mutation:cds: (human) PMID:30303537|REF_RGD_ID:152995259 11871306 FANCI FA complementation group I gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1605380 D RGD:9068941 20200609 RGD PMID:17409780|REF_RGD_ID:11049143 11871306 FANCI FA complementation group I gene DOID:0080119 mitochondrial DNA depletion syndrome 1 ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type) PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 11871306 FANCI FA complementation group I gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:1605380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:21880868|PMID:22189570|PMID:23524600|PMID:23783014|PMID:24033266|PMID:24086434|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532|PMID:30634555 11871306 FANCI FA complementation group I gene DOID:0080123 mitochondrial DNA depletion syndrome 4B ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4B, MNGIE type | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4b PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 11871306 FANCI FA complementation group I gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 11871306 FANCI FA complementation group I gene DOID:0111091 Fanconi anemia complementation group I ISO RGD:1605380 D RGD:7240710 20180130 OMIM 11871306 FANCI FA complementation group I gene DOID:0111091 Fanconi anemia complementation group I ISO RGD:1605380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group I PMID:16199547|PMID:17412408|PMID:17452773|PMID:17460694|PMID:17576681|PMID:17924555|PMID:18414213|PMID:18931676|PMID:20971953|PMID:21324748|PMID:22720145|PMID:22778927|PMID:23093618|PMID:23524600|PMID:23613520|PMID:24989076|PMID:25741868|PMID:26296701|PMID:26467025|PMID:26590883|PMID:27987238|PMID:28492532|PMID:28678401|PMID:28875981|PMID:28878254|PMID:29439820|PMID:30076350|PMID:30303537|PMID:30773290|PMID:32546565|PMID:33558524|PMID:34861889|PMID:9536098 11871306 FANCI FA complementation group I gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1605380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:25741868|PMID:28492532 11871306 FANCI FA complementation group I gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 11871306 FANCI FA complementation group I gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1605380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 11871306 FANCI FA complementation group I gene DOID:0111521 autosomal dominant progressive external ophthalmoplegia 1 ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 11871306 FANCI FA complementation group I gene DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 11871306 FANCI FA complementation group I gene DOID:10534 stomach cancer ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:25741868|PMID:28875981 11871306 FANCI FA complementation group I gene DOID:10907 microcephaly ISO RGD:1605380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11871306 FANCI FA complementation group I gene DOID:13636 Fanconi anemia ISO RGD:1605380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:15477547|PMID:15689359|PMID:16177225|PMID:16199547|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452773|PMID:17460694|PMID:17576681|PMID:17924555|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:19737859|PMID:19763152|PMID:20307669|PMID:20691285|PMID:20971953|PMID:21038416|PMID:21228398|PMID:21324748|PMID:22406018|PMID:22720145|PMID:23093618|PMID:23613520|PMID:23783014|PMID:24033266|PMID:24989076|PMID:25462018|PMID:25741868|PMID:25877891|PMID:25927356|PMID:26104464|PMID:26296701|PMID:26467025|PMID:26590883|PMID:28492532|PMID:28678401|PMID:28878254|PMID:29439820|PMID:29891941|PMID:30076350|PMID:30303537|PMID:30333958|PMID:30773290|PMID:31470354|PMID:32054657|PMID:32235514|PMID:32546565|PMID:33558524|PMID:34585473|PMID:34861889|PMID:9536098 11871306 FANCI FA complementation group I gene DOID:1612 breast cancer ISO RGD:1605380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532|PMID:33558524 11871306 FANCI FA complementation group I gene DOID:1826 epilepsy ISO RGD:1605380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizures PMID:15477547|PMID:16177225|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:28492532 11871306 FANCI FA complementation group I gene DOID:2476 hereditary spastic paraplegia ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:21880868|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:28492532 11871306 FANCI FA complementation group I gene DOID:2717 Bloom syndrome ISO RGD:1605380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11871306 FANCI FA complementation group I gene DOID:630 genetic disease ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:28492532 11871306 FANCI FA complementation group I gene DOID:684 hepatocellular carcinoma ISO RGD:1605380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11871306 FANCI FA complementation group I gene DOID:700 mitochondrial metabolism disease ISO RGD:1605380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: mitochondrial disorder PMID:15477547|PMID:16177225|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:28492532 11871306 FANCI FA complementation group I gene DOID:700 mitochondrial metabolism disease ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: mitochondrial disorder PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:28492532 11871306 FANCI FA complementation group I gene DOID:9001263 Mitochondrial DNA Depletion Syndrome, MNGIE Type ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 11871306 FANCI FA complementation group I gene DOID:9003108 CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 11871306 FANCI FA complementation group I gene DOID:9008631 progressive myoclonus epilepsy 5 ISO RGD:1605380 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 11871306 FANCI FA complementation group I gene DOID:9256 colorectal cancer ISO RGD:1605380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer PMID:25741868|PMID:28492532 11871366 SMG5 SMG5 nonsense mediated mRNA decay factor gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1603683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11871366 SMG5 SMG5 nonsense mediated mRNA decay factor gene DOID:0111940 immunodeficiency 42 ISO RGD:1603683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11871366 SMG5 SMG5 nonsense mediated mRNA decay factor gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11871366 SMG5 SMG5 nonsense mediated mRNA decay factor gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11871366 SMG5 SMG5 nonsense mediated mRNA decay factor gene DOID:1540 parathyroid carcinoma ISO RGD:1603683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11871366 SMG5 SMG5 nonsense mediated mRNA decay factor gene DOID:5812 MHC class II deficiency ISO RGD:1603683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11871366 SMG5 SMG5 nonsense mediated mRNA decay factor gene DOID:630 genetic disease ISO RGD:1603683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11871366 SMG5 SMG5 nonsense mediated mRNA decay factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11871395 SEC14L4 SEC14 like lipid binding 4 gene DOID:630 genetic disease ISO RGD:1343842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:735711 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:0080074 neural tube defect ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20641098 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27565560 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:10783 methemoglobinemia ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12030840 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:13580 cholestasis ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27565560 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:1380 endometrial cancer ISO RGD:735711 D RGD:9068941 20200609 RGD DNA:SNP::differences in allele and genotype distribution for CYP1A2*1F polymorphism (p=0.00000002) PMID:18497059|REF_RGD_ID:2301045 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:1596 depressive disorder ISO RGD:2459 D RGD:9068941 20200609 RGD PMID:20595028|REF_RGD_ID:4892242 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:1612 breast cancer ISO RGD:735711 D RGD:9068941 20200609 RGD DNA:SNP::differences in allele and genotype distribution for CYP1A2*1F polymorphism (p=0.0000005) PMID:18497059|REF_RGD_ID:2301045 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:1749 squamous cell carcinoma ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22072123 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:735711 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:2529 splenic disease ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20961953 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:2717 Bloom syndrome ISO RGD:735711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:3021 acute kidney failure treatment ISO RGD:10438 D RGD:9068941 20200609 RGD PMID:18495746|PMID:23981375|REF_RGD_ID:7257727|REF_RGD_ID:7257735 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20797314 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:735711 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-3860G>A (human) PMID:20080081|REF_RGD_ID:4293707 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:3132 porphyria cutanea tarda ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11153915 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:3132 porphyria cutanea tarda ISO RGD:735711 D RGD:9068941 20200609 RGD PMID:20957336|REF_RGD_ID:11576316 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:409 liver disease ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12969438 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:5082 liver cirrhosis ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27565560 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:5419 schizophrenia ISO RGD:735711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:630 genetic disease ISO RGD:735711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:684 hepatocellular carcinoma ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9000310 Lung Injury ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25703676 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9001312 Tardive Dyskinesia treatment ISO RGD:735711 D RGD:9068941 20200609 RGD associated with schizophrenia PMID:10889552|REF_RGD_ID:1358545 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11376689|PMID:21147764 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9002720 Splenomegaly ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10445756 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9004462 Atrophy ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20961953 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9004484 Sepsis ISO RGD:2459 D RGD:9068941 20200609 RGD PMID:15665729|PMID:18360687|REF_RGD_ID:2303376|REF_RGD_ID:5147745 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9004898 Jaundice ISO RGD:2459 D RGD:9068941 20200609 RGD PMID:8502229|REF_RGD_ID:11576308 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9004898 Jaundice ISO RGD:2459 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:18442205|REF_RGD_ID:2303375 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9005172 Lung Neoplasms ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22072123 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9005369 Hepatomegaly ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10445756 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9006257 Growth Disorders ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20961953 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10445756 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28762043 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9007703 Phenacetin O-Deethylase, Deficiency of ISO RGD:12053109 D RGD:9068941 20230511 OMIA Metabolizer of a cognitive enhancer PMID:14744947|PMID:15564884|PMID:15742977|PMID:16473917|PMID:16882764|PMID:37144920 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21081473 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9008691 Liver Injury ISO RGD:2459 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:26590097|REF_RGD_ID:11576319 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9256 colorectal cancer ISO RGD:735711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22244987 11871427 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22674224 11871441 P2RX6 purinergic receptor P2X 6 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:736820 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 11871441 P2RX6 purinergic receptor P2X 6 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:736820 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 11871441 P2RX6 purinergic receptor P2X 6 gene DOID:1059 intellectual disability ISO RGD:736820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11871441 P2RX6 purinergic receptor P2X 6 gene DOID:11198 DiGeorge syndrome ISO RGD:736820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:31690835|PMID:32581362 11871441 P2RX6 purinergic receptor P2X 6 gene DOID:11372 megacolon ISO RGD:736820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11871441 P2RX6 purinergic receptor P2X 6 gene DOID:12583 velocardiofacial syndrome ISO RGD:736820 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 11871441 P2RX6 purinergic receptor P2X 6 gene DOID:12849 autistic disorder ISO RGD:736820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11871441 P2RX6 purinergic receptor P2X 6 gene DOID:1826 epilepsy ISO RGD:736820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11871441 P2RX6 purinergic receptor P2X 6 gene DOID:5419 schizophrenia ISO RGD:736820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11871441 P2RX6 purinergic receptor P2X 6 gene DOID:612 primary immunodeficiency disease ISO RGD:736820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11871441 P2RX6 purinergic receptor P2X 6 gene DOID:630 genetic disease ISO RGD:736820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11871441 P2RX6 purinergic receptor P2X 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11871441 P2RX6 purinergic receptor P2X 6 gene DOID:9007661 Dwarfism ISO RGD:736820 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11871456 TGDS TDP-glucose 4,6-dehydratase gene DOID:0081122 Catel Manzke syndrome ISO RGD:1315219 D RGD:7240710 20180130 OMIM 11871456 TGDS TDP-glucose 4,6-dehydratase gene DOID:0081122 Catel Manzke syndrome ISO RGD:1315219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catel-Manzke syndrome PMID:18501694|PMID:22887726|PMID:25480037|PMID:25741868|PMID:26366375|PMID:28422407|PMID:28492532|PMID:31769200|PMID:31833187|PMID:9777339 11871456 TGDS TDP-glucose 4,6-dehydratase gene DOID:0110878 holoprosencephaly 5 ISO RGD:1315219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 11871456 TGDS TDP-glucose 4,6-dehydratase gene DOID:630 genetic disease ISO RGD:1315219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18501694|PMID:25480037|PMID:25741868|PMID:26366375|PMID:28422407|PMID:28492532|PMID:31769200|PMID:31833187 11871456 TGDS TDP-glucose 4,6-dehydratase gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1315219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11871456 TGDS TDP-glucose 4,6-dehydratase gene DOID:9006419 Congenital Microcoria ISO RGD:1315219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital miosis PMID:32672565 11871483 HTATSF1 HIV-1 Tat specific factor 1 gene DOID:0060022 CD40 ligand deficiency ISO RGD:1344524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11871483 HTATSF1 HIV-1 Tat specific factor 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11871483 HTATSF1 HIV-1 Tat specific factor 1 gene DOID:0060825 Christianson syndrome ISO RGD:1344524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11871483 HTATSF1 HIV-1 Tat specific factor 1 gene DOID:12849 autistic disorder ISO RGD:1344524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11871483 HTATSF1 HIV-1 Tat specific factor 1 gene DOID:630 genetic disease ISO RGD:1344524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11871483 HTATSF1 HIV-1 Tat specific factor 1 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1344524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11871483 HTATSF1 HIV-1 Tat specific factor 1 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1344524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Visceral heterotaxia PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11871483 HTATSF1 HIV-1 Tat specific factor 1 gene DOID:9007823 Chromosome Xq26.3 Duplication Syndrome ISO RGD:1344524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome PMID:26935837 11871505 GDAP2 ganglioside induced differentiation associated protein 2 gene DOID:0111616 autosomal recessive spinocerebellar ataxia 27 ISO RGD:1314445 D RGD:7240710 20190424 OMIM 11871505 GDAP2 ganglioside induced differentiation associated protein 2 gene DOID:0111616 autosomal recessive spinocerebellar ataxia 27 ISO RGD:1314445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 27 PMID:25741868|PMID:30084953 11871505 GDAP2 ganglioside induced differentiation associated protein 2 gene DOID:630 genetic disease ISO RGD:1314445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11871529 ABHD16B abhydrolase domain containing 16B gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1320221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 11871529 ABHD16B abhydrolase domain containing 16B gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1320221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 11871529 ABHD16B abhydrolase domain containing 16B gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1320221 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11871529 ABHD16B abhydrolase domain containing 16B gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1320221 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 11871529 ABHD16B abhydrolase domain containing 16B gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1320221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 11871529 ABHD16B abhydrolase domain containing 16B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1320221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 11871529 ABHD16B abhydrolase domain containing 16B gene DOID:630 genetic disease ISO RGD:1320221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11871534 HSD11B1L hydroxysteroid 11-beta dehydrogenase 1 like gene DOID:630 genetic disease ISO RGD:1605800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11871555 PPP1R1A protein phosphatase 1 regulatory inhibitor subunit 1A gene DOID:0050700 cardiomyopathy ISO RGD:737038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20071777 11871555 PPP1R1A protein phosphatase 1 regulatory inhibitor subunit 1A gene DOID:6000 congestive heart failure ISO RGD:737038 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20071777 11871555 PPP1R1A protein phosphatase 1 regulatory inhibitor subunit 1A gene DOID:630 genetic disease ISO RGD:737038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11871555 PPP1R1A protein phosphatase 1 regulatory inhibitor subunit 1A gene DOID:684 hepatocellular carcinoma ISO RGD:737038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15010824 11871555 PPP1R1A protein phosphatase 1 regulatory inhibitor subunit 1A gene DOID:9000064 Cardiac Arrhythmias ISO RGD:737038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20071777 11871566 GALNT15 polypeptide N-acetylgalactosaminyltransferase 15 gene DOID:0060417 3p deletion syndrome ISO RGD:1312992 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 11871566 GALNT15 polypeptide N-acetylgalactosaminyltransferase 15 gene DOID:630 genetic disease ISO RGD:1312992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11871580 LOC100982199 cytochrome c oxidase subunit 7B2, mitochondrial gene DOID:630 genetic disease ISO RGD:1353874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11871580 LOC100982199 cytochrome c oxidase subunit 7B2, mitochondrial gene DOID:684 hepatocellular carcinoma ISO RGD:1353874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11871590 COL4A6 collagen type IV alpha 6 chain gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1343037 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 11871590 COL4A6 collagen type IV alpha 6 chain gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11871590 COL4A6 collagen type IV alpha 6 chain gene DOID:0110034 X-linked Alport syndrome ISO RGD:1343037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked Alport syndrome 11871590 COL4A6 collagen type IV alpha 6 chain gene DOID:0111740 X-linked deafness 6 ISO RGD:1343037 D RGD:7240710 20180130 OMIM 11871590 COL4A6 collagen type IV alpha 6 chain gene DOID:0111740 X-linked deafness 6 ISO RGD:1343037 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Deafness, X-linked 6 PMID:23714752|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33840813 11871590 COL4A6 collagen type IV alpha 6 chain gene DOID:12849 autistic disorder ISO RGD:1343037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11871590 COL4A6 collagen type IV alpha 6 chain gene DOID:630 genetic disease ISO RGD:1343037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11871590 COL4A6 collagen type IV alpha 6 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:1343037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11871590 COL4A6 collagen type IV alpha 6 chain gene DOID:9005549 Epithelioid Leiomyoma ISO RGD:1343037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17069596 11871652 PAPPA2 pappalysin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1312133 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11871652 PAPPA2 pappalysin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1312133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11871652 PAPPA2 pappalysin 2 gene DOID:630 genetic disease ISO RGD:1312133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11871652 PAPPA2 pappalysin 2 gene DOID:9005722 SHORT STATURE, DAUBER-ARGENTE TYPE ISO RGD:1312133 D RGD:7240710 20211103 OMIM 11871652 PAPPA2 pappalysin 2 gene DOID:9005722 SHORT STATURE, DAUBER-ARGENTE TYPE ISO RGD:1312133 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Short stature, Dauber-Argente type PMID:25741868|PMID:26902202|PMID:34272725 11871652 PAPPA2 pappalysin 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1312133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11871652 PAPPA2 pappalysin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11871683 AP4E1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1343936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:23472171|PMID:25741868|PMID:32979048 11871683 AP4E1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:0110803 hereditary spastic paraplegia 51 ISO RGD:1343936 D RGD:7240710 20180130 OMIM 11871683 AP4E1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:0110803 hereditary spastic paraplegia 51 ISO RGD:1343936 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 PMID:18414213|PMID:20972249|PMID:21937992|PMID:23472171|PMID:25741868|PMID:28492532|PMID:32979048 11871683 AP4E1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:1059 intellectual disability ISO RGD:1343936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11871683 AP4E1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1343936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18414213|PMID:25741868|PMID:26544806|PMID:28492532 11871683 AP4E1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1343936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18414213|PMID:25741868|PMID:26350204|PMID:26544806|PMID:28492532 11871683 AP4E1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:2717 Bloom syndrome ISO RGD:1343936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11871683 AP4E1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:574 peripheral nervous system disease ISO RGD:1343936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 11871683 AP4E1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:607 paraplegia ISO RGD:1343936 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:17576681|PMID:18414213|PMID:21620353|PMID:21937992|PMID:23472171|PMID:25167861|PMID:25741868|PMID:26350204|PMID:26544806|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942|PMID:32979048|PMID:9536098 11871683 AP4E1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:630 genetic disease ISO RGD:1343936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:26350204|PMID:26544806|PMID:28492532 11871683 AP4E1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:870 neuropathy ISO RGD:1343936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 11871683 AP4E1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:9005717 Familial Persistent Stuttering 1 ISO RGD:1343936 D RGD:7240710 20190315 OMIM 11871683 AP4E1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:9005717 Familial Persistent Stuttering 1 ISO RGD:1343936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stuttering, familial persistent, 1 PMID:18414213|PMID:25741868|PMID:26350204|PMID:26544806|PMID:28492532 11871683 AP4E1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1343936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11871683 AP4E1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:9256 colorectal cancer ISO RGD:1343936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11871713 BOD1 biorientation of chromosomes in cell division 1 gene DOID:1059 intellectual disability ISO RGD:1348370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11871713 BOD1 biorientation of chromosomes in cell division 1 gene DOID:630 genetic disease ISO RGD:1348370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11871721 LOC100984122 protein FAM156A/FAM156B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1626581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11871721 LOC100984122 protein FAM156A/FAM156B gene DOID:12849 autistic disorder ISO RGD:1626581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11871728 VAPB VAMP associated protein B and C gene DOID:0050752 amyotrophic lateral sclerosis type 8 ISO RGD:68452 D RGD:7240710 20180130 OMIM 11871728 VAPB VAMP associated protein B and C gene DOID:0050752 amyotrophic lateral sclerosis type 8 ISO RGD:68452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 PMID:15372378|PMID:16187141|PMID:16967488|PMID:17576681|PMID:17804640|PMID:18322265|PMID:18677189|PMID:19183264|PMID:20008544|PMID:20377183|PMID:20447143|PMID:20577002|PMID:20940299|PMID:21275991|PMID:21685205|PMID:21933185|PMID:22131369|PMID:22258555|PMID:22454507|PMID:22878164|PMID:23333387|PMID:23446633|PMID:23771029|PMID:23971766|PMID:24212516|PMID:24326187|PMID:24681403|PMID:24792378|PMID:25741868|PMID:26362251|PMID:26467025|PMID:26566915|PMID:27978769|PMID:28492532|PMID:9536098 11871728 VAPB VAMP associated protein B and C gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:68452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant 11871728 VAPB VAMP associated protein B and C gene DOID:0111194 autosomal dominant adult-onset proximal spinal muscular atrophy ISO RGD:68452 D RGD:7240710 20180130 OMIM 11871728 VAPB VAMP associated protein B and C gene DOID:0111194 autosomal dominant adult-onset proximal spinal muscular atrophy ISO RGD:68452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adult-onset proximal spinal muscular atrophy, autosomal dominant PMID:15372378|PMID:16187141|PMID:16967488|PMID:17804640|PMID:18322265|PMID:18677189|PMID:19183264|PMID:20008544|PMID:20377183|PMID:20447143|PMID:20577002|PMID:21275991|PMID:21685205|PMID:21933185|PMID:22131369|PMID:22258555|PMID:22454507|PMID:22878164|PMID:23333387|PMID:23446633|PMID:23771029|PMID:23971766|PMID:24212516|PMID:24681403|PMID:25741868|PMID:26467025|PMID:26566915|PMID:27978769|PMID:28492532 11871728 VAPB VAMP associated protein B and C gene DOID:12377 spinal muscular atrophy ISO RGD:68452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal Muscular Atrophy, Dominant 11871728 VAPB VAMP associated protein B and C gene DOID:12377 spinal muscular atrophy onset ISO RGD:68452 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P56S (human) PMID:15372378|REF_RGD_ID:5688230 11871728 VAPB VAMP associated protein B and C gene DOID:332 amyotrophic lateral sclerosis ISO RGD:68452 D RGD:9068941 20220811 RGD DNA:missense mutation:cds:p.P56S (human) PMID:15372378|REF_RGD_ID:5688230 11871728 VAPB VAMP associated protein B and C gene DOID:630 genetic disease ISO RGD:68452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15372378|PMID:16187141|PMID:16967488|PMID:17576681|PMID:17804640|PMID:21275991|PMID:22878164|PMID:23771029|PMID:23971766|PMID:24326187|PMID:24681403|PMID:24792378|PMID:25741868|PMID:26362251|PMID:26467025|PMID:28492532|PMID:9536098 11871744 SLC24A3 solute carrier family 24 member 3 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:735914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11871744 SLC24A3 solute carrier family 24 member 3 gene DOID:630 genetic disease ISO RGD:735914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11871744 SLC24A3 solute carrier family 24 member 3 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:735914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11871765 LAPTM4B lysosomal protein transmembrane 4 beta gene DOID:630 genetic disease ISO RGD:1323527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11871776 JDP2 Jun dimerization protein 2 gene DOID:1059 intellectual disability ISO RGD:1602305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11871776 JDP2 Jun dimerization protein 2 gene DOID:630 genetic disease ISO RGD:1602305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11871776 JDP2 Jun dimerization protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1602305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20214788 11871776 JDP2 Jun dimerization protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11871787 IRF5 interferon regulatory factor 5 gene DOID:0050211 swine influenza disease_progression ISO RGD:1321355 D RGD:9068941 20210115 RGD PMID:29046356|REF_RGD_ID:40924628 11871787 IRF5 interferon regulatory factor 5 gene DOID:0050521 Oropouche fever ISO RGD:1321355 D RGD:9068941 20210115 RGD PMID:26468541|REF_RGD_ID:11075056 11871787 IRF5 interferon regulatory factor 5 gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1321354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 PMID:28492532 11871787 IRF5 interferon regulatory factor 5 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1321354 D RGD:9068941 20210115 RGD mRNA:increased expression:liver PMID:27942586|REF_RGD_ID:40924562 11871787 IRF5 interferon regulatory factor 5 gene DOID:0080600 COVID-19 ISO RGD:1321354 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11871787 IRF5 interferon regulatory factor 5 gene DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 ISO RGD:1321354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F PMID:28492532 11871787 IRF5 interferon regulatory factor 5 gene DOID:0110895 inflammatory bowel disease 14 ISO RGD:1321354 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 11871787 IRF5 interferon regulatory factor 5 gene DOID:0110895 inflammatory bowel disease 14 susceptibility ISO RGD:1321354 D RGD:7240710 20230505 OMIM 11871787 IRF5 interferon regulatory factor 5 gene DOID:13603 obstructive jaundice ISO RGD:1310447 D RGD:9068941 20210122 RGD mRNA,protein:increased expression:liver,nucleus: PMID:21737101|REF_RGD_ID:10402168 11871787 IRF5 interferon regulatory factor 5 gene DOID:1883 hepatitis C ISO RGD:1321354 D RGD:9068941 20210115 RGD mRNA:increased expression:liver PMID:27942586|REF_RGD_ID:40924562 11871787 IRF5 interferon regulatory factor 5 gene DOID:1883 hepatitis C treatment ISO RGD:1321354 D RGD:9068941 20210115 RGD PMID:28259968|REF_RGD_ID:40924642 11871787 IRF5 interferon regulatory factor 5 gene DOID:2366 West Nile fever disease_progression ISO RGD:1321355 D RGD:9068941 20210115 RGD PMID:25031348|REF_RGD_ID:40924561 11871787 IRF5 interferon regulatory factor 5 gene DOID:2377 multiple sclerosis ISO RGD:1321354 D RGD:9068941 20210115 RGD PMID:25392335|REF_RGD_ID:11055911 11871787 IRF5 interferon regulatory factor 5 gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1321354 D RGD:9068941 20210115 RGD DNA:SNPs: :rs3807306, rs4728142 (human) PMID:20861862|REF_RGD_ID:40924643 11871787 IRF5 interferon regulatory factor 5 gene DOID:418 systemic scleroderma ISO RGD:1321354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20383147 11871787 IRF5 interferon regulatory factor 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11871787 IRF5 interferon regulatory factor 5 gene DOID:5082 liver cirrhosis ISO RGD:1321355 D RGD:9068941 20210115 RGD PMID:27942586|REF_RGD_ID:40924562 11871787 IRF5 interferon regulatory factor 5 gene DOID:5082 liver cirrhosis severity ISO RGD:1321354 D RGD:9068941 20210115 RGD PMID:27942586|REF_RGD_ID:40924562 11871787 IRF5 interferon regulatory factor 5 gene DOID:5199 ureteral obstruction treatment ISO RGD:1310447 D RGD:9068941 20210122 RGD PMID:31177020|REF_RGD_ID:40924651 11871787 IRF5 interferon regulatory factor 5 gene DOID:552 pneumonia severity ISO RGD:1321354 D RGD:9068941 20210115 RGD PMID:29847542|REF_RGD_ID:40907064 11871787 IRF5 interferon regulatory factor 5 gene DOID:630 genetic disease ISO RGD:1321354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11871787 IRF5 interferon regulatory factor 5 gene DOID:7148 rheumatoid arthritis ISO RGD:1321354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis PMID:15657875|PMID:16642019|PMID:17599733|PMID:18063667 11871787 IRF5 interferon regulatory factor 5 gene DOID:820 myocarditis treatment ISO RGD:1321355 D RGD:9068941 20210115 RGD associated with Coxsackievirus Infections; PMID:31279856|REF_RGD_ID:40907063 11871787 IRF5 interferon regulatory factor 5 gene DOID:848 arthritis ISO RGD:1321355 D RGD:9068941 20210115 RGD PMID:32743529|REF_RGD_ID:40924631 11871787 IRF5 interferon regulatory factor 5 gene DOID:8566 herpes simplex susceptibility ISO RGD:1321354 D RGD:9068941 20210115 RGD associated with multiple sclerosis;DNA:SNP: :rs3807306 (human) PMID:20861862|REF_RGD_ID:40924643 11871787 IRF5 interferon regulatory factor 5 gene DOID:8577 ulcerative colitis ISO RGD:1321354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297633 11871787 IRF5 interferon regulatory factor 5 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1310447 D RGD:9068941 20210122 RGD PMID:24968269|REF_RGD_ID:40924652 11871787 IRF5 interferon regulatory factor 5 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:1310447 D RGD:9068941 20210122 RGD protein:increased expression:spinal dorsal horn PMID:29927790|REF_RGD_ID:40924654 11871787 IRF5 interferon regulatory factor 5 gene DOID:9006439 Electric Burns treatment ISO RGD:1321355 D RGD:9068941 20210115 RGD PMID:28620671|REF_RGD_ID:40907061 11871787 IRF5 interferon regulatory factor 5 gene DOID:9074 systemic lupus erythematosus ISO RGD:1321354 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus, association with susceptibility to, 10 | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 10 PMID:15657875|PMID:16642019|PMID:17189288|PMID:17393452|PMID:17476532|PMID:17599733|PMID:18063667|PMID:25741868 11871787 IRF5 interferon regulatory factor 5 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1321354 D RGD:7240710 20190502 OMIM 11871787 IRF5 interferon regulatory factor 5 gene DOID:9146 visceral leishmaniasis ISO RGD:1321355 D RGD:9068941 20210115 RGD PMID:32038622|REF_RGD_ID:40924560 11871787 IRF5 interferon regulatory factor 5 gene DOID:9146 visceral leishmaniasis ISO RGD:1321355 D RGD:9068941 20210115 RGD protein:increased expression:CD4 T cell, nucleus PMID:30067973|REF_RGD_ID:40924629 11871800 MS4A8 membrane spanning 4-domains A8 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1319151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11871800 MS4A8 membrane spanning 4-domains A8 gene DOID:1059 intellectual disability ISO RGD:1319151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11871800 MS4A8 membrane spanning 4-domains A8 gene DOID:630 genetic disease ISO RGD:1319151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11871811 NPR2 natriuretic peptide receptor 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:733765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11871811 NPR2 natriuretic peptide receptor 2 gene DOID:0070316 Miura type epiphyseal chondrodysplasia ISO RGD:733765 D RGD:7240710 20180130 OMIM 11871811 NPR2 natriuretic peptide receptor 2 gene DOID:0070316 Miura type epiphyseal chondrodysplasia ISO RGD:733765 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Tall stature-scoliosis-macrodactyly of the great toes syndrome PMID:22870295|PMID:23827346|PMID:24057292|PMID:24259409|PMID:25741868|PMID:30544148|PMID:32282051 11871811 NPR2 natriuretic peptide receptor 2 gene DOID:0080006 bone development disease ISO RGD:736630 D RGD:9068941 20220825 MouseDO 11871811 NPR2 natriuretic peptide receptor 2 gene DOID:0080049 acromesomelic dysplasia ISO RGD:733765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia PMID:28492532 11871811 NPR2 natriuretic peptide receptor 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:733765 D RGD:7240710 20180130 OMIM 11871811 NPR2 natriuretic peptide receptor 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:733765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:15146390|PMID:15572448|PMID:16199547|PMID:16384845|PMID:17576681|PMID:18945719|PMID:22691581|PMID:23065701|PMID:24001744|PMID:24471569|PMID:25703509|PMID:25741868|PMID:25959430|PMID:26075495|PMID:26284228|PMID:26567084|PMID:26980729|PMID:27994189|PMID:28492532|PMID:30359775|PMID:30408610|PMID:30602027|PMID:31960617|PMID:31990356|PMID:32506268|PMID:33288834|PMID:34008892|PMID:34217350|PMID:9536098 11871811 NPR2 natriuretic peptide receptor 2 gene DOID:0080942 anauxetic dysplasia ISO RGD:733765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11871811 NPR2 natriuretic peptide receptor 2 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:733765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11871811 NPR2 natriuretic peptide receptor 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:733765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11871811 NPR2 natriuretic peptide receptor 2 gene DOID:1059 intellectual disability ISO RGD:733765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11871811 NPR2 natriuretic peptide receptor 2 gene DOID:10825 essential hypertension ISO RGD:733765 D RGD:9068941 20200609 RGD DNA:repeat:intron:IVS2+150(GT)10-11 (human) PMID:10082481|REF_RGD_ID:1580772 11871811 NPR2 natriuretic peptide receptor 2 gene DOID:4480 achondroplasia ISO RGD:736630 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L885R (mouse) PMID:15722353|REF_RGD_ID:1580771 11871811 NPR2 natriuretic peptide receptor 2 gene DOID:4480 achondroplasia ISO RGD:736630 D RGD:9068941 20220825 MouseDO OMIM:100800 11871811 NPR2 natriuretic peptide receptor 2 gene DOID:630 genetic disease ISO RGD:733765 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11871811 NPR2 natriuretic peptide receptor 2 gene DOID:9000342 Familial Focal Epilepsy, with Variable Foci 2 ISO RGD:733765 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 2 PMID:25387261|PMID:25741868|PMID:26633542|PMID:30359775|PMID:30408610|PMID:32720985 11871811 NPR2 natriuretic peptide receptor 2 gene DOID:9001915 SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES ISO RGD:733765 D RGD:7240710 20180130 OMIM 11871811 NPR2 natriuretic peptide receptor 2 gene DOID:9001915 SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES ISO RGD:733765 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Short stature with nonspecific skeletal abnormalities PMID:15146390|PMID:15572448|PMID:16384845|PMID:22691581|PMID:24001744|PMID:24471569|PMID:25741868|PMID:26075495|PMID:27994189|PMID:28492532|PMID:30602027|PMID:31960617|PMID:31990356 11871811 NPR2 natriuretic peptide receptor 2 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:733765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11871811 NPR2 natriuretic peptide receptor 2 gene DOID:9007661 Dwarfism ISO RGD:733765 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Disproportionate short stature | ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:35741827 11871811 NPR2 natriuretic peptide receptor 2 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:733765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome 11871811 NPR2 natriuretic peptide receptor 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:733765 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 11871811 NPR2 natriuretic peptide receptor 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:733765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11871811 NPR2 natriuretic peptide receptor 2 gene DOID:9870 galactosemia ISO RGD:733765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11871842 RRM2 ribonucleotide reductase regulatory subunit M2 gene DOID:0080600 COVID-19 ISO RGD:736125 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11871842 RRM2 ribonucleotide reductase regulatory subunit M2 gene DOID:11054 urinary bladder cancer ISO RGD:11248 D RGD:9068941 20200609 RGD mRNA:increased expression:bladder (mouse) PMID:21139803|REF_RGD_ID:5133688 11871842 RRM2 ribonucleotide reductase regulatory subunit M2 gene DOID:11054 urinary bladder cancer ISO RGD:1598310 D RGD:9068941 20200609 RGD mRNA:increased expression:bladder (rat) PMID:21139803|REF_RGD_ID:5133688 11871842 RRM2 ribonucleotide reductase regulatory subunit M2 gene DOID:11054 urinary bladder cancer ISO RGD:736125 D RGD:9068941 20200609 RGD mRNA:increased expression:bladder (human) PMID:21139803|REF_RGD_ID:5133688 11871842 RRM2 ribonucleotide reductase regulatory subunit M2 gene DOID:11612 polycystic ovary syndrome ISO RGD:736125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11871842 RRM2 ribonucleotide reductase regulatory subunit M2 gene DOID:1793 pancreatic cancer ISO RGD:736125 D RGD:9068941 20200609 RGD PMID:19568409|REF_RGD_ID:2324950 11871842 RRM2 ribonucleotide reductase regulatory subunit M2 gene DOID:2870 endometrial adenocarcinoma ISO RGD:1598310 D RGD:9068941 20200609 RGD DNA:amplification (rat) PMID:15942940|REF_RGD_ID:2324953 11871842 RRM2 ribonucleotide reductase regulatory subunit M2 gene DOID:3459 breast carcinoma ISO RGD:736125 D RGD:9068941 20200609 RGD protein:increased expression:tumor (human) PMID:21556566|REF_RGD_ID:5133696 11871842 RRM2 ribonucleotide reductase regulatory subunit M2 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:736125 D RGD:9068941 20210604 RGD PMID:19002265|REF_RGD_ID:127229933 11871842 RRM2 ribonucleotide reductase regulatory subunit M2 gene DOID:3910 lung adenocarcinoma ISO RGD:736125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11871842 RRM2 ribonucleotide reductase regulatory subunit M2 gene DOID:630 genetic disease ISO RGD:736125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11871842 RRM2 ribonucleotide reductase regulatory subunit M2 gene DOID:684 hepatocellular carcinoma ISO RGD:736125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18230555|PMID:28284560 11871842 RRM2 ribonucleotide reductase regulatory subunit M2 gene DOID:9006205 Animal Disease Models ISO RGD:736125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11871842 RRM2 ribonucleotide reductase regulatory subunit M2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 11871856 DTHD1 death domain containing 1 gene DOID:630 genetic disease ISO RGD:3103432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11871856 DTHD1 death domain containing 1 gene DOID:8501 fundus dystrophy ISO RGD:3103432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 11871856 DTHD1 death domain containing 1 gene DOID:9884 muscular dystrophy ISO RGD:3103432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:23105016|PMID:28492532 11871873 LOC100992212 histone H4 gene DOID:1059 intellectual disability ISO RGD:1342856 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11871873 LOC100992212 histone H4 gene DOID:630 genetic disease ISO RGD:1342856 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11871878 RYR1 ryanodine receptor 1 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:18813041|PMID:20301325|PMID:21878807|PMID:21918424|PMID:22473935|PMID:23329375|PMID:23394784|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27058611|PMID:27147545|PMID:27153395|PMID:28492532 11871878 RYR1 ryanodine receptor 1 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1316413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:18813041|PMID:20301325|PMID:21878807|PMID:21918424|PMID:22473935|PMID:23329375|PMID:23394784|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27058611|PMID:27147545|PMID:27153395|PMID:28492532|PMID:30155738|PMID:30236257|PMID:30406384|PMID:30842289|PMID:33646171 11871878 RYR1 ryanodine receptor 1 gene DOID:0050558 Ullrich congenital muscular dystrophy ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 PMID:25741868|PMID:28492532 11871878 RYR1 ryanodine receptor 1 gene DOID:0050646 distal arthrogryposis ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis PMID:25741868 11871878 RYR1 ryanodine receptor 1 gene DOID:0050700 cardiomyopathy ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532 11871878 RYR1 ryanodine receptor 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SLEEP APNEA/HYPOPNEA SYNDROME PMID:25741868|PMID:28492532 11871878 RYR1 ryanodine receptor 1 gene DOID:0060249 scoliosis ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:17483490|PMID:18253926|PMID:19191329|PMID:19645060|PMID:21062345|PMID:22473935|PMID:23553787|PMID:23919265|PMID:24033266|PMID:24091937|PMID:25741868|PMID:28492532|PMID:32899693|PMID:34106991 11871878 RYR1 ryanodine receptor 1 gene DOID:0060260 ptosis ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ptosis PMID:10484775|PMID:11575529|PMID:12059893|PMID:12220451|PMID:12434264|PMID:16084090|PMID:16835904|PMID:16917943|PMID:18564|PMID:19648156|PMID:19919814|PMID:21118704|PMID:21514828|PMID:23558838|PMID:23919265|PMID:24033266|PMID:24433488|PMID:25558065|PMID:25741868|PMID:25960145|PMID:27586648|PMID:28492532|PMID:30236257|PMID:31206373|PMID:9497245 11871878 RYR1 ryanodine receptor 1 gene DOID:0060604 ankyloglossia ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tongue tie PMID:16835904|PMID:24033266|PMID:25741868 11871878 RYR1 ryanodine receptor 1 gene DOID:0080000 muscular disease ISO RGD:1316413 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:12467748|PMID:12565913|PMID:1256913|PMID:14670767|PMID:15731587|PMID:16199547|PMID:16917943|PMID:18414213|PMID:20583297|PMID:20839240|PMID:22473935|PMID:23183335|PMID:23553787|PMID:23558838|PMID:23919265|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25960145|PMID:28325813|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29576327|PMID:30155738 11871878 RYR1 ryanodine receptor 1 gene DOID:0080100 congenital myopathy ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myopathy PMID:17033962|PMID:18414213|PMID:20080402|PMID:20583297|PMID:20839240|PMID:21911697|PMID:22473935|PMID:23035052|PMID:23394784|PMID:23553787|PMID:23826317|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24195946|PMID:25428687|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:26019235|PMID:26332594|PMID:27382027|PMID:28492532|PMID:28818389|PMID:30122538|PMID:30325262|PMID:30652412|PMID:30724636|PMID:31407473|PMID:31680123|PMID:32054689|PMID:32236737|PMID:32978841|PMID:33458582|PMID:33767344|PMID:34463354 11871878 RYR1 ryanodine receptor 1 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:10097181|PMID:11274444|PMID:11575529|PMID:11709545|PMID:11741831|PMID:12123492|PMID:12642598|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15448513|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16380615|PMID:16621918|PMID:16732084|PMID:16917943|PMID:16940|PMID:16940308|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:18171678|PMID:18253|PMID:18253926|PMID:18414213|PMID:18564801|PMID:18765655|PMID:19191333|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19825159|PMID:20142353|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:21062345|PMID:21157159|PMID:21674524|PMID:21825032|PMID:21911697|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22992668|PMID:23329375|PMID:23394784|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24195946|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24950660|PMID:25084811|PMID:25214167|PMID:25256590|PMID:25326635|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26381711|PMID:26467025|PMID:26633545|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28818389|PMID:29172004|PMID:29293505|PMID:29382405|PMID:30155738|PMID:30236257|PMID:30611313|PMID:30652412|PMID:30788618|PMID:31055738|PMID:31407473|PMID:31559918|PMID:31680123|PMID:34008892|PMID:4149045|PMID:7299413|PMID:8661021|PMID:9199552 11871878 RYR1 ryanodine receptor 1 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1316413 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:10097181|PMID:11274444|PMID:11709545|PMID:11741831|PMID:12123492|PMID:12642598|PMID:15175001|PMID:15210166|PMID:15221887|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16380615|PMID:16621918|PMID:16732084|PMID:16917943|PMID:16940|PMID:16940308|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:18171678|PMID:18253|PMID:18253926|PMID:18414213|PMID:18564801|PMID:18765655|PMID:19191333|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19825159|PMID:20142353|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:21062345|PMID:21157159|PMID:21674524|PMID:21825032|PMID:21911697|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22992668|PMID:23329375|PMID:23394784|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24195946|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24950660|PMID:25084811|PMID:25214167|PMID:25256590|PMID:25326635|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28224104|PMID:28259615|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28818389|PMID:29172004|PMID:29298851|PMID:29382405|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30611313|PMID:30652412|PMID:30788618|PMID:31055738|PMID:31127727|PMID:31407473|PMID:31559918|PMID:31680123|PMID:31903994|PMID:32528171|PMID:32978841|PMID:33333461|PMID:34008892|PMID:34463354|PMID:35535697|PMID:4149045|PMID:7299413|PMID:8661021|PMID:9199552 11871878 RYR1 ryanodine receptor 1 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27854218|PMID:27918309|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31903994|PMID:31994743|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:35285867|PMID:35535697|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 11871878 RYR1 ryanodine receptor 1 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27854218|PMID:27918309|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31903994|PMID:31994743|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:35285867|PMID:35535697|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 11871878 RYR1 ryanodine receptor 1 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27854218|PMID:27918309|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31903994|PMID:31994743|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:35285867|PMID:35535697|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 11871878 RYR1 ryanodine receptor 1 gene DOID:0080700 caudal regression syndrome ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of sacrum PMID:10484775|PMID:11575529|PMID:12059893|PMID:12220451|PMID:12434264|PMID:16084090|PMID:16835904|PMID:16917943|PMID:18564|PMID:19648156|PMID:19919814|PMID:21118704|PMID:21514828|PMID:23558838|PMID:23919265|PMID:24033266|PMID:24433488|PMID:25558065|PMID:25741868|PMID:25960145|PMID:27586648|PMID:28492532|PMID:30236257|PMID:31206373|PMID:9497245 11871878 RYR1 ryanodine receptor 1 gene DOID:0080718 GNE myopathy ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing PMID:25741868|PMID:28492532 11871878 RYR1 ryanodine receptor 1 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita | ClinVar Annotator: match by term: Guérin-Stern syndrome | ClinVar Annotator: match by term: Muscular dystrophy and arthrogryposis PMID:20839240|PMID:21911697|PMID:22473935|PMID:22526018|PMID:23394784|PMID:23826317|PMID:24195946|PMID:25658027|PMID:25735680|PMID:25741868|PMID:28492532|PMID:28818389|PMID:30611313|PMID:30652412|PMID:31407473|PMID:31559918|PMID:31680123|PMID:32978841|PMID:34463354 11871878 RYR1 ryanodine receptor 1 gene DOID:0080990 King Denborough syndrome ISO RGD:1316413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: King Denborough syndrome | ClinVar Annotator: match by term: King syndrome PMID:10051009|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21157159|PMID:21455645|PMID:21514828|PMID:21795085|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22415532|PMID:22473935|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25086907|PMID:25214167|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25558065|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26578207|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28259615|PMID:28269792|PMID:28357410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30155738|PMID:30236257|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31994743|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:35285867|PMID:35535697|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 11871878 RYR1 ryanodine receptor 1 gene DOID:0080991 multiminicore disease ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 11871878 RYR1 ryanodine receptor 1 gene DOID:0080991 multiminicore disease ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:10888602|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12719381|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19807743|PMID:19825159|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25614869|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26467025|PMID:26565425|PMID:26633545|PMID:26841830|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27066551|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27353517|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27854218|PMID:28003660|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34463354|PMID:34528764|PMID:34535181|PMID:34809703|PMID:35285867|PMID:35535697|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8828983|PMID:9334205 11871878 RYR1 ryanodine receptor 1 gene DOID:0080991 multiminicore disease susceptibility ISO RGD:1316413 D RGD:7240710 20230505 OMIM 11871878 RYR1 ryanodine receptor 1 gene DOID:0110633 rigid spine muscular dystrophy 1 ISO RGD:1316413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Multi-minicore disease and atypical periodic paralysis | ClinVar Annotator: match by term: Multiminicore/minicore/multicore disease PMID:17033962|PMID:18414213|PMID:20080402|PMID:20583297|PMID:20839240|PMID:21674524|PMID:21911697|PMID:22473935|PMID:23553787|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24195946|PMID:24950660|PMID:24951453|PMID:25214167|PMID:25476234|PMID:25525159|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25958340|PMID:25960145|PMID:26332594|PMID:26633545|PMID:27854218|PMID:28492532|PMID:28818389|PMID:30609409|PMID:30611313|PMID:31680349|PMID:33333461|PMID:34008892 11871878 RYR1 ryanodine receptor 1 gene DOID:0110660 congenital myasthenic syndrome 12 ISO RGD:1316413 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Myasthenia, congenital, 12, with tubular aggregates PMID:25741868|PMID:28492532|PMID:29635721 11871878 RYR1 ryanodine receptor 1 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:24195946|PMID:25741868|PMID:28259615|PMID:28492532|PMID:33564012|PMID:34008892 11871878 RYR1 ryanodine receptor 1 gene DOID:0111375 fetal akinesia deformation sequence syndrome ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 PMID:20839240|PMID:21911697|PMID:22473935|PMID:23394784|PMID:25658027|PMID:25735680|PMID:25741868|PMID:28492532|PMID:30652412|PMID:31407473|PMID:31680123|PMID:32978841|PMID:34463354 11871878 RYR1 ryanodine receptor 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence PMID:20839240|PMID:21911697|PMID:22473935|PMID:23394784|PMID:25658027|PMID:25735680|PMID:25741868|PMID:28492532|PMID:30652412|PMID:31407473|PMID:31680123|PMID:32978841|PMID:34463354 11871878 RYR1 ryanodine receptor 1 gene DOID:11476 osteoporosis ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteoporosis PMID:25741868|PMID:28492532 11871878 RYR1 ryanodine receptor 1 gene DOID:11836 clubfoot ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Talipes Equinovarus PMID:16380615|PMID:17033962|PMID:17365175|PMID:17483490|PMID:18253|PMID:18253926|PMID:21911697|PMID:25741868|PMID:28492532|PMID:30611313|PMID:7299413 11871878 RYR1 ryanodine receptor 1 gene DOID:14717 centronuclear myopathy ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Centronuclear myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:22473935|PMID:25741868|PMID:28492532 11871878 RYR1 ryanodine receptor 1 gene DOID:1657 ventricular septal defect ISO RGD:1316413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:16835904|PMID:24033266|PMID:25741868 11871878 RYR1 ryanodine receptor 1 gene DOID:1686 glaucoma ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma PMID:25741868|PMID:28492532 11871878 RYR1 ryanodine receptor 1 gene DOID:1882 atrial heart septal defect ISO RGD:1316413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:16835904|PMID:24033266|PMID:25741868 11871878 RYR1 ryanodine receptor 1 gene DOID:3529 central core disease ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Central core disease | ClinVar Annotator: match by term: Central core disease of muscle | ClinVar Annotator: match by term: Central core disease, autosomal recessive | ClinVar Annotator: match by term: Central core myopathy | ClinVar Annotator: match by term: Shy-Magee syndrome PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12112081|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:12566385|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958053|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204054|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18312400|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21156754|PMID:21157159|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:21989361|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:2842332|PMID:28424332|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28750945|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409 11871878 RYR1 ryanodine receptor 1 gene DOID:3529 central core disease ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Central core disease | ClinVar Annotator: match by term: Central core disease of muscle | ClinVar Annotator: match by term: Central core disease, autosomal recessive | ClinVar Annotator: match by term: Central core myopathy | ClinVar Annotator: match by term: Shy-Magee syndrome PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31321302|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680123|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32573669|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34463354|PMID:34535181|PMID:34539730|PMID:34809703|PMID:35285867|PMID:35535697|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9030597|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 11871878 RYR1 ryanodine receptor 1 gene DOID:3529 central core disease susceptibility ISO RGD:1316413 D RGD:7240710 20230505 OMIM 11871878 RYR1 ryanodine receptor 1 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:25741868|PMID:28492532 11871878 RYR1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:10097181|PMID:11274444|PMID:11575529|PMID:11709545|PMID:11741831|PMID:12123492|PMID:12642598|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15448513|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16380615|PMID:16621918|PMID:16732084|PMID:16917943|PMID:16940|PMID:16940308|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:18171678|PMID:18253|PMID:18253926|PMID:18414213|PMID:18564801|PMID:18765655|PMID:19191333|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19825159|PMID:20142353|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:21062345|PMID:21157159|PMID:21674524|PMID:21825032|PMID:21911697|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22992668|PMID:23329375|PMID:23394784|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24195946|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24950660|PMID:25084811|PMID:25214167|PMID:25256590|PMID:25326635|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28818389|PMID:29172004|PMID:29293505|PMID:29298851|PMID:29382405|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30611313|PMID:30652412|PMID:30788618|PMID:31055738|PMID:31127727|PMID:31407473|PMID:31559918|PMID:31680123|PMID:31903994|PMID:32528171|PMID:33333461|PMID:34008892|PMID:4149045|PMID:7299413|PMID:8661021|PMID:9199552 11871878 RYR1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:10097181|PMID:11274444|PMID:11709545|PMID:11741831|PMID:12123492|PMID:12642598|PMID:15175001|PMID:15210166|PMID:15221887|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16380615|PMID:16621918|PMID:16732084|PMID:16917943|PMID:16940|PMID:16940308|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:18171678|PMID:18253|PMID:18253926|PMID:18414213|PMID:18564801|PMID:18765655|PMID:19191333|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19825159|PMID:20142353|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:21062345|PMID:21157159|PMID:21674524|PMID:21825032|PMID:21911697|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22992668|PMID:23329375|PMID:23394784|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24195946|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24950660|PMID:25084811|PMID:25214167|PMID:25256590|PMID:25326635|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28224104|PMID:28259615|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28818389|PMID:29172004|PMID:29298851|PMID:29382405|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30611313|PMID:30652412|PMID:30788618|PMID:31055738|PMID:31127727|PMID:31407473|PMID:31559918|PMID:31680123|PMID:31903994|PMID:32528171|PMID:32978841|PMID:33333461|PMID:34008892|PMID:34463354|PMID:4149045|PMID:7299413|PMID:8661021|PMID:9199552 11871878 RYR1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27854218|PMID:27918309|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31903994|PMID:31994743|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:35285867|PMID:35535697|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 11871878 RYR1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27854218|PMID:27918309|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31903994|PMID:31994743|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:35285867|PMID:35535697|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 11871878 RYR1 ryanodine receptor 1 gene DOID:423 myopathy ISO RGD:1316413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myopathy PMID:12467748|PMID:12565913|PMID:1256913|PMID:14670767|PMID:15731587|PMID:16199547|PMID:16917943|PMID:18414213|PMID:20583297|PMID:20839240|PMID:22473935|PMID:23183335|PMID:23553787|PMID:23558838|PMID:23919265|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25960145|PMID:28325813|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29576327|PMID:30155738 11871878 RYR1 ryanodine receptor 1 gene DOID:440 neuromuscular disease ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuromuscular disorder PMID:16917943|PMID:17033962|PMID:17483490|PMID:17576681|PMID:18253926|PMID:18414213|PMID:19191329|PMID:19645060|PMID:20080402|PMID:20583297|PMID:20839240|PMID:21062345|PMID:21455645|PMID:21911697|PMID:22473935|PMID:23394784|PMID:23553484|PMID:23553787|PMID:23628358|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24627108|PMID:24951453|PMID:25476234|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26019235|PMID:26332594|PMID:26633545|PMID:27854218|PMID:28492532|PMID:28818389|PMID:30609409|PMID:30611313|PMID:30842289|PMID:31680349|PMID:33190635|PMID:33333461|PMID:9536098 11871878 RYR1 ryanodine receptor 1 gene DOID:4450 renal cell carcinoma ISO RGD:1316413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 11871878 RYR1 ryanodine receptor 1 gene DOID:543 dystonia ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868 11871878 RYR1 ryanodine receptor 1 gene DOID:630 genetic disease ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10051009|PMID:10352931|PMID:10484775|PMID:10700782|PMID:10756965|PMID:10793526|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:12059893|PMID:12066726|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16163667|PMID:16199547|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:17033962|PMID:17081152|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18193641|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18945287|PMID:19191329|PMID:19191333|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:20142353|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20952238|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21965348|PMID:22473935|PMID:22992668|PMID:23394784|PMID:23459219|PMID:23476141|PMID:23553484|PMID:23558838|PMID:23628358|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24195946|PMID:24433488|PMID:24706162|PMID:25268394|PMID:25517095|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25882082|PMID:25957634|PMID:25960145|PMID:25987458|PMID:25989378|PMID:26381711|PMID:26467025|PMID:26951757|PMID:26994242|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27586648|PMID:27646467|PMID:27831900|PMID:27918309|PMID:28063098|PMID:28326467|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29178655|PMID:29382405|PMID:29635721|PMID:29792937|PMID:30155320|PMID:30236257|PMID:30236258|PMID:30406384|PMID:30499100|PMID:30611313|PMID:30788618|PMID:31016048|PMID:31135626|PMID:31206373|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33333461|PMID:34463354|PMID:34535181|PMID:34809703|PMID:35535697|PMID:4149045|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9030597|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9497245|PMID:9520251|PMID:9873004 11871878 RYR1 ryanodine receptor 1 gene DOID:8534 gastroesophageal reflux disease ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastroesophageal reflux PMID:25741868|PMID:28492532 11871878 RYR1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21088110|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:214555645|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25356970|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:28003660|PMID:28063098|PMID:28078069|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29576327|PMID:29608462|PMID:29635721|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384 11871878 RYR1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:31016048|PMID:31055738|PMID:31135626|PMID:31206373|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31903994|PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33490280|PMID:33625594|PMID:34008892|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 11871878 RYR1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18063506|PMID:18193641|PMID:18212565|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29635721|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100 11871878 RYR1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:31016048|PMID:31055738|PMID:31135626|PMID:31206373|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:33625594|PMID:34008892|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 11871878 RYR1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18063506|PMID:18193641|PMID:18212565|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29635721|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384 11871878 RYR1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:31016048|PMID:31055738|PMID:31135626|PMID:31206373|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:33625594|PMID:33767344|PMID:34008892|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 11871878 RYR1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29635721|PMID:29792937|PMID:30115273 11871878 RYR1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31135626|PMID:31206373|PMID:31301762|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34008892|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 11871878 RYR1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004 11871878 RYR1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32165824|PMID:32236737|PMID:32337335|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 11871878 RYR1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389 11871878 RYR1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32337335|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34463354|PMID:34535181|PMID:34809703|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 11871878 RYR1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721 11871878 RYR1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34463354|PMID:34535181|PMID:34809703|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 11871878 RYR1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia susceptibility ISO RGD:1316413 D RGD:7240710 20190502 OMIM 11871878 RYR1 ryanodine receptor 1 gene DOID:8927 learning disability ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Specific learning disability PMID:25741868|PMID:28492532 11871878 RYR1 ryanodine receptor 1 gene DOID:9000655 Hereditary Motor Neuropathy with Myopathic Features ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuromyopathy PMID:16917943|PMID:17033962|PMID:17483490|PMID:17576681|PMID:18253926|PMID:18414213|PMID:19191329|PMID:19645060|PMID:20080402|PMID:20583297|PMID:20839240|PMID:21062345|PMID:21455645|PMID:21911697|PMID:22473935|PMID:23394784|PMID:23553484|PMID:23553787|PMID:23628358|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24627108|PMID:24951453|PMID:25476234|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26019235|PMID:26332594|PMID:26633545|PMID:27854218|PMID:28492532|PMID:28818389|PMID:30609409|PMID:30611313|PMID:30842289|PMID:31680349|PMID:33190635|PMID:33333461|PMID:9536098 11871878 RYR1 ryanodine receptor 1 gene DOID:9000884 Rhabdomyolysis ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:25741868|PMID:28779239 11871878 RYR1 ryanodine receptor 1 gene DOID:9002119 Malignant Hypothermia ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant hypothermia PMID:14732627|PMID:16163667|PMID:16732084|PMID:16917943|PMID:18253926|PMID:18414213|PMID:19191329|PMID:19191333|PMID:20839240|PMID:20981092|PMID:21455645|PMID:21503806|PMID:21674524|PMID:22913516|PMID:22995991|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23558838|PMID:23628358|PMID:24195946|PMID:25735680|PMID:25741868|PMID:25957634|PMID:26467025|PMID:26994242|PMID:27153395|PMID:28003660|PMID:28492532|PMID:30611313|PMID:30724636|PMID:33333461|PMID:33458582 11871878 RYR1 ryanodine receptor 1 gene DOID:9003163 Heart Block ISO RGD:1316413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Heart block PMID:16835904|PMID:24033266|PMID:25741868 11871878 RYR1 ryanodine receptor 1 gene DOID:9003760 Myalgia ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myalgia PMID:24195946|PMID:25741868|PMID:28259615|PMID:28492532|PMID:33564012|PMID:34008892 11871878 RYR1 ryanodine receptor 1 gene DOID:9004757 Axial Myopathy, Late-Onset ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Axial myopathy, late-onset PMID:23329375|PMID:24033266|PMID:25741868|PMID:28492532 11871878 RYR1 ryanodine receptor 1 gene DOID:9005001 Congenital Neuromuscular Disease, with Uniform Type 1 Fiber ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuromuscular disease, congenital, with uniform type 1 fiber PMID:10888602|PMID:11709545|PMID:11741831|PMID:12565913|PMID:14670767|PMID:14732627|PMID:14985404|PMID:15731587|PMID:16163667|PMID:16372898|PMID:16621918|PMID:16732084|PMID:16835904|PMID:16917943|PMID:16940308|PMID:17081152|PMID:17226826|PMID:17365175|PMID:17483490|PMID:17538032|PMID:17576681|PMID:18414213|PMID:18719443|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19807743|PMID:20142353|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20981092|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21965348|PMID:22415532|PMID:22473935|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23460944|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25461839|PMID:25521991|PMID:25614869|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26332594|PMID:26467025|PMID:26565425|PMID:26994242|PMID:27147545|PMID:27153395|PMID:28003660|PMID:28326467|PMID:28492532|PMID:28496993|PMID:28687594|PMID:28818389|PMID:29178655|PMID:29298851|PMID:29382405|PMID:30122538|PMID:30325262|PMID:30724636|PMID:31135626|PMID:31559918|PMID:31742715|PMID:32098966|PMID:32528171|PMID:9536098 11871878 RYR1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18193641|PMID:18212565|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28325813|PMID:28326467|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29382405|PMID:29576327|PMID:29608462|PMID:29635721|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:31016048|PMID:31055738|PMID:31135626|PMID:31206373|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994 11871878 RYR1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33625594|PMID:33767344|PMID:34008892|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 11871878 RYR1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29576327|PMID:29608462|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289 11871878 RYR1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31135626|PMID:31206373|PMID:31301762|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34008892|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 11871878 RYR1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30236258 11871878 RYR1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 11871878 RYR1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fulminating hyperpyrexia | ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538 11871878 RYR1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fulminating hyperpyrexia | ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34463354|PMID:34535181|PMID:34809703|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 11871878 RYR1 ryanodine receptor 1 gene DOID:9005532 Muscle Weakness ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868|PMID:28492532 11871878 RYR1 ryanodine receptor 1 gene DOID:9005560 Congenital Hip Dislocation ISO RGD:1316413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital hip dislocation PMID:18813041|PMID:20301325|PMID:21878807|PMID:21918424|PMID:22473935|PMID:23329375|PMID:23394784|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27058611|PMID:27147545|PMID:27153395|PMID:28492532|PMID:30155738|PMID:30236257|PMID:30406384|PMID:30842289|PMID:33646171 11871878 RYR1 ryanodine receptor 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia PMID:16835904|PMID:24033266|PMID:25741868|PMID:28492532 11871878 RYR1 ryanodine receptor 1 gene DOID:9007052 Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay ISO RGD:1316413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy, progressive axial with cataracts PMID:18813041|PMID:20301325|PMID:21878807|PMID:21918424|PMID:22473935|PMID:23329375|PMID:23394784|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27058611|PMID:27147545|PMID:27153395|PMID:28492532|PMID:30155738|PMID:30236257|PMID:30406384|PMID:30842289|PMID:33646171 11871878 RYR1 ryanodine receptor 1 gene DOID:9007661 Dwarfism ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:19191333|PMID:25741868|PMID:28492532|PMID:32403337|PMID:33333461|PMID:34106991 11871878 RYR1 ryanodine receptor 1 gene DOID:9007908 Aortic Coarctation ISO RGD:1316413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Aorta coarctation PMID:16835904|PMID:24033266|PMID:25741868 11871878 RYR1 ryanodine receptor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11871878 RYR1 ryanodine receptor 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1316413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hydrops fetalis PMID:17033962|PMID:18414213|PMID:20080402|PMID:20583297|PMID:20839240|PMID:21911697|PMID:22473935|PMID:23553787|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24195946|PMID:24951453|PMID:25476234|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26633545|PMID:27854218|PMID:28492532|PMID:28818389|PMID:30609409|PMID:30611313|PMID:31680349|PMID:33333461 11871878 RYR1 ryanodine receptor 1 gene DOID:9008675 Dyskinesias ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Involuntary movements PMID:25741868 11871878 RYR1 ryanodine receptor 1 gene DOID:9008965 Bronchomalacia ISO RGD:1316413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bronchomalacia PMID:16835904|PMID:24033266|PMID:25741868 11871878 RYR1 ryanodine receptor 1 gene DOID:9008993 Myotonia ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myotonia PMID:25741868|PMID:28492532 11871878 RYR1 ryanodine receptor 1 gene DOID:9410 panhypopituitarism ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Panhypopituitarism PMID:25741868|PMID:28492532 11871878 RYR1 ryanodine receptor 1 gene DOID:9970 obesity ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868|PMID:28492532 11871988 TBCCD1 TBCC domain containing 1 gene DOID:0060575 3MC syndrome 1 ISO RGD:1605661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 11871988 TBCCD1 TBCC domain containing 1 gene DOID:630 genetic disease ISO RGD:1605661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11872016 C4H4orf51 chromosome 4 C4orf51 homolog gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:2974931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 11872016 C4H4orf51 chromosome 4 C4orf51 homolog gene DOID:630 genetic disease ISO RGD:2974931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11872026 GALK2 galactokinase 2 gene DOID:2717 Bloom syndrome ISO RGD:1318611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11872026 GALK2 galactokinase 2 gene DOID:630 genetic disease ISO RGD:1318611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11872026 GALK2 galactokinase 2 gene DOID:9256 colorectal cancer ISO RGD:1318611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11872055 RFX1 regulatory factor X1 gene DOID:630 genetic disease ISO RGD:1315268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11872143 PSME4 proteasome activator subunit 4 gene DOID:0050545 visceral heterotaxy ISO RGD:1557625 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 11872143 PSME4 proteasome activator subunit 4 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1345096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11872143 PSME4 proteasome activator subunit 4 gene DOID:630 genetic disease ISO RGD:1345096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11872198 USPL1 ubiquitin specific peptidase like 1 gene DOID:630 genetic disease ISO RGD:1321964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11872226 TJP2 tight junction protein 2 gene DOID:0014667 disease of metabolism susceptibility ISO RGD:733146 D RGD:9068941 20200609 RGD DNA:transition: ; 143T>C; familial hypercholanemia, OMIM:607748 PMID:12704386|REF_RGD_ID:734629 11872226 TJP2 tight junction protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:733146 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11872226 TJP2 tight junction protein 2 gene DOID:0070224 progressive familial intrahepatic cholestasis 4 ISO RGD:733146 D RGD:7240710 20180130 OMIM 11872226 TJP2 tight junction protein 2 gene DOID:0070224 progressive familial intrahepatic cholestasis 4 ISO RGD:733146 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 4 PMID:24033266|PMID:24614073|PMID:25741868|PMID:25921221|PMID:28492532|PMID:30311386|PMID:32089630 11872226 TJP2 tight junction protein 2 gene DOID:0110577 autosomal dominant nonsyndromic deafness 51 ISO RGD:733146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 51 PMID:20602916 11872226 TJP2 tight junction protein 2 gene DOID:10763 hypertension ISO RGD:619807 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:17234953|REF_RGD_ID:1600163 11872226 TJP2 tight junction protein 2 gene DOID:14702 branchiootorenal syndrome ISO RGD:733146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melnick-Fraser syndrome PMID:25741868|PMID:30311386 11872226 TJP2 tight junction protein 2 gene DOID:1852 intrahepatic cholestasis ISO RGD:733146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24614073 11872226 TJP2 tight junction protein 2 gene DOID:630 genetic disease ISO RGD:733146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10601346|PMID:25741868|PMID:28492532 11872226 TJP2 tight junction protein 2 gene DOID:9004538 Hearing Loss ISO RGD:733146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 11872226 TJP2 tight junction protein 2 gene DOID:9005961 Familial Hypercholanemia 1 ISO RGD:733146 D RGD:7240710 20210414 OMIM 11872226 TJP2 tight junction protein 2 gene DOID:9005961 Familial Hypercholanemia 1 ISO RGD:733146 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypercholanemia, familial 1 PMID:12704386|PMID:23767834|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28924228|PMID:29238877 11872226 TJP2 tight junction protein 2 gene DOID:9007118 Familial Hypercholanemia ISO RGD:733146 D RGD:9068941 20210430 CTD CTD Direct Evidence: marker/mechanism 11872226 TJP2 tight junction protein 2 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:733146 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 11872288 CACFD1 calcium channel flower domain containing 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1322993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 11872288 CACFD1 calcium channel flower domain containing 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1322993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11872288 CACFD1 calcium channel flower domain containing 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1322993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11872288 CACFD1 calcium channel flower domain containing 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1322993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11872288 CACFD1 calcium channel flower domain containing 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1322993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11872288 CACFD1 calcium channel flower domain containing 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1322993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11872288 CACFD1 calcium channel flower domain containing 1 gene DOID:3652 Leigh disease ISO RGD:1322993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11872288 CACFD1 calcium channel flower domain containing 1 gene DOID:630 genetic disease ISO RGD:1322993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11872301 TAS2R39 taste 2 receptor member 39 gene DOID:630 genetic disease ISO RGD:1350058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11872304 DTNBP1 dystrobrevin binding protein 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1342501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 11872304 DTNBP1 dystrobrevin binding protein 1 gene DOID:0060545 Hermansky-Pudlak syndrome 7 ISO RGD:1342501 D RGD:7240710 20180130 OMIM 11872304 DTNBP1 dystrobrevin binding protein 1 gene DOID:0060545 Hermansky-Pudlak syndrome 7 ISO RGD:1342501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 7 PMID:12923531|PMID:23364359|PMID:25741868|PMID:28259707|PMID:28492532|PMID:30990103 11872304 DTNBP1 dystrobrevin binding protein 1 gene DOID:150 disease of mental health ISO RGD:1342501 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25298178 11872304 DTNBP1 dystrobrevin binding protein 1 gene DOID:2223 platelet storage pool deficiency ISO RGD:1619063 D RGD:9068941 20220825 MouseDO OMIM:185050 11872304 DTNBP1 dystrobrevin binding protein 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:1342501 D RGD:9068941 20200609 RGD protein:increased expression:temporal cortex PMID:22337344|REF_RGD_ID:11251761 11872304 DTNBP1 dystrobrevin binding protein 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:1590759 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, hippocampus PMID:22337344|REF_RGD_ID:11251761 11872304 DTNBP1 dystrobrevin binding protein 1 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1342501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:24033266|PMID:28492532 11872304 DTNBP1 dystrobrevin binding protein 1 gene DOID:5419 schizophrenia ISO RGD:1342501 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 11872304 DTNBP1 dystrobrevin binding protein 1 gene DOID:5419 schizophrenia ISO RGD:1342501 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:intron, promoter:multiple PMID:15345706|REF_RGD_ID:11251758 11872304 DTNBP1 dystrobrevin binding protein 1 gene DOID:5419 schizophrenia ISO RGD:1342501 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:12474144|REF_RGD_ID:1358610 11872304 DTNBP1 dystrobrevin binding protein 1 gene DOID:5419 schizophrenia ISO RGD:1619063 D RGD:9068941 20220825 MouseDO OMIM:181500 11872304 DTNBP1 dystrobrevin binding protein 1 gene DOID:630 genetic disease ISO RGD:1342501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11872342 KRT20 keratin 20 gene DOID:299 adenocarcinoma ISO RGD:1347381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 11872342 KRT20 keratin 20 gene DOID:630 genetic disease ISO RGD:1347381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11872342 KRT20 keratin 20 gene DOID:9000217 Stomach Neoplasms ISO RGD:1347381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 11872342 KRT20 keratin 20 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1347381 D RGD:9068941 20200609 RGD associated with Colorectal Neoplasms PMID:10931219|REF_RGD_ID:2317676 11872342 KRT20 keratin 20 gene DOID:9003694 Cecal Neoplasms ISO RGD:1347381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14688030 11872342 KRT20 keratin 20 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1347381 D RGD:9068941 20220224 RGD PMID:23322277|REF_RGD_ID:151356994 11872354 MEIOC meiosis specific with coiled-coil domain gene DOID:630 genetic disease ISO RGD:1605246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11872366 S100A8 S100 calcium binding protein A8 gene DOID:0111940 immunodeficiency 42 ISO RGD:1349531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11872366 S100A8 S100 calcium binding protein A8 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1349531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11872366 S100A8 S100 calcium binding protein A8 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1349531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11872366 S100A8 S100 calcium binding protein A8 gene DOID:11054 urinary bladder cancer ISO RGD:1349531 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:17970044|REF_RGD_ID:2316906 11872366 S100A8 S100 calcium binding protein A8 gene DOID:11054 urinary bladder cancer ISO RGD:620265 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:17970044|REF_RGD_ID:2316906 11872366 S100A8 S100 calcium binding protein A8 gene DOID:11054 urinary bladder cancer ISO RGD:733916 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:17970044|REF_RGD_ID:2316906 11872366 S100A8 S100 calcium binding protein A8 gene DOID:1540 parathyroid carcinoma ISO RGD:1349531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11872366 S100A8 S100 calcium binding protein A8 gene DOID:2773 contact dermatitis ISO RGD:1349531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11872366 S100A8 S100 calcium binding protein A8 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1349531 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 11872366 S100A8 S100 calcium binding protein A8 gene DOID:3310 atopic dermatitis ISO RGD:1349531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18336422 11872366 S100A8 S100 calcium binding protein A8 gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:1349531 D RGD:9068941 20220303 RGD protein:increased expression:blood (human) PMID:32663515|REF_RGD_ID:151660329 11872366 S100A8 S100 calcium binding protein A8 gene DOID:5812 MHC class II deficiency ISO RGD:1349531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11872366 S100A8 S100 calcium binding protein A8 gene DOID:630 genetic disease ISO RGD:1349531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11872366 S100A8 S100 calcium binding protein A8 gene DOID:820 myocarditis ISO RGD:1349531 D RGD:9068941 20200609 RGD PMID:19151078|REF_RGD_ID:2316903 11872366 S100A8 S100 calcium binding protein A8 gene DOID:9000058 Keloid ISO RGD:1349531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 11872366 S100A8 S100 calcium binding protein A8 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1349531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22248470 11872366 S100A8 S100 calcium binding protein A8 gene DOID:9002457 Experimental Arthritis ISO RGD:620265 D RGD:9068941 20200609 RGD PMID:8343166|REF_RGD_ID:633930 11872366 S100A8 S100 calcium binding protein A8 gene DOID:9005372 Inflammation ISO RGD:620265 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15221771|REF_RGD_ID:2316912 11872366 S100A8 S100 calcium binding protein A8 gene DOID:9119 acute myeloid leukemia ISO RGD:1349531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21971985 11872366 S100A8 S100 calcium binding protein A8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11872373 TSPYL1 TSPY like 1 gene DOID:0060163 body dysmorphic disorder ISO RGD:1348944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 11872373 TSPYL1 TSPY like 1 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1348944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 11872373 TSPYL1 TSPY like 1 gene DOID:0080600 COVID-19 ISO RGD:1348944 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11872373 TSPYL1 TSPY like 1 gene DOID:14447 gonadal dysgenesis ISO RGD:1348944 D RGD:9068941 20200609 RGD sudden infant death with dysgenesis of the testes syndrome (SIDDT), OMIM:608800 PMID:15273283|REF_RGD_ID:1599672 11872373 TSPYL1 TSPY like 1 gene DOID:630 genetic disease ISO RGD:1348944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11872373 TSPYL1 TSPY like 1 gene DOID:9000938 Sudden Infant Death with Dysgenesis of the Testes Syndrome ISO RGD:1348944 D RGD:7240710 20180130 OMIM 11872373 TSPYL1 TSPY like 1 gene DOID:9000938 Sudden Infant Death with Dysgenesis of the Testes Syndrome ISO RGD:1348944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden infant death with dysgenesis of the testes syndrome PMID:15273283|PMID:25741868 11872373 TSPYL1 TSPY like 1 gene DOID:9007 sudden infant death syndrome ISO RGD:1348944 D RGD:9068941 20200609 RGD sudden infant death with dysgenesis of the testes syndrome (SIDDT), OMIM:608800 PMID:15273283|REF_RGD_ID:1599672 11872391 ITGA6 integrin subunit alpha 6 gene DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ISO RGD:731429 D RGD:7240710 20180130 OMIM 11872391 ITGA6 integrin subunit alpha 6 gene DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ISO RGD:731429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia PMID:14675179|PMID:23496044|PMID:25741868|PMID:27607025|PMID:28492532|PMID:9185503 11872391 ITGA6 integrin subunit alpha 6 gene DOID:0060737 junctional epidermolysis bullosa Herlitz type ISO RGD:731430 D RGD:9068941 20220825 MouseDO OMIM:226700 11872391 ITGA6 integrin subunit alpha 6 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:731429 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11872391 ITGA6 integrin subunit alpha 6 gene DOID:3209 junctional epidermolysis bullosa ISO RGD:731429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa PMID:21357940|PMID:25741868 11872391 ITGA6 integrin subunit alpha 6 gene DOID:630 genetic disease ISO RGD:731429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11872391 ITGA6 integrin subunit alpha 6 gene DOID:7148 rheumatoid arthritis ISO RGD:731429 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17379860 11872391 ITGA6 integrin subunit alpha 6 gene DOID:9000965 Neoplasm Metastasis ISO RGD:621633 D RGD:9068941 20200609 RGD PMID:13130099|REF_RGD_ID:1302259 11872431 CILK1 ciliogenesis associated kinase 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1345110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:27466187 11872431 CILK1 ciliogenesis associated kinase 1 gene DOID:0060641 endocrine-cerebro-osteodysplasia syndrome ISO RGD:1345110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endocrine-cerebro-osteodysplasia syndrome PMID:19185282|PMID:25741868|PMID:25741883|PMID:27069622|PMID:28492532 11872431 CILK1 ciliogenesis associated kinase 1 gene DOID:0060641 endocrine-cerebro-osteodysplasia syndrome susceptibility ISO RGD:1345110 D RGD:7240710 20230517 OMIM 11872431 CILK1 ciliogenesis associated kinase 1 gene DOID:0111325 juvenile myoclonic epilepsy 10 susceptibility ISO RGD:1345110 D RGD:7240710 20230517 OMIM 11872431 CILK1 ciliogenesis associated kinase 1 gene DOID:12270 coloboma ISO RGD:1345110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:25741868 11872431 CILK1 ciliogenesis associated kinase 1 gene DOID:1826 epilepsy ISO RGD:1345110 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11872431 CILK1 ciliogenesis associated kinase 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1345110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, juvenile myoclonic, susceptibility to, 10 | ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532|PMID:29539279 11872431 CILK1 ciliogenesis associated kinase 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1345110 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Epilepsy, juvenile myoclonic, susceptibility to, 10 PMID:25741868|PMID:28492532|PMID:29539279|PMID:32178256 11872431 CILK1 ciliogenesis associated kinase 1 gene DOID:630 genetic disease ISO RGD:1345110 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11872459 SIVA1 SIVA1 apoptosis inducing factor gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1603317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11872459 SIVA1 SIVA1 apoptosis inducing factor gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1603317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 11872459 SIVA1 SIVA1 apoptosis inducing factor gene DOID:630 genetic disease ISO RGD:1603317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11872459 SIVA1 SIVA1 apoptosis inducing factor gene DOID:9000220 Coxsackievirus Infections ISO RGD:1603317 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16683188 11872471 MFGE8 milk fat globule EGF and factor V/VIII domain containing gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:736002 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 11872471 MFGE8 milk fat globule EGF and factor V/VIII domain containing gene DOID:13375 temporal arteritis ISO RGD:736002 D RGD:9068941 20200609 RGD PMID:11748647|REF_RGD_ID:1582497 11872471 MFGE8 milk fat globule EGF and factor V/VIII domain containing gene DOID:2717 Bloom syndrome ISO RGD:736002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11872471 MFGE8 milk fat globule EGF and factor V/VIII domain containing gene DOID:630 genetic disease ISO RGD:736002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11872471 MFGE8 milk fat globule EGF and factor V/VIII domain containing gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 11872471 MFGE8 milk fat globule EGF and factor V/VIII domain containing gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21505870 11872471 MFGE8 milk fat globule EGF and factor V/VIII domain containing gene DOID:9008939 Breast Neoplasms ISO RGD:736002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127199 11872471 MFGE8 milk fat globule EGF and factor V/VIII domain containing gene DOID:9256 colorectal cancer ISO RGD:736002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11872484 NACC2 NACC family member 2 gene DOID:0050777 Joubert syndrome ISO RGD:1319559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11872484 NACC2 NACC family member 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1319559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:27891178|PMID:28492532|PMID:31209758 11872484 NACC2 NACC family member 2 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1319559 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11872484 NACC2 NACC family member 2 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1319559 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11872484 NACC2 NACC family member 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1319559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11872484 NACC2 NACC family member 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1319559 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11872484 NACC2 NACC family member 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1319559 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11872484 NACC2 NACC family member 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1319559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11872484 NACC2 NACC family member 2 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1319559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 11872484 NACC2 NACC family member 2 gene DOID:3652 Leigh disease ISO RGD:1319559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11872484 NACC2 NACC family member 2 gene DOID:630 genetic disease ISO RGD:1319559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11872484 NACC2 NACC family member 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1319559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 11872506 IFNA8 interferon alpha 8 gene DOID:0080642 Middle East respiratory syndrome disease_progression ISO RGD:1621621 D RGD:9068941 20200618 RGD PMID:30626685|REF_RGD_ID:30309198 11872506 IFNA8 interferon alpha 8 gene DOID:5419 schizophrenia ISO RGD:1345453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11872506 IFNA8 interferon alpha 8 gene DOID:630 genetic disease ISO RGD:1345453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11872511 DNASE1 deoxyribonuclease 1 gene DOID:0060643 primary sclerosing cholangitis ISO RGD:736197 D RGD:9068941 20200813 RGD protein:decreased activity:serum (human) PMID:28263100|REF_RGD_ID:38500241 11872511 DNASE1 deoxyribonuclease 1 gene DOID:0080205 CAKUT ISO RGD:736197 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:28492532|PMID:30143558 11872511 DNASE1 deoxyribonuclease 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11872511 DNASE1 deoxyribonuclease 1 gene DOID:12236 primary biliary cholangitis ISO RGD:736197 D RGD:9068941 20200813 RGD protein:decreased activity:serum (human) PMID:28263100|REF_RGD_ID:38500241 11872511 DNASE1 deoxyribonuclease 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:736197 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28780505 11872511 DNASE1 deoxyribonuclease 1 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:736197 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868 11872511 DNASE1 deoxyribonuclease 1 gene DOID:1682 congenital heart disease ISO RGD:736197 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 11872511 DNASE1 deoxyribonuclease 1 gene DOID:1826 epilepsy ISO RGD:736197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11872511 DNASE1 deoxyribonuclease 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736197 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11872511 DNASE1 deoxyribonuclease 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:736197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 11872511 DNASE1 deoxyribonuclease 1 gene DOID:2048 autoimmune hepatitis ISO RGD:736197 D RGD:9068941 20200813 RGD protein:decreased activity:serum (human) PMID:28263100|REF_RGD_ID:38500241 11872511 DNASE1 deoxyribonuclease 1 gene DOID:3459 breast carcinoma ISO RGD:736197 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: HER2 positive breast carcinoma PMID:25741868|PMID:28492532 11872511 DNASE1 deoxyribonuclease 1 gene DOID:4455 hereditary renal cell carcinoma ISO RGD:736197 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary renal cell carcinoma PMID:28492532 11872511 DNASE1 deoxyribonuclease 1 gene DOID:576 proteinuria ISO RGD:736197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22479529 11872511 DNASE1 deoxyribonuclease 1 gene DOID:630 genetic disease ISO RGD:736197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11872511 DNASE1 deoxyribonuclease 1 gene DOID:9005700 Airway Obstruction ISO RGD:736197 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28780505 11872511 DNASE1 deoxyribonuclease 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:736197 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to PMID:10835632|PMID:11479590|PMID:15333586|PMID:18486922|PMID:24206041|PMID:25741868 11872511 DNASE1 deoxyribonuclease 1 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:736197 D RGD:7240710 20230505 OMIM 11872542 WDR73 WD repeat domain 73 gene DOID:0060364 Galloway-Mowat syndrome 1 ISO RGD:1602852 D RGD:7240710 20190313 OMIM 11872542 WDR73 WD repeat domain 73 gene DOID:0060364 Galloway-Mowat syndrome 1 ISO RGD:1602852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 PMID:11391656|PMID:12030328|PMID:16217710|PMID:20531441|PMID:25466283|PMID:25741868|PMID:25873735|PMID:26070982|PMID:26123727|PMID:27001912|PMID:28492532|PMID:29127259|PMID:30315938|PMID:31130284 11872542 WDR73 WD repeat domain 73 gene DOID:0080694 Galloway-Mowat syndrome ISO RGD:1602852 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25466283 11872542 WDR73 WD repeat domain 73 gene DOID:1184 nephrotic syndrome ISO RGD:1602852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:16217710|PMID:25741868|PMID:25873735|PMID:26123727|PMID:29127259 11872542 WDR73 WD repeat domain 73 gene DOID:1826 epilepsy ISO RGD:1602852 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:32581362 11872542 WDR73 WD repeat domain 73 gene DOID:2717 Bloom syndrome ISO RGD:1602852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11872542 WDR73 WD repeat domain 73 gene DOID:543 dystonia ISO RGD:1602852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11872542 WDR73 WD repeat domain 73 gene DOID:630 genetic disease ISO RGD:1602852 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532|PMID:9536098 11872542 WDR73 WD repeat domain 73 gene DOID:9256 colorectal cancer ISO RGD:1602852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11872554 TAX1BP1 Tax1 binding protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11872554 TAX1BP1 Tax1 binding protein 1 gene DOID:630 genetic disease ISO RGD:1348047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:0060643 primary sclerosing cholangitis ISO RGD:11094 D RGD:9068941 20220825 MouseDO OMIM:613806 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:0070221 progressive familial intrahepatic cholestasis ISO RGD:736946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis PMID:15077010|PMID:16199547|PMID:17726488|PMID:19467940|PMID:20422496|PMID:20537830|PMID:22331132|PMID:23022423|PMID:23533021|PMID:25741868|PMID:25755532|PMID:25807286|PMID:26126923|PMID:26256905|PMID:26324191|PMID:26474921|PMID:28039895|PMID:28492532|PMID:28587926|PMID:28776642|PMID:28924228|PMID:29761167|PMID:30449124|PMID:31130284|PMID:31181191|PMID:31538484|PMID:31625567|PMID:31728073|PMID:32581362|PMID:32626542|PMID:32917322|PMID:33915153|PMID:34016879|PMID:34678161 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:0070223 progressive familial intrahepatic cholestasis 3 ISO RGD:736946 D RGD:7240710 20180130 OMIM 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:0070223 progressive familial intrahepatic cholestasis 3 ISO RGD:736946 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ABCB4-Related Intrahepatic Cholestasis | ClinVar Annotator: match by term: Low Gamma-GT Familial Intrahepatic Cholestasis | ClinVar Annotator: match by term: MDR3 deficiency PMID:11313316|PMID:12891548|PMID:14999697|PMID:15077010|PMID:16696816|PMID:16763017|PMID:16890614|PMID:17726488|PMID:18083082|PMID:18482588|PMID:19018976|PMID:19490418|PMID:19584064|PMID:19840255|PMID:20422496|PMID:20537830|PMID:20849526|PMID:21119540|PMID:21514256|PMID:22331132|PMID:23022423|PMID:23217326|PMID:23533021|PMID:23820649|PMID:24033266|PMID:24381502|PMID:24594635|PMID:24723470|PMID:24806754|PMID:24914347|PMID:25741868|PMID:25755532|PMID:25807286|PMID:26126923|PMID:26153658|PMID:26324191|PMID:26474921|PMID:26699824|PMID:26900700|PMID:27256251|PMID:28355206|PMID:28492532|PMID:28733223|PMID:28776642|PMID:28924228|PMID:29238877|PMID:31000363|PMID:31319225|PMID:31538484|PMID:32321542|PMID:32581362|PMID:32893960|PMID:33757843|PMID:8666348|PMID:9419367|PMID:9923886 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:0070226 progressive familial intrahepatic cholestasis 1 ISO RGD:736946 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Byler disease PMID:12891548|PMID:17726488|PMID:18482588|PMID:19467940|PMID:19584064|PMID:20422496|PMID:20537830|PMID:21119540|PMID:22331132|PMID:23022423|PMID:23533021|PMID:24723470|PMID:25741868|PMID:25807286|PMID:26126923|PMID:26153658|PMID:26324191|PMID:26474921|PMID:26900700|PMID:27256251|PMID:28355206|PMID:28492532|PMID:28587926|PMID:28733223|PMID:28776642|PMID:31000363|PMID:31538484|PMID:32581362|PMID:32626542|PMID:32917322|PMID:33757843|PMID:34678161 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:0070227 intrahepatic cholestasis of pregnancy ISO RGD:736946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:0070229 intrahepatic cholestasis of pregnancy 3 ISO RGD:736946 D RGD:7240710 20180130 OMIM 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:0070229 intrahepatic cholestasis of pregnancy 3 ISO RGD:736946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 PMID:10767346|PMID:11313316|PMID:12891548|PMID:14999697|PMID:15077010|PMID:16199547|PMID:16696816|PMID:16763017|PMID:16890614|PMID:17726488|PMID:18083082|PMID:18482588|PMID:19018976|PMID:19185004|PMID:19467940|PMID:19490418|PMID:19584064|PMID:19840255|PMID:20422496|PMID:20537830|PMID:20849526|PMID:21119540|PMID:22331132|PMID:23022423|PMID:23217326|PMID:23533021|PMID:23820649|PMID:24033266|PMID:24381502|PMID:24723470|PMID:24806754|PMID:24914347|PMID:25741868|PMID:25755532|PMID:25807286|PMID:26126923|PMID:26153658|PMID:26324191|PMID:26474921|PMID:26699824|PMID:26900700|PMID:27256251|PMID:28039895|PMID:28355206|PMID:28492532|PMID:28587926|PMID:28733223|PMID:28776642|PMID:28924228|PMID:29238877|PMID:31000363|PMID:31130284|PMID:31538484|PMID:31625567|PMID:31728073|PMID:32321542|PMID:32581362|PMID:32626542|PMID:32893960|PMID:32917322|PMID:33390354|PMID:33915153|PMID:34016879|PMID:8666348|PMID:9419367|PMID:9923886 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:736946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20040336 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:12236 primary biliary cholangitis ISO RGD:736946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20040336|PMID:30682444 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:12236 primary biliary cholangitis disease_progression ISO RGD:736946 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype, diplotype: : rs31658, rs31672,rs1149222(human) PMID:18671305|REF_RGD_ID:14694982 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:12236 primary biliary cholangitis treatment ISO RGD:11094 D RGD:9068941 20220728 RGD PMID:21209952|REF_RGD_ID:153297773 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:13580 cholestasis ISO RGD:11094 D RGD:9068941 20220825 MouseDO 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:13580 cholestasis ISO RGD:620248 D RGD:9068941 20200609 RGD PMID:11680581|REF_RGD_ID:1598589 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:13580 cholestasis ISO RGD:736946 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:26324191|REF_RGD_ID:11565494 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:13603 obstructive jaundice ISO RGD:736946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22022477 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:14268 sclerosing cholangitis ISO RGD:11094 D RGD:9068941 20200609 RGD PMID:15236191|REF_RGD_ID:14694980 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:14268 sclerosing cholangitis ISO RGD:736946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16472600|PMID:29808285 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:1852 intrahepatic cholestasis ISO RGD:736946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive intrahepatic cholestasis PMID:19467940|PMID:20422496|PMID:23022423|PMID:23533021|PMID:25741868|PMID:25807286|PMID:26324191|PMID:26474921|PMID:28492532|PMID:28587926|PMID:28776642|PMID:32581362|PMID:32626542|PMID:32917322|PMID:34678161 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:1852 intrahepatic cholestasis treatment ISO RGD:736946 D RGD:9068941 20200609 RGD PMID:30935993|REF_RGD_ID:14695045 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:1949 cholecystitis ISO RGD:11094 D RGD:9068941 20220825 MouseDO OMIM:600803 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:409 liver disease ISO RGD:736946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29808285 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:5082 liver cirrhosis ISO RGD:736946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18221819|PMID:8698195 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:5082 liver cirrhosis severity ISO RGD:736946 D RGD:9068941 20200609 RGD associated with cholestasis;DNA:mutations: : PMID:18482588|REF_RGD_ID:14694975 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:736946 D RGD:9068941 20200609 RGD associated with cystic fibrosis;DNA:SNP:exon:c.504T>C(human) PMID:19467940|REF_RGD_ID:4889446 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:630 genetic disease ISO RGD:736946 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:11094 D RGD:9068941 20220825 MouseDO OMIM:114550 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:736946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22022477 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:9000144 Chronic Disease ISO RGD:736946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29808285 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:9000918 Disease Progression ISO RGD:736946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:9004618 Gallbladder Disease 1 ISO RGD:736946 D RGD:7240710 20180130 OMIM 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:9004618 Gallbladder Disease 1 ISO RGD:736946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gallbladder disease 1 | ClinVar Annotator: match by term: Low phospholipid associated cholelithiasis PMID:11313316|PMID:12891548|PMID:14999697|PMID:15077010|PMID:16763017|PMID:16890614|PMID:17726488|PMID:18482588|PMID:19018976|PMID:19490418|PMID:19584064|PMID:19840255|PMID:20422496|PMID:20537830|PMID:21119540|PMID:22331132|PMID:23022423|PMID:23533021|PMID:24033266|PMID:24381502|PMID:24594635|PMID:24723470|PMID:24806754|PMID:24914347|PMID:25741868|PMID:25807286|PMID:26153658|PMID:26256905|PMID:26324191|PMID:26474921|PMID:26699824|PMID:28355206|PMID:28492532|PMID:28587926|PMID:28733223|PMID:28776642|PMID:28924228|PMID:29238877|PMID:29761167|PMID:30449124|PMID:31181191|PMID:31538484|PMID:32581362|PMID:32893960|PMID:8666348|PMID:9419367 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:9005369 Hepatomegaly treatment ISO RGD:11094 D RGD:9068941 20220728 RGD PMID:21209952|REF_RGD_ID:153297773 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:9005372 Inflammation ISO RGD:736946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22022477 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620248 D RGD:9068941 20200609 RGD PMID:12055592|REF_RGD_ID:1598588 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:9006205 Animal Disease Models ISO RGD:736946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16472600|PMID:29808285 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:9007996 End Stage Liver Disease ISO RGD:736946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22022477 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:9439 chronic cholangitis ISO RGD:11094 D RGD:9068941 20200609 RGD PMID:17852852|REF_RGD_ID:14694983 11872586 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:9446 cholangitis ISO RGD:736946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8698195 11872616 TNS1 tensin 1 gene DOID:630 genetic disease ISO RGD:68636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11872616 TNS1 tensin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11872669 MTSS1 MTSS I-BAR domain containing 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1320467 D RGD:9068941 20220825 MouseDO OMIM:605027 11872669 MTSS1 MTSS I-BAR domain containing 1 gene DOID:0112079 nuclear type mitochondrial complex I deficiency 24 ISO RGD:1320466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 11872669 MTSS1 MTSS I-BAR domain containing 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1320466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11872669 MTSS1 MTSS I-BAR domain containing 1 gene DOID:630 genetic disease ISO RGD:1320466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11872669 MTSS1 MTSS I-BAR domain containing 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1320466 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11872669 MTSS1 MTSS I-BAR domain containing 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1320466 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11872706 CCL21 C-C motif chemokine ligand 21 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1323745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11872706 CCL21 C-C motif chemokine ligand 21 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1323745 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11872706 CCL21 C-C motif chemokine ligand 21 gene DOID:0080942 anauxetic dysplasia ISO RGD:1323745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11872706 CCL21 C-C motif chemokine ligand 21 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1323745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11872706 CCL21 C-C motif chemokine ligand 21 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1323745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11872706 CCL21 C-C motif chemokine ligand 21 gene DOID:3770 pulmonary fibrosis ISO RGD:1323745 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17717200|REF_RGD_ID:5130910 11872706 CCL21 C-C motif chemokine ligand 21 gene DOID:630 genetic disease ISO RGD:1323745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11872706 CCL21 C-C motif chemokine ligand 21 gene DOID:7148 rheumatoid arthritis ISO RGD:1323745 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18794853|PMID:20453842|PMID:23143596 11872706 CCL21 C-C motif chemokine ligand 21 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1323745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11872706 CCL21 C-C motif chemokine ligand 21 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:1323745 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:23593305|REF_RGD_ID:38508895 11872706 CCL21 C-C motif chemokine ligand 21 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1323745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11872706 CCL21 C-C motif chemokine ligand 21 gene DOID:9870 galactosemia ISO RGD:1323745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11872714 KCNN4 potassium calcium-activated channel subfamily N member 4 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:732698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 11872714 KCNN4 potassium calcium-activated channel subfamily N member 4 gene DOID:0111575 dehydrated hereditary stomatocytosis ISO RGD:732698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11872714 KCNN4 potassium calcium-activated channel subfamily N member 4 gene DOID:0111576 dehydrated hereditary stomatocytosis 1 ISO RGD:732698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema PMID:25741868 11872714 KCNN4 potassium calcium-activated channel subfamily N member 4 gene DOID:0111577 dehydrated hereditary stomatocytosis 2 ISO RGD:732698 D RGD:7240710 20180130 OMIM 11872714 KCNN4 potassium calcium-activated channel subfamily N member 4 gene DOID:0111577 dehydrated hereditary stomatocytosis 2 ISO RGD:732698 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 2 PMID:25741868|PMID:26148990|PMID:26178367|PMID:26198474|PMID:28492532|PMID:4851153|PMID:6473461|PMID:652816|PMID:687829 11872714 KCNN4 potassium calcium-activated channel subfamily N member 4 gene DOID:5419 schizophrenia ISO RGD:732698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11872714 KCNN4 potassium calcium-activated channel subfamily N member 4 gene DOID:630 genetic disease ISO RGD:732698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11872714 KCNN4 potassium calcium-activated channel subfamily N member 4 gene DOID:9002457 Experimental Arthritis ameliorates ISO RGD:732699 D RGD:9068941 20211112 RGD PMID:25131209|REF_RGD_ID:150521609 11872714 KCNN4 potassium calcium-activated channel subfamily N member 4 gene DOID:9004927 Stomatocytosis II ISO RGD:732698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stomatocytosis II PMID:25741868 11872714 KCNN4 potassium calcium-activated channel subfamily N member 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621476 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta, smooth muscle PMID:24589593|REF_RGD_ID:10412030 11872733 GCFC2 GC-rich sequence DNA-binding factor 2 gene DOID:630 genetic disease ISO RGD:1312440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11872758 FGF12 fibroblast growth factor 12 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1348702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early onset epileptic encephalopathy PMID:25741868|PMID:27164707|PMID:27830185|PMID:27872899|PMID:28135719|PMID:28492532|PMID:28506426|PMID:28554332|PMID:28991257|PMID:29100083|PMID:29652076|PMID:29699863 11872758 FGF12 fibroblast growth factor 12 gene DOID:0080425 developmental and epileptic encephalopathy 47 ISO RGD:1348702 D RGD:7240710 20190315 OMIM 11872758 FGF12 fibroblast growth factor 12 gene DOID:0080425 developmental and epileptic encephalopathy 47 ISO RGD:1348702 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 47 PMID:17576681|PMID:25741868|PMID:27164707|PMID:27830185|PMID:27872899|PMID:28135719|PMID:28492532|PMID:28506426|PMID:28554332|PMID:28991257|PMID:29100083|PMID:29652076|PMID:29699863|PMID:31292943|PMID:32645220|PMID:9536098 11872758 FGF12 fibroblast growth factor 12 gene DOID:1826 epilepsy ISO RGD:1348702 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:27164707|PMID:27830185|PMID:27872899|PMID:28135719|PMID:28492532|PMID:28506426|PMID:28554332|PMID:28991257|PMID:29100083|PMID:29652076|PMID:29699863 11872758 FGF12 fibroblast growth factor 12 gene DOID:5419 schizophrenia ISO RGD:1348702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11872758 FGF12 fibroblast growth factor 12 gene DOID:630 genetic disease ISO RGD:1348702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11872758 FGF12 fibroblast growth factor 12 gene DOID:9005369 Hepatomegaly ISO RGD:1348702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 11872774 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:0050851 glomerulosclerosis treatment ISO RGD:737511 D RGD:9068941 20201225 RGD PMID:22125642|REF_RGD_ID:40902998 11872774 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:0050855 renal fibrosis treatment ISO RGD:737511 D RGD:9068941 20200911 RGD associated with primary hyperaldosteronism PMID:24108235|REF_RGD_ID:38599161 11872774 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:732787 D RGD:9068941 20200806 RGD DNA:mutations:multiple (human) PMID:11317351|REF_RGD_ID:737766 11872774 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:1074 kidney failure severity ISO RGD:620460 D RGD:9068941 20200910 RGD protein:decreased expression:kidney (rat) PMID:18346151|REF_RGD_ID:38599007 11872774 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:10976 membranous glomerulonephritis ISO RGD:620460 D RGD:9068941 20200609 RGD PMID:15882266|REF_RGD_ID:1598706 11872774 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:1184 nephrotic syndrome ISO RGD:737511 D RGD:9068941 20200910 RGD mRNA,protein:decreased expression:podocyte (mouse) PMID:22493483|REF_RGD_ID:38599005 11872774 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:1184 nephrotic syndrome ISO RGD:737511 D RGD:9068941 20220825 MouseDO OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861 11872774 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:1184 nephrotic syndrome treatment ISO RGD:620460 D RGD:9068941 20200609 RGD PMID:15942045|REF_RGD_ID:1598707 11872774 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:732787 D RGD:9068941 20210820 RGD protein:decreased expression:kidney,renal glomerulus (human) PMID:30900988|REF_RGD_ID:15023481 11872774 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:1312 focal segmental glomerulosclerosis disease_progression ISO RGD:732787 D RGD:9068941 20200903 RGD mRNA:increased expression:urine (human) PMID:21414970|REF_RGD_ID:38549367 11872774 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:576 proteinuria ISO RGD:737511 D RGD:9068941 20200609 RGD PMID:12039968|REF_RGD_ID:737765 11872774 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:783 end stage renal disease disease_progression ISO RGD:620460 D RGD:9068941 20200910 RGD mRNA;increased expression:urine (rat) PMID:19389856|REF_RGD_ID:38599006 11872774 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:784 chronic kidney disease severity ISO RGD:732787 D RGD:9068941 20200903 RGD mRNA:increased expression:urine (human) PMID:30133147|REF_RGD_ID:38549368 11872774 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:784 chronic kidney disease treatment ISO RGD:732787 D RGD:9068941 20221103 RGD human cells in rat model PMID:33298161|REF_RGD_ID:155631310 11872774 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:9002165 Diabetic Nephropathies ISO RGD:737511 D RGD:9068941 20200910 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expression:kidney (mouse) PMID:21617141|REF_RGD_ID:7241083 11872774 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:620460 D RGD:9068941 20200903 RGD associated with Diabetes Mellitus, Experimental PMID:17624267|REF_RGD_ID:38596322 11872774 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:737511 D RGD:9068941 20200903 RGD PMID:30862474|REF_RGD_ID:38596325 11872774 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:737511 D RGD:9068941 20200910 RGD associated with Diabetes Mellitus, Experimental PMID:24173355|REF_RGD_ID:38599008 11872774 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:9004797 Fetal Nutrition Disorders ISO RGD:620460 D RGD:9068941 20230202 RGD associated with maternal low protein diet; protein:decreased expression:kidney (rat) PMID:23977013|REF_RGD_ID:155882570 11872774 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:9006832 Puromycin Aminonucleoside Nephrosis ISO RGD:620460 D RGD:9068941 20200911 RGD mRNA, protein:altered expression:glomerulus (rat) PMID:21876538|REF_RGD_ID:38599163 11872774 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:9008782 AIDS-Associated Nephropathy treatment ISO RGD:737511 D RGD:9068941 20200911 RGD PMID:17229913|PMID:19188342|REF_RGD_ID:38596324|REF_RGD_ID:38599164 11872806 MUSK muscle associated receptor tyrosine kinase gene DOID:0110670 congenital myasthenic syndrome 9 ISO RGD:731781 D RGD:7240710 20180130 OMIM 11872806 MUSK muscle associated receptor tyrosine kinase gene DOID:0110670 congenital myasthenic syndrome 9 ISO RGD:731781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 9 PMID:15184594|PMID:15496425|PMID:18414213|PMID:19949040|PMID:20371544|PMID:23326516|PMID:24122059|PMID:25262156|PMID:25741868|PMID:25900532|PMID:26467025|PMID:28492532|PMID:29663639|PMID:30429133|PMID:30719842|PMID:32253145 11872806 MUSK muscle associated receptor tyrosine kinase gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:731781 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C PMID:25741868|PMID:28492532 11872806 MUSK muscle associated receptor tyrosine kinase gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:731781 D RGD:7240710 20180130 OMIM 11872806 MUSK muscle associated receptor tyrosine kinase gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:731781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:15184594|PMID:15496425|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20371544|PMID:23326516|PMID:24122059|PMID:24183479|PMID:25262156|PMID:25537362|PMID:25612909|PMID:25640679|PMID:25695962|PMID:25741868|PMID:25900532|PMID:26467025|PMID:28492532|PMID:28518170|PMID:29663639|PMID:30429133|PMID:30719842|PMID:31750350|PMID:31974414|PMID:32253145|PMID:32732226|PMID:8653786|PMID:9536098 11872806 MUSK muscle associated receptor tyrosine kinase gene DOID:11162 respiratory failure ISO RGD:731781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Respiratory insufficiency PMID:25537362|PMID:25741868|PMID:28492532|PMID:31974414 11872806 MUSK muscle associated receptor tyrosine kinase gene DOID:3635 congenital myasthenic syndrome ISO RGD:731781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive PMID:28492532 11872806 MUSK muscle associated receptor tyrosine kinase gene DOID:437 myasthenia gravis ISO RGD:731781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22981737|PMID:27119269 11872806 MUSK muscle associated receptor tyrosine kinase gene DOID:437 myasthenia gravis severity ISO RGD:731781 D RGD:9068941 20200911 RGD protein:increased expression:serum (human) PMID:26025053|REF_RGD_ID:38599165 11872806 MUSK muscle associated receptor tyrosine kinase gene DOID:437 myasthenia gravis treatment ISO RGD:731781 D RGD:9068941 20200911 RGD PMID:22218276|REF_RGD_ID:38599166 11872806 MUSK muscle associated receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:731781 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 11872806 MUSK muscle associated receptor tyrosine kinase gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:3211 D RGD:9068941 20200609 RGD PMID:17081697|REF_RGD_ID:2317084 11872806 MUSK muscle associated receptor tyrosine kinase gene DOID:9008585 Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency ISO RGD:731781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11872828 JAM3 junctional adhesion molecule 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1346212 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11872828 JAM3 junctional adhesion molecule 3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1346212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11872828 JAM3 junctional adhesion molecule 3 gene DOID:11446 sciatic neuropathy ISO RGD:1303248 D RGD:9068941 20200609 RGD PMID:22950044|REF_RGD_ID:7488944 11872828 JAM3 junctional adhesion molecule 3 gene DOID:3042 allergic contact dermatitis ISO RGD:1551450 D RGD:9068941 20200609 RGD PMID:16297198|REF_RGD_ID:7488919 11872828 JAM3 junctional adhesion molecule 3 gene DOID:418 systemic scleroderma ISO RGD:1346212 D RGD:9068941 20200609 RGD protein:decreased expression:skin, endothelial cell PMID:19439502|REF_RGD_ID:7488937 11872828 JAM3 junctional adhesion molecule 3 gene DOID:418 systemic scleroderma ISO RGD:1346212 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:23001478|REF_RGD_ID:7488920 11872828 JAM3 junctional adhesion molecule 3 gene DOID:5419 schizophrenia ISO RGD:1346212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11872828 JAM3 junctional adhesion molecule 3 gene DOID:630 genetic disease ISO RGD:1346212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11872828 JAM3 junctional adhesion molecule 3 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:1551450 D RGD:9068941 20200609 RGD PMID:22323465|REF_RGD_ID:7488935 11872828 JAM3 junctional adhesion molecule 3 gene DOID:9002502 Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts ISO RGD:1346212 D RGD:7240710 20180130 OMIM 11872828 JAM3 junctional adhesion molecule 3 gene DOID:9002502 Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts ISO RGD:1346212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts PMID:21109224|PMID:23255084|PMID:25741868|PMID:25741869|PMID:28492532|PMID:32860008 11872828 JAM3 junctional adhesion molecule 3 gene DOID:9003690 Carcinoma, Lewis Lung ISO RGD:1551450 D RGD:9068941 20200609 RGD PMID:15994945|REF_RGD_ID:7488936 11872828 JAM3 junctional adhesion molecule 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1346212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11872828 JAM3 junctional adhesion molecule 3 gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1346212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:16857760|PMID:21109224|PMID:23255084|PMID:28492532 11872828 JAM3 junctional adhesion molecule 3 gene DOID:9007748 Retinal Neovascularization ISO RGD:1551450 D RGD:9068941 20200609 RGD PMID:15994945|REF_RGD_ID:7488936 11872841 FBXO46 F-box protein 46 gene DOID:630 genetic disease ISO RGD:1318136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11872847 CFAP418 cilia and flagella associated protein 418 gene DOID:0050572 cone-rod dystrophy ISO RGD:1606135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive 11872847 CFAP418 cilia and flagella associated protein 418 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1606135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant PMID:24442880|PMID:28492532 11872847 CFAP418 cilia and flagella associated protein 418 gene DOID:0081010 Bardet-Biedl syndrome 21 ISO RGD:1606135 D RGD:7240710 20190315 OMIM 11872847 CFAP418 cilia and flagella associated protein 418 gene DOID:0081010 Bardet-Biedl syndrome 21 ISO RGD:1606135 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Bardet-biedl syndrome 21 PMID:22177090|PMID:25515582|PMID:25741868|PMID:26355662|PMID:26854863|PMID:27008867|PMID:28492532|PMID:29127258|PMID:30029497|PMID:31456290 11872847 CFAP418 cilia and flagella associated protein 418 gene DOID:0111022 cone-rod dystrophy 16 ISO RGD:1606135 D RGD:7240710 20180130 OMIM 11872847 CFAP418 cilia and flagella associated protein 418 gene DOID:0111022 cone-rod dystrophy 16 ISO RGD:1606135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 16 | ClinVar Annotator: match by term: Retinitis pigmentosa 64 PMID:22177090|PMID:25515582|PMID:25741868|PMID:25802487|PMID:26355662|PMID:26854863|PMID:26865426|PMID:27008867|PMID:28492532|PMID:29843741|PMID:30029497|PMID:31456290 11872847 CFAP418 cilia and flagella associated protein 418 gene DOID:10584 retinitis pigmentosa ISO RGD:1606135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:22177090|PMID:25741868|PMID:26355662|PMID:26854863|PMID:27008867|PMID:28492532 11872847 CFAP418 cilia and flagella associated protein 418 gene DOID:10584 retinitis pigmentosa ISO RGD:1606135 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:22177090|PMID:25515582|PMID:25741868|PMID:26355662|PMID:26854863|PMID:27008867|PMID:28492532|PMID:30029497|PMID:31456290 11872847 CFAP418 cilia and flagella associated protein 418 gene DOID:10584 retinitis pigmentosa ISO RGD:1606135 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:22177090|PMID:25515582|PMID:25741868|PMID:25802487|PMID:26355662|PMID:26854863|PMID:26865426|PMID:27008867|PMID:28492532|PMID:30029497|PMID:31456290 11872847 CFAP418 cilia and flagella associated protein 418 gene DOID:8501 fundus dystrophy ISO RGD:1606135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 11872857 PBDC1 polysaccharide biosynthesis domain containing 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11872857 PBDC1 polysaccharide biosynthesis domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1344013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11872857 PBDC1 polysaccharide biosynthesis domain containing 1 gene DOID:630 genetic disease ISO RGD:1344013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11872872 LHPP phospholysine phosphohistidine inorganic pyrophosphate phosphatase gene DOID:630 genetic disease ISO RGD:1606248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11872896 STK11 serine/threonine kinase 11 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1318548 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli PMID:25186627|PMID:25741868|PMID:26010451|PMID:26467025|PMID:26898890|PMID:28135145|PMID:28492532|PMID:30287823|PMID:31159747|PMID:32068069|PMID:33471991 11872896 STK11 serine/threonine kinase 11 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1318548 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 11872896 STK11 serine/threonine kinase 11 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318548 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:25741868 11872896 STK11 serine/threonine kinase 11 gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1318548 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:25741868|PMID:26467025|PMID:28135145|PMID:28492532|PMID:33471991 11872896 STK11 serine/threonine kinase 11 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified PMID:25741868|PMID:26080840|PMID:26295973|PMID:28492532 11872896 STK11 serine/threonine kinase 11 gene DOID:10534 stomach cancer ISO RGD:1318548 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:30287823|PMID:32980694|PMID:36988593 11872896 STK11 serine/threonine kinase 11 gene DOID:10763 hypertension ISO RGD:1318548 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19289642 11872896 STK11 serine/threonine kinase 11 gene DOID:1319 brain cancer ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brain cancer PMID:25741868|PMID:28492532 11872896 STK11 serine/threonine kinase 11 gene DOID:1324 lung cancer ISO RGD:1318548 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 11872896 STK11 serine/threonine kinase 11 gene DOID:1380 endometrial cancer ISO RGD:1318548 D RGD:9068941 20200609 RGD PMID:18245476|REF_RGD_ID:2291944 11872896 STK11 serine/threonine kinase 11 gene DOID:1380 endometrial cancer ISO RGD:1318549 D RGD:9068941 20200609 RGD PMID:18245476|REF_RGD_ID:2291944 11872896 STK11 serine/threonine kinase 11 gene DOID:1380 endometrial cancer ISO RGD:1318549 D RGD:9068941 20220825 MouseDO OMIM:608089 11872896 STK11 serine/threonine kinase 11 gene DOID:14566 disease of cellular proliferation ISO RGD:1318548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:10208439|PMID:10408777|PMID:10429654|PMID:10676634|PMID:11668633|PMID:12865922|PMID:15188174|PMID:15863673|PMID:16287113|PMID:16582077|PMID:16707622|PMID:17026623|PMID:17676035|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20435009|PMID:21191700|PMID:23399955|PMID:23555315|PMID:23639312|PMID:23718779|PMID:24857785|PMID:24998845|PMID:25157968|PMID:25226294|PMID:25343854|PMID:25741868|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:27081308|PMID:28152038|PMID:28492532|PMID:28977883|PMID:30287823|PMID:30528796|PMID:31159747|PMID:32566746|PMID:9731485 11872896 STK11 serine/threonine kinase 11 gene DOID:1520 colon carcinoma ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:14623934|PMID:15121768|PMID:25186949|PMID:25741868|PMID:26467025|PMID:28492532 11872896 STK11 serine/threonine kinase 11 gene DOID:1612 breast cancer ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10429655|PMID:12533684|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17576681|PMID:17711506|PMID:20082862|PMID:20393878|PMID:20722467|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24728327|PMID:24793789|PMID:24830819|PMID:25142776|PMID:25179843|PMID:25186627|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28577310|PMID:28821472|PMID:28873162|PMID:30287823|PMID:9536098 11872896 STK11 serine/threonine kinase 11 gene DOID:1612 breast cancer ISO RGD:1318548 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10429655|PMID:12533684|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:20082862|PMID:20393878|PMID:20722467|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24728327|PMID:24793789|PMID:24830819|PMID:25142776|PMID:25179843|PMID:25186627|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28577310|PMID:28821472|PMID:28873162|PMID:30287823 11872896 STK11 serine/threonine kinase 11 gene DOID:1612 breast cancer ISO RGD:1318548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10429655|PMID:12533684|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:20082862|PMID:20393878|PMID:20722467|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24728327|PMID:24793789|PMID:24830819|PMID:25142776|PMID:25179843|PMID:25186627|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28577310|PMID:28821472|PMID:28873162|PMID:30287823|PMID:30426508|PMID:30833958|PMID:33471991 11872896 STK11 serine/threonine kinase 11 gene DOID:1749 squamous cell carcinoma ISO RGD:1318548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 11872896 STK11 serine/threonine kinase 11 gene DOID:1793 pancreatic cancer ISO RGD:1318548 D RGD:7240710 20180130 OMIM 11872896 STK11 serine/threonine kinase 11 gene DOID:1909 melanoma ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Melanoma PMID:10201537|PMID:10208439|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24830819|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28821472|PMID:28873162|PMID:29458332 11872896 STK11 serine/threonine kinase 11 gene DOID:1909 melanoma ISO RGD:1318548 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Melanoma PMID:10208439|PMID:27467201|PMID:32647375 11872896 STK11 serine/threonine kinase 11 gene DOID:219 colon cancer ISO RGD:1318548 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:25741868|PMID:28492532 11872896 STK11 serine/threonine kinase 11 gene DOID:2394 ovarian cancer ISO RGD:1318548 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:10429654|PMID:10676634|PMID:17711506|PMID:18594528|PMID:19892943|PMID:21191700|PMID:23555315|PMID:24857785|PMID:25157968|PMID:25343854|PMID:25741868|PMID:26164066|PMID:26319365|PMID:26467025|PMID:26692440|PMID:26837502|PMID:27153395|PMID:27311873|PMID:27978560|PMID:28492532|PMID:28977883|PMID:30093976|PMID:30287823|PMID:31775759|PMID:32566746|PMID:32720237|PMID:33471991|PMID:34011629 11872896 STK11 serine/threonine kinase 11 gene DOID:2871 endometrial carcinoma ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:25741868|PMID:26467025|PMID:28492532 11872896 STK11 serine/threonine kinase 11 gene DOID:299 adenocarcinoma ISO RGD:1318548 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17676035 11872896 STK11 serine/threonine kinase 11 gene DOID:2998 testicular cancer ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of testis PMID:9605748|PMID:9887330 11872896 STK11 serine/threonine kinase 11 gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma PMID:25741868|PMID:28492532 11872896 STK11 serine/threonine kinase 11 gene DOID:3459 breast carcinoma ISO RGD:1318548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:16287113|PMID:17676035|PMID:24033266|PMID:25186627|PMID:25452441|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:28492532|PMID:28873162|PMID:29785153|PMID:30092773|PMID:30287823|PMID:30426508|PMID:31159747|PMID:33309985|PMID:34849607 11872896 STK11 serine/threonine kinase 11 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1318548 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26887594 11872896 STK11 serine/threonine kinase 11 gene DOID:3701 cervical mucinous adenocarcinoma disease_progression ISO RGD:1318548 D RGD:9068941 20200609 RGD DNA:mutations PMID:12533684|REF_RGD_ID:2291947 11872896 STK11 serine/threonine kinase 11 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1318548 D RGD:7240710 20180130 OMIM 11872896 STK11 serine/threonine kinase 11 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1318548 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:10208439|PMID:10217080|PMID:10353780|PMID:10362809|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11103790|PMID:11297520|PMID:11389158|PMID:11430832|PMID:11668633|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12829253|PMID:12865922|PMID:14623934|PMID:14970844|PMID:15121768|PMID:15188174|PMID:15200509|PMID:15399020|PMID:15561763|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16648371|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18594528|PMID:18687677|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19250387|PMID:19340305|PMID:19727776|PMID:19763152|PMID:19892943|PMID:20082862|PMID:20223037|PMID:20307669|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20616022|PMID:20623358|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:21411391|PMID:21816872|PMID:22382802|PMID:22406018|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22775437|PMID:22942091|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23426006|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24054548|PMID:24260271|PMID:24304607|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24949325|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25326637|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25841653|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26625312|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27550049|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27721366|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28231849|PMID:28303455|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30334930|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31217475|PMID:31269945|PMID:31422818|PMID:31465090|PMID:31515776|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32566746|PMID:32573125|PMID:32658311|PMID:32720237|PMID:32957588|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34284872|PMID:34849607|PMID:35467778|PMID:837816|PMID:9399902|PMID:9425897|PMID:9428765|PMID:9536098|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9934767 11872896 STK11 serine/threonine kinase 11 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:15800014|PMID:17676035|PMID:25741868|PMID:28492532 11872896 STK11 serine/threonine kinase 11 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1318548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:15800014|PMID:17676035|PMID:19892943|PMID:25741868|PMID:28492532 11872896 STK11 serine/threonine kinase 11 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:25157968 11872896 STK11 serine/threonine kinase 11 gene DOID:3910 lung adenocarcinoma ISO RGD:1318548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:10408777|PMID:12865922|PMID:15863673|PMID:16287113|PMID:16582077|PMID:17026623|PMID:17676035|PMID:19892943|PMID:20393878|PMID:20435009|PMID:23399955|PMID:23718779|PMID:25157968|PMID:25226294|PMID:25741868|PMID:26056085|PMID:26467025|PMID:27081308|PMID:27993330|PMID:28152038|PMID:28492532|PMID:30528796|PMID:31159747 11872896 STK11 serine/threonine kinase 11 gene DOID:4001 ovarian carcinoma susceptibility ISO RGD:1318548 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity, missense mutation:p.P281L PMID:10429654|REF_RGD_ID:2298556 11872896 STK11 serine/threonine kinase 11 gene DOID:4606 bile duct cancer ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bile duct cancer PMID:25741868|PMID:28492532 11872896 STK11 serine/threonine kinase 11 gene DOID:4905 pancreatic carcinoma ISO RGD:1318548 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:10362809|PMID:11430832|PMID:15188174|PMID:15800014|PMID:16287113|PMID:19340305|PMID:20393878|PMID:23399955|PMID:23555315|PMID:23893923|PMID:24033266|PMID:24307375|PMID:24652667|PMID:24728327|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26056085|PMID:26467025|PMID:27615706|PMID:28135145|PMID:28492532|PMID:29748005|PMID:30287823|PMID:30374176|PMID:30982232|PMID:31159747|PMID:32068069|PMID:32566746|PMID:33471991 11872896 STK11 serine/threonine kinase 11 gene DOID:5339 cyclic hematopoiesis ISO RGD:1318548 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11872896 STK11 serine/threonine kinase 11 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:25741868|PMID:26467025|PMID:28492532|PMID:31775759 11872896 STK11 serine/threonine kinase 11 gene DOID:5557 testicular germ cell cancer ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis 11872896 STK11 serine/threonine kinase 11 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:24033266|PMID:24307375|PMID:24728327|PMID:24857785|PMID:25157968|PMID:25343854|PMID:25741868|PMID:26010451|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:28135145|PMID:28492532|PMID:28577310|PMID:28873162|PMID:28977883|PMID:30287823|PMID:30982232|PMID:32566746 11872896 STK11 serine/threonine kinase 11 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24307375|PMID:24468202|PMID:24728327|PMID:24830819|PMID:24857785|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25343854|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28577310|PMID:28821472|PMID:28873162|PMID:28977883|PMID:29338689|PMID:29748005|PMID:30287823|PMID:30426508|PMID:30982232|PMID:31269945|PMID:32566746|PMID:33471991 11872896 STK11 serine/threonine kinase 11 gene DOID:6225 Cronkhite-Canada syndrome ISO RGD:1318548 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intestinal polyposis PMID:25741868|PMID:28492532|PMID:30287823 11872896 STK11 serine/threonine kinase 11 gene DOID:630 genetic disease ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10441497|PMID:12552571|PMID:12865922|PMID:15121768|PMID:15863673|PMID:16287113|PMID:16582077|PMID:17404884|PMID:19727776|PMID:23415580|PMID:25741868|PMID:28492532|PMID:9809980 11872896 STK11 serine/threonine kinase 11 gene DOID:687 hepatoblastoma ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:28492532 11872896 STK11 serine/threonine kinase 11 gene DOID:7998 hyperthyroidism ISO RGD:1308653 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:muscle: PMID:18669938|REF_RGD_ID:10059691 11872896 STK11 serine/threonine kinase 11 gene DOID:8634 prostate carcinoma in situ ISO RGD:1318549 D RGD:9068941 20200609 RGD PMID:18381428|REF_RGD_ID:2291943 11872896 STK11 serine/threonine kinase 11 gene DOID:8923 skin melanoma ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY PMID:10201537|PMID:10208439|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24830819|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28821472|PMID:28873162|PMID:29458332 11872896 STK11 serine/threonine kinase 11 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1318548 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:decreased expression PMID:12114407|REF_RGD_ID:2291948 11872896 STK11 serine/threonine kinase 11 gene DOID:9000881 Cutaneous Malignant Melanoma, Susceptibility To, 1 ISO RGD:1318548 D RGD:7240710 20210303 OMIM 11872896 STK11 serine/threonine kinase 11 gene DOID:9000881 Cutaneous Malignant Melanoma, Susceptibility To, 1 ISO RGD:1318548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 PMID:10201537|PMID:10208439|PMID:11668633|PMID:15188174|PMID:16287113|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24830819|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27467201|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28726808|PMID:28821472|PMID:28873162|PMID:29458332|PMID:30287823|PMID:32647375 11872896 STK11 serine/threonine kinase 11 gene DOID:9003100 Pancreatic Neoplasms ISO RGD:1318548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pancreatic neoplasm PMID:10408777|PMID:12865922|PMID:16287113|PMID:16582077|PMID:17026623|PMID:20435009|PMID:21189378|PMID:23399955|PMID:23718779|PMID:25226294|PMID:28492532 11872896 STK11 serine/threonine kinase 11 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1318548 D RGD:7240710 20180130 OMIM 11872896 STK11 serine/threonine kinase 11 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis 11872896 STK11 serine/threonine kinase 11 gene DOID:9003936 Cardiomegaly ISO RGD:1318549 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:17098823|REF_RGD_ID:1601391 11872896 STK11 serine/threonine kinase 11 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1318548 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19289642 11872896 STK11 serine/threonine kinase 11 gene DOID:9005172 Lung Neoplasms ISO RGD:1318548 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17676035 11872896 STK11 serine/threonine kinase 11 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:28492532 11872896 STK11 serine/threonine kinase 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318548 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17404884|PMID:17576681|PMID:17676035|PMID:17711506|PMID:18321849|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27043212|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28640387|PMID:28724667|PMID:28767289|PMID:28821472|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29641532|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30455982|PMID:30528796|PMID:30669267|PMID:30982232|PMID:31159747|PMID:31269945|PMID:31422818|PMID:31465090|PMID:31592449|PMID:31712642|PMID:31775759|PMID:31871109|PMID:32068069|PMID:32566746|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348 11872896 STK11 serine/threonine kinase 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30455982|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31217475|PMID:31269945|PMID:31422818|PMID:31465090|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32957588|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34849607|PMID:35467778|PMID:9399902|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767 11872896 STK11 serine/threonine kinase 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318548 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25326637|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31217475|PMID:31269945|PMID:31422818|PMID:31465090|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34284872|PMID:34849607|PMID:35467778|PMID:36988593|PMID:9399902|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767 11872896 STK11 serine/threonine kinase 11 gene DOID:9007502 Brain Neoplasms ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant brain neoplasm PMID:25741868|PMID:28492532 11872896 STK11 serine/threonine kinase 11 gene DOID:9007692 Insulin Resistance ISO RGD:1308653 D RGD:9068941 20200609 RGD associated with obesity;protein:decreased expression:gastrocnemius PMID:16352671|REF_RGD_ID:1601389 11872896 STK11 serine/threonine kinase 11 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1318548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11872896 STK11 serine/threonine kinase 11 gene DOID:9970 obesity ISO RGD:1308653 D RGD:9068941 20200609 RGD protein:decreased expression:gastrocnemius PMID:16352671|REF_RGD_ID:1601389 11872917 IL10 interleukin 10 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23962110 11872917 IL10 interleukin 10 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:8704212|REF_RGD_ID:11049460 11872917 IL10 interleukin 10 gene DOID:0050589 inflammatory bowel disease ISO RGD:735591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:11121048|PMID:14657422|PMID:14657427|PMID:17576681|PMID:25741868|PMID:26193622|PMID:28492532|PMID:30290665|PMID:9536098 11872917 IL10 interleukin 10 gene DOID:0050589 inflammatory bowel disease no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP: :rs1800896 (human) PMID:27468578|REF_RGD_ID:11534627 11872917 IL10 interleukin 10 gene DOID:0050589 inflammatory bowel disease treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:31062617|REF_RGD_ID:14975125 11872917 IL10 interleukin 10 gene DOID:0050827 rheumatic heart disease no_association ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16043936|REF_RGD_ID:1598626 11872917 IL10 interleukin 10 gene DOID:0050848 obstructive sleep apnea ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:22143914|REF_RGD_ID:11049492 11872917 IL10 interleukin 10 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:17338814|REF_RGD_ID:8662972 11872917 IL10 interleukin 10 gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592A>C (human) PMID:28157558|REF_RGD_ID:14975130 11872917 IL10 interleukin 10 gene DOID:0060180 colitis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:22461024|REF_RGD_ID:7771532 11872917 IL10 interleukin 10 gene DOID:0060180 colitis ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:21949848|REF_RGD_ID:7349385 11872917 IL10 interleukin 10 gene DOID:0060180 colitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19238344|PMID:21807089|PMID:22119709|PMID:24314293 11872917 IL10 interleukin 10 gene DOID:0060180 colitis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23771723|REF_RGD_ID:7365024 11872917 IL10 interleukin 10 gene DOID:0060189 ileitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27580383 11872917 IL10 interleukin 10 gene DOID:0060496 respiratory allergy ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:20583974|REF_RGD_ID:4140460 11872917 IL10 interleukin 10 gene DOID:0060500 drug allergy ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19222424|PMID:20485159 11872917 IL10 interleukin 10 gene DOID:0060901 lymphoplasmacytic lymphoma ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:19573080|REF_RGD_ID:11049165 11872917 IL10 interleukin 10 gene DOID:0060903 thrombosis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:12765335|REF_RGD_ID:1598469 11872917 IL10 interleukin 10 gene DOID:0070344 ocular tuberculosis ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor PMID:22583692|REF_RGD_ID:7364832 11872917 IL10 interleukin 10 gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:22467659|REF_RGD_ID:7364834 11872917 IL10 interleukin 10 gene DOID:0080160 cytomegalovirus retinitis ISO RGD:10785 D RGD:9068941 20200609 RGD associated with Murine Acquired Immunodeficiency Syndrome PMID:23415673|REF_RGD_ID:7364815 11872917 IL10 interleukin 10 gene DOID:0080178 mucositis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20881642 11872917 IL10 interleukin 10 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:735591 D RGD:9068941 20200609 RGD associated with morbid obesity PMID:25894568|REF_RGD_ID:14975151 11872917 IL10 interleukin 10 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082A>G (rs1800896) (human) PMID:28852433|REF_RGD_ID:14975143 11872917 IL10 interleukin 10 gene DOID:0080599 Coronavirus infectious disease ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:28493345|REF_RGD_ID:14975163 11872917 IL10 interleukin 10 gene DOID:0080600 COVID-19 ISO RGD:735591 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11872917 IL10 interleukin 10 gene DOID:0080600 COVID-19 ISO RGD:735591 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 11872917 IL10 interleukin 10 gene DOID:0080600 COVID-19 ISO RGD:735591 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:31986264|PMID:32161940 11872917 IL10 interleukin 10 gene DOID:0080600 COVID-19 severity ISO RGD:735591 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 11872917 IL10 interleukin 10 gene DOID:0080600 COVID-19 severity ISO RGD:735591 D RGD:9068941 20200625 RGD associated with cardiovascular system disease;protein:increased expression:blood (human) PMID:32456948|REF_RGD_ID:30309957 11872917 IL10 interleukin 10 gene DOID:0080600 COVID-19 severity ISO RGD:735591 D RGD:9068941 20200625 RGD protein:increased expression:serum (human) PMID:32365221|REF_RGD_ID:30310229 11872917 IL10 interleukin 10 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:10785 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 11872917 IL10 interleukin 10 gene DOID:0081120 Graves ophthalmopathy ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-819C>T (human) PMID:21067483|REF_RGD_ID:7364859 11872917 IL10 interleukin 10 gene DOID:0081120 Graves ophthalmopathy ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11753760|REF_RGD_ID:7365083 11872917 IL10 interleukin 10 gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:735591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 11872917 IL10 interleukin 10 gene DOID:0081267 graft-versus-host disease ISO RGD:735591 D RGD:7240710 20230517 OMIM 11872917 IL10 interleukin 10 gene DOID:0081267 graft-versus-host disease ISO RGD:735591 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Graft-versus-host disease, resistance to | ClinVar Annotator: match by term: Graft-versus-host disease, susceptibility to PMID:11121048|PMID:14657422|PMID:14657427|PMID:25741868|PMID:28492532 11872917 IL10 interleukin 10 gene DOID:0081267 graft-versus-host disease disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP: :rs1800872 (human) PMID:19409109|REF_RGD_ID:11046269 11872917 IL10 interleukin 10 gene DOID:0081267 graft-versus-host disease no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:20195716|REF_RGD_ID:11049177 11872917 IL10 interleukin 10 gene DOID:0081267 graft-versus-host disease severity ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:repeat:promoter PMID:9808588|REF_RGD_ID:2316565 11872917 IL10 interleukin 10 gene DOID:0081267 graft-versus-host disease treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:25034146|REF_RGD_ID:11041897 11872917 IL10 interleukin 10 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:735591 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11872917 IL10 interleukin 10 gene DOID:10140 dry eye syndrome ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Sjogren's Syndrome;protein:increased expression:tear PMID:23752063|REF_RGD_ID:7364807 11872917 IL10 interleukin 10 gene DOID:1024 leprosy ISO RGD:735591 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 PMID:28492532 11872917 IL10 interleukin 10 gene DOID:10247 pleurisy ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181422 11872917 IL10 interleukin 10 gene DOID:104 bacterial infectious disease ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Otitis Media PMID:22668804|REF_RGD_ID:7364828 11872917 IL10 interleukin 10 gene DOID:10459 common cold ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:20696083|REF_RGD_ID:4140458 11872917 IL10 interleukin 10 gene DOID:10533 viral pneumonia treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:25219125|REF_RGD_ID:10450576 11872917 IL10 interleukin 10 gene DOID:10534 stomach cancer ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:30610790|REF_RGD_ID:14975253 11872917 IL10 interleukin 10 gene DOID:10534 stomach cancer ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-819C>T (rs1800871) (human) PMID:28002581|REF_RGD_ID:14975135 11872917 IL10 interleukin 10 gene DOID:10608 celiac disease ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:27545437|REF_RGD_ID:14975156 11872917 IL10 interleukin 10 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:735591 D RGD:9068941 20200806 RGD DNA:SNPs,haplotype: -1082G>A, -819T>C, -592C>A (human) PMID:14746878|REF_RGD_ID:1358665 11872917 IL10 interleukin 10 gene DOID:10652 Alzheimer's disease treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:21803105|REF_RGD_ID:7364841 11872917 IL10 interleukin 10 gene DOID:1067 open-angle glaucoma ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:23788371|REF_RGD_ID:7364852 11872917 IL10 interleukin 10 gene DOID:10754 otitis media ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:18771082|REF_RGD_ID:7365029 11872917 IL10 interleukin 10 gene DOID:10754 otitis media ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Haemophilus Infections PMID:18524391|REF_RGD_ID:4891398 11872917 IL10 interleukin 10 gene DOID:10754 otitis media ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Pneumococcal Infections;mRNA:increased expression:middle ear PMID:14500471|REF_RGD_ID:7365082 11872917 IL10 interleukin 10 gene DOID:10754 otitis media ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Pneumococcal Infections;protein:increased expression:middle ear, serum PMID:23404508|REF_RGD_ID:7364816 11872917 IL10 interleukin 10 gene DOID:10754 otitis media ISO RGD:735591 D RGD:9068941 20200609 RGD associated with respiratory syncytial virus infectious disease, associated with common cold;DNA:SNPs, haplotypes:promoter:-1082G>A, -819T>C, -592A>C (human) PMID:18560870|REF_RGD_ID:7365038 11872917 IL10 interleukin 10 gene DOID:10754 otitis media susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082G>A (human) PMID:17908769|REF_RGD_ID:7365054 11872917 IL10 interleukin 10 gene DOID:10763 hypertension ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:19398662|REF_RGD_ID:2311047 11872917 IL10 interleukin 10 gene DOID:10923 sickle cell anemia treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:24281564|REF_RGD_ID:11046271 11872917 IL10 interleukin 10 gene DOID:11168 anogenital venereal wart ISO RGD:735591 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 11872917 IL10 interleukin 10 gene DOID:11204 allergic conjunctivitis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:19060266|REF_RGD_ID:7365027 11872917 IL10 interleukin 10 gene DOID:11204 allergic conjunctivitis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:22092652|REF_RGD_ID:7364837 11872917 IL10 interleukin 10 gene DOID:11204 allergic conjunctivitis ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:tear PMID:15144463|REF_RGD_ID:7365076 11872917 IL10 interleukin 10 gene DOID:11204 allergic conjunctivitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:16914468|REF_RGD_ID:11041889 11872917 IL10 interleukin 10 gene DOID:11247 disseminated intravascular coagulation ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16613997|REF_RGD_ID:11049462 11872917 IL10 interleukin 10 gene DOID:11265 trachoma ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:−1082G>A (human) PMID:11023480|REF_RGD_ID:7365085 11872917 IL10 interleukin 10 gene DOID:11265 trachoma ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:tear PMID:18628987|REF_RGD_ID:7365037 11872917 IL10 interleukin 10 gene DOID:11265 trachoma no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:−819T>C, −592A>C (human) PMID:11023480|REF_RGD_ID:7365085 11872917 IL10 interleukin 10 gene DOID:11265 trachoma severity ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:promoter:−1082G>A (human) PMID:15789056|REF_RGD_ID:7365072 11872917 IL10 interleukin 10 gene DOID:11265 trachoma severity ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:haplotype: : PMID:17947295|REF_RGD_ID:7365053 11872917 IL10 interleukin 10 gene DOID:11394 adult respiratory distress syndrome treatment ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Sepsis PMID:22037734|REF_RGD_ID:11049486 11872917 IL10 interleukin 10 gene DOID:11446 sciatic neuropathy treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:22173123|REF_RGD_ID:7364836 11872917 IL10 interleukin 10 gene DOID:11446 sciatic neuropathy treatment ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Constriction, Pathologic PMID:22889616|REF_RGD_ID:7364826 11872917 IL10 interleukin 10 gene DOID:11714 gestational diabetes ISO RGD:735591 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:18446686|REF_RGD_ID:2308947 11872917 IL10 interleukin 10 gene DOID:118 pericardial effusion severity ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16360340|REF_RGD_ID:1598622 11872917 IL10 interleukin 10 gene DOID:12030 panuveitis ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Multifocal Choroiditis;DNA:SNP:intron: (rs2222202) (human) PMID:21357402|REF_RGD_ID:7364844 11872917 IL10 interleukin 10 gene DOID:12132 granulomatosis with polyangiitis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:11838849|REF_RGD_ID:1580480 11872917 IL10 interleukin 10 gene DOID:12134 factor VIII deficiency treatment ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human) PMID:20082647|REF_RGD_ID:11049183 11872917 IL10 interleukin 10 gene DOID:12236 primary biliary cholangitis ISO RGD:735591 D RGD:9068941 20200820 RGD mRNA:increased expression:liver PMID:17158635|REF_RGD_ID:38501106 11872917 IL10 interleukin 10 gene DOID:12361 Graves' disease ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP: :rs1800896 (human) PMID:21424183|REF_RGD_ID:7364858 11872917 IL10 interleukin 10 gene DOID:12361 Graves' disease ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-1082A>G, -819C>T, -592C>A (human) PMID:19882211|REF_RGD_ID:7364862 11872917 IL10 interleukin 10 gene DOID:12361 Graves' disease ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19250272|REF_RGD_ID:7365026 11872917 IL10 interleukin 10 gene DOID:12361 Graves' disease no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:multiple PMID:15497451|REF_RGD_ID:7365074 11872917 IL10 interleukin 10 gene DOID:12385 shigellosis treatment ISO RGD:10785 D RGD:9068941 20201022 RGD PMID:30615126|REF_RGD_ID:39938959 11872917 IL10 interleukin 10 gene DOID:1273 respiratory syncytial virus infectious disease severity ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:20209309|REF_RGD_ID:4140425 11872917 IL10 interleukin 10 gene DOID:12732 intermediate uveitis ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor PMID:21850175|REF_RGD_ID:7364840 11872917 IL10 interleukin 10 gene DOID:12849 autistic disorder ISO RGD:735591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11872917 IL10 interleukin 10 gene DOID:12894 Sjogren's syndrome ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:12233881|REF_RGD_ID:1580479 11872917 IL10 interleukin 10 gene DOID:12930 dilated cardiomyopathy ISO RGD:2886 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle PMID:19242323|REF_RGD_ID:2311057 11872917 IL10 interleukin 10 gene DOID:13001 carotid stenosis no_association ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16804000|REF_RGD_ID:1598483 11872917 IL10 interleukin 10 gene DOID:13025 retinopathy of prematurity ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor PMID:19700197|REF_RGD_ID:7364863 11872917 IL10 interleukin 10 gene DOID:13141 uveitis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:promoter, :rs2222202, rs3024490, rs6703630 (human) PMID:20335604|REF_RGD_ID:7364845 11872917 IL10 interleukin 10 gene DOID:13141 uveitis ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:10865312|REF_RGD_ID:7365086 11872917 IL10 interleukin 10 gene DOID:13241 Behcet's disease ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20622878|PMID:20622879 11872917 IL10 interleukin 10 gene DOID:13241 Behcet's disease ISO RGD:735591 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, serum PMID:29719061|REF_RGD_ID:14975149 11872917 IL10 interleukin 10 gene DOID:13241 Behcet's disease disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:15980236|REF_RGD_ID:1598628 11872917 IL10 interleukin 10 gene DOID:13241 Behcet's disease onset ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:26654556|REF_RGD_ID:14975256 11872917 IL10 interleukin 10 gene DOID:13241 Behcet's disease susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592A>C (rs1800872) (human) PMID:29294320|REF_RGD_ID:14975131 11872917 IL10 interleukin 10 gene DOID:13241 Behcet's disease treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:21506890|REF_RGD_ID:7364843 11872917 IL10 interleukin 10 gene DOID:13636 Fanconi anemia ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:24021704|REF_RGD_ID:11049161 11872917 IL10 interleukin 10 gene DOID:1380 endometrial cancer ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9119882|REF_RGD_ID:2317659 11872917 IL10 interleukin 10 gene DOID:14115 toxic shock syndrome ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:7593621|REF_RGD_ID:11049456 11872917 IL10 interleukin 10 gene DOID:14115 toxic shock syndrome ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:12117955|REF_RGD_ID:1598471 11872917 IL10 interleukin 10 gene DOID:14115 toxic shock syndrome ISO RGD:735591 D RGD:9068941 20200806 RGD protein:increased expression:plasma PMID:25403265|REF_RGD_ID:38455982 11872917 IL10 interleukin 10 gene DOID:14115 toxic shock syndrome onset ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:12117955|REF_RGD_ID:1598471 11872917 IL10 interleukin 10 gene DOID:14115 toxic shock syndrome severity ISO RGD:10785 D RGD:9068941 20201211 RGD protein:increased expression:lung (mouse) PMID:28659355|REF_RGD_ID:40890272 11872917 IL10 interleukin 10 gene DOID:1417 choroid disease ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs6703630 (human) PMID:21357402|REF_RGD_ID:7364844 11872917 IL10 interleukin 10 gene DOID:1459 hypothyroidism ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:24534949|REF_RGD_ID:11049472 11872917 IL10 interleukin 10 gene DOID:1459 hypothyroidism treatment ISO RGD:2886 D RGD:9068941 20200903 RGD PMID:29896255|REF_RGD_ID:38549578 11872917 IL10 interleukin 10 gene DOID:14654 prostatitis ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland, serum PMID:19213347|REF_RGD_ID:2311058 11872917 IL10 interleukin 10 gene DOID:14654 prostatitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12050565 11872917 IL10 interleukin 10 gene DOID:1470 major depressive disorder ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNPs, haplotype:promoter:-592C>A, -���819C>T, -1082G>A (human) PMID:30734130|REF_RGD_ID:14975122 11872917 IL10 interleukin 10 gene DOID:1474 aggressive periodontitis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592C>A (rs1800872) (human) PMID:28662328|REF_RGD_ID:14975139 11872917 IL10 interleukin 10 gene DOID:1474 aggressive periodontitis ISO RGD:735591 D RGD:9068941 20200609 RGD protien:decreased expression:plasma PMID:28868949|REF_RGD_ID:14975264 11872917 IL10 interleukin 10 gene DOID:1540 parathyroid carcinoma ISO RGD:735591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11872917 IL10 interleukin 10 gene DOID:1580 diffuse scleroderma ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9034992|REF_RGD_ID:5684371 11872917 IL10 interleukin 10 gene DOID:1588 thrombocytopenia ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:11091188|REF_RGD_ID:11049172 11872917 IL10 interleukin 10 gene DOID:1588 thrombocytopenia severity ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Malaria, Vivax PMID:25128199|REF_RGD_ID:11041893 11872917 IL10 interleukin 10 gene DOID:1754 mitral valve stenosis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16155388|REF_RGD_ID:1598624 11872917 IL10 interleukin 10 gene DOID:1793 pancreatic cancer ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:30610790|REF_RGD_ID:14975253 11872917 IL10 interleukin 10 gene DOID:1793 pancreatic cancer ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17235586|REF_RGD_ID:2317655 11872917 IL10 interleukin 10 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:30304975|REF_RGD_ID:14975257 11872917 IL10 interleukin 10 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:polymorphism: :-1082G>A (human) PMID:19250218|REF_RGD_ID:2317653 11872917 IL10 interleukin 10 gene DOID:1883 hepatitis C ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:28340949|REF_RGD_ID:14975144 11872917 IL10 interleukin 10 gene DOID:1883 hepatitis C ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19302182|REF_RGD_ID:2308942 11872917 IL10 interleukin 10 gene DOID:1883 hepatitis C no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1800896 (human) PMID:28340949|REF_RGD_ID:14975144 11872917 IL10 interleukin 10 gene DOID:2043 hepatitis B no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-592C>A (rs1800872), -819C>A (rs1800871) (human) PMID:27644568|REF_RGD_ID:14975150 11872917 IL10 interleukin 10 gene DOID:2043 hepatitis B treatment ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP, haplotypes:promoter:-1082G>A (rs1800896) (human) PMID:27644568|REF_RGD_ID:14975150 11872917 IL10 interleukin 10 gene DOID:2048 autoimmune hepatitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 11872917 IL10 interleukin 10 gene DOID:219 colon cancer ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592C>A (rs1800872) (human) PMID:27468578|REF_RGD_ID:11534627 11872917 IL10 interleukin 10 gene DOID:219 colon cancer no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP: :rs1800896 (human) PMID:27468578|REF_RGD_ID:11534627 11872917 IL10 interleukin 10 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:24053818|REF_RGD_ID:7364868 11872917 IL10 interleukin 10 gene DOID:2349 arteriosclerosis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:12765335|REF_RGD_ID:1598469 11872917 IL10 interleukin 10 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16523426|REF_RGD_ID:1598477 11872917 IL10 interleukin 10 gene DOID:2355 anemia severity ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Malaria;protein:decreased expression:plasma PMID:9635949|REF_RGD_ID:11049182 11872917 IL10 interleukin 10 gene DOID:2377 multiple sclerosis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23517930 11872917 IL10 interleukin 10 gene DOID:2394 ovarian cancer ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9166545|REF_RGD_ID:2317660 11872917 IL10 interleukin 10 gene DOID:2841 asthma ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:20237464|PMID:20644177|REF_RGD_ID:4140459|REF_RGD_ID:4140471 11872917 IL10 interleukin 10 gene DOID:2841 asthma ISO RGD:2515 D RGD:9068941 20200609 RGD PMID:20560982|REF_RGD_ID:5131623 11872917 IL10 interleukin 10 gene DOID:2841 asthma ISO RGD:2886 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:20230687|REF_RGD_ID:4140421 11872917 IL10 interleukin 10 gene DOID:2841 asthma ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29317916 11872917 IL10 interleukin 10 gene DOID:2841 asthma ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:20121766|REF_RGD_ID:4140451 11872917 IL10 interleukin 10 gene DOID:2841 asthma susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:polymorphism: :-627C>A (human) PMID:12938145|REF_RGD_ID:4143221 11872917 IL10 interleukin 10 gene DOID:2841 asthma treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:21998459|REF_RGD_ID:11046261 11872917 IL10 interleukin 10 gene DOID:2862 glucosephosphate dehydrogenase deficiency ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592A>C (human) PMID:15718915|REF_RGD_ID:11049178 11872917 IL10 interleukin 10 gene DOID:2862 glucosephosphate dehydrogenase deficiency no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-1082G>A, -819T>C (human) PMID:15718915|REF_RGD_ID:11049178 11872917 IL10 interleukin 10 gene DOID:289 endometriosis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30579999 11872917 IL10 interleukin 10 gene DOID:289 endometriosis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:21665488|REF_RGD_ID:11049494 11872917 IL10 interleukin 10 gene DOID:2913 acute pancreatitis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082G>A (human) PMID:27173345|REF_RGD_ID:14975140 11872917 IL10 interleukin 10 gene DOID:2913 acute pancreatitis no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter: -819T>C (human) PMID:27173345|REF_RGD_ID:14975140 11872917 IL10 interleukin 10 gene DOID:2921 glomerulonephritis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10910440 11872917 IL10 interleukin 10 gene DOID:2945 severe acute respiratory syndrome ISO RGD:10785 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 11872917 IL10 interleukin 10 gene DOID:2945 severe acute respiratory syndrome ISO RGD:2886 D RGD:9068941 20200702 RGD protein:increased expression:serum, bronchoalveolar Lavage fluid (rat) PMID:16409721|REF_RGD_ID:32726073 11872917 IL10 interleukin 10 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:735591 D RGD:9068941 20200702 RGD PMID:15865221|REF_RGD_ID:33769580 11872917 IL10 interleukin 10 gene DOID:3021 acute kidney failure ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18460982 11872917 IL10 interleukin 10 gene DOID:3042 allergic contact dermatitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15347381 11872917 IL10 interleukin 10 gene DOID:3042 allergic contact dermatitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:23760007|REF_RGD_ID:7364806 11872917 IL10 interleukin 10 gene DOID:3070 high grade glioma susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP: :rs1800896 (human) PMID:20406895|REF_RGD_ID:4140470 11872917 IL10 interleukin 10 gene DOID:3229 gastric dilatation ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:30249047|REF_RGD_ID:14975138 11872917 IL10 interleukin 10 gene DOID:3234 central nervous system lymphoma ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082G>A (human) PMID:22628023|REF_RGD_ID:7364831 11872917 IL10 interleukin 10 gene DOID:3310 atopic dermatitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 11872917 IL10 interleukin 10 gene DOID:3310 atopic dermatitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:23843958|REF_RGD_ID:7364805 11872917 IL10 interleukin 10 gene DOID:3393 coronary artery disease ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16460885|REF_RGD_ID:1598621 11872917 IL10 interleukin 10 gene DOID:3393 coronary artery disease no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-592C>A (rs1800872), -819C>T (rs1800871) (human) PMID:29525679|REF_RGD_ID:14975129 11872917 IL10 interleukin 10 gene DOID:3393 coronary artery disease susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082A>G (rs1800896) (human) PMID:29525679|REF_RGD_ID:14975129 11872917 IL10 interleukin 10 gene DOID:3407 carotid artery disease ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16801669|REF_RGD_ID:1598484 11872917 IL10 interleukin 10 gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:10785 D RGD:9068941 20230330 RGD PMID:28630232|REF_RGD_ID:242905192 11872917 IL10 interleukin 10 gene DOID:3526 cerebral infarction treatment ISO RGD:10785 D RGD:9068941 20220930 RGD PMID:29111308|REF_RGD_ID:155260331 11872917 IL10 interleukin 10 gene DOID:3571 liver cancer ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:30610790|REF_RGD_ID:14975253 11872917 IL10 interleukin 10 gene DOID:3602 toxic encephalopathy treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23916895|REF_RGD_ID:7364985 11872917 IL10 interleukin 10 gene DOID:37 skin disease severity ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Arsenic Poisoning PMID:21357384|REF_RGD_ID:7364846 11872917 IL10 interleukin 10 gene DOID:37 skin disease susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Arsenic Poisoning;DNA:SNP:promoter:−3575T>A (human) PMID:21357384|REF_RGD_ID:7364846 11872917 IL10 interleukin 10 gene DOID:3721 plasmacytoma ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:26140236|REF_RGD_ID:11049175 11872917 IL10 interleukin 10 gene DOID:3825 Shwartzman phenomenon ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:7593621|REF_RGD_ID:11049456 11872917 IL10 interleukin 10 gene DOID:3904 bronchus carcinoma ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:8030748|REF_RGD_ID:4143231 11872917 IL10 interleukin 10 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20471133 11872917 IL10 interleukin 10 gene DOID:4362 cervical cancer disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9541628|REF_RGD_ID:2317658 11872917 IL10 interleukin 10 gene DOID:4404 occupational dermatitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29477354 11872917 IL10 interleukin 10 gene DOID:4481 allergic rhinitis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:23883806|REF_RGD_ID:7364793 11872917 IL10 interleukin 10 gene DOID:4481 allergic rhinitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:23253209|REF_RGD_ID:7364818 11872917 IL10 interleukin 10 gene DOID:4780 anti-basement membrane glomerulonephritis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23826305|REF_RGD_ID:7365004 11872917 IL10 interleukin 10 gene DOID:4948 gallbladder carcinoma susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Cholelithiasis PMID:19065724|REF_RGD_ID:2317654 11872917 IL10 interleukin 10 gene DOID:4989 pancreatitis ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19399939|REF_RGD_ID:2306925 11872917 IL10 interleukin 10 gene DOID:5041 esophageal cancer treatment ISO RGD:735591 D RGD:9068941 20220715 RGD PMID:26603620|REF_RGD_ID:152998997 11872917 IL10 interleukin 10 gene DOID:5082 liver cirrhosis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082G>A (rs1800896) (human) PMID:26909998|REF_RGD_ID:14975152 11872917 IL10 interleukin 10 gene DOID:5082 liver cirrhosis no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592C>A (rs1800872) (human) PMID:26909998|REF_RGD_ID:14975152 11872917 IL10 interleukin 10 gene DOID:5082 liver cirrhosis no_association ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNP:promoter:-1082 G>A (human) PMID:27660094|REF_RGD_ID:14975134 11872917 IL10 interleukin 10 gene DOID:5082 liver cirrhosis severity ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNP:promoter:-592C>A (human) PMID:27660094|REF_RGD_ID:14975134 11872917 IL10 interleukin 10 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735591 D RGD:7240710 20230517 OMIM 11872917 IL10 interleukin 10 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735591 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:11121048|PMID:14657422|PMID:14657427|PMID:25741868|PMID:28492532 11872917 IL10 interleukin 10 gene DOID:526 human immunodeficiency virus infectious disease treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:10666520|REF_RGD_ID:7365087 11872917 IL10 interleukin 10 gene DOID:5419 schizophrenia ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:11922883|REF_RGD_ID:1580481 11872917 IL10 interleukin 10 gene DOID:552 pneumonia disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:20595152|REF_RGD_ID:4140400 11872917 IL10 interleukin 10 gene DOID:5679 retinal disease ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:21273540|REF_RGD_ID:7364850 11872917 IL10 interleukin 10 gene DOID:5679 retinal disease treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:23720065|REF_RGD_ID:7364808 11872917 IL10 interleukin 10 gene DOID:5844 myocardial infarction ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15883752|PMID:16310260 11872917 IL10 interleukin 10 gene DOID:5844 myocardial infarction susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:15466015|REF_RGD_ID:1598480 11872917 IL10 interleukin 10 gene DOID:6000 congestive heart failure ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:28939262|REF_RGD_ID:14975271 11872917 IL10 interleukin 10 gene DOID:6000 congestive heart failure disease_progression ISO RGD:2886 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cardiac ventricle (rat) PMID:16461369|REF_RGD_ID:1598465 11872917 IL10 interleukin 10 gene DOID:6000 congestive heart failure treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23778495|REF_RGD_ID:7365020 11872917 IL10 interleukin 10 gene DOID:630 genetic disease ISO RGD:735591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11872917 IL10 interleukin 10 gene DOID:6432 pulmonary hypertension disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20713898|REF_RGD_ID:4142530 11872917 IL10 interleukin 10 gene DOID:684 hepatocellular carcinoma ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:26890368|REF_RGD_ID:14975171 11872917 IL10 interleukin 10 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23822114|REF_RGD_ID:7365006 11872917 IL10 interleukin 10 gene DOID:686 liver carcinoma ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592C>A (rs1800872) (human) PMID:28763918|REF_RGD_ID:14975157 11872917 IL10 interleukin 10 gene DOID:7148 rheumatoid arthritis ISO RGD:735591 D RGD:7240710 20230517 OMIM 11872917 IL10 interleukin 10 gene DOID:7148 rheumatoid arthritis ISO RGD:735591 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Rheumatoid arthritis, progression of PMID:12847677|PMID:25741868|PMID:28492532 11872917 IL10 interleukin 10 gene DOID:718 autoimmune hemolytic anemia treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:12093879|REF_RGD_ID:11049457 11872917 IL10 interleukin 10 gene DOID:7693 abdominal aortic aneurysm ISO RGD:2886 D RGD:9068941 20201002 RGD protein:decreased expression:serum (rat) PMID:15238617|REF_RGD_ID:1302825 11872917 IL10 interleukin 10 gene DOID:7997 thyrotoxicosis ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19343192|REF_RGD_ID:2311054 11872917 IL10 interleukin 10 gene DOID:7998 hyperthyroidism ISO RGD:10785 D RGD:9068941 20200609 RGD associated with Graves Disease PMID:21474590|REF_RGD_ID:7364857 11872917 IL10 interleukin 10 gene DOID:7998 hyperthyroidism ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:24534949|REF_RGD_ID:11049472 11872917 IL10 interleukin 10 gene DOID:820 myocarditis ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:17042978|REF_RGD_ID:1598481 11872917 IL10 interleukin 10 gene DOID:820 myocarditis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD associated with Coxsackievirus Infections PMID:21333491|REF_RGD_ID:7364847 11872917 IL10 interleukin 10 gene DOID:824 periodontitis ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23843954|REF_RGD_ID:7364998 11872917 IL10 interleukin 10 gene DOID:824 periodontitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:27795360|REF_RGD_ID:14975132 11872917 IL10 interleukin 10 gene DOID:824 periodontitis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:30405072|REF_RGD_ID:14975259 11872917 IL10 interleukin 10 gene DOID:8337 appendicitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367942 11872917 IL10 interleukin 10 gene DOID:8437 intestinal obstruction ISO RGD:2886 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19377777|REF_RGD_ID:2311052 11872917 IL10 interleukin 10 gene DOID:8483 retinal artery occlusion susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592C>A (rs1800872) (human) PMID:17438520|REF_RGD_ID:7365056 11872917 IL10 interleukin 10 gene DOID:850 lung disease ISO RGD:2886 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:19386070|REF_RGD_ID:2311048 11872917 IL10 interleukin 10 gene DOID:850 lung disease ISO RGD:2886 D RGD:9068941 20200609 RGD Ventilator-Induced Lung Injury;protein:increased expression:lung PMID:20663303|REF_RGD_ID:4140396 11872917 IL10 interleukin 10 gene DOID:850 lung disease ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Shock, Hemorrhagic PMID:20622590|REF_RGD_ID:4140398 11872917 IL10 interleukin 10 gene DOID:850 lung disease ISO RGD:735591 D RGD:9068941 20200806 RGD associated with HTLV-I Infections;protein:increased expression:bronchoalveolar lavage fluid: PMID:24292748|REF_RGD_ID:36947872 11872917 IL10 interleukin 10 gene DOID:8536 herpes zoster ISO RGD:735591 D RGD:9068941 20200609 RGD protein:decreased expression:: PMID:21954956|REF_RGD_ID:8663478 11872917 IL10 interleukin 10 gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:20305143|REF_RGD_ID:11049154 11872917 IL10 interleukin 10 gene DOID:8564 lip cancer ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:26723902|REF_RGD_ID:14975265 11872917 IL10 interleukin 10 gene DOID:8567 Hodgkin's lymphoma treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:21466366|REF_RGD_ID:11049168 11872917 IL10 interleukin 10 gene DOID:8577 ulcerative colitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18836448|PMID:20228799 11872917 IL10 interleukin 10 gene DOID:8577 ulcerative colitis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:26660358|PMID:28120341|REF_RGD_ID:14975153|REF_RGD_ID:14975255 11872917 IL10 interleukin 10 gene DOID:865 vasculitis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16504995|REF_RGD_ID:1598487 11872917 IL10 interleukin 10 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:22450025|REF_RGD_ID:11049491 11872917 IL10 interleukin 10 gene DOID:8677 perinatal necrotizing enterocolitis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23783008|REF_RGD_ID:7365018 11872917 IL10 interleukin 10 gene DOID:8717 decubitus ulcer ISO RGD:2886 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:26177082|REF_RGD_ID:11049489 11872917 IL10 interleukin 10 gene DOID:874 bacterial pneumonia severity ISO RGD:10785 D RGD:9068941 20200820 RGD PMID:25398094|REF_RGD_ID:38501102 11872917 IL10 interleukin 10 gene DOID:8778 Crohn's disease ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:29899181|REF_RGD_ID:14975133 11872917 IL10 interleukin 10 gene DOID:8778 Crohn's disease ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 11872917 IL10 interleukin 10 gene DOID:8778 Crohn's disease treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:11113068|REF_RGD_ID:11049181 11872917 IL10 interleukin 10 gene DOID:8893 psoriasis onset ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082G>A (human) PMID:11298547|REF_RGD_ID:7829824 11872917 IL10 interleukin 10 gene DOID:8924 autoimmune thrombocytopenic purpura disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-627C>A (human) PMID:25051072|REF_RGD_ID:11041894 11872917 IL10 interleukin 10 gene DOID:8924 autoimmune thrombocytopenic purpura disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:promoter:-1082A>G, -819C>T, -592C>A (human) PMID:22677268|REF_RGD_ID:11046267 11872917 IL10 interleukin 10 gene DOID:893 Wilson disease ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25002079 11872917 IL10 interleukin 10 gene DOID:8947 diabetic retinopathy ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16696964|REF_RGD_ID:1598486 11872917 IL10 interleukin 10 gene DOID:8947 diabetic retinopathy ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor PMID:18978347|REF_RGD_ID:2307061 11872917 IL10 interleukin 10 gene DOID:8947 diabetic retinopathy ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:22105495|REF_RGD_ID:7364856 11872917 IL10 interleukin 10 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:18988929|REF_RGD_ID:2307272 11872917 IL10 interleukin 10 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:29691718|REF_RGD_ID:14975124 11872917 IL10 interleukin 10 gene DOID:9000099 Experimental Colitis ISO RGD:10785 D RGD:9068941 20200609 RGD associated with Helicobacter Infections PMID:16982822|REF_RGD_ID:11049170 11872917 IL10 interleukin 10 gene DOID:9000099 Experimental Colitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:27815529|REF_RGD_ID:14975260 11872917 IL10 interleukin 10 gene DOID:9000099 Experimental Colitis treatment ISO RGD:2886 D RGD:9068941 20220623 RGD PMID:25727887|PMID:29572553|REF_RGD_ID:11049485|REF_RGD_ID:152995414 11872917 IL10 interleukin 10 gene DOID:9000173 Eye Burns treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:22553604|REF_RGD_ID:7364851 11872917 IL10 interleukin 10 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19222424 11872917 IL10 interleukin 10 gene DOID:9000656 Penetrating Wounds ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:26101070|REF_RGD_ID:11049529 11872917 IL10 interleukin 10 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:20406594|REF_RGD_ID:4140467 11872917 IL10 interleukin 10 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:23968122|REF_RGD_ID:11049496 11872917 IL10 interleukin 10 gene DOID:9000855 Experimental Radiation Injuries treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23788042|REF_RGD_ID:7365012 11872917 IL10 interleukin 10 gene DOID:9000927 Alveolar Bone Loss treatment ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:26270535|REF_RGD_ID:11049527 11872917 IL10 interleukin 10 gene DOID:9000945 Ventilator-Induced Lung Injury treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:22106021|PMID:23890086|REF_RGD_ID:11049495|REF_RGD_ID:7364989 11872917 IL10 interleukin 10 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16035616|REF_RGD_ID:1598627 11872917 IL10 interleukin 10 gene DOID:9000998 Brain Injuries ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 11872917 IL10 interleukin 10 gene DOID:9000998 Brain Injuries severity ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:23075771|REF_RGD_ID:7364822 11872917 IL10 interleukin 10 gene DOID:9000998 Brain Injuries treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23971414|REF_RGD_ID:7364983 11872917 IL10 interleukin 10 gene DOID:9001004 Chronic Periodontitis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:-592C>A, -819 C>T, -1082G>A (human) PMID:31055876|REF_RGD_ID:14975127 11872917 IL10 interleukin 10 gene DOID:9001044 Choroidal Neovascularization ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:16903779|REF_RGD_ID:7365068 11872917 IL10 interleukin 10 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:22802947|REF_RGD_ID:7364853 11872917 IL10 interleukin 10 gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:10785 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:22940620|REF_RGD_ID:7364825 11872917 IL10 interleukin 10 gene DOID:9001204 Dyspepsia ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-819C>A (rs1800871)(human) PMID:28965252|REF_RGD_ID:14975154 11872917 IL10 interleukin 10 gene DOID:9001204 Dyspepsia no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082G>A (rs1800896)(human) PMID:28965252|REF_RGD_ID:14975154 11872917 IL10 interleukin 10 gene DOID:9001472 Nasal Polyps ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:22462754|REF_RGD_ID:7364835 11872917 IL10 interleukin 10 gene DOID:9001488 Human Influenza susceptibility ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:20200252|REF_RGD_ID:4140426 11872917 IL10 interleukin 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12632514|PMID:15362042|PMID:16097045|PMID:16126171|PMID:16539848|PMID:16552806|PMID:16609999|PMID:16688825|PMID:18251166 11872917 IL10 interleukin 10 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23980370|PMID:24993843|REF_RGD_ID:11049490|REF_RGD_ID:7364982 11872917 IL10 interleukin 10 gene DOID:9001600 Wounds and Injuries ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:14715528|REF_RGD_ID:1598466 11872917 IL10 interleukin 10 gene DOID:9001708 Hemorrhagic Shock ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:serum, lymph PMID:19160132|REF_RGD_ID:2311060 11872917 IL10 interleukin 10 gene DOID:9001981 Weight Loss ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:24314293|PMID:27580383 11872917 IL10 interleukin 10 gene DOID:9001995 Actinic Cheilitis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:26723902|REF_RGD_ID:14975265 11872917 IL10 interleukin 10 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:21911118|REF_RGD_ID:7364839 11872917 IL10 interleukin 10 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphisms:promoter:g.-1082G>A, g.-819C>T, g.-592C>A (human) PMID:19031431|REF_RGD_ID:2308943 11872917 IL10 interleukin 10 gene DOID:9002211 Hyperalgesia ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:23957449|REF_RGD_ID:7364792 11872917 IL10 interleukin 10 gene DOID:9002211 Hyperalgesia ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17174526|PMID:7582491 11872917 IL10 interleukin 10 gene DOID:9002211 Hyperalgesia treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:22820166|REF_RGD_ID:7364827 11872917 IL10 interleukin 10 gene DOID:9002211 Hyperalgesia treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:24077211|REF_RGD_ID:7364865 11872917 IL10 interleukin 10 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human) PMID:19573080|REF_RGD_ID:11049165 11872917 IL10 interleukin 10 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:22945689|REF_RGD_ID:11041895 11872917 IL10 interleukin 10 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:10638947|REF_RGD_ID:11049174 11872917 IL10 interleukin 10 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:19573080|REF_RGD_ID:11049165 11872917 IL10 interleukin 10 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16284379|PMID:17999153|PMID:18174250 11872917 IL10 interleukin 10 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:2886 D RGD:9068941 20200910 RGD PMID:19907173|REF_RGD_ID:13702882 11872917 IL10 interleukin 10 gene DOID:9002457 Experimental Arthritis ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:19193354|REF_RGD_ID:2311059 11872917 IL10 interleukin 10 gene DOID:9002457 Experimental Arthritis ISO RGD:2886 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:19169271|REF_RGD_ID:8662976 11872917 IL10 interleukin 10 gene DOID:9002457 Experimental Arthritis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20974942|PMID:22450443 11872917 IL10 interleukin 10 gene DOID:9002457 Experimental Arthritis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:15270736|REF_RGD_ID:1626677 11872917 IL10 interleukin 10 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:22052031|PMID:23140046|REF_RGD_ID:7193038|REF_RGD_ID:7364838 11872917 IL10 interleukin 10 gene DOID:9002720 Splenomegaly ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:19060266|REF_RGD_ID:7365027 11872917 IL10 interleukin 10 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23872438|REF_RGD_ID:7364993 11872917 IL10 interleukin 10 gene DOID:9002805 Enterocolitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17574631 11872917 IL10 interleukin 10 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 11872917 IL10 interleukin 10 gene DOID:9002906 Multiple Organ Failure ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10479408 11872917 IL10 interleukin 10 gene DOID:9003610 Asthenopia ISO RGD:10785 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20415740|REF_RGD_ID:7364861 11872917 IL10 interleukin 10 gene DOID:9003688 Toxoplasma Chorioretinitis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:−1082G>A (human) PMID:18436829|REF_RGD_ID:7365046 11872917 IL10 interleukin 10 gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16807647|REF_RGD_ID:1598472 11872917 IL10 interleukin 10 gene DOID:9004009 Reperfusion Injury ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:12388354|PMID:19514843|REF_RGD_ID:2308950|REF_RGD_ID:5508171 11872917 IL10 interleukin 10 gene DOID:9004009 Reperfusion Injury ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18460982 11872917 IL10 interleukin 10 gene DOID:9004009 Reperfusion Injury ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16141682|REF_RGD_ID:1598625 11872917 IL10 interleukin 10 gene DOID:9004017 Chronic Hepatitis C ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592C>A (rs1800872) (human) PMID:29247709|REF_RGD_ID:14975141 11872917 IL10 interleukin 10 gene DOID:9004017 Chronic Hepatitis C ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:26095186|REF_RGD_ID:14700655 11872917 IL10 interleukin 10 gene DOID:9004017 Chronic Hepatitis C no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter: rs3021094, rs3024498 (human) PMID:29247709|REF_RGD_ID:14975141 11872917 IL10 interleukin 10 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: PMID:26095186|REF_RGD_ID:14700655 11872917 IL10 interleukin 10 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:735591 D RGD:9068941 20200813 RGD PMID:25708446|REF_RGD_ID:38456002 11872917 IL10 interleukin 10 gene DOID:9004283 Transplant Rejection treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:22564629|REF_RGD_ID:7364833 11872917 IL10 interleukin 10 gene DOID:9004283 Transplant Rejection treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23870834|REF_RGD_ID:7364994 11872917 IL10 interleukin 10 gene DOID:9004283 Transplant Rejection treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:17275523|REF_RGD_ID:11049523 11872917 IL10 interleukin 10 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:735591 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11872917 IL10 interleukin 10 gene DOID:9004422 Chagas Cardiomyopathy treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:24055715|REF_RGD_ID:7364866 11872917 IL10 interleukin 10 gene DOID:9004484 Sepsis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:28108420|REF_RGD_ID:14975261 11872917 IL10 interleukin 10 gene DOID:9004484 Sepsis ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19371254|REF_RGD_ID:2311053 11872917 IL10 interleukin 10 gene DOID:9004484 Sepsis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11441115 11872917 IL10 interleukin 10 gene DOID:9004484 Sepsis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:27488951|REF_RGD_ID:14975262 11872917 IL10 interleukin 10 gene DOID:9004484 Sepsis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:24055021|REF_RGD_ID:7364867 11872917 IL10 interleukin 10 gene DOID:9004538 Hearing Loss treatment ISO RGD:10785 D RGD:9068941 20200609 RGD associated with Autoimmune Diseases PMID:21697956|REF_RGD_ID:7364842 11872917 IL10 interleukin 10 gene DOID:9004538 Hearing Loss treatment ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Meningitis, Pneumococcal PMID:22644021|REF_RGD_ID:7364829 11872917 IL10 interleukin 10 gene DOID:9004590 Acute Liver Failure ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-1082A>G (rs1800896), -819T>C (rs1800871), -592A>C (rs1800872) (human) PMID:30109600|REF_RGD_ID:14975142 11872917 IL10 interleukin 10 gene DOID:9004610 Acute Lung Injury ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Reperfusion Injury;protein:increased expression:lung, plasma PMID:23801594|REF_RGD_ID:7365008 11872917 IL10 interleukin 10 gene DOID:9004610 Acute Lung Injury ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082G>A (rs1800896) (human) PMID:30412745|REF_RGD_ID:14975158 11872917 IL10 interleukin 10 gene DOID:9004610 Acute Lung Injury no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs3021097 (human) PMID:30412745|REF_RGD_ID:14975158 11872917 IL10 interleukin 10 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23902576|REF_RGD_ID:7364984 11872917 IL10 interleukin 10 gene DOID:9004649 Heat Stroke ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 11872917 IL10 interleukin 10 gene DOID:9004932 Eales Disease ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:promoter PMID:20720222|REF_RGD_ID:7364860 11872917 IL10 interleukin 10 gene DOID:9004945 Ocular Toxoplasmosis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:19026704|REF_RGD_ID:7365028 11872917 IL10 interleukin 10 gene DOID:9005172 Lung Neoplasms ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14587096 11872917 IL10 interleukin 10 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14999141 11872917 IL10 interleukin 10 gene DOID:9005372 Inflammation ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:20304473|REF_RGD_ID:4140417 11872917 IL10 interleukin 10 gene DOID:9005372 Inflammation ISO RGD:10785 D RGD:9068941 20200609 RGD associated with Pneumonia PMID:20357828|REF_RGD_ID:4140420 11872917 IL10 interleukin 10 gene DOID:9005372 Inflammation ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:23861957|REF_RGD_ID:7364996 11872917 IL10 interleukin 10 gene DOID:9005372 Inflammation ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181422 11872917 IL10 interleukin 10 gene DOID:9005372 Inflammation ISO RGD:735591 D RGD:9068941 20200609 RGD associated with inflammatory bowel disease PMID:26802082|REF_RGD_ID:14975136 11872917 IL10 interleukin 10 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:18779928|REF_RGD_ID:2308946 11872917 IL10 interleukin 10 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increase expression:serum PMID:18787467|REF_RGD_ID:2308945 11872917 IL10 interleukin 10 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:18390724|REF_RGD_ID:7365052 11872917 IL10 interleukin 10 gene DOID:9005647 Experimental Autoimmune Uveitis disease_progression ISO RGD:2886 D RGD:9068941 20221222 RGD PMID:31209505|REF_RGD_ID:155791448 11872917 IL10 interleukin 10 gene DOID:9005647 Experimental Autoimmune Uveitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:16043105|PMID:18495789|REF_RGD_ID:7365044|REF_RGD_ID:7365069 11872917 IL10 interleukin 10 gene DOID:9005700 Airway Obstruction susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:17690329|REF_RGD_ID:4142510 11872917 IL10 interleukin 10 gene DOID:9005930 Endotoxemia ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:28664613|REF_RGD_ID:14975137 11872917 IL10 interleukin 10 gene DOID:9005930 Endotoxemia ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19302852|REF_RGD_ID:2311055 11872917 IL10 interleukin 10 gene DOID:9005930 Endotoxemia treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:27943364|REF_RGD_ID:14975170 11872917 IL10 interleukin 10 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 11872917 IL10 interleukin 10 gene DOID:9005941 Rhinosinusitis ISO RGD:735591 D RGD:9068941 20200609 RGD protein:decreased expression:blood, mononuclear cell PMID:23168151|REF_RGD_ID:7364820 11872917 IL10 interleukin 10 gene DOID:9005968 Neuralgia ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:16949747|REF_RGD_ID:1598632 11872917 IL10 interleukin 10 gene DOID:9005968 Neuralgia treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:25078297|REF_RGD_ID:11049468 11872917 IL10 interleukin 10 gene DOID:9005968 Neuralgia treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:24077211|REF_RGD_ID:7364865 11872917 IL10 interleukin 10 gene DOID:9006205 Animal Disease Models ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27580383|PMID:28411859 11872917 IL10 interleukin 10 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:28664613|REF_RGD_ID:14975137 11872917 IL10 interleukin 10 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:24079335|REF_RGD_ID:7364864 11872917 IL10 interleukin 10 gene DOID:9006549 Enterovirus Infections severity ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592A>C (rs1800872) (human) PMID:28843383|REF_RGD_ID:14975146 11872917 IL10 interleukin 10 gene DOID:9006623 Murine Acquired Immunodeficiency Syndrome ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:23415673|REF_RGD_ID:7364815 11872917 IL10 interleukin 10 gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:11359436|PMID:15240742|REF_RGD_ID:7365075|REF_RGD_ID:7365084 11872917 IL10 interleukin 10 gene DOID:9006642 Experimental Autoimmune Uveoretinitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:22629453|REF_RGD_ID:7364830 11872917 IL10 interleukin 10 gene DOID:9006642 Experimental Autoimmune Uveoretinitis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:21296818|REF_RGD_ID:7364849 11872917 IL10 interleukin 10 gene DOID:9006644 Retroviridae Infections ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:11369878|REF_RGD_ID:11049463 11872917 IL10 interleukin 10 gene DOID:9006709 Primary Graft Dysfunction treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:21911153|REF_RGD_ID:11049478 11872917 IL10 interleukin 10 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735591 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 11872917 IL10 interleukin 10 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23843977|REF_RGD_ID:7247697 11872917 IL10 interleukin 10 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:23878501|REF_RGD_ID:7364804 11872917 IL10 interleukin 10 gene DOID:9007096 Stroke ISO RGD:2886 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:23981596|REF_RGD_ID:7364869 11872917 IL10 interleukin 10 gene DOID:9007096 Stroke no_association ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16323614|REF_RGD_ID:1598623 11872917 IL10 interleukin 10 gene DOID:9007096 Stroke severity ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:15894335|REF_RGD_ID:1598629 11872917 IL10 interleukin 10 gene DOID:9007096 Stroke treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23786953|REF_RGD_ID:7365015 11872917 IL10 interleukin 10 gene DOID:9007204 Dysbiosis treatment ISO RGD:2886 D RGD:9068941 20200903 RGD PMID:32227764|REF_RGD_ID:38549571 11872917 IL10 interleukin 10 gene DOID:9007329 Human Viral Hepatitis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-1082A>G (rs1800896), -819T>C (rs1800871), -592A>C (rs1800872) (human) PMID:30109600|REF_RGD_ID:14975142 11872917 IL10 interleukin 10 gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:25323753|REF_RGD_ID:11049477 11872917 IL10 interleukin 10 gene DOID:9007651 Chronic Bronchitis ISO RGD:2886 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:19507274|REF_RGD_ID:2308951 11872917 IL10 interleukin 10 gene DOID:9007730 Burns ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18277951 11872917 IL10 interleukin 10 gene DOID:9007730 Burns treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:22341647|REF_RGD_ID:11049470 11872917 IL10 interleukin 10 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19275881|REF_RGD_ID:2311056 11872917 IL10 interleukin 10 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23840272|REF_RGD_ID:7365001 11872917 IL10 interleukin 10 gene DOID:9007871 Malignant Pleural Effusions ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:30695099|REF_RGD_ID:14975123 11872917 IL10 interleukin 10 gene DOID:9008103 Seasonal Allergic Rhinitis treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:19505388|REF_RGD_ID:7365025 11872917 IL10 interleukin 10 gene DOID:9008208 Heparin-induced Thrombocytopenia ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:repeats, haplotype:promoter PMID:22239992|REF_RGD_ID:11049164 11872917 IL10 interleukin 10 gene DOID:9008208 Heparin-induced Thrombocytopenia no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human) PMID:22239992|REF_RGD_ID:11049164 11872917 IL10 interleukin 10 gene DOID:9008227 Pregnancy-associated Malaria ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:24717969|REF_RGD_ID:11041890 11872917 IL10 interleukin 10 gene DOID:9008763 Femoral Fractures ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21442011|REF_RGD_ID:5131471 11872917 IL10 interleukin 10 gene DOID:9008865 Entamoebiasis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16374615 11872917 IL10 interleukin 10 gene DOID:9008885 Staphylococcal Infections treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23993644|REF_RGD_ID:7364979 11872917 IL10 interleukin 10 gene DOID:9008939 Breast Neoplasms ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29582634 11872917 IL10 interleukin 10 gene DOID:9065 leishmaniasis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16540374|PMID:20404924 11872917 IL10 interleukin 10 gene DOID:9074 systemic lupus erythematosus ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838195|PMID:20728533 11872917 IL10 interleukin 10 gene DOID:9074 systemic lupus erythematosus ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:12486603|REF_RGD_ID:1580478 11872917 IL10 interleukin 10 gene DOID:9111 cutaneous leishmaniasis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20102417 11872917 IL10 interleukin 10 gene DOID:9111 cutaneous leishmaniasis ISO RGD:735591 D RGD:9068941 20200806 RGD mRNA:increased expression:Peripheral blood mononuclear cell: PMID:29205403|REF_RGD_ID:38455981 11872917 IL10 interleukin 10 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:23357299|REF_RGD_ID:11046264 11872917 IL10 interleukin 10 gene DOID:9146 visceral leishmaniasis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15716043|PMID:17404324|PMID:22461696 11872917 IL10 interleukin 10 gene DOID:9146 visceral leishmaniasis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:29745990|REF_RGD_ID:14975172 11872917 IL10 interleukin 10 gene DOID:916 liver benign neoplasm treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:25168696|REF_RGD_ID:11049493 11872917 IL10 interleukin 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11872917 IL10 interleukin 10 gene DOID:9351 diabetes mellitus ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:22802947|REF_RGD_ID:7364853 11872917 IL10 interleukin 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:28843383|REF_RGD_ID:14975146 11872917 IL10 interleukin 10 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:g.-1082G>A, g.-819C>T, g.-592C>A (human) PMID:19031431|REF_RGD_ID:2308943 11872917 IL10 interleukin 10 gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:2886 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 11872917 IL10 interleukin 10 gene DOID:9452 fatty liver disease ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:18267346|REF_RGD_ID:2308948 11872917 IL10 interleukin 10 gene DOID:9478 postpartum depression ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:17033197|REF_RGD_ID:1598630 11872917 IL10 interleukin 10 gene DOID:9498 pulmonary eosinophilia ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20796249|REF_RGD_ID:4140455 11872917 IL10 interleukin 10 gene DOID:9538 multiple myeloma ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP, polymorphisms:promoter:-1082G>A, (human) PMID:11307152|REF_RGD_ID:11041888 11872917 IL10 interleukin 10 gene DOID:9538 multiple myeloma disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11022130|REF_RGD_ID:11049458 11872917 IL10 interleukin 10 gene DOID:9663 aphthous stomatitis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082G>A (rs1800896) (human) PMID:27266194|REF_RGD_ID:14975145 11872917 IL10 interleukin 10 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19430480 11872917 IL10 interleukin 10 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:17997340|REF_RGD_ID:2308949 11872917 IL10 interleukin 10 gene DOID:9778 irritable bowel syndrome ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12404228 11872917 IL10 interleukin 10 gene DOID:9784 trichinosis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:23465441|REF_RGD_ID:11049476 11872917 IL10 interleukin 10 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:735591 D RGD:9068941 20200609 RGD protein:decreased expression:blood PMID:21653647|REF_RGD_ID:11049158 11872917 IL10 interleukin 10 gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:15860861|REF_RGD_ID:11049169 11872917 IL10 interleukin 10 gene DOID:9970 obesity ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increase expression:serum PMID:18787467|REF_RGD_ID:2308945 11872917 IL10 interleukin 10 gene DOID:9970 obesity ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:28843383|REF_RGD_ID:14975146 11872926 TYRP1 tyrosinase related protein 1 gene DOID:0050632 oculocutaneous albinism ISO RGD:1351708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism 11872926 TYRP1 tyrosinase related protein 1 gene DOID:0050633 ocular albinism ISO RGD:1351708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ocular albinism PMID:25741868|PMID:28492532 11872926 TYRP1 tyrosinase related protein 1 gene DOID:0070096 oculocutaneous albinism type II ISO RGD:1351708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF PMID:18680187|PMID:28492532|PMID:8651291|PMID:9345097 11872926 TYRP1 tyrosinase related protein 1 gene DOID:0070097 oculocutaneous albinism type III ISO RGD:1351708 D RGD:7240710 20180130 OMIM 11872926 TYRP1 tyrosinase related protein 1 gene DOID:0070097 oculocutaneous albinism type III ISO RGD:1351708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism type 3 PMID:15996218|PMID:16199547|PMID:16704458|PMID:17576681|PMID:18326704|PMID:18680187|PMID:18821858|PMID:19533799|PMID:21739261|PMID:23504663|PMID:23862152|PMID:24033266|PMID:25741868|PMID:27734839|PMID:28041643|PMID:28266639|PMID:28492532|PMID:28976636|PMID:29345414|PMID:31233279|PMID:31719542|PMID:8651291|PMID:9345097|PMID:9536098 11872926 TYRP1 tyrosinase related protein 1 gene DOID:1909 melanoma ISO RGD:1351708 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26640592 11872926 TYRP1 tyrosinase related protein 1 gene DOID:299 adenocarcinoma ISO RGD:1351708 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 11872926 TYRP1 tyrosinase related protein 1 gene DOID:630 genetic disease ISO RGD:1351708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11872926 TYRP1 tyrosinase related protein 1 gene DOID:9001386 Albinism ISO RGD:1351708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Albinism PMID:16199547|PMID:25741868|PMID:28041643|PMID:28492532|PMID:8651291|PMID:9345097 11872926 TYRP1 tyrosinase related protein 1 gene DOID:9003119 Nonsyndromic Oculocutaneous Albinism ISO RGD:1351708 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism PMID:16704458|PMID:21739261|PMID:25741868|PMID:28266639|PMID:28492532 11872926 TYRP1 tyrosinase related protein 1 gene DOID:9003127 Skin/Hair/Eye Pigmentation, Variation In, 11 ISO RGD:1351708 D RGD:7240710 20180130 OMIM 11872926 TYRP1 tyrosinase related protein 1 gene DOID:9003127 Skin/Hair/Eye Pigmentation, Variation In, 11 ISO RGD:1351708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 11 PMID:22556244|PMID:24449225|PMID:28492532 11872926 TYRP1 tyrosinase related protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1351708 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 11872947 RHBDD2 rhomboid domain containing 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11872947 RHBDD2 rhomboid domain containing 2 gene DOID:630 genetic disease ISO RGD:1317887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11872947 RHBDD2 rhomboid domain containing 2 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1317887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 11872959 CC2D1B coiled-coil and C2 domain containing 1B gene DOID:630 genetic disease ISO RGD:1603884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873007 CRYGS crystallin gamma S gene DOID:0060575 3MC syndrome 1 ISO RGD:1320030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 11873007 CRYGS crystallin gamma S gene DOID:0110240 cataract 20 multiple types ISO RGD:1320030 D RGD:7240710 20180130 OMIM 11873007 CRYGS crystallin gamma S gene DOID:0110240 cataract 20 multiple types ISO RGD:1320030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 20 multiple types PMID:16141006|PMID:18587492|PMID:19262743|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29964096 11873007 CRYGS crystallin gamma S gene DOID:630 genetic disease ISO RGD:1320030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28166811|PMID:28492532 11873007 CRYGS crystallin gamma S gene DOID:83 cataract ISO RGD:1320030 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16141006 11873017 ADORA2B adenosine A2b receptor gene DOID:630 genetic disease ISO RGD:731019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873017 ADORA2B adenosine A2b receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:731019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27590504 11873017 ADORA2B adenosine A2b receptor gene DOID:9004009 Reperfusion Injury ISO RGD:731019 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27757725 11873017 ADORA2B adenosine A2b receptor gene DOID:9004484 Sepsis ISO RGD:731019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27757725 11873017 ADORA2B adenosine A2b receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731019 D RGD:9068941 20230128 CTD CTD Direct Evidence: therapeutic PMID:35292334 11873018 SERPINB9 serpin family B member 9 gene DOID:630 genetic disease ISO RGD:1318666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873018 SERPINB9 serpin family B member 9 gene DOID:9001341 Chloracne ISO RGD:1318666 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 11873018 SERPINB9 serpin family B member 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318666 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11873029 NCDN neurochondrin gene DOID:0050753 cerebellar ataxia ISO RGD:734133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:33711248 11873029 NCDN neurochondrin gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:734133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11873029 NCDN neurochondrin gene DOID:1059 intellectual disability ISO RGD:734133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:33711248 11873029 NCDN neurochondrin gene DOID:1826 epilepsy ISO RGD:734133 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:33711248 11873029 NCDN neurochondrin gene DOID:630 genetic disease ISO RGD:734133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873029 NCDN neurochondrin gene DOID:9005816 NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS ISO RGD:734133 D RGD:7240710 20220216 OMIM 11873029 NCDN neurochondrin gene DOID:9005816 NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS ISO RGD:734133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with infantile epileptic spasms PMID:25741868|PMID:33711248 11873057 THBS1 thrombospondin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1345942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11873057 THBS1 thrombospondin 1 gene DOID:0080177 hepatic veno-occlusive disease ISO RGD:1345942 D RGD:9068941 20230128 CTD CTD Direct Evidence: marker/mechanism PMID:35357534 11873057 THBS1 thrombospondin 1 gene DOID:0080600 COVID-19 ISO RGD:1345942 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 11873057 THBS1 thrombospondin 1 gene DOID:10283 prostate cancer ISO RGD:1588455 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland PMID:16076702|REF_RGD_ID:2317961 11873057 THBS1 thrombospondin 1 gene DOID:1063 interstitial nephritis ISO RGD:1345942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16005714 11873057 THBS1 thrombospondin 1 gene DOID:11054 urinary bladder cancer severity ISO RGD:1345942 D RGD:9068941 20200609 RGD protein:decreased expression:bladder PMID:20299037|REF_RGD_ID:13602099 11873057 THBS1 thrombospondin 1 gene DOID:114 heart disease ISO RGD:1588455 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:myocardium PMID:16630453|REF_RGD_ID:2317959 11873057 THBS1 thrombospondin 1 gene DOID:11713 diabetic angiopathy ISO RGD:1345942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 11873057 THBS1 thrombospondin 1 gene DOID:12894 Sjogren's syndrome ISO RGD:1615939 D RGD:9068941 20220825 MouseDO OMIM:270150 11873057 THBS1 thrombospondin 1 gene DOID:1793 pancreatic cancer ISO RGD:1345942 D RGD:9068941 20200609 RGD PMID:16757110|REF_RGD_ID:2325023 11873057 THBS1 thrombospondin 1 gene DOID:1793 pancreatic cancer ISO RGD:1345942 D RGD:9068941 20200609 RGD DNA:hypermethylation (human) PMID:10766168|REF_RGD_ID:2325028 11873057 THBS1 thrombospondin 1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1345942 D RGD:9068941 20200609 RGD PMID:20203415|REF_RGD_ID:2325021 11873057 THBS1 thrombospondin 1 gene DOID:2717 Bloom syndrome ISO RGD:1345942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11873057 THBS1 thrombospondin 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1345942 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:19065635|REF_RGD_ID:2325022 11873057 THBS1 thrombospondin 1 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1345942 D RGD:9068941 20200609 RGD PMID:12429967|REF_RGD_ID:2325025 11873057 THBS1 thrombospondin 1 gene DOID:4947 cholangiocarcinoma ISO RGD:1345942 D RGD:9068941 20200609 RGD PMID:16465407|REF_RGD_ID:2325024 11873057 THBS1 thrombospondin 1 gene DOID:4947 cholangiocarcinoma ISO RGD:1345942 D RGD:9068941 20200609 RGD DNA:hypermethylation (human) PMID:12213730|REF_RGD_ID:2325026 11873057 THBS1 thrombospondin 1 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1345942 D RGD:9068941 20200609 RGD PMID:11927969|REF_RGD_ID:2325027 11873057 THBS1 thrombospondin 1 gene DOID:5082 liver cirrhosis ISO RGD:1345942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18407596 11873057 THBS1 thrombospondin 1 gene DOID:5419 schizophrenia ISO RGD:1345942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 11873057 THBS1 thrombospondin 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1345942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11873057 THBS1 thrombospondin 1 gene DOID:5844 myocardial infarction ISO RGD:1588455 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium PMID:16179730|REF_RGD_ID:2317960 11873057 THBS1 thrombospondin 1 gene DOID:630 genetic disease ISO RGD:1345942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11873057 THBS1 thrombospondin 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1345942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11873057 THBS1 thrombospondin 1 gene DOID:8947 diabetic retinopathy ISO RGD:1345942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17117553 11873057 THBS1 thrombospondin 1 gene DOID:8947 diabetic retinopathy ISO RGD:1588455 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17117553|REF_RGD_ID:2317943 11873057 THBS1 thrombospondin 1 gene DOID:9000011 Gallbladder Neoplasms disease_progression ISO RGD:1345942 D RGD:9068941 20200609 RGD PMID:10427124|REF_RGD_ID:2325029 11873057 THBS1 thrombospondin 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1588455 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:19719963|REF_RGD_ID:2317939 11873057 THBS1 thrombospondin 1 gene DOID:9000784 Fibrosis ISO RGD:1345942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16005714 11873057 THBS1 thrombospondin 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1615939 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17878288|REF_RGD_ID:2317941 11873057 THBS1 thrombospondin 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1588455 D RGD:9068941 20200609 RGD PMID:20136391|REF_RGD_ID:2317938 11873057 THBS1 thrombospondin 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1345942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 11873057 THBS1 thrombospondin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1588455 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:15459484|REF_RGD_ID:1626167 11873057 THBS1 thrombospondin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1588455 D RGD:9068941 20200609 RGD PMID:17640965|REF_RGD_ID:2317942 11873057 THBS1 thrombospondin 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345942 D RGD:9068941 20230128 CTD CTD Direct Evidence: marker/mechanism PMID:35357534 11873057 THBS1 thrombospondin 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1588455 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:16179730|REF_RGD_ID:2317960 11873057 THBS1 thrombospondin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1345942 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9309585 11873057 THBS1 thrombospondin 1 gene DOID:9256 colorectal cancer ISO RGD:1345942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11873057 THBS1 thrombospondin 1 gene DOID:9970 obesity ISO RGD:1345942 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:mononuclear cell, adipose tissue: PMID:24086512|REF_RGD_ID:9681453 11873107 SNN stannin gene DOID:5419 schizophrenia ISO RGD:736222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11873107 SNN stannin gene DOID:630 genetic disease ISO RGD:736222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873155 MAL mal, T cell differentiation protein gene DOID:10581 metachromatic leukodystrophy ISO RGD:735676 D RGD:9068941 20200609 RGD PMID:15193296|REF_RGD_ID:1358761 11873155 MAL mal, T cell differentiation protein gene DOID:1749 squamous cell carcinoma ISO RGD:735676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19445022 11873155 MAL mal, T cell differentiation protein gene DOID:630 genetic disease ISO RGD:735676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873155 MAL mal, T cell differentiation protein gene DOID:9006169 Head and Neck Neoplasms ISO RGD:735676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19445022 11873155 MAL mal, T cell differentiation protein gene DOID:9008939 Breast Neoplasms ISO RGD:735676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208741 11873166 UBE2N ubiquitin conjugating enzyme E2 N gene DOID:630 genetic disease ISO RGD:1348630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873166 UBE2N ubiquitin conjugating enzyme E2 N gene DOID:9004994 Embryo Loss ISO RGD:1348630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16738225 11873173 HIPK1 homeodomain interacting protein kinase 1 gene DOID:0080690 RASopathy ISO RGD:1312671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11873173 HIPK1 homeodomain interacting protein kinase 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1312671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 11873173 HIPK1 homeodomain interacting protein kinase 1 gene DOID:630 genetic disease ISO RGD:1312671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873173 HIPK1 homeodomain interacting protein kinase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11873208 ECI2 enoyl-CoA delta isomerase 2 gene DOID:630 genetic disease ISO RGD:1607074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873230 GIPC3 GIPC PDZ domain containing family member 3 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1606469 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587 11873230 GIPC3 GIPC PDZ domain containing family member 3 gene DOID:0110470 autosomal recessive nonsyndromic deafness 15 ISO RGD:1606469 D RGD:7240710 20230505 OMIM 11873230 GIPC3 GIPC PDZ domain containing family member 3 gene DOID:0110470 autosomal recessive nonsyndromic deafness 15 ISO RGD:1606469 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 95 | ClinVar Annotator: match by term: Deafness, autosomal recessive 15 PMID:17690910|PMID:21326233|PMID:21660509|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386|PMID:32682410|PMID:9286457 11873230 GIPC3 GIPC PDZ domain containing family member 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1606469 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:23510777|PMID:24033266|PMID:25741868 11873230 GIPC3 GIPC PDZ domain containing family member 3 gene DOID:630 genetic disease ISO RGD:1606469 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 11873230 GIPC3 GIPC PDZ domain containing family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606469 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11873230 GIPC3 GIPC PDZ domain containing family member 3 gene DOID:9004538 Hearing Loss ISO RGD:1606469 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386|PMID:32682410 11873238 SAFB scaffold attachment factor B gene DOID:630 genetic disease ISO RGD:733074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873272 SLC6A12 solute carrier family 6 member 12 gene DOID:630 genetic disease ISO RGD:731509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873272 SLC6A12 solute carrier family 6 member 12 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 11873272 SLC6A12 solute carrier family 6 member 12 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:731509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11873304 IQCA1 IQ motif containing with AAA domain 1 gene DOID:1059 intellectual disability ISO RGD:1349054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11873304 IQCA1 IQ motif containing with AAA domain 1 gene DOID:630 genetic disease ISO RGD:1349054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873304 IQCA1 IQ motif containing with AAA domain 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1349054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11873329 KNCN kinocilin gene DOID:630 genetic disease ISO RGD:1604992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873335 PRKACG protein kinase cAMP-activated catalytic subunit gamma gene DOID:0111048 platelet-type bleeding disorder 19 ISO RGD:1345258 D RGD:7240710 20180130 OMIM 11873335 PRKACG protein kinase cAMP-activated catalytic subunit gamma gene DOID:0111048 platelet-type bleeding disorder 19 ISO RGD:1345258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Platelet-type bleeding disorder 19 PMID:25061177 11873335 PRKACG protein kinase cAMP-activated catalytic subunit gamma gene DOID:630 genetic disease ISO RGD:1345258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11873340 UCN3 urocortin 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1352070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11873340 UCN3 urocortin 3 gene DOID:5419 schizophrenia ISO RGD:1352070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11873340 UCN3 urocortin 3 gene DOID:630 genetic disease ISO RGD:1352070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873340 UCN3 urocortin 3 gene DOID:850 lung disease ISO RGD:1352070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16855006 11873340 UCN3 urocortin 3 gene DOID:9005372 Inflammation ISO RGD:1352070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16855006 11873345 SHC1 SHC adaptor protein 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1346921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11873345 SHC1 SHC adaptor protein 1 gene DOID:0050851 glomerulosclerosis ameliorates ISO RGD:620446 D RGD:9068941 20210409 RGD PMID:27270176|REF_RGD_ID:12792230 11873345 SHC1 SHC adaptor protein 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1346921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 11873345 SHC1 SHC adaptor protein 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1346921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11873345 SHC1 SHC adaptor protein 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1346921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11873345 SHC1 SHC adaptor protein 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1346921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11873345 SHC1 SHC adaptor protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:1551749 D RGD:9068941 20200609 RGD protein:increased phosphorylation:neuron PMID:15837797|REF_RGD_ID:1643185 11873345 SHC1 SHC adaptor protein 1 gene DOID:1168 familial hyperlipidemia ISO RGD:620446 D RGD:9068941 20200609 RGD PMID:15044008|REF_RGD_ID:1643177 11873345 SHC1 SHC adaptor protein 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1346921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11873345 SHC1 SHC adaptor protein 1 gene DOID:4195 hyperglycemia susceptibility ISO RGD:1551749 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:17360381|REF_RGD_ID:1643173 11873345 SHC1 SHC adaptor protein 1 gene DOID:5082 liver cirrhosis ISO RGD:1346921 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32659284 11873345 SHC1 SHC adaptor protein 1 gene DOID:5812 MHC class II deficiency ISO RGD:1346921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11873345 SHC1 SHC adaptor protein 1 gene DOID:630 genetic disease ISO RGD:1346921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873345 SHC1 SHC adaptor protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:620446 D RGD:9068941 20200609 RGD protein:increased expression, increased phosphorylation:hepatocyte PMID:15375560|REF_RGD_ID:1643188 11873345 SHC1 SHC adaptor protein 1 gene DOID:9001542 Albuminuria ameliorates ISO RGD:620446 D RGD:9068941 20210409 RGD PMID:27270176|REF_RGD_ID:12792230 11873345 SHC1 SHC adaptor protein 1 gene DOID:9003936 Cardiomegaly ISO RGD:1346921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19168439 11873345 SHC1 SHC adaptor protein 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1551749 D RGD:9068941 20200609 RGD PMID:15998704|REF_RGD_ID:1643176 11873345 SHC1 SHC adaptor protein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346921 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:25231249|PMID:32659284 11873345 SHC1 SHC adaptor protein 1 gene DOID:9007692 Insulin Resistance ISO RGD:1346921 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue PMID:17986714|REF_RGD_ID:1643171 11873345 SHC1 SHC adaptor protein 1 gene DOID:9008510 Chronic Hepatitis ISO RGD:620446 D RGD:9068941 20200609 RGD protein:increased expression, increased phosphorylation:hepatocyte PMID:15375560|REF_RGD_ID:1643188 11873345 SHC1 SHC adaptor protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1346921 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast neoplasm 11873345 SHC1 SHC adaptor protein 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11873345 SHC1 SHC adaptor protein 1 gene DOID:9452 fatty liver disease ISO RGD:1346921 D RGD:9068941 20200609 RGD associated with Obesity PMID:17596878|REF_RGD_ID:1642523 11873345 Shc1 SHC adaptor protein 1 gene DOID:9003234 Hypertensive Nephropathy ISO RGD:620446 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:27270176|REF_RGD_ID:12792230 11873402 INPP1 inositol polyphosphate-1-phosphatase gene DOID:0111944 immunodeficiency 31B ISO RGD:1314476 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 11873402 INPP1 inositol polyphosphate-1-phosphatase gene DOID:12849 autistic disorder ISO RGD:1314476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14627686 11873402 INPP1 inositol polyphosphate-1-phosphatase gene DOID:630 genetic disease ISO RGD:1314476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873402 INPP1 inositol polyphosphate-1-phosphatase gene DOID:674 cleft palate ISO RGD:1314476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate 11873402 INPP1 inositol polyphosphate-1-phosphatase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11873425 PRSS57 serine protease 57 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1342482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 11873425 PRSS57 serine protease 57 gene DOID:0080600 COVID-19 ISO RGD:1342482 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11873425 PRSS57 serine protease 57 gene DOID:2843 long QT syndrome ISO RGD:1342482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11873425 PRSS57 serine protease 57 gene DOID:5339 cyclic hematopoiesis ISO RGD:1342482 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11873425 PRSS57 serine protease 57 gene DOID:630 genetic disease ISO RGD:1342482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873430 NGFR nerve growth factor receptor gene DOID:0050328 congenital hypothyroidism treatment ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:23312094|REF_RGD_ID:10414076 11873430 NGFR nerve growth factor receptor gene DOID:0050850 diabetic encephalopathy treatment ISO RGD:3177 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23528019|REF_RGD_ID:7242845 11873430 NGFR nerve growth factor receptor gene DOID:10487 Hirschsprung's disease ISO RGD:730911 D RGD:9068941 20200609 RGD protein:decreased expression:lamina propria:lack of staining is a marker for HD PMID:7807351|REF_RGD_ID:5508387 11873430 NGFR nerve growth factor receptor gene DOID:10652 Alzheimer's disease ISO RGD:10983 D RGD:9068941 20200609 RGD protein:altered localization:brain PMID:19334058|REF_RGD_ID:5508225 11873430 NGFR nerve growth factor receptor gene DOID:10652 Alzheimer's disease ISO RGD:730911 D RGD:9068941 20200609 RGD PMID:2557638|REF_RGD_ID:10414073 11873430 NGFR nerve growth factor receptor gene DOID:10652 Alzheimer's disease ISO RGD:730911 D RGD:9068941 20200609 RGD DNA:SNP:CDS:rs2072446 PMID:18780967|REF_RGD_ID:5508228 11873430 NGFR nerve growth factor receptor gene DOID:10652 Alzheimer's disease ISO RGD:730911 D RGD:9068941 20200609 RGD protein:altered expression:urine PMID:8215963|REF_RGD_ID:10413893 11873430 NGFR nerve growth factor receptor gene DOID:10652 Alzheimer's disease ISO RGD:730911 D RGD:9068941 20200609 RGD protein:decreased expression:basal nucleus of telencephalon, neuron PMID:10683291|REF_RGD_ID:10413892 11873430 NGFR nerve growth factor receptor gene DOID:10652 Alzheimer's disease no_association ISO RGD:730911 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :multiple PMID:22236693|REF_RGD_ID:10413891 11873430 NGFR nerve growth factor receptor gene DOID:10652 Alzheimer's disease treatment ISO RGD:10983 D RGD:9068941 20200609 RGD PMID:23545424|REF_RGD_ID:10413895 11873430 NGFR nerve growth factor receptor gene DOID:10652 Alzheimer's disease treatment ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:19070649|REF_RGD_ID:10413894 11873430 NGFR nerve growth factor receptor gene DOID:10762 portal hypertension ISO RGD:3177 D RGD:9068941 20200609 RGD protein:increased expression:superior mesenteric ganglion PMID:22292477|REF_RGD_ID:10414081 11873430 NGFR nerve growth factor receptor gene DOID:10763 hypertension ISO RGD:3177 D RGD:9068941 20200609 RGD DNA,protein:missense mutation:CDS:c.28G>A, p.A10T (rat strains: SHR/Izm, SHRSP/Izm, WKHT) PMID:8762194|REF_RGD_ID:5508800 11873430 NGFR nerve growth factor receptor gene DOID:11446 sciatic neuropathy ISO RGD:10983 D RGD:9068941 20200609 RGD PMID:17576803|REF_RGD_ID:5144067 11873430 NGFR nerve growth factor receptor gene DOID:11446 sciatic neuropathy ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:23138653|REF_RGD_ID:10414078 11873430 NGFR nerve growth factor receptor gene DOID:11612 polycystic ovary syndrome ISO RGD:3177 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:ovary PMID:15795180|REF_RGD_ID:5508374 11873430 NGFR nerve growth factor receptor gene DOID:11832 visual epilepsy treatment ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:12873743|REF_RGD_ID:9743975 11873430 NGFR nerve growth factor receptor gene DOID:12217 Lewy body dementia ISO RGD:730911 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:8347330|REF_RGD_ID:10413896 11873430 NGFR nerve growth factor receptor gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:19824047|REF_RGD_ID:4891065 11873430 NGFR nerve growth factor receptor gene DOID:12858 Huntington's disease ISO RGD:730911 D RGD:9068941 20200609 RGD mRNA:increased expression:caudate nucleus PMID:18093249|REF_RGD_ID:10058981 11873430 NGFR nerve growth factor receptor gene DOID:1289 neurodegenerative disease ISO RGD:730911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12097334 11873430 NGFR nerve growth factor receptor gene DOID:1307 dementia ISO RGD:3177 D RGD:9068941 20200609 RGD associated with Autoimmune Diseases;protein:decreased expression:medial septal nucleus PMID:8232919|REF_RGD_ID:10413897 11873430 NGFR nerve growth factor receptor gene DOID:14330 Parkinson's disease ISO RGD:730911 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:8347330|REF_RGD_ID:10413896 11873430 NGFR nerve growth factor receptor gene DOID:1555 urticaria ISO RGD:730911 D RGD:9068941 20200609 RGD protein:decreased expression:skin PMID:12653731|REF_RGD_ID:5508479 11873430 NGFR nerve growth factor receptor gene DOID:1596 depressive disorder ISO RGD:730911 D RGD:9068941 20200609 RGD DNA:SNP:CDS:p.S205L, minor (L) allele appears protective PMID:15274039|REF_RGD_ID:5508376 11873430 NGFR nerve growth factor receptor gene DOID:1679 cystitis ISO RGD:3177 D RGD:9068941 20200609 RGD protein, mRNA:increased expression:lumbosacral dorsal root ganglia PMID:18189308|REF_RGD_ID:5508447 11873430 NGFR nerve growth factor receptor gene DOID:1686 glaucoma ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:20943663|REF_RGD_ID:5508695 11873430 NGFR nerve growth factor receptor gene DOID:1793 pancreatic cancer severity ISO RGD:730911 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:associated with longer overall survival PMID:16704535|REF_RGD_ID:5508229 11873430 NGFR nerve growth factor receptor gene DOID:1909 melanoma ISO RGD:730911 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:30339727 11873430 NGFR nerve growth factor receptor gene DOID:1936 atherosclerosis ISO RGD:730911 D RGD:9068941 20200609 RGD protein:increased expression:adventitia, vasa vasorum PMID:11689207|REF_RGD_ID:5508382 11873430 NGFR nerve growth factor receptor gene DOID:224 transient cerebral ischemia ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:11124986|REF_RGD_ID:9743974 11873430 NGFR nerve growth factor receptor gene DOID:2377 multiple sclerosis ISO RGD:730911 D RGD:9068941 20200609 RGD protein:increased expression:reactive astrocytes, microglia/macrophages PMID:11829348|REF_RGD_ID:5508481 11873430 NGFR nerve growth factor receptor gene DOID:2841 asthma ISO RGD:10983 D RGD:9068941 20200609 RGD PMID:12540484|PMID:16603479|REF_RGD_ID:5144070|REF_RGD_ID:5144072 11873430 NGFR nerve growth factor receptor gene DOID:3310 atopic dermatitis ISO RGD:730911 D RGD:9068941 20200609 RGD protein:increased expression:nerve fibers of the papillary dermis PMID:16586073|REF_RGD_ID:5508452 11873430 NGFR nerve growth factor receptor gene DOID:3393 coronary artery disease ISO RGD:730911 D RGD:9068941 20200609 RGD PMID:11935372|REF_RGD_ID:1580935 11873430 NGFR nerve growth factor receptor gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:22678884|REF_RGD_ID:10413900 11873430 NGFR nerve growth factor receptor gene DOID:3770 pulmonary fibrosis ISO RGD:10983 D RGD:9068941 20200609 RGD PMID:17576803|REF_RGD_ID:5144067 11873430 NGFR nerve growth factor receptor gene DOID:4483 rhinitis ISO RGD:730911 D RGD:9068941 20200609 RGD protein:increased expression:blood, eosinophil PMID:18647313|REF_RGD_ID:5144116 11873430 NGFR nerve growth factor receptor gene DOID:6000 congestive heart failure ISO RGD:3177 D RGD:9068941 20200609 RGD associated with Myocardial Infarction ;mRNA:increased expression:heart left ventricle, septum (rat) PMID:16497176|REF_RGD_ID:1642301 11873430 NGFR nerve growth factor receptor gene DOID:630 genetic disease ISO RGD:730911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873430 NGFR nerve growth factor receptor gene DOID:90 degenerative disc disease ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:20973063|REF_RGD_ID:5144150 11873430 NGFR nerve growth factor receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:3177 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:11223160|REF_RGD_ID:5144100 11873430 NGFR nerve growth factor receptor gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:23748892|REF_RGD_ID:10414079 11873430 NGFR nerve growth factor receptor gene DOID:9000310 Lung Injury ISO RGD:10983 D RGD:9068941 20200609 RGD PMID:17673270|REF_RGD_ID:5144065 11873430 NGFR nerve growth factor receptor gene DOID:9000641 Pain ISO RGD:3177 D RGD:9068941 20200609 RGD associated with Inflammation PMID:20060234|REF_RGD_ID:5144063 11873430 NGFR nerve growth factor receptor gene DOID:9000998 Brain Injuries treatment ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:23940017|REF_RGD_ID:10414074 11873430 NGFR nerve growth factor receptor gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:22302815|REF_RGD_ID:10413905 11873430 NGFR nerve growth factor receptor gene DOID:9001240 Peripheral Nerve Injuries treatment ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:22669154|REF_RGD_ID:10413899 11873430 NGFR nerve growth factor receptor gene DOID:9002211 Hyperalgesia treatment ISO RGD:3177 D RGD:9068941 20200609 RGD associated with Brachial Plexus Neuropathies PMID:23324933|REF_RGD_ID:10413898 11873430 NGFR nerve growth factor receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:730911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17409433|PMID:18056468 11873430 NGFR nerve growth factor receptor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3177 D RGD:9068941 20200609 RGD mRNA:increased expression:central nervous system PMID:8866783|REF_RGD_ID:5508386 11873430 NGFR nerve growth factor receptor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis severity ISO RGD:10983 D RGD:9068941 20200609 RGD PMID:16519950|REF_RGD_ID:5508312 11873430 NGFR nerve growth factor receptor gene DOID:9002955 Nerve Degeneration ISO RGD:730911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10436046 11873430 NGFR nerve growth factor receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3177 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:21136036|REF_RGD_ID:5144144 11873430 NGFR nerve growth factor receptor gene DOID:9006190 Chronic Pancreatitis ISO RGD:730911 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:12741461|REF_RGD_ID:5508378 11873430 NGFR nerve growth factor receptor gene DOID:9007500 Prurigo ISO RGD:730911 D RGD:9068941 20200609 RGD protein:increased expression:skin Schwann cells, skin perineurium cells PMID:10025723|REF_RGD_ID:5508384 11873430 NGFR nerve growth factor receptor gene DOID:9008091 Optic Nerve Injuries ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:20943663|REF_RGD_ID:5508695 11873430 NGFR nerve growth factor receptor gene DOID:9743 diabetic neuropathy ISO RGD:3177 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:dorsal root ganglia (GK/KyoSwe) PMID:12469361|REF_RGD_ID:5508379 11873440 CBFA2T2 CBFA2/RUNX1 partner transcriptional co-repressor 2 gene DOID:2843 long QT syndrome ISO RGD:1319231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11873440 CBFA2T2 CBFA2/RUNX1 partner transcriptional co-repressor 2 gene DOID:630 genetic disease ISO RGD:1319231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873467 SNX31 sorting nexin 31 gene DOID:0111590 Cohen syndrome ISO RGD:1603261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 11873467 SNX31 sorting nexin 31 gene DOID:630 genetic disease ISO RGD:1603261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873486 PCSK9 proprotein convertase subtilisin/kexin type 9 gene DOID:13810 familial hypercholesterolemia ISO RGD:731023 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:10357843|PMID:10764678|PMID:11668641|PMID:12175777|PMID:12730697|PMID:14727156|PMID:14727179|PMID:15099351|PMID:15166014|PMID:15358785|PMID:15654334|PMID:15772090|PMID:15893176|PMID:16183066|PMID:16211558|PMID:16224054|PMID:16314194|PMID:16424354|PMID:16465619|PMID:16554528|PMID:16571601|PMID:16777760|PMID:16909389|PMID:16912035|PMID:16989838|PMID:17094996|PMID:17140581|PMID:17170371|PMID:17316651|PMID:17380167|PMID:17435765|PMID:17461796|PMID:17502126|PMID:17599443|PMID:17765244|PMID:17765246|PMID:17804797|PMID:17921436|PMID:17971861|PMID:18028451|PMID:18039650|PMID:18197702|PMID:18250299|PMID:18262190|PMID:18266662|PMID:18300938|PMID:18354102|PMID:18436227|PMID:18559913|PMID:18631360|PMID:18652535|PMID:18710658|PMID:18718593|PMID:18799458|PMID:19001363|PMID:19022446|PMID:19081568|PMID:19191301|PMID:19249440|PMID:19351729|PMID:19571328|PMID:19762784|PMID:19768174|PMID:19797716|PMID:19917273|PMID:20006333|PMID:20031607|PMID:20172854|PMID:20538126|PMID:20579540|PMID:20623344|PMID:20959675|PMID:21146822|PMID:21147780|PMID:21376320|PMID:21502677|PMID:21722902|PMID:21943799|PMID:22095935|PMID:22344438|PMID:22417841|PMID:22683120|PMID:22875854|PMID:22923420|PMID:22995991|PMID:23064986|PMID:23095242|PMID:23105118|PMID:23247049|PMID:23298392|PMID:23375686|PMID:23386946|PMID:23535506|PMID:23555291|PMID:23663650|PMID:23680767|PMID:23743349|PMID:23935525|PMID:24033266|PMID:24115837|PMID:24278757|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24785115|PMID:24793346|PMID:24808179|PMID:24859021|PMID:25014035|PMID:25046268|PMID:25278291|PMID:25412415|PMID:25525159|PMID:25600226|PMID:25741868|PMID:25744035|PMID:25904937|PMID:25962062|PMID:25985138|PMID:26020417|PMID:26036859|PMID:26049403|PMID:26195630|PMID:26332594|PMID:26343872|PMID:26374825|PMID:26467025|PMID:26541928|PMID:26546829|PMID:26586530|PMID:26632531|PMID:26633542|PMID:26636822|PMID:26688439|PMID:26690388|PMID:26802169|PMID:26937405|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27206942|PMID:27218270|PMID:27280970|PMID:27422940|PMID:27516387|PMID:27602404|PMID:27765764|PMID:27896130|PMID:27919364|PMID:27998977|PMID:28008010|PMID:28166811|PMID:28179607|PMID:28302345|PMID:28323660|PMID:28349888|PMID:28360401|PMID:28438747|PMID:28492532|PMID:28521186|PMID:28587771|PMID:28768753|PMID:28777095|PMID:28784313|PMID:28965616|PMID:28994502|PMID:29036232|PMID:29083407|PMID:29127338|PMID:29259136|PMID:29261184|PMID:29386597|PMID:29399563|PMID:29438441|PMID:29459468|PMID:29572815|PMID:29593013|PMID:29724976|PMID:29748315|PMID:29982529|PMID:29997226|PMID:30227170|PMID:30241732|PMID:30270359|PMID:30293936|PMID:30487145|PMID:30526649|PMID:30726226|PMID:30779729|PMID:30795984|PMID:30899674|PMID:30971288|PMID:31106297|PMID:31386798|PMID:31419281|PMID:31491741|PMID:31518966|PMID:31589614|PMID:31949048|PMID:31993549|PMID:32044282|PMID:32058034|PMID:32640185|PMID:32719484|PMID:33111339|PMID:33147992|PMID:33173529|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33955087|PMID:34037665|PMID:34074024|PMID:34341098|PMID:34521694|PMID:34526433|PMID:34739847|PMID:35929461 11873486 PCSK9 proprotein convertase subtilisin/kexin type 9 gene DOID:1390 hypobetalipoproteinemia ISO RGD:731023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, FAMILIAL | ClinVar Annotator: match by term: Hypobetalipoproteinemia PMID:11668641|PMID:12175777|PMID:12730697|PMID:14727156|PMID:15358785|PMID:15654334|PMID:15893176|PMID:16183066|PMID:16211558|PMID:16314194|PMID:16424354|PMID:16465619|PMID:16554528|PMID:16571601|PMID:16912035|PMID:17094996|PMID:17140581|PMID:17170371|PMID:17316651|PMID:17380167|PMID:17461796|PMID:17502126|PMID:17765244|PMID:17804797|PMID:17921436|PMID:17971861|PMID:18197702|PMID:18262190|PMID:18266662|PMID:18300938|PMID:18354102|PMID:18559913|PMID:18710658|PMID:18799458|PMID:19001363|PMID:19022446|PMID:19081568|PMID:19191301|PMID:19249440|PMID:19351729|PMID:19797716|PMID:19917273|PMID:20006333|PMID:20031607|PMID:20172854|PMID:20579540|PMID:20623344|PMID:20959675|PMID:21146822|PMID:21943799|PMID:22095935|PMID:22923420|PMID:23095242|PMID:23105118|PMID:23375686|PMID:23386946|PMID:23663650|PMID:23743349|PMID:23935525|PMID:24033266|PMID:24278757|PMID:24507774|PMID:24507775|PMID:24785115|PMID:24808179|PMID:24859021|PMID:25014035|PMID:25046268|PMID:25278291|PMID:25412415|PMID:25600226|PMID:25741868|PMID:25744035|PMID:25904937|PMID:25962062|PMID:26020417|PMID:26049403|PMID:26195630|PMID:26332594|PMID:26374825|PMID:26467025|PMID:26541928|PMID:26546829|PMID:26632531|PMID:26633542|PMID:26636822|PMID:26688439|PMID:26802169|PMID:26937405|PMID:27135400|PMID:27206942|PMID:27218270|PMID:27280970|PMID:27516387|PMID:27765764|PMID:27919364|PMID:28008010|PMID:28179607|PMID:28302345|PMID:28323660|PMID:28360401|PMID:28438747|PMID:28492532|PMID:28587771|PMID:28768753|PMID:28777095|PMID:28784313|PMID:28965616|PMID:28994502|PMID:29083407|PMID:29127338|PMID:29259136|PMID:29261184|PMID:29438441|PMID:29459468|PMID:29593013|PMID:29724976|PMID:29748315|PMID:29997226|PMID:30241732|PMID:30270359|PMID:30293936|PMID:30971288|PMID:31106297|PMID:31491741|PMID:31949048|PMID:32044282|PMID:32058034|PMID:32719484|PMID:33147992|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33418990|PMID:34074024|PMID:34521694|PMID:34526433|PMID:35929461 11873486 PCSK9 proprotein convertase subtilisin/kexin type 9 gene DOID:3393 coronary artery disease ISO RGD:731023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990|PMID:27135400 11873486 PCSK9 proprotein convertase subtilisin/kexin type 9 gene DOID:630 genetic disease ISO RGD:731023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11873486 PCSK9 proprotein convertase subtilisin/kexin type 9 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:731023 D RGD:9068941 20200609 RGD DNA:missense mutation, nonsense mutations:cds:p.R46L, p.Y142X, p.C679X (human) PMID:16554528|REF_RGD_ID:1581000 11873486 PCSK9 proprotein convertase subtilisin/kexin type 9 gene DOID:9000808 Hypercholesterolemia ISO RGD:731023 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia PMID:16183066|PMID:16571601|PMID:16912035|PMID:17380167|PMID:17765244|PMID:19081568|PMID:19191301|PMID:23375686|PMID:24033266|PMID:24808179|PMID:25741868|PMID:26374825|PMID:26633542|PMID:27206942|PMID:27280970|PMID:28008010|PMID:28492532|PMID:28777095|PMID:28994502|PMID:29259136|PMID:29724976|PMID:30293936|PMID:31491741|PMID:31949048|PMID:32044282|PMID:32058034|PMID:32719484|PMID:33147992|PMID:33269076|PMID:33303402|PMID:34521694|PMID:34526433|PMID:35929461 11873486 PCSK9 proprotein convertase subtilisin/kexin type 9 gene DOID:9002189 High Myopia ISO RGD:731023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:25741868 11873486 PCSK9 proprotein convertase subtilisin/kexin type 9 gene DOID:9005308 Hypercholesterolemia, Autosomal Dominant, 3 ISO RGD:731023 D RGD:7240710 20180130 OMIM 11873486 PCSK9 proprotein convertase subtilisin/kexin type 9 gene DOID:9005308 Hypercholesterolemia, Autosomal Dominant, 3 ISO RGD:731023 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia 3 | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 PMID:10357843|PMID:10764678|PMID:11668641|PMID:12175777|PMID:12730697|PMID:14727156|PMID:14727179|PMID:15099351|PMID:15166014|PMID:15358785|PMID:15654334|PMID:15772090|PMID:15893176|PMID:16183066|PMID:16211558|PMID:16224054|PMID:16314194|PMID:16424354|PMID:16465619|PMID:16554528|PMID:16571601|PMID:16777760|PMID:16909389|PMID:16912035|PMID:16989838|PMID:17094996|PMID:17140581|PMID:17170371|PMID:17316651|PMID:17380167|PMID:17435765|PMID:17461796|PMID:17502126|PMID:17576681|PMID:17599443|PMID:17765244|PMID:17765246|PMID:17804797|PMID:17921436|PMID:17971861|PMID:18028451|PMID:18039650|PMID:18197702|PMID:18250299|PMID:18262190|PMID:18266662|PMID:18300938|PMID:18354102|PMID:18436227|PMID:18559913|PMID:18631360|PMID:18652535|PMID:18710658|PMID:18718593|PMID:18799458|PMID:19001363|PMID:19022446|PMID:19081568|PMID:19191301|PMID:19249440|PMID:19351729|PMID:19571328|PMID:19762784|PMID:19768174|PMID:19797716|PMID:19917273|PMID:20006333|PMID:20031607|PMID:20172854|PMID:20538126|PMID:20579540|PMID:20623344|PMID:20959675|PMID:21146822|PMID:21147780|PMID:21376320|PMID:21502677|PMID:21943799|PMID:22095935|PMID:22344438|PMID:22417841|PMID:22683120|PMID:22875854|PMID:22923420|PMID:22995991|PMID:23064986|PMID:23095242|PMID:23105118|PMID:23247049|PMID:23375686|PMID:23386946|PMID:23535506|PMID:23555291|PMID:23663650|PMID:23680767|PMID:23743349|PMID:23935525|PMID:24033266|PMID:24115837|PMID:24278757|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24785115|PMID:24793346|PMID:24808179|PMID:24859021|PMID:25014035|PMID:25046268|PMID:25278291|PMID:25412415|PMID:25525159|PMID:25600226|PMID:25741868|PMID:25744035|PMID:25904937|PMID:25962062|PMID:25985138|PMID:26020417|PMID:26036859|PMID:26049403|PMID:26195630|PMID:26332594|PMID:26343872|PMID:26374825|PMID:26467025|PMID:26541928|PMID:26546829|PMID:26632531|PMID:26633542|PMID:26636822|PMID:26688439|PMID:26690388|PMID:26802169|PMID:26937405|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27206942|PMID:27218270|PMID:27280970|PMID:27422940|PMID:27516387|PMID:27602404|PMID:27765764|PMID:27896130|PMID:27919364|PMID:27998977|PMID:28008010|PMID:28166811|PMID:28179607|PMID:28302345|PMID:28323660|PMID:28349888|PMID:28360401|PMID:28438747|PMID:28492532|PMID:28521186|PMID:28587771|PMID:28768753|PMID:28777095|PMID:28784313|PMID:28965616|PMID:28994502|PMID:29036232|PMID:29083407|PMID:29127338|PMID:29259136|PMID:29261184|PMID:29399563|PMID:29438441|PMID:29459468|PMID:29593013|PMID:29724976|PMID:29748315|PMID:29982529|PMID:29997226|PMID:30227170|PMID:30241732|PMID:30269829|PMID:30270359|PMID:30293936|PMID:30487145|PMID:30526649|PMID:30726226|PMID:30779729|PMID:30795984|PMID:30899674|PMID:30971288|PMID:31106297|PMID:31386798|PMID:31419281|PMID:31491741|PMID:31518966|PMID:31589614|PMID:31949048|PMID:31993549|PMID:32044282|PMID:32058034|PMID:32640185|PMID:32719484|PMID:33147992|PMID:33173529|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33955087|PMID:34037665|PMID:34074024|PMID:34341098|PMID:34521694|PMID:34526433|PMID:35929461|PMID:9536098 11873486 PCSK9 proprotein convertase subtilisin/kexin type 9 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:731023 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B PMID:11668641|PMID:12175777|PMID:12730697|PMID:14727156|PMID:15358785|PMID:15654334|PMID:15893176|PMID:16183066|PMID:16211558|PMID:16424354|PMID:16465619|PMID:16554528|PMID:16571601|PMID:16912035|PMID:17140581|PMID:17170371|PMID:17316651|PMID:17380167|PMID:17461796|PMID:17502126|PMID:17765244|PMID:17804797|PMID:17971861|PMID:18197702|PMID:18262190|PMID:18266662|PMID:18300938|PMID:18354102|PMID:18710658|PMID:18718593|PMID:18799458|PMID:19001363|PMID:19022446|PMID:19081568|PMID:19191301|PMID:19351729|PMID:19797716|PMID:19917273|PMID:20006333|PMID:20031607|PMID:20172854|PMID:20579540|PMID:20623344|PMID:20959675|PMID:21146822|PMID:21722902|PMID:21943799|PMID:22095935|PMID:22923420|PMID:22995991|PMID:23064986|PMID:23095242|PMID:23105118|PMID:23247049|PMID:23375686|PMID:23386946|PMID:23535506|PMID:23663650|PMID:23680767|PMID:23743349|PMID:23935525|PMID:24033266|PMID:24507774|PMID:24507775|PMID:24793346|PMID:24808179|PMID:24859021|PMID:25014035|PMID:25046268|PMID:25278291|PMID:25412415|PMID:25741868|PMID:25744035|PMID:25904937|PMID:25962062|PMID:26020417|PMID:26049403|PMID:26195630|PMID:26332594|PMID:26374825|PMID:26467025|PMID:26541928|PMID:26546829|PMID:26632531|PMID:26633542|PMID:26636822|PMID:26937405|PMID:27135400|PMID:27206942|PMID:27218270|PMID:27280970|PMID:27516387|PMID:27765764|PMID:27919364|PMID:28008010|PMID:28179607|PMID:28302345|PMID:28323660|PMID:28349888|PMID:28360401|PMID:28438747|PMID:28492532|PMID:28587771|PMID:28768753|PMID:28777095|PMID:28784313|PMID:28965616|PMID:28994502|PMID:29036232|PMID:29083407|PMID:29127338|PMID:29259136|PMID:29261184|PMID:29386597|PMID:29459468|PMID:29593013|PMID:29724976|PMID:29982529|PMID:29997226|PMID:30241732|PMID:30293936|PMID:30526649|PMID:30779729|PMID:31106297|PMID:31491741|PMID:31949048|PMID:31993549|PMID:32044282|PMID:32058034|PMID:32719484|PMID:33147992|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33955087|PMID:34037665|PMID:34074024|PMID:34521694|PMID:34526433|PMID:35929461 11873486 PCSK9 proprotein convertase subtilisin/kexin type 9 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:731023 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B PMID:11668641|PMID:12175777|PMID:12730697|PMID:14727156|PMID:15358785|PMID:15654334|PMID:15893176|PMID:16183066|PMID:16211558|PMID:16314194|PMID:16424354|PMID:16465619|PMID:16554528|PMID:16571601|PMID:16912035|PMID:17094996|PMID:17140581|PMID:17170371|PMID:17316651|PMID:17380167|PMID:17461796|PMID:17502126|PMID:17765244|PMID:17804797|PMID:17971861|PMID:18197702|PMID:18262190|PMID:18266662|PMID:18300938|PMID:18354102|PMID:18710658|PMID:18718593|PMID:18799458|PMID:19001363|PMID:19022446|PMID:19081568|PMID:19191301|PMID:19351729|PMID:19797716|PMID:19917273|PMID:20006333|PMID:20031607|PMID:20172854|PMID:20579540|PMID:20623344|PMID:20959675|PMID:21146822|PMID:21722902|PMID:21943799|PMID:22095935|PMID:22923420|PMID:22995991|PMID:23064986|PMID:23095242|PMID:23105118|PMID:23247049|PMID:23375686|PMID:23386946|PMID:23535506|PMID:23663650|PMID:23680767|PMID:23743349|PMID:23935525|PMID:24033266|PMID:24507774|PMID:24507775|PMID:24793346|PMID:24808179|PMID:24859021|PMID:25014035|PMID:25046268|PMID:25278291|PMID:25412415|PMID:25741868|PMID:25744035|PMID:25904937|PMID:25962062|PMID:26020417|PMID:26049403|PMID:26195630|PMID:26332594|PMID:26374825|PMID:26467025|PMID:26541928|PMID:26546829|PMID:26632531|PMID:26633542|PMID:26636822|PMID:26688439|PMID:26937405|PMID:27135400|PMID:27206942|PMID:27218270|PMID:27280970|PMID:27516387|PMID:27765764|PMID:27919364|PMID:28008010|PMID:28179607|PMID:28302345|PMID:28323660|PMID:28349888|PMID:28360401|PMID:28438747|PMID:28492532|PMID:28587771|PMID:28768753|PMID:28777095|PMID:28784313|PMID:28965616|PMID:28994502|PMID:29036232|PMID:29083407|PMID:29127338|PMID:29259136|PMID:29261184|PMID:29386597|PMID:29459468|PMID:29593013|PMID:29724976|PMID:29982529|PMID:29997226|PMID:30241732|PMID:30293936|PMID:30526649|PMID:30779729|PMID:31106297|PMID:31491741|PMID:31589614|PMID:31949048|PMID:31993549|PMID:32044282|PMID:32058034|PMID:32719484|PMID:33147992|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33955087|PMID:34037665|PMID:34074024|PMID:34521694|PMID:34526433|PMID:35929461 11873486 PCSK9 proprotein convertase subtilisin/kexin type 9 gene DOID:9005519 Hyperlipoproteinemia Type II severity ISO RGD:731023 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.D374Y (human) PMID:15772090|REF_RGD_ID:1581001 11873486 PCSK9 proprotein convertase subtilisin/kexin type 9 gene DOID:9007751 Hypocholesterolemia ISO RGD:731023 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hypocholesterolemia PMID:15654334|PMID:16424354|PMID:16465619|PMID:16554528|PMID:16571601|PMID:16909389|PMID:16912035|PMID:16989838|PMID:17599443|PMID:18354102|PMID:18652535|PMID:19351729|PMID:19797716|PMID:19917273|PMID:20031607|PMID:20579540|PMID:22875854|PMID:23743349|PMID:24507774|PMID:25278291|PMID:25412415|PMID:25741868|PMID:26049403|PMID:26467025|PMID:27135400|PMID:27218270|PMID:27280970|PMID:27602404|PMID:27765764|PMID:28492532|PMID:28768753|PMID:28965616|PMID:29083407|PMID:29261184|PMID:29997226|PMID:30227170|PMID:30726226|PMID:30899674 11873508 SLC36A4 solute carrier family 36 member 4 gene DOID:1059 intellectual disability ISO RGD:1323033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11873508 SLC36A4 solute carrier family 36 member 4 gene DOID:630 genetic disease ISO RGD:1323033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873526 GTF3C4 general transcription factor IIIC subunit 4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1349733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11873526 GTF3C4 general transcription factor IIIC subunit 4 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1349733 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:25741868|PMID:28492532 11873526 GTF3C4 general transcription factor IIIC subunit 4 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1349733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11873526 GTF3C4 general transcription factor IIIC subunit 4 gene DOID:0081097 Rafiq syndrome ISO RGD:1349733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11873526 GTF3C4 general transcription factor IIIC subunit 4 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1349733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11873526 GTF3C4 general transcription factor IIIC subunit 4 gene DOID:3652 Leigh disease ISO RGD:1349733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11873526 GTF3C4 general transcription factor IIIC subunit 4 gene DOID:630 genetic disease ISO RGD:1349733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873536 NETO2 neuropilin and tolloid like 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1313264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11873536 NETO2 neuropilin and tolloid like 2 gene DOID:0080600 COVID-19 ISO RGD:1313264 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11873536 NETO2 neuropilin and tolloid like 2 gene DOID:0111041 glycogen storage disease IXb ISO RGD:1313264 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 11873536 NETO2 neuropilin and tolloid like 2 gene DOID:10283 prostate cancer ISO RGD:1313264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11873536 NETO2 neuropilin and tolloid like 2 gene DOID:630 genetic disease ISO RGD:1313264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873536 NETO2 neuropilin and tolloid like 2 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1313264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:0060058 lymphoma ISO RGD:1322684 D RGD:9068941 20220812 RGD DNA:missense mutation:CDS p.D140E (rs7479004) (human) PMID:25407497|REF_RGD_ID:153323305 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1322684 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1322684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:0111621 Temtamy syndrome ISO RGD:1322684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:1059 intellectual disability ISO RGD:1322684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:12849 autistic disorder ISO RGD:1322684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30559488 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:1324 lung cancer ISO RGD:1322684 D RGD:9068941 20220812 RGD DNA:missense mutation:CDS p.D140E (rs7479004) (human) PMID:25407497|REF_RGD_ID:153323305 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:1324 lung cancer ameliorates ISO RGD:1322684 D RGD:9068941 20220812 RGD mRNA:increased expression:lung (human) PMID:30031117|REF_RGD_ID:153323309 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:1612 breast cancer ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:increased expression:breast (human) PMID:28486105|REF_RGD_ID:153323299 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:1993 rectum cancer ISO RGD:1322684 D RGD:9068941 20220812 RGD DNA:missense mutation:CDS p.D140E (rs7479004) (human) PMID:25407497|REF_RGD_ID:153323305 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:1996 rectum adenocarcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:increased expression:rectum (human) PMID:28486105|REF_RGD_ID:153323299 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:1322684 D RGD:9068941 20220811 RGD human cells in a mouse model PMID:28486105|REF_RGD_ID:153323299 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:2526 prostate adenocarcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:decreased expression:prostate gland (human) PMID:28486105|REF_RGD_ID:153323299 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:2876 laryngeal squamous cell carcinoma exacerbates ISO RGD:1322684 D RGD:9068941 20220812 RGD mRNA:increased expression:larynx (human) PMID:33315534|REF_RGD_ID:153323310 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:increased expression:lung (human) PMID:28486105|REF_RGD_ID:153323299 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:increased expression:lung (human) PMID:28486105|REF_RGD_ID:153323299 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1322684 D RGD:9068941 20220812 RGD human cells in a mouse model PMID:32228507|REF_RGD_ID:153323307 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1322684 D RGD:9068941 20220812 RGD DNA:missense mutation:CDS:p.D140E (rs7479004) (human) PMID:29667179|REF_RGD_ID:151660359 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:decreased expression:kidney (human) PMID:28486105|REF_RGD_ID:153323299 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:5419 schizophrenia ISO RGD:1322684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:increased expression:head or neck skin (human) PMID:28486105|REF_RGD_ID:153323299 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:630 genetic disease ISO RGD:1322684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20693977|PMID:22302795|PMID:24348274|PMID:25849321|PMID:26116663|PMID:27418512|PMID:27479907|PMID:27616479|PMID:28135719|PMID:28492532|PMID:9536098 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:increased expression:liver (human) PMID:28486105|REF_RGD_ID:153323299 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1322684 D RGD:9068941 20220812 RGD mRNA:increased expression:liver (human) PMID:32070428|REF_RGD_ID:153323308 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1322684 D RGD:9068941 20220812 RGD protein:increased expression:liver (human) PMID:26095183|REF_RGD_ID:11571740 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:9000217 Stomach Neoplasms ISO RGD:1322684 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35362730 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1322684 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35362730 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:9005172 Lung Neoplasms ISO RGD:1322684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30008631 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:9006618 Liver Metastasis ameliorates ISO RGD:1322684 D RGD:9068941 20220811 RGD associated with human colon adenocarcinoma cells in a mouse model PMID:28486105|REF_RGD_ID:153323299 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:9006728 Triple Negative Breast Neoplasms exacerbates ISO RGD:1322684 D RGD:9068941 20220812 RGD protein:increased expression:breast (human) PMID:29305962|REF_RGD_ID:153323306 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1322684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1322684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1322684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:9008154 SIFRIM-HITZ-WEISS SYNDROME ISO RGD:1322684 D RGD:7240710 20190315 OMIM 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:9008154 SIFRIM-HITZ-WEISS SYNDROME ISO RGD:1322684 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CHD4-Related Disorder | ClinVar Annotator: match by term: Sifrim-Hitz-Weiss syndrome PMID:25741868|PMID:27616479|PMID:28492532|PMID:31388190 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:9009121 lung metastasis ameliorates ISO RGD:1322684 D RGD:9068941 20220811 RGD associated with human colon adenocarcinoma cells in a mouse model PMID:28486105|REF_RGD_ID:153323299 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:9256 colorectal cancer ISO RGD:1322684 D RGD:9068941 20220812 RGD PMID:28486105|REF_RGD_ID:153323299 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1322684 D RGD:9068941 20220812 RGD mRNA:increased expression:lymph node (human) PMID:29467924|REF_RGD_ID:153323304 11873561 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:936 brain disease ISO RGD:1322684 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 11873628 ETFBKMT electron transfer flavoprotein subunit beta lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1602640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873644 LOC100977781 protein HIRA gene DOID:0060041 autism spectrum disorder ISO RGD:1346310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11873644 LOC100977781 protein HIRA gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1346310 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 11873644 LOC100977781 protein HIRA gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1346310 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 11873644 LOC100977781 protein HIRA gene DOID:0111996 immunodeficiency 51 ISO RGD:1346310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11873644 LOC100977781 protein HIRA gene DOID:10283 prostate cancer ISO RGD:1346310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11873644 LOC100977781 protein HIRA gene DOID:1059 intellectual disability ISO RGD:1346310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11873644 LOC100977781 protein HIRA gene DOID:11198 DiGeorge syndrome ISO RGD:1346310 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 11873644 LOC100977781 protein HIRA gene DOID:11372 megacolon ISO RGD:1346310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11873644 LOC100977781 protein HIRA gene DOID:12583 velocardiofacial syndrome ISO RGD:1346310 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 11873644 LOC100977781 protein HIRA gene DOID:12849 autistic disorder ISO RGD:1346310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11873644 LOC100977781 protein HIRA gene DOID:1826 epilepsy ISO RGD:1346310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11873644 LOC100977781 protein HIRA gene DOID:5419 schizophrenia ISO RGD:1346310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11873644 LOC100977781 protein HIRA gene DOID:612 primary immunodeficiency disease ISO RGD:1346310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11873644 LOC100977781 protein HIRA gene DOID:630 genetic disease ISO RGD:1346310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11873644 LOC100977781 protein HIRA gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11873644 LOC100977781 protein HIRA gene DOID:9007661 Dwarfism ISO RGD:1346310 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11873644 LOC100977781 protein HIRA gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1346310 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11873693 IFI16 interferon gamma inducible protein 16 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1344171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11873693 IFI16 interferon gamma inducible protein 16 gene DOID:1540 parathyroid carcinoma ISO RGD:1344171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11873693 IFI16 interferon gamma inducible protein 16 gene DOID:630 genetic disease ISO RGD:1344171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873693 IFI16 interferon gamma inducible protein 16 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1557521 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11873693 IFI16 interferon gamma inducible protein 16 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11873715 TBC1D13 TBC1 domain family member 13 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1318412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11873715 TBC1D13 TBC1 domain family member 13 gene DOID:630 genetic disease ISO RGD:1318412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873731 TDRD7 tudor domain containing 7 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1350621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 11873731 TDRD7 tudor domain containing 7 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1350621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 11873731 TDRD7 tudor domain containing 7 gene DOID:0110247 cataract 36 ISO RGD:1350621 D RGD:7240710 20180130 OMIM 11873731 TDRD7 tudor domain containing 7 gene DOID:0110247 cataract 36 ISO RGD:1350621 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cataract 36 PMID:25741868|PMID:28418495|PMID:28492532 11873731 TDRD7 tudor domain containing 7 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1350621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 11873731 TDRD7 tudor domain containing 7 gene DOID:1059 intellectual disability ISO RGD:1350621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11873731 TDRD7 tudor domain containing 7 gene DOID:12336 male infertility ISO RGD:1350621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21436445 11873731 TDRD7 tudor domain containing 7 gene DOID:12712 nephronophthisis ISO RGD:1350621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 11873731 TDRD7 tudor domain containing 7 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1350621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 11873731 TDRD7 tudor domain containing 7 gene DOID:1686 glaucoma ISO RGD:1350621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21436445 11873731 TDRD7 tudor domain containing 7 gene DOID:630 genetic disease ISO RGD:1350621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11873731 TDRD7 tudor domain containing 7 gene DOID:83 cataract ISO RGD:1350621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract 11873731 TDRD7 tudor domain containing 7 gene DOID:9001488 Human Influenza ISO RGD:1350621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11873731 TDRD7 tudor domain containing 7 gene DOID:9001793 Generalized Epilepsy ISO RGD:1350621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 11873751 LOC100980585 cytochrome b-245 chaperone 1 gene DOID:0070368 autosomal recessive chronic granulomatous disease 5 ISO RGD:1606782 D RGD:7240710 20200722 OMIM 11873751 LOC100980585 cytochrome b-245 chaperone 1 gene DOID:0070368 autosomal recessive chronic granulomatous disease 5 ISO RGD:1606782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, 5 PMID:17576681|PMID:28492532|PMID:28600779|PMID:30312704|PMID:30361506|PMID:9536098 11873777 TLR4 toll like receptor 4 gene DOID:0050073 invasive aspergillosis susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.D299G(human) PMID:18275280|REF_RGD_ID:5130863 11873777 TLR4 toll like receptor 4 gene DOID:0050127 sinusitis ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium: PMID:14743629|REF_RGD_ID:8552991 11873777 TLR4 toll like receptor 4 gene DOID:0050127 sinusitis ISO RGD:737014 D RGD:9068941 20200609 RGD associated with Pneumococal Infections; PMID:16301373|REF_RGD_ID:7800729 11873777 TLR4 toll like receptor 4 gene DOID:0050855 renal fibrosis ISO RGD:3870 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:22777483|REF_RGD_ID:7207895 11873777 TLR4 toll like receptor 4 gene DOID:0060180 colitis ISO RGD:3870 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:19002562|REF_RGD_ID:2312573 11873777 TLR4 toll like receptor 4 gene DOID:0060180 colitis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:19924809|REF_RGD_ID:7794773 11873777 TLR4 toll like receptor 4 gene DOID:0060189 ileitis ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:18266231|REF_RGD_ID:2312714 11873777 TLR4 toll like receptor 4 gene DOID:0060189 ileitis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:17255219|REF_RGD_ID:7241089 11873777 TLR4 toll like receptor 4 gene DOID:0060322 mastoiditis ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: PMID:24690988|REF_RGD_ID:8552995 11873777 TLR4 toll like receptor 4 gene DOID:0060496 respiratory allergy ISO RGD:737013 D RGD:9068941 20200827 CTD CTD Direct Evidence: marker/mechanism PMID:10835634 11873777 TLR4 toll like receptor 4 gene DOID:0060496 respiratory allergy susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms,haplotype: :−2027A>G, ¿1608T>C(human) PMID:21704886|REF_RGD_ID:7800728 11873777 TLR4 toll like receptor 4 gene DOID:0080158 herpes simplex virus keratitis ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA:increased expression:cornea: PMID:17667620|REF_RGD_ID:8552970 11873777 TLR4 toll like receptor 4 gene DOID:0080158 herpes simplex virus keratitis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:17686871|REF_RGD_ID:7794851 11873777 TLR4 toll like receptor 4 gene DOID:0080176 meningococcal meningitis susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :896A>G(rs4986790)(human) PMID:23691182|REF_RGD_ID:7800668 11873777 TLR4 toll like receptor 4 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:23301938|REF_RGD_ID:7777122 11873777 TLR4 toll like receptor 4 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:22253482|REF_RGD_ID:14700656 11873777 TLR4 toll like receptor 4 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:25413054|REF_RGD_ID:14700658 11873777 TLR4 toll like receptor 4 gene DOID:0080784 urinary tract infection susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:snp:cds:p.D299G (human) PMID:19543401|REF_RGD_ID:7246906 11873777 TLR4 toll like receptor 4 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:16524509|REF_RGD_ID:2312724 11873777 TLR4 toll like receptor 4 gene DOID:0081013 severe COVID-19 ISO RGD:737013 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to severe COVID-19 11873777 TLR4 toll like receptor 4 gene DOID:10140 dry eye syndrome ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:23372055|REF_RGD_ID:8552916 11873777 TLR4 toll like receptor 4 gene DOID:10140 dry eye syndrome ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:23372055|REF_RGD_ID:8552916 11873777 TLR4 toll like receptor 4 gene DOID:10223 dermatomyositis ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:muscle PMID:19953283|REF_RGD_ID:7794747 11873777 TLR4 toll like receptor 4 gene DOID:10310 viral meningitis ISO RGD:737014 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:12781911|REF_RGD_ID:7794740 11873777 TLR4 toll like receptor 4 gene DOID:10591 pre-eclampsia ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:16157088|REF_RGD_ID:1580682 11873777 TLR4 toll like receptor 4 gene DOID:106 pleural tuberculosis ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:18295348|REF_RGD_ID:4144193 11873777 TLR4 toll like receptor 4 gene DOID:10652 Alzheimer's disease ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:16157451|REF_RGD_ID:1580680 11873777 TLR4 toll like receptor 4 gene DOID:10690 mastitis ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:mammary gland: PMID:21691936|REF_RGD_ID:7777124 11873777 TLR4 toll like receptor 4 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotype:multiple: PMID:22831837|REF_RGD_ID:7794768 11873777 TLR4 toll like receptor 4 gene DOID:1074 kidney failure ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:16177646|REF_RGD_ID:7241085 11873777 TLR4 toll like receptor 4 gene DOID:1074 kidney failure ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27585667 11873777 TLR4 toll like receptor 4 gene DOID:10754 otitis media ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:middle ear: PMID:23380629|REF_RGD_ID:7800666 11873777 TLR4 toll like receptor 4 gene DOID:10754 otitis media ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: PMID:24690988|REF_RGD_ID:8552995 11873777 TLR4 toll like receptor 4 gene DOID:10754 otitis media ISO RGD:737014 D RGD:9068941 20200609 RGD associated with Haemophilus Infections; PMID:19586996|REF_RGD_ID:7777086 11873777 TLR4 toll like receptor 4 gene DOID:10763 hypertension ISO RGD:737013 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:27292124|PMID:32147540 11873777 TLR4 toll like receptor 4 gene DOID:10825 essential hypertension ISO RGD:737013 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 11873777 TLR4 toll like receptor 4 gene DOID:10964 cholesteatoma of middle ear ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: PMID:24690988|REF_RGD_ID:8552995 11873777 TLR4 toll like receptor 4 gene DOID:11054 urinary bladder cancer treatment ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:19788935|REF_RGD_ID:7240556 11873777 TLR4 toll like receptor 4 gene DOID:11121 pulpitis ISO RGD:3870 D RGD:9068941 20200609 RGD protein:increased expression:ganglion: PMID:24267924|REF_RGD_ID:7777125 11873777 TLR4 toll like receptor 4 gene DOID:11168 anogenital venereal wart ISO RGD:737013 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 11873777 TLR4 toll like receptor 4 gene DOID:11204 allergic conjunctivitis ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:conjunctiva: PMID:16023216|REF_RGD_ID:7794849 11873777 TLR4 toll like receptor 4 gene DOID:11204 allergic conjunctivitis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:21391988|PMID:21820713|REF_RGD_ID:7777131|REF_RGD_ID:7794770 11873777 TLR4 toll like receptor 4 gene DOID:11396 pulmonary edema ISO RGD:737014 D RGD:9068941 20200609 RGD associated with reperfusion injury PMID:19376887|REF_RGD_ID:4144136 11873777 TLR4 toll like receptor 4 gene DOID:11446 sciatic neuropathy ISO RGD:737014 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord: PMID:18615568|REF_RGD_ID:7815041 11873777 TLR4 toll like receptor 4 gene DOID:11506 suppurative otitis media ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:mucosa: PMID:22883581|REF_RGD_ID:7800662 11873777 TLR4 toll like receptor 4 gene DOID:11823 hepatorenal syndrome ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:18093430|REF_RGD_ID:4144102 11873777 TLR4 toll like receptor 4 gene DOID:1214 tympanosclerosis ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:D299G(human) PMID:19398177|REF_RGD_ID:7800656 11873777 TLR4 toll like receptor 4 gene DOID:12306 vitiligo susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.D299G(human) PMID:22429552|REF_RGD_ID:7777152 11873777 TLR4 toll like receptor 4 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNPs:cds:p.D299G, T399I (human) PMID:17709532|REF_RGD_ID:4144161 11873777 TLR4 toll like receptor 4 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:19019963|REF_RGD_ID:4889534 11873777 TLR4 toll like receptor 4 gene DOID:1273 respiratory syncytial virus infectious disease no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.D299G (human) PMID:17449325|REF_RGD_ID:4144164 11873777 TLR4 toll like receptor 4 gene DOID:1273 respiratory syncytial virus infectious disease susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.D259G, T359I (human) PMID:17264400|REF_RGD_ID:4144167 11873777 TLR4 toll like receptor 4 gene DOID:13001 carotid stenosis treatment ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:22167462|REF_RGD_ID:7241095 11873777 TLR4 toll like receptor 4 gene DOID:13078 eumycotic mycetoma ISO RGD:737014 D RGD:9068941 20200609 RGD mRNA:decreased expression:footpad: PMID:21205004|REF_RGD_ID:7794752 11873777 TLR4 toll like receptor 4 gene DOID:13141 uveitis ISO RGD:3870 D RGD:9068941 20200609 RGD protein:increased expression:iris PMID:19347047|REF_RGD_ID:2312506 11873777 TLR4 toll like receptor 4 gene DOID:13241 Behcet's disease ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA:increased expression:intestine: PMID:18336589|REF_RGD_ID:8552915 11873777 TLR4 toll like receptor 4 gene DOID:13241 Behcet's disease ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA:increased expression:mononulcear cell: PMID:18234118|REF_RGD_ID:7777175 11873777 TLR4 toll like receptor 4 gene DOID:13241 Behcet's disease no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism: :1896A>G,11196C>T(human) PMID:19796535|REF_RGD_ID:8552888 11873777 TLR4 toll like receptor 4 gene DOID:13241 Behcet's disease susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNP:3'UTR: rs7037117(human) PMID:18408113|REF_RGD_ID:7777176 11873777 TLR4 toll like receptor 4 gene DOID:13375 temporal arteritis no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism: :896A>G,1196C>T(human) PMID:21586524|REF_RGD_ID:7777159 11873777 TLR4 toll like receptor 4 gene DOID:13375 temporal arteritis susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism: :896A>G(rs4986790)(human) PMID:19531762|REF_RGD_ID:7777158 11873777 TLR4 toll like receptor 4 gene DOID:13378 Kawasaki disease ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA:increased expression:monocyte: PMID:18353240|REF_RGD_ID:7777156 11873777 TLR4 toll like receptor 4 gene DOID:13544 low tension glaucoma no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms:multiple: PMID:21921986|REF_RGD_ID:7794769 11873777 TLR4 toll like receptor 4 gene DOID:13544 low tension glaucoma susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotype:multiple: PMID:22831837|REF_RGD_ID:7794768 11873777 TLR4 toll like receptor 4 gene DOID:13619 extrahepatic cholestasis ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 11873777 TLR4 toll like receptor 4 gene DOID:13641 exfoliation syndrome susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:haplotype:: PMID:22831837|REF_RGD_ID:7794768 11873777 TLR4 toll like receptor 4 gene DOID:1407 anterior uveitis ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:17389503|REF_RGD_ID:8552823 11873777 TLR4 toll like receptor 4 gene DOID:1407 anterior uveitis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:21264236|REF_RGD_ID:7794836 11873777 TLR4 toll like receptor 4 gene DOID:14484 sporotrichosis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:19740386|REF_RGD_ID:7794681 11873777 TLR4 toll like receptor 4 gene DOID:1485 cystic fibrosis ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:20717938|REF_RGD_ID:4144105 11873777 TLR4 toll like receptor 4 gene DOID:1485 cystic fibrosis severity ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:20522639|REF_RGD_ID:4144179 11873777 TLR4 toll like receptor 4 gene DOID:1495 cystic echinococcosis ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood monocyte: PMID:21923667|REF_RGD_ID:18182935 11873777 TLR4 toll like receptor 4 gene DOID:1612 breast cancer no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNP: :c.896A>G(human) PMID:19810822|REF_RGD_ID:7794746 11873777 TLR4 toll like receptor 4 gene DOID:1612 breast cancer susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism: :3725G>C(human) PMID:23510418|REF_RGD_ID:7777160 11873777 TLR4 toll like receptor 4 gene DOID:1612 breast cancer susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.N299G(human) PMID:22560646|REF_RGD_ID:7794753 11873777 TLR4 toll like receptor 4 gene DOID:1749 squamous cell carcinoma ISO RGD:737013 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 11873777 TLR4 toll like receptor 4 gene DOID:1909 melanoma ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842228 11873777 TLR4 toll like receptor 4 gene DOID:1909 melanoma ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms:exons:p.D299G (896A>G)(human;) PMID:22552381|REF_RGD_ID:7777154 11873777 TLR4 toll like receptor 4 gene DOID:1936 atherosclerosis ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12124407 11873777 TLR4 toll like receptor 4 gene DOID:2297 leptospirosis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:16428731|PMID:19635914|REF_RGD_ID:7240557|REF_RGD_ID:7241090 11873777 TLR4 toll like receptor 4 gene DOID:2316 brain ischemia no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.N299G, p.T399I (human) PMID:15258789|REF_RGD_ID:1580737 11873777 TLR4 toll like receptor 4 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNP: :c.896A>G (human) PMID:16890863|REF_RGD_ID:1624159 11873777 TLR4 toll like receptor 4 gene DOID:2377 multiple sclerosis ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebrospinal fluid, mononuclear cell PMID:18644848|REF_RGD_ID:2312575 11873777 TLR4 toll like receptor 4 gene DOID:2773 contact dermatitis ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18725520 11873777 TLR4 toll like receptor 4 gene DOID:2841 asthma ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNPs:: PMID:20685742|REF_RGD_ID:4144171 11873777 TLR4 toll like receptor 4 gene DOID:2841 asthma ISO RGD:737013 D RGD:9068941 20200609 RGD protein:decreased expression:leukocytes, mononuclear PMID:19067129|REF_RGD_ID:4144190 11873777 TLR4 toll like receptor 4 gene DOID:2841 asthma ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:19330007|PMID:20628601|REF_RGD_ID:4144141|REF_RGD_ID:4144176 11873777 TLR4 toll like receptor 4 gene DOID:2841 asthma no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNPs: :rs10983755, rs1927914 (human) PMID:19159017|REF_RGD_ID:4144188 11873777 TLR4 toll like receptor 4 gene DOID:2841 asthma severity ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:c.896A>G, 1196C>T (human) PMID:16266379|REF_RGD_ID:4144198 11873777 TLR4 toll like receptor 4 gene DOID:2841 asthma susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:Polymorphism:cds:p.D299G (human) PMID:15356557|REF_RGD_ID:4144817 11873777 TLR4 toll like receptor 4 gene DOID:2913 acute pancreatitis ISO RGD:737014 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:18436016|REF_RGD_ID:14697701 11873777 TLR4 toll like receptor 4 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:737014 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (mouse) PMID:18256364|REF_RGD_ID:7246909 11873777 TLR4 toll like receptor 4 gene DOID:2921 glomerulonephritis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:16849506|PMID:20844472|REF_RGD_ID:4144104|REF_RGD_ID:7241071 11873777 TLR4 toll like receptor 4 gene DOID:2957 pulmonary tuberculosis ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:18008256|REF_RGD_ID:4144205 11873777 TLR4 toll like receptor 4 gene DOID:2957 pulmonary tuberculosis severity ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds: p. D299F, T399I (human) PMID:20403143|REF_RGD_ID:4144106 11873777 TLR4 toll like receptor 4 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNP:intron: rs5030729 (human) PMID:19575238|REF_RGD_ID:4144122 11873777 TLR4 toll like receptor 4 gene DOID:2987 familial Mediterranean fever susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.D299G(human) PMID:19445990|REF_RGD_ID:7794686 11873777 TLR4 toll like receptor 4 gene DOID:3021 acute kidney failure ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29286200 11873777 TLR4 toll like receptor 4 gene DOID:3021 acute kidney failure ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:16638912|REF_RGD_ID:7241084 11873777 TLR4 toll like receptor 4 gene DOID:3021 acute kidney failure ISO RGD:737014 D RGD:9068941 20200609 RGD associated with Sepsis PMID:22655058|REF_RGD_ID:7207898 11873777 TLR4 toll like receptor 4 gene DOID:3021 acute kidney failure treatment ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:22266601|REF_RGD_ID:6892690 11873777 TLR4 toll like receptor 4 gene DOID:3042 allergic contact dermatitis ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:20711192|REF_RGD_ID:7777133 11873777 TLR4 toll like receptor 4 gene DOID:3042 allergic contact dermatitis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:18725520|REF_RGD_ID:7794737 11873777 TLR4 toll like receptor 4 gene DOID:305 carcinoma ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22180778 11873777 TLR4 toll like receptor 4 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737013 D RGD:9068941 20200609 RGD decreased expression:protein:monocyte PMID:19080469|REF_RGD_ID:4144145 11873777 TLR4 toll like receptor 4 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism:blood cells PMID:20169003|REF_RGD_ID:4144119 11873777 TLR4 toll like receptor 4 gene DOID:3310 atopic dermatitis ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism: :896G>A(human) PMID:23821954|REF_RGD_ID:7794689 11873777 TLR4 toll like receptor 4 gene DOID:3310 atopic dermatitis ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA:increased expression:blood cell: PMID:19764566|REF_RGD_ID:7794745 11873777 TLR4 toll like receptor 4 gene DOID:3393 coronary artery disease ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20524934 11873777 TLR4 toll like receptor 4 gene DOID:3393 coronary artery disease ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:15632890|REF_RGD_ID:1580736 11873777 TLR4 toll like receptor 4 gene DOID:3407 carotid artery disease ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:15258789|REF_RGD_ID:1580737 11873777 TLR4 toll like receptor 4 gene DOID:3770 pulmonary fibrosis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:20610040|REF_RGD_ID:4144177 11873777 TLR4 toll like receptor 4 gene DOID:3770 pulmonary fibrosis ISO RGD:737014 D RGD:9068941 20200609 RGD associated with acute lung injury PMID:20017955|REF_RGD_ID:4144120 11873777 TLR4 toll like receptor 4 gene DOID:3910 lung adenocarcinoma ISO RGD:737013 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 11873777 TLR4 toll like receptor 4 gene DOID:399 tuberculosis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:12218133|REF_RGD_ID:4144821 11873777 TLR4 toll like receptor 4 gene DOID:4448 macular degeneration ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829498 11873777 TLR4 toll like receptor 4 gene DOID:4448 macular degeneration no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNP:: rs4986790(human) PMID:19628747|REF_RGD_ID:7794842 11873777 TLR4 toll like receptor 4 gene DOID:4448 macular degeneration no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNPs: :p.D299G,T399I(human) PMID:18172114|REF_RGD_ID:7794843 11873777 TLR4 toll like receptor 4 gene DOID:4448 macular degeneration susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.D299G(human) PMID:15829498|REF_RGD_ID:7794837 11873777 TLR4 toll like receptor 4 gene DOID:4481 allergic rhinitis ISO RGD:737013 D RGD:9068941 20200609 RGD protein:decreased expression:nasal mucosa: PMID:22577387|REF_RGD_ID:7800740 11873777 TLR4 toll like receptor 4 gene DOID:4481 allergic rhinitis ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:nasal lavage,leukocyte, bone marrow: PMID:22555057|REF_RGD_ID:8552993 11873777 TLR4 toll like receptor 4 gene DOID:4481 allergic rhinitis no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism: :4216G>C(human) PMID:19763595|REF_RGD_ID:4145354 11873777 TLR4 toll like receptor 4 gene DOID:4481 allergic rhinitis severity ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.D299G(human) PMID:22402138|REF_RGD_ID:7800732 11873777 TLR4 toll like receptor 4 gene DOID:4481 allergic rhinitis susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNP: :rs1927911(human) PMID:23639307|REF_RGD_ID:7800736 11873777 TLR4 toll like receptor 4 gene DOID:4481 allergic rhinitis treatment ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:17069098|REF_RGD_ID:7800738 11873777 TLR4 toll like receptor 4 gene DOID:4677 keratitis ISO RGD:737013 D RGD:9068941 20200609 RGD associated with Eye Infections, Fungal;mRNA,protein:increased expression:cornea: PMID:18398706|REF_RGD_ID:8552914 11873777 TLR4 toll like receptor 4 gene DOID:4677 keratitis ISO RGD:737013 D RGD:9068941 20200609 RGD associated with Eye Infections,Fungal;DNA:SNP::rs10983755(human) PMID:24074256|REF_RGD_ID:7794785 11873777 TLR4 toll like receptor 4 gene DOID:4677 keratitis ISO RGD:737014 D RGD:9068941 20200609 RGD associated with Eye Infections, Fungal; mRNA,protein:increased expression:macrophage: PMID:19074808|REF_RGD_ID:7794779 11873777 TLR4 toll like receptor 4 gene DOID:4677 keratitis ISO RGD:737014 D RGD:9068941 20200609 RGD associated with Eye Infections,Fungal; PMID:19875664|REF_RGD_ID:7794845 11873777 TLR4 toll like receptor 4 gene DOID:4914 esophagus adenocarcinoma ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23525077 11873777 TLR4 toll like receptor 4 gene DOID:4989 pancreatitis ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:19260515|REF_RGD_ID:2312507 11873777 TLR4 toll like receptor 4 gene DOID:4989 pancreatitis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:19201771|REF_RGD_ID:4144143 11873777 TLR4 toll like receptor 4 gene DOID:5082 liver cirrhosis ISO RGD:3870 D RGD:9068941 20200609 RGD protein:increased expression:intestine: PMID:27061671|REF_RGD_ID:14697732 11873777 TLR4 toll like receptor 4 gene DOID:5082 liver cirrhosis treatment ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:26809353|REF_RGD_ID:14700654 11873777 TLR4 toll like receptor 4 gene DOID:5082 liver cirrhosis treatment ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:20006396|REF_RGD_ID:18182934 11873777 TLR4 toll like receptor 4 gene DOID:552 pneumonia ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26882889 11873777 TLR4 toll like receptor 4 gene DOID:552 pneumonia ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:20357263|REF_RGD_ID:4142858 11873777 TLR4 toll like receptor 4 gene DOID:5614 eye disease ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:nasal cavity mucosa: PMID:16146574|REF_RGD_ID:8552913 11873777 TLR4 toll like receptor 4 gene DOID:5844 myocardial infarction ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:15864121|REF_RGD_ID:1580734 11873777 TLR4 toll like receptor 4 gene DOID:5844 myocardial infarction ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs1927911, minor allele associated with decreased risk PMID:18549840|REF_RGD_ID:5562819 11873777 TLR4 toll like receptor 4 gene DOID:630 genetic disease ISO RGD:737013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873777 TLR4 toll like receptor 4 gene DOID:6432 pulmonary hypertension ISO RGD:737014 D RGD:9068941 20200609 RGD associated with anoxia PMID:20205596|REF_RGD_ID:4144108 11873777 TLR4 toll like receptor 4 gene DOID:6543 acne no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms:exons:p.D299G,T399I(human) PMID:17033191|REF_RGD_ID:7794754 11873777 TLR4 toll like receptor 4 gene DOID:684 hepatocellular carcinoma ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27022031 11873777 TLR4 toll like receptor 4 gene DOID:684 hepatocellular carcinoma ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:28578348|REF_RGD_ID:14700552 11873777 TLR4 toll like receptor 4 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNP: :rs1057317(human) PMID:25179842|REF_RGD_ID:14700557 11873777 TLR4 toll like receptor 4 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :multiples PMID:21559380|REF_RGD_ID:14700558 11873777 TLR4 toll like receptor 4 gene DOID:7147 ankylosing spondylitis ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA:increased expression:blood cell: PMID:20952467|REF_RGD_ID:7794744 11873777 TLR4 toll like receptor 4 gene DOID:783 end stage renal disease ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:20729266|REF_RGD_ID:7240546 11873777 TLR4 toll like receptor 4 gene DOID:824 periodontitis ISO RGD:737013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pericementitis PMID:10835634|PMID:12124407|PMID:15547160|PMID:15829498|PMID:16879199|PMID:17704786|PMID:26079505|PMID:26174031 11873777 TLR4 toll like receptor 4 gene DOID:848 arthritis susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;DNA:haplotype: : PMID:19395541|REF_RGD_ID:7777177 11873777 TLR4 toll like receptor 4 gene DOID:850 lung disease ISO RGD:3870 D RGD:9068941 20200609 RGD Acute Lung Injury; mRNA, protein:increased expression:lung PMID:19930876|REF_RGD_ID:4144082 11873777 TLR4 toll like receptor 4 gene DOID:850 lung disease ISO RGD:3870 D RGD:9068941 20200609 RGD associated with Pancreatitis, Acute Necrotizing PMID:16286274|REF_RGD_ID:2312725 11873777 TLR4 toll like receptor 4 gene DOID:850 lung disease ISO RGD:737014 D RGD:9068941 20200609 RGD acute lung injury PMID:15731076|REF_RGD_ID:4144789 11873777 TLR4 toll like receptor 4 gene DOID:850 lung disease ISO RGD:737014 D RGD:9068941 20200609 RGD acute lung injury associated with Hemorrhagic shock; mRNA:increased expression:lung PMID:18827744|REF_RGD_ID:4144149 11873777 TLR4 toll like receptor 4 gene DOID:850 lung disease ISO RGD:737014 D RGD:9068941 20200609 RGD lung injury associated with pancreatitis; PMID:19201771|REF_RGD_ID:4144143 11873777 TLR4 toll like receptor 4 gene DOID:850 lung disease ISO RGD:737014 D RGD:9068941 20200609 RGD ventilator-induced lung injury PMID:20683250|REF_RGD_ID:4143249 11873777 TLR4 toll like receptor 4 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum PMID:19608731|REF_RGD_ID:5128779 11873777 TLR4 toll like receptor 4 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:3870 D RGD:9068941 20200609 RGD protein:increased expression:ileum PMID:21240009|REF_RGD_ID:5490305 11873777 TLR4 toll like receptor 4 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23650378 11873777 TLR4 toll like receptor 4 gene DOID:869 cholesteatoma ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:mucosa: PMID:22883581|REF_RGD_ID:7800662 11873777 TLR4 toll like receptor 4 gene DOID:874 bacterial pneumonia ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:16210672|PMID:20650991|REF_RGD_ID:4144172|REF_RGD_ID:4144197 11873777 TLR4 toll like receptor 4 gene DOID:8778 Crohn's disease ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17914947 11873777 TLR4 toll like receptor 4 gene DOID:8893 psoriasis ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell: PMID:23457721|REF_RGD_ID:7777173 11873777 TLR4 toll like receptor 4 gene DOID:8927 learning disability ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29107071 11873777 TLR4 toll like receptor 4 gene DOID:8947 diabetic retinopathy onset ISO RGD:737013 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.N299G (human) PMID:19135114|REF_RGD_ID:2312487 11873777 TLR4 toll like receptor 4 gene DOID:9000039 Spinal Cord Injuries severity ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:25990044|REF_RGD_ID:14700556 11873777 TLR4 toll like receptor 4 gene DOID:9000081 Lymphatic Metastasis ISO RGD:737013 D RGD:9068941 20200609 RGD associated with Carcinoma, Ductal, Breast; PMID:23338716|REF_RGD_ID:7794684 11873777 TLR4 toll like receptor 4 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:737014 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:12781911|REF_RGD_ID:7794740 11873777 TLR4 toll like receptor 4 gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:737013 D RGD:9068941 20200609 RGD associated with Plaque,Atherosclerotic;mRNA:increased expression:mononuclear cell: PMID:23457721|REF_RGD_ID:7777173 11873777 TLR4 toll like receptor 4 gene DOID:9000238 Acute-On-Chronic Liver Failure treatment ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:23591781|REF_RGD_ID:10402084 11873777 TLR4 toll like receptor 4 gene DOID:9000310 Lung Injury ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22300504 11873777 TLR4 toll like receptor 4 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:19719951|REF_RGD_ID:4144093 11873777 TLR4 toll like receptor 4 gene DOID:9000641 Pain ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:18662331|REF_RGD_ID:2312574 11873777 TLR4 toll like receptor 4 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:20007931|REF_RGD_ID:4144229 11873777 TLR4 toll like receptor 4 gene DOID:9000784 Fibrosis ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27585667 11873777 TLR4 toll like receptor 4 gene DOID:9000843 Acne Conglobata susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms:exons:p.D299G,T399I(human) PMID:22085193|REF_RGD_ID:7777157 11873777 TLR4 toll like receptor 4 gene DOID:9000889 Escherichia Coli Meningitis ISO RGD:737014 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:12781911|REF_RGD_ID:7794740 11873777 TLR4 toll like receptor 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22180778 11873777 TLR4 toll like receptor 4 gene DOID:9000998 Brain Injuries ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:18316784|REF_RGD_ID:2312713 11873777 TLR4 toll like receptor 4 gene DOID:9000998 Brain Injuries ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 11873777 TLR4 toll like receptor 4 gene DOID:9001004 Chronic Periodontitis severity ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:gingiva: PMID:21848608|REF_RGD_ID:7794852 11873777 TLR4 toll like receptor 4 gene DOID:9001371 Eosinophilia ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26882889 11873777 TLR4 toll like receptor 4 gene DOID:9001472 Nasal Polyps ISO RGD:737013 D RGD:9068941 20200609 RGD associated with Rhinosinusitis;mRNA,protein:increased expression: PMID:23157229|REF_RGD_ID:7800741 11873777 TLR4 toll like receptor 4 gene DOID:9001552 Acanthamoeba Keratitis ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cornea PMID:21155840|REF_RGD_ID:7777095 11873777 TLR4 toll like receptor 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11873777 TLR4 toll like receptor 4 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:22683883|REF_RGD_ID:7241092 11873777 TLR4 toll like receptor 4 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:27601294|REF_RGD_ID:18182936 11873777 TLR4 toll like receptor 4 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20981132 11873777 TLR4 toll like receptor 4 gene DOID:9001708 Hemorrhagic Shock severity ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:25049041|REF_RGD_ID:14697700 11873777 TLR4 toll like receptor 4 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:21031135|REF_RGD_ID:7794771 11873777 TLR4 toll like receptor 4 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27442881 11873777 TLR4 toll like receptor 4 gene DOID:9001949 Fungal Eye Infections ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA:increased expression:cornea PMID:19474209|REF_RGD_ID:2312502 11873777 TLR4 toll like receptor 4 gene DOID:9001981 Weight Loss ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31442584 11873777 TLR4 toll like receptor 4 gene DOID:9002138 Spinal Cord Reperfusion Injury ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:27760212|REF_RGD_ID:12910551 11873777 TLR4 toll like receptor 4 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:21431875|REF_RGD_ID:10402078 11873777 TLR4 toll like receptor 4 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:3870 D RGD:9068941 20200609 RGD protein:increased expression:membrane raft: PMID:23395256|REF_RGD_ID:14697699 11873777 TLR4 toll like receptor 4 gene DOID:9002159 Liver Reperfusion Injury severity ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:22797797|REF_RGD_ID:14697702 11873777 TLR4 toll like receptor 4 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:27064547|REF_RGD_ID:14697698 11873777 TLR4 toll like receptor 4 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:21693218|REF_RGD_ID:5685379 11873777 TLR4 toll like receptor 4 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737014 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22021706|REF_RGD_ID:7207902 11873777 TLR4 toll like receptor 4 gene DOID:9002211 Hyperalgesia ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:20714435|REF_RGD_ID:4144070 11873777 TLR4 toll like receptor 4 gene DOID:9002211 Hyperalgesia ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:24204973|REF_RGD_ID:8553185 11873777 TLR4 toll like receptor 4 gene DOID:9002211 Hyperalgesia ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:15809417|REF_RGD_ID:7815040 11873777 TLR4 toll like receptor 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17301271 11873777 TLR4 toll like receptor 4 gene DOID:9002498 Wallerian Degeneration ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:18003835|REF_RGD_ID:2312723 11873777 TLR4 toll like receptor 4 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21616060 11873777 TLR4 toll like receptor 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3870 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:18644848|REF_RGD_ID:2312575 11873777 TLR4 toll like receptor 4 gene DOID:9003036 Oral Lichen Planus ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:oral epithelium: PMID:22672741|REF_RGD_ID:7777153 11873777 TLR4 toll like receptor 4 gene DOID:9003157 Respiratory Sounds susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNPs::rs11536891,rs11536896,rs11536898(human) PMID:20085599|REF_RGD_ID:5130731 11873777 TLR4 toll like receptor 4 gene DOID:9003321 Bacterial Keratitis ISO RGD:737014 D RGD:9068941 20200609 RGD associated with Pneumococcal Infections; PMID:23841825|REF_RGD_ID:8552886 11873777 TLR4 toll like receptor 4 gene DOID:9003321 Bacterial Keratitis ISO RGD:737014 D RGD:9068941 20200609 RGD associated with Serratia Infections; PMID:23033384|REF_RGD_ID:8662876 11873777 TLR4 toll like receptor 4 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:20806060|REF_RGD_ID:5130178 11873777 TLR4 toll like receptor 4 gene DOID:9004009 Reperfusion Injury ISO RGD:3870 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:19473433|REF_RGD_ID:2312503 11873777 TLR4 toll like receptor 4 gene DOID:9004009 Reperfusion Injury ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25780291|PMID:27064547 11873777 TLR4 toll like receptor 4 gene DOID:9004009 Reperfusion Injury ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:17126102|REF_RGD_ID:4144169 11873777 TLR4 toll like receptor 4 gene DOID:9004017 Chronic Hepatitis C ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:26095186|REF_RGD_ID:14700655 11873777 TLR4 toll like receptor 4 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNP: :rs2148356(human) PMID:26095186|REF_RGD_ID:14700655 11873777 TLR4 toll like receptor 4 gene DOID:9004055 Fungal Keratitis ISO RGD:737014 D RGD:9068941 20200609 RGD associated with Aspergillosis PMID:20617171|REF_RGD_ID:7794847 11873777 TLR4 toll like receptor 4 gene DOID:9004283 Transplant Rejection ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:20038715|REF_RGD_ID:7240555 11873777 TLR4 toll like receptor 4 gene DOID:9004283 Transplant Rejection ISO RGD:737014 D RGD:9068941 20200609 RGD pancreatic islet PMID:20642685|REF_RGD_ID:7240548 11873777 TLR4 toll like receptor 4 gene DOID:9004484 Sepsis ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:14604479|REF_RGD_ID:2312732 11873777 TLR4 toll like receptor 4 gene DOID:9004484 Sepsis ISO RGD:3870 D RGD:9068941 20200609 RGD associated with Liver Diseases;mRNA:increased expression:liver PMID:19489280|REF_RGD_ID:2312497 11873777 TLR4 toll like receptor 4 gene DOID:9004484 Sepsis ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20624996 11873777 TLR4 toll like receptor 4 gene DOID:9004538 Hearing Loss ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21148032 11873777 TLR4 toll like receptor 4 gene DOID:9004538 Hearing Loss susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD associated with Meningitis,Bacterial; DNA:SNP,haplotype: :896A>G(rs4986790)(human) PMID:22662111|REF_RGD_ID:7800663 11873777 TLR4 toll like receptor 4 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21473897 11873777 TLR4 toll like receptor 4 gene DOID:9004590 Acute Liver Failure ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:18070011|REF_RGD_ID:4144156 11873777 TLR4 toll like receptor 4 gene DOID:9004590 Acute Liver Failure treatment ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:20546456|REF_RGD_ID:14700555 11873777 TLR4 toll like receptor 4 gene DOID:9004610 Acute Lung Injury ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:19567182|REF_RGD_ID:5135496 11873777 TLR4 toll like receptor 4 gene DOID:9004974 Painful Neuropathy treatment ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:18615568|REF_RGD_ID:7815041 11873777 TLR4 toll like receptor 4 gene DOID:9005036 Bacteremia susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.D299G, T399I (human) PMID:18180796|REF_RGD_ID:4144194 11873777 TLR4 toll like receptor 4 gene DOID:9005172 Lung Neoplasms ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19925653 11873777 TLR4 toll like receptor 4 gene DOID:9005269 Stable Angina ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20981132 11873777 TLR4 toll like receptor 4 gene DOID:9005372 Inflammation ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16651628|PMID:22053092|PMID:22178603|PMID:22300504 11873777 TLR4 toll like receptor 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:16740310|REF_RGD_ID:2312491 11873777 TLR4 toll like receptor 4 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:20207969|REF_RGD_ID:7794846 11873777 TLR4 toll like receptor 4 gene DOID:9005930 Endotoxemia ISO RGD:737014 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:23977376|REF_RGD_ID:14697731 11873777 TLR4 toll like receptor 4 gene DOID:9005930 Endotoxemia disease_progression ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:23977376|REF_RGD_ID:14697731 11873777 TLR4 toll like receptor 4 gene DOID:9005930 Endotoxemia treatment ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:22172266|REF_RGD_ID:7241094 11873777 TLR4 toll like receptor 4 gene DOID:9005941 Rhinosinusitis ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:paranasal sinus PMID:22182736|REF_RGD_ID:7800733 11873777 TLR4 toll like receptor 4 gene DOID:9005968 Neuralgia ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA:increased expression:lumbar vertebra PMID:15145554|REF_RGD_ID:1342461 11873777 TLR4 toll like receptor 4 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:11801667|PMID:20130923|REF_RGD_ID:7240552|REF_RGD_ID:7241087 11873777 TLR4 toll like receptor 4 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:23239000|REF_RGD_ID:7207892 11873777 TLR4 toll like receptor 4 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA:increased expression:multiple tissues PMID:18434754|REF_RGD_ID:2312677 11873777 TLR4 toll like receptor 4 gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:22115333|REF_RGD_ID:10402095 11873777 TLR4 toll like receptor 4 gene DOID:9006928 Viral Bronchiolitis ISO RGD:737013 D RGD:9068941 20200609 RGD protein:decreased expression:neutrophil PMID:19497921|REF_RGD_ID:4144183 11873777 TLR4 toll like receptor 4 gene DOID:9006928 Viral Bronchiolitis ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:14738455|REF_RGD_ID:4144819 11873777 TLR4 toll like receptor 4 gene DOID:9006944 Alcoholic Fatty Liver severity ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:21463341|PMID:29884546|REF_RGD_ID:14697697|REF_RGD_ID:14700554 11873777 TLR4 toll like receptor 4 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cornea: PMID:20012880|REF_RGD_ID:8552969 11873777 TLR4 toll like receptor 4 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:17065506|REF_RGD_ID:7794775 11873777 TLR4 toll like receptor 4 gene DOID:9007096 Stroke ISO RGD:737013 D RGD:9068941 20200609 RGD associated with atherosclerosis;protein:increased expression:endothelial cell: PMID:20001205|REF_RGD_ID:7794781 11873777 TLR4 toll like receptor 4 gene DOID:9007204 Dysbiosis ISO RGD:737013 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:35390362 11873777 TLR4 toll like receptor 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury disease_progression ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:17504260|REF_RGD_ID:14697733 11873777 TLR4 toll like receptor 4 gene DOID:9007389 Acute Tubulointerstitial Nephritis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:22194975|REF_RGD_ID:7207900 11873777 TLR4 toll like receptor 4 gene DOID:9007599 Ocular Onchocerciasis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:11884755|REF_RGD_ID:7794682 11873777 TLR4 toll like receptor 4 gene DOID:9007692 Insulin Resistance ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:17426960|REF_RGD_ID:1620681 11873777 TLR4 toll like receptor 4 gene DOID:9007692 Insulin Resistance ISO RGD:737014 D RGD:9068941 20200609 RGD associated with Obesity PMID:19675137|REF_RGD_ID:2312483 11873777 TLR4 toll like receptor 4 gene DOID:9007692 Insulin Resistance severity ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:18633101|REF_RGD_ID:2312489 11873777 TLR4 toll like receptor 4 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:14962484|REF_RGD_ID:1302746 11873777 TLR4 toll like receptor 4 gene DOID:9008091 Optic Nerve Injuries ISO RGD:737014 D RGD:9068941 20200609 RGD protein:increased expression:optic nerve PMID:23103505|REF_RGD_ID:7794777 11873777 TLR4 toll like receptor 4 gene DOID:9008103 Seasonal Allergic Rhinitis susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.D299G, T399I (human) PMID:18517079|REF_RGD_ID:4144192 11873777 TLR4 toll like receptor 4 gene DOID:9008163 Chronic Hepatitis B ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:28414577|REF_RGD_ID:15090812 11873777 TLR4 toll like receptor 4 gene DOID:9008212 Diabetic Foot susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: :rs4986790,rs4986791,rs10759931,rs1927911(human); PMID:23936790|REF_RGD_ID:7777174 11873777 TLR4 toll like receptor 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16879199|PMID:22180778 11873777 TLR4 toll like receptor 4 gene DOID:9008520 Chronic Pain ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:24204973|REF_RGD_ID:8553185 11873777 TLR4 toll like receptor 4 gene DOID:9008691 Liver Injury severity ISO RGD:737014 D RGD:9068941 20200609 RGD associated with acute pancreatitis; PMID:18436016|REF_RGD_ID:14697701 11873777 TLR4 toll like receptor 4 gene DOID:9008821 Otitis Media with Effusion ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:22336013|REF_RGD_ID:7364764 11873777 TLR4 toll like receptor 4 gene DOID:9008865 Entamoebiasis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:15910421|REF_RGD_ID:7241086 11873777 TLR4 toll like receptor 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:19841185|REF_RGD_ID:7241088 11873777 TLR4 toll like receptor 4 gene DOID:9111 cutaneous leishmaniasis ISO RGD:737013 D RGD:9068941 20200609 RGD protein:decreased expression:skin: PMID:20493664|REF_RGD_ID:7794748 11873777 TLR4 toll like receptor 4 gene DOID:9351 diabetes mellitus ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:15632890|REF_RGD_ID:1580736 11873777 TLR4 toll like receptor 4 gene DOID:9351 diabetes mellitus ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:19210958|REF_RGD_ID:2312485 11873777 TLR4 toll like receptor 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.N299G, p.T399I (human) PMID:19395279|REF_RGD_ID:2312484 11873777 TLR4 toll like receptor 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:19010563|REF_RGD_ID:2312680 11873777 TLR4 toll like receptor 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:16728431|REF_RGD_ID:2312492 11873777 TLR4 toll like receptor 4 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.N299G, p.T399I (human) PMID:14578307|REF_RGD_ID:2312494 11873777 TLR4 toll like receptor 4 gene DOID:9452 fatty liver disease ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18641190|PMID:27022031 11873777 TLR4 toll like receptor 4 gene DOID:9675 pulmonary emphysema ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:17053835|REF_RGD_ID:4144170 11873777 TLR4 toll like receptor 4 gene DOID:9675 pulmonary emphysema ISO RGD:737014 D RGD:9068941 20220825 MouseDO OMIM:130700 11873777 TLR4 toll like receptor 4 gene DOID:9743 diabetic neuropathy ISO RGD:3870 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; PMID:22910613|REF_RGD_ID:7777098 11873777 TLR4 toll like receptor 4 gene DOID:9743 diabetic neuropathy ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14693986 11873777 TLR4 toll like receptor 4 gene DOID:9743 diabetic neuropathy susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphisms: :p.N299G, p.T399I (human) PMID:14693986|REF_RGD_ID:2312493 11873777 TLR4 toll like receptor 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:18029454|REF_RGD_ID:2312683 11873777 TLR4 toll like receptor 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:16728431|REF_RGD_ID:2312492 11873777 TLR4 toll like receptor 4 gene DOID:9970 obesity ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:19144836|REF_RGD_ID:2312510 11873777 TLR4 toll like receptor 4 gene DOID:9970 obesity ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:19144836|REF_RGD_ID:2312510 11873777 TLR4 toll like receptor 4 gene DOID:9970 obesity susceptibility ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:17053832|REF_RGD_ID:1620653 11873777 Tlr4 toll-like receptor 4 gene DOID:11446 sciatic neuropathy ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:22173123|REF_RGD_ID:7364836 11873791 KRT6C keratin 6C gene DOID:0111708 focal nonepidermolytic palmoplantar keratoderma ISO RGD:1351268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal palmoplantar keratoderma PMID:19609311 11873791 KRT6C keratin 6C gene DOID:0111710 focal or diffuse nonepidermolytic palmoplantar keratoderma ISO RGD:1351268 D RGD:7240710 20200610 OMIM 11873791 KRT6C keratin 6C gene DOID:0111710 focal or diffuse nonepidermolytic palmoplantar keratoderma ISO RGD:1351268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal or diffuse PMID:19609311|PMID:23662636|PMID:25741868|PMID:28492532 11873791 KRT6C keratin 6C gene DOID:630 genetic disease ISO RGD:1351268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11873802 LTC4S leukotriene C4 synthase gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:733491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 11873802 LTC4S leukotriene C4 synthase gene DOID:0060318 acute promyelocytic leukemia ISO RGD:733491 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 11873802 LTC4S leukotriene C4 synthase gene DOID:0060500 drug allergy ISO RGD:733491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16433794 11873802 LTC4S leukotriene C4 synthase gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:733491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11873802 LTC4S leukotriene C4 synthase gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:733491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10970818|PMID:20485159|PMID:9393345|PMID:9466979 11873802 LTC4S leukotriene C4 synthase gene DOID:0112103 Sotos syndrome 1 ISO RGD:733491 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11873802 LTC4S leukotriene C4 synthase gene DOID:10754 otitis media ISO RGD:10355889 D RGD:9068941 20200609 RGD PMID:20433028|REF_RGD_ID:11553910 11873802 LTC4S leukotriene C4 synthase gene DOID:2921 glomerulonephritis ISO RGD:620677 D RGD:9068941 20200609 RGD protein:altered activity:kidney, cortex (rat) PMID:7827126|REF_RGD_ID:2316641 11873802 LTC4S leukotriene C4 synthase gene DOID:574 peripheral nervous system disease ISO RGD:620677 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord dorsal horn (rat) PMID:19908283|REF_RGD_ID:2316612 11873802 LTC4S leukotriene C4 synthase gene DOID:630 genetic disease ISO RGD:733491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873802 LTC4S leukotriene C4 synthase gene DOID:9002023 Leukotriene C4 Synthase Deficiency ISO RGD:733491 D RGD:7240710 20180130 OMIM 11873802 LTC4S leukotriene C4 synthase gene DOID:9002023 Leukotriene C4 Synthase Deficiency ISO RGD:733491 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukotriene c4 synthase deficiency PMID:25741868 11873802 LTC4S leukotriene C4 synthase gene DOID:9004590 Acute Liver Failure ISO RGD:620677 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (rat) PMID:18461660|REF_RGD_ID:2302283 11873811 LOC100984057 olfactory receptor 11H4 gene DOID:630 genetic disease ISO RGD:1345740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873817 PRIMA1 proline rich membrane anchor 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1315672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy PMID:17576681|PMID:26467025|PMID:28492532|PMID:9536098 11873817 PRIMA1 proline rich membrane anchor 1 gene DOID:0080054 achondrogenesis type IA ISO RGD:1315672 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11873817 PRIMA1 proline rich membrane anchor 1 gene DOID:0081063 DICER1 syndrome ISO RGD:1315672 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 11873817 PRIMA1 proline rich membrane anchor 1 gene DOID:630 genetic disease ISO RGD:1315672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11873817 PRIMA1 proline rich membrane anchor 1 gene DOID:9884 muscular dystrophy ISO RGD:1315672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22906800 11873838 TM4SF4 transmembrane 4 L six family member 4 gene DOID:0050579 glycogen storage disease XV ISO RGD:731779 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 11873838 TM4SF4 transmembrane 4 L six family member 4 gene DOID:409 liver disease ISO RGD:731779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17069928 11873838 TM4SF4 transmembrane 4 L six family member 4 gene DOID:630 genetic disease ISO RGD:731779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873847 TMEM109 transmembrane protein 109 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1601968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11873847 TMEM109 transmembrane protein 109 gene DOID:1059 intellectual disability ISO RGD:1601968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11873847 TMEM109 transmembrane protein 109 gene DOID:630 genetic disease ISO RGD:1601968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873855 NPY neuropeptide Y gene DOID:0050830 peripheral artery disease ISO RGD:730830 D RGD:9068941 20200609 RGD PMID:21468772|REF_RGD_ID:10448273 11873855 NPY neuropeptide Y gene DOID:0060001 withdrawal disorder ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16952158 11873855 NPY neuropeptide Y gene DOID:10652 Alzheimer's disease ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11709213 11873855 NPY neuropeptide Y gene DOID:10652 Alzheimer's disease ISO RGD:730830 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:8592643|REF_RGD_ID:10432246 11873855 NPY neuropeptide Y gene DOID:10652 Alzheimer's disease treatment ISO RGD:3197 D RGD:9068941 20200609 RGD PMID:22266216|REF_RGD_ID:10431479 11873855 NPY neuropeptide Y gene DOID:10763 hypertension ISO RGD:3197 D RGD:9068941 20200609 RGD PMID:15699473|PMID:18835922|REF_RGD_ID:10448968|REF_RGD_ID:1357410 11873855 NPY neuropeptide Y gene DOID:10763 hypertension ISO RGD:730830 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L7P (human) PMID:11689216|REF_RGD_ID:1580177 11873855 NPY neuropeptide Y gene DOID:11832 visual epilepsy ISO RGD:3197 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:21915341|REF_RGD_ID:10448927 11873855 NPY neuropeptide Y gene DOID:11832 visual epilepsy treatment ISO RGD:730830 D RGD:9068941 20200609 RGD PMID:19038255|REF_RGD_ID:10448944 11873855 NPY neuropeptide Y gene DOID:12858 Huntington's disease ISO RGD:11016 D RGD:9068941 20200609 RGD mRNA:decreased expression:hypothalamus PMID:23697793|REF_RGD_ID:10433112 11873855 NPY neuropeptide Y gene DOID:12858 Huntington's disease ISO RGD:3197 D RGD:9068941 20200609 RGD PMID:1710657|REF_RGD_ID:10433553 11873855 NPY neuropeptide Y gene DOID:12858 Huntington's disease no_association ISO RGD:730830 D RGD:9068941 20200609 RGD DNA:SNP: :rs16147 (human) PMID:24121255|REF_RGD_ID:10431606 11873855 NPY neuropeptide Y gene DOID:12858 Huntington's disease onset ISO RGD:730830 D RGD:9068941 20200609 RGD DNA:SNP: :rs3037354 (human) PMID:24121255|REF_RGD_ID:10431606 11873855 NPY neuropeptide Y gene DOID:1287 cardiovascular system disease ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9812770 11873855 NPY neuropeptide Y gene DOID:1307 dementia ISO RGD:730830 D RGD:9068941 20200609 RGD associated with Parkinson Disease;protein:decreased expression:cerebral cortex PMID:2903567|REF_RGD_ID:10433462 11873855 NPY neuropeptide Y gene DOID:1574 alcohol use disorder ISO RGD:3197 D RGD:9068941 20200609 RGD DNA:deletion:intron:g.4666_4674del (rat) PMID:15749341|REF_RGD_ID:1357412 11873855 NPY neuropeptide Y gene DOID:1574 alcohol use disorder ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17572454 11873855 NPY neuropeptide Y gene DOID:1574 alcohol use disorder ISO RGD:730830 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.L7P (human) PMID:12215082|REF_RGD_ID:10430830 11873855 NPY neuropeptide Y gene DOID:1596 depressive disorder ISO RGD:3197 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus, prefrontal cortex PMID:22406386|REF_RGD_ID:10448940 11873855 NPY neuropeptide Y gene DOID:1596 depressive disorder ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17572454|PMID:9729278 11873855 NPY neuropeptide Y gene DOID:1596 depressive disorder ISO RGD:730830 D RGD:9068941 20200609 RGD DNA:snp, missense mutation:promoter, cds:g.-399T>C, p.L7P (human) PMID:14757324|REF_RGD_ID:1358535 11873855 NPY neuropeptide Y gene DOID:1596 depressive disorder treatment ISO RGD:3197 D RGD:9068941 20200609 RGD PMID:19623606|REF_RGD_ID:10448937 11873855 NPY neuropeptide Y gene DOID:1824 status epilepticus ISO RGD:3197 D RGD:9068941 20200609 RGD PMID:19270346|REF_RGD_ID:10448969 11873855 NPY neuropeptide Y gene DOID:1825 childhood absence epilepsy treatment ISO RGD:3197 D RGD:9068941 20200609 RGD PMID:24039965|REF_RGD_ID:10448964 11873855 NPY neuropeptide Y gene DOID:1825 childhood absence epilepsy treatment ISO RGD:730830 D RGD:9068941 20200609 RGD PMID:17331209|REF_RGD_ID:10448963 11873855 NPY neuropeptide Y gene DOID:1826 epilepsy ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20064661|PMID:8868293 11873855 NPY neuropeptide Y gene DOID:1936 atherosclerosis severity ISO RGD:11016 D RGD:9068941 20200609 RGD PMID:21468772|REF_RGD_ID:10448273 11873855 NPY neuropeptide Y gene DOID:2030 anxiety disorder ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11440811 11873855 NPY neuropeptide Y gene DOID:2030 anxiety disorder susceptibility ISO RGD:730830 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes PMID:22328461|REF_RGD_ID:6480264 11873855 NPY neuropeptide Y gene DOID:2349 arteriosclerosis ISO RGD:730830 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L7P (human) PMID:11689216|REF_RGD_ID:1580177 11873855 NPY neuropeptide Y gene DOID:2841 asthma ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9731035 11873855 NPY neuropeptide Y gene DOID:303 substance-related disorder ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19063928 11873855 NPY neuropeptide Y gene DOID:3328 temporal lobe epilepsy ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15716408 11873855 NPY neuropeptide Y gene DOID:3328 temporal lobe epilepsy treatment ISO RGD:730830 D RGD:9068941 20200609 RGD PMID:18477594|REF_RGD_ID:10434563 11873855 NPY neuropeptide Y gene DOID:3526 cerebral infarction ISO RGD:3197 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:17123484|REF_RGD_ID:10448931 11873855 NPY neuropeptide Y gene DOID:3526 cerebral infarction ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11821007 11873855 NPY neuropeptide Y gene DOID:4483 rhinitis ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12746121 11873855 NPY neuropeptide Y gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:730830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11873855 NPY neuropeptide Y gene DOID:571 median neuropathy ISO RGD:3197 D RGD:9068941 20200609 RGD PMID:19456245|REF_RGD_ID:10448955 11873855 NPY neuropeptide Y gene DOID:574 peripheral nervous system disease ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17686523 11873855 NPY neuropeptide Y gene DOID:6000 congestive heart failure ISO RGD:3197 D RGD:9068941 20200609 RGD PMID:17804485|REF_RGD_ID:7175103 11873855 NPY neuropeptide Y gene DOID:630 genetic disease ISO RGD:730830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873855 NPY neuropeptide Y gene DOID:9000040 Hypertrophy ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9812770 11873855 NPY neuropeptide Y gene DOID:9000099 Experimental Colitis treatment ISO RGD:3197 D RGD:9068941 20200609 RGD PMID:20533056|REF_RGD_ID:10448943 11873855 NPY neuropeptide Y gene DOID:9000503 Nasal Obstruction ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9288221 11873855 NPY neuropeptide Y gene DOID:9000808 Hypercholesterolemia ISO RGD:730830 D RGD:9068941 20200609 RGD associated with Obesity;DNA:missense mutation:cds:p.L7P (human) PMID:11689216|REF_RGD_ID:1580177 11873855 NPY neuropeptide Y gene DOID:9000998 Brain Injuries ISO RGD:3197 D RGD:9068941 20200609 RGD protein:increased expression:adrenal medulla PMID:23570732|REF_RGD_ID:10448961 11873855 NPY neuropeptide Y gene DOID:9001109 Anorexia ISO RGD:3197 D RGD:9068941 20200609 RGD associated with Neoplasms PMID:17234300|REF_RGD_ID:10448965 11873855 NPY neuropeptide Y gene DOID:9001109 Anorexia ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16084549|PMID:16101753|PMID:25825358 11873855 NPY neuropeptide Y gene DOID:9001480 Muscle Rigidity ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10675796 11873855 NPY neuropeptide Y gene DOID:9001981 Weight Loss ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25825358 11873855 NPY neuropeptide Y gene DOID:9002211 Hyperalgesia treatment ISO RGD:3197 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:19556004|REF_RGD_ID:10448929 11873855 NPY neuropeptide Y gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:730830 D RGD:9068941 20210709 CTD CTD Direct Evidence: therapeutic PMID:32956829 11873855 NPY neuropeptide Y gene DOID:9002362 Hyperkinesis ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19063928 11873855 NPY neuropeptide Y gene DOID:9002676 Cerebral Hemorrhage ISO RGD:3197 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:15068713|REF_RGD_ID:1580182 11873855 NPY neuropeptide Y gene DOID:9004086 AIDS Dementia Complex severity ISO RGD:730830 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:8815163|REF_RGD_ID:10431910 11873855 NPY neuropeptide Y gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:730830 D RGD:9068941 20200609 RGD in dialysis patients with a NPY receptor Y2 mutation PMID:20543711|REF_RGD_ID:7175091 11873855 NPY neuropeptide Y gene DOID:9004663 Intestinal Ischemia ISO RGD:3197 D RGD:9068941 20200609 RGD associated with Brain Injuries;mRNA, protein:increased expression:jejunum, plasma PMID:23622727|REF_RGD_ID:10448970 11873855 NPY neuropeptide Y gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19063928 11873855 NPY neuropeptide Y gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3197 D RGD:9068941 20200609 RGD protein:increased expression:paraventricular nucleus of hypothalamus PMID:21042571|REF_RGD_ID:10448960 11873855 NPY neuropeptide Y gene DOID:9005930 Endotoxemia treatment ISO RGD:3197 D RGD:9068941 20200609 RGD PMID:15342191|REF_RGD_ID:1580787 11873855 NPY neuropeptide Y gene DOID:9006709 Primary Graft Dysfunction ISO RGD:3197 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:blood, mononuclear cell PMID:18981110|REF_RGD_ID:10448956 11873855 NPY neuropeptide Y gene DOID:9007651 Chronic Bronchitis ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9731035 11873855 NPY neuropeptide Y gene DOID:9007956 Febrile Seizures ISO RGD:3197 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus (rat) PMID:15800380|REF_RGD_ID:1580179 11873855 NPY neuropeptide Y gene DOID:9008023 Memory Disorders ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2611661 11873855 NPY neuropeptide Y gene DOID:9352 type 2 diabetes mellitus ISO RGD:730830 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L7P (human) PMID:15926114|REF_RGD_ID:1580183 11873855 NPY neuropeptide Y gene DOID:9970 obesity ISO RGD:3197 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hypothalamus PMID:17447163|REF_RGD_ID:10448938 11873867 TTLL4 tubulin tyrosine ligase like 4 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1315312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11873867 TTLL4 tubulin tyrosine ligase like 4 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1315312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11873867 TTLL4 tubulin tyrosine ligase like 4 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1315312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11873867 TTLL4 tubulin tyrosine ligase like 4 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1315312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11873867 TTLL4 tubulin tyrosine ligase like 4 gene DOID:630 genetic disease ISO RGD:1315312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873867 TTLL4 tubulin tyrosine ligase like 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11873921 LINC02873 long intergenic non-protein coding RNA 2873 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1601924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11873921 LINC02873 long intergenic non-protein coding RNA 2873 gene DOID:5419 schizophrenia ISO RGD:1601924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11873921 LINC02873 long intergenic non-protein coding RNA 2873 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1601924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11873921 LINC02873 long intergenic non-protein coding RNA 2873 gene DOID:9007661 Dwarfism ISO RGD:1601924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11873928 PTPRH protein tyrosine phosphatase receptor type H gene DOID:0110936 nemaline myopathy 5 ISO RGD:1345629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5 PMID:28492532 11873928 PTPRH protein tyrosine phosphatase receptor type H gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1345629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 11873928 PTPRH protein tyrosine phosphatase receptor type H gene DOID:630 genetic disease ISO RGD:1345629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873954 SEL1L3 SEL1L family member 3 gene DOID:630 genetic disease ISO RGD:1604048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873987 ITGA9 integrin subunit alpha 9 gene DOID:0050451 Brugada syndrome ISO RGD:1322518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 11873987 ITGA9 integrin subunit alpha 9 gene DOID:0060646 congenital chylothorax ISO RGD:1322519 D RGD:9068941 20220825 MouseDO OMIM:603523 11873987 ITGA9 integrin subunit alpha 9 gene DOID:10763 hypertension susceptibility ISO RGD:1322518 D RGD:9068941 20200609 RGD DNA:SNP: :rs155524(human) PMID:20479155|REF_RGD_ID:13602005 11873987 ITGA9 integrin subunit alpha 9 gene DOID:1793 pancreatic cancer ISO RGD:1322518 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:18772397|REF_RGD_ID:5490966 11873987 ITGA9 integrin subunit alpha 9 gene DOID:3526 cerebral infarction susceptibility ISO RGD:1322518 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype:rs189897,rs2212020(human) PMID:21764681|REF_RGD_ID:13602007 11873987 ITGA9 integrin subunit alpha 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1322518 D RGD:9068941 20220908 RGD mRNA:decreased expression:lung (human) PMID:22491060|REF_RGD_ID:153350086 11873987 ITGA9 integrin subunit alpha 9 gene DOID:630 genetic disease ISO RGD:1322518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11873987 ITGA9 integrin subunit alpha 9 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1322518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:0050451 Brugada syndrome ISO RGD:1345144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25049379 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1345144 D RGD:9068941 20220311 RGD DNA:mutation:L265P, L265S (human) PMID:28803429|REF_RGD_ID:151665120 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1345144 D RGD:9068941 20220317 RGD DNA:missense mutation:L265P (human) PMID:25347427|REF_RGD_ID:11075852 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:0050745 diffuse large B-cell lymphoma severity ISO RGD:1345144 D RGD:9068941 20220317 RGD DNA:missense mutation:L265P (human) PMID:31609782|REF_RGD_ID:151665203 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:0050860 colorectal adenoma ameliorates ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:30063920|REF_RGD_ID:150519915 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:0050861 colorectal adenocarcinoma exacerbates ISO RGD:1345144 D RGD:9068941 20211231 RGD RNA:decreased expression:colon (human) PMID:28533893|REF_RGD_ID:150540307 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:0050873 follicular lymphoma ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:0060058 lymphoma ISO RGD:1345144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lymphoma PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:26619011|PMID:28492532 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1345144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant lymphoma, non-Hodgkin PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:26619011|PMID:28492532 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:0060901 lymphoplasmacytic lymphoma ISO RGD:1345144 D RGD:7240710 20200701 OMIM 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:0060901 lymphoplasmacytic lymphoma ISO RGD:1345144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macroglobulinemia, Waldenstrom, somatic PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:26619011|PMID:28492532 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:0080199 colorectal carcinoma ameliorates ISO RGD:1345144 D RGD:9068941 20211105 RGD human cell line in a mouse model PMID:31746347|REF_RGD_ID:150520167 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:0080199 colorectal carcinoma exacerbates ISO RGD:1345144 D RGD:9068941 20211022 RGD mRNA:increased expression:colon (human) PMID:30221070|REF_RGD_ID:150519917 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:25790822|REF_RGD_ID:150519907 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:0080599 Coronavirus infectious disease ISO RGD:1551097 D RGD:9068941 20220825 MouseDO 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1345144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:26619011|PMID:28492532 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:10534 stomach cancer ameliorates ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:23728346|REF_RGD_ID:150519918 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:10534 stomach cancer onset ISO RGD:1551097 D RGD:9068941 20211022 RGD associated with Helicobacter Infections PMID:24166959|REF_RGD_ID:150519913 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:10763 hypertension ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27292124 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:11168 anogenital venereal wart ISO RGD:1345144 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:12253 testicular lymphoma ISO RGD:730908 D RGD:9068941 20211203 RGD associated with diffuse large B-cell lymphoma;DNA:missense mutation:CDS:p.L265P (human) PMID:28868954|REF_RGD_ID:150524335 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:1324 lung cancer exacerbates ISO RGD:1345144 D RGD:9068941 20211112 RGD human cell line in a mouse model PMID:22938463|REF_RGD_ID:150521529 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:13250 diarrhea ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:20624890|REF_RGD_ID:150520020 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:13619 extrahepatic cholestasis ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:1520 colon carcinoma treatment ISO RGD:1551097 D RGD:9068941 20211105 RGD mouse cell line in a mouse model PMID:20823152|REF_RGD_ID:150520170 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:1612 breast cancer exacerbates ISO RGD:1345144 D RGD:9068941 20211203 RGD RNA:increased expression:breast (human) PMID:26596839|REF_RGD_ID:150524333 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:1909 melanoma treatment ISO RGD:1551097 D RGD:9068941 20211105 RGD mouse cell line in a mouse model PMID:20823152|REF_RGD_ID:150520170 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:2043 hepatitis B ISO RGD:1345144 D RGD:9068941 20211105 RGD associated with hepatocellular carcinoma;protein:decreased expression:liver (human) PMID:28370778|REF_RGD_ID:150520169 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:219 colon cancer ameliorates ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:23184679|REF_RGD_ID:150520021 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:2326 gastroenteritis treatment ISO RGD:1551097 D RGD:9068941 20211231 RGD associated with colorectal adenocarcinoma; mouse cell line in a mouse model PMID:31936237|REF_RGD_ID:150540308 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:234 colon adenocarcinoma exacerbates ISO RGD:1345144 D RGD:9068941 20211112 RGD human cell line in a mouse model PMID:18538140|REF_RGD_ID:150521533 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:2355 anemia ameliorates ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:17615359|REF_RGD_ID:150519908 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:2841 asthma ameliorates ISO RGD:1551097 D RGD:9068941 20211112 RGD PMID:26882889|REF_RGD_ID:11531666 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:2945 severe acute respiratory syndrome ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26861016 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:3234 central nervous system lymphoma treatment ISO RGD:1345144 D RGD:9068941 20220317 RGD PMID:28619981|REF_RGD_ID:151665208 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:3459 breast carcinoma ameliorates ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:22088941|REF_RGD_ID:150519914 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:3459 breast carcinoma treatment ISO RGD:1551097 D RGD:9068941 20211105 RGD mouse cell line in a mouse model PMID:20823152|REF_RGD_ID:150520170 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345144 D RGD:9068941 20211022 RGD protein:increased expression:lung (human) PMID:31432177|REF_RGD_ID:150519919 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1345144 D RGD:9068941 20211203 RGD DNA:hypomethylation:promoter (human) PMID:32010578|REF_RGD_ID:150524328 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1551097 D RGD:9068941 20211231 RGD PMID:30712876|REF_RGD_ID:150540309 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:3910 lung adenocarcinoma treatment ISO RGD:1551097 D RGD:9068941 20211105 RGD mouse cell line in a mouse model PMID:32140881|REF_RGD_ID:150520172 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:5041 esophageal cancer ISO RGD:1345144 D RGD:9068941 20211022 RGD mRNA:splice variants:esophagus (human) PMID:24527027|REF_RGD_ID:150519911 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:552 pneumonia ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26882889 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:630 genetic disease ISO RGD:1345144 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:6536 plasma cell neoplasm ISO RGD:1345144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:26619011|PMID:28492532 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:684 hepatocellular carcinoma ISO RGD:1345144 D RGD:9068941 20211022 RGD mRNA:increased expression:liver (human) PMID:29022910|REF_RGD_ID:150520022 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:684 hepatocellular carcinoma ISO RGD:1345144 D RGD:9068941 20211203 RGD protein:increased expression:liver (human) PMID:26985932|REF_RGD_ID:150524330 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1551097 D RGD:9068941 20211112 RGD PMID:17615358|REF_RGD_ID:150521532 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1345144 D RGD:9068941 20211105 RGD protein, mRNA:decreased expression:liver (human) PMID:28370778|REF_RGD_ID:150520169 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1345144 D RGD:9068941 20211210 RGD human gene and cell in a mouse model PMID:24603331|REF_RGD_ID:150530285 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1345144 D RGD:9068941 20211203 RGD human cell line in a mouse model PMID:32144747|REF_RGD_ID:150524327 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1551097 D RGD:9068941 20211203 RGD mouse cell line in a mouse model PMID:31074165|REF_RGD_ID:150524334 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:684 hepatocellular carcinoma treatment ISO RGD:735043 D RGD:9068941 20211203 RGD PMID:31068809|PMID:33575076|REF_RGD_ID:150521534|REF_RGD_ID:150524329 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:7442 monoclonal gammopathy of uncertain significance ISO RGD:1551097 D RGD:9068941 20220825 MouseDO 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9000099 Experimental Colitis exacerbates ISO RGD:1551097 D RGD:9068941 20211112 RGD PMID:25362351|REF_RGD_ID:150521530 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9000217 Stomach Neoplasms ameliorates ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:26888865|REF_RGD_ID:150519909 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9001371 Eosinophilia ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26882889 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9001436 Immunodeficiency 68 ISO RGD:1345144 D RGD:7240710 20180130 OMIM 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9001436 Immunodeficiency 68 ISO RGD:1345144 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY PMID:16199547|PMID:17576681|PMID:18669862|PMID:19506249|PMID:20538326|PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:24316379|PMID:24728327|PMID:25741868|PMID:26619011|PMID:28492532|PMID:31301515|PMID:9536098 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9001642 Intestinal Polyps ameliorates ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:17615359|REF_RGD_ID:150519908 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1345144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:26619011|PMID:28492532 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9002457 Experimental Arthritis ISO RGD:1551097 D RGD:9068941 20200609 RGD PMID:20131263|REF_RGD_ID:8552884 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9003321 Bacterial Keratitis ISO RGD:1551097 D RGD:9068941 20200609 RGD associated with Serratia Infections; PMID:23033384|REF_RGD_ID:8662876 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9003321 Bacterial Keratitis ISO RGD:1551097 D RGD:9068941 20200609 RGD associated with Staphylococcal Infections; PMID:16926427|REF_RGD_ID:8552819 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9003571 Paraproteinemias ISO RGD:1345144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:26619011|PMID:28492532 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9003690 Carcinoma, Lewis Lung treatment ISO RGD:1551097 D RGD:9068941 20211112 RGD mouse cell line in a mouse model PMID:26111447|REF_RGD_ID:150521531 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9004009 Reperfusion Injury ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25780291 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9004271 Colonic Polyps ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:20624890|REF_RGD_ID:150520020 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21473897 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9004831 Colitis-Associated Neoplasms ameliorates ISO RGD:1551097 D RGD:9068941 20211210 RGD PMID:21519141|PMID:26712311|REF_RGD_ID:150520168|REF_RGD_ID:150530283 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9004831 Colitis-Associated Neoplasms exacerbates ISO RGD:1551097 D RGD:9068941 20211210 RGD PMID:29960049|PMID:30650348|REF_RGD_ID:150521528|REF_RGD_ID:150530281 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9005372 Inflammation ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22053092 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9007346 Cachexia ameliorates ISO RGD:1551097 D RGD:9068941 20211210 RGD associated with Carcinoma, Lewis Lung PMID:31138662|REF_RGD_ID:150530282 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ameliorates ISO RGD:1551097 D RGD:9068941 20211112 RGD PMID:17615358|REF_RGD_ID:150521532 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:735043 D RGD:9068941 20200609 RGD PMID:14962484|REF_RGD_ID:1302746 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9008114 Helicobacter Infections ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:28201999|REF_RGD_ID:150519916 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1345144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9008691 Liver Injury disease_progression ISO RGD:1620111 D RGD:9068941 20211203 RGD PMID:30770929|REF_RGD_ID:150524332 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9009054 Colorectal Cancer 10 ameliorates ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:33177648|REF_RGD_ID:150519912 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9256 colorectal cancer ameliorates ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:30221070|REF_RGD_ID:150519917 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9256 colorectal cancer disease_progression ISO RGD:1345144 D RGD:9068941 20211105 RGD mRNA:decreased expression:colon (human) PMID:24887488|REF_RGD_ID:150520171 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9256 colorectal cancer severity ISO RGD:1345144 D RGD:9068941 20211203 RGD DNA:SNP:promoter: (rs4988453) (human) PMID:24154872|REF_RGD_ID:150524331 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9256 colorectal cancer severity ISO RGD:1345144 D RGD:9068941 20211203 RGD protein:increased expression:colonic mucosa (human) PMID:20145615|REF_RGD_ID:150524336 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9498 pulmonary eosinophilia ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29067999 11874019 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9538 multiple myeloma ISO RGD:1345144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:26619011|PMID:28492532 11874037 LOC103784916 PIGY upstream open reading frame gene DOID:630 genetic disease ISO RGD:1605909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11874037 LOC103784916 PIGY upstream open reading frame gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1605909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 11874037 LOC103784916 PIGY upstream open reading frame gene DOID:9001811 Hyperphosphatasia with Impaired Intellectual Development Syndrome 6 ISO RGD:1605909 D RGD:7240710 20190315 OMIM 11874037 LOC103784916 PIGY upstream open reading frame gene DOID:9001811 Hyperphosphatasia with Impaired Intellectual Development Syndrome 6 ISO RGD:1605909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 12 PMID:25741868|PMID:26293662|PMID:28492532 11874037 LOC103784916 PIGY upstream open reading frame gene DOID:9005046 Hyperphosphatasia with Impaired Intellectual Development Syndrome ISO RGD:1605909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11874044 ZNF891 zinc finger protein 891 gene DOID:630 genetic disease ISO RGD:7242309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11874075 ITGA5 integrin subunit alpha 5 gene DOID:1749 squamous cell carcinoma ISO RGD:1351478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 11874075 ITGA5 integrin subunit alpha 5 gene DOID:630 genetic disease ISO RGD:1351478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11874075 ITGA5 integrin subunit alpha 5 gene DOID:9000217 Stomach Neoplasms ISO RGD:1351478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17786296 11874075 ITGA5 integrin subunit alpha 5 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1351478 D RGD:9068941 20200924 RGD mRNA:increased expression:lung PMID:25593290|REF_RGD_ID:38500244 11874075 ITGA5 integrin subunit alpha 5 gene DOID:9002211 Hyperalgesia ISO RGD:2925 D RGD:9068941 20200609 RGD epinephrine-induced PMID:14984413|REF_RGD_ID:2302389 11874075 ITGA5 integrin subunit alpha 5 gene DOID:9002211 Hyperalgesia ISO RGD:2925 D RGD:9068941 20200609 RGD knock-down using a specific monoclonal antibody or RNAi PMID:15836982|REF_RGD_ID:2302139 11874075 ITGA5 integrin subunit alpha 5 gene DOID:9004009 Reperfusion Injury ISO RGD:1351478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 11874075 ITGA5 integrin subunit alpha 5 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1351478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224397 11874075 ITGA5 integrin subunit alpha 5 gene DOID:9007402 Gliosis ISO RGD:1351478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12851778 11874109 SOX9 SRY-box transcription factor 9 gene DOID:0050463 campomelic dysplasia ISO RGD:1322513 D RGD:7240710 20180130 OMIM 11874109 SOX9 SRY-box transcription factor 9 gene DOID:0050463 campomelic dysplasia ISO RGD:1322513 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Acampomelic campomelic dysplasia | ClinVar Annotator: match by term: Acampomelic campomelic dysplasia with autosomal sex reversal | ClinVar Annotator: match by term: Campomelic Dysplasia | ClinVar Annotator: match by term: Camptomelic dysplasia PMID:10951468|PMID:11323423|PMID:11371614|PMID:12783851|PMID:12810722|PMID:15300742|PMID:15806394|PMID:16199547|PMID:17576681|PMID:1809232|PMID:19033726|PMID:19449405|PMID:19921652|PMID:20301724|PMID:20513132|PMID:21218044|PMID:21373255|PMID:21412441|PMID:21614988|PMID:23564514|PMID:24038782|PMID:24451061|PMID:25741868|PMID:25983619|PMID:26078652|PMID:26633542|PMID:26740947|PMID:27899157|PMID:28166811|PMID:28492532|PMID:29542186|PMID:31389106|PMID:32381727|PMID:32595695|PMID:34092239|PMID:7485151|PMID:7990924|PMID:8001137|PMID:8894698|PMID:9002675|PMID:9536098 11874109 SOX9 SRY-box transcription factor 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1322513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20868653 11874109 SOX9 SRY-box transcription factor 9 gene DOID:0080082 nonsyndromic congenital nail disorder 4 ISO RGD:1322513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19639023 11874109 SOX9 SRY-box transcription factor 9 gene DOID:0111763 46,XX sex reversal 2 ISO RGD:1322513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46,XX sex reversal 2 PMID:21208124|PMID:22051515 11874109 SOX9 SRY-box transcription factor 9 gene DOID:0111775 46,XY sex reversal 10 ISO RGD:1322513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 10 PMID:22051515|PMID:25604083|PMID:567843|PMID:6620326 11874109 SOX9 SRY-box transcription factor 9 gene DOID:10283 prostate cancer ISO RGD:1322513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11874109 SOX9 SRY-box transcription factor 9 gene DOID:1324 lung cancer ISO RGD:1322513 D RGD:9068941 20220407 RGD mRNA:increased expression:lung PMID:31221478|REF_RGD_ID:151665930 11874109 SOX9 SRY-box transcription factor 9 gene DOID:1324 lung cancer disease_progression ISO RGD:1605727 D RGD:9068941 20220407 RGD PMID:31221478|REF_RGD_ID:151665930 11874109 SOX9 SRY-box transcription factor 9 gene DOID:305 carcinoma ISO RGD:1322513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11874109 SOX9 SRY-box transcription factor 9 gene DOID:3905 lung carcinoma exacerbates ISO RGD:1605727 D RGD:9068941 20220407 RGD PMID:31221478|REF_RGD_ID:151665930 11874109 SOX9 SRY-box transcription factor 9 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1322513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19234473 11874109 SOX9 SRY-box transcription factor 9 gene DOID:630 genetic disease ISO RGD:1322513 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10446171|PMID:10951468|PMID:12161603|PMID:12783851|PMID:19033726|PMID:20513132|PMID:23551858|PMID:24038782|PMID:25741868|PMID:28492532|PMID:9066880 11874109 SOX9 SRY-box transcription factor 9 gene DOID:65 connective tissue disease ISO RGD:1322513 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:15806394|PMID:1809232|PMID:20301724|PMID:25741868|PMID:28492532|PMID:8001137|PMID:9002675 11874109 SOX9 SRY-box transcription factor 9 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1322513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11874109 SOX9 SRY-box transcription factor 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1322513 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32682831 11874109 SOX9 SRY-box transcription factor 9 gene DOID:9002589 Bone Fractures ISO RGD:620474 D RGD:9068941 20200609 RGD PMID:21252473|REF_RGD_ID:11252151 11874109 SOX9 SRY-box transcription factor 9 gene DOID:9003184 Campomelic Dysplasia with Autosomal Sex Reversal ISO RGD:1322513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Campomelic dysplasia with autosomal sex reversal PMID:11076045|PMID:11323423|PMID:12810722|PMID:15806394|PMID:1809232|PMID:20301724|PMID:21412441|PMID:25741868|PMID:26078652|PMID:26633542|PMID:28492532|PMID:31389106|PMID:34092239|PMID:7485151|PMID:7990924|PMID:8001137|PMID:8894698|PMID:9002675 11874109 SOX9 SRY-box transcription factor 9 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1322513 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32682831 11874109 SOX9 SRY-box transcription factor 9 gene DOID:9004795 Congenital Hand Deformities ISO RGD:1322513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19639023 11874109 SOX9 SRY-box transcription factor 9 gene DOID:9005172 Lung Neoplasms ISO RGD:1322513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 11874109 SOX9 SRY-box transcription factor 9 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1322513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11874109 SOX9 SRY-box transcription factor 9 gene DOID:9006314 Bent Bone Dysplasia Syndrome ISO RGD:1322513 D RGD:8554872 20221018 ClinVar ClinVar Annotator: match by term: Bent bone dysplasia PMID:25741868 11874109 SOX9 SRY-box transcription factor 9 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1322513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11807034 11874109 SOX9 SRY-box transcription factor 9 gene DOID:9256 colorectal cancer ISO RGD:1322513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 11874119 PANK3 pantothenate kinase 3 gene DOID:0111951 immunodeficiency 40 ISO RGD:1321488 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:26083206|PMID:28492532 11874119 PANK3 pantothenate kinase 3 gene DOID:630 genetic disease ISO RGD:1321488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11874133 TNP2 transition protein 2 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:736031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 11874133 TNP2 transition protein 2 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:736031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 11874133 TNP2 transition protein 2 gene DOID:5812 MHC class II deficiency ISO RGD:736031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11874133 TNP2 transition protein 2 gene DOID:630 genetic disease ISO RGD:736031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11874140 NRL neural retina leucine zipper gene DOID:0060439 lysinuric protein intolerance ISO RGD:1313083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11874140 NRL neural retina leucine zipper gene DOID:0090059 enhanced S-cone syndrome ISO RGD:1313083 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Enhanced S-cone syndrome PMID:11694879|PMID:15591106|PMID:25741868|PMID:27732723|PMID:28492532|PMID:31456290 11874140 NRL neural retina leucine zipper gene DOID:0110397 retinitis pigmentosa 27 ISO RGD:1313083 D RGD:7240710 20180130 OMIM 11874140 NRL neural retina leucine zipper gene DOID:0110397 retinitis pigmentosa 27 ISO RGD:1313083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 27 PMID:10192380|PMID:11039579|PMID:11385710|PMID:11694879|PMID:11879142|PMID:12796249|PMID:15591106|PMID:17335001|PMID:17374726|PMID:21981118|PMID:22334370|PMID:25412400|PMID:25741868|PMID:27732723|PMID:28492532|PMID:29385733|PMID:31456290 11874140 NRL neural retina leucine zipper gene DOID:10584 retinitis pigmentosa ISO RGD:1313083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15591106|PMID:17335001|PMID:23534816|PMID:25741868|PMID:27081294|PMID:27624628|PMID:28492532|PMID:29385733 11874140 NRL neural retina leucine zipper gene DOID:630 genetic disease ISO RGD:1313083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11874140 NRL neural retina leucine zipper gene DOID:8466 retinal degeneration ISO RGD:1313083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15591106 11874140 NRL neural retina leucine zipper gene DOID:8499 night blindness ISO RGD:1313083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12796249|PMID:15591106 11874140 NRL neural retina leucine zipper gene DOID:8501 fundus dystrophy ISO RGD:1313083 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11385710|PMID:17335001|PMID:21981118|PMID:22334370|PMID:25741868|PMID:28492532|PMID:29385733 11874140 NRL neural retina leucine zipper gene DOID:9000265 Specific Granule Deficiency ISO RGD:1313083 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11874140 NRL neural retina leucine zipper gene DOID:9000520 Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial ISO RGD:1313083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PCK2-related neuropathy | ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial PMID:24033266|PMID:25741868|PMID:28492532 11874140 NRL neural retina leucine zipper gene DOID:9001923 Foveal Hypoplasia ISO RGD:1313083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Foveal hypoplasia PMID:25741868|PMID:28492532|PMID:29385733 11874140 NRL neural retina leucine zipper gene DOID:9002610 Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type ISO RGD:1313083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal degeneration, autosomal recessive, clumped pigment type PMID:11694879|PMID:15591106|PMID:17335001|PMID:25412400|PMID:25741868|PMID:28492532 11874140 NRL neural retina leucine zipper gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1313083 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11874159 CCNL1 cyclin L1 gene DOID:630 genetic disease ISO RGD:733406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11874174 TJP1 tight junction protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1314849 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11874174 TJP1 tight junction protein 1 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1314849 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:31690835 11874174 TJP1 tight junction protein 1 gene DOID:1059 intellectual disability ISO RGD:1314849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11874174 TJP1 tight junction protein 1 gene DOID:10825 essential hypertension ISO RGD:1314849 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 11874174 TJP1 tight junction protein 1 gene DOID:12849 autistic disorder ISO RGD:1314849 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 11874174 TJP1 tight junction protein 1 gene DOID:13141 uveitis ISO RGD:1306305 D RGD:9068941 20200609 RGD protein:decreased expression, altered localization: corneal endothelium PMID:18587491|REF_RGD_ID:2325139 11874174 TJP1 tight junction protein 1 gene DOID:13580 cholestasis ISO RGD:1306305 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:18197414|REF_RGD_ID:2325141 11874174 TJP1 tight junction protein 1 gene DOID:13976 peptic esophagitis ISO RGD:1306305 D RGD:9068941 20200609 RGD PMID:19653339|REF_RGD_ID:2325133 11874174 TJP1 tight junction protein 1 gene DOID:1932 Angelman syndrome ISO RGD:1314849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome 11874174 TJP1 tight junction protein 1 gene DOID:2316 brain ischemia ISO RGD:1306305 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:19712057|REF_RGD_ID:2325131 11874174 TJP1 tight junction protein 1 gene DOID:4606 bile duct cancer ISO RGD:1314849 D RGD:9068941 20200609 RGD protein:decreased expression:bile duct PMID:19184677|REF_RGD_ID:2325030 11874174 TJP1 tight junction protein 1 gene DOID:4724 brain edema ISO RGD:1314849 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cerebral edema PMID:25741868 11874174 TJP1 tight junction protein 1 gene DOID:4948 gallbladder carcinoma ISO RGD:1314849 D RGD:9068941 20200609 RGD protein:decreased expression:gallbladder PMID:19184677|REF_RGD_ID:2325030 11874174 TJP1 tight junction protein 1 gene DOID:5419 schizophrenia ISO RGD:1314849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11874174 TJP1 tight junction protein 1 gene DOID:630 genetic disease ISO RGD:1314849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11874174 TJP1 tight junction protein 1 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1306305 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:19390485|REF_RGD_ID:2317627 11874174 TJP1 tight junction protein 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:1306305 D RGD:9068941 20200609 RGD protein:altered localization PMID:18854840|REF_RGD_ID:2325137 11874174 TJP1 tight junction protein 1 gene DOID:9000641 Pain ISO RGD:1306305 D RGD:9068941 20200609 RGD associated with Inflammation;protein:increased expression:brain PMID:19319146|REF_RGD_ID:2325136 11874174 TJP1 tight junction protein 1 gene DOID:9000998 Brain Injuries ISO RGD:1306305 D RGD:9068941 20200609 RGD PMID:19889224|REF_RGD_ID:2325128 11874174 TJP1 tight junction protein 1 gene DOID:9002457 Experimental Arthritis ISO RGD:1306305 D RGD:9068941 20200609 RGD PMID:18848892|REF_RGD_ID:2325138 11874174 TJP1 tight junction protein 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1306305 D RGD:9068941 20200609 RGD PMID:19929946|REF_RGD_ID:2325127 11874174 TJP1 tight junction protein 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1306305 D RGD:9068941 20200609 RGD protein:decreased expression:brain, endothelial cell PMID:19374856|REF_RGD_ID:2325135 11874174 TJP1 tight junction protein 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1306305 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus PMID:16567508|REF_RGD_ID:2325150 11874174 TJP1 tight junction protein 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1314850 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus PMID:16567508|REF_RGD_ID:2325150 11874174 TJP1 tight junction protein 1 gene DOID:936 brain disease ISO RGD:1306305 D RGD:9068941 20200609 RGD associate with Pancreatitis, Acute Necrotizing PMID:19712057|REF_RGD_ID:2325131 11874270 KLK2 kallikrein related peptidase 2 gene DOID:630 genetic disease ISO RGD:1346385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11874270 KLK2 kallikrein related peptidase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15643194|PMID:17085659 11874288 VEZF1 vascular endothelial zinc finger 1 gene DOID:0050777 Joubert syndrome ISO RGD:1317608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11874288 VEZF1 vascular endothelial zinc finger 1 gene DOID:1059 intellectual disability ISO RGD:1317608 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11874288 VEZF1 vascular endothelial zinc finger 1 gene DOID:630 genetic disease ISO RGD:1317608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11874288 VEZF1 vascular endothelial zinc finger 1 gene DOID:9006997 Dilated Cardiomyopathy 1OO ISO RGD:1317608 D RGD:7240710 20230505 OMIM 11874288 VEZF1 vascular endothelial zinc finger 1 gene DOID:9006997 Dilated Cardiomyopathy 1OO ISO RGD:1317608 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1OO PMID:36657711 11874302 TSPAN2 tetraspanin 2 gene DOID:0080690 RASopathy ISO RGD:1344307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11874302 TSPAN2 tetraspanin 2 gene DOID:630 genetic disease ISO RGD:1344307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11874302 TSPAN2 tetraspanin 2 gene DOID:9007096 Stroke ISO RGD:1344307 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 11874318 RACK1 receptor for activated C kinase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:733289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 11874318 RACK1 receptor for activated C kinase 1 gene DOID:224 transient cerebral ischemia ISO RGD:69229 D RGD:9068941 20200609 RGD PMID:24007266|REF_RGD_ID:9588303 11874318 RACK1 receptor for activated C kinase 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:733289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 11874334 MAPKAPK3 MAPK activated protein kinase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 11874334 MAPKAPK3 MAPK activated protein kinase 3 gene DOID:0060863 patterned macular dystrophy ISO RGD:1312732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11874334 MAPKAPK3 MAPK activated protein kinase 3 gene DOID:0060865 patterned macular dystrophy 3 ISO RGD:1312732 D RGD:7240710 20190315 OMIM 11874334 MAPKAPK3 MAPK activated protein kinase 3 gene DOID:0060865 patterned macular dystrophy 3 ISO RGD:1312732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Patterned macular dystrophy 3 PMID:26744326 11874334 MAPKAPK3 MAPK activated protein kinase 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 11874334 MAPKAPK3 MAPK activated protein kinase 3 gene DOID:12365 malaria ISO RGD:1312732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malaria, susceptibility to PMID:20484391 11874334 MAPKAPK3 MAPK activated protein kinase 3 gene DOID:399 tuberculosis ISO RGD:1312732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberculosis, susceptibility to PMID:20484391 11874334 MAPKAPK3 MAPK activated protein kinase 3 gene DOID:630 genetic disease ISO RGD:1312732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11874334 MAPKAPK3 MAPK activated protein kinase 3 gene DOID:9005036 Bacteremia ISO RGD:1312732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bacteremia, susceptibility to, 2 PMID:20484391 11874352 RIOX2 ribosomal oxygenase 2 gene DOID:630 genetic disease ISO RGD:1602998 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11874352 RIOX2 ribosomal oxygenase 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1602998 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15897898 11874366 TCL1B TCL1 family AKT coactivator B gene DOID:14330 Parkinson's disease ISO RGD:1346019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 11874366 TCL1B TCL1 family AKT coactivator B gene DOID:630 genetic disease ISO RGD:1346019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11874366 TCL1B TCL1 family AKT coactivator B gene DOID:9000965 Neoplasm Metastasis ISO RGD:1346019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228224 11874366 TCL1B TCL1 family AKT coactivator B gene DOID:9008939 Breast Neoplasms ISO RGD:1346019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228224 11874374 REPS1 RALBP1 associated Eps domain containing 1 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1316142 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 11874374 REPS1 RALBP1 associated Eps domain containing 1 gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1316142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:29395073 11874374 REPS1 RALBP1 associated Eps domain containing 1 gene DOID:630 genetic disease ISO RGD:1316142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11874374 REPS1 RALBP1 associated Eps domain containing 1 gene DOID:9009152 Neurodegeneration with Brain Iron Accumulation 7 ISO RGD:1316142 D RGD:7240710 20190315 OMIM 11874374 REPS1 RALBP1 associated Eps domain containing 1 gene DOID:9009152 Neurodegeneration with Brain Iron Accumulation 7 ISO RGD:1316142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 7 PMID:25741868|PMID:28492532|PMID:29395073 11874399 SLC14A1 solute carrier family 14 member 1 (Kidd blood group) gene DOID:0060356 Vici syndrome ISO RGD:1354455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 11874399 SLC14A1 solute carrier family 14 member 1 (Kidd blood group) gene DOID:1059 intellectual disability ISO RGD:1354455 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11874399 SLC14A1 solute carrier family 14 member 1 (Kidd blood group) gene DOID:1098 fetal erythroblastosis ISO RGD:1354455 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: BLOOD GROUP--KIDD SYSTEM 11874399 SLC14A1 solute carrier family 14 member 1 (Kidd blood group) gene DOID:630 genetic disease ISO RGD:1354455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11874399 SLC14A1 solute carrier family 14 member 1 (Kidd blood group) gene DOID:718 autoimmune hemolytic anemia ISO RGD:1354455 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6427987 11874399 SLC14A1 solute carrier family 14 member 1 (Kidd blood group) gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1354455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 11874429 TNFRSF4 TNF receptor superfamily member 4 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:737374 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11874429 TNFRSF4 TNF receptor superfamily member 4 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:737374 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11874429 TNFRSF4 TNF receptor superfamily member 4 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:737374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11874429 TNFRSF4 TNF receptor superfamily member 4 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:737374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11874429 TNFRSF4 TNF receptor superfamily member 4 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:737374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11874429 TNFRSF4 TNF receptor superfamily member 4 gene DOID:0110994 Joubert syndrome 25 ISO RGD:737374 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11874429 TNFRSF4 TNF receptor superfamily member 4 gene DOID:0111934 immunodeficiency 38 ISO RGD:737374 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11874429 TNFRSF4 TNF receptor superfamily member 4 gene DOID:0111935 immunodeficiency 16 ISO RGD:737374 D RGD:7240710 20180130 OMIM 11874429 TNFRSF4 TNF receptor superfamily member 4 gene DOID:0111935 immunodeficiency 16 ISO RGD:737374 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:16199547|PMID:17576681|PMID:19492091|PMID:21031596|PMID:23897980|PMID:24033266|PMID:25741868|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9536098|PMID:9683594 11874429 TNFRSF4 TNF receptor superfamily member 4 gene DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 ISO RGD:737374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures PMID:28492532 11874429 TNFRSF4 TNF receptor superfamily member 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:737374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 11874429 TNFRSF4 TNF receptor superfamily member 4 gene DOID:3744 cervical squamous cell carcinoma severity ISO RGD:737374 D RGD:9068941 20200807 RGD PMID:28086903|REF_RGD_ID:38455996 11874429 TNFRSF4 TNF receptor superfamily member 4 gene DOID:417 autoimmune disease ISO RGD:737374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9766631 11874429 TNFRSF4 TNF receptor superfamily member 4 gene DOID:630 genetic disease ISO RGD:737374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11874429 TNFRSF4 TNF receptor superfamily member 4 gene DOID:820 myocarditis ISO RGD:737374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 11874429 TNFRSF4 TNF receptor superfamily member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11874429 TNFRSF4 TNF receptor superfamily member 4 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:737374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11874429 TNFRSF4 TNF receptor superfamily member 4 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:737374 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11874429 TNFRSF4 TNF receptor superfamily member 4 gene DOID:934 viral infectious disease ISO RGD:737374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 11874439 SHCBP1 SHC binding and spindle associated 1 gene DOID:0080600 COVID-19 ISO RGD:1354140 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11874439 SHCBP1 SHC binding and spindle associated 1 gene DOID:5485 synovial sarcoma ISO RGD:1354140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27572315 11874439 SHCBP1 SHC binding and spindle associated 1 gene DOID:630 genetic disease ISO RGD:1354140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11874439 SHCBP1 SHC binding and spindle associated 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1354140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11874456 TEDC2 tubulin epsilon and delta complex 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1604787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 11874456 TEDC2 tubulin epsilon and delta complex 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604787 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11874456 TEDC2 tubulin epsilon and delta complex 2 gene DOID:1826 epilepsy ISO RGD:1604787 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11874456 TEDC2 tubulin epsilon and delta complex 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11874456 TEDC2 tubulin epsilon and delta complex 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1604787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11874490 KRT13 keratin 13 gene DOID:0050448 white sponge nevus ISO RGD:1332221 D RGD:9068941 20230202 MouseDO OMIM:193900 | OMIM:615785 11874490 KRT13 keratin 13 gene DOID:0050448 white sponge nevus ISO RGD:1349257 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism 11874490 KRT13 keratin 13 gene DOID:0081287 white sponge nevus 1 ISO RGD:1349257 D RGD:8554872 20230131 ClinVar ClinVar Annotator: match by term: White sponge nevus 1 11874490 KRT13 keratin 13 gene DOID:0081288 white sponge nevus 2 ISO RGD:1349257 D RGD:7240710 20230201 OMIM 11874490 KRT13 keratin 13 gene DOID:0081288 white sponge nevus 2 ISO RGD:1349257 D RGD:8554872 20230131 ClinVar ClinVar Annotator: match by term: White sponge nevus 2 PMID:14600690|PMID:25741868|PMID:28492532|PMID:7493031|PMID:7532199 11874490 KRT13 keratin 13 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1349257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 11874490 KRT13 keratin 13 gene DOID:630 genetic disease ISO RGD:1349257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11874490 KRT13 keratin 13 gene DOID:9007168 Genetic Skin Diseases susceptibility ISO RGD:1349257 D RGD:9068941 20200609 RGD DNA:missense mutation: ; white sponge nevus, OMIM:193900 PMID:7493031|REF_RGD_ID:1304472 11874510 LOC100977138 olfactory receptor 2A12 gene DOID:630 genetic disease ISO RGD:1346557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11874515 FES FES proto-oncogene, tyrosine kinase gene DOID:0050671 female breast cancer onset ISO RGD:1319653 D RGD:9068941 20220811 RGD PMID:15867340|REF_RGD_ID:153323296 11874515 FES FES proto-oncogene, tyrosine kinase gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1319652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 11874515 FES FES proto-oncogene, tyrosine kinase gene DOID:2717 Bloom syndrome ISO RGD:1319652 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11874515 FES FES proto-oncogene, tyrosine kinase gene DOID:3393 coronary artery disease ISO RGD:1319652 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 11874515 FES FES proto-oncogene, tyrosine kinase gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:1319652 D RGD:9068941 20220811 RGD DNA:hypermethylation: (human) PMID:24936140|REF_RGD_ID:153323298 11874515 FES FES proto-oncogene, tyrosine kinase gene DOID:3910 lung adenocarcinoma treatment ISO RGD:1319652 D RGD:9068941 20220811 RGD human cells in a mouse model PMID:31573955|REF_RGD_ID:153323295 11874515 FES FES proto-oncogene, tyrosine kinase gene DOID:630 genetic disease ISO RGD:1319652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11874515 FES FES proto-oncogene, tyrosine kinase gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1319652 D RGD:9068941 20220811 RGD DNA:hypermethylation:promoter (human) PMID:31038805|REF_RGD_ID:153323297 11874541 ECHDC3 enoyl-CoA hydratase domain containing 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1351756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11874541 ECHDC3 enoyl-CoA hydratase domain containing 3 gene DOID:0080600 COVID-19 ISO RGD:1351756 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11874541 ECHDC3 enoyl-CoA hydratase domain containing 3 gene DOID:630 genetic disease ISO RGD:1351756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11874566 MRFAP1L1 Morf4 family associated protein 1 like 1 gene DOID:630 genetic disease ISO RGD:1605595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11874574 ZSWIM8 zinc finger SWIM-type containing 8 gene DOID:630 genetic disease ISO RGD:1344378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11874603 IL11 interleukin 11 gene DOID:1679 cystitis ISO RGD:736550 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17980069 11874603 IL11 interleukin 11 gene DOID:3525 middle cerebral artery infarction ISO RGD:736550 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25257527 11874603 IL11 interleukin 11 gene DOID:409 liver disease ISO RGD:736550 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16964402 11874603 IL11 interleukin 11 gene DOID:630 genetic disease ISO RGD:736550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11874603 IL11 interleukin 11 gene DOID:9000197 Edema ISO RGD:736550 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17980069 11874603 IL11 interleukin 11 gene DOID:9003281 Spontaneous Abortions ISO RGD:736550 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11874603 IL11 interleukin 11 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:736550 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069|PMID:30664745 11874603 IL11 interleukin 11 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736550 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11421492 11874603 IL11 interleukin 11 gene DOID:9008217 Hemorrhage ISO RGD:736550 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17980069 11874646 HEATR6 HEAT repeat containing 6 gene DOID:0050777 Joubert syndrome ISO RGD:1606785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11874646 HEATR6 HEAT repeat containing 6 gene DOID:11372 megacolon ISO RGD:1606785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11874646 HEATR6 HEAT repeat containing 6 gene DOID:630 genetic disease ISO RGD:1606785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11874683 CCNO cyclin O gene DOID:0110600 primary ciliary dyskinesia 29 ISO RGD:1346890 D RGD:7240710 20180130 OMIM 11874683 CCNO cyclin O gene DOID:0110600 primary ciliary dyskinesia 29 ISO RGD:1346890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 29 PMID:24747639|PMID:25741868|PMID:28492532|PMID:30067075|PMID:31879361|PMID:31980526|PMID:32367404|PMID:32622824|PMID:331765523 11874683 CCNO cyclin O gene DOID:2320 obstructive lung disease ISO RGD:1346890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747639 11874683 CCNO cyclin O gene DOID:630 genetic disease ISO RGD:1346890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11874683 CCNO cyclin O gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11874683 CCNO cyclin O gene DOID:9562 primary ciliary dyskinesia ISO RGD:1346890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:24033266|PMID:24747639|PMID:25741868|PMID:26139845|PMID:26777464|PMID:28492532|PMID:30067075|PMID:31650533|PMID:31879361|PMID:31980526|PMID:32367404|PMID:32622824|PMID:331765523|PMID:9536098 11874690 RAD17 RAD17 checkpoint clamp loader component gene DOID:630 genetic disease ISO RGD:1319895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11874690 RAD17 RAD17 checkpoint clamp loader component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11874733 GTF2A2 general transcription factor IIA subunit 2 gene DOID:2717 Bloom syndrome ISO RGD:737167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11874733 GTF2A2 general transcription factor IIA subunit 2 gene DOID:630 genetic disease ISO RGD:737167 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11874733 GTF2A2 general transcription factor IIA subunit 2 gene DOID:9256 colorectal cancer ISO RGD:737167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11874755 SPINT2 serine peptidase inhibitor, Kunitz type 2 gene DOID:0060781 congenital secretory sodium diarrhea 3 ISO RGD:1351424 D RGD:7240710 20180130 OMIM 11874755 SPINT2 serine peptidase inhibitor, Kunitz type 2 gene DOID:0060781 congenital secretory sodium diarrhea 3 ISO RGD:1351424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital secretory sodium diarrhea 3 PMID:11113072|PMID:17576681|PMID:17786112|PMID:19185281|PMID:20009592|PMID:23689399|PMID:24142340|PMID:25741868|PMID:28492532|PMID:30445423|PMID:9536098 11874755 SPINT2 serine peptidase inhibitor, Kunitz type 2 gene DOID:0080074 neural tube defect ISO RGD:1351424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24722141 11874755 SPINT2 serine peptidase inhibitor, Kunitz type 2 gene DOID:12236 primary biliary cholangitis ISO RGD:1552601 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:21898507|REF_RGD_ID:10043111 11874755 SPINT2 serine peptidase inhibitor, Kunitz type 2 gene DOID:13580 cholestasis ISO RGD:1552601 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:21898507|REF_RGD_ID:10043111 11874755 SPINT2 serine peptidase inhibitor, Kunitz type 2 gene DOID:13608 biliary atresia ISO RGD:1351424 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:21898507|REF_RGD_ID:10043111 11874755 SPINT2 serine peptidase inhibitor, Kunitz type 2 gene DOID:305 carcinoma ISO RGD:1351424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11874755 SPINT2 serine peptidase inhibitor, Kunitz type 2 gene DOID:630 genetic disease ISO RGD:1351424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11874755 SPINT2 serine peptidase inhibitor, Kunitz type 2 gene DOID:780 placenta disease ISO RGD:1351424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24722141 11874755 SPINT2 serine peptidase inhibitor, Kunitz type 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1351424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11874755 SPINT2 serine peptidase inhibitor, Kunitz type 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1351424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11874755 SPINT2 serine peptidase inhibitor, Kunitz type 2 gene DOID:9007023 Prenatal Injuries ISO RGD:1351424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24722141 11874766 CBLL2 Cbl proto-oncogene like 2 gene DOID:0050445 X-linked dominant hypophosphatemic rickets ISO RGD:1345445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets PMID:19513579|PMID:25741868 11874766 CBLL2 Cbl proto-oncogene like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11874766 CBLL2 Cbl proto-oncogene like 2 gene DOID:12849 autistic disorder ISO RGD:1345445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11874766 CBLL2 Cbl proto-oncogene like 2 gene DOID:630 genetic disease ISO RGD:1345445 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11874766 CBLL2 Cbl proto-oncogene like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11874771 HYKK hydroxylysine kinase gene DOID:2717 Bloom syndrome ISO RGD:1606741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11874771 HYKK hydroxylysine kinase gene DOID:630 genetic disease ISO RGD:1606741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11874771 HYKK hydroxylysine kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11874771 HYKK hydroxylysine kinase gene DOID:9256 colorectal cancer ISO RGD:1606741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11874784 TLK2 tousled like kinase 2 gene DOID:1059 intellectual disability ISO RGD:1322082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:31558842 11874784 TLK2 tousled like kinase 2 gene DOID:12849 autistic disorder ISO RGD:1322082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 11874784 TLK2 tousled like kinase 2 gene DOID:630 genetic disease ISO RGD:1322082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11874784 TLK2 tousled like kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11874784 TLK2 tousled like kinase 2 gene DOID:9006249 RADIO-TARTAGLIA SYNDROME ISO RGD:1322082 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Radio-Tartaglia syndrome PMID:25741868 11874784 TLK2 tousled like kinase 2 gene DOID:9008582 Developmental Disease ISO RGD:1322082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11874784 TLK2 tousled like kinase 2 gene DOID:9009194 Autosomal Dominant Intellectual Developmental Disorder 57 ISO RGD:1322082 D RGD:7240710 20190315 OMIM 11874784 TLK2 tousled like kinase 2 gene DOID:9009194 Autosomal Dominant Intellectual Developmental Disorder 57 ISO RGD:1322082 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 57 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 57 | ClinVar Annotator: match by term: TLK2-related neurodevelopmental disorder PMID:25741868|PMID:25741869|PMID:27479843|PMID:28492532|PMID:29861108|PMID:34821460 11874814 PPY pancreatic polypeptide gene DOID:630 genetic disease ISO RGD:737129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11874825 WNT9B Wnt family member 9B gene DOID:0080204 renal hypoplasia ISO RGD:1319983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal hypoplasia PMID:34145744 11874825 WNT9B Wnt family member 9B gene DOID:630 genetic disease ISO RGD:1319983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11874825 WNT9B Wnt family member 9B gene DOID:784 chronic kidney disease ISO RGD:1319983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:34145744 11874825 WNT9B Wnt family member 9B gene DOID:891 progressive myoclonus epilepsy ISO RGD:1319983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:21549339|PMID:28492532 11874834 LRRC37A leucine rich repeat containing 37A gene DOID:0050880 Koolen de Vries syndrome ISO RGD:1605100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Koolen-de Vries syndrome PMID:25741868 11874834 LRRC37A leucine rich repeat containing 37A gene DOID:630 genetic disease ISO RGD:1605100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11874834 LRRC37A leucine rich repeat containing 37A gene DOID:9008939 Breast Neoplasms ISO RGD:1605100 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 11874843 ZFYVE21 zinc finger FYVE-type containing 21 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1322277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11874843 ZFYVE21 zinc finger FYVE-type containing 21 gene DOID:630 genetic disease ISO RGD:1322277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11874857 GPR132 G protein-coupled receptor 132 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1321937 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11874857 GPR132 G protein-coupled receptor 132 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1321937 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 11874857 GPR132 G protein-coupled receptor 132 gene DOID:417 autoimmune disease ISO RGD:1321938 D RGD:9068941 20220825 MouseDO OMIM:109100 | OMIM:607836 | OMIM:613551 11874857 GPR132 G protein-coupled receptor 132 gene DOID:630 genetic disease ISO RGD:1321937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11874873 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1313408 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11874873 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1313408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 11874873 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1313408 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11874873 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:0080600 COVID-19 ISO RGD:1313408 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11874873 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:0111995 immunodeficiency 28 ISO RGD:1313408 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 28 PMID:28492532 11874873 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:10533 viral pneumonia disease_progression ISO RGD:1313409 D RGD:9068941 20200609 RGD PMID:21383977|REF_RGD_ID:5490272 11874873 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:12155 lymphocytic choriomeningitis ISO RGD:732185 D RGD:9068941 20210326 RGD PMID:24760883|REF_RGD_ID:124715479 11874873 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:12155 lymphocytic choriomeningitis disease_progression ISO RGD:1313409 D RGD:9068941 20210326 RGD DNA:mutation: : PMID:28878077|REF_RGD_ID:124715467 11874873 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:1883 hepatitis C resistance ISO RGD:1313408 D RGD:9068941 20200609 RGD PMID:21756311|REF_RGD_ID:5147491 11874873 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:552 pneumonia resistance ISO RGD:1313409 D RGD:9068941 20200609 RGD Cryptococcus (yeast) pneumonia PMID:18566423|REF_RGD_ID:5490275 11874873 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:630 genetic disease ISO RGD:1313408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11874873 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:8704 genital herpes exacerbates ISO RGD:1313409 D RGD:9068941 20210402 RGD PMID:28264883|REF_RGD_ID:125093738 11874873 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:874 bacterial pneumonia severity ISO RGD:1313409 D RGD:9068941 20200609 RGD PMID:19487810|REF_RGD_ID:5490274 11874873 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:9001049 Staphylococcal Pneumonia susceptibility ISO RGD:1313409 D RGD:9068941 20200609 RGD PMID:19603548|REF_RGD_ID:5490273 11874873 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:9004531 Cardiovirus Infections ISO RGD:1305399 D RGD:9068941 20201211 RGD PMID:27999109|REF_RGD_ID:12910492 11874873 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:9004531 Cardiovirus Infections susceptibility ISO RGD:1305399 D RGD:9068941 20200609 RGD PMID:27999109|REF_RGD_ID:12910492 11874873 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1305399 D RGD:9068941 20200609 RGD PMID:27999109|REF_RGD_ID:12910492 11874873 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:9005698 ZTTK Syndrome ISO RGD:1313408 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 11874873 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:9006471 Immunodeficiency 106 ISO RGD:1313408 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 106, susceptibility to viral infections PMID:25741868|PMID:28492532|PMID:31270247|PMID:32960813|PMID:33252644|PMID:34713375|PMID:35091979|PMID:35442418|PMID:35708626 11874873 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:9006471 Immunodeficiency 106 susceptibility ISO RGD:1313408 D RGD:7240710 20220720 OMIM 11874873 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:934 viral infectious disease ISO RGD:1313408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18722370 11874897 SPRTN SprT-like N-terminal domain gene DOID:0111264 Ruijs-Aalfs syndrome ISO RGD:1605027 D RGD:7240710 20180130 OMIM 11874897 SPRTN SprT-like N-terminal domain gene DOID:0111264 Ruijs-Aalfs syndrome ISO RGD:1605027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progeroid features-hepatocellular carcinoma predisposition syndrome PMID:12503110|PMID:25261934|PMID:25741868 11874897 SPRTN SprT-like N-terminal domain gene DOID:1540 parathyroid carcinoma ISO RGD:1605027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11874897 SPRTN SprT-like N-terminal domain gene DOID:3911 progeria ISO RGD:1605027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25261934 11874897 SPRTN SprT-like N-terminal domain gene DOID:630 genetic disease ISO RGD:1605027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11874897 SPRTN SprT-like N-terminal domain gene DOID:684 hepatocellular carcinoma ISO RGD:1605027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25261934 11874897 SPRTN SprT-like N-terminal domain gene DOID:9002981 Genomic Instability ISO RGD:1605027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25261934 11874897 SPRTN SprT-like N-terminal domain gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1605027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 11874897 SPRTN SprT-like N-terminal domain gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11874973 KLHL40 kelch like family member 40 gene DOID:0110930 nemaline myopathy 8 ISO RGD:1313352 D RGD:7240710 20180130 OMIM 11874973 KLHL40 kelch like family member 40 gene DOID:0110930 nemaline myopathy 8 ISO RGD:1313352 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 8 PMID:16199547|PMID:17576681|PMID:23746549|PMID:24033266|PMID:24960163|PMID:25721947|PMID:25741868|PMID:26467025|PMID:26578207|PMID:27528495|PMID:27762439|PMID:28492532|PMID:28973083|PMID:31360996|PMID:32352246|PMID:32403337|PMID:9536098 11874973 KLHL40 kelch like family member 40 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1313352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 11874973 KLHL40 kelch like family member 40 gene DOID:630 genetic disease ISO RGD:1313352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 11874984 WDR36 WD repeat domain 36 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313630 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11874984 WDR36 WD repeat domain 36 gene DOID:0110839 Usher syndrome type 2C ISO RGD:1313630 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2C PMID:15677485|PMID:18172102|PMID:19150991|PMID:22995991|PMID:25333069|PMID:25741868|PMID:28492532 11874984 WDR36 WD repeat domain 36 gene DOID:1067 open-angle glaucoma ISO RGD:1313630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21059646 11874984 WDR36 WD repeat domain 36 gene DOID:1070 primary open angle glaucoma ISO RGD:1313630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:25741868|PMID:28492532 11874984 WDR36 WD repeat domain 36 gene DOID:1070 primary open angle glaucoma no_association ISO RGD:1313630 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.D658G PMID:16876519|REF_RGD_ID:8548466 11874984 WDR36 WD repeat domain 36 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:1313630 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.D658G, N355S, A449T and R529Q (human) PMID:15677485|REF_RGD_ID:8548465 11874984 WDR36 WD repeat domain 36 gene DOID:1686 glaucoma susceptibility ISO RGD:1313630 D RGD:9068941 20200609 RGD DNA:haplotype::rs13153937, rs10038177, rs11241095 (human) PMID:19347049|REF_RGD_ID:8548461 11874984 WDR36 WD repeat domain 36 gene DOID:1686 glaucoma susceptibility ISO RGD:1313630 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:rs10038177(human) PMID:22025897|REF_RGD_ID:8548460 11874984 WDR36 WD repeat domain 36 gene DOID:1686 glaucoma susceptibility ISO RGD:1313630 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.I264V,c.1965-30A>G(human) PMID:17960130|REF_RGD_ID:8548462 11874984 WDR36 WD repeat domain 36 gene DOID:2841 asthma ISO RGD:1313630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19198610 11874984 WDR36 WD repeat domain 36 gene DOID:630 genetic disease ISO RGD:1313630 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11874984 WDR36 WD repeat domain 36 gene DOID:8466 retinal degeneration ISO RGD:1550247 D RGD:9068941 20200609 RGD DNA:deletion:cds: PMID:20631153|REF_RGD_ID:8548464 11874984 WDR36 WD repeat domain 36 gene DOID:9002189 High Myopia ISO RGD:1313630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:28492532 11874984 WDR36 WD repeat domain 36 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11874984 WDR36 WD repeat domain 36 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313630 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11874984 WDR36 WD repeat domain 36 gene DOID:9008133 Glaucoma 1, Open Angle, G ISO RGD:1313630 D RGD:7240710 20180130 OMIM 11874984 WDR36 WD repeat domain 36 gene DOID:9008133 Glaucoma 1, Open Angle, G ISO RGD:1313630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glaucoma 1, open angle, G PMID:15677485|PMID:16723468|PMID:17353431|PMID:17563723|PMID:18172102|PMID:19150991|PMID:22995991|PMID:25333069|PMID:25741868|PMID:28492532 11875010 TMEM184B transmembrane protein 184B gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1315295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11875010 TMEM184B transmembrane protein 184B gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1315295 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11875010 TMEM184B transmembrane protein 184B gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1315295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11875010 TMEM184B transmembrane protein 184B gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1315295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11875010 TMEM184B transmembrane protein 184B gene DOID:630 genetic disease ISO RGD:1315295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11875010 TMEM184B transmembrane protein 184B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:0060369 Parkinson's disease 6 ISO RGD:1346147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:0060578 Noonan syndrome 1 ISO RGD:1346147 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:11438998|PMID:12815606|PMID:22397652|PMID:25731960|PMID:25741868|PMID:28492532 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:0080006 bone development disease ISO RGD:1346147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:10679946|PMID:19500388|PMID:24100244|PMID:25741868|PMID:28492532|PMID:30755392|PMID:3174660 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1346147 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1346147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:0110913 adult hypophosphatasia ISO RGD:1346147 D RGD:7240710 20180130 OMIM 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:0110913 adult hypophosphatasia ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adult hypophosphatasia PMID:10094560|PMID:10332035|PMID:10508980|PMID:10679946|PMID:10839996|PMID:10872988|PMID:11438998|PMID:11479741|PMID:11745997|PMID:11760847|PMID:11855933|PMID:12162492|PMID:12357339|PMID:12412800|PMID:12638946|PMID:12815606|PMID:12920074|PMID:1409720|PMID:15137467|PMID:15300736|PMID:15660230|PMID:15671102|PMID:15694177|PMID:16199547|PMID:16583935|PMID:17212778|PMID:17213282|PMID:17229666|PMID:17253930|PMID:17719863|PMID:17916236|PMID:17922851|PMID:18328985|PMID:18340466|PMID:18455459|PMID:18523927|PMID:18559907|PMID:18769927|PMID:18821074|PMID:18925618|PMID:19232125|PMID:19335222|PMID:19500388|PMID:20049532|PMID:20089612|PMID:20739387|PMID:20924064|PMID:21168482|PMID:21228398|PMID:21713987|PMID:21956185|PMID:22014174|PMID:22397652|PMID:22781519|PMID:22913777|PMID:22995991|PMID:23509830|PMID:23688511|PMID:23791648|PMID:24022022|PMID:24033266|PMID:24100244|PMID:24145968|PMID:24276437|PMID:24569605|PMID:25023282|PMID:25100374|PMID:25716980|PMID:25731960|PMID:25741868|PMID:26272126|PMID:26432670|PMID:26459154|PMID:26467025|PMID:26783040|PMID:27699270|PMID:27777120|PMID:27884173|PMID:27920814|PMID:27998428|PMID:28127875|PMID:28401263|PMID:28436937|PMID:28492530|PMID:28492532|PMID:28506345|PMID:28580391|PMID:28586049|PMID:28749478|PMID:29159075|PMID:29236161|PMID:29354166|PMID:29724887|PMID:30138938|PMID:30283912|PMID:30293248|PMID:30446691|PMID:30555565|PMID:30576866|PMID:30719581|PMID:30979366|PMID:31400546|PMID:31600233|PMID:31641588|PMID:31707452|PMID:3174660|PMID:31760938|PMID:31857675|PMID:32066479|PMID:32160374|PMID:32973344|PMID:33452237|PMID:33549410|PMID:33814268|PMID:33977024|PMID:34000433|PMID:7833929|PMID:8406453|PMID:8675582|PMID:8954059|PMID:9452105|PMID:9562633|PMID:9618260|PMID:9781036|PMID:9814472 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:0110914 infantile hypophosphatasia ISO RGD:1346147 D RGD:7240710 20180130 OMIM 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:0110914 infantile hypophosphatasia ISO RGD:1346147 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Infantile hypophosphatasia PMID:10094560|PMID:10332035|PMID:10508980|PMID:10679946|PMID:10834525|PMID:10839996|PMID:10872988|PMID:11438998|PMID:11479741|PMID:11745997|PMID:11760847|PMID:11810413|PMID:11855933|PMID:11999978|PMID:12162492|PMID:12230456|PMID:12357339|PMID:12412800|PMID:12638946|PMID:12815606|PMID:12920074|PMID:1409720|PMID:15135428|PMID:15137467|PMID:15300736|PMID:15660230|PMID:15671102|PMID:15694177|PMID:15794757|PMID:15840803|PMID:16199547|PMID:16583935|PMID:16769381|PMID:17212778|PMID:17213282|PMID:17229666|PMID:17253930|PMID:17719863|PMID:17916236|PMID:17922851|PMID:18328985|PMID:18340466|PMID:18455459|PMID:18523927|PMID:18559907|PMID:18769927|PMID:18821074|PMID:18925618|PMID:19232125|PMID:19335222|PMID:19500388|PMID:20049532|PMID:20089612|PMID:20383509|PMID:20739387|PMID:20924064|PMID:21168482|PMID:21228398|PMID:21342251|PMID:21713987|PMID:21956185|PMID:22014174|PMID:22322541|PMID:22397652|PMID:22781519|PMID:22913777|PMID:22995991|PMID:23454488|PMID:23509830|PMID:23580367|PMID:23688511|PMID:23926372|PMID:24022022|PMID:24033266|PMID:24100244|PMID:24145968|PMID:24276437|PMID:24334170|PMID:24378058|PMID:24569605|PMID:25023282|PMID:25716980|PMID:25731960|PMID:25736332|PMID:25741868|PMID:26272126|PMID:26432670|PMID:26459154|PMID:26467025|PMID:26783040|PMID:27179278|PMID:27312557|PMID:27699270|PMID:27884173|PMID:27920814|PMID:27998428|PMID:28127875|PMID:28401263|PMID:28436937|PMID:28492530|PMID:28492532|PMID:28506345|PMID:28580391|PMID:28663156|PMID:28749478|PMID:28763161|PMID:28802630|PMID:28939177|PMID:29159075|PMID:29236161|PMID:29354166|PMID:29724887|PMID:29760218|PMID:30049651|PMID:30283912|PMID:30293248|PMID:30576866|PMID:30755392|PMID:30979366|PMID:31400546|PMID:31600233|PMID:31641588|PMID:31707452|PMID:3174660|PMID:31760938|PMID:31787692|PMID:31793067|PMID:31857675|PMID:31905439|PMID:32066479|PMID:32112990|PMID:32160374|PMID:32811521|PMID:32973344|PMID:33240318|PMID:33452237|PMID:33549410|PMID:33601892|PMID:33814268|PMID:33977024|PMID:34000433|PMID:35320273|PMID:7833929|PMID:8406453|PMID:8675582|PMID:8954059|PMID:9452105|PMID:9562633|PMID:9618260|PMID:9781036|PMID:9814472|PMID:9844100 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:0110915 childhood hypophosphatasia ISO RGD:1346147 D RGD:7240710 20180130 OMIM 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:0110915 childhood hypophosphatasia ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Childhood hypophosphatasia PMID:10094560|PMID:10332035|PMID:10508980|PMID:10679946|PMID:10839996|PMID:10872988|PMID:11438998|PMID:11479741|PMID:11760847|PMID:11855933|PMID:12162492|PMID:12357339|PMID:12815606|PMID:12920074|PMID:1409720|PMID:15135428|PMID:15300736|PMID:15671102|PMID:15694177|PMID:17213282|PMID:17229666|PMID:17253930|PMID:17719863|PMID:17922851|PMID:18340466|PMID:18523927|PMID:18559907|PMID:19232125|PMID:19335222|PMID:19500388|PMID:20089612|PMID:20739387|PMID:21168482|PMID:21228398|PMID:21713987|PMID:21956185|PMID:22397652|PMID:22913777|PMID:22995991|PMID:24022022|PMID:24033266|PMID:24276437|PMID:24378058|PMID:24569605|PMID:25023282|PMID:25716980|PMID:25731960|PMID:25736332|PMID:25741868|PMID:26272126|PMID:26432670|PMID:26467025|PMID:26783040|PMID:27179278|PMID:27884173|PMID:27920814|PMID:28127875|PMID:28401263|PMID:28492530|PMID:28492532|PMID:28506345|PMID:28580391|PMID:28663156|PMID:28763161|PMID:29159075|PMID:29236161|PMID:29354166|PMID:29724887|PMID:30249491|PMID:30283912|PMID:30576866|PMID:30719581|PMID:30979366|PMID:31088113|PMID:31641588|PMID:31707452|PMID:3174660|PMID:32160374|PMID:32973344|PMID:33549410|PMID:33814268|PMID:8675582 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:10907 microcephaly ISO RGD:1346147 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:11760847|PMID:12162492|PMID:18455459|PMID:18769927|PMID:18821074|PMID:25023282|PMID:25741868|PMID:28492532|PMID:30293248|PMID:31857675|PMID:32160374|PMID:33452237|PMID:9452105 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:11476 osteoporosis ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteoporosis PMID:10679946|PMID:19500388|PMID:25741868|PMID:28492532|PMID:29236161|PMID:3174660|PMID:32973344 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:12347 osteogenesis imperfecta ISO RGD:1346147 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:10094560|PMID:10332035|PMID:10679946|PMID:10839996|PMID:11438998|PMID:11479741|PMID:11855933|PMID:12357339|PMID:12412800|PMID:12638946|PMID:1409720|PMID:15300736|PMID:15660230|PMID:15671102|PMID:15694177|PMID:16769381|PMID:17229666|PMID:17253930|PMID:17719863|PMID:18523927|PMID:18559907|PMID:18769927|PMID:19232125|PMID:19335222|PMID:19500388|PMID:20089612|PMID:20739387|PMID:21228398|PMID:21956185|PMID:22014174|PMID:22397652|PMID:22913777|PMID:22995991|PMID:23791648|PMID:24022022|PMID:24033266|PMID:24276437|PMID:24378058|PMID:24569605|PMID:25023282|PMID:25731960|PMID:25741868|PMID:26272126|PMID:26432670|PMID:26467025|PMID:26783040|PMID:27884173|PMID:27920814|PMID:28127875|PMID:28492530|PMID:28492532|PMID:28506345|PMID:28580391|PMID:28663156|PMID:29159075|PMID:29236161|PMID:29354166|PMID:30283912|PMID:30576866|PMID:31707452|PMID:32066479|PMID:32160374|PMID:8406453|PMID:8954059|PMID:9618260|PMID:9781036|PMID:9814472 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:12347 osteogenesis imperfecta ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:10094560|PMID:10332035|PMID:10679946|PMID:10839996|PMID:11438998|PMID:11479741|PMID:11855933|PMID:12357339|PMID:12412800|PMID:12638946|PMID:1409720|PMID:15300736|PMID:15660230|PMID:15671102|PMID:15694177|PMID:16769381|PMID:17229666|PMID:17253930|PMID:17719863|PMID:18523927|PMID:18559907|PMID:18769927|PMID:19232125|PMID:19335222|PMID:19500388|PMID:20089612|PMID:20739387|PMID:21228398|PMID:21956185|PMID:22014174|PMID:22397652|PMID:22913777|PMID:22995991|PMID:23791648|PMID:24022022|PMID:24033266|PMID:24276437|PMID:24378058|PMID:24569605|PMID:25023282|PMID:25731960|PMID:25741868|PMID:26272126|PMID:26432670|PMID:26467025|PMID:26783040|PMID:27884173|PMID:27920814|PMID:28127875|PMID:28492530|PMID:28492532|PMID:28506345|PMID:28580391|PMID:28663156|PMID:29159075|PMID:29236161|PMID:29354166|PMID:30049651|PMID:30283912|PMID:30576866|PMID:30719581|PMID:31600233|PMID:31641588|PMID:31707452|PMID:32066479|PMID:32160374|PMID:32973344|PMID:33549410|PMID:33814268|PMID:8406453|PMID:8954059|PMID:9618260|PMID:9781036|PMID:9814472 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:12466 secondary hyperparathyroidism ISO RGD:1346147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22373954 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:13809 familial combined hyperlipidemia ISO RGD:1346147 D RGD:9068941 20200609 RGD PMID:16336518|REF_RGD_ID:1601173 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:14213 hypophosphatasia ISO RGD:1346147 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypophosphatasia PMID:10094560|PMID:10332035|PMID:10508980|PMID:10636450|PMID:10679946|PMID:10839996|PMID:10872988|PMID:11438998|PMID:11479741|PMID:11547844|PMID:11745997|PMID:11760847|PMID:11802776|PMID:11834095|PMID:11855933|PMID:12162492|PMID:12357339|PMID:12412800|PMID:12638946|PMID:12815606|PMID:12920074|PMID:1409720|PMID:15135428|PMID:15137467|PMID:15300736|PMID:15660230|PMID:15671102|PMID:15694177|PMID:15794757|PMID:16199547|PMID:16583935|PMID:16769381|PMID:17212778|PMID:17213282|PMID:17229666|PMID:17253930|PMID:17719863|PMID:17916236|PMID:17922851|PMID:18328985|PMID:18340466|PMID:18455459|PMID:18523927|PMID:18559907|PMID:18769927|PMID:18818947|PMID:18821074|PMID:18925618|PMID:19232125|PMID:19335222|PMID:19500388|PMID:20049532|PMID:20089612|PMID:20383509|PMID:20739387|PMID:20924064|PMID:21168482|PMID:21228398|PMID:21342251|PMID:21713987|PMID:21956185|PMID:22014174|PMID:22322541|PMID:22397652|PMID:22781519|PMID:22913777|PMID:22995991|PMID:23454488|PMID:23509830|PMID:23688511|PMID:23791648|PMID:23926372|PMID:24022022|PMID:24033266|PMID:24100244|PMID:24276437|PMID:24334170|PMID:24378058|PMID:24569605|PMID:25023282|PMID:25716980|PMID:25731960|PMID:25736332|PMID:25741868|PMID:26219717|PMID:26272126|PMID:26432670|PMID:26432671|PMID:26459154|PMID:26467025|PMID:26783040|PMID:26823351|PMID:26896157|PMID:27179278|PMID:27699270|PMID:27777120|PMID:27884173|PMID:27920814|PMID:27998428|PMID:28127875|PMID:28401263|PMID:28436937|PMID:28492530|PMID:28492532|PMID:28506345|PMID:28580391|PMID:28663156|PMID:28749478|PMID:28763161|PMID:28802630|PMID:29159075|PMID:29236161|PMID:29354166|PMID:29724887|PMID:29760218|PMID:30049651|PMID:30249491|PMID:30283912|PMID:30293248|PMID:30576866|PMID:30655187|PMID:30719581|PMID:30755392|PMID:30864637|PMID:31088113|PMID:31146036|PMID:31400546|PMID:31485555|PMID:31600233|PMID:31641588|PMID:31707452|PMID:3174660|PMID:31760938|PMID:31787692|PMID:31793067|PMID:31857675|PMID:31905439|PMID:32112990|PMID:32160374|PMID:32879991|PMID:32973344|PMID:32981126|PMID:32987199|PMID:33191482|PMID:33240318|PMID:33452237|PMID:33549410|PMID:33579333|PMID:33601892|PMID:33814268|PMID:33827627|PMID:33977024|PMID:34000433|PMID:35320273|PMID:7833929|PMID:8406453|PMID:8675582|PMID:8954059|PMID:9452105|PMID:9562633|PMID:9618260|PMID:9781036|PMID:9814472|PMID:9844100 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:14213 hypophosphatasia susceptibility ISO RGD:1346147 D RGD:9068941 20200609 RGD PMID:8406453|REF_RGD_ID:1599076 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:182 calcinosis ISO RGD:1346147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21193197 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:2349 arteriosclerosis ISO RGD:1346147 D RGD:9068941 20200609 RGD protein:decrease expression:serum PMID:17010978|REF_RGD_ID:1601172 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:409 liver disease ISO RGD:1346147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:4676 uremia ISO RGD:2100 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:18288101|REF_RGD_ID:2315619 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:630 genetic disease ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10332035|PMID:10679946|PMID:11438998|PMID:11479741|PMID:11760847|PMID:11855933|PMID:11999978|PMID:12162492|PMID:12357339|PMID:1409720|PMID:15671102|PMID:15694177|PMID:16199547|PMID:16583935|PMID:16769381|PMID:17253930|PMID:17719863|PMID:18455459|PMID:18769927|PMID:18821074|PMID:18925618|PMID:19232125|PMID:19500388|PMID:20739387|PMID:20924064|PMID:21956185|PMID:22014174|PMID:23791648|PMID:24276437|PMID:24569605|PMID:25023282|PMID:25731960|PMID:25741868|PMID:26432670|PMID:26432671|PMID:26467025|PMID:28127875|PMID:28401263|PMID:28436937|PMID:28492532|PMID:29236161|PMID:29620724|PMID:30049651|PMID:30293248|PMID:31600233|PMID:3174660|PMID:31793067|PMID:31857675|PMID:32160374|PMID:32811521|PMID:32973344|PMID:33191482|PMID:33452237|PMID:33549410|PMID:33579333|PMID:33814268|PMID:33977024|PMID:9452105|PMID:9781036 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:65 connective tissue disease ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:8719 in situ carcinoma ISO RGD:1346147 D RGD:9068941 20200609 RGD associated with Testicular Neoplasms;protein:increased expression:testis PMID:10547581|REF_RGD_ID:2315616 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1346147 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:10547581|REF_RGD_ID:2315616 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:9000808 Hypercholesterolemia ISO RGD:2100 D RGD:9068941 20200609 RGD PMID:17403193|REF_RGD_ID:1601171 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:9000927 Alveolar Bone Loss ISO RGD:1346147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20630305 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:9001292 Odontohypophosphatasia ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Low alkaline phosphatase | ClinVar Annotator: match by term: Odontohypophosphatasia PMID:10094560|PMID:10332035|PMID:10679946|PMID:10872988|PMID:11438998|PMID:11479741|PMID:11760847|PMID:11855933|PMID:12162492|PMID:12357339|PMID:12815606|PMID:12920074|PMID:1409720|PMID:15671102|PMID:17576681|PMID:17719863|PMID:18340466|PMID:18455459|PMID:19232125|PMID:19500388|PMID:20739387|PMID:21168482|PMID:24569605|PMID:25716980|PMID:25731960|PMID:25741868|PMID:28492532|PMID:28663156|PMID:29236161|PMID:30719581|PMID:31600233|PMID:31641588|PMID:32160374|PMID:32973344|PMID:33549410|PMID:33814268|PMID:8675582|PMID:9452105|PMID:9536098 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:9002202 Opsismodysplasia ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Delayed skeletal maturation PMID:10332035|PMID:10679946|PMID:11438998|PMID:11855933|PMID:12357339|PMID:1409720|PMID:15671102|PMID:17719863|PMID:19232125|PMID:19500388|PMID:20739387|PMID:24569605|PMID:25731960|PMID:25741868|PMID:28492532|PMID:29236161|PMID:32160374|PMID:32973344|PMID:33549410 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1346147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26773408 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:9003004 MICROMELIA ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Micromelia PMID:25741868|PMID:28492532|PMID:29160033|PMID:31146036 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:9004649 Heat Stroke ISO RGD:1346147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16878031 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:9004919 Perinatal Lethal Hypophosphatasia ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perinatal lethal hypophosphatasia PMID:10679946|PMID:11745997|PMID:16199547|PMID:18925618|PMID:19232125|PMID:19500388|PMID:23454488|PMID:23688511|PMID:25731960|PMID:25741868|PMID:26467025|PMID:27699270|PMID:27998428|PMID:28401263|PMID:28436937|PMID:28492532|PMID:29236161|PMID:31400546|PMID:3174660|PMID:32160374|PMID:32973344|PMID:33601892|PMID:33814268|PMID:9781036 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:9006205 Animal Disease Models ISO RGD:1346147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27466191 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1346147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:1346147 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16249437|REF_RGD_ID:1601174 11875046 ALPL alkaline phosphatase, biomineralization associated gene DOID:9452 fatty liver disease ISO RGD:1346147 D RGD:9068941 20200609 RGD associated with obesity PMID:16197789|REF_RGD_ID:1601177 11875089 HSPBP1 HSPA (Hsp70) binding protein 1 gene DOID:630 genetic disease ISO RGD:734029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11875099 TNS2 tensin 2 gene DOID:0060852 Pierson syndrome ISO RGD:1615728 D RGD:9068941 20220825 MouseDO OMIM:609049 11875099 TNS2 tensin 2 gene DOID:1184 nephrotic syndrome ISO RGD:1322097 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:29773874 11875099 TNS2 tensin 2 gene DOID:630 genetic disease ISO RGD:1322097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29773874 11875141 DMWD DM1 locus, WD repeat containing gene DOID:630 genetic disease ISO RGD:1346083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11875168 STARD3NL STARD3 N-terminal like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11875168 STARD3NL STARD3 N-terminal like gene DOID:630 genetic disease ISO RGD:1318520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:0060072 benign neoplasm ISO RGD:735435 D RGD:9068941 20230427 RGD DNA:SNP:exon:p.R213H, 638G>A (human) PMID:16402077|REF_RGD_ID:1581451 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:735435 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:0080074 neural tube defect ISO RGD:735435 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:24307569 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:0080600 COVID-19 ISO RGD:735435 D RGD:9068941 20230427 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:10283 prostate cancer ISO RGD:735435 D RGD:9068941 20230427 RGD DNA, protein:SNP, increased activity:CDS:SULT1A1*1 high activity allele associated with higher prostate cancer risk, risk increases with increased consumption of well-done meat PMID:14973106|REF_RGD_ID:1581454 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:10283 prostate cancer no_association ISO RGD:735435 D RGD:9068941 20230427 RGD DNA:SNP:CDS:no association with the 638G->A, amino acid R213H polymorphism in a Japanese population PMID:18368507|REF_RGD_ID:2301050 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:10534 stomach cancer susceptibility ISO RGD:735435 D RGD:9068941 20230427 RGD DNA:missense mutation:cds:p.R213H (human) PMID:16137826|REF_RGD_ID:1581452 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:11054 urinary bladder cancer ISO RGD:735435 D RGD:9068941 20230427 RGD DNA:SNP:CDS:reduced risk associated with the His allele of the R213H polymorphism in women, particularly in those with no history of smoking PMID:14643027|REF_RGD_ID:1581442 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:1324 lung cancer ISO RGD:735435 D RGD:9068941 20230427 RGD DNA:SNP:exon:p.R213H, 638G>A (human) PMID:14688021|REF_RGD_ID:1581441 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:1380 endometrial cancer ISO RGD:735435 D RGD:9068941 20230427 RGD PMID:16985250|REF_RGD_ID:1581436 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735435 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:1612 breast cancer ISO RGD:735435 D RGD:9068941 20230427 RGD DNA:SNP:exon:p.R213H (human) PMID:16175316|REF_RGD_ID:1581438 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:735435 D RGD:9068941 20230427 RGD DNA:SNP:exon:p.R213H, 638G>A (human) PMID:12455060|REF_RGD_ID:1581448 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:735435 D RGD:9068941 20230427 RGD DNA:SNP:exon:p.R213H, 638G>A (human) PMID:14688021|REF_RGD_ID:1581441 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:3910 lung adenocarcinoma ISO RGD:735435 D RGD:9068941 20230427 RGD DNA:SNP:exon:p.R213H, 638G>A (human) PMID:14688021|REF_RGD_ID:1581441 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:5419 schizophrenia ISO RGD:735435 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:630 genetic disease ISO RGD:735435 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735435 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:14973106 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:735435 D RGD:9068941 20230427 RGD DNA:SNP::reduced frequency of SULT1A1*2 A allele in patients PMID:18497059|REF_RGD_ID:2301045 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:9002801 Recurrence ISO RGD:735435 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:30120701 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:735435 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:9002981 Genomic Instability ISO RGD:735435 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:28326452 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:9004643 Urologic Neoplasms ISO RGD:735435 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:18006944 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:9004643 Urologic Neoplasms ISO RGD:735435 D RGD:9068941 20230427 RGD Urothelial neoplasms; DNA:SNP:CDS:codon213, G/G genotype, risk increases with history of smoking and/or if combined with NQO1 C/T or T/T genotype PMID:17619904|REF_RGD_ID:2301044 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:9004814 Chromosome Aberrations ISO RGD:735435 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:16537716 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:9006024 Hypotension ISO RGD:3767 D RGD:9068941 20230427 RGD mRNA:increased expression:kidney PMID:15942020|REF_RGD_ID:1625563 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:735435 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:735435 D RGD:9068941 20230427 RGD DNA:SNP:CDS, 3'-UTR:rs9282861, rs6839 and rs1042157, alone or in combination with each other, also rs9282861 (GA + AA) combined with CYP1A1 SNP rs4646903 (TT) or with SULT1E1 SNP rs3736599 (GA+AA) PMID:18318428|REF_RGD_ID:2301040 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:9007715 Endometrial Neoplasms no_association ISO RGD:735435 D RGD:9068941 20230427 RGD DNA:SNP::no difference in allele distribution or genotype between patients and controls PMID:18497059|REF_RGD_ID:2301045 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:9008443 Colorectal Neoplasms onset ISO RGD:735435 D RGD:9068941 20230427 RGD PMID:11692076|REF_RGD_ID:1581449 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735435 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:30120701 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735435 D RGD:9068941 20230427 RGD PMID:16328031|REF_RGD_ID:1581437 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735435 D RGD:9068941 20230427 RGD DNA:SNP:CDS:His allele 13.6% in patients vs 9.5% in controls (p=0.03) in a Chinese population PMID:16875543|REF_RGD_ID:2301046 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:735435 D RGD:9068941 20230427 RGD DNA:SNP:CDS:R213H associated with lymph node metastases (p=0.002) but not overall risk PMID:15377847|REF_RGD_ID:2301048 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:9008939 Breast Neoplasms no_association ISO RGD:735435 D RGD:9068941 20230427 RGD DNA:SNP::no association between any SULT1A1 genotypes and breast cancer risk in a Russian population PMID:16637266|REF_RGD_ID:2301047 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:9008939 Breast Neoplasms no_association ISO RGD:735435 D RGD:9068941 20230427 RGD DNA:SNP:CDS:R213H allele frequency and genotype distributions the same in postmenopausal breast cancer patients and controls PMID:16080486|REF_RGD_ID:2301049 11875199 SULT1A1 sulfotransferase family 1A member 1 gene DOID:9008939 Breast Neoplasms onset ISO RGD:735435 D RGD:9068941 20230427 RGD DNA:SNP::SULT1A2*2 associated with age of onset in early-onset patients (p=0.021) PMID:12373301|REF_RGD_ID:2301051 11875200 ZNF804B zinc finger protein 804B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11875200 ZNF804B zinc finger protein 804B gene DOID:630 genetic disease ISO RGD:1601814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11875209 CLTRN collectrin, amino acid transport regulator gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11875209 CLTRN collectrin, amino acid transport regulator gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1354044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 11875209 CLTRN collectrin, amino acid transport regulator gene DOID:12849 autistic disorder ISO RGD:1354044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11875209 CLTRN collectrin, amino acid transport regulator gene DOID:13636 Fanconi anemia ISO RGD:1354044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 11875209 CLTRN collectrin, amino acid transport regulator gene DOID:5199 ureteral obstruction ISO RGD:1354044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12887829 11875209 CLTRN collectrin, amino acid transport regulator gene DOID:630 genetic disease ISO RGD:1354044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11875209 CLTRN collectrin, amino acid transport regulator gene DOID:684 hepatocellular carcinoma ISO RGD:1354044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11875209 CLTRN collectrin, amino acid transport regulator gene DOID:9002207 Renal Aminoacidurias ISO RGD:1354044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aminoaciduria 11875209 CLTRN collectrin, amino acid transport regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11875219 DLL1 delta like canonical Notch ligand 1 gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:733842 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:25741868 11875219 DLL1 delta like canonical Notch ligand 1 gene DOID:10283 prostate cancer ISO RGD:733842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11875219 DLL1 delta like canonical Notch ligand 1 gene DOID:13375 temporal arteritis ISO RGD:733842 D RGD:9068941 20200609 RGD mRNA:increased expression:temporal artery PMID:21220737|REF_RGD_ID:6482238 11875219 DLL1 delta like canonical Notch ligand 1 gene DOID:4621 holoprosencephaly ISO RGD:733842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alobar holoprosencephaly | ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11875219 DLL1 delta like canonical Notch ligand 1 gene DOID:630 genetic disease ISO RGD:733842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31353024 11875219 DLL1 delta like canonical Notch ligand 1 gene DOID:9001694 NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES ISO RGD:733842 D RGD:7240710 20200115 OMIM 11875219 DLL1 delta like canonical Notch ligand 1 gene DOID:9001694 NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES ISO RGD:733842 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures PMID:16718694|PMID:21714819|PMID:25741868|PMID:28492532|PMID:31353024 11875219 DLL1 delta like canonical Notch ligand 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:733843 D RGD:9068941 20200609 RGD PMID:17947672|REF_RGD_ID:6482235 11875219 DLL1 delta like canonical Notch ligand 1 gene DOID:9006190 Chronic Pancreatitis ISO RGD:733842 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:pancreas PMID:17114010|REF_RGD_ID:6482236 11875219 DLL1 delta like canonical Notch ligand 1 gene DOID:9007502 Brain Neoplasms ISO RGD:733842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 11875219 DLL1 delta like canonical Notch ligand 1 gene DOID:9008939 Breast Neoplasms ISO RGD:733842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 11875234 TSPYL2 TSPY like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11875234 TSPYL2 TSPY like 2 gene DOID:12849 autistic disorder ISO RGD:1346364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11875234 TSPYL2 TSPY like 2 gene DOID:630 genetic disease ISO RGD:1346364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11875234 TSPYL2 TSPY like 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1346364 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 11875244 ADAMTSL1 ADAMTS like 1 gene DOID:630 genetic disease ISO RGD:1315056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11875281 LOC100974858 core histone macro-H2A.1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:736206 D RGD:9068941 20220825 MouseDO OMIM:614286 11875281 LOC100974858 core histone macro-H2A.1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731902 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11875281 LOC100974858 core histone macro-H2A.1 gene DOID:630 genetic disease ISO RGD:731902 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11875281 LOC100974858 core histone macro-H2A.1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11875281 LOC100974858 core histone macro-H2A.1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 11875281 LOC100974858 core histone macro-H2A.1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731902 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11875306 SYK spleen associated tyrosine kinase gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:736160 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33782605 11875306 SYK spleen associated tyrosine kinase gene DOID:0060180 colitis ISO RGD:736160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colitis PMID:25741868|PMID:28492532|PMID:33782605 11875306 SYK spleen associated tyrosine kinase gene DOID:1909 melanoma ISO RGD:736160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 11875306 SYK spleen associated tyrosine kinase gene DOID:2723 dermatitis ISO RGD:736160 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33782605 11875306 SYK spleen associated tyrosine kinase gene DOID:2843 long QT syndrome ISO RGD:736160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11875306 SYK spleen associated tyrosine kinase gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:3796 D RGD:9068941 20200609 RGD PMID:21894146|REF_RGD_ID:6218988 11875306 SYK spleen associated tyrosine kinase gene DOID:630 genetic disease ISO RGD:736160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11875306 SYK spleen associated tyrosine kinase gene DOID:848 arthritis ISO RGD:736160 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33782605 11875306 SYK spleen associated tyrosine kinase gene DOID:9003566 Mesothelioma ISO RGD:736160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659810 11875306 SYK spleen associated tyrosine kinase gene DOID:9004738 Immunodeficiency 82 ISO RGD:736160 D RGD:7240710 20210707 OMIM 11875306 SYK spleen associated tyrosine kinase gene DOID:9004738 Immunodeficiency 82 ISO RGD:736160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 82 with systemic inflammation PMID:25741868|PMID:28492532|PMID:33782605 11875326 COQ9 coenzyme Q9 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603980 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11875326 COQ9 coenzyme Q9 gene DOID:0050730 coenzyme Q10 deficiency disease ISO RGD:1603980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary 11875326 COQ9 coenzyme Q9 gene DOID:0070242 primary coenzyme Q10 deficiency 5 ISO RGD:1603980 D RGD:7240710 20180130 OMIM 11875326 COQ9 coenzyme Q9 gene DOID:0070242 primary coenzyme Q10 deficiency 5 ISO RGD:1603980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome PMID:16199547|PMID:19375058|PMID:20495179|PMID:20689595|PMID:22490322|PMID:23255162|PMID:25741868|PMID:25802402|PMID:26081641|PMID:27629047|PMID:28492532|PMID:28736527|PMID:29255295|PMID:30482867 11875326 COQ9 coenzyme Q9 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603980 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11875326 COQ9 coenzyme Q9 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1603980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11875326 COQ9 coenzyme Q9 gene DOID:630 genetic disease ISO RGD:1603980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:27629047|PMID:28492532|PMID:9536098 11875326 COQ9 coenzyme Q9 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603980 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11875352 ADAM10 ADAM metallopeptidase domain 10 gene DOID:0050700 cardiomyopathy ISO RGD:2032 D RGD:9068941 20200609 RGD PMID:24244825|REF_RGD_ID:13702879 11875352 ADAM10 ADAM metallopeptidase domain 10 gene DOID:0060256 Dowling-Degos disease ISO RGD:735847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11875352 ADAM10 ADAM metallopeptidase domain 10 gene DOID:0060258 reticulate acropigmentation of Kitamura ISO RGD:735847 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Reticulate acropigmentation of Kitamura PMID:23666529|PMID:25741868|PMID:28492532 11875352 ADAM10 ADAM metallopeptidase domain 10 gene DOID:0060258 reticulate acropigmentation of Kitamura susceptibility ISO RGD:735847 D RGD:7240710 20230517 OMIM 11875352 ADAM10 ADAM metallopeptidase domain 10 gene DOID:0081292 traumatic brain injury ISO RGD:2032 D RGD:9068941 20200609 RGD PMID:22489706|REF_RGD_ID:13703033 11875352 ADAM10 ADAM metallopeptidase domain 10 gene DOID:0110050 Alzheimer's disease 18 ISO RGD:735847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease 18 PMID:19608551|PMID:24055016 11875352 ADAM10 ADAM metallopeptidase domain 10 gene DOID:0110050 Alzheimer's disease 18 susceptibility ISO RGD:735847 D RGD:7240710 20230517 OMIM 11875352 ADAM10 ADAM metallopeptidase domain 10 gene DOID:10652 Alzheimer's disease ISO RGD:2032 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex, hippocampus PMID:23296102|PMID:24792732|REF_RGD_ID:13703032|REF_RGD_ID:13703037 11875352 ADAM10 ADAM metallopeptidase domain 10 gene DOID:10652 Alzheimer's disease ISO RGD:735847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30820047 11875352 ADAM10 ADAM metallopeptidase domain 10 gene DOID:1074 kidney failure ISO RGD:735847 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32715474 11875352 ADAM10 ADAM metallopeptidase domain 10 gene DOID:14004 thoracic aortic aneurysm ISO RGD:2032 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:20621845|REF_RGD_ID:5129489 11875352 ADAM10 ADAM metallopeptidase domain 10 gene DOID:1824 status epilepticus ISO RGD:2032 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus PMID:15950787|REF_RGD_ID:1559151 11875352 ADAM10 ADAM metallopeptidase domain 10 gene DOID:2717 Bloom syndrome ISO RGD:735847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11875352 ADAM10 ADAM metallopeptidase domain 10 gene DOID:2986 IgA glomerulonephritis ISO RGD:735847 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32715474 11875352 ADAM10 ADAM metallopeptidase domain 10 gene DOID:5199 ureteral obstruction ISO RGD:735848 D RGD:9068941 20200609 RGD PMID:24103556|REF_RGD_ID:13703030 11875352 ADAM10 ADAM metallopeptidase domain 10 gene DOID:630 genetic disease ISO RGD:735847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11875352 ADAM10 ADAM metallopeptidase domain 10 gene DOID:83 cataract ISO RGD:2032 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:23941810|REF_RGD_ID:13703031 11875352 ADAM10 ADAM metallopeptidase domain 10 gene DOID:9000784 Fibrosis ISO RGD:735847 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32715474 11875352 ADAM10 ADAM metallopeptidase domain 10 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:735847 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32715474 11875352 ADAM10 ADAM metallopeptidase domain 10 gene DOID:9002457 Experimental Arthritis ISO RGD:2032 D RGD:9068941 20200609 RGD PMID:23897050|REF_RGD_ID:13703039 11875352 ADAM10 ADAM metallopeptidase domain 10 gene DOID:9002775 Cognitive Dysfunction ISO RGD:2032 D RGD:9068941 20200609 RGD associated with Sleep Deprivation PMID:28455102|REF_RGD_ID:13782059 11875352 ADAM10 ADAM metallopeptidase domain 10 gene DOID:9003713 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis ISO RGD:735847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corticobasal syndrome PMID:25741868 11875352 ADAM10 ADAM metallopeptidase domain 10 gene DOID:9008939 Breast Neoplasms ISO RGD:735847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16583263 11875352 ADAM10 ADAM metallopeptidase domain 10 gene DOID:9256 colorectal cancer ISO RGD:735847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11875352 ADAM10 ADAM metallopeptidase domain 10 gene DOID:9256 colorectal cancer severity ISO RGD:735847 D RGD:9068941 20220728 RGD PMID:31565100|REF_RGD_ID:153298908 11875376 NKAIN2 sodium/potassium transporting ATPase interacting 2 gene DOID:630 genetic disease ISO RGD:1349938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11875391 TMEM95 transmembrane protein 95 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1603857 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11875391 TMEM95 transmembrane protein 95 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1603857 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11875391 TMEM95 transmembrane protein 95 gene DOID:1059 intellectual disability ISO RGD:1603857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11875391 TMEM95 transmembrane protein 95 gene DOID:12177 common variable immunodeficiency ISO RGD:1603857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11875391 TMEM95 transmembrane protein 95 gene DOID:2729 dyskeratosis congenita ISO RGD:1603857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11875391 TMEM95 transmembrane protein 95 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1603857 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11875391 TMEM95 transmembrane protein 95 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1603857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 11875391 TMEM95 transmembrane protein 95 gene DOID:630 genetic disease ISO RGD:1603857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11875400 AGXT2 alanine--glyoxylate aminotransferase 2 gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:1352542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:28492532 11875400 AGXT2 alanine--glyoxylate aminotransferase 2 gene DOID:630 genetic disease ISO RGD:1352542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11875400 AGXT2 alanine--glyoxylate aminotransferase 2 gene DOID:655 inherited metabolic disorder ISO RGD:1352542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21572414 11875400 AGXT2 alanine--glyoxylate aminotransferase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11875400 AGXT2 alanine--glyoxylate aminotransferase 2 gene DOID:9008474 Beta-Aminoisobutyric Acid, Urinary Excretion of ISO RGD:1352542 D RGD:7240710 20200304 OMIM 11875400 AGXT2 alanine--glyoxylate aminotransferase 2 gene DOID:9008474 Beta-Aminoisobutyric Acid, Urinary Excretion of ISO RGD:1352542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-aminoisobutyric acid, urinary excretion of PMID:21572414 11875424 PEX14 peroxisomal biogenesis factor 14 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:68470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11875424 PEX14 peroxisomal biogenesis factor 14 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:68470 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11875424 PEX14 peroxisomal biogenesis factor 14 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:68470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15146459|PMID:18285423|PMID:20647552 11875424 PEX14 peroxisomal biogenesis factor 14 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:68470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) 11875424 PEX14 peroxisomal biogenesis factor 14 gene DOID:0080487 peroxisome biogenesis disorder 13A ISO RGD:68470 D RGD:7240710 20180425 OMIM 11875424 PEX14 peroxisomal biogenesis factor 14 gene DOID:0080487 peroxisome biogenesis disorder 13A ISO RGD:68470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 13A (Zellweger) PMID:15146459|PMID:18285423|PMID:25741868|PMID:28492532 11875424 PEX14 peroxisomal biogenesis factor 14 gene DOID:0111936 immunodeficiency 14 ISO RGD:68470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 11875424 PEX14 peroxisomal biogenesis factor 14 gene DOID:5119 ovarian cyst ISO RGD:68470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 11875424 PEX14 peroxisomal biogenesis factor 14 gene DOID:630 genetic disease ISO RGD:68470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11875424 PEX14 peroxisomal biogenesis factor 14 gene DOID:9006158 Peroxisome Biogenesis Disorder, Complementation Group K ISO RGD:68470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K PMID:15146459|PMID:16199547|PMID:17576681|PMID:18285423|PMID:25640679|PMID:25741868|PMID:26627464|PMID:28492532|PMID:33547378|PMID:9536098 11875424 PEX14 peroxisomal biogenesis factor 14 gene DOID:905 Zellweger syndrome ISO RGD:68470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15146459|PMID:18285423 11875447 HERPUD1 homocysteine inducible ER protein with ubiquitin like domain 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733943 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11875447 HERPUD1 homocysteine inducible ER protein with ubiquitin like domain 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733943 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11875447 HERPUD1 homocysteine inducible ER protein with ubiquitin like domain 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:733943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11875447 HERPUD1 homocysteine inducible ER protein with ubiquitin like domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11875447 HERPUD1 homocysteine inducible ER protein with ubiquitin like domain 1 gene DOID:630 genetic disease ISO RGD:733943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11875447 HERPUD1 homocysteine inducible ER protein with ubiquitin like domain 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733943 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11875464 TAPBPL TAP binding protein like gene DOID:0050772 spastic ataxia 1 ISO RGD:1317352 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spastic ataxia 1 PMID:11774073|PMID:22958904|PMID:25741868|PMID:26467025|PMID:28168212|PMID:28492532 11875464 TAPBPL TAP binding protein like gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1317352 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11875464 TAPBPL TAP binding protein like gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1317352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11875464 TAPBPL TAP binding protein like gene DOID:0111621 Temtamy syndrome ISO RGD:1317352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11875464 TAPBPL TAP binding protein like gene DOID:3635 congenital myasthenic syndrome ISO RGD:1317352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:28253535 11875464 TAPBPL TAP binding protein like gene DOID:607 paraplegia ISO RGD:1317352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:11774073|PMID:17576681|PMID:22958904|PMID:25741868|PMID:26467025|PMID:28168212|PMID:28253535|PMID:28492532|PMID:30293248|PMID:33631708|PMID:9536098 11875464 TAPBPL TAP binding protein like gene DOID:630 genetic disease ISO RGD:1317352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11875464 TAPBPL TAP binding protein like gene DOID:9004718 Congenital Myasthenic Syndrome 25 ISO RGD:1317352 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 25, presynaptic PMID:25741868|PMID:26467025|PMID:28168212|PMID:28253535|PMID:28492532|PMID:28600779 11875464 TAPBPL TAP binding protein like gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1317352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11875464 TAPBPL TAP binding protein like gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1317352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11875481 KCNS1 potassium voltage-gated channel modifier subfamily S member 1 gene DOID:2234 focal epilepsy ISO RGD:735720 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11875481 KCNS1 potassium voltage-gated channel modifier subfamily S member 1 gene DOID:630 genetic disease ISO RGD:735720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11875481 KCNS1 potassium voltage-gated channel modifier subfamily S member 1 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:735720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11875496 C19H19orf18 chromosome 19 C19orf18 homolog gene DOID:303 substance-related disorder ISO RGD:1342903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11875506 RIMS1 regulating synaptic membrane exocytosis 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:731818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant PMID:28492532 11875506 RIMS1 regulating synaptic membrane exocytosis 1 gene DOID:0060041 autism spectrum disorder ISO RGD:731818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11875506 RIMS1 regulating synaptic membrane exocytosis 1 gene DOID:0111012 cone-rod dystrophy 7 ISO RGD:731818 D RGD:7240710 20180130 OMIM 11875506 RIMS1 regulating synaptic membrane exocytosis 1 gene DOID:0111012 cone-rod dystrophy 7 ISO RGD:731818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 7 PMID:12659814|PMID:18690027|PMID:23591405|PMID:25741868|PMID:27176872|PMID:28191889|PMID:28492532|PMID:9634506 11875506 RIMS1 regulating synaptic membrane exocytosis 1 gene DOID:10584 retinitis pigmentosa ISO RGD:731818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 11875506 RIMS1 regulating synaptic membrane exocytosis 1 gene DOID:12849 autistic disorder ISO RGD:731818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25961944 11875506 RIMS1 regulating synaptic membrane exocytosis 1 gene DOID:1415 gyrate atrophy ISO RGD:731818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine aminotransferase deficiency PMID:25741868 11875506 RIMS1 regulating synaptic membrane exocytosis 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:731818 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:28492532 11875506 RIMS1 regulating synaptic membrane exocytosis 1 gene DOID:2843 long QT syndrome ISO RGD:731818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11875506 RIMS1 regulating synaptic membrane exocytosis 1 gene DOID:3312 bipolar disorder ISO RGD:731818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 11875506 RIMS1 regulating synaptic membrane exocytosis 1 gene DOID:3659 sialuria ISO RGD:731818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 11875506 RIMS1 regulating synaptic membrane exocytosis 1 gene DOID:630 genetic disease ISO RGD:731818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11875506 RIMS1 regulating synaptic membrane exocytosis 1 gene DOID:8501 fundus dystrophy ISO RGD:731818 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12659814|PMID:18690027|PMID:25741868|PMID:27176872|PMID:28492532|PMID:9634506 11875506 RIMS1 regulating synaptic membrane exocytosis 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 11875589 MZB1 marginal zone B and B1 cell specific protein gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1605681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11875589 MZB1 marginal zone B and B1 cell specific protein gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605681 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11875589 MZB1 marginal zone B and B1 cell specific protein gene DOID:0080600 COVID-19 ISO RGD:1605681 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11875589 MZB1 marginal zone B and B1 cell specific protein gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1605681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 11875589 MZB1 marginal zone B and B1 cell specific protein gene DOID:630 genetic disease ISO RGD:1605681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11875589 MZB1 marginal zone B and B1 cell specific protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11875589 MZB1 marginal zone B and B1 cell specific protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605681 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11875599 XIRP2 xin actin binding repeat containing 2 gene DOID:10348 blepharophimosis ISO RGD:1347436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis 11875599 XIRP2 xin actin binding repeat containing 2 gene DOID:630 genetic disease ISO RGD:1347436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11875615 ADGRA3 adhesion G protein-coupled receptor A3 gene DOID:10584 retinitis pigmentosa ISO RGD:1312627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:23105016|PMID:26355662|PMID:28492532|PMID:30718709 11875615 ADGRA3 adhesion G protein-coupled receptor A3 gene DOID:630 genetic disease ISO RGD:1312627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11875615 ADGRA3 adhesion G protein-coupled receptor A3 gene DOID:8501 fundus dystrophy ISO RGD:1312627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532|PMID:28714225 11875638 MRGPRG MAS related GPR family member G gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11875638 MRGPRG MAS related GPR family member G gene DOID:0080773 delta beta-thalassemia ISO RGD:1351155 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11875638 MRGPRG MAS related GPR family member G gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11875638 MRGPRG MAS related GPR family member G gene DOID:630 genetic disease ISO RGD:1351155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11875641 RNMT RNA guanine-7 methyltransferase gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1319473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11875641 RNMT RNA guanine-7 methyltransferase gene DOID:1059 intellectual disability ISO RGD:1319473 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11875641 RNMT RNA guanine-7 methyltransferase gene DOID:630 genetic disease ISO RGD:1319473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11875662 MEOX2 mesenchyme homeobox 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11875662 MEOX2 mesenchyme homeobox 2 gene DOID:5844 myocardial infarction ISO RGD:3079 D RGD:9068941 20230128 RGD protein:decreased expression:heart (rat) PMID:24155330|REF_RGD_ID:155882536 11875662 MEOX2 mesenchyme homeobox 2 gene DOID:630 genetic disease ISO RGD:733480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11875662 MEOX2 mesenchyme homeobox 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11875662 MEOX2 mesenchyme homeobox 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:733480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11875669 GLRX glutaredoxin gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736383 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11875669 GLRX glutaredoxin gene DOID:0080600 COVID-19 ISO RGD:736383 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11875669 GLRX glutaredoxin gene DOID:224 transient cerebral ischemia ISO RGD:70951 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:brain: PMID:10329397|REF_RGD_ID:9686043 11875669 GLRX glutaredoxin gene DOID:630 genetic disease ISO RGD:736383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11875669 GLRX glutaredoxin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11875669 GLRX glutaredoxin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70951 D RGD:9068941 20200609 RGD protein:increase activity:retina: PMID:17324929|REF_RGD_ID:9686046 11875669 GLRX glutaredoxin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736383 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11875669 GLRX glutaredoxin gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:70951 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart: PMID:18163565|REF_RGD_ID:2306160 11875669 GLRX glutaredoxin gene DOID:9970 obesity ISO RGD:70951 D RGD:9068941 20200609 RGD protein:increased expression:renal visceral adipose: PMID:23404913|REF_RGD_ID:9686064 11875676 PHF20L1 PHD finger protein 20 like 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1606010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:28492532 11875676 PHF20L1 PHD finger protein 20 like 1 gene DOID:14264 benign neonatal seizures ISO RGD:1606010 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:28492532|PMID:29383681|PMID:29852413 11875676 PHF20L1 PHD finger protein 20 like 1 gene DOID:630 genetic disease ISO RGD:1606010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11875722 CRYZL1 crystallin zeta like 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1320993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11875722 CRYZL1 crystallin zeta like 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1320993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 11875722 CRYZL1 crystallin zeta like 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1320993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11875722 CRYZL1 crystallin zeta like 1 gene DOID:630 genetic disease ISO RGD:1320993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11875722 CRYZL1 crystallin zeta like 1 gene DOID:9005698 ZTTK Syndrome ISO RGD:1320993 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 11875745 SHLD1 shieldin complex subunit 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1606148 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11875745 SHLD1 shieldin complex subunit 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1606148 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11875770 ACTRT3 actin related protein T3 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1607001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 11875770 ACTRT3 actin related protein T3 gene DOID:1062 Fanconi syndrome ISO RGD:1607001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 11875770 ACTRT3 actin related protein T3 gene DOID:630 genetic disease ISO RGD:1607001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11875776 CABS1 calcium binding protein, spermatid associated 1 gene DOID:630 genetic disease ISO RGD:1604567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11875776 CABS1 calcium binding protein, spermatid associated 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1604567 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11875776 CABS1 calcium binding protein, spermatid associated 1 gene DOID:9005372 Inflammation treatment ISO RGD:1604567 D RGD:9068941 20200609 RGD PMID:25632019|REF_RGD_ID:14400306 11875776 CABS1 calcium binding protein, spermatid associated 1 gene DOID:9007278 Anaphylaxis treatment ISO RGD:1604567 D RGD:9068941 20200609 RGD PMID:25632019|REF_RGD_ID:14400306 11875782 CALHM3 calcium homeostasis modulator 3 gene DOID:630 genetic disease ISO RGD:1347189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11875789 DROSHA drosha ribonuclease III gene DOID:10485 esophageal atresia ISO RGD:1605687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 11875789 DROSHA drosha ribonuclease III gene DOID:12336 male infertility ISO RGD:1605687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22381205 11875789 DROSHA drosha ribonuclease III gene DOID:2154 nephroblastoma ISO RGD:1605687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 11875789 DROSHA drosha ribonuclease III gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11875789 DROSHA drosha ribonuclease III gene DOID:630 genetic disease ISO RGD:1605687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11875789 DROSHA drosha ribonuclease III gene DOID:687 hepatoblastoma ISO RGD:1605687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 11875789 DROSHA drosha ribonuclease III gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:0050865 tongue squamous cell carcinoma severity ISO RGD:732538 D RGD:9068941 20210423 RGD PMID:19691460|REF_RGD_ID:126781771 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:732538 D RGD:9068941 20210423 RGD PMID:14595263|REF_RGD_ID:126781770 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:0060074 ductal carcinoma in situ disease_progression ISO RGD:732538 D RGD:9068941 20200609 RGD PMID:15788662|REF_RGD_ID:2289981 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:732538 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 PMID:25741868|PMID:28492532 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:0060210 amyotrophic lateral sclerosis type 19 ISO RGD:732538 D RGD:7240710 20180130 OMIM 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:0060210 amyotrophic lateral sclerosis type 19 ISO RGD:732538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 19 PMID:24119685|PMID:25741868|PMID:28492532|PMID:32579787 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:0060224 atrial fibrillation ISO RGD:732538 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:0111078 tibial muscular dystrophy ISO RGD:732538 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:25741868|PMID:28492532 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:10283 prostate cancer ISO RGD:732538 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:17922460|REF_RGD_ID:2289978 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732538 D RGD:9068941 20200609 RGD PMID:16685269|REF_RGD_ID:2298502 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732538 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:18006009|REF_RGD_ID:2289943 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:11832 visual epilepsy ISO RGD:1551357 D RGD:9068941 20200609 RGD PMID:22158510|REF_RGD_ID:10449024 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:11832 visual epilepsy ISO RGD:620486 D RGD:9068941 20200609 RGD protein:increased phosphorylation:hippocampus PMID:22158510|REF_RGD_ID:10449024 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:1324 lung cancer ISO RGD:732538 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:732538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:1909 melanoma ISO RGD:732538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melanoma PMID:19718025 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:2671 transitional cell carcinoma ISO RGD:732538 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder PMID:16469638|REF_RGD_ID:2289980 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:2671 transitional cell carcinoma ISO RGD:732538 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:14614020|REF_RGD_ID:2298506 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:732538 D RGD:9068941 20210423 RGD PMID:22549618|REF_RGD_ID:126790474 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:3307 teratoma ISO RGD:732538 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532|PMID:29895397 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:732538 D RGD:9068941 20210423 RGD protein:altered localization:nucleus PMID:18000820|REF_RGD_ID:126781765 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:732538 D RGD:9068941 20210423 RGD DNA:SNPs, haplotypes: :rs1595066 and rs16845990 (human) PMID:24916311|REF_RGD_ID:126781764 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:732538 D RGD:9068941 20210423 RGD PMID:26824984|REF_RGD_ID:126790475 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:4306 radiculopathy ISO RGD:620486 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:17401154|REF_RGD_ID:2289993 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:4362 cervical cancer ISO RGD:732538 D RGD:9068941 20210423 RGD protein:increased expression: uterine cervix, cytoplasm PMID:28042953|REF_RGD_ID:126790468 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:4450 renal cell carcinoma ISO RGD:732538 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:15360049|REF_RGD_ID:2289987 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:5419 schizophrenia ISO RGD:732538 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:5517 stomach carcinoma disease_progression ISO RGD:732538 D RGD:9068941 20210423 RGD PMID:21709195|REF_RGD_ID:126781768 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:5520 head and neck squamous cell carcinoma severity ISO RGD:732538 D RGD:9068941 20210423 RGD PMID:20604875|REF_RGD_ID:126790467 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:571 median neuropathy ISO RGD:620486 D RGD:9068941 20210423 RGD PMID:18845940|PMID:19296522|REF_RGD_ID:10449020|REF_RGD_ID:126790486 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:574 peripheral nervous system disease ISO RGD:1551357 D RGD:9068941 20200609 RGD PMID:14555954|REF_RGD_ID:734941 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:6000 congestive heart failure ISO RGD:620486 D RGD:9068941 20200609 RGD associated with Aortic Valve Stenosis;mRNA, protein:decreased expression:heart myocardium PMID:10421602|REF_RGD_ID:1580989 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:630 genetic disease ISO RGD:732538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:684 hepatocellular carcinoma ISO RGD:732538 D RGD:9068941 20210423 RGD DNA:insertion/deletion:3'UTR:rs6147150 (human) PMID:22294845|REF_RGD_ID:126781763 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:732538 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24997986 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9000081 Lymphatic Metastasis ISO RGD:732538 D RGD:9068941 20210423 RGD associated with oral squamous cell carcinoma PMID:27444519|REF_RGD_ID:126781762 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:732538 D RGD:9068941 20210423 RGD associated with lung non-small cell carcinoma PMID:21324275|REF_RGD_ID:126790471 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9000081 Lymphatic Metastasis severity ISO RGD:732538 D RGD:9068941 20210423 RGD associated with colorectal adenocarcinoma PMID:16507107|REF_RGD_ID:126781766 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:732538 D RGD:9068941 20220421 RGD PMID:28756200|REF_RGD_ID:151893490 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:732538 D RGD:9068941 20210423 RGD associated with lung adenocarcinoma PMID:26254096|REF_RGD_ID:126790470 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9002514 Neointima ISO RGD:620486 D RGD:9068941 20200609 RGD PMID:17438359|REF_RGD_ID:2289992 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9002762 Ovarian Neoplasms ISO RGD:732538 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ovary PMID:18575766|REF_RGD_ID:2298499 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:732538 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17465227|REF_RGD_ID:2289947 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9004240 Phyllodes Tumor disease_progression ISO RGD:732538 D RGD:9068941 20200609 RGD PMID:11206334|REF_RGD_ID:2289951 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:732538 D RGD:9068941 20200609 RGD PMID:16962163|REF_RGD_ID:2289950 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9004464 Skin Neoplasms ISO RGD:732538 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19718025 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732538 D RGD:9068941 20200609 RGD PMID:17203220|REF_RGD_ID:2289979 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:620486 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expresssion:left ventricle myocardium PMID:22285193|REF_RGD_ID:10449013 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9007096 Stroke ISO RGD:620486 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:15694257|REF_RGD_ID:2289956 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9007715 Endometrial Neoplasms ISO RGD:732538 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:10537356|REF_RGD_ID:2298505 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:732538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9008939 Breast Neoplasms ISO RGD:732538 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:17465220|REF_RGD_ID:2289949 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:732538 D RGD:9068941 20200609 RGD DNA:amplification PMID:18182100|REF_RGD_ID:2289942 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:732538 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-782G>T (human) PMID:18094435|REF_RGD_ID:2289977 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9255 frontotemporal dementia ISO RGD:732538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:28492532 11875827 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9256 colorectal cancer susceptibility ISO RGD:732538 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-782G>T (human) PMID:18094435|REF_RGD_ID:2289977 11875932 POM121L12 POM121 transmembrane nucleoporin like 12 gene DOID:12849 autistic disorder ISO RGD:1601803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11875932 POM121L12 POM121 transmembrane nucleoporin like 12 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11875932 POM121L12 POM121 transmembrane nucleoporin like 12 gene DOID:630 genetic disease ISO RGD:1601803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11875937 CIMAP3 ciliary microtubule associated protein 3 gene DOID:12849 autistic disorder ISO RGD:1604536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11875937 CIMAP3 ciliary microtubule associated protein 3 gene DOID:630 genetic disease ISO RGD:1604536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11875953 ARF6 ADP ribosylation factor 6 gene DOID:630 genetic disease ISO RGD:734181 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11875953 ARF6 ADP ribosylation factor 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:734181 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11875963 EEA1 early endosome antigen 1 gene DOID:630 genetic disease ISO RGD:1320911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876012 PA2G4 proliferation-associated 2G4 gene DOID:630 genetic disease ISO RGD:1354307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876012 PA2G4 proliferation-associated 2G4 gene DOID:9000217 Stomach Neoplasms ISO RGD:1354307 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11876012 PA2G4 proliferation-associated 2G4 gene DOID:9000918 Disease Progression ISO RGD:1354307 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11876036 METTL25B methyltransferase like 25B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1603041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11876036 METTL25B methyltransferase like 25B gene DOID:0111940 immunodeficiency 42 ISO RGD:1603041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11876036 METTL25B methyltransferase like 25B gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11876036 METTL25B methyltransferase like 25B gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11876036 METTL25B methyltransferase like 25B gene DOID:1540 parathyroid carcinoma ISO RGD:1603041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11876036 METTL25B methyltransferase like 25B gene DOID:5812 MHC class II deficiency ISO RGD:1603041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11876036 METTL25B methyltransferase like 25B gene DOID:630 genetic disease ISO RGD:1603041 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876036 METTL25B methyltransferase like 25B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11876062 GPATCH3 G-patch domain containing 3 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1347677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 11876062 GPATCH3 G-patch domain containing 3 gene DOID:630 genetic disease ISO RGD:1347677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876073 TTPA alpha tocopherol transfer protein gene DOID:0090028 familial isolated deficiency of vitamin E ISO RGD:731914 D RGD:7240710 20180130 OMIM 11876073 TTPA alpha tocopherol transfer protein gene DOID:0090028 familial isolated deficiency of vitamin E ISO RGD:731914 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial isolated deficiency of vitamin E PMID:10360777|PMID:10896705|PMID:11013295|PMID:11916749|PMID:12039660|PMID:12112220|PMID:12470185|PMID:12899840|PMID:12907280|PMID:14657365|PMID:15065857|PMID:15300460|PMID:15953402|PMID:16199547|PMID:16819822|PMID:17049453|PMID:17576681|PMID:18414213|PMID:18458085|PMID:19566498|PMID:20301419|PMID:21110980|PMID:21228398|PMID:22479462|PMID:22696689|PMID:23077608|PMID:23445347|PMID:23599266|PMID:23713716|PMID:24033266|PMID:24369383|PMID:25262571|PMID:25614784|PMID:25741868|PMID:26068213|PMID:26467025|PMID:27274910|PMID:27307040|PMID:28492532|PMID:30902645|PMID:31429931|PMID:31970222|PMID:34426522|PMID:34563650|PMID:34759169|PMID:3477125|PMID:3837850|PMID:7566022|PMID:7719340|PMID:8602747|PMID:8965888|PMID:9270601|PMID:9463307|PMID:9536098|PMID:9588854|PMID:9931538 11876073 TTPA alpha tocopherol transfer protein gene DOID:10584 retinitis pigmentosa ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10896705 11876073 TTPA alpha tocopherol transfer protein gene DOID:1936 atherosclerosis ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11095717 11876073 TTPA alpha tocopherol transfer protein gene DOID:5679 retinal disease ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11752462 11876073 TTPA alpha tocopherol transfer protein gene DOID:630 genetic disease ISO RGD:731914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 11876073 TTPA alpha tocopherol transfer protein gene DOID:767 muscular atrophy ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10896705 11876073 TTPA alpha tocopherol transfer protein gene DOID:863 nervous system disease ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11752462 11876073 TTPA alpha tocopherol transfer protein gene DOID:9000343 Vision Disorders ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10896705 11876073 TTPA alpha tocopherol transfer protein gene DOID:9002500 Hearing Disorders ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10896705 11876073 TTPA alpha tocopherol transfer protein gene DOID:9003919 Urination Disorders ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10896705 11876073 TTPA alpha tocopherol transfer protein gene DOID:9004866 Ataxia susceptibility ISO RGD:731914 D RGD:9068941 20200609 RGD DNA:frameshift mutations: ; associated with Vitamin E Deficiency PMID:7719340|REF_RGD_ID:1600430 11876073 TTPA alpha tocopherol transfer protein gene DOID:9005219 Abnormal Reflexes ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10896705 11876073 TTPA alpha tocopherol transfer protein gene DOID:9006205 Animal Disease Models ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11095717|PMID:11752462 11876073 TTPA alpha tocopherol transfer protein gene DOID:9006575 Vitamin E Deficiency ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11095717 11876073 TTPA alpha tocopherol transfer protein gene DOID:9007480 Hyperoxia ISO RGD:3915 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:12448818|REF_RGD_ID:1600432 11876073 TTPA alpha tocopherol transfer protein gene DOID:9008625 Somatosensory Disorders ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10896705 11876073 TTPA alpha tocopherol transfer protein gene DOID:916 liver benign neoplasm ISO RGD:3915 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:9178827|REF_RGD_ID:1600436 11876073 TTPA alpha tocopherol transfer protein gene DOID:92 speech disorder ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10896705 11876082 IL21R interleukin 21 receptor gene DOID:0050589 inflammatory bowel disease ISO RGD:1312687 D RGD:9068941 20200609 RGD protein:increased expression:gut mucosa,leukocytes, mononuclear PMID:19322899|REF_RGD_ID:6892935 11876082 IL21R interleukin 21 receptor gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1312687 D RGD:9068941 20200609 RGD diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region PMID:11821949|REF_RGD_ID:1600111 11876082 IL21R interleukin 21 receptor gene DOID:0081267 graft-versus-host disease ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:21596854|REF_RGD_ID:6892927 11876082 IL21R interleukin 21 receptor gene DOID:0111946 immunodeficiency 31C ISO RGD:1312687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31C PMID:25741868 11876082 IL21R interleukin 21 receptor gene DOID:0111982 immunodeficiency 56 ISO RGD:1312687 D RGD:7240710 20180130 OMIM 11876082 IL21R interleukin 21 receptor gene DOID:0111982 immunodeficiency 56 ISO RGD:1312687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: IL21R immunodeficiency PMID:16199547|PMID:17576681|PMID:22235133|PMID:23440042|PMID:24033266|PMID:25398835|PMID:25741868|PMID:26193622|PMID:28492532|PMID:33929673|PMID:9536098 11876082 IL21R interleukin 21 receptor gene DOID:12155 lymphocytic choriomeningitis ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:19478140|REF_RGD_ID:6892934 11876082 IL21R interleukin 21 receptor gene DOID:12177 common variable immunodeficiency ISO RGD:1312687 D RGD:9068941 20200609 RGD DNA:SNPs:exons: PMID:18254984|REF_RGD_ID:6892941 11876082 IL21R interleukin 21 receptor gene DOID:13141 uveitis ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:21593413|REF_RGD_ID:6892928 11876082 IL21R interleukin 21 receptor gene DOID:13141 uveitis ISO RGD:1312688 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lymph node, spleen PMID:20057909|REF_RGD_ID:6892932 11876082 IL21R interleukin 21 receptor gene DOID:13241 Behcet's disease ISO RGD:1312687 D RGD:9068941 20200609 RGD PMID:21724243|REF_RGD_ID:6892926 11876082 IL21R interleukin 21 receptor gene DOID:13375 temporal arteritis ISO RGD:1312687 D RGD:9068941 20200609 RGD PMID:22147555|REF_RGD_ID:6892962 11876082 IL21R interleukin 21 receptor gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1312687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 11876082 IL21R interleukin 21 receptor gene DOID:2377 multiple sclerosis ISO RGD:1312687 D RGD:9068941 20200609 RGD PMID:21281812|REF_RGD_ID:6892963 11876082 IL21R interleukin 21 receptor gene DOID:2377 multiple sclerosis ISO RGD:1312687 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:20072140|REF_RGD_ID:6892695 11876082 IL21R interleukin 21 receptor gene DOID:3310 atopic dermatitis ISO RGD:1312687 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:19075398|REF_RGD_ID:6892938 11876082 IL21R interleukin 21 receptor gene DOID:3310 atopic dermatitis ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:19075398|REF_RGD_ID:6892938 11876082 IL21R interleukin 21 receptor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1312687 D RGD:9068941 20200609 RGD PMID:22530560|REF_RGD_ID:6892924 11876082 IL21R interleukin 21 receptor gene DOID:630 genetic disease ISO RGD:1312687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22235133|PMID:25741868|PMID:28492532 11876082 IL21R interleukin 21 receptor gene DOID:707 B-cell lymphoma ISO RGD:1312687 D RGD:9068941 20200609 RGD diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region PMID:11821949|REF_RGD_ID:1600111 11876082 IL21R interleukin 21 receptor gene DOID:7148 rheumatoid arthritis ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:19342640|REF_RGD_ID:6892964 11876082 IL21R interleukin 21 receptor gene DOID:820 myocarditis no_association ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:18546146|REF_RGD_ID:6892939 11876082 IL21R interleukin 21 receptor gene DOID:8778 Crohn's disease ISO RGD:1312687 D RGD:9068941 20200609 RGD DNA:altered methylation: : PMID:22021194|REF_RGD_ID:6482789 11876082 IL21R interleukin 21 receptor gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:17920666|REF_RGD_ID:6892942 11876082 IL21R interleukin 21 receptor gene DOID:9001953 Pneumovirus Infections ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:22238461|REF_RGD_ID:6892925 11876082 IL21R interleukin 21 receptor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis disease_progression ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:18353312|REF_RGD_ID:6892940 11876082 IL21R interleukin 21 receptor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis no_association ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:18546146|REF_RGD_ID:6892939 11876082 IL21R interleukin 21 receptor gene DOID:9008727 Ige Responsiveness, Atopic ISO RGD:1312687 D RGD:7240710 20180130 OMIM 11876082 IL21R interleukin 21 receptor gene DOID:9008727 Ige Responsiveness, Atopic ISO RGD:1312687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: IgE responsiveness, atopic | ClinVar Annotator: match by term: Ige, elevated level of PMID:12700598|PMID:25741868|PMID:28492532 11876082 IL21R interleukin 21 receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:1312687 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17911475 11876082 IL21R interleukin 21 receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:1312687 D RGD:9068941 20200609 RGD DNA:polymorphism: : rs3093301 (human) PMID:19644854|REF_RGD_ID:6892933 11876082 IL21R interleukin 21 receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:19164519|PMID:20424514|REF_RGD_ID:6892931|REF_RGD_ID:6892937 11876082 IL21R interleukin 21 receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:19208913|REF_RGD_ID:6892930 11876119 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:0060163 body dysmorphic disorder ISO RGD:1606030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:25741868 11876119 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11876119 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1606030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 11876119 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1606030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 11876119 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:0112025 female-restricted syndromic X-linked intellectual disability 99 ISO RGD:1606030 D RGD:7240710 20190315 OMIM 11876119 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:0112025 female-restricted syndromic X-linked intellectual disability 99 ISO RGD:1606030 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED | ClinVar Annotator: match by term: Intellectual disability, X-linked 99, syndromic, female-restricted PMID:25741868|PMID:26833328|PMID:28492532|PMID:34008892 11876119 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:0112026 non-syndromic X-linked intellectual disability 99 ISO RGD:1606030 D RGD:7240710 20180130 OMIM 11876119 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:0112026 non-syndromic X-linked intellectual disability 99 ISO RGD:1606030 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 | ClinVar Annotator: match by term: USP9X related disorders PMID:19377476|PMID:24607389|PMID:25741868|PMID:26833328|PMID:28492532|PMID:31443933|PMID:33298948 11876119 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:0112048 non-syndromic X-linked intellectual disability 101 ISO RGD:1606030 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked 101 PMID:25741868 11876119 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:1059 intellectual disability ISO RGD:1606030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11876119 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:12849 autistic disorder ISO RGD:1606030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11876119 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:1826 epilepsy ISO RGD:1606030 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11876119 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:630 genetic disease ISO RGD:1606030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24607389|PMID:24690944|PMID:25741868|PMID:25763846|PMID:26833328|PMID:28492532|PMID:28688840|PMID:31443933 11876119 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11876119 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:9008086 Developmental Disabilities ISO RGD:1606030 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:36937954 11876119 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:9008582 Developmental Disease ISO RGD:1606030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11876119 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1606030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 11876179 LGR6 leucine rich repeat containing G protein-coupled receptor 6 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1353750 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:32215045 11876179 LGR6 leucine rich repeat containing G protein-coupled receptor 6 gene DOID:0080600 COVID-19 ISO RGD:1353750 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11876179 LGR6 leucine rich repeat containing G protein-coupled receptor 6 gene DOID:0111081 Fanconi anemia complementation group T ISO RGD:1353750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group T PMID:26046368 11876179 LGR6 leucine rich repeat containing G protein-coupled receptor 6 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1353750 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11876179 LGR6 leucine rich repeat containing G protein-coupled receptor 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1353750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11876179 LGR6 leucine rich repeat containing G protein-coupled receptor 6 gene DOID:1749 squamous cell carcinoma ISO RGD:1353750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28945253 11876179 LGR6 leucine rich repeat containing G protein-coupled receptor 6 gene DOID:630 genetic disease ISO RGD:1353750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876179 LGR6 leucine rich repeat containing G protein-coupled receptor 6 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1353750 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11876179 LGR6 leucine rich repeat containing G protein-coupled receptor 6 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1353750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 11876179 LGR6 leucine rich repeat containing G protein-coupled receptor 6 gene DOID:9008939 Breast Neoplasms ISO RGD:1353750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:23535733 11876179 LGR6 leucine rich repeat containing G protein-coupled receptor 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11876201 SLFN13 schlafen family member 13 gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:1603573 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 11876201 SLFN13 schlafen family member 13 gene DOID:630 genetic disease ISO RGD:1603573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876211 SPATA1 spermatogenesis associated 1 gene DOID:630 genetic disease ISO RGD:1353083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876235 GOLT1B golgi transport 1B gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:1349948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:28492532 11876235 GOLT1B golgi transport 1B gene DOID:630 genetic disease ISO RGD:1349948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876244 RBBP4 RB binding protein 4, chromatin remodeling factor gene DOID:630 genetic disease ISO RGD:1323349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876260 ASTL astacin like metalloendopeptidase gene DOID:1059 intellectual disability ISO RGD:1349169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11876260 ASTL astacin like metalloendopeptidase gene DOID:5419 schizophrenia ISO RGD:1349169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11876260 ASTL astacin like metalloendopeptidase gene DOID:630 genetic disease ISO RGD:1349169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876260 ASTL astacin like metalloendopeptidase gene DOID:9004838 Oocyte/Zygote/Embryo Maturation Arrest 11 ISO RGD:1349169 D RGD:7240710 20211222 OMIM 11876260 ASTL astacin like metalloendopeptidase gene DOID:9004838 Oocyte/Zygote/Embryo Maturation Arrest 11 ISO RGD:1349169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 11 PMID:34704130 11876272 SNX16 sorting nexin 16 gene DOID:630 genetic disease ISO RGD:733907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876290 RABGAP1L RAB GTPase activating protein 1 like gene DOID:1540 parathyroid carcinoma ISO RGD:1347519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11876290 RABGAP1L RAB GTPase activating protein 1 like gene DOID:3755 antithrombin III deficiency ISO RGD:1347519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 11876290 RABGAP1L RAB GTPase activating protein 1 like gene DOID:630 genetic disease ISO RGD:1347519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876290 RABGAP1L RAB GTPase activating protein 1 like gene DOID:869 cholesteatoma ISO RGD:1347519 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cholesteatoma 11876290 RABGAP1L RAB GTPase activating protein 1 like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11876290 RABGAP1L RAB GTPase activating protein 1 like gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1347519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 11876290 RABGAP1L RAB GTPase activating protein 1 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11876349 ZNF283 zinc finger protein 283 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1354182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 11876349 ZNF283 zinc finger protein 283 gene DOID:5419 schizophrenia ISO RGD:1354182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11876349 ZNF283 zinc finger protein 283 gene DOID:630 genetic disease ISO RGD:1354182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876372 DCDC1 doublecortin domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1351849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11876372 DCDC1 doublecortin domain containing 1 gene DOID:11934 head and neck cancer ISO RGD:1351849 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Head and neck cancer PMID:28492532|PMID:32266149 11876372 DCDC1 doublecortin domain containing 1 gene DOID:12271 aniridia ISO RGD:1351849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 11876372 DCDC1 doublecortin domain containing 1 gene DOID:3764 Denys-Drash syndrome ISO RGD:1351849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Drash syndrome PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28492532 11876372 DCDC1 doublecortin domain containing 1 gene DOID:630 genetic disease ISO RGD:1351849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876372 DCDC1 doublecortin domain containing 1 gene DOID:9002455 Aniridia 1 ISO RGD:1351849 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aniridia 1 PMID:10737978|PMID:11284764|PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28231309|PMID:28492532 11876400 DEFB132 defensin beta 132 gene DOID:630 genetic disease ISO RGD:1605783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876400 DEFB132 defensin beta 132 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11876413 TAS2R60 taste 2 receptor member 60 gene DOID:1909 melanoma ISO RGD:1347652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 11876413 TAS2R60 taste 2 receptor member 60 gene DOID:630 genetic disease ISO RGD:1347652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876416 PNPLA1 patatin like phospholipase domain containing 1 gene DOID:0050553 JMP syndrome ISO RGD:1315443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11876416 PNPLA1 patatin like phospholipase domain containing 1 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1315443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:22246504|PMID:24344921|PMID:26691440|PMID:26778108|PMID:28093717|PMID:28369476|PMID:28403545|PMID:28492532|PMID:3757302 11876416 PNPLA1 patatin like phospholipase domain containing 1 gene DOID:0060719 autosomal recessive congenital ichthyosis 10 ISO RGD:1315443 D RGD:7240710 20180130 OMIM 11876416 PNPLA1 patatin like phospholipase domain containing 1 gene DOID:0060719 autosomal recessive congenital ichthyosis 10 ISO RGD:1315443 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10 PMID:22246504|PMID:23352160|PMID:24033266|PMID:24344921|PMID:25741868|PMID:26424960|PMID:26691440|PMID:26778108|PMID:27884173|PMID:27884779|PMID:28369476|PMID:28403545|PMID:28492532|PMID:30409984|PMID:33727708|PMID:3757302 11876416 PNPLA1 patatin like phospholipase domain containing 1 gene DOID:1697 ichthyosis ISO RGD:1315443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ichthyosis PMID:26691440|PMID:26778108 11876416 PNPLA1 patatin like phospholipase domain containing 1 gene DOID:630 genetic disease ISO RGD:1315443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11876432 CHAC1 ChaC glutathione specific gamma-glutamylcyclotransferase 1 gene DOID:10283 prostate cancer ISO RGD:1604291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11876432 CHAC1 ChaC glutathione specific gamma-glutamylcyclotransferase 1 gene DOID:2717 Bloom syndrome ISO RGD:1604291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11876432 CHAC1 ChaC glutathione specific gamma-glutamylcyclotransferase 1 gene DOID:630 genetic disease ISO RGD:1604291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876432 CHAC1 ChaC glutathione specific gamma-glutamylcyclotransferase 1 gene DOID:9256 colorectal cancer ISO RGD:1604291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11876439 LMO3 LIM domain only 3 gene DOID:630 genetic disease ISO RGD:1346701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876486 C3 complement C3 gene DOID:0060284 paroxysmal nocturnal hemoglobinuria ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased processing:erythrocyte PMID:6915939|REF_RGD_ID:11040769 11876486 C3 complement C3 gene DOID:0080162 lupus nephritis ISO RGD:735504 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:21888025|REF_RGD_ID:7175544 11876486 C3 complement C3 gene DOID:0080162 lupus nephritis ISO RGD:735504 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:31182691 11876486 C3 complement C3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:735504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome PMID:14639503|PMID:17634448|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20301541|PMID:20595690|PMID:21125405|PMID:23307876|PMID:23314101|PMID:23431077|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25188723|PMID:25608561|PMID:25741868|PMID:25951460|PMID:26283675|PMID:26613027|PMID:28492532|PMID:28596415|PMID:29566171|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30773290|PMID:32950058|PMID:33213850 11876486 C3 complement C3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:735504 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome PMID:14639503|PMID:17634448|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20203157|PMID:20301541|PMID:20595690|PMID:21125405|PMID:22246034|PMID:22669319|PMID:23307876|PMID:23314101|PMID:23431077|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25188723|PMID:25608561|PMID:25741868|PMID:25879158|PMID:25951460|PMID:26283675|PMID:26559391|PMID:26613027|PMID:28187980|PMID:28492532|PMID:28596415|PMID:29500241|PMID:29566171|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30773290|PMID:30890598|PMID:31865800|PMID:32265146|PMID:32342491|PMID:32950058|PMID:33213850 11876486 C3 complement C3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:735504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome PMID:14639503|PMID:17634448|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20203157|PMID:20301541|PMID:20595690|PMID:21125405|PMID:22246034|PMID:22669319|PMID:23307876|PMID:23314101|PMID:23431077|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25188723|PMID:25608561|PMID:25741868|PMID:25879158|PMID:25951460|PMID:26283675|PMID:26559391|PMID:26613027|PMID:28187980|PMID:28492532|PMID:28596415|PMID:28752844|PMID:29500241|PMID:29566171|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30773290|PMID:30890598|PMID:31865800|PMID:32265146|PMID:32342491|PMID:32424742|PMID:32950058|PMID:33213850|PMID:33456446|PMID:33609329|PMID:34169201 11876486 C3 complement C3 gene DOID:0080301 atypical hemolytic-uremic syndrome susceptibility ISO RGD:735504 D RGD:7240710 20230505 OMIM 11876486 C3 complement C3 gene DOID:0080490 mucolipidosis type IV ISO RGD:735504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11876486 C3 complement C3 gene DOID:0080600 COVID-19 severity ISO RGD:735504 D RGD:9068941 20200625 RGD protein:increased expression:serum (human) PMID:32434211|REF_RGD_ID:30310238 11876486 C3 complement C3 gene DOID:0080600 COVID-19 severity ISO RGD:735504 D RGD:9068941 20200813 RGD DNA:SNPs: :rs1047286,rs2230203,rs2230199(human) PMID:32747830|REF_RGD_ID:38500238 11876486 C3 complement C3 gene DOID:0080750 erythema nodosum ISO RGD:735504 D RGD:9068941 20200609 RGD associated with Leprosy PMID:2783924|REF_RGD_ID:7421527 11876486 C3 complement C3 gene DOID:0110019 age related macular degeneration 7 ISO RGD:735504 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :multiple PMID:19899988|REF_RGD_ID:7401252 11876486 C3 complement C3 gene DOID:0110021 age related macular degeneration 9 ISO RGD:735504 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 9 | ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO PMID:12462331|PMID:14639503|PMID:16687714|PMID:17576681|PMID:17634448|PMID:17767156|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19259132|PMID:19590060|PMID:1976733|PMID:20595690|PMID:20664795|PMID:21125405|PMID:21501302|PMID:21576320|PMID:22669319|PMID:22718507|PMID:23112567|PMID:23307876|PMID:23314101|PMID:23431077|PMID:23455636|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25188723|PMID:25431709|PMID:25608561|PMID:25741868|PMID:25951460|PMID:26283675|PMID:26613027|PMID:27722136|PMID:28492532|PMID:28596415|PMID:28752844|PMID:29566171|PMID:29888403|PMID:30046676|PMID:30131807|PMID:31042289|PMID:32424742|PMID:32950058|PMID:33213850|PMID:33609329|PMID:34169201|PMID:7870343|PMID:9536098 11876486 C3 complement C3 gene DOID:0110021 age related macular degeneration 9 susceptibility ISO RGD:735504 D RGD:7240710 20230505 OMIM 11876486 C3 complement C3 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:10256 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:kidney PMID:17960140|REF_RGD_ID:7175542 11876486 C3 complement C3 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:735504 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:kidney PMID:17960140|REF_RGD_ID:7175542 11876486 C3 complement C3 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:735504 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:17634448|PMID:18325906|PMID:19168221|PMID:1976733|PMID:25741868|PMID:28492532 11876486 C3 complement C3 gene DOID:10247 pleurisy ISO RGD:10256 D RGD:9068941 20200609 RGD protein:increased activity:pleural cavity PMID:18256172|REF_RGD_ID:5129520 11876486 C3 complement C3 gene DOID:10325 silicosis ISO RGD:735504 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:12096683|REF_RGD_ID:5129516 11876486 C3 complement C3 gene DOID:10591 pre-eclampsia treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:23685261|REF_RGD_ID:7411624 11876486 C3 complement C3 gene DOID:10652 Alzheimer's disease ISO RGD:735504 D RGD:9068941 20200609 RGD DNA:SNP: :rs22300199 (human) PMID:22300950|REF_RGD_ID:7401250 11876486 C3 complement C3 gene DOID:10690 mastitis ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:8746955|REF_RGD_ID:7401278 11876486 C3 complement C3 gene DOID:10754 otitis media ISO RGD:10256 D RGD:9068941 20200609 RGD associated with Pneumococcal Infections PMID:21502587|REF_RGD_ID:7401269 11876486 C3 complement C3 gene DOID:10754 otitis media ISO RGD:8719081 D RGD:9068941 20200609 RGD PMID:19139190|REF_RGD_ID:11554035 11876486 C3 complement C3 gene DOID:10763 hypertension ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:22416803|REF_RGD_ID:11040890 11876486 C3 complement C3 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:735504 D RGD:9068941 20200609 RGD DNA:SNP: :rs2241394 (human) PMID:22174912|REF_RGD_ID:7401249 11876486 C3 complement C3 gene DOID:10887 lepromatous leprosy severity ISO RGD:735504 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:6342123|REF_RGD_ID:7411735 11876486 C3 complement C3 gene DOID:10923 sickle cell anemia severity ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:3896597|REF_RGD_ID:11040777 11876486 C3 complement C3 gene DOID:10923 sickle cell anemia severity ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased processing PMID:7554454|REF_RGD_ID:11040773 11876486 C3 complement C3 gene DOID:10976 membranous glomerulonephritis ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:10729746|REF_RGD_ID:5129563 11876486 C3 complement C3 gene DOID:10976 membranous glomerulonephritis ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25954969 11876486 C3 complement C3 gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1353212 11876486 C3 complement C3 gene DOID:11339 pneumocystosis ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:17169032|REF_RGD_ID:5129525 11876486 C3 complement C3 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased activation:respiratory system fluid/secretion PMID:3826891|REF_RGD_ID:5130153 11876486 C3 complement C3 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:2784515|REF_RGD_ID:5129694 11876486 C3 complement C3 gene DOID:11446 sciatic neuropathy ISO RGD:2232 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve PMID:18052971|REF_RGD_ID:5129535 11876486 C3 complement C3 gene DOID:11555 Fuchs' endothelial dystrophy ISO RGD:735504 D RGD:9068941 20200609 RGD protein:decreased expression:aqueous humour PMID:21139973|REF_RGD_ID:7401271 11876486 C3 complement C3 gene DOID:12134 factor VIII deficiency ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:6912882|REF_RGD_ID:11041156 11876486 C3 complement C3 gene DOID:12306 vitiligo ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:12121667|REF_RGD_ID:7401277 11876486 C3 complement C3 gene DOID:12894 Sjogren's syndrome ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:17675493|REF_RGD_ID:7401265 11876486 C3 complement C3 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:735504 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:16687714|PMID:17634448|PMID:17767156|PMID:18325906|PMID:19168221|PMID:19259132|PMID:1976733|PMID:20664795|PMID:21576320|PMID:22718507|PMID:23112567|PMID:23455636|PMID:25741868|PMID:28492532|PMID:7870343 11876486 C3 complement C3 gene DOID:13406 pulmonary sarcoidosis ISO RGD:735504 D RGD:9068941 20200609 RGD protein:altered expression:lung PMID:18069416|REF_RGD_ID:5129502 11876486 C3 complement C3 gene DOID:1407 anterior uveitis ISO RGD:2232 D RGD:9068941 20200609 RGD protein:increased expression:eye anterior chamber, ciliary body, iris PMID:16751365|REF_RGD_ID:1600478 11876486 C3 complement C3 gene DOID:1407 anterior uveitis ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:6610667|REF_RGD_ID:7411736 11876486 C3 complement C3 gene DOID:14095 boutonneuse fever ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:3361150|REF_RGD_ID:11041575 11876486 C3 complement C3 gene DOID:1909 melanoma treatment ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:17146472|REF_RGD_ID:7401279 11876486 C3 complement C3 gene DOID:224 transient cerebral ischemia ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23199288 11876486 C3 complement C3 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:22004711|REF_RGD_ID:7411628 11876486 C3 complement C3 gene DOID:2316 brain ischemia ISO RGD:2232 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:14561876|REF_RGD_ID:5129543 11876486 C3 complement C3 gene DOID:2452 thrombophilia treatment ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:15986360|REF_RGD_ID:11040779 11876486 C3 complement C3 gene DOID:2841 asthma ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:11591733|REF_RGD_ID:5129517 11876486 C3 complement C3 gene DOID:2841 asthma ISO RGD:10256 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:20802484|REF_RGD_ID:5129681 11876486 C3 complement C3 gene DOID:2841 asthma ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:20402389|REF_RGD_ID:5129537 11876486 C3 complement C3 gene DOID:2841 asthma ISO RGD:735504 D RGD:9068941 20200609 RGD DNA:SNP: :4896C>T (human) PMID:15278436|REF_RGD_ID:5129512 11876486 C3 complement C3 gene DOID:2841 asthma ISO RGD:735504 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs11569562 (human) PMID:18566738|REF_RGD_ID:5129501 11876486 C3 complement C3 gene DOID:2841 asthma ISO RGD:735504 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:16355111|REF_RGD_ID:5129505 11876486 C3 complement C3 gene DOID:2841 asthma ISO RGD:735504 D RGD:9068941 20200609 RGD Interaction with IL4RA PMID:20395963|REF_RGD_ID:5129538 11876486 C3 complement C3 gene DOID:2841 asthma severity ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20589464|REF_RGD_ID:5129519 11876486 C3 complement C3 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:735504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis PMID:32581362 11876486 C3 complement C3 gene DOID:2921 glomerulonephritis ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:11950907|REF_RGD_ID:5129550 11876486 C3 complement C3 gene DOID:2957 pulmonary tuberculosis ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:19472039|REF_RGD_ID:5129500 11876486 C3 complement C3 gene DOID:2986 IgA glomerulonephritis ISO RGD:735504 D RGD:9068941 20200609 RGD mRNA,protein:increased expression, increased activity:kidney PMID:11287758|REF_RGD_ID:7175543 11876486 C3 complement C3 gene DOID:3021 acute kidney failure ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 11876486 C3 complement C3 gene DOID:3070 high grade glioma treatment ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:21678475|REF_RGD_ID:7401275 11876486 C3 complement C3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:17975205|REF_RGD_ID:5129504 11876486 C3 complement C3 gene DOID:321 tropical spastic paraparesis ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased processing:plasma PMID:7561187|REF_RGD_ID:11040775 11876486 C3 complement C3 gene DOID:3310 atopic dermatitis ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:3923750|REF_RGD_ID:7401273 11876486 C3 complement C3 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:19050293|REF_RGD_ID:5130169 11876486 C3 complement C3 gene DOID:3525 middle cerebral artery infarction ISO RGD:2232 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22103620|REF_RGD_ID:7175514 11876486 C3 complement C3 gene DOID:3525 middle cerebral artery infarction ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23199288 11876486 C3 complement C3 gene DOID:418 systemic scleroderma ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:2803327|REF_RGD_ID:7421518 11876486 C3 complement C3 gene DOID:4448 macular degeneration ISO RGD:735504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:25741868|PMID:28492532 11876486 C3 complement C3 gene DOID:4483 rhinitis ISO RGD:2232 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium PMID:17345707|REF_RGD_ID:5129524 11876486 C3 complement C3 gene DOID:4483 rhinitis ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:20109314|REF_RGD_ID:5129539 11876486 C3 complement C3 gene DOID:5162 arteriolosclerosis ISO RGD:735504 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:serum: PMID:22863782|REF_RGD_ID:7175516 11876486 C3 complement C3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:7561187|REF_RGD_ID:11040775 11876486 C3 complement C3 gene DOID:5426 primary ovarian insufficiency ISO RGD:735504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868|PMID:28492532|PMID:31042289 11876486 C3 complement C3 gene DOID:552 pneumonia ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:10886251|REF_RGD_ID:5129562 11876486 C3 complement C3 gene DOID:557 kidney disease ISO RGD:735504 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532|PMID:29888403 11876486 C3 complement C3 gene DOID:5844 myocardial infarction ISO RGD:2232 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium PMID:16996480|REF_RGD_ID:1600605 11876486 C3 complement C3 gene DOID:589 congenital hemolytic anemia ISO RGD:735504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868 11876486 C3 complement C3 gene DOID:612 primary immunodeficiency disease ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1350678 11876486 C3 complement C3 gene DOID:6195 conjunctivitis ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:tear PMID:3875643|REF_RGD_ID:7421524 11876486 C3 complement C3 gene DOID:630 genetic disease ISO RGD:735504 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16687714|PMID:17634448|PMID:17767156|PMID:18325906|PMID:19168221|PMID:19259132|PMID:1976733|PMID:20664795|PMID:21576320|PMID:22718507|PMID:23112567|PMID:23455636|PMID:25741868|PMID:28492532|PMID:7870343 11876486 C3 complement C3 gene DOID:684 hepatocellular carcinoma ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:23245919|REF_RGD_ID:11040806 11876486 C3 complement C3 gene DOID:7148 rheumatoid arthritis ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:7561187|REF_RGD_ID:11040775 11876486 C3 complement C3 gene DOID:8354 complement component 3 deficiency ISO RGD:735504 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: C3 deficiency | ClinVar Annotator: match by term: Complement component 3 deficiency | ClinVar Annotator: match by term: Complement component 3 deficiency, autosomal recessive PMID:1350678|PMID:14639503|PMID:15781264|PMID:17634448|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20595690|PMID:21125405|PMID:22669319|PMID:23307876|PMID:23314101|PMID:23431077|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25188723|PMID:25608561|PMID:25741868|PMID:25951460|PMID:26283675|PMID:26613027|PMID:28492532|PMID:28596415|PMID:28752844|PMID:29566171|PMID:29888403|PMID:30046676|PMID:30131807|PMID:32424742|PMID:32950058|PMID:33213850|PMID:33609329|PMID:4117597 11876486 C3 complement C3 gene DOID:8354 complement component 3 deficiency susceptibility ISO RGD:735504 D RGD:7240710 20230505 OMIM 11876486 C3 complement C3 gene DOID:8466 retinal degeneration ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:21467172|REF_RGD_ID:7364947 11876486 C3 complement C3 gene DOID:8466 retinal degeneration ISO RGD:2232 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:21571681|REF_RGD_ID:7401257 11876486 C3 complement C3 gene DOID:850 lung disease ISO RGD:10256 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:21421909|REF_RGD_ID:5129564 11876486 C3 complement C3 gene DOID:8566 herpes simplex ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:11509581|REF_RGD_ID:7401276 11876486 C3 complement C3 gene DOID:8577 ulcerative colitis ISO RGD:735504 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 11876486 C3 complement C3 gene DOID:874 bacterial pneumonia ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:16014897|REF_RGD_ID:5129508 11876486 C3 complement C3 gene DOID:9000326 Thrombotic Microangiopathies treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:11532096|REF_RGD_ID:5129554 11876486 C3 complement C3 gene DOID:9000363 Hematuria ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:renal arteriole: PMID:10955930|REF_RGD_ID:7183083 11876486 C3 complement C3 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:26518242|REF_RGD_ID:11040780 11876486 C3 complement C3 gene DOID:9000656 Penetrating Wounds treatment ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:22007700|REF_RGD_ID:11040781 11876486 C3 complement C3 gene DOID:9000998 Brain Injuries ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:23808389|REF_RGD_ID:10054313 11876486 C3 complement C3 gene DOID:9001488 Human Influenza ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:21408070|REF_RGD_ID:5129492 11876486 C3 complement C3 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:15972516|REF_RGD_ID:5129509 11876486 C3 complement C3 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:735504 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:20405|REF_RGD_ID:5130163 11876486 C3 complement C3 gene DOID:9002106 Pneumococcal Pneumonia disease_progression ISO RGD:2232 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis, Experimental;protein:decreased expression:respiratory system fluid/secretion PMID:17956621|REF_RGD_ID:5129523 11876486 C3 complement C3 gene DOID:9002153 Chronic Allograft Dysfunction treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:25122638|REF_RGD_ID:11040803 11876486 C3 complement C3 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:19854450|REF_RGD_ID:11040888 11876486 C3 complement C3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:10256 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1; protein:increased expression:kidney: PMID:19200691|REF_RGD_ID:7183082 11876486 C3 complement C3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2232 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:25662584|REF_RGD_ID:11040807 11876486 C3 complement C3 gene DOID:9002211 Hyperalgesia ISO RGD:2232 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy;mRNA, protein:increased expression:spinal cord PMID:23588254|REF_RGD_ID:7401259 11876486 C3 complement C3 gene DOID:9002457 Experimental Arthritis ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:20051658|REF_RGD_ID:7411688 11876486 C3 complement C3 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:7347767|REF_RGD_ID:11041098 11876486 C3 complement C3 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:17114852|REF_RGD_ID:5129540 11876486 C3 complement C3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2232 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:22320401|REF_RGD_ID:7175513 11876486 C3 complement C3 gene DOID:9002834 Herpesviridae Infections ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:12196286|REF_RGD_ID:5129514 11876486 C3 complement C3 gene DOID:9003565 Paratuberculosis ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22633222 11876486 C3 complement C3 gene DOID:9003690 Carcinoma, Lewis Lung treatment ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:16947020|REF_RGD_ID:7401280 11876486 C3 complement C3 gene DOID:9004009 Reperfusion Injury ISO RGD:2232 D RGD:9068941 20200609 RGD protein:increased expression:intestine PMID:17981193|REF_RGD_ID:5129536 11876486 C3 complement C3 gene DOID:9004484 Sepsis ISO RGD:10256 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:24154627|REF_RGD_ID:11040886 11876486 C3 complement C3 gene DOID:9004484 Sepsis ISO RGD:2232 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:3339873|REF_RGD_ID:7411622 11876486 C3 complement C3 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:22763771|REF_RGD_ID:11040808 11876486 C3 complement C3 gene DOID:9005941 Rhinosinusitis ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19593977|REF_RGD_ID:4889484 11876486 C3 complement C3 gene DOID:9005969 Refractory Anemia with Excess of Blasts disease_progression ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:9741227|REF_RGD_ID:11041158 11876486 C3 complement C3 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:19691975|REF_RGD_ID:7411689 11876486 C3 complement C3 gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:16143328|REF_RGD_ID:7401262 11876486 C3 complement C3 gene DOID:9006646 Metabolic Syndrome ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:16488421|REF_RGD_ID:2314030 11876486 C3 complement C3 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 11876486 C3 complement C3 gene DOID:9006928 Viral Bronchiolitis ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:12235218|REF_RGD_ID:5129513 11876486 C3 complement C3 gene DOID:9006928 Viral Bronchiolitis resistance ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:19258923|REF_RGD_ID:4142862 11876486 C3 complement C3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 11876486 C3 complement C3 gene DOID:9007692 Insulin Resistance ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18615583 11876486 C3 complement C3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2232 D RGD:9068941 20200609 RGD protein:increased expression:myocardium PMID:11560858|REF_RGD_ID:1582136 11876486 C3 complement C3 gene DOID:9008091 Optic Nerve Injuries ISO RGD:2232 D RGD:9068941 20200609 RGD mRNA:increased expression:optic nerve PMID:14577867|REF_RGD_ID:5129542 11876486 C3 complement C3 gene DOID:9008261 Chemically-Induced Disorders ISO RGD:735504 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 11876486 C3 complement C3 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:17962462|REF_RGD_ID:7401263 11876486 C3 complement C3 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:147324|REF_RGD_ID:11040804 11876486 C3 complement C3 gene DOID:9008366 Meningococcal Infections severity ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:3491693|REF_RGD_ID:11041157 11876486 C3 complement C3 gene DOID:9008604 Radiation Pneumonitis ISO RGD:735504 D RGD:9068941 20200609 RGD Protein: increased expression: plasma PMID:20510197|REF_RGD_ID:5129484 11876486 C3 complement C3 gene DOID:9008821 Otitis Media with Effusion disease_progression ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:11037838|REF_RGD_ID:7401253 11876486 C3 complement C3 gene DOID:9065 leishmaniasis ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:15378355|REF_RGD_ID:7401274 11876486 C3 complement C3 gene DOID:9074 systemic lupus erythematosus severity ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased processing PMID:7510492|REF_RGD_ID:11040772 11876486 C3 complement C3 gene DOID:9182 pemphigus ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:74171 11876486 C3 complement C3 gene DOID:9282 ocular hypertension ISO RGD:2232 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina PMID:16677633|REF_RGD_ID:1599509 11876486 C3 complement C3 gene DOID:9282 ocular hypertension ISO RGD:735504 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina PMID:16677633|REF_RGD_ID:1599509 11876486 C3 complement C3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20504758 11876486 C3 complement C3 gene DOID:9408 acute myocardial infarction ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:26476955|REF_RGD_ID:11552746 11876486 C3 complement C3 gene DOID:9498 pulmonary eosinophilia ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:23549917|REF_RGD_ID:7401272 11876486 C3 complement C3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:3253105|REF_RGD_ID:2314031 11876486 C3 complement C3 gene DOID:9970 obesity treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:23118029|REF_RGD_ID:7411625 11876528 FAM81A family with sequence similarity 81 member A gene DOID:2717 Bloom syndrome ISO RGD:1603268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11876528 FAM81A family with sequence similarity 81 member A gene DOID:630 genetic disease ISO RGD:1603268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876528 FAM81A family with sequence similarity 81 member A gene DOID:9256 colorectal cancer ISO RGD:1603268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11876549 SPCS1 signal peptidase complex subunit 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1346470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 11876549 SPCS1 signal peptidase complex subunit 1 gene DOID:630 genetic disease ISO RGD:1346470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876557 AKAP14 A-kinase anchoring protein 14 gene DOID:0050437 Danon disease ISO RGD:1353822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 11876557 AKAP14 A-kinase anchoring protein 14 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11876557 AKAP14 A-kinase anchoring protein 14 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1353822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 11876557 AKAP14 A-kinase anchoring protein 14 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1353822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 11876557 AKAP14 A-kinase anchoring protein 14 gene DOID:12849 autistic disorder ISO RGD:1353822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11876557 AKAP14 A-kinase anchoring protein 14 gene DOID:630 genetic disease ISO RGD:1353822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876568 TMBIM4 transmembrane BAX inhibitor motif containing 4 gene DOID:5119 ovarian cyst ISO RGD:1602117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 11876568 TMBIM4 transmembrane BAX inhibitor motif containing 4 gene DOID:630 genetic disease ISO RGD:1602117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876579 NECTIN4 nectin cell adhesion molecule 4 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1347607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11876579 NECTIN4 nectin cell adhesion molecule 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1347607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11876579 NECTIN4 nectin cell adhesion molecule 4 gene DOID:630 genetic disease ISO RGD:1347607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11876579 NECTIN4 nectin cell adhesion molecule 4 gene DOID:9002370 Ectodermal Dysplasia-Syndactyly Syndrome 1 ISO RGD:1347607 D RGD:7240710 20180130 OMIM 11876579 NECTIN4 nectin cell adhesion molecule 4 gene DOID:9002370 Ectodermal Dysplasia-Syndactyly Syndrome 1 ISO RGD:1347607 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia-syndactyly syndrome 1 PMID:20691405|PMID:21346770|PMID:24577405|PMID:25529316|PMID:25741868|PMID:28492532 11876579 NECTIN4 nectin cell adhesion molecule 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11876591 ZNF682 zinc finger protein 682 gene DOID:630 genetic disease ISO RGD:1603286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876602 MAGEB17 MAGE family member B17 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:2301779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11876602 MAGEB17 MAGE family member B17 gene DOID:12849 autistic disorder ISO RGD:2301779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11876602 MAGEB17 MAGE family member B17 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2301779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11876608 VIL1 villin 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1316011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11876608 VIL1 villin 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1316011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11876608 VIL1 villin 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1316011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11876608 VIL1 villin 1 gene DOID:13580 cholestasis ISO RGD:1316011 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 11876608 VIL1 villin 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1316011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11876608 VIL1 villin 1 gene DOID:630 genetic disease ISO RGD:1316011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876608 VIL1 villin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11876632 TAS1R2 taste 1 receptor member 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1353489 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11876632 TAS1R2 taste 1 receptor member 2 gene DOID:630 genetic disease ISO RGD:1353489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876642 PRDM15 PR/SET domain 15 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1320736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11876642 PRDM15 PR/SET domain 15 gene DOID:0110266 cataract 9 multiple types ISO RGD:1320736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11876642 PRDM15 PR/SET domain 15 gene DOID:630 genetic disease ISO RGD:1320736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876642 PRDM15 PR/SET domain 15 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320736 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11876642 PRDM15 PR/SET domain 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11876642 PRDM15 PR/SET domain 15 gene DOID:9263 homocystinuria ISO RGD:1320736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11876642 PRDM15 PR/SET domain 15 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:0050073 invasive aspergillosis ISO RGD:1350447 D RGD:9068941 20200609 RGD PMID:17298426|REF_RGD_ID:5135501 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:0080158 herpes simplex virus keratitis ISO RGD:733057 D RGD:9068941 20200609 RGD PMID:18798077|REF_RGD_ID:8551819 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:0081267 graft-versus-host disease ISO RGD:733057 D RGD:9068941 20200609 RGD PMID:19218194|REF_RGD_ID:5135435 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:1205 allergic disease ISO RGD:1350447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:733057 D RGD:9068941 20200609 RGD PMID:18624292|REF_RGD_ID:5135483 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:12849 autistic disorder ISO RGD:1350447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:621528 D RGD:9068941 20200609 RGD PMID:15322218|REF_RGD_ID:1598502 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1350447 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion, T cell PMID:9834133|REF_RGD_ID:5135492 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:14004 thoracic aortic aneurysm severity ISO RGD:1350447 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:16014397|REF_RGD_ID:5135442 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:1485 cystic fibrosis ISO RGD:1350447 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion, neutrophil PMID:19017998|REF_RGD_ID:4145632 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:1532 pleural disease ISO RGD:1350447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21357438 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:1591 renovascular hypertension ISO RGD:621528 D RGD:9068941 20200609 RGD PMID:17062848|REF_RGD_ID:2311383 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:2773 contact dermatitis ISO RGD:1350447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:2799 bronchiolitis obliterans ISO RGD:733057 D RGD:9068941 20200609 RGD PMID:12097412|PMID:16709871|REF_RGD_ID:5135441|REF_RGD_ID:5135451 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:2841 asthma ISO RGD:1350447 D RGD:9068941 20200609 RGD protein:decreased expression:respiratory system fluid/secretion, T cell PMID:17641057|REF_RGD_ID:5135484 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:2841 asthma ISO RGD:733057 D RGD:9068941 20200609 RGD PMID:18094012|REF_RGD_ID:4892088 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:2841 asthma severity ISO RGD:1350447 D RGD:9068941 20200609 RGD PMID:16548899|REF_RGD_ID:5143932 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:2841 asthma susceptibility ISO RGD:1350447 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS1+234G>A (human) PMID:16043121|REF_RGD_ID:5143934 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:2921 glomerulonephritis ISO RGD:1350447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12517959 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:2945 severe acute respiratory syndrome ISO RGD:733057 D RGD:9068941 20200619 RGD mRNA:altered expression:lung (mouse) PMID:15356152|REF_RGD_ID:30309221 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:3070 high grade glioma ISO RGD:621528 D RGD:9068941 20200609 RGD PMID:16434036|REF_RGD_ID:5135509 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1350447 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion, neutrophil PMID:19017998|REF_RGD_ID:4145632 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:1350447 D RGD:9068941 20200609 RGD PMID:19218194|REF_RGD_ID:5135435 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:326 ischemia ISO RGD:1350447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12517959 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:3310 atopic dermatitis ISO RGD:1350447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:3525 middle cerebral artery infarction ISO RGD:621528 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:10825390|REF_RGD_ID:632989 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:3770 pulmonary fibrosis ISO RGD:733057 D RGD:9068941 20200609 RGD associated with Lung Injury PMID:15254596|REF_RGD_ID:5135446 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:417 autoimmune disease ISO RGD:1350447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12517959 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:418 systemic scleroderma ISO RGD:1350447 D RGD:9068941 20200609 RGD protein:decreased expression:skin, endothelial cell PMID:21303517|REF_RGD_ID:5135279 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:4247 coronary restenosis ISO RGD:1350447 D RGD:9068941 20200609 RGD PMID:14578618|REF_RGD_ID:1598500 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:437 myasthenia gravis ISO RGD:1350447 D RGD:9068941 20200609 RGD PMID:15843529|REF_RGD_ID:1598501 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:552 pneumonia ISO RGD:1350447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:552 pneumonia ISO RGD:733057 D RGD:9068941 20200609 RGD PMID:15265940|REF_RGD_ID:5135445 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:552 pneumonia ISO RGD:733057 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;mRNA:increased expression:lung PMID:14979941|REF_RGD_ID:5135491 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:630 genetic disease ISO RGD:1350447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1350447 D RGD:9068941 20200609 RGD protein:increased expression:synovial fluid, neutrophil PMID:19017998|REF_RGD_ID:4145632 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:820 myocarditis ISO RGD:621528 D RGD:9068941 20200609 RGD PMID:15322218|REF_RGD_ID:1598502 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1350447 D RGD:9068941 20200609 RGD PMID:19842835|REF_RGD_ID:4145620 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:841 extrinsic allergic alveolitis ISO RGD:733057 D RGD:9068941 20200609 RGD PMID:14991597|REF_RGD_ID:5135448 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:8577 ulcerative colitis ISO RGD:1350447 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood immature plasma cells PMID:21087446|REF_RGD_ID:6480657 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:874 bacterial pneumonia ISO RGD:733057 D RGD:9068941 20200609 RGD PMID:15618188|REF_RGD_ID:5135459 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:9000310 Lung Injury ISO RGD:733057 D RGD:9068941 20200609 RGD PMID:17086735|REF_RGD_ID:5135486 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733057 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:16885372|REF_RGD_ID:5135487 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:621528 D RGD:9068941 20200609 RGD PMID:15884054|REF_RGD_ID:5143937 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:621528 D RGD:9068941 20200609 RGD PMID:21038468|REF_RGD_ID:5135506 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:621528 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:17549754|REF_RGD_ID:2311381 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:9004009 Reperfusion Injury ISO RGD:621528 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:18589091|REF_RGD_ID:2311376 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:9005372 Inflammation ISO RGD:1350447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12517959 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1350447 D RGD:9068941 20200609 RGD PMID:20561238|REF_RGD_ID:5135493 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:9007096 Stroke ISO RGD:1350447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:621528 D RGD:9068941 20200609 RGD PMID:15843529|PMID:19232748|REF_RGD_ID:1598501|REF_RGD_ID:2311364 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:9008680 Respiratory Tract Infections ISO RGD:733057 D RGD:9068941 20200609 RGD PMID:19039768|REF_RGD_ID:4892119 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:9675 pulmonary emphysema ISO RGD:1350447 D RGD:9068941 20200609 RGD PMID:15526056|REF_RGD_ID:4892104 11876705 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:986 alopecia areata ISO RGD:1350447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22358057 11876714 THAP3 THAP domain containing 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1351040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11876714 THAP3 THAP domain containing 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1351040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11876714 THAP3 THAP domain containing 3 gene DOID:630 genetic disease ISO RGD:1351040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876714 THAP3 THAP domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11876721 WASL WASP like actin nucleation promoting factor gene DOID:3310 atopic dermatitis ISO RGD:1553011 D RGD:9068941 20220825 MouseDO OMIM:603165 11876721 WASL WASP like actin nucleation promoting factor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11876721 WASL WASP like actin nucleation promoting factor gene DOID:630 genetic disease ISO RGD:1347655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876721 WASL WASP like actin nucleation promoting factor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1347655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11876735 HHEX hematopoietically expressed homeobox gene DOID:0050770 polycystic liver disease ISO RGD:1350411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 11876735 HHEX hematopoietically expressed homeobox gene DOID:630 genetic disease ISO RGD:1350411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876735 HHEX hematopoietically expressed homeobox gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1350411 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 11876735 HHEX hematopoietically expressed homeobox gene DOID:9008939 Breast Neoplasms ISO RGD:1350411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16854221 11876735 HHEX hematopoietically expressed homeobox gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104008 11876735 HHEX hematopoietically expressed homeobox gene DOID:9452 fatty liver disease ISO RGD:1350411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24469900 11876742 LOC100989330 keratin-associated protein 26-1 gene DOID:630 genetic disease ISO RGD:1603240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876747 NPTN neuroplastin gene DOID:10763 hypertension ISO RGD:733531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 11876747 NPTN neuroplastin gene DOID:1935 Bardet-Biedl syndrome ISO RGD:733531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11876747 NPTN neuroplastin gene DOID:2717 Bloom syndrome ISO RGD:733531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11876747 NPTN neuroplastin gene DOID:3320 Tay-Sachs disease ISO RGD:733531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 11876747 NPTN neuroplastin gene DOID:5419 schizophrenia ISO RGD:733531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11876747 NPTN neuroplastin gene DOID:630 genetic disease ISO RGD:733531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876747 NPTN neuroplastin gene DOID:9007102 Myocardial Ischemia ISO RGD:733531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11876747 NPTN neuroplastin gene DOID:9008582 Developmental Disease ISO RGD:733531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11876747 NPTN neuroplastin gene DOID:9256 colorectal cancer ISO RGD:733531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11876767 SMIM24 small integral membrane protein 24 gene DOID:630 genetic disease ISO RGD:3380006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876767 SMIM24 small integral membrane protein 24 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:3380006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11876779 FMO2 flavin containing dimethylaniline monoxygenase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:733627 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11876779 FMO2 flavin containing dimethylaniline monoxygenase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:733627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11876779 FMO2 flavin containing dimethylaniline monoxygenase 2 gene DOID:289 endometriosis ISO RGD:733627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11876779 FMO2 flavin containing dimethylaniline monoxygenase 2 gene DOID:630 genetic disease ISO RGD:733627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876779 FMO2 flavin containing dimethylaniline monoxygenase 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:733627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 11876779 FMO2 flavin containing dimethylaniline monoxygenase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1316933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:0050745 diffuse large B-cell lymphoma disease_progression ISO RGD:1316933 D RGD:9068941 20200609 RGD DNA:SNP: :rs1801274 (human) PMID:27282998|REF_RGD_ID:11344967 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:0060060 non-Hodgkin lymphoma disease_progression ISO RGD:1316933 D RGD:9068941 20200609 RGD PMID:25850245|REF_RGD_ID:11040778 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:0060903 thrombosis ISO RGD:1316933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11588041 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:0060903 thrombosis ISO RGD:1316933 D RGD:9068941 20200609 RGD PMID:18983497|PMID:20585032|REF_RGD_ID:11040996|REF_RGD_ID:5147987 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:0060903 thrombosis no_association ISO RGD:1316933 D RGD:9068941 20200609 RGD associated with Thrombocytopenia;DNA:polymorphism: :p.H131R (human) PMID:9002937|REF_RGD_ID:5147983 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:0080162 lupus nephritis ISO RGD:1316933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lupus nephritis, susceptibility to PMID:10675363|PMID:15367919|PMID:19915573|PMID:19965803|PMID:24033266|PMID:8636449|PMID:9843982 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:0080179 haemophilus meningitis susceptibility ISO RGD:1316933 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:polymorphism:cds:p.H131R(human) PMID:8648541|REF_RGD_ID:11040885 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1316933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:1037 lymphoid leukemia no_association ISO RGD:1316933 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.H131A (human) PMID:15217834|REF_RGD_ID:11344968 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:1037 lymphoid leukemia treatment ISO RGD:1316933 D RGD:9068941 20200609 RGD PMID:20705761|REF_RGD_ID:11344969 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:1098 fetal erythroblastosis ISO RGD:1316933 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:19129718|REF_RGD_ID:11100009 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:11832 visual epilepsy susceptibility ISO RGD:1316933 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.R131H (human) PMID:17596285|REF_RGD_ID:5508454 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:12134 factor VIII deficiency susceptibility ISO RGD:1316933 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.R131H (human) PMID:24916518|REF_RGD_ID:11040767 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:12177 common variable immunodeficiency ISO RGD:1316933 D RGD:9068941 20200609 RGD protein:decreased expression:blood, monocyte PMID:17900300|REF_RGD_ID:5147988 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:12205 dengue disease severity ISO RGD:1316933 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.H131R(human) PMID:26240159|REF_RGD_ID:13463456 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:12206 dengue hemorrhagic fever susceptibility ISO RGD:1316933 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.H131R(human) PMID:22817980|REF_RGD_ID:11040906 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:1227 neutropenia ISO RGD:1316933 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.R131H (human) PMID:11295474|REF_RGD_ID:11040988 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:12365 malaria ISO RGD:1316933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malaria, severe, susceptibility to PMID:10675363|PMID:15367919|PMID:19915573|PMID:19965803|PMID:24033266|PMID:8636449|PMID:9843982 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:12365 malaria susceptibility ISO RGD:1316933 D RGD:7240710 20190502 OMIM 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:12894 Sjogren's syndrome ISO RGD:1316933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:13139 crescentic glomerulonephritis ISO RGD:71069 D RGD:9068941 20200609 RGD DNA:CNV:3'UTR: PMID:16482158|REF_RGD_ID:2293335 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:13375 temporal arteritis ISO RGD:1316933 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.H131R (human) PMID:16846526|REF_RGD_ID:5147974 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:13378 Kawasaki disease ISO RGD:1316933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22081228|PMID:22446962 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:14067 Plasmodium falciparum malaria severity ISO RGD:1316933 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R131H (rs1801274) (human) PMID:18194515|REF_RGD_ID:5147927 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:1485 cystic fibrosis ISO RGD:1316933 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis PMID:10675363|PMID:15367919|PMID:19915573|PMID:19965803|PMID:24033266|PMID:25741868|PMID:8636449|PMID:9843982 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:1485 cystic fibrosis susceptibility ISO RGD:1316933 D RGD:7240710 20230505 OMIM 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:1540 parathyroid carcinoma ISO RGD:1316933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:1556 arthus reaction treatment ISO RGD:1316933 D RGD:9068941 20200609 RGD PMID:10762218|REF_RGD_ID:9588604 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:1579 respiratory system disease susceptibility ISO RGD:1316933 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.H131R (human) PMID:16550341|REF_RGD_ID:4144095 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:1580 diffuse scleroderma ISO RGD:1316933 D RGD:9068941 20200609 RGD PMID:8254199|REF_RGD_ID:5147984 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:1588 thrombocytopenia ISO RGD:1316933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11588041 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:1588 thrombocytopenia ISO RGD:1316933 D RGD:9068941 20200609 RGD PMID:10201963|REF_RGD_ID:11040944 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:1936 atherosclerosis onset ISO RGD:1316933 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.H131R (human) PMID:19490059|REF_RGD_ID:5147923 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:2377 multiple sclerosis no_association ISO RGD:1316933 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.H131R (human) PMID:12864991|REF_RGD_ID:5147977 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:2841 asthma ISO RGD:1316933 D RGD:9068941 20200609 RGD protein:increased expression:alveolar macrophage PMID:9117017|REF_RGD_ID:5147982 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:3310 atopic dermatitis severity ISO RGD:1316933 D RGD:9068941 20200609 RGD protein:increased expression:eosinophil PMID:7564170|REF_RGD_ID:5147985 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:3393 coronary artery disease ISO RGD:1316933 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.H131R (human) PMID:20973705|REF_RGD_ID:5147917 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:583 hemolytic anemia ISO RGD:1316933 D RGD:9068941 20200609 RGD PMID:15982355|REF_RGD_ID:11040945 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:614 lymphopenia susceptibility ISO RGD:1316933 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.R131H (human) PMID:17596285|REF_RGD_ID:5508454 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:630 genetic disease ISO RGD:1316933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:7148 rheumatoid arthritis ISO RGD:1316933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:7148 rheumatoid arthritis ISO RGD:1316933 D RGD:9068941 20200609 RGD PMID:8254199|REF_RGD_ID:5147984 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:7148 rheumatoid arthritis ISO RGD:1316933 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.H131R (human) PMID:12508778|REF_RGD_ID:5147978 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:8398 osteoarthritis ISO RGD:1316933 D RGD:9068941 20200609 RGD PMID:8254199|REF_RGD_ID:5147984 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:8552 chronic myeloid leukemia ISO RGD:1316933 D RGD:9068941 20200609 RGD PMID:8632671|REF_RGD_ID:11344957 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:8577 ulcerative colitis ISO RGD:1316933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19915573|PMID:20228799 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:8577 ulcerative colitis ISO RGD:1316933 D RGD:9068941 20200609 RGD DNA:SNP: :rs1801274 (human) PMID:19915573|REF_RGD_ID:5147922 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:8577 ulcerative colitis susceptibility ISO RGD:1316933 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A519G (human) PMID:20848524|REF_RGD_ID:5147918 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:8778 Crohn's disease susceptibility ISO RGD:1316933 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A519G (human) PMID:20848524|REF_RGD_ID:5147918 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:8893 psoriasis ISO RGD:1316933 D RGD:9068941 20200609 RGD mRNA:increased expression:dermal dendritic cell PMID:20471070|REF_RGD_ID:5147919 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:8924 autoimmune thrombocytopenic purpura no_association ISO RGD:1316933 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.R131H (human) PMID:23249566|REF_RGD_ID:11040990 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:8924 autoimmune thrombocytopenic purpura susceptibility ISO RGD:1316933 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.R131H (human) PMID:22123287|REF_RGD_ID:11040989 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:1316933 D RGD:9068941 20200609 RGD PMID:21131591|REF_RGD_ID:11040933 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:9002498 Wallerian Degeneration ISO RGD:71069 D RGD:9068941 20200609 RGD mRNA:increased expression:sciatic nerve, macrophage PMID:1533683|REF_RGD_ID:2316290 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:9004283 Transplant Rejection treatment ISO RGD:1316933 D RGD:9068941 20200609 RGD PMID:10762218|REF_RGD_ID:9588604 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:9004610 Acute Lung Injury ISO RGD:71069 D RGD:9068941 20200609 RGD PMID:19106808|REF_RGD_ID:5147925 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:9005036 Bacteremia ISO RGD:1316933 D RGD:9068941 20200609 RGD associated with Pneumonia;DNA:SNP: :p.H131R (rs1801274) (human) PMID:21317643|REF_RGD_ID:5147986 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:9007096 Stroke susceptibility ISO RGD:1316933 D RGD:9068941 20200609 RGD DNA:SNPs:enhancers: (rs7512140, rs7535475) (human) PMID:20034444|REF_RGD_ID:5147920 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:9007096 Stroke susceptibility ISO RGD:1316933 D RGD:9068941 20200609 RGD DNA:SNPs:enhancers:multiple PMID:19357503|REF_RGD_ID:5147924 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:9007278 Anaphylaxis ISO RGD:1316933 D RGD:9068941 20200609 RGD PMID:26396093|REF_RGD_ID:11040995 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:9007278 Anaphylaxis susceptibility ISO RGD:1316933 D RGD:9068941 20200609 RGD associated with Agammaglobulinemia;DNA:mutation:splice junction: PMID:23545275|REF_RGD_ID:11040993 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:9007417 Pseudomonas Infections ISO RGD:1316933 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis; DNA:polymorphism: :p.H131R (human) PMID:15367919|REF_RGD_ID:4144121 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:9008208 Heparin-induced Thrombocytopenia ISO RGD:1316933 D RGD:9068941 20200609 RGD PMID:8772238|REF_RGD_ID:11040889 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:9008366 Meningococcal Infections ISO RGD:1316933 D RGD:9068941 20200609 RGD associated with complement deficiency;DNA:missense mutation:cds:p.H131R (human) PMID:10792385|REF_RGD_ID:5147980 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:9008366 Meningococcal Infections severity ISO RGD:1316933 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.H131R (human) PMID:11812402|REF_RGD_ID:11040998 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:9074 systemic lupus erythematosus ISO RGD:1316933 D RGD:9068941 20230506 CTD CTD Direct Evidence: marker/mechanism PMID:18204446 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:9074 systemic lupus erythematosus ISO RGD:1316933 D RGD:9068941 20230506 RGD PMID:17557887|PMID:21719445|PMID:8254199|REF_RGD_ID:5147916|REF_RGD_ID:5147972|REF_RGD_ID:5147984 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:9074 systemic lupus erythematosus ISO RGD:1316933 D RGD:9068941 20230506 RGD DNA:SNP (human) PMID:18204446|REF_RGD_ID:5147926 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:9074 systemic lupus erythematosus ISO RGD:1316933 D RGD:9068941 20230506 RGD DNA:polymorphism:cds:p.H131R (human) PMID:17092257|REF_RGD_ID:5147973 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:9074 systemic lupus erythematosus ISO RGD:1316933 D RGD:9068941 20230506 RGD protein:decreased expression:blood, monocyte PMID:14747618|REF_RGD_ID:5147976 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:1316933 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.H131R (human) PMID:11561111|REF_RGD_ID:5147979 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1316933 D RGD:7240710 20230505 OMIM 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:9538 multiple myeloma disease_progression ISO RGD:1316933 D RGD:9068941 20200609 RGD PMID:25850245|REF_RGD_ID:11040778 11876799 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a gene DOID:9538 multiple myeloma susceptibility ISO RGD:1316933 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs1801274(human) PMID:17315188|REF_RGD_ID:11040938 11876801 EXD3 exonuclease 3'-5' domain containing 3 gene DOID:0050777 Joubert syndrome ISO RGD:1606281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11876801 EXD3 exonuclease 3'-5' domain containing 3 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1606281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 11876801 EXD3 exonuclease 3'-5' domain containing 3 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1606281 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 11876801 EXD3 exonuclease 3'-5' domain containing 3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1606281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11876801 EXD3 exonuclease 3'-5' domain containing 3 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1606281 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11876801 EXD3 exonuclease 3'-5' domain containing 3 gene DOID:0081097 Rafiq syndrome ISO RGD:1606281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11876801 EXD3 exonuclease 3'-5' domain containing 3 gene DOID:1826 epilepsy ISO RGD:1606281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11876801 EXD3 exonuclease 3'-5' domain containing 3 gene DOID:630 genetic disease ISO RGD:1606281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876801 EXD3 exonuclease 3'-5' domain containing 3 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1606281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11876844 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:0050700 cardiomyopathy ISO RGD:731052 D RGD:9068941 20200609 RGD PMID:21220706|REF_RGD_ID:10400890 11876844 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:0060778 congenital diarrhea 7 with exudative enteropathy ISO RGD:731052 D RGD:7240710 20190904 OMIM 11876844 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:0060778 congenital diarrhea 7 with exudative enteropathy ISO RGD:731052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital diarrhea 7 with exudative enteropathy PMID:16199547|PMID:23114594|PMID:25326635|PMID:25741868|PMID:26883093|PMID:28373485|PMID:28492532|PMID:29604290|PMID:30237576|PMID:31778854|PMID:33607125 11876844 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:0070223 progressive familial intrahepatic cholestasis 3 ISO RGD:731052 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Low Gamma-GT Familial Intrahepatic Cholestasis PMID:25741868|PMID:28492532 11876844 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:731052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11876844 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11876844 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:1184 nephrotic syndrome ISO RGD:628673 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:15200432|REF_RGD_ID:10400845 11876844 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:13250 diarrhea ISO RGD:731052 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11876844 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:4621 holoprosencephaly ISO RGD:731052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11876844 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:5082 liver cirrhosis treatment ISO RGD:731053 D RGD:9068941 20200609 RGD associated with Non-alcoholic Fatty Liver Disease; PMID:18000880|REF_RGD_ID:10400849 11876844 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:630 genetic disease ISO RGD:731052 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23114594|PMID:25326635|PMID:25741868|PMID:26883093|PMID:28492532 11876844 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:784 chronic kidney disease ISO RGD:628673 D RGD:9068941 20200609 RGD protein:decreased expression:liver: PMID:23045433|REF_RGD_ID:10400847 11876844 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:9006599 Hypertriglyceridemia treatment ISO RGD:731053 D RGD:9068941 20200609 RGD PMID:18183944|REF_RGD_ID:10401058 11876844 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:731053 D RGD:9068941 20200609 RGD PMID:21990351|REF_RGD_ID:10401057 11876844 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:9008550 Vitamin A Deficiency ISO RGD:628673 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:17047345|REF_RGD_ID:13782261 11876844 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:9970 obesity ISO RGD:731053 D RGD:9068941 20200609 RGD PMID:10802663|REF_RGD_ID:734536 11876844 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:9970 obesity no_association ISO RGD:731052 D RGD:9068941 20200609 RGD DNA:polymorphism:C97T PMID:14569040|REF_RGD_ID:1625597 11876844 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:9970 obesity treatment ISO RGD:731053 D RGD:9068941 20200609 RGD PMID:18183944|REF_RGD_ID:10401058 11876893 DCDC2 doublecortin domain containing 2 gene DOID:0050563 nonsyndromic deafness ISO RGD:1321007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Deafness PMID:16244493|PMID:25601850 11876893 DCDC2 doublecortin domain containing 2 gene DOID:0060175 succinic semialdehyde dehydrogenase deficiency ISO RGD:1321007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency PMID:28492532 11876893 DCDC2 doublecortin domain containing 2 gene DOID:0060357 chylomicron retention disease ISO RGD:1321007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chylomicron retention disease PMID:25741868|PMID:27469900 11876893 DCDC2 doublecortin domain containing 2 gene DOID:0110517 autosomal recessive nonsyndromic deafness 66 ISO RGD:1321007 D RGD:7240710 20180130 OMIM 11876893 DCDC2 doublecortin domain containing 2 gene DOID:0110517 autosomal recessive nonsyndromic deafness 66 ISO RGD:1321007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 66 PMID:16199547|PMID:16244493|PMID:23677054|PMID:23746548|PMID:25557784|PMID:25601850|PMID:25741868|PMID:26467025|PMID:27319779|PMID:27469900|PMID:28440294|PMID:28461130|PMID:28461131|PMID:28492532|PMID:31589614|PMID:31821705 11876893 DCDC2 doublecortin domain containing 2 gene DOID:0111126 nephronophthisis 19 ISO RGD:1321007 D RGD:7240710 20180130 OMIM 11876893 DCDC2 doublecortin domain containing 2 gene DOID:0111126 nephronophthisis 19 ISO RGD:1321007 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis 19 PMID:25557784|PMID:25741868|PMID:26467025|PMID:27319779|PMID:27469900|PMID:28492532|PMID:31589614|PMID:31821705 11876893 DCDC2 doublecortin domain containing 2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1321007 D RGD:9068941 20200609 RGD DNA:snp:intron:c.923-1870T>C (human) (rs793862) PMID:27501527|REF_RGD_ID:12910980 11876893 DCDC2 doublecortin domain containing 2 gene DOID:14268 sclerosing cholangitis ISO RGD:1321007 D RGD:7240710 20220420 OMIM 11876893 DCDC2 doublecortin domain containing 2 gene DOID:14268 sclerosing cholangitis ISO RGD:1321007 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Isolated neonatal sclerosing cholangitis PMID:16199547|PMID:23677054|PMID:23746548|PMID:25557784|PMID:25741868|PMID:26467025|PMID:27319779|PMID:27469900|PMID:28440294|PMID:28461130|PMID:28461131|PMID:28492532|PMID:31589614|PMID:31821705 11876893 DCDC2 doublecortin domain containing 2 gene DOID:4428 dyslexia ISO RGD:1622142 D RGD:9068941 20200609 RGD PMID:25130614|REF_RGD_ID:12910976 11876893 DCDC2 doublecortin domain containing 2 gene DOID:4428 dyslexia susceptibility ISO RGD:1321007 D RGD:9068941 20200609 RGD DNA:deletion, snps:introns:multiple (human) PMID:19238550|REF_RGD_ID:12910975 11876893 DCDC2 doublecortin domain containing 2 gene DOID:4428 dyslexia susceptibility ISO RGD:1321007 D RGD:9068941 20200609 RGD DNA:snp:intron:c.760-430G>A (human) (rs807724) PMID:27100778|REF_RGD_ID:11532935 11876893 DCDC2 doublecortin domain containing 2 gene DOID:4428 dyslexia susceptibility ISO RGD:1321007 D RGD:9068941 20200609 RGD DNA:snps:introns:c.558-3950G>C, c.1326+252C>T (human) (rs1091047, rs1419228) PMID:20068590|REF_RGD_ID:12910973 11876893 DCDC2 doublecortin domain containing 2 gene DOID:4428 dyslexia susceptibility ISO RGD:1321007 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:22750057|REF_RGD_ID:12910971 11876893 DCDC2 doublecortin domain containing 2 gene DOID:630 genetic disease ISO RGD:1321007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11876908 NLRP4 NLR family pyrin domain containing 4 gene DOID:630 genetic disease ISO RGD:1323147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876921 PIKFYVE phosphoinositide kinase, FYVE-type zinc finger containing gene DOID:0060448 Fleck corneal dystrophy ISO RGD:1313818 D RGD:7240710 20180130 OMIM 11876921 PIKFYVE phosphoinositide kinase, FYVE-type zinc finger containing gene DOID:0060448 Fleck corneal dystrophy ISO RGD:1313818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fleck corneal dystrophy PMID:15902656|PMID:18558518|PMID:23288988|PMID:25741868|PMID:26396486|PMID:28492532 11876921 PIKFYVE phosphoinositide kinase, FYVE-type zinc finger containing gene DOID:14557 primary pulmonary hypertension ISO RGD:1313818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11876921 PIKFYVE phosphoinositide kinase, FYVE-type zinc finger containing gene DOID:630 genetic disease ISO RGD:1313818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876921 PIKFYVE phosphoinositide kinase, FYVE-type zinc finger containing gene DOID:8778 Crohn's disease ISO RGD:1313819 D RGD:9068941 20220825 MouseDO 11876921 PIKFYVE phosphoinositide kinase, FYVE-type zinc finger containing gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11876981 PFDN2 prefoldin subunit 2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1349968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11876981 PFDN2 prefoldin subunit 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1349968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11876981 PFDN2 prefoldin subunit 2 gene DOID:630 genetic disease ISO RGD:1349968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11876981 PFDN2 prefoldin subunit 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11876989 SNTB1 syntrophin beta 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1317088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11876989 SNTB1 syntrophin beta 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1317088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:28595731 11876989 SNTB1 syntrophin beta 1 gene DOID:630 genetic disease ISO RGD:1317088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877004 DNAJA4 DnaJ heat shock protein family (Hsp40) member A4 gene DOID:2717 Bloom syndrome ISO RGD:1320703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11877004 DNAJA4 DnaJ heat shock protein family (Hsp40) member A4 gene DOID:630 genetic disease ISO RGD:1320703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877004 DNAJA4 DnaJ heat shock protein family (Hsp40) member A4 gene DOID:9256 colorectal cancer ISO RGD:1320703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11877016 TBC1D21 TBC1 domain family member 21 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11877016 TBC1D21 TBC1 domain family member 21 gene DOID:2717 Bloom syndrome ISO RGD:1353455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11877016 TBC1D21 TBC1 domain family member 21 gene DOID:3320 Tay-Sachs disease ISO RGD:1353455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 11877016 TBC1D21 TBC1 domain family member 21 gene DOID:5419 schizophrenia ISO RGD:1353455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11877016 TBC1D21 TBC1 domain family member 21 gene DOID:630 genetic disease ISO RGD:1353455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877016 TBC1D21 TBC1 domain family member 21 gene DOID:9256 colorectal cancer ISO RGD:1353455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11877032 DRP2 dystrophin related protein 2 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:732671 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type X PMID:23999528|PMID:25741868|PMID:26227883|PMID:29473052|PMID:31217940 11877032 DRP2 dystrophin related protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11877032 DRP2 dystrophin related protein 2 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:732671 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 11877032 DRP2 dystrophin related protein 2 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:732671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 11877032 DRP2 dystrophin related protein 2 gene DOID:12849 autistic disorder ISO RGD:732671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11877032 DRP2 dystrophin related protein 2 gene DOID:14499 Fabry disease ISO RGD:732671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:10666480|PMID:12175777|PMID:28492532 11877032 DRP2 dystrophin related protein 2 gene DOID:630 genetic disease ISO RGD:732671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11877032 DRP2 dystrophin related protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:732671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:28492532 11877032 DRP2 dystrophin related protein 2 gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:732671 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 11877061 CC2D1A coiled-coil and C2 domain containing 1A gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1606546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:24026677|PMID:25741868|PMID:27799067|PMID:28492532 11877061 CC2D1A coiled-coil and C2 domain containing 1A gene DOID:0081179 autosomal recessive intellectual developmental disorder 3 ISO RGD:1606546 D RGD:7240710 20180130 OMIM 11877061 CC2D1A coiled-coil and C2 domain containing 1A gene DOID:0081179 autosomal recessive intellectual developmental disorder 3 ISO RGD:1606546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 3 PMID:16033914|PMID:18414213|PMID:21102627|PMID:24026677|PMID:24033266|PMID:25066123|PMID:25741868|PMID:26350204|PMID:27799067|PMID:28492532|PMID:31980526 11877061 CC2D1A coiled-coil and C2 domain containing 1A gene DOID:1059 intellectual disability ISO RGD:1606546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability | ClinVar Annotator: match by term: Intellectual disability PMID:24033266|PMID:25066123|PMID:25741868|PMID:28492532 11877061 CC2D1A coiled-coil and C2 domain containing 1A gene DOID:630 genetic disease ISO RGD:1606546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:21102627|PMID:24026677|PMID:25741868|PMID:26350204|PMID:27799067|PMID:28492532|PMID:28518168|PMID:31980526|PMID:32461654 11877061 CC2D1A coiled-coil and C2 domain containing 1A gene DOID:9008086 Developmental Disabilities ISO RGD:1606546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:32581362 11877079 LOC100994627 ficolin-2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1350900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 11877079 LOC100994627 ficolin-2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11877079 LOC100994627 ficolin-2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1350900 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11877079 LOC100994627 ficolin-2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1350900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11877079 LOC100994627 ficolin-2 gene DOID:0081097 Rafiq syndrome ISO RGD:1350900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11877079 LOC100994627 ficolin-2 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1350900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 11877079 LOC100994627 ficolin-2 gene DOID:1790 malignant mesothelioma ISO RGD:1350900 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 11877079 LOC100994627 ficolin-2 gene DOID:3652 Leigh disease ISO RGD:1350900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11877079 LOC100994627 ficolin-2 gene DOID:630 genetic disease ISO RGD:1350900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877079 LOC100994627 ficolin-2 gene DOID:684 hepatocellular carcinoma ISO RGD:1350900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11877079 LOC100994627 ficolin-2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1350900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:28492532|PMID:29907982 11877110 PIH1D2 PIH1 domain containing 2 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1605009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 11877110 PIH1D2 PIH1 domain containing 2 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1605009 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 11877110 PIH1D2 PIH1 domain containing 2 gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:1605009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:28492532 11877110 PIH1D2 PIH1 domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1605009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11877110 PIH1D2 PIH1 domain containing 2 gene DOID:12704 ataxia telangiectasia ISO RGD:1605009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11877110 PIH1D2 PIH1 domain containing 2 gene DOID:630 genetic disease ISO RGD:1605009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11877110 PIH1D2 PIH1 domain containing 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11877110 PIH1D2 PIH1 domain containing 2 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1605009 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:16049940|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11877124 ZNF622 zinc finger protein 622 gene DOID:630 genetic disease ISO RGD:1319325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877124 ZNF622 zinc finger protein 622 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11877134 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1313282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 11877134 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:10488 imperforate anus ISO RGD:1313282 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Imperforate anus 11877134 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:10534 stomach cancer ISO RGD:1313282 D RGD:9068941 20220204 RGD mRNA:increased expression:stomach (human) PMID:26549737|REF_RGD_ID:11538454 11877134 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:2043 hepatitis B ISO RGD:1313282 D RGD:9068941 20220204 RGD associated with hepatocellular carcinoma;mRNA:increased expression:liver, blood serum (human) PMID:21196414|REF_RGD_ID:151347673 11877134 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1313282 D RGD:9068941 20220204 RGD protein:increased expression:lung (human) PMID:33510968|REF_RGD_ID:151347681 11877134 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1313282 D RGD:9068941 20220204 RGD human cell line in a mouse model PMID:28306189|REF_RGD_ID:151347678 11877134 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1313282 D RGD:9068941 20220204 RGD mRNA, protein:increased expression:lung (human) PMID:22824148|REF_RGD_ID:151347677 11877134 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:630 genetic disease ISO RGD:1313282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877134 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1313282 D RGD:9068941 20220204 RGD human cell line in a mouse model PMID:21196414|REF_RGD_ID:151347673 11877134 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1313282 D RGD:9068941 20220204 RGD human recombinant gene and cell line in a mouse model PMID:27010469|REF_RGD_ID:151347674 11877134 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1313282 D RGD:9068941 20220204 RGD human cell line in a mouse model PMID:31922225|REF_RGD_ID:151347839 11877134 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:9005172 Lung Neoplasms ISO RGD:1313282 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 11877134 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:9256 colorectal cancer ISO RGD:1313282 D RGD:9068941 20220204 RGD mRNA:increased expression:colorectum (human) PMID:25602366|REF_RGD_ID:151347676 11877134 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:9256 colorectal cancer ISO RGD:1313282 D RGD:9068941 20220204 RGD mRNA:splicing variants:colorectum (human) PMID:29138007|REF_RGD_ID:151347675 11877134 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1313282 D RGD:9068941 20220204 RGD mRNA, protein:increased expression:colorectum, lymph node, blood serum (human) PMID:27882171|REF_RGD_ID:151347679 11877134 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1313282 D RGD:9068941 20220204 RGD protein:increased expression:colorectum (human) PMID:20077526|REF_RGD_ID:151347680 11877185 GIMAP6 GTPase, IMAP family member 6 gene DOID:2843 long QT syndrome ISO RGD:1603796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 11877185 GIMAP6 GTPase, IMAP family member 6 gene DOID:612 primary immunodeficiency disease ISO RGD:1603796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary Immune Deficiency PMID:25741868|PMID:33328581 11877185 GIMAP6 GTPase, IMAP family member 6 gene DOID:630 genetic disease ISO RGD:1603796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877197 RIC8A RIC8 guanine nucleotide exchange factor A gene DOID:630 genetic disease ISO RGD:1604802 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877197 RIC8A RIC8 guanine nucleotide exchange factor A gene DOID:9008939 Breast Neoplasms ISO RGD:1604802 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 11877216 GTSE1 G2 and S-phase expressed 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1350308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11877216 GTSE1 G2 and S-phase expressed 1 gene DOID:0080600 COVID-19 ISO RGD:1350308 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11877216 GTSE1 G2 and S-phase expressed 1 gene DOID:1059 intellectual disability ISO RGD:1350308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11877216 GTSE1 G2 and S-phase expressed 1 gene DOID:630 genetic disease ISO RGD:1350308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877216 GTSE1 G2 and S-phase expressed 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1350308 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11877240 MXI1 MAX interactor 1, dimerization protein gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:736546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 11877240 MXI1 MAX interactor 1, dimerization protein gene DOID:10283 prostate cancer ISO RGD:736546 D RGD:7240710 20180418 OMIM 11877240 MXI1 MAX interactor 1, dimerization protein gene DOID:10283 prostate cancer ISO RGD:736546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:7773287 11877240 MXI1 MAX interactor 1, dimerization protein gene DOID:2394 ovarian cancer ISO RGD:736546 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 11877240 MXI1 MAX interactor 1, dimerization protein gene DOID:3458 breast adenocarcinoma ISO RGD:3128 D RGD:9068941 20200609 RGD PMID:10849326|REF_RGD_ID:1298988 11877240 MXI1 MAX interactor 1, dimerization protein gene DOID:3512 neurofibrosarcoma ISO RGD:736546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurofibrosarcoma PMID:10470286 11877240 MXI1 MAX interactor 1, dimerization protein gene DOID:5041 esophageal cancer ISO RGD:3128 D RGD:9068941 20200609 RGD PMID:10849326|REF_RGD_ID:1298988 11877240 MXI1 MAX interactor 1, dimerization protein gene DOID:557 kidney disease ISO RGD:736546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23316056 11877240 MXI1 MAX interactor 1, dimerization protein gene DOID:630 genetic disease ISO RGD:736546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877240 MXI1 MAX interactor 1, dimerization protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:736546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11877267 SPTBN4 spectrin beta, non-erythrocytic 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:1312269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11877267 SPTBN4 spectrin beta, non-erythrocytic 4 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1312269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11877267 SPTBN4 spectrin beta, non-erythrocytic 4 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1312269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11877267 SPTBN4 spectrin beta, non-erythrocytic 4 gene DOID:2340 craniosynostosis ISO RGD:1312269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11877267 SPTBN4 spectrin beta, non-erythrocytic 4 gene DOID:4450 renal cell carcinoma ISO RGD:1312269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 11877267 SPTBN4 spectrin beta, non-erythrocytic 4 gene DOID:630 genetic disease ISO RGD:1312269 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29861105|PMID:34440880 11877267 SPTBN4 spectrin beta, non-erythrocytic 4 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1312269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11877267 SPTBN4 spectrin beta, non-erythrocytic 4 gene DOID:9006836 Contracture ISO RGD:1312269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 11877267 SPTBN4 spectrin beta, non-erythrocytic 4 gene DOID:9007907 Congenital Myopathy with Neuropathy and Deafness ISO RGD:1312269 D RGD:7240710 20190315 OMIM 11877267 SPTBN4 spectrin beta, non-erythrocytic 4 gene DOID:9007907 Congenital Myopathy with Neuropathy and Deafness ISO RGD:1312269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, with neuropathy and deafness PMID:25741868|PMID:28492532|PMID:28540413|PMID:29861105|PMID:34440880 11877267 SPTBN4 spectrin beta, non-erythrocytic 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1312269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11877267 SPTBN4 spectrin beta, non-erythrocytic 4 gene DOID:9269 maple syrup urine disease ISO RGD:1312269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11877309 ZNF490 zinc finger protein 490 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1346780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11877309 ZNF490 zinc finger protein 490 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1346780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11877309 ZNF490 zinc finger protein 490 gene DOID:0111254 glutaric acidemia I ISO RGD:1346780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11877309 ZNF490 zinc finger protein 490 gene DOID:3413 alpha-mannosidosis ISO RGD:1346780 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11877309 ZNF490 zinc finger protein 490 gene DOID:630 genetic disease ISO RGD:1346780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877318 KRBA1 KRAB-A domain containing 1 gene DOID:630 genetic disease ISO RGD:1603293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877363 CIC capicua transcriptional repressor gene DOID:0060041 autism spectrum disorder ISO RGD:1321769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11877363 CIC capicua transcriptional repressor gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:1321769 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability 11877363 CIC capicua transcriptional repressor gene DOID:0080236 autosomal dominant intellectual developmental disorder 45 ISO RGD:1321769 D RGD:7240710 20190315 OMIM 11877363 CIC capicua transcriptional repressor gene DOID:0080236 autosomal dominant intellectual developmental disorder 45 ISO RGD:1321769 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 45 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 PMID:21076407|PMID:24307393|PMID:24728327|PMID:25741868|PMID:28288114|PMID:28492532|PMID:32820034|PMID:34906502|PMID:35165976 11877363 CIC capicua transcriptional repressor gene DOID:0081126 DeSanto-Shinawi syndrome ISO RGD:1321769 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation PMID:25741868 11877363 CIC capicua transcriptional repressor gene DOID:1059 intellectual disability ISO RGD:1321769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 11877363 CIC capicua transcriptional repressor gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1321769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28288114 11877363 CIC capicua transcriptional repressor gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1321769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11877363 CIC capicua transcriptional repressor gene DOID:1342 congenital hypoplastic anemia ISO RGD:1321769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11877363 CIC capicua transcriptional repressor gene DOID:150 disease of mental health ISO RGD:1321770 D RGD:9068941 20220825 MouseDO 11877363 CIC capicua transcriptional repressor gene DOID:1826 epilepsy ISO RGD:1321769 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11877363 CIC capicua transcriptional repressor gene DOID:2340 craniosynostosis ISO RGD:1321769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:28492532 11877363 CIC capicua transcriptional repressor gene DOID:3181 oligodendroglioma ISO RGD:1321769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligodendroglioma 11877363 CIC capicua transcriptional repressor gene DOID:5419 schizophrenia ISO RGD:1321769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11877363 CIC capicua transcriptional repressor gene DOID:630 genetic disease ISO RGD:1321769 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24728327|PMID:25741868|PMID:28492532|PMID:34906502 11877363 CIC capicua transcriptional repressor gene DOID:7154 anaplastic oligodendroglioma ISO RGD:1321769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anaplastic oligodendroglioma 11877363 CIC capicua transcriptional repressor gene DOID:9000965 Neoplasm Metastasis ISO RGD:1321769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869830 11877363 CIC capicua transcriptional repressor gene DOID:9001153 FG Syndrome 4 ISO RGD:1321769 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: FG syndrome 4 PMID:25741868 11877363 CIC capicua transcriptional repressor gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1321769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18337722 11877363 CIC capicua transcriptional repressor gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1321769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11877363 CIC capicua transcriptional repressor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11877363 CIC capicua transcriptional repressor gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1321769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:28288114 11877363 CIC capicua transcriptional repressor gene DOID:9006994 INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN ISO RGD:1321769 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with persistence of fetal hemoglobin PMID:25741868 11877363 CIC capicua transcriptional repressor gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:1321769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 11877363 CIC capicua transcriptional repressor gene DOID:9269 maple syrup urine disease ISO RGD:1321769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11877388 BRD1 bromodomain containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1323531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984751|PMID:25255310 11877388 BRD1 bromodomain containing 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1323531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11877388 BRD1 bromodomain containing 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1323531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11877388 BRD1 bromodomain containing 1 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1323531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:28492532 11877388 BRD1 bromodomain containing 1 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1323531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 11877388 BRD1 bromodomain containing 1 gene DOID:1059 intellectual disability ISO RGD:1323531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11877388 BRD1 bromodomain containing 1 gene DOID:11832 visual epilepsy ISO RGD:1311855 D RGD:9068941 20200609 RGD PMID:22675730|REF_RGD_ID:9586108 11877388 BRD1 bromodomain containing 1 gene DOID:3312 bipolar disorder susceptibility ISO RGD:1323531 D RGD:9068941 20200609 RGD DNA,SNP,haplotype:3'UTR: PMID:16924267|REF_RGD_ID:9586096 11877388 BRD1 bromodomain containing 1 gene DOID:5419 schizophrenia no_association ISO RGD:1323531 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs138880(human) PMID:19908236|REF_RGD_ID:9586358 11877388 BRD1 bromodomain containing 1 gene DOID:5419 schizophrenia susceptibility ISO RGD:1323531 D RGD:9068941 20200609 RGD DNA,SNPs,haplotype:promoter,3'UTR: PMID:16924267|REF_RGD_ID:9586096 11877388 BRD1 bromodomain containing 1 gene DOID:630 genetic disease ISO RGD:1323531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877417 DAGLA diacylglycerol lipase alpha gene DOID:0050773 paraganglioma ISO RGD:1343376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:22241717|PMID:26096992|PMID:28492532 11877417 DAGLA diacylglycerol lipase alpha gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1343376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11877417 DAGLA diacylglycerol lipase alpha gene DOID:1059 intellectual disability ISO RGD:1343376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11877417 DAGLA diacylglycerol lipase alpha gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1343376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:28332277 11877417 DAGLA diacylglycerol lipase alpha gene DOID:1324 lung cancer ISO RGD:1343376 D RGD:9068941 20220217 RGD DNA:SNP:rs60507107 (human) PMID:25592173|REF_RGD_ID:151356746 11877417 DAGLA diacylglycerol lipase alpha gene DOID:630 genetic disease ISO RGD:1343376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877417 DAGLA diacylglycerol lipase alpha gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:1343376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:22241717|PMID:26096992|PMID:28492532 11877447 IFT56 intraflagellar transport 56 gene DOID:0050876 Caroli disease ISO RGD:1605330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Caroli disease PMID:31595528|PMID:32617964 11877447 IFT56 intraflagellar transport 56 gene DOID:0080690 RASopathy ISO RGD:1605330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 11877447 IFT56 intraflagellar transport 56 gene DOID:10908 hydrocephalus ISO RGD:1605330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrocephalus PMID:31595528|PMID:34177428 11877447 IFT56 intraflagellar transport 56 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11877447 IFT56 intraflagellar transport 56 gene DOID:630 genetic disease ISO RGD:1605330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877447 IFT56 intraflagellar transport 56 gene DOID:9003053 BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME ISO RGD:1605330 D RGD:7240710 20211208 OMIM 11877447 IFT56 intraflagellar transport 56 gene DOID:9003053 BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME ISO RGD:1605330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Biliary, renal, neurologic, and skeletal syndrome PMID:31595528|PMID:32617964|PMID:34177428 11877474 MYF5 myogenic factor 5 gene DOID:0060249 scoliosis ISO RGD:1318025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:10844060|PMID:29887215 11877474 MYF5 myogenic factor 5 gene DOID:630 genetic disease ISO RGD:1318025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877474 MYF5 myogenic factor 5 gene DOID:9003625 OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES ISO RGD:1318025 D RGD:7240710 20210414 OMIM 11877474 MYF5 myogenic factor 5 gene DOID:9003625 OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES ISO RGD:1318025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ophthalmoplegia, external, with rib and vertebral anomalies PMID:10844060|PMID:25741868|PMID:29887215 11877481 TRMT12 tRNA methyltransferase 12 homolog gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1605990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11877481 TRMT12 tRNA methyltransferase 12 homolog gene DOID:630 genetic disease ISO RGD:1605990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877486 ACTR10 actin related protein 10 gene DOID:630 genetic disease ISO RGD:1315176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877503 EIF4B eukaryotic translation initiation factor 4B gene DOID:0060041 autism spectrum disorder ISO RGD:1315118 D RGD:9068941 20200609 RGD protein:decreased expression:fusiform gyrus PMID:25627160|REF_RGD_ID:11049140 11877503 EIF4B eukaryotic translation initiation factor 4B gene DOID:1470 major depressive disorder ISO RGD:1315118 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex PMID:21635931|REF_RGD_ID:11049139 11877503 EIF4B eukaryotic translation initiation factor 4B gene DOID:630 genetic disease ISO RGD:1315118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877521 TRAPPC5 trafficking protein particle complex subunit 5 gene DOID:0080490 mucolipidosis type IV ISO RGD:1344244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11877521 TRAPPC5 trafficking protein particle complex subunit 5 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1344244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 11877521 TRAPPC5 trafficking protein particle complex subunit 5 gene DOID:630 genetic disease ISO RGD:1344244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877543 FERMT3 FERM domain containing kindlin 3 gene DOID:0110910 leukocyte adhesion deficiency 1 ISO RGD:1602673 D RGD:9068941 20200609 RGD DNA:nonsense mutations:exon:p.R509X, p.R573X, p.W229X (human) PMID:19064721|REF_RGD_ID:11352306 11877543 FERMT3 FERM domain containing kindlin 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602673 D RGD:7240710 20180130 OMIM 11877543 FERMT3 FERM domain containing kindlin 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:12511588|PMID:16199547|PMID:17576681|PMID:18779414|PMID:19064721|PMID:19234460|PMID:19234463|PMID:20357244|PMID:21441448|PMID:22134107|PMID:22564402|PMID:24033266|PMID:25741868|PMID:26359933|PMID:28492532|PMID:9536098 11877543 FERMT3 FERM domain containing kindlin 3 gene DOID:1059 intellectual disability ISO RGD:1602673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11877543 FERMT3 FERM domain containing kindlin 3 gene DOID:13533 osteopetrosis ISO RGD:1602673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18278053 11877543 FERMT3 FERM domain containing kindlin 3 gene DOID:2218 blood platelet disease ISO RGD:1602673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18278053 11877543 FERMT3 FERM domain containing kindlin 3 gene DOID:2394 ovarian cancer ISO RGD:1310168 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:22818854|REF_RGD_ID:11035257 11877543 FERMT3 FERM domain containing kindlin 3 gene DOID:3070 high grade glioma ISO RGD:1602673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11877543 FERMT3 FERM domain containing kindlin 3 gene DOID:630 genetic disease ISO RGD:1602673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11877543 FERMT3 FERM domain containing kindlin 3 gene DOID:6612 leukocyte adhesion deficiency ISO RGD:1602673 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency PMID:25741868|PMID:28492532 11877543 FERMT3 FERM domain containing kindlin 3 gene DOID:9000146 Plaque, Atherosclerotic severity ISO RGD:1602673 D RGD:9068941 20200609 RGD mRNA:increased expression:artery PMID:26188538|REF_RGD_ID:11085957 11877543 FERMT3 FERM domain containing kindlin 3 gene DOID:9008217 Hemorrhage ISO RGD:1602673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18278053 11877543 FERMT3 FERM domain containing kindlin 3 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1602673 D RGD:9068941 20200609 RGD PMID:22391155|REF_RGD_ID:11352307 11877562 NACAD NAC alpha domain containing gene DOID:0060670 cerebral cavernous malformation 2 ISO RGD:1625090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 2 PMID:17160895|PMID:28492532 11877562 NACAD NAC alpha domain containing gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1625090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11877562 NACAD NAC alpha domain containing gene DOID:630 genetic disease ISO RGD:1625090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877575 PRPF19 pre-mRNA processing factor 19 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1353674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11877575 PRPF19 pre-mRNA processing factor 19 gene DOID:1059 intellectual disability ISO RGD:1353674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11877575 PRPF19 pre-mRNA processing factor 19 gene DOID:630 genetic disease ISO RGD:1353674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877575 PRPF19 pre-mRNA processing factor 19 gene DOID:9000217 Stomach Neoplasms ISO RGD:1353674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11877575 PRPF19 pre-mRNA processing factor 19 gene DOID:9000918 Disease Progression ISO RGD:1353674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11877575 PRPF19 pre-mRNA processing factor 19 gene DOID:9008386 Hydrops Fetalis ISO RGD:1353674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 11877595 VEZT vezatin, adherens junctions transmembrane protein gene DOID:630 genetic disease ISO RGD:1602106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877660 BID BH3 interacting domain death agonist gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:620160 D RGD:9068941 20200609 RGD associated with gastric adenocarcinoma PMID:29588340|REF_RGD_ID:13792594 11877660 BID BH3 interacting domain death agonist gene DOID:0111996 immunodeficiency 51 ISO RGD:1346183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11877660 BID BH3 interacting domain death agonist gene DOID:11650 bronchopulmonary dysplasia ISO RGD:620160 D RGD:9068941 20200609 RGD PMID:26431790|REF_RGD_ID:11537057 11877660 BID BH3 interacting domain death agonist gene DOID:1793 pancreatic cancer ISO RGD:1346183 D RGD:9068941 20200609 RGD PMID:15943879|REF_RGD_ID:2317560 11877660 BID BH3 interacting domain death agonist gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732539 D RGD:9068941 20200609 RGD PMID:29440992|REF_RGD_ID:13506949 11877660 BID BH3 interacting domain death agonist gene DOID:630 genetic disease ISO RGD:1346183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877660 BID BH3 interacting domain death agonist gene DOID:684 hepatocellular carcinoma ISO RGD:1346183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15289866 11877660 BID BH3 interacting domain death agonist gene DOID:9000217 Stomach Neoplasms ISO RGD:1346183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15095271 11877660 BID BH3 interacting domain death agonist gene DOID:9004009 Reperfusion Injury ISO RGD:620160 D RGD:9068941 20200609 RGD PMID:19888517|REF_RGD_ID:2317562 11877660 BID BH3 interacting domain death agonist gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11877660 BID BH3 interacting domain death agonist gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620160 D RGD:9068941 20200609 RGD PMID:19940077|REF_RGD_ID:2317561 11877660 BID BH3 interacting domain death agonist gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620160 D RGD:9068941 20200609 RGD protein:increased cleavage:heart: PMID:11934844|REF_RGD_ID:13782263 11877660 BID BH3 interacting domain death agonist gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1346183 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11877674 LPO lactoperoxidase gene DOID:0050777 Joubert syndrome ISO RGD:1320729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11877674 LPO lactoperoxidase gene DOID:1059 intellectual disability ISO RGD:1320729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11877674 LPO lactoperoxidase gene DOID:630 genetic disease ISO RGD:1320729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877704 BUD13 BUD13 homolog gene DOID:1059 intellectual disability ISO RGD:1606207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11877704 BUD13 BUD13 homolog gene DOID:630 genetic disease ISO RGD:1606207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877704 BUD13 BUD13 homolog gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11877704 BUD13 BUD13 homolog gene DOID:9007661 Dwarfism ISO RGD:1606207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11877718 LOC100993304 olfactory receptor 7G3 gene DOID:12849 autistic disorder ISO RGD:1345338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11877718 LOC100993304 olfactory receptor 7G3 gene DOID:630 genetic disease ISO RGD:1345338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877732 PTCRA pre T cell antigen receptor alpha gene DOID:0050444 infantile Refsum disease ISO RGD:1342695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11877732 PTCRA pre T cell antigen receptor alpha gene DOID:11612 polycystic ovary syndrome ISO RGD:1342695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11877732 PTCRA pre T cell antigen receptor alpha gene DOID:630 genetic disease ISO RGD:1342695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877732 PTCRA pre T cell antigen receptor alpha gene DOID:905 Zellweger syndrome ISO RGD:1342695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:28492532 11877732 PTCRA pre T cell antigen receptor alpha gene DOID:905 Zellweger syndrome ISO RGD:1342695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11877747 TGM6 transglutaminase 6 gene DOID:0050982 spinocerebellar ataxia type 35 ISO RGD:1349690 D RGD:7240710 20180130 OMIM 11877747 TGM6 transglutaminase 6 gene DOID:0050982 spinocerebellar ataxia type 35 ISO RGD:1349690 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 35 PMID:17576681|PMID:21106500|PMID:21907015|PMID:22287014|PMID:22554020|PMID:23206699|PMID:24755948|PMID:25133958|PMID:25253745|PMID:25741868|PMID:26467025|PMID:28135719|PMID:28492532|PMID:28934387|PMID:29482223|PMID:30229425|PMID:30670339|PMID:31785789|PMID:31920494|PMID:32259886|PMID:32426513|PMID:33378849|PMID:34008892|PMID:9536098 11877747 TGM6 transglutaminase 6 gene DOID:0080855 Parkinsonism ISO RGD:1349690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinsonism PMID:25741868 11877747 TGM6 transglutaminase 6 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1349690 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11877747 TGM6 transglutaminase 6 gene DOID:1389 polyneuropathy ISO RGD:1349690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:25741868|PMID:26467025 11877747 TGM6 transglutaminase 6 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1349690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:26467025|PMID:28492532 11877747 TGM6 transglutaminase 6 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1349690 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11877747 TGM6 transglutaminase 6 gene DOID:630 genetic disease ISO RGD:1349690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25133958|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30670339 11877747 TGM6 transglutaminase 6 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1349690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11877747 TGM6 transglutaminase 6 gene DOID:9119 acute myeloid leukemia ISO RGD:1349690 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:21106500|PMID:23206699|PMID:24755948|PMID:25253745|PMID:26467025|PMID:28492532|PMID:28934387|PMID:30229425|PMID:30670339|PMID:31920494|PMID:32259886|PMID:32426513 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:0050073 invasive aspergillosis treatment ISO RGD:737416 D RGD:9068941 20210319 RGD DNA:polymorphisms:cds: PMID:26861072|REF_RGD_ID:124713410 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:0050083 Keshan disease ISO RGD:737416 D RGD:9068941 20210326 RGD mRNA,protein:increased expression:blood cells, serum: PMID:26893848|REF_RGD_ID:124713562 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:0060041 autism spectrum disorder ISO RGD:737416 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:0060224 atrial fibrillation ISO RGD:737416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27356304 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:0060903 thrombosis ISO RGD:737416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20978260 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:10923 sickle cell anemia susceptibility ISO RGD:737416 D RGD:9068941 20200609 RGD DNA:polymorphisms: :c.681 G>A,wildtype(human) PMID:20831548|REF_RGD_ID:11352749 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:1287 cardiovascular system disease ISO RGD:737416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20978260 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:12930 dilated cardiomyopathy ISO RGD:737416 D RGD:9068941 20210326 RGD mRNA,protein:increased expression:blood cells, serum: PMID:26893848|REF_RGD_ID:124713562 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:13922 eosinophilic esophagitis treatment ISO RGD:737416 D RGD:9068941 20200609 RGD DNA:polymorphisms:: PMID:26416193|REF_RGD_ID:11352743 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:14067 Plasmodium falciparum malaria treatment ISO RGD:737416 D RGD:9068941 20210319 RGD DNA:polymorphisms:: PMID:10471063|REF_RGD_ID:124713538 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:1612 breast cancer treatment ISO RGD:737416 D RGD:9068941 20210319 RGD DNA:haplotype: : PMID:26799162|REF_RGD_ID:124713411 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:3021 acute kidney failure ISO RGD:737416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19814645 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:399 tuberculosis treatment ISO RGD:737416 D RGD:9068941 20210319 RGD DNA:polymorphisms:: CYP2C19*17(rs12248560),CYP2C19*2 (c.681C>A; rs4244285)(human) PMID:27393733|REF_RGD_ID:124713542 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:4661 multiple chemical sensitivity susceptibility ISO RGD:737416 D RGD:9068941 20210326 RGD DNA:polymorphism: :CYP2C19*2(human) PMID:23936614|REF_RGD_ID:124713563 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:5426 primary ovarian insufficiency ISO RGD:737416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15248218 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:630 genetic disease ISO RGD:737416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:737416 D RGD:9068941 20210319 RGD associated with hepatitis C; DNA:polymorphisms: : PMID:11021356|REF_RGD_ID:124713413 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:750 peptic ulcer disease susceptibility ISO RGD:737416 D RGD:9068941 20210319 RGD DNA:SNP: :CYP2C19*17(human) PMID:23267857|REF_RGD_ID:124713412 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:750 peptic ulcer disease treatment ISO RGD:737416 D RGD:9068941 20210319 RGD DNA:polymorphisms:exons: PMID:9867757|REF_RGD_ID:124713408 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:783 end stage renal disease ISO RGD:737416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15248218 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:9000252 Allergic Rhinoconjunctivitis treatment ISO RGD:737416 D RGD:9068941 20200609 RGD associated with Eosinophilic Esophagitis; DNA:polymorphisms:: PMID:26416193|REF_RGD_ID:11352743 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:737416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27356304 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:737416 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Acute coronary syndrome PMID:19444287|PMID:21270786|PMID:27441996|PMID:7969038|PMID:9093256 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21716162 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:9002638 Poor Metabolism of Proguanil ISO RGD:737416 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Proguanil, poor metabolism of PMID:18004210|PMID:19444287|PMID:21270786|PMID:27441996|PMID:7969038|PMID:8195181|PMID:9093256 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:9005236 Drug Eruptions susceptibility ISO RGD:737416 D RGD:9068941 20200609 RGD DNA:SNP: :Rs4244285(human) PMID:23551241|REF_RGD_ID:11352742 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:9005236 Drug Eruptions treatment ISO RGD:737416 D RGD:9068941 20210319 RGD associated with tuberculosis; DNA.polymorphism, haplotype:cds:p.W212X (human) PMID:20941486|REF_RGD_ID:124713543 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:9006058 Invasive Fungal Infections treatment ISO RGD:737416 D RGD:9068941 20210319 RGD DNA:polymorphism:: CYP2C19*17(rs12248560)(human) PMID:31222084|REF_RGD_ID:124713541 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:9006058 Invasive Fungal Infections treatment ISO RGD:737416 D RGD:9068941 20210319 RGD DNA:polymorphisms:: PMID:25239277|REF_RGD_ID:124713540 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:9006532 Hematologic Neoplasms treatment ISO RGD:737416 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:21108329|REF_RGD_ID:11352750 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12963435|PMID:28762043 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:9008114 Helicobacter Infections no_association ISO RGD:737416 D RGD:9068941 20210319 RGD PMID:27706745|REF_RGD_ID:124713537 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:9008114 Helicobacter Infections treatment ISO RGD:737416 D RGD:9068941 20210319 RGD DNA:polymorphisms:: PMID:15691303|REF_RGD_ID:124713409 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:9008114 Helicobacter Infections treatment ISO RGD:737416 D RGD:9068941 20210319 RGD DNA:polymorphisms:exons: PMID:9867757|REF_RGD_ID:124713408 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:9008308 Poor Drug Metabolism, CYP2C19-Related ISO RGD:737416 D RGD:7240710 20180509 OMIM 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:9008308 Poor Drug Metabolism, CYP2C19-Related ISO RGD:737416 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: CYP2C19: decreased function | ClinVar Annotator: match by term: CYP2C19: no function | ClinVar Annotator: match by term: CYP2C19: uncertain function | ClinVar Annotator: match by term: Clopidogrel, poor metabolism of | ClinVar Annotator: match by term: Mephenytoin, poor metabolism of PMID:10022751|PMID:18004210|PMID:19444287|PMID:21270786|PMID:21716271|PMID:23698643|PMID:25974703|PMID:27441996|PMID:27981572|PMID:7969038|PMID:8195181|PMID:9093256|PMID:9103550|PMID:9435198 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:9008975 Gastrointestinal Hemorrhage susceptibility ISO RGD:737416 D RGD:9068941 20210319 RGD associated with Gastrointestinal Diseases; DNA:polymorphisms: : PMID:25605208|REF_RGD_ID:124713539 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:619934 D RGD:9068941 20210326 RGD PMID:32742601|REF_RGD_ID:124713564 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:9538 multiple myeloma no_association ISO RGD:737416 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:20684753|REF_RGD_ID:11352804 11877766 CYP2C19 cytochrome P450 family 2 subfamily C member 19 gene DOID:9538 multiple myeloma treatment ISO RGD:737416 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:17666363|REF_RGD_ID:11352748 11877813 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1342669 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 11877813 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1342669 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11877813 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:0060879 primary hypomagnesemia ISO RGD:1342669 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:11062458 11877813 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:0060885 renal hypomagnesemia 2 ISO RGD:1342669 D RGD:7240710 20230505 OMIM 11877813 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:0060885 renal hypomagnesemia 2 ISO RGD:1342669 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Renal Hypomagnesemia, Dominant | ClinVar Annotator: match by term: Renal hypomagnesemia 2 PMID:11062458|PMID:11929868|PMID:12763860|PMID:17576681|PMID:25741868|PMID:25765846|PMID:28492532|PMID:3298795|PMID:9536098 11877813 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:0080690 RASopathy ISO RGD:1342669 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11877813 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1342669 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 11877813 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:0111123 nephronophthisis 15 ISO RGD:1342669 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 11877813 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:0111971 immunodeficiency 18 ISO RGD:1342669 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 11877813 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:0111972 immunodeficiency 19 ISO RGD:1342669 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 11877813 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:0111973 immunodeficiency 17 ISO RGD:1342669 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 11877813 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:1059 intellectual disability ISO RGD:1342669 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Intellectual disability 11877813 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:10763 hypertension ISO RGD:1342669 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 11877813 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:630 genetic disease ISO RGD:1342669 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11877813 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342669 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11877813 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1342669 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11877813 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:9007661 Dwarfism ISO RGD:1342669 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11877854 GAD1 glutamate decarboxylase 1 gene DOID:0050562 West syndrome ISO RGD:730853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile spasms PMID:22662185|PMID:28492532 11877854 GAD1 glutamate decarboxylase 1 gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:730853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitamin B6-dependent seizures PMID:25741868 11877854 GAD1 glutamate decarboxylase 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:730853 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11877854 GAD1 glutamate decarboxylase 1 gene DOID:0112223 developmental and epileptic encephalopathy 89 ISO RGD:730853 D RGD:7240710 20201223 OMIM 11877854 GAD1 glutamate decarboxylase 1 gene DOID:0112223 developmental and epileptic encephalopathy 89 ISO RGD:730853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 89 PMID:25741868|PMID:28492532|PMID:32282878|PMID:32705143|PMID:33146701 11877854 GAD1 glutamate decarboxylase 1 gene DOID:10763 hypertension ISO RGD:730853 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32165127 11877854 GAD1 glutamate decarboxylase 1 gene DOID:10970 spastic quadriplegia ISO RGD:730853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy spastic quadriplegic 11877854 GAD1 glutamate decarboxylase 1 gene DOID:12700 hyperprolactinemia ISO RGD:730853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7138674 11877854 GAD1 glutamate decarboxylase 1 gene DOID:12849 autistic disorder ISO RGD:730853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17918742 11877854 GAD1 glutamate decarboxylase 1 gene DOID:1470 major depressive disorder ISO RGD:730853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15560956 11877854 GAD1 glutamate decarboxylase 1 gene DOID:2030 anxiety disorder susceptibility ISO RGD:730853 D RGD:9068941 20200609 RGD DNA:snp(s) PMID:22328461|REF_RGD_ID:6480264 11877854 GAD1 glutamate decarboxylase 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:730853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28492532|PMID:28832565 11877854 GAD1 glutamate decarboxylase 1 gene DOID:3312 bipolar disorder ISO RGD:730853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15560956 11877854 GAD1 glutamate decarboxylase 1 gene DOID:3312 bipolar disorder ISO RGD:730853 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex layers 2-5 PMID:18534564|REF_RGD_ID:6480428 11877854 GAD1 glutamate decarboxylase 1 gene DOID:5419 schizophrenia ISO RGD:730853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15560956|PMID:17942719|PMID:18923069|PMID:19110320 11877854 GAD1 glutamate decarboxylase 1 gene DOID:5419 schizophrenia ISO RGD:730853 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex layers 2-5 PMID:18534564|REF_RGD_ID:6480428 11877854 GAD1 glutamate decarboxylase 1 gene DOID:5419 schizophrenia ISO RGD:730853 D RGD:9068941 20200609 RGD protein:increased expression:posterior subiculum, parahippocampal gyrus PMID:21250934|REF_RGD_ID:6480427 11877854 GAD1 glutamate decarboxylase 1 gene DOID:5419 schizophrenia no_association ISO RGD:730853 D RGD:9068941 20200609 RGD DNA:snp(s)::Japanese population PMID:17303389|REF_RGD_ID:6480430 11877854 GAD1 glutamate decarboxylase 1 gene DOID:630 genetic disease ISO RGD:730853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11877854 GAD1 glutamate decarboxylase 1 gene DOID:9004548 Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities ISO RGD:730853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities PMID:16199547|PMID:17576681|PMID:22662185|PMID:25741868|PMID:28492532|PMID:28832565|PMID:32282878|PMID:32705143|PMID:33634263|PMID:9084927|PMID:9536098 11877854 GAD1 glutamate decarboxylase 1 gene DOID:9004798 Drug Resistant Epilepsy ISO RGD:730853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intractable epilepsy PMID:25741868 11877854 GAD1 glutamate decarboxylase 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 11877854 GAD1 glutamate decarboxylase 1 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:730853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9767399 11877854 GAD1 glutamate decarboxylase 1 gene DOID:9256 colorectal cancer severity ISO RGD:730853 D RGD:9068941 20220217 RGD mRNA:increased expression:colon (human) PMID:26549033|REF_RGD_ID:151356759 11877854 GAD1 glutamate decarboxylase 1 gene DOID:9351 diabetes mellitus ISO RGD:2652 D RGD:9068941 20200609 RGD PMID:1924335|REF_RGD_ID:728511 11877880 LOC100976396 olfactory receptor 5AN1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1349496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11877880 LOC100976396 olfactory receptor 5AN1 gene DOID:1059 intellectual disability ISO RGD:1349496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11877880 LOC100976396 olfactory receptor 5AN1 gene DOID:630 genetic disease ISO RGD:1349496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877885 DYNLT5 dynein light chain Tctex-type family member 5 gene DOID:1059 intellectual disability ISO RGD:1603544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11877885 DYNLT5 dynein light chain Tctex-type family member 5 gene DOID:630 genetic disease ISO RGD:1603544 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877894 UBE2D4 ubiquitin conjugating enzyme E2 D4 (putative) gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11877894 UBE2D4 ubiquitin conjugating enzyme E2 D4 (putative) gene DOID:630 genetic disease ISO RGD:1347506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877895 TCEA3 transcription elongation factor A3 gene DOID:630 genetic disease ISO RGD:1322790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877895 TCEA3 transcription elongation factor A3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1322790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11877914 TAB1 TGF-beta activated kinase 1 (MAP3K7) binding protein 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1314707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11877914 TAB1 TGF-beta activated kinase 1 (MAP3K7) binding protein 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1314707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11877914 TAB1 TGF-beta activated kinase 1 (MAP3K7) binding protein 1 gene DOID:630 genetic disease ISO RGD:1314707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877929 PASK PAS domain containing serine/threonine kinase gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1314594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11877929 PASK PAS domain containing serine/threonine kinase gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1314594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11877929 PASK PAS domain containing serine/threonine kinase gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1314594 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11877929 PASK PAS domain containing serine/threonine kinase gene DOID:1059 intellectual disability ISO RGD:1314594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11877929 PASK PAS domain containing serine/threonine kinase gene DOID:12849 autistic disorder ISO RGD:1314594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19365831 11877929 PASK PAS domain containing serine/threonine kinase gene DOID:630 genetic disease ISO RGD:1314594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11877929 PASK PAS domain containing serine/threonine kinase gene DOID:784 chronic kidney disease ISO RGD:1314594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868 11877929 PASK PAS domain containing serine/threonine kinase gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1314594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11877954 MC2R melanocortin 2 receptor gene DOID:0050562 West syndrome ISO RGD:1348934 D RGD:9068941 20200609 RGD DNA:snps:promoter:multiple (human) PMID:19024088|REF_RGD_ID:6484693 11877954 MC2R melanocortin 2 receptor gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1348934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11877954 MC2R melanocortin 2 receptor gene DOID:0080621 glucocorticoid deficiency 1 ISO RGD:1348934 D RGD:7240710 20180130 OMIM 11877954 MC2R melanocortin 2 receptor gene DOID:0080621 glucocorticoid deficiency 1 ISO RGD:1348934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glucocorticoid deficiency 1 PMID:10443676|PMID:12213892|PMID:14960026|PMID:16271481|PMID:17128565|PMID:17223989|PMID:18059087|PMID:18407210|PMID:18492762|PMID:18504396|PMID:18840636|PMID:19170705|PMID:19558534|PMID:21932602|PMID:25741868|PMID:26650942|PMID:28492532|PMID:34258490|PMID:7829641|PMID:8069303|PMID:8094489|PMID:8227361|PMID:8250922|PMID:8636348|PMID:9758716 11877954 MC2R melanocortin 2 receptor gene DOID:1059 intellectual disability ISO RGD:1348934 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11877954 MC2R melanocortin 2 receptor gene DOID:10763 hypertension ISO RGD:1348934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11082157 11877954 MC2R melanocortin 2 receptor gene DOID:14115 toxic shock syndrome ISO RGD:628649 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:2822467|REF_RGD_ID:6484558 11877954 MC2R melanocortin 2 receptor gene DOID:630 genetic disease ISO RGD:1348934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877954 MC2R melanocortin 2 receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11877954 MC2R melanocortin 2 receptor gene DOID:9004713 Acute-Phase Reaction ISO RGD:628649 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:22183812|REF_RGD_ID:6484138 11877954 MC2R melanocortin 2 receptor gene DOID:9005683 Metabolic Brain Diseases, Inborn ISO RGD:1348934 D RGD:9068941 20200609 RGD Familial glucocorticoid deficiency (ACTH resistance), OMIM:202200 PMID:12213892|REF_RGD_ID:1600747 11877954 MC2R melanocortin 2 receptor gene DOID:9005683 Metabolic Brain Diseases, Inborn ISO RGD:1348934 D RGD:9068941 20200609 RGD familial glucocorticoid deficiency (ACTJ resistance), OMIM:202200 PMID:8094489|REF_RGD_ID:1600745 11877954 MC2R melanocortin 2 receptor gene DOID:9007480 Hyperoxia ISO RGD:1553230 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:8110467|REF_RGD_ID:6484136 11877965 PARD3 par-3 family cell polarity regulator gene DOID:0060041 autism spectrum disorder ISO RGD:731593 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11877965 PARD3 par-3 family cell polarity regulator gene DOID:0080074 neural tube defect ISO RGD:731593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:27925688 11877965 PARD3 par-3 family cell polarity regulator gene DOID:10283 prostate cancer ISO RGD:731593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11877965 PARD3 par-3 family cell polarity regulator gene DOID:5426 primary ovarian insufficiency ISO RGD:731593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11877965 PARD3 par-3 family cell polarity regulator gene DOID:630 genetic disease ISO RGD:731593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11877965 PARD3 par-3 family cell polarity regulator gene DOID:9002304 Prostatic Neoplasms ISO RGD:731593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28319090 11878019 TSN translin gene DOID:630 genetic disease ISO RGD:1351634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878029 ASB14 ankyrin repeat and SOCS box containing 14 gene DOID:0060857 septooptic dysplasia ISO RGD:1343044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence PMID:28492532|PMID:32796691 11878029 ASB14 ankyrin repeat and SOCS box containing 14 gene DOID:0111111 maturity-onset diabetes of the young type 14 ISO RGD:1343044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 14 PMID:25741868|PMID:28492532 11878029 ASB14 ankyrin repeat and SOCS box containing 14 gene DOID:630 genetic disease ISO RGD:1343044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11878029 ASB14 ankyrin repeat and SOCS box containing 14 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1343044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 11878049 CCDC149 coiled-coil domain containing 149 gene DOID:630 genetic disease ISO RGD:1606995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878083 CRTC1 CREB regulated transcription coactivator 1 gene DOID:1470 major depressive disorder ISO RGD:1614777 D RGD:9068941 20220825 MouseDO OMIM:608520 | OMIM:608691 11878083 CRTC1 CREB regulated transcription coactivator 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1589158 D RGD:9068941 20200609 RGD PMID:20417695|REF_RGD_ID:4891138 11878083 CRTC1 CREB regulated transcription coactivator 1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1320323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121790 11878083 CRTC1 CREB regulated transcription coactivator 1 gene DOID:630 genetic disease ISO RGD:1320323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878083 CRTC1 CREB regulated transcription coactivator 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1320323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11878106 TMEM196 transmembrane protein 196 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11878106 TMEM196 transmembrane protein 196 gene DOID:630 genetic disease ISO RGD:1606932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878123 TUBB8 tubulin beta 8 class VIII gene DOID:630 genetic disease ISO RGD:1605531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878123 TUBB8 tubulin beta 8 class VIII gene DOID:9007456 Female Infertility ISO RGD:1605531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Female infertility PMID:25741868 11878123 TUBB8 tubulin beta 8 class VIII gene DOID:9008845 Oocyte Maturation Defect 2 ISO RGD:1605531 D RGD:7240710 20190315 OMIM 11878123 TUBB8 tubulin beta 8 class VIII gene DOID:9008845 Oocyte Maturation Defect 2 ISO RGD:1605531 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 2 PMID:25741868|PMID:26789871|PMID:27273344|PMID:32063091|PMID:32165824 11878131 SMCP sperm mitochondria associated cysteine rich protein gene DOID:0111940 immunodeficiency 42 ISO RGD:737432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11878131 SMCP sperm mitochondria associated cysteine rich protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:737432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11878131 SMCP sperm mitochondria associated cysteine rich protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:737432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11878131 SMCP sperm mitochondria associated cysteine rich protein gene DOID:1540 parathyroid carcinoma ISO RGD:737432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11878131 SMCP sperm mitochondria associated cysteine rich protein gene DOID:5812 MHC class II deficiency ISO RGD:737432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11878131 SMCP sperm mitochondria associated cysteine rich protein gene DOID:630 genetic disease ISO RGD:737432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878131 SMCP sperm mitochondria associated cysteine rich protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11878137 PITHD1 PITH domain containing 1 gene DOID:630 genetic disease ISO RGD:1603974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878137 PITHD1 PITH domain containing 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1603974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11878146 SFXN3 sideroflexin 3 gene DOID:630 genetic disease ISO RGD:1345797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878146 SFXN3 sideroflexin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11878162 SIGLEC12 sialic acid binding Ig like lectin 12 gene DOID:0080600 COVID-19 ISO RGD:1350480 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11878162 SIGLEC12 sialic acid binding Ig like lectin 12 gene DOID:630 genetic disease ISO RGD:1350480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878182 UGT2B4 UDP glucuronosyltransferase family 2 member B4 gene DOID:0060041 autism spectrum disorder ISO RGD:1344144 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11878182 UGT2B4 UDP glucuronosyltransferase family 2 member B4 gene DOID:630 genetic disease ISO RGD:1344144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878182 UGT2B4 UDP glucuronosyltransferase family 2 member B4 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1344144 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11878192 PCDH12 protocadherin 12 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348823 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11878192 PCDH12 protocadherin 12 gene DOID:0111510 Marshall syndrome ISO RGD:1348823 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Marshall syndrome PMID:25741868|PMID:28492532 11878192 PCDH12 protocadherin 12 gene DOID:630 genetic disease ISO RGD:1348823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28804758 11878192 PCDH12 protocadherin 12 gene DOID:7765 Coats disease ISO RGD:1348823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative retinopathy PMID:25741868|PMID:30459466 11878192 PCDH12 protocadherin 12 gene DOID:9002171 Diencephalic-Mesencephalic Junction Dysplasia Syndromes ISO RGD:1348823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia | ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome PMID:22822038|PMID:25741868|PMID:30178464 11878192 PCDH12 protocadherin 12 gene DOID:9002568 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 ISO RGD:1348823 D RGD:7240710 20191106 OMIM 11878192 PCDH12 protocadherin 12 gene DOID:9002568 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 ISO RGD:1348823 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 1 PMID:22822038|PMID:25741868|PMID:27164683|PMID:28492532|PMID:29556033|PMID:30178464|PMID:33527719|PMID:7774041 11878192 PCDH12 protocadherin 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 11878192 PCDH12 protocadherin 12 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348823 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11878200 RPUSD2 RNA pseudouridine synthase domain containing 2 gene DOID:2717 Bloom syndrome ISO RGD:1343031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11878200 RPUSD2 RNA pseudouridine synthase domain containing 2 gene DOID:630 genetic disease ISO RGD:1343031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878200 RPUSD2 RNA pseudouridine synthase domain containing 2 gene DOID:9256 colorectal cancer ISO RGD:1343031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 11878207 CTNND2 catenin delta 2 gene DOID:1324 lung cancer ISO RGD:1353744 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 11878207 CTNND2 catenin delta 2 gene DOID:1470 major depressive disorder susceptibility ISO RGD:1353744 D RGD:9068941 20201218 RGD DNA:polymorphism:multiple (human) PMID:24256404|REF_RGD_ID:40902831 11878207 CTNND2 catenin delta 2 gene DOID:2030 anxiety disorder susceptibility ISO RGD:1353744 D RGD:9068941 20201218 RGD DNA:polymorphism:multiple (human) PMID:24256404|REF_RGD_ID:40902831 11878207 CTNND2 catenin delta 2 gene DOID:3068 glioblastoma ISO RGD:1353744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23917401 11878207 CTNND2 catenin delta 2 gene DOID:5419 schizophrenia ISO RGD:1353744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11878207 CTNND2 catenin delta 2 gene DOID:5419 schizophrenia susceptibility ISO RGD:1353744 D RGD:9068941 20201218 RGD DNA:polymorphism:multiple (human) PMID:24256404|REF_RGD_ID:40902831 11878207 CTNND2 catenin delta 2 gene DOID:630 genetic disease ISO RGD:1353744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12835311|PMID:15733271|PMID:25106414|PMID:25473103|PMID:25741868|PMID:25807484|PMID:25839933|PMID:26601658|PMID:29127138 11878207 CTNND2 catenin delta 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353744 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11878207 CTNND2 catenin delta 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1353744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23917401 11878229 PLEKHM3 pleckstrin homology domain containing M3 gene DOID:14557 primary pulmonary hypertension ISO RGD:2292191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11878229 PLEKHM3 pleckstrin homology domain containing M3 gene DOID:630 genetic disease ISO RGD:2292191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878229 PLEKHM3 pleckstrin homology domain containing M3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2292191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11878248 TFAP2C transcription factor AP-2 gamma gene DOID:10907 microcephaly ISO RGD:1346626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11878248 TFAP2C transcription factor AP-2 gamma gene DOID:630 genetic disease ISO RGD:1346626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878248 TFAP2C transcription factor AP-2 gamma gene DOID:9000217 Stomach Neoplasms ISO RGD:1346626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11878262 ESRRB estrogen related receptor beta gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1342767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness PMID:23967202|PMID:24033266|PMID:30303587|PMID:33524517 11878262 ESRRB estrogen related receptor beta gene DOID:0110493 autosomal recessive nonsyndromic deafness 35 ISO RGD:1342767 D RGD:7240710 20180509 OMIM 11878262 ESRRB estrogen related receptor beta gene DOID:0110493 autosomal recessive nonsyndromic deafness 35 ISO RGD:1342767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 35 PMID:12529709|PMID:18179891|PMID:22951369|PMID:23767834|PMID:24033266|PMID:25342930|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29636544|PMID:30828346|PMID:31389194 11878262 ESRRB estrogen related receptor beta gene DOID:1059 intellectual disability ISO RGD:1342767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11878262 ESRRB estrogen related receptor beta gene DOID:12930 dilated cardiomyopathy ISO RGD:1621573 D RGD:9068941 20220825 MouseDO 11878262 ESRRB estrogen related receptor beta gene DOID:5426 primary ovarian insufficiency ISO RGD:1342767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 11878262 ESRRB estrogen related receptor beta gene DOID:630 genetic disease ISO RGD:1342767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:30311386 11878262 ESRRB estrogen related receptor beta gene DOID:9004538 Hearing Loss ISO RGD:1342767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:23967202|PMID:24033266|PMID:28492532|PMID:30303587|PMID:30311386|PMID:33524517 11878271 APOL2 apolipoprotein L2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1320008 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11878271 APOL2 apolipoprotein L2 gene DOID:5062 phencyclidine abuse ISO RGD:1320008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 11878271 APOL2 apolipoprotein L2 gene DOID:5419 schizophrenia ISO RGD:1320008 D RGD:7240710 20180130 OMIM 11878271 APOL2 apolipoprotein L2 gene DOID:630 genetic disease ISO RGD:1320008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878271 APOL2 apolipoprotein L2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1320008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 11878271 APOL2 apolipoprotein L2 gene DOID:9505 cannabis abuse ISO RGD:1320008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 11878289 LNP1 leukemia NUP98 fusion partner 1 gene DOID:630 genetic disease ISO RGD:2291790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878289 LNP1 leukemia NUP98 fusion partner 1 gene DOID:9009221 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM ISO RGD:2291790 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 11878311 REN renin gene DOID:0050477 Liddle syndrome ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12185466 11878311 REN renin gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:736366 D RGD:9068941 20210402 RGD protein:increased expression:blood serum (human) PMID:31505456|REF_RGD_ID:125097501 11878311 REN renin gene DOID:0060001 withdrawal disorder ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28415 11878311 REN renin gene DOID:0060180 colitis treatment ISO RGD:1332384 D RGD:9068941 20210402 RGD PMID:24858618|REF_RGD_ID:125097500 11878311 REN renin gene DOID:0060224 atrial fibrillation ISO RGD:736366 D RGD:9068941 20200609 RGD associated with Rheumatic Heart Disease; protein:increased activity:plasma (human) PMID:21911268|REF_RGD_ID:6892701 11878311 REN renin gene DOID:0080827 human cytomegalovirus infection ISO RGD:736366 D RGD:9068941 20210402 RGD protein:decreased expression:blood plasma (human) PMID:29752343|REF_RGD_ID:40400905 11878311 REN renin gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:736366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11878311 REN renin gene DOID:1074 kidney failure ISO RGD:1332384 D RGD:9068941 20210402 RGD PMID:28533331|REF_RGD_ID:39939034 11878311 REN renin gene DOID:10762 portal hypertension ISO RGD:736366 D RGD:9068941 20200609 RGD PMID:12854169|REF_RGD_ID:1580698 11878311 REN renin gene DOID:10763 hypertension ISO RGD:1332384 D RGD:9068941 20200609 RGD PMID:22681982|REF_RGD_ID:6784501 11878311 REN renin gene DOID:10763 hypertension ISO RGD:1332384 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (mouse) PMID:22493079|REF_RGD_ID:6892655 11878311 REN renin gene DOID:10763 hypertension ISO RGD:3554 D RGD:9068941 20200609 RGD PMID:16467505|REF_RGD_ID:1580671 11878311 REN renin gene DOID:10763 hypertension ISO RGD:736366 D RGD:9068941 20200609 RGD PMID:16138564|REF_RGD_ID:1580697 11878311 REN renin gene DOID:10763 hypertension ISO RGD:736366 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:1071603|PMID:1149188|PMID:11501062|PMID:12414515|PMID:12600921|PMID:17537837|PMID:18679781|PMID:18847324|PMID:19770776|PMID:19934029|PMID:20429690|PMID:20811386|PMID:21393355|PMID:45830|PMID:62162|PMID:6381767|PMID:7721401|PMID:998518 11878311 REN renin gene DOID:10824 malignant hypertension ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2493837 11878311 REN renin gene DOID:10825 essential hypertension ISO RGD:736366 D RGD:9068941 20210402 RGD PMID:1152295|REF_RGD_ID:125097505 11878311 REN renin gene DOID:10881 hand, foot and mouth disease treatment ISO RGD:736366 D RGD:9068941 20210625 RGD PMID:31638922|REF_RGD_ID:127285374 11878311 REN renin gene DOID:11476 osteoporosis ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18847324 11878311 REN renin gene DOID:1184 nephrotic syndrome ISO RGD:736366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 11878311 REN renin gene DOID:12236 primary biliary cholangitis ISO RGD:3554 D RGD:9068941 20200609 RGD protein:increased activity:plasma (rat) PMID:22266601|REF_RGD_ID:6892690 11878311 REN renin gene DOID:12849 autistic disorder ISO RGD:736366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11878311 REN renin gene DOID:14115 toxic shock syndrome exacerbates ISO RGD:736366 D RGD:9068941 20210402 RGD protein:increased activity:blood plasma (human) PMID:31723628|REF_RGD_ID:125097502 11878311 REN renin gene DOID:1540 parathyroid carcinoma ISO RGD:736366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11878311 REN renin gene DOID:1591 renovascular hypertension ISO RGD:1332384 D RGD:9068941 20200609 RGD mRNA:increased expression:renal cortex (mouse) PMID:22378822|REF_RGD_ID:6892688 11878311 REN renin gene DOID:1591 renovascular hypertension ISO RGD:736366 D RGD:9068941 20210402 RGD protein:increased activity:blood plasma (human) PMID:2240003|REF_RGD_ID:125097504 11878311 REN renin gene DOID:1596 depressive disorder ISO RGD:736366 D RGD:9068941 20210402 RGD Associated with hypertension;protein:decreased activity:blood (human) PMID:29960014|REF_RGD_ID:125097507 11878311 REN renin gene DOID:2355 anemia ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3524928 11878311 REN renin gene DOID:2527 nephrosis ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2046802|PMID:6358456 11878311 REN renin gene DOID:3021 acute kidney failure exacerbates ISO RGD:736366 D RGD:9068941 20210402 RGD Associated with toxic shock syndrome;protein:increased expression:blood plasma (human) PMID:30407370|REF_RGD_ID:125097506 11878311 REN renin gene DOID:326 ischemia ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3915608 11878311 REN renin gene DOID:3388 periodontal disease treatment ISO RGD:1332384 D RGD:9068941 20210402 RGD Associated with Diabetes Mellitus, experimental PMID:31333451|REF_RGD_ID:125097482 11878311 REN renin gene DOID:445 Bartter disease ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15976003|PMID:3519017|PMID:929154 11878311 REN renin gene DOID:446 primary hyperaldosteronism ISO RGD:736366 D RGD:9068941 20210514 RGD protein:increased activity:blood plasma (human) PMID:15080782|REF_RGD_ID:126908012 11878311 REN renin gene DOID:5082 liver cirrhosis ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15613622 11878311 REN renin gene DOID:557 kidney disease ISO RGD:736366 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 11878311 REN renin gene DOID:576 proteinuria ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2046802|PMID:464098 11878311 REN renin gene DOID:5844 myocardial infarction ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1668233 11878311 REN renin gene DOID:5844 myocardial infarction susceptibility ISO RGD:736366 D RGD:9068941 20200609 RGD associated with Hypertension; protein:increased activity:plasma (human) PMID:1759997|REF_RGD_ID:6892687 11878311 REN renin gene DOID:6000 congestive heart failure ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1647690|PMID:20811386|PMID:7034517 11878311 REN renin gene DOID:6000 congestive heart failure exacerbates ISO RGD:736366 D RGD:9068941 20210514 RGD protein:increased activity:blood plasma (human) PMID:17526990|REF_RGD_ID:126908011 11878311 REN renin gene DOID:630 genetic disease ISO RGD:736366 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21473025|PMID:25741868|PMID:28492532 11878311 REN renin gene DOID:687 hepatoblastoma ISO RGD:736366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 11878311 REN renin gene DOID:8544 chronic fatigue syndrome ISO RGD:736366 D RGD:9068941 20200609 RGD associated with Postural Orthostatic Tachycardia Syndrome; protein:increased activity:plasma (human) PMID:21906029|REF_RGD_ID:6892702 11878311 REN renin gene DOID:8893 psoriasis ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3540694 11878311 REN renin gene DOID:9000445 Azotemia ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6338847 11878311 REN renin gene DOID:9000784 Fibrosis ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12414515 11878311 REN renin gene DOID:9001542 Albuminuria ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12414515|PMID:18679781 11878311 REN renin gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:3554 D RGD:9068941 20200609 RGD PMID:24709336|REF_RGD_ID:11039406 11878311 REN renin gene DOID:9001827 Critical Illness exacerbates ISO RGD:736366 D RGD:9068941 20210402 RGD protein:increased activity:blood plasma (human) PMID:30653055|REF_RGD_ID:125097479 11878311 REN renin gene DOID:9002165 Diabetic Nephropathies ISO RGD:3554 D RGD:9068941 20200609 RGD PMID:15489960|REF_RGD_ID:1579795 11878311 REN renin gene DOID:9002231 Fetal Growth Retardation ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17537837 11878311 REN renin gene DOID:9003936 Cardiomegaly ISO RGD:1332384 D RGD:9068941 20200609 RGD mRNA:increased expression:heart, kidney (mouse) PMID:15367398|REF_RGD_ID:6771378 11878311 REN renin gene DOID:9003936 Cardiomegaly ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20429690|PMID:20811386 11878311 REN renin gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736366 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11878311 REN renin gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3554 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (rat) PMID:22796710|REF_RGD_ID:6771379 11878311 REN renin gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18679781|PMID:8349331 11878311 REN renin gene DOID:9005373 Autosomal Dominant Tubulointerstitial Kidney Disease 4 ISO RGD:736366 D RGD:7240710 20180130 OMIM 11878311 REN renin gene DOID:9005373 Autosomal Dominant Tubulointerstitial Kidney Disease 4 ISO RGD:736366 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: EARLY-ONSET HYPERURICEMIA, ANEMIA, AND PROGRESSIVE KIDNEY FAILURE | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4 PMID:16116425|PMID:19664745|PMID:21084044|PMID:21473025|PMID:22095942|PMID:25741868|PMID:28492532|PMID:32750457|PMID:33532864 11878311 REN renin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18829990 11878311 REN renin gene DOID:9005721 Preeclamptic Toxemia ISO RGD:736366 D RGD:9068941 20210402 RGD protein:increased activity:blood plasma (human) PMID:683663|REF_RGD_ID:125097480 11878311 REN renin gene DOID:9005930 Endotoxemia ISO RGD:1332384 D RGD:9068941 20210402 RGD protein:increased activity:blood plasma (mouse) PMID:30027346|REF_RGD_ID:125097481 11878311 REN renin gene DOID:9005930 Endotoxemia ISO RGD:3554 D RGD:9068941 20210402 RGD protein:increased activity:blood plasma (rat) PMID:16512638|REF_RGD_ID:125097499 11878311 REN renin gene DOID:9006024 Hypotension ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11171655|PMID:3536153|PMID:6251761 11878311 REN renin gene DOID:9006137 Renal Tubular Dysgenesis ISO RGD:736366 D RGD:7240710 20180130 OMIM 11878311 REN renin gene DOID:9006137 Renal Tubular Dysgenesis ISO RGD:736366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal tubular dysgenesis | ClinVar Annotator: match by term: Renal tubular dysgenesis of genetic origin PMID:16116425|PMID:17443344|PMID:21036942|PMID:22095942|PMID:25741868|PMID:28492532|PMID:32750457|PMID:33532864 11878311 REN renin gene DOID:9006635 Hyponatremia ISO RGD:3554 D RGD:9068941 20210402 RGD protein: increased activity:blood plasma (rat) PMID:25841323|REF_RGD_ID:125097503 11878311 REN renin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8723173 11878311 REN renin gene DOID:9006832 Puromycin Aminonucleoside Nephrosis ISO RGD:3554 D RGD:9068941 20200609 RGD PMID:8446257|REF_RGD_ID:11039400 11878311 REN renin gene DOID:9008217 Hemorrhage ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6991409 11878311 REN renin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11878311 REN renin gene DOID:9970 obesity ISO RGD:736366 D RGD:9068941 20200609 RGD mRNA:increased expression:abdomen, subcutaneous adipose tissue, mesenchymal stem cell (human) PMID:22648117|REF_RGD_ID:6784503 11878325 EPN3 epsin 3 gene DOID:630 genetic disease ISO RGD:1315016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878325 EPN3 epsin 3 gene DOID:9775 diastolic heart failure ISO RGD:1315016 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 11878339 NLRP2 NLR family pyrin domain containing 2 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1344725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 11878339 NLRP2 NLR family pyrin domain containing 2 gene DOID:630 genetic disease ISO RGD:1344725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878339 NLRP2 NLR family pyrin domain containing 2 gene DOID:9008905 Oocyte/Zygote/Embryo Maturation Arrest 18 ISO RGD:1344725 D RGD:7240710 20230505 OMIM 11878339 NLRP2 NLR family pyrin domain containing 2 gene DOID:9008905 Oocyte/Zygote/Embryo Maturation Arrest 18 ISO RGD:1344725 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 18 PMID:30877238 11878355 ATP5MC3 ATP synthase membrane subunit c locus 3 gene DOID:0080600 COVID-19 ISO RGD:734314 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11878355 ATP5MC3 ATP synthase membrane subunit c locus 3 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:734314 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11878355 ATP5MC3 ATP synthase membrane subunit c locus 3 gene DOID:630 genetic disease ISO RGD:734314 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878355 ATP5MC3 ATP synthase membrane subunit c locus 3 gene DOID:9000491 DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA ISO RGD:734314 D RGD:7240710 20220112 OMIM 11878355 ATP5MC3 ATP synthase membrane subunit c locus 3 gene DOID:9000491 DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA ISO RGD:734314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia, early-onset, and/or spastic paraplegia PMID:19006192|PMID:34636445 11878364 LOC100985834 olfactory receptor 6Q1 gene DOID:1059 intellectual disability ISO RGD:1352757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11878364 LOC100985834 olfactory receptor 6Q1 gene DOID:630 genetic disease ISO RGD:1352757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878369 SUMF1 sulfatase modifying factor 1 gene DOID:0050441 mucosulfatidosis ISO RGD:1553352 D RGD:9068941 20220825 MouseDO OMIM:272200 11878369 SUMF1 sulfatase modifying factor 1 gene DOID:1927 sphingolipidosis ISO RGD:1320552 D RGD:9068941 20200609 RGD Multiple Sulfatase Deficiency Disease PMID:12757705|REF_RGD_ID:1599192 11878383 ADGRB1 adhesion G protein-coupled receptor B1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1313737 D RGD:9068941 20200609 RGD PMID:11172604|REF_RGD_ID:13831357 11878383 ADGRB1 adhesion G protein-coupled receptor B1 gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1313737 D RGD:9068941 20200609 RGD PMID:25376607|REF_RGD_ID:13831358 11878383 ADGRB1 adhesion G protein-coupled receptor B1 gene DOID:3068 glioblastoma ISO RGD:1313737 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain: PMID:12507886|REF_RGD_ID:13831355 11878383 ADGRB1 adhesion G protein-coupled receptor B1 gene DOID:3068 glioblastoma treatment ISO RGD:1313737 D RGD:9068941 20200609 RGD PMID:16244591|REF_RGD_ID:13831352 11878383 ADGRB1 adhesion G protein-coupled receptor B1 gene DOID:3069 malignant astrocytoma severity ISO RGD:1313737 D RGD:9068941 20200609 RGD PMID:23761815|REF_RGD_ID:13831356 11878383 ADGRB1 adhesion G protein-coupled receptor B1 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1313737 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreas PMID:11875720|REF_RGD_ID:13831350 11878383 ADGRB1 adhesion G protein-coupled receptor B1 gene DOID:4450 renal cell carcinoma severity ISO RGD:1313737 D RGD:9068941 20200609 RGD PMID:21511296|REF_RGD_ID:13831349 11878383 ADGRB1 adhesion G protein-coupled receptor B1 gene DOID:630 genetic disease ISO RGD:1313737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878383 ADGRB1 adhesion G protein-coupled receptor B1 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1313737 D RGD:9068941 20200609 RGD associated with stomach cancer; PMID:11172604|REF_RGD_ID:13831357 11878383 ADGRB1 adhesion G protein-coupled receptor B1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313737 D RGD:9068941 20200609 RGD associated with colorectal cancer PMID:9772287|REF_RGD_ID:13831353 11878383 ADGRB1 adhesion G protein-coupled receptor B1 gene DOID:9256 colorectal cancer ISO RGD:1313737 D RGD:9068941 20200609 RGD mRNA:decreased expression:colorectum PMID:9772287|REF_RGD_ID:13831353 11878405 AIP aryl hydrocarbon receptor interacting protein gene DOID:0112009 pituitary adenoma 1 ISO RGD:1354071 D RGD:7240710 20200826 OMIM 11878405 AIP aryl hydrocarbon receptor interacting protein gene DOID:0112009 pituitary adenoma 1 ISO RGD:1354071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PITUITARY ADENOMA 1, MULTIPLE TYPES PMID:16728643|PMID:17341560|PMID:17360484|PMID:18381572|PMID:19366855|PMID:20506337|PMID:20530095|PMID:21454441|PMID:21753072|PMID:22319033|PMID:22720333|PMID:23300914|PMID:23321498|PMID:23633209|PMID:24033266|PMID:25093619|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25741868|PMID:27153395|PMID:28492532|PMID:29074612|PMID:30461320|PMID:32324286 11878405 AIP aryl hydrocarbon receptor interacting protein gene DOID:1059 intellectual disability ISO RGD:1354071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11878405 AIP aryl hydrocarbon receptor interacting protein gene DOID:3946 pituitary-dependent Cushing's disease ISO RGD:1354071 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pituitary dependent hypercortisolism PMID:17360484|PMID:18381572|PMID:19366855|PMID:20506337|PMID:20530095|PMID:21454441|PMID:21753072|PMID:22319033|PMID:22720333|PMID:23300914|PMID:23321498|PMID:23633209|PMID:24033266|PMID:24050928|PMID:25093619|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25741868|PMID:27153395|PMID:28492532|PMID:29074612|PMID:30461320|PMID:32324286 11878405 AIP aryl hydrocarbon receptor interacting protein gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:1354071 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Somatotroph adenoma PMID:12213383|PMID:12810716|PMID:16728643|PMID:17242703|PMID:17244780|PMID:17299063|PMID:17341560|PMID:17360484|PMID:17371465|PMID:17576681|PMID:17609395|PMID:18381572|PMID:18410548|PMID:18484068|PMID:19366855|PMID:19474519|PMID:19556287|PMID:19684062|PMID:19955762|PMID:20354355|PMID:20457215|PMID:20506337|PMID:20507346|PMID:20530095|PMID:20570174|PMID:20595802|PMID:20685857|PMID:21208107|PMID:21340166|PMID:21348957|PMID:21454441|PMID:21512261|PMID:21753072|PMID:21984905|PMID:2200621|PMID:22287093|PMID:22319033|PMID:22720333|PMID:22915287|PMID:23038625|PMID:23038925|PMID:23300914|PMID:23321498|PMID:23371967|PMID:23633209|PMID:23743763|PMID:24033266|PMID:24050928|PMID:24078436|PMID:24423289|PMID:24789813|PMID:25019383|PMID:25093619|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25350067|PMID:25614825|PMID:25741868|PMID:26186299|PMID:26792934|PMID:27033541|PMID:27153395|PMID:27253664|PMID:27267386|PMID:27650164|PMID:28220018|PMID:28255869|PMID:28427099|PMID:28492532|PMID:28634279|PMID:29036195|PMID:29074612|PMID:29308445|PMID:29455389|PMID:29507682|PMID:29632148|PMID:29729370|PMID:30262796|PMID:30461320|PMID:30822274|PMID:30941100|PMID:32324286|PMID:34588620|PMID:35586626|PMID:5320367|PMID:9482716|PMID:9536098 11878405 AIP aryl hydrocarbon receptor interacting protein gene DOID:630 genetic disease ISO RGD:1354071 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878405 AIP aryl hydrocarbon receptor interacting protein gene DOID:657 adenoma ISO RGD:1354071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22975028 11878405 AIP aryl hydrocarbon receptor interacting protein gene DOID:7004 ACTH-secreting pituitary adenoma ISO RGD:1354071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PITUITARY ADENOMA 4, ACTH-SECRETING PMID:17360484|PMID:18381572|PMID:19366855|PMID:20506337|PMID:20530095|PMID:21454441|PMID:21753072|PMID:22319033|PMID:22720333|PMID:23300914|PMID:23321498|PMID:23633209|PMID:24033266|PMID:25093619|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25741868|PMID:27153395|PMID:28492532|PMID:29074612|PMID:30461320|PMID:32324286 11878405 AIP aryl hydrocarbon receptor interacting protein gene DOID:9001520 Symmetric Acroleukopathy ISO RGD:1354071 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acroleukopathy, symmetric PMID:22319033|PMID:23038625|PMID:25741868|PMID:26792934|PMID:27253664|PMID:28255869|PMID:28492532|PMID:29036195 11878405 AIP aryl hydrocarbon receptor interacting protein gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1354071 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11878405 AIP aryl hydrocarbon receptor interacting protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12213383|PMID:16728643|PMID:17242703|PMID:17244780|PMID:17360484|PMID:17371465|PMID:17576681|PMID:17609395|PMID:18381572|PMID:18484068|PMID:19366855|PMID:19474519|PMID:19556287|PMID:19684062|PMID:19955762|PMID:20354355|PMID:20457215|PMID:20506337|PMID:20507346|PMID:20530095|PMID:20595802|PMID:20833337|PMID:21208107|PMID:21340166|PMID:21348957|PMID:21454441|PMID:21512261|PMID:21753072|PMID:21984905|PMID:2200621|PMID:22287093|PMID:22319033|PMID:22720333|PMID:22915287|PMID:23038625|PMID:23038925|PMID:23300914|PMID:23321498|PMID:23371967|PMID:23633209|PMID:23743763|PMID:24033266|PMID:24050928|PMID:24078436|PMID:24423289|PMID:25019383|PMID:25093619|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25350067|PMID:25614825|PMID:25741868|PMID:26186299|PMID:26792934|PMID:27033541|PMID:27153395|PMID:27253664|PMID:27267386|PMID:27650164|PMID:28166811|PMID:28220018|PMID:28255869|PMID:28427099|PMID:28492532|PMID:28634279|PMID:29036195|PMID:29074612|PMID:29308445|PMID:29440248|PMID:29632148|PMID:29729370|PMID:30262796|PMID:30461320|PMID:32324286|PMID:5320367|PMID:9536098 11878405 AIP aryl hydrocarbon receptor interacting protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354071 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12213383|PMID:16728643|PMID:17242703|PMID:17244780|PMID:17360484|PMID:17371465|PMID:17576681|PMID:17609395|PMID:18381572|PMID:18484068|PMID:19366855|PMID:19474519|PMID:19556287|PMID:19684062|PMID:19955762|PMID:20354355|PMID:20457215|PMID:20506337|PMID:20507346|PMID:20530095|PMID:20595802|PMID:20833337|PMID:21208107|PMID:21340166|PMID:21348957|PMID:21454441|PMID:21512261|PMID:21753072|PMID:21984905|PMID:2200621|PMID:22287093|PMID:22319033|PMID:22720333|PMID:22915287|PMID:23038625|PMID:23038925|PMID:23300914|PMID:23321498|PMID:23371967|PMID:23633209|PMID:23743763|PMID:24033266|PMID:24050928|PMID:24078436|PMID:24423289|PMID:25019383|PMID:25093619|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25350067|PMID:25614825|PMID:25741868|PMID:26186299|PMID:26792934|PMID:27033541|PMID:27153395|PMID:27253664|PMID:27267386|PMID:27650164|PMID:28220018|PMID:28255869|PMID:28427099|PMID:28492532|PMID:28634279|PMID:29036195|PMID:29074612|PMID:29308445|PMID:29440248|PMID:29632148|PMID:29729370|PMID:30262796|PMID:30461320|PMID:32324286|PMID:5320367|PMID:9536098 11878405 AIP aryl hydrocarbon receptor interacting protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354071 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12213383|PMID:12810716|PMID:16728643|PMID:17242703|PMID:17244780|PMID:17360484|PMID:17371465|PMID:17576681|PMID:17609395|PMID:18381572|PMID:18410548|PMID:18484068|PMID:19366855|PMID:19474519|PMID:19556287|PMID:19684062|PMID:19955762|PMID:20354355|PMID:20457215|PMID:20506337|PMID:20507346|PMID:20530095|PMID:20595802|PMID:21208107|PMID:21340166|PMID:21348957|PMID:21454441|PMID:21512261|PMID:21753072|PMID:21984905|PMID:2200621|PMID:22287093|PMID:22319033|PMID:22720333|PMID:22915287|PMID:23038625|PMID:23038925|PMID:23300914|PMID:23321498|PMID:23371967|PMID:23633209|PMID:23743763|PMID:24033266|PMID:24050928|PMID:24078436|PMID:24423289|PMID:24789813|PMID:25019383|PMID:25093619|PMID:25136448|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25350067|PMID:25614825|PMID:25741868|PMID:26186299|PMID:26792934|PMID:27033541|PMID:27153395|PMID:27253664|PMID:27267386|PMID:27650164|PMID:28220018|PMID:28255869|PMID:28427099|PMID:28492532|PMID:28634279|PMID:29036195|PMID:29074612|PMID:29308445|PMID:29440248|PMID:29455389|PMID:29507682|PMID:29632148|PMID:29729370|PMID:30262796|PMID:30461320|PMID:30822274|PMID:30941100|PMID:32324286|PMID:33029249|PMID:35586626|PMID:5320367|PMID:9482716|PMID:9536098 11878405 AIP aryl hydrocarbon receptor interacting protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12213383|PMID:12810716|PMID:16199547|PMID:16728643|PMID:17242703|PMID:17244780|PMID:17360484|PMID:17371465|PMID:17576681|PMID:17609395|PMID:18381572|PMID:18410548|PMID:18484068|PMID:19366855|PMID:19474519|PMID:19556287|PMID:19684062|PMID:19955762|PMID:20354355|PMID:20457215|PMID:20506337|PMID:20507346|PMID:20530095|PMID:20595802|PMID:21208107|PMID:21340166|PMID:21348957|PMID:21454441|PMID:21512261|PMID:21753072|PMID:21984905|PMID:2200621|PMID:22287093|PMID:22319033|PMID:22720333|PMID:22915287|PMID:23038625|PMID:23038925|PMID:23300914|PMID:23321498|PMID:23371967|PMID:23633209|PMID:23743763|PMID:24033266|PMID:24050928|PMID:24078436|PMID:24423289|PMID:24789813|PMID:25019383|PMID:25093619|PMID:25136448|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25350067|PMID:25614825|PMID:25741868|PMID:26186299|PMID:26792934|PMID:27033541|PMID:27153395|PMID:27253664|PMID:27267386|PMID:27650164|PMID:28220018|PMID:28255869|PMID:28427099|PMID:28492532|PMID:28634279|PMID:29036195|PMID:29074612|PMID:29308445|PMID:29440248|PMID:29455389|PMID:29507682|PMID:29632148|PMID:29729370|PMID:30262796|PMID:30461320|PMID:30822274|PMID:30941100|PMID:32324286|PMID:32621582|PMID:33029249|PMID:34588620|PMID:35586626|PMID:5320367|PMID:9482716|PMID:9536098 11878405 AIP aryl hydrocarbon receptor interacting protein gene DOID:9007671 Familial Isolated Pituitary Adenoma ISO RGD:1354071 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Familial isolated pituitary adenoma PMID:16728643|PMID:17242703|PMID:17244780|PMID:17609395|PMID:18484068|PMID:19474519|PMID:20506337|PMID:21348957|PMID:21753072|PMID:22319033|PMID:22720333|PMID:22915287|PMID:24050928|PMID:25184284|PMID:25614825|PMID:25741868|PMID:26186299|PMID:26792934|PMID:28255869|PMID:28492532|PMID:29074612 11878405 AIP aryl hydrocarbon receptor interacting protein gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1354071 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11878426 RAD21L1 RAD21 cohesin complex component like 1 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1348792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 11878426 RAD21L1 RAD21 cohesin complex component like 1 gene DOID:630 genetic disease ISO RGD:1348792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878443 NEDD9 neural precursor cell expressed, developmentally down-regulated 9 gene DOID:2377 multiple sclerosis ISO RGD:1314803 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 11878443 NEDD9 neural precursor cell expressed, developmentally down-regulated 9 gene DOID:630 genetic disease ISO RGD:1314803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878457 INPP4B inositol polyphosphate-4-phosphatase type II B gene DOID:11054 urinary bladder cancer ISO RGD:734292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29415082 11878457 INPP4B inositol polyphosphate-4-phosphatase type II B gene DOID:4450 renal cell carcinoma ISO RGD:734292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29415082 11878457 INPP4B inositol polyphosphate-4-phosphatase type II B gene DOID:4905 pancreatic carcinoma ISO RGD:734292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29415082 11878457 INPP4B inositol polyphosphate-4-phosphatase type II B gene DOID:630 genetic disease ISO RGD:734292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878457 INPP4B inositol polyphosphate-4-phosphatase type II B gene DOID:684 hepatocellular carcinoma ISO RGD:734292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29415082 11878457 INPP4B inositol polyphosphate-4-phosphatase type II B gene DOID:9119 acute myeloid leukemia ISO RGD:734292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29415082 11878498 LOC100990811 fucose-1-phosphate guanylyltransferase gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1345235 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 PMID:25741868 11878498 LOC100990811 fucose-1-phosphate guanylyltransferase gene DOID:12930 dilated cardiomyopathy ISO RGD:1345235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 11878498 LOC100990811 fucose-1-phosphate guanylyltransferase gene DOID:630 genetic disease ISO RGD:1345235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11878498 LOC100990811 fucose-1-phosphate guanylyltransferase gene DOID:9000652 Cardiac Conduction Disease with or without Dilated Cardiomyopathy ISO RGD:1345235 D RGD:7240710 20200610 OMIM 11878498 LOC100990811 fucose-1-phosphate guanylyltransferase gene DOID:9000652 Cardiac Conduction Disease with or without Dilated Cardiomyopathy ISO RGD:1345235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy PMID:24925317|PMID:25741868|PMID:25791106|PMID:28492532|PMID:29355681|PMID:30010057|PMID:31589606|PMID:34203974 11878530 GFRAL GDNF family receptor alpha like gene DOID:630 genetic disease ISO RGD:1604920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878544 GNG12 G protein subunit gamma 12 gene DOID:1059 intellectual disability ISO RGD:1319444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11878550 MKS1 MKS transition zone complex subunit 1 gene DOID:0050651 atrioventricular septal defect ISO RGD:1614795 D RGD:9068941 20220825 MouseDO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 11878550 MKS1 MKS transition zone complex subunit 1 gene DOID:0050777 Joubert syndrome ISO RGD:1352123 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29620724|PMID:30076350|PMID:30718709|PMID:31191208|PMID:31456290|PMID:33584783|PMID:34008892|PMID:9536098 11878550 MKS1 MKS transition zone complex subunit 1 gene DOID:0050777 Joubert syndrome ISO RGD:1352123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23169490|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30076350|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34359301|PMID:34582790|PMID:9536098 11878550 MKS1 MKS transition zone complex subunit 1 gene DOID:0050778 Meckel syndrome ISO RGD:1352123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:18414213|PMID:19466712|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:28492532|PMID:28497568|PMID:30902645|PMID:34008892|PMID:9536098 11878550 MKS1 MKS transition zone complex subunit 1 gene DOID:0050952 spastic ataxia ISO RGD:1352123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 11878550 MKS1 MKS transition zone complex subunit 1 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1352123 D RGD:7240710 20180130 OMIM 11878550 MKS1 MKS transition zone complex subunit 1 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1352123 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21258341|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29620724|PMID:30076350|PMID:30718709|PMID:31191208|PMID:33584783|PMID:34008892|PMID:9536098 11878550 MKS1 MKS transition zone complex subunit 1 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1352123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:23169490|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30076350|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:33584783|PMID:34008892|PMID:34359301|PMID:34582790|PMID:9536098 11878550 MKS1 MKS transition zone complex subunit 1 gene DOID:0080322 polycystic kidney disease ISO RGD:1352123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:25741868 11878550 MKS1 MKS transition zone complex subunit 1 gene DOID:0110135 Bardet-Biedl syndrome 13 ISO RGD:1352123 D RGD:7240710 20180130 OMIM 11878550 MKS1 MKS transition zone complex subunit 1 gene DOID:0110135 Bardet-Biedl syndrome 13 ISO RGD:1352123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 13 PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27353947|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:28981474|PMID:30076350|PMID:30718709|PMID:31456290|PMID:33584783|PMID:34008892|PMID:34359301|PMID:34582790|PMID:9536098 11878550 MKS1 MKS transition zone complex subunit 1 gene DOID:0110329 Leber congenital amaurosis 6 ISO RGD:1352123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 6 PMID:17397051|PMID:17576681|PMID:25741868|PMID:28492532|PMID:31191208|PMID:9536098 11878550 MKS1 MKS transition zone complex subunit 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1352123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:25966130|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29620724|PMID:30076350|PMID:30718709|PMID:31191208|PMID:33584783|PMID:34008892|PMID:9536098 11878550 MKS1 MKS transition zone complex subunit 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1352123 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:17185389|PMID:17397051|PMID:19466712|PMID:23351400|PMID:24886560|PMID:25741868|PMID:26490104|PMID:28492532|PMID:34008892 11878550 MKS1 MKS transition zone complex subunit 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1352123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23169490|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30076350|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34359301|PMID:34582790|PMID:9536098 11878550 MKS1 MKS transition zone complex subunit 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1352123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:17185389|PMID:17397051|PMID:19466712|PMID:23351400|PMID:24886560|PMID:25741868|PMID:26490104|PMID:28492532|PMID:30902645|PMID:34008892 11878550 MKS1 MKS transition zone complex subunit 1 gene DOID:0110997 Joubert Syndrome 28 ISO RGD:1352123 D RGD:7240710 20190315 OMIM 11878550 MKS1 MKS transition zone complex subunit 1 gene DOID:0110997 Joubert Syndrome 28 ISO RGD:1352123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 28 PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19466712|PMID:20301500|PMID:23351400|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27377014|PMID:27570071|PMID:28492532|PMID:28497568|PMID:30902645|PMID:31456290|PMID:34008892|PMID:9536098 11878550 MKS1 MKS transition zone complex subunit 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1352123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:30718709 11878550 MKS1 MKS transition zone complex subunit 1 gene DOID:1059 intellectual disability ISO RGD:1352123 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11878550 MKS1 MKS transition zone complex subunit 1 gene DOID:10907 microcephaly ISO RGD:1352123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24608809|PMID:25741868|PMID:28492532|PMID:30076350|PMID:33584783 11878550 MKS1 MKS transition zone complex subunit 1 gene DOID:1148 polydactyly ISO RGD:1352123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:18327255|PMID:20301500|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27570071|PMID:28492532|PMID:28497568|PMID:34008892 11878550 MKS1 MKS transition zone complex subunit 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1352123 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:18327255|PMID:25741868|PMID:28492532|PMID:31456290 11878550 MKS1 MKS transition zone complex subunit 1 gene DOID:574 peripheral nervous system disease ISO RGD:1352123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 11878550 MKS1 MKS transition zone complex subunit 1 gene DOID:630 genetic disease ISO RGD:1352123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:28771248|PMID:34582790|PMID:9536098 11878550 MKS1 MKS transition zone complex subunit 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1614795 D RGD:9068941 20220825 MouseDO OMIM:187500 11878550 MKS1 MKS transition zone complex subunit 1 gene DOID:870 neuropathy ISO RGD:1352123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 11878575 KCNS2 potassium voltage-gated channel modifier subfamily S member 2 gene DOID:0111590 Cohen syndrome ISO RGD:1342899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 11878575 KCNS2 potassium voltage-gated channel modifier subfamily S member 2 gene DOID:630 genetic disease ISO RGD:1342899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878582 PDE7A phosphodiesterase 7A gene DOID:630 genetic disease ISO RGD:68570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878613 POGLUT1 protein O-glucosyltransferase 1 gene DOID:0060256 Dowling-Degos disease ISO RGD:1604326 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11878613 POGLUT1 protein O-glucosyltransferase 1 gene DOID:0080762 autosomal recessive limb-girdle muscular dystrophy type 2Z ISO RGD:1604326 D RGD:7240710 20190315 OMIM 11878613 POGLUT1 protein O-glucosyltransferase 1 gene DOID:0080762 autosomal recessive limb-girdle muscular dystrophy type 2Z ISO RGD:1604326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Z | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2z PMID:25741868|PMID:27807076|PMID:28492532|PMID:31897643 11878613 POGLUT1 protein O-glucosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1604326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11878613 POGLUT1 protein O-glucosyltransferase 1 gene DOID:9003079 Dowling-Degos Disease 4 ISO RGD:1604326 D RGD:7240710 20180130 OMIM 11878613 POGLUT1 protein O-glucosyltransferase 1 gene DOID:9003079 Dowling-Degos Disease 4 ISO RGD:1604326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dowling-Degos disease 4 PMID:20664185|PMID:21971768|PMID:24387993|PMID:25741868|PMID:27479915|PMID:28492532|PMID:30414910 11878628 SERPINA9 serpin family A member 9 gene DOID:0081063 DICER1 syndrome ISO RGD:1312435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 11878628 SERPINA9 serpin family A member 9 gene DOID:630 genetic disease ISO RGD:1312435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878674 ZNF10 zinc finger protein 10 gene DOID:630 genetic disease ISO RGD:1342937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878724 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:0110143 Bartter disease type 2 ISO RGD:732016 D RGD:7240710 20180130 OMIM 11878724 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:0110143 Bartter disease type 2 ISO RGD:732016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bartter disease type 2 PMID:10049979|PMID:10611379|PMID:10878442|PMID:11318951|PMID:12911542|PMID:18391953|PMID:19096086|PMID:19602640|PMID:20699659|PMID:20926634|PMID:22245519|PMID:24400161|PMID:24659592|PMID:24696311|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28630040|PMID:29942493|PMID:31441846|PMID:32573669|PMID:32590952|PMID:32939031|PMID:32997650|PMID:8841184|PMID:9002665|PMID:9015377|PMID:9502574|PMID:9580661|PMID:9727001 11878724 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:732016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11878724 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:10283 prostate cancer ISO RGD:732016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11878724 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:10763 hypertension ISO RGD:732016 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 11878724 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:1184 nephrotic syndrome ISO RGD:2957 D RGD:9068941 20200609 RGD PMID:21606114|REF_RGD_ID:7244390 11878724 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:1826 epilepsy ISO RGD:732016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:10611379|PMID:12086641|PMID:28492532|PMID:31672324|PMID:32185747 11878724 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:445 Bartter disease ISO RGD:732016 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Antenatal Bartter syndrome | ClinVar Annotator: match by term: Bartter syndrome PMID:10611379|PMID:10878442|PMID:12081585|PMID:12911542|PMID:16982955|PMID:18391953|PMID:19096086|PMID:21865213|PMID:23782368|PMID:24400161|PMID:24659592|PMID:24696311|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29942493|PMID:32573669|PMID:32939031|PMID:32997650|PMID:33058840|PMID:9015377|PMID:9502574|PMID:9587066 11878724 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:5419 schizophrenia ISO RGD:732016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11878724 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:630 genetic disease ISO RGD:732016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18391953|PMID:19096086|PMID:25741868|PMID:26467025|PMID:28492532 11878724 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:732016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11878724 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:9007661 Dwarfism ISO RGD:732016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11878750 FFAR1 free fatty acid receptor 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:736481 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11878750 FFAR1 free fatty acid receptor 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:736481 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11878750 FFAR1 free fatty acid receptor 1 gene DOID:543 dystonia ISO RGD:736481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11878750 FFAR1 free fatty acid receptor 1 gene DOID:630 genetic disease ISO RGD:736481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878750 FFAR1 free fatty acid receptor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736481 D RGD:9068941 20211015 RGD PMID:19758793|REF_RGD_ID:2315761 11878750 FFAR1 free fatty acid receptor 1 gene DOID:9352 type 2 diabetes mellitus ameliorates ISO RGD:736481 D RGD:9068941 20211015 RGD PMID:19401434|REF_RGD_ID:150517551 11878766 HPCA hippocalcin gene DOID:0050861 colorectal adenocarcinoma severity ISO RGD:735421 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:colon carcinoma (human) PMID:22696308|REF_RGD_ID:9693683 11878766 HPCA hippocalcin gene DOID:0060870 isolated growth hormone deficiency ISO RGD:735422 D RGD:9068941 20200609 RGD protein:altered expression:cerebral cortex, cerebellum, hippocampus (mouse) PMID:7882001|REF_RGD_ID:9693682 11878766 HPCA hippocalcin gene DOID:0090038 torsion dystonia 2 ISO RGD:735421 D RGD:7240710 20180130 OMIM 11878766 HPCA hippocalcin gene DOID:0090038 torsion dystonia 2 ISO RGD:735421 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Torsion dystonia 2 PMID:14694054|PMID:25799108|PMID:28492532|PMID:6115727 11878766 HPCA hippocalcin gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:735421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11878766 HPCA hippocalcin gene DOID:12858 Huntington's disease ISO RGD:735421 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain (human) PMID:19686238|REF_RGD_ID:9693681 11878766 HPCA hippocalcin gene DOID:630 genetic disease ISO RGD:735421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878782 GJA1 gap junction protein alpha 1 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:10649 D RGD:9068941 20230420 RGD protein:decreased expression:cardiac ventricle (mouse) PMID:27412010|REF_RGD_ID:265253172 11878782 GJA1 gap junction protein alpha 1 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:736925 D RGD:9068941 20200609 RGD protein:altered expression:ventricle PMID:23178689|REF_RGD_ID:11352402 11878782 GJA1 gap junction protein alpha 1 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:736925 D RGD:9068941 20200609 RGD protein:decreased expression:buccal mucosa PMID:26850880|REF_RGD_ID:13592599 11878782 GJA1 gap junction protein alpha 1 gene DOID:0050467 erythrokeratodermia variabilis ISO RGD:736925 D RGD:9068941 20200609 RGD DNA:mutations:cds:p.E227D,p.A44V(human) PMID:25398053|REF_RGD_ID:11568612 11878782 GJA1 gap junction protein alpha 1 gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:2690 D RGD:9068941 20200609 RGD protein:decreased expression:epithelium PMID:23568744|REF_RGD_ID:8662380 11878782 GJA1 gap junction protein alpha 1 gene DOID:0060224 atrial fibrillation ISO RGD:2690 D RGD:9068941 20200609 RGD protein:increased localization:lateral plasma membrane, cardiac muscle cell PMID:11527649|REF_RGD_ID:7207850 11878782 GJA1 gap junction protein alpha 1 gene DOID:0060224 atrial fibrillation ISO RGD:736925 D RGD:9068941 20200609 RGD associated with Rheumatic Diseases;protein:decreased expression:myocardium of atrium PMID:16953110|REF_RGD_ID:8662373 11878782 GJA1 gap junction protein alpha 1 gene DOID:0060224 atrial fibrillation ISO RGD:736925 D RGD:9068941 20200609 RGD protein:decreased expression:myocardium of atrium PMID:12062341|REF_RGD_ID:8662382 11878782 GJA1 gap junction protein alpha 1 gene DOID:0060224 atrial fibrillation susceptibility ISO RGD:10649 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.G60S(mouse) PMID:21239638|REF_RGD_ID:12910123 11878782 GJA1 gap junction protein alpha 1 gene DOID:0060291 oculodentodigital dysplasia ISO RGD:736925 D RGD:7240710 20180130 OMIM 11878782 GJA1 gap junction protein alpha 1 gene DOID:0060291 oculodentodigital dysplasia ISO RGD:736925 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Oculodentodigital dysplasia PMID:10331943|PMID:1057461|PMID:11470490|PMID:12457340|PMID:15108203|PMID:15192806|PMID:15551259|PMID:15637728|PMID:15879313|PMID:16531323|PMID:16709485|PMID:17256797|PMID:18003637|PMID:18079109|PMID:18946008|PMID:19057520|PMID:19338053|PMID:19638688|PMID:21215473|PMID:21670345|PMID:22090377|PMID:220941|PMID:22179534|PMID:2309863|PMID:23103513|PMID:23304551|PMID:23465283|PMID:23550541|PMID:24115525|PMID:25327171|PMID:25388818|PMID:25741868|PMID:27226478|PMID:28492532|PMID:30628995|PMID:32318302|PMID:34630166|PMID:4209752|PMID:7815444 11878782 GJA1 gap junction protein alpha 1 gene DOID:0070210 hereditary lymphedema IA ISO RGD:736925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Edema of the dorsum of feet PMID:25741868 11878782 GJA1 gap junction protein alpha 1 gene DOID:0070355 overactive bladder syndrome ISO RGD:2690 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:17855776|REF_RGD_ID:7207474 11878782 GJA1 gap junction protein alpha 1 gene DOID:0080249 erythrokeratodermia variabilis et progressiva 3 ISO RGD:736925 D RGD:7240710 20190315 OMIM 11878782 GJA1 gap junction protein alpha 1 gene DOID:0080249 erythrokeratodermia variabilis et progressiva 3 ISO RGD:736925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 3 PMID:25398053|PMID:28492532|PMID:30628963|PMID:30631135 11878782 GJA1 gap junction protein alpha 1 gene DOID:0080802 autosomal recessive craniometaphyseal dysplasia ISO RGD:736925 D RGD:7240710 20180130 OMIM 11878782 GJA1 gap junction protein alpha 1 gene DOID:0080802 autosomal recessive craniometaphyseal dysplasia ISO RGD:736925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive PMID:11146471|PMID:23951358|PMID:25741868|PMID:28492532 11878782 GJA1 gap junction protein alpha 1 gene DOID:0080855 Parkinsonism treatment ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:23783886|REF_RGD_ID:8662444 11878782 GJA1 gap junction protein alpha 1 gene DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 ISO RGD:736925 D RGD:7240710 20180130 OMIM 11878782 GJA1 gap junction protein alpha 1 gene DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 ISO RGD:736925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant palmoplantar keratoderma and congenital alopecia PMID:12457340|PMID:15879313|PMID:25168385|PMID:25327171|PMID:25741868|PMID:28492532|PMID:30628995 11878782 GJA1 gap junction protein alpha 1 gene DOID:0111817 syndactyly type 3 ISO RGD:736925 D RGD:7240710 20180130 OMIM 11878782 GJA1 gap junction protein alpha 1 gene DOID:0111817 syndactyly type 3 ISO RGD:736925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndactyly type 3 PMID:11470490|PMID:14729836|PMID:15192806|PMID:18079109|PMID:21215473|PMID:2157843|PMID:22090377|PMID:22179534|PMID:23103513|PMID:23304551|PMID:23465283|PMID:25741868|PMID:28492532 11878782 GJA1 gap junction protein alpha 1 gene DOID:0111819 syndactyly type 5 ISO RGD:736925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndactyly type 5 11878782 GJA1 gap junction protein alpha 1 gene DOID:10629 microphthalmia ISO RGD:736925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bilateral microphthalmos PMID:25741868 11878782 GJA1 gap junction protein alpha 1 gene DOID:10763 hypertension ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:16448880|REF_RGD_ID:7207810 11878782 GJA1 gap junction protein alpha 1 gene DOID:10763 hypertension ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16448880 11878782 GJA1 gap junction protein alpha 1 gene DOID:10763 hypertension treatment ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:23719203|REF_RGD_ID:8662439 11878782 GJA1 gap junction protein alpha 1 gene DOID:10914 amnestic disorder ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:22665389|REF_RGD_ID:7207267 11878782 GJA1 gap junction protein alpha 1 gene DOID:11193 syndactyly ISO RGD:736925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndactyly PMID:25741868|PMID:28492532 11878782 GJA1 gap junction protein alpha 1 gene DOID:11832 visual epilepsy ISO RGD:2690 D RGD:9068941 20220728 RGD PMID:14622215|REF_RGD_ID:1299355 11878782 GJA1 gap junction protein alpha 1 gene DOID:12577 urethral obstruction ISO RGD:2690 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:smooth muscle cell: PMID:11900482|REF_RGD_ID:11568666 11878782 GJA1 gap junction protein alpha 1 gene DOID:12849 autistic disorder ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18435417 11878782 GJA1 gap junction protein alpha 1 gene DOID:12858 Huntington's disease ISO RGD:736925 D RGD:9068941 20200609 RGD PMID:10873295|REF_RGD_ID:7207854 11878782 GJA1 gap junction protein alpha 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:2690 D RGD:9068941 20230420 RGD protein:decreased expression:heart (rat) PMID:26708424|REF_RGD_ID:264347602 11878782 GJA1 gap junction protein alpha 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:736925 D RGD:9068941 20200609 RGD PMID:12619876|REF_RGD_ID:1582667 11878782 GJA1 gap junction protein alpha 1 gene DOID:1591 renovascular hypertension ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:11422751|REF_RGD_ID:7207851 11878782 GJA1 gap junction protein alpha 1 gene DOID:1826 epilepsy ISO RGD:736925 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11878782 GJA1 gap junction protein alpha 1 gene DOID:1875 impotence ISO RGD:2690 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:corpus cavernosum penis PMID:17146929|REF_RGD_ID:8662385 11878782 GJA1 gap junction protein alpha 1 gene DOID:224 transient cerebral ischemia ISO RGD:2690 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:23328809|REF_RGD_ID:8662426 11878782 GJA1 gap junction protein alpha 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:10649 D RGD:9068941 20200609 RGD PMID:22812228|REF_RGD_ID:7207263 11878782 GJA1 gap junction protein alpha 1 gene DOID:2316 brain ischemia ISO RGD:2690 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:21718970|REF_RGD_ID:6480433 11878782 GJA1 gap junction protein alpha 1 gene DOID:3070 high grade glioma ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:22808518|REF_RGD_ID:7207264 11878782 GJA1 gap junction protein alpha 1 gene DOID:326 ischemia ISO RGD:2690 D RGD:9068941 20200609 RGD protein:increased expression:urothelium: PMID:24728265|REF_RGD_ID:11568671 11878782 GJA1 gap junction protein alpha 1 gene DOID:3362 coronary aneurysm ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15548583 11878782 GJA1 gap junction protein alpha 1 gene DOID:3390 palmoplantar keratosis ISO RGD:736925 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.23G>A,p.G8V(human) PMID:25168385|REF_RGD_ID:12910125 11878782 GJA1 gap junction protein alpha 1 gene DOID:5154 borna disease ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:18538309|REF_RGD_ID:7364785 11878782 GJA1 gap junction protein alpha 1 gene DOID:5844 myocardial infarction ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:22841862|REF_RGD_ID:7207262 11878782 GJA1 gap junction protein alpha 1 gene DOID:5844 myocardial infarction ISO RGD:2690 D RGD:9068941 20200609 RGD protein:decreased phosphorylation PMID:22969867|REF_RGD_ID:7207261 11878782 GJA1 gap junction protein alpha 1 gene DOID:5844 myocardial infarction treatment ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:29428663|REF_RGD_ID:13592597 11878782 GJA1 gap junction protein alpha 1 gene DOID:630 genetic disease ISO RGD:736925 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11146276|PMID:12861055|PMID:15879313|PMID:22214631|PMID:25741868|PMID:26087145|PMID:28492532|PMID:8576861|PMID:8970160 11878782 GJA1 gap junction protein alpha 1 gene DOID:6419 tetralogy of Fallot ISO RGD:736925 D RGD:9068941 20200609 RGD PMID:16010294|REF_RGD_ID:1582666 11878782 GJA1 gap junction protein alpha 1 gene DOID:6432 pulmonary hypertension ISO RGD:2690 D RGD:9068941 20200609 RGD mRNA:increased expression:pulmonary artery PMID:21414209|REF_RGD_ID:7207411 11878782 GJA1 gap junction protein alpha 1 gene DOID:6432 pulmonary hypertension treatment ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:23321332|REF_RGD_ID:8662411 11878782 GJA1 gap junction protein alpha 1 gene DOID:657 adenoma ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16926031 11878782 GJA1 gap junction protein alpha 1 gene DOID:7188 autoimmune thyroiditis ISO RGD:2690 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression, altered expression:thyroid gland: PMID:8770903|REF_RGD_ID:7349390 11878782 GJA1 gap junction protein alpha 1 gene DOID:784 chronic kidney disease ISO RGD:736925 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:32045570 11878782 GJA1 gap junction protein alpha 1 gene DOID:820 myocarditis ISO RGD:736925 D RGD:9068941 20200609 RGD PMID:12619876|REF_RGD_ID:1582667 11878782 GJA1 gap junction protein alpha 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:23403365|PMID:24183749|REF_RGD_ID:8662431|REF_RGD_ID:8662460 11878782 GJA1 gap junction protein alpha 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18003637|PMID:18077386 11878782 GJA1 gap junction protein alpha 1 gene DOID:9000064 Cardiac Arrhythmias treatment ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:23951191|REF_RGD_ID:8662422 11878782 GJA1 gap junction protein alpha 1 gene DOID:9000918 Disease Progression ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29180066 11878782 GJA1 gap junction protein alpha 1 gene DOID:9000998 Brain Injuries treatment ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:23485053|REF_RGD_ID:8662424 11878782 GJA1 gap junction protein alpha 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11878782 GJA1 gap junction protein alpha 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:19077877|REF_RGD_ID:7207423 11878782 GJA1 gap junction protein alpha 1 gene DOID:9002211 Hyperalgesia ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:23374942|REF_RGD_ID:8662456 11878782 GJA1 gap junction protein alpha 1 gene DOID:9002211 Hyperalgesia ISO RGD:736925 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:34286406 11878782 GJA1 gap junction protein alpha 1 gene DOID:9002211 Hyperalgesia treatment ISO RGD:2690 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:24631560|REF_RGD_ID:8662447 11878782 GJA1 gap junction protein alpha 1 gene DOID:9002213 Lymphatic Abnormalities ISO RGD:10649 D RGD:9068941 20200609 RGD PMID:27899284|REF_RGD_ID:13592598 11878782 GJA1 gap junction protein alpha 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 11878782 GJA1 gap junction protein alpha 1 gene DOID:9002457 Experimental Arthritis ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:23165424|REF_RGD_ID:7207259 11878782 GJA1 gap junction protein alpha 1 gene DOID:9003139 Cardiac Fibrosis ISO RGD:2690 D RGD:9068941 20200609 RGD protein:decreased expression:myocardium PMID:23906405|REF_RGD_ID:8662459 11878782 GJA1 gap junction protein alpha 1 gene DOID:9004464 Skin Neoplasms ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7586191 11878782 GJA1 gap junction protein alpha 1 gene DOID:9004538 Hearing Loss no_association ISO RGD:736925 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:12791041|REF_RGD_ID:8662384 11878782 GJA1 gap junction protein alpha 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:23576849|REF_RGD_ID:8662452 11878782 GJA1 gap junction protein alpha 1 gene DOID:9004641 Oculodentodigital Dysplasia, Autosomal Recessive ISO RGD:736925 D RGD:7240710 20200826 OMIM 11878782 GJA1 gap junction protein alpha 1 gene DOID:9004641 Oculodentodigital Dysplasia, Autosomal Recessive ISO RGD:736925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive PMID:11146471|PMID:11470490|PMID:12457340|PMID:14729836|PMID:14974090|PMID:14981729|PMID:15192806|PMID:15879313|PMID:16531323|PMID:16813608|PMID:16816024|PMID:17509830|PMID:18003637|PMID:18079109|PMID:18946008|PMID:19057520|PMID:19338053|PMID:19615768|PMID:21215473|PMID:21670345|PMID:22090377|PMID:22179534|PMID:2309863|PMID:23103513|PMID:23304551|PMID:23465283|PMID:23606748|PMID:23951358|PMID:24115525|PMID:24508941|PMID:25327171|PMID:25388818|PMID:25398053|PMID:25741868|PMID:26537360|PMID:27226478|PMID:28492532|PMID:29927410|PMID:30628963|PMID:30628995|PMID:30631135|PMID:30653986|PMID:30811667|PMID:32318302|PMID:32449269|PMID:34630166 11878782 GJA1 gap junction protein alpha 1 gene DOID:9005172 Lung Neoplasms ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15166089|PMID:16926031 11878782 GJA1 gap junction protein alpha 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10649 D RGD:9068941 20200609 RGD protein:decreased expression:retina, blood vessel PMID:20130277|REF_RGD_ID:8662383 11878782 GJA1 gap junction protein alpha 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2690 D RGD:9068941 20200609 RGD protein:altered expression:retina: PMID:22110070|REF_RGD_ID:7364887 11878782 GJA1 gap junction protein alpha 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2690 D RGD:9068941 20200609 RGD protein:increased expression:dermis PMID:22455314|REF_RGD_ID:7207269 11878782 GJA1 gap junction protein alpha 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:20609064|REF_RGD_ID:7207415 11878782 GJA1 gap junction protein alpha 1 gene DOID:9005856 Basaran Yilmaz Syndrome ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11878782 GJA1 gap junction protein alpha 1 gene DOID:9005968 Neuralgia ISO RGD:10649 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries; PMID:22951907|REF_RGD_ID:7364890 11878782 GJA1 gap junction protein alpha 1 gene DOID:9007136 Atrioventricular Septal Defect 3 ISO RGD:736925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect 3 PMID:11470490|PMID:22090377|PMID:25741868|PMID:28492532|PMID:30653986 11878782 GJA1 gap junction protein alpha 1 gene DOID:9007292 Schwartz-Lelek Syndrome ISO RGD:736925 D RGD:9068941 20200609 RGD DNA:missense mutation: :c.716G>A (p.R239Q) (human) PMID:23951358|REF_RGD_ID:8662399 11878782 GJA1 gap junction protein alpha 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17445419 11878782 GJA1 gap junction protein alpha 1 gene DOID:9007840 Chylothorax ISO RGD:10649 D RGD:9068941 20200609 RGD PMID:27899284|REF_RGD_ID:13592598 11878782 GJA1 gap junction protein alpha 1 gene DOID:9007925 Sudden Cardiac Death treatment ISO RGD:10649 D RGD:9068941 20200609 RGD PMID:22093512|REF_RGD_ID:12910124 11878782 GJA1 gap junction protein alpha 1 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:736925 D RGD:9068941 20200609 RGD DNA:mutations:cds:c.30C>T,c.71T>G(human) PMID:11741837|REF_RGD_ID:1578475 11878782 GJA1 gap junction protein alpha 1 gene DOID:9008212 Diabetic Foot ISO RGD:736925 D RGD:9068941 20200609 RGD protein:increased expression:dermis PMID:22455314|REF_RGD_ID:7207269 11878782 GJA1 gap junction protein alpha 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29180066 11878782 GJA1 gap junction protein alpha 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16292552|PMID:16720372 11878782 GJA1 gap junction protein alpha 1 gene DOID:9009087 Hypoplastic Left Heart Syndrome 1 ISO RGD:736925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome 1 PMID:11470490|PMID:15192806|PMID:18079109|PMID:21215473|PMID:22090377|PMID:22179534|PMID:23103513|PMID:23304551|PMID:23465283|PMID:25741868|PMID:28492532 11878782 GJA1 gap junction protein alpha 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2690 D RGD:9068941 20200609 RGD protein:increased phosphorylation:kidney PMID:21573906|REF_RGD_ID:7207393 11878782 GJA1 gap junction protein alpha 1 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11878782 GJA1 gap junction protein alpha 1 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:736925 D RGD:9068941 20200609 RGD PMID:11470490|REF_RGD_ID:1582668 11878787 CHST3 carbohydrate sulfotransferase 3 gene DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations ISO RGD:1352183 D RGD:7240710 20180130 OMIM 11878787 CHST3 carbohydrate sulfotransferase 3 gene DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations ISO RGD:1352183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia with congenital joint dislocations PMID:112567|PMID:15098240|PMID:15215498|PMID:15368507|PMID:18513679|PMID:18698629|PMID:19320654|PMID:20830804|PMID:23918704|PMID:24300290|PMID:25741868|PMID:26402641|PMID:26572954|PMID:27753269|PMID:28492532|PMID:29453417|PMID:29620724|PMID:30200136|PMID:32639237|PMID:9039660 11878787 CHST3 carbohydrate sulfotransferase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1352183 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11878787 CHST3 carbohydrate sulfotransferase 3 gene DOID:0080006 bone development disease ISO RGD:1352183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:28492532 11878787 CHST3 carbohydrate sulfotransferase 3 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1352183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11878787 CHST3 carbohydrate sulfotransferase 3 gene DOID:0111330 combined saposin deficiency ISO RGD:1352183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency PMID:28492532 11878787 CHST3 carbohydrate sulfotransferase 3 gene DOID:14764 Larsen syndrome ISO RGD:1352183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen syndrome PMID:28492532 11878787 CHST3 carbohydrate sulfotransferase 3 gene DOID:14789 spondyloepiphyseal dysplasia congenita ISO RGD:1352183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita PMID:28492532 11878787 CHST3 carbohydrate sulfotransferase 3 gene DOID:2256 osteochondrodysplasia ISO RGD:1352183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30200136 11878787 CHST3 carbohydrate sulfotransferase 3 gene DOID:2256 osteochondrodysplasia susceptibility ISO RGD:1352183 D RGD:9068941 20200609 RGD spondyloepiphyseal dysplasia, Omani type, OMIM:608637;DNA:missense mutation:p.R304Q PMID:15215498|REF_RGD_ID:1600853 11878787 CHST3 carbohydrate sulfotransferase 3 gene DOID:5419 schizophrenia ISO RGD:732189 D RGD:9068941 20220825 MouseDO OMIM:181500 11878787 CHST3 carbohydrate sulfotransferase 3 gene DOID:630 genetic disease ISO RGD:1352183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11878797 WDR5 WD repeat domain 5 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1349800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 11878797 WDR5 WD repeat domain 5 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1349800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11878797 WDR5 WD repeat domain 5 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1349800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11878797 WDR5 WD repeat domain 5 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1349800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11878797 WDR5 WD repeat domain 5 gene DOID:0081097 Rafiq syndrome ISO RGD:1349800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11878797 WDR5 WD repeat domain 5 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1349800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11878797 WDR5 WD repeat domain 5 gene DOID:1682 congenital heart disease ISO RGD:1349800 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Congenital heart disease 11878797 WDR5 WD repeat domain 5 gene DOID:3652 Leigh disease ISO RGD:1349800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11878797 WDR5 WD repeat domain 5 gene DOID:630 genetic disease ISO RGD:1349800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878818 CCNL2 cyclin L2 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11878818 CCNL2 cyclin L2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1319329 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11878818 CCNL2 cyclin L2 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1319329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11878818 CCNL2 cyclin L2 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1319329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11878818 CCNL2 cyclin L2 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1319329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11878818 CCNL2 cyclin L2 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1319329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11878818 CCNL2 cyclin L2 gene DOID:0111934 immunodeficiency 38 ISO RGD:1319329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11878818 CCNL2 cyclin L2 gene DOID:0111935 immunodeficiency 16 ISO RGD:1319329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11878818 CCNL2 cyclin L2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11878818 CCNL2 cyclin L2 gene DOID:630 genetic disease ISO RGD:1319329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878818 CCNL2 cyclin L2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11878818 CCNL2 cyclin L2 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1319329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11878818 CCNL2 cyclin L2 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1319329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11878854 CUEDC1 CUE domain containing 1 gene DOID:0050777 Joubert syndrome ISO RGD:1349850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11878854 CUEDC1 CUE domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1349850 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11878878 TCF7L1 transcription factor 7 like 1 gene DOID:630 genetic disease ISO RGD:1323251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878878 TCF7L1 transcription factor 7 like 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1323251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23811263 11878896 UBAP2 ubiquitin associated protein 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1323319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11878896 UBAP2 ubiquitin associated protein 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1323319 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11878896 UBAP2 ubiquitin associated protein 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1323319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11878896 UBAP2 ubiquitin associated protein 2 gene DOID:630 genetic disease ISO RGD:1323319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878896 UBAP2 ubiquitin associated protein 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1323319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11878896 UBAP2 ubiquitin associated protein 2 gene DOID:9870 galactosemia ISO RGD:1323319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11878945 NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1351390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25741868|PMID:28492532 11878945 NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1351390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11878945 NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1351390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11878945 NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1351390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 11878945 NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1351390 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11878945 NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0112069 nuclear type mitochondrial complex I deficiency 22 ISO RGD:1351390 D RGD:7240710 20190315 OMIM 11878945 NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0112069 nuclear type mitochondrial complex I deficiency 22 ISO RGD:1351390 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 PMID:21150889|PMID:22972949|PMID:25741868|PMID:28247337|PMID:28492532|PMID:33233646|PMID:34827632|PMID:34828274 11878945 NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1351390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 11878945 NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:1059 intellectual disability ISO RGD:1351390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11878945 NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:3652 Leigh disease ISO RGD:1351390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:25741868|PMID:28492532 11878945 NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:5419 schizophrenia ISO RGD:1351390 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11878945 NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:630 genetic disease ISO RGD:1351390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11878945 NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1351390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:28492532 11878945 NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1351390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11878963 SMIM27 small integral membrane protein 27 gene DOID:10584 retinitis pigmentosa ISO RGD:1625806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa 11878963 SMIM27 small integral membrane protein 27 gene DOID:630 genetic disease ISO RGD:1625806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878976 DND1 DND microRNA-mediated repression inhibitor 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1321748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11878976 DND1 DND microRNA-mediated repression inhibitor 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321748 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11878976 DND1 DND microRNA-mediated repression inhibitor 1 gene DOID:0110842 Usher syndrome type 3B ISO RGD:1321748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 3B PMID:28492532 11878976 DND1 DND microRNA-mediated repression inhibitor 1 gene DOID:3305 teratocarcinoma ISO RGD:1583648 D RGD:9068941 20210827 RGD compared to WKY PMID:22655094|REF_RGD_ID:40924659 11878976 DND1 DND microRNA-mediated repression inhibitor 1 gene DOID:630 genetic disease ISO RGD:1321748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878976 DND1 DND microRNA-mediated repression inhibitor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11878976 DND1 DND microRNA-mediated repression inhibitor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321748 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11878984 BPIFC BPI fold containing family C gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1323273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 11878984 BPIFC BPI fold containing family C gene DOID:630 genetic disease ISO RGD:1323273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11878984 BPIFC BPI fold containing family C gene DOID:9001750 Glucose-Galactose Malabsorption ISO RGD:1323273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital glucose-galactose malabsorption PMID:28492532 11879005 ERCC6L2 ERCC excision repair 6 like 2 gene DOID:1059 intellectual disability ISO RGD:1606875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11879005 ERCC6L2 ERCC excision repair 6 like 2 gene DOID:12450 pancytopenia ISO RGD:1606875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancytopenia PMID:25741868|PMID:29987015 11879005 ERCC6L2 ERCC excision repair 6 like 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1606875 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30879219 11879005 ERCC6L2 ERCC excision repair 6 like 2 gene DOID:4961 bone marrow disease ISO RGD:1606875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone marrow hypocellularity PMID:25741868|PMID:29987015 11879005 ERCC6L2 ERCC excision repair 6 like 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1606875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:24507776|PMID:25741868|PMID:27185855|PMID:28492532|PMID:29146883|PMID:29987015 11879005 ERCC6L2 ERCC excision repair 6 like 2 gene DOID:630 genetic disease ISO RGD:1606875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11879005 ERCC6L2 ERCC excision repair 6 like 2 gene DOID:9004906 Congenital Bone Marrow Failure Syndromes ISO RGD:1606875 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11879005 ERCC6L2 ERCC excision repair 6 like 2 gene DOID:9007049 Bone Marrow Failure Syndrome 2 ISO RGD:1606875 D RGD:7240710 20180130 OMIM 11879005 ERCC6L2 ERCC excision repair 6 like 2 gene DOID:9007049 Bone Marrow Failure Syndrome 2 ISO RGD:1606875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone marrow failure syndrome 2 PMID:24507776|PMID:25741868|PMID:27185855|PMID:28492532|PMID:29146883|PMID:29633571|PMID:29987015 11879043 ATP6V0A4 ATPase H+ transporting V0 subunit a4 gene DOID:0060346 Native American myopathy ISO RGD:1312856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA PMID:24033266|PMID:25741868|PMID:28492532 11879043 ATP6V0A4 ATPase H+ transporting V0 subunit a4 gene DOID:0080690 RASopathy ISO RGD:1312856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 11879043 ATP6V0A4 ATPase H+ transporting V0 subunit a4 gene DOID:14219 renal tubular acidosis ISO RGD:1312856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:12414817|PMID:25741868|PMID:29311258|PMID:31959358 11879043 ATP6V0A4 ATPase H+ transporting V0 subunit a4 gene DOID:14219 renal tubular acidosis susceptibility ISO RGD:1312856 D RGD:9068941 20200609 RGD DNA:nonsense,deletion,splice-site PMID:10973252|REF_RGD_ID:1599383 11879043 ATP6V0A4 ATPase H+ transporting V0 subunit a4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11879043 ATP6V0A4 ATPase H+ transporting V0 subunit a4 gene DOID:630 genetic disease ISO RGD:1312856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11879043 ATP6V0A4 ATPase H+ transporting V0 subunit a4 gene DOID:9005808 Distal Renal Tubular Acidosis 3, Autosomal Recessive ISO RGD:1312856 D RGD:7240710 20180130 OMIM 11879043 ATP6V0A4 ATPase H+ transporting V0 subunit a4 gene DOID:9005808 Distal Renal Tubular Acidosis 3, Autosomal Recessive ISO RGD:1312856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Recessive | ClinVar Annotator: match by term: RTA, distal, autosomal recessive | ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing | ClinVar Annotator: match by term: Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss PMID:10973252|PMID:12414817|PMID:16611712|PMID:17576681|PMID:18632794|PMID:19364879|PMID:23754897|PMID:24033266|PMID:24252324|PMID:25741868|PMID:26208211|PMID:27247958|PMID:28188436|PMID:28492532|PMID:29024829|PMID:29202719|PMID:29311258|PMID:29398133|PMID:29627839|PMID:30230413|PMID:31589614|PMID:31738409|PMID:31959358|PMID:32613277|PMID:34159584|PMID:35738466|PMID:9536098 11879043 ATP6V0A4 ATPase H+ transporting V0 subunit a4 gene DOID:9007406 Distal Renal Tubular Acidosis ISO RGD:1312856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:12414817|PMID:25741868|PMID:29311258|PMID:31959358 11879067 FGF1 fibroblast growth factor 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:735698 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11879067 FGF1 fibroblast growth factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:735698 D RGD:9068941 20200609 RGD PMID:20079650|REF_RGD_ID:5509878 11879067 FGF1 fibroblast growth factor 1 gene DOID:11054 urinary bladder cancer ISO RGD:735698 D RGD:9068941 20200609 RGD PMID:11908679|REF_RGD_ID:2290291 11879067 FGF1 fibroblast growth factor 1 gene DOID:1240 leukemia ISO RGD:735698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17219402 11879067 FGF1 fibroblast growth factor 1 gene DOID:127 leiomyoma disease_progression ISO RGD:735698 D RGD:9068941 20200609 RGD protein:increased expression:uterus PMID:16139411|REF_RGD_ID:2290287 11879067 FGF1 fibroblast growth factor 1 gene DOID:1380 endometrial cancer disease_progression ISO RGD:735698 D RGD:9068941 20200609 RGD mRNA:increased expression:myometrium PMID:8685603|REF_RGD_ID:2298516 11879067 FGF1 fibroblast growth factor 1 gene DOID:2316 brain ischemia ISO RGD:2605 D RGD:9068941 20200609 RGD PMID:19497570|REF_RGD_ID:5509879 11879067 FGF1 fibroblast growth factor 1 gene DOID:2316 brain ischemia ISO RGD:735698 D RGD:9068941 20200609 RGD Rat model using human FGF1 PMID:16635575|REF_RGD_ID:5509881 11879067 FGF1 fibroblast growth factor 1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:735698 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:14613644|REF_RGD_ID:2290288 11879067 FGF1 fibroblast growth factor 1 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:735698 D RGD:9068941 20200609 RGD protein:increased expression:urine, urinary bladder PMID:7690426|REF_RGD_ID:2298518 11879067 FGF1 fibroblast growth factor 1 gene DOID:3770 pulmonary fibrosis ISO RGD:735698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16324872 11879067 FGF1 fibroblast growth factor 1 gene DOID:5419 schizophrenia ISO RGD:735698 D RGD:9068941 20200609 RGD GWAS result PMID:17893707|REF_RGD_ID:5509880 11879067 FGF1 fibroblast growth factor 1 gene DOID:5844 myocardial infarction treatment ISO RGD:735698 D RGD:9068941 20200609 RGD PMID:24200746|REF_RGD_ID:10449026 11879067 FGF1 fibroblast growth factor 1 gene DOID:630 genetic disease ISO RGD:735698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11879067 FGF1 fibroblast growth factor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2605 D RGD:9068941 20200609 RGD PMID:20488178|PMID:8662542|REF_RGD_ID:5509876|REF_RGD_ID:5509877 11879067 FGF1 fibroblast growth factor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:735698 D RGD:9068941 20200609 RGD PMID:21663406|REF_RGD_ID:5509875 11879067 FGF1 fibroblast growth factor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:735698 D RGD:9068941 20200609 RGD Human FGF1 used in rat model of spinal cord injury PMID:18482974|REF_RGD_ID:2317692 11879067 FGF1 fibroblast growth factor 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:735698 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms;mRNA:increased expression:lymph node PMID:17242701|REF_RGD_ID:2290286 11879067 FGF1 fibroblast growth factor 1 gene DOID:9001472 Nasal Polyps ISO RGD:735698 D RGD:9068941 20200609 RGD PMID:16720444|REF_RGD_ID:8655569 11879067 FGF1 fibroblast growth factor 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:735698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25174399 11879067 FGF1 fibroblast growth factor 1 gene DOID:9003566 Mesothelioma ISO RGD:735698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15878867 11879067 FGF1 fibroblast growth factor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2605 D RGD:9068941 20200609 RGD PMID:19497570|REF_RGD_ID:5509879 11879067 FGF1 fibroblast growth factor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:735698 D RGD:9068941 20200609 RGD Rat model using human FGF1 PMID:16635575|REF_RGD_ID:5509881 11879067 FGF1 fibroblast growth factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11879067 FGF1 fibroblast growth factor 1 gene DOID:9004657 Weight Gain ISO RGD:735698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11879067 FGF1 fibroblast growth factor 1 gene DOID:9006024 Hypotension ISO RGD:735698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9233905 11879067 FGF1 fibroblast growth factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735698 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11879067 FGF1 fibroblast growth factor 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:735698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11879067 FGF1 fibroblast growth factor 1 gene DOID:9296 cleft lip ISO RGD:735698 D RGD:9068941 20200609 RGD DNA:SNP: :rs34010 (human) PMID:24613087|REF_RGD_ID:11567264 11879077 DMRTA2 DMRT like family A2 gene DOID:630 genetic disease ISO RGD:1343593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:0060001 withdrawal disorder ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18184829 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:0060041 autism spectrum disorder ISO RGD:736847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:19050728|PMID:19289393|PMID:20506139|PMID:20506140|PMID:21844811|PMID:22420048|PMID:23044707|PMID:25255310|PMID:25741868|PMID:27569545 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:0060321 umbilical hernia ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22473653 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:736847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:0060394 chromosome 15q13.3 microdeletion syndrome ISO RGD:736847 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome PMID:31690835 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:0080600 COVID-19 ISO RGD:736847 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:0111321 idiopathic generalized epilepsy 7 ISO RGD:736847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 PMID:25326635|PMID:25741868 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:10652 Alzheimer's disease ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18071042 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:10652 Alzheimer's disease ISO RGD:736847 D RGD:9068941 20200609 RGD PMID:15465084|REF_RGD_ID:1358509 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:10357 D RGD:9068941 20220414 RGD PMID:14970827|REF_RGD_ID:151708703 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:12217 Lewy body dementia ISO RGD:736847 D RGD:9068941 20200609 RGD PMID:15465084|REF_RGD_ID:1358509 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:12849 autistic disorder ISO RGD:736847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:1324 lung cancer disease_progression ISO RGD:736847 D RGD:9068941 20220414 RGD DNA:CNV:: CNV-3956(human) PMID:25407004|REF_RGD_ID:11074492 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:1561 cognitive disorder ameliorates ISO RGD:2348 D RGD:9068941 20220414 RGD PMID:19158670|REF_RGD_ID:151708702 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:736847 D RGD:9068941 20220414 RGD DNA:CNV:: CNV-3956(human) PMID:25407004|REF_RGD_ID:11074492 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736847 D RGD:9068941 20220224 RGD mRNA:increased expression:esophagus (human) PMID:27610024|REF_RGD_ID:151361143 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:736847 D RGD:9068941 20220414 RGD PMID:33603170|REF_RGD_ID:151667905 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:736847 D RGD:9068941 20220414 RGD PMID:33603170|REF_RGD_ID:151667905 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:736847 D RGD:9068941 20220414 RGD PMID:19151195|PMID:19326440|REF_RGD_ID:151667906|REF_RGD_ID:151667908 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:5419 schizophrenia ISO RGD:736847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:630 genetic disease ISO RGD:736847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:7148 rheumatoid arthritis ISO RGD:2348 D RGD:9068941 20220414 RGD mRNA,protein:increased expression:joint, spleen: PMID:31279484|REF_RGD_ID:151676715 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:7474 malignant pleural mesothelioma ameliorates ISO RGD:736847 D RGD:9068941 20220414 RGD PMID:18722110|REF_RGD_ID:151667912 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:8577 ulcerative colitis ISO RGD:736847 D RGD:9068941 20220414 RGD mRNA:increased expression:intestine: PMID:27051591|REF_RGD_ID:151667910 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:8778 Crohn's disease ISO RGD:736847 D RGD:9068941 20220414 RGD mRNA:increased expression:colon: PMID:27051591|REF_RGD_ID:151667910 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9000099 Experimental Colitis treatment ISO RGD:2348 D RGD:9068941 20220623 RGD PMID:29572553|REF_RGD_ID:152995414 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9000998 Brain Injuries ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9001310 Tobacco Use Disorder ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24289814 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9001793 Generalized Epilepsy ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19136953 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9002211 Hyperalgesia ameliorates ISO RGD:2348 D RGD:9068941 20220414 RGD associated with sciatic neuropathy; PMID:20619541|REF_RGD_ID:151708701 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19898479 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9002886 Auditory Perceptual Disorders ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10578459 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9002955 Nerve Degeneration ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21715663 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18844224 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9005172 Lung Neoplasms ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24089524 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9007 sudden infant death syndrome ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22000980 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9007921 Spina Bifida Cystica ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22473653 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9008023 Memory Disorders ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18848931 11879084 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9256 colorectal cancer ISO RGD:736847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 11879110 LRRC70 leucine rich repeat containing 70 gene DOID:630 genetic disease ISO RGD:2302535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11879110 LRRC70 leucine rich repeat containing 70 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2302535 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11879119 ZNRF4 zinc and ring finger 4 gene DOID:630 genetic disease ISO RGD:1345671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11879124 RAVER1 ribonucleoprotein, PTB binding 1 gene DOID:630 genetic disease ISO RGD:1603914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11879144 GRIA2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:0060001 withdrawal disorder ISO RGD:732446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12511956 11879144 GRIA2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:11832 visual epilepsy ISO RGD:62154 D RGD:9068941 20200609 RGD PMID:7502080|REF_RGD_ID:737715 11879144 GRIA2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:1824 status epilepticus ISO RGD:61862 D RGD:9068941 20200609 RGD PMID:25457025|REF_RGD_ID:13792697 11879144 GRIA2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:1824 status epilepticus ISO RGD:732446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19222700 11879144 GRIA2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:4481 allergic rhinitis ISO RGD:732446 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:34624383 11879144 GRIA2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:630 genetic disease ISO RGD:732446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:27352031|PMID:31300657 11879144 GRIA2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:9000543 Death ISO RGD:62154 D RGD:9068941 20200609 RGD PMID:7502080|REF_RGD_ID:737715 11879144 GRIA2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:9002362 Hyperkinesis ISO RGD:732446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18171924 11879144 GRIA2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:9004042 Olfaction Disorders ISO RGD:732446 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:34624383 11879144 GRIA2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732446 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11879144 GRIA2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:9005015 NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES ISO RGD:732446 D RGD:7240710 20201111 OMIM 11879144 GRIA2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:9005015 NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES ISO RGD:732446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with language impairment and behavioral abnormalities PMID:25741868|PMID:28492532|PMID:31300657 11879144 GRIA2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18945913 11879175 ZNF394 zinc finger protein 394 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1354133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11879175 ZNF394 zinc finger protein 394 gene DOID:630 genetic disease ISO RGD:1354133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11879183 TMC5 transmembrane channel like 5 gene DOID:630 genetic disease ISO RGD:1315994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11879212 CDH13 cadherin 13 gene DOID:10283 prostate cancer disease_progression ISO RGD:734374 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:18387661|REF_RGD_ID:2293539 11879212 CDH13 cadherin 13 gene DOID:11054 urinary bladder cancer ISO RGD:734374 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:18094410|REF_RGD_ID:2293014 11879212 CDH13 cadherin 13 gene DOID:1612 breast cancer ISO RGD:734374 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:17764565|REF_RGD_ID:2293542 11879212 CDH13 cadherin 13 gene DOID:1612 breast cancer ISO RGD:734374 D RGD:9068941 20200609 RGD protein:decreased expression:breast duct: PMID:8673923|REF_RGD_ID:734735 11879212 CDH13 cadherin 13 gene DOID:2349 arteriosclerosis ISO RGD:734374 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:11326751|REF_RGD_ID:2293555 11879212 CDH13 cadherin 13 gene DOID:2394 ovarian cancer ISO RGD:734374 D RGD:9068941 20200609 RGD DNA:deletion, hypermethylation PMID:10493953|REF_RGD_ID:2298987 11879212 CDH13 cadherin 13 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:734374 D RGD:9068941 20200609 RGD DNA:hypomethylation PMID:18519763|REF_RGD_ID:2298985 11879212 CDH13 cadherin 13 gene DOID:303 substance-related disorder ISO RGD:619745 D RGD:9068941 20200820 RGD PMID:28387990|REF_RGD_ID:13503340 11879212 CDH13 cadherin 13 gene DOID:303 substance-related disorder ISO RGD:734374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11879212 CDH13 cadherin 13 gene DOID:3459 breast carcinoma ISO RGD:734374 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:11389090|REF_RGD_ID:2293545 11879212 CDH13 cadherin 13 gene DOID:3908 lung non-small cell carcinoma ISO RGD:734374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18337602 11879212 CDH13 cadherin 13 gene DOID:3908 lung non-small cell carcinoma ISO RGD:734374 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:11389090|REF_RGD_ID:2293545 11879212 CDH13 cadherin 13 gene DOID:4247 coronary restenosis ISO RGD:619745 D RGD:9068941 20200609 RGD protein:increased expression:artery, smooth muscle cell PMID:12376824|REF_RGD_ID:2293553 11879212 CDH13 cadherin 13 gene DOID:4362 cervical cancer ISO RGD:734374 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:17548682|REF_RGD_ID:2293543 11879212 CDH13 cadherin 13 gene DOID:630 genetic disease ISO RGD:734374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11879212 CDH13 cadherin 13 gene DOID:670 amphetamine abuse ISO RGD:734374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11879212 CDH13 cadherin 13 gene DOID:684 hepatocellular carcinoma ISO RGD:734374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18425332|PMID:18553387|PMID:28284560 11879212 CDH13 cadherin 13 gene DOID:9000117 Esophageal Neoplasms ISO RGD:734374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18729198 11879212 CDH13 cadherin 13 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:734374 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:17029216|REF_RGD_ID:2293544 11879212 CDH13 cadherin 13 gene DOID:9002304 Prostatic Neoplasms ISO RGD:734374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17288544|PMID:18264096 11879212 CDH13 cadherin 13 gene DOID:9005172 Lung Neoplasms ISO RGD:619745 D RGD:9068941 20200609 RGD associated with Inflammation;DNA:hypermethylation:promoter PMID:17971904|REF_RGD_ID:2293546 11879212 CDH13 cadherin 13 gene DOID:9005172 Lung Neoplasms ISO RGD:734374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18337602 11879212 CDH13 cadherin 13 gene DOID:9005172 Lung Neoplasms ISO RGD:734374 D RGD:9068941 20200609 RGD PMID:9737784|REF_RGD_ID:734736 11879212 CDH13 cadherin 13 gene DOID:9005233 Experimental Mammary Neoplasms severity ISO RGD:734375 D RGD:9068941 20200609 RGD PMID:18316604|REF_RGD_ID:2293540 11879212 CDH13 cadherin 13 gene DOID:9206 Barrett's esophagus ISO RGD:734374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18729198 11879236 MAN2B2 mannosidase alpha class 2B member 2 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1318845 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:31775018 11879236 MAN2B2 mannosidase alpha class 2B member 2 gene DOID:630 genetic disease ISO RGD:1318845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11879294 NAGK N-acetylglucosamine kinase gene DOID:543 dystonia ISO RGD:1312859 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11879294 NAGK N-acetylglucosamine kinase gene DOID:630 genetic disease ISO RGD:1312859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11879294 NAGK N-acetylglucosamine kinase gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1312859 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11879294 NAGK N-acetylglucosamine kinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1312859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 11879294 NAGK N-acetylglucosamine kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11879294 NAGK N-acetylglucosamine kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11879324 PLEKHA2 pleckstrin homology domain containing A2 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1352018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 11879324 PLEKHA2 pleckstrin homology domain containing A2 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1352018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 11879324 PLEKHA2 pleckstrin homology domain containing A2 gene DOID:607 paraplegia ISO RGD:1352018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11879324 PLEKHA2 pleckstrin homology domain containing A2 gene DOID:630 genetic disease ISO RGD:1352018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11879351 DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:0060479 Shwachman-Diamond syndrome ISO RGD:734039 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 PMID:16199547|PMID:25741868|PMID:27346687|PMID:28062395|PMID:28492532|PMID:29146883 11879351 DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:734039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:28492532 11879351 DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:630 genetic disease ISO RGD:734039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28062395|PMID:28492532|PMID:29700810 11879351 DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:9001510 Funnel Chest ISO RGD:734039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:25741868 11879351 DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11879351 DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:9004906 Congenital Bone Marrow Failure Syndromes ISO RGD:734039 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inherited bone marrow failure syndrome PMID:16199547|PMID:25741868|PMID:27346687|PMID:28062395|PMID:28492532|PMID:29146883 11879351 DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:9005307 Bone Marrow Failure Syndrome 3 ISO RGD:734039 D RGD:7240710 20190315 OMIM 11879351 DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:9005307 Bone Marrow Failure Syndrome 3 ISO RGD:734039 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bone marrow failure syndrome 3 PMID:16199547|PMID:25741868|PMID:27346687|PMID:28062395|PMID:28492532|PMID:29146883|PMID:29700810 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:0050645 arterial tortuosity syndrome ISO RGD:1348351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arterial tortuosity PMID:25741868 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:0050827 rheumatic heart disease ISO RGD:621676 D RGD:9068941 20230202 RGD mRNA, protein:increases expression:mitral valve, heart (rat) PMID:33179113|REF_RGD_ID:155882558 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1348351 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:18456716|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9467011 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1616012 D RGD:9068941 20210702 RGD mRNA:increased expression:liver (mouse) PMID:28100771|REF_RGD_ID:127285675 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:0080685 aortic dissection ISO RGD:1348351 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Descending aortic dissection PMID:25741868 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:0080685 aortic dissection ameliorates ISO RGD:1616012 D RGD:9068941 20230223 RGD Apolipoprotein E knockout PMID:33403385|REF_RGD_ID:156420156 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:11664 nephrosclerosis ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:13099 Moyamoya disease ISO RGD:1348351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Moyamoya disease | ClinVar Annotator: match by term: Moyamoya syndrome PMID:25741868|PMID:28492532 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20493835 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:13619 extrahepatic cholestasis ISO RGD:1348351 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:28789951|PMID:31932644 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10532176|PMID:13129918|PMID:15138499|PMID:15472996|PMID:17576681|PMID:17994018|PMID:19409525|PMID:19639654|PMID:20689142|PMID:20734336|PMID:20970362|PMID:21212136|PMID:21248741|PMID:21288906|PMID:21733706|PMID:21937134|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23099432|PMID:23253043|PMID:23613326|PMID:24020716|PMID:24033266|PMID:24243736|PMID:24293535|PMID:24621862|PMID:24793577|PMID:24998021|PMID:25326635|PMID:25644172|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26153420|PMID:26188975|PMID:26637293|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:27611364|PMID:28492532|PMID:28659821|PMID:28855619|PMID:29300374|PMID:29687370|PMID:29907982|PMID:9536098 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348351 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10532176|PMID:13129918|PMID:15138499|PMID:15472996|PMID:17576681|PMID:17994018|PMID:19409525|PMID:19639654|PMID:20689142|PMID:20734336|PMID:20970362|PMID:21212136|PMID:21248741|PMID:21288906|PMID:21733706|PMID:21937134|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23099432|PMID:23253043|PMID:23613326|PMID:24020716|PMID:24033266|PMID:24243736|PMID:24293535|PMID:24621862|PMID:24793577|PMID:24998021|PMID:25326635|PMID:25644172|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26153420|PMID:26188975|PMID:26637293|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:27611364|PMID:28074886|PMID:28492532|PMID:28659821|PMID:28855619|PMID:29300374|PMID:29687370|PMID:29907982|PMID:9536098 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348351 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10532176|PMID:13129918|PMID:15138499|PMID:15472996|PMID:17576681|PMID:17994018|PMID:19409525|PMID:19639654|PMID:20734336|PMID:20970362|PMID:21212136|PMID:21248741|PMID:21288906|PMID:21733706|PMID:21937134|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23099432|PMID:23253043|PMID:23613326|PMID:24020716|PMID:24033266|PMID:24243736|PMID:24293535|PMID:24621862|PMID:24998021|PMID:25326635|PMID:25644172|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26153420|PMID:26188975|PMID:26637293|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:27611364|PMID:28074886|PMID:28166811|PMID:28492532|PMID:28652363|PMID:28659821|PMID:28855619|PMID:29300374|PMID:29687370|PMID:29907982|PMID:31911919|PMID:9536098 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348351 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10532176|PMID:13129918|PMID:15138499|PMID:15472996|PMID:17576681|PMID:17994018|PMID:19409525|PMID:19639654|PMID:20734336|PMID:20970362|PMID:21212136|PMID:21248741|PMID:21288906|PMID:21733706|PMID:21937134|PMID:22001912|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23041370|PMID:23099432|PMID:23253043|PMID:23613326|PMID:24020716|PMID:24033266|PMID:24243736|PMID:24293535|PMID:24621862|PMID:24793577|PMID:24998021|PMID:25326635|PMID:25504618|PMID:25557781|PMID:25644172|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26153420|PMID:26188975|PMID:26637293|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:27611364|PMID:27879251|PMID:28074886|PMID:28166811|PMID:28492532|PMID:28652363|PMID:28659821|PMID:28848449|PMID:28855619|PMID:29300374|PMID:29687370|PMID:29867215|PMID:29907982|PMID:30341550|PMID:31911919|PMID:36053285|PMID:9536098 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348351 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10532176|PMID:13129918|PMID:14730227|PMID:15138499|PMID:15472996|PMID:17576681|PMID:17994018|PMID:19409525|PMID:19639654|PMID:20734336|PMID:20970362|PMID:21212136|PMID:21248741|PMID:21288906|PMID:21733706|PMID:21937134|PMID:22001912|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23041370|PMID:23099432|PMID:23253043|PMID:23613326|PMID:24020716|PMID:24033266|PMID:24243736|PMID:24293535|PMID:24621862|PMID:24793577|PMID:24998021|PMID:25326635|PMID:25504618|PMID:25557781|PMID:25644172|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26153420|PMID:26188975|PMID:26637293|PMID:27146836|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:27611364|PMID:27879251|PMID:28074886|PMID:28492532|PMID:28652363|PMID:28659821|PMID:28848449|PMID:28855619|PMID:29202781|PMID:29300374|PMID:29543232|PMID:29687370|PMID:29867215|PMID:29907982|PMID:30341550|PMID:31911919|PMID:32093627|PMID:34422331|PMID:36053285|PMID:9536098 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:289 endometriosis ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:326 ischemia ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19458120 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:3770 pulmonary fibrosis ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30639579 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:409 liver disease ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11738102 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:418 systemic scleroderma ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24706986 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:4977 lymphedema ISO RGD:1348351 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue: PMID:21510802|REF_RGD_ID:12879442 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:5082 liver cirrhosis ISO RGD:1348351 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:24239723|PMID:24321339|PMID:30097701|PMID:32659284 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:5199 ureteral obstruction ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:520 aortic disease ISO RGD:1348351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:19409525|PMID:20734336|PMID:21212136|PMID:21248741|PMID:21733706|PMID:21937134|PMID:22752479|PMID:22946110|PMID:23613326|PMID:24243736|PMID:24293535|PMID:24621862|PMID:24998021|PMID:25644172|PMID:25741868|PMID:25759435|PMID:26034244|PMID:26153420|PMID:27481187|PMID:27567161|PMID:27611364|PMID:28492532|PMID:29300374|PMID:29907982 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:557 kidney disease ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19913069|PMID:31697999 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:5844 myocardial infarction ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24358288 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:630 genetic disease ISO RGD:1348351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:65 connective tissue disease ISO RGD:1348351 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:10532176|PMID:13129918|PMID:14730227|PMID:15138499|PMID:15472996|PMID:19409525|PMID:20734336|PMID:20970362|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23253043|PMID:23613326|PMID:24033266|PMID:24293535|PMID:24621862|PMID:24998021|PMID:25326635|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26637293|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:28492532|PMID:28652363|PMID:29300374|PMID:31911919 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1348351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:16199547|PMID:22237435|PMID:28492532 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:9000784 Fibrosis ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31697999 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:9001444 Moyamoya Disease 5 ISO RGD:1348351 D RGD:7240710 20180130 OMIM 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:9001444 Moyamoya Disease 5 ISO RGD:1348351 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Moyamoya disease 5 PMID:10532176|PMID:13129918|PMID:14730227|PMID:15138499|PMID:15472996|PMID:17576681|PMID:17994018|PMID:19409525|PMID:20734336|PMID:20970362|PMID:21248741|PMID:21288906|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22753406|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23099432|PMID:23253043|PMID:23613326|PMID:24033266|PMID:24293535|PMID:24621862|PMID:24998021|PMID:25326635|PMID:25644172|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26153420|PMID:26637293|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:28492532|PMID:28652363|PMID:28659821|PMID:29300374|PMID:30341550|PMID:31911919|PMID:9536098 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:1348351 D RGD:7240710 20180130 OMIM 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:1348351 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 | ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI PMID:10532176|PMID:13129918|PMID:14730227|PMID:15138499|PMID:15472996|PMID:16199547|PMID:17576681|PMID:17994018|PMID:19409525|PMID:19639654|PMID:20734336|PMID:20970362|PMID:21212136|PMID:21248741|PMID:21288906|PMID:21733706|PMID:21937134|PMID:22001912|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22753406|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23041370|PMID:23099432|PMID:23253043|PMID:23613326|PMID:24020716|PMID:24033266|PMID:24243736|PMID:24293535|PMID:24621862|PMID:24793577|PMID:24998021|PMID:25326635|PMID:25504618|PMID:25644172|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26153420|PMID:26188975|PMID:26637293|PMID:27146836|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:27567161|PMID:27611364|PMID:28074886|PMID:28492532|PMID:28652363|PMID:28659821|PMID:28848449|PMID:28855619|PMID:29202781|PMID:29300374|PMID:29543232|PMID:29687370|PMID:29867215|PMID:29907982|PMID:30056620|PMID:30341550|PMID:30975232|PMID:31911919|PMID:32093627|PMID:34422331|PMID:36053285|PMID:9536098 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26435214|PMID:26739621 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621676 D RGD:9068941 20220520 RGD associated with Schistosomiasis Japonica; mRNA:increased expression:liver (rat) PMID:29323718|REF_RGD_ID:38599216 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:9002231 Fetal Growth Retardation ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28157488 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:9002928 Colonic Neoplasms ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:9006182 Carotid Artery Injuries ISO RGD:1616012 D RGD:9068941 20230427 RGD protein:decreased expression:vascular smooth muscle cell carotid artery (mouse) PMID:25751394|REF_RGD_ID:329328927 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:9007889 Nephrogenic Fibrosing Dermopathy ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20570839 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:9007900 Multisystemic Smooth Muscle Dysfunction Syndrome ISO RGD:1348351 D RGD:7240710 20180130 OMIM 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:9007900 Multisystemic Smooth Muscle Dysfunction Syndrome ISO RGD:1348351 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTIC ANEURYSM, AND VASCULOPATHY | ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome PMID:10532176|PMID:13129918|PMID:14730227|PMID:15138499|PMID:15472996|PMID:17576681|PMID:17994018|PMID:19409525|PMID:20734336|PMID:20970362|PMID:21248741|PMID:21288906|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23099432|PMID:23253043|PMID:23613326|PMID:24033266|PMID:24293535|PMID:24621862|PMID:24998021|PMID:25326635|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26637293|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:27567161|PMID:28492532|PMID:28652363|PMID:28659821|PMID:29300374|PMID:31911919|PMID:9536098 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:9008510 Chronic Hepatitis ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:1348351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:25741868|PMID:28492532 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:9008691 Liver Injury ISO RGD:621676 D RGD:9068941 20200609 RGD protein:increased expression:hepatic stellate cell:: PMID:24204762|REF_RGD_ID:12879446 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:9008939 Breast Neoplasms ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25330770 11879373 ACTA2 actin alpha 2, smooth muscle gene DOID:9009005 Familial Thoracic Aortic Aneurysm 2 ISO RGD:1348351 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 PMID:17994018|PMID:19409525|PMID:19639654|PMID:21212136|PMID:21248741|PMID:24020716|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29907982 11879386 LOC100987642 histone H2B type 1-O gene DOID:630 genetic disease ISO RGD:1343166 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11879391 MRPS25 mitochondrial ribosomal protein S25 gene DOID:0060417 3p deletion syndrome ISO RGD:1318737 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 11879391 MRPS25 mitochondrial ribosomal protein S25 gene DOID:0112111 combined oxidative phosphorylation deficiency 50 ISO RGD:1318737 D RGD:7240710 20200930 OMIM 11879391 MRPS25 mitochondrial ribosomal protein S25 gene DOID:0112111 combined oxidative phosphorylation deficiency 50 ISO RGD:1318737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 50 PMID:31039582 11879391 MRPS25 mitochondrial ribosomal protein S25 gene DOID:630 genetic disease ISO RGD:1318737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11879399 CAPN6 calpain 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:734276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11879399 CAPN6 calpain 6 gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:734276 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 PMID:28492532 11879399 CAPN6 calpain 6 gene DOID:10283 prostate cancer ISO RGD:734276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11879399 CAPN6 calpain 6 gene DOID:12849 autistic disorder ISO RGD:734276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11879399 CAPN6 calpain 6 gene DOID:5419 schizophrenia ISO RGD:734276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11879399 CAPN6 calpain 6 gene DOID:630 genetic disease ISO RGD:734276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11879416 GARIN5A golgi associated RAB2 interactor 5A gene DOID:630 genetic disease ISO RGD:1604551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11879416 GARIN5A golgi associated RAB2 interactor 5A gene DOID:9007229 Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures ISO RGD:1604551 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and variable seizures PMID:25741868|PMID:35684946 11879427 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:0080600 COVID-19 ISO RGD:736845 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11879427 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:10652 Alzheimer's disease ISO RGD:736845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562|PMID:25741868 11879427 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:11832 visual epilepsy ISO RGD:621241 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus, temporal lobe PMID:12379262|REF_RGD_ID:1566572 11879427 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:224 transient cerebral ischemia ISO RGD:621241 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:16630594|REF_RGD_ID:9681747 11879427 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:2316 brain ischemia ISO RGD:621241 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:17073862|REF_RGD_ID:9681750 11879427 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:736845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19027488 11879427 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:5199 ureteral obstruction ISO RGD:621241 D RGD:9068941 20200609 RGD PMID:17583485|REF_RGD_ID:9681748 11879427 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:5200 urinary tract obstruction ISO RGD:733905 D RGD:9068941 20220825 MouseDO 11879427 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:736845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11879427 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:5844 myocardial infarction ISO RGD:621241 D RGD:9068941 20200609 RGD PMID:15625312|REF_RGD_ID:9681751 11879427 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:630 genetic disease ISO RGD:736845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11879427 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19514085 11879427 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:621241 D RGD:9068941 20200609 RGD mRNA:increased expression:hypoglossal nerve PMID:11311987|REF_RGD_ID:5037239 11879427 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11879427 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23289900 11879427 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:9005930 Endotoxemia ISO RGD:621241 D RGD:9068941 20200609 RGD protein:increased expression:plasma, spleen PMID:23025351|REF_RGD_ID:9681752 11879427 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:621241 D RGD:9068941 20200609 RGD PMID:18272597|REF_RGD_ID:9684850 11879427 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23289900 11879441 DESI2 desumoylating isopeptidase 2 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1603047 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11879441 DESI2 desumoylating isopeptidase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1603047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11879441 DESI2 desumoylating isopeptidase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1603047 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21667029 11879441 DESI2 desumoylating isopeptidase 2 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1603047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:28492532 11879441 DESI2 desumoylating isopeptidase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11879456 FHL2 four and a half LIM domains 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1350947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy 11879456 FHL2 four and a half LIM domains 2 gene DOID:0050700 cardiomyopathy ISO RGD:1350947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:17416352|PMID:24033266|PMID:25741868|PMID:26627873|PMID:28492532|PMID:31333075|PMID:31568572 11879456 FHL2 four and a half LIM domains 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1350947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 11879456 FHL2 four and a half LIM domains 2 gene DOID:12642 hiatus hernia ISO RGD:1350947 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hiatus hernia PMID:25741868 11879456 FHL2 four and a half LIM domains 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1350947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17416352|PMID:17576681|PMID:24033266|PMID:25358972|PMID:25741868|PMID:26627873|PMID:28166811|PMID:28492532|PMID:31333075|PMID:31568572|PMID:9536098 11879456 FHL2 four and a half LIM domains 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1350947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17416352|PMID:17576681|PMID:24033266|PMID:25358972|PMID:25741868|PMID:26627873|PMID:27532257|PMID:28166811|PMID:28492532|PMID:31333075|PMID:31568572|PMID:9536098 11879456 FHL2 four and a half LIM domains 2 gene DOID:630 genetic disease ISO RGD:1350947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11879456 FHL2 four and a half LIM domains 2 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1350947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy 11879456 FHL2 four and a half LIM domains 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11879456 FHL2 four and a half LIM domains 2 gene DOID:9003936 Cardiomegaly ISO RGD:1350947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25358972 11879456 FHL2 four and a half LIM domains 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1350947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682292 11879456 FHL2 four and a half LIM domains 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1350947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11879474 ITSN2 intersectin 2 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1353883 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 11879474 ITSN2 intersectin 2 gene DOID:1184 nephrotic syndrome ISO RGD:1558192 D RGD:9068941 20220825 MouseDO 11879474 ITSN2 intersectin 2 gene DOID:12894 Sjogren's syndrome ISO RGD:1353883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 11879474 ITSN2 intersectin 2 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1353883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:25741868 11879474 ITSN2 intersectin 2 gene DOID:630 genetic disease ISO RGD:1353883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11879474 ITSN2 intersectin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11879474 ITSN2 intersectin 2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1353883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 11879474 ITSN2 intersectin 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1353883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 11879546 ZNF567 zinc finger protein 567 gene DOID:630 genetic disease ISO RGD:1346041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11879585 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:13207 proliferative diabetic retinopathy disease_progression ISO RGD:734409 D RGD:9068941 20200609 RGD protein:decreased expression:vitreous: PMID:22864860|REF_RGD_ID:9685437 11879585 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:734409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11879585 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:206 hereditary multiple exostoses ISO RGD:734409 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 11879585 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:2237 hepatitis ISO RGD:734409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17850827 11879585 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:630 genetic disease ISO RGD:734409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11879585 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:734409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 11879585 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9001191 Cadmium Poisoning ISO RGD:69298 D RGD:9068941 20200609 RGD protein:increased activity:plasma: PMID:24361405|REF_RGD_ID:9685430 11879585 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69298 D RGD:9068941 20200609 RGD protein:increased activity:serum: PMID:17850827|REF_RGD_ID:9685426 11879585 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 11879585 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:69298 D RGD:9068941 20200609 RGD PMID:20957682|REF_RGD_ID:9685427 11879585 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9002211 Hyperalgesia treatment ISO RGD:69298 D RGD:9068941 20200609 RGD PMID:20392816|REF_RGD_ID:9685429 11879585 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9003996 Birth Weight ISO RGD:734409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23866971 11879585 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:734409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 11879585 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69298 D RGD:9068941 20200609 RGD protein:decreased expression:retina: PMID:22864860|REF_RGD_ID:9685437 11879585 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:69298 D RGD:9068941 20200609 RGD protein:increased activity:serum: PMID:17850827|REF_RGD_ID:9685426 11879585 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9008691 Liver Injury ISO RGD:69298 D RGD:9068941 20200609 RGD protein:increased activity:serum: PMID:17850827|REF_RGD_ID:9685426 11879622 MARCHF2 membrane associated ring-CH-type finger 2 gene DOID:0080490 mucolipidosis type IV ISO RGD:1351107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 11879622 MARCHF2 membrane associated ring-CH-type finger 2 gene DOID:12849 autistic disorder ISO RGD:1351107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11879634 RWDD2A RWD domain containing 2A gene DOID:0111953 immunodeficiency 23 ISO RGD:1314728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 23 PMID:24931394 11879634 RWDD2A RWD domain containing 2A gene DOID:630 genetic disease ISO RGD:1314728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11879641 KL klotho gene DOID:0050459 hyperphosphatemia ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17710231 11879641 KL klotho gene DOID:0111063 hyperphosphatemic familial tumoral calcinosis ISO RGD:732783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome 11879641 KL klotho gene DOID:10003 sensorineural hearing loss ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:21167925|REF_RGD_ID:10403058 11879641 KL klotho gene DOID:10584 retinitis pigmentosa ISO RGD:620396 D RGD:9068941 20200609 RGD protein:increased expression:retina,photoreceptor,nucleus: PMID:23796581|REF_RGD_ID:10403060 11879641 KL klotho gene DOID:10584 retinitis pigmentosa ISO RGD:732784 D RGD:9068941 20200609 RGD protein:increased expression:retina,photoreceptor,nucleus: PMID:23796581|REF_RGD_ID:10403060 11879641 KL klotho gene DOID:10652 Alzheimer's disease treatment ISO RGD:732784 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:cerebral choroid,serum: PMID:23973442|REF_RGD_ID:10403049 11879641 KL klotho gene DOID:1074 kidney failure ISO RGD:620396 D RGD:9068941 20200609 RGD PMID:10892340|REF_RGD_ID:1581732 11879641 KL klotho gene DOID:10763 hypertension ISO RGD:620396 D RGD:9068941 20200609 RGD PMID:10892340|REF_RGD_ID:1581732 11879641 KL klotho gene DOID:10763 hypertension treatment ISO RGD:620396 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:kidney: PMID:21051829|REF_RGD_ID:10403063 11879641 KL klotho gene DOID:10763 hypertension treatment ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:23225045|REF_RGD_ID:10403062 11879641 KL klotho gene DOID:11476 osteoporosis ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9363890 11879641 KL klotho gene DOID:11476 osteoporosis ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:9363890|REF_RGD_ID:10403047 11879641 KL klotho gene DOID:1168 familial hyperlipidemia ISO RGD:620396 D RGD:9068941 20200609 RGD PMID:10892340|REF_RGD_ID:1581732 11879641 KL klotho gene DOID:12466 secondary hyperparathyroidism ISO RGD:620396 D RGD:9068941 20200609 RGD associated with Uremia;mRNA,protein:increased expression:parathyroid gland: PMID:20631679|REF_RGD_ID:10403078 11879641 KL klotho gene DOID:12678 hypercalcemia ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17710231 11879641 KL klotho gene DOID:13938 amenorrhea ISO RGD:732783 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:25741868|PMID:32870266 11879641 KL klotho gene DOID:182 calcinosis ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17710231 11879641 KL klotho gene DOID:1936 atherosclerosis ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:11027545|REF_RGD_ID:10403056 11879641 KL klotho gene DOID:2247 spondylosis susceptibility ISO RGD:732783 D RGD:9068941 20200609 RGD PMID:12110410|REF_RGD_ID:10403053 11879641 KL klotho gene DOID:2277 gonadal disease ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:9363890|REF_RGD_ID:10403047 11879641 KL klotho gene DOID:2349 arteriosclerosis ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9363890 11879641 KL klotho gene DOID:2349 arteriosclerosis ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:9363890|REF_RGD_ID:10403047 11879641 KL klotho gene DOID:3393 coronary artery disease ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12669274 11879641 KL klotho gene DOID:3393 coronary artery disease ISO RGD:732783 D RGD:9068941 20200609 RGD PMID:16979405|REF_RGD_ID:1581721 11879641 KL klotho gene DOID:3393 coronary artery disease ISO RGD:732783 D RGD:9068941 20200806 RGD DNA:SNP:promoter: -G395>A (human) PMID:16579981|REF_RGD_ID:1581723 11879641 KL klotho gene DOID:37 skin disease ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9363890 11879641 KL klotho gene DOID:4372 intracranial embolism susceptibility ISO RGD:732783 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-395G>A(human) PMID:16973281|REF_RGD_ID:10403059 11879641 KL klotho gene DOID:5223 infertility ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9363890 11879641 KL klotho gene DOID:557 kidney disease ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23665422 11879641 KL klotho gene DOID:630 genetic disease ISO RGD:732783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32870266 11879641 KL klotho gene DOID:783 end stage renal disease ISO RGD:620396 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney: PMID:9731228|REF_RGD_ID:10403067 11879641 KL klotho gene DOID:783 end stage renal disease ISO RGD:732783 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:kidney: PMID:11162628|REF_RGD_ID:10403042 11879641 KL klotho gene DOID:784 chronic kidney disease ISO RGD:620396 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:renal tubule, epithelial cell: PMID:11967236|REF_RGD_ID:70544 11879641 KL klotho gene DOID:784 chronic kidney disease disease_progression ISO RGD:732783 D RGD:9068941 20200609 RGD protein:decreased expression:urine: PMID:21115613|REF_RGD_ID:10403077 11879641 KL klotho gene DOID:784 chronic kidney disease treatment ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:11967236|REF_RGD_ID:70544 11879641 KL klotho gene DOID:8927 learning disability ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25309793 11879641 KL klotho gene DOID:9000099 Experimental Colitis ISO RGD:732784 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney: PMID:20004202|REF_RGD_ID:10403055 11879641 KL klotho gene DOID:9001035 Hypercalciuria, Childhood Idiopathic ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20394945 11879641 KL klotho gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:620396 D RGD:9068941 20200609 RGD protein:decreased expression:kidney: PMID:24136780|REF_RGD_ID:10403079 11879641 KL klotho gene DOID:9002331 Knee Osteoarthritis susceptibility ISO RGD:732783 D RGD:9068941 20200609 RGD DNA:SNPs:promoter,exon:395G>A,2998C>T(human) PMID:18465812|REF_RGD_ID:10403041 11879641 KL klotho gene DOID:9002644 Premature Aging ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25550330|PMID:9363890 11879641 KL klotho gene DOID:9002644 Premature Aging ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:9363890|REF_RGD_ID:10403047 11879641 KL klotho gene DOID:9002884 Emphysema ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9363890 11879641 KL klotho gene DOID:9002884 Emphysema ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:9363890|REF_RGD_ID:10403047 11879641 KL klotho gene DOID:9003846 Sinoatrial Block ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:15037532|REF_RGD_ID:1581730 11879641 KL klotho gene DOID:9003936 Cardiomegaly treatment ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:23225045|REF_RGD_ID:10403062 11879641 KL klotho gene DOID:9005366 Hyperphosphatemic Familial Tumoral Calcinosis 3 ISO RGD:732783 D RGD:7240710 20190315 OMIM 11879641 KL klotho gene DOID:9005366 Hyperphosphatemic Familial Tumoral Calcinosis 3 ISO RGD:732783 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 3 PMID:17710231|PMID:25741868|PMID:28492532|PMID:29389098|PMID:32870266 11879641 KL klotho gene DOID:9006205 Animal Disease Models ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25550330 11879641 KL klotho gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:620396 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:renal tubule: PMID:16204278|REF_RGD_ID:10403064 11879641 KL klotho gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:16204278|REF_RGD_ID:10403064 11879641 KL klotho gene DOID:9006332 Vascular Calcification ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:21115613|REF_RGD_ID:10403077 11879641 KL klotho gene DOID:9006646 Metabolic Syndrome ISO RGD:620396 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney: PMID:11027545|REF_RGD_ID:10403056 11879641 KL klotho gene DOID:9006646 Metabolic Syndrome ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:11027545|REF_RGD_ID:10403056 11879641 KL klotho gene DOID:9007094 Hypercalcemia, Infantile, 1 ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20394945 11879641 KL klotho gene DOID:9007096 Stroke ISO RGD:732783 D RGD:9068941 20200609 RGD PMID:15677572|REF_RGD_ID:1581727 11879641 KL klotho gene DOID:9007367 Septic Peritonitis disease_progression ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:23364432|REF_RGD_ID:10403048 11879641 KL klotho gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:732783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:17710231|PMID:25741868|PMID:29389098 11879641 KL klotho gene DOID:9008023 Memory Disorders ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25309793|PMID:25550330 11879641 KL klotho gene DOID:9352 type 2 diabetes mellitus ISO RGD:620396 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney: PMID:23967103|REF_RGD_ID:10044235 11879641 KL klotho gene DOID:9352 type 2 diabetes mellitus ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 11879641 KL klotho gene DOID:9675 pulmonary emphysema ISO RGD:732784 D RGD:9068941 20220825 MouseDO OMIM:130700 11879641 Kl klotho gene DOID:784 chronic kidney disease ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:21115613|REF_RGD_ID:10403077 11879653 CADM3 cell adhesion molecule 3 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1315991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11879653 CADM3 cell adhesion molecule 3 gene DOID:10283 prostate cancer ISO RGD:1315991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11879653 CADM3 cell adhesion molecule 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1315991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11879653 CADM3 cell adhesion molecule 3 gene DOID:630 genetic disease ISO RGD:1315991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11879653 CADM3 cell adhesion molecule 3 gene DOID:9001481 Charcot-Marie-Tooth Disease Axonal Type 2FF ISO RGD:1315991 D RGD:7240710 20210929 OMIM 11879653 CADM3 cell adhesion molecule 3 gene DOID:9001481 Charcot-Marie-Tooth Disease Axonal Type 2FF ISO RGD:1315991 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2FF PMID:25741868|PMID:33889941 11879653 CADM3 cell adhesion molecule 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11879678 PBRM1 polybromo 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1605656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 11879678 PBRM1 polybromo 1 gene DOID:3275 thymoma ISO RGD:1605656 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24974848 11879678 PBRM1 polybromo 1 gene DOID:3495 extrahepatic bile duct adenocarcinoma disease_progression ISO RGD:1605656 D RGD:9068941 20210827 RGD PMID:25536104|REF_RGD_ID:150340631 11879678 PBRM1 polybromo 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1605656 D RGD:9068941 20210827 RGD PMID:32195359|REF_RGD_ID:150340625 11879678 PBRM1 polybromo 1 gene DOID:4450 renal cell carcinoma ISO RGD:1605656 D RGD:7240710 20210707 OMIM 11879678 PBRM1 polybromo 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1605656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:25911086 11879678 PBRM1 polybromo 1 gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:1605656 D RGD:9068941 20210827 RGD PMID:27864835|REF_RGD_ID:150340628 11879678 PBRM1 polybromo 1 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1605656 D RGD:9068941 20220708 RGD protein:increased expression:intrahepatic bile duct (human) PMID:30377796|REF_RGD_ID:152998946 11879678 PBRM1 polybromo 1 gene DOID:4947 cholangiocarcinoma ISO RGD:1605656 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24185509 11879678 PBRM1 polybromo 1 gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:1605656 D RGD:9068941 20210827 RGD PMID:29748005|REF_RGD_ID:127285383 11879678 PBRM1 polybromo 1 gene DOID:8778 Crohn's disease ISO RGD:1605656 D RGD:9068941 20210827 RGD mRNA:decreased expression:colon PMID:28940253|REF_RGD_ID:150340627 11879678 PBRM1 polybromo 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1565549 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:heart left ventricle PMID:23702776|REF_RGD_ID:9586349 11879678 PBRM1 polybromo 1 gene DOID:9256 colorectal cancer severity ISO RGD:1605656 D RGD:9068941 20210827 RGD PMID:28940253|REF_RGD_ID:150340627 11879732 HABP2 hyaluronan binding protein 2 gene DOID:0111907 thrombophilia due to thrombin defect ISO RGD:1350340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombophilia due to thrombin defect PMID:25741868|PMID:28492532 11879732 HABP2 hyaluronan binding protein 2 gene DOID:0111907 thrombophilia due to thrombin defect susceptibility ISO RGD:1350340 D RGD:7240710 20230505 OMIM 11879732 HABP2 hyaluronan binding protein 2 gene DOID:2452 thrombophilia ISO RGD:1350340 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 11879732 HABP2 hyaluronan binding protein 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1302979 D RGD:9068941 20200609 RGD PMID:20818495|REF_RGD_ID:11353855 11879732 HABP2 hyaluronan binding protein 2 gene DOID:630 genetic disease ISO RGD:1350340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11879732 HABP2 hyaluronan binding protein 2 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1302979 D RGD:9068941 20200609 RGD associated with Thyroid Neoplasms PMID:22715430|REF_RGD_ID:11353856 11879732 HABP2 hyaluronan binding protein 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:1350340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11879732 HABP2 hyaluronan binding protein 2 gene DOID:9003505 Venous Thromboembolism ISO RGD:1350340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Venous thromboembolism, susceptibility to PMID:12138371|PMID:12578864|PMID:15486068|PMID:26222560|PMID:26581001|PMID:26581002|PMID:26581003|PMID:26581004|PMID:26581005 11879732 HABP2 hyaluronan binding protein 2 gene DOID:9003505 Venous Thromboembolism disease_progression ISO RGD:1350340 D RGD:9068941 20200609 RGD DNA:SNP: :p.G534E (rs7080536) (human) PMID:22421107|REF_RGD_ID:11353820 11879732 HABP2 hyaluronan binding protein 2 gene DOID:9003871 Venous Thrombosis ISO RGD:1350340 D RGD:9068941 20200609 RGD DNA:SNP: :p.G534E (rs7080536) (human) PMID:22421107|REF_RGD_ID:11353820 11879732 HABP2 hyaluronan binding protein 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1302979 D RGD:9068941 20200609 RGD PMID:22715430|REF_RGD_ID:11353856 11879732 HABP2 hyaluronan binding protein 2 gene DOID:9005359 Hereditary Thrombophilia ISO RGD:1350340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Factor VII Marburg I Variant Thrombophilia PMID:12138371|PMID:12578864|PMID:15486068|PMID:25741868|PMID:26222560|PMID:26581001|PMID:26581002|PMID:26581003|PMID:26581004|PMID:26581005|PMID:28492532 11879732 HABP2 hyaluronan binding protein 2 gene DOID:9007597 Thyroid Cancer, Nonmedullary, 5 ISO RGD:1350340 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 5, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 5 PMID:12138371|PMID:12578864|PMID:15486068|PMID:25741868|PMID:26222560|PMID:26581001|PMID:26581002|PMID:26581003|PMID:26581004|PMID:26581005 11879732 HABP2 hyaluronan binding protein 2 gene DOID:9007597 Thyroid Cancer, Nonmedullary, 5 susceptibility ISO RGD:1350340 D RGD:7240710 20230505 OMIM 11879749 TMEM202 transmembrane protein 202 gene DOID:0110225 Brugada syndrome 8 ISO RGD:2289768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 11879749 TMEM202 transmembrane protein 202 gene DOID:2717 Bloom syndrome ISO RGD:2289768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11879749 TMEM202 transmembrane protein 202 gene DOID:3320 Tay-Sachs disease ISO RGD:2289768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 11879749 TMEM202 transmembrane protein 202 gene DOID:630 genetic disease ISO RGD:2289768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11879749 TMEM202 transmembrane protein 202 gene DOID:9256 colorectal cancer ISO RGD:2289768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11879757 NPNT nephronectin gene DOID:0080200 bilateral renal aplasia ISO RGD:1614982 D RGD:9068941 20220825 MouseDO 11879757 NPNT nephronectin gene DOID:630 genetic disease ISO RGD:1604498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11879791 LOC100988671 histone H3.3A gene DOID:2649 chondroblastoma ISO RGD:733608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24162739 11879791 LOC100988671 histone H3.3A gene DOID:305 carcinoma ISO RGD:733609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11879791 LOC100988671 histone H3.3A gene DOID:630 genetic disease ISO RGD:733608 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:33268356|PMID:34876591 11879791 LOC100988671 histone H3.3A gene DOID:9000402 Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 ISO RGD:733608 D RGD:7240710 20220223 OMIM 11879791 LOC100988671 histone H3.3A gene DOID:9000402 Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 ISO RGD:733608 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Bryant-Li-Bhoj neurodevelopmental syndrome 2 PMID:25741868|PMID:33268356|PMID:34876591 11879791 LOC100988671 histone H3.3A gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11879791 LOC100988671 histone H3.3A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11879791 LOC100988671 histone H3.3A gene DOID:9008086 Developmental Disabilities ISO RGD:733608 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:33268356|PMID:34876591 11879802 PHAF1 phagosome assembly factor 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1604592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11879802 PHAF1 phagosome assembly factor 1 gene DOID:0110255 cataract 5 multiple types ISO RGD:1604592 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 11879826 LOC100995131 olfactory receptor 5B21 gene DOID:1059 intellectual disability ISO RGD:1345076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11879826 LOC100995131 olfactory receptor 5B21 gene DOID:630 genetic disease ISO RGD:1345076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11879860 PLXNC1 plexin C1 gene DOID:0111125 nephronophthisis 18 ISO RGD:1316607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis 18 PMID:28492532 11879860 PLXNC1 plexin C1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1316607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 11879860 PLXNC1 plexin C1 gene DOID:289 endometriosis ISO RGD:1316607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11879860 PLXNC1 plexin C1 gene DOID:630 genetic disease ISO RGD:1316607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11879896 LOC100968122 olfactory receptor 5C1 gene DOID:630 genetic disease ISO RGD:1604145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11879912 KCTD16 potassium channel tetramerization domain containing 16 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1320838 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11879912 KCTD16 potassium channel tetramerization domain containing 16 gene DOID:630 genetic disease ISO RGD:1320838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11879912 KCTD16 potassium channel tetramerization domain containing 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11879912 KCTD16 potassium channel tetramerization domain containing 16 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320838 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11879923 TCTN3 tectonic family member 3 gene DOID:0060027 agammaglobulinemia 4 ISO RGD:1313033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive PMID:28492532 11879923 TCTN3 tectonic family member 3 gene DOID:0060374 orofaciodigital syndrome IV ISO RGD:1313033 D RGD:7240710 20180130 OMIM 11879923 TCTN3 tectonic family member 3 gene DOID:0060374 orofaciodigital syndrome IV ISO RGD:1313033 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Orofacial-digital syndrome IV PMID:16199547|PMID:17576681|PMID:22883145|PMID:24033266|PMID:25118024|PMID:25741868|PMID:26092869|PMID:2692869|PMID:27377014|PMID:28333917|PMID:28492532|PMID:28771248|PMID:30976395|PMID:33098376|PMID:9536098 11879923 TCTN3 tectonic family member 3 gene DOID:0110987 Joubert Syndrome 18 ISO RGD:1313033 D RGD:7240710 20180130 OMIM 11879923 TCTN3 tectonic family member 3 gene DOID:0110987 Joubert Syndrome 18 ISO RGD:1313033 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Joubert syndrome 18 PMID:22883145|PMID:25741868|PMID:26092869|PMID:27377014|PMID:28492532|PMID:28771248 11879923 TCTN3 tectonic family member 3 gene DOID:2843 long QT syndrome ISO RGD:1313033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11879923 TCTN3 tectonic family member 3 gene DOID:630 genetic disease ISO RGD:1313033 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22883145|PMID:25118024|PMID:25741868|PMID:2692869|PMID:28492532 11879923 TCTN3 tectonic family member 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1313033 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 11879945 ZNF239 zinc finger protein 239 gene DOID:630 genetic disease ISO RGD:1351594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11879973 CAPNS2 calpain small subunit 2 gene DOID:630 genetic disease ISO RGD:1345503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11879978 CRYM crystallin mu gene DOID:0110566 autosomal dominant nonsyndromic deafness 40 ISO RGD:734218 D RGD:7240710 20180130 OMIM 11879978 CRYM crystallin mu gene DOID:0110566 autosomal dominant nonsyndromic deafness 40 ISO RGD:734218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 40 PMID:12471561|PMID:24033266|PMID:25741868|PMID:28492532 11879978 CRYM crystallin mu gene DOID:6000 congestive heart failure ISO RGD:734218 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 11879978 CRYM crystallin mu gene DOID:630 genetic disease ISO RGD:734218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11879978 CRYM crystallin mu gene DOID:9008681 Deafness ISO RGD:734218 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.K314T (human) PMID:12471561|REF_RGD_ID:734836 11879978 CRYM crystallin mu gene DOID:936 brain disease ISO RGD:734218 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 4 PMID:24033266|PMID:25741868|PMID:28492532 11879990 DENND2C DENN domain containing 2C gene DOID:0080690 RASopathy ISO RGD:1604979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11879990 DENND2C DENN domain containing 2C gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1604979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 11879990 DENND2C DENN domain containing 2C gene DOID:630 genetic disease ISO RGD:1604979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880013 DGKK diacylglycerol kinase kappa gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11880013 DGKK diacylglycerol kinase kappa gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1603361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 11880013 DGKK diacylglycerol kinase kappa gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1603361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11880013 DGKK diacylglycerol kinase kappa gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1603361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11880013 DGKK diacylglycerol kinase kappa gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1603361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11880013 DGKK diacylglycerol kinase kappa gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1603361 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 11880013 DGKK diacylglycerol kinase kappa gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1603361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 11880013 DGKK diacylglycerol kinase kappa gene DOID:10892 hypospadias ISO RGD:1603361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21113153|PMID:27098078 11880013 DGKK diacylglycerol kinase kappa gene DOID:12849 autistic disorder ISO RGD:1603361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11880013 DGKK diacylglycerol kinase kappa gene DOID:630 genetic disease ISO RGD:1603361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880045 SNX33 sorting nexin 33 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1603528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 11880045 SNX33 sorting nexin 33 gene DOID:1826 epilepsy ISO RGD:1603528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11880045 SNX33 sorting nexin 33 gene DOID:2717 Bloom syndrome ISO RGD:1603528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11880045 SNX33 sorting nexin 33 gene DOID:5419 schizophrenia ISO RGD:1603528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11880045 SNX33 sorting nexin 33 gene DOID:630 genetic disease ISO RGD:1603528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880045 SNX33 sorting nexin 33 gene DOID:9256 colorectal cancer ISO RGD:1603528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11880057 CFAP161 cilia and flagella associated protein 161 gene DOID:2717 Bloom syndrome ISO RGD:1321239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11880057 CFAP161 cilia and flagella associated protein 161 gene DOID:630 genetic disease ISO RGD:1321239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880057 CFAP161 cilia and flagella associated protein 161 gene DOID:9256 colorectal cancer ISO RGD:1321239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11880068 DYNLRB1 dynein light chain roadblock-type 1 gene DOID:2843 long QT syndrome ISO RGD:734301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11880068 DYNLRB1 dynein light chain roadblock-type 1 gene DOID:630 genetic disease ISO RGD:734301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880068 DYNLRB1 dynein light chain roadblock-type 1 gene DOID:684 hepatocellular carcinoma ISO RGD:734301 D RGD:9068941 20200609 RGD PMID:11750132|REF_RGD_ID:13208527 11880087 ZFHX2 zinc finger homeobox 2 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1351762 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11880087 ZFHX2 zinc finger homeobox 2 gene DOID:0081075 Marsili syndrome ISO RGD:1351762 D RGD:7240710 20200311 OMIM 11880087 ZFHX2 zinc finger homeobox 2 gene DOID:0081075 Marsili syndrome ISO RGD:1351762 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal dominant PMID:25741868|PMID:29253101 11880087 ZFHX2 zinc finger homeobox 2 gene DOID:630 genetic disease ISO RGD:1351762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880087 ZFHX2 zinc finger homeobox 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1351762 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11880087 ZFHX2 zinc finger homeobox 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1351762 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11880106 CRYBG1 crystallin beta-gamma domain containing 1 gene DOID:1909 melanoma ISO RGD:1318513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22402438 11880106 CRYBG1 crystallin beta-gamma domain containing 1 gene DOID:630 genetic disease ISO RGD:1318513 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880106 CRYBG1 crystallin beta-gamma domain containing 1 gene DOID:9000918 Disease Progression ISO RGD:1318513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22402438 11880106 CRYBG1 crystallin beta-gamma domain containing 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1318513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11880132 TUBB1 tubulin beta 1 class VI gene DOID:0050328 congenital hypothyroidism ISO RGD:1345439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:25741868|PMID:28492532|PMID:28983057|PMID:30446499|PMID:32757236 11880132 TUBB1 tubulin beta 1 class VI gene DOID:0060651 MYH-9 related disease ISO RGD:1345439 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss PMID:25741868 11880132 TUBB1 tubulin beta 1 class VI gene DOID:0090102 autosomal dominant macrothrombocytopenia TUBB1-related ISO RGD:1345439 D RGD:7240710 20180130 OMIM 11880132 TUBB1 tubulin beta 1 class VI gene DOID:0090102 autosomal dominant macrothrombocytopenia TUBB1-related ISO RGD:1345439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macrothrombocytopenia, isolated, 1, autosomal dominant PMID:18849486|PMID:24344610|PMID:24777453|PMID:25741868|PMID:27346686|PMID:27479822|PMID:28054583|PMID:28492532|PMID:28983057|PMID:30446499|PMID:31064749|PMID:31249973|PMID:31565851|PMID:32757236|PMID:32892537|PMID:33400601|PMID:34355501|PMID:34516618 11880132 TUBB1 tubulin beta 1 class VI gene DOID:1588 thrombocytopenia ISO RGD:1345439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:24777453|PMID:25741868|PMID:27346686|PMID:28054583|PMID:28492532|PMID:31064749|PMID:31249973|PMID:32757236|PMID:34516618 11880132 TUBB1 tubulin beta 1 class VI gene DOID:2213 hemorrhagic disease ISO RGD:1345439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:18849486|PMID:25741868|PMID:27479822|PMID:28492532|PMID:32892537|PMID:32935436|PMID:33400601 11880132 TUBB1 tubulin beta 1 class VI gene DOID:630 genetic disease ISO RGD:1345439 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11880132 TUBB1 tubulin beta 1 class VI gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1345439 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 11880140 TTPAL alpha tocopherol transfer protein like gene DOID:2234 focal epilepsy ISO RGD:1313976 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11880140 TTPAL alpha tocopherol transfer protein like gene DOID:630 genetic disease ISO RGD:1313976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880140 TTPAL alpha tocopherol transfer protein like gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1313976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:0050700 cardiomyopathy ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10620750 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:0050861 colorectal adenocarcinoma treatment ISO RGD:619570 D RGD:9068941 20200609 RGD PMID:25405740|REF_RGD_ID:13210782 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:0060001 withdrawal disorder ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17549049 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:0060019 coronin-1A deficiency ISO RGD:619570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:28492532 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:619570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:619570 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:619570 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:0080599 Coronavirus infectious disease ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20484496 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:619570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23516525 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:619570 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:10652 Alzheimer's disease treatment ISO RGD:619571 D RGD:9068941 20200609 RGD PMID:28079060|REF_RGD_ID:13800563 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:10808 gastric ulcer ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:25518106|REF_RGD_ID:13800896 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:12098 trigeminal neuralgia ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:12849 autistic disorder ISO RGD:619570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:13619 extrahepatic cholestasis ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:1749 squamous cell carcinoma ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:1882 atrial heart septal defect ISO RGD:619570 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:2316 brain ischemia ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17901229 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:234 colon adenocarcinoma ISO RGD:619570 D RGD:9068941 20200609 RGD PMID:24691442|REF_RGD_ID:13210775 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:2870 endometrial adenocarcinoma ISO RGD:619570 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:endometrium (human) PMID:14760076|REF_RGD_ID:13703137 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:2870 endometrial adenocarcinoma treatment ISO RGD:619570 D RGD:9068941 20200609 RGD human tumor in a mouse model PMID:23402905|REF_RGD_ID:13703125 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:2871 endometrial carcinoma ISO RGD:619570 D RGD:9068941 20200609 RGD protein:increased expression:endometrium (human) PMID:29081408|REF_RGD_ID:13702082 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:2871 endometrial carcinoma severity ISO RGD:619570 D RGD:9068941 20200609 RGD protein:increased phosphorylation:endometrium (human) PMID:22459351|REF_RGD_ID:13441552 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:2945 severe acute respiratory syndrome ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20484496 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:3070 high grade glioma ISO RGD:619571 D RGD:9068941 20200609 RGD PMID:27256374|REF_RGD_ID:13702865 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:27152455|REF_RGD_ID:13800881 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:3587 pancreatic ductal carcinoma treatment ISO RGD:619570 D RGD:9068941 20200609 RGD human cells in mouse model PMID:20179210|REF_RGD_ID:14348973 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:5199 ureteral obstruction treatment ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:28063381|REF_RGD_ID:13800569 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:5419 schizophrenia ISO RGD:619570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:630 genetic disease ISO RGD:619570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:6432 pulmonary hypertension treatment ISO RGD:619570 D RGD:9068941 20200609 RGD PMID:25907942|REF_RGD_ID:13800893 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9000040 Hypertrophy ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12237323 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9000099 Experimental Colitis treatment ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:29037916|REF_RGD_ID:13800567 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17003101 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22247605 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22580338 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9001390 Testis Reperfusion Injury treatment ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:15944243|REF_RGD_ID:13800876 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:27396351|REF_RGD_ID:13800880 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24894820 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9002211 Hyperalgesia ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12941468|PMID:27093858 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9002265 Kidney Neoplasms ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21813464 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9002549 Shock treatment ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:29110153|REF_RGD_ID:13800566 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9002762 Ovarian Neoplasms ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16211241 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9002955 Nerve Degeneration ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19911010 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9004265 Endometrioid Carcinomas treatment ISO RGD:619570 D RGD:9068941 20200609 RGD PMID:24917306|REF_RGD_ID:13441559 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9004332 Osteoarthritis, Experimental ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:29364174|REF_RGD_ID:13800565 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:619570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9004462 Atrophy ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16391472 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9004484 Sepsis ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15489642 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22580338 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9005100 Aberrant Crypt Foci ISO RGD:619570 D RGD:9068941 20200609 RGD PMID:23467982|REF_RGD_ID:13210776 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9005172 Lung Neoplasms ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11884234|PMID:12083368 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:29435821|REF_RGD_ID:13800872 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20692647 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3046 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:cornea PMID:21330660|REF_RGD_ID:5131482 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:619570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342401 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9006205 Animal Disease Models ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:619570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:3046 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:25907942|REF_RGD_ID:13800893 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9007402 Gliosis ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19402951 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9007456 Female Infertility ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21177758 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9007692 Insulin Resistance treatment ISO RGD:3046 D RGD:9068941 20200609 RGD associated with polycystic ovary syndrome PMID:23349861|REF_RGD_ID:13800789 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9007715 Endometrial Neoplasms treatment ISO RGD:619570 D RGD:9068941 20200609 RGD PMID:24917306|REF_RGD_ID:13441559 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:28814571|PMID:29741915|REF_RGD_ID:13800564|REF_RGD_ID:13800874 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:25345742|REF_RGD_ID:13800900 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9008086 Developmental Disabilities ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30559488 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:619570 D RGD:9068941 20200609 RGD PMID:10323886|REF_RGD_ID:13210794 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3046 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:pancreas: PMID:27259299|REF_RGD_ID:13506776 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3046 D RGD:9068941 20200609 RGD protein:hypophosphorylation:pancreatic islet: PMID:21911753|REF_RGD_ID:13506785 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:619571 D RGD:9068941 20200609 RGD protein:increased expression:dorsal horn: PMID:28757391|REF_RGD_ID:13506777 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:19164460|REF_RGD_ID:13506786 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:619571 D RGD:9068941 20200609 RGD PMID:26860984|REF_RGD_ID:13506775 11880159 MAPK3 mitogen-activated protein kinase 3 gene DOID:9970 obesity ISO RGD:619570 D RGD:9068941 20200609 RGD protein:increased phosphorylation:endometrium (human) PMID:20074784|REF_RGD_ID:13782055 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:0050562 West syndrome ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:12374766|PMID:15525788|PMID:15800189|PMID:16199547|PMID:17576681|PMID:17881658|PMID:18414213|PMID:19254928|PMID:19465131|PMID:20869590|PMID:22365152|PMID:23020937|PMID:24194747|PMID:24874546|PMID:24888894|PMID:25046240|PMID:25227913|PMID:25239001|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25568300|PMID:25666757|PMID:25725044|PMID:25741868|PMID:25785782|PMID:25849321|PMID:25914188|PMID:25951352|PMID:26029160|PMID:26220391|PMID:26235739|PMID:26297079|PMID:26467025|PMID:26647175|PMID:26900580|PMID:26993267|PMID:27210545|PMID:27659738|PMID:27779742|PMID:27781031|PMID:27864847|PMID:27875746|PMID:27900360|PMID:28387369|PMID:28492532|PMID:28676574|PMID:28702509|PMID:28735751|PMID:28923014|PMID:29100083|PMID:29121005|PMID:29186148|PMID:29432985|PMID:29588952|PMID:29655203|PMID:29720203|PMID:29933521|PMID:30109124|PMID:30171078|PMID:30615093|PMID:30951195|PMID:30968951|PMID:31026061|PMID:31054490|PMID:31618753|PMID:31625145|PMID:32651551|PMID:32920374|PMID:9536098 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:12374766|PMID:15525788|PMID:15800189|PMID:16199547|PMID:17576681|PMID:17881658|PMID:18414213|PMID:19254928|PMID:19465131|PMID:20869590|PMID:22365152|PMID:23020937|PMID:24194747|PMID:24352161|PMID:24874546|PMID:24888894|PMID:25046240|PMID:25227913|PMID:25239001|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25568300|PMID:25666757|PMID:25725044|PMID:25741868|PMID:25785782|PMID:25799905|PMID:25849321|PMID:25914188|PMID:25951352|PMID:26029160|PMID:26220391|PMID:26235739|PMID:26252990|PMID:26297079|PMID:26467025|PMID:26544041|PMID:26647175|PMID:26677014|PMID:26900580|PMID:26993267|PMID:27210545|PMID:27375106|PMID:27659738|PMID:27779742|PMID:27781031|PMID:27864847|PMID:27875746|PMID:27900360|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28676574|PMID:28702509|PMID:28735751|PMID:28923014|PMID:29056246|PMID:29100083|PMID:29121005|PMID:29186148|PMID:29263050|PMID:29356177|PMID:29432985|PMID:29588952|PMID:29655203|PMID:29720203|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30171078|PMID:30185235|PMID:30314295|PMID:30615093|PMID:30951195|PMID:30968951|PMID:31026061|PMID:31054490|PMID:31402610|PMID:31487502|PMID:31618753|PMID:31625145|PMID:31675620|PMID:31887642|PMID:31904124|PMID:32040247|PMID:32651551|PMID:32725632|PMID:32901917|PMID:32916281|PMID:32920374|PMID:33004838|PMID:33201365|PMID:33827760|PMID:33851778|PMID:34431999|PMID:9536098 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:0050753 cerebellar ataxia ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:0050952 spastic ataxia ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:0080445 developmental and epileptic encephalopathy 13 ISO RGD:1351349 D RGD:7240710 20180130 OMIM 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:0080445 developmental and epileptic encephalopathy 13 ISO RGD:1351349 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 13 PMID:12374766|PMID:15525788|PMID:15800189|PMID:17576681|PMID:17881658|PMID:18414213|PMID:19465131|PMID:20869590|PMID:22365152|PMID:23020937|PMID:23708187|PMID:23934111|PMID:24194747|PMID:24352161|PMID:24874546|PMID:24888894|PMID:25046240|PMID:25227913|PMID:25239001|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25568300|PMID:25666757|PMID:25725044|PMID:25741868|PMID:25785782|PMID:25799905|PMID:25818041|PMID:25849321|PMID:25914188|PMID:25951352|PMID:26029160|PMID:26220391|PMID:26235738|PMID:26235739|PMID:26252990|PMID:26297079|PMID:26467025|PMID:26647175|PMID:26677014|PMID:26680202|PMID:26900580|PMID:26993267|PMID:27210545|PMID:27375106|PMID:27779742|PMID:27864847|PMID:27875746|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28676574|PMID:28708303|PMID:28735751|PMID:28923014|PMID:29100083|PMID:29186148|PMID:29263050|PMID:29588952|PMID:29655203|PMID:29720203|PMID:30171078|PMID:30185235|PMID:30615093|PMID:31026061|PMID:31680123|PMID:31780880|PMID:31904124|PMID:32581362|PMID:32901917|PMID:32916281|PMID:33201365|PMID:35599849|PMID:9536098 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1351349 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:0081118 benign familial infantile seizures 5 ISO RGD:1351349 D RGD:7240710 20190315 OMIM 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:0081118 benign familial infantile seizures 5 ISO RGD:1351349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5 | ClinVar Annotator: match by term: Seizures, benign familial infantile, 5 PMID:12374766|PMID:17576681|PMID:17881658|PMID:18414213|PMID:22365152|PMID:24194747|PMID:24874546|PMID:24888894|PMID:25326635|PMID:25326637|PMID:25568300|PMID:25666757|PMID:25741868|PMID:25785782|PMID:25951352|PMID:26029160|PMID:26235739|PMID:26467025|PMID:26677014|PMID:26900580|PMID:27210545|PMID:27779742|PMID:27875746|PMID:28492532|PMID:28923014|PMID:29186148|PMID:29720203|PMID:30171078|PMID:30185235|PMID:30615093|PMID:31026061|PMID:31675620|PMID:9536098 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:12374766|PMID:15525788|PMID:15800189|PMID:16199547|PMID:17576681|PMID:17881658|PMID:18414213|PMID:19254928|PMID:19465131|PMID:20869590|PMID:22365152|PMID:23020937|PMID:24194747|PMID:24352161|PMID:24874546|PMID:24888894|PMID:25046240|PMID:25227913|PMID:25239001|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25568300|PMID:25666757|PMID:25725044|PMID:25741868|PMID:25785782|PMID:25799905|PMID:25849321|PMID:25914188|PMID:25951352|PMID:26029160|PMID:26220391|PMID:26235739|PMID:26252990|PMID:26297079|PMID:26467025|PMID:26544041|PMID:26647175|PMID:26677014|PMID:26900580|PMID:26993267|PMID:27210545|PMID:27375106|PMID:27659738|PMID:27779742|PMID:27781031|PMID:27864847|PMID:27875746|PMID:27900360|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28676574|PMID:28702509|PMID:28735751|PMID:28923014|PMID:29056246|PMID:29100083|PMID:29121005|PMID:29186148|PMID:29263050|PMID:29356177|PMID:29432985|PMID:29588952|PMID:29655203|PMID:29720203|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30171078|PMID:30185235|PMID:30314295|PMID:30615093|PMID:30951195|PMID:30968951|PMID:31026061|PMID:31054490|PMID:31402610|PMID:31487502|PMID:31618753|PMID:31625145|PMID:31887642|PMID:31904124|PMID:32040247|PMID:32651551|PMID:32725632|PMID:32901917|PMID:32916281|PMID:32920374|PMID:33004838|PMID:33201365|PMID:33827760|PMID:33851778|PMID:34431999|PMID:9536098 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:12374766|PMID:15525788|PMID:15800189|PMID:16199547|PMID:17576681|PMID:17881658|PMID:18414213|PMID:19254928|PMID:19465131|PMID:20869590|PMID:22365152|PMID:23020937|PMID:24194747|PMID:24352161|PMID:24874546|PMID:24888894|PMID:25046240|PMID:25227913|PMID:25239001|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25568300|PMID:25666757|PMID:25725044|PMID:25741868|PMID:25785782|PMID:25799905|PMID:25849321|PMID:25914188|PMID:25951352|PMID:26029160|PMID:26220391|PMID:26235739|PMID:26252990|PMID:26297079|PMID:26467025|PMID:26544041|PMID:26647175|PMID:26677014|PMID:26900580|PMID:26993267|PMID:27210545|PMID:27375106|PMID:27659738|PMID:27779742|PMID:27781031|PMID:27864847|PMID:27875746|PMID:27900360|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28676574|PMID:28702509|PMID:28735751|PMID:28923014|PMID:29056246|PMID:29100083|PMID:29121005|PMID:29186148|PMID:29263050|PMID:29356177|PMID:29432985|PMID:29588952|PMID:29655203|PMID:29720203|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30171078|PMID:30185235|PMID:30314295|PMID:30615093|PMID:30951195|PMID:30968951|PMID:31026061|PMID:31054490|PMID:31402610|PMID:31487502|PMID:31618753|PMID:31625145|PMID:31675620|PMID:31887642|PMID:31904124|PMID:32040247|PMID:32651551|PMID:32725632|PMID:32901917|PMID:32916281|PMID:32920374|PMID:33004838|PMID:33201365|PMID:33827760|PMID:33851778|PMID:34431999|PMID:9536098 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:0112367 Coffin-Siris syndrome 8 ISO RGD:1351349 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 8 PMID:25741868 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:1059 intellectual disability ISO RGD:1351349 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:28492532 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:1059 intellectual disability ISO RGD:1351349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:27900360|PMID:28492532|PMID:30109124 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:11832 visual epilepsy ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26993267|PMID:28492532|PMID:29432985|PMID:31625145|PMID:32581362 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:12849 autistic disorder ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic disorder PMID:25741868|PMID:28492532 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:1824 status epilepticus ISO RGD:1351349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19306853 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:1826 epilepsy ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:26677014|PMID:26993267|PMID:27864847|PMID:28492532|PMID:28923014|PMID:29432985|PMID:30171078|PMID:30615093|PMID:31625145 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:1826 epilepsy ISO RGD:1351349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:18414213|PMID:24888894|PMID:25741868|PMID:26677014|PMID:26993267|PMID:27210545|PMID:27864847|PMID:28492532|PMID:28923014|PMID:29432985|PMID:30171078|PMID:30185235|PMID:30615093|PMID:31625145|PMID:32581362 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:2234 focal epilepsy ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal epilepsy | ClinVar Annotator: match by term: Focal seizures with impairment of consciousness or awareness PMID:18414213|PMID:25741868|PMID:27210545|PMID:28492532 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:3327 partial motor epilepsy ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal clonic seizure PMID:25741868 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:3652 Leigh disease ISO RGD:1351349 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:6000 congestive heart failure ISO RGD:3638 D RGD:9068941 20200609 RGD mRNA:increased expression:ventricle myocardium PMID:19584134|REF_RGD_ID:6484224 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:630 genetic disease ISO RGD:1351349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10798388|PMID:12374766|PMID:15525788|PMID:15800189|PMID:17881658|PMID:18414213|PMID:19254928|PMID:19465131|PMID:20869590|PMID:22365152|PMID:23020937|PMID:24194747|PMID:24874546|PMID:24888894|PMID:25046240|PMID:25326635|PMID:25326637|PMID:25568300|PMID:25666757|PMID:25725044|PMID:25741868|PMID:25785782|PMID:26029160|PMID:26220391|PMID:26235739|PMID:26467025|PMID:26680202|PMID:26900580|PMID:26993267|PMID:27779742|PMID:27875746|PMID:28492532|PMID:28702509|PMID:28735751|PMID:28923014|PMID:29100083|PMID:29186148|PMID:29356177|PMID:29588952|PMID:29720203|PMID:29924869|PMID:29933521|PMID:30171078|PMID:31026061|PMID:31054490|PMID:31887642|PMID:32040247|PMID:32651551|PMID:33004838|PMID:33201365|PMID:34431999 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:25741868 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:863 nervous system disease ISO RGD:1351349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15170223 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:9000495 Tremor ISO RGD:1351349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19261867 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1351349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:25741868|PMID:28492532 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:9001793 Generalized Epilepsy ISO RGD:1351349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:24888894|PMID:25568300|PMID:25741868|PMID:25951352|PMID:26029160|PMID:26900580|PMID:27864847|PMID:27900360|PMID:28492532|PMID:28923014|PMID:30109124|PMID:30171078|PMID:30615093 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:9002512 Postherpetic Neuralgia ISO RGD:1351349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23382806 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:9002704 Leukoencephalopathies ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy PMID:25741868|PMID:28492532 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:9002834 Herpesviridae Infections ISO RGD:1351349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23382806 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:9003930 Familial Myoclonus 2 ISO RGD:1351349 D RGD:7240710 20190501 OMIM 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:9003930 Familial Myoclonus 2 ISO RGD:1351349 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoclonus, familial, 2 PMID:25741868|PMID:26467025|PMID:27875746|PMID:28492532|PMID:29726066 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:9004866 Ataxia ISO RGD:1351349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19261867 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:9007 sudden infant death syndrome ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:9007956 Febrile Seizures ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Febrile seizures PMID:25741868|PMID:28492532 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:9008086 Developmental Disabilities ISO RGD:1351349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25725044|PMID:25741868|PMID:27900360|PMID:28492532|PMID:30109124|PMID:31625145|PMID:32581362 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:9008255 Cognitive Impairment with or Without Cerebellar Ataxia ISO RGD:1351349 D RGD:7240710 20180130 OMIM 11880171 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:9008255 Cognitive Impairment with or Without Cerebellar Ataxia ISO RGD:1351349 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA | ClinVar Annotator: match by term: Cognitive impairment with or without cerebellar ataxia PMID:12374766|PMID:16236810|PMID:17881658|PMID:22365152|PMID:25326635|PMID:25326637|PMID:25741868|PMID:25785782|PMID:26235739|PMID:26467025|PMID:26993267|PMID:27659738|PMID:27779742|PMID:27875746|PMID:28492532|PMID:28702509|PMID:28923014|PMID:29100083|PMID:29186148|PMID:29720203|PMID:30171078|PMID:30868116|PMID:30968951|PMID:31618753|PMID:31780880|PMID:33201365|PMID:33851778 11880217 RERG RAS like estrogen regulated growth inhibitor gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1349252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 11880217 RERG RAS like estrogen regulated growth inhibitor gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1349252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 11880217 RERG RAS like estrogen regulated growth inhibitor gene DOID:1612 breast cancer severity ISO RGD:1349252 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:11533059|REF_RGD_ID:1304529 11880217 RERG RAS like estrogen regulated growth inhibitor gene DOID:630 genetic disease ISO RGD:1349252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880227 LAMB3 laminin subunit beta 3 gene DOID:0060737 junctional epidermolysis bullosa Herlitz type ISO RGD:1344175 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz PMID:10577906|PMID:11023379|PMID:11296269|PMID:11298117|PMID:11451332|PMID:11689492|PMID:11810295|PMID:12813757|PMID:15311214|PMID:15373767|PMID:15538630|PMID:15663509|PMID:15725250|PMID:16199547|PMID:16403119|PMID:16439963|PMID:16473856|PMID:16971478|PMID:17476356|PMID:20301304|PMID:21801158|PMID:22931927|PMID:23278291|PMID:24033266|PMID:24947307|PMID:25525159|PMID:25708563|PMID:25741868|PMID:25950805|PMID:27062385|PMID:27375110|PMID:27480391|PMID:28087116|PMID:28392661|PMID:28492532|PMID:28830826|PMID:29334134|PMID:29900604|PMID:30544381|PMID:32484238|PMID:34231856|PMID:7550237|PMID:7698759|PMID:7706760|PMID:8362910|PMID:8541876|PMID:8755931|PMID:8824879|PMID:8983017|PMID:9160387|PMID:9205497|PMID:9242513|PMID:9326326|PMID:9457915|PMID:9579554|PMID:9690563|PMID:9767254|PMID:9856852 11880227 LAMB3 laminin subunit beta 3 gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISO RGD:1344175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type PMID:10577906|PMID:11023379|PMID:11298117|PMID:11451332|PMID:11689492|PMID:12813757|PMID:15311214|PMID:15538630|PMID:15663509|PMID:15725250|PMID:16439963|PMID:16473856|PMID:17115047|PMID:17476356|PMID:21801158|PMID:22931927|PMID:23278291|PMID:24617447|PMID:25708563|PMID:25741868|PMID:27062385|PMID:27375110|PMID:28087116|PMID:28492532|PMID:28830826|PMID:29334134|PMID:30544381|PMID:7698759|PMID:7706760|PMID:8824879|PMID:8983017|PMID:9038345|PMID:9205497|PMID:9242513|PMID:9501007|PMID:9690563|PMID:9767254|PMID:9856855 11880227 LAMB3 laminin subunit beta 3 gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISO RGD:1344175 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type PMID:10577906|PMID:11023379|PMID:11298117|PMID:11451332|PMID:11689492|PMID:12813757|PMID:15311214|PMID:15373767|PMID:15538630|PMID:15663509|PMID:15725250|PMID:16439963|PMID:16473856|PMID:17115047|PMID:17476356|PMID:17576681|PMID:19369679|PMID:20301304|PMID:20574443|PMID:21801158|PMID:22931927|PMID:23278291|PMID:25708563|PMID:25741868|PMID:25950805|PMID:27062385|PMID:27375110|PMID:27480391|PMID:28087116|PMID:28492532|PMID:28830826|PMID:29334134|PMID:29900604|PMID:30046887|PMID:30544381|PMID:7550237|PMID:7698759|PMID:7706760|PMID:8824879|PMID:8983017|PMID:9038345|PMID:9205497|PMID:9242513|PMID:9501007|PMID:9536098|PMID:9690563|PMID:9767254|PMID:9856855 11880227 LAMB3 laminin subunit beta 3 gene DOID:0110054 amelogenesis imperfecta type 1A ISO RGD:1344175 D RGD:7240710 20180130 OMIM 11880227 LAMB3 laminin subunit beta 3 gene DOID:0110054 amelogenesis imperfecta type 1A ISO RGD:1344175 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A PMID:10577906|PMID:11023379|PMID:11298117|PMID:11451332|PMID:11689492|PMID:11810295|PMID:12813757|PMID:15311214|PMID:15373767|PMID:15538630|PMID:15663509|PMID:16199547|PMID:16439963|PMID:16473856|PMID:16674655|PMID:17476356|PMID:17576681|PMID:20301304|PMID:21801158|PMID:23278291|PMID:23632796|PMID:23958762|PMID:24617447|PMID:25708563|PMID:25741868|PMID:25950805|PMID:27062385|PMID:27375110|PMID:27480391|PMID:28492532|PMID:28561256|PMID:28830826|PMID:30544381|PMID:7550237|PMID:7698759|PMID:7706760|PMID:8824879|PMID:8983017|PMID:9160387|PMID:9205497|PMID:9242513|PMID:9536098|PMID:9767254 11880227 LAMB3 laminin subunit beta 3 gene DOID:12849 autistic disorder ISO RGD:1344175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 11880227 LAMB3 laminin subunit beta 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1344175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11880227 LAMB3 laminin subunit beta 3 gene DOID:3209 junctional epidermolysis bullosa ISO RGD:1344175 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa PMID:10577906|PMID:11023379|PMID:11296269|PMID:11298117|PMID:11451332|PMID:11689492|PMID:11810295|PMID:12813757|PMID:15311214|PMID:15373767|PMID:15538630|PMID:15663509|PMID:16199547|PMID:16473856|PMID:17476356|PMID:17576681|PMID:17916201|PMID:19369679|PMID:20301304|PMID:20574443|PMID:21801158|PMID:22931927|PMID:24033266|PMID:24617447|PMID:24947307|PMID:25525159|PMID:25708563|PMID:25741868|PMID:25950805|PMID:27062385|PMID:27375110|PMID:27480391|PMID:28492532|PMID:28561256|PMID:28830826|PMID:29334134|PMID:29900604|PMID:30046887|PMID:32484238|PMID:33274474|PMID:34231856|PMID:7550237|PMID:7698759|PMID:7706760|PMID:8824879|PMID:8983017|PMID:9038345|PMID:9205497|PMID:9242513|PMID:9326326|PMID:9501007|PMID:9536098|PMID:9690563|PMID:9767254|PMID:9856855 11880227 LAMB3 laminin subunit beta 3 gene DOID:3209 junctional epidermolysis bullosa susceptibility ISO RGD:1344175 D RGD:9068941 20200609 RGD DNA:nonsense mutation PMID:7698759|REF_RGD_ID:1600209 11880227 LAMB3 laminin subunit beta 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1344175 D RGD:9068941 20200609 RGD mRNA:increased expression:lung: PMID:10964684|REF_RGD_ID:13793368 11880227 LAMB3 laminin subunit beta 3 gene DOID:5409 lung small cell carcinoma ISO RGD:1344175 D RGD:9068941 20200609 RGD DNA:hyper-methylation:promoter: PMID:12855645|REF_RGD_ID:13793369 11880227 LAMB3 laminin subunit beta 3 gene DOID:630 genetic disease ISO RGD:1344175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31036833 11880227 LAMB3 laminin subunit beta 3 gene DOID:9000850 Junctional Epidermolysis Bullosa 1A, Intermediate ISO RGD:1344175 D RGD:7240710 20220608 OMIM 11880227 LAMB3 laminin subunit beta 3 gene DOID:9001145 Junctional Epidermolysis Bullosa 1B, Severe ISO RGD:1344175 D RGD:7240710 20220608 OMIM 11880227 LAMB3 laminin subunit beta 3 gene DOID:9001600 Wounds and Injuries ISO RGD:1344175 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15541073 11880227 LAMB3 laminin subunit beta 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11880254 DLST dihydrolipoamide S-succinyltransferase gene DOID:1059 intellectual disability ISO RGD:1351694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11880254 DLST dihydrolipoamide S-succinyltransferase gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1351694 D RGD:9068941 20200806 RGD DNA:polymorphisms: : PMID:10227647|REF_RGD_ID:1358587 11880254 DLST dihydrolipoamide S-succinyltransferase gene DOID:630 genetic disease ISO RGD:1351694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880254 DLST dihydrolipoamide S-succinyltransferase gene DOID:9008213 Paragangliomas 7 ISO RGD:1351694 D RGD:7240710 20190710 OMIM 11880254 DLST dihydrolipoamide S-succinyltransferase gene DOID:9008213 Paragangliomas 7 ISO RGD:1351694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paragangliomas 7 PMID:25741868|PMID:30929736 11880273 BTBD16 BTB domain containing 16 gene DOID:10283 prostate cancer ISO RGD:1322924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11880273 BTBD16 BTB domain containing 16 gene DOID:2340 craniosynostosis ISO RGD:1322924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 11880273 BTBD16 BTB domain containing 16 gene DOID:630 genetic disease ISO RGD:1322924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880297 GALP galanin like peptide gene DOID:630 genetic disease ISO RGD:1604259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880297 GALP galanin like peptide gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620187 D RGD:9068941 20200609 RGD PMID:16046316|REF_RGD_ID:2313737 11880297 GALP galanin like peptide gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620187 D RGD:9068941 20200609 RGD mRNA:increased expression:arcuate nucleus, pars posterior PMID:15256810|REF_RGD_ID:2313739 11880297 GALP galanin like peptide gene DOID:9970 obesity ISO RGD:620187 D RGD:9068941 20200609 RGD mRNA:decreased expression:arcuate nucleus PMID:15256810|REF_RGD_ID:2313739 11880310 LMCD1 LIM and cysteine rich domains 1 gene DOID:11502 mitral valve insufficiency ISO RGD:1319043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26301497 11880310 LMCD1 LIM and cysteine rich domains 1 gene DOID:4248 coronary stenosis ISO RGD:1319043 D RGD:9068941 20230413 RGD protein:increased expression:coronary artery PMID:32160773|REF_RGD_ID:243065232 11880310 LMCD1 LIM and cysteine rich domains 1 gene DOID:630 genetic disease ISO RGD:1319043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880310 LMCD1 LIM and cysteine rich domains 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11880310 LMCD1 LIM and cysteine rich domains 1 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1319043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 11880310 LMCD1 LIM and cysteine rich domains 1 gene DOID:988 mitral valve prolapse ISO RGD:1319043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26301497 11880326 SUGCT succinyl-CoA:glutarate-CoA transferase gene DOID:0112246 glutaric acidemia type 3 ISO RGD:1317700 D RGD:7240710 20190315 OMIM 11880326 SUGCT succinyl-CoA:glutarate-CoA transferase gene DOID:0112246 glutaric acidemia type 3 ISO RGD:1317700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaryl-CoA oxidase deficiency PMID:12555941|PMID:18926513|PMID:1909402|PMID:25741868|PMID:28492532 11880326 SUGCT succinyl-CoA:glutarate-CoA transferase gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1317700 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:10441570|PMID:15739154|PMID:18000979|PMID:20672375|PMID:24736735|PMID:28492532|PMID:29236091 11880326 SUGCT succinyl-CoA:glutarate-CoA transferase gene DOID:1793 pancreatic cancer ISO RGD:1317700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098869 11880326 SUGCT succinyl-CoA:glutarate-CoA transferase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11880326 SUGCT succinyl-CoA:glutarate-CoA transferase gene DOID:630 genetic disease ISO RGD:1317700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11880326 SUGCT succinyl-CoA:glutarate-CoA transferase gene DOID:6364 migraine ISO RGD:1317700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23793025 11880326 SUGCT succinyl-CoA:glutarate-CoA transferase gene DOID:9005539 Familial Prostate Cancer ISO RGD:1317700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11880352 ASB6 ankyrin repeat and SOCS box containing 6 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1318216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11880352 ASB6 ankyrin repeat and SOCS box containing 6 gene DOID:630 genetic disease ISO RGD:1318216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880362 PCNP PEST proteolytic signal containing nuclear protein gene DOID:630 genetic disease ISO RGD:1603975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880375 TEX44 testis expressed 44 gene DOID:0060476 Perlman syndrome ISO RGD:1606945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11880375 TEX44 testis expressed 44 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1606945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11880380 CCDC85C coiled-coil domain containing 85C gene DOID:10908 hydrocephalus ISO RGD:1589818 D RGD:9068941 20211029 RGD PMID:31341137|REF_RGD_ID:150520163 11880380 CCDC85C coiled-coil domain containing 85C gene DOID:10908 hydrocephalus ISO RGD:1613682 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 11880380 CCDC85C coiled-coil domain containing 85C gene DOID:630 genetic disease ISO RGD:1344482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880380 CCDC85C coiled-coil domain containing 85C gene DOID:9009238 INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES ISO RGD:1344482 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with hypertelorism and distinctive facies PMID:25741868 11880390 FBLIM1 filamin binding LIM protein 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606792 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11880390 FBLIM1 filamin binding LIM protein 1 gene DOID:630 genetic disease ISO RGD:1606792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880438 ZFTRAF1 zinc finger TRAF-type containing 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1344193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11880438 ZFTRAF1 zinc finger TRAF-type containing 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1344193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11880438 ZFTRAF1 zinc finger TRAF-type containing 1 gene DOID:1059 intellectual disability ISO RGD:1344193 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability PMID:30787422 11880438 ZFTRAF1 zinc finger TRAF-type containing 1 gene DOID:4621 holoprosencephaly ISO RGD:1344193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11880438 ZFTRAF1 zinc finger TRAF-type containing 1 gene DOID:630 genetic disease ISO RGD:1344193 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880447 DGKG diacylglycerol kinase gamma gene DOID:630 genetic disease ISO RGD:733742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880482 LGI1 leucine rich glioma inactivated 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:733103 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy 11880482 LGI1 leucine rich glioma inactivated 1 gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:733103 D RGD:7240710 20180130 OMIM 11880482 LGI1 leucine rich glioma inactivated 1 gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:733103 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy with auditory features | ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:11810107|PMID:11978770|PMID:12205652|PMID:12601709|PMID:12771268|PMID:14510822|PMID:15079010|PMID:15079011|PMID:15349881|PMID:15660777|PMID:15857855|PMID:17296837|PMID:17562837|PMID:17576681|PMID:18625862|PMID:18711109|PMID:20659151|PMID:20863412|PMID:21444903|PMID:21504429|PMID:22496201|PMID:24206907|PMID:25485908|PMID:25741868|PMID:26467025|PMID:26773249|PMID:26993267|PMID:27760137|PMID:28492532|PMID:29133209|PMID:29924869|PMID:30284771|PMID:32086284|PMID:9536098 11880482 LGI1 leucine rich glioma inactivated 1 gene DOID:1059 intellectual disability ISO RGD:733103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11880482 LGI1 leucine rich glioma inactivated 1 gene DOID:1826 epilepsy ISO RGD:733103 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:21504429|PMID:25741868|PMID:26773249|PMID:28492532 11880482 LGI1 leucine rich glioma inactivated 1 gene DOID:1826 epilepsy ISO RGD:733103 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11880482 LGI1 leucine rich glioma inactivated 1 gene DOID:630 genetic disease ISO RGD:733103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11810107|PMID:15079010|PMID:15079011|PMID:15857855|PMID:17576681|PMID:18711109|PMID:20659151|PMID:21504429|PMID:25741868|PMID:26467025|PMID:26773249|PMID:28492532|PMID:29924869|PMID:9536098 11880482 LGI1 leucine rich glioma inactivated 1 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:628742 D RGD:9068941 20200609 RGD PMID:30813600|REF_RGD_ID:14995940 11880482 LGI1 leucine rich glioma inactivated 1 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:733103 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:25741868 11880497 DNAJC28 DnaJ heat shock protein family (Hsp40) member C28 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1353353 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11880497 DNAJC28 DnaJ heat shock protein family (Hsp40) member C28 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1353353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 11880497 DNAJC28 DnaJ heat shock protein family (Hsp40) member C28 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1353353 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11880497 DNAJC28 DnaJ heat shock protein family (Hsp40) member C28 gene DOID:630 genetic disease ISO RGD:1353353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880497 DNAJC28 DnaJ heat shock protein family (Hsp40) member C28 gene DOID:9005698 ZTTK Syndrome ISO RGD:1353353 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 11880510 CACNG1 calcium voltage-gated channel auxiliary subunit gamma 1 gene DOID:630 genetic disease ISO RGD:732630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880510 CACNG1 calcium voltage-gated channel auxiliary subunit gamma 1 gene DOID:8545 malignant hyperthermia ISO RGD:732630 D RGD:9068941 20200609 RGD PMID:8395940|REF_RGD_ID:734675 11880518 LOC100993185 putative phosphoserine phosphatase-like protein gene DOID:0050724 PSPH deficiency ISO RGD:1318726 D RGD:7240710 20180130 OMIM 11880518 LOC100993185 putative phosphoserine phosphatase-like protein gene DOID:0050724 PSPH deficiency ISO RGD:1318726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PSPH deficiency | ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency PMID:14673469|PMID:16199547|PMID:17576681|PMID:24146633|PMID:25080166|PMID:25741868|PMID:26589312|PMID:26633542|PMID:28492532|PMID:31515488|PMID:9222972|PMID:9536098 11880518 LOC100993185 putative phosphoserine phosphatase-like protein gene DOID:12849 autistic disorder ISO RGD:1318726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11880518 LOC100993185 putative phosphoserine phosphatase-like protein gene DOID:1826 epilepsy ISO RGD:1318726 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11880518 LOC100993185 putative phosphoserine phosphatase-like protein gene DOID:2187 amelogenesis imperfecta ISO RGD:1318726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital enamel hypoplasia PMID:28492532 11880518 LOC100993185 putative phosphoserine phosphatase-like protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11880518 LOC100993185 putative phosphoserine phosphatase-like protein gene DOID:630 genetic disease ISO RGD:1318726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 11880518 LOC100993185 putative phosphoserine phosphatase-like protein gene DOID:9008397 Maternal Phenylketonuria ISO RGD:1308764 D RGD:9068941 20200609 RGD PMID:7201630|REF_RGD_ID:2308873 11880518 LOC100993185 putative phosphoserine phosphatase-like protein gene DOID:9252 amino acid metabolic disorder ISO RGD:1318726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14673469 11880531 AKAP17A A-kinase anchoring protein 17A gene DOID:12849 autistic disorder ISO RGD:1606031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11880539 NRP2 neuropilin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1551257 D RGD:9068941 20220825 MouseDO 11880539 NRP2 neuropilin 2 gene DOID:10487 Hirschsprung's disease ISO RGD:732191 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 11880539 NRP2 neuropilin 2 gene DOID:12849 autistic disorder ISO RGD:732191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17427189 11880539 NRP2 neuropilin 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:732191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11880539 NRP2 neuropilin 2 gene DOID:630 genetic disease ISO RGD:732191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880539 NRP2 neuropilin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11880577 CDSN corneodesmosin gene DOID:0050553 JMP syndrome ISO RGD:1353195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11880577 CDSN corneodesmosin gene DOID:0060283 peeling skin syndrome ISO RGD:1353195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11880577 CDSN corneodesmosin gene DOID:0110699 hypotrichosis 2 ISO RGD:1353195 D RGD:7240710 20180130 OMIM 11880577 CDSN corneodesmosin gene DOID:0110699 hypotrichosis 2 ISO RGD:1353195 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypotrichosis 2 PMID:10793007|PMID:12754508|PMID:25741868|PMID:28492532|PMID:3652491 11880577 CDSN corneodesmosin gene DOID:11372 megacolon ISO RGD:1353195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11880577 CDSN corneodesmosin gene DOID:3310 atopic dermatitis ISO RGD:1353195 D RGD:9068941 20210226 RGD protein:decreased expression:skin of body (human) PMID:21211653|REF_RGD_ID:42721970 11880577 CDSN corneodesmosin gene DOID:630 genetic disease ISO RGD:1353195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880577 CDSN corneodesmosin gene DOID:9002384 Peeling Skin Syndrome 1 ISO RGD:1353195 D RGD:7240710 20180606 OMIM 11880577 CDSN corneodesmosin gene DOID:9002384 Peeling Skin Syndrome 1 ISO RGD:1353195 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peeling skin syndrome 1 PMID:20691404|PMID:21191406|PMID:22146835|PMID:23957618|PMID:2434123|PMID:25741868|PMID:28492532|PMID:31690835 11880577 CDSN corneodesmosin gene DOID:987 alopecia ISO RGD:1353195 D RGD:9068941 20200609 RGD hypotrichosis simplex of the scalp, OMIM:146520 DNA:point_mutation:CDS:C643T or C598T -> amino acid Q215X or Q200X PMID:12754508|REF_RGD_ID:1599783 11880597 HACD4 3-hydroxyacyl-CoA dehydratase 4 gene DOID:5419 schizophrenia ISO RGD:1601904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11880597 HACD4 3-hydroxyacyl-CoA dehydratase 4 gene DOID:630 genetic disease ISO RGD:1601904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880623 C1QTNF5 C1q and TNF related 5 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1318784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 11880623 C1QTNF5 C1q and TNF related 5 gene DOID:0060835 isolated microphthalmia 6 ISO RGD:1318784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 6 PMID:19169412|PMID:25741868|PMID:28492532 11880623 C1QTNF5 C1q and TNF related 5 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1318784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen PMID:12140190|PMID:1258954|PMID:15976030|PMID:16199547|PMID:17167404|PMID:17576681|PMID:18554571|PMID:18648522|PMID:19169412|PMID:19753314|PMID:20361016|PMID:21670352|PMID:22142163|PMID:22605927|PMID:22892318|PMID:23112574|PMID:23127749|PMID:23143909|PMID:23742260|PMID:24088041|PMID:24531000|PMID:25097241|PMID:25412400|PMID:25741868|PMID:26583794|PMID:26633545|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29170418|PMID:29450879|PMID:30181649|PMID:30653986|PMID:31106028|PMID:31992737|PMID:32052405|PMID:32118495|PMID:32830442|PMID:32996714|PMID:33203948|PMID:9536098 11880623 C1QTNF5 C1q and TNF related 5 gene DOID:0060869 late-onset retinal degeneration ISO RGD:1318784 D RGD:7240710 20180130 OMIM 11880623 C1QTNF5 C1q and TNF related 5 gene DOID:0060869 late-onset retinal degeneration ISO RGD:1318784 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Late-onset retinal degeneration | ClinVar Annotator: match by term: RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT PMID:12140190|PMID:12944416|PMID:15976030|PMID:16199547|PMID:18648522|PMID:19169412|PMID:20361016|PMID:22142163|PMID:22892318|PMID:23289492|PMID:24531000|PMID:25097241|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28939808|PMID:29847639|PMID:33203948|PMID:33949280 11880623 C1QTNF5 C1q and TNF related 5 gene DOID:0080634 nanophthalmos ISO RGD:1318784 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nanophthalmia PMID:25412400|PMID:25741868|PMID:26583794|PMID:28492532|PMID:29170418|PMID:30181649 11880623 C1QTNF5 C1q and TNF related 5 gene DOID:0080690 RASopathy ISO RGD:1318784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11880623 C1QTNF5 C1q and TNF related 5 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1318784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 11880623 C1QTNF5 C1q and TNF related 5 gene DOID:0111971 immunodeficiency 18 ISO RGD:1318784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 11880623 C1QTNF5 C1q and TNF related 5 gene DOID:0111972 immunodeficiency 19 ISO RGD:1318784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 11880623 C1QTNF5 C1q and TNF related 5 gene DOID:0111973 immunodeficiency 17 ISO RGD:1318784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 11880623 C1QTNF5 C1q and TNF related 5 gene DOID:110 lens disease ISO RGD:1318784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123441 11880623 C1QTNF5 C1q and TNF related 5 gene DOID:4448 macular degeneration ISO RGD:1318784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123441 11880623 C1QTNF5 C1q and TNF related 5 gene DOID:5419 schizophrenia ISO RGD:1318784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11880623 C1QTNF5 C1q and TNF related 5 gene DOID:630 genetic disease ISO RGD:1318784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11880623 C1QTNF5 C1q and TNF related 5 gene DOID:8466 retinal degeneration ISO RGD:1318784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:18648522|PMID:19169412|PMID:22892318|PMID:24531000|PMID:25741868|PMID:28492532 11880623 C1QTNF5 C1q and TNF related 5 gene DOID:8501 fundus dystrophy ISO RGD:1318784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12140190|PMID:12944416|PMID:15976030|PMID:16199547|PMID:20361016|PMID:22142163|PMID:23289492|PMID:24531000|PMID:25097241|PMID:25326637|PMID:25741868|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28939808|PMID:29847639|PMID:31992737|PMID:32036094 11880623 C1QTNF5 C1q and TNF related 5 gene DOID:9002122 Nanophthalmos 2 ISO RGD:1318784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nanophthalmos 2 PMID:12140190|PMID:1258954|PMID:15976030|PMID:17167404|PMID:18554571|PMID:19753314|PMID:20361016|PMID:22605927|PMID:23112574|PMID:23143909|PMID:28492532|PMID:32996714 11880623 C1QTNF5 C1q and TNF related 5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1318784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11880623 C1QTNF5 C1q and TNF related 5 gene DOID:9007661 Dwarfism ISO RGD:1318784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11880658 RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase gene DOID:0111590 Cohen syndrome ISO RGD:1317214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 11880658 RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase gene DOID:2377 multiple sclerosis ISO RGD:1317214 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 11880658 RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase gene DOID:630 genetic disease ISO RGD:1317214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880685 DDX55 DEAD-box helicase 55 gene DOID:630 genetic disease ISO RGD:1323439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880710 NTN5 netrin 5 gene DOID:630 genetic disease ISO RGD:1606977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880722 LOC100976362 transmembrane protein 191B gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1641960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 11880722 LOC100976362 transmembrane protein 191B gene DOID:11198 DiGeorge syndrome ISO RGD:1641960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 11880722 LOC100976362 transmembrane protein 191B gene DOID:12849 autistic disorder ISO RGD:1641960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11880722 LOC100976362 transmembrane protein 191B gene DOID:630 genetic disease ISO RGD:1641960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880723 CDKL1 cyclin dependent kinase like 1 gene DOID:630 genetic disease ISO RGD:1312899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880747 RBBP8 RB binding protein 8, endonuclease gene DOID:0050569 Seckel syndrome ISO RGD:1317354 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seckel syndrome PMID:28492532 11880747 RBBP8 RB binding protein 8, endonuclease gene DOID:0070013 Seckel syndrome 2 ISO RGD:1317354 D RGD:7240710 20180130 OMIM 11880747 RBBP8 RB binding protein 8, endonuclease gene DOID:0070013 Seckel syndrome 2 ISO RGD:1317354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RBBP8-Related Disorders | ClinVar Annotator: match by term: Seckel syndrome 2 PMID:11781686|PMID:16199547|PMID:18414213|PMID:24389050|PMID:25741868|PMID:27848944|PMID:28492532 11880747 RBBP8 RB binding protein 8, endonuclease gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1317354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 11880747 RBBP8 RB binding protein 8, endonuclease gene DOID:0080600 COVID-19 ISO RGD:1317354 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11880747 RBBP8 RB binding protein 8, endonuclease gene DOID:1059 intellectual disability ISO RGD:1317354 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11880747 RBBP8 RB binding protein 8, endonuclease gene DOID:10907 microcephaly ISO RGD:1317354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11880747 RBBP8 RB binding protein 8, endonuclease gene DOID:4905 pancreatic carcinoma ISO RGD:1317354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:28492532|PMID:9811458 11880747 RBBP8 RB binding protein 8, endonuclease gene DOID:630 genetic disease ISO RGD:1317354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:32379725|PMID:9536098 11880747 RBBP8 RB binding protein 8, endonuclease gene DOID:9008107 Microcephaly with Mental Retardation and Digital Anomalies ISO RGD:1317354 D RGD:7240710 20180130 OMIM 11880747 RBBP8 RB binding protein 8, endonuclease gene DOID:9008107 Microcephaly with Mental Retardation and Digital Anomalies ISO RGD:1317354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Jawad syndrome PMID:18071751|PMID:21998596|PMID:24389050|PMID:25741868|PMID:27848944|PMID:28492532|PMID:32379725 11880778 FAM133A family with sequence similarity 133 member A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11880778 FAM133A family with sequence similarity 133 member A gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1602817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:25741868 11880778 FAM133A family with sequence similarity 133 member A gene DOID:12849 autistic disorder ISO RGD:1602817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11880778 FAM133A family with sequence similarity 133 member A gene DOID:630 genetic disease ISO RGD:1602817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880789 TFIP11 tuftelin interacting protein 11 gene DOID:0110271 cataract 23 ISO RGD:1322916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 11880789 TFIP11 tuftelin interacting protein 11 gene DOID:630 genetic disease ISO RGD:1322916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880818 EEPD1 endonuclease/exonuclease/phosphatase family domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11880818 EEPD1 endonuclease/exonuclease/phosphatase family domain containing 1 gene DOID:630 genetic disease ISO RGD:1606501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880830 HOXB5 homeobox B5 gene DOID:630 genetic disease ISO RGD:1342680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880830 HOXB5 homeobox B5 gene DOID:9970 obesity ISO RGD:1342680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22484627 11880853 GABRR1 gamma-aminobutyric acid type A receptor subunit rho1 gene DOID:630 genetic disease ISO RGD:1346666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880879 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1313199 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11880879 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1313199 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11880879 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:0080600 COVID-19 ISO RGD:1313199 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11880879 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:0110391 retinitis pigmentosa 31 ISO RGD:1313199 D RGD:7240710 20180130 OMIM 11880879 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:0110391 retinitis pigmentosa 31 ISO RGD:1313199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 31 PMID:16189705|PMID:17924349|PMID:18509552|PMID:23950152|PMID:25741868|PMID:26720483|PMID:28076437|PMID:28492532 11880879 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1313199 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11880879 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:10283 prostate cancer ISO RGD:1313199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11880879 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:10584 retinitis pigmentosa ISO RGD:1313199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:18509552|PMID:19373681|PMID:22334370|PMID:25741868|PMID:28041643|PMID:28166811|PMID:28492532|PMID:30718709 11880879 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:10584 retinitis pigmentosa ISO RGD:1313199 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:18509552|PMID:19373681|PMID:22334370|PMID:25741868|PMID:28041643|PMID:28492532|PMID:30718709 11880879 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:3347 osteosarcoma ISO RGD:1313199 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14767549 11880879 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1313199 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11880879 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:8501 fundus dystrophy ISO RGD:1313199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17924349|PMID:18509552|PMID:22581970|PMID:23950152|PMID:26155838|PMID:26872967|PMID:28076437|PMID:28453362|PMID:28492532 11880879 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313199 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11880879 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:9834 hyperopia ISO RGD:1313199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypermetropia PMID:25741868|PMID:26720483|PMID:28492532 11880879 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:9870 galactosemia ISO RGD:1313199 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11880890 AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1314029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 11880890 AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:0110266 cataract 9 multiple types ISO RGD:1314029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11880890 AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:12849 autistic disorder ISO RGD:1314029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11880890 AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:1289 neurodegenerative disease ISO RGD:1314029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 11880890 AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:630 genetic disease ISO RGD:1314029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880890 AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1314029 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11880890 AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11880890 AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:9263 homocystinuria ISO RGD:1314029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11880890 AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1314029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11880918 MED24 mediator complex subunit 24 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1348876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 11880918 MED24 mediator complex subunit 24 gene DOID:630 genetic disease ISO RGD:1348876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880918 MED24 mediator complex subunit 24 gene DOID:9007661 Dwarfism ISO RGD:1348876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11880969 PSMB3 proteasome 20S subunit beta 3 gene DOID:630 genetic disease ISO RGD:734194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11880979 DDX3X DEAD-box helicase 3 X-linked gene DOID:0050902 medulloblastoma ISO RGD:1352934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:26822237 11880979 DDX3X DEAD-box helicase 3 X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11880979 DDX3X DEAD-box helicase 3 X-linked gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1352934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 11880979 DDX3X DEAD-box helicase 3 X-linked gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1352934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 11880979 DDX3X DEAD-box helicase 3 X-linked gene DOID:0070338 cerebellar hypoplasia ISO RGD:1352934 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:26235985|PMID:31474318 11880979 DDX3X DEAD-box helicase 3 X-linked gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1352934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 11880979 DDX3X DEAD-box helicase 3 X-linked gene DOID:1059 intellectual disability ISO RGD:1352934 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:26235985|PMID:28492532|PMID:30349862|PMID:32165824|PMID:34008892 11880979 DDX3X DEAD-box helicase 3 X-linked gene DOID:12849 autistic disorder ISO RGD:1352934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11880979 DDX3X DEAD-box helicase 3 X-linked gene DOID:1612 breast cancer exacerbates ISO RGD:1352934 D RGD:9068941 20220210 RGD protein:increased expression:breast, nucleus (human) PMID:28761359|REF_RGD_ID:151356502 11880979 DDX3X DEAD-box helicase 3 X-linked gene DOID:1790 malignant mesothelioma ISO RGD:1352934 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 11880979 DDX3X DEAD-box helicase 3 X-linked gene DOID:1826 epilepsy ISO RGD:1352934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 11880979 DDX3X DEAD-box helicase 3 X-linked gene DOID:630 genetic disease ISO RGD:1352934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12535527|PMID:16199547|PMID:17576681|PMID:17631897|PMID:2563148|PMID:25741868|PMID:26235985|PMID:26598523|PMID:28333917|PMID:28371085|PMID:28492532|PMID:30349862|PMID:30734472|PMID:30817323|PMID:31618753|PMID:32135084|PMID:32371413|PMID:33504798|PMID:9536098 11880979 DDX3X DEAD-box helicase 3 X-linked gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1557808 D RGD:9068941 20220210 RGD PMID:30297359|REF_RGD_ID:151356499 11880979 DDX3X DEAD-box helicase 3 X-linked gene DOID:684 hepatocellular carcinoma sexual_dimorphism ISO RGD:1352934 D RGD:9068941 20220210 RGD associated with hepatitis B; mRNA,protein:decreased expression:liver (human) PMID:16301996|REF_RGD_ID:151356660 11880979 DDX3X DEAD-box helicase 3 X-linked gene DOID:8398 osteoarthritis ISO RGD:1352934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11880979 DDX3X DEAD-box helicase 3 X-linked gene DOID:8649 tongue cancer ameliorates ISO RGD:1557808 D RGD:9068941 20220210 RGD PMID:25918862|REF_RGD_ID:151356506 11880979 DDX3X DEAD-box helicase 3 X-linked gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352934 D RGD:9068941 20220210 RGD human cells in mouse model PMID:26087195|REF_RGD_ID:11096798 11880979 DDX3X DEAD-box helicase 3 X-linked gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1352934 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 11880979 DDX3X DEAD-box helicase 3 X-linked gene DOID:9002789 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE ISO RGD:1352934 D RGD:7240710 20180130 OMIM 11880979 DDX3X DEAD-box helicase 3 X-linked gene DOID:9002789 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE ISO RGD:1352934 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: DDX3X-related X-linked intellectual disability | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE | ClinVar Annotator: match by term: X-linked intellectual disability-hypotonia-movement disorder syndrome PMID:16199547|PMID:17576681|PMID:18414213|PMID:25533962|PMID:2563148|PMID:25741868|PMID:25741895|PMID:26235985|PMID:26598523|PMID:27159028|PMID:28371085|PMID:28492532|PMID:29490693|PMID:30349862|PMID:30734472|PMID:30817323|PMID:30936465|PMID:31474318|PMID:31618753|PMID:32135084|PMID:32371413|PMID:33504798|PMID:33692367|PMID:34008892|PMID:9536098 11880979 DDX3X DEAD-box helicase 3 X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11880979 DDX3X DEAD-box helicase 3 X-linked gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1352934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11880979 DDX3X DEAD-box helicase 3 X-linked gene DOID:9008086 Developmental Disabilities ISO RGD:1352934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741895 11880979 DDX3X DEAD-box helicase 3 X-linked gene DOID:9256 colorectal cancer ISO RGD:1352934 D RGD:9068941 20220210 RGD protein:increased expression:colorectum (human) PMID:31391454|REF_RGD_ID:151356658 11880979 DDX3X DEAD-box helicase 3 X-linked gene DOID:9256 colorectal cancer ameliorates ISO RGD:1352934 D RGD:9068941 20220210 RGD human cells in mouse model PMID:31391454|REF_RGD_ID:151356658 11880979 DDX3X DEAD-box helicase 3 X-linked gene DOID:9256 colorectal cancer exacerbates ISO RGD:1352934 D RGD:9068941 20220210 RGD protein:increased expression:colorectum (human) PMID:26892600|PMID:27007150|REF_RGD_ID:151356503|REF_RGD_ID:151356505 11880979 DDX3X DEAD-box helicase 3 X-linked gene DOID:9256 colorectal cancer exacerbates ISO RGD:1352934 D RGD:9068941 20220210 RGD protein:increased expression:colorectum, nucleus (human) PMID:28761359|REF_RGD_ID:151356502 11880979 DDX3X DEAD-box helicase 3 X-linked gene DOID:9256 colorectal cancer treatment ISO RGD:1352934 D RGD:9068941 20220210 RGD PMID:26087195|REF_RGD_ID:11096798 11881013 PRDM5 PR/SET domain 5 gene DOID:0080729 brittle cornea syndrome 2 ISO RGD:1318295 D RGD:7240710 20180130 OMIM 11881013 PRDM5 PR/SET domain 5 gene DOID:0080729 brittle cornea syndrome 2 ISO RGD:1318295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brittle cornea syndrome 2 PMID:17576681|PMID:21664999|PMID:22122778|PMID:25741868|PMID:26395458|PMID:28492532|PMID:33739556|PMID:34008892|PMID:8458232|PMID:9536098 11881013 PRDM5 PR/SET domain 5 gene DOID:0110120 Axenfeld-Rieger syndrome type 1 ISO RGD:1318295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 PMID:26489929 11881013 PRDM5 PR/SET domain 5 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1318295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:21664999|PMID:25741868|PMID:26395458|PMID:28492532|PMID:33739556|PMID:34008892 11881013 PRDM5 PR/SET domain 5 gene DOID:14775 brittle cornea syndrome 1 ISO RGD:1318295 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility PMID:25741868|PMID:28492532 11881013 PRDM5 PR/SET domain 5 gene DOID:630 genetic disease ISO RGD:1318295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11881013 PRDM5 PR/SET domain 5 gene DOID:65 connective tissue disease ISO RGD:1318295 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 11881013 PRDM5 PR/SET domain 5 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1318295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 11881013 PRDM5 PR/SET domain 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11881041 STK39 serine/threonine kinase 39 gene DOID:0050450 Gitelman syndrome ISO RGD:734215 D RGD:9068941 20220825 MouseDO OMIM:263800 11881041 STK39 serine/threonine kinase 39 gene DOID:10763 hypertension ISO RGD:734214 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22949526 11881041 STK39 serine/threonine kinase 39 gene DOID:12849 autistic disorder ISO RGD:734214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18348195 11881041 STK39 serine/threonine kinase 39 gene DOID:3910 lung adenocarcinoma ISO RGD:734214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11881041 STK39 serine/threonine kinase 39 gene DOID:4479 pseudohypoaldosteronism ISO RGD:734215 D RGD:9068941 20220825 MouseDO 11881041 STK39 serine/threonine kinase 39 gene DOID:630 genetic disease ISO RGD:734214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881041 STK39 serine/threonine kinase 39 gene DOID:9006205 Animal Disease Models ISO RGD:734214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11881062 MAK16 MAK16 homolog gene DOID:0081204 autosomal recessive intellectual developmental disorder 39 ISO RGD:1350635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome PMID:23956177 11881062 MAK16 MAK16 homolog gene DOID:10907 microcephaly ISO RGD:1350635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11881062 MAK16 MAK16 homolog gene DOID:630 genetic disease ISO RGD:1350635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881079 EPS15 epidermal growth factor receptor pathway substrate 15 gene DOID:630 genetic disease ISO RGD:1313642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881121 TM9SF4 transmembrane 9 superfamily member 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1317150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11881121 TM9SF4 transmembrane 9 superfamily member 4 gene DOID:630 genetic disease ISO RGD:1317150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881157 SAXO4 stabilizer of axonemal microtubules 4 gene DOID:0050773 paraganglioma ISO RGD:735928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:22241717|PMID:26096992|PMID:28492532 11881157 SAXO4 stabilizer of axonemal microtubules 4 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:735928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11881157 SAXO4 stabilizer of axonemal microtubules 4 gene DOID:1059 intellectual disability ISO RGD:735928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11881157 SAXO4 stabilizer of axonemal microtubules 4 gene DOID:630 genetic disease ISO RGD:735928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881157 SAXO4 stabilizer of axonemal microtubules 4 gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:735928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:22241717|PMID:26096992|PMID:28492532 11881184 PRAG1 PEAK1 related, kinase-activating pseudokinase 1 gene DOID:630 genetic disease ISO RGD:11554295 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881185 AZIN1 antizyme inhibitor 1 gene DOID:0111590 Cohen syndrome ISO RGD:731863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 11881185 AZIN1 antizyme inhibitor 1 gene DOID:11339 pneumocystosis ISO RGD:61934 D RGD:9068941 20200609 RGD mRNA:increased expression:alveolar macrophage PMID:19158080|REF_RGD_ID:14700806 11881185 AZIN1 antizyme inhibitor 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:731863 D RGD:9068941 20200609 RGD PMID:24302582|REF_RGD_ID:14700707 11881185 AZIN1 antizyme inhibitor 1 gene DOID:5082 liver cirrhosis ISO RGD:731863 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA SNP: :rs2679757 (human) PMID:21586232|REF_RGD_ID:14700702 11881185 AZIN1 antizyme inhibitor 1 gene DOID:5082 liver cirrhosis ISO RGD:731863 D RGD:9068941 20200609 RGD associated with hepatocellular carcinoma;RNA:increased editing:liver PMID:23291631|REF_RGD_ID:14700705 11881185 AZIN1 antizyme inhibitor 1 gene DOID:630 genetic disease ISO RGD:731863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881185 AZIN1 antizyme inhibitor 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:731863 D RGD:9068941 20200609 RGD RNA:increased editing:liver PMID:23291631|REF_RGD_ID:14700705 11881185 AZIN1 antizyme inhibitor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731863 D RGD:9068941 20200609 RGD associated with colorectal cancer;RNA:increased editing:colorectum PMID:29925690|REF_RGD_ID:14700704 11881185 AZIN1 antizyme inhibitor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731863 D RGD:9068941 20200609 RGD associated with stomach cancer;RNA:increased editing:stomach PMID:30563560|REF_RGD_ID:14700703 11881185 AZIN1 antizyme inhibitor 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:61934 D RGD:9068941 20200609 RGD PMID:26751697|REF_RGD_ID:14700801 11881214 ST3GAL6 ST3 beta-galactoside alpha-2,3-sialyltransferase 6 gene DOID:630 genetic disease ISO RGD:1349452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881271 SORCS2 sortilin related VPS10 domain containing receptor 2 gene DOID:630 genetic disease ISO RGD:1321631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881304 PURA purine rich element binding protein A gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1318376 D RGD:7240710 20230420 OMIM 11881304 PURA purine rich element binding protein A gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1318376 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES | ClinVar Annotator: match by term: PURA Syndrome | ClinVar Annotator: match by term: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation PMID:12818205|PMID:19846792|PMID:23950017|PMID:24033266|PMID:25342064|PMID:25439098|PMID:25741868|PMID:25741869|PMID:26744780|PMID:27148565|PMID:28448108|PMID:28492532|PMID:28600779|PMID:29097605|PMID:29150892|PMID:29619234|PMID:32089526|PMID:32238909|PMID:32337850|PMID:32581362|PMID:32860008|PMID:34008892|PMID:9461080 11881304 PURA purine rich element binding protein A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318376 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11881304 PURA purine rich element binding protein A gene DOID:1059 intellectual disability ISO RGD:1318376 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:24033266|PMID:25439098|PMID:25741868|PMID:28448108|PMID:28492532|PMID:32581362|PMID:32860008|PMID:34008892 11881304 PURA purine rich element binding protein A gene DOID:1826 epilepsy ISO RGD:1318376 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Seizure PMID:25439098|PMID:25741868|PMID:28448108|PMID:28492532|PMID:32860008|PMID:34008892 11881304 PURA purine rich element binding protein A gene DOID:543 dystonia ISO RGD:1318376 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Limb dystonia PMID:25741868 11881304 PURA purine rich element binding protein A gene DOID:630 genetic disease ISO RGD:1318376 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12818205|PMID:19846792|PMID:22614836|PMID:25741868|PMID:26744780|PMID:27148565|PMID:28448108|PMID:28492532|PMID:29097605|PMID:29150892|PMID:29307761|PMID:9461080 11881304 PURA purine rich element binding protein A gene DOID:9001793 Generalized Epilepsy ISO RGD:1318376 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:32581362 11881304 PURA purine rich element binding protein A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318376 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11881304 PURA purine rich element binding protein A gene DOID:9004992 Apnea ISO RGD:1318376 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Apnea PMID:25741868 11881304 PURA purine rich element binding protein A gene DOID:9005603 Muscle Hypotonia ISO RGD:1318376 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia PMID:25439098|PMID:25741868|PMID:28448108|PMID:28492532|PMID:32860008|PMID:34008892 11881304 PURA purine rich element binding protein A gene DOID:9006534 Nervous System Malformations ISO RGD:1318376 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11881304 PURA purine rich element binding protein A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318376 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11881304 PURA purine rich element binding protein A gene DOID:9008086 Developmental Disabilities ISO RGD:1318376 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25439098|PMID:25741868|PMID:28448108|PMID:28492532|PMID:32860008|PMID:34008892 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:0060224 atrial fibrillation ISO RGD:735617 D RGD:9068941 20230330 RGD associated with heart valve disease;protein:increased expression:right atrial myocardium PMID:33236535|REF_RGD_ID:242905189 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:0080205 CAKUT ISO RGD:735617 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:25741868|PMID:28492532|PMID:30692597|PMID:35227688 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:0080745 polymyositis ISO RGD:735617 D RGD:9068941 20230330 RGD mRNA,protein:increased expression:muscle PMID:32213157|REF_RGD_ID:243048425 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:0111797 autosomal recessive congenital nystagmus ISO RGD:735617 D RGD:7240710 20230505 OMIM 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:0111797 autosomal recessive congenital nystagmus ISO RGD:735617 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Nystagmus, congenital, autosomal recessive PMID:35348658 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:10223 dermatomyositis ISO RGD:735617 D RGD:9068941 20230330 RGD mRNA,protein:increased expression:muscle PMID:32213157|REF_RGD_ID:243048425 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:10488 imperforate anus ISO RGD:735617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imperforate anus PMID:25741868 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:1059 intellectual disability ISO RGD:735617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28135719|PMID:28600779 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:10591 pre-eclampsia ISO RGD:735617 D RGD:9068941 20230330 RGD mRNA,protein:increased expression:placenta PMID:22262697|REF_RGD_ID:243048428 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:12849 autistic disorder ISO RGD:735617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18270976 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:1324 lung cancer ISO RGD:62234 D RGD:9068941 20220825 MouseDO OMIM:211980 | OMIM:608935 | OMIM:612571 | OMIM:612593 | OMIM:614210 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:14766 renal agenesis ISO RGD:735617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral renal agenesis PMID:25741868|PMID:29194579 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:1657 ventricular septal defect ISO RGD:62234 D RGD:9068941 20230330 RGD PMID:25691540|REF_RGD_ID:243048427 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:1682 congenital heart disease ISO RGD:735617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868|PMID:26489027|PMID:27854360|PMID:28286008|PMID:28492532|PMID:30712880 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:224 transient cerebral ischemia ISO RGD:61941 D RGD:9068941 20230330 RGD protein:increased expression:brain, astrocyte PMID:27686659|REF_RGD_ID:243048429 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:224 transient cerebral ischemia ISO RGD:61941 D RGD:9068941 20230330 RGD protein:increased expression:hippocampus PMID:26764532|REF_RGD_ID:11573340 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:224 transient cerebral ischemia disease_progression ISO RGD:62234 D RGD:9068941 20230330 RGD PMID:23473743|REF_RGD_ID:243048431 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:2975 cystic kidney disease ISO RGD:62234 D RGD:9068941 20220825 MouseDO 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:299 adenocarcinoma ISO RGD:735617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17671114 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:3721 plasmacytoma ameliorates ISO RGD:735617 D RGD:9068941 20230330 RGD PMID:34268498|REF_RGD_ID:243048419 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:61941 D RGD:9068941 20200609 RGD mRNA:altered expression:lung PMID:15264215|REF_RGD_ID:2314868 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:630 genetic disease ISO RGD:735617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:6419 tetralogy of Fallot ISO RGD:735617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:25741868|PMID:28592524 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:8947 diabetic retinopathy ISO RGD:61941 D RGD:9068941 20230330 RGD mRNA,protein:increased expression:retina PMID:28973045|REF_RGD_ID:243048421 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:61941 D RGD:9068941 20230401 RGD mRNA,protein:increased expression:spinal cord: PMID:27893610|REF_RGD_ID:243048440 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:9000998 Brain Injuries ISO RGD:61941 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:16262652|REF_RGD_ID:2316136 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:9000998 Brain Injuries ISO RGD:61941 D RGD:9068941 20230401 RGD protein:increased expression:brain, immune cell PMID:26550694|REF_RGD_ID:243048437 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:9003086 Congenital Nystagmus 8 ISO RGD:735617 D RGD:7240710 20230505 OMIM 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:9003139 Cardiac Fibrosis ameliorates ISO RGD:62234 D RGD:9068941 20230330 RGD PMID:33236535|REF_RGD_ID:242905189 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:9003676 Brain Hypoxia-Ischemia exacerbates ISO RGD:61941 D RGD:9068941 20230330 RGD PMID:31356825|REF_RGD_ID:242905191 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:735617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868|PMID:28402530|PMID:30530901|PMID:31448886 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:9005172 Lung Neoplasms ISO RGD:735617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17671114 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:9005178 Combined Pituitary Hormone Deficiency 8 ISO RGD:735617 D RGD:7240710 20230505 OMIM 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:9005178 Combined Pituitary Hormone Deficiency 8 ISO RGD:735617 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined or isolated, 8 PMID:25741868|PMID:28402530|PMID:31448886 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:61941 D RGD:9068941 20230401 RGD mRNA:increased expression:carotid artery PMID:26841069|REF_RGD_ID:243048443 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:9007661 Dwarfism ISO RGD:735617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25410734 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:9008104 Cancer Pain exacerbates ISO RGD:61941 D RGD:9068941 20230401 RGD PMID:26738857|REF_RGD_ID:243048441 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:9538 multiple myeloma ameliorates ISO RGD:735617 D RGD:9068941 20230330 RGD PMID:34268498|REF_RGD_ID:243048419 11881311 ROBO1 roundabout guidance receptor 1 gene DOID:9649 congenital nystagmus ISO RGD:735617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital nystagmus PMID:25741868|PMID:28492532 11881361 SKIL SKI like proto-oncogene gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1314830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 11881361 SKIL SKI like proto-oncogene gene DOID:10283 prostate cancer ISO RGD:1314830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11881361 SKIL SKI like proto-oncogene gene DOID:1062 Fanconi syndrome ISO RGD:1314830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 11881361 SKIL SKI like proto-oncogene gene DOID:37 skin disease ISO RGD:1314830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11881361 SKIL SKI like proto-oncogene gene DOID:3770 pulmonary fibrosis ISO RGD:1314830 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23590892 11881361 SKIL SKI like proto-oncogene gene DOID:5199 ureteral obstruction ISO RGD:621399 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:19382458|REF_RGD_ID:2308888 11881361 SKIL SKI like proto-oncogene gene DOID:630 genetic disease ISO RGD:1314830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881361 SKIL SKI like proto-oncogene gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621399 D RGD:9068941 20200609 RGD PMID:19189315|REF_RGD_ID:2308901 11881361 SKIL SKI like proto-oncogene gene DOID:9004018 Paraquat Lung ISO RGD:1314830 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23590892 11881361 SKIL SKI like proto-oncogene gene DOID:9007964 Arsenic Poisoning ISO RGD:1314830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11881380 TCN2 transcobalamin 2 gene DOID:0050818 transcobalamin II deficiency ISO RGD:1347590 D RGD:7240710 20180130 OMIM 11881380 TCN2 transcobalamin 2 gene DOID:0050818 transcobalamin II deficiency ISO RGD:1347590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Transcobalamin II deficiency PMID:10518276|PMID:12091374|PMID:12194912|PMID:12707225|PMID:14632784|PMID:16199547|PMID:17220211|PMID:17576681|PMID:19373259|PMID:20352340|PMID:20607612|PMID:22188304|PMID:24033266|PMID:2430590|PMID:25741868|PMID:27155006|PMID:28492532|PMID:29631995|PMID:32888943|PMID:7849710|PMID:7980584|PMID:9536098 11881380 TCN2 transcobalamin 2 gene DOID:0080600 COVID-19 ISO RGD:1347590 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11881380 TCN2 transcobalamin 2 gene DOID:12450 pancytopenia ISO RGD:1347590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pancytopenia PMID:16199547|PMID:20352340|PMID:28492532|PMID:7980584 11881380 TCN2 transcobalamin 2 gene DOID:12849 autistic disorder ISO RGD:1347590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16917939 11881380 TCN2 transcobalamin 2 gene DOID:13382 megaloblastic anemia ISO RGD:1347590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4627864 11881380 TCN2 transcobalamin 2 gene DOID:13382 megaloblastic anemia ISO RGD:1347590 D RGD:9068941 20200609 RGD PMID:7849710|REF_RGD_ID:1580450 11881380 TCN2 transcobalamin 2 gene DOID:14330 Parkinson's disease ISO RGD:1347590 D RGD:9068941 20200609 RGD PMID:20027219|REF_RGD_ID:11060125 11881380 TCN2 transcobalamin 2 gene DOID:2917 cryoglobulinemia ISO RGD:1347590 D RGD:9068941 20200609 RGD associated with Glomerulonephritis;protein:increased expression:serum: PMID:3574578|REF_RGD_ID:11060121 11881380 TCN2 transcobalamin 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1347590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29379198 11881380 TCN2 transcobalamin 2 gene DOID:630 genetic disease ISO RGD:1347590 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20352340|PMID:25741868|PMID:28492532|PMID:7980584 11881380 TCN2 transcobalamin 2 gene DOID:657 adenoma ISO RGD:1347590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17389618 11881380 TCN2 transcobalamin 2 gene DOID:9000300 Refractory Anemia ISO RGD:1347590 D RGD:9068941 20200609 RGD protein:increased expression:: PMID:1059479|REF_RGD_ID:11060122 11881380 TCN2 transcobalamin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11881380 TCN2 transcobalamin 2 gene DOID:9002473 Blast Crisis ISO RGD:1347590 D RGD:9068941 20200609 RGD protein:increased expression:: PMID:1059479|REF_RGD_ID:11060122 11881380 TCN2 transcobalamin 2 gene DOID:9002704 Leukoencephalopathies ISO RGD:1347590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15753437 11881380 TCN2 transcobalamin 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1347590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15753437 11881380 TCN2 transcobalamin 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1347590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17389618 11881380 TCN2 transcobalamin 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1347590 D RGD:9068941 20200609 RGD protein:increased expression:: PMID:1059479|REF_RGD_ID:11060122 11881380 TCN2 transcobalamin 2 gene DOID:9296 cleft lip ISO RGD:1347590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16470748 11881380 TCN2 transcobalamin 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1347590 D RGD:9068941 20200609 RGD protein:altered activity:plasma: PMID:8754152|REF_RGD_ID:11059889 11881393 CDKL3 cyclin dependent kinase like 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731372 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11881393 CDKL3 cyclin dependent kinase like 3 gene DOID:630 genetic disease ISO RGD:731372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881393 CDKL3 cyclin dependent kinase like 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11881393 CDKL3 cyclin dependent kinase like 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731372 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11881410 NLRP8 NLR family pyrin domain containing 8 gene DOID:630 genetic disease ISO RGD:1347943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881424 NID1 nidogen 1 gene DOID:1540 parathyroid carcinoma ISO RGD:737172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11881424 NID1 nidogen 1 gene DOID:630 genetic disease ISO RGD:737172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881424 NID1 nidogen 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11881424 NID1 nidogen 1 gene DOID:9002079 Paresis ISO RGD:737172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemiparesis PMID:25558065 11881424 NID1 nidogen 1 gene DOID:9004657 Weight Gain ISO RGD:737172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11881424 NID1 nidogen 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11881448 CPA5 carboxypeptidase A5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11881448 CPA5 carboxypeptidase A5 gene DOID:630 genetic disease ISO RGD:1345322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881475 MED13L mediator complex subunit 13L gene DOID:0060041 autism spectrum disorder ISO RGD:1314183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:30504930 11881475 MED13L mediator complex subunit 13L gene DOID:0060770 dextro-looped transposition of the great arteries ISO RGD:1314183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Transposition of the great arteries, dextro-looped PMID:14638541|PMID:16199547|PMID:17576681|PMID:23403903|PMID:24267886|PMID:24781760|PMID:24896178|PMID:25137640|PMID:25167861|PMID:25356899|PMID:25712080|PMID:25741868|PMID:25741884|PMID:25758992|PMID:27824329|PMID:27899622|PMID:28371282|PMID:28492532|PMID:28554332|PMID:28588821|PMID:28645799|PMID:29159987|PMID:29511999|PMID:29959045|PMID:31785789|PMID:5167861|PMID:9536098 11881475 MED13L mediator complex subunit 13L gene DOID:1059 intellectual disability ISO RGD:1314183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23403903|PMID:25167861|PMID:25741868|PMID:28492532|PMID:29511999 11881475 MED13L mediator complex subunit 13L gene DOID:540 strabismus ISO RGD:1314183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Strabismus PMID:25741868 11881475 MED13L mediator complex subunit 13L gene DOID:630 genetic disease ISO RGD:1314183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12738880|PMID:14638541|PMID:23403903|PMID:24267886|PMID:24781760|PMID:24896178|PMID:25137640|PMID:25167861|PMID:25356899|PMID:25712080|PMID:25741868|PMID:25758992|PMID:27899622|PMID:28371282|PMID:28492532|PMID:28588821|PMID:28645799|PMID:29159987|PMID:29511999|PMID:5167861 11881475 MED13L mediator complex subunit 13L gene DOID:9003837 Au-Kline Syndrome ISO RGD:1314183 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Kabuki-like syndrome PMID:25741868 11881475 MED13L mediator complex subunit 13L gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11881475 MED13L mediator complex subunit 13L gene DOID:9006001 Mental Retardation and Distinctive Facial Features with or without Cardiac Defects ISO RGD:1314183 D RGD:7240710 20190315 OMIM 11881475 MED13L mediator complex subunit 13L gene DOID:9006001 Mental Retardation and Distinctive Facial Features with or without Cardiac Defects ISO RGD:1314183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ASADOLLAHI-RAUCH SYNDROME | ClinVar Annotator: match by term: Impaired intellectual development and distinctive facial features with cardiac defects | ClinVar Annotator: match by term: MED13L-Related Disorder PMID:14638541|PMID:22542183|PMID:24781760|PMID:24896178|PMID:25167861|PMID:25712080|PMID:25741868|PMID:25741869|PMID:25758992|PMID:28492532|PMID:28554332|PMID:28645799|PMID:28708303|PMID:29511999|PMID:30504930|PMID:31785789 11881475 MED13L mediator complex subunit 13L gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1314183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11881475 MED13L mediator complex subunit 13L gene DOID:9008086 Developmental Disabilities ISO RGD:1314183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25712080|PMID:25741868|PMID:25741884|PMID:25758992|PMID:28492532|PMID:31785789 11881475 MED13L mediator complex subunit 13L gene DOID:9620 vesicoureteral reflux ISO RGD:1314183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vesico-Ureteral Reflux PMID:25741868 11881513 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:0050777 Joubert syndrome ISO RGD:733255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11881513 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:733255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11881513 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:733255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11881513 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:733255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11881513 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:733255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11881513 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:733255 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11881513 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:733255 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11881513 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:0081097 Rafiq syndrome ISO RGD:733255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11881513 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:10763 hypertension ISO RGD:69266 D RGD:9068941 20200609 RGD PMID:20655932|REF_RGD_ID:9685529 11881513 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:12236 primary biliary cholangitis ISO RGD:733255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15651265 11881513 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:12236 primary biliary cholangitis ISO RGD:733255 D RGD:9068941 20200609 RGD PMID:15651265|REF_RGD_ID:9685530 11881513 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:1826 epilepsy ISO RGD:733255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11881513 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:3070 high grade glioma ISO RGD:733255 D RGD:9068941 20200609 RGD PMID:19558578|REF_RGD_ID:9685528 11881513 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:3652 Leigh disease ISO RGD:733255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11881513 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:5082 liver cirrhosis ISO RGD:733255 D RGD:9068941 20200609 RGD associated with hepatitis C PMID:15651265|REF_RGD_ID:9685530 11881513 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:630 genetic disease ISO RGD:733255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881513 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69266 D RGD:9068941 20200609 RGD PMID:15651265|REF_RGD_ID:9685530 11881513 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:733255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11881539 CPXM2 carboxypeptidase X, M14 family member 2 gene DOID:3007 breast ductal carcinoma ISO RGD:1345488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 11881539 CPXM2 carboxypeptidase X, M14 family member 2 gene DOID:630 genetic disease ISO RGD:1345488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881557 IREB2 iron responsive element binding protein 2 gene DOID:10652 Alzheimer's disease ISO RGD:733858 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2656070, rs13180(human) PMID:16914832|REF_RGD_ID:6893299 11881557 IREB2 iron responsive element binding protein 2 gene DOID:11758 iron deficiency anemia ISO RGD:621539 D RGD:9068941 20200609 RGD mRNA:increased expression:duodenal mucosa (rat) PMID:18549630|REF_RGD_ID:12904038 11881557 IREB2 iron responsive element binding protein 2 gene DOID:11758 iron deficiency anemia ISO RGD:621539 D RGD:9068941 20200609 RGD protein:altered activity:intestinal villus of duodenum (rat) PMID:10095770|REF_RGD_ID:12910699 11881557 IREB2 iron responsive element binding protein 2 gene DOID:1289 neurodegenerative disease ISO RGD:736754 D RGD:9068941 20200609 RGD PMID:18685102|REF_RGD_ID:6893298 11881557 IREB2 iron responsive element binding protein 2 gene DOID:2018 hyperinsulinism ISO RGD:621539 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:25385842|REF_RGD_ID:12903966 11881557 IREB2 iron responsive element binding protein 2 gene DOID:2355 anemia ISO RGD:621539 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain (rat) PMID:27602087|REF_RGD_ID:12903962 11881557 IREB2 iron responsive element binding protein 2 gene DOID:2355 anemia treatment ISO RGD:621539 D RGD:9068941 20200609 RGD PMID:26584806|REF_RGD_ID:12903965 11881557 IREB2 iron responsive element binding protein 2 gene DOID:2367 neuroaxonal dystrophy ISO RGD:736754 D RGD:9068941 20200609 RGD protein:increased expression:brain (mouse) PMID:26506412|REF_RGD_ID:11344088 11881557 IREB2 iron responsive element binding protein 2 gene DOID:2717 Bloom syndrome ISO RGD:733858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11881557 IREB2 iron responsive element binding protein 2 gene DOID:3910 lung adenocarcinoma ISO RGD:733858 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 11881557 IREB2 iron responsive element binding protein 2 gene DOID:630 genetic disease ISO RGD:733858 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11881557 IREB2 iron responsive element binding protein 2 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:621539 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (rat) PMID:27602087|REF_RGD_ID:12903962 11881557 IREB2 iron responsive element binding protein 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:733858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20390345 11881557 IREB2 iron responsive element binding protein 2 gene DOID:9004756 Brain Hypoxia ISO RGD:621539 D RGD:9068941 20200609 RGD protein:increased expression:periventricular white matter (rat) PMID:22159112|REF_RGD_ID:6893269 11881557 IREB2 iron responsive element binding protein 2 gene DOID:9005725 Iron Overload ISO RGD:621539 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex (rat) PMID:19943190|REF_RGD_ID:6893272 11881557 IREB2 iron responsive element binding protein 2 gene DOID:9006358 Postoperative Cognitive Dysfunction ISO RGD:621539 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:23229539|REF_RGD_ID:12904023 11881557 IREB2 iron responsive element binding protein 2 gene DOID:9008550 Vitamin A Deficiency ISO RGD:621539 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:22154532|REF_RGD_ID:12904026 11881557 IREB2 iron responsive element binding protein 2 gene DOID:9009167 NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA ISO RGD:733858 D RGD:7240710 20190918 OMIM 11881557 IREB2 iron responsive element binding protein 2 gene DOID:9009167 NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA ISO RGD:733858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia PMID:25741868|PMID:28492532|PMID:30915432|PMID:31243445 11881557 IREB2 iron responsive element binding protein 2 gene DOID:9256 colorectal cancer ISO RGD:733858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11881594 PPP1R16B protein phosphatase 1 regulatory subunit 16B gene DOID:2234 focal epilepsy ISO RGD:1322272 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11881594 PPP1R16B protein phosphatase 1 regulatory subunit 16B gene DOID:630 genetic disease ISO RGD:1322272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881613 DHDH dihydrodiol dehydrogenase gene DOID:10283 prostate cancer ISO RGD:1323810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11881613 DHDH dihydrodiol dehydrogenase gene DOID:630 genetic disease ISO RGD:1323810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881613 DHDH dihydrodiol dehydrogenase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1323810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21716162 11881641 ADGRF5 adhesion G protein-coupled receptor F5 gene DOID:630 genetic disease ISO RGD:1347693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881678 RASSF9 Ras association domain family member 9 gene DOID:630 genetic disease ISO RGD:731307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881684 PLCG1 phospholipase C gamma 1 gene DOID:0001816 angiosarcoma ISO RGD:735936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24633157 11881684 PLCG1 phospholipase C gamma 1 gene DOID:0050424 familial adenomatous polyposis ISO RGD:735936 D RGD:9068941 20220218 RGD protein:increased expression:colonic mucosa (human) PMID:8174133|REF_RGD_ID:151356944 11881684 PLCG1 phospholipase C gamma 1 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:735936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 11881684 PLCG1 phospholipase C gamma 1 gene DOID:0050866 oral squamous cell carcinoma ameliorates ISO RGD:735936 D RGD:9068941 20220218 RGD protein:decreased expression:oral cavity (human) PMID:25085076|REF_RGD_ID:151356936 11881684 PLCG1 phospholipase C gamma 1 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:735936 D RGD:9068941 20200609 RGD PMID:26464646|REF_RGD_ID:11526681 11881684 PLCG1 phospholipase C gamma 1 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:735936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 11881684 PLCG1 phospholipase C gamma 1 gene DOID:10652 Alzheimer's disease ISO RGD:735936 D RGD:9068941 20200609 RGD PMID:8534418|REF_RGD_ID:13825140 11881684 PLCG1 phospholipase C gamma 1 gene DOID:1324 lung cancer exacerbates ISO RGD:735937 D RGD:9068941 20220224 RGD PMID:33077911|REF_RGD_ID:151356960 11881684 PLCG1 phospholipase C gamma 1 gene DOID:1612 breast cancer ISO RGD:735936 D RGD:9068941 20200609 RGD PMID:9703922|REF_RGD_ID:2299874 11881684 PLCG1 phospholipase C gamma 1 gene DOID:219 colon cancer treatment ISO RGD:3347 D RGD:9068941 20220218 RGD PMID:7812955|REF_RGD_ID:151356942 11881684 PLCG1 phospholipase C gamma 1 gene DOID:2234 focal epilepsy ISO RGD:735936 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11881684 PLCG1 phospholipase C gamma 1 gene DOID:2876 laryngeal squamous cell carcinoma ameliorates ISO RGD:735936 D RGD:9068941 20220317 RGD mRNA:increased expression:larynx (human) PMID:33466212|REF_RGD_ID:151665160 11881684 PLCG1 phospholipase C gamma 1 gene DOID:3459 breast carcinoma ISO RGD:735936 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:1683701|REF_RGD_ID:2299875 11881684 PLCG1 phospholipase C gamma 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:735936 D RGD:9068941 20220407 RGD human cell line in a mouse model PMID:33928024|REF_RGD_ID:151665816 11881684 PLCG1 phospholipase C gamma 1 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:735936 D RGD:9068941 20220224 RGD protein:decreased expression:lung (human) PMID:33077911|REF_RGD_ID:151356960 11881684 PLCG1 phospholipase C gamma 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11881684 PLCG1 phospholipase C gamma 1 gene DOID:630 genetic disease ISO RGD:735936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881684 PLCG1 phospholipase C gamma 1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:735936 D RGD:9068941 20220218 RGD human cell line in a mouse model PMID:30623526|REF_RGD_ID:151356937 11881684 PLCG1 phospholipase C gamma 1 gene DOID:8541 Sezary's disease ISO RGD:735936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551670 11881684 PLCG1 phospholipase C gamma 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3347 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:lens PMID:17612968|REF_RGD_ID:2299877 11881684 PLCG1 phospholipase C gamma 1 gene DOID:9256 colorectal cancer ISO RGD:735936 D RGD:9068941 20220218 RGD protein:increased expression:colorectum (human) PMID:8275435|REF_RGD_ID:151356938 11881684 PLCG1 phospholipase C gamma 1 gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:3347 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 11881728 TAS2R3 taste 2 receptor member 3 gene DOID:0080690 RASopathy ISO RGD:1345631 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 11881728 TAS2R3 taste 2 receptor member 3 gene DOID:630 genetic disease ISO RGD:1345631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881728 TAS2R3 taste 2 receptor member 3 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1345631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 11881758 ZNF256 zinc finger protein 256 gene DOID:630 genetic disease ISO RGD:1352745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881777 NELFCD negative elongation factor complex member C/D gene DOID:10283 prostate cancer disease_progression ISO RGD:1346942 D RGD:9068941 20200609 RGD PMID:19945309|REF_RGD_ID:9693724 11881777 NELFCD negative elongation factor complex member C/D gene DOID:630 genetic disease ISO RGD:1346942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881794 TCERG1L transcription elongation regulator 1 like gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1346689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11881794 TCERG1L transcription elongation regulator 1 like gene DOID:630 genetic disease ISO RGD:1346689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881794 TCERG1L transcription elongation regulator 1 like gene DOID:9008443 Colorectal Neoplasms ISO RGD:1346689 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 11881813 NOG noggin gene DOID:0050777 Joubert syndrome ISO RGD:735776 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11881813 NOG noggin gene DOID:0050788 proximal symphalangism ISO RGD:735776 D RGD:9068941 20201022 RGD PMID:10080184|REF_RGD_ID:1600234 11881813 NOG noggin gene DOID:0050788 proximal symphalangism ISO RGD:735776 D RGD:9068941 20201022 RGD DNA:missense mutation:cds:c.499C>T(p.R167C)human PMID:24326127|REF_RGD_ID:12801479 11881813 NOG noggin gene DOID:0050788 proximal symphalangism ISO RGD:735776 D RGD:9068941 20201022 RGD DNA:mutations:cds:g.551G>A (p.C184Y),g.386T>A (p.L129X),g.58delC(human) PMID:11846737|REF_RGD_ID:12801455 11881813 NOG noggin gene DOID:0050788 proximal symphalangism ISO RGD:735776 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism 11881813 NOG noggin gene DOID:0050789 tarsal-carpal coalition syndrome ISO RGD:735776 D RGD:7240710 20180130 OMIM 11881813 NOG noggin gene DOID:0050789 tarsal-carpal coalition syndrome ISO RGD:735776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tarsal-carpal coalition syndrome PMID:10080184|PMID:11545688|PMID:17245852|PMID:17668388|PMID:25741868|PMID:28492532|PMID:29159868|PMID:4019538|PMID:7557985 11881813 NOG noggin gene DOID:0080171 esophageal atresia/tracheoesophageal fistula ISO RGD:10989 D RGD:9068941 20200609 RGD PMID:17260385|REF_RGD_ID:12801454 11881813 NOG noggin gene DOID:0080171 esophageal atresia/tracheoesophageal fistula ISO RGD:10989 D RGD:9068941 20220825 MouseDO OMIM:189960 11881813 NOG noggin gene DOID:0080600 COVID-19 ISO RGD:735776 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11881813 NOG noggin gene DOID:0080787 proximal symphalangism 1 ISO RGD:735776 D RGD:7240710 20201021 OMIM 11881813 NOG noggin gene DOID:0080787 proximal symphalangism 1 ISO RGD:735776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Proximal symphalangism 1A PMID:10080184|PMID:11160400|PMID:11545688|PMID:11846737|PMID:11857750|PMID:17245852|PMID:17668388|PMID:18440889|PMID:25741868|PMID:28492532|PMID:7557985|PMID:9851982 11881813 NOG noggin gene DOID:0081317 multiple synostoses syndrome 1 ISO RGD:735776 D RGD:7240710 20180130 OMIM 11881813 NOG noggin gene DOID:0081317 multiple synostoses syndrome 1 ISO RGD:735776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome PMID:10080184|PMID:11846737|PMID:15770128|PMID:16532400|PMID:17609215|PMID:20503332|PMID:25741868|PMID:3667255|PMID:6638061 11881813 NOG noggin gene DOID:0110975 brachydactyly type B2 ISO RGD:735776 D RGD:7240710 20180130 OMIM 11881813 NOG noggin gene DOID:0110975 brachydactyly type B2 ISO RGD:735776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly type B2 PMID:11160400|PMID:11857750|PMID:17668388|PMID:18440889|PMID:25741868|PMID:28492532|PMID:29159868|PMID:34008892|PMID:9851982 11881813 NOG noggin gene DOID:0110975 brachydactyly type B2 no_association ISO RGD:735776 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.G92E(human) PMID:22529972|REF_RGD_ID:12801483 11881813 NOG noggin gene DOID:10652 Alzheimer's disease ISO RGD:10989 D RGD:9068941 20200609 RGD PMID:19463786|REF_RGD_ID:10414082 11881813 NOG noggin gene DOID:11476 osteoporosis ISO RGD:10989 D RGD:9068941 20200609 RGD PMID:12975477|REF_RGD_ID:10414323 11881813 NOG noggin gene DOID:12556 acute kidney tubular necrosis ISO RGD:3183 D RGD:9068941 20200609 RGD associated with Kidney Reperfusion Injury PMID:16284088|REF_RGD_ID:1601494 11881813 NOG noggin gene DOID:12858 Huntington's disease treatment ISO RGD:735776 D RGD:9068941 20200609 RGD PMID:17885687|REF_RGD_ID:10415531 11881813 NOG noggin gene DOID:2340 craniosynostosis treatment ISO RGD:735776 D RGD:9068941 20200609 RGD PMID:19627528|REF_RGD_ID:8547554 11881813 NOG noggin gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:735776 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:mononuclear cell" PMID:21111488|REF_RGD_ID:12801480 11881813 NOG noggin gene DOID:5394 prolactinoma ISO RGD:10989 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:pituitary PMID:12552124|REF_RGD_ID:629544 11881813 NOG noggin gene DOID:630 genetic disease ISO RGD:735776 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16532400|PMID:25241334|PMID:28492532 11881813 NOG noggin gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:10989 D RGD:9068941 20200609 RGD PMID:18221366|REF_RGD_ID:10429192 11881813 NOG noggin gene DOID:9001240 Peripheral Nerve Injuries treatment ISO RGD:10989 D RGD:9068941 20200609 RGD PMID:17258709|REF_RGD_ID:10428775 11881813 NOG noggin gene DOID:9003483 Conductive Hearing Loss ISO RGD:10989 D RGD:9068941 20200609 RGD PMID:18096605|REF_RGD_ID:12801451 11881813 NOG noggin gene DOID:9004791 Stapes Ankylosis with Broad Thumbs and Toes ISO RGD:735776 D RGD:7240710 20200311 OMIM 11881813 NOG noggin gene DOID:9004791 Stapes Ankylosis with Broad Thumbs and Toes ISO RGD:735776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stapes ankylosis with broad thumbs and toes PMID:10069712|PMID:11160400|PMID:11857750|PMID:12089654|PMID:17668388|PMID:18440889|PMID:26474326|PMID:28492532|PMID:9851982 11881813 NOG noggin gene DOID:9005616 Micrognathism ISO RGD:735776 D RGD:9068941 20200609 RGD DNA:SNP:rs1348322(human) PMID:20645637|REF_RGD_ID:12801465 11881813 NOG noggin gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:3183 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:lung: PMID:25740156|REF_RGD_ID:12801489 11881813 NOG noggin gene DOID:9296 cleft lip susceptibility ISO RGD:735776 D RGD:9068941 20200609 RGD DNA:SNP: : rs227727 (human) PMID:25704602|REF_RGD_ID:11251786 11881813 NOG noggin gene DOID:9296 cleft lip susceptibility ISO RGD:735776 D RGD:9068941 20200609 RGD DNA:SNP: :rs227731(human) PMID:25339627|REF_RGD_ID:12801482 11881813 NOG noggin gene DOID:9352 type 2 diabetes mellitus ISO RGD:10989 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta PMID:21193740|REF_RGD_ID:10430114 11881813 NOG noggin gene DOID:9352 type 2 diabetes mellitus ISO RGD:3183 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta PMID:21193740|REF_RGD_ID:10430114 11881813 NOG noggin gene DOID:9744 type 1 diabetes mellitus ISO RGD:10989 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta PMID:21193740|REF_RGD_ID:10430114 11881813 NOG noggin gene DOID:9834 hyperopia ISO RGD:735776 D RGD:9068941 20200609 RGD associated with Multiple Synostoses Syndrome 1; DNA:mutation:cds:1426G>C (P.W205C)(Human) PMID:16151340|REF_RGD_ID:12801467 11881823 DHX33 DEAH-box helicase 33 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1316314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 11881823 DHX33 DEAH-box helicase 33 gene DOID:630 genetic disease ISO RGD:1316314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881842 TRIM68 tripartite motif containing 68 gene DOID:0080773 delta beta-thalassemia ISO RGD:1344713 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11881842 TRIM68 tripartite motif containing 68 gene DOID:630 genetic disease ISO RGD:1344713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881854 AP1AR adaptor related protein complex 1 associated regulatory protein gene DOID:12271 aniridia ISO RGD:1347570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 11881854 AP1AR adaptor related protein complex 1 associated regulatory protein gene DOID:630 genetic disease ISO RGD:1347570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881881 CNIH1 cornichon family AMPA receptor auxiliary protein 1 gene DOID:0090043 dystonia 5 ISO RGD:1323800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia 5 PMID:17111153|PMID:19332422|PMID:19491146|PMID:25557619|PMID:28492532|PMID:9667588 11881881 CNIH1 cornichon family AMPA receptor auxiliary protein 1 gene DOID:0111805 syndromic microphthalmia 6 ISO RGD:1323800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies PMID:18252212|PMID:21340693|PMID:28492532 11881913 DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736541 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11881913 DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:736541 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11881913 DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:736541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11881913 DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:736541 D RGD:7240710 20180130 OMIM 11881913 DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:736541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:17576681|PMID:18414213|PMID:19901254|PMID:23109149|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33129689|PMID:9536098 11881913 DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736541 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11881913 DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:736541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:15879500|PMID:20414677|PMID:28492532 11881913 DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory gene DOID:630 genetic disease ISO RGD:736541 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881927 ZNF2 zinc finger protein 2 gene DOID:630 genetic disease ISO RGD:1320138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881941 SLC5A5 solute carrier family 5 member 5 gene DOID:0050328 congenital hypothyroidism ISO RGD:731751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:10487695|PMID:3998954 11881941 SLC5A5 solute carrier family 5 member 5 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:731751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative PMID:28492532 11881941 SLC5A5 solute carrier family 5 member 5 gene DOID:0112183 familial thyroid dyshormonogenesis ISO RGD:731751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid Hormonogenesis Defect 11881941 SLC5A5 solute carrier family 5 member 5 gene DOID:0112185 thyroid dyshormonogenesis 1 ISO RGD:731751 D RGD:7240710 20180130 OMIM 11881941 SLC5A5 solute carrier family 5 member 5 gene DOID:0112185 thyroid dyshormonogenesis 1 ISO RGD:731751 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1 | ClinVar Annotator: match by term: IODINE ACCUMULATION, TRANSPORT, OR TRAPPING DEFECT | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1 PMID:10487695|PMID:10902780|PMID:12161518|PMID:21565787|PMID:25525159|PMID:25741868|PMID:28492532|PMID:32805706|PMID:3451231|PMID:3998954|PMID:9171822|PMID:9388506|PMID:9398697|PMID:9486973|PMID:9657379|PMID:9709973|PMID:9745458|PMID:9814502 11881941 SLC5A5 solute carrier family 5 member 5 gene DOID:13938 amenorrhea ISO RGD:731751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11881941 SLC5A5 solute carrier family 5 member 5 gene DOID:14566 disease of cellular proliferation ISO RGD:731751 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15522214 11881941 SLC5A5 solute carrier family 5 member 5 gene DOID:1909 melanoma ISO RGD:731751 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12489024 11881941 SLC5A5 solute carrier family 5 member 5 gene DOID:3070 high grade glioma ISO RGD:731751 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12489024 11881941 SLC5A5 solute carrier family 5 member 5 gene DOID:4947 cholangiocarcinoma ISO RGD:731751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17408651 11881941 SLC5A5 solute carrier family 5 member 5 gene DOID:630 genetic disease ISO RGD:731751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881941 SLC5A5 solute carrier family 5 member 5 gene DOID:684 hepatocellular carcinoma ISO RGD:731751 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15347726|PMID:15520214 11881941 SLC5A5 solute carrier family 5 member 5 gene DOID:9002265 Kidney Neoplasms ISO RGD:731751 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12489024 11881941 SLC5A5 solute carrier family 5 member 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731751 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12489024|PMID:14633711 11881941 SLC5A5 solute carrier family 5 member 5 gene DOID:9002762 Ovarian Neoplasms ISO RGD:731751 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12489024 11881941 SLC5A5 solute carrier family 5 member 5 gene DOID:9003214 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative ISO RGD:731751 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type PMID:28492532 11881941 SLC5A5 solute carrier family 5 member 5 gene DOID:9004547 Thyroid Neoplasms ISO RGD:731751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16954431|PMID:17045167 11881941 SLC5A5 solute carrier family 5 member 5 gene DOID:9008939 Breast Neoplasms ISO RGD:731751 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12489024 11881941 SLC5A5 solute carrier family 5 member 5 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:731751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11881961 RASD1 ras related dexamethasone induced 1 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:731548 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 11881961 RASD1 ras related dexamethasone induced 1 gene DOID:0050777 Joubert syndrome ISO RGD:731548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11881961 RASD1 ras related dexamethasone induced 1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:731548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 11881961 RASD1 ras related dexamethasone induced 1 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:731548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 11881961 RASD1 ras related dexamethasone induced 1 gene DOID:12849 autistic disorder ISO RGD:731548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11881961 RASD1 ras related dexamethasone induced 1 gene DOID:630 genetic disease ISO RGD:731548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881961 RASD1 ras related dexamethasone induced 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731548 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11881967 KRT32 keratin 32 gene DOID:4450 renal cell carcinoma ISO RGD:1313247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 11881967 KRT32 keratin 32 gene DOID:630 genetic disease ISO RGD:1313247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881978 PCIF1 phosphorylated CTD interacting factor 1 gene DOID:2234 focal epilepsy ISO RGD:1321911 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11881978 PCIF1 phosphorylated CTD interacting factor 1 gene DOID:630 genetic disease ISO RGD:1321911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11881978 PCIF1 phosphorylated CTD interacting factor 1 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1321911 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11881999 MROH6 maestro heat like repeat family member 6 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1603139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11881999 MROH6 maestro heat like repeat family member 6 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1603139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11881999 MROH6 maestro heat like repeat family member 6 gene DOID:1059 intellectual disability ISO RGD:1603139 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability PMID:30787422 11881999 MROH6 maestro heat like repeat family member 6 gene DOID:4621 holoprosencephaly ISO RGD:1603139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11881999 MROH6 maestro heat like repeat family member 6 gene DOID:630 genetic disease ISO RGD:1603139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882016 RDH11 retinol dehydrogenase 11 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1323753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 11882016 RDH11 retinol dehydrogenase 11 gene DOID:607 paraplegia ISO RGD:1323753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11882016 RDH11 retinol dehydrogenase 11 gene DOID:630 genetic disease ISO RGD:1323753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11882016 RDH11 retinol dehydrogenase 11 gene DOID:9000849 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome ISO RGD:1323753 D RGD:7240710 20180130 OMIM 11882016 RDH11 retinol dehydrogenase 11 gene DOID:9000849 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome ISO RGD:1323753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy, juvenile cataracts, and short stature syndrome PMID:24916380|PMID:25741868|PMID:28492532 11882027 KPNA4 karyopherin subunit alpha 4 gene DOID:630 genetic disease ISO RGD:1322966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882048 PGPEP1 pyroglutamyl-peptidase I gene DOID:10283 prostate cancer ISO RGD:1348411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11882048 PGPEP1 pyroglutamyl-peptidase I gene DOID:630 genetic disease ISO RGD:1348411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882048 PGPEP1 pyroglutamyl-peptidase I gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1348411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11882064 HEATR3 HEAT repeat containing 3 gene DOID:0111122 nephronophthisis 14 ISO RGD:1602884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 11882064 HEATR3 HEAT repeat containing 3 gene DOID:0111895 Diamond-Blackfan anemia 1 ISO RGD:1602884 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 PMID:25741868|PMID:35213692 11882064 HEATR3 HEAT repeat containing 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:35213692 11882064 HEATR3 HEAT repeat containing 3 gene DOID:630 genetic disease ISO RGD:1602884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882064 HEATR3 HEAT repeat containing 3 gene DOID:9002367 Diamond-Blackfan Anemia 21 ISO RGD:1602884 D RGD:7240710 20221102 OMIM 11882064 HEATR3 HEAT repeat containing 3 gene DOID:9002367 Diamond-Blackfan Anemia 21 ISO RGD:1602884 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 21 PMID:25741868|PMID:35213692 11882086 MMP23B matrix metallopeptidase 23B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1344169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11882086 MMP23B matrix metallopeptidase 23B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1344169 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11882086 MMP23B matrix metallopeptidase 23B gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1344169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11882086 MMP23B matrix metallopeptidase 23B gene DOID:0080600 COVID-19 ISO RGD:1344169 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11882086 MMP23B matrix metallopeptidase 23B gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1344169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11882086 MMP23B matrix metallopeptidase 23B gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1344169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11882086 MMP23B matrix metallopeptidase 23B gene DOID:0110994 Joubert syndrome 25 ISO RGD:1344169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11882086 MMP23B matrix metallopeptidase 23B gene DOID:0111934 immunodeficiency 38 ISO RGD:1344169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11882086 MMP23B matrix metallopeptidase 23B gene DOID:0111935 immunodeficiency 16 ISO RGD:1344169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11882086 MMP23B matrix metallopeptidase 23B gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11882086 MMP23B matrix metallopeptidase 23B gene DOID:630 genetic disease ISO RGD:1344169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882086 MMP23B matrix metallopeptidase 23B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11882086 MMP23B matrix metallopeptidase 23B gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1344169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11882086 MMP23B matrix metallopeptidase 23B gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1344169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11882101 TAS2R16 taste 2 receptor member 16 gene DOID:1574 alcohol use disorder ISO RGD:1343606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alcohol dependence, susceptibility to PMID:10923994|PMID:16051168|PMID:16385453|PMID:17250611|PMID:24177185|PMID:9603606 11882101 TAS2R16 taste 2 receptor member 16 gene DOID:1574 alcohol use disorder susceptibility ISO RGD:1343606 D RGD:7240710 20230517 OMIM 11882101 TAS2R16 taste 2 receptor member 16 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11882101 TAS2R16 taste 2 receptor member 16 gene DOID:630 genetic disease ISO RGD:1343606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882106 ZNF576 zinc finger protein 576 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1353037 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 11882106 ZNF576 zinc finger protein 576 gene DOID:5419 schizophrenia ISO RGD:1353037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11882106 ZNF576 zinc finger protein 576 gene DOID:630 genetic disease ISO RGD:1353037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882126 MORC2 MORC family CW-type zinc finger 2 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1321976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I 11882126 MORC2 MORC family CW-type zinc finger 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1321976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 11882126 MORC2 MORC family CW-type zinc finger 2 gene DOID:0110181 Charcot-Marie-Tooth disease axonal type 2Z ISO RGD:1321976 D RGD:7240710 20180130 OMIM 11882126 MORC2 MORC family CW-type zinc finger 2 gene DOID:0110181 Charcot-Marie-Tooth disease axonal type 2Z ISO RGD:1321976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Z | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2Z PMID:12601114|PMID:16199547|PMID:17576681|PMID:25741868|PMID:25741893|PMID:26497905|PMID:26659848|PMID:26912637|PMID:27105897|PMID:27105987|PMID:27329773|PMID:27794525|PMID:28135719|PMID:28334961|PMID:28402445|PMID:28492532|PMID:28581500|PMID:28771897|PMID:29440755|PMID:30624633|PMID:31211173|PMID:31618753|PMID:31785789|PMID:32693025|PMID:33844363|PMID:34059105|PMID:34189813|PMID:7964809|PMID:9536098 11882126 MORC2 MORC family CW-type zinc finger 2 gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:1321976 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy PMID:28492532 11882126 MORC2 MORC family CW-type zinc finger 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1321976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:12601114|PMID:25741868|PMID:25741893|PMID:26497905|PMID:26659848|PMID:26912637|PMID:27105897|PMID:27105987|PMID:28492532|PMID:28581500|PMID:28771897|PMID:29440755|PMID:30624633|PMID:31211173|PMID:32693025|PMID:33844363|PMID:34059105|PMID:34189813|PMID:7964809 11882126 MORC2 MORC family CW-type zinc finger 2 gene DOID:12377 spinal muscular atrophy ISO RGD:1321976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:12601114|PMID:25741868|PMID:26497905|PMID:26659848|PMID:26912637|PMID:27105897|PMID:27105987|PMID:28492532|PMID:28581500|PMID:28771897|PMID:29440755|PMID:30624633|PMID:7964809 11882126 MORC2 MORC family CW-type zinc finger 2 gene DOID:630 genetic disease ISO RGD:1321976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12601114|PMID:17576681|PMID:25741868|PMID:25741893|PMID:26497905|PMID:26659848|PMID:26912637|PMID:27105897|PMID:27105987|PMID:27329773|PMID:27794525|PMID:28135719|PMID:28334961|PMID:28402445|PMID:28492532|PMID:28581500|PMID:28771897|PMID:29440755|PMID:30624633|PMID:31211173|PMID:32693025|PMID:34059105|PMID:7964809|PMID:9536098 11882126 MORC2 MORC family CW-type zinc finger 2 gene DOID:9001354 DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY ISO RGD:1321976 D RGD:7240710 20210217 OMIM 11882126 MORC2 MORC family CW-type zinc finger 2 gene DOID:9001354 DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY ISO RGD:1321976 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy PMID:25741868|PMID:26497905|PMID:28135719|PMID:28492532|PMID:28581500|PMID:28771897|PMID:29440755|PMID:30624633|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105 11882126 MORC2 MORC family CW-type zinc finger 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321976 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28135719|PMID:28492532|PMID:31618753|PMID:31785789|PMID:32693025 11882126 MORC2 MORC family CW-type zinc finger 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1321976 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741893|PMID:26497905|PMID:27105897|PMID:28492532|PMID:29440755|PMID:30624633|PMID:31211173|PMID:32693025|PMID:34059105 11882165 GPRASP2 G protein-coupled receptor associated sorting protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1614131 D RGD:9068941 20220825 MouseDO 11882165 GPRASP2 G protein-coupled receptor associated sorting protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11882165 GPRASP2 G protein-coupled receptor associated sorting protein 2 gene DOID:0111738 X-linked deafness 7 ISO RGD:1346303 D RGD:7240710 20200325 OMIM 11882165 GPRASP2 G protein-coupled receptor associated sorting protein 2 gene DOID:0111738 X-linked deafness 7 ISO RGD:1346303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome PMID:25741868 11882165 GPRASP2 G protein-coupled receptor associated sorting protein 2 gene DOID:1059 intellectual disability ISO RGD:1614131 D RGD:9068941 20220825 MouseDO 11882165 GPRASP2 G protein-coupled receptor associated sorting protein 2 gene DOID:12849 autistic disorder ISO RGD:1346303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11882165 GPRASP2 G protein-coupled receptor associated sorting protein 2 gene DOID:630 genetic disease ISO RGD:1346303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882179 LARGE2 LARGE xylosyl- and glucuronyltransferase 2 gene DOID:0050444 infantile Refsum disease ISO RGD:1605885 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 11882179 LARGE2 LARGE xylosyl- and glucuronyltransferase 2 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1605885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11882179 LARGE2 LARGE xylosyl- and glucuronyltransferase 2 gene DOID:1059 intellectual disability ISO RGD:1605885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11882179 LARGE2 LARGE xylosyl- and glucuronyltransferase 2 gene DOID:630 genetic disease ISO RGD:1605885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882179 LARGE2 LARGE xylosyl- and glucuronyltransferase 2 gene DOID:905 Zellweger syndrome ISO RGD:1605885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 11882197 EPHX3 epoxide hydrolase 3 gene DOID:1909 melanoma ISO RGD:1316262 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 11882197 EPHX3 epoxide hydrolase 3 gene DOID:630 genetic disease ISO RGD:1316262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882197 EPHX3 epoxide hydrolase 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1316262 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11882208 RBM43 RNA binding motif protein 43 gene DOID:630 genetic disease ISO RGD:1604694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882230 CNMD chondromodulin gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1347278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11882230 CNMD chondromodulin gene DOID:1059 intellectual disability ISO RGD:1347278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11882230 CNMD chondromodulin gene DOID:630 genetic disease ISO RGD:1347278 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882255 KRIT1 KRIT1 ankyrin repeat containing gene DOID:0060669 cerebral cavernous malformation ISO RGD:1314251 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation PMID:10508515|PMID:10545614|PMID:10814716|PMID:11161805|PMID:11222804|PMID:11914398|PMID:11941540|PMID:11959162|PMID:12404106|PMID:12810002|PMID:12854741|PMID:14755725|PMID:15079030|PMID:16199547|PMID:16321204|PMID:16571644|PMID:17277691|PMID:17440989|PMID:17576681|PMID:18300272|PMID:18380023|PMID:18383588|PMID:19088123|PMID:19099113|PMID:19454328|PMID:19763152|PMID:20301470|PMID:20306072|PMID:20307669|PMID:20419355|PMID:21029238|PMID:22406018|PMID:23584803|PMID:23595507|PMID:24401931|PMID:24466005|PMID:24689081|PMID:24721395|PMID:25525159|PMID:25525273|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26682556|PMID:27766163|PMID:27792856|PMID:28000143|PMID:28492532|PMID:28645800|PMID:28745674|PMID:28867399|PMID:29593473|PMID:30161288|PMID:31124307|PMID:31254430|PMID:33891857|PMID:33911302|PMID:3393196|PMID:34634677|PMID:34964173|PMID:7898703|PMID:9065560|PMID:9536098 11882255 KRIT1 KRIT1 ankyrin repeat containing gene DOID:0060669 cerebral cavernous malformation susceptibility ISO RGD:1314251 D RGD:9068941 20200609 RGD PMID:15079030|REF_RGD_ID:1598379 11882255 KRIT1 KRIT1 ankyrin repeat containing gene DOID:0080491 cerebral cavernous malformation 1 ISO RGD:1314251 D RGD:7240710 20190227 OMIM 11882255 KRIT1 KRIT1 ankyrin repeat containing gene DOID:0080491 cerebral cavernous malformation 1 ISO RGD:1314251 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 1 PMID:10508515|PMID:10545614|PMID:10814716|PMID:11222804|PMID:11914398|PMID:11941540|PMID:12404106|PMID:12854741|PMID:14755725|PMID:16571644|PMID:17562932|PMID:19088123|PMID:19454328|PMID:20301470|PMID:24401931|PMID:24689081|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29593473|PMID:3393196|PMID:7898703|PMID:9065560 11882255 KRIT1 KRIT1 ankyrin repeat containing gene DOID:1826 epilepsy ISO RGD:1314251 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11882255 KRIT1 KRIT1 ankyrin repeat containing gene DOID:2843 long QT syndrome ISO RGD:1314251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11882255 KRIT1 KRIT1 ankyrin repeat containing gene DOID:483 cavernous hemangioma ISO RGD:1314251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cavernous hemangioma PMID:10508515|PMID:10545614|PMID:11222804|PMID:12404106|PMID:23595507|PMID:24466005|PMID:24689081|PMID:25741868|PMID:28492532 11882255 KRIT1 KRIT1 ankyrin repeat containing gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11882255 KRIT1 KRIT1 ankyrin repeat containing gene DOID:630 genetic disease ISO RGD:1314251 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25525273|PMID:25741868|PMID:28492532|PMID:9536098 11882255 KRIT1 KRIT1 ankyrin repeat containing gene DOID:8725 vascular dementia ISO RGD:1314251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:33268848 11882255 KRIT1 KRIT1 ankyrin repeat containing gene DOID:9000043 Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas ISO RGD:1314251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas PMID:20419355|PMID:25525273|PMID:25741868|PMID:26467025|PMID:28492532 11882255 KRIT1 KRIT1 ankyrin repeat containing gene DOID:9002924 Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations ISO RGD:1314251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations PMID:10814716 11882255 KRIT1 KRIT1 ankyrin repeat containing gene DOID:9008078 Cavernous Malformations of CNS and Retina ISO RGD:1314251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cavernous malformations of CNS and retina PMID:11831930 11882339 VSTM4 V-set and transmembrane domain containing 4 gene DOID:11372 megacolon ISO RGD:1321317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11882339 VSTM4 V-set and transmembrane domain containing 4 gene DOID:5419 schizophrenia ISO RGD:1321317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11882339 VSTM4 V-set and transmembrane domain containing 4 gene DOID:630 genetic disease ISO RGD:1321317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882345 KCNQ4 potassium voltage-gated channel subfamily Q member 4 gene DOID:0050563 nonsyndromic deafness ISO RGD:736263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:10025409|PMID:10369879|PMID:18786918|PMID:20832469|PMID:20966080|PMID:23717403|PMID:23750663|PMID:24033266|PMID:25116015|PMID:25741868|PMID:28492532|PMID:30311386|PMID:8035838 11882345 KCNQ4 potassium voltage-gated channel subfamily Q member 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:736263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11882345 KCNQ4 potassium voltage-gated channel subfamily Q member 4 gene DOID:0110558 autosomal dominant nonsyndromic deafness 2A ISO RGD:736263 D RGD:7240710 20180130 OMIM 11882345 KCNQ4 potassium voltage-gated channel subfamily Q member 4 gene DOID:0110558 autosomal dominant nonsyndromic deafness 2A ISO RGD:736263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 2A | ClinVar Annotator: match by term: DFNA 2 Nonsyndromic Hearing Loss | ClinVar Annotator: match by term: Deafness, autosomal dominant 2A PMID:10025409|PMID:10369879|PMID:10571947|PMID:10925378|PMID:11450843|PMID:11915881|PMID:12112653|PMID:15699719|PMID:16596322|PMID:18030493|PMID:18786918|PMID:18797286|PMID:20301388|PMID:20832469|PMID:20966080|PMID:21242547|PMID:21951272|PMID:22384008|PMID:22420747|PMID:23451214|PMID:23717403|PMID:23750663|PMID:24033266|PMID:25116015|PMID:25741868|PMID:26036578|PMID:26467025|PMID:26515070|PMID:27068579|PMID:28492532|PMID:30311386|PMID:30413759|PMID:31028865|PMID:31995783|PMID:8035838|PMID:9126484 11882345 KCNQ4 potassium voltage-gated channel subfamily Q member 4 gene DOID:10003 sensorineural hearing loss ISO RGD:736263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:19461658|PMID:27081546|PMID:30311386|PMID:34652575 11882345 KCNQ4 potassium voltage-gated channel subfamily Q member 4 gene DOID:630 genetic disease ISO RGD:736263 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30311386 11882345 KCNQ4 potassium voltage-gated channel subfamily Q member 4 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:736263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16823764 11882345 KCNQ4 potassium voltage-gated channel subfamily Q member 4 gene DOID:9004538 Hearing Loss ISO RGD:736263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30311386 11882363 PRR15L proline rich 15 like gene DOID:630 genetic disease ISO RGD:1601848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882373 LOC100989841 histone H2B type 1-C/E/F/G/I gene DOID:3910 lung adenocarcinoma ISO RGD:1344863 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11882373 LOC100989841 histone H2B type 1-C/E/F/G/I gene DOID:9006205 Animal Disease Models ISO RGD:1344863 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11882373 LOC100989841 histone H2B type 1-C/E/F/G/I gene DOID:9008939 Breast Neoplasms ISO RGD:1344863 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 11882379 GRID1 glutamate ionotropic receptor delta type subunit 1 gene DOID:10283 prostate cancer ISO RGD:68523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11882379 GRID1 glutamate ionotropic receptor delta type subunit 1 gene DOID:630 genetic disease ISO RGD:68523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882379 GRID1 glutamate ionotropic receptor delta type subunit 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:68523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 11882395 OGFOD1 2-oxoglutarate and iron dependent oxygenase domain containing 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605373 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11882395 OGFOD1 2-oxoglutarate and iron dependent oxygenase domain containing 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605373 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11882395 OGFOD1 2-oxoglutarate and iron dependent oxygenase domain containing 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11882395 OGFOD1 2-oxoglutarate and iron dependent oxygenase domain containing 1 gene DOID:630 genetic disease ISO RGD:1605373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882439 MTMR9 myotubularin related protein 9 gene DOID:630 genetic disease ISO RGD:735915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882439 MTMR9 myotubularin related protein 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11882441 HOXB7 homeobox B7 gene DOID:3008 invasive ductal carcinoma ISO RGD:1349103 D RGD:9068941 20200609 RGD mRNA:increased expression:breast epithelium (human) PMID:17018609|REF_RGD_ID:10402178 11882441 HOXB7 homeobox B7 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1349103 D RGD:9068941 20200609 RGD protein:increased expression:esophageal mucosa (human) PMID:26076456|REF_RGD_ID:10402177 11882441 HOXB7 homeobox B7 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1349103 D RGD:9068941 20200609 RGD protein:increased expression:lung epithelium (human) PMID:22911672|REF_RGD_ID:10402176 11882441 HOXB7 homeobox B7 gene DOID:630 genetic disease ISO RGD:1349103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882447 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:0050567 orofacial cleft ISO RGD:1313743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Facial cleft PMID:25741868 11882447 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1313743 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11882447 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:0112368 Coffin-Siris syndrome 5 ISO RGD:1313743 D RGD:7240710 20190315 OMIM 11882447 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:0112368 Coffin-Siris syndrome 5 ISO RGD:1313743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 5 PMID:22426308|PMID:23906836|PMID:25741868|PMID:28492532 11882447 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:1059 intellectual disability ISO RGD:1313743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11882447 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:1925 Coffin-Siris syndrome ISO RGD:1313743 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:22426308 11882447 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:3565 meningioma ISO RGD:1313743 D RGD:9068941 20220414 RGD DNA:multiple:multiple (human) PMID:29409008|REF_RGD_ID:151708704 11882447 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:3565 meningioma ISO RGD:1313743 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35681054 11882447 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:4586 familial meningioma ISO RGD:1313743 D RGD:7240710 20230505 OMIM 11882447 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:4586 familial meningioma ISO RGD:1313743 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial meningioma PMID:16199547|PMID:17576681|PMID:22426308|PMID:23377182|PMID:25169753|PMID:25741868|PMID:26803492|PMID:27891692|PMID:28492532|PMID:29625052|PMID:30209809|PMID:9536098 11882447 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:630 genetic disease ISO RGD:1313743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11882447 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:23377182|PMID:25169753|PMID:25741868|PMID:28166811|PMID:28492532 11882447 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313743 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:23377182|PMID:25169753|PMID:25741868|PMID:28492532|PMID:29625052 11882447 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313743 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:23377182|PMID:25169753|PMID:25741868|PMID:26803492|PMID:28492532|PMID:29625052|PMID:30209809|PMID:9536098 11882447 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313743 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:23377182|PMID:25169753|PMID:25741868|PMID:26803492|PMID:27891692|PMID:28492532|PMID:29625052|PMID:30209809|PMID:9536098 11882462 SLC17A9 solute carrier family 17 member 9 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1323655 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11882462 SLC17A9 solute carrier family 17 member 9 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1323655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11882462 SLC17A9 solute carrier family 17 member 9 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1323655 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11882462 SLC17A9 solute carrier family 17 member 9 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1323655 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11882462 SLC17A9 solute carrier family 17 member 9 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1323655 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11882462 SLC17A9 solute carrier family 17 member 9 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1323655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 11882462 SLC17A9 solute carrier family 17 member 9 gene DOID:630 genetic disease ISO RGD:1323655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882462 SLC17A9 solute carrier family 17 member 9 gene DOID:9006909 Porokeratosis, Disseminated Superficial Actinic, 8 ISO RGD:1323655 D RGD:7240710 20180130 OMIM 11882462 SLC17A9 solute carrier family 17 member 9 gene DOID:9006909 Porokeratosis, Disseminated Superficial Actinic, 8 ISO RGD:1323655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Porokeratosis 8, disseminated superficial actinic type PMID:25180256|PMID:25741868 11882505 GIMAP2 GTPase, IMAP family member 2 gene DOID:2843 long QT syndrome ISO RGD:1346525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 11882505 GIMAP2 GTPase, IMAP family member 2 gene DOID:630 genetic disease ISO RGD:1346525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882537 CCDC13 coiled-coil domain containing 13 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1350707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 11882537 CCDC13 coiled-coil domain containing 13 gene DOID:630 genetic disease ISO RGD:1350707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882557 SLC43A3 solute carrier family 43 member 3 gene DOID:0080600 COVID-19 ISO RGD:1323779 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11882557 SLC43A3 solute carrier family 43 member 3 gene DOID:1059 intellectual disability ISO RGD:1323779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11882557 SLC43A3 solute carrier family 43 member 3 gene DOID:2986 IgA glomerulonephritis ISO RGD:1323779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 11882557 SLC43A3 solute carrier family 43 member 3 gene DOID:630 genetic disease ISO RGD:1323779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882594 HK1 hexokinase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:25741868|PMID:28492532|PMID:30778173 11882594 HK1 hexokinase 1 gene DOID:0080600 COVID-19 ISO RGD:737450 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11882594 HK1 hexokinase 1 gene DOID:0110196 Charcot-Marie-Tooth disease type 4G ISO RGD:737450 D RGD:7240710 20180130 OMIM 11882594 HK1 hexokinase 1 gene DOID:0110196 Charcot-Marie-Tooth disease type 4G ISO RGD:737450 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4G | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4G | ClinVar Annotator: match by term: Neuropathy, hereditary motor and sensory, Russe type PMID:10915613|PMID:11601496|PMID:17576681|PMID:19536174|PMID:22978647|PMID:23996628|PMID:25741868|PMID:28492532|PMID:30778173|PMID:9536098 11882594 HK1 hexokinase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:737450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:30778173 11882594 HK1 hexokinase 1 gene DOID:10923 sickle cell anemia ISO RGD:737450 D RGD:9068941 20200609 RGD protein:alternative form:erythrocyte PMID:5686464|REF_RGD_ID:11353884 11882594 HK1 hexokinase 1 gene DOID:11054 urinary bladder cancer treatment ISO RGD:2796 D RGD:9068941 20200609 RGD PMID:23893687|REF_RGD_ID:11353960 11882594 HK1 hexokinase 1 gene DOID:1826 epilepsy ISO RGD:737450 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11882594 HK1 hexokinase 1 gene DOID:2355 anemia ISO RGD:737450 D RGD:9068941 20200609 RGD DNA:SNP: :rs7072268 (human) PMID:19651813|REF_RGD_ID:11353879 11882594 HK1 hexokinase 1 gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:10710 D RGD:9068941 20200609 RGD DNA, protein:insertion, decreased activity:intron, kidney, spleen, erythrocyte PMID:11783948|REF_RGD_ID:11353878 11882594 HK1 hexokinase 1 gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:737450 D RGD:9068941 20200609 RGD DNA:deletion, missense mutation:CDS:577_672del, 1677T>C (p.L529S) (human) PMID:7655856|REF_RGD_ID:1601519 11882594 HK1 hexokinase 1 gene DOID:3612 retinitis ISO RGD:737450 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Retinitis PMID:25741868|PMID:28492532 11882594 HK1 hexokinase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:737450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11882594 HK1 hexokinase 1 gene DOID:4448 macular degeneration ISO RGD:737450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:25741868|PMID:28492532 11882594 HK1 hexokinase 1 gene DOID:630 genetic disease ISO RGD:737450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30778173 11882594 HK1 hexokinase 1 gene DOID:6432 pulmonary hypertension ISO RGD:2796 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:25767292|REF_RGD_ID:11353880 11882594 HK1 hexokinase 1 gene DOID:8501 fundus dystrophy ISO RGD:737450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25190649|PMID:25316723|PMID:25741868|PMID:26427411|PMID:28492532|PMID:28765615 11882594 HK1 hexokinase 1 gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:2796 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cardiac ventricle PMID:24525799|REF_RGD_ID:11353961 11882594 HK1 hexokinase 1 gene DOID:9000780 Hexokinase Deficiency Hemolytic Anemia ISO RGD:737450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hexokinase deficiency hemolytic anemia PMID:11783948|PMID:12211198|PMID:12393545|PMID:19536174|PMID:19608687|PMID:22978647|PMID:25741868|PMID:27282571|PMID:28492532|PMID:30778173|PMID:31119733|PMID:34532855|PMID:6848140|PMID:7655856 11882594 HK1 hexokinase 1 gene DOID:9003818 NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES ISO RGD:737450 D RGD:7240710 20191016 OMIM 11882594 HK1 hexokinase 1 gene DOID:9003818 NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES ISO RGD:737450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with visual defects and brain anomalies PMID:25741868|PMID:28492532|PMID:30778173 11882594 HK1 hexokinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532|PMID:30778173 11882594 HK1 hexokinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 11882594 HK1 hexokinase 1 gene DOID:9006205 Animal Disease Models ISO RGD:737450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11882594 HK1 hexokinase 1 gene DOID:9006276 Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency ISO RGD:737450 D RGD:7240710 20180130 OMIM 11882594 HK1 hexokinase 1 gene DOID:9006276 Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency ISO RGD:737450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY PMID:11783948|PMID:12211198|PMID:12393545|PMID:19536174|PMID:19608687|PMID:22978647|PMID:25741868|PMID:27282571|PMID:28492532|PMID:30778173|PMID:31119733|PMID:34532855|PMID:6848140|PMID:7655856 11882594 HK1 hexokinase 1 gene DOID:9006996 Retinitis Pigmentosa 79 ISO RGD:737450 D RGD:7240710 20190315 OMIM 11882594 HK1 hexokinase 1 gene DOID:9006996 Retinitis Pigmentosa 79 ISO RGD:737450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 79 PMID:25190649|PMID:25316723|PMID:25741868|PMID:26427411|PMID:28492532|PMID:28765615|PMID:30778173 11882594 HK1 hexokinase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:737450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11882594 HK1 hexokinase 1 gene DOID:9256 colorectal cancer ISO RGD:2796 D RGD:9068941 20200609 RGD PMID:19877886|REF_RGD_ID:11353883 11882594 HK1 hexokinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 11882594 HK1 hexokinase 1 gene DOID:9538 multiple myeloma ISO RGD:737450 D RGD:9068941 20200609 RGD PMID:19996089|REF_RGD_ID:11353882 11882594 HK1 hexokinase 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:737450 D RGD:9068941 20200609 RGD protein:decreased activity:platelet PMID:21921332|REF_RGD_ID:11353881 11882594 HK1 hexokinase 1 gene DOID:9970 obesity ISO RGD:737450 D RGD:9068941 20200609 RGD PMID:131232|REF_RGD_ID:1601527 11882594 HK1 hexokinase 1 gene DOID:9970 obesity susceptibility ISO RGD:2796 D RGD:9068941 20200609 RGD PMID:12524468|REF_RGD_ID:1601528 11882620 ATXN3 ataxin 3 gene DOID:0080054 achondrogenesis type IA ISO RGD:1606333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11882620 ATXN3 ataxin 3 gene DOID:1440 Machado-Joseph disease ISO RGD:1606333 D RGD:7240710 20180130 OMIM 11882620 ATXN3 ataxin 3 gene DOID:1440 Machado-Joseph disease ISO RGD:1606333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azorean disease 11882620 ATXN3 ataxin 3 gene DOID:1440 Machado-Joseph disease susceptibility ISO RGD:1606333 D RGD:9068941 20200609 RGD PMID:7874163|REF_RGD_ID:1599419 11882620 ATXN3 ataxin 3 gene DOID:1440 Machado-Joseph disease treatment ISO RGD:1606333 D RGD:9068941 20200609 RGD PMID:20308049|REF_RGD_ID:11557997 11882620 ATXN3 ataxin 3 gene DOID:630 genetic disease ISO RGD:1606333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882620 ATXN3 ataxin 3 gene DOID:9002695 Cataplexy ISO RGD:1606333 D RGD:9068941 20200609 RGD PMID:15128861|REF_RGD_ID:1358427 11882620 ATXN3 ataxin 3 gene DOID:9002955 Nerve Degeneration ISO RGD:1606333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9635424 11882639 MB21D2 Mab-21 domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1601820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11882639 MB21D2 Mab-21 domain containing 2 gene DOID:630 genetic disease ISO RGD:1601820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882687 PTPN20 protein tyrosine phosphatase non-receptor type 20 gene DOID:5419 schizophrenia ISO RGD:1353047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11882687 PTPN20 protein tyrosine phosphatase non-receptor type 20 gene DOID:630 genetic disease ISO RGD:1353047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882689 TMEM260 transmembrane protein 260 gene DOID:0060060 non-Hodgkin lymphoma disease_progression ISO RGD:1354503 D RGD:9068941 20230128 RGD DNA:SNP: 3'UTR:rs4901706 (human) PMID:24831772|REF_RGD_ID:155882447 11882689 TMEM260 transmembrane protein 260 gene DOID:0081312 T-cell non-Hodgkin lymphoma disease_progression ISO RGD:1354503 D RGD:9068941 20230128 RGD DNA:SNP: 3'UTR:rs4901706 (human) PMID:24831772|REF_RGD_ID:155882447 11882689 TMEM260 transmembrane protein 260 gene DOID:10534 stomach cancer susceptibility ISO RGD:1354503 D RGD:9068941 20230128 RGD DNA:SNP: 3'UTR:rs4901706 (human) PMID:27602096|REF_RGD_ID:155882453 11882689 TMEM260 transmembrane protein 260 gene DOID:630 genetic disease ISO RGD:1354503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882689 TMEM260 transmembrane protein 260 gene DOID:9005528 Structural Heart Defects and Renal Anomalies Syndrome ISO RGD:1354503 D RGD:7240710 20190315 OMIM 11882689 TMEM260 transmembrane protein 260 gene DOID:9005528 Structural Heart Defects and Renal Anomalies Syndrome ISO RGD:1354503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Structural heart defects and renal anomalies syndrome | ClinVar Annotator: match by term: Type I truncus arteriosus PMID:25741868|PMID:28318500|PMID:28492532|PMID:32860008|PMID:34612517 11882709 MRPL9 mitochondrial ribosomal protein L9 gene DOID:0111940 immunodeficiency 42 ISO RGD:1350314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11882709 MRPL9 mitochondrial ribosomal protein L9 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1350314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11882709 MRPL9 mitochondrial ribosomal protein L9 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1350314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11882709 MRPL9 mitochondrial ribosomal protein L9 gene DOID:1540 parathyroid carcinoma ISO RGD:1350314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11882709 MRPL9 mitochondrial ribosomal protein L9 gene DOID:5812 MHC class II deficiency ISO RGD:1350314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11882709 MRPL9 mitochondrial ribosomal protein L9 gene DOID:630 genetic disease ISO RGD:1350314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882709 MRPL9 mitochondrial ribosomal protein L9 gene DOID:9008939 Breast Neoplasms ISO RGD:1350314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 11882709 MRPL9 mitochondrial ribosomal protein L9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11882723 PIK3R3 phosphoinositide-3-kinase regulatory subunit 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1353925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11882723 PIK3R3 phosphoinositide-3-kinase regulatory subunit 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1353925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11882723 PIK3R3 phosphoinositide-3-kinase regulatory subunit 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1353925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11882723 PIK3R3 phosphoinositide-3-kinase regulatory subunit 3 gene DOID:234 colon adenocarcinoma treatment ISO RGD:1353925 D RGD:9068941 20200609 RGD PMID:24632606|REF_RGD_ID:13432053 11882723 PIK3R3 phosphoinositide-3-kinase regulatory subunit 3 gene DOID:3070 high grade glioma treatment ISO RGD:1353925 D RGD:9068941 20200609 RGD PMID:28260020|REF_RGD_ID:13782053 11882723 PIK3R3 phosphoinositide-3-kinase regulatory subunit 3 gene DOID:630 genetic disease ISO RGD:1353925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882723 PIK3R3 phosphoinositide-3-kinase regulatory subunit 3 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:621042 D RGD:9068941 20220520 RGD PMID:25999787|REF_RGD_ID:152177911 11882723 PIK3R3 phosphoinositide-3-kinase regulatory subunit 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1353925 D RGD:9068941 20200609 RGD associated with Adenocarcinoma, Colon PMID:24837077|REF_RGD_ID:13432045 11882723 PIK3R3 phosphoinositide-3-kinase regulatory subunit 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1353925 D RGD:9068941 20200609 RGD PMID:21978709|REF_RGD_ID:13432046 11882723 PIK3R3 phosphoinositide-3-kinase regulatory subunit 3 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1353925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 11882747 LILRB1 leukocyte immunoglobulin like receptor B1 gene DOID:630 genetic disease ISO RGD:1349645 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882777 NOSTRIN nitric oxide synthase trafficking gene DOID:630 genetic disease ISO RGD:1348478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882777 NOSTRIN nitric oxide synthase trafficking gene DOID:9007096 Stroke ISO RGD:727920 D RGD:9068941 20200609 RGD PMID:11489260|REF_RGD_ID:631971 11882805 NXPH3 neurexophilin 3 gene DOID:630 genetic disease ISO RGD:735663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882811 ZNF711 zinc finger protein 711 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1347410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability 11882811 ZNF711 zinc finger protein 711 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11882811 ZNF711 zinc finger protein 711 gene DOID:0080859 primary ovarian insufficiency 2B ISO RGD:1347410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 2B 11882811 ZNF711 zinc finger protein 711 gene DOID:0112046 non-syndromic X-linked intellectual disability 97 ISO RGD:1347410 D RGD:7240710 20180130 OMIM 11882811 ZNF711 zinc finger protein 711 gene DOID:0112046 non-syndromic X-linked intellectual disability 97 ISO RGD:1347410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 97 PMID:10398247|PMID:19377476|PMID:25741868|PMID:27993705|PMID:28492532 11882811 ZNF711 zinc finger protein 711 gene DOID:1059 intellectual disability ISO RGD:1347410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:10398247|PMID:25741868|PMID:27993705 11882811 ZNF711 zinc finger protein 711 gene DOID:12849 autistic disorder ISO RGD:1347410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11882811 ZNF711 zinc finger protein 711 gene DOID:630 genetic disease ISO RGD:1347410 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11882811 ZNF711 zinc finger protein 711 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1347410 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19377476 11882839 TCP11 t-complex 11 gene DOID:0050553 JMP syndrome ISO RGD:1351114 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11882839 TCP11 t-complex 11 gene DOID:630 genetic disease ISO RGD:1351114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882863 JPH2 junctophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1313081 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:22584458|PMID:23834499|PMID:24033266|PMID:25500949|PMID:25741868|PMID:28492532 11882863 JPH2 junctophilin 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1313081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:25500949|PMID:25741868|PMID:28492532|PMID:30235249|PMID:30615648|PMID:33673806 11882863 JPH2 junctophilin 2 gene DOID:0081161 dilated cardiomyopathy 2E ISO RGD:1313081 D RGD:7240710 20210908 OMIM 11882863 JPH2 junctophilin 2 gene DOID:0081161 dilated cardiomyopathy 2E ISO RGD:1313081 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2E PMID:23861362|PMID:24033266|PMID:25741868|PMID:26718681|PMID:28254189|PMID:28492532|PMID:28771489|PMID:30384889|PMID:30615648|PMID:30847666|PMID:33500567 11882863 JPH2 junctophilin 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1313081 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:17509612|PMID:22389502|PMID:24033266|PMID:25500949|PMID:25741868|PMID:28492532|PMID:30615648 11882863 JPH2 junctophilin 2 gene DOID:0110323 hypertrophic cardiomyopathy 17 ISO RGD:1313081 D RGD:7240710 20180130 OMIM 11882863 JPH2 junctophilin 2 gene DOID:0110323 hypertrophic cardiomyopathy 17 ISO RGD:1313081 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 17 PMID:17476457|PMID:17509612|PMID:22389502|PMID:22584458|PMID:23757202|PMID:23861362|PMID:23973696|PMID:24033266|PMID:25333069|PMID:25741868|PMID:26718681|PMID:27532831|PMID:28087566|PMID:28254189|PMID:28492532|PMID:28771489|PMID:30384889|PMID:30615648|PMID:30847666|PMID:33500567|PMID:35026164 11882863 JPH2 junctophilin 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1313081 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17476457|PMID:17509612|PMID:17576681|PMID:22584458|PMID:23757202|PMID:23834499|PMID:23861362|PMID:23973696|PMID:24033266|PMID:25333069|PMID:25500949|PMID:25741868|PMID:26718681|PMID:27532831|PMID:28008999|PMID:28087566|PMID:28254189|PMID:28393127|PMID:28492532|PMID:28771489|PMID:30235249|PMID:30615648|PMID:30847666|PMID:31227780|PMID:32368696|PMID:32880476|PMID:33500567|PMID:33673806|PMID:34062390|PMID:35026164|PMID:9536098 11882863 JPH2 junctophilin 2 gene DOID:11984 hypertrophic cardiomyopathy disease_progression ISO RGD:1305196 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:20576937|REF_RGD_ID:6480270 11882863 JPH2 junctophilin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1313081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532|PMID:30384889 11882863 JPH2 junctophilin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1313081 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532|PMID:30384889|PMID:30615648 11882863 JPH2 junctophilin 2 gene DOID:2234 focal epilepsy ISO RGD:1313081 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11882863 JPH2 junctophilin 2 gene DOID:2843 long QT syndrome ISO RGD:1313081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 11882863 JPH2 junctophilin 2 gene DOID:630 genetic disease ISO RGD:1313081 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28254189|PMID:28492532|PMID:28771489|PMID:30847666 11882863 JPH2 junctophilin 2 gene DOID:9000006 Supraventricular Tachycardia ISO RGD:1313081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Supraventricular tachycardia PMID:22584458|PMID:23834499|PMID:24033266|PMID:25741868|PMID:28492532 11882863 JPH2 junctophilin 2 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1313081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11882863 JPH2 junctophilin 2 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1313081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy 11882863 JPH2 junctophilin 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1313081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy 11882879 CLIC4 chloride intracellular channel 4 gene DOID:630 genetic disease ISO RGD:737114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882879 CLIC4 chloride intracellular channel 4 gene DOID:8398 osteoarthritis ISO RGD:737114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11882879 CLIC4 chloride intracellular channel 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 11882879 CLIC4 chloride intracellular channel 4 gene DOID:9004657 Weight Gain ISO RGD:737114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11882879 CLIC4 chloride intracellular channel 4 gene DOID:9007661 Dwarfism ISO RGD:737114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11882888 GHRH growth hormone releasing hormone gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:737566 D RGD:9068941 20200609 RGD PMID:22506635|REF_RGD_ID:10401267 11882888 GHRH growth hormone releasing hormone gene DOID:0050848 obstructive sleep apnea ISO RGD:737566 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:16750036|REF_RGD_ID:5687742 11882888 GHRH growth hormone releasing hormone gene DOID:0050848 obstructive sleep apnea treatment ISO RGD:62175 D RGD:9068941 20200609 RGD PMID:23815362|REF_RGD_ID:10401240 11882888 GHRH growth hormone releasing hormone gene DOID:0060873 isolated growth hormone deficiency type IA ISO RGD:62175 D RGD:9068941 20220825 MouseDO OMIM:262400 11882888 GHRH growth hormone releasing hormone gene DOID:10286 prostate carcinoma ISO RGD:737566 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate PMID:12364462|REF_RGD_ID:2289976 11882888 GHRH growth hormone releasing hormone gene DOID:10652 Alzheimer's disease treatment ISO RGD:62175 D RGD:9068941 20200609 RGD PMID:23211425|REF_RGD_ID:10401233 11882888 GHRH growth hormone releasing hormone gene DOID:11132 prostatic hypertrophy treatment ISO RGD:61883 D RGD:9068941 20200609 RGD PMID:21321192|PMID:22341819|REF_RGD_ID:10401238|REF_RGD_ID:10401264 11882888 GHRH growth hormone releasing hormone gene DOID:11396 pulmonary edema ISO RGD:737566 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22308467 11882888 GHRH growth hormone releasing hormone gene DOID:1380 endometrial cancer ISO RGD:737566 D RGD:9068941 20200609 RGD PMID:15784701|REF_RGD_ID:2301423 11882888 GHRH growth hormone releasing hormone gene DOID:1380 endometrial cancer ISO RGD:737566 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:expression in 17/22 specimens PMID:10022420|REF_RGD_ID:2289974 11882888 GHRH growth hormone releasing hormone gene DOID:1612 breast cancer ISO RGD:737566 D RGD:9068941 20200609 RGD protein:increased expression:tumor:colloid, lobular, and infiltrating ductal carcinomas PMID:1973621|REF_RGD_ID:2289972 11882888 GHRH growth hormone releasing hormone gene DOID:2234 focal epilepsy ISO RGD:737566 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11882888 GHRH growth hormone releasing hormone gene DOID:2394 ovarian cancer ISO RGD:737566 D RGD:9068941 20200609 RGD PMID:11710593|REF_RGD_ID:2301424 11882888 GHRH growth hormone releasing hormone gene DOID:2394 ovarian cancer ISO RGD:737566 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:11163834|REF_RGD_ID:2301425 11882888 GHRH growth hormone releasing hormone gene DOID:2394 ovarian cancer ISO RGD:737566 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:expression in 17/22 specimens PMID:10022420|REF_RGD_ID:2289974 11882888 GHRH growth hormone releasing hormone gene DOID:289 endometriosis ISO RGD:737566 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary PMID:11163834|REF_RGD_ID:2301425 11882888 GHRH growth hormone releasing hormone gene DOID:4450 renal cell carcinoma ISO RGD:737566 D RGD:9068941 20200609 RGD PMID:10962030|REF_RGD_ID:2301426 11882888 GHRH growth hormone releasing hormone gene DOID:535 sleep disorder ISO RGD:61883 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, multiple (rat) PMID:16859658|REF_RGD_ID:5687196 11882888 GHRH growth hormone releasing hormone gene DOID:5844 myocardial infarction treatment ISO RGD:61883 D RGD:9068941 20200609 RGD PMID:24373935|REF_RGD_ID:10401242 11882888 GHRH growth hormone releasing hormone gene DOID:630 genetic disease ISO RGD:737566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882888 GHRH growth hormone releasing hormone gene DOID:9002234 Pituitary Neoplasms ISO RGD:737566 D RGD:9068941 20200609 RGD Adenoma; human gene in mouse model PMID:1425411|REF_RGD_ID:5687177 11882888 GHRH growth hormone releasing hormone gene DOID:9002763 Experimental Autoimmune Encephalomyelitis resistance ISO RGD:62175 D RGD:9068941 20200609 RGD PMID:21846799|REF_RGD_ID:5687168 11882888 GHRH growth hormone releasing hormone gene DOID:9002775 Cognitive Dysfunction treatment ISO RGD:737566 D RGD:9068941 20200609 RGD PMID:23689947|REF_RGD_ID:10401232 11882888 GHRH growth hormone releasing hormone gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:61883 D RGD:9068941 20200609 RGD PMID:22393012|REF_RGD_ID:10401241 11882888 GHRH growth hormone releasing hormone gene DOID:9007827 Upper Airway Obstruction ISO RGD:61883 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:hypothalamus (rat) PMID:21406516|REF_RGD_ID:5687169 11882888 GHRH growth hormone releasing hormone gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:737566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 11882898 MAD1L1 mitotic arrest deficient 1 like 1 gene DOID:0060058 lymphoma ISO RGD:1312218 D RGD:9068941 20230413 RGD PMID:11423979|REF_RGD_ID:1599865 11882898 MAD1L1 mitotic arrest deficient 1 like 1 gene DOID:10283 prostate cancer ISO RGD:1312218 D RGD:7240710 20180418 OMIM 11882898 MAD1L1 mitotic arrest deficient 1 like 1 gene DOID:630 genetic disease ISO RGD:1312218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882898 MAD1L1 mitotic arrest deficient 1 like 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1312218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11882898 MAD1L1 mitotic arrest deficient 1 like 1 gene DOID:9000466 Prostate Cancer, Somatic ISO RGD:1312218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate cancer, somatic PMID:11423979 11882898 MAD1L1 mitotic arrest deficient 1 like 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11882898 MAD1L1 mitotic arrest deficient 1 like 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312218 D RGD:9068941 20200609 RGD PMID:11423979|REF_RGD_ID:1599865 11882898 MAD1L1 mitotic arrest deficient 1 like 1 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1312218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23666239 11882898 MAD1L1 mitotic arrest deficient 1 like 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1312218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11882898 MAD1L1 mitotic arrest deficient 1 like 1 gene DOID:9006369 Mosaic Variegated Aneuploidy Syndrome 7 ISO RGD:1312218 D RGD:7240710 20230125 OMIM 11882898 MAD1L1 mitotic arrest deficient 1 like 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1312218 D RGD:9068941 20200609 RGD PMID:11423979|REF_RGD_ID:1599865 11882942 HAX1 HCLS1 associated protein X-1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11882942 HAX1 HCLS1 associated protein X-1 gene DOID:0050590 severe congenital neutropenia ISO RGD:1607073 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe congenital neutropenia PMID:16199547|PMID:17187068|PMID:19036076|PMID:19499579|PMID:22624626|PMID:25741868|PMID:28492532|PMID:31589614|PMID:32054657|PMID:34426522 11882942 HAX1 HCLS1 associated protein X-1 gene DOID:0070146 hereditary sensory neuropathy type 4 ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV PMID:25741868|PMID:28492532 11882942 HAX1 HCLS1 associated protein X-1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11882942 HAX1 HCLS1 associated protein X-1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11882942 HAX1 HCLS1 associated protein X-1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1607073 D RGD:7240710 20180130 OMIM 11882942 HAX1 HCLS1 associated protein X-1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1607073 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:10581030|PMID:11519978|PMID:16199547|PMID:17187068|PMID:17576681|PMID:18055975|PMID:18330843|PMID:18337561|PMID:18611981|PMID:19036076|PMID:19118303|PMID:19499579|PMID:20065084|PMID:20177699|PMID:20182745|PMID:20220065|PMID:21108402|PMID:21344642|PMID:22102707|PMID:22624626|PMID:24482108|PMID:25326635|PMID:25741868|PMID:28102861|PMID:28454995|PMID:28492532|PMID:31589614|PMID:31980526|PMID:32005694|PMID:32054657|PMID:32581362|PMID:33381479|PMID:34134972|PMID:34426522|PMID:34826056|PMID:9536098 11882942 HAX1 HCLS1 associated protein X-1 gene DOID:1227 neutropenia ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:28492532|PMID:32581362 11882942 HAX1 HCLS1 associated protein X-1 gene DOID:1540 parathyroid carcinoma ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11882942 HAX1 HCLS1 associated protein X-1 gene DOID:5812 MHC class II deficiency ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11882942 HAX1 HCLS1 associated protein X-1 gene DOID:630 genetic disease ISO RGD:1607073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17187068|PMID:18337561|PMID:19036076|PMID:20065084|PMID:20177699|PMID:20220065|PMID:22102707|PMID:24482108|PMID:25741868|PMID:28492532|PMID:32005694|PMID:33381479|PMID:34134972|PMID:34826056 11882942 HAX1 HCLS1 associated protein X-1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11882957 TRARG1 trafficking regulator of GLUT4 (SLC2A4) 1 gene DOID:0060432 chromosome 17p13.3 duplication syndrome ISO RGD:1316946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome PMID:21681106 11882957 TRARG1 trafficking regulator of GLUT4 (SLC2A4) 1 gene DOID:630 genetic disease ISO RGD:1316946 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11882957 TRARG1 trafficking regulator of GLUT4 (SLC2A4) 1 gene DOID:9002310 Split-Hand/Foot Malformation with Long Bone Deficiency 3 ISO RGD:1316946 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Chromosome 17P13.3, telomeric, duplication syndrome PMID:25741868 11882957 TRARG1 trafficking regulator of GLUT4 (SLC2A4) 1 gene DOID:9002821 Bifid Femur with Monodactylous Ectrodactyly ISO RGD:1316946 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Gollop-Wolfgang complex PMID:25741868 11882965 CEP95 centrosomal protein 95 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1601939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 11882965 CEP95 centrosomal protein 95 gene DOID:630 genetic disease ISO RGD:1601939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883003 FAM216A family with sequence similarity 216 member A gene DOID:630 genetic disease ISO RGD:1607038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883023 RBL2 RB transcriptional corepressor like 2 gene DOID:630 genetic disease ISO RGD:733260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883023 RBL2 RB transcriptional corepressor like 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11883023 RBL2 RB transcriptional corepressor like 2 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:733260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16038780 11883023 RBL2 RB transcriptional corepressor like 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733260 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16936753 11883023 RBL2 RB transcriptional corepressor like 2 gene DOID:9003939 BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME ISO RGD:733260 D RGD:7240710 20220316 OMIM 11883023 RBL2 RB transcriptional corepressor like 2 gene DOID:9003939 BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME ISO RGD:733260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brunet-Wagner neurodevelopmental syndrome PMID:25741868|PMID:32105419 11883050 EIF5 eukaryotic translation initiation factor 5 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:736122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11883050 EIF5 eukaryotic translation initiation factor 5 gene DOID:5419 schizophrenia ISO RGD:736122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 11883050 EIF5 eukaryotic translation initiation factor 5 gene DOID:630 genetic disease ISO RGD:736122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883050 EIF5 eukaryotic translation initiation factor 5 gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:736122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 11883070 IZUMO4 IZUMO family member 4 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1349340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 11883070 IZUMO4 IZUMO family member 4 gene DOID:5339 cyclic hematopoiesis ISO RGD:1349340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11883070 IZUMO4 IZUMO family member 4 gene DOID:630 genetic disease ISO RGD:1349340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883070 IZUMO4 IZUMO family member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11883093 TSKS testis specific serine kinase substrate gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1602690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11883093 TSKS testis specific serine kinase substrate gene DOID:2661 myoepithelioma ISO RGD:1602690 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11883093 TSKS testis specific serine kinase substrate gene DOID:630 genetic disease ISO RGD:1602690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883125 ARHGAP6 Rho GTPase activating protein 6 gene DOID:0110058 amelogenesis imperfecta type 1E ISO RGD:1349829 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth PMID:10669095|PMID:11201048|PMID:11839357|PMID:11922868|PMID:1483698|PMID:15111628|PMID:1916828|PMID:1967204|PMID:23251683|PMID:25741868|PMID:3169793|PMID:4623931|PMID:5225441|PMID:7599636|PMID:8406474|PMID:9188994 11883125 ARHGAP6 Rho GTPase activating protein 6 gene DOID:0112018 non-syndromic X-linked intellectual disability 104 ISO RGD:1349829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 11883125 ARHGAP6 Rho GTPase activating protein 6 gene DOID:1059 intellectual disability ISO RGD:1349829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11883125 ARHGAP6 Rho GTPase activating protein 6 gene DOID:10629 microphthalmia ISO RGD:1623320 D RGD:9068941 20220825 MouseDO OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972 11883125 ARHGAP6 Rho GTPase activating protein 6 gene DOID:12849 autistic disorder ISO RGD:1349829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11883125 ARHGAP6 Rho GTPase activating protein 6 gene DOID:13938 amenorrhea ISO RGD:1349829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11883125 ARHGAP6 Rho GTPase activating protein 6 gene DOID:2187 amelogenesis imperfecta ISO RGD:1349829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta 11883125 ARHGAP6 Rho GTPase activating protein 6 gene DOID:630 genetic disease ISO RGD:1349829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11883125 ARHGAP6 Rho GTPase activating protein 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11883125 ARHGAP6 Rho GTPase activating protein 6 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1349829 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11883143 TMEM106C transmembrane protein 106C gene DOID:630 genetic disease ISO RGD:1601972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883158 ILF2 interleukin enhancer binding factor 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1313940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11883158 ILF2 interleukin enhancer binding factor 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1313940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11883158 ILF2 interleukin enhancer binding factor 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1313940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11883158 ILF2 interleukin enhancer binding factor 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1313940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11883158 ILF2 interleukin enhancer binding factor 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313940 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11883158 ILF2 interleukin enhancer binding factor 2 gene DOID:5812 MHC class II deficiency ISO RGD:1313940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11883158 ILF2 interleukin enhancer binding factor 2 gene DOID:630 genetic disease ISO RGD:1313940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883158 ILF2 interleukin enhancer binding factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313940 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 11883158 ILF2 interleukin enhancer binding factor 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11883177 TGFB2 transforming growth factor beta 2 gene DOID:0050439 Usher syndrome ISO RGD:730953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 11883177 TGFB2 transforming growth factor beta 2 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:730953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:10611753|PMID:16199547|PMID:1644824|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:23102774|PMID:24465802|PMID:24577266|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:28139901|PMID:28492532|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31915033|PMID:32307099|PMID:3476488|PMID:7737999|PMID:9599222 11883177 TGFB2 transforming growth factor beta 2 gene DOID:0060468 Holt-Oram syndrome ISO RGD:730953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holt-Oram syndrome PMID:24465802|PMID:25741868|PMID:26017485|PMID:28492532|PMID:28633253|PMID:28655553 11883177 TGFB2 transforming growth factor beta 2 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:730953 D RGD:7240710 20180130 OMIM 11883177 TGFB2 transforming growth factor beta 2 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:730953 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:10611753|PMID:16199547|PMID:1644824|PMID:17576681|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:23102774|PMID:24033266|PMID:24193348|PMID:24465802|PMID:24577266|PMID:25046559|PMID:25049390|PMID:25640679|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:27782106|PMID:28139901|PMID:28492532|PMID:28544325|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31915033|PMID:32277047|PMID:32307099|PMID:34008892|PMID:3476488|PMID:7737999|PMID:9536098|PMID:9599222 11883177 TGFB2 transforming growth factor beta 2 gene DOID:0080006 bone development disease ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 11883177 TGFB2 transforming growth factor beta 2 gene DOID:0110106 atrial heart septal defect 1 ISO RGD:730953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect 1 11883177 TGFB2 transforming growth factor beta 2 gene DOID:10487 Hirschsprung's disease ISO RGD:730953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868|PMID:26017485|PMID:28492532 11883177 TGFB2 transforming growth factor beta 2 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:730953 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:22772371|PMID:24465802|PMID:25741868|PMID:26017485|PMID:28139901|PMID:28492532|PMID:28633253|PMID:28655553|PMID:29543232 11883177 TGFB2 transforming growth factor beta 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:730953 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:22772368|PMID:22772371|PMID:23102774|PMID:24465802|PMID:25644172|PMID:25741868|PMID:26017485|PMID:28492532|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914 11883177 TGFB2 transforming growth factor beta 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:730953 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10611753|PMID:16199547|PMID:1644824|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:22863191|PMID:23102774|PMID:24465802|PMID:24577266|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:28139901|PMID:28492532|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31915033|PMID:32307099|PMID:3476488|PMID:7737999|PMID:9599222 11883177 TGFB2 transforming growth factor beta 2 gene DOID:1520 colon carcinoma ISO RGD:1313707 D RGD:9068941 20200609 RGD PMID:10416598|REF_RGD_ID:13432084 11883177 TGFB2 transforming growth factor beta 2 gene DOID:1520 colon carcinoma disease_progression ISO RGD:730953 D RGD:9068941 20200609 RGD PMID:11166150|REF_RGD_ID:13432074 11883177 TGFB2 transforming growth factor beta 2 gene DOID:1540 parathyroid carcinoma ISO RGD:730953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11883177 TGFB2 transforming growth factor beta 2 gene DOID:1682 congenital heart disease ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 11883177 TGFB2 transforming growth factor beta 2 gene DOID:1686 glaucoma ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20375339 11883177 TGFB2 transforming growth factor beta 2 gene DOID:1790 malignant mesothelioma ISO RGD:730953 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 11883177 TGFB2 transforming growth factor beta 2 gene DOID:2256 osteochondrodysplasia ISO RGD:70491 D RGD:9068941 20200609 RGD PMID:17366323|REF_RGD_ID:2302024 11883177 TGFB2 transforming growth factor beta 2 gene DOID:289 endometriosis ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11883177 TGFB2 transforming growth factor beta 2 gene DOID:3498 pancreatic ductal adenocarcinoma ameliorates ISO RGD:730953 D RGD:9068941 20221027 RGD protein:decreased expression:pancreas (human) PMID:8253361|REF_RGD_ID:155630628 11883177 TGFB2 transforming growth factor beta 2 gene DOID:3627 aortic aneurysm ISO RGD:730953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm PMID:22772371|PMID:25741868|PMID:28492532 11883177 TGFB2 transforming growth factor beta 2 gene DOID:3910 lung adenocarcinoma ISO RGD:730953 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 11883177 TGFB2 transforming growth factor beta 2 gene DOID:417 autoimmune disease ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 11883177 TGFB2 transforming growth factor beta 2 gene DOID:5082 liver cirrhosis ISO RGD:730953 D RGD:9068941 20200609 RGD PMID:30686515|REF_RGD_ID:14985228 11883177 TGFB2 transforming growth factor beta 2 gene DOID:5199 ureteral obstruction ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17164399 11883177 TGFB2 transforming growth factor beta 2 gene DOID:520 aortic disease ISO RGD:730953 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:22772368|PMID:23102774|PMID:25741868|PMID:26854089|PMID:28492532|PMID:28550590|PMID:29907982|PMID:31191903 11883177 TGFB2 transforming growth factor beta 2 gene DOID:5637 pancreatic adenosquamous carcinoma ameliorates ISO RGD:730953 D RGD:9068941 20221027 RGD human cells in a mouse model PMID:21366804|REF_RGD_ID:155630611 11883177 TGFB2 transforming growth factor beta 2 gene DOID:57 aortic valve insufficiency ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 11883177 TGFB2 transforming growth factor beta 2 gene DOID:5844 myocardial infarction ISO RGD:70491 D RGD:9068941 20200609 RGD PMID:14575314|REF_RGD_ID:2302107 11883177 TGFB2 transforming growth factor beta 2 gene DOID:630 genetic disease ISO RGD:730953 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22772368|PMID:24577266|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29392890|PMID:29907982|PMID:30071990|PMID:3476488 11883177 TGFB2 transforming growth factor beta 2 gene DOID:65 connective tissue disease ISO RGD:730953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 11883177 TGFB2 transforming growth factor beta 2 gene DOID:674 cleft palate ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25450421 11883177 TGFB2 transforming growth factor beta 2 gene DOID:684 hepatocellular carcinoma ISO RGD:730953 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 11883177 TGFB2 transforming growth factor beta 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:70491 D RGD:9068941 20200609 RGD PMID:15145083|REF_RGD_ID:2302103 11883177 TGFB2 transforming growth factor beta 2 gene DOID:9000781 Cyanosis ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 11883177 TGFB2 transforming growth factor beta 2 gene DOID:9001600 Wounds and Injuries ISO RGD:70491 D RGD:9068941 20200609 RGD PMID:17117936|PMID:18205704|REF_RGD_ID:2292158|REF_RGD_ID:2302090 11883177 TGFB2 transforming growth factor beta 2 gene DOID:9001611 Urogenital Abnormalities ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 11883177 TGFB2 transforming growth factor beta 2 gene DOID:9002498 Wallerian Degeneration ISO RGD:70491 D RGD:9068941 20200609 RGD protein:decreased expression:sciatic nerve PMID:14997937|REF_RGD_ID:2302105 11883177 TGFB2 transforming growth factor beta 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:70491 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:central nervous system PMID:17204936|REF_RGD_ID:2302088 11883177 TGFB2 transforming growth factor beta 2 gene DOID:9004286 Hirschsprung Disease 1 ISO RGD:730953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirschsprung disease 1 PMID:25741868|PMID:26017485|PMID:28492532 11883177 TGFB2 transforming growth factor beta 2 gene DOID:9005004 Musculoskeletal Abnormalities ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 11883177 TGFB2 transforming growth factor beta 2 gene DOID:9005100 Aberrant Crypt Foci treatment ISO RGD:70491 D RGD:9068941 20200609 RGD PMID:17293967|REF_RGD_ID:13432080 11883177 TGFB2 transforming growth factor beta 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70491 D RGD:9068941 20200609 RGD protein:increased expression:parotid gland PMID:17574405|REF_RGD_ID:2302087 11883177 TGFB2 transforming growth factor beta 2 gene DOID:9006294 Congenital Limb Deformities ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 11883177 TGFB2 transforming growth factor beta 2 gene DOID:9006949 Martsolf Syndrome ISO RGD:730953 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 11883177 TGFB2 transforming growth factor beta 2 gene DOID:9007870 Respiratory System Abnormalities ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 11883177 TGFB2 transforming growth factor beta 2 gene DOID:9008296 Eye Abnormalities ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 11883177 TGFB2 transforming growth factor beta 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730953 D RGD:9068941 20200609 RGD associated with Inflammatory Bowel Diseases;DNA:hypermethylation PMID:22532293|REF_RGD_ID:13432077 11883177 TGFB2 transforming growth factor beta 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 11883177 TGFB2 transforming growth factor beta 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11883177 TGFB2 transforming growth factor beta 2 gene DOID:9256 colorectal cancer disease_progression ISO RGD:730953 D RGD:9068941 20200609 RGD PMID:15057430|REF_RGD_ID:13432086 11883177 TGFB2 transforming growth factor beta 2 gene DOID:9256 colorectal cancer treatment ISO RGD:730953 D RGD:9068941 20200609 RGD PMID:19661324|REF_RGD_ID:13432081 11883177 TGFB2 transforming growth factor beta 2 gene DOID:9446 cholangitis ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 11883177 TGFB2 transforming growth factor beta 2 gene DOID:9743 diabetic neuropathy ISO RGD:70491 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:dorsal root ganglion PMID:18406405|REF_RGD_ID:2302086 11883190 FRRS1L ferric chelate reductase 1 like gene DOID:0080435 developmental and epileptic encephalopathy 37 ISO RGD:1346527 D RGD:7240710 20190315 OMIM 11883190 FRRS1L ferric chelate reductase 1 like gene DOID:0080435 developmental and epileptic encephalopathy 37 ISO RGD:1346527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:21147040|PMID:22406018|PMID:25741868|PMID:27236917|PMID:27239025|PMID:28492532|PMID:30525197|PMID:30692144|PMID:32860008|PMID:32928027|PMID:9536098 11883190 FRRS1L ferric chelate reductase 1 like gene DOID:1826 epilepsy ISO RGD:1346527 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:21147040|PMID:25741868|PMID:27236917|PMID:27239025|PMID:28492532|PMID:32860008|PMID:32928027 11883190 FRRS1L ferric chelate reductase 1 like gene DOID:630 genetic disease ISO RGD:1346527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11883198 SAMM50 SAMM50 sorting and assembly machinery component gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1604035 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:26740948|REF_RGD_ID:13463463 11883198 SAMM50 SAMM50 sorting and assembly machinery component gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1604035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11883198 SAMM50 SAMM50 sorting and assembly machinery component gene DOID:1059 intellectual disability ISO RGD:1604035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11883198 SAMM50 SAMM50 sorting and assembly machinery component gene DOID:630 genetic disease ISO RGD:1604035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883217 PPP1R21 protein phosphatase 1 regulatory subunit 21 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:1605582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 11883217 PPP1R21 protein phosphatase 1 regulatory subunit 21 gene DOID:630 genetic disease ISO RGD:1605582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883217 PPP1R21 protein phosphatase 1 regulatory subunit 21 gene DOID:9002752 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES ISO RGD:1605582 D RGD:7240710 20210825 OMIM 11883217 PPP1R21 protein phosphatase 1 regulatory subunit 21 gene DOID:9002752 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES ISO RGD:1605582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities PMID:25741868|PMID:28940097|PMID:29808498|PMID:30520571|PMID:32985083 11883217 PPP1R21 protein phosphatase 1 regulatory subunit 21 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:30057029 11883247 DIS3L DIS3 like exosome 3'-5' exoribonuclease gene DOID:10283 prostate cancer ISO RGD:1606984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11883247 DIS3L DIS3 like exosome 3'-5' exoribonuclease gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1606984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11883247 DIS3L DIS3 like exosome 3'-5' exoribonuclease gene DOID:2717 Bloom syndrome ISO RGD:1606984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11883247 DIS3L DIS3 like exosome 3'-5' exoribonuclease gene DOID:630 genetic disease ISO RGD:1606984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883247 DIS3L DIS3 like exosome 3'-5' exoribonuclease gene DOID:9256 colorectal cancer ISO RGD:1606984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11883276 LOC100988175 zinc finger protein 569 gene DOID:630 genetic disease ISO RGD:1354291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883276 LOC100988175 zinc finger protein 569 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1354291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 11883287 DENND1C DENN domain containing 1C gene DOID:0080490 mucolipidosis type IV ISO RGD:1345609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11883287 DENND1C DENN domain containing 1C gene DOID:630 genetic disease ISO RGD:1345609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883317 METTL3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1348378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:11528500|PMID:23105016|PMID:28492532 11883317 METTL3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1348378 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 11883317 METTL3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit gene DOID:630 genetic disease ISO RGD:1348378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883317 METTL3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit gene DOID:9002884 Emphysema ISO RGD:1348378 D RGD:9068941 20210709 CTD CTD Direct Evidence: therapeutic PMID:33660100 11883317 METTL3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1348378 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11883317 METTL3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit gene DOID:9538 multiple myeloma ISO RGD:1348378 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038059 11883332 MZT1 mitotic spindle organizing protein 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:2300357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11883332 MZT1 mitotic spindle organizing protein 1 gene DOID:630 genetic disease ISO RGD:2300357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883344 SLC27A6 solute carrier family 27 member 6 gene DOID:0060224 atrial fibrillation ISO RGD:1323714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 11883344 SLC27A6 solute carrier family 27 member 6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1323714 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11883344 SLC27A6 solute carrier family 27 member 6 gene DOID:5844 myocardial infarction ISO RGD:1311977 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:17034771|REF_RGD_ID:1642800 11883344 SLC27A6 solute carrier family 27 member 6 gene DOID:630 genetic disease ISO RGD:1323714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883344 SLC27A6 solute carrier family 27 member 6 gene DOID:684 hepatocellular carcinoma ISO RGD:1323714 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 11883344 SLC27A6 solute carrier family 27 member 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11883344 SLC27A6 solute carrier family 27 member 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323714 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11883380 GRWD1 glutamate rich WD repeat containing 1 gene DOID:10283 prostate cancer ISO RGD:1344190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11883380 GRWD1 glutamate rich WD repeat containing 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1344190 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11883380 GRWD1 glutamate rich WD repeat containing 1 gene DOID:630 genetic disease ISO RGD:1344190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883380 GRWD1 glutamate rich WD repeat containing 1 gene DOID:9006205 Animal Disease Models ISO RGD:1344190 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11883391 PRIM1 DNA primase subunit 1 gene DOID:0050569 Seckel syndrome ISO RGD:1348091 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Microcephalic primordial dwarfism PMID:33060134 11883391 PRIM1 DNA primase subunit 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1348091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11883391 PRIM1 DNA primase subunit 1 gene DOID:630 genetic disease ISO RGD:1348091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883391 PRIM1 DNA primase subunit 1 gene DOID:9004216 PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME ISO RGD:1348091 D RGD:7240710 20221221 OMIM 11883391 PRIM1 DNA primase subunit 1 gene DOID:9004216 PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME ISO RGD:1348091 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Primordial dwarfism-immunodeficiency-lipodystrophy syndrome PMID:33060134 11883458 SIX6 SIX homeobox 6 gene DOID:0060252 sclerocornea ISO RGD:1321431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sclerocornea 11883458 SIX6 SIX homeobox 6 gene DOID:0080635 optic disc anomalies with retinal and/or macular dystrophy ISO RGD:1321431 D RGD:7240710 20200311 OMIM 11883458 SIX6 SIX homeobox 6 gene DOID:0080635 optic disc anomalies with retinal and/or macular dystrophy ISO RGD:1321431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY PMID:15266624|PMID:23167593|PMID:24702266|PMID:25741868|PMID:28492532 11883458 SIX6 SIX homeobox 6 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1321431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia PMID:25741868|PMID:28492532 11883458 SIX6 SIX homeobox 6 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1321431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:24875647|PMID:25741868|PMID:28492532 11883458 SIX6 SIX homeobox 6 gene DOID:10629 microphthalmia ISO RGD:1321431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia | ClinVar Annotator: match by term: Microphthalmos PMID:25741868|PMID:28492532 11883458 SIX6 SIX homeobox 6 gene DOID:11830 myopia ISO RGD:1321431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 11883458 SIX6 SIX homeobox 6 gene DOID:630 genetic disease ISO RGD:1321431 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11883458 SIX6 SIX homeobox 6 gene DOID:83 cataract ISO RGD:1321431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract 11883458 SIX6 SIX homeobox 6 gene DOID:9007101 Isolated Microphthalmia with Cataract 2 ISO RGD:1321431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus PMID:15266624|PMID:23167593|PMID:24702266|PMID:25741868|PMID:28492532 11883458 SIX6 SIX homeobox 6 gene DOID:9007844 Branchiootic Syndrome 3 ISO RGD:1321431 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Branchiootic syndrome 3 PMID:18666230|PMID:25414181|PMID:28492532 11883458 SIX6 SIX homeobox 6 gene DOID:9650 pathologic nystagmus ISO RGD:1321431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nystagmus 11883469 PLK3 polo like kinase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11883469 PLK3 polo like kinase 3 gene DOID:0080600 COVID-19 ISO RGD:1350781 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 11883469 PLK3 polo like kinase 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1350781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11883469 PLK3 polo like kinase 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11883469 PLK3 polo like kinase 3 gene DOID:2152 ovary epithelial cancer disease_progression ISO RGD:1350781 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:14970859|REF_RGD_ID:2299941 11883469 PLK3 polo like kinase 3 gene DOID:3459 breast carcinoma disease_progression ISO RGD:1350781 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:15785925|REF_RGD_ID:2299942 11883469 PLK3 polo like kinase 3 gene DOID:630 genetic disease ISO RGD:1350781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883489 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1348339 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11883489 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:0060290 blepharophimosis-intellectual disability syndrome, SBBYS type ISO RGD:1348339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome PMID:32694869 11883489 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1348339 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 11883489 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1348339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 1 PMID:22366787|PMID:22426308|PMID:22426309|PMID:25724810|PMID:25741868 11883489 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1348339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma 11883489 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:1348339 D RGD:9068941 20200609 RGD PMID:17075831|REF_RGD_ID:2302527 11883489 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:10348 blepharophimosis ISO RGD:1348339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis PMID:25741868 11883489 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:1059 intellectual disability ISO RGD:1348339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual deficiency PMID:22366787|PMID:25533962|PMID:25741868|PMID:27399259|PMID:27479843|PMID:28191890|PMID:28424519|PMID:28628100|PMID:32694869 11883489 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:10907 microcephaly ISO RGD:1348339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11883489 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:1790 malignant mesothelioma ISO RGD:1348339 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 11883489 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:1925 Coffin-Siris syndrome ISO RGD:1348339 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability PMID:18414213|PMID:28512736 11883489 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:630 genetic disease ISO RGD:1348339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16738128|PMID:17576681|PMID:18414213|PMID:25169058|PMID:25169753|PMID:25533962|PMID:25741868|PMID:27399259|PMID:27479843|PMID:28191890|PMID:28424519|PMID:28492532|PMID:28512736|PMID:32694869|PMID:9536098 11883489 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1348339 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 11883489 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9001900 Arnold-Chiari Malformation ISO RGD:1348339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arnold-Chiari malformation 11883489 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9003531 Nicolaides Baraitser Syndrome ISO RGD:1348339 D RGD:7240710 20180130 OMIM 11883489 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9003531 Nicolaides Baraitser Syndrome ISO RGD:1348339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome | ClinVar Annotator: match by term: SMARCA2-related BAFopathy PMID:17576681|PMID:18414213|PMID:19606471|PMID:22366787|PMID:22426308|PMID:22822383|PMID:23752187|PMID:23929686|PMID:25169058|PMID:25169753|PMID:25326635|PMID:25326637|PMID:25741868|PMID:27099726|PMID:27399259|PMID:27479843|PMID:27665729|PMID:28333917|PMID:28424519|PMID:28492532|PMID:28824374|PMID:30459321|PMID:31785789|PMID:32694869|PMID:9536098 11883489 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9003879 Vein of Galen Aneurysm ISO RGD:1348339 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galen vein aneurysm PMID:30578106 11883489 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1348339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 11883489 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348339 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11883489 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9004507 Hirsutism ISO RGD:1348339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirsutism PMID:22366787|PMID:25741868 11883489 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9008582 Developmental Disease ISO RGD:1348339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11883489 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9008618 BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ISO RGD:1348339 D RGD:7240710 20230215 OMIM 11883489 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9008618 BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ISO RGD:1348339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Blepharophimosis-impaired intellectual development syndrome PMID:25533962|PMID:25741868|PMID:28191890|PMID:28492532|PMID:28628100|PMID:32694869 11883537 ADISSP adipose secreted signaling protein gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1323352 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11883537 ADISSP adipose secreted signaling protein gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1323352 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11883537 ADISSP adipose secreted signaling protein gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1323352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 11883547 LOC100983728 dpy-19 like C-mannosyltransferase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11883547 LOC100983728 dpy-19 like C-mannosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1603693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883572 TSC22D1 TSC22 domain family member 1 gene DOID:305 carcinoma ISO RGD:1604401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11883572 TSC22D1 TSC22 domain family member 1 gene DOID:630 genetic disease ISO RGD:1604401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883572 TSC22D1 TSC22 domain family member 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1604401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11883572 TSC22D1 TSC22 domain family member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11883572 TSC22D1 TSC22 domain family member 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1604401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15833021|PMID:17533171 11883572 TSC22D1 TSC22 domain family member 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1604401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11883572 TSC22D1 TSC22 domain family member 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1604401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15089088 11883599 PGRMC2 progesterone receptor membrane component 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1318787 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 11883599 PGRMC2 progesterone receptor membrane component 2 gene DOID:630 genetic disease ISO RGD:1318787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883606 C19H19orf44 chromosome 19 C19orf44 homolog gene DOID:630 genetic disease ISO RGD:1602089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883619 RMI2 RecQ mediated genome instability 2 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1606180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 11883619 RMI2 RecQ mediated genome instability 2 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1606180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 11883619 RMI2 RecQ mediated genome instability 2 gene DOID:5812 MHC class II deficiency ISO RGD:1606180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11883619 RMI2 RecQ mediated genome instability 2 gene DOID:630 genetic disease ISO RGD:1606180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883625 IL22 interleukin 22 gene DOID:2048 autoimmune hepatitis ISO RGD:1344987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 11883625 IL22 interleukin 22 gene DOID:2841 asthma ISO RGD:1344987 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21297073|REF_RGD_ID:5147403 11883625 IL22 interleukin 22 gene DOID:2841 asthma severity ISO RGD:1344987 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, mononuclear cell PMID:21535180|REF_RGD_ID:5147409 11883625 IL22 interleukin 22 gene DOID:2841 asthma treatment ISO RGD:1561292 D RGD:9068941 20200609 RGD PMID:21998459|REF_RGD_ID:11046261 11883625 IL22 interleukin 22 gene DOID:3525 middle cerebral artery infarction ISO RGD:1344987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25257527 11883625 IL22 interleukin 22 gene DOID:399 tuberculosis ISO RGD:1344987 D RGD:9068941 20200609 RGD PMID:21767990|REF_RGD_ID:5147402 11883625 IL22 interleukin 22 gene DOID:4483 rhinitis severity ISO RGD:1344987 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, mononuclear cell PMID:21535180|REF_RGD_ID:5147409 11883625 IL22 interleukin 22 gene DOID:630 genetic disease ISO RGD:1344987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883625 IL22 interleukin 22 gene DOID:820 myocarditis ISO RGD:1561292 D RGD:9068941 20200609 RGD PMID:16951323|REF_RGD_ID:5147414 11883625 IL22 interleukin 22 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:1344987 D RGD:9068941 20200609 RGD PMID:20463292|REF_RGD_ID:5147406 11883625 IL22 interleukin 22 gene DOID:9000955 Acute Otitis Media disease_progression ISO RGD:1561292 D RGD:9068941 20201118 RGD protein:increased expression:serum (rat) PMID:27497403|REF_RGD_ID:40818299 11883625 IL22 interleukin 22 gene DOID:9001415 Mycobacterium Infections ISO RGD:1344987 D RGD:9068941 20200609 RGD PMID:19864591|REF_RGD_ID:5147407 11883625 IL22 interleukin 22 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1561292 D RGD:9068941 20200609 RGD PMID:19269041|REF_RGD_ID:2311529 11883625 IL22 interleukin 22 gene DOID:9004484 Sepsis ISO RGD:1561292 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19664145|REF_RGD_ID:5147412 11883625 IL22 interleukin 22 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344987 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15122762|PMID:16212920|PMID:23375450 11883635 RASA3 RAS p21 protein activator 3 gene DOID:12449 aplastic anemia ISO RGD:737295 D RGD:9068941 20220825 MouseDO OMIM:609135 11883635 RASA3 RAS p21 protein activator 3 gene DOID:2222 factor X deficiency ISO RGD:1343935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 11883635 RASA3 RAS p21 protein activator 3 gene DOID:630 genetic disease ISO RGD:1343935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883635 RASA3 RAS p21 protein activator 3 gene DOID:9007661 Dwarfism ISO RGD:1343935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11883666 DNMT3L DNA methyltransferase 3 like gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1343645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 11883666 DNMT3L DNA methyltransferase 3 like gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1343645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11883666 DNMT3L DNA methyltransferase 3 like gene DOID:0110266 cataract 9 multiple types ISO RGD:1343645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11883666 DNMT3L DNA methyltransferase 3 like gene DOID:12849 autistic disorder ISO RGD:1343645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11883666 DNMT3L DNA methyltransferase 3 like gene DOID:630 genetic disease ISO RGD:1343645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883666 DNMT3L DNA methyltransferase 3 like gene DOID:8456 choline deficiency disease ISO RGD:1303239 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:17724018|REF_RGD_ID:9588267 11883666 DNMT3L DNA methyltransferase 3 like gene DOID:891 progressive myoclonus epilepsy ISO RGD:1343645 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11883666 DNMT3L DNA methyltransferase 3 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11883666 DNMT3L DNA methyltransferase 3 like gene DOID:9263 homocystinuria ISO RGD:1343645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11883666 DNMT3L DNA methyltransferase 3 like gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11883684 PUM1 pumilio RNA binding family member 1 gene DOID:0050952 spastic ataxia ISO RGD:1316232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 11883684 PUM1 pumilio RNA binding family member 1 gene DOID:0111743 cerebellar ataxia type 47 ISO RGD:1316232 D RGD:7240710 20190315 OMIM 11883684 PUM1 pumilio RNA binding family member 1 gene DOID:0111743 cerebellar ataxia type 47 ISO RGD:1316232 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 47 PMID:25741868|PMID:29474920|PMID:30903679|PMID:31859446 11883684 PUM1 pumilio RNA binding family member 1 gene DOID:1059 intellectual disability ISO RGD:1316232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11883684 PUM1 pumilio RNA binding family member 1 gene DOID:1826 epilepsy ISO RGD:1316232 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11883684 PUM1 pumilio RNA binding family member 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 11883684 PUM1 pumilio RNA binding family member 1 gene DOID:630 genetic disease ISO RGD:1316232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:29474920|PMID:30903679|PMID:31859446 11883684 PUM1 pumilio RNA binding family member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11883684 PUM1 pumilio RNA binding family member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1316232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11883684 PUM1 pumilio RNA binding family member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1316232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11883733 TGS1 trimethylguanosine synthase 1 gene DOID:630 genetic disease ISO RGD:1320573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883759 ARL16 ADP ribosylation factor like GTPase 16 gene DOID:630 genetic disease ISO RGD:1601700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883759 ARL16 ADP ribosylation factor like GTPase 16 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1601700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 11883773 LELP1 late cornified envelope like proline rich 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1604741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11883773 LELP1 late cornified envelope like proline rich 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1604741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11883773 LELP1 late cornified envelope like proline rich 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1604741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11883773 LELP1 late cornified envelope like proline rich 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1604741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11883773 LELP1 late cornified envelope like proline rich 1 gene DOID:5812 MHC class II deficiency ISO RGD:1604741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11883773 LELP1 late cornified envelope like proline rich 1 gene DOID:630 genetic disease ISO RGD:1604741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883773 LELP1 late cornified envelope like proline rich 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11883779 CSNK1G2 casein kinase 1 gamma 2 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:734368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 11883779 CSNK1G2 casein kinase 1 gamma 2 gene DOID:5339 cyclic hematopoiesis ISO RGD:734368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11883779 CSNK1G2 casein kinase 1 gamma 2 gene DOID:630 genetic disease ISO RGD:734368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883779 CSNK1G2 casein kinase 1 gamma 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11883790 LOXL2 lysyl oxidase like 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1318201 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11883790 LOXL2 lysyl oxidase like 2 gene DOID:12236 primary biliary cholangitis ISO RGD:1318201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023247 11883790 LOXL2 lysyl oxidase like 2 gene DOID:1883 hepatitis C ISO RGD:1318201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023247 11883790 LOXL2 lysyl oxidase like 2 gene DOID:2043 hepatitis B ISO RGD:1318201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023247 11883790 LOXL2 lysyl oxidase like 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1318201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24716982 11883790 LOXL2 lysyl oxidase like 2 gene DOID:630 genetic disease ISO RGD:1318201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883790 LOXL2 lysyl oxidase like 2 gene DOID:893 Wilson disease ISO RGD:1318201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023247 11883790 LOXL2 lysyl oxidase like 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11883790 LOXL2 lysyl oxidase like 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1318201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 11883790 LOXL2 lysyl oxidase like 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1318201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 11883790 LOXL2 lysyl oxidase like 2 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1318201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 11883790 LOXL2 lysyl oxidase like 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1318201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19330836|PMID:24014025 11883812 ZNF211 zinc finger protein 211 gene DOID:630 genetic disease ISO RGD:1351945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883821 CFAP43 cilia and flagella associated protein 43 gene DOID:0070170 spermatogenic failure 19 ISO RGD:1350133 D RGD:7240710 20190315 OMIM 11883821 CFAP43 cilia and flagella associated protein 43 gene DOID:0070170 spermatogenic failure 19 ISO RGD:1350133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 19 PMID:25741868|PMID:28552195|PMID:29277146|PMID:29449551 11883821 CFAP43 cilia and flagella associated protein 43 gene DOID:10283 prostate cancer ISO RGD:1350133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11883821 CFAP43 cilia and flagella associated protein 43 gene DOID:1572 normal pressure hydrocephalus ISO RGD:1350133 D RGD:7240710 20200226 OMIM 11883821 CFAP43 cilia and flagella associated protein 43 gene DOID:1572 normal pressure hydrocephalus ISO RGD:1350133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Normal pressure hydrocephalus PMID:25741868|PMID:29449551|PMID:31004071 11883821 CFAP43 cilia and flagella associated protein 43 gene DOID:630 genetic disease ISO RGD:1350133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11883866 LENEP lens epithelial protein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:69166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11883866 LENEP lens epithelial protein gene DOID:0111940 immunodeficiency 42 ISO RGD:69166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11883866 LENEP lens epithelial protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:69166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11883866 LENEP lens epithelial protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:69166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11883866 LENEP lens epithelial protein gene DOID:1540 parathyroid carcinoma ISO RGD:69166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11883866 LENEP lens epithelial protein gene DOID:5812 MHC class II deficiency ISO RGD:69166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11883866 LENEP lens epithelial protein gene DOID:630 genetic disease ISO RGD:69166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883866 LENEP lens epithelial protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:69166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11883871 EFHD2 EF-hand domain family member D2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1316863 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11883871 EFHD2 EF-hand domain family member D2 gene DOID:630 genetic disease ISO RGD:1316863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883871 EFHD2 EF-hand domain family member D2 gene DOID:9006302 Binge Drinking ISO RGD:1316863 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28397836 11883907 LOC100972682 olfactory receptor 5V1 gene DOID:11372 megacolon ISO RGD:1348304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11883907 LOC100972682 olfactory receptor 5V1 gene DOID:630 genetic disease ISO RGD:1348304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883911 FNIP2 folliculin interacting protein 2 gene DOID:630 genetic disease ISO RGD:2292121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883911 FNIP2 folliculin interacting protein 2 gene DOID:9002704 Leukoencephalopathies ISO RGD:12121120 D RGD:9068941 20210604 OMIA Hypomyelination of the central nervous system PMID:20973788|PMID:24272703|PMID:3577694|PMID:676669|PMID:731520 11883939 ABCB8 ATP binding cassette subfamily B member 8 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1316973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 11883939 ABCB8 ATP binding cassette subfamily B member 8 gene DOID:2843 long QT syndrome ISO RGD:1316973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 11883939 ABCB8 ATP binding cassette subfamily B member 8 gene DOID:630 genetic disease ISO RGD:1316973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883939 ABCB8 ATP binding cassette subfamily B member 8 gene DOID:9002801 Recurrence ISO RGD:1316973 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 11883939 ABCB8 ATP binding cassette subfamily B member 8 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1316973 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 11883963 SMIM14 small integral membrane protein 14 gene DOID:630 genetic disease ISO RGD:1606130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883963 SMIM14 small integral membrane protein 14 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1606130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 11883972 TOMM20L translocase of outer mitochondrial membrane 20 like gene DOID:0110992 Joubert syndrome 23 ISO RGD:1602627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 23 PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532 11883972 TOMM20L translocase of outer mitochondrial membrane 20 like gene DOID:630 genetic disease ISO RGD:1602627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11883981 MTMR2 myotubularin related protein 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1323545 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10802647|PMID:11335693|PMID:11354824|PMID:12398840|PMID:16199547|PMID:17576681|PMID:20981092|PMID:25025039|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27582484|PMID:27884173|PMID:28492532|PMID:32214227|PMID:32376792|PMID:9536098 11883981 MTMR2 myotubularin related protein 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1323545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10802647|PMID:11335693|PMID:11354824|PMID:12045210|PMID:12398840|PMID:14530412|PMID:16199547|PMID:17576681|PMID:17973976|PMID:20981092|PMID:25025039|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27582484|PMID:27884173|PMID:28492532|PMID:32214227|PMID:32376792|PMID:8190646|PMID:9536098 11883981 MTMR2 myotubularin related protein 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1323545 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:10802647|PMID:10856930|PMID:11283303|PMID:11335693|PMID:11354824|PMID:12045210|PMID:12398840|PMID:12668758|PMID:12925573|PMID:14530412|PMID:16162938|PMID:16199547|PMID:17576681|PMID:17973976|PMID:19587293|PMID:20410104|PMID:20981092|PMID:25025039|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27582484|PMID:27884173|PMID:28492532|PMID:32214227|PMID:32376792|PMID:32657593|PMID:8190646|PMID:9536098 11883981 MTMR2 myotubularin related protein 2 gene DOID:0080142 mosaic variegated aneuploidy syndrome 2 ISO RGD:1323545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 2 PMID:28492532 11883981 MTMR2 myotubularin related protein 2 gene DOID:0110191 Charcot-Marie-Tooth disease type 4B1 ISO RGD:1323545 D RGD:7240710 20180130 OMIM 11883981 MTMR2 myotubularin related protein 2 gene DOID:0110191 Charcot-Marie-Tooth disease type 4B1 ISO RGD:1323545 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B1 PMID:10802647|PMID:11354824|PMID:12398840|PMID:17576681|PMID:20301641|PMID:20981092|PMID:25741868|PMID:26467025|PMID:27582484|PMID:27884173|PMID:28492532|PMID:31070812|PMID:31680794|PMID:32214227|PMID:32376792|PMID:9536098 11883981 MTMR2 myotubularin related protein 2 gene DOID:1059 intellectual disability ISO RGD:1323545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11883981 MTMR2 myotubularin related protein 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1323545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10802647|PMID:11335693|PMID:11354824|PMID:12045210|PMID:12398840|PMID:14530412|PMID:15469949|PMID:15505184|PMID:17973976|PMID:20981092|PMID:23781969|PMID:25025039|PMID:25231362|PMID:25741868|PMID:26467025|PMID:27582484|PMID:28492532|PMID:32376792 11883981 MTMR2 myotubularin related protein 2 gene DOID:12704 ataxia telangiectasia ISO RGD:1323545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11883981 MTMR2 myotubularin related protein 2 gene DOID:630 genetic disease ISO RGD:1323545 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10802647|PMID:10856930|PMID:11283303|PMID:12668758|PMID:12925573|PMID:14530412|PMID:15998640|PMID:16162938|PMID:17576681|PMID:19587293|PMID:20410104|PMID:25741868|PMID:26467025|PMID:27582484|PMID:28492532|PMID:31070812|PMID:31680794|PMID:32376792|PMID:32657593|PMID:9536098 11884026 LRIT1 leucine rich repeat, Ig-like and transmembrane domains 1 gene DOID:630 genetic disease ISO RGD:736558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11884034 USP35 ubiquitin specific peptidase 35 gene DOID:1059 intellectual disability ISO RGD:1353275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11884034 USP35 ubiquitin specific peptidase 35 gene DOID:630 genetic disease ISO RGD:1353275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11884066 PES1 pescadillo ribosomal biogenesis factor 1 gene DOID:4947 cholangiocarcinoma ISO RGD:1345815 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34845814 11884066 PES1 pescadillo ribosomal biogenesis factor 1 gene DOID:630 genetic disease ISO RGD:1345815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11884101 MBD2 methyl-CpG binding domain protein 2 gene DOID:1059 intellectual disability ISO RGD:1312368 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11884101 MBD2 methyl-CpG binding domain protein 2 gene DOID:11832 visual epilepsy ISO RGD:1595452 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:12123686|REF_RGD_ID:9587847 11884101 MBD2 methyl-CpG binding domain protein 2 gene DOID:224 transient cerebral ischemia ISO RGD:1595452 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:12421618|REF_RGD_ID:9587846 11884101 MBD2 methyl-CpG binding domain protein 2 gene DOID:4448 macular degeneration ISO RGD:1312369 D RGD:9068941 20200609 RGD PMID:24939308|REF_RGD_ID:9588663 11884101 MBD2 methyl-CpG binding domain protein 2 gene DOID:5419 schizophrenia susceptibility ISO RGD:1312368 D RGD:9068941 20200609 RGD DNA:snps, haplotype:intron, 3' utr:c.1109+1001T>C (rs1145317), c.*450A>G (rs7614) (human) PMID:24849540|REF_RGD_ID:9588659 11884101 MBD2 methyl-CpG binding domain protein 2 gene DOID:630 genetic disease ISO RGD:1312368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11884101 MBD2 methyl-CpG binding domain protein 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1312368 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell PMID:20937307|REF_RGD_ID:9588623 11884101 MBD2 methyl-CpG binding domain protein 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11884101 MBD2 methyl-CpG binding domain protein 2 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1595452 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:23716065|REF_RGD_ID:9588620 11884101 MBD2 methyl-CpG binding domain protein 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1312368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11884101 MBD2 methyl-CpG binding domain protein 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1312369 D RGD:9068941 20220825 MouseDO OMIM:222100 11884101 Mbd2 methyl-CpG binding domain protein 2 gene DOID:8456 choline deficiency disease ISO RGD:1595452 D RGD:9068941 20200609 RGD DNA:hypermethylation:liver: PMID:17724018|REF_RGD_ID:9588267 11884112 KMT2E lysine methyltransferase 2E (inactive) gene DOID:0050908 myelodysplastic syndrome ISO RGD:1622294 D RGD:9068941 20200609 RGD PMID:18952892|REF_RGD_ID:9588548 11884112 KMT2E lysine methyltransferase 2E (inactive) gene DOID:0060041 autism spectrum disorder ISO RGD:1320090 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11884112 KMT2E lysine methyltransferase 2E (inactive) gene DOID:0060318 acute promyelocytic leukemia severity ISO RGD:1320090 D RGD:9068941 20200609 RGD mRNA:decreased expression:peripheral blood, bone marrow, mononuclear cells (human) PMID:24796963|REF_RGD_ID:9588539 11884112 KMT2E lysine methyltransferase 2E (inactive) gene DOID:0070070 autosomal dominant intellectual developmental disorder 40 ISO RGD:1320090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 40 PMID:25741868|PMID:28492532 11884112 KMT2E lysine methyltransferase 2E (inactive) gene DOID:10283 prostate cancer ISO RGD:1320090 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland (human) PMID:24200674|REF_RGD_ID:9587761 11884112 KMT2E lysine methyltransferase 2E (inactive) gene DOID:1240 leukemia ISO RGD:1320090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18818388 11884112 KMT2E lysine methyltransferase 2E (inactive) gene DOID:12849 autistic disorder ISO RGD:1320090 D RGD:9068941 20200609 RGD DNA:insertions, deletions:multiple (human) PMID:25284784|REF_RGD_ID:9588547 11884112 KMT2E lysine methyltransferase 2E (inactive) gene DOID:1612 breast cancer ISO RGD:1320090 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast (human) PMID:23754336|REF_RGD_ID:9588236 11884112 KMT2E lysine methyltransferase 2E (inactive) gene DOID:1826 epilepsy ISO RGD:1320090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868|PMID:31079897 11884112 KMT2E lysine methyltransferase 2E (inactive) gene DOID:4362 cervical cancer ISO RGD:1320090 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:25172963|REF_RGD_ID:9588553 11884112 KMT2E lysine methyltransferase 2E (inactive) gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11884112 KMT2E lysine methyltransferase 2E (inactive) gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1320090 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood, T cell, CD4+ (human) PMID:16046540|REF_RGD_ID:9588555 11884112 KMT2E lysine methyltransferase 2E (inactive) gene DOID:630 genetic disease ISO RGD:1320090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31079897|PMID:33004838 11884112 KMT2E lysine methyltransferase 2E (inactive) gene DOID:8692 myeloid leukemia ISO RGD:1320090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18854576 11884112 KMT2E lysine methyltransferase 2E (inactive) gene DOID:9001969 O'Donnell-Luria-Rodan Syndrome ISO RGD:1320090 D RGD:7240710 20190918 OMIM 11884112 KMT2E lysine methyltransferase 2E (inactive) gene DOID:9001969 O'Donnell-Luria-Rodan Syndrome ISO RGD:1320090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebellar vermis | ClinVar Annotator: match by term: O'Donnell-Luria-Rodan syndrome PMID:25741868|PMID:28492532|PMID:31079897 11884112 KMT2E lysine methyltransferase 2E (inactive) gene DOID:9002704 Leukoencephalopathies ISO RGD:1320090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy PMID:25741868 11884112 KMT2E lysine methyltransferase 2E (inactive) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11884112 KMT2E lysine methyltransferase 2E (inactive) gene DOID:9008086 Developmental Disabilities ISO RGD:1320090 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11884162 CMIP c-Maf inducing protein gene DOID:10485 esophageal atresia ISO RGD:1603294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 11884162 CMIP c-Maf inducing protein gene DOID:630 genetic disease ISO RGD:1603294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11884162 CMIP c-Maf inducing protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 11884187 SP6 Sp6 transcription factor gene DOID:2187 amelogenesis imperfecta ISO RGD:1306768 D RGD:9068941 20210423 RGD PMID:22676574|REF_RGD_ID:10047189 11884187 SP6 Sp6 transcription factor gene DOID:630 genetic disease ISO RGD:1315575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11884187 SP6 Sp6 transcription factor gene DOID:9002275 Amelogenesis Imperfecta Type 1K ISO RGD:1315575 D RGD:7240710 20221102 OMIM 11884196 GRIK5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:0050888 syndromic intellectual disability ISO RGD:730907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 11884196 GRIK5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:11832 visual epilepsy ISO RGD:2735 D RGD:9068941 20200609 RGD PMID:12080343|REF_RGD_ID:625595 11884196 GRIK5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:730907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11884196 GRIK5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:1342 congenital hypoplastic anemia ISO RGD:730907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11884196 GRIK5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:2340 craniosynostosis ISO RGD:730907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:28492532 11884196 GRIK5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:3328 temporal lobe epilepsy ISO RGD:2735 D RGD:9068941 20200609 RGD protein:decreased expression:forebrain, postsynaptic density PMID:11226670|REF_RGD_ID:5147998 11884196 GRIK5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:3328 temporal lobe epilepsy ISO RGD:730907 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:9848088|REF_RGD_ID:2316538 11884196 GRIK5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:5419 schizophrenia ISO RGD:730907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11884196 GRIK5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:630 genetic disease ISO RGD:730907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11884196 GRIK5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:730907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11884196 GRIK5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:9004009 Reperfusion Injury ISO RGD:2735 D RGD:9068941 20200609 RGD PMID:17639597|REF_RGD_ID:2316528 11884196 GRIK5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:9269 maple syrup urine disease ISO RGD:730907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11884224 SGTA small glutamine rich tetratricopeptide repeat co-chaperone alpha gene DOID:630 genetic disease ISO RGD:735887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11884224 SGTA small glutamine rich tetratricopeptide repeat co-chaperone alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11884244 SNX7 sorting nexin 7 gene DOID:630 genetic disease ISO RGD:1313530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11884244 SNX7 sorting nexin 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11884257 LYPD1 LY6/PLAUR domain containing 1 gene DOID:630 genetic disease ISO RGD:1349683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11884271 LOC100989536 ret finger protein-like 4A gene DOID:630 genetic disease ISO RGD:1349182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11884275 ZNF177 zinc finger protein 177 gene DOID:12849 autistic disorder ISO RGD:1353253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11884275 ZNF177 zinc finger protein 177 gene DOID:630 genetic disease ISO RGD:1353253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11884275 ZNF177 zinc finger protein 177 gene DOID:9000217 Stomach Neoplasms ISO RGD:1353253 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11884304 KLHL28 kelch like family member 28 gene DOID:13636 Fanconi anemia ISO RGD:1322718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532|PMID:29895858|PMID:30075111 11884304 KLHL28 kelch like family member 28 gene DOID:630 genetic disease ISO RGD:1322718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11884304 KLHL28 kelch like family member 28 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1322718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11884325 CASP5 caspase 5 gene DOID:1059 intellectual disability ISO RGD:1351672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11884325 CASP5 caspase 5 gene DOID:10652 Alzheimer's disease ISO RGD:1351672 D RGD:9068941 20200609 RGD PMID:12633148|REF_RGD_ID:13782269 11884325 CASP5 caspase 5 gene DOID:12704 ataxia telangiectasia ISO RGD:1351672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11884325 CASP5 caspase 5 gene DOID:630 genetic disease ISO RGD:1351672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11884325 CASP5 caspase 5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1351672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11884338 BRCC3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1344323 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11884338 BRCC3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:0050476 Barth syndrome ISO RGD:1344323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11884338 BRCC3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:0050800 creatine transporter deficiency ISO RGD:1344323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11884338 BRCC3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1344323 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11884338 BRCC3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:10588 adrenoleukodystrophy ISO RGD:1344323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11884338 BRCC3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1344323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11884338 BRCC3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:12849 autistic disorder ISO RGD:1344323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11884338 BRCC3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:13628 favism ISO RGD:1344323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11884338 BRCC3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1344323 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11884338 BRCC3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:607 paraplegia ISO RGD:1344323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11884338 BRCC3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:9000888 Pregnancy in Diabetics ISO RGD:1557359 D RGD:9068941 20200609 RGD mRNA:increased expression:embryo: PMID:18323671|REF_RGD_ID:9586066 11884338 BRCC3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:9002720 Splenomegaly ISO RGD:1344323 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11884338 BRCC3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:9005463 Occupational Diseases ISO RGD:1344323 D RGD:9068941 20200609 RGD PMID:24973494|REF_RGD_ID:9586067 11884338 BRCC3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 11884372 FSHR follicle stimulating hormone receptor gene DOID:0080493 ovarian dysgenesis 1 ISO RGD:735571 D RGD:7240710 20180130 OMIM 11884372 FSHR follicle stimulating hormone receptor gene DOID:0080493 ovarian dysgenesis 1 ISO RGD:735571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 1 PMID:10022448|PMID:10551778|PMID:11036902|PMID:11213123|PMID:11754099|PMID:11889179|PMID:12571157|PMID:15249125|PMID:15579795|PMID:15886248|PMID:16084888|PMID:16864747|PMID:17826728|PMID:18159088|PMID:19172541|PMID:19400992|PMID:20087398|PMID:20237833|PMID:21752882|PMID:22401810|PMID:23419799|PMID:25741868|PMID:28492532|PMID:29157895|PMID:30691934|PMID:31830376|PMID:7553856|PMID:8178824|PMID:9020851|PMID:9769327|PMID:9851774 11884372 FSHR follicle stimulating hormone receptor gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:735571 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 11884372 FSHR follicle stimulating hormone receptor gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:735571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:22617343|PMID:28492532 11884372 FSHR follicle stimulating hormone receptor gene DOID:11612 polycystic ovary syndrome ISO RGD:735571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22885925 11884372 FSHR follicle stimulating hormone receptor gene DOID:13938 amenorrhea ISO RGD:735571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:25741868 11884372 FSHR follicle stimulating hormone receptor gene DOID:14450 46 XX gonadal dysgenesis ISO RGD:735571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 11884372 FSHR follicle stimulating hormone receptor gene DOID:2999 granulosa cell tumor ISO RGD:735571 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01) PMID:11994539|REF_RGD_ID:2289157 11884372 FSHR follicle stimulating hormone receptor gene DOID:5425 ovarian hyperstimulation syndrome ISO RGD:735571 D RGD:7240710 20180130 OMIM 11884372 FSHR follicle stimulating hormone receptor gene DOID:5425 ovarian hyperstimulation syndrome ISO RGD:735571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian hyperstimulation syndrome | ClinVar Annotator: match by term: Ovarian response to FSH stimulation PMID:10022448|PMID:11036902|PMID:11213123|PMID:12930928|PMID:15080154|PMID:15249125|PMID:15579795|PMID:15886248|PMID:16084888|PMID:16278261|PMID:16864747|PMID:17721928|PMID:17826728|PMID:18159088|PMID:19400992|PMID:21752882|PMID:22401810|PMID:23419799|PMID:25741868|PMID:28492532|PMID:8894317|PMID:9402264|PMID:9769327 11884372 FSHR follicle stimulating hormone receptor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome 11884372 FSHR follicle stimulating hormone receptor gene DOID:630 genetic disease ISO RGD:735571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11884372 FSHR follicle stimulating hormone receptor gene DOID:9002762 Ovarian Neoplasms ISO RGD:735571 D RGD:9068941 20200609 RGD sex cord-stromal tumors;DNA:point mutation:F591S PMID:9100567|REF_RGD_ID:1601234 11884387 PLAT plasminogen activator, tissue type gene DOID:0060046 aphasia ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12690208 11884387 PLAT plasminogen activator, tissue type gene DOID:0060318 acute promyelocytic leukemia ISO RGD:736468 D RGD:9068941 20200609 RGD protein:increased expression:leukocyte (human) PMID:10861807|REF_RGD_ID:11541060 11884387 PLAT plasminogen activator, tissue type gene DOID:0060573 von Willebrand's disease 1 treatment ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:1419807|REF_RGD_ID:11552591 11884387 PLAT plasminogen activator, tissue type gene DOID:0060903 thrombosis ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12677255|PMID:19348381|PMID:2123154|PMID:22352330 11884387 PLAT plasminogen activator, tissue type gene DOID:0090039 torsion dystonia 6 ISO RGD:736468 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 11884387 PLAT plasminogen activator, tissue type gene DOID:0111959 immunodeficiency 15B ISO RGD:736468 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 11884387 PLAT plasminogen activator, tissue type gene DOID:10554 meningoencephalitis ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1430592 11884387 PLAT plasminogen activator, tissue type gene DOID:10763 hypertension ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 11884387 PLAT plasminogen activator, tissue type gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:736468 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:9543574|REF_RGD_ID:11541055 11884387 PLAT plasminogen activator, tissue type gene DOID:11162 respiratory failure ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25331496 11884387 PLAT plasminogen activator, tissue type gene DOID:11247 disseminated intravascular coagulation ISO RGD:736468 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:23726093|REF_RGD_ID:11541052 11884387 PLAT plasminogen activator, tissue type gene DOID:11247 disseminated intravascular coagulation treatment ISO RGD:3342 D RGD:9068941 20200609 RGD associated with Jaundice, Obstructive PMID:1425827|REF_RGD_ID:11541087 11884387 PLAT plasminogen activator, tissue type gene DOID:11446 sciatic neuropathy ISO RGD:3342 D RGD:9068941 20200609 RGD PMID:18716863|REF_RGD_ID:6483827 11884387 PLAT plasminogen activator, tissue type gene DOID:115 cardiac tamponade ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9633741 11884387 PLAT plasminogen activator, tissue type gene DOID:11713 diabetic angiopathy ISO RGD:736468 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:18945481|REF_RGD_ID:2311663 11884387 PLAT plasminogen activator, tissue type gene DOID:11714 gestational diabetes ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:17259140|REF_RGD_ID:2311668 11884387 PLAT plasminogen activator, tissue type gene DOID:118 pericardial effusion ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9633741 11884387 PLAT plasminogen activator, tissue type gene DOID:11847 coronary thrombosis ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1452937|PMID:15301905|PMID:8172379 11884387 PLAT plasminogen activator, tissue type gene DOID:12134 factor VIII deficiency treatment ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:1419807|REF_RGD_ID:11552591 11884387 PLAT plasminogen activator, tissue type gene DOID:1247 blood coagulation disease ISO RGD:736468 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:1420814|REF_RGD_ID:11541080 11884387 PLAT plasminogen activator, tissue type gene DOID:12554 hemolytic-uremic syndrome ISO RGD:736468 D RGD:9068941 20200609 RGD associated with Escherichia coli Infections;protein:increased expression:plasma (human) PMID:11777999|REF_RGD_ID:11541069 11884387 PLAT plasminogen activator, tissue type gene DOID:13100 intracranial vasospasm ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19057314|PMID:29651748 11884387 PLAT plasminogen activator, tissue type gene DOID:1461 cholesterol embolism ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7939511 11884387 PLAT plasminogen activator, tissue type gene DOID:1558 angioedema ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16184341|PMID:18453163|PMID:20547619 11884387 PLAT plasminogen activator, tissue type gene DOID:1824 status epilepticus ISO RGD:3342 D RGD:9068941 20200609 RGD PMID:17040480|REF_RGD_ID:6484215 11884387 PLAT plasminogen activator, tissue type gene DOID:1936 atherosclerosis ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12677255 11884387 PLAT plasminogen activator, tissue type gene DOID:2213 hemorrhagic disease ISO RGD:736468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 11884387 PLAT plasminogen activator, tissue type gene DOID:224 transient cerebral ischemia ISO RGD:3342 D RGD:9068941 20200609 RGD Protein:increased expression, increased activity:hippocampus (rat) PMID:15882815|REF_RGD_ID:1580875 11884387 PLAT plasminogen activator, tissue type gene DOID:2316 brain ischemia ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10572812|PMID:11108748|PMID:11940547|PMID:12221155|PMID:12511774|PMID:14986460|PMID:15017018|PMID:15087567|PMID:16126134|PMID:16763187|PMID:16809570|PMID:17086147|PMID:17525387|PMID:17903870|PMID:20123226|PMID:20212195|PMID:20488584|PMID:20536612|PMID:21037505|PMID:23876515|PMID:7477192|PMID:9259745|PMID:9400355|PMID:9479658|PMID:9566367|PMID:9633741 11884387 PLAT plasminogen activator, tissue type gene DOID:2316 brain ischemia no_association ISO RGD:736468 D RGD:9068941 20200609 RGD DNA:polymorphism:-7351C>T (human) PMID:16179568|REF_RGD_ID:1580879 11884387 PLAT plasminogen activator, tissue type gene DOID:2945 severe acute respiratory syndrome ISO RGD:736468 D RGD:9068941 20200625 RGD protein:increased expression:plasma (human) PMID:16274108|REF_RGD_ID:30309949 11884387 PLAT plasminogen activator, tissue type gene DOID:2988 antiphospholipid syndrome ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:16320350|REF_RGD_ID:1580877 11884387 PLAT plasminogen activator, tissue type gene DOID:3021 acute kidney failure ISO RGD:736468 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:9767551|REF_RGD_ID:11541071 11884387 PLAT plasminogen activator, tissue type gene DOID:3042 allergic contact dermatitis ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 11884387 PLAT plasminogen activator, tissue type gene DOID:3454 brain infarction ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16190367 11884387 PLAT plasminogen activator, tissue type gene DOID:3490 Noonan syndrome ISO RGD:736468 D RGD:9068941 20200609 RGD protein:increased activity:blood: PMID:20686427|REF_RGD_ID:13207331 11884387 PLAT plasminogen activator, tissue type gene DOID:3525 middle cerebral artery infarction ISO RGD:3342 D RGD:9068941 20200609 RGD PMID:14512838|REF_RGD_ID:1580876 11884387 PLAT plasminogen activator, tissue type gene DOID:3525 middle cerebral artery infarction ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12297567|PMID:17690543|PMID:18453163|PMID:20547619|PMID:29651748 11884387 PLAT plasminogen activator, tissue type gene DOID:3526 cerebral infarction ISO RGD:736468 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1579960|PMID:16148626|PMID:18195371|PMID:18544249|PMID:1899364|PMID:9183334 11884387 PLAT plasminogen activator, tissue type gene DOID:3602 toxic encephalopathy ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19442825 11884387 PLAT plasminogen activator, tissue type gene DOID:3650 lactic acidosis ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25331496 11884387 PLAT plasminogen activator, tissue type gene DOID:4074 pancreatic adenocarcinoma ISO RGD:736468 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (human) PMID:16733850|REF_RGD_ID:11541045 11884387 PLAT plasminogen activator, tissue type gene DOID:4193 intracranial thrombosis ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8678742 11884387 PLAT plasminogen activator, tissue type gene DOID:4724 brain edema ISO RGD:3342 D RGD:9068941 20200609 RGD associated with Burns;mRNA:increased expression:brain PMID:18718505|REF_RGD_ID:6483826 11884387 PLAT plasminogen activator, tissue type gene DOID:4724 brain edema ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29651748 11884387 PLAT plasminogen activator, tissue type gene DOID:5844 myocardial infarction ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10171637|PMID:10505926|PMID:10645301|PMID:10914357|PMID:11382373|PMID:11489769|PMID:12074692|PMID:12227717|PMID:12848087|PMID:1430592|PMID:1492007|PMID:15215796|PMID:15301905|PMID:18195371|PMID:1898952|PMID:1899364|PMID:1900011|PMID:19341228|PMID:20122609|PMID:2104561|PMID:2105625|PMID:2494454|PMID:2505604|PMID:2521976|PMID:3089627|PMID:3121335|PMID:7488445|PMID:7723950|PMID:7775709|PMID:7902905|PMID:8328192|PMID:8554022|PMID:8598594|PMID:9183334 11884387 PLAT plasminogen activator, tissue type gene DOID:5844 myocardial infarction ISO RGD:736468 D RGD:9068941 20200609 RGD DNA:snp:enhancer:g.-7351C>T (human) PMID:11848437|REF_RGD_ID:1580881 11884387 PLAT plasminogen activator, tissue type gene DOID:5844 myocardial infarction treatment ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:7994806|REF_RGD_ID:11541077 11884387 PLAT plasminogen activator, tissue type gene DOID:6000 congestive heart failure ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 11884387 PLAT plasminogen activator, tissue type gene DOID:615 leukopenia ISO RGD:736468 D RGD:9068941 20200609 RGD associated with Sepsis;protein:decreased expression:plasma (human) PMID:7646991|REF_RGD_ID:11552575 11884387 PLAT plasminogen activator, tissue type gene DOID:630 genetic disease ISO RGD:736468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11884387 PLAT plasminogen activator, tissue type gene DOID:670 amphetamine abuse ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15659235 11884387 PLAT plasminogen activator, tissue type gene DOID:8283 peritonitis ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:18571586|REF_RGD_ID:6484139 11884387 PLAT plasminogen activator, tissue type gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:736468 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:2129164|REF_RGD_ID:11541072 11884387 PLAT plasminogen activator, tissue type gene DOID:9000158 Spinal Epidural Hematoma ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10914357|PMID:12227717 11884387 PLAT plasminogen activator, tissue type gene DOID:9001268 Embolism and Thrombosis ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9684808 11884387 PLAT plasminogen activator, tissue type gene DOID:9001521 Subdural Hematoma ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1899364 11884387 PLAT plasminogen activator, tissue type gene DOID:9001553 Spinal Cord Compression ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12227717 11884387 PLAT plasminogen activator, tissue type gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3342 D RGD:9068941 20200609 RGD PMID:20035854|REF_RGD_ID:6484134 11884387 PLAT plasminogen activator, tissue type gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11884387 PLAT plasminogen activator, tissue type gene DOID:9001600 Wounds and Injuries ISO RGD:3342 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:25423126|REF_RGD_ID:11541076 11884387 PLAT plasminogen activator, tissue type gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8763515 11884387 PLAT plasminogen activator, tissue type gene DOID:9002079 Paresis ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12690208 11884387 PLAT plasminogen activator, tissue type gene DOID:9002165 Diabetic Nephropathies ISO RGD:736468 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:16598198|REF_RGD_ID:2311671 11884387 PLAT plasminogen activator, tissue type gene DOID:9002314 Acute Traumatic Coagulopathy ISO RGD:3342 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:25676919|REF_RGD_ID:11554180 11884387 PLAT plasminogen activator, tissue type gene DOID:9002314 Acute Traumatic Coagulopathy treatment ISO RGD:3342 D RGD:9068941 20200609 RGD PMID:25325345|REF_RGD_ID:11554179 11884387 PLAT plasminogen activator, tissue type gene DOID:9002522 Embolism ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16148626 11884387 PLAT plasminogen activator, tissue type gene DOID:9002669 Hypoxia ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25331496 11884387 PLAT plasminogen activator, tissue type gene DOID:9002676 Cerebral Hemorrhage ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10501537|PMID:11113218|PMID:11940547|PMID:1430592|PMID:14630814|PMID:1579960|PMID:16126134|PMID:16190367|PMID:16908730|PMID:17690543|PMID:18346647|PMID:18369171|PMID:18753474|PMID:1899364|PMID:19095969|PMID:20212195|PMID:21088392|PMID:22436003|PMID:23876515|PMID:29651748|PMID:7477192|PMID:7723950|PMID:8969996|PMID:9836764 11884387 PLAT plasminogen activator, tissue type gene DOID:9002676 Cerebral Hemorrhage severity ISO RGD:732079 D RGD:9068941 20200609 RGD associated with Brain Injuries PMID:25673638|REF_RGD_ID:11541064 11884387 PLAT plasminogen activator, tissue type gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:3342 D RGD:9068941 20200609 RGD human protein in a rat model PMID:12220690|REF_RGD_ID:11537477 11884387 PLAT plasminogen activator, tissue type gene DOID:9002906 Multiple Organ Failure ISO RGD:3342 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:16977483|REF_RGD_ID:11081009 11884387 PLAT plasminogen activator, tissue type gene DOID:9002955 Nerve Degeneration ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19911010 11884387 PLAT plasminogen activator, tissue type gene DOID:9003049 Femur Head Necrosis ISO RGD:736468 D RGD:9068941 20200609 RGD DNA:insertion:intron:IVS8 (human) PMID:24025446|REF_RGD_ID:11541046 11884387 PLAT plasminogen activator, tissue type gene DOID:9003104 Intracranial Hemorrhages ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11320361|PMID:12230423|PMID:15017018|PMID:15215796|PMID:15557913|PMID:17612434|PMID:17687131|PMID:17903947|PMID:20123226|PMID:20536612|PMID:2104561|PMID:3168586|PMID:7902905|PMID:8961984 11884387 PLAT plasminogen activator, tissue type gene DOID:9003121 Thromboembolism ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8451030 11884387 PLAT plasminogen activator, tissue type gene DOID:9003505 Venous Thromboembolism ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16167916 11884387 PLAT plasminogen activator, tissue type gene DOID:9003646 Arterial Thrombosis ISO RGD:736468 D RGD:9068941 20200609 RGD associated with Antiphospholipid Syndrome PMID:14630788|REF_RGD_ID:11541057 11884387 PLAT plasminogen activator, tissue type gene DOID:9003646 Arterial Thrombosis treatment ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:24806322|REF_RGD_ID:11541078 11884387 PLAT plasminogen activator, tissue type gene DOID:9003669 Low Back Pain ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7888893 11884387 PLAT plasminogen activator, tissue type gene DOID:9003676 Brain Hypoxia-Ischemia onset ISO RGD:3342 D RGD:9068941 20200609 RGD PMID:18467699|REF_RGD_ID:6483831 11884387 PLAT plasminogen activator, tissue type gene DOID:9003736 Central Nervous System Viral Diseases ISO RGD:3342 D RGD:9068941 20200609 RGD protein:increased expression:cerebellum (rat) PMID:19279110|REF_RGD_ID:11537478 11884387 PLAT plasminogen activator, tissue type gene DOID:9003814 Neurologic Manifestations ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:22436003|PMID:23876515|PMID:29651748 11884387 PLAT plasminogen activator, tissue type gene DOID:9003871 Venous Thrombosis ISO RGD:736468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 11884387 PLAT plasminogen activator, tissue type gene DOID:9004009 Reperfusion Injury ISO RGD:3342 D RGD:9068941 20200609 RGD PMID:15223382|REF_RGD_ID:2311674 11884387 PLAT plasminogen activator, tissue type gene DOID:9004009 Reperfusion Injury ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9472885 11884387 PLAT plasminogen activator, tissue type gene DOID:9004283 Transplant Rejection susceptibility ISO RGD:736468 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:11423054|REF_RGD_ID:11541079 11884387 PLAT plasminogen activator, tissue type gene DOID:9004484 Sepsis treatment ISO RGD:3342 D RGD:9068941 20200609 RGD PMID:12000738|REF_RGD_ID:1598921 11884387 PLAT plasminogen activator, tissue type gene DOID:9005036 Bacteremia ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1430592 11884387 PLAT plasminogen activator, tissue type gene DOID:9005700 Airway Obstruction ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25331496 11884387 PLAT plasminogen activator, tissue type gene DOID:9005741 Intracranial Embolism and Thrombosis ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7482654|PMID:8427107 11884387 PLAT plasminogen activator, tissue type gene DOID:9005930 Endotoxemia treatment ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:9091588|REF_RGD_ID:11541073 11884387 PLAT plasminogen activator, tissue type gene DOID:9006024 Hypotension ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1492007 11884387 PLAT plasminogen activator, tissue type gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3342 D RGD:9068941 20200609 RGD protein:increased expression:heart right ventricle, heart left ventricle (rat) PMID:9405184|REF_RGD_ID:11080746 11884387 PLAT plasminogen activator, tissue type gene DOID:9006182 Carotid Artery Injuries ISO RGD:3342 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:carotid artery (rat) PMID:8343497|REF_RGD_ID:11537479 11884387 PLAT plasminogen activator, tissue type gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15557913 11884387 PLAT plasminogen activator, tissue type gene DOID:9006646 Metabolic Syndrome ISO RGD:736468 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18249307|REF_RGD_ID:2311664 11884387 PLAT plasminogen activator, tissue type gene DOID:9006924 Cardiogenic Shock ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1430592 11884387 PLAT plasminogen activator, tissue type gene DOID:9007096 Stroke ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10171637|PMID:10346413|PMID:10436095|PMID:10572812|PMID:11061250|PMID:11108748|PMID:11113218|PMID:11239184|PMID:11739841|PMID:11940547|PMID:12221155|PMID:12230423|PMID:12384244|PMID:12511774|PMID:14581697|PMID:14657446|PMID:14986460|PMID:15016487|PMID:15017018|PMID:15087567|PMID:1598096|PMID:16126134|PMID:16184341|PMID:16763187|PMID:16809570|PMID:16908730|PMID:17086147|PMID:17525387|PMID:17612434|PMID:17903870|PMID:17903947|PMID:18346647|PMID:18369171|PMID:18560214|PMID:18753472|PMID:18753474|PMID:19286598|PMID:20123226|PMID:20212195|PMID:20488584|PMID:20536612|PMID:20705933|PMID:2124386|PMID:23876515|PMID:2514002|PMID:25245553|PMID:7477192|PMID:8427107|PMID:8598594|PMID:9056608|PMID:9259745|PMID:9400355|PMID:9472885|PMID:9479657|PMID:9479658|PMID:9566367|PMID:9633741|PMID:9707184|PMID:9836764|PMID:9933289 11884387 PLAT plasminogen activator, tissue type gene DOID:9007096 Stroke ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:17689411|PMID:7477192|REF_RGD_ID:2311666|REF_RGD_ID:9698433 11884387 PLAT plasminogen activator, tissue type gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22507835 11884387 PLAT plasminogen activator, tissue type gene DOID:9007730 Burns ISO RGD:736468 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:11525850|REF_RGD_ID:11541048 11884387 PLAT plasminogen activator, tissue type gene DOID:9007923 Back Pain ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12227717 11884387 PLAT plasminogen activator, tissue type gene DOID:9008212 Diabetic Foot ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:17275886|REF_RGD_ID:2311669 11884387 PLAT plasminogen activator, tissue type gene DOID:9008217 Hemorrhage ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15016487|PMID:15502123|PMID:22507835|PMID:2514002|PMID:8082347|PMID:8427107|PMID:9199818|PMID:9266785 11884387 PLAT plasminogen activator, tissue type gene DOID:9008510 Chronic Hepatitis ISO RGD:736468 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:1909901|REF_RGD_ID:11541068 11884387 PLAT plasminogen activator, tissue type gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:736468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 11884387 PLAT plasminogen activator, tissue type gene DOID:9352 type 2 diabetes mellitus ISO RGD:3342 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:14693179|REF_RGD_ID:2311675 11884387 PLAT plasminogen activator, tissue type gene DOID:9352 type 2 diabetes mellitus ISO RGD:3342 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (rat) PMID:10899350|REF_RGD_ID:1598920 11884387 PLAT plasminogen activator, tissue type gene DOID:9352 type 2 diabetes mellitus ISO RGD:732079 D RGD:9068941 20200609 RGD PMID:16038272|REF_RGD_ID:2311672 11884387 PLAT plasminogen activator, tissue type gene DOID:9352 type 2 diabetes mellitus ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:16724515|PMID:18235054|REF_RGD_ID:2311665|REF_RGD_ID:2311670 11884387 PLAT plasminogen activator, tissue type gene DOID:9352 type 2 diabetes mellitus ISO RGD:736468 D RGD:9068941 20200609 RGD associated with Obesity PMID:15901895|REF_RGD_ID:2311673 11884387 PLAT plasminogen activator, tissue type gene DOID:9477 pulmonary embolism ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1899825|PMID:19415734|PMID:2123154|PMID:3105914|PMID:3122266|PMID:8082347|PMID:8451030|PMID:9199818|PMID:9266785 11884387 PLAT plasminogen activator, tissue type gene DOID:9743 diabetic neuropathy ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:17636064|REF_RGD_ID:2311667 11884387 PLAT plasminogen activator, tissue type gene DOID:9744 type 1 diabetes mellitus ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:14652638|REF_RGD_ID:2311676 11884387 PLAT plasminogen activator, tissue type gene DOID:9970 obesity ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:12818410|REF_RGD_ID:2311677 11884407 LRRC3 leucine rich repeat containing 3 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:732363 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 11884407 LRRC3 leucine rich repeat containing 3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:732363 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11884407 LRRC3 leucine rich repeat containing 3 gene DOID:0110266 cataract 9 multiple types ISO RGD:732363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11884407 LRRC3 leucine rich repeat containing 3 gene DOID:12849 autistic disorder ISO RGD:732363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11884407 LRRC3 leucine rich repeat containing 3 gene DOID:630 genetic disease ISO RGD:732363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11884407 LRRC3 leucine rich repeat containing 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:732363 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11884407 LRRC3 leucine rich repeat containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11884407 LRRC3 leucine rich repeat containing 3 gene DOID:9263 homocystinuria ISO RGD:732363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11884407 LRRC3 leucine rich repeat containing 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:732363 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11884412 C17H17orf49 chromosome 17 C17orf49 homolog gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1606738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11884412 C17H17orf49 chromosome 17 C17orf49 homolog gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1606738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 11884412 C17H17orf49 chromosome 17 C17orf49 homolog gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1606738 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11884412 C17H17orf49 chromosome 17 C17orf49 homolog gene DOID:12177 common variable immunodeficiency ISO RGD:1606738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11884412 C17H17orf49 chromosome 17 C17orf49 homolog gene DOID:2729 dyskeratosis congenita ISO RGD:1606738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11884433 NOC3L NOC3 like DNA replication regulator gene DOID:0080382 nephrotic syndrome type 3 ISO RGD:1316739 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 3 PMID:18975016|PMID:20591883|PMID:23595123|PMID:24130771|PMID:24247120|PMID:25741868|PMID:26668027|PMID:28492532 11884433 NOC3L NOC3 like DNA replication regulator gene DOID:1184 nephrotic syndrome ISO RGD:1316739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 11884433 NOC3L NOC3 like DNA replication regulator gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1316739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868 11884433 NOC3L NOC3 like DNA replication regulator gene DOID:630 genetic disease ISO RGD:1316739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11884461 XKR6 XK related 6 gene DOID:630 genetic disease ISO RGD:1321790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11884461 XKR6 XK related 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11884462 NR2C2AP nuclear receptor 2C2 associated protein gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1606467 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 11884462 NR2C2AP nuclear receptor 2C2 associated protein gene DOID:5812 MHC class II deficiency ISO RGD:1606467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:25741868|PMID:28492532 11884462 NR2C2AP nuclear receptor 2C2 associated protein gene DOID:630 genetic disease ISO RGD:1606467 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11884462 NR2C2AP nuclear receptor 2C2 associated protein gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1606467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11884479 FLAD1 flavin adenine dinucleotide synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1604288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11884479 FLAD1 flavin adenine dinucleotide synthetase 1 gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1604288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:27259049|PMID:28492532|PMID:30982706 11884479 FLAD1 flavin adenine dinucleotide synthetase 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1604288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11884479 FLAD1 flavin adenine dinucleotide synthetase 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1604288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11884479 FLAD1 flavin adenine dinucleotide synthetase 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1604288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11884479 FLAD1 flavin adenine dinucleotide synthetase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1604288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11884479 FLAD1 flavin adenine dinucleotide synthetase 1 gene DOID:5812 MHC class II deficiency ISO RGD:1604288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11884479 FLAD1 flavin adenine dinucleotide synthetase 1 gene DOID:630 genetic disease ISO RGD:1604288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11884479 FLAD1 flavin adenine dinucleotide synthetase 1 gene DOID:9002543 Myopathy with Abnormal Lipid Metabolism ISO RGD:1604288 D RGD:7240710 20190315 OMIM 11884479 FLAD1 flavin adenine dinucleotide synthetase 1 gene DOID:9002543 Myopathy with Abnormal Lipid Metabolism ISO RGD:1604288 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy with abnormal lipid metabolism PMID:25741868|PMID:27259049|PMID:28492532 11884479 FLAD1 flavin adenine dinucleotide synthetase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11884500 NR0B1 nuclear receptor subfamily 0 group B member 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11884500 NR0B1 nuclear receptor subfamily 0 group B member 1 gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:1350844 D RGD:7240710 20180130 OMIM 11884500 NR0B1 nuclear receptor subfamily 0 group B member 1 gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:1350844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenal hypoplasia, congenital | ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked PMID:10210708|PMID:10361383|PMID:10522996|PMID:10599709|PMID:10675358|PMID:10848616|PMID:11113848|PMID:11443184|PMID:11549627|PMID:11738790|PMID:11748841|PMID:11788621|PMID:12519885|PMID:12629128|PMID:15841486|PMID:16459121|PMID:16684822|PMID:17164309|PMID:17504899|PMID:17576681|PMID:17587282|PMID:18339285|PMID:19672728|PMID:20573681|PMID:20685758|PMID:21408189|PMID:21739173|PMID:21925982|PMID:22761912|PMID:23018754|PMID:23384712|PMID:23512386|PMID:25741868|PMID:26467025|PMID:26500747|PMID:26980296|PMID:28492532|PMID:28546232|PMID:31263616|PMID:34193132|PMID:6891556|PMID:7609262|PMID:7990953|PMID:7990958|PMID:8636263|PMID:8855822|PMID:9003500|PMID:9063431|PMID:9195207|PMID:9360549|PMID:9415399|PMID:9536098 11884500 NR0B1 nuclear receptor subfamily 0 group B member 1 gene DOID:0111777 46,XY sex reversal 2 ISO RGD:1350844 D RGD:7240710 20180130 OMIM 11884500 NR0B1 nuclear receptor subfamily 0 group B member 1 gene DOID:0111777 46,XY sex reversal 2 ISO RGD:1350844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 2 PMID:9486644 11884500 NR0B1 nuclear receptor subfamily 0 group B member 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1350844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:12632325|PMID:19937601|PMID:22510846|PMID:23453023|PMID:24302611|PMID:24504883|PMID:28492532|PMID:31705731 11884500 NR0B1 nuclear receptor subfamily 0 group B member 1 gene DOID:12849 autistic disorder ISO RGD:1350844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11884500 NR0B1 nuclear receptor subfamily 0 group B member 1 gene DOID:14228 oligospermia ISO RGD:1350844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23384712 11884500 NR0B1 nuclear receptor subfamily 0 group B member 1 gene DOID:1924 hypogonadism ISO RGD:1350844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7990958 11884500 NR0B1 nuclear receptor subfamily 0 group B member 1 gene DOID:630 genetic disease ISO RGD:1350844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11884500 NR0B1 nuclear receptor subfamily 0 group B member 1 gene DOID:9003809 Isolated Mineralocorticoid Deficiency ISO RGD:1350844 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mineralocorticoid deficiency, isolated PMID:17164309|PMID:25741868 11884500 NR0B1 nuclear receptor subfamily 0 group B member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11884500 NR0B1 nuclear receptor subfamily 0 group B member 1 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1350844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 11884507 ZSCAN21 zinc finger and SCAN domain containing 21 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11884507 ZSCAN21 zinc finger and SCAN domain containing 21 gene DOID:630 genetic disease ISO RGD:1320617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11884553 RBM25 RNA binding motif protein 25 gene DOID:1059 intellectual disability ISO RGD:1318710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11884553 RBM25 RNA binding motif protein 25 gene DOID:630 genetic disease ISO RGD:1318710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11884585 METTL21A methyltransferase 21A, HSPA lysine gene DOID:14557 primary pulmonary hypertension ISO RGD:1602980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11884585 METTL21A methyltransferase 21A, HSPA lysine gene DOID:630 genetic disease ISO RGD:1602980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11884585 METTL21A methyltransferase 21A, HSPA lysine gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11884618 LYPD5 LY6/PLAUR domain containing 5 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1604488 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 11884618 LYPD5 LY6/PLAUR domain containing 5 gene DOID:5419 schizophrenia ISO RGD:1604488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11884618 LYPD5 LY6/PLAUR domain containing 5 gene DOID:630 genetic disease ISO RGD:1604488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11884650 CNOT10 CCR4-NOT transcription complex subunit 10 gene DOID:630 genetic disease ISO RGD:1343563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11884677 FZD9 frizzled class receptor 9 gene DOID:0060041 autism spectrum disorder ISO RGD:734067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 11884677 FZD9 frizzled class receptor 9 gene DOID:10923 sickle cell anemia ISO RGD:734067 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 11884677 FZD9 frizzled class receptor 9 gene DOID:12849 autistic disorder ISO RGD:734067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11884677 FZD9 frizzled class receptor 9 gene DOID:1928 Williams-Beuren syndrome ISO RGD:734067 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 11884677 FZD9 frizzled class receptor 9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:734067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11884677 FZD9 frizzled class receptor 9 gene DOID:5419 schizophrenia ISO RGD:734067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11884677 FZD9 frizzled class receptor 9 gene DOID:630 genetic disease ISO RGD:734067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11884677 FZD9 frizzled class receptor 9 gene DOID:8445 intestinal volvulus ISO RGD:734067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11884677 FZD9 frizzled class receptor 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11884677 FZD9 frizzled class receptor 9 gene DOID:9008419 Volvulus Of Midgut ISO RGD:734067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11884682 FAM217B family with sequence similarity 217 member B gene DOID:630 genetic disease ISO RGD:1323673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11884697 BEND4 BEN domain containing 4 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605502 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:28722770 11884697 BEND4 BEN domain containing 4 gene DOID:630 genetic disease ISO RGD:1605502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11884697 BEND4 BEN domain containing 4 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1605502 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:35221871 11884751 C3H3orf84 chromosome 3 C3orf84 homolog gene DOID:0060852 Pierson syndrome ISO RGD:7254257 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 11884751 C3H3orf84 chromosome 3 C3orf84 homolog gene DOID:630 genetic disease ISO RGD:7254257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11884751 C3H3orf84 chromosome 3 C3orf84 homolog gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:7254257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11884758 GPR82 G protein-coupled receptor 82 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11884758 GPR82 G protein-coupled receptor 82 gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1354119 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 11884758 GPR82 G protein-coupled receptor 82 gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1354119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:19165920|PMID:20029458|PMID:21735175|PMID:21954287|PMID:22452838|PMID:22709267|PMID:23901204|PMID:28492532 11884758 GPR82 G protein-coupled receptor 82 gene DOID:10283 prostate cancer ISO RGD:1354119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11884758 GPR82 G protein-coupled receptor 82 gene DOID:12849 autistic disorder ISO RGD:1354119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11884758 GPR82 G protein-coupled receptor 82 gene DOID:630 genetic disease ISO RGD:1354119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11884758 GPR82 G protein-coupled receptor 82 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11884761 NRXN3 neurexin 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1353595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11884761 NRXN3 neurexin 3 gene DOID:12849 autistic disorder ISO RGD:1353595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 11884761 NRXN3 neurexin 3 gene DOID:14261 fragile X syndrome ISO RGD:1553035 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus,somatosendory cortex PMID:26235839|REF_RGD_ID:11554325 11884761 NRXN3 neurexin 3 gene DOID:303 substance-related disorder ISO RGD:1353595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11884761 NRXN3 neurexin 3 gene DOID:630 genetic disease ISO RGD:1353595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11884761 NRXN3 neurexin 3 gene DOID:9007661 Dwarfism ISO RGD:1353595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11884817 TUSC1 tumor suppressor candidate 1 gene DOID:630 genetic disease ISO RGD:1606109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11884822 RBPJ recombination signal binding protein for immunoglobulin kappa J region gene DOID:0060227 Adams-Oliver syndrome ISO RGD:1321529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11884822 RBPJ recombination signal binding protein for immunoglobulin kappa J region gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1321529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:29924900 11884822 RBPJ recombination signal binding protein for immunoglobulin kappa J region gene DOID:12930 dilated cardiomyopathy ISO RGD:1321529 D RGD:9068941 20200609 RGD PMID:10600520|REF_RGD_ID:1581297 11884822 RBPJ recombination signal binding protein for immunoglobulin kappa J region gene DOID:2377 multiple sclerosis ISO RGD:1321529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25853421 11884822 RBPJ recombination signal binding protein for immunoglobulin kappa J region gene DOID:289 endometriosis ISO RGD:1321529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 11884822 RBPJ recombination signal binding protein for immunoglobulin kappa J region gene DOID:5419 schizophrenia ISO RGD:1321529 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11884822 RBPJ recombination signal binding protein for immunoglobulin kappa J region gene DOID:62 aortic valve disease ISO RGD:1321530 D RGD:9068941 20220825 MouseDO 11884822 RBPJ recombination signal binding protein for immunoglobulin kappa J region gene DOID:630 genetic disease ISO RGD:1321529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11884822 RBPJ recombination signal binding protein for immunoglobulin kappa J region gene DOID:7148 rheumatoid arthritis ISO RGD:1321529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 11884822 RBPJ recombination signal binding protein for immunoglobulin kappa J region gene DOID:9006275 Adams-Oliver Syndrome 3 ISO RGD:1321529 D RGD:7240710 20180130 OMIM 11884822 RBPJ recombination signal binding protein for immunoglobulin kappa J region gene DOID:9006275 Adams-Oliver Syndrome 3 ISO RGD:1321529 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 3 PMID:22883147|PMID:25741868|PMID:28492532|PMID:29924900 11884822 RBPJ recombination signal binding protein for immunoglobulin kappa J region gene DOID:9352 type 2 diabetes mellitus ISO RGD:1321529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:29924900 11884837 C17H17orf67 chromosome 17 C17orf67 homolog gene DOID:0050777 Joubert syndrome ISO RGD:1603500 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11884849 FAM219B family with sequence similarity 219 member B gene DOID:0080554 congenital disorder of glycosylation Ib ISO RGD:1321800 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Saguenay Lac Saint Jean syndrome 11884849 FAM219B family with sequence similarity 219 member B gene DOID:2717 Bloom syndrome ISO RGD:1321800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11884849 FAM219B family with sequence similarity 219 member B gene DOID:5419 schizophrenia ISO RGD:1321800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11884849 FAM219B family with sequence similarity 219 member B gene DOID:630 genetic disease ISO RGD:1321800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11884849 FAM219B family with sequence similarity 219 member B gene DOID:9256 colorectal cancer ISO RGD:1321800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11884873 SLC29A1 solute carrier family 29 member 1 (Augustine blood group) gene DOID:0050741 alcohol dependence ISO RGD:62192 D RGD:9068941 20220825 MouseDO OMIM:103780 11884873 SLC29A1 solute carrier family 29 member 1 (Augustine blood group) gene DOID:1098 fetal erythroblastosis ISO RGD:737565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal Erythroblastosis 11884873 SLC29A1 solute carrier family 29 member 1 (Augustine blood group) gene DOID:12858 Huntington's disease ISO RGD:737565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27567601 11884873 SLC29A1 solute carrier family 29 member 1 (Augustine blood group) gene DOID:1793 pancreatic cancer ISO RGD:737565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18728667 11884873 SLC29A1 solute carrier family 29 member 1 (Augustine blood group) gene DOID:2316 brain ischemia ISO RGD:61899 D RGD:9068941 20200609 RGD PMID:15829178|REF_RGD_ID:2316942 11884873 SLC29A1 solute carrier family 29 member 1 (Augustine blood group) gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:737565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 11884873 SLC29A1 solute carrier family 29 member 1 (Augustine blood group) gene DOID:630 genetic disease ISO RGD:737565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11884873 SLC29A1 solute carrier family 29 member 1 (Augustine blood group) gene DOID:6652 diffuse idiopathic skeletal hyperostosis ISO RGD:62192 D RGD:9068941 20220825 MouseDO OMIM:106400 11884873 SLC29A1 solute carrier family 29 member 1 (Augustine blood group) gene DOID:9004120 Alcohol Withdrawal Seizures ISO RGD:737565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21283641 11884873 SLC29A1 solute carrier family 29 member 1 (Augustine blood group) gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61899 D RGD:9068941 20200609 RGD mRNA:decreased expression:cardiac muscle cell PMID:16873415|REF_RGD_ID:2316941 11884873 SLC29A1 solute carrier family 29 member 1 (Augustine blood group) gene DOID:9006205 Animal Disease Models ISO RGD:737565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27567601 11884950 CHST14 carbohydrate sulfotransferase 14 gene DOID:0060041 autism spectrum disorder ISO RGD:1348543 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11884950 CHST14 carbohydrate sulfotransferase 14 gene DOID:0080736 Ehlers-Danlos syndrome musculocontractural type 1 ISO RGD:1348543 D RGD:7240710 20180130 OMIM 11884950 CHST14 carbohydrate sulfotransferase 14 gene DOID:0080736 Ehlers-Danlos syndrome musculocontractural type 1 ISO RGD:1348543 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, WITH PECULIAR FACIES AND HYDRONEPHROSIS | ClinVar Annotator: match by term: Adducted Thumb-Clubfoot Syndrome | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 1 PMID:10766984|PMID:11370633|PMID:1184396|PMID:12508273|PMID:16158441|PMID:20004762|PMID:20503305|PMID:20533528|PMID:20842734|PMID:21744491|PMID:2202212|PMID:22581468|PMID:25188385|PMID:25348902|PMID:25741868|PMID:26373698|PMID:26872206|PMID:26925854|PMID:28238810|PMID:28306225|PMID:28346368|PMID:28492532|PMID:31905796|PMID:32214361|PMID:32629534|PMID:9084938 11884950 CHST14 carbohydrate sulfotransferase 14 gene DOID:11836 clubfoot ISO RGD:1348543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20004762 11884950 CHST14 carbohydrate sulfotransferase 14 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1348543 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25188385|PMID:25741868|PMID:28492532|PMID:32214361 11884950 CHST14 carbohydrate sulfotransferase 14 gene DOID:2717 Bloom syndrome ISO RGD:1348543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11884950 CHST14 carbohydrate sulfotransferase 14 gene DOID:630 genetic disease ISO RGD:1348543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11884950 CHST14 carbohydrate sulfotransferase 14 gene DOID:9001553 Spinal Cord Compression exacerbates ISO RGD:1619123 D RGD:9068941 20221118 RGD PMID:26586562|REF_RGD_ID:155663489 11884950 CHST14 carbohydrate sulfotransferase 14 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 11884950 CHST14 carbohydrate sulfotransferase 14 gene DOID:9004014 Adducted Thumbs Syndrome ISO RGD:1348543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20004762 11884950 CHST14 carbohydrate sulfotransferase 14 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1348543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 11884950 CHST14 carbohydrate sulfotransferase 14 gene DOID:9005077 Joint Instability ISO RGD:1348543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20842734 11884950 CHST14 carbohydrate sulfotransferase 14 gene DOID:9005603 Muscle Hypotonia ISO RGD:1348543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20842734 11884950 CHST14 carbohydrate sulfotransferase 14 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1348543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20842734 11884950 CHST14 carbohydrate sulfotransferase 14 gene DOID:9256 colorectal cancer ISO RGD:1348543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11884955 AKNA AT-hook transcription factor gene DOID:630 genetic disease ISO RGD:1317844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11884981 RECQL RecQ like helicase gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:1322333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:28492532 11884981 RECQL RecQ like helicase gene DOID:1324 lung cancer ISO RGD:1322333 D RGD:9068941 20200609 RGD PMID:18422747|REF_RGD_ID:2317370 11884981 RECQL RecQ like helicase gene DOID:162 cancer ISO RGD:1322333 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cancer 11884981 RECQL RecQ like helicase gene DOID:1793 pancreatic cancer ISO RGD:1322333 D RGD:9068941 20200609 RGD PMID:18422747|REF_RGD_ID:2317370 11884981 RECQL RecQ like helicase gene DOID:1793 pancreatic cancer ISO RGD:1322333 D RGD:9068941 20200609 RGD DNA:SNP:3'utr:rs13035 (human) PMID:16540687|REF_RGD_ID:2317365 11884981 RECQL RecQ like helicase gene DOID:1793 pancreatic cancer ISO RGD:1322333 D RGD:9068941 20200609 RGD DNA:SNPs:introns PMID:19768149|REF_RGD_ID:2317369 11884981 RECQL RecQ like helicase gene DOID:1826 epilepsy ISO RGD:1322333 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:25915596|PMID:26467025|PMID:28492532|PMID:32546565 11884981 RECQL RecQ like helicase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1322333 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:25915596|PMID:25945795|PMID:26467025|PMID:27125668|PMID:28492532|PMID:32546565|PMID:32566746|PMID:33471991|PMID:33563768|PMID:33649982 11884981 RECQL RecQ like helicase gene DOID:630 genetic disease ISO RGD:1322333 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11884981 RECQL RecQ like helicase gene DOID:684 hepatocellular carcinoma ISO RGD:1322333 D RGD:9068941 20200609 RGD PMID:18422747|REF_RGD_ID:2317370 11884981 RECQL RecQ like helicase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1322333 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:18422747|REF_RGD_ID:2317370 11884981 RECQL RecQ like helicase gene DOID:687 hepatoblastoma ISO RGD:1322333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 11884981 RECQL RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322333 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:19768149|PMID:25741868|PMID:25915596|PMID:25945795|PMID:26467025|PMID:27125668|PMID:28492532|PMID:29341116|PMID:29351780|PMID:30224651|PMID:30613976|PMID:32566746|PMID:9536098 11884981 RECQL RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322333 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:19768149|PMID:23852950|PMID:25741868|PMID:25915596|PMID:25945795|PMID:26467025|PMID:27125668|PMID:27832498|PMID:28492532|PMID:28591191|PMID:28724667|PMID:29341116|PMID:29351780|PMID:29555771|PMID:29625052|PMID:30224651|PMID:30267214|PMID:30610487|PMID:30613976|PMID:31173646|PMID:31312277|PMID:31444271|PMID:31469826|PMID:31604778|PMID:31659152|PMID:32029870|PMID:32338768|PMID:32471518|PMID:32517021|PMID:32546565|PMID:32566746|PMID:33342430|PMID:33471991|PMID:33563768|PMID:33649982|PMID:9536098 11884981 RECQL RecQ like helicase gene DOID:9007661 Dwarfism ISO RGD:1322333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11884981 RECQL RecQ like helicase gene DOID:9008939 Breast Neoplasms ISO RGD:1322333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25915596 11884981 RECQL RecQ like helicase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1322333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:28492532 11885000 CCT8L2 chaperonin containing TCP1 subunit 8 like 2 gene DOID:630 genetic disease ISO RGD:1605278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11885000 CCT8L2 chaperonin containing TCP1 subunit 8 like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11885015 MIS12 MIS12 kinetochore complex component gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1346036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 11885015 MIS12 MIS12 kinetochore complex component gene DOID:630 genetic disease ISO RGD:1346036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11885015 MIS12 MIS12 kinetochore complex component gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11885033 AP1M2 adaptor related protein complex 1 subunit mu 2 gene DOID:630 genetic disease ISO RGD:1354372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11885058 TNF tumor necrosis factor gene DOID:0040084 Streptococcus pneumonia ISO RGD:11429 D RGD:9068941 20201117 RGD protein:increased expression:lung,natural killer cell (mouse) PMID:21887255|REF_RGD_ID:40818252 11885058 TNF tumor necrosis factor gene DOID:0050117 disease by infectious agent ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16513158 11885058 TNF tumor necrosis factor gene DOID:0050152 aspiration pneumonia ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:Bronchoalveolar Lavage Fluid PMID:18042282|REF_RGD_ID:4142854 11885058 TNF tumor necrosis factor gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:11429 D RGD:9068941 20220825 MouseDO OMIM:178500 11885058 TNF tumor necrosis factor gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1344192 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:8473757 11885058 TNF tumor necrosis factor gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:blister: PMID:9852250|REF_RGD_ID:7401184 11885058 TNF tumor necrosis factor gene DOID:0050452 mevalonic aciduria ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:7780142|REF_RGD_ID:9585642 11885058 TNF tumor necrosis factor gene DOID:0050475 Weill-Marchesani syndrome ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:15223607|REF_RGD_ID:9150949 11885058 TNF tumor necrosis factor gene DOID:0050553 JMP syndrome ISO RGD:1344192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11885058 TNF tumor necrosis factor gene DOID:0050589 inflammatory bowel disease ISO RGD:11429 D RGD:9068941 20220825 MouseDO 11885058 TNF tumor necrosis factor gene DOID:0050589 inflammatory bowel disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15086448|PMID:27793764 11885058 TNF tumor necrosis factor gene DOID:0050589 inflammatory bowel disease treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:12184521|REF_RGD_ID:10450573 11885058 TNF tumor necrosis factor gene DOID:0050642 hypochromic microcytic anemia ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid PMID:18205195|REF_RGD_ID:10450526 11885058 TNF tumor necrosis factor gene DOID:0050685 small cell carcinoma severity ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:decreased secretion:whole blood PMID:8624296|REF_RGD_ID:4142840 11885058 TNF tumor necrosis factor gene DOID:0050697 chorioamnionitis no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Premature Birth;DNA:SNP:promoter:c.-308 G>A (human) PMID:15128916|REF_RGD_ID:12904055 11885058 TNF tumor necrosis factor gene DOID:0050697 chorioamnionitis severity ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Premature Birth;DNA:SNP:promoter:c.-238G>A (human) PMID:15128916|REF_RGD_ID:12904055 11885058 TNF tumor necrosis factor gene DOID:0050700 cardiomyopathy ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10716473 11885058 TNF tumor necrosis factor gene DOID:0050700 cardiomyopathy treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24441175|REF_RGD_ID:10450596 11885058 TNF tumor necrosis factor gene DOID:0050848 obstructive sleep apnea ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:14633242|PMID:20846669|REF_RGD_ID:4142857|REF_RGD_ID:4143435 11885058 TNF tumor necrosis factor gene DOID:0050848 obstructive sleep apnea susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: c.-308G>A (human) PMID:19022640|REF_RGD_ID:4143442 11885058 TNF tumor necrosis factor gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:3876 D RGD:9068941 20220715 RGD associated with social isolation;protein:increased expression:tongue (rat) PMID:33411841|REF_RGD_ID:152998999 11885058 TNF tumor necrosis factor gene DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:24119107|REF_RGD_ID:10059681 11885058 TNF tumor necrosis factor gene DOID:0050908 myelodysplastic syndrome ISO RGD:1344192 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow PMID:10697556|REF_RGD_ID:10450881 11885058 TNF tumor necrosis factor gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15888251|REF_RGD_ID:10450530 11885058 TNF tumor necrosis factor gene DOID:0060180 colitis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23810507|PMID:24548422 11885058 TNF tumor necrosis factor gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 11885058 TNF tumor necrosis factor gene DOID:0060224 atrial fibrillation ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Heart Valve Diseases;protein:increased expression:right atrium: PMID:19169931|REF_RGD_ID:7401239 11885058 TNF tumor necrosis factor gene DOID:0060319 cardiac arrest ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9806674 11885058 TNF tumor necrosis factor gene DOID:0060319 cardiac arrest ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:18679114|REF_RGD_ID:4889454 11885058 TNF tumor necrosis factor gene DOID:0060496 respiratory allergy ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18394133 11885058 TNF tumor necrosis factor gene DOID:0060500 drug allergy ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11294926|PMID:20485159 11885058 TNF tumor necrosis factor gene DOID:0060643 primary sclerosing cholangitis ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9047083|REF_RGD_ID:14995307 11885058 TNF tumor necrosis factor gene DOID:0060903 thrombosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19691487 11885058 TNF tumor necrosis factor gene DOID:0070227 intrahepatic cholestasis of pregnancy ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23627780 11885058 TNF tumor necrosis factor gene DOID:0080158 herpes simplex virus keratitis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:12162877|REF_RGD_ID:8157603 11885058 TNF tumor necrosis factor gene DOID:0080158 herpes simplex virus keratitis ISO RGD:11429 D RGD:9068941 20200609 RGD mRNA:increased expression:cornea PMID:10624423|REF_RGD_ID:7401196 11885058 TNF tumor necrosis factor gene DOID:0080160 cytomegalovirus retinitis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:22072377|REF_RGD_ID:7394768 11885058 TNF tumor necrosis factor gene DOID:0080160 cytomegalovirus retinitis ISO RGD:11429 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:eye: PMID:17389501|REF_RGD_ID:7394808 11885058 TNF tumor necrosis factor gene DOID:0080162 lupus nephritis ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:glomerular mesangial cell PMID:7750940|REF_RGD_ID:7394786 11885058 TNF tumor necrosis factor gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1344192 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32613381 11885058 TNF tumor necrosis factor gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:serum, liver (rat) PMID:19034968|REF_RGD_ID:14995482 11885058 TNF tumor necrosis factor gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with morbid obesity PMID:25894568|REF_RGD_ID:14975151 11885058 TNF tumor necrosis factor gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:25219124|REF_RGD_ID:10450574 11885058 TNF tumor necrosis factor gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:11429 D RGD:9068941 20210702 RGD mRNA:increased expression:liver (mouse) PMID:28100771|REF_RGD_ID:127285675 11885058 TNF tumor necrosis factor gene DOID:0080547 non-alcoholic steatohepatitis susceptibility ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:20606728|REF_RGD_ID:21076282 11885058 TNF tumor necrosis factor gene DOID:0080599 Coronavirus infectious disease ISO RGD:11429 D RGD:9068941 20200618 RGD PMID:19906920|REF_RGD_ID:4891446 11885058 TNF tumor necrosis factor gene DOID:0080600 COVID-19 ISO RGD:1344192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease (COVID-19) PMID:10450718|PMID:11261930|PMID:11506397|PMID:11826025|PMID:11896460|PMID:12485196|PMID:12746914|PMID:12759288|PMID:14681301|PMID:14718719|PMID:16418737|PMID:16720636|PMID:16865291|PMID:16909270|PMID:18050183|PMID:18713756|PMID:19365401|PMID:22760475|PMID:22992668|PMID:8056188|PMID:9818939 11885058 TNF tumor necrosis factor gene DOID:0080600 COVID-19 disease_progression ISO RGD:1344192 D RGD:9068941 20200618 RGD associated with diabetes mellitus PMID:32345579|REF_RGD_ID:30296681 11885058 TNF tumor necrosis factor gene DOID:0080600 COVID-19 severity ISO RGD:1344192 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 11885058 TNF tumor necrosis factor gene DOID:0080600 COVID-19 severity ISO RGD:1344192 D RGD:9068941 20200625 RGD protein:increased expression:serum (human) PMID:32365221|PMID:32427582|REF_RGD_ID:30309200|REF_RGD_ID:30310229 11885058 TNF tumor necrosis factor gene DOID:0080642 Middle East respiratory syndrome ISO RGD:11429 D RGD:9068941 20200625 RGD protein:increased expression:serum: PMID:30634407|REF_RGD_ID:30309958 11885058 TNF tumor necrosis factor gene DOID:0080745 polymyositis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 11885058 TNF tumor necrosis factor gene DOID:0080750 erythema nodosum susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Inflammatory Bowel Diseases;DNA:polymorphisms: :-1031T>C(human) PMID:12198697|REF_RGD_ID:7364926 11885058 TNF tumor necrosis factor gene DOID:0080820 occupational asthma ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25721048 11885058 TNF tumor necrosis factor gene DOID:0080855 Parkinsonism treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:21831964|PMID:28338241|REF_RGD_ID:13503338|REF_RGD_ID:7247422 11885058 TNF tumor necrosis factor gene DOID:0081120 Graves ophthalmopathy ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:8444271|REF_RGD_ID:7794734 11885058 TNF tumor necrosis factor gene DOID:0081120 Graves ophthalmopathy ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-863C>A (human) PMID:16191343|REF_RGD_ID:12904066 11885058 TNF tumor necrosis factor gene DOID:0081120 Graves ophthalmopathy susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-238G>A (rs361525) (human) PMID:15219383|REF_RGD_ID:7365073 11885058 TNF tumor necrosis factor gene DOID:0081292 traumatic brain injury ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28642177 11885058 TNF tumor necrosis factor gene DOID:0110429 dilated cardiomyopathy 1H severity ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:14676433|REF_RGD_ID:7401234 11885058 TNF tumor necrosis factor gene DOID:10003 sensorineural hearing loss ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:16988499|PMID:23165380|REF_RGD_ID:7387303|REF_RGD_ID:7394704 11885058 TNF tumor necrosis factor gene DOID:10003 sensorineural hearing loss ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Hearing Loss, Sensorineural;protein:increased expression:serum: PMID:19684145|REF_RGD_ID:8142347 11885058 TNF tumor necrosis factor gene DOID:10140 dry eye syndrome treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:23211823|REF_RGD_ID:8694422 11885058 TNF tumor necrosis factor gene DOID:10223 dermatomyositis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19035492 11885058 TNF tumor necrosis factor gene DOID:1024 leprosy susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:−308G>A (human) PMID:20650301|REF_RGD_ID:8694069 11885058 TNF tumor necrosis factor gene DOID:10241 thalassemia ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11732868|REF_RGD_ID:10450569 11885058 TNF tumor necrosis factor gene DOID:10247 pleurisy ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:11161459|REF_RGD_ID:4143474 11885058 TNF tumor necrosis factor gene DOID:10247 pleurisy ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181422|PMID:15380531 11885058 TNF tumor necrosis factor gene DOID:10247 pleurisy ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:20141620|REF_RGD_ID:4142808 11885058 TNF tumor necrosis factor gene DOID:10283 prostate cancer ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:19851870|REF_RGD_ID:2315114 11885058 TNF tumor necrosis factor gene DOID:10320 asbestosis ISO RGD:1344192 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:20486865|PMID:8473757 11885058 TNF tumor necrosis factor gene DOID:10322 berylliosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12449171|PMID:15127972|PMID:16980557|PMID:8428540 11885058 TNF tumor necrosis factor gene DOID:10325 silicosis ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:11264025|REF_RGD_ID:4142816 11885058 TNF tumor necrosis factor gene DOID:10325 silicosis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:25199287|REF_RGD_ID:10450591 11885058 TNF tumor necrosis factor gene DOID:10327 anthracosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20005085 11885058 TNF tumor necrosis factor gene DOID:10533 viral pneumonia treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:25219125|REF_RGD_ID:10450576 11885058 TNF tumor necrosis factor gene DOID:10591 pre-eclampsia ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:15901845|REF_RGD_ID:1580314 11885058 TNF tumor necrosis factor gene DOID:10591 pre-eclampsia ameliorates ISO RGD:3876 D RGD:9068941 20230323 RGD PMID:31203154|REF_RGD_ID:213230155 11885058 TNF tumor necrosis factor gene DOID:10652 Alzheimer's disease ISO RGD:1344192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease, protection against PMID:10400991|PMID:16908746 11885058 TNF tumor necrosis factor gene DOID:10652 Alzheimer's disease no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-308G>A(human) PMID:15468911|REF_RGD_ID:13825256 11885058 TNF tumor necrosis factor gene DOID:10652 Alzheimer's disease no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:multiple(human) PMID:18834925|REF_RGD_ID:13825257 11885058 TNF tumor necrosis factor gene DOID:10652 Alzheimer's disease onset ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-308G>A(human) PMID:16516271|REF_RGD_ID:13825253 11885058 TNF tumor necrosis factor gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-308G>A(human) PMID:18992723|REF_RGD_ID:13825248 11885058 TNF tumor necrosis factor gene DOID:1067 open-angle glaucoma susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP: :-308G>A(rs1800629)(human) PMID:20357201|REF_RGD_ID:7387247 11885058 TNF tumor necrosis factor gene DOID:1070 primary open angle glaucoma ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:promoter:-857C>T, -863C>A (human) PMID:15557444|REF_RGD_ID:7775041 11885058 TNF tumor necrosis factor gene DOID:1073 renal hypertension ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22188107|REF_RGD_ID:6907405 11885058 TNF tumor necrosis factor gene DOID:10754 otitis media ISO RGD:11429 D RGD:9068941 20200609 RGD protein:increased expression:ear: PMID:21818352|REF_RGD_ID:7394703 11885058 TNF tumor necrosis factor gene DOID:10754 otitis media ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:22173336|REF_RGD_ID:7401215 11885058 TNF tumor necrosis factor gene DOID:10754 otitis media ISO RGD:3876 D RGD:9068941 20200609 RGD associated with Haemophilus Infections; mRNA, protein:increased expression:middle ear PMID:18524391|REF_RGD_ID:4891398 11885058 TNF tumor necrosis factor gene DOID:10754 otitis media ISO RGD:8789275 D RGD:9068941 20200609 RGD PMID:10085040|REF_RGD_ID:11553900 11885058 TNF tumor necrosis factor gene DOID:10762 portal hypertension ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach (rat) PMID:9198288|PMID:9834372|REF_RGD_ID:14688051|REF_RGD_ID:14995426 11885058 TNF tumor necrosis factor gene DOID:10762 portal hypertension treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:10070045|PMID:7875478|PMID:9537427|REF_RGD_ID:14975128|REF_RGD_ID:14985259|REF_RGD_ID:14995425 11885058 TNF tumor necrosis factor gene DOID:10763 hypertension ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:16202847|REF_RGD_ID:1580312 11885058 TNF tumor necrosis factor gene DOID:10763 hypertension ISO RGD:1344192 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:18605955|PMID:27292124|PMID:27659729|PMID:27847271|PMID:32147540 11885058 TNF tumor necrosis factor gene DOID:10763 hypertension ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:9590569|REF_RGD_ID:1357163 11885058 TNF tumor necrosis factor gene DOID:10763 hypertension treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:16415373|REF_RGD_ID:1580207 11885058 TNF tumor necrosis factor gene DOID:10808 gastric ulcer ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15138204 11885058 TNF tumor necrosis factor gene DOID:10825 essential hypertension ISO RGD:1344192 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 11885058 TNF tumor necrosis factor gene DOID:10923 sickle cell anemia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14965870 11885058 TNF tumor necrosis factor gene DOID:10923 sickle cell anemia ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:8140855|REF_RGD_ID:10449460 11885058 TNF tumor necrosis factor gene DOID:10941 intracranial aneurysm treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24628611|REF_RGD_ID:10450592 11885058 TNF tumor necrosis factor gene DOID:10964 cholesteatoma of middle ear ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Otitis Media;protein:increased expression:ear: PMID:21311206|REF_RGD_ID:7364848 11885058 TNF tumor necrosis factor gene DOID:11054 urinary bladder cancer ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1674182 11885058 TNF tumor necrosis factor gene DOID:1115 sarcoma ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15675481|PMID:16767912|PMID:17203757|PMID:9794839 11885058 TNF tumor necrosis factor gene DOID:11168 anogenital venereal wart ISO RGD:1344192 D RGD:9068941 20201105 RGD protein:increased expression:peripheral blood mononuclear cells (human) PMID:23754510|REF_RGD_ID:40400714 11885058 TNF tumor necrosis factor gene DOID:1123 spondyloarthropathy ISO RGD:11429 D RGD:9068941 20220825 MouseDO OMIM:106300 11885058 TNF tumor necrosis factor gene DOID:11247 disseminated intravascular coagulation severity ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Hemorrhagic Fever, Crimean PMID:16518755|REF_RGD_ID:10450536 11885058 TNF tumor necrosis factor gene DOID:11263 chlamydia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19203382 11885058 TNF tumor necrosis factor gene DOID:11265 trachoma ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP, haplotypes:promoter:−308G>A (human) PMID:17330135|REF_RGD_ID:8548830 11885058 TNF tumor necrosis factor gene DOID:11372 megacolon ISO RGD:1344192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11885058 TNF tumor necrosis factor gene DOID:11394 adult respiratory distress syndrome ISO RGD:1344192 D RGD:9068941 20200609 RGD associated lung injury; DNA:polymorphism:promoter: PMID:16135717|REF_RGD_ID:4143247 11885058 TNF tumor necrosis factor gene DOID:11394 adult respiratory distress syndrome ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21062445|REF_RGD_ID:5128683 11885058 TNF tumor necrosis factor gene DOID:11396 pulmonary edema ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:Bronchoalveolar Lavage Fluid PMID:9628235|REF_RGD_ID:4142833 11885058 TNF tumor necrosis factor gene DOID:11396 pulmonary edema ISO RGD:1344192 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21188088|PMID:34390737 11885058 TNF tumor necrosis factor gene DOID:11446 sciatic neuropathy treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:22173123|REF_RGD_ID:7364836 11885058 TNF tumor necrosis factor gene DOID:11573 listeriosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16751399 11885058 TNF tumor necrosis factor gene DOID:11650 bronchopulmonary dysplasia no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (human) PMID:15286263|REF_RGD_ID:12904049 11885058 TNF tumor necrosis factor gene DOID:11650 bronchopulmonary dysplasia severity ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-238A>G (human) PMID:15286263|REF_RGD_ID:12904049 11885058 TNF tumor necrosis factor gene DOID:11656 cicatricial pemphigoid ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:Conjunctiva: PMID:7750940|REF_RGD_ID:7394786 11885058 TNF tumor necrosis factor gene DOID:11713 diabetic angiopathy susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:c.-308G>A (human) PMID:18575614|REF_RGD_ID:2313255 11885058 TNF tumor necrosis factor gene DOID:11758 iron deficiency anemia ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs1800629 (human) PMID:18716131|REF_RGD_ID:10450563 11885058 TNF tumor necrosis factor gene DOID:11823 hepatorenal syndrome ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18093430|REF_RGD_ID:4144102 11885058 TNF tumor necrosis factor gene DOID:11832 visual epilepsy ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:23333565|REF_RGD_ID:7245573 11885058 TNF tumor necrosis factor gene DOID:11832 visual epilepsy ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:23333565|REF_RGD_ID:7245573 11885058 TNF tumor necrosis factor gene DOID:11963 esophagitis susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with carcinoma, non-small-cell lung: DNA:SNPs: :rs1799724(human) PMID:20811626|REF_RGD_ID:5131286 11885058 TNF tumor necrosis factor gene DOID:1205 allergic disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16095146|PMID:21625544 11885058 TNF tumor necrosis factor gene DOID:12098 trigeminal neuralgia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 11885058 TNF tumor necrosis factor gene DOID:12236 primary biliary cholangitis ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9047083|REF_RGD_ID:14995307 11885058 TNF tumor necrosis factor gene DOID:12236 primary biliary cholangitis ISO RGD:1344192 D RGD:9068941 20200820 RGD mRNA:increased expression:liver PMID:17158635|REF_RGD_ID:38501106 11885058 TNF tumor necrosis factor gene DOID:12241 beta thalassemia ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphisms:3' utr PMID:19103526|REF_RGD_ID:10449458 11885058 TNF tumor necrosis factor gene DOID:1227 neutropenia ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:15986200|REF_RGD_ID:1580321 11885058 TNF tumor necrosis factor gene DOID:12297 Vogt-Koyanagi-Harada disease ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with uveitis;protein:increased expression:aqueous humor: PMID:21334264|REF_RGD_ID:8142356 11885058 TNF tumor necrosis factor gene DOID:12306 vitiligo ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28836394 11885058 TNF tumor necrosis factor gene DOID:12306 vitiligo ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:16911396|REF_RGD_ID:7794736 11885058 TNF tumor necrosis factor gene DOID:12351 alcoholic hepatitis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12586603 11885058 TNF tumor necrosis factor gene DOID:12351 alcoholic hepatitis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 11885058 TNF tumor necrosis factor gene DOID:12361 Graves' disease susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP: :-308G>A(rs1800629)(human) PMID:15219383|REF_RGD_ID:7365073 11885058 TNF tumor necrosis factor gene DOID:12361 Graves' disease susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNPs: :-238G>A(rs361525),419G>A(rs3093661)(human) PMID:19732761|REF_RGD_ID:7394807 11885058 TNF tumor necrosis factor gene DOID:12361 Graves' disease susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism: :-863A>C PMID:17348243|REF_RGD_ID:7394790 11885058 TNF tumor necrosis factor gene DOID:12365 malaria ISO RGD:1344192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malaria, cerebral, susceptibility to PMID:10369255|PMID:10450718|PMID:11261930|PMID:11506397|PMID:11826025|PMID:11896460|PMID:12485196|PMID:12746914|PMID:12759288|PMID:14681301|PMID:14718719|PMID:16418737|PMID:16720636|PMID:16865291|PMID:16909270|PMID:18050183|PMID:18713756|PMID:19365401|PMID:22760475|PMID:22992668|PMID:8056188|PMID:9818939 11885058 TNF tumor necrosis factor gene DOID:12365 malaria susceptibility ISO RGD:1344192 D RGD:7240710 20190502 OMIM 11885058 TNF tumor necrosis factor gene DOID:12449 aplastic anemia ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (human) PMID:12941546|REF_RGD_ID:10449452 11885058 TNF tumor necrosis factor gene DOID:12549 hepatitis A ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9047083|REF_RGD_ID:14995307 11885058 TNF tumor necrosis factor gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15384034 11885058 TNF tumor necrosis factor gene DOID:12662 paracoccidioidomycosis susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:−308G>A(human) PMID:17145373|REF_RGD_ID:7401182 11885058 TNF tumor necrosis factor gene DOID:12678 hypercalcemia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10638776 11885058 TNF tumor necrosis factor gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:decreased expression:blood, lymphocyte PMID:16611101|REF_RGD_ID:10450733 11885058 TNF tumor necrosis factor gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:11429 D RGD:9068941 20200609 RGD protein:increased expression:Bronchoalveolar lavage fluid PMID:15791294|REF_RGD_ID:4145715 11885058 TNF tumor necrosis factor gene DOID:12732 intermediate uveitis ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNPs: :rs361525,rs1800629(human) PMID:23378732|REF_RGD_ID:7365041 11885058 TNF tumor necrosis factor gene DOID:12783 migraine without aura ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:14718719|REF_RGD_ID:1580316 11885058 TNF tumor necrosis factor gene DOID:12800 mucopolysaccharidosis VI treatment ISO RGD:3876 D RGD:9068941 20210514 RGD PMID:21887218|REF_RGD_ID:39131283 11885058 TNF tumor necrosis factor gene DOID:12849 autistic disorder treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:26418275|REF_RGD_ID:12792236 11885058 TNF tumor necrosis factor gene DOID:12894 Sjogren's syndrome ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism: :-1031T>C(human) PMID:22703762|REF_RGD_ID:7394766 11885058 TNF tumor necrosis factor gene DOID:12894 Sjogren's syndrome treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24941846|REF_RGD_ID:10450595 11885058 TNF tumor necrosis factor gene DOID:12895 keratoconjunctivitis sicca ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Sjogren's Syndrome;mRNA:increased expression:conjunctiva: PMID:10487957|REF_RGD_ID:7829756 11885058 TNF tumor necrosis factor gene DOID:12930 dilated cardiomyopathy ISO RGD:11429 D RGD:9068941 20220825 MouseDO 11885058 TNF tumor necrosis factor gene DOID:12930 dilated cardiomyopathy ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:14984724|REF_RGD_ID:7401238 11885058 TNF tumor necrosis factor gene DOID:13088 periventricular leukomalacia ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:8652010|REF_RGD_ID:12904655 11885058 TNF tumor necrosis factor gene DOID:13088 periventricular leukomalacia ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:15765524|REF_RGD_ID:1580604 11885058 TNF tumor necrosis factor gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:11429 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21221075|REF_RGD_ID:7245511 11885058 TNF tumor necrosis factor gene DOID:13141 uveitis ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:1318867|PMID:20673052|REF_RGD_ID:7394761|REF_RGD_ID:7401178 11885058 TNF tumor necrosis factor gene DOID:13141 uveitis ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Behcet Syndrome; protein:increased expression:serum: PMID:15209464|REF_RGD_ID:7387294 11885058 TNF tumor necrosis factor gene DOID:13141 uveitis ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:8125721|REF_RGD_ID:7401166 11885058 TNF tumor necrosis factor gene DOID:13141 uveitis disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum,Aqueous Humor: PMID:11586057|REF_RGD_ID:7394806 11885058 TNF tumor necrosis factor gene DOID:13141 uveitis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:19440225|REF_RGD_ID:13825264 11885058 TNF tumor necrosis factor gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:8699818|REF_RGD_ID:7794730 11885058 TNF tumor necrosis factor gene DOID:13241 Behcet's disease ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:20601837|REF_RGD_ID:7394759 11885058 TNF tumor necrosis factor gene DOID:13241 Behcet's disease ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter PMID:12632436|REF_RGD_ID:12904036 11885058 TNF tumor necrosis factor gene DOID:13241 Behcet's disease ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Uveitis;protein:increased expression:aqueous humor: PMID:21334264|REF_RGD_ID:8142356 11885058 TNF tumor necrosis factor gene DOID:13241 Behcet's disease ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14600787|REF_RGD_ID:7401213 11885058 TNF tumor necrosis factor gene DOID:13241 Behcet's disease no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (human) PMID:12770792|REF_RGD_ID:12904048 11885058 TNF tumor necrosis factor gene DOID:13241 Behcet's disease no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-308G>A, -238G>A, -376G>A (human) PMID:15875188|REF_RGD_ID:12904040 11885058 TNF tumor necrosis factor gene DOID:13258 typhoid fever susceptibility ISO RGD:1344192 D RGD:9068941 20200716 RGD DNA:SNP:promoter:-308G>A (rs1800629) (human) PMID:11120931|REF_RGD_ID:36049756 11885058 TNF tumor necrosis factor gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20416219|REF_RGD_ID:4145765 11885058 TNF tumor necrosis factor gene DOID:13378 Kawasaki disease ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:14703611|PMID:8777922|REF_RGD_ID:1580318|REF_RGD_ID:7401221 11885058 TNF tumor necrosis factor gene DOID:13378 Kawasaki disease susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP: :-308G>A (human) PMID:18710885|REF_RGD_ID:9495921 11885058 TNF tumor necrosis factor gene DOID:13378 Kawasaki disease treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:14744383|REF_RGD_ID:7401183 11885058 TNF tumor necrosis factor gene DOID:13406 pulmonary sarcoidosis ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:15653992|REF_RGD_ID:4143466 11885058 TNF tumor necrosis factor gene DOID:13406 pulmonary sarcoidosis ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:20070603|REF_RGD_ID:4143236 11885058 TNF tumor necrosis factor gene DOID:13413 hepatic encephalopathy ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16338762|PMID:9696492 11885058 TNF tumor necrosis factor gene DOID:13452 scleritis ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:23177360|REF_RGD_ID:7394776 11885058 TNF tumor necrosis factor gene DOID:13544 low tension glaucoma ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype:promoter: -863C>A (human) PMID:15557444|REF_RGD_ID:7775041 11885058 TNF tumor necrosis factor gene DOID:13580 cholestasis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20626112 11885058 TNF tumor necrosis factor gene DOID:13619 extrahepatic cholestasis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 11885058 TNF tumor necrosis factor gene DOID:13636 Fanconi anemia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22628295 11885058 TNF tumor necrosis factor gene DOID:13636 Fanconi anemia ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:24021704|PMID:8438880|REF_RGD_ID:10450524|REF_RGD_ID:11049161 11885058 TNF tumor necrosis factor gene DOID:13677 SAPHO syndrome ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27108452 11885058 TNF tumor necrosis factor gene DOID:13949 interstitial cystitis treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:16622179|REF_RGD_ID:7245525 11885058 TNF tumor necrosis factor gene DOID:13976 peptic esophagitis ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:15942680|REF_RGD_ID:1580209 11885058 TNF tumor necrosis factor gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 11885058 TNF tumor necrosis factor gene DOID:14067 Plasmodium falciparum malaria severity ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:1984482|REF_RGD_ID:10450571 11885058 TNF tumor necrosis factor gene DOID:1407 anterior uveitis ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:promoter:-857 C>T (human) PMID:15851552|REF_RGD_ID:8548818 11885058 TNF tumor necrosis factor gene DOID:14115 toxic shock syndrome ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20054000 11885058 TNF tumor necrosis factor gene DOID:14115 toxic shock syndrome ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:peritoneal macrophage, cell surface (rat) PMID:12622907|REF_RGD_ID:1598936 11885058 TNF tumor necrosis factor gene DOID:14115 toxic shock syndrome treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:2213560|REF_RGD_ID:10449465 11885058 TNF tumor necrosis factor gene DOID:14330 Parkinson's disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21318773 11885058 TNF tumor necrosis factor gene DOID:14453 farmer's lung ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:11179110|REF_RGD_ID:4143374 11885058 TNF tumor necrosis factor gene DOID:14453 farmer's lung ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased secretion:macrophage PMID:8466130|REF_RGD_ID:4143375 11885058 TNF tumor necrosis factor gene DOID:14550 root resorption ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:22372265|REF_RGD_ID:13825431 11885058 TNF tumor necrosis factor gene DOID:1468 labyrinthitis ISO RGD:11429 D RGD:9068941 20200609 RGD protein:increased expression: cochleas, endolymphatic sac: PMID:12943369|REF_RGD_ID:7394706 11885058 TNF tumor necrosis factor gene DOID:1485 cystic fibrosis ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:7537567|REF_RGD_ID:4142846 11885058 TNF tumor necrosis factor gene DOID:1485 cystic fibrosis severity ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype:promoter:−308G>A (rs1800629) (human) PMID:21993476|REF_RGD_ID:6767553 11885058 TNF tumor necrosis factor gene DOID:1555 urticaria ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12121561|PMID:19250144|PMID:20485159 11885058 TNF tumor necrosis factor gene DOID:1579 respiratory system disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22414385 11885058 TNF tumor necrosis factor gene DOID:1588 thrombocytopenia ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Hemorrhagic Fever with Renal Syndrome;DNA:SNP:promoter:-238G>A (human) PMID:16987073|REF_RGD_ID:10449459 11885058 TNF tumor necrosis factor gene DOID:1588 thrombocytopenia severity ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Malaria, Vivax PMID:25128199|REF_RGD_ID:11041893 11885058 TNF tumor necrosis factor gene DOID:1612 breast cancer ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19967414|REF_RGD_ID:2315111 11885058 TNF tumor necrosis factor gene DOID:1612 breast cancer no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:17216494|REF_RGD_ID:8548779 11885058 TNF tumor necrosis factor gene DOID:1612 breast cancer no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:multiple PMID:11841482|REF_RGD_ID:8548791 11885058 TNF tumor necrosis factor gene DOID:1612 breast cancer susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP: :rs361525 (human) PMID:17216494|REF_RGD_ID:8548779 11885058 TNF tumor necrosis factor gene DOID:1612 breast cancer susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype:promoter:-308G>A (human) PMID:18409070|REF_RGD_ID:8548786 11885058 TNF tumor necrosis factor gene DOID:1679 cystitis ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:11948286|REF_RGD_ID:6907118 11885058 TNF tumor necrosis factor gene DOID:1686 glaucoma ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:17151265|REF_RGD_ID:7394785 11885058 TNF tumor necrosis factor gene DOID:1686 glaucoma ISO RGD:11429 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:20574020|REF_RGD_ID:7394760 11885058 TNF tumor necrosis factor gene DOID:1686 glaucoma ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:22802951|REF_RGD_ID:7394770 11885058 TNF tumor necrosis factor gene DOID:1686 glaucoma ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:20574020|REF_RGD_ID:7394760 11885058 TNF tumor necrosis factor gene DOID:1712 aortic valve stenosis ISO RGD:11429 D RGD:9068941 20220825 MouseDO OMIM:109730 | OMIM:614823 11885058 TNF tumor necrosis factor gene DOID:178 vascular disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14965870 11885058 TNF tumor necrosis factor gene DOID:1793 pancreatic cancer ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16211219 11885058 TNF tumor necrosis factor gene DOID:182 calcinosis ISO RGD:1344192 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:30963258 11885058 TNF tumor necrosis factor gene DOID:1824 status epilepticus ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18455351 11885058 TNF tumor necrosis factor gene DOID:1824 status epilepticus ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:20649973|REF_RGD_ID:4143383 11885058 TNF tumor necrosis factor gene DOID:1826 epilepsy ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:brain,plasma PMID:28303499|REF_RGD_ID:13524859 11885058 TNF tumor necrosis factor gene DOID:1875 impotence treatment ISO RGD:3876 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:24467772|REF_RGD_ID:9495931 11885058 TNF tumor necrosis factor gene DOID:1909 melanoma ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10379864|PMID:18388930|PMID:9794839|PMID:9843018 11885058 TNF tumor necrosis factor gene DOID:1926 Gaucher's disease severity ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (human) PMID:15919211|REF_RGD_ID:12904037 11885058 TNF tumor necrosis factor gene DOID:1936 atherosclerosis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:15823270|REF_RGD_ID:7401235 11885058 TNF tumor necrosis factor gene DOID:1936 atherosclerosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20720404 11885058 TNF tumor necrosis factor gene DOID:1936 atherosclerosis ameliorates ISO RGD:11429 D RGD:9068941 20230330 RGD PMID:35854140|REF_RGD_ID:242905195 11885058 TNF tumor necrosis factor gene DOID:2018 hyperinsulinism ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 11885058 TNF tumor necrosis factor gene DOID:2030 anxiety disorder ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20194079 11885058 TNF tumor necrosis factor gene DOID:2043 hepatitis B no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (rs1800629) (human) PMID:27644568|REF_RGD_ID:14975150 11885058 TNF tumor necrosis factor gene DOID:2043 hepatitis B severity ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-863C>A, -308A>G (human) PMID:12915457|REF_RGD_ID:14995438 11885058 TNF tumor necrosis factor gene DOID:2043 hepatitis B treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-857C>T (rs1799724) (human) PMID:27644568|REF_RGD_ID:14975150 11885058 TNF tumor necrosis factor gene DOID:2048 autoimmune hepatitis ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9047083|REF_RGD_ID:14995307 11885058 TNF tumor necrosis factor gene DOID:224 transient cerebral ischemia ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum,hippocampus: PMID:11412877|REF_RGD_ID:13825263 11885058 TNF tumor necrosis factor gene DOID:224 transient cerebral ischemia treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24053818|REF_RGD_ID:7364868 11885058 TNF tumor necrosis factor gene DOID:2280 hidradenitis suppurativa ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotype:promoter:-238G>A(human) PMID:23106544|REF_RGD_ID:7777155 11885058 TNF tumor necrosis factor gene DOID:2316 brain ischemia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15756928 11885058 TNF tumor necrosis factor gene DOID:2352 hemochromatosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16793930 11885058 TNF tumor necrosis factor gene DOID:2352 hemochromatosis ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-238G>A (rs361525) (human) PMID:11389006|REF_RGD_ID:12904656 11885058 TNF tumor necrosis factor gene DOID:2352 hemochromatosis ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (human) PMID:16793930|REF_RGD_ID:12904050 11885058 TNF tumor necrosis factor gene DOID:2355 anemia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16566752 11885058 TNF tumor necrosis factor gene DOID:2355 anemia ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid PMID:14613268|REF_RGD_ID:10450570 11885058 TNF tumor necrosis factor gene DOID:2355 anemia ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with HIV Infections;protein:increased expression:serum PMID:2324681|REF_RGD_ID:10450888 11885058 TNF tumor necrosis factor gene DOID:2377 multiple sclerosis ISO RGD:11429 D RGD:9068941 20220825 MouseDO OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810 11885058 TNF tumor necrosis factor gene DOID:2377 multiple sclerosis ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (human) PMID:8887999|REF_RGD_ID:12904068 11885058 TNF tumor necrosis factor gene DOID:2377 multiple sclerosis disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:8964914|REF_RGD_ID:7401237 11885058 TNF tumor necrosis factor gene DOID:2377 multiple sclerosis no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (human) PMID:9270614|REF_RGD_ID:12904657 11885058 TNF tumor necrosis factor gene DOID:2394 ovarian cancer disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19825522|REF_RGD_ID:2315115 11885058 TNF tumor necrosis factor gene DOID:2556 relapsing polychondritis ISO RGD:11429 D RGD:9068941 20200609 RGD protein:increased expression:ear PMID:17606507|REF_RGD_ID:6483833 11885058 TNF tumor necrosis factor gene DOID:2671 transitional cell carcinoma ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3361654 11885058 TNF tumor necrosis factor gene DOID:2723 dermatitis ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:3171214|REF_RGD_ID:7394823 11885058 TNF tumor necrosis factor gene DOID:2741 bilirubin metabolic disorder ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10379864 11885058 TNF tumor necrosis factor gene DOID:2755 Mycobacterium avium complex disease ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with HIV Infections PMID:7640175|REF_RGD_ID:10450731 11885058 TNF tumor necrosis factor gene DOID:2841 asthma ISO RGD:1344192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma, susceptibility to PMID:10450718|PMID:11261930|PMID:11506397|PMID:11826025|PMID:11896460|PMID:12485196|PMID:12746914|PMID:12759288|PMID:14681301|PMID:14718719|PMID:16418737|PMID:16720636|PMID:16865291|PMID:16909270|PMID:18050183|PMID:18713756|PMID:19365401|PMID:22760475|PMID:22992668|PMID:8056188|PMID:9818939 11885058 TNF tumor necrosis factor gene DOID:2841 asthma no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: PMID:12530118|REF_RGD_ID:4143254 11885058 TNF tumor necrosis factor gene DOID:2841 asthma susceptibility ISO RGD:1344192 D RGD:7240710 20190502 OMIM 11885058 TNF tumor necrosis factor gene DOID:289 endometriosis ISO RGD:1344192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometriosis PMID:10450718|PMID:11261930|PMID:11506397|PMID:11826025|PMID:11896460|PMID:12485196|PMID:12746914|PMID:12759288|PMID:14681301|PMID:14718719|PMID:16418737|PMID:16720636|PMID:16865291|PMID:16909270|PMID:18050183|PMID:18713756|PMID:19365401|PMID:22760475|PMID:22992668|PMID:8056188|PMID:9818939 11885058 TNF tumor necrosis factor gene DOID:289 endometriosis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:21741153|REF_RGD_ID:7247423 11885058 TNF tumor necrosis factor gene DOID:2917 cryoglobulinemia ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19860001|REF_RGD_ID:10450529 11885058 TNF tumor necrosis factor gene DOID:2921 glomerulonephritis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10910440|PMID:9403216 11885058 TNF tumor necrosis factor gene DOID:2945 severe acute respiratory syndrome ISO RGD:1344192 D RGD:9068941 20200625 RGD protein:increased expression:plasma (human) PMID:14514395|REF_RGD_ID:30309961 11885058 TNF tumor necrosis factor gene DOID:2945 severe acute respiratory syndrome ISO RGD:1344192 D RGD:9068941 20200702 RGD protein:increased expression:bronchoalveolar lavage (human) PMID:15888207|REF_RGD_ID:34201108 11885058 TNF tumor necrosis factor gene DOID:2957 pulmonary tuberculosis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:9176116|REF_RGD_ID:4142835 11885058 TNF tumor necrosis factor gene DOID:2957 pulmonary tuberculosis disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:18212516|REF_RGD_ID:4143395 11885058 TNF tumor necrosis factor gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphisms::c.-857 C>T, c. -863 A>C (human) PMID:20650298|REF_RGD_ID:4143388 11885058 TNF tumor necrosis factor gene DOID:2986 IgA glomerulonephritis treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:9844059|REF_RGD_ID:6909132 11885058 TNF tumor necrosis factor gene DOID:299 adenocarcinoma ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1733439|PMID:19028472 11885058 TNF tumor necrosis factor gene DOID:3021 acute kidney failure ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16595132|PMID:18460982|PMID:20623750 11885058 TNF tumor necrosis factor gene DOID:3021 acute kidney failure susceptibility ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:21150875|REF_RGD_ID:7245548 11885058 TNF tumor necrosis factor gene DOID:3042 allergic contact dermatitis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15849067 11885058 TNF tumor necrosis factor gene DOID:3070 high grade glioma ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22199285 11885058 TNF tumor necrosis factor gene DOID:3070 high grade glioma treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:11810046|REF_RGD_ID:10450725 11885058 TNF tumor necrosis factor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNPs:promoter PMID:20352242|REF_RGD_ID:4143273 11885058 TNF tumor necrosis factor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism: :c. 489G>A (human) PMID:12537602|REF_RGD_ID:4143421 11885058 TNF tumor necrosis factor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:11179116|REF_RGD_ID:4143424 11885058 TNF tumor necrosis factor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20500811|REF_RGD_ID:4143272 11885058 TNF tumor necrosis factor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:8564092|REF_RGD_ID:4143270 11885058 TNF tumor necrosis factor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1344192 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:15337792|PMID:29497291|PMID:34652871 11885058 TNF tumor necrosis factor gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA;polymorphism: :rs361525 (human) PMID:20299531|REF_RGD_ID:4143391 11885058 TNF tumor necrosis factor gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:c.-308 G>A (human) PMID:15820084|REF_RGD_ID:4145714 11885058 TNF tumor necrosis factor gene DOID:3213 demyelinating disease treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:7479982|REF_RGD_ID:12904647 11885058 TNF tumor necrosis factor gene DOID:3310 atopic dermatitis susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:haplotype:promoter:−308G>A,-238G>A(human) PMID:22533231|REF_RGD_ID:7401246 11885058 TNF tumor necrosis factor gene DOID:332 amyotrophic lateral sclerosis ISO RGD:11429 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:13678668|REF_RGD_ID:12904653 11885058 TNF tumor necrosis factor gene DOID:3393 coronary artery disease ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-863C>A, in men without Diabetes Mellitus, Type 2 (MeSH:D003924) PMID:15059615|REF_RGD_ID:1626412 11885058 TNF tumor necrosis factor gene DOID:3454 brain infarction ISO RGD:3876 D RGD:9068941 20230216 RGD protein:increased expression:brain (rat) PMID:19895873|REF_RGD_ID:2325193 11885058 TNF tumor necrosis factor gene DOID:3458 breast adenocarcinoma ISO RGD:1344192 D RGD:9068941 20200609 RGD human protein in a rat model PMID:12536235|REF_RGD_ID:14995452 11885058 TNF tumor necrosis factor gene DOID:3492 mixed connective tissue disease ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19684145|REF_RGD_ID:8142347 11885058 TNF tumor necrosis factor gene DOID:3525 middle cerebral artery infarction ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:15647744|REF_RGD_ID:13825261 11885058 TNF tumor necrosis factor gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:11429 D RGD:9068941 20230330 RGD PMID:28630232|REF_RGD_ID:242905192 11885058 TNF tumor necrosis factor gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:3876 D RGD:9068941 20230330 RGD PMID:35322553|REF_RGD_ID:242905190 11885058 TNF tumor necrosis factor gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24916922|PMID:29498696|REF_RGD_ID:10450594|REF_RGD_ID:13792833 11885058 TNF tumor necrosis factor gene DOID:3526 cerebral infarction ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:16173529|REF_RGD_ID:1580315 11885058 TNF tumor necrosis factor gene DOID:3526 cerebral infarction treatment ISO RGD:11429 D RGD:9068941 20220930 RGD PMID:29111308|REF_RGD_ID:155260331 11885058 TNF tumor necrosis factor gene DOID:37 skin disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11885058 TNF tumor necrosis factor gene DOID:37 skin disease severity ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Arsenic Poisoning PMID:21357384|REF_RGD_ID:7364846 11885058 TNF tumor necrosis factor gene DOID:37 skin disease susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Arsenic Poisoning;DNA:SNP:promoter:-308G>A (human) PMID:21357384|REF_RGD_ID:7364846 11885058 TNF tumor necrosis factor gene DOID:3721 plasmacytoma treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:2022919|REF_RGD_ID:10449448 11885058 TNF tumor necrosis factor gene DOID:3770 pulmonary fibrosis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:2156165|PMID:7542280|REF_RGD_ID:4142851|REF_RGD_ID:4143417 11885058 TNF tumor necrosis factor gene DOID:3770 pulmonary fibrosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11394717|PMID:16324872|PMID:17266442|PMID:25216247|PMID:26368622 11885058 TNF tumor necrosis factor gene DOID:3770 pulmonary fibrosis ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:12030733|REF_RGD_ID:4143258 11885058 TNF tumor necrosis factor gene DOID:3770 pulmonary fibrosis treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:19154443|REF_RGD_ID:2314537 11885058 TNF tumor necrosis factor gene DOID:3827 congenital diaphragmatic hernia ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:10541330|REF_RGD_ID:12904053 11885058 TNF tumor necrosis factor gene DOID:3908 lung non-small cell carcinoma ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:19505916|REF_RGD_ID:4142793 11885058 TNF tumor necrosis factor gene DOID:3908 lung non-small cell carcinoma ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:9669810|REF_RGD_ID:4143264 11885058 TNF tumor necrosis factor gene DOID:399 tuberculosis ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20537163|REF_RGD_ID:4143229 11885058 TNF tumor necrosis factor gene DOID:4029 gastritis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:25335260|REF_RGD_ID:10413874 11885058 TNF tumor necrosis factor gene DOID:4079 heart valve disease ISO RGD:11429 D RGD:9068941 20220825 MouseDO 11885058 TNF tumor necrosis factor gene DOID:409 liver disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15946935 11885058 TNF tumor necrosis factor gene DOID:409 liver disease ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Hemochromatosis;DNA:SNP:promoter:-308G>A (human) PMID:11389006|REF_RGD_ID:12904656 11885058 TNF tumor necrosis factor gene DOID:4247 coronary restenosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16319143 11885058 TNF tumor necrosis factor gene DOID:4247 coronary restenosis ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:16319143|REF_RGD_ID:1580322 11885058 TNF tumor necrosis factor gene DOID:4306 radiculopathy ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord, dorsal root ganglion PMID:18848809|REF_RGD_ID:7394750 11885058 TNF tumor necrosis factor gene DOID:4362 cervical cancer susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-308G>A (human) PMID:19823053|REF_RGD_ID:2315116 11885058 TNF tumor necrosis factor gene DOID:4398 pustulosis of palm and sole ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:5' utr:multiple PMID:12691703|REF_RGD_ID:8548804 11885058 TNF tumor necrosis factor gene DOID:4398 pustulosis of palm and sole no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:multiple PMID:11019918|REF_RGD_ID:8548803 11885058 TNF tumor necrosis factor gene DOID:4450 renal cell carcinoma ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:19384924|PMID:19904265|REF_RGD_ID:2315113|REF_RGD_ID:2315119 11885058 TNF tumor necrosis factor gene DOID:4483 rhinitis ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:15120189|REF_RGD_ID:4143470 11885058 TNF tumor necrosis factor gene DOID:4483 rhinitis ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA:increased expression:nose PMID:20696593|REF_RGD_ID:4145454 11885058 TNF tumor necrosis factor gene DOID:4692 endophthalmitis ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:vitreous: PMID:16544114|REF_RGD_ID:7829753 11885058 TNF tumor necrosis factor gene DOID:4724 brain edema ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21276434 11885058 TNF tumor necrosis factor gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:21894146|REF_RGD_ID:6218988 11885058 TNF tumor necrosis factor gene DOID:5082 liver cirrhosis severity ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19695831|REF_RGD_ID:14995448 11885058 TNF tumor necrosis factor gene DOID:5199 ureteral obstruction ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:19541932|REF_RGD_ID:7245519 11885058 TNF tumor necrosis factor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:1768380|REF_RGD_ID:10449449 11885058 TNF tumor necrosis factor gene DOID:5327 retinal detachment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:21402953|REF_RGD_ID:5131257 11885058 TNF tumor necrosis factor gene DOID:5327 retinal detachment treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:21402953|REF_RGD_ID:5131257 11885058 TNF tumor necrosis factor gene DOID:5419 schizophrenia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16478754 11885058 TNF tumor necrosis factor gene DOID:5419 schizophrenia ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:15927374|REF_RGD_ID:1580313 11885058 TNF tumor necrosis factor gene DOID:5463 cochlear disease ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:29304389|REF_RGD_ID:13792837 11885058 TNF tumor necrosis factor gene DOID:552 pneumonia ISO RGD:1344192 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21625544|PMID:28917655|PMID:34390737 11885058 TNF tumor necrosis factor gene DOID:557 kidney disease ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid PMID:14613268|REF_RGD_ID:10450570 11885058 TNF tumor necrosis factor gene DOID:5614 eye disease disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Thyroid Diseases;protein:increased expression:serum: PMID:12186498|REF_RGD_ID:7387296 11885058 TNF tumor necrosis factor gene DOID:5679 retinal disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19324842 11885058 TNF tumor necrosis factor gene DOID:5773 oral submucous fibrosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 11885058 TNF tumor necrosis factor gene DOID:5844 myocardial infarction ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15883752|PMID:16310260 11885058 TNF tumor necrosis factor gene DOID:5844 myocardial infarction ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:left ventricle myocardium, plasma PMID:21362018|REF_RGD_ID:5130892 11885058 TNF tumor necrosis factor gene DOID:6000 congestive heart failure ISO RGD:11429 D RGD:9068941 20220825 MouseDO 11885058 TNF tumor necrosis factor gene DOID:6000 congestive heart failure ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15135663|PMID:15231041|PMID:17337591|PMID:18034274|PMID:29959987 11885058 TNF tumor necrosis factor gene DOID:6000 congestive heart failure ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:28939262|REF_RGD_ID:14975271 11885058 TNF tumor necrosis factor gene DOID:6000 congestive heart failure severity ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:11100001|REF_RGD_ID:7401241 11885058 TNF tumor necrosis factor gene DOID:6000 congestive heart failure treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:15210453|REF_RGD_ID:1580213 11885058 TNF tumor necrosis factor gene DOID:6000 congestive heart failure treatment ISO RGD:3876 D RGD:9068941 20200609 RGD associated with Myocardial Infarction; PMID:11668085|REF_RGD_ID:7401242 11885058 TNF tumor necrosis factor gene DOID:614 lymphopenia ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with HIV Infections;protein:increased expression:serum PMID:2324681|REF_RGD_ID:10450888 11885058 TNF tumor necrosis factor gene DOID:630 genetic disease ISO RGD:1344192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11885058 TNF tumor necrosis factor gene DOID:633 myositis ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:muscle: PMID:10399751|REF_RGD_ID:7401187 11885058 TNF tumor necrosis factor gene DOID:635 acquired immunodeficiency syndrome ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:8548330|REF_RGD_ID:12904035 11885058 TNF tumor necrosis factor gene DOID:6364 migraine ISO RGD:1344192 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Migraine with or without aura, susceptibility to, 1 PMID:25741868 11885058 TNF tumor necrosis factor gene DOID:6364 migraine susceptibility ISO RGD:1344192 D RGD:7240710 20190410 OMIM 11885058 TNF tumor necrosis factor gene DOID:640 encephalomyelitis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:9736027|REF_RGD_ID:12904033 11885058 TNF tumor necrosis factor gene DOID:6432 pulmonary hypertension ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:12391106|REF_RGD_ID:4143422 11885058 TNF tumor necrosis factor gene DOID:6432 pulmonary hypertension ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2518282 11885058 TNF tumor necrosis factor gene DOID:6432 pulmonary hypertension ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Pulmonary Edema; protein:increased expression:Bronchoalveolar Lavage Fluid PMID:9628235|REF_RGD_ID:4142833 11885058 TNF tumor necrosis factor gene DOID:6432 pulmonary hypertension ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with pulmonary disease, chronic obstructive; protein:increased expression:serum PMID:16899829|REF_RGD_ID:4143280 11885058 TNF tumor necrosis factor gene DOID:6543 acne susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:c.-308 G>A (human) PMID:18615253|REF_RGD_ID:7394817 11885058 TNF tumor necrosis factor gene DOID:684 hepatocellular carcinoma ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27022031 11885058 TNF tumor necrosis factor gene DOID:684 hepatocellular carcinoma ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:26890368|REF_RGD_ID:14975171 11885058 TNF tumor necrosis factor gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:11429 D RGD:9068941 20210423 RGD mRNA, protein:increased expression:liver, blood serum (mouse) PMID:26569409|REF_RGD_ID:11344640 11885058 TNF tumor necrosis factor gene DOID:699 mitochondrial myopathy ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 11885058 TNF tumor necrosis factor gene DOID:7148 rheumatoid arthritis ISO RGD:11429 D RGD:9068941 20220825 MouseDO OMIM:180300 11885058 TNF tumor necrosis factor gene DOID:7148 rheumatoid arthritis ISO RGD:1344192 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12566094|PMID:2001072|PMID:22450443|PMID:34459104|PMID:8391952 11885058 TNF tumor necrosis factor gene DOID:7148 rheumatoid arthritis ISO RGD:1344192 D RGD:9068941 20221117 RGD mRNA:increased expression:synovial (human) PMID:22660635|REF_RGD_ID:155663483 11885058 TNF tumor necrosis factor gene DOID:7148 rheumatoid arthritis no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-238G>A, -308G>A (human) PMID:25311255|REF_RGD_ID:12904065 11885058 TNF tumor necrosis factor gene DOID:7148 rheumatoid arthritis treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:12563673|REF_RGD_ID:10450537 11885058 TNF tumor necrosis factor gene DOID:7148 rheumatoid arthritis treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-857C>T (human) PMID:25311255|REF_RGD_ID:12904065 11885058 TNF tumor necrosis factor gene DOID:7188 autoimmune thyroiditis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:17046971|REF_RGD_ID:4841878 11885058 TNF tumor necrosis factor gene DOID:7427 anthrax disease disease_progression ISO RGD:11429 D RGD:9068941 20201211 RGD protein:decreased expression:multiple (mouse) PMID:19075243|REF_RGD_ID:40902812 11885058 TNF tumor necrosis factor gene DOID:767 muscular atrophy ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24534773 11885058 TNF tumor necrosis factor gene DOID:769 neuroblastoma ISO RGD:1344192 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 11885058 TNF tumor necrosis factor gene DOID:780 placenta disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16007645 11885058 TNF tumor necrosis factor gene DOID:783 end stage renal disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19539174 11885058 TNF tumor necrosis factor gene DOID:783 end stage renal disease ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma PMID:22266663|REF_RGD_ID:7245510 11885058 TNF tumor necrosis factor gene DOID:813 septic arthritis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19203382 11885058 TNF tumor necrosis factor gene DOID:820 myocarditis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18627770|PMID:25396421 11885058 TNF tumor necrosis factor gene DOID:824 periodontitis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24586097|REF_RGD_ID:10450598 11885058 TNF tumor necrosis factor gene DOID:8283 peritonitis ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:26601826|REF_RGD_ID:14975296 11885058 TNF tumor necrosis factor gene DOID:8283 peritonitis ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20819637|REF_RGD_ID:4143378 11885058 TNF tumor necrosis factor gene DOID:841 extrinsic allergic alveolitis ISO RGD:11429 D RGD:9068941 20200609 RGD protein:increased expression:Bronchoalveolar Lavage Fluid PMID:10882225|REF_RGD_ID:4142832 11885058 TNF tumor necrosis factor gene DOID:841 extrinsic allergic alveolitis ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:15653992|REF_RGD_ID:4143466 11885058 TNF tumor necrosis factor gene DOID:8463 corneal ulcer ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Arthritis,Rheumatoid;mRNA:increased expression:keratocyte: PMID:12714388|REF_RGD_ID:7829721 11885058 TNF tumor necrosis factor gene DOID:8472 localized scleroderma ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9843018 11885058 TNF tumor necrosis factor gene DOID:8483 retinal artery occlusion ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:19421412|REF_RGD_ID:7829809 11885058 TNF tumor necrosis factor gene DOID:850 lung disease ISO RGD:11429 D RGD:9068941 20200609 RGD lung injury PMID:12377989|REF_RGD_ID:4142809 11885058 TNF tumor necrosis factor gene DOID:850 lung disease ISO RGD:11429 D RGD:9068941 20200609 RGD lung injury; mRNA:increased expression:lung PMID:12745880|REF_RGD_ID:4142805 11885058 TNF tumor necrosis factor gene DOID:850 lung disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11472967 11885058 TNF tumor necrosis factor gene DOID:850 lung disease ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with premature birth; protein:increased expression:lung PMID:9462189|REF_RGD_ID:4143432 11885058 TNF tumor necrosis factor gene DOID:850 lung disease ISO RGD:3876 D RGD:9068941 20200609 RGD acute lung injury; mRNA:increased expression:lung PMID:15461830|REF_RGD_ID:4145512 11885058 TNF tumor necrosis factor gene DOID:850 lung disease ISO RGD:3876 D RGD:9068941 20200609 RGD lung injury associated with pancreatitis; protein:increased expression:Bronchoalveolar Lavage Fluid PMID:10455887|REF_RGD_ID:4143427 11885058 TNF tumor necrosis factor gene DOID:850 lung disease ISO RGD:3876 D RGD:9068941 20200609 RGD ventilator-induced lung injury; protein:altered expression:lung: PMID:11126266|REF_RGD_ID:4143425 11885058 TNF tumor necrosis factor gene DOID:8505 dermatitis herpetiformis ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:7914110|REF_RGD_ID:8548777 11885058 TNF tumor necrosis factor gene DOID:8515 Cor pulmonale ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20669672|REF_RGD_ID:4143386 11885058 TNF tumor necrosis factor gene DOID:8536 herpes zoster ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:: PMID:21954956|REF_RGD_ID:8663478 11885058 TNF tumor necrosis factor gene DOID:8577 ulcerative colitis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19617644|PMID:20452301|PMID:22119283 11885058 TNF tumor necrosis factor gene DOID:8577 ulcerative colitis ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:28120341|REF_RGD_ID:14975153 11885058 TNF tumor necrosis factor gene DOID:8577 ulcerative colitis ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:24812904|REF_RGD_ID:10450593 11885058 TNF tumor necrosis factor gene DOID:8577 ulcerative colitis treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:25204186|REF_RGD_ID:10450577 11885058 TNF tumor necrosis factor gene DOID:863 nervous system disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14999072 11885058 TNF tumor necrosis factor gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:intestine PMID:19824106|REF_RGD_ID:4144091 11885058 TNF tumor necrosis factor gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:16269520|REF_RGD_ID:1580205 11885058 TNF tumor necrosis factor gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19824106|REF_RGD_ID:4144091 11885058 TNF tumor necrosis factor gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:3876 D RGD:9068941 20211126 RGD mRNA:increased expression:ileum (rat) PMID:20501441|REF_RGD_ID:2324672 11885058 TNF tumor necrosis factor gene DOID:8725 vascular dementia susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-850C>T(human) PMID:11273064|REF_RGD_ID:13825254 11885058 TNF tumor necrosis factor gene DOID:874 bacterial pneumonia disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:10650487|REF_RGD_ID:4143476 11885058 TNF tumor necrosis factor gene DOID:874 bacterial pneumonia severity ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:12958055|REF_RGD_ID:10449451 11885058 TNF tumor necrosis factor gene DOID:874 bacterial pneumonia treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:9310939|REF_RGD_ID:10450564 11885058 TNF tumor necrosis factor gene DOID:874 bacterial pneumonia treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Agranulocytosis PMID:7546648|REF_RGD_ID:10755357 11885058 TNF tumor necrosis factor gene DOID:8778 Crohn's disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10700533|PMID:21829567 11885058 TNF tumor necrosis factor gene DOID:8778 Crohn's disease ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:intestine mucosa PMID:21359923|REF_RGD_ID:5130893 11885058 TNF tumor necrosis factor gene DOID:8778 Crohn's disease treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:22531889|REF_RGD_ID:8661753 11885058 TNF tumor necrosis factor gene DOID:8893 psoriasis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844318|PMID:7744320 11885058 TNF tumor necrosis factor gene DOID:8893 psoriasis ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:16821276|REF_RGD_ID:7401180 11885058 TNF tumor necrosis factor gene DOID:8893 psoriasis susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP: :-238G>A(rs361525)(human) PMID:9326391|REF_RGD_ID:7394813 11885058 TNF tumor necrosis factor gene DOID:893 Wilson disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25002079 11885058 TNF tumor necrosis factor gene DOID:8947 diabetic retinopathy ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:22105495|REF_RGD_ID:7364856 11885058 TNF tumor necrosis factor gene DOID:8947 diabetic retinopathy ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum, vitreous humour PMID:16284605|REF_RGD_ID:7401212 11885058 TNF tumor necrosis factor gene DOID:8947 diabetic retinopathy disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:platelet: PMID:10540181|REF_RGD_ID:7394805 11885058 TNF tumor necrosis factor gene DOID:8947 diabetic retinopathy no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphism:promoter:-302A>G (human) PMID:16979413|REF_RGD_ID:8548772 11885058 TNF tumor necrosis factor gene DOID:90 degenerative disc disease ISO RGD:1344192 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:34600870 11885058 TNF tumor necrosis factor gene DOID:900 hepatopulmonary syndrome treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:26236934|REF_RGD_ID:14696802 11885058 TNF tumor necrosis factor gene DOID:9000039 Spinal Cord Injuries ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:20633123|REF_RGD_ID:5131936 11885058 TNF tumor necrosis factor gene DOID:9000099 Experimental Colitis treatment ISO RGD:3876 D RGD:9068941 20220623 RGD PMID:21296062|PMID:29572553|REF_RGD_ID:152995414|REF_RGD_ID:8661763 11885058 TNF tumor necrosis factor gene DOID:9000113 Pneumococcal Meningitis ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:25443778|REF_RGD_ID:9831197 11885058 TNF tumor necrosis factor gene DOID:9000113 Pneumococcal Meningitis disease_progression ISO RGD:3876 D RGD:9068941 20210219 RGD mRNA:increased expression:brain (rat) PMID:31933824|REF_RGD_ID:40903068 11885058 TNF tumor necrosis factor gene DOID:9000197 Edema ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19874808 11885058 TNF tumor necrosis factor gene DOID:9000217 Stomach Neoplasms ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15201584|PMID:1733439 11885058 TNF tumor necrosis factor gene DOID:9000220 Coxsackievirus Infections ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25396421 11885058 TNF tumor necrosis factor gene DOID:9000300 Refractory Anemia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10870480 11885058 TNF tumor necrosis factor gene DOID:9000304 Manganese Poisoning ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18041089 11885058 TNF tumor necrosis factor gene DOID:9000310 Lung Injury ISO RGD:1344192 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:2518282|PMID:26243812|PMID:34255241 11885058 TNF tumor necrosis factor gene DOID:9000352 Vascular System Injuries ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19234301 11885058 TNF tumor necrosis factor gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27157545 11885058 TNF tumor necrosis factor gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19719951|REF_RGD_ID:4144093 11885058 TNF tumor necrosis factor gene DOID:9000540 HIV Wasting Syndrome ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 11885058 TNF tumor necrosis factor gene DOID:9000641 Pain ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18582539|PMID:20383154 11885058 TNF tumor necrosis factor gene DOID:9000656 Penetrating Wounds ISO RGD:3876 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:26101070|REF_RGD_ID:11049529 11885058 TNF tumor necrosis factor gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with asthma; DNA:polymorphism:promoter: c. -308A>G (human) PMID:17196641|REF_RGD_ID:4144784 11885058 TNF tumor necrosis factor gene DOID:9000784 Fibrosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18034274 11885058 TNF tumor necrosis factor gene DOID:9000855 Experimental Radiation Injuries ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11121210 11885058 TNF tumor necrosis factor gene DOID:9000918 Disease Progression ISO RGD:1344192 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 11885058 TNF tumor necrosis factor gene DOID:9000927 Alveolar Bone Loss treatment ISO RGD:3876 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:26270535|REF_RGD_ID:11049527 11885058 TNF tumor necrosis factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23431386|PMID:8032535 11885058 TNF tumor necrosis factor gene DOID:9000972 Fever ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10379864|PMID:11852909|PMID:15384034 11885058 TNF tumor necrosis factor gene DOID:9000998 Brain Injuries ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19800810|PMID:21549006 11885058 TNF tumor necrosis factor gene DOID:9000998 Brain Injuries ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:10674461|REF_RGD_ID:13825262 11885058 TNF tumor necrosis factor gene DOID:9001109 Anorexia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25392278 11885058 TNF tumor necrosis factor gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion: PMID:19543754|REF_RGD_ID:7394752 11885058 TNF tumor necrosis factor gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:nucleus accumbens PMID:24845379|REF_RGD_ID:10450588 11885058 TNF tumor necrosis factor gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:7556590|REF_RGD_ID:14995472 11885058 TNF tumor necrosis factor gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:15670576|PMID:9397994|REF_RGD_ID:14398736|REF_RGD_ID:14995456 11885058 TNF tumor necrosis factor gene DOID:9001365 Amebic Liver Abscess treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:10862314|REF_RGD_ID:14928216 11885058 TNF tumor necrosis factor gene DOID:9001472 Nasal Polyps ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNPs:promoter: PMID:17638785|REF_RGD_ID:4142855 11885058 TNF tumor necrosis factor gene DOID:9001488 Human Influenza ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21062445|REF_RGD_ID:5128683 11885058 TNF tumor necrosis factor gene DOID:9001542 Albuminuria ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17167242 11885058 TNF tumor necrosis factor gene DOID:9001553 Spinal Cord Compression ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15135227 11885058 TNF tumor necrosis factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:11429 D RGD:9068941 20201023 RGD mRNA:increased expression:liver (mouse) PMID:28465467|REF_RGD_ID:39939037 11885058 TNF tumor necrosis factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16085334 11885058 TNF tumor necrosis factor gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24383550|REF_RGD_ID:10450610 11885058 TNF tumor necrosis factor gene DOID:9001579 Neurogenic Inflammation ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21570423 11885058 TNF tumor necrosis factor gene DOID:9001579 Neurogenic Inflammation ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:23333565|REF_RGD_ID:7245573 11885058 TNF tumor necrosis factor gene DOID:9001579 Neurogenic Inflammation ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:23333565|REF_RGD_ID:7245573 11885058 TNF tumor necrosis factor gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 11885058 TNF tumor necrosis factor gene DOID:9001586 Experimental Liver Neoplasms disease_progression ISO RGD:11429 D RGD:9068941 20210423 RGD protein:increased expression:blood serum (mouse) PMID:26569409|REF_RGD_ID:11344640 11885058 TNF tumor necrosis factor gene DOID:9001586 Experimental Liver Neoplasms treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD Morris hepatoma PMID:9063767|REF_RGD_ID:14696818 11885058 TNF tumor necrosis factor gene DOID:9001600 Wounds and Injuries ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 11885058 TNF tumor necrosis factor gene DOID:9001650 Pregnancy-Induced Hypertension treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:18981324|REF_RGD_ID:13825265 11885058 TNF tumor necrosis factor gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20981132 11885058 TNF tumor necrosis factor gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1344192 D RGD:9068941 20220922 RGD protein:increased expression:blood serum (human) PMID:32178736|REF_RGD_ID:155230830 11885058 TNF tumor necrosis factor gene DOID:9001686 Acute Coronary Syndrome treatment ISO RGD:3876 D RGD:9068941 20220922 RGD PMID:32178736|REF_RGD_ID:155230830 11885058 TNF tumor necrosis factor gene DOID:9001708 Hemorrhagic Shock ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 11885058 TNF tumor necrosis factor gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24315526|REF_RGD_ID:10450602 11885058 TNF tumor necrosis factor gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:9032201|REF_RGD_ID:4143479 11885058 TNF tumor necrosis factor gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:11429 D RGD:9068941 20200609 RGD associated with influenza;protein:increased expression:lung PMID:17348295|REF_RGD_ID:4145366 11885058 TNF tumor necrosis factor gene DOID:9002153 Chronic Allograft Dysfunction treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24598936|REF_RGD_ID:10450586 11885058 TNF tumor necrosis factor gene DOID:9002159 Liver Reperfusion Injury ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:10454827|PMID:17164725|REF_RGD_ID:14696803|REF_RGD_ID:14985258 11885058 TNF tumor necrosis factor gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:11429 D RGD:9068941 20220930 RGD PMID:32155285|REF_RGD_ID:155260323 11885058 TNF tumor necrosis factor gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:3876 D RGD:9068941 20200820 RGD PMID:11129814|PMID:11592783|PMID:15457564|PMID:19357028|PMID:21125813|PMID:24726586|REF_RGD_ID:10450597|REF_RGD_ID:14985257|REF_RGD_ID:14995447|REF_RGD_ID:14995473|REF_RGD_ID:15039406|REF_RGD_ID:2325259 11885058 TNF tumor necrosis factor gene DOID:9002165 Diabetic Nephropathies ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:16141456|REF_RGD_ID:1580311 11885058 TNF tumor necrosis factor gene DOID:9002165 Diabetic Nephropathies ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:16336586|REF_RGD_ID:1580208 11885058 TNF tumor necrosis factor gene DOID:9002165 Diabetic Nephropathies ISO RGD:3876 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:12969138|REF_RGD_ID:1580296 11885058 TNF tumor necrosis factor gene DOID:9002165 Diabetic Nephropathies ISO RGD:3876 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:urine PMID:21441310|REF_RGD_ID:5135032 11885058 TNF tumor necrosis factor gene DOID:9002170 Experimental Neoplasms ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12627504|PMID:1674182|PMID:3361654 11885058 TNF tumor necrosis factor gene DOID:9002211 Hyperalgesia ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:10825476|PMID:18790011|REF_RGD_ID:7394737|REF_RGD_ID:7394741 11885058 TNF tumor necrosis factor gene DOID:9002211 Hyperalgesia ISO RGD:11429 D RGD:9068941 20200609 RGD associated with Diabetic Neuropathies; PMID:21104419|REF_RGD_ID:7401179 11885058 TNF tumor necrosis factor gene DOID:9002211 Hyperalgesia ISO RGD:11429 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal cord: PMID:18790011|REF_RGD_ID:7394737 11885058 TNF tumor necrosis factor gene DOID:9002211 Hyperalgesia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10401557|PMID:12727271|PMID:16472913|PMID:17320857|PMID:18463260|PMID:18582539|PMID:20383154|PMID:26141506|PMID:27093858|PMID:7582491|PMID:7881729 11885058 TNF tumor necrosis factor gene DOID:9002211 Hyperalgesia ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:16675114|PMID:17304130|PMID:17459378|REF_RGD_ID:7387300|REF_RGD_ID:7387302|REF_RGD_ID:7394757 11885058 TNF tumor necrosis factor gene DOID:9002211 Hyperalgesia ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:lumbar vertebra: PMID:16675114|REF_RGD_ID:7387300 11885058 TNF tumor necrosis factor gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:22945689|REF_RGD_ID:11041895 11885058 TNF tumor necrosis factor gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow, blood, lymphocyte PMID:12010662|REF_RGD_ID:10449463 11885058 TNF tumor necrosis factor gene DOID:9002371 Cardiotoxicity ISO RGD:1344192 D RGD:9068941 20200910 CTD CTD Direct Evidence: marker/mechanism PMID:29959987|PMID:32068018 11885058 TNF tumor necrosis factor gene DOID:9002395 Hypothermia ISO RGD:1344192 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:16369138|PMID:34942311 11885058 TNF tumor necrosis factor gene DOID:9002457 Experimental Arthritis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19203382|PMID:19330884|PMID:19765281|PMID:20131233|PMID:20974942|PMID:21452922|PMID:22450443|PMID:7589090|PMID:9598899 11885058 TNF tumor necrosis factor gene DOID:9002457 Experimental Arthritis ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24394943|REF_RGD_ID:10450611 11885058 TNF tumor necrosis factor gene DOID:9002457 Experimental Arthritis ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19169271|REF_RGD_ID:8662976 11885058 TNF tumor necrosis factor gene DOID:9002457 Experimental Arthritis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:21690068|PMID:23052485|PMID:23140046|PMID:24028507|PMID:29408684|REF_RGD_ID:10755447|REF_RGD_ID:13792834|REF_RGD_ID:7193038|REF_RGD_ID:7245941|REF_RGD_ID:8661761 11885058 TNF tumor necrosis factor gene DOID:9002549 Shock treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:2040364|PMID:7537468|REF_RGD_ID:10450572|REF_RGD_ID:10450732 11885058 TNF tumor necrosis factor gene DOID:9002554 Tachycardia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10379864 11885058 TNF tumor necrosis factor gene DOID:9002676 Cerebral Hemorrhage ameliorates ISO RGD:3876 D RGD:9068941 20230504 RGD PMID:31376096|REF_RGD_ID:329337378 11885058 TNF tumor necrosis factor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:11421579|REF_RGD_ID:12904661 11885058 TNF tumor necrosis factor gene DOID:9002884 Emphysema ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:15805183|REF_RGD_ID:4143415 11885058 TNF tumor necrosis factor gene DOID:9002906 Multiple Organ Failure ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10890648|PMID:9696492 11885058 TNF tumor necrosis factor gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:15681845|PMID:19342600|REF_RGD_ID:7394795|REF_RGD_ID:7394799 11885058 TNF tumor necrosis factor gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA:increased expression:cochlea: PMID:19051071|REF_RGD_ID:7394705 11885058 TNF tumor necrosis factor gene DOID:9002928 Colonic Neoplasms ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12842827|PMID:19028472 11885058 TNF tumor necrosis factor gene DOID:9002953 Escherichia Coli Infections ISO RGD:3876 D RGD:9068941 20200820 RGD protein:increased expression:serum (rat) PMID:9466473|REF_RGD_ID:38508904 11885058 TNF tumor necrosis factor gene DOID:9002955 Nerve Degeneration ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15153526|PMID:22921461|PMID:9710261 11885058 TNF tumor necrosis factor gene DOID:9003104 Intracranial Hemorrhages ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:16322490|REF_RGD_ID:1580310 11885058 TNF tumor necrosis factor gene DOID:9003291 Aggressive Fibromatosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19944662 11885058 TNF tumor necrosis factor gene DOID:9003470 Picornaviridae Infections ISO RGD:11429 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive;mRNA,protein:increased expression:lung PMID:19748999|REF_RGD_ID:4145626 11885058 TNF tumor necrosis factor gene DOID:9003505 Venous Thromboembolism ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22473048 11885058 TNF tumor necrosis factor gene DOID:9003507 Premature Birth ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27748297 11885058 TNF tumor necrosis factor gene DOID:9003817 Sudden Hearing Loss ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:11189185|REF_RGD_ID:7394753 11885058 TNF tumor necrosis factor gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis severity ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19690440|REF_RGD_ID:7245518 11885058 TNF tumor necrosis factor gene DOID:9003936 Cardiomegaly ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15302781|PMID:17337591|PMID:18034274 11885058 TNF tumor necrosis factor gene DOID:9004009 Reperfusion Injury ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10706834|PMID:12024109|PMID:15829914|PMID:16971220|PMID:17112405|PMID:18460982|PMID:19058328|PMID:23743330|PMID:23875703|PMID:24898700 11885058 TNF tumor necrosis factor gene DOID:9004017 Chronic Hepatitis C ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9047083|REF_RGD_ID:14995307 11885058 TNF tumor necrosis factor gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:9440625|REF_RGD_ID:14995439 11885058 TNF tumor necrosis factor gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1344192 D RGD:9068941 20200813 RGD PMID:25708446|REF_RGD_ID:38456002 11885058 TNF tumor necrosis factor gene DOID:9004283 Transplant Rejection ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:8094579|REF_RGD_ID:7401188 11885058 TNF tumor necrosis factor gene DOID:9004283 Transplant Rejection treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:2338821|REF_RGD_ID:8548836 11885058 TNF tumor necrosis factor gene DOID:9004484 Sepsis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15489642|PMID:8741040|PMID:9806674 11885058 TNF tumor necrosis factor gene DOID:9004484 Sepsis ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:15665729|REF_RGD_ID:5147745 11885058 TNF tumor necrosis factor gene DOID:9004484 Sepsis ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:19695174|REF_RGD_ID:4144094 11885058 TNF tumor necrosis factor gene DOID:9004484 Sepsis treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:27488951|REF_RGD_ID:14975262 11885058 TNF tumor necrosis factor gene DOID:9004484 Sepsis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24055021|REF_RGD_ID:7364867 11885058 TNF tumor necrosis factor gene DOID:9004501 Meningeal Tuberculosis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:10318940|REF_RGD_ID:10449456 11885058 TNF tumor necrosis factor gene DOID:9004531 Cardiovirus Infections ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10609881 11885058 TNF tumor necrosis factor gene DOID:9004538 Hearing Loss ISO RGD:11429 D RGD:9068941 20200609 RGD associated with Cytomegalovirus Infections;protein:increased expression:scala tympani: PMID:22001951|REF_RGD_ID:7394702 11885058 TNF tumor necrosis factor gene DOID:9004547 Thyroid Neoplasms ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 11885058 TNF tumor necrosis factor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22199285|PMID:23431386|PMID:23899529|PMID:24613819 11885058 TNF tumor necrosis factor gene DOID:9004590 Acute Liver Failure ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19505222 11885058 TNF tumor necrosis factor gene DOID:9004590 Acute Liver Failure ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:18070011|REF_RGD_ID:4144156 11885058 TNF tumor necrosis factor gene DOID:9004590 Acute Liver Failure severity ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:10979906|REF_RGD_ID:14995442 11885058 TNF tumor necrosis factor gene DOID:9004590 Acute Liver Failure treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:18946736|REF_RGD_ID:14700674 11885058 TNF tumor necrosis factor gene DOID:9004590 Acute Liver Failure treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:12960499|REF_RGD_ID:10450538 11885058 TNF tumor necrosis factor gene DOID:9004610 Acute Lung Injury ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (rs1800629) (human) PMID:30412745|REF_RGD_ID:14975158 11885058 TNF tumor necrosis factor gene DOID:9004610 Acute Lung Injury ISO RGD:1344192 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34390737 11885058 TNF tumor necrosis factor gene DOID:9004610 Acute Lung Injury ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:21767135|REF_RGD_ID:6480432 11885058 TNF tumor necrosis factor gene DOID:9004610 Acute Lung Injury ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:19106808|REF_RGD_ID:5147925 11885058 TNF tumor necrosis factor gene DOID:9004610 Acute Lung Injury no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs1799964 (human) PMID:30412745|REF_RGD_ID:14975158 11885058 TNF tumor necrosis factor gene DOID:9004610 Acute Lung Injury treatment ISO RGD:3876 D RGD:9068941 20200609 RGD associated with Liver Reperfusion Injury PMID:11129814|REF_RGD_ID:14995473 11885058 TNF tumor necrosis factor gene DOID:9004649 Heat Stroke ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16878031|PMID:24039931 11885058 TNF tumor necrosis factor gene DOID:9004657 Weight Gain ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20521320 11885058 TNF tumor necrosis factor gene DOID:9004751 Nausea ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10379864 11885058 TNF tumor necrosis factor gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9032749 11885058 TNF tumor necrosis factor gene DOID:9004932 Eales Disease ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:19585364|REF_RGD_ID:7401211 11885058 TNF tumor necrosis factor gene DOID:9004932 Eales Disease ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:promoter PMID:20720222|REF_RGD_ID:7364860 11885058 TNF tumor necrosis factor gene DOID:9004932 Eales Disease ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:vitreous fluid: PMID:21394064|REF_RGD_ID:7387275 11885058 TNF tumor necrosis factor gene DOID:9004932 Eales Disease disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21849807|REF_RGD_ID:7394772 11885058 TNF tumor necrosis factor gene DOID:9004932 Eales Disease severity ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21139707|REF_RGD_ID:7387277 11885058 TNF tumor necrosis factor gene DOID:9004974 Painful Neuropathy ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:10825476|PMID:18394803|REF_RGD_ID:7394739|REF_RGD_ID:7394741 11885058 TNF tumor necrosis factor gene DOID:9004974 Painful Neuropathy ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:Schwann cell PMID:11376190|REF_RGD_ID:7394735 11885058 TNF tumor necrosis factor gene DOID:9004974 Painful Neuropathy ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:9514564|REF_RGD_ID:7394740 11885058 TNF tumor necrosis factor gene DOID:9005172 Lung Neoplasms ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14587096|PMID:22369883 11885058 TNF tumor necrosis factor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:19755514|REF_RGD_ID:7401185 11885058 TNF tumor necrosis factor gene DOID:9005236 Drug Eruptions ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31150805 11885058 TNF tumor necrosis factor gene DOID:9005254 Systemic Candidiasis ISO RGD:11429 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spleen, plasma PMID:11562071|REF_RGD_ID:10449457 11885058 TNF tumor necrosis factor gene DOID:9005269 Stable Angina ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20981132 11885058 TNF tumor necrosis factor gene DOID:9005372 Inflammation ISO RGD:1344192 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:11181422|PMID:12843254|PMID:14970111|PMID:16001271|PMID:16227999|PMID:19324842|PMID:19803787|PMID:20167660|PMID:20943792|PMID:21146893|PMID:21467745|PMID:22452660|PMID:23348408|PMID:23371441|PMID:23795810|PMID:34942311 11885058 TNF tumor necrosis factor gene DOID:9005372 Inflammation treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:25706245|PMID:26069367|REF_RGD_ID:11059519|REF_RGD_ID:11059520 11885058 TNF tumor necrosis factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12123627|PMID:12193562|PMID:19478208|PMID:20388520|PMID:22138235|PMID:24513509 11885058 TNF tumor necrosis factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:20555424|REF_RGD_ID:4142788 11885058 TNF tumor necrosis factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:21481476|REF_RGD_ID:5131250 11885058 TNF tumor necrosis factor gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:19220660|PMID:24374093|REF_RGD_ID:10450575|REF_RGD_ID:2312478 11885058 TNF tumor necrosis factor gene DOID:9005724 Fungal Lung Diseases ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:16544260|REF_RGD_ID:4145506 11885058 TNF tumor necrosis factor gene DOID:9005749 Necrosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10631206|PMID:10909967|PMID:22345571|PMID:24548419 11885058 TNF tumor necrosis factor gene DOID:9005873 Tongue Neoplasms ISO RGD:11429 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:tongue: PMID:14747060|REF_RGD_ID:7401243 11885058 TNF tumor necrosis factor gene DOID:9005873 Tongue Neoplasms ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:saliva PMID:21397550|REF_RGD_ID:7401244 11885058 TNF tumor necrosis factor gene DOID:9005882 Spine Osteoarthritis ISO RGD:1344192 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34697729 11885058 TNF tumor necrosis factor gene DOID:9005883 Pleural Effusion ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2518282 11885058 TNF tumor necrosis factor gene DOID:9005930 Endotoxemia ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:20519137|PMID:21396682|REF_RGD_ID:5147765|REF_RGD_ID:5147779 11885058 TNF tumor necrosis factor gene DOID:9005930 Endotoxemia ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17324147|REF_RGD_ID:4891465 11885058 TNF tumor necrosis factor gene DOID:9005930 Endotoxemia ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:8283134|REF_RGD_ID:14995443 11885058 TNF tumor necrosis factor gene DOID:9005930 Endotoxemia treatment ISO RGD:11429 D RGD:9068941 20210312 RGD XCO:0000822 JTE-607 PMID:10493164|REF_RGD_ID:40903016 11885058 TNF tumor necrosis factor gene DOID:9005930 Endotoxemia treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:12813371|PMID:18078960|REF_RGD_ID:14995427|REF_RGD_ID:15023464 11885058 TNF tumor necrosis factor gene DOID:9005930 Endotoxemia treatment ISO RGD:3876 D RGD:9068941 20200820 RGD associated with liver cirrhosis PMID:15242491|REF_RGD_ID:38501090 11885058 TNF tumor necrosis factor gene DOID:9005941 Rhinosinusitis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:20147558|REF_RGD_ID:7401236 11885058 TNF tumor necrosis factor gene DOID:9005941 Rhinosinusitis ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity epithelium PMID:11197112|REF_RGD_ID:7401169 11885058 TNF tumor necrosis factor gene DOID:9005968 Neuralgia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20846523 11885058 TNF tumor necrosis factor gene DOID:9006024 Hypotension ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10379864|PMID:15384034 11885058 TNF tumor necrosis factor gene DOID:9006081 Osteolysis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15878362 11885058 TNF tumor necrosis factor gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24826482|REF_RGD_ID:10450584 11885058 TNF tumor necrosis factor gene DOID:9006205 Animal Disease Models ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 11885058 TNF tumor necrosis factor gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19925291|REF_RGD_ID:2315112 11885058 TNF tumor necrosis factor gene DOID:9006262 Cytomegalovirus Infections ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:7815559|REF_RGD_ID:12904072 11885058 TNF tumor necrosis factor gene DOID:9006281 Temporomandibular Joint Disorders severity ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with connective tissue diseases; PMID:10800908|REF_RGD_ID:7401181 11885058 TNF tumor necrosis factor gene DOID:9006388 Vulvar Vestibulitis ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:vagina PMID:9015038|REF_RGD_ID:7394738 11885058 TNF tumor necrosis factor gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24441717|REF_RGD_ID:10450604 11885058 TNF tumor necrosis factor gene DOID:9006647 Experimental Autoimmune Neuritis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:18400050|REF_RGD_ID:7401218 11885058 TNF tumor necrosis factor gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1344192 D RGD:9068941 20211015 CTD CTD Direct Evidence: marker/mechanism PMID:33961948 11885058 TNF tumor necrosis factor gene DOID:9006709 Primary Graft Dysfunction treatment ISO RGD:3876 D RGD:9068941 20200609 RGD liver PMID:18972563|REF_RGD_ID:15023490 11885058 TNF tumor necrosis factor gene DOID:9006741 Acute Hepatitis disease_progression ISO RGD:11429 D RGD:9068941 20210423 RGD protein:increased expression:blood serum (mouse) PMID:26569409|REF_RGD_ID:11344640 11885058 TNF tumor necrosis factor gene DOID:9006741 Acute Hepatitis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:15476865|REF_RGD_ID:14688052 11885058 TNF tumor necrosis factor gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1344192 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 11885058 TNF tumor necrosis factor gene DOID:9006827 Lung Reperfusion Injury ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:17294835|REF_RGD_ID:4143397 11885058 TNF tumor necrosis factor gene DOID:9006827 Lung Reperfusion Injury ameliorates ISO RGD:11429 D RGD:9068941 20220915 RGD PMID:34238924|REF_RGD_ID:153350155 11885058 TNF tumor necrosis factor gene DOID:9006844 Streptococcal Infections ISO RGD:8789275 D RGD:9068941 20200609 RGD associated with Otitis Media PMID:8302123|REF_RGD_ID:11554174 11885058 TNF tumor necrosis factor gene DOID:9006928 Viral Bronchiolitis ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:nasal lavage fluid PMID:20088864|REF_RGD_ID:4143440 11885058 TNF tumor necrosis factor gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP: :rs1799724(human) PMID:17703412|REF_RGD_ID:4889847 11885058 TNF tumor necrosis factor gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: c. -308A>G (human) PMID:19849941|REF_RGD_ID:4143441 11885058 TNF tumor necrosis factor gene DOID:9006944 Alcoholic Fatty Liver susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-238G>A (human) PMID:9214463|REF_RGD_ID:14995434 11885058 TNF tumor necrosis factor gene DOID:9006944 Alcoholic Fatty Liver treatment ISO RGD:3876 D RGD:9068941 20200820 RGD PMID:20143470|REF_RGD_ID:38508901 11885058 TNF tumor necrosis factor gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17909696 11885058 TNF tumor necrosis factor gene DOID:9007039 Ventricular Dysfunction ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20626112 11885058 TNF tumor necrosis factor gene DOID:9007073 Cough ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:10325899|REF_RGD_ID:4143478 11885058 TNF tumor necrosis factor gene DOID:9007096 Stroke ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10950380 11885058 TNF tumor necrosis factor gene DOID:9007096 Stroke ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:21171972|REF_RGD_ID:4891154 11885058 TNF tumor necrosis factor gene DOID:9007096 Stroke susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:polymorphism:promoter:-308G>A(rs1800629)(human) PMID:14615367|REF_RGD_ID:11529997 11885058 TNF tumor necrosis factor gene DOID:9007102 Myocardial Ischemia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533|PMID:16775501 11885058 TNF tumor necrosis factor gene DOID:9007153 Pediatric Crohn's Disease ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:11321389|REF_RGD_ID:7394742 11885058 TNF tumor necrosis factor gene DOID:9007188 Liver Neoplasms ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24183702 11885058 TNF tumor necrosis factor gene DOID:9007346 Cachexia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17878525 11885058 TNF tumor necrosis factor gene DOID:9007346 Cachexia ISO RGD:3876 D RGD:9068941 20200609 RGD associated with hepatocellular carcinoma;mRNA:altered expression:skeletal muscle tissue, adipose tissue (rat) PMID:16077938|REF_RGD_ID:1624190 11885058 TNF tumor necrosis factor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17709330|PMID:19638433|PMID:20623750|PMID:21984482|PMID:7532385|PMID:9696492 11885058 TNF tumor necrosis factor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:11124822|PMID:17070847|REF_RGD_ID:14696804|REF_RGD_ID:14995429 11885058 TNF tumor necrosis factor gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:10801288|REF_RGD_ID:14995437 11885058 TNF tumor necrosis factor gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:10801287|PMID:29091898|PMID:31077717|REF_RGD_ID:14975281|REF_RGD_ID:14995435|REF_RGD_ID:15090820 11885058 TNF tumor necrosis factor gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:14686721|PMID:15830285|PMID:29091898|PMID:31342809|PMID:9309314|REF_RGD_ID:10450531|REF_RGD_ID:14995432|REF_RGD_ID:14995485|REF_RGD_ID:15036799|REF_RGD_ID:15090820 11885058 TNF tumor necrosis factor gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:11429 D RGD:9068941 20200702 RGD PMID:27175332|PMID:8168971|REF_RGD_ID:10450561|REF_RGD_ID:32733623 11885058 TNF tumor necrosis factor gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Agranulocytosis PMID:7923933|REF_RGD_ID:10450534 11885058 TNF tumor necrosis factor gene DOID:9007429 Soft Tissue Neoplasms ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16767912|PMID:17203757 11885058 TNF tumor necrosis factor gene DOID:9007480 Hyperoxia ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:8679214|REF_RGD_ID:10449454 11885058 TNF tumor necrosis factor gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:15164724|REF_RGD_ID:1580295 11885058 TNF tumor necrosis factor gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:3876 D RGD:9068941 20200609 RGD associated with Anemia, Hemolytic PMID:12845374|REF_RGD_ID:10449461 11885058 TNF tumor necrosis factor gene DOID:9007588 Heart Injuries ameliorates ISO RGD:11429 D RGD:9068941 20230330 RGD associated with obesity PMID:32084395|REF_RGD_ID:242905211 11885058 TNF tumor necrosis factor gene DOID:9007692 Insulin Resistance ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16493877|PMID:20943792 11885058 TNF tumor necrosis factor gene DOID:9007692 Insulin Resistance ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:16202847|REF_RGD_ID:1580312 11885058 TNF tumor necrosis factor gene DOID:9007692 Insulin Resistance ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:14764603|REF_RGD_ID:1580214 11885058 TNF tumor necrosis factor gene DOID:9007692 Insulin Resistance treatment ISO RGD:3876 D RGD:9068941 20200609 RGD associated with Obesity PMID:25016878|REF_RGD_ID:10450578 11885058 TNF tumor necrosis factor gene DOID:9007692 Insulin Resistance treatment ISO RGD:3876 D RGD:9068941 20200609 RGD associated with obesity PMID:9832430|REF_RGD_ID:14995428 11885058 TNF tumor necrosis factor gene DOID:9007730 Burns ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18277951 11885058 TNF tumor necrosis factor gene DOID:9007730 Burns treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:26152211|REF_RGD_ID:11049530 11885058 TNF tumor necrosis factor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:serum, heart: PMID:24157164|REF_RGD_ID:7387274 11885058 TNF tumor necrosis factor gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:3876 D RGD:9068941 20220929 RGD PMID:31583047|REF_RGD_ID:155230831 11885058 TNF tumor necrosis factor gene DOID:9007964 Arsenic Poisoning ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11885058 TNF tumor necrosis factor gene DOID:9008 psoriatic arthritis ISO RGD:1344192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to PMID:10450718|PMID:11261930|PMID:11506397|PMID:11826025|PMID:11896460|PMID:12485196|PMID:12746914|PMID:12759288|PMID:14681301|PMID:14718719|PMID:16418737|PMID:16720636|PMID:16865291|PMID:16909270|PMID:18050183|PMID:18713756|PMID:19365401|PMID:22760475|PMID:22992668|PMID:8056188|PMID:9818939 11885058 TNF tumor necrosis factor gene DOID:9008 psoriatic arthritis susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP: :-238G>A(rs361525)(human) PMID:9326391|REF_RGD_ID:7394813 11885058 TNF tumor necrosis factor gene DOID:9008443 Colorectal Neoplasms ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23431386 11885058 TNF tumor necrosis factor gene DOID:9008455 High-Frequency Hearing Loss ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:23996384|REF_RGD_ID:7394699 11885058 TNF tumor necrosis factor gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with carcinoma, non-small-cell lung: DNA:SNPs: :rs1799724(human) PMID:20811626|REF_RGD_ID:5131286 11885058 TNF tumor necrosis factor gene DOID:9008614 Cardiovascular Pregnancy Complications ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10716473 11885058 TNF tumor necrosis factor gene DOID:9008680 Respiratory Tract Infections ISO RGD:1344192 D RGD:9068941 20200609 RGD Severe Acute Respiratory Syndrome; protein:increased expression:serum PMID:14633438|REF_RGD_ID:4145665 11885058 TNF tumor necrosis factor gene DOID:9008821 Otitis Media with Effusion ISO RGD:11429 D RGD:9068941 20200609 RGD protein:increased expression:middle ear effusion: PMID:18568516|REF_RGD_ID:7394746 11885058 TNF tumor necrosis factor gene DOID:9008939 Breast Neoplasms ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037|PMID:17516992|PMID:19446661 11885058 TNF tumor necrosis factor gene DOID:9009073 Diaphragmatic Hernia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10541330 11885058 TNF tumor necrosis factor gene DOID:9065 leishmaniasis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16540374 11885058 TNF tumor necrosis factor gene DOID:9074 systemic lupus erythematosus ISO RGD:1344192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to PMID:10450718|PMID:11261930|PMID:11506397|PMID:11826025|PMID:11896460|PMID:12485196|PMID:12746914|PMID:12759288|PMID:14681301|PMID:14718719|PMID:16418737|PMID:16720636|PMID:16865291|PMID:16909270|PMID:18050183|PMID:18713756|PMID:19365401|PMID:22760475|PMID:22992668|PMID:8056188|PMID:9818939 11885058 TNF tumor necrosis factor gene DOID:9111 cutaneous leishmaniasis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20102417 11885058 TNF tumor necrosis factor gene DOID:9111 cutaneous leishmaniasis no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (rs1800629) (human) PMID:16950634|REF_RGD_ID:8548800 11885058 TNF tumor necrosis factor gene DOID:9120 amyloidosis ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid PMID:14613268|REF_RGD_ID:10450570 11885058 TNF tumor necrosis factor gene DOID:9146 visceral leishmaniasis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:15579454|REF_RGD_ID:8548789 11885058 TNF tumor necrosis factor gene DOID:9146 visceral leishmaniasis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1901333|PMID:22461696 11885058 TNF tumor necrosis factor gene DOID:9146 visceral leishmaniasis severity ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:12438370|REF_RGD_ID:8548784 11885058 TNF tumor necrosis factor gene DOID:9155 mucocutaneous leishmaniasis ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (human) PMID:7595196|REF_RGD_ID:8548799 11885058 TNF tumor necrosis factor gene DOID:9279 hyperhomocysteinemia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12615666 11885058 TNF tumor necrosis factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24513509 11885058 TNF tumor necrosis factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:28843383|REF_RGD_ID:14975146 11885058 TNF tumor necrosis factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:20559450|REF_RGD_ID:5130987 11885058 TNF tumor necrosis factor gene DOID:9402 epididymitis ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:29311626|REF_RGD_ID:13792835 11885058 TNF tumor necrosis factor gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:3876 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 11885058 TNF tumor necrosis factor gene DOID:9452 fatty liver disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23348005 11885058 TNF tumor necrosis factor gene DOID:9538 multiple myeloma no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (human) PMID:12815949|REF_RGD_ID:10449453 11885058 TNF tumor necrosis factor gene DOID:9538 multiple myeloma treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-238G>A (human) PMID:12200397|REF_RGD_ID:10449450 11885058 TNF tumor necrosis factor gene DOID:9563 bronchiectasis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17931847 11885058 TNF tumor necrosis factor gene DOID:9563 bronchiectasis severity ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18221721|REF_RGD_ID:12904660 11885058 TNF tumor necrosis factor gene DOID:9588 encephalitis ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:16006567|REF_RGD_ID:5147676 11885058 TNF tumor necrosis factor gene DOID:9675 pulmonary emphysema ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25106431 11885058 TNF tumor necrosis factor gene DOID:9743 diabetic neuropathy treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:23280817|REF_RGD_ID:7401217 11885058 TNF tumor necrosis factor gene DOID:9744 type 1 diabetes mellitus ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23640034 11885058 TNF tumor necrosis factor gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:19120272|REF_RGD_ID:2313253 11885058 TNF tumor necrosis factor gene DOID:9767 myocardial stunning ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11927517 11885058 TNF tumor necrosis factor gene DOID:9784 trichinosis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:19564380|REF_RGD_ID:8548805 11885058 TNF tumor necrosis factor gene DOID:9884 muscular dystrophy ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:10235436|REF_RGD_ID:10449464 11885058 TNF tumor necrosis factor gene DOID:9970 obesity ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11328671|PMID:20141834|PMID:29035695|PMID:9502777 11885058 TNF tumor necrosis factor gene DOID:9970 obesity ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:28843383|REF_RGD_ID:14975146 11885058 TNF tumor necrosis factor gene DOID:9970 obesity treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:24146106|REF_RGD_ID:10450599 11885058 TNF tumor necrosis factor gene DOID:9993 hypoglycemia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8774068 11885058 Tnf tumor necrosis factor gene DOID:9001725 Retina Reperfusion Injury ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:retina: PMID:18660426|REF_RGD_ID:7387281 11885058 Tnf tumor necrosis factor gene DOID:9004283 Transplant Rejection ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:2038191|REF_RGD_ID:7394793 11885073 NLGN2 neuroligin 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:732705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11885073 NLGN2 neuroligin 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:732705 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11885073 NLGN2 neuroligin 2 gene DOID:1059 intellectual disability ISO RGD:732705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11885073 NLGN2 neuroligin 2 gene DOID:11446 sciatic neuropathy ISO RGD:621118 D RGD:9068941 20200609 RGD mRNA:decreased expression:sciatic nerve PMID:17492651|REF_RGD_ID:9831149 11885073 NLGN2 neuroligin 2 gene DOID:12177 common variable immunodeficiency ISO RGD:732705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11885073 NLGN2 neuroligin 2 gene DOID:1824 status epilepticus ISO RGD:621118 D RGD:9068941 20200609 RGD PMID:22539981|REF_RGD_ID:9831126 11885073 NLGN2 neuroligin 2 gene DOID:2729 dyskeratosis congenita ISO RGD:732705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11885073 NLGN2 neuroligin 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:732705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11885073 NLGN2 neuroligin 2 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:732705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 11885073 NLGN2 neuroligin 2 gene DOID:5419 schizophrenia ISO RGD:732706 D RGD:9068941 20220825 MouseDO OMIM:181500 11885073 NLGN2 neuroligin 2 gene DOID:630 genetic disease ISO RGD:732705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11885073 NLGN2 neuroligin 2 gene DOID:9002211 Hyperalgesia ISO RGD:621118 D RGD:9068941 20200609 RGD PMID:23891900|REF_RGD_ID:9831150 11885087 CATSPERD cation channel sperm associated auxiliary subunit delta gene DOID:630 genetic disease ISO RGD:1604493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11885111 GABRB1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:0080428 developmental and epileptic encephalopathy 45 ISO RGD:731063 D RGD:7240710 20190315 OMIM 11885111 GABRB1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:0080428 developmental and epileptic encephalopathy 45 ISO RGD:731063 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 45 PMID:23934111|PMID:25741868|PMID:26950270|PMID:27273810|PMID:28492532|PMID:31618474 11885111 GABRB1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:731063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 11885111 GABRB1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:12849 autistic disorder ISO RGD:731063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16080114|PMID:16770606 11885111 GABRB1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:12849 autistic disorder ISO RGD:731063 D RGD:9068941 20200609 RGD PMID:20066485|REF_RGD_ID:6480253 11885111 GABRB1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:12849 autistic disorder ISO RGD:731063 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2351299, rs4482737, rs3832300(human) PMID:16770606|REF_RGD_ID:6480254 11885111 GABRB1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:13413 hepatic encephalopathy ISO RGD:2649 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:15929193|REF_RGD_ID:6480237 11885111 GABRB1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:13413 hepatic encephalopathy ISO RGD:731063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15929193 11885111 GABRB1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:1826 epilepsy ISO RGD:731063 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11885111 GABRB1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:630 genetic disease ISO RGD:731063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11885128 TNIK TRAF2 and NCK interacting kinase gene DOID:0060071 pre-malignant neoplasm ISO RGD:1561817 D RGD:9068941 20220204 RGD mRNA:increased expression:colon (human) PMID:22242189|REF_RGD_ID:151347836 11885128 TNIK TRAF2 and NCK interacting kinase gene DOID:0080521 lung non-squamous non-small cell carcinoma ameliorates ISO RGD:1346178 D RGD:9068941 20220204 RGD mRNA,protein:increased expression:lung (human) PMID:25250715|REF_RGD_ID:151347838 11885128 TNIK TRAF2 and NCK interacting kinase gene DOID:0081216 autosomal recessive intellectual developmental disorder 54 ISO RGD:1346178 D RGD:7240710 20190315 OMIM 11885128 TNIK TRAF2 and NCK interacting kinase gene DOID:0081216 autosomal recessive intellectual developmental disorder 54 ISO RGD:1346178 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 54 PMID:25741868|PMID:27106596|PMID:28492532 11885128 TNIK TRAF2 and NCK interacting kinase gene DOID:1062 Fanconi syndrome ISO RGD:1346178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 11885128 TNIK TRAF2 and NCK interacting kinase gene DOID:37 skin disease ISO RGD:1346178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11885128 TNIK TRAF2 and NCK interacting kinase gene DOID:630 genetic disease ISO RGD:1346178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11885128 TNIK TRAF2 and NCK interacting kinase gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1346178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11885128 TNIK TRAF2 and NCK interacting kinase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1346178 D RGD:9068941 20220204 RGD protein:increased phosphorylation:liver, nucleus (human) PMID:25160513|REF_RGD_ID:151347837 11885128 TNIK TRAF2 and NCK interacting kinase gene DOID:9007964 Arsenic Poisoning ISO RGD:1346178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11885128 TNIK TRAF2 and NCK interacting kinase gene DOID:9256 colorectal cancer ameliorates ISO RGD:1558507 D RGD:9068941 20220204 RGD PMID:27562646|REF_RGD_ID:151347682 11885128 TNIK TRAF2 and NCK interacting kinase gene DOID:9256 colorectal cancer exacerbates ISO RGD:1346178 D RGD:9068941 20220204 RGD protein:increased expression:colorectum (human) PMID:26499327|REF_RGD_ID:11530847 11885168 ZNF423 zinc finger protein 423 gene DOID:0111122 nephronophthisis 14 ISO RGD:1344492 D RGD:7240710 20180130 OMIM 11885168 ZNF423 zinc finger protein 423 gene DOID:0111122 nephronophthisis 14 ISO RGD:1344492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 19 | ClinVar Annotator: match by term: Nephronophthisis 14 PMID:17576681|PMID:22863007|PMID:25741868|PMID:26539891|PMID:28492532|PMID:30868567|PMID:32723786|PMID:32925911|PMID:9536098 11885168 ZNF423 zinc finger protein 423 gene DOID:2785 Dandy-Walker syndrome ISO RGD:734395 D RGD:9068941 20220825 MouseDO OMIM:220200 11885168 ZNF423 zinc finger protein 423 gene DOID:2786 cerebellar disease ISO RGD:734395 D RGD:9068941 20220825 MouseDO 11885168 ZNF423 zinc finger protein 423 gene DOID:630 genetic disease ISO RGD:1344492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11885168 ZNF423 zinc finger protein 423 gene DOID:670 amphetamine abuse ISO RGD:1344492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11885168 ZNF423 zinc finger protein 423 gene DOID:784 chronic kidney disease ISO RGD:1344492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532|PMID:32723786 11885181 RIOK1 RIO kinase 1 gene DOID:630 genetic disease ISO RGD:1314499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11885198 CUL5 cullin 5 gene DOID:1059 intellectual disability ISO RGD:733947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11885198 CUL5 cullin 5 gene DOID:12704 ataxia telangiectasia ISO RGD:733947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11885198 CUL5 cullin 5 gene DOID:630 genetic disease ISO RGD:733947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11885198 CUL5 cullin 5 gene DOID:9000998 Brain Injuries ISO RGD:621742 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cerebral cortex, hippocampus PMID:17010517|REF_RGD_ID:2301432 11885198 CUL5 cullin 5 gene DOID:9001708 Hemorrhagic Shock ISO RGD:621742 D RGD:9068941 20200609 RGD mRNA:altered expression:brain PMID:12635525|REF_RGD_ID:2301433 11885198 CUL5 cullin 5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11885198 CUL5 cullin 5 gene DOID:9008939 Breast Neoplasms ISO RGD:733947 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20949323 11885227 SMPD3 sphingomyelin phosphodiesterase 3 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1347416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18283525 11885227 SMPD3 sphingomyelin phosphodiesterase 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1347416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11885227 SMPD3 sphingomyelin phosphodiesterase 3 gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:1551964 D RGD:9068941 20220825 MouseDO OMIM:259420 11885227 SMPD3 sphingomyelin phosphodiesterase 3 gene DOID:0110341 osteogenesis imperfecta type 2 ISO RGD:1551964 D RGD:9068941 20220825 MouseDO OMIM:166210 11885227 SMPD3 sphingomyelin phosphodiesterase 3 gene DOID:12347 osteogenesis imperfecta ISO RGD:1551964 D RGD:9068941 20220825 MouseDO 11885227 SMPD3 sphingomyelin phosphodiesterase 3 gene DOID:1240 leukemia ISO RGD:1347416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18283525 11885227 SMPD3 sphingomyelin phosphodiesterase 3 gene DOID:224 transient cerebral ischemia ISO RGD:619754 D RGD:9068941 20200609 RGD PMID:24007266|REF_RGD_ID:9588303 11885227 SMPD3 sphingomyelin phosphodiesterase 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:619754 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:20448054|REF_RGD_ID:10041059 11885227 SMPD3 sphingomyelin phosphodiesterase 3 gene DOID:630 genetic disease ISO RGD:1347416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11885227 SMPD3 sphingomyelin phosphodiesterase 3 gene DOID:6432 pulmonary hypertension treatment ISO RGD:619754 D RGD:9068941 20200609 RGD PMID:19088082|REF_RGD_ID:10042965 11885227 SMPD3 sphingomyelin phosphodiesterase 3 gene DOID:9406 hypopituitarism ISO RGD:1551964 D RGD:9068941 20220825 MouseDO OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 11885227 SMPD3 sphingomyelin phosphodiesterase 3 gene DOID:9675 pulmonary emphysema ISO RGD:1347416 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:20448054|REF_RGD_ID:10041059 11885240 PLIN1 perilipin 1 gene DOID:0050440 familial partial lipodystrophy ISO RGD:733482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11885240 PLIN1 perilipin 1 gene DOID:0070205 familial partial lipodystrophy type 4 ISO RGD:733482 D RGD:7240710 20180912 OMIM 11885240 PLIN1 perilipin 1 gene DOID:0070205 familial partial lipodystrophy type 4 ISO RGD:733482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PLIN1-related familial partial lipodystrophy PMID:21345103|PMID:25114292|PMID:25741868|PMID:28492532|PMID:29747582 11885240 PLIN1 perilipin 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:733482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 11885240 PLIN1 perilipin 1 gene DOID:2717 Bloom syndrome ISO RGD:733482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11885240 PLIN1 perilipin 1 gene DOID:630 genetic disease ISO RGD:733482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11885240 PLIN1 perilipin 1 gene DOID:9256 colorectal cancer ISO RGD:733482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11885240 PLIN1 perilipin 1 gene DOID:9351 diabetes mellitus ISO RGD:733482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:18414213|PMID:25741868|PMID:28492532 11885240 PLIN1 perilipin 1 gene DOID:9970 obesity ISO RGD:733482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15001633 11885240 PLIN1 perilipin 1 gene DOID:9970 obesity susceptibility ISO RGD:733482 D RGD:9068941 20200609 RGD DNA:snp:intron:g.11482G>A (human) PMID:15985482|REF_RGD_ID:1581041 11885240 PLIN1 perilipin 1 gene DOID:9970 obesity susceptibility ISO RGD:736220 D RGD:9068941 20200609 RGD PMID:11371650|REF_RGD_ID:737723 11885253 NIM1K NIM1 serine/threonine protein kinase gene DOID:630 genetic disease ISO RGD:1604515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11885264 ZNF793 zinc finger protein 793 gene DOID:630 genetic disease ISO RGD:1602030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11885264 ZNF793 zinc finger protein 793 gene DOID:9206 Barrett's esophagus ISO RGD:1602030 D RGD:9068941 20200609 RGD DNA:hypermethylation:esophageal squamous epithelium PMID:26545406|REF_RGD_ID:11552890 11885294 SRSF10 serine and arginine rich splicing factor 10 gene DOID:11612 polycystic ovary syndrome ISO RGD:1322327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11885294 SRSF10 serine and arginine rich splicing factor 10 gene DOID:4448 macular degeneration ISO RGD:1322327 D RGD:9068941 20200609 RGD protein:increased expression:retina (human) PMID:24098751|REF_RGD_ID:11038792 11885294 SRSF10 serine and arginine rich splicing factor 10 gene DOID:630 genetic disease ISO RGD:1322327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11885294 SRSF10 serine and arginine rich splicing factor 10 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1322327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21072693 11885294 SRSF10 serine and arginine rich splicing factor 10 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1322327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11885294 SRSF10 serine and arginine rich splicing factor 10 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1322327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21072693 11885327 OTUB2 OTU deubiquitinase, ubiquitin aldehyde binding 2 gene DOID:0080054 achondrogenesis type IA ISO RGD:1315448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11885327 OTUB2 OTU deubiquitinase, ubiquitin aldehyde binding 2 gene DOID:0081063 DICER1 syndrome ISO RGD:1315448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 11885327 OTUB2 OTU deubiquitinase, ubiquitin aldehyde binding 2 gene DOID:630 genetic disease ISO RGD:1315448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11885327 OTUB2 OTU deubiquitinase, ubiquitin aldehyde binding 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315448 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11885337 C1H1orf210 chromosome 1 C1orf210 homolog gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11885337 C1H1orf210 chromosome 1 C1orf210 homolog gene DOID:630 genetic disease ISO RGD:1603568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11885337 C1H1orf210 chromosome 1 C1orf210 homolog gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1305347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11885351 USP20 ubiquitin specific peptidase 20 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1313758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11885351 USP20 ubiquitin specific peptidase 20 gene DOID:630 genetic disease ISO RGD:1313758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11885395 SLA Src like adaptor gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1351693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:12872253|PMID:23996628|PMID:28492532 11885395 SLA Src like adaptor gene DOID:0112187 thyroid dyshormonogenesis 3 ISO RGD:1351693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3 PMID:25741868|PMID:28492532 11885395 SLA Src like adaptor gene DOID:12306 vitiligo ISO RGD:1351693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 11885395 SLA Src like adaptor gene DOID:14264 benign neonatal seizures ISO RGD:1351693 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:28492532|PMID:29383681|PMID:29852413 11885395 SLA Src like adaptor gene DOID:630 genetic disease ISO RGD:1351693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11885395 SLA Src like adaptor gene DOID:7188 autoimmune thyroiditis ISO RGD:1351693 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3 PMID:25741868 11885395 SLA Src like adaptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11885413 PTK2B protein tyrosine kinase 2 beta gene DOID:10283 prostate cancer severity ISO RGD:1346204 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:11204274|REF_RGD_ID:2292571 11885413 PTK2B protein tyrosine kinase 2 beta gene DOID:10652 Alzheimer's disease ISO RGD:1346204 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33589840 11885413 PTK2B protein tyrosine kinase 2 beta gene DOID:10763 hypertension ISO RGD:628758 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:21068519|REF_RGD_ID:10041072 11885413 PTK2B protein tyrosine kinase 2 beta gene DOID:10763 hypertension susceptibility ISO RGD:1346204 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-22A>G PMID:18075463|REF_RGD_ID:2292575 11885413 PTK2B protein tyrosine kinase 2 beta gene DOID:10952 nephritis treatment ISO RGD:628758 D RGD:9068941 20200609 RGD PMID:25176084|REF_RGD_ID:10041073 11885413 PTK2B protein tyrosine kinase 2 beta gene DOID:11713 diabetic angiopathy treatment ISO RGD:628758 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:21926342|REF_RGD_ID:10041069 11885413 PTK2B protein tyrosine kinase 2 beta gene DOID:1612 breast cancer ISO RGD:1346204 D RGD:9068941 20200609 RGD DNA:deletion PMID:16457699|REF_RGD_ID:2292558 11885413 PTK2B protein tyrosine kinase 2 beta gene DOID:1824 status epilepticus ISO RGD:1346204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16600505 11885413 PTK2B protein tyrosine kinase 2 beta gene DOID:1824 status epilepticus ISO RGD:628758 D RGD:9068941 20200609 RGD protein:increased phosphorylation:hippocampus, postsynaptic density PMID:16600505|REF_RGD_ID:1581409 11885413 PTK2B protein tyrosine kinase 2 beta gene DOID:1909 melanoma ISO RGD:1346204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19718025 11885413 PTK2B protein tyrosine kinase 2 beta gene DOID:2316 brain ischemia ISO RGD:628758 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:cerebral cortex PMID:10964954|REF_RGD_ID:1642647 11885413 PTK2B protein tyrosine kinase 2 beta gene DOID:2921 glomerulonephritis ISO RGD:1346204 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus PMID:11774117|REF_RGD_ID:729912 11885413 PTK2B protein tyrosine kinase 2 beta gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:628758 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus PMID:11774117|REF_RGD_ID:729912 11885413 PTK2B protein tyrosine kinase 2 beta gene DOID:630 genetic disease ISO RGD:1346204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11885413 PTK2B protein tyrosine kinase 2 beta gene DOID:9002514 Neointima ISO RGD:628758 D RGD:9068941 20200609 RGD associated with Carotid Artery Injuries PMID:22922962|REF_RGD_ID:10041068 11885413 PTK2B protein tyrosine kinase 2 beta gene DOID:9004009 Reperfusion Injury ISO RGD:628758 D RGD:9068941 20200609 RGD protein:increased phosphorylation:hippocampus PMID:15970382|REF_RGD_ID:1642621 11885413 PTK2B protein tyrosine kinase 2 beta gene DOID:9004464 Skin Neoplasms ISO RGD:1346204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19718025 11885413 PTK2B protein tyrosine kinase 2 beta gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:628758 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression, increased phosphorylation:cardiac muscle cell PMID:12124218|REF_RGD_ID:1642607 11885413 PTK2B protein tyrosine kinase 2 beta gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:628758 D RGD:9068941 20200609 RGD PMID:17537919|REF_RGD_ID:1642610 11885413 PTK2B protein tyrosine kinase 2 beta gene DOID:9007692 Insulin Resistance ISO RGD:733599 D RGD:9068941 20200609 RGD associated with Obesity PMID:16039993|REF_RGD_ID:1642605 11885474 GAS2 growth arrest specific 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1348959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11885474 GAS2 growth arrest specific 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1558248 D RGD:9068941 20220825 MouseDO 11885474 GAS2 growth arrest specific 2 gene DOID:1059 intellectual disability ISO RGD:1348959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11885474 GAS2 growth arrest specific 2 gene DOID:630 genetic disease ISO RGD:1348959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11885474 GAS2 growth arrest specific 2 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1348959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11885509 NOXRED1 NADP dependent oxidoreductase domain containing 1 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1348173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:28492532 11885509 NOXRED1 NADP dependent oxidoreductase domain containing 1 gene DOID:630 genetic disease ISO RGD:1348173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11885526 POU6F2 POU class 6 homeobox 2 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1322006 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 11885526 POU6F2 POU class 6 homeobox 2 gene DOID:12849 autistic disorder ISO RGD:1322006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20663923 11885526 POU6F2 POU class 6 homeobox 2 gene DOID:1921 Klinefelter syndrome ISO RGD:1322006 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 11885526 POU6F2 POU class 6 homeobox 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11885526 POU6F2 POU class 6 homeobox 2 gene DOID:630 genetic disease ISO RGD:1322006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11885526 POU6F2 POU class 6 homeobox 2 gene DOID:9001781 Wilms Tumor 5 ISO RGD:1322006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wilms tumor 5 PMID:11284034|PMID:15459955 11885526 POU6F2 POU class 6 homeobox 2 gene DOID:9001781 Wilms Tumor 5 susceptibility ISO RGD:1322006 D RGD:7240710 20190502 OMIM 11885540 C1QB complement C1q B chain gene DOID:0060369 Parkinson's disease 6 ISO RGD:1346671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11885540 C1QB complement C1q B chain gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1346671 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11885540 C1QB complement C1q B chain gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1346671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11885540 C1QB complement C1q B chain gene DOID:0080600 COVID-19 ISO RGD:1346671 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11885540 C1QB complement C1q B chain gene DOID:10652 Alzheimer's disease ISO RGD:1346671 D RGD:9068941 20200609 RGD mRNA:increased expression:microglial cell PMID:1362796|REF_RGD_ID:1599518 11885540 C1QB complement C1q B chain gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1346671 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 11885540 C1QB complement C1q B chain gene DOID:2986 IgA glomerulonephritis ISO RGD:1346671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 11885540 C1QB complement C1q B chain gene DOID:5082 liver cirrhosis ISO RGD:1346671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 11885540 C1QB complement C1q B chain gene DOID:5119 ovarian cyst ISO RGD:1346671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 11885540 C1QB complement C1q B chain gene DOID:612 primary immunodeficiency disease ISO RGD:1346671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2894352 11885540 C1QB complement C1q B chain gene DOID:630 genetic disease ISO RGD:1346671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11885540 C1QB complement C1q B chain gene DOID:9000039 Spinal Cord Injuries ISO RGD:2229 D RGD:9068941 20200609 RGD mRNA:increased expression PMID:16345062|REF_RGD_ID:1599510 11885540 C1QB complement C1q B chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11885540 C1QB complement C1q B chain gene DOID:9005908 Retrograde Degeneration ISO RGD:2229 D RGD:9068941 20200609 RGD mRNA:increased expression PMID:16934480|REF_RGD_ID:1599508 11885540 C1QB complement C1q B chain gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1346671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11885540 C1QB complement C1q B chain gene DOID:9006341 C1q Deficiency 2 ISO RGD:1346671 D RGD:7240710 20230505 OMIM 11885540 C1QB complement C1q B chain gene DOID:9006341 C1q Deficiency 2 ISO RGD:1346671 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: C1q deficiency 2 PMID:24160257|PMID:2894352 11885540 C1QB complement C1q B chain gene DOID:9007102 Myocardial Ischemia ISO RGD:1346671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11885540 C1QB complement C1q B chain gene DOID:9007516 C1q Deficiency ISO RGD:1346671 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: C1Q deficiency PMID:17513176|PMID:21654842|PMID:25741868|PMID:28492532 11885540 C1QB complement C1q B chain gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1346671 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 11885540 C1QB complement C1q B chain gene DOID:9282 ocular hypertension ISO RGD:1346671 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:16677633|REF_RGD_ID:1599509 11885540 C1QB complement C1q B chain gene DOID:9282 ocular hypertension ISO RGD:2229 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:16677633|REF_RGD_ID:1599509 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:1318721 D RGD:9068941 20210625 RGD protein:decreased expression:colon, nucleus PMID:27184481|REF_RGD_ID:127285648 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1318721 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0070045 Coffin-Siris syndrome 3 ISO RGD:1318721 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 PMID:11161377|PMID:17576681|PMID:22426308|PMID:22726846|PMID:23196062|PMID:23637025|PMID:23906836|PMID:24993163|PMID:25168959|PMID:25169651|PMID:25326635|PMID:25462860|PMID:25741868|PMID:25981829|PMID:26364901|PMID:26987750|PMID:28177878|PMID:28492532|PMID:29230670|PMID:31759698|PMID:33024572|PMID:9536098 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0070045 Coffin-Siris syndrome 3 susceptibility ISO RGD:1318721 D RGD:7240710 20230510 OMIM 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1318721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0080799 sinonasal undifferentiated carcinoma ISO RGD:1318721 D RGD:9068941 20210625 RGD PMID:30120966|REF_RGD_ID:127285653 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0081135 agammaglobulinemia 2 ISO RGD:1318721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1318721 D RGD:9068941 20220414 RGD DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human) PMID:28365909|REF_RGD_ID:151708708 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:1059 intellectual disability ISO RGD:1318721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:1826 epilepsy ISO RGD:1318721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:1925 Coffin-Siris syndrome ISO RGD:1318721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome PMID:10521299|PMID:16199547|PMID:21108436|PMID:21208904|PMID:24933152|PMID:28492532 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:2129 atypical teratoid rhabdoid tumor ISO RGD:1318721 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Malignant rhabdoid tumor, somatic | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 | ClinVar Annotator: match by term: Teratoid tumor, atypical PMID:10521299|PMID:10739763|PMID:12226744|PMID:18414213|PMID:19124645|PMID:21108436|PMID:21208904|PMID:24123847|PMID:24728327|PMID:25741868|PMID:28492532|PMID:28873162|PMID:34308366|PMID:9671307|PMID:9892189 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:2129 atypical teratoid rhabdoid tumor susceptibility ISO RGD:1318721 D RGD:7240710 20230510 OMIM 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:2394 ovarian cancer ISO RGD:1318721 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:3192 neurilemmoma ISO RGD:1318721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schwannoma PMID:18647326|PMID:22434358|PMID:22949514|PMID:24933152|PMID:25741868|PMID:28492532|PMID:29517885 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:3204 neurilemmomatosis ISO RGD:1318721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Schwannomatosis | ClinVar Annotator: match by term: Schwannomatosis 1 | ClinVar Annotator: match by term: Schwannomatosis 1, somatic | ClinVar Annotator: match by term: Schwannomatosis 2 PMID:10521299|PMID:17357086|PMID:18285426|PMID:18414213|PMID:18647326|PMID:19124645|PMID:19582488|PMID:20930055|PMID:21208904|PMID:22038540|PMID:22434358|PMID:22949514|PMID:24728327|PMID:24933152|PMID:25741868|PMID:26073604|PMID:28492532|PMID:29517885 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:3204 neurilemmomatosis susceptibility ISO RGD:1318721 D RGD:7240710 20230510 OMIM 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:3565 meningioma ISO RGD:1318721 D RGD:9068941 20230128 RGD DNA:missense mutation, loss of heterozygosity:cds: c.143C>T (human) PMID:22038540|REF_RGD_ID:155804288 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:3672 rhabdoid cancer ISO RGD:1318721 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25009291|PMID:26343384 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:3672 rhabdoid cancer ISO RGD:1318721 D RGD:9068941 20200609 RGD DNA:nonsense mutation, deletions, insertions:multiple (human) PMID:9671307|REF_RGD_ID:1599055 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:3672 rhabdoid cancer ISO RGD:1318721 D RGD:9068941 20230128 RGD protein:decreased expression:brain, kidney, soft tissue: PMID:16528370|REF_RGD_ID:155804291 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1318721 D RGD:9068941 20230128 RGD mRNA,protein:decreased expression:kidney: PMID:29218250|REF_RGD_ID:155804290 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:5119 ovarian cyst susceptibility ISO RGD:11485 D RGD:9068941 20230128 RGD PMID:29684361|REF_RGD_ID:155804292 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:5419 schizophrenia ISO RGD:1318721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:5485 synovial sarcoma ISO RGD:1318721 D RGD:9068941 20210625 RGD PMID:26520417|REF_RGD_ID:11069485 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:6193 epithelioid sarcoma ISO RGD:1318721 D RGD:9068941 20230128 RGD protein:decreased expression:epithelial cell: PMID:19033866|REF_RGD_ID:155804293 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:630 genetic disease ISO RGD:1318721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18285426|PMID:22726846|PMID:23906836|PMID:25741868|PMID:26364901|PMID:28120103|PMID:28492532 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1318721 D RGD:9068941 20210625 RGD mRNA:decreased expression:liver PMID:27111394|REF_RGD_ID:127285647 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:9001988 Rhabdoid Tumor Predisposition Syndrome 2 ISO RGD:1318721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2 PMID:28492532 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10521299|PMID:11161377|PMID:15769941|PMID:17576681|PMID:18285426|PMID:18414213|PMID:18647326|PMID:18676838|PMID:21108436|PMID:21208904|PMID:22426308|PMID:22434358|PMID:22949514|PMID:23196062|PMID:23637025|PMID:24728327|PMID:24993163|PMID:25168959|PMID:25169651|PMID:25462860|PMID:25741868|PMID:25981829|PMID:26073604|PMID:26987750|PMID:27380723|PMID:28177878|PMID:28365909|PMID:28492532|PMID:28873162|PMID:29230670|PMID:29617669|PMID:29706634|PMID:34308366|PMID:9536098|PMID:9892189 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318721 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10521299|PMID:11161377|PMID:12892231|PMID:15769941|PMID:17576681|PMID:18285426|PMID:18414213|PMID:18647326|PMID:18676838|PMID:21108436|PMID:21208904|PMID:22426308|PMID:22434358|PMID:22949514|PMID:23196062|PMID:23637025|PMID:24728327|PMID:24993163|PMID:25168959|PMID:25169651|PMID:25462860|PMID:25741868|PMID:25981829|PMID:26073604|PMID:26987750|PMID:27380723|PMID:28177878|PMID:28365909|PMID:28492532|PMID:28873162|PMID:29230670|PMID:29617669|PMID:29706634|PMID:32218533|PMID:34308366|PMID:9536098|PMID:9892189 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:9007701 Central Nervous System Neoplasms ISO RGD:1318721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of the central nervous system PMID:25741868 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:1318721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 11885567 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:9008582 Developmental Disease ISO RGD:1318721 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11885598 TMEM256 transmembrane protein 256 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1606934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11885598 TMEM256 transmembrane protein 256 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1606934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 11885598 TMEM256 transmembrane protein 256 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1606934 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11885598 TMEM256 transmembrane protein 256 gene DOID:1059 intellectual disability ISO RGD:1606934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11885598 TMEM256 transmembrane protein 256 gene DOID:12177 common variable immunodeficiency ISO RGD:1606934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11885598 TMEM256 transmembrane protein 256 gene DOID:2729 dyskeratosis congenita ISO RGD:1606934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11885598 TMEM256 transmembrane protein 256 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1606934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11885598 TMEM256 transmembrane protein 256 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1606934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 11885614 SELENOW selenoprotein W gene DOID:1826 epilepsy ISO RGD:737006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19499324 11885614 SELENOW selenoprotein W gene DOID:630 genetic disease ISO RGD:737006 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11885614 SELENOW selenoprotein W gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11885633 PDCD11 programmed cell death 11 gene DOID:630 genetic disease ISO RGD:1354347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11885672 NENF neudesin neurotrophic factor gene DOID:1540 parathyroid carcinoma ISO RGD:1603399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11885672 NENF neudesin neurotrophic factor gene DOID:630 genetic disease ISO RGD:1603399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11885672 NENF neudesin neurotrophic factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11885679 PPIL3 peptidylprolyl isomerase like 3 gene DOID:630 genetic disease ISO RGD:1350391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11885679 PPIL3 peptidylprolyl isomerase like 3 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1350391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 11885679 PPIL3 peptidylprolyl isomerase like 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11885700 LOC100979915 thyroid receptor-interacting protein 6 gene DOID:0081030 central conducting lymphatic anomaly ISO RGD:1347947 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 7 PMID:25741868|PMID:28492532 11885700 LOC100979915 thyroid receptor-interacting protein 6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11885700 LOC100979915 thyroid receptor-interacting protein 6 gene DOID:630 genetic disease ISO RGD:1347947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11885700 LOC100979915 thyroid receptor-interacting protein 6 gene DOID:9002861 Capillary Malformation-Arteriovenous Malformation 2 ISO RGD:1347947 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2 PMID:25741868|PMID:28492532|PMID:28687708 11885735 CREBRF CREB3 regulatory factor gene DOID:0110112 atrial heart septal defect 7 ISO RGD:1603892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 11885735 CREBRF CREB3 regulatory factor gene DOID:630 genetic disease ISO RGD:1603892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11885735 CREBRF CREB3 regulatory factor gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:1603892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 11885755 ENTREP3 endosomal transmembrane epsin interactor 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1314529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11885755 ENTREP3 endosomal transmembrane epsin interactor 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1314529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11885755 ENTREP3 endosomal transmembrane epsin interactor 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11885755 ENTREP3 endosomal transmembrane epsin interactor 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11885755 ENTREP3 endosomal transmembrane epsin interactor 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1314529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11885755 ENTREP3 endosomal transmembrane epsin interactor 3 gene DOID:5812 MHC class II deficiency ISO RGD:1314529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11885755 ENTREP3 endosomal transmembrane epsin interactor 3 gene DOID:630 genetic disease ISO RGD:1314529 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11885755 ENTREP3 endosomal transmembrane epsin interactor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11885771 TAPBP TAP binding protein gene DOID:0050553 JMP syndrome ISO RGD:735382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11885771 TAPBP TAP binding protein gene DOID:0060009 MHC class I deficiency ISO RGD:735382 D RGD:7240710 20180130 OMIM 11885771 TAPBP TAP binding protein gene DOID:0060009 MHC class I deficiency ISO RGD:735382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MHC class I deficiency PMID:12149238|PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 11885771 TAPBP TAP binding protein gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:735382 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 11885771 TAPBP TAP binding protein gene DOID:627 severe combined immunodeficiency ISO RGD:735382 D RGD:9068941 20200609 RGD type I bare lymphocyte syndrome, OMIM:604571 PMID:12149238|REF_RGD_ID:1599296 11885771 TAPBP TAP binding protein gene DOID:630 genetic disease ISO RGD:735382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11885789 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1347407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21317887 11885789 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:0080490 mucolipidosis type IV ISO RGD:1347407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11885789 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1347407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 11885789 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:10283 prostate cancer ISO RGD:1347407 D RGD:9068941 20220922 RGD mRNA:splice variant:exon 2: (human) PMID:32601196|REF_RGD_ID:155230826 11885789 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:10534 stomach cancer ISO RGD:1347407 D RGD:9068941 20220922 RGD mRNA:splice variant:exon 2: (human) PMID:32601196|REF_RGD_ID:155230826 11885789 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:11054 urinary bladder cancer ISO RGD:1347407 D RGD:9068941 20220922 RGD mRNA:splice variant:exon 2: (human) PMID:32601196|REF_RGD_ID:155230826 11885789 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:1107 esophageal carcinoma exacerbates ISO RGD:1347407 D RGD:9068941 20221020 RGD mRNA:decreased expression:espohagus (human) PMID:32831056|REF_RGD_ID:155630592 11885789 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:1612 breast cancer ISO RGD:1347407 D RGD:9068941 20220922 RGD mRNA:splice variant:exon 2: (human) PMID:32601196|REF_RGD_ID:155230826 11885789 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:1612 breast cancer exacerbates ISO RGD:1557151 D RGD:9068941 20220923 RGD PMID:21317887|REF_RGD_ID:155249848 11885789 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:219 colon cancer ISO RGD:1347407 D RGD:9068941 20220922 RGD mRNA:splice variant:exon 2: (human) PMID:32601196|REF_RGD_ID:155230826 11885789 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:234 colon adenocarcinoma ISO RGD:1347407 D RGD:9068941 20221020 RGD human cell line and gene in a mouse model PMID:18436711|REF_RGD_ID:155630593 11885789 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:2596 larynx cancer ameliorates ISO RGD:1347407 D RGD:9068941 20220923 RGD mRNA:increased expression:larynx (human) PMID:32791689|REF_RGD_ID:155256869 11885789 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:3905 lung carcinoma exacerbates ISO RGD:1347407 D RGD:9068941 20220923 RGD DNA:missense mutation:CDS:p.E116K (human) PMID:27028764|REF_RGD_ID:11529413 11885789 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1557151 D RGD:9068941 20220923 RGD mRNA:decreased expression:lung (human) PMID:31089135|REF_RGD_ID:155253742 11885789 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1557151 D RGD:9068941 20220923 RGD PMID:21317887|REF_RGD_ID:155249848 11885789 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1347407 D RGD:9068941 20220922 RGD DNA:SNP:3' utr: (rs3679) (human) PMID:27861856|REF_RGD_ID:155230827 11885789 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1347407 D RGD:9068941 20220922 RGD human gene in a mouse model PMID:34236045|REF_RGD_ID:155230828 11885789 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:5419 schizophrenia ISO RGD:1557151 D RGD:9068941 20220825 MouseDO OMIM:181500 11885789 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:6000 congestive heart failure ISO RGD:1347407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21284947 11885789 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:630 genetic disease ISO RGD:1347407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11885789 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:769 neuroblastoma ISO RGD:1347407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26822237 11885789 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:8634 prostate carcinoma in situ disease_progression ISO RGD:1347407 D RGD:9068941 20200609 RGD protein:increased expression PMID:17577251|REF_RGD_ID:2293334 11885789 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:9000784 Fibrosis ISO RGD:1347407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21284947 11885789 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347407 D RGD:9068941 20200609 RGD protein:increased expression:tumor:increased in high-grade prostatic intraepithelial neoplasias and tumor tissues (p<0.0001) PMID:17577251|REF_RGD_ID:2293334 11885789 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1557151 D RGD:9068941 20200609 RGD protein:increased expression:tumor:increased in high-grade prostatic intraepithelial neoplasias and tumor tissues (p<0.0001) PMID:17577251|REF_RGD_ID:2293334 11885789 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1557151 D RGD:9068941 20200609 RGD expression inhibits metastatic colonization of secondary sites by cancer cells in the AT6.1 model system PMID:16322247|REF_RGD_ID:2293337 11885789 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:9002762 Ovarian Neoplasms no_association ISO RGD:1557151 D RGD:9068941 20200609 RGD expression has no effect on metastatic colonization of secondary sites by cancer cells in the SKOV3ip.1 cell line model system PMID:16489030|REF_RGD_ID:2293338 11885789 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:9005172 Lung Neoplasms ISO RGD:1347407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21317887 11885789 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1347407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21317887 11885789 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:9006618 Liver Metastasis ISO RGD:1347407 D RGD:9068941 20220923 RGD associated with colon cancer;protein:increased expression:colon (human) PMID:24533778|REF_RGD_ID:155259116 11885789 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:9008939 Breast Neoplasms ISO RGD:1347407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21317887 11885809 IFFO2 intermediate filament family orphan 2 gene DOID:0060369 Parkinson's disease 6 ISO RGD:2301100 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11885809 IFFO2 intermediate filament family orphan 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:2301100 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11885809 IFFO2 intermediate filament family orphan 2 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:2301100 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11885809 IFFO2 intermediate filament family orphan 2 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:2301100 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11885809 IFFO2 intermediate filament family orphan 2 gene DOID:630 genetic disease ISO RGD:2301100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11885809 IFFO2 intermediate filament family orphan 2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:2301100 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:0050700 cardiomyopathy ISO RGD:619569 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33171190 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:0060500 drug allergy ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20216337 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29341352 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:619569 D RGD:9068941 20200609 RGD DNA:SNPs:exon:p.Glu1188Val(rs17222723),p.Tyr1515Cys(rs8187710)(human) PMID:18926681|REF_RGD_ID:14700775 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:114 heart disease ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16330681 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:11832 visual epilepsy treatment ISO RGD:2366 D RGD:9068941 20200609 RGD PMID:12663688|REF_RGD_ID:704399 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:12236 primary biliary cholangitis ISO RGD:2366 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:15770136|REF_RGD_ID:14700810 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:12236 primary biliary cholangitis ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15542527 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:12308 Dubin-Johnson syndrome ISO RGD:619569 D RGD:7240710 20180130 OMIM 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:12308 Dubin-Johnson syndrome ISO RGD:619569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dubin-Johnson syndrome PMID:10053008|PMID:10464142|PMID:11266082|PMID:11477083|PMID:11901087|PMID:12388192|PMID:12395335|PMID:12942343|PMID:15180328|PMID:15519273|PMID:15821043|PMID:15870973|PMID:16012956|PMID:16199547|PMID:16549534|PMID:16847695|PMID:16952291|PMID:18334920|PMID:18445995|PMID:18673259|PMID:18974617|PMID:20799350|PMID:20849526|PMID:20981092|PMID:21044052|PMID:21449672|PMID:21691255|PMID:22290738|PMID:22318656|PMID:23557583|PMID:24033266|PMID:25087612|PMID:25111166|PMID:25336012|PMID:25741868|PMID:27604170|PMID:27706244|PMID:27882152|PMID:28492532|PMID:28713894|PMID:29499989|PMID:31544333|PMID:9185779|PMID:9425227|PMID:9878557 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:12308 Dubin-Johnson syndrome susceptibility ISO RGD:619569 D RGD:9068941 20200609 RGD PMID:10053008|REF_RGD_ID:1598616 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:13250 diarrhea ISO RGD:619569 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32387182 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:13580 cholestasis ISO RGD:2366 D RGD:9068941 20200609 RGD PMID:12702498|PMID:16037978|PMID:17009103|REF_RGD_ID:11081011|REF_RGD_ID:1598571|REF_RGD_ID:1598614 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:13580 cholestasis ISO RGD:2366 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:intestine: PMID:15057744|REF_RGD_ID:11081007 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:13580 cholestasis ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10869290|PMID:17681005|PMID:22521610 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:13580 cholestasis disease_progression ISO RGD:619569 D RGD:9068941 20200609 RGD protein:decreased expression:intestine: PMID:15057744|REF_RGD_ID:11081007 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:13580 cholestasis treatment ISO RGD:2366 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:27090119|REF_RGD_ID:15090804 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:1793 pancreatic cancer ISO RGD:619569 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas PMID:19020751|REF_RGD_ID:2317509 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:1824 status epilepticus ISO RGD:2366 D RGD:9068941 20200609 RGD PMID:16504477|REF_RGD_ID:1598613 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:1824 status epilepticus ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16504477 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:2044 drug-induced hepatitis no_association ISO RGD:619569 D RGD:9068941 20200609 RGD DNA:SNPs:multiple: PMID:22178260|REF_RGD_ID:14700817 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:2044 drug-induced hepatitis susceptibility ISO RGD:619569 D RGD:9068941 20200609 RGD DNA:polymorphisms,haplotype:promoter:g.-1774delG,g.-1549G>A(human) PMID:17502832|REF_RGD_ID:14700816 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:619569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:2741 bilirubin metabolic disorder ISO RGD:10368 D RGD:9068941 20200609 RGD PMID:16899240|REF_RGD_ID:1598605 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:2741 bilirubin metabolic disorder ISO RGD:2366 D RGD:9068941 20200609 RGD PMID:16899240|REF_RGD_ID:1598605 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:2741 bilirubin metabolic disorder ISO RGD:2366 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:8662992|REF_RGD_ID:631914 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:2741 bilirubin metabolic disorder ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16611851 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:2741 bilirubin metabolic disorder ISO RGD:619569 D RGD:9068941 20200609 RGD PMID:16899240|REF_RGD_ID:1598605 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:2741 bilirubin metabolic disorder treatment ISO RGD:619569 D RGD:9068941 20200609 RGD PMID:15846474|REF_RGD_ID:11081004 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21206495 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:619569 D RGD:9068941 20200609 RGD DNA:SNPs: :-24C>T, 3972C>T(human) PMID:17534875|REF_RGD_ID:11080964 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:4947 cholangiocarcinoma susceptibility ISO RGD:619569 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:c.3972C>T (human) PMID:19451719|REF_RGD_ID:2317508 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25275603 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:630 genetic disease ISO RGD:619569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:7148 rheumatoid arthritis ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:77 gastrointestinal system disease ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18381794 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:783 end stage renal disease ISO RGD:2366 D RGD:9068941 20200609 RGD PMID:17135344|REF_RGD_ID:2301067 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:619569 D RGD:9068941 20200609 RGD DNA:haploltype: :-24C>T, 1249G>A, 3972C>T(human) PMID:25060527|REF_RGD_ID:11080961 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:863 nervous system disease ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9004486 Drug-induced Neutropenia no_association ISO RGD:619569 D RGD:9068941 20200609 RGD associated with neoplasm;DNA:SNP:rs12762549(human) PMID:23188068|REF_RGD_ID:11080999 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:619569 D RGD:9068941 20200609 RGD associated with neoplasm;DNA:SNP:rs12762549(human) PMID:18294295|REF_RGD_ID:11080980 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9004590 Acute Liver Failure ISO RGD:2366 D RGD:9068941 20200609 RGD PMID:16899240|REF_RGD_ID:1598605 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9004593 Drug-Induced Immune Thrombocytopenia susceptibility ISO RGD:619569 D RGD:9068941 20200609 RGD associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP, haplotype:promoter,cds: 3972C>T, -24C>T(human) PMID:20943283|REF_RGD_ID:11080978 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2366 D RGD:9068941 20200609 RGD mRNA: increased expression: brain PMID:17664251|REF_RGD_ID:2312730 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2366 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:20487213|REF_RGD_ID:11541075 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2366 D RGD:9068941 20200609 RGD protein: increased expression PMID:19356064|REF_RGD_ID:2312728 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9005930 Endotoxemia ISO RGD:2366 D RGD:9068941 20200609 RGD PMID:16572733|REF_RGD_ID:1598611 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:619569 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:20216337|PMID:23222202|PMID:25007187|PMID:32387182 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18381794|PMID:18466103 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:619569 D RGD:9068941 20200609 RGD PMID:25196354|REF_RGD_ID:14700812 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:619569 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-24C>T(human) PMID:17241877|REF_RGD_ID:14700814 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:10368 D RGD:9068941 20200609 RGD protein: increased expression PMID:18189363|REF_RGD_ID:2312726 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2366 D RGD:9068941 20200609 RGD mRNA: decreased expression: liver PMID:15319330|REF_RGD_ID:2312736 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2366 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:25152023|REF_RGD_ID:14700811 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9452 fatty liver disease ISO RGD:2366 D RGD:9068941 20200609 RGD PMID:16139386|REF_RGD_ID:1598602 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:987 alopecia ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18381794 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:619569 D RGD:9068941 20200609 RGD DNA:SNP:5'UTR:rs717620(human) PMID:24404132|REF_RGD_ID:11080959 11885828 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:619569 D RGD:9068941 20200609 RGD DNA:SNPs: :rs717620(human) PMID:25007187|REF_RGD_ID:11080979 11885876 RTTN rotatin gene DOID:0050581 brachydactyly ISO RGD:1315475 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:25741868 11885876 RTTN rotatin gene DOID:0060376 Joubert syndrome with orofaciodigital defect ISO RGD:1315475 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome VI PMID:25741868 11885876 RTTN rotatin gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1315475 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11885876 RTTN rotatin gene DOID:0070297 primary microcephaly ISO RGD:1315475 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:25741868|PMID:26608784 11885876 RTTN rotatin gene DOID:0110986 Joubert Syndrome 17 ISO RGD:1315475 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Joubert syndrome 17 PMID:25741868 11885876 RTTN rotatin gene DOID:1059 intellectual disability ISO RGD:1315475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 11885876 RTTN rotatin gene DOID:10907 microcephaly ISO RGD:1315475 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congenital microcephaly | ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:26608784|PMID:26846091|PMID:28492532 11885876 RTTN rotatin gene DOID:11383 cryptorchidism ISO RGD:1315475 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Unilateral cryptorchidism PMID:25741868 11885876 RTTN rotatin gene DOID:1826 epilepsy ISO RGD:1315475 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Seizures PMID:25741868 11885876 RTTN rotatin gene DOID:630 genetic disease ISO RGD:1315475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11885876 RTTN rotatin gene DOID:6420 pulmonary valve stenosis ISO RGD:1315475 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 11885876 RTTN rotatin gene DOID:8445 intestinal volvulus ISO RGD:1315475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11885876 RTTN rotatin gene DOID:9003865 Microcephaly, Short Stature, and Polymicrogyria with or without Seizures ISO RGD:1315475 D RGD:7240710 20180130 OMIM 11885876 RTTN rotatin gene DOID:9003865 Microcephaly, Short Stature, and Polymicrogyria with or without Seizures ISO RGD:1315475 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES | ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with or without seizures PMID:22939636|PMID:24033266|PMID:25326635|PMID:25741868|PMID:26608784|PMID:26940245|PMID:28492532|PMID:30121372 11885876 RTTN rotatin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11885876 RTTN rotatin gene DOID:9005603 Muscle Hypotonia ISO RGD:1315475 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:25741868 11885876 RTTN rotatin gene DOID:9008419 Volvulus Of Midgut ISO RGD:1315475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11885938 KLHL12 kelch like family member 12 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1346633 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11885938 KLHL12 kelch like family member 12 gene DOID:1540 parathyroid carcinoma ISO RGD:1346633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11885938 KLHL12 kelch like family member 12 gene DOID:630 genetic disease ISO RGD:1346633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11885938 KLHL12 kelch like family member 12 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1346633 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11885938 KLHL12 kelch like family member 12 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11885957 PSMC6 proteasome 26S subunit, ATPase 6 gene DOID:630 genetic disease ISO RGD:1318819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11885975 PSTPIP2 proline-serine-threonine phosphatase interacting protein 2 gene DOID:0060356 Vici syndrome ISO RGD:1352589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 11885975 PSTPIP2 proline-serine-threonine phosphatase interacting protein 2 gene DOID:0060645 chronic recurrent multifocal osteomyelitis ISO RGD:1558463 D RGD:9068941 20230202 MouseDO OMIM:259680 11885975 PSTPIP2 proline-serine-threonine phosphatase interacting protein 2 gene DOID:1059 intellectual disability ISO RGD:1352589 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11885975 PSTPIP2 proline-serine-threonine phosphatase interacting protein 2 gene DOID:13677 SAPHO syndrome ISO RGD:1352589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 11885975 PSTPIP2 proline-serine-threonine phosphatase interacting protein 2 gene DOID:630 genetic disease ISO RGD:1352589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11885975 PSTPIP2 proline-serine-threonine phosphatase interacting protein 2 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1352589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 11885999 FHOD3 formin homology 2 domain containing 3 gene DOID:0050700 cardiomyopathy ISO RGD:1314439 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:24088304|PMID:25741868|PMID:32335906 11885999 FHOD3 formin homology 2 domain containing 3 gene DOID:0110313 hypertrophic cardiomyopathy 7 ISO RGD:1314439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7 PMID:30442288 11885999 FHOD3 formin homology 2 domain containing 3 gene DOID:1059 intellectual disability ISO RGD:1314439 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11885999 FHOD3 formin homology 2 domain containing 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11885999 FHOD3 formin homology 2 domain containing 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314439 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24088304|PMID:25741868 11885999 FHOD3 formin homology 2 domain containing 3 gene DOID:303 substance-related disorder ISO RGD:1314439 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11885999 FHOD3 formin homology 2 domain containing 3 gene DOID:630 genetic disease ISO RGD:1314439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24088304|PMID:25741868 11885999 FHOD3 formin homology 2 domain containing 3 gene DOID:9005789 Hypertrophic Cardiomyopathy 28 ISO RGD:1314439 D RGD:7240710 20210707 OMIM 11885999 FHOD3 formin homology 2 domain containing 3 gene DOID:9005789 Hypertrophic Cardiomyopathy 28 ISO RGD:1314439 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 28 PMID:24088304|PMID:25741868|PMID:30442288|PMID:30898215|PMID:30898216|PMID:31742804|PMID:32335906|PMID:33586461 11886036 DNAAF1 dynein axonemal assembly factor 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1606172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:19944400|PMID:19944405 11886036 DNAAF1 dynein axonemal assembly factor 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1606172 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Situs ambiguus PMID:16199547|PMID:19944400|PMID:19944405|PMID:24033266|PMID:25158045|PMID:25741868|PMID:27884173|PMID:28492532 11886036 DNAAF1 dynein axonemal assembly factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606172 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11886036 DNAAF1 dynein axonemal assembly factor 1 gene DOID:0110618 primary ciliary dyskinesia 13 ISO RGD:1606172 D RGD:7240710 20190315 OMIM 11886036 DNAAF1 dynein axonemal assembly factor 1 gene DOID:0110618 primary ciliary dyskinesia 13 ISO RGD:1606172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 13 PMID:16199547|PMID:19944400|PMID:19944405|PMID:22499950|PMID:23599692|PMID:24033266|PMID:24498942|PMID:25158045|PMID:25741868|PMID:27543293|PMID:27884173|PMID:28492532 11886036 DNAAF1 dynein axonemal assembly factor 1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1606172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 11886036 DNAAF1 dynein axonemal assembly factor 1 gene DOID:630 genetic disease ISO RGD:1606172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11886036 DNAAF1 dynein axonemal assembly factor 1 gene DOID:758 situs inversus ISO RGD:1606172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence PMID:16199547|PMID:19944400|PMID:19944405|PMID:24033266|PMID:25158045|PMID:25741868|PMID:27884173|PMID:28492532 11886036 DNAAF1 dynein axonemal assembly factor 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1606172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:19944400|PMID:19944405|PMID:22499950|PMID:23599692|PMID:24033266|PMID:24307375|PMID:24498942|PMID:25158045|PMID:25741868|PMID:26633542|PMID:27543293|PMID:27884173|PMID:28492532|PMID:28991257|PMID:29228333|PMID:30067075|PMID:9536098 11886052 DDB2 damage specific DNA binding protein 2 gene DOID:0050427 xeroderma pigmentosum ISO RGD:1320906 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:24728327|PMID:25741868|PMID:26580448|PMID:28492532 11886052 DDB2 damage specific DNA binding protein 2 gene DOID:0050427 xeroderma pigmentosum susceptibility ISO RGD:1320906 D RGD:9068941 20200609 RGD DNA:transitions: :p.K244E, p.R273H PMID:8798680|REF_RGD_ID:1601050 11886052 DDB2 damage specific DNA binding protein 2 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1320906 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11886052 DDB2 damage specific DNA binding protein 2 gene DOID:0110846 xeroderma pigmentosum group E ISO RGD:1320906 D RGD:7240710 20180130 OMIM 11886052 DDB2 damage specific DNA binding protein 2 gene DOID:0110846 xeroderma pigmentosum group E ISO RGD:1320906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group E PMID:10469312|PMID:10585395|PMID:12812979|PMID:21107348|PMID:24728327|PMID:25741868|PMID:28492532 11886052 DDB2 damage specific DNA binding protein 2 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1320906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 11886052 DDB2 damage specific DNA binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1320906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11886052 DDB2 damage specific DNA binding protein 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1320906 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 11886052 DDB2 damage specific DNA binding protein 2 gene DOID:2394 ovarian cancer ISO RGD:1320906 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 11886052 DDB2 damage specific DNA binding protein 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1320906 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 PMID:25741868 11886052 DDB2 damage specific DNA binding protein 2 gene DOID:630 genetic disease ISO RGD:1320906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11886070 SEZ6L2 seizure related 6 homolog like 2 gene DOID:0060019 coronin-1A deficiency ISO RGD:1606022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11886070 SEZ6L2 seizure related 6 homolog like 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1606022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 11886070 SEZ6L2 seizure related 6 homolog like 2 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1606022 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 11886070 SEZ6L2 seizure related 6 homolog like 2 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1606022 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 11886070 SEZ6L2 seizure related 6 homolog like 2 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1606022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11886070 SEZ6L2 seizure related 6 homolog like 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1606022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 11886070 SEZ6L2 seizure related 6 homolog like 2 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1606022 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 11886070 SEZ6L2 seizure related 6 homolog like 2 gene DOID:12849 autistic disorder ISO RGD:1606022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11886070 SEZ6L2 seizure related 6 homolog like 2 gene DOID:1882 atrial heart septal defect ISO RGD:1606022 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 11886070 SEZ6L2 seizure related 6 homolog like 2 gene DOID:5419 schizophrenia ISO RGD:1606022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11886070 SEZ6L2 seizure related 6 homolog like 2 gene DOID:630 genetic disease ISO RGD:1606022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886070 SEZ6L2 seizure related 6 homolog like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11886070 SEZ6L2 seizure related 6 homolog like 2 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1606022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11886070 SEZ6L2 seizure related 6 homolog like 2 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1606022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 11886105 SERAC1 serine active site containing 1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1349770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder PMID:24033266 11886105 SERAC1 serine active site containing 1 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1349770 D RGD:7240710 20180130 OMIM 11886105 SERAC1 serine active site containing 1 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1349770 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:16199547|PMID:17576681|PMID:22683713|PMID:23707711|PMID:24033266|PMID:24997715|PMID:25016221|PMID:25741868|PMID:26863999|PMID:27604308|PMID:28482397|PMID:28492532|PMID:28778788|PMID:28916646|PMID:29205472|PMID:31251474|PMID:32005694|PMID:32313153|PMID:33431980|PMID:33613893|PMID:9536098 11886105 SERAC1 serine active site containing 1 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1349770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 11886105 SERAC1 serine active site containing 1 gene DOID:1826 epilepsy ISO RGD:1349770 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11886105 SERAC1 serine active site containing 1 gene DOID:3146 lipid metabolism disorder ISO RGD:1349770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22683713 11886105 SERAC1 serine active site containing 1 gene DOID:543 dystonia ISO RGD:1349770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22683713 11886105 SERAC1 serine active site containing 1 gene DOID:630 genetic disease ISO RGD:1349770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:33431980|PMID:9536098 11886105 SERAC1 serine active site containing 1 gene DOID:9008681 Deafness ISO RGD:1349770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22683713 11886135 LOC100976491 zinc finger protein 468 gene DOID:630 genetic disease ISO RGD:1605315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886145 ADGRG5 adhesion G protein-coupled receptor G5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1313657 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11886145 ADGRG5 adhesion G protein-coupled receptor G5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1313657 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11886145 ADGRG5 adhesion G protein-coupled receptor G5 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1313657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11886145 ADGRG5 adhesion G protein-coupled receptor G5 gene DOID:630 genetic disease ISO RGD:1313657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886166 SLC16A3 solute carrier family 16 member 3 gene DOID:630 genetic disease ISO RGD:731750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886166 SLC16A3 solute carrier family 16 member 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:731750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27224918 11886166 SLC16A3 solute carrier family 16 member 3 gene DOID:9008939 Breast Neoplasms ISO RGD:731750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22313602 11886175 BOC BOC cell adhesion associated, oncogene regulated gene DOID:4621 holoprosencephaly ISO RGD:1605311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28677295 11886175 BOC BOC cell adhesion associated, oncogene regulated gene DOID:630 genetic disease ISO RGD:1605311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886175 BOC BOC cell adhesion associated, oncogene regulated gene DOID:9008443 Colorectal Neoplasms ISO RGD:1605311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 11886175 BOC BOC cell adhesion associated, oncogene regulated gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11886219 CTSZ cathepsin Z gene DOID:0080600 COVID-19 ISO RGD:1352898 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11886219 CTSZ cathepsin Z gene DOID:630 genetic disease ISO RGD:1352898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886219 CTSZ cathepsin Z gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11886219 CTSZ cathepsin Z gene DOID:9005968 Neuralgia ISO RGD:708479 D RGD:9068941 20200609 RGD PMID:18700000|REF_RGD_ID:5686878 11886219 CTSZ cathepsin Z gene DOID:9119 acute myeloid leukemia ISO RGD:1352898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11886229 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:0060017 CD3epsilon deficiency ISO RGD:736397 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11886229 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:736397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11886229 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:0080690 RASopathy ISO RGD:736397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11886229 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:0081330 glycogen storage disease Ib ISO RGD:736397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 11886229 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:0110651 long QT syndrome 10 ISO RGD:736397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11886229 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:736397 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11886229 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:0111971 immunodeficiency 18 ISO RGD:736397 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11886229 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:0111972 immunodeficiency 19 ISO RGD:736397 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11886229 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:0111973 immunodeficiency 17 ISO RGD:736397 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11886229 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:1059 intellectual disability ISO RGD:736397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11886229 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:10754 otitis media ISO RGD:3633 D RGD:9068941 20200609 RGD PMID:12206256|REF_RGD_ID:6484586 11886229 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:11832 visual epilepsy ISO RGD:3633 D RGD:9068941 20200609 RGD Scn2b mRNA levels in hippocampus respond to intraperitoneal kainate, which produces seizures PMID:9672387|REF_RGD_ID:2317305 11886229 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:736397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy 11886229 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:630 genetic disease ISO RGD:736397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886229 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:736397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11886229 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:9004100 Familial Atrial Fibrillation 14 ISO RGD:736397 D RGD:7240710 20180130 OMIM 11886229 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:9004100 Familial Atrial Fibrillation 14 ISO RGD:736397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 PMID:17556197|PMID:17576681|PMID:17623065|PMID:19808477|PMID:23559163|PMID:23861362|PMID:24144883|PMID:25741868|PMID:26220970|PMID:28202948|PMID:28341588|PMID:28492532|PMID:28597987|PMID:30662450|PMID:30821013|PMID:31110529|PMID:34320850|PMID:9536098 11886229 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:9007661 Dwarfism ISO RGD:736397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11886237 ZNF436 zinc finger protein 436 gene DOID:630 genetic disease ISO RGD:1321577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886237 ZNF436 zinc finger protein 436 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1321577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11886249 NOM1 nucleolar protein with MIF4G domain 1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1345070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22474449 11886249 NOM1 nucleolar protein with MIF4G domain 1 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1345070 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:22354285|PMID:22683912|PMID:23370340|PMID:24095820|PMID:28284480|PMID:28492532|PMID:28588853|PMID:29983323|PMID:29992659|PMID:31334757|PMID:32677110 11886249 NOM1 nucleolar protein with MIF4G domain 1 gene DOID:12849 autistic disorder ISO RGD:1345070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11886249 NOM1 nucleolar protein with MIF4G domain 1 gene DOID:630 genetic disease ISO RGD:1345070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886267 KIF21B kinesin family member 21B gene DOID:0050453 lissencephaly ISO RGD:1343896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pachygyria PMID:25741868 11886267 KIF21B kinesin family member 21B gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1343896 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11886267 KIF21B kinesin family member 21B gene DOID:1540 parathyroid carcinoma ISO RGD:1343896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11886267 KIF21B kinesin family member 21B gene DOID:2843 long QT syndrome ISO RGD:1343896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11886267 KIF21B kinesin family member 21B gene DOID:630 genetic disease ISO RGD:1343896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886267 KIF21B kinesin family member 21B gene DOID:8577 ulcerative colitis ISO RGD:1343896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 11886267 KIF21B kinesin family member 21B gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1343896 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11886267 KIF21B kinesin family member 21B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343896 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KIF21B-related Neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32415109 11886267 KIF21B kinesin family member 21B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11886312 AZIN2 antizyme inhibitor 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11886312 AZIN2 antizyme inhibitor 2 gene DOID:630 genetic disease ISO RGD:1606188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886347 KLF1 KLF transcription factor 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1319723 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11886347 KLF1 KLF transcription factor 1 gene DOID:0090016 chromosome 5q deletion syndrome ISO RGD:1319723 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone marrow, blood PMID:22965552|REF_RGD_ID:10769343 11886347 KLF1 KLF transcription factor 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1319723 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11886347 KLF1 KLF transcription factor 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1319723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11825066|PMID:11854167|PMID:16602100|PMID:17576681|PMID:19486177|PMID:25735478|PMID:25741868|PMID:27250579|PMID:28492532|PMID:31536184|PMID:7795610|PMID:9536098 11886347 KLF1 KLF transcription factor 1 gene DOID:0111400 congenital dyserythropoietic anemia type IV ISO RGD:1319723 D RGD:7240710 20191009 OMIM 11886347 KLF1 KLF transcription factor 1 gene DOID:0111400 congenital dyserythropoietic anemia type IV ISO RGD:1319723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia type 4 | ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type IV PMID:11825066|PMID:1659863|PMID:17576681|PMID:21055716|PMID:21778342|PMID:23125034|PMID:23522491|PMID:24033266|PMID:25741868|PMID:27013732|PMID:28102861|PMID:28492532|PMID:29200155|PMID:29300242|PMID:29396846|PMID:31536184|PMID:7795610|PMID:9536098 11886347 KLF1 KLF transcription factor 1 gene DOID:12241 beta thalassemia ISO RGD:1319724 D RGD:9068941 20220825 MouseDO OMIM:187550 | OMIM:603902 | OMIM:613985 11886347 KLF1 KLF transcription factor 1 gene DOID:12971 hereditary spherocytosis ISO RGD:1319724 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.E339D (1065A>T) (human) PMID:20691777|REF_RGD_ID:10769342 11886347 KLF1 KLF transcription factor 1 gene DOID:12971 hereditary spherocytosis ISO RGD:1319724 D RGD:9068941 20220825 MouseDO 11886347 KLF1 KLF transcription factor 1 gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:1319723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11886347 KLF1 KLF transcription factor 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1319723 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone marrow, blood PMID:22965552|REF_RGD_ID:10769343 11886347 KLF1 KLF transcription factor 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1319723 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11886347 KLF1 KLF transcription factor 1 gene DOID:630 genetic disease ISO RGD:1319723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11886347 KLF1 KLF transcription factor 1 gene DOID:74 hematopoietic system disease ISO RGD:1319723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20676099 11886347 KLF1 KLF transcription factor 1 gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1319723 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 PMID:28492532 11886347 KLF1 KLF transcription factor 1 gene DOID:9005515 Therapy-related Acute Myeloid Leukemia ISO RGD:1319723 D RGD:9068941 20200609 RGD PMID:12417757|REF_RGD_ID:10769345 11886347 KLF1 KLF transcription factor 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1319723 D RGD:9068941 20200609 RGD PMID:19097174|REF_RGD_ID:10769344 11886354 ACSL4 acyl-CoA synthetase long chain family member 4 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1344693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability PMID:25741868|PMID:28492532 11886354 ACSL4 acyl-CoA synthetase long chain family member 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1344693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11886354 ACSL4 acyl-CoA synthetase long chain family member 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11886354 ACSL4 acyl-CoA synthetase long chain family member 4 gene DOID:0112050 non-syndromic X-linked intellectual disability 63 ISO RGD:1344693 D RGD:7240710 20180130 OMIM 11886354 ACSL4 acyl-CoA synthetase long chain family member 4 gene DOID:0112050 non-syndromic X-linked intellectual disability 63 ISO RGD:1344693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 63 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 68 PMID:11889465|PMID:12525535|PMID:25741868 11886354 ACSL4 acyl-CoA synthetase long chain family member 4 gene DOID:1059 intellectual disability ISO RGD:1344693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11886354 ACSL4 acyl-CoA synthetase long chain family member 4 gene DOID:12849 autistic disorder ISO RGD:1344693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11886354 ACSL4 acyl-CoA synthetase long chain family member 4 gene DOID:1596 depressive disorder ISO RGD:1344693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108178 11886354 ACSL4 acyl-CoA synthetase long chain family member 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1344693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11886354 ACSL4 acyl-CoA synthetase long chain family member 4 gene DOID:630 genetic disease ISO RGD:1344693 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 11886354 ACSL4 acyl-CoA synthetase long chain family member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1344693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 11886354 ACSL4 acyl-CoA synthetase long chain family member 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11886354 ACSL4 acyl-CoA synthetase long chain family member 4 gene DOID:9002457 Experimental Arthritis ISO RGD:1344693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988084 11886354 ACSL4 acyl-CoA synthetase long chain family member 4 gene DOID:9005372 Inflammation ISO RGD:69401 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:14622223|REF_RGD_ID:2315920 11886354 ACSL4 acyl-CoA synthetase long chain family member 4 gene DOID:9006205 Animal Disease Models ISO RGD:1344693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11886354 ACSL4 acyl-CoA synthetase long chain family member 4 gene DOID:9006976 Erythema ISO RGD:1344693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108178 11886398 HPN hepsin gene DOID:0110222 Brugada syndrome 5 ISO RGD:732957 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11886398 HPN hepsin gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:732957 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11886398 HPN hepsin gene DOID:543 dystonia ISO RGD:732957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11886398 HPN hepsin gene DOID:630 genetic disease ISO RGD:732957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886398 HPN hepsin gene DOID:9002304 Prostatic Neoplasms ISO RGD:732957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15583422|PMID:16783571 11886398 HPN hepsin gene DOID:9455 lipid storage disease ISO RGD:732957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414 11886426 ZC3H11A zinc finger CCCH-type containing 11A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1605103 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11886426 ZC3H11A zinc finger CCCH-type containing 11A gene DOID:1540 parathyroid carcinoma ISO RGD:1605103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11886426 ZC3H11A zinc finger CCCH-type containing 11A gene DOID:630 genetic disease ISO RGD:1605103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886426 ZC3H11A zinc finger CCCH-type containing 11A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1605103 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11886426 ZC3H11A zinc finger CCCH-type containing 11A gene DOID:9008939 Breast Neoplasms ISO RGD:1605103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25038754 11886426 ZC3H11A zinc finger CCCH-type containing 11A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11886449 TSPAN12 tetraspanin 12 gene DOID:0050535 exudative vitreoretinopathy ISO RGD:1322379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial exudative vitreoretinopathy PMID:25250762|PMID:28041643|PMID:28492532 11886449 TSPAN12 tetraspanin 12 gene DOID:0060844 Norrie disease ISO RGD:1322379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrophia bulborum hereditaria PMID:25250762 11886449 TSPAN12 tetraspanin 12 gene DOID:0111408 exudative vitreoretinopathy 5 ISO RGD:1322379 D RGD:7240710 20180130 OMIM 11886449 TSPAN12 tetraspanin 12 gene DOID:0111408 exudative vitreoretinopathy 5 ISO RGD:1322379 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 5 PMID:15665352|PMID:20159111|PMID:20159112|PMID:21334594|PMID:21552475|PMID:22427576|PMID:25250762|PMID:25352738|PMID:25741868|PMID:28002565|PMID:28492532|PMID:28494495|PMID:31106028|PMID:31987760|PMID:34738848 11886449 TSPAN12 tetraspanin 12 gene DOID:308 early myoclonic encephalopathy ISO RGD:1322379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy PMID:28492532 11886449 TSPAN12 tetraspanin 12 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11886449 TSPAN12 tetraspanin 12 gene DOID:630 genetic disease ISO RGD:1322379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11886449 TSPAN12 tetraspanin 12 gene DOID:8501 fundus dystrophy ISO RGD:1322379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17576681|PMID:20159112|PMID:21334594|PMID:28492532|PMID:9536098 11886449 TSPAN12 tetraspanin 12 gene DOID:9002174 Disease Susceptibility ISO RGD:1322379 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20130021 11886449 TSPAN12 tetraspanin 12 gene DOID:9005204 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive ISO RGD:1322379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous, autosomal recessive PMID:25250762 11886470 PROSER3 proline and serine rich 3 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1603570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11886470 PROSER3 proline and serine rich 3 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1603570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11886470 PROSER3 proline and serine rich 3 gene DOID:543 dystonia ISO RGD:1603570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11886470 PROSER3 proline and serine rich 3 gene DOID:630 genetic disease ISO RGD:1603570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886499 ARHGAP21 Rho GTPase activating protein 21 gene DOID:630 genetic disease ISO RGD:1322263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886529 DKK4 dickkopf WNT signaling pathway inhibitor 4 gene DOID:0090039 torsion dystonia 6 ISO RGD:1318528 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 11886529 DKK4 dickkopf WNT signaling pathway inhibitor 4 gene DOID:0111959 immunodeficiency 15B ISO RGD:1318528 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 11886529 DKK4 dickkopf WNT signaling pathway inhibitor 4 gene DOID:630 genetic disease ISO RGD:1318528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886529 DKK4 dickkopf WNT signaling pathway inhibitor 4 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1318528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 11886538 S100A4 S100 calcium binding protein A4 gene DOID:0050902 medulloblastoma ISO RGD:69040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17579622 11886538 S100A4 S100 calcium binding protein A4 gene DOID:0111940 immunodeficiency 42 ISO RGD:69040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11886538 S100A4 S100 calcium binding protein A4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:69040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11886538 S100A4 S100 calcium binding protein A4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:69040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11886538 S100A4 S100 calcium binding protein A4 gene DOID:11394 adult respiratory distress syndrome ISO RGD:69040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 11886538 S100A4 S100 calcium binding protein A4 gene DOID:11664 nephrosclerosis ISO RGD:69040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 11886538 S100A4 S100 calcium binding protein A4 gene DOID:13100 intracranial vasospasm ISO RGD:69040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12186470 11886538 S100A4 S100 calcium binding protein A4 gene DOID:1540 parathyroid carcinoma ISO RGD:69040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11886538 S100A4 S100 calcium binding protein A4 gene DOID:1909 melanoma ISO RGD:69040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29179997 11886538 S100A4 S100 calcium binding protein A4 gene DOID:326 ischemia ISO RGD:69040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19458120 11886538 S100A4 S100 calcium binding protein A4 gene DOID:5812 MHC class II deficiency ISO RGD:69040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11886538 S100A4 S100 calcium binding protein A4 gene DOID:630 genetic disease ISO RGD:69040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886538 S100A4 S100 calcium binding protein A4 gene DOID:8398 osteoarthritis ISO RGD:69040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16948116 11886538 S100A4 S100 calcium binding protein A4 gene DOID:9000058 Keloid ISO RGD:69040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 11886538 S100A4 S100 calcium binding protein A4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:69040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21636539|PMID:21685359 11886538 S100A4 S100 calcium binding protein A4 gene DOID:9002928 Colonic Neoplasms ISO RGD:69040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21685359 11886538 S100A4 S100 calcium binding protein A4 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:69040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 11886538 S100A4 S100 calcium binding protein A4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:69040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11886548 ST6GALNAC2 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 gene DOID:2986 IgA glomerulonephritis ISO RGD:1343813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17480010 11886548 ST6GALNAC2 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 gene DOID:630 genetic disease ISO RGD:1343813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886561 ITGAD integrin subunit alpha D gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:731798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11886561 ITGAD integrin subunit alpha D gene DOID:10283 prostate cancer ISO RGD:731798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11886561 ITGAD integrin subunit alpha D gene DOID:630 genetic disease ISO RGD:731798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886600 TRIM35 tripartite motif containing 35 gene DOID:630 genetic disease ISO RGD:1344257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886615 DDI1 DNA damage inducible 1 homolog 1 gene DOID:1059 intellectual disability ISO RGD:1604424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11886615 DDI1 DNA damage inducible 1 homolog 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1604424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11886615 DDI1 DNA damage inducible 1 homolog 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1604424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 11886615 DDI1 DNA damage inducible 1 homolog 1 gene DOID:630 genetic disease ISO RGD:1604424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886621 ALDH1A1 aldehyde dehydrogenase 1 family member A1 gene DOID:0060041 autism spectrum disorder ISO RGD:736747 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11886621 ALDH1A1 aldehyde dehydrogenase 1 family member A1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:736747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29718361 11886621 ALDH1A1 aldehyde dehydrogenase 1 family member A1 gene DOID:0080855 Parkinsonism ISO RGD:736747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25045800 11886621 ALDH1A1 aldehyde dehydrogenase 1 family member A1 gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:736747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23349890 11886621 ALDH1A1 aldehyde dehydrogenase 1 family member A1 gene DOID:1793 pancreatic cancer ISO RGD:736747 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:19216797|REF_RGD_ID:2325688 11886621 ALDH1A1 aldehyde dehydrogenase 1 family member A1 gene DOID:1909 melanoma ISO RGD:736747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31580832 11886621 ALDH1A1 aldehyde dehydrogenase 1 family member A1 gene DOID:409 liver disease ISO RGD:736747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31651977 11886621 ALDH1A1 aldehyde dehydrogenase 1 family member A1 gene DOID:4450 renal cell carcinoma ISO RGD:736747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 11886621 ALDH1A1 aldehyde dehydrogenase 1 family member A1 gene DOID:630 genetic disease ISO RGD:736747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886621 ALDH1A1 aldehyde dehydrogenase 1 family member A1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 11886621 ALDH1A1 aldehyde dehydrogenase 1 family member A1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:736747 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26783756|PMID:29626521 11886640 TSSC4 tumor suppressing subtransferable candidate 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11886640 TSSC4 tumor suppressing subtransferable candidate 4 gene DOID:0080773 delta beta-thalassemia ISO RGD:1316004 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11886640 TSSC4 tumor suppressing subtransferable candidate 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11886640 TSSC4 tumor suppressing subtransferable candidate 4 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1316004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11886640 TSSC4 tumor suppressing subtransferable candidate 4 gene DOID:630 genetic disease ISO RGD:1316004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886640 TSSC4 tumor suppressing subtransferable candidate 4 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1316004 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11886650 DENND6A DENN domain containing 6A gene DOID:13938 amenorrhea ISO RGD:1606682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11886650 DENND6A DENN domain containing 6A gene DOID:630 genetic disease ISO RGD:1606682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886650 DENND6A DENN domain containing 6A gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1606682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 11886683 DDX21 DExD-box helicase 21 gene DOID:630 genetic disease ISO RGD:1312763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886702 MST1 macrophage stimulating 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 11886702 MST1 macrophage stimulating 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 11886702 MST1 macrophage stimulating 1 gene DOID:14268 sclerosing cholangitis ISO RGD:736655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21151127 11886702 MST1 macrophage stimulating 1 gene DOID:630 genetic disease ISO RGD:736655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886702 MST1 macrophage stimulating 1 gene DOID:8577 ulcerative colitis ISO RGD:736655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438406|PMID:20228799 11886702 MST1 macrophage stimulating 1 gene DOID:8778 Crohn's disease ISO RGD:736655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438406 11886702 MST1 macrophage stimulating 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 11886702 MST1 macrophage stimulating 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:736655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11886702 MST1 macrophage stimulating 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11886702 MST1 macrophage stimulating 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 11886759 LOC100971690 glyoxalase domain-containing protein 4 gene DOID:630 genetic disease ISO RGD:1315949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886772 CTSV cathepsin V gene DOID:1059 intellectual disability ISO RGD:1344069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11886772 CTSV cathepsin V gene DOID:630 genetic disease ISO RGD:1344069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886790 CCDC32 coiled-coil domain containing 32 gene DOID:2717 Bloom syndrome ISO RGD:1605016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11886790 CCDC32 coiled-coil domain containing 32 gene DOID:9007327 Cardiofacioneurodevelopmental Syndrome ISO RGD:1605016 D RGD:7240710 20201230 OMIM 11886790 CCDC32 coiled-coil domain containing 32 gene DOID:9007327 Cardiofacioneurodevelopmental Syndrome ISO RGD:1605016 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiofacioneurodevelopmental syndrome PMID:25741868|PMID:32307552|PMID:35451546 11886790 CCDC32 coiled-coil domain containing 32 gene DOID:9256 colorectal cancer ISO RGD:1605016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11886815 ARX aristaless related homeobox gene DOID:0050453 lissencephaly ISO RGD:1557424 D RGD:9068941 20220825 MouseDO OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 11886815 ARX aristaless related homeobox gene DOID:0050562 West syndrome ISO RGD:1557424 D RGD:9068941 20200609 RGD PMID:19439424|REF_RGD_ID:11565833 11886815 ARX aristaless related homeobox gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1557424 D RGD:9068941 20220825 MouseDO OMIM:300088 | OMIM:300607 | OMIM:300672 | OMIM:308350 | OMIM:609304 | OMIM:612164 | OMIM:613402 | OMIM:613477 | OMIM:613720 | OMIM:613721 | OMIM:613722 | OMIM:614558 | OMIM:614959 | OMIM:615006 | OMIM:615338 | OMIM:615473 | OMIM:615476 11886815 ARX aristaless related homeobox gene DOID:0060309 syndromic X-linked intellectual disability ISO RGD:1557424 D RGD:9068941 20220825 MouseDO 11886815 ARX aristaless related homeobox gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11886815 ARX aristaless related homeobox gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1344380 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P353L (human) PMID:12177367|REF_RGD_ID:11565831 11886815 ARX aristaless related homeobox gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1557424 D RGD:9068941 20200609 RGD PMID:19605412|REF_RGD_ID:11565840 11886815 ARX aristaless related homeobox gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1344380 D RGD:7240710 20180130 OMIM 11886815 ARX aristaless related homeobox gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1344380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome PMID:10353782|PMID:10398246|PMID:11889467|PMID:11971879|PMID:12116222|PMID:12177367|PMID:12376938|PMID:12376946|PMID:12376949|PMID:12379852|PMID:12640086|PMID:12874418|PMID:14722918|PMID:15151512|PMID:15200506|PMID:15726411|PMID:15850492|PMID:16078051|PMID:16199547|PMID:16235064|PMID:16523516|PMID:16995578|PMID:17331656|PMID:17480217|PMID:17490853|PMID:17576681|PMID:17641262|PMID:17664401|PMID:17668384|PMID:18414213|PMID:18462864|PMID:19439424|PMID:19507262|PMID:19606478|PMID:19738637|PMID:20148114|PMID:20300201|PMID:20506206|PMID:2080994|PMID:21108397|PMID:21204215|PMID:21204226|PMID:21496008|PMID:22252899|PMID:22922607|PMID:23039062|PMID:23246292|PMID:23757202|PMID:24643514|PMID:24781210|PMID:25741868|PMID:26029707|PMID:26337422|PMID:26467025|PMID:28174645|PMID:28387369|PMID:28492532|PMID:29152528|PMID:29778428|PMID:30108342|PMID:30255221|PMID:31623504|PMID:31691806|PMID:3177452|PMID:32139178|PMID:32313153|PMID:32383243|PMID:32613771|PMID:33951346|PMID:5008734|PMID:8826464|PMID:9536098 11886815 ARX aristaless related homeobox gene DOID:0112021 non-syndromic X-linked intellectual disability ARX-related ISO RGD:1344380 D RGD:7240710 20180130 OMIM 11886815 ARX aristaless related homeobox gene DOID:0112021 non-syndromic X-linked intellectual disability ARX-related ISO RGD:1344380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 29 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 87 | ClinVar Annotator: match by term: Mental retardation, X-linked 52 PMID:10353782|PMID:10398246|PMID:11889467|PMID:11971879|PMID:12116222|PMID:12376938|PMID:12376946|PMID:12376949|PMID:12379852|PMID:12640086|PMID:14722918|PMID:15151512|PMID:15200506|PMID:15850492|PMID:16078051|PMID:16235064|PMID:17331656|PMID:17480217|PMID:17641262|PMID:18414213|PMID:19439424|PMID:19738637|PMID:20300201|PMID:20506206|PMID:2080994|PMID:21204215|PMID:21204226|PMID:21496008|PMID:25741868|PMID:26029707|PMID:28150386|PMID:28492532|PMID:30255221|PMID:3177452|PMID:32383243|PMID:32519823|PMID:33847015|PMID:5008734|PMID:8826464 11886815 ARX aristaless related homeobox gene DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome ISO RGD:1344380 D RGD:7240710 20180130 OMIM 11886815 ARX aristaless related homeobox gene DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome ISO RGD:1344380 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Corpus callosum agenesis-abnormal genitalia syndrome PMID:14722918|PMID:1605226|PMID:18414213|PMID:22252899|PMID:25741868|PMID:34298581 11886815 ARX aristaless related homeobox gene DOID:0112238 X-linked lissencephaly 2 ISO RGD:1344380 D RGD:7240710 20180130 OMIM 11886815 ARX aristaless related homeobox gene DOID:0112238 X-linked lissencephaly 2 ISO RGD:1344380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydranencephaly with abnormal genitalia | ClinVar Annotator: match by term: X-linked lissencephaly with abnormal genitalia PMID:11889467|PMID:11891829|PMID:12379852|PMID:12874405|PMID:12874418|PMID:14722918|PMID:17664401|PMID:18414213|PMID:18462864|PMID:19439424|PMID:19738637|PMID:20300201|PMID:22252899|PMID:22922607|PMID:23246292|PMID:23757202|PMID:24781210|PMID:25741868|PMID:26029707|PMID:28492532|PMID:32139178 11886815 ARX aristaless related homeobox gene DOID:1059 intellectual disability ISO RGD:1344380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:14722918|PMID:18414213|PMID:25741868|PMID:28492532 11886815 ARX aristaless related homeobox gene DOID:10908 hydrocephalus ISO RGD:1344380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868 11886815 ARX aristaless related homeobox gene DOID:12849 autistic disorder ISO RGD:1344380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11886815 ARX aristaless related homeobox gene DOID:14744 Partington syndrome ISO RGD:1344380 D RGD:7240710 20180130 OMIM 11886815 ARX aristaless related homeobox gene DOID:14744 Partington syndrome ISO RGD:1344380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Partington syndrome | ClinVar Annotator: match by term: X-linked spasticity-intellectual disability-epilepsy syndrome PMID:10353782|PMID:10398246|PMID:11889467|PMID:11971879|PMID:12116222|PMID:12376938|PMID:12376946|PMID:12376949|PMID:12640086|PMID:15151512|PMID:15200506|PMID:15850492|PMID:16078051|PMID:16235064|PMID:17331656|PMID:17480217|PMID:20506206|PMID:2080994|PMID:21204215|PMID:25741868|PMID:26029707|PMID:28492532|PMID:3177452|PMID:5008734|PMID:8826464 11886815 ARX aristaless related homeobox gene DOID:1826 epilepsy ISO RGD:1344380 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11886815 ARX aristaless related homeobox gene DOID:630 genetic disease ISO RGD:1344380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14722918|PMID:15248097|PMID:16235064|PMID:16523516|PMID:17331656|PMID:17641262|PMID:18414213|PMID:18462864|PMID:20384723|PMID:20506206|PMID:21204215|PMID:21204226|PMID:21426321|PMID:21496008|PMID:23039062|PMID:25741868|PMID:26029707|PMID:26467025|PMID:28492532 11886815 ARX aristaless related homeobox gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1344380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:25741868 11886815 ARX aristaless related homeobox gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11886815 ARX aristaless related homeobox gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1344380 D RGD:9068941 20200609 RGD DNA:duplication:exon:c.428-451dup (human) PMID:15850492|REF_RGD_ID:11565836 11886815 ARX aristaless related homeobox gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1344380 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L33P (human) PMID:11971879|REF_RGD_ID:1599257 11886815 ARX aristaless related homeobox gene DOID:9009131 Ventriculomegaly ISO RGD:1344380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868 11886815 ARX aristaless related homeobox gene DOID:9352 type 2 diabetes mellitus ISO RGD:1562672 D RGD:9068941 20200609 RGD PMID:16772326|REF_RGD_ID:1599258 11886833 LOC100979458 keratin-associated protein 4-11 gene DOID:630 genetic disease ISO RGD:1342775 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886845 CLDN11 claudin 11 gene DOID:1062 Fanconi syndrome ISO RGD:732844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 11886845 CLDN11 claudin 11 gene DOID:2377 multiple sclerosis ISO RGD:732844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25911099 11886845 CLDN11 claudin 11 gene DOID:630 genetic disease ISO RGD:732844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886845 CLDN11 claudin 11 gene DOID:9000735 Hypomyelinating Leukodystrophy 22 ISO RGD:732844 D RGD:7240710 20210526 OMIM 11886845 CLDN11 claudin 11 gene DOID:9000735 Hypomyelinating Leukodystrophy 22 ISO RGD:732844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 22 PMID:33313762 11886845 CLDN11 claudin 11 gene DOID:9006205 Animal Disease Models ISO RGD:732844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25911099 11886845 CLDN11 claudin 11 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:732844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11886855 BRPF3 bromodomain and PHD finger containing 3 gene DOID:0050553 JMP syndrome ISO RGD:1315730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11886855 BRPF3 bromodomain and PHD finger containing 3 gene DOID:630 genetic disease ISO RGD:1315730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886885 SRARP steroid receptor associated and regulated protein gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603359 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11886915 F13B coagulation factor XIII B chain gene DOID:0110358 retinitis pigmentosa 12 ISO RGD:1323246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 12 PMID:10508521|PMID:17964524|PMID:22065545|PMID:23379534|PMID:25412400|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521 11886915 F13B coagulation factor XIII B chain gene DOID:1540 parathyroid carcinoma ISO RGD:1323246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11886915 F13B coagulation factor XIII B chain gene DOID:2211 factor XIII deficiency ISO RGD:1323246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary factor XIII deficiency disease PMID:22353194|PMID:25044882|PMID:25741868|PMID:28399723|PMID:28748566 11886915 F13B coagulation factor XIII B chain gene DOID:630 genetic disease ISO RGD:1323246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886915 F13B coagulation factor XIII B chain gene DOID:869 cholesteatoma ISO RGD:1323246 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cholesteatoma 11886915 F13B coagulation factor XIII B chain gene DOID:9003871 Venous Thrombosis ISO RGD:1323246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Venous thrombosis, susceptibility to PMID:12456499|PMID:16241947|PMID:25741868 11886915 F13B coagulation factor XIII B chain gene DOID:9008281 Factor XIII, B Subunit, Deficiency Of ISO RGD:1323246 D RGD:7240710 20180130 OMIM 11886915 F13B coagulation factor XIII B chain gene DOID:9008281 Factor XIII, B Subunit, Deficiency Of ISO RGD:1323246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Factor XIII, b subunit, deficiency of PMID:11313256|PMID:12456499|PMID:14695539|PMID:16241947|PMID:20331752|PMID:22353194|PMID:2334637|PMID:25044882|PMID:25741868|PMID:28399723|PMID:28492532|PMID:28748566|PMID:31064749|PMID:34355501|PMID:8324218|PMID:8639893 11886915 F13B coagulation factor XIII B chain gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11886931 SHISA6 shisa family member 6 gene DOID:630 genetic disease ISO RGD:1602039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886950 MMP15 matrix metallopeptidase 15 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318995 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11886950 MMP15 matrix metallopeptidase 15 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318995 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11886950 MMP15 matrix metallopeptidase 15 gene DOID:10283 prostate cancer disease_progression ISO RGD:1318995 D RGD:9068941 20200609 RGD PMID:15928670|REF_RGD_ID:2290417 11886950 MMP15 matrix metallopeptidase 15 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1318995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11886950 MMP15 matrix metallopeptidase 15 gene DOID:2671 transitional cell carcinoma ISO RGD:1318995 D RGD:9068941 20200609 RGD PMID:9751409|REF_RGD_ID:2314950 11886950 MMP15 matrix metallopeptidase 15 gene DOID:630 genetic disease ISO RGD:1318995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886950 MMP15 matrix metallopeptidase 15 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318995 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11886950 MMP15 matrix metallopeptidase 15 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:1308937 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19595018|REF_RGD_ID:2314952 11886950 MMP15 matrix metallopeptidase 15 gene DOID:9003281 Spontaneous Abortions ISO RGD:1318995 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11886950 MMP15 matrix metallopeptidase 15 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1318996 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:15895410|REF_RGD_ID:2314949 11886965 UBA3 ubiquitin like modifier activating enzyme 3 gene DOID:630 genetic disease ISO RGD:737348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11886991 PJA1 praja ring finger ubiquitin ligase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11886991 PJA1 praja ring finger ubiquitin ligase 1 gene DOID:12849 autistic disorder ISO RGD:1353522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11886991 PJA1 praja ring finger ubiquitin ligase 1 gene DOID:14737 craniofrontonasal syndrome ISO RGD:1353522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17941886 11886991 PJA1 praja ring finger ubiquitin ligase 1 gene DOID:630 genetic disease ISO RGD:1353522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11887007 TMEM219 transmembrane protein 219 gene DOID:0060019 coronin-1A deficiency ISO RGD:1604542 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11887007 TMEM219 transmembrane protein 219 gene DOID:0060041 autism spectrum disorder ISO RGD:1604542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 11887007 TMEM219 transmembrane protein 219 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1604542 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 11887007 TMEM219 transmembrane protein 219 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1604542 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 11887007 TMEM219 transmembrane protein 219 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1604542 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11887007 TMEM219 transmembrane protein 219 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1604542 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 11887007 TMEM219 transmembrane protein 219 gene DOID:12849 autistic disorder ISO RGD:1604542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11887007 TMEM219 transmembrane protein 219 gene DOID:1882 atrial heart septal defect ISO RGD:1604542 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 11887007 TMEM219 transmembrane protein 219 gene DOID:5419 schizophrenia ISO RGD:1604542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11887007 TMEM219 transmembrane protein 219 gene DOID:630 genetic disease ISO RGD:1604542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11887007 TMEM219 transmembrane protein 219 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11887007 TMEM219 transmembrane protein 219 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1604542 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11887007 TMEM219 transmembrane protein 219 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1604542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 11887022 TCF15 transcription factor 15 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:1318246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:20206331|PMID:22824638|PMID:24239381|PMID:25462087|PMID:28492532 11887022 TCF15 transcription factor 15 gene DOID:11612 polycystic ovary syndrome ISO RGD:1318246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11887022 TCF15 transcription factor 15 gene DOID:630 genetic disease ISO RGD:1318246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11887022 TCF15 transcription factor 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11887022 TCF15 transcription factor 15 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:1318246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency PMID:28492532 11887027 CCDC121 coiled-coil domain containing 121 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1603009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11887027 CCDC121 coiled-coil domain containing 121 gene DOID:630 genetic disease ISO RGD:1603009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11887039 AURKA aurora kinase A gene DOID:0080600 COVID-19 ISO RGD:1353168 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11887039 AURKA aurora kinase A gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1353168 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:urinary bladder PMID:18485461|REF_RGD_ID:2293871 11887039 AURKA aurora kinase A gene DOID:1909 melanoma ISO RGD:1353168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11887039 AURKA aurora kinase A gene DOID:2152 ovary epithelial cancer disease_progression ISO RGD:1353168 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ovary PMID:18314619|REF_RGD_ID:2293872 11887039 AURKA aurora kinase A gene DOID:219 colon cancer ISO RGD:1353168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon cancer, susceptibility to PMID:10511710|PMID:12881723|PMID:9771714 11887039 AURKA aurora kinase A gene DOID:2394 ovarian cancer susceptibility ISO RGD:1353168 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.F31I PMID:15466974|REF_RGD_ID:2293884 11887039 AURKA aurora kinase A gene DOID:2871 endometrial carcinoma ISO RGD:1353168 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:endometrium PMID:16311121|REF_RGD_ID:2293878 11887039 AURKA aurora kinase A gene DOID:3008 invasive ductal carcinoma ISO RGD:1353168 D RGD:9068941 20200609 RGD protein:altered expression PMID:14693746|REF_RGD_ID:1643348 11887039 AURKA aurora kinase A gene DOID:363 uterine cancer susceptibility ISO RGD:1353168 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.F31I PMID:17599395|REF_RGD_ID:2293873 11887039 AURKA aurora kinase A gene DOID:4450 renal cell carcinoma ISO RGD:1353168 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:17349527|REF_RGD_ID:1643346 11887039 AURKA aurora kinase A gene DOID:574 peripheral nervous system disease ISO RGD:1353168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 11887039 AURKA aurora kinase A gene DOID:630 genetic disease ISO RGD:1353168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11887039 AURKA aurora kinase A gene DOID:684 hepatocellular carcinoma ISO RGD:1353168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11887039 AURKA aurora kinase A gene DOID:769 neuroblastoma ISO RGD:1353168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22588779 11887039 AURKA aurora kinase A gene DOID:8634 prostate carcinoma in situ ISO RGD:1353168 D RGD:9068941 20200609 RGD PMID:16707419|REF_RGD_ID:2293877 11887039 AURKA aurora kinase A gene DOID:8634 prostate carcinoma in situ ISO RGD:1353168 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:15754349|REF_RGD_ID:2293883 11887039 AURKA aurora kinase A gene DOID:9002265 Kidney Neoplasms ISO RGD:1353168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18497064 11887039 AURKA aurora kinase A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17898866 11887039 AURKA aurora kinase A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353168 D RGD:9068941 20200609 RGD PMID:16707419|REF_RGD_ID:2293877 11887039 AURKA aurora kinase A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353168 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:15754349|REF_RGD_ID:2293883 11887039 AURKA aurora kinase A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1552819 D RGD:9068941 20200609 RGD PMID:16707419|REF_RGD_ID:2293877 11887039 AURKA aurora kinase A gene DOID:9003882 Chromosomal Instability ISO RGD:1353168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24976383 11887039 AURKA aurora kinase A gene DOID:9004017 Chronic Hepatitis C ISO RGD:1353168 D RGD:9068941 20200626 RGD mRNA:increased expression:CD19+Bcell: PMID:20189883|REF_RGD_ID:32716380 11887039 AURKA aurora kinase A gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:1353168 D RGD:9068941 20200609 RGD PMID:17465238|REF_RGD_ID:2293874 11887039 AURKA aurora kinase A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1353168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12124350 11887039 AURKA aurora kinase A gene DOID:9008443 Colorectal Neoplasms ISO RGD:1353168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24976383 11887039 AURKA aurora kinase A gene DOID:9008692 Aneuploidy ISO RGD:1353168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24976383 11887039 AURKA aurora kinase A gene DOID:9008939 Breast Neoplasms ISO RGD:1353168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18497064 11887039 AURKA aurora kinase A gene DOID:9256 colorectal cancer susceptibility ISO RGD:1353168 D RGD:7240710 20230505 OMIM 11887039 AURKA aurora kinase A gene DOID:9538 multiple myeloma ISO RGD:1353168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11887062 HAS1 hyaluronan synthase 1 gene DOID:2661 myoepithelioma ISO RGD:1343910 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11887062 HAS1 hyaluronan synthase 1 gene DOID:399 tuberculosis ISO RGD:1552209 D RGD:9068941 20200609 RGD PMID:19876387|REF_RGD_ID:9588638 11887062 HAS1 hyaluronan synthase 1 gene DOID:630 genetic disease ISO RGD:1343910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11887062 HAS1 hyaluronan synthase 1 gene DOID:6432 pulmonary hypertension ISO RGD:708528 D RGD:9068941 20200609 RGD PMID:19915162|REF_RGD_ID:9588633 11887062 HAS1 hyaluronan synthase 1 gene DOID:9003936 Cardiomegaly ISO RGD:708528 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:18196276|REF_RGD_ID:2289364 11887062 HAS1 hyaluronan synthase 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:708528 D RGD:9068941 20200609 RGD PMID:22529164|REF_RGD_ID:9588636 11887075 ASF1A anti-silencing function 1A histone chaperone gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1323657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 11887075 ASF1A anti-silencing function 1A histone chaperone gene DOID:1059 intellectual disability ISO RGD:1323657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 11887075 ASF1A anti-silencing function 1A histone chaperone gene DOID:10907 microcephaly ISO RGD:1323657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 11887075 ASF1A anti-silencing function 1A histone chaperone gene DOID:12849 autistic disorder ISO RGD:1323657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:24824130 11887075 ASF1A anti-silencing function 1A histone chaperone gene DOID:1826 epilepsy ISO RGD:1323657 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11887075 ASF1A anti-silencing function 1A histone chaperone gene DOID:1909 melanoma ISO RGD:1323657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11887075 ASF1A anti-silencing function 1A histone chaperone gene DOID:630 genetic disease ISO RGD:1323657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11887075 ASF1A anti-silencing function 1A histone chaperone gene DOID:9000495 Tremor ISO RGD:1323657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 11887090 KRT16 keratin 16 gene DOID:0050428 nonepidermolytic palmoplantar keratoderma ISO RGD:1557926 D RGD:9068941 20220825 MouseDO OMIM:600962 | OMIM:613000 | OMIM:615735 11887090 KRT16 keratin 16 gene DOID:0050449 pachyonychia congenita ISO RGD:1345926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11887090 KRT16 keratin 16 gene DOID:0050449 pachyonychia congenita ISO RGD:1557926 D RGD:9068941 20220825 MouseDO OMIM:167200 | OMIM:167210 11887090 KRT16 keratin 16 gene DOID:0080223 epidermolytic palmoplantar keratoderma ISO RGD:1345926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma PMID:25741868|PMID:28492532 11887090 KRT16 keratin 16 gene DOID:0111709 focal nonepidermolytic palmoplantar keratoderma 1 ISO RGD:1345926 D RGD:7240710 20180130 OMIM 11887090 KRT16 keratin 16 gene DOID:0111709 focal nonepidermolytic palmoplantar keratoderma 1 ISO RGD:1345926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 1 PMID:16250206|PMID:24491404|PMID:25741868|PMID:28492532|PMID:31823354|PMID:8595410 11887090 KRT16 keratin 16 gene DOID:11054 urinary bladder cancer ISO RGD:1345926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20186695 11887090 KRT16 keratin 16 gene DOID:2121 ectodermal dysplasia susceptibility ISO RGD:1345926 D RGD:9068941 20200609 RGD protein:mutation: ; L130P; pachyonychia congenita, OMIM:167200 PMID:7539673|REF_RGD_ID:1600184 11887090 KRT16 keratin 16 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1590901 D RGD:9068941 20200609 RGD PMID:8950218|REF_RGD_ID:633113 11887090 KRT16 keratin 16 gene DOID:630 genetic disease ISO RGD:1345926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11887090 KRT16 keratin 16 gene DOID:9008242 Pachyonychia Congenita 1 ISO RGD:1345926 D RGD:7240710 20190327 OMIM 11887090 KRT16 keratin 16 gene DOID:9008242 Pachyonychia Congenita 1 ISO RGD:1345926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pachyonychia congenita 1 PMID:10606845|PMID:10839714|PMID:11359398|PMID:11886499|PMID:16250206|PMID:24491404|PMID:24611874|PMID:25326637|PMID:25741868|PMID:28492532|PMID:31823354|PMID:8595410 11887102 LOC100976808 protein SCO2 homolog, mitochondrial gene DOID:0050700 cardiomyopathy ISO RGD:1347479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16326995 11887102 LOC100976808 protein SCO2 homolog, mitochondrial gene DOID:0050713 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency ISO RGD:1347479 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency PMID:10545952|PMID:11673586|PMID:12020273|PMID:12529715|PMID:14970747|PMID:14994243|PMID:15210538|PMID:16326995|PMID:16765077|PMID:18924171|PMID:19879173|PMID:23407777|PMID:23643385|PMID:23719228|PMID:25058219|PMID:25741868|PMID:26467025|PMID:27290639|PMID:28492532|PMID:28798025|PMID:29193756|PMID:29351582|PMID:31589614|PMID:31623504|PMID:32668698|PMID:33098801|PMID:34426522|PMID:34691145 11887102 LOC100976808 protein SCO2 homolog, mitochondrial gene DOID:0060041 autism spectrum disorder ISO RGD:1347479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 11887102 LOC100976808 protein SCO2 homolog, mitochondrial gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1347479 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 11887102 LOC100976808 protein SCO2 homolog, mitochondrial gene DOID:0080119 mitochondrial DNA depletion syndrome 1 ISO RGD:1347479 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type) PMID:10852545|PMID:12177387|PMID:12529715|PMID:14720311|PMID:15781193|PMID:16198108|PMID:16199547|PMID:17437622|PMID:17576681|PMID:19056268|PMID:19748572|PMID:19853446|PMID:2005900|PMID:21933806|PMID:22618301|PMID:23590577|PMID:23643385|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31885962|PMID:9536098|PMID:9924029 11887102 LOC100976808 protein SCO2 homolog, mitochondrial gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:1347479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency PMID:10852545|PMID:12529715|PMID:15781193|PMID:16198108|PMID:16199547|PMID:17576681|PMID:19056268|PMID:19853446|PMID:2005900|PMID:23643385|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098|PMID:9924029 11887102 LOC100976808 protein SCO2 homolog, mitochondrial gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1347479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11887102 LOC100976808 protein SCO2 homolog, mitochondrial gene DOID:0080357 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 ISO RGD:1347479 D RGD:7240710 20180130 OMIM 11887102 LOC100976808 protein SCO2 homolog, mitochondrial gene DOID:0080357 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 ISO RGD:1347479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 PMID:10545952|PMID:10749987|PMID:11673586|PMID:12020273|PMID:12529715|PMID:14970747|PMID:14994243|PMID:15210538|PMID:16326995|PMID:16765077|PMID:18804471|PMID:18924171|PMID:19879173|PMID:20159436|PMID:23345593|PMID:23407777|PMID:23643385|PMID:23719228|PMID:25058219|PMID:25741868|PMID:25959673|PMID:26467025|PMID:27290639|PMID:28492532|PMID:28518168|PMID:28798025|PMID:29193756|PMID:29351582|PMID:30593977|PMID:31589614|PMID:31623504|PMID:32461654|PMID:32668698|PMID:33098801|PMID:33171185|PMID:34426522|PMID:34691145 11887102 LOC100976808 protein SCO2 homolog, mitochondrial gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1347479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 11887102 LOC100976808 protein SCO2 homolog, mitochondrial gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1347479 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 11887102 LOC100976808 protein SCO2 homolog, mitochondrial gene DOID:10581 metachromatic leukodystrophy ISO RGD:1347479 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 11887102 LOC100976808 protein SCO2 homolog, mitochondrial gene DOID:1059 intellectual disability ISO RGD:1347479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11887102 LOC100976808 protein SCO2 homolog, mitochondrial gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1347479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11027508|PMID:14970747 11887102 LOC100976808 protein SCO2 homolog, mitochondrial gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1347479 D RGD:9068941 20200609 RGD PMID:10749987|REF_RGD_ID:1580020 11887102 LOC100976808 protein SCO2 homolog, mitochondrial gene DOID:12377 spinal muscular atrophy ISO RGD:1347479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy PMID:2005900|PMID:25741868|PMID:26467025|PMID:28492532 11887102 LOC100976808 protein SCO2 homolog, mitochondrial gene DOID:12930 dilated cardiomyopathy ISO RGD:1347479 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive PMID:20159436|PMID:25741868|PMID:28492532 11887102 LOC100976808 protein SCO2 homolog, mitochondrial gene DOID:12930 dilated cardiomyopathy ISO RGD:1347479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:10545952|PMID:15210538|PMID:19879173|PMID:20159436|PMID:25741868|PMID:28492532 11887102 LOC100976808 protein SCO2 homolog, mitochondrial gene DOID:1826 epilepsy ISO RGD:1347479 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizures PMID:10545952|PMID:11673586|PMID:12020273|PMID:14970747|PMID:14994243|PMID:15210538|PMID:16326995|PMID:16765077|PMID:18924171|PMID:19879173|PMID:23407777|PMID:23643385|PMID:23719228|PMID:25058219|PMID:25741868|PMID:27290639|PMID:28492532|PMID:28798025|PMID:29193756|PMID:29351582|PMID:31589614|PMID:31623504|PMID:32668698|PMID:33098801|PMID:34426522|PMID:34691145 11887102 LOC100976808 protein SCO2 homolog, mitochondrial gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1347479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:12529715|PMID:23643385|PMID:25741868|PMID:25959673|PMID:26467025|PMID:28492532|PMID:28518168|PMID:32461654 11887102 LOC100976808 protein SCO2 homolog, mitochondrial gene DOID:630 genetic disease ISO RGD:1347479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15781193|PMID:16199547|PMID:17576681|PMID:19056268|PMID:22618301|PMID:23643385|PMID:25741868|PMID:25959673|PMID:28492532|PMID:28518168|PMID:32461654|PMID:9536098|PMID:9924029 11887102 LOC100976808 protein SCO2 homolog, mitochondrial gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1347479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16326995|PMID:23345593 11887102 LOC100976808 protein SCO2 homolog, mitochondrial gene DOID:9001263 Mitochondrial DNA Depletion Syndrome, MNGIE Type ISO RGD:1347479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MNGIE syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:10852545|PMID:12529715|PMID:15781193|PMID:16198108|PMID:16199547|PMID:17576681|PMID:19056268|PMID:19853446|PMID:2005900|PMID:23643385|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098|PMID:9924029 11887102 LOC100976808 protein SCO2 homolog, mitochondrial gene DOID:9001488 Human Influenza ISO RGD:1347479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11887102 LOC100976808 protein SCO2 homolog, mitochondrial gene DOID:9004853 Myopia 6 ISO RGD:1347479 D RGD:7240710 20180130 OMIM 11887102 LOC100976808 protein SCO2 homolog, mitochondrial gene DOID:9004853 Myopia 6 ISO RGD:1347479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopia 6 | ClinVar Annotator: match by term: Myopia, susceptibility to PMID:10545952|PMID:10749987|PMID:11673586|PMID:12020273|PMID:14970747|PMID:14994243|PMID:15210538|PMID:16326995|PMID:16765077|PMID:18924171|PMID:19879173|PMID:23407777|PMID:23643385|PMID:23719228|PMID:25058219|PMID:25741868|PMID:25959673|PMID:27290639|PMID:28492532|PMID:28518168|PMID:28798025|PMID:29193756|PMID:29351582|PMID:31589614|PMID:31623504|PMID:32461654|PMID:32668698|PMID:33098801|PMID:33171185|PMID:34426522|PMID:34691145 11887102 LOC100976808 protein SCO2 homolog, mitochondrial gene DOID:9005683 Metabolic Brain Diseases, Inborn ISO RGD:1347479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23345593 11887102 LOC100976808 protein SCO2 homolog, mitochondrial gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:1347479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:12529715|PMID:23643385|PMID:25741868|PMID:26467025|PMID:28492532 11887122 ZC3H8 zinc finger CCCH-type containing 8 gene DOID:630 genetic disease ISO RGD:1321369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11887135 PIGO phosphatidylinositol glycan anchor biosynthesis class O gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1319869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11887135 PIGO phosphatidylinositol glycan anchor biosynthesis class O gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1319869 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11887135 PIGO phosphatidylinositol glycan anchor biosynthesis class O gene DOID:0080942 anauxetic dysplasia ISO RGD:1319869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11887135 PIGO phosphatidylinositol glycan anchor biosynthesis class O gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1319869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11887135 PIGO phosphatidylinositol glycan anchor biosynthesis class O gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1319869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11887135 PIGO phosphatidylinositol glycan anchor biosynthesis class O gene DOID:10487 Hirschsprung's disease ISO RGD:1319869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon PMID:25741868 11887135 PIGO phosphatidylinositol glycan anchor biosynthesis class O gene DOID:1059 intellectual disability ISO RGD:1319869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26467025|PMID:28492532 11887135 PIGO phosphatidylinositol glycan anchor biosynthesis class O gene DOID:630 genetic disease ISO RGD:1319869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22683086|PMID:24033266|PMID:24417746|PMID:25741868|PMID:28492532|PMID:28545593 11887135 PIGO phosphatidylinositol glycan anchor biosynthesis class O gene DOID:9002100 Hyperphosphatasia with Mental Retardation Syndrome 1 ISO RGD:1319869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 PMID:25741868 11887135 PIGO phosphatidylinositol glycan anchor biosynthesis class O gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1319869 D RGD:7240710 20180130 OMIM 11887135 PIGO phosphatidylinositol glycan anchor biosynthesis class O gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1319869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 PMID:16199547|PMID:17576681|PMID:22683086|PMID:24033266|PMID:24417746|PMID:25741868|PMID:26467025|PMID:26633542|PMID:28337824|PMID:28492532|PMID:28545593|PMID:30109123|PMID:9536098 11887135 PIGO phosphatidylinositol glycan anchor biosynthesis class O gene DOID:9005046 Hyperphosphatasia with Impaired Intellectual Development Syndrome ISO RGD:1319869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome PMID:22683086|PMID:24033266|PMID:24417746|PMID:25741868|PMID:28492532|PMID:28545593 11887135 PIGO phosphatidylinositol glycan anchor biosynthesis class O gene DOID:9562 primary ciliary dyskinesia ISO RGD:1319869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11887135 PIGO phosphatidylinositol glycan anchor biosynthesis class O gene DOID:9870 galactosemia ISO RGD:1319869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11887170 VGLL2 vestigial like family member 2 gene DOID:0060163 body dysmorphic disorder ISO RGD:1323604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 11887170 VGLL2 vestigial like family member 2 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1323604 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 11887170 VGLL2 vestigial like family member 2 gene DOID:1059 intellectual disability ISO RGD:1323604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 11887170 VGLL2 vestigial like family member 2 gene DOID:10907 microcephaly ISO RGD:1323604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 11887170 VGLL2 vestigial like family member 2 gene DOID:1826 epilepsy ISO RGD:1323604 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11887170 VGLL2 vestigial like family member 2 gene DOID:1909 melanoma ISO RGD:1323604 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11887170 VGLL2 vestigial like family member 2 gene DOID:630 genetic disease ISO RGD:1323604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11887170 VGLL2 vestigial like family member 2 gene DOID:9000495 Tremor ISO RGD:1323604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 11887182 PGAM1 phosphoglycerate mutase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:737211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 11887182 PGAM1 phosphoglycerate mutase 1 gene DOID:299 adenocarcinoma ISO RGD:737211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 11887182 PGAM1 phosphoglycerate mutase 1 gene DOID:305 carcinoma ISO RGD:737211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11887182 PGAM1 phosphoglycerate mutase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:737211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 11887182 PGAM1 phosphoglycerate mutase 1 gene DOID:630 genetic disease ISO RGD:737211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11887182 PGAM1 phosphoglycerate mutase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:737211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 11887182 PGAM1 phosphoglycerate mutase 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11887182 PGAM1 phosphoglycerate mutase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11887182 PGAM1 phosphoglycerate mutase 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:737211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 11887190 ACP5 acid phosphatase 5, tartrate resistant gene DOID:0050990 episodic ataxia type 2 ISO RGD:10073 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11887190 ACP5 acid phosphatase 5, tartrate resistant gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:10073 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11887190 ACP5 acid phosphatase 5, tartrate resistant gene DOID:0111254 glutaric acidemia I ISO RGD:10073 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11887190 ACP5 acid phosphatase 5, tartrate resistant gene DOID:12466 secondary hyperparathyroidism ISO RGD:10073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21985997|PMID:22373954 11887190 ACP5 acid phosphatase 5, tartrate resistant gene DOID:3413 alpha-mannosidosis ISO RGD:10073 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11887190 ACP5 acid phosphatase 5, tartrate resistant gene DOID:630 genetic disease ISO RGD:10073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:13524805|PMID:21217752|PMID:21217755|PMID:2363422|PMID:25741868|PMID:26951490|PMID:27125509|PMID:27390188|PMID:28492532|PMID:28740483 11887190 ACP5 acid phosphatase 5, tartrate resistant gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:10073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11887190 ACP5 acid phosphatase 5, tartrate resistant gene DOID:9003845 Stress Fractures ISO RGD:2022 D RGD:9068941 20200609 RGD protein:increased expression:tibia (rat) PMID:19821772|REF_RGD_ID:2315909 11887190 ACP5 acid phosphatase 5, tartrate resistant gene DOID:9003917 Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia ISO RGD:10073 D RGD:7240710 20180130 OMIM 11887190 ACP5 acid phosphatase 5, tartrate resistant gene DOID:9003917 Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia ISO RGD:10073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation PMID:12786759|PMID:13524805|PMID:16470600|PMID:17576681|PMID:18924170|PMID:21217752|PMID:21217755|PMID:2363422|PMID:24033266|PMID:25741868|PMID:26346816|PMID:26789720|PMID:26951490|PMID:27125509|PMID:27390188|PMID:27718324|PMID:28492532|PMID:28740483|PMID:32214327|PMID:9536098 11887190 ACP5 acid phosphatase 5, tartrate resistant gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:2022 D RGD:9068941 20200609 RGD protein:increased expression:femur (rat) PMID:19736603|REF_RGD_ID:2315910 11887190 ACP5 acid phosphatase 5, tartrate resistant gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2022 D RGD:9068941 20200609 RGD protein:increased activity:femoral bone (rat) PMID:19699734|REF_RGD_ID:2315882 11887190 ACP5 acid phosphatase 5, tartrate resistant gene DOID:9007945 Spondyloenchondrodysplasia ISO RGD:10073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21217752|PMID:21217755 11887190 ACP5 acid phosphatase 5, tartrate resistant gene DOID:9970 obesity ISO RGD:10073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 11887226 PNPLA5 patatin like phospholipase domain containing 5 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1343707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11887226 PNPLA5 patatin like phospholipase domain containing 5 gene DOID:1059 intellectual disability ISO RGD:1343707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11887226 PNPLA5 patatin like phospholipase domain containing 5 gene DOID:630 genetic disease ISO RGD:1343707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11887243 MX1 MX dynamin like GTPase 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:1353561 D RGD:9068941 20210409 RGD DNA:SNP:promoter:-g.88G>T (rs2071430) (human) PMID:23438650|REF_RGD_ID:126777681 11887243 MX1 MX dynamin like GTPase 1 gene DOID:11166 papillomavirus infectious disease exacerbates ISO RGD:1353561 D RGD:9068941 20210409 RGD protein:increased expression:body wart (human) PMID:28736973|REF_RGD_ID:126777683 11887243 MX1 MX dynamin like GTPase 1 gene DOID:12849 autistic disorder ISO RGD:1353561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11887243 MX1 MX dynamin like GTPase 1 gene DOID:13636 Fanconi anemia ISO RGD:1353561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9389754 11887243 MX1 MX dynamin like GTPase 1 gene DOID:409 liver disease ISO RGD:1353561 D RGD:9068941 20210409 RGD associated with human immunodeficiency virus infectious disease, Chronic Hepatitis C:DNA:SNP, missense mutation:intron 3, exon 13: (rs464397, rs469390) (human) PMID:28139728|REF_RGD_ID:126777674 11887243 MX1 MX dynamin like GTPase 1 gene DOID:4492 avian influenza ISO RGD:1353561 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:178595 11887243 MX1 MX dynamin like GTPase 1 gene DOID:4492 avian influenza susceptibility ISO RGD:1353561 D RGD:9068941 20210409 RGD human gene in a mouse model PMID:28396461|REF_RGD_ID:126777675 11887243 MX1 MX dynamin like GTPase 1 gene DOID:6000 congestive heart failure ISO RGD:1353561 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 11887243 MX1 MX dynamin like GTPase 1 gene DOID:630 genetic disease ISO RGD:1353561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11887243 MX1 MX dynamin like GTPase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1353561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11887243 MX1 MX dynamin like GTPase 1 gene DOID:9000371 influenza A ameliorates ISO RGD:1353561 D RGD:9068941 20210409 RGD human gene in a mouse model PMID:30945621|PMID:31653718|REF_RGD_ID:126777673|REF_RGD_ID:126777680 11887243 MX1 MX dynamin like GTPase 1 gene DOID:9001488 Human Influenza ISO RGD:1353561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11887243 MX1 MX dynamin like GTPase 1 gene DOID:9004017 Chronic Hepatitis C exacerbates ISO RGD:1353561 D RGD:9068941 20210409 RGD DNA:SNPs:promoter: (rs2071430, rs17000900) (human) PMID:29271328|REF_RGD_ID:126777679 11887243 MX1 MX dynamin like GTPase 1 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1353561 D RGD:9068941 20210409 RGD DNA:SNPs:promoter:g.-123C>A, -88G>T(human) PMID:25239021|REF_RGD_ID:11067846 11887243 MX1 MX dynamin like GTPase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11887243 MX1 MX dynamin like GTPase 1 gene DOID:9006205 Animal Disease Models ISO RGD:1353561 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 11887243 MX1 MX dynamin like GTPase 1 gene DOID:9006549 Enterovirus Infections susceptibility ISO RGD:1353561 D RGD:9068941 20210409 RGD DNA:SNPs:promoter:g.-123C>A, g.-88G>T (rs17000900, rs2071430) (human) PMID:24085612|REF_RGD_ID:126777678 11887243 MX1 MX dynamin like GTPase 1 gene DOID:9006844 Streptococcal Infections ISO RGD:1353561 D RGD:9068941 20210409 RGD associated with pharyngitis;protein:increased expression:blood (human) PMID:28077283|REF_RGD_ID:126777682 11887243 MX1 MX dynamin like GTPase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1353561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11887243 MX1 MX dynamin like GTPase 1 gene DOID:9008680 Respiratory Tract Infections ISO RGD:1353561 D RGD:9068941 20210409 RGD protein:increased expression:blood (human) PMID:25542463|REF_RGD_ID:126777677 11887243 MX1 MX dynamin like GTPase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1353561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11887243 MX1 MX dynamin like GTPase 1 gene DOID:986 alopecia areata onset ISO RGD:1353561 D RGD:9068941 20210409 RGD DNA:SNP:intron 6:g.9959C>T (human) PMID:10942113|REF_RGD_ID:126777672 11887280 AUH AU RNA binding methylglutaconyl-CoA hydratase gene DOID:0110002 3-methylglutaconic aciduria type 1 ISO RGD:1314501 D RGD:7240710 20180130 OMIM 11887280 AUH AU RNA binding methylglutaconyl-CoA hydratase gene DOID:0110002 3-methylglutaconic aciduria type 1 ISO RGD:1314501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1 PMID:10070612|PMID:10626578|PMID:10896289|PMID:12434311|PMID:12655555|PMID:15033206|PMID:16199547|PMID:16354225|PMID:16640564|PMID:17130438|PMID:17576681|PMID:20855850|PMID:20882351|PMID:21840233|PMID:24598254|PMID:25741868|PMID:28438368|PMID:28492532|PMID:32778825|PMID:6181239|PMID:9536098 11887280 AUH AU RNA binding methylglutaconyl-CoA hydratase gene DOID:447 renal tubular transport disease susceptibility ISO RGD:1314501 D RGD:9068941 20200609 RGD DNA:nonsense mutation,splice-site mutation:R197X,VS8-1G-->A;3-methylglutaconic aciduria type I,OMIM:250950 PMID:12434311|REF_RGD_ID:1599425 11887280 AUH AU RNA binding methylglutaconyl-CoA hydratase gene DOID:630 genetic disease ISO RGD:1314501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11887294 NWD1 NACHT and WD repeat domain containing 1 gene DOID:10283 prostate cancer ISO RGD:1604179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11887294 NWD1 NACHT and WD repeat domain containing 1 gene DOID:630 genetic disease ISO RGD:1604179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11887332 ABRA actin binding Rho activating protein gene DOID:12930 dilated cardiomyopathy ISO RGD:1603582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16243910 11887332 ABRA actin binding Rho activating protein gene DOID:630 genetic disease ISO RGD:1603582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11887338 IVNS1ABP influenza virus NS1A binding protein gene DOID:0112005 immunodeficiency 70 ISO RGD:1314824 D RGD:7240710 20200812 OMIM 11887338 IVNS1ABP influenza virus NS1A binding protein gene DOID:0112005 immunodeficiency 70 ISO RGD:1314824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 70 PMID:32499645 11887338 IVNS1ABP influenza virus NS1A binding protein gene DOID:1540 parathyroid carcinoma ISO RGD:1314824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11887338 IVNS1ABP influenza virus NS1A binding protein gene DOID:630 genetic disease ISO RGD:1314824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11887338 IVNS1ABP influenza virus NS1A binding protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 11887338 IVNS1ABP influenza virus NS1A binding protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11887357 CEP112 centrosomal protein 112 gene DOID:0112109 spermatogenic failure 44 ISO RGD:1604510 D RGD:7240710 20201021 OMIM 11887357 CEP112 centrosomal protein 112 gene DOID:0112109 spermatogenic failure 44 ISO RGD:1604510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 44 PMID:31654588 11887357 CEP112 centrosomal protein 112 gene DOID:630 genetic disease ISO RGD:1604510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11887392 CD248 CD248 molecule gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1353954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 11887392 CD248 CD248 molecule gene DOID:1059 intellectual disability ISO RGD:1353954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11887392 CD248 CD248 molecule gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11887392 CD248 CD248 molecule gene DOID:2746 glycogen storage disease V ISO RGD:1353954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11887392 CD248 CD248 molecule gene DOID:630 genetic disease ISO RGD:1353954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11887392 CD248 CD248 molecule gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1353954 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11887392 CD248 CD248 molecule gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1353954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11887401 ANAPC10 anaphase promoting complex subunit 10 gene DOID:630 genetic disease ISO RGD:1318993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11887419 MEA1 male-enhanced antigen 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1346327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11887419 MEA1 male-enhanced antigen 1 gene DOID:0070065 autosomal dominant intellectual developmental disorder 35 ISO RGD:1346327 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 35 PMID:25741868 11887419 MEA1 male-enhanced antigen 1 gene DOID:1059 intellectual disability ISO RGD:1346327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25533962|PMID:25741868|PMID:25741882|PMID:25972378|PMID:26168268|PMID:28492532|PMID:30676711|PMID:34906502 11887419 MEA1 male-enhanced antigen 1 gene DOID:630 genetic disease ISO RGD:1346327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11887419 MEA1 male-enhanced antigen 1 gene DOID:905 Zellweger syndrome ISO RGD:1346327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11887430 ILDR2 immunoglobulin like domain containing receptor 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1345788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11887430 ILDR2 immunoglobulin like domain containing receptor 2 gene DOID:630 genetic disease ISO RGD:1345788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11887430 ILDR2 immunoglobulin like domain containing receptor 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11887445 ZNF692 zinc finger protein 692 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1604343 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11887445 ZNF692 zinc finger protein 692 gene DOID:630 genetic disease ISO RGD:1604343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11887445 ZNF692 zinc finger protein 692 gene DOID:9002189 High Myopia ISO RGD:1604343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11887446 IL18RAP interleukin 18 receptor accessory protein gene DOID:0050589 inflammatory bowel disease ISO RGD:1315691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983784 11887446 IL18RAP interleukin 18 receptor accessory protein gene DOID:0080685 aortic dissection ISO RGD:1315691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ascending aortic dissection PMID:34409081 11887446 IL18RAP interleukin 18 receptor accessory protein gene DOID:630 genetic disease ISO RGD:1315691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11887446 IL18RAP interleukin 18 receptor accessory protein gene DOID:8577 ulcerative colitis ISO RGD:1315691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 11887446 IL18RAP interleukin 18 receptor accessory protein gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1315691 D RGD:9068941 20200609 RGD DNA:SNP: :rs1420106 (human) PMID:18774397|REF_RGD_ID:5024946 11887446 IL18RAP interleukin 18 receptor accessory protein gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1315692 D RGD:9068941 20200609 RGD PMID:19164288|REF_RGD_ID:4889578 11887462 ADGRD2 adhesion G protein-coupled receptor D2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1350453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11887484 ELOC elongin C gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:733902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K PMID:15805163|PMID:20685671|PMID:21681106 11887484 ELOC elongin C gene DOID:4450 renal cell carcinoma ISO RGD:733902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:26619011 11887484 ELOC elongin C gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:733902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:26619011 11887536 TTC9C tetratricopeptide repeat domain 9C gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1601809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11887536 TTC9C tetratricopeptide repeat domain 9C gene DOID:1059 intellectual disability ISO RGD:1601809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11887536 TTC9C tetratricopeptide repeat domain 9C gene DOID:630 genetic disease ISO RGD:1601809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11887536 TTC9C tetratricopeptide repeat domain 9C gene DOID:9002304 Prostatic Neoplasms ISO RGD:1601809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11887558 SMU1 SMU1 DNA replication regulator and spliceosomal factor gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1343755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11887558 SMU1 SMU1 DNA replication regulator and spliceosomal factor gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1343755 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11887558 SMU1 SMU1 DNA replication regulator and spliceosomal factor gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1343755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11887558 SMU1 SMU1 DNA replication regulator and spliceosomal factor gene DOID:630 genetic disease ISO RGD:1343755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11887558 SMU1 SMU1 DNA replication regulator and spliceosomal factor gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11887558 SMU1 SMU1 DNA replication regulator and spliceosomal factor gene DOID:9870 galactosemia ISO RGD:1343755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11887579 POFUT1 protein O-fucosyltransferase 1 gene DOID:0060256 Dowling-Degos disease ISO RGD:1348314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11887579 POFUT1 protein O-fucosyltransferase 1 gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1348314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency PMID:28492532 11887579 POFUT1 protein O-fucosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1348314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11887579 POFUT1 protein O-fucosyltransferase 1 gene DOID:9006393 Dowling-Degos Disease 2 ISO RGD:1348314 D RGD:7240710 20180130 OMIM 11887579 POFUT1 protein O-fucosyltransferase 1 gene DOID:9006393 Dowling-Degos Disease 2 ISO RGD:1348314 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dowling-Degos disease 2 PMID:23684010|PMID:25229252|PMID:25741868|PMID:28492532|PMID:31566882 11887599 AAMDC adipogenesis associated Mth938 domain containing gene DOID:1059 intellectual disability ISO RGD:1603054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11887599 AAMDC adipogenesis associated Mth938 domain containing gene DOID:630 genetic disease ISO RGD:1603054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11887623 KCNRG potassium channel regulator gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1316250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11887623 KCNRG potassium channel regulator gene DOID:1059 intellectual disability ISO RGD:1316250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11887623 KCNRG potassium channel regulator gene DOID:630 genetic disease ISO RGD:1316250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11887632 HEATR1 HEAT repeat containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1605668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11887632 HEATR1 HEAT repeat containing 1 gene DOID:3068 glioblastoma ISO RGD:1605668 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:25126583|REF_RGD_ID:10761721 11887632 HEATR1 HEAT repeat containing 1 gene DOID:3587 pancreatic ductal carcinoma treatment ISO RGD:1605668 D RGD:9068941 20200609 RGD PMID:26676747|REF_RGD_ID:10761108 11887632 HEATR1 HEAT repeat containing 1 gene DOID:630 genetic disease ISO RGD:1605668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11887632 HEATR1 HEAT repeat containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11887681 ING3 inhibitor of growth family member 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11887681 ING3 inhibitor of growth family member 3 gene DOID:630 genetic disease ISO RGD:1321527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11887681 ING3 inhibitor of growth family member 3 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1310556 D RGD:9068941 20200609 RGD PMID:25156538|REF_RGD_ID:9587823 11887736 RAB9B RAB9B, member RAS oncogene family gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11887736 RAB9B RAB9B, member RAS oncogene family gene DOID:0110773 hereditary spastic paraplegia 2 ISO RGD:1353231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 PMID:10319897|PMID:10417279|PMID:11093273|PMID:12601703|PMID:12910435|PMID:1384324|PMID:14452137|PMID:14745569|PMID:15450775|PMID:15712223|PMID:16199547|PMID:16287154|PMID:16380909|PMID:16844304|PMID:17438221|PMID:17576681|PMID:18160035|PMID:18414213|PMID:18470932|PMID:19328639|PMID:19825935|PMID:19955111|PMID:20022439|PMID:21679407|PMID:22016529|PMID:22343157|PMID:22695888|PMID:23344956|PMID:23347225|PMID:24088041|PMID:24139698|PMID:24519770|PMID:2479017|PMID:2480601|PMID:24890387|PMID:24936452|PMID:25741868|PMID:26125040|PMID:26467025|PMID:26633545|PMID:26786043|PMID:26795593|PMID:27535533|PMID:2773936|PMID:28366443|PMID:28492532|PMID:29451896|PMID:30314286|PMID:30337681|PMID:33504798|PMID:34782662|PMID:3827224|PMID:7488049|PMID:7522741|PMID:7531827|PMID:8012387|PMID:8320699|PMID:8723686|PMID:8786077|PMID:8956049|PMID:9056547|PMID:9106132|PMID:9247276|PMID:9427151|PMID:9489796|PMID:9536098|PMID:9634530|PMID:9934976 11887736 RAB9B RAB9B, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1353231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11887736 RAB9B RAB9B, member RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:1353231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11887736 RAB9B RAB9B, member RAS oncogene family gene DOID:2476 hereditary spastic paraplegia ISO RGD:1353231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:10319897|PMID:15712223|PMID:25741868|PMID:26467025|PMID:28492532 11887736 RAB9B RAB9B, member RAS oncogene family gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1353231 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, atypical | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, connatal | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, mild PMID:10319897|PMID:10417279|PMID:11071483|PMID:11093273|PMID:12297985|PMID:12605435|PMID:12910435|PMID:1376966|PMID:1384324|PMID:15712223|PMID:1605230|PMID:16380909|PMID:16778599|PMID:1707231|PMID:1715570|PMID:1720927|PMID:18414213|PMID:18470932|PMID:18835559|PMID:19396823|PMID:20022439|PMID:20301361|PMID:21679407|PMID:22343157|PMID:22695888|PMID:24088041|PMID:24139698|PMID:24519770|PMID:2479017|PMID:2480601|PMID:25326635|PMID:25491635|PMID:25741868|PMID:26125040|PMID:26467025|PMID:26633545|PMID:26795593|PMID:27535533|PMID:2773936|PMID:28286750|PMID:28492532|PMID:29451896|PMID:31690835|PMID:3827224|PMID:7488049|PMID:7573159|PMID:7574457|PMID:7683951|PMID:8696336|PMID:8723686|PMID:8786077|PMID:9056547|PMID:9482656|PMID:9633722|PMID:9634530 11887736 RAB9B RAB9B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1353231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10401787|PMID:10417279|PMID:12910435|PMID:17576681|PMID:17962415|PMID:18414213|PMID:18470932|PMID:20022439|PMID:22343157|PMID:23771846|PMID:25491635|PMID:25741868|PMID:26467025|PMID:26795593|PMID:28492532|PMID:29451896|PMID:30337681|PMID:8786077|PMID:9536098 11887736 RAB9B RAB9B, member RAS oncogene family gene DOID:9007428 Muscle Spasticity ISO RGD:1353231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spasticity 11887736 RAB9B RAB9B, member RAS oncogene family gene DOID:9008086 Developmental Disabilities ISO RGD:1353231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11887743 TMEM88B transmembrane protein 88B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:2802463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11887743 TMEM88B transmembrane protein 88B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:2802463 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11887743 TMEM88B transmembrane protein 88B gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:2802463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11887743 TMEM88B transmembrane protein 88B gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:2802463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11887743 TMEM88B transmembrane protein 88B gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:2802463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11887743 TMEM88B transmembrane protein 88B gene DOID:0110994 Joubert syndrome 25 ISO RGD:2802463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11887743 TMEM88B transmembrane protein 88B gene DOID:0111934 immunodeficiency 38 ISO RGD:2802463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11887743 TMEM88B transmembrane protein 88B gene DOID:0111935 immunodeficiency 16 ISO RGD:2802463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11887743 TMEM88B transmembrane protein 88B gene DOID:1827 idiopathic generalized epilepsy ISO RGD:2802463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11887743 TMEM88B transmembrane protein 88B gene DOID:630 genetic disease ISO RGD:2802463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11887743 TMEM88B transmembrane protein 88B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2802463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11887743 TMEM88B transmembrane protein 88B gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:2802463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11887743 TMEM88B transmembrane protein 88B gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:2802463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11887748 POMT1 protein O-mannosyltransferase 1 gene DOID:0050453 lissencephaly ISO RGD:1348575 D RGD:9068941 20200609 RGD DNA:insertions, deletions, missense mutations: :multiple PMID:17559086|REF_RGD_ID:11065022 11887748 POMT1 protein O-mannosyltransferase 1 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1348575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:23757202|PMID:24033266|PMID:25741868|PMID:28492532 11887748 POMT1 protein O-mannosyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1348575 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome PMID:11320179|PMID:12369018|PMID:14678799|PMID:15637732|PMID:15792865|PMID:16575835|PMID:17559086|PMID:17878207|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19299310|PMID:22323514|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32860008 11887748 POMT1 protein O-mannosyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1348575 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome PMID:11053679|PMID:11320179|PMID:12369018|PMID:14678799|PMID:15637732|PMID:15792865|PMID:16575835|PMID:16717220|PMID:17559086|PMID:17869517|PMID:17878207|PMID:18513969|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19299310|PMID:22323514|PMID:22549409|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31311558|PMID:32860008 11887748 POMT1 protein O-mannosyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1348575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome PMID:11053679|PMID:11320179|PMID:12369018|PMID:14678799|PMID:15637732|PMID:15792865|PMID:16199547|PMID:16575835|PMID:16717220|PMID:17559086|PMID:17869517|PMID:17878207|PMID:18513969|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19299310|PMID:20816175|PMID:22323514|PMID:22549409|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25741868|PMID:26467025|PMID:28097321|PMID:28492532|PMID:30426380|PMID:31311558|PMID:32860008 11887748 POMT1 protein O-mannosyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1348575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome PMID:11053679|PMID:11320179|PMID:12369018|PMID:14678799|PMID:15637732|PMID:15792865|PMID:16199547|PMID:16575835|PMID:16717220|PMID:17559086|PMID:17869517|PMID:17878207|PMID:18513969|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19299310|PMID:20816175|PMID:22323514|PMID:22549409|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25741868|PMID:26467025|PMID:28097321|PMID:28116189|PMID:28492532|PMID:30426380|PMID:31311558|PMID:32860008 11887748 POMT1 protein O-mannosyltransferase 1 gene DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ISO RGD:1348575 D RGD:7240710 20180130 OMIM 11887748 POMT1 protein O-mannosyltransferase 1 gene DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ISO RGD:1348575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1 PMID:11053679|PMID:12369018|PMID:14678799|PMID:15637732|PMID:15792865|PMID:16199547|PMID:16575835|PMID:16717220|PMID:17559086|PMID:17869517|PMID:17878207|PMID:18513969|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19299310|PMID:20816175|PMID:22323514|PMID:22549409|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25741868|PMID:26467025|PMID:28097321|PMID:28116189|PMID:28492532|PMID:30426380|PMID:31311558|PMID:32860008 11887748 POMT1 protein O-mannosyltransferase 1 gene DOID:0050700 cardiomyopathy ISO RGD:1348575 D RGD:9068941 20200609 RGD associated with Muscular Dystrophies PMID:22549409|REF_RGD_ID:11069993 11887748 POMT1 protein O-mannosyltransferase 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1348575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:26467025|PMID:28182637|PMID:28492532 11887748 POMT1 protein O-mannosyltransferase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1348575 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11887748 POMT1 protein O-mannosyltransferase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1348575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11887748 POMT1 protein O-mannosyltransferase 1 gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:1348575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy PMID:16575835|PMID:25741868|PMID:28492532 11887748 POMT1 protein O-mannosyltransferase 1 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1348575 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:12369018|PMID:15522202|PMID:15637732|PMID:15733261|PMID:15792865|PMID:16199547|PMID:16575835|PMID:16698797|PMID:17559086|PMID:22323514|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25741868|PMID:28157257|PMID:28492532|PMID:31311558|PMID:32528171|PMID:35046417 11887748 POMT1 protein O-mannosyltransferase 1 gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1348575 D RGD:7240710 20180130 OMIM 11887748 POMT1 protein O-mannosyltransferase 1 gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1348575 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 11 PMID:11053679|PMID:12369018|PMID:14678799|PMID:15522202|PMID:15637732|PMID:15733261|PMID:15792865|PMID:16199547|PMID:16575835|PMID:16698797|PMID:16717220|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:18414213|PMID:18513969|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19222032|PMID:19299310|PMID:19519795|PMID:19763152|PMID:20065251|PMID:20307669|PMID:20816175|PMID:21102627|PMID:22323514|PMID:22406018|PMID:22499106|PMID:22522420|PMID:22549409|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25267602|PMID:25326635|PMID:25741868|PMID:25898921|PMID:26245304|PMID:26467025|PMID:27066551|PMID:27159402|PMID:27193224|PMID:27884173|PMID:28097321|PMID:28116189|PMID:28157257|PMID:28182637|PMID:28492532|PMID:28556411|PMID:29101272|PMID:30060766|PMID:30426380|PMID:31311558|PMID:32528171|PMID:32860008|PMID:33146414|PMID:35046417|PMID:35769956|PMID:9536098 11887748 POMT1 protein O-mannosyltransferase 1 gene DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ISO RGD:1348575 D RGD:7240710 20190703 OMIM 11887748 POMT1 protein O-mannosyltransferase 1 gene DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ISO RGD:1348575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:11053679|PMID:11320179|PMID:12369018|PMID:14678799|PMID:15037715|PMID:15637732|PMID:15792865|PMID:16199547|PMID:16575835|PMID:16717220|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:18414213|PMID:18513969|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19222032|PMID:19299310|PMID:19519795|PMID:20065251|PMID:20816175|PMID:22323514|PMID:22549409|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25267602|PMID:25326635|PMID:25741868|PMID:25898921|PMID:26245304|PMID:26467025|PMID:27193224|PMID:27884173|PMID:28097321|PMID:28116189|PMID:28492532|PMID:28556411|PMID:30426380|PMID:31311558|PMID:31319225|PMID:32860008|PMID:9536098 11887748 POMT1 protein O-mannosyltransferase 1 gene DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 ISO RGD:1348575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 PMID:12369018|PMID:15637732|PMID:16575835|PMID:25741868|PMID:28116189|PMID:28492532|PMID:31311558 11887748 POMT1 protein O-mannosyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:1348575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:16575835|PMID:18647264|PMID:25741868|PMID:26467025|PMID:28492532 11887748 POMT1 protein O-mannosyltransferase 1 gene DOID:10908 hydrocephalus ISO RGD:1348575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:12369018|PMID:16575835|PMID:17559086|PMID:18640039|PMID:18752264|PMID:19299310|PMID:22323514|PMID:23757202|PMID:24304607|PMID:24491487|PMID:25741868|PMID:28492532|PMID:31311558|PMID:32860008 11887748 POMT1 protein O-mannosyltransferase 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1348575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11887748 POMT1 protein O-mannosyltransferase 1 gene DOID:1826 epilepsy ISO RGD:1348575 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 11887748 POMT1 protein O-mannosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1348575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12369018|PMID:16575835|PMID:17559086|PMID:18640039|PMID:18752264|PMID:19299310|PMID:22323514|PMID:23757202|PMID:24304607|PMID:24491487|PMID:25741868|PMID:25954003|PMID:26467025|PMID:27618451|PMID:28490743|PMID:28492532|PMID:30060766|PMID:31311558|PMID:32528171|PMID:32860008 11887748 POMT1 protein O-mannosyltransferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868|PMID:28492532 11887748 POMT1 protein O-mannosyltransferase 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1348575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:14678799|PMID:15792865|PMID:17878207|PMID:25741868|PMID:28097321|PMID:28492532|PMID:30426380 11887748 POMT1 protein O-mannosyltransferase 1 gene DOID:9009131 Ventriculomegaly ISO RGD:1348575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:12369018|PMID:16575835|PMID:17559086|PMID:18640039|PMID:18752264|PMID:19299310|PMID:22323514|PMID:23757202|PMID:24304607|PMID:24491487|PMID:25741868|PMID:28492532|PMID:31311558|PMID:32860008 11887748 POMT1 protein O-mannosyltransferase 1 gene DOID:9296 cleft lip ISO RGD:1348575 D RGD:9068941 20200609 RGD associated with Walker-Warburg Syndrome;DNA:insertion, deletion:exon PMID:18640039|REF_RGD_ID:11532685 11887748 POMT1 protein O-mannosyltransferase 1 gene DOID:9884 muscular dystrophy ISO RGD:1348575 D RGD:9068941 20200609 RGD DNA:mutations: :multiple PMID:16575835|REF_RGD_ID:11532686 11887795 COL25A1 collagen type XXV alpha 1 chain gene DOID:0081020 congenital fibrosis of the extraocular muscles 5 ISO RGD:1603375 D RGD:7240710 20180130 OMIM 11887795 COL25A1 collagen type XXV alpha 1 chain gene DOID:0081020 congenital fibrosis of the extraocular muscles 5 ISO RGD:1603375 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 5 PMID:25500261|PMID:25741868|PMID:31875546 11887795 COL25A1 collagen type XXV alpha 1 chain gene DOID:630 genetic disease ISO RGD:1603375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11887837 CYP4F22 cytochrome P450 family 4 subfamily F member 22 gene DOID:0060041 autism spectrum disorder ISO RGD:1606166 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11887837 CYP4F22 cytochrome P450 family 4 subfamily F member 22 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1606166 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:16436457|PMID:25741868|PMID:25998749|PMID:26056268|PMID:26646773|PMID:27025581|PMID:28492532|PMID:30011118|PMID:31625567|PMID:31876103|PMID:32069299|PMID:33067036|PMID:33786896 11887837 CYP4F22 cytochrome P450 family 4 subfamily F member 22 gene DOID:0060714 autosomal recessive congenital ichthyosis 5 ISO RGD:1606166 D RGD:7240710 20180130 OMIM 11887837 CYP4F22 cytochrome P450 family 4 subfamily F member 22 gene DOID:0060714 autosomal recessive congenital ichthyosis 5 ISO RGD:1606166 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 5 PMID:16436457|PMID:18034255|PMID:22992804|PMID:23621129|PMID:23871423|PMID:24397709|PMID:25741868|PMID:25998749|PMID:26056268|PMID:26646773|PMID:26762237|PMID:27025581|PMID:27449533|PMID:27735052|PMID:28492532|PMID:30011118|PMID:31625567|PMID:31876103|PMID:32069299|PMID:33067036|PMID:33223529|PMID:33786896 11887837 CYP4F22 cytochrome P450 family 4 subfamily F member 22 gene DOID:3310 atopic dermatitis ISO RGD:1606166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atopic eczema PMID:25741868 11887837 CYP4F22 cytochrome P450 family 4 subfamily F member 22 gene DOID:630 genetic disease ISO RGD:1606166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11887855 LDB3 LIM domain binding 3 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1351488 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:20474083|PMID:23861362|PMID:24033266|PMID:25179549|PMID:25351510|PMID:25741868|PMID:28492532|PMID:30847666 11887855 LDB3 LIM domain binding 3 gene DOID:0050700 cardiomyopathy ISO RGD:1351488 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:11696561|PMID:14662268|PMID:15668942|PMID:16476425|PMID:17097056|PMID:17235623|PMID:17337483|PMID:17438622|PMID:17576681|PMID:18055494|PMID:18765652|PMID:19028670|PMID:19377068|PMID:19412328|PMID:20301672|PMID:20474083|PMID:20590677|PMID:20852297|PMID:21676617|PMID:22337857|PMID:23263837|PMID:23299917|PMID:23396983|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24647531|PMID:24668811|PMID:25041374|PMID:25163546|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25326637|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:26350513|PMID:26467025|PMID:27005929|PMID:27618136|PMID:27884173|PMID:27896284|PMID:28349680|PMID:28492532|PMID:28798025|PMID:29032884|PMID:30847666|PMID:31078652|PMID:31568572|PMID:31737537|PMID:32721234|PMID:32880476|PMID:33297573|PMID:33500567|PMID:33552729|PMID:33742095|PMID:34935411|PMID:4855680|PMID:9536098 11887855 LDB3 LIM domain binding 3 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1351488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:11536076|PMID:12417513|PMID:16287957|PMID:16685657|PMID:18510548|PMID:23399955|PMID:28492532 11887855 LDB3 LIM domain binding 3 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1557802 D RGD:9068941 20220825 MouseDO OMIM:601419 11887855 LDB3 LIM domain binding 3 gene DOID:0080095 myofibrillar myopathy 4 ISO RGD:1351488 D RGD:7240710 20200610 OMIM 11887855 LDB3 LIM domain binding 3 gene DOID:0080095 myofibrillar myopathy 4 ISO RGD:1351488 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: MARKESBERY-GRIGGS DISTAL MYOPATHY | ClinVar Annotator: match by term: Myofibrillar myopathy 4 PMID:11696561|PMID:14660611|PMID:14662268|PMID:15668942|PMID:16199547|PMID:16427346|PMID:16476425|PMID:17097056|PMID:17235623|PMID:17337483|PMID:17394203|PMID:17438622|PMID:17576681|PMID:18055494|PMID:18765652|PMID:19028670|PMID:19377068|PMID:19412328|PMID:19472918|PMID:20301672|PMID:20474083|PMID:20590677|PMID:20852297|PMID:21520333|PMID:21676617|PMID:22337857|PMID:22349865|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23263837|PMID:23299917|PMID:23396983|PMID:23558691|PMID:23785128|PMID:23861362|PMID:23996002|PMID:24033266|PMID:24503780|PMID:24647531|PMID:24668811|PMID:24730657|PMID:25041374|PMID:25163546|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25326637|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:26084686|PMID:26350513|PMID:26383259|PMID:26419279|PMID:26467025|PMID:26636822|PMID:26886200|PMID:27005929|PMID:27135274|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27618136|PMID:27662471|PMID:27884173|PMID:27896284|PMID:28082330|PMID:28349680|PMID:28492532|PMID:28518168|PMID:28704380|PMID:28798025|PMID:28821295|PMID:29032884|PMID:29247119|PMID:29517769|PMID:30026549|PMID:30471092|PMID:30665703|PMID:30775854|PMID:30847666|PMID:31024045|PMID:31078652|PMID:31127727|PMID:31333075|PMID:31376648|PMID:31471687|PMID:31568572|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32183154|PMID:32721234|PMID:32746448|PMID:32880476|PMID:33029862|PMID:33297573|PMID:33308939|PMID:33500567|PMID:33552729|PMID:33742095|PMID:33815637|PMID:34088380|PMID:34935411|PMID:35284542|PMID:4855680|PMID:9536098 11887855 LDB3 LIM domain binding 3 gene DOID:0080100 congenital myopathy ISO RGD:1557802 D RGD:9068941 20220825 MouseDO OMIM:255300 11887855 LDB3 LIM domain binding 3 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1351488 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:23335809|PMID:28492532|PMID:9286463|PMID:9467011 11887855 LDB3 LIM domain binding 3 gene DOID:0080307 myofibrillar myopathy ISO RGD:1351488 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant | ClinVar Annotator: match by term: Myofibrillar myopathy PMID:15668942|PMID:17337483|PMID:18765652|PMID:19377068|PMID:21676617|PMID:23861362|PMID:24033266|PMID:24647531|PMID:24668811|PMID:25208129|PMID:25741868|PMID:26467025|PMID:27618136|PMID:28349680|PMID:28492532|PMID:33742095|PMID:4855680 11887855 LDB3 LIM domain binding 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1351488 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25741868|PMID:28492532|PMID:29247119|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32746448 11887855 LDB3 LIM domain binding 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1351488 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:28492532|PMID:29247119|PMID:30847666|PMID:32746448 11887855 LDB3 LIM domain binding 3 gene DOID:0110320 hypertrophic cardiomyopathy 14 ISO RGD:1351488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 PMID:25741868 11887855 LDB3 LIM domain binding 3 gene DOID:0110423 dilated cardiomyopathy 1C ISO RGD:1351488 D RGD:7240710 20200610 OMIM 11887855 LDB3 LIM domain binding 3 gene DOID:0110423 dilated cardiomyopathy 1C ISO RGD:1351488 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION | ClinVar Annotator: match by term: Dilated cardiomyopathy 1C | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 24 | ClinVar Annotator: match by term: Left ventricular noncompaction 3 PMID:11696561|PMID:14660611|PMID:14662268|PMID:15668942|PMID:16199547|PMID:16427346|PMID:17097056|PMID:17337483|PMID:17576681|PMID:18765652|PMID:19028670|PMID:19377068|PMID:19412328|PMID:19472918|PMID:20474083|PMID:20590677|PMID:20852297|PMID:21676617|PMID:22337857|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23299917|PMID:23558691|PMID:23785128|PMID:23861362|PMID:23996002|PMID:24033266|PMID:24503780|PMID:24647531|PMID:24668811|PMID:25163546|PMID:25208129|PMID:25214167|PMID:25326637|PMID:25351510|PMID:25617006|PMID:25741868|PMID:26084686|PMID:26350513|PMID:26419279|PMID:26467025|PMID:26636822|PMID:27005929|PMID:27135274|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27618136|PMID:27884173|PMID:27896284|PMID:28082330|PMID:28349680|PMID:28492532|PMID:28518168|PMID:28704380|PMID:28798025|PMID:28821295|PMID:29032884|PMID:29247119|PMID:30026549|PMID:30665703|PMID:30847666|PMID:31024045|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32746448|PMID:33029862|PMID:33500567|PMID:33742095|PMID:33815637|PMID:34935411|PMID:35284542|PMID:4855680|PMID:9536098 11887855 LDB3 LIM domain binding 3 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1351488 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:14662268|PMID:17097056|PMID:17235623|PMID:17438622|PMID:19377068|PMID:20852297|PMID:23299917|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24647531|PMID:25041374|PMID:25163546|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:27896284|PMID:28492532|PMID:29032884|PMID:30847666|PMID:31078652|PMID:31737537|PMID:33500567|PMID:34935411 11887855 LDB3 LIM domain binding 3 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1351488 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:14662268|PMID:17097056|PMID:17235623|PMID:17438622|PMID:19377068|PMID:20852297|PMID:23299917|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24647531|PMID:25041374|PMID:25163546|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:27896284|PMID:28492532|PMID:29032884|PMID:30847666|PMID:31078652|PMID:31737537|PMID:33500567|PMID:34935411 11887855 LDB3 LIM domain binding 3 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1351488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:15668942|PMID:20474083|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25326637|PMID:25741868|PMID:27005929|PMID:27884173|PMID:27896284|PMID:28349680|PMID:28492532|PMID:33029862 11887855 LDB3 LIM domain binding 3 gene DOID:0110458 dilated cardiomyopathy 1BB ISO RGD:1351488 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy PMID:19377068|PMID:23396983|PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532 11887855 LDB3 LIM domain binding 3 gene DOID:11720 distal myopathy ISO RGD:1351488 D RGD:9068941 20200611 RGD DNA:missense mutation:exon:p.A165V (human) PMID:17337483|REF_RGD_ID:11068981 11887855 LDB3 LIM domain binding 3 gene DOID:11722 myotonic dystrophy type 1 ISO RGD:1351488 D RGD:9068941 20200611 RGD mRNA, protein:alternative form:exon PMID:24878509|REF_RGD_ID:12792205 11887855 LDB3 LIM domain binding 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1351488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17235623|PMID:17394203|PMID:17438622|PMID:23299917|PMID:24033266|PMID:25041374|PMID:25616123|PMID:25741868|PMID:27532257|PMID:27561770|PMID:27896284|PMID:28492532|PMID:31078652 11887855 LDB3 LIM domain binding 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:14662268|PMID:17097056|PMID:17235623|PMID:17438622|PMID:19377068|PMID:19412328|PMID:20590677|PMID:20852297|PMID:22337857|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23299917|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24647531|PMID:25041374|PMID:25163546|PMID:25351510|PMID:25616123|PMID:25741868|PMID:26419279|PMID:26467025|PMID:26636822|PMID:27435932|PMID:27561770|PMID:27896284|PMID:28166811|PMID:28492532|PMID:29032884|PMID:31078652|PMID:31333075|PMID:31568572 11887855 LDB3 LIM domain binding 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351488 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:14662268|PMID:17097056|PMID:17235623|PMID:17438622|PMID:19377068|PMID:19412328|PMID:20590677|PMID:20852297|PMID:22337857|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23299917|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24647531|PMID:25041374|PMID:25163546|PMID:25351510|PMID:25616123|PMID:25741868|PMID:26419279|PMID:26467025|PMID:26636822|PMID:27435932|PMID:27561770|PMID:27896284|PMID:28492532|PMID:29032884|PMID:31078652|PMID:31333075|PMID:31568572|PMID:31737537 11887855 LDB3 LIM domain binding 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351488 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:14662268|PMID:17097056|PMID:17235623|PMID:17438622|PMID:19377068|PMID:19412328|PMID:20590677|PMID:20852297|PMID:22337857|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23299917|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24647531|PMID:25041374|PMID:25163546|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:26419279|PMID:26467025|PMID:26636822|PMID:27435932|PMID:27561770|PMID:27896284|PMID:28492532|PMID:29032884|PMID:30847666|PMID:31078652|PMID:31333075|PMID:31568572|PMID:31737537|PMID:33500567|PMID:33552729|PMID:34935411 11887855 LDB3 LIM domain binding 3 gene DOID:12930 dilated cardiomyopathy no_association ISO RGD:1351488 D RGD:9068941 20200611 RGD DNA:missense mutation: :p.D117N (human) PMID:26419279|REF_RGD_ID:11527732 11887855 LDB3 LIM domain binding 3 gene DOID:2843 long QT syndrome ISO RGD:1351488 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 11887855 LDB3 LIM domain binding 3 gene DOID:422 congenital structural myopathy ISO RGD:1557802 D RGD:9068941 20200611 RGD PMID:11696561|REF_RGD_ID:1581815 11887855 LDB3 LIM domain binding 3 gene DOID:440 neuromuscular disease ISO RGD:1351488 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:15668942|PMID:17337483|PMID:18765652|PMID:19377068|PMID:21676617|PMID:24033266|PMID:24647531|PMID:24668811|PMID:25208129|PMID:25741868|PMID:26467025|PMID:27618136|PMID:28349680|PMID:28492532|PMID:33742095|PMID:4855680 11887855 LDB3 LIM domain binding 3 gene DOID:630 genetic disease ISO RGD:1351488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11887855 LDB3 LIM domain binding 3 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1351488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31333075|PMID:31568572 11887855 LDB3 LIM domain binding 3 gene DOID:9000596 Isolated Noncompaction of the Ventricular Myocardium ISO RGD:1351488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated Noncompaction of the Ventricular Myocardium PMID:25741868|PMID:28492532 11887855 LDB3 LIM domain binding 3 gene DOID:9000655 Hereditary Motor Neuropathy with Myopathic Features ISO RGD:1351488 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neuromyopathy PMID:15668942|PMID:17337483|PMID:18765652|PMID:19377068|PMID:21676617|PMID:24033266|PMID:24647531|PMID:24668811|PMID:25208129|PMID:25741868|PMID:26467025|PMID:27618136|PMID:28349680|PMID:28492532|PMID:33742095|PMID:4855680 11887855 LDB3 LIM domain binding 3 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1351488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868 11887855 LDB3 LIM domain binding 3 gene DOID:9005160 Myofibrillar Myopathy, ZASP-Related ISO RGD:1351488 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy, ZASP-related PMID:11696561|PMID:14660611|PMID:14662268|PMID:15668942|PMID:16199547|PMID:16427346|PMID:17097056|PMID:17235623|PMID:17337483|PMID:17394203|PMID:17438622|PMID:17576681|PMID:18765652|PMID:19028670|PMID:19377068|PMID:19412328|PMID:19472918|PMID:20474083|PMID:20590677|PMID:20852297|PMID:21676617|PMID:22337857|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23299917|PMID:23396983|PMID:23558691|PMID:23785128|PMID:23861362|PMID:23996002|PMID:24033266|PMID:24503780|PMID:24647531|PMID:24668811|PMID:24730657|PMID:25041374|PMID:25163546|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25326637|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:26084686|PMID:26350513|PMID:26383259|PMID:26419279|PMID:26467025|PMID:26636822|PMID:26886200|PMID:27005929|PMID:27135274|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27618136|PMID:27662471|PMID:27884173|PMID:27896284|PMID:28082330|PMID:28349680|PMID:28492532|PMID:28518168|PMID:28704380|PMID:28798025|PMID:28821295|PMID:29032884|PMID:29247119|PMID:29517769|PMID:30026549|PMID:30665703|PMID:30775854|PMID:30847666|PMID:31024045|PMID:31078652|PMID:31333075|PMID:31376648|PMID:31471687|PMID:31568572|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32746448|PMID:32880476|PMID:33029862|PMID:33297573|PMID:33500567|PMID:33552729|PMID:33742095|PMID:33815637|PMID:34935411|PMID:35284542|PMID:4855680|PMID:9536098 11887855 LDB3 LIM domain binding 3 gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:1351488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:25741868|PMID:28492532 11887892 CYP2R1 cytochrome P450 family 2 subfamily R member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1348432 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11887892 CYP2R1 cytochrome P450 family 2 subfamily R member 1 gene DOID:0080886 vitamin D-dependent rickets type 1A ISO RGD:1348432 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 PMID:10969262|PMID:15128933|PMID:16549493|PMID:24033266|PMID:25741868|PMID:25942481|PMID:28492532|PMID:28548312|PMID:8201479 11887892 CYP2R1 cytochrome P450 family 2 subfamily R member 1 gene DOID:0080887 vitamin D-dependent rickets type 1B ISO RGD:1348432 D RGD:7240710 20180130 OMIM 11887892 CYP2R1 cytochrome P450 family 2 subfamily R member 1 gene DOID:0080887 vitamin D-dependent rickets type 1B ISO RGD:1348432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1B | ClinVar Annotator: match by term: Vitamin D hydroxylation-deficient rickets, type 1B PMID:10969262|PMID:15128933|PMID:16549493|PMID:22855339|PMID:24033266|PMID:25741868|PMID:25942481|PMID:27716192|PMID:28492532|PMID:28548312|PMID:32115644|PMID:33715104|PMID:8201479 11887892 CYP2R1 cytochrome P450 family 2 subfamily R member 1 gene DOID:1059 intellectual disability ISO RGD:1348432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11887892 CYP2R1 cytochrome P450 family 2 subfamily R member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1348432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to PMID:28492532 11887892 CYP2R1 cytochrome P450 family 2 subfamily R member 1 gene DOID:5082 liver cirrhosis ISO RGD:1348432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24381012 11887892 CYP2R1 cytochrome P450 family 2 subfamily R member 1 gene DOID:630 genetic disease ISO RGD:1348432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11887892 CYP2R1 cytochrome P450 family 2 subfamily R member 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1348432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24381012 11887892 CYP2R1 cytochrome P450 family 2 subfamily R member 1 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1348432 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:IVSII+1303G>A rs10741657 (human) PMID:17607662|REF_RGD_ID:2315692 11887909 TSEN2 tRNA splicing endonuclease subunit 2 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1603298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:16199547|PMID:18414213|PMID:18711368|PMID:20301773|PMID:20952379|PMID:25741868|PMID:28492532 11887909 TSEN2 tRNA splicing endonuclease subunit 2 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1603298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:16199547|PMID:18414213|PMID:18711368|PMID:20301773|PMID:20952379|PMID:25741868|PMID:28492532 11887909 TSEN2 tRNA splicing endonuclease subunit 2 gene DOID:0060268 pontocerebellar hypoplasia type 2B ISO RGD:1603298 D RGD:7240710 20180130 OMIM 11887909 TSEN2 tRNA splicing endonuclease subunit 2 gene DOID:0060268 pontocerebellar hypoplasia type 2B ISO RGD:1603298 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2B PMID:18414213|PMID:18711368|PMID:20301773|PMID:20952379|PMID:23562994|PMID:25741868|PMID:28492532|PMID:34964109 11887909 TSEN2 tRNA splicing endonuclease subunit 2 gene DOID:0080690 RASopathy ISO RGD:1603298 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11887909 TSEN2 tRNA splicing endonuclease subunit 2 gene DOID:1059 intellectual disability ISO RGD:1603298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 11887909 TSEN2 tRNA splicing endonuclease subunit 2 gene DOID:10907 microcephaly ISO RGD:1603298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 11887909 TSEN2 tRNA splicing endonuclease subunit 2 gene DOID:480 movement disease ISO RGD:1603298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 11887909 TSEN2 tRNA splicing endonuclease subunit 2 gene DOID:630 genetic disease ISO RGD:1603298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11887909 TSEN2 tRNA splicing endonuclease subunit 2 gene DOID:9000123 Deglutition Disorders ISO RGD:1603298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 11887909 TSEN2 tRNA splicing endonuclease subunit 2 gene DOID:9000343 Vision Disorders ISO RGD:1603298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 11887909 TSEN2 tRNA splicing endonuclease subunit 2 gene DOID:9004657 Weight Gain ISO RGD:1603298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11887927 RPTOR regulatory associated protein of MTOR complex 1 gene DOID:630 genetic disease ISO RGD:1603019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11887927 RPTOR regulatory associated protein of MTOR complex 1 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1603019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 11887927 RPTOR regulatory associated protein of MTOR complex 1 gene DOID:9009121 lung metastasis ISO RGD:1323418 D RGD:9068941 20220630 RGD PMID:29809146|REF_RGD_ID:152995516 11887927 RPTOR regulatory associated protein of MTOR complex 1 gene DOID:9923 developmental coordination disorder ISO RGD:1603019 D RGD:9068941 20201218 CTD CTD Direct Evidence: therapeutic PMID:32773031 11887966 MYOM1 myomesin 1 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1346217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:28492532 11887966 MYOM1 myomesin 1 gene DOID:0050700 cardiomyopathy ISO RGD:1346217 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 11887966 MYOM1 myomesin 1 gene DOID:0060319 cardiac arrest ISO RGD:1346217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest 11887966 MYOM1 myomesin 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1346217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11887966 MYOM1 myomesin 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1346217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:28492532 11887966 MYOM1 myomesin 1 gene DOID:0110880 holoprosencephaly 4 ISO RGD:1346217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 4 PMID:16199538|PMID:16962354|PMID:17001671|PMID:19431187|PMID:22125506|PMID:28492532 11887966 MYOM1 myomesin 1 gene DOID:0111193 facioscapulohumeral muscular dystrophy 2 ISO RGD:1346217 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 PMID:28492532 11887966 MYOM1 myomesin 1 gene DOID:1059 intellectual disability ISO RGD:1346217 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11887966 MYOM1 myomesin 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1346217 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:16199547|PMID:17576681|PMID:21256114|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26036949|PMID:26656175|PMID:27600940|PMID:27662471|PMID:28323875|PMID:28492532|PMID:28986455|PMID:28991257|PMID:31130284|PMID:32368696|PMID:33658040|PMID:9536098 11887966 MYOM1 myomesin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1346217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24033266|PMID:28492532 11887966 MYOM1 myomesin 1 gene DOID:630 genetic disease ISO RGD:1346217 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 11887966 MYOM1 myomesin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11887966 MYOM1 myomesin 1 gene DOID:9005523 Majeed Syndrome ISO RGD:1346217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Majeed syndrome PMID:28492532 11887966 MYOM1 myomesin 1 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1346217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:24033266|PMID:28492532 11887966 MYOM1 myomesin 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1346217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949|PMID:28492532|PMID:31130284 11887966 MYOM1 myomesin 1 gene DOID:9993 hypoglycemia ISO RGD:1346217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoglycemia PMID:25741868|PMID:28492532 11888015 SLC7A11 solute carrier family 7 member 11 gene DOID:0050865 tongue squamous cell carcinoma severity ISO RGD:1319531 D RGD:9068941 20220225 RGD PMID:24762957|REF_RGD_ID:151361157 11888015 SLC7A11 solute carrier family 7 member 11 gene DOID:2223 platelet storage pool deficiency ISO RGD:1319532 D RGD:9068941 20220825 MouseDO OMIM:185050 11888015 SLC7A11 solute carrier family 7 member 11 gene DOID:2773 contact dermatitis ISO RGD:1319531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11888015 SLC7A11 solute carrier family 7 member 11 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1319532 D RGD:9068941 20220825 MouseDO 11888015 SLC7A11 solute carrier family 7 member 11 gene DOID:630 genetic disease ISO RGD:1319531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888015 SLC7A11 solute carrier family 7 member 11 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1319531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19015640 11888033 OGN osteoglycin gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1317793 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 11888033 OGN osteoglycin gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1317793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 11888033 OGN osteoglycin gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1317793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 11888033 OGN osteoglycin gene DOID:630 genetic disease ISO RGD:1317793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888033 OGN osteoglycin gene DOID:9000965 Neoplasm Metastasis ISO RGD:1317793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 11888044 MNDA myeloid cell nuclear differentiation antigen gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1314505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11888044 MNDA myeloid cell nuclear differentiation antigen gene DOID:1540 parathyroid carcinoma ISO RGD:1314505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11888044 MNDA myeloid cell nuclear differentiation antigen gene DOID:630 genetic disease ISO RGD:1314505 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11888044 MNDA myeloid cell nuclear differentiation antigen gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11888060 MBTD1 mbt domain containing 1 gene DOID:630 genetic disease ISO RGD:1348935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888099 CEBPZ CCAAT enhancer binding protein zeta gene DOID:0080690 RASopathy ISO RGD:1312755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11888099 CEBPZ CCAAT enhancer binding protein zeta gene DOID:630 genetic disease ISO RGD:1312755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888119 GLYAT glycine-N-acyltransferase gene DOID:1059 intellectual disability ISO RGD:1316190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11888119 GLYAT glycine-N-acyltransferase gene DOID:630 genetic disease ISO RGD:1316190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888129 SLC5A10 solute carrier family 5 member 10 gene DOID:0050777 Joubert syndrome ISO RGD:1313138 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11888129 SLC5A10 solute carrier family 5 member 10 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1313138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 11888129 SLC5A10 solute carrier family 5 member 10 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1313138 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 11888129 SLC5A10 solute carrier family 5 member 10 gene DOID:12849 autistic disorder ISO RGD:1313138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11888129 SLC5A10 solute carrier family 5 member 10 gene DOID:630 genetic disease ISO RGD:1313138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888129 SLC5A10 solute carrier family 5 member 10 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1313138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 11888159 TACR1 tachykinin receptor 1 gene DOID:0060001 withdrawal disorder ISO RGD:731008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7692360 11888159 TACR1 tachykinin receptor 1 gene DOID:0060180 colitis ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:18715640|REF_RGD_ID:2304260 11888159 TACR1 tachykinin receptor 1 gene DOID:0080821 exercise-induced bronchoconstriction ISO RGD:731008 D RGD:9068941 20200609 RGD PMID:8630576|REF_RGD_ID:5147837 11888159 TACR1 tachykinin receptor 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:3811 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung PMID:12857498|REF_RGD_ID:5147821 11888159 TACR1 tachykinin receptor 1 gene DOID:10763 hypertension ISO RGD:731008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21294877 11888159 TACR1 tachykinin receptor 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:731008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19204064 11888159 TACR1 tachykinin receptor 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:731009 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 11888159 TACR1 tachykinin receptor 1 gene DOID:11396 pulmonary edema ISO RGD:731009 D RGD:9068941 20200609 RGD PMID:19633070|REF_RGD_ID:5147816 11888159 TACR1 tachykinin receptor 1 gene DOID:1176 bronchial disease ISO RGD:731008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15774269 11888159 TACR1 tachykinin receptor 1 gene DOID:1273 respiratory syncytial virus infectious disease treatment ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:10516226|REF_RGD_ID:5147822 11888159 TACR1 tachykinin receptor 1 gene DOID:1574 alcohol use disorder ISO RGD:731008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19204064 11888159 TACR1 tachykinin receptor 1 gene DOID:1679 cystitis ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:17382773|REF_RGD_ID:2304340 11888159 TACR1 tachykinin receptor 1 gene DOID:2841 asthma ISO RGD:3811 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung PMID:16409782|REF_RGD_ID:5147475 11888159 TACR1 tachykinin receptor 1 gene DOID:2841 asthma ISO RGD:3811 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:17392578|REF_RGD_ID:2304339 11888159 TACR1 tachykinin receptor 1 gene DOID:2841 asthma ISO RGD:731008 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:8240667|REF_RGD_ID:5147645 11888159 TACR1 tachykinin receptor 1 gene DOID:3312 bipolar disorder ISO RGD:731008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19204064 11888159 TACR1 tachykinin receptor 1 gene DOID:4481 allergic rhinitis ISO RGD:3811 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal mucosa PMID:12768696|REF_RGD_ID:5147835 11888159 TACR1 tachykinin receptor 1 gene DOID:4989 pancreatitis ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:18580444|REF_RGD_ID:2304266 11888159 TACR1 tachykinin receptor 1 gene DOID:4989 pancreatitis ISO RGD:731009 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung, pancreas PMID:16369913|REF_RGD_ID:5147636 11888159 TACR1 tachykinin receptor 1 gene DOID:630 genetic disease ISO RGD:731008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888159 TACR1 tachykinin receptor 1 gene DOID:6432 pulmonary hypertension ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:12662901|REF_RGD_ID:5147638 11888159 TACR1 tachykinin receptor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:18945947|REF_RGD_ID:2304258 11888159 TACR1 tachykinin receptor 1 gene DOID:9000310 Lung Injury ISO RGD:731009 D RGD:9068941 20200609 RGD PMID:17565047|REF_RGD_ID:5147820 11888159 TACR1 tachykinin receptor 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:17542534|REF_RGD_ID:1626451 11888159 TACR1 tachykinin receptor 1 gene DOID:9000641 Pain ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:18407414|REF_RGD_ID:2304276 11888159 TACR1 tachykinin receptor 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:18063836|REF_RGD_ID:5147833 11888159 TACR1 tachykinin receptor 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:731009 D RGD:9068941 20200609 RGD PMID:15272104|REF_RGD_ID:5147834 11888159 TACR1 tachykinin receptor 1 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:20176632|REF_RGD_ID:5147811 11888159 TACR1 tachykinin receptor 1 gene DOID:9001579 Neurogenic Inflammation ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:18326823|REF_RGD_ID:2304321 11888159 TACR1 tachykinin receptor 1 gene DOID:9001579 Neurogenic Inflammation ISO RGD:731008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17257769|PMID:21570423 11888159 TACR1 tachykinin receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:731008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964684|PMID:17123731 11888159 TACR1 tachykinin receptor 1 gene DOID:9004610 Acute Lung Injury ISO RGD:731009 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:18523300|REF_RGD_ID:5147819 11888159 TACR1 tachykinin receptor 1 gene DOID:9004657 Weight Gain ISO RGD:731009 D RGD:9068941 20200609 RGD PMID:21467195|REF_RGD_ID:5147668 11888159 TACR1 tachykinin receptor 1 gene DOID:9005372 Inflammation ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:18053315|REF_RGD_ID:2304327 11888159 TACR1 tachykinin receptor 1 gene DOID:9006024 Hypotension ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:18337316|PMID:19261870|REF_RGD_ID:2304250|REF_RGD_ID:2304320 11888159 TACR1 tachykinin receptor 1 gene DOID:9007001 Bradycardia ISO RGD:731008 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9696263 11888159 TACR1 tachykinin receptor 1 gene DOID:9007480 Hyperoxia ISO RGD:731009 D RGD:9068941 20200609 RGD PMID:19633070|REF_RGD_ID:5147816 11888159 TACR1 tachykinin receptor 1 gene DOID:9007730 Burns ISO RGD:731009 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:18523300|REF_RGD_ID:5147819 11888159 TACR1 tachykinin receptor 1 gene DOID:9008385 Vomiting ISO RGD:731008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15680276 11888159 TACR1 tachykinin receptor 1 gene DOID:9220 central sleep apnea ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:18420958|REF_RGD_ID:2304275 11888159 TACR1 tachykinin receptor 1 gene DOID:9675 pulmonary emphysema ISO RGD:731009 D RGD:9068941 20200609 RGD PMID:19445658|REF_RGD_ID:5147818 11888176 LOC100982559 NADH-cytochrome b5 reductase 3 gene DOID:0060076 estrogen-receptor negative breast cancer disease_progression ISO RGD:731731 D RGD:9068941 20200609 RGD PMID:26351264|REF_RGD_ID:11040536 11888176 LOC100982559 NADH-cytochrome b5 reductase 3 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:731731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 11888176 LOC100982559 NADH-cytochrome b5 reductase 3 gene DOID:1059 intellectual disability ISO RGD:731731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 11888176 LOC100982559 NADH-cytochrome b5 reductase 3 gene DOID:10783 methemoglobinemia ISO RGD:731731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16469290 11888176 LOC100982559 NADH-cytochrome b5 reductase 3 gene DOID:10783 methemoglobinemia ISO RGD:731731 D RGD:9068941 20200609 RGD DNA:point mutations, splice-site mutation: ;535G>A, 757G>A, 379A>G, IVS4-2A>G PMID:11295830|REF_RGD_ID:1599771 11888176 LOC100982559 NADH-cytochrome b5 reductase 3 gene DOID:1612 breast cancer susceptibility ISO RGD:731731 D RGD:9068941 20200609 RGD DNA:polymporhism:(rs8190370)(human) PMID:25225034|REF_RGD_ID:11040537 11888176 LOC100982559 NADH-cytochrome b5 reductase 3 gene DOID:630 genetic disease ISO RGD:731731 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18318771|PMID:21349748|PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654|PMID:9886302 11888176 LOC100982559 NADH-cytochrome b5 reductase 3 gene DOID:9000781 Cyanosis ISO RGD:731731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16469290 11888176 LOC100982559 NADH-cytochrome b5 reductase 3 gene DOID:9002339 NADH Cytochrome B5 Reductase Deficiency ISO RGD:731731 D RGD:7240710 20180130 OMIM 11888176 LOC100982559 NADH-cytochrome b5 reductase 3 gene DOID:9002339 NADH Cytochrome B5 Reductase Deficiency ISO RGD:731731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary methemoglobinemia | ClinVar Annotator: match by term: METHEMOGLOBINEMIA, TYPE II | ClinVar Annotator: match by term: Methemoglobinemia, type I | ClinVar Annotator: match by term: NADH methemoglobin reductase deficiency PMID:10807796|PMID:10874300|PMID:11159544|PMID:11295830|PMID:12393396|PMID:12756024|PMID:1400360|PMID:15921385|PMID:15953014|PMID:16199547|PMID:16310381|PMID:16748235|PMID:1707593|PMID:18318771|PMID:1898726|PMID:19062529|PMID:2107882|PMID:21349748|PMID:22627575|PMID:23866629|PMID:24033266|PMID:24266649|PMID:25058800|PMID:25741868|PMID:27879543|PMID:28492532|PMID:29482478|PMID:3680497|PMID:4063522|PMID:7668255|PMID:7718898|PMID:8119939|PMID:8427971|PMID:9266404|PMID:9695975 11888176 LOC100982559 NADH-cytochrome b5 reductase 3 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:731731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 11888192 LOC100983089 olfactory receptor 52H1 gene DOID:630 genetic disease ISO RGD:1344719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888197 LYSET lysosomal enzyme trafficking factor gene DOID:0080054 achondrogenesis type IA ISO RGD:1349199 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11888197 LYSET lysosomal enzyme trafficking factor gene DOID:1059 intellectual disability ISO RGD:1349199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11888197 LYSET lysosomal enzyme trafficking factor gene DOID:630 genetic disease ISO RGD:1349199 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888197 LYSET lysosomal enzyme trafficking factor gene DOID:9005886 DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE ISO RGD:1349199 D RGD:7240710 20210818 OMIM 11888197 LYSET lysosomal enzyme trafficking factor gene DOID:9005886 DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE ISO RGD:1349199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE PMID:33252156 11888204 PSMD5 proteasome 26S subunit, non-ATPase 5 gene DOID:630 genetic disease ISO RGD:1318199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888222 SPRED1 sprouty related EVH1 domain containing 1 gene DOID:0050469 Costello syndrome ISO RGD:1318683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Costello syndrome 11888222 SPRED1 sprouty related EVH1 domain containing 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1318683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17704776 11888222 SPRED1 sprouty related EVH1 domain containing 1 gene DOID:0111683 neurofibromatosis-Noonan syndrome ISO RGD:1318683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome PMID:28492532 11888222 SPRED1 sprouty related EVH1 domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1318683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11888222 SPRED1 sprouty related EVH1 domain containing 1 gene DOID:3490 Noonan syndrome ISO RGD:1318683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome PMID:28492532 11888222 SPRED1 sprouty related EVH1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1318683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19920235|PMID:21089071|PMID:21548021|PMID:22751498|PMID:2275304|PMID:22753041|PMID:24033266|PMID:24334617|PMID:25741868|PMID:26214305|PMID:26635368|PMID:27763634|PMID:28492532|PMID:31401120|PMID:31443423|PMID:9536098 11888222 SPRED1 sprouty related EVH1 domain containing 1 gene DOID:8712 neurofibromatosis ISO RGD:1318683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis PMID:17704776|PMID:24469042|PMID:25741868|PMID:28492532 11888222 SPRED1 sprouty related EVH1 domain containing 1 gene DOID:9002453 Cafe-au-Lait Spots ISO RGD:1318683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17704776 11888222 SPRED1 sprouty related EVH1 domain containing 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1318683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17704776 11888222 SPRED1 sprouty related EVH1 domain containing 1 gene DOID:9007799 Legius Syndrome ISO RGD:1318683 D RGD:7240710 20180130 OMIM 11888222 SPRED1 sprouty related EVH1 domain containing 1 gene DOID:9007799 Legius Syndrome ISO RGD:1318683 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Legius syndrome | ClinVar Annotator: match by term: Neurofibromatosis type 1 like syndrome PMID:15683364|PMID:16199547|PMID:17576681|PMID:17704776|PMID:19366998|PMID:19443465|PMID:19920235|PMID:20179001|PMID:20571013|PMID:20945555|PMID:21089071|PMID:21520333|PMID:21548021|PMID:21649642|PMID:22751498|PMID:2275304|PMID:22753041|PMID:24033266|PMID:24334617|PMID:24469042|PMID:25074460|PMID:25741868|PMID:25883013|PMID:25981987|PMID:26084686|PMID:26214305|PMID:26635368|PMID:27081556|PMID:27763634|PMID:28150585|PMID:28492532|PMID:28747691|PMID:29758562|PMID:31370276|PMID:31401120|PMID:31443423|PMID:31573083|PMID:31629629|PMID:32107864|PMID:32396270|PMID:32575496|PMID:32806529|PMID:9536098 11888222 SPRED1 sprouty related EVH1 domain containing 1 gene DOID:9256 colorectal cancer ISO RGD:1318683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11888236 RANGAP1 Ran GTPase activating protein 1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1321254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27150054 11888236 RANGAP1 Ran GTPase activating protein 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1321254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11888236 RANGAP1 Ran GTPase activating protein 1 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1321254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 11888236 RANGAP1 Ran GTPase activating protein 1 gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:1321254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 PMID:28492532 11888236 RANGAP1 Ran GTPase activating protein 1 gene DOID:11446 sciatic neuropathy ISO RGD:1310380 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve, axon, cytoplasm (rat) PMID:18667152|REF_RGD_ID:9835000 11888236 RANGAP1 Ran GTPase activating protein 1 gene DOID:630 genetic disease ISO RGD:1321254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888236 RANGAP1 Ran GTPase activating protein 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:1310380 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery, intima (rat) PMID:24988324|REF_RGD_ID:9835414 11888274 TNK2 tyrosine kinase non receptor 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346409 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:25741868 11888274 TNK2 tyrosine kinase non receptor 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1346409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11888274 TNK2 tyrosine kinase non receptor 2 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1346409 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 11888274 TNK2 tyrosine kinase non receptor 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346409 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868 11888274 TNK2 tyrosine kinase non receptor 2 gene DOID:14330 Parkinson's disease ISO RGD:1346409 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Parkinson disease PMID:23686771|PMID:25741868|PMID:26595808|PMID:28492532 11888274 TNK2 tyrosine kinase non receptor 2 gene DOID:1826 epilepsy ISO RGD:1346409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile epilepsy PMID:23686771|PMID:25741868|PMID:26595808|PMID:28492532 11888274 TNK2 tyrosine kinase non receptor 2 gene DOID:630 genetic disease ISO RGD:1346409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11888274 TNK2 tyrosine kinase non receptor 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:1346409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 11888274 TNK2 tyrosine kinase non receptor 2 gene DOID:9004367 Autosomal Recessive Infantile Epilepsy ISO RGD:1346409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive infantile epilepsy PMID:23686771|PMID:25741868|PMID:26595808|PMID:28492532 11888274 TNK2 tyrosine kinase non receptor 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1346409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11888307 RPS3 ribosomal protein S3 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:736568 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11888307 RPS3 ribosomal protein S3 gene DOID:1059 intellectual disability ISO RGD:736568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11888307 RPS3 ribosomal protein S3 gene DOID:1909 melanoma ISO RGD:736568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11888307 RPS3 ribosomal protein S3 gene DOID:9003882 Chromosomal Instability ISO RGD:736568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25341047 11888319 LOC100986475 metallothionein-2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1352146 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11888319 LOC100986475 metallothionein-2 gene DOID:0060496 respiratory allergy ISO RGD:1617617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085522 11888319 LOC100986475 metallothionein-2 gene DOID:0080600 COVID-19 ISO RGD:1352146 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD14 monocytes (human) PMID:32377375|REF_RGD_ID:32716422 11888319 LOC100986475 metallothionein-2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1352146 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11888319 LOC100986475 metallothionein-2 gene DOID:10584 retinitis pigmentosa ISO RGD:1592345 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (rat) PMID:20357188|REF_RGD_ID:6483819 11888319 LOC100986475 metallothionein-2 gene DOID:10584 retinitis pigmentosa ISO RGD:1617617 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (mouse) PMID:20357188|REF_RGD_ID:6483819 11888319 LOC100986475 metallothionein-2 gene DOID:10652 Alzheimer's disease ISO RGD:1592345 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex (rat) PMID:16914836|REF_RGD_ID:10412320 11888319 LOC100986475 metallothionein-2 gene DOID:10652 Alzheimer's disease ISO RGD:1617617 D RGD:9068941 20200609 RGD PMID:22766972|REF_RGD_ID:10412319 11888319 LOC100986475 metallothionein-2 gene DOID:1074 kidney failure ISO RGD:1592345 D RGD:9068941 20200609 RGD associated with Cadmium Poisoning;mRNA:increased expression:kidney PMID:16226777|REF_RGD_ID:6483854 11888319 LOC100986475 metallothionein-2 gene DOID:11054 urinary bladder cancer ISO RGD:1352146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16565513|PMID:7729958 11888319 LOC100986475 metallothionein-2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1352146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 11888319 LOC100986475 metallothionein-2 gene DOID:114 heart disease ISO RGD:1352146 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16144979 11888319 LOC100986475 metallothionein-2 gene DOID:11573 listeriosis ISO RGD:1617617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19576872 11888319 LOC100986475 metallothionein-2 gene DOID:1222 cartilage disease ISO RGD:1617617 D RGD:9068941 20200609 RGD Auricular Chondritis; mRNA:increased expression:ear (mouse) PMID:17606507|REF_RGD_ID:6483833 11888319 LOC100986475 metallothionein-2 gene DOID:13001 carotid stenosis ISO RGD:1352146 D RGD:9068941 20200609 RGD DNA:snp:5' utr:g.+838C>G (human) PMID:17622311|REF_RGD_ID:6483844 11888319 LOC100986475 metallothionein-2 gene DOID:1561 cognitive disorder ISO RGD:1617617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18226494 11888319 LOC100986475 metallothionein-2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1352146 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11888319 LOC100986475 metallothionein-2 gene DOID:224 transient cerebral ischemia ISO RGD:1592345 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:10884303|REF_RGD_ID:10412650 11888319 LOC100986475 metallothionein-2 gene DOID:2468 psychotic disorder ISO RGD:1352146 D RGD:9068941 20200609 RGD mRNA:increased expression:prefrontal cortex (human) PMID:18992145|REF_RGD_ID:6480540 11888319 LOC100986475 metallothionein-2 gene DOID:332 amyotrophic lateral sclerosis onset ISO RGD:1617617 D RGD:9068941 20200609 RGD mRNA:increased expression:soleus muscle, gastrocnemius muscle (mouse) PMID:18000159|REF_RGD_ID:6482832 11888319 LOC100986475 metallothionein-2 gene DOID:3770 pulmonary fibrosis ISO RGD:1617617 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18528683 11888319 LOC100986475 metallothionein-2 gene DOID:480 movement disease ISO RGD:1617617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16216453 11888319 LOC100986475 metallothionein-2 gene DOID:571 median neuropathy ISO RGD:1592345 D RGD:9068941 20200609 RGD mRNA:decreased expression:left median nerve (rat) PMID:22253198|REF_RGD_ID:6483815 11888319 LOC100986475 metallothionein-2 gene DOID:630 genetic disease ISO RGD:1352146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888319 LOC100986475 metallothionein-2 gene DOID:684 hepatocellular carcinoma ISO RGD:1352146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17363595|PMID:28284560 11888319 LOC100986475 metallothionein-2 gene DOID:784 chronic kidney disease ISO RGD:1352146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27122239 11888319 LOC100986475 metallothionein-2 gene DOID:8466 retinal degeneration ISO RGD:1617617 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:23132798|REF_RGD_ID:10412646 11888319 LOC100986475 metallothionein-2 gene DOID:8634 prostate carcinoma in situ ISO RGD:1352146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16574721 11888319 LOC100986475 metallothionein-2 gene DOID:8927 learning disability ISO RGD:1617617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16216453 11888319 LOC100986475 metallothionein-2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1352146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14503839 11888319 LOC100986475 metallothionein-2 gene DOID:9000310 Lung Injury ISO RGD:1617617 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18528683 11888319 LOC100986475 metallothionein-2 gene DOID:9000310 Lung Injury ISO RGD:1617617 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:17215068|REF_RGD_ID:6483842 11888319 LOC100986475 metallothionein-2 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1352146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27122239 11888319 LOC100986475 metallothionein-2 gene DOID:9000998 Brain Injuries ISO RGD:1592345 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus (rat) PMID:15650329|REF_RGD_ID:6483847 11888319 LOC100986475 metallothionein-2 gene DOID:9000998 Brain Injuries ISO RGD:1617617 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (mouse) PMID:22363575|REF_RGD_ID:6483812 11888319 LOC100986475 metallothionein-2 gene DOID:9001553 Spinal Cord Compression ISO RGD:1617617 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord (mouse) PMID:15592854|REF_RGD_ID:6483848 11888319 LOC100986475 metallothionein-2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11888319 LOC100986475 metallothionein-2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16574721|PMID:17914565 11888319 LOC100986475 metallothionein-2 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1592345 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex, striatum (rat) PMID:16034371|REF_RGD_ID:2306905 11888319 LOC100986475 metallothionein-2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1617617 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (mouse) PMID:19619133|REF_RGD_ID:6484112 11888319 LOC100986475 metallothionein-2 gene DOID:9002955 Nerve Degeneration ISO RGD:1617617 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11835189 11888319 LOC100986475 metallothionein-2 gene DOID:9003936 Cardiomegaly ISO RGD:1352146 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11309296 11888319 LOC100986475 metallothionein-2 gene DOID:9004009 Reperfusion Injury ISO RGD:1617617 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebrum (mouse) PMID:12122050|REF_RGD_ID:6483850 11888319 LOC100986475 metallothionein-2 gene DOID:9004484 Sepsis ISO RGD:1617617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374846 11888319 LOC100986475 metallothionein-2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1352146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21187089 11888319 LOC100986475 metallothionein-2 gene DOID:9004610 Acute Lung Injury ISO RGD:1617617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16166738 11888319 LOC100986475 metallothionein-2 gene DOID:9004634 Cardiac Output, Low ISO RGD:1617617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30096613 11888319 LOC100986475 metallothionein-2 gene DOID:9004713 Acute-Phase Reaction ISO RGD:1592345 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:10535526|REF_RGD_ID:6484135 11888319 LOC100986475 metallothionein-2 gene DOID:9005930 Endotoxemia ISO RGD:1592345 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:22100509|REF_RGD_ID:6483852 11888319 LOC100986475 metallothionein-2 gene DOID:9007480 Hyperoxia ISO RGD:1617617 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:8110467|REF_RGD_ID:6484136 11888319 LOC100986475 metallothionein-2 gene DOID:9351 diabetes mellitus ISO RGD:1352146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27122239 11888319 LOC100986475 metallothionein-2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352146 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.K51R (rs8052394) (human) PMID:18349110|REF_RGD_ID:6483853 11888319 LOC100986475 metallothionein-2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352146 D RGD:9068941 20200609 RGD associated with Atherosclerosis; DNA:snp:promoter:g.-209A>G (human) PMID:16518702|REF_RGD_ID:6483843 11888319 LOC100986475 metallothionein-2 gene DOID:9669 senile cataract ISO RGD:1352146 D RGD:9068941 20200609 RGD PMID:9804143|REF_RGD_ID:10412648 11888326 NUMBL NUMB like endocytic adaptor protein gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1316854 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11888326 NUMBL NUMB like endocytic adaptor protein gene DOID:1342 congenital hypoplastic anemia ISO RGD:1316854 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11888326 NUMBL NUMB like endocytic adaptor protein gene DOID:2340 craniosynostosis ISO RGD:1316854 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11888326 NUMBL NUMB like endocytic adaptor protein gene DOID:630 genetic disease ISO RGD:1316854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888326 NUMBL NUMB like endocytic adaptor protein gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1316854 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11888326 NUMBL NUMB like endocytic adaptor protein gene DOID:9269 maple syrup urine disease ISO RGD:1316854 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11888351 ZCWPW2 zinc finger CW-type and PWWP domain containing 2 gene DOID:630 genetic disease ISO RGD:1347606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888366 AP5B1 adaptor related protein complex 5 subunit beta 1 gene DOID:1059 intellectual disability ISO RGD:1606994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11888366 AP5B1 adaptor related protein complex 5 subunit beta 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606994 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11888366 AP5B1 adaptor related protein complex 5 subunit beta 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1606994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28832565 11888366 AP5B1 adaptor related protein complex 5 subunit beta 1 gene DOID:2746 glycogen storage disease V ISO RGD:1606994 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11888366 AP5B1 adaptor related protein complex 5 subunit beta 1 gene DOID:630 genetic disease ISO RGD:1606994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888366 AP5B1 adaptor related protein complex 5 subunit beta 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1606994 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11888366 AP5B1 adaptor related protein complex 5 subunit beta 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1606994 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 11888371 ADHFE1 alcohol dehydrogenase iron containing 1 gene DOID:630 genetic disease ISO RGD:1318880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888371 ADHFE1 alcohol dehydrogenase iron containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11888393 KANSL2 KAT8 regulatory NSL complex subunit 2 gene DOID:1059 intellectual disability ISO RGD:1606280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11888393 KANSL2 KAT8 regulatory NSL complex subunit 2 gene DOID:630 genetic disease ISO RGD:1606280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888414 TSPO translocator protein gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:737564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11888414 TSPO translocator protein gene DOID:0080600 COVID-19 ISO RGD:737564 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11888414 TSPO translocator protein gene DOID:1059 intellectual disability ISO RGD:737564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11888414 TSPO translocator protein gene DOID:13413 hepatic encephalopathy ISO RGD:737564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10206825|PMID:10564534 11888414 TSPO translocator protein gene DOID:14502 cholesterol ester storage disease ISO RGD:2228 D RGD:9068941 20211008 RGD PMID:29074640|REF_RGD_ID:150429771 11888414 TSPO translocator protein gene DOID:630 genetic disease ISO RGD:737564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888414 TSPO translocator protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11888414 TSPO translocator protein gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:737564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 11888414 TSPO translocator protein gene DOID:9007996 End Stage Liver Disease ISO RGD:737564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15025246 11888425 PHYKPL 5-phosphohydroxy-L-lysine phospho-lyase gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1602671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11888425 PHYKPL 5-phosphohydroxy-L-lysine phospho-lyase gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1602671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11888425 PHYKPL 5-phosphohydroxy-L-lysine phospho-lyase gene DOID:0112103 Sotos syndrome 1 ISO RGD:1602671 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11888425 PHYKPL 5-phosphohydroxy-L-lysine phospho-lyase gene DOID:630 genetic disease ISO RGD:1602671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888425 PHYKPL 5-phosphohydroxy-L-lysine phospho-lyase gene DOID:9003537 Phosphohydroxylysinuria ISO RGD:1602671 D RGD:7240710 20180130 OMIM 11888425 PHYKPL 5-phosphohydroxy-L-lysine phospho-lyase gene DOID:9003537 Phosphohydroxylysinuria ISO RGD:1602671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phosphohydroxylysinuria PMID:23242558 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:0050753 cerebellar ataxia ISO RGD:737272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:0050851 glomerulosclerosis ISO RGD:11305 D RGD:9068941 20200609 RGD PMID:19918242|REF_RGD_ID:12879501 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:0060074 ductal carcinoma in situ ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20526721 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:0060326 myelomeningocele ISO RGD:737272 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs710218, rs2229682 (human) PMID:23427181|REF_RGD_ID:12879498 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:0060326 myelomeningocele ISO RGD:737272 D RGD:9068941 20200609 RGD DNA:deletion:intron:rs35565219 (human) PMID:21135204|REF_RGD_ID:11070819 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:737272 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure PMID:25741868 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:0090044 dystonia 9 ISO RGD:737272 D RGD:7240710 20180130 OMIM 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:0090044 dystonia 9 ISO RGD:737272 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY | ClinVar Annotator: match by term: Dystonia 9 PMID:10980529|PMID:11076005|PMID:11477212|PMID:12325075|PMID:15622525|PMID:16217704|PMID:16949238|PMID:17052934|PMID:17576681|PMID:17718830|PMID:18414213|PMID:18451999|PMID:18606970|PMID:19630075|PMID:19798636|PMID:20129935|PMID:20417043|PMID:21069159|PMID:21135204|PMID:21546317|PMID:21555602|PMID:21832227|PMID:21865127|PMID:22622956|PMID:22704013|PMID:22976442|PMID:23280796|PMID:23340081|PMID:23448551|PMID:25108116|PMID:25326635|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25914049|PMID:25982116|PMID:26193382|PMID:26216499|PMID:26467025|PMID:26537434|PMID:26598494|PMID:26615598|PMID:26982753|PMID:27351150|PMID:28018440|PMID:28116237|PMID:28492532|PMID:28961260|PMID:29961769|PMID:31196579|PMID:31737037|PMID:8808284|PMID:9536098 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:0090045 childhood onset GLUT1 deficiency syndrome 2 ISO RGD:737272 D RGD:7240710 20180130 OMIM 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:0090045 childhood onset GLUT1 deficiency syndrome 2 ISO RGD:737272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Childhood onset GLUT1 deficiency syndrome 2 | ClinVar Annotator: match by term: GLUT1 deficiency syndrome 2 | ClinVar Annotator: match by term: Paroxysmal exercise-induced dystonia PMID:10227690|PMID:10980529|PMID:11076005|PMID:11477212|PMID:11603379|PMID:12325075|PMID:14605501|PMID:15622525|PMID:16217704|PMID:16949238|PMID:17052934|PMID:17576681|PMID:17718830|PMID:18403583|PMID:18414213|PMID:18451999|PMID:18606970|PMID:19630075|PMID:19798636|PMID:19901175|PMID:19996082|PMID:20129935|PMID:20301603|PMID:20417043|PMID:20621801|PMID:21069159|PMID:21135204|PMID:21530357|PMID:21546317|PMID:21555602|PMID:21832227|PMID:23106342|PMID:23280796|PMID:23340081|PMID:2344855|PMID:23448551|PMID:24847886|PMID:24892788|PMID:25022942|PMID:25108116|PMID:25167861|PMID:25326635|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25982116|PMID:26193382|PMID:26216499|PMID:26467025|PMID:26537434|PMID:26598494|PMID:26615598|PMID:27351150|PMID:28116237|PMID:28492532|PMID:28961260|PMID:28971506|PMID:29530121|PMID:30271476|PMID:30588498|PMID:31302675|PMID:31605543|PMID:31737037|PMID:34305802|PMID:9462754|PMID:9536098 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:737272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:0111313 idiopathic generalized epilepsy 12 ISO RGD:737272 D RGD:7240710 20230505 OMIM 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:0111313 idiopathic generalized epilepsy 12 ISO RGD:737272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 12 PMID:10980529|PMID:11477212|PMID:15622525|PMID:16217704|PMID:16949238|PMID:17052934|PMID:17576681|PMID:19630075|PMID:19798636|PMID:20129935|PMID:20417043|PMID:21069159|PMID:21135204|PMID:21555602|PMID:21832227|PMID:22282645|PMID:23280796|PMID:23340081|PMID:23448551|PMID:25108116|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25982116|PMID:26193382|PMID:26467025|PMID:26537434|PMID:26598494|PMID:28116237|PMID:28492532|PMID:28556183|PMID:28717674|PMID:28961260|PMID:31737037|PMID:9536098 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:10487 Hirschsprung's disease ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:10975929|REF_RGD_ID:12879497 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:1059 intellectual disability ISO RGD:737272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18606970|PMID:19630075|PMID:20301603|PMID:25167861|PMID:25564316|PMID:25741868|PMID:26598494|PMID:28492532|PMID:32581362 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:1059 intellectual disability ISO RGD:737272 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:10980529|PMID:18606970|PMID:19630075|PMID:20129935|PMID:20301603|PMID:25167861|PMID:25326635|PMID:25564316|PMID:25741868|PMID:26216499|PMID:26598494|PMID:28492532|PMID:32581362 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:1059 intellectual disability ISO RGD:737272 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency PMID:10980529|PMID:16385454|PMID:18606970|PMID:19630075|PMID:20301500|PMID:20301603|PMID:25167861|PMID:25326635|PMID:25741868|PMID:28492532|PMID:32581362 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:1059 intellectual disability ISO RGD:737272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency PMID:10980529|PMID:18606970|PMID:19630075|PMID:20129935|PMID:20301603|PMID:21832227|PMID:25167861|PMID:25326635|PMID:25564316|PMID:25741868|PMID:26193382|PMID:26216499|PMID:26598494|PMID:28492532|PMID:32581362 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:10591 pre-eclampsia ISO RGD:737272 D RGD:9068941 20221103 RGD mRNA:decreased expression:chorionic villus (human) PMID:22840297|REF_RGD_ID:155631283 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:10652 Alzheimer's disease ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:8179300|REF_RGD_ID:2313620 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:10763 hypertension ISO RGD:3704 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus PMID:12771048|REF_RGD_ID:12879474 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:10907 microcephaly ISO RGD:737272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:10980529|PMID:20129935|PMID:21832227|PMID:25326635|PMID:25741868|PMID:26193382|PMID:26216499|PMID:28492532|PMID:32581362 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:1459 hypothyroidism ISO RGD:3704 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex PMID:16581179|REF_RGD_ID:12879481 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:1790 malignant mesothelioma ISO RGD:737272 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:1825 childhood absence epilepsy onset ISO RGD:737272 D RGD:9068941 20200609 RGD DNA:deletion, missense mutations, SNP:multiple PMID:26537434|REF_RGD_ID:11058811 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:1826 epilepsy ISO RGD:737272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:10980529|PMID:18403583|PMID:19996082|PMID:20129935|PMID:21832227|PMID:23106342|PMID:2344855|PMID:23448551|PMID:24847886|PMID:25326635|PMID:25741868|PMID:26193382|PMID:26216499|PMID:28492532 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:2154 nephroblastoma severity ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:22483234|REF_RGD_ID:12879482 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:255 hemangioma ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:10665907|REF_RGD_ID:12879499 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:737272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:29358611 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3704 D RGD:9068941 20200609 RGD PMID:9419067|REF_RGD_ID:12879855 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:4450 renal cell carcinoma ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7921415 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:543 dystonia ISO RGD:737272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder | ClinVar Annotator: match by term: Paroxysmal dystonia PMID:25741868|PMID:28492532 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:630 genetic disease ISO RGD:737272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10980529|PMID:11477212|PMID:16217704|PMID:16949238|PMID:17052934|PMID:18414213|PMID:19630075|PMID:19798636|PMID:20129935|PMID:20417043|PMID:20830593|PMID:21069159|PMID:21135204|PMID:21555602|PMID:21649651|PMID:21832227|PMID:21865127|PMID:22011817|PMID:22190371|PMID:22704013|PMID:22976442|PMID:23106342|PMID:23280796|PMID:23340081|PMID:23448551|PMID:24847886|PMID:25326635|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25914049|PMID:25982116|PMID:26193382|PMID:26216499|PMID:26467025|PMID:26537434|PMID:26598494|PMID:26982753|PMID:27078104|PMID:27250207|PMID:28018440|PMID:28102150|PMID:28492532|PMID:30588498|PMID:31196579|PMID:31737037|PMID:9462754 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:6364 migraine ISO RGD:737272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Migraine PMID:25741868|PMID:28492532 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:655 inherited metabolic disorder ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23452774 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8364915 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:83 cataract ISO RGD:70495 D RGD:9068941 20200609 RGD PMID:11222509|REF_RGD_ID:12801446 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:8398 osteoarthritis ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18973239 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:863 nervous system disease ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23452774 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:9001834 Peritoneal Neoplasms ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:9002035 Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly ISO RGD:737272 D RGD:7240710 20180130 OMIM 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:9002035 Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly ISO RGD:737272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS | ClinVar Annotator: match by term: Stomatin-deficient cryohydrocytosis with neurologic defects PMID:10980529|PMID:11477212|PMID:12325075|PMID:15180870|PMID:15622525|PMID:16217704|PMID:16949238|PMID:17052934|PMID:17576681|PMID:17718830|PMID:18414213|PMID:18606970|PMID:19630075|PMID:19798636|PMID:20129935|PMID:20417043|PMID:21069159|PMID:21135204|PMID:21546317|PMID:21555602|PMID:21791420|PMID:21832227|PMID:23280796|PMID:23340081|PMID:23448551|PMID:25108116|PMID:25326635|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25982116|PMID:26193382|PMID:26216499|PMID:26467025|PMID:26537434|PMID:26598494|PMID:28116237|PMID:28492532|PMID:28961260|PMID:31737037|PMID:9536098 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:15745834|REF_RGD_ID:2312305 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP:exon:g.20882C>T (human) PMID:26337659|REF_RGD_ID:12879466 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:3704 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22707888|REF_RGD_ID:12879861 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3704 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:9886959|REF_RGD_ID:12879480 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3704 D RGD:9068941 20200609 RGD protein:increased expression:placenta PMID:11738800|REF_RGD_ID:730192 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20138251 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11953883 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:9004009 Reperfusion Injury ISO RGD:3704 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:19781384|REF_RGD_ID:2313601 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:9004866 Ataxia ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11603379 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3704 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brain PMID:17935675|REF_RGD_ID:2313617 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:3704 D RGD:9068941 20200609 RGD PMID:8345816|REF_RGD_ID:12879858 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:9007188 Liver Neoplasms ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26943884 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11953883 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:9007802 GLUT1 Deficiency Syndrome ISO RGD:737272 D RGD:7240710 20180130 OMIM 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:9007802 GLUT1 Deficiency Syndrome ISO RGD:737272 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Encephalopathy due to GLUT1 deficiency | ClinVar Annotator: match by term: GLUT1 deficiency syndrome | ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1 | ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive | ClinVar Annotator: match by term: Glucose transporter protein syndrome PMID:10980529|PMID:11076005|PMID:11102982|PMID:11136715|PMID:11389907|PMID:11477212|PMID:11603379|PMID:12325075|PMID:15622525|PMID:16172126|PMID:16199547|PMID:16217704|PMID:16949238|PMID:17052934|PMID:17576681|PMID:17718830|PMID:18387950|PMID:18403583|PMID:18414213|PMID:18451999|PMID:18577546|PMID:18606970|PMID:18614966|PMID:19237265|PMID:19630075|PMID:19798636|PMID:19996082|PMID:20129935|PMID:20221955|PMID:20301603|PMID:20417043|PMID:20574033|PMID:20621801|PMID:20630673|PMID:20687207|PMID:20830593|PMID:21069159|PMID:21135204|PMID:21204808|PMID:21530357|PMID:21546317|PMID:21555602|PMID:21649651|PMID:21832227|PMID:21865127|PMID:21937992|PMID:22011817|PMID:22282645|PMID:22622956|PMID:22704013|PMID:22814174|PMID:22976442|PMID:23020937|PMID:23106342|PMID:23280796|PMID:23306390|PMID:23340081|PMID:2344855|PMID:23448551|PMID:24080273|PMID:24215330|PMID:24847886|PMID:24892788|PMID:25022942|PMID:25099510|PMID:25108116|PMID:25167861|PMID:25326635|PMID:25381171|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25914049|PMID:25982116|PMID:26193382|PMID:26216499|PMID:26267703|PMID:26467025|PMID:26537434|PMID:26598494|PMID:26615598|PMID:26982753|PMID:27250207|PMID:27351150|PMID:27927575|PMID:28018440|PMID:28102150|PMID:28116237|PMID:28135719|PMID:28378819|PMID:28492532|PMID:28554332|PMID:28556183|PMID:28717674|PMID:28961260|PMID:28971506|PMID:29303961|PMID:29356177|PMID:29530121|PMID:29655203|PMID:29778030|PMID:29930392|PMID:29961769|PMID:30076047|PMID:30197081|PMID:30198221|PMID:30271476|PMID:30588498|PMID:30895386|PMID:31196579|PMID:31273778|PMID:31302675|PMID:31487502|PMID:31737037|PMID:32802945|PMID:33015236|PMID:33258288|PMID:33860439|PMID:34305802|PMID:8808284|PMID:9335548|PMID:9462754|PMID:9536098 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3704 D RGD:9068941 20200609 RGD PMID:10336852|REF_RGD_ID:12879857 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10980529|PMID:11603379|PMID:9462754 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:9008138 Ductal Carcinoma ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20526721 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:9008582 Developmental Disease ISO RGD:737272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:19630075|PMID:25564316|PMID:25741868|PMID:26598494|PMID:28492532 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:17554865|REF_RGD_ID:12879502 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20197467 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:9351 diabetes mellitus ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:10022440|REF_RGD_ID:12879500 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9589670 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:18613291|REF_RGD_ID:2312306 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:7516306|PMID:9789717|REF_RGD_ID:2312289|REF_RGD_ID:2312290 11888443 SLC2A1 solute carrier family 2 member 1 gene DOID:9970 obesity treatment ISO RGD:737272 D RGD:9068941 20200609 RGD associated with Polycystic Ovary Syndrome PMID:24842895|REF_RGD_ID:12879503 11888466 SH3BGRL SH3 domain binding glutamate rich protein like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11888466 SH3BGRL SH3 domain binding glutamate rich protein like gene DOID:12849 autistic disorder ISO RGD:1352415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11888479 XG Xg glycoprotein (Xg blood group) gene DOID:12849 autistic disorder ISO RGD:1349793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11888479 XG Xg glycoprotein (Xg blood group) gene DOID:630 genetic disease ISO RGD:1349793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888479 XG Xg glycoprotein (Xg blood group) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11888495 IRGM immunity related GTPase M gene DOID:0050589 inflammatory bowel disease ISO RGD:1601797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192919 11888495 IRGM immunity related GTPase M gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601797 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11888495 IRGM immunity related GTPase M gene DOID:0110890 inflammatory bowel disease 19 ISO RGD:1601797 D RGD:7240710 20180130 OMIM 11888495 IRGM immunity related GTPase M gene DOID:0110890 inflammatory bowel disease 19 ISO RGD:1601797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 19 PMID:17554261|PMID:18985712|PMID:19174780|PMID:21278745|PMID:33116287 11888495 IRGM immunity related GTPase M gene DOID:399 tuberculosis ISO RGD:1601797 D RGD:7240710 20230505 OMIM 11888495 IRGM immunity related GTPase M gene DOID:630 genetic disease ISO RGD:1601797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888495 IRGM immunity related GTPase M gene DOID:8577 ulcerative colitis ISO RGD:1601797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 11888495 IRGM immunity related GTPase M gene DOID:8778 Crohn's disease ISO RGD:1601797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17554261|PMID:18438406|PMID:19165925|PMID:21278745 11888495 IRGM immunity related GTPase M gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601797 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11888510 SLC25A51 solute carrier family 25 member 51 gene DOID:630 genetic disease ISO RGD:1313070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888526 DHCR24 24-dehydrocholesterol reductase gene DOID:0060041 autism spectrum disorder ISO RGD:1315197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24781735 11888526 DHCR24 24-dehydrocholesterol reductase gene DOID:0080600 COVID-19 ISO RGD:1315197 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11888526 DHCR24 24-dehydrocholesterol reductase gene DOID:10652 Alzheimer's disease ISO RGD:1315197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23042211 11888526 DHCR24 24-dehydrocholesterol reductase gene DOID:11100 Q fever ISO RGD:1315197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16469060 11888526 DHCR24 24-dehydrocholesterol reductase gene DOID:3146 lipid metabolism disorder ISO RGD:1315197 D RGD:9068941 20200609 RGD desmosterolosis, OMIM:602398, Y471S, N294T, K306N PMID:11519011|REF_RGD_ID:1600897 11888526 DHCR24 24-dehydrocholesterol reductase gene DOID:5419 schizophrenia ISO RGD:1315197 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11888526 DHCR24 24-dehydrocholesterol reductase gene DOID:630 genetic disease ISO RGD:1315197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654 11888526 DHCR24 24-dehydrocholesterol reductase gene DOID:9004193 Desmosterolosis ISO RGD:1315197 D RGD:7240710 20180130 OMIM 11888526 DHCR24 24-dehydrocholesterol reductase gene DOID:9004193 Desmosterolosis ISO RGD:1315197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Desmosterolosis PMID:11519011|PMID:21559050|PMID:21671375|PMID:21902244|PMID:25326635|PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654 11888526 DHCR24 24-dehydrocholesterol reductase gene DOID:9008386 Hydrops Fetalis ISO RGD:1315197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868 11888539 WAPL WAPL cohesin release factor gene DOID:630 genetic disease ISO RGD:1319037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888572 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0050777 Joubert syndrome ISO RGD:1606513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:10488899|PMID:20301500|PMID:21679365|PMID:22236771|PMID:22425360|PMID:24033266|PMID:24178751|PMID:25407461|PMID:25741868|PMID:25846457|PMID:25877302|PMID:26092869|PMID:28492532|PMID:29605658 11888572 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0060376 Joubert syndrome with orofaciodigital defect ISO RGD:1606513 D RGD:7240710 20180130 OMIM 11888572 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0060376 Joubert syndrome with orofaciodigital defect ISO RGD:1606513 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: OFDS VI | ClinVar Annotator: match by term: Orofaciodigital syndrome VI | ClinVar Annotator: match by term: Varadi-Papp syndrome PMID:16199547|PMID:17576681|PMID:18414213|PMID:20301500|PMID:22425360|PMID:22693042|PMID:23523602|PMID:24091540|PMID:24178751|PMID:25407461|PMID:25533962|PMID:25741868|PMID:25846457|PMID:25920555|PMID:26092869|PMID:27081551|PMID:27158779|PMID:28125082|PMID:28289185|PMID:28431631|PMID:28454995|PMID:28492532|PMID:28771248|PMID:28976722|PMID:29321670|PMID:29605658|PMID:30408610|PMID:30919572|PMID:31158925|PMID:31216405|PMID:32037395|PMID:32233090|PMID:33176815|PMID:34008892|PMID:9536098 11888572 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1606513 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:28492532 11888572 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1606513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:22425360|PMID:24033266|PMID:24178751|PMID:25741868|PMID:26092869|PMID:28492532 11888572 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1606513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:22425360|PMID:24178751|PMID:25741868|PMID:26092869|PMID:28492532 11888572 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0110986 Joubert Syndrome 17 ISO RGD:1606513 D RGD:7240710 20180130 OMIM 11888572 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0110986 Joubert Syndrome 17 ISO RGD:1606513 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Joubert syndrome 17 PMID:10488899|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20301500|PMID:22425360|PMID:22693042|PMID:23523602|PMID:24091540|PMID:24178751|PMID:25407461|PMID:25533962|PMID:25558065|PMID:25741868|PMID:25877302|PMID:25920555|PMID:26092869|PMID:26096313|PMID:26477546|PMID:27081551|PMID:27158779|PMID:27166760|PMID:27434533|PMID:28087721|PMID:28125082|PMID:28289185|PMID:28431631|PMID:28454995|PMID:28492532|PMID:28771248|PMID:28976722|PMID:29321670|PMID:29605658|PMID:30408610|PMID:30919572|PMID:31158925|PMID:31216405|PMID:31980526|PMID:32037395|PMID:32233090|PMID:33176815|PMID:34008892|PMID:9536098 11888572 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0111112 nephronophthisis 1 ISO RGD:1606513 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:24178751|PMID:25741868|PMID:26092869|PMID:28125082|PMID:28492532|PMID:34008892 11888572 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:1606513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 PMID:22693042|PMID:24178751|PMID:25741868|PMID:26092869|PMID:28492532|PMID:33176815 11888572 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:12712 nephronophthisis ISO RGD:1606513 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:22425360|PMID:24178751|PMID:25741868|PMID:26092869|PMID:28087721|PMID:28125082|PMID:28431631|PMID:28492532|PMID:34008892 11888572 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:3070 high grade glioma ISO RGD:1606513 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:25741868|PMID:28492532 11888572 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:630 genetic disease ISO RGD:1606513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21679365|PMID:22236771|PMID:22425360|PMID:23012439|PMID:24178751|PMID:25407461|PMID:25846457|PMID:28492532 11888572 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11888572 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:9004898 Jaundice ISO RGD:1606513 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Jaundice PMID:24178751|PMID:25407461|PMID:25741868|PMID:26092869|PMID:28125082|PMID:28492532|PMID:34008892 11888572 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1606513 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24178751|PMID:25407461|PMID:25558065|PMID:25741868|PMID:26092869|PMID:28125082|PMID:28492532|PMID:34008892 11888654 LOC100976634 vacuolar fusion protein CCZ1 homolog B gene DOID:630 genetic disease ISO RGD:1351383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888671 ONECUT1 one cut homeobox 1 gene DOID:0050770 polycystic liver disease ISO RGD:732947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 11888671 ONECUT1 one cut homeobox 1 gene DOID:2717 Bloom syndrome ISO RGD:732947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11888671 ONECUT1 one cut homeobox 1 gene DOID:607 paraplegia ISO RGD:732947 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 11888671 ONECUT1 one cut homeobox 1 gene DOID:630 genetic disease ISO RGD:732947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888671 ONECUT1 one cut homeobox 1 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:732947 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 11888671 ONECUT1 one cut homeobox 1 gene DOID:9256 colorectal cancer ISO RGD:732947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 11888692 LOC100995620 keratin, type II cytoskeletal 75 gene DOID:630 genetic disease ISO RGD:1603409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888692 LOC100995620 keratin, type II cytoskeletal 75 gene DOID:9006643 Pseudofolliculitis Barbae ISO RGD:1603409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudofolliculitis barbae PMID:15086549 11888692 LOC100995620 keratin, type II cytoskeletal 75 gene DOID:9006643 Pseudofolliculitis Barbae susceptibility ISO RGD:1603409 D RGD:7240710 20200610 OMIM 11888730 PRR27 proline rich 27 gene DOID:630 genetic disease ISO RGD:1604909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888730 PRR27 proline rich 27 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1604909 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11888739 PRRC2B proline rich coiled-coil 2B gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1346299 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11888739 PRRC2B proline rich coiled-coil 2B gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1346299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 11888739 PRRC2B proline rich coiled-coil 2B gene DOID:630 genetic disease ISO RGD:1346299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888795 KLF13 KLF transcription factor 13 gene DOID:0060041 autism spectrum disorder ISO RGD:1344641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:19050728|PMID:19289393|PMID:21844811|PMID:23044707|PMID:25255310|PMID:25741868|PMID:27569545 11888795 KLF13 KLF transcription factor 13 gene DOID:0060394 chromosome 15q13.3 microdeletion syndrome ISO RGD:1344641 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome PMID:31690835 11888795 KLF13 KLF transcription factor 13 gene DOID:12849 autistic disorder ISO RGD:1344641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11888795 KLF13 KLF transcription factor 13 gene DOID:1682 congenital heart disease ISO RGD:1344641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital heart disease 11888795 KLF13 KLF transcription factor 13 gene DOID:289 endometriosis ISO RGD:1344641 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 11888795 KLF13 KLF transcription factor 13 gene DOID:5419 schizophrenia ISO RGD:1344641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11888795 KLF13 KLF transcription factor 13 gene DOID:5844 myocardial infarction ISO RGD:1344641 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:29122578 11888795 KLF13 KLF transcription factor 13 gene DOID:630 genetic disease ISO RGD:1344641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11888795 KLF13 KLF transcription factor 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11888795 KLF13 KLF transcription factor 13 gene DOID:9256 colorectal cancer ISO RGD:1344641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 11888799 GARIN4 golgi associated RAB2 interactor family member 4 gene DOID:13501 Moebius syndrome ISO RGD:1606700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 11888799 GARIN4 golgi associated RAB2 interactor family member 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1606700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11888799 GARIN4 golgi associated RAB2 interactor family member 4 gene DOID:630 genetic disease ISO RGD:1606700 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888799 GARIN4 golgi associated RAB2 interactor family member 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11888816 PXN paxillin gene DOID:3908 lung non-small cell carcinoma ISO RGD:1313984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21159652 11888816 PXN paxillin gene DOID:630 genetic disease ISO RGD:1313984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888816 PXN paxillin gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18492274 11888816 PXN paxillin gene DOID:9004118 Experimental Melanoma ISO RGD:1313984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18492274 11888816 PXN paxillin gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1313984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100775 11888849 RFC1 replication factor C subunit 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1353491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926972 11888849 RFC1 replication factor C subunit 1 gene DOID:2366 West Nile fever susceptibility ISO RGD:1353491 D RGD:9068941 20210212 RGD DNA:silent mutation:CDS:p.P847P (rs2066786) (human) PMID:21881118|REF_RGD_ID:41410434 11888849 RFC1 replication factor C subunit 1 gene DOID:2477 motor peripheral neuropathy ISO RGD:1353491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926972 11888849 RFC1 replication factor C subunit 1 gene DOID:3347 osteosarcoma ISO RGD:1353491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19159907 11888849 RFC1 replication factor C subunit 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1353491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11888849 RFC1 replication factor C subunit 1 gene DOID:630 genetic disease ISO RGD:1353491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888849 RFC1 replication factor C subunit 1 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1353491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 11888849 RFC1 replication factor C subunit 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1353491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18926688 11888849 RFC1 replication factor C subunit 1 gene DOID:9006473 Bilateral Vestibulopathy ISO RGD:1353491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926972 11888849 RFC1 replication factor C subunit 1 gene DOID:9009139 Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome ISO RGD:1353491 D RGD:7240710 20190515 OMIM 11888849 RFC1 replication factor C subunit 1 gene DOID:9009139 Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome ISO RGD:1353491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome PMID:25741868 11888883 NFE2L3 NFE2 like bZIP transcription factor 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11888883 NFE2L3 NFE2 like bZIP transcription factor 3 gene DOID:630 genetic disease ISO RGD:1317092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888890 CA5B carbonic anhydrase 5B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11888890 CA5B carbonic anhydrase 5B gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1343079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 11888890 CA5B carbonic anhydrase 5B gene DOID:12849 autistic disorder ISO RGD:1343079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11888890 CA5B carbonic anhydrase 5B gene DOID:13636 Fanconi anemia ISO RGD:1343079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 11888890 CA5B carbonic anhydrase 5B gene DOID:630 genetic disease ISO RGD:1343079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888890 CA5B carbonic anhydrase 5B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11888897 LOC100974481 olfactory receptor 5T3 gene DOID:1059 intellectual disability ISO RGD:1351333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11888897 LOC100974481 olfactory receptor 5T3 gene DOID:630 genetic disease ISO RGD:1351333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888899 CTPS1 CTP synthase 1 gene DOID:0050625 biliary tract benign neoplasm ISO RGD:1322315 D RGD:9068941 20200609 RGD mRNA:increased expression:biliary tract neoplasm (human) PMID:12819026|REF_RGD_ID:2317903 11888899 CTPS1 CTP synthase 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1322315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11888899 CTPS1 CTP synthase 1 gene DOID:0111938 immunodeficiency 24 ISO RGD:1322315 D RGD:7240710 20180130 OMIM 11888899 CTPS1 CTP synthase 1 gene DOID:0111938 immunodeficiency 24 ISO RGD:1322315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency PMID:16199547|PMID:17576681|PMID:24033266|PMID:24870241|PMID:25741868|PMID:27638562|PMID:28492532|PMID:30899265|PMID:32161190|PMID:9536098 11888899 CTPS1 CTP synthase 1 gene DOID:630 genetic disease ISO RGD:1322315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11888899 CTPS1 CTP synthase 1 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:1322315 D RGD:9068941 20200609 RGD mRNA:increased expression:nasopharynx (human) PMID:19302751|REF_RGD_ID:5132859 11888925 PPFIA2 PTPRF interacting protein alpha 2 gene DOID:630 genetic disease ISO RGD:1312803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11888985 POMP proteasome maturation protein gene DOID:0080600 COVID-19 ISO RGD:1314101 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11888985 POMP proteasome maturation protein gene DOID:13641 exfoliation syndrome ISO RGD:1314101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28553957 11888985 POMP proteasome maturation protein gene DOID:630 genetic disease ISO RGD:1314101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11888985 POMP proteasome maturation protein gene DOID:9007082 Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma ISO RGD:1314101 D RGD:7240710 20180130 OMIM 11888985 POMP proteasome maturation protein gene DOID:9007082 Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma ISO RGD:1314101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Keratosis linearis with ichthyosis congenita and sclerosing keratoderma PMID:20226437|PMID:22235297|PMID:25741868|PMID:27503413|PMID:28492532 11888985 POMP proteasome maturation protein gene DOID:9009201 Proteasome-Associated Autoinflammatory Syndrome 2 ISO RGD:1314101 D RGD:7240710 20190315 OMIM 11888985 POMP proteasome maturation protein gene DOID:9009201 Proteasome-Associated Autoinflammatory Syndrome 2 ISO RGD:1314101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 2 PMID:12022327|PMID:25741868|PMID:26524591|PMID:28492532|PMID:29805043 11889013 ABCC11 ATP binding cassette subfamily C member 11 gene DOID:0111041 glycogen storage disease IXb ISO RGD:1350146 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 11889013 ABCC11 ATP binding cassette subfamily C member 11 gene DOID:630 genetic disease ISO RGD:1350146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11889013 ABCC11 ATP binding cassette subfamily C member 11 gene DOID:9000918 Disease Progression ISO RGD:1350146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 11889054 RGS8 regulator of G protein signaling 8 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:737105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 11889054 RGS8 regulator of G protein signaling 8 gene DOID:1540 parathyroid carcinoma ISO RGD:737105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11889054 RGS8 regulator of G protein signaling 8 gene DOID:630 genetic disease ISO RGD:737105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11889054 RGS8 regulator of G protein signaling 8 gene DOID:9007090 Experimental Seizures ISO RGD:3571 D RGD:9068941 20200609 RGD PMID:12358788|REF_RGD_ID:13524540 11889054 RGS8 regulator of G protein signaling 8 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:737105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11889054 RGS8 regulator of G protein signaling 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11889070 RAD52 RAD52 homolog, DNA repair protein gene DOID:0050742 nicotine dependence susceptibility ISO RGD:1312725 D RGD:9068941 20220303 RGD DNA:SNP:3'utr: (rs7963551) (human) PMID:26629180|REF_RGD_ID:151660337 11889070 RAD52 RAD52 homolog, DNA repair protein gene DOID:0050904 salivary gland carcinoma sexual_dimorphism ISO RGD:1312725 D RGD:9068941 20220303 RGD DNA:SNP:intron: (rs3748522) (human) PMID:26035306|REF_RGD_ID:151361290 11889070 RAD52 RAD52 homolog, DNA repair protein gene DOID:10155 intestinal cancer disease_progression ISO RGD:10166 D RGD:9068941 20220225 RGD PMID:27984746|REF_RGD_ID:151361160 11889070 RAD52 RAD52 homolog, DNA repair protein gene DOID:1324 lung cancer susceptibility ISO RGD:1312725 D RGD:9068941 20220304 RGD DNA:SNP,haplotype: PMID:18449888|REF_RGD_ID:151660351 11889070 RAD52 RAD52 homolog, DNA repair protein gene DOID:1324 lung cancer susceptibility ISO RGD:1312725 D RGD:9068941 20220310 RGD DNA:SNP: (rs4766394) (human) PMID:22382497|REF_RGD_ID:151660503 11889070 RAD52 RAD52 homolog, DNA repair protein gene DOID:1749 squamous cell carcinoma ISO RGD:1312725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26013599 11889070 RAD52 RAD52 homolog, DNA repair protein gene DOID:219 colon cancer susceptibility ISO RGD:1312725 D RGD:9068941 20220303 RGD DNA:SNPs:3'utr: (rs1051669, rs11571475) (human) PMID:26735576|REF_RGD_ID:151361212 11889070 RAD52 RAD52 homolog, DNA repair protein gene DOID:3907 lung squamous cell carcinoma ameliorates ISO RGD:1312726 D RGD:9068941 20220303 RGD PMID:28415565|REF_RGD_ID:151660334 11889070 RAD52 RAD52 homolog, DNA repair protein gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1312725 D RGD:9068941 20220303 RGD DNA:SNP: (rs6489769) (human) PMID:22585858|REF_RGD_ID:151660345 11889070 RAD52 RAD52 homolog, DNA repair protein gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1312725 D RGD:9068941 20220310 RGD DNA:SNPs,haplotype:multiple PMID:32401173|REF_RGD_ID:151660355 11889070 RAD52 RAD52 homolog, DNA repair protein gene DOID:3948 adrenocortical carcinoma ISO RGD:1312725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 11889070 RAD52 RAD52 homolog, DNA repair protein gene DOID:4531 mucoepidermoid carcinoma susceptibility ISO RGD:1312725 D RGD:9068941 20220303 RGD DNA:SNP:intron: (rs3748522) (human) PMID:26035306|REF_RGD_ID:151361290 11889070 RAD52 RAD52 homolog, DNA repair protein gene DOID:5409 lung small cell carcinoma susceptibility ISO RGD:1312725 D RGD:9068941 20220303 RGD DNA:SNP:3'utr: (rs7963551) (human) PMID:26629180|REF_RGD_ID:151660337 11889070 RAD52 RAD52 homolog, DNA repair protein gene DOID:5409 lung small cell carcinoma treatment ISO RGD:1312725 D RGD:9068941 20220303 RGD DNA:SNP: (rs10774474)(human) PMID:27531263|REF_RGD_ID:151660339 11889070 RAD52 RAD52 homolog, DNA repair protein gene DOID:630 genetic disease ISO RGD:1312725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11889070 RAD52 RAD52 homolog, DNA repair protein gene DOID:684 hepatocellular carcinoma onset ISO RGD:1312725 D RGD:9068941 20220303 RGD mRNA,protein:increased expression:liver (human) PMID:31719794|REF_RGD_ID:151361207 11889070 RAD52 RAD52 homolog, DNA repair protein gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1312725 D RGD:9068941 20220303 RGD associated with hepatitis B;DNA:SNP:3'utr: (rs7963551) (human) PMID:24729511|REF_RGD_ID:151361199 11889070 RAD52 RAD52 homolog, DNA repair protein gene DOID:9000965 Neoplasm Metastasis susceptibility ISO RGD:1312725 D RGD:9068941 20220225 RGD associated with colorectal cancer; DNA:SNP:3'utr: (rs7963551) (human) PMID:29245274|REF_RGD_ID:151361161 11889070 RAD52 RAD52 homolog, DNA repair protein gene DOID:9005172 Lung Neoplasms ISO RGD:1312725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26013599 11889070 RAD52 RAD52 homolog, DNA repair protein gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1312725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11889070 RAD52 RAD52 homolog, DNA repair protein gene DOID:9256 colorectal cancer onset ISO RGD:1312725 D RGD:9068941 20220225 RGD DNA:SNP,haplotypes:3'utr: (rs1051669) (human) PMID:29245274|REF_RGD_ID:151361161 11889070 RAD52 RAD52 homolog, DNA repair protein gene DOID:9256 colorectal cancer susceptibility ISO RGD:1312725 D RGD:9068941 20220303 RGD DNA:SNPs:3'utr: (rs7963551, rs11226) (human) PMID:26735576|REF_RGD_ID:151361212 11889070 RAD52 RAD52 homolog, DNA repair protein gene DOID:9261 nasopharynx carcinoma severity ISO RGD:1312725 D RGD:9068941 20220303 RGD protein:increased expression:nasopharynx (human) PMID:25026830|REF_RGD_ID:151361208 11889102 NPL N-acetylneuraminate pyruvate lyase gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1348386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 11889102 NPL N-acetylneuraminate pyruvate lyase gene DOID:13580 cholestasis ISO RGD:1348386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 11889102 NPL N-acetylneuraminate pyruvate lyase gene DOID:1540 parathyroid carcinoma ISO RGD:1348386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11889102 NPL N-acetylneuraminate pyruvate lyase gene DOID:630 genetic disease ISO RGD:1348386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11889102 NPL N-acetylneuraminate pyruvate lyase gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1348386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11889102 NPL N-acetylneuraminate pyruvate lyase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11889141 LOC100980510 keratin-associated protein 4-1 gene DOID:630 genetic disease ISO RGD:1349794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11889160 ANGPT2 angiopoietin 2 gene DOID:0001816 angiosarcoma ISO RGD:730844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 11889160 ANGPT2 angiopoietin 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:730844 D RGD:9068941 20220811 RGD protein:increased expression:oral mucosa (human) PMID:26044849|REF_RGD_ID:153323290 11889160 ANGPT2 angiopoietin 2 gene DOID:0050876 Caroli disease ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:bile duct (rat) PMID:16628643|REF_RGD_ID:2314213 11889160 ANGPT2 angiopoietin 2 gene DOID:0070285 primary autosomal recessive microcephaly 1 ISO RGD:730844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32714618 11889160 ANGPT2 angiopoietin 2 gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:730844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive primary microcephaly PMID:25741868|PMID:28492532 11889160 ANGPT2 angiopoietin 2 gene DOID:0080600 COVID-19 severity ISO RGD:730844 D RGD:9068941 20200626 RGD protein:increased expression:plasma (human) PMID:32458111|REF_RGD_ID:32716385 11889160 ANGPT2 angiopoietin 2 gene DOID:1059 intellectual disability ISO RGD:730844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11889160 ANGPT2 angiopoietin 2 gene DOID:10762 portal hypertension ISO RGD:621861 D RGD:9068941 20200609 RGD PMID:19070926|REF_RGD_ID:2314171 11889160 ANGPT2 angiopoietin 2 gene DOID:10808 gastric ulcer ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:stomach (rat) PMID:12768384|REF_RGD_ID:1601496 11889160 ANGPT2 angiopoietin 2 gene DOID:13025 retinopathy of prematurity ISO RGD:1550503 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (mouse) PMID:17065527|REF_RGD_ID:2314207 11889160 ANGPT2 angiopoietin 2 gene DOID:13025 retinopathy of prematurity ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:retina (rat) PMID:17692314|REF_RGD_ID:2314205 11889160 ANGPT2 angiopoietin 2 gene DOID:13025 retinopathy of prematurity susceptibility ISO RGD:621861 D RGD:9068941 20200609 RGD PMID:17692314|REF_RGD_ID:2314205 11889160 ANGPT2 angiopoietin 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:621861 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:glomerulus (rat) PMID:16628643|REF_RGD_ID:2314213 11889160 ANGPT2 angiopoietin 2 gene DOID:2316 brain ischemia ISO RGD:621861 D RGD:9068941 20200609 RGD PMID:17494864|REF_RGD_ID:2314206 11889160 ANGPT2 angiopoietin 2 gene DOID:2527 nephrosis ISO RGD:621861 D RGD:9068941 20200609 RGD PMID:18929866|REF_RGD_ID:2314177 11889160 ANGPT2 angiopoietin 2 gene DOID:2527 nephrosis ISO RGD:621861 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:18929864|REF_RGD_ID:2314178 11889160 ANGPT2 angiopoietin 2 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:730844 D RGD:9068941 20200609 RGD PMID:15705099|REF_RGD_ID:2293853 11889160 ANGPT2 angiopoietin 2 gene DOID:2870 endometrial adenocarcinoma ISO RGD:730844 D RGD:9068941 20200609 RGD protein:increased expression:endometrium epithelium PMID:17295646|REF_RGD_ID:2293852 11889160 ANGPT2 angiopoietin 2 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:621861 D RGD:9068941 20200609 RGD PMID:16014048|REF_RGD_ID:2314222 11889160 ANGPT2 angiopoietin 2 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus (rat) PMID:18272601|REF_RGD_ID:2314193 11889160 ANGPT2 angiopoietin 2 gene DOID:299 adenocarcinoma ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:cerebrum, blood vessels (rat) PMID:10373119|REF_RGD_ID:2314294 11889160 ANGPT2 angiopoietin 2 gene DOID:3070 high grade glioma ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:brain (rat) PMID:18615861|REF_RGD_ID:2314189 11889160 ANGPT2 angiopoietin 2 gene DOID:3247 rhabdomyosarcoma ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:blood vessel (rat) PMID:17849463|REF_RGD_ID:2314204 11889160 ANGPT2 angiopoietin 2 gene DOID:326 ischemia ISO RGD:621861 D RGD:9068941 20200609 RGD PMID:19672036|REF_RGD_ID:2313934 11889160 ANGPT2 angiopoietin 2 gene DOID:4762 vasculogenic impotence ISO RGD:621861 D RGD:9068941 20200609 RGD associated with Hypercholesterolemia; mRNA, protein:decreased expression:cavernous body of penis (rat) PMID:16750245|REF_RGD_ID:2314210 11889160 ANGPT2 angiopoietin 2 gene DOID:5844 myocardial infarction ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:left ventricular wall, heart septum (rat) PMID:16714360|REF_RGD_ID:1601493 11889160 ANGPT2 angiopoietin 2 gene DOID:630 genetic disease ISO RGD:730844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 11889160 ANGPT2 angiopoietin 2 gene DOID:6432 pulmonary hypertension ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:pulmonary artery (rat) PMID:19712575|REF_RGD_ID:2314185 11889160 ANGPT2 angiopoietin 2 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:bile duct (rat) PMID:16628643|REF_RGD_ID:2314213 11889160 ANGPT2 angiopoietin 2 gene DOID:9000037 Lymphatic Malformation 10 ISO RGD:730844 D RGD:7240710 20210616 OMIM 11889160 ANGPT2 angiopoietin 2 gene DOID:9000037 Lymphatic Malformation 10 ISO RGD:730844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 10 PMID:32908006 11889160 ANGPT2 angiopoietin 2 gene DOID:9000888 Pregnancy in Diabetics ISO RGD:730844 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:plasma PMID:15209761|REF_RGD_ID:2313816 11889160 ANGPT2 angiopoietin 2 gene DOID:9001285 Alcoholic Liver Diseases severity ISO RGD:730844 D RGD:9068941 20200609 RGD PMID:24959006|REF_RGD_ID:15014784 11889160 ANGPT2 angiopoietin 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621861 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:multiple organs (rat) PMID:18978178|REF_RGD_ID:2314174 11889160 ANGPT2 angiopoietin 2 gene DOID:9005605 Arteriovenous Fistula ISO RGD:621861 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:18692629|REF_RGD_ID:2314184 11889160 ANGPT2 angiopoietin 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:15047628|REF_RGD_ID:2313817 11889160 ANGPT2 angiopoietin 2 gene DOID:9005749 Necrosis ISO RGD:621861 D RGD:9068941 20200609 RGD mRNA:increased expression:liver, stellate cell, macrophage (rat) PMID:15135347|REF_RGD_ID:2314239 11889160 ANGPT2 angiopoietin 2 gene DOID:9007096 Stroke ISO RGD:621861 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (rat) PMID:15637314|REF_RGD_ID:1626166 11889160 ANGPT2 angiopoietin 2 gene DOID:9007661 Dwarfism ISO RGD:730844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:26467025|PMID:28492532|PMID:32714618 11889160 ANGPT2 angiopoietin 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:621861 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium (rat) PMID:12737621|REF_RGD_ID:1601505 11889160 ANGPT2 angiopoietin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730844 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15823283|REF_RGD_ID:2313815 11889160 Angpt2 angiopoietin 2 gene DOID:4676 uremia ISO RGD:621861 D RGD:9068941 20200609 RGD mRNA:increased expression:omentum (rat) PMID:18751736|REF_RGD_ID:2314180 11889160 Angpt2 angiopoietin 2 gene DOID:8947 diabetic retinopathy ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:retina (rat) PMID:16520919|REF_RGD_ID:2314216 11889180 CLIP4 CAP-Gly domain containing linker protein family member 4 gene DOID:630 genetic disease ISO RGD:1350068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11889180 CLIP4 CAP-Gly domain containing linker protein family member 4 gene DOID:9009095 Neuroblastoma 3 ISO RGD:1350068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 PMID:28492532 11889200 HNF1B HNF1 homeobox B gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:69136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:12161522|PMID:15930087|PMID:17116179|PMID:17878605|PMID:18249217|PMID:18644064|PMID:21380624|PMID:21775974|PMID:25536396|PMID:25700310|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31498910|PMID:31825128|PMID:32708349|PMID:33532864|PMID:33663443|PMID:33851123 11889200 HNF1B HNF1 homeobox B gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69136 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10868855|PMID:11845238|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16249435|PMID:16971658|PMID:17337496|PMID:18528323|PMID:19228875|PMID:19389850|PMID:19639018|PMID:20378641|PMID:20603712|PMID:21163139|PMID:21380624|PMID:21775974|PMID:22051731|PMID:22432796|PMID:22706971|PMID:24033266|PMID:24254850|PMID:24429398|PMID:24897035|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25705165|PMID:25741868|PMID:26467025|PMID:26489027|PMID:26552609|PMID:26899772|PMID:27234567|PMID:27297286|PMID:28274157|PMID:28492532|PMID:29927023|PMID:30259503|PMID:30481753|PMID:30655312|PMID:30663027|PMID:31198537|PMID:31365591|PMID:31825128|PMID:32266039|PMID:33259036|PMID:33532864 11889200 HNF1B HNF1 homeobox B gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69136 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10868855|PMID:11845238|PMID:12478351|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16133182|PMID:16249435|PMID:16801329|PMID:16971658|PMID:17337496|PMID:18528323|PMID:19228875|PMID:19389850|PMID:19639018|PMID:20378641|PMID:20603712|PMID:20633866|PMID:21163139|PMID:21380624|PMID:21775974|PMID:22051731|PMID:22432796|PMID:22706971|PMID:24033266|PMID:24097065|PMID:24254850|PMID:24429398|PMID:24897035|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25705165|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:26489027|PMID:26552609|PMID:26899772|PMID:27234567|PMID:27297286|PMID:27615128|PMID:27913849|PMID:28166811|PMID:28215227|PMID:28251383|PMID:28274157|PMID:28420700|PMID:28492532|PMID:29207974|PMID:2976441|PMID:29764441|PMID:29927023|PMID:30191644|PMID:30259503|PMID:30481753|PMID:30655312|PMID:30663027|PMID:30666461|PMID:31198537|PMID:31365591|PMID:31825128|PMID:32266039|PMID:33259036|PMID:33434175|PMID:33532864|PMID:9398836 11889200 HNF1B HNF1 homeobox B gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10868855|PMID:11845238|PMID:12148114|PMID:12478351|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16133182|PMID:16249435|PMID:16801329|PMID:16971658|PMID:17337496|PMID:18528323|PMID:19228875|PMID:19389850|PMID:19639018|PMID:20378641|PMID:20603712|PMID:20633866|PMID:21163139|PMID:21380624|PMID:21775974|PMID:22051731|PMID:22432796|PMID:22706971|PMID:24033266|PMID:24097065|PMID:24254850|PMID:24429398|PMID:24897035|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25705165|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:26489027|PMID:26552609|PMID:26899772|PMID:27234567|PMID:27297286|PMID:27615128|PMID:27913849|PMID:28166811|PMID:28215227|PMID:28251383|PMID:28274157|PMID:28420700|PMID:28492532|PMID:29100090|PMID:29207974|PMID:2976441|PMID:29764441|PMID:29927023|PMID:30191644|PMID:30259503|PMID:30481753|PMID:30655312|PMID:30663027|PMID:30666461|PMID:31057226|PMID:31198537|PMID:31365591|PMID:31825128|PMID:32164334|PMID:32266039|PMID:33259036|PMID:33434175|PMID:33532864|PMID:9398836 11889200 HNF1B HNF1 homeobox B gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10868855|PMID:11845238|PMID:12148114|PMID:12478351|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16133182|PMID:16249435|PMID:16801329|PMID:16971658|PMID:17337496|PMID:18528323|PMID:19228875|PMID:19389850|PMID:19639018|PMID:20378641|PMID:20603712|PMID:20633866|PMID:21163139|PMID:21380624|PMID:21775974|PMID:22051731|PMID:22432796|PMID:22706971|PMID:24033266|PMID:24097065|PMID:24254850|PMID:24429398|PMID:24897035|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25705165|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:26489027|PMID:26552609|PMID:26899772|PMID:27234567|PMID:27297286|PMID:27615128|PMID:27913849|PMID:28215227|PMID:28251383|PMID:28274157|PMID:28420700|PMID:28492532|PMID:29100090|PMID:29207974|PMID:2976441|PMID:29764441|PMID:29927023|PMID:30191644|PMID:30259503|PMID:30481753|PMID:30655312|PMID:30663027|PMID:30666461|PMID:31057226|PMID:31198537|PMID:31365591|PMID:31825128|PMID:32164334|PMID:32266039|PMID:33259036|PMID:33434175|PMID:33532864|PMID:9398836 11889200 HNF1B HNF1 homeobox B gene DOID:0050770 polycystic liver disease ISO RGD:69136 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:15930087|PMID:16249435|PMID:18065799|PMID:19639018|PMID:20633866|PMID:21775974|PMID:22114815|PMID:24033266|PMID:24041679|PMID:24097065|PMID:24429398|PMID:24897035|PMID:25536396|PMID:25700310|PMID:25741868|PMID:26467025|PMID:26899772|PMID:28492532|PMID:30259503 11889200 HNF1B HNF1 homeobox B gene DOID:0060041 autism spectrum disorder ISO RGD:69136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 11889200 HNF1B HNF1 homeobox B gene DOID:0060062 familial juvenile hyperuricemic nephropathy ISO RGD:69136 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal dominant tubulointerstitial kidney disease PMID:12161522|PMID:17878605|PMID:25536396|PMID:25700310|PMID:25741868|PMID:26467025|PMID:33532864 11889200 HNF1B HNF1 homeobox B gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:69136 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 11889200 HNF1B HNF1 homeobox B gene DOID:0080205 CAKUT ISO RGD:69136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:15930087|PMID:16249435|PMID:16371430|PMID:17116179|PMID:18249217|PMID:18644064|PMID:20155289|PMID:21380624|PMID:21775974|PMID:23539225|PMID:24387224|PMID:24429398|PMID:24897035|PMID:24961278|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25741868|PMID:26024028|PMID:26059258|PMID:26226118|PMID:26467025|PMID:28492532|PMID:30143558|PMID:31825128|PMID:32708349|PMID:33532864|PMID:33663443 11889200 HNF1B HNF1 homeobox B gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:69136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:12161522|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16249435|PMID:17116179|PMID:17878605|PMID:18249217|PMID:18644064|PMID:19639018|PMID:20378641|PMID:21380624|PMID:21775974|PMID:22051731|PMID:24254850|PMID:24897035|PMID:25441779|PMID:25536396|PMID:25700310|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:27615128|PMID:28215227|PMID:28492532|PMID:29927023|PMID:30481753|PMID:30655312|PMID:31198537|PMID:31498910|PMID:31825128|PMID:32266039|PMID:32708349|PMID:33434175|PMID:33532864|PMID:33663443|PMID:33851123 11889200 HNF1B HNF1 homeobox B gene DOID:0111101 maturity-onset diabetes of the young type 5 ISO RGD:69136 D RGD:7240710 20180130 OMIM 11889200 HNF1B HNF1 homeobox B gene DOID:0111101 maturity-onset diabetes of the young type 5 ISO RGD:69136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Renal cysts and diabetes syndrome PMID:10484768|PMID:10672455|PMID:10720943|PMID:10758154|PMID:10868855|PMID:11085914|PMID:11317673|PMID:11562418|PMID:11845237|PMID:11845238|PMID:11918730|PMID:12148114|PMID:12161522|PMID:12460054|PMID:12478351|PMID:12675839|PMID:14583183|PMID:15001636|PMID:15068978|PMID:15085338|PMID:15168014|PMID:15181075|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16133182|PMID:16199547|PMID:16249435|PMID:16371430|PMID:16801329|PMID:16971658|PMID:17116179|PMID:17267738|PMID:17337496|PMID:17440011|PMID:17878605|PMID:17924661|PMID:18065799|PMID:18249217|PMID:18528323|PMID:18644064|PMID:19228875|PMID:19346182|PMID:19389850|PMID:19639018|PMID:20155289|PMID:20378641|PMID:20543213|PMID:20603712|PMID:20633866|PMID:21163139|PMID:21380624|PMID:21617276|PMID:21775974|PMID:22034641|PMID:22051731|PMID:22060211|PMID:22114815|PMID:22432796|PMID:22641569|PMID:22706971|PMID:23520208|PMID:23539225|PMID:23926411|PMID:23979948|PMID:24033266|PMID:24041679|PMID:24097065|PMID:24254850|PMID:24382792|PMID:24387224|PMID:24429398|PMID:24476040|PMID:24698406|PMID:24897035|PMID:24961278|PMID:25041077|PMID:25265965|PMID:25367728|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25705165|PMID:25741167|PMID:25741868|PMID:25754277|PMID:26024028|PMID:26059258|PMID:26226118|PMID:2624270|PMID:26319241|PMID:26340261|PMID:26417411|PMID:26467025|PMID:26489027|PMID:26489029|PMID:26669242|PMID:26899772|PMID:27229139|PMID:27234567|PMID:27297286|PMID:27615128|PMID:27657687|PMID:27838256|PMID:27913849|PMID:28215227|PMID:28251383|PMID:28420700|PMID:28492532|PMID:28502589|PMID:28593362|PMID:28912863|PMID:29100090|PMID:29207974|PMID:29406598|PMID:29491316|PMID:2976441|PMID:29764441|PMID:29927023|PMID:30143558|PMID:30191644|PMID:30259503|PMID:30481753|PMID:30655312|PMID:30663027|PMID:30666461|PMID:30773290|PMID:31131422|PMID:31198537|PMID:31365591|PMID:31498910|PMID:31604004|PMID:31825128|PMID:32164334|PMID:32266039|PMID:32708349|PMID:33259036|PMID:33305128|PMID:33434175|PMID:33532864|PMID:33574344|PMID:33663443|PMID:33851123|PMID:7151342|PMID:9398836|PMID:9703339 11889200 HNF1B HNF1 homeobox B gene DOID:12849 autistic disorder ISO RGD:69136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11889200 HNF1B HNF1 homeobox B gene DOID:2394 ovarian cancer ISO RGD:69136 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:12161522|PMID:25700310|PMID:25741868 11889200 HNF1B HNF1 homeobox B gene DOID:26 pancreas disease ISO RGD:69136 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:missense, nonsense mutations:cds:multiple (human) PMID:15068978|REF_RGD_ID:2312751 11889200 HNF1B HNF1 homeobox B gene DOID:4450 renal cell carcinoma ISO RGD:69136 D RGD:7240710 20180130 OMIM 11889200 HNF1B HNF1 homeobox B gene DOID:4471 chromophobe renal cell carcinoma ISO RGD:69136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromophobe renal cell carcinoma PMID:15649945|PMID:16371430|PMID:25536396|PMID:25700310|PMID:25741868 11889200 HNF1B HNF1 homeobox B gene DOID:5419 schizophrenia ISO RGD:69136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11889200 HNF1B HNF1 homeobox B gene DOID:557 kidney disease ISO RGD:69136 D RGD:9068941 20200609 RGD DNA:mutation, deletions::multiple PMID:16971658|REF_RGD_ID:10402549 11889200 HNF1B HNF1 homeobox B gene DOID:557 kidney disease ISO RGD:69136 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:deletion:cds:multiple (human) PMID:17971380|REF_RGD_ID:2312749 11889200 HNF1B HNF1 homeobox B gene DOID:630 genetic disease ISO RGD:69136 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11845237|PMID:11845238|PMID:15509593|PMID:15930087|PMID:16133182|PMID:19389850|PMID:20378641|PMID:20633866|PMID:22432796|PMID:25536396|PMID:25700310|PMID:25741868|PMID:30773290|PMID:33305128 11889200 HNF1B HNF1 homeobox B gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:69136 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease PMID:15930087|PMID:16249435|PMID:18065799|PMID:19639018|PMID:20633866|PMID:21775974|PMID:22114815|PMID:24033266|PMID:24041679|PMID:24097065|PMID:24429398|PMID:24897035|PMID:25536396|PMID:25700310|PMID:25741868|PMID:26467025|PMID:26899772|PMID:28492532|PMID:30259503 11889200 HNF1B HNF1 homeobox B gene DOID:9002304 Prostatic Neoplasms ISO RGD:69136 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18264096|PMID:18758462 11889200 HNF1B HNF1 homeobox B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11889200 HNF1B HNF1 homeobox B gene DOID:9004645 Familial Juvenile Hyperuricemic Nephropathy 3 ISO RGD:69136 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperuricemic nephropathy, familial juvenile type 3 PMID:19639018|PMID:24897035|PMID:25536396|PMID:25741167|PMID:25741868|PMID:26340261|PMID:27615128|PMID:28215227|PMID:28492532|PMID:33434175 11889200 HNF1B HNF1 homeobox B gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:69136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 11889200 HNF1B HNF1 homeobox B gene DOID:9351 diabetes mellitus ISO RGD:69136 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:15930087|PMID:16249435|PMID:18065799|PMID:19639018|PMID:20633866|PMID:21775974|PMID:22114815|PMID:24033266|PMID:24041679|PMID:24097065|PMID:24429398|PMID:24897035|PMID:25536396|PMID:25700310|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:26899772|PMID:27615128|PMID:28215227|PMID:28492532|PMID:30259503|PMID:33434175 11889200 HNF1B HNF1 homeobox B gene DOID:9352 type 2 diabetes mellitus ISO RGD:69136 D RGD:7240710 20180130 OMIM 11889200 HNF1B HNF1 homeobox B gene DOID:9352 type 2 diabetes mellitus ISO RGD:69136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus PMID:12161522|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16249435|PMID:17116179|PMID:17878605|PMID:18249217|PMID:18644064|PMID:19639018|PMID:20378641|PMID:21380624|PMID:21775974|PMID:22051731|PMID:24254850|PMID:24897035|PMID:25441779|PMID:25536396|PMID:25700310|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:27615128|PMID:28215227|PMID:28492532|PMID:29927023|PMID:30481753|PMID:30655312|PMID:31198537|PMID:31498910|PMID:31825128|PMID:32266039|PMID:32708349|PMID:33434175|PMID:33532864|PMID:33663443|PMID:33851123 11889200 HNF1B HNF1 homeobox B gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:69136 D RGD:9068941 20200609 RGD PMID:15883474|REF_RGD_ID:2312750 11889200 HNF1B HNF1 homeobox B gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:69136 D RGD:9068941 20200609 RGD renal cysts and diabetes syndrome, OMIM:137920;DNA:splice-site mutation:intron:IVS2+1G>A PMID:11317673|REF_RGD_ID:1601484 11889218 DPYS dihydropyrimidinase gene DOID:0111590 Cohen syndrome ISO RGD:68541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 11889218 DPYS dihydropyrimidinase gene DOID:0111629 dihydropyrimidinase deficiency ISO RGD:68541 D RGD:7240710 20180130 OMIM 11889218 DPYS dihydropyrimidinase gene DOID:0111629 dihydropyrimidinase deficiency ISO RGD:68541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dihydropyrimidinase deficiency PMID:17383919|PMID:17576681|PMID:18075467|PMID:20362666|PMID:23732435|PMID:25741868|PMID:25915935|PMID:28492532|PMID:28642038|PMID:29054612|PMID:30384990|PMID:33179229|PMID:9266350|PMID:9536098|PMID:9718352 11889218 DPYS dihydropyrimidinase gene DOID:630 genetic disease ISO RGD:68541 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20362666|PMID:25741868|PMID:26244261|PMID:28492532|PMID:28642038 11889218 DPYS dihydropyrimidinase gene DOID:653 purine-pyrimidine metabolic disorder ISO RGD:68541 D RGD:9068941 20200609 RGD dihydropyrimidinuria PMID:9718352|REF_RGD_ID:1599001 11889218 DPYS dihydropyrimidinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:68541 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11889235 CATSPERG cation channel sperm associated auxiliary subunit gamma gene DOID:630 genetic disease ISO RGD:1322128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11889281 LOC100986128 patched domain-containing protein 3 gene DOID:630 genetic disease ISO RGD:1603484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11889300 PHOX2B paired like homeobox 2B gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:1347823 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital central hypoventilation | ClinVar Annotator: match by term: Ondine-Hirschsprung disease PMID:10613788|PMID:12640453|PMID:14566559|PMID:14608649|PMID:14709596|PMID:15121777|PMID:15334515|PMID:15338462|PMID:15657873|PMID:16763219|PMID:16830328|PMID:16873766|PMID:17637745|PMID:17765533|PMID:17928950|PMID:18079495|PMID:19011468|PMID:20208042|PMID:20301600|PMID:20456320|PMID:24033266|PMID:25326635|PMID:25741868|PMID:26063465|PMID:27153395|PMID:28422456|PMID:28492532|PMID:28873162|PMID:29531718|PMID:29543228|PMID:29704303|PMID:30672101|PMID:32573669|PMID:34298581 11889300 PHOX2B paired like homeobox 2B gene DOID:10487 Hirschsprung's disease ISO RGD:1347823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 11889300 PHOX2B paired like homeobox 2B gene DOID:2394 ovarian cancer ISO RGD:1347823 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 11889300 PHOX2B paired like homeobox 2B gene DOID:630 genetic disease ISO RGD:1347823 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12640453|PMID:14566559|PMID:14608649|PMID:15024693|PMID:15121777|PMID:15334515|PMID:15657873|PMID:16888290|PMID:19058226|PMID:19422034|PMID:20208042|PMID:20301600|PMID:24033266|PMID:24169930|PMID:25741868|PMID:26063465|PMID:28371199|PMID:29531718 11889300 PHOX2B paired like homeobox 2B gene DOID:769 neuroblastoma ISO RGD:1347823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma 11889300 PHOX2B paired like homeobox 2B gene DOID:769 neuroblastoma exacerbates ISO RGD:1347823 D RGD:9068941 20220408 RGD human cell line in a mouse model PMID:26840262|REF_RGD_ID:151667442 11889300 PHOX2B paired like homeobox 2B gene DOID:8778 Crohn's disease ISO RGD:1347823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17435756 11889300 PHOX2B paired like homeobox 2B gene DOID:9000270 Congenital Central Hypoventilation Syndrome 1 ISO RGD:1347823 D RGD:7240710 20220413 OMIM 11889300 PHOX2B paired like homeobox 2B gene DOID:9000270 Congenital Central Hypoventilation Syndrome 1 ISO RGD:1347823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Haddad syndrome PMID:10613788|PMID:12640453|PMID:14709596|PMID:15024693|PMID:15121777|PMID:15338462|PMID:15657873|PMID:15888479|PMID:15949893|PMID:16199547|PMID:16249188|PMID:16443855|PMID:16763219|PMID:16830328|PMID:16873766|PMID:17576681|PMID:17637745|PMID:17765533|PMID:17928950|PMID:18079495|PMID:18292934|PMID:19011468|PMID:19058226|PMID:20208042|PMID:23754957|PMID:23873030|PMID:24033266|PMID:24728327|PMID:25156769|PMID:25741868|PMID:26375764|PMID:26580448|PMID:27013732|PMID:27153395|PMID:28371199|PMID:28422456|PMID:28492532|PMID:28873162|PMID:29098737|PMID:29543228|PMID:29641532|PMID:29696799|PMID:29704303|PMID:30092902|PMID:30672101|PMID:33958749|PMID:9536098 11889300 PHOX2B paired like homeobox 2B gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1347823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 11889300 PHOX2B paired like homeobox 2B gene DOID:9001305 Neuroblastoma 2 ISO RGD:1347823 D RGD:7240710 20230505 OMIM 11889300 PHOX2B paired like homeobox 2B gene DOID:9001305 Neuroblastoma 2 ISO RGD:1347823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 2 PMID:12640453|PMID:15024693|PMID:15121777|PMID:15338462|PMID:15657873|PMID:15949893|PMID:16249188|PMID:16443855|PMID:16691592|PMID:16763219|PMID:16830328|PMID:17637745|PMID:17765533|PMID:18079495|PMID:19011468|PMID:19058226|PMID:20208042|PMID:23754957|PMID:23873030|PMID:24033266|PMID:25741868|PMID:27013732|PMID:27153395|PMID:28371199|PMID:28492532|PMID:28873162 11889300 PHOX2B paired like homeobox 2B gene DOID:9001466 Hirschsprung Disease Ganglioneuroblastoma ISO RGD:1347823 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hirschsprung disease ganglioneuroblastoma PMID:11953745|PMID:12438263|PMID:15024693|PMID:15338462|PMID:17637745|PMID:20089899|PMID:23754957|PMID:23873030 11889300 PHOX2B paired like homeobox 2B gene DOID:9003671 Hypoventilation ISO RGD:1347823 D RGD:9068941 20200609 RGD PMID:12640453|PMID:14566559|REF_RGD_ID:1599147|REF_RGD_ID:1599148 11889300 PHOX2B paired like homeobox 2B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347823 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11953745|PMID:12438263|PMID:12640453|PMID:14566559|PMID:14608649|PMID:14709596|PMID:15024693|PMID:15121777|PMID:15334515|PMID:15338462|PMID:15657873|PMID:15949893|PMID:16249188|PMID:16443855|PMID:16691592|PMID:16763219|PMID:16830328|PMID:16888290|PMID:17576681|PMID:17637745|PMID:17765533|PMID:18079495|PMID:18157832|PMID:18292934|PMID:18407552|PMID:18798833|PMID:19011468|PMID:19058226|PMID:19422034|PMID:20089899|PMID:20208042|PMID:20301600|PMID:20456320|PMID:21373876|PMID:23460419|PMID:23622117|PMID:23754957|PMID:23873030|PMID:24033266|PMID:24169930|PMID:24728327|PMID:25156769|PMID:25319843|PMID:25741868|PMID:26063465|PMID:26375764|PMID:26580448|PMID:27013732|PMID:27153395|PMID:28371199|PMID:28422456|PMID:28492532|PMID:28873162|PMID:29531718|PMID:29543228|PMID:29641532|PMID:29704303|PMID:30518452|PMID:30672101|PMID:30850150|PMID:32573669|PMID:33958749|PMID:34298581|PMID:9536098 11889300 PHOX2B paired like homeobox 2B gene DOID:9256 colorectal cancer ISO RGD:1347823 D RGD:9068941 20220505 RGD DNA:hypermethylation: : (human) PMID:22552777|REF_RGD_ID:152025258 11889306 PNOC prepronociceptin gene DOID:0060001 withdrawal disorder ISO RGD:733566 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10680585 11889306 PNOC prepronociceptin gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:733566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11889306 PNOC prepronociceptin gene DOID:0080855 Parkinsonism ISO RGD:733566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26687234 11889306 PNOC prepronociceptin gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:733566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11889306 PNOC prepronociceptin gene DOID:630 genetic disease ISO RGD:733566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11889306 PNOC prepronociceptin gene DOID:8927 learning disability ISO RGD:733566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10401555 11889306 PNOC prepronociceptin gene DOID:9000641 Pain ISO RGD:733566 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19231294 11889306 PNOC prepronociceptin gene DOID:9001579 Neurogenic Inflammation ISO RGD:733566 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11973003 11889306 PNOC prepronociceptin gene DOID:9001600 Wounds and Injuries ISO RGD:3362 D RGD:9068941 20200609 RGD protein:decreased expression:hypothalamus: PMID:11931711|REF_RGD_ID:9835019 11889306 PNOC prepronociceptin gene DOID:9002211 Hyperalgesia ISO RGD:733566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12665541|PMID:19231294 11889306 PNOC prepronociceptin gene DOID:9006024 Hypotension ISO RGD:733566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10794074 11889306 PNOC prepronociceptin gene DOID:9008023 Memory Disorders ISO RGD:733566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10401555 11889326 RTN2 reticulon 2 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1351891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant PMID:25741868|PMID:26467025|PMID:28492532 11889326 RTN2 reticulon 2 gene DOID:0110765 hereditary spastic paraplegia 12 ISO RGD:1351891 D RGD:7240710 20180130 OMIM 11889326 RTN2 reticulon 2 gene DOID:0110765 hereditary spastic paraplegia 12 ISO RGD:1351891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 12 PMID:10677333|PMID:12427890|PMID:22232211|PMID:25741868|PMID:26467025|PMID:27165006|PMID:28492532 11889326 RTN2 reticulon 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1351891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:26467025|PMID:28492532 11889326 RTN2 reticulon 2 gene DOID:607 paraplegia ISO RGD:1351891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:17576681|PMID:22232211|PMID:25741868|PMID:26467025|PMID:27165006|PMID:28166811|PMID:28492532|PMID:9536098 11889326 RTN2 reticulon 2 gene DOID:630 genetic disease ISO RGD:1351891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11889326 RTN2 reticulon 2 gene DOID:9005668 Dental Medial Diastema ISO RGD:1351891 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diastema, dental medial PMID:25741868|PMID:26467025|PMID:28492532 11889342 ZNF792 zinc finger protein 792 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1606468 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11889342 ZNF792 zinc finger protein 792 gene DOID:630 genetic disease ISO RGD:1606468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11889356 IHH Indian hedgehog signaling molecule gene DOID:0050424 familial adenomatous polyposis ISO RGD:1350368 D RGD:9068941 20200609 RGD PMID:25307863|REF_RGD_ID:11528847 11889356 IHH Indian hedgehog signaling molecule gene DOID:0050424 familial adenomatous polyposis ISO RGD:1552237 D RGD:9068941 20200609 RGD PMID:25307863|REF_RGD_ID:11528847 11889356 IHH Indian hedgehog signaling molecule gene DOID:0050581 brachydactyly ISO RGD:1350368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly 11889356 IHH Indian hedgehog signaling molecule gene DOID:0050604 acrocapitofemoral dysplasia ISO RGD:1350368 D RGD:7240710 20180130 OMIM 11889356 IHH Indian hedgehog signaling molecule gene DOID:0050604 acrocapitofemoral dysplasia ISO RGD:1350368 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acrocapitofemoral dysplasia PMID:12624140|PMID:12632327|PMID:25741868|PMID:28492532|PMID:34530144 11889356 IHH Indian hedgehog signaling molecule gene DOID:0060041 autism spectrum disorder ISO RGD:1350368 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:26691363|REF_RGD_ID:11561296 11889356 IHH Indian hedgehog signaling molecule gene DOID:0060850 annular pancreas ISO RGD:1552237 D RGD:9068941 20220825 MouseDO OMIM:167750 11889356 IHH Indian hedgehog signaling molecule gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1350368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11889356 IHH Indian hedgehog signaling molecule gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1350368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11889356 IHH Indian hedgehog signaling molecule gene DOID:0110964 brachydactyly type A1 ISO RGD:1350368 D RGD:7240710 20180130 OMIM 11889356 IHH Indian hedgehog signaling molecule gene DOID:0110964 brachydactyly type A1 ISO RGD:1350368 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Brachydactyly Farabee type | ClinVar Annotator: match by term: Brachydactyly type A1 PMID:11455389|PMID:12384778|PMID:12525541|PMID:12566523|PMID:14043746|PMID:15886999|PMID:16871364|PMID:17486609|PMID:18794898|PMID:19252479|PMID:19277064|PMID:25741868|PMID:28492532 11889356 IHH Indian hedgehog signaling molecule gene DOID:0111816 syndactyly type 1 ISO RGD:1350368 D RGD:9068941 20200609 RGD DNA:duplications PMID:21167467|REF_RGD_ID:12910956 11889356 IHH Indian hedgehog signaling molecule gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1350368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11889356 IHH Indian hedgehog signaling molecule gene DOID:10487 Hirschsprung's disease ISO RGD:1350368 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 11889356 IHH Indian hedgehog signaling molecule gene DOID:13025 retinopathy of prematurity ISO RGD:1350368 D RGD:9068941 20200609 RGD DNA:SNP PMID:18787502|REF_RGD_ID:12910978 11889356 IHH Indian hedgehog signaling molecule gene DOID:2602 chondroma ISO RGD:1552237 D RGD:9068941 20200609 RGD PMID:26091072|REF_RGD_ID:12910968 11889356 IHH Indian hedgehog signaling molecule gene DOID:289 endometriosis ISO RGD:1350368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 11889356 IHH Indian hedgehog signaling molecule gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1350368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11889356 IHH Indian hedgehog signaling molecule gene DOID:5119 ovarian cyst ISO RGD:1350368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 11889356 IHH Indian hedgehog signaling molecule gene DOID:630 genetic disease ISO RGD:1350368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11889356 IHH Indian hedgehog signaling molecule gene DOID:8398 osteoarthritis ISO RGD:1350368 D RGD:9068941 20200609 RGD protein:increased expression:cartilage PMID:24786088|REF_RGD_ID:12910979 11889356 IHH Indian hedgehog signaling molecule gene DOID:8398 osteoarthritis ISO RGD:1552237 D RGD:9068941 20200609 RGD PMID:24786088|REF_RGD_ID:12910979 11889356 IHH Indian hedgehog signaling molecule gene DOID:8398 osteoarthritis ISO RGD:620021 D RGD:9068941 20200609 RGD PMID:24786088|REF_RGD_ID:12910979 11889356 IHH Indian hedgehog signaling molecule gene DOID:9002869 Schistosomiasis Mansoni ISO RGD:1350368 D RGD:9068941 20200609 RGD PMID:23121638|REF_RGD_ID:12910981 11889356 IHH Indian hedgehog signaling molecule gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11889356 IHH Indian hedgehog signaling molecule gene DOID:9005639 Mandibular Fractures ISO RGD:620021 D RGD:9068941 20200609 RGD PMID:23992905|REF_RGD_ID:12911207 11889356 IHH Indian hedgehog signaling molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11889364 PIDD1 p53-induced death domain protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1323429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11889364 PIDD1 p53-induced death domain protein 1 gene DOID:0050729 neutral lipid storage disease ISO RGD:1323429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 11889364 PIDD1 p53-induced death domain protein 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1323429 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11889364 PIDD1 p53-induced death domain protein 1 gene DOID:0081234 autosomal recessive intellectual developmental disorder 75 ISO RGD:1323429 D RGD:7240710 20220427 OMIM 11889364 PIDD1 p53-induced death domain protein 1 gene DOID:0081234 autosomal recessive intellectual developmental disorder 75 ISO RGD:1323429 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly | ClinVar Annotator: match by term: PIDD1-associated neurodevelopmental disorder PMID:16199547|PMID:25741868|PMID:28397838|PMID:28492532|PMID:29302074|PMID:33414379|PMID:34163010 11889364 PIDD1 p53-induced death domain protein 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:1323429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11889364 PIDD1 p53-induced death domain protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1323429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11889364 PIDD1 p53-induced death domain protein 1 gene DOID:1059 intellectual disability ISO RGD:1323429 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:28397838|PMID:33414379 11889364 PIDD1 p53-induced death domain protein 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1323429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11889364 PIDD1 p53-induced death domain protein 1 gene DOID:4450 renal cell carcinoma ISO RGD:1323429 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20208132 11889364 PIDD1 p53-induced death domain protein 1 gene DOID:630 genetic disease ISO RGD:1323429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11889364 PIDD1 p53-induced death domain protein 1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1323429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11889399 ATRNL1 attractin like 1 gene DOID:630 genetic disease ISO RGD:1607060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11889440 TSR3 TSR3 ribosome maturation factor gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1352414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 11889440 TSR3 TSR3 ribosome maturation factor gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1352414 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11889440 TSR3 TSR3 ribosome maturation factor gene DOID:1826 epilepsy ISO RGD:1352414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11889440 TSR3 TSR3 ribosome maturation factor gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1352414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11889440 TSR3 TSR3 ribosome maturation factor gene DOID:630 genetic disease ISO RGD:1352414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11889448 LOC100993876 neuferricin gene DOID:630 genetic disease ISO RGD:1606739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11889461 MYH1 myosin heavy chain 1 gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:1350148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 11889461 MYH1 myosin heavy chain 1 gene DOID:630 genetic disease ISO RGD:1350148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11889506 PRKAG1 protein kinase AMP-activated non-catalytic subunit gamma 1 gene DOID:630 genetic disease ISO RGD:734389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11889569 LAMB2 laminin subunit beta 2 gene DOID:0060852 Pierson syndrome ISO RGD:733412 D RGD:7240710 20180130 OMIM 11889569 LAMB2 laminin subunit beta 2 gene DOID:0060852 Pierson syndrome ISO RGD:733412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:14136829|PMID:15367484|PMID:15372515|PMID:16097004|PMID:16199547|PMID:16898484|PMID:16912710|PMID:17256789|PMID:17576681|PMID:18594871|PMID:18672223|PMID:19251977|PMID:20507940|PMID:20556798|PMID:21236492|PMID:21763483|PMID:2206901|PMID:23349334|PMID:23595123|PMID:24033266|PMID:25349199|PMID:25741868|PMID:26108971|PMID:26239645|PMID:26248470|PMID:26467025|PMID:26467726|PMID:27004562|PMID:27858192|PMID:28188379|PMID:28476686|PMID:28492532|PMID:28780565|PMID:29127259|PMID:30013592|PMID:30295827|PMID:31959872|PMID:32295525|PMID:32860008|PMID:33749661|PMID:9536098 11889569 LAMB2 laminin subunit beta 2 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:733412 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868|PMID:28492532 11889569 LAMB2 laminin subunit beta 2 gene DOID:0080380 nephrotic syndrome type 5 ISO RGD:733412 D RGD:7240710 20180130 OMIM 11889569 LAMB2 laminin subunit beta 2 gene DOID:0080380 nephrotic syndrome type 5 ISO RGD:733412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities PMID:14136829|PMID:15367484|PMID:16097004|PMID:16912710|PMID:17576681|PMID:18594871|PMID:18672223|PMID:19251977|PMID:20556798|PMID:21236492|PMID:21763483|PMID:2206901|PMID:23349334|PMID:23595123|PMID:25741868|PMID:26239645|PMID:26248470|PMID:26467025|PMID:26467726|PMID:27858192|PMID:28492532|PMID:29127259|PMID:30295827|PMID:7885444|PMID:9536098 11889569 LAMB2 laminin subunit beta 2 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:733412 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:20556798|PMID:25741868|PMID:26467025|PMID:28492532 11889569 LAMB2 laminin subunit beta 2 gene DOID:1184 nephrotic syndrome ISO RGD:733412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:15367484|PMID:17576681|PMID:18672223|PMID:2206901|PMID:25741868|PMID:28492532|PMID:29127259|PMID:30295827|PMID:33749661|PMID:9536098 11889569 LAMB2 laminin subunit beta 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:733412 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:20556798|PMID:25741868|PMID:26467025|PMID:28492532 11889569 LAMB2 laminin subunit beta 2 gene DOID:1561 cognitive disorder ISO RGD:733412 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30226399 11889569 LAMB2 laminin subunit beta 2 gene DOID:2527 nephrosis ISO RGD:10854 D RGD:9068941 20220825 MouseDO 11889569 LAMB2 laminin subunit beta 2 gene DOID:2921 glomerulonephritis ISO RGD:733412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glomerulonephritis PMID:25741868|PMID:28492532 11889569 LAMB2 laminin subunit beta 2 gene DOID:557 kidney disease ISO RGD:733412 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:18594871|PMID:20556798|PMID:21763483|PMID:23349334|PMID:25741868|PMID:26239645|PMID:26248470|PMID:26467025|PMID:27858192|PMID:28492532 11889569 LAMB2 laminin subunit beta 2 gene DOID:576 proteinuria ISO RGD:2988 D RGD:9068941 20200609 RGD PMID:21511833|REF_RGD_ID:7207433 11889569 LAMB2 laminin subunit beta 2 gene DOID:630 genetic disease ISO RGD:733412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 11889569 LAMB2 laminin subunit beta 2 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:733412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11889569 LAMB2 laminin subunit beta 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2988 D RGD:9068941 20200609 RGD PMID:19864299|REF_RGD_ID:7207449 11889569 LAMB2 laminin subunit beta 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733412 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11889569 LAMB2 laminin subunit beta 2 gene DOID:9008897 Diffuse Mesangial Sclerosis ISO RGD:733412 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Diffuse mesangial sclerosis PMID:25741868|PMID:28492532 11889606 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:0050451 Brugada syndrome ISO RGD:731904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:19120683|PMID:20558321|PMID:21215473|PMID:21836131|PMID:22056721|PMID:22365152|PMID:22562657|PMID:22840528|PMID:23465283|PMID:23632791|PMID:24176758|PMID:24700710|PMID:25741868|PMID:25998140|PMID:27711072|PMID:28492532|PMID:28750076|PMID:32215968 11889606 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:0060319 cardiac arrest ISO RGD:731904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:28492532 11889606 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type ISO RGD:731904 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type PMID:24176758|PMID:24700710|PMID:25741868|PMID:28492532|PMID:32215968 11889606 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:0080855 Parkinsonism ISO RGD:2960 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:striatum, hippocampus (rat) PMID:15857625|REF_RGD_ID:1598645 11889606 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:0110218 Brugada syndrome 1 ISO RGD:731904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 1 PMID:25741868 11889606 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:731904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:28492532 11889606 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:0111151 Prinzmetal angina ISO RGD:10835 D RGD:9068941 20200609 RGD PMID:11984590|REF_RGD_ID:1581700 11889606 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:10763 hypertension ISO RGD:2960 D RGD:9068941 20200609 RGD PMID:16051697|REF_RGD_ID:1581698 11889606 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:11446 sciatic neuropathy ISO RGD:2960 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:21907492|REF_RGD_ID:12791994 11889606 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:19120683|PMID:20558321|PMID:22056721|PMID:22365152|PMID:22562657|PMID:22840528|PMID:23632791|PMID:24700710|PMID:25741868|PMID:28492532 11889606 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:3393 coronary artery disease ISO RGD:10835 D RGD:9068941 20220825 MouseDO OMIM:300464 | OMIM:607339 | OMIM:608316 | OMIM:608318 | OMIM:608320 | OMIM:608901 | OMIM:610938 | OMIM:610947 | OMIM:611139 | OMIM:612030 | OMIM:614293 | OMIM:614466 11889606 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:630 genetic disease ISO RGD:731904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11889606 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:28492532 11889606 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9000184 Ventricular Fibrillation ISO RGD:731904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19120683 11889606 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:731904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19120683 11889606 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9000528 Coronary Disease no_association ISO RGD:731904 D RGD:9068941 20200609 RGD PMID:12964027|REF_RGD_ID:1581699 11889606 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11889606 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:731904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:19120683|PMID:20558321|PMID:21215473|PMID:21836131|PMID:22056721|PMID:22365152|PMID:22562657|PMID:22840528|PMID:23465283|PMID:23632791|PMID:24176758|PMID:24700710|PMID:25741868|PMID:25998140|PMID:27711072|PMID:28492532|PMID:28750076|PMID:32215968 11889606 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9004009 Reperfusion Injury ISO RGD:2960 D RGD:9068941 20200609 RGD PMID:10708603|REF_RGD_ID:1581697 11889606 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9007 sudden infant death syndrome ISO RGD:731904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:28492532 11889606 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9007102 Myocardial Ischemia ISO RGD:2960 D RGD:9068941 20200609 RGD PMID:26591689|PMID:9399952|REF_RGD_ID:12790977|REF_RGD_ID:1598652 11889606 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9007102 Myocardial Ischemia ISO RGD:731904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11889606 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9007820 Sudden Death ISO RGD:731904 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:25741868|PMID:28492532 11889606 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2960 D RGD:9068941 20200609 RGD PMID:12234964|REF_RGD_ID:729109 11889620 CXCL17 C-X-C motif chemokine ligand 17 gene DOID:0080600 COVID-19 ISO RGD:1602051 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11889620 CXCL17 C-X-C motif chemokine ligand 17 gene DOID:5419 schizophrenia ISO RGD:1602051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11889620 CXCL17 C-X-C motif chemokine ligand 17 gene DOID:630 genetic disease ISO RGD:1602051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11889628 GLMP glycosylated lysosomal membrane protein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11889628 GLMP glycosylated lysosomal membrane protein gene DOID:0080600 COVID-19 ISO RGD:1602078 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11889628 GLMP glycosylated lysosomal membrane protein gene DOID:0111940 immunodeficiency 42 ISO RGD:1602078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11889628 GLMP glycosylated lysosomal membrane protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1602078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11889628 GLMP glycosylated lysosomal membrane protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1602078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11889628 GLMP glycosylated lysosomal membrane protein gene DOID:1540 parathyroid carcinoma ISO RGD:1602078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11889628 GLMP glycosylated lysosomal membrane protein gene DOID:5812 MHC class II deficiency ISO RGD:1602078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11889628 GLMP glycosylated lysosomal membrane protein gene DOID:630 genetic disease ISO RGD:1602078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11889628 GLMP glycosylated lysosomal membrane protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11889639 C10H10orf71 chromosome 10 C10orf71 homolog gene DOID:11372 megacolon ISO RGD:1353451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11889639 C10H10orf71 chromosome 10 C10orf71 homolog gene DOID:5419 schizophrenia ISO RGD:1353451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11889639 C10H10orf71 chromosome 10 C10orf71 homolog gene DOID:630 genetic disease ISO RGD:1353451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11889640 ATP4A ATPase H+/K+ transporting subunit alpha gene DOID:0110222 Brugada syndrome 5 ISO RGD:734000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11889640 ATP4A ATPase H+/K+ transporting subunit alpha gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:734000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11889640 ATP4A ATPase H+/K+ transporting subunit alpha gene DOID:543 dystonia ISO RGD:734000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11889640 ATP4A ATPase H+/K+ transporting subunit alpha gene DOID:630 genetic disease ISO RGD:734000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11889666 A4GALT alpha 1,4-galactosyltransferase (P blood group) gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:734223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 11889666 A4GALT alpha 1,4-galactosyltransferase (P blood group) gene DOID:1059 intellectual disability ISO RGD:734223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11889666 A4GALT alpha 1,4-galactosyltransferase (P blood group) gene DOID:4257 Caffey disease ISO RGD:734223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile cortical hyperostosis PMID:20971946 11889666 A4GALT alpha 1,4-galactosyltransferase (P blood group) gene DOID:630 genetic disease ISO RGD:734223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11889666 A4GALT alpha 1,4-galactosyltransferase (P blood group) gene DOID:8584 Burkitt lymphoma ISO RGD:734223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11482875 11889666 A4GALT alpha 1,4-galactosyltransferase (P blood group) gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:734223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 11889666 A4GALT alpha 1,4-galactosyltransferase (P blood group) gene DOID:9005170 polyagglutination ISO RGD:734223 D RGD:7240710 20230505 OMIM 11889666 A4GALT alpha 1,4-galactosyltransferase (P blood group) gene DOID:9005651 NOR POLYAGGLUTINATION SYNDROME ISO RGD:734223 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: NOR polyagglutination syndrome PMID:22965229|PMID:7072192|PMID:9920164 11889675 PLEKHA6 pleckstrin homology domain containing A6 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1353676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11889675 PLEKHA6 pleckstrin homology domain containing A6 gene DOID:12849 autistic disorder ISO RGD:1353676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11889675 PLEKHA6 pleckstrin homology domain containing A6 gene DOID:1540 parathyroid carcinoma ISO RGD:1353676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11889675 PLEKHA6 pleckstrin homology domain containing A6 gene DOID:630 genetic disease ISO RGD:1353676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11889675 PLEKHA6 pleckstrin homology domain containing A6 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1353676 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11889675 PLEKHA6 pleckstrin homology domain containing A6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11889778 SNRNP40 small nuclear ribonucleoprotein U5 subunit 40 gene DOID:630 genetic disease ISO RGD:1606327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11889792 FOXL1 forkhead box L1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1353210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 11889792 FOXL1 forkhead box L1 gene DOID:630 genetic disease ISO RGD:1353210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11889797 CRTAP cartilage associated protein gene DOID:0110337 osteogenesis imperfecta type 7 ISO RGD:1320245 D RGD:7240710 20180130 OMIM 11889797 CRTAP cartilage associated protein gene DOID:0110337 osteogenesis imperfecta type 7 ISO RGD:1320245 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 PMID:12110406|PMID:16199547|PMID:17055431|PMID:17192541|PMID:17576681|PMID:18414213|PMID:18566967|PMID:18996919|PMID:19550437|PMID:19846465|PMID:19862557|PMID:21955071|PMID:23054245|PMID:24033266|PMID:24715559|PMID:25604815|PMID:25741868|PMID:27509835|PMID:28116328|PMID:28492532|PMID:31742715|PMID:32922437|PMID:9536098 11889797 CRTAP cartilage associated protein gene DOID:12347 osteogenesis imperfecta ISO RGD:1320245 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:16199547|PMID:17055431|PMID:17192541|PMID:18996919|PMID:19550437|PMID:24033266|PMID:25741868|PMID:28492532 11889797 CRTAP cartilage associated protein gene DOID:12347 osteogenesis imperfecta ISO RGD:1320245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:16199547|PMID:17055431|PMID:17192541|PMID:18996919|PMID:19550437|PMID:19862557|PMID:24033266|PMID:24715559|PMID:25741868|PMID:28492532 11889797 CRTAP cartilage associated protein gene DOID:630 genetic disease ISO RGD:1320245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11889797 CRTAP cartilage associated protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11889808 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:0050783 secondary progressive multiple sclerosis ISO RGD:1348965 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Chronic progressive multiple sclerosis 11889808 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:1348965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic progressive multiple sclerosis 11889808 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia ISO RGD:1348965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11889808 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:0060211 amyotrophic lateral sclerosis type 20 ISO RGD:1348965 D RGD:7240710 20180130 OMIM 11889808 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:0060211 amyotrophic lateral sclerosis type 20 ISO RGD:1348965 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 20 PMID:23455423|PMID:25741868 11889808 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:0111386 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 ISO RGD:1348965 D RGD:7240710 20180130 OMIM 11889808 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:0111386 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 ISO RGD:1348965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 PMID:20116073|PMID:23455423|PMID:25616961|PMID:25741868 11889808 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:10652 Alzheimer's disease ISO RGD:1348965 D RGD:9068941 20200609 RGD protein:decreased expression:entorhinal cortex (human) PMID:22628224|REF_RGD_ID:9999191 11889808 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:1348965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Relapsing remitting multiple sclerosis 11889808 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:305 carcinoma ISO RGD:1348965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11889808 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:321 tropical spastic paraparesis ISO RGD:1348965 D RGD:9068941 20200609 RGD PMID:11984596|REF_RGD_ID:10045967 11889808 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1348965 D RGD:9068941 20200609 RGD protein:increased expression:lung (human) PMID:20716340|REF_RGD_ID:9999189 11889808 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:3910 lung adenocarcinoma ISO RGD:1348965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11889808 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:630 genetic disease ISO RGD:1348965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11889808 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:684 hepatocellular carcinoma ISO RGD:1348965 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:23633480|REF_RGD_ID:9685423 11889808 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1348965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11889808 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11889808 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1348965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11889808 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:9006205 Animal Disease Models ISO RGD:1348965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11889808 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1348965 D RGD:9068941 20200609 RGD protein:altered expression:colonic epithelium, nucleus, cytoplasm (human) PMID:21194727|REF_RGD_ID:9999439 11889827 CEACAM19 CEA cell adhesion molecule 19 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1601983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 11889827 CEACAM19 CEA cell adhesion molecule 19 gene DOID:630 genetic disease ISO RGD:1601983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11889847 CEP192 centrosomal protein 192 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1605669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11889847 CEP192 centrosomal protein 192 gene DOID:1059 intellectual disability ISO RGD:1605669 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11889847 CEP192 centrosomal protein 192 gene DOID:630 genetic disease ISO RGD:1605669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11889897 FSTL5 follistatin like 5 gene DOID:3312 bipolar disorder ISO RGD:1315715 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 11889897 FSTL5 follistatin like 5 gene DOID:630 genetic disease ISO RGD:1315715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11889916 IWS1 interacts with SUPT6H, CTD assembly factor 1 gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:1604340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:28492532 11889916 IWS1 interacts with SUPT6H, CTD assembly factor 1 gene DOID:0111220 centronuclear myopathy 2 ISO RGD:1604340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:28492532 11889916 IWS1 interacts with SUPT6H, CTD assembly factor 1 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1604340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 11889916 IWS1 interacts with SUPT6H, CTD assembly factor 1 gene DOID:630 genetic disease ISO RGD:1604340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11889950 METTL23 methyltransferase 23, arginine gene DOID:0081208 autosomal recessive intellectual developmental disorder 44 ISO RGD:2298732 D RGD:7240710 20180130 OMIM 11889950 METTL23 methyltransferase 23, arginine gene DOID:0081208 autosomal recessive intellectual developmental disorder 44 ISO RGD:2298732 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 44 PMID:24501276|PMID:24626631|PMID:25741868|PMID:28492532|PMID:32067349|PMID:32439618|PMID:32860008 11889950 METTL23 methyltransferase 23, arginine gene DOID:1059 intellectual disability ISO RGD:2298732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24626631 11889950 METTL23 methyltransferase 23, arginine gene DOID:1686 glaucoma ISO RGD:1314817 D RGD:9068941 20221215 MouseDO 11889950 METTL23 methyltransferase 23, arginine gene DOID:630 genetic disease ISO RGD:2298732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24501276|PMID:24626631|PMID:25741868|PMID:28492532|PMID:32860008 11889968 RASEF RAS and EF-hand domain containing gene DOID:630 genetic disease ISO RGD:1315020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11889989 P2RX2 purinergic receptor P2X 2 gene DOID:0110567 autosomal dominant nonsyndromic deafness 41 ISO RGD:733979 D RGD:7240710 20180130 OMIM 11889989 P2RX2 purinergic receptor P2X 2 gene DOID:0110567 autosomal dominant nonsyndromic deafness 41 ISO RGD:733979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 41 PMID:12161595|PMID:23345450|PMID:24033266|PMID:24211385|PMID:25741868|PMID:25788561|PMID:28492532|PMID:31636190 11889989 P2RX2 purinergic receptor P2X 2 gene DOID:10003 sensorineural hearing loss ISO RGD:733979 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:19461658|PMID:28492532|PMID:30311386|PMID:34652575 11889989 P2RX2 purinergic receptor P2X 2 gene DOID:1826 epilepsy ISO RGD:733979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12941474 11889989 P2RX2 purinergic receptor P2X 2 gene DOID:630 genetic disease ISO RGD:733979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:26467025|PMID:28492532 11889989 P2RX2 purinergic receptor P2X 2 gene DOID:9002211 Hyperalgesia ISO RGD:733979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19383439 11889989 P2RX2 purinergic receptor P2X 2 gene DOID:9256 colorectal cancer ISO RGD:733979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 11890005 ALDH5A1 aldehyde dehydrogenase 5 family member A1 gene DOID:0060041 autism spectrum disorder ISO RGD:735245 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11890005 ALDH5A1 aldehyde dehydrogenase 5 family member A1 gene DOID:0060175 succinic semialdehyde dehydrogenase deficiency ISO RGD:735245 D RGD:7240710 20180130 OMIM 11890005 ALDH5A1 aldehyde dehydrogenase 5 family member A1 gene DOID:0060175 succinic semialdehyde dehydrogenase deficiency ISO RGD:735245 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency PMID:10633133|PMID:11243727|PMID:11544478|PMID:11901270|PMID:12208142|PMID:12507422|PMID:1301198|PMID:14523039|PMID:14635103|PMID:16115930|PMID:16199547|PMID:16442322|PMID:16542398|PMID:16545979|PMID:17438226|PMID:17576681|PMID:19484191|PMID:20304328|PMID:21612881|PMID:22437753|PMID:23430864|PMID:23825041|PMID:23926001|PMID:24033266|PMID:25122112|PMID:25246302|PMID:25363768|PMID:25431891|PMID:25558043|PMID:25741868|PMID:26220405|PMID:26268900|PMID:26964512|PMID:27056292|PMID:27104484|PMID:27117035|PMID:27815844|PMID:27824329|PMID:27896081|PMID:28186584|PMID:28191889|PMID:28407358|PMID:28492532|PMID:28664505|PMID:29895405|PMID:30091983|PMID:30829465|PMID:31117962|PMID:31267348|PMID:32005694|PMID:32093054|PMID:32223457|PMID:32238909|PMID:32348839|PMID:32395407|PMID:32402538|PMID:32887777|PMID:32907636|PMID:33203024|PMID:34882073|PMID:9536098|PMID:9683595 11890005 ALDH5A1 aldehyde dehydrogenase 5 family member A1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:735245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 11890005 ALDH5A1 aldehyde dehydrogenase 5 family member A1 gene DOID:10283 prostate cancer ISO RGD:735245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11890005 ALDH5A1 aldehyde dehydrogenase 5 family member A1 gene DOID:1059 intellectual disability ISO RGD:735245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11890005 ALDH5A1 aldehyde dehydrogenase 5 family member A1 gene DOID:1826 epilepsy ISO RGD:735245 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 11890005 ALDH5A1 aldehyde dehydrogenase 5 family member A1 gene DOID:543 dystonia ISO RGD:735245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17438226 11890005 ALDH5A1 aldehyde dehydrogenase 5 family member A1 gene DOID:630 genetic disease ISO RGD:735245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11243727|PMID:11544478|PMID:14635103|PMID:16199547|PMID:19484191|PMID:25431891|PMID:25741868|PMID:27104484|PMID:27896081|PMID:28492532|PMID:30091983|PMID:32402538|PMID:33203024|PMID:34882073 11890005 ALDH5A1 aldehyde dehydrogenase 5 family member A1 gene DOID:9003814 Neurologic Manifestations ISO RGD:735245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29031482 11890005 ALDH5A1 aldehyde dehydrogenase 5 family member A1 gene DOID:9005627 Metabolic Brain Diseases ISO RGD:735245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17438226 11890005 ALDH5A1 aldehyde dehydrogenase 5 family member A1 gene DOID:9006205 Animal Disease Models ISO RGD:735245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29031482 11890018 PPP1R9B protein phosphatase 1 regulatory subunit 9B gene DOID:0050127 sinusitis ISO RGD:733635 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18391768 11890018 PPP1R9B protein phosphatase 1 regulatory subunit 9B gene DOID:0060058 lymphoma susceptibility ISO RGD:1552611 D RGD:9068941 20200609 RGD PMID:21670604|REF_RGD_ID:10043812 11890018 PPP1R9B protein phosphatase 1 regulatory subunit 9B gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:733635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:23949819|PMID:25944380|PMID:26478226|PMID:28492532|PMID:7942841|PMID:9295084|PMID:9443882 11890018 PPP1R9B protein phosphatase 1 regulatory subunit 9B gene DOID:10652 Alzheimer's disease ISO RGD:1552611 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (mouse) PMID:23764848|REF_RGD_ID:10043802 11890018 PPP1R9B protein phosphatase 1 regulatory subunit 9B gene DOID:10652 Alzheimer's disease severity ISO RGD:733635 D RGD:9068941 20200609 RGD protein:decreased expression:brain, synaptosome (human) PMID:23764848|REF_RGD_ID:10043802 11890018 PPP1R9B protein phosphatase 1 regulatory subunit 9B gene DOID:14330 Parkinson's disease ISO RGD:632281 D RGD:9068941 20200609 RGD protein:altered localization:striate nucleus (rat) PMID:18372251|REF_RGD_ID:10043801 11890018 PPP1R9B protein phosphatase 1 regulatory subunit 9B gene DOID:5419 schizophrenia ISO RGD:733635 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampal formation (human) PMID:15465982|REF_RGD_ID:9999381 11890018 PPP1R9B protein phosphatase 1 regulatory subunit 9B gene DOID:630 genetic disease ISO RGD:733635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11890018 PPP1R9B protein phosphatase 1 regulatory subunit 9B gene DOID:684 hepatocellular carcinoma severity ISO RGD:733635 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver (human) PMID:23591196|REF_RGD_ID:10043803 11890018 PPP1R9B protein phosphatase 1 regulatory subunit 9B gene DOID:9001472 Nasal Polyps ISO RGD:733635 D RGD:9068941 20200609 RGD associated with Chronic Rhinosinusitis;mRNA:increased expression:mucosa of paranasal sinus (human) PMID:18391768|REF_RGD_ID:9999402 11890018 PPP1R9B protein phosphatase 1 regulatory subunit 9B gene DOID:9002775 Cognitive Dysfunction ISO RGD:632281 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus, insoluble fraction (rat) PMID:24069387|REF_RGD_ID:9999367 11890018 PPP1R9B protein phosphatase 1 regulatory subunit 9B gene DOID:9005172 Lung Neoplasms severity ISO RGD:733635 D RGD:9068941 20200609 RGD protein:decreased expression:lung (human) PMID:21598252|REF_RGD_ID:10043809 11890018 PPP1R9B protein phosphatase 1 regulatory subunit 9B gene DOID:9008443 Colorectal Neoplasms severity ISO RGD:733635 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:colorectal carcinoma (human) PMID:23729363|REF_RGD_ID:9999401 11890035 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:69201 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11890035 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:736283 D RGD:9068941 20200609 RGD protein:decreased expression:liver (mouse) PMID:29710028|REF_RGD_ID:25671411 11890035 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:0080745 polymyositis ISO RGD:69201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20427501 11890035 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:0080883 vitamin D-dependent rickets ISO RGD:69201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitamin D-dependent rickets 11890035 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:0080886 vitamin D-dependent rickets type 1A ISO RGD:69201 D RGD:7240710 20180130 OMIM 11890035 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:0080886 vitamin D-dependent rickets type 1A ISO RGD:69201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 1A PMID:10518789|PMID:10566658|PMID:11737215|PMID:12050193|PMID:17488797|PMID:18394115|PMID:20926527|PMID:21700898|PMID:22190362|PMID:22443290|PMID:22588163|PMID:23423976|PMID:23444327|PMID:23483640|PMID:24197768|PMID:25284246|PMID:25741868|PMID:27287609|PMID:28492532|PMID:30282619|PMID:31261480|PMID:35738466|PMID:9415400|PMID:9486994|PMID:9837822 11890035 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:0080886 vitamin D-dependent rickets type 1A treatment ISO XCO:0000545 D RGD:9068941 20210326 RGD PMID:32231239|REF_RGD_ID:32716373 11890035 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:0090109 autosomal dominant hypocalcemia ISO RGD:736283 D RGD:9068941 20200609 RGD PMID:11416220|REF_RGD_ID:734871 11890035 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:10609 rickets ISO RGD:69201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16494812 11890035 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:10609 rickets ISO RGD:69201 D RGD:9068941 20200609 RGD vitamin D-dependent rickets type I, OMIM:264700;DNA:missense mutations: :R107H, G125E, R335P, P382S PMID:9486994|REF_RGD_ID:1600874 11890035 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:10609 rickets ISO RGD:736283 D RGD:9068941 20200609 RGD PMID:11416220|REF_RGD_ID:734871 11890035 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:10609 rickets ISO RGD:736283 D RGD:9068941 20220825 MouseDO OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785 11890035 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:12678 hypercalcemia ISO RGD:69201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20427501 11890035 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:13543 hyperparathyroidism ISO RGD:736283 D RGD:9068941 20200609 RGD PMID:11416220|REF_RGD_ID:734871 11890035 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:2043 hepatitis B severity ISO RGD:69201 D RGD:9068941 20200609 RGD DNA:SNP:promoter: -1260C>A (rs10877012) (human) PMID:22963605|REF_RGD_ID:25671410 11890035 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:2527 nephrosis ISO RGD:69192 D RGD:9068941 20200609 RGD PMID:1328752|REF_RGD_ID:2307321 11890035 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:3021 acute kidney failure ISO RGD:69192 D RGD:9068941 20200609 RGD PMID:6223803|REF_RGD_ID:2307326 11890035 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:630 genetic disease ISO RGD:69201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20926527|PMID:25363760|PMID:25741868|PMID:28492532|PMID:9536098 11890035 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:6846 familial melanoma ISO RGD:69201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 11890035 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:893 Wilson disease ISO RGD:69192 D RGD:9068941 20200609 RGD PMID:3348368|REF_RGD_ID:2307322 11890035 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:9002802 Acidoses ISO RGD:69192 D RGD:9068941 20200609 RGD PMID:6282936|REF_RGD_ID:2307324 11890035 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:69201 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: 1260C>A (rs10877012) (human) PMID:21145801|REF_RGD_ID:25671413 11890035 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69192 D RGD:9068941 20200609 RGD PMID:3295473|REF_RGD_ID:2307313 11890035 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:9006359 Vitamin D Deficiency susceptibility ISO RGD:69201 D RGD:9068941 20200609 RGD associated with Diabetes, Gestational;DNA:polymorphism:promoter:g.-1260C>A PMID:18476984|REF_RGD_ID:2307310 11890035 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736283 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney (mouse) PMID:26476181|REF_RGD_ID:25671412 11890035 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:9452 fatty liver disease ISO RGD:736283 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (mouse) PMID:31175967|REF_RGD_ID:25671414 11890035 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:69201 D RGD:9068941 20200609 RGD DNA, mRNA:polymorphism, decreased expression:promoter:g.-1260C>A (human) PMID:17223345|REF_RGD_ID:2307312 11890035 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:69201 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, intron:g.-1260C>A, g.2838T>C (human) PMID:17606874|REF_RGD_ID:2307311 11890035 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:9970 obesity susceptibility ISO RGD:69201 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphisms:promoter, intron:g.-1260C>A, g.2838T>C (human) PMID:17223345|REF_RGD_ID:2307312 11890059 ABHD18 abhydrolase domain containing 18 gene DOID:0110722 neuronal ceroid lipofuscinosis 7 ISO RGD:1604791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 PMID:19177532|PMID:28492532 11890059 ABHD18 abhydrolase domain containing 18 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604791 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 11890059 ABHD18 abhydrolase domain containing 18 gene DOID:630 genetic disease ISO RGD:1604791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11890087 CSK C-terminal Src kinase gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1318780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11890087 CSK C-terminal Src kinase gene DOID:2717 Bloom syndrome ISO RGD:1318780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11890087 CSK C-terminal Src kinase gene DOID:2723 dermatitis ISO RGD:1318781 D RGD:9068941 20200609 RGD PMID:14975240|REF_RGD_ID:5134363 11890087 CSK C-terminal Src kinase gene DOID:5419 schizophrenia ISO RGD:1318780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11890087 CSK C-terminal Src kinase gene DOID:552 pneumonia ISO RGD:1318781 D RGD:9068941 20200609 RGD PMID:14975240|REF_RGD_ID:5134363 11890087 CSK C-terminal Src kinase gene DOID:630 genetic disease ISO RGD:1318780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11890087 CSK C-terminal Src kinase gene DOID:684 hepatocellular carcinoma ISO RGD:1308800 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:9918913|REF_RGD_ID:5134372 11890087 CSK C-terminal Src kinase gene DOID:684 hepatocellular carcinoma ISO RGD:1318780 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:9918913|REF_RGD_ID:5134372 11890087 CSK C-terminal Src kinase gene DOID:9002211 Hyperalgesia ISO RGD:1318780 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16769263 11890087 CSK C-terminal Src kinase gene DOID:9002221 Hyperplasia ISO RGD:1308800 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:large intestine mucosa PMID:15961079|REF_RGD_ID:5134365 11890087 CSK C-terminal Src kinase gene DOID:9002457 Experimental Arthritis ISO RGD:1308800 D RGD:9068941 20200609 RGD PMID:10411542|REF_RGD_ID:5134371 11890087 CSK C-terminal Src kinase gene DOID:9074 systemic lupus erythematosus ISO RGD:1318780 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23042117 11890087 CSK C-terminal Src kinase gene DOID:9256 colorectal cancer ISO RGD:1318780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11890107 WDR49 WD repeat domain 49 gene DOID:10283 prostate cancer ISO RGD:1354020 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11890107 WDR49 WD repeat domain 49 gene DOID:630 genetic disease ISO RGD:1354020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11890127 RAX2 retina and anterior neural fold homeobox 2 gene DOID:0050572 cone-rod dystrophy ISO RGD:1606205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant 11890127 RAX2 retina and anterior neural fold homeobox 2 gene DOID:0110018 age related macular degeneration 6 ISO RGD:1606205 D RGD:7240710 20180130 OMIM 11890127 RAX2 retina and anterior neural fold homeobox 2 gene DOID:0110018 age related macular degeneration 6 ISO RGD:1606205 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 6 PMID:15028672|PMID:25741868|PMID:25986607|PMID:28492532|PMID:30377383 11890127 RAX2 retina and anterior neural fold homeobox 2 gene DOID:0111018 cone-rod dystrophy 11 ISO RGD:1606205 D RGD:7240710 20180130 OMIM 11890127 RAX2 retina and anterior neural fold homeobox 2 gene DOID:0111018 cone-rod dystrophy 11 ISO RGD:1606205 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 11 PMID:15028672|PMID:25741868|PMID:25789692|PMID:25986607|PMID:28492532|PMID:30377383 11890127 RAX2 retina and anterior neural fold homeobox 2 gene DOID:13938 amenorrhea ISO RGD:1606205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11890127 RAX2 retina and anterior neural fold homeobox 2 gene DOID:4448 macular degeneration ISO RGD:1606205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular degeneration 11890127 RAX2 retina and anterior neural fold homeobox 2 gene DOID:630 genetic disease ISO RGD:1606205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11890127 RAX2 retina and anterior neural fold homeobox 2 gene DOID:8466 retinal degeneration ISO RGD:1606205 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15028672 11890127 RAX2 retina and anterior neural fold homeobox 2 gene DOID:8501 fundus dystrophy ISO RGD:1606205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25789692|PMID:28492532|PMID:30377383 11890127 RAX2 retina and anterior neural fold homeobox 2 gene DOID:9008145 Retinitis Pigmentosa 95 ISO RGD:1606205 D RGD:7240710 20221102 OMIM 11890127 RAX2 retina and anterior neural fold homeobox 2 gene DOID:9008145 Retinitis Pigmentosa 95 ISO RGD:1606205 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 95 PMID:28492532|PMID:30377383 11890132 RCC1L RCC1 like gene DOID:1928 Williams-Beuren syndrome ISO RGD:1316823 D RGD:9068941 20200609 RGD PMID:12073013|REF_RGD_ID:1580600 11890132 RCC1L RCC1 like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11890132 RCC1L RCC1 like gene DOID:630 genetic disease ISO RGD:1316823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11890132 RCC1L RCC1 like gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1316823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 11890147 TMC3 transmembrane channel like 3 gene DOID:2717 Bloom syndrome ISO RGD:1352795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11890147 TMC3 transmembrane channel like 3 gene DOID:630 genetic disease ISO RGD:1352795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11890147 TMC3 transmembrane channel like 3 gene DOID:9256 colorectal cancer ISO RGD:1352795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11890173 CCAR2 cell cycle and apoptosis regulator 2 gene DOID:630 genetic disease ISO RGD:1605357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11890173 CCAR2 cell cycle and apoptosis regulator 2 gene DOID:9002498 Wallerian Degeneration ISO RGD:1605357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24252177 11890173 CCAR2 cell cycle and apoptosis regulator 2 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1605357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 11890198 GRM7 glutamate metabotropic receptor 7 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1603058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138692 11890198 GRM7 glutamate metabotropic receptor 7 gene DOID:1826 epilepsy ISO RGD:1603058 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11890198 GRM7 glutamate metabotropic receptor 7 gene DOID:303 substance-related disorder ISO RGD:1603058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11890198 GRM7 glutamate metabotropic receptor 7 gene DOID:630 genetic disease ISO RGD:1603058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11890198 GRM7 glutamate metabotropic receptor 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11890198 GRM7 glutamate metabotropic receptor 7 gene DOID:9005055 NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES ISO RGD:1603058 D RGD:7240710 20201111 OMIM 11890198 GRM7 glutamate metabotropic receptor 7 gene DOID:9005055 NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES ISO RGD:1603058 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities PMID:25741868|PMID:27435318|PMID:28097321|PMID:28492532|PMID:32286009 11890198 GRM7 glutamate metabotropic receptor 7 gene DOID:9008086 Developmental Disabilities ISO RGD:1603058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:27435318|PMID:32286009 11890198 GRM7 glutamate metabotropic receptor 7 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1603058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 11890211 ARTN artemin gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1347630 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:23252400|PMID:28492532 11890211 ARTN artemin gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1347630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11890211 ARTN artemin gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1347630 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:23252400|PMID:28492532 11890211 ARTN artemin gene DOID:12689 acoustic neuroma ISO RGD:1347630 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral nerve: PMID:19937367|REF_RGD_ID:8655552 11890211 ARTN artemin gene DOID:1793 pancreatic cancer ISO RGD:1347630 D RGD:9068941 20200609 RGD PMID:20395845|REF_RGD_ID:2325815 11890211 ARTN artemin gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1347630 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:19304517|REF_RGD_ID:2325817 11890211 ARTN artemin gene DOID:3310 atopic dermatitis ISO RGD:1347630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 11890211 ARTN artemin gene DOID:574 peripheral nervous system disease ISO RGD:621427 D RGD:9068941 20200609 RGD PMID:18344995|PMID:20302919|REF_RGD_ID:2325819|REF_RGD_ID:2325821 11890211 ARTN artemin gene DOID:630 genetic disease ISO RGD:1347630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11890211 ARTN artemin gene DOID:9006202 Pruritus ISO RGD:1347630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 11890211 ARTN artemin gene DOID:9006205 Animal Disease Models ISO RGD:1347630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 11890211 ARTN artemin gene DOID:9008939 Breast Neoplasms ISO RGD:1347630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20305694 11890221 PSMB1 proteasome 20S subunit beta 1 gene DOID:13938 amenorrhea ISO RGD:733154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11890221 PSMB1 proteasome 20S subunit beta 1 gene DOID:574 peripheral nervous system disease ISO RGD:733154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21228734 11890221 PSMB1 proteasome 20S subunit beta 1 gene DOID:630 genetic disease ISO RGD:733154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11890221 PSMB1 proteasome 20S subunit beta 1 gene DOID:8398 osteoarthritis ISO RGD:733154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11890221 PSMB1 proteasome 20S subunit beta 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:733154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 11890221 PSMB1 proteasome 20S subunit beta 1 gene DOID:9002730 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE ISO RGD:733154 D RGD:7240710 20221221 OMIM 11890221 PSMB1 proteasome 20S subunit beta 1 gene DOID:9002730 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE ISO RGD:733154 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and absent language PMID:32129449 11890231 TRIM39 tripartite motif containing 39 gene DOID:11372 megacolon ISO RGD:1345253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11890231 TRIM39 tripartite motif containing 39 gene DOID:630 genetic disease ISO RGD:1345253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11890260 RNF212 ring finger protein 212 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1604957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 11890260 RNF212 ring finger protein 212 gene DOID:0112351 spermatogenic failure 62 ISO RGD:1604957 D RGD:7240710 20211222 OMIM 11890260 RNF212 ring finger protein 212 gene DOID:0112351 spermatogenic failure 62 ISO RGD:1604957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 62 PMID:31125047 11890260 RNF212 ring finger protein 212 gene DOID:14250 Down syndrome ISO RGD:1604957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complete trisomy 21 syndrome 11890260 RNF212 ring finger protein 212 gene DOID:1856 cherubism ISO RGD:1604957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11890260 RNF212 ring finger protein 212 gene DOID:3007 breast ductal carcinoma ISO RGD:1604957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 11890260 RNF212 ring finger protein 212 gene DOID:630 genetic disease ISO RGD:1604957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11890318 VKORC1L1 vitamin K epoxide reductase complex subunit 1 like 1 gene DOID:10283 prostate cancer ISO RGD:1353419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11890318 VKORC1L1 vitamin K epoxide reductase complex subunit 1 like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11890318 VKORC1L1 vitamin K epoxide reductase complex subunit 1 like 1 gene DOID:630 genetic disease ISO RGD:1353419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11890325 GATM glycine amidinotransferase gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:731936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lennox-Gastaut syndrome 11890325 GATM glycine amidinotransferase gene DOID:0050712 AGAT deficiency ISO RGD:731936 D RGD:7240710 20180130 OMIM 11890325 GATM glycine amidinotransferase gene DOID:0050712 AGAT deficiency ISO RGD:731936 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:10762163|PMID:11555793|PMID:12468279|PMID:17576681|PMID:20301745|PMID:20625172|PMID:20682460|PMID:22386973|PMID:23660394|PMID:23770102|PMID:24415674|PMID:25741868|PMID:26003046|PMID:26467025|PMID:26490222|PMID:27233232|PMID:27577545|PMID:28492532|PMID:29654216|PMID:9536098 11890325 GATM glycine amidinotransferase gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:731936 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:25741868|PMID:29654216 11890325 GATM glycine amidinotransferase gene DOID:0080757 Fanconi renotubular syndrome 1 ISO RGD:731936 D RGD:7240710 20200701 OMIM 11890325 GATM glycine amidinotransferase gene DOID:0080757 Fanconi renotubular syndrome 1 ISO RGD:731936 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi renotubular syndrome 1 PMID:25741868|PMID:26467025|PMID:28492532|PMID:29654216|PMID:35738466 11890325 GATM glycine amidinotransferase gene DOID:1059 intellectual disability ISO RGD:731936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24415674|PMID:25741868|PMID:26003046|PMID:26467025|PMID:27233232|PMID:28492532 11890325 GATM glycine amidinotransferase gene DOID:1062 Fanconi syndrome ISO RGD:731936 D RGD:9068941 20221208 CTD CTD Direct Evidence: marker/mechanism 11890325 GATM glycine amidinotransferase gene DOID:1826 epilepsy ISO RGD:731936 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 11890325 GATM glycine amidinotransferase gene DOID:2717 Bloom syndrome ISO RGD:731936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11890325 GATM glycine amidinotransferase gene DOID:3021 acute kidney failure ISO RGD:71090 D RGD:9068941 20200609 RGD protein:decreased activity:kidney (rat) PMID:2752493|REF_RGD_ID:1599823 11890325 GATM glycine amidinotransferase gene DOID:305 carcinoma ISO RGD:731936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11890325 GATM glycine amidinotransferase gene DOID:557 kidney disease ISO RGD:731936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22061828 11890325 GATM glycine amidinotransferase gene DOID:6000 congestive heart failure ISO RGD:731936 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:16820567|PMID:36071497 11890325 GATM glycine amidinotransferase gene DOID:630 genetic disease ISO RGD:731936 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:24415674|PMID:25741868|PMID:26003046|PMID:26467025|PMID:27233232|PMID:27577545|PMID:28492532|PMID:9536098 11890325 GATM glycine amidinotransferase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11890325 GATM glycine amidinotransferase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11890325 GATM glycine amidinotransferase gene DOID:9005749 Necrosis ISO RGD:731936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22061828 11890325 GATM glycine amidinotransferase gene DOID:9007102 Myocardial Ischemia ISO RGD:731936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11890325 GATM glycine amidinotransferase gene DOID:9256 colorectal cancer ISO RGD:731936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11890338 ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1313339 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11890338 ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1313339 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11890338 ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene DOID:1059 intellectual disability ISO RGD:1313339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11890338 ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1313339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11890338 ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1313339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11890338 ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1313339 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11890338 ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1313339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 11890338 ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene DOID:630 genetic disease ISO RGD:1313339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11890364 EFHC2 EF-hand domain containing 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11890364 EFHC2 EF-hand domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1348000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Mental retardation, X-linked PMID:17221867|PMID:21681106|PMID:25741868|PMID:30208311 11890364 EFHC2 EF-hand domain containing 2 gene DOID:630 genetic disease ISO RGD:1348000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11890364 EFHC2 EF-hand domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11890364 EFHC2 EF-hand domain containing 2 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1348000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mental retardation, X-linked PMID:17221867|PMID:25741868 11890364 EFHC2 EF-hand domain containing 2 gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1348000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:22197486|PMID:23076834|PMID:23354975|PMID:23913813|PMID:25972376|PMID:28492532 11890383 FZD7 frizzled class receptor 7 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1314691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11890383 FZD7 frizzled class receptor 7 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1314691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11890383 FZD7 frizzled class receptor 7 gene DOID:14557 primary pulmonary hypertension ISO RGD:1314691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:16429395|PMID:16429403|PMID:27453251|PMID:28492532|PMID:29743074 11890383 FZD7 frizzled class receptor 7 gene DOID:2154 nephroblastoma ISO RGD:1314691 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:12057921|REF_RGD_ID:2316755 11890383 FZD7 frizzled class receptor 7 gene DOID:630 genetic disease ISO RGD:1314691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11890383 FZD7 frizzled class receptor 7 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1314691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 11890383 FZD7 frizzled class receptor 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11890383 FZD7 frizzled class receptor 7 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1314691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11890388 TRAPPC13 trafficking protein particle complex subunit 13 gene DOID:630 genetic disease ISO RGD:1605046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11890388 TRAPPC13 trafficking protein particle complex subunit 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11890419 PCOLCE procollagen C-endopeptidase enhancer gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11890419 PCOLCE procollagen C-endopeptidase enhancer gene DOID:5082 liver cirrhosis ISO RGD:733466 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 11890419 PCOLCE procollagen C-endopeptidase enhancer gene DOID:630 genetic disease ISO RGD:733466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11890419 PCOLCE procollagen C-endopeptidase enhancer gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733466 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11890432 CUTA cutA divalent cation tolerance homolog gene DOID:0050553 JMP syndrome ISO RGD:1346513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11890432 CUTA cutA divalent cation tolerance homolog gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1346513 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 11890432 CUTA cutA divalent cation tolerance homolog gene DOID:630 genetic disease ISO RGD:1346513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11890450 LOC100986203 histone-lysine N-methyltransferase SETMAR gene DOID:0050965 spinocerebellar ataxia type 15 ISO RGD:1348585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 15/16 PMID:17932120|PMID:20669319|PMID:21681106 11890450 LOC100986203 histone-lysine N-methyltransferase SETMAR gene DOID:630 genetic disease ISO RGD:1348585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11890450 LOC100986203 histone-lysine N-methyltransferase SETMAR gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11890468 CRYBG2 crystallin beta-gamma domain containing 2 gene DOID:0080600 COVID-19 ISO RGD:1318501 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11890468 CRYBG2 crystallin beta-gamma domain containing 2 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1318501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 11890468 CRYBG2 crystallin beta-gamma domain containing 2 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1318501 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 11890468 CRYBG2 crystallin beta-gamma domain containing 2 gene DOID:630 genetic disease ISO RGD:1318501 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11890491 POLB DNA polymerase beta gene DOID:0090039 torsion dystonia 6 ISO RGD:736608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 11890491 POLB DNA polymerase beta gene DOID:0111959 immunodeficiency 15B ISO RGD:736608 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 11890491 POLB DNA polymerase beta gene DOID:11054 urinary bladder cancer ISO RGD:736608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8631603 11890491 POLB DNA polymerase beta gene DOID:1793 pancreatic cancer disease_progression ISO RGD:736608 D RGD:9068941 20200609 RGD DNA:polymorphisms: :165A>G, 2133T>C (human) PMID:17230526|REF_RGD_ID:2317132 11890491 POLB DNA polymerase beta gene DOID:630 genetic disease ISO RGD:736608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11890491 POLB DNA polymerase beta gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:736608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18006695 11890491 POLB DNA polymerase beta gene DOID:9002928 Colonic Neoplasms ISO RGD:736608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25030372 11890491 POLB DNA polymerase beta gene DOID:9004009 Reperfusion Injury ISO RGD:3363 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:17412650|REF_RGD_ID:2302580 11890491 POLB DNA polymerase beta gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:736608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 11890491 POLB DNA polymerase beta gene DOID:9074 systemic lupus erythematosus ISO RGD:736609 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 11890513 ZSWIM4 zinc finger SWIM-type containing 4 gene DOID:630 genetic disease ISO RGD:1345804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11890537 FOLR2 folate receptor beta gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1318329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:19732866|PMID:22586289|PMID:28492532 11890537 FOLR2 folate receptor beta gene DOID:0060041 autism spectrum disorder ISO RGD:1318329 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11890537 FOLR2 folate receptor beta gene DOID:0080074 neural tube defect ISO RGD:1318329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11749123 11890537 FOLR2 folate receptor beta gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1318329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30794826 11890537 FOLR2 folate receptor beta gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1318329 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11890537 FOLR2 folate receptor beta gene DOID:1059 intellectual disability ISO RGD:1318329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11890537 FOLR2 folate receptor beta gene DOID:630 genetic disease ISO RGD:1318329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11890537 FOLR2 folate receptor beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11890551 C16H16orf95 chromosome 16 C16orf95 homolog gene DOID:13042 persistent fetal circulation syndrome ISO RGD:5132711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 11890551 C16H16orf95 chromosome 16 C16orf95 homolog gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:5132711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 11890627 SLC47A1 solute carrier family 47 member 1 gene DOID:0050777 Joubert syndrome ISO RGD:1605371 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11890627 SLC47A1 solute carrier family 47 member 1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1605371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 11890627 SLC47A1 solute carrier family 47 member 1 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1605371 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 11890627 SLC47A1 solute carrier family 47 member 1 gene DOID:12849 autistic disorder ISO RGD:1605371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11890627 SLC47A1 solute carrier family 47 member 1 gene DOID:557 kidney disease ISO RGD:1605371 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:24001450|PMID:35710981 11890627 SLC47A1 solute carrier family 47 member 1 gene DOID:630 genetic disease ISO RGD:1605371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11890627 SLC47A1 solute carrier family 47 member 1 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1605371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 11890654 TMEM200A transmembrane protein 200A gene DOID:630 genetic disease ISO RGD:1345256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11890667 HAPLN3 hyaluronan and proteoglycan link protein 3 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1317673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 11890667 HAPLN3 hyaluronan and proteoglycan link protein 3 gene DOID:2717 Bloom syndrome ISO RGD:1317673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11890667 HAPLN3 hyaluronan and proteoglycan link protein 3 gene DOID:630 genetic disease ISO RGD:1317673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11890667 HAPLN3 hyaluronan and proteoglycan link protein 3 gene DOID:9256 colorectal cancer ISO RGD:1317673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11890682 L1CAM L1 cell adhesion molecule gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1352608 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11890682 L1CAM L1 cell adhesion molecule gene DOID:0050476 Barth syndrome ISO RGD:1352608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11890682 L1CAM L1 cell adhesion molecule gene DOID:0050753 cerebellar ataxia ISO RGD:1352608 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 11890682 L1CAM L1 cell adhesion molecule gene DOID:0050771 pheochromocytoma ISO RGD:1352608 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:adrenal medulla: PMID:20937862|REF_RGD_ID:11570409 11890682 L1CAM L1 cell adhesion molecule gene DOID:0050800 creatine transporter deficiency ISO RGD:1352608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 11890682 L1CAM L1 cell adhesion molecule gene DOID:0060046 aphasia ISO RGD:1352608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7920660 11890682 L1CAM L1 cell adhesion molecule gene DOID:0060246 MASA syndrome ISO RGD:1352608 D RGD:7240710 20180130 OMIM 11890682 L1CAM L1 cell adhesion molecule gene DOID:0060246 MASA syndrome ISO RGD:1352608 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: L1 syndrome | ClinVar Annotator: match by term: MASA syndrome | ClinVar Annotator: match by term: X-linked hydrocephalus syndrome PMID:10469653|PMID:10767310|PMID:10797421|PMID:10908608|PMID:11438988|PMID:11772994|PMID:11857550|PMID:12442287|PMID:12725590|PMID:1303258|PMID:13889294|PMID:15108295|PMID:15148591|PMID:15555929|PMID:16199547|PMID:16650080|PMID:17576681|PMID:18136715|PMID:1870106|PMID:19617634|PMID:19641926|PMID:19846429|PMID:19953645|PMID:20447653|PMID:20621658|PMID:21271669|PMID:21688291|PMID:22973895|PMID:23820807|PMID:24155914|PMID:25644381|PMID:25666757|PMID:25741868|PMID:26467025|PMID:26891472|PMID:28492532|PMID:30249681|PMID:30712878|PMID:31069529|PMID:31319225|PMID:31474318|PMID:31504653|PMID:31680349|PMID:32416898|PMID:32488064|PMID:3460961|PMID:7493978|PMID:7562969|PMID:7762552|PMID:7881431|PMID:7920659|PMID:7920660|PMID:8062435|PMID:8401576|PMID:8401593|PMID:8826452|PMID:8929944|PMID:9195224|PMID:9279760|PMID:9300653|PMID:9521424|PMID:9536098|PMID:9610803|PMID:9643285|PMID:9744477 11890682 L1CAM L1 cell adhesion molecule gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 11890682 L1CAM L1 cell adhesion molecule gene DOID:0070338 cerebellar hypoplasia ISO RGD:1352608 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:16650080|PMID:25741868|PMID:31474318|PMID:7562969|PMID:8929944 11890682 L1CAM L1 cell adhesion molecule gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1352608 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 11890682 L1CAM L1 cell adhesion molecule gene DOID:0112003 immunodeficiency 33 ISO RGD:1352608 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11890682 L1CAM L1 cell adhesion molecule gene DOID:10487 Hirschsprung's disease ISO RGD:1352608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon PMID:28492532 11890682 L1CAM L1 cell adhesion molecule gene DOID:10588 adrenoleukodystrophy ISO RGD:1352608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11890682 L1CAM L1 cell adhesion molecule gene DOID:1059 intellectual disability ISO RGD:1352608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11890682 L1CAM L1 cell adhesion molecule gene DOID:10652 Alzheimer's disease ISO RGD:1352608 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:16298234|REF_RGD_ID:6483456 11890682 L1CAM L1 cell adhesion molecule gene DOID:10908 hydrocephalus ISO RGD:1352608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe hydrocephalus | ClinVar Annotator: match by term: X-linked hydrocephalus PMID:16650080|PMID:19846429|PMID:25741868|PMID:28492532|PMID:31069529|PMID:31474318|PMID:31680349|PMID:7562969|PMID:7881431|PMID:8929944|PMID:9300653 11890682 L1CAM L1 cell adhesion molecule gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1352608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11890682 L1CAM L1 cell adhesion molecule gene DOID:12849 autistic disorder ISO RGD:1352608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11890682 L1CAM L1 cell adhesion molecule gene DOID:12858 Huntington's disease ISO RGD:10850 D RGD:9068941 20200609 RGD PMID:17093074|REF_RGD_ID:6483035 11890682 L1CAM L1 cell adhesion molecule gene DOID:13628 favism ISO RGD:1352608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11890682 L1CAM L1 cell adhesion molecule gene DOID:14330 Parkinson's disease ISO RGD:10850 D RGD:9068941 20200609 RGD PMID:19995872|REF_RGD_ID:6483033 11890682 L1CAM L1 cell adhesion molecule gene DOID:1459 hypothyroidism ISO RGD:619777 D RGD:9068941 20200609 RGD mRNA,protein:increased expression: cerebral cortex: PMID:11085884|REF_RGD_ID:11570514 11890682 L1CAM L1 cell adhesion molecule gene DOID:1596 depressive disorder ISO RGD:619777 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus (rat) PMID:20018220|REF_RGD_ID:6483073 11890682 L1CAM L1 cell adhesion molecule gene DOID:1793 pancreatic cancer treatment ISO RGD:1352608 D RGD:9068941 20200609 RGD PMID:22095073|REF_RGD_ID:11570404 11890682 L1CAM L1 cell adhesion molecule gene DOID:2030 anxiety disorder ISO RGD:619777 D RGD:9068941 20200609 RGD protein:increased expression: brain, multiple (rat) PMID:19746433|REF_RGD_ID:6483075 11890682 L1CAM L1 cell adhesion molecule gene DOID:2476 hereditary spastic paraplegia ISO RGD:1352608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:10797421|PMID:11438988|PMID:11772994|PMID:16760466|PMID:18414213|PMID:19846429|PMID:22222883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30487145|PMID:9195224|PMID:9268105 11890682 L1CAM L1 cell adhesion molecule gene DOID:2729 dyskeratosis congenita ISO RGD:1352608 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11890682 L1CAM L1 cell adhesion molecule gene DOID:3068 glioblastoma ISO RGD:1352608 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain, temporal lobe (human) PMID:20419098|REF_RGD_ID:6483067 11890682 L1CAM L1 cell adhesion molecule gene DOID:3312 bipolar disorder ISO RGD:1352608 D RGD:9068941 20200609 RGD associated with Depressive Disorder; mRNA:increased expression:blood (human) PMID:18430502|REF_RGD_ID:6483084 11890682 L1CAM L1 cell adhesion molecule gene DOID:3587 pancreatic ductal carcinoma severity ISO RGD:1352608 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:20162456|REF_RGD_ID:6483447 11890682 L1CAM L1 cell adhesion molecule gene DOID:363 uterine cancer severity ISO RGD:1352608 D RGD:9068941 20200609 RGD protein:increased expression:uterus, serum (human) PMID:13678974|REF_RGD_ID:6483445 11890682 L1CAM L1 cell adhesion molecule gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1352608 D RGD:9068941 20200609 RGD PMID:22307136|REF_RGD_ID:11570503 11890682 L1CAM L1 cell adhesion molecule gene DOID:4001 ovarian carcinoma ISO RGD:1352608 D RGD:9068941 20200609 RGD human cells, mouse model PMID:16424028|REF_RGD_ID:6483449 11890682 L1CAM L1 cell adhesion molecule gene DOID:4001 ovarian carcinoma severity ISO RGD:1352608 D RGD:9068941 20200609 RGD protein:increased expression:ovary, serum (human) PMID:13678974|REF_RGD_ID:6483445 11890682 L1CAM L1 cell adhesion molecule gene DOID:4450 renal cell carcinoma ISO RGD:1352608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21097529 11890682 L1CAM L1 cell adhesion molecule gene DOID:5419 schizophrenia susceptibility ISO RGD:1352608 D RGD:9068941 20200609 RGD associated with male;DNA:mutation:intron:13504 C > T(human) PMID:11425011|REF_RGD_ID:11570408 11890682 L1CAM L1 cell adhesion molecule gene DOID:607 paraplegia ISO RGD:1352608 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10469653|PMID:10480214|PMID:10632110|PMID:10767310|PMID:10797421|PMID:11438988|PMID:11748843|PMID:11772994|PMID:11968085|PMID:12442287|PMID:12514225|PMID:12725590|PMID:15108295|PMID:15148591|PMID:15555929|PMID:15904436|PMID:16199547|PMID:16427346|PMID:16601897|PMID:16684786|PMID:16760466|PMID:17576681|PMID:18414213|PMID:19396829|PMID:19617634|PMID:19641926|PMID:19846429|PMID:19953645|PMID:20447653|PMID:20730588|PMID:21688291|PMID:22222883|PMID:22281021|PMID:22382802|PMID:22973895|PMID:23184456|PMID:23409742|PMID:23660394|PMID:23820807|PMID:24155914|PMID:24365856|PMID:24962355|PMID:25666757|PMID:25741868|PMID:25948108|PMID:26467025|PMID:26471271|PMID:26891472|PMID:28492532|PMID:28781826|PMID:29334594|PMID:29706646|PMID:29960101|PMID:30365056|PMID:30487145|PMID:30712878|PMID:31504653|PMID:32416898|PMID:33196764|PMID:7562969|PMID:7762552|PMID:7920659|PMID:8062435|PMID:8069317|PMID:8401576|PMID:8826452|PMID:9195224|PMID:9268105|PMID:9300653|PMID:9384614|PMID:9521424|PMID:9536098|PMID:9610803|PMID:9744477 11890682 L1CAM L1 cell adhesion molecule gene DOID:630 genetic disease ISO RGD:1352608 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10469653|PMID:10797421|PMID:10908608|PMID:11438988|PMID:11772994|PMID:13889294|PMID:15555929|PMID:16760466|PMID:17328266|PMID:18136715|PMID:18414213|PMID:19617634|PMID:19846429|PMID:20621658|PMID:21688291|PMID:22222883|PMID:22973895|PMID:24155914|PMID:25666757|PMID:25741868|PMID:26467025|PMID:26891472|PMID:28492532|PMID:30487145|PMID:31680349|PMID:32416898|PMID:7762552|PMID:7881431|PMID:7920659|PMID:9195224|PMID:9268105|PMID:9300653|PMID:9721721 11890682 L1CAM L1 cell adhesion molecule gene DOID:9000115 Posthemorrhagic Hydrocephalus ISO RGD:1352608 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:22186713|REF_RGD_ID:6483013 11890682 L1CAM L1 cell adhesion molecule gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1352608 D RGD:9068941 20200609 RGD associated with Lung Neoplasms; PMID:22307136|REF_RGD_ID:11570503 11890682 L1CAM L1 cell adhesion molecule gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1352608 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms; PMID:22095073|REF_RGD_ID:11570404 11890682 L1CAM L1 cell adhesion molecule gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:10850 D RGD:9068941 20200609 RGD PMID:21376041|REF_RGD_ID:6483044 11890682 L1CAM L1 cell adhesion molecule gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:619777 D RGD:9068941 20200609 RGD PMID:17640175|REF_RGD_ID:6483092 11890682 L1CAM L1 cell adhesion molecule gene DOID:9001553 Spinal Cord Compression ISO RGD:10850 D RGD:9068941 20200609 RGD PMID:21671795|REF_RGD_ID:6483029 11890682 L1CAM L1 cell adhesion molecule gene DOID:9002720 Splenomegaly ISO RGD:1352608 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11890682 L1CAM L1 cell adhesion molecule gene DOID:9004795 Congenital Hand Deformities ISO RGD:1352608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7920660 11890682 L1CAM L1 cell adhesion molecule gene DOID:9005824 X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction ISO RGD:1352608 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction PMID:12650797|PMID:15368500 11890682 L1CAM L1 cell adhesion molecule gene DOID:9006167 Partial Agenesis of Corpus Callosum, X-Linked ISO RGD:1352608 D RGD:7240710 20180130 OMIM 11890682 L1CAM L1 cell adhesion molecule gene DOID:9006167 Partial Agenesis of Corpus Callosum, X-Linked ISO RGD:1352608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Corpus callosum, partial agenesis of, X-linked PMID:10469653|PMID:11772994|PMID:15368500|PMID:15555929|PMID:16650080|PMID:19617634|PMID:19846429|PMID:22973895|PMID:24155914|PMID:25666757|PMID:25741868|PMID:28492532|PMID:29706646|PMID:31069529|PMID:31474318|PMID:7562969|PMID:7762552|PMID:7920659|PMID:8929944|PMID:9300653 11890682 L1CAM L1 cell adhesion molecule gene DOID:9006230 Neurologic Gait Disorders ISO RGD:1352608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7920660 11890682 L1CAM L1 cell adhesion molecule gene DOID:9006382 X-Linked Hydrocephalus ISO RGD:1352608 D RGD:7240710 20180130 OMIM 11890682 L1CAM L1 cell adhesion molecule gene DOID:9006382 X-Linked Hydrocephalus ISO RGD:1352608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aqueductal stenosis, X-linked | ClinVar Annotator: match by term: HYDROCEPHALUS, CONGENITAL, X-LINKED | ClinVar Annotator: match by term: Hydrocephalus due to aqueductal stenosis PMID:10469653|PMID:10767310|PMID:11772994|PMID:16650080|PMID:18414213|PMID:19846429|PMID:25741868|PMID:28492532|PMID:31069529|PMID:31474318|PMID:31504653|PMID:32416898|PMID:7562969|PMID:7920659|PMID:8929944 11890682 L1CAM L1 cell adhesion molecule gene DOID:9008086 Developmental Disabilities ISO RGD:1352608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11890682 L1CAM L1 cell adhesion molecule gene DOID:9008732 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 ISO RGD:1352608 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23 PMID:25741868 11890682 L1CAM L1 cell adhesion molecule gene DOID:9256 colorectal cancer severity ISO RGD:1352608 D RGD:9068941 20200609 RGD protein:increased expression:colon (human) PMID:17873897|REF_RGD_ID:6483011 11890724 C22H22orf31 chromosome 22 C22orf31 homolog gene DOID:0111252 neurofibromatosis 2 ISO RGD:1604374 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 11890724 C22H22orf31 chromosome 22 C22orf31 homolog gene DOID:0111650 ectodermal dysplasia 13 ISO RGD:1604374 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 13, hair/tooth type PMID:25741868|PMID:28492532 11890724 C22H22orf31 chromosome 22 C22orf31 homolog gene DOID:1059 intellectual disability ISO RGD:1604374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11890724 C22H22orf31 chromosome 22 C22orf31 homolog gene DOID:630 genetic disease ISO RGD:1604374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11890724 C22H22orf31 chromosome 22 C22orf31 homolog gene DOID:9008952 Breast Cancer, Familial ISO RGD:1604374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 11890731 CDCA7L cell division cycle associated 7 like gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:1602109 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 11890731 CDCA7L cell division cycle associated 7 like gene DOID:0110605 primary ciliary dyskinesia 7 ISO RGD:1602109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 7 PMID:18022865|PMID:22184204|PMID:24033266|PMID:24450482|PMID:25741868|PMID:28492532|PMID:29997923|PMID:32502479|PMID:32622824 11890731 CDCA7L cell division cycle associated 7 like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11890731 CDCA7L cell division cycle associated 7 like gene DOID:630 genetic disease ISO RGD:1602109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11890731 CDCA7L cell division cycle associated 7 like gene DOID:9562 primary ciliary dyskinesia ISO RGD:1602109 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:24033266|PMID:24450482|PMID:25741868|PMID:26139845|PMID:28492532|PMID:29997923|PMID:32502479|PMID:32622824 11890752 CLHC1 clathrin heavy chain linker domain containing 1 gene DOID:630 genetic disease ISO RGD:1606727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:0060074 ductal carcinoma in situ treatment ISO RGD:2218 D RGD:9068941 20210611 RGD PMID:25861310|REF_RGD_ID:127284854 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:0080199 colorectal carcinoma ISO RGD:69132 D RGD:9068941 20210521 RGD PMID:11497291|REF_RGD_ID:126925969 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:0080202 adenoid cystic carcinoma ISO RGD:69132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:0080213 punctate palmoplantar keratoderma type II ISO RGD:69132 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Punctate palmoplantar keratoderma type 2 PMID:10090881|PMID:10447273|PMID:10464624|PMID:10739756|PMID:10788334|PMID:10885601|PMID:11466700|PMID:11597388|PMID:11896095|PMID:12125210|PMID:12402332|PMID:12752644|PMID:12771565|PMID:14576434|PMID:14986830|PMID:15024741|PMID:15133502|PMID:15951956|PMID:15994883|PMID:16030426|PMID:16541315|PMID:17307836|PMID:17591843|PMID:18694767|PMID:18762988|PMID:18940477|PMID:19208665|PMID:19359128|PMID:20104584|PMID:20301425|PMID:20345474|PMID:20507347|PMID:20569256|PMID:20730485|PMID:21119707|PMID:21324516|PMID:21503673|PMID:21834074|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22185575|PMID:22430266|PMID:22535016|PMID:22666503|PMID:23199084|PMID:23232912|PMID:23469205|PMID:23867111|PMID:23954390|PMID:24033266|PMID:24319668|PMID:24504028|PMID:24737347|PMID:24884479|PMID:25741868|PMID:25980754|PMID:26295337|PMID:26440929|PMID:26467025|PMID:26556299|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26718727|PMID:27062684|PMID:27425403|PMID:27433846|PMID:27741520|PMID:27914478|PMID:27989354|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28285342|PMID:28324225|PMID:28423363|PMID:28492532|PMID:28503720|PMID:29161300|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29433453|PMID:29478780|PMID:29492181|PMID:29625052|PMID:29790872|PMID:29907814|PMID:29961768|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30322717|PMID:30333958|PMID:30489631|PMID:30606148|PMID:30613976|PMID:30676620|PMID:31065452|PMID:31090900|PMID:31159747|PMID:31360904|PMID:31447099|PMID:31454914|PMID:31528241|PMID:31851867|PMID:32039725|PMID:32058061|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32719484|PMID:32854451|PMID:32885271|PMID:33449224|PMID:33471991|PMID:33484353|PMID:7894492|PMID:8531967|PMID:8644703|PMID:8833256|PMID:8841191|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9634504 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:11157798|PMID:11802209|PMID:12496476|PMID:15235020|PMID:17308087|PMID:17574969|PMID:17924331|PMID:19200354|PMID:19563646|PMID:20516115|PMID:21324516|PMID:21356067|PMID:21473589|PMID:21702907|PMID:21965345|PMID:21990134|PMID:22889855|PMID:23867111|PMID:24055113|PMID:24569164|PMID:24845084|PMID:25472942|PMID:25741868|PMID:26467025|PMID:26689913|PMID:26884819|PMID:27272900|PMID:28265380|PMID:28324225|PMID:28477318|PMID:28492532|PMID:28724667|PMID:28831036|PMID:29161300|PMID:29297111|PMID:29712865|PMID:30103829|PMID:30287823|PMID:30825404|PMID:31454914|PMID:31472684|PMID:31825140|PMID:32338768|PMID:33098347|PMID:33468216|PMID:33471991 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:0111685 hereditary mixed polyposis syndrome 1 ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:10283 prostate cancer ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:12491487|PMID:15235020|PMID:15447980|PMID:16267036|PMID:17924331|PMID:21990134|PMID:24055113|PMID:24728327|PMID:24729269|PMID:25637381|PMID:25741868|PMID:28492532 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:10283 prostate cancer no_association ISO RGD:69132 D RGD:9068941 20200609 RGD PMID:10398279|REF_RGD_ID:734657 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:10283 prostate cancer severity ISO RGD:69132 D RGD:9068941 20200609 RGD DNA:deletions: :185_186del,1294_1333del,3875_3878del PMID:18182994|REF_RGD_ID:2289042 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:10534 stomach cancer ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10227398|PMID:10389907|PMID:10486320|PMID:10634513|PMID:10644434|PMID:10804288|PMID:10923033|PMID:11149425|PMID:11157798|PMID:11410501|PMID:11462239|PMID:11504767|PMID:11506493|PMID:11595708|PMID:11597388|PMID:11739404|PMID:11802208|PMID:11802209|PMID:11920621|PMID:12360400|PMID:12400015|PMID:12402341|PMID:12491487|PMID:12601471|PMID:12624724|PMID:12655560|PMID:12732733|PMID:12815604|PMID:12827452|PMID:12955716|PMID:14531499|PMID:14534301|PMID:15026808|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15235020|PMID:15290653|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15865297|PMID:16111488|PMID:16140926|PMID:16199547|PMID:16267036|PMID:16287141|PMID:16489001|PMID:16528604|PMID:16528612|PMID:16644204|PMID:16683254|PMID:16998791|PMID:17221156|PMID:17305420|PMID:17308087|PMID:17591843|PMID:17851763|PMID:17922413|PMID:18036263|PMID:18446624|PMID:18465347|PMID:18528753|PMID:18712473|PMID:19016756|PMID:19200354|PMID:19287957|PMID:19370767|PMID:19563646|PMID:19949876|PMID:20103620|PMID:20104584|PMID:20378548|PMID:20455026|PMID:20516115|PMID:20727672|PMID:20960228|PMID:21042765|PMID:21213370|PMID:21324516|PMID:21473589|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21922593|PMID:21946536|PMID:21989927|PMID:21990134|PMID:22006311|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22277901|PMID:22505045|PMID:22711857|PMID:22752604|PMID:22776961|PMID:22798144|PMID:22843421|PMID:22889855|PMID:23161852|PMID:23175448|PMID:23364291|PMID:23469205|PMID:23479189|PMID:23536787|PMID:23683081|PMID:23704984|PMID:23842040|PMID:23867111|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24218521|PMID:24249303|PMID:24312913|PMID:24504028|PMID:24516540|PMID:24569164|PMID:24667779|PMID:24719479|PMID:24728189|PMID:24884479|PMID:25070656|PMID:25085752|PMID:25400221|PMID:25452441|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25971625|PMID:26028024|PMID:26083025|PMID:26153499|PMID:26183948|PMID:26187060|PMID:26246475|PMID:26295337|PMID:26306726|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26848529|PMID:27008870|PMID:27062684|PMID:27257965|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27553291|PMID:27741520|PMID:27767231|PMID:27831900|PMID:28111427|PMID:28152038|PMID:28176296|PMID:28205045|PMID:28283652|PMID:28294317|PMID:28324225|PMID:28398198|PMID:28490613|PMID:28492532|PMID:28525389|PMID:28724667|PMID:28781887|PMID:28802053|PMID:28831036|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29280214|PMID:29310832|PMID:29339979|PMID:29348823|PMID:29360550|PMID:29409476|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29625052|PMID:29673794|PMID:29752822|PMID:29907814|PMID:29922827|PMID:30078507|PMID:30103829|PMID:30128899|PMID:30159786|PMID:30199306|PMID:30209399|PMID:30257991|PMID:30287823|PMID:30309222|PMID:30333958|PMID:30374176|PMID:30458859|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30765603|PMID:30787465|PMID:30875412|PMID:30962250|PMID:30972954|PMID:31112363|PMID:31131967|PMID:31159747|PMID:31209999|PMID:31263571|PMID:31343793|PMID:31347298|PMID:31372034|PMID:31447099|PMID:31528241|PMID:31780705|PMID:31825140|PMID:32072338|PMID:32123317|PMID:32295079|PMID:32341426|PMID:32486089|PMID:32546644|PMID:32710294|PMID:32719484|PMID:32832836|PMID:32906206|PMID:33037428|PMID:33067557|PMID:33087888|PMID:33087929|PMID:33151324|PMID:33309985|PMID:33428613|PMID:33442023|PMID:33471991|PMID:33726785|PMID:35377489|PMID:36988593|PMID:7627958|PMID:7894493|PMID:8554067|PMID:8723683|PMID:8808710|PMID:8875986|PMID:9042907|PMID:9150149|PMID:9150151|PMID:9150154|PMID:9197534|PMID:9760198 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:10534 stomach cancer susceptibility ISO RGD:69132 D RGD:9068941 20210521 RGD DNA:SNP: :rs799917 (human) PMID:25266802|REF_RGD_ID:126925956 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:10534 stomach cancer treatment ISO RGD:69132 D RGD:9068941 20210521 RGD PMID:23633032|REF_RGD_ID:126925962 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:10763 hypertension treatment ISO RGD:69132 D RGD:9068941 20210611 RGD PMID:24239235|REF_RGD_ID:8693672 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:11054 urinary bladder cancer ISO RGD:69132 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:18094410|REF_RGD_ID:2293014 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1324 lung cancer ISO RGD:69132 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:10486320|PMID:11739404|PMID:11802209|PMID:11920621|PMID:12360400|PMID:12400015|PMID:12601471|PMID:16528604|PMID:16644204|PMID:16683254|PMID:16998791|PMID:17591843|PMID:18446624|PMID:18465347|PMID:19949876|PMID:20104584|PMID:20727672|PMID:21922593|PMID:23704984|PMID:24249303|PMID:24504028|PMID:25085752|PMID:25682074|PMID:25741868|PMID:26028024|PMID:26295337|PMID:26467025|PMID:26541979|PMID:27257965|PMID:27553291|PMID:28324225|PMID:28492532|PMID:28724667|PMID:29021639|PMID:29280214|PMID:29446198|PMID:30078507|PMID:30209399|PMID:36988593|PMID:8554067|PMID:9760198 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:14566 disease of cellular proliferation ISO RGD:69132 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15520196 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1520 colon carcinoma ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:25741868|PMID:26295337|PMID:26467025|PMID:28492532|PMID:31911673|PMID:33471991 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10090482|PMID:10090881|PMID:10196379|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10422801|PMID:10447273|PMID:10453741|PMID:10464609|PMID:10480351|PMID:10486320|PMID:10508480|PMID:10528853|PMID:10595255|PMID:10612827|PMID:10644434|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10788334|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10918303|PMID:10923033|PMID:10984458|PMID:11030417|PMID:11102978|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11250694|PMID:11304778|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11437933|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11573085|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11877378|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11927492|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:12007222|PMID:12014998|PMID:12037674|PMID:12070551|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12360400|PMID:12360411|PMID:12393792|PMID:12402332|PMID:12427538|PMID:12442273|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12732733|PMID:12774040|PMID:12827452|PMID:12872263|PMID:12872265|PMID:12937835|PMID:12938098|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14517958|PMID:14534301|PMID:14555511|PMID:14574155|PMID:14647443|PMID:14684619|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15350310|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15515971|PMID:15617999|PMID:15689452|PMID:15726418|PMID:15744030|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16084575|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16489001|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17233897|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17688236|PMID:17719744|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18228134|PMID:18273839|PMID:18284688|PMID:18312450|PMID:18375895|PMID:18414213|PMID:18415037|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18712473|PMID:18762988|PMID:18779604|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951461|PMID:18980973|PMID:18992264 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:19016756|PMID:19029836|PMID:19098453|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19329713|PMID:19353265|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19563646|PMID:19616529|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19818148|PMID:19863560|PMID:19892845|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20033483|PMID:20043088|PMID:20103620|PMID:20104584|PMID:20151938|PMID:20167696|PMID:20180971|PMID:20215541|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20378548|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20569256|PMID:20579331|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20737206|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324516|PMID:213324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21638052|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21883705|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21993501|PMID:22006311|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22615956|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23096355|PMID:23161852|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23772696|PMID:23867111|PMID:23893897|PMID:23961350|PMID:23982851|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24131973|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24312913|PMID:24372583|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24607278|PMID:24618965|PMID:24660075|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25085752|PMID:25136594|PMID:25159151|PMID:25186627|PMID:25256238|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25885115|PMID:25896959|PMID:25948282|PMID:25971625|PMID:26014432|PMID:26026974|PMID:26028024|PMID:26052229|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26564481|PMID:26580448 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26622941|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26843898|PMID:26845104|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28265380|PMID:28283652|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30283497|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30630526|PMID:30675319|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30765603|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31341520|PMID:31343793|PMID:31360874|PMID:31409081|PMID:31422574|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31706072|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31954625|PMID:32068069|PMID:32092317|PMID:32123317|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32812259|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33875706|PMID:34063308|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9649133|PMID:9667259 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10090482|PMID:10090881|PMID:10196379|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10422801|PMID:10447273|PMID:10453741|PMID:10464609|PMID:10480351|PMID:10486320|PMID:10508480|PMID:10528853|PMID:10595255|PMID:10644434|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10788334|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10918303|PMID:10923033|PMID:10984458|PMID:11030417|PMID:11102978|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11250694|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11573085|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11877378|PMID:11896095|PMID:11920621|PMID:11927492|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:12007222|PMID:12014998|PMID:12070551|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12360400|PMID:12360411|PMID:12400015|PMID:12402332|PMID:12427538|PMID:12442273|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12732733|PMID:12774040|PMID:12827452|PMID:12872263|PMID:12872265|PMID:12937835|PMID:12938098|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14517958|PMID:14534301|PMID:14555511|PMID:14574155|PMID:14647443|PMID:14684619|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15350310|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15515971|PMID:15617999|PMID:15689452|PMID:15726418|PMID:15744030|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16084575|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16489001|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17233897|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17688236|PMID:17719744|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18228134|PMID:18273839|PMID:18284688|PMID:18312450|PMID:18375895|PMID:18414213|PMID:18415037|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18712473|PMID:18762988|PMID:18779604|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19147582 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:19200354|PMID:19208665|PMID:19241424|PMID:19329713|PMID:19353265|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19563646|PMID:19616529|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19818148|PMID:19863560|PMID:19892845|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20033483|PMID:20043088|PMID:20103620|PMID:20104584|PMID:20151938|PMID:20167696|PMID:20180971|PMID:20215541|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20378548|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20569256|PMID:20579331|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20737206|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324516|PMID:213324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21638052|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21883705|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21993501|PMID:22006311|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22615956|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23096355|PMID:23161852|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23772696|PMID:23867111|PMID:23893897|PMID:23961350|PMID:23982851|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24131973|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24312913|PMID:24372583|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24607278|PMID:24618965|PMID:24660075|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25085752|PMID:25136594|PMID:25159151|PMID:25186627|PMID:25256238|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25885115|PMID:25896959|PMID:25948282|PMID:25971625|PMID:26014432|PMID:26026974|PMID:26028024|PMID:26052229|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26564481|PMID:26580448|PMID:26622941|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28265380|PMID:28283652|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30283497|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30675319|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30765603|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31341520|PMID:31343793|PMID:31360874|PMID:31409081|PMID:31422574|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31706072|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31954625|PMID:32068069|PMID:32092317|PMID:32123317|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32812259|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33875706|PMID:34063308|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28265380|PMID:28283652|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30181556|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30283497|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30675319|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30765603|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31409081|PMID:31422574|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31589614|PMID:31706072|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31954625|PMID:31957001|PMID:32068069|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32426482|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32812259|PMID:32854451|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33720054|PMID:33875706|PMID:34063308|PMID:34749799|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28265380|PMID:28283652|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30181556|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30283497|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30675319|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30765603|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31409081|PMID:31422574|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31954625|PMID:31957001|PMID:32068069|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32426482|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32812259|PMID:32854451|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33720054|PMID:33875706|PMID:34063308|PMID:34749799|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10090482|PMID:10090881|PMID:10196379|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10422801|PMID:10447273|PMID:10453741|PMID:10464609|PMID:10480351|PMID:10486320|PMID:10508480|PMID:10528853|PMID:10595255|PMID:10644434|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10788334|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10984458|PMID:11030417|PMID:11102978|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11250694|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11573085|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11877378|PMID:11896095|PMID:11920621|PMID:11927492|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:12007222|PMID:12014998|PMID:12070551|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12360400|PMID:12360411|PMID:12400015|PMID:12402332|PMID:12427538|PMID:12442273|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12732733|PMID:12774040|PMID:12774043|PMID:12827452|PMID:12872263|PMID:12872265|PMID:12937835|PMID:12938098|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14517958|PMID:14534301|PMID:14555511|PMID:14574155|PMID:14647443|PMID:14684619|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15350310|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15515971|PMID:15617999|PMID:15689452|PMID:15726418|PMID:15744030|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16084575|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16489001|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17233897|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17688236|PMID:17719744|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18228134|PMID:18273839|PMID:18284688|PMID:18312450|PMID:18375895|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18712473|PMID:18762988|PMID:18779604|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951461|PMID:18980973 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19329713|PMID:19353265|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19563646|PMID:19616529|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19818148|PMID:19863560|PMID:19892845|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20033483|PMID:20043088|PMID:20103620|PMID:20104584|PMID:20151938|PMID:20167696|PMID:20180971|PMID:20215541|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20378548|PMID:20406939|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20569256|PMID:20579331|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20737206|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324516|PMID:213324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21638052|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21883705|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21993501|PMID:22006311|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22615956|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23096355|PMID:23161852|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23772696|PMID:23867111|PMID:23893897|PMID:23961350|PMID:23982851|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24131973|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24312913|PMID:24372583|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24607278|PMID:24618965|PMID:24660075|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25085752|PMID:25136594|PMID:25159151|PMID:25186627|PMID:25256238|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25885115|PMID:25896959|PMID:25948282|PMID:25971625|PMID:26014432|PMID:26026974|PMID:26028024|PMID:26052229|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26564481|PMID:26580448|PMID:26622941|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28265380|PMID:28283652|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30181556|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30675319|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31336956|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31368036|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31954625|PMID:31957001|PMID:32068069|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32658311|PMID:32812259|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33468216|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33720054|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34296289|PMID:34749799|PMID:34981296|PMID:35681111|PMID:7493024|PMID:7611277|PMID:7663517 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10090482|PMID:10090881|PMID:10196379|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10422801|PMID:10447273|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10480351|PMID:10486320|PMID:10508480|PMID:10528853|PMID:10595255|PMID:10644434|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10788334|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10984458|PMID:11030417|PMID:11102978|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11250694|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11573085|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11877378|PMID:11896095|PMID:11920621|PMID:11927492|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:12007222|PMID:12014998|PMID:12070551|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12360400|PMID:12360411|PMID:12400015|PMID:12402332|PMID:12427538|PMID:12442273|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12827452|PMID:12872263|PMID:12872265|PMID:12937835|PMID:12938098|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14517958|PMID:14534301|PMID:14555511|PMID:14574155|PMID:14576434|PMID:14647443|PMID:14684619|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15350310|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15515971|PMID:15617999|PMID:15689452|PMID:15726418|PMID:15744030|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16084575|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16489001|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17233897|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17688236|PMID:17719744|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18228134|PMID:18273839|PMID:18284688|PMID:18312450|PMID:18375895|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18712473|PMID:18762988|PMID:18779604 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19329713|PMID:19353265|PMID:19359128|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19563646|PMID:19616529|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19818148|PMID:19863560|PMID:19892845|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20033483|PMID:20043088|PMID:20103620|PMID:20104584|PMID:20151938|PMID:20167696|PMID:20180971|PMID:20215541|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20378548|PMID:20406939|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20569256|PMID:20579331|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324516|PMID:213324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21638052|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21834074|PMID:21883705|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21993501|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22615956|PMID:22666503|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23096355|PMID:23161852|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23772696|PMID:23867111|PMID:23893897|PMID:23954390|PMID:23961350|PMID:23982851|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24131973|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24312913|PMID:24319668|PMID:24372583|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24607278|PMID:24618965|PMID:24660075|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25085752|PMID:25136594|PMID:25159151|PMID:25186627|PMID:25256238|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25885115|PMID:25896959|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26014432|PMID:26026974|PMID:26028024|PMID:26052229|PMID:26083025|PMID:26092435 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26580448|PMID:26622941|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27844240|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27989354|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28283652|PMID:28285342|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28423363|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30489631|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31336956|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31954625|PMID:31957001|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34597585|PMID:34749799|PMID:34981296|PMID:35681111|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26026974|PMID:26028024|PMID:26052229|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26580448|PMID:26622941|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27844240|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27989354|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28283652|PMID:28285342|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28423363|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29875428|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30489631|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31336956|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824|PMID:31815095 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10090482|PMID:10090881|PMID:10196379|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10422801|PMID:10447273|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10480351|PMID:10486320|PMID:10508480|PMID:10528853|PMID:10595255|PMID:10612827|PMID:10644434|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10788334|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10984458|PMID:11030417|PMID:11102978|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11250694|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11437933|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11573085|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11877378|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11927492|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:12007222|PMID:12014998|PMID:12070551|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12360400|PMID:12360411|PMID:12400015|PMID:12402332|PMID:12427538|PMID:12442273|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12827452|PMID:12872263|PMID:12872265|PMID:12937835|PMID:12938098|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14517958|PMID:14534301|PMID:14555511|PMID:14574155|PMID:14576434|PMID:14647443|PMID:14684619|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15350310|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15515971|PMID:15617999|PMID:15689452|PMID:15726418|PMID:15744030|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16084575|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16489001|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17233897|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17688236|PMID:17719744|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18228134|PMID:18273839|PMID:18284688|PMID:18312450|PMID:18375895|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:18703817|PMID:18712473|PMID:18762988|PMID:18779604|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19329713|PMID:19353265|PMID:19359128|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19563646|PMID:19616529|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19818148|PMID:19863560|PMID:19892845|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20033483|PMID:20043088|PMID:20103620|PMID:20104584|PMID:20151938|PMID:20167696|PMID:20180971|PMID:20215541|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20378548|PMID:20406939|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20569256|PMID:20579331|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324516|PMID:213324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21638052|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21834074|PMID:21883705|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21993501|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22615956|PMID:22666503|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23096355|PMID:23161852|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23772696|PMID:23867111|PMID:23893897|PMID:23954390|PMID:23961350|PMID:23982851|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24131973|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24312913|PMID:24319668|PMID:24372583|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24607278|PMID:24618965|PMID:24660075|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25085752|PMID:25136594|PMID:25159151|PMID:25186627|PMID:25256238|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25885115|PMID:25896959|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26014432 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34597585|PMID:34749799|PMID:34981296|PMID:35681111|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32803532|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34597585|PMID:34749799|PMID:34981296|PMID:35681111|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31815095|PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32803532|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34597585|PMID:34749799|PMID:34981296|PMID:35681111|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26026974|PMID:26028024|PMID:26052229|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26580448|PMID:26622941|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27844240|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27989354|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28283652|PMID:28285342|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28423363|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29875428|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30489631|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31336956|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31815095|PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32803532|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34597585|PMID:34749799|PMID:34981296|PMID:35681111|PMID:36988593|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer susceptibility ISO RGD:69132 D RGD:9068941 20200609 RGD DNA:mutation PMID:7907678|REF_RGD_ID:1599497 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer susceptibility ISO RGD:69132 D RGD:9068941 20200609 RGD mRNA:allelic imbalance:lymphocyte PMID:18204050|REF_RGD_ID:2293153 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 PMID:10389907|PMID:10788334|PMID:10811118|PMID:11251181|PMID:11278247|PMID:11320250|PMID:11504767|PMID:11739404|PMID:12204006|PMID:12393792|PMID:12400015|PMID:12566964|PMID:12732733|PMID:12810666|PMID:12938098|PMID:15024741|PMID:15235020|PMID:15290653|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15569676|PMID:15876480|PMID:16168118|PMID:16227521|PMID:16267036|PMID:16403807|PMID:16949048|PMID:17100994|PMID:18273839|PMID:18680205|PMID:18763032|PMID:18783588|PMID:19208665|PMID:19370767|PMID:19594371|PMID:19770520|PMID:19996028|PMID:20103620|PMID:20104584|PMID:20180014|PMID:20345474|PMID:20373018|PMID:20507347|PMID:20569256|PMID:20683152|PMID:21232165|PMID:21324516|PMID:21922593|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22172724|PMID:22486713|PMID:22713736|PMID:22776961|PMID:22798144|PMID:22843421|PMID:23161852|PMID:23199084|PMID:23469205|PMID:23683081|PMID:23867111|PMID:24033266|PMID:24131973|PMID:24312913|PMID:24504028|PMID:24884479|PMID:25330149|PMID:25400221|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25948282|PMID:26083025|PMID:26187060|PMID:26206375|PMID:26219728|PMID:26295337|PMID:26332594|PMID:26350514|PMID:26467025|PMID:26681312|PMID:26852130|PMID:26911350|PMID:27153395|PMID:27272900|PMID:27425403|PMID:27433846|PMID:27498913|PMID:27741520|PMID:27907908|PMID:27978560|PMID:28111427|PMID:28263838|PMID:28324225|PMID:28364669|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28492532|PMID:29161300|PMID:29215753|PMID:29335924|PMID:29339979|PMID:29433453|PMID:29446198|PMID:29492181|PMID:29667044|PMID:29797126|PMID:29961768|PMID:29998185|PMID:30067863|PMID:30093976|PMID:30209399|PMID:30287823|PMID:30606148|PMID:31368036|PMID:31825140|PMID:32295079|PMID:32426482|PMID:32467295|PMID:32658311|PMID:33309985|PMID:33558524|PMID:33875706|PMID:7795652|PMID:7837387|PMID:7894493|PMID:8644702|PMID:8723683|PMID:8968102|PMID:9510469|PMID:9525870|PMID:9663595 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4 PMID:10090881|PMID:10389907|PMID:10447273|PMID:10464624|PMID:10486320|PMID:10615237|PMID:10739756|PMID:10788334|PMID:10811118|PMID:10885601|PMID:11102986|PMID:11157798|PMID:11251181|PMID:11278247|PMID:11320250|PMID:11389159|PMID:11391658|PMID:11410501|PMID:11466700|PMID:11504767|PMID:11597388|PMID:11739404|PMID:11802209|PMID:11896095|PMID:11920621|PMID:12125210|PMID:12204006|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12566964|PMID:12601471|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12810666|PMID:12827452|PMID:12938098|PMID:14534301|PMID:14576434|PMID:14760071|PMID:14986830|PMID:15024741|PMID:15133502|PMID:15133503|PMID:15172985|PMID:15235020|PMID:15290653|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15569676|PMID:15876480|PMID:15951956|PMID:15994883|PMID:16030426|PMID:16168118|PMID:16227521|PMID:16267036|PMID:16403807|PMID:16489001|PMID:16528604|PMID:16541315|PMID:16644204|PMID:16683254|PMID:16949048|PMID:16998791|PMID:17100994|PMID:17307836|PMID:17308087|PMID:17591843|PMID:18036263|PMID:18273839|PMID:18413725|PMID:18446624|PMID:18465347|PMID:18627636|PMID:18680205|PMID:18694767|PMID:18762988|PMID:18763032|PMID:18783588|PMID:18940477|PMID:19200354|PMID:19208665|PMID:19359128|PMID:19370767|PMID:19563646|PMID:19594371|PMID:19770520|PMID:19949876|PMID:19996028|PMID:20103620|PMID:20104584|PMID:20180014|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20455026|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20683152|PMID:20727672|PMID:20730485|PMID:21119707|PMID:21232165|PMID:21324516|PMID:21348412|PMID:21473589|PMID:21503673|PMID:21523855|PMID:21702907|PMID:21709188|PMID:21735045|PMID:21834074|PMID:21922593|PMID:21946536|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22430266|PMID:22486713|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22666503|PMID:22713736|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22843421|PMID:22889855|PMID:23110154|PMID:23161852|PMID:23164213|PMID:23199084|PMID:23232912|PMID:23239986|PMID:23469205|PMID:23479189|PMID:23683081|PMID:23704984|PMID:23747895|PMID:23867111|PMID:23954390|PMID:24033266|PMID:24131973|PMID:24249303|PMID:24285858|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24504028|PMID:24667779|PMID:24728189|PMID:24737347|PMID:24884479|PMID:25085752|PMID:25330149|PMID:25400221|PMID:25452441|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26028024|PMID:26083025|PMID:26187060|PMID:26206375|PMID:26219728|PMID:26295337|PMID:26332594|PMID:26350514|PMID:26440929|PMID:26467025|PMID:26541979|PMID:26556299|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26852130|PMID:26911350|PMID:27062684|PMID:27153395|PMID:27257965|PMID:27272900|PMID:27425403|PMID:27433846|PMID:27495310|PMID:27498913|PMID:27553291|PMID:27741520|PMID:27907908|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28263838|PMID:28283652|PMID:28285342|PMID:28324225|PMID:28364669|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28490613|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28528518|PMID:28724667|PMID:28781887|PMID:28831036|PMID:28993434|PMID:29021639|PMID:29161300|PMID:29215753|PMID:29280214|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29360161|PMID:29433453|PMID:29446198|PMID:29478780|PMID:29492181|PMID:29625052|PMID:29667044|PMID:29785135|PMID:29790872|PMID:29797126|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30209399|PMID:30257991|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30458859|PMID:30489631|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30676620|PMID:30702160|PMID:30765603|PMID:30962250|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31159747|PMID:31263571|PMID:31347298|PMID:31360904|PMID:31368036|PMID:31447099 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4 PMID:31454914|PMID:31528241|PMID:31825140|PMID:31851867|PMID:32039725|PMID:32058061|PMID:32123317|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32467295|PMID:32658311|PMID:32719484|PMID:32817299|PMID:32854451|PMID:32885271|PMID:33087888|PMID:33309985|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33875706|PMID:7795652|PMID:7837387|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8554067|PMID:8595428|PMID:8644702|PMID:8644703|PMID:8723683|PMID:8833256|PMID:8841191|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9510469|PMID:9525870|PMID:9634504|PMID:9663595|PMID:9760198|PMID:9805131|PMID:9836472 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4 PMID:31454914|PMID:31528241|PMID:31825140|PMID:31851867|PMID:31911673|PMID:32039725|PMID:32058061|PMID:32123317|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32467295|PMID:32658311|PMID:32719484|PMID:32817299|PMID:32854451|PMID:32885271|PMID:33087888|PMID:33309985|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33875706|PMID:36988593|PMID:7795652|PMID:7837387|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8554067|PMID:8595428|PMID:8644702|PMID:8644703|PMID:8723683|PMID:8833256|PMID:8841191|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9510469|PMID:9525870|PMID:9634504|PMID:9663595|PMID:9760198|PMID:9805131|PMID:9836472 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:1793 pancreatic cancer susceptibility ISO RGD:69132 D RGD:7240710 20230517 OMIM 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:219 colon cancer disease_progression ISO RGD:69132 D RGD:9068941 20210521 RGD PMID:33583275|REF_RGD_ID:126925959 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:219 colon cancer susceptibility ISO RGD:69132 D RGD:9068941 20200609 RGD DNA:mutation PMID:7907678|REF_RGD_ID:1599497 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:2394 ovarian cancer ISO RGD:69132 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:10227398|PMID:10340909|PMID:10389907|PMID:10644434|PMID:10699917|PMID:11044354|PMID:11102986|PMID:11149425|PMID:11157798|PMID:11251181|PMID:11504767|PMID:11802209|PMID:12181777|PMID:12183412|PMID:12393792|PMID:12402341|PMID:12496476|PMID:12566964|PMID:12655560|PMID:12732733|PMID:14647443|PMID:14973102|PMID:15024741|PMID:15145354|PMID:15235020|PMID:15353005|PMID:15383404|PMID:15385441|PMID:15865297|PMID:15876480|PMID:16168118|PMID:16267036|PMID:16403807|PMID:16489001|PMID:16518693|PMID:16949048|PMID:17100994|PMID:17305420|PMID:17308087|PMID:17453335|PMID:17574969|PMID:17688236|PMID:17924331|PMID:18284688|PMID:18340530|PMID:18493658|PMID:18763032|PMID:18783588|PMID:18951461|PMID:19016756|PMID:19200354|PMID:19208665|PMID:19491284|PMID:19563646|PMID:19941162|PMID:20103620|PMID:20104584|PMID:20373018|PMID:20516115|PMID:21232165|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21473589|PMID:21553119|PMID:21559243|PMID:21702907|PMID:21725363|PMID:21751003|PMID:21965345|PMID:21989927|PMID:21990134|PMID:22006311|PMID:22034289|PMID:22217648|PMID:22476429|PMID:22505045|PMID:22516946|PMID:22711857|PMID:22752604|PMID:22753008|PMID:22776961|PMID:22798144|PMID:22889855|PMID:22970155|PMID:23161852|PMID:23199084|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23683081|PMID:23867111|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24218521|PMID:24249303|PMID:24312913|PMID:24489791|PMID:24504028|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24845084|PMID:25186627|PMID:25330149|PMID:25452441|PMID:25472942|PMID:25525159|PMID:25556971|PMID:25637381|PMID:25646469|PMID:25682074|PMID:25741868|PMID:25802882|PMID:25823446|PMID:25939603|PMID:25948282|PMID:26028024|PMID:26083025|PMID:26206375|PMID:26219728|PMID:26295337|PMID:26332594|PMID:26350514|PMID:26467025|PMID:26541979|PMID:26689913|PMID:26709275|PMID:26852130|PMID:26884819|PMID:26976419|PMID:27153395|PMID:27157322|PMID:27257965|PMID:27272900|PMID:27425403|PMID:27498913|PMID:27658390|PMID:27741520|PMID:27802165|PMID:27831900|PMID:27907908|PMID:28111427|PMID:28176296|PMID:28265380|PMID:28294317|PMID:28324225|PMID:28364669|PMID:28440963|PMID:28477318|PMID:28480178|PMID:28492532|PMID:28664449|PMID:28664506|PMID:28692638|PMID:28724667|PMID:28831036|PMID:28970858|PMID:28993434|PMID:29020732|PMID:29161300|PMID:29176636|PMID:29215753|PMID:29297111|PMID:29310832|PMID:29335924|PMID:29339979|PMID:29446198|PMID:29470806|PMID:29667044|PMID:29681614|PMID:29712865|PMID:29731985|PMID:29752822|PMID:30093976|PMID:30103829|PMID:30209399|PMID:30287823|PMID:30415210|PMID:30555256|PMID:30606148|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30825404|PMID:30875412|PMID:31131967|PMID:31159747|PMID:31214711|PMID:31372034|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31528241|PMID:31742824|PMID:31825140|PMID:31911673|PMID:32295079|PMID:32338768|PMID:32426482|PMID:32467295|PMID:32710294|PMID:32832836|PMID:33087929|PMID:33098347|PMID:33151324|PMID:33309985|PMID:33442023|PMID:33468216|PMID:33471991|PMID:33875706|PMID:34301763|PMID:36988593|PMID:7611277|PMID:7837387|PMID:7894493|PMID:8644702|PMID:8723683|PMID:8807330|PMID:9150149|PMID:9150154|PMID:9510469|PMID:9663595 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:2394 ovarian cancer susceptibility ISO RGD:69132 D RGD:9068941 20200609 RGD DNA:insertion: :5382insC PMID:18256760|REF_RGD_ID:2293152 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:2871 endometrial carcinoma ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10090881|PMID:10447273|PMID:10464624|PMID:10667592|PMID:10667595|PMID:10739756|PMID:10788334|PMID:10885601|PMID:11157798|PMID:11251181|PMID:11466700|PMID:11504767|PMID:11597388|PMID:11802209|PMID:11896095|PMID:12125210|PMID:12393792|PMID:12402332|PMID:12496476|PMID:12566964|PMID:12752644|PMID:12771565|PMID:12955716|PMID:14576434|PMID:14986830|PMID:15024741|PMID:15133502|PMID:15235020|PMID:15383404|PMID:15876480|PMID:15951956|PMID:15994883|PMID:16014699|PMID:16030426|PMID:16168118|PMID:16267036|PMID:16284991|PMID:16541315|PMID:16685647|PMID:17307836|PMID:17308087|PMID:17574969|PMID:17591843|PMID:17924331|PMID:18489799|PMID:18694767|PMID:18762988|PMID:18763032|PMID:18783588|PMID:18936166|PMID:18940477|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19340607|PMID:19359128|PMID:19563646|PMID:20104584|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20730485|PMID:21119707|PMID:21232165|PMID:21324516|PMID:21356067|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21702907|PMID:21834074|PMID:21965345|PMID:21989927|PMID:21990134|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22185575|PMID:22430266|PMID:22535016|PMID:22666503|PMID:22776961|PMID:22889855|PMID:23161852|PMID:23199084|PMID:23232912|PMID:23469205|PMID:23683081|PMID:23867111|PMID:23954390|PMID:24033266|PMID:24055113|PMID:24312913|PMID:24319668|PMID:24504028|PMID:24737347|PMID:24845084|PMID:24884479|PMID:25330149|PMID:25452441|PMID:25472942|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25777348|PMID:25948282|PMID:25980754|PMID:26083025|PMID:26219728|PMID:26295337|PMID:26350514|PMID:26440929|PMID:26467025|PMID:26556299|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26852130|PMID:26884819|PMID:27062684|PMID:27272900|PMID:27425403|PMID:27433846|PMID:27741520|PMID:27914478|PMID:27989354|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28265380|PMID:28285342|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28724667|PMID:28831036|PMID:29161300|PMID:29168416|PMID:29297111|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29433453|PMID:29446198|PMID:29478780|PMID:29492181|PMID:29625052|PMID:29712865|PMID:29790872|PMID:29907814|PMID:29961768|PMID:30067863|PMID:30103829|PMID:30113427|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30257646|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30489631|PMID:30606148|PMID:30613976|PMID:30676620|PMID:30702160|PMID:30825404|PMID:31065452|PMID:31090900|PMID:31159747|PMID:31360904|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31528241|PMID:31825140|PMID:31851867|PMID:32039725|PMID:32058061|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32719484|PMID:32854451|PMID:32885271|PMID:33098347|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:7581445|PMID:7837387|PMID:7894492|PMID:8531967|PMID:8644702|PMID:8644703|PMID:8833256|PMID:8841191|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9634504|PMID:9663595 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:3007 breast ductal carcinoma ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma PMID:10196379|PMID:11400546|PMID:14555511|PMID:15235020|PMID:16014699|PMID:17341484|PMID:17585057|PMID:19661094|PMID:20104584|PMID:21232165|PMID:21702907|PMID:21708019|PMID:21965345|PMID:21990134|PMID:22136207|PMID:22703879|PMID:23192404|PMID:23249957|PMID:23469205|PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532|PMID:9063749 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:3008 invasive ductal carcinoma ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infiltrating duct carcinoma of breast PMID:11179017|PMID:11956590|PMID:12698193|PMID:12955716|PMID:14517958|PMID:14760071|PMID:15145354|PMID:16455195|PMID:17645508|PMID:20104584|PMID:20727672|PMID:21702907|PMID:22711857|PMID:22798144|PMID:23469205|PMID:23479189|PMID:23633455|PMID:24884479|PMID:25256238|PMID:25741868|PMID:25863477|PMID:26026974|PMID:26295337|PMID:26467025|PMID:28324225|PMID:28492532|PMID:29446198|PMID:30078507|PMID:30702160|PMID:30720863|PMID:7493024 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:305 carcinoma ISO RGD:69132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12203372 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:3247 rhabdomyosarcoma ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:12920083|PMID:16287141|PMID:20104584|PMID:21232165|PMID:22923021|PMID:23397983|PMID:23635950|PMID:25741868|PMID:25940717|PMID:26295337|PMID:26306726|PMID:26467025|PMID:26852130|PMID:28492532|PMID:28740454|PMID:30940100|PMID:32772980 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:3458 breast adenocarcinoma treatment ISO RGD:69132 D RGD:9068941 20210521 RGD PMID:8589721|REF_RGD_ID:126925966 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:3459 breast carcinoma ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:10406662|PMID:10486320|PMID:10737987|PMID:10788334|PMID:10811118|PMID:11157798|PMID:11179017|PMID:11251181|PMID:11278247|PMID:11320250|PMID:11359908|PMID:11431698|PMID:11504767|PMID:11597388|PMID:11606101|PMID:11710890|PMID:11739404|PMID:11802208|PMID:11802209|PMID:11916966|PMID:11920621|PMID:12112655|PMID:12181777|PMID:12204006|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12566964|PMID:12601471|PMID:12732733|PMID:12810666|PMID:12872265|PMID:12938098|PMID:12955716|PMID:15024741|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15290653|PMID:15340362|PMID:15365993|PMID:15383404|PMID:15569676|PMID:15689452|PMID:15876480|PMID:15923272|PMID:16168118|PMID:16227521|PMID:16267036|PMID:16403807|PMID:16528604|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16758124|PMID:16905680|PMID:16943438|PMID:16998791|PMID:17011978|PMID:17080309|PMID:17305420|PMID:17308087|PMID:17576681|PMID:17591843|PMID:17924331|PMID:18036263|PMID:18446624|PMID:18465347|PMID:18627636|PMID:18680205|PMID:18693280|PMID:18763032|PMID:18783588|PMID:19016756|PMID:19208665|PMID:19404736|PMID:19594371|PMID:19770520|PMID:19949876|PMID:19996028|PMID:20103620|PMID:20104584|PMID:20180014|PMID:20189727|PMID:20215541|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20950396|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21156238|PMID:21232165|PMID:21324516|PMID:2144777|PMID:21447777|PMID:21520273|PMID:21559243|PMID:21702907|PMID:21720365|PMID:21913181|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22044689|PMID:22160602|PMID:22172724|PMID:22399190|PMID:22703879|PMID:22713736|PMID:22776961|PMID:22798144|PMID:22843421|PMID:23161852|PMID:23199084|PMID:23233716|PMID:23239986|PMID:23348723|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704984|PMID:23867111|PMID:24033266|PMID:24065114|PMID:24131973|PMID:24249303|PMID:24312913|PMID:24504028|PMID:24569164|PMID:24667779|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25186627|PMID:25330149|PMID:25400221|PMID:25476495|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25748678|PMID:25782689|PMID:25850536|PMID:25863477|PMID:25884701|PMID:25948282|PMID:26028024|PMID:26083025|PMID:26187060|PMID:26219728|PMID:26295337|PMID:26350514|PMID:26467025|PMID:26541979|PMID:26656232|PMID:26681312|PMID:26845104|PMID:26848529|PMID:26852130|PMID:27062684|PMID:27153395|PMID:27257965|PMID:27272900|PMID:27328445|PMID:27425403|PMID:27433846|PMID:27553291|PMID:27741520|PMID:27908594|PMID:27978560|PMID:28176296|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28492532|PMID:28724667|PMID:28781887|PMID:28873162|PMID:28888541|PMID:28993434|PMID:29021639|PMID:29116469|PMID:29161300|PMID:29176636|PMID:29233532|PMID:29280214|PMID:29335924|PMID:29339979|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29492181|PMID:29506128|PMID:29797126|PMID:29805665|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30014164|PMID:30067863|PMID:30078507|PMID:30209399|PMID:30266954|PMID:30309222|PMID:30350268|PMID:30606148|PMID:30675319|PMID:30702160|PMID:30728895|PMID:30765603|PMID:30972954|PMID:31131967|PMID:31159747|PMID:31341520|PMID:31368036|PMID:31467961|PMID:31815095|PMID:31911673|PMID:32295079|PMID:32438681|PMID:32658311|PMID:32733560|PMID:32885271|PMID:33558524|PMID:36988593|PMID:7795652|PMID:7837387|PMID:7894493|PMID:7939630|PMID:8554067|PMID:8595420|PMID:8644702|PMID:8807330|PMID:8968102|PMID:8972225|PMID:9063749|PMID:9523200|PMID:9525870|PMID:9536098|PMID:9663595|PMID:9760198 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:3459 breast carcinoma disease_progression ISO RGD:69132 D RGD:9068941 20200609 RGD protein:altered localization:cytoplasm PMID:18400253|REF_RGD_ID:2293150 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:69132 D RGD:9068941 20210521 RGD DNA:SNP: :rs799917 (human) PMID:23749772|REF_RGD_ID:126925960 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:69132 D RGD:9068941 20210604 RGD PMID:21575522|PMID:23128816|REF_RGD_ID:126925968|REF_RGD_ID:127229935 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:69132 D RGD:9068941 20210604 RGD DNA:hypermethylation:promoter PMID:23335114|REF_RGD_ID:127229949 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:69132 D RGD:9068941 20210604 RGD PMID:24443257|REF_RGD_ID:127229948 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:4001 ovarian carcinoma ISO RGD:69132 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:10227398|PMID:10389907|PMID:10804288|PMID:11149425|PMID:11595708|PMID:11802209|PMID:12402341|PMID:12655560|PMID:15145354|PMID:15865297|PMID:16267036|PMID:16826315|PMID:18159056|PMID:19016756|PMID:20104584|PMID:20373018|PMID:21324516|PMID:21553119|PMID:21614564|PMID:22006311|PMID:22752604|PMID:22798144|PMID:23175448|PMID:23536787|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24218521|PMID:24312913|PMID:24916970|PMID:25452441|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25802882|PMID:25948282|PMID:26028024|PMID:26187060|PMID:26295337|PMID:26467025|PMID:26709275|PMID:26848529|PMID:27062684|PMID:27741520|PMID:27831900|PMID:27836010|PMID:28176296|PMID:28324225|PMID:28492532|PMID:28541631|PMID:28724667|PMID:28993434|PMID:29310832|PMID:29339979|PMID:29446198|PMID:29470806|PMID:29752822|PMID:29907814|PMID:30093976|PMID:30555256|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30875412|PMID:30968603|PMID:31159747|PMID:31336956|PMID:31372034|PMID:31447099|PMID:31528241|PMID:31825140|PMID:32318955|PMID:32438681|PMID:32710294|PMID:32832836|PMID:33087929|PMID:33151324|PMID:33442023|PMID:36988593|PMID:7894493|PMID:8808710|PMID:9150154 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:403 mouth disease ISO RGD:69132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:4362 cervical cancer disease_progression ISO RGD:69132 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:12773202|REF_RGD_ID:2298941 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:4441 dysgerminoma ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dysgerminoma PMID:11376024|PMID:16683254|PMID:19491284|PMID:20104584|PMID:21204799|PMID:23479189|PMID:23536787|PMID:24010542|PMID:24312913|PMID:24372583|PMID:24728189|PMID:25741868|PMID:26295337|PMID:26296701|PMID:26467025|PMID:26822237|PMID:27062684|PMID:27836010|PMID:28492532|PMID:28993434|PMID:29446198|PMID:29907814|PMID:30078507|PMID:30130155|PMID:30322717|PMID:30702160|PMID:30720863|PMID:31159747|PMID:32885271|PMID:9150151 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:4905 pancreatic carcinoma ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of head of pancreas | ClinVar Annotator: match by term: Carcinoma of pancreas PMID:10667592|PMID:10667595|PMID:12566964|PMID:15024741|PMID:16168118|PMID:16284991|PMID:16685647|PMID:18489799|PMID:19147582|PMID:19340607|PMID:20104584|PMID:25452441|PMID:25741868|PMID:25777348|PMID:26467025|PMID:26681312|PMID:28324225|PMID:28492532|PMID:29446198|PMID:30257646|PMID:30702160|PMID:32295079|PMID:9150174 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5517 stomach carcinoma disease_progression ISO RGD:69132 D RGD:9068941 20210521 RGD PMID:23569343|REF_RGD_ID:9589059 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10612827|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12060539|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:125827|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14722926|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:15001988|PMID:15004537|PMID:15024741 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:15026808|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16172191|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16633366|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21461827|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703870 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25318351|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:255556971|PMID:25556971|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25723446|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27352967|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27495310|PMID:27498913|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209299|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31248605|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31409081|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31959133|PMID:32008151|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32125938|PMID:32195105|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32806537|PMID:32812259|PMID:32856854|PMID:32866190|PMID:33010199|PMID:33067557|PMID:33078592|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33309985|PMID:33413596|PMID:33428613|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33630411|PMID:33850299|PMID:33875564|PMID:33875706 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:33948387|PMID:34063308|PMID:34271787|PMID:34301763|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9714446|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27352967|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27495310|PMID:27498913|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29202330|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209299|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31959133|PMID:32008151|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32125938|PMID:32195105|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32806537|PMID:32812259|PMID:32856854|PMID:32866190|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33309985|PMID:33413596|PMID:33428613|PMID:33471991|PMID:33526602 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33630411|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34453642|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9714446|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16172191|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21461827|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31368036|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31959133|PMID:32008151|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32125938|PMID:32195105|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32806537|PMID:32812259|PMID:32856854|PMID:32866190|PMID:32885271|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33309985|PMID:33413596|PMID:33428613|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33630411|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34572941|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:32008151|PMID:32025337|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32709856|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32854451|PMID:32856854|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33428613|PMID:33468216|PMID:33471991 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33720054|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34572941|PMID:34749799|PMID:35464868|PMID:35535697|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16172191|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21461827|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:32008151|PMID:32025337|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32709856|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32854451|PMID:32856854|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33428613|PMID:33468216|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33720054|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34572941|PMID:34749799|PMID:35300142|PMID:35464868|PMID:35535697|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26247049|PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:32008151|PMID:32025337|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32571788|PMID:32599251|PMID:32658311|PMID:32709856|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32854451|PMID:32856854|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33428613|PMID:33468216|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33720054|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34572941|PMID:34749799|PMID:35300142|PMID:35464868|PMID:35535697|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26247049|PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:32008151|PMID:32025337|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32571788|PMID:32599251|PMID:32658311|PMID:32709856|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32854451|PMID:32856854|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33113089|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33428613|PMID:33468216|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33720054|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34572941|PMID:34749799|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35300142|PMID:35464868|PMID:35535697|PMID:35886069|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32050665|PMID:32068069|PMID:32072338 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34063308|PMID:34072659|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35300142|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35886069|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:14871810|PMID:14961556|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34063308|PMID:34072659|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35300142|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35875314|PMID:35886069|PMID:36385762|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10612827|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12060539|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12928470|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17185394|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35281878|PMID:35300142|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35875314|PMID:35886069|PMID:35980532|PMID:36385762|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15846789|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17185394|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35875314|PMID:35886069|PMID:35980532|PMID:36385762|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20840220|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21270786|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25974703|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27981572|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35875314|PMID:35886069|PMID:35980532|PMID:36385762|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:2482513|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10612827|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11941481|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12060539|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12928470|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15846789|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17185394|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20840220|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34917121|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35264596|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35980532|PMID:36171434|PMID:36329109|PMID:36385762|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome susceptibility ISO RGD:69132 D RGD:7240710 20230517 OMIM 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:5744 ovary serous adenocarcinoma ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian serous surface papillary adenocarcinoma PMID:16084575|PMID:16455195|PMID:16949048|PMID:17100994|PMID:19656164|PMID:20033483|PMID:20104584|PMID:20950396|PMID:22160602|PMID:22217648|PMID:22382806|PMID:22762150|PMID:22798144|PMID:23633455|PMID:23961350|PMID:24728189|PMID:24916970|PMID:25741868|PMID:25863477|PMID:26402875|PMID:26467025|PMID:27167707|PMID:27836010|PMID:28111427|PMID:28492532|PMID:29348823|PMID:29446198|PMID:29907814|PMID:30257646|PMID:30702160 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:630 genetic disease ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:31911673 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:6741 bilateral breast cancer ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: bilateral breast cancer PMID:11376024|PMID:16683254|PMID:19491284|PMID:20104584|PMID:21204799|PMID:23479189|PMID:23536787|PMID:24010542|PMID:24312913|PMID:24372583|PMID:24728189|PMID:25741868|PMID:26295337|PMID:26296701|PMID:26467025|PMID:26822237|PMID:27062684|PMID:27836010|PMID:28492532|PMID:28993434|PMID:29446198|PMID:29907814|PMID:30078507|PMID:30130155|PMID:30322717|PMID:30702160|PMID:30720863|PMID:31159747|PMID:32885271|PMID:9150151 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:8584 Burkitt lymphoma ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Burkitt lymphoma PMID:17262179|PMID:26467025|PMID:28492532|PMID:31911673 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:69132 D RGD:9068941 20200609 RGD DNA:deletions:exon PMID:10442317|REF_RGD_ID:2298942 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:69132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12203372 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9002221 Hyperplasia ISO RGD:10246 D RGD:9068941 20200609 RGD PMID:11889595|REF_RGD_ID:2293156 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9002304 Prostatic Neoplasms ISO RGD:69132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17585057 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9002644 Premature Aging ISO RGD:10246 D RGD:9068941 20200609 RGD PMID:12533509|REF_RGD_ID:10059406 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9002762 Ovarian Neoplasms ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:10090881|PMID:10196379|PMID:10227398|PMID:10441573|PMID:10447273|PMID:10464624|PMID:10486320|PMID:10502781|PMID:10528853|PMID:10615237|PMID:10644434|PMID:10739756|PMID:10788334|PMID:10811118|PMID:10885601|PMID:11030418|PMID:11102986|PMID:11157798|PMID:11179017|PMID:11251181|PMID:11278247|PMID:11320250|PMID:11389159|PMID:11391658|PMID:11410501|PMID:11462242|PMID:11466700|PMID:11504767|PMID:11597388|PMID:11606101|PMID:11710890|PMID:11739404|PMID:11802209|PMID:11844822|PMID:11896095|PMID:11920621|PMID:11938448|PMID:12097257|PMID:12112655|PMID:12125210|PMID:12181777|PMID:12204006|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12491499|PMID:12505256|PMID:12566964|PMID:12601471|PMID:12655560|PMID:12672316|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12810666|PMID:12827452|PMID:12938098|PMID:12955716|PMID:14534301|PMID:14576434|PMID:14647443|PMID:14760071|PMID:14986830|PMID:15024741|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15172985|PMID:15217508|PMID:15235020|PMID:15290653|PMID:15365993|PMID:15383404|PMID:15569676|PMID:15712267|PMID:15865297|PMID:15876480|PMID:15951956|PMID:15951958|PMID:15994883|PMID:16030426|PMID:16168118|PMID:16227521|PMID:16267036|PMID:16403807|PMID:16489001|PMID:16528604|PMID:16541315|PMID:16615107|PMID:16644204|PMID:16683254|PMID:16777318|PMID:16847550|PMID:16998791|PMID:17148771|PMID:17221156|PMID:17307836|PMID:17308087|PMID:17576681|PMID:17591843|PMID:17688236|PMID:18036263|PMID:18159056|PMID:18228134|PMID:18413725|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18627636|PMID:18680205|PMID:18694767|PMID:18703817|PMID:18762988|PMID:18763032|PMID:18783588|PMID:18824701|PMID:18940477|PMID:18980973|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19359128|PMID:19370767|PMID:19563646|PMID:19594371|PMID:19770520|PMID:19941162|PMID:19949876|PMID:19996028|PMID:20051372|PMID:20103620|PMID:20104584|PMID:20180014|PMID:20189727|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20455026|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20683152|PMID:20727672|PMID:20730485|PMID:20807450|PMID:20950396|PMID:21119707|PMID:21120943|PMID:21147198|PMID:21203900|PMID:21232165|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21702907|PMID:21709188|PMID:21729660|PMID:21735045|PMID:21769658|PMID:21834074|PMID:21922593|PMID:21946536|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22034289|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22430266|PMID:22434525|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22666503|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22843421|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23110154|PMID:23161852|PMID:23164213|PMID:23199084|PMID:23232912|PMID:23239986|PMID:23289006|PMID:23469205|PMID:23479189|PMID:23536787|PMID:23683081|PMID:23697973|PMID:23704984|PMID:23747895|PMID:23867111|PMID:23954390|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24131973|PMID:24218521|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24504028|PMID:24618965|PMID:24667779|PMID:24728189|PMID:24737347|PMID:24827135|PMID:24884479|PMID:24916970|PMID:25036526|PMID:25066507|PMID:25085752|PMID:25186627|PMID:25330149|PMID:25400221|PMID:25452441|PMID:25476495|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25724305|PMID:25741868|PMID:25777348|PMID:25782689|PMID:25823446|PMID:25850536|PMID:25863477|PMID:25880076|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26014432|PMID:26028024|PMID:26083025|PMID:26187060|PMID:26219728|PMID:26287763|PMID:26295337|PMID:26350514|PMID:26440929|PMID:26467025|PMID:26541979|PMID:26556299|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26845104|PMID:26852130|PMID:27062684|PMID:27067391|PMID:27153395|PMID:27157322|PMID:27167707|PMID:27257965|PMID:27272900 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9002762 Ovarian Neoplasms ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:27425403|PMID:27433846|PMID:27463008|PMID:27495310|PMID:27535533|PMID:27553291|PMID:27741520|PMID:27831900|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28049106|PMID:28050010|PMID:28091860|PMID:28111427|PMID:28123851|PMID:28145423|PMID:28176296|PMID:28184945|PMID:28194609|PMID:28283652|PMID:28285342|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28525389|PMID:28528518|PMID:28715532|PMID:28724667|PMID:28740454|PMID:28781887|PMID:28831036|PMID:28993434|PMID:29021639|PMID:29053726|PMID:29116469|PMID:29161300|PMID:29176636|PMID:29280214|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29360161|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29550896|PMID:29625052|PMID:29752822|PMID:29790872|PMID:29797126|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30014164|PMID:30067863|PMID:30078507|PMID:30113427|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30209399|PMID:30257646|PMID:30257991|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30458859|PMID:30489631|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30676620|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30765603|PMID:30875412|PMID:30962250|PMID:30979843|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31159747|PMID:31263571|PMID:31336956|PMID:31347298|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31411802|PMID:31447099|PMID:31454914|PMID:31528241|PMID:31825140|PMID:31851867|PMID:32039725|PMID:32058061|PMID:32123317|PMID:32125938|PMID:32231684|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32778078|PMID:32832836|PMID:32854451|PMID:32885271|PMID:33087888|PMID:33087929|PMID:33151324|PMID:33309985|PMID:33442023|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33558524|PMID:7611277|PMID:7663517|PMID:7795652|PMID:7837387|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8595420|PMID:8595428|PMID:8644702|PMID:8644703|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9145677|PMID:9150149|PMID:9150153|PMID:9150154|PMID:9333265|PMID:9525870|PMID:9536098|PMID:9634504|PMID:9663595|PMID:9667259|PMID:9760198|PMID:9805131|PMID:9836472 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9002762 Ovarian Neoplasms ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:10090881|PMID:10196379|PMID:10227398|PMID:10441573|PMID:10447273|PMID:10464624|PMID:10486320|PMID:10502781|PMID:10528853|PMID:10615237|PMID:10644434|PMID:10739756|PMID:10788334|PMID:10811118|PMID:10885601|PMID:11030418|PMID:11102986|PMID:11157798|PMID:11179017|PMID:11251181|PMID:11278247|PMID:11320250|PMID:11389159|PMID:11391658|PMID:11410501|PMID:11462242|PMID:11466700|PMID:11504767|PMID:11597388|PMID:11606101|PMID:11710890|PMID:11739404|PMID:11802209|PMID:11844822|PMID:11896095|PMID:11920621|PMID:11938448|PMID:12097257|PMID:12112655|PMID:12125210|PMID:12181777|PMID:12204006|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12491499|PMID:12505256|PMID:12566964|PMID:12601471|PMID:12655560|PMID:12672316|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12810666|PMID:12827452|PMID:12938098|PMID:12955716|PMID:14534301|PMID:14576434|PMID:14647443|PMID:14760071|PMID:14986830|PMID:15024741|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15172985|PMID:15217508|PMID:15235020|PMID:15290653|PMID:15365993|PMID:15383404|PMID:15569676|PMID:15712267|PMID:15865297|PMID:15876480|PMID:15951956|PMID:15951958|PMID:15994883|PMID:16030426|PMID:16168118|PMID:16227521|PMID:16267036|PMID:16403807|PMID:16489001|PMID:16515586|PMID:16528604|PMID:16541315|PMID:16615107|PMID:16644204|PMID:16683254|PMID:16777318|PMID:16847550|PMID:16998791|PMID:17148771|PMID:17221156|PMID:17307836|PMID:17308087|PMID:17576681|PMID:17591843|PMID:17688236|PMID:18036263|PMID:18159056|PMID:18228134|PMID:18413725|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18627636|PMID:18680205|PMID:18694767|PMID:18703817|PMID:18762988|PMID:18763032|PMID:18783588|PMID:18824701|PMID:18940477|PMID:18980973|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19359128|PMID:19370767|PMID:19563646|PMID:19594371|PMID:19770520|PMID:19941162|PMID:19949876|PMID:19996028|PMID:20051372|PMID:20103620|PMID:20104584|PMID:20180014|PMID:20189727|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20455026|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20683152|PMID:20727672|PMID:20730485|PMID:20807450|PMID:20950396|PMID:21119707|PMID:21120943|PMID:21147198|PMID:21203900|PMID:21232165|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21702907|PMID:21709188|PMID:21729660|PMID:21735045|PMID:21769658|PMID:21834074|PMID:21922593|PMID:21946536|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22034289|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22430266|PMID:22434525|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22666503|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22843421|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23110154|PMID:23161852|PMID:23164213|PMID:23199084|PMID:23232912|PMID:23239986|PMID:23289006|PMID:23469205|PMID:23479189|PMID:23536787|PMID:23683081|PMID:23697973|PMID:23704984|PMID:23747895|PMID:23867111|PMID:23954390|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24131973|PMID:24218521|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24504028|PMID:24618965|PMID:24667779|PMID:24728189|PMID:24737347|PMID:24827135|PMID:24884479|PMID:24916970|PMID:25036526|PMID:25066507|PMID:25085752|PMID:25186627|PMID:25330149|PMID:25400221|PMID:25452441|PMID:25476495|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25724305|PMID:25741868|PMID:25777348|PMID:25782689|PMID:25823446|PMID:25850536|PMID:25863477|PMID:25880076|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26014432|PMID:26028024|PMID:26083025|PMID:26187060|PMID:26219728|PMID:26287763|PMID:26295337|PMID:26350514|PMID:26440929|PMID:26467025|PMID:26541979|PMID:26556299|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26845104|PMID:26848529|PMID:26852130|PMID:27062684|PMID:27067391|PMID:27153395|PMID:27157322|PMID:27167707 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9002762 Ovarian Neoplasms ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:27257965|PMID:27272900|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27495310|PMID:27535533|PMID:27553291|PMID:27656653|PMID:27741520|PMID:27831900|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28049106|PMID:28050010|PMID:28091860|PMID:28111427|PMID:28123851|PMID:28145423|PMID:28176296|PMID:28184945|PMID:28194609|PMID:28283652|PMID:28285342|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28525389|PMID:28528518|PMID:28715532|PMID:28724667|PMID:28740454|PMID:28781887|PMID:28831036|PMID:28993434|PMID:29021639|PMID:29053726|PMID:29116469|PMID:29161300|PMID:29176636|PMID:29280214|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29360161|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29550896|PMID:29625052|PMID:29752822|PMID:29790872|PMID:29797126|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30014164|PMID:30067863|PMID:30078507|PMID:30113427|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30209399|PMID:30257646|PMID:30257991|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30458859|PMID:30489631|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30676620|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30765603|PMID:30875412|PMID:30962250|PMID:30979843|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31159747|PMID:31263571|PMID:31336956|PMID:31347298|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31411802|PMID:31447099|PMID:31454914|PMID:31528241|PMID:31825140|PMID:31851867|PMID:31911673|PMID:32039725|PMID:32058061|PMID:32123317|PMID:32125938|PMID:32231684|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32778078|PMID:32832836|PMID:32854451|PMID:32885271|PMID:33087888|PMID:33087929|PMID:33151324|PMID:33309985|PMID:33442023|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33558524|PMID:36988593|PMID:7611277|PMID:7663517|PMID:7795652|PMID:7837387|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8595420|PMID:8595428|PMID:8644702|PMID:8644703|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9145677|PMID:9150149|PMID:9150153|PMID:9150154|PMID:9333265|PMID:9525870|PMID:9536098|PMID:9634504|PMID:9663595|PMID:9667259|PMID:9760198|PMID:9805131|PMID:9836472 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9004203 Chromosome Breakage ISO RGD:69132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15894690 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9004232 Fanconi Anemia Complementation Group S ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP S | ClinVar Annotator: match by term: Fanconi anemia, complementation group S PMID:10090881|PMID:10359546|PMID:10447273|PMID:10464624|PMID:10486320|PMID:10615237|PMID:10739756|PMID:10788334|PMID:10811118|PMID:10866029|PMID:10885601|PMID:11102986|PMID:11157798|PMID:11179017|PMID:11251181|PMID:11278247|PMID:11320250|PMID:11389159|PMID:11391658|PMID:11410501|PMID:11466700|PMID:11504767|PMID:11597388|PMID:11739404|PMID:11802209|PMID:11896095|PMID:11920621|PMID:11956590|PMID:12125210|PMID:12204006|PMID:12354934|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12496476|PMID:12566964|PMID:12601471|PMID:12698193|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12810666|PMID:12827452|PMID:12938098|PMID:12955716|PMID:14517958|PMID:14534301|PMID:14576434|PMID:14760071|PMID:14986830|PMID:15004537|PMID:15024741|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146557|PMID:15172985|PMID:15235020|PMID:15290653|PMID:15365993|PMID:15383404|PMID:15569676|PMID:15876480|PMID:15951956|PMID:15994883|PMID:16030426|PMID:16168118|PMID:16227521|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16403807|PMID:16455195|PMID:16489001|PMID:16515586|PMID:16528604|PMID:16541315|PMID:16644204|PMID:16683254|PMID:16998791|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17369502|PMID:17574969|PMID:17591843|PMID:17645508|PMID:17924331|PMID:18036263|PMID:18285836|PMID:18413725|PMID:18446624|PMID:18465347|PMID:18627636|PMID:18680205|PMID:18694767|PMID:18762988|PMID:18763032|PMID:18783588|PMID:18824701|PMID:18940477|PMID:19200354|PMID:19208665|PMID:19359128|PMID:19563646|PMID:19594371|PMID:19770520|PMID:19949876|PMID:19996028|PMID:20103620|PMID:20104584|PMID:20180014|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20455026|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20683152|PMID:20727672|PMID:20730485|PMID:21119707|PMID:21232165|PMID:21324516|PMID:21348412|PMID:21356067|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21523855|PMID:21702907|PMID:21709188|PMID:21725363|PMID:21735045|PMID:21834074|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22430266|PMID:22476429|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22666503|PMID:22711857|PMID:22713736|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22843421|PMID:22889855|PMID:23110154|PMID:23161852|PMID:23164213|PMID:23199084|PMID:23232912|PMID:23239986|PMID:23269703|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23580280|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23867111|PMID:23954390|PMID:24033266|PMID:24055113|PMID:24131973|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24489791|PMID:24504028|PMID:24549055|PMID:24569164|PMID:24667779|PMID:24728189|PMID:24737347|PMID:24845084|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25256238|PMID:25330149|PMID:25371446|PMID:25400221|PMID:25452441|PMID:25472942|PMID:25525159|PMID:25556971|PMID:25682074|PMID:25741868|PMID:25748678|PMID:25782689|PMID:25823446|PMID:25863477|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26026974|PMID:26028024|PMID:26083025|PMID:26187060|PMID:2618727|PMID:26219728|PMID:26236408|PMID:26287763|PMID:26295337|PMID:26350514|PMID:26440929|PMID:26467025|PMID:26541979|PMID:26556299|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26786923|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852130|PMID:26884819|PMID:26913838|PMID:27062684|PMID:27083775|PMID:27153395|PMID:27257965|PMID:27272900|PMID:27425403|PMID:27433846|PMID:27495310|PMID:27553291|PMID:27741520|PMID:27836010|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28176296|PMID:28265380|PMID:28283652|PMID:28285342|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28490613|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28528518|PMID:28724667|PMID:28781887|PMID:28831036|PMID:28993434|PMID:29021639|PMID:29061375|PMID:29116469|PMID:29133208|PMID:29161300 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9004232 Fanconi Anemia Complementation Group S ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP S | ClinVar Annotator: match by term: Fanconi anemia, complementation group S PMID:29280214|PMID:29297111|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29360161|PMID:29433453|PMID:29446198|PMID:29478780|PMID:29492181|PMID:29625052|PMID:29712865|PMID:29790872|PMID:29797126|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30209399|PMID:30219179|PMID:30257991|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30458859|PMID:30489631|PMID:30606148|PMID:30613976|PMID:30676620|PMID:30702160|PMID:30720863|PMID:30765603|PMID:30825404|PMID:30875412|PMID:30962250|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31159747|PMID:31209999|PMID:31263571|PMID:31341520|PMID:31347298|PMID:31360904|PMID:31368036|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31528241|PMID:31825140|PMID:31851867|PMID:31871297|PMID:32039725|PMID:32058061|PMID:32123317|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32658311|PMID:32719484|PMID:32854451|PMID:32885271|PMID:33087888|PMID:33098347|PMID:33309985|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33646313|PMID:34413315|PMID:36988593|PMID:7493024|PMID:7663517|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8554067|PMID:8595428|PMID:8606385|PMID:8644702|PMID:8644703|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9333265|PMID:9482581|PMID:9525870|PMID:9634504|PMID:9663595|PMID:9667259|PMID:9760198|PMID:9805131|PMID:9836472 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9004232 Fanconi Anemia Complementation Group S susceptibility ISO RGD:69132 D RGD:7240710 20230517 OMIM 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2218 D RGD:9068941 20200609 RGD PMID:12203372|REF_RGD_ID:1599502 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12203372|PMID:22767648 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69132 D RGD:9068941 20200609 RGD PMID:17505536|REF_RGD_ID:2293155 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9005233 Experimental Mammary Neoplasms susceptibility ISO RGD:10246 D RGD:9068941 20200609 RGD PMID:18443292|REF_RGD_ID:2293149 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12810666|PMID:12815598|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16172191|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17545591|PMID:17550235|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20016594 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20437199|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21461827|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096355|PMID:23110154|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24082139|PMID:24094589 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24104880|PMID:24131973|PMID:24137399|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27854218|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31959133|PMID:32008151|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32123317|PMID:32125938|PMID:32195105|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32420470|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32719484|PMID:32772980|PMID:32806537|PMID:32812259|PMID:32856854|PMID:32866190|PMID:32885271|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33630411|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12810666|PMID:12815598|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15447980|PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16172191|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17545591|PMID:17550235|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20437199|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21461827|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096355|PMID:23110154|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24082139 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:32008151|PMID:32025337|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32571788|PMID:32599251|PMID:32709856|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32854451|PMID:32856854|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33468216|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33720054|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34749799|PMID:35300142|PMID:35535697|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:32008151|PMID:32025337|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32571788|PMID:32599251|PMID:32709856|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32854451|PMID:32856854|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33468216|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33720054|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34749799|PMID:34981296|PMID:35053526|PMID:35300142|PMID:35535697|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12947551|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:22461402|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26452128|PMID:26467025|PMID:26479420|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30979843|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32050665|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34063308|PMID:34072659|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34453642|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35281878 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:35300142|PMID:35402282|PMID:35535697|PMID:35659930|PMID:35681111|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9228952|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12947551|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19353265|PMID:19359128|PMID:19367322 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:22461402|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26452128|PMID:26467025|PMID:26479420|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30979843|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35875314|PMID:35980532|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9228952|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12894890|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12947551|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19339519|PMID:19340607|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21270786|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21716271|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:22461402|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23698643|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25974703|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26452128|PMID:26467025|PMID:26479420|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27381626|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27981572|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29614442 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30979843|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35875314|PMID:35980532|PMID:36385762|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9228952|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11941481|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12894890|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12947551|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19329713|PMID:19339519|PMID:19340607|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:22461402|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912|PMID:23233716 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26452128|PMID:26467025|PMID:26479420|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27381626|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30979843|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34917121|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35264596|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35535697|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35864222|PMID:35875314|PMID:35980532|PMID:36171434|PMID:36329109|PMID:36385762|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9228952|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:69132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22048643 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:24845084|PMID:24884479|PMID:24916970|PMID:24961674|PMID:25007954|PMID:25041116|PMID:2504116|PMID:25085752|PMID:25256238|PMID:25337278|PMID:25366075|PMID:25400221|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25480878|PMID:25525159|PMID:25637381|PMID:25652403|PMID:25682074|PMID:25741868|PMID:25748678|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25880076|PMID:25896959|PMID:25939603|PMID:26010302|PMID:26026974|PMID:26028024|PMID:26083025|PMID:26183948|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26332594|PMID:26344711|PMID:26402875|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26656232|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26779294|PMID:26780556|PMID:26824983|PMID:26843898|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26911350|PMID:27062684|PMID:27081505|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27257965|PMID:27272900|PMID:27300552|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27553291|PMID:27658390|PMID:27683183|PMID:27741520|PMID:27836010|PMID:27907908|PMID:27914478|PMID:27978560|PMID:28024868|PMID:28111427|PMID:28127413|PMID:28176296|PMID:28179634|PMID:28199346|PMID:28222693|PMID:28263838|PMID:28294317|PMID:28324225|PMID:28364669|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28492532|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28781887|PMID:28828701|PMID:28831036|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29088781|PMID:29116469|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29263802|PMID:29280214|PMID:29309945|PMID:29310832|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360550|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29566657|PMID:29681614|PMID:29687286|PMID:29752822|PMID:29770616|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29907814|PMID:29998185|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30111351|PMID:30128899|PMID:30152102|PMID:30209399|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30415210|PMID:30458859|PMID:30535581|PMID:30555256|PMID:30606148|PMID:30630528|PMID:30702160|PMID:30720863|PMID:30725392|PMID:30765603|PMID:30787465|PMID:30840646|PMID:30972954|PMID:30982232|PMID:31065452|PMID:31131967|PMID:31248605|PMID:31263571|PMID:31294896|PMID:31360874|PMID:31464824|PMID:31477031|PMID:31742824|PMID:3175448|PMID:31815095|PMID:31825140|PMID:31867841|PMID:32068069|PMID:32295079|PMID:32380732|PMID:32467295|PMID:33413596|PMID:33471991|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7257965|PMID:7493024|PMID:7581445|PMID:7627958|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8531968|PMID:8554067|PMID:8595420|PMID:8644703|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8933332|PMID:8968102|PMID:9042909|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9197534|PMID:9361038|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9544766|PMID:9609997|PMID:9663595|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:23364291|PMID:23397983|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23536787|PMID:23555315|PMID:23633455|PMID:23683081|PMID:23704879|PMID:23704984|PMID:23767878|PMID:23867111|PMID:23954390|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24131973|PMID:24218521|PMID:24249303|PMID:24312913|PMID:24319668|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24578176|PMID:24667779|PMID:24719479|PMID:24728327|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24884479|PMID:24916970|PMID:24961674|PMID:25007954|PMID:25041116|PMID:2504116|PMID:25085752|PMID:25256238|PMID:25337278|PMID:25366075|PMID:25400221|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25480878|PMID:25525159|PMID:25637381|PMID:25652403|PMID:25682074|PMID:25741868|PMID:25748678|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25880076|PMID:25896959|PMID:25927356|PMID:25939603|PMID:25974703|PMID:25980754|PMID:26010302|PMID:26026974|PMID:26028024|PMID:26083025|PMID:26183948|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26332594|PMID:26344711|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26656232|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26779294|PMID:26780556|PMID:26824983|PMID:26843898|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26911350|PMID:27062684|PMID:27081505|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27257965|PMID:27272900|PMID:27300552|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27553291|PMID:27658390|PMID:27683183|PMID:27741520|PMID:27767231|PMID:27831900|PMID:27836010|PMID:27844240|PMID:27907908|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28024868|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28127413|PMID:28176296|PMID:28179634|PMID:28199346|PMID:28222693|PMID:28263838|PMID:28285342|PMID:28294317|PMID:28324225|PMID:28364669|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28492532|PMID:28503720|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28781887|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28947987|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29088781|PMID:29116469|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29263802|PMID:29280214|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360550|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29566657|PMID:29625052|PMID:29681614|PMID:29687286|PMID:29752822|PMID:29770616|PMID:29785135|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30257991|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30489631|PMID:30535581|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30630528|PMID:30676620|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30832263|PMID:30840646|PMID:30875412|PMID:30972954|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31174498|PMID:31248605|PMID:31263571|PMID:31294896|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31447099|PMID:31454914|PMID:31464824|PMID:31477031|PMID:31528241|PMID:31742824|PMID:3175448|PMID:31815095|PMID:31825140|PMID:31851867|PMID:31867841|PMID:31908633|PMID:31911673|PMID:31957001|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32380732|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32817299|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32894085|PMID:33087888|PMID:33087929 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:33151324|PMID:33413596|PMID:33442023|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33726785|PMID:34981296|PMID:35402282|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7257965|PMID:7493024|PMID:7581445|PMID:7627958|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8531967|PMID:8531968|PMID:8554067|PMID:8595420|PMID:8644703|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8933332|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9197534|PMID:9361038|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9544766|PMID:9609997|PMID:9634504|PMID:9663595|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:10090881|PMID:10227398|PMID:10340909|PMID:10389907|PMID:10447273|PMID:10464624|PMID:10480351|PMID:10486320|PMID:10635334|PMID:10728699|PMID:10737987|PMID:10739756|PMID:10788334|PMID:10811118|PMID:10882858|PMID:10885601|PMID:10918303|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11278247|PMID:11320250|PMID:11389159|PMID:11466700|PMID:11506493|PMID:11526114|PMID:11573085|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11802208|PMID:11802209|PMID:11857748|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11956590|PMID:12068003|PMID:12070551|PMID:12125210|PMID:12142080|PMID:12181777|PMID:12183412|PMID:12204006|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12442274|PMID:12491487|PMID:12491499|PMID:12496477|PMID:12531920|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12698193|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12810666|PMID:12827452|PMID:12915465|PMID:12938098|PMID:12955716|PMID:14517958|PMID:14531499|PMID:14534301|PMID:14576432|PMID:14576434|PMID:14760071|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15235020|PMID:15290653|PMID:15340362|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15515971|PMID:15569676|PMID:15689452|PMID:15726418|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15923272|PMID:15951956|PMID:15994883|PMID:16014699|PMID:16030099|PMID:16030426|PMID:16168118|PMID:16199547|PMID:16227521|PMID:16267036|PMID:16403807|PMID:16455195|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16541315|PMID:16616110|PMID:16644204|PMID:16683254|PMID:16758124|PMID:16760288|PMID:16998791|PMID:17080309|PMID:17221156|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17453335|PMID:17591842|PMID:17591843|PMID:17645508|PMID:17680524|PMID:17719744|PMID:17851763|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17972177|PMID:17990525|PMID:18006916|PMID:18036263|PMID:18159056|PMID:18176857|PMID:18215206|PMID:18273839|PMID:18284688|PMID:18375895|PMID:18415037|PMID:18431501|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18627636|PMID:18680205|PMID:18694767|PMID:18703817|PMID:18762988|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18936166|PMID:18940477|PMID:19016756|PMID:19098453|PMID:19200354|PMID:19208665|PMID:19287957|PMID:19359128|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19491284|PMID:19504351|PMID:19543972|PMID:19563646|PMID:19594371|PMID:19619314|PMID:19638463|PMID:19770520|PMID:19949876|PMID:19996028|PMID:20103620|PMID:20104584|PMID:20167696|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20215541|PMID:20301425|PMID:20345474|PMID:20378548|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20614009|PMID:20683152|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21119707|PMID:21120943|PMID:21147198|PMID:21203900|PMID:21218378|PMID:21232165|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21503673|PMID:21520273|PMID:2152385|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21702907|PMID:21709188|PMID:21725363|PMID:21769658|PMID:21834074|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22399190|PMID:22430266|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22516946|PMID:22535016|PMID:22652532|PMID:22666503|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22776961|PMID:22798144|PMID:22843421|PMID:22875147|PMID:22923021|PMID:22970155|PMID:23064986|PMID:23161852|PMID:23175448|PMID:23199084|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23289006|PMID:23364291 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:23397983|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23536787|PMID:23555315|PMID:23633455|PMID:23683081|PMID:23704879|PMID:23704984|PMID:23767878|PMID:23867111|PMID:23954390|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24131973|PMID:24218521|PMID:24249303|PMID:24312913|PMID:24319668|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24578176|PMID:24667779|PMID:24719479|PMID:24728327|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24884479|PMID:24916970|PMID:24961674|PMID:25007954|PMID:25041116|PMID:2504116|PMID:25085752|PMID:25256238|PMID:25337278|PMID:25366075|PMID:25400221|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25480878|PMID:25525159|PMID:25637381|PMID:25652403|PMID:25682074|PMID:25741868|PMID:25748678|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25880076|PMID:25896959|PMID:25927356|PMID:25939603|PMID:25980754|PMID:26010302|PMID:26026974|PMID:26028024|PMID:26083025|PMID:26183948|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26332594|PMID:26344711|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26656232|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26779294|PMID:26780556|PMID:26824983|PMID:26843898|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26911350|PMID:27062684|PMID:27081505|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27257965|PMID:27272900|PMID:27300552|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27553291|PMID:27658390|PMID:27683183|PMID:27741520|PMID:27767231|PMID:27831900|PMID:27836010|PMID:27844240|PMID:27907908|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28024868|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28127413|PMID:28176296|PMID:28179634|PMID:28199346|PMID:28222693|PMID:28263838|PMID:28285342|PMID:28294317|PMID:28324225|PMID:28364669|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28492532|PMID:28503720|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28781887|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28947987|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29088781|PMID:29116469|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29263802|PMID:29280214|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360550|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29566657|PMID:29625052|PMID:29681614|PMID:29687286|PMID:29752822|PMID:29770616|PMID:29785135|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30257991|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30489631|PMID:30535581|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30630528|PMID:30676620|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30832263|PMID:30840646|PMID:30875412|PMID:30972954|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31174498|PMID:31214711|PMID:31248605|PMID:31263571|PMID:31294896|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31447099|PMID:31454914|PMID:31464824|PMID:31477031|PMID:31528241|PMID:31742824|PMID:3175448|PMID:31815095|PMID:31825140|PMID:31851867|PMID:31867841|PMID:31908633|PMID:31911673|PMID:31957001|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32380732|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32817299|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32894085|PMID:33087888|PMID:33087929|PMID:33151324 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:33413596|PMID:33442023|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33726785|PMID:34301763|PMID:34981296|PMID:35402282|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7257965|PMID:7493024|PMID:7581445|PMID:7627958|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8531967|PMID:8531968|PMID:8554067|PMID:8595420|PMID:8644703|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8933332|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9197534|PMID:9361038|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9544766|PMID:9609997|PMID:9634504|PMID:9663595|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10447273|PMID:10464624|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10508480|PMID:10528853|PMID:10571952|PMID:10595255|PMID:10615237|PMID:10634513|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10686936|PMID:10699917|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10874312|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10951344|PMID:10980541|PMID:10984458|PMID:11030417|PMID:11039575|PMID:11044644|PMID:11102986|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11250694|PMID:11251181|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11504767|PMID:11526114|PMID:11573085|PMID:11573086|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11733976|PMID:11739404|PMID:11773283|PMID:11802208|PMID:11802209|PMID:11844822|PMID:11873550|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11938448|PMID:11956590|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12125210|PMID:12142080|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12442274|PMID:12442275|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12810666|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12894890|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12938098|PMID:12947551|PMID:12955716|PMID:12960223|PMID:14517958|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14576434|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14732925|PMID:14757871|PMID:14760071|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15591272|PMID:15617999|PMID:15689452|PMID:15726418|PMID:15744030|PMID:15744044|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16084575|PMID:16103107|PMID:16140926|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16485136|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16541315|PMID:16544996|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16715518|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16764716|PMID:16772120|PMID:16786532|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17221156|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17493881|PMID:17513806|PMID:17557253|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591843|PMID:17645508|PMID:17646271|PMID:17719744|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18060491|PMID:18060494|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18228134|PMID:18273839|PMID:18284688|PMID:18334730|PMID:18375895|PMID:18413725|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18546071|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18936166|PMID:18940477|PMID:18951446|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19276368|PMID:19287957|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19370767|PMID:19404736|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19543972|PMID:19563646|PMID:19594371|PMID:19619314|PMID:19638463|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19770520|PMID:19805903|PMID:19818148|PMID:19863560|PMID:19941162|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20033483|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20215541|PMID:20232141|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20455026|PMID:20507347|PMID:20516115|PMID:20526115|PMID:20569256|PMID:20614009|PMID:20616022|PMID:20638108|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20730485|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21348412|PMID:21356067|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21614564|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21720365|PMID:21725363|PMID:2173504|PMID:21735045|PMID:21769658|PMID:21834074|PMID:21859355|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22044689|PMID:2206311|PMID:22078348|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22469508|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22843421|PMID:22848303|PMID:22889855|PMID:22923021|PMID:22970155|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:23341105|PMID:23348723|PMID:23374397|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23767878|PMID:23772696|PMID:23867111|PMID:23884708|PMID:23893897|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24131973|PMID:24212087|PMID:24218521|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24326041|PMID:24333842|PMID:24372583|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24797986|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:24961674|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:25066507|PMID:25085752|PMID:25186627|PMID:25236687|PMID:25256238|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25371446|PMID:25400221|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25480878|PMID:25525159|PMID:25556971|PMID:25628955|PMID:25637381|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25716084|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25880076|PMID:25896959|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26026974|PMID:26028024|PMID:26075997|PMID:26083025|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26332594|PMID:26334176|PMID:26350514|PMID:26402875|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26556299|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26778126|PMID:26779294|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083775|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27167707|PMID:27208206|PMID:27257965|PMID:27272900|PMID:27300552|PMID:27328445|PMID:27376475|PMID:27381626|PMID:27383479|PMID:27393621|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27658390|PMID:27683183|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27831900|PMID:27836010|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28024868|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28265380|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28364669|PMID:28414925|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28528518|PMID:28588830|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28831036|PMID:28873162|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28985766|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29088781|PMID:29093764|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29470806 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:29478780|PMID:29486991|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29884136|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30040829|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30214756|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30489631|PMID:30535581|PMID:30555256|PMID:30564348|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30927251|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31248605|PMID:31263571|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31341520|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31447071|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31565484|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31742824|PMID:31780705|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31957001|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32195105|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32380732|PMID:32420470|PMID:32426482|PMID:32438681|PMID:32467295|PMID:32495382|PMID:32546644|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32803532|PMID:32817299|PMID:32832836|PMID:32854451|PMID:32862574|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33067490|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33151324|PMID:33206196|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33442023|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33875706|PMID:33888336|PMID:34026625|PMID:34072659|PMID:34196900|PMID:34290354|PMID:34657373|PMID:34749799|PMID:34981296|PMID:35300142|PMID:35402282|PMID:35464868|PMID:36988593|PMID:7493024|PMID:7606717|PMID:7611277|PMID:7663517|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8606385|PMID:8644702|PMID:8644703|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8875986|PMID:8933332|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9333265|PMID:9361038|PMID:9391879|PMID:9440731|PMID:9452076|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9536098|PMID:9544766|PMID:9585599|PMID:9609997|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9667259|PMID:9677103|PMID:9699640|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9836472 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9256 colorectal cancer ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:30209399 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9256 colorectal cancer disease_progression ISO RGD:69132 D RGD:9068941 20210430 RGD PMID:16533773|REF_RGD_ID:126790575 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9256 colorectal cancer onset ISO RGD:69132 D RGD:9068941 20210521 RGD PMID:20862552|REF_RGD_ID:126925961 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9261 nasopharynx carcinoma ISO RGD:69132 D RGD:9068941 20210604 RGD DNA:nonsense mutation: :p.Q563* (human) PMID:28857155|REF_RGD_ID:127229936 11890781 BRCA1 BRCA1 DNA repair associated gene DOID:9460 uterine corpus cancer ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:10811118|PMID:11157798|PMID:11739404|PMID:12400015|PMID:15024741|PMID:16267036|PMID:20104584|PMID:21203900|PMID:21922593|PMID:24504028|PMID:25741868|PMID:26467025|PMID:27469594|PMID:28492532|PMID:29446198|PMID:29681614|PMID:30209399|PMID:7894493|PMID:8807330|PMID:9667259 11890805 PEX5 peroxisomal biogenesis factor 5 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1316906 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11890805 PEX5 peroxisomal biogenesis factor 5 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1316906 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder due to PEX5 defect PMID:25741868 11890805 PEX5 peroxisomal biogenesis factor 5 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1316906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11890805 PEX5 peroxisomal biogenesis factor 5 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1316906 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) PMID:25741868|PMID:28492532|PMID:32901917|PMID:33584783|PMID:35346031 11890805 PEX5 peroxisomal biogenesis factor 5 gene DOID:0080477 peroxisome biogenesis disorder 2A ISO RGD:1316906 D RGD:7240710 20180130 OMIM 11890805 PEX5 peroxisomal biogenesis factor 5 gene DOID:0080477 peroxisome biogenesis disorder 2A ISO RGD:1316906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2A (Zellweger) PMID:17576681|PMID:18712838|PMID:21031596|PMID:25741868|PMID:26344566|PMID:28492532|PMID:32901917|PMID:33584783|PMID:35346031|PMID:7719337|PMID:9536098 11890805 PEX5 peroxisomal biogenesis factor 5 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1316906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11890805 PEX5 peroxisomal biogenesis factor 5 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1316906 D RGD:7240710 20180130 OMIM 11890805 PEX5 peroxisomal biogenesis factor 5 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1316906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:16199547|PMID:17576681|PMID:18712838|PMID:21031596|PMID:25741868|PMID:26344566|PMID:27290639|PMID:28492532|PMID:32901917|PMID:33584783|PMID:35346031|PMID:7719337|PMID:9536098 11890805 PEX5 peroxisomal biogenesis factor 5 gene DOID:0110854 rhizomelic chondrodysplasia punctata type 5 ISO RGD:1316906 D RGD:7240710 20180130 OMIM 11890805 PEX5 peroxisomal biogenesis factor 5 gene DOID:0110854 rhizomelic chondrodysplasia punctata type 5 ISO RGD:1316906 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 PMID:25741868|PMID:26220973|PMID:28492532 11890805 PEX5 peroxisomal biogenesis factor 5 gene DOID:0111621 Temtamy syndrome ISO RGD:1316906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11890805 PEX5 peroxisomal biogenesis factor 5 gene DOID:10907 microcephaly ISO RGD:1316906 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:32901917|PMID:33584783|PMID:35346031 11890805 PEX5 peroxisomal biogenesis factor 5 gene DOID:2580 rhizomelic chondrodysplasia punctata ISO RGD:1316906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata PMID:26220973 11890805 PEX5 peroxisomal biogenesis factor 5 gene DOID:630 genetic disease ISO RGD:1316906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:32901917|PMID:33584783|PMID:35346031|PMID:9536098 11890805 PEX5 peroxisomal biogenesis factor 5 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1316906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11890805 PEX5 peroxisomal biogenesis factor 5 gene DOID:905 Zellweger syndrome ISO RGD:1316907 D RGD:9068941 20200609 RGD PMID:11583975|PMID:28866057|PMID:9288097|REF_RGD_ID:13207457|REF_RGD_ID:25440483|REF_RGD_ID:25440485 11890805 PEX5 peroxisomal biogenesis factor 5 gene DOID:906 peroxisomal disease ISO RGD:1316907 D RGD:9068941 20200609 RGD PMID:15732085|REF_RGD_ID:13207458 11890805 PEX5 peroxisomal biogenesis factor 5 gene DOID:9452 fatty liver disease ISO RGD:1316907 D RGD:9068941 20200609 RGD PMID:21756965|REF_RGD_ID:25440484 11890841 OLR1 oxidized low density lipoprotein receptor 1 gene DOID:0050700 cardiomyopathy ISO RGD:731042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16055083 11890841 OLR1 oxidized low density lipoprotein receptor 1 gene DOID:10763 hypertension ISO RGD:620515 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta (rat) PMID:9494115|REF_RGD_ID:633385 11890841 OLR1 oxidized low density lipoprotein receptor 1 gene DOID:10763 hypertension ISO RGD:731042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 11890841 OLR1 oxidized low density lipoprotein receptor 1 gene DOID:3393 coronary artery disease severity ISO RGD:731042 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.K167N (human) PMID:15562935|REF_RGD_ID:1580994 11890841 OLR1 oxidized low density lipoprotein receptor 1 gene DOID:3393 coronary artery disease severity ISO RGD:731042 D RGD:9068941 20200609 RGD DNA:snp:3' utr:T>C (human) PMID:12810610|REF_RGD_ID:1580995 11890841 OLR1 oxidized low density lipoprotein receptor 1 gene DOID:5844 myocardial infarction ISO RGD:731042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:12646194|PMID:12810610|PMID:14684693 11890841 OLR1 oxidized low density lipoprotein receptor 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:731042 D RGD:7240710 20190502 OMIM 11890841 OLR1 oxidized low density lipoprotein receptor 1 gene DOID:6000 congestive heart failure ISO RGD:731042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 11890841 OLR1 oxidized low density lipoprotein receptor 1 gene DOID:630 genetic disease ISO RGD:731042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11890841 OLR1 oxidized low density lipoprotein receptor 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:731042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11890841 OLR1 oxidized low density lipoprotein receptor 1 gene DOID:783 end stage renal disease ISO RGD:620515 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (rat) PMID:12661921|REF_RGD_ID:1580992 11890841 OLR1 oxidized low density lipoprotein receptor 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:620515 D RGD:9068941 20200609 RGD PMID:12384456|REF_RGD_ID:628368 11890841 OLR1 oxidized low density lipoprotein receptor 1 gene DOID:9246 cerebral amyloid angiopathy ISO RGD:731042 D RGD:9068941 20200609 RGD PMID:16328515|REF_RGD_ID:1580993 11890851 CA6 carbonic anhydrase 6 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1323700 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11890851 CA6 carbonic anhydrase 6 gene DOID:630 genetic disease ISO RGD:1323700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11890851 CA6 carbonic anhydrase 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11890871 POU3F3 POU class 3 homeobox 3 gene DOID:1059 intellectual disability ISO RGD:1349087 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31303265 11890871 POU3F3 POU class 3 homeobox 3 gene DOID:630 genetic disease ISO RGD:1349087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1565620|PMID:2044958|PMID:31303265 11890871 POU3F3 POU class 3 homeobox 3 gene DOID:8398 osteoarthritis ISO RGD:1349087 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 11890871 POU3F3 POU class 3 homeobox 3 gene DOID:9004310 Snijders Blok-Fisher Syndrome ISO RGD:1349087 D RGD:7240710 20191127 OMIM 11890871 POU3F3 POU class 3 homeobox 3 gene DOID:9004310 Snijders Blok-Fisher Syndrome ISO RGD:1349087 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Snijders blok-fisher syndrome PMID:25741868|PMID:30712878|PMID:31303265 11890871 POU3F3 POU class 3 homeobox 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 11890871 POU3F3 POU class 3 homeobox 3 gene DOID:9009154 Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills ISO RGD:1349087 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor language and loss of hand skills PMID:25741868 11890891 IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1349945 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11890891 IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta gene DOID:0110409 retinitis pigmentosa 46 ISO RGD:1349945 D RGD:7240710 20180130 OMIM 11890891 IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta gene DOID:0110409 retinitis pigmentosa 46 ISO RGD:1349945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 46 PMID:18806796|PMID:25741868|PMID:28492532|PMID:31736247 11890891 IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta gene DOID:10584 retinitis pigmentosa ISO RGD:1349945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 11890891 IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1349945 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11890891 IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta gene DOID:630 genetic disease ISO RGD:1349945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11890891 IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta gene DOID:9000217 Stomach Neoplasms ISO RGD:1349945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11890891 IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta gene DOID:9000918 Disease Progression ISO RGD:1349945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11890917 TLCD3A TLC domain containing 3A gene DOID:0111406 Fraser syndrome 3 ISO RGD:1605629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 11890917 TLCD3A TLC domain containing 3A gene DOID:630 genetic disease ISO RGD:1605629 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11890928 NRBP2 nuclear receptor binding protein 2 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1351329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11890928 NRBP2 nuclear receptor binding protein 2 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1351329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11890928 NRBP2 nuclear receptor binding protein 2 gene DOID:4621 holoprosencephaly ISO RGD:1351329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11890928 NRBP2 nuclear receptor binding protein 2 gene DOID:630 genetic disease ISO RGD:1351329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11890955 LOC100971412 putative zinc finger protein 812 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1625646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29054765 11890955 LOC100971412 putative zinc finger protein 812 gene DOID:9005172 Lung Neoplasms ISO RGD:1625646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29054765 11890973 COQ4 coenzyme Q4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312192 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11890973 COQ4 coenzyme Q4 gene DOID:0050952 spastic ataxia ISO RGD:1312192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25658047|PMID:25741868|PMID:26185144|PMID:28492532|PMID:32718099|PMID:33704555|PMID:34440436|PMID:34445196 11890973 COQ4 coenzyme Q4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1312192 D RGD:7240710 20180130 OMIM 11890973 COQ4 coenzyme Q4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1312192 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:16199547|PMID:17576681|PMID:22368301|PMID:25658047|PMID:25741868|PMID:26185144|PMID:26795593|PMID:27513193|PMID:28492532|PMID:28540186|PMID:30659264|PMID:31332438|PMID:31396399|PMID:32056211|PMID:32718099|PMID:32860008|PMID:33206935|PMID:33215859|PMID:33704555|PMID:34440436|PMID:34445196|PMID:9536098 11890973 COQ4 coenzyme Q4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312192 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11890973 COQ4 coenzyme Q4 gene DOID:630 genetic disease ISO RGD:1312192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25658047|PMID:25741868|PMID:26185144|PMID:26795593|PMID:27513193|PMID:28492532|PMID:32056211|PMID:32718099|PMID:33704555|PMID:34440436|PMID:34445196|PMID:9536098 11890973 COQ4 coenzyme Q4 gene DOID:9006534 Nervous System Malformations ISO RGD:1312192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:28492532|PMID:32860008|PMID:33215859 11890973 COQ4 coenzyme Q4 gene DOID:9008582 Developmental Disease ISO RGD:1312192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:32056211 11890989 MAP3K2 mitogen-activated protein kinase kinase kinase 2 gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:1354206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:28492532 11890989 MAP3K2 mitogen-activated protein kinase kinase kinase 2 gene DOID:0111220 centronuclear myopathy 2 ISO RGD:1354206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:28492532 11890989 MAP3K2 mitogen-activated protein kinase kinase kinase 2 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1354206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 11890989 MAP3K2 mitogen-activated protein kinase kinase kinase 2 gene DOID:630 genetic disease ISO RGD:1354206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891009 SLC19A3 solute carrier family 19 member 3 gene DOID:0050659 biotin-responsive basal ganglia disease ISO RGD:1322863 D RGD:7240710 20180130 OMIM 11891009 SLC19A3 solute carrier family 19 member 3 gene DOID:0050659 biotin-responsive basal ganglia disease ISO RGD:1322863 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Biotin-responsive basal ganglia disease | ClinVar Annotator: match by term: thiamine-responsive encephalopathy PMID:15871139|PMID:16199547|PMID:16790503|PMID:17576681|PMID:19387023|PMID:20065143|PMID:22777947|PMID:23423671|PMID:23482991|PMID:23589815|PMID:23742248|PMID:24166474|PMID:24372704|PMID:24667528|PMID:24957181|PMID:25741868|PMID:26077850|PMID:26443248|PMID:26467025|PMID:26657515|PMID:26863430|PMID:26938784|PMID:27290639|PMID:27749535|PMID:27841215|PMID:27896110|PMID:27905264|PMID:28492532|PMID:28518168|PMID:28832562|PMID:28856750|PMID:29101630|PMID:29236641|PMID:29453417|PMID:32034746|PMID:32461654|PMID:32679198|PMID:9536098 11891009 SLC19A3 solute carrier family 19 member 3 gene DOID:1059 intellectual disability ISO RGD:1322863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11891009 SLC19A3 solute carrier family 19 member 3 gene DOID:1826 epilepsy ISO RGD:1322863 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11891009 SLC19A3 solute carrier family 19 member 3 gene DOID:3652 Leigh disease ISO RGD:12390482 D RGD:9068941 20211008 OMIA Necrotising encephalopathy, subacute, of Leigh PMID:10664957|PMID:10912920|PMID:19466433|PMID:23469184|PMID:25117056|PMID:33081289|PMID:34544496|PMID:8844603 11891009 SLC19A3 solute carrier family 19 member 3 gene DOID:607 paraplegia ISO RGD:1322863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868 11891009 SLC19A3 solute carrier family 19 member 3 gene DOID:630 genetic disease ISO RGD:1322863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15871139|PMID:16790503|PMID:23423671|PMID:23482991|PMID:23742248|PMID:24166474|PMID:25741868|PMID:27749535|PMID:27905264|PMID:28402605|PMID:28492532|PMID:28518168|PMID:29236641|PMID:32461654 11891009 SLC19A3 solute carrier family 19 member 3 gene DOID:679 basal ganglia disease ISO RGD:1322863 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19387023 11891009 SLC19A3 solute carrier family 19 member 3 gene DOID:784 chronic kidney disease ISO RGD:1311413 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver, heart, jejunum (rat) PMID:21149507|REF_RGD_ID:7327184 11891033 LOC100975312 zinc finger protein 273 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11891033 LOC100975312 zinc finger protein 273 gene DOID:630 genetic disease ISO RGD:1351261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891041 FBLN5 fibulin 5 gene DOID:0070135 autosomal recessive cutis laxa type IA ISO RGD:736145 D RGD:7240710 20180130 OMIM 11891041 FBLN5 fibulin 5 gene DOID:0070135 autosomal recessive cutis laxa type IA ISO RGD:736145 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1A PMID:12189163|PMID:16374472|PMID:16652333|PMID:16691202|PMID:17035250|PMID:18185537|PMID:20007835|PMID:20599547|PMID:21576112|PMID:22829427|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29653220|PMID:3232707 11891041 FBLN5 fibulin 5 gene DOID:0070136 autosomal dominant cutis laxa 2 ISO RGD:736145 D RGD:7240710 20180130 OMIM 11891041 FBLN5 fibulin 5 gene DOID:0070136 autosomal dominant cutis laxa 2 ISO RGD:736145 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 2 PMID:12618961|PMID:21576112|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29653220 11891041 FBLN5 fibulin 5 gene DOID:0070142 autosomal dominant cutis laxa ISO RGD:736145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11891041 FBLN5 fibulin 5 gene DOID:0080054 achondrogenesis type IA ISO RGD:736145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11891041 FBLN5 fibulin 5 gene DOID:11162 respiratory failure ISO RGD:736145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189163 11891041 FBLN5 fibulin 5 gene DOID:11394 adult respiratory distress syndrome ISO RGD:736145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 11891041 FBLN5 fibulin 5 gene DOID:12377 spinal muscular atrophy ISO RGD:736145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proximal spinal muscular atrophy 11891041 FBLN5 fibulin 5 gene DOID:178 vascular disease ISO RGD:736145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189163 11891041 FBLN5 fibulin 5 gene DOID:2349 arteriosclerosis ISO RGD:736146 D RGD:9068941 20200609 RGD PMID:10428823|REF_RGD_ID:69830 11891041 FBLN5 fibulin 5 gene DOID:3144 cutis laxa ISO RGD:736145 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cutis Laxa, Dominant/Recessive | ClinVar Annotator: match by term: Cutis laxa PMID:15269314|PMID:16374472|PMID:16652333|PMID:17035250|PMID:19194475|PMID:20007835|PMID:20599547|PMID:21576112|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28765615|PMID:29653220 11891041 FBLN5 fibulin 5 gene DOID:4448 macular degeneration ISO RGD:736145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:24033266|PMID:28492532 11891041 FBLN5 fibulin 5 gene DOID:6000 congestive heart failure ISO RGD:736145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189163 11891041 FBLN5 fibulin 5 gene DOID:630 genetic disease ISO RGD:736145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 11891041 FBLN5 fibulin 5 gene DOID:6432 pulmonary hypertension ISO RGD:736145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189163 11891041 FBLN5 fibulin 5 gene DOID:7319 axonal neuropathy ISO RGD:736145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral axonal neuropathy PMID:25741868|PMID:28492532 11891041 FBLN5 fibulin 5 gene DOID:8501 fundus dystrophy ISO RGD:736145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 11891041 FBLN5 fibulin 5 gene DOID:9000848 Charcot-Marie-Tooth Disease Type 1H ISO RGD:736145 D RGD:7240710 20220316 OMIM 11891041 FBLN5 fibulin 5 gene DOID:9000848 Charcot-Marie-Tooth Disease Type 1H ISO RGD:736145 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1H | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION PMID:16652333|PMID:21576112|PMID:23328402|PMID:25741868|PMID:28332470|PMID:28492532|PMID:29653220|PMID:31945625|PMID:32757322 11891041 FBLN5 fibulin 5 gene DOID:9002034 Autosomal Recessive Cutis Laxa ISO RGD:736145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189163 11891041 FBLN5 fibulin 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17929269 11891041 FBLN5 fibulin 5 gene DOID:9002884 Emphysema ISO RGD:736145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189163 11891041 FBLN5 fibulin 5 gene DOID:9007916 Age Related Macular Degeneration 3 ISO RGD:736145 D RGD:7240710 20180130 OMIM 11891041 FBLN5 fibulin 5 gene DOID:9007916 Age Related Macular Degeneration 3 ISO RGD:736145 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Macular degeneration, age-related, 3 | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION PMID:15269314|PMID:16374472|PMID:16652333|PMID:17035250|PMID:19194475|PMID:20007835|PMID:20599547|PMID:21576112|PMID:23328402|PMID:24033266|PMID:25741868|PMID:28332470|PMID:28492532|PMID:28765615|PMID:29653220|PMID:31945625|PMID:32757322 11891041 FBLN5 fibulin 5 gene DOID:9008680 Respiratory Tract Infections ISO RGD:736145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189163 11891070 LOC100976242 histone H2A.J gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1343634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 11891070 LOC100976242 histone H2A.J gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1343634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 11891075 ATL2 atlastin GTPase 2 gene DOID:0080690 RASopathy ISO RGD:1312973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11891075 ATL2 atlastin GTPase 2 gene DOID:11211 buphthalmos ISO RGD:1312973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital glaucoma PMID:19234632|PMID:28492532|PMID:31251480|PMID:9097971|PMID:9497261 11891075 ATL2 atlastin GTPase 2 gene DOID:3883 Lynch syndrome ISO RGD:1312973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11891075 ATL2 atlastin GTPase 2 gene DOID:630 genetic disease ISO RGD:1312973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891094 STS steroid sulfatase gene DOID:0060041 autism spectrum disorder ISO RGD:735809 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11891094 STS steroid sulfatase gene DOID:0080600 COVID-19 ISO RGD:735809 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11891094 STS steroid sulfatase gene DOID:10763 hypertension ISO RGD:3783 D RGD:9068941 20200609 RGD protein:increased expression:multiple organs PMID:8539776|REF_RGD_ID:1601393 11891094 STS steroid sulfatase gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:735809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18413370 11891094 STS steroid sulfatase gene DOID:11383 cryptorchidism ISO RGD:3783 D RGD:9068941 20200609 RGD protein:increased expression:scrotum, testis PMID:2576297|REF_RGD_ID:1601402 11891094 STS steroid sulfatase gene DOID:12351 alcoholic hepatitis ISO RGD:735809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26220752 11891094 STS steroid sulfatase gene DOID:12849 autistic disorder ISO RGD:735809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11891094 STS steroid sulfatase gene DOID:13938 amenorrhea ISO RGD:735809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11891094 STS steroid sulfatase gene DOID:1700 X-linked ichthyosis ISO RGD:735809 D RGD:7240710 20180509 OMIM 11891094 STS steroid sulfatase gene DOID:1700 X-linked ichthyosis ISO RGD:735809 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ichthyosis, X-Linked | ClinVar Annotator: match by term: Placental steroid sulfatase deficiency | ClinVar Annotator: match by term: Recessive X-linked ichthyosis PMID:1539590|PMID:18413370|PMID:25741868|PMID:2668275|PMID:28492532|PMID:3007328|PMID:3032454|PMID:7208152|PMID:9252398 11891094 STS steroid sulfatase gene DOID:1969 cerebral palsy ISO RGD:735809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 11891094 STS steroid sulfatase gene DOID:5419 schizophrenia ISO RGD:735809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11891094 STS steroid sulfatase gene DOID:543 dystonia ISO RGD:735809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11891094 STS steroid sulfatase gene DOID:630 genetic disease ISO RGD:735809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11891094 STS steroid sulfatase gene DOID:7148 rheumatoid arthritis ISO RGD:735809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 11891094 STS steroid sulfatase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11891094 STS steroid sulfatase gene DOID:9004657 Weight Gain ISO RGD:735809 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24497646 11891094 STS steroid sulfatase gene DOID:9005372 Inflammation ISO RGD:735809 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24497646 11891094 STS steroid sulfatase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735809 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24497646 11891094 STS steroid sulfatase gene DOID:9007692 Insulin Resistance ISO RGD:735809 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24497646 11891094 STS steroid sulfatase gene DOID:9452 fatty liver disease ISO RGD:735809 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24497646 11891094 STS steroid sulfatase gene DOID:9970 obesity ISO RGD:735809 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24497646 11891107 SLC38A3 solute carrier family 38 member 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:730997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 11891107 SLC38A3 solute carrier family 38 member 3 gene DOID:0050758 metabolic acidosis treatment ISO RGD:628620 D RGD:9068941 20200609 RGD PMID:16954343|REF_RGD_ID:9999224 11891107 SLC38A3 solute carrier family 38 member 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:730997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 11891107 SLC38A3 solute carrier family 38 member 3 gene DOID:11832 visual epilepsy ISO RGD:628620 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:21138736|REF_RGD_ID:9999229 11891107 SLC38A3 solute carrier family 38 member 3 gene DOID:630 genetic disease ISO RGD:730997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891107 SLC38A3 solute carrier family 38 member 3 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:730997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11891107 SLC38A3 solute carrier family 38 member 3 gene DOID:9004423 Developmental and Epileptic Encephalopathy 102 ISO RGD:730997 D RGD:7240710 20220608 OMIM 11891107 SLC38A3 solute carrier family 38 member 3 gene DOID:9004423 Developmental and Epileptic Encephalopathy 102 ISO RGD:730997 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 102 PMID:25741868|PMID:31130284|PMID:34605855 11891107 SLC38A3 solute carrier family 38 member 3 gene DOID:9005930 Endotoxemia ISO RGD:628620 D RGD:9068941 20200609 RGD PMID:20036385|REF_RGD_ID:9999227 11891107 SLC38A3 solute carrier family 38 member 3 gene DOID:9007661 Dwarfism ISO RGD:730997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11891107 SLC38A3 solute carrier family 38 member 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:730997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11891140 UBQLNL ubiquilin like gene DOID:630 genetic disease ISO RGD:1605287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891144 WBP4 WW domain binding protein 4 gene DOID:630 genetic disease ISO RGD:1348548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891158 CYP2S1 cytochrome P450 family 2 subfamily S member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1314487 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11891158 CYP2S1 cytochrome P450 family 2 subfamily S member 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1314487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11891158 CYP2S1 cytochrome P450 family 2 subfamily S member 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1314487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11891158 CYP2S1 cytochrome P450 family 2 subfamily S member 1 gene DOID:2340 craniosynostosis ISO RGD:1314487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11891158 CYP2S1 cytochrome P450 family 2 subfamily S member 1 gene DOID:630 genetic disease ISO RGD:1314487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891158 CYP2S1 cytochrome P450 family 2 subfamily S member 1 gene DOID:8893 psoriasis ISO RGD:1314487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12711469 11891158 CYP2S1 cytochrome P450 family 2 subfamily S member 1 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1314487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11891158 CYP2S1 cytochrome P450 family 2 subfamily S member 1 gene DOID:9269 maple syrup urine disease ISO RGD:1314487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11891171 NRG2 neuregulin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1606028 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11891171 NRG2 neuregulin 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1606028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11891171 NRG2 neuregulin 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606028 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11891171 NRG2 neuregulin 2 gene DOID:630 genetic disease ISO RGD:1606028 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11891171 NRG2 neuregulin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1606028 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 11891171 NRG2 neuregulin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11891171 NRG2 neuregulin 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606028 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11891185 TIGD4 tigger transposable element derived 4 gene DOID:630 genetic disease ISO RGD:1314017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891191 DHRS7C dehydrogenase/reductase 7C gene DOID:630 genetic disease ISO RGD:1602060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891204 IZUMO2 IZUMO family member 2 gene DOID:630 genetic disease ISO RGD:1606978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891218 MFSD5 major facilitator superfamily domain containing 5 gene DOID:630 genetic disease ISO RGD:1605912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891231 ZDHHC18 zinc finger DHHC-type palmitoyltransferase 18 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1319625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 11891231 ZDHHC18 zinc finger DHHC-type palmitoyltransferase 18 gene DOID:630 genetic disease ISO RGD:1319625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891252 DAB2IP DAB2 interacting protein gene DOID:10126 keratoconus ISO RGD:732352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 11891252 DAB2IP DAB2 interacting protein gene DOID:10534 stomach cancer severity ISO RGD:732352 D RGD:9068941 20220311 RGD mRNA,protein:decreased expression:stomach (human) PMID:31713929|REF_RGD_ID:151665151 11891252 DAB2IP DAB2 interacting protein gene DOID:10534 stomach cancer susceptibility ISO RGD:732352 D RGD:9068941 20220311 RGD DNA:SNPs,haplotype:intron: (rs2243421) (human) PMID:23246699|REF_RGD_ID:151665146 11891252 DAB2IP DAB2 interacting protein gene DOID:1324 lung cancer sexual_dimorphism ISO RGD:732352 D RGD:9068941 20220317 RGD DNA:SNP:intron 1:97906C>A (rs1571801) (human) PMID:22046421|REF_RGD_ID:151665197 11891252 DAB2IP DAB2 interacting protein gene DOID:341 peripheral vascular disease ISO RGD:732352 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:20622881 11891252 DAB2IP DAB2 interacting protein gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:732352 D RGD:9068941 20220317 RGD protein:decreased expression:esophagus (human) PMID:30464518|REF_RGD_ID:151665168 11891252 DAB2IP DAB2 interacting protein gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:732352 D RGD:9068941 20220317 RGD protein:decreased expression:lung (human) PMID:31849482|REF_RGD_ID:151665206 11891252 DAB2IP DAB2 interacting protein gene DOID:5844 myocardial infarction ISO RGD:732352 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:20622881 11891252 DAB2IP DAB2 interacting protein gene DOID:630 genetic disease ISO RGD:732352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891252 DAB2IP DAB2 interacting protein gene DOID:684 hepatocellular carcinoma ISO RGD:732352 D RGD:9068941 20220311 RGD mRNA:decreased expression:liver (human) PMID:31176165|REF_RGD_ID:151665110 11891252 DAB2IP DAB2 interacting protein gene DOID:684 hepatocellular carcinoma severity ISO RGD:732352 D RGD:9068941 20220311 RGD protein:decreased expression:liver (human) PMID:22168621|REF_RGD_ID:151665148 11891252 DAB2IP DAB2 interacting protein gene DOID:7693 abdominal aortic aneurysm ISO RGD:732352 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:20622881 11891252 DAB2IP DAB2 interacting protein gene DOID:9000965 Neoplasm Metastasis severity ISO RGD:732352 D RGD:9068941 20220317 RGD associated with colorectal cancer;protein:decreased expression:colorectum (human) PMID:26336990|REF_RGD_ID:11531913 11891252 DAB2IP DAB2 interacting protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:732352 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:18073375 11891252 DAB2IP DAB2 interacting protein gene DOID:9005172 Lung Neoplasms ISO RGD:732352 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:22046421 11891252 DAB2IP DAB2 interacting protein gene DOID:9256 colorectal cancer disease_progression ISO RGD:1331914 D RGD:9068941 20220317 RGD PMID:26564738|REF_RGD_ID:11556182 11891252 DAB2IP DAB2 interacting protein gene DOID:9256 colorectal cancer disease_progression ISO RGD:732352 D RGD:9068941 20220317 RGD protein:decreased expression:colorectum (human) PMID:26564738|PMID:31081086|REF_RGD_ID:11556182|REF_RGD_ID:151665164 11891252 DAB2IP DAB2 interacting protein gene DOID:9256 colorectal cancer treatment ISO RGD:732352 D RGD:9068941 20220317 RGD human cells in mouse model PMID:30974224|REF_RGD_ID:151665166 11891252 DAB2IP DAB2 interacting protein gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:732352 D RGD:9068941 20220311 RGD mRNA,protein:decreased expression:epithelium of nasopharynx (human) PMID:28586035|REF_RGD_ID:151665144 11891252 DAB2IP DAB2 interacting protein gene DOID:9477 pulmonary embolism ISO RGD:732352 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:20622881 11891283 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11891283 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868|PMID:28492532 11891283 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:1351399 D RGD:7240710 20180130 OMIM 11891283 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:1351399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Is | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36 PMID:16199547|PMID:17576681|PMID:22492991|PMID:23033978|PMID:23934111|PMID:24476948|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26467025|PMID:26482601|PMID:27781031|PMID:28492532|PMID:28777499|PMID:28778787|PMID:28887793|PMID:28940310|PMID:31130284|PMID:32238909|PMID:32681751|PMID:33734437|PMID:9536098 11891283 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:1059 intellectual disability ISO RGD:1351399 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23033978|PMID:23934111|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26482601|PMID:28492532|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437 11891283 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:10907 microcephaly ISO RGD:1351399 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:23033978|PMID:23934111|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26482601|PMID:28492532|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437 11891283 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:12849 autistic disorder ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11891283 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:1826 epilepsy ISO RGD:1351399 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizure PMID:23033978|PMID:23934111|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26482601|PMID:28492532|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437 11891283 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:5212 congenital disorder of glycosylation ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:32681751|PMID:33734437 11891283 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:5419 schizophrenia ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11891283 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:630 genetic disease ISO RGD:1351399 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23033978|PMID:23934111|PMID:24476948|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26467025|PMID:26482601|PMID:28492532|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437 11891283 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9001793 Generalized Epilepsy ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 11891283 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 11891283 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9005603 Muscle Hypotonia ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular hypotonia PMID:23033978|PMID:23934111|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26482601|PMID:28492532|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437 11891283 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9005603 Muscle Hypotonia ISO RGD:1351399 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:23033978|PMID:23934111|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26482601|PMID:28492532|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437 11891283 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9007 sudden infant death syndrome ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868 11891283 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9008086 Developmental Disabilities ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:32681751 11891314 ERICH5 glutamate rich 5 gene DOID:630 genetic disease ISO RGD:1606129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891324 NPPC natriuretic peptide C gene DOID:0060476 Perlman syndrome ISO RGD:1351265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11891324 NPPC natriuretic peptide C gene DOID:0080006 bone development disease ISO RGD:1351265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 11891324 NPPC natriuretic peptide C gene DOID:0110991 Joubert syndrome 22 ISO RGD:1351265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11891324 NPPC natriuretic peptide C gene DOID:10763 hypertension ISO RGD:1351265 D RGD:9068941 20200609 RGD PMID:12452325|REF_RGD_ID:1580150 11891324 NPPC natriuretic peptide C gene DOID:10763 hypertension severity ISO RGD:1351265 D RGD:9068941 20200609 RGD associated with Pregnancy Complications;protein:increased expression:plasma PMID:11775888|REF_RGD_ID:1642292 11891324 NPPC natriuretic peptide C gene DOID:114 heart disease ISO RGD:620850 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:heart PMID:10828832|REF_RGD_ID:1642294 11891324 NPPC natriuretic peptide C gene DOID:1222 cartilage disease ISO RGD:1351265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17676597 11891324 NPPC natriuretic peptide C gene DOID:14115 toxic shock syndrome ISO RGD:1351265 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:8117275|REF_RGD_ID:1642297 11891324 NPPC natriuretic peptide C gene DOID:1712 aortic valve stenosis ISO RGD:620850 D RGD:9068941 20200609 RGD mRNA:decreased expression:aortic valve PMID:17709640|REF_RGD_ID:1642267 11891324 NPPC natriuretic peptide C gene DOID:2256 osteochondrodysplasia ISO RGD:1551929 D RGD:9068941 20220825 MouseDO 11891324 NPPC natriuretic peptide C gene DOID:2349 arteriosclerosis ISO RGD:1351265 D RGD:9068941 20200609 RGD PMID:8989116|REF_RGD_ID:1642296 11891324 NPPC natriuretic peptide C gene DOID:4480 achondroplasia ISO RGD:1551929 D RGD:9068941 20220825 MouseDO OMIM:100800 11891324 NPPC natriuretic peptide C gene DOID:5199 ureteral obstruction ISO RGD:1351265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26207612 11891324 NPPC natriuretic peptide C gene DOID:630 genetic disease ISO RGD:1351265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11891324 NPPC natriuretic peptide C gene DOID:783 end stage renal disease ISO RGD:1351265 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:8117275|REF_RGD_ID:1642297 11891324 NPPC natriuretic peptide C gene DOID:783 end stage renal disease ISO RGD:1351265 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:8743538|REF_RGD_ID:1580770 11891324 NPPC natriuretic peptide C gene DOID:9002362 Hyperkinesis ISO RGD:1351265 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11860464 11891324 NPPC natriuretic peptide C gene DOID:9002669 Hypoxia ISO RGD:620850 D RGD:9068941 20200609 RGD protein:increased expression:lung, plasma PMID:16677483|REF_RGD_ID:1642268 11891324 NPPC natriuretic peptide C gene DOID:9006257 Growth Disorders ISO RGD:1351265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17676597 11891324 NPPC natriuretic peptide C gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620850 D RGD:9068941 20200609 RGD PMID:15337698|REF_RGD_ID:1580149 11891331 CHODL chondrolectin gene DOID:10652 Alzheimer's disease ISO RGD:1320469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 11891331 CHODL chondrolectin gene DOID:630 genetic disease ISO RGD:1320469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891331 CHODL chondrolectin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11891354 SLC24A2 solute carrier family 24 member 2 gene DOID:630 genetic disease ISO RGD:730928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891367 PIAS2 protein inhibitor of activated STAT 2 gene DOID:0060356 Vici syndrome ISO RGD:1603704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 11891367 PIAS2 protein inhibitor of activated STAT 2 gene DOID:1059 intellectual disability ISO RGD:1603704 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11891367 PIAS2 protein inhibitor of activated STAT 2 gene DOID:630 genetic disease ISO RGD:1603704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891367 PIAS2 protein inhibitor of activated STAT 2 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1603704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 11891392 NAAA N-acylethanolamine acid amidase gene DOID:630 genetic disease ISO RGD:1316359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891392 NAAA N-acylethanolamine acid amidase gene DOID:891 progressive myoclonus epilepsy ISO RGD:1316359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 11891392 NAAA N-acylethanolamine acid amidase gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1316359 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11891419 RHEX regulator of hemoglobinization and erythroid cell expansion gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11891419 RHEX regulator of hemoglobinization and erythroid cell expansion gene DOID:12849 autistic disorder ISO RGD:1606860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11891419 RHEX regulator of hemoglobinization and erythroid cell expansion gene DOID:1540 parathyroid carcinoma ISO RGD:1606860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11891419 RHEX regulator of hemoglobinization and erythroid cell expansion gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606860 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11891419 RHEX regulator of hemoglobinization and erythroid cell expansion gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11891432 ASPM assembly factor for spindle microtubules gene DOID:0050453 lissencephaly ISO RGD:1316111 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:19028728|PMID:23611254|PMID:25741868|PMID:28492532 11891432 ASPM assembly factor for spindle microtubules gene DOID:0070280 primary autosomal recessive microcephaly 5 ISO RGD:1316111 D RGD:7240710 20180130 OMIM 11891432 ASPM assembly factor for spindle microtubules gene DOID:0070280 primary autosomal recessive microcephaly 5 ISO RGD:1316111 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive PMID:11067780|PMID:12355089|PMID:14574646|PMID:15355437|PMID:16141009|PMID:16199547|PMID:16673149|PMID:17576681|PMID:17849285|PMID:18414213|PMID:18452193|PMID:19028728|PMID:19332161|PMID:19353628|PMID:19770472|PMID:20301772|PMID:20679666|PMID:20978018|PMID:22823409|PMID:22989186|PMID:23611254|PMID:24033266|PMID:25480035|PMID:25525159|PMID:25741868|PMID:25786579|PMID:26467025|PMID:26548919|PMID:26691732|PMID:26846091|PMID:27250695|PMID:28004384|PMID:28492532|PMID:28554332|PMID:29243349|PMID:29522511|PMID:29644084|PMID:29706646|PMID:30167849|PMID:30842647|PMID:31680123|PMID:31696992|PMID:31853109|PMID:31934343|PMID:31980526|PMID:32404165|PMID:32677750|PMID:33255631|PMID:34402213|PMID:9536098 11891432 ASPM assembly factor for spindle microtubules gene DOID:0070285 primary autosomal recessive microcephaly 1 ISO RGD:1316111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:18414213|PMID:19028728|PMID:19332161|PMID:19770472|PMID:20301772|PMID:23611254|PMID:25741868|PMID:26548919|PMID:26691732|PMID:26846091|PMID:28492532|PMID:29243349|PMID:29644084|PMID:31853109|PMID:32677750|PMID:33255631|PMID:34402213 11891432 ASPM assembly factor for spindle microtubules gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:1316111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive primary microcephaly PMID:15355437|PMID:16199547|PMID:18414213|PMID:19028728|PMID:20301772|PMID:20679666|PMID:22823409|PMID:23611254|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30842647|PMID:31980526 11891432 ASPM assembly factor for spindle microtubules gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1316111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11891432 ASPM assembly factor for spindle microtubules gene DOID:0080600 COVID-19 ISO RGD:1316111 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11891432 ASPM assembly factor for spindle microtubules gene DOID:0110358 retinitis pigmentosa 12 ISO RGD:1316111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 12 PMID:10508521|PMID:17964524|PMID:22065545|PMID:23379534|PMID:25412400|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521 11891432 ASPM assembly factor for spindle microtubules gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1316111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 11891432 ASPM assembly factor for spindle microtubules gene DOID:10534 stomach cancer ISO RGD:1316111 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:stomach: PMID:26178168|REF_RGD_ID:13439749 11891432 ASPM assembly factor for spindle microtubules gene DOID:1059 intellectual disability ISO RGD:1316111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability PMID:12355089|PMID:18414213|PMID:19770472|PMID:23611254|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30167849 11891432 ASPM assembly factor for spindle microtubules gene DOID:1059 intellectual disability ISO RGD:1316111 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:12355089|PMID:18414213|PMID:19770472|PMID:20301772|PMID:23611254|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30167849 11891432 ASPM assembly factor for spindle microtubules gene DOID:10907 microcephaly ISO RGD:1316111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive PMID:19028728|PMID:20301772|PMID:20679666|PMID:22823409|PMID:23611254|PMID:25741868|PMID:26539891|PMID:28492532|PMID:30842647 11891432 ASPM assembly factor for spindle microtubules gene DOID:10907 microcephaly susceptibility ISO RGD:1316111 D RGD:9068941 20200609 RGD PMID:16141009|REF_RGD_ID:1599300 11891432 ASPM assembly factor for spindle microtubules gene DOID:10907 microcephaly treatment ISO RGD:1316111 D RGD:9068941 20200609 RGD PMID:20823249|REF_RGD_ID:13439744 11891432 ASPM assembly factor for spindle microtubules gene DOID:11612 polycystic ovary syndrome ISO RGD:1316111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11891432 ASPM assembly factor for spindle microtubules gene DOID:11832 visual epilepsy susceptibility ISO RGD:1316111 D RGD:9068941 20200609 RGD PMID:16141009|REF_RGD_ID:1599300 11891432 ASPM assembly factor for spindle microtubules gene DOID:14687 diastrophic dysplasia ISO RGD:1316111 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diastrophic dysplasia PMID:25741868 11891432 ASPM assembly factor for spindle microtubules gene DOID:1540 parathyroid carcinoma ISO RGD:1316111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11891432 ASPM assembly factor for spindle microtubules gene DOID:2152 ovary epithelial cancer ISO RGD:1316111 D RGD:9068941 20200609 RGD protein:altered expression:ovary, cytoplasm PMID:24830737|REF_RGD_ID:13204746 11891432 ASPM assembly factor for spindle microtubules gene DOID:3068 glioblastoma ISO RGD:1316111 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:18636190|REF_RGD_ID:13439742 11891432 ASPM assembly factor for spindle microtubules gene DOID:3070 high grade glioma disease_progression ISO RGD:1316111 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:20142996|REF_RGD_ID:13442488 11891432 ASPM assembly factor for spindle microtubules gene DOID:630 genetic disease ISO RGD:1316111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14574646|PMID:17576681|PMID:18414213|PMID:19028728|PMID:19332161|PMID:19770472|PMID:20301772|PMID:23611254|PMID:25741868|PMID:25786579|PMID:26467025|PMID:26548919|PMID:26691732|PMID:26846091|PMID:27250695|PMID:28492532|PMID:29243349|PMID:29644084|PMID:31853109|PMID:32677750|PMID:33255631|PMID:34402213|PMID:9536098 11891432 ASPM assembly factor for spindle microtubules gene DOID:684 hepatocellular carcinoma ISO RGD:1316111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11891432 ASPM assembly factor for spindle microtubules gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1316111 D RGD:9068941 20200609 RGD PMID:18676753|REF_RGD_ID:13439743 11891432 ASPM assembly factor for spindle microtubules gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1316111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11891432 ASPM assembly factor for spindle microtubules gene DOID:9006534 Nervous System Malformations ISO RGD:1316111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11891432 ASPM assembly factor for spindle microtubules gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11891477 DBP D-box binding PAR bZIP transcription factor gene DOID:11476 osteoporosis ISO RGD:733159 D RGD:9068941 20200609 RGD PMID:17002564|REF_RGD_ID:1625350 11891477 DBP D-box binding PAR bZIP transcription factor gene DOID:630 genetic disease ISO RGD:733159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891529 NRBP1 nuclear receptor binding protein 1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1354113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11891529 NRBP1 nuclear receptor binding protein 1 gene DOID:630 genetic disease ISO RGD:1354113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891550 TRIM25 tripartite motif containing 25 gene DOID:0050777 Joubert syndrome ISO RGD:1343933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11891550 TRIM25 tripartite motif containing 25 gene DOID:630 genetic disease ISO RGD:1343933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891564 FAM50B family with sequence similarity 50 member B gene DOID:630 genetic disease ISO RGD:1352003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891591 LAP3 leucine aminopeptidase 3 gene DOID:0080600 COVID-19 ISO RGD:1317491 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11891591 LAP3 leucine aminopeptidase 3 gene DOID:630 genetic disease ISO RGD:1317491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891591 LAP3 leucine aminopeptidase 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1317491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11891609 RCE1 Ras converting CAAX endopeptidase 1 gene DOID:1059 intellectual disability ISO RGD:1319506 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Intellectual disability 11891609 RCE1 Ras converting CAAX endopeptidase 1 gene DOID:630 genetic disease ISO RGD:1319506 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891609 RCE1 Ras converting CAAX endopeptidase 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1319506 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11891609 RCE1 Ras converting CAAX endopeptidase 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1319506 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11891633 PIGG phosphatidylinositol glycan anchor biosynthesis class G gene DOID:0080454 developmental and epileptic encephalopathy 42 ISO RGD:1603213 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42 PMID:25741868|PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251 11891633 PIGG phosphatidylinositol glycan anchor biosynthesis class G gene DOID:1826 epilepsy ISO RGD:1603213 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11891633 PIGG phosphatidylinositol glycan anchor biosynthesis class G gene DOID:1856 cherubism ISO RGD:1603213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11891633 PIGG phosphatidylinositol glycan anchor biosynthesis class G gene DOID:630 genetic disease ISO RGD:1603213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:31980526|PMID:33921431|PMID:34113002 11891633 PIGG phosphatidylinositol glycan anchor biosynthesis class G gene DOID:9002100 Hyperphosphatasia with Mental Retardation Syndrome 1 ISO RGD:1603213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2 PMID:25741868|PMID:26996948|PMID:28492532 11891633 PIGG phosphatidylinositol glycan anchor biosynthesis class G gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1603213 D RGD:7240710 20190315 OMIM 11891633 PIGG phosphatidylinositol glycan anchor biosynthesis class G gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1603213 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: EMM-NULL PHENOTYPE | ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 13 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 53 | ClinVar Annotator: match by term: Mental retardation, autosomal recessive 53 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:16199547|PMID:17576681|PMID:25741868|PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:31980526|PMID:33763700|PMID:33921431|PMID:34113002|PMID:34535746|PMID:34908758|PMID:3603660|PMID:9536098 11891696 FBXL20 F-box and leucine rich repeat protein 20 gene DOID:630 genetic disease ISO RGD:1345687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891714 LSM1 LSM1 homolog, mRNA degradation associated gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1312715 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 11891714 LSM1 LSM1 homolog, mRNA degradation associated gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1312715 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 11891714 LSM1 LSM1 homolog, mRNA degradation associated gene DOID:11383 cryptorchidism ISO RGD:1312715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryptorchidism PMID:25741868|PMID:31010896 11891714 LSM1 LSM1 homolog, mRNA degradation associated gene DOID:607 paraplegia ISO RGD:1312715 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11891714 LSM1 LSM1 homolog, mRNA degradation associated gene DOID:630 genetic disease ISO RGD:1312715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891714 LSM1 LSM1 homolog, mRNA degradation associated gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1312715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:25741868|PMID:31010896 11891714 LSM1 LSM1 homolog, mRNA degradation associated gene DOID:9008086 Developmental Disabilities ISO RGD:1312715 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:31010896 11891722 CHML CHM like Rab escort protein gene DOID:0111261 fumarase deficiency ISO RGD:1313260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fumarase deficiency PMID:11865300|PMID:12761039|PMID:21398687|PMID:22069215|PMID:28300276|PMID:28492532 11891722 CHML CHM like Rab escort protein gene DOID:1540 parathyroid carcinoma ISO RGD:1313260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11891722 CHML CHM like Rab escort protein gene DOID:2841 asthma ISO RGD:1313260 D RGD:9068941 20200609 RGD PMID:18343558|REF_RGD_ID:5133238 11891722 CHML CHM like Rab escort protein gene DOID:630 genetic disease ISO RGD:1313260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891722 CHML CHM like Rab escort protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11891722 CHML CHM like Rab escort protein gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1313260 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 11891722 CHML CHM like Rab escort protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11891750 SLC43A1 solute carrier family 43 member 1 gene DOID:1059 intellectual disability ISO RGD:1317883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11891750 SLC43A1 solute carrier family 43 member 1 gene DOID:630 genetic disease ISO RGD:1317883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891792 DUSP11 dual specificity phosphatase 11 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1315996 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11891792 DUSP11 dual specificity phosphatase 11 gene DOID:543 dystonia ISO RGD:1315996 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11891792 DUSP11 dual specificity phosphatase 11 gene DOID:630 genetic disease ISO RGD:1315996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891792 DUSP11 dual specificity phosphatase 11 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1315996 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11891805 RTP1 receptor transporter protein 1 gene DOID:0060575 3MC syndrome 1 ISO RGD:1604751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 11891805 RTP1 receptor transporter protein 1 gene DOID:630 genetic disease ISO RGD:1604751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891814 RPS6KA5 ribosomal protein S6 kinase A5 gene DOID:0080054 achondrogenesis type IA ISO RGD:1318046 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11891814 RPS6KA5 ribosomal protein S6 kinase A5 gene DOID:0080600 COVID-19 ISO RGD:1318046 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11891814 RPS6KA5 ribosomal protein S6 kinase A5 gene DOID:630 genetic disease ISO RGD:1318046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891814 RPS6KA5 ribosomal protein S6 kinase A5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1318046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16339038 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotype:cds:p.V64I(human) PMID:21883707|REF_RGD_ID:8661694 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:0060189 ileitis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:22848538|REF_RGD_ID:8661712 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:polymorphism: :190A>G(human) PMID:26591766|REF_RGD_ID:14995492 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:0080599 Coronavirus infectious disease ISO RGD:1552061 D RGD:9068941 20220825 MouseDO 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:0080600 COVID-19 ISO RGD:1603716 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:0080600 COVID-19 ISO RGD:1603716 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:33307546 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:0080745 polymyositis ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:increased expression:limb muscle: PMID:15772970|REF_RGD_ID:8661727 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:10140 dry eye syndrome ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:19597109|REF_RGD_ID:8661637 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:10223 dermatomyositis ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:increased expression:limb muscle: PMID:15772970|REF_RGD_ID:8661727 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:10303 sialadenitis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:17284325|REF_RGD_ID:8661704 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:106 pleural tuberculosis ISO RGD:1603716 D RGD:9068941 20200609 RGD PMID:19159432|REF_RGD_ID:4145106 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:10871 age related macular degeneration ISO RGD:1552061 D RGD:9068941 20220825 MouseDO 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:increased expression:monocyte: PMID:22789920|REF_RGD_ID:8661669 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:11335 sarcoidosis ISO RGD:1603716 D RGD:9068941 20200609 RGD PMID:18513341|REF_RGD_ID:4144898 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:11382 corneal neovascularization ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:12827053|PMID:19421039|REF_RGD_ID:8657360|REF_RGD_ID:9491750 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:11446 sciatic neuropathy ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:24907405|REF_RGD_ID:8661781 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:11716 prediabetes syndrome ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-960T>A (rs3918359) (human) PMID:18096169|REF_RGD_ID:2313557 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:1205 allergic disease ISO RGD:1603716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:12574 posterior uveitis ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.V64I(human) PMID:17417600|REF_RGD_ID:8551817 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:12732 intermediate uveitis susceptibility ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.V64I(human) PMID:17417600|REF_RGD_ID:8551817 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:10946288|REF_RGD_ID:8661731 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:13378 Kawasaki disease susceptibility ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotype:cds:p.V64I(human) PMID:17672867|REF_RGD_ID:8551811 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:1474 aggressive periodontitis susceptibility ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotype:cds:p.V64I(human) PMID:21264360|REF_RGD_ID:8661707 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:1555 urticaria susceptibility ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotype::190G>A(human) PMID:23727176|REF_RGD_ID:8551831 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:1564 fungal infectious disease ISO RGD:1603716 D RGD:9068941 20200609 RGD PMID:22287435|REF_RGD_ID:7483612 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:1577 limited scleroderma ISO RGD:1552061 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:skin: PMID:12925209|REF_RGD_ID:8661733 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:1824 status epilepticus ISO RGD:1603716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19490431|PMID:20034406 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:2030 anxiety disorder ISO RGD:1552061 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy; PMID:24907405|REF_RGD_ID:8661781 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:2799 bronchiolitis obliterans ISO RGD:1552061 D RGD:9068941 20200609 RGD mRNA:increased expression:trachea: PMID:11518728|REF_RGD_ID:4145124 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:2841 asthma ISO RGD:1552061 D RGD:9068941 20200609 RGD protein:increased expression:lung, dendritic cell (mouse) PMID:19917684|REF_RGD_ID:8549811 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:2841 asthma ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:haplotype:cds:p.V64I(human) PMID:23454776|REF_RGD_ID:8551842 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:2841 asthma susceptibility ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.V64I (human) PMID:17298432|REF_RGD_ID:4145110 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:2957 pulmonary tuberculosis disease_progression ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:11438742|REF_RGD_ID:734715 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:3042 allergic contact dermatitis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:10899907|REF_RGD_ID:8661227 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:3042 allergic contact dermatitis ISO RGD:1603716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:3082 interstitial lung disease severity ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:increased expression: T cell PMID:16095529|REF_RGD_ID:4145064 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:3213 demyelinating disease ISO RGD:620876 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:dorsal root ganglion: PMID:18076762|REF_RGD_ID:4890034 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:3310 atopic dermatitis ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:increased expression:skin,monocyte: PMID:15370700|REF_RGD_ID:8661734 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:16857270|REF_RGD_ID:8657363 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:decreased expression:monocyte: PMID:16857270|REF_RGD_ID:8657363 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:3393 coronary artery disease ISO RGD:1603716 D RGD:9068941 20200609 RGD PMID:12426226|REF_RGD_ID:1581178 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:3429 inclusion body myositis ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:increased expression:limb muscle: PMID:15772970|REF_RGD_ID:8661727 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:3612 retinitis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:24142887|REF_RGD_ID:8661224 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:15743780|REF_RGD_ID:4145065 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1603716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14609568 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:409 liver disease ISO RGD:1603716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12845637 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:418 systemic scleroderma ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:23142052|REF_RGD_ID:9479741 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:4448 macular degeneration ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:16857270|REF_RGD_ID:8657363 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:4448 macular degeneration no_association ISO RGD:1603716 D RGD:9068941 20200609 RGD PMID:18172114|REF_RGD_ID:7794843 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:4483 rhinitis susceptibility ISO RGD:1603716 D RGD:9068941 20200609 RGD Rhinitis, Allergic, Seasonal; DNA:SNP:cds:p.V64I (human) PMID:17135764|REF_RGD_ID:4145111 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:4617 periapical granuloma ISO RGD:1603716 D RGD:9068941 20200609 RGD mRNA:increased expression:gingiva: PMID:16101967|REF_RGD_ID:8661719 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1603716 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:25741868|PMID:9252328|PMID:9662369 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:526 human immunodeficiency virus infectious disease susceptibility ISO RGD:1603716 D RGD:7240710 20230125 OMIM 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:552 pneumonia ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:14615370|PMID:17284325|REF_RGD_ID:4145068|REF_RGD_ID:8661704 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:552 pneumonia ISO RGD:1603716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:5844 myocardial infarction ISO RGD:1603716 D RGD:9068941 20200609 RGD PMID:12719858|PMID:12853162|REF_RGD_ID:1581174|REF_RGD_ID:1581177 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:6000 congestive heart failure ISO RGD:1603716 D RGD:9068941 20200609 RGD PMID:12719858|REF_RGD_ID:1581177 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:630 genetic disease ISO RGD:1603716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:823 periapical periodontitis ISO RGD:620876 D RGD:9068941 20200609 RGD PMID:24631631|REF_RGD_ID:8661717 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:8466 retinal degeneration ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:23022404|REF_RGD_ID:8657362 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:850 lung disease ISO RGD:1552061 D RGD:9068941 20200609 RGD acute lung injury PMID:20152938|REF_RGD_ID:4144896 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:850 lung disease ISO RGD:1552061 D RGD:9068941 20200609 RGD acute lung injury associated with anoxia PMID:17222215|REF_RGD_ID:4145002 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:850 lung disease ISO RGD:1603716 D RGD:9068941 20200609 RGD lung injury associated with sepsis; protein:increased expression:macrophage alveolar PMID:19733456|REF_RGD_ID:4144897 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:865 vasculitis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:23074996|REF_RGD_ID:8661749 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:8683 myeloid sarcoma ISO RGD:1603716 D RGD:9068941 20200609 RGD associated with Leukemia, Myeloid, Acute;protein:increased expression:blood, leukocyte PMID:20582977|REF_RGD_ID:8661751 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:874 bacterial pneumonia ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:20042590|REF_RGD_ID:4891443 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:8893 psoriasis ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:increased expression:skin,monocyte: PMID:15370700|REF_RGD_ID:8661734 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620876 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:18338959|REF_RGD_ID:4144888 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9000226 Periodontal Cyst ISO RGD:1603716 D RGD:9068941 20200609 RGD mRNA:increased expression:gingiva: PMID:16101967|REF_RGD_ID:8661719 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9000585 Intervertebral Disc Disease ISO RGD:620876 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:neuron,macrophage: PMID:24462503|REF_RGD_ID:8661788 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9000641 Pain ISO RGD:1552061 D RGD:9068941 20200609 RGD associated with Osteoarthritis, Knee; PMID:23185004|REF_RGD_ID:8661785 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9000641 Pain ISO RGD:620876 D RGD:9068941 20200609 RGD PMID:18419759|REF_RGD_ID:2307043 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:10438957|REF_RGD_ID:4145126 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9000927 Alveolar Bone Loss ISO RGD:1552061 D RGD:9068941 20200609 RGD associated with Periodontitis; PMID:21241302|REF_RGD_ID:8661687 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9001004 Chronic Periodontitis ISO RGD:1603716 D RGD:9068941 20200609 RGD PMID:20059422|REF_RGD_ID:8661721 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9001044 Choroidal Neovascularization ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:22205983|REF_RGD_ID:8657364 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9001427 Geographic Atrophy ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:24142887|REF_RGD_ID:8661224 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9001472 Nasal Polyps ISO RGD:1603716 D RGD:9068941 20200609 RGD PMID:22287435|REF_RGD_ID:7483612 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9001954 Thoracic Injuries ISO RGD:620876 D RGD:9068941 20200609 RGD PMID:20543668|REF_RGD_ID:4144894 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9002159 Liver Reperfusion Injury severity ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:27229110|REF_RGD_ID:14995460 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1552061 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:17631861|REF_RGD_ID:2313558 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:1603716 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.V64I (human) PMID:11756347|REF_RGD_ID:2313563 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:1552061 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy; PMID:24907405|REF_RGD_ID:8661781 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:620876 D RGD:9068941 20200609 RGD PMID:18419759|REF_RGD_ID:2307043 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:620876 D RGD:9068941 20200609 RGD associated with Bone Neoplasms;protein:increased expression:spinal cord: PMID:23511129|REF_RGD_ID:8661772 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:620876 D RGD:9068941 20200609 RGD associated with Demyelinating Diseases; PMID:18076762|REF_RGD_ID:4890034 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:620876 D RGD:9068941 20200609 RGD associated with Intervertebral disc disease; PMID:24462503|REF_RGD_ID:8661788 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:620876 D RGD:9068941 20200609 RGD protein:increased expression:dorsal horn of spinal cord: PMID:22721162|REF_RGD_ID:8548831 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1552061 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:dorsal root ganglion: PMID:23185004|REF_RGD_ID:8661785 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9002457 Experimental Arthritis ISO RGD:620876 D RGD:9068941 20200609 RGD PMID:16320322|REF_RGD_ID:4144893 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9002699 Periapical Diseases ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:20113782|REF_RGD_ID:8661683 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:620876 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:9655467|REF_RGD_ID:632391 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1603716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9002834 Herpesviridae Infections ISO RGD:1552061 D RGD:9068941 20200609 RGD associated with pulmonary fibrosis PMID:18187693|REF_RGD_ID:4144903 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:17075702|REF_RGD_ID:8657356 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:1603716 D RGD:9068941 20200609 RGD mRNA:increased expression:Nasal Mucosa PMID:17982926|REF_RGD_ID:4145109 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620876 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:18095591|REF_RGD_ID:4144890 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:22377584|REF_RGD_ID:8661752 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9003969 Peri-Implantitis ISO RGD:1603716 D RGD:9068941 20200609 RGD PMID:20059422|REF_RGD_ID:8661721 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9004283 Transplant Rejection ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:14662900|REF_RGD_ID:8657367 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9005106 Animal Toxoplasmosis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:19741601|REF_RGD_ID:8661685 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9005396 Intimal Hyperplasia ISO RGD:1552061 D RGD:9068941 20200609 RGD associated with Vascular System Injuries; PMID:20836883|REF_RGD_ID:8661636 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:24736166|REF_RGD_ID:8657357 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9005647 Experimental Autoimmune Uveitis no_association ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:19357362|REF_RGD_ID:8657383 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:1552061 D RGD:9068941 20200609 RGD mRNA:increased expression:eye: PMID:12605265|REF_RGD_ID:8661671 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9006944 Alcoholic Fatty Liver treatment ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:25557254|REF_RGD_ID:14995489 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9007364 Mouth Neoplasms susceptibility ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:pV64I(human) PMID:21570337|REF_RGD_ID:8661698 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:decreased expression:monocyte: PMID:15786508|REF_RGD_ID:4892017 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9008 psoriatic arthritis susceptibility ISO RGD:1603716 D RGD:9068941 20200609 RGD associated with Psoriasis;DNA:SNP:p.V64I(rs1799864)(human) PMID:20153665|REF_RGD_ID:8661745 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9065 leishmaniasis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:10899907|REF_RGD_ID:8661227 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9111 cutaneous leishmaniasis ISO RGD:1552061 D RGD:9068941 20200609 RGD mRNA:increased expression:foot, lymph node PMID:12874303|REF_RGD_ID:5688168 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:16631114|REF_RGD_ID:2313561 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V64I (human) PMID:10400139|REF_RGD_ID:2313564 11891835 CCR2 C-C motif chemokine receptor 2 gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:12770795|REF_RGD_ID:2313562 11891835 Ccr2 chemokine (C-C motif) receptor 2 gene DOID:11712 lipoatrophic diabetes mellitus ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:19277603|REF_RGD_ID:8657358 11891835 Ccr2 chemokine (C-C motif) receptor 2 gene DOID:9146 visceral leishmaniasis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:24818662|REF_RGD_ID:8661728 11891842 MLH1 mutL homolog 1 gene DOID:0050465 Muir-Torre syndrome ISO RGD:733729 D RGD:7240710 20180130 OMIM 11891842 MLH1 mutL homolog 1 gene DOID:0050465 Muir-Torre syndrome ISO RGD:733729 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas | ClinVar Annotator: match by term: Muir-Torré syndrome PMID:10037723|PMID:10323887|PMID:10422993|PMID:10471527|PMID:10495924|PMID:10534773|PMID:10573010|PMID:10713887|PMID:10874307|PMID:10970186|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11343035|PMID:11376800|PMID:11427529|PMID:11524701|PMID:11555625|PMID:11585727|PMID:11601928|PMID:11781295|PMID:11793442|PMID:11920650|PMID:11948175|PMID:12095971|PMID:12362047|PMID:12386821|PMID:12547705|PMID:12555990|PMID:12624141|PMID:12655568|PMID:12658575|PMID:12810663|PMID:14635101|PMID:14699485|PMID:15173238|PMID:15254659|PMID:15475387|PMID:15520370|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15926618|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16199547|PMID:16216036|PMID:16395668|PMID:16451135|PMID:16736289|PMID:16769400|PMID:16995940|PMID:17054581|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17312306|PMID:17348456|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17889038|PMID:18033691|PMID:18205192|PMID:18383312|PMID:18518984|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18931482|PMID:19072991|PMID:19116412|PMID:19324997|PMID:19419416|PMID:19526325|PMID:19690142|PMID:19698169|PMID:19731080|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20233461|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20864636|PMID:20924129|PMID:20937110|PMID:21056691|PMID:21120944|PMID:21247423|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21636617|PMID:21642682|PMID:21671475|PMID:21681552|PMID:21868491|PMID:21952876|PMID:22252508|PMID:22290698|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22843852|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23354017|PMID:23403630|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23747338|PMID:24032978|PMID:24033266|PMID:24096645|PMID:24278394|PMID:24323032|PMID:24344984|PMID:24362816|PMID:24456667|PMID:24710284|PMID:24728327|PMID:25133505|PMID:25477341|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26053027|PMID:26247049|PMID:26437257|PMID:26467025|PMID:26552419|PMID:26666765|PMID:26681312|PMID:26845104|PMID:26895986|PMID:26898890|PMID:27064304|PMID:27498913|PMID:27535758|PMID:27600092|PMID:27601186|PMID:27606285|PMID:27647783|PMID:27978560|PMID:28157215|PMID:28445943|PMID:28449805|PMID:28492532|PMID:28514183|PMID:28767289|PMID:28874130|PMID:28944238|PMID:29238914|PMID:29345684|PMID:29520894|PMID:29596542|PMID:29887214|PMID:30077346|PMID:30093976|PMID:30262796|PMID:30322717|PMID:30504929|PMID:30521064|PMID:30982232|PMID:30998989|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31697235|PMID:31784484|PMID:32040686|PMID:32295079|PMID:32587781|PMID:32635641|PMID:32659497|PMID:32986223|PMID:33191490|PMID:33309985|PMID:33471991|PMID:33821390|PMID:33868589|PMID:35223509|PMID:36988593|PMID:4063166|PMID:7705822|PMID:8145827|PMID:8198129|PMID:8521398|PMID:8571956|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8872463|PMID:8880570|PMID:8938136|PMID:9234704|PMID:9311737|PMID:9322509|PMID:9377556|PMID:9506527|PMID:9536098|PMID:9697702|PMID:9927033 11891842 MLH1 mutL homolog 1 gene DOID:0060058 lymphoma ISO RGD:733729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15700306 11891842 MLH1 mutL homolog 1 gene DOID:0070271 Lynch syndrome 1 ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:08808596|PMID:10037723|PMID:10082584|PMID:10323887|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10573010|PMID:10601588|PMID:10612827|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10799973|PMID:10829038|PMID:10874307|PMID:10923051|PMID:10956410|PMID:10995807|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11343035|PMID:11376800|PMID:11385712|PMID:11429708|PMID:11524701|PMID:11555625|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11781295|PMID:11839723|PMID:11870161|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12362047|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12419761|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12618391|PMID:12624141|PMID:12655568|PMID:12658575|PMID:12799449|PMID:12810663|PMID:12919140|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14699485|PMID:14762794|PMID:14871975|PMID:14961575|PMID:15099349|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15235038|PMID:15253764|PMID:15256438|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15365995|PMID:15365996|PMID:15475387|PMID:15555211|PMID:15563510|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15926618|PMID:15955785|PMID:15991064|PMID:15996210|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16199547|PMID:16216036|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16616355|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16769400|PMID:16807412|PMID:16830052|PMID:16885385|PMID:16929514|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17054581|PMID:17074586|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17250665|PMID:17267619|PMID:17312306|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17889038|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18301448|PMID:18307539|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18470917|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18772310|PMID:18792805|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19339519|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19504447|PMID:19526325|PMID:19665066|PMID:19669161|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19863800|PMID:19931546|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20373145|PMID:20413677|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22034109|PMID:22081473|PMID:22136435|PMID:22290698|PMID:22322191|PMID:22453149|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22843852|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23329266|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23523604|PMID:23544471|PMID:23588873|PMID:23640085|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:23797718|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24090359|PMID:24278394|PMID:24302565|PMID:24323032|PMID:24333619 11891842 MLH1 mutL homolog 1 gene DOID:0070271 Lynch syndrome 1 ISO RGD:733729 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:24344984|PMID:24362816|PMID:24440087|PMID:24456667|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24933000|PMID:25110875|PMID:25117503|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25712765|PMID:25741868|PMID:25782445|PMID:25823662|PMID:25871441|PMID:25871621|PMID:25882375|PMID:25892863|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26552419|PMID:26580448|PMID:26628864|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26811195|PMID:26845104|PMID:26895986|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27295708|PMID:27435373|PMID:27487738|PMID:27498913|PMID:27535758|PMID:27553368|PMID:27601186|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27831900|PMID:27978560|PMID:28127413|PMID:28135145|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28495237|PMID:28514183|PMID:28526081|PMID:28643016|PMID:28767289|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29151953|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29288294|PMID:29345684|PMID:29360550|PMID:29368341|PMID:29478780|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29752822|PMID:29785566|PMID:29866690|PMID:29887214|PMID:30019097|PMID:30077346|PMID:30093976|PMID:30212499|PMID:30256826|PMID:30262796|PMID:30322717|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31248605|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31491536|PMID:31494577|PMID:31650731|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31830689|PMID:31857677|PMID:31881334|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32040686|PMID:32068069|PMID:32295079|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32661327|PMID:32741062|PMID:32761968|PMID:32832836|PMID:32849802|PMID:33199489|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:34039291|PMID:34545850|PMID:34680242|PMID:35223509|PMID:35467778|PMID:36073783|PMID:36988593|PMID:4063166|PMID:661956|PMID:7557107|PMID:7584997|PMID:7705822|PMID:7757073|PMID:8198129|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8940269|PMID:9071575|PMID:9218993|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9697702|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9927033 11891842 MLH1 mutL homolog 1 gene DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 ISO RGD:733729 D RGD:7240710 20180130 OMIM 11891842 MLH1 mutL homolog 1 gene DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2 | ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 | ClinVar Annotator: match by term: Lynch syndrome II PMID:08808596|PMID:10037723|PMID:10082584|PMID:10200055|PMID:10323887|PMID:10348818|PMID:10386556|PMID:10389971|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10480359|PMID:10495924|PMID:10533476|PMID:10564582|PMID:10573010|PMID:10598809|PMID:10601588|PMID:10612827|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10793088|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10970186|PMID:10995807|PMID:11015456|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11389087|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12173039|PMID:12183410|PMID:12362047|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12513688|PMID:12522551|PMID:12547705|PMID:12618391|PMID:12624141|PMID:12655568|PMID:12658575|PMID:12697830|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14762794|PMID:14871975|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15475387|PMID:15494688|PMID:15520370|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15845562|PMID:15849733|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15926618|PMID:15943554|PMID:15955785|PMID:15991064|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16216036|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16528606|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16995940|PMID:17011982|PMID:17054581|PMID:17074586|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17417778|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17666659|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18307539|PMID:18325052|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:19015241|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19142183|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19504447|PMID:19526325|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19863800|PMID:19931546|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20373145|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21286667|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21636617 11891842 MLH1 mutL homolog 1 gene DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2 | ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 | ClinVar Annotator: match by term: Lynch syndrome II PMID:21642682|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21785361|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22585170|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23354017|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23729658|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24278394|PMID:24292105|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24933000|PMID:24953332|PMID:24989436|PMID:25077178|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25338684|PMID:25430799|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25741868|PMID:25762362|PMID:25823662|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26485756|PMID:26510091|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26637282|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27295708|PMID:27300758|PMID:27435373|PMID:27449771|PMID:27487738|PMID:27498913|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28259476|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28687356|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29288294|PMID:29338689|PMID:29345684|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29752822|PMID:29758216|PMID:29785566|PMID:29866690|PMID:29887214|PMID:29922827|PMID:30019097|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30623411|PMID:30720243|PMID:30729418|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31248605|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31822864|PMID:31857677|PMID:31867841|PMID:31881334 11891842 MLH1 mutL homolog 1 gene DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 ISO RGD:733729 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2 | ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 | ClinVar Annotator: match by term: Lynch syndrome II PMID:31882575|PMID:31948886|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32156018|PMID:32241160|PMID:32295079|PMID:32363481|PMID:32459922|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32959997|PMID:32973888|PMID:32980694|PMID:33191490|PMID:33281875|PMID:33309985|PMID:33471991|PMID:33619096|PMID:33672345|PMID:33693762|PMID:33821390|PMID:33980423|PMID:34039291|PMID:34178123|PMID:34347074|PMID:34359559|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35223509|PMID:35263119|PMID:35467778|PMID:35884469|PMID:36988593|PMID:7557107|PMID:7584997|PMID:7757073|PMID:8128251|PMID:8145827|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8938136|PMID:8940269|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9272156|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9697702|PMID:9718327|PMID:9806477|PMID:9831355|PMID:9833759|PMID:9927033|PMID:9927034 11891842 MLH1 mutL homolog 1 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Turcot syndrome PMID:08808596|PMID:10037723|PMID:10348818|PMID:10422993|PMID:10480359|PMID:10573010|PMID:10713887|PMID:10861474|PMID:10874307|PMID:10923051|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11208710|PMID:11343035|PMID:11369138|PMID:11389087|PMID:11427529|PMID:11524701|PMID:11585727|PMID:11601928|PMID:11726306|PMID:11748856|PMID:11781295|PMID:11839723|PMID:11879922|PMID:11920458|PMID:11920650|PMID:12067992|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12362047|PMID:12377806|PMID:12624141|PMID:12658575|PMID:12799449|PMID:12810663|PMID:12919137|PMID:14514376|PMID:14635101|PMID:14762794|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15222003|PMID:15254659|PMID:15340264|PMID:15345113|PMID:15475387|PMID:15520370|PMID:15655560|PMID:15713769|PMID:15845562|PMID:15849733|PMID:15864295|PMID:15870828|PMID:15926618|PMID:15991306|PMID:15996210|PMID:16083711|PMID:16142001|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16451135|PMID:16528606|PMID:16724012|PMID:16769400|PMID:16807412|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17054581|PMID:17117178|PMID:17192056|PMID:17210669|PMID:17250665|PMID:17301300|PMID:17312306|PMID:17370310|PMID:17453009|PMID:17510385|PMID:17576681|PMID:17594722|PMID:17889038|PMID:17895478|PMID:18033691|PMID:18094436|PMID:18307539|PMID:18383312|PMID:18389388|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18809606|PMID:18931482|PMID:19015241|PMID:19116412|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19690142|PMID:19697156|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20223024|PMID:20233461|PMID:20373145|PMID:20533529|PMID:20858721|PMID:20924129|PMID:20978114|PMID:20978117|PMID:21056691|PMID:21120944|PMID:21247423|PMID:21387278|PMID:21404117|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21681552|PMID:21868491|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22252508|PMID:22290698|PMID:22585170|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22875147|PMID:22878509|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23354017|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24096645|PMID:24278394|PMID:24344984|PMID:24362816|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24933000|PMID:24953332|PMID:25111426|PMID:25115387|PMID:25133505|PMID:25142776|PMID:25157968|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25579085|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25823662|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26580448|PMID:26637282|PMID:26681312|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27121310|PMID:27152634|PMID:27153395|PMID:27498913|PMID:27600092|PMID:27601186|PMID:27606285|PMID:27629256|PMID:27732944|PMID:27831900|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28591715|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28874130|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29212164|PMID:29238914|PMID:29288294|PMID:29345684|PMID:29360550|PMID:29419868|PMID:29472279|PMID:29506128|PMID:29520894|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29887214|PMID:30077346|PMID:30093976|PMID:30238922|PMID:30262796|PMID:30309722|PMID:30322717|PMID:30362666|PMID:30521064|PMID:30720243|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31207149|PMID:31248605 11891842 MLH1 mutL homolog 1 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Turcot syndrome PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31697235|PMID:31784484|PMID:31822864|PMID:31867841|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32566746|PMID:32587781|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32959997|PMID:33191490|PMID:33281875|PMID:33471991|PMID:33821390|PMID:33980423|PMID:34408140|PMID:35223509|PMID:7757073|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8993979|PMID:9032648|PMID:9234704|PMID:9377556|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9927033|PMID:9927034 11891842 MLH1 mutL homolog 1 gene DOID:10534 stomach cancer ISO RGD:733729 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10471527|PMID:11151427|PMID:12362047|PMID:12547705|PMID:12624141|PMID:12655568|PMID:14871975|PMID:14961575|PMID:15300854|PMID:15309712|PMID:15713769|PMID:15849733|PMID:16199547|PMID:16216036|PMID:16341550|PMID:16451135|PMID:17453009|PMID:17569143|PMID:17576681|PMID:18561205|PMID:19690142|PMID:19731080|PMID:20233461|PMID:21034533|PMID:21311894|PMID:21681552|PMID:22886683|PMID:23760103|PMID:24333619|PMID:24362816|PMID:25110875|PMID:25430799|PMID:25525159|PMID:25712765|PMID:25741868|PMID:25892863|PMID:25980754|PMID:26248088|PMID:26300997|PMID:26437257|PMID:26467025|PMID:27435373|PMID:27601186|PMID:27696107|PMID:28127413|PMID:28492532|PMID:28643016|PMID:29212164|PMID:29237405|PMID:29887214|PMID:30256826|PMID:30504929|PMID:30521064|PMID:31942411|PMID:32761968|PMID:36988593|PMID:8571956|PMID:9536098 11891842 MLH1 mutL homolog 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:733729 D RGD:9068941 20200609 RGD PMID:15296997|REF_RGD_ID:2293518 11891842 MLH1 mutL homolog 1 gene DOID:1324 lung cancer ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:25420488|PMID:26845104|PMID:28492532|PMID:30702970 11891842 MLH1 mutL homolog 1 gene DOID:1324 lung cancer no_association ISO RGD:733729 D RGD:9068941 20210430 RGD DNA:SNP: :9452A>T (rs1540354) (human) PMID:21093954|REF_RGD_ID:126848792 11891842 MLH1 mutL homolog 1 gene DOID:1324 lung cancer susceptibility ISO RGD:733729 D RGD:9068941 20210507 RGD DNA:SNP: :rs1800734 (human) PMID:25252909|REF_RGD_ID:126848798 11891842 MLH1 mutL homolog 1 gene DOID:1520 colon carcinoma ISO RGD:733729 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10082584|PMID:10323887|PMID:10386556|PMID:10389971|PMID:10422993|PMID:10480359|PMID:10495924|PMID:10573010|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10777691|PMID:10882759|PMID:11112663|PMID:11139242|PMID:11524701|PMID:11555625|PMID:11748856|PMID:11781295|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12070261|PMID:12173039|PMID:12183410|PMID:12362047|PMID:12362848|PMID:12386821|PMID:12414623|PMID:12419761|PMID:12513688|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12624141|PMID:12655562|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12799449|PMID:12810663|PMID:14504054|PMID:14526391|PMID:14635101|PMID:14699485|PMID:14762794|PMID:15289847|PMID:15300854|PMID:15342696|PMID:15365995|PMID:15365996|PMID:15475387|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15870828|PMID:15926618|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16181381|PMID:16199547|PMID:16216036|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16636019|PMID:16830052|PMID:16963262|PMID:16995940|PMID:17054581|PMID:17135187|PMID:17192056|PMID:17210669|PMID:17312306|PMID:17453009|PMID:17473388|PMID:17510385|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18726168|PMID:18772310|PMID:18931482|PMID:19072991|PMID:19224586|PMID:19267393|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:20020535|PMID:20045164|PMID:20176959|PMID:20223024|PMID:20233461|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20864636|PMID:20937110|PMID:21120944|PMID:21155023|PMID:21239990|PMID:21286667|PMID:21311894|PMID:21404117|PMID:21520333|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21901500|PMID:21952876|PMID:22136435|PMID:22290698|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22854115|PMID:22883484|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23403630|PMID:23729658|PMID:23741719|PMID:23752102|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24278394|PMID:24292105|PMID:24344984|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24728327|PMID:24802709|PMID:24933000|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25338684|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25871441|PMID:25871621|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26096739|PMID:26247049|PMID:26248088|PMID:26300997|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26510091|PMID:26557847|PMID:26659639|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26845104|PMID:26888055|PMID:26895986|PMID:27064304|PMID:27093186|PMID:27152634|PMID:27173243|PMID:27295708|PMID:27435373|PMID:27487738|PMID:27553368|PMID:27601186|PMID:27629256|PMID:27831900|PMID:28135145|PMID:28445943|PMID:28492532|PMID:28514183|PMID:28767289|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29151953|PMID:29288294|PMID:29345684|PMID:29472279|PMID:29505604|PMID:29755653|PMID:29887214|PMID:30077346|PMID:30212499|PMID:30274973|PMID:30322717|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30850667|PMID:31118792|PMID:31273614|PMID:31273885|PMID:31494577|PMID:31666926|PMID:31697235|PMID:31857677|PMID:31882575|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32809219|PMID:32849802|PMID:32885271|PMID:33199489|PMID:33303966|PMID:34221829|PMID:34504932|PMID:8521398|PMID:8581513|PMID:8776590|PMID:8797773|PMID:9071575|PMID:9234704|PMID:9298827|PMID:9311737|PMID:9419403|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9697702|PMID:9845760 11891842 MLH1 mutL homolog 1 gene DOID:1520 colon carcinoma ISO RGD:733729 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10082584|PMID:10323887|PMID:10386556|PMID:10389971|PMID:10422993|PMID:10480359|PMID:10495924|PMID:10573010|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10777691|PMID:10882759|PMID:11112663|PMID:11139242|PMID:11304573|PMID:11524701|PMID:11555625|PMID:11748856|PMID:11781295|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12070261|PMID:12173039|PMID:12183410|PMID:12362047|PMID:12362848|PMID:12386821|PMID:12414623|PMID:12419761|PMID:12513688|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12624141|PMID:12655562|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12799449|PMID:12810663|PMID:14504054|PMID:14526391|PMID:14635101|PMID:14699485|PMID:14762794|PMID:15289847|PMID:15300854|PMID:15342696|PMID:15365995|PMID:15365996|PMID:15475387|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15870828|PMID:15926618|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16181381|PMID:16199547|PMID:16216036|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16636019|PMID:16830052|PMID:16963262|PMID:16995940|PMID:17054581|PMID:17135187|PMID:17192056|PMID:17210669|PMID:17312306|PMID:17453009|PMID:17473388|PMID:17510385|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18726168|PMID:18772310|PMID:18931482|PMID:19072991|PMID:19224586|PMID:19267393|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:20020535|PMID:20045164|PMID:20176959|PMID:20223024|PMID:20233461|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20864636|PMID:20937110|PMID:21120944|PMID:21155023|PMID:21239990|PMID:21286667|PMID:21311894|PMID:21404117|PMID:21520333|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21901500|PMID:21952876|PMID:22136435|PMID:22290698|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22854115|PMID:22883484|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23403630|PMID:23729658|PMID:23741719|PMID:23752102|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24278394|PMID:24292105|PMID:24344984|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24728327|PMID:24802709|PMID:24933000|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25338684|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25871441|PMID:25871621|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26096739|PMID:26247049|PMID:26248088|PMID:26300997|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26510091|PMID:26557847|PMID:26659639|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26845104|PMID:26888055|PMID:26895986|PMID:27064304|PMID:27093186|PMID:27152634|PMID:27173243|PMID:27295708|PMID:27435373|PMID:27487738|PMID:27553368|PMID:27601186|PMID:27629256|PMID:27831900|PMID:28135145|PMID:28445943|PMID:28492532|PMID:28514183|PMID:28767289|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29151953|PMID:29288294|PMID:29345684|PMID:29472279|PMID:29505604|PMID:29755653|PMID:29887214|PMID:30077346|PMID:30212499|PMID:30274973|PMID:30322717|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30850667|PMID:31118792|PMID:31273614|PMID:31273885|PMID:31494577|PMID:31666926|PMID:31697235|PMID:31857677|PMID:31882575|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32809219|PMID:32849802|PMID:32885271|PMID:33199489|PMID:33303966|PMID:34221829|PMID:34504932|PMID:8521398|PMID:8581513|PMID:8776590|PMID:8797773|PMID:9071575|PMID:9234704|PMID:9298827|PMID:9311737|PMID:9419403|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9697702|PMID:9845760 11891842 MLH1 mutL homolog 1 gene DOID:1520 colon carcinoma ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10082584|PMID:10323887|PMID:10386556|PMID:10389971|PMID:10422993|PMID:10480359|PMID:10495924|PMID:10573010|PMID:10612827|PMID:10660333|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10777691|PMID:10882759|PMID:11112663|PMID:11139242|PMID:11304573|PMID:11524701|PMID:11555625|PMID:11748856|PMID:11781295|PMID:11793442|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12067992|PMID:12070261|PMID:12173039|PMID:12183410|PMID:12362047|PMID:12362848|PMID:12386821|PMID:12414623|PMID:12419761|PMID:12513688|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12624141|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12799449|PMID:12810663|PMID:14504054|PMID:14526391|PMID:14635101|PMID:14699485|PMID:14762794|PMID:15289847|PMID:15300854|PMID:15342696|PMID:15365995|PMID:15365996|PMID:15475387|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15870828|PMID:15926618|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16181381|PMID:16199547|PMID:16216036|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16636019|PMID:16830052|PMID:16963262|PMID:16995940|PMID:17054581|PMID:17135187|PMID:17192056|PMID:17210669|PMID:17312306|PMID:17453009|PMID:17473388|PMID:17510385|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18726168|PMID:18772310|PMID:18931482|PMID:19072991|PMID:19224586|PMID:19267393|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:20020535|PMID:20045164|PMID:20176959|PMID:20223024|PMID:20233461|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20717847|PMID:20864636|PMID:20937110|PMID:21120944|PMID:21155023|PMID:21239990|PMID:21286667|PMID:21311894|PMID:21404117|PMID:21520333|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21901500|PMID:21952876|PMID:22136435|PMID:22290698|PMID:22480969|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22854115|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23403630|PMID:23729658|PMID:23741719|PMID:23752102|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24278394|PMID:24292105|PMID:24344984|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24733792|PMID:24802709|PMID:24933000|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25338684|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25871441|PMID:25871621|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26096739|PMID:26247049|PMID:26248088|PMID:26300997|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26510091|PMID:26557847|PMID:26659639|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26845104|PMID:26888055|PMID:26895986|PMID:27064304|PMID:27093186|PMID:27152634|PMID:27173243|PMID:27295708|PMID:27435373|PMID:27487738|PMID:27553368|PMID:27601186|PMID:27602174|PMID:27629256|PMID:27831900|PMID:28135145|PMID:28445943|PMID:28492532|PMID:28514183|PMID:28767289|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29151953|PMID:29288294|PMID:29345684|PMID:29472279|PMID:29505604|PMID:29755653|PMID:29887214|PMID:30077346|PMID:30212499|PMID:30322717|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30850667|PMID:31118792|PMID:31273614|PMID:31273885|PMID:31494577|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31815095|PMID:31857677|PMID:31882575|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32809219|PMID:32849802|PMID:32885271|PMID:33199489|PMID:33303966|PMID:34221829|PMID:34504932|PMID:7757073|PMID:8521398|PMID:8571956|PMID:8581513|PMID:8776590|PMID:8797773|PMID:9071575|PMID:9234704|PMID:9298827|PMID:9311737|PMID:9419403|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9697702|PMID:9845760 11891842 MLH1 mutL homolog 1 gene DOID:1612 breast cancer ISO RGD:733729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10446963|PMID:10713887|PMID:11606497|PMID:11726306|PMID:11839723|PMID:11920650|PMID:12095971|PMID:15520370|PMID:15943554|PMID:16203774|PMID:16395668|PMID:17011982|PMID:17117178|PMID:17453009|PMID:17510385|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18561205|PMID:18566915|PMID:18809606|PMID:19117025|PMID:19224586|PMID:20373145|PMID:21404117|PMID:21671475|PMID:21681552|PMID:22252508|PMID:22703879|PMID:22736432|PMID:22875147|PMID:22878509|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23354017|PMID:23403630|PMID:23573243|PMID:24033266|PMID:24096645|PMID:24278394|PMID:24344984|PMID:24728327|PMID:25186627|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25871441|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27498913|PMID:27601186|PMID:28466842|PMID:28492532|PMID:28767289|PMID:28874130|PMID:29520894|PMID:29684080|PMID:30504929|PMID:30998989|PMID:31332305|PMID:31391288|PMID:31784484|PMID:32659497|PMID:33471991|PMID:33821390|PMID:9506527|PMID:9718327 11891842 MLH1 mutL homolog 1 gene DOID:1749 squamous cell carcinoma ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 11891842 MLH1 mutL homolog 1 gene DOID:1791 peritoneal carcinoma ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary peritoneal carcinoma PMID:25741868 11891842 MLH1 mutL homolog 1 gene DOID:219 colon cancer ISO RGD:733729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:08808596|PMID:11112663|PMID:11151427|PMID:11601928|PMID:12547705|PMID:14514376|PMID:14635101|PMID:15571801|PMID:15713769|PMID:15849733|PMID:15996210|PMID:16199547|PMID:16216036|PMID:16341550|PMID:16395668|PMID:16451135|PMID:17453009|PMID:17576681|PMID:18415027|PMID:18561205|PMID:18625694|PMID:18931482|PMID:19669161|PMID:19731080|PMID:20223024|PMID:21387278|PMID:21598002|PMID:21642682|PMID:23702729|PMID:24278394|PMID:24362816|PMID:24456667|PMID:25741868|PMID:26248088|PMID:26300997|PMID:26467025|PMID:26681312|PMID:28445943|PMID:28449805|PMID:28492532|PMID:29506128|PMID:33693762|PMID:8808596|PMID:9311737|PMID:9536098 11891842 MLH1 mutL homolog 1 gene DOID:219 colon cancer disease_progression ISO RGD:733729 D RGD:9068941 20210430 RGD PMID:28411881|REF_RGD_ID:126790577 11891842 MLH1 mutL homolog 1 gene DOID:2394 ovarian cancer ISO RGD:733729 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:22216297|PMID:23047549|PMID:23573243|PMID:24033266|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30086788|PMID:30267214|PMID:30324682|PMID:32068069|PMID:32255556|PMID:32566746|PMID:33471991|PMID:34172528 11891842 MLH1 mutL homolog 1 gene DOID:2871 endometrial carcinoma ISO RGD:733729 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10323887|PMID:10480359|PMID:10732761|PMID:11112663|PMID:11385712|PMID:11429708|PMID:11524701|PMID:11555625|PMID:11601928|PMID:11781295|PMID:11948175|PMID:12112654|PMID:12115348|PMID:12362047|PMID:12373605|PMID:12377806|PMID:12522551|PMID:12547705|PMID:12618391|PMID:12624141|PMID:12655568|PMID:12658575|PMID:12810663|PMID:12919140|PMID:14871975|PMID:15133479|PMID:15300854|PMID:15309712|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15872200|PMID:15926618|PMID:15955785|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16451135|PMID:16830052|PMID:16995940|PMID:17054581|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17453009|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:18373977|PMID:18383312|PMID:18470917|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18772310|PMID:19224586|PMID:19267393|PMID:19690142|PMID:19698169|PMID:19863800|PMID:20020535|PMID:20215533|PMID:20233461|PMID:20937110|PMID:21034533|PMID:21056691|PMID:21311894|PMID:21598002|PMID:21681552|PMID:22322191|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22886683|PMID:22949387|PMID:23329266|PMID:23403630|PMID:23695190|PMID:23760103|PMID:23797718|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24323032|PMID:24333619|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25117503|PMID:25430799|PMID:25637381|PMID:25741868|PMID:25892863|PMID:25980754|PMID:26053027|PMID:26096739|PMID:26248088|PMID:26300997|PMID:26332594|PMID:26437257|PMID:26467025|PMID:26666765|PMID:26681312|PMID:26845104|PMID:26895986|PMID:27153395|PMID:27435373|PMID:27535758|PMID:27600092|PMID:27601186|PMID:27696107|PMID:28127413|PMID:28135145|PMID:28449805|PMID:28492532|PMID:28643016|PMID:28874130|PMID:29212164|PMID:29237405|PMID:29752822|PMID:29887214|PMID:30256826|PMID:30521064|PMID:31054147|PMID:31159747|PMID:31350202|PMID:31491536|PMID:31784484|PMID:31948886|PMID:32295079|PMID:32849802|PMID:33471991|PMID:34039291|PMID:34408140|PMID:34680242|PMID:36988593|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8592341|PMID:8797773|PMID:8872463|PMID:9322509|PMID:9526167|PMID:9536098|PMID:9697702|PMID:9806477|PMID:9833759 11891842 MLH1 mutL homolog 1 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:733729 D RGD:9068941 20210430 RGD mRNA:decreased expression:larynx PMID:23787767|REF_RGD_ID:126848783 11891842 MLH1 mutL homolog 1 gene DOID:3070 high grade glioma ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 2 PMID:25741868|PMID:28492532 11891842 MLH1 mutL homolog 1 gene DOID:3459 breast carcinoma ISO RGD:733729 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:15713769|PMID:16083711|PMID:17510385|PMID:20020535|PMID:20533529|PMID:21120944|PMID:21404117|PMID:23403630|PMID:24362816|PMID:25741868|PMID:28492532|PMID:28643016 11891842 MLH1 mutL homolog 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:15340264|PMID:17510385|PMID:18307539|PMID:19419416|PMID:22136435|PMID:22703879|PMID:24033266|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25823662|PMID:28492532 11891842 MLH1 mutL homolog 1 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:733729 D RGD:9068941 20210430 RGD DNA, protein:hypermethylation, decreased expression:promoter, esophagus PMID:21674174|REF_RGD_ID:126790574 11891842 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11260232|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11857745|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12402334|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12494471|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12624159|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12697830|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:12938096|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14728922|PMID:14729822|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15483016|PMID:15494688|PMID:15507669|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15923275|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15949572|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528605|PMID:16541406|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16807412|PMID:16810763|PMID:16817031|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16941473|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17228328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18301448|PMID:18307539 11891842 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18547406|PMID:18556772|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20858721|PMID:20864636|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22136435|PMID:22144684|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23712482|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:25006859|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26659599|PMID:26659639|PMID:26666765 11891842 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26681312|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27284491|PMID:27295708|PMID:27300758|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27527004|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27854218|PMID:27930734|PMID:27978560|PMID:28090092|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28591715|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29684080|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30306255|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31857677|PMID:31867841|PMID:31882575|PMID:32039725|PMID:32068069|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32363481|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32849802|PMID:32914570|PMID:32941469|PMID:32959997|PMID:32986223|PMID:33191490|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33471991|PMID:33619096|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34404389|PMID:4063166|PMID:5713769|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9482749|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9927033|PMID:9927034 11891842 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18415027|PMID:18470917|PMID:18518984|PMID:18547406|PMID:18556772|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19173287|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20858721|PMID:20864636|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22136435|PMID:22144684|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23712482|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104 11891842 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27284491|PMID:27295708|PMID:27300758|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27527004|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27854218|PMID:27930734|PMID:27978560|PMID:28090092|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28591715|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30306255|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31857677|PMID:31867841|PMID:31882575|PMID:32039725|PMID:32068069|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32363481|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32809219|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32941469|PMID:32959997|PMID:32986223|PMID:33191490|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33471991|PMID:33619096|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34404389|PMID:34504932|PMID:4063166|PMID:5713769|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9927033|PMID:9927034 11891842 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26845104|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27284491|PMID:27295708|PMID:27300758|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27527004|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27854218|PMID:27930734|PMID:27978560|PMID:28090092|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28591715|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30306255|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31857677|PMID:31867841|PMID:31882575|PMID:32039725|PMID:32068069|PMID:32133419|PMID:32156018|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32363481|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32941469|PMID:32959997|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33471991|PMID:33619096|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34172528|PMID:34359559|PMID:34404389|PMID:34504932|PMID:4063166|PMID:5713769|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9927033|PMID:9927034 11891842 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12494471|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12624159|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:12938096|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14729822|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15483016|PMID:15494688|PMID:15507669|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15923275|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15949572|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528606|PMID:16541406|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16817031|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16941473|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17228328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769 11891842 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18556772|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19173287|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24989436|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049 11891842 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33619096 11891842 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34680242|PMID:35223509|PMID:35263119|PMID:35467778|PMID:36073783|PMID:4063166|PMID:5713769|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034 11891842 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11260232|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11857745|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12110639|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12402334|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12494471|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12624159|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12891553|PMID:12919137|PMID:12919140|PMID:12938096|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14728922|PMID:14729822|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15483016|PMID:15494688|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15923275|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15949572|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528605|PMID:16528606|PMID:16541406|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16817031|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16941473|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17228328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423 11891842 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18283312|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18556772|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19173287|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24989436|PMID:25006859|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662 11891842 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:2615136|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294 11891842 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35223509|PMID:35263119|PMID:35467778|PMID:35884469|PMID:36073783|PMID:4063166|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034 11891842 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11260232|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11857745|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12110639|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12402334|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12494471|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12624159|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12891553|PMID:12919137|PMID:12919140|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14728922|PMID:14729822|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15483016|PMID:15494688|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15923275|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15949572|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528605|PMID:16528606|PMID:16541406|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16817031|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16941473|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17228328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17690979 11891842 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18283312|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18556772|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19173287|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21788563|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24733792|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24989436|PMID:25006859|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25741868|PMID:25762362 11891842 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:2615136|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311 11891842 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35223509|PMID:35263119|PMID:35467778|PMID:35884469|PMID:36054288|PMID:36073783|PMID:4063166|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034 11891842 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26053027|PMID:26078562|PMID:26096739|PMID:2615136|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32587781 11891842 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35223509|PMID:35263119|PMID:35467778|PMID:35670670|PMID:35884469|PMID:36054288|PMID:36073783|PMID:36988593|PMID:4063166|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034 11891842 MLH1 mutL homolog 1 gene DOID:3905 lung carcinoma ISO RGD:620937 D RGD:9068941 20200609 RGD PMID:21530494|REF_RGD_ID:10045659 11891842 MLH1 mutL homolog 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733729 D RGD:9068941 20210430 RGD PMID:32211850|REF_RGD_ID:126848780 11891842 MLH1 mutL homolog 1 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:733729 D RGD:9068941 20210507 RGD PMID:18370958|REF_RGD_ID:126848801 11891842 MLH1 mutL homolog 1 gene DOID:3910 lung adenocarcinoma ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:15340264|PMID:17510385|PMID:18307539|PMID:19419416|PMID:22136435|PMID:22703879|PMID:24033266|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25823662|PMID:27993330|PMID:28492532 11891842 MLH1 mutL homolog 1 gene DOID:3948 adrenocortical carcinoma ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 11891842 MLH1 mutL homolog 1 gene DOID:4450 renal cell carcinoma ISO RGD:733729 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:16426918|REF_RGD_ID:2293509 11891842 MLH1 mutL homolog 1 gene DOID:4606 bile duct cancer ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bile duct cancer PMID:15340264|PMID:17510385|PMID:18307539|PMID:19419416|PMID:22136435|PMID:22703879|PMID:24033266|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25823662|PMID:28492532 11891842 MLH1 mutL homolog 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10323887|PMID:10348818|PMID:10495924|PMID:10573010|PMID:10709098|PMID:11342971|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11781295|PMID:11839723|PMID:11920458|PMID:11948175|PMID:12362047|PMID:12419761|PMID:12810663|PMID:14688830|PMID:15222003|PMID:15342696|PMID:15613555|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15955785|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18931482|PMID:19117025|PMID:19224586|PMID:19267393|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21155023|PMID:21239990|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23403630|PMID:23431106|PMID:23573243|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24323032|PMID:24362816|PMID:24549055|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25115387|PMID:25338684|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26332594|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27487738|PMID:27553368|PMID:27732944|PMID:27831900|PMID:28090092|PMID:28449805|PMID:28492532|PMID:28526081|PMID:28724667|PMID:28767289|PMID:28822769|PMID:29050249|PMID:29360550|PMID:29419868|PMID:29505604|PMID:29785566|PMID:29887214|PMID:30093976|PMID:30850667|PMID:30982232|PMID:31118792|PMID:31127692|PMID:31273885|PMID:31386297|PMID:31470354|PMID:31666926|PMID:31784484|PMID:31867841|PMID:32068069|PMID:32255556|PMID:32295079|PMID:32566746|PMID:32710294|PMID:33471991|PMID:7757073|PMID:8581513|PMID:8797773|PMID:8872463|PMID:8993976|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9833759 11891842 MLH1 mutL homolog 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733729 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10323887|PMID:10348818|PMID:10495924|PMID:10573010|PMID:10709098|PMID:11342971|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11781295|PMID:11839723|PMID:11920458|PMID:11948175|PMID:12362047|PMID:12419761|PMID:12810663|PMID:14688830|PMID:15222003|PMID:15342696|PMID:15613555|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15955785|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18931482|PMID:19117025|PMID:19224586|PMID:19267393|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21155023|PMID:21239990|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23403630|PMID:23431106|PMID:23573243|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24323032|PMID:24362816|PMID:24549055|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25115387|PMID:25338684|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26332594|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27487738|PMID:27553368|PMID:27732944|PMID:27831900|PMID:28090092|PMID:28449805|PMID:28492532|PMID:28526081|PMID:28724667|PMID:28767289|PMID:28822769|PMID:29050249|PMID:29360550|PMID:29419868|PMID:29505604|PMID:29785566|PMID:29887214|PMID:30093976|PMID:30850667|PMID:30982232|PMID:31118792|PMID:31127692|PMID:31273885|PMID:31386297|PMID:31470354|PMID:31666926|PMID:31784484|PMID:31867841|PMID:32068069|PMID:32255556|PMID:32295079|PMID:32566746|PMID:32710294|PMID:32832836|PMID:33471991|PMID:7757073|PMID:8581513|PMID:8797773|PMID:8872463|PMID:8993976|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9833759 11891842 MLH1 mutL homolog 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733729 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10323887|PMID:10348818|PMID:10495924|PMID:10573010|PMID:10709098|PMID:11342971|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11781295|PMID:11839723|PMID:11920458|PMID:11948175|PMID:12362047|PMID:12419761|PMID:12810663|PMID:14688830|PMID:15184898|PMID:15222003|PMID:15342696|PMID:15613555|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15955785|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18931482|PMID:19117025|PMID:19224586|PMID:19267393|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21155023|PMID:21239990|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23403630|PMID:23431106|PMID:23573243|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24323032|PMID:24362816|PMID:24549055|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25115387|PMID:25338684|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26332594|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27487738|PMID:27535758|PMID:27553368|PMID:27732944|PMID:27831900|PMID:28449805|PMID:28492532|PMID:28526081|PMID:28724667|PMID:28767289|PMID:28822769|PMID:29050249|PMID:29360550|PMID:29419868|PMID:29505604|PMID:29785566|PMID:29887214|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30850667|PMID:30982232|PMID:31118792|PMID:31127692|PMID:31273885|PMID:31386297|PMID:31422818|PMID:31470354|PMID:31666926|PMID:31784484|PMID:31867841|PMID:32068069|PMID:32206572|PMID:32255556|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32710294|PMID:32719484|PMID:32832836|PMID:33309985|PMID:33471991|PMID:7757073|PMID:8581513|PMID:8797773|PMID:8872463|PMID:8993976|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9833759 11891842 MLH1 mutL homolog 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10323887|PMID:10348818|PMID:10495924|PMID:10573010|PMID:10709098|PMID:11342971|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11781295|PMID:11839723|PMID:11920458|PMID:11948175|PMID:12362047|PMID:12419761|PMID:12810663|PMID:14688830|PMID:15184898|PMID:15222003|PMID:15342696|PMID:15613555|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15955785|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18931482|PMID:19117025|PMID:19224586|PMID:19267393|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21155023|PMID:21239990|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23403630|PMID:23431106|PMID:23573243|PMID:23695190|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24323032|PMID:24362816|PMID:24549055|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25115387|PMID:25338684|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26332594|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27487738|PMID:27535758|PMID:27553368|PMID:27732944|PMID:27831900|PMID:28449805|PMID:28492532|PMID:28526081|PMID:28724667|PMID:28767289|PMID:28822769|PMID:29050249|PMID:29360550|PMID:29419868|PMID:29505604|PMID:29785566|PMID:29887214|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30623411|PMID:30850667|PMID:30982232|PMID:31118792|PMID:31127692|PMID:31273885|PMID:31332305|PMID:31386297|PMID:31422818|PMID:31470354|PMID:31666926|PMID:31784484|PMID:31867841|PMID:32068069|PMID:32133419|PMID:32206572|PMID:32255556|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32710294|PMID:32719484|PMID:32832836|PMID:33309985|PMID:33471991|PMID:7757073|PMID:8581513|PMID:8797773|PMID:8872463|PMID:8993976|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9833759 11891842 MLH1 mutL homolog 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10323887|PMID:10348818|PMID:10386556|PMID:10389971|PMID:10446963|PMID:10448273|PMID:10495924|PMID:10573010|PMID:10601588|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10861474|PMID:10874307|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11606497|PMID:11726306|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12070261|PMID:12362047|PMID:12377806|PMID:12419761|PMID:12513688|PMID:12547705|PMID:12624141|PMID:12810663|PMID:14512394|PMID:14688830|PMID:15184898|PMID:15222003|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15475387|PMID:15520370|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15943554|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16203774|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16736289|PMID:16769400|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16995940|PMID:17011982|PMID:17117178|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17370310|PMID:17453009|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17889038|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18307539|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18792805|PMID:18931482|PMID:19117025|PMID:19224586|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20176959|PMID:20223024|PMID:20473912|PMID:20924129|PMID:20978114|PMID:20978117|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21311894|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21868491|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22875147|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23403630|PMID:23431106|PMID:23523604|PMID:23573243|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24278394|PMID:24323032|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24933000|PMID:24953332|PMID:25115387|PMID:25133505|PMID:25157968|PMID:25338684|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25823662|PMID:25871441|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26249686|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26888055|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27300758|PMID:27487738|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27601186|PMID:27606285|PMID:27696107|PMID:27732944|PMID:27831900|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28526081|PMID:28724667|PMID:28767289|PMID:28822769|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29050249|PMID:29360550|PMID:29419868|PMID:29472279|PMID:29505604|PMID:29575718|PMID:29785566|PMID:29887214|PMID:30093976|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30521064|PMID:30623411|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31470354|PMID:31666926|PMID:31784484|PMID:31867841|PMID:31882575|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32206572|PMID:32255556|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32710294|PMID:32719484|PMID:32832836|PMID:33309985|PMID:33471991|PMID:7757073|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8797773|PMID:8872463|PMID:8993976|PMID:9052445|PMID:9071575|PMID:9298827|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527 11891842 MLH1 mutL homolog 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:9526167|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9833759|PMID:9927033 11891842 MLH1 mutL homolog 1 gene DOID:630 genetic disease ISO RGD:733729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11891842 MLH1 mutL homolog 1 gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:733729 D RGD:9068941 20210507 RGD PMID:23810210|REF_RGD_ID:126848799 11891842 MLH1 mutL homolog 1 gene DOID:8029 sporadic breast cancer ISO RGD:733729 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, breast PMID:12173039|REF_RGD_ID:2293522 11891842 MLH1 mutL homolog 1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:733729 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:15807307|REF_RGD_ID:2293515 11891842 MLH1 mutL homolog 1 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:733729 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:testis PMID:16309235|REF_RGD_ID:2293510 11891842 MLH1 mutL homolog 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17717427 11891842 MLH1 mutL homolog 1 gene DOID:9001030 Multiple Primary Neoplasms ISO RGD:733729 D RGD:9068941 20200609 RGD PMID:8829664|REF_RGD_ID:1625108 11891842 MLH1 mutL homolog 1 gene DOID:9001642 Intestinal Polyps ISO RGD:733729 D RGD:9068941 20210430 RGD DNA:SNP:p.V384D (human) PMID:25561800|REF_RGD_ID:126790576 11891842 MLH1 mutL homolog 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15583422 11891842 MLH1 mutL homolog 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19032668 11891842 MLH1 mutL homolog 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:733729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colonic Neoplasms | ClinVar Annotator: match by term: Colonic neoplasm PMID:11524701|PMID:11781295|PMID:12658575|PMID:15713769|PMID:15849733|PMID:15872200|PMID:15955785|PMID:16395668|PMID:17054581|PMID:20937110|PMID:24710284|PMID:25741868|PMID:26467025|PMID:26666765|PMID:26895986|PMID:28492532|PMID:28874130|PMID:32658311|PMID:8797773 11891842 MLH1 mutL homolog 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:733729 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix PMID:15807307|REF_RGD_ID:2293515 11891842 MLH1 mutL homolog 1 gene DOID:9003892 Mismatch Repair Cancer Syndrome 1 ISO RGD:733729 D RGD:7240710 20201202 OMIM 11891842 MLH1 mutL homolog 1 gene DOID:9003892 Mismatch Repair Cancer Syndrome 1 ISO RGD:733729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 PMID:10422993|PMID:10713887|PMID:10874307|PMID:11208710|PMID:11343035|PMID:11585727|PMID:11920650|PMID:12658575|PMID:14635101|PMID:15173238|PMID:15655560|PMID:15713769|PMID:15849733|PMID:15870828|PMID:15996210|PMID:16769400|PMID:17312306|PMID:17889038|PMID:18561205|PMID:18726168|PMID:19116412|PMID:19690142|PMID:19731080|PMID:20045164|PMID:20052760|PMID:20233461|PMID:20924129|PMID:21056691|PMID:21247423|PMID:21636617|PMID:21681552|PMID:21868491|PMID:22776989|PMID:23047549|PMID:24033266|PMID:24278394|PMID:24344984|PMID:24362816|PMID:24456667|PMID:25525159|PMID:25741868|PMID:26437257|PMID:26467025|PMID:26681312|PMID:27064304|PMID:27498913|PMID:27601186|PMID:27606285|PMID:27978560|PMID:28445943|PMID:28449805|PMID:28492532|PMID:28514183|PMID:28874130|PMID:28944238|PMID:29238914|PMID:29345684|PMID:30077346|PMID:30262796|PMID:30322717|PMID:30521064|PMID:30982232|PMID:31118792|PMID:31248605|PMID:31391288|PMID:32040686|PMID:32635641|PMID:35223509|PMID:8872463|PMID:9377556|PMID:9927033 11891842 MLH1 mutL homolog 1 gene DOID:9005147 Hydatidiform Mole ISO RGD:733729 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell PMID:15338238|REF_RGD_ID:2293517 11891842 MLH1 mutL homolog 1 gene DOID:9005804 Vulvar Neoplasms ISO RGD:733729 D RGD:9068941 20200609 RGD protein:increased expression:vulva PMID:15870899|REF_RGD_ID:2293514 11891842 MLH1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10323887|PMID:10348818|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10734316|PMID:10793088|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11292842|PMID:11304573|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12215842|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12697830|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14985405|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15494688|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15926618|PMID:15943554|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17222328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17889038|PMID:17895478|PMID:17931073|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18547406|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19142183|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153 11891842 MLH1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20373145|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22136435|PMID:22144684|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24953332|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27284491|PMID:27295708|PMID:27300758|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27527004|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27930734|PMID:27978560|PMID:28090092|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28591715|PMID:28640387|PMID:28687356 11891842 MLH1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28724667|PMID:28727142|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29684080|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31882575|PMID:32039725|PMID:32068069|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32363481|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32849802|PMID:32914570|PMID:32959997|PMID:32986223|PMID:33191490|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33471991|PMID:33619096|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34404389|PMID:5713769|PMID:6083711|PMID:661956|PMID:7557107|PMID:7704024|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8971183|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9927033 11891842 MLH1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20373145|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22136435|PMID:22144684|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24953332|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27284491|PMID:27295708|PMID:27300758|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27527004|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27854218|PMID:27930734|PMID:27978560|PMID:28090092|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28591715 11891842 MLH1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28640387|PMID:28687356|PMID:28724667|PMID:28727142|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31882575|PMID:32039725|PMID:32068069|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32363481|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32809219|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32959997|PMID:32986223|PMID:33191490|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33471991|PMID:33619096|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34404389|PMID:34504932|PMID:5713769|PMID:6083711|PMID:661956|PMID:7557107|PMID:7704024|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8971183|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9927033 11891842 MLH1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20373145|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22136435|PMID:22144684|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24953332|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27284491|PMID:27295708|PMID:27300758|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27527004|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27854218|PMID:27930734|PMID:27978560|PMID:28090092|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081 11891842 MLH1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28528518|PMID:28529006|PMID:28591715|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31882575|PMID:32039725|PMID:32068069|PMID:32133419|PMID:32156018|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32363481|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32959997|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33471991|PMID:33619096|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34172528|PMID:34359559|PMID:34404389|PMID:34504932|PMID:35263119|PMID:5713769|PMID:6083711|PMID:661956|PMID:7557107|PMID:7704024|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8971183|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9927033 11891842 MLH1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11066084|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12215842|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15494688|PMID:15507669|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15677628|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528606|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17666659|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18337503 11891842 MLH1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18769833|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19133695|PMID:19142183|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24415873|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24612714|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24953332|PMID:24989436|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25123297|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25712765|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091 11891842 MLH1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26710000|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27013479|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:28975465|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279230|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31780705|PMID:31784484|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31942411|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32761968|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762 11891842 MLH1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34680242|PMID:35223509|PMID:35263119|PMID:35467778|PMID:36073783|PMID:5713769|PMID:6083711|PMID:661956|PMID:7557107|PMID:7704024|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9845760|PMID:9927033|PMID:9927034 11891842 MLH1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11066084|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12110639|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12215842|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15494688|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15677628|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528606|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17666659|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18283312|PMID:18301448|PMID:18307539 11891842 MLH1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18325052|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18769833|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19133695|PMID:19142183|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24415873|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24612714|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24953332|PMID:24989436|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25123297|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25712765|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257 11891842 MLH1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26710000|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27013479|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:28975465|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30279230|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31780705|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31942411|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32761968|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32957588|PMID:32959997 11891842 MLH1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35223509|PMID:35263119|PMID:35467778|PMID:35670670|PMID:35884469|PMID:36054288|PMID:36073783|PMID:36988593|PMID:6083711|PMID:661956|PMID:7557107|PMID:7704024|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9845760|PMID:9927033|PMID:9927034 11891842 MLH1 mutL homolog 1 gene DOID:9008086 Developmental Disabilities ISO RGD:733729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:11948175|PMID:15475387|PMID:16736289|PMID:17135187|PMID:17210669|PMID:17510385|PMID:21404117|PMID:22843852|PMID:23741719|PMID:25741868|PMID:26467025|PMID:26552419|PMID:28492532|PMID:28514183|PMID:28767289|PMID:30504929|PMID:31332305|PMID:33471991|PMID:9311737 11891842 MLH1 mutL homolog 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18497967|PMID:18718023|PMID:18949393 11891842 MLH1 mutL homolog 1 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 11891842 MLH1 mutL homolog 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:10627141|PMID:11555625|PMID:15300854|PMID:17510385|PMID:17576681|PMID:21404117|PMID:21520333|PMID:23741719|PMID:25741868|PMID:27064304|PMID:28135145|PMID:28152038|PMID:28449805|PMID:28492532|PMID:28514183|PMID:29922827|PMID:31697235|PMID:9536098 11891842 MLH1 mutL homolog 1 gene DOID:9256 colorectal cancer ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:11726306|PMID:12919137|PMID:15849733|PMID:17895478|PMID:18931482|PMID:20587412|PMID:22878509|PMID:24033266|PMID:25741868|PMID:25980754|PMID:26888055|PMID:28492532|PMID:29472279|PMID:29684080|PMID:31843900 11891869 SLC3A1 solute carrier family 3 member 1 gene DOID:0060858 hypotonia-cystinuria syndrome ISO RGD:1345624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 11891869 SLC3A1 solute carrier family 3 member 1 gene DOID:0080587 congenital myasthenic syndrome 22 ISO RGD:1345624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 22 PMID:10737983|PMID:17576681|PMID:19782624|PMID:22796000|PMID:24610330|PMID:25741868|PMID:28492532|PMID:32707643|PMID:9536098 11891869 SLC3A1 solute carrier family 3 member 1 gene DOID:1059 intellectual disability ISO RGD:1345624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11891869 SLC3A1 solute carrier family 3 member 1 gene DOID:12679 nephrocalcinosis ISO RGD:1345624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:25741868|PMID:28893421 11891869 SLC3A1 solute carrier family 3 member 1 gene DOID:3883 Lynch syndrome ISO RGD:1345624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11891869 SLC3A1 solute carrier family 3 member 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1345624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 11891869 SLC3A1 solute carrier family 3 member 1 gene DOID:630 genetic disease ISO RGD:1345624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11891869 SLC3A1 solute carrier family 3 member 1 gene DOID:9266 cystinuria ISO RGD:1345624 D RGD:7240710 20180130 OMIM 11891869 SLC3A1 solute carrier family 3 member 1 gene DOID:9266 cystinuria ISO RGD:1345624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria PMID:10464673|PMID:10620184|PMID:10737983|PMID:11260385|PMID:11524703|PMID:11748844|PMID:12036192|PMID:12234283|PMID:12820697|PMID:14531788|PMID:14561219|PMID:14991253|PMID:15635077|PMID:15691362|PMID:16138908|PMID:16199547|PMID:16225397|PMID:16374432|PMID:17010017|PMID:17576681|PMID:17880288|PMID:18234729|PMID:18332091|PMID:18414213|PMID:18704508|PMID:18947684|PMID:19782624|PMID:20517292|PMID:21255007|PMID:21488254|PMID:21677404|PMID:22480232|PMID:22493502|PMID:22796000|PMID:23007880|PMID:23532419|PMID:24033266|PMID:24215330|PMID:24610330|PMID:25109415|PMID:25296721|PMID:25640679|PMID:25741868|PMID:25964309|PMID:26123750|PMID:26537754|PMID:28166740|PMID:28492532|PMID:28646536|PMID:28717662|PMID:28893421|PMID:30146843|PMID:30773290|PMID:32133030|PMID:33349102|PMID:33532864|PMID:7539209|PMID:7573036|PMID:8054986|PMID:8731106|PMID:8792820|PMID:9083097|PMID:9186880|PMID:9536098|PMID:9648062|PMID:9719865|PMID:9768685 11891869 SLC3A1 solute carrier family 3 member 1 gene DOID:9266 cystinuria susceptibility ISO RGD:1345624 D RGD:9068941 20200609 RGD DNA:missense mutations PMID:8054986|REF_RGD_ID:1600015 11891886 DNAJA1 DnaJ heat shock protein family (Hsp40) member A1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:734413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11891886 DNAJA1 DnaJ heat shock protein family (Hsp40) member A1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:734413 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11891886 DNAJA1 DnaJ heat shock protein family (Hsp40) member A1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:734413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11891886 DNAJA1 DnaJ heat shock protein family (Hsp40) member A1 gene DOID:403 mouth disease ISO RGD:734413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 11891886 DNAJA1 DnaJ heat shock protein family (Hsp40) member A1 gene DOID:630 genetic disease ISO RGD:734413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891886 DNAJA1 DnaJ heat shock protein family (Hsp40) member A1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:734413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11891886 DNAJA1 DnaJ heat shock protein family (Hsp40) member A1 gene DOID:9870 galactosemia ISO RGD:734413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11891915 METTL8 methyltransferase 8, methylcytidine gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1605633 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11891915 METTL8 methyltransferase 8, methylcytidine gene DOID:0112264 Woodhouse-Sakati syndrome ISO RGD:1605633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Woodhouse-Sakati syndrome PMID:17576681|PMID:17710875|PMID:19026396|PMID:20507343|PMID:25741868|PMID:26612766|PMID:28492532|PMID:9536098 11891915 METTL8 methyltransferase 8, methylcytidine gene DOID:630 genetic disease ISO RGD:1605633 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11891940 LOC100974914 olfactory receptor 51S1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1347151 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11891940 LOC100974914 olfactory receptor 51S1 gene DOID:630 genetic disease ISO RGD:1347151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891945 TMEM233 transmembrane protein 233 gene DOID:630 genetic disease ISO RGD:2923596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891957 ALPK2 alpha kinase 2 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1343226 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 11891957 ALPK2 alpha kinase 2 gene DOID:0111988 immunodeficiency 12 ISO RGD:1343226 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 11891957 ALPK2 alpha kinase 2 gene DOID:630 genetic disease ISO RGD:1343226 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11891974 LOC100977660 coiled-coil domain-containing protein 74A gene DOID:630 genetic disease ISO RGD:1604765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11891981 GJC2 gap junction protein gamma 2 gene DOID:0050952 spastic ataxia ISO RGD:1346209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:22833003|PMID:25059390|PMID:25741868|PMID:28492532|PMID:33190326|PMID:34445196 11891981 GJC2 gap junction protein gamma 2 gene DOID:0060787 hypomyelinating leukodystrophy 2 ISO RGD:1346209 D RGD:7240710 20180130 OMIM 11891981 GJC2 gap junction protein gamma 2 gene DOID:0060787 hypomyelinating leukodystrophy 2 ISO RGD:1346209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 PMID:15192806|PMID:16969684|PMID:17031678|PMID:17344063|PMID:18094336|PMID:20695017|PMID:21246605|PMID:21959080|PMID:22351697|PMID:22669416|PMID:22833003|PMID:23142375|PMID:24374284|PMID:25059390|PMID:25326635|PMID:25741868|PMID:26354221|PMID:27057822|PMID:27780564|PMID:28492532|PMID:29276893|PMID:29389947|PMID:29906362|PMID:32488064|PMID:32581362|PMID:33190326|PMID:34445196|PMID:8733901 11891981 GJC2 gap junction protein gamma 2 gene DOID:0070208 hereditary lymphedema IC ISO RGD:1346209 D RGD:7240710 20180130 OMIM 11891981 GJC2 gap junction protein gamma 2 gene DOID:0070208 hereditary lymphedema IC ISO RGD:1346209 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Lymphedema, hereditary, IC PMID:20537300|PMID:21266381|PMID:25741868|PMID:28492532 11891981 GJC2 gap junction protein gamma 2 gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:1346209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:28492532 11891981 GJC2 gap junction protein gamma 2 gene DOID:0110796 hereditary spastic paraplegia 44 ISO RGD:1346209 D RGD:7240710 20180130 OMIM 11891981 GJC2 gap junction protein gamma 2 gene DOID:0110796 hereditary spastic paraplegia 44 ISO RGD:1346209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 44 PMID:19056803|PMID:25741868|PMID:27057822|PMID:28492532 11891981 GJC2 gap junction protein gamma 2 gene DOID:1059 intellectual disability ISO RGD:1346209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:32581362 11891981 GJC2 gap junction protein gamma 2 gene DOID:14330 Parkinson's disease treatment ISO RGD:1562712 D RGD:9068941 20200609 RGD PMID:21561882|REF_RGD_ID:13208520 11891981 GJC2 gap junction protein gamma 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1346209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11891981 GJC2 gap junction protein gamma 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1346209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:22351697|PMID:22833003|PMID:25741868|PMID:26467025|PMID:27860360|PMID:28492532|PMID:29906362 11891981 GJC2 gap junction protein gamma 2 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1346209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:15192806|PMID:23143715|PMID:25741868|PMID:28492532|PMID:31319225 11891981 GJC2 gap junction protein gamma 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1623025 D RGD:9068941 20200609 RGD protein:decreased expression:lumbar spinal cord ventral horn, oligodendrocyte (mouse) PMID:24597481|REF_RGD_ID:13208591 11891981 GJC2 gap junction protein gamma 2 gene DOID:4977 lymphedema ISO RGD:1346209 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple (human) PMID:20537300|REF_RGD_ID:13208590 11891981 GJC2 gap junction protein gamma 2 gene DOID:4977 lymphedema ISO RGD:1346209 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.S48L, p.M210R (human) PMID:21266381|REF_RGD_ID:13208589 11891981 GJC2 gap junction protein gamma 2 gene DOID:543 dystonia ISO RGD:1346209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868|PMID:32581362 11891981 GJC2 gap junction protein gamma 2 gene DOID:607 paraplegia ISO RGD:1346209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:15192806|PMID:17576681|PMID:18094336|PMID:20513814|PMID:20695017|PMID:21246605|PMID:21959080|PMID:22351697|PMID:22833003|PMID:23142375|PMID:23143715|PMID:24374284|PMID:25059390|PMID:25741868|PMID:26467025|PMID:27057822|PMID:27780564|PMID:27860360|PMID:28492532|PMID:29276893|PMID:29451896|PMID:29906362|PMID:31028937|PMID:31270756|PMID:31319225|PMID:31912665|PMID:33190326|PMID:34445196|PMID:8733901|PMID:9536098 11891981 GJC2 gap junction protein gamma 2 gene DOID:630 genetic disease ISO RGD:1346209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22351697|PMID:22833003|PMID:25741868|PMID:27860360|PMID:28492532|PMID:29906362 11891981 GJC2 gap junction protein gamma 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1562712 D RGD:9068941 20200609 RGD PMID:26415641|REF_RGD_ID:13208513 11891981 GJC2 gap junction protein gamma 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1623025 D RGD:9068941 20200609 RGD protein:decreased expression:white matter of spinal cord, gap junction (mouse) PMID:22461072|REF_RGD_ID:13208593 11891981 GJC2 gap junction protein gamma 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1346209 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:18094336|PMID:25741868 11891981 GJC2 gap junction protein gamma 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11891987 PRKCD protein kinase C delta gene DOID:0080000 muscular disease ISO RGD:67383 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:skeletal muscle PMID:9458880|REF_RGD_ID:1642535 11891987 PRKCD protein kinase C delta gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29341352 11891987 PRKCD protein kinase C delta gene DOID:0080855 Parkinsonism ISO RGD:69026 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15681813 11891987 PRKCD protein kinase C delta gene DOID:0110119 autoimmune lymphoproliferative syndrome type 3 ISO RGD:69026 D RGD:7240710 20180130 OMIM 11891987 PRKCD protein kinase C delta gene DOID:0110119 autoimmune lymphoproliferative syndrome type 3 ISO RGD:69026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III PMID:11976687|PMID:16199547|PMID:17576681|PMID:23319571|PMID:23430113|PMID:24033266|PMID:25741868|PMID:26546672|PMID:28492532|PMID:30257684|PMID:34264265|PMID:9536098 11891987 PRKCD protein kinase C delta gene DOID:10762 portal hypertension ISO RGD:69026 D RGD:9068941 20200609 RGD mRNA:decreased expression:spleen, macrophage PMID:17659678|REF_RGD_ID:1642521 11891987 PRKCD protein kinase C delta gene DOID:10763 hypertension ISO RGD:67383 D RGD:9068941 20200609 RGD PMID:15792354|REF_RGD_ID:1581271 11891987 PRKCD protein kinase C delta gene DOID:10763 hypertension ISO RGD:67383 D RGD:9068941 20200609 RGD protein:increased expression:heart, fibroblast PMID:10756122|REF_RGD_ID:1642534 11891987 PRKCD protein kinase C delta gene DOID:10763 hypertension ISO RGD:69026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23973649 11891987 PRKCD protein kinase C delta gene DOID:10763 hypertension ISO RGD:69026 D RGD:9068941 20200609 RGD protein:increased expression:heart, fibroblast PMID:10756122|REF_RGD_ID:1642534 11891987 PRKCD protein kinase C delta gene DOID:10763 hypertension ISO RGD:69027 D RGD:9068941 20200609 RGD protein:increased expression:heart, fibroblast PMID:10756122|REF_RGD_ID:1642534 11891987 PRKCD protein kinase C delta gene DOID:2018 hyperinsulinism ISO RGD:67383 D RGD:9068941 20200609 RGD PMID:8826977|REF_RGD_ID:1625605 11891987 PRKCD protein kinase C delta gene DOID:2316 brain ischemia ISO RGD:67383 D RGD:9068941 20200609 RGD PMID:17350602|REF_RGD_ID:1642524 11891987 PRKCD protein kinase C delta gene DOID:3602 toxic encephalopathy ISO RGD:69026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22512859 11891987 PRKCD protein kinase C delta gene DOID:397 restrictive cardiomyopathy ISO RGD:67383 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:heart ventricle PMID:9458880|REF_RGD_ID:1642535 11891987 PRKCD protein kinase C delta gene DOID:630 genetic disease ISO RGD:69026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11891987 PRKCD protein kinase C delta gene DOID:9000972 Fever ISO RGD:69026 D RGD:9068941 20200910 CTD CTD Direct Evidence: therapeutic PMID:31422080|PMID:32437895 11891987 PRKCD protein kinase C delta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11891987 PRKCD protein kinase C delta gene DOID:9002245 Intestinal Neoplasms ISO RGD:69026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11983831 11891987 PRKCD protein kinase C delta gene DOID:9002395 Hypothermia ISO RGD:69026 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30366073 11891987 PRKCD protein kinase C delta gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:67383 D RGD:9068941 20200609 RGD PMID:15532718|REF_RGD_ID:1581272 11891987 PRKCD protein kinase C delta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:67383 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:11576956|REF_RGD_ID:1642532 11891987 PRKCD protein kinase C delta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12198386 11891987 PRKCD protein kinase C delta gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:67383 D RGD:9068941 20200609 RGD PMID:15532718|REF_RGD_ID:1581272 11891987 PRKCD protein kinase C delta gene DOID:9007096 Stroke ISO RGD:67383 D RGD:9068941 20200609 RGD PMID:17350602|REF_RGD_ID:1642524 11891987 PRKCD protein kinase C delta gene DOID:9007102 Myocardial Ischemia ISO RGD:67383 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, altered phosphorylation:heart PMID:16924416|REF_RGD_ID:1642550 11891987 PRKCD protein kinase C delta gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:69026 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30393195 11891987 PRKCD protein kinase C delta gene DOID:9007692 Insulin Resistance ISO RGD:67383 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:12217885|REF_RGD_ID:729667 11891987 PRKCD protein kinase C delta gene DOID:9007692 Insulin Resistance ISO RGD:69027 D RGD:9068941 20200609 RGD associated with Obesity;protein:increased activity:adipocyte PMID:15507533|REF_RGD_ID:1642527 11891987 PRKCD protein kinase C delta gene DOID:9007730 Burns ISO RGD:67383 D RGD:9068941 20200609 RGD protein:altered localization:cardiac muscle cell PMID:16990486|REF_RGD_ID:1642547 11891987 PRKCD protein kinase C delta gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:67383 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:17322024|REF_RGD_ID:1642542 11891987 PRKCD protein kinase C delta gene DOID:9452 fatty liver disease ISO RGD:69026 D RGD:9068941 20200609 RGD PMID:17596878|REF_RGD_ID:1642523 11891987 PRKCD protein kinase C delta gene DOID:9970 obesity ISO RGD:67383 D RGD:9068941 20200609 RGD protein:decreased expression:heart ventricle PMID:11478406|REF_RGD_ID:1642533 11891987 Prkcd protein kinase C, delta gene DOID:9003936 Cardiomegaly ISO RGD:67383 D RGD:9068941 20200609 RGD associated with Hypertension PMID:15792354|REF_RGD_ID:1581271 11892010 HOXA3 homeobox A3 gene DOID:11198 DiGeorge syndrome ISO RGD:1557652 D RGD:9068941 20220825 MouseDO OMIM:188400 11892010 HOXA3 homeobox A3 gene DOID:1682 congenital heart disease ISO RGD:1344896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1673020 11892010 HOXA3 homeobox A3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11892010 HOXA3 homeobox A3 gene DOID:630 genetic disease ISO RGD:1344896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11892010 HOXA3 homeobox A3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11892010 HOXA3 homeobox A3 gene DOID:9002213 Lymphatic Abnormalities ISO RGD:1344896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1673020 11892010 HOXA3 homeobox A3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1344896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1673020 11892029 GPR87 G protein-coupled receptor 87 gene DOID:0050579 glycogen storage disease XV ISO RGD:1317287 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 11892029 GPR87 G protein-coupled receptor 87 gene DOID:630 genetic disease ISO RGD:1317287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11892054 TGM4 transglutaminase 4 gene DOID:4990 essential tremor ISO RGD:1343082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 11892054 TGM4 transglutaminase 4 gene DOID:630 genetic disease ISO RGD:1343082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11892073 NOTUM notum, palmitoleoyl-protein carboxylesterase gene DOID:0060041 autism spectrum disorder ISO RGD:1606450 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11892073 NOTUM notum, palmitoleoyl-protein carboxylesterase gene DOID:630 genetic disease ISO RGD:1606450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11892082 WDR45B WD repeat domain 45B gene DOID:1059 intellectual disability ISO RGD:1350558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11892082 WDR45B WD repeat domain 45B gene DOID:630 genetic disease ISO RGD:1350558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11892082 WDR45B WD repeat domain 45B gene DOID:9009173 Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures ISO RGD:1350558 D RGD:7240710 20190315 OMIM 11892082 WDR45B WD repeat domain 45B gene DOID:9009173 Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures ISO RGD:1350558 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures PMID:25741868|PMID:27431290|PMID:28492532 11892095 LOC100982497 histone H2A type 1-H gene DOID:630 genetic disease ISO RGD:1349795 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11892100 MCAM melanoma cell adhesion molecule gene DOID:0060017 CD3epsilon deficiency ISO RGD:732868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 11892100 MCAM melanoma cell adhesion molecule gene DOID:0060837 isolated microphthalmia 5 ISO RGD:732868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11892100 MCAM melanoma cell adhesion molecule gene DOID:0080690 RASopathy ISO RGD:732868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11892100 MCAM melanoma cell adhesion molecule gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:732868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 11892100 MCAM melanoma cell adhesion molecule gene DOID:0111971 immunodeficiency 18 ISO RGD:732868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 11892100 MCAM melanoma cell adhesion molecule gene DOID:0111972 immunodeficiency 19 ISO RGD:732868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 11892100 MCAM melanoma cell adhesion molecule gene DOID:0111973 immunodeficiency 17 ISO RGD:732868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 11892100 MCAM melanoma cell adhesion molecule gene DOID:1790 malignant mesothelioma ISO RGD:732868 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:22784439|PMID:23621518 11892100 MCAM melanoma cell adhesion molecule gene DOID:1790 malignant mesothelioma disease_progression ISO RGD:620463 D RGD:9068941 20200609 RGD PMID:23621518|REF_RGD_ID:7364782 11892100 MCAM melanoma cell adhesion molecule gene DOID:1875 impotence ISO RGD:620463 D RGD:9068941 20200609 RGD protein:decreased expression:penis erectile tissue PMID:24023647|REF_RGD_ID:7364777 11892100 MCAM melanoma cell adhesion molecule gene DOID:2377 multiple sclerosis ISO RGD:732868 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23595028 11892100 MCAM melanoma cell adhesion molecule gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732868 D RGD:9068941 20200609 RGD PMID:23649916|REF_RGD_ID:7364780 11892100 MCAM melanoma cell adhesion molecule gene DOID:438 autoimmune disease of the nervous system ISO RGD:732868 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23595028 11892100 MCAM melanoma cell adhesion molecule gene DOID:5419 schizophrenia ISO RGD:732868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11892100 MCAM melanoma cell adhesion molecule gene DOID:6039 uveal melanoma disease_progression ISO RGD:732868 D RGD:9068941 20200609 RGD PMID:19958117|REF_RGD_ID:7364775 11892100 MCAM melanoma cell adhesion molecule gene DOID:630 genetic disease ISO RGD:732868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11892100 MCAM melanoma cell adhesion molecule gene DOID:9001579 Neurogenic Inflammation ISO RGD:732868 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23595028 11892100 MCAM melanoma cell adhesion molecule gene DOID:9001834 Peritoneal Neoplasms ISO RGD:732868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22784439|PMID:23621518 11892100 MCAM melanoma cell adhesion molecule gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:620463 D RGD:9068941 20200609 RGD PMID:10076889|REF_RGD_ID:7364787 11892100 MCAM melanoma cell adhesion molecule gene DOID:9002884 Emphysema ISO RGD:620463 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:23649916|REF_RGD_ID:7364780 11892100 MCAM melanoma cell adhesion molecule gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:732868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11892100 MCAM melanoma cell adhesion molecule gene DOID:9007661 Dwarfism ISO RGD:732868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11892126 M1AP meiosis 1 associated protein gene DOID:0070168 spermatogenic failure 3 ISO RGD:1604532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:32673564 11892126 M1AP meiosis 1 associated protein gene DOID:0070176 spermatogenic failure 4 ISO RGD:1604532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenesis maturation arrest PMID:32017041 11892126 M1AP meiosis 1 associated protein gene DOID:0112176 spermatogenic failure 48 ISO RGD:1604532 D RGD:7240710 20201209 OMIM 11892126 M1AP meiosis 1 associated protein gene DOID:0112176 spermatogenic failure 48 ISO RGD:1604532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 48 PMID:25741868|PMID:32017041|PMID:32673564 11892126 M1AP meiosis 1 associated protein gene DOID:630 genetic disease ISO RGD:1604532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11892126 M1AP meiosis 1 associated protein gene DOID:9003436 CRYPTOZOOSPERMIA ISO RGD:1604532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryptozoospermia PMID:25741868|PMID:32673564 11892148 HYI hydroxypyruvate isomerase (putative) gene DOID:0080413 developmental and epileptic encephalopathy 18 ISO RGD:1601737 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 18 PMID:25741868 11892148 HYI hydroxypyruvate isomerase (putative) gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1601737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11892148 HYI hydroxypyruvate isomerase (putative) gene DOID:630 genetic disease ISO RGD:1601737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11892165 LOC100985556 uncharacterized LOC100985556 gene DOID:12849 autistic disorder ISO RGD:38606192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11892175 KIF14 kinesin family member 14 gene DOID:0050777 Joubert syndrome ISO RGD:1321678 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders 11892175 KIF14 kinesin family member 14 gene DOID:0050777 Joubert syndrome ISO RGD:1321678 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:23308235|PMID:28492532|PMID:29343805|PMID:30388224 11892175 KIF14 kinesin family member 14 gene DOID:0080600 COVID-19 ISO RGD:1321678 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11892175 KIF14 kinesin family member 14 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1321678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11892175 KIF14 kinesin family member 14 gene DOID:1540 parathyroid carcinoma ISO RGD:1321678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11892175 KIF14 kinesin family member 14 gene DOID:630 genetic disease ISO RGD:1321678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11892175 KIF14 kinesin family member 14 gene DOID:684 hepatocellular carcinoma ISO RGD:1321678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11892175 KIF14 kinesin family member 14 gene DOID:9002190 Meckel Syndrome 12 ISO RGD:1321678 D RGD:7240710 20180130 OMIM 11892175 KIF14 kinesin family member 14 gene DOID:9002190 Meckel Syndrome 12 ISO RGD:1321678 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Meckel syndrome 12 PMID:24128419|PMID:25741868|PMID:28492532 11892175 KIF14 kinesin family member 14 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1321678 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11892175 KIF14 kinesin family member 14 gene DOID:9009149 Primary Autosomal Recessive Microcephaly 20 ISO RGD:1321678 D RGD:7240710 20190315 OMIM 11892175 KIF14 kinesin family member 14 gene DOID:9009149 Primary Autosomal Recessive Microcephaly 20 ISO RGD:1321678 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly 20, primary, autosomal recessive PMID:23308235|PMID:25741868|PMID:28492532|PMID:28892560|PMID:29343805|PMID:30388224 11892175 KIF14 kinesin family member 14 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11892230 TMUB2 transmembrane and ubiquitin like domain containing 2 gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1604292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 11892230 TMUB2 transmembrane and ubiquitin like domain containing 2 gene DOID:630 genetic disease ISO RGD:1604292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11892289 WDR89 WD repeat domain 89 gene DOID:630 genetic disease ISO RGD:1316567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11892307 PRSS27 serine protease 27 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1353298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11892307 PRSS27 serine protease 27 gene DOID:1826 epilepsy ISO RGD:1353298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11892307 PRSS27 serine protease 27 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1353298 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11892307 PRSS27 serine protease 27 gene DOID:630 genetic disease ISO RGD:1353298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11892317 MTA1 metastasis associated 1 gene DOID:14330 Parkinson's disease ISO RGD:731516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27044752 11892317 MTA1 metastasis associated 1 gene DOID:289 endometriosis ISO RGD:731516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 11892317 MTA1 metastasis associated 1 gene DOID:630 genetic disease ISO RGD:731516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11892317 MTA1 metastasis associated 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:731516 D RGD:9068941 20200609 RGD associated with Carcinoma, Non-Small-Cell Lung;mRNA:increased expression:lung PMID:11804687|REF_RGD_ID:9588220 11892345 GABPB1 GA binding protein transcription factor subunit beta 1 gene DOID:2717 Bloom syndrome ISO RGD:1321019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11892345 GABPB1 GA binding protein transcription factor subunit beta 1 gene DOID:630 genetic disease ISO RGD:1321019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11892345 GABPB1 GA binding protein transcription factor subunit beta 1 gene DOID:9256 colorectal cancer ISO RGD:1321019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11892369 CLEC10A C-type lectin domain containing 10A gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1603407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11892369 CLEC10A C-type lectin domain containing 10A gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1603407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 11892369 CLEC10A C-type lectin domain containing 10A gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1603407 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11892369 CLEC10A C-type lectin domain containing 10A gene DOID:12177 common variable immunodeficiency ISO RGD:1603407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11892369 CLEC10A C-type lectin domain containing 10A gene DOID:2729 dyskeratosis congenita ISO RGD:1603407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11892369 CLEC10A C-type lectin domain containing 10A gene DOID:630 genetic disease ISO RGD:1603407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11892369 CLEC10A C-type lectin domain containing 10A gene DOID:9007102 Myocardial Ischemia ISO RGD:1603407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11892383 PPM1G protein phosphatase, Mg2+/Mn2+ dependent 1G gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:732734 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11892383 PPM1G protein phosphatase, Mg2+/Mn2+ dependent 1G gene DOID:5419 schizophrenia ISO RGD:732735 D RGD:9068941 20220825 MouseDO OMIM:181500 11892383 PPM1G protein phosphatase, Mg2+/Mn2+ dependent 1G gene DOID:630 genetic disease ISO RGD:732734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11892397 PTRH1 peptidyl-tRNA hydrolase 1 homolog gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1320908 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11892397 PTRH1 peptidyl-tRNA hydrolase 1 homolog gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1320908 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11892397 PTRH1 peptidyl-tRNA hydrolase 1 homolog gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1320908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11892397 PTRH1 peptidyl-tRNA hydrolase 1 homolog gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1320908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 11892397 PTRH1 peptidyl-tRNA hydrolase 1 homolog gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1320908 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11892397 PTRH1 peptidyl-tRNA hydrolase 1 homolog gene DOID:630 genetic disease ISO RGD:1320908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11892397 PTRH1 peptidyl-tRNA hydrolase 1 homolog gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11892406 PALB2 partner and localizer of BRCA2 gene DOID:0050671 female breast cancer susceptibility ISO RGD:1605949 D RGD:9068941 20220609 RGD DNA:missense mutation:cds: (human) PMID:30303537|REF_RGD_ID:152995259 11892406 PALB2 partner and localizer of BRCA2 gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:1605949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:28492532 11892406 PALB2 partner and localizer of BRCA2 gene DOID:0080645 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 ISO RGD:1605949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 PMID:25741868|PMID:28492532 11892406 PALB2 partner and localizer of BRCA2 gene DOID:0111094 Fanconi anemia complementation group N ISO RGD:1605949 D RGD:7240710 20230517 OMIM 11892406 PALB2 partner and localizer of BRCA2 gene DOID:0111094 Fanconi anemia complementation group N ISO RGD:1605949 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group N PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17924555|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763819|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25583207|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26649820|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28664506|PMID:28709830|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29431189|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29945567|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30521987|PMID:30541756|PMID:30665703|PMID:30680046|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30982232|PMID:30995915|PMID:31054147|PMID:31089269|PMID:31090900|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31312277|PMID:31422574|PMID:31428572|PMID:31428676|PMID:31446535|PMID:31447099|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31636395|PMID:31642931|PMID:31742824|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871297|PMID:32019277|PMID:32048105|PMID:32081490|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33169439|PMID:33193564|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33674644|PMID:33811135|PMID:33917078|PMID:33964450|PMID:34113003|PMID:35089076|PMID:35263119|PMID:35806449|PMID:36988593 11892406 PALB2 partner and localizer of BRCA2 gene DOID:10534 stomach cancer ISO RGD:1605949 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:19264984|PMID:19763884|PMID:20412113|PMID:20852946|PMID:21165770|PMID:21285249|PMID:21618343|PMID:22692731|PMID:23561644|PMID:23935381|PMID:23935836|PMID:24033266|PMID:24136930|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24763289|PMID:24870022|PMID:25099575|PMID:25186627|PMID:25356972|PMID:25452441|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26720728|PMID:26845104|PMID:27553368|PMID:27624329|PMID:27783279|PMID:27798748|PMID:28152038|PMID:28194609|PMID:28413668|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28724667|PMID:28779002|PMID:29093764|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29506128|PMID:29566657|PMID:29752822|PMID:29915322|PMID:29945567|PMID:30067863|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30377213|PMID:30792206|PMID:30982232|PMID:31089269|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31619740|PMID:31786208|PMID:31841383|PMID:31844177|PMID:32339256|PMID:32427313|PMID:32566746|PMID:32832836|PMID:32854451|PMID:32885271|PMID:33169439|PMID:33471991|PMID:36988593 11892406 PALB2 partner and localizer of BRCA2 gene DOID:1324 lung cancer ISO RGD:1605949 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:25741868|PMID:26023681|PMID:28492532|PMID:29625052|PMID:29785153|PMID:31159747|PMID:31447099|PMID:31619740 11892406 PALB2 partner and localizer of BRCA2 gene DOID:13636 Fanconi anemia ISO RGD:1605949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:24136930|PMID:25099575|PMID:25741868|PMID:26467025|PMID:26564480|PMID:28492532 11892406 PALB2 partner and localizer of BRCA2 gene DOID:1520 colon carcinoma ISO RGD:1605949 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:18053174|PMID:21285249|PMID:21365267|PMID:21618343|PMID:22692731|PMID:23977390|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26689913|PMID:28135145|PMID:28492532|PMID:28779002|PMID:28825143|PMID:28944238|PMID:30287823|PMID:30303537|PMID:3040479|PMID:30638972|PMID:31586400|PMID:31636395|PMID:32546565|PMID:33195396|PMID:33471991 11892406 PALB2 partner and localizer of BRCA2 gene DOID:1520 colon carcinoma ISO RGD:1605949 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:18053174|PMID:21285249|PMID:21365267|PMID:21618343|PMID:22692731|PMID:23977390|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26689913|PMID:28135145|PMID:28492532|PMID:28779002|PMID:28825143|PMID:28944238|PMID:29522266|PMID:30287823|PMID:30303537|PMID:3040479|PMID:30638972|PMID:31586400|PMID:31636395|PMID:31911633|PMID:32546565|PMID:33195396|PMID:33471991 11892406 PALB2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:7240710 20230517 OMIM 11892406 PALB2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19423707|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28166811|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31159747|PMID:31214711|PMID:31300551|PMID:31467304|PMID:31481248|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:32019277|PMID:32068069|PMID:32295079|PMID:32339256|PMID:32566746|PMID:32832836|PMID:32854451|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806 11892406 PALB2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33811135|PMID:33980423|PMID:34371384 11892406 PALB2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33811135|PMID:33980423|PMID:34371384|PMID:35806449 11892406 PALB2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31575519|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33811135|PMID:33980423|PMID:34371384|PMID:35806449 11892406 PALB2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31575519|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31942411|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33811135|PMID:33917078|PMID:33980423|PMID:34113003|PMID:34371384|PMID:35806449 11892406 PALB2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30720863|PMID:30833416|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31570822|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31942411|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32997802|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34113003|PMID:34371384|PMID:35806449 11892406 PALB2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30720863|PMID:30833416|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31481248|PMID:31570822|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31942411|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32997802|PMID:33113089|PMID:33139182|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34113003|PMID:34371384|PMID:35806449|PMID:36988593|PMID:9536098 11892406 PALB2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer ISO RGD:1605949 D RGD:7240710 20230517 OMIM 11892406 PALB2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer ISO RGD:1605949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer 3 PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:22241545|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25452441|PMID:25479140|PMID:25575445|PMID:25741868|PMID:25959805|PMID:25980754|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27624329|PMID:27783279|PMID:27829436|PMID:28008555|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28580595|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28864920|PMID:28873162|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29522266|PMID:29752822|PMID:29753700|PMID:29909963|PMID:29945567|PMID:30093976|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30638972|PMID:30665703|PMID:30890586|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31586400|PMID:31636395|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32048105|PMID:32295079|PMID:32339256|PMID:32566746|PMID:33139182|PMID:33471991 11892406 PALB2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer ISO RGD:1605949 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:22241545|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25741868|PMID:25959805|PMID:25980754|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27595995|PMID:27624329|PMID:28008555|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28580595|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28864920|PMID:28873162|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29522266|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29909963|PMID:29945567|PMID:29961768|PMID:30093976|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30638972|PMID:30665703|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31586400|PMID:31636395|PMID:31757951|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32048105|PMID:32081490|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33139182|PMID:33471991 11892406 PALB2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer ISO RGD:1605949 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:22241545|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25741868|PMID:25959805|PMID:25980754|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27595995|PMID:27624329|PMID:28008555|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28580595|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28864920|PMID:28873162|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29522266|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29909963|PMID:29945567|PMID:29961768|PMID:30093976|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30638972|PMID:30665703|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31575519|PMID:31586400|PMID:31636395|PMID:31757951|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32048105|PMID:32081490|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33139182|PMID:33471991 11892406 PALB2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer ISO RGD:1605949 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:22241545|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25741868|PMID:25959805|PMID:25980754|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27595995|PMID:27624329|PMID:27878467|PMID:28008555|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:29052111|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29478780|PMID:29522266|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29945567|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30541756|PMID:30638972|PMID:30665703|PMID:30833416|PMID:30890586|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31312277|PMID:31447099|PMID:31570822|PMID:31586400|PMID:31636395|PMID:31757951|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32048105|PMID:32081490|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33139182|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33558524|PMID:33674644|PMID:33917078|PMID:34113003|PMID:35263119|PMID:36988593 11892406 PALB2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1605949 D RGD:9068941 20230518 RGD DNA:nonsense mutations:exon:172_175del, 3116del, 3256C>T (human) PMID:19264984|REF_RGD_ID:2325776 11892406 PALB2 partner and localizer of BRCA2 gene DOID:1798 pancreatic endocrine carcinoma ISO RGD:1605949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroendocrine tumor of pancreas PMID:25741868 11892406 PALB2 partner and localizer of BRCA2 gene DOID:2394 ovarian cancer ISO RGD:1605949 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:17200668|PMID:17287723|PMID:18288683|PMID:18302019|PMID:18446436|PMID:19333784|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21165770|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23448497|PMID:23824750|PMID:23935836|PMID:24033266|PMID:24206657|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25356972|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25741868|PMID:26283626|PMID:26467025|PMID:26689913|PMID:27616075|PMID:27930734|PMID:28492532|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28873162|PMID:29052111|PMID:29387807|PMID:29522266|PMID:30287823|PMID:31159747|PMID:31422574|PMID:31636395|PMID:31757951|PMID:32658311|PMID:32659497|PMID:33139182|PMID:33195396|PMID:33309985|PMID:33471991 11892406 PALB2 partner and localizer of BRCA2 gene DOID:2513 basal cell carcinoma ISO RGD:1605949 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:25741868|PMID:27878467|PMID:28135048|PMID:28423363|PMID:28492532|PMID:28779002|PMID:32339256|PMID:32566746 11892406 PALB2 partner and localizer of BRCA2 gene DOID:2871 endometrial carcinoma ISO RGD:1605949 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:17200668|PMID:20091115|PMID:21285249|PMID:21365267|PMID:22241545|PMID:22692731|PMID:25186627|PMID:25356972|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26689913|PMID:26692951|PMID:26898890|PMID:28440294|PMID:28492532|PMID:28580595|PMID:28767289|PMID:28779002|PMID:30287823|PMID:31636395|PMID:32068069|PMID:32566746|PMID:32659497|PMID:33113089|PMID:33471991|PMID:33588785 11892406 PALB2 partner and localizer of BRCA2 gene DOID:3302 chordoma ISO RGD:1605949 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chordoma PMID:25741868|PMID:26283626|PMID:26315354|PMID:27106063|PMID:27443514|PMID:28492532|PMID:28779002|PMID:29522266|PMID:30303537|PMID:30680046|PMID:31636395|PMID:32546565|PMID:33471991 11892406 PALB2 partner and localizer of BRCA2 gene DOID:3459 breast carcinoma ISO RGD:1605949 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:18987736|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:21165770|PMID:21285249|PMID:21365267|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:23448497|PMID:23555315|PMID:23824750|PMID:23935836|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26564480|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26878173|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28709830|PMID:29052111|PMID:29478780|PMID:29625052|PMID:30086788|PMID:30113427|PMID:30833416|PMID:31159747|PMID:31312277|PMID:31570822|PMID:31586400|PMID:31636395|PMID:31757951|PMID:32295079|PMID:32546565|PMID:32554798|PMID:32658311|PMID:32853339|PMID:32885271|PMID:32997802|PMID:33674644|PMID:33964450 11892406 PALB2 partner and localizer of BRCA2 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1605949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary thyroid carcinoma PMID:25741868|PMID:28492532 11892406 PALB2 partner and localizer of BRCA2 gene DOID:4001 ovarian carcinoma ISO RGD:1605949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:25741868 11892406 PALB2 partner and localizer of BRCA2 gene DOID:4606 bile duct cancer ISO RGD:1605949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bile duct cancer PMID:25741868|PMID:26467025|PMID:28492532|PMID:30287823 11892406 PALB2 partner and localizer of BRCA2 gene DOID:4851 pilocytic astrocytoma ISO RGD:1605949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pilocytic astrocytoma PMID:25741868|PMID:26283626|PMID:28492532|PMID:28664506|PMID:32546565 11892406 PALB2 partner and localizer of BRCA2 gene DOID:4905 pancreatic carcinoma ISO RGD:1605949 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:17200668|PMID:17200671|PMID:17200672|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:21165770|PMID:21285249|PMID:21365267|PMID:24061862|PMID:24136930|PMID:24415441|PMID:25099575|PMID:25186627|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25959805|PMID:26083025|PMID:26270727|PMID:26467025|PMID:26689913|PMID:26720728|PMID:26845104|PMID:27038244|PMID:27099641|PMID:27106063|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28709830|PMID:29052111|PMID:29478780|PMID:29625052|PMID:30086788|PMID:30113427|PMID:30833416|PMID:31159747|PMID:31312277|PMID:31570822|PMID:32295079|PMID:32546565|PMID:32554798|PMID:32853339|PMID:32885271|PMID:32997802|PMID:33674644 11892406 PALB2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19423707|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28166811|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32832836|PMID:32853339|PMID:32854451|PMID:33134171|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:34113003|PMID:9536098 11892406 PALB2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32832836|PMID:32853339|PMID:32854451|PMID:33134171|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:34113003|PMID:9536098 11892406 PALB2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32980694|PMID:32997802|PMID:33134171|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:34113003|PMID:9536098 11892406 PALB2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32980694|PMID:32997802|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806|PMID:34113003|PMID:35806449|PMID:9536098 11892406 PALB2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32980694|PMID:32997802|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806|PMID:34113003|PMID:35264596|PMID:35806449|PMID:9536098 11892406 PALB2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32581362|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806|PMID:34113003|PMID:35264596|PMID:35806449|PMID:9536098 11892406 PALB2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30833416|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31447099|PMID:31467304|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33964450|PMID:34113003|PMID:35264596|PMID:35806449|PMID:9536098 11892406 PALB2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33674644|PMID:33917078|PMID:33964450|PMID:34113003|PMID:35264596|PMID:35806449|PMID:9536098 11892406 PALB2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18794107|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:28051113|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29982661|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31422574|PMID:31428676|PMID:31447099|PMID:31467304|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806 11892406 PALB2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33674644|PMID:33917078|PMID:33964450|PMID:34113003|PMID:35264596|PMID:35806449|PMID:36988593|PMID:9536098 11892406 PALB2 partner and localizer of BRCA2 gene DOID:5889 anaplastic ependymoma ISO RGD:1605949 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anaplastic ependymoma PMID:21285249|PMID:25741868|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26689913|PMID:27616075|PMID:28492532|PMID:28678401|PMID:31636395|PMID:33471991 11892406 PALB2 partner and localizer of BRCA2 gene DOID:630 genetic disease ISO RGD:1605949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11892406 PALB2 partner and localizer of BRCA2 gene DOID:6741 bilateral breast cancer ISO RGD:1605949 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: bilateral breast cancer PMID:20852946|PMID:22692731|PMID:24448499|PMID:24556926|PMID:25186627|PMID:25479140|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26564480|PMID:26898890|PMID:27878467|PMID:28492532|PMID:28779002|PMID:28944238|PMID:29522266|PMID:30306255|PMID:31206626|PMID:31451522|PMID:31512090|PMID:31757951|PMID:32658311|PMID:33195396|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33980423 11892406 PALB2 partner and localizer of BRCA2 gene DOID:768 retinoblastoma ISO RGD:1605949 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:23555315|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28873162|PMID:32832836|PMID:32868316 11892406 PALB2 partner and localizer of BRCA2 gene DOID:9002089 Tumor Predisposition Syndrome 1 ISO RGD:1605949 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:24763289|PMID:25099575|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27433846|PMID:28492532 11892406 PALB2 partner and localizer of BRCA2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11892406 PALB2 partner and localizer of BRCA2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1605949 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:25741868|PMID:28492532 11892406 PALB2 partner and localizer of BRCA2 gene DOID:9004268 Uterine Neoplasms ISO RGD:1605949 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neoplasm of uterus PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:25741868|PMID:27553368|PMID:28492532 11892406 PALB2 partner and localizer of BRCA2 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1605949 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Triple-negative breast cancer PMID:25575445|PMID:25741868|PMID:26328243|PMID:26467025|PMID:28492532|PMID:31757951|PMID:33471991|PMID:35263119 11892406 PALB2 partner and localizer of BRCA2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605949 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:17924555|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763819|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22194698|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22895193|PMID:22995991|PMID:23110154|PMID:23302520|PMID:23334666|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23934836|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25326637|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25636233|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26206375|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26328243|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26845104|PMID:26848151|PMID:26878173|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27067391|PMID:27093186|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27648926|PMID:27779110|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28024868|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28166811|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28413668|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28580595|PMID:28591191|PMID:28664506|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29101607|PMID:29190888|PMID:29212164|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29430632|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29706558|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30447919|PMID:30521987|PMID:30613976|PMID:30630526|PMID:30635165|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30680046|PMID:30720863|PMID:30792206|PMID:30883245|PMID:30890586|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31214711 11892406 PALB2 partner and localizer of BRCA2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605949 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31263054|PMID:31300551|PMID:31382929|PMID:31422574|PMID:31428572|PMID:31447099|PMID:31467304|PMID:31470354|PMID:31481248|PMID:31512090|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31921681|PMID:31942411|PMID:32019277|PMID:32039725|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32098121|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32521533|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:33113089|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33298767|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33811135|PMID:33910496|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34113003|PMID:34196900|PMID:34284872|PMID:9536098 11892406 PALB2 partner and localizer of BRCA2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:17924555|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763819|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20600922|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22193777|PMID:22194698|PMID:22204421|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22895193|PMID:22980975|PMID:22995991|PMID:23021409|PMID:23110154|PMID:23302520|PMID:23334666|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23934836|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:241536|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25326637|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25583207|PMID:25619955|PMID:25636233|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26110843|PMID:26206375|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26328243|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26649820|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26845104|PMID:26848151|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27067391|PMID:27093186|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27648926|PMID:27701467|PMID:27779110|PMID:27783279|PMID:27798748|PMID:27803004|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28024868|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28413668|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28524162|PMID:28528518|PMID:28580595|PMID:28591191|PMID:28637618|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28821472|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29025590|PMID:29052111|PMID:29093764|PMID:29101607|PMID:29190888|PMID:29212164|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29430632|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29555771|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29706558|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29982661|PMID:30014022|PMID:30067863|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30257646|PMID:30287823 11892406 PALB2 partner and localizer of BRCA2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30289697|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30377213|PMID:3040479|PMID:30410870|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30521987|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30635165|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30680046|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30975761|PMID:30982232|PMID:30995915|PMID:31054147|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31312277|PMID:31360874|PMID:31382929|PMID:31413733|PMID:31422574|PMID:31428572|PMID:31428676|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31470354|PMID:31481248|PMID:31512090|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31871297|PMID:31911633|PMID:31921681|PMID:31942411|PMID:31980526|PMID:32019277|PMID:32039725|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32098121|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32408270|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32728620|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32884827|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33298767|PMID:33309985|PMID:33332384|PMID:33384714|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33674644|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34034685|PMID:34092963|PMID:34113003|PMID:34196900|PMID:34284872|PMID:34359559|PMID:34371384|PMID:34382369|PMID:34846068|PMID:34946951|PMID:35089076|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35806449|PMID:35853885|PMID:9536098 11892406 PALB2 partner and localizer of BRCA2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605949 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:17924555|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763819|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20600922|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22193777|PMID:22194698|PMID:22204421|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22895193|PMID:22980975|PMID:22995991|PMID:23021409|PMID:23110154|PMID:23302520|PMID:23334666|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23934836|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:241536|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25583207|PMID:25619955|PMID:25636233|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26110843|PMID:26206375|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26328243|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26649820|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26845104|PMID:26848151|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27067391|PMID:27093186|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27648926|PMID:27701467|PMID:27779110|PMID:27783279|PMID:27798748|PMID:27803004|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28024868|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28413668|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28524162|PMID:28528518|PMID:28580595|PMID:28591191|PMID:28637618|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28821472|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29025590|PMID:29052111|PMID:29093764|PMID:29101607|PMID:29190888|PMID:29212164|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29430632|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29555771|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29706558|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29982661|PMID:30014022|PMID:30067863|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30257646|PMID:30287823|PMID:30289697 11892406 PALB2 partner and localizer of BRCA2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605949 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30377213|PMID:3040479|PMID:30410870|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30521987|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30635165|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30680046|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30975761|PMID:30982232|PMID:30995915|PMID:31054147|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31312277|PMID:31360874|PMID:31382929|PMID:31413733|PMID:31422574|PMID:31428572|PMID:31428676|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31470354|PMID:31481248|PMID:31512090|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31871297|PMID:31911633|PMID:31921681|PMID:31942411|PMID:31980526|PMID:32019277|PMID:32039725|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32098121|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32408270|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32728620|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32884827|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33298767|PMID:33309985|PMID:33332384|PMID:33384714|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33674644|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34034685|PMID:34092963|PMID:34113003|PMID:34196900|PMID:34284872|PMID:34359559|PMID:34371384|PMID:34382369|PMID:34846068|PMID:34917121|PMID:34946951|PMID:35089076|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35806449|PMID:35853885|PMID:36988593|PMID:9536098 11892406 PALB2 partner and localizer of BRCA2 gene DOID:9008939 Breast Neoplasms ISO RGD:1605949 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:17200668|PMID:17200671|PMID:17200672|PMID:24033266|PMID:24136930|PMID:24448499|PMID:24556926|PMID:25099575|PMID:25741868|PMID:26315354|PMID:26467025|PMID:26845104|PMID:27624329|PMID:28492532|PMID:28724667|PMID:29566657|PMID:29752822|PMID:29945567|PMID:30322717|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31844177|PMID:32339256|PMID:32566746 11892406 PALB2 partner and localizer of BRCA2 gene DOID:9008939 Breast Neoplasms ISO RGD:1605949 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:17200668|PMID:17200671|PMID:17200672|PMID:24033266|PMID:24136930|PMID:24448499|PMID:24556926|PMID:25099575|PMID:25741868|PMID:26315354|PMID:26467025|PMID:26845104|PMID:27624329|PMID:28492532|PMID:28724667|PMID:29566657|PMID:29752822|PMID:29922827|PMID:29945567|PMID:30322717|PMID:30982232|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31844177|PMID:32068069|PMID:32339256|PMID:32566746|PMID:33193564 11892406 PALB2 partner and localizer of BRCA2 gene DOID:9008939 Breast Neoplasms ISO RGD:1605949 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:17200668|PMID:17200671|PMID:17200672|PMID:24033266|PMID:24136930|PMID:24448499|PMID:24556926|PMID:25099575|PMID:25741868|PMID:26315354|PMID:26467025|PMID:26845104|PMID:27624329|PMID:28492532|PMID:28724667|PMID:29566657|PMID:29752822|PMID:29922827|PMID:29945567|PMID:30322717|PMID:30720863|PMID:30982232|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31844177|PMID:32068069|PMID:32339256|PMID:32566746|PMID:33193564|PMID:36988593 11892406 PALB2 partner and localizer of BRCA2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1605949 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:17924555|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18794107|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19383810|PMID:19423707|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763152|PMID:19763819|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20307669|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22194698|PMID:22241545|PMID:22310028|PMID:22331464|PMID:22406018|PMID:22692731|PMID:22895193|PMID:22980975|PMID:22995991|PMID:23021409|PMID:23110154|PMID:23302520|PMID:23334666|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23934836|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:241536|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24982446|PMID:24998779|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25583207|PMID:25619955|PMID:25636233|PMID:25637381|PMID:25640679|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26110843|PMID:26206375|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26328243|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26649820|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26845104|PMID:26845227|PMID:26848151|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27067391|PMID:27093186|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27648926|PMID:27701467|PMID:27757719|PMID:27779110|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28024868|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28413668|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28524162|PMID:28528518|PMID:28580595|PMID:28591191|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28821472|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29052111|PMID:29093764|PMID:29101607|PMID:29190888|PMID:29212164|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29430632|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29555771|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29706558|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29982661|PMID:30014022|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30113427|PMID:30128536 11892406 PALB2 partner and localizer of BRCA2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1605949 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:30254378|PMID:30255452|PMID:30257646|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30377213|PMID:3040479|PMID:30410870|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30521987|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30635165|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30680046|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30975761|PMID:30982232|PMID:30995915|PMID:31054147|PMID:31060593|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31312277|PMID:31360874|PMID:31382929|PMID:31413733|PMID:31422574|PMID:31428572|PMID:31428676|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31470354|PMID:31481248|PMID:31512090|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31871297|PMID:31911633|PMID:31921681|PMID:31942411|PMID:31980526|PMID:32019277|PMID:32039725|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32098121|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32408270|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32728620|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32884827|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33224012|PMID:33298767|PMID:33309985|PMID:33332384|PMID:33384714|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33674644|PMID:33718150|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34034685|PMID:34092963|PMID:34113003|PMID:34196900|PMID:34284872|PMID:34359559|PMID:34371384|PMID:34382369|PMID:34846068|PMID:34917121|PMID:34946951|PMID:35089076|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35806449|PMID:35853885|PMID:36988593|PMID:7200671|PMID:9536098 11892406 PALB2 partner and localizer of BRCA2 gene DOID:9256 colorectal cancer ISO RGD:1605949 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:17420451|PMID:19264984|PMID:23341105|PMID:25099575|PMID:25741868|PMID:26467025|PMID:28492532 11892406 PALB2 partner and localizer of BRCA2 gene DOID:9256 colorectal cancer ISO RGD:1605949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:17200668|PMID:17200671|PMID:17200672|PMID:17420451|PMID:19264984|PMID:23341105|PMID:24136930|PMID:25099575|PMID:25741868|PMID:26467025|PMID:28492532 11892406 PALB2 partner and localizer of BRCA2 gene DOID:9460 uterine corpus cancer ISO RGD:1605949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:28492532 11892425 ENDOG endonuclease G gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11892425 ENDOG endonuclease G gene DOID:11832 visual epilepsy ISO RGD:1310763 D RGD:9068941 20200609 RGD PMID:20077427|REF_RGD_ID:9685392 11892425 ENDOG endonuclease G gene DOID:2316 brain ischemia ISO RGD:1310763 D RGD:9068941 20200609 RGD PMID:18568342|REF_RGD_ID:9685367 11892425 ENDOG endonuclease G gene DOID:6000 congestive heart failure ISO RGD:1310763 D RGD:9068941 20200609 RGD mRNa:decreased expression:heart: PMID:17292393|REF_RGD_ID:9685393 11892425 ENDOG endonuclease G gene DOID:630 genetic disease ISO RGD:1321856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11892425 ENDOG endonuclease G gene DOID:767 muscular atrophy ISO RGD:1310763 D RGD:9068941 20200609 RGD PMID:15650125|REF_RGD_ID:9685359 11892425 ENDOG endonuclease G gene DOID:9000039 Spinal Cord Injuries ISO RGD:1310763 D RGD:9068941 20200609 RGD PMID:16689664|REF_RGD_ID:8655990 11892425 ENDOG endonuclease G gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1310763 D RGD:9068941 20200609 RGD protein:decreased expression:mitochondrion: PMID:22509279|REF_RGD_ID:9685364 11892431 TECRL trans-2,3-enoyl-CoA reductase like gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1604717 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11892431 TECRL trans-2,3-enoyl-CoA reductase like gene DOID:0060677 catecholaminergic polymorphic ventricular tachycardia 3 ISO RGD:1604717 D RGD:7240710 20190315 OMIM 11892431 TECRL trans-2,3-enoyl-CoA reductase like gene DOID:0060677 catecholaminergic polymorphic ventricular tachycardia 3 ISO RGD:1604717 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 3 PMID:17666061|PMID:25741868|PMID:27861123|PMID:30790670|PMID:31737537|PMID:32173957|PMID:33367594 11892431 TECRL trans-2,3-enoyl-CoA reductase like gene DOID:2843 long QT syndrome ISO RGD:1604717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:27861123|PMID:30790670 11892431 TECRL trans-2,3-enoyl-CoA reductase like gene DOID:630 genetic disease ISO RGD:1604717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11892431 TECRL trans-2,3-enoyl-CoA reductase like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11892460 ASB3 ankyrin repeat and SOCS box containing 3 gene DOID:630 genetic disease ISO RGD:1318243 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11892524 DCAF8L1 DDB1 and CUL4 associated factor 8 like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11892524 DCAF8L1 DDB1 and CUL4 associated factor 8 like 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1346743 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:22510846|PMID:23453023|PMID:24504883|PMID:28492532 11892524 DCAF8L1 DDB1 and CUL4 associated factor 8 like 1 gene DOID:12849 autistic disorder ISO RGD:1346743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11892524 DCAF8L1 DDB1 and CUL4 associated factor 8 like 1 gene DOID:630 genetic disease ISO RGD:1346743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11892524 DCAF8L1 DDB1 and CUL4 associated factor 8 like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11892531 FNDC11 fibronectin type III domain containing 11 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1601971 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 11892531 FNDC11 fibronectin type III domain containing 11 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1601971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 11892531 FNDC11 fibronectin type III domain containing 11 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1601971 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 11892531 FNDC11 fibronectin type III domain containing 11 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1601971 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11892531 FNDC11 fibronectin type III domain containing 11 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1601971 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 11892531 FNDC11 fibronectin type III domain containing 11 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1601971 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 11892531 FNDC11 fibronectin type III domain containing 11 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1601971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 11892531 FNDC11 fibronectin type III domain containing 11 gene DOID:630 genetic disease ISO RGD:1601971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11892531 FNDC11 fibronectin type III domain containing 11 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:1601971 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 11892558 ACOT7 acyl-CoA thioesterase 7 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:733878 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11892558 ACOT7 acyl-CoA thioesterase 7 gene DOID:630 genetic disease ISO RGD:733878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11892558 ACOT7 acyl-CoA thioesterase 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11892578 C18H18orf21 chromosome 18 C18orf21 homolog gene DOID:1059 intellectual disability ISO RGD:1347622 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11892605 PHF19 PHD finger protein 19 gene DOID:630 genetic disease ISO RGD:1321268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11892633 LOC100986895 olfactory receptor 6V1 gene DOID:630 genetic disease ISO RGD:1345347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11892639 DNM1 dynamin 1 gene DOID:0050562 West syndrome ISO RGD:733748 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: West syndrome PMID:25741868 11892639 DNM1 dynamin 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733748 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11892639 DNM1 dynamin 1 gene DOID:0050753 cerebellar ataxia ISO RGD:733748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:28492532|PMID:28554332|PMID:34386584 11892639 DNM1 dynamin 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1552716 D RGD:9068941 20200609 RGD PMID:27363778|REF_RGD_ID:11557016 11892639 DNM1 dynamin 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:733748 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11892639 DNM1 dynamin 1 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:733748 D RGD:7240710 20180130 OMIM 11892639 DNM1 dynamin 1 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:733748 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 31B, autosomal recessive | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:10608808|PMID:11031245|PMID:11553700|PMID:17576681|PMID:18469812|PMID:19084268|PMID:20428113|PMID:20887364|PMID:22722545|PMID:23781021|PMID:23977156|PMID:25262651|PMID:25533962|PMID:25741868|PMID:25741869|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26611353|PMID:26865513|PMID:27066543|PMID:27806796|PMID:28135719|PMID:28492532|PMID:28554332|PMID:28667181|PMID:29264391|PMID:29314763|PMID:29397573|PMID:29427836|PMID:29668686|PMID:30097719|PMID:30455886|PMID:31920647|PMID:32909139|PMID:33004838|PMID:34172529|PMID:34386584|PMID:36413998|PMID:36553519|PMID:8335685|PMID:9536098 11892639 DNM1 dynamin 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:733748 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868|PMID:30097719|PMID:32909139|PMID:36413998 11892639 DNM1 dynamin 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733748 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11892639 DNM1 dynamin 1 gene DOID:10652 Alzheimer's disease ISO RGD:1552716 D RGD:9068941 20200609 RGD denntate gyrus, hippocampus, entorhinal cortex PMID:20847448|REF_RGD_ID:13506238 11892639 DNM1 dynamin 1 gene DOID:10652 Alzheimer's disease ISO RGD:71096 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:hippocampus, temporal cortex PMID:20847448|REF_RGD_ID:13506238 11892639 DNM1 dynamin 1 gene DOID:10652 Alzheimer's disease ISO RGD:733748 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus,entorhinal cortex: PMID:20847448|REF_RGD_ID:13506238 11892639 DNM1 dynamin 1 gene DOID:1826 epilepsy ISO RGD:733748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 11892639 DNM1 dynamin 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1552716 D RGD:9068941 20220825 MouseDO OMIM:600669 | OMIM:604827 | OMIM:606972 | OMIM:607628 | OMIM:607682 | OMIM:608762 | OMIM:609750 | OMIM:611136 | OMIM:611934 | OMIM:612899 | OMIM:613060 | OMIM:614847 | OMIM:616685 11892639 DNM1 dynamin 1 gene DOID:630 genetic disease ISO RGD:733748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10608808|PMID:11031245|PMID:11553700|PMID:17576681|PMID:17636067|PMID:19084268|PMID:20428113|PMID:21927000|PMID:21962493|PMID:23584531|PMID:23781021|PMID:23977156|PMID:25262651|PMID:25312384|PMID:25533962|PMID:25741868|PMID:26302298|PMID:26467025|PMID:26611353|PMID:28135719|PMID:28492532|PMID:28667181|PMID:29314763|PMID:29427836|PMID:29668686|PMID:30455886|PMID:8335685|PMID:9536098 11892639 DNM1 dynamin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 11892639 DNM1 dynamin 1 gene DOID:9006855 Dog Diseases ISO RGD:733748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806795 11892639 DNM1 dynamin 1 gene DOID:9006878 Exercise Intolerance ISO RGD:12058818 D RGD:9068941 20220121 OMIA Exercise-induced collapse PMID:18806795|PMID:18981194|PMID:19122058|PMID:21782486|PMID:21866517|PMID:22104507|PMID:23387942|PMID:23445289|PMID:24069350|PMID:27487345|PMID:27685362|PMID:30650096|PMID:34946876|PMID:9918153 11892639 DNM1 dynamin 1 gene DOID:9008582 Developmental Disease ISO RGD:733748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11892686 DKK3 dickkopf WNT signaling pathway inhibitor 3 gene DOID:0050770 polycystic liver disease ISO RGD:1353433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 11892686 DKK3 dickkopf WNT signaling pathway inhibitor 3 gene DOID:1059 intellectual disability ISO RGD:1353433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11892686 DKK3 dickkopf WNT signaling pathway inhibitor 3 gene DOID:630 genetic disease ISO RGD:1353433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11892686 DKK3 dickkopf WNT signaling pathway inhibitor 3 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1353433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease 11892686 DKK3 dickkopf WNT signaling pathway inhibitor 3 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1353433 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 11892686 DKK3 dickkopf WNT signaling pathway inhibitor 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1353433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11892729 TRMT5 tRNA methyltransferase 5 gene DOID:0111490 combined oxidative phosphorylation deficiency 26 ISO RGD:1315256 D RGD:7240710 20180130 OMIM 11892729 TRMT5 tRNA methyltransferase 5 gene DOID:0111490 combined oxidative phosphorylation deficiency 26 ISO RGD:1315256 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 26 | ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY WITH VARIABLE SPASTICITY, EXERCISE INTOLERANCE, AND DEVELOPMENTAL DELAY PMID:2544623|PMID:25741868|PMID:26189817|PMID:28492532|PMID:29021354|PMID:31038196|PMID:35342985 11892729 TRMT5 tRNA methyltransferase 5 gene DOID:630 genetic disease ISO RGD:1315256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11892729 TRMT5 tRNA methyltransferase 5 gene DOID:9007844 Branchiootic Syndrome 3 ISO RGD:1315256 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Branchiootic syndrome 3 PMID:25414181|PMID:28492532 11892749 AK9 adenylate kinase 9 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1354002 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 11892749 AK9 adenylate kinase 9 gene DOID:630 genetic disease ISO RGD:1354002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11892794 KNTC1 kinetochore associated 1 gene DOID:10283 prostate cancer ISO RGD:1317369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11892794 KNTC1 kinetochore associated 1 gene DOID:630 genetic disease ISO RGD:1317369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11892870 CYFIP1 cytoplasmic FMR1 interacting protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1321175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21187176|PMID:21844811|PMID:23044707|PMID:23495136|PMID:25255310|PMID:25741868|PMID:27569545 11892870 CYFIP1 cytoplasmic FMR1 interacting protein 1 gene DOID:0060041 autism spectrum disorder susceptibility ISO RGD:1321175 D RGD:9068941 20200609 RGD DNA:snp:exon:c.2458G>A (rs7170637) (human) PMID:24442360|REF_RGD_ID:11558013 11892870 CYFIP1 cytoplasmic FMR1 interacting protein 1 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1321175 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome PMID:31690835 11892870 CYFIP1 cytoplasmic FMR1 interacting protein 1 gene DOID:0080600 COVID-19 ISO RGD:1321175 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11892870 CYFIP1 cytoplasmic FMR1 interacting protein 1 gene DOID:0110811 hereditary spastic paraplegia 6 ISO RGD:1321175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 PMID:17268193|PMID:23032108|PMID:25689425|PMID:28492532 11892870 CYFIP1 cytoplasmic FMR1 interacting protein 1 gene DOID:0111715 Schaaf-Yang syndrome ISO RGD:1321175 D RGD:9068941 20200609 RGD associated with Fragile X Syndrome;mRNA:decreased expression:leukocyte (human) PMID:17435464|REF_RGD_ID:11558012 11892870 CYFIP1 cytoplasmic FMR1 interacting protein 1 gene DOID:1059 intellectual disability ISO RGD:1321175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11892870 CYFIP1 cytoplasmic FMR1 interacting protein 1 gene DOID:12849 autistic disorder ISO RGD:1321175 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 11892870 CYFIP1 cytoplasmic FMR1 interacting protein 1 gene DOID:14261 fragile X syndrome ISO RGD:1321176 D RGD:9068941 20200609 RGD PMID:22900020|REF_RGD_ID:11558008 11892870 CYFIP1 cytoplasmic FMR1 interacting protein 1 gene DOID:1932 Angelman syndrome ISO RGD:1321175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome 11892870 CYFIP1 cytoplasmic FMR1 interacting protein 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:1310332 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hippocampus, cerebral cortex (rat) PMID:26000921|REF_RGD_ID:11568065 11892870 CYFIP1 cytoplasmic FMR1 interacting protein 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:1321175 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:temporal lobe (human) PMID:26000921|REF_RGD_ID:11568065 11892870 CYFIP1 cytoplasmic FMR1 interacting protein 1 gene DOID:5419 schizophrenia ISO RGD:1321175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11892870 CYFIP1 cytoplasmic FMR1 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1321175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11892870 CYFIP1 cytoplasmic FMR1 interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 11892909 IFITM1 interferon induced transmembrane protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316889 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11892909 IFITM1 interferon induced transmembrane protein 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:1316889 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11892909 IFITM1 interferon induced transmembrane protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316889 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11892909 IFITM1 interferon induced transmembrane protein 1 gene DOID:3500 gallbladder adenocarcinoma disease_progression ISO RGD:1316889 D RGD:9068941 20230427 RGD PMID:29043607|REF_RGD_ID:150429712 11892909 IFITM1 interferon induced transmembrane protein 1 gene DOID:5627 adenosquamous gallbladder carcinoma disease_progression ISO RGD:1316889 D RGD:9068941 20230427 RGD PMID:29043607|REF_RGD_ID:150429712 11892909 IFITM1 interferon induced transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:1316889 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11892909 IFITM1 interferon induced transmembrane protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316889 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11892916 C1H1orf35 chromosome 1 C1orf35 homolog gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:1312112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:28492532 11892916 C1H1orf35 chromosome 1 C1orf35 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1312112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11892916 C1H1orf35 chromosome 1 C1orf35 homolog gene DOID:630 genetic disease ISO RGD:1312112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11892916 C1H1orf35 chromosome 1 C1orf35 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11892932 ZSWIM1 zinc finger SWIM-type containing 1 gene DOID:2234 focal epilepsy ISO RGD:1313910 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11892932 ZSWIM1 zinc finger SWIM-type containing 1 gene DOID:630 genetic disease ISO RGD:1313910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11892932 ZSWIM1 zinc finger SWIM-type containing 1 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1313910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11892953 MED13 mediator complex subunit 13 gene DOID:0060041 autism spectrum disorder ISO RGD:1312495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11892953 MED13 mediator complex subunit 13 gene DOID:0070068 autosomal dominant intellectual developmental disorder 38 ISO RGD:1312495 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 38 PMID:25741868 11892953 MED13 mediator complex subunit 13 gene DOID:1059 intellectual disability ISO RGD:1312495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11892953 MED13 mediator complex subunit 13 gene DOID:11372 megacolon ISO RGD:1312495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11892953 MED13 mediator complex subunit 13 gene DOID:12849 autistic disorder ISO RGD:1312495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868 11892953 MED13 mediator complex subunit 13 gene DOID:1826 epilepsy ISO RGD:1312495 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11892953 MED13 mediator complex subunit 13 gene DOID:630 genetic disease ISO RGD:1312495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11892953 MED13 mediator complex subunit 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312495 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11892953 MED13 mediator complex subunit 13 gene DOID:9005864 Autosomal Dominant Intellectual Developmental Disorder 61 ISO RGD:1312495 D RGD:7240710 20200226 OMIM 11892953 MED13 mediator complex subunit 13 gene DOID:9005864 Autosomal Dominant Intellectual Developmental Disorder 61 ISO RGD:1312495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder 61 PMID:25741868|PMID:29740699 11892953 MED13 mediator complex subunit 13 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1304829 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary PMID:25287062|REF_RGD_ID:9681715 11892953 MED13 mediator complex subunit 13 gene DOID:9008582 Developmental Disease ISO RGD:1312495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11892987 ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide gene DOID:14330 Parkinson's disease ISO RGD:732808 D RGD:9068941 20220825 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 11892987 ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide gene DOID:630 genetic disease ISO RGD:737541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11892987 ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide gene DOID:9000117 Esophageal Neoplasms ISO RGD:737541 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18500343 11892987 ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide gene DOID:9002346 Pharyngeal Neoplasms ISO RGD:737541 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18500343 11892987 ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide gene DOID:9003613 Laryngeal Neoplasms ISO RGD:737541 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18500343 11892987 ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide gene DOID:9007364 Mouth Neoplasms ISO RGD:737541 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18500343 11893007 TUBB2A tubulin beta 2A class IIa gene DOID:0070338 cerebellar hypoplasia ISO RGD:1347978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:24702957|PMID:25741868|PMID:31474318 11893007 TUBB2A tubulin beta 2A class IIa gene DOID:0090135 complex cortical dysplasia with other brain malformations 5 ISO RGD:1347978 D RGD:7240710 20200610 OMIM 11893007 TUBB2A tubulin beta 2A class IIa gene DOID:0090135 complex cortical dysplasia with other brain malformations 5 ISO RGD:1347978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 5 PMID:24702957|PMID:25326637|PMID:25741868|PMID:27770045|PMID:28492532|PMID:28840640|PMID:29198720|PMID:29547997|PMID:31474318|PMID:32203252|PMID:32571897|PMID:33547136|PMID:33776625 11893007 TUBB2A tubulin beta 2A class IIa gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1347978 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:23349890 11893007 TUBB2A tubulin beta 2A class IIa gene DOID:1826 epilepsy ISO RGD:1347978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25326637|PMID:25741868|PMID:28492532 11893007 TUBB2A tubulin beta 2A class IIa gene DOID:630 genetic disease ISO RGD:1347978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24702957|PMID:25741868|PMID:27770045|PMID:28492532|PMID:28840640|PMID:29547997|PMID:32203252|PMID:32571897|PMID:33547136 11893007 TUBB2A tubulin beta 2A class IIa gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1347978 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11893007 TUBB2A tubulin beta 2A class IIa gene DOID:8725 vascular dementia ISO RGD:1347978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 11893007 TUBB2A tubulin beta 2A class IIa gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1347978 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 11893007 TUBB2A tubulin beta 2A class IIa gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11893007 TUBB2A tubulin beta 2A class IIa gene DOID:9008582 Developmental Disease ISO RGD:1347978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11893007 TUBB2A tubulin beta 2A class IIa gene DOID:9119 acute myeloid leukemia ISO RGD:1347978 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11893014 DOK5 docking protein 5 gene DOID:630 genetic disease ISO RGD:1343098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893030 MFF mitochondrial fission factor gene DOID:224 transient cerebral ischemia treatment ISO RGD:1310230 D RGD:9068941 20200609 RGD PMID:26116440|REF_RGD_ID:12879457 11893030 MFF mitochondrial fission factor gene DOID:5844 myocardial infarction ISO RGD:1321011 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23867156 11893030 MFF mitochondrial fission factor gene DOID:5844 myocardial infarction treatment ISO RGD:1321012 D RGD:9068941 20200609 RGD PMID:23867156|REF_RGD_ID:12879458 11893030 MFF mitochondrial fission factor gene DOID:630 genetic disease ISO RGD:1321011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11893030 MFF mitochondrial fission factor gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1321011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial encephalomyopathy PMID:22499341|PMID:25558065 11893030 MFF mitochondrial fission factor gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1321011 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23867156 11893030 MFF mitochondrial fission factor gene DOID:9002077 Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 2 ISO RGD:1321011 D RGD:7240710 20190315 OMIM 11893030 MFF mitochondrial fission factor gene DOID:9002077 Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 2 ISO RGD:1321011 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 2 PMID:22499341|PMID:25558065|PMID:25741868|PMID:26783368|PMID:28492532|PMID:32181496|PMID:34750646 11893079 GTPBP8 GTP binding protein 8 (putative) gene DOID:630 genetic disease ISO RGD:1606015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893089 MOGAT1 monoacylglycerol O-acyltransferase 1 gene DOID:630 genetic disease ISO RGD:1323209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893089 MOGAT1 monoacylglycerol O-acyltransferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11893097 CCDC141 coiled-coil domain containing 141 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1606113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 11893097 CCDC141 coiled-coil domain containing 141 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1606113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25741868|PMID:28492532 11893097 CCDC141 coiled-coil domain containing 141 gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1606113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532|PMID:30557390 11893097 CCDC141 coiled-coil domain containing 141 gene DOID:1921 Klinefelter syndrome ISO RGD:1606113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 11893097 CCDC141 coiled-coil domain containing 141 gene DOID:1923 disorder of sexual development ISO RGD:1606113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 11893097 CCDC141 coiled-coil domain containing 141 gene DOID:630 genetic disease ISO RGD:1606113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11893125 GRM4 glutamate metabotropic receptor 4 gene DOID:0050553 JMP syndrome ISO RGD:731311 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11893125 GRM4 glutamate metabotropic receptor 4 gene DOID:3328 temporal lobe epilepsy ISO RGD:731311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15694259 11893125 GRM4 glutamate metabotropic receptor 4 gene DOID:3347 osteosarcoma ISO RGD:731311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23727862 11893125 GRM4 glutamate metabotropic receptor 4 gene DOID:630 genetic disease ISO RGD:731311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893125 GRM4 glutamate metabotropic receptor 4 gene DOID:9002955 Nerve Degeneration ISO RGD:731311 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17446080 11893153 PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1347426 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 11893153 PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1 gene DOID:0080600 COVID-19 ISO RGD:1347426 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11893153 PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1 gene DOID:0080600 COVID-19 ISO RGD:1347426 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 11893153 PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1 gene DOID:0111988 immunodeficiency 12 ISO RGD:1347426 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 11893153 PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1 gene DOID:303 substance-related disorder ISO RGD:1347426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11893153 PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1 gene DOID:630 genetic disease ISO RGD:1347426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893153 PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1347426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770605 11893159 PTPRS protein tyrosine phosphatase receptor type S gene DOID:0080600 COVID-19 ISO RGD:734357 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11893159 PTPRS protein tyrosine phosphatase receptor type S gene DOID:630 genetic disease ISO RGD:734357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893159 PTPRS protein tyrosine phosphatase receptor type S gene DOID:9004538 Hearing Loss ISO RGD:734357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30872814 11893159 PTPRS protein tyrosine phosphatase receptor type S gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:734357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 11893195 LGMN legumain gene DOID:0080054 achondrogenesis type IA ISO RGD:731860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11893195 LGMN legumain gene DOID:630 genetic disease ISO RGD:731860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893195 LGMN legumain gene DOID:75 lymphatic system disease ISO RGD:1552555 D RGD:9068941 20220825 MouseDO 11893195 LGMN legumain gene DOID:9001499 Orthomyxoviridae Infections ISO RGD:731860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22916010 11893195 LGMN legumain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11893195 LGMN legumain gene DOID:9002189 High Myopia ISO RGD:731860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11893219 NIT1 nitrilase 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1349751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11893219 NIT1 nitrilase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1349751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11893219 NIT1 nitrilase 1 gene DOID:630 genetic disease ISO RGD:1349751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893219 NIT1 nitrilase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11893248 TMEM150B transmembrane protein 150B gene DOID:0080600 COVID-19 ISO RGD:2304150 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11893248 TMEM150B transmembrane protein 150B gene DOID:630 genetic disease ISO RGD:2304150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893260 RAB5C RAB5C, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1316083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11893289 ITGB6 integrin subunit beta 6 gene DOID:0110064 amelogenesis imperfecta type 1H ISO RGD:1346382 D RGD:7240710 20180130 OMIM 11893289 ITGB6 integrin subunit beta 6 gene DOID:0110064 amelogenesis imperfecta type 1H ISO RGD:1346382 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1H PMID:14970781|PMID:16838342|PMID:24305999|PMID:24319098|PMID:25741868|PMID:28492532|PMID:9189626 11893289 ITGB6 integrin subunit beta 6 gene DOID:10283 prostate cancer ISO RGD:1346382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11893289 ITGB6 integrin subunit beta 6 gene DOID:10907 microcephaly ISO RGD:1346382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11893289 ITGB6 integrin subunit beta 6 gene DOID:12849 autistic disorder ISO RGD:1346382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 11893289 ITGB6 integrin subunit beta 6 gene DOID:2841 asthma ISO RGD:1552765 D RGD:9068941 20220825 MouseDO OMIM:600807 11893289 ITGB6 integrin subunit beta 6 gene DOID:409 liver disease ISO RGD:1346382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18221819 11893289 ITGB6 integrin subunit beta 6 gene DOID:417 autoimmune disease ISO RGD:1346382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 11893289 ITGB6 integrin subunit beta 6 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1346382 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;mRNA:increased expression:liver PMID:18221819|REF_RGD_ID:2302245 11893289 ITGB6 integrin subunit beta 6 gene DOID:630 genetic disease ISO RGD:1346382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893289 ITGB6 integrin subunit beta 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1303119 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:18538673|REF_RGD_ID:2302244 11893289 ITGB6 integrin subunit beta 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18221819 11893289 ITGB6 integrin subunit beta 6 gene DOID:9003281 Spontaneous Abortions ISO RGD:1346382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11893289 ITGB6 integrin subunit beta 6 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1346382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18221819 11893289 ITGB6 integrin subunit beta 6 gene DOID:9446 cholangitis ISO RGD:1346382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 11893289 ITGB6 integrin subunit beta 6 gene DOID:9675 pulmonary emphysema ISO RGD:1346382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12634787 11893289 ITGB6 integrin subunit beta 6 gene DOID:9675 pulmonary emphysema ISO RGD:1552765 D RGD:9068941 20200609 RGD PMID:12634787|REF_RGD_ID:737734 11893289 ITGB6 integrin subunit beta 6 gene DOID:9675 pulmonary emphysema ISO RGD:1552765 D RGD:9068941 20220825 MouseDO OMIM:130700 11893311 PLCZ1 phospholipase C zeta 1 gene DOID:0070174 spermatogenic failure 17 ISO RGD:1347399 D RGD:7240710 20190315 OMIM 11893311 PLCZ1 phospholipase C zeta 1 gene DOID:0070174 spermatogenic failure 17 ISO RGD:1347399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 17 PMID:25741868|PMID:26721930|PMID:31463947 11893311 PLCZ1 phospholipase C zeta 1 gene DOID:630 genetic disease ISO RGD:1347399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893335 CTSW cathepsin W gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1319657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 11893335 CTSW cathepsin W gene DOID:1059 intellectual disability ISO RGD:1319657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11893335 CTSW cathepsin W gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1319657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11893335 CTSW cathepsin W gene DOID:2746 glycogen storage disease V ISO RGD:1319657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11893335 CTSW cathepsin W gene DOID:630 genetic disease ISO RGD:1319657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893335 CTSW cathepsin W gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1319657 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11893335 CTSW cathepsin W gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1319657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11893355 RXRG retinoid X receptor gamma gene DOID:1540 parathyroid carcinoma ISO RGD:733408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11893355 RXRG retinoid X receptor gamma gene DOID:3908 lung non-small cell carcinoma ISO RGD:733408 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:20113835|REF_RGD_ID:13503326 11893355 RXRG retinoid X receptor gamma gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:733408 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid PMID:28677753|REF_RGD_ID:13792605 11893355 RXRG retinoid X receptor gamma gene DOID:630 genetic disease ISO RGD:733408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893355 RXRG retinoid X receptor gamma gene DOID:9007102 Myocardial Ischemia ISO RGD:733408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11893355 RXRG retinoid X receptor gamma gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11893372 CDKN2C cyclin dependent kinase inhibitor 2C gene DOID:3948 adrenocortical carcinoma ISO RGD:1604405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 11893372 CDKN2C cyclin dependent kinase inhibitor 2C gene DOID:630 genetic disease ISO RGD:1604405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893372 CDKN2C cyclin dependent kinase inhibitor 2C gene DOID:684 hepatocellular carcinoma ISO RGD:1604405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11893372 CDKN2C cyclin dependent kinase inhibitor 2C gene DOID:9538 multiple myeloma ISO RGD:1604405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11893384 TLR2 toll like receptor 2 gene DOID:0050073 invasive aspergillosis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:16113258|REF_RGD_ID:8553022 11893384 TLR2 toll like receptor 2 gene DOID:0050127 sinusitis ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium: PMID:14743629|REF_RGD_ID:8552991 11893384 TLR2 toll like receptor 2 gene DOID:0050700 cardiomyopathy ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15505089 11893384 TLR2 toll like receptor 2 gene DOID:0050855 renal fibrosis ISO RGD:735138 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:22777483|REF_RGD_ID:7207895 11893384 TLR2 toll like receptor 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28963909 11893384 TLR2 toll like receptor 2 gene DOID:0060189 ileitis ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:18266231|REF_RGD_ID:2312714 11893384 TLR2 toll like receptor 2 gene DOID:0060224 atrial fibrillation ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:monocyte: PMID:19167648|REF_RGD_ID:8552974 11893384 TLR2 toll like receptor 2 gene DOID:0060322 mastoiditis ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: PMID:24690988|REF_RGD_ID:8552995 11893384 TLR2 toll like receptor 2 gene DOID:0080158 herpes simplex virus keratitis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:17686871|REF_RGD_ID:7794851 11893384 TLR2 toll like receptor 2 gene DOID:0080176 meningococcal meningitis susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:haplotype: :2477G>A(rs5743708)(human) PMID:23691182|REF_RGD_ID:7800668 11893384 TLR2 toll like receptor 2 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:29482933|REF_RGD_ID:15090806 11893384 TLR2 toll like receptor 2 gene DOID:0080784 urinary tract infection susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R753Q (human) PMID:18001294|REF_RGD_ID:7240561 11893384 TLR2 toll like receptor 2 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:735138 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:16524509|REF_RGD_ID:2312724 11893384 TLR2 toll like receptor 2 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1353654 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Turcot syndrome PMID:25741868 11893384 TLR2 toll like receptor 2 gene DOID:10140 dry eye syndrome ISO RGD:1353654 D RGD:9068941 20200609 RGD associated with Graft vs Host Disease;mRNA:increased expression:peripheral blood cell: PMID:22025895|REF_RGD_ID:8552821 11893384 TLR2 toll like receptor 2 gene DOID:10140 dry eye syndrome ISO RGD:1551003 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cornea,conjunctiva,lacrimal gland: PMID:23372055|REF_RGD_ID:8552916 11893384 TLR2 toll like receptor 2 gene DOID:10223 dermatomyositis ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:muscle PMID:19953283|REF_RGD_ID:7794747 11893384 TLR2 toll like receptor 2 gene DOID:1024 leprosy ISO RGD:1353654 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 3 PMID:11476982|PMID:12646604|PMID:15726416|PMID:19111445|PMID:25741868|PMID:28492532 11893384 TLR2 toll like receptor 2 gene DOID:1024 leprosy susceptibility ISO RGD:1353654 D RGD:7240710 20190502 OMIM 11893384 TLR2 toll like receptor 2 gene DOID:10283 prostate cancer susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:deletion:promoter:−196_−174del (human) PMID:22311043|REF_RGD_ID:7207899 11893384 TLR2 toll like receptor 2 gene DOID:1074 kidney failure ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:16177646|REF_RGD_ID:7241085 11893384 TLR2 toll like receptor 2 gene DOID:10754 otitis media ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:middle ear: PMID:23380629|REF_RGD_ID:7800666 11893384 TLR2 toll like receptor 2 gene DOID:10754 otitis media ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: PMID:24690988|REF_RGD_ID:8552995 11893384 TLR2 toll like receptor 2 gene DOID:10754 otitis media ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Haemophilus Infections; PMID:19586996|REF_RGD_ID:7777086 11893384 TLR2 toll like receptor 2 gene DOID:10754 otitis media ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Pneumococcal Infections; PMID:19414550|REF_RGD_ID:8552783 11893384 TLR2 toll like receptor 2 gene DOID:10825 essential hypertension ISO RGD:1353654 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 11893384 TLR2 toll like receptor 2 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell: PMID:23946637|REF_RGD_ID:8552827 11893384 TLR2 toll like receptor 2 gene DOID:10964 cholesteatoma of middle ear ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: PMID:24690988|REF_RGD_ID:8552995 11893384 TLR2 toll like receptor 2 gene DOID:11054 urinary bladder cancer ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:deletion:promoter:−196_−174del (human) PMID:23142523|REF_RGD_ID:7207893 11893384 TLR2 toll like receptor 2 gene DOID:11168 anogenital venereal wart ISO RGD:1353654 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 11893384 TLR2 toll like receptor 2 gene DOID:11204 allergic conjunctivitis ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Staphylococcal Infections; PMID:19358332|REF_RGD_ID:8552826 11893384 TLR2 toll like receptor 2 gene DOID:11339 pneumocystosis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:18400546|REF_RGD_ID:4145341 11893384 TLR2 toll like receptor 2 gene DOID:11506 suppurative otitis media ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:mucosa: PMID:22883581|REF_RGD_ID:7800662 11893384 TLR2 toll like receptor 2 gene DOID:12148 alveolar echinococcosis ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA:increased expression:PBMC PMID:30141853|REF_RGD_ID:15090814 11893384 TLR2 toll like receptor 2 gene DOID:12306 vitiligo susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.R753Q(human) PMID:22429552|REF_RGD_ID:7777152 11893384 TLR2 toll like receptor 2 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:19019963|REF_RGD_ID:4889534 11893384 TLR2 toll like receptor 2 gene DOID:13001 carotid stenosis treatment ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:22167462|REF_RGD_ID:7241095 11893384 TLR2 toll like receptor 2 gene DOID:13078 eumycotic mycetoma ISO RGD:1551003 D RGD:9068941 20200609 RGD mRNA:increased expression:footpad: PMID:21205004|REF_RGD_ID:7794752 11893384 TLR2 toll like receptor 2 gene DOID:13241 Behcet's disease ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA:increased expression:intestine: PMID:18336589|REF_RGD_ID:8552915 11893384 TLR2 toll like receptor 2 gene DOID:13241 Behcet's disease ISO RGD:1353654 D RGD:9068941 20200609 RGD protein,mRNA:increased expression:peripheral blood mononuclear cell PMID:23908180|REF_RGD_ID:8552883 11893384 TLR2 toll like receptor 2 gene DOID:13241 Behcet's disease no_association ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphism: :12408G>A(human) PMID:19796535|REF_RGD_ID:8552888 11893384 TLR2 toll like receptor 2 gene DOID:13241 Behcet's disease susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:SNPs: : rs2289318,rs3804099(human) PMID:24255044|REF_RGD_ID:8552885 11893384 TLR2 toll like receptor 2 gene DOID:13258 typhoid fever ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:25667264|REF_RGD_ID:11061268 11893384 TLR2 toll like receptor 2 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA:decreased expression:alveolar macrophage PMID:20813038|REF_RGD_ID:4145301 11893384 TLR2 toll like receptor 2 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:23668840|REF_RGD_ID:8553184 11893384 TLR2 toll like receptor 2 gene DOID:13564 aspergillosis ISO RGD:1551003 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19781388|REF_RGD_ID:4145322 11893384 TLR2 toll like receptor 2 gene DOID:13580 cholestasis ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 11893384 TLR2 toll like receptor 2 gene DOID:13603 obstructive jaundice treatment ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:29366780|REF_RGD_ID:15090858 11893384 TLR2 toll like receptor 2 gene DOID:13767 clonorchiasis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:28784165|REF_RGD_ID:15090810 11893384 TLR2 toll like receptor 2 gene DOID:1407 anterior uveitis ISO RGD:1353654 D RGD:9068941 20200609 RGD PMID:17389503|REF_RGD_ID:8552823 11893384 TLR2 toll like receptor 2 gene DOID:14221 abdominal obesity-metabolic syndrome 1 susceptibility ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:19841034|REF_RGD_ID:15090861 11893384 TLR2 toll like receptor 2 gene DOID:1495 cystic echinococcosis ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood monocyte: PMID:21923667|REF_RGD_ID:18182935 11893384 TLR2 toll like receptor 2 gene DOID:1495 cystic echinococcosis disease_progression ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:mutation:cds:Arg753Gln(human) PMID:31437685|REF_RGD_ID:15090825 11893384 TLR2 toll like receptor 2 gene DOID:1580 diffuse scleroderma disease_progression ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.P631H(rs5743704)(human) PMID:21905008|REF_RGD_ID:8553044 11893384 TLR2 toll like receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:deletion:promotor:-196_-174del(human) PMID:22560646|REF_RGD_ID:7794753 11893384 TLR2 toll like receptor 2 gene DOID:1936 atherosclerosis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:17466307|REF_RGD_ID:8552973 11893384 TLR2 toll like receptor 2 gene DOID:2043 hepatitis B treatment ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:30008718|REF_RGD_ID:15090859 11893384 TLR2 toll like receptor 2 gene DOID:2297 leptospirosis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:19635914|REF_RGD_ID:7240557 11893384 TLR2 toll like receptor 2 gene DOID:2841 asthma ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:SNP: :rs3804100 (human) PMID:19148143|REF_RGD_ID:2312679 11893384 TLR2 toll like receptor 2 gene DOID:2841 asthma ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:18202345|PMID:18787777|REF_RGD_ID:4145334|REF_RGD_ID:4145343 11893384 TLR2 toll like receptor 2 gene DOID:2841 asthma severity ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R753Q(human) PMID:22402138|REF_RGD_ID:7800732 11893384 TLR2 toll like receptor 2 gene DOID:2841 asthma susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:SNP: :596T>C (human) PMID:19096003|REF_RGD_ID:4144228 11893384 TLR2 toll like receptor 2 gene DOID:2841 asthma susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:SNP: :rs4696480 (human) PMID:20685742|REF_RGD_ID:4144171 11893384 TLR2 toll like receptor 2 gene DOID:2841 asthma susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:SNP: :rs7656411 (human) PMID:20815312|REF_RGD_ID:4145352 11893384 TLR2 toll like receptor 2 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1551003 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (mouse) PMID:18256364|REF_RGD_ID:7246909 11893384 TLR2 toll like receptor 2 gene DOID:2921 glomerulonephritis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:16849506|REF_RGD_ID:7241071 11893384 TLR2 toll like receptor 2 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 11893384 TLR2 toll like receptor 2 gene DOID:2957 pulmonary tuberculosis ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple (human) PMID:20113509|REF_RGD_ID:4145320 11893384 TLR2 toll like receptor 2 gene DOID:2957 pulmonary tuberculosis ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:blood, T cell PMID:19552525|REF_RGD_ID:4145355 11893384 TLR2 toll like receptor 2 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:SNP: :rs1816702 (human) PMID:19723394|REF_RGD_ID:4145323 11893384 TLR2 toll like receptor 2 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:20298136|REF_RGD_ID:4145304 11893384 TLR2 toll like receptor 2 gene DOID:3021 acute kidney failure ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29286200 11893384 TLR2 toll like receptor 2 gene DOID:3021 acute kidney failure ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Sepsis PMID:22655058|REF_RGD_ID:7207898 11893384 TLR2 toll like receptor 2 gene DOID:3178 skin papilloma ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression,altered expression:cytoplasm,membrane, nucleus: PMID:24617037|REF_RGD_ID:8553046 11893384 TLR2 toll like receptor 2 gene DOID:3310 atopic dermatitis ISO RGD:1353654 D RGD:9068941 20200609 RGD PMID:17531301|REF_RGD_ID:8552999 11893384 TLR2 toll like receptor 2 gene DOID:3310 atopic dermatitis severity ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphism: :-16934A>T(human) PMID:19627277|REF_RGD_ID:8552997 11893384 TLR2 toll like receptor 2 gene DOID:3310 atopic dermatitis severity ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R753Q(human) PMID:22032785|REF_RGD_ID:8553048 11893384 TLR2 toll like receptor 2 gene DOID:3410 carotid artery thrombosis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:28572286|REF_RGD_ID:15090824 11893384 TLR2 toll like receptor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:20610040|REF_RGD_ID:4144177 11893384 TLR2 toll like receptor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Pneumonia PMID:19109203|REF_RGD_ID:4145324 11893384 TLR2 toll like receptor 2 gene DOID:399 tuberculosis ISO RGD:1353654 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to PMID:14979495|PMID:16081826|PMID:22992740 11893384 TLR2 toll like receptor 2 gene DOID:399 tuberculosis susceptibility ISO RGD:1353654 D RGD:7240710 20190502 OMIM 11893384 TLR2 toll like receptor 2 gene DOID:4481 allergic rhinitis ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA:decreased expression:nasal mucosa: PMID:18219831|REF_RGD_ID:7800742 11893384 TLR2 toll like receptor 2 gene DOID:4481 allergic rhinitis ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:neutrophil: PMID:22555057|REF_RGD_ID:8552993 11893384 TLR2 toll like receptor 2 gene DOID:4481 allergic rhinitis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:18381801|REF_RGD_ID:8552972 11893384 TLR2 toll like receptor 2 gene DOID:4481 allergic rhinitis severity ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R753Q(human) PMID:22402138|REF_RGD_ID:7800732 11893384 TLR2 toll like receptor 2 gene DOID:4483 rhinitis ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA:decreased expression:nasal mucosa: PMID:18219831|REF_RGD_ID:7800742 11893384 TLR2 toll like receptor 2 gene DOID:4483 rhinitis no_association ISO RGD:1353654 D RGD:9068941 20200609 RGD associated with Sinusitis;DNA:SNPs: :multiple (human) PMID:19128592|REF_RGD_ID:4145356 11893384 TLR2 toll like receptor 2 gene DOID:4483 rhinitis susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:SNPs: :597T>C, 1350T>C (human) PMID:19763595|REF_RGD_ID:4145354 11893384 TLR2 toll like receptor 2 gene DOID:4677 keratitis ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23661603 11893384 TLR2 toll like receptor 2 gene DOID:4677 keratitis ISO RGD:1353654 D RGD:9068941 20200609 RGD associated with Eye Infections, Fungal;mRNA,protein:increased expression:cornea: PMID:18398706|REF_RGD_ID:8552914 11893384 TLR2 toll like receptor 2 gene DOID:4677 keratitis ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Onchocerciasis, Ocular; PMID:17875630|REF_RGD_ID:7794840 11893384 TLR2 toll like receptor 2 gene DOID:4677 keratitis treatment ISO RGD:735138 D RGD:9068941 20200609 RGD associated with Aspergillosis: PMID:21647173|REF_RGD_ID:8552816 11893384 TLR2 toll like receptor 2 gene DOID:4692 endophthalmitis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:19995266|PMID:22163046|REF_RGD_ID:8552880|REF_RGD_ID:8553060 11893384 TLR2 toll like receptor 2 gene DOID:4989 pancreatitis ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:19260515|REF_RGD_ID:2312507 11893384 TLR2 toll like receptor 2 gene DOID:5082 liver cirrhosis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:24815695|REF_RGD_ID:15090811 11893384 TLR2 toll like receptor 2 gene DOID:552 pneumonia susceptibility ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:19011150|REF_RGD_ID:4145330 11893384 TLR2 toll like receptor 2 gene DOID:5614 eye disease ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:nasal cavity mucosa: PMID:16146574|REF_RGD_ID:8552913 11893384 TLR2 toll like receptor 2 gene DOID:6000 congestive heart failure ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29959987 11893384 TLR2 toll like receptor 2 gene DOID:630 genetic disease ISO RGD:1353654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893384 TLR2 toll like receptor 2 gene DOID:6543 acne ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:skin: PMID:18241264|REF_RGD_ID:8553025 11893384 TLR2 toll like receptor 2 gene DOID:6543 acne severity ISO RGD:1353654 D RGD:9068941 20200609 RGD PMID:20726329|REF_RGD_ID:8553024 11893384 TLR2 toll like receptor 2 gene DOID:6543 acne susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R753Q(human) PMID:20861605|REF_RGD_ID:8553023 11893384 TLR2 toll like receptor 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:deletion:promoter:-196 to -174(human) PMID:27183918|REF_RGD_ID:15090815 11893384 TLR2 toll like receptor 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:deletion:promoter:-196 to -174(human) PMID:21500195|REF_RGD_ID:15090813 11893384 TLR2 toll like receptor 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:22859216|REF_RGD_ID:18337266 11893384 TLR2 toll like receptor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 11893384 TLR2 toll like receptor 2 gene DOID:783 end stage renal disease ISO RGD:1353654 D RGD:9068941 20200609 RGD PMID:20729266|REF_RGD_ID:7240546 11893384 TLR2 toll like receptor 2 gene DOID:7894 mite infestation ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29253318 11893384 TLR2 toll like receptor 2 gene DOID:850 lung disease ISO RGD:1353654 D RGD:9068941 20200609 RGD associated with Mycobacterium avium-intracellulare Infection;DNA:polymorphism:intron (human) PMID:18602432|REF_RGD_ID:4145340 11893384 TLR2 toll like receptor 2 gene DOID:850 lung disease ISO RGD:735138 D RGD:9068941 20200609 RGD Acute Lung Injury;mRNA:increased expression:lung PMID:20441697|REF_RGD_ID:4145303 11893384 TLR2 toll like receptor 2 gene DOID:850 lung disease ISO RGD:735138 D RGD:9068941 20200609 RGD associated with Hyperoxia;mRNA, protein:increased expression:lung PMID:19956717|REF_RGD_ID:4145321 11893384 TLR2 toll like receptor 2 gene DOID:850 lung disease ISO RGD:735138 D RGD:9068941 20200609 RGD associated with Pancreatitis, Acute Necrotizing PMID:16286274|REF_RGD_ID:2312725 11893384 TLR2 toll like receptor 2 gene DOID:8534 gastroesophageal reflux disease ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:decreased expression:sputum, macrophage PMID:21426732|REF_RGD_ID:7240539 11893384 TLR2 toll like receptor 2 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735138 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum PMID:19608731|REF_RGD_ID:5128779 11893384 TLR2 toll like receptor 2 gene DOID:869 cholesteatoma ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:mucosa: PMID:22883581|REF_RGD_ID:7800662 11893384 TLR2 toll like receptor 2 gene DOID:874 bacterial pneumonia ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:18768871|REF_RGD_ID:4145337 11893384 TLR2 toll like receptor 2 gene DOID:874 bacterial pneumonia ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:19844782|REF_RGD_ID:4889533 11893384 TLR2 toll like receptor 2 gene DOID:8741 seborrheic dermatitis treatment ISO RGD:1353654 D RGD:9068941 20200609 RGD PMID:21566548|REF_RGD_ID:8553045 11893384 TLR2 toll like receptor 2 gene DOID:8867 molluscum contagiosum ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression,altered expression:cytoplasm,membrane, nucleus: PMID:24617037|REF_RGD_ID:8553046 11893384 TLR2 toll like receptor 2 gene DOID:8893 psoriasis ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell: PMID:23457721|REF_RGD_ID:7777173 11893384 TLR2 toll like receptor 2 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:1551003 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:12781911|REF_RGD_ID:7794740 11893384 TLR2 toll like receptor 2 gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:1353654 D RGD:9068941 20200609 RGD associated with Plaque,Atherosclerotic;mRNA:increased expression:mononuclear cell: PMID:23457721|REF_RGD_ID:7777173 11893384 TLR2 toll like receptor 2 gene DOID:9000641 Pain ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:24204973|REF_RGD_ID:8553185 11893384 TLR2 toll like receptor 2 gene DOID:9000889 Escherichia Coli Meningitis ISO RGD:1551003 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:12781911|REF_RGD_ID:7794740 11893384 TLR2 toll like receptor 2 gene DOID:9000972 Fever ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:22042912|REF_RGD_ID:7241096 11893384 TLR2 toll like receptor 2 gene DOID:9000998 Brain Injuries ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 11893384 TLR2 toll like receptor 2 gene DOID:9000998 Brain Injuries ISO RGD:735138 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:18316784|REF_RGD_ID:2312713 11893384 TLR2 toll like receptor 2 gene DOID:9001004 Chronic Periodontitis severity ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:gingiva: PMID:21848608|REF_RGD_ID:7794852 11893384 TLR2 toll like receptor 2 gene DOID:9001044 Choroidal Neovascularization ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Chlamydophila Infections; PMID:20393111|REF_RGD_ID:8552825 11893384 TLR2 toll like receptor 2 gene DOID:9001371 Eosinophilia ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26882889 11893384 TLR2 toll like receptor 2 gene DOID:9001472 Nasal Polyps ISO RGD:1353654 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;mRNA:increased expression:inferior nasal concha: PMID:15836755|REF_RGD_ID:8552992 11893384 TLR2 toll like receptor 2 gene DOID:9001488 Human Influenza ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:18657324|REF_RGD_ID:4145339 11893384 TLR2 toll like receptor 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:27601294|REF_RGD_ID:18182936 11893384 TLR2 toll like receptor 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:22683883|REF_RGD_ID:7241092 11893384 TLR2 toll like receptor 2 gene DOID:9001949 Fungal Eye Infections ISO RGD:735138 D RGD:9068941 20200609 RGD mRNA:increased expression:cornea PMID:19474209|REF_RGD_ID:2312502 11893384 TLR2 toll like receptor 2 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:19956717|REF_RGD_ID:4145321 11893384 TLR2 toll like receptor 2 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:16038046|REF_RGD_ID:15090805 11893384 TLR2 toll like receptor 2 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:25769561|REF_RGD_ID:15090809 11893384 TLR2 toll like receptor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21617141|REF_RGD_ID:7241083 11893384 TLR2 toll like receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:17355971|REF_RGD_ID:8553059 11893384 TLR2 toll like receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:24204973|REF_RGD_ID:8553185 11893384 TLR2 toll like receptor 2 gene DOID:9002371 Cardiotoxicity ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29959987 11893384 TLR2 toll like receptor 2 gene DOID:9002457 Experimental Arthritis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:20131263|REF_RGD_ID:8552884 11893384 TLR2 toll like receptor 2 gene DOID:9002457 Experimental Arthritis ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:21725847|REF_RGD_ID:7241099 11893384 TLR2 toll like receptor 2 gene DOID:9002498 Wallerian Degeneration ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:18003835|REF_RGD_ID:2312723 11893384 TLR2 toll like receptor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:735138 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:18644848|REF_RGD_ID:2312575 11893384 TLR2 toll like receptor 2 gene DOID:9002823 Gram-Positive Bacterial Infections ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:18354210|REF_RGD_ID:7240560 11893384 TLR2 toll like receptor 2 gene DOID:9003036 Oral Lichen Planus ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:monocyte,buccal mucosa: PMID:21544941|REF_RGD_ID:8553047 11893384 TLR2 toll like receptor 2 gene DOID:9003321 Bacterial Keratitis ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Pneumococcal Infections; PMID:23841825|REF_RGD_ID:8552886 11893384 TLR2 toll like receptor 2 gene DOID:9003321 Bacterial Keratitis ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Staphylococcal Infections; PMID:16926427|REF_RGD_ID:8552819 11893384 TLR2 toll like receptor 2 gene DOID:9003370 Dyslipidemias ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:23295061|REF_RGD_ID:7241091 11893384 TLR2 toll like receptor 2 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:28139935|REF_RGD_ID:15090829 11893384 TLR2 toll like receptor 2 gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:21190299|REF_RGD_ID:7240543 11893384 TLR2 toll like receptor 2 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:20806060|REF_RGD_ID:5130178 11893384 TLR2 toll like receptor 2 gene DOID:9003870 Herpes Simplex Encephalitis disease_progression ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:14739339|REF_RGD_ID:8553026 11893384 TLR2 toll like receptor 2 gene DOID:9004009 Reperfusion Injury ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25780291 11893384 TLR2 toll like receptor 2 gene DOID:9004009 Reperfusion Injury ISO RGD:735138 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:15912106|REF_RGD_ID:2312727 11893384 TLR2 toll like receptor 2 gene DOID:9004283 Transplant Rejection ISO RGD:1353654 D RGD:9068941 20200609 RGD kidney PMID:20628182|REF_RGD_ID:7240551 11893384 TLR2 toll like receptor 2 gene DOID:9004283 Transplant Rejection ISO RGD:1353654 D RGD:9068941 20200609 RGD liver;DNA:SNP: :p.R753Q (human) PMID:20090572|REF_RGD_ID:7240554 11893384 TLR2 toll like receptor 2 gene DOID:9004283 Transplant Rejection ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:20038715|PMID:22042224|REF_RGD_ID:7207901|REF_RGD_ID:7240555 11893384 TLR2 toll like receptor 2 gene DOID:9004283 Transplant Rejection ISO RGD:735138 D RGD:9068941 20200609 RGD kidney PMID:20628182|REF_RGD_ID:7240551 11893384 TLR2 toll like receptor 2 gene DOID:9004484 Sepsis ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:14604479|REF_RGD_ID:2312732 11893384 TLR2 toll like receptor 2 gene DOID:9004484 Sepsis ISO RGD:735138 D RGD:9068941 20200609 RGD associated with Burns;mRNA:increased expression:liver, lung, kidney PMID:12831613|REF_RGD_ID:1302750 11893384 TLR2 toll like receptor 2 gene DOID:9004484 Sepsis ISO RGD:735138 D RGD:9068941 20200609 RGD associated with Liver Diseases;mRNA:increased expression:liver PMID:19489280|REF_RGD_ID:2312497 11893384 TLR2 toll like receptor 2 gene DOID:9004538 Hearing Loss susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD associated with Meningitis,Bacterial; DNA:haplotype: :2477G>A(rs5743708)(human) PMID:22662111|REF_RGD_ID:7800663 11893384 TLR2 toll like receptor 2 gene DOID:9005372 Inflammation ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22178603 11893384 TLR2 toll like receptor 2 gene DOID:9005372 Inflammation ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Respiratory Hypersensitivity PMID:20016195|REF_RGD_ID:4889537 11893384 TLR2 toll like receptor 2 gene DOID:9005372 Inflammation ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:19479087|REF_RGD_ID:7240558 11893384 TLR2 toll like receptor 2 gene DOID:9005372 Inflammation ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:16154916|REF_RGD_ID:4889539 11893384 TLR2 toll like receptor 2 gene DOID:9005473 Bacterial Eye Infections ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23661603 11893384 TLR2 toll like receptor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:17707128|REF_RGD_ID:2312684 11893384 TLR2 toll like receptor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:16740310|REF_RGD_ID:2312491 11893384 TLR2 toll like receptor 2 gene DOID:9005930 Endotoxemia treatment ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:22172266|REF_RGD_ID:7241094 11893384 TLR2 toll like receptor 2 gene DOID:9005941 Rhinosinusitis ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:paranasal sinus PMID:22182736|REF_RGD_ID:7800733 11893384 TLR2 toll like receptor 2 gene DOID:9005941 Rhinosinusitis susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphisms:: rs3804099,rs3804100(human) PMID:21493395|REF_RGD_ID:8552975 11893384 TLR2 toll like receptor 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:11801667|PMID:20130923|REF_RGD_ID:7240552|REF_RGD_ID:7241087 11893384 TLR2 toll like receptor 2 gene DOID:9006223 Kidney Reperfusion Injury severity ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:22750071|REF_RGD_ID:7207896 11893384 TLR2 toll like receptor 2 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:23023072|REF_RGD_ID:7207894 11893384 TLR2 toll like receptor 2 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:23239000|REF_RGD_ID:7207892 11893384 TLR2 toll like receptor 2 gene DOID:9006647 Experimental Autoimmune Neuritis severity ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:19162137|REF_RGD_ID:2312712 11893384 TLR2 toll like receptor 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1353654 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:18466103|PMID:31557154 11893384 TLR2 toll like receptor 2 gene DOID:9006844 Streptococcal Infections severity ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:19179417|REF_RGD_ID:7240559 11893384 TLR2 toll like receptor 2 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cornea: PMID:20012880|REF_RGD_ID:8552969 11893384 TLR2 toll like receptor 2 gene DOID:9007073 Cough ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:decreased expression:sputum, macrophage PMID:21426732|REF_RGD_ID:7240539 11893384 TLR2 toll like receptor 2 gene DOID:9007389 Acute Tubulointerstitial Nephritis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:22194975|REF_RGD_ID:7207900 11893384 TLR2 toll like receptor 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:19274437|REF_RGD_ID:2312688 11893384 TLR2 toll like receptor 2 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:28414577|REF_RGD_ID:15090812 11893384 TLR2 toll like receptor 2 gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:1353654 D RGD:9068941 20200609 RGD PMID:25337250|REF_RGD_ID:15090826 11893384 TLR2 toll like receptor 2 gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1353654 D RGD:9068941 20200609 RGD PMID:25771704|REF_RGD_ID:15090828 11893384 TLR2 toll like receptor 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16879199|PMID:17892325 11893384 TLR2 toll like receptor 2 gene DOID:9008520 Chronic Pain ISO RGD:1353654 D RGD:9068941 20200609 RGD PMID:24204973|REF_RGD_ID:8553185 11893384 TLR2 toll like receptor 2 gene DOID:9008595 Brain Abscess ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:16239543|REF_RGD_ID:8552881 11893384 TLR2 toll like receptor 2 gene DOID:9008821 Otitis Media with Effusion ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:22336013|REF_RGD_ID:7364764 11893384 TLR2 toll like receptor 2 gene DOID:9008885 Staphylococcal Infections ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23661603 11893384 TLR2 toll like receptor 2 gene DOID:9111 cutaneous leishmaniasis ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:decreased expression:skin: PMID:20493664|REF_RGD_ID:7794748 11893384 TLR2 toll like receptor 2 gene DOID:9146 visceral leishmaniasis disease_progression ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:23589575|REF_RGD_ID:15090808 11893384 TLR2 toll like receptor 2 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1353654 D RGD:7240710 20230505 OMIM 11893384 TLR2 toll like receptor 2 gene DOID:9368 keratoconjunctivitis ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:conjnctival epithelium: PMID:15875531|REF_RGD_ID:8552813 11893384 TLR2 toll like receptor 2 gene DOID:9446 cholangitis disease_progression ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:30340822|REF_RGD_ID:15090860 11893384 TLR2 toll like receptor 2 gene DOID:9675 pulmonary emphysema ISO RGD:1551003 D RGD:9068941 20200609 RGD protein:increased expression:alveolar macrophage PMID:18399852|REF_RGD_ID:4145342 11893384 TLR2 toll like receptor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:SNP: :1350T>C (human) PMID:15699513|REF_RGD_ID:2312686 11893384 TLR2 toll like receptor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:SNP: :rs3804100 (human) PMID:19148143|REF_RGD_ID:2312679 11893384 TLR2 toll like receptor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:18029454|REF_RGD_ID:2312683 11893384 TLR2 toll like receptor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:17707128|REF_RGD_ID:2312684 11893384 TLR2 toll like receptor 2 gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:SNP: :1350T>C (human) PMID:17130564|REF_RGD_ID:2312687 11893384 TLR2 toll like receptor 2 gene DOID:9970 obesity ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:18787058|REF_RGD_ID:2312681 11893384 Tlr2 toll-like receptor 2 gene DOID:11446 sciatic neuropathy ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:21125644|REF_RGD_ID:8553062 11893404 NUDT7 nudix hydrolase 7 gene DOID:0060041 autism spectrum disorder ISO RGD:1350832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11893404 NUDT7 nudix hydrolase 7 gene DOID:630 genetic disease ISO RGD:1350832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893404 NUDT7 nudix hydrolase 7 gene DOID:9007188 Liver Neoplasms ISO RGD:1350832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 11893415 HFE homeostatic iron regulator gene DOID:0050700 cardiomyopathy ISO RGD:1345296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:16880463|PMID:16979952|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:21243428|PMID:21349849|PMID:21452290|PMID:22531912|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 11893415 HFE homeostatic iron regulator gene DOID:0050700 cardiomyopathy ISO RGD:1345296 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:16880463|PMID:16979952|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20560808|PMID:21243428|PMID:21349849|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 11893415 HFE homeostatic iron regulator gene DOID:0050700 cardiomyopathy ISO RGD:1345296 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:16880463|PMID:16979952|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20560808|PMID:21243428|PMID:21349849|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 11893415 HFE homeostatic iron regulator gene DOID:0050700 cardiomyopathy ISO RGD:1345296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20471131|PMID:20560808|PMID:21243428|PMID:21349849|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 11893415 HFE homeostatic iron regulator gene DOID:0050700 cardiomyopathy no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:missense mutation: :p.H63D (human) PMID:23861158|REF_RGD_ID:10755538 11893415 HFE homeostatic iron regulator gene DOID:0050700 cardiomyopathy treatment ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:missense mutation: :p.C282Y (human) PMID:23861158|REF_RGD_ID:10755538 11893415 HFE homeostatic iron regulator gene DOID:0050908 myelodysplastic syndrome ISO RGD:1345296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17001480 11893415 HFE homeostatic iron regulator gene DOID:0050908 myelodysplastic syndrome ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.H63D, p.C282Y (human) PMID:12624489|REF_RGD_ID:10755559 11893415 HFE homeostatic iron regulator gene DOID:0060041 autism spectrum disorder ISO RGD:1345296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20808228 11893415 HFE homeostatic iron regulator gene DOID:0080177 hepatic veno-occlusive disease susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C282Y (human) PMID:15834437|REF_RGD_ID:8694354 11893415 HFE homeostatic iron regulator gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:CDS:p.H63D PMID:11473047|REF_RGD_ID:1601452 11893415 HFE homeostatic iron regulator gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C282Y (human) PMID:9453491|REF_RGD_ID:8694420 11893415 HFE homeostatic iron regulator gene DOID:0080348 Alzheimer's disease 1 ISO RGD:1345296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Alzheimer disease type 1 | ClinVar Annotator: match by term: Early-onset familial form of Alzheimer disease PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 11893415 HFE homeostatic iron regulator gene DOID:0080348 Alzheimer's disease 1 susceptibility ISO RGD:1345296 D RGD:7240710 20230517 OMIM 11893415 HFE homeostatic iron regulator gene DOID:0111029 hemochromatosis type 1 ISO RGD:1345296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 1 PMID:10194428|PMID:10381492|PMID:10401000|PMID:10431233|PMID:10575540|PMID:10612845|PMID:10660483|PMID:10930379|PMID:10950943|PMID:10953950|PMID:11040194|PMID:11336458|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11875012|PMID:11903354|PMID:11904676|PMID:12241803|PMID:12377814|PMID:12429850|PMID:12436244|PMID:12537660|PMID:12542741|PMID:12584229|PMID:12681966|PMID:12693884|PMID:12707220|PMID:12737937|PMID:12885340|PMID:12915468|PMID:12952143|PMID:14618419|PMID:14633868|PMID:14673107|PMID:14729817|PMID:15025725|PMID:15046077|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15350019|PMID:15477198|PMID:15546588|PMID:15775762|PMID:15858186|PMID:15965644|PMID:16132052|PMID:16186539|PMID:16879202|PMID:17042772|PMID:17079357|PMID:17210810|PMID:17240320|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17576681|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:18762941|PMID:19084217|PMID:19159930|PMID:19214108|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:19681031|PMID:19759876|PMID:19787796|PMID:20107990|PMID:20117027|PMID:20301613|PMID:20471131|PMID:20560808|PMID:20609690|PMID:20722017|PMID:21243428|PMID:21349849|PMID:21411349|PMID:21452290|PMID:22531912|PMID:22624560|PMID:22890139|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:24872867|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26151776|PMID:26153218|PMID:26365338|PMID:26456104|PMID:26799139|PMID:26975792|PMID:27124787|PMID:27173269|PMID:27518069|PMID:27659401|PMID:27667161|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:29404719|PMID:29590070|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9536098|PMID:9546397|PMID:9585606|PMID:9851896|PMID:9851897|PMID:9858853 11893415 HFE homeostatic iron regulator gene DOID:0111029 hemochromatosis type 1 susceptibility ISO RGD:1345296 D RGD:7240710 20230517 OMIM 11893415 HFE homeostatic iron regulator gene DOID:0111034 hemochromatosis type 2 ISO RGD:1345296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 2 PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 11893415 HFE homeostatic iron regulator gene DOID:10652 Alzheimer's disease ISO RGD:1345296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer's disease PMID:10194428|PMID:10381492|PMID:10401000|PMID:10431233|PMID:10660483|PMID:11040194|PMID:11336458|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12377814|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:19681031|PMID:20107990|PMID:20301613|PMID:20471131|PMID:20560808|PMID:21243428|PMID:21349849|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27173269|PMID:27659401|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:29404719|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 11893415 HFE homeostatic iron regulator gene DOID:11476 osteoporosis ISO RGD:736272 D RGD:9068941 20200609 RGD associated with hemochromatosis PMID:26829642|REF_RGD_ID:14746963 11893415 HFE homeostatic iron regulator gene DOID:11713 diabetic angiopathy ISO RGD:1345296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 7 PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20471131|PMID:20560808|PMID:21243428|PMID:21349849|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 11893415 HFE homeostatic iron regulator gene DOID:11713 diabetic angiopathy susceptibility ISO RGD:1345296 D RGD:7240710 20230517 OMIM 11893415 HFE homeostatic iron regulator gene DOID:11758 iron deficiency anemia ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with celiac disease;DNA:missense mutations: :p.H63D, p.C282Y (human) PMID:29194702|REF_RGD_ID:14701052 11893415 HFE homeostatic iron regulator gene DOID:12241 beta thalassemia ISO RGD:1345296 D RGD:9068941 20200609 RGD PMID:14703689|REF_RGD_ID:10755489 11893415 HFE homeostatic iron regulator gene DOID:12241 beta thalassemia ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.C282Y (human) PMID:17160266|REF_RGD_ID:10755537 11893415 HFE homeostatic iron regulator gene DOID:12241 beta thalassemia no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.H63D, p.S65C (human) PMID:17160266|REF_RGD_ID:10755537 11893415 HFE homeostatic iron regulator gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD PMID:11040018|REF_RGD_ID:1582687 11893415 HFE homeostatic iron regulator gene DOID:13268 porphyria ISO RGD:1345296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HFE POLYMORPHISM PMID:10401000|PMID:25741868 11893415 HFE homeostatic iron regulator gene DOID:14330 Parkinson's disease ISO RGD:1345296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16824219 11893415 HFE homeostatic iron regulator gene DOID:1485 cystic fibrosis ISO RGD:1345296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12429850|PMID:12885340|PMID:14673107|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16880463|PMID:16979952|PMID:17600748|PMID:18199861|PMID:18566337|PMID:19159930|PMID:19554541|PMID:19560233|PMID:20301613|PMID:21243428|PMID:21349849|PMID:23429074|PMID:24033266|PMID:24729993|PMID:25741868|PMID:26365338|PMID:26975792|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31220083|PMID:31980526|PMID:8696333|PMID:8896550|PMID:8943161|PMID:9106528|PMID:9162021|PMID:9356458|PMID:9462220 11893415 HFE homeostatic iron regulator gene DOID:1485 cystic fibrosis ISO RGD:1345296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12429850|PMID:12885340|PMID:14673107|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17600748|PMID:18199861|PMID:18566337|PMID:19159930|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20560808|PMID:21243428|PMID:21349849|PMID:23178241|PMID:23429074|PMID:24033266|PMID:24729993|PMID:25741868|PMID:26153218|PMID:26365338|PMID:26975792|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31220083|PMID:31980526|PMID:8696333|PMID:8896550|PMID:8943161|PMID:9106528|PMID:9162021|PMID:9356458|PMID:9462220 11893415 HFE homeostatic iron regulator gene DOID:1485 cystic fibrosis severity ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.H63D, p.C282Y (human) PMID:30291871|REF_RGD_ID:14701045 11893415 HFE homeostatic iron regulator gene DOID:1612 breast cancer no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotype:cds:p.H63D, p.S65C, p.C282Y (human) PMID:15894659|REF_RGD_ID:8694349 11893415 HFE homeostatic iron regulator gene DOID:1612 breast cancer susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C282Y (human) PMID:14973098|REF_RGD_ID:8694348 11893415 HFE homeostatic iron regulator gene DOID:1883 hepatitis C ISO RGD:1345296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15865084 11893415 HFE homeostatic iron regulator gene DOID:2352 hemochromatosis ISO RGD:1345296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: HFE INTRONIC POLYMORPHISM | ClinVar Annotator: match by term: HFE POLYMORPHISM | ClinVar Annotator: match by term: Hereditary hemochromatosis PMID:10194428|PMID:10348824|PMID:10381492|PMID:10401000|PMID:10431233|PMID:10545942|PMID:10545944|PMID:10575540|PMID:10610176|PMID:10612845|PMID:10660483|PMID:10930379|PMID:10953950|PMID:11040194|PMID:11336458|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11875012|PMID:11903354|PMID:11904676|PMID:12241803|PMID:12377814|PMID:12429850|PMID:12436244|PMID:12537660|PMID:12542741|PMID:12584229|PMID:12681966|PMID:12693884|PMID:12707220|PMID:12737937|PMID:12885340|PMID:12915468|PMID:12952143|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15025725|PMID:15046077|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15324319|PMID:15347835|PMID:15350019|PMID:15477198|PMID:15546588|PMID:15775762|PMID:15858186|PMID:15965644|PMID:16132052|PMID:16186539|PMID:16199547|PMID:16879202|PMID:17042772|PMID:17079357|PMID:17210810|PMID:17240320|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17576681|PMID:17600748|PMID:17828789|PMID:18042412|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:18762941|PMID:19084217|PMID:19159930|PMID:19214108|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:19681031|PMID:19759876|PMID:19787796|PMID:20107990|PMID:20301613|PMID:20471131|PMID:20560808|PMID:21228038|PMID:21243428|PMID:21349849|PMID:21411349|PMID:21452290|PMID:22531912|PMID:22624560|PMID:22890139|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24442307|PMID:24604426|PMID:24729993|PMID:24872867|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26151776|PMID:26153218|PMID:26365338|PMID:26456104|PMID:26799139|PMID:26975792|PMID:27124787|PMID:27173269|PMID:27518069|PMID:27659401|PMID:27667161|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:29404719|PMID:29590070|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9536098|PMID:9546397|PMID:9585606|PMID:9851896|PMID:9851897|PMID:9858853 11893415 HFE homeostatic iron regulator gene DOID:2394 ovarian cancer susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.H63D (human) PMID:16216474|REF_RGD_ID:8694371 11893415 HFE homeostatic iron regulator gene DOID:3132 porphyria cutanea tarda ISO RGD:1345296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20471131|PMID:20560808|PMID:21243428|PMID:21349849|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 11893415 HFE homeostatic iron regulator gene DOID:3132 porphyria cutanea tarda no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.C282Y, p.H63D (human) PMID:17137171|REF_RGD_ID:8694367 11893415 HFE homeostatic iron regulator gene DOID:3132 porphyria cutanea tarda susceptibility ISO RGD:1345296 D RGD:7240710 20230517 OMIM 11893415 HFE homeostatic iron regulator gene DOID:3393 coronary artery disease no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD PMID:12746412|REF_RGD_ID:1582673 11893415 HFE homeostatic iron regulator gene DOID:3407 carotid artery disease no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD PMID:16886838|REF_RGD_ID:1582684 11893415 HFE homeostatic iron regulator gene DOID:341 peripheral vascular disease no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD PMID:15175819|REF_RGD_ID:1582671 11893415 HFE homeostatic iron regulator gene DOID:409 liver disease ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.C282Y (rs1800562) (human) PMID:30651232|REF_RGD_ID:14746965 11893415 HFE homeostatic iron regulator gene DOID:4346 variegate porphyria ISO RGD:1345296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Variegate porphyria PMID:10194428|PMID:10381492|PMID:10401000|PMID:10431233|PMID:10660483|PMID:10953950|PMID:11040194|PMID:11336458|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11875012|PMID:11904676|PMID:12241803|PMID:12377814|PMID:12429850|PMID:12436244|PMID:12537660|PMID:12542741|PMID:12584229|PMID:12681966|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:12952143|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15025725|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15350019|PMID:15477198|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:17042772|PMID:17210810|PMID:17240320|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17576681|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19214108|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:19681031|PMID:19759876|PMID:19787796|PMID:20107990|PMID:20301613|PMID:20471131|PMID:20560808|PMID:20609690|PMID:20722017|PMID:21243428|PMID:21349849|PMID:21411349|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27173269|PMID:27518069|PMID:27659401|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:29404719|PMID:29590070|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9536098|PMID:9585606|PMID:9851896|PMID:9851897 11893415 HFE homeostatic iron regulator gene DOID:4346 variegate porphyria susceptibility ISO RGD:1345296 D RGD:7240710 20230517 OMIM 11893415 HFE homeostatic iron regulator gene DOID:4971 myelofibrosis no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.H63D (c.408C>G) (rs1799945) (human) PMID:19258483|REF_RGD_ID:10755491 11893415 HFE homeostatic iron regulator gene DOID:4971 myelofibrosis susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.C282Y (c.1066G>A) (rs1800562) (human) PMID:19258483|REF_RGD_ID:10755491 11893415 HFE homeostatic iron regulator gene DOID:5082 liver cirrhosis ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.H63D, p.C282Y (human) PMID:27816425|REF_RGD_ID:14701047 11893415 HFE homeostatic iron regulator gene DOID:574 peripheral nervous system disease ISO RGD:1345296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 11893415 HFE homeostatic iron regulator gene DOID:5844 myocardial infarction no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD PMID:12850485|REF_RGD_ID:1582672 11893415 HFE homeostatic iron regulator gene DOID:5844 myocardial infarction susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD PMID:10491370|REF_RGD_ID:1582697 11893415 HFE homeostatic iron regulator gene DOID:630 genetic disease ISO RGD:1345296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 11893415 HFE homeostatic iron regulator gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C282Y (human) PMID:16047841|REF_RGD_ID:8694357 11893415 HFE homeostatic iron regulator gene DOID:684 hepatocellular carcinoma ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis;DNA:missense mutation:cds:p.C282Y (human) PMID:20019189|REF_RGD_ID:2317357 11893415 HFE homeostatic iron regulator gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1345296 D RGD:9068941 20200609 RGD PMID:29642405|REF_RGD_ID:14746967 11893415 HFE homeostatic iron regulator gene DOID:7148 rheumatoid arthritis ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.C282Y (rs1800562) (human) PMID:30651232|REF_RGD_ID:14746965 11893415 HFE homeostatic iron regulator gene DOID:8398 osteoarthritis ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.C282Y (rs1800562) (human) PMID:30651232|REF_RGD_ID:14746965 11893415 HFE homeostatic iron regulator gene DOID:8437 intestinal obstruction ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with cystic fibrosis;DNA:missense mutation: :p.H63D (human) PMID:30291871|REF_RGD_ID:14701045 11893415 HFE homeostatic iron regulator gene DOID:8466 retinal degeneration ISO RGD:736272 D RGD:9068941 20200609 RGD PMID:19715555|REF_RGD_ID:8694351 11893415 HFE homeostatic iron regulator gene DOID:853 polymyalgia rheumatica ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.C282Y (rs1800562) (human) PMID:30657865|REF_RGD_ID:14746966 11893415 HFE homeostatic iron regulator gene DOID:870 neuropathy ISO RGD:1345296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 11893415 HFE homeostatic iron regulator gene DOID:8778 Crohn's disease treatment ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:SNP: :rs2071303 (human) PMID:27115882|REF_RGD_ID:14701051 11893415 HFE homeostatic iron regulator gene DOID:8947 diabetic retinopathy ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.C282Y (human) PMID:15347835|REF_RGD_ID:8694362 11893415 HFE homeostatic iron regulator gene DOID:8997 polycythemia vera no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.H63D (c.408C>G) (rs1799945) (human) PMID:19258483|REF_RGD_ID:10755491 11893415 HFE homeostatic iron regulator gene DOID:8997 polycythemia vera susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.C282Y (c.1066G>A) (rs1800562) (human) PMID:19258483|REF_RGD_ID:10755491 11893415 HFE homeostatic iron regulator gene DOID:9000300 Refractory Anemia ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with Thrombocytosis;DNA:missense mutation: :p.C282Y (human) PMID:17654685|REF_RGD_ID:10755539 11893415 HFE homeostatic iron regulator gene DOID:9000300 Refractory Anemia no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with Thrombocytosis;DNA:missense mutation: :p.H63D (human) PMID:17654685|REF_RGD_ID:10755539 11893415 HFE homeostatic iron regulator gene DOID:9000412 Presenile and Senile Dementia ISO RGD:1345296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Presenile and senile dementia PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20471131|PMID:20560808|PMID:21243428|PMID:21349849|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 11893415 HFE homeostatic iron regulator gene DOID:9000641 Pain ISO RGD:1345296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pain PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 11893415 HFE homeostatic iron regulator gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:2793 D RGD:9068941 20200609 RGD mRNA:increased expression:liver, Kupffer cell (rat) PMID:18599584|REF_RGD_ID:8694397 11893415 HFE homeostatic iron regulator gene DOID:9002165 Diabetic Nephropathies ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.C282Y (human) PMID:15347835|REF_RGD_ID:8694362 11893415 HFE homeostatic iron regulator gene DOID:9003936 Cardiomegaly ISO RGD:736272 D RGD:9068941 20200609 RGD associated with hemochromatosis PMID:28720890|REF_RGD_ID:14746969 11893415 HFE homeostatic iron regulator gene DOID:9003996 Birth Weight ISO RGD:1345296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20659343 11893415 HFE homeostatic iron regulator gene DOID:9004272 Varicose Ulcer onset ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with Chronic Venous Disease;DNA:missense mutation:cds:p.H63D (human) PMID:16678024|REF_RGD_ID:8694379 11893415 HFE homeostatic iron regulator gene DOID:9004272 Varicose Ulcer susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with Chronic Venous Disease;DNA:missense mutation:cds:p.C282Y (human) PMID:16102632|REF_RGD_ID:1582685 11893415 HFE homeostatic iron regulator gene DOID:9005725 Iron Overload ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.C282Y (human) PMID:14636644|REF_RGD_ID:10755536 11893415 HFE homeostatic iron regulator gene DOID:9005725 Iron Overload ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with Beta-Thalassemia;DNA:missense mutation: :p.H63D (human) PMID:11869934|REF_RGD_ID:10755541 11893415 HFE homeostatic iron regulator gene DOID:9005725 Iron Overload no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :multiple PMID:14636644|REF_RGD_ID:10755536 11893415 HFE homeostatic iron regulator gene DOID:9005725 Iron Overload no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.C282Y, p.H63D (human) PMID:10895137|REF_RGD_ID:10755542 11893415 HFE homeostatic iron regulator gene DOID:9005734 Abdominal Pain ISO RGD:1345296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abdominal pain PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 11893415 HFE homeostatic iron regulator gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1345296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 11893415 HFE homeostatic iron regulator gene DOID:9006465 Meconium Ileus ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with cystic fibrosis;DNA:missense mutation: :p.H63D (human) PMID:30291871|REF_RGD_ID:14701045 11893415 HFE homeostatic iron regulator gene DOID:9006534 Nervous System Malformations ISO RGD:1345296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 11893415 HFE homeostatic iron regulator gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19444013|PMID:19554541|PMID:20301613|PMID:21243428|PMID:21452290|PMID:22531912|PMID:23953397|PMID:24033266|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 11893415 HFE homeostatic iron regulator gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 11893415 HFE homeostatic iron regulator gene DOID:9007102 Myocardial Ischemia susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD PMID:11545759|REF_RGD_ID:1582695 11893415 HFE homeostatic iron regulator gene DOID:9008520 Chronic Pain ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.C282Y (rs1800562) (human) PMID:30657865|REF_RGD_ID:14746966 11893415 HFE homeostatic iron regulator gene DOID:9008824 Sarcopenia ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.C282Y (rs1800562) (human) PMID:30657865|REF_RGD_ID:14746966 11893415 HFE homeostatic iron regulator gene DOID:9008914 Lead Poisoning ISO RGD:1345296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20659343 11893415 HFE homeostatic iron regulator gene DOID:9256 colorectal cancer susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation, haplotype:cds:p.C282Y (human) PMID:10383894|REF_RGD_ID:8694350 11893415 HFE homeostatic iron regulator gene DOID:9351 diabetes mellitus ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.C282Y (rs1800562) (human) PMID:30651232|REF_RGD_ID:14746965 11893415 HFE homeostatic iron regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with cystic fibrosis;DNA:missense mutation: :p.C282Y (human) PMID:30291871|REF_RGD_ID:14701045 11893415 HFE homeostatic iron regulator gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.H63D (human) PMID:20097100|REF_RGD_ID:8694381 11893415 HFE homeostatic iron regulator gene DOID:9452 fatty liver disease no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD Non-alcoholic steatohepatitis (NASH) PMID:12105842|REF_RGD_ID:1601460 11893415 HFE homeostatic iron regulator gene DOID:9538 multiple myeloma susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation, haplotype:cds:p.C282Y (human) PMID:10383894|REF_RGD_ID:8694350 11893415 HFE homeostatic iron regulator gene DOID:9663 aphthous stomatitis ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.H63D (human) PMID:28950260|REF_RGD_ID:14746964 11893415 HFE homeostatic iron regulator gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.H63D (human) PMID:17107905|REF_RGD_ID:10755558 11893415 HFE homeostatic iron regulator gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C282Y (human) PMID:10627122|REF_RGD_ID:10755557 11893415 HFE homeostatic iron regulator gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.H63D (human) PMID:10627122|REF_RGD_ID:10755557 11893415 HFE homeostatic iron regulator gene DOID:9970 obesity ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:missense mutations:CDS:p.C282Y, p.H63D (human) PMID:10705106|REF_RGD_ID:1601449 11893485 ZNF460 zinc finger protein 460 gene DOID:630 genetic disease ISO RGD:1606316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893508 NIT2 nitrilase family member 2 gene DOID:630 genetic disease ISO RGD:1346727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893560 TAS2R9 taste 2 receptor member 9 gene DOID:630 genetic disease ISO RGD:1342904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893569 ABHD17C abhydrolase domain containing 17C, depalmitoylase gene DOID:0050726 tyrosinemia type I ISO RGD:1603613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tyrosinemia type I PMID:28492532 11893569 ABHD17C abhydrolase domain containing 17C, depalmitoylase gene DOID:2717 Bloom syndrome ISO RGD:1603613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11893569 ABHD17C abhydrolase domain containing 17C, depalmitoylase gene DOID:630 genetic disease ISO RGD:1603613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893569 ABHD17C abhydrolase domain containing 17C, depalmitoylase gene DOID:9256 colorectal cancer ISO RGD:1603613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11893579 PWWP3B PWWP domain containing 3B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11893579 PWWP3B PWWP domain containing 3B gene DOID:12849 autistic disorder ISO RGD:1349980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11893579 PWWP3B PWWP domain containing 3B gene DOID:630 genetic disease ISO RGD:1349980 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893601 DDRGK1 DDRGK domain containing 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1320614 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11893601 DDRGK1 DDRGK domain containing 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1320614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11893601 DDRGK1 DDRGK domain containing 1 gene DOID:630 genetic disease ISO RGD:1320614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11893601 DDRGK1 DDRGK domain containing 1 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1320614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:26224535|PMID:28492532 11893601 DDRGK1 DDRGK domain containing 1 gene DOID:9006563 Spondyloepimetaphyseal Dysplasia, Shohat Type ISO RGD:1320614 D RGD:7240710 20190315 OMIM 11893601 DDRGK1 DDRGK domain containing 1 gene DOID:9006563 Spondyloepimetaphyseal Dysplasia, Shohat Type ISO RGD:1320614 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Shohat type PMID:25741868|PMID:28263186|PMID:28492532|PMID:8357004 11893618 GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1606107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11893618 GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1606107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11893618 GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 gene DOID:0111420 familial GPIHBP1 deficiency ISO RGD:1606107 D RGD:7240710 20180130 OMIM 11893618 GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 gene DOID:0111420 familial GPIHBP1 deficiency ISO RGD:1606107 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia, type 1D PMID:19304573|PMID:20026666|PMID:20124439|PMID:21478160|PMID:21816778|PMID:22239554|PMID:23806086|PMID:24088041|PMID:24614124|PMID:25387803|PMID:25741868|PMID:28492532|PMID:30352774|PMID:31153847|PMID:33223529 11893618 GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 gene DOID:4621 holoprosencephaly ISO RGD:1606107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11893618 GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 gene DOID:630 genetic disease ISO RGD:1606107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893627 A2ML1 alpha-2-macroglobulin like 1 gene DOID:0060578 Noonan syndrome 1 ISO RGD:1606453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 11893627 A2ML1 alpha-2-macroglobulin like 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1606453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11893627 A2ML1 alpha-2-macroglobulin like 1 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1606453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11893627 A2ML1 alpha-2-macroglobulin like 1 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1606453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11893627 A2ML1 alpha-2-macroglobulin like 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1606453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11893627 A2ML1 alpha-2-macroglobulin like 1 gene DOID:0111621 Temtamy syndrome ISO RGD:1606453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11893627 A2ML1 alpha-2-macroglobulin like 1 gene DOID:10754 otitis media ISO RGD:1606453 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nonsyndromic otitis media | ClinVar Annotator: match by term: Otitis media | ClinVar Annotator: match by term: Otitis media, susceptibility to PMID:16199547|PMID:24824130|PMID:24896146|PMID:24939586|PMID:25741868|PMID:25862627|PMID:26121085|PMID:27484237|PMID:27618447|PMID:28492532|PMID:31009165|PMID:32165824|PMID:34426522 11893627 A2ML1 alpha-2-macroglobulin like 1 gene DOID:10754 otitis media susceptibility ISO RGD:1606453 D RGD:7240710 20190502 OMIM 11893627 A2ML1 alpha-2-macroglobulin like 1 gene DOID:3490 Noonan syndrome ISO RGD:1606453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome PMID:24939586|PMID:25741868|PMID:26446362|PMID:27942422|PMID:28492532|PMID:29750912|PMID:33082526 11893627 A2ML1 alpha-2-macroglobulin like 1 gene DOID:630 genetic disease ISO RGD:1606453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28166811|PMID:28492532|PMID:33082526 11893627 A2ML1 alpha-2-macroglobulin like 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1606453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11893652 TSPAN14 tetraspanin 14 gene DOID:10652 Alzheimer's disease ISO RGD:1342494 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33589840 11893652 TSPAN14 tetraspanin 14 gene DOID:630 genetic disease ISO RGD:1342494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893672 AP5M1 adaptor related protein complex 5 subunit mu 1 gene DOID:4450 renal cell carcinoma ISO RGD:1317656 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 11893672 AP5M1 adaptor related protein complex 5 subunit mu 1 gene DOID:630 genetic disease ISO RGD:1317656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893688 MACROD2 mono-ADP ribosylhydrolase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1347920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11893688 MACROD2 mono-ADP ribosylhydrolase 2 gene DOID:0090093 hypogonadotropic hypogonadism 21 with or without anosmia ISO RGD:1347920 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 21 with or without anosmia PMID:23643382|PMID:25741868|PMID:28492532 11893688 MACROD2 mono-ADP ribosylhydrolase 2 gene DOID:12849 autistic disorder ISO RGD:1347920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11893688 MACROD2 mono-ADP ribosylhydrolase 2 gene DOID:13938 amenorrhea ISO RGD:1347920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 11893688 MACROD2 mono-ADP ribosylhydrolase 2 gene DOID:1923 disorder of sexual development ISO RGD:1347920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 11893688 MACROD2 mono-ADP ribosylhydrolase 2 gene DOID:303 substance-related disorder ISO RGD:1347920 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11893688 MACROD2 mono-ADP ribosylhydrolase 2 gene DOID:5419 schizophrenia ISO RGD:1347920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11893688 MACROD2 mono-ADP ribosylhydrolase 2 gene DOID:630 genetic disease ISO RGD:1347920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893688 MACROD2 mono-ADP ribosylhydrolase 2 gene DOID:9002189 High Myopia ISO RGD:1347920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11893688 MACROD2 mono-ADP ribosylhydrolase 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1347920 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:27064257 11893715 PAOX polyamine oxidase gene DOID:0060041 autism spectrum disorder ISO RGD:1320571 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11893715 PAOX polyamine oxidase gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1320571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11893715 PAOX polyamine oxidase gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1320571 D RGD:9068941 20220407 RGD DNA:SNPs: :rs7316, rs1046175(human) PMID:31016788|REF_RGD_ID:151667418 11893715 PAOX polyamine oxidase gene DOID:630 genetic disease ISO RGD:1320571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893715 PAOX polyamine oxidase gene DOID:9007096 Stroke ISO RGD:1320571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16269634 11893745 SRSF1 serine and arginine rich splicing factor 1 gene DOID:0050777 Joubert syndrome ISO RGD:1350049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11893745 SRSF1 serine and arginine rich splicing factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1350049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11893745 SRSF1 serine and arginine rich splicing factor 1 gene DOID:10534 stomach cancer ISO RGD:1350049 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach (human) PMID:20938052|REF_RGD_ID:11038731 11893745 SRSF1 serine and arginine rich splicing factor 1 gene DOID:1059 intellectual disability ISO RGD:1350049 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11893745 SRSF1 serine and arginine rich splicing factor 1 gene DOID:219 colon cancer ISO RGD:1350049 D RGD:9068941 20200609 RGD protein:increased expression:colon (human) PMID:17310252|REF_RGD_ID:11038730 11893745 SRSF1 serine and arginine rich splicing factor 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1350049 D RGD:9068941 20210917 RGD protein:increased expression:lung epithelium PMID:23071587|REF_RGD_ID:150429662 11893745 SRSF1 serine and arginine rich splicing factor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1350049 D RGD:9068941 20200609 RGD protein:increased expression:lung (human) PMID:20682707|REF_RGD_ID:11038729 11893745 SRSF1 serine and arginine rich splicing factor 1 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1350049 D RGD:9068941 20210917 RGD PMID:23071587|REF_RGD_ID:150429662 11893745 SRSF1 serine and arginine rich splicing factor 1 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1350049 D RGD:9068941 20210917 RGD PMID:23071587|REF_RGD_ID:150429662 11893745 SRSF1 serine and arginine rich splicing factor 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1350049 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney (human) PMID:21082031|REF_RGD_ID:11039407 11893745 SRSF1 serine and arginine rich splicing factor 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1350049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11893745 SRSF1 serine and arginine rich splicing factor 1 gene DOID:5419 schizophrenia ISO RGD:1350049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16223876 11893745 SRSF1 serine and arginine rich splicing factor 1 gene DOID:630 genetic disease ISO RGD:1350049 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893745 SRSF1 serine and arginine rich splicing factor 1 gene DOID:633 myositis ISO RGD:1350049 D RGD:9068941 20200609 RGD protein:decreased expression:muscle (human) PMID:16574722|REF_RGD_ID:11038773 11893745 SRSF1 serine and arginine rich splicing factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1587490 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:23633480|REF_RGD_ID:9685423 11893745 SRSF1 serine and arginine rich splicing factor 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:1350049 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:23228155|REF_RGD_ID:11038774 11893745 SRSF1 serine and arginine rich splicing factor 1 gene DOID:8692 myeloid leukemia ISO RGD:1350049 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:23228155|REF_RGD_ID:11038774 11893745 SRSF1 serine and arginine rich splicing factor 1 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:1350049 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections;protein:altered expression:uterine cervix (human) PMID:19718710|REF_RGD_ID:11039410 11893745 SRSF1 serine and arginine rich splicing factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1350049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 11893745 SRSF1 serine and arginine rich splicing factor 1 gene DOID:9002234 Pituitary Neoplasms ISO RGD:1350049 D RGD:9068941 20200609 RGD mRNA:increased expression:pituitary gland (human) PMID:23462647|REF_RGD_ID:11038736 11893745 SRSF1 serine and arginine rich splicing factor 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1350049 D RGD:9068941 20200609 RGD mRNA:increased expression:epithelium of female gonad (human) PMID:23748175|REF_RGD_ID:11039469 11893745 SRSF1 serine and arginine rich splicing factor 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1621394 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:15390079|REF_RGD_ID:11038777 11893756 ZNF497 zinc finger protein 497 gene DOID:630 genetic disease ISO RGD:1343501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893774 DISC1 DISC1 scaffold protein gene DOID:0050432 Asperger syndrome ISO RGD:736704 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:17579608 11893774 DISC1 DISC1 scaffold protein gene DOID:0050432 Asperger syndrome susceptibility ISO RGD:736704 D RGD:9068941 20200611 RGD DNA:SNPs: : PMID:18317464|REF_RGD_ID:5509836 11893774 DISC1 DISC1 scaffold protein gene DOID:0070085 schizophrenia 9 susceptibility ISO RGD:736704 D RGD:7240710 20200610 OMIM 11893774 DISC1 DISC1 scaffold protein gene DOID:1059 intellectual disability ISO RGD:736704 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:20002455 11893774 DISC1 DISC1 scaffold protein gene DOID:12849 autistic disorder ISO RGD:736704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11893774 DISC1 DISC1 scaffold protein gene DOID:12849 autistic disorder susceptibility ISO RGD:736704 D RGD:9068941 20200611 RGD DNA:polymorphism:microsatellite: PMID:18317464|REF_RGD_ID:5509836 11893774 DISC1 DISC1 scaffold protein gene DOID:1470 major depressive disorder ISO RGD:736704 D RGD:9068941 20200611 RGD protein:altered expression:orbitofrontal cortex PMID:15657124|REF_RGD_ID:5509834 11893774 DISC1 DISC1 scaffold protein gene DOID:1470 major depressive disorder susceptibility ISO RGD:736704 D RGD:9068941 20200611 RGD DNA:SNP:Cds:p.S704C(human) PMID:16959794|REF_RGD_ID:5509832 11893774 DISC1 DISC1 scaffold protein gene DOID:1540 parathyroid carcinoma ISO RGD:736704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11893774 DISC1 DISC1 scaffold protein gene DOID:1595 melancholic depression ISO RGD:1332081 D RGD:9068941 20220825 MouseDO OMIM:608516 11893774 DISC1 DISC1 scaffold protein gene DOID:1596 depressive disorder ISO RGD:736704 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:29643356 11893774 DISC1 DISC1 scaffold protein gene DOID:2030 anxiety disorder ISO RGD:736704 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:29643356 11893774 DISC1 DISC1 scaffold protein gene DOID:2468 psychotic disorder ISO RGD:736704 D RGD:9068941 20200611 RGD PMID:10814723|REF_RGD_ID:5509828 11893774 DISC1 DISC1 scaffold protein gene DOID:2468 psychotic disorder susceptibility ISO RGD:736704 D RGD:9068941 20200611 RGD DNA:SNPs: :multiple PMID:15386212|REF_RGD_ID:5509833 11893774 DISC1 DISC1 scaffold protein gene DOID:303 substance-related disorder severity ISO RGD:736704 D RGD:9068941 20200611 RGD protein:altered expression:orbitofrontal cortex PMID:15657124|REF_RGD_ID:5509834 11893774 DISC1 DISC1 scaffold protein gene DOID:3312 bipolar disorder ISO RGD:736704 D RGD:9068941 20200611 RGD DNA:SNPs: :rs1538979, rs821577, rs821633 (human) PMID:18317464|REF_RGD_ID:5509836 11893774 DISC1 DISC1 scaffold protein gene DOID:3312 bipolar disorder ISO RGD:736704 D RGD:9068941 20200611 RGD DNA;SNPs: :rs2738864,rs16841582 (human) PMID:21222298|REF_RGD_ID:5509829 11893774 DISC1 DISC1 scaffold protein gene DOID:3312 bipolar disorder susceptibility ISO RGD:736704 D RGD:9068941 20200611 RGD DNA:SNPs: :multiple PMID:15386212|REF_RGD_ID:5509833 11893774 DISC1 DISC1 scaffold protein gene DOID:5419 schizophrenia ISO RGD:1332081 D RGD:9068941 20220825 MouseDO OMIM:181500 11893774 DISC1 DISC1 scaffold protein gene DOID:5419 schizophrenia ISO RGD:736704 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:20531374|PMID:20561508 11893774 DISC1 DISC1 scaffold protein gene DOID:5419 schizophrenia ISO RGD:736704 D RGD:9068941 20200611 RGD PMID:10814723|REF_RGD_ID:5509828 11893774 DISC1 DISC1 scaffold protein gene DOID:5419 schizophrenia ISO RGD:736704 D RGD:9068941 20200611 RGD DNA:SNP:cds:rs6675281(human) PMID:20505556|REF_RGD_ID:5509830 11893774 DISC1 DISC1 scaffold protein gene DOID:5419 schizophrenia ISO RGD:736704 D RGD:9068941 20200611 RGD DNA:SNPs: :rs1538979, rs821577, rs821633(human) PMID:18317464|REF_RGD_ID:5509836 11893774 DISC1 DISC1 scaffold protein gene DOID:5419 schizophrenia ISO RGD:736704 D RGD:9068941 20200611 RGD protein:altered expression:orbitofrontal cortex PMID:15657124|REF_RGD_ID:5509834 11893774 DISC1 DISC1 scaffold protein gene DOID:5419 schizophrenia susceptibility ISO RGD:736704 D RGD:9068941 20200611 RGD DNA:SNPs: :multiple PMID:15386212|REF_RGD_ID:5509833 11893774 DISC1 DISC1 scaffold protein gene DOID:630 genetic disease ISO RGD:736704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893774 DISC1 DISC1 scaffold protein gene DOID:8544 chronic fatigue syndrome susceptibility ISO RGD:736704 D RGD:9068941 20200611 RGD DNA:SNP:Cds:p.S704C(human) PMID:20227423|REF_RGD_ID:5509831 11893774 DISC1 DISC1 scaffold protein gene DOID:9000641 Pain ISO RGD:736704 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:20561508 11893774 DISC1 DISC1 scaffold protein gene DOID:9002362 Hyperkinesis ISO RGD:736704 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:26754951 11893774 DISC1 DISC1 scaffold protein gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:736704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 11893774 DISC1 DISC1 scaffold protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11893774 DISC1 DISC1 scaffold protein gene DOID:9923 developmental coordination disorder ISO RGD:736704 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:26754951 11893802 IL18BP interleukin 18 binding protein gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1348622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 11893802 IL18BP interleukin 18 binding protein gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1348622 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acute promyelocytic leukemia PMID:25741868|PMID:28492532 11893802 IL18BP interleukin 18 binding protein gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1348622 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11893802 IL18BP interleukin 18 binding protein gene DOID:1059 intellectual disability ISO RGD:1348622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11893802 IL18BP interleukin 18 binding protein gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1348622 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:15566508|REF_RGD_ID:14696666 11893802 IL18BP interleukin 18 binding protein gene DOID:1485 cystic fibrosis ISO RGD:1348622 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20026745|REF_RGD_ID:4889551 11893802 IL18BP interleukin 18 binding protein gene DOID:1884 viral hepatitis ISO RGD:1348622 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatitis, fulminant viral, susceptibility to PMID:25741868|PMID:28492532|PMID:31213488 11893802 IL18BP interleukin 18 binding protein gene DOID:2349 arteriosclerosis ISO RGD:1551696 D RGD:9068941 20200609 RGD PMID:11577031|REF_RGD_ID:4892618 11893802 IL18BP interleukin 18 binding protein gene DOID:3042 allergic contact dermatitis treatment ISO RGD:1348622 D RGD:9068941 20200609 RGD PMID:12874202|REF_RGD_ID:8655940 11893802 IL18BP interleukin 18 binding protein gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1348622 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20026745|REF_RGD_ID:4889551 11893802 IL18BP interleukin 18 binding protein gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1348622 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:12462332|REF_RGD_ID:14695542 11893802 IL18BP interleukin 18 binding protein gene DOID:5844 myocardial infarction ISO RGD:1348622 D RGD:9068941 20200609 RGD PMID:19805173|REF_RGD_ID:4889400 11893802 IL18BP interleukin 18 binding protein gene DOID:630 genetic disease ISO RGD:1348622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11893802 IL18BP interleukin 18 binding protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348622 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11893802 IL18BP interleukin 18 binding protein gene DOID:9002159 Liver Reperfusion Injury ISO RGD:620042 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver PMID:25919765|REF_RGD_ID:14696667 11893802 IL18BP interleukin 18 binding protein gene DOID:9004283 Transplant Rejection ISO RGD:620042 D RGD:9068941 20200609 RGD PMID:21962809|REF_RGD_ID:8655943 11893802 IL18BP interleukin 18 binding protein gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:620042 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:18959458|REF_RGD_ID:2313895 11893802 IL18BP interleukin 18 binding protein gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1348622 D RGD:9068941 20200609 RGD PMID:19805173|REF_RGD_ID:4889400 11893802 IL18BP interleukin 18 binding protein gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1551696 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:19164288|REF_RGD_ID:4889578 11893823 GNAI3 G protein subunit alpha i3 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:731003 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11893823 GNAI3 G protein subunit alpha i3 gene DOID:10763 hypertension treatment ISO RGD:2714 D RGD:9068941 20200609 RGD PMID:15106810|REF_RGD_ID:13508592 11893823 GNAI3 G protein subunit alpha i3 gene DOID:10914 amnestic disorder ISO RGD:731003 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11350863 11893823 GNAI3 G protein subunit alpha i3 gene DOID:12849 autistic disorder ISO RGD:731003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11893823 GNAI3 G protein subunit alpha i3 gene DOID:630 genetic disease ISO RGD:731003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11893823 GNAI3 G protein subunit alpha i3 gene DOID:9000208 Auriculocondylar Syndrome ISO RGD:731003 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11893823 GNAI3 G protein subunit alpha i3 gene DOID:9002492 Auriculocondylar Syndrome 1 ISO RGD:731003 D RGD:7240710 20180130 OMIM 11893823 GNAI3 G protein subunit alpha i3 gene DOID:9002492 Auriculocondylar Syndrome 1 ISO RGD:731003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Auriculocondylar syndrome 1 PMID:11102934|PMID:22560091|PMID:23315542|PMID:25026904|PMID:25741868 11893823 GNAI3 G protein subunit alpha i3 gene DOID:9004009 Reperfusion Injury ISO RGD:2714 D RGD:9068941 20200609 RGD PMID:11367746|REF_RGD_ID:13513922 11893836 ZNF76 zinc finger protein 76 gene DOID:0050553 JMP syndrome ISO RGD:1314742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11893836 ZNF76 zinc finger protein 76 gene DOID:630 genetic disease ISO RGD:1314742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893866 TSHZ1 teashirt zinc finger homeobox 1 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1323269 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11893866 TSHZ1 teashirt zinc finger homeobox 1 gene DOID:1059 intellectual disability ISO RGD:1323269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 11893866 TSHZ1 teashirt zinc finger homeobox 1 gene DOID:630 genetic disease ISO RGD:1323269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893866 TSHZ1 teashirt zinc finger homeobox 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:1323269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 11893866 TSHZ1 teashirt zinc finger homeobox 1 gene DOID:8445 intestinal volvulus ISO RGD:1323269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11893866 TSHZ1 teashirt zinc finger homeobox 1 gene DOID:9004309 Congenital Aural Atresia ISO RGD:1323269 D RGD:7240710 20180130 OMIM 11893866 TSHZ1 teashirt zinc finger homeobox 1 gene DOID:9004309 Congenital Aural Atresia ISO RGD:1323269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aural atresia, congenital PMID:22152683|PMID:24487590|PMID:25741868 11893866 TSHZ1 teashirt zinc finger homeobox 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11893866 TSHZ1 teashirt zinc finger homeobox 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1323269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11893866 TSHZ1 teashirt zinc finger homeobox 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1323269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11893872 NOC4L nucleolar complex associated 4 homolog gene DOID:630 genetic disease ISO RGD:1604300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893872 NOC4L nucleolar complex associated 4 homolog gene DOID:9256 colorectal cancer ISO RGD:1604300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 11893890 GJA10 gap junction protein alpha 10 gene DOID:630 genetic disease ISO RGD:1603289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893907 ESPNL espin like gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1602816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11893907 ESPNL espin like gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1602816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11893907 ESPNL espin like gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1602816 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11893907 ESPNL espin like gene DOID:1059 intellectual disability ISO RGD:1602816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11893907 ESPNL espin like gene DOID:630 genetic disease ISO RGD:1602816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893907 ESPNL espin like gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1602816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11893923 IL17RB interleukin 17 receptor B gene DOID:2841 asthma ISO RGD:1622351 D RGD:9068941 20201218 RGD associated with Picornaviridae Infections PMID:25273095|REF_RGD_ID:39128256 11893923 IL17RB interleukin 17 receptor B gene DOID:630 genetic disease ISO RGD:1322830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893941 EFCC1 EF-hand and coiled-coil domain containing 1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1602687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 11893941 EFCC1 EF-hand and coiled-coil domain containing 1 gene DOID:630 genetic disease ISO RGD:1602687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893941 EFCC1 EF-hand and coiled-coil domain containing 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1602687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 11893941 EFCC1 EF-hand and coiled-coil domain containing 1 gene DOID:9270 alkaptonuria ISO RGD:1602687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11893960 PRMT1 protein arginine methyltransferase 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:731338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11893960 PRMT1 protein arginine methyltransferase 1 gene DOID:2841 asthma ISO RGD:62020 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:20423833|REF_RGD_ID:9491823 11893960 PRMT1 protein arginine methyltransferase 1 gene DOID:630 genetic disease ISO RGD:731338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893960 PRMT1 protein arginine methyltransferase 1 gene DOID:674 cleft palate ISO RGD:62312 D RGD:9068941 20221117 MouseDO 11893960 PRMT1 protein arginine methyltransferase 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:62020 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23159951|REF_RGD_ID:9491822 11893992 RAB21 RAB21, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1350890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11893992 RAB21 RAB21, member RAS oncogene family gene DOID:9970 obesity ISO RGD:1350890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 11894003 LOC100980306 olfactory receptor 5P2 gene DOID:630 genetic disease ISO RGD:1344577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894006 B4GALT3 beta-1,4-galactosyltransferase 3 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1354334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11894006 B4GALT3 beta-1,4-galactosyltransferase 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1354334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11894006 B4GALT3 beta-1,4-galactosyltransferase 3 gene DOID:630 genetic disease ISO RGD:1354334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894006 B4GALT3 beta-1,4-galactosyltransferase 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11894022 CARD11 caspase recruitment domain family member 11 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1319685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 11894022 CARD11 caspase recruitment domain family member 11 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1319685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25049379|PMID:26192916 11894022 CARD11 caspase recruitment domain family member 11 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1319685 D RGD:9068941 20200609 RGD DNA:missense mutations:exons:multiple (human) PMID:18323416|REF_RGD_ID:11100036 11894022 CARD11 caspase recruitment domain family member 11 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1319685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 11894022 CARD11 caspase recruitment domain family member 11 gene DOID:0111955 immunodeficiency 27A ISO RGD:1319685 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:25741868 11894022 CARD11 caspase recruitment domain family member 11 gene DOID:0111957 immunodeficiency 11A ISO RGD:1319685 D RGD:7240710 20180130 OMIM 11894022 CARD11 caspase recruitment domain family member 11 gene DOID:0111957 immunodeficiency 11A ISO RGD:1319685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency PMID:16199547|PMID:17576681|PMID:18323416|PMID:23027925|PMID:23129749|PMID:23149938|PMID:23374270|PMID:23561803|PMID:24033266|PMID:24728327|PMID:25352053|PMID:25741868|PMID:25930198|PMID:26289640|PMID:26861442|PMID:28492532|PMID:28824638|PMID:28826773|PMID:29472930|PMID:30170123|PMID:30894704|PMID:30940614|PMID:33202260|PMID:33859323|PMID:34573280|PMID:9536098 11894022 CARD11 caspase recruitment domain family member 11 gene DOID:0111958 immunodeficiency 11B ISO RGD:1319685 D RGD:7240710 20190315 OMIM 11894022 CARD11 caspase recruitment domain family member 11 gene DOID:0111958 immunodeficiency 11B ISO RGD:1319685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ATOPIC DERMATITIS, ELEVATED IgE, AND EOSINOPHILIA | ClinVar Annotator: match by term: Immunodeficiency 11b with atopic dermatitis PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28628108|PMID:28826773|PMID:33202260|PMID:9536098 11894022 CARD11 caspase recruitment domain family member 11 gene DOID:2841 asthma ISO RGD:1319685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Asthma PMID:18323416|PMID:23027925|PMID:23129749|PMID:25352053|PMID:25741868|PMID:26861442|PMID:28492532|PMID:28824638|PMID:29472930 11894022 CARD11 caspase recruitment domain family member 11 gene DOID:2841 asthma susceptibility ISO RGD:1319686 D RGD:9068941 20200609 RGD PMID:16751370|REF_RGD_ID:11100037 11894022 CARD11 caspase recruitment domain family member 11 gene DOID:3310 atopic dermatitis ISO RGD:1319685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23042114|PMID:28628108 11894022 CARD11 caspase recruitment domain family member 11 gene DOID:4450 renal cell carcinoma ISO RGD:1319685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 11894022 CARD11 caspase recruitment domain family member 11 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1319685 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:25384343|REF_RGD_ID:11100039 11894022 CARD11 caspase recruitment domain family member 11 gene DOID:630 genetic disease ISO RGD:1319685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11894022 CARD11 caspase recruitment domain family member 11 gene DOID:8541 Sezary's disease ISO RGD:1319685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667|PMID:26551670 11894022 CARD11 caspase recruitment domain family member 11 gene DOID:9000756 Persistent Polyclonal B-Cell Lymphocytosis ISO RGD:1319685 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.E127G, p.G116S (human) PMID:23129749|REF_RGD_ID:11100033 11894022 CARD11 caspase recruitment domain family member 11 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1319685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteopenia PMID:18323416|PMID:23027925|PMID:23129749|PMID:25352053|PMID:25741868|PMID:26861442|PMID:28492532|PMID:28824638|PMID:29472930 11894022 CARD11 caspase recruitment domain family member 11 gene DOID:9002720 Splenomegaly ISO RGD:1319685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Enlarged Spleen PMID:18323416|PMID:23027925|PMID:23129749|PMID:25352053|PMID:25741868|PMID:26861442|PMID:28492532|PMID:28824638|PMID:29472930 11894022 CARD11 caspase recruitment domain family member 11 gene DOID:9005199 B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY ISO RGD:1319685 D RGD:7240710 20180130 OMIM 11894022 CARD11 caspase recruitment domain family member 11 gene DOID:9005199 B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY ISO RGD:1319685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: B-cell expansion with NFKB and T-cell anergy PMID:17576681|PMID:18323416|PMID:23027925|PMID:23129749|PMID:23149938|PMID:24033266|PMID:25352053|PMID:25741868|PMID:25930198|PMID:26861442|PMID:28492532|PMID:28824638|PMID:29472930|PMID:30940614|PMID:9536098 11894058 SP100 SP100 nuclear antigen gene DOID:0060476 Perlman syndrome ISO RGD:1348100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11894058 SP100 SP100 nuclear antigen gene DOID:0110991 Joubert syndrome 22 ISO RGD:1348100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11894058 SP100 SP100 nuclear antigen gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11894058 SP100 SP100 nuclear antigen gene DOID:630 genetic disease ISO RGD:1348100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894095 MLN motilin gene DOID:0050553 JMP syndrome ISO RGD:1347043 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11894095 MLN motilin gene DOID:0060500 drug allergy ISO RGD:1347043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16538176 11894095 MLN motilin gene DOID:630 genetic disease ISO RGD:1347043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894108 CDH20 cadherin 20 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1313468 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11894108 CDH20 cadherin 20 gene DOID:11193 syndactyly ISO RGD:1313468 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Non-syndromic syndactyly PMID:25741868 11894108 CDH20 cadherin 20 gene DOID:630 genetic disease ISO RGD:1313468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894125 CHST5 carbohydrate sulfotransferase 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1603314 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11894125 CHST5 carbohydrate sulfotransferase 5 gene DOID:0110989 Joubert syndrome 20 ISO RGD:1603314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 20 PMID:23012439|PMID:27449316|PMID:28492532 11894125 CHST5 carbohydrate sulfotransferase 5 gene DOID:14686 Axenfeld-Rieger syndrome ISO RGD:1603314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rieger anomaly PMID:26893459 11894125 CHST5 carbohydrate sulfotransferase 5 gene DOID:630 genetic disease ISO RGD:1603314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894142 GLUD1 glutamate dehydrogenase 1 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:733213 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 11894142 GLUD1 glutamate dehydrogenase 1 gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:733213 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:25741868 11894142 GLUD1 glutamate dehydrogenase 1 gene DOID:0070217 familial hyperinsulinemic hypoglycemia 6 ISO RGD:733213 D RGD:7240710 20180130 OMIM 11894142 GLUD1 glutamate dehydrogenase 1 gene DOID:0070217 familial hyperinsulinemic hypoglycemia 6 ISO RGD:733213 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome PMID:10636977|PMID:10871207|PMID:11214910|PMID:17576681|PMID:18414213|PMID:19690084|PMID:22730017|PMID:23506826|PMID:25741868|PMID:26467025|PMID:26759084|PMID:26839063|PMID:27188453|PMID:28492532|PMID:30252420|PMID:30306091|PMID:30425915|PMID:31119523|PMID:34992182|PMID:35951311|PMID:9469993|PMID:9536098|PMID:9571225|PMID:9571255|PMID:9843361 11894142 GLUD1 glutamate dehydrogenase 1 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:733213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 11894142 GLUD1 glutamate dehydrogenase 1 gene DOID:1059 intellectual disability ISO RGD:733213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11894142 GLUD1 glutamate dehydrogenase 1 gene DOID:10652 Alzheimer's disease ISO RGD:733213 D RGD:9068941 20200609 RGD protein:increased expression, decreased oxidation:brain PMID:16298240|REF_RGD_ID:6484556 11894142 GLUD1 glutamate dehydrogenase 1 gene DOID:10652 Alzheimer's disease ISO RGD:733213 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:16341942|REF_RGD_ID:6484555 11894142 GLUD1 glutamate dehydrogenase 1 gene DOID:11832 visual epilepsy ISO RGD:2708 D RGD:9068941 20200609 RGD PMID:11240587|REF_RGD_ID:6484589 11894142 GLUD1 glutamate dehydrogenase 1 gene DOID:13413 hepatic encephalopathy ISO RGD:2708 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:2903433|REF_RGD_ID:6484661 11894142 GLUD1 glutamate dehydrogenase 1 gene DOID:1825 childhood absence epilepsy ISO RGD:2708 D RGD:9068941 20200609 RGD protein:increased expression:thalamus PMID:10975907|REF_RGD_ID:6484590 11894142 GLUD1 glutamate dehydrogenase 1 gene DOID:2018 hyperinsulinism ISO RGD:733213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperinsulinism, Dominant PMID:25741868|PMID:26467025|PMID:28492532 11894142 GLUD1 glutamate dehydrogenase 1 gene DOID:2316 brain ischemia ISO RGD:2708 D RGD:9068941 20200609 RGD protein:decreased activity:brain PMID:7808037|REF_RGD_ID:6484655 11894142 GLUD1 glutamate dehydrogenase 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:2708 D RGD:9068941 20200609 RGD PMID:18381650|REF_RGD_ID:6484554 11894142 GLUD1 glutamate dehydrogenase 1 gene DOID:3613 Canavan disease ISO RGD:1551567 D RGD:9068941 20200609 RGD protein:decreased expression:cerebellum, brain stem PMID:15016427|REF_RGD_ID:6484588 11894142 GLUD1 glutamate dehydrogenase 1 gene DOID:630 genetic disease ISO RGD:733213 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 11894142 GLUD1 glutamate dehydrogenase 1 gene DOID:885 fascioliasis ISO RGD:2708 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:10431747|REF_RGD_ID:6484593 11894142 GLUD1 glutamate dehydrogenase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:733213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19500843 11894142 GLUD1 glutamate dehydrogenase 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1551567 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:spinal cord PMID:9145307|REF_RGD_ID:6484657 11894142 GLUD1 glutamate dehydrogenase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2708 D RGD:9068941 20200609 RGD protein:decreased activity:brain PMID:7808037|REF_RGD_ID:6484655 11894142 GLUD1 glutamate dehydrogenase 1 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:733213 D RGD:9068941 20200609 RGD DNA:missense mutations: : PMID:9571255|REF_RGD_ID:1302513 11894142 GLUD1 glutamate dehydrogenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733213 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:33483742 11894142 GLUD1 glutamate dehydrogenase 1 gene DOID:9008972 Hyperammonemia ISO RGD:733213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9571255 11894142 GLUD1 glutamate dehydrogenase 1 gene DOID:9351 diabetes mellitus ISO RGD:733213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 11894142 GLUD1 glutamate dehydrogenase 1 gene DOID:9993 hypoglycemia ISO RGD:733213 D RGD:9068941 20200609 RGD familial hyperinsulinemic hypoglycemia-6,OMIM:606762;DNA:point mutation:exon:E296A PMID:10636977|REF_RGD_ID:1601353 11894143 TMEM135 transmembrane protein 135 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1603382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 11894143 TMEM135 transmembrane protein 135 gene DOID:1059 intellectual disability ISO RGD:1603382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11894143 TMEM135 transmembrane protein 135 gene DOID:3068 glioblastoma ISO RGD:1603382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11894143 TMEM135 transmembrane protein 135 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1603382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11894143 TMEM135 transmembrane protein 135 gene DOID:630 genetic disease ISO RGD:1603382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894167 SATB2 SATB homeobox 2 gene DOID:0050753 cerebellar ataxia ISO RGD:1343440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 11894167 SATB2 SATB homeobox 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1343440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11894167 SATB2 SATB homeobox 2 gene DOID:0060428 SATB2-associated syndrome ISO RGD:1343440 D RGD:7240710 20180130 OMIM 11894167 SATB2 SATB homeobox 2 gene DOID:0060428 SATB2-associated syndrome ISO RGD:1343440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Chromosome 2q32-q33 deletion syndrome | ClinVar Annotator: match by term: SATB2 associated disorder | ClinVar Annotator: match by term: SATB2-Related Disorder PMID:16199547|PMID:17377962|PMID:17576681|PMID:21343628|PMID:23788249|PMID:23925499|PMID:24301056|PMID:24884844|PMID:25118029|PMID:25251319|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25533962|PMID:25640679|PMID:25741868|PMID:25885067|PMID:26596517|PMID:26944241|PMID:27774744|PMID:28135719|PMID:28139846|PMID:28151491|PMID:28211976|PMID:28492532|PMID:28708303|PMID:28787087|PMID:29023086|PMID:29436146|PMID:29987015|PMID:30575289|PMID:31021519|PMID:31302918|PMID:31849593|PMID:32581362|PMID:33004838|PMID:33624935|PMID:9536098 11894167 SATB2 SATB homeobox 2 gene DOID:0110213 isolated cleft palate ISO RGD:1343440 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Isolated cleft palate PMID:25326635|PMID:25533962|PMID:25741868|PMID:25885067|PMID:26596517|PMID:28151491|PMID:28211976|PMID:28492532|PMID:29023086|PMID:32581362 11894167 SATB2 SATB homeobox 2 gene DOID:1059 intellectual disability ISO RGD:1343440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency PMID:17377962|PMID:23925499|PMID:24301056|PMID:25741868|PMID:25885067|PMID:28151491|PMID:28492532|PMID:29023086 11894167 SATB2 SATB homeobox 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1343440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 11894167 SATB2 SATB homeobox 2 gene DOID:543 dystonia ISO RGD:1343440 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25326635|PMID:25533962|PMID:25741868|PMID:25885067|PMID:26596517|PMID:28151491|PMID:28211976|PMID:28492532|PMID:29023086|PMID:32581362 11894167 SATB2 SATB homeobox 2 gene DOID:630 genetic disease ISO RGD:1343440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12915443|PMID:17576681|PMID:18187506|PMID:21089028|PMID:24884844|PMID:25326635|PMID:25356970|PMID:25533962|PMID:25662172|PMID:25741868|PMID:25885067|PMID:26596517|PMID:26944241|PMID:27409069|PMID:27462121|PMID:28139846|PMID:28151491|PMID:28211976|PMID:28492532|PMID:29023086|PMID:29436146|PMID:30575289|PMID:31021519|PMID:31302918|PMID:32581362|PMID:9536098 11894167 SATB2 SATB homeobox 2 gene DOID:674 cleft palate ISO RGD:1343440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:17377962|PMID:23925499|PMID:24301056|PMID:25741868|PMID:25885067|PMID:28492532|PMID:29023086 11894167 SATB2 SATB homeobox 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11894167 SATB2 SATB homeobox 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1343440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26780400 11894167 SATB2 SATB homeobox 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1343440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:29987015|PMID:31849593 11894167 SATB2 SATB homeobox 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1343440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 11894167 SATB2 SATB homeobox 2 gene DOID:9008582 Developmental Disease ISO RGD:1343440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11894167 SATB2 SATB homeobox 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1343440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16960803 11894196 COPG1 COPI coat complex subunit gamma 1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1345265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 11894196 COPG1 COPI coat complex subunit gamma 1 gene DOID:1790 malignant mesothelioma ISO RGD:1345265 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26463840 11894196 COPG1 COPI coat complex subunit gamma 1 gene DOID:630 genetic disease ISO RGD:1345265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894196 COPG1 COPI coat complex subunit gamma 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1345265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 11894196 COPG1 COPI coat complex subunit gamma 1 gene DOID:9270 alkaptonuria ISO RGD:1345265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11894225 NEK10 NIMA related kinase 10 gene DOID:0111851 primary ciliary dyskinesia 44 ISO RGD:1350326 D RGD:7240710 20200318 OMIM 11894225 NEK10 NIMA related kinase 10 gene DOID:0111851 primary ciliary dyskinesia 44 ISO RGD:1350326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 44 PMID:25741868 11894225 NEK10 NIMA related kinase 10 gene DOID:630 genetic disease ISO RGD:1350326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894267 PXK PX domain containing serine/threonine kinase like gene DOID:630 genetic disease ISO RGD:1348394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894267 PXK PX domain containing serine/threonine kinase like gene DOID:7148 rheumatoid arthritis ISO RGD:1348394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842 11894267 PXK PX domain containing serine/threonine kinase like gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1348394 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 11894267 PXK PX domain containing serine/threonine kinase like gene DOID:9074 systemic lupus erythematosus ISO RGD:1348394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18204446 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:0050742 nicotine dependence ISO RGD:733809 D RGD:7240710 20230505 OMIM 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:0050742 nicotine dependence ISO RGD:733809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tobacco addiction, susceptibility to PMID:25741868|PMID:28263315|PMID:28492532 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:733809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:0080855 Parkinsonism ISO RGD:3715 D RGD:9068941 20200609 RGD protein:decreased expression:striatum PMID:15680936|REF_RGD_ID:1625663 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:10763 hypertension ISO RGD:3715 D RGD:9068941 20200609 RGD protein:increased expression:caudate-putamen PMID:9074541|REF_RGD_ID:1625656 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:11315 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12699766|PMID:15059031|PMID:19120712|PMID:22034972 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:733809 D RGD:9068941 20200609 RGD with prenatal smoke exposure;DNA:repeat:3' utr: (human) PMID:12915833|REF_RGD_ID:1358582 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:11315 D RGD:9068941 20220825 MouseDO OMIM:137580 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:12700 hyperprolactinemia treatment ISO RGD:3715 D RGD:9068941 20200609 RGD PMID:26297122|REF_RGD_ID:13506955 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:1307 dementia ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18579413 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:14330 Parkinson's disease ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16112329|PMID:16963468|PMID:19590691|PMID:9763484 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:1574 alcohol use disorder ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27219321 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:2030 anxiety disorder ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19120712 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:2769 tic disorder ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19120712 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:3070 high grade glioma ISO RGD:3715 D RGD:9068941 20200609 RGD protein:decreased expression PMID:14698456|REF_RGD_ID:1625668 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:535 sleep disorder ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24403155 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:5419 schizophrenia ISO RGD:11315 D RGD:9068941 20220825 MouseDO OMIM:181500 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:5419 schizophrenia ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762269 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:630 genetic disease ISO RGD:733809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10889530|PMID:16103889|PMID:16171832|PMID:16212992|PMID:18614672|PMID:19590515|PMID:20427663|PMID:25313507|PMID:25331903|PMID:25741868|PMID:26931468|PMID:28492532|PMID:29559554 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:670 amphetamine abuse ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12931138 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:863 nervous system disease ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12890883 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:8646 substance-induced psychosis ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12931138 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:9000123 Deglutition Disorders ISO RGD:733809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysphagia 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27219321 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:9001129 Alcohol Withdrawal Delirium ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27219321 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:9002362 Hyperkinesis ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18347339|PMID:18588534 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:9002955 Nerve Degeneration ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12871582|PMID:18206288 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:9004120 Alcohol Withdrawal Seizures ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27219321 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:9004890 Paranoid Disorders ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8825631 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:733809 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:10889530|PMID:16103889|PMID:16171832|PMID:16199547|PMID:16212992|PMID:17576681|PMID:18614672|PMID:19590515|PMID:20427663|PMID:21112253|PMID:22495311|PMID:22514303|PMID:23436987|PMID:23979605|PMID:24613933|PMID:25313507|PMID:25331903|PMID:25741436|PMID:25741868|PMID:25747272|PMID:25774383|PMID:26931468|PMID:28263315|PMID:28492532|PMID:29559554|PMID:9536098 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11320258|PMID:11746736|PMID:16537431|PMID:19602552 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:9005659 Parkinsonism-Dystonia, Infantile, 1 ISO RGD:733809 D RGD:7240710 20190424 OMIM 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:9005659 Parkinsonism-Dystonia, Infantile, 1 ISO RGD:733809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile, 1 PMID:10889530|PMID:16103889|PMID:16171832|PMID:16199547|PMID:16212992|PMID:18614672|PMID:19478460|PMID:19590515|PMID:20427663|PMID:21112253|PMID:22279524|PMID:22495311|PMID:23979605|PMID:25313507|PMID:25331903|PMID:25741436|PMID:25741868|PMID:26931468|PMID:28492532|PMID:29559554 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20875051 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:9008023 Memory Disorders ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17992686 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:9970 obesity no_association ISO RGD:733809 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:16674552|REF_RGD_ID:1625653 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:9970 obesity susceptibility ISO RGD:733809 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:12490667|REF_RGD_ID:1625655 11894289 SLC6A3 solute carrier family 6 member 3 gene DOID:9976 heroin dependence ISO RGD:3715 D RGD:9068941 20200609 RGD PMID:28598964|REF_RGD_ID:13506959 11894308 ASH2L ASH2 like, histone lysine methyltransferase complex subunit gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1313775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 11894308 ASH2L ASH2 like, histone lysine methyltransferase complex subunit gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1313775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 11894308 ASH2L ASH2 like, histone lysine methyltransferase complex subunit gene DOID:5419 schizophrenia ISO RGD:1305632 D RGD:9068941 20200609 RGD PMID:23932495|REF_RGD_ID:9586022 11894308 ASH2L ASH2 like, histone lysine methyltransferase complex subunit gene DOID:607 paraplegia ISO RGD:1313775 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11894308 ASH2L ASH2 like, histone lysine methyltransferase complex subunit gene DOID:630 genetic disease ISO RGD:1313775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894308 ASH2L ASH2 like, histone lysine methyltransferase complex subunit gene DOID:9008086 Developmental Disabilities ISO RGD:1313775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:26539891 11894335 HPCAL1 hippocalcin like 1 gene DOID:630 genetic disease ISO RGD:1348150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894335 HPCAL1 hippocalcin like 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11894352 DNAJB11 DnaJ heat shock protein family (Hsp40) member B11 gene DOID:0060575 3MC syndrome 1 ISO RGD:1316536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 11894352 DNAJB11 DnaJ heat shock protein family (Hsp40) member B11 gene DOID:12215 oligohydramnios ISO RGD:1316536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: anhydramnios PMID:25741868|PMID:35005812 11894352 DNAJB11 DnaJ heat shock protein family (Hsp40) member B11 gene DOID:2975 cystic kidney disease ISO RGD:1316536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal cyst PMID:25741868 11894352 DNAJB11 DnaJ heat shock protein family (Hsp40) member B11 gene DOID:630 genetic disease ISO RGD:1316536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:32631624 11894352 DNAJB11 DnaJ heat shock protein family (Hsp40) member B11 gene DOID:9009199 Polycystic Kidney Disease 6 with or without Polycystic Liver Disease ISO RGD:1316536 D RGD:7240710 20190315 OMIM 11894352 DNAJB11 DnaJ heat shock protein family (Hsp40) member B11 gene DOID:9009199 Polycystic Kidney Disease 6 with or without Polycystic Liver Disease ISO RGD:1316536 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 6 with or without polycystic liver disease PMID:25741868|PMID:29706351|PMID:32631624 11894366 TEX22 testis expressed 22 gene DOID:630 genetic disease ISO RGD:5132216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894384 NTS neurotensin gene DOID:11446 sciatic neuropathy ISO RGD:621612 D RGD:9068941 20200609 RGD PMID:8518953|REF_RGD_ID:9743903 11894384 NTS neurotensin gene DOID:3007 breast ductal carcinoma ISO RGD:1319092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 11894384 NTS neurotensin gene DOID:630 genetic disease ISO RGD:1319092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894384 NTS neurotensin gene DOID:9000332 Hypovolemia ISO RGD:621612 D RGD:9068941 20200609 RGD mRNA:increased expression:neuron: PMID:7721997|REF_RGD_ID:9727453 11894384 NTS neurotensin gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:621612 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:neuron: PMID:8866516|REF_RGD_ID:9743915 11894384 NTS neurotensin gene DOID:9001480 Muscle Rigidity ISO RGD:1319092 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8036282 11894384 NTS neurotensin gene DOID:9002362 Hyperkinesis ISO RGD:1319092 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3748325|PMID:6682440 11894384 NTS neurotensin gene DOID:9002457 Experimental Arthritis ISO RGD:621612 D RGD:9068941 20200609 RGD PMID:8518953|REF_RGD_ID:9743903 11894384 NTS neurotensin gene DOID:9003805 Catalepsy ISO RGD:1319092 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20882060 11894384 NTS neurotensin gene DOID:9007001 Bradycardia ISO RGD:1319092 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2326505 11894392 MEPE matrix extracellular phosphoglycoprotein gene DOID:10573 osteomalacia ISO RGD:736255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11414762 11894392 MEPE matrix extracellular phosphoglycoprotein gene DOID:630 genetic disease ISO RGD:736255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894392 MEPE matrix extracellular phosphoglycoprotein gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 11894392 MEPE matrix extracellular phosphoglycoprotein gene DOID:9002589 Bone Fractures ISO RGD:736255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22504420 11894416 PRDX1 peroxiredoxin 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11894416 PRDX1 peroxiredoxin 1 gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:733744 D RGD:7240710 20190315 OMIM 11894416 PRDX1 peroxiredoxin 1 gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:733744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:25741868|PMID:28492532 11894416 PRDX1 peroxiredoxin 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 11894416 PRDX1 peroxiredoxin 1 gene DOID:0080600 COVID-19 ISO RGD:733744 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11894416 PRDX1 peroxiredoxin 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:733744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11894416 PRDX1 peroxiredoxin 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11894416 PRDX1 peroxiredoxin 1 gene DOID:10320 asbestosis ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22537621 11894416 PRDX1 peroxiredoxin 1 gene DOID:1395 schistosomiasis ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19041905 11894416 PRDX1 peroxiredoxin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 11894416 PRDX1 peroxiredoxin 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 11894416 PRDX1 peroxiredoxin 1 gene DOID:630 genetic disease ISO RGD:733744 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11894416 PRDX1 peroxiredoxin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27517622 11894416 PRDX1 peroxiredoxin 1 gene DOID:9000058 Keloid ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 11894416 PRDX1 peroxiredoxin 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 11894416 PRDX1 peroxiredoxin 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27517622 11894416 PRDX1 peroxiredoxin 1 gene DOID:9005172 Lung Neoplasms ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22537621 11894426 GET4 guided entry of tail-anchored proteins factor 4 gene DOID:630 genetic disease ISO RGD:1323234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894426 GET4 guided entry of tail-anchored proteins factor 4 gene DOID:9007056 Congenital Disorder of Glycosylation Type IIy ISO RGD:1323234 D RGD:7240710 20230125 OMIM 11894426 GET4 guided entry of tail-anchored proteins factor 4 gene DOID:9007056 Congenital Disorder of Glycosylation Type IIy ISO RGD:1323234 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CDG IIy PMID:25741868|PMID:32395830 11894465 ZNF669 zinc finger protein 669 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1605627 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11894465 ZNF669 zinc finger protein 669 gene DOID:13938 amenorrhea ISO RGD:1605627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11894465 ZNF669 zinc finger protein 669 gene DOID:1540 parathyroid carcinoma ISO RGD:1605627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11894465 ZNF669 zinc finger protein 669 gene DOID:630 genetic disease ISO RGD:1605627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894465 ZNF669 zinc finger protein 669 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11894477 LOC103786080 ARIH2 opposite strand lncRNA gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:2298738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11894477 LOC103786080 ARIH2 opposite strand lncRNA gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:2298738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11894507 INTS7 integrator complex subunit 7 gene DOID:1540 parathyroid carcinoma ISO RGD:1604023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11894507 INTS7 integrator complex subunit 7 gene DOID:630 genetic disease ISO RGD:1604023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894507 INTS7 integrator complex subunit 7 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11894542 CYP3A43 cytochrome P450 family 3 subfamily A member 43 gene DOID:0060041 autism spectrum disorder ISO RGD:1350489 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11894542 CYP3A43 cytochrome P450 family 3 subfamily A member 43 gene DOID:2527 nephrosis ISO RGD:628709 D RGD:9068941 20200827 CTD CTD Direct Evidence: marker/mechanism PMID:18725544 11894542 CYP3A43 cytochrome P450 family 3 subfamily A member 43 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11894542 CYP3A43 cytochrome P450 family 3 subfamily A member 43 gene DOID:630 genetic disease ISO RGD:1350489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894542 CYP3A43 cytochrome P450 family 3 subfamily A member 43 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15894682 11894573 LRP12 LDL receptor related protein 12 gene DOID:0081297 oculopharyngodistal myopathy 1 ISO RGD:1312675 D RGD:7240710 20200722 OMIM 11894573 LRP12 LDL receptor related protein 12 gene DOID:0081297 oculopharyngodistal myopathy 1 ISO RGD:1312675 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oculopharyngodistal myopathy 1 PMID:25741868 11894573 LRP12 LDL receptor related protein 12 gene DOID:0111590 Cohen syndrome ISO RGD:1312675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 11894573 LRP12 LDL receptor related protein 12 gene DOID:11719 oculopharyngeal muscular dystrophy ISO RGD:1312675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31332380 11894573 LRP12 LDL receptor related protein 12 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1312675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 PMID:25741868 11894573 LRP12 LDL receptor related protein 12 gene DOID:630 genetic disease ISO RGD:1312675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894591 SNRPD2 small nuclear ribonucleoprotein D2 polypeptide gene DOID:630 genetic disease ISO RGD:1312873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894591 SNRPD2 small nuclear ribonucleoprotein D2 polypeptide gene DOID:9074 systemic lupus erythematosus ISO RGD:1312873 D RGD:9068941 20200609 RGD PMID:11823543|REF_RGD_ID:10766471 11894617 MARCHF11 membrane associated ring-CH-type finger 11 gene DOID:630 genetic disease ISO RGD:1642105 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894617 MARCHF11 membrane associated ring-CH-type finger 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1642105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11894624 GDF9 growth differentiation factor 9 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736579 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11894624 GDF9 growth differentiation factor 9 gene DOID:0080871 primary ovarian insufficiency 14 ISO RGD:736579 D RGD:7240710 20190315 OMIM 11894624 GDF9 growth differentiation factor 9 gene DOID:0080871 primary ovarian insufficiency 14 ISO RGD:736579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 14 PMID:25741868|PMID:29044499|PMID:34008892 11894624 GDF9 growth differentiation factor 9 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:736579 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 11894624 GDF9 growth differentiation factor 9 gene DOID:11612 polycystic ovary syndrome ISO RGD:736579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22825968 11894624 GDF9 growth differentiation factor 9 gene DOID:5426 primary ovarian insufficiency ISO RGD:736579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11894624 GDF9 growth differentiation factor 9 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome 11894624 GDF9 growth differentiation factor 9 gene DOID:630 genetic disease ISO RGD:736579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894624 GDF9 growth differentiation factor 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11894624 GDF9 growth differentiation factor 9 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736579 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11894641 UFM1 ubiquitin fold modifier 1 gene DOID:0080296 hypomyelinating leukodystrophy 14 ISO RGD:1344837 D RGD:7240710 20190315 OMIM 11894641 UFM1 ubiquitin fold modifier 1 gene DOID:0080296 hypomyelinating leukodystrophy 14 ISO RGD:1344837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 14 PMID:25741868|PMID:28492532|PMID:28931644|PMID:29868776|PMID:32860008 11894641 UFM1 ubiquitin fold modifier 1 gene DOID:630 genetic disease ISO RGD:1344837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894676 AGBL1 AGBL carboxypeptidase 1 gene DOID:2717 Bloom syndrome ISO RGD:1345768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11894676 AGBL1 AGBL carboxypeptidase 1 gene DOID:630 genetic disease ISO RGD:1345768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11894676 AGBL1 AGBL carboxypeptidase 1 gene DOID:9007217 Corneal Dystrophy, Fuchs Endothelial, 8 ISO RGD:1345768 D RGD:7240710 20180130 OMIM 11894676 AGBL1 AGBL carboxypeptidase 1 gene DOID:9007217 Corneal Dystrophy, Fuchs Endothelial, 8 ISO RGD:1345768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 8 PMID:24094747|PMID:25741868 11894676 AGBL1 AGBL carboxypeptidase 1 gene DOID:9256 colorectal cancer ISO RGD:1345768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11894705 ADGRA1 adhesion G protein-coupled receptor A1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1317902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11894705 ADGRA1 adhesion G protein-coupled receptor A1 gene DOID:630 genetic disease ISO RGD:1317902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894719 EIF4A1 eukaryotic translation initiation factor 4A1 gene DOID:0060041 autism spectrum disorder ISO RGD:1354204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11894719 EIF4A1 eukaryotic translation initiation factor 4A1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1354204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11894719 EIF4A1 eukaryotic translation initiation factor 4A1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1354204 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11894719 EIF4A1 eukaryotic translation initiation factor 4A1 gene DOID:12177 common variable immunodeficiency ISO RGD:1354204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11894719 EIF4A1 eukaryotic translation initiation factor 4A1 gene DOID:2729 dyskeratosis congenita ISO RGD:1354204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11894719 EIF4A1 eukaryotic translation initiation factor 4A1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1354204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11894719 EIF4A1 eukaryotic translation initiation factor 4A1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1354204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11894719 EIF4A1 eukaryotic translation initiation factor 4A1 gene DOID:630 genetic disease ISO RGD:1354204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894752 TSPAN3 tetraspanin 3 gene DOID:2717 Bloom syndrome ISO RGD:1602131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11894752 TSPAN3 tetraspanin 3 gene DOID:5419 schizophrenia ISO RGD:1602131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11894752 TSPAN3 tetraspanin 3 gene DOID:630 genetic disease ISO RGD:1602131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894752 TSPAN3 tetraspanin 3 gene DOID:9256 colorectal cancer ISO RGD:1602131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11894763 NUDCD2 NudC domain containing 2 gene DOID:630 genetic disease ISO RGD:1353286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894771 ABCB10 ATP binding cassette subfamily B member 10 gene DOID:1540 parathyroid carcinoma ISO RGD:1322567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11894771 ABCB10 ATP binding cassette subfamily B member 10 gene DOID:630 genetic disease ISO RGD:1322567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894771 ABCB10 ATP binding cassette subfamily B member 10 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1322567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 11894771 ABCB10 ATP binding cassette subfamily B member 10 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1322567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 11894771 ABCB10 ATP binding cassette subfamily B member 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11894810 ARSD arylsulfatase D gene DOID:0060292 X-linked chondrodysplasia punctata 1 ISO RGD:1353523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chondrodysplasia punctata, brachytelephalangic, autosomal | ClinVar Annotator: match by term: X-linked chondrodysplasia punctata 1 PMID:12567415|PMID:23470839|PMID:28492532|PMID:9497243 11894810 ARSD arylsulfatase D gene DOID:12849 autistic disorder ISO RGD:1353523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11894810 ARSD arylsulfatase D gene DOID:630 genetic disease ISO RGD:1353523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894810 ARSD arylsulfatase D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11894823 C7H7orf50 chromosome 7 C7orf50 homolog gene DOID:630 genetic disease ISO RGD:1603950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894838 EPPK1 epiplakin 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1343625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11894838 EPPK1 epiplakin 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1343625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11894838 EPPK1 epiplakin 1 gene DOID:2661 myoepithelioma ISO RGD:1343625 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11894838 EPPK1 epiplakin 1 gene DOID:4621 holoprosencephaly ISO RGD:1343625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11894838 EPPK1 epiplakin 1 gene DOID:630 genetic disease ISO RGD:1343625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894838 EPPK1 epiplakin 1 gene DOID:9001341 Chloracne ISO RGD:1343625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 11894843 GOLGA4 golgin A4 gene DOID:37 skin disease ISO RGD:1352947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11894843 GOLGA4 golgin A4 gene DOID:630 genetic disease ISO RGD:1352947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894843 GOLGA4 golgin A4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11894843 GOLGA4 golgin A4 gene DOID:9007964 Arsenic Poisoning ISO RGD:1352947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11894843 GOLGA4 golgin A4 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1352947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 11894875 ESX1 ESX homeobox 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11894875 ESX1 ESX homeobox 1 gene DOID:12849 autistic disorder ISO RGD:1350335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11894875 ESX1 ESX homeobox 1 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1350335 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:1720927|PMID:9633722|PMID:9634530 11894875 ESX1 ESX homeobox 1 gene DOID:630 genetic disease ISO RGD:1350335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894881 ADAMTSL5 ADAMTS like 5 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1313735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 11894881 ADAMTSL5 ADAMTS like 5 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1313735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 11894881 ADAMTSL5 ADAMTS like 5 gene DOID:5339 cyclic hematopoiesis ISO RGD:1313735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11894881 ADAMTSL5 ADAMTS like 5 gene DOID:630 genetic disease ISO RGD:1313735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894881 ADAMTSL5 ADAMTS like 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11894897 TARBP1 TAR (HIV-1) RNA binding protein 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1347235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11894897 TARBP1 TAR (HIV-1) RNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1347235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894897 TARBP1 TAR (HIV-1) RNA binding protein 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11894936 RPN2 ribophorin II gene DOID:2234 focal epilepsy ISO RGD:732277 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11894936 RPN2 ribophorin II gene DOID:5212 congenital disorder of glycosylation ISO RGD:732277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:28492532 11894936 RPN2 ribophorin II gene DOID:630 genetic disease ISO RGD:732277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11894936 RPN2 ribophorin II gene DOID:9002304 Prostatic Neoplasms ISO RGD:732277 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11894936 RPN2 ribophorin II gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:732277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 11894978 NRG4 neuregulin 4 gene DOID:2717 Bloom syndrome ISO RGD:1606150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11894978 NRG4 neuregulin 4 gene DOID:5419 schizophrenia ISO RGD:1606150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11894978 NRG4 neuregulin 4 gene DOID:630 genetic disease ISO RGD:1606150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11894978 NRG4 neuregulin 4 gene DOID:9256 colorectal cancer ISO RGD:1606150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11895005 DMC1 DNA meiotic recombinase 1 gene DOID:0050457 Sertoli cell-only syndrome ISO RGD:1316905 D RGD:9068941 20220825 MouseDO OMIM:305700 | OMIM:400042 11895005 DMC1 DNA meiotic recombinase 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11895005 DMC1 DNA meiotic recombinase 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1316904 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11895005 DMC1 DNA meiotic recombinase 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1316904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11895005 DMC1 DNA meiotic recombinase 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1316904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11895005 DMC1 DNA meiotic recombinase 1 gene DOID:14227 azoospermia ISO RGD:1316904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 11895005 DMC1 DNA meiotic recombinase 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1316904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11895005 DMC1 DNA meiotic recombinase 1 gene DOID:630 genetic disease ISO RGD:1316904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895040 GLT8D2 glycosyltransferase 8 domain containing 2 gene DOID:630 genetic disease ISO RGD:1353062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895040 GLT8D2 glycosyltransferase 8 domain containing 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1353062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11895070 MAT2A methionine adenosyltransferase 2A gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:737506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 11895070 MAT2A methionine adenosyltransferase 2A gene DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 ISO RGD:737506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: VITAMIN K-DEPENDENT COAGULATION DEFECT 11895070 MAT2A methionine adenosyltransferase 2A gene DOID:1324 lung cancer treatment ISO RGD:737506 D RGD:9068941 20220915 RGD human cells in mouse model PMID:34258296|REF_RGD_ID:153350142 11895070 MAT2A methionine adenosyltransferase 2A gene DOID:14004 thoracic aortic aneurysm ISO RGD:737506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:28166811|PMID:28492532|PMID:9536098 11895070 MAT2A methionine adenosyltransferase 2A gene DOID:14004 thoracic aortic aneurysm ISO RGD:737506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:28492532|PMID:9536098 11895070 MAT2A methionine adenosyltransferase 2A gene DOID:3393 coronary artery disease ISO RGD:737506 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 11895070 MAT2A methionine adenosyltransferase 2A gene DOID:630 genetic disease ISO RGD:737506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895083 NUP50 nucleoporin 50 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:736309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11895083 NUP50 nucleoporin 50 gene DOID:1059 intellectual disability ISO RGD:736309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11895083 NUP50 nucleoporin 50 gene DOID:630 genetic disease ISO RGD:736309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895104 OXGR1 oxoglutarate receptor 1 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1346637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 11895104 OXGR1 oxoglutarate receptor 1 gene DOID:630 genetic disease ISO RGD:1346637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895104 OXGR1 oxoglutarate receptor 1 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1346637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11895104 OXGR1 oxoglutarate receptor 1 gene DOID:9008821 Otitis Media with Effusion ISO RGD:1550957 D RGD:9068941 20200609 RGD PMID:23200873|REF_RGD_ID:7775025 11895112 LOC100981375 olfactory receptor 4K1 gene DOID:630 genetic disease ISO RGD:1354130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895118 UPF3B UPF3B regulator of nonsense mediated mRNA decay gene DOID:0050437 Danon disease ISO RGD:1346078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 11895118 UPF3B UPF3B regulator of nonsense mediated mRNA decay gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11895118 UPF3B UPF3B regulator of nonsense mediated mRNA decay gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1346078 D RGD:7240710 20190619 OMIM 11895118 UPF3B UPF3B regulator of nonsense mediated mRNA decay gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1346078 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:17576681|PMID:17704778|PMID:18414213|PMID:19238151|PMID:22957832|PMID:25741868|PMID:26012578|PMID:26350204|PMID:28492532|PMID:31737052|PMID:9536098 11895118 UPF3B UPF3B regulator of nonsense mediated mRNA decay gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1346078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 11895118 UPF3B UPF3B regulator of nonsense mediated mRNA decay gene DOID:1059 intellectual disability ISO RGD:1346078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11895118 UPF3B UPF3B regulator of nonsense mediated mRNA decay gene DOID:12849 autistic disorder ISO RGD:1346078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11895118 UPF3B UPF3B regulator of nonsense mediated mRNA decay gene DOID:630 genetic disease ISO RGD:1346078 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26012578|PMID:26350204|PMID:28492532 11895118 UPF3B UPF3B regulator of nonsense mediated mRNA decay gene DOID:83 cataract ISO RGD:1346078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract PMID:25741868|PMID:28492532 11895118 UPF3B UPF3B regulator of nonsense mediated mRNA decay gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11895118 UPF3B UPF3B regulator of nonsense mediated mRNA decay gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1346078 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17704778 11895135 ASPHD2 aspartate beta-hydroxylase domain containing 2 gene DOID:0110271 cataract 23 ISO RGD:1601744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 11895135 ASPHD2 aspartate beta-hydroxylase domain containing 2 gene DOID:630 genetic disease ISO RGD:1601744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895145 FBXO10 F-box protein 10 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1313507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11895145 FBXO10 F-box protein 10 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1313507 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11895145 FBXO10 F-box protein 10 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1313507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11895145 FBXO10 F-box protein 10 gene DOID:630 genetic disease ISO RGD:1313507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895145 FBXO10 F-box protein 10 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1305465 D RGD:9068941 20200609 RGD PMID:17404222|REF_RGD_ID:1601189 11895145 FBXO10 F-box protein 10 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11895145 FBXO10 F-box protein 10 gene DOID:9870 galactosemia ISO RGD:1313507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11895160 ABCC10 ATP binding cassette subfamily C member 10 gene DOID:0050444 infantile Refsum disease ISO RGD:1315462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11895160 ABCC10 ATP binding cassette subfamily C member 10 gene DOID:630 genetic disease ISO RGD:1315462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895160 ABCC10 ATP binding cassette subfamily C member 10 gene DOID:9002801 Recurrence ISO RGD:1315462 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 11895160 ABCC10 ATP binding cassette subfamily C member 10 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1315462 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 11895160 ABCC10 ATP binding cassette subfamily C member 10 gene DOID:905 Zellweger syndrome ISO RGD:1315462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11895198 NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1314685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25741868|PMID:28492532 11895198 NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 gene DOID:0080600 COVID-19 ISO RGD:1314685 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11895198 NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1314685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 11895198 NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 gene DOID:0112089 nuclear type mitochondrial complex I deficiency 11 ISO RGD:1314685 D RGD:7240710 20190315 OMIM 11895198 NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 gene DOID:0112089 nuclear type mitochondrial complex I deficiency 11 ISO RGD:1314685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 PMID:17557076|PMID:21931170|PMID:25741868|PMID:28492532 11895198 NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 gene DOID:2717 Bloom syndrome ISO RGD:1314685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11895198 NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 gene DOID:630 genetic disease ISO RGD:1314685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11895198 NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 gene DOID:9256 colorectal cancer ISO RGD:1314685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11895213 NPAP1 nuclear pore associated protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1351928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 11895213 NPAP1 nuclear pore associated protein 1 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1351928 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 11895213 NPAP1 nuclear pore associated protein 1 gene DOID:11983 Prader-Willi syndrome ISO RGD:1351928 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:25741868|PMID:28492532|PMID:28631899 11895213 NPAP1 nuclear pore associated protein 1 gene DOID:12849 autistic disorder ISO RGD:1351928 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 11895213 NPAP1 nuclear pore associated protein 1 gene DOID:1909 melanoma ISO RGD:1351928 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842228 11895213 NPAP1 nuclear pore associated protein 1 gene DOID:1932 Angelman syndrome ISO RGD:1351928 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:12210318|PMID:18821858|PMID:22190369|PMID:23495136|PMID:24088041|PMID:25099823|PMID:25212744|PMID:25884337|PMID:26633545|PMID:28492532 11895213 NPAP1 nuclear pore associated protein 1 gene DOID:5419 schizophrenia ISO RGD:1351928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11895213 NPAP1 nuclear pore associated protein 1 gene DOID:630 genetic disease ISO RGD:1351928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895213 NPAP1 nuclear pore associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11895216 ITGB4 integrin subunit beta 4 gene DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ISO RGD:733257 D RGD:7240710 20180130 OMIM 11895216 ITGB4 integrin subunit beta 4 gene DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ISO RGD:733257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia PMID:10484780|PMID:11251584|PMID:11328943|PMID:11886501|PMID:12485428|PMID:16473856|PMID:17576681|PMID:18348258|PMID:18955862|PMID:20301304|PMID:20301336|PMID:23013259|PMID:23496044|PMID:24033266|PMID:25741868|PMID:26739954|PMID:28492532|PMID:6177243|PMID:7545057|PMID:9536098|PMID:9546354|PMID:9674902|PMID:9792864|PMID:9892956 11895216 ITGB4 integrin subunit beta 4 gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISO RGD:733257 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type PMID:25741868|PMID:28492532 11895216 ITGB4 integrin subunit beta 4 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:733257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11895216 ITGB4 integrin subunit beta 4 gene DOID:1184 nephrotic syndrome ISO RGD:733257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:28492532 11895216 ITGB4 integrin subunit beta 4 gene DOID:14695 galactokinase deficiency ISO RGD:733257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of galactokinase PMID:10790206|PMID:25741868|PMID:28492532 11895216 ITGB4 integrin subunit beta 4 gene DOID:2121 ectodermal dysplasia ISO RGD:733257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18348258 11895216 ITGB4 integrin subunit beta 4 gene DOID:2661 myoepithelioma ISO RGD:733257 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11895216 ITGB4 integrin subunit beta 4 gene DOID:2730 epidermolysis bullosa ISO RGD:733257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18348258 11895216 ITGB4 integrin subunit beta 4 gene DOID:3209 junctional epidermolysis bullosa ISO RGD:733257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7545057 11895216 ITGB4 integrin subunit beta 4 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27107458 11895216 ITGB4 integrin subunit beta 4 gene DOID:630 genetic disease ISO RGD:733257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11895216 ITGB4 integrin subunit beta 4 gene DOID:9002684 Localized Epidermolysis Bullosa Simplex 1C ISO RGD:733257 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized PMID:25741868|PMID:28492532 11895216 ITGB4 integrin subunit beta 4 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:733257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11895216 ITGB4 integrin subunit beta 4 gene DOID:9003281 Spontaneous Abortions ISO RGD:733257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11895216 ITGB4 integrin subunit beta 4 gene DOID:9003431 Junctional Epidermolysis Bullosa 5A, Intermediate ISO RGD:733257 D RGD:7240710 20220608 OMIM 11895216 ITGB4 integrin subunit beta 4 gene DOID:9003431 Junctional Epidermolysis Bullosa 5A, Intermediate ISO RGD:733257 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 5A, intermediate PMID:10792571|PMID:12485428|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|PMID:9546354|PMID:9892956 11895216 ITGB4 integrin subunit beta 4 gene DOID:9007402 Gliosis ISO RGD:733257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12851778 11895216 ITGB4 integrin subunit beta 4 gene DOID:9007499 Pyloric Atresia ISO RGD:733257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18348258|PMID:7545057 11895261 RPS6KB2 ribosomal protein S6 kinase B2 gene DOID:1059 intellectual disability ISO RGD:1313003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11895261 RPS6KB2 ribosomal protein S6 kinase B2 gene DOID:630 genetic disease ISO RGD:1313003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895261 RPS6KB2 ribosomal protein S6 kinase B2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1313003 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11895261 RPS6KB2 ribosomal protein S6 kinase B2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1313003 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11895261 RPS6KB2 ribosomal protein S6 kinase B2 gene DOID:9008939 Breast Neoplasms ISO RGD:1313003 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953835 11895289 PLEKHA5 pleckstrin homology domain containing A5 gene DOID:630 genetic disease ISO RGD:1344659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895289 PLEKHA5 pleckstrin homology domain containing A5 gene DOID:9004934 BILATERAL CLEFT LIP ISO RGD:1344659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral cleft lip PMID:25741868 11895289 PLEKHA5 pleckstrin homology domain containing A5 gene DOID:9296 cleft lip ISO RGD:1344659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft lip with or without cleft palate PMID:29805042 11895326 LSAMP limbic system associated membrane protein gene DOID:630 genetic disease ISO RGD:1347242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895337 NSD3 nuclear receptor binding SET domain protein 3 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1319069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 11895337 NSD3 nuclear receptor binding SET domain protein 3 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1319069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 11895337 NSD3 nuclear receptor binding SET domain protein 3 gene DOID:607 paraplegia ISO RGD:1319069 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11895337 NSD3 nuclear receptor binding SET domain protein 3 gene DOID:630 genetic disease ISO RGD:1319069 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895337 NSD3 nuclear receptor binding SET domain protein 3 gene DOID:8692 myeloid leukemia ISO RGD:1319069 D RGD:9068941 20200609 RGD PMID:11986249|REF_RGD_ID:1599847 11895378 LRRTM1 leucine rich repeat transmembrane neuronal 1 gene DOID:5419 schizophrenia ISO RGD:1622254 D RGD:9068941 20220825 MouseDO OMIM:181500 11895378 LRRTM1 leucine rich repeat transmembrane neuronal 1 gene DOID:630 genetic disease ISO RGD:1351021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895388 TRPC4 transient receptor potential cation channel subfamily C member 4 gene DOID:10283 prostate cancer ISO RGD:733150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11895388 TRPC4 transient receptor potential cation channel subfamily C member 4 gene DOID:1324 lung cancer susceptibility ISO RGD:733150 D RGD:9068941 20220616 RGD DNA:SNPs:: (rs9547991, rs978156) (human) PMID:27617218|REF_RGD_ID:152995362 11895388 TRPC4 transient receptor potential cation channel subfamily C member 4 gene DOID:630 genetic disease ISO RGD:733150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895388 TRPC4 transient receptor potential cation channel subfamily C member 4 gene DOID:9001820 Pulmonary Arterial Hypertension ameliorates ISO XCO:0000010|XCO:0000922 D RGD:9068941 20220210 RGD PMID:24113457|REF_RGD_ID:150429956 11895388 TRPC4 transient receptor potential cation channel subfamily C member 4 gene DOID:9008820 Visceral Pain ISO RGD:621276 D RGD:9068941 20200609 RGD PMID:24388923|REF_RGD_ID:13825245 11895420 DOC2B double C2 domain beta gene DOID:630 genetic disease ISO RGD:732162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895437 EPS15L1 epidermal growth factor receptor pathway substrate 15 like 1 gene DOID:630 genetic disease ISO RGD:1345399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895480 TBL1XR1 TBL1X/Y related 1 gene DOID:0070071 autosomal dominant intellectual developmental disorder 41 ISO RGD:1348910 D RGD:7240710 20190315 OMIM 11895480 TBL1XR1 TBL1X/Y related 1 gene DOID:0070071 autosomal dominant intellectual developmental disorder 41 ISO RGD:1348910 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 41 | ClinVar Annotator: match by term: TBL1XR1-Related Disorder PMID:18414213|PMID:19760657|PMID:22495309|PMID:23160955|PMID:25102098|PMID:25741868|PMID:27133561|PMID:28492532|PMID:28574232|PMID:30365874|PMID:32901917|PMID:33527360 11895480 TBL1XR1 TBL1X/Y related 1 gene DOID:1059 intellectual disability ISO RGD:1348910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26740553|PMID:29777588 11895480 TBL1XR1 TBL1X/Y related 1 gene DOID:1790 malignant mesothelioma ISO RGD:1348910 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 11895480 TBL1XR1 TBL1X/Y related 1 gene DOID:630 genetic disease ISO RGD:1348910 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10322433|PMID:16893456|PMID:25102098|PMID:25741868|PMID:26467025|PMID:26740553|PMID:26769062|PMID:28492532|PMID:29777588 11895480 TBL1XR1 TBL1X/Y related 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 11895480 TBL1XR1 TBL1X/Y related 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11895480 TBL1XR1 TBL1X/Y related 1 gene DOID:9007450 Pierpont Syndrome ISO RGD:1348910 D RGD:7240710 20190315 OMIM 11895480 TBL1XR1 TBL1X/Y related 1 gene DOID:9007450 Pierpont Syndrome ISO RGD:1348910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pierpont syndrome | ClinVar Annotator: match by term: TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome PMID:16199547|PMID:17576681|PMID:18414213|PMID:19760657|PMID:23160955|PMID:25102098|PMID:25741868|PMID:26467025|PMID:26740553|PMID:26769062|PMID:27133561|PMID:27824329|PMID:28492532|PMID:28562391|PMID:28574232|PMID:28588275|PMID:30365874|PMID:30577886|PMID:31394400|PMID:31618753|PMID:32369273|PMID:35165208|PMID:9450851|PMID:9536098 11895517 FHL3 four and a half LIM domains 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1316216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11895517 FHL3 four and a half LIM domains 3 gene DOID:630 genetic disease ISO RGD:1316216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895517 FHL3 four and a half LIM domains 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 11895529 TMEM45B transmembrane protein 45B gene DOID:0111723 Jacobsen Syndrome ISO RGD:1348060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11895529 TMEM45B transmembrane protein 45B gene DOID:5419 schizophrenia ISO RGD:1348060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11895529 TMEM45B transmembrane protein 45B gene DOID:630 genetic disease ISO RGD:1348060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895529 TMEM45B transmembrane protein 45B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1348060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11895529 TMEM45B transmembrane protein 45B gene DOID:9007661 Dwarfism ISO RGD:1348060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11895580 FOXM1 forkhead box M1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1604404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:13679865 11895580 FOXM1 forkhead box M1 gene DOID:10534 stomach cancer severity ISO RGD:1604404 D RGD:9068941 20220217 RGD protein:increased expression:stomach (human) PMID:25482013|REF_RGD_ID:151356929 11895580 FOXM1 forkhead box M1 gene DOID:11714 gestational diabetes ISO RGD:62099 D RGD:9068941 20200609 RGD PMID:19833884|REF_RGD_ID:2315927 11895580 FOXM1 forkhead box M1 gene DOID:1240 leukemia ISO RGD:1604404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19436953 11895580 FOXM1 forkhead box M1 gene DOID:1324 lung cancer ISO RGD:62099 D RGD:9068941 20220825 MouseDO OMIM:211980 | OMIM:608935 | OMIM:612571 | OMIM:612593 | OMIM:614210 11895580 FOXM1 forkhead box M1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1604404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 11895580 FOXM1 forkhead box M1 gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:1604404 D RGD:9068941 20230225 RGD PMID:24859161|REF_RGD_ID:156430321 11895580 FOXM1 forkhead box M1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1604404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18345025|PMID:19672312 11895580 FOXM1 forkhead box M1 gene DOID:630 genetic disease ISO RGD:1604404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895580 FOXM1 forkhead box M1 gene DOID:684 hepatocellular carcinoma ISO RGD:1604404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15082532|PMID:17173139|PMID:28284560 11895580 FOXM1 forkhead box M1 gene DOID:684 hepatocellular carcinoma ISO RGD:62099 D RGD:9068941 20220825 MouseDO OMIM:114550 11895580 FOXM1 forkhead box M1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1604404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15082532 11895580 FOXM1 forkhead box M1 gene DOID:9005172 Lung Neoplasms ISO RGD:1604404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16489016|PMID:23255470 11895580 FOXM1 forkhead box M1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1604404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11895580 FOXM1 forkhead box M1 gene DOID:9008939 Breast Neoplasms ISO RGD:1604404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20208560 11895580 FOXM1 forkhead box M1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:62099 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 11895602 SIGIRR single Ig and TIR domain containing gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11895602 SIGIRR single Ig and TIR domain containing gene DOID:0080600 COVID-19 ISO RGD:1604804 D RGD:9068941 20200702 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11895602 SIGIRR single Ig and TIR domain containing gene DOID:0111969 immunodeficiency 39 ISO RGD:1604804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11895602 SIGIRR single Ig and TIR domain containing gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11895602 SIGIRR single Ig and TIR domain containing gene DOID:630 genetic disease ISO RGD:1604804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895619 PREPL prolyl endopeptidase like gene DOID:0060858 hypotonia-cystinuria syndrome ISO RGD:1606027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 11895619 PREPL prolyl endopeptidase like gene DOID:0080587 congenital myasthenic syndrome 22 ISO RGD:1606027 D RGD:7240710 20190315 OMIM 11895619 PREPL prolyl endopeptidase like gene DOID:0080587 congenital myasthenic syndrome 22 ISO RGD:1606027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 22 PMID:10737983|PMID:16199547|PMID:17576681|PMID:19782624|PMID:22796000|PMID:24033266|PMID:24610330|PMID:25741868|PMID:28492532|PMID:28726805|PMID:29483676|PMID:29913539|PMID:32707643|PMID:32860008|PMID:33233562|PMID:9536098 11895619 PREPL prolyl endopeptidase like gene DOID:1059 intellectual disability ISO RGD:1606027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11895619 PREPL prolyl endopeptidase like gene DOID:3635 congenital myasthenic syndrome ISO RGD:1606027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11895619 PREPL prolyl endopeptidase like gene DOID:3883 Lynch syndrome ISO RGD:1606027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11895619 PREPL prolyl endopeptidase like gene DOID:5426 primary ovarian insufficiency ISO RGD:1606027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 11895619 PREPL prolyl endopeptidase like gene DOID:630 genetic disease ISO RGD:1606027 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11895619 PREPL prolyl endopeptidase like gene DOID:9266 cystinuria ISO RGD:1606027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cystinuria PMID:10620184|PMID:10737983|PMID:11260385|PMID:11524703|PMID:11748844|PMID:12820697|PMID:14531788|PMID:15635077|PMID:16374432|PMID:18234729|PMID:19782624|PMID:20517292|PMID:21677404|PMID:22493502|PMID:22796000|PMID:23532419|PMID:24033266|PMID:24610330|PMID:25109415|PMID:25640679|PMID:25741868|PMID:25964309|PMID:26537754|PMID:28492532|PMID:28646536|PMID:28717662|PMID:30773290|PMID:32133030|PMID:33349102|PMID:7573036|PMID:8054986|PMID:8792820|PMID:9768685 11895656 CCDC60 coiled-coil domain containing 60 gene DOID:630 genetic disease ISO RGD:1602176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895693 RPL26 ribosomal protein L26 gene DOID:0111892 Diamond-Blackfan anemia 11 ISO RGD:1321610 D RGD:7240710 20180130 OMIM 11895693 RPL26 ribosomal protein L26 gene DOID:0111892 Diamond-Blackfan anemia 11 ISO RGD:1321610 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 11 PMID:22431104|PMID:25741868|PMID:28492532 11895693 RPL26 ribosomal protein L26 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1321610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22431104|PMID:23172776|PMID:25741868|PMID:28492532 11895693 RPL26 ribosomal protein L26 gene DOID:2729 dyskeratosis congenita ISO RGD:1321610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11895693 RPL26 ribosomal protein L26 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1321610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 11895712 EBPL EBP like gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1312086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11895712 EBPL EBP like gene DOID:1059 intellectual disability ISO RGD:1312086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11895712 EBPL EBP like gene DOID:630 genetic disease ISO RGD:1312086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895720 ALKBH8 alkB homolog 8, tRNA methyltransferase gene DOID:0081232 autosomal recessive intellectual developmental disorder 71 ISO RGD:1602194 D RGD:7240710 20190911 OMIM 11895720 ALKBH8 alkB homolog 8, tRNA methyltransferase gene DOID:0081232 autosomal recessive intellectual developmental disorder 71 ISO RGD:1602194 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 71 PMID:25741868|PMID:28492532|PMID:31079898|PMID:33544954 11895720 ALKBH8 alkB homolog 8, tRNA methyltransferase gene DOID:1059 intellectual disability ISO RGD:1602194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11895720 ALKBH8 alkB homolog 8, tRNA methyltransferase gene DOID:12704 ataxia telangiectasia ISO RGD:1602194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11895720 ALKBH8 alkB homolog 8, tRNA methyltransferase gene DOID:630 genetic disease ISO RGD:1602194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895720 ALKBH8 alkB homolog 8, tRNA methyltransferase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1602194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11895720 ALKBH8 alkB homolog 8, tRNA methyltransferase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1602194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 11895720 ALKBH8 alkB homolog 8, tRNA methyltransferase gene DOID:9008939 Breast Neoplasms ISO RGD:1602194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 11895744 EOMES eomesodermin gene DOID:11054 urinary bladder cancer ISO RGD:1353316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 11895744 EOMES eomesodermin gene DOID:2030 anxiety disorder ISO RGD:1353316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26415720 11895744 EOMES eomesodermin gene DOID:438 autoimmune disease of the nervous system ISO RGD:1353316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27742544 11895744 EOMES eomesodermin gene DOID:630 genetic disease ISO RGD:1353316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895744 EOMES eomesodermin gene DOID:9002928 Colonic Neoplasms ISO RGD:1353316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27539959 11895744 EOMES eomesodermin gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1353316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 11895754 TSEN15 tRNA splicing endonuclease subunit 15 gene DOID:0112329 pontocerebellar hypoplasia type 2F ISO RGD:1318440 D RGD:7240710 20190315 OMIM 11895754 TSEN15 tRNA splicing endonuclease subunit 15 gene DOID:0112329 pontocerebellar hypoplasia type 2F ISO RGD:1318440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 2F PMID:25558065|PMID:25741868|PMID:27392077 11895754 TSEN15 tRNA splicing endonuclease subunit 15 gene DOID:1540 parathyroid carcinoma ISO RGD:1318440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11895754 TSEN15 tRNA splicing endonuclease subunit 15 gene DOID:630 genetic disease ISO RGD:1318440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895754 TSEN15 tRNA splicing endonuclease subunit 15 gene DOID:9008086 Developmental Disabilities ISO RGD:1318440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065|PMID:27392077 11895754 TSEN15 tRNA splicing endonuclease subunit 15 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11895770 CADM1 cell adhesion molecule 1 gene DOID:10283 prostate cancer ISO RGD:1322220 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:12079507|REF_RGD_ID:2289091 11895770 CADM1 cell adhesion molecule 1 gene DOID:1059 intellectual disability ISO RGD:1322220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11895770 CADM1 cell adhesion molecule 1 gene DOID:12849 autistic disorder ISO RGD:1322220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18957284 11895770 CADM1 cell adhesion molecule 1 gene DOID:1596 depressive disorder ISO RGD:1322220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22113448 11895770 CADM1 cell adhesion molecule 1 gene DOID:3459 breast carcinoma severity ISO RGD:1322220 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:17260099|REF_RGD_ID:2289088 11895770 CADM1 cell adhesion molecule 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1310999 D RGD:9068941 20200609 RGD DNA, mRNA:hypermethylation, decreased expression:promoter:liver PMID:16814249|REF_RGD_ID:2289096 11895770 CADM1 cell adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:1322220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895770 CADM1 cell adhesion molecule 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1310999 D RGD:9068941 20200609 RGD DNA, mRNA, protein:hypermethylation, decreased expression:promoter:liver PMID:17428255|REF_RGD_ID:2289095 11895770 CADM1 cell adhesion molecule 1 gene DOID:700 mitochondrial metabolism disease ISO RGD:1322220 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30673822 11895770 CADM1 cell adhesion molecule 1 gene DOID:8991 cervix uteri carcinoma in situ severity ISO RGD:1322220 D RGD:9068941 20200609 RGD PMID:17009984|REF_RGD_ID:2289089 11895770 CADM1 cell adhesion molecule 1 gene DOID:9002762 Ovarian Neoplasms severity ISO RGD:1322220 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:16532039|REF_RGD_ID:2296030 11895770 CADM1 cell adhesion molecule 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1322220 D RGD:9068941 20200609 RGD DNA, mRNA:hypermethylation, decreased expression:cervix PMID:15589594|REF_RGD_ID:2289090 11895770 CADM1 cell adhesion molecule 1 gene DOID:9003373 Uterine Cervical Neoplasms severity ISO RGD:1322220 D RGD:9068941 20200609 RGD PMID:17009984|REF_RGD_ID:2289089 11895770 CADM1 cell adhesion molecule 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11895770 CADM1 cell adhesion molecule 1 gene DOID:9007661 Dwarfism ISO RGD:1322220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11895770 CADM1 cell adhesion molecule 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1322220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17260099 11895790 KIF5B kinesin family member 5B gene DOID:1059 intellectual disability ISO RGD:1344841 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 11895790 KIF5B kinesin family member 5B gene DOID:3908 lung non-small cell carcinoma ISO RGD:1344841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21757253 11895790 KIF5B kinesin family member 5B gene DOID:630 genetic disease ISO RGD:1344841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895790 KIF5B kinesin family member 5B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621559 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:23776493|REF_RGD_ID:11059542 11895790 KIF5B kinesin family member 5B gene DOID:9008086 Developmental Disabilities ISO RGD:1344841 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11895790 KIF5B kinesin family member 5B gene DOID:9351 diabetes mellitus ISO RGD:1344841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23776493 11895841 CFAP221 cilia and flagella associated protein 221 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1606685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:31636325 11895883 EPHB2 EPH receptor B2 gene DOID:0060673 Peters anomaly ISO RGD:1605126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:26893459 11895883 EPHB2 EPH receptor B2 gene DOID:0080600 COVID-19 ISO RGD:1605126 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11895883 EPHB2 EPH receptor B2 gene DOID:10127 cerebral artery occlusion ameliorates ISO RGD:1617631 D RGD:9068941 20210625 RGD PMID:18639535|REF_RGD_ID:127285624 11895883 EPHB2 EPH receptor B2 gene DOID:10652 Alzheimer's disease ameliorates ISO RGD:1617631 D RGD:9068941 20210625 RGD PMID:21113149|REF_RGD_ID:12859080 11895883 EPHB2 EPH receptor B2 gene DOID:12365 malaria ISO RGD:1617631 D RGD:9068941 20210625 RGD mRNA:increased expression:liver PMID:25784101|REF_RGD_ID:127285023 11895883 EPHB2 EPH receptor B2 gene DOID:1561 cognitive disorder ISO RGD:1605126 D RGD:9068941 20210625 RGD associated with human immunodeficiency virus infectious disease; mRNA:increased expression:Anterior cingulate PMID:23314923|REF_RGD_ID:127285026 11895883 EPHB2 EPH receptor B2 gene DOID:3525 middle cerebral artery infarction ISO RGD:1564232 D RGD:9068941 20210625 RGD mRNA,protein:increased expression: cortex, cerebral cortex subventricular zone PMID:16321245|REF_RGD_ID:1642069 11895883 EPHB2 EPH receptor B2 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1617631 D RGD:9068941 20210625 RGD PMID:16321245|REF_RGD_ID:1642069 11895883 EPHB2 EPH receptor B2 gene DOID:5082 liver cirrhosis ameliorates ISO RGD:1617631 D RGD:9068941 20210625 RGD associated with malaria; PMID:25784101|REF_RGD_ID:127285023 11895883 EPHB2 EPH receptor B2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1605126 D RGD:9068941 20210625 RGD mRNA:decreased expression:Anterior cingulate PMID:23314923|REF_RGD_ID:127285026 11895883 EPHB2 EPH receptor B2 gene DOID:630 genetic disease ISO RGD:1605126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895883 EPHB2 EPH receptor B2 gene DOID:8577 ulcerative colitis ameliorates ISO RGD:1564232 D RGD:9068941 20210625 RGD PMID:33722292|REF_RGD_ID:127285641 11895883 EPHB2 EPH receptor B2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1564232 D RGD:9068941 20210702 RGD PMID:12944508|REF_RGD_ID:127285804 11895883 EPHB2 EPH receptor B2 gene DOID:9000039 Spinal Cord Injuries ameliorates ISO RGD:1564232 D RGD:9068941 20210625 RGD PMID:33794069|REF_RGD_ID:127285659 11895883 EPHB2 EPH receptor B2 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:1564232 D RGD:9068941 20210625 RGD mRNA,protein:increased expression:dorsal root ganglion PMID:32149862|REF_RGD_ID:127285658 11895883 EPHB2 EPH receptor B2 gene DOID:9001471 Anorectal Malformations ISO RGD:1564232 D RGD:9068941 20210625 RGD mRNA,protein:decreased expression:embryonic cloaca, urorectal septum PMID:19302865|REF_RGD_ID:127285623 11895883 EPHB2 EPH receptor B2 gene DOID:9004298 Prostate Cancer/Brain Cancer Susceptibility ISO RGD:1605126 D RGD:7240710 20230517 OMIM 11895883 EPHB2 EPH receptor B2 gene DOID:9004298 Prostate Cancer/Brain Cancer Susceptibility ISO RGD:1605126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate cancer/brain cancer susceptibility PMID:15300251|PMID:16155194|PMID:25741868|PMID:28492532 11895883 EPHB2 EPH receptor B2 gene DOID:9005834 Ependymomas ISO RGD:1605126 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075792 11895883 EPHB2 EPH receptor B2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1605126 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11895883 EPHB2 EPH receptor B2 gene DOID:9007718 Platelet-Type Bleeding Disorder 22 ISO RGD:1605126 D RGD:7240710 20230517 OMIM 11895883 EPHB2 EPH receptor B2 gene DOID:9007718 Platelet-Type Bleeding Disorder 22 ISO RGD:1605126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 22 PMID:30213874 11895883 EPHB2 EPH receptor B2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1605126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:18682749 11895883 EPHB2 EPH receptor B2 gene DOID:9008452 Candidemia exacerbates ISO RGD:1617631 D RGD:9068941 20210604 RGD PMID:33685996|REF_RGD_ID:127229905 11895883 EPHB2 EPH receptor B2 gene DOID:9008820 Visceral Pain ameliorates ISO RGD:1617631 D RGD:9068941 20210625 RGD PMID:33880135|REF_RGD_ID:127285657 11895883 EPHB2 EPH receptor B2 gene DOID:9778 irritable bowel syndrome ISO RGD:1564232 D RGD:9068941 20210604 RGD associated with trichuriasis;protein:increased expression:colonic muscularis: PMID:31601124|REF_RGD_ID:127229906 11895883 EPHB2 EPH receptor B2 gene DOID:9778 irritable bowel syndrome ameliorates ISO RGD:1564232 D RGD:9068941 20210604 RGD PMID:31601124|REF_RGD_ID:127229906 11895916 FAM199X family with sequence similarity 199, X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11895916 FAM199X family with sequence similarity 199, X-linked gene DOID:12849 autistic disorder ISO RGD:1348985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11895916 FAM199X family with sequence similarity 199, X-linked gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1348985 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:1720927|PMID:9633722|PMID:9634530 11895916 FAM199X family with sequence similarity 199, X-linked gene DOID:630 genetic disease ISO RGD:1348985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895928 SLC35A3 solute carrier family 35 member A3 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1318491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868|PMID:28492532 11895928 SLC35A3 solute carrier family 35 member A3 gene DOID:630 genetic disease ISO RGD:1318491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24031089|PMID:25954003|PMID:27618451|PMID:28328131|PMID:28490743|PMID:28492532 11895928 SLC35A3 solute carrier family 35 member A3 gene DOID:9008858 Arthrogryposis, Impaired Intellectual Development, and Seizures ISO RGD:1318491 D RGD:7240710 20180130 OMIM 11895928 SLC35A3 solute carrier family 35 member A3 gene DOID:9008858 Arthrogryposis, Impaired Intellectual Development, and Seizures ISO RGD:1318491 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder - epilepsy - arthrogryposis syndrome PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:24031089|PMID:25741868|PMID:25954003|PMID:27618451|PMID:28328131|PMID:28490743|PMID:28492532|PMID:28777481|PMID:33416188|PMID:9536098 11895928 SLC35A3 solute carrier family 35 member A3 gene DOID:9269 maple syrup urine disease ISO RGD:1318491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 11895944 KRT36 keratin 36 gene DOID:630 genetic disease ISO RGD:1314039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:0050771 pheochromocytoma ISO RGD:1345704 D RGD:7240710 20180130 OMIM 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:0050771 pheochromocytoma ISO RGD:1345704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15479192|PMID:15623805|PMID:16080474|PMID:16314641|PMID:16317055|PMID:17102085|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17973943|PMID:18414213|PMID:18551016|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23083876|PMID:23175444|PMID:23433498|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25494863|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27634942|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28492532|PMID:28873162|PMID:28977582|PMID:29386252|PMID:29545045|PMID:29792313|PMID:30050099|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30877234|PMID:30951038|PMID:31194233|PMID:32035780|PMID:32741965|PMID:33748650|PMID:34012134|PMID:34906457|PMID:9536098|PMID:9683583 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:0050773 paraganglioma ISO RGD:1345704 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12811540|PMID:14557476|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15479192|PMID:15531530|PMID:15623805|PMID:16080474|PMID:16317055|PMID:17102085|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17667967|PMID:17804857|PMID:17973943|PMID:18551016|PMID:18678321|PMID:18692411|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20111059|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22241717|PMID:22290790|PMID:22382802|PMID:22456618|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23433498|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25494863|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:26008905|PMID:26096992|PMID:26467025|PMID:27153395|PMID:27279923|PMID:28128698|PMID:28164237|PMID:28492532|PMID:28873162|PMID:29386252|PMID:30273935|PMID:30484866|PMID:32035780|PMID:34012134|PMID:34906457|PMID:9683583 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:0050773 paraganglioma ISO RGD:1345704 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12218630|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15479192|PMID:15531530|PMID:15623805|PMID:16080474|PMID:16317055|PMID:17102085|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17973943|PMID:18551016|PMID:18678321|PMID:18692411|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20111059|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22382802|PMID:22456618|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23083876|PMID:23175444|PMID:23433498|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25494863|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27634942|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28492532|PMID:28873162|PMID:28977582|PMID:29386252|PMID:29545045|PMID:29777207|PMID:29792313|PMID:30050099|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31194241|PMID:32035780|PMID:32741965|PMID:33748650|PMID:34906457|PMID:9536098|PMID:9683583 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:0060537 mitochondrial complex II deficiency ISO RGD:1345704 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mitochondrial complex II deficiency | ClinVar Annotator: match by term: Succinate CoQ reductase deficiency PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11897817|PMID:12811540|PMID:15479192|PMID:17102085|PMID:19454582|PMID:20301715|PMID:21348866|PMID:21937622|PMID:22241717|PMID:22290790|PMID:23175444|PMID:23433498|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24367056|PMID:24436918|PMID:24758185|PMID:25014000|PMID:25326637|PMID:25494863|PMID:25695889|PMID:25741868|PMID:28492532|PMID:30050099|PMID:30375904|PMID:30484866|PMID:30951038|PMID:31194233|PMID:32741965|PMID:33748650|PMID:34012134 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1345704 D RGD:7240710 20180130 OMIM 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1345704 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome | ClinVar Annotator: match by term: Paraganglioma and gastric stromal sarcoma | ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12218630|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15531530|PMID:15623805|PMID:15905695|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18213727|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19584903|PMID:19802898|PMID:19825962|PMID:19936639|PMID:20098451|PMID:20111059|PMID:20208144|PMID:20301715|PMID:20418362|PMID:20842377|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22382802|PMID:22456618|PMID:22517554|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24735130|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25376524|PMID:25494863|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27634942|PMID:27785149|PMID:27986441|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28492532|PMID:28748451|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29510530|PMID:29545045|PMID:29625052|PMID:29777207|PMID:29792313|PMID:29875428|PMID:29925701|PMID:30050099|PMID:30093976|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30548481|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31212687|PMID:31492822|PMID:31666924|PMID:32035780|PMID:32741965|PMID:32948182|PMID:33219105|PMID:33362715|PMID:33397040|PMID:33745191|PMID:33748650|PMID:34012134|PMID:34439168|PMID:34906457|PMID:9536098|PMID:9683583 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:0080600 COVID-19 ISO RGD:1345704 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1345704 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:1345704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:28492532 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:0111479 combined oxidative phosphorylation deficiency 8 ISO RGD:1345704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fatal infantile mitochondrial cardiomyopathy PMID:26008905 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:1059 intellectual disability ISO RGD:1345704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:10907 microcephaly ISO RGD:1345704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:12704 ataxia telangiectasia ISO RGD:1345704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:1909 melanoma ISO RGD:1345704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25261935 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:630 genetic disease ISO RGD:1345704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21318381|PMID:22041456|PMID:22138625 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:9002162 Carotid Body Tumor ISO RGD:1345704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carotid body paraganglioma PMID:11391796|PMID:15066320|PMID:17576205|PMID:19351833|PMID:19454582|PMID:21945342|PMID:22241717|PMID:28492532 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:9002199 Paragangliomas 1 ISO RGD:1345704 D RGD:7240710 20190130 OMIM 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:9002199 Paragangliomas 1 ISO RGD:1345704 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Paragangliomas 1 PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12696072|PMID:12782822|PMID:12811540|PMID:14557476|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15479192|PMID:15531530|PMID:15623805|PMID:15905695|PMID:16080474|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18213727|PMID:18414213|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:19550080|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20098451|PMID:20208144|PMID:20301715|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21822798|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23433498|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24436918|PMID:24728327|PMID:24735130|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25494863|PMID:25694510|PMID:25695889|PMID:25741868|PMID:25791839|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28255624|PMID:28492532|PMID:28873162|PMID:29386252|PMID:29792313|PMID:29925701|PMID:30050099|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30951038|PMID:31194233|PMID:31212687|PMID:32035780|PMID:32741965|PMID:33362715|PMID:33397040|PMID:33748650|PMID:9683583 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:9002449 Glomus Jugulare Tumor ISO RGD:1345704 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Glomus tumors familial 1 PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12696072|PMID:12782822|PMID:12811540|PMID:14557476|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15479192|PMID:15623805|PMID:16080474|PMID:16317055|PMID:17102085|PMID:17406045|PMID:17563904|PMID:17576205|PMID:18678321|PMID:18692411|PMID:19258401|PMID:19351833|PMID:19454582|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20301715|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23433498|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25494863|PMID:25694510|PMID:25695889|PMID:25741868|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27153395|PMID:27279923|PMID:28128698|PMID:28164237|PMID:28492532|PMID:28873162|PMID:29386252|PMID:29792313|PMID:30050099|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30951038|PMID:31194233|PMID:32035780|PMID:32741965|PMID:33748650|PMID:9683583 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:9003007 Mitochondrial Complex II Deficiency Nuclear Type 3 ISO RGD:1345704 D RGD:7240710 20210203 OMIM 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:9003007 Mitochondrial Complex II Deficiency Nuclear Type 3 ISO RGD:1345704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3 PMID:10657297|PMID:11156372|PMID:11526495|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12386824|PMID:15032977|PMID:18678321|PMID:21565294|PMID:21979946|PMID:22584711|PMID:22703879|PMID:23175444|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24367056|PMID:24728327|PMID:24886695|PMID:25149476|PMID:25741868|PMID:26008905|PMID:26467025|PMID:27153395|PMID:28492532|PMID:34012134 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:9003055 Mitochondrial Complex II Deficiency Nuclear Type 1 ISO RGD:1345704 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11897817|PMID:12811540|PMID:15479192|PMID:17102085|PMID:19454582|PMID:20301715|PMID:21348866|PMID:21937622|PMID:22241717|PMID:22290790|PMID:23175444|PMID:23433498|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24367056|PMID:24436918|PMID:24758185|PMID:25014000|PMID:25326637|PMID:25494863|PMID:25695889|PMID:25741868|PMID:28492532|PMID:30050099|PMID:30375904|PMID:30484866|PMID:30951038|PMID:31194233|PMID:32741965|PMID:33748650|PMID:34012134 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:9003626 Paragangliomas 3 ISO RGD:1345704 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal PMID:10657297|PMID:11391798|PMID:12000816|PMID:12114404|PMID:19584903|PMID:20301715|PMID:21348866|PMID:25300370|PMID:25741868|PMID:26008905|PMID:28492532|PMID:9683583 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:9004109 Intestinal Carcinoid Tumors ISO RGD:1345704 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoid tumors, intestinal PMID:12007193|PMID:12111639|PMID:12386824|PMID:12696072|PMID:14557476|PMID:15623805|PMID:18678321|PMID:21565294|PMID:21979946|PMID:22703879|PMID:23175444|PMID:24728327|PMID:25149476|PMID:25694510|PMID:25695889|PMID:25741868|PMID:26467025|PMID:27279923|PMID:28128698|PMID:28164237|PMID:28492532|PMID:29386252|PMID:29792313 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:1345704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15479192|PMID:15623805|PMID:16080474|PMID:16317055|PMID:17102085|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17973943|PMID:18551016|PMID:18678321|PMID:18692411|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23083876|PMID:23175444|PMID:23433498|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25494863|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27634942|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28492532|PMID:28873162|PMID:28977582|PMID:29386252|PMID:29545045|PMID:29792313|PMID:30050099|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30877234|PMID:30951038|PMID:31194233|PMID:32035780|PMID:32741965|PMID:33748650|PMID:34012134|PMID:34906457|PMID:9536098|PMID:9683583 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:1345704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11897817|PMID:12000816|PMID:12114404|PMID:12218630|PMID:12509798|PMID:12782822|PMID:12807974|PMID:12811540|PMID:15066320|PMID:15328326|PMID:15479192|PMID:15531530|PMID:16080474|PMID:16317055|PMID:17102085|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17973943|PMID:18551016|PMID:18692411|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20111059|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21792967|PMID:21937622|PMID:21945342|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22382802|PMID:22456618|PMID:22566194|PMID:22829200|PMID:23083876|PMID:23175444|PMID:23433498|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24367056|PMID:24436918|PMID:24758185|PMID:25014000|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25494863|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27279923|PMID:27634942|PMID:28179334|PMID:28492532|PMID:28873162|PMID:28977582|PMID:29386252|PMID:29545045|PMID:29777207|PMID:30050099|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31194241|PMID:32035780|PMID:32741965|PMID:33748650|PMID:34906457|PMID:9536098|PMID:9683583 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:9006360 Paragangliomas with Sensorineural Hearing Loss ISO RGD:1345704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paragangliomas 1 with sensorineural hearing loss | ClinVar Annotator: match by term: Paragangliomas with sensorineural hearing loss PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15479192|PMID:15623805|PMID:16080474|PMID:16317055|PMID:17102085|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17973943|PMID:18551016|PMID:18678321|PMID:18692411|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23083876|PMID:23175444|PMID:23433498|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25494863|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27634942|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28492532|PMID:28873162|PMID:28977582|PMID:29386252|PMID:29545045|PMID:29792313|PMID:30050099|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30877234|PMID:30951038|PMID:31194233|PMID:32035780|PMID:32741965|PMID:33748650|PMID:34012134|PMID:34906457|PMID:9536098|PMID:9683583 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345704 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12386824|PMID:12612654|PMID:12696072|PMID:12782822|PMID:12811540|PMID:14557476|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20098451|PMID:20208144|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24859990|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25376524|PMID:25494863|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28492532|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29925701|PMID:30093976|PMID:30172768|PMID:30273935|PMID:30484866|PMID:30877234|PMID:31666924|PMID:32035780|PMID:9683583 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345704 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12612654|PMID:12696072|PMID:12782822|PMID:12811540|PMID:14557476|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20098451|PMID:20208144|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24859990|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25376524|PMID:25494863|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28492532|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29925701|PMID:30093976|PMID:30172768|PMID:30273935|PMID:30484866|PMID:30877234|PMID:31666924|PMID:32035780|PMID:34906457|PMID:9683583 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345704 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12218630|PMID:12386824|PMID:12509798|PMID:12612654|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15905695|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18213727|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:19825962|PMID:19936639|PMID:20098451|PMID:20208144|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21822798|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24735130|PMID:24758185|PMID:24859990|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25376524|PMID:25494863|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27634942|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28255624|PMID:28492532|PMID:28748451|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29545045|PMID:29625052|PMID:29777207|PMID:29925701|PMID:30050099|PMID:30093976|PMID:30172768|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30548481|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31194241|PMID:31212687|PMID:31666924|PMID:32035780|PMID:32741965|PMID:32948182|PMID:33362715|PMID:33397040|PMID:33745191|PMID:33748650|PMID:34012134|PMID:34439168|PMID:34906457|PMID:9536098|PMID:9683583 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345704 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12218630|PMID:12386824|PMID:12509798|PMID:12612654|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15905695|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18213727|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:19825962|PMID:19936639|PMID:20098451|PMID:20208144|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21822798|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24735130|PMID:24758185|PMID:24859990|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25376524|PMID:25494863|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27634942|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28255624|PMID:28492532|PMID:28748451|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29545045|PMID:29625052|PMID:29777207|PMID:29792313|PMID:29925701|PMID:30050099|PMID:30093976|PMID:30172768|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30548481|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31194241|PMID:31212687|PMID:31666924|PMID:32035780|PMID:32741965|PMID:32948182|PMID:33362715|PMID:33397040|PMID:33745191|PMID:33748650|PMID:34012134|PMID:34439168|PMID:34906457|PMID:9536098|PMID:9683583 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345704 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12218630|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15905695|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18213727|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:19825962|PMID:19936639|PMID:20098451|PMID:20208144|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21822798|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24735130|PMID:24758185|PMID:24859990|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25376524|PMID:25494863|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27634942|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28255624|PMID:28492532|PMID:28748451|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29510530|PMID:29545045|PMID:29625052|PMID:29777207|PMID:29792313|PMID:29875428|PMID:29925701|PMID:30050099|PMID:30093976|PMID:30172768|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30548481|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31194241|PMID:31212687|PMID:31492822|PMID:31666924|PMID:32035780|PMID:32741965|PMID:32948182|PMID:33219105|PMID:33362715|PMID:33397040|PMID:33745191|PMID:33748650|PMID:34012134|PMID:34439168|PMID:34906457|PMID:9536098|PMID:9683583 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:9008037 Paragangliomas 4 ISO RGD:1345704 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Paragangliomas 4 PMID:10657297|PMID:11391798|PMID:12000816|PMID:12114404|PMID:19584903|PMID:20301715|PMID:21348866|PMID:25300370|PMID:25741868|PMID:26008905|PMID:28492532|PMID:9683583 11895958 SDHD succinate dehydrogenase complex subunit D gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1345704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 11895970 WSB1 WD repeat and SOCS box containing 1 gene DOID:630 genetic disease ISO RGD:1317261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895989 ZNF22 zinc finger protein 22 gene DOID:630 genetic disease ISO RGD:1318379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11895995 EDC3 enhancer of mRNA decapping 3 gene DOID:0081213 autosomal recessive intellectual developmental disorder 50 ISO RGD:1604794 D RGD:7240710 20180130 OMIM 11895995 EDC3 enhancer of mRNA decapping 3 gene DOID:0081213 autosomal recessive intellectual developmental disorder 50 ISO RGD:1604794 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 50 PMID:25701870|PMID:25741868 11895995 EDC3 enhancer of mRNA decapping 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11895995 EDC3 enhancer of mRNA decapping 3 gene DOID:2717 Bloom syndrome ISO RGD:1604794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11895995 EDC3 enhancer of mRNA decapping 3 gene DOID:5419 schizophrenia ISO RGD:1604794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11895995 EDC3 enhancer of mRNA decapping 3 gene DOID:630 genetic disease ISO RGD:1604794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11895995 EDC3 enhancer of mRNA decapping 3 gene DOID:9256 colorectal cancer ISO RGD:1604794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11896006 TBCE tubulin folding cofactor E gene DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome ISO RGD:1313614 D RGD:7240710 20180130 OMIM 11896006 TBCE tubulin folding cofactor E gene DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome ISO RGD:1313614 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome PMID:12389028|PMID:12389029|PMID:16199547|PMID:16938882|PMID:17576681|PMID:20152369|PMID:25097779|PMID:25741868|PMID:26231322|PMID:26336027|PMID:27666369|PMID:28492532|PMID:30080992|PMID:30638765|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:9536098 11896006 TBCE tubulin folding cofactor E gene DOID:0080722 Kenny-Caffey syndrome type 1 ISO RGD:1313614 D RGD:7240710 20180130 OMIM 11896006 TBCE tubulin folding cofactor E gene DOID:0080722 Kenny-Caffey syndrome type 1 ISO RGD:1313614 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal recessive Kenny-Caffey syndrome | ClinVar Annotator: match by term: Kenny-Caffey syndrome type 1 PMID:12389028|PMID:15645691|PMID:16199547|PMID:2001103|PMID:20152369|PMID:25097779|PMID:25741868|PMID:26231322|PMID:26336027|PMID:27666369|PMID:28492532|PMID:30080992|PMID:30638765|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:7538982|PMID:9475091 11896006 TBCE tubulin folding cofactor E gene DOID:0080723 Kenny-Caffey syndrome type 2 ISO RGD:1313614 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12389028 11896006 TBCE tubulin folding cofactor E gene DOID:0111230 congenital muscular dystrophy-dystroglycanopathy type A11 ISO RGD:1313614 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 PMID:23453667|PMID:25326637|PMID:25741868|PMID:28492532 11896006 TBCE tubulin folding cofactor E gene DOID:104 bacterial infectious disease ISO RGD:1313614 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12389028 11896006 TBCE tubulin folding cofactor E gene DOID:10907 microcephaly ISO RGD:1313614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11896006 TBCE tubulin folding cofactor E gene DOID:11199 hypoparathyroidism ISO RGD:1313614 D RGD:9068941 20200609 RGD hypoparathyroidism-retardation-dysmorphism syndrome, OMIM:241410 PMID:12389028|REF_RGD_ID:1599303 11896006 TBCE tubulin folding cofactor E gene DOID:1540 parathyroid carcinoma ISO RGD:1313614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11896006 TBCE tubulin folding cofactor E gene DOID:1923 disorder of sexual development ISO RGD:1313614 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation PMID:16199547|PMID:25741868|PMID:27666369|PMID:28492532|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193 11896006 TBCE tubulin folding cofactor E gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1313614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:28492532 11896006 TBCE tubulin folding cofactor E gene DOID:4254 osteosclerosis ISO RGD:1313614 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12389028 11896006 TBCE tubulin folding cofactor E gene DOID:630 genetic disease ISO RGD:1313614 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12389028|PMID:15645691|PMID:16199547|PMID:17576681|PMID:2001103|PMID:25741868|PMID:27666369|PMID:28492532|PMID:7538982|PMID:9475091|PMID:9536098 11896006 TBCE tubulin folding cofactor E gene DOID:9001487 Facies ISO RGD:1313614 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12389028 11896006 TBCE tubulin folding cofactor E gene DOID:9005242 Progressive Encephalopathy with Amyotrophy and Optic Atrophy ISO RGD:1313614 D RGD:7240710 20190315 OMIM 11896006 TBCE tubulin folding cofactor E gene DOID:9005242 Progressive Encephalopathy with Amyotrophy and Optic Atrophy ISO RGD:1313614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy PMID:25741868|PMID:27666369|PMID:28492532|PMID:34134906 11896006 TBCE tubulin folding cofactor E gene DOID:9007661 Dwarfism ISO RGD:1313614 D RGD:9068941 20200609 RGD Kenny-Caffey syndrome , OMIM:244460 PMID:12389028|REF_RGD_ID:1599303 11896006 TBCE tubulin folding cofactor E gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1313614 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12389028 11896006 TBCE tubulin folding cofactor E gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11896027 UTP4 UTP4 small subunit processome component gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1322745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11896027 UTP4 UTP4 small subunit processome component gene DOID:12236 primary biliary cholangitis ISO RGD:1322745 D RGD:9068941 20200609 RGD North American Indian childhood cirrhosis, OMIM:604901, R565W PMID:12417987|REF_RGD_ID:1600653 11896027 UTP4 UTP4 small subunit processome component gene DOID:13580 cholestasis ISO RGD:1322745 D RGD:9068941 20200609 RGD North American Indian childhood cirrhosis, OMIM:604901, R565W PMID:12417987|REF_RGD_ID:1600653 11896027 UTP4 UTP4 small subunit processome component gene DOID:630 genetic disease ISO RGD:1322745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11896027 UTP4 UTP4 small subunit processome component gene DOID:9006899 North American Indian Childhood Cirrhosis ISO RGD:1322745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary North American Indian childhood cirrhosis PMID:12417987|PMID:16225863|PMID:19732766|PMID:20385600|PMID:22916032|PMID:24123366|PMID:25741868|PMID:27535533|PMID:28492532 11896052 RANBP17 RAN binding protein 17 gene DOID:0060041 autism spectrum disorder ISO RGD:1345238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder 11896052 RANBP17 RAN binding protein 17 gene DOID:10908 hydrocephalus ISO RGD:1345238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 11896052 RANBP17 RAN binding protein 17 gene DOID:630 genetic disease ISO RGD:1345238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11896088 SEC23IP SEC23 interacting protein gene DOID:630 genetic disease ISO RGD:1319616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11896119 ICAM3 intercellular adhesion molecule 3 gene DOID:12236 primary biliary cholangitis ISO RGD:1343048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18422935 11896119 ICAM3 intercellular adhesion molecule 3 gene DOID:630 genetic disease ISO RGD:1343048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11896138 ANKRD49 ankyrin repeat domain 49 gene DOID:1059 intellectual disability ISO RGD:1606551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11896138 ANKRD49 ankyrin repeat domain 49 gene DOID:12704 ataxia telangiectasia ISO RGD:1606551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11896138 ANKRD49 ankyrin repeat domain 49 gene DOID:630 genetic disease ISO RGD:1606551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11896167 DPYSL5 dihydropyrimidinase like 5 gene DOID:0060041 autism spectrum disorder ISO RGD:733917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11896167 DPYSL5 dihydropyrimidinase like 5 gene DOID:0060571 Ritscher-Schinzel syndrome 1 ISO RGD:733917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 PMID:31474318|PMID:33894126|PMID:3812597 11896167 DPYSL5 dihydropyrimidinase like 5 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:733917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11896167 DPYSL5 dihydropyrimidinase like 5 gene DOID:2785 Dandy-Walker syndrome ISO RGD:733917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:31474318|PMID:33894126|PMID:3812597 11896167 DPYSL5 dihydropyrimidinase like 5 gene DOID:630 genetic disease ISO RGD:733917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11896167 DPYSL5 dihydropyrimidinase like 5 gene DOID:9007567 Ritscher-Schinzel Syndrome 4 ISO RGD:733917 D RGD:7240710 20210728 OMIM 11896167 DPYSL5 dihydropyrimidinase like 5 gene DOID:9007567 Ritscher-Schinzel Syndrome 4 ISO RGD:733917 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 4 PMID:25741868|PMID:31474318|PMID:33894126|PMID:3812597 11896184 ASIC5 acid sensing ion channel subunit family member 5 gene DOID:630 genetic disease ISO RGD:736018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11896184 ASIC5 acid sensing ion channel subunit family member 5 gene DOID:9007479 Habitual Abortions ISO RGD:736018 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3 11896196 DHX37 DEAH-box helicase 37 gene DOID:1059 intellectual disability ISO RGD:1315679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:26539891|PMID:31256877 11896196 DHX37 DEAH-box helicase 37 gene DOID:11975 coloboma of optic nerve ISO RGD:1315679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coloboma of optic nerve PMID:31256877 11896196 DHX37 DEAH-box helicase 37 gene DOID:1826 epilepsy ISO RGD:1315679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532|PMID:31256877 11896196 DHX37 DEAH-box helicase 37 gene DOID:630 genetic disease ISO RGD:1315679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11896196 DHX37 DEAH-box helicase 37 gene DOID:9002794 NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES ISO RGD:1315679 D RGD:7240710 20200226 OMIM 11896196 DHX37 DEAH-box helicase 37 gene DOID:9002794 NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES ISO RGD:1315679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies PMID:25741868|PMID:26539891|PMID:28492532|PMID:31256877 11896196 DHX37 DEAH-box helicase 37 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorders PMID:26539891|PMID:28492532|PMID:31256877 11896196 DHX37 DEAH-box helicase 37 gene DOID:9008502 Anorchia ISO RGD:1315679 D RGD:7240710 20200429 OMIM 11896196 DHX37 DEAH-box helicase 37 gene DOID:9008502 Anorchia ISO RGD:1315679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: TESTICULAR REGRESSION, EMBRYONIC | ClinVar Annotator: match by term: Testicular regression syndrome PMID:25741868|PMID:26539891|PMID:28492532|PMID:31287541|PMID:31337883 11896230 MAPRE3 microtubule associated protein RP/EB family member 3 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1343455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11896230 MAPRE3 microtubule associated protein RP/EB family member 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1343455 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11896230 MAPRE3 microtubule associated protein RP/EB family member 3 gene DOID:630 genetic disease ISO RGD:1343455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11896230 MAPRE3 microtubule associated protein RP/EB family member 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:1343455 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11896255 MINK1 misshapen like kinase 1 gene DOID:12849 autistic disorder ISO RGD:1604362 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 11896255 MINK1 misshapen like kinase 1 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1604362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:17363247 11896255 MINK1 misshapen like kinase 1 gene DOID:630 genetic disease ISO RGD:1604362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11896308 NHLRC3 NHL repeat containing 3 gene DOID:630 genetic disease ISO RGD:1605503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11896326 SIN3B SIN3 transcription regulator family member B gene DOID:630 genetic disease ISO RGD:1348412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11896349 APBA2 amyloid beta precursor protein binding family A member 2 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:733396 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:31690835 11896349 APBA2 amyloid beta precursor protein binding family A member 2 gene DOID:1059 intellectual disability ISO RGD:733396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11896349 APBA2 amyloid beta precursor protein binding family A member 2 gene DOID:12849 autistic disorder ISO RGD:733396 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 11896349 APBA2 amyloid beta precursor protein binding family A member 2 gene DOID:1932 Angelman syndrome ISO RGD:733396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome 11896349 APBA2 amyloid beta precursor protein binding family A member 2 gene DOID:37 skin disease ISO RGD:733396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28720099 11896349 APBA2 amyloid beta precursor protein binding family A member 2 gene DOID:5419 schizophrenia ISO RGD:733396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11896349 APBA2 amyloid beta precursor protein binding family A member 2 gene DOID:630 genetic disease ISO RGD:733396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11896378 CDH9 cadherin 9 gene DOID:12849 autistic disorder ISO RGD:1354185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19404256 11896378 CDH9 cadherin 9 gene DOID:630 genetic disease ISO RGD:1354185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11896378 CDH9 cadherin 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11896394 FANCM FA complementation group M gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1317358 D RGD:9068941 20200609 RGD PMID:17409780|REF_RGD_ID:11049143 11896394 FANCM FA complementation group M gene DOID:0080872 primary ovarian insufficiency 15 ISO RGD:1317358 D RGD:7240710 20200101 OMIM 11896394 FANCM FA complementation group M gene DOID:0080872 primary ovarian insufficiency 15 ISO RGD:1317358 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 15 PMID:17289582|PMID:18174376|PMID:19379763|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:28492532|PMID:29231814|PMID:30075111|PMID:31700994 11896394 FANCM FA complementation group M gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1317358 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:17289582|PMID:18174376|PMID:19379763|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28881617|PMID:29231814|PMID:29351780|PMID:30075111|PMID:31700994|PMID:33471991 11896394 FANCM FA complementation group M gene DOID:0111916 spermatogenic failure 28 ISO RGD:1317358 D RGD:7240710 20190315 OMIM 11896394 FANCM FA complementation group M gene DOID:0111916 spermatogenic failure 28 ISO RGD:1317358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 28 PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:21681190|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26094658|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26822949|PMID:28033443|PMID:28492532|PMID:2867840|PMID:28678401|PMID:28702895|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:29231814|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30158692|PMID:30426508|PMID:30995915|PMID:31428572|PMID:31700994|PMID:31991861|PMID:32235514|PMID:32268276|PMID:32566746|PMID:33471991|PMID:34174131|PMID:9536098 11896394 FANCM FA complementation group M gene DOID:13636 Fanconi anemia ISO RGD:1317358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:16199547|PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:19763152|PMID:20307669|PMID:21681190|PMID:22406018|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26067930|PMID:26094658|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26689913|PMID:26740942|PMID:26822949|PMID:27913932|PMID:28033443|PMID:28492532|PMID:2867840|PMID:28678401|PMID:28702895|PMID:28715532|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:29231814|PMID:29287190|PMID:29351780|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30676620|PMID:30995915|PMID:31700994|PMID:31991861|PMID:32566746|PMID:9536098 11896394 FANCM FA complementation group M gene DOID:13636 Fanconi anemia ISO RGD:1317358 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:16199547|PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:19763152|PMID:20307669|PMID:21681190|PMID:22406018|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25640679|PMID:25741868|PMID:26094658|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26822949|PMID:27626068|PMID:28033443|PMID:28492532|PMID:28678401|PMID:28702895|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:29231814|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:31263571|PMID:31428572|PMID:31700994|PMID:31991861|PMID:32235514|PMID:32268276|PMID:32566746|PMID:32868804|PMID:33471991|PMID:34174131|PMID:9536098 11896394 FANCM FA complementation group M gene DOID:13636 Fanconi anemia ISO RGD:1317358 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:16199547|PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:19763152|PMID:20307669|PMID:21681190|PMID:22406018|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25640679|PMID:25741868|PMID:26094658|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26822949|PMID:27626068|PMID:28033443|PMID:28492532|PMID:28678401|PMID:28702895|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:29231814|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:31263571|PMID:31428572|PMID:31700994|PMID:31991861|PMID:32235514|PMID:32268276|PMID:32566746|PMID:32868804|PMID:32906206|PMID:33471991|PMID:34174131|PMID:9536098 11896394 FANCM FA complementation group M gene DOID:13636 Fanconi anemia ISO RGD:1317358 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:16199547|PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:19763152|PMID:20307669|PMID:21681190|PMID:22406018|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26094658|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26822949|PMID:27626068|PMID:27913932|PMID:28033443|PMID:28492532|PMID:2867840|PMID:28678401|PMID:28702895|PMID:28715532|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:28975465|PMID:29231814|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:30676620|PMID:30995915|PMID:31263571|PMID:31428572|PMID:31700994|PMID:31991861|PMID:32235514|PMID:32268276|PMID:32427313|PMID:32566746|PMID:32868804|PMID:32906206|PMID:32994724|PMID:33471991|PMID:34174131|PMID:9536098 11896394 FANCM FA complementation group M gene DOID:14227 azoospermia ISO RGD:1317358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia PMID:17289582|PMID:18174376|PMID:19379763|PMID:23932590|PMID:24003026|PMID:25741868|PMID:26130695|PMID:28492532|PMID:28702895|PMID:28837162|PMID:30075111 11896394 FANCM FA complementation group M gene DOID:2155 malignant ovarian germ cell neoplasm ISO RGD:1317358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant germ cell tumor of ovary PMID:17289582|PMID:18174376|PMID:19379763|PMID:23932590|PMID:24003026|PMID:25741868|PMID:26130695|PMID:28492532|PMID:28702895|PMID:28837162|PMID:30075111 11896394 FANCM FA complementation group M gene DOID:3883 Lynch syndrome ISO RGD:1317358 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma PMID:17289582|PMID:18174376|PMID:19379763|PMID:23932590|PMID:24003026|PMID:25741868|PMID:26130695|PMID:28492532|PMID:28702895|PMID:28837162|PMID:30075111 11896394 FANCM FA complementation group M gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1317358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532|PMID:32566746 11896394 FANCM FA complementation group M gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1317358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:17576681|PMID:25741868|PMID:28492532|PMID:31428572|PMID:32566746|PMID:33471991|PMID:9536098 11896394 FANCM FA complementation group M gene DOID:630 genetic disease ISO RGD:1317358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:32566746|PMID:33471991 11896394 FANCM FA complementation group M gene DOID:687 hepatoblastoma ISO RGD:1317358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:28492532 11896394 FANCM FA complementation group M gene DOID:768 retinoblastoma ISO RGD:1317358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:25741868 11896394 FANCM FA complementation group M gene DOID:9002912 Fanconi Anemia Complementation Group M ISO RGD:1317358 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia, complementation group M PMID:16116422|PMID:19423727|PMID:19737859|PMID:25741868|PMID:28492532|PMID:33471991 11896394 FANCM FA complementation group M gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1317358 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11896394 FANCM FA complementation group M gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317358 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:17289582|PMID:18174376|PMID:19379763|PMID:19737859|PMID:21681190|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26822949|PMID:27626068|PMID:28033443|PMID:28492532|PMID:28678401|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:31263571|PMID:31428572|PMID:31700994|PMID:31991861|PMID:32235514|PMID:32268276|PMID:32566746|PMID:32868804|PMID:32906206|PMID:33471991|PMID:34174131 11896394 FANCM FA complementation group M gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17289582|PMID:18174376|PMID:19379763|PMID:19737859|PMID:21681190|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26822949|PMID:27626068|PMID:28033443|PMID:28492532|PMID:28678401|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:30995915|PMID:31263571|PMID:31428572|PMID:31700994|PMID:31991861|PMID:32235514|PMID:32268276|PMID:32566746|PMID:32868804|PMID:32906206|PMID:33471991|PMID:34174131 11896394 FANCM FA complementation group M gene DOID:9008952 Breast Cancer, Familial ISO RGD:1317358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:17289582|PMID:18174376|PMID:19379763|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26130695|PMID:28492532|PMID:28702895|PMID:28837162|PMID:29231814|PMID:30075111|PMID:31700994 11896426 GNA13 G protein subunit alpha 13 gene DOID:630 genetic disease ISO RGD:1320997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11896426 GNA13 G protein subunit alpha 13 gene DOID:8584 Burkitt lymphoma ISO RGD:1320997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 11896426 GNA13 G protein subunit alpha 13 gene DOID:9007387 Oligodontia-Colorectal Cancer Syndrome ISO RGD:1320997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome PMID:28492532 11896440 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:732496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21173233 11896440 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:0060903 thrombosis ISO RGD:620917 D RGD:9068941 20200609 RGD PMID:15834429|REF_RGD_ID:1580861 11896440 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:10283 prostate cancer disease_progression ISO RGD:732496 D RGD:9068941 20200609 RGD PMID:18372911|REF_RGD_ID:13506810 11896440 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:10283 prostate cancer treatment ISO RGD:732496 D RGD:9068941 20200609 RGD PMID:20103642|REF_RGD_ID:13506809 11896440 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:1380 endometrial cancer onset ISO RGD:732496 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium (human) PMID:28002804|REF_RGD_ID:13674181 11896440 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:1984 rectal benign neoplasm disease_progression ISO RGD:732496 D RGD:9068941 20200609 RGD PMID:25473181|REF_RGD_ID:13432031 11896440 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:732496 D RGD:9068941 20200609 RGD PMID:18755892|REF_RGD_ID:13217420 11896440 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:3068 glioblastoma ISO RGD:732496 D RGD:9068941 20200609 RGD PMID:21188471|REF_RGD_ID:13782050 11896440 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:3068 glioblastoma disease_progression ISO RGD:732496 D RGD:9068941 20200609 RGD PMID:26956052|REF_RGD_ID:11343921 11896440 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:5419 schizophrenia ISO RGD:732496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 11896440 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:630 genetic disease ISO RGD:732496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11896440 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:684 hepatocellular carcinoma treatment ISO RGD:620917 D RGD:9068941 20220520 RGD PMID:25999787|REF_RGD_ID:152177911 11896440 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:9000081 Lymphatic Metastasis ISO RGD:732496 D RGD:9068941 20200609 RGD associated with Colorectal Neoplasms PMID:25550888|REF_RGD_ID:13432030 11896440 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:732496 D RGD:9068941 20220421 RGD PMID:28756200|REF_RGD_ID:151893490 11896440 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:9002304 Prostatic Neoplasms ISO RGD:732496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11896440 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:9007715 Endometrial Neoplasms ISO RGD:732496 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium (human) PMID:17427168|REF_RGD_ID:13441594 11896440 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:732496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 11896440 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:9256 colorectal cancer ameliorates ISO RGD:732496 D RGD:9068941 20220421 RGD human cells in mouse model PMID:30789971|REF_RGD_ID:151893289 11896440 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:732496 D RGD:9068941 20200609 RGD PMID:11812753|REF_RGD_ID:13506799 11896468 PTCHD4 patched domain containing 4 gene DOID:630 genetic disease ISO RGD:1606357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11896481 TLE5 TLE family member 5, transcriptional modulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11896481 TLE5 TLE family member 5, transcriptional modulator gene DOID:9007102 Myocardial Ischemia ISO RGD:737345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11896493 FOXN3 forkhead box N3 gene DOID:630 genetic disease ISO RGD:1313904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11896508 SEPTIN14 septin 14 gene DOID:12849 autistic disorder ISO RGD:1602813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11896508 SEPTIN14 septin 14 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1602813 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:rs10241628, rs11981883, rs77231105 (human) PMID:27115672|REF_RGD_ID:13504669 11896508 SEPTIN14 septin 14 gene DOID:3068 glioblastoma ISO RGD:1602813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23917401 11896508 SEPTIN14 septin 14 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11896508 SEPTIN14 septin 14 gene DOID:630 genetic disease ISO RGD:1602813 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11896519 RPLP2 ribosomal protein lateral stalk subunit P2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11896519 RPLP2 ribosomal protein lateral stalk subunit P2 gene DOID:0050729 neutral lipid storage disease ISO RGD:735289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 11896519 RPLP2 ribosomal protein lateral stalk subunit P2 gene DOID:0080773 delta beta-thalassemia ISO RGD:735289 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11896519 RPLP2 ribosomal protein lateral stalk subunit P2 gene DOID:0111969 immunodeficiency 39 ISO RGD:735289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11896519 RPLP2 ribosomal protein lateral stalk subunit P2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11896519 RPLP2 ribosomal protein lateral stalk subunit P2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11896519 RPLP2 ribosomal protein lateral stalk subunit P2 gene DOID:630 genetic disease ISO RGD:735289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11896519 RPLP2 ribosomal protein lateral stalk subunit P2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:735289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11896519 RPLP2 ribosomal protein lateral stalk subunit P2 gene DOID:9008939 Breast Neoplasms ISO RGD:735289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 11896528 CPEB1 cytoplasmic polyadenylation element binding protein 1 gene DOID:10762 portal hypertension ISO RGD:1310421 D RGD:9068941 20200609 RGD protein:increased expression:mesentary PMID:26627607|REF_RGD_ID:11528851 11896528 CPEB1 cytoplasmic polyadenylation element binding protein 1 gene DOID:10762 portal hypertension treatment ISO RGD:1321315 D RGD:9068941 20200609 RGD PMID:26627607|REF_RGD_ID:11528851 11896528 CPEB1 cytoplasmic polyadenylation element binding protein 1 gene DOID:12236 primary biliary cholangitis ISO RGD:1310421 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:26627607|REF_RGD_ID:11528851 11896528 CPEB1 cytoplasmic polyadenylation element binding protein 1 gene DOID:13938 amenorrhea ISO RGD:1321314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11896528 CPEB1 cytoplasmic polyadenylation element binding protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1321314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11896528 CPEB1 cytoplasmic polyadenylation element binding protein 1 gene DOID:3068 glioblastoma disease_progression ISO RGD:1310421 D RGD:9068941 20200609 RGD PMID:23360795|REF_RGD_ID:9685152 11896528 CPEB1 cytoplasmic polyadenylation element binding protein 1 gene DOID:5082 liver cirrhosis ISO RGD:1321314 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic; protein:increased expression:liver PMID:26627607|REF_RGD_ID:11528851 11896528 CPEB1 cytoplasmic polyadenylation element binding protein 1 gene DOID:630 genetic disease ISO RGD:1321314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11896528 CPEB1 cytoplasmic polyadenylation element binding protein 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1321314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062064 11896528 CPEB1 cytoplasmic polyadenylation element binding protein 1 gene DOID:9256 colorectal cancer ISO RGD:1321314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11896554 PODNL1 podocan like 1 gene DOID:630 genetic disease ISO RGD:1602677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11896586 NR1D2 nuclear receptor subfamily 1 group D member 2 gene DOID:0050651 atrioventricular septal defect ISO RGD:737421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect PMID:27058611 11896586 NR1D2 nuclear receptor subfamily 1 group D member 2 gene DOID:289 endometriosis ISO RGD:737421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 11896586 NR1D2 nuclear receptor subfamily 1 group D member 2 gene DOID:630 genetic disease ISO RGD:737421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11896603 HOGA1 4-hydroxy-2-oxoglutarate aldolase 1 gene DOID:0111672 primary hyperoxaluria type 3 ISO RGD:1321399 D RGD:7240710 20180130 OMIM 11896603 HOGA1 4-hydroxy-2-oxoglutarate aldolase 1 gene DOID:0111672 primary hyperoxaluria type 3 ISO RGD:1321399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria type 3 PMID:16199547|PMID:17576681|PMID:20797690|PMID:21896830|PMID:21998747|PMID:22391140|PMID:22771891|PMID:22781098|PMID:22851625|PMID:24033266|PMID:24563386|PMID:25629080|PMID:25644115|PMID:25741868|PMID:25972204|PMID:26340091|PMID:26342005|PMID:27096395|PMID:27561601|PMID:27742850|PMID:28492532|PMID:28711958|PMID:30488096|PMID:30609409|PMID:31123811|PMID:31401635|PMID:31589614|PMID:33350326|PMID:33495102|PMID:33865885|PMID:9536098 11896603 HOGA1 4-hydroxy-2-oxoglutarate aldolase 1 gene DOID:13580 cholestasis ISO RGD:1321399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 11896603 HOGA1 4-hydroxy-2-oxoglutarate aldolase 1 gene DOID:2977 primary hyperoxaluria ISO RGD:1321399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:28492532 11896603 HOGA1 4-hydroxy-2-oxoglutarate aldolase 1 gene DOID:630 genetic disease ISO RGD:1321399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11896696 NPTXR neuronal pentraxin receptor gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1607068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11896696 NPTXR neuronal pentraxin receptor gene DOID:2316 brain ischemia ISO RGD:628898 D RGD:9068941 20200609 RGD mRNA:decreased expression:neocortex PMID:12242102|REF_RGD_ID:1642302 11896696 NPTXR neuronal pentraxin receptor gene DOID:6000 congestive heart failure ISO RGD:628898 D RGD:9068941 20200609 RGD associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum PMID:16497176|REF_RGD_ID:1642301 11896696 NPTXR neuronal pentraxin receptor gene DOID:630 genetic disease ISO RGD:1607068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11896711 PNPLA8 patatin like phospholipase domain containing 8 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11896711 PNPLA8 patatin like phospholipase domain containing 8 gene DOID:630 genetic disease ISO RGD:1603644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11896711 PNPLA8 patatin like phospholipase domain containing 8 gene DOID:9002494 Mitochondrial Myopathy with Lactic Acidosis ISO RGD:1603644 D RGD:7240710 20180130 OMIM 11896711 PNPLA8 patatin like phospholipase domain containing 8 gene DOID:9002494 Mitochondrial Myopathy with Lactic Acidosis ISO RGD:1603644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial myopathy with lactic acidosis PMID:19840936|PMID:25512002|PMID:25741868|PMID:28492532|PMID:34782754 11896742 TRPM1 transient receptor potential cation channel subfamily M member 1 gene DOID:0050534 congenital stationary night blindness ISO RGD:1312607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive | ClinVar Annotator: match by term: Congenital stationary night blindness PMID:17576681|PMID:19878917|PMID:19896113|PMID:19966281|PMID:20300565|PMID:25741868|PMID:27803854|PMID:28041643|PMID:28492532|PMID:29074561|PMID:9536098 11896742 TRPM1 transient receptor potential cation channel subfamily M member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1312607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:19050728|PMID:19289393|PMID:21844811|PMID:23044707|PMID:25255310|PMID:25741868|PMID:27569545 11896742 TRPM1 transient receptor potential cation channel subfamily M member 1 gene DOID:0060394 chromosome 15q13.3 microdeletion syndrome ISO RGD:1312607 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome PMID:31690835 11896742 TRPM1 transient receptor potential cation channel subfamily M member 1 gene DOID:0110867 congenital stationary night blindness 1C ISO RGD:1312607 D RGD:7240710 20180130 OMIM 11896742 TRPM1 transient receptor potential cation channel subfamily M member 1 gene DOID:0110867 congenital stationary night blindness 1C ISO RGD:1312607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1C PMID:16199547|PMID:19436059|PMID:19878917|PMID:19896109|PMID:19896113|PMID:19966281|PMID:20300565|PMID:22277662|PMID:25307992|PMID:25741868|PMID:25999674|PMID:26493165|PMID:26872967|PMID:27803854|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29522070|PMID:30718709 11896742 TRPM1 transient receptor potential cation channel subfamily M member 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1312607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:30718709 11896742 TRPM1 transient receptor potential cation channel subfamily M member 1 gene DOID:1059 intellectual disability ISO RGD:1312607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11896742 TRPM1 transient receptor potential cation channel subfamily M member 1 gene DOID:12849 autistic disorder ISO RGD:1312607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11896742 TRPM1 transient receptor potential cation channel subfamily M member 1 gene DOID:3070 high grade glioma ISO RGD:1312607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11896742 TRPM1 transient receptor potential cation channel subfamily M member 1 gene DOID:5419 schizophrenia ISO RGD:1312607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11896742 TRPM1 transient receptor potential cation channel subfamily M member 1 gene DOID:630 genetic disease ISO RGD:1312607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11896742 TRPM1 transient receptor potential cation channel subfamily M member 1 gene DOID:8501 fundus dystrophy ISO RGD:1312607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:19896109|PMID:19896113|PMID:19966281|PMID:20300565|PMID:23714322|PMID:28492532|PMID:28559085|PMID:29522070 11896742 TRPM1 transient receptor potential cation channel subfamily M member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11896742 TRPM1 transient receptor potential cation channel subfamily M member 1 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1312607 D RGD:9068941 20200609 RGD DNA:SNP:intron:g.59080C>T (rs11070811) (human) PMID:21439949|REF_RGD_ID:7175561 11896742 TRPM1 transient receptor potential cation channel subfamily M member 1 gene DOID:9256 colorectal cancer ISO RGD:1312607 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 11896782 ANP32E acidic nuclear phosphoprotein 32 family member E gene DOID:0111940 immunodeficiency 42 ISO RGD:1321615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11896782 ANP32E acidic nuclear phosphoprotein 32 family member E gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1321615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11896782 ANP32E acidic nuclear phosphoprotein 32 family member E gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1321615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11896782 ANP32E acidic nuclear phosphoprotein 32 family member E gene DOID:1540 parathyroid carcinoma ISO RGD:1321615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11896782 ANP32E acidic nuclear phosphoprotein 32 family member E gene DOID:5812 MHC class II deficiency ISO RGD:1321615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11896782 ANP32E acidic nuclear phosphoprotein 32 family member E gene DOID:630 genetic disease ISO RGD:1321615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11896782 ANP32E acidic nuclear phosphoprotein 32 family member E gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11896796 DYNC1I1 dynein cytoplasmic 1 intermediate chain 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:734329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11896796 DYNC1I1 dynein cytoplasmic 1 intermediate chain 1 gene DOID:574 peripheral nervous system disease ISO RGD:734329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21228734 11896796 DYNC1I1 dynein cytoplasmic 1 intermediate chain 1 gene DOID:630 genetic disease ISO RGD:734329 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11896821 PCNX1 pecanex 1 gene DOID:10283 prostate cancer ISO RGD:1352404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11896821 PCNX1 pecanex 1 gene DOID:630 genetic disease ISO RGD:1352404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11896872 STT3B STT3 oligosaccharyltransferase complex catalytic subunit B gene DOID:0080573 congenital disorder of glycosylation Ix ISO RGD:1606939 D RGD:7240710 20180130 OMIM 11896872 STT3B STT3 oligosaccharyltransferase complex catalytic subunit B gene DOID:0080573 congenital disorder of glycosylation Ix ISO RGD:1606939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CDG Ix | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1x PMID:17576681|PMID:23842455|PMID:25741868|PMID:28492532|PMID:32253875|PMID:9536098 11896872 STT3B STT3 oligosaccharyltransferase complex catalytic subunit B gene DOID:630 genetic disease ISO RGD:1606939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11896893 SLC1A1 solute carrier family 1 member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732972 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:31209396|PMID:35663546 11896893 SLC1A1 solute carrier family 1 member 1 gene DOID:0060650 dicarboxylic aminoaciduria ISO RGD:732972 D RGD:7240710 20230517 OMIM 11896893 SLC1A1 solute carrier family 1 member 1 gene DOID:0060650 dicarboxylic aminoaciduria ISO RGD:732972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dicarboxylic aminoaciduria PMID:21123949|PMID:25741868|PMID:28492532 11896893 SLC1A1 solute carrier family 1 member 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:732972 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 11896893 SLC1A1 solute carrier family 1 member 1 gene DOID:0070093 schizophrenia 18 ISO RGD:732972 D RGD:7240710 20230517 OMIM 11896893 SLC1A1 solute carrier family 1 member 1 gene DOID:0070093 schizophrenia 18 ISO RGD:732972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia 18 PMID:23341099 11896893 SLC1A1 solute carrier family 1 member 1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:732972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11906504 11896893 SLC1A1 solute carrier family 1 member 1 gene DOID:13544 low tension glaucoma ISO RGD:11301 D RGD:9068941 20220825 MouseDO OMIM:606657 11896893 SLC1A1 solute carrier family 1 member 1 gene DOID:13544 low tension glaucoma ISO RGD:732972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28703795 11896893 SLC1A1 solute carrier family 1 member 1 gene DOID:1561 cognitive disorder ISO RGD:732972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22575539 11896893 SLC1A1 solute carrier family 1 member 1 gene DOID:1826 epilepsy ISO RGD:732972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151515 11896893 SLC1A1 solute carrier family 1 member 1 gene DOID:289 endometriosis ISO RGD:732972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 11896893 SLC1A1 solute carrier family 1 member 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:732972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11906504 11896893 SLC1A1 solute carrier family 1 member 1 gene DOID:4752 multiple system atrophy ISO RGD:11301 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex: PMID:24304186|REF_RGD_ID:11553929 11896893 SLC1A1 solute carrier family 1 member 1 gene DOID:4752 multiple system atrophy ISO RGD:732972 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex: PMID:24304186|REF_RGD_ID:11553929 11896893 SLC1A1 solute carrier family 1 member 1 gene DOID:5419 schizophrenia ISO RGD:732972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11896893 SLC1A1 solute carrier family 1 member 1 gene DOID:630 genetic disease ISO RGD:732972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11896893 SLC1A1 solute carrier family 1 member 1 gene DOID:8466 retinal degeneration ISO RGD:732972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28703795 11896893 SLC1A1 solute carrier family 1 member 1 gene DOID:9002955 Nerve Degeneration ISO RGD:732972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28703795 11896893 SLC1A1 solute carrier family 1 member 1 gene DOID:9004462 Atrophy ISO RGD:732972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22575539 11896893 SLC1A1 solute carrier family 1 member 1 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:732972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 11896893 SLC1A1 solute carrier family 1 member 1 gene DOID:936 brain disease ISO RGD:732972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22575539 11896910 RSPH9 radial spoke head component 9 gene DOID:0050444 infantile Refsum disease ISO RGD:1321745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11896910 RSPH9 radial spoke head component 9 gene DOID:0110601 primary ciliary dyskinesia 12 ISO RGD:1321745 D RGD:7240710 20180130 OMIM 11896910 RSPH9 radial spoke head component 9 gene DOID:0110601 primary ciliary dyskinesia 12 ISO RGD:1321745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 12 PMID:19200523|PMID:23993197|PMID:24033266|PMID:25741868|PMID:28492532 11896910 RSPH9 radial spoke head component 9 gene DOID:630 genetic disease ISO RGD:1321745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11896910 RSPH9 radial spoke head component 9 gene DOID:905 Zellweger syndrome ISO RGD:1321745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11896910 RSPH9 radial spoke head component 9 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:19200523|PMID:22384920|PMID:23993197|PMID:24033266|PMID:24307375|PMID:25741868|PMID:25789548|PMID:28492532|PMID:30067075 11896931 STOML1 stomatin like 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1347763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11896931 STOML1 stomatin like 1 gene DOID:2717 Bloom syndrome ISO RGD:1347763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11896931 STOML1 stomatin like 1 gene DOID:5419 schizophrenia ISO RGD:1347763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11896931 STOML1 stomatin like 1 gene DOID:630 genetic disease ISO RGD:1347763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11896931 STOML1 stomatin like 1 gene DOID:9256 colorectal cancer ISO RGD:1347763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11896951 TDRD5 tudor domain containing 5 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1316056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 11896951 TDRD5 tudor domain containing 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1316056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11896951 TDRD5 tudor domain containing 5 gene DOID:630 genetic disease ISO RGD:1316056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11896951 TDRD5 tudor domain containing 5 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1316056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11896951 TDRD5 tudor domain containing 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11896977 ZBED1 zinc finger BED-type containing 1 gene DOID:12849 autistic disorder ISO RGD:1348579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11896977 ZBED1 zinc finger BED-type containing 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 11896988 NCAN neurocan gene DOID:11054 urinary bladder cancer ISO RGD:1344259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 11896988 NCAN neurocan gene DOID:3312 bipolar disorder ISO RGD:1344259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 11896988 NCAN neurocan gene DOID:4428 dyslexia ISO RGD:1344259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental dyslexia PMID:28839234 11896988 NCAN neurocan gene DOID:630 genetic disease ISO RGD:1344259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897013 PPARD peroxisome proliferator activated receptor delta gene DOID:0050553 JMP syndrome ISO RGD:736289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11897013 PPARD peroxisome proliferator activated receptor delta gene DOID:0050700 cardiomyopathy ISO RGD:736289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20075336 11897013 PPARD peroxisome proliferator activated receptor delta gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:736289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16574099|PMID:29289645 11897013 PPARD peroxisome proliferator activated receptor delta gene DOID:1793 pancreatic cancer disease_progression ISO RGD:736289 D RGD:9068941 20200609 RGD PMID:17652168|REF_RGD_ID:2324872 11897013 PPARD peroxisome proliferator activated receptor delta gene DOID:1909 melanoma ISO RGD:736289 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28962521 11897013 PPARD peroxisome proliferator activated receptor delta gene DOID:4607 biliary tract cancer ISO RGD:736289 D RGD:9068941 20200609 RGD PMID:18497548|REF_RGD_ID:2324871 11897013 PPARD peroxisome proliferator activated receptor delta gene DOID:574 peripheral nervous system disease ISO RGD:736289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405|PMID:21245421 11897013 PPARD peroxisome proliferator activated receptor delta gene DOID:630 genetic disease ISO RGD:736289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897013 PPARD peroxisome proliferator activated receptor delta gene DOID:9000039 Spinal Cord Injuries ISO RGD:3370 D RGD:9068941 20200609 RGD PMID:20058304|REF_RGD_ID:2324875 11897013 PPARD peroxisome proliferator activated receptor delta gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:736289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27765815 11897013 PPARD peroxisome proliferator activated receptor delta gene DOID:9003936 Cardiomegaly ISO RGD:3370 D RGD:9068941 20200609 RGD PMID:15728586|REF_RGD_ID:1580656 11897013 PPARD peroxisome proliferator activated receptor delta gene DOID:9003936 Cardiomegaly ISO RGD:736289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20075336 11897013 PPARD peroxisome proliferator activated receptor delta gene DOID:9004464 Skin Neoplasms ISO RGD:736289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19748995|PMID:21159610 11897013 PPARD peroxisome proliferator activated receptor delta gene DOID:9004657 Weight Gain ISO RGD:736289 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20176998 11897013 PPARD peroxisome proliferator activated receptor delta gene DOID:9004713 Acute-Phase Reaction ISO RGD:3370 D RGD:9068941 20200609 RGD PMID:17461989|REF_RGD_ID:2324886 11897013 PPARD peroxisome proliferator activated receptor delta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3370 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart PMID:18573863|REF_RGD_ID:2313781 11897013 PPARD peroxisome proliferator activated receptor delta gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3370 D RGD:9068941 20200609 RGD PMID:19997057|REF_RGD_ID:2324876 11897013 PPARD peroxisome proliferator activated receptor delta gene DOID:9352 type 2 diabetes mellitus ISO RGD:736289 D RGD:9068941 20200609 RGD DNA:SNPs PMID:16804087|REF_RGD_ID:1625186 11897013 PPARD peroxisome proliferator activated receptor delta gene DOID:9452 fatty liver disease ISO RGD:736289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23851158 11897013 PPARD peroxisome proliferator activated receptor delta gene DOID:9970 obesity ISO RGD:736289 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16168052|PMID:20176998 11897030 CNOT7 CCR4-NOT transcription complex subunit 7 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1313268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 11897030 CNOT7 CCR4-NOT transcription complex subunit 7 gene DOID:12336 male infertility ISO RGD:1305313 D RGD:9068941 20200609 RGD mRNA:increased expression:testis PMID:22785219|REF_RGD_ID:10755341 11897030 CNOT7 CCR4-NOT transcription complex subunit 7 gene DOID:630 genetic disease ISO RGD:1313268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897047 YWHAH-AS1 YWHAH antisense RNA 1 gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1602005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 11897047 YWHAH-AS1 YWHAH antisense RNA 1 gene DOID:630 genetic disease ISO RGD:1602005 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897052 TRIM71 tripartite motif containing 71 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1606726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 11897052 TRIM71 tripartite motif containing 71 gene DOID:0080600 COVID-19 ISO RGD:1606726 D RGD:9068941 20220523 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11897052 TRIM71 tripartite motif containing 71 gene DOID:10908 hydrocephalus ISO RGD:1606726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:25741868|PMID:29983323 11897052 TRIM71 tripartite motif containing 71 gene DOID:630 genetic disease ISO RGD:1606726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897052 TRIM71 tripartite motif containing 71 gene DOID:9003436 CRYPTOZOOSPERMIA ISO RGD:1606726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryptozoospermia PMID:25741868 11897052 TRIM71 tripartite motif containing 71 gene DOID:9007789 Congenital Communicating Hydrocephalus 1 ISO RGD:1606726 D RGD:7240710 20200422 OMIM 11897052 TRIM71 tripartite motif containing 71 gene DOID:9007789 Congenital Communicating Hydrocephalus 1 ISO RGD:1606726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrocephalus, congenital communicating, 1 PMID:25741868|PMID:29983323 11897061 ARGLU1 arginine and glutamate rich 1 gene DOID:630 genetic disease ISO RGD:1605984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897061 ARGLU1 arginine and glutamate rich 1 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1605984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11897069 MEDAG mesenteric estrogen dependent adipogenesis gene DOID:630 genetic disease ISO RGD:1605918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897077 PPP1R13B protein phosphatase 1 regulatory subunit 13B gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1312214 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11897077 PPP1R13B protein phosphatase 1 regulatory subunit 13B gene DOID:630 genetic disease ISO RGD:1312214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897077 PPP1R13B protein phosphatase 1 regulatory subunit 13B gene DOID:9007491 Childhood Schizophrenia ISO RGD:1312214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 11897103 CYTH3 cytohesin 3 gene DOID:630 genetic disease ISO RGD:1348510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897119 CEP57 centrosomal protein 57 gene DOID:0080141 mosaic variegated aneuploidy syndrome 1 ISO RGD:1602500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 PMID:12116237|PMID:21552266|PMID:24259107|PMID:25741868|PMID:28492532|PMID:30010053 11897119 CEP57 centrosomal protein 57 gene DOID:0080142 mosaic variegated aneuploidy syndrome 2 ISO RGD:1602500 D RGD:7240710 20180130 OMIM 11897119 CEP57 centrosomal protein 57 gene DOID:0080142 mosaic variegated aneuploidy syndrome 2 ISO RGD:1602500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 2 PMID:12116237|PMID:16199547|PMID:17576681|PMID:21552266|PMID:24259107|PMID:25741868|PMID:28492532|PMID:30010053|PMID:9536098 11897119 CEP57 centrosomal protein 57 gene DOID:0080688 mosaic variegated aneuploidy syndrome ISO RGD:1602500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 11897119 CEP57 centrosomal protein 57 gene DOID:1059 intellectual disability ISO RGD:1602500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11897119 CEP57 centrosomal protein 57 gene DOID:12704 ataxia telangiectasia ISO RGD:1602500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11897119 CEP57 centrosomal protein 57 gene DOID:630 genetic disease ISO RGD:1602500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11897150 CCL22 C-C motif chemokine ligand 22 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351526 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11897150 CCL22 C-C motif chemokine ligand 22 gene DOID:0060704 lymphoproliferative syndrome ISO RGD:1351526 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35534561 11897150 CCL22 C-C motif chemokine ligand 22 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351526 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11897150 CCL22 C-C motif chemokine ligand 22 gene DOID:106 pleural tuberculosis ISO RGD:1351526 D RGD:9068941 20200609 RGD PMID:20337996|REF_RGD_ID:4891473 11897150 CCL22 C-C motif chemokine ligand 22 gene DOID:1324 lung cancer disease_progression ISO RGD:1351526 D RGD:9068941 20200609 RGD PMID:16453150|REF_RGD_ID:4891472 11897150 CCL22 C-C motif chemokine ligand 22 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1351526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11897150 CCL22 C-C motif chemokine ligand 22 gene DOID:2799 bronchiolitis obliterans ISO RGD:1351526 D RGD:9068941 20200609 RGD PMID:20628341|REF_RGD_ID:4891471 11897150 CCL22 C-C motif chemokine ligand 22 gene DOID:2841 asthma ISO RGD:1351526 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion PMID:18684970|REF_RGD_ID:4145489 11897150 CCL22 C-C motif chemokine ligand 22 gene DOID:2841 asthma ISO RGD:1551080 D RGD:9068941 20200609 RGD PMID:10384142|REF_RGD_ID:4891475 11897150 CCL22 C-C motif chemokine ligand 22 gene DOID:2841 asthma ISO RGD:1551080 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:18316417|REF_RGD_ID:4891474 11897150 CCL22 C-C motif chemokine ligand 22 gene DOID:2841 asthma ISO RGD:619933 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15993846|REF_RGD_ID:2306304 11897150 CCL22 C-C motif chemokine ligand 22 gene DOID:289 endometriosis ISO RGD:1351526 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30579999 11897150 CCL22 C-C motif chemokine ligand 22 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1351526 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion PMID:18684970|REF_RGD_ID:4145489 11897150 CCL22 C-C motif chemokine ligand 22 gene DOID:3310 atopic dermatitis ISO RGD:1351526 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437|PMID:22125604 11897150 CCL22 C-C motif chemokine ligand 22 gene DOID:3744 cervical squamous cell carcinoma severity ISO RGD:1351526 D RGD:9068941 20200807 RGD PMID:28086903|REF_RGD_ID:38455996 11897150 CCL22 C-C motif chemokine ligand 22 gene DOID:3770 pulmonary fibrosis ISO RGD:1351526 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:19715610|REF_RGD_ID:4145488 11897150 CCL22 C-C motif chemokine ligand 22 gene DOID:3770 pulmonary fibrosis ISO RGD:619933 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15993846|REF_RGD_ID:2306304 11897150 CCL22 C-C motif chemokine ligand 22 gene DOID:4483 rhinitis ISO RGD:1351526 D RGD:9068941 20200609 RGD protein:increased expression:blood, mononuclear cell PMID:17517104|REF_RGD_ID:4145498 11897150 CCL22 C-C motif chemokine ligand 22 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:619933 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:glomerulus PMID:12651599|REF_RGD_ID:2306306 11897150 CCL22 C-C motif chemokine ligand 22 gene DOID:552 pneumonia ISO RGD:619933 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15993846|REF_RGD_ID:2306304 11897150 CCL22 C-C motif chemokine ligand 22 gene DOID:630 genetic disease ISO RGD:1351526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897150 CCL22 C-C motif chemokine ligand 22 gene DOID:7148 rheumatoid arthritis ISO RGD:1351526 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:19942450|REF_RGD_ID:10054497 11897150 CCL22 C-C motif chemokine ligand 22 gene DOID:8398 osteoarthritis ISO RGD:1351526 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:19942450|REF_RGD_ID:10054497 11897150 CCL22 C-C motif chemokine ligand 22 gene DOID:9000641 Pain ISO RGD:619933 D RGD:9068941 20200609 RGD PMID:11438578|REF_RGD_ID:2306307 11897150 CCL22 C-C motif chemokine ligand 22 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1551080 D RGD:9068941 20200609 RGD associated with Mycobacterium Infections PMID:12600821|REF_RGD_ID:4145441 11897150 CCL22 C-C motif chemokine ligand 22 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1551080 D RGD:9068941 20200609 RGD associated with Schistosomiasis mansoni PMID:15466387|REF_RGD_ID:4145515 11897150 CCL22 C-C motif chemokine ligand 22 gene DOID:9008604 Radiation Pneumonitis ISO RGD:619933 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung, alveolar macrophage PMID:15293604|REF_RGD_ID:4145517 11897159 LOC100981170 olfactory receptor 13J1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1347486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11897159 LOC100981170 olfactory receptor 13J1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1347486 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11897159 LOC100981170 olfactory receptor 13J1 gene DOID:0080942 anauxetic dysplasia ISO RGD:1347486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11897159 LOC100981170 olfactory receptor 13J1 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1347486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11897159 LOC100981170 olfactory receptor 13J1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1347486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11897159 LOC100981170 olfactory receptor 13J1 gene DOID:630 genetic disease ISO RGD:1347486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897159 LOC100981170 olfactory receptor 13J1 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1347486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11897159 LOC100981170 olfactory receptor 13J1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1347486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11897159 LOC100981170 olfactory receptor 13J1 gene DOID:9870 galactosemia ISO RGD:1347486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11897172 OLFML2B olfactomedin like 2B gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1319500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11897172 OLFML2B olfactomedin like 2B gene DOID:1540 parathyroid carcinoma ISO RGD:1319500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11897172 OLFML2B olfactomedin like 2B gene DOID:630 genetic disease ISO RGD:1319500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897172 OLFML2B olfactomedin like 2B gene DOID:684 hepatocellular carcinoma ISO RGD:1319500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11897172 OLFML2B olfactomedin like 2B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11897172 OLFML2B olfactomedin like 2B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11897190 THEM5 thioesterase superfamily member 5 gene DOID:0111940 immunodeficiency 42 ISO RGD:1601923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11897190 THEM5 thioesterase superfamily member 5 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1601923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11897190 THEM5 thioesterase superfamily member 5 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1601923 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11897190 THEM5 thioesterase superfamily member 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1601923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11897190 THEM5 thioesterase superfamily member 5 gene DOID:5812 MHC class II deficiency ISO RGD:1601923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11897190 THEM5 thioesterase superfamily member 5 gene DOID:630 genetic disease ISO RGD:1601923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897190 THEM5 thioesterase superfamily member 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11897200 SPPL2A signal peptide peptidase like 2A gene DOID:0110803 hereditary spastic paraplegia 51 ISO RGD:1602994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 PMID:20972249 11897200 SPPL2A signal peptide peptidase like 2A gene DOID:2717 Bloom syndrome ISO RGD:1602994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11897200 SPPL2A signal peptide peptidase like 2A gene DOID:607 paraplegia ISO RGD:1602994 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 11897200 SPPL2A signal peptide peptidase like 2A gene DOID:630 genetic disease ISO RGD:1602994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11897200 SPPL2A signal peptide peptidase like 2A gene DOID:9000868 Immunodeficiency 86 ISO RGD:1602994 D RGD:7240710 20211020 OMIM 11897200 SPPL2A signal peptide peptidase like 2A gene DOID:9000868 Immunodeficiency 86 ISO RGD:1602994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 86 PMID:23472171|PMID:30127434 11897200 SPPL2A signal peptide peptidase like 2A gene DOID:9256 colorectal cancer ISO RGD:1602994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11897229 UGT8 UDP glycosyltransferase 8 gene DOID:630 genetic disease ISO RGD:1343181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897239 PARP2 poly(ADP-ribose) polymerase 2 gene DOID:630 genetic disease ISO RGD:1602134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897239 PARP2 poly(ADP-ribose) polymerase 2 gene DOID:811 lipodystrophy ISO RGD:1602134 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21417348 11897239 PARP2 poly(ADP-ribose) polymerase 2 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1310568 D RGD:9068941 20200609 RGD PMID:25281201|REF_RGD_ID:13514043 11897261 PRKD2 protein kinase D2 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1342931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 11897261 PRKD2 protein kinase D2 gene DOID:0110644 long QT syndrome 1 ISO RGD:1342931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:28492532 11897261 PRKD2 protein kinase D2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1342931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11897261 PRKD2 protein kinase D2 gene DOID:630 genetic disease ISO RGD:1342931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897261 PRKD2 protein kinase D2 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1342931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18758461 11897306 PGAP6 post-GPI attachment to proteins 6 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1322834 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11897306 PGAP6 post-GPI attachment to proteins 6 gene DOID:1826 epilepsy ISO RGD:1322834 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 11897306 PGAP6 post-GPI attachment to proteins 6 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1322834 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11897306 PGAP6 post-GPI attachment to proteins 6 gene DOID:630 genetic disease ISO RGD:1322834 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897332 PRUNE2 prune homolog 2 with BCH domain gene DOID:630 genetic disease ISO RGD:1322392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897332 PRUNE2 prune homolog 2 with BCH domain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11897369 FAM3B FAM3 metabolism regulating signaling molecule B gene DOID:12849 autistic disorder ISO RGD:1323237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11897369 FAM3B FAM3 metabolism regulating signaling molecule B gene DOID:630 genetic disease ISO RGD:1323237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897369 FAM3B FAM3 metabolism regulating signaling molecule B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11897398 RUFY3 RUN and FYVE domain containing 3 gene DOID:37 skin disease ISO RGD:1604831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11897398 RUFY3 RUN and FYVE domain containing 3 gene DOID:630 genetic disease ISO RGD:1604831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897398 RUFY3 RUN and FYVE domain containing 3 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1604831 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11897398 RUFY3 RUN and FYVE domain containing 3 gene DOID:9007964 Arsenic Poisoning ISO RGD:1604831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11897434 ZBTB44 zinc finger and BTB domain containing 44 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1606019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11897434 ZBTB44 zinc finger and BTB domain containing 44 gene DOID:5419 schizophrenia ISO RGD:1606019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11897434 ZBTB44 zinc finger and BTB domain containing 44 gene DOID:630 genetic disease ISO RGD:1606019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897434 ZBTB44 zinc finger and BTB domain containing 44 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11897434 ZBTB44 zinc finger and BTB domain containing 44 gene DOID:9007661 Dwarfism ISO RGD:1606019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11897470 PINX1 PIN2 (TERF1) interacting telomerase inhibitor 1 gene DOID:630 genetic disease ISO RGD:1606271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897470 PINX1 PIN2 (TERF1) interacting telomerase inhibitor 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1606271 D RGD:9068941 20220602 RGD associated with Chronic Hepatitis B; DNA:SNP::rs1469557(human) PMID:27221889|REF_RGD_ID:152977752 11897470 PINX1 PIN2 (TERF1) interacting telomerase inhibitor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11897471 LAMB1 laminin subunit beta 1 gene DOID:0050453 lissencephaly ISO RGD:1314859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11897471 LAMB1 laminin subunit beta 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1314859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11897471 LAMB1 laminin subunit beta 1 gene DOID:0112230 lissencephaly 5 ISO RGD:1314859 D RGD:7240710 20180130 OMIM 11897471 LAMB1 laminin subunit beta 1 gene DOID:0112230 lissencephaly 5 ISO RGD:1314859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly 5 PMID:23472759|PMID:25326635|PMID:25741868|PMID:25925986|PMID:28492532 11897471 LAMB1 laminin subunit beta 1 gene DOID:1059 intellectual disability ISO RGD:1314859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11897471 LAMB1 laminin subunit beta 1 gene DOID:12270 coloboma ISO RGD:1314859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18809619 11897471 LAMB1 laminin subunit beta 1 gene DOID:12849 autistic disorder ISO RGD:1314859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15523497 11897471 LAMB1 laminin subunit beta 1 gene DOID:12849 autistic disorder ISO RGD:1314859 D RGD:9068941 20200609 RGD PMID:15523497|REF_RGD_ID:1624317 11897471 LAMB1 laminin subunit beta 1 gene DOID:289 endometriosis ISO RGD:1314859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 11897471 LAMB1 laminin subunit beta 1 gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:1314859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency PMID:25741868|PMID:28492532 11897471 LAMB1 laminin subunit beta 1 gene DOID:3652 Leigh disease ISO RGD:1314859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:28492532 11897471 LAMB1 laminin subunit beta 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1314859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28444932 11897471 LAMB1 laminin subunit beta 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11897471 LAMB1 laminin subunit beta 1 gene DOID:630 genetic disease ISO RGD:1314859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11897471 LAMB1 laminin subunit beta 1 gene DOID:8577 ulcerative colitis ISO RGD:1314859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19915572 11897471 LAMB1 laminin subunit beta 1 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1314859 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:28492532 11897471 LAMB1 laminin subunit beta 1 gene DOID:9269 maple syrup urine disease ISO RGD:1314859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:25741868|PMID:28492532 11897512 RELB RELB proto-oncogene, NF-kB subunit gene DOID:0111992 immunodeficiency 53 ISO RGD:1353567 D RGD:7240710 20190315 OMIM 11897512 RELB RELB proto-oncogene, NF-kB subunit gene DOID:0111992 immunodeficiency 53 ISO RGD:1353567 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency 53 PMID:25741868|PMID:26385063|PMID:28492532 11897512 RELB RELB proto-oncogene, NF-kB subunit gene DOID:11716 prediabetes syndrome ISO RGD:2321078 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic islet PMID:10630383|REF_RGD_ID:7777162 11897512 RELB RELB proto-oncogene, NF-kB subunit gene DOID:1612 breast cancer ISO RGD:1353567 D RGD:9068941 20200609 RGD protein:decreased localization:T cell, nucleus PMID:9724088|REF_RGD_ID:2298697 11897512 RELB RELB proto-oncogene, NF-kB subunit gene DOID:1612 breast cancer ISO RGD:1353567 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:21640702|REF_RGD_ID:7777150 11897512 RELB RELB proto-oncogene, NF-kB subunit gene DOID:2671 transitional cell carcinoma ISO RGD:1353567 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:urinary bladder mucosa, nucleus PMID:12452071|REF_RGD_ID:2300270 11897512 RELB RELB proto-oncogene, NF-kB subunit gene DOID:3310 atopic dermatitis ISO RGD:1558382 D RGD:9068941 20200609 RGD PMID:10940923|REF_RGD_ID:7777149 11897512 RELB RELB proto-oncogene, NF-kB subunit gene DOID:3310 atopic dermatitis ISO RGD:1558382 D RGD:9068941 20220825 MouseDO OMIM:603165 11897512 RELB RELB proto-oncogene, NF-kB subunit gene DOID:5199 ureteral obstruction ISO RGD:2321078 D RGD:9068941 20200609 RGD protein:increased activity:kidney PMID:9328931|REF_RGD_ID:7777163 11897512 RELB RELB proto-oncogene, NF-kB subunit gene DOID:557 kidney disease ISO RGD:2321078 D RGD:9068941 20200609 RGD protein:increased localization: kidney tubule epithelium, nucleus PMID:22017545|REF_RGD_ID:6483553 11897512 RELB RELB proto-oncogene, NF-kB subunit gene DOID:630 genetic disease ISO RGD:1353567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11897512 RELB RELB proto-oncogene, NF-kB subunit gene DOID:767 muscular atrophy ISO RGD:2321078 D RGD:9068941 20200609 RGD protein:decreased localization:soleus, nucleus PMID:11919155|REF_RGD_ID:7777164 11897512 RELB RELB proto-oncogene, NF-kB subunit gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1558382 D RGD:9068941 20200609 RGD PMID:12897145|REF_RGD_ID:2300264 11897512 RELB RELB proto-oncogene, NF-kB subunit gene DOID:9002676 Cerebral Hemorrhage ISO RGD:2321078 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:striatum PMID:17250675|REF_RGD_ID:2302394 11897512 RELB RELB proto-oncogene, NF-kB subunit gene DOID:9004283 Transplant Rejection treatment ISO RGD:2321078 D RGD:9068941 20200609 RGD PMID:23196258|REF_RGD_ID:7777161 11897512 RELB RELB proto-oncogene, NF-kB subunit gene DOID:9004649 Heat Stroke ISO RGD:1353567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 11897512 RELB RELB proto-oncogene, NF-kB subunit gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1558382 D RGD:9068941 20200609 RGD PMID:16260626|REF_RGD_ID:7777148 11897525 BICRAL BICRA like chromatin remodeling complex associated protein gene DOID:0050444 infantile Refsum disease ISO RGD:1313851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11897525 BICRAL BICRA like chromatin remodeling complex associated protein gene DOID:0060041 autism spectrum disorder ISO RGD:1313851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11897525 BICRAL BICRA like chromatin remodeling complex associated protein gene DOID:10283 prostate cancer ISO RGD:1313851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11897525 BICRAL BICRA like chromatin remodeling complex associated protein gene DOID:630 genetic disease ISO RGD:1313851 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897525 BICRAL BICRA like chromatin remodeling complex associated protein gene DOID:905 Zellweger syndrome ISO RGD:1313851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11897550 SOX5 SRY-box transcription factor 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1603322 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11897550 SOX5 SRY-box transcription factor 5 gene DOID:0060224 atrial fibrillation ISO RGD:1603322 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062060 11897550 SOX5 SRY-box transcription factor 5 gene DOID:0070073 autosomal dominant intellectual developmental disorder 43 ISO RGD:1603322 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 43 PMID:25741868 11897550 SOX5 SRY-box transcription factor 5 gene DOID:1059 intellectual disability ISO RGD:1603322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28708303 11897550 SOX5 SRY-box transcription factor 5 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:1603322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tourette syndrome 11897550 SOX5 SRY-box transcription factor 5 gene DOID:540 strabismus ISO RGD:1603322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Strabismus PMID:25741868 11897550 SOX5 SRY-box transcription factor 5 gene DOID:630 genetic disease ISO RGD:1603322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:31578471 11897550 SOX5 SRY-box transcription factor 5 gene DOID:9002383 Lamb-Shaffer Syndrome ISO RGD:1603322 D RGD:7240710 20190315 OMIM 11897550 SOX5 SRY-box transcription factor 5 gene DOID:9002383 Lamb-Shaffer Syndrome ISO RGD:1603322 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lamb-Shaffer syndrome PMID:22290657|PMID:23220431|PMID:23498568|PMID:25741868|PMID:26111154|PMID:28708303|PMID:31578471|PMID:32165824 11897550 SOX5 SRY-box transcription factor 5 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1603322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 11897550 SOX5 SRY-box transcription factor 5 gene DOID:9005603 Muscle Hypotonia ISO RGD:1603322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868 11897550 SOX5 SRY-box transcription factor 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1603322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11897550 SOX5 SRY-box transcription factor 5 gene DOID:9008582 Developmental Disease ISO RGD:1603322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:0001816 angiosarcoma ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:0001816 angiosarcoma ISO RGD:731438 D RGD:9068941 20220310 RGD associated with neoplasms, radiation-induced; DNA:amplification: (human) PMID:26440310|REF_RGD_ID:151665099 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27356265 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:0050855 renal fibrosis ISO RGD:10940 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction; protein:increased expression:kidney (mouse) PMID:19297557|REF_RGD_ID:7207450 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:0050902 medulloblastoma ISO RGD:731438 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:19270706|PMID:31694585 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:0050908 myelodysplastic syndrome ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10914558 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:731438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:25157968|PMID:26619011 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:0060318 acute promyelocytic leukemia ISO RGD:731438 D RGD:9068941 20200609 RGD mRNA:increased expression:promyelocyte: PMID:21059853|REF_RGD_ID:11532756 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:0060318 acute promyelocytic leukemia onset ISO RGD:731438 D RGD:9068941 20200609 RGD PMID:21059853|REF_RGD_ID:11532756 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:0080322 polycystic kidney disease ISO RGD:10940 D RGD:9068941 20200609 RGD PMID:9422539|REF_RGD_ID:7207451 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:0080322 polycystic kidney disease ISO RGD:3130 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:21119215|REF_RGD_ID:7207426 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:0080600 COVID-19 ISO RGD:731438 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:10940 D RGD:9068941 20200609 RGD PMID:22120021|REF_RGD_ID:7207416 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:0110858 polycystic kidney disease 1 ISO RGD:10940 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (mouse) PMID:16449663|REF_RGD_ID:7207779 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:0110858 polycystic kidney disease 1 ISO RGD:731438 D RGD:9068941 20200609 RGD mRNA:increased expression:renal cortex (human) PMID:19346236|REF_RGD_ID:7207447 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:10940 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (mouse) PMID:3479800|REF_RGD_ID:7207453 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:10283 prostate cancer severity ISO RGD:731438 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland (human) PMID:20140016|REF_RGD_ID:7240541 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:10283 prostate cancer susceptibility ISO RGD:731438 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS1-355T>A rs3891248 (human) PMID:18483343|REF_RGD_ID:7207432 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:1040 chronic lymphocytic leukemia disease_progression ISO RGD:731438 D RGD:9068941 20200609 RGD PMID:20956327|REF_RGD_ID:11340590 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:10964 cholesteatoma of middle ear ISO RGD:731438 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cholesteatoma of middle ear PMID:27993330|PMID:8220424 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:11054 urinary bladder cancer ISO RGD:10940 D RGD:9068941 20200609 RGD PMID:22028816|REF_RGD_ID:7207418 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:11054 urinary bladder cancer ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2228319 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:731438 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder urothelium (human) PMID:20939013|REF_RGD_ID:7207427 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:731438 D RGD:9068941 20200609 RGD DNA:snp, haplotype:enhancer:g.-30772G>T rs9642880 (human) PMID:23284801|REF_RGD_ID:7207401 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:1107 esophageal carcinoma ISO RGD:731438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:25157968|PMID:26619011 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:11132 prostatic hypertrophy treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:22684563|REF_RGD_ID:7240520 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:11476 osteoporosis ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:22704852|REF_RGD_ID:7240519 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22000973 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:127 leiomyoma treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:22302692|REF_RGD_ID:6483544 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:1324 lung cancer treatment ISO RGD:731438 D RGD:9068941 20211210 RGD human cells in mouse model PMID:32051824|REF_RGD_ID:150530284 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:13543 hyperparathyroidism ISO RGD:731438 D RGD:9068941 20200609 RGD mRNA:increased expression:parathyroid gland (human) PMID:17047023|REF_RGD_ID:7207778 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:14566 disease of cellular proliferation ISO RGD:731438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:25157968|PMID:26619011|PMID:8220424 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:731438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:1612 breast cancer ISO RGD:10940 D RGD:9068941 20220825 MouseDO OMIM:114480 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:1612 breast cancer ISO RGD:3130 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland (rat) PMID:22614519|REF_RGD_ID:7241002 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:1612 breast cancer severity ISO RGD:731438 D RGD:9068941 20200609 RGD DNA:amplification:exon (human) PMID:10706127|REF_RGD_ID:7207838 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:171 neuroectodermal tumor ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8761367 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:1749 squamous cell carcinoma ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:1781 thyroid gland cancer ISO RGD:10940 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid (mouse) PMID:25246276|REF_RGD_ID:13825129 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:1793 pancreatic cancer ISO RGD:10940 D RGD:9068941 20200609 RGD PMID:22024988|REF_RGD_ID:7240699 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:1793 pancreatic cancer ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25961927 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:1883 hepatitis C ISO RGD:731438 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver PMID:23108410|REF_RGD_ID:14695017 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:1936 atherosclerosis treatment ISO RGD:10940 D RGD:9068941 20230330 RGD PMID:35854140|REF_RGD_ID:242905195 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:2154 nephroblastoma ISO RGD:10940 D RGD:9068941 20200609 RGD protein:increased expression:kidney (mouse) PMID:21983638|REF_RGD_ID:7207786 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:2154 nephroblastoma severity ISO RGD:731438 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor (human) PMID:18260125|REF_RGD_ID:7207840 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:2526 prostate adenocarcinoma ISO RGD:731438 D RGD:9068941 20200609 RGD human gene in mouse model PMID:14522256|PMID:20195545|REF_RGD_ID:7207413|REF_RGD_ID:7207781 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:299 adenocarcinoma ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:3021 acute kidney failure susceptibility ISO RGD:10940 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:kidney (mouse) PMID:23228991|REF_RGD_ID:7207407 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:305 carcinoma ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2228319 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:3068 glioblastoma ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:3213 demyelinating disease treatment ISO RGD:731438 D RGD:9068941 20200609 RGD human gene in rat model; DNA:missense mutation:cds:p.T58A (human) PMID:22076651|REF_RGD_ID:7240694 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:3347 osteosarcoma ISO RGD:731438 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:24646477|PMID:34508303 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:3672 rhabdoid cancer ISO RGD:731438 D RGD:9068941 20200609 RGD protein:increased expression:kidney (human) PMID:20212451|REF_RGD_ID:7207430 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:3908 lung non-small cell carcinoma ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24688052 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:3910 lung adenocarcinoma ISO RGD:731438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:25157968|PMID:26619011 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:3965 Merkel cell carcinoma ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25277525 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:731438 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid PMID:28677753|REF_RGD_ID:13792605 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:4247 coronary restenosis treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:7955204|REF_RGD_ID:10059621 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:4450 renal cell carcinoma ISO RGD:3130 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:18055543|REF_RGD_ID:7207841 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:4450 renal cell carcinoma ISO RGD:731438 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (human) PMID:21982273|REF_RGD_ID:7207793 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:4467 clear cell renal cell carcinoma severity ISO RGD:731438 D RGD:9068941 20200609 RGD protein:increased expression:kidney (human) PMID:21881486|REF_RGD_ID:7207420 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:4905 pancreatic carcinoma ISO RGD:10940 D RGD:9068941 20220825 MouseDO OMIM:260350 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:5082 liver cirrhosis ISO RGD:10940 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver PMID:23770341|REF_RGD_ID:14695015 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:5082 liver cirrhosis ISO RGD:731438 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver PMID:23770341|REF_RGD_ID:14695015 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:5394 prolactinoma ISO RGD:3130 D RGD:9068941 20200609 RGD mRNA:increased expression:pituitary gland (rat) PMID:22635680|REF_RGD_ID:7240531 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:10940 D RGD:9068941 20200609 RGD PMID:28089889|REF_RGD_ID:13793389 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:5426 primary ovarian insufficiency ISO RGD:731438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:630 genetic disease ISO RGD:731438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:6432 pulmonary hypertension treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:22306243|REF_RGD_ID:7240564 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:674 cleft palate ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24859337 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:684 hepatocellular carcinoma ISO RGD:10940 D RGD:9068941 20200609 RGD PMID:21644509|REF_RGD_ID:6903288 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:684 hepatocellular carcinoma ISO RGD:10940 D RGD:9068941 20220825 MouseDO OMIM:114550 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:684 hepatocellular carcinoma ISO RGD:3130 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:22076107|REF_RGD_ID:7240695 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:684 hepatocellular carcinoma ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12029619|PMID:15565109|PMID:29698666|PMID:9029167 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:684 hepatocellular carcinoma severity ISO RGD:731438 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:22434528|REF_RGD_ID:7241004 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:684 hepatocellular carcinoma treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:22129741|REF_RGD_ID:7240567 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:769 neuroblastoma ISO RGD:731438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:25157968|PMID:26619011 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:8567 Hodgkin's lymphoma ISO RGD:731438 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Classic Hodgkin lymphoma PMID:32934698 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:8584 Burkitt lymphoma ISO RGD:731438 D RGD:7240710 20180130 OMIM 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:8584 Burkitt lymphoma ISO RGD:731438 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Burkitt lymphoma PMID:25157968|PMID:27993330|PMID:8220424 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:8634 prostate carcinoma in situ ISO RGD:10940 D RGD:9068941 20200609 RGD PMID:10861747|REF_RGD_ID:10059615 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:8923 skin melanoma ISO RGD:731438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:25157968|PMID:26619011 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:10940 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (mouse) PMID:18356167|REF_RGD_ID:7207457 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:10940 D RGD:9068941 20220825 MouseDO 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25877301 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9000117 Esophageal Neoplasms treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:22844359|REF_RGD_ID:7207890 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9000217 Stomach Neoplasms ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17171786|PMID:21173787 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9000918 Disease Progression ISO RGD:731438 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:22321834|PMID:28191284|PMID:34510316|PMID:34626302 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22321834 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9001285 Alcoholic Liver Diseases disease_progression ISO RGD:731438 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:26576483|REF_RGD_ID:14695016 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9001285 Alcoholic Liver Diseases severity ISO RGD:10940 D RGD:9068941 20200609 RGD PMID:26576483|REF_RGD_ID:14695016 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:3130 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:3335218|REF_RGD_ID:10059623 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11280770|PMID:18560566|PMID:9079223 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:22113495|REF_RGD_ID:7240568 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:731438 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:17173048|PMID:23704919|PMID:29295717|PMID:32512071 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9002762 Ovarian Neoplasms ISO RGD:731438 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:20852632|PMID:34510316 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9002928 Colonic Neoplasms ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189186|PMID:15059925|PMID:18283038|PMID:21081470 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:22641368|REF_RGD_ID:7240527 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9003936 Cardiomegaly treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:22000973|REF_RGD_ID:7240700 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9004203 Chromosome Breakage ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25933419 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9004283 Transplant Rejection ISO RGD:3130 D RGD:9068941 20200609 RGD cornea PMID:22149555|REF_RGD_ID:7240566 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472269 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9005100 Aberrant Crypt Foci treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:8449605|REF_RGD_ID:13432056 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9005172 Lung Neoplasms ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16289808|PMID:28191284 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:10940 D RGD:9068941 20200609 RGD PMID:22384017|REF_RGD_ID:7240549 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3130 D RGD:9068941 20200609 RGD mRNA:increased expression:renal cortex (rat) PMID:18030501|REF_RGD_ID:7207459 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9006182 Carotid Artery Injuries ISO RGD:3130 D RGD:9068941 20200609 RGD mRNA:increased expression:carotid artery (rat) PMID:22546228|REF_RGD_ID:7240535 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9006182 Carotid Artery Injuries treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:23178522|PMID:8113414|REF_RGD_ID:10059612|REF_RGD_ID:7207861 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9006205 Animal Disease Models ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:3130 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:17220792|REF_RGD_ID:7207777 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:22503847|REF_RGD_ID:7240537 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9007188 Liver Neoplasms ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11532874|PMID:8807143 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12115494|PMID:2543982|PMID:29626521|PMID:31504995 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9007715 Endometrial Neoplasms ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26656844 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:731438 D RGD:9068941 20200609 RGD mRNA:increased expression:renal cortex (human) PMID:19384955|REF_RGD_ID:7240562 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma severity ISO RGD:731438 D RGD:9068941 20200609 RGD protein:increased expression:kidney (human) PMID:17409424|REF_RGD_ID:7240563 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9008138 Ductal Carcinoma ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29295717 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9008443 Colorectal Neoplasms ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9008691 Liver Injury ISO RGD:3130 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:21986297|REF_RGD_ID:7240702 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9008939 Breast Neoplasms ISO RGD:10940 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland (mouse) PMID:20820192|REF_RGD_ID:7207428 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9008939 Breast Neoplasms treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:22439659|REF_RGD_ID:7241009 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9119 acute myeloid leukemia ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25956709 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9296 cleft lip ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24859337 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9452 fatty liver disease ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24210820 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:731438 D RGD:9068941 20200609 RGD PMID:25784651|REF_RGD_ID:11532748 11897599 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9970 obesity ISO RGD:3130 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreas (rat) PMID:22421529|REF_RGD_ID:7240547 11897644 CAPN11 calpain 11 gene DOID:630 genetic disease ISO RGD:1342957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897689 SCIMP SLP adaptor and CSK interacting membrane protein gene DOID:0080600 COVID-19 ISO RGD:1604451 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11897689 SCIMP SLP adaptor and CSK interacting membrane protein gene DOID:11934 head and neck cancer ISO RGD:1604451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Head and neck cancer PMID:32266149 11897689 SCIMP SLP adaptor and CSK interacting membrane protein gene DOID:630 genetic disease ISO RGD:1604451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897700 CREB3L1 cAMP responsive element binding protein 3 like 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1342471 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 11897700 CREB3L1 cAMP responsive element binding protein 3 like 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1342471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11897700 CREB3L1 cAMP responsive element binding protein 3 like 1 gene DOID:0110345 osteogenesis imperfecta type 16 ISO RGD:1342471 D RGD:7240710 20190315 OMIM 11897700 CREB3L1 cAMP responsive element binding protein 3 like 1 gene DOID:0110345 osteogenesis imperfecta type 16 ISO RGD:1342471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 16 PMID:24033266|PMID:25741868|PMID:28492532|PMID:29936144|PMID:30657919 11897700 CREB3L1 cAMP responsive element binding protein 3 like 1 gene DOID:1059 intellectual disability ISO RGD:1342471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11897700 CREB3L1 cAMP responsive element binding protein 3 like 1 gene DOID:3307 teratoma ISO RGD:1342471 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Teratoma 11897700 CREB3L1 cAMP responsive element binding protein 3 like 1 gene DOID:630 genetic disease ISO RGD:1342471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11897700 CREB3L1 cAMP responsive element binding protein 3 like 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1342471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11897700 CREB3L1 cAMP responsive element binding protein 3 like 1 gene DOID:905 Zellweger syndrome ISO RGD:1342471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 11897719 KLK9 kallikrein related peptidase 9 gene DOID:630 genetic disease ISO RGD:1317964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897729 CRISP3 cysteine rich secretory protein 3 gene DOID:0060329 ectopic pregnancy ISO RGD:1352578 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19282327 11897729 CRISP3 cysteine rich secretory protein 3 gene DOID:630 genetic disease ISO RGD:1352578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897729 CRISP3 cysteine rich secretory protein 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:1352578 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11897764 DUSP3 dual specificity phosphatase 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 11897764 DUSP3 dual specificity phosphatase 3 gene DOID:630 genetic disease ISO RGD:1345861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897775 C11H11orf42 chromosome 11 C11orf42 homolog gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1602976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11897775 C11H11orf42 chromosome 11 C11orf42 homolog gene DOID:630 genetic disease ISO RGD:1602976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897817 ZNF783 zinc finger protein 783 gene DOID:630 genetic disease ISO RGD:4140607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897843 DPYSL4 dihydropyrimidinase like 4 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:737533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11897843 DPYSL4 dihydropyrimidinase like 4 gene DOID:630 genetic disease ISO RGD:737533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897860 ADD1 adducin 1 gene DOID:10591 pre-eclampsia ISO RGD:733925 D RGD:9068941 20200609 RGD mRNA:increased expression:blood PMID:19731222|REF_RGD_ID:5147993 11897860 ADD1 adducin 1 gene DOID:10763 hypertension ISO RGD:2041 D RGD:9068941 20200609 RGD PMID:15474463|PMID:8543181|REF_RGD_ID:1302895|REF_RGD_ID:631736 11897860 ADD1 adducin 1 gene DOID:10763 hypertension ISO RGD:733925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15773232|PMID:19199261 11897860 ADD1 adducin 1 gene DOID:10763 hypertension ISO RGD:733925 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.G460W (human) PMID:9149697|REF_RGD_ID:1624953 11897860 ADD1 adducin 1 gene DOID:10825 essential hypertension ISO RGD:733925 D RGD:7240710 20180130 OMIM 11897860 ADD1 adducin 1 gene DOID:10825 essential hypertension ISO RGD:733925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertension, salt-sensitive essential, susceptibility to PMID:10024330|PMID:10523341|PMID:11882573|PMID:12623934|PMID:14553962|PMID:18591455|PMID:19057513|PMID:22992668|PMID:23863317|PMID:9149697|PMID:9607177 11897860 ADD1 adducin 1 gene DOID:10908 hydrocephalus ISO RGD:10086 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 11897860 ADD1 adducin 1 gene DOID:11044 gastroschisis ISO RGD:733925 D RGD:9068941 20200609 RGD DNA:SNP: :p.G460W (human) PMID:17051589|REF_RGD_ID:5148000 11897860 ADD1 adducin 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:733925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 11897860 ADD1 adducin 1 gene DOID:13809 familial combined hyperlipidemia ISO RGD:733925 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.Gly460Trp (human) PMID:11775124|REF_RGD_ID:1559299 11897860 ADD1 adducin 1 gene DOID:1856 cherubism ISO RGD:733925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11897860 ADD1 adducin 1 gene DOID:1936 atherosclerosis ISO RGD:733925 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G460W (human) PMID:17082469|REF_RGD_ID:5147995 11897860 ADD1 adducin 1 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:733925 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:rs4961(human) PMID:19838659|REF_RGD_ID:7174725 11897860 ADD1 adducin 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:2041 D RGD:9068941 20200609 RGD protein:decreased expression:forebrain, postsynaptic density PMID:11226670|REF_RGD_ID:5147998 11897860 ADD1 adducin 1 gene DOID:5844 myocardial infarction ISO RGD:733925 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G460W (human) PMID:17082469|REF_RGD_ID:5147995 11897860 ADD1 adducin 1 gene DOID:5844 myocardial infarction no_association ISO RGD:733925 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G460W (human) PMID:16420563|REF_RGD_ID:5148001 11897860 ADD1 adducin 1 gene DOID:630 genetic disease ISO RGD:733925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897860 ADD1 adducin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 11897860 ADD1 adducin 1 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:733925 D RGD:9068941 20200609 RGD DNA:SNP: :p.G460W (human) PMID:16100725|REF_RGD_ID:5147996 11897860 ADD1 adducin 1 gene DOID:9008366 Meningococcal Infections ISO RGD:733925 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G460W (human) PMID:18679149|REF_RGD_ID:5147999 11897860 ADD1 adducin 1 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:733925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 11897894 DIPK2A divergent protein kinase domain 2A gene DOID:0060041 autism spectrum disorder ISO RGD:1603352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21283809 11897894 DIPK2A divergent protein kinase domain 2A gene DOID:12849 autistic disorder ISO RGD:1603352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18621663 11897894 DIPK2A divergent protein kinase domain 2A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11897901 AADACL4 arylacetamide deacetylase like 4 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603850 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11897901 AADACL4 arylacetamide deacetylase like 4 gene DOID:630 genetic disease ISO RGD:1603850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897909 FMO5 flavin containing dimethylaniline monoxygenase 5 gene DOID:0060041 autism spectrum disorder ISO RGD:733168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 11897909 FMO5 flavin containing dimethylaniline monoxygenase 5 gene DOID:0060411 chromosome 1q21.1 deletion syndrome ISO RGD:733168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome 11897909 FMO5 flavin containing dimethylaniline monoxygenase 5 gene DOID:0060435 chromosome 1q21.1 duplication syndrome ISO RGD:733168 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome 11897909 FMO5 flavin containing dimethylaniline monoxygenase 5 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:733168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 11897909 FMO5 flavin containing dimethylaniline monoxygenase 5 gene DOID:1540 parathyroid carcinoma ISO RGD:733168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11897909 FMO5 flavin containing dimethylaniline monoxygenase 5 gene DOID:5419 schizophrenia ISO RGD:733168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11897909 FMO5 flavin containing dimethylaniline monoxygenase 5 gene DOID:630 genetic disease ISO RGD:733168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897909 FMO5 flavin containing dimethylaniline monoxygenase 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11897909 FMO5 flavin containing dimethylaniline monoxygenase 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11897931 PLEK2 pleckstrin 2 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1314027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 11897931 PLEK2 pleckstrin 2 gene DOID:630 genetic disease ISO RGD:1314027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897931 PLEK2 pleckstrin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11897945 MIPOL1 mirror-image polydactyly 1 gene DOID:1148 polydactyly ISO RGD:1344580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11954550 11897945 MIPOL1 mirror-image polydactyly 1 gene DOID:12859 choreatic disease ISO RGD:1344580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign hereditary chorea PMID:11971878 11897945 MIPOL1 mirror-image polydactyly 1 gene DOID:630 genetic disease ISO RGD:1344580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897945 MIPOL1 mirror-image polydactyly 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1344580 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11897986 ATG2B autophagy related 2B gene DOID:0070004 myeloid neoplasm ISO RGD:1312572 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26280900 11897986 ATG2B autophagy related 2B gene DOID:2224 essential thrombocythemia ISO RGD:1312572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 11897986 ATG2B autophagy related 2B gene DOID:4971 myelofibrosis ISO RGD:1312572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis 11897986 ATG2B autophagy related 2B gene DOID:630 genetic disease ISO RGD:1312572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11897986 ATG2B autophagy related 2B gene DOID:8692 myeloid leukemia ISO RGD:1312572 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26280900 11897986 ATG2B autophagy related 2B gene DOID:9119 acute myeloid leukemia ISO RGD:1312572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 11898037 ANGPTL2 angiopoietin like 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11898037 ANGPTL2 angiopoietin like 2 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:733949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11898037 ANGPTL2 angiopoietin like 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11898037 ANGPTL2 angiopoietin like 2 gene DOID:10223 dermatomyositis ISO RGD:733950 D RGD:9068941 20220825 MouseDO 11898037 ANGPTL2 angiopoietin like 2 gene DOID:630 genetic disease ISO RGD:733949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11898051 DNER delta/notch like EGF repeat containing gene DOID:630 genetic disease ISO RGD:1605895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11898067 CRELD2 cysteine rich with EGF like domains 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1603954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 11898067 CRELD2 cysteine rich with EGF like domains 2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1603954 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 11898067 CRELD2 cysteine rich with EGF like domains 2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1603954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11898067 CRELD2 cysteine rich with EGF like domains 2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1603954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 11898067 CRELD2 cysteine rich with EGF like domains 2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1603954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 11898067 CRELD2 cysteine rich with EGF like domains 2 gene DOID:1059 intellectual disability ISO RGD:1603954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11898067 CRELD2 cysteine rich with EGF like domains 2 gene DOID:630 genetic disease ISO RGD:1603954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11898081 SOCS5 suppressor of cytokine signaling 5 gene DOID:3883 Lynch syndrome ISO RGD:1346055 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11898081 SOCS5 suppressor of cytokine signaling 5 gene DOID:630 genetic disease ISO RGD:1346055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11898090 LOC100978317 phosphatidylinositide phosphatase SAC2 gene DOID:630 genetic disease ISO RGD:1314013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11898122 HEPHL1 hephaestin like 1 gene DOID:1059 intellectual disability ISO RGD:1345614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11898122 HEPHL1 hephaestin like 1 gene DOID:630 genetic disease ISO RGD:1345614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11898122 HEPHL1 hephaestin like 1 gene DOID:9001311 Lichen Planus Follicularis ISO RGD:1345614 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Lichen planus follicularis 11898122 HEPHL1 hephaestin like 1 gene DOID:9001704 Pili Torti, Developmental Delay, Neurological Abnormalities ISO RGD:1345614 D RGD:7240710 20201202 OMIM 11898122 HEPHL1 hephaestin like 1 gene DOID:9001704 Pili Torti, Developmental Delay, Neurological Abnormalities ISO RGD:1345614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pili torti and developmental delay PMID:25741868|PMID:31125343 11898146 RUNX1T1 RUNX1 partner transcriptional co-repressor 1 gene DOID:5409 lung small cell carcinoma ISO RGD:1350261 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 11898146 RUNX1T1 RUNX1 partner transcriptional co-repressor 1 gene DOID:630 genetic disease ISO RGD:1350261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11898146 RUNX1T1 RUNX1 partner transcriptional co-repressor 1 gene DOID:9007661 Dwarfism ISO RGD:1350261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11898146 RUNX1T1 RUNX1 partner transcriptional co-repressor 1 gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:1350261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 11898146 RUNX1T1 RUNX1 partner transcriptional co-repressor 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1350261 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229|PMID:27798625 11898175 HARBI1 harbinger transposase derived 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1601808 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11898175 HARBI1 harbinger transposase derived 1 gene DOID:1059 intellectual disability ISO RGD:1601808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11898175 HARBI1 harbinger transposase derived 1 gene DOID:630 genetic disease ISO RGD:1601808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11898175 HARBI1 harbinger transposase derived 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1601808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11898188 B3GAT1 beta-1,3-glucuronyltransferase 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:733365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24211274 11898188 B3GAT1 beta-1,3-glucuronyltransferase 1 gene DOID:0080600 COVID-19 ISO RGD:733365 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11898188 B3GAT1 beta-1,3-glucuronyltransferase 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:733365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11898188 B3GAT1 beta-1,3-glucuronyltransferase 1 gene DOID:3770 pulmonary fibrosis ISO RGD:70880 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:24127863|REF_RGD_ID:14390076 11898188 B3GAT1 beta-1,3-glucuronyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:733365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11898188 B3GAT1 beta-1,3-glucuronyltransferase 1 gene DOID:630 genetic disease ISO RGD:733365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11898188 B3GAT1 beta-1,3-glucuronyltransferase 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11898188 B3GAT1 beta-1,3-glucuronyltransferase 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:733365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11898206 BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:1059 intellectual disability ISO RGD:734102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11898206 BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:1339 Diamond-Blackfan anemia ISO RGD:734102 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11898206 BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:1342 congenital hypoplastic anemia ISO RGD:734102 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11898206 BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:2340 craniosynostosis ISO RGD:734102 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11898206 BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:630 genetic disease ISO RGD:734102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11507102|PMID:11825067|PMID:12888983|PMID:1356170|PMID:14517957|PMID:14567968|PMID:16468966|PMID:16472748|PMID:16786533|PMID:1682165|PMID:17329260|PMID:17922217|PMID:1867199|PMID:1885764|PMID:1943689|PMID:20136525|PMID:20301495|PMID:21098507|PMID:2241958|PMID:22593002|PMID:22727569|PMID:25333063|PMID:25741868|PMID:26257134|PMID:26830710|PMID:2703538|PMID:28170084|PMID:28492532|PMID:31980395|PMID:31998365|PMID:32812330|PMID:33300147|PMID:8037208|PMID:9582350 11898206 BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:734102 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11898206 BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2196 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:9460082|REF_RGD_ID:1599467 11898206 BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:9008834 Maple Syrup Urine Disease, Type 1A ISO RGD:734102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease type 1A PMID:10694918|PMID:10745006|PMID:11069910|PMID:11507102|PMID:11825067|PMID:12888983|PMID:1356170|PMID:14517957|PMID:14567968|PMID:14742428|PMID:16199547|PMID:16468966|PMID:16472748|PMID:16786533|PMID:1682165|PMID:17329260|PMID:17576681|PMID:17922217|PMID:18378174|PMID:1867199|PMID:1885764|PMID:1943689|PMID:19456321|PMID:19480318|PMID:19715473|PMID:20136525|PMID:20301495|PMID:20431954|PMID:20852892|PMID:21098507|PMID:21228398|PMID:21844576|PMID:2241958|PMID:22593002|PMID:22727569|PMID:23765052|PMID:24374108|PMID:25087612|PMID:25255367|PMID:25333063|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26786177|PMID:26830710|PMID:26901124|PMID:2703538|PMID:27403441|PMID:28170084|PMID:28417071|PMID:28492532|PMID:29306928|PMID:29740775|PMID:31112740|PMID:31119508|PMID:31523617|PMID:31980395|PMID:31998365|PMID:32193832|PMID:32812330|PMID:33300147|PMID:7883996|PMID:8037208|PMID:8161368|PMID:9536098|PMID:9582350 11898206 BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:9269 maple syrup urine disease ISO RGD:734102 D RGD:7240710 20180130 OMIM 11898206 BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:9269 maple syrup urine disease ISO RGD:734102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant PMID:10694918|PMID:10745006|PMID:11069910|PMID:11448970|PMID:11507102|PMID:11825067|PMID:12888983|PMID:1356170|PMID:14517957|PMID:14567968|PMID:16199547|PMID:16468966|PMID:16786533|PMID:1682165|PMID:17576681|PMID:17922217|PMID:18378174|PMID:1867199|PMID:1885764|PMID:1943689|PMID:19456321|PMID:19480318|PMID:19715473|PMID:20136525|PMID:20431954|PMID:20852892|PMID:21098507|PMID:21228398|PMID:21844576|PMID:22145486|PMID:2241958|PMID:22593002|PMID:22727569|PMID:23757202|PMID:23765052|PMID:24033266|PMID:24374108|PMID:24772966|PMID:25087612|PMID:25255367|PMID:25333063|PMID:25525159|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26786177|PMID:26830710|PMID:26901124|PMID:26937410|PMID:2703538|PMID:27403441|PMID:28170084|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29740775|PMID:31112740|PMID:31119508|PMID:31523617|PMID:31980395|PMID:32193832|PMID:7883996|PMID:8037208|PMID:8161368|PMID:9536098|PMID:9582350 11898206 BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:9269 maple syrup urine disease ISO RGD:734102 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant PMID:10694918|PMID:10745006|PMID:11069910|PMID:11448970|PMID:11507102|PMID:11825067|PMID:12888983|PMID:1356170|PMID:14517957|PMID:14567968|PMID:16199547|PMID:16468966|PMID:16786533|PMID:1682165|PMID:17576681|PMID:17922217|PMID:18378174|PMID:1867199|PMID:1885764|PMID:1943689|PMID:19456321|PMID:19480318|PMID:19715473|PMID:20136525|PMID:20431954|PMID:20852892|PMID:21098507|PMID:21228398|PMID:21844576|PMID:22145486|PMID:2241958|PMID:22593002|PMID:22727569|PMID:23757202|PMID:23765052|PMID:24033266|PMID:24374108|PMID:24772966|PMID:25087612|PMID:25255367|PMID:25333063|PMID:25525159|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26786177|PMID:26830710|PMID:26901124|PMID:2703538|PMID:27403441|PMID:28170084|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29740775|PMID:31112740|PMID:31119508|PMID:31980395|PMID:32193832|PMID:7883996|PMID:8037208|PMID:8161368|PMID:9536098|PMID:9582350 11898206 BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:9269 maple syrup urine disease ISO RGD:734102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency | ClinVar Annotator: match by term: Maple syrup urine disease PMID:10694918|PMID:10745006|PMID:11069910|PMID:11448970|PMID:11507102|PMID:11825067|PMID:12888983|PMID:1356170|PMID:14517957|PMID:14567968|PMID:14742428|PMID:16199547|PMID:16468966|PMID:16472748|PMID:16786533|PMID:1682165|PMID:17329260|PMID:17576681|PMID:17922217|PMID:18378174|PMID:1867199|PMID:1885764|PMID:1943689|PMID:19456321|PMID:19480318|PMID:19715473|PMID:19763152|PMID:20136525|PMID:20301495|PMID:20307669|PMID:20431954|PMID:20852892|PMID:21098507|PMID:21228398|PMID:21844576|PMID:22145486|PMID:22406018|PMID:2241958|PMID:22593002|PMID:22727569|PMID:23757202|PMID:23765052|PMID:24033266|PMID:24374108|PMID:24772966|PMID:25087612|PMID:25255367|PMID:25333063|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26453840|PMID:26786177|PMID:26830710|PMID:26901124|PMID:26937410|PMID:2703538|PMID:27403441|PMID:28170084|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29740775|PMID:30228974|PMID:31112740|PMID:31119508|PMID:31523617|PMID:31980395|PMID:31998365|PMID:32005694|PMID:32193832|PMID:32812330|PMID:33300147|PMID:34556729|PMID:7883996|PMID:8037208|PMID:8161368|PMID:9536098|PMID:9582350 11898230 AMOTL1 angiomotin like 1 gene DOID:1059 intellectual disability ISO RGD:1313196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11898230 AMOTL1 angiomotin like 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1313196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11898230 AMOTL1 angiomotin like 1 gene DOID:3070 high grade glioma ISO RGD:1313196 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34480788 11898230 AMOTL1 angiomotin like 1 gene DOID:630 genetic disease ISO RGD:1313196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11898230 AMOTL1 angiomotin like 1 gene DOID:9000918 Disease Progression ISO RGD:1313196 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34480788 11898230 AMOTL1 angiomotin like 1 gene DOID:9003133 Hypertelorism ISO RGD:1313196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868|PMID:28492532|PMID:33026150 11898230 AMOTL1 angiomotin like 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1313196 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34480788 11898254 CHRNA9 cholinergic receptor nicotinic alpha 9 subunit gene DOID:5409 lung small cell carcinoma susceptibility ISO RGD:733287 D RGD:9068941 20220128 RGD DNA:SNPs:multiples: PMID:22280835|REF_RGD_ID:151347453 11898254 CHRNA9 cholinergic receptor nicotinic alpha 9 subunit gene DOID:630 genetic disease ISO RGD:733287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11898254 CHRNA9 cholinergic receptor nicotinic alpha 9 subunit gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:733287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 11898254 CHRNA9 cholinergic receptor nicotinic alpha 9 subunit gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733287 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30259641 11898263 FBXW5 F-box and WD repeat domain containing 5 gene DOID:0050777 Joubert syndrome ISO RGD:1313822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11898263 FBXW5 F-box and WD repeat domain containing 5 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1313822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11898263 FBXW5 F-box and WD repeat domain containing 5 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1313822 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11898263 FBXW5 F-box and WD repeat domain containing 5 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1313822 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11898263 FBXW5 F-box and WD repeat domain containing 5 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1313822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11898263 FBXW5 F-box and WD repeat domain containing 5 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1313822 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11898263 FBXW5 F-box and WD repeat domain containing 5 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1313822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 11898263 FBXW5 F-box and WD repeat domain containing 5 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1313822 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11898263 FBXW5 F-box and WD repeat domain containing 5 gene DOID:0081097 Rafiq syndrome ISO RGD:1313822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11898263 FBXW5 F-box and WD repeat domain containing 5 gene DOID:1826 epilepsy ISO RGD:1313822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11898263 FBXW5 F-box and WD repeat domain containing 5 gene DOID:3652 Leigh disease ISO RGD:1313822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11898263 FBXW5 F-box and WD repeat domain containing 5 gene DOID:630 genetic disease ISO RGD:1313822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11898263 FBXW5 F-box and WD repeat domain containing 5 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1313822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11898276 KCTD11 potassium channel tetramerization domain containing 11 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1316133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11898276 KCTD11 potassium channel tetramerization domain containing 11 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1316133 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11898276 KCTD11 potassium channel tetramerization domain containing 11 gene DOID:1059 intellectual disability ISO RGD:1316133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11898276 KCTD11 potassium channel tetramerization domain containing 11 gene DOID:12177 common variable immunodeficiency ISO RGD:1316133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11898276 KCTD11 potassium channel tetramerization domain containing 11 gene DOID:2729 dyskeratosis congenita ISO RGD:1316133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11898276 KCTD11 potassium channel tetramerization domain containing 11 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1316133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11898276 KCTD11 potassium channel tetramerization domain containing 11 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1316133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 11898276 KCTD11 potassium channel tetramerization domain containing 11 gene DOID:630 genetic disease ISO RGD:1316133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11898287 ATF1 activating transcription factor 1 gene DOID:0080322 polycystic kidney disease ISO RGD:1307360 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:19924104|REF_RGD_ID:2316104 11898287 ATF1 activating transcription factor 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1316513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11898287 ATF1 activating transcription factor 1 gene DOID:630 genetic disease ISO RGD:1316513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11898301 SYNCRIP synaptotagmin binding cytoplasmic RNA interacting protein gene DOID:0060041 autism spectrum disorder ISO RGD:1313857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11898301 SYNCRIP synaptotagmin binding cytoplasmic RNA interacting protein gene DOID:1059 intellectual disability ISO RGD:1313857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11898301 SYNCRIP synaptotagmin binding cytoplasmic RNA interacting protein gene DOID:1240 leukemia ISO RGD:1313857 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28436985 11898301 SYNCRIP synaptotagmin binding cytoplasmic RNA interacting protein gene DOID:630 genetic disease ISO RGD:1313857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11898334 PSD pleckstrin and Sec7 domain containing gene DOID:630 genetic disease ISO RGD:733797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11898356 ASRGL1 asparaginase and isoaspartyl peptidase 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1343525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11898356 ASRGL1 asparaginase and isoaspartyl peptidase 1 gene DOID:1059 intellectual disability ISO RGD:1343525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11898356 ASRGL1 asparaginase and isoaspartyl peptidase 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1343525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 11898356 ASRGL1 asparaginase and isoaspartyl peptidase 1 gene DOID:630 genetic disease ISO RGD:1343525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11898374 GSPT1 G1 to S phase transition 1 gene DOID:5419 schizophrenia ISO RGD:1344503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11898374 GSPT1 G1 to S phase transition 1 gene DOID:630 genetic disease ISO RGD:1344503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11898396 RMDN1 regulator of microtubule dynamics 1 gene DOID:630 genetic disease ISO RGD:1606009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11898421 NRXN2 neurexin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:735900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21424692 11898421 NRXN2 neurexin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:735901 D RGD:9068941 20220825 MouseDO 11898421 NRXN2 neurexin 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:735900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 11898421 NRXN2 neurexin 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:735900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11898421 NRXN2 neurexin 2 gene DOID:1059 intellectual disability ISO RGD:735900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11898421 NRXN2 neurexin 2 gene DOID:12849 autistic disorder ISO RGD:735900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 11898421 NRXN2 neurexin 2 gene DOID:1826 epilepsy ISO RGD:735900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11898421 NRXN2 neurexin 2 gene DOID:3070 high grade glioma ISO RGD:735900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11898421 NRXN2 neurexin 2 gene DOID:630 genetic disease ISO RGD:735900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:10973849|PMID:11222472|PMID:12354768|PMID:12820704|PMID:14523039|PMID:15466642|PMID:15840476|PMID:15840483|PMID:15851227|PMID:16325048|PMID:16414944|PMID:16540748|PMID:17161064|PMID:17210839|PMID:18071069|PMID:18361072|PMID:18452873|PMID:19412328|PMID:19841300|PMID:20129283|PMID:20403459|PMID:20539757|PMID:20875080|PMID:22373669|PMID:22378279|PMID:22557970|PMID:22581653|PMID:23008441|PMID:23098067|PMID:23503384|PMID:23631430|PMID:23805106|PMID:23861362|PMID:24033266|PMID:24653702|PMID:25163546|PMID:25351510|PMID:25741868|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26066609|PMID:26159999|PMID:26209461|PMID:26467025|PMID:26633542|PMID:26749013|PMID:27041150|PMID:27287068|PMID:28069705|PMID:28265756|PMID:28492532|PMID:28600387|PMID:28781330|PMID:29032884|PMID:29574140|PMID:30084490|PMID:31333075|PMID:31568572|PMID:31737537|PMID:32048431|PMID:32323320|PMID:33535892|PMID:34755423 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0050451 Brugada syndrome ISO RGD:731255 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28449774|PMID:28472724|PMID:28482396|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28611029|PMID:28637969|PMID:28638671|PMID:28701297|PMID:28704380|PMID:28725320|PMID:28734073|PMID:28739862|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:29016939|PMID:29032884|PMID:29121719|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29331327|PMID:29402340|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29652902|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29915097|PMID:29997009|PMID:29998127|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30244407|PMID:30254039|PMID:30291343|PMID:30364184|PMID:30371189|PMID:30385166|PMID:30419068|PMID:30453078|PMID:30476647|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30758498|PMID:30828344|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31130284|PMID:31191357|PMID:31262209|PMID:31333075|PMID:31337358|PMID:31397097|PMID:31447099|PMID:31453232|PMID:31477192|PMID:31568572|PMID:31680123|PMID:31694554|PMID:31737537|PMID:31751991|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32013205|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32153684|PMID:32161207|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32659924|PMID:32746448|PMID:32880476|PMID:33087929|PMID:33131149|PMID:33164571|PMID:33221895|PMID:33535892|PMID:33712541|PMID:34008892|PMID:35535697|PMID:3953067|PMID:7651517|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8661019|PMID:8917568|PMID:8972392|PMID:9495298|PMID:9506831|PMID:9521325|PMID:9536098|PMID:9686753 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0050451 Brugada syndrome ISO RGD:731255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:10200053|PMID:10377081|PMID:10448858|PMID:10471492|PMID:10508990|PMID:10532948|PMID:10618304|PMID:10690282|PMID:10711933|PMID:10727653|PMID:10758053|PMID:10772658|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11013131|PMID:11029409|PMID:11076825|PMID:11123251|PMID:11150514|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11410597|PMID:11417215|PMID:11420310|PMID:11463728|PMID:11535573|PMID:11710892|PMID:11748104|PMID:11786529|PMID:11804990|PMID:11807557|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12106943|PMID:12123767|PMID:12193783|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12522116|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12574983|PMID:12598077|PMID:12639704|PMID:12650885|PMID:12673799|PMID:12693506|PMID:12695286|PMID:12741714|PMID:12820704|PMID:12845244|PMID:12877697|PMID:12898257|PMID:14500339|PMID:14523039|PMID:14607451|PMID:14625171|PMID:14654377|PMID:14676229|PMID:14687250|PMID:14736542|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14990510|PMID:14998624|PMID:15023552|PMID:15028074|PMID:15047701|PMID:15051636|PMID:15057319|PMID:15120823|PMID:15121794|PMID:15136511|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15184283|PMID:15266024|PMID:15277732|PMID:15338453|PMID:15466642|PMID:15466643|PMID:15485686|PMID:15520322|PMID:15556047|PMID:15579534|PMID:15599693|PMID:15621041|PMID:15670972|PMID:15671429|PMID:15689442|PMID:15828879|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851320|PMID:15851440|PMID:15877619|PMID:15890323|PMID:15910881|PMID:15992732|PMID:15996170|PMID:15998675|PMID:15998690|PMID:16038262|PMID:16039271|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16188595|PMID:16199547|PMID:16239976|PMID:16254012|PMID:16266370|PMID:16267250|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16426410|PMID:16453014|PMID:16453024|PMID:16521247|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16616735|PMID:16643399|PMID:16684018|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16764707|PMID:16864729|PMID:16922724|PMID:16945804|PMID:16980337|PMID:17075016|PMID:17081365|PMID:17088455|PMID:17118339|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17198989|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17404158|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17445919|PMID:17504259|PMID:17512504|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17697823|PMID:17698727|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18065446|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18245395|PMID:18252757|PMID:18304999|PMID:18341814|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18375968|PMID:18378609|PMID:18426444|PMID:18436145|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18465145|PMID:18503232|PMID:18508782|PMID:18551308|PMID:18596570|PMID:18599870|PMID:18616619|PMID:18697752|PMID:18708744|PMID:18752142|PMID:18752973|PMID:18809926|PMID:18848812|PMID:18849657|PMID:18929244|PMID:18929331|PMID:18976777|PMID:18984535|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19029124|PMID:19056759|PMID:19075524|PMID:19083750|PMID:19167345|PMID:19167409|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19336922|PMID:19406494|PMID:19411664|PMID:19412328|PMID:19561025|PMID:19564561|PMID:19597050|PMID:19606473|PMID:19632629|PMID:19648062|PMID:19666841|PMID:19706159|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19808398|PMID:19808440|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19863579|PMID:19957170|PMID:19996378|PMID:20022821|PMID:20025708|PMID:20031634|PMID:20090423|PMID:20102864|PMID:20102920|PMID:20110800|PMID:20123697|PMID:2012928|PMID:20129283|PMID:20137763|PMID:20339501|PMID:20345624|PMID:20381179|PMID:20384651|PMID:20395683 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0050451 Brugada syndrome ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20564468|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20728579|PMID:20812931|PMID:20875080|PMID:20877689|PMID:20960617|PMID:20960618|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21076026|PMID:21109022|PMID:21126620|PMID:21135007|PMID:21143119|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21193062|PMID:21273195|PMID:21288276|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21410720|PMID:21483645|PMID:21498565|PMID:21552533|PMID:21566136|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21824921|PMID:21840964|PMID:21895525|PMID:21908450|PMID:21911102|PMID:22028457|PMID:22090165|PMID:22090166|PMID:22129298|PMID:22247482|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22370247|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22402334|PMID:22407026|PMID:22426227|PMID:2247482|PMID:22490985|PMID:22519808|PMID:22529811|PMID:22557970|PMID:22581653|PMID:22675453|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22705208|PMID:22710484|PMID:22717692|PMID:22721569|PMID:22739120|PMID:22766342|PMID:22789973|PMID:22795782|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22936642|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23085483|PMID:23091201|PMID:23098067|PMID:23105938|PMID:23139254|PMID:23158531|PMID:23168001|PMID:23174487|PMID:23200271|PMID:23237912|PMID:23276942|PMID:23283979|PMID:23293604|PMID:23299917|PMID:23321620|PMID:23376825|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23425522|PMID:23465283|PMID:23503384|PMID:23538271|PMID:23571586|PMID:23612926|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23785128|PMID:23791817|PMID:2380016|PMID:23805106|PMID:23818691|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:23963187|PMID:23998552|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24077912|PMID:24136861|PMID:24144883|PMID:24167619|PMID:24190697|PMID:24218437|PMID:24223155|PMID:24227891|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24363352|PMID:24363796|PMID:24365614|PMID:2437023|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24524602|PMID:24529773|PMID:24573164|PMID:24573764|PMID:24581105|PMID:24582607|PMID:24596401|PMID:24599044|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762593|PMID:24762805|PMID:24768612|PMID:24775617|PMID:24784157|PMID:24795344|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24895455|PMID:24915601|PMID:24948852|PMID:24951569|PMID:24951663|PMID:24963427|PMID:24972929|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25119684|PMID:25163546|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210054|PMID:25210526|PMID:25261036|PMID:25326637|PMID:25344691|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25460174|PMID:25467552|PMID:25481746|PMID:25525159|PMID:25554238|PMID:25616976|PMID:25624448|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25748040|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26031372|PMID:26036855|PMID:26066609|PMID:26071830|PMID:26111534|PMID:26125038|PMID:26129877|PMID:26131924|PMID:26132555|PMID:26136871|PMID:26150789|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26189708|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26220970|PMID:26282245|PMID:26283144|PMID:26304136|PMID:26304620|PMID:26332594|PMID:26383716|PMID:26392562|PMID:26406308|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26656175|PMID:26669661|PMID:26680202|PMID:26713557|PMID:26724572|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26801742|PMID:26803770|PMID:26820365|PMID:26822237|PMID:26828384 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0050451 Brugada syndrome ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:26884609|PMID:26888838|PMID:26916278|PMID:26941339|PMID:27000522|PMID:27026747|PMID:27041150|PMID:27066507|PMID:27077130|PMID:27082542|PMID:27108952|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27281089|PMID:27287068|PMID:27321809|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27668095|PMID:27676163|PMID:27707468|PMID:27711072|PMID:27784737|PMID:27810048|PMID:27816319|PMID:27834932|PMID:27871843|PMID:27896284|PMID:27930354|PMID:27930701|PMID:28018021|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28104484|PMID:28127136|PMID:28146213|PMID:28150151|PMID:28166811|PMID:28183570|PMID:28202948|PMID:28262340|PMID:28265756|PMID:28301460|PMID:28316956|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28344931|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28472724|PMID:28482396|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28589536|PMID:28600387|PMID:28611029|PMID:28637969|PMID:28638671|PMID:28701297|PMID:28704380|PMID:28725320|PMID:28734073|PMID:28739862|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:29016939|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29121719|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29309564|PMID:29325976|PMID:29331327|PMID:29349559|PMID:29396286|PMID:29396561|PMID:29402340|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29572929|PMID:29574140|PMID:29579189|PMID:29606593|PMID:29652902|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29766885|PMID:29773157|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29915097|PMID:29956481|PMID:29961767|PMID:29997009|PMID:29998127|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30218094|PMID:30228971|PMID:30244407|PMID:30246897|PMID:30254039|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30371189|PMID:30385166|PMID:30403391|PMID:30419068|PMID:30453078|PMID:30476647|PMID:30497561|PMID:30532816|PMID:30609406|PMID:30615648|PMID:30662450|PMID:30670673|PMID:30690642|PMID:30755392|PMID:30758498|PMID:30775854|PMID:30828344|PMID:30828412|PMID:30847666|PMID:30935997|PMID:30972196|PMID:30975432|PMID:31019283|PMID:31020160|PMID:31032819|PMID:31043699|PMID:31130284|PMID:31191357|PMID:31231243|PMID:31262209|PMID:31333075|PMID:31337358|PMID:31397097|PMID:31447099|PMID:31453232|PMID:31470130|PMID:31477192|PMID:31501239|PMID:31514951|PMID:31522937|PMID:31534214|PMID:31535183|PMID:31568572|PMID:31590245|PMID:31610692|PMID:31614475|PMID:31638414|PMID:31680123|PMID:31694554|PMID:31696929|PMID:31737537|PMID:31751991|PMID:31776209|PMID:31866066|PMID:31900993|PMID:31901299|PMID:31918855|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32013205|PMID:32048431|PMID:32055599|PMID:32091595|PMID:32096284|PMID:32145446|PMID:32153684|PMID:32161207|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32371921|PMID:32383558|PMID:32389048|PMID:32431610|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32508047|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32619740|PMID:32659924|PMID:32746448|PMID:32789579|PMID:32850980|PMID:32880476|PMID:32893267|PMID:32931854|PMID:33071830|PMID:33083013|PMID:33084224|PMID:33087929|PMID:33131149|PMID:33164571|PMID:33213388|PMID:33221895|PMID:33232181|PMID:33258288|PMID:33338828|PMID:33463855|PMID:33500567|PMID:33535892|PMID:33712541|PMID:33764691|PMID:33789662|PMID:34008892|PMID:34019817|PMID:34021086|PMID:34048814|PMID:34092119|PMID:34122134|PMID:34127479|PMID:34135346 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0050451 Brugada syndrome ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:34219138|PMID:34302607|PMID:34379075|PMID:34426522|PMID:34461752|PMID:34539730|PMID:34620408|PMID:34755423|PMID:34758253|PMID:34930020|PMID:34935411|PMID:35052356|PMID:35284542|PMID:35535697|PMID:35663620|PMID:36129056|PMID:36197721|PMID:36220970|PMID:3953067|PMID:7651517|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8661019|PMID:8663992|PMID:8917568|PMID:8972392|PMID:9495298|PMID:9506831|PMID:9521325|PMID:9536098|PMID:9686753|PMID:9716085 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0050700 cardiomyopathy ISO RGD:731255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10807545|PMID:10961955|PMID:10966831|PMID:11710892|PMID:11823453|PMID:11901046|PMID:12193783|PMID:12471205|PMID:12639704|PMID:14500339|PMID:14760488|PMID:14967853|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15689442|PMID:15851227|PMID:15851440|PMID:15992732|PMID:15996170|PMID:16061744|PMID:16155735|PMID:16267253|PMID:16379539|PMID:16453014|PMID:16453024|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17275750|PMID:17587741|PMID:17605181|PMID:17892895|PMID:17905336|PMID:17967976|PMID:18071069|PMID:18245395|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18452875|PMID:18456723|PMID:18976777|PMID:19026623|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19716085|PMID:19799913|PMID:19841298|PMID:19841300|PMID:20102864|PMID:20110800|PMID:20129283|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20636320|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21167004|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21621375|PMID:21622575|PMID:22378279|PMID:22519808|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22984773|PMID:22995991|PMID:23091201|PMID:23414114|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23714088|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24317018|PMID:24332150|PMID:24400668|PMID:24606995|PMID:24613995|PMID:24681144|PMID:24736382|PMID:24784157|PMID:24951663|PMID:25051102|PMID:25065297|PMID:25410959|PMID:25637381|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26131924|PMID:26159999|PMID:26213684|PMID:26467025|PMID:26746457|PMID:27153395|PMID:27381756|PMID:27711072|PMID:28087566|PMID:28301460|PMID:28359509|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28589536|PMID:28638671|PMID:28831623|PMID:28988457|PMID:29431662|PMID:29449963|PMID:29672598|PMID:29728395|PMID:29997009|PMID:30079003|PMID:30146492|PMID:30193851|PMID:30364184|PMID:30419068|PMID:30847666|PMID:30972196|PMID:31043699|PMID:31337358|PMID:31737537|PMID:31983221|PMID:32470535|PMID:32533946|PMID:32893267|PMID:33221895|PMID:33258288|PMID:35663620|PMID:8661019|PMID:9716085 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0050820 atrioventricular block ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AV block PMID:11804990|PMID:15671429|PMID:18048769|PMID:19056759|PMID:22581653|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0060224 atrial fibrillation ISO RGD:731255 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:10807545|PMID:11901046|PMID:14967853|PMID:15176425|PMID:15851227|PMID:15992732|PMID:15996170|PMID:16379539|PMID:17210839|PMID:17210841|PMID:17587741|PMID:18088563|PMID:18378609|PMID:18426444|PMID:18929244|PMID:19026623|PMID:19167345|PMID:19716085|PMID:19808477|PMID:19841300|PMID:20129283|PMID:20636320|PMID:21109022|PMID:21143119|PMID:21167004|PMID:21321465|PMID:22378279|PMID:22581653|PMID:22677073|PMID:22685113|PMID:22995991|PMID:23414114|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24317018|PMID:24631775|PMID:24784157|PMID:25410959|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25904541|PMID:26467025|PMID:27153395|PMID:27381756|PMID:27711072|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28341781|PMID:28492532|PMID:29247119|PMID:29449639|PMID:29709244|PMID:30086531|PMID:30193851|PMID:30847666|PMID:31231243|PMID:32048431|PMID:33712541|PMID:34019817|PMID:34758253|PMID:36129056 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0060319 cardiac arrest ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:12354768|PMID:12820704|PMID:15466642|PMID:15840476|PMID:16540748|PMID:17161064|PMID:17210839|PMID:18071069|PMID:18452873|PMID:19412328|PMID:20403459|PMID:20875080|PMID:22378279|PMID:22581653|PMID:23008441|PMID:23098067|PMID:24033266|PMID:24653702|PMID:25741868|PMID:26209461|PMID:26467025|PMID:26749013|PMID:27287068|PMID:28265756|PMID:28492532|PMID:28781330|PMID:29032884 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0060480 left ventricular noncompaction ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:12193783|PMID:12471205|PMID:14500339|PMID:15161528|PMID:15851227|PMID:15992732|PMID:16061744|PMID:16453014|PMID:16453024|PMID:16731473|PMID:16922724|PMID:17185997|PMID:17275750|PMID:17892895|PMID:17967976|PMID:18362431|PMID:18378609|PMID:18452875|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19841300|PMID:20129283|PMID:20403459|PMID:20470418|PMID:20486126|PMID:21325150|PMID:21385947|PMID:21498565|PMID:21621375|PMID:22581653|PMID:22984773|PMID:23091201|PMID:23861362|PMID:24033266|PMID:24332150|PMID:24951663|PMID:25065297|PMID:25741868|PMID:25757662|PMID:25923670|PMID:26467025|PMID:28492532|PMID:29431662|PMID:30364184 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:15840476|PMID:19841300|PMID:20129283|PMID:22581653|PMID:23805106|PMID:24033266|PMID:25351510|PMID:25741868|PMID:25904541|PMID:28492532 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:731255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:15840476|PMID:19841300|PMID:20129283|PMID:22581653|PMID:23805106|PMID:24033266|PMID:25351510|PMID:25741868|PMID:25904541|PMID:28492532|PMID:28600387|PMID:32048431 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:731255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:15840476|PMID:19841300|PMID:20129283|PMID:22581653|PMID:23805106|PMID:24033266|PMID:25351510|PMID:25741868|PMID:25904541|PMID:28492532|PMID:28600387|PMID:32048431 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0070149 hereditary sensory and autonomic neuropathy type 7 ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 7 PMID:28492532 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10690282|PMID:10727653|PMID:11823453|PMID:12639704|PMID:15121794|PMID:15689442|PMID:15851227|PMID:15851440|PMID:15992732|PMID:16155735|PMID:16199547|PMID:16568155|PMID:16707561|PMID:17210839|PMID:17605181|PMID:17905336|PMID:18245395|PMID:18378609|PMID:18976777|PMID:19251209|PMID:19412328|PMID:19841300|PMID:20110800|PMID:20129283|PMID:20486126|PMID:20981092|PMID:22378279|PMID:22407026|PMID:22519808|PMID:22581653|PMID:22682427|PMID:22789973|PMID:22840528|PMID:23174487|PMID:23321620|PMID:23414114|PMID:23465283|PMID:23631430|PMID:23853484|PMID:23861362|PMID:24033266|PMID:24227891|PMID:24529773|PMID:24573164|PMID:24784157|PMID:24795344|PMID:24915601|PMID:25051102|PMID:25172307|PMID:25650408|PMID:25741868|PMID:25748040|PMID:26111534|PMID:26131924|PMID:26159999|PMID:26467025|PMID:27153395|PMID:27281089|PMID:27554632|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28638671|PMID:28798025|PMID:29121719|PMID:29420653|PMID:29672598|PMID:29997009|PMID:30079003|PMID:30146492|PMID:30193851|PMID:30419068|PMID:31333075|PMID:31568572|PMID:32048431|PMID:8661019 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0080662 atrial standstill 1 ISO RGD:731255 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Atrial standstill 1, digenic PMID:12522116|PMID:15466643|PMID:15671429|PMID:15998690|PMID:16188595|PMID:16684018|PMID:19251209|PMID:19716085|PMID:20129283|PMID:20384651|PMID:20539757|PMID:21596231|PMID:21824921|PMID:22247482|PMID:22581653|PMID:23791817|PMID:24136861|PMID:24573164|PMID:24762805|PMID:25741868|PMID:25904541|PMID:26111534|PMID:28492532|PMID:28637969|PMID:33131149|PMID:3953067 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110218 Brugada syndrome 1 ISO RGD:731255 D RGD:7240710 20180802 OMIM 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110218 Brugada syndrome 1 ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome 1 | ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:10377081|PMID:10508990|PMID:10532948|PMID:10590249|PMID:10618304|PMID:10690282|PMID:10727653|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11013131|PMID:11029409|PMID:11076825|PMID:11123251|PMID:11150514|PMID:11222472|PMID:11410597|PMID:11417215|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11786529|PMID:11804990|PMID:11807557|PMID:11823453|PMID:11827685|PMID:11889015|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12051963|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12820704|PMID:12877697|PMID:14500339|PMID:14523039|PMID:14607451|PMID:14687250|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14998624|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15266024|PMID:15277732|PMID:15338453|PMID:15466642|PMID:15520322|PMID:15556047|PMID:15579534|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15828879|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15910881|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16267250|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16764707|PMID:16864729|PMID:16922724|PMID:17081365|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17504259|PMID:17512504|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17697823|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18245395|PMID:18304999|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18503232|PMID:18508782|PMID:18596570|PMID:18599870|PMID:18708744|PMID:18752142|PMID:18752973|PMID:18809926|PMID:18849657|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19561025|PMID:19597050|PMID:19606473|PMID:19632629|PMID:19666841|PMID:19706159|PMID:19716085|PMID:19799913|PMID:19808398|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20102920|PMID:20110800|PMID:20123697|PMID:20129283|PMID:20137763|PMID:20384651|PMID:20395683|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20875080|PMID:20877689|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21840964|PMID:21908450|PMID:22028457|PMID:22090166|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22370247|PMID:22373669|PMID:22378279|PMID:22426227|PMID:2247482|PMID:22490985|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22710484|PMID:22739120|PMID:22766342|PMID:22789973|PMID:22795782|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23168001|PMID:23174487|PMID:23200271|PMID:23237912|PMID:23293604|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:23538271|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110218 Brugada syndrome 1 ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome 1 | ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:23714088|PMID:23785128|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:23963187|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24227891|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24524602|PMID:24529773|PMID:24573164|PMID:24573764|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762593|PMID:24762805|PMID:24784157|PMID:24795344|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24895455|PMID:24948852|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210054|PMID:25210526|PMID:25261036|PMID:25326637|PMID:25344691|PMID:25348405|PMID:25351510|PMID:25410959|PMID:25467552|PMID:25554238|PMID:25624448|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25748040|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26031372|PMID:26071830|PMID:26111534|PMID:26125038|PMID:26129877|PMID:26131924|PMID:26136871|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26189708|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26220970|PMID:26282245|PMID:26283144|PMID:26304620|PMID:26332594|PMID:26406308|PMID:26412604|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26680202|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26801742|PMID:26820365|PMID:26822237|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27077130|PMID:27082542|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27281089|PMID:27287068|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27816319|PMID:27834932|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28018021|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28183570|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28344931|PMID:28359509|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28589536|PMID:28600387|PMID:28611029|PMID:28638671|PMID:28704380|PMID:28725320|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29016939|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29331327|PMID:29349559|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29579189|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29766885|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29961767|PMID:29997009|PMID:29998127|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30244407|PMID:30246897|PMID:30364184|PMID:30371189|PMID:30385166|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30670673|PMID:30690642|PMID:30828344|PMID:30828412|PMID:30847666|PMID:30972196|PMID:30975432|PMID:31019283|PMID:31032819|PMID:31043699|PMID:31191357|PMID:31333075|PMID:31337358|PMID:31397097|PMID:31447099|PMID:31470130|PMID:31514951|PMID:31534214|PMID:31535183|PMID:31568572|PMID:31610692|PMID:31638414|PMID:31696929|PMID:31737537|PMID:31866066|PMID:31901299|PMID:31918855|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32268277|PMID:32323320 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110218 Brugada syndrome 1 ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome 1 | ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:32371921|PMID:32383558|PMID:32389048|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32508047|PMID:32533946|PMID:32619740|PMID:32659924|PMID:32746448|PMID:32789579|PMID:32850980|PMID:32880476|PMID:32893267|PMID:32931854|PMID:33071830|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33213388|PMID:33221895|PMID:33232181|PMID:33258288|PMID:33338828|PMID:33500567|PMID:33535892|PMID:33764691|PMID:34019817|PMID:34021086|PMID:34092119|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34461752|PMID:34539730|PMID:34930020|PMID:34935411|PMID:35284542|PMID:35663620|PMID:35727495|PMID:36129056|PMID:36197721|PMID:36220970|PMID:8661019|PMID:8972392|PMID:9521325|PMID:9536098|PMID:9686753|PMID:9716085 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:731255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:11823453|PMID:12639704|PMID:15121794|PMID:15689442|PMID:15851227|PMID:15851440|PMID:15992732|PMID:16155735|PMID:16568155|PMID:16707561|PMID:17210839|PMID:17605181|PMID:17905336|PMID:18245395|PMID:18378609|PMID:18976777|PMID:19841300|PMID:20129283|PMID:20981092|PMID:22378279|PMID:22407026|PMID:22519808|PMID:22581653|PMID:22682427|PMID:23174487|PMID:23465283|PMID:23631430|PMID:23853484|PMID:23861362|PMID:24033266|PMID:24227891|PMID:24784157|PMID:25051102|PMID:25741868|PMID:26131924|PMID:26159999|PMID:26467025|PMID:27153395|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28638671|PMID:29121719|PMID:29420653|PMID:29672598|PMID:29997009|PMID:30079003|PMID:30146492|PMID:30419068|PMID:32048431|PMID:8661019 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:731255 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:16712702|PMID:18508782|PMID:19716085|PMID:22581653|PMID:23631430|PMID:25741868|PMID:25904541|PMID:28438721|PMID:28492532|PMID:31610692|PMID:34379075 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:16712702|PMID:18508782|PMID:19716085|PMID:22581653|PMID:23631430|PMID:25741868|PMID:25904541|PMID:28438721|PMID:28492532|PMID:31610692|PMID:34379075 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110433 dilated cardiomyopathy 1E ISO RGD:731255 D RGD:7240710 20180130 OMIM 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110433 dilated cardiomyopathy 1E ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2 | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA | ClinVar Annotator: match by term: Dilated cardiomyopathy 1E PMID:10508990|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11222472|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12522116|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12820704|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15266024|PMID:15466642|PMID:15466643|PMID:15556047|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998675|PMID:15998690|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16684018|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17075016|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18849657|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20384651|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20812931|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21824921|PMID:21840964|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22710484|PMID:22739120|PMID:22766342|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23174487|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23791817|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210054|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110433 dilated cardiomyopathy 1E ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2 | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA | ClinVar Annotator: match by term: Dilated cardiomyopathy 1E PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26282245|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26680202|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26884609|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27066507|PMID:27077130|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28637969|PMID:28638671|PMID:28725320|PMID:28779003|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30291343|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30847666|PMID:30972196|PMID:31043699|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31610692|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32533946|PMID:32746448|PMID:32880476|PMID:32893267|PMID:33071830|PMID:33083013|PMID:33084224|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34930020|PMID:34935411|PMID:36129056|PMID:3953067|PMID:8661019|PMID:9536098|PMID:9716085 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:731255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:11901046|PMID:12106943|PMID:14523039|PMID:15671429|PMID:15851227|PMID:15890323|PMID:16643399|PMID:16712702|PMID:17368591|PMID:19251209|PMID:19841300|PMID:19862833|PMID:20031634|PMID:20102864|PMID:20129283|PMID:20384651|PMID:20448214|PMID:20539757|PMID:21273195|PMID:21596231|PMID:22581653|PMID:22677073|PMID:22685113|PMID:22789973|PMID:22885917|PMID:22899775|PMID:23321620|PMID:23414114|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24613995|PMID:24762805|PMID:24784157|PMID:25171853|PMID:25351510|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25757662|PMID:25904541|PMID:26467025|PMID:26636822|PMID:26743238|PMID:26746457|PMID:26884609|PMID:27000522|PMID:27066507|PMID:27332903|PMID:28482396|PMID:28492532|PMID:30662450|PMID:31043699|PMID:31337358|PMID:31737537|PMID:32048431|PMID:32880476|PMID:9521325 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110644 long QT syndrome 1 ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10377081|PMID:10508990|PMID:10727653|PMID:10807545|PMID:10807547|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11274952|PMID:11304498|PMID:11410597|PMID:11463728|PMID:11535573|PMID:11710892|PMID:11823453|PMID:11901046|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12106943|PMID:12193783|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12650885|PMID:12695286|PMID:12820704|PMID:12877697|PMID:14500339|PMID:14687250|PMID:14736542|PMID:14753626|PMID:14760488|PMID:14985827|PMID:14990510|PMID:15028074|PMID:15051636|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15466642|PMID:15579534|PMID:15599693|PMID:15689442|PMID:15840476|PMID:15851227|PMID:15992732|PMID:15996170|PMID:16039271|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16254012|PMID:16267253|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:16980337|PMID:17075016|PMID:17088455|PMID:17118339|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17275750|PMID:17438610|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17892895|PMID:17905336|PMID:17967976|PMID:17993325|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18508782|PMID:18752142|PMID:18929331|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19083750|PMID:19167345|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19406494|PMID:19411664|PMID:19412328|PMID:19606473|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20110800|PMID:20129283|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20541041|PMID:20566482|PMID:20812931|PMID:20875080|PMID:21051419|PMID:21126620|PMID:21185501|PMID:21193062|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21498565|PMID:21621375|PMID:21622575|PMID:21911102|PMID:22090165|PMID:22090166|PMID:22129298|PMID:22331908|PMID:22337857|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22581653|PMID:22685113|PMID:22705208|PMID:22721569|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22936642|PMID:22984773|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23158531|PMID:23174487|PMID:23321620|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23805106|PMID:23838598|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24332150|PMID:24349418|PMID:2437023|PMID:24573164|PMID:24596401|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24871449|PMID:24951663|PMID:25051102|PMID:25065297|PMID:25210526|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26125038|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26332594|PMID:26412604|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26803770|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27930701|PMID:28087622|PMID:28150151|PMID:28183995|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28492532|PMID:28494446|PMID:28567303|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29540853|PMID:29579189|PMID:29606593 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110644 long QT syndrome 1 ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29956481|PMID:30059973|PMID:30079003|PMID:30193851|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30385166|PMID:30497561|PMID:30609406|PMID:30690642|PMID:30755392|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31231243|PMID:31262209|PMID:31447099|PMID:31501239|PMID:31610692|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32153684|PMID:32268277|PMID:32437023|PMID:32449611|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32746448|PMID:32893267|PMID:33131149|PMID:33221895|PMID:33338828|PMID:33712541|PMID:34135346|PMID:34379075|PMID:34426522|PMID:34758253|PMID:35052356|PMID:35535697|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9716085 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110645 long QT syndrome 2 ISO RGD:731255 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:18378609|PMID:21321465|PMID:22581653|PMID:22685113|PMID:25741868|PMID:28202948|PMID:28492532|PMID:32048431|PMID:36129056 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110646 long QT syndrome 3 ISO RGD:731255 D RGD:7240710 20180130 OMIM 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110646 long QT syndrome 3 ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 3 PMID:10200053|PMID:10377081|PMID:10448858|PMID:10508990|PMID:10590249|PMID:10618304|PMID:10727653|PMID:10772658|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11076825|PMID:11410597|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11889015|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12193783|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12522116|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12574983|PMID:12639704|PMID:12650885|PMID:12673799|PMID:12695286|PMID:12820704|PMID:12877697|PMID:14500339|PMID:14523039|PMID:14654377|PMID:14687250|PMID:14736542|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14990510|PMID:14998624|PMID:15023552|PMID:15028074|PMID:15051636|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15184283|PMID:15266024|PMID:15338453|PMID:15466642|PMID:15466643|PMID:15556047|PMID:15579534|PMID:15599693|PMID:15621041|PMID:15670972|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998675|PMID:15998690|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16254012|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16684018|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:16980337|PMID:17088455|PMID:17118339|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18697752|PMID:18752142|PMID:18809926|PMID:18849657|PMID:18929331|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19167345|PMID:19167409|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19863579|PMID:19996378|PMID:20031634|PMID:20090423|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20137763|PMID:20384651|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20728579|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21193062|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21410720|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21824921|PMID:21840964|PMID:21908450|PMID:22090165|PMID:22090166|PMID:22129298|PMID:22247482|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22360817|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22710484|PMID:22721569|PMID:22739120|PMID:22766342|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23791817|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24167619|PMID:24190697 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110646 long QT syndrome 3 ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 3 PMID:24218437|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24871449|PMID:24895455|PMID:24948852|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25163546|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210054|PMID:25210526|PMID:25261036|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26031372|PMID:26111534|PMID:26125038|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26282245|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26669661|PMID:26680202|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26803770|PMID:26820365|PMID:26822237|PMID:26884609|PMID:26888838|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27041150|PMID:27066507|PMID:27077130|PMID:27082542|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28637969|PMID:28638671|PMID:28725320|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28790152|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29331327|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29579189|PMID:29606593|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29956481|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30369311|PMID:30385166|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30828412|PMID:30847666|PMID:30972196|PMID:30975432|PMID:31019283|PMID:31043699|PMID:31191357|PMID:31231243|PMID:31262209|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31610692|PMID:31638414|PMID:31737537|PMID:31776209|PMID:31866066|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32145446|PMID:32233023|PMID:32323320|PMID:32371921|PMID:32389048|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32659924|PMID:32746448|PMID:32850980|PMID:32880476|PMID:32893267|PMID:33071830|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33164571|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33712541|PMID:34008892|PMID:34019817|PMID:34122134|PMID:34135346|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34539730|PMID:34755423|PMID:34758253|PMID:34930020|PMID:34935411|PMID:35535697|PMID:36129056|PMID:36197721|PMID:3953067|PMID:7651517|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8661019|PMID:8917568|PMID:8972392|PMID:9495298|PMID:9506831|PMID:9536098|PMID:9716085 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110646 long QT syndrome 3 treatment ISO RGD:731255 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:30566038|REF_RGD_ID:13831293 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0111073 progressive familial heart block ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: Progressive familial heart block PMID:10471492|PMID:10508990|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11222472|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12820704|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15266024|PMID:15338453|PMID:15466642|PMID:15556047|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17438607|PMID:17438610|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18849657|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20110800|PMID:20123697|PMID:20129283|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21840964|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23174487|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24784157|PMID:24815523|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26282245|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26680202|PMID:26713557 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0111073 progressive familial heart block ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: Progressive familial heart block PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27077130|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28638671|PMID:28725320|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30847666|PMID:30972196|PMID:31043699|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31610692|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32323320|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32533946|PMID:32746448|PMID:32880476|PMID:32893267|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34930020|PMID:34935411|PMID:36129056|PMID:8661019|PMID:9536098|PMID:9716085 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0111074 progressive familial heart block type IA ISO RGD:731255 D RGD:7240710 20180130 OMIM 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0111074 progressive familial heart block type IA ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA PMID:10471492|PMID:10508990|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11222472|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12820704|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15266024|PMID:15338453|PMID:15466642|PMID:15556047|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17438607|PMID:17438610|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18849657|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21840964|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23174487|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24784157|PMID:24815523|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26282245|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26680202|PMID:26713557|PMID:26743238 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0111074 progressive familial heart block type IA ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27077130|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28638671|PMID:28725320|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30847666|PMID:30972196|PMID:31043699|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31610692|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32323320|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32533946|PMID:32746448|PMID:32880476|PMID:32893267|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34930020|PMID:34935411|PMID:36129056|PMID:8661019|PMID:9536098|PMID:9716085 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:23861362|PMID:25741868|PMID:28492532|PMID:31680123 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:10273 heart conduction disease ISO RGD:731255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Conduction system disorder PMID:10532948|PMID:10618304|PMID:11029409|PMID:11123251|PMID:11234013|PMID:11748104|PMID:11827685|PMID:12569159|PMID:12574143|PMID:14523039|PMID:15520322|PMID:16922724|PMID:18065446|PMID:18809926|PMID:19251209|PMID:19606473|PMID:19716085|PMID:20025708|PMID:20031634|PMID:20129283|PMID:20384651|PMID:20539757|PMID:20564468|PMID:21552533|PMID:22581653|PMID:22885917|PMID:24136861|PMID:24573164|PMID:24815523|PMID:24948852|PMID:25624448|PMID:25637381|PMID:25741868|PMID:26022185|PMID:26031372|PMID:26916278|PMID:27082542|PMID:27554632|PMID:28449774|PMID:28492532|PMID:28739862|PMID:28781330|PMID:29167113|PMID:29709101|PMID:29728395|PMID:30193851|PMID:30662450|PMID:30847666|PMID:31191357|PMID:31447099|PMID:31866066|PMID:31928070|PMID:31981491|PMID:32048431|PMID:32371921|PMID:32383558|PMID:32533946|PMID:32746448|PMID:32850980|PMID:33131149|PMID:34539730|PMID:9521325 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:10969 hemiplegia ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hemiplegia PMID:11804990|PMID:19056759|PMID:22581653|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10807545|PMID:15689442|PMID:15851227|PMID:16155735|PMID:17227473|PMID:18426444|PMID:19841300|PMID:20129283|PMID:21321465|PMID:22581653|PMID:23861362|PMID:24033266|PMID:24463578|PMID:24721456|PMID:25741868|PMID:28492532 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10966831|PMID:11804990|PMID:15671429|PMID:16267253|PMID:16379539|PMID:16453024|PMID:16611632|PMID:17442746|PMID:18048769|PMID:19056759|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20458009|PMID:20981092|PMID:21167004|PMID:21483645|PMID:21596231|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22995991|PMID:22999724|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24349418|PMID:24736382|PMID:24815523|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25348405|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741286|PMID:25741868|PMID:25904541|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28166811|PMID:28412158|PMID:28416588|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:29998127|PMID:30086531|PMID:30193851|PMID:31333075|PMID:31568572|PMID:9521325 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:731255 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10966831|PMID:11804990|PMID:15671429|PMID:16267253|PMID:16379539|PMID:16453024|PMID:16611632|PMID:17442746|PMID:18048769|PMID:19056759|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20458009|PMID:20981092|PMID:21167004|PMID:21483645|PMID:21596231|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22995991|PMID:22999724|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24349418|PMID:24736382|PMID:24815523|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25348405|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741286|PMID:25741868|PMID:25904541|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28166811|PMID:28412158|PMID:28416588|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30972196|PMID:31333075|PMID:31568572|PMID:32533946|PMID:33221895|PMID:9521325 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:731255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10966831|PMID:11804990|PMID:15671429|PMID:16267253|PMID:16379539|PMID:16453024|PMID:16611632|PMID:17442746|PMID:18048769|PMID:19056759|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20458009|PMID:20981092|PMID:21167004|PMID:21483645|PMID:21596231|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22995991|PMID:22999724|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24349418|PMID:24736382|PMID:24815523|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25348405|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741286|PMID:25741868|PMID:25904541|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27532257|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28166811|PMID:28412158|PMID:28416588|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:28988457|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30972196|PMID:31333075|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31901299|PMID:32533946|PMID:33084224|PMID:33221895|PMID:9521325 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10966831|PMID:11804990|PMID:15671429|PMID:16267253|PMID:16379539|PMID:16453024|PMID:16611632|PMID:17442746|PMID:18048769|PMID:19056759|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20458009|PMID:20981092|PMID:21167004|PMID:21483645|PMID:21596231|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22995991|PMID:22999724|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24349418|PMID:24736382|PMID:24815523|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741868|PMID:25904541|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27532257|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28412158|PMID:28416588|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:28988457|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30972196|PMID:31333075|PMID:31477192|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31901299|PMID:31983221|PMID:32533946|PMID:32880476|PMID:33084224|PMID:33221895|PMID:9521325 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:731255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10807545|PMID:10807547|PMID:10966831|PMID:11463728|PMID:11804990|PMID:11997281|PMID:12193783|PMID:12471205|PMID:12569159|PMID:12639704|PMID:14500339|PMID:14760488|PMID:14985827|PMID:15161528|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15851227|PMID:15992732|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16379539|PMID:16453014|PMID:16453024|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17275750|PMID:17442746|PMID:17675083|PMID:17892895|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18093912|PMID:18156160|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18452875|PMID:19026623|PMID:19056759|PMID:19083750|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20403459|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20981092|PMID:21167004|PMID:21325150|PMID:21385947|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23091201|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24332150|PMID:24349418|PMID:24736382|PMID:24815523|PMID:24951663|PMID:25065297|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27532257|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28412158|PMID:28416588|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:28988457|PMID:29431662|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30364184|PMID:30972196|PMID:31333075|PMID:31477192|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31901299|PMID:31983221|PMID:32533946|PMID:32880476|PMID:33084224|PMID:33221895|PMID:9521325 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10807545|PMID:10807547|PMID:10966831|PMID:11463728|PMID:11804990|PMID:11997281|PMID:12193783|PMID:12471205|PMID:12569159|PMID:12639704|PMID:14500339|PMID:14760488|PMID:14985827|PMID:15161528|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15851227|PMID:15992732|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16379539|PMID:16453014|PMID:16453024|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17275750|PMID:17442746|PMID:17675083|PMID:17892895|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18093912|PMID:18156160|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18452875|PMID:18508782|PMID:19026623|PMID:19056759|PMID:19083750|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20403459|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20981092|PMID:21167004|PMID:21325150|PMID:21385947|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23091201|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24332150|PMID:24349418|PMID:24736382|PMID:24815523|PMID:24951663|PMID:25065297|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27532257|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:28988457|PMID:29431662|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30364184|PMID:30972196|PMID:31333075|PMID:31477192|PMID:31514951|PMID:31568572|PMID:31610692|PMID:31737537|PMID:31901299|PMID:31983221|PMID:32533946|PMID:32880476|PMID:33084224|PMID:33221895|PMID:34379075|PMID:9521325 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:13884 sick sinus syndrome ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome | ClinVar Annotator: match by term: Sinus node disease PMID:10377081|PMID:10727653|PMID:10961955|PMID:10973849|PMID:11901046|PMID:12877697|PMID:14523039|PMID:15840476|PMID:16379539|PMID:16453024|PMID:18451998|PMID:18452873|PMID:18508782|PMID:19716085|PMID:19841300|PMID:20110800|PMID:20129283|PMID:20384651|PMID:20448214|PMID:20539757|PMID:21321465|PMID:22090166|PMID:22370247|PMID:22581653|PMID:22789973|PMID:23631430|PMID:24033266|PMID:24762805|PMID:24784157|PMID:24871449|PMID:25741868|PMID:26125038|PMID:26467025|PMID:27381756|PMID:28492532|PMID:28781849|PMID:29806494|PMID:30385166|PMID:31447099|PMID:31737537|PMID:32096284 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:2316 brain ischemia ISO RGD:3637 D RGD:9068941 20200609 RGD PMID:19471098|REF_RGD_ID:6484225 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:2843 long QT syndrome ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:25923670|PMID:26022185|PMID:26125038|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26332594|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27711072|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28166811|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28492532|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29431662|PMID:29447731|PMID:29449963|PMID:29540853|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29728395|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29791480|PMID:29874177|PMID:29884292|PMID:29915097|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30153324|PMID:30193851|PMID:30364184|PMID:30385166|PMID:30758498|PMID:30847666|PMID:31019283|PMID:31043699|PMID:31262209|PMID:31337358|PMID:31737537|PMID:31866066|PMID:31983221|PMID:32009526|PMID:32096284|PMID:32153684|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32746448|PMID:33131149|PMID:33535892|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831|PMID:9686753 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:2843 long QT syndrome ISO RGD:731255 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:10377081|PMID:10508990|PMID:10618304|PMID:10627139|PMID:10690282|PMID:10711933|PMID:10727653|PMID:10758053|PMID:10772658|PMID:10807545|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11076825|PMID:11123251|PMID:11150514|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11410597|PMID:11463728|PMID:11535573|PMID:11710892|PMID:11807557|PMID:11823453|PMID:11901046|PMID:11997281|PMID:12106943|PMID:12123767|PMID:12193783|PMID:12208804|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12574983|PMID:12639704|PMID:12650879|PMID:12650885|PMID:12673799|PMID:12695286|PMID:12820704|PMID:12877697|PMID:12898257|PMID:14500339|PMID:14676229|PMID:14736542|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14990510|PMID:14998624|PMID:15047701|PMID:15051636|PMID:15120823|PMID:15136511|PMID:15161528|PMID:15176425|PMID:15184283|PMID:15466642|PMID:15485686|PMID:15579534|PMID:15599693|PMID:15621041|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15851227|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16039271|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16188595|PMID:16199547|PMID:16239976|PMID:16244680|PMID:16254012|PMID:16267253|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16521247|PMID:16540748|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17075016|PMID:17088455|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17275750|PMID:17438607|PMID:17504259|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17698727|PMID:17892895|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18060054|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18436145|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18708744|PMID:18752142|PMID:18752973|PMID:18848812|PMID:18929331|PMID:18984535|PMID:19026623|PMID:19027780|PMID:19083750|PMID:19167345|PMID:19167409|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19808432|PMID:19841300|PMID:19843919|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20090423|PMID:20102864|PMID:20102920|PMID:20110800|PMID:20129283|PMID:20137763|PMID:20339117|PMID:20384651|PMID:20403459|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20636320|PMID:20812931|PMID:20875080|PMID:20981092|PMID:21051419|PMID:21076026|PMID:21109022|PMID:21126620|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21193062|PMID:21216356|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21908450|PMID:22090165|PMID:22090166|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22360817|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22402334|PMID:22426227|PMID:22490985|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22685113|PMID:22705208|PMID:22710484|PMID:22721569|PMID:22766342|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23158531|PMID:23174487|PMID:23293604|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23692053|PMID:23805106|PMID:23838598|PMID:23861362|PMID:23936059|PMID:23998552|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24573164|PMID:24596401|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24951663|PMID:24963427|PMID:25051102|PMID:25065297|PMID:25119684|PMID:25210054|PMID:25210526|PMID:25326637|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741286|PMID:25741868 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:2843 long QT syndrome ISO RGD:731255 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:25757662|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26125038|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26332594|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27711072|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28166811|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28449774|PMID:28492532|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29431662|PMID:29447731|PMID:29449963|PMID:29540853|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29728395|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29791480|PMID:29874177|PMID:29884292|PMID:29915097|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30153324|PMID:30193851|PMID:30291343|PMID:30364184|PMID:30385166|PMID:30758498|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31262209|PMID:31337358|PMID:31447099|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32096284|PMID:32153684|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32746448|PMID:33131149|PMID:33221895|PMID:33535892|PMID:34021086|PMID:35535697|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831|PMID:9686753 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:2843 long QT syndrome ISO RGD:731255 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:25757662|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26125038|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26332594|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27711072|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28166811|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28449774|PMID:28492532|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29431662|PMID:29447731|PMID:29449963|PMID:29540853|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29728395|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29791480|PMID:29874177|PMID:29884292|PMID:29915097|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30153324|PMID:30193851|PMID:30291343|PMID:30364184|PMID:30385166|PMID:30758498|PMID:30828412|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31262209|PMID:31337358|PMID:31447099|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32096284|PMID:32153684|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32746448|PMID:33131149|PMID:33221895|PMID:33535892|PMID:34021086|PMID:35535697|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831|PMID:9686753 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:2843 long QT syndrome ISO RGD:731255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:10200053|PMID:10377081|PMID:10508990|PMID:10618304|PMID:10627139|PMID:10690282|PMID:10711933|PMID:10727653|PMID:10758053|PMID:10772658|PMID:10807545|PMID:10807547|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11076825|PMID:11123251|PMID:11150514|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11410597|PMID:11463728|PMID:11535573|PMID:11710892|PMID:11807557|PMID:11823453|PMID:11901046|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12106943|PMID:12123767|PMID:12193783|PMID:12208804|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12574983|PMID:12639704|PMID:12650885|PMID:12673799|PMID:12695286|PMID:12820704|PMID:12877697|PMID:12898257|PMID:14500339|PMID:14676229|PMID:14687250|PMID:14736542|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14990510|PMID:14998624|PMID:15028074|PMID:15047701|PMID:15051636|PMID:15120823|PMID:15136511|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15184283|PMID:15466642|PMID:15485686|PMID:15579534|PMID:15599693|PMID:15621041|PMID:15670972|PMID:15689442|PMID:15840476|PMID:15851227|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16039271|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16188595|PMID:16199547|PMID:16239976|PMID:16244680|PMID:16254012|PMID:16267253|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16521247|PMID:16540748|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:16980337|PMID:17075016|PMID:17088455|PMID:17118339|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17275750|PMID:17438607|PMID:17438610|PMID:17504259|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17698727|PMID:17892895|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18060054|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18436145|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18708744|PMID:18752142|PMID:18752973|PMID:18848812|PMID:18929331|PMID:18984535|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19083750|PMID:19167345|PMID:19167409|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19411664|PMID:19412328|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19808432|PMID:19841300|PMID:19843919|PMID:19843921|PMID:19862833|PMID:19863579|PMID:19996378|PMID:20031634|PMID:20090423|PMID:20102864|PMID:20102920|PMID:20110800|PMID:20129283|PMID:20137763|PMID:20339117|PMID:20384651|PMID:20403459|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20566482|PMID:20636320|PMID:20812931|PMID:20875080|PMID:20981092|PMID:21051419|PMID:21076026|PMID:21109022|PMID:21126620|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21193062|PMID:21216356|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21908450|PMID:21911102|PMID:22090165|PMID:22090166|PMID:22129298|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22360817|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22402334|PMID:22426227|PMID:22490985|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22685113|PMID:22705208|PMID:22710484|PMID:22721569|PMID:22766342|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22936642|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23158531|PMID:23174487|PMID:23293604|PMID:23321620|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23692053|PMID:23805106|PMID:23838598|PMID:23861362|PMID:23936059|PMID:23998552|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24218437|PMID:24317018|PMID:24332150|PMID:24349418|PMID:2437023|PMID:24388587|PMID:24573164|PMID:24596401|PMID:24599044|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24736382|PMID:24762805 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:2843 long QT syndrome ISO RGD:731255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:24784157|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24951663|PMID:24963427|PMID:25051102|PMID:25065297|PMID:25119684|PMID:25210054|PMID:25210526|PMID:25326637|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26125038|PMID:26132555|PMID:26150789|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26304620|PMID:26332594|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26803770|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27711072|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28183995|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28492532|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449963|PMID:29540853|PMID:29574140|PMID:29579189|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29915097|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30153324|PMID:30193851|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30385166|PMID:30497561|PMID:30609406|PMID:30755392|PMID:30758498|PMID:30828412|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31231243|PMID:31262209|PMID:31337358|PMID:31447099|PMID:31501239|PMID:31614475|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31900993|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32153684|PMID:32233023|PMID:32268277|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32746448|PMID:32893267|PMID:33071830|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33535892|PMID:33712541|PMID:34021086|PMID:34219138|PMID:34426522|PMID:34758253|PMID:35535697|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831|PMID:9686753|PMID:9716085 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:2843 long QT syndrome ISO RGD:731255 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:24784157|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24951663|PMID:24963427|PMID:25051102|PMID:25065297|PMID:25119684|PMID:25210054|PMID:25210526|PMID:25326637|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26125038|PMID:26132555|PMID:26150789|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26304620|PMID:26332594|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26803770|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27711072|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28183995|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28492532|PMID:28494446|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449963|PMID:29540853|PMID:29574140|PMID:29579189|PMID:29606593|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29915097|PMID:29956481|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30153324|PMID:30193851|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30385166|PMID:30497561|PMID:30609406|PMID:30690642|PMID:30755392|PMID:30758498|PMID:30828412|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31231243|PMID:31262209|PMID:31337358|PMID:31447099|PMID:31501239|PMID:31610692|PMID:31614475|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31900993|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32153684|PMID:32233023|PMID:32268277|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32746448|PMID:32893267|PMID:33071830|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33535892|PMID:33712541|PMID:34021086|PMID:34135346|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34758253|PMID:35052356|PMID:35535697|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831|PMID:9686753|PMID:9716085 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:18752142|PMID:18752973|PMID:22581653|PMID:25326637|PMID:25741868|PMID:25904541|PMID:28492532|PMID:30662450|PMID:32233023 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:6000 congestive heart failure ISO RGD:3637 D RGD:9068941 20200609 RGD mRNA:decreased expression:ventricle myocardium PMID:19584134|REF_RGD_ID:6484224 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:630 genetic disease ISO RGD:731255 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10471492|PMID:10940383|PMID:11710892|PMID:11901046|PMID:12736279|PMID:14523039|PMID:15655131|PMID:15840476|PMID:16453024|PMID:16684018|PMID:17210839|PMID:18378609|PMID:19251209|PMID:20100972|PMID:20129283|PMID:22581653|PMID:22766342|PMID:22840528|PMID:22999724|PMID:24631775|PMID:24768612|PMID:25274057|PMID:25741868|PMID:25904541|PMID:26173111|PMID:26820365|PMID:28104484|PMID:28492532|PMID:29574140|PMID:30847666|PMID:31776209|PMID:32893267|PMID:33221895|PMID:34930020|PMID:9753711 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:6364 migraine ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Migraine Disorders PMID:11804990|PMID:19056759|PMID:22581653|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9000060 Cardiac Conduction Defect, Nonspecific ISO RGD:731255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiac conduction defect, nonspecific PMID:11748104|PMID:12574143|PMID:14523039|PMID:16922724|PMID:18809926|PMID:19251209|PMID:19606473|PMID:19716085|PMID:20031634|PMID:20129283|PMID:20384651|PMID:20539757|PMID:22581653|PMID:22885917|PMID:24136861|PMID:24573164|PMID:24815523|PMID:24948852|PMID:25624448|PMID:25637381|PMID:25741868|PMID:26022185|PMID:26031372|PMID:26916278|PMID:27082542|PMID:28449774|PMID:28492532|PMID:28781330|PMID:29167113|PMID:29709101|PMID:29728395|PMID:30193851|PMID:30662450|PMID:30847666|PMID:31191357|PMID:31447099|PMID:31866066|PMID:31928070|PMID:31981491|PMID:32048431|PMID:32371921|PMID:32533946|PMID:32746448|PMID:32850980|PMID:33131149|PMID:34539730 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731255 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23785128|PMID:23791817|PMID:2380016|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:23963187|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24223155|PMID:24227891|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24524602|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24713084|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762593|PMID:24762805|PMID:24784157|PMID:24795344|PMID:24815523|PMID:24892747|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24963427|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25119684|PMID:25163546|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210526|PMID:25326637|PMID:25344691|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25460174|PMID:25525159|PMID:25554238|PMID:25616976|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25748040|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26066609|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26189708|PMID:26209461|PMID:26213684|PMID:26220391|PMID:26282245|PMID:26304136|PMID:26332594|PMID:26406308|PMID:26423924|PMID:26467025|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26656175|PMID:26669661|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26798387|PMID:26801742|PMID:26822237|PMID:26884609|PMID:26916278|PMID:27041150|PMID:27066507|PMID:27077130|PMID:27153395|PMID:27281089|PMID:27287068|PMID:27321809|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27668095|PMID:27676163|PMID:27707468|PMID:27711072|PMID:27816319|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28018021|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28166811|PMID:28183570|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28449774|PMID:28472724|PMID:28482396|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28637969|PMID:28638671|PMID:28725320|PMID:28734073|PMID:28739862|PMID:28779003|PMID:28781330|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:29016939|PMID:29032884|PMID:29121719|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29331327|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29874177|PMID:29884292|PMID:29915097|PMID:29997009|PMID:29998127|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30244407|PMID:30254039|PMID:30291343|PMID:30364184|PMID:30371189|PMID:30419068|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30700137|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31130284|PMID:31262209|PMID:31333075|PMID:31337358|PMID:31397097|PMID:31447099|PMID:31453232|PMID:31534214|PMID:31568572|PMID:31680123|PMID:31709321|PMID:31713545|PMID:31737537|PMID:31751991|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32153684|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32659924|PMID:32746448|PMID:32880476|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33535892|PMID:33712541|PMID:3953067|PMID:8661019|PMID:8972392|PMID:9521325|PMID:9536098 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:10508990|PMID:10532948|PMID:10618304|PMID:10690282|PMID:10711933|PMID:10727653|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11013131|PMID:11029409|PMID:11076825|PMID:11123251|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11417215|PMID:11463728|PMID:11710892|PMID:11786529|PMID:11804990|PMID:11807557|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12522116|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12820704|PMID:12898257|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14998624|PMID:15028074|PMID:15047701|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15266024|PMID:15277732|PMID:15466642|PMID:15466643|PMID:15520322|PMID:15556047|PMID:15579534|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15890323|PMID:15992732|PMID:15996170|PMID:15998675|PMID:15998690|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16267250|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16521247|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16643399|PMID:16684018|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16764707|PMID:16922724|PMID:17075016|PMID:17081365|PMID:17088455|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17404158|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17504259|PMID:17510181|PMID:17512504|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17697823|PMID:17854786|PMID:17892895|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18375968|PMID:18378609|PMID:18426444|PMID:18436145|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18503232|PMID:18508782|PMID:18596570|PMID:18599870|PMID:18708744|PMID:18752142|PMID:18752973|PMID:18848812|PMID:18849657|PMID:18976777|PMID:18984535|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19075524|PMID:19083750|PMID:19167345|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19561025|PMID:19564561|PMID:19597050|PMID:19606473|PMID:19632629|PMID:19648062|PMID:19666841|PMID:19706159|PMID:19716085|PMID:19799913|PMID:19808398|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19957170|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20110800|PMID:20123697|PMID:20129283|PMID:20137763|PMID:20384651|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20564468|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20812931|PMID:20875080|PMID:20877689|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21824921|PMID:21840964|PMID:21908450|PMID:21911102|PMID:22028457|PMID:22064211|PMID:22247482|PMID:22331908|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22402334|PMID:22407026|PMID:22426227|PMID:2247482|PMID:22490985|PMID:22519808|PMID:22529811|PMID:22557970|PMID:22581653|PMID:22675453|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22705208|PMID:22789973|PMID:22795782|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22936642|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23105938|PMID:23139254|PMID:23158531|PMID:23168001|PMID:23174487|PMID:23237912|PMID:23293604 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:23299917|PMID:23321620|PMID:23376825|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23424222|PMID:23425522|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23785128|PMID:23791817|PMID:2380016|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:23963187|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24223155|PMID:24227891|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24524602|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24713084|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762593|PMID:24762805|PMID:24775617|PMID:24784157|PMID:24795344|PMID:24815523|PMID:24892747|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24963427|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25119684|PMID:25163546|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210526|PMID:25261036|PMID:25326637|PMID:25344691|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25460174|PMID:25525159|PMID:25554238|PMID:25616976|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25748040|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26066609|PMID:26071830|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26189708|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26282245|PMID:26304136|PMID:26332594|PMID:26406308|PMID:26423924|PMID:26467025|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26656175|PMID:26669661|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26801742|PMID:26820365|PMID:26822237|PMID:26828384|PMID:26884609|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27041150|PMID:27066507|PMID:27077130|PMID:27153395|PMID:27281089|PMID:27287068|PMID:27321809|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27668095|PMID:27676163|PMID:27707468|PMID:27711072|PMID:27816319|PMID:27834932|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28018021|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28166811|PMID:28183570|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28316956|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28472724|PMID:28482396|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28589536|PMID:28600387|PMID:28637969|PMID:28638671|PMID:28725320|PMID:28734073|PMID:28739862|PMID:28779003|PMID:28781330|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:29016939|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29121719|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29309564|PMID:29325976|PMID:29331327|PMID:29349559|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29579189|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29874177|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29915097|PMID:29961767|PMID:29997009|PMID:29998127|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30218094|PMID:30244407|PMID:30254039|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30371189|PMID:30403391|PMID:30419068|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30670673|PMID:30690642|PMID:30700137|PMID:30755392|PMID:30828412 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:30847666|PMID:30972196|PMID:30975432|PMID:31019283|PMID:31020160|PMID:31032819|PMID:31043699|PMID:31130284|PMID:31231243|PMID:31262209|PMID:31333075|PMID:31337358|PMID:31397097|PMID:31447099|PMID:31453232|PMID:31470130|PMID:31514951|PMID:31534214|PMID:31535183|PMID:31568572|PMID:31638414|PMID:31680123|PMID:31696929|PMID:31709321|PMID:31713545|PMID:31737537|PMID:31751991|PMID:31776209|PMID:31866066|PMID:31901299|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32055599|PMID:32091595|PMID:32145446|PMID:32153684|PMID:32161207|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32389048|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32619740|PMID:32659924|PMID:32746448|PMID:32789579|PMID:32880476|PMID:32893267|PMID:33071830|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33213388|PMID:33221895|PMID:33232181|PMID:33258288|PMID:33338828|PMID:33500567|PMID:33535892|PMID:33712541|PMID:33764691|PMID:34019817|PMID:34021086|PMID:34092119|PMID:34127479|PMID:34219138|PMID:34426522|PMID:34620408|PMID:34755423|PMID:34758253|PMID:34930020|PMID:35535697|PMID:35663620|PMID:36197721|PMID:3953067|PMID:8661019|PMID:8972392|PMID:9521325|PMID:9536098|PMID:9716085 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:10508990|PMID:10532948|PMID:10618304|PMID:10690282|PMID:10711933|PMID:10727653|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11013131|PMID:11029409|PMID:11076825|PMID:11123251|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11417215|PMID:11463728|PMID:11710892|PMID:11786529|PMID:11804990|PMID:11807557|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12522116|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12820704|PMID:12898257|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14998624|PMID:15028074|PMID:15047701|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15266024|PMID:15277732|PMID:15466642|PMID:15466643|PMID:15520322|PMID:15556047|PMID:15579534|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15890323|PMID:15992732|PMID:15996170|PMID:15998675|PMID:15998690|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16267250|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16521247|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16643399|PMID:16684018|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16764707|PMID:16922724|PMID:17075016|PMID:17081365|PMID:17088455|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17404158|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17504259|PMID:17510181|PMID:17512504|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17697823|PMID:17854786|PMID:17892895|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18375968|PMID:18378609|PMID:18426444|PMID:18436145|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18503232|PMID:18508782|PMID:18596570|PMID:18599870|PMID:18708744|PMID:18752142|PMID:18752973|PMID:18848812|PMID:18849657|PMID:18976777|PMID:18984535|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19075524|PMID:19083750|PMID:19167345|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19561025|PMID:19564561|PMID:19597050|PMID:19606473|PMID:19632629|PMID:19648062|PMID:19666841|PMID:19706159|PMID:19716085|PMID:19799913|PMID:19808398|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19957170|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20110800|PMID:20123697|PMID:20129283|PMID:20137763|PMID:20384651|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20564468|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20812931|PMID:20875080|PMID:20877689|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21824921|PMID:21840964|PMID:21908450|PMID:21911102|PMID:22028457|PMID:22064211|PMID:22247482|PMID:22331908|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22402334|PMID:22407026|PMID:22426227|PMID:2247482|PMID:22490985|PMID:22519808|PMID:22529811|PMID:22557970|PMID:22581653|PMID:22675453|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22705208|PMID:22789973|PMID:22795782|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22936642|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23085483|PMID:23091201|PMID:23098067|PMID:23105938|PMID:23139254|PMID:23158531|PMID:23168001|PMID:23174487|PMID:23237912 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:23293604|PMID:23299917|PMID:23321620|PMID:23376825|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23424222|PMID:23425522|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23785128|PMID:23791817|PMID:2380016|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:23963187|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24223155|PMID:24227891|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24363352|PMID:2437023|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24524602|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24713084|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762593|PMID:24762805|PMID:24775617|PMID:24784157|PMID:24795344|PMID:24815523|PMID:24892747|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24963427|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25119684|PMID:25163546|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210526|PMID:25261036|PMID:25326637|PMID:25344691|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25460174|PMID:25525159|PMID:25554238|PMID:25616976|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25748040|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26066609|PMID:26071830|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26132555|PMID:26136871|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26189708|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26282245|PMID:26304136|PMID:26332594|PMID:26406308|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26656175|PMID:26669661|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26801742|PMID:26820365|PMID:26822237|PMID:26828384|PMID:26884609|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27041150|PMID:27066507|PMID:27077130|PMID:27108952|PMID:27153395|PMID:27281089|PMID:27287068|PMID:27321809|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27668095|PMID:27676163|PMID:27707468|PMID:27711072|PMID:27816319|PMID:27834932|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28018021|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28166811|PMID:28183570|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28316956|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28472724|PMID:28482396|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28589536|PMID:28600387|PMID:28637969|PMID:28638671|PMID:28725320|PMID:28734073|PMID:28739862|PMID:28779003|PMID:28781330|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:29016939|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29121719|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29309564|PMID:29325976|PMID:29331327|PMID:29349559|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29579189|PMID:29606593|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29766885|PMID:29773157|PMID:29790872|PMID:29791480|PMID:29874177|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29915097|PMID:29956481|PMID:29961767|PMID:29997009|PMID:29998127|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30218094|PMID:30244407|PMID:30246897|PMID:30254039|PMID:30291343|PMID:30364184|PMID:30369311 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:30371189|PMID:30403391|PMID:30419068|PMID:30532816|PMID:30609406|PMID:30615648|PMID:30662450|PMID:30670673|PMID:30690642|PMID:30700137|PMID:30755392|PMID:30775854|PMID:30828412|PMID:30847666|PMID:30972196|PMID:30975432|PMID:31019283|PMID:31020160|PMID:31032819|PMID:31043699|PMID:31130284|PMID:31231243|PMID:31262209|PMID:31333075|PMID:31337358|PMID:31397097|PMID:31447099|PMID:31453232|PMID:31470130|PMID:31514951|PMID:31534214|PMID:31535183|PMID:31568572|PMID:31610692|PMID:31638414|PMID:31680123|PMID:31696929|PMID:31709321|PMID:31713545|PMID:31737537|PMID:31751991|PMID:31776209|PMID:31866066|PMID:31901299|PMID:31918855|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32055599|PMID:32091595|PMID:32145446|PMID:32153684|PMID:32161207|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32389048|PMID:32431610|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32508047|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32619740|PMID:32659924|PMID:32746448|PMID:32789579|PMID:32880476|PMID:32893267|PMID:33071830|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33213388|PMID:33221895|PMID:33232181|PMID:33258288|PMID:33338828|PMID:33500567|PMID:33535892|PMID:33712541|PMID:33764691|PMID:34019817|PMID:34021086|PMID:34092119|PMID:34127479|PMID:34135346|PMID:34219138|PMID:34302607|PMID:34379075|PMID:34426522|PMID:34620408|PMID:34755423|PMID:34758253|PMID:34930020|PMID:34935411|PMID:35052356|PMID:35284542|PMID:35535697|PMID:35663620|PMID:36129056|PMID:36197721|PMID:3953067|PMID:8661019|PMID:8972392|PMID:9521325|PMID:9536098|PMID:9716085 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9000184 Ventricular Fibrillation ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:10940383|PMID:11827685|PMID:14961552|PMID:15266024|PMID:17141278|PMID:17675083|PMID:17993325|PMID:19026623|PMID:22247482|PMID:22581653|PMID:23139254|PMID:24190697|PMID:25326637|PMID:25741868|PMID:26798387|PMID:28492532|PMID:30609406|PMID:33221895 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:12354768|PMID:12820704|PMID:15466642|PMID:15840476|PMID:16540748|PMID:17161064|PMID:17210839|PMID:18071069|PMID:18452873|PMID:19412328|PMID:20403459|PMID:20875080|PMID:22378279|PMID:22581653|PMID:23008441|PMID:23098067|PMID:24033266|PMID:24653702|PMID:25741868|PMID:26209461|PMID:26467025|PMID:26749013|PMID:27287068|PMID:28265756|PMID:28492532|PMID:28781330|PMID:29032884 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9000526 DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES ISO RGD:731255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay, impaired speech, and behavioral abnormalities PMID:25741868|PMID:28492532 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9000543 Death ISO RGD:731255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Death in early adulthood PMID:11997281|PMID:14760488|PMID:15840476|PMID:18071069|PMID:19716085|PMID:19841300|PMID:20129283|PMID:20486126|PMID:22378279|PMID:22581653|PMID:23414114|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24613995|PMID:24713084|PMID:25637381|PMID:25650408|PMID:25741868|PMID:26669661|PMID:27153395|PMID:27435932|PMID:27930701|PMID:28412158|PMID:28492532|PMID:28798025|PMID:29728395|PMID:29874177|PMID:30079003|PMID:30193851|PMID:31262209|PMID:31737537|PMID:32516855 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9000727 Syncope ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syncope PMID:25741868 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9001436 Immunodeficiency 68 ISO RGD:731255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY PMID:28492532 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:10508990|PMID:10961955|PMID:10973849|PMID:17210839|PMID:17210841|PMID:17646591|PMID:18451998|PMID:19716085|PMID:19841300|PMID:22378279|PMID:22581653|PMID:22685113|PMID:23465283|PMID:24033266|PMID:24055113|PMID:24144883|PMID:24613995|PMID:24631775|PMID:25210526|PMID:25351510|PMID:25410959|PMID:25637381|PMID:25741868|PMID:25904541|PMID:26743238|PMID:26746457|PMID:26822237|PMID:28341588|PMID:28412158|PMID:28492532|PMID:28988457|PMID:29247119|PMID:29331327|PMID:29764897|PMID:29790872|PMID:30847666|PMID:31019283|PMID:31043699|PMID:32048431|PMID:34426522 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9002081 Long QT Syndrome 2/3 ISO RGD:731255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2/3, digenic PMID:16922724|PMID:22581653|PMID:22685113|PMID:23396983|PMID:23861362|PMID:24606995|PMID:25741868|PMID:28492532|PMID:28988457|PMID:29728395 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9002643 Long QT Syndrome 3/6 ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 3/6, digenic PMID:10200053|PMID:10508990|PMID:10618304|PMID:10772658|PMID:10973849|PMID:12574983|PMID:15051636|PMID:15184283|PMID:15621041|PMID:15670972|PMID:16922724|PMID:19167409|PMID:19716085|PMID:19841300|PMID:19863579|PMID:20090423|PMID:20129283|PMID:22360817|PMID:22581653|PMID:24218437|PMID:25904541|PMID:28492532|PMID:9495298|PMID:9506831 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:10377081|PMID:10448858|PMID:10471492|PMID:10508990|PMID:10690282|PMID:10711933|PMID:10727653|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11013131|PMID:11076825|PMID:11123251|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11410597|PMID:11417215|PMID:11463728|PMID:11535573|PMID:11710892|PMID:11748104|PMID:11786529|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12106943|PMID:12123767|PMID:12193783|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12522116|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12598077|PMID:12639704|PMID:12650885|PMID:12673799|PMID:12693506|PMID:12695286|PMID:12820704|PMID:12877697|PMID:14500339|PMID:14523039|PMID:14607451|PMID:14654377|PMID:14676229|PMID:14687250|PMID:14736542|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14990510|PMID:15023552|PMID:15028074|PMID:15051636|PMID:15121794|PMID:15136511|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15266024|PMID:15338453|PMID:15466642|PMID:15466643|PMID:15556047|PMID:15579534|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15828879|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15890323|PMID:15910881|PMID:15992732|PMID:15996170|PMID:15998675|PMID:15998690|PMID:16039271|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16254012|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16521247|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16643399|PMID:16684018|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16764707|PMID:16864729|PMID:16922724|PMID:16980337|PMID:17075016|PMID:17088455|PMID:17118339|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17504259|PMID:17512504|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17697823|PMID:17698727|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18245395|PMID:18252757|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18465145|PMID:18503232|PMID:18508782|PMID:18599870|PMID:18616619|PMID:18697752|PMID:18708744|PMID:18752142|PMID:18809926|PMID:18849657|PMID:18929331|PMID:18976777|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19029124|PMID:19056759|PMID:19083750|PMID:19167345|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19411664|PMID:19412328|PMID:19564561|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19808398|PMID:19808440|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19957170|PMID:19996378|PMID:20022821|PMID:20031634|PMID:20102864|PMID:20110800|PMID:20123697|PMID:20129283|PMID:20345624|PMID:20381179|PMID:20384651|PMID:20395683|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20728579|PMID:20812931|PMID:20875080|PMID:20960617|PMID:20960618|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21193062|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21566136|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21824921|PMID:21840964|PMID:21911102|PMID:22028457|PMID:22090165|PMID:22090166|PMID:22129298|PMID:22247482|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22407026|PMID:22426227|PMID:2247482|PMID:22490985|PMID:22519808 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:22557970|PMID:22581653|PMID:22675453|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22705208|PMID:22717692|PMID:22721569|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22936642|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23105938|PMID:23139254|PMID:23158531|PMID:23168001|PMID:23174487|PMID:23293604|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23425522|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23785128|PMID:23791817|PMID:2380016|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:23963187|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24223155|PMID:24227891|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24363352|PMID:24365614|PMID:2437023|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24524602|PMID:24529773|PMID:24573164|PMID:24581105|PMID:24582607|PMID:24596401|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762593|PMID:24762805|PMID:24768612|PMID:24784157|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24895455|PMID:24948852|PMID:24951569|PMID:24951663|PMID:24963427|PMID:24972929|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25119684|PMID:25163546|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210526|PMID:25326637|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25460174|PMID:25467552|PMID:25481746|PMID:25525159|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26031372|PMID:26036855|PMID:26066609|PMID:26071830|PMID:26111534|PMID:26125038|PMID:26129877|PMID:26131924|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26189708|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26282245|PMID:26283144|PMID:26304136|PMID:26332594|PMID:26392562|PMID:26406308|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26656175|PMID:26669661|PMID:26680202|PMID:26713557|PMID:26724572|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26801742|PMID:26803770|PMID:26820365|PMID:26822237|PMID:26828384|PMID:26884609|PMID:26888838|PMID:26916278|PMID:26941339|PMID:27000522|PMID:27026747|PMID:27041150|PMID:27066507|PMID:27077130|PMID:27082542|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27321809|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27668095|PMID:27676163|PMID:27707468|PMID:27711072|PMID:27784737|PMID:27810048|PMID:27834932|PMID:27871843|PMID:27896284|PMID:27930354|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28104484|PMID:28150151|PMID:28166811|PMID:28183570|PMID:28202948|PMID:28262340|PMID:28265756|PMID:28301460|PMID:28316956|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28344931|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28482396|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28567303|PMID:28589536|PMID:28600387|PMID:28637969|PMID:28638671|PMID:28725320|PMID:28734073|PMID:28781330|PMID:28781849|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29121719|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29309564|PMID:29325976|PMID:29331327|PMID:29349559|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:29544605|PMID:29574140|PMID:29579189|PMID:29606593|PMID:29652902|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29766885|PMID:29773157|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29915097|PMID:29956481|PMID:29961767|PMID:29997009|PMID:29998127|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30146492|PMID:30153324|PMID:30193851|PMID:30203441|PMID:30218094|PMID:30244407|PMID:30254039|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30371189|PMID:30385166|PMID:30419068|PMID:30476647|PMID:30497561|PMID:30532816|PMID:30609406|PMID:30615648|PMID:30662450|PMID:30670673|PMID:30690642|PMID:30755392|PMID:30758498|PMID:30775854|PMID:30847666|PMID:30935997|PMID:30972196|PMID:30975432|PMID:31019283|PMID:31020160|PMID:31032819|PMID:31043699|PMID:31130284|PMID:31191357|PMID:31231243|PMID:31262209|PMID:31333075|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31501239|PMID:31514951|PMID:31522937|PMID:31535183|PMID:31568572|PMID:31610692|PMID:31638414|PMID:31694554|PMID:31696929|PMID:31737537|PMID:31751991|PMID:31776209|PMID:31866066|PMID:31901299|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32055599|PMID:32091595|PMID:32096284|PMID:32145446|PMID:32153684|PMID:32161207|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32371921|PMID:32383558|PMID:32389048|PMID:32431610|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32508047|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32619740|PMID:32659924|PMID:32746448|PMID:32850980|PMID:32880476|PMID:32893267|PMID:32931854|PMID:33083013|PMID:33084224|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33258288|PMID:33338828|PMID:33500567|PMID:33535892|PMID:33712541|PMID:33764691|PMID:33789662|PMID:34019817|PMID:34021086|PMID:34092119|PMID:34122134|PMID:34135346|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34539730|PMID:34620408|PMID:34755423|PMID:34758253|PMID:34930020|PMID:34935411|PMID:35052356|PMID:35284542|PMID:35535697|PMID:35663620|PMID:36129056|PMID:36197721|PMID:3953067|PMID:7651517|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8661019|PMID:8663992|PMID:8917568|PMID:8972392|PMID:9521325|PMID:9536098|PMID:9716085 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9003163 Heart Block ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:10508990|PMID:10961955|PMID:10973849|PMID:17210839|PMID:17210841|PMID:17646591|PMID:18451998|PMID:19716085|PMID:19841300|PMID:22378279|PMID:22581653|PMID:22685113|PMID:23465283|PMID:24033266|PMID:24055113|PMID:24144883|PMID:24613995|PMID:24631775|PMID:25210526|PMID:25351510|PMID:25410959|PMID:25637381|PMID:25741868|PMID:25904541|PMID:26743238|PMID:26746457|PMID:26822237|PMID:28341588|PMID:28412158|PMID:28492532|PMID:28988457|PMID:29247119|PMID:29331327|PMID:29764897|PMID:29790872|PMID:30847666|PMID:31019283|PMID:31043699|PMID:32048431|PMID:34426522 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9003450 Nonprogressive Heart Block ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart block, nonprogressive PMID:10471492 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9003705 Sick Sinus Syndrome 1, Autosomal Recessive ISO RGD:731255 D RGD:7240710 20180130 OMIM 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9003705 Sick Sinus Syndrome 1, Autosomal Recessive ISO RGD:731255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: SINUS RHYTHM, CONGENITAL ABSENCE OF | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26680202|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26822237|PMID:26884609|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27066507|PMID:27077130|PMID:27082542|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28412158|PMID:28416588|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28638671|PMID:28725320|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29331327|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31191357|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32323320|PMID:32371921|PMID:32431610|PMID:32470535|PMID:32533946|PMID:32746448|PMID:32850980|PMID:32880476|PMID:32893267|PMID:33083013|PMID:33084224|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34426522|PMID:34539730|PMID:34930020|PMID:8661019|PMID:9536098|PMID:9716085 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9003705 Sick Sinus Syndrome 1, Autosomal Recessive ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive PMID:10508990|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11222472|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12123767|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12820704|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15266024|PMID:15338453|PMID:15466642|PMID:15556047|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18809926|PMID:18849657|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20384651|PMID:20403459|PMID:20448214|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21840964|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23174487|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24895455|PMID:24948852|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210526|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26031372|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26214305 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9003705 Sick Sinus Syndrome 1, Autosomal Recessive ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive PMID:26220391|PMID:26282245|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26680202|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26822237|PMID:26884609|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27066507|PMID:27077130|PMID:27082542|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28638671|PMID:28725320|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29331327|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31191357|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31610692|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32323320|PMID:32371921|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32533946|PMID:32746448|PMID:32850980|PMID:32880476|PMID:32893267|PMID:33083013|PMID:33084224|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34539730|PMID:34930020|PMID:34935411|PMID:36129056|PMID:8661019|PMID:9536098|PMID:9716085 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9004416 Paroxysmal Ventricular Fibrillation ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paroxysmal familial ventricular fibrillation PMID:16453024|PMID:20110800|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10377081|PMID:10508990|PMID:10727653|PMID:10807545|PMID:10807547|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11274952|PMID:11304498|PMID:11410597|PMID:11463728|PMID:11535573|PMID:11710892|PMID:11823453|PMID:11901046|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12106943|PMID:12193783|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12650885|PMID:12695286|PMID:12820704|PMID:12877697|PMID:14500339|PMID:14687250|PMID:14736542|PMID:14753626|PMID:14760488|PMID:14985827|PMID:14990510|PMID:15028074|PMID:15051636|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15466642|PMID:15579534|PMID:15599693|PMID:15689442|PMID:15840476|PMID:15851227|PMID:15992732|PMID:15996170|PMID:16039271|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16254012|PMID:16267253|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:16980337|PMID:17075016|PMID:17088455|PMID:17118339|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17275750|PMID:17438610|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17892895|PMID:17905336|PMID:17967976|PMID:17993325|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18508782|PMID:18752142|PMID:18929331|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19083750|PMID:19167345|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19406494|PMID:19411664|PMID:19412328|PMID:19606473|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20110800|PMID:20129283|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20541041|PMID:20566482|PMID:20812931|PMID:20875080|PMID:21051419|PMID:21126620|PMID:21185501|PMID:21193062|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21498565|PMID:21621375|PMID:21622575|PMID:21911102|PMID:22090165|PMID:22090166|PMID:22129298|PMID:22331908|PMID:22337857|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22581653|PMID:22685113|PMID:22705208|PMID:22721569|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22936642|PMID:22984773|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23158531|PMID:23174487|PMID:23321620|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23805106|PMID:23838598|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24332150|PMID:24349418|PMID:2437023|PMID:24573164|PMID:24596401|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24871449|PMID:24951663|PMID:25051102|PMID:25065297|PMID:25210526|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26125038|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26332594|PMID:26412604|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26803770|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27930701|PMID:28087622|PMID:28150151|PMID:28183995|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28492532|PMID:28494446|PMID:28567303|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29540853|PMID:29579189|PMID:29606593 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29956481|PMID:30059973|PMID:30079003|PMID:30193851|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30385166|PMID:30497561|PMID:30609406|PMID:30690642|PMID:30755392|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31231243|PMID:31262209|PMID:31447099|PMID:31501239|PMID:31610692|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32153684|PMID:32268277|PMID:32437023|PMID:32449611|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32746448|PMID:32893267|PMID:33131149|PMID:33221895|PMID:33338828|PMID:33712541|PMID:34135346|PMID:34379075|PMID:34426522|PMID:34758253|PMID:35052356|PMID:35535697|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9716085 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9005141 Ventricular Tachycardia ISO RGD:731255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:10807545|PMID:11901046|PMID:14967853|PMID:15176425|PMID:15851227|PMID:15992732|PMID:15996170|PMID:16379539|PMID:17210839|PMID:17210841|PMID:17587741|PMID:18378609|PMID:18426444|PMID:19027780|PMID:19412328|PMID:19632629|PMID:19841300|PMID:20129283|PMID:20636320|PMID:21109022|PMID:21167004|PMID:21705349|PMID:22378279|PMID:22581653|PMID:22677073|PMID:22685113|PMID:22840528|PMID:22995991|PMID:23299917|PMID:23414114|PMID:23465283|PMID:23571586|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24317018|PMID:24667783|PMID:24721456|PMID:24721642|PMID:25554238|PMID:25637381|PMID:25741868|PMID:26159999|PMID:26406308|PMID:26467025|PMID:26743238|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27711072|PMID:28087566|PMID:28341781|PMID:28492532|PMID:31043699|PMID:31918855 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9005444 Torsades de Pointes ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Torsades de pointes PMID:17161064|PMID:22581653|PMID:25741868|PMID:28492532|PMID:30079003 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9006030 Infant Death ISO RGD:731255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Death in infancy PMID:11901046|PMID:11997281|PMID:14753626|PMID:14760488|PMID:15840476|PMID:18071069|PMID:18708744|PMID:19716085|PMID:19841300|PMID:20129283|PMID:20486126|PMID:21167176|PMID:22378279|PMID:22426227|PMID:22581653|PMID:22840528|PMID:22984773|PMID:23414114|PMID:23631430|PMID:23805106|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24613995|PMID:24631775|PMID:24713084|PMID:24721456|PMID:24892747|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25904541|PMID:26159999|PMID:26332594|PMID:26467025|PMID:26538325|PMID:26669661|PMID:26746457|PMID:27153395|PMID:27435932|PMID:27930701|PMID:28412158|PMID:28492532|PMID:28794082|PMID:28798025|PMID:28988457|PMID:29728395|PMID:29874177|PMID:30079003|PMID:30153324|PMID:30193851|PMID:30847666|PMID:31262209|PMID:31737537|PMID:32516855|PMID:34021086 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9006508 Cardiac Conduction Defect, Nonprogressive ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac conduction defect, nonprogressive PMID:11234013|PMID:19251209|PMID:22581653 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9007 sudden infant death syndrome ISO RGD:731255 D RGD:7240710 20230505 OMIM 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9007 sudden infant death syndrome ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME | ClinVar Annotator: match by term: Sudden Infant Death PMID:10807545|PMID:10807547|PMID:10940383|PMID:10966831|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12820704|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14985827|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15266024|PMID:15466642|PMID:15485686|PMID:15599693|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17438607|PMID:17438610|PMID:17605181|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17967976|PMID:17993325|PMID:18071069|PMID:18093912|PMID:18156160|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18452873|PMID:18452875|PMID:18508782|PMID:18596570|PMID:18809926|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20038812|PMID:20129283|PMID:20384651|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20646679|PMID:20875080|PMID:20981092|PMID:21051419|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21498565|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21840964|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23299917|PMID:23321620|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23936059|PMID:23998552|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24332150|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24784157|PMID:24815523|PMID:24948852|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26031372|PMID:26111534|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26680202|PMID:26713557|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26916278|PMID:27077130|PMID:27082542|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27711072|PMID:27810048|PMID:27930701|PMID:28069705|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28600387 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9007 sudden infant death syndrome ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME | ClinVar Annotator: match by term: Sudden Infant Death PMID:28638671|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29396561|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29517769|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29884292|PMID:29895855|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30609406|PMID:30662450|PMID:30847666|PMID:30972196|PMID:31043699|PMID:31191357|PMID:31447099|PMID:31470130|PMID:31610692|PMID:31737537|PMID:31866066|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32161207|PMID:32233023|PMID:32323320|PMID:32371921|PMID:32431610|PMID:32449611|PMID:32533946|PMID:32746448|PMID:32850980|PMID:32893267|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34539730|PMID:34930020|PMID:34935411|PMID:36129056|PMID:8661019|PMID:9716085 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:25741868 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9007820 Sudden Death ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:17210839|PMID:17210841|PMID:19716085|PMID:20129283|PMID:22581653|PMID:24033266|PMID:25741868|PMID:27332903|PMID:28492532|PMID:32533946 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9007925 Sudden Cardiac Death ISO RGD:731255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death PMID:15851227|PMID:16712702|PMID:18378609|PMID:18508782|PMID:19564561|PMID:19841300|PMID:19862833|PMID:20102864|PMID:20129283|PMID:22581653|PMID:22984773|PMID:23631430|PMID:23671135|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:25904541|PMID:26746457|PMID:27000522|PMID:28492532|PMID:30254039|PMID:30662450|PMID:32533946|PMID:32746448|PMID:32880476|PMID:33131149|PMID:33221895|PMID:34620408 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9008021 Familial Atrial Fibrillation 10 ISO RGD:731255 D RGD:7240710 20180130 OMIM 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9008021 Familial Atrial Fibrillation 10 ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 10 PMID:10711933|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10966831|PMID:11076825|PMID:11123251|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12522116|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12820704|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14985827|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15266024|PMID:15466642|PMID:15466643|PMID:15579534|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998690|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16684018|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17438607|PMID:17438610|PMID:17605181|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18452873|PMID:18452875|PMID:18508782|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19406494|PMID:19412328|PMID:19606473|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20129283|PMID:20384651|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20646679|PMID:20875080|PMID:20981092|PMID:21051419|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21824921|PMID:21840964|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22581653|PMID:22682427|PMID:22685113|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23299917|PMID:23321620|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23791817|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24332150|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24951569|PMID:24951663|PMID:24963427|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26680202|PMID:26713557|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26916278|PMID:27077130|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27711072|PMID:27810048|PMID:27930701|PMID:28069705|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28391114|PMID:28438721 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9008021 Familial Atrial Fibrillation 10 ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 10 PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28600387|PMID:28637969|PMID:28638671|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29396561|PMID:29431662|PMID:29449639|PMID:29517769|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29579189|PMID:29672598|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29884292|PMID:29895855|PMID:29915097|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30609406|PMID:30662450|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31447099|PMID:31470130|PMID:31610692|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32323320|PMID:32431610|PMID:32449611|PMID:32533946|PMID:32746448|PMID:32893267|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34930020|PMID:34935411|PMID:36129056|PMID:3953067|PMID:8661019|PMID:9716085 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:731255 D RGD:7240710 20180130 OMIM 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:10508990|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11222472|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12820704|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15266024|PMID:15338453|PMID:15466642|PMID:15556047|PMID:15599693|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17438607|PMID:17438610|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18849657|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21840964|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23174487|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24784157|PMID:24815523|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26282245|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26680202|PMID:26713557|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:26820365|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27077130|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28638671|PMID:28725320|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30847666|PMID:30972196|PMID:31043699|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31610692|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32323320|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32533946|PMID:32746448|PMID:32880476|PMID:32893267|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34930020|PMID:34935411|PMID:36129056|PMID:8661019|PMID:9536098|PMID:9716085 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9009094 Progressive Familial Heart Block Type I ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I | ClinVar Annotator: match by term: Heart block progressive familial type 1 PMID:10471492|PMID:10508990|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11222472|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12820704|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15266024|PMID:15338453|PMID:15466642|PMID:15556047|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17438607|PMID:17438610|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18849657|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21840964|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23174487|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24784157|PMID:24815523|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26282245|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26680202|PMID:26713557|PMID:26743238 11898467 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9009094 Progressive Familial Heart Block Type I ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I | ClinVar Annotator: match by term: Heart block progressive familial type 1 PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27077130|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28638671|PMID:28725320|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30847666|PMID:30972196|PMID:31043699|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31610692|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32323320|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32533946|PMID:32746448|PMID:32880476|PMID:32893267|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34930020|PMID:34935411|PMID:36129056|PMID:8661019|PMID:9536098|PMID:9716085 11898503 AVPR1B arginine vasopressin receptor 1B gene DOID:0050741 alcohol dependence ISO RGD:6502812 D RGD:9068941 20210709 RGD PMID:21309953|REF_RGD_ID:14700679 11898503 AVPR1B arginine vasopressin receptor 1B gene DOID:0060041 autism spectrum disorder ISO RGD:619562 D RGD:9068941 20200609 RGD DNA:SNP: :rs28632197, rs35369693 (human) PMID:27920663|REF_RGD_ID:14700652 11898503 AVPR1B arginine vasopressin receptor 1B gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:619562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11898503 AVPR1B arginine vasopressin receptor 1B gene DOID:12849 autistic disorder ISO RGD:619562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11898503 AVPR1B arginine vasopressin receptor 1B gene DOID:1540 parathyroid carcinoma ISO RGD:619562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11898503 AVPR1B arginine vasopressin receptor 1B gene DOID:1596 depressive disorder no_association ISO RGD:619562 D RGD:9068941 20200609 RGD associated with bipolar disorder;DNA:SNP: :multiple PMID:23068076|REF_RGD_ID:14700671 11898503 AVPR1B arginine vasopressin receptor 1B gene DOID:1596 depressive disorder treatment ISO RGD:62179 D RGD:9068941 20200609 RGD PMID:26700241|REF_RGD_ID:14700672 11898503 AVPR1B arginine vasopressin receptor 1B gene DOID:1596 depressive disorder treatment ISO RGD:6502812 D RGD:9068941 20210709 RGD PMID:24654684|REF_RGD_ID:14700666 11898503 AVPR1B arginine vasopressin receptor 1B gene DOID:2030 anxiety disorder treatment ISO RGD:62179 D RGD:9068941 20200609 RGD PMID:21956463|REF_RGD_ID:14700676 11898503 AVPR1B arginine vasopressin receptor 1B gene DOID:2030 anxiety disorder treatment ISO RGD:6502812 D RGD:9068941 20210709 RGD PMID:24654684|REF_RGD_ID:14700666 11898503 AVPR1B arginine vasopressin receptor 1B gene DOID:3312 bipolar disorder ISO RGD:619562 D RGD:9068941 20200609 RGD DNA:SNP: :rs28536160 (human) PMID:24012103|REF_RGD_ID:14700651 11898503 AVPR1B arginine vasopressin receptor 1B gene DOID:3324 mood disorder ISO RGD:619562 D RGD:9068941 20200609 RGD DNA:SNP: :rs28536160 (human) PMID:23962971|REF_RGD_ID:11528373 11898503 AVPR1B arginine vasopressin receptor 1B gene DOID:3324 mood disorder no_association ISO RGD:619562 D RGD:9068941 20200609 RGD DNA:SNP: :rs28373064, 35369693, rs28632197 (human) PMID:23962971|REF_RGD_ID:11528373 11898503 AVPR1B arginine vasopressin receptor 1B gene DOID:3829 pituitary adenoma ISO RGD:619562 D RGD:9068941 20200609 RGD PMID:28692683|REF_RGD_ID:14700668 11898503 AVPR1B arginine vasopressin receptor 1B gene DOID:630 genetic disease ISO RGD:619562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11898503 AVPR1B arginine vasopressin receptor 1B gene DOID:7004 ACTH-secreting pituitary adenoma ISO RGD:619562 D RGD:9068941 20200609 RGD PMID:23884782|REF_RGD_ID:14700670 11898503 AVPR1B arginine vasopressin receptor 1B gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:619562 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11898503 AVPR1B arginine vasopressin receptor 1B gene DOID:9005158 Cushing Syndrome ISO RGD:619562 D RGD:9068941 20200609 RGD PMID:23884782|REF_RGD_ID:14700670 11898503 AVPR1B arginine vasopressin receptor 1B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:619562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11898509 SETD9 SET domain containing 9 gene DOID:3070 high grade glioma ISO RGD:1602299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11898509 SETD9 SET domain containing 9 gene DOID:630 genetic disease ISO RGD:1602299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11898509 SETD9 SET domain containing 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11898528 CCDC125 coiled-coil domain containing 125 gene DOID:630 genetic disease ISO RGD:1604973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11898528 CCDC125 coiled-coil domain containing 125 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11898572 CTH cystathionine gamma-lyase gene DOID:0090142 cystathioninuria ISO RGD:732084 D RGD:7240710 20180130 OMIM 11898572 CTH cystathionine gamma-lyase gene DOID:0090142 cystathioninuria ISO RGD:732084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystathioninuria | ClinVar Annotator: match by term: Gamma-cystathionase deficiency PMID:12574942|PMID:15151507|PMID:18476726|PMID:19019829|PMID:19428278|PMID:20584029|PMID:23555315|PMID:25741868|PMID:28492532 11898572 CTH cystathionine gamma-lyase gene DOID:1059 intellectual disability ISO RGD:732084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11898572 CTH cystathionine gamma-lyase gene DOID:1909 melanoma ISO RGD:732084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25205294 11898572 CTH cystathionine gamma-lyase gene DOID:630 genetic disease ISO RGD:732084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11898572 CTH cystathionine gamma-lyase gene DOID:83 cataract ISO RGD:2443 D RGD:9068941 20200609 RGD PMID:15683713|REF_RGD_ID:1600763 11898572 CTH cystathionine gamma-lyase gene DOID:9002231 Fetal Growth Retardation ISO RGD:732084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28157488 11898572 CTH cystathionine gamma-lyase gene DOID:9007748 Retinal Neovascularization ISO RGD:732084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27273718 11898572 CTH cystathionine gamma-lyase gene DOID:9252 amino acid metabolic disorder ISO RGD:732084 D RGD:9068941 20200609 RGD cystathioninuria, OMIM:219500, 940delCT, T67I, Q240E PMID:12574942|REF_RGD_ID:1600761 11898572 CTH cystathionine gamma-lyase gene DOID:9279 hyperhomocysteinemia ISO RGD:732084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Homocysteine, total plasma, elevated PMID:15151507 11898598 FYB1 FYN binding protein 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1603714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 11898598 FYB1 FYN binding protein 1 gene DOID:630 genetic disease ISO RGD:1603714 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11898598 FYB1 FYN binding protein 1 gene DOID:9002574 Thrombocytopenia 3 ISO RGD:1603714 D RGD:7240710 20190315 OMIM 11898598 FYB1 FYN binding protein 1 gene DOID:9002574 Thrombocytopenia 3 ISO RGD:1603714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 3 PMID:25741868|PMID:25876182 11898598 FYB1 FYN binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11898622 OPTN optineurin gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:736202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 PMID:20428114|PMID:21802176|PMID:21852022|PMID:25741868|PMID:26203661|PMID:28492532 11898622 OPTN optineurin gene DOID:0060203 amyotrophic lateral sclerosis type 12 ISO RGD:736202 D RGD:7240710 20180130 OMIM 11898622 OPTN optineurin gene DOID:0060203 amyotrophic lateral sclerosis type 12 ISO RGD:736202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12 PMID:11834836|PMID:11978762|PMID:12208142|PMID:12789137|PMID:12939304|PMID:14597044|PMID:15226658|PMID:15312511|PMID:15326130|PMID:15370540|PMID:15547491|PMID:15557444|PMID:15761120|PMID:16148883|PMID:16199547|PMID:16205626|PMID:16358725|PMID:16619239|PMID:16885925|PMID:17122126|PMID:17293779|PMID:17359525|PMID:17389490|PMID:17615537|PMID:19096531|PMID:19145250|PMID:19172505|PMID:19672125|PMID:20428114|PMID:20671613|PMID:20981092|PMID:21074290|PMID:21217154|PMID:21220178|PMID:21550138|PMID:21613650|PMID:21852022|PMID:22402017|PMID:22708870|PMID:22892313|PMID:22995991|PMID:23062601|PMID:25333069|PMID:25741868|PMID:25943890|PMID:26467025|PMID:26503823|PMID:26566915|PMID:27485216|PMID:28492532|PMID:29411640|PMID:29650794|PMID:31108397|PMID:31198474|PMID:31838784|PMID:32028661|PMID:32579787|PMID:32893042 11898622 OPTN optineurin gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:736202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11898622 OPTN optineurin gene DOID:0080600 COVID-19 ISO RGD:736202 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11898622 OPTN optineurin gene DOID:0081294 neuronal intranuclear inclusion disease ISO RGD:736202 D RGD:9068941 20200609 RGD protein:increased expression:neuron, nucleus PMID:22318854|REF_RGD_ID:6480499 11898622 OPTN optineurin gene DOID:1067 open-angle glaucoma ISO RGD:736202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21059646|PMID:25096716 11898622 OPTN optineurin gene DOID:1067 open-angle glaucoma ISO RGD:736202 D RGD:9068941 20200609 RGD PMID:11834836|REF_RGD_ID:1600995 11898622 OPTN optineurin gene DOID:1067 open-angle glaucoma ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M98K (human) PMID:14627677|REF_RGD_ID:6480510 11898622 OPTN optineurin gene DOID:1067 open-angle glaucoma no_association ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:missense mutations, SNP: :multiple PMID:19096531|REF_RGD_ID:6480513 11898622 OPTN optineurin gene DOID:1067 open-angle glaucoma no_association ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M98K (human) PMID:16020311|REF_RGD_ID:6480509 11898622 OPTN optineurin gene DOID:1070 primary open angle glaucoma ISO RGD:736202 D RGD:7240710 20180130 OMIM 11898622 OPTN optineurin gene DOID:1070 primary open angle glaucoma ISO RGD:736202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:11834836|PMID:11978762|PMID:12208142|PMID:12789137|PMID:12939304|PMID:14597044|PMID:15226658|PMID:15312511|PMID:15326130|PMID:15370540|PMID:15547491|PMID:15557444|PMID:15761120|PMID:16148883|PMID:16199547|PMID:16205626|PMID:16358725|PMID:16619239|PMID:16885925|PMID:16972651|PMID:17122126|PMID:17293779|PMID:17359525|PMID:17389490|PMID:17576681|PMID:17615537|PMID:19096531|PMID:19145250|PMID:19172505|PMID:19672125|PMID:19710941|PMID:20388642|PMID:20428114|PMID:20671613|PMID:20981092|PMID:21074290|PMID:21217154|PMID:21220178|PMID:21408173|PMID:21550138|PMID:21613650|PMID:21802176|PMID:21852022|PMID:22366792|PMID:22402017|PMID:22708870|PMID:22722621|PMID:22892313|PMID:22995991|PMID:23062601|PMID:23357852|PMID:24683533|PMID:24983867|PMID:25333069|PMID:25382069|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25943890|PMID:26203661|PMID:26303227|PMID:26467025|PMID:26503823|PMID:26566915|PMID:26740678|PMID:27485216|PMID:27620379|PMID:28089114|PMID:28492532|PMID:28882891|PMID:29411640|PMID:29525178|PMID:29525180|PMID:29540704|PMID:29558868|PMID:29650794|PMID:29895397|PMID:30519240|PMID:30739198|PMID:31000212|PMID:31108397|PMID:31198474|PMID:31759189|PMID:31788332|PMID:31838784|PMID:32028661|PMID:32579787|PMID:32893042|PMID:9536098 11898622 OPTN optineurin gene DOID:1070 primary open angle glaucoma no_association ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:SNPs:cds:p.T34T,E50K,M98K,R545Q, 691_692insAG, PMID:19172505|REF_RGD_ID:7775049 11898622 OPTN optineurin gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.M98K(human) PMID:15226658|REF_RGD_ID:7775043 11898622 OPTN optineurin gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:exons:c.412G>A,603T>A(human) PMID:15557444|REF_RGD_ID:7775041 11898622 OPTN optineurin gene DOID:12858 Huntington's disease ISO RGD:736202 D RGD:9068941 20200609 RGD protein:increased expression:neuron, nucleus PMID:22318854|REF_RGD_ID:6480499 11898622 OPTN optineurin gene DOID:13544 low tension glaucoma ISO RGD:733470 D RGD:9068941 20220825 MouseDO 11898622 OPTN optineurin gene DOID:13544 low tension glaucoma susceptibility ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:SNPs:exon,introns: PMID:16148883|REF_RGD_ID:7771548 11898622 OPTN optineurin gene DOID:13544 low tension glaucoma susceptibility ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.M98K(human) PMID:15226658|REF_RGD_ID:7775043 11898622 OPTN optineurin gene DOID:13544 low tension glaucoma susceptibility ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:exons:c.412G>A,603T>A(human) PMID:15557444|REF_RGD_ID:7775041 11898622 OPTN optineurin gene DOID:13641 exfoliation syndrome no_association ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M98K (human) PMID:16020311|REF_RGD_ID:6480509 11898622 OPTN optineurin gene DOID:13948 bladder neck obstruction ISO RGD:628886 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder: PMID:16361812|REF_RGD_ID:7775024 11898622 OPTN optineurin gene DOID:14330 Parkinson's disease ISO RGD:628886 D RGD:9068941 20200609 RGD protein:increased expression:substantia nigra (rat) PMID:27473339|REF_RGD_ID:13432580 11898622 OPTN optineurin gene DOID:1686 glaucoma susceptibility ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:SNP:intron: PMID:16148883|REF_RGD_ID:7771548 11898622 OPTN optineurin gene DOID:224 transient cerebral ischemia ISO RGD:628886 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (rat) PMID:24235151|REF_RGD_ID:13434905 11898622 OPTN optineurin gene DOID:231 motor neuron disease ISO RGD:736202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Motor neuron disease PMID:21613650|PMID:28089114|PMID:28492532|PMID:31000212|PMID:32028661 11898622 OPTN optineurin gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11898622 OPTN optineurin gene DOID:5408 Paget's disease of bone ISO RGD:736202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20436471|PMID:21059646 11898622 OPTN optineurin gene DOID:5408 Paget's disease of bone ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:SNP: :rs1561570 (human) PMID:20436471|REF_RGD_ID:6480512 11898622 OPTN optineurin gene DOID:576 proteinuria ISO RGD:628886 D RGD:9068941 20200609 RGD associated with Nephrosis, Puromycin Aminonucleoside;protein:increased expression:renal glomerulus (rat) PMID:25096716|REF_RGD_ID:13434904 11898622 OPTN optineurin gene DOID:630 genetic disease ISO RGD:736202 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11834836|PMID:12789137|PMID:12939304|PMID:14597044|PMID:15326130|PMID:16205626|PMID:16358725|PMID:17293779|PMID:17389490|PMID:17576681|PMID:17615537|PMID:19096531|PMID:19672125|PMID:20388642|PMID:20428114|PMID:21074290|PMID:21408173|PMID:21613650|PMID:21852022|PMID:22722621|PMID:22892313|PMID:25382069|PMID:25741868|PMID:25943890|PMID:26467025|PMID:26503823|PMID:28089114|PMID:28492532|PMID:28882891|PMID:29525178|PMID:29558868|PMID:30739198|PMID:31000212|PMID:32028661|PMID:32579787|PMID:9536098 11898622 OPTN optineurin gene DOID:8466 retinal degeneration ISO RGD:733470 D RGD:9068941 20200609 RGD PMID:20388642|REF_RGD_ID:6480507 11898622 OPTN optineurin gene DOID:891 progressive myoclonus epilepsy ISO RGD:736202 D RGD:9068941 20200609 RGD protein:increased expression:neuron, nucleus PMID:22318854|REF_RGD_ID:6480499 11898622 OPTN optineurin gene DOID:9000930 Dental Pulp Exposure ISO RGD:628886 D RGD:9068941 20200609 RGD mRNA:increased expression:dental pulp (rat) PMID:16109995|REF_RGD_ID:7775038 11898622 OPTN optineurin gene DOID:9001062 Normal Tension Glaucoma ISO RGD:736202 D RGD:7240710 20230505 OMIM 11898622 OPTN optineurin gene DOID:9001062 Normal Tension Glaucoma ISO RGD:736202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma, normal tension, susceptibility to PMID:11834836|PMID:11978762|PMID:12208142|PMID:15761120|PMID:16619239|PMID:25741868|PMID:28492532 11898622 OPTN optineurin gene DOID:9001600 Wounds and Injuries ISO RGD:628886 D RGD:9068941 20200609 RGD PMID:16109995|REF_RGD_ID:7775038 11898622 OPTN optineurin gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:736202 D RGD:9068941 20200609 RGD PMID:21360076|REF_RGD_ID:6480505 11898622 OPTN optineurin gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:736202 D RGD:9068941 20200609 RGD protein:increased expression:neuron, nucleus PMID:22318854|REF_RGD_ID:6480499 11898622 OPTN optineurin gene DOID:9007708 Glaucoma 1, Open Angle, E ISO RGD:736202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glaucoma 1, open angle, E | ClinVar Annotator: match by term: Glaucoma 1, open angle, e PMID:11834836|PMID:11978762|PMID:12208142|PMID:12939304|PMID:14597044|PMID:15226658|PMID:15312511|PMID:15326130|PMID:15370540|PMID:15547491|PMID:15557444|PMID:15761120|PMID:16148883|PMID:16199547|PMID:16205626|PMID:16619239|PMID:16885925|PMID:17293779|PMID:17359525|PMID:17389490|PMID:19145250|PMID:19172505|PMID:19672125|PMID:20428114|PMID:20671613|PMID:20981092|PMID:21217154|PMID:21220178|PMID:22402017|PMID:22708870|PMID:22995991|PMID:23062601|PMID:24683533|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26566915|PMID:26740678|PMID:27485216|PMID:28492532|PMID:29411640|PMID:30519240|PMID:30739198|PMID:31108397|PMID:31198474 11898622 OPTN optineurin gene DOID:9009017 Amyotrophic Lateral Sclerosis, Autosomal Recessive ISO RGD:736202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive 11898622 OPTN optineurin gene DOID:9255 frontotemporal dementia ISO RGD:736202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia 11898658 NTM neurotrimin gene DOID:0111723 Jacobsen Syndrome ISO RGD:1603310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11898658 NTM neurotrimin gene DOID:5419 schizophrenia ISO RGD:1603310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11898658 NTM neurotrimin gene DOID:630 genetic disease ISO RGD:1603310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11898658 NTM neurotrimin gene DOID:65 connective tissue disease ISO RGD:1603310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 11898658 NTM neurotrimin gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11898682 MYOF myoferlin gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:1343142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:24206907|PMID:28492532 11898682 MYOF myoferlin gene DOID:0080600 COVID-19 ISO RGD:1343142 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11898682 MYOF myoferlin gene DOID:630 genetic disease ISO RGD:1343142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11898682 MYOF myoferlin gene DOID:9003195 Hereditary Angioedema 7 ISO RGD:1343142 D RGD:7240710 20210616 OMIM 11898682 MYOF myoferlin gene DOID:9003195 Hereditary Angioedema 7 ISO RGD:1343142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angioedema, hereditary, 7 PMID:32542751 11898741 BTBD17 BTB domain containing 17 gene DOID:630 genetic disease ISO RGD:2301265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11898748 FOXP1 forkhead box P1 gene DOID:0050651 atrioventricular septal defect ISO RGD:1318576 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect PMID:25741868|PMID:28492532 11898748 FOXP1 forkhead box P1 gene DOID:0060041 autism spectrum disorder ISO RGD:1318576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11898748 FOXP1 forkhead box P1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1318576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:28492532|PMID:31474318 11898748 FOXP1 forkhead box P1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1318576 D RGD:9068941 20200609 RGD protein:altered expression:neocortex (human) PMID:22759905|REF_RGD_ID:11560525 11898748 FOXP1 forkhead box P1 gene DOID:0110106 atrial heart septal defect 1 ISO RGD:1318576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial septal defect 1 PMID:28492532 11898748 FOXP1 forkhead box P1 gene DOID:0111331 intellectual disability-severe speech delay-mild dysmorphism syndrome ISO RGD:1318576 D RGD:7240710 20180130 OMIM 11898748 FOXP1 forkhead box P1 gene DOID:0111331 intellectual disability-severe speech delay-mild dysmorphism syndrome ISO RGD:1318576 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual Disability with Language Impairment and Autistic Features | ClinVar Annotator: match by term: Intellectual disability-severe speech delay-mild dysmorphism syndrome | ClinVar Annotator: match by term: Mental retardation with language impairment and autistic features PMID:17405132|PMID:17576681|PMID:20848658|PMID:20950788|PMID:24214399|PMID:24498627|PMID:25131622|PMID:25326635|PMID:25363768|PMID:25575603|PMID:25741868|PMID:25767709|PMID:26633542|PMID:26647308|PMID:27657687|PMID:27824329|PMID:28492532|PMID:28653555|PMID:28708303|PMID:28714951|PMID:28735298|PMID:28741757|PMID:28884888|PMID:29142287|PMID:30385778|PMID:30564305|PMID:31199603|PMID:31474318|PMID:31618753|PMID:32860008|PMID:33427368|PMID:34109629|PMID:9536098 11898748 FOXP1 forkhead box P1 gene DOID:1059 intellectual disability ISO RGD:1318576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:17576681|PMID:25741868|PMID:26633542|PMID:26647308|PMID:28492532|PMID:28714951|PMID:28741757|PMID:31618753|PMID:9536098 11898748 FOXP1 forkhead box P1 gene DOID:12306 vitiligo ISO RGD:1318576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20526340 11898748 FOXP1 forkhead box P1 gene DOID:1255 trichostrongyloidiasis ISO RGD:1308669 D RGD:9068941 20200609 RGD mRNA:increased expression:duodenum (rat) PMID:21698235|REF_RGD_ID:11561920 11898748 FOXP1 forkhead box P1 gene DOID:12849 autistic disorder ISO RGD:1318576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 11898748 FOXP1 forkhead box P1 gene DOID:12858 Huntington's disease ISO RGD:1318576 D RGD:9068941 20200609 RGD mRNA:decreased expression:caudate nucleus (human) PMID:16405510|REF_RGD_ID:11560524 11898748 FOXP1 forkhead box P1 gene DOID:12858 Huntington's disease ISO RGD:1318577 D RGD:9068941 20200609 RGD mRNA:decreased expression:striatum (mouse) PMID:16405510|REF_RGD_ID:11560524 11898748 FOXP1 forkhead box P1 gene DOID:1682 congenital heart disease ISO RGD:1318576 D RGD:9068941 20200609 RGD DNA:missense mutation, deletion:cds, exons:p.P568S (human) PMID:23766104|REF_RGD_ID:11071913 11898748 FOXP1 forkhead box P1 gene DOID:1793 pancreatic cancer ISO RGD:1318576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25485836 11898748 FOXP1 forkhead box P1 gene DOID:1826 epilepsy ISO RGD:1318576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11898748 FOXP1 forkhead box P1 gene DOID:1923 disorder of sexual development ISO RGD:1318576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 11898748 FOXP1 forkhead box P1 gene DOID:255 hemangioma ISO RGD:1318576 D RGD:8554872 20221101 ClinVar ClinVar Annotator: match by term: Glabellar hemangioma PMID:25741868 11898748 FOXP1 forkhead box P1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1318576 D RGD:9068941 20220908 RGD mRNA:decreased expression:lung (human) PMID:22491060|REF_RGD_ID:153350086 11898748 FOXP1 forkhead box P1 gene DOID:3910 lung adenocarcinoma ISO RGD:1308669 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (rat) PMID:16023287|REF_RGD_ID:11561933 11898748 FOXP1 forkhead box P1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1318576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121790 11898748 FOXP1 forkhead box P1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1318576 D RGD:9068941 20200609 RGD DNA:snps:intron, enhancer:g.70959438A>G, g.70879779A>C (rs9837992, rs2687201) (human) PMID:26383589|REF_RGD_ID:11535321 11898748 FOXP1 forkhead box P1 gene DOID:540 strabismus ISO RGD:1318576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Strabismus PMID:25741868 11898748 FOXP1 forkhead box P1 gene DOID:5419 schizophrenia ISO RGD:1318576 D RGD:9068941 20200609 RGD DNA:snp:intron:g.71205600C>T (rsrs7372960) (human) PMID:26460480|REF_RGD_ID:11353286 11898748 FOXP1 forkhead box P1 gene DOID:6000 congestive heart failure ISO RGD:1318576 D RGD:9068941 20200609 RGD PMID:16952980|REF_RGD_ID:1582564 11898748 FOXP1 forkhead box P1 gene DOID:630 genetic disease ISO RGD:1318576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19352412|PMID:20848658|PMID:20950788|PMID:25326635|PMID:25741868|PMID:26633542|PMID:26647308|PMID:27657687|PMID:28492532|PMID:28714951|PMID:28735298|PMID:28741757|PMID:28884888|PMID:30385778|PMID:30564305|PMID:31199603|PMID:31474318|PMID:31618753|PMID:34109629|PMID:9536098 11898748 FOXP1 forkhead box P1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1318576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11898748 FOXP1 forkhead box P1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1308669 D RGD:9068941 20200609 RGD PMID:25156538|REF_RGD_ID:9587823 11898748 FOXP1 forkhead box P1 gene DOID:8283 peritonitis ISO RGD:1318576 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:18799727|REF_RGD_ID:11561898 11898748 FOXP1 forkhead box P1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1318576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25485836 11898748 FOXP1 forkhead box P1 gene DOID:9000998 Brain Injuries treatment ISO RGD:1308669 D RGD:9068941 20200609 RGD PMID:26842647|REF_RGD_ID:11561903 11898748 FOXP1 forkhead box P1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318576 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11898748 FOXP1 forkhead box P1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1318576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25485836 11898748 FOXP1 forkhead box P1 gene DOID:9008237 Hemimegalencephaly ISO RGD:1318576 D RGD:9068941 20200609 RGD protein:altered expression:neocortex (human) PMID:22759905|REF_RGD_ID:11560525 11898748 FOXP1 forkhead box P1 gene DOID:9008582 Developmental Disease ISO RGD:1318576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:30564305 11898748 FOXP1 forkhead box P1 gene DOID:9009087 Hypoplastic Left Heart Syndrome 1 ISO RGD:1318576 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome 1 PMID:25741868|PMID:28492532 11898748 FOXP1 forkhead box P1 gene DOID:9206 Barrett's esophagus ISO RGD:1318576 D RGD:9068941 20200609 RGD DNA:snp:enhancer:g.70879779A>C (rs2687201) (human) PMID:25447851|REF_RGD_ID:11560527 11898748 FOXP1 forkhead box P1 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1318576 D RGD:9068941 20200609 RGD mRNA:decreased expression:interatrial septum (human) PMID:18344372|REF_RGD_ID:11561899 11898786 GATD3 glutamine amidotransferase class 1 domain containing 3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1343023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 11898786 GATD3 glutamine amidotransferase class 1 domain containing 3 gene DOID:0110266 cataract 9 multiple types ISO RGD:1343023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11898786 GATD3 glutamine amidotransferase class 1 domain containing 3 gene DOID:12849 autistic disorder ISO RGD:1343023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11898786 GATD3 glutamine amidotransferase class 1 domain containing 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1343023 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11898786 GATD3 glutamine amidotransferase class 1 domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11898786 GATD3 glutamine amidotransferase class 1 domain containing 3 gene DOID:9263 homocystinuria ISO RGD:1343023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11898786 GATD3 glutamine amidotransferase class 1 domain containing 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11898803 XRCC6 X-ray repair cross complementing 6 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:732846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11898803 XRCC6 X-ray repair cross complementing 6 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:732846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 11898803 XRCC6 X-ray repair cross complementing 6 gene DOID:1749 squamous cell carcinoma ISO RGD:732846 D RGD:9068941 20200611 RGD protein:increased expression:epidermal cell, squamous cell of epidermis (human) PMID:16497868|REF_RGD_ID:8698657 11898803 XRCC6 X-ray repair cross complementing 6 gene DOID:2513 basal cell carcinoma ISO RGD:732846 D RGD:9068941 20200611 RGD protein:increased expression:epidermal cell, basal cell of epidermis (human) PMID:16497868|REF_RGD_ID:8698657 11898803 XRCC6 X-ray repair cross complementing 6 gene DOID:3910 lung adenocarcinoma ISO RGD:732846 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11898803 XRCC6 X-ray repair cross complementing 6 gene DOID:630 genetic disease ISO RGD:732846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11898803 XRCC6 X-ray repair cross complementing 6 gene DOID:9006205 Animal Disease Models ISO RGD:732846 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11898814 MNAT1 MNAT1 component of CDK activating kinase gene DOID:630 genetic disease ISO RGD:733503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11898814 MNAT1 MNAT1 component of CDK activating kinase gene DOID:9007844 Branchiootic Syndrome 3 ISO RGD:733503 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Branchiootic syndrome 3 PMID:25414181|PMID:28492532 11898837 BPIFB6 BPI fold containing family B member 6 gene DOID:630 genetic disease ISO RGD:1323145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11898855 UBXN6 UBX domain protein 6 gene DOID:13938 amenorrhea ISO RGD:1347744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11898855 UBXN6 UBX domain protein 6 gene DOID:630 genetic disease ISO RGD:1347744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11898870 ATF3 activating transcription factor 3 gene DOID:0050700 cardiomyopathy ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25136830 11898870 ATF3 activating transcription factor 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:10198 D RGD:9068941 20200609 RGD PMID:26522727|REF_RGD_ID:13506817 11898870 ATF3 activating transcription factor 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:735760 D RGD:9068941 20200609 RGD PMID:26522727|REF_RGD_ID:13506817 11898870 ATF3 activating transcription factor 3 gene DOID:10283 prostate cancer treatment ISO RGD:735760 D RGD:9068941 20200609 RGD PMID:26944919|REF_RGD_ID:13506816 11898870 ATF3 activating transcription factor 3 gene DOID:10892 hypospadias ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18001166 11898870 ATF3 activating transcription factor 3 gene DOID:1540 parathyroid carcinoma ISO RGD:735760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11898870 ATF3 activating transcription factor 3 gene DOID:2957 pulmonary tuberculosis ISO RGD:735760 D RGD:9068941 20200702 RGD mRNA,protein:increased expression:lung PMID:20856677|REF_RGD_ID:34888225 11898870 ATF3 activating transcription factor 3 gene DOID:3525 middle cerebral artery infarction ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 11898870 ATF3 activating transcription factor 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043644 11898870 ATF3 activating transcription factor 3 gene DOID:574 peripheral nervous system disease ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17686523 11898870 ATF3 activating transcription factor 3 gene DOID:630 genetic disease ISO RGD:735760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11898870 ATF3 activating transcription factor 3 gene DOID:863 nervous system disease ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18701217|PMID:18754875 11898870 ATF3 activating transcription factor 3 gene DOID:9001488 Human Influenza ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11898870 ATF3 activating transcription factor 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11898870 ATF3 activating transcription factor 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16516039 11898870 ATF3 activating transcription factor 3 gene DOID:9002762 Ovarian Neoplasms ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15674352 11898870 ATF3 activating transcription factor 3 gene DOID:9003936 Cardiomegaly ISO RGD:735760 D RGD:9068941 20200609 RGD PMID:11485922|REF_RGD_ID:7327201 11898870 ATF3 activating transcription factor 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 11898870 ATF3 activating transcription factor 3 gene DOID:9007188 Liver Neoplasms ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21159647 11898870 ATF3 activating transcription factor 3 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:735760 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:34364923 11898870 ATF3 activating transcription factor 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2165 D RGD:9068941 20200609 RGD PMID:11485922|REF_RGD_ID:7327201 11898870 ATF3 activating transcription factor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11898870 ATF3 activating transcription factor 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 11898886 UBE2U ubiquitin conjugating enzyme E2 U gene DOID:1059 intellectual disability ISO RGD:1606149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11898886 UBE2U ubiquitin conjugating enzyme E2 U gene DOID:630 genetic disease ISO RGD:1606149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11898899 SNCG synuclein gamma gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1345963 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:11536076|PMID:12417513|PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 11898899 SNCG synuclein gamma gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:736643 D RGD:9068941 20220825 MouseDO OMIM:105400 11898899 SNCG synuclein gamma gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1345963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 11898899 SNCG synuclein gamma gene DOID:0080855 Parkinsonism ISO RGD:736643 D RGD:9068941 20200609 RGD PMID:15147505|REF_RGD_ID:6478802 11898899 SNCG synuclein gamma gene DOID:10652 Alzheimer's disease ISO RGD:1345963 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:18577885|REF_RGD_ID:6478792 11898899 SNCG synuclein gamma gene DOID:12217 Lewy body dementia ISO RGD:1345963 D RGD:9068941 20200609 RGD PMID:20697047|REF_RGD_ID:6478704 11898899 SNCG synuclein gamma gene DOID:12217 Lewy body dementia ISO RGD:1345963 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:18577885|REF_RGD_ID:6478792 11898899 SNCG synuclein gamma gene DOID:12217 Lewy body dementia ISO RGD:1345963 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:10557341|REF_RGD_ID:6480095 11898899 SNCG synuclein gamma gene DOID:14330 Parkinson's disease ISO RGD:1345963 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:10557341|REF_RGD_ID:6480095 11898899 SNCG synuclein gamma gene DOID:1596 depressive disorder ISO RGD:70996 D RGD:9068941 20200609 RGD PMID:18800064|REF_RGD_ID:6218960 11898899 SNCG synuclein gamma gene DOID:1612 breast cancer disease_progression ISO RGD:1345963 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:16821081|REF_RGD_ID:6478795 11898899 SNCG synuclein gamma gene DOID:1686 glaucoma ISO RGD:1345963 D RGD:9068941 20200609 RGD PMID:18728752|REF_RGD_ID:6218971 11898899 SNCG synuclein gamma gene DOID:1686 glaucoma ISO RGD:70996 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:optic nerve PMID:11933054|REF_RGD_ID:6480100 11898899 SNCG synuclein gamma gene DOID:1793 pancreatic cancer ISO RGD:1345963 D RGD:9068941 20200609 RGD PMID:15221989|REF_RGD_ID:6478801 11898899 SNCG synuclein gamma gene DOID:305 carcinoma ISO RGD:1345963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11898899 SNCG synuclein gamma gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1345963 D RGD:9068941 20200609 RGD PMID:10934140|REF_RGD_ID:6480098 11898899 SNCG synuclein gamma gene DOID:630 genetic disease ISO RGD:1345963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11898899 SNCG synuclein gamma gene DOID:768 retinoblastoma ISO RGD:1345963 D RGD:9068941 20200609 RGD PMID:18728752|REF_RGD_ID:6218971 11898899 SNCG synuclein gamma gene DOID:8725 vascular dementia ISO RGD:1345963 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:18577885|REF_RGD_ID:6478792 11898899 SNCG synuclein gamma gene DOID:9000081 Lymphatic Metastasis ISO RGD:1345963 D RGD:9068941 20200609 RGD PMID:15221989|REF_RGD_ID:6478801 11898899 SNCG synuclein gamma gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1345963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11898899 SNCG synuclein gamma gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345963 D RGD:9068941 20200609 RGD DNA:hypomethylation: : PMID:16140929|REF_RGD_ID:6478797 11898899 SNCG synuclein gamma gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345963 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:16821081|REF_RGD_ID:6478795 11898899 SNCG synuclein gamma gene DOID:9000998 Brain Injuries ISO RGD:736643 D RGD:9068941 20200609 RGD PMID:14637093|REF_RGD_ID:6480195 11898899 SNCG synuclein gamma gene DOID:9002362 Hyperkinesis ISO RGD:1345963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18588534 11898899 SNCG synuclein gamma gene DOID:9002955 Nerve Degeneration ISO RGD:736643 D RGD:9068941 20200609 RGD PMID:19246516|REF_RGD_ID:6478696 11898899 SNCG synuclein gamma gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1345963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11898899 SNCG synuclein gamma gene DOID:9005632 Cocaine-Related Disorders ISO RGD:70996 D RGD:9068941 20200609 RGD PMID:20579003|REF_RGD_ID:6218958 11898899 SNCG synuclein gamma gene DOID:9007402 Gliosis ISO RGD:736643 D RGD:9068941 20200609 RGD PMID:19246516|REF_RGD_ID:6478696 11898899 SNCG synuclein gamma gene DOID:9008939 Breast Neoplasms ISO RGD:1345963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20595634 11898924 STAT2 signal transducer and activator of transcription 2 gene DOID:0060478 Zika fever susceptibility ISO RGD:1323217 D RGD:9068941 20210226 RGD human gene in a mouse model PMID:29746837|REF_RGD_ID:41789627 11898924 STAT2 signal transducer and activator of transcription 2 gene DOID:0060478 Zika fever susceptibility ISO RGD:1323218 D RGD:9068941 20210226 RGD PMID:28278235|REF_RGD_ID:41789631 11898924 STAT2 signal transducer and activator of transcription 2 gene DOID:0081013 severe COVID-19 ISO RGD:1323217 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to severe COVID-19 PMID:25741868|PMID:28492532|PMID:32135276 11898924 STAT2 signal transducer and activator of transcription 2 gene DOID:0111975 immunodeficiency 44 ISO RGD:1323217 D RGD:7240710 20180130 OMIM 11898924 STAT2 signal transducer and activator of transcription 2 gene DOID:0111975 immunodeficiency 44 ISO RGD:1323217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 44 PMID:16199547|PMID:17576681|PMID:23391734|PMID:24033266|PMID:25741868|PMID:26122121|PMID:28087227|PMID:28492532|PMID:32092142|PMID:32135276|PMID:33679716|PMID:9536098 11898924 STAT2 signal transducer and activator of transcription 2 gene DOID:12155 lymphocytic choriomeningitis ISO RGD:1323218 D RGD:9068941 20210305 RGD PMID:32094187|REF_RGD_ID:42722006 11898924 STAT2 signal transducer and activator of transcription 2 gene DOID:12155 lymphocytic choriomeningitis ISO RGD:732185 D RGD:9068941 20210326 RGD PMID:24760883|REF_RGD_ID:124715479 11898924 STAT2 signal transducer and activator of transcription 2 gene DOID:12205 dengue disease susceptibility ISO RGD:1323218 D RGD:9068941 20210226 RGD PMID:21075352|PMID:21379341|REF_RGD_ID:41789625|REF_RGD_ID:41789629 11898924 STAT2 signal transducer and activator of transcription 2 gene DOID:1227 neutropenia susceptibility ISO RGD:1323217 D RGD:9068941 20210226 RGD associated with Chronic Hepatitis C;DNA:SNP:intron 5:g.4757G>T (human) PMID:19200137|REF_RGD_ID:41789633 11898924 STAT2 signal transducer and activator of transcription 2 gene DOID:1883 hepatitis C ISO RGD:1323217 D RGD:9068941 20210326 RGD protein:increased expression:liver PMID:26216956|REF_RGD_ID:11074283 11898924 STAT2 signal transducer and activator of transcription 2 gene DOID:3717 gastric adenocarcinoma ISO RGD:1323217 D RGD:9068941 20220729 RGD mRNA:increased expression:stomach (human) PMID:33042401|REF_RGD_ID:153298934 11898924 STAT2 signal transducer and activator of transcription 2 gene DOID:3944 Arenaviridae infectious disease ameliorates ISO RGD:1323218 D RGD:9068941 20210226 RGD PMID:15723812|REF_RGD_ID:41789630 11898924 STAT2 signal transducer and activator of transcription 2 gene DOID:630 genetic disease ISO RGD:1323217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11898924 STAT2 signal transducer and activator of transcription 2 gene DOID:9000371 influenza A exacerbates ISO RGD:1323218 D RGD:9068941 20210226 RGD PMID:30337919|REF_RGD_ID:41789626 11898924 STAT2 signal transducer and activator of transcription 2 gene DOID:9004009 Reperfusion Injury ISO RGD:1311649 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:17880360|REF_RGD_ID:2303397 11898924 STAT2 signal transducer and activator of transcription 2 gene DOID:9004137 Bunyaviridae Infections exacerbates ISO RGD:1323218 D RGD:9068941 20210305 RGD PMID:30814285|REF_RGD_ID:41789623 11898924 STAT2 signal transducer and activator of transcription 2 gene DOID:9004379 Vesicular Stomatitis exacerbates ISO RGD:1323218 D RGD:9068941 20210226 RGD PMID:32759968|REF_RGD_ID:41789624 11898924 STAT2 signal transducer and activator of transcription 2 gene DOID:9006262 Cytomegalovirus Infections exacerbates ISO RGD:1323218 D RGD:9068941 20210226 RGD PMID:29743368|REF_RGD_ID:41789628 11898924 STAT2 signal transducer and activator of transcription 2 gene DOID:9006806 Pseudo-TORCH Syndrome 3 ISO RGD:1323217 D RGD:7240710 20200610 OMIM 11898924 STAT2 signal transducer and activator of transcription 2 gene DOID:9006806 Pseudo-TORCH Syndrome 3 ISO RGD:1323217 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pseudo-TORCH syndrome 3 PMID:25741868|PMID:28492532|PMID:31836668|PMID:32092142 11898924 STAT2 signal transducer and activator of transcription 2 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1323217 D RGD:9068941 20210226 RGD mRNA:decreased expression:monocyte (human) PMID:30842274|REF_RGD_ID:41789632 11898924 STAT2 signal transducer and activator of transcription 2 gene DOID:9008885 Staphylococcal Infections ameliorates ISO RGD:1323218 D RGD:9068941 20210226 RGD associated with influenza A PMID:30337919|REF_RGD_ID:41789626 11898924 STAT2 signal transducer and activator of transcription 2 gene DOID:9682 yellow fever susceptibility ISO RGD:1323218 D RGD:9068941 20210226 RGD PMID:31043530|REF_RGD_ID:41789622 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:0060180 colitis ISO RGD:735741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24548422 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:735741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:0090114 Sorsby's fundus dystrophy ISO RGD:735741 D RGD:7240710 20180130 OMIM 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:0090114 Sorsby's fundus dystrophy ISO RGD:735741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sorsby fundus dystrophy PMID:10854443|PMID:25741868|PMID:27601084|PMID:28492532|PMID:31415707|PMID:7148944|PMID:7894485|PMID:8634721|PMID:8639088|PMID:8919688|PMID:8981947 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:735741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:735741 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland PMID:15928670|REF_RGD_ID:2290417 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:11054 urinary bladder cancer ISO RGD:735741 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:18082200|REF_RGD_ID:2290411 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:11446 sciatic neuropathy ISO RGD:3865 D RGD:9068941 20220421 RGD RNA:decreased expression:dorsal root ganglion neuron PMID:25484256|REF_RGD_ID:151893491 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:11419 D RGD:9068941 20220825 MouseDO 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:1395 schistosomiasis ISO RGD:735741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23527093 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:735741 D RGD:9068941 20200609 RGD protein:decreased expression:aorta (human) PMID:16820601|REF_RGD_ID:1582351 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:1612 breast cancer disease_progression ISO RGD:735741 D RGD:9068941 20200609 RGD PMID:16256342|REF_RGD_ID:2290416 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:2006 preretinal fibrosis ISO RGD:735741 D RGD:9068941 20200609 RGD PMID:11004090|REF_RGD_ID:2312481 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:2841 asthma ISO RGD:735741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16926187 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:3459 breast carcinoma ISO RGD:735741 D RGD:9068941 20200609 RGD associated with Tumor Virus Infections;DNA:hypermethylation:promoter PMID:18205041|REF_RGD_ID:2290409 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:3459 breast carcinoma disease_progression ISO RGD:735741 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:17032447|REF_RGD_ID:2290413 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:3594 choriocarcinoma ISO RGD:735741 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, placenta PMID:15507671|REF_RGD_ID:2290418 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:3602 toxic encephalopathy ISO RGD:735741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:365 bladder disease ISO RGD:735741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23527093 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735741 D RGD:9068941 20220421 RGD PMID:30233216|REF_RGD_ID:151708743 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:3910 lung adenocarcinoma ISO RGD:735741 D RGD:9068941 20220812 RGD mRNA:decreased expression:lung (human) PMID:23374247|REF_RGD_ID:151708716 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:409 liver disease ISO RGD:735741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:4448 macular degeneration ISO RGD:735741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26691988 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:4450 renal cell carcinoma ISO RGD:735741 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:11576837|REF_RGD_ID:2290421 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:630 genetic disease ISO RGD:735741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:8501 fundus dystrophy ISO RGD:735741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:23023527|PMID:26493035|PMID:27601084|PMID:28492532|PMID:28559085 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9000081 Lymphatic Metastasis ISO RGD:735741 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;mRNA:increased expression:breast PMID:12828172|REF_RGD_ID:2290437 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:735741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9002265 Kidney Neoplasms ISO RGD:735741 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:15217927|REF_RGD_ID:2290419 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9002498 Wallerian Degeneration ISO RGD:3865 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:dorsal root ganglion PMID:16683235|REF_RGD_ID:1600154 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9002525 Hereditary Eye Diseases susceptibility ISO RGD:735741 D RGD:9068941 20200609 RGD protein:mutation: ; Y172C; Sorsby fundus dystrophy, OMIM:136900 PMID:9400791|REF_RGD_ID:1600153 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:735741 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:17009974|REF_RGD_ID:2290414 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3865 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:15878627|REF_RGD_ID:1559178 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:735741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:735741 D RGD:9068941 20200609 RGD PMID:17976707|REF_RGD_ID:2290412 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:735741 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:16736496|REF_RGD_ID:2290415 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9003601 Pseudoinflammatory Fundus Dystrophy, Finnish Type ISO RGD:735741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fundus dystrophy, pseudoinflammatory, recessive form PMID:25741868|PMID:28492532 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9004009 Reperfusion Injury ISO RGD:3865 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:17551674|REF_RGD_ID:2290424 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735741 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23109338 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:11419 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:8840279|REF_RGD_ID:2312482 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9005930 Endotoxemia ISO RGD:3865 D RGD:9068941 20200609 RGD PMID:17083784|REF_RGD_ID:2290426 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:735741 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:12798711|REF_RGD_ID:2290420 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9008763 Femoral Fractures disease_progression ISO RGD:3865 D RGD:9068941 20220421 RGD PMID:31691506|REF_RGD_ID:151893486 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735741 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle PMID:19633828|REF_RGD_ID:2312470 11898974 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9352 type 2 diabetes mellitus disease_progression ISO RGD:3865 D RGD:9068941 20220421 RGD associated with Femoral Fractures; PMID:31691506|REF_RGD_ID:151893486 11898988 APELA apelin receptor early endogenous ligand gene DOID:10591 pre-eclampsia ISO RGD:1624719 D RGD:9068941 20220825 MouseDO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 11899012 SIAH2 siah E3 ubiquitin protein ligase 2 gene DOID:0050579 glycogen storage disease XV ISO RGD:734303 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 11899012 SIAH2 siah E3 ubiquitin protein ligase 2 gene DOID:110 lens disease ISO RGD:734303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24282676 11899012 SIAH2 siah E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:734303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899017 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:0050777 Joubert syndrome ISO RGD:732200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11899017 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:732200 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11899017 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:732200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11899017 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:732200 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11899017 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:732200 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11899017 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:732200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11899017 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:732200 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11899017 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:732200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 11899017 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:732200 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11899017 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:0081097 Rafiq syndrome ISO RGD:732200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11899017 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:732200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia with Dysarthria PMID:31047799 11899017 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:1826 epilepsy ISO RGD:732200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11899017 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:3652 Leigh disease ISO RGD:732200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11899017 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:630 genetic disease ISO RGD:732200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899017 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:732200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11899017 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:9006881 INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA ISO RGD:732200 D RGD:7240710 20200722 OMIM 11899017 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:9006881 INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA ISO RGD:732200 D RGD:8554872 20220913 ClinVar ClinVar Annotator: match by term: ABCA2-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder with poor growth and with or without seizures or ataxia PMID:25741868|PMID:28492532|PMID:30237576 11899061 TFPI2 tissue factor pathway inhibitor 2 gene DOID:1793 pancreatic cancer ISO RGD:736798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16965396 11899061 TFPI2 tissue factor pathway inhibitor 2 gene DOID:1909 melanoma ISO RGD:736798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17372906 11899061 TFPI2 tissue factor pathway inhibitor 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11899061 TFPI2 tissue factor pathway inhibitor 2 gene DOID:630 genetic disease ISO RGD:736798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899061 TFPI2 tissue factor pathway inhibitor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:736798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17464989|PMID:28284560 11899061 TFPI2 tissue factor pathway inhibitor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:736798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15292528|PMID:17379860 11899061 TFPI2 tissue factor pathway inhibitor 2 gene DOID:8398 osteoarthritis ISO RGD:736798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15292528 11899061 TFPI2 tissue factor pathway inhibitor 2 gene DOID:8466 retinal degeneration ISO RGD:736798 D RGD:9068941 20200609 RGD PMID:15184935|REF_RGD_ID:11060273 11899061 TFPI2 tissue factor pathway inhibitor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17372906 11899061 TFPI2 tissue factor pathway inhibitor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11899061 TFPI2 tissue factor pathway inhibitor 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736798 D RGD:9068941 20200609 RGD PMID:11687973|REF_RGD_ID:11060269 11899061 TFPI2 tissue factor pathway inhibitor 2 gene DOID:9006182 Carotid Artery Injuries ISO RGD:628629 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:carotid artery: PMID:20537494|REF_RGD_ID:11060271 11899061 TFPI2 tissue factor pathway inhibitor 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19435926 11899061 TFPI2 tissue factor pathway inhibitor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:736798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 11899061 TFPI2 tissue factor pathway inhibitor 2 gene DOID:9119 acute myeloid leukemia ISO RGD:736798 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:22052167|REF_RGD_ID:11060127 11899076 PRDM14 PR/SET domain 14 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1316344 D RGD:9068941 20220708 RGD DNA:hypermethylation PMID:27777637|REF_RGD_ID:152998954 11899076 PRDM14 PR/SET domain 14 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1316344 D RGD:9068941 20211210 RGD PMID:23690269|REF_RGD_ID:150530468 11899076 PRDM14 PR/SET domain 14 gene DOID:630 genetic disease ISO RGD:1316344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899076 PRDM14 PR/SET domain 14 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1316344 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23666240 11899076 PRDM14 PR/SET domain 14 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1316344 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19043588 11899094 PPP1R3G protein phosphatase 1 regulatory subunit 3G gene DOID:630 genetic disease ISO RGD:1346810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899099 FCGBP Fc gamma binding protein gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1350128 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11899099 FCGBP Fc gamma binding protein gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1350128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11899099 FCGBP Fc gamma binding protein gene DOID:1342 congenital hypoplastic anemia ISO RGD:1350128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11899099 FCGBP Fc gamma binding protein gene DOID:2340 craniosynostosis ISO RGD:1350128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11899099 FCGBP Fc gamma binding protein gene DOID:630 genetic disease ISO RGD:1350128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899099 FCGBP Fc gamma binding protein gene DOID:9000217 Stomach Neoplasms ISO RGD:1350128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11899099 FCGBP Fc gamma binding protein gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1350128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11899099 FCGBP Fc gamma binding protein gene DOID:9269 maple syrup urine disease ISO RGD:1350128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11899099 FCGBP Fc gamma binding protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350128 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11899129 SMC1B structural maintenance of chromosomes 1B gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1318766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11899129 SMC1B structural maintenance of chromosomes 1B gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1318766 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 11899129 SMC1B structural maintenance of chromosomes 1B gene DOID:1059 intellectual disability ISO RGD:1318766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11899129 SMC1B structural maintenance of chromosomes 1B gene DOID:11054 urinary bladder cancer ISO RGD:1318766 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121791 11899129 SMC1B structural maintenance of chromosomes 1B gene DOID:2661 myoepithelioma ISO RGD:1318766 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11899129 SMC1B structural maintenance of chromosomes 1B gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 11899129 SMC1B structural maintenance of chromosomes 1B gene DOID:630 genetic disease ISO RGD:1318766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899161 TIGD3 tigger transposable element derived 3 gene DOID:1059 intellectual disability ISO RGD:1313398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11899161 TIGD3 tigger transposable element derived 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1313398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11899161 TIGD3 tigger transposable element derived 3 gene DOID:2746 glycogen storage disease V ISO RGD:1313398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11899161 TIGD3 tigger transposable element derived 3 gene DOID:3070 high grade glioma ISO RGD:1313398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11899161 TIGD3 tigger transposable element derived 3 gene DOID:630 genetic disease ISO RGD:1313398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899161 TIGD3 tigger transposable element derived 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1313398 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11899161 TIGD3 tigger transposable element derived 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1313398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11899166 SERPINF2 serpin family F member 2 gene DOID:0060601 alpha-2-plasmin inhibitor deficiency ISO RGD:1315455 D RGD:7240710 20180130 OMIM 11899166 SERPINF2 serpin family F member 2 gene DOID:0060601 alpha-2-plasmin inhibitor deficiency ISO RGD:1315455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-2-plasmin inhibitor deficiency PMID:10583218|PMID:2496145|PMID:7095605 11899166 SERPINF2 serpin family F member 2 gene DOID:0080600 COVID-19 severity ISO RGD:1315455 D RGD:9068941 20200813 RGD DNA:SNP: : PMID:32747830|REF_RGD_ID:38500238 11899166 SERPINF2 serpin family F member 2 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:1306692 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:10423332|REF_RGD_ID:1625538 11899166 SERPINF2 serpin family F member 2 gene DOID:10591 pre-eclampsia ISO RGD:1315455 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:1334334|REF_RGD_ID:1625535 11899166 SERPINF2 serpin family F member 2 gene DOID:10763 hypertension ISO RGD:1315455 D RGD:9068941 20200609 RGD PMID:9361364|REF_RGD_ID:1625531 11899166 SERPINF2 serpin family F member 2 gene DOID:1168 familial hyperlipidemia ISO RGD:1306692 D RGD:9068941 20200609 RGD PMID:2313941|REF_RGD_ID:1625536 11899166 SERPINF2 serpin family F member 2 gene DOID:2213 hemorrhagic disease ISO RGD:1315455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 11899166 SERPINF2 serpin family F member 2 gene DOID:3393 coronary artery disease ISO RGD:1315455 D RGD:9068941 20200609 RGD PMID:9184412|REF_RGD_ID:1625532 11899166 SERPINF2 serpin family F member 2 gene DOID:418 systemic scleroderma ISO RGD:1315455 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:12595617|REF_RGD_ID:1625530 11899166 SERPINF2 serpin family F member 2 gene DOID:630 genetic disease ISO RGD:1315455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11899166 SERPINF2 serpin family F member 2 gene DOID:9000528 Coronary Disease ISO RGD:1315455 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:15771120|REF_RGD_ID:1625529 11899166 SERPINF2 serpin family F member 2 gene DOID:9000808 Hypercholesterolemia ISO RGD:1315455 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:1384011|REF_RGD_ID:1625534 11899166 SERPINF2 serpin family F member 2 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1315455 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:9207984|REF_RGD_ID:1625533 11899166 SERPINF2 serpin family F member 2 gene DOID:9007571 Hyperlipoproteinemias ISO RGD:1315455 D RGD:9068941 20200609 RGD PMID:6121140|REF_RGD_ID:1625537 11899166 SERPINF2 serpin family F member 2 gene DOID:9008217 Hemorrhage ISO RGD:1315455 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V384M (human) PMID:10583218|REF_RGD_ID:1580303 11899166 SERPINF2 serpin family F member 2 gene DOID:9477 pulmonary embolism severity ISO RGD:1315456 D RGD:9068941 20200609 RGD PMID:12911586|REF_RGD_ID:1580302 11899190 SLC35E4 solute carrier family 35 member E4 gene DOID:630 genetic disease ISO RGD:1602959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899196 DRD2 dopamine receptor D2 gene DOID:0060001 withdrawal disorder ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17189962 11899196 DRD2 dopamine receptor D2 gene DOID:0080855 Parkinsonism ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:22126770|REF_RGD_ID:6907448 11899196 DRD2 dopamine receptor D2 gene DOID:0080855 Parkinsonism ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12476322|PMID:15469457|PMID:9171869 11899196 DRD2 dopamine receptor D2 gene DOID:0081292 traumatic brain injury treatment ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:24047867|REF_RGD_ID:13506948 11899196 DRD2 dopamine receptor D2 gene DOID:0090034 myoclonic dystonia 11 ISO RGD:736796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 11 PMID:10220438|PMID:10716258|PMID:12402271 11899196 DRD2 dopamine receptor D2 gene DOID:10024 migraine with aura ISO RGD:736796 D RGD:9068941 20200609 RGD DNA:snp:cds:p.H313H (human) PMID:9513185|REF_RGD_ID:1358603 11899196 DRD2 dopamine receptor D2 gene DOID:1059 intellectual disability ISO RGD:736796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11899196 DRD2 dopamine receptor D2 gene DOID:10652 Alzheimer's disease ISO RGD:736796 D RGD:9068941 20200609 RGD protein:decreased expression:blood, lymphocyte PMID:11087905|REF_RGD_ID:5686416 11899196 DRD2 dopamine receptor D2 gene DOID:10763 hypertension ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11566895 11899196 DRD2 dopamine receptor D2 gene DOID:10763 hypertension ISO RGD:736796 D RGD:9068941 20200609 RGD PMID:11494094|REF_RGD_ID:1580874 11899196 DRD2 dopamine receptor D2 gene DOID:10763 hypertension ISO RGD:736796 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15939106|REF_RGD_ID:1600905 11899196 DRD2 dopamine receptor D2 gene DOID:10937 impulse control disorder ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17332411|PMID:19940168|PMID:20671181 11899196 DRD2 dopamine receptor D2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17671965 11899196 DRD2 dopamine receptor D2 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:2520 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum (rat) PMID:19467315|REF_RGD_ID:2311576 11899196 DRD2 dopamine receptor D2 gene DOID:11119 Gilles de la Tourette syndrome treatment ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:22876458|REF_RGD_ID:6907444 11899196 DRD2 dopamine receptor D2 gene DOID:12700 hyperprolactinemia ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15286066|PMID:19339912 11899196 DRD2 dopamine receptor D2 gene DOID:12700 hyperprolactinemia treatment ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:26297122|REF_RGD_ID:13506955 11899196 DRD2 dopamine receptor D2 gene DOID:12858 Huntington's disease ISO RGD:10486 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (mouse) PMID:16905556|REF_RGD_ID:7248682 11899196 DRD2 dopamine receptor D2 gene DOID:12858 Huntington's disease ISO RGD:68472 D RGD:9068941 20200609 RGD PMID:12111832|REF_RGD_ID:5686414 11899196 DRD2 dopamine receptor D2 gene DOID:1307 dementia ISO RGD:2520 D RGD:9068941 20200609 RGD mRNA:decreased expression:striatum (rat) PMID:19500946|REF_RGD_ID:2311554 11899196 DRD2 dopamine receptor D2 gene DOID:14330 Parkinson's disease ISO RGD:10486 D RGD:9068941 20220825 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 11899196 DRD2 dopamine receptor D2 gene DOID:14330 Parkinson's disease ISO RGD:2520 D RGD:9068941 20200609 RGD protein:increased expression:striatum (rat) PMID:18289173|REF_RGD_ID:2311585 11899196 DRD2 dopamine receptor D2 gene DOID:14330 Parkinson's disease ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8558425 11899196 DRD2 dopamine receptor D2 gene DOID:1561 cognitive disorder ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19910723 11899196 DRD2 dopamine receptor D2 gene DOID:1596 depressive disorder ISO RGD:2520 D RGD:9068941 20200609 RGD mRNA:decreased expression:striatum PMID:21596067|REF_RGD_ID:6907449 11899196 DRD2 dopamine receptor D2 gene DOID:1596 depressive disorder ISO RGD:736796 D RGD:9068941 20200609 RGD DNA:snp:cds:p.H313H (human) PMID:9513185|REF_RGD_ID:1358603 11899196 DRD2 dopamine receptor D2 gene DOID:1742 drug psychosis ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:26174132|REF_RGD_ID:11534754 11899196 DRD2 dopamine receptor D2 gene DOID:2030 anxiety disorder ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18305461|PMID:20532872 11899196 DRD2 dopamine receptor D2 gene DOID:2030 anxiety disorder ISO RGD:736796 D RGD:9068941 20200609 RGD DNA:snp:cds:p.H313H (human) PMID:9513185|REF_RGD_ID:1358603 11899196 DRD2 dopamine receptor D2 gene DOID:2316 brain ischemia ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:11474153|REF_RGD_ID:1580883 11899196 DRD2 dopamine receptor D2 gene DOID:2560 morphine dependence ISO RGD:2520 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus (rat) PMID:18276072|REF_RGD_ID:2311587 11899196 DRD2 dopamine receptor D2 gene DOID:303 substance-related disorder ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16901644 11899196 DRD2 dopamine receptor D2 gene DOID:3602 toxic encephalopathy ISO RGD:2520 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus (rat) PMID:19576243|REF_RGD_ID:2311553 11899196 DRD2 dopamine receptor D2 gene DOID:446 primary hyperaldosteronism ISO RGD:10486 D RGD:9068941 20220825 MouseDO OMIM:605635 | OMIM:613677 11899196 DRD2 dopamine receptor D2 gene DOID:480 movement disease ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6858777 11899196 DRD2 dopamine receptor D2 gene DOID:480 movement disease ISO RGD:736796 D RGD:9068941 20200609 RGD myoclonus dystonia, OMIM:159900, V154I PMID:10220438|REF_RGD_ID:1600903 11899196 DRD2 dopamine receptor D2 gene DOID:5419 schizophrenia ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10831489|PMID:11245917|PMID:18583979|PMID:21187413 11899196 DRD2 dopamine receptor D2 gene DOID:5419 schizophrenia ISO RGD:736796 D RGD:9068941 20200609 RGD protein:decreased homodimerization:temporal cortex: PMID:20067857|REF_RGD_ID:9835359 11899196 DRD2 dopamine receptor D2 gene DOID:5419 schizophrenia ISO RGD:736796 D RGD:9068941 20200609 RGD protein:increase homodimerization:striatum PMID:20813060|REF_RGD_ID:6907450 11899196 DRD2 dopamine receptor D2 gene DOID:5425 ovarian hyperstimulation syndrome treatment ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:25217874|REF_RGD_ID:13506956 11899196 DRD2 dopamine receptor D2 gene DOID:543 dystonia ISO RGD:736796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:17576681|PMID:25711927|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9536098 11899196 DRD2 dopamine receptor D2 gene DOID:630 genetic disease ISO RGD:736796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28166811|PMID:28492532 11899196 DRD2 dopamine receptor D2 gene DOID:670 amphetamine abuse ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18363855|PMID:18555060|PMID:19940168 11899196 DRD2 dopamine receptor D2 gene DOID:679 basal ganglia disease ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11198054|PMID:12211096|PMID:18480698|PMID:19225277|PMID:19506579 11899196 DRD2 dopamine receptor D2 gene DOID:783 end stage renal disease ISO RGD:736796 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin Dependent; DNA:polymorphisms:5'utr, intron: -141delC, G>A (human) PMID:18366720|REF_RGD_ID:2311602 11899196 DRD2 dopamine receptor D2 gene DOID:9000499 Alcoholic Intoxication treatment ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:28300818|REF_RGD_ID:13506954 11899196 DRD2 dopamine receptor D2 gene DOID:9000641 Pain ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15996639 11899196 DRD2 dopamine receptor D2 gene DOID:9000998 Brain Injuries ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:18509630|REF_RGD_ID:2311580 11899196 DRD2 dopamine receptor D2 gene DOID:9001310 Tobacco Use Disorder ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18579413 11899196 DRD2 dopamine receptor D2 gene DOID:9001310 Tobacco Use Disorder ISO RGD:736796 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:enhancer, promoter, intron:multiple PMID:17108814|REF_RGD_ID:1600904 11899196 DRD2 dopamine receptor D2 gene DOID:9002234 Pituitary Neoplasms ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12727942 11899196 DRD2 dopamine receptor D2 gene DOID:9002362 Hyperkinesis ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1975278|PMID:24418703 11899196 DRD2 dopamine receptor D2 gene DOID:9002457 Experimental Arthritis ISO RGD:2520 D RGD:9068941 20200609 RGD mRNA:increased expression:corpus striatum (rat) PMID:23762129|REF_RGD_ID:7248592 11899196 DRD2 dopamine receptor D2 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:23762129|REF_RGD_ID:7248592 11899196 DRD2 dopamine receptor D2 gene DOID:9002554 Tachycardia ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:8287413|REF_RGD_ID:1580884 11899196 DRD2 dopamine receptor D2 gene DOID:9002554 Tachycardia ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10721819|PMID:9777039 11899196 DRD2 dopamine receptor D2 gene DOID:9003805 Catalepsy ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1365866|PMID:3283778|PMID:7845605|PMID:9618422 11899196 DRD2 dopamine receptor D2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:736796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11899196 DRD2 dopamine receptor D2 gene DOID:9004657 Weight Gain ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20375926 11899196 DRD2 dopamine receptor D2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:2520 D RGD:9068941 20200609 RGD protein:increased activity:caudate putamen (rat) PMID:18284941|REF_RGD_ID:2311586 11899196 DRD2 dopamine receptor D2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10900248|PMID:11751029|PMID:11923462|PMID:15010698|PMID:15042275|PMID:16541082|PMID:16971900|PMID:17332411|PMID:18418874|PMID:20494958 11899196 DRD2 dopamine receptor D2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2520 D RGD:9068941 20200609 RGD protein:altered activity:hypothalamus, pancreatic islet, brainstem (rat) PMID:17174299|REF_RGD_ID:1624999 11899196 DRD2 dopamine receptor D2 gene DOID:9005968 Neuralgia ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:22171983|PMID:22902996|REF_RGD_ID:6907443|REF_RGD_ID:6907447 11899196 DRD2 dopamine receptor D2 gene DOID:9006024 Hypotension ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10626749|PMID:12946566|PMID:1724532|PMID:9917201 11899196 DRD2 dopamine receptor D2 gene DOID:9007001 Bradycardia ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10626749|PMID:1724532 11899196 DRD2 dopamine receptor D2 gene DOID:9008023 Memory Disorders ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21592505 11899196 DRD2 dopamine receptor D2 gene DOID:9008086 Developmental Disabilities ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21592505 11899196 DRD2 dopamine receptor D2 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:18707801|REF_RGD_ID:2311579 11899196 DRD2 dopamine receptor D2 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10534246|PMID:14629710|PMID:7845605 11899196 DRD2 dopamine receptor D2 gene DOID:9008675 Dyskinesias ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16435402 11899196 DRD2 dopamine receptor D2 gene DOID:9008953 Binge-Eating Disorder ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:28821448|REF_RGD_ID:13506951 11899196 DRD2 dopamine receptor D2 gene DOID:9008967 Brain Concussion ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:26448536|REF_RGD_ID:13506960 11899196 DRD2 dopamine receptor D2 gene DOID:93 language disorder ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23691092 11899196 DRD2 dopamine receptor D2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736796 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:32806C>T (human) PMID:18834717|REF_RGD_ID:2311601 11899196 DRD2 dopamine receptor D2 gene DOID:9970 obesity ISO RGD:2520 D RGD:9068941 20200609 RGD mRNA:decreased expression:ventral tegmental area (rat) PMID:18477764|REF_RGD_ID:2311581 11899196 DRD2 dopamine receptor D2 gene DOID:9970 obesity ISO RGD:736796 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15939106|REF_RGD_ID:1600905 11899196 DRD2 dopamine receptor D2 gene DOID:9970 obesity ISO RGD:736796 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:enhancer, promoter, intron:multiple PMID:17108814|REF_RGD_ID:1600904 11899196 DRD2 dopamine receptor D2 gene DOID:9975 cocaine dependence ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:29454035|REF_RGD_ID:13506950 11899196 DRD2 dopamine receptor D2 gene DOID:9976 heroin dependence ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:28598964|REF_RGD_ID:13506959 11899196 DRD2 dopamine receptor D2 gene DOID:9976 heroin dependence ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11751029 11899209 PLAC9 placenta associated 9 gene DOID:630 genetic disease ISO RGD:1315403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899209 PLAC9 placenta associated 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11899217 TNNC1 troponin C1, slow skeletal and cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:1320524 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:18572189|PMID:19439414|PMID:20215591|PMID:20459070|PMID:21056975|PMID:21832052|PMID:22489623|PMID:23425245|PMID:24033266|PMID:24744096|PMID:24793961|PMID:25351510|PMID:25741868|PMID:26304555|PMID:26529187|PMID:26779504|PMID:26976709|PMID:27574918|PMID:27604170|PMID:27721798|PMID:28049727|PMID:28386062|PMID:28445763|PMID:28473771|PMID:28492532|PMID:28518168|PMID:28530094|PMID:28533433|PMID:28771489|PMID:28798025|PMID:29253866|PMID:29255176|PMID:30070845|PMID:30138628|PMID:30165862|PMID:30775854|PMID:30847666|PMID:31513939|PMID:32038292|PMID:32481709|PMID:32880476|PMID:33309763|PMID:33407484|PMID:33658040|PMID:35769956 11899217 TNNC1 troponin C1, slow skeletal and cardiac type gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1320524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 11899217 TNNC1 troponin C1, slow skeletal and cardiac type gene DOID:0110319 hypertrophic cardiomyopathy 13 ISO RGD:1320524 D RGD:7240710 20180130 OMIM 11899217 TNNC1 troponin C1, slow skeletal and cardiac type gene DOID:0110319 hypertrophic cardiomyopathy 13 ISO RGD:1320524 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 13 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 13 PMID:11385718|PMID:16302972|PMID:17576681|PMID:18042489|PMID:18063575|PMID:18285522|PMID:18572189|PMID:18820258|PMID:19439414|PMID:19506933|PMID:20215591|PMID:20459070|PMID:21056975|PMID:21832052|PMID:22489623|PMID:22815480|PMID:23008774|PMID:23425245|PMID:23633581|PMID:24033266|PMID:24260207|PMID:24744096|PMID:24793961|PMID:25163546|PMID:25351510|PMID:25741868|PMID:26304555|PMID:26341255|PMID:26529187|PMID:26779504|PMID:26899768|PMID:26976709|PMID:27574918|PMID:27604170|PMID:27721798|PMID:28049727|PMID:28386062|PMID:28445763|PMID:28473771|PMID:28492532|PMID:28518168|PMID:28530094|PMID:28533433|PMID:28771489|PMID:28798025|PMID:29121657|PMID:29247119|PMID:29253866|PMID:29255176|PMID:30070845|PMID:30138628|PMID:30165862|PMID:30188508|PMID:30453078|PMID:30775854|PMID:30847666|PMID:31333075|PMID:31513939|PMID:31568572|PMID:32038292|PMID:32481709|PMID:32880476|PMID:33407484|PMID:33552729|PMID:33658040|PMID:35769956|PMID:9536098 11899217 TNNC1 troponin C1, slow skeletal and cardiac type gene DOID:0110434 dilated cardiomyopathy 1Z ISO RGD:1320524 D RGD:7240710 20180130 OMIM 11899217 TNNC1 troponin C1, slow skeletal and cardiac type gene DOID:0110434 dilated cardiomyopathy 1Z ISO RGD:1320524 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1Z PMID:11385718|PMID:15542288|PMID:16199547|PMID:16302972|PMID:17576681|PMID:18042489|PMID:18063575|PMID:18285522|PMID:18572189|PMID:18820258|PMID:19439414|PMID:19506933|PMID:20215591|PMID:20459070|PMID:21056975|PMID:21262074|PMID:21832052|PMID:22489623|PMID:22815480|PMID:23008774|PMID:23425245|PMID:23633581|PMID:23861362|PMID:24033266|PMID:24260207|PMID:24503780|PMID:24744096|PMID:24793961|PMID:25163546|PMID:25351510|PMID:25741868|PMID:26304555|PMID:26341255|PMID:26529187|PMID:26779504|PMID:26899768|PMID:26976709|PMID:27532257|PMID:27574918|PMID:27604170|PMID:27650965|PMID:27721798|PMID:28049727|PMID:28386062|PMID:28445763|PMID:28473771|PMID:28492532|PMID:28518168|PMID:28530094|PMID:28533433|PMID:28771489|PMID:28798025|PMID:28807990|PMID:29095814|PMID:29121657|PMID:29247119|PMID:29253866|PMID:29255176|PMID:30070845|PMID:30138628|PMID:30165862|PMID:30188508|PMID:30453078|PMID:30775854|PMID:30847666|PMID:31333075|PMID:31513939|PMID:31568572|PMID:31918855|PMID:31983221|PMID:32013205|PMID:32038292|PMID:32481709|PMID:32815737|PMID:32880476|PMID:33309763|PMID:33407484|PMID:33552729|PMID:33658040|PMID:35769956|PMID:9536098 11899217 TNNC1 troponin C1, slow skeletal and cardiac type gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1320524 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:18572189|PMID:19439414|PMID:20215591|PMID:20459070|PMID:21056975|PMID:21832052|PMID:24033266|PMID:24744096|PMID:25741868|PMID:27604170|PMID:28049727|PMID:28386062|PMID:28473771|PMID:28492532|PMID:28518168|PMID:28530094|PMID:28798025|PMID:29253866|PMID:30847666|PMID:32038292|PMID:33552729 11899217 TNNC1 troponin C1, slow skeletal and cardiac type gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1320524 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:18572189|PMID:19439414|PMID:20459070|PMID:21056975|PMID:22489623|PMID:23425245|PMID:24033266|PMID:24744096|PMID:24793961|PMID:25351510|PMID:25741868|PMID:26304555|PMID:26529187|PMID:26779504|PMID:26976709|PMID:27574918|PMID:27604170|PMID:27721798|PMID:28445763|PMID:28473771|PMID:28492532|PMID:28533433|PMID:28771489|PMID:29255176|PMID:30070845|PMID:30138628|PMID:30165862|PMID:30775854|PMID:30847666|PMID:31513939|PMID:32481709|PMID:32880476|PMID:33407484|PMID:33658040|PMID:35769956 11899217 TNNC1 troponin C1, slow skeletal and cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:1320524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:20215591|PMID:21832052|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28807990|PMID:31333075|PMID:31568572 11899217 TNNC1 troponin C1, slow skeletal and cardiac type gene DOID:630 genetic disease ISO RGD:1320524 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899217 TNNC1 troponin C1, slow skeletal and cardiac type gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1320524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy 11899228 LOC100987067 olfactory receptor 5I1 gene DOID:1059 intellectual disability ISO RGD:1351255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11899228 LOC100987067 olfactory receptor 5I1 gene DOID:630 genetic disease ISO RGD:1351255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899229 SCGB3A2 secretoglobin family 3A member 2 gene DOID:0050127 sinusitis ISO RGD:1346821 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:nasal mucosa PMID:21385388|REF_RGD_ID:5147389 11899229 SCGB3A2 secretoglobin family 3A member 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1346821 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11899229 SCGB3A2 secretoglobin family 3A member 2 gene DOID:2841 asthma ISO RGD:1346821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma, susceptibility to PMID:11813133 11899229 SCGB3A2 secretoglobin family 3A member 2 gene DOID:2841 asthma no_association ISO RGD:1346821 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-112G>A (human) PMID:18201431|REF_RGD_ID:5144230 11899229 SCGB3A2 secretoglobin family 3A member 2 gene DOID:2841 asthma severity ISO RGD:1346821 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-112G>A (human) PMID:18089940|REF_RGD_ID:5144231 11899229 SCGB3A2 secretoglobin family 3A member 2 gene DOID:2841 asthma susceptibility ISO RGD:1346821 D RGD:7240710 20190502 OMIM 11899229 SCGB3A2 secretoglobin family 3A member 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1558355 D RGD:9068941 20200609 RGD PMID:21478551|REF_RGD_ID:5144129 11899229 SCGB3A2 secretoglobin family 3A member 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1346821 D RGD:9068941 20200609 RGD PMID:20466451|REF_RGD_ID:5147390 11899229 SCGB3A2 secretoglobin family 3A member 2 gene DOID:4481 allergic rhinitis susceptibility ISO RGD:1346821 D RGD:9068941 20200609 RGD DNA:SNP: :rs7726552 (human) PMID:21410962|REF_RGD_ID:5144225 11899229 SCGB3A2 secretoglobin family 3A member 2 gene DOID:4483 rhinitis ISO RGD:1346821 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:nasal mucosa PMID:21385388|REF_RGD_ID:5147389 11899229 SCGB3A2 secretoglobin family 3A member 2 gene DOID:4483 rhinitis ISO RGD:1346821 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:17218572|REF_RGD_ID:5144232 11899229 SCGB3A2 secretoglobin family 3A member 2 gene DOID:630 genetic disease ISO RGD:1346821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899229 SCGB3A2 secretoglobin family 3A member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11899229 SCGB3A2 secretoglobin family 3A member 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1346821 D RGD:9068941 20200609 RGD PMID:19418968|REF_RGD_ID:5147392 11899229 SCGB3A2 secretoglobin family 3A member 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1558355 D RGD:9068941 20200609 RGD PMID:20466451|REF_RGD_ID:5147390 11899229 SCGB3A2 secretoglobin family 3A member 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346821 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11899236 BMP4 bone morphogenetic protein 4 gene DOID:0050567 orofacial cleft ISO RGD:730832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofacial cleft 11899236 BMP4 bone morphogenetic protein 4 gene DOID:0050591 tooth agenesis ISO RGD:730832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tooth agenesis 11899236 BMP4 bone morphogenetic protein 4 gene DOID:0050591 tooth agenesis susceptibility ISO RGD:730832 D RGD:9068941 20200609 RGD DNA:SNP: :rs17563(human) PMID:26166641|REF_RGD_ID:13442494 11899236 BMP4 bone morphogenetic protein 4 gene DOID:0050651 atrioventricular septal defect ISO RGD:10244 D RGD:9068941 20220825 MouseDO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 11899236 BMP4 bone morphogenetic protein 4 gene DOID:0050834 CHARGE syndrome ISO RGD:10244 D RGD:9068941 20200609 RGD mRNA:altered localization:brain: PMID:22658483|REF_RGD_ID:9068442 11899236 BMP4 bone morphogenetic protein 4 gene DOID:0060673 Peters anomaly ISO RGD:730832 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:25741868 11899236 BMP4 bone morphogenetic protein 4 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:730832 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:25741868 11899236 BMP4 bone morphogenetic protein 4 gene DOID:0060887 ossification of the posterior longitudinal ligament of spine susceptibility ISO RGD:730832 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:6007C>T(rs17563)(human) PMID:21034624|REF_RGD_ID:9068398 11899236 BMP4 bone morphogenetic protein 4 gene DOID:0080015 physical disorder ISO RGD:10244 D RGD:9068941 20220825 MouseDO 11899236 BMP4 bone morphogenetic protein 4 gene DOID:0080205 CAKUT susceptibility ISO RGD:730832 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2071047,rs17563(human) PMID:24131739|REF_RGD_ID:13442498 11899236 BMP4 bone morphogenetic protein 4 gene DOID:0080207 CAKUT2 ISO RGD:730832 D RGD:9068941 20200609 RGD DNA:mutations:cds: c.485G> A (p.R162Q), c.1167T> C(human) PMID:21927809|REF_RGD_ID:13446406 11899236 BMP4 bone morphogenetic protein 4 gene DOID:0080313 cleft palate-lateral synechia syndrome ISO RGD:10244 D RGD:9068941 20220825 MouseDO OMIM:119550 11899236 BMP4 bone morphogenetic protein 4 gene DOID:0080404 orofacial cleft 11 ISO RGD:730832 D RGD:7240710 20180130 OMIM 11899236 BMP4 bone morphogenetic protein 4 gene DOID:0080404 orofacial cleft 11 ISO RGD:730832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Orofacial cleft 11 PMID:12404109|PMID:18252212|PMID:18305125|PMID:18771417|PMID:19249007|PMID:19557432|PMID:19685083|PMID:21340693|PMID:22052794|PMID:22978696|PMID:23227324|PMID:23841782|PMID:24429398|PMID:25741868|PMID:28492532|PMID:30568244|PMID:31053785 11899236 BMP4 bone morphogenetic protein 4 gene DOID:0080636 syndromic microphthalmia ISO RGD:730832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Syndromic Microphthalmia, Dominant PMID:25741868|PMID:28492532 11899236 BMP4 bone morphogenetic protein 4 gene DOID:0090043 dystonia 5 ISO RGD:730832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia 5 PMID:17111153|PMID:19332422|PMID:19491146|PMID:25557619|PMID:28492532|PMID:9667588 11899236 BMP4 bone morphogenetic protein 4 gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:10244 D RGD:9068941 20220825 MouseDO OMIM:602482 11899236 BMP4 bone morphogenetic protein 4 gene DOID:0110779 hereditary spastic paraplegia 28 ISO RGD:730832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 28 PMID:28492532 11899236 BMP4 bone morphogenetic protein 4 gene DOID:0111535 progressive osseous heteroplasia ISO RGD:730832 D RGD:9068941 20200609 RGD protein:increased expression:dermis: PMID:18422975|REF_RGD_ID:9068449 11899236 BMP4 bone morphogenetic protein 4 gene DOID:0111805 syndromic microphthalmia 6 ISO RGD:730832 D RGD:7240710 20180130 OMIM 11899236 BMP4 bone morphogenetic protein 4 gene DOID:0111805 syndromic microphthalmia 6 ISO RGD:730832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BMP4-Related Syndromic Microphthalmia | ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies PMID:12404109|PMID:17003840|PMID:18252212|PMID:18305125|PMID:18771417|PMID:19249007|PMID:19557432|PMID:19685083|PMID:20949628|PMID:21340693|PMID:22052794|PMID:22978696|PMID:23227324|PMID:23841782|PMID:24429398|PMID:25741868|PMID:28492532|PMID:31063268 11899236 BMP4 bone morphogenetic protein 4 gene DOID:10126 keratoconus ISO RGD:730832 D RGD:9068941 20200609 RGD mRNA:increased expression:keratocyte: PMID:19956410|REF_RGD_ID:8699496 11899236 BMP4 bone morphogenetic protein 4 gene DOID:10286 prostate carcinoma disease_progression ISO RGD:730832 D RGD:9068941 20200609 RGD protein:increased expression:prostate PMID:16519147|REF_RGD_ID:1643592 11899236 BMP4 bone morphogenetic protein 4 gene DOID:10652 Alzheimer's disease ISO RGD:10244 D RGD:9068941 20200609 RGD PMID:19463786|REF_RGD_ID:10414082 11899236 BMP4 bone morphogenetic protein 4 gene DOID:11476 osteoporosis ISO RGD:730832 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36453845 11899236 BMP4 bone morphogenetic protein 4 gene DOID:11963 esophagitis ISO RGD:730832 D RGD:9068941 20200609 RGD protein:increased expression:esophagus: PMID:17570215|REF_RGD_ID:8699511 11899236 BMP4 bone morphogenetic protein 4 gene DOID:12185 otosclerosis ISO RGD:730832 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.N150K(human) PMID:24492129|REF_RGD_ID:8699491 11899236 BMP4 bone morphogenetic protein 4 gene DOID:12185 otosclerosis susceptibility ISO RGD:730832 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.A152V,rs17563(human) PMID:18021008|REF_RGD_ID:8698669 11899236 BMP4 bone morphogenetic protein 4 gene DOID:1222 cartilage disease treatment ISO RGD:730832 D RGD:9068941 20200609 RGD PMID:16447218|REF_RGD_ID:8699518 11899236 BMP4 bone morphogenetic protein 4 gene DOID:13374 fibrodysplasia ossificans progressiva ISO RGD:10244 D RGD:9068941 20220825 MouseDO OMIM:135100 11899236 BMP4 bone morphogenetic protein 4 gene DOID:13515 tuberous sclerosis ISO RGD:730832 D RGD:9068941 20200609 RGD protein:decreased expression, altered localization:cerebral cortex: PMID:22752548|REF_RGD_ID:9068443 11899236 BMP4 bone morphogenetic protein 4 gene DOID:13938 amenorrhea ISO RGD:730832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11899236 BMP4 bone morphogenetic protein 4 gene DOID:13976 peptic esophagitis ISO RGD:2213 D RGD:9068941 20200609 RGD protein:increased expression:esophagus: PMID:17570215|REF_RGD_ID:8699511 11899236 BMP4 bone morphogenetic protein 4 gene DOID:1612 breast cancer ISO RGD:730832 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:17004110|REF_RGD_ID:1643590 11899236 BMP4 bone morphogenetic protein 4 gene DOID:18 urinary system disease ISO RGD:10244 D RGD:9068941 20220825 MouseDO 11899236 BMP4 bone morphogenetic protein 4 gene DOID:182 calcinosis ISO RGD:730832 D RGD:9068941 20200609 RGD protein:increased expression:dermis: PMID:18422975|REF_RGD_ID:9068449 11899236 BMP4 bone morphogenetic protein 4 gene DOID:1826 epilepsy ISO RGD:2213 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus PMID:17286956|REF_RGD_ID:1643597 11899236 BMP4 bone morphogenetic protein 4 gene DOID:1882 atrial heart septal defect susceptibility ISO RGD:730832 D RGD:9068941 20200609 RGD DNA:SNP: :rs762642(human) PMID:25022354|REF_RGD_ID:13442496 11899236 BMP4 bone morphogenetic protein 4 gene DOID:1909 melanoma susceptibility ISO RGD:730832 D RGD:9068941 20200609 RGD DNA:SNP:cds:6007C>T (rs17563)(human) PMID:19557432|REF_RGD_ID:9068447 11899236 BMP4 bone morphogenetic protein 4 gene DOID:2999 granulosa cell tumor ISO RGD:10244 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:16488995|REF_RGD_ID:1643593 11899236 BMP4 bone morphogenetic protein 4 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:2213 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart: PMID:18280291|REF_RGD_ID:9068407 11899236 BMP4 bone morphogenetic protein 4 gene DOID:4448 macular degeneration ISO RGD:730832 D RGD:9068941 20200609 RGD protein:increased expression:bruch's membrane,pigmented layer of retina: PMID:19158083|REF_RGD_ID:8699495 11899236 BMP4 bone morphogenetic protein 4 gene DOID:4450 renal cell carcinoma severity ISO RGD:730832 D RGD:9068941 20200609 RGD PMID:17644140|REF_RGD_ID:1643589 11899236 BMP4 bone morphogenetic protein 4 gene DOID:5394 prolactinoma ISO RGD:10244 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pituitary gland PMID:12552124|REF_RGD_ID:629544 11899236 BMP4 bone morphogenetic protein 4 gene DOID:5394 prolactinoma ISO RGD:2213 D RGD:9068941 20200609 RGD protein:increased expression:pituitary gland PMID:12552124|REF_RGD_ID:629544 11899236 BMP4 bone morphogenetic protein 4 gene DOID:5394 prolactinoma ISO RGD:730832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16809920 11899236 BMP4 bone morphogenetic protein 4 gene DOID:5394 prolactinoma ISO RGD:730832 D RGD:9068941 20200609 RGD protein:increased expression:pituitary gland PMID:12552124|REF_RGD_ID:629544 11899236 BMP4 bone morphogenetic protein 4 gene DOID:540 strabismus ISO RGD:730832 D RGD:9068941 20200609 RGD PMID:14710472|REF_RGD_ID:8699500 11899236 BMP4 bone morphogenetic protein 4 gene DOID:630 genetic disease ISO RGD:730832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19249007|PMID:21340693|PMID:23841782|PMID:25741868|PMID:28492532 11899236 BMP4 bone morphogenetic protein 4 gene DOID:668 myositis ossificans ISO RGD:730832 D RGD:9068941 20200609 RGD PMID:8678932|REF_RGD_ID:734648 11899236 BMP4 bone morphogenetic protein 4 gene DOID:7004 ACTH-secreting pituitary adenoma ISO RGD:730832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16195406 11899236 BMP4 bone morphogenetic protein 4 gene DOID:7148 rheumatoid arthritis ISO RGD:730832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 11899236 BMP4 bone morphogenetic protein 4 gene DOID:8398 osteoarthritis ISO RGD:730832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2213 D RGD:9068941 20200609 RGD PMID:23770801|REF_RGD_ID:9068404 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:730832 D RGD:9068941 20200609 RGD PMID:18803859|REF_RGD_ID:9068437 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9000598 Cranial Nerve Injuries ISO RGD:2213 D RGD:9068941 20200609 RGD mRNA:increased expression:superior cervical ganglion PMID:16420416|REF_RGD_ID:2289006 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9000955 Acute Otitis Media ISO RGD:10244 D RGD:9068941 20210611 RGD mRNA:decreased expression:middle ear (mouse) PMID:21889218|REF_RGD_ID:127284853 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9001044 Choroidal Neovascularization ISO RGD:10244 D RGD:9068941 20200609 RGD PMID:21411747|PMID:22392094|REF_RGD_ID:8699493|REF_RGD_ID:8699501 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9001471 Anorectal Malformations ISO RGD:2213 D RGD:9068941 20200609 RGD mRNA:decreased expression:hindgut PMID:17161201|REF_RGD_ID:1599527 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9001471 Anorectal Malformations ISO RGD:2213 D RGD:9068941 20200609 RGD mRNA:decreased expression:rectum: PMID:22027561|REF_RGD_ID:9068408 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9001471 Anorectal Malformations severity ISO RGD:730832 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:rectum PMID:20146882|REF_RGD_ID:12798571 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9001547 Tibial Fractures ISO RGD:2213 D RGD:9068941 20200609 RGD protein:increased expression:tibia PMID:16651391|REF_RGD_ID:2289037 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2213 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:16447265|REF_RGD_ID:1643229 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9002209 Skull Fractures treatment ISO RGD:730832 D RGD:9068941 20200609 RGD PMID:16332232|REF_RGD_ID:8699514 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2213 D RGD:9068941 20200609 RGD PMID:22710965|REF_RGD_ID:9068402 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9003036 Oral Lichen Planus ISO RGD:730832 D RGD:9068941 20200609 RGD protein:increased expression:mouth mucosa: PMID:16393252|REF_RGD_ID:9068457 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2213 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:brain: PMID:23236544|REF_RGD_ID:8699519 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9003936 Cardiomegaly ISO RGD:10244 D RGD:9068941 20200609 RGD protein:increased expression:heart: PMID:23747723|REF_RGD_ID:8847123 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:730832 D RGD:9068941 20200609 RGD PMID:12782598|REF_RGD_ID:2296026 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9004332 Osteoarthritis, Experimental ISO RGD:730832 D RGD:9068941 20200609 RGD PMID:19404941|REF_RGD_ID:9068434 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9004538 Hearing Loss ISO RGD:10244 D RGD:9068941 20200609 RGD PMID:17275231|REF_RGD_ID:8698665 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9004999 APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS ISO RGD:730832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aplasia/hypoplasia involving bones of the lower limbs 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9005988 Multicystic Dysplastic Kidney susceptibility ISO RGD:730832 D RGD:9068941 20200609 RGD DNA:SNP: :rs17563(human) PMID:24131739|REF_RGD_ID:13442498 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9006294 Congenital Limb Deformities ISO RGD:2213 D RGD:9068941 20200609 RGD mRNA:decreased expression:mesoderm: PMID:17661743|REF_RGD_ID:9068432 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9007096 Stroke ISO RGD:2213 D RGD:9068941 20200609 RGD protein:increased expression:brain, astrocyte PMID:16730912|REF_RGD_ID:2289004 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9007402 Gliosis ISO RGD:2213 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:17696121|REF_RGD_ID:1643225 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9007480 Hyperoxia ISO RGD:2213 D RGD:9068941 20200609 RGD PMID:23236544|REF_RGD_ID:8699519 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9008 psoriatic arthritis ISO RGD:730832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9008193 Cartilage Fractures treatment ISO RGD:730832 D RGD:9068941 20200609 RGD PMID:19035511|REF_RGD_ID:9068397 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:730832 D RGD:9068941 20200609 RGD protein:decreased expression, altered localization:cerebral cortex: PMID:22752548|REF_RGD_ID:9068443 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19011631 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:2213 D RGD:9068941 20200609 RGD PMID:16818050|REF_RGD_ID:2289003 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9008550 Vitamin A Deficiency ISO RGD:730832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16120438 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9008763 Femoral Fractures ISO RGD:2213 D RGD:9068941 20200609 RGD mRNA:increased expression:upper leg PMID:10701160|REF_RGD_ID:2289025 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9008763 Femoral Fractures treatment ISO RGD:2213 D RGD:9068941 20200609 RGD PMID:15352071|REF_RGD_ID:9068399 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9008763 Femoral Fractures treatment ISO RGD:730832 D RGD:9068941 20200609 RGD PMID:12810166|REF_RGD_ID:8699510 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9008939 Breast Neoplasms ISO RGD:730832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23180569 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:730832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18280291 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9206 Barrett's esophagus ISO RGD:2213 D RGD:9068941 20200609 RGD protein:increased expression:esophagus: PMID:17570215|REF_RGD_ID:8699511 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9206 Barrett's esophagus ISO RGD:730832 D RGD:9068941 20200609 RGD protein:increased expression:esophagus: PMID:17570215|REF_RGD_ID:8699511 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9282 ocular hypertension ISO RGD:10244 D RGD:9068941 20200609 RGD PMID:11722794|REF_RGD_ID:8698668 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9296 cleft lip ISO RGD:730832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant PMID:12404109|PMID:18771417|PMID:19249007|PMID:19557432|PMID:23227324|PMID:25741868|PMID:28492532 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9296 cleft lip susceptibility ISO RGD:730832 D RGD:9068941 20200609 RGD DNA:SNP: : rs17563 (p.V152A)(human) PMID:23227324|REF_RGD_ID:13442497 11899236 BMP4 bone morphogenetic protein 4 gene DOID:9296 cleft lip susceptibility ISO RGD:730832 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.V152A(human) PMID:18771417|REF_RGD_ID:13442495 11899247 PEG3 paternally expressed 3 gene DOID:4947 cholangiocarcinoma ISO RGD:1322359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 11899247 PEG3 paternally expressed 3 gene DOID:630 genetic disease ISO RGD:1322359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899247 PEG3 paternally expressed 3 gene DOID:9003155 Parasitic Liver Diseases ISO RGD:1322359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 11899278 WNT6 Wnt family member 6 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1312067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11899278 WNT6 Wnt family member 6 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1312067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex 11899278 WNT6 Wnt family member 6 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1312067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11899278 WNT6 Wnt family member 6 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1312067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11899278 WNT6 Wnt family member 6 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1312067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cholestanol storage disease PMID:10775536|PMID:26937392|PMID:28492532|PMID:9392430 11899278 WNT6 Wnt family member 6 gene DOID:630 genetic disease ISO RGD:1312067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899278 WNT6 Wnt family member 6 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1312068 D RGD:9068941 20200609 RGD Adenomyoepithelioma; mRNA:increased expression:tumor:PLAG-1 transgenic mice PMID:18649356|REF_RGD_ID:2298845 11899278 WNT6 Wnt family member 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11899278 WNT6 Wnt family member 6 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1312068 D RGD:9068941 20200609 RGD in vitro transformation of transfected C57MG mammary epithelial cell line PMID:9419423|REF_RGD_ID:2298848 11899278 WNT6 Wnt family member 6 gene DOID:9005233 Experimental Mammary Neoplasms no_association ISO RGD:1312068 D RGD:9068941 20200609 RGD in vitro transformation of transfected C57MG mammary epithelial cell line PMID:8065359|REF_RGD_ID:2298863 11899286 RAD21 RAD21 cohesin complex component gene DOID:0050866 oral squamous cell carcinoma exacerbates ISO RGD:1317642 D RGD:9068941 20211022 RGD mRNA:decreased expression:oral cavity (human) PMID:16416296|REF_RGD_ID:150520028 11899286 RAD21 RAD21 cohesin complex component gene DOID:0080199 colorectal carcinoma exacerbates ISO RGD:1317642 D RGD:9068941 20211022 RGD mRNA, protein:increased expression:colorectum (human) PMID:30546056|REF_RGD_ID:150520034 11899286 RAD21 RAD21 cohesin complex component gene DOID:0080508 Cornelia de Lange syndrome 4 ISO RGD:1317642 D RGD:7240710 20180130 OMIM 11899286 RAD21 RAD21 cohesin complex component gene DOID:0080508 Cornelia de Lange syndrome 4 ISO RGD:1317642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 4 PMID:17576681|PMID:18414213|PMID:22633399|PMID:24378232|PMID:25326637|PMID:25741868|PMID:27620904|PMID:27882533|PMID:28492532|PMID:30125677|PMID:30158690|PMID:30716475|PMID:31173765|PMID:31334757|PMID:32193685|PMID:32696056|PMID:9536098 11899286 RAD21 RAD21 cohesin complex component gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:1317642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome PMID:27993330 11899286 RAD21 RAD21 cohesin complex component gene DOID:11725 Cornelia de Lange syndrome ISO RGD:1317642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: De Lange syndrome 11899286 RAD21 RAD21 cohesin complex component gene DOID:1380 endometrial cancer onset ISO RGD:1317642 D RGD:9068941 20230427 RGD DNA:CNV: (human) PMID:25546926|REF_RGD_ID:329322876 11899286 RAD21 RAD21 cohesin complex component gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1317642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11899286 RAD21 RAD21 cohesin complex component gene DOID:206 hereditary multiple exostoses ISO RGD:1317642 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 11899286 RAD21 RAD21 cohesin complex component gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1317642 D RGD:9068941 20211022 RGD mRNA:increased expression:lung (human) PMID:32178590|REF_RGD_ID:150520031 11899286 RAD21 RAD21 cohesin complex component gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1317642 D RGD:9068941 20211022 RGD DNA:SNP:intron: (rs1374297) (human) PMID:28977903|REF_RGD_ID:150520036 11899286 RAD21 RAD21 cohesin complex component gene DOID:630 genetic disease ISO RGD:1317642 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:22633399|PMID:24378232|PMID:25125236|PMID:25741868|PMID:27882533|PMID:28441377|PMID:28492532|PMID:31173765 11899286 RAD21 RAD21 cohesin complex component gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1317642 D RGD:9068941 20211022 RGD mRNA:increased expression:liver (human) PMID:32596342|REF_RGD_ID:150520035 11899286 RAD21 RAD21 cohesin complex component gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1317642 D RGD:9068941 20211022 RGD protein:increased expression:liver (human) PMID:28434945|REF_RGD_ID:150520030 11899286 RAD21 RAD21 cohesin complex component gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1317642 D RGD:9068941 20211022 RGD associated with hepatitis c, liver cirrhosis;mRNA:increased expression:liver (human) PMID:30698808|REF_RGD_ID:150520029 11899286 RAD21 RAD21 cohesin complex component gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1317642 D RGD:9068941 20211022 RGD human cells in a mouse model PMID:33251678|REF_RGD_ID:150520026 11899286 RAD21 RAD21 cohesin complex component gene DOID:7474 malignant pleural mesothelioma ISO RGD:1317642 D RGD:9068941 20211022 RGD PMID:19380173|REF_RGD_ID:150520037 11899286 RAD21 RAD21 cohesin complex component gene DOID:8692 myeloid leukemia ISO RGD:1317642 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23955599 11899286 RAD21 RAD21 cohesin complex component gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1594529 D RGD:9068941 20230415 RGD PMID:33741460|REF_RGD_ID:243065262 11899286 RAD21 RAD21 cohesin complex component gene DOID:9002676 Cerebral Hemorrhage severity ISO RGD:1594529 D RGD:9068941 20230420 RGD PMID:36538854|REF_RGD_ID:243065265 11899286 RAD21 RAD21 cohesin complex component gene DOID:9003170 Mungan Syndrome ISO RGD:1317642 D RGD:7240710 20190315 OMIM 11899286 RAD21 RAD21 cohesin complex component gene DOID:9003170 Mungan Syndrome ISO RGD:1317642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mungan syndrome PMID:14638363|PMID:18414213|PMID:25575569|PMID:25741868|PMID:28492532 11899286 RAD21 RAD21 cohesin complex component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 11899310 RGS4 regulator of G protein signaling 4 gene DOID:0080855 Parkinsonism treatment ISO RGD:70083 D RGD:9068941 20200609 RGD PMID:25844489|REF_RGD_ID:13524517 11899310 RGS4 regulator of G protein signaling 4 gene DOID:10763 hypertension treatment ISO RGD:3567 D RGD:9068941 20200609 RGD PMID:21825230|REF_RGD_ID:7207400 11899310 RGS4 regulator of G protein signaling 4 gene DOID:11206 opioid abuse ISO RGD:3567 D RGD:9068941 20200609 RGD PMID:22056472|REF_RGD_ID:13524518 11899310 RGS4 regulator of G protein signaling 4 gene DOID:12528 lesion of sciatic nerve ISO RGD:3567 D RGD:9068941 20200609 RGD mRNA:decreased expression:dorsal root ganglion PMID:14550772|REF_RGD_ID:13524539 11899310 RGS4 regulator of G protein signaling 4 gene DOID:1540 parathyroid carcinoma ISO RGD:70082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11899310 RGS4 regulator of G protein signaling 4 gene DOID:1824 status epilepticus ISO RGD:3567 D RGD:9068941 20200609 RGD PMID:19126440|REF_RGD_ID:13524534 11899310 RGS4 regulator of G protein signaling 4 gene DOID:1826 epilepsy treatment ISO RGD:3567 D RGD:9068941 20200609 RGD PMID:28320185|REF_RGD_ID:13524511 11899310 RGS4 regulator of G protein signaling 4 gene DOID:289 endometriosis ISO RGD:70082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11899310 RGS4 regulator of G protein signaling 4 gene DOID:365 bladder disease treatment ISO RGD:3567 D RGD:9068941 20200609 RGD associated with hypertension PMID:19689474|REF_RGD_ID:9684972 11899310 RGS4 regulator of G protein signaling 4 gene DOID:630 genetic disease ISO RGD:70082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899310 RGS4 regulator of G protein signaling 4 gene DOID:9002211 Hyperalgesia treatment ISO RGD:3567 D RGD:9068941 20200609 RGD associated with lesion of sciatic nerve PMID:27641322|REF_RGD_ID:13524513 11899310 RGS4 regulator of G protein signaling 4 gene DOID:9007090 Experimental Seizures ISO RGD:3567 D RGD:9068941 20200609 RGD PMID:12358788|REF_RGD_ID:13524540 11899310 RGS4 regulator of G protein signaling 4 gene DOID:9008394 Drug-Induced Dyskinesia treatment ISO RGD:3567 D RGD:9068941 20200609 RGD associated with Parkinsonian Disorders PMID:24969021|REF_RGD_ID:13524515 11899310 RGS4 regulator of G protein signaling 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:70082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11899321 CAPN2 calpain 2 gene DOID:0081292 traumatic brain injury ISO RGD:2268 D RGD:9068941 20200609 RGD PMID:9469158|REF_RGD_ID:13792664 11899321 CAPN2 calpain 2 gene DOID:10652 Alzheimer's disease ISO RGD:732800 D RGD:9068941 20200609 RGD protein:increased expression:cytosol PMID:9654354|REF_RGD_ID:13792661 11899321 CAPN2 calpain 2 gene DOID:11446 sciatic neuropathy ISO RGD:2268 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle tissue of tibialis anterior PMID:24745757|REF_RGD_ID:13792589 11899321 CAPN2 calpain 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:2268 D RGD:9068941 20200609 RGD protein:increased expression, activity:nucleus PMID:25820375|REF_RGD_ID:13792650 11899321 CAPN2 calpain 2 gene DOID:1540 parathyroid carcinoma ISO RGD:732800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11899321 CAPN2 calpain 2 gene DOID:1561 cognitive disorder ISO RGD:732800 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31672664 11899321 CAPN2 calpain 2 gene DOID:630 genetic disease ISO RGD:732800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899321 CAPN2 calpain 2 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2268 D RGD:9068941 20200609 RGD PMID:25150005|REF_RGD_ID:13792585 11899321 CAPN2 calpain 2 gene DOID:9002211 Hyperalgesia treatment ISO RGD:2268 D RGD:9068941 20200609 RGD associated with Peripheral Nerve Injuries PMID:25150005|REF_RGD_ID:13792585 11899321 CAPN2 calpain 2 gene DOID:9007659 Anthracycline-induced Cardiotoxicity treatment ISO RGD:2268 D RGD:9068941 20200609 RGD PMID:25634181|REF_RGD_ID:13792617 11899321 CAPN2 calpain 2 gene DOID:9119 acute myeloid leukemia ISO RGD:732800 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11899321 CAPN2 calpain 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11899346 OSBPL9 oxysterol binding protein like 9 gene DOID:630 genetic disease ISO RGD:1323003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899393 ECHS1 enoyl-CoA hydratase, short chain 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:734312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11899393 ECHS1 enoyl-CoA hydratase, short chain 1 gene DOID:3652 Leigh disease ISO RGD:734312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25393721|PMID:25741868|PMID:28492532|PMID:32677908|PMID:33139125|PMID:33163364 11899393 ECHS1 enoyl-CoA hydratase, short chain 1 gene DOID:630 genetic disease ISO RGD:734312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25393721|PMID:25741868|PMID:26000322|PMID:26081110|PMID:26099313|PMID:26467025|PMID:27090768|PMID:28039521|PMID:28492532|PMID:30008475|PMID:31216405|PMID:31219693|PMID:32677093|PMID:32677908|PMID:32858208 11899393 ECHS1 enoyl-CoA hydratase, short chain 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:734312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 11899393 ECHS1 enoyl-CoA hydratase, short chain 1 gene DOID:9003746 MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY ISO RGD:734312 D RGD:7240710 20180130 OMIM 11899393 ECHS1 enoyl-CoA hydratase, short chain 1 gene DOID:9003746 MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY ISO RGD:734312 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency PMID:17576681|PMID:25125611|PMID:25393721|PMID:25741868|PMID:26000322|PMID:26081110|PMID:26099313|PMID:26251176|PMID:26467025|PMID:26938784|PMID:27090768|PMID:27905109|PMID:28039521|PMID:28202214|PMID:28409271|PMID:28429146|PMID:28492532|PMID:29575569|PMID:30008475|PMID:30029642|PMID:30634555|PMID:31216405|PMID:31219693|PMID:32013919|PMID:32313153|PMID:32642440|PMID:32677093|PMID:32677908|PMID:32858208|PMID:33112498|PMID:33139125|PMID:33163364|PMID:9536098 11899393 ECHS1 enoyl-CoA hydratase, short chain 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11899393 ECHS1 enoyl-CoA hydratase, short chain 1 gene DOID:9970 obesity ISO RGD:734312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 11899409 HNRNPU heterogeneous nuclear ribonucleoprotein U gene DOID:0060041 autism spectrum disorder ISO RGD:731482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11899409 HNRNPU heterogeneous nuclear ribonucleoprotein U gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:731482 D RGD:7240710 20190315 OMIM 11899409 HNRNPU heterogeneous nuclear ribonucleoprotein U gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:731482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 54 PMID:16199547|PMID:17576681|PMID:22678713|PMID:23708187|PMID:25356899|PMID:25741868|PMID:26467025|PMID:27652284|PMID:28166811|PMID:28283832|PMID:28492532|PMID:28815871|PMID:28944577|PMID:29170628|PMID:30866059|PMID:32319732|PMID:32488064|PMID:9536098 11899409 HNRNPU heterogeneous nuclear ribonucleoprotein U gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:731482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 11899409 HNRNPU heterogeneous nuclear ribonucleoprotein U gene DOID:1059 intellectual disability ISO RGD:731482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11899409 HNRNPU heterogeneous nuclear ribonucleoprotein U gene DOID:1540 parathyroid carcinoma ISO RGD:731482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11899409 HNRNPU heterogeneous nuclear ribonucleoprotein U gene DOID:1826 epilepsy ISO RGD:731482 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25326635|PMID:25741868|PMID:28815871 11899409 HNRNPU heterogeneous nuclear ribonucleoprotein U gene DOID:630 genetic disease ISO RGD:731482 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:26845106|PMID:28393272|PMID:28492532 11899409 HNRNPU heterogeneous nuclear ribonucleoprotein U gene DOID:9001793 Generalized Epilepsy ISO RGD:731482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:22678713|PMID:25326635|PMID:25741868|PMID:28283832|PMID:28492532|PMID:28815871 11899409 HNRNPU heterogeneous nuclear ribonucleoprotein U gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:731482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:28492532 11899409 HNRNPU heterogeneous nuclear ribonucleoprotein U gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 11899409 HNRNPU heterogeneous nuclear ribonucleoprotein U gene DOID:9005154 Myoclonic Epilepsies ISO RGD:731482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myoclonic absence seizure PMID:25741868|PMID:28492532 11899409 HNRNPU heterogeneous nuclear ribonucleoprotein U gene DOID:9006016 SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS ISO RGD:731482 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizures, early-onset, with neurodegeneration and brain calcifications PMID:25741868 11899409 HNRNPU heterogeneous nuclear ribonucleoprotein U gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11899409 HNRNPU heterogeneous nuclear ribonucleoprotein U gene DOID:9256 colorectal cancer ISO RGD:731482 D RGD:9068941 20200609 RGD protein:decreased expression:colonic epithelium, nucleus (human) PMID:21194727|REF_RGD_ID:9999439 11899438 EPB41L1 erythrocyte membrane protein band 4.1 like 1 gene DOID:0070041 autosomal dominant intellectual developmental disorder 11 ISO RGD:733700 D RGD:7240710 20180130 OMIM 11899438 EPB41L1 erythrocyte membrane protein band 4.1 like 1 gene DOID:0070041 autosomal dominant intellectual developmental disorder 11 ISO RGD:733700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 11 PMID:11050113|PMID:19503082|PMID:21376300|PMID:25326635|PMID:25741868 11899438 EPB41L1 erythrocyte membrane protein band 4.1 like 1 gene DOID:1059 intellectual disability ISO RGD:733700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11899438 EPB41L1 erythrocyte membrane protein band 4.1 like 1 gene DOID:630 genetic disease ISO RGD:733700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11899497 SH3BP5L SH3 binding domain protein 5 like gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1606500 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11899497 SH3BP5L SH3 binding domain protein 5 like gene DOID:630 genetic disease ISO RGD:1606500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899502 LOC100992900 histone H2B type 1-B gene DOID:630 genetic disease ISO RGD:1343461 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899506 MYL3 myosin light chain 3 gene DOID:0050638 transthyretin amyloidosis ISO RGD:736456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis PMID:24033266|PMID:24510615|PMID:25741868|PMID:28492532 11899506 MYL3 myosin light chain 3 gene DOID:0050700 cardiomyopathy ISO RGD:736456 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:08673105|PMID:11174330|PMID:12021217|PMID:16754800|PMID:17142342|PMID:18403758|PMID:18409188|PMID:20641121|PMID:21239446|PMID:21823217|PMID:21885653|PMID:22131351|PMID:22957257|PMID:22958901|PMID:23054336|PMID:23283745|PMID:23396983|PMID:23426552|PMID:23549607|PMID:23594557|PMID:23748425|PMID:24033266|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24911555|PMID:25086479|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25856671|PMID:25910212|PMID:26385864|PMID:26443374|PMID:26633542|PMID:27153395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27831900|PMID:28166811|PMID:28193612|PMID:28241245|PMID:28301460|PMID:28356264|PMID:28371863|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28615295|PMID:28658286|PMID:28771489|PMID:28790153|PMID:28971120|PMID:29121657|PMID:29253866|PMID:29420653|PMID:29540472|PMID:29669825|PMID:29709087|PMID:29710196|PMID:29914921|PMID:30297972|PMID:30706179|PMID:31110529|PMID:31199839|PMID:31447099|PMID:31513939|PMID:31737537|PMID:32380161|PMID:32492895|PMID:32686758|PMID:32906206|PMID:33087929|PMID:33407484|PMID:33726816|PMID:8673105 11899506 MYL3 myosin light chain 3 gene DOID:0050700 cardiomyopathy ISO RGD:736456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:08673105|PMID:11174330|PMID:12021217|PMID:16754800|PMID:17142342|PMID:18403758|PMID:18409188|PMID:20641121|PMID:21239446|PMID:21823217|PMID:21885653|PMID:22131351|PMID:22957257|PMID:22958901|PMID:23054336|PMID:23283745|PMID:23304510|PMID:23396983|PMID:23426552|PMID:23549607|PMID:23594557|PMID:23748425|PMID:24033266|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24784157|PMID:24911555|PMID:25086479|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25856671|PMID:25910212|PMID:26332594|PMID:26385864|PMID:26443374|PMID:26633542|PMID:26779504|PMID:27153395|PMID:27332903|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27831900|PMID:28193612|PMID:28241245|PMID:28301460|PMID:28356264|PMID:28371863|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28615295|PMID:28658286|PMID:28771489|PMID:28790153|PMID:28971120|PMID:29121657|PMID:29253866|PMID:29343803|PMID:29386531|PMID:29398688|PMID:29420653|PMID:29540472|PMID:29669825|PMID:29709087|PMID:29710196|PMID:29914921|PMID:30297972|PMID:30706179|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31131433|PMID:31199839|PMID:31447099|PMID:31513939|PMID:31618753|PMID:31737537|PMID:32009526|PMID:32380161|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33288880|PMID:33407484|PMID:33495597|PMID:33662488|PMID:33726816|PMID:34426522|PMID:8673105 11899506 MYL3 myosin light chain 3 gene DOID:0050700 cardiomyopathy ISO RGD:736456 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:08673105|PMID:11174330|PMID:12021217|PMID:16754800|PMID:17142342|PMID:18403758|PMID:18409188|PMID:20641121|PMID:21239446|PMID:21823217|PMID:21885653|PMID:22131351|PMID:22957257|PMID:22958901|PMID:23054336|PMID:23283745|PMID:23304510|PMID:23396983|PMID:23426552|PMID:23549607|PMID:23594557|PMID:23748425|PMID:24033266|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24784157|PMID:24911555|PMID:25086479|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25856671|PMID:25910212|PMID:26332594|PMID:26385864|PMID:26443374|PMID:26633542|PMID:26779504|PMID:27153395|PMID:27332903|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27831900|PMID:28193612|PMID:28241245|PMID:28301460|PMID:28356264|PMID:28371863|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28615295|PMID:28658286|PMID:28771489|PMID:28790153|PMID:28971120|PMID:29121657|PMID:29253866|PMID:29343803|PMID:29386531|PMID:29398688|PMID:29420653|PMID:29540472|PMID:29669825|PMID:29709087|PMID:29710196|PMID:29914921|PMID:30297972|PMID:30665703|PMID:30706179|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31131433|PMID:31199839|PMID:31447099|PMID:31513939|PMID:31554435|PMID:31618753|PMID:31737537|PMID:32009526|PMID:32380161|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33288880|PMID:33407484|PMID:33495597|PMID:33662488|PMID:33726816|PMID:34426522|PMID:35629155|PMID:35653365|PMID:8673105 11899506 MYL3 myosin light chain 3 gene DOID:0060387 chondrodysplasia Blomstrand type ISO RGD:736456 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type 11899506 MYL3 myosin light chain 3 gene DOID:0080020 Jansen's metaphyseal chondrodysplasia ISO RGD:736456 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, Jansen type 11899506 MYL3 myosin light chain 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736456 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11174330|PMID:12021217|PMID:16754800|PMID:18409188|PMID:20641121|PMID:21239446|PMID:21823217|PMID:22131351|PMID:22957257|PMID:22958901|PMID:23283745|PMID:23304510|PMID:23396983|PMID:23426552|PMID:23549607|PMID:23594557|PMID:23748425|PMID:24033266|PMID:24111713|PMID:24784157|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25910212|PMID:26332594|PMID:26443374|PMID:26633542|PMID:26779504|PMID:27153395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:28166811|PMID:28301460|PMID:28356264|PMID:28371863|PMID:28492532|PMID:28518168|PMID:28658286|PMID:28771489|PMID:28971120|PMID:29343803|PMID:29669825|PMID:29710196|PMID:29914921|PMID:30165862|PMID:30297972|PMID:30706179|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31131433|PMID:31199839|PMID:31447099|PMID:31737537|PMID:32746448|PMID:32906206|PMID:33288880|PMID:33495597|PMID:34426522|PMID:8673105 11899506 MYL3 myosin light chain 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736456 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11174330|PMID:12021217|PMID:16754800|PMID:18409188|PMID:20641121|PMID:21239446|PMID:21823217|PMID:22131351|PMID:22957257|PMID:22958901|PMID:23283745|PMID:23304510|PMID:23396983|PMID:23426552|PMID:23549607|PMID:23594557|PMID:23748425|PMID:24033266|PMID:24111713|PMID:24784157|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25910212|PMID:26332594|PMID:26443374|PMID:26633542|PMID:26779504|PMID:27153395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:28301460|PMID:28356264|PMID:28371863|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28658286|PMID:28771489|PMID:28971120|PMID:29343803|PMID:29398688|PMID:29669825|PMID:29710196|PMID:29914921|PMID:30165862|PMID:30297972|PMID:30665703|PMID:30706179|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31131433|PMID:31199839|PMID:31447099|PMID:31513939|PMID:31554435|PMID:31618753|PMID:31737537|PMID:32746448|PMID:32906206|PMID:33288880|PMID:33495597|PMID:33673806|PMID:34426522|PMID:35629155|PMID:35653365|PMID:8673105 11899506 MYL3 myosin light chain 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736456 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:11174330|PMID:12021217|PMID:16754800|PMID:18409188|PMID:20641121|PMID:21239446|PMID:21823217|PMID:22131351|PMID:22957257|PMID:22958901|PMID:23283745|PMID:23304510|PMID:23396983|PMID:23426552|PMID:23549607|PMID:23594557|PMID:23748425|PMID:24033266|PMID:24111713|PMID:24784157|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25910212|PMID:26332594|PMID:26443374|PMID:26633542|PMID:26779504|PMID:27153395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:28301460|PMID:28356264|PMID:28371863|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28658286|PMID:28771489|PMID:28971120|PMID:29343803|PMID:29398688|PMID:29669825|PMID:29710196|PMID:29914921|PMID:30297972|PMID:30665703|PMID:30706179|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31131433|PMID:31199839|PMID:31447099|PMID:31554435|PMID:31618753|PMID:32746448|PMID:32906206|PMID:33288880|PMID:33495597|PMID:34426522|PMID:35629155|PMID:35653365|PMID:8673105 11899506 MYL3 myosin light chain 3 gene DOID:0110314 hypertrophic cardiomyopathy 8 ISO RGD:736456 D RGD:7240710 20180130 OMIM 11899506 MYL3 myosin light chain 3 gene DOID:0110314 hypertrophic cardiomyopathy 8 ISO RGD:736456 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 8 PMID:08673105|PMID:11174330|PMID:12021217|PMID:16199547|PMID:16267253|PMID:16754800|PMID:17142342|PMID:17576681|PMID:18403758|PMID:18409188|PMID:20641121|PMID:21239446|PMID:21823217|PMID:21885653|PMID:22131351|PMID:22957257|PMID:22958901|PMID:23054336|PMID:23283745|PMID:23304510|PMID:23426552|PMID:23549607|PMID:23594557|PMID:23748425|PMID:24033266|PMID:24111713|PMID:24784157|PMID:24911555|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25856671|PMID:25910212|PMID:26332594|PMID:26385864|PMID:26443374|PMID:26633542|PMID:26779504|PMID:27153395|PMID:27332903|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27831900|PMID:28193612|PMID:28241245|PMID:28356264|PMID:28371863|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28615295|PMID:28658286|PMID:28771489|PMID:28790153|PMID:28971120|PMID:29121657|PMID:29253866|PMID:29343803|PMID:29398688|PMID:29669825|PMID:29709087|PMID:29710196|PMID:29914921|PMID:30297972|PMID:30665703|PMID:30706179|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31131433|PMID:31199839|PMID:31447099|PMID:31513939|PMID:31554435|PMID:31618753|PMID:31737537|PMID:32380161|PMID:32492895|PMID:32686758|PMID:32746448|PMID:33087929|PMID:33288880|PMID:33407484|PMID:33495597|PMID:33662488|PMID:33726816|PMID:34426522|PMID:35629155|PMID:35653365|PMID:6211078|PMID:8673105|PMID:9536098 11899506 MYL3 myosin light chain 3 gene DOID:0111425 restrictive cardiomyopathy 1 ISO RGD:736456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 PMID:08673105|PMID:17142342|PMID:22131351|PMID:22958901|PMID:23054336|PMID:23283745|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28790153|PMID:29253866|PMID:29709087|PMID:31110529|PMID:8673105 11899506 MYL3 myosin light chain 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736456 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:08673105|PMID:11174330|PMID:12021217|PMID:16199547|PMID:16267253|PMID:16754800|PMID:17142342|PMID:17576681|PMID:18403758|PMID:18409188|PMID:20031618|PMID:20641121|PMID:21239446|PMID:21823217|PMID:21885653|PMID:21896538|PMID:22131351|PMID:22957257|PMID:22958901|PMID:23054336|PMID:23283745|PMID:23304510|PMID:23396983|PMID:23426552|PMID:23549607|PMID:23594557|PMID:23748425|PMID:24033266|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24784157|PMID:24911555|PMID:25086479|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25856671|PMID:25910212|PMID:26332594|PMID:26385864|PMID:26443374|PMID:26633542|PMID:26779504|PMID:27153395|PMID:27332903|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27831900|PMID:28193612|PMID:28241245|PMID:28301460|PMID:28356264|PMID:28371863|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28615295|PMID:28658286|PMID:28771489|PMID:28790153|PMID:28971120|PMID:29121657|PMID:29253866|PMID:29343803|PMID:29386531|PMID:29398688|PMID:29420653|PMID:29540472|PMID:29669825|PMID:29709087|PMID:29710196|PMID:29914921|PMID:30165862|PMID:30297972|PMID:30665703|PMID:30706179|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31131433|PMID:31199839|PMID:31447099|PMID:31513939|PMID:31554435|PMID:31618753|PMID:31737537|PMID:32009526|PMID:32380161|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33288880|PMID:33407484|PMID:33495597|PMID:33662488|PMID:33673806|PMID:33726816|PMID:34426522|PMID:35629155|PMID:35653365|PMID:6211078|PMID:8673105|PMID:9536098 11899506 MYL3 myosin light chain 3 gene DOID:397 restrictive cardiomyopathy ISO RGD:736456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:24111713|PMID:25132132|PMID:25741868|PMID:27532257|PMID:28492532 11899506 MYL3 myosin light chain 3 gene DOID:630 genetic disease ISO RGD:736456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11899506 MYL3 myosin light chain 3 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:736456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11899506 MYL3 myosin light chain 3 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:736456 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Increased left ventricular wall thickness PMID:16754800|PMID:22958901|PMID:23549607|PMID:24033266|PMID:24111713|PMID:25132132|PMID:25637381|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30665703|PMID:33495597|PMID:35653365 11899517 EIF4ENIF1 eukaryotic translation initiation factor 4E nuclear import factor 1 gene DOID:630 genetic disease ISO RGD:1320332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899550 ALKBH1 alkB homolog 1, histone H2A dioxygenase gene DOID:630 genetic disease ISO RGD:1318033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899589 TMEM229B transmembrane protein 229B gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1348278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 11899589 TMEM229B transmembrane protein 229B gene DOID:630 genetic disease ISO RGD:1348278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899600 CAPRIN2 caprin family member 2 gene DOID:630 genetic disease ISO RGD:1604605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899664 TGM7 transglutaminase 7 gene DOID:2717 Bloom syndrome ISO RGD:1316891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11899664 TGM7 transglutaminase 7 gene DOID:630 genetic disease ISO RGD:1316891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899664 TGM7 transglutaminase 7 gene DOID:9256 colorectal cancer ISO RGD:1316891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11899681 LUC7L2 LUC7 like 2, pre-mRNA splicing factor gene DOID:0080690 RASopathy ISO RGD:1318546 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 11899681 LUC7L2 LUC7 like 2, pre-mRNA splicing factor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318546 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11899681 LUC7L2 LUC7 like 2, pre-mRNA splicing factor gene DOID:630 genetic disease ISO RGD:1318546 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899712 ZFP57 ZFP57 zinc finger protein gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:1344217 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive PMID:18414213|PMID:25741868|PMID:28492532|PMID:30315371|PMID:31064016 11899712 ZFP57 ZFP57 zinc finger protein gene DOID:11372 megacolon ISO RGD:1344217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11899712 ZFP57 ZFP57 zinc finger protein gene DOID:630 genetic disease ISO RGD:1344217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11899712 ZFP57 ZFP57 zinc finger protein gene DOID:9004783 Transient Neonatal Diabetes Mellitus, 1 ISO RGD:1344217 D RGD:7240710 20180130 OMIM 11899712 ZFP57 ZFP57 zinc finger protein gene DOID:9004783 Transient Neonatal Diabetes Mellitus, 1 ISO RGD:1344217 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: 6q24-RELATED DIABETES MELLITUS | ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 1 PMID:18197189|PMID:18414213|PMID:18622393|PMID:23499433|PMID:23748067|PMID:25741868|PMID:28492532|PMID:30315371|PMID:31064016 11899712 ZFP57 ZFP57 zinc finger protein gene DOID:9351 diabetes mellitus ISO RGD:1344217 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:18414213|PMID:23748067|PMID:25741868|PMID:28492532|PMID:30315371|PMID:31064016 11899721 TENT5C terminal nucleotidyltransferase 5C gene DOID:630 genetic disease ISO RGD:1352086 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899736 TONSL tonsoku like, DNA repair protein gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1316704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11899736 TONSL tonsoku like, DNA repair protein gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1316704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11899736 TONSL tonsoku like, DNA repair protein gene DOID:11612 polycystic ovary syndrome ISO RGD:1316704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11899736 TONSL tonsoku like, DNA repair protein gene DOID:4621 holoprosencephaly ISO RGD:1316704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11899736 TONSL tonsoku like, DNA repair protein gene DOID:5684 spondyloepimetaphyseal dysplasia, Sponastrime type ISO RGD:1316704 D RGD:7240710 20190731 OMIM 11899736 TONSL tonsoku like, DNA repair protein gene DOID:5684 spondyloepimetaphyseal dysplasia, Sponastrime type ISO RGD:1316704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sponastrime dysplasia | ClinVar Annotator: match by term: TONSL-related condition PMID:10797420|PMID:17576681|PMID:25741868|PMID:28492532|PMID:30773277|PMID:30773278|PMID:9536098 11899736 TONSL tonsoku like, DNA repair protein gene DOID:630 genetic disease ISO RGD:1316704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11899736 TONSL tonsoku like, DNA repair protein gene DOID:684 hepatocellular carcinoma ISO RGD:1316704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11899736 TONSL tonsoku like, DNA repair protein gene DOID:9008086 Developmental Disabilities ISO RGD:1316704 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 11899770 LOC100990924 NKG2-A/NKG2-B type II integral membrane protein gene DOID:1883 hepatitis C disease_progression ISO RGD:1353186 D RGD:9068941 20201112 RGD protein:increased expression:peripheral blood mononuclear cell, natural killer c PMID:17553896|REF_RGD_ID:40400745 11899770 LOC100990924 NKG2-A/NKG2-B type II integral membrane protein gene DOID:630 genetic disease ISO RGD:1353186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899770 LOC100990924 NKG2-A/NKG2-B type II integral membrane protein gene DOID:9004017 Chronic Hepatitis C ISO RGD:1353186 D RGD:9068941 20201118 RGD protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:16322112|REF_RGD_ID:40818296 11899770 LOC100990924 NKG2-A/NKG2-B type II integral membrane protein gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1353186 D RGD:9068941 20201112 RGD PMID:20550548|PMID:31218578|REF_RGD_ID:40400920|REF_RGD_ID:40818079 11899770 LOC100990924 NKG2-A/NKG2-B type II integral membrane protein gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:1353186 D RGD:9068941 20201105 RGD protein:increased expression:Peripheral blood mononuclear cell, natural killer cell (human) PMID:28328926|REF_RGD_ID:40400737 11899792 PDK2 pyruvate dehydrogenase kinase 2 gene DOID:0050700 cardiomyopathy ISO RGD:69481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21037199 11899792 PDK2 pyruvate dehydrogenase kinase 2 gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:69481 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:23949819|PMID:25944380|PMID:26478226|PMID:28492532|PMID:7942841|PMID:9295084|PMID:9443882 11899792 PDK2 pyruvate dehydrogenase kinase 2 gene DOID:630 genetic disease ISO RGD:69481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899807 SPINK2 serine peptidase inhibitor Kazal type 2 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1349585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:28492532 11899807 SPINK2 serine peptidase inhibitor Kazal type 2 gene DOID:0111930 spermatogenic failure 29 ISO RGD:1349585 D RGD:7240710 20190315 OMIM 11899807 SPINK2 serine peptidase inhibitor Kazal type 2 gene DOID:0111930 spermatogenic failure 29 ISO RGD:1349585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 29 PMID:25741868|PMID:28554943 11899807 SPINK2 serine peptidase inhibitor Kazal type 2 gene DOID:630 genetic disease ISO RGD:1349585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899843 DIXDC1 DIX domain containing 1 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1320498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 11899843 DIXDC1 DIX domain containing 1 gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:1320498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:25966638|PMID:28492532 11899843 DIXDC1 DIX domain containing 1 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1320498 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 11899843 DIXDC1 DIX domain containing 1 gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:1320498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:28492532 11899843 DIXDC1 DIX domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1320498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11899843 DIXDC1 DIX domain containing 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1320498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11899843 DIXDC1 DIX domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1320498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27752079 11899843 DIXDC1 DIX domain containing 1 gene DOID:1596 depressive disorder ISO RGD:1320498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27752079 11899843 DIXDC1 DIX domain containing 1 gene DOID:2030 anxiety disorder ISO RGD:1320498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27752079 11899843 DIXDC1 DIX domain containing 1 gene DOID:3312 bipolar disorder ISO RGD:1320498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27752079 11899843 DIXDC1 DIX domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1320498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27752079 11899843 DIXDC1 DIX domain containing 1 gene DOID:630 genetic disease ISO RGD:1320498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899843 DIXDC1 DIX domain containing 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1320498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11899843 DIXDC1 DIX domain containing 1 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1320498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 11899843 DIXDC1 DIX domain containing 1 gene DOID:9970 obesity ISO RGD:1320498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity 11899879 CYREN cell cycle regulator of NHEJ gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11899879 CYREN cell cycle regulator of NHEJ gene DOID:630 genetic disease ISO RGD:1602100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899909 SLC5A4 solute carrier family 5 member 4 gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1315814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 11899909 SLC5A4 solute carrier family 5 member 4 gene DOID:630 genetic disease ISO RGD:1315814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899909 SLC5A4 solute carrier family 5 member 4 gene DOID:9001750 Glucose-Galactose Malabsorption ISO RGD:1315814 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital glucose-galactose malabsorption PMID:28492532 11899928 COL9A3 collagen type IX alpha 3 chain gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1321049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11899928 COL9A3 collagen type IX alpha 3 chain gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1321049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11899928 COL9A3 collagen type IX alpha 3 chain gene DOID:0070304 multiple epiphyseal dysplasia 3 ISO RGD:1321049 D RGD:7240710 20230517 OMIM 11899928 COL9A3 collagen type IX alpha 3 chain gene DOID:0070304 multiple epiphyseal dysplasia 3 ISO RGD:1321049 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 3 | ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 3, with myopathy PMID:10090888|PMID:10655510|PMID:10678658|PMID:15551337|PMID:16199547|PMID:24033266|PMID:24273071|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31090205|PMID:33570243 11899928 COL9A3 collagen type IX alpha 3 chain gene DOID:0080046 Stickler syndrome ISO RGD:1321049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive Stickler syndrome | ClinVar Annotator: match by term: Stickler syndrome PMID:24273071|PMID:25741868|PMID:28492532|PMID:30450842|PMID:31090205|PMID:33570243 11899928 COL9A3 collagen type IX alpha 3 chain gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1321049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11899928 COL9A3 collagen type IX alpha 3 chain gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1321049 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11899928 COL9A3 collagen type IX alpha 3 chain gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1321049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11899928 COL9A3 collagen type IX alpha 3 chain gene DOID:10003 sensorineural hearing loss ISO RGD:1321049 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:25741868|PMID:28492532 11899928 COL9A3 collagen type IX alpha 3 chain gene DOID:12721 multiple epiphyseal dysplasia ISO RGD:1321049 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant PMID:28492532 11899928 COL9A3 collagen type IX alpha 3 chain gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1321049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 11899928 COL9A3 collagen type IX alpha 3 chain gene DOID:1826 epilepsy ISO RGD:1321049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 11899928 COL9A3 collagen type IX alpha 3 chain gene DOID:2256 osteochondrodysplasia ISO RGD:1321049 D RGD:9068941 20200609 RGD multiple epiphyseal dysplasia, OMIM:600969, DNA:splice-site mutation PMID:10090888|REF_RGD_ID:1600695 11899928 COL9A3 collagen type IX alpha 3 chain gene DOID:5327 retinal detachment ISO RGD:1321049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal detachment PMID:25741868|PMID:28492532 11899928 COL9A3 collagen type IX alpha 3 chain gene DOID:630 genetic disease ISO RGD:1321049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24273071|PMID:25741868|PMID:28492532|PMID:30311386|PMID:31090205 11899928 COL9A3 collagen type IX alpha 3 chain gene DOID:65 connective tissue disease ISO RGD:1321049 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:11308397|PMID:11565064|PMID:15917166|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28507545|PMID:30467950 11899928 COL9A3 collagen type IX alpha 3 chain gene DOID:9000585 Intervertebral Disc Disease ISO RGD:1321049 D RGD:7240710 20230517 OMIM 11899928 COL9A3 collagen type IX alpha 3 chain gene DOID:9000585 Intervertebral Disc Disease ISO RGD:1321049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intervertebral disc disease | ClinVar Annotator: match by term: Intervertebral disc disease, susceptibility to PMID:11308397|PMID:24273071|PMID:25741868|PMID:28492532|PMID:31090205|PMID:33570243 11899928 COL9A3 collagen type IX alpha 3 chain gene DOID:9000819 Stickler Syndrome, Type VI ISO RGD:1321049 D RGD:7240710 20230517 OMIM 11899928 COL9A3 collagen type IX alpha 3 chain gene DOID:9000819 Stickler Syndrome, Type VI ISO RGD:1321049 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Stickler syndrome, type VI PMID:24273071|PMID:25741868|PMID:28492532|PMID:30450842|PMID:31090205|PMID:33570243|PMID:35241111 11899928 COL9A3 collagen type IX alpha 3 chain gene DOID:9004538 Hearing Loss ISO RGD:1321049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30311386 11899928 COL9A3 collagen type IX alpha 3 chain gene DOID:9006876 Autoinflammation, Immunde Dysregulation, and Eosinophilia ISO RGD:12254343 D RGD:9068941 20210903 OMIA Oculoskeletal dysplasia 1 PMID:1525714|PMID:20686772|PMID:22065099|PMID:31415586|PMID:31595625|PMID:31746146|PMID:3204050|PMID:830631 11899971 LOC100972936 olfactory receptor 2T1 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1353113 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11899971 LOC100972936 olfactory receptor 2T1 gene DOID:10283 prostate cancer ISO RGD:1353113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11899971 LOC100972936 olfactory receptor 2T1 gene DOID:1540 parathyroid carcinoma ISO RGD:1353113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11899971 LOC100972936 olfactory receptor 2T1 gene DOID:630 genetic disease ISO RGD:1353113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899971 LOC100972936 olfactory receptor 2T1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11899971 LOC100972936 olfactory receptor 2T1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11899974 SPESP1 sperm equatorial segment protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1349587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11899974 SPESP1 sperm equatorial segment protein 1 gene DOID:630 genetic disease ISO RGD:1349587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899974 SPESP1 sperm equatorial segment protein 1 gene DOID:9256 colorectal cancer ISO RGD:1349587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11899980 GFY golgi associated olfactory signaling regulator gene DOID:630 genetic disease ISO RGD:7818825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11899995 VWC2 von Willebrand factor C domain containing 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11899995 VWC2 von Willebrand factor C domain containing 2 gene DOID:630 genetic disease ISO RGD:1603838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900021 COL4A2 collagen type IV alpha 2 chain gene DOID:0060263 porencephaly ISO RGD:1317652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY PMID:25741868|PMID:26467025|PMID:28492532 11900021 COL4A2 collagen type IV alpha 2 chain gene DOID:0090125 brain small vessel disease 1 ISO RGD:1317652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GOULD SYNDROME 1 PMID:25741868|PMID:26467025|PMID:28492532 11900021 COL4A2 collagen type IV alpha 2 chain gene DOID:0112314 brain small vessel disease 2 ISO RGD:1317652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Porencephaly 2 PMID:16199547|PMID:22209246|PMID:22209247|PMID:22333902|PMID:22914737|PMID:24001601|PMID:24390199|PMID:24646874|PMID:25326635|PMID:25653287|PMID:25741868|PMID:27794444|PMID:28492532|PMID:30315939|PMID:30413629|PMID:30859180|PMID:31069529|PMID:32732225|PMID:33527515|PMID:33912663|PMID:34531397 11900021 COL4A2 collagen type IV alpha 2 chain gene DOID:0112314 brain small vessel disease 2 susceptibility ISO RGD:1317652 D RGD:7240710 20230517 OMIM 11900021 COL4A2 collagen type IV alpha 2 chain gene DOID:1184 nephrotic syndrome ISO RGD:1317652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1281619 11900021 COL4A2 collagen type IV alpha 2 chain gene DOID:1826 epilepsy ISO RGD:1317652 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11900021 COL4A2 collagen type IV alpha 2 chain gene DOID:1936 atherosclerosis susceptibility ISO RGD:1317652 D RGD:9068941 20200609 RGD DNA:SNP: :rs72657934(human) PMID:28642624|REF_RGD_ID:13450936 11900021 COL4A2 collagen type IV alpha 2 chain gene DOID:1969 cerebral palsy ISO RGD:1317652 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:22209246|PMID:22209247|PMID:22333902|PMID:24001601|PMID:25741868|PMID:27794444|PMID:28492532|PMID:33912663|PMID:34531397 11900021 COL4A2 collagen type IV alpha 2 chain gene DOID:2222 factor X deficiency ISO RGD:1317652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 11900021 COL4A2 collagen type IV alpha 2 chain gene DOID:2661 myoepithelioma ISO RGD:1317652 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11900021 COL4A2 collagen type IV alpha 2 chain gene DOID:5409 lung small cell carcinoma ISO RGD:1317652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 11900021 COL4A2 collagen type IV alpha 2 chain gene DOID:630 genetic disease ISO RGD:1317652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:22333902|PMID:25741868|PMID:28492532|PMID:30315939|PMID:30413629 11900021 COL4A2 collagen type IV alpha 2 chain gene DOID:865 vasculitis ISO RGD:1317652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vasculitis PMID:25741868 11900021 COL4A2 collagen type IV alpha 2 chain gene DOID:8725 vascular dementia ISO RGD:1317652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:33268848 11900021 COL4A2 collagen type IV alpha 2 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11900021 COL4A2 collagen type IV alpha 2 chain gene DOID:9001585 Intraventricular Hemorrhage ISO RGD:1317652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intraventricular hemorrhage PMID:25741868|PMID:33527515 11900021 COL4A2 collagen type IV alpha 2 chain gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1317652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intracerebral hemorrhage PMID:22209247|PMID:22914737|PMID:24390199|PMID:24646874|PMID:25653287|PMID:25741868|PMID:28492532 11900021 COL4A2 collagen type IV alpha 2 chain gene DOID:9002676 Cerebral Hemorrhage susceptibility ISO RGD:1317652 D RGD:7240710 20230517 OMIM 11900021 COL4A2 collagen type IV alpha 2 chain gene DOID:9002788 Lacunar Strokes susceptibility ISO RGD:1317652 D RGD:9068941 20200609 RGD DNA:SNPs:: PMID:28954878|REF_RGD_ID:13450933 11900021 COL4A2 collagen type IV alpha 2 chain gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1317652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11900021 COL4A2 collagen type IV alpha 2 chain gene DOID:9003529 Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps ISO RGD:1317652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps PMID:25741868|PMID:26467025|PMID:28492532 11900021 COL4A2 collagen type IV alpha 2 chain gene DOID:9005077 Joint Instability ISO RGD:1317652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:25741868 11900021 COL4A2 collagen type IV alpha 2 chain gene DOID:9007096 Stroke ISO RGD:1317652 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11900073 TSPAN8 tetraspanin 8 gene DOID:11394 adult respiratory distress syndrome ISO RGD:736010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 11900073 TSPAN8 tetraspanin 8 gene DOID:3007 breast ductal carcinoma ISO RGD:736010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 11900073 TSPAN8 tetraspanin 8 gene DOID:630 genetic disease ISO RGD:736010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900073 TSPAN8 tetraspanin 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11900086 GRPEL1 GrpE like 1, mitochondrial gene DOID:3525 middle cerebral artery infarction ISO RGD:70947 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:12505684|REF_RGD_ID:632868 11900086 GRPEL1 GrpE like 1, mitochondrial gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1345534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11900086 GRPEL1 GrpE like 1, mitochondrial gene DOID:630 genetic disease ISO RGD:1345534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900094 SLC30A2 solute carrier family 30 member 2 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:733874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 11900094 SLC30A2 solute carrier family 30 member 2 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:733874 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 11900094 SLC30A2 solute carrier family 30 member 2 gene DOID:10283 prostate cancer ISO RGD:733874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11900094 SLC30A2 solute carrier family 30 member 2 gene DOID:630 genetic disease ISO RGD:733874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900094 SLC30A2 solute carrier family 30 member 2 gene DOID:9003336 Neonatal Zinc Deficiency due to Low Breast Milk Zinc ISO RGD:733874 D RGD:7240710 20180130 OMIM 11900094 SLC30A2 solute carrier family 30 member 2 gene DOID:9003336 Neonatal Zinc Deficiency due to Low Breast Milk Zinc ISO RGD:733874 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Zinc deficiency, transient neonatal PMID:17065149|PMID:22733820|PMID:24456035|PMID:25741868|PMID:28665435 11900106 FGFRL1 fibroblast growth factor receptor like 1 gene DOID:0050460 Wolf-Hirschhorn syndrome ISO RGD:1354107 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome PMID:25741868|PMID:28492532 11900106 FGFRL1 fibroblast growth factor receptor like 1 gene DOID:0080600 COVID-19 ISO RGD:1354107 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11900106 FGFRL1 fibroblast growth factor receptor like 1 gene DOID:10907 microcephaly ISO RGD:1354107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11900106 FGFRL1 fibroblast growth factor receptor like 1 gene DOID:1856 cherubism ISO RGD:1354107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11900106 FGFRL1 fibroblast growth factor receptor like 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1354107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia PMID:25741868|PMID:28492532|PMID:33443296 11900106 FGFRL1 fibroblast growth factor receptor like 1 gene DOID:630 genetic disease ISO RGD:1354107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11900106 FGFRL1 fibroblast growth factor receptor like 1 gene DOID:9001308 Wittwer Syndrome ISO RGD:1354107 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wittwer syndrome PMID:25741868|PMID:28492532 11900106 FGFRL1 fibroblast growth factor receptor like 1 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1354107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:28492532|PMID:34113002 11900106 FGFRL1 fibroblast growth factor receptor like 1 gene DOID:9006836 Contracture ISO RGD:1354107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 11900117 ACE angiotensin I converting enzyme gene DOID:0050152 aspiration pneumonia ISO RGD:737323 D RGD:9068941 20200611 RGD associated with Cerebrovascular Accident PMID:14990394|REF_RGD_ID:4140926 11900117 ACE angiotensin I converting enzyme gene DOID:0050848 obstructive sleep apnea ISO RGD:2493 D RGD:9068941 20200611 RGD mRNA:increased expression:cardiac atrium PMID:24775918|REF_RGD_ID:11039043 11900117 ACE angiotensin I converting enzyme gene DOID:0050848 obstructive sleep apnea severity ISO RGD:737323 D RGD:9068941 20200611 RGD associated with Hypertension;DNA:polymorphism (human) PMID:19482546|REF_RGD_ID:4140917 11900117 ACE angiotensin I converting enzyme gene DOID:0050848 obstructive sleep apnea susceptibility ISO RGD:737323 D RGD:9068941 20200611 RGD DNA:polymorphism (human) PMID:20182789|REF_RGD_ID:4140915 11900117 ACE angiotensin I converting enzyme gene DOID:0050851 glomerulosclerosis treatment ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:21718676|REF_RGD_ID:12879389 11900117 ACE angiotensin I converting enzyme gene DOID:0050855 renal fibrosis ISO RGD:737323 D RGD:9068941 20200611 RGD protein:decreased expression:renal medulla, renal cortex, brush border epithelial cell (human) PMID:10504496|REF_RGD_ID:8158033 11900117 ACE angiotensin I converting enzyme gene DOID:0050855 renal fibrosis treatment ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:10644663|REF_RGD_ID:12879403 11900117 ACE angiotensin I converting enzyme gene DOID:0050864 non-arteritic anterior ischemic optic neuropathy onset ISO RGD:737323 D RGD:9068941 20200611 RGD DNA:insertion/deletion:intron PMID:21633717|REF_RGD_ID:8548899 11900117 ACE angiotensin I converting enzyme gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:2493 D RGD:9068941 20200611 RGD associated with Colonic Neoplasms PMID:24959250|REF_RGD_ID:11039027 11900117 ACE angiotensin I converting enzyme gene DOID:0060186 chemical colitis ISO RGD:10468 D RGD:9068941 20201029 RGD protein:increased expression:small intestine, large intestine:extracellular space (mouse) PMID:26401072|REF_RGD_ID:11555935 11900117 ACE angiotensin I converting enzyme gene DOID:0060224 atrial fibrillation ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:15331425 11900117 ACE angiotensin I converting enzyme gene DOID:0060224 atrial fibrillation susceptibility ISO RGD:737323 D RGD:9068941 20200611 RGD DNA:deletion:intron:IVS16+1464-1751del (human) PMID:19648063|PMID:23170137|REF_RGD_ID:7829797|REF_RGD_ID:8142351 11900117 ACE angiotensin I converting enzyme gene DOID:0060500 drug allergy ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:18727619 11900117 ACE angiotensin I converting enzyme gene DOID:0080205 CAKUT ISO RGD:737323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:34906502 11900117 ACE angiotensin I converting enzyme gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 11900117 ACE angiotensin I converting enzyme gene DOID:0080599 Coronavirus infectious disease ISO RGD:737323 D RGD:9068941 20200611 RGD Severe Acute Respiratory Syndrome PMID:17108019|REF_RGD_ID:4140930 11900117 ACE angiotensin I converting enzyme gene DOID:0080600 COVID-19 no_association ISO RGD:737323 D RGD:9068941 20200618 RGD DNA:insertion/deletion:intron 16: PMID:32386188|REF_RGD_ID:30309201 11900117 ACE angiotensin I converting enzyme gene DOID:0080600 COVID-19 severity ISO RGD:737323 D RGD:9068941 20200618 RGD DNA:insertion/deletion:intron 16: PMID:32286246|REF_RGD_ID:30309199 11900117 ACE angiotensin I converting enzyme gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:20229187|REF_RGD_ID:2325220 11900117 ACE angiotensin I converting enzyme gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:2493 D RGD:9068941 20200611 RGD mRNA:increased expression:kidney (rat) PMID:20798958|REF_RGD_ID:12879406 11900117 ACE angiotensin I converting enzyme gene DOID:0111128 focal segmental glomerulosclerosis 1 treatment ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:8505110|REF_RGD_ID:12880006 11900117 ACE angiotensin I converting enzyme gene DOID:0111682 diffuse cystic renal dysplasia ISO RGD:737323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal dysplasia, cystic, susceptibility to PMID:25741868|PMID:35005812 11900117 ACE angiotensin I converting enzyme gene DOID:10322 berylliosis ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:10194187 11900117 ACE angiotensin I converting enzyme gene DOID:10533 viral pneumonia ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:15381116 11900117 ACE angiotensin I converting enzyme gene DOID:10534 stomach cancer susceptibility ISO RGD:737323 D RGD:9068941 20201029 RGD DNA:insertion/deletion, haplotype:intron 16: PMID:17035401|REF_RGD_ID:39939122 11900117 ACE angiotensin I converting enzyme gene DOID:10591 pre-eclampsia ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:17114810 11900117 ACE angiotensin I converting enzyme gene DOID:10591 pre-eclampsia onset ISO RGD:737323 D RGD:9068941 20201105 RGD DNA:insertion/deletion:intron 16: PMID:20044877|REF_RGD_ID:40400703 11900117 ACE angiotensin I converting enzyme gene DOID:10608 celiac disease ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 11900117 ACE angiotensin I converting enzyme gene DOID:10652 Alzheimer's disease ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:19080340|REF_RGD_ID:2325232 11900117 ACE angiotensin I converting enzyme gene DOID:10652 Alzheimer's disease ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:10643899|PMID:14872014|PMID:17192785|PMID:30820047|PMID:9916793 11900117 ACE angiotensin I converting enzyme gene DOID:1074 kidney failure ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:9259580 11900117 ACE angiotensin I converting enzyme gene DOID:10763 hypertension ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:17392119|REF_RGD_ID:1601113 11900117 ACE angiotensin I converting enzyme gene DOID:10763 hypertension ISO RGD:2493 D RGD:9068941 20200611 RGD protein:increased activity:lung (rat) PMID:16203874|REF_RGD_ID:1581743 11900117 ACE angiotensin I converting enzyme gene DOID:10763 hypertension ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:15773232|PMID:17473847|PMID:20237592|PMID:27847271 11900117 ACE angiotensin I converting enzyme gene DOID:10763 hypertension susceptibility ISO RGD:737323 D RGD:9068941 20200611 RGD DNA:polymorphism PMID:17283861|REF_RGD_ID:1601114 11900117 ACE angiotensin I converting enzyme gene DOID:10763 hypertension treatment ISO RGD:10468 D RGD:9068941 20201105 RGD PMID:27325568|REF_RGD_ID:40400899 11900117 ACE angiotensin I converting enzyme gene DOID:10763 hypertension treatment ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:24342267|PMID:3006710|REF_RGD_ID:11039415|REF_RGD_ID:8157611 11900117 ACE angiotensin I converting enzyme gene DOID:10907 microcephaly ISO RGD:737323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11900117 ACE angiotensin I converting enzyme gene DOID:10952 nephritis susceptibility ISO RGD:737323 D RGD:9068941 20200611 RGD associated with Purpura, Schoenlein-Henoch;DNA:polymorphisms,haplotype: :-240A>T,2350A>G (human) PMID:22895845|REF_RGD_ID:11533935 11900117 ACE angiotensin I converting enzyme gene DOID:11123 Henoch-Schoenlein purpura disease_progression ISO RGD:737323 D RGD:9068941 20200611 RGD DNA:deletion:intron:IVS16+1464-1751del (human) PMID:15315169|REF_RGD_ID:11038920 11900117 ACE angiotensin I converting enzyme gene DOID:11335 sarcoidosis ISO RGD:737323 D RGD:9068941 20201105 RGD DNA:SNP, insertion/deletion, repeat:enhancer, intron 16, 3' utr: PMID:11168787|REF_RGD_ID:40400746 11900117 ACE angiotensin I converting enzyme gene DOID:11335 sarcoidosis ISO RGD:737323 D RGD:9068941 20201105 RGD protein:increased activity:serum (human) PMID:183595|REF_RGD_ID:40400721 11900117 ACE angiotensin I converting enzyme gene DOID:11335 sarcoidosis disease_progression ISO RGD:737323 D RGD:9068941 20200611 RGD PMID:6287584|REF_RGD_ID:11039025 11900117 ACE angiotensin I converting enzyme gene DOID:11335 sarcoidosis severity ISO RGD:737323 D RGD:9068941 20201105 RGD DNA:SNP:enhancer: PMID:29229112|REF_RGD_ID:40400908 11900117 ACE angiotensin I converting enzyme gene DOID:11335 sarcoidosis severity ISO RGD:737323 D RGD:9068941 20201105 RGD DNA:insertion/deletion:intron 16: PMID:18496980|REF_RGD_ID:40400722 11900117 ACE angiotensin I converting enzyme gene DOID:11394 adult respiratory distress syndrome ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:12204859|PMID:22009550 11900117 ACE angiotensin I converting enzyme gene DOID:11400 pyelonephritis ISO RGD:737323 D RGD:9068941 20200611 RGD protein:decreased expression:kidney, brush border epithelial cell (human) PMID:10504496|REF_RGD_ID:8158033 11900117 ACE angiotensin I converting enzyme gene DOID:11476 osteoporosis ISO RGD:2493 D RGD:9068941 20200611 RGD associated with Hypertension PMID:19590507|REF_RGD_ID:2325225 11900117 ACE angiotensin I converting enzyme gene DOID:11713 diabetic angiopathy ISO RGD:737323 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 3 PMID:10099885|PMID:10636736|PMID:10643899|PMID:10841123|PMID:11687636|PMID:11956052|PMID:12220450|PMID:12666117|PMID:1313972|PMID:1319114|PMID:1328889|PMID:1386652|PMID:14657821|PMID:14872014|PMID:15110771|PMID:15277638|PMID:15381116|PMID:15531537|PMID:15534175|PMID:15635071|PMID:19221299|PMID:1976655|PMID:20093180|PMID:21471972|PMID:22095942|PMID:24163131|PMID:25741868|PMID:2847529|PMID:2849100|PMID:28492532|PMID:7593601|PMID:7729604|PMID:7783416|PMID:7854377|PMID:7909524|PMID:8131299|PMID:8131300|PMID:8136829|PMID:8170965|PMID:8208911|PMID:8298638|PMID:8314010|PMID:8541160|PMID:8644984|PMID:8675669|PMID:9120002|PMID:9236417|PMID:9259580|PMID:9699903|PMID:9737775|PMID:9916793 11900117 ACE angiotensin I converting enzyme gene DOID:1184 nephrotic syndrome ISO RGD:2493 D RGD:9068941 20200611 RGD protein:increased activity:multiple PMID:2175683|REF_RGD_ID:11038913 11900117 ACE angiotensin I converting enzyme gene DOID:1184 nephrotic syndrome treatment ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:15942045|REF_RGD_ID:1598707 11900117 ACE angiotensin I converting enzyme gene DOID:11984 hypertrophic cardiomyopathy no_association ISO RGD:737323 D RGD:9068941 20200611 RGD DNA:insertion/deletion:intron PMID:9270088|REF_RGD_ID:1566491 11900117 ACE angiotensin I converting enzyme gene DOID:1205 allergic disease susceptibility ISO RGD:737323 D RGD:9068941 20200611 RGD DNA:deletion:intron:IVS16+1464-1751del (human) PMID:10200023|REF_RGD_ID:8142344 11900117 ACE angiotensin I converting enzyme gene DOID:12236 primary biliary cholangitis ISO RGD:2493 D RGD:9068941 20200611 RGD mRNA:increased expression:liver PMID:19389807|REF_RGD_ID:2325226 11900117 ACE angiotensin I converting enzyme gene DOID:12336 male infertility ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:12075344|PMID:8642790 11900117 ACE angiotensin I converting enzyme gene DOID:12365 malaria severity ISO RGD:10468 D RGD:9068941 20201029 RGD PMID:31234939|REF_RGD_ID:39939120 11900117 ACE angiotensin I converting enzyme gene DOID:1240 leukemia disease_progression ISO RGD:737323 D RGD:9068941 20200611 RGD DNA:deletion:intron:IVS16+1464-1751del (human) PMID:12781647|REF_RGD_ID:11039000 11900117 ACE angiotensin I converting enzyme gene DOID:12549 hepatitis A ISO RGD:737323 D RGD:9068941 20201029 RGD DNA:insertion/deletion:intron 16: PMID:12458570|REF_RGD_ID:39939119 11900117 ACE angiotensin I converting enzyme gene DOID:12849 autistic disorder ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:27082637 11900117 ACE angiotensin I converting enzyme gene DOID:1287 cardiovascular system disease ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:11498459|PMID:14657821|PMID:16544732 11900117 ACE angiotensin I converting enzyme gene DOID:12930 dilated cardiomyopathy no_association ISO RGD:737323 D RGD:9068941 20200611 RGD DNA:insertion/deletion:intron PMID:9270088|REF_RGD_ID:1566491 11900117 ACE angiotensin I converting enzyme gene DOID:12932 endomyocardial fibrosis ISO RGD:2493 D RGD:9068941 20200611 RGD protein:increased activity:lung, heart left ventricle, plasma (rat) PMID:12131554|REF_RGD_ID:8157600 11900117 ACE angiotensin I converting enzyme gene DOID:12986 leukostasis ISO RGD:2493 D RGD:9068941 20200611 RGD associated with Diabetes Mellitus, Experimental PMID:16822509|REF_RGD_ID:11039403 11900117 ACE angiotensin I converting enzyme gene DOID:13141 uveitis ISO RGD:737323 D RGD:9068941 20200611 RGD Chronic Granulomatous Uveitis;protein:increased expression:serum (human) PMID:229083|REF_RGD_ID:8142348 11900117 ACE angiotensin I converting enzyme gene DOID:1324 lung cancer susceptibility ISO RGD:737323 D RGD:9068941 20200611 RGD DNA:polymorphism (human) PMID:20303010|REF_RGD_ID:4140486 11900117 ACE angiotensin I converting enzyme gene DOID:13241 Behcet's disease no_association ISO RGD:737323 D RGD:9068941 20200611 RGD DNA:deletion:intron:IVS16+1464-1751del (human) PMID:15045629|REF_RGD_ID:8142349 11900117 ACE angiotensin I converting enzyme gene DOID:13241 Behcet's disease susceptibility ISO RGD:737323 D RGD:9068941 20200611 RGD DNA:deletion:intron:IVS16+1464-1751del (human) PMID:15961928|REF_RGD_ID:7829810 11900117 ACE angiotensin I converting enzyme gene DOID:13580 cholestasis ISO RGD:2493 D RGD:9068941 20200611 RGD mRNA:increased expression:liver (rat) PMID:30458228|REF_RGD_ID:25671450 11900117 ACE angiotensin I converting enzyme gene DOID:14115 toxic shock syndrome severity ISO RGD:737323 D RGD:9068941 20201029 RGD DNA:SNP, insertion/deletion:promoter, intron: (rs4291, rs4646994) PMID:28336767|REF_RGD_ID:39939121 11900117 ACE angiotensin I converting enzyme gene DOID:14499 Fabry disease treatment ISO RGD:737323 D RGD:9068941 20200611 RGD PMID:20941593|REF_RGD_ID:12879402 11900117 ACE angiotensin I converting enzyme gene DOID:1579 respiratory system disease ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:14657821 11900117 ACE angiotensin I converting enzyme gene DOID:1591 renovascular hypertension ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:22342460|REF_RGD_ID:6893471 11900117 ACE angiotensin I converting enzyme gene DOID:1591 renovascular hypertension treatment ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:20630208|REF_RGD_ID:8157609 11900117 ACE angiotensin I converting enzyme gene DOID:1612 breast cancer susceptibility ISO RGD:737323 D RGD:9068941 20200611 RGD DNA:insertion/deletion, haplotype PMID:23828384|REF_RGD_ID:8548866 11900117 ACE angiotensin I converting enzyme gene DOID:1793 pancreatic cancer ISO RGD:10468 D RGD:9068941 20200611 RGD PMID:19880966|REF_RGD_ID:2325208 11900117 ACE angiotensin I converting enzyme gene DOID:1926 Gaucher's disease ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:12359135 11900117 ACE angiotensin I converting enzyme gene DOID:2316 brain ischemia ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:15534175 11900117 ACE angiotensin I converting enzyme gene DOID:2355 anemia ISO RGD:737323 D RGD:9068941 20200611 RGD PMID:23141116|REF_RGD_ID:11038919 11900117 ACE angiotensin I converting enzyme gene DOID:2355 anemia ISO RGD:737323 D RGD:9068941 20200611 RGD associated with Carcinoma, Non-Small-Cell Lung;DNA:deletion:intron:IVS16+1464-1751del (human) PMID:18156303|REF_RGD_ID:11038916 11900117 ACE angiotensin I converting enzyme gene DOID:2527 nephrosis ISO RGD:2493 D RGD:9068941 20200611 RGD protein:increased activity:multiple (rats) PMID:8303709|REF_RGD_ID:8157608 11900117 ACE angiotensin I converting enzyme gene DOID:2527 nephrosis treatment ISO RGD:2493 D RGD:9068941 20200611 RGD Adriamycin Nephrosis PMID:8665777|REF_RGD_ID:12879388 11900117 ACE angiotensin I converting enzyme gene DOID:2746 glycogen storage disease V ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:12666117 11900117 ACE angiotensin I converting enzyme gene DOID:2799 bronchiolitis obliterans ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:17097496|REF_RGD_ID:4140933 11900117 ACE angiotensin I converting enzyme gene DOID:2841 asthma susceptibility ISO RGD:737323 D RGD:9068941 20200611 RGD DNA:polymorphism (human) PMID:19383228|PMID:19484664|REF_RGD_ID:4140913|REF_RGD_ID:4140919 11900117 ACE angiotensin I converting enzyme gene DOID:2921 glomerulonephritis ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:19164508|REF_RGD_ID:2325229 11900117 ACE angiotensin I converting enzyme gene DOID:2945 severe acute respiratory syndrome ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:15381116 11900117 ACE angiotensin I converting enzyme gene DOID:2986 IgA glomerulonephritis ISO RGD:737323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Susceptibility to progression to renal failure in IgA nephropathy PMID:10099885|PMID:10636736|PMID:10643899|PMID:10841123|PMID:11687636|PMID:11956052|PMID:12220450|PMID:12666117|PMID:1313972|PMID:1319114|PMID:1328889|PMID:1386652|PMID:14657821|PMID:14872014|PMID:15110771|PMID:15277638|PMID:15381116|PMID:15531537|PMID:15534175|PMID:15635071|PMID:19221299|PMID:1976655|PMID:2847529|PMID:2849100|PMID:7593601|PMID:7729604|PMID:7783416|PMID:7854377|PMID:7909524|PMID:8131299|PMID:8131300|PMID:8136829|PMID:8170965|PMID:8208911|PMID:8298638|PMID:8314010|PMID:8541160|PMID:8644984|PMID:8675669|PMID:9120002|PMID:9236417|PMID:9259580|PMID:9699903|PMID:9737775|PMID:9916793 11900117 ACE angiotensin I converting enzyme gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:737323 D RGD:9068941 20200611 RGD DNA:polymorphism:intron: PMID:12220450|REF_RGD_ID:7257515 11900117 ACE angiotensin I converting enzyme gene DOID:2987 familial Mediterranean fever susceptibility ISO RGD:737323 D RGD:9068941 20201105 RGD DNA:insertion/deletion:intron 16: PMID:24680475|REF_RGD_ID:40400709 11900117 ACE angiotensin I converting enzyme gene DOID:299 adenocarcinoma ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 11900117 ACE angiotensin I converting enzyme gene DOID:3021 acute kidney failure treatment ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:24502693|REF_RGD_ID:11039053 11900117 ACE angiotensin I converting enzyme gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737323 D RGD:9068941 20200611 RGD PMID:20096799|REF_RGD_ID:4140487 11900117 ACE angiotensin I converting enzyme gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:737323 D RGD:9068941 20200611 RGD PMID:19493329|REF_RGD_ID:4140912 11900117 ACE angiotensin I converting enzyme gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:737323 D RGD:9068941 20200611 RGD DNA:polymorphism (human) PMID:20156752|REF_RGD_ID:4140480 11900117 ACE angiotensin I converting enzyme gene DOID:3393 coronary artery disease ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:14989558 11900117 ACE angiotensin I converting enzyme gene DOID:3393 coronary artery disease susceptibility ISO RGD:737323 D RGD:9068941 20200611 RGD DNA:deletion:intron:IVS16+1464-1751del (human) PMID:12975417|REF_RGD_ID:1566498 11900117 ACE angiotensin I converting enzyme gene DOID:3500 gallbladder adenocarcinoma ISO RGD:737323 D RGD:9068941 20200611 RGD DNA:polymorphism: :rs4646994 (human) PMID:20438364|REF_RGD_ID:2325207 11900117 ACE angiotensin I converting enzyme gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:24471927|REF_RGD_ID:11039026 11900117 ACE angiotensin I converting enzyme gene DOID:3526 cerebral infarction ISO RGD:737323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ischemic stroke, susceptibility to PMID:10099885|PMID:10636736|PMID:10643899|PMID:10841123|PMID:11687636|PMID:11956052|PMID:12220450|PMID:12666117|PMID:1313972|PMID:1319114|PMID:1328889|PMID:1386652|PMID:14657821|PMID:14872014|PMID:15110771|PMID:15277638|PMID:15381116|PMID:15531537|PMID:15534175|PMID:15635071|PMID:19221299|PMID:1976655|PMID:2847529|PMID:2849100|PMID:7593601|PMID:7729604|PMID:7783416|PMID:7854377|PMID:7909524|PMID:8131299|PMID:8131300|PMID:8136829|PMID:8170965|PMID:8208911|PMID:8298638|PMID:8314010|PMID:8541160|PMID:8644984|PMID:8675669|PMID:9120002|PMID:9236417|PMID:9259580|PMID:9699903|PMID:9737775|PMID:9916793 11900117 ACE angiotensin I converting enzyme gene DOID:3587 pancreatic ductal carcinoma ISO RGD:737323 D RGD:9068941 20200611 RGD mRNA, protein:increased expression:pancreas PMID:17481528|REF_RGD_ID:2325211 11900117 ACE angiotensin I converting enzyme gene DOID:3770 pulmonary fibrosis ISO RGD:10468 D RGD:9068941 20200611 RGD associated with Lung Injury PMID:20651228|REF_RGD_ID:4140478 11900117 ACE angiotensin I converting enzyme gene DOID:3770 pulmonary fibrosis ISO RGD:2493 D RGD:9068941 20200611 RGD associated with Hypertension PMID:17506718|REF_RGD_ID:4140923 11900117 ACE angiotensin I converting enzyme gene DOID:3770 pulmonary fibrosis ISO RGD:2493 D RGD:9068941 20200611 RGD associated with Lung Injury;protein:decreased expression:lung PMID:20581171|REF_RGD_ID:4140483 11900117 ACE angiotensin I converting enzyme gene DOID:3770 pulmonary fibrosis ISO RGD:2493 D RGD:9068941 20200611 RGD associated with Radiation Pneumonitis PMID:17506716|REF_RGD_ID:4140925 11900117 ACE angiotensin I converting enzyme gene DOID:3770 pulmonary fibrosis ISO RGD:737323 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:33007385 11900117 ACE angiotensin I converting enzyme gene DOID:3827 congenital diaphragmatic hernia ISO RGD:2493 D RGD:9068941 20200611 RGD protein:increased activity:lung (rat) PMID:9498404|REF_RGD_ID:12859277 11900117 ACE angiotensin I converting enzyme gene DOID:3905 lung carcinoma ISO RGD:737323 D RGD:9068941 20201105 RGD protein:decreased activity:serum (human) PMID:183595|REF_RGD_ID:40400721 11900117 ACE angiotensin I converting enzyme gene DOID:4079 heart valve disease susceptibility ISO RGD:737323 D RGD:9068941 20201105 RGD associated with rheumatic fever;DNA:insertion/deletion:intron 16: PMID:12578328|REF_RGD_ID:40400707 11900117 ACE angiotensin I converting enzyme gene DOID:418 systemic scleroderma ISO RGD:737323 D RGD:9068941 20200611 RGD protein:decreased expression:plasma PMID:17360781|REF_RGD_ID:8548889 11900117 ACE angiotensin I converting enzyme gene DOID:4247 coronary restenosis ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:9236417 11900117 ACE angiotensin I converting enzyme gene DOID:4481 allergic rhinitis no_association ISO RGD:737323 D RGD:9068941 20200611 RGD DNA:deletion:intron:IVS16+1464-1751del (human) PMID:15112973|REF_RGD_ID:8142345 11900117 ACE angiotensin I converting enzyme gene DOID:5082 liver cirrhosis ISO RGD:737323 D RGD:9068941 20201105 RGD associated with Chronic Hepatitis B;protein:increased expression:blood serum (human) PMID:29085215|REF_RGD_ID:40400898 11900117 ACE angiotensin I converting enzyme gene DOID:5082 liver cirrhosis no_association ISO RGD:737323 D RGD:9068941 20201029 RGD associated with liver disease;DNA:insertion/deletion: PMID:26681055|REF_RGD_ID:11537135 11900117 ACE angiotensin I converting enzyme gene DOID:5082 liver cirrhosis severity ISO RGD:737323 D RGD:9068941 20201029 RGD associated with hepatitis C;DNA:insertion/deletion: PMID:19456900|REF_RGD_ID:39939123 11900117 ACE angiotensin I converting enzyme gene DOID:5082 liver cirrhosis treatment ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:28822808|PMID:29335866|REF_RGD_ID:25671453|REF_RGD_ID:25671454 11900117 ACE angiotensin I converting enzyme gene DOID:5199 ureteral obstruction treatment ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:21667191|REF_RGD_ID:12880020 11900117 ACE angiotensin I converting enzyme gene DOID:5419 schizophrenia ISO RGD:737323 D RGD:9068941 20201029 RGD protein:decreased activity:plasma (human) PMID:26296754|REF_RGD_ID:11353163 11900117 ACE angiotensin I converting enzyme gene DOID:552 pneumonia ISO RGD:737323 D RGD:9068941 20200611 RGD PMID:17727310|REF_RGD_ID:4140922 11900117 ACE angiotensin I converting enzyme gene DOID:552 pneumonia ISO RGD:737323 D RGD:9068941 20200611 RGD associated with Hypertension PMID:20051911|REF_RGD_ID:4140916 11900117 ACE angiotensin I converting enzyme gene DOID:552 pneumonia disease_progression ISO RGD:737323 D RGD:9068941 20200611 RGD PMID:19455553|REF_RGD_ID:4140918 11900117 ACE angiotensin I converting enzyme gene DOID:557 kidney disease ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:8642790 11900117 ACE angiotensin I converting enzyme gene DOID:576 proteinuria severity ISO RGD:737323 D RGD:9068941 20200611 RGD associated with Henoch-Schoenlein purpura;DNA:deletion:intron:IVS16+1464- 1751del (human) PMID:10193250|REF_RGD_ID:11038828 11900117 ACE angiotensin I converting enzyme gene DOID:576 proteinuria treatment ISO RGD:2493 D RGD:9068941 20200611 RGD associated with Acute Kidney Injury PMID:10844603|REF_RGD_ID:12879396 11900117 ACE angiotensin I converting enzyme gene DOID:5844 myocardial infarction ISO RGD:737323 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:10099885|PMID:10636736|PMID:10643899|PMID:10841123|PMID:11687636|PMID:11956052|PMID:12220450|PMID:12666117|PMID:1313972|PMID:1319114|PMID:1328889|PMID:1386652|PMID:14657821|PMID:14872014|PMID:15110771|PMID:15277638|PMID:15381116|PMID:15531537|PMID:15534175|PMID:15635071|PMID:19221299|PMID:1976655|PMID:25741868|PMID:2847529|PMID:2849100|PMID:28492532|PMID:7593601|PMID:7729604|PMID:7783416|PMID:7854377|PMID:7909524|PMID:8131299|PMID:8131300|PMID:8136829|PMID:8170965|PMID:8208911|PMID:8298638|PMID:8314010|PMID:8541160|PMID:8644984|PMID:8675669|PMID:9120002|PMID:9236417|PMID:9259580|PMID:9699903|PMID:9737775|PMID:9916793 11900117 ACE angiotensin I converting enzyme gene DOID:5844 myocardial infarction susceptibility ISO RGD:737323 D RGD:9068941 20200611 RGD associated with Diabetes Mellitus, Type 1;DNA:deletion:intron:IVS16+1464-1751del (human) PMID:7555560|REF_RGD_ID:7829785 11900117 ACE angiotensin I converting enzyme gene DOID:5844 myocardial infarction treatment ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:15671045|PMID:23959549|REF_RGD_ID:1558664|REF_RGD_ID:9685449 11900117 ACE angiotensin I converting enzyme gene DOID:6000 congestive heart failure ISO RGD:2493 D RGD:9068941 20200611 RGD associated with Hypertension PMID:22123369|REF_RGD_ID:6893472 11900117 ACE angiotensin I converting enzyme gene DOID:6000 congestive heart failure ISO RGD:2493 D RGD:9068941 20200611 RGD associated with Myocardial Infarction PMID:19620082|REF_RGD_ID:2325224 11900117 ACE angiotensin I converting enzyme gene DOID:6000 congestive heart failure ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:18586661 11900117 ACE angiotensin I converting enzyme gene DOID:6000 congestive heart failure treatment ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:15894569|REF_RGD_ID:12859272 11900117 ACE angiotensin I converting enzyme gene DOID:61 mitral valve disease susceptibility ISO RGD:737323 D RGD:9068941 20201105 RGD DNA:insertion/deletion:intron 16: PMID:14765837|REF_RGD_ID:40400724 11900117 ACE angiotensin I converting enzyme gene DOID:630 genetic disease ISO RGD:737323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11900117 ACE angiotensin I converting enzyme gene DOID:6432 pulmonary hypertension ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:12359135 11900117 ACE angiotensin I converting enzyme gene DOID:684 hepatocellular carcinoma ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: therapeutic PMID:16328049 11900117 ACE angiotensin I converting enzyme gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:737323 D RGD:9068941 20201105 RGD DNA:insertion/deletion:intron 16: PMID:25208933|REF_RGD_ID:11343535 11900117 ACE angiotensin I converting enzyme gene DOID:7147 ankylosing spondylitis susceptibility ISO RGD:737323 D RGD:9068941 20200611 RGD DNA:deletion:intron:IVS16+1464-1751del (human) PMID:22876137|REF_RGD_ID:7829800 11900117 ACE angiotensin I converting enzyme gene DOID:7693 abdominal aortic aneurysm treatment ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:24602481|REF_RGD_ID:11039028 11900117 ACE angiotensin I converting enzyme gene DOID:783 end stage renal disease ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:10099885|PMID:7593601 11900117 ACE angiotensin I converting enzyme gene DOID:783 end stage renal disease ISO RGD:737323 D RGD:9068941 20200611 RGD associated with Vesico-Ureteral Reflux;DNA:deletion PMID:20149750|REF_RGD_ID:6903283 11900117 ACE angiotensin I converting enzyme gene DOID:783 end stage renal disease susceptibility ISO RGD:737323 D RGD:9068941 20200611 RGD associated with Diabetes Mellitus, Type 2;DNA:deletion:intron:IVS16+1464-1751del (human) PMID:16385653|REF_RGD_ID:8142355 11900117 ACE angiotensin I converting enzyme gene DOID:783 end stage renal disease treatment ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:14586729|REF_RGD_ID:12879398 11900117 ACE angiotensin I converting enzyme gene DOID:790 ocular hypotension ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:24583339|REF_RGD_ID:11039029 11900117 ACE angiotensin I converting enzyme gene DOID:820 myocarditis treatment ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:24709159|REF_RGD_ID:11039042 11900117 ACE angiotensin I converting enzyme gene DOID:841 extrinsic allergic alveolitis ISO RGD:737323 D RGD:9068941 20200611 RGD protein:increased expression:plasma PMID:19218674|REF_RGD_ID:4140920 11900117 ACE angiotensin I converting enzyme gene DOID:8432 polycythemia treatment ISO RGD:737323 D RGD:9068941 20200611 RGD PMID:18339134|REF_RGD_ID:11038827 11900117 ACE angiotensin I converting enzyme gene DOID:850 lung disease ISO RGD:10468 D RGD:9068941 20200611 RGD Lung Injury PMID:20723410|REF_RGD_ID:5129168 11900117 ACE angiotensin I converting enzyme gene DOID:850 lung disease ISO RGD:10468 D RGD:9068941 20200611 RGD associated with Diabetes Mellitus, Experimental PMID:20004673|REF_RGD_ID:4140488 11900117 ACE angiotensin I converting enzyme gene DOID:850 lung disease ISO RGD:2493 D RGD:9068941 20200611 RGD associated with Endotoxemia PMID:19114890|REF_RGD_ID:2325231 11900117 ACE angiotensin I converting enzyme gene DOID:850 lung disease ISO RGD:2493 D RGD:9068941 20200611 RGD associated with Poisoning;mRNA:decreased expression:lung PMID:20465954|REF_RGD_ID:4140485 11900117 ACE angiotensin I converting enzyme gene DOID:850 lung disease ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:18702808 11900117 ACE angiotensin I converting enzyme gene DOID:8552 chronic myeloid leukemia ISO RGD:737323 D RGD:9068941 20200611 RGD PMID:19761684|REF_RGD_ID:11039056 11900117 ACE angiotensin I converting enzyme gene DOID:8646 substance-induced psychosis ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:17196621 11900117 ACE angiotensin I converting enzyme gene DOID:8719 in situ carcinoma ISO RGD:10468 D RGD:9068941 20200611 RGD associated with Pancreatic Neoplasms PMID:19880966|REF_RGD_ID:2325208 11900117 ACE angiotensin I converting enzyme gene DOID:8805 intermediate coronary syndrome ISO RGD:737323 D RGD:9068941 20200611 RGD mRNA:increased expression:myocardium PMID:11451295|REF_RGD_ID:8548894 11900117 ACE angiotensin I converting enzyme gene DOID:8805 intermediate coronary syndrome ISO RGD:737323 D RGD:9068941 20200611 RGD mRNA:increased expression:ventricular myocardium (human) PMID:15131005|REF_RGD_ID:8142363 11900117 ACE angiotensin I converting enzyme gene DOID:8947 diabetic retinopathy ISO RGD:737323 D RGD:9068941 20200611 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum (human) PMID:2157294|REF_RGD_ID:8142360 11900117 ACE angiotensin I converting enzyme gene DOID:8947 diabetic retinopathy no_association ISO RGD:737323 D RGD:9068941 20200611 RGD associated with Diabetes Mellitus, Type 1;DNA:deletion:intron:IVS16+1464-1751del (human) PMID:7729604|REF_RGD_ID:7829780 11900117 ACE angiotensin I converting enzyme gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:737323 D RGD:9068941 20200611 RGD associated with Diabetes Mellitus, Type 2;DNA:deletion:intron:IVS16+1464-1751del (human) PMID:11106834|REF_RGD_ID:7829783 11900117 ACE angiotensin I converting enzyme gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:737323 D RGD:9068941 20200611 RGD associated with Diabetes Mellitus, Type 2;DNA:snp:exon:g.2350G>A (rs4343) (human) PMID:23065222|REF_RGD_ID:7829794 11900117 ACE angiotensin I converting enzyme gene DOID:8970 subacute sclerosing panencephalitis ISO RGD:737323 D RGD:9068941 20201105 RGD DNA:insertion/deletion: PMID:16741935|REF_RGD_ID:40400901 11900117 ACE angiotensin I converting enzyme gene DOID:9000064 Cardiac Arrhythmias ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:15331425 11900117 ACE angiotensin I converting enzyme gene DOID:9000064 Cardiac Arrhythmias ISO RGD:737323 D RGD:9068941 20200611 RGD associated with Kidney Failure, Chronic;DNA:insertion/deletion PMID:16105049|REF_RGD_ID:8548864 11900117 ACE angiotensin I converting enzyme gene DOID:9000099 Experimental Colitis treatment ISO RGD:10468 D RGD:9068941 20201105 RGD PMID:17342403|PMID:24239644|REF_RGD_ID:40400720|REF_RGD_ID:40400748 11900117 ACE angiotensin I converting enzyme gene DOID:9000184 Ventricular Fibrillation treatment ISO RGD:2493 D RGD:9068941 20200611 RGD associated with Myocardial Reperfusion Injury PMID:25663023|REF_RGD_ID:11039030 11900117 ACE angiotensin I converting enzyme gene DOID:9000217 Stomach Neoplasms ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:18059164 11900117 ACE angiotensin I converting enzyme gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:2493 D RGD:9068941 20200611 RGD mRNA:increased expression:carotid body PMID:24036592|REF_RGD_ID:11039031 11900117 ACE angiotensin I converting enzyme gene DOID:9000310 Lung Injury ISO RGD:737323 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16001071|PMID:33007385 11900117 ACE angiotensin I converting enzyme gene DOID:9000352 Vascular System Injuries ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:19258495 11900117 ACE angiotensin I converting enzyme gene DOID:9000352 Vascular System Injuries susceptibility ISO RGD:2493 D RGD:9068941 20200611 RGD DNA:repeat:intron:IVS13+40(CA)?-26 (rat) PMID:9484988|REF_RGD_ID:8157602 11900117 ACE angiotensin I converting enzyme gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:18727619 11900117 ACE angiotensin I converting enzyme gene DOID:9000528 Coronary Disease ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:8170965 11900117 ACE angiotensin I converting enzyme gene DOID:9000528 Coronary Disease susceptibility ISO RGD:737323 D RGD:9068941 20200611 RGD DNA:deletion:intron:IVS16+1464-1751del (human) PMID:9488209|REF_RGD_ID:8142364 11900117 ACE angiotensin I converting enzyme gene DOID:9000641 Pain ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:18555989|REF_RGD_ID:2325233 11900117 ACE angiotensin I converting enzyme gene DOID:9000965 Neoplasm Metastasis ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:18059164 11900117 ACE angiotensin I converting enzyme gene DOID:9001136 Familial Cerebral Cavernous Malformation ISO RGD:737323 D RGD:9068941 20200611 RGD DNA:deletion:intron:IVS16+1464-1751del (human) PMID:20488708|REF_RGD_ID:11039024 11900117 ACE angiotensin I converting enzyme gene DOID:9001285 Alcoholic Liver Diseases severity ISO RGD:737323 D RGD:9068941 20200611 RGD protein:increased activity:serum (human) PMID:3028446|REF_RGD_ID:19165343 11900117 ACE angiotensin I converting enzyme gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:737323 D RGD:9068941 20201105 RGD PMID:28691216|REF_RGD_ID:40400719 11900117 ACE angiotensin I converting enzyme gene DOID:9001415 Mycobacterium Infections ISO RGD:737323 D RGD:9068941 20201203 RGD associated with pulmonary sarcoidosis;protein:increased expression:blood serum (human) PMID:15881283|REF_RGD_ID:40818305 11900117 ACE angiotensin I converting enzyme gene DOID:9001542 Albuminuria ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:23733546 11900117 ACE angiotensin I converting enzyme gene DOID:9001542 Albuminuria ISO RGD:737323 D RGD:9068941 20200611 RGD associated with Diabetes Mellitus, Type 1;protein:increased activity:serum (human) PMID:1336356|REF_RGD_ID:7829770 11900117 ACE angiotensin I converting enzyme gene DOID:9001542 Albuminuria treatment ISO RGD:2493 D RGD:9068941 20200611 RGD associated with Diabetic Nephropathies PMID:16902320|REF_RGD_ID:12879427 11900117 ACE angiotensin I converting enzyme gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2493 D RGD:9068941 20200611 RGD mRNA:increased expression:liver (rat) PMID:23663763|REF_RGD_ID:25671457 11900117 ACE angiotensin I converting enzyme gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2493 D RGD:9068941 20200611 RGD protein:increased activity:plasma (human) PMID:8445218|REF_RGD_ID:25671458 11900117 ACE angiotensin I converting enzyme gene DOID:9001573 Experimental Liver Cirrhosis severity ISO RGD:2493 D RGD:9068941 20200611 RGD mRNA: increased expression:liver (rat) PMID:19424597|REF_RGD_ID:25671449 11900117 ACE angiotensin I converting enzyme gene DOID:9001573 Experimental Liver Cirrhosis severity ISO RGD:2493 D RGD:9068941 20200611 RGD mRNA:increased expression:liver (rat) PMID:24035938|REF_RGD_ID:21408579 11900117 ACE angiotensin I converting enzyme gene DOID:9001650 Pregnancy-Induced Hypertension ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:17977916|REF_RGD_ID:8548898 11900117 ACE angiotensin I converting enzyme gene DOID:9001916 Fetal Death ISO RGD:737323 D RGD:9068941 20200611 RGD DNA:deletion:intron:IVS16+1464-1751del (human) PMID:11085286|REF_RGD_ID:11038921 11900117 ACE angiotensin I converting enzyme gene DOID:9001981 Weight Loss ISO RGD:737323 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:33007385 11900117 ACE angiotensin I converting enzyme gene DOID:9002165 Diabetic Nephropathies ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:19301230|REF_RGD_ID:2311449 11900117 ACE angiotensin I converting enzyme gene DOID:9002165 Diabetic Nephropathies ISO RGD:737323 D RGD:9068941 20200611 RGD associated with Diabetes Mellitus, Type 1;DNA:insertion/deletion PMID:10862638|REF_RGD_ID:8548872 11900117 ACE angiotensin I converting enzyme gene DOID:9002165 Diabetic Nephropathies ISO RGD:737323 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:10099885|PMID:10857950|PMID:23733546|PMID:28468961|PMID:7909524 11900117 ACE angiotensin I converting enzyme gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:737323 D RGD:9068941 20200611 RGD associated with Diabetes Mellitus, Type 1;DNA:deletion:intron:IVS16+1464-1751del (human) PMID:7729604|REF_RGD_ID:7829780 11900117 ACE angiotensin I converting enzyme gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:737323 D RGD:9068941 20200611 RGD associated with Diabetes Mellitus, Type 2;DNA:insertion/deletion PMID:11938025|REF_RGD_ID:8548885 11900117 ACE angiotensin I converting enzyme gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:737323 D RGD:9068941 20200611 RGD associated with Diabetes Mellitus, Type 1;DNA:deletion:intron:IVS16+1464-1751del (human) PMID:8314010|REF_RGD_ID:7829777 11900117 ACE angiotensin I converting enzyme gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2493 D RGD:9068941 20200611 RGD associated with Diabetes Mellitus, Experimental PMID:23803175|REF_RGD_ID:11039044 11900117 ACE angiotensin I converting enzyme gene DOID:9002231 Fetal Growth Retardation ISO RGD:2493 D RGD:9068941 20200611 RGD mRNA:increased expression:kidney (rat) PMID:24847689|REF_RGD_ID:12879387 11900117 ACE angiotensin I converting enzyme gene DOID:9002304 Prostatic Neoplasms ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:17465223 11900117 ACE angiotensin I converting enzyme gene DOID:9002457 Experimental Arthritis ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:20213806|REF_RGD_ID:2325221 11900117 ACE angiotensin I converting enzyme gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:10468 D RGD:9068941 20200611 RGD PMID:19270231|REF_RGD_ID:12879821 11900117 ACE angiotensin I converting enzyme gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:15770604|REF_RGD_ID:12879430 11900117 ACE angiotensin I converting enzyme gene DOID:9002676 Cerebral Hemorrhage ISO RGD:737323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemorrhage, intracerebral, susceptibility to | ClinVar Annotator: match by term: Intracerebral hemorrhage PMID:10099885|PMID:10636736|PMID:10643899|PMID:10841123|PMID:11687636|PMID:11956052|PMID:12220450|PMID:12666117|PMID:1313972|PMID:1319114|PMID:1328889|PMID:1386652|PMID:14657821|PMID:14872014|PMID:15110771|PMID:15277638|PMID:15381116|PMID:15531537|PMID:15534175|PMID:15635071|PMID:19221299|PMID:1976655|PMID:25741868|PMID:2847529|PMID:2849100|PMID:7593601|PMID:7729604|PMID:7783416|PMID:7854377|PMID:7909524|PMID:8131299|PMID:8131300|PMID:8136829|PMID:8170965|PMID:8208911|PMID:8298638|PMID:8314010|PMID:8541160|PMID:8644984|PMID:8675669|PMID:9120002|PMID:9236417|PMID:9259580|PMID:9699903|PMID:9737775|PMID:9916793 11900117 ACE angiotensin I converting enzyme gene DOID:9002721 Hypertensive Nephrosclerosis severity ISO RGD:737323 D RGD:9068941 20201127 RGD protein:increased expression:nephron tubule, kidney interstitium (human) PMID:21346373|REF_RGD_ID:40818408 11900117 ACE angiotensin I converting enzyme gene DOID:9002721 Hypertensive Nephrosclerosis treatment ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:10580398|REF_RGD_ID:12879397 11900117 ACE angiotensin I converting enzyme gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia ISO RGD:737323 D RGD:9068941 20201105 RGD associated with acute leukemia;DNA:insertion/deletion:intron 16: PMID:24819208|REF_RGD_ID:11530041 11900117 ACE angiotensin I converting enzyme gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia severity ISO RGD:737323 D RGD:9068941 20200611 RGD DNA:deletion:intron:IVS16+1464-1751del (human) PMID:15806540|REF_RGD_ID:11038917 11900117 ACE angiotensin I converting enzyme gene DOID:9003379 Radiation Nephropathy treatment ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:8995730|REF_RGD_ID:12880012 11900117 ACE angiotensin I converting enzyme gene DOID:9003505 Venous Thromboembolism susceptibility ISO RGD:737323 D RGD:9068941 20200611 RGD DNA:deletion:intron:IVS16+1464-1751del (human) PMID:10937809|REF_RGD_ID:11038826 11900117 ACE angiotensin I converting enzyme gene DOID:9003758 Banti's Syndrome ISO RGD:737323 D RGD:9068941 20200611 RGD protein:increased expression:serum (human) PMID:21290180|REF_RGD_ID:25671452 11900117 ACE angiotensin I converting enzyme gene DOID:9003936 Cardiomegaly treatment ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:24342267|REF_RGD_ID:11039415 11900117 ACE angiotensin I converting enzyme gene DOID:9004009 Reperfusion Injury ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:20436217|REF_RGD_ID:2325213 11900117 ACE angiotensin I converting enzyme gene DOID:9004017 Chronic Hepatitis C ISO RGD:737323 D RGD:9068941 20200611 RGD protein:decreased expression:serum (human) PMID:29641775|REF_RGD_ID:25671451 11900117 ACE angiotensin I converting enzyme gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:27147779|REF_RGD_ID:25671456 11900117 ACE angiotensin I converting enzyme gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:737323 D RGD:9068941 20201105 RGD PMID:17106926|REF_RGD_ID:40400711 11900117 ACE angiotensin I converting enzyme gene DOID:9004484 Sepsis susceptibility ISO RGD:737323 D RGD:9068941 20201105 RGD DNA:insertion/deletion:intron: PMID:19143971|REF_RGD_ID:40400706 11900117 ACE angiotensin I converting enzyme gene DOID:9004610 Acute Lung Injury treatment ISO RGD:10468 D RGD:9068941 20201105 RGD associated wit Escherichia coli Infections PMID:29990483|REF_RGD_ID:40400897 11900117 ACE angiotensin I converting enzyme gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:2493 D RGD:9068941 20200611 RGD protein:increased activity:lung, heart left ventricle, plasma (rat) PMID:12131554|REF_RGD_ID:8157600 11900117 ACE angiotensin I converting enzyme gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:8349331 11900117 ACE angiotensin I converting enzyme gene DOID:9004616 Left Ventricular Hypertrophy susceptibility ISO RGD:737323 D RGD:9068941 20200611 RGD associated with Hypertension, Essential;DNA:deletion:intron:IVS16+1464-1751del (human) PMID:17625392|REF_RGD_ID:8142350 11900117 ACE angiotensin I converting enzyme gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:2493 D RGD:9068941 20200611 RGD associated with Aortic Coarctation PMID:10072897|PMID:9344638|REF_RGD_ID:12879391|REF_RGD_ID:12880015 11900117 ACE angiotensin I converting enzyme gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:737323 D RGD:9068941 20200611 RGD associated with Anemia PMID:15503682|REF_RGD_ID:11038918 11900117 ACE angiotensin I converting enzyme gene DOID:9004657 Weight Gain ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:25322899 11900117 ACE angiotensin I converting enzyme gene DOID:9004676 Premature Infant Diseases ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:14657821 11900117 ACE angiotensin I converting enzyme gene DOID:9005172 Lung Neoplasms ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 11900117 ACE angiotensin I converting enzyme gene DOID:9005605 Arteriovenous Fistula ISO RGD:2493 D RGD:9068941 20200611 RGD protein:increased activity:heart left ventricle (rat) PMID:22768235|REF_RGD_ID:12859285 11900117 ACE angiotensin I converting enzyme gene DOID:9005605 Arteriovenous Fistula treatment ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:8386093|REF_RGD_ID:12880017 11900117 ACE angiotensin I converting enzyme gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2493 D RGD:9068941 20200611 RGD protein:increased expression:kidney PMID:18679036|REF_RGD_ID:2313799 11900117 ACE angiotensin I converting enzyme gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:22191573 11900117 ACE angiotensin I converting enzyme gene DOID:9005883 Pleural Effusion ISO RGD:737323 D RGD:9068941 20201203 RGD associated with tuberculosis;protein:increased activity:pleural fluid (human) PMID:23091417|REF_RGD_ID:40818411 11900117 ACE angiotensin I converting enzyme gene DOID:9005930 Endotoxemia ISO RGD:2493 D RGD:9068941 20200611 RGD associated with Hemorrhage;protein:decreased activity:plasma (rat) PMID:3028670|REF_RGD_ID:8142370 11900117 ACE angiotensin I converting enzyme gene DOID:9006024 Hypotension ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: therapeutic PMID:3544871 11900117 ACE angiotensin I converting enzyme gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:2493 D RGD:9068941 20200611 RGD associated with Hypertension;protein:increased activity:heart right ventricle (rat) PMID:7585810|REF_RGD_ID:8142368 11900117 ACE angiotensin I converting enzyme gene DOID:9006137 Renal Tubular Dysgenesis ISO RGD:737323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal tubular dysgenesis PMID:16116425|PMID:20093180|PMID:20416077|PMID:21471972|PMID:22095942|PMID:22829467|PMID:24033266|PMID:24163131|PMID:25741868|PMID:28492532|PMID:33532864|PMID:34906502 11900117 ACE angiotensin I converting enzyme gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:21680852|REF_RGD_ID:6893484 11900117 ACE angiotensin I converting enzyme gene DOID:9006262 Cytomegalovirus Infections ISO RGD:737323 D RGD:9068941 20201105 RGD associated with essential hypertension:DNA:hypomethylation PMID:29752343|REF_RGD_ID:40400905 11900117 ACE angiotensin I converting enzyme gene DOID:9006618 Liver Metastasis ISO RGD:10468 D RGD:9068941 20200611 RGD associated with colorectal cancer;mRNA:increased expression:liver (mouse) PMID:20380732|REF_RGD_ID:25671446 11900117 ACE angiotensin I converting enzyme gene DOID:9006697 Congenital Hepatic Fibrosis ISO RGD:2493 D RGD:9068941 20200611 RGD associated with Polycystic Kidney, Autosomal Recessive;mRNA:increased expression:liver PMID:20400910|REF_RGD_ID:2325215 11900117 ACE angiotensin I converting enzyme gene DOID:9006741 Acute Hepatitis treatment ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:31385307|REF_RGD_ID:25671455 11900117 ACE angiotensin I converting enzyme gene DOID:9006832 Puromycin Aminonucleoside Nephrosis treatment ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:3392211|REF_RGD_ID:12879820 11900117 ACE angiotensin I converting enzyme gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:2493 D RGD:9068941 20200611 RGD associated with Diabetes Mellitus, Experimental PMID:22595130|REF_RGD_ID:9685456 11900117 ACE angiotensin I converting enzyme gene DOID:9007073 Cough ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:12848919|PMID:15498266 11900117 ACE angiotensin I converting enzyme gene DOID:9007073 Cough ISO RGD:737323 D RGD:9068941 20200611 RGD PMID:20364557|REF_RGD_ID:4140914 11900117 ACE angiotensin I converting enzyme gene DOID:9007096 Stroke ISO RGD:737323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CEREBROVASCULAR ACCIDENT PMID:10099885|PMID:10636736|PMID:10643899|PMID:10841123|PMID:11687636|PMID:11956052|PMID:12220450|PMID:12666117|PMID:1313972|PMID:1319114|PMID:1328889|PMID:1386652|PMID:14657821|PMID:14872014|PMID:15110771|PMID:15277638|PMID:15381116|PMID:15531537|PMID:15534175|PMID:15635071|PMID:19221299|PMID:1976655|PMID:2847529|PMID:2849100|PMID:7593601|PMID:7729604|PMID:7783416|PMID:7854377|PMID:7909524|PMID:8131299|PMID:8131300|PMID:8136829|PMID:8170965|PMID:8208911|PMID:8298638|PMID:8314010|PMID:8541160|PMID:8644984|PMID:8675669|PMID:9120002|PMID:9236417|PMID:9259580|PMID:9699903|PMID:9737775|PMID:9916793 11900117 ACE angiotensin I converting enzyme gene DOID:9007096 Stroke treatment ISO RGD:737323 D RGD:9068941 20201105 RGD PMID:15256675|REF_RGD_ID:40400712 11900117 ACE angiotensin I converting enzyme gene DOID:9007174 Ventricular Remodeling treatment ISO RGD:2493 D RGD:9068941 20200611 RGD associated with Acute Kidney Injury PMID:18223026|REF_RGD_ID:9685440 11900117 ACE angiotensin I converting enzyme gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2493 D RGD:9068941 20200611 RGD mRNA:increased expression:liver (rat) PMID:25143335|REF_RGD_ID:25671447 11900117 ACE angiotensin I converting enzyme gene DOID:9007480 Hyperoxia ISO RGD:2493 D RGD:9068941 20200611 RGD mRNA, protein:increased expression:lung (rat) PMID:21791939|REF_RGD_ID:12880008 11900117 ACE angiotensin I converting enzyme gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:15001561|REF_RGD_ID:13515113 11900117 ACE angiotensin I converting enzyme gene DOID:9007820 Sudden Death ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:15331425 11900117 ACE angiotensin I converting enzyme gene DOID:9007908 Aortic Coarctation ISO RGD:2493 D RGD:9068941 20200611 RGD mRNA, protein:increased expression:myocardium (rat) PMID:18419956|REF_RGD_ID:12859271 11900117 ACE angiotensin I converting enzyme gene DOID:9008023 Memory Disorders ISO RGD:2493 D RGD:9068941 20200611 RGD PMID:21864581|REF_RGD_ID:6893483 11900117 ACE angiotensin I converting enzyme gene DOID:9008114 Helicobacter Infections susceptibility ISO RGD:737323 D RGD:9068941 20201105 RGD DNA:insertion/deletion:intron: PMID:28746216|REF_RGD_ID:40400710 11900117 ACE angiotensin I converting enzyme gene DOID:9008366 Meningococcal Infections ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:11956052 11900117 ACE angiotensin I converting enzyme gene DOID:9008705 Angiotensin I-Converting Enzyme, Benign Serum Increase ISO RGD:737323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angiotensin i-converting enzyme, benign serum increase PMID:11076943|PMID:11551873|PMID:14694062 11900117 ACE angiotensin I converting enzyme gene DOID:9008885 Staphylococcal Infections ISO RGD:737323 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:8186310 11900117 ACE angiotensin I converting enzyme gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737323 D RGD:9068941 20200611 RGD DNA:deletion:intron:IVS16+1464-1751del (human) PMID:24452036|REF_RGD_ID:8142353 11900117 ACE angiotensin I converting enzyme gene DOID:9538 multiple myeloma ISO RGD:737323 D RGD:9068941 20200611 RGD protein:increased activity:serum PMID:22345095|REF_RGD_ID:11038914 11900117 ACE angiotensin I converting enzyme gene DOID:9744 type 1 diabetes mellitus ISO RGD:737323 D RGD:9068941 20200611 RGD protein:increased activity:serum (human) PMID:1336356|REF_RGD_ID:7829770 11900117 ACE angiotensin I converting enzyme gene DOID:9744 type 1 diabetes mellitus disease progression ISO RGD:737323 D RGD:9068941 20200611 RGD DNA:deletion:intron:IVS16+1464-1751del (human) PMID:9025006|REF_RGD_ID:7829799 11900117 ACE angiotensin I converting enzyme gene DOID:9775 diastolic heart failure severity ISO RGD:737323 D RGD:9068941 20201105 RGD DNS:insertion/deletion:intron: (rs1799752) PMID:19752885|REF_RGD_ID:40400704 11900117 ACE angiotensin I converting enzyme gene DOID:9775 diastolic heart failure susceptibility ISO RGD:737323 D RGD:9068941 20201105 RGD DNA:insertion/deletion:intron 16: PMID:19021695|REF_RGD_ID:40400906 11900117 ACE angiotensin I converting enzyme gene DOID:9775 diastolic heart failure treatment ISO RGD:2493 D RGD:9068941 20201105 RGD PMID:14757777|REF_RGD_ID:40400723 11900117 ACE angiotensin I converting enzyme gene DOID:988 mitral valve prolapse severity ISO RGD:737323 D RGD:9068941 20200611 RGD associated with Marfan Syndrome;DNA:polymorphism,haplotype: PMID:17379330|REF_RGD_ID:13432357 11900117 ACE angiotensin I converting enzyme gene DOID:9970 obesity ISO RGD:2493 D RGD:9068941 20200611 RGD protein:increased expression:liver PMID:19361967|REF_RGD_ID:2325227 11900117 ACE angiotensin I converting enzyme gene DOID:9970 obesity no_association ISO RGD:737323 D RGD:9068941 20200611 RGD PMID:17164796|REF_RGD_ID:1601115 11900135 LOC100982084 olfactory receptor 4C12 gene DOID:10283 prostate cancer ISO RGD:1350996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11900135 LOC100982084 olfactory receptor 4C12 gene DOID:1059 intellectual disability ISO RGD:1350996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11900135 LOC100982084 olfactory receptor 4C12 gene DOID:630 genetic disease ISO RGD:1350996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900140 FUT5 fucosyltransferase 5 gene DOID:630 genetic disease ISO RGD:1348340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900148 PEX16 peroxisomal biogenesis factor 16 gene DOID:0050444 infantile Refsum disease ISO RGD:1322796 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) PMID:11890679|PMID:16199547|PMID:17576681|PMID:20647552|PMID:20681997|PMID:25326635|PMID:25741868|PMID:27391121|PMID:28492532|PMID:30078639|PMID:9536098|PMID:9837814 11900148 PEX16 peroxisomal biogenesis factor 16 gene DOID:0050444 infantile Refsum disease ISO RGD:1322796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) PMID:11890679|PMID:16199547|PMID:17576681|PMID:20647552|PMID:20681997|PMID:24091540|PMID:25287621|PMID:25326635|PMID:25741868|PMID:27391121|PMID:28492532|PMID:30078639|PMID:31227335|PMID:9536098|PMID:9837814 11900148 PEX16 peroxisomal biogenesis factor 16 gene DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ISO RGD:1322796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY PMID:25741868|PMID:28492532 11900148 PEX16 peroxisomal biogenesis factor 16 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1322796 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY PMID:25741868|PMID:28492532 11900148 PEX16 peroxisomal biogenesis factor 16 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1322796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11900148 PEX16 peroxisomal biogenesis factor 16 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1322796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11890679|PMID:12223482 11900148 PEX16 peroxisomal biogenesis factor 16 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1322796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a PMID:25741868|PMID:28492532 11900148 PEX16 peroxisomal biogenesis factor 16 gene DOID:0080483 peroxisome biogenesis disorder 8A ISO RGD:1322796 D RGD:7240710 20180130 OMIM 11900148 PEX16 peroxisomal biogenesis factor 16 gene DOID:0080483 peroxisome biogenesis disorder 8A ISO RGD:1322796 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder due to PEX16 defect PMID:11890679|PMID:17576681|PMID:20647552|PMID:20681997|PMID:24091540|PMID:25287621|PMID:25326635|PMID:25741868|PMID:27391121|PMID:28492532|PMID:30078639|PMID:31227335|PMID:9536098|PMID:9837814 11900148 PEX16 peroxisomal biogenesis factor 16 gene DOID:1059 intellectual disability ISO RGD:1322796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11900148 PEX16 peroxisomal biogenesis factor 16 gene DOID:10907 microcephaly ISO RGD:1322796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11900148 PEX16 peroxisomal biogenesis factor 16 gene DOID:630 genetic disease ISO RGD:1322796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11900148 PEX16 peroxisomal biogenesis factor 16 gene DOID:9004875 Peroxisome Biogenesis Disorder 8B ISO RGD:1322796 D RGD:7240710 20180130 OMIM 11900148 PEX16 peroxisomal biogenesis factor 16 gene DOID:9004875 Peroxisome Biogenesis Disorder 8B ISO RGD:1322796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8B PMID:20647552|PMID:24088041|PMID:25326635|PMID:25741868|PMID:26633545|PMID:27391121|PMID:28492532|PMID:30078639|PMID:31227335 11900148 PEX16 peroxisomal biogenesis factor 16 gene DOID:9006420 Zellweger Leukodystrophy ISO RGD:1322796 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:25741868|PMID:28492532 11900148 PEX16 peroxisomal biogenesis factor 16 gene DOID:905 Zellweger syndrome ISO RGD:1322796 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:11890679|PMID:16199547|PMID:17576681|PMID:20647552|PMID:20681997|PMID:25326635|PMID:25741868|PMID:27391121|PMID:28492532|PMID:30078639|PMID:9536098|PMID:9837814 11900148 PEX16 peroxisomal biogenesis factor 16 gene DOID:905 Zellweger syndrome ISO RGD:1322796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum PMID:11890679|PMID:16199547|PMID:17576681|PMID:20647552|PMID:20681997|PMID:24091540|PMID:25287621|PMID:25326635|PMID:25741868|PMID:27391121|PMID:28492532|PMID:30078639|PMID:31227335|PMID:9536098|PMID:9837814 11900167 DBNDD1 dysbindin domain containing 1 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1604304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 11900167 DBNDD1 dysbindin domain containing 1 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1604304 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11900167 DBNDD1 dysbindin domain containing 1 gene DOID:13636 Fanconi anemia ISO RGD:1604304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 11900167 DBNDD1 dysbindin domain containing 1 gene DOID:630 genetic disease ISO RGD:1604304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900175 C2AH2orf73 chromosome 2A C2orf73 homolog gene DOID:630 genetic disease ISO RGD:1603909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900195 SLC52A3 solute carrier family 52 member 3 gene DOID:0050694 Brown-Vialetto-Van Laere syndrome ISO RGD:1312203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11900195 SLC52A3 solute carrier family 52 member 3 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1312203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28220687 11900195 SLC52A3 solute carrier family 52 member 3 gene DOID:0080632 Fazio-Londe disease ISO RGD:1312203 D RGD:7240710 20200311 OMIM 11900195 SLC52A3 solute carrier family 52 member 3 gene DOID:0080632 Fazio-Londe disease ISO RGD:1312203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive bulbar palsy of childhood PMID:20206331|PMID:20920669|PMID:21110228|PMID:22273710|PMID:22718020|PMID:22824638|PMID:23688382|PMID:24033266|PMID:25462087|PMID:25741868|PMID:26072523|PMID:27702554|PMID:28492532|PMID:29053833|PMID:29501408|PMID:29950502|PMID:33189404|PMID:33325104|PMID:34426522|PMID:34662687 11900195 SLC52A3 solute carrier family 52 member 3 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:1312203 D RGD:7240710 20190320 OMIM 11900195 SLC52A3 solute carrier family 52 member 3 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:1312203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:16122634|PMID:16199547|PMID:17576681|PMID:2020633|PMID:20206331|PMID:20920669|PMID:21110228|PMID:21512156|PMID:22273710|PMID:22633641|PMID:22718020|PMID:22740598|PMID:22824638|PMID:23107375|PMID:23688382|PMID:24033266|PMID:24239381|PMID:25462087|PMID:25741868|PMID:26072523|PMID:26443808|PMID:27702554|PMID:27777325|PMID:28251916|PMID:28492532|PMID:28856173|PMID:29053833|PMID:29501408|PMID:29950502|PMID:29961494|PMID:32579787|PMID:33189404|PMID:33325104|PMID:34395718|PMID:34426522|PMID:34662687|PMID:9536098 11900195 SLC52A3 solute carrier family 52 member 3 gene DOID:231 motor neuron disease ISO RGD:1312203 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Madras motor neuron disease PMID:25741868|PMID:28492532|PMID:32579787 11900195 SLC52A3 solute carrier family 52 member 3 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1312203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20729853 11900195 SLC52A3 solute carrier family 52 member 3 gene DOID:630 genetic disease ISO RGD:1312203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20206331|PMID:20920669|PMID:21110228|PMID:21512156|PMID:22718020|PMID:22740598|PMID:22824638|PMID:23688382|PMID:24033266|PMID:25462087|PMID:25741868|PMID:26072523|PMID:27702554|PMID:27777325|PMID:28251916|PMID:28492532|PMID:28856173|PMID:29053833|PMID:29501408|PMID:29961494|PMID:32579787|PMID:33189404|PMID:33325104|PMID:34395718|PMID:34426522|PMID:34662687 11900195 SLC52A3 solute carrier family 52 member 3 gene DOID:681 progressive bulbar palsy ISO RGD:1312203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11900195 SLC52A3 solute carrier family 52 member 3 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:1312203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency PMID:28492532 11900213 UBE3B ubiquitin protein ligase E3B gene DOID:0050452 mevalonic aciduria ISO RGD:1350438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mevalonic aciduria PMID:28492532 11900213 UBE3B ubiquitin protein ligase E3B gene DOID:0111456 Kaufman oculocerebrofacial syndrome ISO RGD:1350438 D RGD:7240710 20180130 OMIM 11900213 UBE3B ubiquitin protein ligase E3B gene DOID:0111456 Kaufman oculocerebrofacial syndrome ISO RGD:1350438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome | ClinVar Annotator: match by term: Oculocerebrofacial syndrome, Kaufman type PMID:14556252|PMID:16199547|PMID:1694631|PMID:17576681|PMID:23200864|PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:9536098 11900213 UBE3B ubiquitin protein ligase E3B gene DOID:630 genetic disease ISO RGD:1350438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:9536098 11900264 RNF123 ring finger protein 123 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 11900264 RNF123 ring finger protein 123 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 11900264 RNF123 ring finger protein 123 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1350672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11900264 RNF123 ring finger protein 123 gene DOID:630 genetic disease ISO RGD:1350672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900264 RNF123 ring finger protein 123 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1350672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11900309 LIPK lipase family member K gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1320217 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9286463|PMID:9467011 11900309 LIPK lipase family member K gene DOID:630 genetic disease ISO RGD:1320217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900320 ZKSCAN2 zinc finger with KRAB and SCAN domains 2 gene DOID:630 genetic disease ISO RGD:1605808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900331 CGA glycoprotein hormones, alpha polypeptide gene DOID:0060224 atrial fibrillation ISO RGD:1348590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 11900331 CGA glycoprotein hormones, alpha polypeptide gene DOID:10286 prostate carcinoma ISO RGD:1348590 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:12180238|REF_RGD_ID:2293634 11900331 CGA glycoprotein hormones, alpha polypeptide gene DOID:10969 hemiplegia ISO RGD:1348590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10566621 11900331 CGA glycoprotein hormones, alpha polypeptide gene DOID:1100 ovarian disease ISO RGD:1348590 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20146381 11900331 CGA glycoprotein hormones, alpha polypeptide gene DOID:14228 oligospermia ISO RGD:1348590 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16483355 11900331 CGA glycoprotein hormones, alpha polypeptide gene DOID:1612 breast cancer disease_progression ISO RGD:1348590 D RGD:9068941 20200609 RGD PMID:11687975|REF_RGD_ID:2293635 11900331 CGA glycoprotein hormones, alpha polypeptide gene DOID:2696 Leydig cell tumor ISO RGD:1348590 D RGD:9068941 20200609 RGD PMID:16007123|REF_RGD_ID:2293633 11900331 CGA glycoprotein hormones, alpha polypeptide gene DOID:345 uterine disease ISO RGD:1348590 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20146381 11900331 CGA glycoprotein hormones, alpha polypeptide gene DOID:9000918 Disease Progression ISO RGD:1348590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10566621 11900331 CGA glycoprotein hormones, alpha polypeptide gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348590 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:increased expression:serum PMID:6768680|REF_RGD_ID:2293637 11900331 CGA glycoprotein hormones, alpha polypeptide gene DOID:9005147 Hydatidiform Mole ISO RGD:1348590 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:2473429|REF_RGD_ID:2293636 11900331 CGA glycoprotein hormones, alpha polypeptide gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:1348590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10566621 11900331 CGA glycoprotein hormones, alpha polypeptide gene DOID:9553 adrenal gland disease ISO RGD:1348590 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20146381 11900339 CAPN8 calpain 8 gene DOID:10608 celiac disease ISO RGD:736537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 11900339 CAPN8 calpain 8 gene DOID:1540 parathyroid carcinoma ISO RGD:736537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11900339 CAPN8 calpain 8 gene DOID:630 genetic disease ISO RGD:736537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900339 CAPN8 calpain 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11900364 CALML5 calmodulin like 5 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1320724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11900364 CALML5 calmodulin like 5 gene DOID:10652 Alzheimer's disease ISO RGD:1320724 D RGD:9068941 20200609 RGD protein:altered expression:neuron,glia PMID:11470324|REF_RGD_ID:13792493 11900364 CALML5 calmodulin like 5 gene DOID:5419 schizophrenia ISO RGD:1320724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11900364 CALML5 calmodulin like 5 gene DOID:630 genetic disease ISO RGD:1320724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900369 EGFL8 EGF like domain multiple 8 gene DOID:0050553 JMP syndrome ISO RGD:1347289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11900369 EGFL8 EGF like domain multiple 8 gene DOID:630 genetic disease ISO RGD:1347289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900387 TCEAL4 transcription elongation factor A like 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11900387 TCEAL4 transcription elongation factor A like 4 gene DOID:0110773 hereditary spastic paraplegia 2 ISO RGD:1351026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 PMID:10417279|PMID:16380909|PMID:18160035|PMID:19328639|PMID:28492532|PMID:9634530 11900387 TCEAL4 transcription elongation factor A like 4 gene DOID:12849 autistic disorder ISO RGD:1351026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11900387 TCEAL4 transcription elongation factor A like 4 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1351026 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:31690835|PMID:9633722|PMID:9634530 11900387 TCEAL4 transcription elongation factor A like 4 gene DOID:630 genetic disease ISO RGD:1351026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900387 TCEAL4 transcription elongation factor A like 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1351026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11900408 KALRN kalirin RhoGEF kinase gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1601887 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 11900408 KALRN kalirin RhoGEF kinase gene DOID:630 genetic disease ISO RGD:1601887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900408 KALRN kalirin RhoGEF kinase gene DOID:9000528 Coronary Disease ISO RGD:1601887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary heart disease, susceptibility to, 5 PMID:17357071|PMID:25741868 11900408 KALRN kalirin RhoGEF kinase gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1601887 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 11900408 KALRN kalirin RhoGEF kinase gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1601887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 11900408 KALRN kalirin RhoGEF kinase gene DOID:9270 alkaptonuria ISO RGD:1601887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11900479 AASDH aminoadipate-semialdehyde dehydrogenase gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1606160 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 11900479 AASDH aminoadipate-semialdehyde dehydrogenase gene DOID:630 genetic disease ISO RGD:1606160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900498 CENPH centromere protein H gene DOID:630 genetic disease ISO RGD:1312617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900498 CENPH centromere protein H gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11900498 CENPH centromere protein H gene DOID:9007479 Habitual Abortions ISO RGD:1312617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent spontaneous abortion 11900511 MAP3K19 mitogen-activated protein kinase kinase kinase 19 gene DOID:630 genetic disease ISO RGD:1604798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900540 PKN3 protein kinase N3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1314240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11900540 PKN3 protein kinase N3 gene DOID:630 genetic disease ISO RGD:1314240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900565 TESK2 testis associated actin remodelling kinase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:734237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11900565 TESK2 testis associated actin remodelling kinase 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:734237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11900565 TESK2 testis associated actin remodelling kinase 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:734237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11900565 TESK2 testis associated actin remodelling kinase 2 gene DOID:630 genetic disease ISO RGD:734237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900590 PPM1H protein phosphatase, Mg2+/Mn2+ dependent 1H gene DOID:630 genetic disease ISO RGD:1319913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900604 CBY2 chibby family member 2 gene DOID:630 genetic disease ISO RGD:1606126 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900606 NCF2 neutrophil cytosolic factor 2 gene DOID:0050855 renal fibrosis ISO RGD:1309424 D RGD:9068941 20200609 RGD PMID:22326221|REF_RGD_ID:9587793 11900606 NCF2 neutrophil cytosolic factor 2 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1319760 D RGD:7240710 20180130 OMIM 11900606 NCF2 neutrophil cytosolic factor 2 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1319760 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:10498624|PMID:10598813|PMID:11499676|PMID:16199547|PMID:16937026|PMID:17576681|PMID:18625437|PMID:19624736|PMID:19683193|PMID:19953534|PMID:20167518|PMID:21900546|PMID:23821607|PMID:24033266|PMID:24931457|PMID:25640679|PMID:25741868|PMID:25937994|PMID:26272171|PMID:28492532|PMID:28750028|PMID:29454792|PMID:30290665|PMID:30470980|PMID:30716179|PMID:32081864|PMID:32281309|PMID:33746979|PMID:7795241|PMID:8781442|PMID:8879195|PMID:9536098 11900606 NCF2 neutrophil cytosolic factor 2 gene DOID:0080452 developmental and epileptic encephalopathy 28 ISO RGD:1319760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 PMID:16937026|PMID:23821607|PMID:25741868|PMID:28492532 11900606 NCF2 neutrophil cytosolic factor 2 gene DOID:10652 Alzheimer's disease ISO RGD:1319760 D RGD:9068941 20200609 RGD protein:altered localization PMID:10873554|REF_RGD_ID:2314452 11900606 NCF2 neutrophil cytosolic factor 2 gene DOID:10763 hypertension ISO RGD:1309424 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle PMID:19307699|REF_RGD_ID:2314430 11900606 NCF2 neutrophil cytosolic factor 2 gene DOID:11832 visual epilepsy ISO RGD:1309424 D RGD:9068941 20200609 RGD protein:altered localization PMID:15606902|REF_RGD_ID:2314448 11900606 NCF2 neutrophil cytosolic factor 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1319760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11900606 NCF2 neutrophil cytosolic factor 2 gene DOID:3265 chronic granulomatous disease ISO RGD:1319760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic granulomatous disease 11900606 NCF2 neutrophil cytosolic factor 2 gene DOID:576 proteinuria ISO RGD:1309424 D RGD:9068941 20200609 RGD PMID:22326221|REF_RGD_ID:9587793 11900606 NCF2 neutrophil cytosolic factor 2 gene DOID:630 genetic disease ISO RGD:1319760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11900606 NCF2 neutrophil cytosolic factor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1319760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 11900606 NCF2 neutrophil cytosolic factor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1319760 D RGD:9068941 20210205 RGD DNA:polymorphism, SNP:cds (rs789181) (human) PMID:17897462|REF_RGD_ID:41404710 11900606 NCF2 neutrophil cytosolic factor 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1309424 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:14644473|REF_RGD_ID:2314450 11900606 NCF2 neutrophil cytosolic factor 2 gene DOID:9000955 Acute Otitis Media ISO RGD:8925847 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:mucosa of middle ear PMID:26711468|REF_RGD_ID:11553828 11900606 NCF2 neutrophil cytosolic factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1309424 D RGD:9068941 20200609 RGD protein:altered localization:glomerulus PMID:14514646|REF_RGD_ID:2314451 11900606 NCF2 neutrophil cytosolic factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1309424 D RGD:9068941 20200609 RGD protein:increased expression:heart, membrane fraction PMID:18061195|REF_RGD_ID:2314434 11900606 NCF2 neutrophil cytosolic factor 2 gene DOID:9007730 Burns ISO RGD:1309424 D RGD:9068941 20200609 RGD protein:increased expression:neutrophil PMID:9329126|REF_RGD_ID:2314453 11900606 NCF2 neutrophil cytosolic factor 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1319760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11900606 NCF2 neutrophil cytosolic factor 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11900606 NCF2 neutrophil cytosolic factor 2 gene DOID:9970 obesity ISO RGD:1309424 D RGD:9068941 20200609 RGD protein:increased expression:artery PMID:17515452|REF_RGD_ID:2314435 11900684 KIFC3 kinesin family member C3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1317029 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11900684 KIFC3 kinesin family member C3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1317029 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11900684 KIFC3 kinesin family member C3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1317029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11900684 KIFC3 kinesin family member C3 gene DOID:630 genetic disease ISO RGD:1317029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900734 RHOBTB2 Rho related BTB domain containing 2 gene DOID:10283 prostate cancer ISO RGD:1320529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11900734 RHOBTB2 Rho related BTB domain containing 2 gene DOID:1206 Rett syndrome ISO RGD:1320529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:18298893|PMID:25741868|PMID:28492532|PMID:29276004 11900734 RHOBTB2 Rho related BTB domain containing 2 gene DOID:1826 epilepsy ISO RGD:1320529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11900734 RHOBTB2 Rho related BTB domain containing 2 gene DOID:543 dystonia ISO RGD:1320529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:18835386|PMID:25741868|PMID:28492532|PMID:29276004|PMID:29768694|PMID:31780880|PMID:32337345|PMID:32581362|PMID:33504645 11900734 RHOBTB2 Rho related BTB domain containing 2 gene DOID:574 peripheral nervous system disease ISO RGD:1320529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 11900734 RHOBTB2 Rho related BTB domain containing 2 gene DOID:630 genetic disease ISO RGD:1320529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18298893|PMID:18835386|PMID:25741868|PMID:26740508|PMID:28492532|PMID:28856709|PMID:29276004|PMID:29768694|PMID:31780880|PMID:32337345|PMID:32581362|PMID:33504645 11900734 RHOBTB2 Rho related BTB domain containing 2 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1320529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 11900734 RHOBTB2 Rho related BTB domain containing 2 gene DOID:9009181 Developmental and Epileptic Encephalopathy 64 ISO RGD:1320529 D RGD:7240710 20190315 OMIM 11900734 RHOBTB2 Rho related BTB domain containing 2 gene DOID:9009181 Developmental and Epileptic Encephalopathy 64 ISO RGD:1320529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 64 PMID:18298893|PMID:18835386|PMID:25741868|PMID:26740508|PMID:28492532|PMID:28856709|PMID:29276004|PMID:29768694|PMID:31780880|PMID:32337345|PMID:32581362|PMID:33504645|PMID:33619735 11900752 KLHL30 kelch like family member 30 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1606872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11900752 KLHL30 kelch like family member 30 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1606872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11900752 KLHL30 kelch like family member 30 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1606872 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11900752 KLHL30 kelch like family member 30 gene DOID:1059 intellectual disability ISO RGD:1606872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11900752 KLHL30 kelch like family member 30 gene DOID:630 genetic disease ISO RGD:1606872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900752 KLHL30 kelch like family member 30 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1606872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11900765 LMAN1L lectin, mannose binding 1 like gene DOID:10283 prostate cancer ISO RGD:1321499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11900765 LMAN1L lectin, mannose binding 1 like gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1321499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11900765 LMAN1L lectin, mannose binding 1 like gene DOID:2717 Bloom syndrome ISO RGD:1321499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11900765 LMAN1L lectin, mannose binding 1 like gene DOID:5419 schizophrenia ISO RGD:1321499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11900765 LMAN1L lectin, mannose binding 1 like gene DOID:630 genetic disease ISO RGD:1321499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900765 LMAN1L lectin, mannose binding 1 like gene DOID:9256 colorectal cancer ISO RGD:1321499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 11900787 ZBED4 zinc finger BED-type containing 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1314283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 11900787 ZBED4 zinc finger BED-type containing 4 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1314283 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 11900787 ZBED4 zinc finger BED-type containing 4 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1314283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11900787 ZBED4 zinc finger BED-type containing 4 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1314283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:28492532 11900787 ZBED4 zinc finger BED-type containing 4 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1314283 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 11900787 ZBED4 zinc finger BED-type containing 4 gene DOID:1059 intellectual disability ISO RGD:1314283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11900787 ZBED4 zinc finger BED-type containing 4 gene DOID:630 genetic disease ISO RGD:1314283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900787 ZBED4 zinc finger BED-type containing 4 gene DOID:9007661 Dwarfism ISO RGD:1314283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11900809 ATP5MC2 ATP synthase membrane subunit c locus 2 gene DOID:11054 urinary bladder cancer ISO RGD:736098 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:26929985|REF_RGD_ID:14696811 11900809 ATP5MC2 ATP synthase membrane subunit c locus 2 gene DOID:4450 renal cell carcinoma ISO RGD:736098 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:21132003|REF_RGD_ID:14696812 11900809 ATP5MC2 ATP synthase membrane subunit c locus 2 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:736098 D RGD:9068941 20200609 RGD PMID:28672194|REF_RGD_ID:14696810 11900809 ATP5MC2 ATP synthase membrane subunit c locus 2 gene DOID:630 genetic disease ISO RGD:736098 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900809 ATP5MC2 ATP synthase membrane subunit c locus 2 gene DOID:9000740 ST Elevation Myocardial Infarction severity ISO RGD:736098 D RGD:9068941 20200609 RGD PMID:27441480|REF_RGD_ID:14696800 11900809 ATP5MC2 ATP synthase membrane subunit c locus 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11900809 ATP5MC2 ATP synthase membrane subunit c locus 2 gene DOID:9970 obesity ISO RGD:731824 D RGD:9068941 20200609 RGD PMID:26709097|REF_RGD_ID:11535661 11900832 SLC13A4 solute carrier family 13 member 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1345589 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11900832 SLC13A4 solute carrier family 13 member 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11900832 SLC13A4 solute carrier family 13 member 4 gene DOID:5082 liver cirrhosis ISO RGD:1345589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11900832 SLC13A4 solute carrier family 13 member 4 gene DOID:630 genetic disease ISO RGD:1345589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900832 SLC13A4 solute carrier family 13 member 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11900862 SLC16A6 solute carrier family 16 member 6 gene DOID:289 endometriosis ISO RGD:1343675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11900862 SLC16A6 solute carrier family 16 member 6 gene DOID:630 genetic disease ISO RGD:1343675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900871 DNPH1 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1603316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11900871 DNPH1 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 gene DOID:630 genetic disease ISO RGD:1603316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900871 DNPH1 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 gene DOID:905 Zellweger syndrome ISO RGD:1603316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11900879 ENPP6 ectonucleotide pyrophosphatase/phosphodiesterase 6 gene DOID:630 genetic disease ISO RGD:1323210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900891 TAF4B TATA-box binding protein associated factor 4b gene DOID:0070182 spermatogenic failure 13 ISO RGD:1319196 D RGD:7240710 20180130 OMIM 11900891 TAF4B TATA-box binding protein associated factor 4b gene DOID:0070182 spermatogenic failure 13 ISO RGD:1319196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 13 PMID:24431330 11900891 TAF4B TATA-box binding protein associated factor 4b gene DOID:1059 intellectual disability ISO RGD:1319196 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11900891 TAF4B TATA-box binding protein associated factor 4b gene DOID:630 genetic disease ISO RGD:1319196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900910 PSMG3 proteasome assembly chaperone 3 gene DOID:630 genetic disease ISO RGD:1601948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900923 TMEM270 transmembrane protein 270 gene DOID:0060041 autism spectrum disorder ISO RGD:1602434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 11900923 TMEM270 transmembrane protein 270 gene DOID:10923 sickle cell anemia ISO RGD:1602434 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 11900923 TMEM270 transmembrane protein 270 gene DOID:12849 autistic disorder ISO RGD:1602434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11900923 TMEM270 transmembrane protein 270 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1602434 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 11900923 TMEM270 transmembrane protein 270 gene DOID:1929 supravalvular aortic stenosis ISO RGD:1602434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis PMID:10627943|PMID:11175284|PMID:25205790|PMID:28277377|PMID:28492532|PMID:7557968|PMID:7611295|PMID:7726172|PMID:8968740 11900923 TMEM270 transmembrane protein 270 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11900923 TMEM270 transmembrane protein 270 gene DOID:5419 schizophrenia ISO RGD:1602434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11900923 TMEM270 transmembrane protein 270 gene DOID:8445 intestinal volvulus ISO RGD:1602434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11900923 TMEM270 transmembrane protein 270 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11900923 TMEM270 transmembrane protein 270 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1602434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11900931 MTA3 metastasis associated 1 family member 3 gene DOID:3883 Lynch syndrome ISO RGD:1315624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11900931 MTA3 metastasis associated 1 family member 3 gene DOID:630 genetic disease ISO RGD:1315624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11900931 MTA3 metastasis associated 1 family member 3 gene DOID:9007661 Dwarfism ISO RGD:1315624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11900972 DAAM1 dishevelled associated activator of morphogenesis 1 gene DOID:0060036 intrinsic cardiomyopathy ISO RGD:1312963 D RGD:9068941 20220825 MouseDO 11900972 DAAM1 dishevelled associated activator of morphogenesis 1 gene DOID:1826 epilepsy ISO RGD:1346826 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11900972 DAAM1 dishevelled associated activator of morphogenesis 1 gene DOID:630 genetic disease ISO RGD:1346826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11901006 CTSK cathepsin K gene DOID:0080006 bone development disease ISO RGD:734172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:24767306|PMID:28492532|PMID:31944631 11901006 CTSK cathepsin K gene DOID:0080038 pycnodysostosis ISO RGD:734172 D RGD:7240710 20180130 OMIM 11901006 CTSK cathepsin K gene DOID:0080038 pycnodysostosis ISO RGD:734172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pyknodysostosis PMID:10074491|PMID:10491211|PMID:10571690|PMID:10634420|PMID:10878663|PMID:11181082|PMID:12125807|PMID:12874701|PMID:15070910|PMID:16199547|PMID:17206399|PMID:17397052|PMID:19674475|PMID:20044043|PMID:20814951|PMID:21099701|PMID:21217630|PMID:21569238|PMID:22822386|PMID:23506830|PMID:23786531|PMID:24057333|PMID:24269275|PMID:24767306|PMID:25725806|PMID:25741868|PMID:26892377|PMID:27092432|PMID:27558267|PMID:28492532|PMID:29441215|PMID:29620724|PMID:29796728|PMID:30199612|PMID:31237352|PMID:33963797|PMID:7663522|PMID:8703060|PMID:8938428|PMID:9529353 11901006 CTSK cathepsin K gene DOID:0111940 immunodeficiency 42 ISO RGD:734172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11901006 CTSK cathepsin K gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:734172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11901006 CTSK cathepsin K gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:734172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11901006 CTSK cathepsin K gene DOID:10754 otitis media ISO RGD:61810 D RGD:9068941 20200609 RGD mRNA:decreased expression:middle ear PMID:15179208|REF_RGD_ID:1342442 11901006 CTSK cathepsin K gene DOID:10941 intracranial aneurysm ISO RGD:61810 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, artery PMID:18635848|REF_RGD_ID:2306495 11901006 CTSK cathepsin K gene DOID:10941 intracranial aneurysm ISO RGD:734172 D RGD:9068941 20200609 RGD protein:increased expression:brain, artery PMID:18635848|REF_RGD_ID:2306495 11901006 CTSK cathepsin K gene DOID:11476 osteoporosis ISO RGD:62102 D RGD:9068941 20200609 RGD PMID:10469835|REF_RGD_ID:734856 11901006 CTSK cathepsin K gene DOID:13533 osteopetrosis ISO RGD:62102 D RGD:9068941 20200609 RGD PMID:10469835|REF_RGD_ID:734856 11901006 CTSK cathepsin K gene DOID:1540 parathyroid carcinoma ISO RGD:734172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11901006 CTSK cathepsin K gene DOID:3068 glioblastoma ISO RGD:734172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25356585 11901006 CTSK cathepsin K gene DOID:5812 MHC class II deficiency ISO RGD:734172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11901006 CTSK cathepsin K gene DOID:630 genetic disease ISO RGD:734172 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10074491|PMID:17397052|PMID:20044043|PMID:20814951|PMID:25741868|PMID:27558267|PMID:28492532|PMID:29796728|PMID:8703060|PMID:9529353 11901006 CTSK cathepsin K gene DOID:8398 osteoarthritis ISO RGD:734172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30664745 11901006 CTSK cathepsin K gene DOID:9002457 Experimental Arthritis ISO RGD:61810 D RGD:9068941 20200609 RGD mRNA:increased expression:synovium, bone marrow PMID:15353610|REF_RGD_ID:1601025 11901006 CTSK cathepsin K gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11901018 UBR5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:0111590 Cohen syndrome ISO RGD:1605385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 11901018 UBR5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:10534 stomach cancer exacerbates ISO RGD:1605385 D RGD:9068941 20220317 RGD mRNA:increased expression:stomach (human) PMID:32934672|REF_RGD_ID:151665189 11901018 UBR5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:1612 breast cancer exacerbates ISO RGD:1605385 D RGD:9068941 20220317 RGD human gene in a mouse cell line and mouse model PMID:28330927|REF_RGD_ID:151665194 11901018 UBR5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:219 colon cancer exacerbates ISO RGD:1605385 D RGD:9068941 20220317 RGD mRNA:increased expression:colon (human) PMID:29441938|REF_RGD_ID:151665201 11901018 UBR5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:1605385 D RGD:9068941 20220317 RGD human cell line in a mouse model PMID:29296225|REF_RGD_ID:151665195 11901018 UBR5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:234 colon adenocarcinoma severity ISO RGD:1605385 D RGD:9068941 20220317 RGD human cell line in a mouse model PMID:28856538|REF_RGD_ID:151665199 11901018 UBR5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:2600 laryngeal carcinoma exacerbates ISO RGD:1605385 D RGD:9068941 20220317 RGD mRNA, protein:increased expression:larynx (human) PMID:32468011|REF_RGD_ID:151665191 11901018 UBR5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:2843 long QT syndrome ISO RGD:1605385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11901018 UBR5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:3008 invasive ductal carcinoma ISO RGD:1605385 D RGD:9068941 20200609 RGD DNA:mutation:CDS:multiple nonsynonymous mutations PMID:14871824|REF_RGD_ID:2306813 11901018 UBR5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:3717 gastric adenocarcinoma ameliorates ISO RGD:1605385 D RGD:9068941 20220317 RGD human cell line in a mouse model PMID:27590582|REF_RGD_ID:151665193 11901018 UBR5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1605385 D RGD:9068941 20220317 RGD circRNA:decreased expression:lung (human) PMID:29944885|REF_RGD_ID:151665198 11901018 UBR5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1605385 D RGD:9068941 20220317 RGD human cell line in a mouse model PMID:32867711|REF_RGD_ID:151665200 11901018 UBR5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:4948 gallbladder carcinoma ameliorates ISO RGD:1605385 D RGD:9068941 20220317 RGD human cell line in a mouse model PMID:30775814|REF_RGD_ID:151665192 11901018 UBR5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:630 genetic disease ISO RGD:1605385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901018 UBR5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1552737 D RGD:9068941 20220324 RGD PMID:32087767|REF_RGD_ID:151665344 11901081 NUAK2 NUAK family kinase 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1603952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11901081 NUAK2 NUAK family kinase 2 gene DOID:12849 autistic disorder ISO RGD:1603952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11901081 NUAK2 NUAK family kinase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1603952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11901081 NUAK2 NUAK family kinase 2 gene DOID:630 genetic disease ISO RGD:1603952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901081 NUAK2 NUAK family kinase 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1603952 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11901081 NUAK2 NUAK family kinase 2 gene DOID:9007291 Anencephaly 2 ISO RGD:1603952 D RGD:7240710 20210728 OMIM 11901081 NUAK2 NUAK family kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11901092 PF4V1 platelet factor 4 variant 1 gene DOID:630 genetic disease ISO RGD:1353530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901092 PF4V1 platelet factor 4 variant 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1353530 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11901099 EFCAB7 EF-hand calcium binding domain 7 gene DOID:1059 intellectual disability ISO RGD:1603602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11901099 EFCAB7 EF-hand calcium binding domain 7 gene DOID:630 genetic disease ISO RGD:1603602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901131 MYLK2 myosin light chain kinase 2 gene DOID:0050700 cardiomyopathy ISO RGD:737455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:11733062|PMID:22995991|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532|PMID:29247119|PMID:31333075|PMID:31568572 11901131 MYLK2 myosin light chain kinase 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 11901131 MYLK2 myosin light chain kinase 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737455 D RGD:7240710 20180130 OMIM 11901131 MYLK2 myosin light chain kinase 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:11733062|PMID:17576681|PMID:22995991|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29247119|PMID:31333075|PMID:31568572|PMID:9536098 11901131 MYLK2 myosin light chain kinase 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:11733062|PMID:17576681|PMID:22995991|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28704380|PMID:28798025|PMID:29247119|PMID:29915097|PMID:31333075|PMID:31568572|PMID:9536098 11901131 MYLK2 myosin light chain kinase 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737455 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:11733062|PMID:17576681|PMID:22995991|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28704380|PMID:28798025|PMID:29247119|PMID:29915097|PMID:31333075|PMID:31376648|PMID:31568572|PMID:34426522|PMID:9536098 11901131 MYLK2 myosin light chain kinase 2 gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:737455 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:24033266|PMID:25741868|PMID:28492532 11901131 MYLK2 myosin light chain kinase 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 11901131 MYLK2 myosin light chain kinase 2 gene DOID:14499 Fabry disease ISO RGD:737455 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:28492532 11901131 MYLK2 myosin light chain kinase 2 gene DOID:630 genetic disease ISO RGD:737455 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532 11901131 MYLK2 myosin light chain kinase 2 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:737455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 11901131 MYLK2 myosin light chain kinase 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:737455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28492532 11901131 MYLK2 myosin light chain kinase 2 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:620934 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:9005973|REF_RGD_ID:1580244 11901131 MYLK2 myosin light chain kinase 2 gene DOID:9007096 Stroke ISO RGD:737455 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Stroke PMID:23861362|PMID:25741868|PMID:28492532 11901131 MYLK2 myosin light chain kinase 2 gene DOID:9007820 Sudden Death ISO RGD:737455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:25741868|PMID:28492532 11901146 PUDP pseudouridine 5'-phosphatase gene DOID:12849 autistic disorder ISO RGD:1344399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11901146 PUDP pseudouridine 5'-phosphatase gene DOID:13938 amenorrhea ISO RGD:1344399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11901146 PUDP pseudouridine 5'-phosphatase gene DOID:1700 X-linked ichthyosis ISO RGD:1344399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recessive X-linked ichthyosis PMID:18413370|PMID:3007328|PMID:7208152 11901146 PUDP pseudouridine 5'-phosphatase gene DOID:1969 cerebral palsy ISO RGD:1344399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 11901146 PUDP pseudouridine 5'-phosphatase gene DOID:5419 schizophrenia ISO RGD:1344399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11901146 PUDP pseudouridine 5'-phosphatase gene DOID:543 dystonia ISO RGD:1344399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11901146 PUDP pseudouridine 5'-phosphatase gene DOID:630 genetic disease ISO RGD:1344399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901146 PUDP pseudouridine 5'-phosphatase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11901153 PCYOX1L prenylcysteine oxidase 1 like gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604601 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11901153 PCYOX1L prenylcysteine oxidase 1 like gene DOID:630 genetic disease ISO RGD:1604601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901153 PCYOX1L prenylcysteine oxidase 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11901153 PCYOX1L prenylcysteine oxidase 1 like gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604601 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11901176 ZNF575 zinc finger protein 575 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1312810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 11901176 ZNF575 zinc finger protein 575 gene DOID:5419 schizophrenia ISO RGD:1312810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11901176 ZNF575 zinc finger protein 575 gene DOID:630 genetic disease ISO RGD:1312810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901193 INTU inturned planar cell polarity protein gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1319793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:25741868|PMID:27158779|PMID:29068549 11901193 INTU inturned planar cell polarity protein gene DOID:0080289 orofaciodigital syndrome XVII ISO RGD:1319793 D RGD:7240710 20190315 OMIM 11901193 INTU inturned planar cell polarity protein gene DOID:0080289 orofaciodigital syndrome XVII ISO RGD:1319793 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVII | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XVII PMID:25741868|PMID:27158779|PMID:28492532 11901193 INTU inturned planar cell polarity protein gene DOID:0110722 neuronal ceroid lipofuscinosis 7 ISO RGD:1319793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 PMID:19177532|PMID:28492532 11901193 INTU inturned planar cell polarity protein gene DOID:12712 nephronophthisis ISO RGD:1319793 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:27158779|PMID:28492532 11901193 INTU inturned planar cell polarity protein gene DOID:630 genetic disease ISO RGD:1319793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11901193 INTU inturned planar cell polarity protein gene DOID:9003056 Short-Rib Thoracic Dysplasia 20 with Polydactyly ISO RGD:1319793 D RGD:7240710 20190315 OMIM 11901193 INTU inturned planar cell polarity protein gene DOID:9003056 Short-Rib Thoracic Dysplasia 20 with Polydactyly ISO RGD:1319793 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 20 with polydactyly | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7/20 with polydactyly, digenic PMID:25741868|PMID:27158779|PMID:28492532 11901193 INTU inturned planar cell polarity protein gene DOID:9003244 Mohr Syndrome ISO RGD:1319793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome II PMID:27158779 11901223 DYDC2 DPY30 domain containing 2 gene DOID:630 genetic disease ISO RGD:1352468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901234 STMN3 stathmin 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:69018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 11901234 STMN3 stathmin 3 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:69018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 11901234 STMN3 stathmin 3 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:69018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 11901234 STMN3 stathmin 3 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:69018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11901234 STMN3 stathmin 3 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:69018 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 11901234 STMN3 stathmin 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:69018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 11901234 STMN3 stathmin 3 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:69018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 11901234 STMN3 stathmin 3 gene DOID:630 genetic disease ISO RGD:69018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901234 STMN3 stathmin 3 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:69018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 11901244 CYP51A1 cytochrome P450 family 51 subfamily A member 1 gene DOID:0060669 cerebral cavernous malformation ISO RGD:1345262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 11901244 CYP51A1 cytochrome P450 family 51 subfamily A member 1 gene DOID:0081289 Antley-Bixler syndrome ISO RGD:70832 D RGD:9068941 20210226 RGD PMID:21705796|REF_RGD_ID:41412188 11901244 CYP51A1 cytochrome P450 family 51 subfamily A member 1 gene DOID:2843 long QT syndrome ISO RGD:1345262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11901244 CYP51A1 cytochrome P450 family 51 subfamily A member 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11901244 CYP51A1 cytochrome P450 family 51 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1345262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901244 CYP51A1 cytochrome P450 family 51 subfamily A member 1 gene DOID:83 cataract ISO RGD:1345262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 11901244 CYP51A1 cytochrome P450 family 51 subfamily A member 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:2481 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:16472823|REF_RGD_ID:13782194 11901244 CYP51A1 cytochrome P450 family 51 subfamily A member 1 gene DOID:9351 diabetes mellitus ISO RGD:2481 D RGD:9068941 20210219 RGD mRNA,protein:decreased expression:liver PMID:10876162|REF_RGD_ID:41412168 11901261 RANBP6 RAN binding protein 6 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1313031 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 11901261 RANBP6 RAN binding protein 6 gene DOID:630 genetic disease ISO RGD:1313031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901272 C17H17orf78 chromosome 17 C17orf78 homolog gene DOID:0060041 autism spectrum disorder ISO RGD:1602416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 11901272 C17H17orf78 chromosome 17 C17orf78 homolog gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1602416 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 11901272 C17H17orf78 chromosome 17 C17orf78 homolog gene DOID:12849 autistic disorder ISO RGD:1602416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11901272 C17H17orf78 chromosome 17 C17orf78 homolog gene DOID:5419 schizophrenia ISO RGD:1602416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11901272 C17H17orf78 chromosome 17 C17orf78 homolog gene DOID:630 genetic disease ISO RGD:1602416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901272 C17H17orf78 chromosome 17 C17orf78 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11901272 C17H17orf78 chromosome 17 C17orf78 homolog gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:1602416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 11901281 ACTL7B actin like 7B gene DOID:630 genetic disease ISO RGD:1313810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901286 EEF2KMT eukaryotic elongation factor 2 lysine methyltransferase gene DOID:0080563 congenital disorder of glycosylation Ik ISO RGD:1603258 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K PMID:14709599|PMID:14973782|PMID:17576681|PMID:20679665|PMID:22966035|PMID:23806237|PMID:24157261|PMID:25741868|PMID:26931382|PMID:27325525|PMID:28492532|PMID:28554332|PMID:34567092|PMID:9536098 11901286 EEF2KMT eukaryotic elongation factor 2 lysine methyltransferase gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1603258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:28492532 11901286 EEF2KMT eukaryotic elongation factor 2 lysine methyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1603258 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:20679665|PMID:24157261|PMID:26931382|PMID:28492532|PMID:34567092 11901286 EEF2KMT eukaryotic elongation factor 2 lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1603258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20679665|PMID:24157261|PMID:26931382|PMID:28492532|PMID:34567092 11901297 CP ceruloplasmin gene DOID:0050579 glycogen storage disease XV ISO RGD:736782 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 11901297 CP ceruloplasmin gene DOID:0050711 aceruloplasminemia ISO RGD:736782 D RGD:7240710 20180130 OMIM 11901297 CP ceruloplasmin gene DOID:0050711 aceruloplasminemia ISO RGD:736782 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deficiency of ferroxidase | ClinVar Annotator: match by term: Hypoceruloplasminemia PMID:10997552|PMID:11756598|PMID:11909923|PMID:12351628|PMID:1458725|PMID:15082597|PMID:15557511|PMID:15654567|PMID:15885371|PMID:16150804|PMID:16199547|PMID:16629161|PMID:16775387|PMID:16831606|PMID:17013908|PMID:17576681|PMID:17710675|PMID:18414213|PMID:19095659|PMID:2016084|PMID:20301666|PMID:20430895|PMID:20655381|PMID:22281056|PMID:24033266|PMID:25247888|PMID:25741868|PMID:25864092|PMID:26777753|PMID:27753142|PMID:28012953|PMID:28258281|PMID:28431603|PMID:28492532|PMID:29482220|PMID:30901137|PMID:32235485|PMID:3574673|PMID:5675426|PMID:5912351|PMID:7539672|PMID:7708681|PMID:7820540|PMID:8641692|PMID:8789443|PMID:9536098 11901297 CP ceruloplasmin gene DOID:0060041 autism spectrum disorder ISO RGD:736782 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11901297 CP ceruloplasmin gene DOID:0060541 Hermansky-Pudlak syndrome 3 ISO RGD:736782 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3 PMID:11590544|PMID:16199547|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30990103|PMID:31898847 11901297 CP ceruloplasmin gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:736782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:16629161|PMID:28492532|PMID:32235485 11901297 CP ceruloplasmin gene DOID:10591 pre-eclampsia ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18679377 11901297 CP ceruloplasmin gene DOID:114 heart disease ISO RGD:2387 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19188839|REF_RGD_ID:2314687 11901297 CP ceruloplasmin gene DOID:12119 hemosiderosis susceptibility ISO RGD:736782 D RGD:9068941 20200609 RGD DNA:splice-site mutation PMID:7539672|REF_RGD_ID:1599626 11901297 CP ceruloplasmin gene DOID:12849 autistic disorder ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15363659 11901297 CP ceruloplasmin gene DOID:1307 dementia ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12572680 11901297 CP ceruloplasmin gene DOID:13580 cholestasis ISO RGD:736782 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:29523470|REF_RGD_ID:14401716 11901297 CP ceruloplasmin gene DOID:14330 Parkinson's disease ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19159062|PMID:25758665 11901297 CP ceruloplasmin gene DOID:1826 epilepsy ISO RGD:736782 D RGD:9068941 20200609 RGD PMID:7914452|REF_RGD_ID:1358523 11901297 CP ceruloplasmin gene DOID:1838 Menkes disease ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22243965 11901297 CP ceruloplasmin gene DOID:1909 melanoma ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23792645 11901297 CP ceruloplasmin gene DOID:2316 brain ischemia ISO RGD:2387 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cerebral cortex, hippocampus PMID:18273071|REF_RGD_ID:2314688 11901297 CP ceruloplasmin gene DOID:2351 iron metabolism disease ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16988052 11901297 CP ceruloplasmin gene DOID:2352 hemochromatosis ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17258727 11901297 CP ceruloplasmin gene DOID:3021 acute kidney failure ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 11901297 CP ceruloplasmin gene DOID:326 ischemia ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15668637|PMID:18091701 11901297 CP ceruloplasmin gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:736782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:11590544|PMID:16199547|PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30990103|PMID:31064749|PMID:31898847 11901297 CP ceruloplasmin gene DOID:4724 brain edema ISO RGD:2387 D RGD:9068941 20200609 RGD PMID:16671455|REF_RGD_ID:1599627 11901297 CP ceruloplasmin gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:736782 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cholestanol storage disease PMID:25741868|PMID:28492532 11901297 CP ceruloplasmin gene DOID:5082 liver cirrhosis ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513|PMID:26396155 11901297 CP ceruloplasmin gene DOID:5113 nutritional deficiency disease ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12514262 11901297 CP ceruloplasmin gene DOID:5419 schizophrenia ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16842975 11901297 CP ceruloplasmin gene DOID:630 genetic disease ISO RGD:736782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485 11901297 CP ceruloplasmin gene DOID:684 hepatocellular carcinoma ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19229483 11901297 CP ceruloplasmin gene DOID:7148 rheumatoid arthritis ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26001728 11901297 CP ceruloplasmin gene DOID:7998 hyperthyroidism ISO RGD:2387 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18210749|REF_RGD_ID:2314689 11901297 CP ceruloplasmin gene DOID:8466 retinal degeneration ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12572680 11901297 CP ceruloplasmin gene DOID:8893 psoriasis ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12559600 11901297 CP ceruloplasmin gene DOID:893 Wilson disease ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22243965|PMID:23519153|PMID:7849148 11901297 CP ceruloplasmin gene DOID:893 Wilson disease ISO RGD:736782 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:18556333|REF_RGD_ID:14401715 11901297 CP ceruloplasmin gene DOID:893 Wilson disease treatment ISO RGD:2387 D RGD:9068941 20200609 RGD PMID:15511628|REF_RGD_ID:1554300 11901297 CP ceruloplasmin gene DOID:9000722 Animal Hepatitis ISO RGD:2387 D RGD:9068941 20200609 RGD protein:increased expression:lymph, plasma PMID:19526092|REF_RGD_ID:2314684 11901297 CP ceruloplasmin gene DOID:9001542 Albuminuria ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21752484 11901297 CP ceruloplasmin gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23792645 11901297 CP ceruloplasmin gene DOID:9002404 Systemic Hemosiderosis due to Aceruloplasminemia ISO RGD:736782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hemosiderosis, systemic, due to aceruloplasminemia PMID:1458725|PMID:16199547|PMID:16629161|PMID:28492532|PMID:3574673|PMID:5675426|PMID:5912351|PMID:7539672|PMID:7708681|PMID:8641692 11901297 CP ceruloplasmin gene DOID:9002457 Experimental Arthritis ISO RGD:2387 D RGD:9068941 20200609 RGD PMID:19205849|REF_RGD_ID:2314686 11901297 CP ceruloplasmin gene DOID:9002457 Experimental Arthritis ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19330884 11901297 CP ceruloplasmin gene DOID:9002928 Colonic Neoplasms ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23792645 11901297 CP ceruloplasmin gene DOID:9002955 Nerve Degeneration ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18804145 11901297 CP ceruloplasmin gene DOID:9004547 Thyroid Neoplasms ISO RGD:2387 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid gland PMID:19298605|REF_RGD_ID:2314685 11901297 CP ceruloplasmin gene DOID:9004866 Ataxia ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12572680 11901297 CP ceruloplasmin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2387 D RGD:9068941 20200609 RGD Protein:increased expression:plasma PMID:16947119|REF_RGD_ID:1599198 11901297 CP ceruloplasmin gene DOID:9005725 Iron Overload ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20801540 11901297 CP ceruloplasmin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 11901297 CP ceruloplasmin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11901297 CP ceruloplasmin gene DOID:9008510 Chronic Hepatitis ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 11901297 CP ceruloplasmin gene DOID:9008675 Dyskinesias ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12572680 11901297 CP ceruloplasmin gene DOID:9008746 Pasteurellaceae Infections ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16755360 11901297 CP ceruloplasmin gene DOID:9351 diabetes mellitus ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12572680 11901297 CP ceruloplasmin gene DOID:9352 type 2 diabetes mellitus ISO RGD:736782 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19834873|REF_RGD_ID:2314681 11901297 CP ceruloplasmin gene DOID:936 brain disease ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19005224 11901297 CP ceruloplasmin gene DOID:9744 type 1 diabetes mellitus ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20012460 11901297 CP ceruloplasmin gene DOID:9744 type 1 diabetes mellitus ISO RGD:736782 D RGD:9068941 20200609 RGD PMID:17603912|REF_RGD_ID:2314682 11901332 NEK1 NIMA related kinase 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1319690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:23757202|PMID:28492532|PMID:29068549 11901332 NEK1 NIMA related kinase 1 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1319690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 PMID:25741868 11901332 NEK1 NIMA related kinase 1 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1319690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 PMID:21211617|PMID:25741868 11901332 NEK1 NIMA related kinase 1 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1319690 D RGD:7240710 20180530 OMIM 11901332 NEK1 NIMA related kinase 1 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1319690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:16199547|PMID:17576681|PMID:21211617|PMID:22499340|PMID:23757202|PMID:24033266|PMID:25492405|PMID:25741868|PMID:26945885|PMID:27455347|PMID:27530628|PMID:28089114|PMID:28123176|PMID:28492532|PMID:28710492|PMID:28935222|PMID:29068549|PMID:29431110|PMID:30093141|PMID:3014367|PMID:30408610|PMID:32462798|PMID:33445179|PMID:9536098 11901332 NEK1 NIMA related kinase 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1319691 D RGD:9068941 20220825 MouseDO OMIM:263200 11901332 NEK1 NIMA related kinase 1 gene DOID:231 motor neuron disease ISO RGD:1319690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Motor neuron disease PMID:16199547|PMID:22499340|PMID:25741868|PMID:27455347|PMID:28089114|PMID:28492532|PMID:29068549|PMID:29431110 11901332 NEK1 NIMA related kinase 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1319690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 11901332 NEK1 NIMA related kinase 1 gene DOID:614 lymphopenia ISO RGD:1319690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphopenia PMID:25741868|PMID:28089114|PMID:28492532 11901332 NEK1 NIMA related kinase 1 gene DOID:630 genetic disease ISO RGD:1319690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11901332 NEK1 NIMA related kinase 1 gene DOID:65 connective tissue disease ISO RGD:1319690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:16199547|PMID:22499340|PMID:25741868|PMID:28089114|PMID:28492532|PMID:29068549 11901332 NEK1 NIMA related kinase 1 gene DOID:9007073 Cough ISO RGD:1319690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cough PMID:25741868|PMID:28089114|PMID:28492532 11901332 NEK1 NIMA related kinase 1 gene DOID:9009135 Amyotrophic Lateral Sclerosis Type 24 ISO RGD:1319690 D RGD:7240710 20230505 OMIM 11901332 NEK1 NIMA related kinase 1 gene DOID:9009135 Amyotrophic Lateral Sclerosis Type 24 ISO RGD:1319690 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 24 PMID:21211617|PMID:22499340|PMID:24033266|PMID:25741868|PMID:26945885|PMID:27455347|PMID:28089114|PMID:28123176|PMID:28492532|PMID:28935222|PMID:29068549|PMID:30408610 11901332 NEK1 NIMA related kinase 1 gene DOID:9249 Beemer-Langer syndrome ISO RGD:1319690 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome PMID:25741868|PMID:29068549 11901378 NDUFS5 NADH:ubiquinone oxidoreductase subunit S5 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1322348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11901378 NDUFS5 NADH:ubiquinone oxidoreductase subunit S5 gene DOID:630 genetic disease ISO RGD:1322348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901385 LRRK2 leucine rich repeat kinase 2 gene DOID:0050890 synucleinopathy ameliorates ISO RGD:1561168 D RGD:9068941 20221201 RGD PMID:24927544|REF_RGD_ID:13462057 11901385 LRRK2 leucine rich repeat kinase 2 gene DOID:0060180 colitis ISO RGD:1557751 D RGD:9068941 20200609 RGD PMID:21983832|REF_RGD_ID:5508401 11901385 LRRK2 leucine rich repeat kinase 2 gene DOID:0060260 ptosis ISO RGD:1353141 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31174552 11901385 LRRK2 leucine rich repeat kinase 2 gene DOID:0060368 Parkinson's disease 2 ISO RGD:1353141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Young-onset Parkinson disease PMID:15680455|PMID:15680456|PMID:15680457|PMID:15726496|PMID:15732108|PMID:15811455|PMID:15852371|PMID:15929036|PMID:15955629|PMID:16001413|PMID:16102999|PMID:16115731|PMID:16145815|PMID:16157901|PMID:16172858|PMID:16240353|PMID:16269541|PMID:16311269|PMID:16401756|PMID:16436781|PMID:16436782|PMID:16533964|PMID:16728648|PMID:16750377|PMID:16960813|PMID:16966501|PMID:16966502|PMID:17050822|PMID:17060595|PMID:17215492|PMID:17353388|PMID:17938369|PMID:18539534|PMID:18539535|PMID:18704525|PMID:18981379|PMID:18986508|PMID:19020907|PMID:19283415|PMID:20008657|PMID:20197411|PMID:20301387|PMID:21115957|PMID:21280089|PMID:21753163|PMID:21850687|PMID:22539006|PMID:22575234|PMID:23075850|PMID:23472874|PMID:24033266|PMID:24148854|PMID:24243757|PMID:25330418|PMID:25741868|PMID:26062626|PMID:26251043|PMID:26467025|PMID:28465860|PMID:28492532|PMID:28639421|PMID:29386392|PMID:29402177 11901385 LRRK2 leucine rich repeat kinase 2 gene DOID:0060371 Parkinson's disease 8 ISO RGD:1353141 D RGD:7240710 20180130 OMIM 11901385 LRRK2 leucine rich repeat kinase 2 gene DOID:0060371 Parkinson's disease 8 ISO RGD:1353141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 8 PMID:15541308|PMID:15541309|PMID:15680455|PMID:15680456|PMID:15680457|PMID:15726496|PMID:15732108|PMID:15811455|PMID:15852371|PMID:15880653|PMID:15925109|PMID:15929036|PMID:15955629|PMID:16001413|PMID:16003110|PMID:16102999|PMID:16115731|PMID:16145815|PMID:16157901|PMID:16157908|PMID:16157909|PMID:16172858|PMID:16199547|PMID:16240353|PMID:16247070|PMID:16251215|PMID:16269443|PMID:16269541|PMID:16272164|PMID:16311269|PMID:16321986|PMID:16333314|PMID:16401756|PMID:16436781|PMID:16436782|PMID:16533964|PMID:16602113|PMID:16616379|PMID:16622854|PMID:16633828|PMID:16728648|PMID:16750377|PMID:16758483|PMID:16788020|PMID:16939701|PMID:16960813|PMID:16966501|PMID:16966502|PMID:16991141|PMID:17019612|PMID:17050822|PMID:17060595|PMID:17078063|PMID:17095157|PMID:17149743|PMID:17179858|PMID:17200152|PMID:17215492|PMID:17222106|PMID:17353388|PMID:17419834|PMID:17442267|PMID:17447891|PMID:17482357|PMID:17523199|PMID:17540608|PMID:17576681|PMID:17584768|PMID:17622782|PMID:17623048|PMID:17659642|PMID:17803033|PMID:17804834|PMID:17914064|PMID:17938369|PMID:18197194|PMID:18213618|PMID:18230735|PMID:18265005|PMID:18337586|PMID:18358451|PMID:18412265|PMID:18539534|PMID:18539535|PMID:18591067|PMID:18688798|PMID:18704525|PMID:18716801|PMID:18781329|PMID:18923807|PMID:18973254|PMID:18973807|PMID:18981379|PMID:18986508|PMID:19006185|PMID:19020907|PMID:19283415|PMID:19308469|PMID:19343804|PMID:19357115|PMID:19405094|PMID:19472409|PMID:19489756|PMID:19527940|PMID:19625296|PMID:19667187|PMID:19699188|PMID:19735093|PMID:19741132|PMID:19781641|PMID:19800393|PMID:20008657|PMID:20177695|PMID:20186690|PMID:20197411|PMID:20301387|PMID:20386743|PMID:20443975|PMID:20642453|PMID:20669299|PMID:20721913|PMID:21060682|PMID:21115957|PMID:21234781|PMID:21280089|PMID:21406209|PMID:21494637|PMID:21538529|PMID:21632271|PMID:21641848|PMID:21658387|PMID:21661047|PMID:21753163|PMID:21796139|PMID:21850687|PMID:21885347|PMID:22004453|PMID:22251894|PMID:22342962|PMID:22415848|PMID:22445250|PMID:22539006|PMID:22575234|PMID:22612223|PMID:22988866|PMID:22988870|PMID:23075850|PMID:23124679|PMID:23241358|PMID:23241745|PMID:23472874|PMID:23600457|PMID:23726462|PMID:23764467|PMID:23913756|PMID:23963289|PMID:24033266|PMID:24082139|PMID:24148854|PMID:24243757|PMID:24351927|PMID:24357540|PMID:24360742|PMID:24470158|PMID:24488318|PMID:24496098|PMID:24565865|PMID:24695735|PMID:24816003|PMID:24821816|PMID:24973808|PMID:25027012|PMID:25127457|PMID:25133958|PMID:25174650|PMID:25174890|PMID:25243190|PMID:25316291|PMID:25330418|PMID:25355420|PMID:25360523|PMID:25378673|PMID:25741868|PMID:25821816|PMID:25943890|PMID:26062626|PMID:26213354|PMID:26251043|PMID:26363496|PMID:26467025|PMID:26930193|PMID:27013965|PMID:27094865|PMID:27111571|PMID:27294386|PMID:27393345|PMID:27832104|PMID:28103901|PMID:28166811|PMID:28453723|PMID:28465860|PMID:28492532|PMID:28639421|PMID:29248340|PMID:29369408|PMID:29386392|PMID:29402177|PMID:29576439|PMID:29800472|PMID:29859640|PMID:30039155|PMID:30502028|PMID:30598256|PMID:30796162|PMID:32171587|PMID:32398759|PMID:32580205|PMID:32677286|PMID:32794657|PMID:33158606|PMID:33281709|PMID:33640967|PMID:33818904|PMID:7898705|PMID:9276200|PMID:9536098 11901385 LRRK2 leucine rich repeat kinase 2 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1353141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:15541309|PMID:15680455|PMID:15680456|PMID:15680457|PMID:15726496|PMID:15732108|PMID:15811455|PMID:15852371|PMID:15929036|PMID:15955629|PMID:16001413|PMID:16102999|PMID:16115731|PMID:16145815|PMID:16157901|PMID:16172858|PMID:16240353|PMID:16269541|PMID:16311269|PMID:16401756|PMID:16436781|PMID:16436782|PMID:16533964|PMID:16728648|PMID:16750377|PMID:16960813|PMID:16966501|PMID:16966502|PMID:17050822|PMID:17060595|PMID:17215492|PMID:17353388|PMID:17938369|PMID:18539534|PMID:18539535|PMID:18704525|PMID:18981379|PMID:18986508|PMID:19020907|PMID:19283415|PMID:20008657|PMID:20197411|PMID:20301387|PMID:21115957|PMID:21280089|PMID:21538529|PMID:21753163|PMID:21850687|PMID:22539006|PMID:22575234|PMID:23075850|PMID:23472874|PMID:24033266|PMID:24148854|PMID:24243757|PMID:24565865|PMID:24660942|PMID:25330418|PMID:25741868|PMID:26062626|PMID:26251043|PMID:26467025|PMID:27111571|PMID:28465860|PMID:28492532|PMID:28639421|PMID:29386392|PMID:29402177 11901385 LRRK2 leucine rich repeat kinase 2 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1353141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant PMID:18412265|PMID:18688798|PMID:18716801|PMID:18781329|PMID:19699188|PMID:20301387|PMID:20642453|PMID:21885347|PMID:25243190|PMID:26930193|PMID:28492532 11901385 LRRK2 leucine rich repeat kinase 2 gene DOID:0080855 Parkinsonism ISO RGD:1353141 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23046578|PMID:25017139|PMID:26558463 11901385 LRRK2 leucine rich repeat kinase 2 gene DOID:0080855 Parkinsonism ISO RGD:1353141 D RGD:9068941 20200609 RGD PMID:20729864|REF_RGD_ID:5508414 11901385 LRRK2 leucine rich repeat kinase 2 gene DOID:0110042 Alzheimer's disease 3 ISO RGD:1353141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance PMID:18412265|PMID:18688798|PMID:18716801|PMID:18781329|PMID:19699188|PMID:20301387|PMID:20642453|PMID:21885347|PMID:25243190|PMID:26930193|PMID:28492532 11901385 LRRK2 leucine rich repeat kinase 2 gene DOID:1024 leprosy ISO RGD:1353141 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 PMID:26467025|PMID:28492532 11901385 LRRK2 leucine rich repeat kinase 2 gene DOID:1289 neurodegenerative disease ISO RGD:1561168 D RGD:9068941 20200609 RGD PMID:24927544|REF_RGD_ID:13462057 11901385 LRRK2 leucine rich repeat kinase 2 gene DOID:14330 Parkinson's disease ISO RGD:1353141 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Dominant | ClinVar Annotator: match by term: Parkinson disease PMID:16172858|PMID:16633828|PMID:17019612|PMID:17659642|PMID:18688798|PMID:18704525|PMID:19357115|PMID:19741132|PMID:19800393|PMID:20186690|PMID:20301387|PMID:22612223|PMID:24033266|PMID:25027012|PMID:25243190|PMID:25741868|PMID:26467025|PMID:28103901|PMID:28492532 11901385 LRRK2 leucine rich repeat kinase 2 gene DOID:14330 Parkinson's disease no_association ISO RGD:1353141 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G2019S (human) PMID:21483109|REF_RGD_ID:5508406 11901385 LRRK2 leucine rich repeat kinase 2 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1353141 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R1398H (human) PMID:21159540|REF_RGD_ID:5508409 11901385 LRRK2 leucine rich repeat kinase 2 gene DOID:162 cancer susceptibility ISO RGD:1353141 D RGD:9068941 20200609 RGD associated with Parkinson Disease;DNA:missense mutation:cds:p.G2019S (human) PMID:20818610|REF_RGD_ID:5508410 11901385 LRRK2 leucine rich repeat kinase 2 gene DOID:289 endometriosis ISO RGD:1353141 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11901385 LRRK2 leucine rich repeat kinase 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1353141 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:21375368|REF_RGD_ID:5508417 11901385 LRRK2 leucine rich repeat kinase 2 gene DOID:4450 renal cell carcinoma ISO RGD:1353141 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 11901385 LRRK2 leucine rich repeat kinase 2 gene DOID:630 genetic disease ISO RGD:1353141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15541309|PMID:15680455|PMID:15680456|PMID:15680457|PMID:15726496|PMID:15732108|PMID:15811455|PMID:15852371|PMID:15880653|PMID:15929036|PMID:15955629|PMID:16001413|PMID:16102999|PMID:16115731|PMID:16145815|PMID:16157901|PMID:16157908|PMID:16172858|PMID:16240353|PMID:16251215|PMID:16269443|PMID:16269541|PMID:16311269|PMID:16333314|PMID:16401756|PMID:16436781|PMID:16436782|PMID:16533964|PMID:16602113|PMID:16622854|PMID:16728648|PMID:16750377|PMID:16758483|PMID:16939701|PMID:16960813|PMID:16966501|PMID:16966502|PMID:17050822|PMID:17060595|PMID:17078063|PMID:17215492|PMID:17353388|PMID:17803033|PMID:17938369|PMID:18213618|PMID:18539534|PMID:18539535|PMID:18704525|PMID:18981379|PMID:18986508|PMID:19020907|PMID:19283415|PMID:19357115|PMID:19472409|PMID:19489756|PMID:19527940|PMID:20008657|PMID:20197411|PMID:20301387|PMID:20669299|PMID:21115957|PMID:21234781|PMID:21280089|PMID:21753163|PMID:21850687|PMID:21885347|PMID:22445250|PMID:22539006|PMID:22575234|PMID:23075850|PMID:23472874|PMID:24033266|PMID:24148854|PMID:24243757|PMID:24816003|PMID:25330418|PMID:25741868|PMID:26062626|PMID:26251043|PMID:26467025|PMID:28465860|PMID:28492532|PMID:28639421|PMID:29386392|PMID:29402177|PMID:33158606 11901385 LRRK2 leucine rich repeat kinase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1353141 D RGD:9068941 20200609 RGD PMID:17082220|REF_RGD_ID:5508419 11901385 LRRK2 leucine rich repeat kinase 2 gene DOID:8778 Crohn's disease ISO RGD:1353141 D RGD:9068941 20200609 RGD DNA:point mutation: :p.T2397M (rs3761863) (human) PMID:21983832|REF_RGD_ID:5508401 11901385 LRRK2 leucine rich repeat kinase 2 gene DOID:9000071 Signs and Symptoms ISO RGD:1353141 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31174552 11901385 LRRK2 leucine rich repeat kinase 2 gene DOID:9001981 Weight Loss ISO RGD:1353141 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31174552 11901385 LRRK2 leucine rich repeat kinase 2 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1353141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar atrophy PMID:18412265|PMID:18688798|PMID:18716801|PMID:18781329|PMID:19699188|PMID:20301387|PMID:20642453|PMID:21885347|PMID:25243190|PMID:26930193|PMID:28492532 11901385 LRRK2 leucine rich repeat kinase 2 gene DOID:9002955 Nerve Degeneration ISO RGD:1353141 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19741132 11901385 LRRK2 leucine rich repeat kinase 2 gene DOID:9008297 Motor Disorders ISO RGD:1353141 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31174552 11901385 LRRK2 leucine rich repeat kinase 2 gene DOID:9008514 Psychomotor Disorders ISO RGD:1353141 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31174552 11901385 LRRK2 leucine rich repeat kinase 2 gene DOID:9255 frontotemporal dementia ISO RGD:1353141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia 11901385 LRRK2 leucine rich repeat kinase 2 gene DOID:9743 diabetic neuropathy ISO RGD:1561168 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:cerebellum, Purkinje cell PMID:24810053|REF_RGD_ID:13462056 11901441 LOC100991353 caspase-4 gene DOID:0080600 COVID-19 ISO RGD:1343162 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11901441 LOC100991353 caspase-4 gene DOID:1059 intellectual disability ISO RGD:1343162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11901441 LOC100991353 caspase-4 gene DOID:12704 ataxia telangiectasia ISO RGD:1343162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11901441 LOC100991353 caspase-4 gene DOID:5419 schizophrenia ISO RGD:1343162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 11901441 LOC100991353 caspase-4 gene DOID:630 genetic disease ISO RGD:1343162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901441 LOC100991353 caspase-4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11901441 LOC100991353 caspase-4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1343162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11901454 PPP1R35 protein phosphatase 1 regulatory subunit 35 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11901454 PPP1R35 protein phosphatase 1 regulatory subunit 35 gene DOID:630 genetic disease ISO RGD:1604503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901462 LOC100992550 histone H2A type 1-B gene DOID:630 genetic disease ISO RGD:1345991 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901467 TRIM64C tripartite motif containing 64C gene DOID:1059 intellectual disability ISO RGD:2311727 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Intellectual disability 11901467 TRIM64C tripartite motif containing 64C gene DOID:630 genetic disease ISO RGD:2311727 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901494 SLC22A14 solute carrier family 22 member 14 gene DOID:0050451 Brugada syndrome ISO RGD:1315106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 11901494 SLC22A14 solute carrier family 22 member 14 gene DOID:630 genetic disease ISO RGD:1315106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901494 SLC22A14 solute carrier family 22 member 14 gene DOID:9001436 Immunodeficiency 68 ISO RGD:1315106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY PMID:28492532 11901494 SLC22A14 solute carrier family 22 member 14 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1315106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 11901511 C5H5orf22 chromosome 5 C5orf22 homolog gene DOID:630 genetic disease ISO RGD:1605070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901511 C5H5orf22 chromosome 5 C5orf22 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11901528 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0060017 CD3epsilon deficiency ISO RGD:1317575 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11901528 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0060796 hypomyelinating leukodystrophy 12 ISO RGD:1317575 D RGD:7240710 20190315 OMIM 11901528 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0060796 hypomyelinating leukodystrophy 12 ISO RGD:1317575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 12 PMID:25741868|PMID:26307567|PMID:27120463|PMID:27473128|PMID:28492532|PMID:32316234 11901528 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1317575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11901528 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0080690 RASopathy ISO RGD:1317575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11901528 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0081330 glycogen storage disease Ib ISO RGD:1317575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 11901528 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0110651 long QT syndrome 10 ISO RGD:1317575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11901528 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1317575 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11901528 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0111971 immunodeficiency 18 ISO RGD:1317575 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11901528 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0111972 immunodeficiency 19 ISO RGD:1317575 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11901528 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0111973 immunodeficiency 17 ISO RGD:1317575 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11901528 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:5419 schizophrenia ISO RGD:1317575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11901528 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:630 genetic disease ISO RGD:1317575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11901528 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:9000126 Dystonia 32 ISO RGD:1317575 D RGD:7240710 20211222 OMIM 11901528 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:9000126 Dystonia 32 ISO RGD:1317575 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dystonia 32 PMID:25741868|PMID:28492532|PMID:33452836 11901528 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:9002704 Leukoencephalopathies ISO RGD:1317575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy PMID:25741868|PMID:26307567|PMID:27120463|PMID:32316234 11901528 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1317575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11901528 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:9007661 Dwarfism ISO RGD:1317575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11901552 LOC100995989 cytochrome c oxidase assembly protein COX19 gene DOID:630 genetic disease ISO RGD:1604553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901574 GET1 guided entry of tail-anchored proteins factor 1 gene DOID:12849 autistic disorder ISO RGD:1352136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11901574 GET1 guided entry of tail-anchored proteins factor 1 gene DOID:630 genetic disease ISO RGD:1352136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901574 GET1 guided entry of tail-anchored proteins factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352136 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11901625 NAT8 N-acetyltransferase 8 (putative) gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1350744 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11901625 NAT8 N-acetyltransferase 8 (putative) gene DOID:543 dystonia ISO RGD:1350744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11901625 NAT8 N-acetyltransferase 8 (putative) gene DOID:630 genetic disease ISO RGD:1350744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901625 NAT8 N-acetyltransferase 8 (putative) gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1350744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11901625 NAT8 N-acetyltransferase 8 (putative) gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11901631 CLTA clathrin light chain A gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:733774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11901631 CLTA clathrin light chain A gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:733774 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11901631 CLTA clathrin light chain A gene DOID:0080600 COVID-19 ISO RGD:733774 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11901631 CLTA clathrin light chain A gene DOID:0080942 anauxetic dysplasia ISO RGD:733774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11901631 CLTA clathrin light chain A gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:733774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11901631 CLTA clathrin light chain A gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:733774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11901631 CLTA clathrin light chain A gene DOID:630 genetic disease ISO RGD:733774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901631 CLTA clathrin light chain A gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:733774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11901631 CLTA clathrin light chain A gene DOID:9562 primary ciliary dyskinesia ISO RGD:733774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11901631 CLTA clathrin light chain A gene DOID:9870 galactosemia ISO RGD:733774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11901646 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:0050572 cone-rod dystrophy ISO RGD:1343997 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:19668216|PMID:23034536|PMID:23386033|PMID:25741868|PMID:26092869|PMID:28492532|PMID:29146704|PMID:29186038|PMID:34188062 11901646 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:0050572 cone-rod dystrophy ISO RGD:1343997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:19668216|PMID:23034536|PMID:23386033|PMID:23847139|PMID:25741868|PMID:25999675|PMID:26092869|PMID:28125082|PMID:28492532|PMID:28559085|PMID:29146704|PMID:29186038|PMID:31456290|PMID:34188062 11901646 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:0050777 Joubert syndrome ISO RGD:1343997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:10577920|PMID:15786477|PMID:16025100|PMID:17576681|PMID:18414213|PMID:19597493|PMID:19668215|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:23847139|PMID:24257694|PMID:25132448|PMID:25516202|PMID:25741868|PMID:25818971|PMID:25963545|PMID:25999675|PMID:26092869|PMID:26748598|PMID:26820064|PMID:27081510|PMID:27401686|PMID:28125082|PMID:28454995|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28771248|PMID:29052317|PMID:29146704|PMID:29186038|PMID:29230161|PMID:29555955|PMID:29915382|PMID:29987673|PMID:30202406|PMID:31456290|PMID:31589614|PMID:32304219|PMID:33270637|PMID:33749171|PMID:34188062|PMID:9536098 11901646 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1343997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11901646 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1343997 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11901646 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1343997 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11901646 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1343997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11901646 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1343997 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11901646 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1343997 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11901646 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:0081097 Rafiq syndrome ISO RGD:1343997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11901646 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:0110980 Joubert syndrome 1 ISO RGD:1343997 D RGD:7240710 20180130 OMIM 11901646 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:0110980 Joubert syndrome 1 ISO RGD:1343997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 PMID:10577920|PMID:15786477|PMID:17576681|PMID:18414213|PMID:19668215|PMID:19668216|PMID:23034536|PMID:23386033|PMID:23847139|PMID:25133751|PMID:25741868|PMID:25818971|PMID:25999675|PMID:26092869|PMID:27081510|PMID:28125082|PMID:28454995|PMID:28492532|PMID:28559085|PMID:28771248|PMID:29052317|PMID:29186038|PMID:29230161|PMID:29555955|PMID:29915382|PMID:29987673|PMID:30202406|PMID:31589614|PMID:33270637|PMID:9536098 11901646 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:0110980 Joubert syndrome 1 ISO RGD:1343997 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 PMID:15786477|PMID:18414213|PMID:19668216|PMID:25741868|PMID:26092869|PMID:27081510|PMID:28454995|PMID:28492532|PMID:28559085|PMID:28771248|PMID:29186038|PMID:29915382 11901646 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:0110980 Joubert syndrome 1 ISO RGD:1343997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Joubert syndrome 1 PMID:10577920|PMID:15786477|PMID:17576681|PMID:18414213|PMID:19668215|PMID:19668216|PMID:23034536|PMID:23386033|PMID:23847139|PMID:24257694|PMID:25741868|PMID:25818971|PMID:25920555|PMID:25999675|PMID:26092869|PMID:26748598|PMID:27081510|PMID:27401686|PMID:28125082|PMID:28454995|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28771248|PMID:29052317|PMID:29146704|PMID:29186038|PMID:29230161|PMID:29555955|PMID:29915382|PMID:29987673|PMID:30202406|PMID:31456290|PMID:31506345|PMID:31589614|PMID:32304219|PMID:33270637|PMID:33749171|PMID:34188062|PMID:9536098 11901646 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:0110980 Joubert syndrome 1 ISO RGD:1343997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 1 PMID:15786477|PMID:18414213|PMID:19668216|PMID:23034536|PMID:23386033|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26092869|PMID:26748598|PMID:27081510|PMID:27401686|PMID:28454995|PMID:28492532|PMID:28559085|PMID:28771248|PMID:29052317|PMID:29186038|PMID:29230161|PMID:29915382|PMID:30202406|PMID:31506345|PMID:33749171|PMID:34188062 11901646 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:1059 intellectual disability ISO RGD:1343997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19668215 11901646 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:11836 clubfoot ISO RGD:1343997 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:15786477|PMID:19668216|PMID:25741868|PMID:26748598|PMID:27401686|PMID:28492532|PMID:29186038|PMID:33749171|PMID:34188062 11901646 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1343997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 11901646 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:14791 Leber congenital amaurosis ISO RGD:1343997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:23034536|PMID:23386033|PMID:25741868|PMID:28492532|PMID:28559085|PMID:29146704|PMID:29186038|PMID:31456290|PMID:34188062 11901646 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:1529 penile disease ISO RGD:1343997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19668215 11901646 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:3652 Leigh disease ISO RGD:1343997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11901646 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:630 genetic disease ISO RGD:1343997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10577920|PMID:15786477|PMID:19668216|PMID:25741868|PMID:26748598|PMID:27081510|PMID:27401686|PMID:28454995|PMID:28492532|PMID:28559085|PMID:28771248|PMID:29186038|PMID:29915382|PMID:33749171|PMID:34188062 11901646 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:8501 fundus dystrophy ISO RGD:1343997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15786477|PMID:19668216|PMID:23034536|PMID:23386033|PMID:25741868|PMID:25818971|PMID:26092869|PMID:28125082|PMID:28492532|PMID:29186038|PMID:29230161|PMID:30202406|PMID:34188062 11901646 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:9001591 Ciliary Motility Disorders ISO RGD:1343997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19668215|PMID:19668216 11901646 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:9002525 Hereditary Eye Diseases ISO RGD:1343997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19668215 11901646 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:9005249 Immunodeficiency 103 ISO RGD:1343997 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS PMID:28492532 11901646 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1343997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 11901646 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:9006992 MORM Syndrome ISO RGD:1343997 D RGD:7240710 20180130 OMIM 11901646 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:9006992 MORM Syndrome ISO RGD:1343997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MORM syndrome PMID:19668215|PMID:19668216|PMID:23034536|PMID:23847139|PMID:25741868|PMID:28492532|PMID:28559085|PMID:29186038|PMID:34188062 11901646 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:9970 obesity ISO RGD:1332343 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle, white adipose tissue PMID:23349329|REF_RGD_ID:12911211 11901646 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:9970 obesity ISO RGD:1343997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19668215 11901646 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:9970 obesity treatment ISO RGD:620478 D RGD:9068941 20200609 RGD PMID:23349329|REF_RGD_ID:12911211 11901658 ARL5A ADP ribosylation factor like GTPase 5A gene DOID:0110928 nemaline myopathy 2 ISO RGD:1346010 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25205138|PMID:28492532 11901658 ARL5A ADP ribosylation factor like GTPase 5A gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1346010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11901658 ARL5A ADP ribosylation factor like GTPase 5A gene DOID:630 genetic disease ISO RGD:1346010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901668 EML1 EMAP like 1 gene DOID:0111169 subcortical band heterotopia ISO RGD:1343308 D RGD:7240710 20190315 OMIM 11901668 EML1 EMAP like 1 gene DOID:0111169 subcortical band heterotopia ISO RGD:1343308 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Band heterotopia of brain PMID:24859200|PMID:25741868|PMID:28492532|PMID:28556411 11901668 EML1 EMAP like 1 gene DOID:2490 congenital nervous system abnormality ISO RGD:1314955 D RGD:9068941 20220825 MouseDO 11901668 EML1 EMAP like 1 gene DOID:630 genetic disease ISO RGD:1343308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11901702 FCER2 Fc epsilon receptor II gene DOID:0080490 mucolipidosis type IV ISO RGD:1354370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11901702 FCER2 Fc epsilon receptor II gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1354370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 11901702 FCER2 Fc epsilon receptor II gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1354370 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 11901702 FCER2 Fc epsilon receptor II gene DOID:14330 Parkinson's disease ISO RGD:1354370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 11901702 FCER2 Fc epsilon receptor II gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1354370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11500085 11901702 FCER2 Fc epsilon receptor II gene DOID:630 genetic disease ISO RGD:1354370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901702 FCER2 Fc epsilon receptor II gene DOID:9002850 Immediate Hypersensitivity ISO RGD:1354370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22967010 11901702 FCER2 Fc epsilon receptor II gene DOID:9588 encephalitis ISO RGD:1354370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11500085 11901714 APBB1IP amyloid beta precursor protein binding family B member 1 interacting protein gene DOID:630 genetic disease ISO RGD:1312445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901714 APBB1IP amyloid beta precursor protein binding family B member 1 interacting protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11901734 FAM110B family with sequence similarity 110 member B gene DOID:630 genetic disease ISO RGD:1605314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901752 SHISA7 shisa family member 7 gene DOID:630 genetic disease ISO RGD:3160565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901760 EHF ETS homologous factor gene DOID:1059 intellectual disability ISO RGD:1321091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11901760 EHF ETS homologous factor gene DOID:630 genetic disease ISO RGD:1321091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901760 EHF ETS homologous factor gene DOID:7693 abdominal aortic aneurysm treatment ISO RGD:1310282 D RGD:9068941 20200609 RGD PMID:14662712|REF_RGD_ID:1581123 11901760 EHF ETS homologous factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11901783 CACNG5 calcium voltage-gated channel auxiliary subunit gamma 5 gene DOID:630 genetic disease ISO RGD:734378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901795 RETREG2 reticulophagy regulator family member 2 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1315689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11901795 RETREG2 reticulophagy regulator family member 2 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1315689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11901795 RETREG2 reticulophagy regulator family member 2 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1315689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11901795 RETREG2 reticulophagy regulator family member 2 gene DOID:1148 polydactyly ISO RGD:1315689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 11901795 RETREG2 reticulophagy regulator family member 2 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1315689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11901795 RETREG2 reticulophagy regulator family member 2 gene DOID:630 genetic disease ISO RGD:1315689 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901795 RETREG2 reticulophagy regulator family member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11901808 LBR lamin B receptor gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:736984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome PMID:25741868|PMID:28492532|PMID:28600779|PMID:29068549 11901808 LBR lamin B receptor gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:736984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:25741868|PMID:28492532|PMID:28600779|PMID:29068549 11901808 LBR lamin B receptor gene DOID:0111588 Greenberg dysplasia ISO RGD:736984 D RGD:7240710 20180130 OMIM 11901808 LBR lamin B receptor gene DOID:0111588 Greenberg dysplasia ISO RGD:736984 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia PMID:14684697|PMID:18382993|PMID:20522425|PMID:21327084|PMID:23824842|PMID:24033266|PMID:25348816|PMID:25741868|PMID:26467025|PMID:27336722|PMID:27830109|PMID:27875746|PMID:28492532|PMID:30448303|PMID:30518689|PMID:30561119|PMID:32827848|PMID:34567078 11901808 LBR lamin B receptor gene DOID:12236 primary biliary cholangitis ISO RGD:736984 D RGD:9068941 20200609 RGD PMID:8550049|REF_RGD_ID:9588625 11901808 LBR lamin B receptor gene DOID:1540 parathyroid carcinoma ISO RGD:736984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11901808 LBR lamin B receptor gene DOID:1702 ichthyosis vulgaris ISO RGD:732448 D RGD:9068941 20220825 MouseDO OMIM:146700 11901808 LBR lamin B receptor gene DOID:614 lymphopenia ISO RGD:732448 D RGD:9068941 20200609 RGD DNA:point mutation PMID:22105998|REF_RGD_ID:11062006 11901808 LBR lamin B receptor gene DOID:630 genetic disease ISO RGD:736984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20522425|PMID:25741868|PMID:26467025|PMID:27875746|PMID:28492532 11901808 LBR lamin B receptor gene DOID:65 connective tissue disease ISO RGD:736984 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:26467025|PMID:27875746|PMID:28492532|PMID:32827848 11901808 LBR lamin B receptor gene DOID:9001031 Retrognathia ISO RGD:736984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retrognathia PMID:25741868|PMID:26938784 11901808 LBR lamin B receptor gene DOID:9003114 Reynolds Syndrome ISO RGD:736984 D RGD:7240710 20180130 OMIM 11901808 LBR lamin B receptor gene DOID:9003114 Reynolds Syndrome ISO RGD:736984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA | ClinVar Annotator: match by term: Reynolds syndrome PMID:18382993|PMID:20522425|PMID:24033266|PMID:25348816|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32827848 11901808 LBR lamin B receptor gene DOID:9006936 Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia ISO RGD:736984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia PMID:18382993|PMID:25348816|PMID:25741868|PMID:28492532 11901808 LBR lamin B receptor gene DOID:9009255 PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES ISO RGD:736984 D RGD:7240710 20190315 OMIM 11901808 LBR lamin B receptor gene DOID:9009255 PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES ISO RGD:736984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES | ClinVar Annotator: match by term: RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY PMID:18382993|PMID:23824842|PMID:25348816|PMID:25741868|PMID:28492532|PMID:28600779|PMID:29068549|PMID:30448303|PMID:32827848|PMID:34567078 11901808 LBR lamin B receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:732448 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 11901808 LBR lamin B receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11901808 LBR lamin B receptor gene DOID:9631 Pelger-Huet anomaly ISO RGD:736984 D RGD:7240710 20180130 OMIM 11901808 LBR lamin B receptor gene DOID:9631 Pelger-Huet anomaly ISO RGD:736984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities | ClinVar Annotator: match by term: Pelger-Huet Anomaly | ClinVar Annotator: match by term: Pelger-Huët anomaly PMID:12118250|PMID:14617022|PMID:18382993|PMID:21327084|PMID:23824842|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26938784|PMID:27336722|PMID:27830109|PMID:28492532|PMID:30448303|PMID:32827848|PMID:34567078 11901808 LBR lamin B receptor gene DOID:9631 Pelger-Huet anomaly susceptibility ISO RGD:736984 D RGD:9068941 20200609 RGD DNA:splice-site mutations, frameshift mutations, nonsense mutations PMID:12118250|REF_RGD_ID:1600215 11901826 LOC100995379 olfactory receptor 10H4 gene DOID:630 genetic disease ISO RGD:1344881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901849 CCIN calicin gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1343153 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11901849 CCIN calicin gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1343153 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11901849 CCIN calicin gene DOID:0080942 anauxetic dysplasia ISO RGD:1343153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11901849 CCIN calicin gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1343153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11901849 CCIN calicin gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1343153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11901849 CCIN calicin gene DOID:630 genetic disease ISO RGD:1343153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901849 CCIN calicin gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1343153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11901849 CCIN calicin gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343153 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11901849 CCIN calicin gene DOID:9870 galactosemia ISO RGD:1343153 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11901861 MS4A2 membrane spanning 4-domains A2 gene DOID:0060500 drug allergy ISO RGD:1350065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16839402|PMID:18534082|PMID:20485159 11901861 MS4A2 membrane spanning 4-domains A2 gene DOID:0080600 COVID-19 ISO RGD:1350065 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11901861 MS4A2 membrane spanning 4-domains A2 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1350065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 11901861 MS4A2 membrane spanning 4-domains A2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11901861 MS4A2 membrane spanning 4-domains A2 gene DOID:1059 intellectual disability ISO RGD:1350065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11901861 MS4A2 membrane spanning 4-domains A2 gene DOID:2841 asthma susceptibility ISO RGD:1350065 D RGD:9068941 20200609 RGD Atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:polymorphism:CDS:amino acid E237G PMID:8817330|REF_RGD_ID:1599903 11901861 MS4A2 membrane spanning 4-domains A2 gene DOID:2841 asthma susceptibility ISO RGD:1350065 D RGD:9068941 20200609 RGD DNA:SNP: : -109C>T (human) PMID:19862939|REF_RGD_ID:5131092 11901861 MS4A2 membrane spanning 4-domains A2 gene DOID:2841 asthma susceptibility ISO RGD:1350065 D RGD:9068941 20200609 RGD DNA:SNPs: : rs556917, rs502581, rs502419 (human) PMID:21320344|REF_RGD_ID:5131149 11901861 MS4A2 membrane spanning 4-domains A2 gene DOID:2841 asthma susceptibility ISO RGD:1350065 D RGD:9068941 20200609 RGD DNA:SNPs:multiple:, rs573790, rs2583476, rs569108 PMID:19218813|REF_RGD_ID:5131151 11901861 MS4A2 membrane spanning 4-domains A2 gene DOID:3310 atopic dermatitis susceptibility ISO RGD:1350065 D RGD:9068941 20200609 RGD Atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:polymorphism:CDS:amino acid E237G PMID:8817330|REF_RGD_ID:1599903 11901861 MS4A2 membrane spanning 4-domains A2 gene DOID:4483 rhinitis ISO RGD:1350065 D RGD:9068941 20200609 RGD PMID:15480314|REF_RGD_ID:5131152 11901861 MS4A2 membrane spanning 4-domains A2 gene DOID:630 genetic disease ISO RGD:1350065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901861 MS4A2 membrane spanning 4-domains A2 gene DOID:9000772 Bronchial Hyperreactivity susceptibility ISO RGD:1350065 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS: E237G (human) PMID:17430357|REF_RGD_ID:5131116 11901861 MS4A2 membrane spanning 4-domains A2 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:1350065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 11901861 MS4A2 membrane spanning 4-domains A2 gene DOID:9002850 Immediate Hypersensitivity susceptibility ISO RGD:1350065 D RGD:9068941 20200609 RGD Atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:polymorphism:CDS:amino acid E237G PMID:8817330|REF_RGD_ID:1599903 11901861 MS4A2 membrane spanning 4-domains A2 gene DOID:9003157 Respiratory Sounds ISO RGD:1350065 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS: E237G (human) PMID:18269668|REF_RGD_ID:5131102 11901861 MS4A2 membrane spanning 4-domains A2 gene DOID:9008727 Ige Responsiveness, Atopic ISO RGD:1350065 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 11901861 MS4A2 membrane spanning 4-domains A2 gene DOID:9008727 Ige Responsiveness, Atopic susceptibility ISO RGD:1350065 D RGD:7240710 20230505 OMIM 11901873 TSHB thyroid stimulating hormone subunit beta gene DOID:0050328 congenital hypothyroidism ISO RGD:732605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:25741868 11901873 TSHB thyroid stimulating hormone subunit beta gene DOID:0070123 congenital nongoitrous hypothyroidism 4 ISO RGD:732605 D RGD:7240710 20180130 OMIM 11901873 TSHB thyroid stimulating hormone subunit beta gene DOID:0070123 congenital nongoitrous hypothyroidism 4 ISO RGD:732605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pituitary cretinism PMID:11297590|PMID:11549695|PMID:11788671|PMID:12364478|PMID:15292359|PMID:15297803|PMID:1971148|PMID:22606512|PMID:24423284|PMID:25741868|PMID:25950606|PMID:26416826|PMID:27362444|PMID:27387040|PMID:2792087|PMID:28492532|PMID:31166470|PMID:8636437|PMID:9589689 11901873 TSHB thyroid stimulating hormone subunit beta gene DOID:0080690 RASopathy ISO RGD:732605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11901873 TSHB thyroid stimulating hormone subunit beta gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:732605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 11901873 TSHB thyroid stimulating hormone subunit beta gene DOID:12361 Graves' disease ISO RGD:732605 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 11901873 TSHB thyroid stimulating hormone subunit beta gene DOID:1459 hypothyroidism ISO RGD:732605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: TSH deficiency PMID:11297590|PMID:11549695|PMID:11788671|PMID:12364478|PMID:15292359|PMID:15297803|PMID:1971148|PMID:22606512|PMID:24423284|PMID:25741868|PMID:25950606|PMID:26416826|PMID:27362444|PMID:27387040|PMID:2792087|PMID:28492532|PMID:31166470|PMID:8636437|PMID:9589689 11901873 TSHB thyroid stimulating hormone subunit beta gene DOID:2945 severe acute respiratory syndrome ISO RGD:732605 D RGD:9068941 20200609 RGD protein:decreased expression:adenohypophysis (human) PMID:20651845|REF_RGD_ID:28711759 11901873 TSHB thyroid stimulating hormone subunit beta gene DOID:3312 bipolar disorder ISO RGD:732605 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6455462 11901873 TSHB thyroid stimulating hormone subunit beta gene DOID:4195 hyperglycemia ISO RGD:732605 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:7956715|REF_RGD_ID:1624160 11901873 TSHB thyroid stimulating hormone subunit beta gene DOID:630 genetic disease ISO RGD:732605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901873 TSHB thyroid stimulating hormone subunit beta gene DOID:9000366 Isolated Thyrotropin Deficiency ISO RGD:732605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thyrotropin deficiency, isolated PMID:11297590|PMID:11549695|PMID:11788671|PMID:12364478|PMID:15292359|PMID:15297803|PMID:1971148|PMID:22606512|PMID:24423284|PMID:25741868|PMID:25950606|PMID:26416826|PMID:27362444|PMID:27387040|PMID:2792087|PMID:28492532|PMID:31166470|PMID:8636437|PMID:9589689 11901873 TSHB thyroid stimulating hormone subunit beta gene DOID:9002395 Hypothermia ISO RGD:732605 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 11901873 TSHB thyroid stimulating hormone subunit beta gene DOID:9006462 Coma ISO RGD:732605 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24729111 11901880 PLCB1 phospholipase C beta 1 gene DOID:0050562 West syndrome ISO RGD:733094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive | ClinVar Annotator: match by term: Infantile spasms PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532 11901880 PLCB1 phospholipase C beta 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:733094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19805378 11901880 PLCB1 phospholipase C beta 1 gene DOID:0050908 myelodysplastic syndrome severity ISO RGD:733094 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone marrow, blood, mononuclear cell (human) PMID:16820933|REF_RGD_ID:11535164 11901880 PLCB1 phospholipase C beta 1 gene DOID:0050908 myelodysplastic syndrome treatment ISO RGD:733094 D RGD:9068941 20200609 RGD PMID:21109771|REF_RGD_ID:11535956 11901880 PLCB1 phospholipase C beta 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:733094 D RGD:7240710 20180130 OMIM 11901880 PLCB1 phospholipase C beta 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:733094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:16199547|PMID:17576681|PMID:18414213|PMID:20833646|PMID:22690784|PMID:24684524|PMID:24747189|PMID:25741868|PMID:25950944|PMID:26467025|PMID:26818157|PMID:28492532|PMID:31883110|PMID:32733715|PMID:9305844|PMID:9536098 11901880 PLCB1 phospholipase C beta 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:733094 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:16199547|PMID:17576681|PMID:18414213|PMID:20833646|PMID:22690784|PMID:24684524|PMID:24747189|PMID:25741868|PMID:25950944|PMID:26467025|PMID:26818157|PMID:28492532|PMID:31883110|PMID:9305844|PMID:9536098 11901880 PLCB1 phospholipase C beta 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:733094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 11901880 PLCB1 phospholipase C beta 1 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:733094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 11901880 PLCB1 phospholipase C beta 1 gene DOID:10652 Alzheimer's disease ISO RGD:733094 D RGD:9068941 20200609 RGD PMID:8534418|REF_RGD_ID:13825140 11901880 PLCB1 phospholipase C beta 1 gene DOID:10652 Alzheimer's disease ISO RGD:735582 D RGD:9068941 20220825 MouseDO OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 11901880 PLCB1 phospholipase C beta 1 gene DOID:11832 visual epilepsy ISO RGD:733094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure PMID:18414213|PMID:24747189|PMID:25741868|PMID:26467025|PMID:28492532 11901880 PLCB1 phospholipase C beta 1 gene DOID:1826 epilepsy ISO RGD:733094 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11901880 PLCB1 phospholipase C beta 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:733094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:29358611 11901880 PLCB1 phospholipase C beta 1 gene DOID:5419 schizophrenia ISO RGD:733094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17667964 11901880 PLCB1 phospholipase C beta 1 gene DOID:5419 schizophrenia ISO RGD:735582 D RGD:9068941 20220825 MouseDO OMIM:181500 11901880 PLCB1 phospholipase C beta 1 gene DOID:5844 myocardial infarction ISO RGD:3344 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:9521338|REF_RGD_ID:2314514 11901880 PLCB1 phospholipase C beta 1 gene DOID:630 genetic disease ISO RGD:733094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:24747189|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 11901880 PLCB1 phospholipase C beta 1 gene DOID:9000641 Pain ISO RGD:733094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16405873 11901880 PLCB1 phospholipase C beta 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:733094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 11901880 PLCB1 phospholipase C beta 1 gene DOID:9119 acute myeloid leukemia severity ISO RGD:733094 D RGD:9068941 20200609 RGD mRNA:increased expression:blood (human) PMID:20516454|REF_RGD_ID:11535940 11901880 PLCB1 phospholipase C beta 1 gene DOID:9245 Alagille syndrome ISO RGD:733094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:28492532|PMID:32733715 11901924 RTN4RL2 reticulon 4 receptor like 2 gene DOID:1059 intellectual disability ISO RGD:1344970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11901924 RTN4RL2 reticulon 4 receptor like 2 gene DOID:630 genetic disease ISO RGD:1344970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901931 SYNGR2 synaptogyrin 2 gene DOID:630 genetic disease ISO RGD:732040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901938 SUPT5H SPT5 homolog, DSIF elongation factor subunit gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1346289 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11901938 SUPT5H SPT5 homolog, DSIF elongation factor subunit gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1346289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11901938 SUPT5H SPT5 homolog, DSIF elongation factor subunit gene DOID:1342 congenital hypoplastic anemia ISO RGD:1346289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11901938 SUPT5H SPT5 homolog, DSIF elongation factor subunit gene DOID:2340 craniosynostosis ISO RGD:1346289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11901938 SUPT5H SPT5 homolog, DSIF elongation factor subunit gene DOID:630 genetic disease ISO RGD:1346289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901938 SUPT5H SPT5 homolog, DSIF elongation factor subunit gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1346289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11901938 SUPT5H SPT5 homolog, DSIF elongation factor subunit gene DOID:9269 maple syrup urine disease ISO RGD:1346289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11901938 SUPT5H SPT5 homolog, DSIF elongation factor subunit gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346289 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11901973 ATP6V1H ATPase H+ transporting V1 subunit H gene DOID:630 genetic disease ISO RGD:1320995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901998 CXADR CXADR Ig-like cell adhesion molecule gene DOID:10652 Alzheimer's disease ISO RGD:1346916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 11901998 CXADR CXADR Ig-like cell adhesion molecule gene DOID:630 genetic disease ISO RGD:1346916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11901998 CXADR CXADR Ig-like cell adhesion molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11901998 CXADR CXADR Ig-like cell adhesion molecule gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11902010 HELZ2 helicase with zinc finger 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 11902010 HELZ2 helicase with zinc finger 2 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1604565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 11902010 HELZ2 helicase with zinc finger 2 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1604565 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 11902010 HELZ2 helicase with zinc finger 2 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1604565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11902010 HELZ2 helicase with zinc finger 2 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1604565 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 11902010 HELZ2 helicase with zinc finger 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 11902010 HELZ2 helicase with zinc finger 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 11902010 HELZ2 helicase with zinc finger 2 gene DOID:630 genetic disease ISO RGD:1604565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902010 HELZ2 helicase with zinc finger 2 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:1604565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 11902034 ZSCAN2 zinc finger and SCAN domain containing 2 gene DOID:10283 prostate cancer ISO RGD:1606268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11902034 ZSCAN2 zinc finger and SCAN domain containing 2 gene DOID:2717 Bloom syndrome ISO RGD:1606268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11902034 ZSCAN2 zinc finger and SCAN domain containing 2 gene DOID:630 genetic disease ISO RGD:1606268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902034 ZSCAN2 zinc finger and SCAN domain containing 2 gene DOID:9256 colorectal cancer ISO RGD:1606268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11902053 UCP3 uncoupling protein 3 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:733835 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11902053 UCP3 uncoupling protein 3 gene DOID:1059 intellectual disability ISO RGD:733835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11902053 UCP3 uncoupling protein 3 gene DOID:10763 hypertension ISO RGD:3933 D RGD:9068941 20200609 RGD PMID:10994754|REF_RGD_ID:1580795 11902053 UCP3 uncoupling protein 3 gene DOID:11716 prediabetes syndrome ISO RGD:3933 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brown fat PMID:12659879|REF_RGD_ID:2313629 11902053 UCP3 uncoupling protein 3 gene DOID:11716 prediabetes syndrome ISO RGD:733835 D RGD:9068941 20200609 RGD PMID:17587402|REF_RGD_ID:2313514 11902053 UCP3 uncoupling protein 3 gene DOID:11981 morbid obesity ISO RGD:733835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: OBESITY, SEVERE PMID:28492532|PMID:9769326 11902053 UCP3 uncoupling protein 3 gene DOID:1459 hypothyroidism ISO RGD:3933 D RGD:9068941 20200609 RGD protein:decreased expression:skeletal muscle, mitochondrion PMID:17012607|REF_RGD_ID:2313535 11902053 UCP3 uncoupling protein 3 gene DOID:4247 coronary restenosis susceptibility ISO RGD:733835 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-55C>T (human) PMID:17786284|REF_RGD_ID:2313513 11902053 UCP3 uncoupling protein 3 gene DOID:6000 congestive heart failure ISO RGD:3933 D RGD:9068941 20200609 RGD protein:decreased expression:heart, mitochondria PMID:20809120|REF_RGD_ID:7204424 11902053 UCP3 uncoupling protein 3 gene DOID:630 genetic disease ISO RGD:733835 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11902053 UCP3 uncoupling protein 3 gene DOID:767 muscular atrophy ISO RGD:11474 D RGD:9068941 20200609 RGD mRNA:altered expression:quadriceps muscle (mouse) PMID:19462004|REF_RGD_ID:10045654 11902053 UCP3 uncoupling protein 3 gene DOID:7998 hyperthyroidism ISO RGD:3933 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle, mitochondrion PMID:17012607|REF_RGD_ID:2313535 11902053 UCP3 uncoupling protein 3 gene DOID:9002188 Hypoinsulinemia ISO RGD:733835 D RGD:9068941 20200609 RGD PMID:10935638|REF_RGD_ID:737762 11902053 UCP3 uncoupling protein 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733835 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22919386 11902053 UCP3 uncoupling protein 3 gene DOID:9002916 Hyperphagia ISO RGD:733835 D RGD:9068941 20200609 RGD PMID:10935638|REF_RGD_ID:737762 11902053 UCP3 uncoupling protein 3 gene DOID:9004538 Hearing Loss ISO RGD:3933 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cochlea (rat) PMID:22543089|REF_RGD_ID:10045653 11902053 UCP3 uncoupling protein 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3933 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:10868941|REF_RGD_ID:2313524 11902053 UCP3 uncoupling protein 3 gene DOID:9005643 Experimental Diabetes Mellitus susceptibility ISO RGD:733835 D RGD:9068941 20200609 RGD PMID:12079841|REF_RGD_ID:2313520 11902053 UCP3 uncoupling protein 3 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3933 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart right ventricle PMID:17704287|REF_RGD_ID:2302404 11902053 UCP3 uncoupling protein 3 gene DOID:9007692 Insulin Resistance ISO RGD:733835 D RGD:9068941 20200609 RGD PMID:17571165|REF_RGD_ID:2313515 11902053 UCP3 uncoupling protein 3 gene DOID:9007692 Insulin Resistance ISO RGD:733835 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-55C>T (human) PMID:17870627|REF_RGD_ID:2313512 11902053 UCP3 uncoupling protein 3 gene DOID:9007751 Hypocholesterolemia ISO RGD:733835 D RGD:9068941 20200609 RGD PMID:10935638|REF_RGD_ID:737762 11902053 UCP3 uncoupling protein 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3933 D RGD:9068941 20200609 RGD mRNA:increased expression:myocardium PMID:19526854|REF_RGD_ID:2313528 11902053 UCP3 uncoupling protein 3 gene DOID:9351 diabetes mellitus ISO RGD:733835 D RGD:9068941 20200609 RGD PMID:17587402|REF_RGD_ID:2313514 11902053 UCP3 uncoupling protein 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: UCP3 POLYMORPHISM G/A PMID:28492532|PMID:9769326 11902053 UCP3 uncoupling protein 3 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:733835 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-55C>T (human) PMID:11484089|REF_RGD_ID:2313522 11902053 UCP3 uncoupling protein 3 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:733835 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-55C>T (human) PMID:11126413|REF_RGD_ID:2313523 11902053 UCP3 uncoupling protein 3 gene DOID:9743 diabetic neuropathy susceptibility ISO RGD:733835 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism:promoter:-55C>T (human) PMID:16373902|REF_RGD_ID:2313516 11902053 UCP3 uncoupling protein 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:11474 D RGD:9068941 20200609 RGD PMID:18678617|REF_RGD_ID:2313502 11902053 UCP3 uncoupling protein 3 gene DOID:9970 obesity ISO RGD:733835 D RGD:7240710 20180130 OMIM 11902053 UCP3 uncoupling protein 3 gene DOID:9970 obesity ISO RGD:733835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, severe, and type II diabetes | ClinVar Annotator: match by term: UCP3 POLYMORPHISM G/A PMID:25741868|PMID:28492532|PMID:9769326 11902053 UCP3 uncoupling protein 3 gene DOID:9970 obesity no_association ISO RGD:733835 D RGD:9068941 20200609 RGD DNA:polymorphism:exon (human) PMID:9700198|REF_RGD_ID:2313526 11902053 UCP3 uncoupling protein 3 gene DOID:9970 obesity susceptibility ISO RGD:733835 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-55C>T (human) PMID:18249216|REF_RGD_ID:2313506 11902053 UCP3 uncoupling protein 3 gene DOID:9993 hypoglycemia ISO RGD:733835 D RGD:9068941 20200609 RGD PMID:10935638|REF_RGD_ID:737762 11902064 NNAT neuronatin gene DOID:2234 focal epilepsy ISO RGD:730841 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11902064 NNAT neuronatin gene DOID:3908 lung non-small cell carcinoma ISO RGD:730841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043644 11902064 NNAT neuronatin gene DOID:630 genetic disease ISO RGD:730841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902064 NNAT neuronatin gene DOID:769 neuroblastoma ISO RGD:730841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17762496 11902064 NNAT neuronatin gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:730841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 11902074 KLHL36 kelch like family member 36 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1350475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 11902074 KLHL36 kelch like family member 36 gene DOID:5419 schizophrenia ISO RGD:1350475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11902074 KLHL36 kelch like family member 36 gene DOID:630 genetic disease ISO RGD:1350475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902091 FAM111A FAM111 trypsin like peptidase A gene DOID:0080723 Kenny-Caffey syndrome type 2 ISO RGD:1606517 D RGD:7240710 20180130 OMIM 11902091 FAM111A FAM111 trypsin like peptidase A gene DOID:0080723 Kenny-Caffey syndrome type 2 ISO RGD:1606517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dwarfism, cortical thickening of tubular bones and transient hypocalcemia | ClinVar Annotator: match by term: Kenny-Caffey syndrome type 2 PMID:23684011|PMID:23996431|PMID:24635597|PMID:24970356|PMID:25741868|PMID:28492532|PMID:29073591|PMID:32996714 11902091 FAM111A FAM111 trypsin like peptidase A gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11902091 FAM111A FAM111 trypsin like peptidase A gene DOID:1059 intellectual disability ISO RGD:1606517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11902091 FAM111A FAM111 trypsin like peptidase A gene DOID:10907 microcephaly ISO RGD:1606517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11902091 FAM111A FAM111 trypsin like peptidase A gene DOID:630 genetic disease ISO RGD:1606517 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23684011|PMID:23996431|PMID:24635597|PMID:24970356|PMID:25741868|PMID:28492532|PMID:29073591|PMID:32996714 11902091 FAM111A FAM111 trypsin like peptidase A gene DOID:9007661 Dwarfism ISO RGD:1606517 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11902091 FAM111A FAM111 trypsin like peptidase A gene DOID:9008032 Gracile Bone Dysplasia ISO RGD:1606517 D RGD:7240710 20180130 OMIM 11902091 FAM111A FAM111 trypsin like peptidase A gene DOID:9008032 Gracile Bone Dysplasia ISO RGD:1606517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteocraniostenosis PMID:23684011|PMID:23996431|PMID:24635597|PMID:24970356|PMID:25741868|PMID:28492532|PMID:29073591|PMID:32996714 11902100 HEPH hephaestin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:734284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11902100 HEPH hephaestin gene DOID:12849 autistic disorder ISO RGD:734284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11902100 HEPH hephaestin gene DOID:1686 glaucoma ISO RGD:734284 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (human) PMID:28990066|REF_RGD_ID:155630605 11902100 HEPH hephaestin gene DOID:1790 malignant mesothelioma ISO RGD:734284 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26818092 11902100 HEPH hephaestin gene DOID:630 genetic disease ISO RGD:734284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902127 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:0050424 familial adenomatous polyposis ISO RGD:737492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25200834 11902127 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:737492 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 11902127 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:2957 pulmonary tuberculosis ISO RGD:737492 D RGD:9068941 20201225 RGD protein:increased expression:urine PMID:29636444|REF_RGD_ID:40903003 11902127 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:737492 D RGD:9068941 20210115 RGD protein:increased processing:serum PMID:23436019|REF_RGD_ID:40907060 11902127 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:70881 D RGD:9068941 20210115 RGD protein:increased expression, increased processing:serum PMID:23436019|REF_RGD_ID:40907060 11902127 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:5082 liver cirrhosis ISO RGD:737492 D RGD:9068941 20201225 RGD associated with hepatitis B;protein:increased expression:serum PMID:24836184|REF_RGD_ID:40903002 11902127 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:5844 myocardial infarction ISO RGD:737492 D RGD:9068941 20200609 RGD PMID:10486281|REF_RGD_ID:1582334 11902127 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:630 genetic disease ISO RGD:737492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902127 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737492 D RGD:9068941 20201225 RGD associated with hepatitis B;protein:decreased expression:serum PMID:24836184|REF_RGD_ID:40903002 11902127 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:8805 intermediate coronary syndrome ISO RGD:737492 D RGD:9068941 20200609 RGD PMID:10486281|REF_RGD_ID:1582334 11902127 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9000039 Spinal Cord Injuries severity ISO RGD:70881 D RGD:9068941 20210115 RGD protein:decreased expression:cerebrospinal fluid PMID:21559420|REF_RGD_ID:40907059 11902127 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9000808 Hypercholesterolemia ISO RGD:737492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, susceptibility to PMID:14661079 11902127 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9000808 Hypercholesterolemia susceptibility ISO RGD:737492 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs3821831, homozygous C allele associated with higher total and HDL cholesterol PMID:14661079|REF_RGD_ID:1627650 11902127 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9002928 Colonic Neoplasms ISO RGD:70881 D RGD:9068941 20210115 RGD protein:increased expression:serum PMID:25200834|REF_RGD_ID:10449102 11902127 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9002928 Colonic Neoplasms ISO RGD:737492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25200834 11902127 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9003219 Invasive Pulmonary Aspergillosis ISO RGD:70881 D RGD:9068941 20201225 RGD protein:increased expression:respiratory system fluid/secretion, serum PMID:24360996|REF_RGD_ID:40903005 11902127 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9005036 Bacteremia ISO RGD:737493 D RGD:9068941 20210115 RGD protein:increased expression:liver, serum PMID:33348064|REF_RGD_ID:40907057 11902127 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9008163 Chronic Hepatitis B ISO RGD:737492 D RGD:9068941 20201225 RGD protein:increased expression:serum PMID:24836184|REF_RGD_ID:40903002 11902127 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9970 obesity ISO RGD:70881 D RGD:9068941 20210115 RGD PMID:22134356|REF_RGD_ID:11352709 11902164 LOC100981039 olfactory receptor 4K5 gene DOID:630 genetic disease ISO RGD:1349816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902170 ZNF106 zinc finger protein 106 gene DOID:2717 Bloom syndrome ISO RGD:1343281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11902170 ZNF106 zinc finger protein 106 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1616834 D RGD:9068941 20220825 MouseDO 11902170 ZNF106 zinc finger protein 106 gene DOID:630 genetic disease ISO RGD:1343281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902170 ZNF106 zinc finger protein 106 gene DOID:9256 colorectal cancer ISO RGD:1343281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11902202 LOC100985518 E3 SUMO-protein ligase ZNF451 gene DOID:5419 schizophrenia ISO RGD:1314152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11902202 LOC100985518 E3 SUMO-protein ligase ZNF451 gene DOID:630 genetic disease ISO RGD:1314152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902230 TMEM240 transmembrane protein 240 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1603247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11902230 TMEM240 transmembrane protein 240 gene DOID:0050972 spinocerebellar ataxia type 21 ISO RGD:1603247 D RGD:7240710 20180130 OMIM 11902230 TMEM240 transmembrane protein 240 gene DOID:0050972 spinocerebellar ataxia type 21 ISO RGD:1603247 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 21 PMID:11160961|PMID:25070513|PMID:25741868|PMID:28492532|PMID:30522958|PMID:33851480 11902230 TMEM240 transmembrane protein 240 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603247 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11902230 TMEM240 transmembrane protein 240 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1603247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11902230 TMEM240 transmembrane protein 240 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1603247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11902230 TMEM240 transmembrane protein 240 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1603247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11902230 TMEM240 transmembrane protein 240 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1603247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11902230 TMEM240 transmembrane protein 240 gene DOID:0111934 immunodeficiency 38 ISO RGD:1603247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11902230 TMEM240 transmembrane protein 240 gene DOID:0111935 immunodeficiency 16 ISO RGD:1603247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11902230 TMEM240 transmembrane protein 240 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11902230 TMEM240 transmembrane protein 240 gene DOID:630 genetic disease ISO RGD:1603247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30522958 11902230 TMEM240 transmembrane protein 240 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25070513|PMID:25741868|PMID:28492532 11902230 TMEM240 transmembrane protein 240 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1603247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11902230 TMEM240 transmembrane protein 240 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1603247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11902236 LOC100986527 N-deacetylase and N-sulfotransferase 4 gene DOID:630 genetic disease ISO RGD:1315201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902236 LOC100986527 N-deacetylase and N-sulfotransferase 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 11902254 VPS37C VPS37C subunit of ESCRT-I gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1605989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11902254 VPS37C VPS37C subunit of ESCRT-I gene DOID:1059 intellectual disability ISO RGD:1605989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11902254 VPS37C VPS37C subunit of ESCRT-I gene DOID:630 genetic disease ISO RGD:1605989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902273 ZNF142 zinc finger protein 142 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1320100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11902273 ZNF142 zinc finger protein 142 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1320100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11902273 ZNF142 zinc finger protein 142 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1320100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11902273 ZNF142 zinc finger protein 142 gene DOID:1826 epilepsy ISO RGD:1320100 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11902273 ZNF142 zinc finger protein 142 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1320100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11902273 ZNF142 zinc finger protein 142 gene DOID:630 genetic disease ISO RGD:1320100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11902273 ZNF142 zinc finger protein 142 gene DOID:9000239 Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements ISO RGD:1320100 D RGD:7240710 20190612 OMIM 11902273 ZNF142 zinc finger protein 142 gene DOID:9000239 Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements ISO RGD:1320100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with impaired speech and hyperkinetic movements PMID:25741868|PMID:31036918 11902273 ZNF142 zinc finger protein 142 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11902273 ZNF142 zinc finger protein 142 gene DOID:9008086 Developmental Disabilities ISO RGD:1320100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11902285 RAB3B RAB3B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:736582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902295 LOC100988669 keratin-associated protein 24-1 gene DOID:630 genetic disease ISO RGD:2292073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902300 DGCR6 DiGeorge syndrome critical region gene 6 gene DOID:0060041 autism spectrum disorder ISO RGD:1319711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11902300 DGCR6 DiGeorge syndrome critical region gene 6 gene DOID:0070080 schizophrenia 4 ISO RGD:1319711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia 4 PMID:12217952 11902300 DGCR6 DiGeorge syndrome critical region gene 6 gene DOID:0080542 hyperprolinemia type 1 ISO RGD:1319711 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Proline dehydrogenase deficiency PMID:12217952|PMID:19736351|PMID:26978485|PMID:28492532 11902300 DGCR6 DiGeorge syndrome critical region gene 6 gene DOID:0111996 immunodeficiency 51 ISO RGD:1319711 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11902300 DGCR6 DiGeorge syndrome critical region gene 6 gene DOID:1059 intellectual disability ISO RGD:1319711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11902300 DGCR6 DiGeorge syndrome critical region gene 6 gene DOID:11198 DiGeorge syndrome ISO RGD:1319711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:31690835|PMID:32581362 11902300 DGCR6 DiGeorge syndrome critical region gene 6 gene DOID:11372 megacolon ISO RGD:1319711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11902300 DGCR6 DiGeorge syndrome critical region gene 6 gene DOID:12583 velocardiofacial syndrome ISO RGD:1319711 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome 11902300 DGCR6 DiGeorge syndrome critical region gene 6 gene DOID:12849 autistic disorder ISO RGD:1319711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11902300 DGCR6 DiGeorge syndrome critical region gene 6 gene DOID:1826 epilepsy ISO RGD:1319711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11902300 DGCR6 DiGeorge syndrome critical region gene 6 gene DOID:5419 schizophrenia ISO RGD:1319711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11902300 DGCR6 DiGeorge syndrome critical region gene 6 gene DOID:612 primary immunodeficiency disease ISO RGD:1319711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11902300 DGCR6 DiGeorge syndrome critical region gene 6 gene DOID:630 genetic disease ISO RGD:1319711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902300 DGCR6 DiGeorge syndrome critical region gene 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11902300 DGCR6 DiGeorge syndrome critical region gene 6 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1319711 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11902301 PRX periaxin gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1351983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:15197604|PMID:15469949|PMID:16770524|PMID:22847150|PMID:25614874|PMID:26059842|PMID:28492532 11902301 PRX periaxin gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:1351983 D RGD:7240710 20180425 OMIM 11902301 PRX periaxin gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:1351983 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome | ClinVar Annotator: match by term: Dejerine-Sottas disease PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16770524|PMID:20301641|PMID:21079185|PMID:22847150|PMID:24033266|PMID:24078732|PMID:25326635|PMID:25628743|PMID:25741868|PMID:26059842|PMID:26467025|PMID:28492532|PMID:31673878|PMID:32376792 11902301 PRX periaxin gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1351983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10848494|PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16199547|PMID:16770524|PMID:17576681|PMID:18410371|PMID:19837996|PMID:21079185|PMID:21741241|PMID:21840889|PMID:22847150|PMID:24011642|PMID:24078732|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25164601|PMID:25188385|PMID:25326635|PMID:25614874|PMID:25628743|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:27104957|PMID:27862672|PMID:28492532|PMID:28708278|PMID:28902413|PMID:29858556|PMID:30724636|PMID:31372974|PMID:31523542|PMID:31673878|PMID:9536098 11902301 PRX periaxin gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1351983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10848494|PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16199547|PMID:16770524|PMID:17576681|PMID:18410371|PMID:19837996|PMID:20301641|PMID:21079185|PMID:21741241|PMID:21840889|PMID:22847150|PMID:23056405|PMID:24011642|PMID:24033266|PMID:24078732|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25164601|PMID:25188385|PMID:25326635|PMID:25614874|PMID:25628743|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:27104957|PMID:27862672|PMID:28492532|PMID:28708278|PMID:28902413|PMID:29623298|PMID:29858556|PMID:30724636|PMID:31372974|PMID:31523542|PMID:31673878|PMID:32376792|PMID:32460404|PMID:32665875|PMID:9536098 11902301 PRX periaxin gene DOID:0080288 spinocerebellar ataxia 46 ISO RGD:1351983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 46 PMID:15197604|PMID:15469949|PMID:16770524|PMID:22847150|PMID:24011642|PMID:25741868|PMID:26059842|PMID:28492532|PMID:32376792 11902301 PRX periaxin gene DOID:0110193 Charcot-Marie-Tooth disease type 4F ISO RGD:1351983 D RGD:7240710 20180130 OMIM 11902301 PRX periaxin gene DOID:0110193 Charcot-Marie-Tooth disease type 4F ISO RGD:1351983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 4F PMID:10848494|PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16534116|PMID:16770524|PMID:18504680|PMID:19837996|PMID:20301641|PMID:21079185|PMID:21840889|PMID:22847150|PMID:24011642|PMID:24033266|PMID:24078732|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25164601|PMID:25188385|PMID:25326635|PMID:25614874|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:27104957|PMID:28492532|PMID:29623298|PMID:31372974|PMID:31523542|PMID:31673878|PMID:32214227|PMID:32376792 11902301 PRX periaxin gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1351983 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11902301 PRX periaxin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1351983 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10848494|PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16534116|PMID:16770524|PMID:18410371|PMID:18504680|PMID:19837996|PMID:20301641|PMID:21079185|PMID:21326314|PMID:21741241|PMID:21840889|PMID:22847150|PMID:24011642|PMID:24078732|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25044680|PMID:25164601|PMID:25188385|PMID:25326635|PMID:25614874|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:28492532|PMID:30724636|PMID:31523542|PMID:32376792 11902301 PRX periaxin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1351983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10848494|PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16534116|PMID:16770524|PMID:18410371|PMID:18504680|PMID:19837996|PMID:20301641|PMID:21079185|PMID:21326314|PMID:21741241|PMID:21840889|PMID:22847150|PMID:23056405|PMID:24011642|PMID:24078732|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25044680|PMID:25164601|PMID:25188385|PMID:25326635|PMID:25614874|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:28492532|PMID:29623298|PMID:30724636|PMID:31523542|PMID:32376792|PMID:32460404 11902301 PRX periaxin gene DOID:12377 spinal muscular atrophy ISO RGD:1351983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:28492532 11902301 PRX periaxin gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1351983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11902301 PRX periaxin gene DOID:1342 congenital hypoplastic anemia ISO RGD:1351983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11902301 PRX periaxin gene DOID:2340 craniosynostosis ISO RGD:1351983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11902301 PRX periaxin gene DOID:2477 motor peripheral neuropathy ISO RGD:1351983 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11902301 PRX periaxin gene DOID:574 peripheral nervous system disease ISO RGD:1351983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:11133365|PMID:15197604|PMID:15469949|PMID:16770524|PMID:21741241|PMID:22847150|PMID:25741868|PMID:26059842|PMID:28492532|PMID:30724636|PMID:31673878 11902301 PRX periaxin gene DOID:630 genetic disease ISO RGD:1351983 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11133365|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16770524|PMID:19837996|PMID:20301641|PMID:21840889|PMID:22847150|PMID:23056405|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25164601|PMID:25188385|PMID:25614874|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:27104957|PMID:28492532|PMID:29623298|PMID:31523542|PMID:31673878|PMID:32376792|PMID:32665875 11902301 PRX periaxin gene DOID:83 cataract ISO RGD:1351983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 11902301 PRX periaxin gene DOID:870 neuropathy ISO RGD:1351983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:11133365|PMID:15197604|PMID:15469949|PMID:16770524|PMID:21741241|PMID:22847150|PMID:25741868|PMID:26059842|PMID:28492532|PMID:30724636|PMID:31673878 11902301 PRX periaxin gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1351983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11902301 PRX periaxin gene DOID:9269 maple syrup urine disease ISO RGD:1351983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11902301 PRX periaxin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351983 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11902316 LYSMD4 LysM domain containing 4 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1606711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 11902316 LYSMD4 LysM domain containing 4 gene DOID:630 genetic disease ISO RGD:1606711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902336 CC2D2B coiled-coil and C2 domain containing 2B gene DOID:0060027 agammaglobulinemia 4 ISO RGD:1321297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive PMID:28492532 11902336 CC2D2B coiled-coil and C2 domain containing 2B gene DOID:630 genetic disease ISO RGD:1321297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902350 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:620298 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 11902350 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:0080208 non-alcoholic fatty liver disease disease_progression ISO RGD:620298 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:23117815|REF_RGD_ID:15045604 11902350 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:0090019 sitosterolemia ISO RGD:732219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sitosterolemia PMID:11138003|PMID:11452359|PMID:11668628|PMID:11855938|PMID:11893785|PMID:11907139|PMID:15054092|PMID:15375183|PMID:16199547|PMID:17228349|PMID:17576681|PMID:17632509|PMID:17976197|PMID:19111681|PMID:19667188|PMID:20466091|PMID:20521169|PMID:20543520|PMID:20719861|PMID:21039838|PMID:21274884|PMID:21576934|PMID:21729603|PMID:22898925|PMID:24033266|PMID:24166850|PMID:24423340|PMID:24503134|PMID:25525159|PMID:25665839|PMID:25741868|PMID:26813946|PMID:26892138|PMID:27291889|PMID:27884173|PMID:28203044|PMID:28492532|PMID:28521186|PMID:28696550|PMID:28771437|PMID:29055934|PMID:29066094|PMID:29353225|PMID:29886606|PMID:30007774|PMID:30270055|PMID:30349881|PMID:30528907|PMID:30697800|PMID:30782472|PMID:30833958|PMID:30985648|PMID:31060161|PMID:31064749|PMID:31589614|PMID:31795497|PMID:31901240|PMID:32041611|PMID:32088153|PMID:32166861|PMID:32275988|PMID:32702746|PMID:32862661|PMID:33217533|PMID:33269076|PMID:33642439|PMID:34505049|PMID:34969652|PMID:9536098 11902350 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:0090019 sitosterolemia susceptibility ISO RGD:620298 D RGD:9068941 20210326 RGD DNA:missense mutation: p.G583C , 1757G>T (rat) PMID:16026620|REF_RGD_ID:1598659 11902350 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:732219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 PMID:26077881 11902350 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:13580 cholestasis ISO RGD:620298 D RGD:9068941 20200609 RGD PMID:16764892|REF_RGD_ID:1598662 11902350 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:1588 thrombocytopenia ISO RGD:732219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532|PMID:31064749|PMID:32088153 11902350 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:1936 atherosclerosis ISO RGD:732219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11138003 11902350 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:2213 hemorrhagic disease ISO RGD:732219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 11902350 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:732219 D RGD:9068941 20200609 RGD PMID:11099417|REF_RGD_ID:1300331 11902350 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:3146 lipid metabolism disorder ISO RGD:732219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11138003 11902350 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:3345 xanthomatosis ISO RGD:732219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11138003 11902350 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:3393 coronary artery disease ISO RGD:732219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11099417|PMID:11138003 11902350 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:3883 Lynch syndrome ISO RGD:732219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11902350 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:589 congenital hemolytic anemia ISO RGD:732219 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868 11902350 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:630 genetic disease ISO RGD:732219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11902350 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:9000528 Coronary Disease ISO RGD:732219 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset coronary artery disease 11902350 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:9000808 Hypercholesterolemia ISO RGD:732219 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia 11902350 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11902350 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:9001723 Sitosterolemia 2 ISO RGD:732219 D RGD:7240710 20191211 OMIM 11902350 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:9001723 Sitosterolemia 2 ISO RGD:732219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sitosterolemia 2 PMID:11099417|PMID:11138003|PMID:11893785|PMID:11907139|PMID:15054092|PMID:15375183|PMID:16029460|PMID:17228349|PMID:17632509|PMID:17976197|PMID:19111681|PMID:20521169|PMID:20543520|PMID:20719861|PMID:21039838|PMID:21274884|PMID:21729603|PMID:22898925|PMID:24033266|PMID:24166850|PMID:24423340|PMID:25525159|PMID:25665839|PMID:25741868|PMID:26813946|PMID:27884173|PMID:28203044|PMID:28492532|PMID:28521186|PMID:28696550|PMID:28771437|PMID:29055934|PMID:29353225|PMID:29886606|PMID:30007774|PMID:30270055|PMID:30528907|PMID:30697800|PMID:30782472|PMID:30833958|PMID:30985648|PMID:31060161|PMID:31064749|PMID:31589614|PMID:31901240|PMID:32041611|PMID:32088153|PMID:32166861|PMID:32275988|PMID:32862661|PMID:33217533|PMID:33269076|PMID:33642439|PMID:34355501|PMID:34505049|PMID:34969652|PMID:35557526 11902350 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22919386 11902350 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:9002547 Sitosterolemia 1 ISO RGD:732219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sitosterolemia 1 PMID:11668628|PMID:11893785|PMID:17228349|PMID:17632509|PMID:17976197|PMID:19111681|PMID:20521169|PMID:20719861|PMID:21039838|PMID:21274884|PMID:21729603|PMID:22898925|PMID:24033266|PMID:24166850|PMID:24423340|PMID:24503134|PMID:25525159|PMID:25665839|PMID:25741868|PMID:26813946|PMID:27291889|PMID:27884173|PMID:28492532|PMID:28521186|PMID:28696550|PMID:29055934|PMID:29066094|PMID:29353225|PMID:29886606|PMID:30270055|PMID:30349881|PMID:30528907|PMID:30697800|PMID:30833958|PMID:31060161|PMID:31064749|PMID:31589614|PMID:32041611|PMID:32088153|PMID:32702746|PMID:32862661|PMID:33217533|PMID:33269076|PMID:34969652 11902350 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:9003370 Dyslipidemias ISO RGD:732219 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dyslipidemia 11902350 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:9004314 Short-Rib Thoracic Dysplasia 15 with Polydactyly ISO RGD:732219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 15 with polydactyly PMID:26077881 11902350 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:9004877 Autosomal Dominant Tubulointerstitial Kidney Disease 5 ISO RGD:732219 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 PMID:25741868|PMID:27291889|PMID:28492532|PMID:30270055|PMID:30349881|PMID:32702746 11902350 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:9005000 Gallbladder Disease 4 ISO RGD:732219 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Gallbladder disease 4 PMID:11893785|PMID:17632509|PMID:21039838|PMID:21274884|PMID:22898925|PMID:25741868|PMID:28492532 11902350 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:9005302 Platelet-Type Bleeding Disorder 13 ISO RGD:732219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Impaired thromboxane A2 agonist-induced platelet aggregation PMID:32581362 11902350 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620298 D RGD:9068941 20200609 RGD PMID:14618236|REF_RGD_ID:1558629 11902350 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:9970 obesity disease_progression ISO RGD:620298 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:25612518|REF_RGD_ID:15045599 11902367 GREB1 growth regulating estrogen receptor binding 1 gene DOID:289 endometriosis ISO RGD:1605705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104006 11902367 GREB1 growth regulating estrogen receptor binding 1 gene DOID:5419 schizophrenia ISO RGD:1605705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11902367 GREB1 growth regulating estrogen receptor binding 1 gene DOID:630 genetic disease ISO RGD:1605705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902367 GREB1 growth regulating estrogen receptor binding 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16496412 11902404 HEYL hes related family bHLH transcription factor with YRPW motif like gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11902404 HEYL hes related family bHLH transcription factor with YRPW motif like gene DOID:630 genetic disease ISO RGD:1312805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902404 HEYL hes related family bHLH transcription factor with YRPW motif like gene DOID:9006182 Carotid Artery Injuries ISO RGD:1305022 D RGD:9068941 20200609 RGD PMID:11971902|REF_RGD_ID:625426 11902404 HEYL hes related family bHLH transcription factor with YRPW motif like gene DOID:9008939 Breast Neoplasms ISO RGD:1312805 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 11902419 PSKH2 protein serine kinase H2 gene DOID:630 genetic disease ISO RGD:1345682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902426 LOC100994041 olfactory receptor 1N1 gene DOID:630 genetic disease ISO RGD:1351301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902429 DNAH14 dynein axonemal heavy chain 14 gene DOID:1540 parathyroid carcinoma ISO RGD:1350731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11902429 DNAH14 dynein axonemal heavy chain 14 gene DOID:630 genetic disease ISO RGD:1350731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902429 DNAH14 dynein axonemal heavy chain 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350731 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11902429 DNAH14 dynein axonemal heavy chain 14 gene DOID:9008386 Hydrops Fetalis ISO RGD:1350731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 11902429 DNAH14 dynein axonemal heavy chain 14 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11902523 CLEC3A C-type lectin domain family 3 member A gene DOID:0060041 autism spectrum disorder ISO RGD:1604398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11902523 CLEC3A C-type lectin domain family 3 member A gene DOID:0080452 developmental and epileptic encephalopathy 28 ISO RGD:1604398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 11902523 CLEC3A C-type lectin domain family 3 member A gene DOID:630 genetic disease ISO RGD:1604398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902534 VPS72 vacuolar protein sorting 72 homolog gene DOID:0080422 Dravet syndrome ISO RGD:1314551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 11902534 VPS72 vacuolar protein sorting 72 homolog gene DOID:0111940 immunodeficiency 42 ISO RGD:1314551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11902534 VPS72 vacuolar protein sorting 72 homolog gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11902534 VPS72 vacuolar protein sorting 72 homolog gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314551 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11902534 VPS72 vacuolar protein sorting 72 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1314551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11902534 VPS72 vacuolar protein sorting 72 homolog gene DOID:5812 MHC class II deficiency ISO RGD:1314551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11902534 VPS72 vacuolar protein sorting 72 homolog gene DOID:630 genetic disease ISO RGD:1314551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902534 VPS72 vacuolar protein sorting 72 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11902544 ZNF23 zinc finger protein 23 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1316246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11902544 ZNF23 zinc finger protein 23 gene DOID:630 genetic disease ISO RGD:1316246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902544 ZNF23 zinc finger protein 23 gene DOID:684 hepatocellular carcinoma ISO RGD:1316246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21965783 11902619 KLF2 KLF transcription factor 2 gene DOID:0080600 COVID-19 ISO RGD:1351701 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11902619 KLF2 KLF transcription factor 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1351701 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases 11902619 KLF2 KLF transcription factor 2 gene DOID:630 genetic disease ISO RGD:1351701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902619 KLF2 KLF transcription factor 2 gene DOID:850 lung disease ISO RGD:1351701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21053160 11902619 KLF2 KLF transcription factor 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 11902624 TMEM59L transmembrane protein 59 like gene DOID:5119 ovarian cyst ISO RGD:1313653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 11902624 TMEM59L transmembrane protein 59 like gene DOID:630 genetic disease ISO RGD:1313653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902624 TMEM59L transmembrane protein 59 like gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1313653 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11902636 DEFB116 defensin beta 116 gene DOID:630 genetic disease ISO RGD:1344787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902641 LOC100972383 proteasome 20S subunit alpha 5 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:734293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11902641 LOC100972383 proteasome 20S subunit alpha 5 gene DOID:11476 osteoporosis ISO RGD:734293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 11902641 LOC100972383 proteasome 20S subunit alpha 5 gene DOID:12849 autistic disorder ISO RGD:734293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11902641 LOC100972383 proteasome 20S subunit alpha 5 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:734293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11902641 LOC100972383 proteasome 20S subunit alpha 5 gene DOID:630 genetic disease ISO RGD:734293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902641 LOC100972383 proteasome 20S subunit alpha 5 gene DOID:9452 fatty liver disease ISO RGD:734293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11902652 ZNF180 zinc finger protein 180 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1348239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 11902652 ZNF180 zinc finger protein 180 gene DOID:630 genetic disease ISO RGD:1348239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902674 IGSF1 immunoglobulin superfamily member 1 gene DOID:0050328 congenital hypothyroidism ISO RGD:1353839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143598 11902674 IGSF1 immunoglobulin superfamily member 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11902674 IGSF1 immunoglobulin superfamily member 1 gene DOID:0070126 congenital nongoitrous hypothyroidism 1 ISO RGD:1353839 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 PMID:25741868|PMID:28492532 11902674 IGSF1 immunoglobulin superfamily member 1 gene DOID:0111140 IGSF1 deficiency syndrome ISO RGD:1353839 D RGD:7240710 20180130 OMIM 11902674 IGSF1 immunoglobulin superfamily member 1 gene DOID:0111140 IGSF1 deficiency syndrome ISO RGD:1353839 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement PMID:23143598|PMID:23966245|PMID:25741868|PMID:27310681|PMID:28492532|PMID:30086211 11902674 IGSF1 immunoglobulin superfamily member 1 gene DOID:12849 autistic disorder ISO RGD:1353839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11902674 IGSF1 immunoglobulin superfamily member 1 gene DOID:2519 testicular disease ISO RGD:1353839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143598 11902674 IGSF1 immunoglobulin superfamily member 1 gene DOID:630 genetic disease ISO RGD:1353839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11902674 IGSF1 immunoglobulin superfamily member 1 gene DOID:9000591 Congenital Nongoitrous Hypothyroidism ISO RGD:1353839 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: TSH RESISTANCE PMID:25741868|PMID:28492532 11902703 ENOPH1 enolase-phosphatase 1 gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1603616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 11902703 ENOPH1 enolase-phosphatase 1 gene DOID:10316 pneumoconiosis ISO RGD:1603616 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 11902703 ENOPH1 enolase-phosphatase 1 gene DOID:630 genetic disease ISO RGD:1603616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902703 ENOPH1 enolase-phosphatase 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1603616 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11902716 DOK4 docking protein 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1320786 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11902716 DOK4 docking protein 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1320786 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11902716 DOK4 docking protein 4 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1320786 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11902716 DOK4 docking protein 4 gene DOID:630 genetic disease ISO RGD:1320786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902738 USP34 ubiquitin specific peptidase 34 gene DOID:0060224 atrial fibrillation ISO RGD:1318847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 11902738 USP34 ubiquitin specific peptidase 34 gene DOID:0060415 chromosome 2p16.1-p15 deletion syndrome ISO RGD:1318847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 2p16.1-p15 deletion syndrome 11902738 USP34 ubiquitin specific peptidase 34 gene DOID:0080485 peroxisome biogenesis disorder 11A ISO RGD:1318847 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) PMID:28492532 11902738 USP34 ubiquitin specific peptidase 34 gene DOID:5419 schizophrenia ISO RGD:1318847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11902738 USP34 ubiquitin specific peptidase 34 gene DOID:630 genetic disease ISO RGD:1318847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902821 ANKRD13D ankyrin repeat domain 13D gene DOID:1059 intellectual disability ISO RGD:1605234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11902821 ANKRD13D ankyrin repeat domain 13D gene DOID:630 genetic disease ISO RGD:1605234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902821 ANKRD13D ankyrin repeat domain 13D gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1605234 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11902821 ANKRD13D ankyrin repeat domain 13D gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1605234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11902847 EMC3 ER membrane protein complex subunit 3 gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1601753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 11902847 EMC3 ER membrane protein complex subunit 3 gene DOID:630 genetic disease ISO RGD:1601753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902847 EMC3 ER membrane protein complex subunit 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11902847 EMC3 ER membrane protein complex subunit 3 gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1601753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 11902847 EMC3 ER membrane protein complex subunit 3 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1601753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:25516202|PMID:28492532 11902862 CLPSL1 colipase like 1 gene DOID:0050553 JMP syndrome ISO RGD:1604478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11902862 CLPSL1 colipase like 1 gene DOID:630 genetic disease ISO RGD:1604478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902870 EBF2 EBF transcription factor 2 gene DOID:0110165 Charcot-Marie-Tooth disease type 2E ISO RGD:1321920 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E PMID:19158810|PMID:20039262|PMID:28492532 11902870 EBF2 EBF transcription factor 2 gene DOID:630 genetic disease ISO RGD:1321920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902888 CACNB3 calcium voltage-gated channel auxiliary subunit beta 3 gene DOID:5119 ovarian cyst ISO RGD:735859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 11902888 CACNB3 calcium voltage-gated channel auxiliary subunit beta 3 gene DOID:630 genetic disease ISO RGD:735859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902888 CACNB3 calcium voltage-gated channel auxiliary subunit beta 3 gene DOID:9003740 Nerve Injuries ISO RGD:2248 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:dorsal root ganglion: PMID:22187436|REF_RGD_ID:13514092 11902908 SYBU syntabulin gene DOID:630 genetic disease ISO RGD:1604347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902931 EMP3 epithelial membrane protein 3 gene DOID:630 genetic disease ISO RGD:731841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902931 EMP3 epithelial membrane protein 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15583422 11902946 EEF1B2 eukaryotic translation elongation factor 1 beta 2 gene DOID:1059 intellectual disability ISO RGD:1322866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11902946 EEF1B2 eukaryotic translation elongation factor 1 beta 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:1322866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11902946 EEF1B2 eukaryotic translation elongation factor 1 beta 2 gene DOID:1826 epilepsy ISO RGD:1322866 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11902946 EEF1B2 eukaryotic translation elongation factor 1 beta 2 gene DOID:630 genetic disease ISO RGD:1322866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902946 EEF1B2 eukaryotic translation elongation factor 1 beta 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1322866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005|PMID:20562527 11902946 EEF1B2 eukaryotic translation elongation factor 1 beta 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11902946 EEF1B2 eukaryotic translation elongation factor 1 beta 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1322866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11902946 EEF1B2 eukaryotic translation elongation factor 1 beta 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1322866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 11902961 RCHY1 ring finger and CHY zinc finger domain containing 1 gene DOID:11446 sciatic neuropathy ISO RGD:1359180 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve PMID:21959983|REF_RGD_ID:10045367 11902961 RCHY1 ring finger and CHY zinc finger domain containing 1 gene DOID:630 genetic disease ISO RGD:1353437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902961 RCHY1 ring finger and CHY zinc finger domain containing 1 gene DOID:9000918 Disease Progression ISO RGD:1353437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191284 11902961 RCHY1 ring finger and CHY zinc finger domain containing 1 gene DOID:9000998 Brain Injuries ISO RGD:1359180 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:21728064|REF_RGD_ID:10045359 11902961 RCHY1 ring finger and CHY zinc finger domain containing 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1353437 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11902961 RCHY1 ring finger and CHY zinc finger domain containing 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1353437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191284 11902977 RRP8 ribosomal RNA processing 8 gene DOID:0060041 autism spectrum disorder ISO RGD:1603685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11902977 RRP8 ribosomal RNA processing 8 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11902977 RRP8 ribosomal RNA processing 8 gene DOID:630 genetic disease ISO RGD:1603685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11902998 CLCN4 chloride voltage-gated channel 4 gene DOID:0080600 COVID-19 ISO RGD:1342594 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11902998 CLCN4 chloride voltage-gated channel 4 gene DOID:0112060 Raynaud-Claes syndrome ISO RGD:1342594 D RGD:7240710 20180130 OMIM 11902998 CLCN4 chloride voltage-gated channel 4 gene DOID:0112060 Raynaud-Claes syndrome ISO RGD:1342594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CLCN4-related X-linked intellectual disability syndrome | ClinVar Annotator: match by term: CLCN4-related disorder | ClinVar Annotator: match by term: MRX49 | ClinVar Annotator: match by term: RAYNAUD-CLAES SYNDROME PMID:17576681|PMID:23647072|PMID:25644381|PMID:25741868|PMID:25741869|PMID:26633542|PMID:27550844|PMID:28492532|PMID:29314583|PMID:31452935|PMID:31690835|PMID:31780880|PMID:33880059|PMID:8826458|PMID:9415477|PMID:9536098 11902998 CLCN4 chloride voltage-gated channel 4 gene DOID:1059 intellectual disability ISO RGD:1342594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11902998 CLCN4 chloride voltage-gated channel 4 gene DOID:10907 microcephaly ISO RGD:1342594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11902998 CLCN4 chloride voltage-gated channel 4 gene DOID:12849 autistic disorder ISO RGD:1342594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11902998 CLCN4 chloride voltage-gated channel 4 gene DOID:1826 epilepsy ISO RGD:1342594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 11902998 CLCN4 chloride voltage-gated channel 4 gene DOID:630 genetic disease ISO RGD:1342594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27550844|PMID:28492532|PMID:29314583 11902998 CLCN4 chloride voltage-gated channel 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11902998 CLCN4 chloride voltage-gated channel 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1342594 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 11903015 QRICH1 glutamine rich 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11903015 QRICH1 glutamine rich 1 gene DOID:1059 intellectual disability ISO RGD:1606541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild PMID:25741868|PMID:28692176|PMID:33009816|PMID:34859529 11903015 QRICH1 glutamine rich 1 gene DOID:630 genetic disease ISO RGD:1606541 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27694994|PMID:34859529 11903015 QRICH1 glutamine rich 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1606541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11903015 QRICH1 glutamine rich 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1606541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11903015 QRICH1 glutamine rich 1 gene DOID:9009176 VERVERI-BRADY SYNDROME ISO RGD:1606541 D RGD:7240710 20190315 OMIM 11903015 QRICH1 glutamine rich 1 gene DOID:9009176 VERVERI-BRADY SYNDROME ISO RGD:1606541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ververi-Brady syndrome PMID:25741868|PMID:28692176|PMID:30281152|PMID:33009816|PMID:34859529 11903046 ARHGAP44 Rho GTPase activating protein 44 gene DOID:630 genetic disease ISO RGD:1604841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11903083 PXDC1 PX domain containing 1 gene DOID:630 genetic disease ISO RGD:1322692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11903092 STARD8 StAR related lipid transfer domain containing 8 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11903092 STARD8 StAR related lipid transfer domain containing 8 gene DOID:12849 autistic disorder ISO RGD:1351860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11903092 STARD8 StAR related lipid transfer domain containing 8 gene DOID:630 genetic disease ISO RGD:1351860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11903092 STARD8 StAR related lipid transfer domain containing 8 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 11903092 STARD8 StAR related lipid transfer domain containing 8 gene DOID:9008939 Breast Neoplasms ISO RGD:1351860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 11903129 AOC1 amine oxidase copper containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732341 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11903129 AOC1 amine oxidase copper containing 1 gene DOID:10763 hypertension ISO RGD:732341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6218830 11903129 AOC1 amine oxidase copper containing 1 gene DOID:2843 long QT syndrome ISO RGD:732341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 11903129 AOC1 amine oxidase copper containing 1 gene DOID:630 genetic disease ISO RGD:732341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11903129 AOC1 amine oxidase copper containing 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732342 D RGD:9068941 20200609 RGD PMID:16895983|REF_RGD_ID:2315591 11903129 AOC1 amine oxidase copper containing 1 gene DOID:9003936 Cardiomegaly ISO RGD:732341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6218830 11903129 AOC1 amine oxidase copper containing 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61296 D RGD:9068941 20200609 RGD PMID:1632778|REF_RGD_ID:2312809 11903142 GPSM1 G protein signaling modulator 1 gene DOID:0050777 Joubert syndrome ISO RGD:1348855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11903142 GPSM1 G protein signaling modulator 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1348855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11903142 GPSM1 G protein signaling modulator 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1348855 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11903142 GPSM1 G protein signaling modulator 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1348855 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11903142 GPSM1 G protein signaling modulator 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1348855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11903142 GPSM1 G protein signaling modulator 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1348855 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11903142 GPSM1 G protein signaling modulator 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1348855 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11903142 GPSM1 G protein signaling modulator 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1348855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11903142 GPSM1 G protein signaling modulator 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1348855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 11903142 GPSM1 G protein signaling modulator 1 gene DOID:3652 Leigh disease ISO RGD:1348855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11903142 GPSM1 G protein signaling modulator 1 gene DOID:630 genetic disease ISO RGD:1348855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11903142 GPSM1 G protein signaling modulator 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1348855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15091342 11903142 GPSM1 G protein signaling modulator 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1348855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 11903172 FYCO1 FYVE and coiled-coil domain autophagy adaptor 1 gene DOID:0110238 cataract 18 ISO RGD:1319203 D RGD:7240710 20180130 OMIM 11903172 FYCO1 FYVE and coiled-coil domain autophagy adaptor 1 gene DOID:0110238 cataract 18 ISO RGD:1319203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 18 PMID:11519376|PMID:17576681|PMID:21636066|PMID:25741868|PMID:27878435|PMID:28418495|PMID:28492532|PMID:33767456|PMID:9536098 11903172 FYCO1 FYVE and coiled-coil domain autophagy adaptor 1 gene DOID:630 genetic disease ISO RGD:1319203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11903172 FYCO1 FYVE and coiled-coil domain autophagy adaptor 1 gene DOID:83 cataract ISO RGD:1319203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract 11903172 FYCO1 FYVE and coiled-coil domain autophagy adaptor 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1319203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11903172 FYCO1 FYVE and coiled-coil domain autophagy adaptor 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1319203 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868 11903202 FMNL2 formin like 2 gene DOID:630 genetic disease ISO RGD:1315771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11903202 FMNL2 formin like 2 gene DOID:8778 Crohn's disease ISO RGD:1315771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Crohn disease 11903202 FMNL2 formin like 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315771 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11903271 RBBP7 RB binding protein 7, chromatin remodeling factor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11903271 RBBP7 RB binding protein 7, chromatin remodeling factor gene DOID:12849 autistic disorder ISO RGD:732412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11903271 RBBP7 RB binding protein 7, chromatin remodeling factor gene DOID:630 genetic disease ISO RGD:732412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11903271 RBBP7 RB binding protein 7, chromatin remodeling factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11903312 CCDC191 coiled-coil domain containing 191 gene DOID:630 genetic disease ISO RGD:1350923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11903340 HACL1 2-hydroxyacyl-CoA lyase 1 gene DOID:0060417 3p deletion syndrome ISO RGD:1607054 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 11903340 HACL1 2-hydroxyacyl-CoA lyase 1 gene DOID:0110667 congenital myasthenic syndrome 5 ISO RGD:12352335 D RGD:9068941 20220630 OMIA Myasthenic syndrome, congenital, COLQ-related PMID:25166616|PMID:27080328|PMID:29405353|PMID:31769119|PMID:32668077 11903340 HACL1 2-hydroxyacyl-CoA lyase 1 gene DOID:13580 cholestasis ISO RGD:1607054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 11903340 HACL1 2-hydroxyacyl-CoA lyase 1 gene DOID:630 genetic disease ISO RGD:1607054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11903340 HACL1 2-hydroxyacyl-CoA lyase 1 gene DOID:856 biotinidase deficiency ISO RGD:1607054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Biotinidase deficiency PMID:20083419|PMID:28492532 11903340 HACL1 2-hydroxyacyl-CoA lyase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1607054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 11903362 OIP5 Opa interacting protein 5 gene DOID:2717 Bloom syndrome ISO RGD:1345771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11903362 OIP5 Opa interacting protein 5 gene DOID:630 genetic disease ISO RGD:1345771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11903362 OIP5 Opa interacting protein 5 gene DOID:9256 colorectal cancer ISO RGD:1345771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11903381 KLHDC1 kelch domain containing 1 gene DOID:630 genetic disease ISO RGD:1317857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11903381 KLHDC1 kelch domain containing 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1317857 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11903398 LOC100984456 vimentin-type intermediate filament-associated coiled-coil protein gene DOID:630 genetic disease ISO RGD:1348480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11903407 TXN thioredoxin gene DOID:0050700 cardiomyopathy ISO RGD:732442 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12221060 11903407 TXN thioredoxin gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:732441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:28492532 11903407 TXN thioredoxin gene DOID:10908 hydrocephalus ISO RGD:732441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31310794 11903407 TXN thioredoxin gene DOID:11650 bronchopulmonary dysplasia ISO RGD:732441 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20812253 11903407 TXN thioredoxin gene DOID:12930 dilated cardiomyopathy ISO RGD:732441 D RGD:9068941 20200609 RGD PMID:12870673|REF_RGD_ID:1580782 11903407 TXN thioredoxin gene DOID:1686 glaucoma ISO RGD:621157 D RGD:9068941 20200609 RGD protein:decreased expression:retinal ganglion cell PMID:18701913|REF_RGD_ID:2306193 11903407 TXN thioredoxin gene DOID:1790 malignant mesothelioma ISO RGD:732441 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27032653 11903407 TXN thioredoxin gene DOID:2773 contact dermatitis ISO RGD:732441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11903407 TXN thioredoxin gene DOID:409 liver disease ISO RGD:732441 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16996028 11903407 TXN thioredoxin gene DOID:5844 myocardial infarction ISO RGD:732441 D RGD:9068941 20200609 RGD PMID:14677813|REF_RGD_ID:1580785 11903407 TXN thioredoxin gene DOID:820 myocarditis ISO RGD:732441 D RGD:9068941 20200609 RGD PMID:12870673|REF_RGD_ID:1580782 11903407 TXN thioredoxin gene DOID:8805 intermediate coronary syndrome ISO RGD:732441 D RGD:9068941 20200609 RGD PMID:15749180|REF_RGD_ID:1580784 11903407 TXN thioredoxin gene DOID:9000965 Neoplasm Metastasis ISO RGD:732441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30396169 11903407 TXN thioredoxin gene DOID:9002170 Experimental Neoplasms ISO RGD:732441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28574600 11903407 TXN thioredoxin gene DOID:9004009 Reperfusion Injury ISO RGD:621157 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex PMID:19128823|REF_RGD_ID:5685030 11903407 TXN thioredoxin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 11903407 TXN thioredoxin gene DOID:9004610 Acute Lung Injury ISO RGD:732441 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16298680 11903407 TXN thioredoxin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621157 D RGD:9068941 20200609 RGD mRNA:altered expression:myocardium (rat) PMID:20571744|REF_RGD_ID:5133714 11903407 TXN thioredoxin gene DOID:9005835 Congenital Abnormalities ISO RGD:732441 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31310794 11903407 TXN thioredoxin gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:732441 D RGD:9068941 20200609 RGD PMID:15694802|REF_RGD_ID:1580783 11903407 TXN thioredoxin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:732442 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11462148 11903407 TXN thioredoxin gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:621157 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:18045550|REF_RGD_ID:2306159 11903407 TXN thioredoxin gene DOID:9008939 Breast Neoplasms ISO RGD:732441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30396169 11903407 TXN thioredoxin gene DOID:9452 fatty liver disease ISO RGD:621157 D RGD:9068941 20200609 RGD PMID:18578693|REF_RGD_ID:2306156 11903422 ACSBG2 acyl-CoA synthetase bubblegum family member 2 gene DOID:630 genetic disease ISO RGD:1604279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11903451 CXCL16 C-X-C motif chemokine ligand 16 gene DOID:0080600 COVID-19 ISO RGD:1354459 D RGD:9068941 20200618 RGD protein:increased expression:serum: PMID:32416070|REF_RGD_ID:30296676 11903451 CXCL16 C-X-C motif chemokine ligand 16 gene DOID:10533 viral pneumonia ISO RGD:1354459 D RGD:9068941 20200618 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11903451 CXCL16 C-X-C motif chemokine ligand 16 gene DOID:418 systemic scleroderma ISO RGD:1354459 D RGD:9068941 20200609 RGD protein:increased expression:serum, skin, endothelial cell PMID:21303517|REF_RGD_ID:5135279 11903451 CXCL16 C-X-C motif chemokine ligand 16 gene DOID:630 genetic disease ISO RGD:1354459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11903451 CXCL16 C-X-C motif chemokine ligand 16 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1354459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11903466 SKAP1 src kinase associated phosphoprotein 1 gene DOID:630 genetic disease ISO RGD:1354438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11903466 SKAP1 src kinase associated phosphoprotein 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1354438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20852632 11903487 CSAD cysteine sulfinic acid decarboxylase gene DOID:630 genetic disease ISO RGD:732204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11903487 CSAD cysteine sulfinic acid decarboxylase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 11903525 SIAE sialic acid acetylesterase gene DOID:0110877 holoprosencephaly 11 ISO RGD:1604014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11903525 SIAE sialic acid acetylesterase gene DOID:0111723 Jacobsen Syndrome ISO RGD:1604014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11903525 SIAE sialic acid acetylesterase gene DOID:417 autoimmune disease ISO RGD:1604014 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autoimmune disease, susceptibility to, 6 PMID:20555325|PMID:22257840|PMID:23011869|PMID:23308225|PMID:28492532|PMID:28900629 11903525 SIAE sialic acid acetylesterase gene DOID:417 autoimmune disease susceptibility ISO RGD:1604014 D RGD:7240710 20190502 OMIM 11903525 SIAE sialic acid acetylesterase gene DOID:5419 schizophrenia ISO RGD:1604014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11903525 SIAE sialic acid acetylesterase gene DOID:630 genetic disease ISO RGD:1604014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11903525 SIAE sialic acid acetylesterase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11903525 SIAE sialic acid acetylesterase gene DOID:9007661 Dwarfism ISO RGD:1604014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11903539 WNT5A Wnt family member 5A gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1353257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28726637 11903539 WNT5A Wnt family member 5A gene DOID:0060254 Robinow syndrome ISO RGD:1353257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11903539 WNT5A Wnt family member 5A gene DOID:0060254 Robinow syndrome ISO RGD:734385 D RGD:9068941 20220825 MouseDO 11903539 WNT5A Wnt family member 5A gene DOID:0060766 autosomal dominant Robinow syndrome 1 ISO RGD:1353257 D RGD:7240710 20180131 OMIM 11903539 WNT5A Wnt family member 5A gene DOID:0060766 autosomal dominant Robinow syndrome 1 ISO RGD:1353257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 PMID:16602827|PMID:18414213|PMID:19918918|PMID:24716670|PMID:25326635|PMID:25741868|PMID:28492532|PMID:29276006|PMID:30760477|PMID:5771504 11903539 WNT5A Wnt family member 5A gene DOID:219 colon cancer treatment ISO RGD:69250 D RGD:9068941 20211210 RGD PMID:28032729|REF_RGD_ID:150530464 11903539 WNT5A Wnt family member 5A gene DOID:2871 endometrial carcinoma ISO RGD:1353257 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:vs normal endometrium PMID:9099960|REF_RGD_ID:2291875 11903539 WNT5A Wnt family member 5A gene DOID:630 genetic disease ISO RGD:1353257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11903539 WNT5A Wnt family member 5A gene DOID:9002739 Female Urogenital Diseases ISO RGD:1353257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 11903539 WNT5A Wnt family member 5A gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1353257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25061499 11903539 WNT5A Wnt family member 5A gene DOID:9005172 Lung Neoplasms ISO RGD:1353257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23349696 11903539 WNT5A Wnt family member 5A gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1353257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19061910 11903552 KLHL22 kelch like family member 22 gene DOID:0060041 autism spectrum disorder ISO RGD:1602999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11903552 KLHL22 kelch like family member 22 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1602999 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 11903552 KLHL22 kelch like family member 22 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1602999 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 11903552 KLHL22 kelch like family member 22 gene DOID:1059 intellectual disability ISO RGD:1602999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11903552 KLHL22 kelch like family member 22 gene DOID:11198 DiGeorge syndrome ISO RGD:1602999 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 11903552 KLHL22 kelch like family member 22 gene DOID:11372 megacolon ISO RGD:1602999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11903552 KLHL22 kelch like family member 22 gene DOID:12583 velocardiofacial syndrome ISO RGD:1602999 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 11903552 KLHL22 kelch like family member 22 gene DOID:12849 autistic disorder ISO RGD:1602999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11903552 KLHL22 kelch like family member 22 gene DOID:1826 epilepsy ISO RGD:1602999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11903552 KLHL22 kelch like family member 22 gene DOID:2213 hemorrhagic disease ISO RGD:1602999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 11903552 KLHL22 kelch like family member 22 gene DOID:5419 schizophrenia ISO RGD:1602999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11903552 KLHL22 kelch like family member 22 gene DOID:612 primary immunodeficiency disease ISO RGD:1602999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11903552 KLHL22 kelch like family member 22 gene DOID:630 genetic disease ISO RGD:1602999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11903552 KLHL22 kelch like family member 22 gene DOID:9003871 Venous Thrombosis ISO RGD:1602999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 11903552 KLHL22 kelch like family member 22 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11903552 KLHL22 kelch like family member 22 gene DOID:9007661 Dwarfism ISO RGD:1602999 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11903562 PRRC2C proline rich coiled-coil 2C gene DOID:1540 parathyroid carcinoma ISO RGD:1351775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11903562 PRRC2C proline rich coiled-coil 2C gene DOID:630 genetic disease ISO RGD:1351775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11903562 PRRC2C proline rich coiled-coil 2C gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1351775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 11903562 PRRC2C proline rich coiled-coil 2C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:0050742 nicotine dependence ISO RGD:732613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20372150|PMID:20418890 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:0050742 nicotine dependence severity ISO RGD:732613 D RGD:9068941 20211203 RGD associated with smoking; DNA:SNP::rs1051730(human) PMID:29993116|REF_RGD_ID:150526806 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:0050742 nicotine dependence susceptibility ISO RGD:1343424 D RGD:9068941 20220304 RGD DNA:SNP:exon: (rs1051730) (human) PMID:21747048|REF_RGD_ID:151660346 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:0050742 nicotine dependence susceptibility ISO RGD:732613 D RGD:9068941 20211203 RGD DNA:SNP: :rs578776(human) PMID:19706762|REF_RGD_ID:150524362 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:10534 stomach cancer ISO RGD:732613 D RGD:9068941 20220128 RGD DNA:hypermethylation:CpG: PMID:21831520|REF_RGD_ID:151347539 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:11832 visual epilepsy ISO RGD:2345 D RGD:9068941 20200609 RGD PMID:15469883|REF_RGD_ID:1599607 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:1324 lung cancer ISO RGD:732613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung cancer susceptibility 2 PMID:18385676|PMID:18385738|PMID:18385739|PMID:28492532 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:1324 lung cancer onset ISO RGD:732613 D RGD:9068941 20220225 RGD DNA:SNP:exon 2: rs8040868(T>C) (human) PMID:29416783|REF_RGD_ID:151361155 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:1324 lung cancer susceptibility ISO RGD:732613 D RGD:7240710 20230517 OMIM 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:1574 alcohol use disorder ISO RGD:732613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18414406 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:1596 depressive disorder ISO RGD:2345 D RGD:9068941 20220128 RGD mRNA:decreased expression:habenula: PMID:28420875|REF_RGD_ID:151347550 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:1749 squamous cell carcinoma ISO RGD:732613 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:2717 Bloom syndrome ISO RGD:732613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:732613 D RGD:9068941 20211203 RGD associated with smoking; DNA:SNP: :rs1051730(human) PMID:26751916|REF_RGD_ID:150527850 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:732613 D RGD:9068941 20211203 RGD associated with smoking; DNA:SNP::rs1051730(human) PMID:29993116|REF_RGD_ID:150526806 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:732613 D RGD:9068941 20220128 RGD DNA:SNP: :rs12910984(human) PMID:23207642|REF_RGD_ID:151347538 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:732613 D RGD:9068941 20220128 RGD DNA:SNP: :rs6495309(human) PMID:23056235|REF_RGD_ID:151347536 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:732613 D RGD:9068941 20220128 RGD associated with smoking; DNA:SNP: :rs1051730(human) PMID:22441734|REF_RGD_ID:151347455 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3905 lung carcinoma susceptibility ISO RGD:732613 D RGD:9068941 20220128 RGD DNA:SNP: :rs1051730(human) PMID:24337855|REF_RGD_ID:151347533 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:732613 D RGD:9068941 20220128 RGD DNA:SNP: :rs6495309(human) PMID:22722785|REF_RGD_ID:151347532 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1343424 D RGD:9068941 20220304 RGD DNA:SNP:exon: (rs1051730) (human) PMID:21747048|REF_RGD_ID:151660346 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3910 lung adenocarcinoma ISO RGD:732613 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:732613 D RGD:9068941 20211203 RGD associated with smoking; DNA:SNP: :rs1051730(human) PMID:20554942|REF_RGD_ID:150527848 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:732613 D RGD:9068941 20220128 RGD DNA:SNP: :rs8042374(human) PMID:24686516|REF_RGD_ID:151347530 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:5409 lung small cell carcinoma ISO RGD:732613 D RGD:9068941 20211203 RGD mRNA:increased expression:lung PMID:20124469|REF_RGD_ID:150527851 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:5409 lung small cell carcinoma susceptibility ISO RGD:732613 D RGD:9068941 20220128 RGD DNA:SNP:cds:rs8040868(human) PMID:22280835|REF_RGD_ID:151347453 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:630 genetic disease ISO RGD:732613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:9001213 BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT ISO RGD:732613 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CHRNA3-related condition | ClinVar Annotator: match by term: Urinary bladder, atony of PMID:25741868|PMID:28492532|PMID:31708116 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:9001213 BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT susceptibility ISO RGD:732613 D RGD:7240710 20230517 OMIM 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:9001310 Tobacco Use Disorder ISO RGD:732613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18414406|PMID:29666375 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:9003420 Carbon Monoxide Poisoning ISO RGD:2345 D RGD:9068941 20220128 RGD PMID:24704181|REF_RGD_ID:151347543 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:9004283 Transplant Rejection ISO RGD:2345 D RGD:9068941 20220128 RGD PMID:25121092|REF_RGD_ID:151347544 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:9005172 Lung Neoplasms ISO RGD:732613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18385738 11903599 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:9256 colorectal cancer ISO RGD:732613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11903610 DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:0060612 abdominal obesity-metabolic syndrome 3 ISO RGD:1316288 D RGD:7240710 20180130 OMIM 11903610 DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:0060612 abdominal obesity-metabolic syndrome 3 ISO RGD:1316288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 PMID:24827035|PMID:25741868|PMID:28492532 11903610 DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1316288 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11903610 DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1316288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11903610 DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:1342 congenital hypoplastic anemia ISO RGD:1316288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11903610 DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:2340 craniosynostosis ISO RGD:1316288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11903610 DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:2661 myoepithelioma ISO RGD:1316288 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11903610 DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:630 genetic disease ISO RGD:1316288 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11903610 DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1316288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11903610 DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:9002762 Ovarian Neoplasms ISO RGD:1316288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20857490 11903610 DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:9269 maple syrup urine disease ISO RGD:1316288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11903610 DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:9352 type 2 diabetes mellitus ISO RGD:1316288 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11903624 BPIFA1 BPI fold containing family A member 1 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:736029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15513904 11903624 BPIFA1 BPI fold containing family A member 1 gene DOID:10754 otitis media ISO RGD:736030 D RGD:9068941 20220825 MouseDO OMIM:166760 11903624 BPIFA1 BPI fold containing family A member 1 gene DOID:630 genetic disease ISO RGD:736029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11903624 BPIFA1 BPI fold containing family A member 1 gene DOID:9005372 Inflammation ISO RGD:8770878 D RGD:9068941 20200609 RGD PMID:20949060|REF_RGD_ID:11554178 11903655 MTF1 metal regulatory transcription factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1319031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11903655 MTF1 metal regulatory transcription factor 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11903655 MTF1 metal regulatory transcription factor 1 gene DOID:12849 autistic disorder ISO RGD:1319031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15446388 11903655 MTF1 metal regulatory transcription factor 1 gene DOID:630 genetic disease ISO RGD:1319031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11903679 PCYT1B phosphate cytidylyltransferase 1B, choline gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11903679 PCYT1B phosphate cytidylyltransferase 1B, choline gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1348765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:19439424|PMID:19738637|PMID:24643514|PMID:26337422|PMID:28492532 11903679 PCYT1B phosphate cytidylyltransferase 1B, choline gene DOID:12849 autistic disorder ISO RGD:1348765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11903679 PCYT1B phosphate cytidylyltransferase 1B, choline gene DOID:630 genetic disease ISO RGD:1348765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11903679 PCYT1B phosphate cytidylyltransferase 1B, choline gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1348765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11903679 PCYT1B phosphate cytidylyltransferase 1B, choline gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11903710 ZNF383 zinc finger protein 383 gene DOID:630 genetic disease ISO RGD:1323532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11903729 NMRK2 nicotinamide riboside kinase 2 gene DOID:13938 amenorrhea ISO RGD:1344874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11903729 NMRK2 nicotinamide riboside kinase 2 gene DOID:630 genetic disease ISO RGD:1344874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11903745 LOC100967961 ATPase family AAA domain-containing protein 3B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1347003 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11903745 LOC100967961 ATPase family AAA domain-containing protein 3B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1347003 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11903745 LOC100967961 ATPase family AAA domain-containing protein 3B gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1347003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11903745 LOC100967961 ATPase family AAA domain-containing protein 3B gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1347003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11903745 LOC100967961 ATPase family AAA domain-containing protein 3B gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1347003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11903745 LOC100967961 ATPase family AAA domain-containing protein 3B gene DOID:0110994 Joubert syndrome 25 ISO RGD:1347003 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11903745 LOC100967961 ATPase family AAA domain-containing protein 3B gene DOID:0111934 immunodeficiency 38 ISO RGD:1347003 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11903745 LOC100967961 ATPase family AAA domain-containing protein 3B gene DOID:0111935 immunodeficiency 16 ISO RGD:1347003 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11903745 LOC100967961 ATPase family AAA domain-containing protein 3B gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1347003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11903745 LOC100967961 ATPase family AAA domain-containing protein 3B gene DOID:630 genetic disease ISO RGD:1347003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11903745 LOC100967961 ATPase family AAA domain-containing protein 3B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11903745 LOC100967961 ATPase family AAA domain-containing protein 3B gene DOID:9006186 Harel-Yoon Syndrome ISO RGD:1347003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Harel-Yoon syndrome PMID:25741868 11903745 LOC100967961 ATPase family AAA domain-containing protein 3B gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1347003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11903745 LOC100967961 ATPase family AAA domain-containing protein 3B gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1347003 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11903762 RO60 Ro60, Y RNA binding protein gene DOID:1540 parathyroid carcinoma ISO RGD:1312904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11903762 RO60 Ro60, Y RNA binding protein gene DOID:630 genetic disease ISO RGD:1312904 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11903762 RO60 Ro60, Y RNA binding protein gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1312904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:28774260 11903762 RO60 Ro60, Y RNA binding protein gene DOID:9074 systemic lupus erythematosus ISO RGD:1624075 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 11903762 RO60 Ro60, Y RNA binding protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11903784 RD3 RD3 regulator of GUCY2D gene DOID:0110080 Leber congenital amaurosis 12 ISO RGD:1603852 D RGD:7240710 20180130 OMIM 11903784 RD3 RD3 regulator of GUCY2D gene DOID:0110080 Leber congenital amaurosis 12 ISO RGD:1603852 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 12 PMID:17186464|PMID:17576681|PMID:20301475|PMID:21928830|PMID:22531706|PMID:23301801|PMID:23308101|PMID:24265693|PMID:24516651|PMID:25741868|PMID:27422788|PMID:28492532|PMID:29068479|PMID:9536098 11903784 RD3 RD3 regulator of GUCY2D gene DOID:0110080 Leber congenital amaurosis 12 treatment ISO RGD:1614303 D RGD:9068941 20200609 RGD PMID:23740938|REF_RGD_ID:11560490 11903784 RD3 RD3 regulator of GUCY2D gene DOID:14791 Leber congenital amaurosis ISO RGD:1603852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 11903784 RD3 RD3 regulator of GUCY2D gene DOID:1540 parathyroid carcinoma ISO RGD:1603852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11903784 RD3 RD3 regulator of GUCY2D gene DOID:630 genetic disease ISO RGD:1603852 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11903784 RD3 RD3 regulator of GUCY2D gene DOID:8466 retinal degeneration ISO RGD:1603852 D RGD:9068941 20200609 RGD DNA:mutations:splice junction,cds: PMID:17186464|REF_RGD_ID:11560484 11903784 RD3 RD3 regulator of GUCY2D gene DOID:8466 retinal degeneration ISO RGD:1614303 D RGD:9068941 20200609 RGD DNA:nonsense mutation:cds: PMID:17186464|REF_RGD_ID:11560484 11903784 RD3 RD3 regulator of GUCY2D gene DOID:9008296 Eye Abnormalities ISO RGD:1603852 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:23308101|PMID:25741868|PMID:28492532 11903784 RD3 RD3 regulator of GUCY2D gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:0050073 invasive aspergillosis severity ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:11160230|REF_RGD_ID:11528533 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:0050700 cardiomyopathy ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:myocardium PMID:18806609|REF_RGD_ID:2307006 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:0050848 obstructive sleep apnea ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20855682|REF_RGD_ID:4891459 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:3645 D RGD:9068941 20220715 RGD associated with social isolation;protein:increased expression:tongue (rat) PMID:33411841|REF_RGD_ID:152998999 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:731046 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotype::2518A>G(human) PMID:21883707|REF_RGD_ID:8661694 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:0060180 colitis ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:18690297|REF_RGD_ID:2307009 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:0080016 spina bifida ISO RGD:731046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spina bifida, susceptibility to PMID:11500196|PMID:15466648|PMID:16352737|PMID:16596675|PMID:18940815 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:0080074 neural tube defect ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:0080158 herpes simplex virus keratitis severity ISO RGD:11275 D RGD:9068941 20200609 RGD associated with Herpes Simplex, Type 1 PMID:16997857|REF_RGD_ID:8548890 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:0080162 lupus nephritis severity ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:urine (human) PMID:8558841|REF_RGD_ID:8549732 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:0080162 lupus nephritis susceptibility ISO RGD:731046 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-2518A>G (human) PMID:15188361|REF_RGD_ID:11528534 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:25813056|REF_RGD_ID:14995922 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:24927058|REF_RGD_ID:14995928 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:11275 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:30369082|REF_RGD_ID:14995462 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:731046 D RGD:9068941 20200609 RGD RNA:increased expression:liver: PMID:24429361|REF_RGD_ID:14975280 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:0080547 non-alcoholic steatohepatitis susceptibility ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:20606728|REF_RGD_ID:21076282 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:0080599 Coronavirus infectious disease ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20484496 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:0080600 COVID-19 ISO RGD:731046 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:0080600 COVID-19 ISO RGD:731046 D RGD:9068941 20200618 RGD protein:increased expression:serum: PMID:32416070|REF_RGD_ID:30296676 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:0080600 COVID-19 ISO RGD:731046 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:0080600 COVID-19 ISO RGD:731046 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:31986264 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:0080600 COVID-19 severity ISO RGD:731046 D RGD:9068941 20200618 RGD protein:increased expression:serum (human) PMID:32427582|REF_RGD_ID:30309200 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:0080600 COVID-19 severity ISO RGD:731046 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|PMID:32360286|REF_RGD_ID:30309209|REF_RGD_ID:30309212 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:11275 D RGD:9068941 20200618 RGD PMID:30626685|REF_RGD_ID:30309198 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:0080998 acute necrotizing pancreatitis severity ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:18642776|REF_RGD_ID:2307010 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:0080998 acute necrotizing pancreatitis treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:19050604|REF_RGD_ID:11062108 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:0081120 Graves ophthalmopathy ISO RGD:731046 D RGD:9068941 20200609 RGD mRNA:increased expression:orbital fat (human) PMID:18284633|REF_RGD_ID:8549459 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:10325 silicosis ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26163174 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:10533 viral pneumonia ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:19617401|REF_RGD_ID:4891451 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:1063 interstitial nephritis ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10385480 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:10762 portal hypertension ISO RGD:731046 D RGD:9068941 20200609 RGD associated with biliary atresia; PMID:17161183|REF_RGD_ID:14995924 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:10763 hypertension ISO RGD:3645 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA, protein:increased expression:kidney cortex, urine PMID:18459944|REF_RGD_ID:2307029 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:10763 hypertension ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:17989143|REF_RGD_ID:2307054 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:10763 hypertension ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20667508|PMID:27292124 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:10763 hypertension treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:17922026|REF_RGD_ID:8549771 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:10871 age related macular degeneration ISO RGD:11275 D RGD:9068941 20220825 MouseDO 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:10873 Kuhnt-Junius degeneration severity ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor of eyeball (human) PMID:20937997|REF_RGD_ID:8548855 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:10941 intracranial aneurysm ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:19164781|REF_RGD_ID:2307000 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:10941 intracranial aneurysm ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA:increased expression:circle of Willis (rat) PMID:25316629|REF_RGD_ID:11522723 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:10952 nephritis ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Purpura, Schoenlein-Henoch;protein:increased expression:urine (human) PMID:24414608|REF_RGD_ID:11528565 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:25839768|REF_RGD_ID:11528567 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:11123 Henoch-Schoenlein purpura susceptibility ISO RGD:731046 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-2518C>T (human) PMID:26234573|REF_RGD_ID:11522500 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:1115 sarcoma ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:25667449|REF_RGD_ID:11528521 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:11204 allergic conjunctivitis ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:19553621|REF_RGD_ID:8548840 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:11339 pneumocystosis ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:20618689|REF_RGD_ID:4891428 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:11396 pulmonary edema ISO RGD:3645 D RGD:9068941 20200609 RGD associated with Shock, Septic;protein:increased expression:lung PMID:18555988|REF_RGD_ID:2307014 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:11446 sciatic neuropathy ISO RGD:11275 D RGD:9068941 20200609 RGD protein:increased expression:lumbar dorsal root ganglion (mouse) PMID:22564672|REF_RGD_ID:8549487 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:11446 sciatic neuropathy ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord dorsal horn, axon terminal (rat) PMID:19059387|REF_RGD_ID:2307005 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:1168 familial hyperlipidemia treatment ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:19525846|REF_RGD_ID:11528561 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:11713 diabetic angiopathy treatment ISO RGD:3645 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23154660|REF_RGD_ID:11526153 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:11714 gestational diabetes ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:18702087|REF_RGD_ID:2306986 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641384 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:1205 allergic disease ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15585374|PMID:21625544 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:12053 cryptococcosis ISO RGD:11275 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (mouse) PMID:11714821|REF_RGD_ID:11528563 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:12140 Chagas disease ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:16844401|REF_RGD_ID:2307145 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:12351 alcoholic hepatitis ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:21826694|REF_RGD_ID:14995491 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:12351 alcoholic hepatitis ISO RGD:731046 D RGD:9068941 20200609 RGD RNA:increased expression:liver: PMID:24429361|REF_RGD_ID:14975280 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:12351 alcoholic hepatitis severity ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:10446112|REF_RGD_ID:14995467 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:12554 hemolytic-uremic syndrome ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:10201001|REF_RGD_ID:11528527 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:12842 Guillain-Barre syndrome disease_progression ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:12507779|REF_RGD_ID:8549645 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:12849 autistic disorder ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:21095018|REF_RGD_ID:8548858 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:1287 cardiovascular system disease ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16332659 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:1287 cardiovascular system disease ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:15627719|REF_RGD_ID:1581158 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:12932 endomyocardial fibrosis ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:14967845|REF_RGD_ID:1581155 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:13100 intracranial vasospasm ISO RGD:3645 D RGD:9068941 20200609 RGD associated with Subarachnoid Hemorrhage;mRNA, protein:increased expression:basilar artery PMID:19401162|REF_RGD_ID:2306995 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:13139 crescentic glomerulonephritis ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:8903512|REF_RGD_ID:8549743 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:13139 crescentic glomerulonephritis treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:17314328|REF_RGD_ID:8549770 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:13141 uveitis ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor PMID:16698015|REF_RGD_ID:8549475 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:13141 uveitis ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor (human) PMID:17591667|REF_RGD_ID:8549485 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;protein:increased expression:vitreous humor (human) PMID:21850157|REF_RGD_ID:8549477 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:13207 proliferative diabetic retinopathy disease_progression ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphism:promoter:g.-2518A>G (human) PMID:23549806|REF_RGD_ID:8548851 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:13241 Behcet's disease ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:12712358|REF_RGD_ID:8549488 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:13241 Behcet's disease susceptibility ISO RGD:731046 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-2518A>G (human) PMID:19782713|REF_RGD_ID:8548882 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:13375 temporal arteritis ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:15742444|REF_RGD_ID:1581162 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:13413 hepatic encephalopathy ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brain, liver,serum: PMID:29518527|REF_RGD_ID:14995926 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:13603 obstructive jaundice treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:15573249|REF_RGD_ID:8549649 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:1407 anterior uveitis ISO RGD:3645 D RGD:9068941 20200609 RGD associated with Encephalomyelitis, Autoimmune, Experimental;mRNA, protein:increased expression:iris, ciliary body, lumbar spinal cord (rat) PMID:9404715|REF_RGD_ID:8549473 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:1407 anterior uveitis ISO RGD:731046 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs1024610 (human) PMID:16950632|REF_RGD_ID:8661673 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:1407 anterior uveitis susceptibility ISO RGD:731046 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-2518A>G (human) PMID:16280979|REF_RGD_ID:8548843 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:14115 toxic shock syndrome disease_progression ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:28834779|REF_RGD_ID:14995949 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:1474 aggressive periodontitis susceptibility ISO RGD:731046 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotype::2518A>G(human) PMID:21264360|REF_RGD_ID:8661707 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:1485 cystic fibrosis ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:20438838|REF_RGD_ID:4143275 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:1532 pleural disease ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10923243 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:1564 fungal infectious disease ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:sinus: PMID:22287435|REF_RGD_ID:7483612 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:1588 thrombocytopenia ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;DNA:snp:promoter:g.-2518A>G (human) PMID:20414371|REF_RGD_ID:11528535 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:1749 squamous cell carcinoma ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25199511 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:182 calcinosis ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21193197|PMID:21335463 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:1824 status epilepticus ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:17950261|REF_RGD_ID:2307057 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:1824 status epilepticus ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19490431|PMID:20034406 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:1936 atherosclerosis ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12677255|PMID:12928151|PMID:20720404 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:1936 atherosclerosis severity ISO RGD:11275 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta (mouse) PMID:15823270|REF_RGD_ID:7401235 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:1936 atherosclerosis treatment ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:11486244|REF_RGD_ID:8548896 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:2018 hyperinsulinism ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta (rat) PMID:17180354|REF_RGD_ID:8549642 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:2018 hyperinsulinism ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:2048 autoimmune hepatitis ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:219 colon cancer ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:21268133|REF_RGD_ID:5135051 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:224 transient cerebral ischemia ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (rat) PMID:7860708|REF_RGD_ID:8549729 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:224 transient cerebral ischemia treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:21487414|REF_RGD_ID:8549519 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:2316 brain ischemia ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:19260320|REF_RGD_ID:2306998 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:2316 brain ischemia ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914|PMID:17394460 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:2349 arteriosclerosis ISO RGD:11275 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:aorta PMID:18093596|REF_RGD_ID:2306988 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:2355 anemia treatment ISO RGD:11275 D RGD:9068941 20200609 RGD associated with Colonic Neoplasms PMID:24963216|REF_RGD_ID:11528557 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:2377 multiple sclerosis ISO RGD:731046 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype PMID:19865101|REF_RGD_ID:4145472 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:2518 orchitis ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:testicle, fluid (rat) PMID:14638441|REF_RGD_ID:1358455 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:2773 contact dermatitis ISO RGD:11275 D RGD:9068941 20200609 RGD protein:increased expression:serum (mouse) PMID:22679019|REF_RGD_ID:9590167 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:2799 bronchiolitis obliterans ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:14611812|REF_RGD_ID:2307195 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:2841 asthma ISO RGD:11275 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:12055264|REF_RGD_ID:11528570 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:2841 asthma ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:17964702|REF_RGD_ID:2307055 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:2841 asthma ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19373627 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:2841 asthma ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:20205697|REF_RGD_ID:4145509 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:2841 asthma ISO RGD:731046 D RGD:9068941 20200609 RGD DNA:haplotype::-2518A>G (human) PMID:23454776|REF_RGD_ID:8551842 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:2841 asthma severity ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19373627|REF_RGD_ID:4891466 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:2841 asthma treatment ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:25441643|REF_RGD_ID:11528569 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:289 endometriosis ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:peritoneal fluid (human) PMID:15005786|REF_RGD_ID:11528566 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:2920 membranoproliferative glomerulonephritis treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:10411686|REF_RGD_ID:8549648 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:2921 glomerulonephritis ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10385480 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:11275 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:11275 D RGD:9068941 20200619 RGD mRNA, protein: increased expression, altered expression:lung (mouse) PMID:15356152|REF_RGD_ID:30309221 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20484496 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:731046 D RGD:9068941 20200702 RGD protein:increased expression:bronchoalveolar lavage (human) PMID:15888207|REF_RGD_ID:34201108 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:731046 D RGD:9068941 20200702 RGD protein:increased expression:serum (human) PMID:15602737|REF_RGD_ID:32716399 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:731046 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:16195357|REF_RGD_ID:30309218 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:731046 D RGD:9068941 20200619 RGD protein:increased expression:serum (human) PMID:15657466|REF_RGD_ID:30309219 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:11275 D RGD:9068941 20200702 RGD PMID:32553273|REF_RGD_ID:32716426 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:731046 D RGD:9068941 20200619 RGD PMID:15781938|REF_RGD_ID:30309220 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:2957 pulmonary tuberculosis ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16352737|PMID:18940815 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:731046 D RGD:9068941 20200609 RGD DNA:polymorphism: :-2518A>G (human) PMID:20111728|REF_RGD_ID:4891439 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:2986 IgA glomerulonephritis ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:18433541|REF_RGD_ID:2307041 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:3071 gliosarcoma severity ISO RGD:11275 D RGD:9068941 20200609 RGD mouse gene in a rat model PMID:7489565|REF_RGD_ID:11526112 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:3082 interstitial lung disease ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid;protein:increased expression:serum PMID:20056091|REF_RGD_ID:4891442 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:3082 interstitial lung disease ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;protein:increased expression:plasma PMID:20404807|REF_RGD_ID:4142853 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:3082 interstitial lung disease ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;protein:increased expression:respiratory system fluid/secretion PMID:19615053|REF_RGD_ID:4891453 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:3082 interstitial lung disease treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:1387671|REF_RGD_ID:8549558 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20497022|REF_RGD_ID:4891429 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:731046 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:34652871 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:326 ischemia ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:15308783|REF_RGD_ID:1581163 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:3312 bipolar disorder ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:15034225|REF_RGD_ID:1358456 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:3393 coronary artery disease ISO RGD:731046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease, modifier of PMID:11500196|PMID:15466648|PMID:16352737|PMID:16596675|PMID:18940815 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:3407 carotid artery disease ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18022660 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12374626|PMID:23043544|PMID:25257527 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:3526 cerebral infarction treatment ISO RGD:11275 D RGD:9068941 20220930 RGD PMID:29111308|REF_RGD_ID:155260331 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:3612 retinitis ISO RGD:11275 D RGD:9068941 20200609 RGD protein:increased expression:retina (mouse) PMID:25159208|REF_RGD_ID:11528560 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:3770 pulmonary fibrosis ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:20833968|REF_RGD_ID:4145112 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:3770 pulmonary fibrosis ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung, eosinophil (rat) PMID:7525714|REF_RGD_ID:8549730 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:3770 pulmonary fibrosis ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16324872|PMID:17720292|PMID:26163174 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30418988 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:399 tuberculosis ISO RGD:731046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to PMID:11500196|PMID:15466648|PMID:16352737|PMID:16596675|PMID:18940815 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:4029 gastritis treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:23892052|REF_RGD_ID:11526150 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:4079 heart valve disease ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:409 liver disease ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17125873 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:418 systemic scleroderma ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:19615053|REF_RGD_ID:4891453 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:418 systemic scleroderma ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21285114|REF_RGD_ID:5683876 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:418 systemic scleroderma severity ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:21049277|REF_RGD_ID:5135284 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:4195 hyperglycemia ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:4448 macular degeneration ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:14566334|PMID:24142887|REF_RGD_ID:8548856|REF_RGD_ID:8661224 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:4448 macular degeneration ISO RGD:11275 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:retina PMID:24142887|REF_RGD_ID:8661224 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:4448 macular degeneration ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:17652758|REF_RGD_ID:9491385 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:4448 macular degeneration severity ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor (human) PMID:22172228|REF_RGD_ID:8549496 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:4449 macular retinal edema ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Retinal Vein Occlusion;protein:increased expression:vitreous humor (human) PMID:22066978|REF_RGD_ID:7829760 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:4449 macular retinal edema ISO RGD:731046 D RGD:9068941 20221014 RGD associated with central retinal vein occlusion;protein:increased expression:aqueous humor of eyeball (human) PMID:35799735|REF_RGD_ID:155582223 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:4449 macular retinal edema severity ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Diabetic Retinopathy;protein:increased expression:vitreous humor PMID:19118698|REF_RGD_ID:2306981 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:21894146|REF_RGD_ID:6218988 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:17898087|REF_RGD_ID:2307059 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:4780 anti-basement membrane glomerulonephritis treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:20071465|REF_RGD_ID:4145614 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:4989 pancreatitis ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:18297440|PMID:19111613|REF_RGD_ID:2307002|REF_RGD_ID:2307046 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:4989 pancreatitis ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:16284287|REF_RGD_ID:8549548 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:50 thyroid gland disease ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:5082 liver cirrhosis ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20697377 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:5199 ureteral obstruction ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:731046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:14571188 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:5327 retinal detachment ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:17284607|REF_RGD_ID:8548846 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:5327 retinal detachment ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor (human) PMID:19139725|REF_RGD_ID:2316760 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:5419 schizophrenia ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18486454 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:552 pneumonia ISO RGD:11275 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:19648283|REF_RGD_ID:4891461 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:552 pneumonia ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:557 kidney disease ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:15882261|REF_RGD_ID:2307176 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:5844 myocardial infarction ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18459941|REF_RGD_ID:2307033 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:5844 myocardial infarction ISO RGD:731046 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-2518A>G (human) PMID:16116069|REF_RGD_ID:1581161 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:5844 myocardial infarction treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:18753699|REF_RGD_ID:8549616 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:6000 congestive heart failure ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:12950323|REF_RGD_ID:1581156 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:6000 congestive heart failure ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29959987 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:630 genetic disease ISO RGD:731046 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:631 fibromyalgia ISO RGD:731046 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:19924498|REF_RGD_ID:14995946 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:6432 pulmonary hypertension ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:bronchoalveolar lavage fluid (rat) PMID:9605182|REF_RGD_ID:8549547 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:6432 pulmonary hypertension ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:lung, plasma PMID:19087668|REF_RGD_ID:2307003 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:6432 pulmonary hypertension ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15302794|PMID:30418988 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:684 hepatocellular carcinoma ISO RGD:731046 D RGD:9068941 20200609 RGD RNA:increased expression:liver PMID:27980102|REF_RGD_ID:14995459 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:27980102|REF_RGD_ID:14995459 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:12679798|PMID:22402625|REF_RGD_ID:14995468|REF_RGD_ID:14995927 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:7148 rheumatoid arthritis ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20056091|REF_RGD_ID:4891442 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:7693 abdominal aortic aneurysm ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:18482727|REF_RGD_ID:2307015 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:783 end stage renal disease ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:renal proximal tubule (rat) PMID:12080327|REF_RGD_ID:8549739 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:783 end stage renal disease ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19420110|PMID:19539174 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:783 end stage renal disease susceptibility ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:-2518A>G (human) PMID:17982227|REF_RGD_ID:2306990 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:783 end stage renal disease treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:18797164|REF_RGD_ID:2307007 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:801 hemarthrosis ISO RGD:11275 D RGD:9068941 20200609 RGD associated with Hemophilia A;protein:increased expression:synovial fluid (mouse) PMID:19444976|REF_RGD_ID:11528538 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:811 lipodystrophy ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:16697654|REF_RGD_ID:1581157 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:820 myocarditis severity ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:11472393|REF_RGD_ID:8549580 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:823 periapical periodontitis ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:24631631|REF_RGD_ID:8661717 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:824 periodontitis ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:gingiva PMID:17876613|REF_RGD_ID:2306992 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:8466 retinal degeneration ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20361964 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:8469 influenza ISO RGD:11275 D RGD:9068941 20200609 RGD associated with Asthma;protein:decreased expression:alveolar system (mouse) PMID:12707338|REF_RGD_ID:4145439 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:850 lung disease ISO RGD:3645 D RGD:9068941 20200609 RGD Acute Lung Injury;mRNA:increased expression:lung PMID:17304115|REF_RGD_ID:2307141 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:850 lung disease ISO RGD:3645 D RGD:9068941 20200609 RGD associated with Contusions;protein:increased expression:respiratory system fluid/secretion PMID:19515386|REF_RGD_ID:4891456 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:8566 herpes simplex ISO RGD:11275 D RGD:9068941 20200609 RGD mRNA:increased expression:cornea (mouse) PMID:9544579|REF_RGD_ID:8549472 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:874 bacterial pneumonia ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:20042590|REF_RGD_ID:4891443 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:8778 Crohn's disease ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21829567 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:8923 skin melanoma disease_progression ISO RGD:731046 D RGD:9068941 20200609 RGD DNA:SNP: :2578A>G (human) PMID:17169533|REF_RGD_ID:9491398 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:8947 diabetic retinopathy ISO RGD:3645 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:retina (rat) PMID:23010641|REF_RGD_ID:8548887 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9000226 Periodontal Cyst ISO RGD:731046 D RGD:9068941 20200609 RGD mRNA:increased expression:gingiva: PMID:16101967|REF_RGD_ID:8661719 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19247846|REF_RGD_ID:14995923 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9000310 Lung Injury ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19762220 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9000641 Pain ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:18419759|REF_RGD_ID:2307043 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9000722 Animal Hepatitis treatment ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:27980102|REF_RGD_ID:14995459 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:19762564|REF_RGD_ID:4891460 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12388339 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:11275 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:19629725|REF_RGD_ID:4891450 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9000998 Brain Injuries ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:brain, neuron PMID:19210118|REF_RGD_ID:2306999 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9000998 Brain Injuries ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9000998 Brain Injuries treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:11113322|REF_RGD_ID:9587789 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9001004 Chronic Periodontitis ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:20059422|REF_RGD_ID:8661721 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:17389519|REF_RGD_ID:8548832 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9001205 Experimental Autoimmune Orchitis ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:testis (rat) PMID:14638441|REF_RGD_ID:1358455 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:3645 D RGD:9068941 20200609 RGD L5 spinal nerve;proein:increased expression:rostral ventrolateral medulla (rat) PMID:22466130|REF_RGD_ID:8549494 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9001427 Geographic Atrophy ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor of eyeball PMID:24142887|REF_RGD_ID:8661224 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9001472 Nasal Polyps ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:sinus: PMID:22287435|REF_RGD_ID:7483612 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9001488 Human Influenza ISO RGD:11275 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:20967263|REF_RGD_ID:4891425 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9001488 Human Influenza ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9001553 Spinal Cord Compression ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, serum (rat) PMID:15855648|REF_RGD_ID:11526154 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9001553 Spinal Cord Compression ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15135227 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:19144177|REF_RGD_ID:2307001 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15492853 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:28437891|REF_RGD_ID:14995945 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:15492853|REF_RGD_ID:8549576 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9001606 Acute Anterior Uveitis severity ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor (human) PMID:9426952|REF_RGD_ID:8549479 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9001614 Chronic Tubulointerstitial Nephropathy ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:10844611|PMID:11135063|REF_RGD_ID:10755562|REF_RGD_ID:8549481 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:24325836|REF_RGD_ID:11526144 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, serum (rat) PMID:9500701|REF_RGD_ID:8549627 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9002159 Liver Reperfusion Injury severity ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:27229110|REF_RGD_ID:14995460 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:10630515|REF_RGD_ID:14995929 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:3645 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney PMID:19369290|REF_RGD_ID:2306980 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:3645 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA:increased expression:kidney PMID:18031723|REF_RGD_ID:2306989 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16374426 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:urine PMID:19097668|REF_RGD_ID:2306982 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:19409809|REF_RGD_ID:2306979 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:11275 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17968528|REF_RGD_ID:2306991 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9002211 Hyperalgesia ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:20737477|REF_RGD_ID:8548848 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9002211 Hyperalgesia ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:18419759|PMID:22531750|REF_RGD_ID:2307043|REF_RGD_ID:8548845 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9002211 Hyperalgesia ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion, spinal cord (rat) PMID:21712071|REF_RGD_ID:8548873 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9002211 Hyperalgesia ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17881535 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:11275 D RGD:9068941 20200609 RGD associated with Schistosomiasis mansoni PMID:12600821|REF_RGD_ID:4145441 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9002287 Respiratory Tract Granuloma treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:9042155|REF_RGD_ID:8549740 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9002311 Experimental Autoimmune Myocarditis disease_progression ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart, serum (rat) PMID:11472393|REF_RGD_ID:8549580 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9002371 Cardiotoxicity ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29959987 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9002457 Experimental Arthritis ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:18292571|PMID:18726678|REF_RGD_ID:2307008|REF_RGD_ID:2307052 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9002457 Experimental Arthritis ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:synovium PMID:17052673|REF_RGD_ID:2307143 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:24583103|REF_RGD_ID:11526142 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:23032084|REF_RGD_ID:14995948 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:dermis, neutrophil (rat) PMID:8774140|REF_RGD_ID:8549532 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9002633 Premature Obstetric Labor ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18606702 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9002669 Hypoxia ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:20813992|REF_RGD_ID:8549511 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA:decreased expression:lymph node PMID:19865101|REF_RGD_ID:4145472 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA:increased expression:optic chiasma (rat) PMID:11241588|REF_RGD_ID:8548888 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:17666800|REF_RGD_ID:2307114 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9002906 Multiple Organ Failure ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:serum, peritoneal fluid (rat) PMID:15793719|REF_RGD_ID:8549633 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:11275 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (mouse) PMID:16710171|REF_RGD_ID:8548878 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:19038868|REF_RGD_ID:11526145 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:11275 D RGD:9068941 20200609 RGD mRNA:increased expression:cochlea (mouse) PMID:17081714|REF_RGD_ID:8549464 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:731046 D RGD:9068941 20200609 RGD human gene in mouse model PMID:16224495|REF_RGD_ID:8548881 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9003219 Invasive Pulmonary Aspergillosis treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:12917249|REF_RGD_ID:11528529 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9003617 Carrington Syndrome ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:alveolar system (human) PMID:11488333|REF_RGD_ID:11528564 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:nasal turbinate, mucosa (human) PMID:9865755|REF_RGD_ID:8548839 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:forebrain (rat) PMID:9270493|REF_RGD_ID:8549543 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9003779 Vasculitis of the Skin susceptibility ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;DNA:snp:promoter:g.-2518A>G (human) PMID:11844145|REF_RGD_ID:11528536 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9003871 Venous Thrombosis ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:vein PMID:18167211|REF_RGD_ID:2307053 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9003969 Peri-Implantitis ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:20059422|REF_RGD_ID:8661721 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9004009 Reperfusion Injury ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12468449|PMID:15829914 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9004009 Reperfusion Injury treatment ISO RGD:3645 D RGD:9068941 20200609 RGD Gastric Reperfusion Injury PMID:22611311|REF_RGD_ID:8549744 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9004017 Chronic Hepatitis C ISO RGD:731046 D RGD:9068941 20200609 RGD RNA:increased expression:liver: PMID:24429361|REF_RGD_ID:14975280 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9004059 Eye Neoplasms ISO RGD:11275 D RGD:9068941 20200609 RGD mRNA:increased expression:eye (mouse) PMID:18958307|REF_RGD_ID:8549483 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9004283 Transplant Rejection ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:14662900|REF_RGD_ID:8657367 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9004283 Transplant Rejection susceptibility ISO RGD:731046 D RGD:9068941 20200609 RGD kidney;DNA:snp:promoter:g.-2518A>G (human) PMID:12239249|REF_RGD_ID:8548879 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9004484 Sepsis ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum PMID:19111613|REF_RGD_ID:2307002 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731046 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:25199511|PMID:32512068 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9004590 Acute Liver Failure ISO RGD:731046 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:8283136|REF_RGD_ID:8549567 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9004590 Acute Liver Failure ISO RGD:731046 D RGD:9068941 20200609 RGD protein, mRNA:increased expression:serum, liver PMID:12579535|REF_RGD_ID:14995451 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9004610 Acute Lung Injury ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:21767135|REF_RGD_ID:6480432 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9004912 Hyperoxaluria ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16284884 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9004974 Painful Neuropathy ISO RGD:11275 D RGD:9068941 20200609 RGD protein:increased expression:medulla oblongata, dorsal horn of spinal cord (mouse) PMID:22721162|REF_RGD_ID:8548831 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9004974 Painful Neuropathy ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:ipsilateral side, dorsal root ganglion (rat) PMID:15041200|REF_RGD_ID:8548884 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9005036 Bacteremia ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Febrile Neutropenia;protein:increased expression:serum (human) PMID:22584776|REF_RGD_ID:11528568 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9005166 Contusions ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16832247|REF_RGD_ID:2307147 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9005372 Inflammation ISO RGD:3645 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:aorta PMID:20921064|REF_RGD_ID:4891427 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9005372 Inflammation ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14570645|PMID:19762220|PMID:20816778 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:gingiva PMID:17876613|REF_RGD_ID:2306992 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18976114|REF_RGD_ID:2306984 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:16891764|REF_RGD_ID:8549535 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA:increased expression:iris, ciliary body, popliteal lymph nodes (rat) PMID:15109911|REF_RGD_ID:8549495 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9005930 Endotoxemia ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19060786|REF_RGD_ID:2307004 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9006182 Carotid Artery Injuries treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:15353495|REF_RGD_ID:11526152 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9006182 Carotid Artery Injuries treatment ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:12223446|REF_RGD_ID:8549774 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:11275 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney, lung, serum PMID:20396927|REF_RGD_ID:4891433 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:18650485|REF_RGD_ID:11526113 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9006559 Granulomatous Vasculitis ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:8231108|REF_RGD_ID:8549573 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9006614 Lower Extremity Deep Vein Thrombosis ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;protein:increased expression:serum (human) PMID:16273763|REF_RGD_ID:8548850 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9006618 Liver Metastasis disease_progression ISO RGD:731046 D RGD:9068941 20200609 RGD associated with colorectal cancer PMID:27058904|REF_RGD_ID:14995463 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:11275 D RGD:9068941 20200609 RGD mRNA:increased expression:eye: PMID:12605265|REF_RGD_ID:8661671 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16188961|PMID:18486454 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9006684 Inflammatory Breast Neoplasms ISO RGD:731046 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32512068 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:731046 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32512068 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:731046 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9006939 Lyme Neuroborreliosis ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:16358960|REF_RGD_ID:11528571 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9006944 Alcoholic Fatty Liver treatment ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:25557254|REF_RGD_ID:14995489 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9007096 Stroke ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:brain, neuron PMID:18473828|REF_RGD_ID:2307024 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9007096 Stroke ISO RGD:731046 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-2518A>G (human) PMID:15308783|REF_RGD_ID:1581163 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:plasma, heart (rat) PMID:10068207|REF_RGD_ID:8549542 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25199511 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9007364 Mouth Neoplasms no_association ISO RGD:731046 D RGD:9068941 20200609 RGD DNA:polymorphism::2518G>A(human) PMID:21570337|REF_RGD_ID:8661698 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:21813474|PMID:30663942|REF_RGD_ID:14995458|REF_RGD_ID:14995466 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9007692 Insulin Resistance ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:22983634|REF_RGD_ID:8548844 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9007692 Insulin Resistance ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Obesity in Diabetes;DNA:polymorphism:promoter:-2518A>G (human) PMID:18762729|REF_RGD_ID:2306985 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17380299 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9007752 Chronic Relapsing Experimental Autoimmune Encephalomyelitis ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord (rat) PMID:12098510|REF_RGD_ID:8655962 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA:increased expression:small intestine PMID:18475188|REF_RGD_ID:2307016 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (rat) PMID:10908159|REF_RGD_ID:8549625 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12087064 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9007988 Granulomatous Interstitial Nephritis ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney, serum (rat) PMID:20231821|REF_RGD_ID:11526149 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9008163 Chronic Hepatitis B ISO RGD:731046 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:26281331|REF_RGD_ID:14995947 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9008313 Febrile Neutropenia ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Hematologic Diseases;protein:increased expression:plasma (human) PMID:23369970|REF_RGD_ID:11528559 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9008414 Pulmonary Contusion ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:alveolar system (rat) PMID:16044083|REF_RGD_ID:11060268 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9008609 Endotoxin-Induced Uveitis treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:18087711|REF_RGD_ID:2298858 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9008881 Coronary Artery Disease, Development of, in HIV ISO RGD:731046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease, development of, in HIV PMID:11500196|PMID:15466648|PMID:16352737|PMID:16596675|PMID:18940815 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:731046 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-2518A>G (human) PMID:11844145|REF_RGD_ID:11528536 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:731046 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-2518A>G (human) PMID:20414371|REF_RGD_ID:11528535 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9111 cutaneous leishmaniasis ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20102417 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9119 acute myeloid leukemia ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:17822317|REF_RGD_ID:11528537 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:25382729|REF_RGD_ID:11528532 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9279 hyperhomocysteinemia ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (rat) PMID:17977907|REF_RGD_ID:8549578 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:18388116|REF_RGD_ID:2301862 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:25899686|REF_RGD_ID:14995493 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9446 cholangitis treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:17102917|REF_RGD_ID:14995925 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9452 fatty liver disease ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:22983634|REF_RGD_ID:8548844 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9452 fatty liver disease ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29684222 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9477 pulmonary embolism ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA:increased expression:heart right ventricle (rat) PMID:16814320|REF_RGD_ID:11528528 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9538 multiple myeloma ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16918137 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9675 pulmonary emphysema disease_progression ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:sputum PMID:20966041|REF_RGD_ID:4891458 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19092169|REF_RGD_ID:2306983 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:11275 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreatic islet (mouse) PMID:11317664|REF_RGD_ID:8549575 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9970 obesity ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18469848|REF_RGD_ID:2307038 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9970 obesity ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 11903814 CCL2 C-C motif chemokine ligand 2 gene DOID:9970 obesity ISO RGD:731046 D RGD:9068941 20200609 RGD protein, mRNA:increased expression:plasma, fat PMID:17803693|REF_RGD_ID:2306993 11903814 Ccl2 chemokine (C-C motif) ligand 2 gene DOID:1577 limited scleroderma ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:12925209|REF_RGD_ID:8661733 11903821 FHOD1 formin homology 2 domain containing 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1315466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11903821 FHOD1 formin homology 2 domain containing 1 gene DOID:630 genetic disease ISO RGD:1315466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11903847 CD6 CD6 molecule gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1351600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11903847 CD6 CD6 molecule gene DOID:1059 intellectual disability ISO RGD:1351600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11903847 CD6 CD6 molecule gene DOID:2377 multiple sclerosis ISO RGD:1351600 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19525953|PMID:24076602 11903847 CD6 CD6 molecule gene DOID:630 genetic disease ISO RGD:1351600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11903870 KMT2C lysine methyltransferase 2C gene DOID:0060041 autism spectrum disorder ISO RGD:1347083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11903870 KMT2C lysine methyltransferase 2C gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1347083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:25741868 11903870 KMT2C lysine methyltransferase 2C gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11903870 KMT2C lysine methyltransferase 2C gene DOID:0080202 adenoid cystic carcinoma disease_progression ISO RGD:1347083 D RGD:9068941 20211224 RGD PMID:31483290|REF_RGD_ID:150429736 11903870 KMT2C lysine methyltransferase 2C gene DOID:0080471 developmental and epileptic encephalopathy 92 ISO RGD:1347083 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood, 2 PMID:25741868 11903870 KMT2C lysine methyltransferase 2C gene DOID:0080598 Kleefstra syndrome 2 ISO RGD:1347083 D RGD:7240710 20190315 OMIM 11903870 KMT2C lysine methyltransferase 2C gene DOID:0080598 Kleefstra syndrome 2 ISO RGD:1347083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 2 | ClinVar Annotator: match by term: Kleefstra syndrome due to a point mutation PMID:22726846|PMID:22832583|PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532|PMID:29069077|PMID:29276005|PMID:29926297|PMID:30352910|PMID:30981987|PMID:36672956 11903870 KMT2C lysine methyltransferase 2C gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1347083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:18348270|PMID:25606385|PMID:28492532 11903870 KMT2C lysine methyltransferase 2C gene DOID:10283 prostate cancer ISO RGD:1347083 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland (human) PMID:24200674|REF_RGD_ID:9587761 11903870 KMT2C lysine methyltransferase 2C gene DOID:10534 stomach cancer ISO RGD:1347083 D RGD:9068941 20211224 RGD DNA:SNPs, haplotypes: rs6943984, rs4725443 (human) PMID:23991983|REF_RGD_ID:150537042 11903870 KMT2C lysine methyltransferase 2C gene DOID:10534 stomach cancer ISO RGD:1347083 D RGD:9068941 20211224 RGD DNA:missense mutation:CDS:S3660L (human) PMID:24965397|REF_RGD_ID:150537043 11903870 KMT2C lysine methyltransferase 2C gene DOID:1059 intellectual disability ISO RGD:1347083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24033266|PMID:24728327|PMID:25326635|PMID:25741868|PMID:28492532 11903870 KMT2C lysine methyltransferase 2C gene DOID:10907 microcephaly ISO RGD:1347083 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11903870 KMT2C lysine methyltransferase 2C gene DOID:11054 urinary bladder cancer ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 11903870 KMT2C lysine methyltransferase 2C gene DOID:11372 megacolon ISO RGD:1347083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11903870 KMT2C lysine methyltransferase 2C gene DOID:12849 autistic disorder ISO RGD:1347083 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:25741868 11903870 KMT2C lysine methyltransferase 2C gene DOID:1324 lung cancer ISO RGD:1347083 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic PMID:25741868|PMID:28492532 11903870 KMT2C lysine methyltransferase 2C gene DOID:1749 squamous cell carcinoma severity ISO RGD:1347083 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:25303977|REF_RGD_ID:9588232 11903870 KMT2C lysine methyltransferase 2C gene DOID:2600 laryngeal carcinoma ISO RGD:1347083 D RGD:9068941 20220217 RGD mRNA:decreased expression:larynx PMID:25633166|REF_RGD_ID:151356763 11903870 KMT2C lysine methyltransferase 2C gene DOID:2671 transitional cell carcinoma ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 11903870 KMT2C lysine methyltransferase 2C gene DOID:2843 long QT syndrome ISO RGD:1347083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11903870 KMT2C lysine methyltransferase 2C gene DOID:299 adenocarcinoma ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22484628 11903870 KMT2C lysine methyltransferase 2C gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 11903870 KMT2C lysine methyltransferase 2C gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1347083 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:25151357|REF_RGD_ID:9588233 11903870 KMT2C lysine methyltransferase 2C gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1347083 D RGD:9068941 20220217 RGD PMID:33665490|REF_RGD_ID:150523771 11903870 KMT2C lysine methyltransferase 2C gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1347083 D RGD:9068941 20220217 RGD PMID:32867667|REF_RGD_ID:151356760 11903870 KMT2C lysine methyltransferase 2C gene DOID:3910 lung adenocarcinoma onset ISO RGD:1347083 D RGD:9068941 20220217 RGD PMID:30821106|REF_RGD_ID:151356761 11903870 KMT2C lysine methyltransferase 2C gene DOID:4927 Klatskin's tumor onset ISO RGD:1347083 D RGD:9068941 20210430 RGD DNA:mutations PMID:33387086|REF_RGD_ID:126848756 11903870 KMT2C lysine methyltransferase 2C gene DOID:4947 cholangiocarcinoma ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 11903870 KMT2C lysine methyltransferase 2C gene DOID:5409 lung small cell carcinoma ISO RGD:1347083 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 11903870 KMT2C lysine methyltransferase 2C gene DOID:5517 stomach carcinoma severity ISO RGD:1347083 D RGD:9068941 20200609 RGD protein:decreased expression:stomach (human) PMID:25222251|REF_RGD_ID:9588234 11903870 KMT2C lysine methyltransferase 2C gene DOID:630 genetic disease ISO RGD:1347083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24728327|PMID:25741868|PMID:28492532 11903870 KMT2C lysine methyltransferase 2C gene DOID:684 hepatocellular carcinoma ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22634756 11903870 KMT2C lysine methyltransferase 2C gene DOID:7148 rheumatoid arthritis treatment ISO RGD:1587205 D RGD:9068941 20220217 RGD PMID:33914205|REF_RGD_ID:151356764 11903870 KMT2C lysine methyltransferase 2C gene DOID:8541 Sezary's disease ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 11903870 KMT2C lysine methyltransferase 2C gene DOID:9000217 Stomach Neoplasms ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22484628 11903870 KMT2C lysine methyltransferase 2C gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11903870 KMT2C lysine methyltransferase 2C gene DOID:9003155 Parasitic Liver Diseases ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 11903870 KMT2C lysine methyltransferase 2C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11903870 KMT2C lysine methyltransferase 2C gene DOID:9008086 Developmental Disabilities ISO RGD:1347083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22832583|PMID:25741868|PMID:29926297|PMID:30352910|PMID:30981987 11903870 KMT2C lysine methyltransferase 2C gene DOID:9009213 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES ISO RGD:1347083 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities PMID:25741868 11903870 KMT2C lysine methyltransferase 2C gene DOID:9119 acute myeloid leukemia ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24794707 11903870 KMT2C lysine methyltransferase 2C gene DOID:9261 nasopharynx carcinoma ISO RGD:1347083 D RGD:9068941 20220217 RGD PMID:31646828|REF_RGD_ID:151356762 11903870 KMT2C lysine methyltransferase 2C gene DOID:9538 multiple myeloma ISO RGD:1347083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11903928 METTL13 methyltransferase 13, eEF1A lysine and N-terminal methyltransferase gene DOID:1540 parathyroid carcinoma ISO RGD:1604624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11903928 METTL13 methyltransferase 13, eEF1A lysine and N-terminal methyltransferase gene DOID:630 genetic disease ISO RGD:1604624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11903928 METTL13 methyltransferase 13, eEF1A lysine and N-terminal methyltransferase gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1604624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 11903928 METTL13 methyltransferase 13, eEF1A lysine and N-terminal methyltransferase gene DOID:9003159 Nonsyndromic Deafness, Modifier 1 ISO RGD:1604624 D RGD:7240710 20190315 OMIM 11903928 METTL13 methyltransferase 13, eEF1A lysine and N-terminal methyltransferase gene DOID:9003159 Nonsyndromic Deafness, Modifier 1 ISO RGD:1604624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DFNM1 PMID:29408807 11903928 METTL13 methyltransferase 13, eEF1A lysine and N-terminal methyltransferase gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1604624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 11903928 METTL13 methyltransferase 13, eEF1A lysine and N-terminal methyltransferase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11903981 PRDM12 PR/SET domain 12 gene DOID:0070153 hereditary sensory and autonomic neuropathy type 8 ISO RGD:1351660 D RGD:7240710 20180130 OMIM 11903981 PRDM12 PR/SET domain 12 gene DOID:0070153 hereditary sensory and autonomic neuropathy type 8 ISO RGD:1351660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HSAN VIII | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type VIII PMID:17576681|PMID:25741868|PMID:25891934|PMID:26005867|PMID:28492532|PMID:32409124|PMID:32828702|PMID:33884296|PMID:9536098 11903981 PRDM12 PR/SET domain 12 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1351660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11903981 PRDM12 PR/SET domain 12 gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1351660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 11903981 PRDM12 PR/SET domain 12 gene DOID:630 genetic disease ISO RGD:1351660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 11903981 PRDM12 PR/SET domain 12 gene DOID:9008482 Congenital Pain Insensitivity ISO RGD:1351660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26005867 11903981 PRDM12 PR/SET domain 12 gene DOID:9273 citrullinemia ISO RGD:1351660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Citrullinemia PMID:28492532 11903991 TCF4 transcription factor 4 gene DOID:0060488 Pitt-Hopkins syndrome ISO RGD:732921 D RGD:7240710 20180130 OMIM 11903991 TCF4 transcription factor 4 gene DOID:0060488 Pitt-Hopkins syndrome ISO RGD:732921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins syndrome | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome PMID:12032737|PMID:12848929|PMID:16199547|PMID:16531728|PMID:17436254|PMID:17436255|PMID:17576681|PMID:18414213|PMID:18728071|PMID:18992165|PMID:19235238|PMID:19938247|PMID:21671391|PMID:22045651|PMID:22460224|PMID:22777675|PMID:22934316|PMID:23033978|PMID:23165966|PMID:23248353|PMID:24077912|PMID:24088041|PMID:24126932|PMID:25167861|PMID:25326635|PMID:25326637|PMID:25693842|PMID:25741868|PMID:26010163|PMID:26350204|PMID:26467025|PMID:26621827|PMID:26633545|PMID:26993267|PMID:28166811|PMID:28492532|PMID:28554332|PMID:28631899|PMID:28708303|PMID:28726809|PMID:28807867|PMID:29318938|PMID:29322350|PMID:29695756|PMID:32581362|PMID:32860008|PMID:33624935|PMID:9536098 11903991 TCF4 transcription factor 4 gene DOID:0060488 Pitt-Hopkins syndrome ISO RGD:732921 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins syndrome | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome PMID:12032737|PMID:12848929|PMID:16199547|PMID:16531728|PMID:17436254|PMID:17436255|PMID:17576681|PMID:18414213|PMID:18728071|PMID:18992165|PMID:19235238|PMID:19938247|PMID:21671391|PMID:22045651|PMID:22460224|PMID:22777675|PMID:22934316|PMID:23033978|PMID:23165966|PMID:23248353|PMID:24077912|PMID:24088041|PMID:24126932|PMID:25167861|PMID:25326635|PMID:25326637|PMID:25693842|PMID:25741868|PMID:26010163|PMID:26467025|PMID:26621827|PMID:26633545|PMID:26993267|PMID:27179618|PMID:28492532|PMID:28631899|PMID:28708303|PMID:28726809|PMID:28951451|PMID:29318938|PMID:29322350|PMID:29695756|PMID:32581362|PMID:32860008|PMID:33624935|PMID:9536098 11903991 TCF4 transcription factor 4 gene DOID:0060488 Pitt-Hopkins syndrome ISO RGD:732921 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins syndrome | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome PMID:12032737|PMID:12848929|PMID:16199547|PMID:16531728|PMID:17436254|PMID:17436255|PMID:17576681|PMID:18414213|PMID:18728071|PMID:18992165|PMID:19235238|PMID:19938247|PMID:21671391|PMID:22045651|PMID:22460224|PMID:22777675|PMID:22934316|PMID:23033978|PMID:23165966|PMID:23248353|PMID:24077912|PMID:24088041|PMID:24126932|PMID:25167861|PMID:25326635|PMID:25326637|PMID:25693842|PMID:25741868|PMID:26010163|PMID:26467025|PMID:26621827|PMID:26633545|PMID:26993267|PMID:27179618|PMID:28492532|PMID:28631899|PMID:28708303|PMID:28726809|PMID:28951451|PMID:29318938|PMID:29322350|PMID:29695756|PMID:32056211|PMID:32581362|PMID:32860008|PMID:33624935|PMID:9536098 11903991 TCF4 transcription factor 4 gene DOID:0060488 Pitt-Hopkins syndrome ISO RGD:732921 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins syndrome | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome PMID:12032737|PMID:12848929|PMID:16199547|PMID:16531728|PMID:17436254|PMID:17436255|PMID:17576681|PMID:18414213|PMID:18728071|PMID:18992165|PMID:19235238|PMID:19938247|PMID:21671391|PMID:22045651|PMID:22460224|PMID:22678594|PMID:22777675|PMID:22934316|PMID:23020937|PMID:23033978|PMID:23165966|PMID:23248353|PMID:24077912|PMID:24088041|PMID:24126932|PMID:25167861|PMID:25326635|PMID:25326637|PMID:25356899|PMID:25693842|PMID:25741868|PMID:25780760|PMID:26010163|PMID:26350204|PMID:26467025|PMID:26621827|PMID:26633545|PMID:26993267|PMID:27179618|PMID:28492532|PMID:28631899|PMID:28708303|PMID:28726809|PMID:28951451|PMID:29158550|PMID:29318938|PMID:29322350|PMID:29604340|PMID:29655203|PMID:29695756|PMID:31428121|PMID:31785789|PMID:31981491|PMID:32056211|PMID:32581362|PMID:32860008|PMID:33624935|PMID:33767182|PMID:34128147|PMID:34837432|PMID:9536098 11903991 TCF4 transcription factor 4 gene DOID:0110241 cataract 41 ISO RGD:732921 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cataract 41 PMID:25741868 11903991 TCF4 transcription factor 4 gene DOID:10485 esophageal atresia ISO RGD:732921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia PMID:28492532 11903991 TCF4 transcription factor 4 gene DOID:1059 intellectual disability ISO RGD:732921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Severe intellectual deficiency PMID:12032737|PMID:16531728|PMID:17436254|PMID:17436255|PMID:18728071|PMID:19235238|PMID:22045651|PMID:22460224|PMID:22777675|PMID:25167861|PMID:25741868|PMID:26621827|PMID:26993267|PMID:28492532|PMID:29318938|PMID:33624935 11903991 TCF4 transcription factor 4 gene DOID:10907 microcephaly ISO RGD:732921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:18728071|PMID:21671391|PMID:22045651|PMID:22460224|PMID:25741868|PMID:28492532|PMID:28708303|PMID:29655203|PMID:29695756|PMID:32581362 11903991 TCF4 transcription factor 4 gene DOID:114 heart disease ISO RGD:732921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 11903991 TCF4 transcription factor 4 gene DOID:1826 epilepsy ISO RGD:732921 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure 11903991 TCF4 transcription factor 4 gene DOID:2303 stereotypic movement disorder ISO RGD:732921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stereotypic movement disorder PMID:25741868 11903991 TCF4 transcription factor 4 gene DOID:3883 Lynch syndrome ISO RGD:732921 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 11903991 TCF4 transcription factor 4 gene DOID:5419 schizophrenia ISO RGD:735359 D RGD:9068941 20220825 MouseDO OMIM:181500 11903991 TCF4 transcription factor 4 gene DOID:574 peripheral nervous system disease ISO RGD:732921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21228734 11903991 TCF4 transcription factor 4 gene DOID:630 genetic disease ISO RGD:732921 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12032737|PMID:12848929|PMID:16531728|PMID:17436254|PMID:17436255|PMID:18414213|PMID:18728071|PMID:19235238|PMID:19938247|PMID:21671391|PMID:22040220|PMID:22045651|PMID:22460224|PMID:22777675|PMID:23033978|PMID:24126932|PMID:25167861|PMID:25741868|PMID:26010163|PMID:26467025|PMID:26621827|PMID:27179618|PMID:28492532|PMID:28708303|PMID:28726809|PMID:28951451|PMID:29318938|PMID:29604340|PMID:29655203|PMID:29695756|PMID:31428121|PMID:32581362|PMID:33624935 11903991 TCF4 transcription factor 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11903991 TCF4 transcription factor 4 gene DOID:9003132 Sialorrhea ISO RGD:732921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Drooling PMID:25741868 11903991 TCF4 transcription factor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 11903991 TCF4 transcription factor 4 gene DOID:9005539 Familial Prostate Cancer ISO RGD:732921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11903991 TCF4 transcription factor 4 gene DOID:9007 sudden infant death syndrome ISO RGD:732921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868 11903991 TCF4 transcription factor 4 gene DOID:9007188 Liver Neoplasms ISO RGD:732921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11903991 TCF4 transcription factor 4 gene DOID:9008049 Corneal Dystrophy, Fuchs Endothelial, 3 ISO RGD:732921 D RGD:7240710 20180130 OMIM 11903991 TCF4 transcription factor 4 gene DOID:9008049 Corneal Dystrophy, Fuchs Endothelial, 3 ISO RGD:732921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 3 PMID:18414213|PMID:18728071|PMID:25741868|PMID:26467025|PMID:28492532 11903991 TCF4 transcription factor 4 gene DOID:9008086 Developmental Disabilities ISO RGD:732921 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22678594|PMID:25741868|PMID:25741890|PMID:34128147|PMID:34837432 11903991 TCF4 transcription factor 4 gene DOID:9008582 Developmental Disease ISO RGD:732921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11903991 TCF4 transcription factor 4 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17436254 11904049 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1332253 D RGD:9068941 20200609 RGD PMID:26060116|REF_RGD_ID:11532770 11904049 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1606199 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11904049 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1606199 D RGD:7240710 20180130 OMIM 11904049 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1606199 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:22958903|PMID:25558065|PMID:25741868|PMID:26436962|PMID:26467025|PMID:27066570|PMID:28492532|PMID:31130284|PMID:32570172 11904049 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) gene DOID:0112382 muscular dystrophy-dystroglycanopathy type C8 ISO RGD:1606199 D RGD:7240710 20190315 OMIM 11904049 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) gene DOID:0112382 muscular dystrophy-dystroglycanopathy type C8 ISO RGD:1606199 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 PMID:25741868|PMID:27066570|PMID:28492532|PMID:32570172 11904049 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) gene DOID:630 genetic disease ISO RGD:1606199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11904049 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) gene DOID:9008539 Perinatal Death ISO RGD:1606199 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal death PMID:22958903|PMID:25558065|PMID:25741868|PMID:28492532|PMID:31130284 11904061 BNIPL BCL2 interacting protein like gene DOID:0111940 immunodeficiency 42 ISO RGD:1319839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11904061 BNIPL BCL2 interacting protein like gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1319839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11904061 BNIPL BCL2 interacting protein like gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1319839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11904061 BNIPL BCL2 interacting protein like gene DOID:1540 parathyroid carcinoma ISO RGD:1319839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11904061 BNIPL BCL2 interacting protein like gene DOID:5812 MHC class II deficiency ISO RGD:1319839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11904061 BNIPL BCL2 interacting protein like gene DOID:630 genetic disease ISO RGD:1319839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11904061 BNIPL BCL2 interacting protein like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11904079 RAB12 RAB12, member RAS oncogene family gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1346694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11904079 RAB12 RAB12, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1346694 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11904079 RAB12 RAB12, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1346694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:29057844 11904079 RAB12 RAB12, member RAS oncogene family gene DOID:9007102 Myocardial Ischemia ISO RGD:1346694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11904090 LOC100971599 vomeronasal type-1 receptor 4 gene DOID:630 genetic disease ISO RGD:1347041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11904093 TRMT13 tRNA methyltransferase 13 homolog gene DOID:630 genetic disease ISO RGD:1604003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11904093 TRMT13 tRNA methyltransferase 13 homolog gene DOID:9269 maple syrup urine disease ISO RGD:1604003 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 11904112 PPP2R5A protein phosphatase 2 regulatory subunit B'alpha gene DOID:1540 parathyroid carcinoma ISO RGD:1317550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11904112 PPP2R5A protein phosphatase 2 regulatory subunit B'alpha gene DOID:630 genetic disease ISO RGD:1317550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11904112 PPP2R5A protein phosphatase 2 regulatory subunit B'alpha gene DOID:9002884 Emphysema ISO RGD:1317550 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22223484 11904112 PPP2R5A protein phosphatase 2 regulatory subunit B'alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11904129 PLA2G6 phospholipase A2 group VI gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:732454 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11904129 PLA2G6 phospholipase A2 group VI gene DOID:0050952 spastic ataxia ISO RGD:732454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11904129 PLA2G6 phospholipase A2 group VI gene DOID:0060900 Parkinson's disease 14 ISO RGD:732454 D RGD:7240710 20180130 OMIM 11904129 PLA2G6 phospholipase A2 group VI gene DOID:0060900 Parkinson's disease 14 ISO RGD:732454 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive Parkinson disease 14 PMID:16783378|PMID:18570303|PMID:18799783|PMID:18981035|PMID:20186954|PMID:20619503|PMID:20669327|PMID:20886109|PMID:20938027|PMID:21368765|PMID:21700586|PMID:21812034|PMID:22213678|PMID:23182313|PMID:24088041|PMID:25660576|PMID:25741868|PMID:26001724|PMID:26196026|PMID:26467025|PMID:26633545|PMID:26668131|PMID:26755131|PMID:27268037|PMID:27942883|PMID:28492532|PMID:29395073|PMID:29859652|PMID:29913018|PMID:30065071|PMID:30232368|PMID:30302010|PMID:32581362|PMID:32707456|PMID:32771225|PMID:32860008|PMID:33279242|PMID:34622992 11904129 PLA2G6 phospholipase A2 group VI gene DOID:0070338 cerebellar hypoplasia ISO RGD:732454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:16783378|PMID:32581362 11904129 PLA2G6 phospholipase A2 group VI gene DOID:0090036 myoclonic dystonia 26 ISO RGD:732454 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11904129 PLA2G6 phospholipase A2 group VI gene DOID:0090056 dystonia 12 ISO RGD:732454 D RGD:9068941 20200609 RGD DNA:missense mutation:p.R632W (human) PMID:19087156|REF_RGD_ID:6482737 11904129 PLA2G6 phospholipase A2 group VI gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:732454 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Iron accumulation in brain | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:16783378|PMID:17033970|PMID:18359254|PMID:18414213|PMID:18443314|PMID:18570303|PMID:18799783|PMID:18981035|PMID:19087156|PMID:19138334|PMID:19893029|PMID:20301718|PMID:20584031|PMID:20619503|PMID:20669327|PMID:20886109|PMID:20947703|PMID:22213678|PMID:22442204|PMID:22934738|PMID:23685560|PMID:24033266|PMID:24108619|PMID:24130795|PMID:24252552|PMID:24628589|PMID:24745848|PMID:24870368|PMID:25164370|PMID:25326635|PMID:25326637|PMID:25558065|PMID:25741868|PMID:26196026|PMID:26467025|PMID:26633542|PMID:26668131|PMID:2668131|PMID:26829737|PMID:27081553|PMID:27127721|PMID:27146152|PMID:27196560|PMID:27268037|PMID:27378808|PMID:27516098|PMID:28492532|PMID:28714225|PMID:28716262|PMID:29108286|PMID:29395073|PMID:29454663|PMID:29472584|PMID:29859652|PMID:29915382|PMID:30120687|PMID:30340910|PMID:30619057|PMID:31496990|PMID:31516627|PMID:32183746|PMID:32357911|PMID:32707456|PMID:32771225|PMID:32860008|PMID:33050356|PMID:33550528|PMID:34168672|PMID:35122944|PMID:35247231 11904129 PLA2G6 phospholipase A2 group VI gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:732454 D RGD:7240710 20180130 OMIM 11904129 PLA2G6 phospholipase A2 group VI gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:732454 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy | ClinVar Annotator: match by term: PLA2G6-associated neurodegeneration PMID:16199547|PMID:16783378|PMID:17033970|PMID:17576681|PMID:18359254|PMID:18414213|PMID:18443314|PMID:18570303|PMID:18799783|PMID:18981035|PMID:19087156|PMID:19138334|PMID:19893029|PMID:20186954|PMID:20226704|PMID:20301718|PMID:20584031|PMID:20619503|PMID:20669327|PMID:20886109|PMID:20938027|PMID:20947703|PMID:21368765|PMID:21520282|PMID:21700586|PMID:21812034|PMID:22213678|PMID:22442204|PMID:22934738|PMID:23182313|PMID:23685560|PMID:24033266|PMID:24088041|PMID:24108619|PMID:24130795|PMID:24252552|PMID:24628589|PMID:24745848|PMID:24870368|PMID:25164370|PMID:25174650|PMID:25326635|PMID:25326637|PMID:25348461|PMID:25601130|PMID:25634434|PMID:25640679|PMID:25660576|PMID:25741868|PMID:26001724|PMID:26196026|PMID:26467025|PMID:26539891|PMID:26633542|PMID:26633545|PMID:26668131|PMID:2668131|PMID:26755131|PMID:26829737|PMID:27081553|PMID:27127721|PMID:27146152|PMID:27196560|PMID:27268037|PMID:27294386|PMID:27378808|PMID:27395053|PMID:27516098|PMID:27709683|PMID:27882168|PMID:27942883|PMID:28150298|PMID:28295203|PMID:28492532|PMID:28549837|PMID:28714225|PMID:28716262|PMID:28821231|PMID:29108286|PMID:29124790|PMID:29159939|PMID:29395073|PMID:29454663|PMID:29472584|PMID:29859652|PMID:29913018|PMID:29915382|PMID:30042723|PMID:30065071|PMID:30120687|PMID:30169597|PMID:30232368|PMID:30302010|PMID:30340910|PMID:30537300|PMID:30619057|PMID:30772976|PMID:31493945|PMID:31496990|PMID:31506141|PMID:31516627|PMID:31548400|PMID:31689548|PMID:32183746|PMID:32357911|PMID:32404165|PMID:32707456|PMID:32771225|PMID:32860008|PMID:33098801|PMID:33279242|PMID:33361639|PMID:33547378|PMID:33550528|PMID:34168672|PMID:34272103|PMID:34622992|PMID:35122944|PMID:35247231|PMID:6783378|PMID:9536098 11904129 PLA2G6 phospholipase A2 group VI gene DOID:0110736 neurodegeneration with brain iron accumulation 2B ISO RGD:732454 D RGD:7240710 20180130 OMIM 11904129 PLA2G6 phospholipase A2 group VI gene DOID:0110736 neurodegeneration with brain iron accumulation 2B ISO RGD:732454 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 2B PMID:16783378|PMID:17033970|PMID:18359254|PMID:18414213|PMID:18443314|PMID:18570303|PMID:18799783|PMID:18981035|PMID:19138334|PMID:20301718|PMID:20584031|PMID:20619503|PMID:20669327|PMID:20886109|PMID:22213678|PMID:22934738|PMID:24745848|PMID:24870368|PMID:25164370|PMID:25326635|PMID:25741868|PMID:26196026|PMID:26668131|PMID:2668131|PMID:26755131|PMID:27146152|PMID:27196560|PMID:27268037|PMID:27378808|PMID:27516098|PMID:28492532|PMID:28716262|PMID:29472584|PMID:29915382|PMID:30340910|PMID:30619057|PMID:30772976|PMID:31516627|PMID:31548400|PMID:32581362|PMID:32707456|PMID:32771225|PMID:32860008|PMID:34168672|PMID:34622992|PMID:35122944 11904129 PLA2G6 phospholipase A2 group VI gene DOID:10247 pleurisy ISO RGD:628867 D RGD:9068941 20200609 RGD PMID:15003994|REF_RGD_ID:6482741 11904129 PLA2G6 phospholipase A2 group VI gene DOID:11723 Duchenne muscular dystrophy ISO RGD:732454 D RGD:9068941 20200609 RGD PMID:22934738|REF_RGD_ID:12910703 11904129 PLA2G6 phospholipase A2 group VI gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732454 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11904129 PLA2G6 phospholipase A2 group VI gene DOID:12849 autistic disorder ISO RGD:732454 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Autism PMID:16783378|PMID:18359254|PMID:18414213|PMID:18799783|PMID:20619503|PMID:20886109|PMID:24745848|PMID:25326635|PMID:25741868|PMID:27378808|PMID:28492532|PMID:28716262|PMID:30340910 11904129 PLA2G6 phospholipase A2 group VI gene DOID:1289 neurodegenerative disease ISO RGD:732455 D RGD:9068941 20200609 RGD PMID:24919816|REF_RGD_ID:12910702 11904129 PLA2G6 phospholipase A2 group VI gene DOID:14330 Parkinson's disease no_association ISO RGD:732454 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P806R (c.2417C>G) (human) PMID:21368765|REF_RGD_ID:6482734 11904129 PLA2G6 phospholipase A2 group VI gene DOID:14330 Parkinson's disease onset ISO RGD:732454 D RGD:9068941 20200609 RGD DNA:missense muations, nonsense mutation: :p.F72L, p.Q452X, p.R635Q (human) PMID:20938027|REF_RGD_ID:6482733 11904129 PLA2G6 phospholipase A2 group VI gene DOID:2367 neuroaxonal dystrophy ISO RGD:732454 D RGD:9068941 20200609 RGD DNA:deletion:cds:p.V691del (human) PMID:17033970|REF_RGD_ID:6482740 11904129 PLA2G6 phospholipase A2 group VI gene DOID:2367 neuroaxonal dystrophy ISO RGD:732454 D RGD:9068941 20200609 RGD DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple PMID:19138334|REF_RGD_ID:6482736 11904129 PLA2G6 phospholipase A2 group VI gene DOID:2367 neuroaxonal dystrophy ISO RGD:732455 D RGD:9068941 20200609 RGD PMID:18305254|REF_RGD_ID:6482739 11904129 PLA2G6 phospholipase A2 group VI gene DOID:2367 neuroaxonal dystrophy ISO RGD:732455 D RGD:9068941 20200609 RGD DNA:insertion:intron (mouse) PMID:22442204|REF_RGD_ID:6482732 11904129 PLA2G6 phospholipase A2 group VI gene DOID:2367 neuroaxonal dystrophy ISO RGD:732455 D RGD:9068941 20200609 RGD DNA:point mutation:cds PMID:19893029|REF_RGD_ID:6482735 11904129 PLA2G6 phospholipase A2 group VI gene DOID:630 genetic disease ISO RGD:732454 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16783378|PMID:17576681|PMID:18359254|PMID:18414213|PMID:18443314|PMID:18570303|PMID:18799783|PMID:19138334|PMID:19893029|PMID:20301718|PMID:20619503|PMID:20886109|PMID:20947703|PMID:22213678|PMID:22442204|PMID:22934738|PMID:24745848|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26633542|PMID:26668131|PMID:2668131|PMID:27127721|PMID:27378808|PMID:28295203|PMID:28492532|PMID:28716262|PMID:29395073|PMID:29454663|PMID:29472584|PMID:29554876|PMID:29859652|PMID:29915382|PMID:30042723|PMID:30120687|PMID:30169597|PMID:30340910|PMID:30619057|PMID:31493945|PMID:33547378|PMID:34168672|PMID:34272103|PMID:35247231|PMID:9536098 11904129 PLA2G6 phospholipase A2 group VI gene DOID:9000039 Spinal Cord Injuries ISO RGD:732455 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:21868473|REF_RGD_ID:6482718 11904129 PLA2G6 phospholipase A2 group VI gene DOID:9002498 Wallerian Degeneration ISO RGD:732455 D RGD:9068941 20200609 RGD PMID:18718965|REF_RGD_ID:6482738 11904129 PLA2G6 phospholipase A2 group VI gene DOID:9002969 Nevus ISO RGD:732454 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578365 11904129 PLA2G6 phospholipase A2 group VI gene DOID:9004320 Karak Syndrome ISO RGD:732454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Karak syndrome PMID:16783378|PMID:19087156|PMID:20619503|PMID:20886109|PMID:25741868|PMID:27127721|PMID:27196560|PMID:29108286|PMID:30619057|PMID:31496990|PMID:32183746|PMID:33550528 11904129 PLA2G6 phospholipase A2 group VI gene DOID:9006534 Nervous System Malformations ISO RGD:732454 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16783378|PMID:18359254|PMID:18414213|PMID:18799783|PMID:20619503|PMID:20886109|PMID:24745848|PMID:25326635|PMID:25741868|PMID:27378808|PMID:28492532|PMID:28716262|PMID:30340910 11904129 PLA2G6 phospholipase A2 group VI gene DOID:9006646 Metabolic Syndrome ISO RGD:628867 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:21172452|REF_RGD_ID:6482748 11904173 TFEB transcription factor EB gene DOID:0050444 infantile Refsum disease ISO RGD:1319997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11904173 TFEB transcription factor EB gene DOID:630 genetic disease ISO RGD:1319997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11904173 TFEB transcription factor EB gene DOID:9002955 Nerve Degeneration ISO RGD:1319997 D RGD:9068941 20220310 CTD CTD Direct Evidence: therapeutic PMID:34562559 11904173 TFEB transcription factor EB gene DOID:905 Zellweger syndrome ISO RGD:1319997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11904210 SPATA18 spermatogenesis associated 18 gene DOID:10283 prostate cancer ISO RGD:1606969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11904210 SPATA18 spermatogenesis associated 18 gene DOID:630 genetic disease ISO RGD:1606969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11904210 SPATA18 spermatogenesis associated 18 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11904210 SPATA18 spermatogenesis associated 18 gene DOID:9008939 Breast Neoplasms ISO RGD:1606969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 11904240 ATOH7 atonal bHLH transcription factor 7 gene DOID:630 genetic disease ISO RGD:1312698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11904240 ATOH7 atonal bHLH transcription factor 7 gene DOID:9001923 Foveal Hypoplasia ISO RGD:1312698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Foveal hypoplasia PMID:28492532|PMID:31696227 11904240 ATOH7 atonal bHLH transcription factor 7 gene DOID:9005204 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive ISO RGD:1312698 D RGD:7240710 20180130 OMIM 11904240 ATOH7 atonal bHLH transcription factor 7 gene DOID:9005204 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive ISO RGD:1312698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous, autosomal recessive PMID:11527934|PMID:21441919|PMID:21474777|PMID:22068589|PMID:22645276|PMID:28492532|PMID:9677055 11904246 IQCE IQ motif containing E gene DOID:0050581 brachydactyly ISO RGD:1350439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:25741868|PMID:31549751 11904246 IQCE IQ motif containing E gene DOID:0111957 immunodeficiency 11A ISO RGD:1350439 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency PMID:28492532 11904246 IQCE IQ motif containing E gene DOID:630 genetic disease ISO RGD:1350439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11904246 IQCE IQ motif containing E gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1350439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 PMID:25741868|PMID:31549751 11904246 IQCE IQ motif containing E gene DOID:9009200 Postaxial Polydactyly, Type A7 ISO RGD:1350439 D RGD:7240710 20190315 OMIM 11904246 IQCE IQ motif containing E gene DOID:9009200 Postaxial Polydactyly, Type A7 ISO RGD:1350439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type a7 PMID:25741868|PMID:28488682|PMID:31549751 11904272 PANK1 pantothenate kinase 1 gene DOID:630 genetic disease ISO RGD:1312259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11904311 SYTL2 synaptotagmin like 2 gene DOID:0080600 COVID-19 ISO RGD:1316959 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11904311 SYTL2 synaptotagmin like 2 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1316959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 11904311 SYTL2 synaptotagmin like 2 gene DOID:1059 intellectual disability ISO RGD:1316959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11904311 SYTL2 synaptotagmin like 2 gene DOID:1558 angioedema ISO RGD:1316959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angioedema PMID:28327206 11904311 SYTL2 synaptotagmin like 2 gene DOID:630 genetic disease ISO RGD:1316959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11904362 NUCB2 nucleobindin 2 gene DOID:1059 intellectual disability ISO RGD:734220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11904362 NUCB2 nucleobindin 2 gene DOID:630 genetic disease ISO RGD:734220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11904362 NUCB2 nucleobindin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:734220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11904362 NUCB2 nucleobindin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:620888 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas: PMID:20032201|REF_RGD_ID:9831177 11904362 NUCB2 nucleobindin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:734220 D RGD:9068941 20200609 RGD mRNA:decreased expression:islet of Langerhans: PMID:22108805|REF_RGD_ID:9831161 11904362 NUCB2 nucleobindin 2 gene DOID:9970 obesity ISO RGD:620888 D RGD:9068941 20200609 RGD protein:increased expression:adipose tissue: PMID:22641054|REF_RGD_ID:9831187 11904409 HOXA1 homeobox A1 gene DOID:0050682 Athabaskan brainstem dysgenesis syndrome ISO RGD:737614 D RGD:7240710 20180130 OMIM 11904409 HOXA1 homeobox A1 gene DOID:0050682 Athabaskan brainstem dysgenesis syndrome ISO RGD:737614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome | ClinVar Annotator: match by term: Navajo brainstem syndrome PMID:16155570|PMID:18412118|PMID:25741868|PMID:28492532 11904409 HOXA1 homeobox A1 gene DOID:0060041 autism spectrum disorder no_association ISO RGD:737614 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:218A>G(human) PMID:14681917|REF_RGD_ID:11553826 11904409 HOXA1 homeobox A1 gene DOID:1059 intellectual disability ISO RGD:737614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11904409 HOXA1 homeobox A1 gene DOID:12849 autistic disorder ISO RGD:737614 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11091361 11904409 HOXA1 homeobox A1 gene DOID:12849 autistic disorder susceptibility ISO RGD:737614 D RGD:9068941 20200806 RGD DNA:missense mutation:cds:p.H73R (human) PMID:14960295|REF_RGD_ID:1358730 11904409 HOXA1 homeobox A1 gene DOID:1682 congenital heart disease ISO RGD:737614 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21940751 11904409 HOXA1 homeobox A1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:737614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11904409 HOXA1 homeobox A1 gene DOID:630 genetic disease ISO RGD:737614 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11904409 HOXA1 homeobox A1 gene DOID:9003270 Microtia-Anotia ISO RGD:13932952 D RGD:9068941 20210604 OMIA Microtia PMID:26035869 11904409 HOXA1 homeobox A1 gene DOID:9003920 Microtia, Hearing Impairment, and Cleft Palate ISO RGD:737614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate 11904409 HOXA1 homeobox A1 gene DOID:9006534 Nervous System Malformations ISO RGD:737614 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10529420 11904409 HOXA1 homeobox A1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:737614 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10529420 11904418 RSPRY1 ring finger and SPRY domain containing 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606482 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11904418 RSPRY1 ring finger and SPRY domain containing 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606482 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11904418 RSPRY1 ring finger and SPRY domain containing 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11904418 RSPRY1 ring finger and SPRY domain containing 1 gene DOID:630 genetic disease ISO RGD:1606482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11904418 RSPRY1 ring finger and SPRY domain containing 1 gene DOID:9007161 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type ISO RGD:1606482 D RGD:7240710 20180130 OMIM 11904418 RSPRY1 ring finger and SPRY domain containing 1 gene DOID:9007161 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type ISO RGD:1606482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type PMID:25741868|PMID:26365341 11904458 DEF8 differentially expressed in FDCP 8 homolog gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1603215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 11904458 DEF8 differentially expressed in FDCP 8 homolog gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1603215 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11904458 DEF8 differentially expressed in FDCP 8 homolog gene DOID:13636 Fanconi anemia ISO RGD:1603215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 11904458 DEF8 differentially expressed in FDCP 8 homolog gene DOID:630 genetic disease ISO RGD:1603215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11904482 SPATA21 spermatogenesis associated 21 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602628 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11904482 SPATA21 spermatogenesis associated 21 gene DOID:11612 polycystic ovary syndrome ISO RGD:1602628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11904482 SPATA21 spermatogenesis associated 21 gene DOID:630 genetic disease ISO RGD:1602628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11904482 SPATA21 spermatogenesis associated 21 gene DOID:9007188 Liver Neoplasms ISO RGD:1602628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11904506 RNF113A ring finger protein 113A gene DOID:0050437 Danon disease ISO RGD:1344435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 11904506 RNF113A ring finger protein 113A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11904506 RNF113A ring finger protein 113A gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1344435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 11904506 RNF113A ring finger protein 113A gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1344435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 11904506 RNF113A ring finger protein 113A gene DOID:0111868 nonphotosensitive trichothiodystrophy 5 ISO RGD:1344435 D RGD:7240710 20180130 OMIM 11904506 RNF113A ring finger protein 113A gene DOID:0111868 nonphotosensitive trichothiodystrophy 5 ISO RGD:1344435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 5, nonphotosensitive PMID:25612912|PMID:25741868|PMID:29144457|PMID:31793730|PMID:31880405 11904506 RNF113A ring finger protein 113A gene DOID:12849 autistic disorder ISO RGD:1344435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11904506 RNF113A ring finger protein 113A gene DOID:630 genetic disease ISO RGD:1344435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11904506 RNF113A ring finger protein 113A gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1344435 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 11904517 HTR3A 5-hydroxytryptamine receptor 3A gene DOID:1059 intellectual disability ISO RGD:731037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11904517 HTR3A 5-hydroxytryptamine receptor 3A gene DOID:12849 autistic disorder ISO RGD:731037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19184136 11904517 HTR3A 5-hydroxytryptamine receptor 3A gene DOID:630 genetic disease ISO RGD:731037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11904517 HTR3A 5-hydroxytryptamine receptor 3A gene DOID:670 amphetamine abuse ISO RGD:731037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19689456 11904517 HTR3A 5-hydroxytryptamine receptor 3A gene DOID:9001204 Dyspepsia ISO RGD:731037 D RGD:9068941 20200609 RGD DNA:SNP:promoter:c.-42C>T(human) PMID:22014438|REF_RGD_ID:6480658 11904517 HTR3A 5-hydroxytryptamine receptor 3A gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:731037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11904517 HTR3A 5-hydroxytryptamine receptor 3A gene DOID:9778 irritable bowel syndrome severity ISO RGD:731037 D RGD:9068941 20200609 RGD DNA:SNP:promoter:c.-42C>T(human) PMID:21420406|REF_RGD_ID:6480659 11904534 PELI2 pellino E3 ubiquitin protein ligase family member 2 gene DOID:630 genetic disease ISO RGD:1353013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11904547 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1601958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NAFLD1 | ClinVar Annotator: match by term: Susceptibility to Nonalcoholic Fatty Liver Disease PMID:18820647|PMID:21381068|PMID:24033266|PMID:24917523|PMID:25290313|PMID:26200108|PMID:27288299|PMID:28073161|PMID:28492532|PMID:29158695 11904547 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:1601958 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:26740948|REF_RGD_ID:13463463 11904547 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1601958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11904547 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:1059 intellectual disability ISO RGD:1601958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11904547 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1601958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19946271|PMID:26482880 11904547 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:1459 hypothyroidism treatment ISO RGD:1595843 D RGD:9068941 20200609 RGD PMID:19619606|REF_RGD_ID:14985223 11904547 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:3393 coronary artery disease ISO RGD:1601958 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus;DNA:SNP: :rs738409 (p.I148M) (human) PMID:31377187|REF_RGD_ID:14981594 11904547 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:5082 liver cirrhosis ISO RGD:1601958 D RGD:9068941 20200609 RGD associated with non-alcoholic fatty liver disease:DNA:SNP: :rs738409 (p.I148M) (human) PMID:20648474|REF_RGD_ID:14981584 11904547 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1601958 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNP: :rs738409 (p.I148M) (human) PMID:29674183|REF_RGD_ID:14981591 11904547 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:5082 liver cirrhosis severity ISO RGD:1601958 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus;DNA:SNP: :rs738409 (p.I148M) (human) PMID:31377187|REF_RGD_ID:14981594 11904547 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:630 genetic disease ISO RGD:1601958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11904547 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1601958 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNP: :rs738409 (p.I148M) (human) PMID:21319195|REF_RGD_ID:14981585 11904547 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:1601958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19946271 11904547 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1601958 D RGD:9068941 20200609 RGD DNA:SNP: :rs738409 (p.I148M) (human) PMID:31377187|REF_RGD_ID:14981594 11904547 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:9452 fatty liver disease ISO RGD:1601958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25678388 11904547 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:9452 fatty liver disease ISO RGD:1601958 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic;DNA:SNP: :rs738409 (p.I148M) (human) PMID:25284145|REF_RGD_ID:14981590 11904547 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:9452 fatty liver disease ISO RGD:1601958 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNP: :rs738409 (p.I148M) (human) PMID:21319195|REF_RGD_ID:14981585 11904547 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:9452 fatty liver disease ISO RGD:1601958 D RGD:9068941 20200609 RGD associated with Wilson disease;DNA:SNP: :rs738409 (p.I148M) (human) PMID:25678388|REF_RGD_ID:11055420 11904547 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:9452 fatty liver disease severity ISO RGD:1601958 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic;DNA:SNP: :rs738409 (p.I148M) (human) PMID:23564580|REF_RGD_ID:14981583 11904547 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:9970 obesity ISO RGD:1595843 D RGD:9068941 20200609 RGD PMID:11431482|REF_RGD_ID:14985224 11904568 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1344496 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 11904568 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1344496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11904568 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:0110266 cataract 9 multiple types ISO RGD:1344496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11904568 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:0110540 autosomal recessive nonsyndromic deafness 98 ISO RGD:1344496 D RGD:7240710 20180130 OMIM 11904568 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:0110540 autosomal recessive nonsyndromic deafness 98 ISO RGD:1344496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 98 PMID:22678063|PMID:24033266|PMID:25741868|PMID:25855803|PMID:26467025|PMID:27736875|PMID:28492532|PMID:29144512|PMID:30046887|PMID:34042254 11904568 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:0111662 ectodermal dysplasia 14 ISO RGD:1344496 D RGD:7240710 20190315 OMIM 11904568 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:0111662 ectodermal dysplasia 14 ISO RGD:1344496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | ClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type, with hypohidrosis | ClinVar Annotator: match by term: TSPEAR-related disorder of tooth and hair follicle morphogenesis PMID:17576681|PMID:22678063|PMID:24033266|PMID:25741868|PMID:25855803|PMID:26467025|PMID:27736875|PMID:28492532|PMID:29144512|PMID:30046887|PMID:32112661|PMID:34042254|PMID:35741818|PMID:9536098 11904568 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:12849 autistic disorder ISO RGD:1344496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11904568 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:2661 myoepithelioma ISO RGD:1344496 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11904568 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:3007 breast ductal carcinoma ISO RGD:1344496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 11904568 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:630 genetic disease ISO RGD:1344496 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22678063|PMID:24033266|PMID:25741868|PMID:25855803|PMID:26467025|PMID:26969326|PMID:27736875|PMID:28492532|PMID:29144512|PMID:30046887|PMID:32112661|PMID:34042254 11904568 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:891 progressive myoclonus epilepsy ISO RGD:1344496 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11904568 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:9003044 Selective Tooth Agenesis 10 ISO RGD:1344496 D RGD:7240710 20230104 OMIM 11904568 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:9003044 Selective Tooth Agenesis 10 ISO RGD:1344496 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 10 PMID:22678063|PMID:24033266|PMID:25741868|PMID:25855803|PMID:26467025|PMID:27736875|PMID:28492532|PMID:29144512|PMID:30046887|PMID:32112661|PMID:34042254 11904568 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11904568 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:9004538 Hearing Loss ISO RGD:1344496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 11904568 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:9263 homocystinuria ISO RGD:1344496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11904568 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:9562 primary ciliary dyskinesia ISO RGD:1344496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11904593 PTP4A3 protein tyrosine phosphatase 4A3 gene DOID:630 genetic disease ISO RGD:1318604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11904593 PTP4A3 protein tyrosine phosphatase 4A3 gene DOID:9002928 Colonic Neoplasms ISO RGD:1318604 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23555575 11904616 TRMT2B tRNA methyltransferase 2 homolog B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11904616 TRMT2B tRNA methyltransferase 2 homolog B gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1350620 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 11904616 TRMT2B tRNA methyltransferase 2 homolog B gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1350620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 11904616 TRMT2B tRNA methyltransferase 2 homolog B gene DOID:12849 autistic disorder ISO RGD:1350620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11904616 TRMT2B tRNA methyltransferase 2 homolog B gene DOID:630 genetic disease ISO RGD:1350620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11904616 TRMT2B tRNA methyltransferase 2 homolog B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11904616 TRMT2B tRNA methyltransferase 2 homolog B gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1350620 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 11904649 LRRC75A leucine rich repeat containing 75A gene DOID:630 genetic disease ISO RGD:1604449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11904656 EVI5L ecotropic viral integration site 5 like gene DOID:0080490 mucolipidosis type IV ISO RGD:1347720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11904656 EVI5L ecotropic viral integration site 5 like gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1347720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 11904656 EVI5L ecotropic viral integration site 5 like gene DOID:630 genetic disease ISO RGD:1347720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11904680 FJX1 four-jointed box kinase 1 gene DOID:1059 intellectual disability ISO RGD:1314537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11904680 FJX1 four-jointed box kinase 1 gene DOID:630 genetic disease ISO RGD:1314537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11904680 FJX1 four-jointed box kinase 1 gene DOID:9007502 Brain Neoplasms ISO RGD:1314537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 11904691 MYNN myoneurin gene DOID:0060645 chronic recurrent multifocal osteomyelitis ISO RGD:1317346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic osteomyelitis 11904691 MYNN myoneurin gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1317346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 11904691 MYNN myoneurin gene DOID:1062 Fanconi syndrome ISO RGD:1317346 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 11904691 MYNN myoneurin gene DOID:630 genetic disease ISO RGD:1317346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11904715 RECK reversion inducing cysteine rich protein with kazal motifs gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1318851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11904715 RECK reversion inducing cysteine rich protein with kazal motifs gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1318851 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11904715 RECK reversion inducing cysteine rich protein with kazal motifs gene DOID:0080942 anauxetic dysplasia ISO RGD:1318851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11904715 RECK reversion inducing cysteine rich protein with kazal motifs gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1318851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11904715 RECK reversion inducing cysteine rich protein with kazal motifs gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1318851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11904715 RECK reversion inducing cysteine rich protein with kazal motifs gene DOID:3068 glioblastoma ISO RGD:1318851 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20127710 11904715 RECK reversion inducing cysteine rich protein with kazal motifs gene DOID:3908 lung non-small cell carcinoma ISO RGD:1318851 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17233834 11904715 RECK reversion inducing cysteine rich protein with kazal motifs gene DOID:630 genetic disease ISO RGD:1318851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11904715 RECK reversion inducing cysteine rich protein with kazal motifs gene DOID:9000965 Neoplasm Metastasis ISO RGD:1318851 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17233834 11904715 RECK reversion inducing cysteine rich protein with kazal motifs gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318851 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11904715 RECK reversion inducing cysteine rich protein with kazal motifs gene DOID:9002928 Colonic Neoplasms ISO RGD:1318851 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17443689 11904715 RECK reversion inducing cysteine rich protein with kazal motifs gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1318851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11904715 RECK reversion inducing cysteine rich protein with kazal motifs gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1318851 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20127710 11904715 RECK reversion inducing cysteine rich protein with kazal motifs gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11904715 RECK reversion inducing cysteine rich protein with kazal motifs gene DOID:9870 galactosemia ISO RGD:1318851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11904741 RAB27B RAB27B, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:732208 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11904741 RAB27B RAB27B, member RAS oncogene family gene DOID:11054 urinary bladder cancer ISO RGD:732208 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34291859 11904741 RAB27B RAB27B, member RAS oncogene family gene DOID:2223 platelet storage pool deficiency ISO RGD:1553220 D RGD:9068941 20220825 MouseDO OMIM:185050 11904741 RAB27B RAB27B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:732208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11904741 RAB27B RAB27B, member RAS oncogene family gene DOID:9000918 Disease Progression ISO RGD:732208 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34291859 11904741 RAB27B RAB27B, member RAS oncogene family gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732208 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34291859 11904761 PRR13 proline rich 13 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1604010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21157449 11904761 PRR13 proline rich 13 gene DOID:630 genetic disease ISO RGD:1604010 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11904761 PRR13 proline rich 13 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11904761 PRR13 proline rich 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11904822 LOC100967439 beta-defensin 123 gene DOID:630 genetic disease ISO RGD:1351372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11904828 UCHL5 ubiquitin C-terminal hydrolase L5 gene DOID:1540 parathyroid carcinoma ISO RGD:1313432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11904828 UCHL5 ubiquitin C-terminal hydrolase L5 gene DOID:630 genetic disease ISO RGD:1313432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11904828 UCHL5 ubiquitin C-terminal hydrolase L5 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:1305414 D RGD:9068941 20200609 RGD protein:decreased expression:liver, cytosolic proteasome complex PMID:19609968|REF_RGD_ID:9480236 11904828 UCHL5 ubiquitin C-terminal hydrolase L5 gene DOID:9001390 Testis Reperfusion Injury ISO RGD:1305414 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:testis PMID:24189580|REF_RGD_ID:9588240 11904828 UCHL5 ubiquitin C-terminal hydrolase L5 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1305414 D RGD:9068941 20200609 RGD PMID:23500140|REF_RGD_ID:9588239 11904828 UCHL5 ubiquitin C-terminal hydrolase L5 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1313432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:28774260 11904828 UCHL5 ubiquitin C-terminal hydrolase L5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11904858 DNAJB9 DnaJ heat shock protein family (Hsp40) member B9 gene DOID:13580 cholestasis ISO RGD:737476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 11904858 DNAJB9 DnaJ heat shock protein family (Hsp40) member B9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:737476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11904858 DNAJB9 DnaJ heat shock protein family (Hsp40) member B9 gene DOID:630 genetic disease ISO RGD:737476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11904858 DNAJB9 DnaJ heat shock protein family (Hsp40) member B9 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 11904865 MYO1B myosin IB gene DOID:630 genetic disease ISO RGD:735320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11904865 MYO1B myosin IB gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11904865 MYO1B myosin IB gene DOID:9004657 Weight Gain ISO RGD:735320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11904865 MYO1B myosin IB gene DOID:9005369 Hepatomegaly ISO RGD:735320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 11904865 MYO1B myosin IB gene DOID:9256 colorectal cancer ISO RGD:735320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 11904916 CSNK1G1 casein kinase 1 gamma 1 gene DOID:0110935 nemaline myopathy 6 ISO RGD:733469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11904916 CSNK1G1 casein kinase 1 gamma 1 gene DOID:2717 Bloom syndrome ISO RGD:733469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11904916 CSNK1G1 casein kinase 1 gamma 1 gene DOID:630 genetic disease ISO RGD:733469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11904916 CSNK1G1 casein kinase 1 gamma 1 gene DOID:9256 colorectal cancer ISO RGD:733469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11904950 ARHGEF10 Rho guanine nucleotide exchange factor 10 gene DOID:0060041 autism spectrum disorder ISO RGD:1623777 D RGD:9068941 20220825 MouseDO 11904950 ARHGEF10 Rho guanine nucleotide exchange factor 10 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1346816 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:24627108|PMID:25025039|PMID:25164601|PMID:25741868|PMID:26558264|PMID:28492532 11904950 ARHGEF10 Rho guanine nucleotide exchange factor 10 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1346816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:15024724|PMID:28116333|PMID:28492532 11904950 ARHGEF10 Rho guanine nucleotide exchange factor 10 gene DOID:423 myopathy ISO RGD:1346816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 11904950 ARHGEF10 Rho guanine nucleotide exchange factor 10 gene DOID:630 genetic disease ISO RGD:1346816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11904950 ARHGEF10 Rho guanine nucleotide exchange factor 10 gene DOID:7319 axonal neuropathy ISO RGD:1346816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral axonal neuropathy PMID:25741868 11904950 ARHGEF10 Rho guanine nucleotide exchange factor 10 gene DOID:9002402 Slowed Nerve Conduction Velocity, Autosomal Dominant ISO RGD:1346816 D RGD:7240710 20180130 OMIM 11904950 ARHGEF10 Rho guanine nucleotide exchange factor 10 gene DOID:9002402 Slowed Nerve Conduction Velocity, Autosomal Dominant ISO RGD:1346816 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant slowed nerve conduction velocity PMID:14508709|PMID:21719701|PMID:25025039|PMID:25164601|PMID:25741868|PMID:26558264|PMID:28492532|PMID:29653320|PMID:9678704 11904995 RPL7A ribosomal protein L7a gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11904995 RPL7A ribosomal protein L7a gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1316865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11904995 RPL7A ribosomal protein L7a gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11904995 RPL7A ribosomal protein L7a gene DOID:0081097 Rafiq syndrome ISO RGD:1316865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11904995 RPL7A ribosomal protein L7a gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1316865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11904995 RPL7A ribosomal protein L7a gene DOID:3652 Leigh disease ISO RGD:1316865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11905007 NAE1 NEDD8 activating enzyme E1 subunit 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:733941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11905007 NAE1 NEDD8 activating enzyme E1 subunit 1 gene DOID:0110255 cataract 5 multiple types ISO RGD:733941 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 11905007 NAE1 NEDD8 activating enzyme E1 subunit 1 gene DOID:10652 Alzheimer's disease ISO RGD:733941 D RGD:9068941 20200609 RGD PMID:14557245|REF_RGD_ID:2302388 11905007 NAE1 NEDD8 activating enzyme E1 subunit 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:619945 D RGD:9068941 20200609 RGD PMID:21386696|REF_RGD_ID:13801046 11905007 NAE1 NEDD8 activating enzyme E1 subunit 1 gene DOID:630 genetic disease ISO RGD:733941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905007 NAE1 NEDD8 activating enzyme E1 subunit 1 gene DOID:9005238 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA ISO RGD:733941 D RGD:7240710 20230505 OMIM 11905007 NAE1 NEDD8 activating enzyme E1 subunit 1 gene DOID:9005238 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA ISO RGD:733941 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia PMID:36608681 11905038 TBX5 T-box transcription factor 5 gene DOID:0050651 atrioventricular septal defect ISO RGD:1313887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect PMID:25741868 11905038 TBX5 T-box transcription factor 5 gene DOID:0060224 atrial fibrillation ISO RGD:1313887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11905038 TBX5 T-box transcription factor 5 gene DOID:0060468 Holt-Oram syndrome ISO RGD:1313887 D RGD:7240710 20180130 OMIM 11905038 TBX5 T-box transcription factor 5 gene DOID:0060468 Holt-Oram syndrome ISO RGD:1313887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holt-Oram syndrome PMID:10077612|PMID:10077762|PMID:10842287|PMID:11183182|PMID:11431700|PMID:11555635|PMID:12499378|PMID:12624158|PMID:12789647|PMID:12818525|PMID:14402857|PMID:15096952|PMID:15355425|PMID:15710732|PMID:16183809|PMID:16199547|PMID:16380715|PMID:16917909|PMID:17534187|PMID:18451335|PMID:18706711|PMID:19648116|PMID:20450920|PMID:20519243|PMID:2070544|PMID:21637475|PMID:21897873|PMID:22333898|PMID:24033266|PMID:24664498|PMID:25216260|PMID:25260786|PMID:25263169|PMID:25623069|PMID:25680289|PMID:25741868|PMID:25931334|PMID:26219450|PMID:26401820|PMID:26490186|PMID:26762269|PMID:26859351|PMID:26938784|PMID:28492532|PMID:28855715|PMID:29755943|PMID:30552424|PMID:31215120|PMID:32236096|PMID:34917776|PMID:8911604|PMID:8988164|PMID:8988165 11905038 TBX5 T-box transcription factor 5 gene DOID:0080334 aortic valve disease 2 ISO RGD:1313887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic valve disease 2 PMID:10077612|PMID:10077762|PMID:11183182|PMID:11431700|PMID:11555635|PMID:12499378|PMID:12789647|PMID:14402857|PMID:15096952|PMID:15355425|PMID:15710732|PMID:16183809|PMID:16199547|PMID:16332960|PMID:16380715|PMID:16917909|PMID:17534187|PMID:17576681|PMID:18451335|PMID:18706711|PMID:19648116|PMID:20450920|PMID:20519243|PMID:2070544|PMID:21637475|PMID:21897873|PMID:24033266|PMID:24664498|PMID:25216260|PMID:25260786|PMID:25263169|PMID:25500235|PMID:25623069|PMID:25640679|PMID:25680289|PMID:25741868|PMID:25931334|PMID:26219450|PMID:26401820|PMID:26490186|PMID:26762269|PMID:26859351|PMID:28492532|PMID:28855715|PMID:30538526|PMID:30552424|PMID:31215120|PMID:31983221|PMID:32236096|PMID:34917776|PMID:8911604|PMID:8988164|PMID:8988165|PMID:9536098 11905038 TBX5 T-box transcription factor 5 gene DOID:0110106 atrial heart septal defect 1 ISO RGD:1313887 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect 1 11905038 TBX5 T-box transcription factor 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:1313887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17534187|PMID:25741868|PMID:28492532 11905038 TBX5 T-box transcription factor 5 gene DOID:13620 patent foramen ovale ISO RGD:1313887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type PMID:25741868|PMID:29555671 11905038 TBX5 T-box transcription factor 5 gene DOID:1682 congenital heart disease ISO RGD:1313887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:10077612|PMID:10077762|PMID:12499378|PMID:12789647|PMID:16380715|PMID:20519243|PMID:25216260|PMID:25931334|PMID:28492532|PMID:34917776 11905038 TBX5 T-box transcription factor 5 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1313887 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868 11905038 TBX5 T-box transcription factor 5 gene DOID:5844 myocardial infarction treatment ISO RGD:1305702 D RGD:9068941 20200609 RGD PMID:23948075|REF_RGD_ID:7327215 11905038 TBX5 T-box transcription factor 5 gene DOID:630 genetic disease ISO RGD:1313887 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10077612|PMID:12789647|PMID:14402857|PMID:15710732|PMID:16183809|PMID:16917909|PMID:17534187|PMID:2070544|PMID:25680289|PMID:25741868|PMID:28492532|PMID:8911604|PMID:8988164 11905038 TBX5 T-box transcription factor 5 gene DOID:9003748 Thumb Deformity ISO RGD:1313887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thumb deformity 11905057 MTMR6 myotubularin related protein 6 gene DOID:630 genetic disease ISO RGD:1313370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905081 CDADC1 cytidine and dCMP deaminase domain containing 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1323516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11905081 CDADC1 cytidine and dCMP deaminase domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1323516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11905081 CDADC1 cytidine and dCMP deaminase domain containing 1 gene DOID:630 genetic disease ISO RGD:1323516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905098 TP53BP2 tumor protein p53 binding protein 2 gene DOID:0050938 breast lobular carcinoma ISO RGD:1313500 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 11905098 TP53BP2 tumor protein p53 binding protein 2 gene DOID:0060412 chromosome 1q41-q42 deletion syndrome ISO RGD:1313501 D RGD:9068941 20220825 MouseDO OMIM:612530 11905098 TP53BP2 tumor protein p53 binding protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1313500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11905098 TP53BP2 tumor protein p53 binding protein 2 gene DOID:630 genetic disease ISO RGD:1313500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905098 TP53BP2 tumor protein p53 binding protein 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1313500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 11905098 TP53BP2 tumor protein p53 binding protein 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1313500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 11905098 TP53BP2 tumor protein p53 binding protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11905118 LOC100992916 chymotrypsin-like elastase family member 2A gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602468 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11905118 LOC100992916 chymotrypsin-like elastase family member 2A gene DOID:0080945 abdominal obesity-metabolic syndrome 4 ISO RGD:1602468 D RGD:7240710 20200610 OMIM 11905118 LOC100992916 chymotrypsin-like elastase family member 2A gene DOID:0080945 abdominal obesity-metabolic syndrome 4 ISO RGD:1602468 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4 PMID:31358993 11905118 LOC100992916 chymotrypsin-like elastase family member 2A gene DOID:10763 hypertension ISO RGD:1602468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertension PMID:31358993 11905118 LOC100992916 chymotrypsin-like elastase family member 2A gene DOID:1936 atherosclerosis ISO RGD:1602468 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:31358993 11905118 LOC100992916 chymotrypsin-like elastase family member 2A gene DOID:3393 coronary artery disease ISO RGD:1602468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease PMID:31358993 11905118 LOC100992916 chymotrypsin-like elastase family member 2A gene DOID:630 genetic disease ISO RGD:1602468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905118 LOC100992916 chymotrypsin-like elastase family member 2A gene DOID:9006599 Hypertriglyceridemia ISO RGD:1602468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia PMID:31358993 11905118 LOC100992916 chymotrypsin-like elastase family member 2A gene DOID:9006646 Metabolic Syndrome ISO RGD:1602468 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:31358993 11905118 LOC100992916 chymotrypsin-like elastase family member 2A gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1602468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23721890|PMID:28492532 11905118 LOC100992916 chymotrypsin-like elastase family member 2A gene DOID:9351 diabetes mellitus ISO RGD:1602468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes PMID:31358993 11905130 NEFM neurofilament medium chain gene DOID:0050328 congenital hypothyroidism ISO RGD:3160 D RGD:9068941 20200609 RGD protein:decreased expression, increased phosphorylation PMID:18845185|REF_RGD_ID:9693732 11905130 NEFM neurofilament medium chain gene DOID:10652 Alzheimer's disease ISO RGD:735476 D RGD:9068941 20200609 RGD protein:decreased glycosylation:cerebral cortex PMID:17687114|REF_RGD_ID:9743945 11905130 NEFM neurofilament medium chain gene DOID:11446 sciatic neuropathy ISO RGD:3160 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1 PMID:12638730|REF_RGD_ID:9743948 11905130 NEFM neurofilament medium chain gene DOID:11446 sciatic neuropathy ISO RGD:3160 D RGD:9068941 20201211 RGD PMID:3135913|REF_RGD_ID:9693730 11905130 NEFM neurofilament medium chain gene DOID:11446 sciatic neuropathy treatment ISO RGD:3160 D RGD:9068941 20200609 RGD PMID:12445968|REF_RGD_ID:9743941 11905130 NEFM neurofilament medium chain gene DOID:1459 hypothyroidism treatment ISO RGD:3160 D RGD:9068941 20200609 RGD PMID:10439464|REF_RGD_ID:9743942 11905130 NEFM neurofilament medium chain gene DOID:224 transient cerebral ischemia ISO RGD:3160 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:8726968|REF_RGD_ID:9743938 11905130 NEFM neurofilament medium chain gene DOID:289 endometriosis ISO RGD:735476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11905130 NEFM neurofilament medium chain gene DOID:332 amyotrophic lateral sclerosis ISO RGD:730855 D RGD:9068941 20200609 RGD PMID:16006557|REF_RGD_ID:9698444 11905130 NEFM neurofilament medium chain gene DOID:3525 middle cerebral artery infarction ISO RGD:10970 D RGD:9068941 20201211 RGD protein:altered expression:brain PMID:29967576|REF_RGD_ID:27226878 11905130 NEFM neurofilament medium chain gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735476 D RGD:9068941 20201211 RGD protein:increased serine/threonine phosphorylation:brain PMID:26033855|REF_RGD_ID:40886309 11905130 NEFM neurofilament medium chain gene DOID:630 genetic disease ISO RGD:735476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905130 NEFM neurofilament medium chain gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:3160 D RGD:9068941 20200609 RGD PMID:18772508|REF_RGD_ID:9698443 11905130 NEFM neurofilament medium chain gene DOID:9002498 Wallerian Degeneration ISO RGD:3160 D RGD:9068941 20200609 RGD protein:decreased expression:neuron PMID:10646539|REF_RGD_ID:9698439 11905130 NEFM neurofilament medium chain gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:3160 D RGD:9068941 20200609 RGD PMID:12941778|REF_RGD_ID:9698428 11905130 NEFM neurofilament medium chain gene DOID:9005695 Malnutrition ISO RGD:3160 D RGD:9068941 20201211 RGD protein:increased expression:cerebral cortex PMID:1908892|REF_RGD_ID:40902817 11905130 NEFM neurofilament medium chain gene DOID:9008091 Optic Nerve Injuries ISO RGD:3160 D RGD:9068941 20200609 RGD PMID:8501527|REF_RGD_ID:9743936 11905137 PMVK phosphomevalonate kinase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1321931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11905137 PMVK phosphomevalonate kinase gene DOID:0111940 immunodeficiency 42 ISO RGD:1321931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11905137 PMVK phosphomevalonate kinase gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1321931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11905137 PMVK phosphomevalonate kinase gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1321931 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11905137 PMVK phosphomevalonate kinase gene DOID:1540 parathyroid carcinoma ISO RGD:1321931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11905137 PMVK phosphomevalonate kinase gene DOID:3805 porokeratosis ISO RGD:1321931 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Linear porokeratosis PMID:25741868|PMID:30942823 11905137 PMVK phosphomevalonate kinase gene DOID:5812 MHC class II deficiency ISO RGD:1321931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11905137 PMVK phosphomevalonate kinase gene DOID:630 genetic disease ISO RGD:1321931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905137 PMVK phosphomevalonate kinase gene DOID:9007627 Porokeratosis 1, Multiple Types ISO RGD:1321931 D RGD:7240710 20180130 OMIM 11905137 PMVK phosphomevalonate kinase gene DOID:9007627 Porokeratosis 1, Multiple Types ISO RGD:1321931 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Porokeratosis 1, multiple types | ClinVar Annotator: match by term: Porokeratosis of Mibelli PMID:25741868|PMID:26202976|PMID:30942823 11905137 PMVK phosphomevalonate kinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11905146 CNTF ciliary neurotrophic factor gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:734034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11951178 11905146 CNTF ciliary neurotrophic factor gene DOID:10126 keratoconus ISO RGD:734034 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:corneal epithelium: PMID:23489213|REF_RGD_ID:8655632 11905146 CNTF ciliary neurotrophic factor gene DOID:10584 retinitis pigmentosa disease_progression ISO RGD:2370 D RGD:9068941 20210709 RGD associated with lens injury PMID:24558606|REF_RGD_ID:40818112 11905146 CNTF ciliary neurotrophic factor gene DOID:1059 intellectual disability ISO RGD:734034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11905146 CNTF ciliary neurotrophic factor gene DOID:12858 Huntington's disease ISO RGD:2370 D RGD:9068941 20200609 RGD PMID:12040055|REF_RGD_ID:628474 11905146 CNTF ciliary neurotrophic factor gene DOID:12858 Huntington's disease treatment ISO RGD:734034 D RGD:9068941 20200609 RGD human gene in a cynomolgus monkey model PMID:9121555|REF_RGD_ID:734795 11905146 CNTF ciliary neurotrophic factor gene DOID:150 disease of mental health ISO RGD:734034 D RGD:9068941 20200820 RGD PMID:8834105|REF_RGD_ID:1358522 11905146 CNTF ciliary neurotrophic factor gene DOID:1686 glaucoma ISO RGD:734034 D RGD:9068941 20200609 RGD PMID:19060281|REF_RGD_ID:8655853 11905146 CNTF ciliary neurotrophic factor gene DOID:1686 glaucoma ameliorates ISO RGD:2370 D RGD:9068941 20230415 RGD PMID:14725620|REF_RGD_ID:1626115 11905146 CNTF ciliary neurotrophic factor gene DOID:2377 multiple sclerosis onset ISO RGD:734034 D RGD:9068941 20200609 RGD DNA:point mutation:intron:G-to-A transition at -6 from the start of exon 2, leads to aberrant splicing, frameshift and a truncated protein PMID:11890844|REF_RGD_ID:1626112 11905146 CNTF ciliary neurotrophic factor gene DOID:332 amyotrophic lateral sclerosis susceptibility ISO RGD:737002 D RGD:9068941 20200609 RGD PMID:11951178|REF_RGD_ID:734796 11905146 CNTF ciliary neurotrophic factor gene DOID:4195 hyperglycemia ISO RGD:2370 D RGD:9068941 20200609 RGD protein:decreased expression:sciatic nerve:resulting from galactose feeding or streptozotocin-induced diabetes PMID:1571789|REF_RGD_ID:1626119 11905146 CNTF ciliary neurotrophic factor gene DOID:630 genetic disease ISO RGD:734034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905146 CNTF ciliary neurotrophic factor gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:2370 D RGD:9068941 20200609 RGD PMID:8125754|REF_RGD_ID:8655591 11905146 CNTF ciliary neurotrophic factor gene DOID:9002676 Cerebral Hemorrhage ISO RGD:734034 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11701153 11905146 CNTF ciliary neurotrophic factor gene DOID:9002955 Nerve Degeneration ISO RGD:734034 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15372491 11905146 CNTF ciliary neurotrophic factor gene DOID:9970 obesity ISO RGD:734034 D RGD:9068941 20200609 RGD DNA:point mutation:intron:G>A PMID:12404108|REF_RGD_ID:1626113 11905146 CNTF ciliary neurotrophic factor gene DOID:9970 obesity no_association ISO RGD:734034 D RGD:9068941 20200609 RGD DNA:point mutation:intron:G>A PMID:14747836|REF_RGD_ID:1626114 11905154 FAM172A family with sequence similarity 172 member A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605018 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11905154 FAM172A family with sequence similarity 172 member A gene DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome ISO RGD:1605018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome PMID:24462372 11905154 FAM172A family with sequence similarity 172 member A gene DOID:630 genetic disease ISO RGD:1605018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905154 FAM172A family with sequence similarity 172 member A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11905154 FAM172A family with sequence similarity 172 member A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605018 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11905178 FAH fumarylacetoacetate hydrolase gene DOID:0050726 tyrosinemia type I ISO RGD:733367 D RGD:7240710 20180425 OMIM 11905178 FAH fumarylacetoacetate hydrolase gene DOID:0050726 tyrosinemia type I ISO RGD:733367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tyrosinemia type I PMID:10073910|PMID:10508789|PMID:11196105|PMID:11278491|PMID:11476670|PMID:11754109|PMID:12203990|PMID:12555948|PMID:1401056|PMID:14691918|PMID:15187789|PMID:15465000|PMID:15638932|PMID:16199547|PMID:16521249|PMID:17576681|PMID:19569981|PMID:20301688|PMID:21117323|PMID:21752152|PMID:21764616|PMID:22145516|PMID:22554029|PMID:22802474|PMID:22884142|PMID:22975760|PMID:23000314|PMID:23193487|PMID:23225041|PMID:23348723|PMID:23430822|PMID:23430836|PMID:23895425|PMID:23927806|PMID:24016420|PMID:24033266|PMID:24516753|PMID:24555242|PMID:24756054|PMID:25081276|PMID:25087612|PMID:25256450|PMID:25525159|PMID:25564536|PMID:25681080|PMID:25741868|PMID:26565546|PMID:27093575|PMID:27397503|PMID:27814443|PMID:28039895|PMID:28468868|PMID:28492532|PMID:28755182|PMID:28755192|PMID:29326876|PMID:29497141|PMID:30414057|PMID:306090409|PMID:30954369|PMID:31030436|PMID:31300554|PMID:31568711|PMID:31965297|PMID:31998365|PMID:32832707|PMID:7550234|PMID:7757089|PMID:7929843|PMID:7942842|PMID:7977370|PMID:8005583|PMID:8028615|PMID:8076937|PMID:8162054|PMID:8204664|PMID:8318997|PMID:8364576|PMID:8557261|PMID:8723690|PMID:8723698|PMID:8821854|PMID:8829657|PMID:9101289|PMID:9536098|PMID:9633815|PMID:9705236 11905178 FAH fumarylacetoacetate hydrolase gene DOID:0050726 tyrosinemia type I treatment ISO RGD:62225 D RGD:9068941 20200609 RGD PMID:30368954|REF_RGD_ID:14401588 11905178 FAH fumarylacetoacetate hydrolase gene DOID:0080125 mitochondrial DNA depletion syndrome 6 ISO RGD:733367 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Navajo neurohepatopathy PMID:16199547|PMID:25681080|PMID:25741868|PMID:28492532|PMID:9101289|PMID:9633815 11905178 FAH fumarylacetoacetate hydrolase gene DOID:0080600 COVID-19 ISO RGD:733367 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11905178 FAH fumarylacetoacetate hydrolase gene DOID:10763 hypertension ISO RGD:61932 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:15731461|REF_RGD_ID:1559295 11905178 FAH fumarylacetoacetate hydrolase gene DOID:2717 Bloom syndrome ISO RGD:733367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11905178 FAH fumarylacetoacetate hydrolase gene DOID:409 liver disease ISO RGD:62225 D RGD:9068941 20200609 RGD PMID:7545495|REF_RGD_ID:737742 11905178 FAH fumarylacetoacetate hydrolase gene DOID:5082 liver cirrhosis ISO RGD:61932 D RGD:9068941 20200609 RGD PMID:27510266|REF_RGD_ID:14398823 11905178 FAH fumarylacetoacetate hydrolase gene DOID:630 genetic disease ISO RGD:733367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11905178 FAH fumarylacetoacetate hydrolase gene DOID:687 hepatoblastoma ISO RGD:733367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 11905178 FAH fumarylacetoacetate hydrolase gene DOID:9007874 Liver Failure ISO RGD:61932 D RGD:9068941 20200609 RGD PMID:27510266|REF_RGD_ID:14398823 11905178 FAH fumarylacetoacetate hydrolase gene DOID:9256 colorectal cancer ISO RGD:733367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11905178 FAH fumarylacetoacetate hydrolase gene DOID:9275 tyrosinemia ISO RGD:733367 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: FAH deficiency | ClinVar Annotator: match by term: Hypertyrosinemia | ClinVar Annotator: match by term: Tyrosinemia PMID:20301688|PMID:25741868|PMID:28492532|PMID:7977370 11905206 GUCA1B guanylate cyclase activator 1B gene DOID:0050444 infantile Refsum disease ISO RGD:1317826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11905206 GUCA1B guanylate cyclase activator 1B gene DOID:0050795 cone dystrophy ISO RGD:1317826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:15505030|PMID:25741868|PMID:28492532 11905206 GUCA1B guanylate cyclase activator 1B gene DOID:0080314 cone-rod dystrophy 14 ISO RGD:1317826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy 3 PMID:15505030|PMID:25741868|PMID:28492532 11905206 GUCA1B guanylate cyclase activator 1B gene DOID:0110382 retinitis pigmentosa 48 ISO RGD:1317826 D RGD:7240710 20180130 OMIM 11905206 GUCA1B guanylate cyclase activator 1B gene DOID:0110382 retinitis pigmentosa 48 ISO RGD:1317826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 48 PMID:15452722|PMID:15505030|PMID:22025579|PMID:25741868|PMID:26161267|PMID:28492532|PMID:33812995 11905206 GUCA1B guanylate cyclase activator 1B gene DOID:10584 retinitis pigmentosa ISO RGD:1317826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15452722|PMID:15505030|PMID:22025579|PMID:25741868|PMID:26161267|PMID:28492532 11905206 GUCA1B guanylate cyclase activator 1B gene DOID:10584 retinitis pigmentosa ISO RGD:1317826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:15452722|PMID:15505030|PMID:22025579|PMID:25741868|PMID:26161267|PMID:28492532|PMID:33812995 11905206 GUCA1B guanylate cyclase activator 1B gene DOID:14791 Leber congenital amaurosis ISO RGD:1317826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25445212|PMID:28492532 11905206 GUCA1B guanylate cyclase activator 1B gene DOID:630 genetic disease ISO RGD:1317826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11905206 GUCA1B guanylate cyclase activator 1B gene DOID:905 Zellweger syndrome ISO RGD:1317826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11905214 AP1S1 adaptor related protein complex 1 subunit sigma 1 gene DOID:0060483 MEDNIK syndrome ISO RGD:1314226 D RGD:7240710 20180130 OMIM 11905214 AP1S1 adaptor related protein complex 1 subunit sigma 1 gene DOID:0060483 MEDNIK syndrome ISO RGD:1314226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MEDNIK syndrome PMID:1905767|PMID:19057675|PMID:23423674|PMID:25741868|PMID:28492532|PMID:30244301 11905214 AP1S1 adaptor related protein complex 1 subunit sigma 1 gene DOID:1852 intrahepatic cholestasis ISO RGD:1314226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23423674 11905214 AP1S1 adaptor related protein complex 1 subunit sigma 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11905214 AP1S1 adaptor related protein complex 1 subunit sigma 1 gene DOID:630 genetic disease ISO RGD:1314226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:19057675|PMID:23423674|PMID:28492532 11905214 AP1S1 adaptor related protein complex 1 subunit sigma 1 gene DOID:9008533 Plasminogen Activator Inhibitor-1 Deficiency ISO RGD:1314226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY PMID:21681106 11905214 AP1S1 adaptor related protein complex 1 subunit sigma 1 gene DOID:9455 lipid storage disease ISO RGD:1314226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17175557 11905232 GKAP1 G kinase anchoring protein 1 gene DOID:630 genetic disease ISO RGD:1315863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905251 LRRC38 leucine rich repeat containing 38 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602439 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11905251 LRRC38 leucine rich repeat containing 38 gene DOID:630 genetic disease ISO RGD:1602439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905257 NPFFR1 neuropeptide FF receptor 1 gene DOID:630 genetic disease ISO RGD:1351737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905268 WASHC4 WASH complex subunit 4 gene DOID:0081207 autosomal recessive intellectual developmental disorder 43 ISO RGD:1603694 D RGD:7240710 20180130 OMIM 11905268 WASHC4 WASH complex subunit 4 gene DOID:0081207 autosomal recessive intellectual developmental disorder 43 ISO RGD:1603694 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 43 PMID:21498477|PMID:25741868|PMID:28492532|PMID:31953988|PMID:34599609 11905268 WASHC4 WASH complex subunit 4 gene DOID:630 genetic disease ISO RGD:1603694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11905268 WASHC4 WASH complex subunit 4 gene DOID:9169 Wiskott-Aldrich syndrome ISO RGD:1320642 D RGD:9068941 20220825 MouseDO OMIM:301000 11905313 SLFN5 schlafen family member 5 gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:1603889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 11905313 SLFN5 schlafen family member 5 gene DOID:630 genetic disease ISO RGD:1603889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905322 PAQR5 progestin and adipoQ receptor family member 5 gene DOID:2717 Bloom syndrome ISO RGD:1606550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11905322 PAQR5 progestin and adipoQ receptor family member 5 gene DOID:630 genetic disease ISO RGD:1606550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905322 PAQR5 progestin and adipoQ receptor family member 5 gene DOID:9256 colorectal cancer ISO RGD:1606550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11905341 BMP1 bone morphogenetic protein 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1605441 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:24033266|PMID:25741868|PMID:28492532 11905341 BMP1 bone morphogenetic protein 1 gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:1605441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type III PMID:25741868 11905341 BMP1 bone morphogenetic protein 1 gene DOID:0110342 osteogenesis imperfecta type 13 ISO RGD:1605441 D RGD:7240710 20180130 OMIM 11905341 BMP1 bone morphogenetic protein 1 gene DOID:0110342 osteogenesis imperfecta type 13 ISO RGD:1605441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 13 | ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiii PMID:15542026|PMID:22052668|PMID:22482805|PMID:24091809|PMID:24648371|PMID:25214535|PMID:25402547|PMID:25741868|PMID:28492532|PMID:29499418 11905341 BMP1 bone morphogenetic protein 1 gene DOID:12347 osteogenesis imperfecta ISO RGD:1605441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive PMID:24033266|PMID:25741868 11905341 BMP1 bone morphogenetic protein 1 gene DOID:12347 osteogenesis imperfecta ISO RGD:1605441 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:24033266|PMID:25741868|PMID:28492532 11905341 BMP1 bone morphogenetic protein 1 gene DOID:630 genetic disease ISO RGD:1605441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11905341 BMP1 bone morphogenetic protein 1 gene DOID:9000955 Acute Otitis Media ISO RGD:1551822 D RGD:9068941 20210611 RGD mRNA:increased expression:middle ear (mouse) PMID:21889218|REF_RGD_ID:127284853 11905341 BMP1 bone morphogenetic protein 1 gene DOID:9003953 Surfactant Dysfunction ISO RGD:1605441 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction PMID:24033266|PMID:28492532 11905341 BMP1 bone morphogenetic protein 1 gene DOID:9005976 Pulmonary Surfactant Metabolism Dysfunction 2 ISO RGD:1605441 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2 PMID:24033266|PMID:25741868|PMID:28492532 11905341 BMP1 bone morphogenetic protein 1 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1605441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 11905372 NIP7 nucleolar pre-rRNA processing protein NIP7 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:732109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11905372 NIP7 nucleolar pre-rRNA processing protein NIP7 gene DOID:630 genetic disease ISO RGD:732109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905381 SOCS7 suppressor of cytokine signaling 7 gene DOID:4001 ovarian carcinoma ISO RGD:1317076 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:30365097 11905381 SOCS7 suppressor of cytokine signaling 7 gene DOID:630 genetic disease ISO RGD:1317076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905394 KYAT1 kynurenine aminotransferase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1315794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11905394 KYAT1 kynurenine aminotransferase 1 gene DOID:305 carcinoma ISO RGD:1315794 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20663906 11905394 KYAT1 kynurenine aminotransferase 1 gene DOID:630 genetic disease ISO RGD:1315794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905394 KYAT1 kynurenine aminotransferase 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:1315794 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20663906 11905394 KYAT1 kynurenine aminotransferase 1 gene DOID:9002457 Experimental Arthritis ISO RGD:1306912 D RGD:9068941 20200609 RGD PMID:16984225|REF_RGD_ID:2306289 11905413 CNTNAP5 contactin associated protein family member 5 gene DOID:630 genetic disease ISO RGD:1313519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905441 DUSP18 dual specificity phosphatase 18 gene DOID:630 genetic disease ISO RGD:1315821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905464 EPHB1 EPH receptor B1 gene DOID:0080600 COVID-19 ISO RGD:1353347 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11905464 EPHB1 EPH receptor B1 gene DOID:0080685 aortic dissection ISO RGD:1353347 D RGD:9068941 20220929 RGD protein:increased phosphorylation:aorta (human) PMID:30787994|REF_RGD_ID:155260309 11905464 EPHB1 EPH receptor B1 gene DOID:10283 prostate cancer susceptibility ISO RGD:1353347 D RGD:9068941 20220811 RGD DNA:SNPs,haplptype:multiple PMID:21603658|REF_RGD_ID:153305950 11905464 EPHB1 EPH receptor B1 gene DOID:10534 stomach cancer ISO RGD:1353347 D RGD:9068941 20220811 RGD mRNA:increased expression:stomach (human) PMID:12136247|REF_RGD_ID:153323289 11905464 EPHB1 EPH receptor B1 gene DOID:5844 myocardial infarction ameliorates ISO RGD:2556 D RGD:9068941 20230427 RGD PMID:28622474|REF_RGD_ID:329333030 11905464 EPHB1 EPH receptor B1 gene DOID:630 genetic disease ISO RGD:1353347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905464 EPHB1 EPH receptor B1 gene DOID:684 hepatocellular carcinoma ISO RGD:1551682 D RGD:9068941 20210702 RGD protein:increased phosphorylation:liver (mouse) PMID:28100771|REF_RGD_ID:127285675 11905464 EPHB1 EPH receptor B1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1353347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 11905487 SH2D4B SH2 domain containing 4B gene DOID:630 genetic disease ISO RGD:1323129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905502 ATF5 activating transcription factor 5 gene DOID:12858 Huntington's disease ISO RGD:1350993 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:28861715 11905502 ATF5 activating transcription factor 5 gene DOID:3070 high grade glioma ISO RGD:1350993 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:28861715 11905502 ATF5 activating transcription factor 5 gene DOID:630 genetic disease ISO RGD:1350993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905509 PRAMEF7 PRAME family member 7 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603801 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11905509 PRAMEF7 PRAME family member 7 gene DOID:630 genetic disease ISO RGD:1603801 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:0050441 mucosulfatidosis ISO RGD:732978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple sulfatase deficiency PMID:28492532 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:0050753 cerebellar ataxia ISO RGD:732978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:0050952 spastic ataxia ISO RGD:732978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:26467025 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:0050965 spinocerebellar ataxia type 15 ISO RGD:732978 D RGD:7240710 20180130 OMIM 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:0050965 spinocerebellar ataxia type 15 ISO RGD:732978 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 15/16 PMID:14981189|PMID:17932120|PMID:18579805|PMID:20669319|PMID:21681106|PMID:24091540|PMID:25326635|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29925855|PMID:31632679|PMID:34008892 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:0050978 spinocerebellar ataxia type 29 ISO RGD:732978 D RGD:7240710 20180130 OMIM 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:0050978 spinocerebellar ataxia type 29 ISO RGD:732978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 29 PMID:10664581|PMID:15623688|PMID:23806086|PMID:24088041|PMID:24091540|PMID:25326635|PMID:25326637|PMID:25741868|PMID:25794864|PMID:25981959|PMID:26257172|PMID:26467025|PMID:27062503|PMID:27108798|PMID:27572814|PMID:28488678|PMID:28492532|PMID:28620721|PMID:28659154|PMID:28826917|PMID:29389947|PMID:29925855|PMID:30778698|PMID:31632679|PMID:32499604|PMID:33163565|PMID:35351177 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:0060319 cardiac arrest ISO RGD:2933 D RGD:9068941 20200609 RGD protein:increased expression:cerebellum (rat) PMID:21859719|REF_RGD_ID:6480675 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:0060648 anterior segment dysgenesis ISO RGD:732978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:25741868|PMID:27108798|PMID:32499604 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:0070111 Niemann-Pick disease type A disease_progression ISO RGD:10821 D RGD:9068941 20200609 RGD protein:decreased expression:cerebellum (mouse) PMID:16277603|REF_RGD_ID:6482797 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:0111578 Gillespie syndrome ISO RGD:732978 D RGD:7240710 20190315 OMIM 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:0111578 Gillespie syndrome ISO RGD:732978 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gillespie syndrome PMID:10664581|PMID:17558851|PMID:17576681|PMID:21465660|PMID:24091540|PMID:25741868|PMID:25794864|PMID:26467025|PMID:27062503|PMID:27108797|PMID:27108798|PMID:27391121|PMID:27862915|PMID:28492532|PMID:28659154|PMID:28826917|PMID:29169895|PMID:29482223|PMID:29925855|PMID:30564305|PMID:32499604|PMID:7952360|PMID:9536098 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:1059 intellectual disability ISO RGD:732978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21367767|PMID:25741868|PMID:26467025|PMID:28492532 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:10652 Alzheimer's disease ISO RGD:732978 D RGD:9068941 20200609 RGD protein:decreased expression:temporal cortex, frontal cortex (human) PMID:8819138|REF_RGD_ID:6482821 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:12858 Huntington's disease ISO RGD:10821 D RGD:9068941 20200609 RGD PMID:19193873|REF_RGD_ID:6480875 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:12858 Huntington's disease ISO RGD:10821 D RGD:9068941 20200609 RGD protein:decreased activity:cerebellum, striatum (mouse) PMID:21145001|REF_RGD_ID:6480685 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:12858 Huntington's disease ISO RGD:2933 D RGD:9068941 20200609 RGD protein:decreased expression:neostriatum (rat) PMID:9761455|REF_RGD_ID:6483009 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:1289 neurodegenerative disease onset ISO RGD:10821 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebellum (mouse) PMID:20219645|REF_RGD_ID:6480870 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:12930 dilated cardiomyopathy no_association ISO RGD:732978 D RGD:9068941 20200609 RGD PMID:8567977|REF_RGD_ID:1556475 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:732978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:17590087|PMID:19423733|PMID:20437544|PMID:21367767|PMID:21555639|PMID:25741868|PMID:26467025|PMID:27108797|PMID:28492532|PMID:28659154|PMID:28660440|PMID:29186133|PMID:29232918|PMID:29758065|PMID:29925855|PMID:30778698 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:1826 epilepsy ISO RGD:10821 D RGD:9068941 20200609 RGD PMID:10426189|REF_RGD_ID:6482816 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:224 transient cerebral ischemia ISO RGD:2933 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex (rat) PMID:7500836|REF_RGD_ID:6482813 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:2841 asthma ISO RGD:2933 D RGD:9068941 20200609 RGD PMID:21777465|REF_RGD_ID:5147661 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:480 movement disease ISO RGD:732978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Movement disorder PMID:25741868 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:630 genetic disease ISO RGD:732978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10664581|PMID:15623688|PMID:17576681|PMID:19344873|PMID:24091540|PMID:25326635|PMID:25741868|PMID:25794864|PMID:26467025|PMID:27062503|PMID:27108797|PMID:27108798|PMID:27572814|PMID:28492532|PMID:28620721|PMID:28659154|PMID:28826917|PMID:29925855|PMID:30778698|PMID:31632679|PMID:32499604|PMID:35351177|PMID:9536098 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:9002120 Congenital Mydriasis ISO RGD:732978 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Bilateral congenital mydriasis PMID:25741868 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:9002211 Hyperalgesia ISO RGD:2933 D RGD:9068941 20200609 RGD PMID:25972297|REF_RGD_ID:13793383 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:9002669 Hypoxia ISO RGD:2933 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus PMID:28072885|REF_RGD_ID:13793382 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732978 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:10664581|PMID:24091540|PMID:25741868|PMID:25794864|PMID:27062503|PMID:28492532|PMID:28659154|PMID:28826917|PMID:29925855 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:9004756 Brain Hypoxia ISO RGD:10821 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebellum (mouse) PMID:17285299|REF_RGD_ID:6482794 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:9004756 Brain Hypoxia ISO RGD:732978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17285299 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:9004866 Ataxia ISO RGD:10821 D RGD:9068941 20200609 RGD PMID:10426189|REF_RGD_ID:6482816 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11905517 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:9351 diabetes mellitus susceptibility ISO RGD:10821 D RGD:9068941 20200609 RGD DNA:deletion:exon:p.Q1715_R1731del (mouse) PMID:21565852|REF_RGD_ID:6480678 11905599 LRRC36 leucine rich repeat containing 36 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11905599 LRRC36 leucine rich repeat containing 36 gene DOID:630 genetic disease ISO RGD:1605363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905623 PLD2 phospholipase D2 gene DOID:11832 visual epilepsy ISO RGD:3350 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:15330336|REF_RGD_ID:2299910 11905623 PLD2 phospholipase D2 gene DOID:4450 renal cell carcinoma ISO RGD:733873 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:11185526|REF_RGD_ID:2299898 11905623 PLD2 phospholipase D2 gene DOID:6000 congestive heart failure ISO RGD:3350 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle PMID:15601581|REF_RGD_ID:2299908 11905623 PLD2 phospholipase D2 gene DOID:630 genetic disease ISO RGD:733873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905623 PLD2 phospholipase D2 gene DOID:9001499 Orthomyxoviridae Infections ISO RGD:733873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25065577 11905623 PLD2 phospholipase D2 gene DOID:9003936 Cardiomegaly ISO RGD:733873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15988127 11905623 PLD2 phospholipase D2 gene DOID:9004009 Reperfusion Injury ISO RGD:3350 D RGD:9068941 20200609 RGD mRNA:decreased expression:brainstem, cerebellum PMID:17024567|REF_RGD_ID:2299902 11905623 PLD2 phospholipase D2 gene DOID:9004009 Reperfusion Injury ISO RGD:3350 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus CA1, hippocampus granule cell layer PMID:17393174|REF_RGD_ID:2299901 11905623 PLD2 phospholipase D2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3350 D RGD:9068941 20200609 RGD protein:altered activity:sarcolemma, sarcoplasmic reticulum, heart left ventricle PMID:15752718|REF_RGD_ID:2299906 11905650 HACD3 3-hydroxyacyl-CoA dehydratase 3 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1605074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11905650 HACD3 3-hydroxyacyl-CoA dehydratase 3 gene DOID:2717 Bloom syndrome ISO RGD:1605074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11905650 HACD3 3-hydroxyacyl-CoA dehydratase 3 gene DOID:630 genetic disease ISO RGD:1605074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905650 HACD3 3-hydroxyacyl-CoA dehydratase 3 gene DOID:9256 colorectal cancer ISO RGD:1605074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11905669 BBX BBX high mobility group box domain containing gene DOID:630 genetic disease ISO RGD:1320282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905720 ACSF2 acyl-CoA synthetase family member 2 gene DOID:630 genetic disease ISO RGD:1604594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905741 LOC100988087 proline-rich protein 23B gene DOID:630 genetic disease ISO RGD:1605791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905746 FAM110D family with sequence similarity 110 member D gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1602464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 11905746 FAM110D family with sequence similarity 110 member D gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1602464 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 11905746 FAM110D family with sequence similarity 110 member D gene DOID:630 genetic disease ISO RGD:1602464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905752 IAH1 isoamyl acetate hydrolyzing esterase 1 (putative) gene DOID:630 genetic disease ISO RGD:1605825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11905752 IAH1 isoamyl acetate hydrolyzing esterase 1 (putative) gene DOID:9001556 Neonatal Inflammatory Skin and Bowel Disease 1 ISO RGD:1605825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inflammatory skin and bowel disease, neonatal, 1 PMID:16199547|PMID:17576681|PMID:22010916|PMID:25741868|PMID:25804906|PMID:26683521|PMID:28492532|PMID:29560122|PMID:31060243|PMID:9536098 11905762 RNF5 ring finger protein 5 gene DOID:0050553 JMP syndrome ISO RGD:1352556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11905762 RNF5 ring finger protein 5 gene DOID:630 genetic disease ISO RGD:1352556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905772 LMX1A LIM homeobox transcription factor 1 alpha gene DOID:0110591 autosomal dominant nonsyndromic deafness 7 ISO RGD:1312426 D RGD:7240710 20200226 OMIM 11905772 LMX1A LIM homeobox transcription factor 1 alpha gene DOID:0110591 autosomal dominant nonsyndromic deafness 7 ISO RGD:1312426 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 7 PMID:25741868|PMID:29754270|PMID:32840933|PMID:35711095|PMID:36140227 11905772 LMX1A LIM homeobox transcription factor 1 alpha gene DOID:10003 sensorineural hearing loss ISO RGD:1312426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:29971487 11905772 LMX1A LIM homeobox transcription factor 1 alpha gene DOID:1540 parathyroid carcinoma ISO RGD:1312426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11905772 LMX1A LIM homeobox transcription factor 1 alpha gene DOID:5419 schizophrenia ISO RGD:1312426 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11905772 LMX1A LIM homeobox transcription factor 1 alpha gene DOID:630 genetic disease ISO RGD:1312426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905772 LMX1A LIM homeobox transcription factor 1 alpha gene DOID:9004538 Hearing Loss ISO RGD:1312426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29971487 11905772 LMX1A LIM homeobox transcription factor 1 alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11905797 EPPIN epididymal peptidase inhibitor gene DOID:2234 focal epilepsy ISO RGD:1315316 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11905797 EPPIN epididymal peptidase inhibitor gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1315316 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11905809 LRRC34 leucine rich repeat containing 34 gene DOID:0050777 Joubert syndrome ISO RGD:1604227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 11905809 LRRC34 leucine rich repeat containing 34 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1604227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 11905809 LRRC34 leucine rich repeat containing 34 gene DOID:1062 Fanconi syndrome ISO RGD:1604227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 11905809 LRRC34 leucine rich repeat containing 34 gene DOID:630 genetic disease ISO RGD:1604227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905839 FAM227B family with sequence similarity 227 member B gene DOID:2717 Bloom syndrome ISO RGD:1605268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11905839 FAM227B family with sequence similarity 227 member B gene DOID:630 genetic disease ISO RGD:1605268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905839 FAM227B family with sequence similarity 227 member B gene DOID:9256 colorectal cancer ISO RGD:1605268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11905859 MAF1 MAF1 homolog, negative regulator of RNA polymerase III gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1601952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11905859 MAF1 MAF1 homolog, negative regulator of RNA polymerase III gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1601952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11905859 MAF1 MAF1 homolog, negative regulator of RNA polymerase III gene DOID:4621 holoprosencephaly ISO RGD:1601952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11905859 MAF1 MAF1 homolog, negative regulator of RNA polymerase III gene DOID:630 genetic disease ISO RGD:1601952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905876 CTNNBL1 catenin beta like 1 gene DOID:11981 morbid obesity no_association ISO RGD:1346196 D RGD:9068941 20200609 RGD DNA:snps:introns:IVS7+3134G>T, IVS7-79A>G (rs6013029, rs6020846) (human) PMID:19228371|REF_RGD_ID:9850253 11905876 CTNNBL1 catenin beta like 1 gene DOID:11981 morbid obesity susceptibility ISO RGD:1346196 D RGD:9068941 20200609 RGD DNA:snps:introns:IVS7+3134G>T, IVS7-79A>G (rs6013029, rs6020846) (human) PMID:19245693|REF_RGD_ID:9850251 11905876 CTNNBL1 catenin beta like 1 gene DOID:2234 focal epilepsy ISO RGD:1346196 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11905876 CTNNBL1 catenin beta like 1 gene DOID:630 genetic disease ISO RGD:1346196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905876 CTNNBL1 catenin beta like 1 gene DOID:9003255 Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias ISO RGD:1346196 D RGD:7240710 20220518 OMIM 11905876 CTNNBL1 catenin beta like 1 gene DOID:9003255 Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias ISO RGD:1346196 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias PMID:32484799 11905876 CTNNBL1 catenin beta like 1 gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1346196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 11905876 CTNNBL1 catenin beta like 1 gene DOID:9256 colorectal cancer ISO RGD:1346196 D RGD:9068941 20200609 RGD DNA:snps:introns: c.326+4380A>G, c.1213+1838T>C, c.1393-7258G>A (rs2344481, rs2281148, rs2235460) (human) PMID:21537400|REF_RGD_ID:9850254 11905940 CEBPZOS CEBPZ opposite strand gene DOID:630 genetic disease ISO RGD:7380495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905949 NRGN neurogranin gene DOID:0110877 holoprosencephaly 11 ISO RGD:733655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11905949 NRGN neurogranin gene DOID:0111723 Jacobsen Syndrome ISO RGD:733655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11905949 NRGN neurogranin gene DOID:10652 Alzheimer's disease ISO RGD:733655 D RGD:9068941 20200609 RGD PMID:9329454|REF_RGD_ID:9835394 11905949 NRGN neurogranin gene DOID:11832 visual epilepsy ISO RGD:61833 D RGD:9068941 20200609 RGD PMID:11054811|REF_RGD_ID:9685329 11905949 NRGN neurogranin gene DOID:1459 hypothyroidism ISO RGD:61833 D RGD:9068941 20200609 RGD protein:decreased expression:dentate gyrus of hippocampal formation, Ammon's horn PMID:20041985|REF_RGD_ID:9835423 11905949 NRGN neurogranin gene DOID:1459 hypothyroidism treatment ISO RGD:61833 D RGD:9068941 20200609 RGD PMID:16004982|REF_RGD_ID:9835430 11905949 NRGN neurogranin gene DOID:5419 schizophrenia ISO RGD:733655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11905949 NRGN neurogranin gene DOID:630 genetic disease ISO RGD:733655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905949 NRGN neurogranin gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:61833 D RGD:9068941 20200609 RGD PMID:17579784|REF_RGD_ID:9835426 11905949 NRGN neurogranin gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11905949 NRGN neurogranin gene DOID:9007661 Dwarfism ISO RGD:733655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11905949 NRGN neurogranin gene DOID:9007980 Sleep Deprivation ISO RGD:61833 D RGD:9068941 20200609 RGD PMID:7583240|REF_RGD_ID:9835425 11905969 GJA8 gap junction protein alpha 8 gene DOID:0060041 autism spectrum disorder ISO RGD:732563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 11905969 GJA8 gap junction protein alpha 8 gene DOID:0060411 chromosome 1q21.1 deletion syndrome ISO RGD:732563 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: 1q21.1 Deletion | ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome PMID:25741868|PMID:26694549|PMID:28492532 11905969 GJA8 gap junction protein alpha 8 gene DOID:0060435 chromosome 1q21.1 duplication syndrome ISO RGD:732563 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome 11905969 GJA8 gap junction protein alpha 8 gene DOID:0060648 anterior segment dysgenesis ISO RGD:732563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:32499604 11905969 GJA8 gap junction protein alpha 8 gene DOID:0110231 cataract 1 multiple types ISO RGD:732563 D RGD:7240710 20180130 OMIM 11905969 GJA8 gap junction protein alpha 8 gene DOID:0110231 cataract 1 multiple types ISO RGD:732563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CATARACT 1, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 1 multiple types | ClinVar Annotator: match by term: Zonular Pulverulent Cataract PMID:10362609|PMID:10480374|PMID:11846744|PMID:12800976|PMID:14059288|PMID:14627691|PMID:16397066|PMID:16604058|PMID:16611690|PMID:17601931|PMID:17724170|PMID:18003700|PMID:18006672|PMID:18334946|PMID:18334966|PMID:18587493|PMID:19073179|PMID:19126675|PMID:19331825|PMID:19684000|PMID:21174522|PMID:21228318|PMID:21686328|PMID:23508780|PMID:23555834|PMID:23720739|PMID:23734083|PMID:23772370|PMID:24281366|PMID:24535056|PMID:24968223|PMID:25003127|PMID:25260631|PMID:25517998|PMID:25741868|PMID:26694549|PMID:27216975|PMID:27990357|PMID:28392901|PMID:28492532|PMID:29461512|PMID:29464339|PMID:30078984|PMID:30498267|PMID:30928190|PMID:33218330|PMID:33494148|PMID:34101287|PMID:35531093|PMID:9497259 11905969 GJA8 gap junction protein alpha 8 gene DOID:0110233 cataract 27 ISO RGD:732563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14627691 11905969 GJA8 gap junction protein alpha 8 gene DOID:10629 microphthalmia ISO RGD:732563 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Microphthalmia PMID:25741868 11905969 GJA8 gap junction protein alpha 8 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:732563 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:25741868|PMID:26694549|PMID:28492532 11905969 GJA8 gap junction protein alpha 8 gene DOID:1540 parathyroid carcinoma ISO RGD:732563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11905969 GJA8 gap junction protein alpha 8 gene DOID:5419 schizophrenia ISO RGD:732563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11905969 GJA8 gap junction protein alpha 8 gene DOID:630 genetic disease ISO RGD:732563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19684000|PMID:21686328|PMID:26694549|PMID:27785597|PMID:28455998|PMID:28492532 11905969 GJA8 gap junction protein alpha 8 gene DOID:83 cataract ISO RGD:732563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:18334946|PMID:21228318|PMID:25003127|PMID:25741868|PMID:26694549|PMID:28392901|PMID:28492532|PMID:29464339|PMID:30498267 11905969 GJA8 gap junction protein alpha 8 gene DOID:9003799 Cataract Microcornea Syndrome ISO RGD:732563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract microcornea syndrome PMID:18334946|PMID:21228318|PMID:25003127|PMID:25741868|PMID:26694549|PMID:28392901|PMID:28492532|PMID:29464339|PMID:30498267 11905969 GJA8 gap junction protein alpha 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11905969 GJA8 gap junction protein alpha 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11905976 PGLYRP2 peptidoglycan recognition protein 2 gene DOID:630 genetic disease ISO RGD:1346354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905985 UBAP2L ubiquitin associated protein 2 like gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1354268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11905985 UBAP2L ubiquitin associated protein 2 like gene DOID:0111940 immunodeficiency 42 ISO RGD:1354268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11905985 UBAP2L ubiquitin associated protein 2 like gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1354268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11905985 UBAP2L ubiquitin associated protein 2 like gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1354268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 11905985 UBAP2L ubiquitin associated protein 2 like gene DOID:1540 parathyroid carcinoma ISO RGD:1354268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11905985 UBAP2L ubiquitin associated protein 2 like gene DOID:5812 MHC class II deficiency ISO RGD:1354268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11905985 UBAP2L ubiquitin associated protein 2 like gene DOID:630 genetic disease ISO RGD:1354268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11905985 UBAP2L ubiquitin associated protein 2 like gene DOID:9008086 Developmental Disabilities ISO RGD:1354268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11905985 UBAP2L ubiquitin associated protein 2 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11906049 KBTBD13 kelch repeat and BTB domain containing 13 gene DOID:0110935 nemaline myopathy 6 ISO RGD:3130125 D RGD:7240710 20180130 OMIM 11906049 KBTBD13 kelch repeat and BTB domain containing 13 gene DOID:0110935 nemaline myopathy 6 ISO RGD:3130125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:18414213|PMID:21104864|PMID:21109227|PMID:21681106|PMID:24525055|PMID:25741868|PMID:26467025|PMID:27074222|PMID:28492532|PMID:29382405|PMID:30208948|PMID:31127727|PMID:31167812|PMID:31475037|PMID:31671076|PMID:31828823|PMID:33693846 11906049 KBTBD13 kelch repeat and BTB domain containing 13 gene DOID:2717 Bloom syndrome ISO RGD:3130125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11906049 KBTBD13 kelch repeat and BTB domain containing 13 gene DOID:3191 nemaline myopathy ISO RGD:3130125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Dominant PMID:25741868 11906049 KBTBD13 kelch repeat and BTB domain containing 13 gene DOID:630 genetic disease ISO RGD:3130125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11906049 KBTBD13 kelch repeat and BTB domain containing 13 gene DOID:9256 colorectal cancer ISO RGD:3130125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11906053 C2BH2orf69 chromosome 2B C2orf69 homolog gene DOID:630 genetic disease ISO RGD:1603539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906053 C2BH2orf69 chromosome 2B C2orf69 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11906053 C2BH2orf69 chromosome 2B C2orf69 homolog gene DOID:9005629 Combined Oxidative Phosphorylation Deficiency 53 ISO RGD:1603539 D RGD:7240710 20210721 OMIM 11906053 C2BH2orf69 chromosome 2B C2orf69 homolog gene DOID:9005629 Combined Oxidative Phosphorylation Deficiency 53 ISO RGD:1603539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 53 PMID:25741868|PMID:33945503|PMID:34038740 11906059 AGFG2 ArfGAP with FG repeats 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11906059 AGFG2 ArfGAP with FG repeats 2 gene DOID:630 genetic disease ISO RGD:1315293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906077 IYD iodotyrosine deiodinase gene DOID:0050328 congenital hypothyroidism ISO RGD:1345868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism 11906077 IYD iodotyrosine deiodinase gene DOID:0112188 thyroid dyshormonogenesis 4 ISO RGD:1345868 D RGD:7240710 20180130 OMIM 11906077 IYD iodotyrosine deiodinase gene DOID:0112188 thyroid dyshormonogenesis 4 ISO RGD:1345868 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: DEIODINASE DEFICIENCY | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 4 PMID:13183981|PMID:13333116|PMID:18434651|PMID:18765512|PMID:25741868|PMID:28492532 11906077 IYD iodotyrosine deiodinase gene DOID:630 genetic disease ISO RGD:1345868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:13183981|PMID:13333116|PMID:18434651|PMID:25741868|PMID:28106320|PMID:28492532 11906077 IYD iodotyrosine deiodinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11906097 IGFBP2 insulin like growth factor binding protein 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11906097 IGFBP2 insulin like growth factor binding protein 2 gene DOID:0080600 COVID-19 ISO RGD:737357 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11906097 IGFBP2 insulin like growth factor binding protein 2 gene DOID:10652 Alzheimer's disease ISO RGD:737357 D RGD:9068941 20200609 RGD protein:decreased expression:temporal cortex: PMID:18479783|REF_RGD_ID:10045894 11906097 IGFBP2 insulin like growth factor binding protein 2 gene DOID:10763 hypertension ISO RGD:2873 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver, plasma PMID:9396554|REF_RGD_ID:1626482 11906097 IGFBP2 insulin like growth factor binding protein 2 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:737357 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor of eyeball: PMID:24106111|REF_RGD_ID:10045867 11906097 IGFBP2 insulin like growth factor binding protein 2 gene DOID:1459 hypothyroidism ISO RGD:2873 D RGD:9068941 20200609 RGD PMID:11834454|REF_RGD_ID:1626512 11906097 IGFBP2 insulin like growth factor binding protein 2 gene DOID:2773 contact dermatitis ISO RGD:737357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11906097 IGFBP2 insulin like growth factor binding protein 2 gene DOID:5082 liver cirrhosis ISO RGD:737357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 11906097 IGFBP2 insulin like growth factor binding protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 11906097 IGFBP2 insulin like growth factor binding protein 2 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:737357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11906097 IGFBP2 insulin like growth factor binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11906097 IGFBP2 insulin like growth factor binding protein 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:737357 D RGD:9068941 20200609 RGD PMID:16915540|REF_RGD_ID:1626481 11906097 IGFBP2 insulin like growth factor binding protein 2 gene DOID:9007480 Hyperoxia ISO RGD:2873 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:16288470|REF_RGD_ID:1626492 11906097 IGFBP2 insulin like growth factor binding protein 2 gene DOID:9007692 Insulin Resistance ISO RGD:737357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22537059 11906097 IGFBP2 insulin like growth factor binding protein 2 gene DOID:9007692 Insulin Resistance ISO RGD:737357 D RGD:9068941 20200609 RGD PMID:17259371|REF_RGD_ID:1626479 11906097 IGFBP2 insulin like growth factor binding protein 2 gene DOID:9970 obesity ISO RGD:737357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22537059 11906097 IGFBP2 insulin like growth factor binding protein 2 gene DOID:9970 obesity ISO RGD:737357 D RGD:9068941 20200609 RGD PMID:17259371|PMID:17426323|REF_RGD_ID:1626478|REF_RGD_ID:1626479 11906105 TBC1D12 TBC1 domain family member 12 gene DOID:630 genetic disease ISO RGD:1343312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906129 SIRT6 sirtuin 6 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:1305216 D RGD:9068941 20200609 RGD PMID:21373642|REF_RGD_ID:6484527 11906129 SIRT6 sirtuin 6 gene DOID:10763 hypertension exacerbates ISO RGD:1313111 D RGD:9068941 20221006 RGD PMID:30894089|REF_RGD_ID:155260334 11906129 SIRT6 sirtuin 6 gene DOID:12932 endomyocardial fibrosis ISO RGD:1313110 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:34713381 11906129 SIRT6 sirtuin 6 gene DOID:13938 amenorrhea ISO RGD:1313110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11906129 SIRT6 sirtuin 6 gene DOID:224 transient cerebral ischemia ISO RGD:1305216 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brain PMID:23899523|REF_RGD_ID:9586062 11906129 SIRT6 sirtuin 6 gene DOID:2843 long QT syndrome ISO RGD:1313110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11906129 SIRT6 sirtuin 6 gene DOID:3911 progeria ISO RGD:1313111 D RGD:9068941 20220825 MouseDO OMIM:176670 11906129 SIRT6 sirtuin 6 gene DOID:5426 primary ovarian insufficiency ISO RGD:1313110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11906129 SIRT6 sirtuin 6 gene DOID:630 genetic disease ISO RGD:1313110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906129 SIRT6 sirtuin 6 gene DOID:9000784 Fibrosis ISO RGD:1313110 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:35798905 11906129 SIRT6 sirtuin 6 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1313110 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:34713381 11906129 SIRT6 sirtuin 6 gene DOID:9002371 Cardiotoxicity ISO RGD:1313110 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:34713381 11906129 SIRT6 sirtuin 6 gene DOID:9003234 Hypertensive Nephropathy ISO RGD:1313110 D RGD:9068941 20221006 RGD protein:decreased expression:kidney PMID:30894089|REF_RGD_ID:155260334 11906129 SIRT6 sirtuin 6 gene DOID:9003936 Cardiomegaly ISO RGD:1305216 D RGD:9068941 20200609 RGD PMID:22335191|REF_RGD_ID:9586060 11906129 SIRT6 sirtuin 6 gene DOID:9003936 Cardiomegaly ISO RGD:1313110 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:22335191|PMID:35798905 11906129 SIRT6 sirtuin 6 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1313110 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:35798905 11906129 SIRT6 sirtuin 6 gene DOID:9007174 Ventricular Remodeling ISO RGD:1313110 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:34713381 11906129 SIRT6 sirtuin 6 gene DOID:9452 fatty liver disease ISO RGD:1313110 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28536482 11906129 SIRT6 sirtuin 6 gene DOID:9970 obesity ISO RGD:1305216 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:24135502|REF_RGD_ID:9586064 11906144 ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350452 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11906144 ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350452 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11906144 ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1350452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11906144 ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1350452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 11906144 ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350452 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11906144 ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1350452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:15879500|PMID:20414677|PMID:28492532 11906144 ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:630 genetic disease ISO RGD:1350452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906167 ZNF79 zinc finger protein 79 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11906167 ZNF79 zinc finger protein 79 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1350135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11906167 ZNF79 zinc finger protein 79 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11906167 ZNF79 zinc finger protein 79 gene DOID:630 genetic disease ISO RGD:1350135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906171 SYNGR3 synaptogyrin 3 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1323444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 11906171 SYNGR3 synaptogyrin 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1323444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11906171 SYNGR3 synaptogyrin 3 gene DOID:1826 epilepsy ISO RGD:1323444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11906171 SYNGR3 synaptogyrin 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1323444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11906171 SYNGR3 synaptogyrin 3 gene DOID:630 genetic disease ISO RGD:1323444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906184 RARRES2 retinoic acid receptor responder 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1309874 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver,serum PMID:23507574|REF_RGD_ID:15036822 11906184 RARRES2 retinoic acid receptor responder 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1320450 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:23507574|REF_RGD_ID:15036822 11906184 RARRES2 retinoic acid receptor responder 2 gene DOID:0080208 non-alcoholic fatty liver disease disease_progression ISO RGD:1320451 D RGD:9068941 20200609 RGD PMID:23507574|REF_RGD_ID:15036822 11906184 RARRES2 retinoic acid receptor responder 2 gene DOID:10591 pre-eclampsia ISO RGD:1320450 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34398343 11906184 RARRES2 retinoic acid receptor responder 2 gene DOID:10603 glucose intolerance ISO RGD:1320450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22355640 11906184 RARRES2 retinoic acid receptor responder 2 gene DOID:10825 essential hypertension ISO RGD:1320450 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:24047472|REF_RGD_ID:15036820 11906184 RARRES2 retinoic acid receptor responder 2 gene DOID:11612 polycystic ovary syndrome treatment ISO RGD:1309874 D RGD:9068941 20200609 RGD PMID:24762064|REF_RGD_ID:15036823 11906184 RARRES2 retinoic acid receptor responder 2 gene DOID:2999 granulosa cell tumor ISO RGD:1320450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29653259 11906184 RARRES2 retinoic acid receptor responder 2 gene DOID:630 genetic disease ISO RGD:1320450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906184 RARRES2 retinoic acid receptor responder 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1309874 D RGD:9068941 20200609 RGD protein:increased expression:multiple: PMID:30873215|REF_RGD_ID:15036825 11906184 RARRES2 retinoic acid receptor responder 2 gene DOID:9970 obesity ISO RGD:1309874 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:30873215|PMID:31284705|REF_RGD_ID:15036824|REF_RGD_ID:15036825 11906194 SCNN1D sodium channel epithelial 1 subunit delta gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1346343 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11906194 SCNN1D sodium channel epithelial 1 subunit delta gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1346343 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11906194 SCNN1D sodium channel epithelial 1 subunit delta gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1346343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11906194 SCNN1D sodium channel epithelial 1 subunit delta gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1346343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11906194 SCNN1D sodium channel epithelial 1 subunit delta gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1346343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11906194 SCNN1D sodium channel epithelial 1 subunit delta gene DOID:0110994 Joubert syndrome 25 ISO RGD:1346343 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11906194 SCNN1D sodium channel epithelial 1 subunit delta gene DOID:0111934 immunodeficiency 38 ISO RGD:1346343 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11906194 SCNN1D sodium channel epithelial 1 subunit delta gene DOID:0111935 immunodeficiency 16 ISO RGD:1346343 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11906194 SCNN1D sodium channel epithelial 1 subunit delta gene DOID:630 genetic disease ISO RGD:1346343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906194 SCNN1D sodium channel epithelial 1 subunit delta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11906194 SCNN1D sodium channel epithelial 1 subunit delta gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1346343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11906194 SCNN1D sodium channel epithelial 1 subunit delta gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1346343 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11906215 DHRS3 dehydrogenase/reductase 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1313699 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11906215 DHRS3 dehydrogenase/reductase 3 gene DOID:630 genetic disease ISO RGD:1313699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906215 DHRS3 dehydrogenase/reductase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11906230 PRKAB2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:0060041 autism spectrum disorder ISO RGD:735943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 11906230 PRKAB2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:0060411 chromosome 1q21.1 deletion syndrome ISO RGD:735943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome 11906230 PRKAB2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:0060435 chromosome 1q21.1 duplication syndrome ISO RGD:735943 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome 11906230 PRKAB2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:735943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 11906230 PRKAB2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:1540 parathyroid carcinoma ISO RGD:735943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11906230 PRKAB2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:5419 schizophrenia ISO RGD:735943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11906230 PRKAB2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:630 genetic disease ISO RGD:735943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906230 PRKAB2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11906230 PRKAB2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11906242 DAPK2 death associated protein kinase 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1312311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28978663 11906242 DAPK2 death associated protein kinase 2 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1312311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11906242 DAPK2 death associated protein kinase 2 gene DOID:2717 Bloom syndrome ISO RGD:1312311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11906242 DAPK2 death associated protein kinase 2 gene DOID:630 genetic disease ISO RGD:1312311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906242 DAPK2 death associated protein kinase 2 gene DOID:9005369 Hepatomegaly ISO RGD:1312311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 11906242 DAPK2 death associated protein kinase 2 gene DOID:9256 colorectal cancer ISO RGD:1312311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1322140 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:17143282|PMID:17143285|PMID:17586837|PMID:19953625|PMID:20981092|PMID:23487764|PMID:24033266|PMID:25741868|PMID:28492532 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0050700 cardiomyopathy ISO RGD:1322140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:21340158|PMID:21387466|PMID:22585553|PMID:24033266|PMID:25741868|PMID:28492532 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0060260 ptosis ISO RGD:1322140 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ptosis PMID:17143285|PMID:17586837|PMID:20186801|PMID:21387466|PMID:22494877|PMID:23487764|PMID:24033266|PMID:24458522|PMID:25741868|PMID:28492532|PMID:29907801|PMID:30325180|PMID:30784236|PMID:31560489 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0060466 gingival fibromatosis ISO RGD:1322140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gingival fibromatosis PMID:25741868|PMID:28492532 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0060578 Noonan syndrome 1 ISO RGD:1322140 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:17143282|PMID:17143285|PMID:17586837|PMID:18651097|PMID:18854871|PMID:18925667|PMID:18925961|PMID:19020799|PMID:19352411|PMID:19953625|PMID:20186801|PMID:20305546|PMID:20673819|PMID:20683980|PMID:21274610|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:23321623|PMID:23487764|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24451042|PMID:24458522|PMID:24803665|PMID:24939586|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25862627|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26467025|PMID:26686981|PMID:26918529|PMID:27236105|PMID:27304678|PMID:28378436|PMID:28492532|PMID:29037749|PMID:29625050|PMID:29696744|PMID:29752777|PMID:29907801|PMID:30266093|PMID:30325180|PMID:30784236|PMID:31219622|PMID:31292302|PMID:31560489 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0060581 Noonan syndrome 3 ISO RGD:1322140 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Noonan syndrome 3 PMID:17143282|PMID:17143285|PMID:17586837|PMID:19020799|PMID:19352411|PMID:20186801|PMID:21274610|PMID:21387466|PMID:21784453|PMID:22190897|PMID:23321623|PMID:23487764|PMID:24033266|PMID:24037001|PMID:25337068|PMID:25741868|PMID:26214590|PMID:26686981|PMID:26918529|PMID:27236105|PMID:28378436|PMID:28492532|PMID:29037749|PMID:29907801|PMID:30266093|PMID:31292302 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0060582 Noonan syndrome 4 ISO RGD:1322140 D RGD:7240710 20180130 OMIM 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0060582 Noonan syndrome 4 ISO RGD:1322140 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Noonan syndrome 4 PMID:10675333|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23321623|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28884940|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29074966|PMID:29402968|PMID:29493581|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684|PMID:9536098 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1322140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:27763634|PMID:28492532 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080690 RASopathy ISO RGD:1322140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23452850|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26297936|PMID:26467025|PMID:26580448|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27763634|PMID:28166811|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29402968|PMID:29493581|PMID:29625050|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30266093|PMID:30417923|PMID:30784236|PMID:31219622|PMID:31573083|PMID:32603605|PMID:33318624|PMID:34008892|PMID:9536098 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080690 RASopathy ISO RGD:1322140 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: RASopathy PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23452850|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26297936|PMID:26467025|PMID:26580448|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29402968|PMID:29493581|PMID:29625050|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30266093|PMID:30417923|PMID:30784236|PMID:31219622|PMID:31292302|PMID:31573083|PMID:32603605|PMID:33318624|PMID:34008892|PMID:9536098 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080690 RASopathy ISO RGD:1322140 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10675333|PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22253195|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23452850|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26350204|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29402968|PMID:29493581|PMID:29554876|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684|PMID:9536098 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080690 RASopathy ISO RGD:1322140 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10675333|PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22253195|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23452850|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26350204|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29402968|PMID:29493581|PMID:29554876|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684|PMID:9536098 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080690 RASopathy ISO RGD:1322140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10675333|PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22253195|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23452850|PMID:23487764|PMID:23602711|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26350204|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28884940|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29074966|PMID:29402968|PMID:29493581|PMID:29554876|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684|PMID:9536098 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080690 RASopathy ISO RGD:1322140 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10675333|PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22253195|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23321623|PMID:23452850|PMID:23487764|PMID:23602711|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26350204|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28884940|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29074966|PMID:29402968|PMID:29493581|PMID:29554876|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684|PMID:9536098 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080690 RASopathy ISO RGD:1322140 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10675333|PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22253195|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23321623|PMID:23452850|PMID:23487764|PMID:23602711|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26350204|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28884940|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29074966|PMID:29146900|PMID:29402968|PMID:29493581|PMID:29554876|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684|PMID:9536098 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1322140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:24033266|PMID:27763634|PMID:28492532 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0110998 Joubert syndrome 3 ISO RGD:1322140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 3 PMID:21340158|PMID:21387466|PMID:22585553|PMID:24033266|PMID:25741868|PMID:28492532 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:10283 prostate cancer ISO RGD:1322140 D RGD:9068941 20200609 RGD PMID:19724911|REF_RGD_ID:13506813 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:1059 intellectual disability ISO RGD:1322140 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17586837|PMID:21387466|PMID:24939586|PMID:25741868|PMID:28492532 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1322140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:21340158|PMID:21387466|PMID:22585553|PMID:24033266|PMID:25741868|PMID:28492532 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1322140 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21340158|PMID:21387466|PMID:22585553|PMID:24033266|PMID:25741868|PMID:26350204|PMID:28492532|PMID:32603605 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:1682 congenital heart disease ISO RGD:1322140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:1882 atrial heart septal defect ISO RGD:1322140 D RGD:9068941 20221027 RGD associated with Noonan Syndrome;DNA:missense mutations:CDS:multiple (human) PMID:17143285|REF_RGD_ID:11063543 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:2316 brain ischemia ISO RGD:1310949 D RGD:9068941 20221027 RGD PMID:26442853|REF_RGD_ID:155630597 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:3490 Noonan syndrome ISO RGD:1322140 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:10675333|PMID:11333268|PMID:14551916|PMID:16267129|PMID:17143282|PMID:17143285|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23321623|PMID:23452850|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29074966|PMID:29402968|PMID:29493581|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29907801|PMID:30039904|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:31219622|PMID:31292302|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:3526 cerebral infarction ISO RGD:1322140 D RGD:9068941 20221020 RGD mRNA:increased expression:blood (human) PMID:35041140|REF_RGD_ID:155598600 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:363 uterine cancer ISO RGD:1322140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:26619011 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:3883 Lynch syndrome ISO RGD:1322140 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1322140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:26619011 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:4362 cervical cancer ISO RGD:1322140 D RGD:9068941 20200609 RGD mRNA:increased expression:cervix epithelium (human) PMID:27581326|REF_RGD_ID:13441596 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:630 genetic disease ISO RGD:1322140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17143282|PMID:17143285|PMID:17586837|PMID:19020799|PMID:19077116|PMID:19953625|PMID:20133692|PMID:20186801|PMID:20607846|PMID:20683980|PMID:21387466|PMID:21744363|PMID:21784453|PMID:22420426|PMID:22465605|PMID:23487764|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24803665|PMID:24896146|PMID:25741868|PMID:25862627|PMID:26280111|PMID:26918529|PMID:28492532|PMID:29493581|PMID:30784236|PMID:31292302|PMID:32333414|PMID:34008892|PMID:34163525 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:1322140 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:17143285|PMID:17586837|PMID:20186801|PMID:21387466|PMID:22494877|PMID:23487764|PMID:24033266|PMID:24458522|PMID:25741868|PMID:28492532|PMID:29907801|PMID:30325180|PMID:30784236|PMID:31560489 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9001891 Atrial Septal Defect, Secundum Type ISO RGD:1322141 D RGD:9068941 20221027 RGD DNA:missense mutation:CDS:p.E846K (mouse) PMID:21041952|REF_RGD_ID:11064696 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9002182 Cafe au lait Spots, Multiple ISO RGD:1322140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cafe au lait spots, multiple 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9003091 Noonan Like Syndrome ISO RGD:1322140 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: NOONAN SYNDROME WITH PIGMENTED VILLONODULAR SYNOVITIS PMID:10675333|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18772396|PMID:18854871|PMID:18925667|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19953625|PMID:20133692|PMID:20186801|PMID:20305546|PMID:20493809|PMID:20607846|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21784453|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:23487764|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:25073238|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26280111|PMID:26297936|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26918529|PMID:27153395|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28884940|PMID:28957739|PMID:28991257|PMID:29074966|PMID:29402968|PMID:29493581|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:33042901|PMID:33128510|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684|PMID:9536098 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9003145 Nuchal Bleb, Familial ISO RGD:1322140 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nuchal bleb, familial PMID:17143285|PMID:17586837|PMID:20186801|PMID:21387466|PMID:22494877|PMID:23487764|PMID:24033266|PMID:24458522|PMID:25741868|PMID:28492532|PMID:29907801|PMID:30325180|PMID:30784236|PMID:31560489 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9003873 Gingival Fibromatosis 1 ISO RGD:1322140 D RGD:7240710 20180130 OMIM 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9003873 Gingival Fibromatosis 1 ISO RGD:1322140 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Fibromatosis, gingival, 1 | ClinVar Annotator: match by term: Hereditary gingival fibromatosis, 1 PMID:10675333|PMID:11868160|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17576681|PMID:17586837|PMID:18651097|PMID:18678287|PMID:18854871|PMID:18925667|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19953625|PMID:20133692|PMID:20186801|PMID:20305546|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21784453|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:23321623|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26297936|PMID:26467025|PMID:26580448|PMID:26686981|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28884940|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29074966|PMID:29402968|PMID:29493581|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30762279|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32603605|PMID:33042901|PMID:33848766|PMID:34008892|PMID:9030684|PMID:9536098 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1322140 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:17586837|PMID:21387466|PMID:24939586|PMID:25741868|PMID:28492532 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1322140 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:19020799|PMID:19953625|PMID:21387466|PMID:21784453|PMID:23487764|PMID:23673306|PMID:24033266|PMID:24803665|PMID:25741868|PMID:25862627|PMID:26918529|PMID:28492532|PMID:29493581|PMID:31292302|PMID:32333414|PMID:34008892|PMID:34163525 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9007096 Stroke ISO RGD:1322140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stroke PMID:24033266|PMID:25741868|PMID:28492532 11906260 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9007661 Dwarfism ISO RGD:1322140 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Short stature PMID:17143285|PMID:17586837|PMID:20186801|PMID:21387466|PMID:22494877|PMID:23487764|PMID:24033266|PMID:24458522|PMID:25741868|PMID:28492532|PMID:29907801|PMID:30325180|PMID:30784236|PMID:31560489 11906295 AIFM2 apoptosis inducing factor mitochondria associated 2 gene DOID:630 genetic disease ISO RGD:1312709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906322 GTDC1 glycosyltransferase like domain containing 1 gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1354274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome PMID:12920073 11906322 GTDC1 glycosyltransferase like domain containing 1 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1354274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:21981781|PMID:23632792 11906322 GTDC1 glycosyltransferase like domain containing 1 gene DOID:2661 myoepithelioma ISO RGD:1354274 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11906322 GTDC1 glycosyltransferase like domain containing 1 gene DOID:630 genetic disease ISO RGD:1354274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906363 MOXD1 monooxygenase DBH like 1 gene DOID:630 genetic disease ISO RGD:1320700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906379 CABYR calcium binding tyrosine phosphorylation regulated gene DOID:1059 intellectual disability ISO RGD:1349000 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11906379 CABYR calcium binding tyrosine phosphorylation regulated gene DOID:12336 male infertility ISO RGD:1616750 D RGD:9068941 20220825 MouseDO 11906379 CABYR calcium binding tyrosine phosphorylation regulated gene DOID:630 genetic disease ISO RGD:1349000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906379 CABYR calcium binding tyrosine phosphorylation regulated gene DOID:9008443 Colorectal Neoplasms ISO RGD:1349000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 11906400 CYP4B1 cytochrome P450 family 4 subfamily B member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736540 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11906400 CYP4B1 cytochrome P450 family 4 subfamily B member 1 gene DOID:11054 urinary bladder cancer ISO RGD:736540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18713828 11906400 CYP4B1 cytochrome P450 family 4 subfamily B member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 11906400 CYP4B1 cytochrome P450 family 4 subfamily B member 1 gene DOID:630 genetic disease ISO RGD:736540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906421 ASTN2 astrotactin 2 gene DOID:0110133 Bardet-Biedl syndrome 11 ISO RGD:1314130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 11 PMID:10399877|PMID:11822024|PMID:15786463|PMID:15886712|PMID:16606853|PMID:17994549|PMID:19349376|PMID:21775502|PMID:22025579|PMID:22981120|PMID:23142638|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29921608|PMID:31624253|PMID:33296226|PMID:4269389 11906421 ASTN2 astrotactin 2 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1314130 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:23541687|PMID:25351777|PMID:25741868|PMID:28492532 11906421 ASTN2 astrotactin 2 gene DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H ISO RGD:1314130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sarcotubular myopathy PMID:10399877|PMID:11822024|PMID:15786463|PMID:15886712|PMID:17994549|PMID:19349376|PMID:21775502|PMID:22025579|PMID:22981120|PMID:23142638|PMID:23541687|PMID:24033266|PMID:25351777|PMID:25741868|PMID:26467025|PMID:27491411|PMID:28492532|PMID:29921608|PMID:30823891|PMID:31624253|PMID:32419263|PMID:32528171|PMID:33296226|PMID:4269389 11906421 ASTN2 astrotactin 2 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1314130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:24033266 11906421 ASTN2 astrotactin 2 gene DOID:12783 migraine without aura ISO RGD:1314130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22683712 11906421 ASTN2 astrotactin 2 gene DOID:12849 autistic disorder ISO RGD:1314130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11906421 ASTN2 astrotactin 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1314130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:10399877|PMID:11822024|PMID:15786463|PMID:15886712|PMID:16606853|PMID:17994549|PMID:19349376|PMID:21775502|PMID:22025579|PMID:22981120|PMID:23142638|PMID:23541687|PMID:24033266|PMID:25351777|PMID:25741868|PMID:26467025|PMID:27491411|PMID:28492532|PMID:28812413|PMID:29921608|PMID:30564623|PMID:30823891|PMID:31624253|PMID:32419263|PMID:32528171|PMID:33296226|PMID:4269389 11906421 ASTN2 astrotactin 2 gene DOID:423 myopathy ISO RGD:1314130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:10399877|PMID:11822024|PMID:15786463|PMID:15886712|PMID:17994549|PMID:19349376|PMID:21775502|PMID:22981120|PMID:23142638|PMID:25741868|PMID:28492532|PMID:4269389 11906421 ASTN2 astrotactin 2 gene DOID:5419 schizophrenia ISO RGD:1314130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11906421 ASTN2 astrotactin 2 gene DOID:630 genetic disease ISO RGD:1314130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 11906421 ASTN2 astrotactin 2 gene DOID:670 amphetamine abuse ISO RGD:1314130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11906421 ASTN2 astrotactin 2 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1314130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 11906484 WDR62 WD repeat domain 62 gene DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations ISO RGD:1315489 D RGD:7240710 20180130 OMIM 11906484 WDR62 WD repeat domain 62 gene DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations ISO RGD:1315489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | ClinVar Annotator: match by term: Microcephaly, cortical malformations, and intellectual disability | ClinVar Annotator: match by term: Primary Microcephaly 2 With or Without Cortical Malformations | ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 2 PMID:10573015|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20729831|PMID:20890278|PMID:20890279|PMID:21834044|PMID:21961505|PMID:22775483|PMID:23065275|PMID:24228726|PMID:25303973|PMID:25741868|PMID:26077850|PMID:26467025|PMID:28004384|PMID:28377545|PMID:28492532|PMID:28756000|PMID:31130284|PMID:33604570|PMID:3440221|PMID:34402213|PMID:9536098 11906484 WDR62 WD repeat domain 62 gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:1315489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive primary microcephaly PMID:20729831|PMID:21961505|PMID:23065275|PMID:24228726|PMID:25303973|PMID:25741868|PMID:28492532|PMID:28756000|PMID:31130284 11906484 WDR62 WD repeat domain 62 gene DOID:0080918 polymicrogyria ISO RGD:1315489 D RGD:9068941 20200609 RGD DNA:deletion mutations:exons:p.S696fsX4 (c.2083delA),p.Q918GfsX18 (c.2472_2473delAG)(human) PMID:21834044|REF_RGD_ID:11541050 11906484 WDR62 WD repeat domain 62 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1315489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23341463 11906484 WDR62 WD repeat domain 62 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1315489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11906484 WDR62 WD repeat domain 62 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1315489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11906484 WDR62 WD repeat domain 62 gene DOID:1059 intellectual disability ISO RGD:1315489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:18414213|PMID:25741868|PMID:27784895|PMID:28492532|PMID:30167849|PMID:9536098 11906484 WDR62 WD repeat domain 62 gene DOID:10907 microcephaly ISO RGD:1315489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive 11906484 WDR62 WD repeat domain 62 gene DOID:1826 epilepsy ISO RGD:1315489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 11906484 WDR62 WD repeat domain 62 gene DOID:630 genetic disease ISO RGD:1315489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:20729831|PMID:21961505|PMID:23065275|PMID:24228726|PMID:25303973|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28756000|PMID:31130284|PMID:33604570 11906484 WDR62 WD repeat domain 62 gene DOID:684 hepatocellular carcinoma ISO RGD:1315489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11906484 WDR62 WD repeat domain 62 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1315489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:18414213|PMID:25741868|PMID:28492532|PMID:33604570 11906484 WDR62 WD repeat domain 62 gene DOID:9006534 Nervous System Malformations ISO RGD:1315489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11906484 WDR62 WD repeat domain 62 gene DOID:9007661 Dwarfism ISO RGD:1553526 D RGD:9068941 20200609 RGD PMID:24875059|REF_RGD_ID:11541053 11906484 WDR62 WD repeat domain 62 gene DOID:9008086 Developmental Disabilities ISO RGD:1315489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11906530 PICALM phosphatidylinositol binding clathrin assembly protein gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:732553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 11906530 PICALM phosphatidylinositol binding clathrin assembly protein gene DOID:1059 intellectual disability ISO RGD:732553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11906530 PICALM phosphatidylinositol binding clathrin assembly protein gene DOID:10652 Alzheimer's disease ISO RGD:732553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19734902|PMID:21460841 11906530 PICALM phosphatidylinositol binding clathrin assembly protein gene DOID:630 genetic disease ISO RGD:732553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906530 PICALM phosphatidylinositol binding clathrin assembly protein gene DOID:9002775 Cognitive Dysfunction ISO RGD:732553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30503753 11906530 PICALM phosphatidylinositol binding clathrin assembly protein gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:732553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11906530 PICALM phosphatidylinositol binding clathrin assembly protein gene DOID:9119 acute myeloid leukemia ISO RGD:732553 D RGD:7240710 20180130 OMIM 11906530 PICALM phosphatidylinositol binding clathrin assembly protein gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:732553 D RGD:9068941 20200609 RGD DNA:inversion: :inv(11)(q14q23) PMID:12461747|REF_RGD_ID:1600760 11906585 S100A11 S100 calcium binding protein A11 gene DOID:0080600 COVID-19 ISO RGD:1323591 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 11906585 S100A11 S100 calcium binding protein A11 gene DOID:0111940 immunodeficiency 42 ISO RGD:1323591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11906585 S100A11 S100 calcium binding protein A11 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1323591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11906585 S100A11 S100 calcium binding protein A11 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1323591 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11906585 S100A11 S100 calcium binding protein A11 gene DOID:1540 parathyroid carcinoma ISO RGD:1323591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11906585 S100A11 S100 calcium binding protein A11 gene DOID:5812 MHC class II deficiency ISO RGD:1323591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11906585 S100A11 S100 calcium binding protein A11 gene DOID:630 genetic disease ISO RGD:1323591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906585 S100A11 S100 calcium binding protein A11 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11906585 S100A11 S100 calcium binding protein A11 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1323591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20388789 11906585 S100A11 S100 calcium binding protein A11 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1323591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11906585 S100A11 S100 calcium binding protein A11 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11906592 LSM7 LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1313330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 11906592 LSM7 LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:10579 leukodystrophy ISO RGD:1313330 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leukodystrophy 11906592 LSM7 LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:630 genetic disease ISO RGD:1313330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906592 LSM7 LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11906600 WFIKKN2 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 gene DOID:630 genetic disease ISO RGD:1346693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906609 FRMPD2 FERM and PDZ domain containing 2 gene DOID:11372 megacolon ISO RGD:1349524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11906609 FRMPD2 FERM and PDZ domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1349524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11906609 FRMPD2 FERM and PDZ domain containing 2 gene DOID:630 genetic disease ISO RGD:1349524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906610 RASAL3 RAS protein activator like 3 gene DOID:630 genetic disease ISO RGD:2302537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906610 RASAL3 RAS protein activator like 3 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:2302537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia 11906631 PPP1R8 protein phosphatase 1 regulatory subunit 8 gene DOID:630 genetic disease ISO RGD:1314810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906641 CALB1 calbindin 1 gene DOID:2741 bilirubin metabolic disorder ISO RGD:69340 D RGD:9068941 20200609 RGD PMID:12204357|REF_RGD_ID:633843 11906641 CALB1 calbindin 1 gene DOID:557 kidney disease ISO RGD:732083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258088|PMID:21865292 11906641 CALB1 calbindin 1 gene DOID:630 genetic disease ISO RGD:732083 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906656 LOC100985067 olfactory receptor 5D14 gene DOID:1059 intellectual disability ISO RGD:1350020 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11906656 LOC100985067 olfactory receptor 5D14 gene DOID:630 genetic disease ISO RGD:1350020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906657 C6H6orf118 chromosome 6 C6orf118 homolog gene DOID:630 genetic disease ISO RGD:1349789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906670 AP4M1 adaptor related protein complex 4 subunit mu 1 gene DOID:0110784 hereditary spastic paraplegia 33 ISO RGD:1321015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic tetraparesis PMID:28492532 11906670 AP4M1 adaptor related protein complex 4 subunit mu 1 gene DOID:0110802 hereditary spastic paraplegia 50 ISO RGD:1321015 D RGD:7240710 20180130 OMIM 11906670 AP4M1 adaptor related protein complex 4 subunit mu 1 gene DOID:0110802 hereditary spastic paraplegia 50 ISO RGD:1321015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AP-4 deficiency syndrome | ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 PMID:16199547|PMID:17576681|PMID:18414213|PMID:21937992|PMID:24700674|PMID:25326635|PMID:25496299|PMID:25558065|PMID:25741868|PMID:26077850|PMID:28464862|PMID:28492532|PMID:28832565|PMID:29096665|PMID:29302074|PMID:31230720|PMID:31359954|PMID:32979048|PMID:32989326|PMID:33813722|PMID:34087981|PMID:36371792|PMID:9536098 11906670 AP4M1 adaptor related protein complex 4 subunit mu 1 gene DOID:1059 intellectual disability ISO RGD:1321015 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome PMID:18414213|PMID:19481195|PMID:24700674|PMID:25326635|PMID:25496299|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32979048 11906670 AP4M1 adaptor related protein complex 4 subunit mu 1 gene DOID:1059 intellectual disability ISO RGD:1321015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:24700674|PMID:25326635|PMID:25496299|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32979048|PMID:33813722 11906670 AP4M1 adaptor related protein complex 4 subunit mu 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1321015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:16199547|PMID:17576681|PMID:18414213|PMID:24700674|PMID:25326635|PMID:25496299|PMID:25558065|PMID:25741868|PMID:28492532|PMID:28832565|PMID:32979048|PMID:9536098 11906670 AP4M1 adaptor related protein complex 4 subunit mu 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11906670 AP4M1 adaptor related protein complex 4 subunit mu 1 gene DOID:607 paraplegia ISO RGD:1321015 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21937992|PMID:24700674|PMID:25326635|PMID:25496299|PMID:25558065|PMID:25741868|PMID:26077850|PMID:28464862|PMID:28492532|PMID:29096665|PMID:29302074|PMID:31359954|PMID:32979048|PMID:32989326|PMID:36371792 11906670 AP4M1 adaptor related protein complex 4 subunit mu 1 gene DOID:630 genetic disease ISO RGD:1321015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11906670 AP4M1 adaptor related protein complex 4 subunit mu 1 gene DOID:9004446 Alazami-Yuan Syndrome ISO RGD:1321015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alazami-Yuan syndrome PMID:25741868|PMID:28492532 11906670 AP4M1 adaptor related protein complex 4 subunit mu 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1321015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11906670 AP4M1 adaptor related protein complex 4 subunit mu 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1321015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24700674|PMID:25558065|PMID:25741868|PMID:32979048 11906705 TBXA2R thromboxane A2 receptor gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:735834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481|PMID:20485159 11906705 TBXA2R thromboxane A2 receptor gene DOID:0080822 aspirin-induced respiratory disease susceptibility ISO RGD:735834 D RGD:9068941 20200609 RGD DNA:polymorphism: :795T>C (human) PMID:15898979|REF_RGD_ID:11059537 11906705 TBXA2R thromboxane A2 receptor gene DOID:1074 kidney failure treatment ISO RGD:3825 D RGD:9068941 20200609 RGD associated with Cholestasis; PMID:9893136|REF_RGD_ID:11059601 11906705 TBXA2R thromboxane A2 receptor gene DOID:11394 adult respiratory distress syndrome treatment ISO RGD:3825 D RGD:9068941 20200609 RGD PMID:1934328|REF_RGD_ID:11059533 11906705 TBXA2R thromboxane A2 receptor gene DOID:14115 toxic shock syndrome treatment ISO RGD:3825 D RGD:9068941 20200609 RGD PMID:7816742|REF_RGD_ID:11059599 11906705 TBXA2R thromboxane A2 receptor gene DOID:1588 thrombocytopenia ISO RGD:3825 D RGD:9068941 20200609 RGD PMID:2528013|REF_RGD_ID:11059527 11906705 TBXA2R thromboxane A2 receptor gene DOID:1588 thrombocytopenia ISO RGD:733229 D RGD:9068941 20200609 RGD PMID:2528013|REF_RGD_ID:11059527 11906705 TBXA2R thromboxane A2 receptor gene DOID:2213 hemorrhagic disease ISO RGD:735834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19828703 11906705 TBXA2R thromboxane A2 receptor gene DOID:2218 blood platelet disease ISO RGD:735834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19828703|PMID:7929844 11906705 TBXA2R thromboxane A2 receptor gene DOID:2218 blood platelet disease ISO RGD:735834 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.R60L(human) PMID:7929844|REF_RGD_ID:1578439 11906705 TBXA2R thromboxane A2 receptor gene DOID:2841 asthma ISO RGD:735834 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Asthma PMID:2955539|PMID:7929844|PMID:8428006|PMID:8613548 11906705 TBXA2R thromboxane A2 receptor gene DOID:2841 asthma severity ISO RGD:735834 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:924T>C(human) PMID:15805995|REF_RGD_ID:11059534 11906705 TBXA2R thromboxane A2 receptor gene DOID:2841 asthma susceptibility ISO RGD:735834 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:924T>C(human) PMID:12000493|REF_RGD_ID:11059535 11906705 TBXA2R thromboxane A2 receptor gene DOID:4483 rhinitis ISO RGD:735834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12167471 11906705 TBXA2R thromboxane A2 receptor gene DOID:630 genetic disease ISO RGD:735834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906705 TBXA2R thromboxane A2 receptor gene DOID:9003657 Perennial Allergic Rhinitis treatment ISO RGD:735834 D RGD:9068941 20200609 RGD PMID:15247523|REF_RGD_ID:11059532 11906705 TBXA2R thromboxane A2 receptor gene DOID:9003871 Venous Thrombosis treatment ISO RGD:3825 D RGD:9068941 20200609 RGD PMID:7848332|REF_RGD_ID:11059887 11906705 TBXA2R thromboxane A2 receptor gene DOID:9004283 Transplant Rejection ISO RGD:3825 D RGD:9068941 20200609 RGD PMID:7964472|REF_RGD_ID:11059606 11906705 TBXA2R thromboxane A2 receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11906705 TBXA2R thromboxane A2 receptor gene DOID:9005302 Platelet-Type Bleeding Disorder 13 ISO RGD:735834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Impaired thromboxane A2 agonist-induced platelet aggregation | ClinVar Annotator: match by term: Platelet-type bleeding disorder 13, susceptibility to PMID:19828703|PMID:22517902|PMID:25741868|PMID:28492532|PMID:2955539|PMID:31064749|PMID:7929844|PMID:8428006|PMID:8613548 11906705 TBXA2R thromboxane A2 receptor gene DOID:9005302 Platelet-Type Bleeding Disorder 13 susceptibility ISO RGD:735834 D RGD:7240710 20190502 OMIM 11906705 TBXA2R thromboxane A2 receptor gene DOID:9005749 Necrosis ISO RGD:735834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22206755 11906705 TBXA2R thromboxane A2 receptor gene DOID:9005930 Endotoxemia ISO RGD:3825 D RGD:9068941 20200609 RGD PMID:15647606|PMID:2580129|REF_RGD_ID:11059531|REF_RGD_ID:1601450 11906705 TBXA2R thromboxane A2 receptor gene DOID:9006263 Experimental Pancreatitis treatment ISO RGD:3825 D RGD:9068941 20200609 RGD PMID:11341608|REF_RGD_ID:11059600 11906705 TBXA2R thromboxane A2 receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22206755 11906705 TBXA2R thromboxane A2 receptor gene DOID:9477 pulmonary embolism ISO RGD:735834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7740511 11906705 TBXA2R thromboxane A2 receptor gene DOID:9498 pulmonary eosinophilia treatment ISO RGD:733229 D RGD:9068941 20200609 RGD PMID:22802632|REF_RGD_ID:11059529 11906705 TBXA2R thromboxane A2 receptor gene DOID:9970 obesity ISO RGD:733229 D RGD:9068941 20200609 RGD mRNA:increased expression:carotid artery PMID:12409963|REF_RGD_ID:1601447 11906713 TDRD1 tudor domain containing 1 gene DOID:630 genetic disease ISO RGD:1314584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906762 ZNF420 zinc finger protein 420 gene DOID:3007 breast ductal carcinoma ISO RGD:1349955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 11906762 ZNF420 zinc finger protein 420 gene DOID:630 genetic disease ISO RGD:1349955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906771 KANK3 KN motif and ankyrin repeat domains 3 gene DOID:0080490 mucolipidosis type IV ISO RGD:1602171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 11906771 KANK3 KN motif and ankyrin repeat domains 3 gene DOID:0080600 COVID-19 ISO RGD:1602171 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11906771 KANK3 KN motif and ankyrin repeat domains 3 gene DOID:12849 autistic disorder ISO RGD:1602171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11906771 KANK3 KN motif and ankyrin repeat domains 3 gene DOID:630 genetic disease ISO RGD:1602171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906783 CRACD capping protein inhibiting regulator of actin dynamics gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:2303430 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 11906783 CRACD capping protein inhibiting regulator of actin dynamics gene DOID:630 genetic disease ISO RGD:2303430 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906803 MS4A10 membrane spanning 4-domains A10 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1316696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11906803 MS4A10 membrane spanning 4-domains A10 gene DOID:1059 intellectual disability ISO RGD:1316696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11906803 MS4A10 membrane spanning 4-domains A10 gene DOID:630 genetic disease ISO RGD:1316696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906830 TBC1D17 TBC1 domain family member 17 gene DOID:630 genetic disease ISO RGD:1320164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906852 CCDC102B coiled-coil domain containing 102B gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1344849 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11906852 CCDC102B coiled-coil domain containing 102B gene DOID:11372 megacolon ISO RGD:1344849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11906852 CCDC102B coiled-coil domain containing 102B gene DOID:630 genetic disease ISO RGD:1344849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906852 CCDC102B coiled-coil domain containing 102B gene DOID:8445 intestinal volvulus ISO RGD:1344849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11906852 CCDC102B coiled-coil domain containing 102B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11906852 CCDC102B coiled-coil domain containing 102B gene DOID:9008419 Volvulus Of Midgut ISO RGD:1344849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11906908 NUTM1 NUT midline carcinoma family member 1 gene DOID:0110317 hypertrophic cardiomyopathy 11 ISO RGD:1605553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 PMID:18458017|PMID:27125413|PMID:28492532 11906908 NUTM1 NUT midline carcinoma family member 1 gene DOID:2717 Bloom syndrome ISO RGD:1605553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11906908 NUTM1 NUT midline carcinoma family member 1 gene DOID:630 genetic disease ISO RGD:1605553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906908 NUTM1 NUT midline carcinoma family member 1 gene DOID:9256 colorectal cancer ISO RGD:1605553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11906922 LHB luteinizing hormone subunit beta gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:69097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11906922 LHB luteinizing hormone subunit beta gene DOID:0090091 hypogonadotropic hypogonadism 23 with or without anosmia ISO RGD:69097 D RGD:7240710 20200701 OMIM 11906922 LHB luteinizing hormone subunit beta gene DOID:0090091 hypogonadotropic hypogonadism 23 with or without anosmia ISO RGD:69097 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 23 with or without anosmia PMID:11384661|PMID:12189497|PMID:12620433|PMID:15602022|PMID:1727547|PMID:17761593|PMID:19126631|PMID:19890128|PMID:22723313|PMID:25741868|PMID:28492532|PMID:429481|PMID:8979264|PMID:9457942|PMID:9694256 11906922 LHB luteinizing hormone subunit beta gene DOID:0111076 progressive familial heart block type IB ISO RGD:69097 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:28492532 11906922 LHB luteinizing hormone subunit beta gene DOID:10763 hypertension ISO RGD:69097 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 11906922 LHB luteinizing hormone subunit beta gene DOID:11612 polycystic ovary syndrome ISO RGD:69097 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:11889176|PMID:20378617 11906922 LHB luteinizing hormone subunit beta gene DOID:12336 male infertility ISO RGD:69097 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:10739843|PMID:15602022|PMID:387166 11906922 LHB luteinizing hormone subunit beta gene DOID:12700 hyperprolactinemia ISO RGD:69097 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:6770916 11906922 LHB luteinizing hormone subunit beta gene DOID:1574 alcohol use disorder ISO RGD:69097 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:8590623 11906922 LHB luteinizing hormone subunit beta gene DOID:1924 hypogonadism ISO RGD:69097 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15602022|PMID:1727547|PMID:18449926|PMID:8263139 11906922 LHB luteinizing hormone subunit beta gene DOID:2696 Leydig cell tumor ISO RGD:69097 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:25289773 11906922 LHB luteinizing hormone subunit beta gene DOID:2945 severe acute respiratory syndrome ISO RGD:69097 D RGD:9068941 20200702 RGD protein:increased expression:adenohypophysis (human) PMID:20651845|REF_RGD_ID:28711759 11906922 LHB luteinizing hormone subunit beta gene DOID:630 genetic disease ISO RGD:69097 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11906922 LHB luteinizing hormone subunit beta gene DOID:9001239 Delayed Puberty ISO RGD:69097 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:15602022 11906922 LHB luteinizing hormone subunit beta gene DOID:9001310 Tobacco Use Disorder ISO RGD:69097 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:12893845 11906922 LHB luteinizing hormone subunit beta gene DOID:9002395 Hypothermia ISO RGD:69097 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 11906922 LHB luteinizing hormone subunit beta gene DOID:9002554 Tachycardia ISO RGD:69097 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 11906922 LHB luteinizing hormone subunit beta gene DOID:9005632 Cocaine-Related Disorders ISO RGD:69097 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:12893845 11906922 LHB luteinizing hormone subunit beta gene DOID:9007001 Bradycardia ISO RGD:69097 D RGD:9068941 20200702 CTD CTD Direct Evidence: therapeutic PMID:6350720 11906922 LHB luteinizing hormone subunit beta gene DOID:9007284 Precocious Puberty ISO RGD:69097 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:18345393 11906922 LHB luteinizing hormone subunit beta gene DOID:9007456 Female Infertility ISO RGD:69097 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:9457942 11906994 CHAF1A chromatin assembly factor 1 subunit A gene DOID:13938 amenorrhea ISO RGD:1353205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11906994 CHAF1A chromatin assembly factor 1 subunit A gene DOID:219 colon cancer ISO RGD:1353205 D RGD:9068941 20200609 RGD PMID:24845563|REF_RGD_ID:9587457 11906994 CHAF1A chromatin assembly factor 1 subunit A gene DOID:219 colon cancer disease_progression ISO RGD:1353205 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:colonic mucosa: PMID:24845563|REF_RGD_ID:9587457 11906994 CHAF1A chromatin assembly factor 1 subunit A gene DOID:3070 high grade glioma susceptibility ISO RGD:1353205 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs243356(human) PMID:18048407|REF_RGD_ID:9587459 11906994 CHAF1A chromatin assembly factor 1 subunit A gene DOID:403 mouth disease ISO RGD:1353205 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 11906994 CHAF1A chromatin assembly factor 1 subunit A gene DOID:630 genetic disease ISO RGD:1353205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11906994 CHAF1A chromatin assembly factor 1 subunit A gene DOID:769 neuroblastoma ISO RGD:1353205 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:24335960|REF_RGD_ID:9587458 11906994 CHAF1A chromatin assembly factor 1 subunit A gene DOID:769 neuroblastoma disease_progression ISO RGD:1353205 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:24335960|REF_RGD_ID:9587458 11906994 CHAF1A chromatin assembly factor 1 subunit A gene DOID:9074 systemic lupus erythematosus ISO RGD:1353205 D RGD:9068941 20200609 RGD PMID:24836587|REF_RGD_ID:9587742 11907023 DHX16 DEAH-box helicase 16 gene DOID:1059 intellectual disability ISO RGD:1344132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31256877 11907023 DHX16 DEAH-box helicase 16 gene DOID:11372 megacolon ISO RGD:1344132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11907023 DHX16 DEAH-box helicase 16 gene DOID:1826 epilepsy ISO RGD:1344132 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:31256877 11907023 DHX16 DEAH-box helicase 16 gene DOID:630 genetic disease ISO RGD:1344132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11907023 DHX16 DEAH-box helicase 16 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1344132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:31256877 11907023 DHX16 DEAH-box helicase 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorders PMID:31256877 11907023 DHX16 DEAH-box helicase 16 gene DOID:9004696 Neuromuscular Oculoauditory Syndrome ISO RGD:1344132 D RGD:7240710 20200226 OMIM 11907023 DHX16 DEAH-box helicase 16 gene DOID:9004696 Neuromuscular Oculoauditory Syndrome ISO RGD:1344132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuromuscular disease and ocular or auditory anomalies with or without seizures PMID:25741868|PMID:31256877 11907047 ARR3 arrestin 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11907047 ARR3 arrestin 3 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1350252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459|PMID:28492532 11907047 ARR3 arrestin 3 gene DOID:12849 autistic disorder ISO RGD:1350252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11907047 ARR3 arrestin 3 gene DOID:1826 epilepsy ISO RGD:1350252 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11907047 ARR3 arrestin 3 gene DOID:630 genetic disease ISO RGD:1350252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907047 ARR3 arrestin 3 gene DOID:9009093 Myopia 26, X-Linked, Female-Limited ISO RGD:1350252 D RGD:7240710 20190315 OMIM 11907047 ARR3 arrestin 3 gene DOID:9009093 Myopia 26, X-Linked, Female-Limited ISO RGD:1350252 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Myopia 26, X-linked, female-limited PMID:27829781|PMID:33482870 11907070 PHF6 PHD finger protein 6 gene DOID:0050681 Borjeson-Forssman-Lehmann syndrome ISO RGD:1354174 D RGD:7240710 20180130 OMIM 11907070 PHF6 PHD finger protein 6 gene DOID:0050681 Borjeson-Forssman-Lehmann syndrome ISO RGD:1354174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome PMID:12415272|PMID:13871358|PMID:15241480|PMID:15466013|PMID:15994862|PMID:18414213|PMID:23906836|PMID:24092917|PMID:24728327|PMID:25099957|PMID:25741868|PMID:25741869|PMID:26648834|PMID:27633282|PMID:28492532|PMID:28539120|PMID:28554332|PMID:30630810 11907070 PHF6 PHD finger protein 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11907070 PHF6 PHD finger protein 6 gene DOID:0080199 colorectal carcinoma ISO RGD:1354174 D RGD:9068941 20220929 RGD mRNA:increased expression:colorectal mucosa (human) PMID:28675510|REF_RGD_ID:150524297 11907070 PHF6 PHD finger protein 6 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1354174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:12415272|PMID:15994862|PMID:25741868|PMID:25741869|PMID:28492532 11907070 PHF6 PHD finger protein 6 gene DOID:0112127 HRPT-related hyperuricemia ISO RGD:1354174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency PMID:11018746|PMID:15571220|PMID:17027311|PMID:22157001|PMID:23975452|PMID:28492532|PMID:6087154 11907070 PHF6 PHD finger protein 6 gene DOID:1059 intellectual disability ISO RGD:1354174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11907070 PHF6 PHD finger protein 6 gene DOID:12849 autistic disorder ISO RGD:1354174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11907070 PHF6 PHD finger protein 6 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1354174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228800 11907070 PHF6 PHD finger protein 6 gene DOID:6000 congestive heart failure disease_progression ISO RGD:1354174 D RGD:9068941 20221027 RGD DNA:mutations: : PMID:33779075|REF_RGD_ID:155630627 11907070 PHF6 PHD finger protein 6 gene DOID:630 genetic disease ISO RGD:1354174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12415272|PMID:18414213|PMID:24092917|PMID:25099957|PMID:25741868|PMID:26648834|PMID:28492532|PMID:28539120|PMID:30630810 11907070 PHF6 PHD finger protein 6 gene DOID:684 hepatocellular carcinoma ISO RGD:1354174 D RGD:9068941 20220929 RGD mRNA:increased expression:liver (human) PMID:31329335|REF_RGD_ID:155260288 11907070 PHF6 PHD finger protein 6 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1354174 D RGD:9068941 20220929 RGD mRNA:increased expression:liver (human) PMID:30888215|REF_RGD_ID:155260308 11907070 PHF6 PHD finger protein 6 gene DOID:769 neuroblastoma ISO RGD:1354174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26822237 11907070 PHF6 PHD finger protein 6 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1354174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25741868 11907070 PHF6 PHD finger protein 6 gene DOID:9004507 Hirsutism ISO RGD:1354174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirsutism 11907070 PHF6 PHD finger protein 6 gene DOID:9008086 Developmental Disabilities ISO RGD:1354174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11907070 PHF6 PHD finger protein 6 gene DOID:9119 acute myeloid leukemia severity ISO RGD:1354174 D RGD:9068941 20220929 RGD DNA:mutations:multiple (human) PMID:31186809|REF_RGD_ID:155260286 11907092 SOWAHB sosondowah ankyrin repeat domain family member B gene DOID:630 genetic disease ISO RGD:1605533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907092 SOWAHB sosondowah ankyrin repeat domain family member B gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1605533 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11907100 GTF2F2 general transcription factor IIF subunit 2 gene DOID:630 genetic disease ISO RGD:733447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907112 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:0070224 progressive familial intrahepatic cholestasis 4 ISO RGD:736706 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 4 PMID:25741868 11907112 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:0080322 polycystic kidney disease ISO RGD:736706 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type PMID:10200984|PMID:10364515|PMID:10577909|PMID:10612835|PMID:10655152|PMID:10729710|PMID:10854095|PMID:10862097|PMID:10923038|PMID:10987650|PMID:11012875|PMID:11058904|PMID:11115377|PMID:11216660|PMID:11316854|PMID:11558899|PMID:11840199|PMID:11857740|PMID:11967008|PMID:12007219|PMID:12070253|PMID:12220456|PMID:12482949|PMID:12633844|PMID:12842373|PMID:15018634|PMID:15772804|PMID:15775720|PMID:15780078|PMID:16049073|PMID:16430766|PMID:1740684|PMID:17574468|PMID:17582161|PMID:18077784|PMID:18257781|PMID:18350644|PMID:18381613|PMID:18640754|PMID:18791038|PMID:18837007|PMID:19158373|PMID:19165178|PMID:19515475|PMID:19686598|PMID:19759016|PMID:20301424|PMID:20558538|PMID:20837139|PMID:20950398|PMID:20981092|PMID:21115670|PMID:21314639|PMID:21551026|PMID:21694639|PMID:21706482|PMID:21744088|PMID:22008521|PMID:22034641|PMID:22090377|PMID:22185115|PMID:22333914|PMID:22383692|PMID:22406737|PMID:22508176|PMID:22608885|PMID:22995991|PMID:23064367|PMID:23266634|PMID:23300259|PMID:23431072|PMID:23496908|PMID:23624871|PMID:23760289|PMID:23985799|PMID:24033266|PMID:24374109|PMID:24575920|PMID:24582653|PMID:24611717|PMID:24641620|PMID:24694054|PMID:24907393|PMID:25029430|PMID:25263802|PMID:25333066|PMID:25475747|PMID:25525159|PMID:25531466|PMID:25574838|PMID:25646624|PMID:25741868|PMID:25741892|PMID:25741893|PMID:25741900|PMID:25741910|PMID:25757501|PMID:25920554|PMID:26139440|PMID:26150605|PMID:26200945|PMID:26274329|PMID:26453610|PMID:26467025|PMID:26489027|PMID:26632257|PMID:26661679|PMID:26718059|PMID:26795593|PMID:26823553|PMID:26938784|PMID:26940125|PMID:26950445|PMID:27165007|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27577987|PMID:27753196|PMID:27782177|PMID:27835667|PMID:27843768|PMID:27884173|PMID:27894351|PMID:28378423|PMID:29038287|PMID:29270497|PMID:29326913|PMID:29338003|PMID:29529603|PMID:29590654|PMID:29606500|PMID:29633482|PMID:29687770|PMID:29801666|PMID:29860066|PMID:30042192|PMID:30093605|PMID:30293987|PMID:30333007|PMID:30526451|PMID:30586318|PMID:30647506|PMID:30816285|PMID:30820006|PMID:30847201|PMID:30927425|PMID:30989420|PMID:31027891|PMID:31056860|PMID:31079206|PMID:31157564|PMID:31160911|PMID:31317121|PMID:31514750|PMID:31730820|PMID:31738409|PMID:31740684|PMID:31807928|PMID:31844813|PMID:32176464|PMID:32203225|PMID:32358097|PMID:32381729|PMID:32398770|PMID:32457805|PMID:32939031|PMID:33111320|PMID:33168999|PMID:33226606|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33555573|PMID:33602752|PMID:33639313|PMID:33964006|PMID:34008892|PMID:34486251|PMID:34906502|PMID:35368817|PMID:7581371|PMID:8004675|PMID:8554072|PMID:8792818|PMID:8845849|PMID:8911610|PMID:9044320|PMID:9192675|PMID:9199561|PMID:9285784|PMID:9345095|PMID:9452060|PMID:9521593|PMID:9668165 11907112 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736706 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:11112665|PMID:15024740|PMID:15874888|PMID:16114042|PMID:17287951|PMID:17304050|PMID:21309039|PMID:21520333|PMID:22903760|PMID:24789117|PMID:25741868|PMID:27406250|PMID:28492532|PMID:29432982|PMID:9829910 11907112 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:736706 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 11907112 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736706 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11907112 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:0110858 polycystic kidney disease 1 ISO RGD:736706 D RGD:7240710 20230505 OMIM 11907112 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:0110858 polycystic kidney disease 1 ISO RGD:736706 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 1 PMID:10364515|PMID:10854095|PMID:11115377|PMID:12482949|PMID:15772804|PMID:16430766|PMID:17574468|PMID:17582161|PMID:21115670|PMID:22090377|PMID:22383692|PMID:22508176|PMID:23064367|PMID:23431072|PMID:23760289|PMID:24374109|PMID:24694054|PMID:25333066|PMID:25646624|PMID:25741868|PMID:26139440|PMID:26467025|PMID:26632257|PMID:26661679|PMID:26950445|PMID:27499327|PMID:27835667|PMID:29801666|PMID:30333007|PMID:31056860|PMID:31738409|PMID:32203225|PMID:32381729|PMID:33532864 11907112 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:0110860 polycystic kidney disease 3 ISO RGD:736706 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 3 PMID:10364515|PMID:10854095|PMID:15772804|PMID:17582161|PMID:21115670|PMID:21694639|PMID:22090377|PMID:22383692|PMID:22508176|PMID:23431072|PMID:24374109|PMID:25333066|PMID:25646624|PMID:25741868|PMID:26139440|PMID:26467025|PMID:26489027|PMID:26632257|PMID:26661679|PMID:27499327|PMID:27835667|PMID:30333007|PMID:30847201|PMID:31317121|PMID:31730820|PMID:31740684|PMID:33532864 11907112 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:736706 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:25741868|PMID:26467025|PMID:29100090 11907112 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:1074 kidney failure ISO RGD:736706 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Renal failure 11907112 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:10763 hypertension ISO RGD:736706 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Hypertension PMID:11115377|PMID:12482949|PMID:16430766|PMID:17574468|PMID:17582161|PMID:22508176|PMID:23064367|PMID:23431072|PMID:23760289|PMID:24694054|PMID:25333066|PMID:25741868|PMID:26467025|PMID:26632257|PMID:26950445|PMID:27499327|PMID:29801666|PMID:30333007|PMID:31056860|PMID:31738409|PMID:32203225|PMID:32381729|PMID:33532864 11907112 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:10941 intracranial aneurysm susceptibility ISO RGD:736706 D RGD:9068941 20230427 RGD DNA:mutations:multiple (human) PMID:12842373|REF_RGD_ID:1580867 11907112 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:11836 clubfoot ISO RGD:736706 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:25741868 11907112 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:12215 oligohydramnios ISO RGD:736706 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: anhydramnios PMID:25741868|PMID:35005812 11907112 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:13515 tuberous sclerosis ISO RGD:736706 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis syndrome 11907112 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:1826 epilepsy ISO RGD:736706 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 11907112 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736706 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11907112 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:2871 endometrial carcinoma ISO RGD:736706 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 11907112 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:2975 cystic kidney disease ISO RGD:736706 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Renal cyst PMID:11115377|PMID:11967008|PMID:19515475|PMID:22508176|PMID:25741868|PMID:26467025 11907112 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:3319 lymphangioleiomyomatosis ISO RGD:736706 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Lymphangiomyomatosis PMID:25741868 11907112 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:4606 bile duct cancer ISO RGD:736706 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Bile duct cancer PMID:12007219|PMID:16430766|PMID:17574468|PMID:25741868|PMID:26467025|PMID:27782177 11907112 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:519 aortitis ISO RGD:736706 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Large vessel vasculitis 11907112 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:576 proteinuria ISO RGD:736706 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:25741868 11907112 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:630 genetic disease ISO RGD:736706 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11012875|PMID:11115377|PMID:11857740|PMID:12842373|PMID:1740684|PMID:17574468|PMID:17582161|PMID:19165178|PMID:20950398|PMID:22383692|PMID:22508176|PMID:23300259|PMID:23431072|PMID:23985799|PMID:24374109|PMID:24582653|PMID:24641620|PMID:24694054|PMID:24907393|PMID:25491204|PMID:25646624|PMID:25741868|PMID:25920554|PMID:26139440|PMID:26150605|PMID:26274329|PMID:26453610|PMID:26467025|PMID:26632257|PMID:26795593|PMID:27165007|PMID:27499327|PMID:28378423|PMID:29801666|PMID:30333007|PMID:30989420|PMID:31027891|PMID:31056860|PMID:31514750|PMID:31740684|PMID:31807928|PMID:31844813|PMID:32398770|PMID:32457805|PMID:33226606|PMID:33532864|PMID:33639313|PMID:9345095 11907112 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:783 end stage renal disease ISO RGD:736706 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Stage 5 chronic kidney disease PMID:25741868 11907112 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:784 chronic kidney disease ISO RGD:736706 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868 11907112 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736706 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:10200984|PMID:10364515|PMID:10854095|PMID:10987650|PMID:11058904|PMID:11115377|PMID:11216660|PMID:11840199|PMID:11857740|PMID:11967008|PMID:12070253|PMID:12482949|PMID:15772804|PMID:16430766|PMID:17574468|PMID:17582161|PMID:18077784|PMID:18640754|PMID:18791038|PMID:18837007|PMID:19165178|PMID:19515475|PMID:20301424|PMID:20558538|PMID:20981092|PMID:21115670|PMID:22008521|PMID:22090377|PMID:22333914|PMID:22383692|PMID:22508176|PMID:22608885|PMID:23064367|PMID:23266634|PMID:23300259|PMID:23431072|PMID:23760289|PMID:23985799|PMID:24033266|PMID:24374109|PMID:24694054|PMID:25029430|PMID:25333066|PMID:25646624|PMID:25741868|PMID:26139440|PMID:26453610|PMID:26467025|PMID:26632257|PMID:26661679|PMID:26823553|PMID:26950445|PMID:27165007|PMID:27499327|PMID:27567292|PMID:27782177|PMID:27835667|PMID:27884173|PMID:27894351|PMID:28378423|PMID:29270497|PMID:29650765|PMID:29801666|PMID:30333007|PMID:31056860|PMID:31157564|PMID:31738409|PMID:31740684|PMID:32203225|PMID:32381729|PMID:32457805|PMID:33168999|PMID:33532864|PMID:9285784|PMID:9521593 11907112 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:736706 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Polycystic liver disease 1 PMID:17582161|PMID:21744088|PMID:22185115|PMID:25263802|PMID:25333066|PMID:25741868|PMID:26467025|PMID:31844813|PMID:33532864|PMID:9668165 11907112 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:736706 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 11907112 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:9006205 Animal Disease Models ISO RGD:736706 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:25877301 11907112 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:9006554 Pancreatic Cyst ISO RGD:736706 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Pancreatic cysts PMID:25741868 11907112 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:9007583 Cysts ISO RGD:736706 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:21685914 11907112 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:9256 colorectal cancer ISO RGD:736706 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:25741868 11907117 BRD3 bromodomain containing 3 gene DOID:0050902 medulloblastoma ISO RGD:1318974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24231268 11907117 BRD3 bromodomain containing 3 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1318974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 11907117 BRD3 bromodomain containing 3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1318974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11907117 BRD3 bromodomain containing 3 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1318974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11907117 BRD3 bromodomain containing 3 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1318974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11907117 BRD3 bromodomain containing 3 gene DOID:0081097 Rafiq syndrome ISO RGD:1318974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11907117 BRD3 bromodomain containing 3 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1318974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11907117 BRD3 bromodomain containing 3 gene DOID:3652 Leigh disease ISO RGD:1318974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11907117 BRD3 bromodomain containing 3 gene DOID:5426 primary ovarian insufficiency ISO RGD:1318974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11907117 BRD3 bromodomain containing 3 gene DOID:630 genetic disease ISO RGD:1318974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907136 EBF1 EBF transcription factor 1 gene DOID:0050873 follicular lymphoma ISO RGD:1349579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 11907136 EBF1 EBF transcription factor 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1349579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 11907136 EBF1 EBF transcription factor 1 gene DOID:630 genetic disease ISO RGD:1349579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907136 EBF1 EBF transcription factor 1 gene DOID:811 lipodystrophy ISO RGD:732633 D RGD:9068941 20220825 MouseDO OMIM:608709 11907136 EBF1 EBF transcription factor 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1349579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 11907160 KCTD12 potassium channel tetramerization domain containing 12 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1319755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11907160 KCTD12 potassium channel tetramerization domain containing 12 gene DOID:630 genetic disease ISO RGD:1319755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907186 ETS2 ETS proto-oncogene 2, transcription factor gene DOID:3042 allergic contact dermatitis ISO RGD:1352353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 11907186 ETS2 ETS proto-oncogene 2, transcription factor gene DOID:630 genetic disease ISO RGD:1352353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907186 ETS2 ETS proto-oncogene 2, transcription factor gene DOID:9002955 Nerve Degeneration ISO RGD:1352353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19522546 11907186 ETS2 ETS proto-oncogene 2, transcription factor gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1352353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19764029 11907186 ETS2 ETS proto-oncogene 2, transcription factor gene DOID:9008939 Breast Neoplasms ISO RGD:1352353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 11907200 MRPS7 mitochondrial ribosomal protein S7 gene DOID:0111497 combined oxidative phosphorylation deficiency 34 ISO RGD:1319351 D RGD:7240710 20190315 OMIM 11907200 MRPS7 mitochondrial ribosomal protein S7 gene DOID:0111497 combined oxidative phosphorylation deficiency 34 ISO RGD:1319351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 34 PMID:25556185|PMID:25741868|PMID:28492532|PMID:9063420 11907200 MRPS7 mitochondrial ribosomal protein S7 gene DOID:10003 sensorineural hearing loss ISO RGD:1319351 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868|PMID:28492532 11907200 MRPS7 mitochondrial ribosomal protein S7 gene DOID:630 genetic disease ISO RGD:1319351 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11907200 MRPS7 mitochondrial ribosomal protein S7 gene DOID:9008939 Breast Neoplasms ISO RGD:1319351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 11907209 SYNJ1 synaptojanin 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:69491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11907209 SYNJ1 synaptojanin 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:69491 D RGD:7240710 20180130 OMIM 11907209 SYNJ1 synaptojanin 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:69491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:11413010|PMID:16199547|PMID:17576681|PMID:23804563|PMID:23804577|PMID:24609975|PMID:24816432|PMID:25316601|PMID:25741868|PMID:26046367|PMID:26467025|PMID:27393345|PMID:27435091|PMID:27496670|PMID:27869329|PMID:28135719|PMID:28421333|PMID:28492532|PMID:29163333|PMID:32707456|PMID:9536098 11907209 SYNJ1 synaptojanin 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:69491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11907209 SYNJ1 synaptojanin 1 gene DOID:0080464 developmental and epileptic encephalopathy 53 ISO RGD:69491 D RGD:7240710 20190315 OMIM 11907209 SYNJ1 synaptojanin 1 gene DOID:0080464 developmental and epileptic encephalopathy 53 ISO RGD:69491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 53 PMID:25741868|PMID:26467025|PMID:27435091|PMID:28492532|PMID:32214227 11907209 SYNJ1 synaptojanin 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:69491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868|PMID:28492532 11907209 SYNJ1 synaptojanin 1 gene DOID:14330 Parkinson's disease ISO RGD:69491 D RGD:9068941 20200609 RGD PMID:25639775|REF_RGD_ID:10450521 11907209 SYNJ1 synaptojanin 1 gene DOID:630 genetic disease ISO RGD:69491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11413010|PMID:25741868|PMID:26467025|PMID:27435091|PMID:28421333|PMID:28492532 11907209 SYNJ1 synaptojanin 1 gene DOID:9005698 ZTTK Syndrome ISO RGD:69491 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 11907261 LRCH1 leucine rich repeats and calponin homology domain containing 1 gene DOID:2377 multiple sclerosis ISO RGD:1558043 D RGD:9068941 20220825 MouseDO OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810 11907261 LRCH1 leucine rich repeats and calponin homology domain containing 1 gene DOID:630 genetic disease ISO RGD:1313845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907261 LRCH1 leucine rich repeats and calponin homology domain containing 1 gene DOID:9007096 Stroke ISO RGD:1313845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 11907294 PEX5L peroxisomal biogenesis factor 5 like gene DOID:0111546 Currarino syndrome ISO RGD:1345397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11907294 PEX5L peroxisomal biogenesis factor 5 like gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1345397 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 11907294 PEX5L peroxisomal biogenesis factor 5 like gene DOID:630 genetic disease ISO RGD:1345397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907360 LRRC73 leucine rich repeat containing 73 gene DOID:0050444 infantile Refsum disease ISO RGD:1346466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11907360 LRRC73 leucine rich repeat containing 73 gene DOID:630 genetic disease ISO RGD:1346466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907360 LRRC73 leucine rich repeat containing 73 gene DOID:905 Zellweger syndrome ISO RGD:1346466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11907370 LOC100971251 olfactory receptor 5AC2 gene DOID:10283 prostate cancer ISO RGD:1349503 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11907370 LOC100971251 olfactory receptor 5AC2 gene DOID:630 genetic disease ISO RGD:1349503 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907373 PTCH2 patched 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11907373 PTCH2 patched 2 gene DOID:0050902 medulloblastoma ISO RGD:1604843 D RGD:7240710 20180130 OMIM 11907373 PTCH2 patched 2 gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1604843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:28492532 11907373 PTCH2 patched 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1604843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11907373 PTCH2 patched 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11907373 PTCH2 patched 2 gene DOID:13501 Moebius syndrome ISO RGD:1604843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum PMID:28492532|PMID:28915250 11907373 PTCH2 patched 2 gene DOID:2120 focal dermal hypoplasia ISO RGD:1604843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gorlin-Goltz Syndrome PMID:28492532 11907373 PTCH2 patched 2 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1604843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome PMID:16199547|PMID:17576681|PMID:18285427|PMID:23951062|PMID:25260786|PMID:25741868|PMID:28492532|PMID:28915250|PMID:31945512|PMID:32864857|PMID:33077954|PMID:9536098 11907373 PTCH2 patched 2 gene DOID:2513 basal cell carcinoma ISO RGD:1604843 D RGD:7240710 20230505 OMIM 11907373 PTCH2 patched 2 gene DOID:2513 basal cell carcinoma ISO RGD:1604843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 PMID:25741868|PMID:28492532|PMID:31945512|PMID:9931336 11907373 PTCH2 patched 2 gene DOID:630 genetic disease ISO RGD:1604843 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11907373 PTCH2 patched 2 gene DOID:9005987 Basal Cell Nevus Syndrome 1 ISO RGD:1604843 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: BASAL CELL NEVUS SYNDROME 1 PMID:28492532 11907373 PTCH2 patched 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11907399 KCNK1 potassium two pore domain channel subfamily K member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:731790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11907399 KCNK1 potassium two pore domain channel subfamily K member 1 gene DOID:630 genetic disease ISO RGD:731790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907399 KCNK1 potassium two pore domain channel subfamily K member 1 gene DOID:9002221 Hyperplasia ISO RGD:731790 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23291559 11907399 KCNK1 potassium two pore domain channel subfamily K member 1 gene DOID:9008681 Deafness ISO RGD:621447 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain, neuron PMID:17884299|REF_RGD_ID:2316516 11907399 KCNK1 potassium two pore domain channel subfamily K member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11907406 MLLT11 MLLT11 transcription factor 7 cofactor gene DOID:0111940 immunodeficiency 42 ISO RGD:1605692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11907406 MLLT11 MLLT11 transcription factor 7 cofactor gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11907406 MLLT11 MLLT11 transcription factor 7 cofactor gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11907406 MLLT11 MLLT11 transcription factor 7 cofactor gene DOID:1540 parathyroid carcinoma ISO RGD:1605692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11907406 MLLT11 MLLT11 transcription factor 7 cofactor gene DOID:5812 MHC class II deficiency ISO RGD:1605692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11907406 MLLT11 MLLT11 transcription factor 7 cofactor gene DOID:630 genetic disease ISO RGD:1605692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907406 MLLT11 MLLT11 transcription factor 7 cofactor gene DOID:8584 Burkitt lymphoma ISO RGD:1605692 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:31587870 11907406 MLLT11 MLLT11 transcription factor 7 cofactor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11907413 ACOT4 acyl-CoA thioesterase 4 gene DOID:1059 intellectual disability ISO RGD:1605006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild 11907413 ACOT4 acyl-CoA thioesterase 4 gene DOID:630 genetic disease ISO RGD:1605006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907424 KIF12 kinesin family member 12 gene DOID:10283 prostate cancer ISO RGD:1318282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11907424 KIF12 kinesin family member 12 gene DOID:630 genetic disease ISO RGD:1318282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907424 KIF12 kinesin family member 12 gene DOID:9002626 Progressive Familial Intrahepatic Cholestasis 8 ISO RGD:1318282 D RGD:7240710 20211222 OMIM 11907424 KIF12 kinesin family member 12 gene DOID:9002626 Progressive Familial Intrahepatic Cholestasis 8 ISO RGD:1318282 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 8 PMID:25741868|PMID:30250217|PMID:30976738|PMID:34555379 11907451 ADRA2B adrenoceptor alpha 2B gene DOID:0111692 familial adult myoclonic epilepsy 2 ISO RGD:731080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2 PMID:25741868 11907451 ADRA2B adrenoceptor alpha 2B gene DOID:1059 intellectual disability ISO RGD:731080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11907451 ADRA2B adrenoceptor alpha 2B gene DOID:10763 hypertension ISO RGD:2057 D RGD:9068941 20200609 RGD PMID:17070424|REF_RGD_ID:2313548 11907451 ADRA2B adrenoceptor alpha 2B gene DOID:10763 hypertension ISO RGD:731080 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:18953403|REF_RGD_ID:2313541 11907451 ADRA2B adrenoceptor alpha 2B gene DOID:1826 epilepsy ISO RGD:731080 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11907451 ADRA2B adrenoceptor alpha 2B gene DOID:5419 schizophrenia ISO RGD:731080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11907451 ADRA2B adrenoceptor alpha 2B gene DOID:5844 myocardial infarction ISO RGD:731080 D RGD:9068941 20200609 RGD PMID:12535806|REF_RGD_ID:1559314 11907451 ADRA2B adrenoceptor alpha 2B gene DOID:630 genetic disease ISO RGD:731080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11907451 ADRA2B adrenoceptor alpha 2B gene DOID:684 hepatocellular carcinoma ISO RGD:731080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11907451 ADRA2B adrenoceptor alpha 2B gene DOID:850 lung disease ISO RGD:731080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20729197 11907451 ADRA2B adrenoceptor alpha 2B gene DOID:9000781 Cyanosis ISO RGD:731080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20729197 11907451 ADRA2B adrenoceptor alpha 2B gene DOID:9002165 Diabetic Nephropathies ISO RGD:731080 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism (human) PMID:15660746|REF_RGD_ID:2313545 11907451 ADRA2B adrenoceptor alpha 2B gene DOID:9007925 Sudden Cardiac Death ISO RGD:731080 D RGD:9068941 20200609 RGD PMID:12535806|REF_RGD_ID:1559314 11907451 ADRA2B adrenoceptor alpha 2B gene DOID:9352 type 2 diabetes mellitus ISO RGD:731080 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:17277585|REF_RGD_ID:2313543 11907451 ADRA2B adrenoceptor alpha 2B gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:731080 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:17039423|REF_RGD_ID:2313544 11907451 ADRA2B adrenoceptor alpha 2B gene DOID:9743 diabetic neuropathy ISO RGD:731080 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism (human) PMID:17516297|REF_RGD_ID:2313542 11907451 ADRA2B adrenoceptor alpha 2B gene DOID:9970 obesity ISO RGD:731080 D RGD:9068941 20200609 RGD PMID:10404816|REF_RGD_ID:1300265 11907460 CASP14 caspase 14 gene DOID:630 genetic disease ISO RGD:1323414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907460 CASP14 caspase 14 gene DOID:9001703 Autosomal Recessive Congenital Ichthyosis 12 ISO RGD:1323414 D RGD:7240710 20190315 OMIM 11907460 CASP14 caspase 14 gene DOID:9001703 Autosomal Recessive Congenital Ichthyosis 12 ISO RGD:1323414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 12 PMID:25741868|PMID:27494380|PMID:28492532 11907477 GRP gastrin releasing peptide gene DOID:0060842 isolated microphthalmia 3 ISO RGD:737598 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 11907477 GRP gastrin releasing peptide gene DOID:0111988 immunodeficiency 12 ISO RGD:737598 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 11907477 GRP gastrin releasing peptide gene DOID:10914 amnestic disorder ISO RGD:737598 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11564462 11907477 GRP gastrin releasing peptide gene DOID:630 genetic disease ISO RGD:737598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907477 GRP gastrin releasing peptide gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:737598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2910524 11907477 GRP gastrin releasing peptide gene DOID:9006169 Head and Neck Neoplasms ISO RGD:737598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342401 11907477 GRP gastrin releasing peptide gene DOID:9006202 Pruritus ISO RGD:737598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29669290 11907492 AMN1 antagonist of mitotic exit network 1 homolog gene DOID:630 genetic disease ISO RGD:1606942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907516 RAI2 retinoic acid induced 2 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1353493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11907516 RAI2 retinoic acid induced 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11907516 RAI2 retinoic acid induced 2 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1353493 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:19780792|PMID:21770923|PMID:22872100|PMID:23184456|PMID:25315662|PMID:28492532|PMID:30945684 11907516 RAI2 retinoic acid induced 2 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1353493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11907516 RAI2 retinoic acid induced 2 gene DOID:12849 autistic disorder ISO RGD:1353493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11907516 RAI2 retinoic acid induced 2 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1353493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11907516 RAI2 retinoic acid induced 2 gene DOID:630 genetic disease ISO RGD:1353493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907516 RAI2 retinoic acid induced 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11907516 RAI2 retinoic acid induced 2 gene DOID:9565 dextrocardia ISO RGD:1353493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dextrocardia 11907530 PLCXD3 phosphatidylinositol specific phospholipase C X domain containing 3 gene DOID:630 genetic disease ISO RGD:1604168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907530 PLCXD3 phosphatidylinositol specific phospholipase C X domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11907537 EXOC7 exocyst complex component 7 gene DOID:630 genetic disease ISO RGD:1347556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907537 EXOC7 exocyst complex component 7 gene DOID:9009012 NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY ISO RGD:1347556 D RGD:7240710 20210120 OMIM 11907537 EXOC7 exocyst complex component 7 gene DOID:9009012 NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY ISO RGD:1347556 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and brain atrophy PMID:25741868|PMID:32103185 11907575 INTS3 integrator complex subunit 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1603299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11907575 INTS3 integrator complex subunit 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11907575 INTS3 integrator complex subunit 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603299 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11907575 INTS3 integrator complex subunit 3 gene DOID:10283 prostate cancer ISO RGD:1603299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11907575 INTS3 integrator complex subunit 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1603299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11907575 INTS3 integrator complex subunit 3 gene DOID:2661 myoepithelioma ISO RGD:1603299 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11907575 INTS3 integrator complex subunit 3 gene DOID:5812 MHC class II deficiency ISO RGD:1603299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11907575 INTS3 integrator complex subunit 3 gene DOID:630 genetic disease ISO RGD:1603299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907575 INTS3 integrator complex subunit 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11907624 PPP4R1 protein phosphatase 4 regulatory subunit 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:735851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11907624 PPP4R1 protein phosphatase 4 regulatory subunit 1 gene DOID:1059 intellectual disability ISO RGD:735851 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11907624 PPP4R1 protein phosphatase 4 regulatory subunit 1 gene DOID:543 dystonia ISO RGD:735851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 11907624 PPP4R1 protein phosphatase 4 regulatory subunit 1 gene DOID:630 genetic disease ISO RGD:735851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907646 FMNL1 formin like 1 gene DOID:630 genetic disease ISO RGD:1322289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907646 FMNL1 formin like 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11907677 BNIP3L BCL2 interacting protein 3 like gene DOID:11714 gestational diabetes ISO RGD:621354 D RGD:9068941 20200609 RGD PMID:26512955|REF_RGD_ID:11564338 11907677 BNIP3L BCL2 interacting protein 3 like gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1549974 D RGD:9068941 20200609 RGD PMID:29440992|REF_RGD_ID:13506949 11907677 BNIP3L BCL2 interacting protein 3 like gene DOID:3525 middle cerebral artery infarction ISO RGD:621354 D RGD:9068941 20200609 RGD PMID:15902200|PMID:21029239|REF_RGD_ID:2314138|REF_RGD_ID:9068917 11907677 BNIP3L BCL2 interacting protein 3 like gene DOID:4989 pancreatitis ISO RGD:621354 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:14530762|REF_RGD_ID:7483579 11907677 BNIP3L BCL2 interacting protein 3 like gene DOID:630 genetic disease ISO RGD:1350585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907677 BNIP3L BCL2 interacting protein 3 like gene DOID:9000039 Spinal Cord Injuries ISO RGD:621354 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:23637053|REF_RGD_ID:11564330 11907677 BNIP3L BCL2 interacting protein 3 like gene DOID:9002676 Cerebral Hemorrhage ISO RGD:621354 D RGD:9068941 20200609 RGD PMID:23771482|REF_RGD_ID:7483577 11907677 BNIP3L BCL2 interacting protein 3 like gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:621354 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:24072673|REF_RGD_ID:10402542 11907687 SCARA5 scavenger receptor class A member 5 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1606661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11907687 SCARA5 scavenger receptor class A member 5 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1606661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11907687 SCARA5 scavenger receptor class A member 5 gene DOID:630 genetic disease ISO RGD:1606661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907701 SEPTIN6 septin 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1316585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11907701 SEPTIN6 septin 6 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1316585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 11907701 SEPTIN6 septin 6 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1316585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 11907701 SEPTIN6 septin 6 gene DOID:12849 autistic disorder ISO RGD:1316585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11907701 SEPTIN6 septin 6 gene DOID:630 genetic disease ISO RGD:1316585 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907727 TSSK6 testis specific serine kinase 6 gene DOID:630 genetic disease ISO RGD:1605019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907735 CYP20A1 cytochrome P450 family 20 subfamily A member 1 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1606532 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11907735 CYP20A1 cytochrome P450 family 20 subfamily A member 1 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1606532 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11907735 CYP20A1 cytochrome P450 family 20 subfamily A member 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1606532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11907735 CYP20A1 cytochrome P450 family 20 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1606532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907735 CYP20A1 cytochrome P450 family 20 subfamily A member 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1606532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 11907735 CYP20A1 cytochrome P450 family 20 subfamily A member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11907735 CYP20A1 cytochrome P450 family 20 subfamily A member 1 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1606532 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11907761 NAPG NSF attachment protein gamma gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1320824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11907761 NAPG NSF attachment protein gamma gene DOID:1059 intellectual disability ISO RGD:1320824 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11907761 NAPG NSF attachment protein gamma gene DOID:543 dystonia ISO RGD:1320824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 11907761 NAPG NSF attachment protein gamma gene DOID:630 genetic disease ISO RGD:1320824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907805 SLC13A5 solute carrier family 13 member 5 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1351292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy PMID:24033266|PMID:24995870|PMID:25741868|PMID:26384929|PMID:27261973|PMID:27600704|PMID:28492532|PMID:28673551|PMID:33040525 11907805 SLC13A5 solute carrier family 13 member 5 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1351292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11907805 SLC13A5 solute carrier family 13 member 5 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1351292 D RGD:7240710 20180130 OMIM 11907805 SLC13A5 solute carrier family 13 member 5 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1351292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:10615133|PMID:15249368|PMID:15347646|PMID:16199547|PMID:17576681|PMID:18414213|PMID:24033266|PMID:24995870|PMID:25741868|PMID:26384929|PMID:26467025|PMID:26960556|PMID:27261973|PMID:27600704|PMID:27913086|PMID:28327206|PMID:28492532|PMID:28673551|PMID:30054523|PMID:31780880|PMID:32551328|PMID:33040525|PMID:33258288|PMID:34489640|PMID:9536098 11907805 SLC13A5 solute carrier family 13 member 5 gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:1351292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 11907805 SLC13A5 solute carrier family 13 member 5 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1351292 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11907805 SLC13A5 solute carrier family 13 member 5 gene DOID:10907 microcephaly ISO RGD:1351292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11907805 SLC13A5 solute carrier family 13 member 5 gene DOID:12177 common variable immunodeficiency ISO RGD:1351292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11907805 SLC13A5 solute carrier family 13 member 5 gene DOID:2729 dyskeratosis congenita ISO RGD:1351292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11907805 SLC13A5 solute carrier family 13 member 5 gene DOID:630 genetic disease ISO RGD:1351292 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:18414213|PMID:24995870|PMID:25741868|PMID:26384929|PMID:26467025|PMID:26960556|PMID:27261973|PMID:27600704|PMID:27913086|PMID:28327206|PMID:28492532|PMID:28673551 11907805 SLC13A5 solute carrier family 13 member 5 gene DOID:9001793 Generalized Epilepsy ISO RGD:1351292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:32581362 11907805 SLC13A5 solute carrier family 13 member 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1351292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 11907805 SLC13A5 solute carrier family 13 member 5 gene DOID:9452 fatty liver disease ISO RGD:1351292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26303333 11907826 SLC12A6 solute carrier family 12 member 6 gene DOID:0070015 autosomal recessive dyskeratosis congenita 1 ISO RGD:1322734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 11907826 SLC12A6 solute carrier family 12 member 6 gene DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy ISO RGD:1322734 D RGD:7240710 20180130 OMIM 11907826 SLC12A6 solute carrier family 12 member 6 gene DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy ISO RGD:1322734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy PMID:12368912|PMID:12838516|PMID:16199547|PMID:1660691|PMID:16606917|PMID:17576681|PMID:17893295|PMID:18414213|PMID:18566107|PMID:20020398|PMID:21628467|PMID:23593405|PMID:24341143|PMID:25525159|PMID:25741868|PMID:26392352|PMID:27717089|PMID:28492532|PMID:30038111|PMID:31439721|PMID:9536098 11907826 SLC12A6 solute carrier family 12 member 6 gene DOID:0110317 hypertrophic cardiomyopathy 11 ISO RGD:1322734 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 PMID:18458017|PMID:27125413|PMID:28492532 11907826 SLC12A6 solute carrier family 12 member 6 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1322734 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:12368912|PMID:12838516|PMID:16199547|PMID:1660691|PMID:16606917|PMID:17893295|PMID:20020398|PMID:21628467|PMID:23593405|PMID:25525159|PMID:25741868|PMID:28492532|PMID:30038111|PMID:31439721 11907826 SLC12A6 solute carrier family 12 member 6 gene DOID:2477 motor peripheral neuropathy ISO RGD:1322735 D RGD:9068941 20220825 MouseDO 11907826 SLC12A6 solute carrier family 12 member 6 gene DOID:2717 Bloom syndrome ISO RGD:1322734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11907826 SLC12A6 solute carrier family 12 member 6 gene DOID:574 peripheral nervous system disease ISO RGD:1322734 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:27993330|PMID:28492532 11907826 SLC12A6 solute carrier family 12 member 6 gene DOID:630 genetic disease ISO RGD:1322734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12368912|PMID:16606917|PMID:19665974|PMID:24043619|PMID:25741868|PMID:28492532|PMID:28814402|PMID:31439721|PMID:33199848|PMID:33323309|PMID:35733399 11907826 SLC12A6 solute carrier family 12 member 6 gene DOID:870 neuropathy ISO RGD:1322734 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autosomal recessive axonal hereditary motor and sensory neuropathy | ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:27993330|PMID:28492532 11907826 SLC12A6 solute carrier family 12 member 6 gene DOID:9000899 Charcot-Marie-Tooth Disease Axonal Type 2II ISO RGD:1322734 D RGD:7240710 20221012 OMIM 11907826 SLC12A6 solute carrier family 12 member 6 gene DOID:9000899 Charcot-Marie-Tooth Disease Axonal Type 2II ISO RGD:1322734 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2II PMID:16606917|PMID:25741868|PMID:27485015|PMID:28492532|PMID:31439721|PMID:33323309|PMID:35733399 11907826 SLC12A6 solute carrier family 12 member 6 gene DOID:9003133 Hypertelorism ISO RGD:1322734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:12368912|PMID:16606917|PMID:25741868|PMID:28492532 11907826 SLC12A6 solute carrier family 12 member 6 gene DOID:9004373 Autosomal Recessive Dyskeratosis Congenita ISO RGD:1322734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive 11907826 SLC12A6 solute carrier family 12 member 6 gene DOID:9256 colorectal cancer ISO RGD:1322734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11907911 ASCL5 achaete-scute family bHLH transcription factor 5 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1603722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11907911 ASCL5 achaete-scute family bHLH transcription factor 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1603722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11907911 ASCL5 achaete-scute family bHLH transcription factor 5 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1603722 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11907911 ASCL5 achaete-scute family bHLH transcription factor 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11907922 TMEM42 transmembrane protein 42 gene DOID:630 genetic disease ISO RGD:1348470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907934 BBS10 Bardet-Biedl syndrome 10 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1605944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:16582908|PMID:17106446|PMID:20120035|PMID:20177705|PMID:20472660|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21044901|PMID:21052717|PMID:21209035|PMID:21344540|PMID:21642631|PMID:22773737|PMID:23591405|PMID:24033266|PMID:24400638|PMID:24746959|PMID:25366773|PMID:25741868|PMID:25982971|PMID:26467025|PMID:27385962|PMID:27449316|PMID:27486776|PMID:28041643|PMID:28492532|PMID:30614526|PMID:30718709|PMID:31196119 11907934 BBS10 Bardet-Biedl syndrome 10 gene DOID:0110132 Bardet-Biedl syndrome 10 ISO RGD:1605944 D RGD:7240710 20180130 OMIM 11907934 BBS10 Bardet-Biedl syndrome 10 gene DOID:0110132 Bardet-Biedl syndrome 10 ISO RGD:1605944 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 10 | ClinVar Annotator: match by term: Bardet-biedl syndrome 1/10, digenic PMID:16582908|PMID:16823392|PMID:17106446|PMID:17576681|PMID:17980398|PMID:19190184|PMID:19797195|PMID:20080638|PMID:20120035|PMID:20177705|PMID:20472660|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21044901|PMID:21052717|PMID:21157496|PMID:21209035|PMID:21344540|PMID:21463199|PMID:21517826|PMID:21642631|PMID:22353939|PMID:22410627|PMID:22773737|PMID:22958920|PMID:22995991|PMID:23591405|PMID:24033266|PMID:24041679|PMID:24400638|PMID:24488770|PMID:24611592|PMID:24746959|PMID:25133751|PMID:25170860|PMID:25326635|PMID:25366773|PMID:25412400|PMID:25741868|PMID:25966130|PMID:25982971|PMID:25988237|PMID:26003401|PMID:26273430|PMID:26467025|PMID:26518167|PMID:27032803|PMID:27245532|PMID:27385962|PMID:27449316|PMID:27486776|PMID:27533158|PMID:27659767|PMID:27788217|PMID:27959697|PMID:28041643|PMID:28143435|PMID:28492532|PMID:28808579|PMID:29261186|PMID:29806606|PMID:30335236|PMID:30408610|PMID:30614526|PMID:30718709|PMID:31196119|PMID:31639430|PMID:32448990|PMID:32531858|PMID:33964006|PMID:34940782|PMID:9536098 11907934 BBS10 Bardet-Biedl syndrome 10 gene DOID:10584 retinitis pigmentosa ISO RGD:1605944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16582908|PMID:20120035|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21052717|PMID:21209035|PMID:21344540|PMID:21642631|PMID:24400638|PMID:24746959|PMID:25741868|PMID:26467025|PMID:27385962|PMID:28041643|PMID:28492532|PMID:30614526|PMID:30718709 11907934 BBS10 Bardet-Biedl syndrome 10 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605944 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16582908|PMID:16823392|PMID:17106446|PMID:17576681|PMID:17980398|PMID:19190184|PMID:19797195|PMID:20080638|PMID:20120035|PMID:20177705|PMID:20472660|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21044901|PMID:21052717|PMID:21157496|PMID:21209035|PMID:21344540|PMID:21517826|PMID:21642631|PMID:22353939|PMID:22410627|PMID:22773737|PMID:22958920|PMID:22995991|PMID:23591405|PMID:24033266|PMID:24041679|PMID:24400638|PMID:24488770|PMID:24611592|PMID:24746959|PMID:25133751|PMID:25170860|PMID:25326635|PMID:25366773|PMID:25412400|PMID:25439097|PMID:25741868|PMID:25966130|PMID:25982971|PMID:26003401|PMID:26273430|PMID:26467025|PMID:26518167|PMID:27032803|PMID:27245532|PMID:27385962|PMID:27449316|PMID:27486776|PMID:27533158|PMID:27659767|PMID:27788217|PMID:27959697|PMID:28041643|PMID:28143435|PMID:28492532|PMID:28808579|PMID:28991257|PMID:29261186|PMID:29806606|PMID:29947050|PMID:30335236|PMID:30614526|PMID:30718709|PMID:31196119|PMID:31639430|PMID:32361989|PMID:32448990|PMID:32531858|PMID:33964006|PMID:34940782|PMID:5982971|PMID:9536098 11907934 BBS10 Bardet-Biedl syndrome 10 gene DOID:630 genetic disease ISO RGD:1605944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12083524|PMID:16582908|PMID:17576681|PMID:20080638|PMID:20120035|PMID:20177705|PMID:20472660|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21044901|PMID:21052717|PMID:21209035|PMID:21344540|PMID:21517826|PMID:21642631|PMID:22410627|PMID:24400638|PMID:24746959|PMID:25741868|PMID:25982971|PMID:26467025|PMID:27385962|PMID:28041643|PMID:28492532|PMID:30335236|PMID:30614526|PMID:30718709|PMID:8861908|PMID:9536098 11907934 BBS10 Bardet-Biedl syndrome 10 gene DOID:8501 fundus dystrophy ISO RGD:1605944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16582908|PMID:20080638|PMID:20120035|PMID:20177705|PMID:20472660|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21044901|PMID:21052717|PMID:21157496|PMID:21209035|PMID:21344540|PMID:21517826|PMID:21642631|PMID:22410627|PMID:22773737|PMID:24033266|PMID:24400638|PMID:24746959|PMID:25741868|PMID:25982971|PMID:26003401|PMID:26467025|PMID:27385962|PMID:27486776|PMID:27659767|PMID:27788217|PMID:28041643|PMID:28143435|PMID:28492532|PMID:28808579|PMID:30614526|PMID:30718709 11907934 BBS10 Bardet-Biedl syndrome 10 gene DOID:9001069 Bardet-Biedl Syndrome 6/10, Digenic ISO RGD:1605944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-biedl syndrome 6/10, digenic PMID:16582908|PMID:20120035|PMID:20805367|PMID:20876674|PMID:21052717|PMID:21209035|PMID:21344540|PMID:21642631|PMID:24400638|PMID:24746959|PMID:25741868|PMID:26467025|PMID:27385962|PMID:28041643|PMID:28492532|PMID:30614526|PMID:30718709 11907944 BTBD2 BTB domain containing 2 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1344972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 11907944 BTBD2 BTB domain containing 2 gene DOID:5339 cyclic hematopoiesis ISO RGD:1344972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11907944 BTBD2 BTB domain containing 2 gene DOID:630 genetic disease ISO RGD:1344972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907944 BTBD2 BTB domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11907957 SLC9C1 solute carrier family 9 member C1 gene DOID:630 genetic disease ISO RGD:1351436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907986 LIN28A lin-28 homolog A gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1316876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 11907986 LIN28A lin-28 homolog A gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1316876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 11907986 LIN28A lin-28 homolog A gene DOID:14566 disease of cellular proliferation ISO RGD:1316876 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19483683 11907986 LIN28A lin-28 homolog A gene DOID:2154 nephroblastoma ISO RGD:1316877 D RGD:9068941 20220825 MouseDO OMIM:194070 11907986 LIN28A lin-28 homolog A gene DOID:630 genetic disease ISO RGD:1316876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11907986 LIN28A lin-28 homolog A gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1316876 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26910839 11907986 LIN28A lin-28 homolog A gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1316876 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19483683 11907994 OCIAD2 OCIA domain containing 2 gene DOID:630 genetic disease ISO RGD:1349620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908019 ANAPC13 anaphase promoting complex subunit 13 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1346286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 11908031 SERPINA6 serpin family A member 6 gene DOID:0080054 achondrogenesis type IA ISO RGD:1353758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11908031 SERPINA6 serpin family A member 6 gene DOID:0081063 DICER1 syndrome ISO RGD:1353758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 11908031 SERPINA6 serpin family A member 6 gene DOID:0090030 corticosteroid-binding globulin deficiency ISO RGD:1353758 D RGD:7240710 20180130 OMIM 11908031 SERPINA6 serpin family A member 6 gene DOID:0090030 corticosteroid-binding globulin deficiency ISO RGD:1353758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corticosteroid-binding globulin deficiency PMID:10634411|PMID:11502797|PMID:12780753|PMID:17245537|PMID:25741868|PMID:7061486|PMID:8212073 11908031 SERPINA6 serpin family A member 6 gene DOID:5082 liver cirrhosis ISO RGD:1353758 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11908031 SERPINA6 serpin family A member 6 gene DOID:630 genetic disease ISO RGD:1353758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908031 SERPINA6 serpin family A member 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353758 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11908031 SERPINA6 serpin family A member 6 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353758 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11908031 SERPINA6 serpin family A member 6 gene DOID:9452 fatty liver disease ISO RGD:1353758 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11908041 LINC03042 long intergenic non-protein coding RNA 3042 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1602035 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 11908041 LINC03042 long intergenic non-protein coding RNA 3042 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1602035 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 11908041 LINC03042 long intergenic non-protein coding RNA 3042 gene DOID:607 paraplegia ISO RGD:1602035 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11908071 TTI1 TELO2 interacting protein 1 gene DOID:1059 intellectual disability ISO RGD:1605708 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:36724785 11908071 TTI1 TELO2 interacting protein 1 gene DOID:2234 focal epilepsy ISO RGD:1605708 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11908071 TTI1 TELO2 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1605708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908092 PKD2L2 polycystin 2 like 2, transient receptor potential cation channel gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1321074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11908092 PKD2L2 polycystin 2 like 2, transient receptor potential cation channel gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321074 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11908092 PKD2L2 polycystin 2 like 2, transient receptor potential cation channel gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1321074 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 11908092 PKD2L2 polycystin 2 like 2, transient receptor potential cation channel gene DOID:630 genetic disease ISO RGD:1321074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908092 PKD2L2 polycystin 2 like 2, transient receptor potential cation channel gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11908092 PKD2L2 polycystin 2 like 2, transient receptor potential cation channel gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321074 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11908146 KIFBP kinesin family binding protein gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1317800 D RGD:7240710 20190315 OMIM 11908146 KIFBP kinesin family binding protein gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1317800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome PMID:15883926|PMID:18414213|PMID:23427148|PMID:24072599|PMID:24901346|PMID:25741868|PMID:26467025|PMID:28277559|PMID:28492532|PMID:32939943 11908146 KIFBP kinesin family binding protein gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1317800 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15883926 11908146 KIFBP kinesin family binding protein gene DOID:1059 intellectual disability ISO RGD:1317800 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15883926 11908146 KIFBP kinesin family binding protein gene DOID:10907 microcephaly ISO RGD:1317800 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15883926 11908146 KIFBP kinesin family binding protein gene DOID:574 peripheral nervous system disease ISO RGD:1317800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868 11908146 KIFBP kinesin family binding protein gene DOID:630 genetic disease ISO RGD:1317800 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908146 KIFBP kinesin family binding protein gene DOID:870 neuropathy ISO RGD:1317800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868 11908166 SNX5 sorting nexin 5 gene DOID:630 genetic disease ISO RGD:1320945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908166 SNX5 sorting nexin 5 gene DOID:9000217 Stomach Neoplasms ISO RGD:1320945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11908166 SNX5 sorting nexin 5 gene DOID:9000918 Disease Progression ISO RGD:1320945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:SNP: : 39179G>T(human) PMID:19626461|REF_RGD_ID:9589082 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1606037 D RGD:9068941 20200609 RGD PMID:24625449|REF_RGD_ID:9589120 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1606037 D RGD:9068941 20200609 RGD PMID:24625449|REF_RGD_ID:9589120 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:0050908 myelodysplastic syndrome ISO RGD:1606037 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:32431489 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:0060041 autism spectrum disorder ISO RGD:1606037 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:25290267|PMID:35663546 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:0070168 spermatogenic failure 3 ISO RGD:1606037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:10647011|PMID:11102980|PMID:11919202|PMID:15580563|PMID:25741868|PMID:28492532|PMID:31479588 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1606037 D RGD:7240710 20180130 OMIM 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1606037 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency | ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 1 PMID:10555141|PMID:10588719|PMID:10647011|PMID:11038463|PMID:11102980|PMID:11741835|PMID:11919202|PMID:12239717|PMID:12925568|PMID:15580563|PMID:16501171|PMID:16543361|PMID:17576681|PMID:17893117|PMID:17908720|PMID:21549127|PMID:21559330|PMID:23486536|PMID:24033266|PMID:24577265|PMID:25741868|PMID:26851945|PMID:27153398|PMID:27479843|PMID:27734333|PMID:28128455|PMID:28454995|PMID:28492532|PMID:28713390|PMID:29255178|PMID:29659838|PMID:30010917|PMID:30630233|PMID:31479588|PMID:31686314|PMID:32135276|PMID:32888943|PMID:3361388|PMID:9536098 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:1324 lung cancer disease_progression ISO RGD:1606037 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:24548441|REF_RGD_ID:9588658 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:14654 prostatitis ISO RGD:1303274 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:prostate gland ventral lobe: PMID:20056826|REF_RGD_ID:9588290 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:1682 congenital heart disease ISO RGD:1303274 D RGD:9068941 20200609 RGD associated with Vitamin A Deficiency; mRNA:decreased expression:heart: PMID:23333085|REF_RGD_ID:9588314 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:2030 anxiety disorder ISO RGD:1303274 D RGD:9068941 20200609 RGD mRNA:decreased expression:hypothalamus: PMID:23529784|REF_RGD_ID:9588317 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:2526 prostate adenocarcinoma ISO RGD:1551604 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:prostate gland: PMID:17178860|REF_RGD_ID:2289681 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:288 endometriosis of uterus ISO RGD:1606037 D RGD:9068941 20200609 RGD protein:increased expression:ectopic endometrium: PMID:22572543|REF_RGD_ID:9588664 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:289 endometriosis ISO RGD:1606037 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium: PMID:17081533|REF_RGD_ID:9588669 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:305 carcinoma ISO RGD:1606037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21458988 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:3275 thymoma susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD associated with Myasthenia Gravis;DNA:SNP:promoter: -579G>T(human) PMID:24260492|REF_RGD_ID:9589098 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1606037 D RGD:9068941 20200609 RGD PMID:22919364|REF_RGD_ID:9589121 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1606037 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:22213175|REF_RGD_ID:9589085 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype:promoter:-283T >C,-579G>T(human) PMID:15528220|REF_RGD_ID:9589086 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:5409 lung small cell carcinoma susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-283T >C,-579G>T(human) PMID:15528220|REF_RGD_ID:9589086 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:5419 schizophrenia susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :(rs6119954),(rs2424908)(human) PMID:19576953|REF_RGD_ID:9589091 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:5520 head and neck squamous cell carcinoma susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:SNP,haplotype:promoter:-149C>T,-579G>T(human) PMID:18455294|REF_RGD_ID:9589078 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:612 primary immunodeficiency disease ISO RGD:1606037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17908720 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:630 genetic disease ISO RGD:1606037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24577265|PMID:27479843|PMID:28492532|PMID:31686314 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:6705 gastric body carcinoma ISO RGD:1606037 D RGD:9068941 20200609 RGD PMID:20127025|REF_RGD_ID:9589084 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:684 hepatocellular carcinoma ISO RGD:1303274 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:11844796|REF_RGD_ID:2289670 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:684 hepatocellular carcinoma ISO RGD:1606037 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:15885882|REF_RGD_ID:9588598 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:7148 rheumatoid arthritis disease_progression ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-283C>T(human) PMID:19777235|REF_RGD_ID:9589110 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:8552 chronic myeloid leukemia disease_progression ISO RGD:1606037 D RGD:9068941 20200609 RGD PMID:11222358|REF_RGD_ID:9588667 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:8923 skin melanoma disease_progression ISO RGD:1606037 D RGD:9068941 20200609 RGD PMID:21081840|REF_RGD_ID:9589074 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1606037 D RGD:9068941 20200609 RGD mRNA:decreased expression:mononuclear cell PMID:18683034|REF_RGD_ID:9588662 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:8924 autoimmune thrombocytopenic purpura susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:SNP:promoter: -579G>T(human) PMID:23000068|REF_RGD_ID:9589094 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:9000081 Lymphatic Metastasis ISO RGD:1606037 D RGD:9068941 20200609 RGD associated with Carcinoma, Pancreatic Ductal; PMID:22919364|REF_RGD_ID:9589121 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:9000217 Stomach Neoplasms ISO RGD:1606037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21458988 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:9000965 Neoplasm Metastasis ISO RGD:1606037 D RGD:9068941 20200609 RGD associated with Uterine Cervical Neoplasms; PMID:22330137|REF_RGD_ID:9589117 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:9001030 Multiple Primary Neoplasms treatment ISO RGD:1606037 D RGD:9068941 20200609 RGD associated with Head and Neck Neoplasms;DNA:SNP: :149C>T(rs2424913)(human) PMID:22009713|REF_RGD_ID:9589077 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1606037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:28492532|PMID:29255178 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:9002013 Facioscapulohumeral Muscular Dystrophy 4 ISO RGD:1606037 D RGD:7240710 20210825 OMIM 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:9002013 Facioscapulohumeral Muscular Dystrophy 4 ISO RGD:1606037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 4, digenic PMID:27153398|PMID:28492532 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1606037 D RGD:9068941 20200609 RGD mRNA:decreased expression: B cell PMID:15467427|REF_RGD_ID:9589146 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:9002231 Fetal Growth Retardation ISO RGD:1303274 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland: PMID:24717552|REF_RGD_ID:9590296 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16012746 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:9003036 Oral Lichen Planus ISO RGD:1606037 D RGD:9068941 20200609 RGD protein:increased expression:mouth mucosa: PMID:22236544|REF_RGD_ID:9589075 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:9003036 Oral Lichen Planus susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:polymorphism: :C46359T(human) PMID:22236544|REF_RGD_ID:9589075 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1606037 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix: PMID:22330137|REF_RGD_ID:9589117 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:9003373 Uterine Cervical Neoplasms susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:SNP: :46359C>T(human) PMID:23677709|REF_RGD_ID:9589114 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1606037 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:uterus: PMID:15721400|REF_RGD_ID:9588596 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:1303274 D RGD:9068941 20200609 RGD PMID:24447120|REF_RGD_ID:9588304 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:9005539 Familial Prostate Cancer ISO RGD:1606037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:9007456 Female Infertility ISO RGD:1606037 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34773530 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:9007715 Endometrial Neoplasms ISO RGD:1606037 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:uterus: PMID:15721400|REF_RGD_ID:9588596 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:9008443 Colorectal Neoplasms susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:SNP: :rs406193(human) PMID:19843671|REF_RGD_ID:9589147 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:9008443 Colorectal Neoplasms susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-579G>T(human) PMID:18662374|REF_RGD_ID:9589079 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:9008644 Dysmenorrhea ISO RGD:1606037 D RGD:9068941 20200609 RGD protein:increased expression:ectopic endometrium: PMID:22572543|REF_RGD_ID:9588664 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1606037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17908720 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:9008939 Breast Neoplasms ISO RGD:1606037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18221536|PMID:22520950 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:9119 acute myeloid leukemia ISO RGD:1606037 D RGD:9068941 20200609 RGD mRNA:increased expression:CD34+ bone marrow cells PMID:11222358|REF_RGD_ID:9588667 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1606037 D RGD:9068941 20200609 RGD PMID:23251566|REF_RGD_ID:9589071 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:SNP:promoter: C>T46359(human) PMID:16194411|REF_RGD_ID:9589108 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: :rs1569686,rs2424908, rs6087990, rs6119954(human) PMID:24069326|REF_RGD_ID:9589103 11908224 DNMT3B DNA methyltransferase 3 beta gene DOID:9744 type 1 diabetes mellitus ISO RGD:1606037 D RGD:9068941 20200609 RGD mRNA:increased expression:CD4+ T cell: PMID:21864931|REF_RGD_ID:9589109 11908270 TACR2 tachykinin receptor 2 gene DOID:0060180 colitis ISO RGD:3812 D RGD:9068941 20200609 RGD PMID:12490601|PMID:18715640|REF_RGD_ID:2304260|REF_RGD_ID:5147478 11908270 TACR2 tachykinin receptor 2 gene DOID:1176 bronchial disease ISO RGD:736836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15774269 11908270 TACR2 tachykinin receptor 2 gene DOID:2841 asthma ISO RGD:736836 D RGD:9068941 20200609 RGD PMID:19880429|REF_RGD_ID:5147641 11908270 TACR2 tachykinin receptor 2 gene DOID:2841 asthma ISO RGD:736836 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.G231E (human) PMID:20175803|REF_RGD_ID:5147640 11908270 TACR2 tachykinin receptor 2 gene DOID:630 genetic disease ISO RGD:736836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908270 TACR2 tachykinin receptor 2 gene DOID:6432 pulmonary hypertension ISO RGD:3812 D RGD:9068941 20200609 RGD PMID:12662901|REF_RGD_ID:5147638 11908270 TACR2 tachykinin receptor 2 gene DOID:9005219 Abnormal Reflexes ISO RGD:3812 D RGD:9068941 20200609 RGD PMID:11342967|REF_RGD_ID:5147480 11908270 TACR2 tachykinin receptor 2 gene DOID:9007073 Cough susceptibility ISO RGD:736836 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.G231E (human) PMID:19583679|REF_RGD_ID:5147627 11908284 LCN2 lipocalin 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:69453 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11908284 LCN2 lipocalin 2 gene DOID:0050855 renal fibrosis ISO RGD:69454 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney cortex: PMID:22342673|REF_RGD_ID:7245951 11908284 LCN2 lipocalin 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:69453 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11908284 LCN2 lipocalin 2 gene DOID:0080322 polycystic kidney disease ISO RGD:69454 D RGD:9068941 20210430 RGD mRNA:increased expression:kidney, epithelial cell PMID:22258321|REF_RGD_ID:126790531 11908284 LCN2 lipocalin 2 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:69453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11908284 LCN2 lipocalin 2 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:69453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 11908284 LCN2 lipocalin 2 gene DOID:0080600 COVID-19 ISO RGD:69453 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 11908284 LCN2 lipocalin 2 gene DOID:0080784 urinary tract infection ISO RGD:69453 D RGD:9068941 20210409 RGD protein:increased expression:urine: PMID:24937428|REF_RGD_ID:126779579 11908284 LCN2 lipocalin 2 gene DOID:0080784 urinary tract infection ameliorates ISO RGD:69454 D RGD:9068941 20210409 RGD PMID:24937428|REF_RGD_ID:126779579 11908284 LCN2 lipocalin 2 gene DOID:0080784 urinary tract infection disease_progression ISO RGD:69454 D RGD:9068941 20210409 RGD PMID:25398327|REF_RGD_ID:126779559 11908284 LCN2 lipocalin 2 gene DOID:0080784 urinary tract infection treatment ISO RGD:69453 D RGD:9068941 20210409 RGD PMID:24937428|REF_RGD_ID:126779579 11908284 LCN2 lipocalin 2 gene DOID:0081292 traumatic brain injury ISO RGD:69408 D RGD:9068941 20210423 RGD PMID:31539545|REF_RGD_ID:126781751 11908284 LCN2 lipocalin 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:69453 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11908284 LCN2 lipocalin 2 gene DOID:10591 pre-eclampsia ISO RGD:69453 D RGD:9068941 20210416 RGD protein:increased expression:serum,urine PMID:23957217|REF_RGD_ID:126781721 11908284 LCN2 lipocalin 2 gene DOID:10608 celiac disease ISO RGD:69453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 11908284 LCN2 lipocalin 2 gene DOID:10825 essential hypertension ISO RGD:69453 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:22923545|REF_RGD_ID:7245500 11908284 LCN2 lipocalin 2 gene DOID:11111 hydronephrosis ISO RGD:69453 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:21279810|REF_RGD_ID:7245985 11908284 LCN2 lipocalin 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:69453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 11908284 LCN2 lipocalin 2 gene DOID:12241 beta thalassemia ISO RGD:69453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16755567 11908284 LCN2 lipocalin 2 gene DOID:13141 uveitis ISO RGD:69408 D RGD:9068941 20210423 RGD protein:increased expression:retina, M��ller cell PMID:29590655|REF_RGD_ID:126781759 11908284 LCN2 lipocalin 2 gene DOID:13148 acute cystitis disease_progression ISO RGD:69453 D RGD:9068941 20210409 RGD associated with urinary tract infection; PMID:25398327|REF_RGD_ID:126779559 11908284 LCN2 lipocalin 2 gene DOID:13272 Klebsiella pneumonia ISO RGD:69454 D RGD:9068941 20210409 RGD protein:increased expression:lung PMID:19342674|REF_RGD_ID:126725085 11908284 LCN2 lipocalin 2 gene DOID:13272 Klebsiella pneumonia ISO RGD:69454 D RGD:9068941 20210409 RGD protein:increased expression:serum PMID:25234944|REF_RGD_ID:126725084 11908284 LCN2 lipocalin 2 gene DOID:13272 Klebsiella pneumonia ameliorates ISO RGD:737014 D RGD:9068941 20210409 RGD PMID:19342674|REF_RGD_ID:126725085 11908284 LCN2 lipocalin 2 gene DOID:13272 Klebsiella pneumonia exacerbates ISO RGD:69454 D RGD:9068941 20210409 RGD PMID:19342674|PMID:25234944|PMID:29633303|REF_RGD_ID:126725082|REF_RGD_ID:126725084|REF_RGD_ID:126725085 11908284 LCN2 lipocalin 2 gene DOID:14262 oral candidiasis ISO RGD:69454 D RGD:9068941 20210409 RGD mRNA:increased expression:tongues: PMID:24343647|REF_RGD_ID:126725083 11908284 LCN2 lipocalin 2 gene DOID:14262 oral candidiasis no_association ISO RGD:69454 D RGD:9068941 20210409 RGD PMID:24343647|REF_RGD_ID:126725083 11908284 LCN2 lipocalin 2 gene DOID:14566 disease of cellular proliferation ISO RGD:69453 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17114340 11908284 LCN2 lipocalin 2 gene DOID:1591 renovascular hypertension ISO RGD:69453 D RGD:9068941 20200609 RGD protein:increased expression:urine,plasma PMID:22923545|REF_RGD_ID:7245500 11908284 LCN2 lipocalin 2 gene DOID:182 calcinosis ISO RGD:69453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11908284 LCN2 lipocalin 2 gene DOID:1920 hyperuricemia ISO RGD:69453 D RGD:9068941 20200609 RGD PMID:23673972|REF_RGD_ID:7244371 11908284 LCN2 lipocalin 2 gene DOID:219 colon cancer treatment ISO RGD:69408 D RGD:9068941 20200609 RGD PMID:20043115|REF_RGD_ID:2316492 11908284 LCN2 lipocalin 2 gene DOID:224 transient cerebral ischemia ISO RGD:69408 D RGD:9068941 20210423 RGD PMID:24916903|REF_RGD_ID:126790489 11908284 LCN2 lipocalin 2 gene DOID:224 transient cerebral ischemia ISO RGD:69408 D RGD:9068941 20210423 RGD protein:increased expression:brain PMID:29122651|REF_RGD_ID:126781757 11908284 LCN2 lipocalin 2 gene DOID:2280 hidradenitis suppurativa disease_progression ISO RGD:69453 D RGD:9068941 20210416 RGD PMID:28256718|REF_RGD_ID:126781708 11908284 LCN2 lipocalin 2 gene DOID:2365 West Nile encephalitis ISO RGD:69454 D RGD:9068941 20210423 RGD mRNA,protein:increased expression:brain PMID:24173226|REF_RGD_ID:126781836 11908284 LCN2 lipocalin 2 gene DOID:2773 contact dermatitis ISO RGD:69453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11908284 LCN2 lipocalin 2 gene DOID:2957 pulmonary tuberculosis disease_progression ISO RGD:69454 D RGD:9068941 20210409 RGD PMID:30534124|REF_RGD_ID:126779565 11908284 LCN2 lipocalin 2 gene DOID:2957 pulmonary tuberculosis exacerbates ISO RGD:69454 D RGD:9068941 20210409 RGD PMID:19050270|REF_RGD_ID:126779558 11908284 LCN2 lipocalin 2 gene DOID:2986 IgA glomerulonephritis ISO RGD:69453 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:21467131|REF_RGD_ID:7245983 11908284 LCN2 lipocalin 2 gene DOID:3021 acute kidney failure ISO RGD:69408 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:23683031|REF_RGD_ID:7244370 11908284 LCN2 lipocalin 2 gene DOID:3021 acute kidney failure ISO RGD:69453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750|PMID:22005293|PMID:23052191|PMID:27888128|PMID:28885000 11908284 LCN2 lipocalin 2 gene DOID:3021 acute kidney failure ISO RGD:69453 D RGD:9068941 20210409 RGD associated with open cardiac surgeries;protein:increased expression:urine: PMID:28411423|REF_RGD_ID:125973912 11908284 LCN2 lipocalin 2 gene DOID:3021 acute kidney failure ISO RGD:69453 D RGD:9068941 20210416 RGD protein:increased expression:urine PMID:23336369|REF_RGD_ID:126781714 11908284 LCN2 lipocalin 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:69408 D RGD:9068941 20210423 RGD protein:increased expression:spinal cord PMID:23431168|REF_RGD_ID:126781758 11908284 LCN2 lipocalin 2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:69408 D RGD:9068941 20210430 RGD mRNA:decreased expression:lung PMID:27592368|REF_RGD_ID:126790533 11908284 LCN2 lipocalin 2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:69453 D RGD:9068941 20210430 RGD protein:decreased expression:amniotic fluid PMID:27592368|REF_RGD_ID:126790533 11908284 LCN2 lipocalin 2 gene DOID:4079 heart valve disease ISO RGD:69453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11908284 LCN2 lipocalin 2 gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:69453 D RGD:9068941 20210423 RGD Protein:increased expression:bile duct PMID:24939880|REF_RGD_ID:126790491 11908284 LCN2 lipocalin 2 gene DOID:4928 intrahepatic cholangiocarcinoma treatment ISO RGD:69408 D RGD:9068941 20210423 RGD PMID:24939880|REF_RGD_ID:126790491 11908284 LCN2 lipocalin 2 gene DOID:552 pneumonia exacerbates ISO RGD:69454 D RGD:9068941 20210409 RGD associated with Escherichia Coli Infections PMID:20633248|REF_RGD_ID:126779583 11908284 LCN2 lipocalin 2 gene DOID:557 kidney disease ISO RGD:69453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19349640|PMID:20181666|PMID:20438795|PMID:27026710 11908284 LCN2 lipocalin 2 gene DOID:557 kidney disease disease_progression ISO RGD:69453 D RGD:9068941 20200609 RGD associated with Antineutrophil Cytoplasmic Antibody-associated Vasculitis; PMID:23547217|REF_RGD_ID:7244373 11908284 LCN2 lipocalin 2 gene DOID:5844 myocardial infarction ameliorates ISO RGD:69454 D RGD:9068941 20210430 RGD PMID:27800610|REF_RGD_ID:126790572 11908284 LCN2 lipocalin 2 gene DOID:630 genetic disease ISO RGD:69453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908284 LCN2 lipocalin 2 gene DOID:6432 pulmonary hypertension ISO RGD:69408 D RGD:9068941 20210423 RGD mRNA,protein:increased expression:lung PMID:25076856|REF_RGD_ID:126781744 11908284 LCN2 lipocalin 2 gene DOID:6432 pulmonary hypertension ISO RGD:69453 D RGD:9068941 20210423 RGD associated with congenital heart disease; protein:increased expression:plasma PMID:25076856|REF_RGD_ID:126781744 11908284 LCN2 lipocalin 2 gene DOID:7148 rheumatoid arthritis ISO RGD:69453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7554268 11908284 LCN2 lipocalin 2 gene DOID:783 end stage renal disease onset ISO RGD:69453 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:22542304|REF_RGD_ID:7245503 11908284 LCN2 lipocalin 2 gene DOID:784 chronic kidney disease ISO RGD:69453 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:24714768|PMID:33052911 11908284 LCN2 lipocalin 2 gene DOID:784 chronic kidney disease disease_progression ISO RGD:69454 D RGD:9068941 20210423 RGD PMID:20921623|REF_RGD_ID:126781837 11908284 LCN2 lipocalin 2 gene DOID:820 myocarditis ISO RGD:69408 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (rat) PMID:20057160|REF_RGD_ID:2316490 11908284 LCN2 lipocalin 2 gene DOID:8466 retinal degeneration ameliorates ISO RGD:69408 D RGD:9068941 20210423 RGD PMID:30574656|REF_RGD_ID:126781752 11908284 LCN2 lipocalin 2 gene DOID:8466 retinal degeneration exacerbates ISO RGD:69408 D RGD:9068941 20210423 RGD PMID:30574656|REF_RGD_ID:126781752 11908284 LCN2 lipocalin 2 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:69453 D RGD:9068941 20210430 RGD protein:increased expression:serum, urine PMID:22258321|REF_RGD_ID:126790531 11908284 LCN2 lipocalin 2 gene DOID:898 autosomal dominant polycystic kidney disease disease_progression ISO RGD:69453 D RGD:9068941 20210423 RGD PMID:20921623|REF_RGD_ID:126781837 11908284 LCN2 lipocalin 2 gene DOID:9000109 Haemophilus Infections ISO RGD:69454 D RGD:9068941 20210416 RGD mRNA,protein:increased expression:respiratory epithelium, olfactory mucosa epithelium PMID:16153241|REF_RGD_ID:126781709 11908284 LCN2 lipocalin 2 gene DOID:9000325 Abscess ISO RGD:69408 D RGD:9068941 20210423 RGD mRNA,Protein:increased expression:kidney, liver, serum PMID:22249220|REF_RGD_ID:126781756 11908284 LCN2 lipocalin 2 gene DOID:9000438 Subarachnoid Hemorrhage ameliorates ISO RGD:69454 D RGD:9068941 20210423 RGD PMID:26463936|REF_RGD_ID:126781835 11908284 LCN2 lipocalin 2 gene DOID:9000722 Animal Hepatitis ISO RGD:69453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18559427 11908284 LCN2 lipocalin 2 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:69408 D RGD:9068941 20210430 RGD mRNA,protein:increased expression:liver, heart, kidney,spleen, serum, PMID:23331620|REF_RGD_ID:126790570 11908284 LCN2 lipocalin 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:69453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24570342 11908284 LCN2 lipocalin 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 11908284 LCN2 lipocalin 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69408 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:22997966|REF_RGD_ID:7245497 11908284 LCN2 lipocalin 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69453 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus,Type 2;protein:increased expression:urine: PMID:22015481|REF_RGD_ID:7245960 11908284 LCN2 lipocalin 2 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:69408 D RGD:9068941 20210423 RGD PMID:23416150|REF_RGD_ID:126790480 11908284 LCN2 lipocalin 2 gene DOID:9002953 Escherichia Coli Infections ISO RGD:69454 D RGD:9068941 20210409 RGD protein:increased expression:serum PMID:25234944|REF_RGD_ID:126725084 11908284 LCN2 lipocalin 2 gene DOID:9002953 Escherichia Coli Infections exacerbates ISO RGD:69454 D RGD:9068941 20210409 RGD PMID:16446425|PMID:25234944|REF_RGD_ID:126725084|REF_RGD_ID:126779557 11908284 LCN2 lipocalin 2 gene DOID:9004484 Sepsis exacerbates ISO RGD:69454 D RGD:9068941 20210416 RGD PMID:22786765|REF_RGD_ID:126781712 11908284 LCN2 lipocalin 2 gene DOID:9005372 Inflammation ISO RGD:69453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20118187 11908284 LCN2 lipocalin 2 gene DOID:9005465 Renal Ischemia ISO RGD:69454 D RGD:9068941 20210430 RGD protein:increased expression:urine PMID:27800610|REF_RGD_ID:126790572 11908284 LCN2 lipocalin 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69408 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (rat) PMID:15623795|REF_RGD_ID:2316515 11908284 LCN2 lipocalin 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69408 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:23085980|REF_RGD_ID:7245484 11908284 LCN2 lipocalin 2 gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:69408 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:urine PMID:23085980|REF_RGD_ID:7245484 11908284 LCN2 lipocalin 2 gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:69408 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:23335628|REF_RGD_ID:7245471 11908284 LCN2 lipocalin 2 gene DOID:9005930 Endotoxemia ISO RGD:69454 D RGD:9068941 20210409 RGD mRNA:increased expression:brain,liver PMID:21943033|REF_RGD_ID:126779582 11908284 LCN2 lipocalin 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:69408 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:23364806|REF_RGD_ID:7245469 11908284 LCN2 lipocalin 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:69453 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:23085062|REF_RGD_ID:7245489 11908284 LCN2 lipocalin 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:69454 D RGD:9068941 20210409 RGD mRNA,protein:increased expression:kidney: PMID:20181666|REF_RGD_ID:126779563 11908284 LCN2 lipocalin 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:69454 D RGD:9068941 20210430 RGD mRNA,protein:increased expression:kidney,urine PMID:27800610|REF_RGD_ID:126790572 11908284 LCN2 lipocalin 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:69453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 11908284 LCN2 lipocalin 2 gene DOID:9006844 Streptococcal Infections ISO RGD:69454 D RGD:9068941 20210416 RGD mRNA,protein:increased expression:respiratory epithelium, olfactory mucosa epithelium PMID:16153241|REF_RGD_ID:126781709 11908284 LCN2 lipocalin 2 gene DOID:9007096 Stroke ISO RGD:69453 D RGD:9068941 20210423 RGD protein:increased expression:brain, neuron PMID:24916903|REF_RGD_ID:126790489 11908284 LCN2 lipocalin 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:69453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20362651|PMID:20623750 11908284 LCN2 lipocalin 2 gene DOID:9008114 Helicobacter Infections ISO RGD:69453 D RGD:9068941 20210416 RGD protein:increased expression:gastric mucosa PMID:19727808|REF_RGD_ID:126781713 11908284 LCN2 lipocalin 2 gene DOID:9008527 Chlamydophila Infections exacerbates ISO RGD:69454 D RGD:9068941 20210416 RGD PMID:23317919|REF_RGD_ID:126781720 11908284 LCN2 lipocalin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69453 D RGD:9068941 20210416 RGD protein:increased expression:serum: PMID:19949414|REF_RGD_ID:126779589 11908284 LCN2 lipocalin 2 gene DOID:9970 obesity ISO RGD:69408 D RGD:9068941 20200609 RGD mRNA:increased expression:epididymal fat pad, adipose cell (rat) PMID:18292240|REF_RGD_ID:2316514 11908284 LCN2 lipocalin 2 gene DOID:9970 obesity ISO RGD:69408 D RGD:9068941 20210423 RGD mRNA:decreased expression:ovary, testicle PMID:32627017|REF_RGD_ID:126790490 11908284 LCN2 lipocalin 2 gene DOID:9970 obesity ISO RGD:69453 D RGD:9068941 20210430 RGD protein:increased expression:serum PMID:21143924|REF_RGD_ID:126790530 11908303 TNFRSF10B TNF receptor superfamily member 10b gene DOID:1793 pancreatic cancer ISO RGD:1346665 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18089714 11908303 TNFRSF10B TNF receptor superfamily member 10b gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1346665 D RGD:7240710 20180130 OMIM 11908303 TNFRSF10B TNF receptor superfamily member 10b gene DOID:630 genetic disease ISO RGD:1346665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908303 TNFRSF10B TNF receptor superfamily member 10b gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1346665 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18079962 11908303 TNFRSF10B TNF receptor superfamily member 10b gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1346665 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 11908327 UBXN11 UBX domain protein 11 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:737092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 11908327 UBXN11 UBX domain protein 11 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:737092 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 11908327 UBXN11 UBX domain protein 11 gene DOID:1324 lung cancer ISO RGD:737092 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 11908327 UBXN11 UBX domain protein 11 gene DOID:5409 lung small cell carcinoma ISO RGD:737092 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 11908327 UBXN11 UBX domain protein 11 gene DOID:630 genetic disease ISO RGD:737092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908327 UBXN11 UBX domain protein 11 gene DOID:684 hepatocellular carcinoma ISO RGD:737092 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 11908378 KCNK3 potassium two pore domain channel subfamily K member 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1345497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11908378 KCNK3 potassium two pore domain channel subfamily K member 3 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1345497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11908378 KCNK3 potassium two pore domain channel subfamily K member 3 gene DOID:14557 primary pulmonary hypertension ISO RGD:1345497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11908378 KCNK3 potassium two pore domain channel subfamily K member 3 gene DOID:1824 status epilepticus ISO RGD:61997 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus, astrocyte PMID:18671295|REF_RGD_ID:2316522 11908378 KCNK3 potassium two pore domain channel subfamily K member 3 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:61997 D RGD:9068941 20200903 RGD PMID:32209028|REF_RGD_ID:38549370 11908378 KCNK3 potassium two pore domain channel subfamily K member 3 gene DOID:630 genetic disease ISO RGD:1345497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11908378 KCNK3 potassium two pore domain channel subfamily K member 3 gene DOID:6432 pulmonary hypertension ISO RGD:1345497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30365877 11908378 KCNK3 potassium two pore domain channel subfamily K member 3 gene DOID:6432 pulmonary hypertension severity ISO XCO:0000642 D RGD:9068941 20220204 RGD PMID:31347976|REF_RGD_ID:151347452 11908378 KCNK3 potassium two pore domain channel subfamily K member 3 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1345497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 11908378 KCNK3 potassium two pore domain channel subfamily K member 3 gene DOID:9006572 Primary Pulmonary Hypertension, 4 ISO RGD:1345497 D RGD:7240710 20180130 OMIM 11908378 KCNK3 potassium two pore domain channel subfamily K member 3 gene DOID:9006572 Primary Pulmonary Hypertension, 4 ISO RGD:1345497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 4 PMID:23883380|PMID:24033266|PMID:25741868|PMID:26387786|PMID:28492532|PMID:28889099|PMID:29743074|PMID:30578397 11908378 KCNK3 potassium two pore domain channel subfamily K member 3 gene DOID:9007096 Stroke ISO RGD:1345497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 11908378 KCNK3 potassium two pore domain channel subfamily K member 3 gene DOID:9007402 Gliosis ISO RGD:1345497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18671295 11908378 KCNK3 potassium two pore domain channel subfamily K member 3 gene DOID:9008681 Deafness ISO RGD:61997 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain, neuron PMID:17884299|REF_RGD_ID:2316516 11908378 KCNK3 potassium two pore domain channel subfamily K member 3 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1345497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:23883380 11908383 CLUAP1 clusterin associated protein 1 gene DOID:0050777 Joubert syndrome ISO RGD:1354421 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532|PMID:28679688 11908383 CLUAP1 clusterin associated protein 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1354421 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11908383 CLUAP1 clusterin associated protein 1 gene DOID:0111705 oculoectodermal syndrome ISO RGD:1354421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome PMID:26820066 11908383 CLUAP1 clusterin associated protein 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1354421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:26820066 11908383 CLUAP1 clusterin associated protein 1 gene DOID:1826 epilepsy ISO RGD:1354421 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11908383 CLUAP1 clusterin associated protein 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1354421 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11908383 CLUAP1 clusterin associated protein 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1354421 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 11908383 CLUAP1 clusterin associated protein 1 gene DOID:630 genetic disease ISO RGD:1354421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11908412 VGLL1 vestigial like family member 1 gene DOID:0060022 CD40 ligand deficiency ISO RGD:1352400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11908412 VGLL1 vestigial like family member 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11908412 VGLL1 vestigial like family member 1 gene DOID:0060825 Christianson syndrome ISO RGD:1352400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11908412 VGLL1 vestigial like family member 1 gene DOID:12849 autistic disorder ISO RGD:1352400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11908412 VGLL1 vestigial like family member 1 gene DOID:630 genetic disease ISO RGD:1352400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908412 VGLL1 vestigial like family member 1 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1352400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11908412 VGLL1 vestigial like family member 1 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1352400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Visceral heterotaxia PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11908412 VGLL1 vestigial like family member 1 gene DOID:9007823 Chromosome Xq26.3 Duplication Syndrome ISO RGD:1352400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome PMID:25712922|PMID:26935837 11908427 LRRC25 leucine rich repeat containing 25 gene DOID:630 genetic disease ISO RGD:1352396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908427 LRRC25 leucine rich repeat containing 25 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1352396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11908437 ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1313025 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 11908437 ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:0050768 mitochondrial complex V (ATP synthase) deficiency nuclear type 1 ISO RGD:1313025 D RGD:7240710 20180130 OMIM 11908437 ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:0050768 mitochondrial complex V (ATP synthase) deficiency nuclear type 1 ISO RGD:1313025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 PMID:14757859|PMID:16199547|PMID:25741868|PMID:28492532|PMID:34440436 11908437 ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:0050777 Joubert syndrome ISO RGD:1313025 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11908437 ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1313025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 11908437 ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1313025 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 11908437 ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:10907 microcephaly ISO RGD:1313025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11908437 ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:12849 autistic disorder ISO RGD:1313025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11908437 ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:630 genetic disease ISO RGD:1313025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11908450 SMURF2 SMAD specific E3 ubiquitin protein ligase 2 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1552490 D RGD:9068941 20220825 MouseDO 11908450 SMURF2 SMAD specific E3 ubiquitin protein ligase 2 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1345810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 11908450 SMURF2 SMAD specific E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:1345810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908475 RSPH1 radial spoke head component 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1317061 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:23993197|PMID:24033266|PMID:24518672|PMID:24568568|PMID:25741868|PMID:25789548|PMID:26139845|PMID:28492532 11908475 RSPH1 radial spoke head component 1 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1317061 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs2839531) T>C (human) PMID:27354594|REF_RGD_ID:152177496 11908475 RSPH1 radial spoke head component 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1317061 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11908475 RSPH1 radial spoke head component 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:1317061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11908475 RSPH1 radial spoke head component 1 gene DOID:0110628 primary ciliary dyskinesia 24 ISO RGD:1317061 D RGD:7240710 20180130 OMIM 11908475 RSPH1 radial spoke head component 1 gene DOID:0110628 primary ciliary dyskinesia 24 ISO RGD:1317061 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 24 PMID:17576681|PMID:23993197|PMID:24033266|PMID:24518672|PMID:24568568|PMID:25741868|PMID:25789548|PMID:26139845|PMID:28492532|PMID:31772028|PMID:9536098 11908475 RSPH1 radial spoke head component 1 gene DOID:630 genetic disease ISO RGD:1317061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11908475 RSPH1 radial spoke head component 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1317061 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11908475 RSPH1 radial spoke head component 1 gene DOID:9263 homocystinuria ISO RGD:1317061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11908475 RSPH1 radial spoke head component 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317061 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:23993197|PMID:24033266|PMID:24518672|PMID:24568568|PMID:25741868|PMID:25789548|PMID:26139845|PMID:28492532|PMID:31772028|PMID:9536098 11908488 SLC7A8 solute carrier family 7 member 8 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1345085 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11908488 SLC7A8 solute carrier family 7 member 8 gene DOID:10003 sensorineural hearing loss ISO RGD:733687 D RGD:9068941 20220825 MouseDO OMIM:304400 11908488 SLC7A8 solute carrier family 7 member 8 gene DOID:289 endometriosis ISO RGD:1345085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11908488 SLC7A8 solute carrier family 7 member 8 gene DOID:630 genetic disease ISO RGD:1345085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908488 SLC7A8 solute carrier family 7 member 8 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1345085 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 11908488 SLC7A8 solute carrier family 7 member 8 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1345085 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11908488 SLC7A8 solute carrier family 7 member 8 gene DOID:9007661 Dwarfism ISO RGD:1345085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11908509 LOC100980742 putative uncharacterized protein encoded by LINC01599 gene DOID:0050574 L-2-hydroxyglutaric aciduria ISO RGD:1602424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria PMID:15385440 11908509 LOC100980742 putative uncharacterized protein encoded by LINC01599 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1602424 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11908517 PRSS47P Putative serine protease 47 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:9586643 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 11908517 PRSS47P Putative serine protease 47 gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:9586643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 11908517 PRSS47P Putative serine protease 47 gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:9586643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 11908518 HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1605973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11908518 HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:0111077 pyruvate kinase deficiency of red cells ISO RGD:1605973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells 11908518 HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1605973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11908518 HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11908518 HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11908518 HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:14330 Parkinson's disease ISO RGD:620691 D RGD:9068941 20200609 RGD mRNA:increased expression:neuron: PMID:19320057|REF_RGD_ID:9693679 11908518 HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1605973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11908518 HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:5812 MHC class II deficiency ISO RGD:1605973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11908518 HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:630 genetic disease ISO RGD:1605973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908518 HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:9000930 Dental Pulp Exposure ISO RGD:620691 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:17645513|REF_RGD_ID:9686147 11908518 HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620691 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:19815055|REF_RGD_ID:9693680 11908518 HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11908540 TFF3 trefoil factor 3 gene DOID:0060071 pre-malignant neoplasm ISO RGD:3847 D RGD:9068941 20200609 RGD protein:decreased expression:colon PMID:17847023|REF_RGD_ID:7349371 11908540 TFF3 trefoil factor 3 gene DOID:0080178 mucositis ISO RGD:736458 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19636011 11908540 TFF3 trefoil factor 3 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:11407 D RGD:9068941 20200609 RGD PMID:31211621|REF_RGD_ID:14747028 11908540 TFF3 trefoil factor 3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:736458 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11908540 TFF3 trefoil factor 3 gene DOID:0110266 cataract 9 multiple types ISO RGD:736458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11908540 TFF3 trefoil factor 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:736458 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16467092|REF_RGD_ID:2291999 11908540 TFF3 trefoil factor 3 gene DOID:219 colon cancer ISO RGD:3847 D RGD:9068941 20200609 RGD protein:decreased expression:colon PMID:17847023|REF_RGD_ID:7349371 11908540 TFF3 trefoil factor 3 gene DOID:3021 acute kidney failure ISO RGD:736458 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23052191 11908540 TFF3 trefoil factor 3 gene DOID:557 kidney disease ISO RGD:736458 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24863737 11908540 TFF3 trefoil factor 3 gene DOID:630 genetic disease ISO RGD:736458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908540 TFF3 trefoil factor 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:736458 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11908540 TFF3 trefoil factor 3 gene DOID:9000156 Metaplasia ISO RGD:736458 D RGD:9068941 20200609 RGD associated with Duodenal Diseases PMID:12612884|REF_RGD_ID:7364761 11908540 TFF3 trefoil factor 3 gene DOID:9000722 Animal Hepatitis ISO RGD:736458 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18559427 11908540 TFF3 trefoil factor 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3847 D RGD:9068941 20200609 RGD PMID:19287349|REF_RGD_ID:7349369 11908540 TFF3 trefoil factor 3 gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:11407 D RGD:9068941 20200828 RGD mRNA:altered expression:gastric antrum (mouse) PMID:29085807|REF_RGD_ID:38549349 11908540 TFF3 trefoil factor 3 gene DOID:9263 homocystinuria ISO RGD:736458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11908540 TFF3 trefoil factor 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:736458 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11908540 Tff3 trefoil factor 3, intestinal gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:11407 D RGD:9068941 20200609 RGD PMID:31211621|REF_RGD_ID:14747028 11908547 LRP8 LDL receptor related protein 8 gene DOID:0060903 thrombosis ISO RGD:1313933 D RGD:9068941 20200609 RGD associated with Antiphospholipid Syndrome PMID:21119114|REF_RGD_ID:6483062 11908547 LRP8 LDL receptor related protein 8 gene DOID:10652 Alzheimer's disease ISO RGD:1313932 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:2622T>C (human) PMID:12399018|REF_RGD_ID:6483064 11908547 LRP8 LDL receptor related protein 8 gene DOID:10652 Alzheimer's disease no_association ISO RGD:1313932 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple PMID:20208369|REF_RGD_ID:6483065 11908547 LRP8 LDL receptor related protein 8 gene DOID:1307 dementia ISO RGD:1313932 D RGD:9068941 20200609 RGD DNA:mutation: :p.R952Q (human) PMID:17614163|REF_RGD_ID:6483063 11908547 LRP8 LDL receptor related protein 8 gene DOID:3393 coronary artery disease no_association ISO RGD:1313932 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R952Q (human) PMID:18592168|REF_RGD_ID:2306125 11908547 LRP8 LDL receptor related protein 8 gene DOID:3393 coronary artery disease onset ISO RGD:1313932 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R952Q (human) PMID:17847002|REF_RGD_ID:2306124 11908547 LRP8 LDL receptor related protein 8 gene DOID:5419 schizophrenia ISO RGD:1313932 D RGD:9068941 20200609 RGD DNA:SNP, missense mutation:exon, cds: (rs2297660, rs3737983) (human) PMID:22419519|REF_RGD_ID:6483059 11908547 LRP8 LDL receptor related protein 8 gene DOID:5844 myocardial infarction ISO RGD:1313932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1 PMID:17847002 11908547 LRP8 LDL receptor related protein 8 gene DOID:5844 myocardial infarction no_association ISO RGD:1313932 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R952Q (human) PMID:18592168|REF_RGD_ID:2306125 11908547 LRP8 LDL receptor related protein 8 gene DOID:5844 myocardial infarction onset ISO RGD:1313932 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R952Q (human) PMID:17847002|REF_RGD_ID:2306124 11908547 LRP8 LDL receptor related protein 8 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1313932 D RGD:7240710 20190502 OMIM 11908547 LRP8 LDL receptor related protein 8 gene DOID:630 genetic disease ISO RGD:1313932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908547 LRP8 LDL receptor related protein 8 gene DOID:9002955 Nerve Degeneration ISO RGD:1313932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18172410 11908585 SIL1 SIL1 nucleotide exchange factor gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1605350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11908585 SIL1 SIL1 nucleotide exchange factor gene DOID:0080195 Marinesco-Sjogren syndrome ISO RGD:1605350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marinesco-Sjögren syndrome PMID:10665502|PMID:12692552|PMID:16199547|PMID:16282977|PMID:16282978|PMID:17026626|PMID:17309654|PMID:17576681|PMID:18285827|PMID:19471582|PMID:20111056|PMID:21873089|PMID:22995991|PMID:23062754|PMID:23829326|PMID:24176978|PMID:24473200|PMID:24631270|PMID:24755310|PMID:25741868|PMID:26467025|PMID:26733775|PMID:28492532|PMID:31130284|PMID:31258504|PMID:32502767|PMID:32552793|PMID:33250842|PMID:9536098 11908585 SIL1 SIL1 nucleotide exchange factor gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605350 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11908585 SIL1 SIL1 nucleotide exchange factor gene DOID:0080600 COVID-19 ISO RGD:1605350 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11908585 SIL1 SIL1 nucleotide exchange factor gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1605350 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 11908585 SIL1 SIL1 nucleotide exchange factor gene DOID:0112056 X-linked intellectual disability-short stature-overweight syndrome ISO RGD:1605350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability-short stature-overweight syndrome PMID:19471582|PMID:22995991|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31258504|PMID:33250842 11908585 SIL1 SIL1 nucleotide exchange factor gene DOID:630 genetic disease ISO RGD:1605350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 11908585 SIL1 SIL1 nucleotide exchange factor gene DOID:83 cataract ISO RGD:1605350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract PMID:32581362 11908585 SIL1 SIL1 nucleotide exchange factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605350 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11908585 SIL1 SIL1 nucleotide exchange factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11908585 SIL1 SIL1 nucleotide exchange factor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605350 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11908585 SIL1 SIL1 nucleotide exchange factor gene DOID:9008086 Developmental Disabilities ISO RGD:1605350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:32581362 11908585 SIL1 SIL1 nucleotide exchange factor gene DOID:9277 primary cerebellar degeneration ISO RGD:1605350 D RGD:7240710 20180130 OMIM 11908604 ZNF461 zinc finger protein 461 gene DOID:630 genetic disease ISO RGD:1601731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908623 SPRED2 sprouty related EVH1 domain containing 2 gene DOID:10652 Alzheimer's disease ISO RGD:1319580 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33589840 11908623 SPRED2 sprouty related EVH1 domain containing 2 gene DOID:3490 Noonan syndrome ISO RGD:1319580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome PMID:25741868|PMID:34626534 11908623 SPRED2 sprouty related EVH1 domain containing 2 gene DOID:4480 achondroplasia ISO RGD:1319581 D RGD:9068941 20220825 MouseDO OMIM:100800 11908623 SPRED2 sprouty related EVH1 domain containing 2 gene DOID:630 genetic disease ISO RGD:1319580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908623 SPRED2 sprouty related EVH1 domain containing 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1319580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 11908623 SPRED2 sprouty related EVH1 domain containing 2 gene DOID:9001824 Noonan Syndrome 14 ISO RGD:1319580 D RGD:7240710 20220223 OMIM 11908623 SPRED2 sprouty related EVH1 domain containing 2 gene DOID:9001824 Noonan Syndrome 14 ISO RGD:1319580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 14 PMID:25741868|PMID:34626534 11908636 CCNA2 cyclin A2 gene DOID:0080600 COVID-19 ISO RGD:1348754 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11908636 CCNA2 cyclin A2 gene DOID:1059 intellectual disability ISO RGD:1348754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11908636 CCNA2 cyclin A2 gene DOID:3308 embryonal carcinoma ISO RGD:1348754 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:14696091|REF_RGD_ID:2293346 11908636 CCNA2 cyclin A2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1348754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29464035 11908636 CCNA2 cyclin A2 gene DOID:5844 myocardial infarction ISO RGD:621059 D RGD:9068941 20200609 RGD protein:increased expression:cardiomyocyte: PMID:23634243|REF_RGD_ID:10054471 11908636 CCNA2 cyclin A2 gene DOID:6000 congestive heart failure ISO RGD:1550849 D RGD:9068941 20200609 RGD PMID:16820573|REF_RGD_ID:2293348 11908636 CCNA2 cyclin A2 gene DOID:630 genetic disease ISO RGD:1348754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908636 CCNA2 cyclin A2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348754 D RGD:9068941 20200609 RGD associated with Seminoma;protein:increased expression:testis PMID:14696091|REF_RGD_ID:2293346 11908636 CCNA2 cyclin A2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11908636 CCNA2 cyclin A2 gene DOID:9002304 Prostatic Neoplasms severity ISO RGD:1550849 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:16452231|REF_RGD_ID:2293344 11908636 CCNA2 cyclin A2 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1348754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 11908636 CCNA2 cyclin A2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11908636 CCNA2 cyclin A2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1550849 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland PMID:10713672|REF_RGD_ID:2293347 11908636 CCNA2 cyclin A2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621059 D RGD:9068941 20200609 RGD PMID:20031167|REF_RGD_ID:2316310 11908636 CCNA2 cyclin A2 gene DOID:9006182 Carotid Artery Injuries ISO RGD:621059 D RGD:9068941 20200609 RGD mRNA:increased expression:artery: PMID:18667424|REF_RGD_ID:10054494 11908636 CCNA2 cyclin A2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1550849 D RGD:9068941 20200609 RGD PMID:17382628|REF_RGD_ID:10054468 11908648 BEX3 brain expressed X-linked 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11908648 BEX3 brain expressed X-linked 3 gene DOID:11832 visual epilepsy treatment ISO RGD:3148 D RGD:9068941 20200609 RGD PMID:12873743|REF_RGD_ID:9743975 11908648 BEX3 brain expressed X-linked 3 gene DOID:12849 autistic disorder ISO RGD:735398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11908648 BEX3 brain expressed X-linked 3 gene DOID:1686 glaucoma ISO RGD:3148 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina PMID:19682984|REF_RGD_ID:9743977 11908648 BEX3 brain expressed X-linked 3 gene DOID:224 transient cerebral ischemia ISO RGD:3148 D RGD:9068941 20200609 RGD PMID:11124986|REF_RGD_ID:9743974 11908648 BEX3 brain expressed X-linked 3 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:735398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:31690835 11908648 BEX3 brain expressed X-linked 3 gene DOID:9008086 Developmental Disabilities ISO RGD:735398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11908671 NUP98 nucleoporin 98 and 96 precursor gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11908671 NUP98 nucleoporin 98 and 96 precursor gene DOID:0080773 delta beta-thalassemia ISO RGD:733793 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11908671 NUP98 nucleoporin 98 and 96 precursor gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11908671 NUP98 nucleoporin 98 and 96 precursor gene DOID:10487 Hirschsprung's disease ISO RGD:733793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 11908671 NUP98 nucleoporin 98 and 96 precursor gene DOID:1227 neutropenia ISO RGD:733793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 11908671 NUP98 nucleoporin 98 and 96 precursor gene DOID:2355 anemia ISO RGD:733793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 11908671 NUP98 nucleoporin 98 and 96 precursor gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:733793 D RGD:9068941 20200609 RGD DNA:translocation:cds: (human) PMID:10477737|REF_RGD_ID:9693698 11908671 NUP98 nucleoporin 98 and 96 precursor gene DOID:614 lymphopenia ISO RGD:733793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 11908671 NUP98 nucleoporin 98 and 96 precursor gene DOID:630 genetic disease ISO RGD:733793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908671 NUP98 nucleoporin 98 and 96 precursor gene DOID:9000647 Acute Erythroleukemia ISO RGD:733793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926971 11908671 NUP98 nucleoporin 98 and 96 precursor gene DOID:9119 acute myeloid leukemia ISO RGD:733793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21441929 11908708 ADGRB3 adhesion G protein-coupled receptor B3 gene DOID:630 genetic disease ISO RGD:1320187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908708 ADGRB3 adhesion G protein-coupled receptor B3 gene DOID:9007661 Dwarfism ISO RGD:1320187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11908752 ZP1 zona pellucida glycoprotein 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1347809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11908752 ZP1 zona pellucida glycoprotein 1 gene DOID:1059 intellectual disability ISO RGD:1347809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11908752 ZP1 zona pellucida glycoprotein 1 gene DOID:630 genetic disease ISO RGD:1347809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908752 ZP1 zona pellucida glycoprotein 1 gene DOID:9005770 Oocyte Maturation Defect 3 ISO RGD:1347809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 3 PMID:25741868 11908752 ZP1 zona pellucida glycoprotein 1 gene DOID:9006513 Oocyte Maturation Defect 1 ISO RGD:1347809 D RGD:7240710 20180130 OMIM 11908752 ZP1 zona pellucida glycoprotein 1 gene DOID:9006513 Oocyte Maturation Defect 1 ISO RGD:1347809 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 1 | ClinVar Annotator: match by term: Oocyte maturation defect 1 PMID:24670168|PMID:25741868|PMID:30810869 11908768 GPR158 G protein-coupled receptor 158 gene DOID:630 genetic disease ISO RGD:1314117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908768 GPR158 G protein-coupled receptor 158 gene DOID:684 hepatocellular carcinoma ISO RGD:1314117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11908783 GTF3C2 general transcription factor IIIC subunit 2 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1343562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11908783 GTF3C2 general transcription factor IIIC subunit 2 gene DOID:630 genetic disease ISO RGD:1343562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908819 MCAT malonyl-CoA-acyl carrier protein transacylase gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1607045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11908819 MCAT malonyl-CoA-acyl carrier protein transacylase gene DOID:1059 intellectual disability ISO RGD:1607045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11908819 MCAT malonyl-CoA-acyl carrier protein transacylase gene DOID:630 genetic disease ISO RGD:1607045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908819 MCAT malonyl-CoA-acyl carrier protein transacylase gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1607045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 11908832 BORCS7 BLOC-1 related complex subunit 7 gene DOID:2367 neuroaxonal dystrophy ISO RGD:1623226 D RGD:9068941 20220825 MouseDO 11908832 BORCS7 BLOC-1 related complex subunit 7 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1623226 D RGD:9068941 20220825 MouseDO 11908832 BORCS7 BLOC-1 related complex subunit 7 gene DOID:5419 schizophrenia ISO RGD:1323417 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:27158905 11908832 BORCS7 BLOC-1 related complex subunit 7 gene DOID:630 genetic disease ISO RGD:1323417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908845 TMEM74 transmembrane protein 74 gene DOID:630 genetic disease ISO RGD:1605858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:0050868 hepatocellular adenoma ISO RGD:734104 D RGD:9068941 20200609 RGD PMID:17183066|REF_RGD_ID:14696794 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:0070225 progressive familial intrahepatic cholestasis 5 ISO RGD:734103 D RGD:7240710 20190315 OMIM 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:0070225 progressive familial intrahepatic cholestasis 5 ISO RGD:734103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 5 PMID:11030617|PMID:17681172|PMID:21633855|PMID:24806754|PMID:25741868|PMID:26888176|PMID:28492532|PMID:31201556 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:0070226 progressive familial intrahepatic cholestasis 1 ISO RGD:734103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Byler disease PMID:11030617|PMID:21633855|PMID:26888176|PMID:28492532 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:734103 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:29142166|PMID:32062620 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:734104 D RGD:9068941 20200609 RGD PMID:29743187|REF_RGD_ID:14696797 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:0080208 non-alcoholic fatty liver disease disease_progression ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:23117815|REF_RGD_ID:15045604 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:734104 D RGD:9068941 20200609 RGD DNA:deletion:cds:exon 9 (mouse) PMID:23700488|REF_RGD_ID:14701033 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:30257410|REF_RGD_ID:15090799 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:0080546 non-alcoholic fatty liver severity ISO RGD:734104 D RGD:9068941 20200609 RGD cholic acid fed FXR-/- mouse PMID:12971955|REF_RGD_ID:15045573 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:734103 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:28774887|REF_RGD_ID:15045601 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:liver (rat) treatment with INT-767 PMID:30038487|REF_RGD_ID:15092090 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:10762 portal hypertension treatment ISO RGD:628831 D RGD:9068941 20200609 RGD associated with liver cirrhosis;mRNA:altered expression:liver (rat) PMID:19418582|REF_RGD_ID:15042868 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:10787 premature menopause ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:734103 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver (human) PMID:29968724|REF_RGD_ID:14928336 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:12336 male infertility ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30245210 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:12351 alcoholic hepatitis treatment ISO RGD:628831 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:13580 cholestasis ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum (rat) PMID:30077711|REF_RGD_ID:15045597 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:13580 cholestasis ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22461449|PMID:23178280 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:13580 cholestasis severity ISO RGD:734104 D RGD:9068941 20200609 RGD mutant FXR-/- mouse PMID:12949728|REF_RGD_ID:14701031 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:13580 cholestasis treatment ISO RGD:628831 D RGD:9068941 20200609 RGD PMID:30061734|PMID:30223280|REF_RGD_ID:15045612|REF_RGD_ID:15092071 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:13580 cholestasis treatment ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:liver (rat) PMID:29235094|REF_RGD_ID:15042872 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:13580 cholestasis treatment ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:27090119|REF_RGD_ID:15090804 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:13619 extrahepatic cholestasis ISO RGD:628831 D RGD:9068941 20200609 RGD PMID:14623915|REF_RGD_ID:1625205 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:13619 extrahepatic cholestasis ISO RGD:734103 D RGD:9068941 20200609 RGD human gene in mouse model PMID:22057115|REF_RGD_ID:14928333 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:13619 extrahepatic cholestasis disease_progression ISO RGD:628831 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:29138817|REF_RGD_ID:15042871 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:13619 extrahepatic cholestasis treatment ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:29360226|REF_RGD_ID:14995480 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:1852 intrahepatic cholestasis ISO RGD:628831 D RGD:9068941 20200609 RGD PMID:15644430|REF_RGD_ID:1625202 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:1936 atherosclerosis ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30996006 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:409 liver disease ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22130247 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:24255171|REF_RGD_ID:15090822 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:5082 liver cirrhosis severity ISO RGD:734104 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (mouse) PMID:19418582|REF_RGD_ID:15042868 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:5082 liver cirrhosis treatment ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:altered expression:liver, kidney (rat) PMID:30308196|REF_RGD_ID:15042865 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:630 genetic disease ISO RGD:734103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23811326|PMID:25496033 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:734103 D RGD:9068941 20200609 RGD intestinally expressed human gene in mouse model PMID:24954587|REF_RGD_ID:14928334 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:734103 D RGD:9068941 20200609 RGD mRNA:splice variant(s):liver (human) PMID:23213087|REF_RGD_ID:14928330 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:734104 D RGD:9068941 20200609 RGD PMID:23811326|REF_RGD_ID:14696796 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:734104 D RGD:9068941 20220825 MouseDO OMIM:114550 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:8778 Crohn's disease ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21829567 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30996006 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:628831 D RGD:9068941 20200609 RGD associated with portal hypertension;mRNA;decreased expression;liver (rat) PMID:24259407|REF_RGD_ID:15045598 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:628831 D RGD:9068941 20200609 RGD PMID:27993716|REF_RGD_ID:14701034 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:15980055|REF_RGD_ID:1625201 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9001586 Experimental Liver Neoplasms susceptibility ISO RGD:734104 D RGD:9068941 20200609 RGD PMID:17283114|REF_RGD_ID:14701032 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9002245 Intestinal Neoplasms ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23178280 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9005369 Hepatomegaly ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29142166 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9005372 Inflammation ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29142166 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:15047603|REF_RGD_ID:1625080 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9005749 Necrosis ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30996006 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9006205 Animal Disease Models ISO RGD:734103 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:29142166|PMID:32062620 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9007188 Liver Neoplasms ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23178280|PMID:24091600|PMID:24189133|PMID:29142166|PMID:30556042 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:28827769|REF_RGD_ID:15045609 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12875239 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:628831 D RGD:9068941 20200609 RGD protein:decreased expression:liver (rat) PMID:30068870|REF_RGD_ID:15042870 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:734104 D RGD:9068941 20200609 RGD PMID:22711662|REF_RGD_ID:14701036 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:628831 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:734104 D RGD:9068941 20200609 RGD PMID:20573685|PMID:29091898|REF_RGD_ID:14701035|REF_RGD_ID:15090820 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:734104 D RGD:9068941 20200609 RGD PMID:16557297|REF_RGD_ID:1625076 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9007755 Intestinal Reperfusion Injury disease_progression ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:23331901|REF_RGD_ID:15042883 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9008511 Extravasation of Diagnostic and Therapeutic Materials ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22135065 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9452 fatty liver disease ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29142166 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9452 fatty liver disease severity ISO RGD:734104 D RGD:9068941 20200609 RGD knockout eliminates treatment effectiveness PMID:23104131|REF_RGD_ID:14696795 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9452 fatty liver disease treatment ISO RGD:734104 D RGD:9068941 20200609 RGD PMID:12971955|REF_RGD_ID:15045573 11908851 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9970 obesity disease_progression ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:25612518|REF_RGD_ID:15045599 11908874 CYP2U1 cytochrome P450 family 2 subfamily U member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1319774 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11908874 CYP2U1 cytochrome P450 family 2 subfamily U member 1 gene DOID:0110808 hereditary spastic paraplegia 56 ISO RGD:1319774 D RGD:7240710 20180130 OMIM 11908874 CYP2U1 cytochrome P450 family 2 subfamily U member 1 gene DOID:0110808 hereditary spastic paraplegia 56 ISO RGD:1319774 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 56 PMID:14660610|PMID:23176821|PMID:25558065|PMID:25741868|PMID:26914923|PMID:26936192|PMID:27292318|PMID:28492532|PMID:28600779|PMID:29034544|PMID:32860008|PMID:33107650|PMID:615030 11908874 CYP2U1 cytochrome P450 family 2 subfamily U member 1 gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:1319774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A PMID:25741868 11908874 CYP2U1 cytochrome P450 family 2 subfamily U member 1 gene DOID:1826 epilepsy ISO RGD:1319774 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11908874 CYP2U1 cytochrome P450 family 2 subfamily U member 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1319774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:14660610|PMID:23176821|PMID:25741868|PMID:28492532|PMID:29034544|PMID:33107650 11908874 CYP2U1 cytochrome P450 family 2 subfamily U member 1 gene DOID:607 paraplegia ISO RGD:1319774 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:14660610|PMID:16199547|PMID:23176821|PMID:25558065|PMID:25741868|PMID:26914923|PMID:26936192|PMID:27292318|PMID:28492532|PMID:28600779|PMID:29034544|PMID:33107650|PMID:615030 11908874 CYP2U1 cytochrome P450 family 2 subfamily U member 1 gene DOID:630 genetic disease ISO RGD:1319774 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23176821|PMID:25741868|PMID:26936192|PMID:27292318|PMID:28492532|PMID:33107650 11908874 CYP2U1 cytochrome P450 family 2 subfamily U member 1 gene DOID:9001715 3-Hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:1319774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of 3-hydroxyacyl-CoA dehydrogenase PMID:28492532 11908874 CYP2U1 cytochrome P450 family 2 subfamily U member 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1319774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11908874 CYP2U1 cytochrome P450 family 2 subfamily U member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1319774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:23176821|PMID:25558065|PMID:25741868|PMID:28492532|PMID:28600779|PMID:29034544 11908886 LOC100993710 cytochrome c oxidase assembly protein COX18, mitochondrial gene DOID:10003 sensorineural hearing loss ISO RGD:1604709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 11908886 LOC100993710 cytochrome c oxidase assembly protein COX18, mitochondrial gene DOID:630 genetic disease ISO RGD:1604709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908886 LOC100993710 cytochrome c oxidase assembly protein COX18, mitochondrial gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1604709 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11908911 LOC100995017 XIAP-associated factor 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1606793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11908911 LOC100995017 XIAP-associated factor 1 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1606793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 11908911 LOC100995017 XIAP-associated factor 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1606793 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11908911 LOC100995017 XIAP-associated factor 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1606793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11908911 LOC100995017 XIAP-associated factor 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1606793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11908911 LOC100995017 XIAP-associated factor 1 gene DOID:3070 high grade glioma ISO RGD:1606793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28122345 11908911 LOC100995017 XIAP-associated factor 1 gene DOID:6000 congestive heart failure ISO RGD:1606793 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 11908911 LOC100995017 XIAP-associated factor 1 gene DOID:630 genetic disease ISO RGD:1606793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908911 LOC100995017 XIAP-associated factor 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1606793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17087954 11908911 LOC100995017 XIAP-associated factor 1 gene DOID:9001488 Human Influenza ISO RGD:1606793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11908911 LOC100995017 XIAP-associated factor 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1606793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15843754|PMID:17087954 11908911 LOC100995017 XIAP-associated factor 1 gene DOID:9006205 Animal Disease Models ISO RGD:1606793 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 11908911 LOC100995017 XIAP-associated factor 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1606793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17570219 11908965 CHRM1 cholinergic receptor muscarinic 1 gene DOID:0050214 Lambert-Eaton myasthenic syndrome ISO RGD:731068 D RGD:9068941 20200609 RGD PMID:17764462|REF_RGD_ID:5133415 11908965 CHRM1 cholinergic receptor muscarinic 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:731068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11908965 CHRM1 cholinergic receptor muscarinic 1 gene DOID:1059 intellectual disability ISO RGD:731068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11908965 CHRM1 cholinergic receptor muscarinic 1 gene DOID:1826 epilepsy ISO RGD:731068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18333967 11908965 CHRM1 cholinergic receptor muscarinic 1 gene DOID:2316 brain ischemia ISO RGD:731068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18501976 11908965 CHRM1 cholinergic receptor muscarinic 1 gene DOID:2841 asthma ISO RGD:731068 D RGD:9068941 20200609 RGD PMID:16931638|REF_RGD_ID:5133416 11908965 CHRM1 cholinergic receptor muscarinic 1 gene DOID:437 myasthenia gravis ISO RGD:731068 D RGD:9068941 20200609 RGD PMID:17764462|REF_RGD_ID:5133415 11908965 CHRM1 cholinergic receptor muscarinic 1 gene DOID:630 genetic disease ISO RGD:731068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908965 CHRM1 cholinergic receptor muscarinic 1 gene DOID:9006836 Contracture ISO RGD:731068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures PMID:25741868 11908965 CHRM1 cholinergic receptor muscarinic 1 gene DOID:9008023 Memory Disorders ISO RGD:731068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21682298 11908965 CHRM1 cholinergic receptor muscarinic 1 gene DOID:9008023 Memory Disorders ISO RGD:731069 D RGD:9068941 20200609 RGD PMID:12483218|REF_RGD_ID:734777 11908971 SYT9 synaptotagmin 9 gene DOID:630 genetic disease ISO RGD:1354462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908988 TAL1 TAL bHLH transcription factor 1, erythroid differentiation factor gene DOID:1037 lymphoid leukemia ISO RGD:1315544 D RGD:9068941 20220825 MouseDO 11908988 TAL1 TAL bHLH transcription factor 1, erythroid differentiation factor gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1315543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19246562|PMID:24394663 11908988 TAL1 TAL bHLH transcription factor 1, erythroid differentiation factor gene DOID:630 genetic disease ISO RGD:1315543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908988 TAL1 TAL bHLH transcription factor 1, erythroid differentiation factor gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1315543 D RGD:7240710 20230505 OMIM 11908997 SPEF1 sperm flagellar 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1322632 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11908997 SPEF1 sperm flagellar 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1322632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11908997 SPEF1 sperm flagellar 1 gene DOID:630 genetic disease ISO RGD:1322632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11908997 SPEF1 sperm flagellar 1 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1322632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 11909008 SIM2 SIM bHLH transcription factor 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1317540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11909008 SIM2 SIM bHLH transcription factor 2 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1317540 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11909008 SIM2 SIM bHLH transcription factor 2 gene DOID:1826 epilepsy ISO RGD:1317540 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11909008 SIM2 SIM bHLH transcription factor 2 gene DOID:630 genetic disease ISO RGD:1317540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909008 SIM2 SIM bHLH transcription factor 2 gene DOID:674 cleft palate ISO RGD:1317540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12203729 11909008 SIM2 SIM bHLH transcription factor 2 gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1317540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 11909008 SIM2 SIM bHLH transcription factor 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1317540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12203729 11909023 MTFR1L mitochondrial fission regulator 1 like gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1606533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 11909023 MTFR1L mitochondrial fission regulator 1 like gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1606533 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 11909023 MTFR1L mitochondrial fission regulator 1 like gene DOID:630 genetic disease ISO RGD:1606533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909047 THYN1 thymocyte nuclear protein 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1606014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11909047 THYN1 thymocyte nuclear protein 1 gene DOID:5419 schizophrenia ISO RGD:1606014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11909047 THYN1 thymocyte nuclear protein 1 gene DOID:630 genetic disease ISO RGD:1606014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909047 THYN1 thymocyte nuclear protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11909047 THYN1 thymocyte nuclear protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 11909047 THYN1 thymocyte nuclear protein 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11909047 THYN1 thymocyte nuclear protein 1 gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1606014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:16857760|PMID:21109224|PMID:23255084|PMID:28492532 11909065 PHF21A PHD finger protein 21A gene DOID:0050444 infantile Refsum disease ISO RGD:1354499 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 11909065 PHF21A PHD finger protein 21A gene DOID:0060041 autism spectrum disorder ISO RGD:1354499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11909065 PHF21A PHD finger protein 21A gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1354499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11909065 PHF21A PHD finger protein 21A gene DOID:1059 intellectual disability ISO RGD:1354499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:30487643|PMID:31649809 11909065 PHF21A PHD finger protein 21A gene DOID:4001 ovarian carcinoma ISO RGD:1354499 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 11909065 PHF21A PHD finger protein 21A gene DOID:630 genetic disease ISO RGD:1354499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11909065 PHF21A PHD finger protein 21A gene DOID:9004521 Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures ISO RGD:1354499 D RGD:7240710 20200226 OMIM 11909065 PHF21A PHD finger protein 21A gene DOID:9004521 Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures ISO RGD:1354499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures PMID:25741868|PMID:28492532|PMID:30487643|PMID:31649809 11909065 PHF21A PHD finger protein 21A gene DOID:905 Zellweger syndrome ISO RGD:1354499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 11909108 PIK3C2G phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma gene DOID:0070174 spermatogenic failure 17 ISO RGD:735800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 17 PMID:25741868|PMID:26721930|PMID:31463947 11909108 PIK3C2G phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma gene DOID:630 genetic disease ISO RGD:735800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909108 PIK3C2G phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:735800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 11909108 PIK3C2G phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:735800 D RGD:9068941 20200609 RGD DNA:SNP:cds:437C>T(human) PMID:17991425|REF_RGD_ID:13506796 11909148 CCL28 C-C motif chemokine ligand 28 gene DOID:10763 hypertension ISO RGD:619937 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney (rat) PMID:19829664|REF_RGD_ID:4892132 11909148 CCL28 C-C motif chemokine ligand 28 gene DOID:10763 hypertension no_association ISO RGD:619937 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:16840655|REF_RGD_ID:2298761 11909148 CCL28 C-C motif chemokine ligand 28 gene DOID:1176 bronchial disease ISO RGD:1552437 D RGD:9068941 20200609 RGD Allergic Airway Disease PMID:15681819|REF_RGD_ID:4892197 11909148 CCL28 C-C motif chemokine ligand 28 gene DOID:2841 asthma ISO RGD:1552437 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:16290206|REF_RGD_ID:4892195 11909148 CCL28 C-C motif chemokine ligand 28 gene DOID:3310 atopic dermatitis severity ISO RGD:1349737 D RGD:9068941 20200609 RGD associated with Asthma; protein: increased secretion:serum (human) PMID:20161852|REF_RGD_ID:4892193 11909148 CCL28 C-C motif chemokine ligand 28 gene DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy ISO RGD:1552437 D RGD:9068941 20200609 RGD PMID:19050296|REF_RGD_ID:4890012 11909148 CCL28 C-C motif chemokine ligand 28 gene DOID:614 lymphopenia ISO RGD:619937 D RGD:9068941 20200609 RGD protein:decreased expression:small intestine villus (rat) PMID:19393265|REF_RGD_ID:4892224 11909148 CCL28 C-C motif chemokine ligand 28 gene DOID:630 genetic disease ISO RGD:1349737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909148 CCL28 C-C motif chemokine ligand 28 gene DOID:9001488 Human Influenza resistance ISO RGD:1552437 D RGD:9068941 20200609 RGD PMID:19847203|REF_RGD_ID:4892196 11909148 CCL28 C-C motif chemokine ligand 28 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11909148 CCL28 C-C motif chemokine ligand 28 gene DOID:9008225 Respirovirus Infections ISO RGD:1552437 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:17954569|REF_RGD_ID:4892194 11909170 LOXL4 lysyl oxidase like 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1318447 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11909170 LOXL4 lysyl oxidase like 4 gene DOID:11054 urinary bladder cancer ISO RGD:1318447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17456585 11909170 LOXL4 lysyl oxidase like 4 gene DOID:630 genetic disease ISO RGD:1318447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909188 POLN DNA polymerase nu gene DOID:10283 prostate cancer ISO RGD:1354283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11909188 POLN DNA polymerase nu gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1354283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 11909188 POLN DNA polymerase nu gene DOID:1856 cherubism ISO RGD:1354283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11909188 POLN DNA polymerase nu gene DOID:630 genetic disease ISO RGD:1354283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909228 GATC glutamyl-tRNA amidotransferase subunit C gene DOID:0112118 combined oxidative phosphorylation deficiency 42 ISO RGD:1606925 D RGD:7240710 20200520 OMIM 11909228 GATC glutamyl-tRNA amidotransferase subunit C gene DOID:0112118 combined oxidative phosphorylation deficiency 42 ISO RGD:1606925 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 42 PMID:25741868|PMID:30283131 11909228 GATC glutamyl-tRNA amidotransferase subunit C gene DOID:630 genetic disease ISO RGD:1606925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909228 GATC glutamyl-tRNA amidotransferase subunit C gene DOID:9000777 Mitochondrial Cardiomyopathy ISO RGD:1606925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, mitochondrial PMID:30283131 11909238 TRIAP1 TP53 regulated inhibitor of apoptosis 1 gene DOID:630 genetic disease ISO RGD:1602327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909245 NUDT17 nudix hydrolase 17 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1350013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 11909245 NUDT17 nudix hydrolase 17 gene DOID:1540 parathyroid carcinoma ISO RGD:1350013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11909245 NUDT17 nudix hydrolase 17 gene DOID:5419 schizophrenia ISO RGD:1350013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11909245 NUDT17 nudix hydrolase 17 gene DOID:630 genetic disease ISO RGD:1350013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909245 NUDT17 nudix hydrolase 17 gene DOID:9008939 Breast Neoplasms ISO RGD:1350013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 11909245 NUDT17 nudix hydrolase 17 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11909257 NAT16 N-acetyltransferase 16 (putative) gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11909257 NAT16 N-acetyltransferase 16 (putative) gene DOID:630 genetic disease ISO RGD:1601690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909257 NAT16 N-acetyltransferase 16 (putative) gene DOID:9008533 Plasminogen Activator Inhibitor-1 Deficiency ISO RGD:1601690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY PMID:21681106 11909265 NUCKS1 nuclear casein kinase and cyclin dependent kinase substrate 1 gene DOID:0060224 atrial fibrillation ISO RGD:736162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 11909265 NUCKS1 nuclear casein kinase and cyclin dependent kinase substrate 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:736162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11909265 NUCKS1 nuclear casein kinase and cyclin dependent kinase substrate 1 gene DOID:12849 autistic disorder ISO RGD:736162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11909265 NUCKS1 nuclear casein kinase and cyclin dependent kinase substrate 1 gene DOID:1540 parathyroid carcinoma ISO RGD:736162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11909265 NUCKS1 nuclear casein kinase and cyclin dependent kinase substrate 1 gene DOID:630 genetic disease ISO RGD:736162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909265 NUCKS1 nuclear casein kinase and cyclin dependent kinase substrate 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736162 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11909265 NUCKS1 nuclear casein kinase and cyclin dependent kinase substrate 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11909281 NKAIN3 sodium/potassium transporting ATPase interacting 3 gene DOID:630 genetic disease ISO RGD:1606659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909298 THAP9 THAP domain containing 9 gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1349156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 11909298 THAP9 THAP domain containing 9 gene DOID:630 genetic disease ISO RGD:1349156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909313 BAIAP2L1 BAR/IMD domain containing adaptor protein 2 like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11909313 BAIAP2L1 BAR/IMD domain containing adaptor protein 2 like 1 gene DOID:630 genetic disease ISO RGD:1352215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909313 BAIAP2L1 BAR/IMD domain containing adaptor protein 2 like 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1352215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 11909328 LOC100972084 major histocompatibility complex class I-related gene protein gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1343564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 11909328 LOC100972084 major histocompatibility complex class I-related gene protein gene DOID:1540 parathyroid carcinoma ISO RGD:1343564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11909328 LOC100972084 major histocompatibility complex class I-related gene protein gene DOID:630 genetic disease ISO RGD:1343564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909328 LOC100972084 major histocompatibility complex class I-related gene protein gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1343564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11909328 LOC100972084 major histocompatibility complex class I-related gene protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11909348 BSND barttin CLCNK type accessory subunit beta gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1346772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB PMID:19646679|PMID:21541222|PMID:25741868|PMID:28492532|PMID:30303587 11909348 BSND barttin CLCNK type accessory subunit beta gene DOID:0110145 Bartter disease type 4A ISO RGD:1346772 D RGD:7240710 20180130 OMIM 11909348 BSND barttin CLCNK type accessory subunit beta gene DOID:0110145 Bartter disease type 4A ISO RGD:1346772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Bartter disease type 4A PMID:11687798|PMID:11734858|PMID:12111250|PMID:12574213|PMID:16199547|PMID:16328537|PMID:16572343|PMID:16583241|PMID:16773427|PMID:16935888|PMID:17954364|PMID:18776122|PMID:19025784|PMID:19096086|PMID:19646679|PMID:21269598|PMID:21541222|PMID:21865213|PMID:23967202|PMID:24033266|PMID:24828792|PMID:24902942|PMID:24949729|PMID:25741868|PMID:26467025|PMID:26537508|PMID:28012523|PMID:28492532|PMID:28555110|PMID:29254190|PMID:29942493|PMID:29986705|PMID:30174009|PMID:30303587|PMID:30311386|PMID:30733538|PMID:32608139|PMID:9463315 11909348 BSND barttin CLCNK type accessory subunit beta gene DOID:10003 sensorineural hearing loss ISO RGD:1346772 D RGD:9068941 20200609 RGD Bartter syndrome with sensorineural deafness, OMIM:602522, DNA:point mutation:A1T, R8W, DNA:deletion:exon PMID:11687798|REF_RGD_ID:1600603 11909348 BSND barttin CLCNK type accessory subunit beta gene DOID:445 Bartter disease ISO RGD:1346772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bartter syndrome | ClinVar Annotator: match by term: Bartter's syndrome PMID:11687798|PMID:11734858|PMID:12111250|PMID:12574213|PMID:16199547|PMID:16328537|PMID:16572343|PMID:16583241|PMID:16773427|PMID:16935888|PMID:17954364|PMID:18776122|PMID:19025784|PMID:19096086|PMID:19646679|PMID:21269598|PMID:21541222|PMID:21865213|PMID:23967202|PMID:24033266|PMID:24902942|PMID:24949729|PMID:25741868|PMID:26467025|PMID:26537508|PMID:28012523|PMID:28492532|PMID:28555110|PMID:29254190|PMID:29986705|PMID:30174009|PMID:30303587|PMID:30733538|PMID:32608139|PMID:9463315 11909348 BSND barttin CLCNK type accessory subunit beta gene DOID:630 genetic disease ISO RGD:1346772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 11909348 BSND barttin CLCNK type accessory subunit beta gene DOID:9001996 Sensorineural Deafness with Mild Renal Dysfunction ISO RGD:1346772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural deafness with mild renal dysfunction PMID:11687798|PMID:19646679|PMID:21541222|PMID:25741868|PMID:28492532|PMID:30303587|PMID:30311386 11909348 BSND barttin CLCNK type accessory subunit beta gene DOID:9004538 Hearing Loss ISO RGD:1346772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:11687798|PMID:19646679|PMID:25741868|PMID:28492532|PMID:30311386 11909348 BSND barttin CLCNK type accessory subunit beta gene DOID:9005308 Hypercholesterolemia, Autosomal Dominant, 3 ISO RGD:1346772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 PMID:28492532|PMID:30269829 11909356 CSRNP2 cysteine and serine rich nuclear protein 2 gene DOID:630 genetic disease ISO RGD:1318958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909377 BTC betacellulin gene DOID:10754 otitis media ISO RGD:620275 D RGD:9068941 20200609 RGD mRNA:decreased expression:middle ear PMID:12148846|REF_RGD_ID:2306978 11909377 BTC betacellulin gene DOID:13270 erythropoietic protoporphyria ISO RGD:736353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19267999 11909377 BTC betacellulin gene DOID:3892 insulinoma ISO RGD:736353 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:10724350|REF_RGD_ID:2326087 11909377 BTC betacellulin gene DOID:630 genetic disease ISO RGD:736353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909377 BTC betacellulin gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:736353 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11909377 BTC betacellulin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733574 D RGD:9068941 20200609 RGD PMID:19819964|REF_RGD_ID:2313774 11909377 BTC betacellulin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736353 D RGD:9068941 20200609 RGD PMID:14988244|PMID:18388935|REF_RGD_ID:1357906|REF_RGD_ID:2306965 11909377 BTC betacellulin gene DOID:9007821 Glucagonoma ISO RGD:736353 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:10724350|REF_RGD_ID:2326087 11909377 BTC betacellulin gene DOID:9352 type 2 diabetes mellitus ISO RGD:736353 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-226A/G (human) PMID:16306376|REF_RGD_ID:2306967 11909377 BTC betacellulin gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:736353 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.C7G (human) PMID:15793259|REF_RGD_ID:2306973 11909377 BTC betacellulin gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:736353 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:IVS4-4C>T (human) PMID:16683131|REF_RGD_ID:2306966 11909387 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:0050434 Andersen-Tawil syndrome ISO RGD:1352992 D RGD:7240710 20180130 OMIM 11909387 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:0050434 Andersen-Tawil syndrome ISO RGD:1352992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Andersen Syndrome | ClinVar Annotator: match by term: Andersen Tawil syndrome | ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features PMID:11371347|PMID:11841151|PMID:11861044|PMID:12045162|PMID:12086641|PMID:12148092|PMID:12163457|PMID:12689820|PMID:12796536|PMID:12909315|PMID:14522976|PMID:15028050|PMID:15276028|PMID:15757667|PMID:15761194|PMID:15831539|PMID:15851159|PMID:15852530|PMID:15911703|PMID:15922306|PMID:16217063|PMID:16419128|PMID:16533896|PMID:16541386|PMID:16571646|PMID:16818210|PMID:16834334|PMID:17074642|PMID:17119796|PMID:17210839|PMID:17211524|PMID:17221872|PMID:17324964|PMID:17341397|PMID:17399642|PMID:17399643|PMID:17568571|PMID:17581963|PMID:17582433|PMID:17619200|PMID:17640933|PMID:17655675|PMID:18313615|PMID:18452873|PMID:18554214|PMID:19041665|PMID:19111761|PMID:19201608|PMID:19570891|PMID:19931173|PMID:20111058|PMID:20382953|PMID:20647529|PMID:20713726|PMID:21148745|PMID:21493816|PMID:21875779|PMID:22002906|PMID:22166941|PMID:22186697|PMID:22286118|PMID:22308236|PMID:22371365|PMID:22581653|PMID:22589293|PMID:22806368|PMID:22944906|PMID:22982078|PMID:23516313|PMID:23564459|PMID:23595086|PMID:23631430|PMID:23644778|PMID:23861362|PMID:23867365|PMID:24025405|PMID:24033266|PMID:24047492|PMID:24211314|PMID:24383070|PMID:24388587|PMID:24395924|PMID:24561538|PMID:24721648|PMID:24861851|PMID:25223803|PMID:25284084|PMID:25351510|PMID:25410959|PMID:25415519|PMID:25637381|PMID:25741868|PMID:25847018|PMID:26109178|PMID:26230511|PMID:26304528|PMID:26322597|PMID:26467025|PMID:26927354|PMID:26937109|PMID:27145478|PMID:27456059|PMID:27789106|PMID:27920829|PMID:28003625|PMID:28024840|PMID:28336205|PMID:28341588|PMID:28491792|PMID:28492532|PMID:28501311|PMID:28589536|PMID:28600387|PMID:28606196|PMID:28711067|PMID:28798025|PMID:29017447|PMID:29247119|PMID:29606556|PMID:29874177|PMID:29915097|PMID:30298493|PMID:30516834|PMID:30533530|PMID:30615648|PMID:30847666|PMID:30975432|PMID:31068157|PMID:31483760|PMID:31521807|PMID:31534214|PMID:31567646|PMID:31737537|PMID:31890843|PMID:32145446|PMID:32184906|PMID:32299589|PMID:32499698|PMID:32969603|PMID:33057326|PMID:34127479|PMID:34426522|PMID:34516623|PMID:8078584 11909387 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:0050451 Brugada syndrome ISO RGD:1352992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 11909387 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:0050650 familial atrial fibrillation ISO RGD:1352992 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial atrial fibrillation PMID:25741868|PMID:28492532 11909387 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:0050793 short QT syndrome ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short QT syndrome PMID:15761194|PMID:17640933|PMID:22308236|PMID:22371365|PMID:22581653|PMID:25741868|PMID:28492532|PMID:8078584 11909387 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:0060224 atrial fibrillation ISO RGD:1352992 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:15922306|PMID:17581963|PMID:19041665|PMID:19111761|PMID:22581653|PMID:23631430|PMID:25223803|PMID:25410959|PMID:25637381|PMID:25741868|PMID:28492532|PMID:28711067|PMID:29247119|PMID:31521807|PMID:34426522|PMID:34516623 11909387 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:11371347|PMID:11841151|PMID:11861044|PMID:12086641|PMID:12148092|PMID:12163457|PMID:12796536|PMID:14522976|PMID:15757667|PMID:15851159|PMID:15911703|PMID:16217063|PMID:16419128|PMID:16818210|PMID:16834334|PMID:17211524|PMID:17221872|PMID:17655675|PMID:20713726|PMID:22002906|PMID:22581653|PMID:22589293|PMID:22806368|PMID:23516313|PMID:23631430|PMID:23644778|PMID:23867365|PMID:24025405|PMID:24721648|PMID:24861851|PMID:25741868|PMID:26109178|PMID:26467025|PMID:28003625|PMID:28492532|PMID:30298493|PMID:31068157 11909387 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:1029 familial periodic paralysis ISO RGD:1352992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial periodic paralysis PMID:17324964|PMID:19201608|PMID:22581653 11909387 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1352992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 11909387 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:2843 long QT syndrome ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:11371347|PMID:11841151|PMID:11861044|PMID:12045162|PMID:12086641|PMID:12148092|PMID:12163457|PMID:12689820|PMID:12796536|PMID:12909315|PMID:14522976|PMID:15028050|PMID:15276028|PMID:15757667|PMID:15831539|PMID:15851159|PMID:15852530|PMID:15911703|PMID:16217063|PMID:16419128|PMID:16541386|PMID:16571646|PMID:16818210|PMID:16834334|PMID:17074642|PMID:17119796|PMID:17210839|PMID:17211524|PMID:17221872|PMID:17324964|PMID:17341397|PMID:17399642|PMID:17399643|PMID:17568571|PMID:17582433|PMID:17655675|PMID:18452873|PMID:18554214|PMID:18690034|PMID:19931173|PMID:20111058|PMID:20382953|PMID:20647529|PMID:20713726|PMID:21148745|PMID:21640645|PMID:21875779|PMID:22002906|PMID:22186697|PMID:22286118|PMID:22581653|PMID:22589293|PMID:22806368|PMID:22944906|PMID:23516313|PMID:23595086|PMID:23631430|PMID:23644778|PMID:23867365|PMID:24025405|PMID:24211314|PMID:24561538|PMID:24721648|PMID:24861851|PMID:25284084|PMID:25415519|PMID:25637381|PMID:25741868|PMID:26109178|PMID:26467025|PMID:26927354|PMID:26937109|PMID:28003625|PMID:28024840|PMID:28492532|PMID:28501311|PMID:28600387|PMID:30298493|PMID:30516834|PMID:30533530|PMID:31068157|PMID:31737537|PMID:33057326|PMID:34127479 11909387 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:37 skin disease ISO RGD:1352992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11909387 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1352992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 11909387 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:5844 myocardial infarction treatment ISO RGD:61968 D RGD:9068941 20200609 RGD PMID:23647964|REF_RGD_ID:7247426 11909387 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:630 genetic disease ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11371347|PMID:12163457|PMID:12796536|PMID:12909315|PMID:15852530|PMID:16217063|PMID:17074642|PMID:17119796|PMID:17221872|PMID:17399642|PMID:17568571|PMID:18554214|PMID:20647529|PMID:22581653|PMID:22589293|PMID:23631430|PMID:24211314|PMID:25415519|PMID:25741868|PMID:26230511|PMID:26467025|PMID:26937109|PMID:28024840|PMID:28492532|PMID:28501311 11909387 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:9000006 Supraventricular Tachycardia ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Supraventricular tachycardia PMID:16217063|PMID:16818210|PMID:17341397|PMID:22581653|PMID:22589293|PMID:22806368|PMID:23631430|PMID:23644778|PMID:24861851|PMID:25741868|PMID:26304528|PMID:28336205|PMID:28492532 11909387 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:17211524|PMID:17324964|PMID:17341397|PMID:22581653|PMID:22589293|PMID:24383070|PMID:25741868|PMID:25847018|PMID:27145478|PMID:28492532|PMID:31068157|PMID:31483760|PMID:31567646|PMID:31890843|PMID:32299589|PMID:32499698 11909387 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1352992 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:25741868|PMID:27920829|PMID:28492532|PMID:30615648|PMID:30975432|PMID:31737537|PMID:32184906 11909387 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:9001868 Short QT Syndrome 3 ISO RGD:1352992 D RGD:7240710 20180130 OMIM 11909387 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:9001868 Short QT Syndrome 3 ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 3 PMID:11371347|PMID:11841151|PMID:11861044|PMID:12086641|PMID:12148092|PMID:12163457|PMID:12796536|PMID:14522976|PMID:15757667|PMID:15761194|PMID:15851159|PMID:15911703|PMID:15922306|PMID:16217063|PMID:16419128|PMID:16818210|PMID:16834334|PMID:17211524|PMID:17221872|PMID:17341397|PMID:17581963|PMID:17640933|PMID:17655675|PMID:19041665|PMID:19111761|PMID:20713726|PMID:21875779|PMID:22002906|PMID:22308236|PMID:22371365|PMID:22581653|PMID:22589293|PMID:22806368|PMID:22944906|PMID:23516313|PMID:23631430|PMID:23644778|PMID:23867365|PMID:24025405|PMID:24033266|PMID:24388587|PMID:24721648|PMID:24861851|PMID:25223803|PMID:25351510|PMID:25410959|PMID:25637381|PMID:25741868|PMID:25847018|PMID:26109178|PMID:26304528|PMID:26467025|PMID:27456059|PMID:27920829|PMID:28003625|PMID:28336205|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28711067|PMID:28798025|PMID:29247119|PMID:29874177|PMID:29915097|PMID:30298493|PMID:30615648|PMID:30847666|PMID:30975432|PMID:31068157|PMID:31483760|PMID:31521807|PMID:31534214|PMID:31567646|PMID:31737537|PMID:31890843|PMID:32145446|PMID:32184906|PMID:32299589|PMID:32499698|PMID:34426522|PMID:34516623|PMID:8078584 11909387 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:9002848 Familial Atrial Fibrillation 9 ISO RGD:1352992 D RGD:7240710 20180130 OMIM 11909387 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:9002848 Familial Atrial Fibrillation 9 ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 9 PMID:11371347|PMID:11841151|PMID:11861044|PMID:12086641|PMID:12148092|PMID:12163457|PMID:12796536|PMID:14522976|PMID:15757667|PMID:15851159|PMID:15911703|PMID:15922306|PMID:16217063|PMID:16419128|PMID:16834334|PMID:17211524|PMID:17221872|PMID:17581963|PMID:17655675|PMID:19041665|PMID:19111761|PMID:20713726|PMID:22002906|PMID:22581653|PMID:22589293|PMID:22806368|PMID:23631430|PMID:23644778|PMID:23867365|PMID:24025405|PMID:24033266|PMID:24388587|PMID:24721648|PMID:25223803|PMID:25351510|PMID:25410959|PMID:25637381|PMID:25741868|PMID:26109178|PMID:26467025|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28711067|PMID:29247119|PMID:29874177|PMID:30298493|PMID:30847666|PMID:31068157|PMID:31521807|PMID:31534214|PMID:32145446|PMID:34426522|PMID:34516623 11909387 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:11371347|PMID:11841151|PMID:11861044|PMID:12086641|PMID:12148092|PMID:12163457|PMID:12796536|PMID:14522976|PMID:15757667|PMID:15851159|PMID:15911703|PMID:16217063|PMID:16419128|PMID:16818210|PMID:16834334|PMID:17211524|PMID:17221872|PMID:17655675|PMID:20713726|PMID:22002906|PMID:22581653|PMID:22589293|PMID:22806368|PMID:23516313|PMID:23631430|PMID:23644778|PMID:23867365|PMID:24025405|PMID:24721648|PMID:24861851|PMID:25741868|PMID:26109178|PMID:26467025|PMID:28003625|PMID:28492532|PMID:30298493|PMID:31068157 11909387 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:15851159|PMID:15911703|PMID:16217063|PMID:16818210|PMID:17341397|PMID:19843922|PMID:22581653|PMID:22589293|PMID:22806368|PMID:23631430|PMID:23644778|PMID:24861851|PMID:25741868|PMID:26304528|PMID:28336205|PMID:28492532 11909387 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:9007 sudden infant death syndrome ISO RGD:1352992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868|PMID:28341588|PMID:28492532|PMID:29874177 11909387 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:9007964 Arsenic Poisoning ISO RGD:1352992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11909393 PYGL glycogen phosphorylase L gene DOID:2747 glycogen storage disease ISO RGD:731803 D RGD:9068941 20200609 RGD PMID:9536091|REF_RGD_ID:1599374 11909393 PYGL glycogen phosphorylase L gene DOID:2754 glycogen storage disease VI ISO RGD:731803 D RGD:7240710 20180130 OMIM 11909393 PYGL glycogen phosphorylase L gene DOID:2754 glycogen storage disease VI ISO RGD:731803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type VI PMID:12809646|PMID:16199547|PMID:17576681|PMID:17705025|PMID:20301760|PMID:21646031|PMID:22899091|PMID:24033266|PMID:25266922|PMID:25640679|PMID:25741868|PMID:28492532|PMID:31508908|PMID:31768638|PMID:32268899|PMID:32892177|PMID:32961316|PMID:33763395|PMID:9529348|PMID:9536091|PMID:9536098 11909393 PYGL glycogen phosphorylase L gene DOID:3650 lactic acidosis ISO RGD:620687 D RGD:9068941 20200609 RGD DNA:mutation:multiple PMID:17705025|REF_RGD_ID:11071447 11909393 PYGL glycogen phosphorylase L gene DOID:3650 lactic acidosis ISO RGD:731803 D RGD:9068941 20200609 RGD DNA:mutation:multiple PMID:17705025|REF_RGD_ID:11071447 11909393 PYGL glycogen phosphorylase L gene DOID:3650 lactic acidosis ISO RGD:731804 D RGD:9068941 20200609 RGD DNA:mutation:multiple PMID:17705025|REF_RGD_ID:11071447 11909393 PYGL glycogen phosphorylase L gene DOID:630 genetic disease ISO RGD:731803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11909393 PYGL glycogen phosphorylase L gene DOID:684 hepatocellular carcinoma ISO RGD:731803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2885971 11909393 PYGL glycogen phosphorylase L gene DOID:9005369 Hepatomegaly ISO RGD:620687 D RGD:9068941 20200609 RGD DNA:SNPs,insertions,deletions:exons,introns:multiple PMID:21646031|REF_RGD_ID:21079734 11909393 PYGL glycogen phosphorylase L gene DOID:9005369 Hepatomegaly ISO RGD:620687 D RGD:9068941 20200609 RGD associated with glycogen storage disease VI;DNA:mutation:multiple PMID:17705025|REF_RGD_ID:11071447 11909393 PYGL glycogen phosphorylase L gene DOID:9005369 Hepatomegaly ISO RGD:731803 D RGD:9068941 20200609 RGD DNA:SNPs,insertions,deletions:exons,introns:multiple PMID:21646031|REF_RGD_ID:21079734 11909393 PYGL glycogen phosphorylase L gene DOID:9005369 Hepatomegaly ISO RGD:731803 D RGD:9068941 20200609 RGD associated with glycogen storage disease VI;DNA:mutation:multiple PMID:17705025|REF_RGD_ID:11071447 11909393 PYGL glycogen phosphorylase L gene DOID:9005369 Hepatomegaly ISO RGD:731804 D RGD:9068941 20200609 RGD DNA:SNPs,insertions,deletions:exons,introns:multiple PMID:21646031|REF_RGD_ID:21079734 11909393 PYGL glycogen phosphorylase L gene DOID:9005369 Hepatomegaly ISO RGD:731804 D RGD:9068941 20200609 RGD associated with glycogen storage disease VI;DNA:mutation:multiple PMID:17705025|REF_RGD_ID:11071447 11909393 PYGL glycogen phosphorylase L gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:620687 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:25336395|REF_RGD_ID:21079733 11909393 PYGL glycogen phosphorylase L gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11909393 PYGL glycogen phosphorylase L gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731803 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:25336395|REF_RGD_ID:21079733 11909393 PYGL glycogen phosphorylase L gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731804 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:25336395|REF_RGD_ID:21079733 11909417 ZNF613 zinc finger protein 613 gene DOID:630 genetic disease ISO RGD:1346771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909440 GPR85 G protein-coupled receptor 85 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11909440 GPR85 G protein-coupled receptor 85 gene DOID:630 genetic disease ISO RGD:736296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909440 GPR85 G protein-coupled receptor 85 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11909449 LOC100975679 acylpyruvase FAHD1, mitochondrial gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1348488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 11909449 LOC100975679 acylpyruvase FAHD1, mitochondrial gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1348488 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11909449 LOC100975679 acylpyruvase FAHD1, mitochondrial gene DOID:14227 azoospermia ISO RGD:1348488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 11909449 LOC100975679 acylpyruvase FAHD1, mitochondrial gene DOID:1826 epilepsy ISO RGD:1348488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11909449 LOC100975679 acylpyruvase FAHD1, mitochondrial gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1348488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11909449 LOC100975679 acylpyruvase FAHD1, mitochondrial gene DOID:630 genetic disease ISO RGD:1348488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909449 LOC100975679 acylpyruvase FAHD1, mitochondrial gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11909450 TBKBP1 TBK1 binding protein 1 gene DOID:630 genetic disease ISO RGD:731934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909450 TBKBP1 TBK1 binding protein 1 gene DOID:7147 ankylosing spondylitis ISO RGD:731934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743469 11909470 ITIH6 inter-alpha-trypsin inhibitor heavy chain family member 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11909470 ITIH6 inter-alpha-trypsin inhibitor heavy chain family member 6 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1345462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 11909470 ITIH6 inter-alpha-trypsin inhibitor heavy chain family member 6 gene DOID:1059 intellectual disability ISO RGD:1345462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11909470 ITIH6 inter-alpha-trypsin inhibitor heavy chain family member 6 gene DOID:12849 autistic disorder ISO RGD:1345462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11909470 ITIH6 inter-alpha-trypsin inhibitor heavy chain family member 6 gene DOID:630 genetic disease ISO RGD:1345462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909470 ITIH6 inter-alpha-trypsin inhibitor heavy chain family member 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11909470 ITIH6 inter-alpha-trypsin inhibitor heavy chain family member 6 gene DOID:9007661 Dwarfism ISO RGD:1345462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11909487 CRNKL1 crooked neck pre-mRNA splicing factor 1 gene DOID:1909 melanoma ISO RGD:733946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melanoma PMID:26619011 11909487 CRNKL1 crooked neck pre-mRNA splicing factor 1 gene DOID:2513 basal cell carcinoma ISO RGD:733946 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.S128F (human) PMID:23774526|REF_RGD_ID:9850250 11909487 CRNKL1 crooked neck pre-mRNA splicing factor 1 gene DOID:630 genetic disease ISO RGD:733946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909487 CRNKL1 crooked neck pre-mRNA splicing factor 1 gene DOID:8923 skin melanoma ISO RGD:733946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:26619011 11909510 LIMD1 LIM domain containing 1 gene DOID:630 genetic disease ISO RGD:1320381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909510 LIMD1 LIM domain containing 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1320381 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11909525 SH2D6 SH2 domain containing 6 gene DOID:630 genetic disease ISO RGD:1606407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909541 KPNA5 karyopherin subunit alpha 5 gene DOID:0060163 body dysmorphic disorder ISO RGD:1343568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 11909541 KPNA5 karyopherin subunit alpha 5 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1343568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 11909541 KPNA5 karyopherin subunit alpha 5 gene DOID:1059 intellectual disability ISO RGD:1343568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 11909541 KPNA5 karyopherin subunit alpha 5 gene DOID:10907 microcephaly ISO RGD:1343568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 11909541 KPNA5 karyopherin subunit alpha 5 gene DOID:1826 epilepsy ISO RGD:1343568 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11909541 KPNA5 karyopherin subunit alpha 5 gene DOID:630 genetic disease ISO RGD:1343568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909541 KPNA5 karyopherin subunit alpha 5 gene DOID:9000495 Tremor ISO RGD:1343568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 11909541 KPNA5 karyopherin subunit alpha 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11909560 FILIP1 filamin A interacting protein 1 gene DOID:630 genetic disease ISO RGD:1347231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909560 FILIP1 filamin A interacting protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1347231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11909560 FILIP1 filamin A interacting protein 1 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1347231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 11909587 CHTOP chromatin target of PRMT1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1607051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11909587 CHTOP chromatin target of PRMT1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1607051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11909587 CHTOP chromatin target of PRMT1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1607051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11909587 CHTOP chromatin target of PRMT1 gene DOID:1540 parathyroid carcinoma ISO RGD:1607051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11909587 CHTOP chromatin target of PRMT1 gene DOID:5812 MHC class II deficiency ISO RGD:1607051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11909587 CHTOP chromatin target of PRMT1 gene DOID:630 genetic disease ISO RGD:1607051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909587 CHTOP chromatin target of PRMT1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11909628 PHF5A PHD finger protein 5A gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1348043 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11909628 PHF5A PHD finger protein 5A gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1348043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 11909637 MOK MOK protein kinase gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1319529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11909637 MOK MOK protein kinase gene DOID:0111402 mucopolysaccharidosis type IIID ISO RGD:1319529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D PMID:25741868 11909637 MOK MOK protein kinase gene DOID:4450 renal cell carcinoma ISO RGD:1319529 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:15900605|REF_RGD_ID:7243170 11909637 MOK MOK protein kinase gene DOID:630 genetic disease ISO RGD:1319529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909637 MOK MOK protein kinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1319529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23500658 11909656 FAM168B family with sequence similarity 168 member B gene DOID:2661 myoepithelioma ISO RGD:1606974 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11909656 FAM168B family with sequence similarity 168 member B gene DOID:5419 schizophrenia ISO RGD:1606974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11909656 FAM168B family with sequence similarity 168 member B gene DOID:630 genetic disease ISO RGD:1606974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909666 PCDH17 protocadherin 17 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1312379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11909666 PCDH17 protocadherin 17 gene DOID:630 genetic disease ISO RGD:1312379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909680 SLC22A18 solute carrier family 22 member 18 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11909680 SLC22A18 solute carrier family 22 member 18 gene DOID:0080773 delta beta-thalassemia ISO RGD:1350768 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11909680 SLC22A18 solute carrier family 22 member 18 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11909680 SLC22A18 solute carrier family 22 member 18 gene DOID:1612 breast cancer ISO RGD:1350768 D RGD:7240710 20190315 OMIM 11909680 SLC22A18 solute carrier family 22 member 18 gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:1350768 D RGD:9068941 20220107 RGD mRNA:decreased expression:colorectum (human) PMID:26196590|REF_RGD_ID:11522474 11909680 SLC22A18 solute carrier family 22 member 18 gene DOID:3247 rhabdomyosarcoma ISO RGD:1350768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma, somatic PMID:9520460 11909680 SLC22A18 solute carrier family 22 member 18 gene DOID:3458 breast adenocarcinoma ISO RGD:1350768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast adenocarcinoma PMID:9520460 11909680 SLC22A18 solute carrier family 22 member 18 gene DOID:3905 lung carcinoma ISO RGD:1350768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:9751628 11909680 SLC22A18 solute carrier family 22 member 18 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1350768 D RGD:9068941 20220107 RGD mRNA:increased expression:lung (human) PMID:25498886|REF_RGD_ID:150557424 11909680 SLC22A18 solute carrier family 22 member 18 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1350768 D RGD:9068941 20220107 RGD protein:increased expression:lung (human) PMID:22237119|REF_RGD_ID:150557425 11909680 SLC22A18 solute carrier family 22 member 18 gene DOID:3910 lung adenocarcinoma ISO RGD:1350768 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 11909680 SLC22A18 solute carrier family 22 member 18 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1350768 D RGD:9068941 20220107 RGD mRNA:increased expression:lung (human) PMID:32726996|REF_RGD_ID:150557423 11909680 SLC22A18 solute carrier family 22 member 18 gene DOID:4914 esophagus adenocarcinoma disease_progression ISO RGD:1350768 D RGD:9068941 20220107 RGD DNA:hypermethylation: (human) PMID:23243219|REF_RGD_ID:150557426 11909680 SLC22A18 solute carrier family 22 member 18 gene DOID:630 genetic disease ISO RGD:1350768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909680 SLC22A18 solute carrier family 22 member 18 gene DOID:9005172 Lung Neoplasms ISO RGD:1350768 D RGD:7240710 20190315 OMIM 11909680 SLC22A18 solute carrier family 22 member 18 gene DOID:9007643 Embryonal Rhabdomyosarcoma 1 ISO RGD:1350768 D RGD:7240710 20190315 OMIM 11909680 SLC22A18 solute carrier family 22 member 18 gene DOID:9008939 Breast Neoplasms ISO RGD:1350768 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11909695 STAM signal transducing adaptor molecule gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1320313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11909695 STAM signal transducing adaptor molecule gene DOID:630 genetic disease ISO RGD:1320313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909695 STAM signal transducing adaptor molecule gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:1320313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532 11909717 RFXANK regulatory factor X associated ankyrin containing protein gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1322827 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 11909717 RFXANK regulatory factor X associated ankyrin containing protein gene DOID:5812 MHC class II deficiency ISO RGD:1322827 D RGD:7240710 20180207 OMIM 11909717 RFXANK regulatory factor X associated ankyrin containing protein gene DOID:5812 MHC class II deficiency ISO RGD:1322827 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group B | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency PMID:10803838|PMID:11313409|PMID:12618906|PMID:16166641|PMID:16199547|PMID:17576681|PMID:21908431|PMID:22524894|PMID:22863278|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7951244|PMID:9536098|PMID:9806546 11909717 RFXANK regulatory factor X associated ankyrin containing protein gene DOID:5812 MHC class II deficiency ISO RGD:1322827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group B | ClinVar Annotator: match by term: MHC class II deficiency PMID:10725724|PMID:10803838|PMID:11313409|PMID:11463838|PMID:12618906|PMID:16166641|PMID:16199547|PMID:17576681|PMID:21908431|PMID:22524894|PMID:22863278|PMID:24033266|PMID:25741868|PMID:27980538|PMID:28492532|PMID:28916186|PMID:30170160|PMID:32373116|PMID:34330684|PMID:7951244|PMID:9536098|PMID:9806546 11909717 RFXANK regulatory factor X associated ankyrin containing protein gene DOID:612 primary immunodeficiency disease ISO RGD:1322827 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:10725724|PMID:11463838|PMID:25741868 11909717 RFXANK regulatory factor X associated ankyrin containing protein gene DOID:627 severe combined immunodeficiency ISO RGD:1322827 D RGD:9068941 20200609 RGD PMID:12618906|REF_RGD_ID:1599746 11909717 RFXANK regulatory factor X associated ankyrin containing protein gene DOID:630 genetic disease ISO RGD:1322827 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11909717 RFXANK regulatory factor X associated ankyrin containing protein gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1322827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11909743 SASH1 SAM and SH3 domain containing 1 gene DOID:3390 palmoplantar keratosis ISO RGD:1350407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma PMID:25315659 11909743 SASH1 SAM and SH3 domain containing 1 gene DOID:630 genetic disease ISO RGD:1350407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909743 SASH1 SAM and SH3 domain containing 1 gene DOID:9002761 Dyschromatosis Universalis Hereditaria 1 ISO RGD:1350407 D RGD:7240710 20190403 OMIM 11909743 SASH1 SAM and SH3 domain containing 1 gene DOID:9002761 Dyschromatosis Universalis Hereditaria 1 ISO RGD:1350407 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dyschromatosis universalis hereditaria 1 PMID:12190883|PMID:15150790|PMID:23333244|PMID:25741868|PMID:26203640|PMID:27659786|PMID:27840890|PMID:27885802|PMID:28492532|PMID:29956681|PMID:32981204 11909743 SASH1 SAM and SH3 domain containing 1 gene DOID:9008147 Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma ISO RGD:1350407 D RGD:7240710 20190424 OMIM 11909743 SASH1 SAM and SH3 domain containing 1 gene DOID:9008147 Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma ISO RGD:1350407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA PMID:25315659|PMID:25741868 11909770 ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1354318 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11909770 ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1354318 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11909770 ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1354318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11909770 ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1354318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 11909770 ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1354318 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11909770 ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1354318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:15879500|PMID:20414677|PMID:28492532 11909770 ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:630 genetic disease ISO RGD:1354318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909800 UBE2E1 ubiquitin conjugating enzyme E2 E1 gene DOID:37 skin disease ISO RGD:1354241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11909800 UBE2E1 ubiquitin conjugating enzyme E2 E1 gene DOID:630 genetic disease ISO RGD:1354241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909800 UBE2E1 ubiquitin conjugating enzyme E2 E1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1354241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11909800 UBE2E1 ubiquitin conjugating enzyme E2 E1 gene DOID:9007964 Arsenic Poisoning ISO RGD:1354241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11909817 LAMA2 laminin subunit alpha 2 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1318918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy 11909817 LAMA2 laminin subunit alpha 2 gene DOID:0050741 alcohol dependence ISO RGD:1318918 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Alcohol dependence PMID:25741868 11909817 LAMA2 laminin subunit alpha 2 gene DOID:0080600 COVID-19 ISO RGD:1318918 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11909817 LAMA2 laminin subunit alpha 2 gene DOID:0080918 polymicrogyria ISO RGD:1318918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:20207543|PMID:25741868|PMID:28492532|PMID:29706646 11909817 LAMA2 laminin subunit alpha 2 gene DOID:0110636 congenital merosin-deficient muscular dystrophy 1A ISO RGD:1318918 D RGD:7240710 20180130 OMIM 11909817 LAMA2 laminin subunit alpha 2 gene DOID:0110636 congenital merosin-deficient muscular dystrophy 1A ISO RGD:1318918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy PMID:10022829|PMID:10611118|PMID:1061118|PMID:10619025|PMID:10694916|PMID:10747011|PMID:10852549|PMID:11071490|PMID:11287370|PMID:11369186|PMID:11591858|PMID:11938437|PMID:12100448|PMID:12552556|PMID:12601554|PMID:16199547|PMID:16216942|PMID:16770791|PMID:17576681|PMID:17949279|PMID:18414213|PMID:18700894|PMID:19294599|PMID:19388593|PMID:19763152|PMID:20207543|PMID:20307669|PMID:2152033|PMID:21520333|PMID:21896784|PMID:21922472|PMID:21953594|PMID:22166137|PMID:22406018|PMID:22426012|PMID:22675738|PMID:23326386|PMID:23757202|PMID:23911319|PMID:24033266|PMID:24082139|PMID:24223650|PMID:24225367|PMID:24534542|PMID:24611677|PMID:24957499|PMID:25124546|PMID:25214167|PMID:25326637|PMID:25332755|PMID:25525159|PMID:25640679|PMID:25663498|PMID:25741868|PMID:26104111|PMID:26304763|PMID:26436962|PMID:26467025|PMID:26607181|PMID:26633542|PMID:26962340|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27357428|PMID:27447704|PMID:27708273|PMID:27854218|PMID:27858741|PMID:27858771|PMID:27896284|PMID:27932089|PMID:28182637|PMID:28445022|PMID:28492532|PMID:28554332|PMID:28688748|PMID:28877744|PMID:29172004|PMID:29212164|PMID:29376585|PMID:29382405|PMID:29465610|PMID:29706646|PMID:29707938|PMID:29773157|PMID:30055037|PMID:30147969|PMID:30293248|PMID:30301903|PMID:30373198|PMID:30827497|PMID:31066047|PMID:31066050|PMID:31130284|PMID:31309178|PMID:31395899|PMID:31983221|PMID:32154989|PMID:32266982|PMID:32444167|PMID:32509318|PMID:32528171|PMID:32827036|PMID:32860008|PMID:32904964|PMID:32936536|PMID:33077954|PMID:33219631|PMID:33442022|PMID:34103343|PMID:34281576|PMID:34528292|PMID:7550355|PMID:8957020|PMID:9158149|PMID:9185182|PMID:9536098|PMID:9541105|PMID:9674786|PMID:9829280 11909817 LAMA2 laminin subunit alpha 2 gene DOID:0110636 congenital merosin-deficient muscular dystrophy 1A ISO RGD:1318918 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy PMID:10022829|PMID:10611118|PMID:1061118|PMID:10619025|PMID:10694916|PMID:10747011|PMID:10852549|PMID:11071490|PMID:11287370|PMID:11369186|PMID:11591858|PMID:11938437|PMID:12100448|PMID:12552556|PMID:12601554|PMID:16199547|PMID:16216942|PMID:16770791|PMID:17576681|PMID:17949279|PMID:18414213|PMID:18700894|PMID:19294599|PMID:19388593|PMID:19763152|PMID:20207543|PMID:20307669|PMID:2152033|PMID:21520333|PMID:21896784|PMID:21922472|PMID:21953594|PMID:22166137|PMID:22406018|PMID:22426012|PMID:22675738|PMID:23326386|PMID:23757202|PMID:23911319|PMID:24033266|PMID:24082139|PMID:24223650|PMID:24225367|PMID:24534542|PMID:24611677|PMID:24957499|PMID:25124546|PMID:25214167|PMID:25326637|PMID:25332755|PMID:25525159|PMID:25640679|PMID:25663498|PMID:25741868|PMID:26104111|PMID:26304763|PMID:26436962|PMID:26467025|PMID:26607181|PMID:26633542|PMID:26962340|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27357428|PMID:27447704|PMID:27708273|PMID:27854218|PMID:27858741|PMID:27858771|PMID:27896284|PMID:27932089|PMID:28182637|PMID:28445022|PMID:28492532|PMID:28554332|PMID:28688748|PMID:28877744|PMID:29172004|PMID:29212164|PMID:29376585|PMID:29382405|PMID:29465610|PMID:29706646|PMID:29707938|PMID:29773157|PMID:30055037|PMID:30147969|PMID:30293248|PMID:30301903|PMID:30373198|PMID:30827497|PMID:31040037|PMID:31066047|PMID:31066050|PMID:31130284|PMID:31309178|PMID:31395899|PMID:31694722|PMID:31983221|PMID:32154989|PMID:32266982|PMID:32444167|PMID:32509318|PMID:32528171|PMID:32827036|PMID:32860008|PMID:32904964|PMID:32936536|PMID:33077954|PMID:33219631|PMID:33442022|PMID:34103343|PMID:34281576|PMID:34528292|PMID:7550355|PMID:8957020|PMID:9158149|PMID:9185182|PMID:9536098|PMID:9541105|PMID:9674786|PMID:9829280 11909817 LAMA2 laminin subunit alpha 2 gene DOID:0110636 congenital merosin-deficient muscular dystrophy 1A treatment ISO RGD:1318919 D RGD:9068941 20200609 RGD PMID:28714989|REF_RGD_ID:13605609 11909817 LAMA2 laminin subunit alpha 2 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1318918 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:18700894|PMID:25741868|PMID:28445022|PMID:28492532|PMID:30055037|PMID:32904964|PMID:9674786 11909817 LAMA2 laminin subunit alpha 2 gene DOID:1059 intellectual disability ISO RGD:1318918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities PMID:24082139|PMID:24611677|PMID:25741868|PMID:26467025|PMID:27896284|PMID:28492532 11909817 LAMA2 laminin subunit alpha 2 gene DOID:1059 intellectual disability ISO RGD:1318918 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities PMID:24082139|PMID:24611677|PMID:25741868|PMID:26467025|PMID:27896284|PMID:28492532|PMID:31066047|PMID:31395899|PMID:33442022|PMID:34281576 11909817 LAMA2 laminin subunit alpha 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1318918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25648254 11909817 LAMA2 laminin subunit alpha 2 gene DOID:11054 urinary bladder cancer ISO RGD:1318918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 11909817 LAMA2 laminin subunit alpha 2 gene DOID:11830 myopia ISO RGD:1318918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 11909817 LAMA2 laminin subunit alpha 2 gene DOID:11830 myopia susceptibility ISO RGD:1318918 D RGD:9068941 20200609 RGD DNA:SNP: :rs12205363(human) PMID:27611182|REF_RGD_ID:13605610 11909817 LAMA2 laminin subunit alpha 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1318918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 11909817 LAMA2 laminin subunit alpha 2 gene DOID:1574 alcohol use disorder ISO RGD:1318918 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Alcohol dependence PMID:25741868 11909817 LAMA2 laminin subunit alpha 2 gene DOID:1591 renovascular hypertension ISO RGD:1308889 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:10773239|REF_RGD_ID:1600206 11909817 LAMA2 laminin subunit alpha 2 gene DOID:5419 schizophrenia ISO RGD:1318918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266|PMID:23042115 11909817 LAMA2 laminin subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1318918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10611118|PMID:11938437|PMID:12552556|PMID:12601554|PMID:16199547|PMID:17576681|PMID:17949279|PMID:18414213|PMID:18700894|PMID:20207543|PMID:21520333|PMID:21953594|PMID:22675738|PMID:24223650|PMID:24225367|PMID:24534542|PMID:24611677|PMID:25214167|PMID:25525159|PMID:25741868|PMID:26304763|PMID:26467025|PMID:26962340|PMID:28492532|PMID:29376585|PMID:30055037|PMID:30827497|PMID:32266982|PMID:32827036|PMID:32904964|PMID:32936536|PMID:33077954|PMID:33219631|PMID:34528292|PMID:9536098|PMID:9541105|PMID:9674786|PMID:9829280 11909817 LAMA2 laminin subunit alpha 2 gene DOID:9003760 Myalgia ISO RGD:1318918 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myalgia PMID:18700894|PMID:25741868|PMID:28445022|PMID:28492532|PMID:30055037|PMID:32904964|PMID:9674786 11909817 LAMA2 laminin subunit alpha 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1308889 D RGD:9068941 20200609 RGD PMID:10335943|REF_RGD_ID:1600207 11909817 LAMA2 laminin subunit alpha 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:1318918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotonia 11909817 LAMA2 laminin subunit alpha 2 gene DOID:9007352 Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency ISO RGD:1318918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to partial LAMA2 deficiency PMID:10611118|PMID:10852549|PMID:11071490|PMID:12100448|PMID:12552556|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18700894|PMID:20207543|PMID:21520333|PMID:21896784|PMID:21953594|PMID:22166137|PMID:22426012|PMID:23326386|PMID:24082139|PMID:24223650|PMID:24225367|PMID:24611677|PMID:24957499|PMID:25525159|PMID:25587058|PMID:25741868|PMID:26467025|PMID:26607181|PMID:27159402|PMID:27353517|PMID:27854218|PMID:27896284|PMID:28182637|PMID:28492532|PMID:28688748|PMID:29706646|PMID:30055037|PMID:30301903|PMID:30827497|PMID:31066047|PMID:31395899|PMID:31983221|PMID:32154989|PMID:32266982|PMID:32904964|PMID:33442022|PMID:34281576|PMID:34528292|PMID:8957020|PMID:9158149|PMID:9536098|PMID:9541105|PMID:9674786 11909817 LAMA2 laminin subunit alpha 2 gene DOID:9008732 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 ISO RGD:1318918 D RGD:7240710 20190315 OMIM 11909817 LAMA2 laminin subunit alpha 2 gene DOID:9008732 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 ISO RGD:1318918 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23 PMID:10611118|PMID:11071490|PMID:11369186|PMID:11938437|PMID:12100448|PMID:12552556|PMID:12601554|PMID:16199547|PMID:17576681|PMID:17949279|PMID:18414213|PMID:18700894|PMID:19388593|PMID:20207543|PMID:21520333|PMID:21922472|PMID:21953594|PMID:22166137|PMID:22426012|PMID:22675738|PMID:24223650|PMID:24225367|PMID:24611677|PMID:24957499|PMID:25124546|PMID:25214167|PMID:25332755|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26607181|PMID:26962340|PMID:27159402|PMID:27353517|PMID:27708273|PMID:27854218|PMID:27932089|PMID:28492532|PMID:28554332|PMID:28688748|PMID:29212164|PMID:29376585|PMID:29706646|PMID:29773157|PMID:30055037|PMID:30373198|PMID:30827497|PMID:31309178|PMID:31983221|PMID:32266982|PMID:32444167|PMID:32827036|PMID:32904964|PMID:33077954|PMID:8957020|PMID:9158149|PMID:9536098|PMID:9541105|PMID:9674786 11909817 LAMA2 laminin subunit alpha 2 gene DOID:9884 muscular dystrophy ISO RGD:1318918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:25741868|PMID:28492532 11909817 LAMA2 laminin subunit alpha 2 gene DOID:9884 muscular dystrophy susceptibility ISO RGD:1318918 D RGD:9068941 20200609 RGD DNA:splice-site mutation, nonsense mutation PMID:7550355|REF_RGD_ID:1600200 11909900 MANEA mannosidase endo-alpha gene DOID:11612 polycystic ovary syndrome ISO RGD:1345544 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11909900 MANEA mannosidase endo-alpha gene DOID:630 genetic disease ISO RGD:1345544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909900 MANEA mannosidase endo-alpha gene DOID:9004890 Paranoid Disorders ISO RGD:1345544 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 11909900 MANEA mannosidase endo-alpha gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1345544 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686|PMID:19255376 11909913 ANGPTL8 angiopoietin like 8 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1607022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11909913 ANGPTL8 angiopoietin like 8 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1607022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11909913 ANGPTL8 angiopoietin like 8 gene DOID:0111254 glutaric acidemia I ISO RGD:1607022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11909913 ANGPTL8 angiopoietin like 8 gene DOID:3413 alpha-mannosidosis ISO RGD:1607022 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11909913 ANGPTL8 angiopoietin like 8 gene DOID:630 genetic disease ISO RGD:1607022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909931 PALS1 protein associated with LIN7 1, MAGUK p55 family member gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1317631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 11909931 PALS1 protein associated with LIN7 1, MAGUK p55 family member gene DOID:14791 Leber congenital amaurosis ISO RGD:1317632 D RGD:9068941 20220825 MouseDO 11909931 PALS1 protein associated with LIN7 1, MAGUK p55 family member gene DOID:1969 cerebral palsy ISO RGD:1317631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:33073849 11909931 PALS1 protein associated with LIN7 1, MAGUK p55 family member gene DOID:630 genetic disease ISO RGD:1317631 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11909931 PALS1 protein associated with LIN7 1, MAGUK p55 family member gene DOID:9001325 Rett Syndrome, Atypical ISO RGD:1317631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:25741868|PMID:33073849 11909961 SNAP29 synaptosome associated protein 29 gene DOID:0060337 CEDNIK syndrome ISO RGD:735746 D RGD:7240710 20180130 OMIM 11909961 SNAP29 synaptosome associated protein 29 gene DOID:0060337 CEDNIK syndrome ISO RGD:735746 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: CEDNIK syndrome PMID:15968592|PMID:19350501|PMID:19896110|PMID:21073448|PMID:23185475|PMID:23231787|PMID:25356970|PMID:25473036|PMID:25741868|PMID:25958742|PMID:26467025|PMID:28388629|PMID:28492532|PMID:31748968|PMID:33422265|PMID:33977139|PMID:35229899 11909961 SNAP29 synaptosome associated protein 29 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:735746 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 11909961 SNAP29 synaptosome associated protein 29 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:735746 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 11909961 SNAP29 synaptosome associated protein 29 gene DOID:0060787 hypomyelinating leukodystrophy 2 ISO RGD:735746 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 PMID:15968592|PMID:21073448|PMID:25356970|PMID:25741868|PMID:28492532|PMID:31748968|PMID:33977139 11909961 SNAP29 synaptosome associated protein 29 gene DOID:1059 intellectual disability ISO RGD:735746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11909961 SNAP29 synaptosome associated protein 29 gene DOID:11198 DiGeorge syndrome ISO RGD:735746 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 11909961 SNAP29 synaptosome associated protein 29 gene DOID:11372 megacolon ISO RGD:735746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11909961 SNAP29 synaptosome associated protein 29 gene DOID:12583 velocardiofacial syndrome ISO RGD:735746 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 11909961 SNAP29 synaptosome associated protein 29 gene DOID:12849 autistic disorder ISO RGD:735746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11909961 SNAP29 synaptosome associated protein 29 gene DOID:1826 epilepsy ISO RGD:735746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11909961 SNAP29 synaptosome associated protein 29 gene DOID:5419 schizophrenia ISO RGD:735746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11909961 SNAP29 synaptosome associated protein 29 gene DOID:612 primary immunodeficiency disease ISO RGD:735746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11909961 SNAP29 synaptosome associated protein 29 gene DOID:630 genetic disease ISO RGD:735746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15968592|PMID:21073448|PMID:25356970|PMID:25741868|PMID:28492532|PMID:31748968|PMID:33977139 11909961 SNAP29 synaptosome associated protein 29 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11909961 SNAP29 synaptosome associated protein 29 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11909961 SNAP29 synaptosome associated protein 29 gene DOID:9007661 Dwarfism ISO RGD:735746 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11909970 USP36 ubiquitin specific peptidase 36 gene DOID:630 genetic disease ISO RGD:1320548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11909995 ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) gene DOID:0070243 primary coenzyme Q10 deficiency 6 ISO RGD:1343601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial steroid-resistant nephrotic syndrome with sensorineural deafness PMID:21540551|PMID:24140869|PMID:25741868|PMID:28044327|PMID:28117207|PMID:28173653|PMID:28492532|PMID:30232548|PMID:30584653|PMID:30682496|PMID:31937884 11909995 ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1343601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 11909995 ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) gene DOID:1059 intellectual disability ISO RGD:1343601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11909995 ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) gene DOID:630 genetic disease ISO RGD:1343601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11910019 HOXC9 homeobox C9 gene DOID:630 genetic disease ISO RGD:1314056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910019 HOXC9 homeobox C9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11910025 SKP2 S-phase kinase associated protein 2 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1607086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18850583 11910025 SKP2 S-phase kinase associated protein 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1607086 D RGD:9068941 20220324 RGD protein:increased expression:mucosa of oral region (human) PMID:24743017|REF_RGD_ID:151665336 11910025 SKP2 S-phase kinase associated protein 2 gene DOID:0050902 medulloblastoma ISO RGD:1607086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 11910025 SKP2 S-phase kinase associated protein 2 gene DOID:0080365 endometrial hyperplasia ISO RGD:1607086 D RGD:9068941 20200609 RGD associated with Endometrial Neoplasms;protein:increased expression:endometrium PMID:16080017|REF_RGD_ID:2315043 11910025 SKP2 S-phase kinase associated protein 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:1607086 D RGD:9068941 20200609 RGD PMID:19450994|REF_RGD_ID:2315029 11910025 SKP2 S-phase kinase associated protein 2 gene DOID:10286 prostate carcinoma ISO RGD:1607086 D RGD:9068941 20200609 RGD PMID:12670908|REF_RGD_ID:2315046 11910025 SKP2 S-phase kinase associated protein 2 gene DOID:14566 disease of cellular proliferation ISO RGD:1607086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18451165 11910025 SKP2 S-phase kinase associated protein 2 gene DOID:1612 breast cancer ISO RGD:1607086 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:19350629|REF_RGD_ID:2315035 11910025 SKP2 S-phase kinase associated protein 2 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1607086 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:15351619|REF_RGD_ID:2315044 11910025 SKP2 S-phase kinase associated protein 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1607086 D RGD:9068941 20200609 RGD PMID:18922157|REF_RGD_ID:2315038 11910025 SKP2 S-phase kinase associated protein 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1607086 D RGD:9068941 20200609 RGD mRNA:increased expression:lung: PMID:12107105|REF_RGD_ID:13825152 11910025 SKP2 S-phase kinase associated protein 2 gene DOID:630 genetic disease ISO RGD:1607086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910025 SKP2 S-phase kinase associated protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1562456 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:19533683|REF_RGD_ID:2315050 11910025 SKP2 S-phase kinase associated protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1607086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12717389 11910025 SKP2 S-phase kinase associated protein 2 gene DOID:8991 cervix uteri carcinoma in situ severity ISO RGD:1607086 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections PMID:19094580|REF_RGD_ID:2315036 11910025 SKP2 S-phase kinase associated protein 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1607086 D RGD:9068941 20200609 RGD associated with Endometrial Neoplasms;protein:increased expression:endometrium PMID:16080017|REF_RGD_ID:2315043 11910025 SKP2 S-phase kinase associated protein 2 gene DOID:9000998 Brain Injuries ISO RGD:1562456 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19852587|REF_RGD_ID:2315049 11910025 SKP2 S-phase kinase associated protein 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1607086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19636294 11910025 SKP2 S-phase kinase associated protein 2 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1607086 D RGD:9068941 20200609 RGD PMID:16525656|REF_RGD_ID:2315042 11910025 SKP2 S-phase kinase associated protein 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1607086 D RGD:9068941 20200609 RGD DNA, mRNA:amplification, increased expression:uterine cervix PMID:18559093|REF_RGD_ID:2302384 11910025 SKP2 S-phase kinase associated protein 2 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:1607086 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections PMID:19094580|REF_RGD_ID:2315036 11910025 SKP2 S-phase kinase associated protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11910025 SKP2 S-phase kinase associated protein 2 gene DOID:9005882 Spine Osteoarthritis ISO RGD:1607086 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34697729 11910025 SKP2 S-phase kinase associated protein 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1607086 D RGD:9068941 20200609 RGD PMID:15220466|REF_RGD_ID:2315045 11910047 ZNF35 zinc finger protein 35 gene DOID:630 genetic disease ISO RGD:1320503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910055 MCM3 minichromosome maintenance complex component 3 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1313036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:25741868|PMID:33654309 11910055 MCM3 minichromosome maintenance complex component 3 gene DOID:630 genetic disease ISO RGD:1313036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910080 SIX4 SIX homeobox 4 gene DOID:630 genetic disease ISO RGD:1315508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910080 SIX4 SIX homeobox 4 gene DOID:9007844 Branchiootic Syndrome 3 ISO RGD:1315508 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Branchiootic syndrome 3 PMID:18666230|PMID:25414181|PMID:28492532 11910086 USP30 ubiquitin specific peptidase 30 gene DOID:630 genetic disease ISO RGD:1317441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910134 LSM11 LSM11, U7 small nuclear RNA associated gene DOID:630 genetic disease ISO RGD:1354131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910134 LSM11 LSM11, U7 small nuclear RNA associated gene DOID:9001117 Aicardi-Goutieres Syndrome 8 ISO RGD:1354131 D RGD:7240710 20210825 OMIM 11910134 LSM11 LSM11, U7 small nuclear RNA associated gene DOID:9001117 Aicardi-Goutieres Syndrome 8 ISO RGD:1354131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8 PMID:33230297 11910142 TULP3 TUB like protein 3 gene DOID:0080322 polycystic kidney disease ISO RGD:1557674 D RGD:9068941 20220825 MouseDO 11910142 TULP3 TUB like protein 3 gene DOID:630 genetic disease ISO RGD:1348382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:35397207 11910142 TULP3 TUB like protein 3 gene DOID:9006301 HEPATORENOCARDIAC DEGENERATIVE FIBROSIS ISO RGD:1348382 D RGD:7240710 20220810 OMIM 11910142 TULP3 TUB like protein 3 gene DOID:9006301 HEPATORENOCARDIAC DEGENERATIVE FIBROSIS ISO RGD:1348382 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HEPATORENOCARDIAC DEGENERATIVE FIBROSIS PMID:25741868|PMID:35397207 11910142 TULP3 TUB like protein 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1348382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11910142 TULP3 TUB like protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11910165 POLR3C RNA polymerase III subunit C gene DOID:1227 neutropenia ISO RGD:1323060 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 11910165 POLR3C RNA polymerase III subunit C gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1323060 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 11910165 POLR3C RNA polymerase III subunit C gene DOID:1540 parathyroid carcinoma ISO RGD:1323060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11910165 POLR3C RNA polymerase III subunit C gene DOID:5419 schizophrenia ISO RGD:1323060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11910165 POLR3C RNA polymerase III subunit C gene DOID:630 genetic disease ISO RGD:1323060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910165 POLR3C RNA polymerase III subunit C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11910191 FKTN fukutin gene DOID:0050559 Fukuyama congenital muscular dystrophy ISO RGD:1320791 D RGD:7240710 20180130 OMIM 11910191 FKTN fukutin gene DOID:0050559 Fukuyama congenital muscular dystrophy ISO RGD:1320791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebromuscular dystrophy, Fukuyama type | ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED | ClinVar Annotator: match by term: Walker-Warburg Syndrome, Fktn-Related | ClinVar Annotator: match by term: Walker-Warburg syndrome, FKTN-related PMID:10545611|PMID:11153909|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15103718|PMID:16222679|PMID:17034757|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:29447731|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30975432|PMID:31983221|PMID:34008892|PMID:35131284|PMID:9536098|PMID:9690476 11910191 FKTN fukutin gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1320791 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15833426|PMID:16199547|PMID:17034757|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26467025|PMID:26633542|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:28166811|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:30060766|PMID:32969603|PMID:33048919|PMID:34008892|PMID:34120883|PMID:9536098|PMID:9690476 11910191 FKTN fukutin gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1320791 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:16199547|PMID:17034757|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26467025|PMID:26633542|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:28166811|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:30060766|PMID:31983221|PMID:32969603|PMID:33048919|PMID:34008892|PMID:34120883|PMID:9536098|PMID:9690476 11910191 FKTN fukutin gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1320791 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:16199547|PMID:17034757|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26633542|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:28166811|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:29447731|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30975432|PMID:31983221|PMID:32969603|PMID:33048919|PMID:34008892|PMID:34120883|PMID:9536098|PMID:9690476 11910191 FKTN fukutin gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1320791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15833426|PMID:16199547|PMID:17034757|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22522420|PMID:22958903|PMID:23582336|PMID:23746544|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26633542|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:27521547|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:29447731|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30975432|PMID:31756055|PMID:31862442|PMID:31983221|PMID:32746448|PMID:32969603|PMID:33048919|PMID:34008892|PMID:34120883|PMID:35131284|PMID:9536098|PMID:9690476 11910191 FKTN fukutin gene DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ISO RGD:1320792 D RGD:9068941 20220825 MouseDO OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 11910191 FKTN fukutin gene DOID:0050700 cardiomyopathy ISO RGD:1320791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:14627679|PMID:17878207|PMID:21102627|PMID:25741868|PMID:26467025|PMID:28492532 11910191 FKTN fukutin gene DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L ISO RGD:1320791 D RGD:9068941 20200609 RGD DNA:deletion, insertion, missense mutation:exon: c.920G>A (p.R307Q), 1167insA, 1363delG (human) PMID:17044012|REF_RGD_ID:11576328 11910191 FKTN fukutin gene DOID:0110296 autosomal recessive limb-girdle muscular dystrophy type 2M ISO RGD:1320791 D RGD:7240710 20180130 OMIM 11910191 FKTN fukutin gene DOID:0110296 autosomal recessive limb-girdle muscular dystrophy type 2M ISO RGD:1320791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2M | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 13 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 PMID:10545611|PMID:11165248|PMID:14627679|PMID:17044012|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:20620061|PMID:20961758|PMID:21520333|PMID:22275357|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25741868|PMID:25821721|PMID:26350204|PMID:26467025|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:29590070|PMID:30060766|PMID:30975432|PMID:31983221|PMID:35131284 11910191 FKTN fukutin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1320791 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:28492532|PMID:32969603|PMID:33048919|PMID:34120883 11910191 FKTN fukutin gene DOID:0110444 dilated cardiomyopathy 1X ISO RGD:1320791 D RGD:7240710 20180130 OMIM 11910191 FKTN fukutin gene DOID:0110444 dilated cardiomyopathy 1X ISO RGD:1320791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH MILD OR NO PROXIMAL MUSCLE WEAKNESS | ClinVar Annotator: match by term: Dilated cardiomyopathy 1X PMID:10545611|PMID:11153909|PMID:11165248|PMID:14627679|PMID:15103718|PMID:16222679|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19266496|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:22037554|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25741868|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26809617|PMID:27065010|PMID:27124789|PMID:27521547|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28798025|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30975432|PMID:31862442|PMID:31983221|PMID:35131284|PMID:9690476 11910191 FKTN fukutin gene DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ISO RGD:1320791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Hydrocephalus, agyria and retinal dysplasia | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:16199547|PMID:17034757|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22522420|PMID:22958903|PMID:23582336|PMID:23746544|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:29447731|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30975432|PMID:31983221|PMID:32969603|PMID:33048919|PMID:34008892|PMID:34120883|PMID:35131284|PMID:9536098|PMID:9690476 11910191 FKTN fukutin gene DOID:0112379 muscular dystrophy-dystroglycanopathy type B4 ISO RGD:1320791 D RGD:7240710 20180130 OMIM 11910191 FKTN fukutin gene DOID:0112379 muscular dystrophy-dystroglycanopathy type B4 ISO RGD:1320791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, FKTN-RELATED PMID:10545611|PMID:11165248|PMID:14627679|PMID:17044012|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19396839|PMID:20620061|PMID:20961758|PMID:21520333|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25741868|PMID:25821721|PMID:26350204|PMID:26467025|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:29590070|PMID:30060766|PMID:30975432|PMID:31983221|PMID:35131284 11910191 FKTN fukutin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1320791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:18414213|PMID:22037554|PMID:25741868|PMID:28492532 11910191 FKTN fukutin gene DOID:12930 dilated cardiomyopathy ISO RGD:1320791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17597323|PMID:25741868|PMID:26633542|PMID:28492532 11910191 FKTN fukutin gene DOID:630 genetic disease ISO RGD:1320791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18752264|PMID:21520333|PMID:22275357|PMID:25741868|PMID:26467025|PMID:28492532 11910191 FKTN fukutin gene DOID:9005141 Ventricular Tachycardia ISO RGD:1320791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:26467025|PMID:28492532 11910191 FKTN fukutin gene DOID:9006181 Congenital Muscular Dystrophy with Central Nervous System Involvement ISO RGD:1320791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement PMID:10545611|PMID:11153909|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15103718|PMID:16222679|PMID:17034757|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:29447731|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30975432|PMID:31983221|PMID:34008892|PMID:35131284|PMID:9536098|PMID:9690476 11910191 FKTN fukutin gene DOID:9008086 Developmental Disabilities ISO RGD:1320791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11910191 FKTN fukutin gene DOID:9884 muscular dystrophy ISO RGD:1320791 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16531417 11910191 FKTN fukutin gene DOID:9884 muscular dystrophy ISO RGD:1320791 D RGD:9068941 20200609 RGD PMID:10852541|REF_RGD_ID:11576326 11910191 FKTN fukutin gene DOID:9884 muscular dystrophy ISO RGD:1320791 D RGD:9068941 20200609 RGD DNA:deletion, missense mutations, nonsense mutation:exon, intron:multiple PMID:20961758|REF_RGD_ID:11070464 11910191 FKTN fukutin gene DOID:9884 muscular dystrophy ISO RGD:1320791 D RGD:9068941 20200609 RGD DNA:missense mutations, nonsense mutation:exon:multiple PMID:19179078|REF_RGD_ID:11576323 11910191 FKTN fukutin gene DOID:9884 muscular dystrophy ISO RGD:1320791 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:c.340G>A, c.527T>C (human) PMID:19342235|REF_RGD_ID:11576325 11910220 SLITRK6 SLIT and NTRK like family member 6 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1315229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11910220 SLITRK6 SLIT and NTRK like family member 6 gene DOID:0111628 high myopia-sensorineural deafness syndrome ISO RGD:1315229 D RGD:7240710 20180130 OMIM 11910220 SLITRK6 SLIT and NTRK like family member 6 gene DOID:0111628 high myopia-sensorineural deafness syndrome ISO RGD:1315229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia-sensorineural deafness syndrome PMID:23543054|PMID:23946138|PMID:24033266|PMID:25363768|PMID:25741868|PMID:28407358|PMID:28492532|PMID:30311386 11910220 SLITRK6 SLIT and NTRK like family member 6 gene DOID:10003 sensorineural hearing loss ISO RGD:1315230 D RGD:9068941 20220825 MouseDO OMIM:304400 11910220 SLITRK6 SLIT and NTRK like family member 6 gene DOID:3007 breast ductal carcinoma ISO RGD:1315229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 11910220 SLITRK6 SLIT and NTRK like family member 6 gene DOID:630 genetic disease ISO RGD:1315229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 11910220 SLITRK6 SLIT and NTRK like family member 6 gene DOID:9004538 Hearing Loss ISO RGD:1315229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:28492532|PMID:30311386 11910220 SLITRK6 SLIT and NTRK like family member 6 gene DOID:9008086 Developmental Disabilities ISO RGD:1315229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741897 11910227 SOX12 SRY-box transcription factor 12 gene DOID:630 genetic disease ISO RGD:1318728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910227 SOX12 SRY-box transcription factor 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26457647 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20081860 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:28438623|REF_RGD_ID:126779596 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050860 colorectal adenoma disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD protein:increased expression:large intestine PMID:30214616|REF_RGD_ID:126779593 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD DNA:SNP: rs3757441 (human) PMID:21926398|REF_RGD_ID:126779594 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:24122997|REF_RGD_ID:126779588 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1312683 D RGD:9068941 20210416 RGD associated with oral mucosa leukoplakia PMID:21697275|REF_RGD_ID:126781699 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:1312683 D RGD:9068941 20210416 RGD DNA:SNPs, haplotypes: :multiple PMID:26807327|REF_RGD_ID:126779606 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050873 follicular lymphoma ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050908 myelodysplastic syndrome ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20601954 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050908 myelodysplastic syndrome severity ISO RGD:1312683 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:22869879|REF_RGD_ID:10450880 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050908 myelodysplastic syndrome severity ISO RGD:1312683 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow, mononuclear cell (human) PMID:21125401|REF_RGD_ID:10450887 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0060058 lymphoma ISO RGD:1312683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoma PMID:23023262|PMID:24563539|PMID:26619011 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1312683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:23023262|PMID:24563539|PMID:26619011 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0070004 myeloid neoplasm ISO RGD:1312684 D RGD:9068941 20200609 RGD PMID:22233633|REF_RGD_ID:10450869 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0080188 chronic myelomonocytic leukemia severity ISO RGD:1312683 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:21339759|REF_RGD_ID:10450882 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0080199 colorectal carcinoma ISO RGD:1312683 D RGD:9068941 20210416 RGD protein:increased expression:large intestine PMID:30214616|REF_RGD_ID:126779593 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1595860 D RGD:9068941 20200609 RGD PMID:24351808|REF_RGD_ID:9588320 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0080600 COVID-19 ISO RGD:1312683 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24056718 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0090130 cortical dysplasia-focal epilepsy syndrome ISO RGD:1312683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome PMID:16571880|PMID:22872700|PMID:28492532 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:10283 prostate cancer severity ISO RGD:1312683 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland (human) PMID:17134822|REF_RGD_ID:10755355 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:10534 stomach cancer disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:16734726|REF_RGD_ID:126781698 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:10534 stomach cancer susceptibility ISO RGD:1312683 D RGD:9068941 20210416 RGD DNA:SNPs: :multiple PMID:22228224|REF_RGD_ID:126779605 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:10534 stomach cancer treatment ISO RGD:1312683 D RGD:9068941 20200609 RGD PMID:25595591|REF_RGD_ID:14928319 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:11054 urinary bladder cancer ISO RGD:1312683 D RGD:9068941 20210416 RGD mRNA:increased expression:urinary bladder PMID:21539681|REF_RGD_ID:126781700 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:127 leiomyoma ISO RGD:1595860 D RGD:9068941 20200609 RGD PMID:22504913|REF_RGD_ID:9588321 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:1324 lung cancer susceptibility ISO RGD:1312683 D RGD:9068941 20210416 RGD DNA:SNPs, haplotype: :rs6950683, rs3757441 (human) PMID:19901851|REF_RGD_ID:126781717 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:14731 Weaver syndrome ISO RGD:1312683 D RGD:7240710 20180130 OMIM 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:14731 Weaver syndrome ISO RGD:1312683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Weaver syndrome PMID:16199547|PMID:17576681|PMID:18414213|PMID:22177091|PMID:22190405|PMID:23680131|PMID:24214728|PMID:24728327|PMID:25741868|PMID:26380986|PMID:26694085|PMID:28492532|PMID:29802153|PMID:30613354|PMID:31785789|PMID:32243864|PMID:4366187|PMID:9536098 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:1793 pancreatic cancer ISO RGD:1595860 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:22222375|REF_RGD_ID:9588324 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:219 colon cancer disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:19773751|REF_RGD_ID:126781702 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:2340 craniosynostosis ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26424790 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:289 endometriosis treatment ISO RGD:1595860 D RGD:9068941 20210416 RGD PMID:32651901|REF_RGD_ID:126781723 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:3008 invasive ductal carcinoma ISO RGD:1312683 D RGD:9068941 20200609 RGD PMID:14532106|REF_RGD_ID:9588325 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:3068 glioblastoma treatment ISO RGD:1312683 D RGD:9068941 20200609 RGD PMID:25595591|REF_RGD_ID:14928319 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:3347 osteosarcoma ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14767549 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:3347 osteosarcoma ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:26265454|REF_RGD_ID:11532507 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:21165554|PMID:25613619|REF_RGD_ID:126781697|REF_RGD_ID:126781701 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:21539681|PMID:23300840|REF_RGD_ID:126781700|REF_RGD_ID:126781715 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:24097870|REF_RGD_ID:126781716 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD DNA:SNP: :g.148505302C>T (rs887569) (human) PMID:24179546|REF_RGD_ID:126779604 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:4947 cholangiocarcinoma no_association ISO RGD:1312683 D RGD:9068941 20210416 RGD DNA:SNPs: :g.148525904C>G, (rs2302427), g.148519011C>T (rs6464926), g.148517456T>G (rs17171119) (human) PMID:24179546|REF_RGD_ID:126779604 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:4971 myelofibrosis ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20601953 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:4971 myelofibrosis severity ISO RGD:1312683 D RGD:9068941 20200609 RGD DNA:mutations:exons, introns:multiple (human) PMID:21921040|REF_RGD_ID:10450870 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:4972 myelodysplastic/myeloproliferative neoplasm ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20601953 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:4972 myelodysplastic/myeloproliferative neoplasm ISO RGD:1312684 D RGD:9068941 20200609 RGD PMID:24218139|REF_RGD_ID:11038772 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:5176 renal Wilms' tumor ISO RGD:1312683 D RGD:9068941 20221103 RGD human tumor in mouse model PMID:18467665|REF_RGD_ID:155631277 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1312684 D RGD:9068941 20200609 RGD PMID:22431509|REF_RGD_ID:10755340 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:6000 congestive heart failure disease_progression ISO RGD:1312683 D RGD:9068941 20221027 RGD DNA:mutations: : PMID:33779075|REF_RGD_ID:155630627 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:630 genetic disease ISO RGD:1312683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:684 hepatocellular carcinoma ISO RGD:1312683 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:24211739|REF_RGD_ID:10755339 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:684 hepatocellular carcinoma ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:25226601|REF_RGD_ID:126779608 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:684 hepatocellular carcinoma ISO RGD:1312683 D RGD:9068941 20210416 RGD mRNA:increased expression:liver PMID:26517514|REF_RGD_ID:11537550 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:684 hepatocellular carcinoma ISO RGD:1312683 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560|PMID:34545456 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1312683 D RGD:9068941 20210416 RGD DNA:SNPs: :multiple PMID:24040354|REF_RGD_ID:126779595 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:707 B-cell lymphoma ISO RGD:1312684 D RGD:9068941 20220825 MouseDO 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:707 B-cell lymphoma severity ISO RGD:1312684 D RGD:9068941 20200609 RGD PMID:23982173|REF_RGD_ID:10755356 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:707 B-cell lymphoma treatment ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:29456795|REF_RGD_ID:126781726 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD mRNA, protein:increased expression:pleura PMID:22028491|REF_RGD_ID:126781718 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:8552 chronic myeloid leukemia ISO RGD:1312683 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow mononuclear cells (human) PMID:27070757|REF_RGD_ID:13782088 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:8761 acute megakaryocytic leukemia ISO RGD:1312683 D RGD:9068941 20200609 RGD associated with Down Syndrome;DNA:mutations:multiple (human) PMID:24056718|REF_RGD_ID:10450890 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:8923 skin melanoma ISO RGD:1312683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:23023262|PMID:24563539|PMID:26619011 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9000099 Experimental Colitis treatment ISO RGD:1312684 D RGD:9068941 20210416 RGD PMID:31160593|REF_RGD_ID:126779602 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9000965 Neoplasm Metastasis ISO RGD:1312683 D RGD:9068941 20210416 RGD associated with lung non-small cell carcinoma PMID:24097870|REF_RGD_ID:126781716 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9000965 Neoplasm Metastasis ISO RGD:1312683 D RGD:9068941 20210416 RGD associated with osteosarcoma PMID:26265454|REF_RGD_ID:11532507 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9000965 Neoplasm Metastasis ISO RGD:1312683 D RGD:9068941 20210416 RGD associated with stomach cancer;protein:increased expression:stomach PMID:20132185|REF_RGD_ID:126779607 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17003774|PMID:17173048|PMID:21903722 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9002762 Ovarian Neoplasms ISO RGD:1312683 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35442568 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9004203 Chromosome Breakage ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29391238 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9004283 Transplant Rejection treatment ISO RGD:1595860 D RGD:9068941 20210416 RGD PMID:27784285|REF_RGD_ID:126781722 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9004402 Congenital Upper Extremity Deformities ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26424790 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1595860 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart PMID:23727574|REF_RGD_ID:9588322 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9004657 Weight Gain ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30971429 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1595860 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:23508046|REF_RGD_ID:9587808 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9006014 Peritoneal Adhesions ISO RGD:1595860 D RGD:9068941 20210416 RGD protein:increased expression:peritoneum PMID:27690696|REF_RGD_ID:126781724 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1312684 D RGD:9068941 20221103 RGD mRNA:altered expression:kidney (mouse) PMID:18467665|REF_RGD_ID:155631277 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29391238 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9007715 Endometrial Neoplasms ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21903722 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9008939 Breast Neoplasms ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21903722 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9119 acute myeloid leukemia ISO RGD:1312683 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow, mononuclear cell (human) PMID:21125401|REF_RGD_ID:10450887 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1312684 D RGD:9068941 20200609 RGD PMID:22677129|REF_RGD_ID:10450874 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1312683 D RGD:9068941 20200609 RGD DNA:mutations:cds:multiple (human) PMID:23099237|REF_RGD_ID:10450876 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9256 colorectal cancer ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:21539681|REF_RGD_ID:126781700 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9256 colorectal cancer disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:26871294|REF_RGD_ID:126779590 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9256 colorectal cancer disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD DNA:SNP: :rs3757441 (human) PMID:21926398|REF_RGD_ID:126779594 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9256 colorectal cancer no_association ISO RGD:1312683 D RGD:9068941 20210416 RGD DNA:SNPs: :rs2302427, rs41277434, rs6958683 (human) PMID:21926398|REF_RGD_ID:126779594 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD mRNA, protein:increased expression:ventral nasal meatus PMID:21300475|REF_RGD_ID:126779603 11910231 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1312684 D RGD:9068941 20220825 MouseDO OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 11910264 MSC musculin gene DOID:0080600 COVID-19 ISO RGD:1313556 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11910264 MSC musculin gene DOID:630 genetic disease ISO RGD:1313556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910270 ZNF112 zinc finger protein 112 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1313981 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 11910270 ZNF112 zinc finger protein 112 gene DOID:630 genetic disease ISO RGD:1313981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910289 ZNF274 zinc finger protein 274 gene DOID:630 genetic disease ISO RGD:1347715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910289 ZNF274 zinc finger protein 274 gene DOID:9002955 Nerve Degeneration ISO RGD:1314905 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18815271 11910316 CDH18 cadherin 18 gene DOID:0111275 speech-language disorder-1 ISO RGD:1313454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood apraxia of speech PMID:27120335 11910316 CDH18 cadherin 18 gene DOID:630 genetic disease ISO RGD:1313454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910316 CDH18 cadherin 18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11910347 VSTM5 V-set and transmembrane domain containing 5 gene DOID:1059 intellectual disability ISO RGD:2301112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11910347 VSTM5 V-set and transmembrane domain containing 5 gene DOID:630 genetic disease ISO RGD:2301112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910355 NBR1 NBR1 autophagy cargo receptor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1322877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:19894111|PMID:23996866|PMID:24686251|PMID:28492532 11910355 NBR1 NBR1 autophagy cargo receptor gene DOID:630 genetic disease ISO RGD:1322877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910427 NARF nuclear prelamin A recognition factor gene DOID:630 genetic disease ISO RGD:1605690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:0060041 autism spectrum disorder ISO RGD:735878 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:10487 Hirschsprung's disease ISO RGD:735878 D RGD:9068941 20200609 RGD PMID:21991983|REF_RGD_ID:5509847 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:10652 Alzheimer's disease ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22944069|PMID:23047022 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:10652 Alzheimer's disease ISO RGD:735878 D RGD:9068941 20200609 RGD PMID:16581404|REF_RGD_ID:5509844 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:11054 urinary bladder cancer ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29644616 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:12858 Huntington's disease ISO RGD:735878 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:2953866|REF_RGD_ID:5688127 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:14330 Parkinson's disease ISO RGD:735878 D RGD:9068941 20200609 RGD PMID:19474411|REF_RGD_ID:5509846 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:1826 epilepsy ISO RGD:735878 D RGD:9068941 20200609 RGD PMID:7634486|REF_RGD_ID:5688133 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:2297 leptospirosis ISO RGD:69313 D RGD:9068941 20200609 RGD PMID:21921108|REF_RGD_ID:5688128 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:2355 anemia ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31170385 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:2377 multiple sclerosis ISO RGD:735878 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:2953866|REF_RGD_ID:5688127 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:437 myasthenia gravis ISO RGD:735878 D RGD:9068941 20200609 RGD PMID:17986328|REF_RGD_ID:5509842 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:4450 renal cell carcinoma ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18482720 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:480 movement disease ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19628251 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:6088 acute stress disorder ISO RGD:69313 D RGD:9068941 20200609 RGD PMID:20645790|REF_RGD_ID:5509849 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:630 genetic disease ISO RGD:735878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:670 amphetamine abuse ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16470869 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:863 nervous system disease ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22240983 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:8927 learning disability ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18533140 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:9000046 Poisoning ISO RGD:69313 D RGD:9068941 20200609 RGD PMID:19453088|REF_RGD_ID:5688054 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:9000046 Poisoning ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17098105 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:9000495 Tremor ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27083141 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:9001191 Cadmium Poisoning treatment ISO RGD:69313 D RGD:9068941 20220617 RGD PMID:27491636|REF_RGD_ID:152995409 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16496349 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:9002304 Prostatic Neoplasms ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20356562 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:9005292 Organophosphate Poisoning ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:23000449|PMID:3669600|PMID:8359835 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69313 D RGD:9068941 20200609 RGD PMID:1385785|PMID:19296211|REF_RGD_ID:2312432|REF_RGD_ID:2312437 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69313 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:19303406|REF_RGD_ID:2312430 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:69313 D RGD:9068941 20211015 RGD PMID:19347982|REF_RGD_ID:150517552 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:9005930 Endotoxemia ISO RGD:735878 D RGD:9068941 20200609 RGD PMID:17657467|REF_RGD_ID:5688055 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:9006257 Growth Disorders ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22898132 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27083141 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:9007023 Prenatal Injuries ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14657522 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:9007096 Stroke disease_progression ISO RGD:735878 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:20464061|REF_RGD_ID:5688131 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:9008023 Memory Disorders ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18599028 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:9008443 Colorectal Neoplasms ISO RGD:735878 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31004929 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:9008939 Breast Neoplasms ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23063927 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:9120 amyloidosis ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23047022 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:9470 bacterial meningitis ISO RGD:735878 D RGD:9068941 20200609 RGD PMID:21303225|REF_RGD_ID:5688130 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:9744 type 1 diabetes mellitus ISO RGD:735878 D RGD:9068941 20200609 RGD PMID:2658981|REF_RGD_ID:2312438 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:9884 muscular dystrophy ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22906800 11910443 ACHE acetylcholinesterase (Cartwright blood group) gene DOID:9970 obesity ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 11910472 MDM4 MDM4 regulator of p53 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1319584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11910472 MDM4 MDM4 regulator of p53 gene DOID:10316 pneumoconiosis ISO RGD:1319584 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 11910472 MDM4 MDM4 regulator of p53 gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:1319584 D RGD:9068941 20200609 RGD PMID:23861893|REF_RGD_ID:10047419 11910472 MDM4 MDM4 regulator of p53 gene DOID:12849 autistic disorder ISO RGD:1319584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11910472 MDM4 MDM4 regulator of p53 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319585 D RGD:9068941 20220825 MouseDO 11910472 MDM4 MDM4 regulator of p53 gene DOID:1540 parathyroid carcinoma ISO RGD:1319584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11910472 MDM4 MDM4 regulator of p53 gene DOID:3068 glioblastoma ISO RGD:1319584 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20472715 11910472 MDM4 MDM4 regulator of p53 gene DOID:630 genetic disease ISO RGD:1319584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910472 MDM4 MDM4 regulator of p53 gene DOID:9003643 Bone Marrow Failure Syndrome 6 ISO RGD:1319584 D RGD:7240710 20200429 OMIM 11910472 MDM4 MDM4 regulator of p53 gene DOID:9003643 Bone Marrow Failure Syndrome 6 ISO RGD:1319584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone marrow failure syndrome 6 PMID:25741868|PMID:32300648 11910472 MDM4 MDM4 regulator of p53 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1319584 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11910472 MDM4 MDM4 regulator of p53 gene DOID:9008939 Breast Neoplasms ISO RGD:1319584 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23535733 11910472 MDM4 MDM4 regulator of p53 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11910510 SRPK2 SRSF protein kinase 2 gene DOID:3312 bipolar disorder ISO RGD:1312944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 11910510 SRPK2 SRSF protein kinase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11910510 SRPK2 SRSF protein kinase 2 gene DOID:630 genetic disease ISO RGD:1312944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910544 STK38L serine/threonine kinase 38 like gene DOID:630 genetic disease ISO RGD:1353936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910544 STK38L serine/threonine kinase 38 like gene DOID:8466 retinal degeneration ISO RGD:12346036 D RGD:9068941 20230504 OMIA Early retinal degeneration PMID:10409424|PMID:12909371|PMID:20887780|PMID:21980341|PMID:22065099|PMID:24367709|PMID:24581223|PMID:2558906|PMID:30050836|PMID:30135513|PMID:3496233 11910562 CCDC54 coiled-coil domain containing 54 gene DOID:630 genetic disease ISO RGD:1606758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910567 KMT5A lysine methyltransferase 5A gene DOID:10283 prostate cancer ISO RGD:1602807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11910567 KMT5A lysine methyltransferase 5A gene DOID:630 genetic disease ISO RGD:1602807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910589 KIRREL1 kirre like nephrin family adhesion molecule 1 gene DOID:0112266 nephrotic syndrome type 23 ISO RGD:1349040 D RGD:7240710 20210324 OMIM 11910589 KIRREL1 kirre like nephrin family adhesion molecule 1 gene DOID:0112266 nephrotic syndrome type 23 ISO RGD:1349040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 23 PMID:31472902 11910589 KIRREL1 kirre like nephrin family adhesion molecule 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1349040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11910589 KIRREL1 kirre like nephrin family adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:1349040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910589 KIRREL1 kirre like nephrin family adhesion molecule 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11910609 LOC100989677 keratin-associated protein 27-1 gene DOID:630 genetic disease ISO RGD:2292072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910617 LRRC74A leucine rich repeat containing 74A gene DOID:1059 intellectual disability ISO RGD:1351641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11910617 LRRC74A leucine rich repeat containing 74A gene DOID:630 genetic disease ISO RGD:1351641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910655 IL5 interleukin 5 gene DOID:0050256 angiostrongyliasis ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:8361777|REF_RGD_ID:11354948 11910655 IL5 interleukin 5 gene DOID:0050523 adult T-cell leukemia/lymphoma disease_progression ISO RGD:730927 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16425276|REF_RGD_ID:11354942 11910655 IL5 interleukin 5 gene DOID:0050589 inflammatory bowel disease susceptibility ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:22018693|REF_RGD_ID:5687148 11910655 IL5 interleukin 5 gene DOID:0060180 colitis ISO RGD:10799 D RGD:9068941 20200609 RGD protein: increased expression PMID:22018693|REF_RGD_ID:5687148 11910655 IL5 interleukin 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:730927 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11910655 IL5 interleukin 5 gene DOID:0080599 Coronavirus infectious disease ISO RGD:10799 D RGD:9068941 20200618 RGD PMID:19906920|REF_RGD_ID:4891446 11910655 IL5 interleukin 5 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:15368290|REF_RGD_ID:7241068 11910655 IL5 interleukin 5 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:730927 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21911837|REF_RGD_ID:11354912 11910655 IL5 interleukin 5 gene DOID:10534 stomach cancer susceptibility ISO RGD:730927 D RGD:9068941 20220204 RGD DNA:SNP::745 C>T (rs2069812)(human) PMID:18687755|REF_RGD_ID:151347690 11910655 IL5 interleukin 5 gene DOID:10923 sickle cell anemia ISO RGD:10799 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:25843670|REF_RGD_ID:11354938 11910655 IL5 interleukin 5 gene DOID:10955 strongyloidiasis severity ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:9824515|REF_RGD_ID:11354934 11910655 IL5 interleukin 5 gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:730927 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16787590|REF_RGD_ID:11354946 11910655 IL5 interleukin 5 gene DOID:11132 prostatic hypertrophy treatment ISO RGD:2900 D RGD:9068941 20200609 RGD PMID:20945403|REF_RGD_ID:5684375 11910655 IL5 interleukin 5 gene DOID:1184 nephrotic syndrome ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:22665336|REF_RGD_ID:7240715 11910655 IL5 interleukin 5 gene DOID:1273 respiratory syncytial virus infectious disease severity ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:25410867|REF_RGD_ID:11354937 11910655 IL5 interleukin 5 gene DOID:12849 autistic disorder ISO RGD:730927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16360218 11910655 IL5 interleukin 5 gene DOID:13922 eosinophilic esophagitis ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:23161496|REF_RGD_ID:11354947 11910655 IL5 interleukin 5 gene DOID:1394 urinary schistosomiasis resistance ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:9697734|REF_RGD_ID:7241010 11910655 IL5 interleukin 5 gene DOID:13976 peptic esophagitis ISO RGD:2900 D RGD:9068941 20200609 RGD associated with asthma; mRNA:increased expression:esophagus PMID:18222984|REF_RGD_ID:2307110 11910655 IL5 interleukin 5 gene DOID:1470 major depressive disorder ISO RGD:730927 D RGD:9068941 20200609 RGD protein: increased expression: serum PMID:22230487|REF_RGD_ID:5687135 11910655 IL5 interleukin 5 gene DOID:1496 echinococcosis ISO RGD:10799 D RGD:9068941 20200609 RGD mRNA: increased expression: : peritoneal lavage cells PMID:21912714|REF_RGD_ID:5687176 11910655 IL5 interleukin 5 gene DOID:2048 autoimmune hepatitis ISO RGD:730927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 11910655 IL5 interleukin 5 gene DOID:2841 asthma ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:11159041|PMID:9182686|REF_RGD_ID:4890963|REF_RGD_ID:5687189 11910655 IL5 interleukin 5 gene DOID:2841 asthma ISO RGD:10799 D RGD:9068941 20200609 RGD protein:increased expression:lungs, respiratory system fluid/secretion PMID:22085848|REF_RGD_ID:5687144 11910655 IL5 interleukin 5 gene DOID:2841 asthma ISO RGD:10799 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:15626484|REF_RGD_ID:4890947 11910655 IL5 interleukin 5 gene DOID:2841 asthma ISO RGD:2900 D RGD:9068941 20200609 RGD PMID:17074272|PMID:19947994|REF_RGD_ID:4145461|REF_RGD_ID:4890938 11910655 IL5 interleukin 5 gene DOID:2841 asthma ISO RGD:730927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23266719|PMID:7540862 11910655 IL5 interleukin 5 gene DOID:2841 asthma ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:15502111|REF_RGD_ID:4890948 11910655 IL5 interleukin 5 gene DOID:2841 asthma ISO RGD:730927 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-703C>T (human) PMID:18629290|REF_RGD_ID:4890940 11910655 IL5 interleukin 5 gene DOID:2841 asthma ISO RGD:730927 D RGD:9068941 20200609 RGD protein: increased levels: sputum PMID:22186238|REF_RGD_ID:5687140 11910655 IL5 interleukin 5 gene DOID:2841 asthma disease_progression ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:9493449|REF_RGD_ID:4890962 11910655 IL5 interleukin 5 gene DOID:2841 asthma treatment ISO RGD:2900 D RGD:9068941 20200609 RGD PMID:25008888|REF_RGD_ID:11354973 11910655 IL5 interleukin 5 gene DOID:3042 allergic contact dermatitis ISO RGD:730927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15347381 11910655 IL5 interleukin 5 gene DOID:3044 food allergy ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:22077487|REF_RGD_ID:5687145 11910655 IL5 interleukin 5 gene DOID:3049 Churg-Strauss syndrome severity ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:22772323|REF_RGD_ID:6892720 11910655 IL5 interleukin 5 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730927 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20858153|REF_RGD_ID:4890939 11910655 IL5 interleukin 5 gene DOID:3310 atopic dermatitis ISO RGD:730927 D RGD:9068941 20200609 RGD mRNA: increased expression: skin PMID:22299064|REF_RGD_ID:5687175 11910655 IL5 interleukin 5 gene DOID:3310 atopic dermatitis ISO RGD:730927 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:11886533|PMID:18249437|PMID:33274957 11910655 IL5 interleukin 5 gene DOID:3525 middle cerebral artery infarction ISO RGD:2900 D RGD:9068941 20200609 RGD PMID:23028794|REF_RGD_ID:7204480 11910655 IL5 interleukin 5 gene DOID:3770 pulmonary fibrosis ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:14975941|REF_RGD_ID:4890954 11910655 IL5 interleukin 5 gene DOID:3770 pulmonary fibrosis ISO RGD:10799 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17986108|REF_RGD_ID:4890942 11910655 IL5 interleukin 5 gene DOID:3770 pulmonary fibrosis ISO RGD:730927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17620002 11910655 IL5 interleukin 5 gene DOID:4031 eosinophilic gastroenteritis ISO RGD:730927 D RGD:9068941 20200609 RGD protein:increased expression:intestine, eosinophil PMID:8608886|REF_RGD_ID:11354940 11910655 IL5 interleukin 5 gene DOID:4481 allergic rhinitis treatment ISO RGD:2900 D RGD:9068941 20200609 RGD PMID:23934070|PMID:24620662|REF_RGD_ID:11354976|REF_RGD_ID:11522769 11910655 IL5 interleukin 5 gene DOID:4483 rhinitis ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:11884474|REF_RGD_ID:5128622 11910655 IL5 interleukin 5 gene DOID:5041 esophageal cancer treatment ISO RGD:2900 D RGD:9068941 20200609 RGD PMID:20232121|REF_RGD_ID:5134997 11910655 IL5 interleukin 5 gene DOID:630 genetic disease ISO RGD:730927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910655 IL5 interleukin 5 gene DOID:7148 rheumatoid arthritis ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:22293286|REF_RGD_ID:5687156 11910655 IL5 interleukin 5 gene DOID:8398 osteoarthritis ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:22035391|REF_RGD_ID:5687147 11910655 IL5 interleukin 5 gene DOID:841 extrinsic allergic alveolitis ISO RGD:10799 D RGD:9068941 20200609 RGD protein:increased expression:lung,respiratory system fluid/secretion PMID:19151189|REF_RGD_ID:4889106 11910655 IL5 interleukin 5 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:9712797|REF_RGD_ID:4890961 11910655 IL5 interleukin 5 gene DOID:9000772 Bronchial Hyperreactivity treatment ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:10471622|REF_RGD_ID:11354935 11910655 IL5 interleukin 5 gene DOID:9000998 Brain Injuries ISO RGD:2900 D RGD:9068941 20200609 RGD PMID:24602693|REF_RGD_ID:11522766 11910655 IL5 interleukin 5 gene DOID:9000998 Brain Injuries treatment ISO RGD:2900 D RGD:9068941 20200609 RGD PMID:24530657|REF_RGD_ID:11522770 11910655 IL5 interleukin 5 gene DOID:9001371 Eosinophilia ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:1988543|REF_RGD_ID:11354921 11910655 IL5 interleukin 5 gene DOID:9001371 Eosinophilia ISO RGD:2900 D RGD:9068941 20200609 RGD PMID:11884473|REF_RGD_ID:625643 11910655 IL5 interleukin 5 gene DOID:9001371 Eosinophilia ISO RGD:730927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11006010|PMID:1988543 11910655 IL5 interleukin 5 gene DOID:9001371 Eosinophilia ISO RGD:730927 D RGD:9068941 20200609 RGD associated with Dermatitis, Atopic;DNA:polymorphism:promoter:-703C>T (human) PMID:14581138|REF_RGD_ID:11354913 11910655 IL5 interleukin 5 gene DOID:9001371 Eosinophilia severity ISO RGD:730927 D RGD:9068941 20200609 RGD associated with Lymphoma, T-Cell PMID:18395252|REF_RGD_ID:11354898 11910655 IL5 interleukin 5 gene DOID:9001371 Eosinophilia treatment ISO RGD:10799 D RGD:9068941 20200609 RGD associated with Toxocariasis PMID:1699772|REF_RGD_ID:11354933 11910655 IL5 interleukin 5 gene DOID:9002892 Parasitic Intestinal Diseases ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:15534922|REF_RGD_ID:11354941 11910655 IL5 interleukin 5 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:730927 D RGD:9068941 20200609 RGD protein: increased levels: sputum PMID:22186238|REF_RGD_ID:5687140 11910655 IL5 interleukin 5 gene DOID:9004283 Transplant Rejection treatment ISO RGD:2900 D RGD:9068941 20200609 RGD PMID:11267027|REF_RGD_ID:11354977 11910655 IL5 interleukin 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11910655 IL5 interleukin 5 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:22293286|REF_RGD_ID:5687156 11910655 IL5 interleukin 5 gene DOID:9006647 Experimental Autoimmune Neuritis treatment ISO RGD:2900 D RGD:9068941 20200609 RGD PMID:22310911|REF_RGD_ID:11522768 11910655 IL5 interleukin 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:730927 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11910655 IL5 interleukin 5 gene DOID:9007073 Cough treatment ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:9525446|REF_RGD_ID:10449525 11910655 IL5 interleukin 5 gene DOID:9008865 Entamoebiasis ISO RGD:730927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16374615 11910655 IL5 interleukin 5 gene DOID:9074 systemic lupus erythematosus ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:23054011|REF_RGD_ID:7241039 11910655 IL5 interleukin 5 gene DOID:9362 status asthmaticus ISO RGD:730927 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:10934091|REF_RGD_ID:4890960 11910655 IL5 interleukin 5 gene DOID:9498 pulmonary eosinophilia ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:9712797|REF_RGD_ID:4890961 11910655 IL5 interleukin 5 gene DOID:9498 pulmonary eosinophilia ISO RGD:10799 D RGD:9068941 20200609 RGD associated with respiratory syncytial virus infection PMID:18519743|REF_RGD_ID:4890941 11910655 IL5 interleukin 5 gene DOID:9498 pulmonary eosinophilia ISO RGD:730927 D RGD:9068941 20200609 RGD associated with Pulmonary Fibrosis;protein:increased expression:respiratory system fluid/secretion PMID:17597386|REF_RGD_ID:11354949 11910655 IL5 interleukin 5 gene DOID:9498 pulmonary eosinophilia ISO RGD:730927 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:12765419|REF_RGD_ID:4890956 11910655 IL5 interleukin 5 gene DOID:9498 pulmonary eosinophilia treatment ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:10471622|REF_RGD_ID:11354935 11910663 LOC100991305 spindlin-2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11910663 LOC100991305 spindlin-2 gene DOID:12849 autistic disorder ISO RGD:1603797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11910663 LOC100991305 spindlin-2 gene DOID:630 genetic disease ISO RGD:1603797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910669 PDGFA platelet derived growth factor subunit A gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 11910669 PDGFA platelet derived growth factor subunit A gene DOID:12215 oligohydramnios ISO RGD:3282 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:17519529|REF_RGD_ID:2292203 11910669 PDGFA platelet derived growth factor subunit A gene DOID:127 leiomyoma ISO RGD:736070 D RGD:9068941 20200609 RGD protein:increased expression:myometrium PMID:16294022|REF_RGD_ID:2292153 11910669 PDGFA platelet derived growth factor subunit A gene DOID:1591 renovascular hypertension ISO RGD:3282 D RGD:9068941 20200609 RGD mRNA:increased expression:vascular associated smooth muscle cell PMID:17439406|REF_RGD_ID:2289672 11910669 PDGFA platelet derived growth factor subunit A gene DOID:1612 breast cancer ISO RGD:736070 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:8619189|REF_RGD_ID:2292155 11910669 PDGFA platelet derived growth factor subunit A gene DOID:2224 essential thrombocythemia ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15682418 11910669 PDGFA platelet derived growth factor subunit A gene DOID:2526 prostate adenocarcinoma ISO RGD:736070 D RGD:9068941 20200609 RGD protein:increased expression:prostate PMID:7524068|REF_RGD_ID:2292156 11910669 PDGFA platelet derived growth factor subunit A gene DOID:2696 Leydig cell tumor ISO RGD:736070 D RGD:9068941 20200609 RGD protein:increased expression:testis, leydig cell PMID:11994382|REF_RGD_ID:2298579 11910669 PDGFA platelet derived growth factor subunit A gene DOID:305 carcinoma ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 11910669 PDGFA platelet derived growth factor subunit A gene DOID:3070 high grade glioma ISO RGD:736070 D RGD:9068941 20200609 RGD in a mouse model PMID:21490965|REF_RGD_ID:13702894 11910669 PDGFA platelet derived growth factor subunit A gene DOID:3770 pulmonary fibrosis ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16324872 11910669 PDGFA platelet derived growth factor subunit A gene DOID:4989 pancreatitis ISO RGD:3282 D RGD:9068941 20200609 RGD associated with Reperfusion Injury;protein:increased expression:blood vessel PMID:16601314|REF_RGD_ID:2292161 11910669 PDGFA platelet derived growth factor subunit A gene DOID:630 genetic disease ISO RGD:736070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910669 PDGFA platelet derived growth factor subunit A gene DOID:6432 pulmonary hypertension ISO RGD:3282 D RGD:9068941 20200609 RGD PMID:8447423|REF_RGD_ID:1580847 11910669 PDGFA platelet derived growth factor subunit A gene DOID:850 lung disease ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20920717 11910669 PDGFA platelet derived growth factor subunit A gene DOID:8549 chronic ulcer of skin ISO RGD:3282 D RGD:9068941 20200609 RGD PMID:16383039|REF_RGD_ID:2292163 11910669 PDGFA platelet derived growth factor subunit A gene DOID:9000081 Lymphatic Metastasis ISO RGD:736070 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;mRNA:increased expression:breast PMID:8619189|REF_RGD_ID:2292155 11910669 PDGFA platelet derived growth factor subunit A gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 11910669 PDGFA platelet derived growth factor subunit A gene DOID:9000998 Brain Injuries ISO RGD:3282 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex, hippocampus PMID:9645955|REF_RGD_ID:11084932 11910669 PDGFA platelet derived growth factor subunit A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11910669 PDGFA platelet derived growth factor subunit A gene DOID:9001600 Wounds and Injuries ISO RGD:3282 D RGD:9068941 20200609 RGD PMID:18205704|REF_RGD_ID:2292158 11910669 PDGFA platelet derived growth factor subunit A gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:3282 D RGD:9068941 20200609 RGD PMID:11889420|REF_RGD_ID:11080974 11910669 PDGFA platelet derived growth factor subunit A gene DOID:9002165 Diabetic Nephropathies ISO RGD:736070 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin Dependent;mRNA, protein:increased expression:kidney PMID:12808179|REF_RGD_ID:2311649 11910669 PDGFA platelet derived growth factor subunit A gene DOID:9002231 Fetal Growth Retardation ISO RGD:736070 D RGD:9068941 20200609 RGD mRNA:increased expression:placenta PMID:11005132|REF_RGD_ID:2311066 11910669 PDGFA platelet derived growth factor subunit A gene DOID:9003566 Mesothelioma ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11415934 11910669 PDGFA platelet derived growth factor subunit A gene DOID:9004547 Thyroid Neoplasms ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 11910669 PDGFA platelet derived growth factor subunit A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3282 D RGD:9068941 20220324 RGD mRNA:increased expression:mammary gland (rat) PMID:16316942|REF_RGD_ID:2306898 11910669 PDGFA platelet derived growth factor subunit A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3282 D RGD:9068941 20220331 RGD mRNA, protein:increased expression:mammary gland (rat) PMID:12376462|REF_RGD_ID:2292404 11910669 PDGFA platelet derived growth factor subunit A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 11910669 PDGFA platelet derived growth factor subunit A gene DOID:9005988 Multicystic Dysplastic Kidney ISO RGD:736070 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:9200407|REF_RGD_ID:2298582 11910669 PDGFA platelet derived growth factor subunit A gene DOID:9007819 Endocrine Bone Diseases ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18635661 11910669 PDGFA platelet derived growth factor subunit A gene DOID:9008939 Breast Neoplasms ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:736788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:0080726 Ehlers-Danlos syndrome classic type 2 ISO RGD:736788 D RGD:7240710 20190315 OMIM 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:0080726 Ehlers-Danlos syndrome classic type 2 ISO RGD:736788 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: EHLERS DANLOS SYNDROME, MILD CLASSIC TYPE | ClinVar Annotator: match by term: EHLERS DANLOS SYNDROME, MITIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 PMID:11940702|PMID:17576681|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28492532|PMID:2855059|PMID:28550590|PMID:30467950|PMID:31829210|PMID:31903434|PMID:33161638|PMID:9536098 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:736788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A PMID:25741868|PMID:28492532 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:736788 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A PMID:17576681|PMID:25326637|PMID:25741868|PMID:28087566|PMID:28492532|PMID:30467950|PMID:33161638|PMID:9536098 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:736788 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A PMID:17576681|PMID:25741868|PMID:28087566|PMID:28492532|PMID:30467950|PMID:33161638|PMID:9536098 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:736788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type III PMID:25741868 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:0111944 immunodeficiency 31B ISO RGD:736788 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:736788 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:11940702|PMID:17576681|PMID:25741868|PMID:28132693|PMID:28492532|PMID:2855059|PMID:28550590|PMID:9536098 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:736788 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11940702|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28166811|PMID:28213671|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:33161638|PMID:9536098 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:736788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11940702|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25326637|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:33161638|PMID:9536098 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:736788 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11940702|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:32736638|PMID:33161638|PMID:9536098 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:14323 Marfan syndrome ISO RGD:736788 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532|PMID:28991257|PMID:31829210 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736788 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:20301422|PMID:20648054|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25326637|PMID:25741868|PMID:28132693|PMID:28166811|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:31903434|PMID:9425231|PMID:9536098|PMID:9783710 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736788 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28166811|PMID:28213671|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:31903434|PMID:33161638|PMID:9425231|PMID:9536098|PMID:9783710 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736788 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25326637|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28166811|PMID:28213671|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:31903434|PMID:33161638|PMID:9425231|PMID:9536098|PMID:9783710 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25741868|PMID:26188975|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31517854|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32235935|PMID:33161638|PMID:33834621|PMID:7695699|PMID:8218237|PMID:9425231|PMID:9536098|PMID:9783710 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736788 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25326637|PMID:25741868|PMID:26188975|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31517854|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32235935|PMID:33161638|PMID:33834621|PMID:7695699|PMID:8218237|PMID:9425231|PMID:9536098|PMID:9783710 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736788 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25741868|PMID:26188975|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31517854|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32235935|PMID:32736638|PMID:33161638|PMID:33834621|PMID:7695699|PMID:8218237|PMID:9425231|PMID:9536098|PMID:9783710 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:1588 thrombocytopenia ISO RGD:736788 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:1882 atrial heart septal defect ISO RGD:736788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:2213 hemorrhagic disease ISO RGD:736788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:5082 liver cirrhosis ISO RGD:736788 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:520 aortic disease ISO RGD:736788 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:25741868|PMID:28492532 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:630 genetic disease ISO RGD:736788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:65 connective tissue disease ISO RGD:736788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:17576681|PMID:25741868|PMID:28087566|PMID:28213671|PMID:28492532|PMID:2855059|PMID:28550590|PMID:9536098 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:9001287 Ehlers-Danlos Syndrome Type 4 ISO RGD:736788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 PMID:20648054|PMID:22696272|PMID:23587214|PMID:24922459|PMID:28492532 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736788 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:736788 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:9003591 Telecanthus ISO RGD:736788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Telecanthus PMID:25741868|PMID:28492532 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:736788 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532|PMID:28991257|PMID:31829210 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:9005890 Disproportionate Tall Stature ISO RGD:736788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disproportionate tall stature PMID:25741868|PMID:28492532 11910677 COL5A2 collagen type V alpha 2 chain gene DOID:9008296 Eye Abnormalities ISO RGD:736788 D RGD:9068941 20200609 RGD DNA:splicing error PMID:16431952|REF_RGD_ID:1600694 11910735 GSTT2B glutathione S-transferase theta 2B gene DOID:1826 epilepsy ISO RGD:1625818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11910735 GSTT2B glutathione S-transferase theta 2B gene DOID:5419 schizophrenia ISO RGD:1625818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11910735 GSTT2B glutathione S-transferase theta 2B gene DOID:630 genetic disease ISO RGD:1625818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910748 BICDL2 BICD family like cargo adaptor 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1626601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11910748 BICDL2 BICD family like cargo adaptor 2 gene DOID:1826 epilepsy ISO RGD:1626601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11910748 BICDL2 BICD family like cargo adaptor 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1626601 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11910748 BICDL2 BICD family like cargo adaptor 2 gene DOID:630 genetic disease ISO RGD:1626601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910782 CAMK1 calcium/calmodulin dependent protein kinase I gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:731618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 11910782 CAMK1 calcium/calmodulin dependent protein kinase I gene DOID:2843 long QT syndrome ISO RGD:731618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11910782 CAMK1 calcium/calmodulin dependent protein kinase I gene DOID:630 genetic disease ISO RGD:731618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910782 CAMK1 calcium/calmodulin dependent protein kinase I gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11910782 CAMK1 calcium/calmodulin dependent protein kinase I gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:731618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 11910804 ZRANB2 zinc finger RANBP2-type containing 2 gene DOID:1059 intellectual disability ISO RGD:736628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11910804 ZRANB2 zinc finger RANBP2-type containing 2 gene DOID:630 genetic disease ISO RGD:736628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910821 C6H6orf226 chromosome 6 C6orf226 homolog gene DOID:0050444 infantile Refsum disease ISO RGD:1602792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11910821 C6H6orf226 chromosome 6 C6orf226 homolog gene DOID:630 genetic disease ISO RGD:1602792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910821 C6H6orf226 chromosome 6 C6orf226 homolog gene DOID:905 Zellweger syndrome ISO RGD:1602792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11910826 C12H12orf57 chromosome 12 C12orf57 homolog gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1606749 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11910826 C12H12orf57 chromosome 12 C12orf57 homolog gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1606749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11910826 C12H12orf57 chromosome 12 C12orf57 homolog gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1606749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11910826 C12H12orf57 chromosome 12 C12orf57 homolog gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1606749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11910826 C12H12orf57 chromosome 12 C12orf57 homolog gene DOID:0111621 Temtamy syndrome ISO RGD:1606749 D RGD:7240710 20180130 OMIM 11910826 C12H12orf57 chromosome 12 C12orf57 homolog gene DOID:0111621 Temtamy syndrome ISO RGD:1606749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:16199547|PMID:17576681|PMID:21937992|PMID:23453665|PMID:23453666|PMID:23633300|PMID:24798461|PMID:25326635|PMID:25558065|PMID:25741868|PMID:28097321|PMID:28454995|PMID:28492532|PMID:28600779|PMID:29269699|PMID:29383837|PMID:9536098 11910826 C12H12orf57 chromosome 12 C12orf57 homolog gene DOID:1059 intellectual disability ISO RGD:1606749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11910826 C12H12orf57 chromosome 12 C12orf57 homolog gene DOID:630 genetic disease ISO RGD:1606749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11910826 C12H12orf57 chromosome 12 C12orf57 homolog gene DOID:9002947 Aicardi-Goutieres Syndrome 9 ISO RGD:1606749 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9 PMID:16547514|PMID:25741868|PMID:33230297|PMID:7667090 11910826 C12H12orf57 chromosome 12 C12orf57 homolog gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1606749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11910826 C12H12orf57 chromosome 12 C12orf57 homolog gene DOID:9008086 Developmental Disabilities ISO RGD:1606749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:21937992|PMID:23453665|PMID:23453666|PMID:23633300|PMID:24798461|PMID:25326635|PMID:25558065|PMID:25741868|PMID:28097321|PMID:28454995|PMID:28492532|PMID:28600779|PMID:29383837 11910838 WDR31 WD repeat domain 31 gene DOID:630 genetic disease ISO RGD:1319678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910865 RAB43 RAB43, member RAS oncogene family gene DOID:0111947 immunodeficiency 21 ISO RGD:1603859 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 11910865 RAB43 RAB43, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1603859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910865 RAB43 RAB43, member RAS oncogene family gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1603859 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 11910865 RAB43 RAB43, member RAS oncogene family gene DOID:9270 alkaptonuria ISO RGD:1603859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11910876 BIVM basic, immunoglobulin-like variable motif containing gene DOID:0110878 holoprosencephaly 5 ISO RGD:1323580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:28492532 11910876 BIVM basic, immunoglobulin-like variable motif containing gene DOID:14701 propionic acidemia ISO RGD:1323580 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 11910876 BIVM basic, immunoglobulin-like variable motif containing gene DOID:630 genetic disease ISO RGD:1323580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910876 BIVM basic, immunoglobulin-like variable motif containing gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1323580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11910876 BIVM basic, immunoglobulin-like variable motif containing gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:1323580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532 11910945 RPL23 ribosomal protein L23 gene DOID:630 genetic disease ISO RGD:1354324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11910954 TASOR transcription activation suppressor gene DOID:3070 high grade glioma ISO RGD:1604038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11910954 TASOR transcription activation suppressor gene DOID:630 genetic disease ISO RGD:1604038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910996 CCDC66 coiled-coil domain containing 66 gene DOID:10584 retinitis pigmentosa ISO RGD:1620471 D RGD:9068941 20220825 MouseDO OMIM:268000 11910996 CCDC66 coiled-coil domain containing 66 gene DOID:630 genetic disease ISO RGD:1605241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11910996 CCDC66 coiled-coil domain containing 66 gene DOID:8466 retinal degeneration ISO RGD:12351932 D RGD:9068941 20210604 OMIA Progressive retinal atrophy, CCDC66 related PMID:17327822|PMID:19777273|PMID:22065099|PMID:33273526 11911048 POU6F1 POU class 6 homeobox 1 gene DOID:630 genetic disease ISO RGD:731653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11911081 LGSN lengsin, lens protein with glutamine synthetase domain gene DOID:630 genetic disease ISO RGD:1344000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11911093 FAM229B family with sequence similarity 229 member B gene DOID:630 genetic disease ISO RGD:2298836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11911108 ISX intestine specific homeobox gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1605896 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35687267 11911108 ISX intestine specific homeobox gene DOID:630 genetic disease ISO RGD:1605896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11911117 NDUFV3 NADH:ubiquinone oxidoreductase subunit V3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1343620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11911117 NDUFV3 NADH:ubiquinone oxidoreductase subunit V3 gene DOID:0110266 cataract 9 multiple types ISO RGD:1343620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11911117 NDUFV3 NADH:ubiquinone oxidoreductase subunit V3 gene DOID:630 genetic disease ISO RGD:1343620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11911117 NDUFV3 NADH:ubiquinone oxidoreductase subunit V3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1343620 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11911117 NDUFV3 NADH:ubiquinone oxidoreductase subunit V3 gene DOID:9263 homocystinuria ISO RGD:1343620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11911117 NDUFV3 NADH:ubiquinone oxidoreductase subunit V3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11911128 EFNA5 ephrin A5 gene DOID:0060668 anencephaly ISO RGD:732052 D RGD:9068941 20220825 MouseDO OMIM:206500 11911128 EFNA5 ephrin A5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350398 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11911128 EFNA5 ephrin A5 gene DOID:0080600 COVID-19 ISO RGD:1350398 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11911128 EFNA5 ephrin A5 gene DOID:630 genetic disease ISO RGD:1350398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11911128 EFNA5 ephrin A5 gene DOID:9004009 Reperfusion Injury ISO RGD:1350398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 11911128 EFNA5 ephrin A5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11911128 EFNA5 ephrin A5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350398 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11911138 SRSF3 serine and arginine rich splicing factor 3 gene DOID:0050553 JMP syndrome ISO RGD:1319459 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11911138 SRSF3 serine and arginine rich splicing factor 3 gene DOID:2152 ovary epithelial cancer ISO RGD:1319459 D RGD:9068941 20200609 RGD mRNA:increased expression:epithelium of female gonad (human) PMID:23748175|REF_RGD_ID:11039469 11911138 SRSF3 serine and arginine rich splicing factor 3 gene DOID:3312 bipolar disorder ISO RGD:1319459 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:18281098|REF_RGD_ID:11039413 11911138 SRSF3 serine and arginine rich splicing factor 3 gene DOID:630 genetic disease ISO RGD:1319459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11911138 SRSF3 serine and arginine rich splicing factor 3 gene DOID:9002498 Wallerian Degeneration ISO RGD:1309233 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:8568916|REF_RGD_ID:10059662 11911148 USP21 ubiquitin specific peptidase 21 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1349681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11911148 USP21 ubiquitin specific peptidase 21 gene DOID:1540 parathyroid carcinoma ISO RGD:1349681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11911148 USP21 ubiquitin specific peptidase 21 gene DOID:630 genetic disease ISO RGD:1349681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11911148 USP21 ubiquitin specific peptidase 21 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11911179 LIPT2-AS1 LIPT2 antisense RNA 1 gene DOID:630 genetic disease ISO RGD:1606877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11911179 LIPT2-AS1 LIPT2 antisense RNA 1 gene DOID:9007560 Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities ISO RGD:1606877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities PMID:25741868|PMID:28492532|PMID:28757203 11911185 MYO5A myosin VA gene DOID:0060832 Griscelli syndrome type 1 ISO RGD:731453 D RGD:7240710 20180130 OMIM 11911185 MYO5A myosin VA gene DOID:0060832 Griscelli syndrome type 1 ISO RGD:731453 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 1 PMID:10704277|PMID:12058346|PMID:17576681|PMID:25326635|PMID:25741868|PMID:28492532|PMID:32275080|PMID:9207796|PMID:9536098 11911185 MYO5A myosin VA gene DOID:0060834 Griscelli syndrome type 3 ISO RGD:731453 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 3 PMID:12148598|PMID:12897212|PMID:22711375|PMID:25283056 11911185 MYO5A myosin VA gene DOID:1059 intellectual disability ISO RGD:731453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11911185 MYO5A myosin VA gene DOID:2717 Bloom syndrome ISO RGD:731453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11911185 MYO5A myosin VA gene DOID:543 dystonia ISO RGD:731453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder 11911185 MYO5A myosin VA gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:731453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11911185 MYO5A myosin VA gene DOID:574 peripheral nervous system disease ISO RGD:731453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 11911185 MYO5A myosin VA gene DOID:607 paraplegia ISO RGD:731453 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 11911185 MYO5A myosin VA gene DOID:630 genetic disease ISO RGD:731453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11911185 MYO5A myosin VA gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11911185 MYO5A myosin VA gene DOID:9005835 Congenital Abnormalities no_association ISO RGD:731453 D RGD:9068941 20200609 RGD Griscelli syndrome type I. OMIM:214450 PMID:12058346|REF_RGD_ID:1600821 11911185 MYO5A myosin VA gene DOID:9256 colorectal cancer ISO RGD:731453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11911232 LOC100986481 cytochrome c gene DOID:12858 Huntington's disease severity ISO RGD:10425 D RGD:9068941 20200609 RGD protein:altered localization:cytosol PMID:12095160|REF_RGD_ID:13432083 11911232 LOC100986481 cytochrome c gene DOID:12858 Huntington's disease severity ISO RGD:1604618 D RGD:9068941 20200609 RGD protein:altered localization:cytosol PMID:12095160|REF_RGD_ID:13432083 11911232 LOC100986481 cytochrome c gene DOID:14749 methylmalonic acidemia ISO RGD:1604618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 11911232 LOC100986481 cytochrome c gene DOID:1588 thrombocytopenia ISO RGD:1604618 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:18345000|PMID:22102269|PMID:24326104|PMID:25741868|PMID:31064749|PMID:32581362|PMID:34355501 11911232 LOC100986481 cytochrome c gene DOID:1588 thrombocytopenia no_association ISO RGD:1604618 D RGD:9068941 20200609 RGD PMID:19172527|REF_RGD_ID:11352702 11911232 LOC100986481 cytochrome c gene DOID:1793 pancreatic cancer ISO RGD:1604618 D RGD:9068941 20200609 RGD PMID:11920648|REF_RGD_ID:2317614 11911232 LOC100986481 cytochrome c gene DOID:2213 hemorrhagic disease ISO RGD:1604618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 11911232 LOC100986481 cytochrome c gene DOID:224 transient cerebral ischemia ISO RGD:1604618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11333366 11911232 LOC100986481 cytochrome c gene DOID:2316 brain ischemia ISO RGD:1604618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11756504 11911232 LOC100986481 cytochrome c gene DOID:326 ischemia ISO RGD:1604618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15172883 11911232 LOC100986481 cytochrome c gene DOID:3907 lung squamous cell carcinoma treatment ISO RGD:1604618 D RGD:9068941 20200609 RGD PMID:25578497|REF_RGD_ID:13792769 11911232 LOC100986481 cytochrome c gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1604618 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:25578497|REF_RGD_ID:13792769 11911232 LOC100986481 cytochrome c gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1604618 D RGD:9068941 20200609 RGD PMID:25578497|REF_RGD_ID:13792769 11911232 LOC100986481 cytochrome c gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11911232 LOC100986481 cytochrome c gene DOID:4947 cholangiocarcinoma ISO RGD:1604618 D RGD:9068941 20200609 RGD PMID:19788692|REF_RGD_ID:2317615 11911232 LOC100986481 cytochrome c gene DOID:9000081 Lymphatic Metastasis ISO RGD:1604618 D RGD:9068941 20200609 RGD associated with non-small cell lung carcinoma; protein:decreased expression:serum PMID:25578497|REF_RGD_ID:13792769 11911232 LOC100986481 cytochrome c gene DOID:9001341 Chloracne ISO RGD:1604618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 11911232 LOC100986481 cytochrome c gene DOID:9008648 Thrombocytopenia 4 ISO RGD:1604618 D RGD:7240710 20180130 OMIM 11911232 LOC100986481 cytochrome c gene DOID:9008648 Thrombocytopenia 4 ISO RGD:1604618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 4 PMID:18345000|PMID:22102269|PMID:24326104|PMID:25741868|PMID:28492532|PMID:30051457|PMID:31064749|PMID:34355501 11911232 LOC100986481 cytochrome c gene DOID:9008726 Neoplasm Micrometastasis ISO RGD:1604618 D RGD:9068941 20200609 RGD associated with non-small cell lung carcinoma; protein:decreased expression:serum PMID:25578497|REF_RGD_ID:13792769 11911232 LOC100986481 cytochrome c gene DOID:9452 fatty liver disease ISO RGD:1604618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10860543 11911232 LOC100986481 cytochrome c gene DOID:9970 obesity ISO RGD:1604618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16317704 11911239 CHST15 carbohydrate sulfotransferase 15 gene DOID:630 genetic disease ISO RGD:1602484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11911239 CHST15 carbohydrate sulfotransferase 15 gene DOID:9005172 Lung Neoplasms ISO RGD:1602484 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 11911257 SMIM6 small integral membrane protein 6 gene DOID:630 genetic disease ISO RGD:5134215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11911268 OAS1 2'-5'-oligoadenylate synthetase 1 gene DOID:0080600 COVID-19 ISO RGD:1345660 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: OAS1 polymorphism PMID:16014697|PMID:28492532 11911268 OAS1 2'-5'-oligoadenylate synthetase 1 gene DOID:630 genetic disease ISO RGD:1345660 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29455859|PMID:34145065 11911268 OAS1 2'-5'-oligoadenylate synthetase 1 gene DOID:9001488 Human Influenza ISO RGD:1345660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11911268 OAS1 2'-5'-oligoadenylate synthetase 1 gene DOID:9002124 IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA ISO RGD:1345660 D RGD:7240710 20220713 OMIM 11911268 OAS1 2'-5'-oligoadenylate synthetase 1 gene DOID:9002124 IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA ISO RGD:1345660 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pulmonary alveolar proteinosis with hypogammaglobulinemia PMID:25741868|PMID:28492532|PMID:29185156|PMID:29455859|PMID:34145065 11911268 OAS1 2'-5'-oligoadenylate synthetase 1 gene DOID:934 viral infectious disease ISO RGD:1345660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15732009 11911290 KRT76 keratin 76 gene DOID:630 genetic disease ISO RGD:1605387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11911303 FBXO43 F-box protein 43 gene DOID:0111590 Cohen syndrome ISO RGD:1321003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 11911303 FBXO43 F-box protein 43 gene DOID:0112353 spermatogenic failure 64 ISO RGD:1321003 D RGD:7240710 20220112 OMIM 11911303 FBXO43 F-box protein 43 gene DOID:0112353 spermatogenic failure 64 ISO RGD:1321003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 64 PMID:30878252|PMID:34052850|PMID:34595750 11911303 FBXO43 F-box protein 43 gene DOID:630 genetic disease ISO RGD:1321003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11911303 FBXO43 F-box protein 43 gene DOID:9003492 Oocyte/Zygote/Embryo Maturation Arrest 12 ISO RGD:1321003 D RGD:7240710 20220112 OMIM 11911303 FBXO43 F-box protein 43 gene DOID:9003492 Oocyte/Zygote/Embryo Maturation Arrest 12 ISO RGD:1321003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 12 PMID:34052850|PMID:34595750 11911328 RENBP renin binding protein gene DOID:0050454 periventricular nodular heterotopia ISO RGD:732186 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11911328 RENBP renin binding protein gene DOID:0050476 Barth syndrome ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11911328 RENBP renin binding protein gene DOID:0050800 creatine transporter deficiency ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 11911328 RENBP renin binding protein gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 11911328 RENBP renin binding protein gene DOID:0080600 COVID-19 ISO RGD:732186 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11911328 RENBP renin binding protein gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 11911328 RENBP renin binding protein gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 11911328 RENBP renin binding protein gene DOID:0111788 Melnick-Needles syndrome ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 11911328 RENBP renin binding protein gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 11911328 RENBP renin binding protein gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:732186 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 11911328 RENBP renin binding protein gene DOID:0112003 immunodeficiency 33 ISO RGD:732186 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11911328 RENBP renin binding protein gene DOID:10588 adrenoleukodystrophy ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11911328 RENBP renin binding protein gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11911328 RENBP renin binding protein gene DOID:12849 autistic disorder ISO RGD:732186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11911328 RENBP renin binding protein gene DOID:12930 dilated cardiomyopathy ISO RGD:732186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12612874 11911328 RENBP renin binding protein gene DOID:13628 favism ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11911328 RENBP renin binding protein gene DOID:2729 dyskeratosis congenita ISO RGD:732186 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11911328 RENBP renin binding protein gene DOID:607 paraplegia ISO RGD:732186 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11911328 RENBP renin binding protein gene DOID:630 genetic disease ISO RGD:732186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11911328 RENBP renin binding protein gene DOID:9002720 Splenomegaly ISO RGD:732186 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11911328 RENBP renin binding protein gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:15689435|PMID:16080119|PMID:28492532 11911328 RENBP renin binding protein gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 11911342 FAM162B family with sequence similarity 162 member B gene DOID:0060163 body dysmorphic disorder ISO RGD:1351794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 11911342 FAM162B family with sequence similarity 162 member B gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1351794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 11911342 FAM162B family with sequence similarity 162 member B gene DOID:1059 intellectual disability ISO RGD:1351794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 11911342 FAM162B family with sequence similarity 162 member B gene DOID:10907 microcephaly ISO RGD:1351794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 11911342 FAM162B family with sequence similarity 162 member B gene DOID:1826 epilepsy ISO RGD:1351794 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11911342 FAM162B family with sequence similarity 162 member B gene DOID:630 genetic disease ISO RGD:1351794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11911342 FAM162B family with sequence similarity 162 member B gene DOID:9000495 Tremor ISO RGD:1351794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 11911342 FAM162B family with sequence similarity 162 member B gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11911355 FBXO41 F-box protein 41 gene DOID:0050473 Alstrom syndrome ISO RGD:1351223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 11911355 FBXO41 F-box protein 41 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1351223 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11911355 FBXO41 F-box protein 41 gene DOID:543 dystonia ISO RGD:1351223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11911355 FBXO41 F-box protein 41 gene DOID:630 genetic disease ISO RGD:1351223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11911355 FBXO41 F-box protein 41 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1351223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11911370 RHBDD1 rhomboid domain containing 1 gene DOID:1793 pancreatic cancer ISO RGD:1601951 D RGD:9068941 20230309 CTD CTD Direct Evidence: therapeutic PMID:35442567 11911370 RHBDD1 rhomboid domain containing 1 gene DOID:630 genetic disease ISO RGD:1601951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11911387 IKZF1 IKAROS family zinc finger 1 gene DOID:0060058 lymphoma ISO RGD:1345718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11980663 11911387 IKZF1 IKAROS family zinc finger 1 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1345718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24141364 11911387 IKZF1 IKAROS family zinc finger 1 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma disease_progression ISO RGD:1345718 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:22699455|REF_RGD_ID:11075072 11911387 IKZF1 IKAROS family zinc finger 1 gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:1345718 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive 11911387 IKZF1 IKAROS family zinc finger 1 gene DOID:0081155 common variable immunodeficiency 13 ISO RGD:1345718 D RGD:7240710 20190315 OMIM 11911387 IKZF1 IKAROS family zinc finger 1 gene DOID:0081155 common variable immunodeficiency 13 ISO RGD:1345718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 13 PMID:21548011|PMID:25741868|PMID:26981933|PMID:27939403|PMID:28492532|PMID:28927821|PMID:30940614|PMID:31057532|PMID:31089937 11911387 IKZF1 IKAROS family zinc finger 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1345718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11911387 IKZF1 IKAROS family zinc finger 1 gene DOID:3307 teratoma ISO RGD:1345718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 11911387 IKZF1 IKAROS family zinc finger 1 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1345718 D RGD:9068941 20220204 RGD mRNA:increased expression:lung (human) PMID:33738286|REF_RGD_ID:151347632 11911387 IKZF1 IKAROS family zinc finger 1 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1345718 D RGD:9068941 20211231 RGD protein:increased expression:lung (human) PMID:32787735|REF_RGD_ID:150540324 11911387 IKZF1 IKAROS family zinc finger 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11911387 IKZF1 IKAROS family zinc finger 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1345718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868|PMID:26981933|PMID:27939403|PMID:28096536|PMID:28492532|PMID:29889099|PMID:32319000|PMID:32499645|PMID:32531373 11911387 IKZF1 IKAROS family zinc finger 1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1345718 D RGD:9068941 20211231 RGD protein:increased expression:liver (human) PMID:25301737|REF_RGD_ID:150540326 11911387 IKZF1 IKAROS family zinc finger 1 gene DOID:8577 ulcerative colitis ISO RGD:1345718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 11911387 IKZF1 IKAROS family zinc finger 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345718 D RGD:9068941 20211231 RGD associated with colorectal cancer;DNA:polymorphisms: PMID:31320627|REF_RGD_ID:150540328 11911387 IKZF1 IKAROS family zinc finger 1 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1345718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 11911387 IKZF1 IKAROS family zinc finger 1 gene DOID:9009142 Diamond-Blackfan Anemia-Like ISO RGD:1345718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia-like 11911387 IKZF1 IKAROS family zinc finger 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1345718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838193 11911387 IKZF1 IKAROS family zinc finger 1 gene DOID:9256 colorectal cancer ISO RGD:1345718 D RGD:9068941 20211231 RGD DNA:hypermethylation:promoter (human) PMID:29780264|PMID:31010820|REF_RGD_ID:150540322|REF_RGD_ID:150540329 11911387 IKZF1 IKAROS family zinc finger 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1345718 D RGD:9068941 20211231 RGD DNA:hypermethylation: (human) PMID:25928810|PMID:29796114|PMID:33478584|REF_RGD_ID:150540320|REF_RGD_ID:150540323|REF_RGD_ID:150540327 11911387 IKZF1 IKAROS family zinc finger 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1345718 D RGD:9068941 20211231 RGD DNA:hypermethylation:promoter (human) PMID:21737484|REF_RGD_ID:150540325 11911387 IKZF1 IKAROS family zinc finger 1 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1345718 D RGD:9068941 20220204 RGD DNA:hypermethylation: (human) PMID:27726312|PMID:29992492|PMID:31909823|PMID:32958500|REF_RGD_ID:150540317|REF_RGD_ID:150540319|REF_RGD_ID:150540321|REF_RGD_ID:151347633 11911387 IKZF1 IKAROS family zinc finger 1 gene DOID:9256 colorectal cancer severity ISO RGD:1345718 D RGD:9068941 20211231 RGD DNA:polymorphisms: (human) PMID:31320627|REF_RGD_ID:150540328 11911387 IKZF1 IKAROS family zinc finger 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1345718 D RGD:9068941 20211231 RGD DNA:SNP:3' utr: (rs6964823) (human) PMID:33723131|REF_RGD_ID:150540318 11911387 IKZF1 IKAROS family zinc finger 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1345718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphocytic, susceptibility to, 2 PMID:25741868|PMID:28492532 11911408 SAMD11 sterile alpha motif domain containing 11 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1353453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11911408 SAMD11 sterile alpha motif domain containing 11 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1353453 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11911408 SAMD11 sterile alpha motif domain containing 11 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1353453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11911408 SAMD11 sterile alpha motif domain containing 11 gene DOID:0111934 immunodeficiency 38 ISO RGD:1353453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11911408 SAMD11 sterile alpha motif domain containing 11 gene DOID:0111935 immunodeficiency 16 ISO RGD:1353453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11911408 SAMD11 sterile alpha motif domain containing 11 gene DOID:10584 retinitis pigmentosa ISO RGD:1353453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 11911408 SAMD11 sterile alpha motif domain containing 11 gene DOID:630 genetic disease ISO RGD:1353453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11911408 SAMD11 sterile alpha motif domain containing 11 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11911408 SAMD11 sterile alpha motif domain containing 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11911408 SAMD11 sterile alpha motif domain containing 11 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1353453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11911424 SH3GL2 SH3 domain containing GRB2 like 2, endophilin A1 gene DOID:11832 visual epilepsy ISO RGD:620276 D RGD:9068941 20200609 RGD PMID:14751282|REF_RGD_ID:13464355 11911424 SH3GL2 SH3 domain containing GRB2 like 2, endophilin A1 gene DOID:630 genetic disease ISO RGD:1343139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11911437 ADGRD1 adhesion G protein-coupled receptor D1 gene DOID:630 genetic disease ISO RGD:1344919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11911481 RAB17 RAB17, member RAS oncogene family gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1346493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11911481 RAB17 RAB17, member RAS oncogene family gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1346493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11911481 RAB17 RAB17, member RAS oncogene family gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1346493 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11911481 RAB17 RAB17, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1346493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11911481 RAB17 RAB17, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1346493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11911481 RAB17 RAB17, member RAS oncogene family gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1346493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11911507 WDR43 WD repeat domain 43 gene DOID:630 genetic disease ISO RGD:1344839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11911507 WDR43 WD repeat domain 43 gene DOID:9009095 Neuroblastoma 3 ISO RGD:1344839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 PMID:28492532 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:619563 D RGD:9068941 20210423 RGD PMID:11673832|REF_RGD_ID:126781761 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:0050902 medulloblastoma ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20168248 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:0060074 ductal carcinoma in situ ISO RGD:619563 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17119686|REF_RGD_ID:2289931 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:0060074 ductal carcinoma in situ disease_progression ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:15788662|REF_RGD_ID:2289981 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:619563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:10283 prostate cancer ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:10487 Hirschsprung's disease ISO RGD:10533 D RGD:9068941 20200609 RGD PMID:12526770|REF_RGD_ID:734940 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:10487 Hirschsprung's disease ISO RGD:10533 D RGD:9068941 20220825 MouseDO OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:10534 stomach cancer ISO RGD:619563 D RGD:7240710 20220209 OMIM 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:10534 stomach cancer ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:15457249|PMID:18339846|PMID:25157968 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:10591 pre-eclampsia ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:9158311|REF_RGD_ID:1580990 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:11054 urinary bladder cancer ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:16771730|REF_RGD_ID:2289934 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:11054 urinary bladder cancer ISO RGD:619563 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34291863 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:16685269|REF_RGD_ID:2298502 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:1107 esophageal carcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus PMID:16397024|PMID:23220880|PMID:25157968|PMID:26619011 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:10533 D RGD:9068941 20200609 RGD PMID:12072561|REF_RGD_ID:734939 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:10533 D RGD:9068941 20220825 MouseDO 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:15685397|REF_RGD_ID:1580988 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:13133 HELLP syndrome ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:9158311|REF_RGD_ID:1580990 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:1324 lung cancer ISO RGD:619563 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:1681519|PMID:24033266|PMID:24728327|PMID:28492532|PMID:2999974|PMID:3003577|PMID:8095488 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:14330 Parkinson's disease ISO RGD:619563 D RGD:9068941 20200609 RGD protein:decreased expression:forebrain PMID:15857400|REF_RGD_ID:2289955 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:14566 disease of cellular proliferation ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:15457249|PMID:18339846|PMID:22908275|PMID:25157968|PMID:26619011 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:1612 breast cancer ISO RGD:10533 D RGD:9068941 20220825 MouseDO OMIM:114480 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:182 calcinosis ISO RGD:619563 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:increased expression:breast PMID:18256879|REF_RGD_ID:2289923 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:1909 melanoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:18413839|PMID:22046346|PMID:23220880|PMID:25157968|PMID:26619011 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:2154 nephroblastoma ISO RGD:619563 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:16932912|REF_RGD_ID:2289932 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:2394 ovarian cancer ISO RGD:619563 D RGD:7240710 20210818 OMIM 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:2513 basal cell carcinoma ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:2526 prostate adenocarcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:23220880|PMID:26619011 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:2615 papilloma ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8603490 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:2671 transitional cell carcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:16397024|PMID:18413839|PMID:22046346|PMID:22908275|PMID:23220880|PMID:25157968|PMID:26619011 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:2671 transitional cell carcinoma severity ISO RGD:619563 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:17987577|REF_RGD_ID:2289927 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:619563 D RGD:9068941 20210423 RGD PMID:22549618|REF_RGD_ID:126790474 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:299 adenocarcinoma ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21673877|PMID:22042947 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:3008 invasive ductal carcinoma ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28235801 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:3070 high grade glioma ISO RGD:619563 D RGD:7240710 20230505 OMIM 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:3070 high grade glioma ISO RGD:619563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:15457249|PMID:24728327|PMID:25741868|PMID:26094658|PMID:28492532|PMID:29868112 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:3443 mammary Paget's disease ISO RGD:619563 D RGD:9068941 20200609 RGD DNA:amplification PMID:16932067|REF_RGD_ID:2289933 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:3457 invasive lobular carcinoma severity ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:16761510|REF_RGD_ID:2289935 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:363 uterine cancer ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:16397024|PMID:18413839|PMID:22046346|PMID:23220880|PMID:25157968|PMID:26619011|PMID:28492532 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:3713 ovary adenocarcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian adenocarcinoma PMID:15457249|PMID:18339846 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:3717 gastric adenocarcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:15457249|PMID:16397024|PMID:16988931|PMID:18339846|PMID:18413839|PMID:22046346|PMID:22908275|PMID:23220880|PMID:24033266|PMID:24516025|PMID:25157968|PMID:26619011|PMID:28492532 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:15457249|PMID:15753357|PMID:16638863|PMID:16863509|PMID:18334834|PMID:22325357|PMID:22761469|PMID:24033266|PMID:25157968 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:3910 lung adenocarcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:15457249|PMID:22908275|PMID:24033266|PMID:26619011 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:619563 D RGD:9068941 20210423 RGD PMID:26824984|REF_RGD_ID:126790475 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:4001 ovarian carcinoma ISO RGD:619563 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:16397024|PMID:23220880|PMID:26619011|PMID:28492532 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:4450 renal cell carcinoma ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10897039 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:4450 renal cell carcinoma ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:17296437|REF_RGD_ID:2289930 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:4450 renal cell carcinoma ISO RGD:619563 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:15360049|REF_RGD_ID:2289987 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:4465 papillary renal cell carcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:18413839|PMID:22046346|PMID:23220880|PMID:25157968|PMID:26619011 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:4947 cholangiocarcinoma ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16818635 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:4948 gallbladder carcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of gallbladder PMID:16397024|PMID:23220880|PMID:26619011|PMID:28492532 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:5517 stomach carcinoma disease_progression ISO RGD:619563 D RGD:9068941 20210423 RGD PMID:21709195|REF_RGD_ID:126781768 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma PMID:22908275|PMID:26619011 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:5520 head and neck squamous cell carcinoma disease_progression ISO RGD:619563 D RGD:9068941 20210423 RGD PMID:20604875|REF_RGD_ID:126790467 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:571 median neuropathy ISO RGD:2561 D RGD:9068941 20200609 RGD PMID:19296522|REF_RGD_ID:10449020 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:22908275|PMID:26619011 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:6000 congestive heart failure ISO RGD:2561 D RGD:9068941 20200609 RGD PMID:10421602|REF_RGD_ID:1580989 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:6171 uterine carcinosarcoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:16397024|PMID:23220880|PMID:26619011|PMID:28492532 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:630 genetic disease ISO RGD:619563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:8923 skin melanoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:18413839|PMID:22046346|PMID:23220880|PMID:25157968|PMID:26619011 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24997986 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21532492 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:619563 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;DNA, protein:polymorphism, increased expression:serum:p.I655V PMID:18237248|REF_RGD_ID:2289925 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:619563 D RGD:9068941 20200609 RGD associated with Carcinoma, Transitional Cell;protein:increased expression:urinary bladder PMID:18097576|REF_RGD_ID:2289926 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:619563 D RGD:9068941 20220901 RGD associated with lung adenocarcinoma; protein:increased expression:lung (human) PMID:21966491|REF_RGD_ID:153344600 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22042947 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:619563 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:15640503|PMID:21532492|PMID:22042947 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8603490 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000918 Disease Progression ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10897039|PMID:21638049|PMID:21750559 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:2561 D RGD:9068941 20200609 RGD rat gene in a mouse model PMID:11238891|REF_RGD_ID:734938 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16984552 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9002170 Experimental Neoplasms ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14612517 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:16771730|REF_RGD_ID:2289934 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11222871|PMID:16984552|PMID:17363613 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9002498 Wallerian Degeneration ISO RGD:2561 D RGD:9068941 20200609 RGD PMID:9030624|REF_RGD_ID:68774 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:15457249|PMID:18339846 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9002801 Recurrence ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20079691|PMID:21638049|PMID:26124351 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11222871 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:16397024|PMID:22908275|PMID:23220880|PMID:25157968|PMID:26619011 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:16157365|REF_RGD_ID:2298504 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:619563 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17465227|REF_RGD_ID:2289947 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9003774 Familial Visceral Neuropathy 2, Autosomal Recessive ISO RGD:619563 D RGD:7240710 20211103 OMIM 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9003774 Familial Visceral Neuropathy 2, Autosomal Recessive ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visceral neuropathy, familial, 2, autosomal recessive PMID:33497358 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:16962163|REF_RGD_ID:2289950 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:16360440|REF_RGD_ID:2298503 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16984552 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9005172 Lung Neoplasms ISO RGD:619563 D RGD:7240710 20180130 OMIM 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2561 D RGD:9068941 20200609 RGD PMID:1913683|REF_RGD_ID:2289920 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2561 D RGD:9068941 20200609 RGD Androgen-dependent PMID:12150826|REF_RGD_ID:6482679 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25221644|PMID:8603490 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:17203220|REF_RGD_ID:2289979 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9006205 Animal Disease Models ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22302033 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9006796 Gastrointestinal Neoplasms ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21673877 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:2561 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expresssion:left ventricle myocardium PMID:22285193|REF_RGD_ID:10449013 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:15685397|REF_RGD_ID:1580988 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:2561 D RGD:9068941 20200609 RGD protein:increased expression:oral epithelium PMID:17704947|REF_RGD_ID:2289941 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9007568 Circulating Neoplastic Cells ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29044505 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9007702 Carcinogenesis ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25221644 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:18202752|REF_RGD_ID:2298490 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9007715 Endometrial Neoplasms severity ISO RGD:619563 D RGD:9068941 20200609 RGD DNA:amplification PMID:17945336|REF_RGD_ID:2298491 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:18413839|PMID:22046346|PMID:23220880|PMID:25157968|PMID:26619011 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9008114 Helicobacter Infections treatment ISO RGD:619563 D RGD:9068941 20200911 RGD associated with gastritis; PMID:25051417|REF_RGD_ID:38599160 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:16397024|PMID:16988931|PMID:18413839|PMID:22046346|PMID:22908275|PMID:23220880|PMID:24033266|PMID:24516025|PMID:25157968|PMID:26619011|PMID:28492532 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:15753357|PMID:16397024|PMID:16863509|PMID:16988931|PMID:18413839|PMID:22046346|PMID:22908275|PMID:23220880|PMID:24033266|PMID:24516025|PMID:25157968|PMID:26619011|PMID:28492532 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:619563 D RGD:9068941 20200609 RGD mRNA:increased expression:blood PMID:18269779|REF_RGD_ID:2289921 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9008939 Breast Neoplasms treatment ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:16609042|REF_RGD_ID:10401078 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:619563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:17576681|PMID:28492532|PMID:9536098 11911529 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9256 colorectal cancer ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 11911567 MARCHF6 membrane associated ring-CH-type finger 6 gene DOID:0111695 familial adult myoclonic epilepsy 3 ISO RGD:1343716 D RGD:7240710 20191127 OMIM 11911567 MARCHF6 membrane associated ring-CH-type finger 6 gene DOID:0111695 familial adult myoclonic epilepsy 3 ISO RGD:1343716 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 3 11911567 MARCHF6 membrane associated ring-CH-type finger 6 gene DOID:630 genetic disease ISO RGD:1343716 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11911597 IGSF10 immunoglobulin superfamily member 10 gene DOID:0050579 glycogen storage disease XV ISO RGD:1352652 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 11911597 IGSF10 immunoglobulin superfamily member 10 gene DOID:0111586 Martsolf syndrome 1 ISO RGD:1352652 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:25741868 11911597 IGSF10 immunoglobulin superfamily member 10 gene DOID:5426 primary ovarian insufficiency ISO RGD:1352652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:28492532|PMID:31042289 11911597 IGSF10 immunoglobulin superfamily member 10 gene DOID:630 genetic disease ISO RGD:1352652 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11911606 FTH1 ferritin heavy chain 1 gene DOID:0050662 bestrophinopathy ISO RGD:732498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy PMID:25741868|PMID:28492532 11911606 FTH1 ferritin heavy chain 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:732498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21785164 11911606 FTH1 ferritin heavy chain 1 gene DOID:0080600 COVID-19 severity ISO RGD:732498 D RGD:9068941 20200625 RGD associated with hyperglycemia;protein:increased expression:serum (human) PMID:32406594|REF_RGD_ID:32698682 11911606 FTH1 ferritin heavy chain 1 gene DOID:0080600 COVID-19 severity ISO RGD:732498 D RGD:9068941 20200625 RGD protein:increased expression:serum (human) PMID:32365221|REF_RGD_ID:30310229 11911606 FTH1 ferritin heavy chain 1 gene DOID:0110396 retinitis pigmentosa 50 ISO RGD:732498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 50 PMID:25741868|PMID:28492532 11911606 FTH1 ferritin heavy chain 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:732498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11911606 FTH1 ferritin heavy chain 1 gene DOID:0111031 hemochromatosis type 5 ISO RGD:732498 D RGD:7240710 20180130 OMIM 11911606 FTH1 ferritin heavy chain 1 gene DOID:0111031 hemochromatosis type 5 ISO RGD:732498 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 5 PMID:11389486|PMID:14615048|PMID:28492532 11911606 FTH1 ferritin heavy chain 1 gene DOID:0111569 autosomal dominant vitreoretinochoroidopathy ISO RGD:732498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant vitreoretinochoroidopathy PMID:14615048|PMID:25741868|PMID:28492532|PMID:28687848 11911606 FTH1 ferritin heavy chain 1 gene DOID:10584 retinitis pigmentosa ISO RGD:732498 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:14615048|PMID:25741868|PMID:28492532 11911606 FTH1 ferritin heavy chain 1 gene DOID:10584 retinitis pigmentosa ISO RGD:732498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:14615048|PMID:25741868|PMID:28492532|PMID:28687848 11911606 FTH1 ferritin heavy chain 1 gene DOID:1059 intellectual disability ISO RGD:732498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11911606 FTH1 ferritin heavy chain 1 gene DOID:1289 neurodegenerative disease ISO RGD:732498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 11911606 FTH1 ferritin heavy chain 1 gene DOID:1596 depressive disorder ISO RGD:732498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17063146 11911606 FTH1 ferritin heavy chain 1 gene DOID:1790 malignant mesothelioma ISO RGD:732498 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26818092 11911606 FTH1 ferritin heavy chain 1 gene DOID:2773 contact dermatitis ISO RGD:732498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11911606 FTH1 ferritin heavy chain 1 gene DOID:3070 high grade glioma ISO RGD:732498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21385903 11911606 FTH1 ferritin heavy chain 1 gene DOID:6000 congestive heart failure ISO RGD:2635 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:18992754|REF_RGD_ID:2315110 11911606 FTH1 ferritin heavy chain 1 gene DOID:630 genetic disease ISO RGD:732498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11911606 FTH1 ferritin heavy chain 1 gene DOID:684 hepatocellular carcinoma ISO RGD:2635 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:9054589|REF_RGD_ID:632698 11911606 FTH1 ferritin heavy chain 1 gene DOID:9000058 Keloid ISO RGD:732498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 11911606 FTH1 ferritin heavy chain 1 gene DOID:9002891 Vitelliform Macular Dystrophy 2 ISO RGD:732498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 PMID:13129869|PMID:14615048|PMID:25741868|PMID:28492532|PMID:28687848 11911606 FTH1 ferritin heavy chain 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20390345 11911606 FTH1 ferritin heavy chain 1 gene DOID:9005725 Iron Overload ISO RGD:732498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Iron Overload PMID:14615048|PMID:25741868|PMID:28492532|PMID:28687848 11911606 FTH1 ferritin heavy chain 1 gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:2635 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:22639386|REF_RGD_ID:11541085 11911613 CD300LD CD300 molecule like family member d gene DOID:630 genetic disease ISO RGD:2290269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11911625 NT5C1B 5'-nucleotidase, cytosolic IB gene DOID:630 genetic disease ISO RGD:1354038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11911654 PFKP phosphofructokinase, platelet gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:731015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 11911654 PFKP phosphofructokinase, platelet gene DOID:5419 schizophrenia ISO RGD:731015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11911654 PFKP phosphofructokinase, platelet gene DOID:630 genetic disease ISO RGD:731015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11911654 PFKP phosphofructokinase, platelet gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731015 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11911685 OSGIN1 oxidative stress induced growth inhibitor 1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1607033 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 11911685 OSGIN1 oxidative stress induced growth inhibitor 1 gene DOID:630 genetic disease ISO RGD:1607033 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11911685 OSGIN1 oxidative stress induced growth inhibitor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1607033 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11911685 OSGIN1 oxidative stress induced growth inhibitor 1 gene DOID:9005126 Malonic Aciduria ISO RGD:1607033 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Deficiency of malonyl-CoA decarboxylase PMID:12955715|PMID:17186413|PMID:28492532 11911685 OSGIN1 oxidative stress induced growth inhibitor 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1607033 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11911700 TREX1 three prime repair exonuclease 1 gene DOID:0050169 cutaneous lupus erythematosus ISO RGD:1320018 D RGD:9068941 20220825 MouseDO 11911700 TREX1 three prime repair exonuclease 1 gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1323748 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME PMID:16845398|PMID:17846997|PMID:20131292|PMID:23602593|PMID:24033266|PMID:24183309|PMID:24300241|PMID:25582466|PMID:25604658|PMID:25741868|PMID:26467025|PMID:26938784|PMID:28492532|PMID:28750028 11911700 TREX1 three prime repair exonuclease 1 gene DOID:0060386 Chilblain lupus ISO RGD:1323748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chilblain lupus PMID:16960810|PMID:17357087|PMID:17440703|PMID:18805785|PMID:20799324|PMID:20871604|PMID:21808053|PMID:22829693|PMID:23989343|PMID:25848017|PMID:28492532 11911700 TREX1 three prime repair exonuclease 1 gene DOID:0111567 retinal vasculopathy with cerebral leukodystrophy ISO RGD:1323748 D RGD:7240710 20180130 OMIM 11911700 TREX1 three prime repair exonuclease 1 gene DOID:0111567 retinal vasculopathy with cerebral leukodystrophy ISO RGD:1323748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | ClinVar Annotator: match by term: Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena PMID:16845398|PMID:17293595|PMID:17660818|PMID:17660820|PMID:17846997|PMID:1821204|PMID:18583934|PMID:18805785|PMID:20131292|PMID:21270825|PMID:21937424|PMID:23602593|PMID:23881107|PMID:23979357|PMID:24033266|PMID:24183309|PMID:24224166|PMID:25138095|PMID:25582466|PMID:25604658|PMID:25741868|PMID:25906927|PMID:26182405|PMID:26467025|PMID:26938784|PMID:27391121|PMID:27604306|PMID:28089741|PMID:28492532|PMID:29239743|PMID:30219631|PMID:3174024|PMID:31980526|PMID:33504652|PMID:34426522|PMID:9371916 11911700 TREX1 three prime repair exonuclease 1 gene DOID:13945 CADASIL ISO RGD:1323748 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy PMID:17660818|PMID:21270825|PMID:23881107|PMID:28492532|PMID:35307828 11911700 TREX1 three prime repair exonuclease 1 gene DOID:630 genetic disease ISO RGD:1323748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16845398|PMID:17293595|PMID:17660818|PMID:17660820|PMID:17846997|PMID:18583934|PMID:18805785|PMID:20131292|PMID:21270825|PMID:21937424|PMID:23881107|PMID:23979357|PMID:24033266|PMID:24183309|PMID:24224166|PMID:25138095|PMID:25500883|PMID:25604658|PMID:25741868|PMID:25906927|PMID:26182405|PMID:26467025|PMID:27391121|PMID:28089741|PMID:28492532|PMID:29239743|PMID:30219631|PMID:31980526|PMID:33504652|PMID:33606975|PMID:34426522 11911700 TREX1 three prime repair exonuclease 1 gene DOID:8725 vascular dementia ISO RGD:1323748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:17660818|PMID:21270825|PMID:23881107|PMID:28492532|PMID:35307828 11911700 TREX1 three prime repair exonuclease 1 gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:1323748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombotic microangiopathy PMID:29941221 11911700 TREX1 three prime repair exonuclease 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1323748 D RGD:7240710 20180725 OMIM 11911700 TREX1 three prime repair exonuclease 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1323748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:16960810|PMID:17293595|PMID:17357087|PMID:17440703|PMID:17660818|PMID:17660820|PMID:17846997|PMID:1821204|PMID:18583934|PMID:18805785|PMID:19344873|PMID:19875384|PMID:20131292|PMID:20799324|PMID:20871604|PMID:21270825|PMID:21808053|PMID:21937424|PMID:22367235|PMID:22829693|PMID:23602593|PMID:23881107|PMID:23918923|PMID:23979357|PMID:23989343|PMID:24033266|PMID:24088041|PMID:24183309|PMID:24224166|PMID:24300241|PMID:25138095|PMID:25500883|PMID:25582466|PMID:25604658|PMID:25741868|PMID:25848017|PMID:25906927|PMID:26150267|PMID:26182405|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26691497|PMID:26938784|PMID:27391121|PMID:27604306|PMID:28089741|PMID:28492532|PMID:28750028|PMID:28919362|PMID:29239743|PMID:29387804|PMID:29453956|PMID:30219631|PMID:31130681|PMID:31589614|PMID:31719132|PMID:3174024|PMID:31980526|PMID:32860008|PMID:33504652|PMID:33606975|PMID:33892200|PMID:34426522|PMID:34440436|PMID:35307828 11911700 TREX1 three prime repair exonuclease 1 gene DOID:9001488 Human Influenza ISO RGD:1323748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11911700 TREX1 three prime repair exonuclease 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1323748 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11911700 TREX1 three prime repair exonuclease 1 gene DOID:9005372 Inflammation ISO RGD:1323748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16845398 11911700 TREX1 three prime repair exonuclease 1 gene DOID:9005881 Chilblain Lupus 1 ISO RGD:1323748 D RGD:7240710 20180130 OMIM 11911700 TREX1 three prime repair exonuclease 1 gene DOID:9005881 Chilblain Lupus 1 ISO RGD:1323748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chilblain lupus 1 PMID:16845398|PMID:23602593|PMID:24183309|PMID:25582466|PMID:25604658|PMID:25741868|PMID:26938784|PMID:28492532 11911700 TREX1 three prime repair exonuclease 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1323748 D RGD:7240710 20180130 OMIM 11911700 TREX1 three prime repair exonuclease 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1323748 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to PMID:16845398|PMID:17293595|PMID:17660818|PMID:17660820|PMID:17846997|PMID:18583934|PMID:18805785|PMID:20131292|PMID:21270825|PMID:21937424|PMID:23881107|PMID:24033266|PMID:24224166|PMID:24300241|PMID:25138095|PMID:25582466|PMID:25604658|PMID:25741868|PMID:25906927|PMID:26182405|PMID:26467025|PMID:27391121|PMID:28089741|PMID:28492532|PMID:28750028|PMID:29239743|PMID:30219631|PMID:31980526|PMID:33504652|PMID:34426522 11911700 TREX1 three prime repair exonuclease 1 gene DOID:936 brain disease ISO RGD:1323748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16845398 11911708 CSPP1 centrosome and spindle pole associated protein 1 gene DOID:0050778 Meckel syndrome ISO RGD:1605630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:24360803|PMID:25558065|PMID:25741868 11911708 CSPP1 centrosome and spindle pole associated protein 1 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1605630 D RGD:7240710 20180130 OMIM 11911708 CSPP1 centrosome and spindle pole associated protein 1 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1605630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 21 PMID:16199547|PMID:17576681|PMID:20301500|PMID:24033266|PMID:24360803|PMID:24360807|PMID:24360808|PMID:25558065|PMID:25640679|PMID:25741868|PMID:26092869|PMID:27434533|PMID:27894351|PMID:28125082|PMID:28492532|PMID:29706646|PMID:9536098 11911708 CSPP1 centrosome and spindle pole associated protein 1 gene DOID:10907 microcephaly ISO RGD:1605630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11911708 CSPP1 centrosome and spindle pole associated protein 1 gene DOID:630 genetic disease ISO RGD:1605630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11911708 CSPP1 centrosome and spindle pole associated protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1605630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 11911773 SLC49A3 solute carrier family 49 member 3 gene DOID:0110375 retinitis pigmentosa 40 ISO RGD:1604571 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 40 11911773 SLC49A3 solute carrier family 49 member 3 gene DOID:1856 cherubism ISO RGD:1604571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11911773 SLC49A3 solute carrier family 49 member 3 gene DOID:630 genetic disease ISO RGD:1604571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11911773 SLC49A3 solute carrier family 49 member 3 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1604571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 11911798 R3HDM2 R3H domain containing 2 gene DOID:630 genetic disease ISO RGD:1605089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11911798 R3HDM2 R3H domain containing 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1605089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11911798 R3HDM2 R3H domain containing 2 gene DOID:6846 familial melanoma ISO RGD:1605089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 11911798 R3HDM2 R3H domain containing 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11911846 ANGPT4 angiopoietin 4 gene DOID:630 genetic disease ISO RGD:1316792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11911864 TPPP tubulin polymerization promoting protein gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1605400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 11911864 TPPP tubulin polymerization promoting protein gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1605400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 11911864 TPPP tubulin polymerization promoting protein gene DOID:0080600 COVID-19 ISO RGD:1605400 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11911864 TPPP tubulin polymerization promoting protein gene DOID:630 genetic disease ISO RGD:1605400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11911864 TPPP tubulin polymerization promoting protein gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1605400 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 11911874 USHBP1 USH1 protein network component harmonin binding protein 1 gene DOID:630 genetic disease ISO RGD:1322004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11911894 IDUA alpha-L-iduronidase gene DOID:0060222 Scheie syndrome ISO RGD:1322129 D RGD:7240710 20180207 OMIM 11911894 IDUA alpha-L-iduronidase gene DOID:0060222 Scheie syndrome ISO RGD:1322129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE V | ClinVar Annotator: match by term: Scheie Syndrome PMID:10215409|PMID:10607946|PMID:10738517|PMID:10911525|PMID:11159948|PMID:11735025|PMID:11903343|PMID:12203999|PMID:12509712|PMID:12559846|PMID:1301196|PMID:1301941|PMID:14559116|PMID:1505961|PMID:15300847|PMID:1550122|PMID:15862278|PMID:16435195|PMID:16438163|PMID:18796143|PMID:19396826|PMID:19748810|PMID:19751987|PMID:19839758|PMID:20301341|PMID:21394825|PMID:21462124|PMID:21480867|PMID:21521498|PMID:21639919|PMID:2170400|PMID:21831683|PMID:22074387|PMID:22306676|PMID:22976768|PMID:23786846|PMID:23837464|PMID:24033266|PMID:24036510|PMID:24053568|PMID:24102521|PMID:24314423|PMID:24368159|PMID:24480078|PMID:24698225|PMID:24798265|PMID:24875751|PMID:2522450|PMID:25741868|PMID:26825088|PMID:27146977|PMID:27196898|PMID:27511503|PMID:27896125|PMID:28492532|PMID:28676128|PMID:28752568|PMID:29393969|PMID:29654546|PMID:30809705|PMID:31194252|PMID:31319225|PMID:32188113|PMID:33073008|PMID:33517895|PMID:4112371|PMID:4221470|PMID:7550232|PMID:7550242|PMID:7951228|PMID:8019563|PMID:8213840|PMID:8318992|PMID:8401515|PMID:8664897|PMID:8680403|PMID:9427149|PMID:9748610|PMID:9787109 11911894 IDUA alpha-L-iduronidase gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:1322129 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis PMID:25741868|PMID:27125215|PMID:27210743|PMID:27238910|PMID:27939258|PMID:28492532|PMID:32432561 11911894 IDUA alpha-L-iduronidase gene DOID:0111389 mucopolysaccharidosis Ih/s ISO RGD:1322129 D RGD:7240710 20191030 OMIM 11911894 IDUA alpha-L-iduronidase gene DOID:0111389 mucopolysaccharidosis Ih/s ISO RGD:1322129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/S | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-I-H/S PMID:10215409|PMID:10466419|PMID:10735634|PMID:10738517|PMID:10911525|PMID:11159948|PMID:11735025|PMID:12189649|PMID:12203999|PMID:12509712|PMID:12559846|PMID:1301196|PMID:1301941|PMID:14559116|PMID:1505961|PMID:15300847|PMID:15521993|PMID:15862278|PMID:16199547|PMID:16435195|PMID:16435211|PMID:16438163|PMID:17570076|PMID:17576681|PMID:18796143|PMID:19396826|PMID:19748810|PMID:19751987|PMID:19839758|PMID:20301341|PMID:21394825|PMID:21462124|PMID:21480867|PMID:21521498|PMID:21624210|PMID:21639919|PMID:21734815|PMID:21831683|PMID:22074387|PMID:22306676|PMID:22976768|PMID:23084433|PMID:23786846|PMID:23837464|PMID:24033266|PMID:24036510|PMID:24053568|PMID:24102521|PMID:24314423|PMID:24368159|PMID:24480078|PMID:24698225|PMID:24798265|PMID:24875751|PMID:25741868|PMID:26260077|PMID:26825088|PMID:27146977|PMID:27196898|PMID:27511503|PMID:27520059|PMID:27896125|PMID:28492532|PMID:28676128|PMID:28752568|PMID:29282708|PMID:29393969|PMID:29654546|PMID:29801497|PMID:30093709|PMID:30442156|PMID:30809705|PMID:31194252|PMID:32188113|PMID:32432561|PMID:33073008|PMID:33098355|PMID:33301762|PMID:33517895|PMID:4221470|PMID:7550232|PMID:7550242|PMID:7951228|PMID:8019563|PMID:8213840|PMID:8328452|PMID:8401515|PMID:8664897|PMID:8680403|PMID:9391892|PMID:9427149|PMID:9536098|PMID:9748610|PMID:9787109 11911894 IDUA alpha-L-iduronidase gene DOID:0111390 mucopolysaccharidosis Ih ISO RGD:1322129 D RGD:7240710 20191030 OMIM 11911894 IDUA alpha-L-iduronidase gene DOID:0111390 mucopolysaccharidosis Ih ISO RGD:1322129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome | ClinVar Annotator: match by term: Hurler syndrome | ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH PMID:10215409|PMID:10466419|PMID:10607946|PMID:10735634|PMID:10738517|PMID:10911525|PMID:11159948|PMID:11735025|PMID:11903343|PMID:12189649|PMID:12203999|PMID:12509712|PMID:12559846|PMID:12796790|PMID:1301196|PMID:1301941|PMID:14516901|PMID:14559116|PMID:1505961|PMID:15081804|PMID:15300847|PMID:1550122|PMID:15521993|PMID:15862278|PMID:16188808|PMID:16199547|PMID:16435195|PMID:16435211|PMID:16438163|PMID:17570076|PMID:17576681|PMID:17606547|PMID:18463126|PMID:18792977|PMID:18796143|PMID:19396826|PMID:19748810|PMID:19751987|PMID:19839758|PMID:20217237|PMID:20301341|PMID:21253827|PMID:21393040|PMID:21394825|PMID:21462124|PMID:21480867|PMID:21521498|PMID:21624210|PMID:21639919|PMID:2170400|PMID:21734815|PMID:21831683|PMID:21963080|PMID:22074387|PMID:22306676|PMID:22976768|PMID:23084433|PMID:23210910|PMID:23430557|PMID:23430803|PMID:23465405|PMID:23786846|PMID:23837464|PMID:24033266|PMID:24036510|PMID:24053568|PMID:24102521|PMID:24314423|PMID:24368159|PMID:24480078|PMID:24698225|PMID:24767253|PMID:24798265|PMID:24875751|PMID:25009127|PMID:25098213|PMID:2522450|PMID:25256405|PMID:25525159|PMID:25557439|PMID:25558755|PMID:25614311|PMID:25741868|PMID:26825088|PMID:27146977|PMID:27196898|PMID:27238910|PMID:27392569|PMID:27511503|PMID:27520059|PMID:27843123|PMID:27896125|PMID:27939258|PMID:28302345|PMID:28492532|PMID:28676128|PMID:28721335|PMID:28725570|PMID:28728811|PMID:28752568|PMID:29143201|PMID:29282708|PMID:29393969|PMID:29620724|PMID:29654546|PMID:29801497|PMID:29843745|PMID:29906569|PMID:29976218|PMID:30083803|PMID:30442156|PMID:30809705|PMID:30903511|PMID:31133280|PMID:31194252|PMID:31236806|PMID:31298590|PMID:31678774|PMID:32188113|PMID:32432561|PMID:33073008|PMID:33301762|PMID:33517895|PMID:33686258|PMID:4112371|PMID:4221470|PMID:6821579|PMID:7550232|PMID:7550242|PMID:7951228|PMID:8019563|PMID:8019572|PMID:8213840|PMID:8318992|PMID:8328452|PMID:8401515|PMID:8477267|PMID:8554071|PMID:8664897|PMID:8680403|PMID:9391892|PMID:9427149|PMID:9536098|PMID:9748610|PMID:9787109 11911894 IDUA alpha-L-iduronidase gene DOID:10754 otitis media ISO RGD:1322130 D RGD:9068941 20220825 MouseDO OMIM:166760 11911894 IDUA alpha-L-iduronidase gene DOID:10808 gastric ulcer ISO RGD:1310943 D RGD:9068941 20200609 RGD PMID:3713687|REF_RGD_ID:12910841 11911894 IDUA alpha-L-iduronidase gene DOID:12798 mucopolysaccharidosis ISO RGD:1322129 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IDUA pseudodeficiency PMID:25741868|PMID:28492532|PMID:8554071 11911894 IDUA alpha-L-iduronidase gene DOID:12802 mucopolysaccharidosis I ISO RGD:1322129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alpha-L-Iduronidase deficiency | ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 PMID:10215409|PMID:10466419|PMID:10607946|PMID:10735634|PMID:10738517|PMID:10911525|PMID:11159948|PMID:11555618|PMID:11735025|PMID:11903343|PMID:12189649|PMID:12203999|PMID:12509712|PMID:12559846|PMID:12796790|PMID:1301196|PMID:1301941|PMID:14516901|PMID:14559116|PMID:1505961|PMID:15081804|PMID:15300847|PMID:1550122|PMID:15521993|PMID:15862278|PMID:16188808|PMID:16199547|PMID:1627351|PMID:16435195|PMID:16435211|PMID:16438163|PMID:17407067|PMID:17570076|PMID:17576681|PMID:17606547|PMID:18463126|PMID:18792977|PMID:18796143|PMID:19396826|PMID:19748810|PMID:19751987|PMID:19839758|PMID:20026495|PMID:20217237|PMID:20301341|PMID:21176924|PMID:21253827|PMID:21364962|PMID:21393040|PMID:21394825|PMID:21462124|PMID:21480867|PMID:21521498|PMID:21624210|PMID:21639919|PMID:2170400|PMID:21734815|PMID:21831683|PMID:21963080|PMID:22074387|PMID:22306676|PMID:22976768|PMID:23084433|PMID:23430557|PMID:23430803|PMID:23465405|PMID:23757202|PMID:23786846|PMID:23837464|PMID:23959878|PMID:24033266|PMID:24036510|PMID:24053568|PMID:24102521|PMID:24314423|PMID:24368159|PMID:24480078|PMID:24698225|PMID:24767253|PMID:24781210|PMID:24798265|PMID:24875751|PMID:25009127|PMID:25098213|PMID:25102484|PMID:2522450|PMID:25256405|PMID:25525159|PMID:25557439|PMID:25558755|PMID:25614311|PMID:25741868|PMID:26260077|PMID:26825088|PMID:27146977|PMID:27196898|PMID:27238910|PMID:27392569|PMID:27511503|PMID:27520059|PMID:27766162|PMID:27843123|PMID:27896125|PMID:27939258|PMID:28302345|PMID:28492532|PMID:28676128|PMID:28721335|PMID:28725570|PMID:28728811|PMID:28752568|PMID:29140481|PMID:29143201|PMID:29282708|PMID:29393969|PMID:29620724|PMID:29654546|PMID:29705972|PMID:29801497|PMID:29843745|PMID:29906569|PMID:29947050|PMID:29976218|PMID:30083803|PMID:30093709|PMID:30442156|PMID:30755342|PMID:30809705|PMID:30903511|PMID:31133280|PMID:31194252|PMID:31236806|PMID:31298590|PMID:31319022|PMID:31341245|PMID:31386236|PMID:31400021|PMID:31678774|PMID:31758674|PMID:32188113|PMID:32432561|PMID:32670797|PMID:33073008|PMID:33098355|PMID:33198351|PMID:33301762|PMID:33517895|PMID:33686258|PMID:34148116|PMID:4112371|PMID:4221470|PMID:6821579|PMID:7550232|PMID:7550242|PMID:7951228|PMID:8019563|PMID:8019572|PMID:8213840|PMID:8318992|PMID:8328452|PMID:8401515|PMID:8477267|PMID:8554071|PMID:8664897|PMID:8680403|PMID:9391892|PMID:9427149|PMID:9536098|PMID:9748610|PMID:9787109 11911894 IDUA alpha-L-iduronidase gene DOID:12802 mucopolysaccharidosis I treatment ISO RGD:1322129 D RGD:9068941 20200609 RGD PMID:12948739|PMID:15126990|PMID:15128896|PMID:15194053|PMID:17407189|PMID:18523448|PMID:24100243|PMID:25597593|REF_RGD_ID:12910497|REF_RGD_ID:12910499|REF_RGD_ID:12910502|REF_RGD_ID:12910503|REF_RGD_ID:12910510|REF_RGD_ID:12910716|REF_RGD_ID:12910719|REF_RGD_ID:12910720 11911894 IDUA alpha-L-iduronidase gene DOID:12802 mucopolysaccharidosis I treatment ISO RGD:1322130 D RGD:9068941 20200609 RGD PMID:21667973|REF_RGD_ID:12910508 11911894 IDUA alpha-L-iduronidase gene DOID:1856 cherubism ISO RGD:1322129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11911894 IDUA alpha-L-iduronidase gene DOID:2978 carbohydrate metabolic disorder ISO RGD:1322129 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormality of mucopolysaccharide metabolism PMID:11735025|PMID:21176924|PMID:21480867|PMID:25741868|PMID:28492532|PMID:30755342|PMID:7550242 11911894 IDUA alpha-L-iduronidase gene DOID:3082 interstitial lung disease ISO RGD:1322129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial pneumonitis PMID:10215409|PMID:11159948|PMID:11735025|PMID:1301941|PMID:1505961|PMID:18796143|PMID:19396826|PMID:21394825|PMID:21480867|PMID:21831683|PMID:22976768|PMID:23786846|PMID:24033266|PMID:24314423|PMID:24368159|PMID:25741868|PMID:28492532|PMID:28752568|PMID:29393969|PMID:7951228|PMID:8401515|PMID:9427149|PMID:9787109 11911894 IDUA alpha-L-iduronidase gene DOID:585 nephrolithiasis ISO RGD:1322129 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis | ClinVar Annotator: match by term: Calcium oxalate urolithiasis PMID:25741868|PMID:27125215|PMID:27210743|PMID:27238910|PMID:27939258|PMID:28492532|PMID:32432561 11911894 IDUA alpha-L-iduronidase gene DOID:630 genetic disease ISO RGD:1322129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:10738517|PMID:10911525|PMID:11735025|PMID:12559846|PMID:1301196|PMID:1301941|PMID:16435195|PMID:19748810|PMID:21394825|PMID:21480867|PMID:21521498|PMID:21639919|PMID:22074387|PMID:23465405|PMID:23786846|PMID:24036510|PMID:24102521|PMID:24368159|PMID:24480078|PMID:24798265|PMID:25741868|PMID:27146977|PMID:27196898|PMID:28492532|PMID:28676128|PMID:28752568|PMID:30903511|PMID:33686258|PMID:7951228 11911894 IDUA alpha-L-iduronidase gene DOID:630 genetic disease ISO RGD:1322129 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:10738517|PMID:10911525|PMID:11735025|PMID:12559846|PMID:1301196|PMID:1301941|PMID:15300847|PMID:16435195|PMID:19748810|PMID:21394825|PMID:21521498|PMID:21639919|PMID:22074387|PMID:23465405|PMID:23786846|PMID:24036510|PMID:24102521|PMID:24368159|PMID:24480078|PMID:24798265|PMID:25741868|PMID:27146977|PMID:27196898|PMID:27843123|PMID:27939258|PMID:28492532|PMID:28676128|PMID:28721335|PMID:28725570|PMID:28728811|PMID:28752568|PMID:30903511|PMID:33686258|PMID:7951228 11911894 IDUA alpha-L-iduronidase gene DOID:630 genetic disease ISO RGD:1322129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10215409|PMID:10738517|PMID:10911525|PMID:11735025|PMID:12509712|PMID:12559846|PMID:1301196|PMID:1301941|PMID:15300847|PMID:16435195|PMID:16438163|PMID:19748810|PMID:19751987|PMID:20301341|PMID:21394825|PMID:21480867|PMID:21521498|PMID:21639919|PMID:22074387|PMID:22976768|PMID:23465405|PMID:23786846|PMID:24033266|PMID:24036510|PMID:24102521|PMID:24368159|PMID:24480078|PMID:24698225|PMID:24798265|PMID:25741868|PMID:26825088|PMID:27146977|PMID:27196898|PMID:27511503|PMID:27843123|PMID:27939258|PMID:28492532|PMID:28676128|PMID:28721335|PMID:28725570|PMID:28728811|PMID:28752568|PMID:29393969|PMID:29654546|PMID:30809705|PMID:30903511|PMID:31194252|PMID:33073008|PMID:33517895|PMID:33686258|PMID:4221470|PMID:7951228|PMID:8680403 11911894 IDUA alpha-L-iduronidase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1310943 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:6875476|REF_RGD_ID:12910840 11911894 IDUA alpha-L-iduronidase gene DOID:9001793 Generalized Epilepsy ISO RGD:1322129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 11911894 IDUA alpha-L-iduronidase gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1322129 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 11911912 MYH2 myosin heavy chain 2 gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:1347033 D RGD:7240710 20180221 OMIM 11911912 MYH2 myosin heavy chain 2 gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:1347033 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:11114175|PMID:11889243|PMID:15548556|PMID:15741996|PMID:16130113|PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:20418530|PMID:22349865|PMID:22406018|PMID:23388406|PMID:23489661|PMID:24033266|PMID:24193343|PMID:25617006|PMID:25640679|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29934118|PMID:31127727|PMID:31321302|PMID:31407473|PMID:32578970|PMID:33250842|PMID:9536098 11911912 MYH2 myosin heavy chain 2 gene DOID:3429 inclusion body myositis ISO RGD:1347033 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy 3 PMID:16199547|PMID:20418530|PMID:23388406|PMID:24033266|PMID:24193343|PMID:25741868|PMID:28492532 11911912 MYH2 myosin heavy chain 2 gene DOID:423 myopathy ISO RGD:1347033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy 11911912 MYH2 myosin heavy chain 2 gene DOID:630 genetic disease ISO RGD:1347033 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11911912 MYH2 myosin heavy chain 2 gene DOID:9884 muscular dystrophy ISO RGD:1347033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:25741868 11911956 FDX1 ferredoxin 1 gene DOID:1059 intellectual disability ISO RGD:1347130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11911956 FDX1 ferredoxin 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1347130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11911956 FDX1 ferredoxin 1 gene DOID:4989 pancreatitis ISO RGD:62036 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreatic acinar cell (rat) PMID:12709512|REF_RGD_ID:4145666 11911956 FDX1 ferredoxin 1 gene DOID:630 genetic disease ISO RGD:1347130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11911956 FDX1 ferredoxin 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1347130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11911968 FAT2 FAT atypical cadherin 2 gene DOID:0050952 spastic ataxia ISO RGD:732170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 11911968 FAT2 FAT atypical cadherin 2 gene DOID:0080287 spinocerebellar ataxia 45 ISO RGD:732170 D RGD:7240710 20190315 OMIM 11911968 FAT2 FAT atypical cadherin 2 gene DOID:0080287 spinocerebellar ataxia 45 ISO RGD:732170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 45 PMID:20301317|PMID:25741868|PMID:28492532|PMID:29053796|PMID:29847346 11911968 FAT2 FAT atypical cadherin 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732170 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11911968 FAT2 FAT atypical cadherin 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 11911968 FAT2 FAT atypical cadherin 2 gene DOID:630 genetic disease ISO RGD:732170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11911968 FAT2 FAT atypical cadherin 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732170 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11911997 FPGS folylpolyglutamate synthase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346571 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11911997 FPGS folylpolyglutamate synthase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1346571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17119116 11911997 FPGS folylpolyglutamate synthase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1346571 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11911997 FPGS folylpolyglutamate synthase gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1346571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11911997 FPGS folylpolyglutamate synthase gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1346571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 11911997 FPGS folylpolyglutamate synthase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346571 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11911997 FPGS folylpolyglutamate synthase gene DOID:630 genetic disease ISO RGD:1346571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11911997 FPGS folylpolyglutamate synthase gene DOID:7148 rheumatoid arthritis ISO RGD:1346571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 11911997 FPGS folylpolyglutamate synthase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1346571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 11911997 FPGS folylpolyglutamate synthase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1346571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25013492 11912019 HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:0060224 atrial fibrillation ISO RGD:1314942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 11912019 HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1314942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11912019 HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:1059 intellectual disability ISO RGD:1314942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11912019 HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 11912019 HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:2717 Bloom syndrome ISO RGD:1314942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11912019 HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1314942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 11912019 HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:630 genetic disease ISO RGD:1314942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26138117|PMID:26153217|PMID:26801221|PMID:27108999|PMID:28492532|PMID:33526774 11912019 HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:9000271 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation ISO RGD:1314942 D RGD:7240710 20190315 OMIM 11912019 HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:9000271 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation ISO RGD:1314942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation PMID:25741868|PMID:26138117|PMID:26153217|PMID:27108999|PMID:28492532|PMID:32921582|PMID:33526774 11912019 HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11912019 HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:9004447 Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability ISO RGD:1314942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability PMID:26153217|PMID:27108999 11912019 HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:9256 colorectal cancer ISO RGD:1314942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11912099 TRIP10 thyroid hormone receptor interactor 10 gene DOID:0080490 mucolipidosis type IV ISO RGD:732056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11912099 TRIP10 thyroid hormone receptor interactor 10 gene DOID:12858 Huntington's disease ISO RGD:732056 D RGD:9068941 20200609 RGD protein:increased expression:striatum PMID:12604778|REF_RGD_ID:11535137 11912099 TRIP10 thyroid hormone receptor interactor 10 gene DOID:630 genetic disease ISO RGD:732056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912099 TRIP10 thyroid hormone receptor interactor 10 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:621145 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:26097534|REF_RGD_ID:11535148 11912182 UCK1 uridine-cytidine kinase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1318012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11912182 UCK1 uridine-cytidine kinase 1 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1318012 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy 11912182 UCK1 uridine-cytidine kinase 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1318012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11912182 UCK1 uridine-cytidine kinase 1 gene DOID:573 nerve compression syndrome ISO RGD:1308313 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord ventral horn (rat) PMID:10581173|REF_RGD_ID:634248 11912182 UCK1 uridine-cytidine kinase 1 gene DOID:630 genetic disease ISO RGD:1318012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912201 WWC3 WWC family member 3 gene DOID:10283 prostate cancer ISO RGD:1601752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11912201 WWC3 WWC family member 3 gene DOID:12849 autistic disorder ISO RGD:1601752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11912201 WWC3 WWC family member 3 gene DOID:630 genetic disease ISO RGD:1601752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912201 WWC3 WWC family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11912227 DEPP1 DEPP autophagy regulator 1 gene DOID:0080600 COVID-19 ISO RGD:1352536 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11912227 DEPP1 DEPP autophagy regulator 1 gene DOID:289 endometriosis ISO RGD:1352536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11912227 DEPP1 DEPP autophagy regulator 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1352536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 11912227 DEPP1 DEPP autophagy regulator 1 gene DOID:9455 lipid storage disease ISO RGD:1352536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414|PMID:17175557 11912234 ALG3 ALG3 alpha-1,3- mannosyltransferase gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1314369 D RGD:7240710 20180130 OMIM 11912234 ALG3 ALG3 alpha-1,3- mannosyltransferase gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1314369 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CDGS, TYPE IV | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:10581255|PMID:11181649|PMID:15108280|PMID:15359379|PMID:15840742|PMID:16006436|PMID:17551933|PMID:22642865|PMID:23806237|PMID:25741868|PMID:27172925|PMID:28492532|PMID:29667327|PMID:30167849|PMID:31067009|PMID:33583022|PMID:34090370|PMID:8552211 11912234 ALG3 ALG3 alpha-1,3- mannosyltransferase gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1314369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11912234 ALG3 ALG3 alpha-1,3- mannosyltransferase gene DOID:0111546 Currarino syndrome ISO RGD:1314369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11912234 ALG3 ALG3 alpha-1,3- mannosyltransferase gene DOID:1059 intellectual disability ISO RGD:1314369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:28492532|PMID:30167849 11912234 ALG3 ALG3 alpha-1,3- mannosyltransferase gene DOID:1826 epilepsy ISO RGD:1314369 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11912234 ALG3 ALG3 alpha-1,3- mannosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1314369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:28492532 11912234 ALG3 ALG3 alpha-1,3- mannosyltransferase gene DOID:630 genetic disease ISO RGD:1314369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33583022 11912255 MAGI3 membrane associated guanylate kinase, WW and PDZ domain containing 3 gene DOID:0080690 RASopathy ISO RGD:1605836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11912255 MAGI3 membrane associated guanylate kinase, WW and PDZ domain containing 3 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1605836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 11912255 MAGI3 membrane associated guanylate kinase, WW and PDZ domain containing 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1605836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 11912255 MAGI3 membrane associated guanylate kinase, WW and PDZ domain containing 3 gene DOID:630 genetic disease ISO RGD:1605836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912268 RNF148 ring finger protein 148 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11912268 RNF148 ring finger protein 148 gene DOID:630 genetic disease ISO RGD:1348165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912273 LOC100983779 olfactory receptor 52B6 gene DOID:630 genetic disease ISO RGD:1351225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912276 EIF3H eukaryotic translation initiation factor 3 subunit H gene DOID:0080508 Cornelia de Lange syndrome 4 ISO RGD:1351668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 4 PMID:28492532 11912276 EIF3H eukaryotic translation initiation factor 3 subunit H gene DOID:10283 prostate cancer ISO RGD:1351668 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:10362802|REF_RGD_ID:2289902 11912276 EIF3H eukaryotic translation initiation factor 3 subunit H gene DOID:10283 prostate cancer disease_progression ISO RGD:1351668 D RGD:9068941 20200609 RGD DNA:amplification PMID:11733359|REF_RGD_ID:2289901 11912276 EIF3H eukaryotic translation initiation factor 3 subunit H gene DOID:10286 prostate carcinoma ISO RGD:1351668 D RGD:9068941 20200609 RGD DNA:amplification PMID:14997205|REF_RGD_ID:2289900 11912276 EIF3H eukaryotic translation initiation factor 3 subunit H gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1351668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11912276 EIF3H eukaryotic translation initiation factor 3 subunit H gene DOID:1612 breast cancer ISO RGD:1351668 D RGD:9068941 20200609 RGD DNA:amplification PMID:10362802|REF_RGD_ID:2289902 11912276 EIF3H eukaryotic translation initiation factor 3 subunit H gene DOID:206 hereditary multiple exostoses ISO RGD:1351668 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 11912276 EIF3H eukaryotic translation initiation factor 3 subunit H gene DOID:630 genetic disease ISO RGD:1351668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912276 EIF3H eukaryotic translation initiation factor 3 subunit H gene DOID:684 hepatocellular carcinoma ISO RGD:1351668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14578863 11912276 EIF3H eukaryotic translation initiation factor 3 subunit H gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14997205 11912276 EIF3H eukaryotic translation initiation factor 3 subunit H gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18372905 11912298 USP51 ubiquitin specific peptidase 51 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11912298 USP51 ubiquitin specific peptidase 51 gene DOID:12849 autistic disorder ISO RGD:1603172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11912298 USP51 ubiquitin specific peptidase 51 gene DOID:630 genetic disease ISO RGD:1603172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912298 USP51 ubiquitin specific peptidase 51 gene DOID:9007661 Dwarfism ISO RGD:1603172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11912299 TMEM147 transmembrane protein 147 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1607077 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11912299 TMEM147 transmembrane protein 147 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1607077 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11912299 TMEM147 transmembrane protein 147 gene DOID:1059 intellectual disability ISO RGD:1607077 D RGD:8554872 20221122 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:36044892 11912299 TMEM147 transmembrane protein 147 gene DOID:543 dystonia ISO RGD:1607077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11912299 TMEM147 transmembrane protein 147 gene DOID:630 genetic disease ISO RGD:1607077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912299 TMEM147 transmembrane protein 147 gene DOID:9007224 Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly ISO RGD:1607077 D RGD:7240710 20221102 OMIM 11912299 TMEM147 transmembrane protein 147 gene DOID:9007224 Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly ISO RGD:1607077 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly PMID:25741868|PMID:36044892 11912311 TNIP1 TNFAIP3 interacting protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1319697 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11912311 TNIP1 TNFAIP3 interacting protein 1 gene DOID:12894 Sjogren's syndrome ISO RGD:1319697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 11912311 TNIP1 TNFAIP3 interacting protein 1 gene DOID:2841 asthma ISO RGD:1319697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24453940 11912311 TNIP1 TNFAIP3 interacting protein 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1319697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 11912311 TNIP1 TNFAIP3 interacting protein 1 gene DOID:418 systemic scleroderma ISO RGD:1319697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21750679 11912311 TNIP1 TNFAIP3 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1319697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912311 TNIP1 TNFAIP3 interacting protein 1 gene DOID:8893 psoriasis ISO RGD:1319697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19169254|PMID:20953190 11912311 TNIP1 TNFAIP3 interacting protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319697 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11912311 TNIP1 TNFAIP3 interacting protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1319697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 11912311 TNIP1 TNFAIP3 interacting protein 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1319697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838193|PMID:19838195 11912348 RPRML reprimo like gene DOID:630 genetic disease ISO RGD:1604446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912353 BTNL3 butyrophilin like 3 gene DOID:630 genetic disease ISO RGD:1350246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912365 PRSS46P serine protease 46 gene DOID:9008939 Breast Neoplasms ISO RGD:1552176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 11912375 POLA1 DNA polymerase alpha 1, catalytic subunit gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11912375 POLA1 DNA polymerase alpha 1, catalytic subunit gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:732365 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:19439424|PMID:19738637|PMID:24643514|PMID:26337422|PMID:28492532 11912375 POLA1 DNA polymerase alpha 1, catalytic subunit gene DOID:0111834 X-linked reticulate pigmentary disorder ISO RGD:732365 D RGD:7240710 20190315 OMIM 11912375 POLA1 DNA polymerase alpha 1, catalytic subunit gene DOID:0111834 X-linked reticulate pigmentary disorder ISO RGD:732365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked reticulate pigmentary disorder PMID:25741868|PMID:27019227|PMID:28492532 11912375 POLA1 DNA polymerase alpha 1, catalytic subunit gene DOID:0111840 Van Esch-O'Driscoll syndrome ISO RGD:732365 D RGD:7240710 20190821 OMIM 11912375 POLA1 DNA polymerase alpha 1, catalytic subunit gene DOID:0111840 Van Esch-O'Driscoll syndrome ISO RGD:732365 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, van Esch type PMID:17576681|PMID:25741868|PMID:27019227|PMID:28492532|PMID:31006512|PMID:9536098 11912375 POLA1 DNA polymerase alpha 1, catalytic subunit gene DOID:12849 autistic disorder ISO RGD:732365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11912375 POLA1 DNA polymerase alpha 1, catalytic subunit gene DOID:630 genetic disease ISO RGD:732365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11912375 POLA1 DNA polymerase alpha 1, catalytic subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11912424 LOC100970070 mitochondrial import inner membrane translocase subunit TIM16 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1351326 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11912424 LOC100970070 mitochondrial import inner membrane translocase subunit TIM16 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1351326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 11912424 LOC100970070 mitochondrial import inner membrane translocase subunit TIM16 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1351326 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868 11912424 LOC100970070 mitochondrial import inner membrane translocase subunit TIM16 gene DOID:1682 congenital heart disease ISO RGD:1351326 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 11912424 LOC100970070 mitochondrial import inner membrane translocase subunit TIM16 gene DOID:1826 epilepsy ISO RGD:1351326 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11912424 LOC100970070 mitochondrial import inner membrane translocase subunit TIM16 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1351326 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11912424 LOC100970070 mitochondrial import inner membrane translocase subunit TIM16 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1351326 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 11912424 LOC100970070 mitochondrial import inner membrane translocase subunit TIM16 gene DOID:630 genetic disease ISO RGD:1351326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912424 LOC100970070 mitochondrial import inner membrane translocase subunit TIM16 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:1351326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia 11912460 SCG5 secretogranin V gene DOID:0050902 medulloblastoma ISO RGD:731406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17334394 11912460 SCG5 secretogranin V gene DOID:0111684 hereditary mixed polyposis syndrome ISO RGD:731406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary mixed polyposis syndrome PMID:25741868 11912460 SCG5 secretogranin V gene DOID:0111685 hereditary mixed polyposis syndrome 1 ISO RGD:731406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1 PMID:22561515 11912460 SCG5 secretogranin V gene DOID:2717 Bloom syndrome ISO RGD:731406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11912460 SCG5 secretogranin V gene DOID:3946 pituitary-dependent Cushing's disease ISO RGD:731407 D RGD:9068941 20220825 MouseDO 11912460 SCG5 secretogranin V gene DOID:630 genetic disease ISO RGD:731406 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912460 SCG5 secretogranin V gene DOID:9008443 Colorectal Neoplasms ISO RGD:731406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18084292 11912460 SCG5 secretogranin V gene DOID:9256 colorectal cancer ISO RGD:731406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532|PMID:29804199 11912460 SCG5 secretogranin V gene DOID:9256 colorectal cancer ISO RGD:731406 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:26947005|PMID:28492532|PMID:29804199 11912477 TNFRSF8 TNF receptor superfamily member 8 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:737226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11912477 TNFRSF8 TNF receptor superfamily member 8 gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10908157|PMID:17261581 11912477 TNFRSF8 TNF receptor superfamily member 8 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:737226 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11912477 TNFRSF8 TNF receptor superfamily member 8 gene DOID:0081267 graft-versus-host disease ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15322151 11912477 TNFRSF8 TNF receptor superfamily member 8 gene DOID:10283 prostate cancer ISO RGD:737226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11912477 TNFRSF8 TNF receptor superfamily member 8 gene DOID:12361 Graves' disease ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 11912477 TNFRSF8 TNF receptor superfamily member 8 gene DOID:12930 dilated cardiomyopathy ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 11912477 TNFRSF8 TNF receptor superfamily member 8 gene DOID:1790 malignant mesothelioma ISO RGD:737226 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 11912477 TNFRSF8 TNF receptor superfamily member 8 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29984229 11912477 TNFRSF8 TNF receptor superfamily member 8 gene DOID:3087 gingivitis ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9379333 11912477 TNFRSF8 TNF receptor superfamily member 8 gene DOID:3308 embryonal carcinoma ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9111512 11912477 TNFRSF8 TNF receptor superfamily member 8 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8811349 11912477 TNFRSF8 TNF receptor superfamily member 8 gene DOID:630 genetic disease ISO RGD:737226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912477 TNFRSF8 TNF receptor superfamily member 8 gene DOID:820 myocarditis ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 11912477 TNFRSF8 TNF receptor superfamily member 8 gene DOID:8567 Hodgkin's lymphoma ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10908157|PMID:12358914|PMID:12453859|PMID:16879607|PMID:17261581|PMID:7621881|PMID:8701986 11912477 TNFRSF8 TNF receptor superfamily member 8 gene DOID:9000571 AIDS-Related Opportunistic Infections ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9379333 11912477 TNFRSF8 TNF receptor superfamily member 8 gene DOID:9001415 Mycobacterium Infections ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15316035 11912477 TNFRSF8 TNF receptor superfamily member 8 gene DOID:9002137 Infectious Ectromelia ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12235215 11912477 TNFRSF8 TNF receptor superfamily member 8 gene DOID:9002884 Emphysema ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29984229 11912477 TNFRSF8 TNF receptor superfamily member 8 gene DOID:9007355 Hashimoto Disease ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 11912477 TNFRSF8 TNF receptor superfamily member 8 gene DOID:9008217 Hemorrhage ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29984229 11912477 TNFRSF8 TNF receptor superfamily member 8 gene DOID:934 viral infectious disease ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769|PMID:9826579 11912477 TNFRSF8 TNF receptor superfamily member 8 gene DOID:9351 diabetes mellitus ISO RGD:737227 D RGD:9068941 20200609 RGD PMID:10192335|REF_RGD_ID:2312735 11912506 TBL1X transducin beta like 1 X-linked gene DOID:0060041 autism spectrum disorder ISO RGD:1346534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050706 11912506 TBL1X transducin beta like 1 X-linked gene DOID:0111837 congenital nongoitrous hypothyroidism 8 ISO RGD:1346534 D RGD:7240710 20191009 OMIM 11912506 TBL1X transducin beta like 1 X-linked gene DOID:0111837 congenital nongoitrous hypothyroidism 8 ISO RGD:1346534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 8 PMID:25741868|PMID:27603907|PMID:30591955 11912506 TBL1X transducin beta like 1 X-linked gene DOID:12849 autistic disorder ISO RGD:1346534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11912506 TBL1X transducin beta like 1 X-linked gene DOID:630 genetic disease ISO RGD:1346534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912506 TBL1X transducin beta like 1 X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11912538 LCP2 lymphocyte cytosolic protein 2 gene DOID:630 genetic disease ISO RGD:732713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912538 LCP2 lymphocyte cytosolic protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11912538 LCP2 lymphocyte cytosolic protein 2 gene DOID:9008093 Immunodeficiency 81 ISO RGD:732713 D RGD:7240710 20210707 OMIM 11912538 LCP2 lymphocyte cytosolic protein 2 gene DOID:9008093 Immunodeficiency 81 ISO RGD:732713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 81 PMID:25741868|PMID:33231617 11912564 A4GNT alpha-1,4-N-acetylglucosaminyltransferase gene DOID:1793 pancreatic cancer ISO RGD:1348447 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, mononuclear cell PMID:16441422|REF_RGD_ID:2325199 11912564 A4GNT alpha-1,4-N-acetylglucosaminyltransferase gene DOID:630 genetic disease ISO RGD:1348447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912572 ATP7B ATPase copper transporting beta gene DOID:0050952 spastic ataxia ISO RGD:731392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:10441329|PMID:10544227|PMID:16283883|PMID:17317524|PMID:17949296|PMID:23518715|PMID:25741868|PMID:27398169|PMID:28492532|PMID:7626145 11912572 ATP7B ATPase copper transporting beta gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:731392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11912572 ATP7B ATPase copper transporting beta gene DOID:0080567 congenital disorder of glycosylation Ip ISO RGD:731392 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1P PMID:10441329|PMID:16283883|PMID:25741868|PMID:28492532|PMID:30676690 11912572 ATP7B ATPase copper transporting beta gene DOID:0111428 essential tremor 1 ISO RGD:731392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hand tremor PMID:25741868 11912572 ATP7B ATPase copper transporting beta gene DOID:1059 intellectual disability ISO RGD:731392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11912572 ATP7B ATPase copper transporting beta gene DOID:2237 hepatitis ISO RGD:2180 D RGD:9068941 20201211 RGD PMID:3392951|PMID:3429843|REF_RGD_ID:1302497|REF_RGD_ID:25823153 11912572 ATP7B ATPase copper transporting beta gene DOID:2237 hepatitis ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14574444|PMID:15135151 11912572 ATP7B ATPase copper transporting beta gene DOID:2697 renal adenoma ISO RGD:2180 D RGD:9068941 20201218 RGD PMID:11509115|REF_RGD_ID:1302456 11912572 ATP7B ATPase copper transporting beta gene DOID:305 carcinoma ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11802810|PMID:12216079 11912572 ATP7B ATPase copper transporting beta gene DOID:3459 breast carcinoma severity ISO RGD:731392 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:breast PMID:11802810|REF_RGD_ID:2292670 11912572 ATP7B ATPase copper transporting beta gene DOID:409 liver disease ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364284 11912572 ATP7B ATPase copper transporting beta gene DOID:5082 liver cirrhosis ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25134866 11912572 ATP7B ATPase copper transporting beta gene DOID:5212 congenital disorder of glycosylation ISO RGD:731392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 11912572 ATP7B ATPase copper transporting beta gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12509969 11912572 ATP7B ATPase copper transporting beta gene DOID:630 genetic disease ISO RGD:731392 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10051024|PMID:10406672|PMID:10441329|PMID:10447265|PMID:10453196|PMID:10502776|PMID:10502777|PMID:10544227|PMID:10721669|PMID:10790207|PMID:10942420|PMID:11021476|PMID:11093740|PMID:11175281|PMID:11216666|PMID:11243728|PMID:11405812|PMID:11472373|PMID:11479773|PMID:11690702|PMID:11857545|PMID:12544487|PMID:12557139|PMID:12812649|PMID:12885331|PMID:12955875|PMID:14962673|PMID:14966923|PMID:14986826|PMID:15024742|PMID:15202786|PMID:15205462|PMID:15337266|PMID:15523622|PMID:15723329|PMID:15845031|PMID:15952988|PMID:15967699|PMID:15994426|PMID:16088907|PMID:16133174|PMID:16175588|PMID:16199547|PMID:16207219|PMID:16233999|PMID:16283883|PMID:16472602|PMID:16545904|PMID:16603785|PMID:16649058|PMID:16696937|PMID:16791614|PMID:16922724|PMID:16939419|PMID:16998622|PMID:17154398|PMID:17160357|PMID:17264425|PMID:17272994|PMID:17300695|PMID:17317524|PMID:17433323|PMID:17576681|PMID:17587212|PMID:17634212|PMID:17680703|PMID:17717039|PMID:17823867|PMID:17897870|PMID:17919502|PMID:17949296|PMID:18034201|PMID:18203200|PMID:18311837|PMID:18371106|PMID:18373411|PMID:18414213|PMID:18483695|PMID:18652531|PMID:18692069|PMID:18855987|PMID:19033537|PMID:19062534|PMID:19118915|PMID:19306278|PMID:19371217|PMID:19419418|PMID:19783880|PMID:19937698|PMID:20045993|PMID:20082719|PMID:20301685|PMID:20333758|PMID:20437613|PMID:20453399|PMID:20465995|PMID:20485189|PMID:20491539|PMID:20517649|PMID:20931554|PMID:20958917|PMID:20967755|PMID:21034864|PMID:21219664|PMID:21350584|PMID:21398519|PMID:21454443|PMID:21610751|PMID:21682854|PMID:21794208|PMID:21796144|PMID:21832955|PMID:22106832|PMID:22221592|PMID:22240481|PMID:22286624|PMID:22308153|PMID:22484412|PMID:22677543|PMID:22692182|PMID:22720308|PMID:22730635|PMID:22735241|PMID:22774841|PMID:22820477|PMID:22898812|PMID:22940187|PMID:23158531|PMID:23159873|PMID:23219664|PMID:23235335|PMID:23333878|PMID:2333878|PMID:23389864|PMID:23430806|PMID:23430908|PMID:23518715|PMID:23525077|PMID:23551039|PMID:23556051|PMID:23567103|PMID:23774950|PMID:23843956|PMID:23962630|PMID:23982005|PMID:24010089|PMID:24023303|PMID:24033266|PMID:24094725|PMID:24146181|PMID:24253677|PMID:24517292|PMID:24661374|PMID:24706876|PMID:24878384|PMID:24897373|PMID:24909901|PMID:25086856|PMID:25089800|PMID:25130000|PMID:25333069|PMID:25390358|PMID:25497208|PMID:25525159|PMID:25617204|PMID:25637381|PMID:25678388|PMID:25704634|PMID:25741868|PMID:25825851|PMID:25982861|PMID:25988284|PMID:26004889|PMID:26032686|PMID:2610069|PMID:26206375|PMID:26253413|PMID:26269689|PMID:26275891|PMID:26286547|PMID:26483271|PMID:26580967|PMID:26764160|PMID:26799313|PMID:26819605|PMID:26829729|PMID:27022412|PMID:27398169|PMID:27528516|PMID:27638368|PMID:27706781|PMID:27935710|PMID:27982432|PMID:28119449|PMID:28212618|PMID:28271598|PMID:28492532|PMID:28515472|PMID:28554332|PMID:28564725|PMID:28602929|PMID:28717664|PMID:28776642|PMID:29063292|PMID:29181760|PMID:29431110|PMID:29473088|PMID:29674751|PMID:29790872|PMID:29907136|PMID:29930488|PMID:29961769|PMID:29979436|PMID:30097039|PMID:30120852|PMID:30212743|PMID:30230192|PMID:30232804|PMID:30254379|PMID:30275481|PMID:30366773|PMID:30384382|PMID:30556376|PMID:30558096|PMID:30609409|PMID:30655162|PMID:30702195|PMID:30723317|PMID:30842500|PMID:30884209|PMID:31010795|PMID:31059521|PMID:31169307|PMID:31408533|PMID:31449670|PMID:31474638|PMID:31589614|PMID:31598802|PMID:31620489|PMID:31637888|PMID:31664448|PMID:31708252|PMID:31738409|PMID:31743419|PMID:31751128|PMID:31783295|PMID:31804371|PMID:31980526|PMID:32043565|PMID:32118851|PMID:32154060|PMID:32248359|PMID:32270360|PMID:32284880|PMID:32291276|PMID:32532207|PMID:32685348|PMID:32770663|PMID:32778786|PMID:32794656|PMID:32911910|PMID:33098801|PMID:33100332|PMID:33159804|PMID:33223529|PMID:33258288|PMID:33640437|PMID:33668890|PMID:33763395|PMID:34400371|PMID:34426522|PMID:34470610|PMID:7626145|PMID:8298641|PMID:8533760|PMID:8782057|PMID:893844|PMID:8938442|PMID:9199563|PMID:9214248|PMID:9311736|PMID:9352458|PMID:9452121|PMID:9482578|PMID:9504786|PMID:9536098|PMID:9554743 11912572 ATP7B ATPase copper transporting beta gene DOID:630 genetic disease ISO RGD:731392 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:9654149|PMID:9671269|PMID:9724794|PMID:9801873|PMID:9829905|PMID:9837819|PMID:9887381 11912572 ATP7B ATPase copper transporting beta gene DOID:684 hepatocellular carcinoma onset ISO RGD:2180 D RGD:9068941 20201211 RGD PMID:8291609|REF_RGD_ID:15036817 11912572 ATP7B ATPase copper transporting beta gene DOID:686 liver carcinoma ISO RGD:2180 D RGD:9068941 20201218 RGD PMID:11509115|REF_RGD_ID:1302456 11912572 ATP7B ATPase copper transporting beta gene DOID:893 Wilson disease ISO RGD:731392 D RGD:7240710 20180130 OMIM 11912572 ATP7B ATPase copper transporting beta gene DOID:893 Wilson disease ISO RGD:731392 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10051024|PMID:10070620|PMID:10194254|PMID:10406672|PMID:10441329|PMID:10447265|PMID:10453196|PMID:10502776|PMID:10502777|PMID:10544227|PMID:10557326|PMID:10721669|PMID:10790207|PMID:10942420|PMID:10980554|PMID:10981891|PMID:10994503|PMID:11021476|PMID:11043508|PMID:11060541|PMID:11093740|PMID:11175281|PMID:11180609|PMID:11216666|PMID:11243728|PMID:11405812|PMID:11472373|PMID:11479773|PMID:11690702|PMID:11721763|PMID:11775208|PMID:11857545|PMID:11954751|PMID:12032531|PMID:12202071|PMID:12325021|PMID:12376745|PMID:12515040|PMID:12544487|PMID:12557139|PMID:12756138|PMID:12812649|PMID:12885331|PMID:12955875|PMID:14616767|PMID:14639035|PMID:14748773|PMID:14761325|PMID:14962673|PMID:14966923|PMID:14974157|PMID:14986826|PMID:15024742|PMID:15147237|PMID:15202786|PMID:15205462|PMID:15205742|PMID:15337266|PMID:15523622|PMID:15524314|PMID:15557537|PMID:15571607|PMID:15723329|PMID:15811015|PMID:15845031|PMID:15952988|PMID:15967699|PMID:15994426|PMID:16088907|PMID:16133174|PMID:16175588|PMID:16199547|PMID:16207219|PMID:16233999|PMID:16234011|PMID:16283883|PMID:16416207|PMID:16423615|PMID:16472602|PMID:16495228|PMID:16510432|PMID:16545904|PMID:16567646|PMID:16603785|PMID:16644258|PMID:16649058|PMID:16684691|PMID:16696937|PMID:16791614|PMID:16868807|PMID:16922724|PMID:16939419|PMID:16998287|PMID:16998622|PMID:17154398|PMID:17160357|PMID:17264425|PMID:17272994|PMID:17300695|PMID:17317524|PMID:17325640|PMID:17410460|PMID:17433323|PMID:17576681|PMID:17587212|PMID:17629589|PMID:17634212|PMID:17680703|PMID:17717039|PMID:17718866|PMID:17823867|PMID:17876883|PMID:17897870|PMID:17919502|PMID:17949296|PMID:18034201|PMID:18156766|PMID:18203200|PMID:18286826|PMID:18311837|PMID:18371106|PMID:18373411|PMID:18403153|PMID:18414213|PMID:18416466|PMID:18424137|PMID:18483695|PMID:18556333|PMID:18652531|PMID:18692069|PMID:18698682|PMID:18728530|PMID:18760268|PMID:18841562|PMID:18841564|PMID:18855987|PMID:19033537|PMID:19062534|PMID:19118915|PMID:19172127|PMID:19306278|PMID:19371217|PMID:19381668|PMID:19419418|PMID:19449859|PMID:19484379|PMID:19514071|PMID:19540904|PMID:19596473|PMID:19700008|PMID:19725132|PMID:19783880|PMID:19937698|PMID:20045993|PMID:20082719|PMID:20301685|PMID:20333758|PMID:20421574|PMID:20437613|PMID:20453399|PMID:20465995|PMID:20485189|PMID:20491539|PMID:20517649|PMID:20931554|PMID:20958917|PMID:20967755|PMID:21034864|PMID:21219664|PMID:21334398|PMID:21350584|PMID:21398519|PMID:21454443|PMID:21610751|PMID:21645214|PMID:21682854|PMID:21707886|PMID:21794208|PMID:21796144|PMID:21832955|PMID:21925265|PMID:21956287|PMID:21982967|PMID:22019423|PMID:22046264|PMID:22087377|PMID:22093921|PMID:22106832|PMID:22170460|PMID:22221592|PMID:22240481|PMID:22286624|PMID:22308153|PMID:22484412|PMID:22494076|PMID:22677543|PMID:22687675|PMID:22692182|PMID:22720273|PMID:22720308|PMID:22730635|PMID:22735241|PMID:22745856|PMID:22763723|PMID:22774841|PMID:22820477|PMID:22898812|PMID:22940187|PMID:22955616|PMID:23158531|PMID:23159873|PMID:23219664|PMID:23235335|PMID:23275100|PMID:23333878|PMID:2333878|PMID:23382538|PMID:23389864|PMID:23430806|PMID:23430908|PMID:23486543|PMID:23518715|PMID:23525077|PMID:23551039|PMID:23556051|PMID:23567103|PMID:23607698|PMID:23774950|PMID:23789284|PMID:23843956|PMID:23885147|PMID:23962630|PMID:23982005|PMID:24003324|PMID:24010089|PMID:24023303|PMID:24033266|PMID:2409472|PMID:24094725|PMID:24118554|PMID:24119323|PMID:24146181|PMID:24253677|PMID:24475083|PMID:24476933|PMID:24517292|PMID:24555712|PMID:24661374|PMID:24668339|PMID:24706876|PMID:24718822|PMID:24720933|PMID:24794161|PMID:24798599|PMID:24878384|PMID:24897373|PMID:24909901|PMID:24932333|PMID:25014046|PMID:25046119|PMID:25086856|PMID:25089800|PMID:25130000|PMID:25199035|PMID:25327413|PMID:25333069|PMID:25376582|PMID:25390358|PMID:25465132|PMID:25497208|PMID:25516681|PMID:25525159|PMID:25617204|PMID:25637381|PMID:25678388|PMID:25704483|PMID:25704634|PMID:25741868|PMID:25825851|PMID:25982861|PMID:25988284|PMID:26004889|PMID:26031236|PMID:26032686|PMID:2610069|PMID:26206375 11912572 ATP7B ATPase copper transporting beta gene DOID:893 Wilson disease ISO RGD:731392 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:26207595|PMID:26215059|PMID:26253413|PMID:26269689|PMID:26275891|PMID:26286547|PMID:26466587|PMID:26483271|PMID:26580967|PMID:26650869|PMID:26660341|PMID:26752957|PMID:26764160|PMID:26782526|PMID:2679931|PMID:26799313|PMID:26807378|PMID:26819605|PMID:26829729|PMID:27022412|PMID:27122662|PMID:27398169|PMID:27437191|PMID:27499926|PMID:27528516|PMID:27535533|PMID:27638368|PMID:27706781|PMID:27930511|PMID:27935710|PMID:27941192|PMID:27982432|PMID:27992490|PMID:28119449|PMID:28212618|PMID:28265897|PMID:28271598|PMID:28392828|PMID:28433102|PMID:28443131|PMID:28492532|PMID:28507923|PMID:28515472|PMID:28554332|PMID:28564725|PMID:28602929|PMID:28717664|PMID:28776642|PMID:29063292|PMID:29085216|PMID:29181760|PMID:29321352|PMID:29356957|PMID:29381936|PMID:29418065|PMID:29431110|PMID:29473088|PMID:29482223|PMID:29540233|PMID:29637721|PMID:29649982|PMID:29674751|PMID:29761093|PMID:29790872|PMID:29907136|PMID:29914392|PMID:29915382|PMID:29930488|PMID:29961769|PMID:29979436|PMID:30087448|PMID:30097039|PMID:30120852|PMID:30212743|PMID:30230192|PMID:30232804|PMID:30254379|PMID:30275481|PMID:30366773|PMID:30384382|PMID:30426382|PMID:30556376|PMID:30558096|PMID:30609409|PMID:30655162|PMID:30676690|PMID:30702195|PMID:30723317|PMID:30842500|PMID:30884209|PMID:30980273|PMID:31000363|PMID:31010795|PMID:31059521|PMID:31169307|PMID:31172689|PMID:31286540|PMID:31408533|PMID:31449670|PMID:31474638|PMID:31589614|PMID:31598802|PMID:31620489|PMID:31637888|PMID:31664448|PMID:31708252|PMID:31738409|PMID:31743419|PMID:31751128|PMID:31783295|PMID:31804371|PMID:31942415|PMID:31980526|PMID:32043565|PMID:32067425|PMID:32118851|PMID:32154060|PMID:32248359|PMID:32270360|PMID:32284880|PMID:32291276|PMID:32532207|PMID:32539308|PMID:32613181|PMID:32618023|PMID:32685348|PMID:32770663|PMID:32778786|PMID:32794656|PMID:32901917|PMID:32911910|PMID:33098801|PMID:33100332|PMID:33159804|PMID:33223529|PMID:33258288|PMID:33260258|PMID:33265091|PMID:33640437|PMID:33668890|PMID:33719328|PMID:33763395|PMID:33948933|PMID:34002136|PMID:34091542|PMID:34131283|PMID:34240825|PMID:34324271|PMID:34381801|PMID:34400371|PMID:34426522|PMID:34470610|PMID:34539730|PMID:34773664|PMID:35079019|PMID:35193651|PMID:35864215|PMID:7626145|PMID:7726170|PMID:7833924|PMID:8203200|PMID:8298639|PMID:8298640|PMID:8298641|PMID:8526905|PMID:8533760|PMID:8782057|PMID:8931691|PMID:893844|PMID:8938442|PMID:8980283|PMID:9199563|PMID:9214248|PMID:9222767|PMID:9311736|PMID:9352458|PMID:9407345|PMID:9452121|PMID:9482578|PMID:9504786|PMID:9536098|PMID:9554743|PMID:9654149|PMID:9671269|PMID:9724794|PMID:9801873|PMID:9829905|PMID:9837819|PMID:9887381 11912572 ATP7B ATPase copper transporting beta gene DOID:893 Wilson disease treatment ISO RGD:731392 D RGD:9068941 20200609 RGD PMID:15511628|PMID:16803697|REF_RGD_ID:1554300|REF_RGD_ID:25671604 11912572 ATP7B ATPase copper transporting beta gene DOID:9000918 Disease Progression ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12216079|PMID:12509969|PMID:19296535 11912572 ATP7B ATPase copper transporting beta gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23792645 11912572 ATP7B ATPase copper transporting beta gene DOID:9001793 Generalized Epilepsy ISO RGD:731392 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:10447265|PMID:10790207|PMID:11243728|PMID:12885331|PMID:15811015|PMID:16207219|PMID:16684691|PMID:16791614|PMID:18414213|PMID:20517649|PMID:21610751|PMID:22484412|PMID:22677543|PMID:22692182|PMID:23518715|PMID:23551039|PMID:23789284|PMID:24517292|PMID:25390358|PMID:25741868|PMID:25825851|PMID:26764160|PMID:2679931|PMID:26799313|PMID:28492532|PMID:30097039|PMID:30232804|PMID:32043565|PMID:32118851|PMID:32154060|PMID:32248359|PMID:33640437|PMID:9671269 11912572 ATP7B ATPase copper transporting beta gene DOID:9002265 Kidney Neoplasms ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11509115 11912572 ATP7B ATPase copper transporting beta gene DOID:9002304 Prostatic Neoplasms ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25320179 11912572 ATP7B ATPase copper transporting beta gene DOID:9002762 Ovarian Neoplasms ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12216079 11912572 ATP7B ATPase copper transporting beta gene DOID:9002762 Ovarian Neoplasms severity ISO RGD:731392 D RGD:9068941 20200609 RGD PMID:12216079|REF_RGD_ID:2298865 11912572 ATP7B ATPase copper transporting beta gene DOID:9003370 Dyslipidemias ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17303181 11912572 ATP7B ATPase copper transporting beta gene DOID:9004265 Endometrioid Carcinomas disease_progression ISO RGD:731392 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:15790435|REF_RGD_ID:2298864 11912572 ATP7B ATPase copper transporting beta gene DOID:9004590 Acute Liver Failure ISO RGD:2180 D RGD:9068941 20201211 RGD PMID:8291609|REF_RGD_ID:15036817 11912572 ATP7B ATPase copper transporting beta gene DOID:9004590 Acute Liver Failure ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25134866 11912572 ATP7B ATPase copper transporting beta gene DOID:9005372 Inflammation ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22945834 11912572 ATP7B ATPase copper transporting beta gene DOID:9006205 Animal Disease Models ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11803042|PMID:15911138|PMID:21146535|PMID:21364284 11912572 ATP7B ATPase copper transporting beta gene DOID:9006435 Mental Retardation Wolff Type ISO RGD:731392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff Zimmermann syndrome PMID:10441329|PMID:16133174|PMID:16283883|PMID:17264425|PMID:21034864|PMID:21645214|PMID:23518715|PMID:23551039|PMID:24094725|PMID:25525159|PMID:25741868|PMID:28492532|PMID:30426382|PMID:31059521|PMID:9887381 11912572 ATP7B ATPase copper transporting beta gene DOID:9007188 Liver Neoplasms ISO RGD:2180 D RGD:9068941 20201218 RGD PMID:11509115|REF_RGD_ID:1302456 11912572 ATP7B ATPase copper transporting beta gene DOID:9007188 Liver Neoplasms ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11509115 11912572 ATP7B ATPase copper transporting beta gene DOID:9007188 Liver Neoplasms onset ISO RGD:2180 D RGD:9068941 20210219 RGD compared to LEC/Tj; PMID:11509115|REF_RGD_ID:1302456 11912572 ATP7B ATPase copper transporting beta gene DOID:9007364 Mouth Neoplasms ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12509969 11912572 ATP7B ATPase copper transporting beta gene DOID:9008443 Colorectal Neoplasms ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19296535 11912572 ATP7B ATPase copper transporting beta gene DOID:9008939 Breast Neoplasms ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11802810 11912572 ATP7B ATPase copper transporting beta gene DOID:9452 fatty liver disease ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17303181 11912603 SEC22C SEC22 homolog C, vesicle trafficking protein gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1607079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 11912603 SEC22C SEC22 homolog C, vesicle trafficking protein gene DOID:630 genetic disease ISO RGD:1607079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912619 MRPL51 mitochondrial ribosomal protein L51 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1315444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11912619 MRPL51 mitochondrial ribosomal protein L51 gene DOID:0080600 COVID-19 ISO RGD:1315444 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11912619 MRPL51 mitochondrial ribosomal protein L51 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1315444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11912619 MRPL51 mitochondrial ribosomal protein L51 gene DOID:0111621 Temtamy syndrome ISO RGD:1315444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11912619 MRPL51 mitochondrial ribosomal protein L51 gene DOID:630 genetic disease ISO RGD:1315444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912619 MRPL51 mitochondrial ribosomal protein L51 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1315444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11912626 DEGS2 delta 4-desaturase, sphingolipid 2 gene DOID:630 genetic disease ISO RGD:1352357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912633 IFT25 intraflagellar transport 25 gene DOID:14766 renal agenesis ISO RGD:1345374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal agenesis 11912633 IFT25 intraflagellar transport 25 gene DOID:630 genetic disease ISO RGD:1345374 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912655 TREX2 three prime repair exonuclease 2 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1354135 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11912655 TREX2 three prime repair exonuclease 2 gene DOID:0050476 Barth syndrome ISO RGD:1354135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11912655 TREX2 three prime repair exonuclease 2 gene DOID:0050800 creatine transporter deficiency ISO RGD:1354135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11912655 TREX2 three prime repair exonuclease 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11912655 TREX2 three prime repair exonuclease 2 gene DOID:0112003 immunodeficiency 33 ISO RGD:1354135 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11912655 TREX2 three prime repair exonuclease 2 gene DOID:10588 adrenoleukodystrophy ISO RGD:1354135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11912655 TREX2 three prime repair exonuclease 2 gene DOID:1059 intellectual disability ISO RGD:1354135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11912655 TREX2 three prime repair exonuclease 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1354135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11912655 TREX2 three prime repair exonuclease 2 gene DOID:12849 autistic disorder ISO RGD:1354135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11912655 TREX2 three prime repair exonuclease 2 gene DOID:13628 favism ISO RGD:1354135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11912655 TREX2 three prime repair exonuclease 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1354135 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11912655 TREX2 three prime repair exonuclease 2 gene DOID:607 paraplegia ISO RGD:1354135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11912655 TREX2 three prime repair exonuclease 2 gene DOID:630 genetic disease ISO RGD:1354135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912655 TREX2 three prime repair exonuclease 2 gene DOID:9002720 Splenomegaly ISO RGD:1354135 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11912655 TREX2 three prime repair exonuclease 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1562245 D RGD:9068941 20200609 RGD PMID:20973890|REF_RGD_ID:5490977 11912668 TMEM242 transmembrane protein 242 gene DOID:10348 blepharophimosis ISO RGD:1316350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis PMID:24674232 11912668 TMEM242 transmembrane protein 242 gene DOID:630 genetic disease ISO RGD:1316350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912675 EIF5AL1 eukaryotic translation initiation factor 5A like 1 gene DOID:630 genetic disease ISO RGD:1352580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912680 ZNF839 zinc finger protein 839 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1343787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11912680 ZNF839 zinc finger protein 839 gene DOID:630 genetic disease ISO RGD:1343787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912693 LRFN2 leucine rich repeat and fibronectin type III domain containing 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1323494 D RGD:9068941 20220825 MouseDO 11912693 LRFN2 leucine rich repeat and fibronectin type III domain containing 2 gene DOID:630 genetic disease ISO RGD:1323493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912705 RNF40 ring finger protein 40 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:732458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11912705 RNF40 ring finger protein 40 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:732458 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 11912705 RNF40 ring finger protein 40 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:628638 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:21734099|REF_RGD_ID:9587431 11912705 RNF40 ring finger protein 40 gene DOID:630 genetic disease ISO RGD:732458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912735 MYRIP myosin VIIA and Rab interacting protein gene DOID:630 genetic disease ISO RGD:1351320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912756 DUSP2 dual specificity phosphatase 2 gene DOID:0080600 COVID-19 ISO RGD:1314060 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 11912756 DUSP2 dual specificity phosphatase 2 gene DOID:1059 intellectual disability ISO RGD:1314060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11912756 DUSP2 dual specificity phosphatase 2 gene DOID:5419 schizophrenia ISO RGD:1314060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11912756 DUSP2 dual specificity phosphatase 2 gene DOID:630 genetic disease ISO RGD:1314060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912756 DUSP2 dual specificity phosphatase 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1314060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11912765 CTNNA1 catenin alpha 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1348842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11912765 CTNNA1 catenin alpha 1 gene DOID:0060863 patterned macular dystrophy ISO RGD:1348842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26691986 11912765 CTNNA1 catenin alpha 1 gene DOID:0060864 patterned macular dystrophy 2 ISO RGD:1348842 D RGD:7240710 20190315 OMIM 11912765 CTNNA1 catenin alpha 1 gene DOID:0060864 patterned macular dystrophy 2 ISO RGD:1348842 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Patterned macular dystrophy 2 PMID:25741868|PMID:26691986|PMID:28041643|PMID:28492532|PMID:32051609|PMID:33137351|PMID:33435129|PMID:5442145 11912765 CTNNA1 catenin alpha 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1348842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11912765 CTNNA1 catenin alpha 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348842 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11912765 CTNNA1 catenin alpha 1 gene DOID:0080764 hereditary diffuse gastric cancer ISO RGD:1348842 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary diffuse gastric cancer PMID:28492532|PMID:30515673|PMID:32051609 11912765 CTNNA1 catenin alpha 1 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1348842 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 11912765 CTNNA1 catenin alpha 1 gene DOID:0111685 hereditary mixed polyposis syndrome 1 ISO RGD:1348842 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1 PMID:28492532|PMID:32051609 11912765 CTNNA1 catenin alpha 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1348842 D RGD:9068941 20200609 RGD PMID:17639504|REF_RGD_ID:2289791 11912765 CTNNA1 catenin alpha 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1348842 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:16334164|REF_RGD_ID:2289793 11912765 CTNNA1 catenin alpha 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1348842 D RGD:9068941 20200609 RGD PMID:17760743|REF_RGD_ID:2289491 11912765 CTNNA1 catenin alpha 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1348842 D RGD:9068941 20200609 RGD PMID:16426728|REF_RGD_ID:2298486 11912765 CTNNA1 catenin alpha 1 gene DOID:3457 invasive lobular carcinoma ISO RGD:1348842 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:12047765|REF_RGD_ID:2289795 11912765 CTNNA1 catenin alpha 1 gene DOID:3905 lung carcinoma ISO RGD:1359485 D RGD:9068941 20200609 RGD PMID:15195114|REF_RGD_ID:2289804 11912765 CTNNA1 catenin alpha 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1348842 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:9355975|REF_RGD_ID:2289799 11912765 CTNNA1 catenin alpha 1 gene DOID:5041 esophageal cancer disease_progression ISO RGD:1359485 D RGD:9068941 20200609 RGD PMID:9863006|REF_RGD_ID:2289811 11912765 CTNNA1 catenin alpha 1 gene DOID:5419 schizophrenia ISO RGD:1348842 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11912765 CTNNA1 catenin alpha 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11912765 CTNNA1 catenin alpha 1 gene DOID:630 genetic disease ISO RGD:1348842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11912765 CTNNA1 catenin alpha 1 gene DOID:8501 fundus dystrophy ISO RGD:1348842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28041643|PMID:28492532|PMID:30515673|PMID:32051609|PMID:33137351 11912765 CTNNA1 catenin alpha 1 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:1348842 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix PMID:11161853|REF_RGD_ID:2289797 11912765 CTNNA1 catenin alpha 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1348842 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:12047765|REF_RGD_ID:2289795 11912765 CTNNA1 catenin alpha 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1348842 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:9522220|REF_RGD_ID:2289798 11912765 CTNNA1 catenin alpha 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1348842 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix PMID:11161853|REF_RGD_ID:2289797 11912765 CTNNA1 catenin alpha 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11912765 CTNNA1 catenin alpha 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:17576681|PMID:18487285|PMID:19279422|PMID:21643010|PMID:23208944|PMID:25741868|PMID:26182300|PMID:26691986|PMID:26845104|PMID:28166811|PMID:28455161|PMID:28492532|PMID:29330337|PMID:9536098 11912765 CTNNA1 catenin alpha 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348842 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:25741868|PMID:26691986|PMID:26845104|PMID:28041643|PMID:28492532|PMID:29330337|PMID:30515673|PMID:32051609|PMID:32717343|PMID:33137351|PMID:33435129|PMID:9536098 11912765 CTNNA1 catenin alpha 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348842 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:25741868|PMID:26691986|PMID:26845104|PMID:28041643|PMID:28492532|PMID:29330337|PMID:30515673|PMID:32051609|PMID:32717343|PMID:33137351|PMID:33435129|PMID:9536098 11912765 CTNNA1 catenin alpha 1 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:1348842 D RGD:9068941 20200609 RGD PMID:16803534|REF_RGD_ID:2298485 11912765 CTNNA1 catenin alpha 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1348842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:31292255 11912765 CTNNA1 catenin alpha 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1348842 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:17223851|REF_RGD_ID:2289792 11912765 CTNNA1 catenin alpha 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1348842 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:11431364|REF_RGD_ID:2289796 11912765 CTNNA1 catenin alpha 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1348842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11912765 CTNNA1 catenin alpha 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11912765 CTNNA1 catenin alpha 1 gene DOID:9256 colorectal cancer ISO RGD:1348842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:28492532 11912788 ADCY1 adenylate cyclase 1 gene DOID:0060001 withdrawal disorder ISO RGD:1319601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16914643 11912788 ADCY1 adenylate cyclase 1 gene DOID:0110501 autosomal recessive nonsyndromic deafness 44 ISO RGD:1319601 D RGD:7240710 20180130 OMIM 11912788 ADCY1 adenylate cyclase 1 gene DOID:0110501 autosomal recessive nonsyndromic deafness 44 ISO RGD:1319601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 44 PMID:15583425|PMID:24033266|PMID:24482543|PMID:24824130|PMID:25741868|PMID:28492532 11912788 ADCY1 adenylate cyclase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11912788 ADCY1 adenylate cyclase 1 gene DOID:5409 lung small cell carcinoma ISO RGD:1319601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 11912788 ADCY1 adenylate cyclase 1 gene DOID:630 genetic disease ISO RGD:1319601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11912788 ADCY1 adenylate cyclase 1 gene DOID:9002362 Hyperkinesis ISO RGD:1319601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16914643 11912821 CLYBL citramalyl-CoA lyase gene DOID:0110878 holoprosencephaly 5 ISO RGD:1312156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 11912821 CLYBL citramalyl-CoA lyase gene DOID:14701 propionic acidemia ISO RGD:1312156 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 11912821 CLYBL citramalyl-CoA lyase gene DOID:4621 holoprosencephaly ISO RGD:1312156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 11912821 CLYBL citramalyl-CoA lyase gene DOID:630 genetic disease ISO RGD:1312156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912821 CLYBL citramalyl-CoA lyase gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1312156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11912838 C8H8orf48 chromosome 8 C8orf48 homolog gene DOID:630 genetic disease ISO RGD:2304146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912843 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:0050645 arterial tortuosity syndrome ISO RGD:1349728 D RGD:9068941 20210305 RGD DNA:missense mutation:CDS:p.D203A (human) PMID:22943132|REF_RGD_ID:42722010 11912843 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1349728 D RGD:7240710 20180130 OMIM 11912843 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1349728 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:15776121|PMID:16199547|PMID:16685658|PMID:17576681|PMID:17937443|PMID:19664000|PMID:2038931|PMID:20389311|PMID:21563328|PMID:22440127|PMID:22943132|PMID:23532871|PMID:24033266|PMID:25741868|PMID:25907466|PMID:26017485|PMID:27339457|PMID:28454995|PMID:28492532|PMID:28673110|PMID:29620724|PMID:30140196|PMID:31127727|PMID:31589614|PMID:34901216|PMID:8985490|PMID:9536098 11912843 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:0070135 autosomal recessive cutis laxa type IA ISO RGD:1349728 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1A PMID:15776121|PMID:16685658|PMID:17937443|PMID:19664000|PMID:20389311|PMID:21563328|PMID:22943132|PMID:23532871|PMID:24033266|PMID:25741868|PMID:25907466|PMID:27339457|PMID:28492532|PMID:31589614|PMID:34901216|PMID:8985490 11912843 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:0080685 aortic dissection ISO RGD:1349728 D RGD:9068941 20210305 RGD mRNA, protein:decreased expression:aorta wall (human) PMID:23518852|REF_RGD_ID:42722606 11912843 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:1059 intellectual disability ISO RGD:1349728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11912843 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:1380 endometrial cancer ameliorates ISO RGD:1349728 D RGD:9068941 20210305 RGD human EFEMP2 knockdown cell line in a mouse model PMID:28177909|REF_RGD_ID:42722012 11912843 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:1380 endometrial cancer exacerbates ISO RGD:1349728 D RGD:9068941 20210305 RGD protein:decreased expression:endometrium (human) PMID:28177909|REF_RGD_ID:42722012 11912843 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1349728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11912843 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:2394 ovarian cancer exacerbates ISO RGD:1349728 D RGD:9068941 20210305 RGD mRNA, protein:increased expression:ovary (human) PMID:25885889|REF_RGD_ID:42722014 11912843 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:2746 glycogen storage disease V ISO RGD:1349728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11912843 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:2893 cervix carcinoma exacerbates ISO RGD:1349728 D RGD:9068941 20210305 RGD mRNA, protein:increased expression:cervix epithelium (human) PMID:24737201|REF_RGD_ID:42722607 11912843 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:3144 cutis laxa ISO RGD:1551771 D RGD:9068941 20220825 MouseDO OMIM:123700 | OMIM:219100 | OMIM:219150 | OMIM:219200 | OMIM:612940 | OMIM:613177 | OMIM:614434 | OMIM:614437 | OMIM:614438 11912843 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:3347 osteosarcoma exacerbates ISO RGD:1349728 D RGD:9068941 20210305 RGD human EFEMP2 knockdown cell line in a mouse model PMID:28339091|REF_RGD_ID:42722011 11912843 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:3376 bone osteosarcoma disease_progression ISO RGD:1349728 D RGD:9068941 20210305 RGD protein:increased expression:bone tissue (human) PMID:27157136|REF_RGD_ID:42722013 11912843 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:3376 bone osteosarcoma exacerbates ISO RGD:1349728 D RGD:9068941 20210305 RGD mRNA, protein:increased expression:bone tissue (human ) PMID:28339091|REF_RGD_ID:42722011 11912843 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:3627 aortic aneurysm ISO RGD:1349728 D RGD:9068941 20210305 RGD DNA:missense mutation:CDS:p.E161K (human) PMID:22440127|REF_RGD_ID:42722009 11912843 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:3627 aortic aneurysm ISO RGD:1551771 D RGD:9068941 20220825 MouseDO 11912843 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:630 genetic disease ISO RGD:1349728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11912843 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:8398 osteoarthritis ISO RGD:1359496 D RGD:9068941 20210305 RGD mRNA:increased expression:articular cartilage of joint (rat) PMID:31396630|REF_RGD_ID:42722015 11912843 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:9002034 Autosomal Recessive Cutis Laxa ISO RGD:1349728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, recessive 11912843 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17929269 11912843 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1349728 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11912843 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1349728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 11912858 CHRM3 cholinergic receptor muscarinic 3 gene DOID:0050685 small cell carcinoma ISO RGD:734195 D RGD:9068941 20200609 RGD PMID:20150622|REF_RGD_ID:5133439 11912858 CHRM3 cholinergic receptor muscarinic 3 gene DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome ISO RGD:737208 D RGD:9068941 20220825 MouseDO OMIM:155310 11912858 CHRM3 cholinergic receptor muscarinic 3 gene DOID:0060889 prune belly syndrome ISO RGD:734195 D RGD:7240710 20180130 OMIM 11912858 CHRM3 cholinergic receptor muscarinic 3 gene DOID:0060889 prune belly syndrome ISO RGD:734195 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Prune belly syndrome PMID:25741868|PMID:28492532|PMID:31441039 11912858 CHRM3 cholinergic receptor muscarinic 3 gene DOID:11383 cryptorchidism ISO RGD:734195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22077972 11912858 CHRM3 cholinergic receptor muscarinic 3 gene DOID:1540 parathyroid carcinoma ISO RGD:734195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11912858 CHRM3 cholinergic receptor muscarinic 3 gene DOID:2841 asthma ISO RGD:737208 D RGD:9068941 20200609 RGD PMID:18348887|REF_RGD_ID:5133438 11912858 CHRM3 cholinergic receptor muscarinic 3 gene DOID:2841 asthma severity ISO RGD:734195 D RGD:9068941 20200609 RGD PMID:20394512|REF_RGD_ID:5133437 11912858 CHRM3 cholinergic receptor muscarinic 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:734195 D RGD:9068941 20200609 RGD PMID:19281093|REF_RGD_ID:5133441 11912858 CHRM3 cholinergic receptor muscarinic 3 gene DOID:365 bladder disease ISO RGD:734195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22077972 11912858 CHRM3 cholinergic receptor muscarinic 3 gene DOID:365 bladder disease ISO RGD:734195 D RGD:9068941 20200609 RGD PMID:17922784|REF_RGD_ID:5133442 11912858 CHRM3 cholinergic receptor muscarinic 3 gene DOID:3770 pulmonary fibrosis ISO RGD:734195 D RGD:9068941 20200609 RGD PMID:18480105|REF_RGD_ID:5133440 11912858 CHRM3 cholinergic receptor muscarinic 3 gene DOID:5082 liver cirrhosis ISO RGD:734195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20197374 11912858 CHRM3 cholinergic receptor muscarinic 3 gene DOID:630 genetic disease ISO RGD:734195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11912858 CHRM3 cholinergic receptor muscarinic 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11912858 CHRM3 cholinergic receptor muscarinic 3 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:734195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 11912858 CHRM3 cholinergic receptor muscarinic 3 gene DOID:9006095 Ascites ISO RGD:734195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20197374 11912858 CHRM3 cholinergic receptor muscarinic 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20197374 11912858 CHRM3 cholinergic receptor muscarinic 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11912895 SP9 Sp9 transcription factor gene DOID:0090022 split hand-foot malformation 5 ISO RGD:2303677 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11912895 SP9 Sp9 transcription factor gene DOID:1059 intellectual disability ISO RGD:2303677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities 11912895 SP9 Sp9 transcription factor gene DOID:12849 autistic disorder ISO RGD:2303677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior 11912895 SP9 Sp9 transcription factor gene DOID:630 genetic disease ISO RGD:2303677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912895 SP9 Sp9 transcription factor gene DOID:9001793 Generalized Epilepsy ISO RGD:2303677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 11912895 SP9 Sp9 transcription factor gene DOID:9005603 Muscle Hypotonia ISO RGD:2303677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular hypotonia 11912909 MPHOSPH8 M-phase phosphoprotein 8 gene DOID:630 genetic disease ISO RGD:1603305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11912927 SCAND3 SCAN domain containing 3 gene DOID:11372 megacolon ISO RGD:1351610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11912927 SCAND3 SCAN domain containing 3 gene DOID:630 genetic disease ISO RGD:1351610 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913013 LITAF lipopolysaccharide induced TNF factor gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:735583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I 11913013 LITAF lipopolysaccharide induced TNF factor gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:735583 D RGD:7240710 20180130 OMIM 11913013 LITAF lipopolysaccharide induced TNF factor gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:735583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:12525712|PMID:1407588|PMID:15122712|PMID:15776420|PMID:15776429|PMID:15786462|PMID:16118794|PMID:16373087|PMID:16787513|PMID:17576681|PMID:19541485|PMID:20301384|PMID:20709679|PMID:21896645|PMID:2239969|PMID:22765307|PMID:23166352|PMID:23319192|PMID:23359569|PMID:23576546|PMID:24604904|PMID:24844793|PMID:24880540|PMID:25058650|PMID:25342198|PMID:25614874|PMID:25741868|PMID:25963657|PMID:26392352|PMID:26467025|PMID:27549087|PMID:28211240|PMID:28492532|PMID:32376792|PMID:9536098 11913013 LITAF lipopolysaccharide induced TNF factor gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:735583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:12525712|PMID:1407588|PMID:15122712|PMID:15776420|PMID:15776429|PMID:15786462|PMID:16373087|PMID:16787513|PMID:19541485|PMID:20301384|PMID:20709679|PMID:21896645|PMID:2239969|PMID:22765307|PMID:23166352|PMID:23319192|PMID:23576546|PMID:24604904|PMID:24844793|PMID:24880540|PMID:25058650|PMID:25342198|PMID:25741868|PMID:26392352|PMID:26467025|PMID:27549087|PMID:28211240|PMID:28492532|PMID:32376792 11913013 LITAF lipopolysaccharide induced TNF factor gene DOID:12377 spinal muscular atrophy ISO RGD:735583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy 11913013 LITAF lipopolysaccharide induced TNF factor gene DOID:2538 Landau-Kleffner syndrome ISO RGD:735583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 11913013 LITAF lipopolysaccharide induced TNF factor gene DOID:5419 schizophrenia ISO RGD:735583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11913013 LITAF lipopolysaccharide induced TNF factor gene DOID:5812 MHC class II deficiency ISO RGD:735583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11913013 LITAF lipopolysaccharide induced TNF factor gene DOID:630 genetic disease ISO RGD:735583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12525712|PMID:1407588|PMID:15122712|PMID:15776429|PMID:15786462|PMID:16373087|PMID:16787513|PMID:17576681|PMID:20301384|PMID:2239969|PMID:22765307|PMID:23319192|PMID:23576546|PMID:24604904|PMID:25058650|PMID:25614874|PMID:25741868|PMID:26392352|PMID:26467025|PMID:27549087|PMID:28211240|PMID:28492532|PMID:32376792|PMID:9536098 11913013 LITAF lipopolysaccharide induced TNF factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:735583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29845714 11913013 LITAF lipopolysaccharide induced TNF factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69294 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:21575160|REF_RGD_ID:11533943 11913046 PDZD9 PDZ domain containing 9 gene DOID:0080114 mitochondrial complex III deficiency nuclear type 5 ISO RGD:1604496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 5 PMID:23281071|PMID:25741868|PMID:28275242|PMID:28492532 11913046 PDZD9 PDZ domain containing 9 gene DOID:12849 autistic disorder ISO RGD:1604496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11913046 PDZD9 PDZ domain containing 9 gene DOID:5419 schizophrenia ISO RGD:1604496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11913046 PDZD9 PDZ domain containing 9 gene DOID:630 genetic disease ISO RGD:1604496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913058 ARL8A ADP ribosylation factor like GTPase 8A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1348114 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11913058 ARL8A ADP ribosylation factor like GTPase 8A gene DOID:1540 parathyroid carcinoma ISO RGD:1348114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11913058 ARL8A ADP ribosylation factor like GTPase 8A gene DOID:630 genetic disease ISO RGD:1348114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913058 ARL8A ADP ribosylation factor like GTPase 8A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11913058 ARL8A ADP ribosylation factor like GTPase 8A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1348114 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11913058 ARL8A ADP ribosylation factor like GTPase 8A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11913069 DDIT4L DNA damage inducible transcript 4 like gene DOID:1909 melanoma ISO RGD:1342784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 11913069 DDIT4L DNA damage inducible transcript 4 like gene DOID:630 genetic disease ISO RGD:1342784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913076 MAZ MYC associated zinc finger protein gene DOID:0060019 coronin-1A deficiency ISO RGD:1315360 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11913076 MAZ MYC associated zinc finger protein gene DOID:0060041 autism spectrum disorder ISO RGD:1315360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 11913076 MAZ MYC associated zinc finger protein gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1315360 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 11913076 MAZ MYC associated zinc finger protein gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1315360 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 11913076 MAZ MYC associated zinc finger protein gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1315360 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11913076 MAZ MYC associated zinc finger protein gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1315360 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 11913076 MAZ MYC associated zinc finger protein gene DOID:12849 autistic disorder ISO RGD:1315360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11913076 MAZ MYC associated zinc finger protein gene DOID:1882 atrial heart septal defect ISO RGD:1315360 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 11913076 MAZ MYC associated zinc finger protein gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1315360 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11913076 MAZ MYC associated zinc finger protein gene DOID:5419 schizophrenia ISO RGD:1315360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11913076 MAZ MYC associated zinc finger protein gene DOID:630 genetic disease ISO RGD:1315360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913076 MAZ MYC associated zinc finger protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11913076 MAZ MYC associated zinc finger protein gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1315360 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11913076 MAZ MYC associated zinc finger protein gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1315360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 11913094 MLF1 myeloid leukemia factor 1 gene DOID:0080600 COVID-19 ISO RGD:1315708 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11913094 MLF1 myeloid leukemia factor 1 gene DOID:630 genetic disease ISO RGD:1315708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913094 MLF1 myeloid leukemia factor 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1315708 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11913109 MAPK13 mitogen-activated protein kinase 13 gene DOID:0050553 JMP syndrome ISO RGD:737240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11913109 MAPK13 mitogen-activated protein kinase 13 gene DOID:13580 cholestasis ISO RGD:737240 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20626112 11913109 MAPK13 mitogen-activated protein kinase 13 gene DOID:630 genetic disease ISO RGD:737240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913137 GPKOW G-patch domain and KOW motifs gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11913137 GPKOW G-patch domain and KOW motifs gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1343451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 11913137 GPKOW G-patch domain and KOW motifs gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1343451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11913137 GPKOW G-patch domain and KOW motifs gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1343451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11913137 GPKOW G-patch domain and KOW motifs gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1343451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11913137 GPKOW G-patch domain and KOW motifs gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1343451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 11913137 GPKOW G-patch domain and KOW motifs gene DOID:12849 autistic disorder ISO RGD:1343451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11913137 GPKOW G-patch domain and KOW motifs gene DOID:630 genetic disease ISO RGD:1343451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913152 PTK2 protein tyrosine kinase 2 gene DOID:0060074 ductal carcinoma in situ ISO RGD:732757 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:15564794|REF_RGD_ID:2292561 11913152 PTK2 protein tyrosine kinase 2 gene DOID:0060224 atrial fibrillation ISO RGD:732757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11913152 PTK2 protein tyrosine kinase 2 gene DOID:0080365 endometrial hyperplasia ISO RGD:732757 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:15536334|REF_RGD_ID:2292562 11913152 PTK2 protein tyrosine kinase 2 gene DOID:10283 prostate cancer ISO RGD:732757 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:12242727|REF_RGD_ID:2292570 11913152 PTK2 protein tyrosine kinase 2 gene DOID:10763 hypertension ISO RGD:3443 D RGD:9068941 20200609 RGD PMID:12732587|REF_RGD_ID:729831 11913152 PTK2 protein tyrosine kinase 2 gene DOID:10763 hypertension ISO RGD:3443 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:21068519|REF_RGD_ID:10041072 11913152 PTK2 protein tyrosine kinase 2 gene DOID:10952 nephritis treatment ISO RGD:3443 D RGD:9068941 20200609 RGD PMID:25176084|REF_RGD_ID:10041073 11913152 PTK2 protein tyrosine kinase 2 gene DOID:127 leiomyoma ISO RGD:732757 D RGD:9068941 20200609 RGD PMID:12517589|REF_RGD_ID:2292569 11913152 PTK2 protein tyrosine kinase 2 gene DOID:1749 squamous cell carcinoma ISO RGD:732757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21401805|PMID:25199511 11913152 PTK2 protein tyrosine kinase 2 gene DOID:2871 endometrial carcinoma severity ISO RGD:732757 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:15536334|REF_RGD_ID:2292562 11913152 PTK2 protein tyrosine kinase 2 gene DOID:289 endometriosis ISO RGD:732757 D RGD:9068941 20200609 RGD PMID:17543958|REF_RGD_ID:2292555 11913152 PTK2 protein tyrosine kinase 2 gene DOID:2893 cervix carcinoma ISO RGD:732757 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:cervix PMID:14675348|REF_RGD_ID:2292568 11913152 PTK2 protein tyrosine kinase 2 gene DOID:3068 glioblastoma ISO RGD:732757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12811834 11913152 PTK2 protein tyrosine kinase 2 gene DOID:326 ischemia ISO RGD:3443 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation:kidney PMID:17620366|REF_RGD_ID:2292577 11913152 PTK2 protein tyrosine kinase 2 gene DOID:3907 lung squamous cell carcinoma severity ISO RGD:732757 D RGD:9068941 20220512 RGD PMID:23906871|REF_RGD_ID:152176664 11913152 PTK2 protein tyrosine kinase 2 gene DOID:4001 ovarian carcinoma ISO RGD:732757 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:10526262|REF_RGD_ID:2292572 11913152 PTK2 protein tyrosine kinase 2 gene DOID:4001 ovarian carcinoma ISO RGD:732757 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:ovary PMID:15455382|REF_RGD_ID:2292563 11913152 PTK2 protein tyrosine kinase 2 gene DOID:4362 cervical cancer disease_progression ISO RGD:732757 D RGD:9068941 20200609 RGD PMID:16638855|REF_RGD_ID:2292556 11913152 PTK2 protein tyrosine kinase 2 gene DOID:4676 uremia ISO RGD:3443 D RGD:9068941 20200609 RGD protein:increased expression:parathyroid gland PMID:17514628|REF_RGD_ID:2292579 11913152 PTK2 protein tyrosine kinase 2 gene DOID:5409 lung small cell carcinoma ISO RGD:732757 D RGD:9068941 20200609 RGD DNA:CNV:: PMID:20802517|REF_RGD_ID:13825141 11913152 PTK2 protein tyrosine kinase 2 gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:732757 D RGD:9068941 20200609 RGD PMID:21800286|REF_RGD_ID:13825133 11913152 PTK2 protein tyrosine kinase 2 gene DOID:630 genetic disease ISO RGD:732757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913152 PTK2 protein tyrosine kinase 2 gene DOID:6432 pulmonary hypertension ISO RGD:732757 D RGD:9068941 20200609 RGD PMID:16244766|REF_RGD_ID:1581290 11913152 PTK2 protein tyrosine kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:3443 D RGD:9068941 20200609 RGD PMID:17203219|REF_RGD_ID:2292584 11913152 PTK2 protein tyrosine kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:732757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14578863 11913152 PTK2 protein tyrosine kinase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:732757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 11913152 PTK2 protein tyrosine kinase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:732757 D RGD:9068941 20220512 RGD associated with lung squamous cell carcinoma; protein:increased tyrosine phosphorylation:lymph node PMID:23906871|REF_RGD_ID:152176664 11913152 PTK2 protein tyrosine kinase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:3443 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:15930288|REF_RGD_ID:2292560 11913152 PTK2 protein tyrosine kinase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732758 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:16547501|REF_RGD_ID:2292557 11913152 PTK2 protein tyrosine kinase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3443 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:15378782|REF_RGD_ID:2292604 11913152 PTK2 protein tyrosine kinase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:3443 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:kidney PMID:17620366|REF_RGD_ID:2292577 11913152 PTK2 protein tyrosine kinase 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12811834|PMID:25199511 11913152 PTK2 protein tyrosine kinase 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3443 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression, increased serine and tyrosine phosphorylation:ventricle myocardium PMID:12732587|REF_RGD_ID:729831 11913152 PTK2 protein tyrosine kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3443 D RGD:9068941 20200609 RGD PMID:15930288|REF_RGD_ID:2292560 11913152 PTK2 protein tyrosine kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732757 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24809783 11913152 PTK2 protein tyrosine kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:732758 D RGD:9068941 20200609 RGD PMID:18056629|REF_RGD_ID:2292554 11913152 PTK2 protein tyrosine kinase 2 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3443 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary;protein:increased phosphorylation:ventricle myocardium PMID:17913382|REF_RGD_ID:5130174 11913152 PTK2 protein tyrosine kinase 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:732757 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25199511 11913152 PTK2 protein tyrosine kinase 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23804419 11913152 PTK2 protein tyrosine kinase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732757 D RGD:9068941 20200609 RGD DNA:amplification PMID:16457699|REF_RGD_ID:2292558 11913152 PTK2 protein tyrosine kinase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732757 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:16136050|REF_RGD_ID:2292559 11913212 FLOT2 flotillin 2 gene DOID:630 genetic disease ISO RGD:735666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913244 ARPP19 cAMP regulated phosphoprotein 19 gene DOID:2717 Bloom syndrome ISO RGD:1606318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11913244 ARPP19 cAMP regulated phosphoprotein 19 gene DOID:607 paraplegia ISO RGD:1606318 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 11913244 ARPP19 cAMP regulated phosphoprotein 19 gene DOID:630 genetic disease ISO RGD:1606318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913244 ARPP19 cAMP regulated phosphoprotein 19 gene DOID:9256 colorectal cancer ISO RGD:1606318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11913279 ADRA1B adrenoceptor alpha 1B gene DOID:10763 hypertension ISO RGD:10096 D RGD:9068941 20200609 RGD PMID:16095979|REF_RGD_ID:1625771 11913279 ADRA1B adrenoceptor alpha 1B gene DOID:11612 polycystic ovary syndrome ISO RGD:2054 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:ovary PMID:15795180|REF_RGD_ID:5508374 11913279 ADRA1B adrenoceptor alpha 1B gene DOID:2018 hyperinsulinism susceptibility ISO RGD:10096 D RGD:9068941 20200609 RGD PMID:14581480|REF_RGD_ID:1625772 11913279 ADRA1B adrenoceptor alpha 1B gene DOID:3602 toxic encephalopathy ISO RGD:733119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19125850 11913279 ADRA1B adrenoceptor alpha 1B gene DOID:557 kidney disease ISO RGD:733119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18257748 11913279 ADRA1B adrenoceptor alpha 1B gene DOID:630 genetic disease ISO RGD:733119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913279 ADRA1B adrenoceptor alpha 1B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11913279 ADRA1B adrenoceptor alpha 1B gene DOID:9002955 Nerve Degeneration ISO RGD:733119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12871582 11913279 ADRA1B adrenoceptor alpha 1B gene DOID:9003936 Cardiomegaly ISO RGD:733119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11278430|PMID:11940550 11913279 ADRA1B adrenoceptor alpha 1B gene DOID:9006024 Hypotension ISO RGD:733119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11278430 11913279 ADRA1B adrenoceptor alpha 1B gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:10096 D RGD:9068941 20200609 RGD PMID:14581480|REF_RGD_ID:1625772 11913290 ACP6 acid phosphatase 6, lysophosphatidic gene DOID:0060041 autism spectrum disorder ISO RGD:1314899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 11913290 ACP6 acid phosphatase 6, lysophosphatidic gene DOID:0060411 chromosome 1q21.1 deletion syndrome ISO RGD:1314899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome 11913290 ACP6 acid phosphatase 6, lysophosphatidic gene DOID:0060435 chromosome 1q21.1 duplication syndrome ISO RGD:1314899 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome 11913290 ACP6 acid phosphatase 6, lysophosphatidic gene DOID:0110231 cataract 1 multiple types ISO RGD:1314899 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 1 multiple types PMID:17601931|PMID:23720739|PMID:23772370|PMID:28492532 11913290 ACP6 acid phosphatase 6, lysophosphatidic gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1314899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 11913290 ACP6 acid phosphatase 6, lysophosphatidic gene DOID:1540 parathyroid carcinoma ISO RGD:1314899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11913290 ACP6 acid phosphatase 6, lysophosphatidic gene DOID:5419 schizophrenia ISO RGD:1314899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11913290 ACP6 acid phosphatase 6, lysophosphatidic gene DOID:630 genetic disease ISO RGD:1314899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913290 ACP6 acid phosphatase 6, lysophosphatidic gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11913290 ACP6 acid phosphatase 6, lysophosphatidic gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1314899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 11913290 ACP6 acid phosphatase 6, lysophosphatidic gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11913304 ALDH3A1 aldehyde dehydrogenase 3 family member A1 gene DOID:0060041 autism spectrum disorder ISO RGD:733180 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11913304 ALDH3A1 aldehyde dehydrogenase 3 family member A1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:733180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 11913304 ALDH3A1 aldehyde dehydrogenase 3 family member A1 gene DOID:10126 keratoconus ISO RGD:733180 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratoconus 11913304 ALDH3A1 aldehyde dehydrogenase 3 family member A1 gene DOID:12849 autistic disorder ISO RGD:733180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11913304 ALDH3A1 aldehyde dehydrogenase 3 family member A1 gene DOID:2349 arteriosclerosis ISO RGD:733180 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:erythrocyte PMID:3949078|REF_RGD_ID:2300309 11913304 ALDH3A1 aldehyde dehydrogenase 3 family member A1 gene DOID:630 genetic disease ISO RGD:733180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913304 ALDH3A1 aldehyde dehydrogenase 3 family member A1 gene DOID:83 cataract ISO RGD:733180 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28038895 11913304 ALDH3A1 aldehyde dehydrogenase 3 family member A1 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:733180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 11913304 ALDH3A1 aldehyde dehydrogenase 3 family member A1 gene DOID:9004321 Corneal Injuries ISO RGD:733180 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28038895 11913322 IDNK IDNK gluconokinase gene DOID:630 genetic disease ISO RGD:1347065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913350 SLC22A6 solute carrier family 22 member 6 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:619572 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11913350 SLC22A6 solute carrier family 22 member 6 gene DOID:1059 intellectual disability ISO RGD:619572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11913350 SLC22A6 solute carrier family 22 member 6 gene DOID:182 calcinosis ISO RGD:619572 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12803500 11913350 SLC22A6 solute carrier family 22 member 6 gene DOID:630 genetic disease ISO RGD:619572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913364 PTP4A1 protein tyrosine phosphatase 4A1 gene DOID:630 genetic disease ISO RGD:1352872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913374 AIFM3 apoptosis inducing factor mitochondria associated 3 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1604991 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 11913374 AIFM3 apoptosis inducing factor mitochondria associated 3 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1604991 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 11913374 AIFM3 apoptosis inducing factor mitochondria associated 3 gene DOID:1059 intellectual disability ISO RGD:1604991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11913374 AIFM3 apoptosis inducing factor mitochondria associated 3 gene DOID:11198 DiGeorge syndrome ISO RGD:1604991 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 11913374 AIFM3 apoptosis inducing factor mitochondria associated 3 gene DOID:11372 megacolon ISO RGD:1604991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11913374 AIFM3 apoptosis inducing factor mitochondria associated 3 gene DOID:12583 velocardiofacial syndrome ISO RGD:1604991 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 11913374 AIFM3 apoptosis inducing factor mitochondria associated 3 gene DOID:12849 autistic disorder ISO RGD:1604991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11913374 AIFM3 apoptosis inducing factor mitochondria associated 3 gene DOID:1826 epilepsy ISO RGD:1604991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11913374 AIFM3 apoptosis inducing factor mitochondria associated 3 gene DOID:5419 schizophrenia ISO RGD:1604991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11913374 AIFM3 apoptosis inducing factor mitochondria associated 3 gene DOID:612 primary immunodeficiency disease ISO RGD:1604991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11913374 AIFM3 apoptosis inducing factor mitochondria associated 3 gene DOID:630 genetic disease ISO RGD:1604991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913374 AIFM3 apoptosis inducing factor mitochondria associated 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11913374 AIFM3 apoptosis inducing factor mitochondria associated 3 gene DOID:9007661 Dwarfism ISO RGD:1604991 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11913415 TMEM138 transmembrane protein 138 gene DOID:0050777 Joubert syndrome ISO RGD:1604817 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:22282472|PMID:28102635|PMID:28492532 11913415 TMEM138 transmembrane protein 138 gene DOID:0050777 Joubert syndrome ISO RGD:1604817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:17576681|PMID:22282472|PMID:27081510|PMID:28102635|PMID:28492532|PMID:9536098 11913415 TMEM138 transmembrane protein 138 gene DOID:0050778 Meckel syndrome ISO RGD:1604817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome 11913415 TMEM138 transmembrane protein 138 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1604817 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11913415 TMEM138 transmembrane protein 138 gene DOID:0110985 Joubert Syndrome 16 ISO RGD:1604817 D RGD:7240710 20180130 OMIM 11913415 TMEM138 transmembrane protein 138 gene DOID:0110985 Joubert Syndrome 16 ISO RGD:1604817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 16 PMID:17576681|PMID:22282472|PMID:25741868|PMID:26092869|PMID:26489029|PMID:27081510|PMID:27434533|PMID:28102635|PMID:28289185|PMID:28492532|PMID:32404165|PMID:9536098 11913415 TMEM138 transmembrane protein 138 gene DOID:1059 intellectual disability ISO RGD:1604817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11913415 TMEM138 transmembrane protein 138 gene DOID:630 genetic disease ISO RGD:1604817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11913445 HIF3A hypoxia inducible factor 3 subunit alpha gene DOID:630 genetic disease ISO RGD:1605351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913445 HIF3A hypoxia inducible factor 3 subunit alpha gene DOID:6432 pulmonary hypertension ISO RGD:70332 D RGD:9068941 20200609 RGD PMID:16215633|REF_RGD_ID:10395375 11913488 CRNN cornulin gene DOID:0111940 immunodeficiency 42 ISO RGD:1323410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11913488 CRNN cornulin gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1323410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11913488 CRNN cornulin gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1323410 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11913488 CRNN cornulin gene DOID:1540 parathyroid carcinoma ISO RGD:1323410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11913488 CRNN cornulin gene DOID:5812 MHC class II deficiency ISO RGD:1323410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11913488 CRNN cornulin gene DOID:630 genetic disease ISO RGD:1323410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913488 CRNN cornulin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11913496 MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1320222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984749|PMID:21984750|PMID:21984751|PMID:25255310 11913496 MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1320222 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 11913496 MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1320222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11913496 MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1320222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 11913496 MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1320222 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 11913496 MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2 gene DOID:1059 intellectual disability ISO RGD:1320222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11913496 MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2 gene DOID:630 genetic disease ISO RGD:1320222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913512 ATE1 arginyltransferase 1 gene DOID:2340 craniosynostosis ISO RGD:1319626 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 11913512 ATE1 arginyltransferase 1 gene DOID:630 genetic disease ISO RGD:1319626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913551 NFATC2IP nuclear factor of activated T cells 2 interacting protein gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1349771 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 11913551 NFATC2IP nuclear factor of activated T cells 2 interacting protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1349771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 11913551 NFATC2IP nuclear factor of activated T cells 2 interacting protein gene DOID:5419 schizophrenia ISO RGD:1349771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11913551 NFATC2IP nuclear factor of activated T cells 2 interacting protein gene DOID:630 genetic disease ISO RGD:1349771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913551 NFATC2IP nuclear factor of activated T cells 2 interacting protein gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1349771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 11913553 GIMAP5 GTPase, IMAP family member 5 gene DOID:10762 portal hypertension ISO RGD:1349853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Portal hypertension PMID:29382851|PMID:33956074 11913553 GIMAP5 GTPase, IMAP family member 5 gene DOID:2843 long QT syndrome ISO RGD:1349853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 11913553 GIMAP5 GTPase, IMAP family member 5 gene DOID:614 lymphopenia ISO RGD:628871 D RGD:9068941 20200609 RGD DNA:frameshift deletion PMID:12097339|REF_RGD_ID:619544 11913553 GIMAP5 GTPase, IMAP family member 5 gene DOID:630 genetic disease ISO RGD:1349853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913553 GIMAP5 GTPase, IMAP family member 5 gene DOID:9004499 Noncirrhotic Portal Hypertension 2 ISO RGD:1349853 D RGD:7240710 20210818 OMIM 11913553 GIMAP5 GTPase, IMAP family member 5 gene DOID:9004499 Noncirrhotic Portal Hypertension 2 ISO RGD:1349853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Portal hypertension, noncirrhotic, 2 PMID:29382851|PMID:33956074 11913553 GIMAP5 GTPase, IMAP family member 5 gene DOID:9744 type 1 diabetes mellitus ISO RGD:628871 D RGD:9068941 20200609 RGD PMID:12031988|REF_RGD_ID:633092 11913553 GIMAP5 GTPase, IMAP family member 5 gene DOID:9744 type 1 diabetes mellitus ISO RGD:628871 D RGD:9068941 20200609 RGD DNA:frameshift deletion PMID:12097339|REF_RGD_ID:619544 11913567 TAFA3 TAFA chemokine like family member 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1617223 D RGD:9068941 20220825 MouseDO 11913567 TAFA3 TAFA chemokine like family member 3 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1354085 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 11913567 TAFA3 TAFA chemokine like family member 3 gene DOID:13938 amenorrhea ISO RGD:1354085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11913579 PLA2G4E phospholipase A2 group IVE gene DOID:2717 Bloom syndrome ISO RGD:1606471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11913579 PLA2G4E phospholipase A2 group IVE gene DOID:630 genetic disease ISO RGD:1606471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913579 PLA2G4E phospholipase A2 group IVE gene DOID:9256 colorectal cancer ISO RGD:1606471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11913602 NPHP3 nephrocystin 3 gene DOID:0050777 Joubert syndrome ISO RGD:1342817 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:18371931|PMID:19303681|PMID:23559409|PMID:25741868|PMID:26184788|PMID:28492532|PMID:28921755|PMID:32040628|PMID:32173348|PMID:33323469|PMID:34031707 11913602 NPHP3 nephrocystin 3 gene DOID:0050777 Joubert syndrome ISO RGD:1342817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:18371931|PMID:19303681|PMID:23559409|PMID:25741868|PMID:26184788|PMID:28492532|PMID:28921755|PMID:31131822|PMID:32040628|PMID:32173348|PMID:33323469|PMID:34031707 11913602 NPHP3 nephrocystin 3 gene DOID:0050778 Meckel syndrome ISO RGD:1342817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25741868|PMID:28492532 11913602 NPHP3 nephrocystin 3 gene DOID:0070121 Meckel syndrome 7 ISO RGD:1342817 D RGD:7240710 20180130 OMIM 11913602 NPHP3 nephrocystin 3 gene DOID:0070121 Meckel syndrome 7 ISO RGD:1342817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia | ClinVar Annotator: match by term: Meckel syndrome type 7 PMID:12872122|PMID:17576681|PMID:17855640|PMID:18371931|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28921755|PMID:28973083|PMID:30002499|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098 11913602 NPHP3 nephrocystin 3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1342817 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868|PMID:26184788|PMID:28492532 11913602 NPHP3 nephrocystin 3 gene DOID:0080322 polycystic kidney disease ISO RGD:1342817 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:18371931|PMID:20007846|PMID:23559409|PMID:25741868|PMID:26673778|PMID:27894351|PMID:28492532|PMID:28921755|PMID:28973083|PMID:30002499|PMID:31980526|PMID:32055034|PMID:32552793|PMID:33532864 11913602 NPHP3 nephrocystin 3 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1342817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12089381 11913602 NPHP3 nephrocystin 3 gene DOID:0111112 nephronophthisis 1 ISO RGD:1342817 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18371931|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28973083|PMID:31980526|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098 11913602 NPHP3 nephrocystin 3 gene DOID:0111112 nephronophthisis 1 ISO RGD:1342817 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis PMID:12872122|PMID:17576681|PMID:17855640|PMID:18371931|PMID:19303681|PMID:20007846|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28921755|PMID:28973083|PMID:31980526|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098 11913602 NPHP3 nephrocystin 3 gene DOID:0111112 nephronophthisis 1 ISO RGD:1342817 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis PMID:12872122|PMID:17576681|PMID:17855640|PMID:18371931|PMID:19303681|PMID:20007846|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28921755|PMID:28973083|PMID:30002499|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098 11913602 NPHP3 nephrocystin 3 gene DOID:0111112 nephronophthisis 1 ISO RGD:1342817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis PMID:12872122|PMID:17576681|PMID:17855640|PMID:18371931|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28921755|PMID:28973083|PMID:30002499|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098 11913602 NPHP3 nephrocystin 3 gene DOID:0111114 nephronophthisis 3 ISO RGD:1342817 D RGD:7240710 20180130 OMIM 11913602 NPHP3 nephrocystin 3 gene DOID:0111114 nephronophthisis 3 ISO RGD:1342817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adolescent nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 3 PMID:12872122|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27491411|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28921755|PMID:28973083|PMID:29801666|PMID:30002499|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32502767|PMID:32552793|PMID:33323469|PMID:33532864|PMID:34212438|PMID:9536098 11913602 NPHP3 nephrocystin 3 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1342817 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:25741868|PMID:28492532 11913602 NPHP3 nephrocystin 3 gene DOID:10763 hypertension ISO RGD:1342817 D RGD:9068941 20230107 RGD associated with nephronophthisis; PMID:19177160|REF_RGD_ID:155791686 11913602 NPHP3 nephrocystin 3 gene DOID:12215 oligohydramnios ISO RGD:1342817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: anhydramnios PMID:25741868|PMID:35005812 11913602 NPHP3 nephrocystin 3 gene DOID:12712 nephronophthisis ISO RGD:1342817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:23686967|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28973083|PMID:28991257|PMID:29801666|PMID:30002499|PMID:33532864|PMID:9536098 11913602 NPHP3 nephrocystin 3 gene DOID:12712 nephronophthisis ISO RGD:1342817 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28973083|PMID:28991257|PMID:31980526|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098 11913602 NPHP3 nephrocystin 3 gene DOID:12712 nephronophthisis ISO RGD:1342817 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28921755|PMID:28973083|PMID:28991257|PMID:31980526|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098 11913602 NPHP3 nephrocystin 3 gene DOID:12712 nephronophthisis ISO RGD:1342817 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28921755|PMID:28973083|PMID:28991257|PMID:31980526|PMID:32055034|PMID:32173348|PMID:32552793|PMID:33323469|PMID:33532864|PMID:34031707|PMID:9536098 11913602 NPHP3 nephrocystin 3 gene DOID:12712 nephronophthisis ISO RGD:1342817 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28921755|PMID:28973083|PMID:28991257|PMID:30002499|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32173348|PMID:32552793|PMID:33323469|PMID:33532864|PMID:34031707|PMID:9536098 11913602 NPHP3 nephrocystin 3 gene DOID:12712 nephronophthisis ISO RGD:1342817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:23686967|PMID:24033266|PMID:24776604|PMID:25356970|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27491411|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28891274|PMID:28921755|PMID:28973083|PMID:29801666|PMID:30002499|PMID:31131822|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32173348|PMID:32502767|PMID:32552793|PMID:33323469|PMID:33532864|PMID:34013113|PMID:34031707|PMID:34212438|PMID:9536098 11913602 NPHP3 nephrocystin 3 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1342817 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:25741868|PMID:28492532 11913602 NPHP3 nephrocystin 3 gene DOID:14791 Leber congenital amaurosis ISO RGD:1342817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 11913602 NPHP3 nephrocystin 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1342817 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532 11913602 NPHP3 nephrocystin 3 gene DOID:2975 cystic kidney disease ISO RGD:1556941 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.I614S (mouse) PMID:18371931|REF_RGD_ID:11352488 11913602 NPHP3 nephrocystin 3 gene DOID:557 kidney disease ISO RGD:1342817 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:17855640|PMID:24033266|PMID:25741868|PMID:28492532 11913602 NPHP3 nephrocystin 3 gene DOID:630 genetic disease ISO RGD:1342817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356970|PMID:25741868|PMID:28492532 11913602 NPHP3 nephrocystin 3 gene DOID:758 situs inversus ISO RGD:1556941 D RGD:9068941 20200609 RGD PMID:18371931|REF_RGD_ID:11352488 11913602 NPHP3 nephrocystin 3 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1556941 D RGD:9068941 20220825 MouseDO 11913602 NPHP3 nephrocystin 3 gene DOID:9001991 Renal-Hepatic-Pancreatic Dysplasia 1 ISO RGD:1342817 D RGD:7240710 20180130 OMIM 11913602 NPHP3 nephrocystin 3 gene DOID:9001991 Renal-Hepatic-Pancreatic Dysplasia 1 ISO RGD:1342817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1 PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28921755|PMID:28973083|PMID:30002499|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32173348|PMID:32552793|PMID:33323469|PMID:33532864|PMID:34031707|PMID:34212438|PMID:8874114|PMID:9536098 11913602 NPHP3 nephrocystin 3 gene DOID:9006205 Animal Disease Models ISO RGD:1342817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12089381 11913602 NPHP3 nephrocystin 3 gene DOID:9007653 Multiple Abnormalities ISO RGD:1342817 D RGD:9068941 20200609 RGD DNA:missense mutation, nonsense mutations, splice-site mutations:multiple PMID:18371931|REF_RGD_ID:11352488 11913602 NPHP3 nephrocystin 3 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1342817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 11913602 NPHP3 nephrocystin 3 gene DOID:9270 alkaptonuria ISO RGD:1342817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11913639 GDF3 growth differentiation factor 3 gene DOID:0060249 scoliosis ISO RGD:1345464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:19864492|PMID:25741868|PMID:28492532 11913639 GDF3 growth differentiation factor 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1345464 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11913639 GDF3 growth differentiation factor 3 gene DOID:0060838 isolated microphthalmia 7 ISO RGD:1345464 D RGD:7240710 20180130 OMIM 11913639 GDF3 growth differentiation factor 3 gene DOID:0060838 isolated microphthalmia 7 ISO RGD:1345464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 7 PMID:19864492|PMID:28492532 11913639 GDF3 growth differentiation factor 3 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1345464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11913639 GDF3 growth differentiation factor 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1345464 D RGD:7240710 20180130 OMIM 11913639 GDF3 growth differentiation factor 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1345464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:19864492|PMID:25741868|PMID:28492532|PMID:29735971 11913639 GDF3 growth differentiation factor 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1345464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11913639 GDF3 growth differentiation factor 3 gene DOID:0111621 Temtamy syndrome ISO RGD:1345464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11913639 GDF3 growth differentiation factor 3 gene DOID:630 genetic disease ISO RGD:1345464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913639 GDF3 growth differentiation factor 3 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1345464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16168501 11913639 GDF3 growth differentiation factor 3 gene DOID:9001685 Isolated Microphthalmia with Coloboma 6 ISO RGD:1345464 D RGD:7240710 20180130 OMIM 11913639 GDF3 growth differentiation factor 3 gene DOID:9001685 Isolated Microphthalmia with Coloboma 6 ISO RGD:1345464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6 PMID:19864492|PMID:24281366|PMID:25741868|PMID:28492532 11913639 GDF3 growth differentiation factor 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1345464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11913650 UVRAG UV radiation resistance associated gene DOID:10283 prostate cancer ISO RGD:1317170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11913650 UVRAG UV radiation resistance associated gene DOID:1059 intellectual disability ISO RGD:1317170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11913650 UVRAG UV radiation resistance associated gene DOID:630 genetic disease ISO RGD:1317170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913669 PPP1R7 protein phosphatase 1 regulatory subunit 7 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1317789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11913669 PPP1R7 protein phosphatase 1 regulatory subunit 7 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1317789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11913669 PPP1R7 protein phosphatase 1 regulatory subunit 7 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1317789 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11913669 PPP1R7 protein phosphatase 1 regulatory subunit 7 gene DOID:1059 intellectual disability ISO RGD:1317789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11913669 PPP1R7 protein phosphatase 1 regulatory subunit 7 gene DOID:630 genetic disease ISO RGD:1317789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913669 PPP1R7 protein phosphatase 1 regulatory subunit 7 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1317789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11913690 RASSF3 Ras association domain family member 3 gene DOID:630 genetic disease ISO RGD:1322918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913690 RASSF3 Ras association domain family member 3 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1322918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11913701 YY1 YY1 transcription factor gene DOID:1059 intellectual disability ISO RGD:736235 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11913701 YY1 YY1 transcription factor gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:11500 D RGD:9068941 20200609 RGD PMID:12754214|REF_RGD_ID:1580831 11913701 YY1 YY1 transcription factor gene DOID:14566 disease of cellular proliferation ISO RGD:736235 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22467534 11913701 YY1 YY1 transcription factor gene DOID:4769 pleuropulmonary blastoma ISO RGD:11500 D RGD:9068941 20220825 MouseDO OMIM:601200 11913701 YY1 YY1 transcription factor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:736235 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11913701 YY1 YY1 transcription factor gene DOID:6000 congestive heart failure ISO RGD:736235 D RGD:9068941 20200609 RGD PMID:12754214|REF_RGD_ID:1580831 11913701 YY1 YY1 transcription factor gene DOID:630 genetic disease ISO RGD:736235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28575647 11913701 YY1 YY1 transcription factor gene DOID:9000918 Disease Progression ISO RGD:736235 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21792014 11913701 YY1 YY1 transcription factor gene DOID:9001966 GABRIELE-DE VRIES SYNDROME ISO RGD:736235 D RGD:7240710 20190315 OMIM 11913701 YY1 YY1 transcription factor gene DOID:9001966 GABRIELE-DE VRIES SYNDROME ISO RGD:736235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gabriele de Vries syndrome PMID:21076407|PMID:25741868|PMID:28575647 11913701 YY1 YY1 transcription factor gene DOID:9002165 Diabetic Nephropathies ISO RGD:736235 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35445903 11913701 YY1 YY1 transcription factor gene DOID:9002514 Neointima treatment ISO RGD:3982 D RGD:9068941 20200609 RGD PMID:21030713|REF_RGD_ID:9588268 11913701 YY1 YY1 transcription factor gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:736235 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21792014 11913701 YY1 YY1 transcription factor gene DOID:9003936 Cardiomegaly ISO RGD:3982 D RGD:9068941 20200609 RGD PMID:15567155|REF_RGD_ID:1580832 11913701 YY1 YY1 transcription factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736235 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11913701 YY1 YY1 transcription factor gene DOID:9538 multiple myeloma ISO RGD:736235 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038059 11913701 YY1 YY1 transcription factor gene DOID:9744 type 1 diabetes mellitus ISO RGD:3982 D RGD:9068941 20200609 RGD DNA:SNPs:intron PMID:15234341|REF_RGD_ID:9588271 11913701 YY1 YY1 transcription factor gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:3982 D RGD:9068941 20200609 RGD PMID:15619288|REF_RGD_ID:9588274 11913711 SLC35G1 solute carrier family 35 member G1 gene DOID:10283 prostate cancer ISO RGD:1354059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11913711 SLC35G1 solute carrier family 35 member G1 gene DOID:630 genetic disease ISO RGD:1354059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913717 FAM210B family with sequence similarity 210 member B gene DOID:630 genetic disease ISO RGD:1322807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913728 SLC16A11 solute carrier family 16 member 11 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1322416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11913728 SLC16A11 solute carrier family 16 member 11 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1322416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 11913728 SLC16A11 solute carrier family 16 member 11 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1322416 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11913728 SLC16A11 solute carrier family 16 member 11 gene DOID:12177 common variable immunodeficiency ISO RGD:1322416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11913728 SLC16A11 solute carrier family 16 member 11 gene DOID:2729 dyskeratosis congenita ISO RGD:1322416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11913728 SLC16A11 solute carrier family 16 member 11 gene DOID:630 genetic disease ISO RGD:1322416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913736 PPP2R2A protein phosphatase 2 regulatory subunit Balpha gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733714 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11913736 PPP2R2A protein phosphatase 2 regulatory subunit Balpha gene DOID:630 genetic disease ISO RGD:733714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913736 PPP2R2A protein phosphatase 2 regulatory subunit Balpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:733714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 11913736 PPP2R2A protein phosphatase 2 regulatory subunit Balpha gene DOID:9002884 Emphysema ISO RGD:733714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22223484 11913736 PPP2R2A protein phosphatase 2 regulatory subunit Balpha gene DOID:9003882 Chromosomal Instability ISO RGD:733714 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25772433 11913736 PPP2R2A protein phosphatase 2 regulatory subunit Balpha gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:733714 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25772433 11913754 LOC100992458 olfactory receptor 10A7 gene DOID:630 genetic disease ISO RGD:1346847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913757 CDKN3 cyclin dependent kinase inhibitor 3 gene DOID:0080600 COVID-19 ISO RGD:1317172 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11913757 CDKN3 cyclin dependent kinase inhibitor 3 gene DOID:0090043 dystonia 5 ISO RGD:1317172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia 5 PMID:17111153|PMID:19332422|PMID:19491146|PMID:25557619|PMID:28492532|PMID:9667588 11913757 CDKN3 cyclin dependent kinase inhibitor 3 gene DOID:0111805 syndromic microphthalmia 6 ISO RGD:1317172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies PMID:18252212|PMID:21340693|PMID:28492532 11913757 CDKN3 cyclin dependent kinase inhibitor 3 gene DOID:630 genetic disease ISO RGD:1317172 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913757 CDKN3 cyclin dependent kinase inhibitor 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1317172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11913757 CDKN3 cyclin dependent kinase inhibitor 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1317172 D RGD:9068941 20200609 RGD associated with alcoholism; protein:increased expression:liver PMID:23292002|REF_RGD_ID:15090802 11913757 CDKN3 cyclin dependent kinase inhibitor 3 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1317172 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:22390936|REF_RGD_ID:15090800 11913757 CDKN3 cyclin dependent kinase inhibitor 3 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1317172 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:27314282|REF_RGD_ID:15090801 11913757 CDKN3 cyclin dependent kinase inhibitor 3 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1317172 D RGD:9068941 20200609 RGD PMID:23292002|REF_RGD_ID:15090802 11913757 CDKN3 cyclin dependent kinase inhibitor 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11913772 TACC3 transforming acidic coiled-coil containing protein 3 gene DOID:11054 urinary bladder cancer ISO RGD:1353438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121792 11913772 TACC3 transforming acidic coiled-coil containing protein 3 gene DOID:1856 cherubism ISO RGD:1353438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11913772 TACC3 transforming acidic coiled-coil containing protein 3 gene DOID:2671 transitional cell carcinoma ISO RGD:1353438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121792 11913772 TACC3 transforming acidic coiled-coil containing protein 3 gene DOID:2871 endometrial carcinoma ISO RGD:1353438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 11913772 TACC3 transforming acidic coiled-coil containing protein 3 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1353438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11913772 TACC3 transforming acidic coiled-coil containing protein 3 gene DOID:630 genetic disease ISO RGD:1353438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913772 TACC3 transforming acidic coiled-coil containing protein 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1353438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11913798 PFKL phosphofructokinase, liver type gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:731398 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 11913798 PFKL phosphofructokinase, liver type gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:731398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11913798 PFKL phosphofructokinase, liver type gene DOID:0110266 cataract 9 multiple types ISO RGD:731398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11913798 PFKL phosphofructokinase, liver type gene DOID:12849 autistic disorder ISO RGD:731398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11913798 PFKL phosphofructokinase, liver type gene DOID:630 genetic disease ISO RGD:731398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913798 PFKL phosphofructokinase, liver type gene DOID:891 progressive myoclonus epilepsy ISO RGD:731398 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11913798 PFKL phosphofructokinase, liver type gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11913798 PFKL phosphofructokinase, liver type gene DOID:9263 homocystinuria ISO RGD:731398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11913798 PFKL phosphofructokinase, liver type gene DOID:9562 primary ciliary dyskinesia ISO RGD:731398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11913824 FAM72A family with sequence similarity 72 member A gene DOID:0080600 COVID-19 ISO RGD:1626688 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11913824 FAM72A family with sequence similarity 72 member A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1626688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11913824 FAM72A family with sequence similarity 72 member A gene DOID:12849 autistic disorder ISO RGD:1626688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11913824 FAM72A family with sequence similarity 72 member A gene DOID:1540 parathyroid carcinoma ISO RGD:1626688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11913824 FAM72A family with sequence similarity 72 member A gene DOID:630 genetic disease ISO RGD:1626688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913824 FAM72A family with sequence similarity 72 member A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1626688 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11913824 FAM72A family with sequence similarity 72 member A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1626688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11913832 IQCF3 IQ motif containing F3 gene DOID:630 genetic disease ISO RGD:1353537 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913846 MXRA5 matrix remodeling associated 5 gene DOID:10283 prostate cancer ISO RGD:1344277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11913846 MXRA5 matrix remodeling associated 5 gene DOID:1184 nephrotic syndrome ISO RGD:1344277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:29127259 11913846 MXRA5 matrix remodeling associated 5 gene DOID:12849 autistic disorder ISO RGD:1344277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11913846 MXRA5 matrix remodeling associated 5 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1344277 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22696596 11913846 MXRA5 matrix remodeling associated 5 gene DOID:630 genetic disease ISO RGD:1344277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913846 MXRA5 matrix remodeling associated 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11913846 MXRA5 matrix remodeling associated 5 gene DOID:9007661 Dwarfism ISO RGD:1344277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11913862 GPR176 G protein-coupled receptor 176 gene DOID:2717 Bloom syndrome ISO RGD:737562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11913862 GPR176 G protein-coupled receptor 176 gene DOID:630 genetic disease ISO RGD:737562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913862 GPR176 G protein-coupled receptor 176 gene DOID:9256 colorectal cancer ISO RGD:737562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11913872 ZNF518B zinc finger protein 518B gene DOID:630 genetic disease ISO RGD:1604562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913884 MAMLD1 mastermind like domain containing 1 gene DOID:0050760 X-linked myopathy with excessive autophagy ISO RGD:1344424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 11913884 MAMLD1 mastermind like domain containing 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11913884 MAMLD1 mastermind like domain containing 1 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:1344424 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 11913884 MAMLD1 mastermind like domain containing 1 gene DOID:10283 prostate cancer ISO RGD:1344424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11913884 MAMLD1 mastermind like domain containing 1 gene DOID:10892 hypospadias ISO RGD:1344424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21559465 11913884 MAMLD1 mastermind like domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1344424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11913884 MAMLD1 mastermind like domain containing 1 gene DOID:1923 disorder of sexual development ISO RGD:1344424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 11913884 MAMLD1 mastermind like domain containing 1 gene DOID:630 genetic disease ISO RGD:1344424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913884 MAMLD1 mastermind like domain containing 1 gene DOID:9003647 Hypospadias 2, X-Linked ISO RGD:1344424 D RGD:7240710 20180130 OMIM 11913884 MAMLD1 mastermind like domain containing 1 gene DOID:9003647 Hypospadias 2, X-Linked ISO RGD:1344424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypospadias 2, X-linked PMID:17086185|PMID:20347055|PMID:25741868|PMID:28492532|PMID:32690052|PMID:33424767 11913970 PANO1 proapoptotic nucleolar protein 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:9588885 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11913974 SOBP sine oculis binding protein homolog gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1605982 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 11913974 SOBP sine oculis binding protein homolog gene DOID:630 genetic disease ISO RGD:1605982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913974 SOBP sine oculis binding protein homolog gene DOID:9004901 INTELLECTUAL DISABILITY, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS ISO RGD:1605982 D RGD:7240710 20180130 OMIM 11913974 SOBP sine oculis binding protein homolog gene DOID:9004901 INTELLECTUAL DISABILITY, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS ISO RGD:1605982 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, anterior maxillary protrusion, and strabismus PMID:17618476|PMID:18414213|PMID:21035105|PMID:25741868|PMID:28492532 11913985 BATF3 basic leucine zipper ATF-like transcription factor 3 gene DOID:1024 leprosy ISO RGD:1602111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25642632 11913985 BATF3 basic leucine zipper ATF-like transcription factor 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1602111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11913985 BATF3 basic leucine zipper ATF-like transcription factor 3 gene DOID:630 genetic disease ISO RGD:1602111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913985 BATF3 basic leucine zipper ATF-like transcription factor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11913992 OSBP oxysterol binding protein gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1317627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11913992 OSBP oxysterol binding protein gene DOID:1059 intellectual disability ISO RGD:1317627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11913992 OSBP oxysterol binding protein gene DOID:12206 dengue hemorrhagic fever ISO RGD:1317627 D RGD:9068941 20210129 RGD mRNA:increased expression:peripheral blood mononuclear cell PMID:28241052|REF_RGD_ID:41404654 11913992 OSBP oxysterol binding protein gene DOID:630 genetic disease ISO RGD:1317627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11913992 OSBP oxysterol binding protein gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1308069 D RGD:9068941 20210129 RGD protein:increased tyrosine phosphorylation:aorta PMID:18230613|REF_RGD_ID:2291921 11913992 OSBP oxysterol binding protein gene DOID:9005775 Perinatal Asphyxia ISO RGD:1308069 D RGD:9068941 20230302 RGD PMID:23625371|REF_RGD_ID:156431056 11913992 OSBP oxysterol binding protein gene DOID:9007661 Dwarfism ISO RGD:1317627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11913992 OSBP oxysterol binding protein gene DOID:9256 colorectal cancer ISO RGD:1317627 D RGD:9068941 20210129 RGD PMID:21999571|REF_RGD_ID:41404653 11914017 DHCR7 7-dehydrocholesterol reductase gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:731755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 11914017 DHCR7 7-dehydrocholesterol reductase gene DOID:0060318 acute promyelocytic leukemia ISO RGD:731755 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 11914017 DHCR7 7-dehydrocholesterol reductase gene DOID:0070297 primary microcephaly ISO RGD:731755 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:10677299|PMID:10995508|PMID:11078571|PMID:11175299|PMID:15521979|PMID:15670717|PMID:15805162|PMID:16497572|PMID:17965227|PMID:19390132|PMID:20301322|PMID:20556518|PMID:23293579|PMID:24033266|PMID:25741868|PMID:27415407|PMID:28166604|PMID:28250423|PMID:28492532|PMID:33223529|PMID:9634533|PMID:9653161 11914017 DHCR7 7-dehydrocholesterol reductase gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:731755 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11914017 DHCR7 7-dehydrocholesterol reductase gene DOID:1059 intellectual disability ISO RGD:731755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11914017 DHCR7 7-dehydrocholesterol reductase gene DOID:10907 microcephaly ISO RGD:731755 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital microcephaly | ClinVar Annotator: match by term: Microcephaly PMID:10602371|PMID:10677299|PMID:10814720|PMID:10995508|PMID:11078571|PMID:11175299|PMID:15521979|PMID:15670717|PMID:15805162|PMID:15952211|PMID:16044199|PMID:16207203|PMID:16497572|PMID:16983147|PMID:17441222|PMID:17965227|PMID:18006960|PMID:19390132|PMID:20301322|PMID:20556518|PMID:21696385|PMID:23042628|PMID:23293579|PMID:24033266|PMID:25040602|PMID:25741868|PMID:27415407|PMID:28166604|PMID:28250423|PMID:28492532|PMID:33223529|PMID:9634533|PMID:9653161 11914017 DHCR7 7-dehydrocholesterol reductase gene DOID:12849 autistic disorder ISO RGD:731755 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14659996 11914017 DHCR7 7-dehydrocholesterol reductase gene DOID:14692 Smith-Lemli-Opitz syndrome ISO RGD:731755 D RGD:7240710 20180130 OMIM 11914017 DHCR7 7-dehydrocholesterol reductase gene DOID:14692 Smith-Lemli-Opitz syndrome ISO RGD:731755 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome PMID:10405455|PMID:10602371|PMID:10677299|PMID:10710236|PMID:10807690|PMID:10814720|PMID:10896306|PMID:10995508|PMID:11001807|PMID:11078571|PMID:11111101|PMID:11161831|PMID:11175299|PMID:11186897|PMID:11241839|PMID:11298379|PMID:11427181|PMID:11453964|PMID:11471166|PMID:11562938|PMID:11745994|PMID:11767235|PMID:11857552|PMID:12070263|PMID:12270273|PMID:12794707|PMID:12818773|PMID:12914579|PMID:12949967|PMID:14556255|PMID:14981719|PMID:15013448|PMID:15286151|PMID:15464432|PMID:15521979|PMID:15670717|PMID:15776424|PMID:15805162|PMID:15877207|PMID:15896653|PMID:15952211|PMID:15954111|PMID:15979035|PMID:16044199|PMID:16181459|PMID:16199547|PMID:16207203|PMID:16392899|PMID:16435228|PMID:16497572|PMID:16761297|PMID:16906538|PMID:16983147|PMID:17237122|PMID:17441222|PMID:17497248|PMID:17576681|PMID:17965227|PMID:17974928|PMID:17994283|PMID:18006960|PMID:18076100|PMID:18249054|PMID:18285838|PMID:19365639|PMID:19390132|PMID:20014133|PMID:20052364|PMID:20104611|PMID:20301322|PMID:20556518|PMID:20635399|PMID:20694756|PMID:21696385|PMID:21706511|PMID:21777499|PMID:21990131|PMID:22211794|PMID:22226660|PMID:22382802|PMID:22391996|PMID:22438180|PMID:22929031|PMID:22975760|PMID:23042628|PMID:23293579|PMID:23603282|PMID:23790112|PMID:23918729|PMID:24033266|PMID:24500076|PMID:24813812|PMID:24824134|PMID:25040602|PMID:25108116|PMID:25307054|PMID:25405082|PMID:25533962|PMID:25734025|PMID:25741868|PMID:25807282|PMID:26350204|PMID:26467025|PMID:26539891|PMID:26887953|PMID:26969503|PMID:27401223|PMID:27415407|PMID:27513191|PMID:28166604|PMID:28250423|PMID:28349652|PMID:28397838|PMID:28492532|PMID:28503313|PMID:28972118|PMID:29300326|PMID:29368431|PMID:2945519|PMID:29455191|PMID:29907799|PMID:30925529|PMID:31178897|PMID:31395954|PMID:31840946|PMID:33204589|PMID:33223529|PMID:33270637|PMID:33890232|PMID:35305950|PMID:35795205|PMID:36600793|PMID:8259166|PMID:8737829|PMID:8989473|PMID:9024557|PMID:9536098|PMID:9634533|PMID:9653161|PMID:9683613|PMID:9714006|PMID:9714007 11914017 DHCR7 7-dehydrocholesterol reductase gene DOID:5082 liver cirrhosis ISO RGD:731755 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24381012 11914017 DHCR7 7-dehydrocholesterol reductase gene DOID:630 genetic disease ISO RGD:731755 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10405455|PMID:10677299|PMID:10807690|PMID:10814720|PMID:10896306|PMID:10995508|PMID:11078571|PMID:11111101|PMID:11161831|PMID:11175299|PMID:11186897|PMID:11241839|PMID:11298379|PMID:11427181|PMID:11471166|PMID:11562938|PMID:11745994|PMID:12070263|PMID:12270273|PMID:12794707|PMID:12818773|PMID:12914579|PMID:12949967|PMID:14556255|PMID:14981719|PMID:15013448|PMID:15286151|PMID:15464432|PMID:15521979|PMID:15670717|PMID:15776424|PMID:15805162|PMID:15877207|PMID:15896653|PMID:15952211|PMID:15954111|PMID:16044199|PMID:16181459|PMID:16207203|PMID:16392899|PMID:16497572|PMID:16761297|PMID:16906538|PMID:16983147|PMID:17237122|PMID:17441222|PMID:17497248|PMID:17576681|PMID:17965227|PMID:17974928|PMID:17994283|PMID:18076100|PMID:18249054|PMID:18285838|PMID:19365639|PMID:19390132|PMID:20014133|PMID:20052364|PMID:20104611|PMID:20301322|PMID:20556518|PMID:20635399|PMID:20694756|PMID:21777499|PMID:21990131|PMID:22211794|PMID:22226660|PMID:22382802|PMID:22391996|PMID:22438180|PMID:22929031|PMID:22975760|PMID:23042628|PMID:23293579|PMID:23603282|PMID:23918729|PMID:24033266|PMID:24500076|PMID:24813812|PMID:24824134|PMID:25040602|PMID:25108116|PMID:25307054|PMID:25405082|PMID:25734025|PMID:25741868|PMID:25807282|PMID:26350204|PMID:26467025|PMID:26969503|PMID:27401223|PMID:27415407|PMID:27513191|PMID:28166604|PMID:28250423|PMID:28349652|PMID:28492532|PMID:28503313|PMID:28972118|PMID:29300326|PMID:29368431|PMID:29455191|PMID:29907799|PMID:31178897|PMID:31395954|PMID:33223529|PMID:35305950|PMID:35795205|PMID:36600793|PMID:8259166|PMID:8737829|PMID:8989473|PMID:9024557|PMID:9536098|PMID:9634533|PMID:9653161|PMID:9683613|PMID:9714007 11914017 DHCR7 7-dehydrocholesterol reductase gene DOID:687 hepatoblastoma ISO RGD:731755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:12270273|PMID:15670717|PMID:16207203|PMID:16392899|PMID:23042628|PMID:24813812|PMID:25741868|PMID:27401223|PMID:28250423|PMID:28492532|PMID:29300326 11914017 DHCR7 7-dehydrocholesterol reductase gene DOID:9002112 Growth Deficiency and Mental Retardation with Facial Dysmorphism ISO RGD:731755 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Wiedemann-Steiner syndrome PMID:10677299|PMID:10896306|PMID:11175299|PMID:12270273|PMID:12818773|PMID:15464432|PMID:15521979|PMID:15776424|PMID:16983147|PMID:18249054|PMID:24500076|PMID:25040602|PMID:25741868|PMID:27513191|PMID:28492532 11914017 DHCR7 7-dehydrocholesterol reductase gene DOID:9002278 Metabolic Bone Diseases ISO RGD:731755 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24381012 11914017 DHCR7 7-dehydrocholesterol reductase gene DOID:9005603 Muscle Hypotonia ISO RGD:731756 D RGD:9068941 20200609 RGD PMID:11230174|REF_RGD_ID:734884 11914017 DHCR7 7-dehydrocholesterol reductase gene DOID:9006205 Animal Disease Models ISO RGD:731755 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29698737 11914017 DHCR7 7-dehydrocholesterol reductase gene DOID:9008086 Developmental Disabilities ISO RGD:731755 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:10677299|PMID:10807690|PMID:10814720|PMID:10995508|PMID:11161831|PMID:11175299|PMID:11241839|PMID:11427181|PMID:11562938|PMID:12794707|PMID:15286151|PMID:15464432|PMID:15776424|PMID:15805162|PMID:15952211|PMID:16761297|PMID:16906538|PMID:17576681|PMID:17965227|PMID:18285838|PMID:19365639|PMID:20301322|PMID:20635399|PMID:21777499|PMID:22211794|PMID:22226660|PMID:22438180|PMID:22975760|PMID:23042628|PMID:23293579|PMID:23918729|PMID:24033266|PMID:24824134|PMID:25108116|PMID:25741868|PMID:25807282|PMID:26467025|PMID:28166604|PMID:28492532|PMID:29455191|PMID:35305950|PMID:8259166|PMID:8737829|PMID:9024557|PMID:9536098|PMID:9653161|PMID:9683613 11914046 TRAK1 trafficking kinesin protein 1 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1604830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 11914046 TRAK1 trafficking kinesin protein 1 gene DOID:0112204 developmental and epileptic encephalopathy 68 ISO RGD:1604830 D RGD:7240710 20190315 OMIM 11914046 TRAK1 trafficking kinesin protein 1 gene DOID:0112204 developmental and epileptic encephalopathy 68 ISO RGD:1604830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 68 PMID:25741868|PMID:28364549|PMID:28492532|PMID:28940097|PMID:29846532 11914046 TRAK1 trafficking kinesin protein 1 gene DOID:13366 Stiff-Person syndrome ISO RGD:1317275 D RGD:9068941 20220825 MouseDO OMIM:184850 11914046 TRAK1 trafficking kinesin protein 1 gene DOID:5419 schizophrenia ISO RGD:1604830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 11914046 TRAK1 trafficking kinesin protein 1 gene DOID:630 genetic disease ISO RGD:1604830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11914087 ARL4D ADP ribosylation factor like GTPase 4D gene DOID:0080600 COVID-19 ISO RGD:1315741 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11914087 ARL4D ADP ribosylation factor like GTPase 4D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:19894111|PMID:23996866|PMID:24686251|PMID:28492532 11914087 ARL4D ADP ribosylation factor like GTPase 4D gene DOID:630 genetic disease ISO RGD:1315741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11914093 RELCH RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1316306 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11914093 RELCH RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1316306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 11914093 RELCH RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing gene DOID:630 genetic disease ISO RGD:1316306 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11914132 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:0050889 non-syndromic intellectual disability ISO RGD:731547 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Non-syndromic intellectual disability PMID:30504930|PMID:35675825 11914132 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:0060001 withdrawal disorder ISO RGD:731547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11404432|PMID:12511956 11914132 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:0060041 autism spectrum disorder ISO RGD:731547 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30504930|PMID:35675825 11914132 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:0060043 sexual health disorder ISO RGD:731547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19295509 11914132 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11914132 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:0081235 autosomal recessive intellectual developmental disorder 76 ISO RGD:731547 D RGD:7240710 20220720 OMIM 11914132 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:0081235 autosomal recessive intellectual developmental disorder 76 ISO RGD:731547 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 76 PMID:35675825 11914132 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:1059 intellectual disability ISO RGD:731547 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23033978|PMID:25363760|PMID:25741868|PMID:28628100|PMID:35675825 11914132 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:11832 visual epilepsy ISO RGD:621531 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:19666089|REF_RGD_ID:4107726 11914132 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:12849 autistic disorder ISO RGD:731547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11706102 11914132 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:13413 hepatic encephalopathy ISO RGD:621531 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus, synaptosome (rat) PMID:19450629|REF_RGD_ID:4108489 11914132 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:1824 status epilepticus ISO RGD:621531 D RGD:9068941 20200609 RGD PMID:25457025|REF_RGD_ID:13792697 11914132 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:1824 status epilepticus ISO RGD:621531 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus (rat) PMID:19914343|REF_RGD_ID:4107719 11914132 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:1826 epilepsy ISO RGD:621531 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:19154779|REF_RGD_ID:2326034 11914132 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:2560 morphine dependence ISO RGD:731547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11404432 11914132 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:4481 allergic rhinitis ISO RGD:731547 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:34624383 11914132 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:5418 schizoaffective disorder ISO RGD:735685 D RGD:9068941 20220825 MouseDO 11914132 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:630 genetic disease ISO RGD:731547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11914132 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:8927 learning disability ISO RGD:731547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16495937 11914132 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:621531 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortical neuron (rat) PMID:20398734|REF_RGD_ID:4107070 11914132 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9002362 Hyperkinesis ISO RGD:731547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18171924|PMID:19036973 11914132 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9003736 Central Nervous System Viral Diseases ISO RGD:621531 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:19660546|REF_RGD_ID:2325963 11914132 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9004009 Reperfusion Injury ISO RGD:621531 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus (rat) PMID:20408958|REF_RGD_ID:4107069 11914132 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9004042 Olfaction Disorders ISO RGD:731547 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:34624383 11914132 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731547 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28628100 11914132 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14684464|PMID:15764012|PMID:16495937|PMID:18430032|PMID:18486119 11914132 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9006024 Hypotension ISO RGD:731547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18639534 11914132 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11914132 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9007677 Autosomal Dominant Intellectual Developmental Disorder 67 ISO RGD:731547 D RGD:7240710 20220720 OMIM 11914132 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9007677 Autosomal Dominant Intellectual Developmental Disorder 67 ISO RGD:731547 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 67 PMID:23033978|PMID:25363760|PMID:25741868|PMID:28628100|PMID:30504930|PMID:35675825 11914132 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:621531 D RGD:9068941 20200609 RGD PMID:25457025|REF_RGD_ID:13792697 11914166 LOC100984469 olfactory receptor 52I2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1352778 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11914166 LOC100984469 olfactory receptor 52I2 gene DOID:630 genetic disease ISO RGD:1352778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11914170 PRG4 proteoglycan 4 gene DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome ISO RGD:1319063 D RGD:7240710 20180130 OMIM 11914170 PRG4 proteoglycan 4 gene DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome ISO RGD:1319063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome PMID:10545950|PMID:25741868|PMID:29397575|PMID:32860008 11914170 PRG4 proteoglycan 4 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1319063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 11914170 PRG4 proteoglycan 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1319063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11914170 PRG4 proteoglycan 4 gene DOID:1787 pericarditis ISO RGD:1319063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10545950 11914170 PRG4 proteoglycan 4 gene DOID:1787 pericarditis ISO RGD:1319063 D RGD:9068941 20200609 RGD PMID:16429407|REF_RGD_ID:1580712 11914170 PRG4 proteoglycan 4 gene DOID:630 genetic disease ISO RGD:1319063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11914170 PRG4 proteoglycan 4 gene DOID:9002221 Hyperplasia ISO RGD:1319063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10545950 11914170 PRG4 proteoglycan 4 gene DOID:9006836 Contracture ISO RGD:1319063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10545950 11914170 PRG4 proteoglycan 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11914187 DPPA2 developmental pluripotency associated 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1348790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11914187 DPPA2 developmental pluripotency associated 2 gene DOID:630 genetic disease ISO RGD:1348790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11914222 TBX6 T-box transcription factor 6 gene DOID:0060019 coronin-1A deficiency ISO RGD:1317068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:28492532 11914222 TBX6 T-box transcription factor 6 gene DOID:0060041 autism spectrum disorder ISO RGD:1317068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 11914222 TBX6 T-box transcription factor 6 gene DOID:0060249 scoliosis ISO RGD:1317068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25564734|PMID:25741868|PMID:28054739|PMID:28492532|PMID:31015262|PMID:31471994 11914222 TBX6 T-box transcription factor 6 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1317068 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 11914222 TBX6 T-box transcription factor 6 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1317068 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 11914222 TBX6 T-box transcription factor 6 gene DOID:0080205 CAKUT ISO RGD:1317068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30578417 11914222 TBX6 T-box transcription factor 6 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1317068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11914222 TBX6 T-box transcription factor 6 gene DOID:0112362 spondylocostal dysostosis 2 ISO RGD:1317068 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive PMID:20503311|PMID:23335591 11914222 TBX6 T-box transcription factor 6 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1317068 D RGD:7240710 20180130 OMIM 11914222 TBX6 T-box transcription factor 6 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1317068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:20503311|PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868|PMID:27861764|PMID:28054739|PMID:28492532|PMID:28990171|PMID:30636772|PMID:31015262|PMID:31471994 11914222 TBX6 T-box transcription factor 6 gene DOID:12849 autistic disorder ISO RGD:1317068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11914222 TBX6 T-box transcription factor 6 gene DOID:1882 atrial heart septal defect ISO RGD:1317068 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 11914222 TBX6 T-box transcription factor 6 gene DOID:5419 schizophrenia ISO RGD:1317068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11914222 TBX6 T-box transcription factor 6 gene DOID:630 genetic disease ISO RGD:1317068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28054739|PMID:28492532|PMID:30636772|PMID:31471994 11914222 TBX6 T-box transcription factor 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 11914222 TBX6 T-box transcription factor 6 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1317068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11914222 TBX6 T-box transcription factor 6 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1317068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 11914238 ANKRD13B ankyrin repeat domain 13B gene DOID:0111253 neurofibromatosis 1 ISO RGD:1606740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 11914238 ANKRD13B ankyrin repeat domain 13B gene DOID:630 genetic disease ISO RGD:1606740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11914262 ACVR1C activin A receptor type 1C gene DOID:0060041 autism spectrum disorder ISO RGD:734123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11914262 ACVR1C activin A receptor type 1C gene DOID:630 genetic disease ISO RGD:734123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11914276 LOC100972491 olfactory receptor 2AG2 gene DOID:630 genetic disease ISO RGD:1351300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11914281 LOC100973115 protein ILRUN gene DOID:0050553 JMP syndrome ISO RGD:1318473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11914281 LOC100973115 protein ILRUN gene DOID:2394 ovarian cancer disease_progression ISO RGD:1318473 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:ovary PMID:18567002|REF_RGD_ID:2298935 11914281 LOC100973115 protein ILRUN gene DOID:630 genetic disease ISO RGD:1318473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11914281 LOC100973115 protein ILRUN gene DOID:9002762 Ovarian Neoplasms ISO RGD:1318473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18567002 11914291 IGFBP5 insulin like growth factor binding protein 5 gene DOID:11054 urinary bladder cancer ISO RGD:732384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 11914291 IGFBP5 insulin like growth factor binding protein 5 gene DOID:3770 pulmonary fibrosis ISO RGD:732384 D RGD:9068941 20200609 RGD PMID:15681824|REF_RGD_ID:1626120 11914291 IGFBP5 insulin like growth factor binding protein 5 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:2876 D RGD:9068941 20200609 RGD PMID:19844724|REF_RGD_ID:10402761 11914291 IGFBP5 insulin like growth factor binding protein 5 gene DOID:630 genetic disease ISO RGD:732384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11914291 IGFBP5 insulin like growth factor binding protein 5 gene DOID:9000528 Coronary Disease ISO RGD:732384 D RGD:9068941 20200609 RGD PMID:15521962|REF_RGD_ID:1626121 11914291 IGFBP5 insulin like growth factor binding protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11914291 IGFBP5 insulin like growth factor binding protein 5 gene DOID:9004657 Weight Gain ISO RGD:732384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11914291 IGFBP5 insulin like growth factor binding protein 5 gene DOID:9005930 Endotoxemia ISO RGD:2876 D RGD:9068941 20200609 RGD PMID:12217886|REF_RGD_ID:625688 11914291 IGFBP5 insulin like growth factor binding protein 5 gene DOID:9008939 Breast Neoplasms ISO RGD:732384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20354179 11914299 SLC38A5 solute carrier family 38 member 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:730905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11914299 SLC38A5 solute carrier family 38 member 5 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:730905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 11914299 SLC38A5 solute carrier family 38 member 5 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:730905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11914299 SLC38A5 solute carrier family 38 member 5 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:730905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11914299 SLC38A5 solute carrier family 38 member 5 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:730905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11914299 SLC38A5 solute carrier family 38 member 5 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:730905 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 11914299 SLC38A5 solute carrier family 38 member 5 gene DOID:12849 autistic disorder ISO RGD:730905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11914299 SLC38A5 solute carrier family 38 member 5 gene DOID:630 genetic disease ISO RGD:730905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11914299 SLC38A5 solute carrier family 38 member 5 gene DOID:9005930 Endotoxemia ISO RGD:620702 D RGD:9068941 20200609 RGD PMID:20036385|REF_RGD_ID:9999227 11914339 SLC46A1 solute carrier family 46 member 1 gene DOID:0111678 hereditary folate malabsorption ISO RGD:1606750 D RGD:7240710 20180130 OMIM 11914339 SLC46A1 solute carrier family 46 member 1 gene DOID:0111678 hereditary folate malabsorption ISO RGD:1606750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital defect of folate absorption PMID:11804211|PMID:11807405|PMID:17129779|PMID:17446347|PMID:18559978|PMID:19176287|PMID:19740703|PMID:20301716|PMID:20686069|PMID:20795774|PMID:21333572|PMID:21489556|PMID:22345511|PMID:22843796|PMID:25741868|PMID:27664775|PMID:28492532|PMID:3987728 11914339 SLC46A1 solute carrier family 46 member 1 gene DOID:1059 intellectual disability ISO RGD:1606750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11914339 SLC46A1 solute carrier family 46 member 1 gene DOID:12450 pancytopenia ISO RGD:1606750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21346251 11914339 SLC46A1 solute carrier family 46 member 1 gene DOID:2355 anemia ISO RGD:1606750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21346251 11914339 SLC46A1 solute carrier family 46 member 1 gene DOID:630 genetic disease ISO RGD:1606750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11807405|PMID:17129779|PMID:19740703|PMID:20301716|PMID:21489556|PMID:25741868|PMID:27664775|PMID:28492532 11914339 SLC46A1 solute carrier family 46 member 1 gene DOID:784 chronic kidney disease ISO RGD:1309472 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver, heart, jejunum (rat) PMID:21149507|REF_RGD_ID:7327184 11914339 SLC46A1 solute carrier family 46 member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11914339 SLC46A1 solute carrier family 46 member 1 gene DOID:9002984 Malabsorption Syndromes ISO RGD:1606750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17129779|PMID:17446347 11914339 SLC46A1 solute carrier family 46 member 1 gene DOID:9279 hyperhomocysteinemia ISO RGD:1606750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19204075 11914348 ZNF491 zinc finger protein 491 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1349638 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11914348 ZNF491 zinc finger protein 491 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1349638 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11914348 ZNF491 zinc finger protein 491 gene DOID:0111254 glutaric acidemia I ISO RGD:1349638 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11914348 ZNF491 zinc finger protein 491 gene DOID:3413 alpha-mannosidosis ISO RGD:1349638 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11914348 ZNF491 zinc finger protein 491 gene DOID:630 genetic disease ISO RGD:1349638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11914379 SPAG9 sperm associated antigen 9 gene DOID:1380 endometrial cancer ISO RGD:1322667 D RGD:9068941 20200613 RGD protein:increased expression:serum: PMID:24460345|REF_RGD_ID:30296659 11914379 SPAG9 sperm associated antigen 9 gene DOID:5082 liver cirrhosis ISO RGD:1322667 D RGD:9068941 20200613 RGD associated with Human Viral Hepatitis PMID:29344208|REF_RGD_ID:30296654 11914379 SPAG9 sperm associated antigen 9 gene DOID:630 genetic disease ISO RGD:1322667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11914379 SPAG9 sperm associated antigen 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1322667 D RGD:9068941 20200613 RGD associated with Human Viral Hepatitis PMID:29344208|REF_RGD_ID:30296654 11914379 SPAG9 sperm associated antigen 9 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1322667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11914437 RIOK3 RIO kinase 3 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1321961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 11914437 RIOK3 RIO kinase 3 gene DOID:1059 intellectual disability ISO RGD:1321961 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11914437 RIOK3 RIO kinase 3 gene DOID:630 genetic disease ISO RGD:1321961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11914460 CPA4 carboxypeptidase A4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11914460 CPA4 carboxypeptidase A4 gene DOID:630 genetic disease ISO RGD:1345742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11914480 LYPD3 LY6/PLAUR domain containing 3 gene DOID:5419 schizophrenia ISO RGD:70834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11914480 LYPD3 LY6/PLAUR domain containing 3 gene DOID:630 genetic disease ISO RGD:70834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11914489 PYM1 PYM homolog 1, exon junction complex associated factor gene DOID:630 genetic disease ISO RGD:1601845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11914509 SARDH sarcosine dehydrogenase gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:735740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 11914509 SARDH sarcosine dehydrogenase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:735740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11914509 SARDH sarcosine dehydrogenase gene DOID:0080324 tuberous sclerosis 1 ISO RGD:735740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11914509 SARDH sarcosine dehydrogenase gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:735740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11914509 SARDH sarcosine dehydrogenase gene DOID:0081097 Rafiq syndrome ISO RGD:735740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11914509 SARDH sarcosine dehydrogenase gene DOID:0112307 sarcosinemia ISO RGD:735740 D RGD:7240710 20180130 OMIM 11914509 SARDH sarcosine dehydrogenase gene DOID:0112307 sarcosinemia ISO RGD:735740 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: SARCOSINE DEHYDROGENASE COMPLEX DEFICIENCY | ClinVar Annotator: match by term: Sarcosin dehydrogenase complex, deficiency of PMID:22825317|PMID:25741868|PMID:28492532 11914509 SARDH sarcosine dehydrogenase gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:735740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11914509 SARDH sarcosine dehydrogenase gene DOID:3652 Leigh disease ISO RGD:735740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11914509 SARDH sarcosine dehydrogenase gene DOID:630 genetic disease ISO RGD:735740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11914509 SARDH sarcosine dehydrogenase gene DOID:684 hepatocellular carcinoma severity ISO RGD:735740 D RGD:9068941 20220616 RGD mRNA:altered expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 11914509 SARDH sarcosine dehydrogenase gene DOID:9002669 Hypoxia ISO RGD:735740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 11914541 SP2 Sp2 transcription factor gene DOID:630 genetic disease ISO RGD:1347414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11914577 CLK2 CDC like kinase 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1343354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11914577 CLK2 CDC like kinase 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1343354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11914577 CLK2 CDC like kinase 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1343354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11914577 CLK2 CDC like kinase 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1343354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11914577 CLK2 CDC like kinase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1343354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11914577 CLK2 CDC like kinase 2 gene DOID:5812 MHC class II deficiency ISO RGD:1343354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11914577 CLK2 CDC like kinase 2 gene DOID:630 genetic disease ISO RGD:1343354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11914577 CLK2 CDC like kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11914606 TMEM208 transmembrane protein 208 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11914606 TMEM208 transmembrane protein 208 gene DOID:630 genetic disease ISO RGD:1605689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11914616 TEX52 testis expressed 52 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:13208664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11914623 MRPL27 mitochondrial ribosomal protein L27 gene DOID:630 genetic disease ISO RGD:1319233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11914636 LSM8 LSM8 homolog, U6 small nuclear RNA associated gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11914644 KCNK4 potassium two pore domain channel subfamily K member 4 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:733987 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11914644 KCNK4 potassium two pore domain channel subfamily K member 4 gene DOID:1059 intellectual disability ISO RGD:733987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11914644 KCNK4 potassium two pore domain channel subfamily K member 4 gene DOID:1826 epilepsy ISO RGD:733987 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:30290154 11914644 KCNK4 potassium two pore domain channel subfamily K member 4 gene DOID:3070 high grade glioma ISO RGD:733987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11914644 KCNK4 potassium two pore domain channel subfamily K member 4 gene DOID:630 genetic disease ISO RGD:733987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11914644 KCNK4 potassium two pore domain channel subfamily K member 4 gene DOID:9006075 Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome ISO RGD:733987 D RGD:7240710 20190424 OMIM 11914644 KCNK4 potassium two pore domain channel subfamily K member 4 gene DOID:9006075 Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome ISO RGD:733987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome PMID:25741868|PMID:28492532|PMID:30290154 11914654 SCAI suppressor of cancer cell invasion gene DOID:630 genetic disease ISO RGD:1316447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11914691 GRIA4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:0060041 autism spectrum disorder ISO RGD:733821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11914691 GRIA4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:1059 intellectual disability ISO RGD:733821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:15970596|PMID:19946266|PMID:20007474|PMID:25741868|PMID:25864721|PMID:29220673 11914691 GRIA4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:11830 myopia ISO RGD:733821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 11914691 GRIA4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:12704 ataxia telangiectasia ISO RGD:733821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11914691 GRIA4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:303 substance-related disorder ISO RGD:733821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11914691 GRIA4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:5419 schizophrenia susceptibility ISO RGD:733821 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:exon, introns: A>G (rs609239), A>G (rs641574), A>G (rs659840) (human) PMID:12497607|REF_RGD_ID:1358642 11914691 GRIA4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:630 genetic disease ISO RGD:733821 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15970596|PMID:19946266|PMID:20007474|PMID:25741868|PMID:25864721|PMID:28492532|PMID:29220673 11914691 GRIA4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11914691 GRIA4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:9008086 Developmental Disabilities ISO RGD:733821 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11914691 GRIA4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:9009124 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES ISO RGD:733821 D RGD:7240710 20190315 OMIM 11914691 GRIA4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:9009124 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES ISO RGD:733821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without seizures and gait abnormalities PMID:15970596|PMID:19946266|PMID:20007474|PMID:25741868|PMID:25864721|PMID:29220673 11914691 GRIA4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:9970 obesity ISO RGD:733821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity 11914756 FAM210A family with sequence similarity 210 member A gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1352066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11914756 FAM210A family with sequence similarity 210 member A gene DOID:1059 intellectual disability ISO RGD:1352066 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11914756 FAM210A family with sequence similarity 210 member A gene DOID:630 genetic disease ISO RGD:1352066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11914756 FAM210A family with sequence similarity 210 member A gene DOID:9002589 Bone Fractures ISO RGD:1352066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22504420 11914769 NXPH4 neurexophilin 4 gene DOID:630 genetic disease ISO RGD:736634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11914769 NXPH4 neurexophilin 4 gene DOID:6846 familial melanoma ISO RGD:736634 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 11914775 IST1 IST1 factor associated with ESCRT-III gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11914775 IST1 IST1 factor associated with ESCRT-III gene DOID:630 genetic disease ISO RGD:1605407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11914799 ARHGAP25 Rho GTPase activating protein 25 gene DOID:630 genetic disease ISO RGD:1351716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11914822 SUB1 SUB1 regulator of transcription gene DOID:630 genetic disease ISO RGD:1605698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11914822 SUB1 SUB1 regulator of transcription gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11914831 LOC100991953 ATPase PAAT gene DOID:2340 craniosynostosis ISO RGD:1312790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 11914831 LOC100991953 ATPase PAAT gene DOID:630 genetic disease ISO RGD:1312790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11914841 PNLDC1 PARN like ribonuclease domain containing exonuclease 1 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1318591 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 11914841 PNLDC1 PARN like ribonuclease domain containing exonuclease 1 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1318591 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 11914841 PNLDC1 PARN like ribonuclease domain containing exonuclease 1 gene DOID:0112338 spermatogenic failure 57 ISO RGD:1318591 D RGD:7240710 20210922 OMIM 11914841 PNLDC1 PARN like ribonuclease domain containing exonuclease 1 gene DOID:0112338 spermatogenic failure 57 ISO RGD:1318591 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 57 PMID:25741868|PMID:34347949|PMID:35476664 11914841 PNLDC1 PARN like ribonuclease domain containing exonuclease 1 gene DOID:14228 oligospermia ISO RGD:1318591 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Oligospermia PMID:25741868 11914841 PNLDC1 PARN like ribonuclease domain containing exonuclease 1 gene DOID:630 genetic disease ISO RGD:1318591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11914876 PRICKLE1 prickle planar cell polarity protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1618248 D RGD:9068941 20220825 MouseDO 11914876 PRICKLE1 prickle planar cell polarity protein 1 gene DOID:0060764 autosomal recessive Robinow syndrome ISO RGD:1618248 D RGD:9068941 20220825 MouseDO OMIM:268310 11914876 PRICKLE1 prickle planar cell polarity protein 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1346789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 11914876 PRICKLE1 prickle planar cell polarity protein 1 gene DOID:0111448 progressive myoclonus epilepsy 1B ISO RGD:1346789 D RGD:7240710 20180130 OMIM 11914876 PRICKLE1 prickle planar cell polarity protein 1 gene DOID:0111448 progressive myoclonus epilepsy 1B ISO RGD:1346789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B PMID:17576681|PMID:18414213|PMID:18976727|PMID:20301774|PMID:21276947|PMID:21901791|PMID:24689077|PMID:25741868|PMID:26378787|PMID:26467025|PMID:28492532|PMID:29358611|PMID:29790814|PMID:30564977|PMID:31035234|PMID:31875159|PMID:32214227|PMID:9536098 11914876 PRICKLE1 prickle planar cell polarity protein 1 gene DOID:1059 intellectual disability ISO RGD:1346789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21901791|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 11914876 PRICKLE1 prickle planar cell polarity protein 1 gene DOID:11832 visual epilepsy ISO RGD:735090 D RGD:9068941 20220728 RGD protein:increased expression:hippocampus: PMID:21905079|REF_RGD_ID:9686146 11914876 PRICKLE1 prickle planar cell polarity protein 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:1618248 D RGD:9068941 20220825 MouseDO OMIM:192430 11914876 PRICKLE1 prickle planar cell polarity protein 1 gene DOID:1826 epilepsy ISO RGD:1346789 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 11914876 PRICKLE1 prickle planar cell polarity protein 1 gene DOID:1826 epilepsy ISO RGD:1346789 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 11914876 PRICKLE1 prickle planar cell polarity protein 1 gene DOID:2234 focal epilepsy ISO RGD:1346789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal seizures with impairment of consciousness or awareness 11914876 PRICKLE1 prickle planar cell polarity protein 1 gene DOID:3328 temporal lobe epilepsy treatment ISO RGD:735090 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus: PMID:21905079|REF_RGD_ID:9686146 11914876 PRICKLE1 prickle planar cell polarity protein 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1346789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:21901791|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 11914876 PRICKLE1 prickle planar cell polarity protein 1 gene DOID:630 genetic disease ISO RGD:1346789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:20301774|PMID:21901791|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611|PMID:30564977|PMID:9536098 11914876 PRICKLE1 prickle planar cell polarity protein 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1346789 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: PME | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:21901791|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 11914903 DOK7 docking protein 7 gene DOID:0110668 congenital myasthenic syndrome 10 ISO RGD:1604958 D RGD:7240710 20180130 OMIM 11914903 DOK7 docking protein 7 gene DOID:0110668 congenital myasthenic syndrome 10 ISO RGD:1604958 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 10 PMID:10222457|PMID:1483054|PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:17576681|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:21520333|PMID:21850686|PMID:22230109|PMID:2261499|PMID:22661499|PMID:22884442|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24033266|PMID:24088041|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25557462|PMID:25741868|PMID:25849006|PMID:26467025|PMID:26583494|PMID:26633545|PMID:27391121|PMID:28024842|PMID:28492532|PMID:28716243|PMID:29054425|PMID:29118959|PMID:30266093|PMID:31618753|PMID:31880392|PMID:33146414|PMID:9536098 11914903 DOK7 docking protein 7 gene DOID:0111375 fetal akinesia deformation sequence syndrome ISO RGD:1604958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24033266|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25557462|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425 11914903 DOK7 docking protein 7 gene DOID:0111376 fetal akinesia deformation sequence syndrome 3 ISO RGD:1604958 D RGD:7240710 20190501 OMIM 11914903 DOK7 docking protein 7 gene DOID:0111376 fetal akinesia deformation sequence syndrome 3 ISO RGD:1604958 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:21850686|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24033266|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425|PMID:31880392 11914903 DOK7 docking protein 7 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1604958 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:10222457|PMID:1483054|PMID:16199547|PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:17576681|PMID:18161030|PMID:18165682|PMID:18414213|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20603078|PMID:20610155|PMID:21041412|PMID:21520333|PMID:21850686|PMID:22230109|PMID:2261499|PMID:22661499|PMID:22884442|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24033266|PMID:24088041|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25557462|PMID:25625551|PMID:25741868|PMID:25849006|PMID:26436962|PMID:26467025|PMID:26583494|PMID:26633545|PMID:27391121|PMID:28024842|PMID:28492532|PMID:28508085|PMID:28716243|PMID:29054425|PMID:29118959|PMID:29395675|PMID:30266093|PMID:31618753|PMID:31880392|PMID:32331917|PMID:33146414|PMID:9536098 11914903 DOK7 docking protein 7 gene DOID:1206 Rett syndrome ISO RGD:1604958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:16917026|PMID:18161030|PMID:18626973|PMID:21850686|PMID:22661499|PMID:25741868|PMID:28492532|PMID:31880392 11914903 DOK7 docking protein 7 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1604958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 11914903 DOK7 docking protein 7 gene DOID:1856 cherubism ISO RGD:1604958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11914903 DOK7 docking protein 7 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1604958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenia, limb-girdle, familial PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:21520333|PMID:21850686|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24033266|PMID:24088041|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25741868|PMID:25849006|PMID:26467025|PMID:26583494|PMID:26633545|PMID:27391121|PMID:28492532|PMID:28716243|PMID:29118959|PMID:31880392 11914903 DOK7 docking protein 7 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1604958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenia, limb-girdle, familial PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:21850686|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24033266|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25557462|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:28716243|PMID:29054425|PMID:29118959|PMID:30266093|PMID:31618753|PMID:31880392 11914903 DOK7 docking protein 7 gene DOID:630 genetic disease ISO RGD:1604958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:21520333|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24033266|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425 11914912 LOC100995908 olfactory receptor 5J2 gene DOID:1059 intellectual disability ISO RGD:1354256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11914912 LOC100995908 olfactory receptor 5J2 gene DOID:37 skin disease ISO RGD:1354256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28720099 11914912 LOC100995908 olfactory receptor 5J2 gene DOID:630 genetic disease ISO RGD:1354256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915009 CASC3 CASC3 exon junction complex subunit gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1353876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 11915009 CASC3 CASC3 exon junction complex subunit gene DOID:630 genetic disease ISO RGD:1353876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915032 MRPL11 mitochondrial ribosomal protein L11 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:1347202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:22219654|PMID:28492532 11915032 MRPL11 mitochondrial ribosomal protein L11 gene DOID:1059 intellectual disability ISO RGD:1347202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11915032 MRPL11 mitochondrial ribosomal protein L11 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1347202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11915032 MRPL11 mitochondrial ribosomal protein L11 gene DOID:2746 glycogen storage disease V ISO RGD:1347202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11915032 MRPL11 mitochondrial ribosomal protein L11 gene DOID:630 genetic disease ISO RGD:1347202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915032 MRPL11 mitochondrial ribosomal protein L11 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1347202 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11915032 MRPL11 mitochondrial ribosomal protein L11 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1347202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11915044 PAK1 p21 (RAC1) activated kinase 1 gene DOID:1059 intellectual disability ISO RGD:1346880 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11915044 PAK1 p21 (RAC1) activated kinase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1346880 D RGD:9068941 20200609 RGD protein:altered localization PMID:18347024|REF_RGD_ID:2299169 11915044 PAK1 p21 (RAC1) activated kinase 1 gene DOID:1612 breast cancer ISO RGD:1346880 D RGD:9068941 20200609 RGD PMID:16705121|REF_RGD_ID:2299167 11915044 PAK1 p21 (RAC1) activated kinase 1 gene DOID:1612 breast cancer ISO RGD:1346880 D RGD:9068941 20200609 RGD DNA:amplification PMID:17486065|REF_RGD_ID:2299165 11915044 PAK1 p21 (RAC1) activated kinase 1 gene DOID:1612 breast cancer ISO RGD:1346880 D RGD:9068941 20230225 RGD mRNA:increased expression:breast PMID:28055013|REF_RGD_ID:156430322 11915044 PAK1 p21 (RAC1) activated kinase 1 gene DOID:2154 nephroblastoma ISO RGD:1346880 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:12165855|REF_RGD_ID:2299168 11915044 PAK1 p21 (RAC1) activated kinase 1 gene DOID:2316 brain ischemia ISO RGD:3250 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17997827|REF_RGD_ID:2299171 11915044 PAK1 p21 (RAC1) activated kinase 1 gene DOID:2671 transitional cell carcinoma severity ISO RGD:1346880 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:18167251|REF_RGD_ID:2299157 11915044 PAK1 p21 (RAC1) activated kinase 1 gene DOID:4001 ovarian carcinoma severity ISO RGD:1346880 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:17533742|REF_RGD_ID:2299164 11915044 PAK1 p21 (RAC1) activated kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:1346880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17621631 11915044 PAK1 p21 (RAC1) activated kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:1346880 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17621631|REF_RGD_ID:2299159 11915044 PAK1 p21 (RAC1) activated kinase 1 gene DOID:5419 schizophrenia ISO RGD:1346880 D RGD:9068941 20200609 RGD protein:decreased threonine phosphorylation:anterior cingulate cortex, dorsolateral prefrontal cortex PMID:22458949|REF_RGD_ID:11533950 11915044 PAK1 p21 (RAC1) activated kinase 1 gene DOID:576 proteinuria ISO RGD:1346880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20071462 11915044 PAK1 p21 (RAC1) activated kinase 1 gene DOID:630 genetic disease ISO RGD:1346880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10975528|PMID:30290153 11915044 PAK1 p21 (RAC1) activated kinase 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:1346880 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35066776 11915044 PAK1 p21 (RAC1) activated kinase 1 gene DOID:9002514 Neointima ISO RGD:3250 D RGD:9068941 20200609 RGD PMID:19359598|PMID:22922962|REF_RGD_ID:10041068|REF_RGD_ID:11533945 11915044 PAK1 p21 (RAC1) activated kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1346880 D RGD:9068941 20200609 RGD DNA:amplification PMID:16753589|REF_RGD_ID:2299166 11915044 PAK1 p21 (RAC1) activated kinase 1 gene DOID:9003139 Cardiac Fibrosis ISO RGD:736234 D RGD:9068941 20200609 RGD PMID:22082674|REF_RGD_ID:11533929 11915044 PAK1 p21 (RAC1) activated kinase 1 gene DOID:9003936 Cardiomegaly ISO RGD:736234 D RGD:9068941 20200609 RGD PMID:22082674|REF_RGD_ID:11533929 11915044 PAK1 p21 (RAC1) activated kinase 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1346880 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35066776 11915044 PAK1 p21 (RAC1) activated kinase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1346880 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35066776 11915044 PAK1 p21 (RAC1) activated kinase 1 gene DOID:9004610 Acute Lung Injury ISO RGD:3250 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:23546543|REF_RGD_ID:11533951 11915044 PAK1 p21 (RAC1) activated kinase 1 gene DOID:9004763 Trauma and Stressor Related Disorders disease_progression ISO RGD:3250 D RGD:9068941 20220428 RGD PMID:22078298|REF_RGD_ID:152023731 11915044 PAK1 p21 (RAC1) activated kinase 1 gene DOID:9007096 Stroke ISO RGD:1346880 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:17997827|REF_RGD_ID:2299171 11915044 PAK1 p21 (RAC1) activated kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1346880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20179234 11915044 PAK1 p21 (RAC1) activated kinase 1 gene DOID:9009239 Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay ISO RGD:1346880 D RGD:7240710 20190315 OMIM 11915044 PAK1 p21 (RAC1) activated kinase 1 gene DOID:9009239 Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay ISO RGD:1346880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with macrocephaly, seizures, and speech delay | ClinVar Annotator: match by term: PAK1-related neurodevelopmental disorders PMID:10975528|PMID:25741868|PMID:28492532|PMID:30290153|PMID:31504246 11915094 KIAA0319 KIAA0319 ortholog gene DOID:630 genetic disease ISO RGD:1348294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915142 PGAP1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1605037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 11915142 PGAP1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:4621 holoprosencephaly ISO RGD:1619812 D RGD:9068941 20220825 MouseDO 11915142 PGAP1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:630 genetic disease ISO RGD:1605037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17711852|PMID:25741868|PMID:26050939|PMID:27848944|PMID:28492532 11915142 PGAP1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9002189 High Myopia ISO RGD:1605037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11915142 PGAP1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11915142 PGAP1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1605037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:25804403|PMID:26350515 11915142 PGAP1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9006299 Mental Retardation, Autosomal Recessive 42 ISO RGD:1605037 D RGD:7240710 20180130 OMIM 11915142 PGAP1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9006299 Mental Retardation, Autosomal Recessive 42 ISO RGD:1605037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 9 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FEATURES, SPASTICITY, AND BRAIN ABNORMALITIES PMID:16199547|PMID:17576681|PMID:17711852|PMID:24482476|PMID:25741868|PMID:25804403|PMID:25823418|PMID:26050939|PMID:26350515|PMID:27457812|PMID:27848944|PMID:28492532|PMID:34906502|PMID:9536098 11915178 SARM1 sterile alpha and TIR motif containing 1 gene DOID:0111678 hereditary folate malabsorption ISO RGD:1320776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital defect of folate absorption PMID:11807405|PMID:17129779|PMID:17446347|PMID:19740703|PMID:20301716|PMID:20686069|PMID:21489556|PMID:22345511|PMID:25741868|PMID:27664775|PMID:28492532 11915178 SARM1 sterile alpha and TIR motif containing 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1320776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478430 11915178 SARM1 sterile alpha and TIR motif containing 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1320776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 11915178 SARM1 sterile alpha and TIR motif containing 1 gene DOID:630 genetic disease ISO RGD:1320776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11807405|PMID:17129779|PMID:19740703|PMID:20301716|PMID:21489556|PMID:25741868|PMID:27664775|PMID:28492532 11915191 ACBD3 acyl-CoA binding domain containing 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1348505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11915191 ACBD3 acyl-CoA binding domain containing 3 gene DOID:630 genetic disease ISO RGD:1348505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915191 ACBD3 acyl-CoA binding domain containing 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11915204 CRAT carnitine O-acetyltransferase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11915204 CRAT carnitine O-acetyltransferase gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1350289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:25741868|PMID:28492532|PMID:29395073 11915204 CRAT carnitine O-acetyltransferase gene DOID:630 genetic disease ISO RGD:1350289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11915204 CRAT carnitine O-acetyltransferase gene DOID:9008371 Carnitine Acetyltransferase Deficiency ISO RGD:1350289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CARNITINE ACETYLTRANSFERASE DEFICIENCY PMID:28492532|PMID:31448845 11915204 CRAT carnitine O-acetyltransferase gene DOID:9009153 Neurodegeneration with Brain Iron Accumulation 8 ISO RGD:1350289 D RGD:7240710 20190315 OMIM 11915204 CRAT carnitine O-acetyltransferase gene DOID:9009153 Neurodegeneration with Brain Iron Accumulation 8 ISO RGD:1350289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 8 PMID:25741868|PMID:28492532|PMID:29395073 11915232 LOC100983379 olfactory receptor 4L1 gene DOID:630 genetic disease ISO RGD:1349097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915236 CABCOCO1 ciliary associated calcium binding coiled-coil 1 gene DOID:9005369 Hepatomegaly ISO RGD:1315529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 11915253 FXYD1 FXYD domain containing ion transport regulator 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:734187 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11915253 FXYD1 FXYD domain containing ion transport regulator 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:734187 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11915253 FXYD1 FXYD domain containing ion transport regulator 1 gene DOID:543 dystonia ISO RGD:734187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11915253 FXYD1 FXYD domain containing ion transport regulator 1 gene DOID:6000 congestive heart failure ISO RGD:69306 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:heart, membrane PMID:26668322|REF_RGD_ID:11526267 11915253 FXYD1 FXYD domain containing ion transport regulator 1 gene DOID:630 genetic disease ISO RGD:734187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915253 FXYD1 FXYD domain containing ion transport regulator 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:737203 D RGD:9068941 20200609 RGD PMID:24218169|REF_RGD_ID:9685471 11915253 FXYD1 FXYD domain containing ion transport regulator 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:69306 D RGD:9068941 20200609 RGD PMID:14597563|REF_RGD_ID:9685466 11915292 HS6ST1 heparan sulfate 6-O-sulfotransferase 1 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1319437 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 11915292 HS6ST1 heparan sulfate 6-O-sulfotransferase 1 gene DOID:0090075 hypogonadotropic hypogonadism 15 with or without anosmia ISO RGD:1319437 D RGD:7240710 20180130 OMIM 11915292 HS6ST1 heparan sulfate 6-O-sulfotransferase 1 gene DOID:0090075 hypogonadotropic hypogonadism 15 with or without anosmia ISO RGD:1319437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 15 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 15 with or without anosmia PMID:21700882|PMID:23643382|PMID:24033266|PMID:25077900|PMID:25636053|PMID:25741868|PMID:27535533|PMID:28492532|PMID:6881209 11915292 HS6ST1 heparan sulfate 6-O-sulfotransferase 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1319437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:21700882|PMID:23643382|PMID:24033266|PMID:25636053|PMID:25741868|PMID:27535533|PMID:28492532 11915292 HS6ST1 heparan sulfate 6-O-sulfotransferase 1 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1319437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 11915292 HS6ST1 heparan sulfate 6-O-sulfotransferase 1 gene DOID:1921 Klinefelter syndrome ISO RGD:1319437 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 11915292 HS6ST1 heparan sulfate 6-O-sulfotransferase 1 gene DOID:630 genetic disease ISO RGD:1319437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915316 LPIN3 lipin 3 gene DOID:2234 focal epilepsy ISO RGD:1342644 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11915316 LPIN3 lipin 3 gene DOID:630 genetic disease ISO RGD:1342644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915354 TTLL2 tubulin tyrosine ligase like 2 gene DOID:630 genetic disease ISO RGD:1313087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915365 SLK STE20 like kinase gene DOID:303 substance-related disorder ISO RGD:733761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11915365 SLK STE20 like kinase gene DOID:630 genetic disease ISO RGD:733761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915365 SLK STE20 like kinase gene DOID:9004009 Reperfusion Injury ISO RGD:3780 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:12965890|REF_RGD_ID:2304069 11915389 CSNK2A2 casein kinase 2 alpha 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315751 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11915389 CSNK2A2 casein kinase 2 alpha 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315751 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11915389 CSNK2A2 casein kinase 2 alpha 2 gene DOID:12336 male infertility ISO RGD:1315752 D RGD:9068941 20220825 MouseDO 11915389 CSNK2A2 casein kinase 2 alpha 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1315751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 11915389 CSNK2A2 casein kinase 2 alpha 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1315751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11915389 CSNK2A2 casein kinase 2 alpha 2 gene DOID:630 genetic disease ISO RGD:1315751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915389 CSNK2A2 casein kinase 2 alpha 2 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:1315752 D RGD:9068941 20200609 RGD PMID:16651637|REF_RGD_ID:11565123 11915389 CSNK2A2 casein kinase 2 alpha 2 gene DOID:9004464 Skin Neoplasms ISO RGD:1315751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 11915404 CAP1 cyclase associated actin cytoskeleton regulatory protein 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1349457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11915404 CAP1 cyclase associated actin cytoskeleton regulatory protein 1 gene DOID:11476 osteoporosis ISO RGD:1349457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 11915404 CAP1 cyclase associated actin cytoskeleton regulatory protein 1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1349457 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas PMID:19188911|REF_RGD_ID:2326238 11915404 CAP1 cyclase associated actin cytoskeleton regulatory protein 1 gene DOID:630 genetic disease ISO RGD:1349457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915404 CAP1 cyclase associated actin cytoskeleton regulatory protein 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349457 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms; mRNA, protein:increased expression:pancreas PMID:19188911|REF_RGD_ID:2326238 11915404 CAP1 cyclase associated actin cytoskeleton regulatory protein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11915452 NEURL2 neuralized E3 ubiquitin protein ligase 2 gene DOID:0080540 galactosialidosis ISO RGD:1315006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined deficiency of sialidase AND beta galactosidase 11915452 NEURL2 neuralized E3 ubiquitin protein ligase 2 gene DOID:2234 focal epilepsy ISO RGD:1315006 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11915452 NEURL2 neuralized E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:1315006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915452 NEURL2 neuralized E3 ubiquitin protein ligase 2 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1315006 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11915458 IGFLR1 IGF like family receptor 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1605956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11915458 IGFLR1 IGF like family receptor 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1605956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11915458 IGFLR1 IGF like family receptor 1 gene DOID:543 dystonia ISO RGD:1605956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11915458 IGFLR1 IGF like family receptor 1 gene DOID:630 genetic disease ISO RGD:1605956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915473 TTC14 tetratricopeptide repeat domain 14 gene DOID:0110598 primary ciliary dyskinesia 14 ISO RGD:1320720 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 14 PMID:21131972|PMID:23255504|PMID:24033266|PMID:25741868|PMID:28492532 11915473 TTC14 tetratricopeptide repeat domain 14 gene DOID:0111546 Currarino syndrome ISO RGD:1320720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11915473 TTC14 tetratricopeptide repeat domain 14 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1320720 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 11915473 TTC14 tetratricopeptide repeat domain 14 gene DOID:630 genetic disease ISO RGD:1320720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11915473 TTC14 tetratricopeptide repeat domain 14 gene DOID:9004821 Fibrous Sheath Dysplasia ISO RGD:1320720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous Sheath Dysplasia 11915473 TTC14 tetratricopeptide repeat domain 14 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:21131972|PMID:23255504|PMID:23891469|PMID:24033266|PMID:25741868|PMID:28492532|PMID:33005176|PMID:9536098 11915493 CYP4A11 cytochrome P450 family 4 subfamily A member 11 gene DOID:0060041 autism spectrum disorder ISO RGD:730831 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11915493 CYP4A11 cytochrome P450 family 4 subfamily A member 11 gene DOID:10763 hypertension ISO RGD:730831 D RGD:9068941 20200609 RGD PMID:16144986|REF_RGD_ID:1625567 11915493 CYP4A11 cytochrome P450 family 4 subfamily A member 11 gene DOID:5082 liver cirrhosis ISO RGD:730831 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:36368619 11915493 CYP4A11 cytochrome P450 family 4 subfamily A member 11 gene DOID:630 genetic disease ISO RGD:730831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915493 CYP4A11 cytochrome P450 family 4 subfamily A member 11 gene DOID:684 hepatocellular carcinoma ISO RGD:730831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11915509 PTPN5 protein tyrosine phosphatase non-receptor type 5 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:736589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 11915509 PTPN5 protein tyrosine phosphatase non-receptor type 5 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:736589 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 11915509 PTPN5 protein tyrosine phosphatase non-receptor type 5 gene DOID:1059 intellectual disability ISO RGD:736589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11915509 PTPN5 protein tyrosine phosphatase non-receptor type 5 gene DOID:10652 Alzheimer's disease ISO RGD:736589 D RGD:9068941 20200609 RGD protein:increased expression:prefrontal cortex (human) PMID:20427654|REF_RGD_ID:9835008 11915509 PTPN5 protein tyrosine phosphatase non-receptor type 5 gene DOID:10652 Alzheimer's disease ISO RGD:736590 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus (mouse) PMID:16237174|REF_RGD_ID:10044037 11915509 PTPN5 protein tyrosine phosphatase non-receptor type 5 gene DOID:10652 Alzheimer's disease severity ISO RGD:736590 D RGD:9068941 20200609 RGD PMID:20956308|REF_RGD_ID:9835007 11915509 PTPN5 protein tyrosine phosphatase non-receptor type 5 gene DOID:224 transient cerebral ischemia ISO RGD:3448 D RGD:9068941 20200609 RGD protein:decreased phosphorylation, decreased expression:striatum (rat) PMID:24198371|REF_RGD_ID:9835010 11915509 PTPN5 protein tyrosine phosphatase non-receptor type 5 gene DOID:224 transient cerebral ischemia severity ISO RGD:736590 D RGD:9068941 20200609 RGD PMID:24198371|REF_RGD_ID:9835010 11915509 PTPN5 protein tyrosine phosphatase non-receptor type 5 gene DOID:224 transient cerebral ischemia treatment ISO RGD:3448 D RGD:9068941 20200609 RGD PMID:24198371|REF_RGD_ID:9835010 11915509 PTPN5 protein tyrosine phosphatase non-receptor type 5 gene DOID:630 genetic disease ISO RGD:736589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915509 PTPN5 protein tyrosine phosphatase non-receptor type 5 gene DOID:9002955 Nerve Degeneration ISO RGD:736589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17360923 11915509 PTPN5 protein tyrosine phosphatase non-receptor type 5 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:3448 D RGD:9068941 20200609 RGD STEP33;protein:increased expression:forebrain (rat) PMID:10537057|REF_RGD_ID:9835021 11915509 PTPN5 protein tyrosine phosphatase non-receptor type 5 gene DOID:9008091 Optic Nerve Injuries ISO RGD:3448 D RGD:9068941 20200609 RGD protein:increased expression:retina (rat) PMID:15555919|REF_RGD_ID:9835027 11915538 NALF1 NALCN channel auxiliary factor 1 gene DOID:630 genetic disease ISO RGD:2293495 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915538 NALF1 NALCN channel auxiliary factor 1 gene DOID:7475 diverticulitis ISO RGD:2293495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28585551 11915538 NALF1 NALCN channel auxiliary factor 1 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:2293495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11915549 SLC4A3 solute carrier family 4 member 3 gene DOID:114 heart disease ISO RGD:733142 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 11915549 SLC4A3 solute carrier family 4 member 3 gene DOID:1148 polydactyly ISO RGD:733142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 11915549 SLC4A3 solute carrier family 4 member 3 gene DOID:630 genetic disease ISO RGD:733142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915549 SLC4A3 solute carrier family 4 member 3 gene DOID:8466 retinal degeneration ISO RGD:12107555 D RGD:9068941 20221201 OMIA Progressive retinal atrophy, SLC4A3-related PMID:21738669|PMID:22065099|PMID:36325094 11915549 SLC4A3 solute carrier family 4 member 3 gene DOID:9004002 Short QT Syndrome 7 ISO RGD:733142 D RGD:7240710 20230215 OMIM 11915549 SLC4A3 solute carrier family 4 member 3 gene DOID:9004002 Short QT Syndrome 7 ISO RGD:733142 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Short QT syndrome 7 PMID:29167417 11915549 SLC4A3 solute carrier family 4 member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11915576 DGKA diacylglycerol kinase alpha gene DOID:630 genetic disease ISO RGD:732760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915597 LOC100975566 butyrophilin subfamily 2 member A2 gene DOID:630 genetic disease ISO RGD:1315891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915627 PLK5 polo like kinase 5 (inactive) gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:2302687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 11915627 PLK5 polo like kinase 5 (inactive) gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:2302687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 11915627 PLK5 polo like kinase 5 (inactive) gene DOID:5339 cyclic hematopoiesis ISO RGD:2302687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11915627 PLK5 polo like kinase 5 (inactive) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2302687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11915644 UGCG UDP-glucose ceramide glucosyltransferase gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1349188 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital nonbullous ichthyosiform erythroderma PMID:29417556 11915644 UGCG UDP-glucose ceramide glucosyltransferase gene DOID:0080600 COVID-19 ISO RGD:1349188 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33639165 11915644 UGCG UDP-glucose ceramide glucosyltransferase gene DOID:630 genetic disease ISO RGD:1349188 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915644 UGCG UDP-glucose ceramide glucosyltransferase gene DOID:9001488 Human Influenza ISO RGD:1349188 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33639165 11915644 UGCG UDP-glucose ceramide glucosyltransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11915644 UGCG UDP-glucose ceramide glucosyltransferase gene DOID:9007102 Myocardial Ischemia ISO RGD:1349188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11915663 SLC35B3 solute carrier family 35 member B3 gene DOID:630 genetic disease ISO RGD:1316221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915696 SPN sialophorin gene DOID:0060041 autism spectrum disorder ISO RGD:737577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 11915696 SPN sialophorin gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:737577 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 11915696 SPN sialophorin gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:737577 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 11915696 SPN sialophorin gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:737577 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 11915696 SPN sialophorin gene DOID:12849 autistic disorder ISO RGD:737577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11915696 SPN sialophorin gene DOID:182 calcinosis ISO RGD:737577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11915696 SPN sialophorin gene DOID:1882 atrial heart septal defect ISO RGD:737577 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 11915696 SPN sialophorin gene DOID:4079 heart valve disease ISO RGD:737577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11915696 SPN sialophorin gene DOID:5419 schizophrenia ISO RGD:737577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11915696 SPN sialophorin gene DOID:630 genetic disease ISO RGD:737577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915696 SPN sialophorin gene DOID:9002457 Experimental Arthritis ISO RGD:3750 D RGD:9068941 20200609 RGD associated with Staphylococcal Infections PMID:7927732|REF_RGD_ID:2303983 11915696 SPN sialophorin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11915696 SPN sialophorin gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:737577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 11915702 YIPF7 Yip1 domain family member 7 gene DOID:630 genetic disease ISO RGD:1604708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915717 TAS2R10 taste 2 receptor member 10 gene DOID:630 genetic disease ISO RGD:1347690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915722 RFTN2 raftlin family member 2 gene DOID:630 genetic disease ISO RGD:1316421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915722 RFTN2 raftlin family member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11915743 UBE2G2 ubiquitin conjugating enzyme E2 G2 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1312541 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 11915743 UBE2G2 ubiquitin conjugating enzyme E2 G2 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1312541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11915743 UBE2G2 ubiquitin conjugating enzyme E2 G2 gene DOID:0110266 cataract 9 multiple types ISO RGD:1312541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11915743 UBE2G2 ubiquitin conjugating enzyme E2 G2 gene DOID:12849 autistic disorder ISO RGD:1312541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11915743 UBE2G2 ubiquitin conjugating enzyme E2 G2 gene DOID:630 genetic disease ISO RGD:1312541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915743 UBE2G2 ubiquitin conjugating enzyme E2 G2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1312541 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11915743 UBE2G2 ubiquitin conjugating enzyme E2 G2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11915743 UBE2G2 ubiquitin conjugating enzyme E2 G2 gene DOID:9263 homocystinuria ISO RGD:1312541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11915743 UBE2G2 ubiquitin conjugating enzyme E2 G2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1312541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11915763 PADI1 peptidyl arginine deiminase 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1344006 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11915763 PADI1 peptidyl arginine deiminase 1 gene DOID:630 genetic disease ISO RGD:1344006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915783 DLC1 DLC1 Rho GTPase activating protein gene DOID:0080074 neural tube defect ISO RGD:68616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:25741868 11915783 DLC1 DLC1 Rho GTPase activating protein gene DOID:13938 amenorrhea ISO RGD:68616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11915783 DLC1 DLC1 Rho GTPase activating protein gene DOID:14566 disease of cellular proliferation ISO RGD:68616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21455586 11915783 DLC1 DLC1 Rho GTPase activating protein gene DOID:1520 colon carcinoma ISO RGD:68616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:10649492 11915783 DLC1 DLC1 Rho GTPase activating protein gene DOID:630 genetic disease ISO RGD:68616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11915783 DLC1 DLC1 Rho GTPase activating protein gene DOID:9000217 Stomach Neoplasms ISO RGD:68616 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26401016 11915783 DLC1 DLC1 Rho GTPase activating protein gene DOID:9002762 Ovarian Neoplasms ISO RGD:68616 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15674352 11915783 DLC1 DLC1 Rho GTPase activating protein gene DOID:9008443 Colorectal Neoplasms ISO RGD:68616 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 11915783 DLC1 DLC1 Rho GTPase activating protein gene DOID:9256 colorectal cancer ISO RGD:68616 D RGD:7240710 20200226 OMIM 11915783 DLC1 DLC1 Rho GTPase activating protein gene DOID:9256 colorectal cancer ISO RGD:68616 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:25741868|PMID:28492532 11915804 RAD51AP1 RAD51 associated protein 1 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1353541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 11915804 RAD51AP1 RAD51 associated protein 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1353541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11915804 RAD51AP1 RAD51 associated protein 1 gene DOID:630 genetic disease ISO RGD:1353541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915804 RAD51AP1 RAD51 associated protein 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1353541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11915819 FNBP1 formin binding protein 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11915819 FNBP1 formin binding protein 1 gene DOID:630 genetic disease ISO RGD:1350700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915844 PIRT phosphoinositide interacting regulator of transient receptor potential channels gene DOID:630 genetic disease ISO RGD:3539788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915850 LURAP1L leucine rich adaptor protein 1 like gene DOID:630 genetic disease ISO RGD:1317610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915850 LURAP1L leucine rich adaptor protein 1 like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11915850 LURAP1L leucine rich adaptor protein 1 like gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1317610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 11915856 BIK BCL2 interacting killer gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1347683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11915856 BIK BCL2 interacting killer gene DOID:10283 prostate cancer ISO RGD:1347683 D RGD:9068941 20200609 RGD PMID:14633680|REF_RGD_ID:14394816 11915856 BIK BCL2 interacting killer gene DOID:1059 intellectual disability ISO RGD:1347683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11915856 BIK BCL2 interacting killer gene DOID:12704 ataxia telangiectasia susceptibility ISO RGD:1347683 D RGD:9068941 20200609 RGD DNA:deletion:intron:IVS4-12delTC(human) PMID:19898928|REF_RGD_ID:14394817 11915856 BIK BCL2 interacting killer gene DOID:1612 breast cancer ISO RGD:1347683 D RGD:9068941 20200609 RGD PMID:14633680|REF_RGD_ID:14394816 11915856 BIK BCL2 interacting killer gene DOID:219 colon cancer treatment ISO RGD:1347683 D RGD:9068941 20200609 RGD PMID:17636408|REF_RGD_ID:14394819 11915856 BIK BCL2 interacting killer gene DOID:4450 renal cell carcinoma ISO RGD:1347683 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:16322756|REF_RGD_ID:14394818 11915856 BIK BCL2 interacting killer gene DOID:630 genetic disease ISO RGD:1347683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915856 BIK BCL2 interacting killer gene DOID:9000081 Lymphatic Metastasis ISO RGD:1347683 D RGD:9068941 20200609 RGD associated with cholangiocarcinoma;DNA:CNV:: PMID:16865775|REF_RGD_ID:14394820 11915856 BIK BCL2 interacting killer gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1347683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 11915868 PRDX4 peroxiredoxin 4 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:731497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 11915868 PRDX4 peroxiredoxin 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11915868 PRDX4 peroxiredoxin 4 gene DOID:10603 glucose intolerance ISO RGD:731497 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20446767 11915868 PRDX4 peroxiredoxin 4 gene DOID:12849 autistic disorder ISO RGD:731497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11915868 PRDX4 peroxiredoxin 4 gene DOID:3042 allergic contact dermatitis ISO RGD:731497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 11915868 PRDX4 peroxiredoxin 4 gene DOID:4195 hyperglycemia ISO RGD:731497 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20446767 11915868 PRDX4 peroxiredoxin 4 gene DOID:630 genetic disease ISO RGD:731497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915868 PRDX4 peroxiredoxin 4 gene DOID:9000918 Disease Progression ISO RGD:731497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 11915868 PRDX4 peroxiredoxin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11915882 POLR2D RNA polymerase II subunit D gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1318411 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 11915882 POLR2D RNA polymerase II subunit D gene DOID:630 genetic disease ISO RGD:1318411 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915883 LOC100993586 uncharacterized LOC100993586 gene DOID:2222 factor X deficiency ISO RGD:6484484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 11915895 GNGT2 G protein subunit gamma transducin 2 gene DOID:630 genetic disease ISO RGD:1343902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915895 GNGT2 G protein subunit gamma transducin 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11915919 MATN1 matrilin 1 gene DOID:630 genetic disease ISO RGD:1352772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915931 KLHL31 kelch like family member 31 gene DOID:14717 centronuclear myopathy ISO RGD:1619800 D RGD:9068941 20220825 MouseDO OMIM:160150 | OMIM:255200 | OMIM:310400 | OMIM:614408 | OMIM:614807 | OMIM:615959 11915931 KLHL31 kelch like family member 31 gene DOID:630 genetic disease ISO RGD:1348720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11915991 DEF6 DEF6 guanine nucleotide exchange factor gene DOID:0050553 JMP syndrome ISO RGD:1317434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11915991 DEF6 DEF6 guanine nucleotide exchange factor gene DOID:630 genetic disease ISO RGD:1317434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11915991 DEF6 DEF6 guanine nucleotide exchange factor gene DOID:9002508 Immunodeficiency 87 and Autoimmunity ISO RGD:1317434 D RGD:7240710 20211110 OMIM 11915991 DEF6 DEF6 guanine nucleotide exchange factor gene DOID:9002508 Immunodeficiency 87 and Autoimmunity ISO RGD:1317434 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 87 and autoimmunity PMID:25741868|PMID:28492532|PMID:31308374|PMID:32562707 11915991 DEF6 DEF6 guanine nucleotide exchange factor gene DOID:9074 systemic lupus erythematosus ISO RGD:1317434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26808113 11915991 DEF6 DEF6 guanine nucleotide exchange factor gene DOID:9074 systemic lupus erythematosus ISO RGD:1317435 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 11916006 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1349422 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11916006 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0050476 Barth syndrome ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11916006 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0050781 Ogden syndrome ISO RGD:1349422 D RGD:7240710 20180130 OMIM 11916006 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0050781 Ogden syndrome ISO RGD:1349422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ogden syndrome PMID:18414213|PMID:21700266|PMID:23020937|PMID:25099252|PMID:25326635|PMID:25489052|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28327206|PMID:28492532|PMID:28708303|PMID:29558889|PMID:29957440|PMID:31127942|PMID:31174490|PMID:34200686|PMID:35039925 11916006 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0050800 creatine transporter deficiency ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 11916006 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0060165 Kleine-Levin syndrome ISO RGD:1349422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kleine-Levin syndrome 11916006 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 11916006 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 11916006 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 11916006 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 11916006 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0111799 syndromic microphthalmia 1 ISO RGD:1349422 D RGD:7240710 20180130 OMIM 11916006 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0111799 syndromic microphthalmia 1 ISO RGD:1349422 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microphthalmia, syndromic 1 PMID:11426460|PMID:16114045|PMID:1679229|PMID:24033266|PMID:24431331|PMID:25741868|PMID:28492532|PMID:30842225 11916006 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 11916006 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349422 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 11916006 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0112003 immunodeficiency 33 ISO RGD:1349422 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11916006 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:10588 adrenoleukodystrophy ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11916006 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:1059 intellectual disability ISO RGD:1349422 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:18414213|PMID:24033266|PMID:25741868|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:34200686|PMID:35039925 11916006 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11916006 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:12849 autistic disorder ISO RGD:1349422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11916006 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:13628 favism ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11916006 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:2729 dyskeratosis congenita ISO RGD:1349422 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11916006 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:3910 lung adenocarcinoma ISO RGD:1349422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11916006 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:607 paraplegia ISO RGD:1349422 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11916006 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:630 genetic disease ISO RGD:1349422 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:34200686 11916006 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9002720 Splenomegaly ISO RGD:1349422 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11916006 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:24033266|PMID:25741868 11916006 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:15689435|PMID:16080119|PMID:28492532 11916006 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 11916006 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9006205 Animal Disease Models ISO RGD:1349422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11916017 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:0050572 cone-rod dystrophy ISO RGD:1346782 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 11916017 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:0050795 cone dystrophy ISO RGD:1346782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy | ClinVar Annotator: match by term: RETINAL CONE DYSTROPHY PMID:28041643|PMID:28492532|PMID:30718709 11916017 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:0080314 cone-rod dystrophy 14 ISO RGD:1346782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy 3 PMID:17576681|PMID:25741868|PMID:28492532|PMID:30718709|PMID:9536098 11916017 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:0081023 retinal cone dystrophy 4 ISO RGD:1346782 D RGD:7240710 20180130 OMIM 11916017 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:0081023 retinal cone dystrophy 4 ISO RGD:1346782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal cone dystrophy 4 PMID:17033974|PMID:24033266|PMID:25741868|PMID:26002053|PMID:26218913|PMID:26560832|PMID:28041643|PMID:28492532|PMID:30718709 11916017 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1346782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 11916017 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:2843 long QT syndrome ISO RGD:1346782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11916017 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:630 genetic disease ISO RGD:1346782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11916017 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:8501 fundus dystrophy ISO RGD:1346782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 11916017 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1346782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11916017 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:9008296 Eye Abnormalities ISO RGD:1346782 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:17033974|PMID:24033266|PMID:26560832|PMID:28041643|PMID:28492532 11916059 PTGFRN prostaglandin F2 receptor inhibitor gene DOID:0080600 COVID-19 ISO RGD:733934 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11916059 PTGFRN prostaglandin F2 receptor inhibitor gene DOID:630 genetic disease ISO RGD:733934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11916080 IP6K1 inositol hexakisphosphate kinase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 11916080 IP6K1 inositol hexakisphosphate kinase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 11916080 IP6K1 inositol hexakisphosphate kinase 1 gene DOID:630 genetic disease ISO RGD:1343323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11916080 IP6K1 inositol hexakisphosphate kinase 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1343323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11916098 LOC100986591 chloride channel protein ClC-Ka gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:68651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness PMID:30303587 11916098 LOC100986591 chloride channel protein ClC-Ka gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:68651 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11916098 LOC100986591 chloride channel protein ClC-Ka gene DOID:0110144 Bartter disease type 3 ISO RGD:68651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bartter disease type 3 PMID:25741868 11916098 LOC100986591 chloride channel protein ClC-Ka gene DOID:0110146 Bartter disease type 4b ISO RGD:68651 D RGD:7240710 20180130 OMIM 11916098 LOC100986591 chloride channel protein ClC-Ka gene DOID:0110146 Bartter disease type 4b ISO RGD:68651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bartter disease type 4B PMID:15044642|PMID:18310267|PMID:25741868|PMID:26467025|PMID:28492532 11916098 LOC100986591 chloride channel protein ClC-Ka gene DOID:10003 sensorineural hearing loss ISO RGD:68651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 11916098 LOC100986591 chloride channel protein ClC-Ka gene DOID:10763 hypertension ISO RGD:68651 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18480177 11916098 LOC100986591 chloride channel protein ClC-Ka gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:68652 D RGD:9068941 20200609 RGD PMID:9916798|REF_RGD_ID:1300296 11916098 LOC100986591 chloride channel protein ClC-Ka gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:68652 D RGD:9068941 20220825 MouseDO OMIM:125800 | OMIM:304800 11916098 LOC100986591 chloride channel protein ClC-Ka gene DOID:630 genetic disease ISO RGD:68651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11916098 LOC100986591 chloride channel protein ClC-Ka gene DOID:9008681 Deafness ISO RGD:68651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 11916137 BBS7 Bardet-Biedl syndrome 7 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1319511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:25741868|PMID:28492532 11916137 BBS7 Bardet-Biedl syndrome 7 gene DOID:0110129 Bardet-Biedl syndrome 7 ISO RGD:1319511 D RGD:7240710 20180130 OMIM 11916137 BBS7 Bardet-Biedl syndrome 7 gene DOID:0110129 Bardet-Biedl syndrome 7 ISO RGD:1319511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 7 PMID:12567324|PMID:16308660|PMID:17576681|PMID:19402160|PMID:20498079|PMID:21209035|PMID:21344540|PMID:21642631|PMID:21937992|PMID:22302990|PMID:22500027|PMID:23462753|PMID:23572516|PMID:23847139|PMID:25553308|PMID:25741868|PMID:26003401|PMID:26325687|PMID:26518167|PMID:27486776|PMID:28492532|PMID:30614526|PMID:30718709|PMID:31196119|PMID:33777945|PMID:9536098 11916137 BBS7 Bardet-Biedl syndrome 7 gene DOID:10584 retinitis pigmentosa ISO RGD:1319511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:30718709 11916137 BBS7 Bardet-Biedl syndrome 7 gene DOID:1059 intellectual disability ISO RGD:1319511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11916137 BBS7 Bardet-Biedl syndrome 7 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1319511 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12567324|PMID:16199547|PMID:16308660|PMID:17576681|PMID:19402160|PMID:19797195|PMID:20498079|PMID:21052717|PMID:21209035|PMID:21344540|PMID:21642631|PMID:22302990|PMID:22500027|PMID:23572516|PMID:23847139|PMID:25553308|PMID:25741868|PMID:26003401|PMID:26325687|PMID:27486776|PMID:28492532|PMID:29970488|PMID:30029678|PMID:30614526|PMID:30718709|PMID:31196119|PMID:31469663|PMID:33777945|PMID:9536098 11916137 BBS7 Bardet-Biedl syndrome 7 gene DOID:630 genetic disease ISO RGD:1319511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30718709 11916137 BBS7 Bardet-Biedl syndrome 7 gene DOID:8501 fundus dystrophy ISO RGD:1319511 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:23462753|PMID:25741868 11916137 BBS7 Bardet-Biedl syndrome 7 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1319511 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 11916137 BBS7 Bardet-Biedl syndrome 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11916137 BBS7 Bardet-Biedl syndrome 7 gene DOID:9007665 Bardet-Biedl Syndrome 1/7, Digenic ISO RGD:1319511 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1/7, digenic PMID:12567324|PMID:20498079|PMID:21642631|PMID:22500027|PMID:23572516|PMID:25741868|PMID:28492532 11916161 PGGT1B protein geranylgeranyltransferase type I subunit beta gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:734288 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11916161 PGGT1B protein geranylgeranyltransferase type I subunit beta gene DOID:12849 autistic disorder ISO RGD:734288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11916161 PGGT1B protein geranylgeranyltransferase type I subunit beta gene DOID:630 genetic disease ISO RGD:734288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11916161 PGGT1B protein geranylgeranyltransferase type I subunit beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11916161 PGGT1B protein geranylgeranyltransferase type I subunit beta gene DOID:9005172 Lung Neoplasms ISO RGD:734288 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22028818 11916161 PGGT1B protein geranylgeranyltransferase type I subunit beta gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734288 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11916193 BTBD1 BTB domain containing 1 gene DOID:13938 amenorrhea ISO RGD:1322160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11916193 BTBD1 BTB domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1322160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11916193 BTBD1 BTB domain containing 1 gene DOID:630 genetic disease ISO RGD:1322160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11916193 BTBD1 BTB domain containing 1 gene DOID:9008456 Delayed Emergence from Anesthesia ISO RGD:1322160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16115977 11916193 BTBD1 BTB domain containing 1 gene DOID:9256 colorectal cancer ISO RGD:1322160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11916205 P2RX7 purinergic receptor P2X 7 gene DOID:14213 hypophosphatasia ISO RGD:730814 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27466191 11916205 P2RX7 purinergic receptor P2X 7 gene DOID:2377 multiple sclerosis ISO RGD:730814 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17728465 11916205 P2RX7 purinergic receptor P2X 7 gene DOID:3328 temporal lobe epilepsy ISO RGD:730814 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12121326|PMID:19084381 11916205 P2RX7 purinergic receptor P2X 7 gene DOID:5082 liver cirrhosis ISO RGD:730814 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32721574 11916205 P2RX7 purinergic receptor P2X 7 gene DOID:630 genetic disease ISO RGD:730814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11916205 P2RX7 purinergic receptor P2X 7 gene DOID:9000039 Spinal Cord Injuries ISO RGD:730814 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15258577 11916205 P2RX7 purinergic receptor P2X 7 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:730814 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11003599 11916205 P2RX7 purinergic receptor P2X 7 gene DOID:9006205 Animal Disease Models ISO RGD:730814 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27466191 11916222 HMCN2 hemicentin 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1626387 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11916345 GSTM4 glutathione S-transferase mu 4 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1606334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11916345 GSTM4 glutathione S-transferase mu 4 gene DOID:12849 autistic disorder ISO RGD:1606334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11916345 GSTM4 glutathione S-transferase mu 4 gene DOID:1289 neurodegenerative disease ISO RGD:1606334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 11916345 GSTM4 glutathione S-transferase mu 4 gene DOID:630 genetic disease ISO RGD:1606334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11916345 GSTM4 glutathione S-transferase mu 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1606334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11916365 SCUBE1 signal peptide, CUB domain and EGF like domain containing 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1319121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11916365 SCUBE1 signal peptide, CUB domain and EGF like domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1319121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11916365 SCUBE1 signal peptide, CUB domain and EGF like domain containing 1 gene DOID:630 genetic disease ISO RGD:1319121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11916365 SCUBE1 signal peptide, CUB domain and EGF like domain containing 1 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1319121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 11916391 SLC25A25 solute carrier family 25 member 25 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11916391 SLC25A25 solute carrier family 25 member 25 gene DOID:0060041 autism spectrum disorder ISO RGD:1351086 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11916391 SLC25A25 solute carrier family 25 member 25 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1351086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11916391 SLC25A25 solute carrier family 25 member 25 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1351086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11916391 SLC25A25 solute carrier family 25 member 25 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1351086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 11916391 SLC25A25 solute carrier family 25 member 25 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11916391 SLC25A25 solute carrier family 25 member 25 gene DOID:585 nephrolithiasis ISO RGD:1351086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrolithiasis 11916391 SLC25A25 solute carrier family 25 member 25 gene DOID:630 genetic disease ISO RGD:1351086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11916391 SLC25A25 solute carrier family 25 member 25 gene DOID:9002189 High Myopia ISO RGD:1351086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11916417 TMEM178B transmembrane protein 178B gene DOID:0080690 RASopathy ISO RGD:6767208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 11916417 TMEM178B transmembrane protein 178B gene DOID:630 genetic disease ISO RGD:6767208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11916427 CLK1 CDC like kinase 1 gene DOID:630 genetic disease ISO RGD:1322944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11916427 CLK1 CDC like kinase 1 gene DOID:8469 influenza ISO RGD:1550637 D RGD:9068941 20221110 RGD PMID:34883209|REF_RGD_ID:155641258 11916427 CLK1 CDC like kinase 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1322944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 11916427 CLK1 CDC like kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11916450 LAT2 linker for activation of T cells family member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1342914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 11916450 LAT2 linker for activation of T cells family member 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1342914 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:32587277 11916450 LAT2 linker for activation of T cells family member 2 gene DOID:10923 sickle cell anemia ISO RGD:1342914 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 11916450 LAT2 linker for activation of T cells family member 2 gene DOID:12849 autistic disorder ISO RGD:1342914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11916450 LAT2 linker for activation of T cells family member 2 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1342914 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 11916450 LAT2 linker for activation of T cells family member 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1342914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11916450 LAT2 linker for activation of T cells family member 2 gene DOID:5419 schizophrenia ISO RGD:1342914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11916450 LAT2 linker for activation of T cells family member 2 gene DOID:630 genetic disease ISO RGD:1342914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11916450 LAT2 linker for activation of T cells family member 2 gene DOID:8445 intestinal volvulus ISO RGD:1342914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11916450 LAT2 linker for activation of T cells family member 2 gene DOID:9000918 Disease Progression ISO RGD:1342914 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:32587277 11916450 LAT2 linker for activation of T cells family member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11916450 LAT2 linker for activation of T cells family member 2 gene DOID:9004441 Experimental Leukemia ISO RGD:1342914 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:32587277 11916450 LAT2 linker for activation of T cells family member 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1342914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11916472 RHOT2 ras homolog family member T2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1347429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 11916472 RHOT2 ras homolog family member T2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1347429 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11916472 RHOT2 ras homolog family member T2 gene DOID:1826 epilepsy ISO RGD:1347429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11916472 RHOT2 ras homolog family member T2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1347429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11916472 RHOT2 ras homolog family member T2 gene DOID:630 genetic disease ISO RGD:1347429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11916529 TMEM160 transmembrane protein 160 gene DOID:630 genetic disease ISO RGD:1606276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11916536 LOC100976049 dehydrogenase/reductase SDR family member 2, mitochondrial gene DOID:0060041 autism spectrum disorder ISO RGD:1321774 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11916536 LOC100976049 dehydrogenase/reductase SDR family member 2, mitochondrial gene DOID:0060439 lysinuric protein intolerance ISO RGD:1321774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11916536 LOC100976049 dehydrogenase/reductase SDR family member 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1321774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11916536 LOC100976049 dehydrogenase/reductase SDR family member 2, mitochondrial gene DOID:9000265 Specific Granule Deficiency ISO RGD:1321774 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11916536 LOC100976049 dehydrogenase/reductase SDR family member 2, mitochondrial gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321774 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11916557 RAB10 RAB10, member RAS oncogene family gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:735722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11916557 RAB10 RAB10, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:735722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11916567 HOXA7 homeobox A7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11916567 HOXA7 homeobox A7 gene DOID:630 genetic disease ISO RGD:1343560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11916578 NRN1L neuritin 1 like gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11916578 NRN1L neuritin 1 like gene DOID:630 genetic disease ISO RGD:1605881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11916591 CPT1C carnitine palmitoyltransferase 1C gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1313382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11916591 CPT1C carnitine palmitoyltransferase 1C gene DOID:0110818 hereditary spastic paraplegia 73 ISO RGD:1313382 D RGD:7240710 20180130 OMIM 11916591 CPT1C carnitine palmitoyltransferase 1C gene DOID:0110818 hereditary spastic paraplegia 73 ISO RGD:1313382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 73 PMID:16199547|PMID:17576681|PMID:25741868|PMID:25751282|PMID:28492532|PMID:30564185|PMID:30911584|PMID:9536098 11916591 CPT1C carnitine palmitoyltransferase 1C gene DOID:1909 melanoma ISO RGD:1313382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 11916591 CPT1C carnitine palmitoyltransferase 1C gene DOID:574 peripheral nervous system disease ISO RGD:1313382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 11916591 CPT1C carnitine palmitoyltransferase 1C gene DOID:607 paraplegia ISO RGD:1313382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868 11916591 CPT1C carnitine palmitoyltransferase 1C gene DOID:630 genetic disease ISO RGD:1313382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11916614 PNMT phenylethanolamine N-methyltransferase gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:732850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 11916614 PNMT phenylethanolamine N-methyltransferase gene DOID:10652 Alzheimer's disease onset ISO RGD:732850 D RGD:9068941 20200609 RGD DNA:snps:5' utr:g.-390G>A, g.-184G>A rs876493 (human) PMID:11378842|REF_RGD_ID:5130171 11916614 PNMT phenylethanolamine N-methyltransferase gene DOID:10763 hypertension ISO RGD:3361 D RGD:9068941 20200609 RGD protein:decreased activity:adrenal gland (rat) PMID:20378607|REF_RGD_ID:5130152 11916614 PNMT phenylethanolamine N-methyltransferase gene DOID:10763 hypertension ISO RGD:732850 D RGD:9068941 20200609 RGD DNA:snp:5' utr:g.-390G>A (human) PMID:14553966|REF_RGD_ID:5130164 11916614 PNMT phenylethanolamine N-methyltransferase gene DOID:10763 hypertension no_association ISO RGD:732850 D RGD:9068941 20200609 RGD DNA:snps:5' utr:g.-390G>A, g.-184G>A rs876493 (human) PMID:17645789|REF_RGD_ID:5130172 11916614 PNMT phenylethanolamine N-methyltransferase gene DOID:2377 multiple sclerosis ISO RGD:732850 D RGD:9068941 20200609 RGD DNA:snps:5' utr:g.-390G>A, g.-184G>A rs876493 (human) PMID:11958827|REF_RGD_ID:1358561 11916614 PNMT phenylethanolamine N-methyltransferase gene DOID:630 genetic disease ISO RGD:732850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11916614 PNMT phenylethanolamine N-methyltransferase gene DOID:9004009 Reperfusion Injury ISO RGD:732850 D RGD:9068941 20200609 RGD protein:increased expression:medulla oblongata (human) PMID:21061149|REF_RGD_ID:5128821 11916614 PNMT phenylethanolamine N-methyltransferase gene DOID:9005166 Contusions ISO RGD:3361 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland (rat) PMID:18987458|REF_RGD_ID:5129532 11916614 PNMT phenylethanolamine N-methyltransferase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3361 D RGD:9068941 20200609 RGD protein:increased expression:adrenal gland (rat) PMID:16396986|REF_RGD_ID:5130724 11916614 PNMT phenylethanolamine N-methyltransferase gene DOID:9993 hypoglycemia ISO RGD:3361 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA:decreased expression:adrenal gland (rat) PMID:15494609|REF_RGD_ID:5130725 11916624 ATP12A ATPase H+/K+ transporting non-gastric alpha2 subunit gene DOID:4500 hypokalemia ISO RGD:620569 D RGD:9068941 20200609 RGD PMID:9729517|REF_RGD_ID:13838663 11916624 ATP12A ATPase H+/K+ transporting non-gastric alpha2 subunit gene DOID:630 genetic disease ISO RGD:734042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11916624 ATP12A ATPase H+/K+ transporting non-gastric alpha2 subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11916624 ATP12A ATPase H+/K+ transporting non-gastric alpha2 subunit gene DOID:9006646 Metabolic Syndrome ISO RGD:620569 D RGD:9068941 20200609 RGD PMID:23320804|REF_RGD_ID:13838660 11916653 TMEM37 transmembrane protein 37 gene DOID:305 carcinoma ISO RGD:1606154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 11916653 TMEM37 transmembrane protein 37 gene DOID:630 genetic disease ISO RGD:1606154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11916653 TMEM37 transmembrane protein 37 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1606154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 11916664 FDX2 ferredoxin 2 gene DOID:630 genetic disease ISO RGD:1604250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28803783 11916664 FDX2 ferredoxin 2 gene DOID:699 mitochondrial myopathy ISO RGD:1604250 D RGD:7240710 20190424 OMIM 11916664 FDX2 ferredoxin 2 gene DOID:699 mitochondrial myopathy ISO RGD:1604250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial Myopathies PMID:24281368|PMID:25741868|PMID:28492532|PMID:30010796 11916664 FDX2 ferredoxin 2 gene DOID:9009081 Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy ISO RGD:1604250 D RGD:7240710 20190424 OMIM 11916664 FDX2 ferredoxin 2 gene DOID:9009081 Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy ISO RGD:1604250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY PMID:25741868|PMID:28492532 11916673 SERPINF1 serpin family F member 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1342519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11916673 SERPINF1 serpin family F member 1 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:26121037|REF_RGD_ID:27226705 11916673 SERPINF1 serpin family F member 1 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:28365916|REF_RGD_ID:27226700 11916673 SERPINF1 serpin family F member 1 gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:1342519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type III PMID:25741868|PMID:28492532|PMID:32770541 11916673 SERPINF1 serpin family F member 1 gene DOID:0110350 osteogenesis imperfecta type 6 ISO RGD:1342519 D RGD:7240710 20180130 OMIM 11916673 SERPINF1 serpin family F member 1 gene DOID:0110350 osteogenesis imperfecta type 6 ISO RGD:1342519 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 6 PMID:17576681|PMID:21353196|PMID:21826736|PMID:23054245|PMID:25565926|PMID:25741868|PMID:27056980|PMID:27796462|PMID:28116328|PMID:28492532|PMID:29150909|PMID:30968248|PMID:9536098 11916673 SERPINF1 serpin family F member 1 gene DOID:10487 Hirschsprung's disease ISO RGD:1342519 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868|PMID:28492532 11916673 SERPINF1 serpin family F member 1 gene DOID:10584 retinitis pigmentosa treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human gene in a rat model PMID:18837062|REF_RGD_ID:8554900 11916673 SERPINF1 serpin family F member 1 gene DOID:10652 Alzheimer's disease ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid, serum (human) PMID:28320113|REF_RGD_ID:27226702 11916673 SERPINF1 serpin family F member 1 gene DOID:10652 Alzheimer's disease ISO RGD:631369 D RGD:9068941 20200609 RGD PMID:17073149|REF_RGD_ID:2312353 11916673 SERPINF1 serpin family F member 1 gene DOID:1074 kidney failure ISO RGD:1342519 D RGD:9068941 20200723 RGD protein:increased expression:plasma (human) PMID:16828495|REF_RGD_ID:36174008 11916673 SERPINF1 serpin family F member 1 gene DOID:10762 portal hypertension ISO RGD:631369 D RGD:9068941 20200609 RGD protein:increased expression:gastric wall (rat) PMID:22024088|REF_RGD_ID:8655539 11916673 SERPINF1 serpin family F member 1 gene DOID:11168 anogenital venereal wart disease_progression ISO RGD:1342519 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:skin of body (human) PMID:23569025|REF_RGD_ID:27226706 11916673 SERPINF1 serpin family F member 1 gene DOID:11382 corneal neovascularization treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human gene in a rat model PMID:19596319|REF_RGD_ID:8554890 11916673 SERPINF1 serpin family F member 1 gene DOID:11446 sciatic neuropathy treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:10441236|REF_RGD_ID:8554886 11916673 SERPINF1 serpin family F member 1 gene DOID:11476 osteoporosis ISO RGD:1342519 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Osteoporosis PMID:25741868|PMID:28492532|PMID:29150909|PMID:30968248 11916673 SERPINF1 serpin family F member 1 gene DOID:11713 diabetic angiopathy ISO RGD:1342519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 11916673 SERPINF1 serpin family F member 1 gene DOID:12347 osteogenesis imperfecta ISO RGD:1342519 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:28116328|PMID:28492532|PMID:29150909|PMID:29807018|PMID:30968248|PMID:32413570|PMID:33093841 11916673 SERPINF1 serpin family F member 1 gene DOID:12986 leukostasis treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Diabetic Retinopathy; human protein in a rat model PMID:16797605|REF_RGD_ID:8554884 11916673 SERPINF1 serpin family F member 1 gene DOID:13025 retinopathy of prematurity ISO RGD:631369 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina (rat) PMID:21738387|REF_RGD_ID:8655555 11916673 SERPINF1 serpin family F member 1 gene DOID:13141 uveitis ISO RGD:1342519 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19553628 11916673 SERPINF1 serpin family F member 1 gene DOID:13141 uveitis ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor (human) PMID:16973658|REF_RGD_ID:8554887 11916673 SERPINF1 serpin family F member 1 gene DOID:13141 uveitis treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Keratitis; human protein in a rat model PMID:19553628|REF_RGD_ID:8554902 11916673 SERPINF1 serpin family F member 1 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:vitreous fluid (human) PMID:15059706|REF_RGD_ID:1580135 11916673 SERPINF1 serpin family F member 1 gene DOID:13207 proliferative diabetic retinopathy treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD PMID:11723044|REF_RGD_ID:8554895 11916673 SERPINF1 serpin family F member 1 gene DOID:13514 venous tributary occlusion of retina ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:decreased expression:vitreous humor (human) PMID:20714746|REF_RGD_ID:8554903 11916673 SERPINF1 serpin family F member 1 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:27748324|REF_RGD_ID:27226704 11916673 SERPINF1 serpin family F member 1 gene DOID:14115 toxic shock syndrome severity ISO RGD:1342519 D RGD:9068941 20200723 RGD protein:decreased expression:plasma (human) PMID:6158114|REF_RGD_ID:36174004 11916673 SERPINF1 serpin family F member 1 gene DOID:14330 Parkinson's disease severity ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:serum, extracellular exosome (human) PMID:31593110|REF_RGD_ID:27226691 11916673 SERPINF1 serpin family F member 1 gene DOID:1727 retinal vein occlusion ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:decreased expression:vitreous humor (human) PMID:21275514|REF_RGD_ID:8554901 11916673 SERPINF1 serpin family F member 1 gene DOID:2154 nephroblastoma ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:16863836|REF_RGD_ID:2312354 11916673 SERPINF1 serpin family F member 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human gene in a rat model PMID:18624913|REF_RGD_ID:8613878 11916673 SERPINF1 serpin family F member 1 gene DOID:2450 central retinal vein occlusion ISO RGD:631369 D RGD:9068941 20200609 RGD protein:increased expression:neuroretina (rat) PMID:21487926|REF_RGD_ID:5490120 11916673 SERPINF1 serpin family F member 1 gene DOID:289 endometriosis ISO RGD:631369 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium (rat) PMID:22975116|REF_RGD_ID:8638001 11916673 SERPINF1 serpin family F member 1 gene DOID:289 endometriosis treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a rat model PMID:23466670|REF_RGD_ID:8590225 11916673 SERPINF1 serpin family F member 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:12067231|REF_RGD_ID:8554892 11916673 SERPINF1 serpin family F member 1 gene DOID:3347 osteosarcoma treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human gene in rat model PMID:17479108|REF_RGD_ID:8633656 11916673 SERPINF1 serpin family F member 1 gene DOID:3347 osteosarcoma treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:17458711|REF_RGD_ID:8655561 11916673 SERPINF1 serpin family F member 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:631369 D RGD:9068941 20200609 RGD PMID:22714093|REF_RGD_ID:8655545 11916673 SERPINF1 serpin family F member 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:serum, pleural effusion (human) PMID:20230924|REF_RGD_ID:27226710 11916673 SERPINF1 serpin family F member 1 gene DOID:4448 macular degeneration ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:decreased expression:optic choroid (human) PMID:16019000|REF_RGD_ID:8554867 11916673 SERPINF1 serpin family F member 1 gene DOID:4448 macular degeneration ISO RGD:631369 D RGD:9068941 20200609 RGD mRNA:altered expression:retina (rat) PMID:21191149|REF_RGD_ID:8655542 11916673 SERPINF1 serpin family F member 1 gene DOID:4449 macular retinal edema ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Branch Retinal Vein Occlusion;protein:decreased expression:vitreous humor (human) PMID:20714746|REF_RGD_ID:8554903 11916673 SERPINF1 serpin family F member 1 gene DOID:4449 macular retinal edema treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; human protein in a rat model PMID:21139695|REF_RGD_ID:8655546 11916673 SERPINF1 serpin family F member 1 gene DOID:4724 brain edema treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:17692294|REF_RGD_ID:8554891 11916673 SERPINF1 serpin family F member 1 gene DOID:5052 melioidosis ISO RGD:1342519 D RGD:9068941 20200723 RGD protein:increased expression:plasma (human) PMID:23992406|PMID:25370187|REF_RGD_ID:36174010|REF_RGD_ID:36174011 11916673 SERPINF1 serpin family F member 1 gene DOID:5052 melioidosis severity ISO RGD:1332124 D RGD:9068941 20200723 RGD PMID:23992406|REF_RGD_ID:36174010 11916673 SERPINF1 serpin family F member 1 gene DOID:5425 ovarian hyperstimulation syndrome treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:23295464|REF_RGD_ID:8635395 11916673 SERPINF1 serpin family F member 1 gene DOID:6039 uveal melanoma severity ISO RGD:1332124 D RGD:9068941 20200609 RGD PMID:23793989|REF_RGD_ID:8554893 11916673 SERPINF1 serpin family F member 1 gene DOID:630 genetic disease ISO RGD:1342519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11916673 SERPINF1 serpin family F member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Human Viral Hepatitis, liver cirrhosis;protein:increased expression:serum (human) PMID:27748324|REF_RGD_ID:27226704 11916673 SERPINF1 serpin family F member 1 gene DOID:768 retinoblastoma treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein and tumor xenograft in a mouse model PMID:19832843|REF_RGD_ID:8554870 11916673 SERPINF1 serpin family F member 1 gene DOID:8463 corneal ulcer ISO RGD:1342519 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19553628 11916673 SERPINF1 serpin family F member 1 gene DOID:8466 retinal degeneration treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:10600408|REF_RGD_ID:8554889 11916673 SERPINF1 serpin family F member 1 gene DOID:8544 chronic fatigue syndrome ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:16321154|REF_RGD_ID:28867246 11916673 SERPINF1 serpin family F member 1 gene DOID:8947 diabetic retinopathy ISO RGD:1332124 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:vitreous humor PMID:18025835|REF_RGD_ID:2312344 11916673 SERPINF1 serpin family F member 1 gene DOID:8947 diabetic retinopathy ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum PMID:18455830|REF_RGD_ID:2312341 11916673 SERPINF1 serpin family F member 1 gene DOID:8947 diabetic retinopathy ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNPs:promoter:g.-5740T>C, g.-5308G>A (rs12150053, rs12948385) (human) PMID:17658465|REF_RGD_ID:2312346 11916673 SERPINF1 serpin family F member 1 gene DOID:8947 diabetic retinopathy ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:alternative form:vitreous humor PMID:19365032|REF_RGD_ID:2312337 11916673 SERPINF1 serpin family F member 1 gene DOID:8947 diabetic retinopathy ISO RGD:631369 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:retina PMID:16054135|REF_RGD_ID:2312348 11916673 SERPINF1 serpin family F member 1 gene DOID:8947 diabetic retinopathy severity ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor PMID:15059706|REF_RGD_ID:1580135 11916673 SERPINF1 serpin family F member 1 gene DOID:9000058 Keloid ISO RGD:1342519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 11916673 SERPINF1 serpin family F member 1 gene DOID:9000058 Keloid ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:skin of body (human) PMID:20128793|REF_RGD_ID:27226709 11916673 SERPINF1 serpin family F member 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:15313905|REF_RGD_ID:2312355 11916673 SERPINF1 serpin family F member 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:631369 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:15313905|REF_RGD_ID:2312355 11916673 SERPINF1 serpin family F member 1 gene DOID:9000998 Brain Injuries ISO RGD:631369 D RGD:9068941 20200609 RGD protein:altered expression:cerebellum (rat) PMID:17709187|REF_RGD_ID:8622925 11916673 SERPINF1 serpin family F member 1 gene DOID:9000998 Brain Injuries treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human gene in a rat model PMID:20142768|REF_RGD_ID:8612994 11916673 SERPINF1 serpin family F member 1 gene DOID:9001044 Choroidal Neovascularization ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor (human) PMID:16490490|REF_RGD_ID:8554883 11916673 SERPINF1 serpin family F member 1 gene DOID:9001044 Choroidal Neovascularization ISO RGD:631369 D RGD:9068941 20200609 RGD PMID:15312607|REF_RGD_ID:2312356 11916673 SERPINF1 serpin family F member 1 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:11424092|PMID:12037010|PMID:19778186|REF_RGD_ID:27226711|REF_RGD_ID:28867245|REF_RGD_ID:8554866 11916673 SERPINF1 serpin family F member 1 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a rat model PMID:19850839|REF_RGD_ID:8655557 11916673 SERPINF1 serpin family F member 1 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:631369 D RGD:9068941 20200609 RGD mRNA:increased expression:pelvic ganglion (rat) PMID:22300381|REF_RGD_ID:7241556 11916673 SERPINF1 serpin family F member 1 gene DOID:9001542 Albuminuria treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; human gene in a rat model PMID:16731830|REF_RGD_ID:8554875 11916673 SERPINF1 serpin family F member 1 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:16822505|REF_RGD_ID:8554871 11916673 SERPINF1 serpin family F member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma (human) PMID:18523656|REF_RGD_ID:8554896 11916673 SERPINF1 serpin family F member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:631369 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:renal cortex, renal medulla (rat) PMID:15616035|REF_RGD_ID:1359799 11916673 SERPINF1 serpin family F member 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:23884140|REF_RGD_ID:8554865 11916673 SERPINF1 serpin family F member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1342519 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21671747 11916673 SERPINF1 serpin family F member 1 gene DOID:9002304 Prostatic Neoplasms treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human gene in a rat model PMID:20360944|REF_RGD_ID:8593319 11916673 SERPINF1 serpin family F member 1 gene DOID:9002669 Hypoxia ISO RGD:631369 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:retina (rat) PMID:18331686|REF_RGD_ID:8655558 11916673 SERPINF1 serpin family F member 1 gene DOID:9002909 Oxygen-Induced Retinopathy susceptibility ISO RGD:631369 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:retina (rat) PMID:11916948|REF_RGD_ID:8655544 11916673 SERPINF1 serpin family F member 1 gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:21281801|REF_RGD_ID:8554878 11916673 SERPINF1 serpin family F member 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1342519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11916673 SERPINF1 serpin family F member 1 gene DOID:9003646 Arterial Thrombosis treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a rat model PMID:17850801|REF_RGD_ID:8655540 11916673 SERPINF1 serpin family F member 1 gene DOID:9004042 Olfaction Disorders ISO RGD:631369 D RGD:9068941 20200609 RGD mRNA:decreased expression:olfactory bulb (rat) PMID:23825416|REF_RGD_ID:8655547 11916673 SERPINF1 serpin family F member 1 gene DOID:9004332 Osteoarthritis, Experimental severity ISO RGD:1332124 D RGD:9068941 20200609 RGD PMID:28122611|REF_RGD_ID:27226703 11916673 SERPINF1 serpin family F member 1 gene DOID:9005372 Inflammation ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Diabetic Nephropathy PMID:18322021|REF_RGD_ID:2312342 11916673 SERPINF1 serpin family F member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:631369 D RGD:9068941 20200609 RGD protein:decreased expression:platelet PMID:19237211|REF_RGD_ID:2312338 11916673 SERPINF1 serpin family F member 1 gene DOID:9005930 Endotoxemia ISO RGD:1342519 D RGD:9068941 20200723 RGD protein:increased expression:plasma (human) PMID:12386642|REF_RGD_ID:36174005 11916673 SERPINF1 serpin family F member 1 gene DOID:9005966 Staphylococcal Skin Infections severity ISO RGD:1332124 D RGD:9068941 20200723 RGD PMID:25515118|REF_RGD_ID:36174009 11916673 SERPINF1 serpin family F member 1 gene DOID:9006182 Carotid Artery Injuries treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human gene in a rat model PMID:17525281|REF_RGD_ID:8618841 11916673 SERPINF1 serpin family F member 1 gene DOID:9006550 hepatosplenic schistosomiasis ISO RGD:1342519 D RGD:9068941 20200613 RGD PMID:9038736|REF_RGD_ID:30296660 11916673 SERPINF1 serpin family F member 1 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:631369 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:18996124|REF_RGD_ID:2312349 11916673 SERPINF1 serpin family F member 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1342519 D RGD:9068941 20200611 RGD associated with chronic kidney disease;protein:increased expression:blood (human) PMID:11045282|REF_RGD_ID:30296653 11916673 SERPINF1 serpin family F member 1 gene DOID:9007367 Septic Peritonitis ISO RGD:1342519 D RGD:9068941 20200613 RGD protein:increased expression:peritoneal fluid (human) PMID:8869327|REF_RGD_ID:30296661 11916673 SERPINF1 serpin family F member 1 gene DOID:9007692 Insulin Resistance ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Hypertension PMID:19073347|REF_RGD_ID:2312339 11916673 SERPINF1 serpin family F member 1 gene DOID:9007692 Insulin Resistance ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a rat model PMID:22714715|REF_RGD_ID:8655563 11916673 SERPINF1 serpin family F member 1 gene DOID:9007692 Insulin Resistance treatment ISO RGD:631369 D RGD:9068941 20200609 RGD PMID:24288442|REF_RGD_ID:8642993 11916673 SERPINF1 serpin family F member 1 gene DOID:9007748 Retinal Neovascularization treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Oxygen-Induced Retinopathy; human protein in a mouse model PMID:11867604|REF_RGD_ID:8554881 11916673 SERPINF1 serpin family F member 1 gene DOID:9007835 Sickle Cell Retinopathy ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:retinal blood vessels (human) PMID:12957143|REF_RGD_ID:8554869 11916673 SERPINF1 serpin family F member 1 gene DOID:9008609 Endotoxin-Induced Uveitis ISO RGD:631369 D RGD:9068941 20200609 RGD protein:decreased expression:retina, plasma (rat) PMID:16368716|REF_RGD_ID:1580133 11916673 SERPINF1 serpin family F member 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1342519 D RGD:9068941 20220909 RGD PMID:23393224|REF_RGD_ID:153350137 11916673 SERPINF1 serpin family F member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18715664|REF_RGD_ID:2312340 11916673 SERPINF1 serpin family F member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:631369 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:17653050|REF_RGD_ID:8554888 11916673 SERPINF1 serpin family F member 1 gene DOID:9352 type 2 diabetes mellitus severity ISO RGD:631369 D RGD:9068941 20200609 RGD PMID:24530621|REF_RGD_ID:8655541 11916673 SERPINF1 serpin family F member 1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a rat model PMID:24530621|REF_RGD_ID:8655541 11916673 SERPINF1 serpin family F member 1 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:1342519 D RGD:9068941 20200723 RGD protein:increased expression:plasma (human) PMID:18939350|REF_RGD_ID:36174007 11916673 SERPINF1 serpin family F member 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17971181|REF_RGD_ID:2312345 11916673 SERPINF1 serpin family F member 1 gene DOID:9970 obesity ISO RGD:1342519 D RGD:9068941 20200609 RGD PMID:17491674|REF_RGD_ID:2312347 11916673 SERPINF1 serpin family F member 1 gene DOID:9970 obesity ISO RGD:631369 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:24424059|REF_RGD_ID:8633067 11916695 LOC100982214 plasminogen gene DOID:0060903 thrombosis ISO RGD:1343043 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombus PMID:25741868|PMID:28492532|PMID:34355501 11916695 LOC100982214 plasminogen gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1343043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868|PMID:28492532 11916695 LOC100982214 plasminogen gene DOID:0080600 COVID-19 treatment ISO RGD:1343043 D RGD:9068941 20200619 RGD PMID:32275753|REF_RGD_ID:30309215 11916695 LOC100982214 plasminogen gene DOID:0080940 hereditary angioedema type III ISO RGD:1343043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HAE WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION PMID:33114181 11916695 LOC100982214 plasminogen gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1343043 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 11916695 LOC100982214 plasminogen gene DOID:0111592 plasminogen deficiency type I ISO RGD:1343043 D RGD:7240710 20180130 OMIM 11916695 LOC100982214 plasminogen gene DOID:0111592 plasminogen deficiency type I ISO RGD:1343043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dysplasminogenemia | ClinVar Annotator: match by term: Plasminogen deficiency, type I PMID:10233898|PMID:12850227|PMID:12876630|PMID:12945885|PMID:1427790|PMID:15269832|PMID:16849641|PMID:17576681|PMID:1986355|PMID:20981092|PMID:22995991|PMID:2362977|PMID:23629776|PMID:25741868|PMID:26340456|PMID:2797673|PMID:27976734|PMID:28492532|PMID:30487145|PMID:31064749|PMID:31589614|PMID:31980526|PMID:34355501|PMID:6216475|PMID:6238949|PMID:659588|PMID:8392398|PMID:9242524|PMID:9375744|PMID:9536098|PMID:9834305|PMID:9858247 11916695 LOC100982214 plasminogen gene DOID:10159 osteonecrosis ISO RGD:1343043 D RGD:9068941 20200702 RGD associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human) PMID:16547717|PMID:16677567|REF_RGD_ID:30309948|REF_RGD_ID:30309951 11916695 LOC100982214 plasminogen gene DOID:10754 otitis media ISO RGD:1343043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Otitis media, susceptibility to PMID:10233898|PMID:12850227|PMID:12876630|PMID:15269832|PMID:16849641|PMID:20981092|PMID:22995991|PMID:2362977|PMID:23629776|PMID:25741868|PMID:26340456|PMID:2797673|PMID:27976734|PMID:28492532|PMID:30487145|PMID:31064749|PMID:31589614|PMID:31980526|PMID:34355501 11916695 LOC100982214 plasminogen gene DOID:10763 hypertension ISO RGD:1343043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6383834 11916695 LOC100982214 plasminogen gene DOID:14735 hereditary angioedema ISO RGD:1343043 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary angioneurotic edema PMID:25741868|PMID:28492532|PMID:28795768|PMID:29548426|PMID:29952006|PMID:29987869|PMID:33799813|PMID:35100351 11916695 LOC100982214 plasminogen gene DOID:1485 cystic fibrosis ISO RGD:1343043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:17900274|PMID:18566672|PMID:28117099|PMID:9504411 11916695 LOC100982214 plasminogen gene DOID:2213 hemorrhagic disease ISO RGD:1343043 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532|PMID:34355501 11916695 LOC100982214 plasminogen gene DOID:2452 thrombophilia ISO RGD:1343043 D RGD:9068941 20200609 RGD DNA:point mutation:exon:S572P PMID:8392398|REF_RGD_ID:1601404 11916695 LOC100982214 plasminogen gene DOID:2945 severe acute respiratory syndrome ISO RGD:1550861 D RGD:9068941 20200625 RGD protein:increased expression:lung (mouse) PMID:23919993|REF_RGD_ID:30310231 11916695 LOC100982214 plasminogen gene DOID:3021 acute kidney failure ISO RGD:1343043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 11916695 LOC100982214 plasminogen gene DOID:3490 Noonan syndrome ISO RGD:1343043 D RGD:9068941 20200609 RGD protein:decreased activity:blood: PMID:20686427|REF_RGD_ID:13207331 11916695 LOC100982214 plasminogen gene DOID:6195 conjunctivitis ISO RGD:1343043 D RGD:9068941 20200609 RGD ligneous conjunctivitis,OMIM:217090;DNA:point mutation:exon:R216H,W597X PMID:9242524|REF_RGD_ID:1601405 11916695 LOC100982214 plasminogen gene DOID:630 genetic disease ISO RGD:1343043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11916695 LOC100982214 plasminogen gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343043 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14716496 11916695 LOC100982214 plasminogen gene DOID:9003871 Venous Thrombosis ISO RGD:1343043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:10233898|PMID:12850227|PMID:12876630|PMID:15269832|PMID:16849641|PMID:20981092|PMID:22995991|PMID:2362977|PMID:23629776|PMID:25741868|PMID:26340456|PMID:2797673|PMID:27976734|PMID:28492532|PMID:30487145|PMID:31064749|PMID:31589614|PMID:31980526|PMID:34355501 11916695 LOC100982214 plasminogen gene DOID:9004968 Yin Deficiency ISO RGD:619893 D RGD:9068941 20220915 RGD protein:decreased expression:serum PMID:29729385|REF_RGD_ID:153350148 11916695 LOC100982214 plasminogen gene DOID:9005017 Hereditary Angioedema 4 ISO RGD:1343043 D RGD:7240710 20210616 OMIM 11916695 LOC100982214 plasminogen gene DOID:9005017 Hereditary Angioedema 4 ISO RGD:1343043 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Angioedema, hereditary, 4 PMID:25741868|PMID:28492532|PMID:28795768|PMID:29548426|PMID:29952006|PMID:29987869|PMID:33114181|PMID:33799813|PMID:35100351 11916695 LOC100982214 plasminogen gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1343043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 11916695 LOC100982214 plasminogen gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1343043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22507835 11916695 LOC100982214 plasminogen gene DOID:9500 leukocyte disease ISO RGD:1343043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30213540 11916726 MGST2 microsomal glutathione S-transferase 2 gene DOID:630 genetic disease ISO RGD:1322562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11916746 PRMT7 protein arginine methyltransferase 7 gene DOID:0050581 brachydactyly ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 11916746 PRMT7 protein arginine methyltransferase 7 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1601867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11916746 PRMT7 protein arginine methyltransferase 7 gene DOID:0080006 bone development disease ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 11916746 PRMT7 protein arginine methyltransferase 7 gene DOID:0080204 renal hypoplasia ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal hypoplasia PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 11916746 PRMT7 protein arginine methyltransferase 7 gene DOID:1059 intellectual disability ISO RGD:1601867 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:28492532 11916746 PRMT7 protein arginine methyltransferase 7 gene DOID:1059 intellectual disability ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 11916746 PRMT7 protein arginine methyltransferase 7 gene DOID:1168 familial hyperlipidemia ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperlipidemia PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 11916746 PRMT7 protein arginine methyltransferase 7 gene DOID:3138 acanthosis nigricans ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acanthosis nigricans PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 11916746 PRMT7 protein arginine methyltransferase 7 gene DOID:630 genetic disease ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 11916746 PRMT7 protein arginine methyltransferase 7 gene DOID:9001793 Generalized Epilepsy ISO RGD:1601867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 11916746 PRMT7 protein arginine methyltransferase 7 gene DOID:9002745 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures ISO RGD:1601867 D RGD:7240710 20190315 OMIM 11916746 PRMT7 protein arginine methyltransferase 7 gene DOID:9002745 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature, brachydactyly, intellectual developmental disability, and seizures PMID:16199547|PMID:25741868|PMID:2643702|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392|PMID:34244600 11916746 PRMT7 protein arginine methyltransferase 7 gene DOID:9003808 Progressive Myoclonus Epilepsy 12 ISO RGD:1601867 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 12 PMID:25741868|PMID:33085104 11916746 PRMT7 protein arginine methyltransferase 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:16199547|PMID:25741868|PMID:2643702|PMID:26437029|PMID:27718516|PMID:28492532 11916746 PRMT7 protein arginine methyltransferase 7 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1601867 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Generalized myoclonic seizures PMID:25741868|PMID:33085104 11916746 PRMT7 protein arginine methyltransferase 7 gene DOID:9007661 Dwarfism ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 11916746 PRMT7 protein arginine methyltransferase 7 gene DOID:9007692 Insulin Resistance ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Insulin resistance PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 11916746 PRMT7 protein arginine methyltransferase 7 gene DOID:9970 obesity ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 11916813 DNAH6 dynein axonemal heavy chain 6 gene DOID:0050545 visceral heterotaxy ISO RGD:1347757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Situs ambiguus 11916813 DNAH6 dynein axonemal heavy chain 6 gene DOID:12858 Huntington's disease treatment ISO RGD:1551162 D RGD:9068941 20200609 RGD PMID:24282028|REF_RGD_ID:13432158 11916813 DNAH6 dynein axonemal heavy chain 6 gene DOID:5426 primary ovarian insufficiency ISO RGD:1347757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11916813 DNAH6 dynein axonemal heavy chain 6 gene DOID:630 genetic disease ISO RGD:1347757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11916813 DNAH6 dynein axonemal heavy chain 6 gene DOID:758 situs inversus ISO RGD:1347757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence 11916894 ZNF169 zinc finger protein 169 gene DOID:12642 hiatus hernia ISO RGD:1312178 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Hiatus hernia 11916894 ZNF169 zinc finger protein 169 gene DOID:630 genetic disease ISO RGD:1312178 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11916894 ZNF169 zinc finger protein 169 gene DOID:9970 obesity ISO RGD:1312178 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 11916915 MICAL3 microtubule associated monooxygenase, calponin and LIM domain containing 3 gene DOID:0080482 peroxisome biogenesis disorder 7A ISO RGD:1603016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A (Zellweger) PMID:28492532 11916915 MICAL3 microtubule associated monooxygenase, calponin and LIM domain containing 3 gene DOID:0111996 immunodeficiency 51 ISO RGD:1603016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11916915 MICAL3 microtubule associated monooxygenase, calponin and LIM domain containing 3 gene DOID:11198 DiGeorge syndrome ISO RGD:1603016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 11916915 MICAL3 microtubule associated monooxygenase, calponin and LIM domain containing 3 gene DOID:630 genetic disease ISO RGD:1603016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11916915 MICAL3 microtubule associated monooxygenase, calponin and LIM domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11916915 MICAL3 microtubule associated monooxygenase, calponin and LIM domain containing 3 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1603016 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11916950 ADAM23 ADAM metallopeptidase domain 23 gene DOID:14557 primary pulmonary hypertension ISO RGD:1313949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11916950 ADAM23 ADAM metallopeptidase domain 23 gene DOID:630 genetic disease ISO RGD:1313949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11916950 ADAM23 ADAM metallopeptidase domain 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11916985 BEX2 brain expressed X-linked 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11916985 BEX2 brain expressed X-linked 2 gene DOID:12849 autistic disorder ISO RGD:1353223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11916985 BEX2 brain expressed X-linked 2 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1353223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:31690835 11916985 BEX2 brain expressed X-linked 2 gene DOID:630 genetic disease ISO RGD:1353223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11916998 MAPK1IP1L mitogen-activated protein kinase 1 interacting protein 1 like gene DOID:630 genetic disease ISO RGD:1322925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917007 MUC15 mucin 15, cell surface associated gene DOID:1059 intellectual disability ISO RGD:1351658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11917007 MUC15 mucin 15, cell surface associated gene DOID:543 dystonia ISO RGD:1351658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:17576681|PMID:28492532|PMID:9536098 11917007 MUC15 mucin 15, cell surface associated gene DOID:630 genetic disease ISO RGD:1351658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917019 RPS27 ribosomal protein S27 gene DOID:0070048 GAND syndrome ISO RGD:732460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GAND SYNDROME PMID:21681106 11917019 RPS27 ribosomal protein S27 gene DOID:0111880 Diamond-Blackfan anemia 17 ISO RGD:732460 D RGD:7240710 20190315 OMIM 11917019 RPS27 ribosomal protein S27 gene DOID:0111880 Diamond-Blackfan anemia 17 ISO RGD:732460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 17 PMID:25424902|PMID:25741868 11917019 RPS27 ribosomal protein S27 gene DOID:0111940 immunodeficiency 42 ISO RGD:732460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11917019 RPS27 ribosomal protein S27 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11917019 RPS27 ribosomal protein S27 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732460 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 11917019 RPS27 ribosomal protein S27 gene DOID:1540 parathyroid carcinoma ISO RGD:732460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11917019 RPS27 ribosomal protein S27 gene DOID:5812 MHC class II deficiency ISO RGD:732460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11917019 RPS27 ribosomal protein S27 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11917028 RGS6 regulator of G protein signaling 6 gene DOID:630 genetic disease ISO RGD:736970 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0050451 Brugada syndrome ISO RGD:1353354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:25741868|PMID:27871843|PMID:28492532 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0050650 familial atrial fibrillation ISO RGD:1353354 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial atrial fibrillation PMID:17470695|PMID:17576681|PMID:19716085|PMID:19841300|PMID:21185501|PMID:22199116|PMID:22378279|PMID:22581653|PMID:22949429|PMID:23571586|PMID:24033266|PMID:24190995|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25854863|PMID:25985138|PMID:26159999|PMID:26318259|PMID:28492532|PMID:28988457|PMID:29197658|PMID:30615648|PMID:31696929|PMID:31737537|PMID:34398675|PMID:9536098 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0050700 cardiomyopathy ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:14661677|PMID:14678125|PMID:16556865|PMID:17161064|PMID:17210839|PMID:17470695|PMID:19841300|PMID:19862833|PMID:21185501|PMID:22581653|PMID:22677073|PMID:22949429|PMID:23571586|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:28492532 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0050793 short QT syndrome ISO RGD:1353354 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Short QT syndrome PMID:11278406|PMID:15051636|PMID:15159330|PMID:17470695|PMID:17576681|PMID:19716085|PMID:19841300|PMID:20436212|PMID:21185501|PMID:22199116|PMID:22378279|PMID:22581653|PMID:22949429|PMID:23571586|PMID:24033266|PMID:24190995|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25854863|PMID:25985138|PMID:26159999|PMID:26318259|PMID:28492532|PMID:28988457|PMID:29197658|PMID:30615648|PMID:31696929|PMID:31737537|PMID:34398675|PMID:9536098 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0060224 atrial fibrillation ISO RGD:1353354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:12522251|PMID:15368194|PMID:16109388|PMID:17467630|PMID:17997361|PMID:17999538|PMID:18599533|PMID:19632626|PMID:20421371|PMID:21224508|PMID:22250012|PMID:22508963|PMID:22581653|PMID:23375927|PMID:24006450|PMID:24818999|PMID:25444851|PMID:25974115|PMID:28383569|PMID:28492532 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0070297 primary microcephaly ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:15781747|PMID:15840476|PMID:19716085|PMID:19841300|PMID:22581653|PMID:22949429|PMID:23392653|PMID:23631430|PMID:24033266|PMID:24947509|PMID:25741868|PMID:25854863|PMID:26546361|PMID:26669661|PMID:27831900|PMID:28492532|PMID:30755392|PMID:31447099 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0080600 COVID-19 ISO RGD:1353354 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1353354 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:1353354 D RGD:7240710 20230517 OMIM 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Long QT syndrome 1, recessive | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10024302|PMID:10086971|PMID:10090529|PMID:10090886|PMID:10220144|PMID:10220146|PMID:10367071|PMID:10376919|PMID:10409658|PMID:10477533|PMID:10482963|PMID:10483966|PMID:10508236|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10868744|PMID:10874277|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11278406|PMID:11351021|PMID:11410559|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11684219|PMID:11761407|PMID:11799244|PMID:11997281|PMID:12037327|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12205790|PMID:12388934|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12690509|PMID:12702160|PMID:12710526|PMID:12736279|PMID:12820704|PMID:12877697|PMID:1346223|PMID:14510661|PMID:14531214|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14756674|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15528464|PMID:15547041|PMID:15635208|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16039274|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16246960|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16623272|PMID:16627448|PMID:16818214|PMID:16831322|PMID:16922724|PMID:16931984|PMID:16937190|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17053194|PMID:17088455|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17224687|PMID:17329207|PMID:17329209|PMID:17467628|PMID:17470695|PMID:17482572|PMID:17576681|PMID:17597962|PMID:17698596|PMID:17905336|PMID:17984373|PMID:17999538|PMID:18004376|PMID:18079560|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18308161|PMID:18400097|PMID:18426444|PMID:18452873|PMID:18464931|PMID:18580685|PMID:18596570|PMID:18611041|PMID:18713323|PMID:18752142|PMID:18774102|PMID:19008479|PMID:19114714|PMID:19124472|PMID:19160088|PMID:19261104|PMID:19322600|PMID:19348785|PMID:19490272|PMID:19540844|PMID:19549851|PMID:19590188|PMID:19632626|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19934648|PMID:19959132|PMID:20031635|PMID:20044973|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20196769|PMID:20226272|PMID:20348026|PMID:20368164|PMID:20403459|PMID:20421371|PMID:20479111|PMID:20486126|PMID:20487114|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20662986|PMID:20833965|PMID:20850564|PMID:20851114|PMID:20960614|PMID:20981092|PMID:21059661|PMID:21063070|PMID:21070882|PMID:21118729|PMID:21129503|PMID:21131640|PMID:21185501|PMID:21215473|PMID:21241800|PMID:21241880|PMID:21350584|PMID:21451124|PMID:21482651|PMID:21499742|PMID:21511995|PMID:21576493|PMID:21635612|PMID:21778721|PMID:21779290|PMID:21810471|PMID:21854832|PMID:21895724|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22293141|PMID:22309168|PMID:22373669|PMID:22378279|PMID:22429796|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22613981|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22739119|PMID:22882672|PMID:22885918|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23000022|PMID:23075154|PMID:23092362|PMID:23098067|PMID:23123674|PMID:23124029|PMID:23130128|PMID:23139254|PMID:23153844|PMID:23158531|PMID:23174487|PMID:23193492|PMID:23251633|PMID:23271449|PMID:23291057|PMID:23304551|PMID:23324056|PMID:23350853|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23788249|PMID:23844633|PMID:23851063|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23935525|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24080067|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24217263|PMID:24218437|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24373870|PMID:24388587|PMID:24552659|PMID:24606995|PMID:24631775 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Long QT syndrome 1, recessive | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:24665220|PMID:24666684|PMID:24667783|PMID:24681627|PMID:24689698|PMID:24705789|PMID:24713462|PMID:24721657|PMID:24762593|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25028166|PMID:25037568|PMID:25087618|PMID:25119684|PMID:25139741|PMID:25187895|PMID:25192979|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25444851|PMID:25453094|PMID:25467552|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25634836|PMID:25637381|PMID:25645639|PMID:25649125|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25804018|PMID:25825456|PMID:25845942|PMID:25854863|PMID:25916402|PMID:25929701|PMID:25935074|PMID:25956966|PMID:25985138|PMID:25991456|PMID:26019114|PMID:26022593|PMID:26063740|PMID:26066609|PMID:26077850|PMID:26118460|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26228265|PMID:26318259|PMID:26344792|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26813553|PMID:26937405|PMID:27000522|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27114410|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27311732|PMID:27325960|PMID:27332903|PMID:27379800|PMID:27451284|PMID:27470144|PMID:27479201|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27707468|PMID:27761162|PMID:27807201|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27884173|PMID:27917693|PMID:27920829|PMID:27921062|PMID:28012188|PMID:28212739|PMID:28217227|PMID:28249770|PMID:28264985|PMID:28302345|PMID:28341588|PMID:28360401|PMID:28438721|PMID:28449774|PMID:28491751|PMID:28491806|PMID:28492532|PMID:28518168|PMID:28532774|PMID:28566242|PMID:28575668|PMID:28588847|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28739325|PMID:28749187|PMID:28749435|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29033053|PMID:29037160|PMID:29167462|PMID:29194874|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29255176|PMID:29372044|PMID:29379719|PMID:29401425|PMID:29439887|PMID:29447731|PMID:29449639|PMID:29451064|PMID:29497013|PMID:29532034|PMID:29544605|PMID:29598884|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29677589|PMID:29740400|PMID:29790872|PMID:29857160|PMID:29876285|PMID:29922582|PMID:29925740|PMID:29952348|PMID:30008122|PMID:30079003|PMID:30122538|PMID:30291343|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30530868|PMID:30571187|PMID:30591322|PMID:30609406|PMID:30615648|PMID:30755392|PMID:30847666|PMID:30935642|PMID:30974404|PMID:31009818|PMID:31019283|PMID:31043699|PMID:31226583|PMID:31315195|PMID:31395126|PMID:31424047|PMID:31427586|PMID:31447099|PMID:31484877|PMID:31589614|PMID:31638414|PMID:31696929|PMID:31729605|PMID:31737537|PMID:31883792|PMID:31899541|PMID:31980526|PMID:31994352|PMID:32009526|PMID:32048431|PMID:32168391|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32470535|PMID:32508908|PMID:32686758|PMID:32695137|PMID:32797034|PMID:32893267|PMID:32936022|PMID:33087929|PMID:33181513|PMID:33256261|PMID:33484326|PMID:33498651|PMID:33600800|PMID:33664273|PMID:33693037|PMID:33777698|PMID:33876311|PMID:34135346|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34426522|PMID:34428338|PMID:34505893|PMID:34691145|PMID:34697415|PMID:34884666|PMID:35442947|PMID:35535697|PMID:36102233|PMID:36197721|PMID:8487283|PMID:8528244|PMID:8818942|PMID:8872472|PMID:9020846|PMID:9024139|PMID:9302275|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9570196|PMID:9641694|PMID:9654228|PMID:9693036|PMID:9702906|PMID:9781056|PMID:9799083|PMID:9927399 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0110645 long QT syndrome 2 ISO RGD:1353354 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:10477533|PMID:10973849|PMID:17576681|PMID:19716085|PMID:21810471|PMID:22629021|PMID:25741868|PMID:27485560|PMID:28492532|PMID:29255176|PMID:29857160|PMID:31589614|PMID:31737537|PMID:9536098|PMID:9570196|PMID:9654228 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0111449 progressive myoclonus epilepsy 6 ISO RGD:1353354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 6 PMID:25326637|PMID:25741868|PMID:28492532 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:10763 hypertension ISO RGD:621503 D RGD:9068941 20200609 RGD DNA:deletion:exon (rat) PMID:16368876|REF_RGD_ID:1581602 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:10907 microcephaly ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital microcephaly PMID:15781747|PMID:15840476|PMID:19716085|PMID:19841300|PMID:22581653|PMID:22949429|PMID:23392653|PMID:23631430|PMID:24033266|PMID:24947509|PMID:25741868|PMID:25854863|PMID:26546361|PMID:26669661|PMID:27831900|PMID:28492532|PMID:30755392|PMID:31447099 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1353354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:19716085|PMID:22581653|PMID:23396983|PMID:24033266|PMID:24055113|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26332594|PMID:28492532|PMID:28794082|PMID:29197658|PMID:30571187 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:14323 Marfan syndrome ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:21459285|PMID:22581653|PMID:25741868 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2842 Jervell-Lange Nielsen syndrome ISO RGD:1353354 D RGD:7240710 20230517 OMIM 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2842 Jervell-Lange Nielsen syndrome ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome | ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1 | ClinVar Annotator: match by term: Jervell-Lange Nielsen syndrome | ClinVar Annotator: match by term: Surdo-cardiac syndrome PMID:10024302|PMID:10077519|PMID:10090886|PMID:10367071|PMID:10409658|PMID:10482963|PMID:10483966|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10973849|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11761407|PMID:11799244|PMID:11997281|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12402336|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12690509|PMID:12702160|PMID:12736279|PMID:12877697|PMID:1346223|PMID:14510661|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15500450|PMID:15528464|PMID:15547041|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16039274|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16818214|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17329207|PMID:17329209|PMID:17467628|PMID:17470695|PMID:17576681|PMID:17597962|PMID:17905336|PMID:17999538|PMID:18004376|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18426444|PMID:18452873|PMID:18611041|PMID:18752142|PMID:19124472|PMID:19160088|PMID:19490272|PMID:19590188|PMID:19632626|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19934648|PMID:19959132|PMID:20044973|PMID:20167303|PMID:20226272|PMID:20348026|PMID:20421371|PMID:20486126|PMID:20487114|PMID:20541041|PMID:20659946|PMID:20662986|PMID:20850564|PMID:20851114|PMID:21063070|PMID:21118729|PMID:21131640|PMID:21185501|PMID:21215473|PMID:21350584|PMID:21380488|PMID:21451124|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22293141|PMID:22309168|PMID:22378279|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22739119|PMID:22885918|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23098067|PMID:23123674|PMID:23124029|PMID:23130128|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23304551|PMID:23350853|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23788249|PMID:23851063|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23935525|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24217263|PMID:24218437|PMID:24223155|PMID:24284363|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24666684|PMID:24667783|PMID:24681627|PMID:24689698|PMID:24762593|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25037568|PMID:25119684|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25351510|PMID:25453094|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25649125|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25804018|PMID:25854863|PMID:25916402|PMID:25929701|PMID:25956966|PMID:25985138|PMID:25991456|PMID:26019114|PMID:26022593|PMID:26077850|PMID:26118460|PMID:26159999|PMID:26228265|PMID:26318259|PMID:26344792|PMID:26385840|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26704558|PMID:26743238|PMID:26937405|PMID:27000522|PMID:27041096|PMID:27041150|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27379800|PMID:27451284|PMID:27470144|PMID:27650965|PMID:27690226|PMID:27707468|PMID:27761162|PMID:27816319|PMID:27831900|PMID:27884173|PMID:27920829|PMID:28212739|PMID:28302345|PMID:28360401|PMID:28438721|PMID:28449774|PMID:28492532|PMID:28518168|PMID:28532774|PMID:28588847|PMID:28595573|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28944242|PMID:28988457|PMID:29037160|PMID:29097701|PMID:29197658|PMID:29247119|PMID:29372044|PMID:29379719|PMID:29449639|PMID:29532034|PMID:29544605 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2842 Jervell-Lange Nielsen syndrome ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome | ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1 | ClinVar Annotator: match by term: Jervell-Lange Nielsen syndrome | ClinVar Annotator: match by term: Surdo-cardiac syndrome PMID:29598884|PMID:29654130|PMID:29661707|PMID:29677589|PMID:29740400|PMID:29876285|PMID:29922582|PMID:30122538|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30530868|PMID:30571187|PMID:30591322|PMID:30615648|PMID:30755392|PMID:30847666|PMID:30935642|PMID:30974404|PMID:31043699|PMID:31226583|PMID:31427586|PMID:31447099|PMID:31589614|PMID:31638414|PMID:31696929|PMID:31737537|PMID:31994352|PMID:32048431|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32686758|PMID:32695137|PMID:32936022|PMID:33087929|PMID:33181513|PMID:33600800|PMID:33664273|PMID:33693037|PMID:33777698|PMID:34135346|PMID:34333030|PMID:34398675|PMID:34426522|PMID:34428338|PMID:34505893|PMID:34697415|PMID:35442947|PMID:8487283|PMID:9020846|PMID:9024139|PMID:9164812|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9641694|PMID:9781056|PMID:9799083|PMID:9927399 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:10024302|PMID:10077519|PMID:10086971|PMID:10090529|PMID:10090886|PMID:10220144|PMID:10220146|PMID:10367071|PMID:10376919|PMID:10409658|PMID:10477533|PMID:10482963|PMID:10483966|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10868744|PMID:10874277|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11278406|PMID:11351021|PMID:11410559|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11684219|PMID:11761407|PMID:11799244|PMID:11802537|PMID:11997281|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12205790|PMID:12388934|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12690509|PMID:12702160|PMID:12710526|PMID:12736279|PMID:12808265|PMID:12820704|PMID:12877697|PMID:14510661|PMID:14527360|PMID:14531214|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14756674|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15159330|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15511625|PMID:15528464|PMID:15547041|PMID:15649981|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15924777|PMID:15935335|PMID:16012827|PMID:16038262|PMID:16109388|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16244680|PMID:16246960|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16627448|PMID:16818214|PMID:16831322|PMID:16922724|PMID:16931984|PMID:16937190|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17053194|PMID:17088455|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17227916|PMID:17329207|PMID:17329209|PMID:17438609|PMID:17467628|PMID:17470695|PMID:17482572|PMID:17576681|PMID:17597962|PMID:17704175|PMID:17905336|PMID:17932138|PMID:17984373|PMID:17999538|PMID:18004376|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18308161|PMID:18400097|PMID:18426444|PMID:18452873|PMID:18464931|PMID:18580685|PMID:18599533|PMID:18611041|PMID:18713323|PMID:18752142|PMID:18774102|PMID:18808722|PMID:19027783|PMID:19041715|PMID:19114714|PMID:19160088|PMID:19165230|PMID:19167356|PMID:19184172|PMID:19198868|PMID:19261104|PMID:19348785|PMID:19490272|PMID:19540844|PMID:19590188|PMID:19632626|PMID:19646991|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19913547|PMID:19934648|PMID:19959132|PMID:20031635|PMID:20044973|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20196769|PMID:20226272|PMID:20348026|PMID:20368164|PMID:20421371|PMID:20436212|PMID:20486126|PMID:20487114|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20662986|PMID:20833965|PMID:20850564|PMID:20851114|PMID:20920651|PMID:20960614|PMID:20975234|PMID:20981092|PMID:20981542|PMID:21059661|PMID:21063070|PMID:21118729|PMID:21129503|PMID:21131640|PMID:21152909|PMID:21164565|PMID:21185501|PMID:21215473|PMID:21241800|PMID:21241880|PMID:21350584|PMID:21380488|PMID:21451124|PMID:21459285|PMID:21482651|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21810471|PMID:21854832|PMID:21895724|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22250012|PMID:22293141|PMID:22309168|PMID:22373669|PMID:22378279|PMID:22382802|PMID:22429796|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22613981|PMID:22629021|PMID:22677073|PMID:22708720|PMID:22727609|PMID:22739119|PMID:22771213|PMID:22818067|PMID:22882672|PMID:22885918|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23000022|PMID:23075154|PMID:23092362|PMID:23098067|PMID:23123674|PMID:23124029|PMID:2313012|PMID:23130128|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23271449|PMID:23304551|PMID:23350853|PMID:23375927|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23728945|PMID:23788249|PMID:23844633|PMID:23851063|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23935525 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:23995044|PMID:24006450|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24070608|PMID:24096004|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24217263|PMID:24218437|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24314077|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24552659|PMID:24596401|PMID:24606995|PMID:24631775|PMID:24666684|PMID:24667783|PMID:24681627|PMID:24687331|PMID:24689698|PMID:24705789|PMID:24721657|PMID:24762593|PMID:24818999|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25028166|PMID:25037568|PMID:25087618|PMID:25119684|PMID:25139741|PMID:25163546|PMID:25187895|PMID:25192979|PMID:25236808|PMID:25294783|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25444851|PMID:25447171|PMID:25453094|PMID:25494010|PMID:25525159|PMID:25559286|PMID:25564553|PMID:25608792|PMID:25616976|PMID:25634836|PMID:25637381|PMID:25639344|PMID:25640679|PMID:25645639|PMID:25649125|PMID:25650408|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25804018|PMID:25825456|PMID:25845942|PMID:25854863|PMID:25889101|PMID:25916402|PMID:25929701|PMID:25935074|PMID:25974115|PMID:25985138|PMID:25991456|PMID:26019114|PMID:26022593|PMID:26063740|PMID:26077850|PMID:26118460|PMID:26118593|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26344792|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26467025|PMID:26496715|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:26734131|PMID:26743238|PMID:26745405|PMID:26813553|PMID:26937405|PMID:27000522|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27311732|PMID:27332903|PMID:27451284|PMID:27470144|PMID:27479201|PMID:27485560|PMID:27650965|PMID:27761162|PMID:27807201|PMID:27816319|PMID:27831900|PMID:27871843|PMID:27884173|PMID:27917693|PMID:27920829|PMID:27921062|PMID:28012188|PMID:28096388|PMID:28166811|PMID:28212739|PMID:28249770|PMID:28264985|PMID:28302345|PMID:28360401|PMID:28364778|PMID:28438721|PMID:28449774|PMID:28479515|PMID:28491751|PMID:28492532|PMID:28518168|PMID:28532774|PMID:28588847|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28739325|PMID:28749187|PMID:28794082|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29033053|PMID:29037160|PMID:29167462|PMID:29194874|PMID:29197658|PMID:29247119|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29439887|PMID:29451064|PMID:29497013|PMID:29532034|PMID:29544605|PMID:29582136|PMID:29598884|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29672598|PMID:29677589|PMID:29740400|PMID:29790872|PMID:29851656|PMID:29857160|PMID:29876285|PMID:29922582|PMID:29952348|PMID:30079003|PMID:30122538|PMID:30244407|PMID:30302399|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30571187|PMID:30591322|PMID:30615648|PMID:30758498|PMID:30847666|PMID:30935642|PMID:30967788|PMID:30974404|PMID:31009818|PMID:31019283|PMID:31043699|PMID:31226583|PMID:31337358|PMID:31447099|PMID:31565860|PMID:31589614|PMID:31696929|PMID:31737537|PMID:31899541|PMID:31980526|PMID:31994352|PMID:32004091|PMID:32009526|PMID:32048431|PMID:32096762|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32686758|PMID:32917565|PMID:32936022|PMID:33087929|PMID:34135346|PMID:34333030|PMID:34398675|PMID:8487283|PMID:8528244|PMID:8818942|PMID:8872472|PMID:9024139|PMID:9164812|PMID:9272155|PMID:9302275|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9570196|PMID:9600240|PMID:9641694|PMID:9654228|PMID:9693036|PMID:9702906|PMID:9781056|PMID:9799083|PMID:9927399 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:10024302|PMID:10077519|PMID:10086971|PMID:10090529|PMID:10090886|PMID:10220144|PMID:10220146|PMID:10367071|PMID:10376919|PMID:10409658|PMID:10477533|PMID:10482963|PMID:10483966|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10868744|PMID:10874277|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11278406|PMID:11351021|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11684219|PMID:11761407|PMID:11799244|PMID:11802537|PMID:11997281|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12205790|PMID:12388934|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12690509|PMID:12702160|PMID:12710526|PMID:12736279|PMID:12808265|PMID:12820704|PMID:12877697|PMID:14510661|PMID:14527360|PMID:14531214|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14756674|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15511625|PMID:15528464|PMID:15547041|PMID:15649981|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15924777|PMID:15935335|PMID:16012827|PMID:16038262|PMID:16109388|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16244680|PMID:16246960|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16534005|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16627448|PMID:16818214|PMID:16831322|PMID:16922724|PMID:16937190|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17053194|PMID:17088455|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17227916|PMID:17329207|PMID:17329209|PMID:17438609|PMID:17467628|PMID:17470695|PMID:17482572|PMID:17576681|PMID:17597962|PMID:17905336|PMID:17984373|PMID:17999538|PMID:18004376|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18308161|PMID:18400097|PMID:18426444|PMID:18452873|PMID:18464931|PMID:18580685|PMID:18599533|PMID:18611041|PMID:18713323|PMID:18752142|PMID:18774102|PMID:18808722|PMID:19027783|PMID:19041715|PMID:19114714|PMID:19160088|PMID:19165230|PMID:19167356|PMID:19184172|PMID:19198868|PMID:19261104|PMID:19348785|PMID:19490272|PMID:19540844|PMID:19590188|PMID:19632626|PMID:19646991|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19913547|PMID:19934648|PMID:19959132|PMID:20031635|PMID:20044973|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20196769|PMID:20226272|PMID:20348026|PMID:20368164|PMID:20421371|PMID:20486126|PMID:20487114|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20662986|PMID:20833965|PMID:20850564|PMID:20851114|PMID:20960614|PMID:20975234|PMID:20981092|PMID:21059661|PMID:21063070|PMID:21118729|PMID:21129503|PMID:21131640|PMID:21164565|PMID:21185501|PMID:21215473|PMID:21241800|PMID:21241880|PMID:21350584|PMID:21380488|PMID:21451124|PMID:21459285|PMID:21482651|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21810471|PMID:21854832|PMID:21895724|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22250012|PMID:22293141|PMID:22309168|PMID:22373669|PMID:22378279|PMID:22382802|PMID:22429796|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22613981|PMID:22629021|PMID:22677073|PMID:22708720|PMID:22727609|PMID:22739119|PMID:22771213|PMID:22818067|PMID:22882672|PMID:22885918|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23000022|PMID:23075154|PMID:23092362|PMID:23098067|PMID:23123674|PMID:23124029|PMID:2313012|PMID:23130128|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23271449|PMID:23304551|PMID:23350853|PMID:23375927|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23788249|PMID:23844633|PMID:23851063|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23935525|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24070608|PMID:24096004|PMID:24144883|PMID:24184248|PMID:24190995 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:24217263|PMID:24218437|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24314077|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24666684|PMID:24667783|PMID:24681627|PMID:24687331|PMID:24689698|PMID:24705789|PMID:24721657|PMID:24762593|PMID:24818999|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25028166|PMID:25037568|PMID:25087618|PMID:25119684|PMID:25163546|PMID:25187895|PMID:25192979|PMID:25236808|PMID:25294783|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25444851|PMID:25447171|PMID:25453094|PMID:25525159|PMID:25559286|PMID:25564553|PMID:25608792|PMID:25616976|PMID:25634836|PMID:25637381|PMID:25639344|PMID:25640679|PMID:25645639|PMID:25649125|PMID:25650408|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25804018|PMID:25825456|PMID:25845942|PMID:25854863|PMID:25889101|PMID:25916402|PMID:25929701|PMID:25935074|PMID:25974115|PMID:25985138|PMID:25991456|PMID:26019114|PMID:26022593|PMID:26066609|PMID:26077850|PMID:26118460|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26344792|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26467025|PMID:26496715|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26745405|PMID:26813553|PMID:26937405|PMID:27000522|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27311732|PMID:27332903|PMID:27451284|PMID:27470144|PMID:27479201|PMID:27485560|PMID:27650965|PMID:27761162|PMID:27807201|PMID:27810088|PMID:27816319|PMID:27831900|PMID:27871843|PMID:27884173|PMID:27917693|PMID:27920829|PMID:27921062|PMID:28012188|PMID:28166811|PMID:28249770|PMID:28264985|PMID:28302345|PMID:28360401|PMID:28364778|PMID:28383569|PMID:28438721|PMID:28449774|PMID:28479515|PMID:28491751|PMID:28492532|PMID:28518168|PMID:28532774|PMID:28588847|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28739325|PMID:28749187|PMID:28794082|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29033053|PMID:29037160|PMID:29167462|PMID:29194874|PMID:29197658|PMID:29247119|PMID:29255176|PMID:29372044|PMID:29379719|PMID:29439887|PMID:29451064|PMID:29497013|PMID:29532034|PMID:29544605|PMID:29598884|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29677589|PMID:29740400|PMID:29790872|PMID:29851656|PMID:29857160|PMID:29876285|PMID:29922582|PMID:29952348|PMID:30122538|PMID:30244407|PMID:30302399|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30530868|PMID:30571187|PMID:30591322|PMID:30615648|PMID:30758498|PMID:30847666|PMID:30935642|PMID:30974404|PMID:31009818|PMID:31019283|PMID:31043699|PMID:31226583|PMID:31337358|PMID:31447099|PMID:31565860|PMID:31589614|PMID:31696929|PMID:31737537|PMID:31899541|PMID:31980526|PMID:31994352|PMID:32004091|PMID:32009526|PMID:32048431|PMID:32096762|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32421437|PMID:32686758|PMID:32917565|PMID:32936022|PMID:33087929|PMID:34135346|PMID:34333030|PMID:34398675|PMID:35535697|PMID:8487283|PMID:8528244|PMID:8818942|PMID:8872472|PMID:9024139|PMID:9164812|PMID:9272155|PMID:9302275|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9570196|PMID:9600240|PMID:9641694|PMID:9654228|PMID:9693036|PMID:9702906|PMID:9781056|PMID:9799083|PMID:9927399 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:10024302|PMID:10077519|PMID:10086971|PMID:10090529|PMID:10090886|PMID:10220144|PMID:10220146|PMID:10367071|PMID:10376919|PMID:10409658|PMID:10477533|PMID:10482963|PMID:10483966|PMID:10508236|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10868744|PMID:10874277|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11278406|PMID:11351021|PMID:11410559|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11684219|PMID:11761407|PMID:11799244|PMID:11802537|PMID:11997281|PMID:12037327|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12205790|PMID:12388934|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12690509|PMID:12702160|PMID:12710526|PMID:12736279|PMID:12808265|PMID:12820704|PMID:12877697|PMID:1346223|PMID:14510661|PMID:14527360|PMID:14531214|PMID:14576198|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14756674|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15159330|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15511625|PMID:15528464|PMID:15547041|PMID:15635208|PMID:15649981|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15924777|PMID:15935335|PMID:16012827|PMID:16038262|PMID:16039274|PMID:16109388|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16244680|PMID:16246960|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16534005|PMID:16542208|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16627448|PMID:16818214|PMID:16831322|PMID:16922724|PMID:16931984|PMID:16937190|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17053194|PMID:17088455|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17227916|PMID:17329207|PMID:17329209|PMID:17438609|PMID:17467628|PMID:17470695|PMID:17482572|PMID:17576681|PMID:17597962|PMID:17698596|PMID:17704175|PMID:17905336|PMID:17932138|PMID:17984373|PMID:17999538|PMID:18004376|PMID:18079560|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18308161|PMID:18398469|PMID:18400097|PMID:18426444|PMID:18452873|PMID:18464931|PMID:18580685|PMID:18599533|PMID:18611041|PMID:18713323|PMID:18752142|PMID:18774102|PMID:18808722|PMID:19008479|PMID:19027783|PMID:19041715|PMID:19114714|PMID:19124472|PMID:19160088|PMID:19165230|PMID:19167356|PMID:19184172|PMID:19198868|PMID:19261104|PMID:19322600|PMID:19348785|PMID:19490272|PMID:19540844|PMID:19549851|PMID:19590188|PMID:19632626|PMID:19646991|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19913547|PMID:19934648|PMID:19959132|PMID:19996378|PMID:20031635|PMID:20040519|PMID:20044973|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20196769|PMID:20226272|PMID:20348026|PMID:20368164|PMID:20403459|PMID:20421371|PMID:20436212|PMID:20479111|PMID:20486126|PMID:20487114|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20662986|PMID:20833965|PMID:20850564|PMID:20851114|PMID:20920651|PMID:20960614|PMID:20975234|PMID:20981092|PMID:20981542|PMID:21059661|PMID:21063070|PMID:21070882|PMID:21118729|PMID:21129503|PMID:21131640|PMID:21152909|PMID:21164565|PMID:21185501|PMID:21215473|PMID:21241800|PMID:21241880|PMID:21350584|PMID:21380488|PMID:21451124|PMID:21459285|PMID:21482651|PMID:21499742|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21810471|PMID:21854832|PMID:21895724|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22250012|PMID:22293141|PMID:22309168|PMID:22354620|PMID:22373669|PMID:22378279|PMID:22382802|PMID:22429796|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22613981|PMID:22629021|PMID:22677073|PMID:22708720|PMID:22727609|PMID:22739119|PMID:22771213|PMID:22818067|PMID:22882672|PMID:22885918|PMID:22927196|PMID:22944906|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23000022|PMID:23075154|PMID:23092362|PMID:23098067|PMID:23123674|PMID:23124029 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:2313012|PMID:23130128|PMID:23139254|PMID:23153844|PMID:23158531|PMID:23174487|PMID:23193492|PMID:23251633|PMID:23271449|PMID:23291057|PMID:23304551|PMID:23324056|PMID:23350853|PMID:23375927|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23788249|PMID:23844633|PMID:23851063|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23935525|PMID:23989646|PMID:23995044|PMID:24006450|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24070608|PMID:24080067|PMID:24096004|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24217263|PMID:24218437|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24314077|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24373870|PMID:24388587|PMID:24440382|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24665220|PMID:24666684|PMID:24667783|PMID:24681627|PMID:24687331|PMID:24689698|PMID:24705789|PMID:24713462|PMID:24721657|PMID:24762593|PMID:24818999|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25028166|PMID:25037568|PMID:25087618|PMID:25119684|PMID:25139741|PMID:25163546|PMID:25174857|PMID:25187895|PMID:25192979|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25444851|PMID:25447171|PMID:25453094|PMID:25467552|PMID:25525159|PMID:25559286|PMID:25564553|PMID:25608792|PMID:25616976|PMID:25634836|PMID:25637381|PMID:25639344|PMID:25640679|PMID:25645639|PMID:25649125|PMID:25650408|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25804018|PMID:25825456|PMID:25845942|PMID:25854863|PMID:25889101|PMID:25916402|PMID:25929701|PMID:25935074|PMID:25956966|PMID:25974115|PMID:25985138|PMID:25991456|PMID:26019114|PMID:26022593|PMID:26063740|PMID:26066609|PMID:26077850|PMID:26118460|PMID:26118593|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26189708|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26338694|PMID:26344792|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26496715|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26688388|PMID:26704558|PMID:26715165|PMID:26734131|PMID:26743238|PMID:26745405|PMID:26813553|PMID:26937405|PMID:27000522|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27114410|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27311732|PMID:27325960|PMID:27332903|PMID:27379800|PMID:27451284|PMID:27470144|PMID:27479201|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27761162|PMID:27807201|PMID:27810088|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27871843|PMID:27884173|PMID:27917693|PMID:27920829|PMID:27921062|PMID:28012188|PMID:28096388|PMID:28166811|PMID:28212739|PMID:28217227|PMID:28249770|PMID:28264985|PMID:28302345|PMID:28341588|PMID:28360401|PMID:28364778|PMID:28383569|PMID:28438721|PMID:28449774|PMID:28479515|PMID:28491751|PMID:28491806|PMID:28492532|PMID:28518168|PMID:28532774|PMID:28575668|PMID:28588847|PMID:28595573|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28739325|PMID:28749187|PMID:28794082|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29033053|PMID:29037160|PMID:29167462|PMID:29194874|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29255176|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29401425|PMID:29420653|PMID:29439887|PMID:29447731|PMID:29449639|PMID:29451064|PMID:29497013|PMID:29532034|PMID:29544605|PMID:29582136|PMID:29598884|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29677589|PMID:29740400|PMID:29790872|PMID:29851656|PMID:29857160|PMID:29876285|PMID:29922582|PMID:29925740|PMID:29952348|PMID:30008122|PMID:30079003|PMID:30122538|PMID:30170673|PMID:30244407|PMID:30302399|PMID:30311386|PMID:30327538|PMID:30369311|PMID:30406014|PMID:30530868|PMID:30571187|PMID:30591322|PMID:30609406|PMID:30615648|PMID:30758498|PMID:30847666|PMID:30935642|PMID:30967788|PMID:30974404|PMID:31009818|PMID:31019283|PMID:31043699|PMID:31078652|PMID:31226583|PMID:31315195|PMID:31337358|PMID:31395126|PMID:31427586|PMID:31447099|PMID:31484877|PMID:31535183|PMID:31565860|PMID:31589614 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:31638414|PMID:31696929|PMID:31729605|PMID:31737537|PMID:31883792|PMID:31899541|PMID:31980526|PMID:31994352|PMID:32004091|PMID:32009526|PMID:32048431|PMID:32096762|PMID:32168391|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32421437|PMID:32508908|PMID:32600061|PMID:32686758|PMID:32695137|PMID:32797034|PMID:32893267|PMID:32917565|PMID:32936022|PMID:33087929|PMID:33095155|PMID:33141630|PMID:33181513|PMID:33256261|PMID:33309763|PMID:33498651|PMID:33574382|PMID:33600800|PMID:33693037|PMID:33777698|PMID:33876311|PMID:34135346|PMID:34319147|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34426522|PMID:34428338|PMID:34505893|PMID:34697415|PMID:34884666|PMID:34930020|PMID:35535697|PMID:36197721|PMID:8487283|PMID:8528244|PMID:8818942|PMID:8872472|PMID:9020846|PMID:9024139|PMID:9164812|PMID:9272155|PMID:9302275|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9570196|PMID:9600240|PMID:9641694|PMID:9654228|PMID:9693036|PMID:9702906|PMID:9781056|PMID:9799083|PMID:9927399 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:10024302|PMID:10077519|PMID:10086971|PMID:10090529|PMID:10090886|PMID:10220144|PMID:10220146|PMID:10367071|PMID:10376919|PMID:10409658|PMID:10477533|PMID:10482963|PMID:10483966|PMID:10508236|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10868744|PMID:10874277|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11278406|PMID:11351021|PMID:11410559|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11684219|PMID:11761407|PMID:11799244|PMID:11802537|PMID:11997281|PMID:12037327|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12205790|PMID:12388934|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12690509|PMID:12702160|PMID:12710526|PMID:12736279|PMID:12808265|PMID:12820704|PMID:12877697|PMID:1346223|PMID:14510661|PMID:14527360|PMID:14531214|PMID:14576198|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14756674|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15159330|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15511625|PMID:15528464|PMID:15547041|PMID:15635208|PMID:15649981|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15924777|PMID:15935335|PMID:16012827|PMID:16038262|PMID:16039274|PMID:16109388|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16244680|PMID:16246960|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16534005|PMID:16542208|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16627448|PMID:16818214|PMID:16831322|PMID:16922724|PMID:16931984|PMID:16937190|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17053194|PMID:17088455|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17227916|PMID:17329207|PMID:17329209|PMID:17438609|PMID:17467628|PMID:17470695|PMID:17482572|PMID:17576681|PMID:17597962|PMID:17698596|PMID:17704175|PMID:17905336|PMID:17932138|PMID:17984373|PMID:17999538|PMID:18004376|PMID:18079560|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18308161|PMID:18398469|PMID:18400097|PMID:18426444|PMID:18452873|PMID:18464931|PMID:18580685|PMID:18599533|PMID:18611041|PMID:18713323|PMID:18752142|PMID:18774102|PMID:18808722|PMID:19008479|PMID:19027783|PMID:19041715|PMID:19114714|PMID:19124472|PMID:19160088|PMID:19165230|PMID:19167356|PMID:19184172|PMID:19198868|PMID:19261104|PMID:19322600|PMID:19348785|PMID:19490272|PMID:19540844|PMID:19549851|PMID:19590188|PMID:19632626|PMID:19646991|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19913547|PMID:19934648|PMID:19959132|PMID:19996378|PMID:20031635|PMID:20040519|PMID:20044973|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20196769|PMID:20226272|PMID:20348026|PMID:20368164|PMID:20403459|PMID:20421371|PMID:20436212|PMID:20479111|PMID:20486126|PMID:20487114|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20662986|PMID:20833965|PMID:20850564|PMID:20851114|PMID:20920651|PMID:20960614|PMID:20975234|PMID:20981092|PMID:20981542|PMID:21059661|PMID:21063070|PMID:21070882|PMID:21118729|PMID:21129503|PMID:21131640|PMID:21152909|PMID:21164565|PMID:21185501|PMID:21215473|PMID:21241800|PMID:21241880|PMID:21350584|PMID:21380488|PMID:21451124|PMID:21459285|PMID:21482651|PMID:21499742|PMID:21511995|PMID:21576493|PMID:21635612|PMID:21778721|PMID:21779290|PMID:21810471|PMID:21854832|PMID:21895724|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22250012|PMID:22293141|PMID:22309168|PMID:22354620|PMID:22373669|PMID:22378279|PMID:22382802|PMID:22429796|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22613981|PMID:22629021|PMID:22677073|PMID:22708720|PMID:22727609|PMID:22739119|PMID:22771213|PMID:22818067|PMID:22882672|PMID:22885918|PMID:22927196|PMID:22944906|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23000022|PMID:23075154|PMID:23092362|PMID:23098067|PMID:23123674 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:23124029|PMID:2313012|PMID:23130128|PMID:23139254|PMID:23153844|PMID:23158531|PMID:23174487|PMID:23193492|PMID:23251633|PMID:23271449|PMID:23291057|PMID:23304551|PMID:23324056|PMID:23350853|PMID:23375927|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23788249|PMID:23844633|PMID:23851063|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23935525|PMID:23989646|PMID:23995044|PMID:24006450|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24070608|PMID:24080067|PMID:24096004|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24217263|PMID:24218437|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24314077|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24373870|PMID:24388587|PMID:24440382|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24665220|PMID:24666684|PMID:24667783|PMID:24681627|PMID:24687331|PMID:24689698|PMID:24705789|PMID:24713462|PMID:24721657|PMID:24762593|PMID:24818999|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25028166|PMID:25037568|PMID:25087618|PMID:25119684|PMID:25139741|PMID:25163546|PMID:25174857|PMID:25187895|PMID:25192979|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25444851|PMID:25447171|PMID:25453094|PMID:25467552|PMID:25525159|PMID:25559286|PMID:25564553|PMID:25608792|PMID:25616976|PMID:25634836|PMID:25637381|PMID:25639344|PMID:25640679|PMID:25645639|PMID:25649125|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25804018|PMID:25825456|PMID:25845942|PMID:25854863|PMID:25889101|PMID:25916402|PMID:25929701|PMID:25935074|PMID:25956966|PMID:25974115|PMID:25985138|PMID:25991456|PMID:26019114|PMID:26022593|PMID:26063740|PMID:26066609|PMID:26077850|PMID:26118460|PMID:26118593|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26189708|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26338694|PMID:26344792|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26496715|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26688388|PMID:26704558|PMID:26715165|PMID:26734131|PMID:26743238|PMID:26745405|PMID:26813553|PMID:26937405|PMID:27000522|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27114410|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27311732|PMID:27325960|PMID:27332903|PMID:27379800|PMID:27451284|PMID:27470144|PMID:27479201|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27707468|PMID:27761162|PMID:27807201|PMID:27810088|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27871843|PMID:27884173|PMID:27917693|PMID:27920829|PMID:27921062|PMID:28012188|PMID:28096388|PMID:28212739|PMID:28217227|PMID:28249770|PMID:28264985|PMID:28302345|PMID:28341588|PMID:28360401|PMID:28364778|PMID:28383569|PMID:28438721|PMID:28449774|PMID:28479515|PMID:28491751|PMID:28491806|PMID:28492532|PMID:28518168|PMID:28532774|PMID:28566242|PMID:28575668|PMID:28588847|PMID:28595573|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28739325|PMID:28749187|PMID:28749435|PMID:28794082|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29033053|PMID:29037160|PMID:29167462|PMID:29194874|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29255176|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29401425|PMID:29420653|PMID:29439887|PMID:29447731|PMID:29449639|PMID:29451064|PMID:29497013|PMID:29532034|PMID:29544605|PMID:29582136|PMID:29598884|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29677589|PMID:29740400|PMID:29790872|PMID:29851656|PMID:29857160|PMID:29876285|PMID:29922582|PMID:29925740|PMID:29952348|PMID:30008122|PMID:30079003|PMID:30122538|PMID:30170673|PMID:30244407|PMID:30302399|PMID:30311386|PMID:30327538|PMID:30369311|PMID:30406014|PMID:30530868|PMID:30571187|PMID:30591322|PMID:30609406|PMID:30615648|PMID:30755392|PMID:30758498|PMID:30847666|PMID:30935642|PMID:30967788|PMID:30974404|PMID:31009818|PMID:31019283|PMID:31043699|PMID:31078652|PMID:31226583|PMID:31315195|PMID:31337358|PMID:31395126|PMID:31424047|PMID:31427586|PMID:31447099 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:31484877|PMID:31535183|PMID:31565860|PMID:31589614|PMID:31638414|PMID:31696929|PMID:31729605|PMID:31737537|PMID:31883792|PMID:31899541|PMID:31980526|PMID:31994352|PMID:32004091|PMID:32009526|PMID:32048431|PMID:32096762|PMID:32168391|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32421437|PMID:32470535|PMID:32508908|PMID:32600061|PMID:32686758|PMID:32695137|PMID:32797034|PMID:32893267|PMID:32917565|PMID:32936022|PMID:33087929|PMID:33095155|PMID:33141630|PMID:33181513|PMID:33256261|PMID:33309763|PMID:33484326|PMID:33498651|PMID:33574382|PMID:33600800|PMID:33664273|PMID:33693037|PMID:33777698|PMID:33876311|PMID:34135346|PMID:34319147|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34426522|PMID:34428338|PMID:34505893|PMID:34691145|PMID:34697415|PMID:34884666|PMID:34930020|PMID:35442947|PMID:35535697|PMID:36102233|PMID:36197721|PMID:8487283|PMID:8528244|PMID:8818942|PMID:8872472|PMID:9020846|PMID:9024139|PMID:9164812|PMID:9272155|PMID:9302275|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9570196|PMID:9600240|PMID:9641694|PMID:9654228|PMID:9693036|PMID:9702906|PMID:9781056|PMID:9799083|PMID:9927399 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome severity ISO RGD:1353354 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:3' utr:rs2519184, rs8234, rs10798 (human) PMID:22199116|REF_RGD_ID:7247613 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:299 adenocarcinoma ISO RGD:1353354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23975432 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1353354 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:12388934|PMID:15840476|PMID:17470695|PMID:19490272|PMID:19716085|PMID:19841300|PMID:21185501|PMID:22199116|PMID:22378279|PMID:22581653|PMID:22949429|PMID:23571586|PMID:23631430|PMID:24033266|PMID:24190995|PMID:25637381|PMID:25705178|PMID:25741868|PMID:25985138|PMID:26159999|PMID:27041096|PMID:28492532|PMID:28739325|PMID:28988457|PMID:29167462|PMID:29197658|PMID:30615648|PMID:31737537|PMID:32048431|PMID:32233023|PMID:34398675|PMID:9799083 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:4440 seminoma ISO RGD:1353354 D RGD:9068941 20200609 RGD PMID:15389592|REF_RGD_ID:1580497 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome | ClinVar Annotator: match by term: EMG Syndrome PMID:10704188|PMID:10973849|PMID:11530100|PMID:11997281|PMID:12566525|PMID:14510661|PMID:14678125|PMID:14760488|PMID:15051636|PMID:15840476|PMID:15935335|PMID:19716085|PMID:19841300|PMID:22378279|PMID:22581653|PMID:22629021|PMID:23174487|PMID:23392653|PMID:24033266|PMID:24055113|PMID:24190995|PMID:24357532|PMID:24606995|PMID:24912595|PMID:25608792|PMID:25637381|PMID:25649125|PMID:25705178|PMID:25741868|PMID:25854863|PMID:26077850|PMID:26318259|PMID:26669661|PMID:27159321|PMID:27650965|PMID:27884173|PMID:28166811|PMID:28438721|PMID:28449774|PMID:28492532|PMID:28944242|PMID:29197658|PMID:31696929 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal dominant KCNQ1-related disease | ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome | ClinVar Annotator: match by term: EMG Syndrome PMID:10024302|PMID:10367071|PMID:10477533|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10807545|PMID:10973849|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11530100|PMID:11668638|PMID:11997281|PMID:12051962|PMID:12205113|PMID:12402336|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12702160|PMID:1346223|PMID:14510661|PMID:1467812|PMID:14678125|PMID:14760488|PMID:14998624|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15214551|PMID:15234419|PMID:15466642|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15935335|PMID:16199547|PMID:16414944|PMID:16556866|PMID:16818214|PMID:17329207|PMID:17329209|PMID:17470695|PMID:17576681|PMID:17905336|PMID:17999538|PMID:18004376|PMID:18174212|PMID:18426444|PMID:18452873|PMID:18752142|PMID:19124472|PMID:19590188|PMID:19716085|PMID:19808498|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19862833|PMID:19934648|PMID:20044973|PMID:20421371|PMID:20486126|PMID:20541041|PMID:20662986|PMID:20850564|PMID:20851114|PMID:21118729|PMID:21131640|PMID:21185501|PMID:21451124|PMID:21511995|PMID:21576493|PMID:21779290|PMID:21810471|PMID:21956039|PMID:22199116|PMID:22293141|PMID:22378279|PMID:22456477|PMID:22509038|PMID:22581653|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22739119|PMID:22885918|PMID:22927196|PMID:22949429|PMID:22956155|PMID:23098067|PMID:23123674|PMID:23124029|PMID:23130128|PMID:23174487|PMID:23251633|PMID:23350853|PMID:23392653|PMID:23396983|PMID:23631430|PMID:23788249|PMID:23851063|PMID:23861362|PMID:23890619|PMID:23995044|PMID:24033266|PMID:24055113|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24218437|PMID:24223155|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24681627|PMID:24861447|PMID:24912595|PMID:24947509|PMID:25037568|PMID:25119684|PMID:25294783|PMID:25344363|PMID:25351510|PMID:25453094|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25649125|PMID:25705178|PMID:25741868|PMID:25786344|PMID:25854863|PMID:25916402|PMID:25929701|PMID:26077850|PMID:26159999|PMID:26228265|PMID:26318259|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26546361|PMID:26669661|PMID:26743238|PMID:27000522|PMID:27041096|PMID:27041150|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27379800|PMID:27470144|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27707468|PMID:27761162|PMID:27816319|PMID:27831900|PMID:27884173|PMID:27920829|PMID:28438721|PMID:28449774|PMID:28492532|PMID:28518168|PMID:28588847|PMID:28606196|PMID:28704380|PMID:28944242|PMID:29037160|PMID:29197658|PMID:29247119|PMID:29255176|PMID:29449639|PMID:29532034|PMID:29544605|PMID:29598884|PMID:29677589|PMID:29740400|PMID:29857160|PMID:29876285|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30571187|PMID:30615648|PMID:30755392|PMID:30847666|PMID:30935642|PMID:30974404|PMID:31226583|PMID:31427586|PMID:31447099|PMID:31589614|PMID:31638414|PMID:31696929|PMID:31737537|PMID:31994352|PMID:32048431|PMID:32383558|PMID:32686758|PMID:32695137|PMID:32936022|PMID:33087929|PMID:33181513|PMID:33600800|PMID:33777698|PMID:34135346|PMID:34333030|PMID:34428338|PMID:34505893|PMID:34697415|PMID:35442947|PMID:8487283|PMID:9312006|PMID:9323054|PMID:9386136|PMID:9536098|PMID:9570196|PMID:9654228|PMID:9927399 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:630 genetic disease ISO RGD:1353354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12702160|PMID:15840476|PMID:16414944|PMID:19862833|PMID:22581653|PMID:24033266|PMID:24388587|PMID:25441029|PMID:25741868|PMID:26669661|PMID:28364778|PMID:28492532|PMID:29097701|PMID:29197658|PMID:9323054 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:8488 polyhydramnios ISO RGD:1353354 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Polyhydramnios PMID:15781747|PMID:15840476|PMID:19716085|PMID:19841300|PMID:22581653|PMID:22949429|PMID:23392653|PMID:23631430|PMID:24033266|PMID:24947509|PMID:25741868|PMID:25854863|PMID:26546361|PMID:26669661|PMID:27831900|PMID:28492532|PMID:30755392|PMID:31447099 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10024302|PMID:10090886|PMID:10376919|PMID:10409658|PMID:10482963|PMID:10483966|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11216980|PMID:11530100|PMID:11668638|PMID:11761407|PMID:11799244|PMID:11997281|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12690509|PMID:12702160|PMID:12736279|PMID:12877697|PMID:14510661|PMID:14531214|PMID:14661676|PMID:14661677|PMID:14678125|PMID:14731347|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15528464|PMID:15547041|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16922724|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17227916|PMID:17329207|PMID:17329209|PMID:17467628|PMID:17470695|PMID:17576681|PMID:17597962|PMID:17905336|PMID:17999538|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18426444|PMID:18452873|PMID:18611041|PMID:18752142|PMID:19160088|PMID:19198868|PMID:19261104|PMID:19490272|PMID:19590188|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19934648|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20226272|PMID:20368164|PMID:20421371|PMID:20486126|PMID:20659946|PMID:20660394|PMID:20851114|PMID:20981092|PMID:21063070|PMID:21131640|PMID:21152909|PMID:21185501|PMID:21215473|PMID:21350584|PMID:21451124|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22293141|PMID:22309168|PMID:22378279|PMID:22429796|PMID:22456477|PMID:22539601|PMID:22581653|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23075154|PMID:23098067|PMID:23130128|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23304551|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23788249|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24190995|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24552659|PMID:24596401|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24681627|PMID:24721657|PMID:24762593|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25037568|PMID:25163546|PMID:25187895|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25845942|PMID:25854863|PMID:25935074|PMID:25985138|PMID:26019114|PMID:26022593|PMID:26077850|PMID:26118460|PMID:26159999|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26467025|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:27026747|PMID:27041150|PMID:27159321|PMID:27251404|PMID:27311732|PMID:27451284|PMID:27485560|PMID:27650965|PMID:27761162|PMID:27807201|PMID:27816319|PMID:27831900|PMID:27884173|PMID:27917693|PMID:27920829|PMID:28166811|PMID:28438721|PMID:28449774|PMID:28491751|PMID:28492532|PMID:28532774|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28794082|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29037160|PMID:29197658|PMID:29247119|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29532034|PMID:29544605|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29672598|PMID:29740400|PMID:29876285|PMID:29922582|PMID:29952348|PMID:30302399|PMID:30311386|PMID:30571187|PMID:30615648|PMID:30758498|PMID:30935642|PMID:31337358|PMID:31447099|PMID:31565860|PMID:31696929 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:31737537|PMID:31899541|PMID:31994352|PMID:32048431|PMID:32238909|PMID:32268277|PMID:32917565|PMID:34333030|PMID:8528244|PMID:9312006|PMID:9323054|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9641694|PMID:9693036|PMID:9799083|PMID:9927399 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:10024302|PMID:10090886|PMID:10376919|PMID:10409658|PMID:10482963|PMID:10483966|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11216980|PMID:11530100|PMID:11668638|PMID:11761407|PMID:11799244|PMID:11997281|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12690509|PMID:12702160|PMID:12736279|PMID:12877697|PMID:14510661|PMID:14531214|PMID:14661676|PMID:14661677|PMID:14678125|PMID:14731347|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15528464|PMID:15547041|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16039274|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16922724|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17227916|PMID:17329207|PMID:17329209|PMID:17467628|PMID:17470695|PMID:17576681|PMID:17597962|PMID:17905336|PMID:17999538|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18426444|PMID:18452873|PMID:18611041|PMID:18752142|PMID:19124472|PMID:19160088|PMID:19198868|PMID:19261104|PMID:19348785|PMID:19490272|PMID:19590188|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19934648|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20226272|PMID:20368164|PMID:20421371|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20851114|PMID:20981092|PMID:21063070|PMID:21131640|PMID:21152909|PMID:21185501|PMID:21215473|PMID:21350584|PMID:21451124|PMID:21482651|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22293141|PMID:22309168|PMID:22378279|PMID:22429796|PMID:22456477|PMID:22539601|PMID:22581653|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22739119|PMID:22944906|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23075154|PMID:23098067|PMID:23124029|PMID:23130128|PMID:23153844|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23304551|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23788249|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24190995|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24681627|PMID:24713462|PMID:24721657|PMID:24762593|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25037568|PMID:25163546|PMID:25187895|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25639344|PMID:25649125|PMID:25650408|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25845942|PMID:25854863|PMID:25935074|PMID:25985138|PMID:26019114|PMID:26022593|PMID:26077850|PMID:26118460|PMID:26159999|PMID:26189708|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26338694|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26467025|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:27026747|PMID:27041150|PMID:27114410|PMID:27159321|PMID:27251404|PMID:27311732|PMID:27325960|PMID:27379800|PMID:27451284|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27761162|PMID:27807201|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27871843|PMID:27884173|PMID:27917693|PMID:27920829|PMID:28166811|PMID:28341588|PMID:28438721|PMID:28449774|PMID:28491751|PMID:28491806|PMID:28492532|PMID:28532774|PMID:28595573|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28794082|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29037160|PMID:29197658 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:29241489|PMID:29247119|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29420653|PMID:29449639|PMID:29532034|PMID:29544605|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29740400|PMID:29876285|PMID:29922582|PMID:29952348|PMID:30008122|PMID:30302399|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30571187|PMID:30615648|PMID:30758498|PMID:30847666|PMID:30935642|PMID:31043699|PMID:31315195|PMID:31337358|PMID:31427586|PMID:31447099|PMID:31484877|PMID:31565860|PMID:31589614|PMID:31696929|PMID:31737537|PMID:31899541|PMID:31994352|PMID:32048431|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32508908|PMID:32695137|PMID:32893267|PMID:32917565|PMID:33141630|PMID:33256261|PMID:33498651|PMID:33693037|PMID:33876311|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34426522|PMID:34428338|PMID:34930020|PMID:36197721|PMID:8528244|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9641694|PMID:9693036|PMID:9799083|PMID:9927399 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:10024302|PMID:10090886|PMID:10376919|PMID:10409658|PMID:10482963|PMID:10483966|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11216980|PMID:11530100|PMID:11668638|PMID:11761407|PMID:11799244|PMID:11997281|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12690509|PMID:12702160|PMID:12736279|PMID:12877697|PMID:14510661|PMID:14531214|PMID:14661676|PMID:14661677|PMID:14678125|PMID:14731347|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15528464|PMID:15547041|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16039274|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16922724|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17227916|PMID:17329207|PMID:17329209|PMID:17467628|PMID:17470695|PMID:17576681|PMID:17597962|PMID:17905336|PMID:17999538|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18426444|PMID:18452873|PMID:18611041|PMID:18752142|PMID:19124472|PMID:19160088|PMID:19198868|PMID:19261104|PMID:19348785|PMID:19490272|PMID:19590188|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19934648|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20226272|PMID:20368164|PMID:20421371|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20851114|PMID:20981092|PMID:21063070|PMID:21131640|PMID:21152909|PMID:21185501|PMID:21215473|PMID:21270786|PMID:21350584|PMID:21451124|PMID:21482651|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22293141|PMID:22309168|PMID:22378279|PMID:22429796|PMID:22456477|PMID:22539601|PMID:22581653|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22739119|PMID:22944906|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23075154|PMID:23098067|PMID:23124029|PMID:23130128|PMID:23153844|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23304551|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23788249|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24190995|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24681627|PMID:24713462|PMID:24721657|PMID:24762593|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25037568|PMID:25163546|PMID:25187895|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25639344|PMID:25649125|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25845942|PMID:25854863|PMID:25935074|PMID:25956966|PMID:25974703|PMID:25985138|PMID:26019114|PMID:26022593|PMID:26077850|PMID:26118460|PMID:26159999|PMID:26189708|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26338694|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26467025|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:27026747|PMID:27041150|PMID:27114410|PMID:27159321|PMID:27251404|PMID:27311732|PMID:27325960|PMID:27379800|PMID:27451284|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27761162|PMID:27807201|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27871843|PMID:27884173|PMID:27917693|PMID:27920829|PMID:28212739|PMID:28341588|PMID:28438721|PMID:28449774|PMID:28491751|PMID:28491806|PMID:28492532|PMID:28532774|PMID:28595573|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28749435|PMID:28794082|PMID:28798025|PMID:28944242 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:28988457|PMID:29021305|PMID:29037160|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29420653|PMID:29449639|PMID:29532034|PMID:29544605|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29740400|PMID:29876285|PMID:29922582|PMID:29952348|PMID:30008122|PMID:30302399|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30571187|PMID:30615648|PMID:30758498|PMID:30847666|PMID:30935642|PMID:31043699|PMID:31315195|PMID:31337358|PMID:31427586|PMID:31447099|PMID:31484877|PMID:31565860|PMID:31589614|PMID:31696929|PMID:31737537|PMID:31899541|PMID:31994352|PMID:32048431|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32508908|PMID:32695137|PMID:32893267|PMID:32917565|PMID:33141630|PMID:33256261|PMID:33498651|PMID:33693037|PMID:33876311|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34426522|PMID:34428338|PMID:34930020|PMID:36197721|PMID:8528244|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9641694|PMID:9693036|PMID:9799083|PMID:9927399 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10024302|PMID:10090886|PMID:10376919|PMID:10409658|PMID:10482963|PMID:10483966|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11216980|PMID:11530100|PMID:11668638|PMID:11761407|PMID:11799244|PMID:11997281|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12690509|PMID:12702160|PMID:12736279|PMID:12877697|PMID:14510661|PMID:14531214|PMID:14661676|PMID:14661677|PMID:14678125|PMID:14731347|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15528464|PMID:15547041|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16039274|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16922724|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17227916|PMID:17329207|PMID:17329209|PMID:17467628|PMID:17470695|PMID:17576681|PMID:17597962|PMID:17905336|PMID:17999538|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18426444|PMID:18452873|PMID:18611041|PMID:18752142|PMID:19124472|PMID:19160088|PMID:19198868|PMID:19261104|PMID:19348785|PMID:19490272|PMID:19590188|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19934648|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20226272|PMID:20368164|PMID:20421371|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20851114|PMID:20981092|PMID:21063070|PMID:21131640|PMID:21152909|PMID:21185501|PMID:21215473|PMID:21350584|PMID:21451124|PMID:21482651|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22293141|PMID:22309168|PMID:22378279|PMID:22429796|PMID:22456477|PMID:22539601|PMID:22581653|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22739119|PMID:22944906|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23075154|PMID:23098067|PMID:23124029|PMID:23130128|PMID:23153844|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23304551|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23788249|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24144883|PMID:24190995|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24681627|PMID:24713462|PMID:24721657|PMID:24762593|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25037568|PMID:25163546|PMID:25187895|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25639344|PMID:25649125|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25845942|PMID:25854863|PMID:25935074|PMID:25956966|PMID:25985138|PMID:26019114|PMID:26022593|PMID:26077850|PMID:26118460|PMID:26159999|PMID:26189708|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26338694|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26467025|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:27026747|PMID:27041150|PMID:27114410|PMID:27159321|PMID:27251404|PMID:27311732|PMID:27325960|PMID:27379800|PMID:27451284|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27707468|PMID:27761162|PMID:27807201|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27871843|PMID:27884173|PMID:27917693|PMID:27920829|PMID:28212739|PMID:28341588|PMID:28438721|PMID:28449774|PMID:28491751|PMID:28491806|PMID:28492532|PMID:28532774|PMID:28566242|PMID:28595573|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28749435|PMID:28794082|PMID:28798025 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:28944242|PMID:28988457|PMID:29021305|PMID:29033053|PMID:29037160|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29420653|PMID:29449639|PMID:29532034|PMID:29544605|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29740400|PMID:29876285|PMID:29922582|PMID:29952348|PMID:30008122|PMID:30302399|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30571187|PMID:30615648|PMID:30755392|PMID:30758498|PMID:30847666|PMID:30935642|PMID:31043699|PMID:31315195|PMID:31337358|PMID:31424047|PMID:31427586|PMID:31447099|PMID:31484877|PMID:31565860|PMID:31589614|PMID:31696929|PMID:31737537|PMID:31899541|PMID:31994352|PMID:32048431|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32470535|PMID:32508908|PMID:32695137|PMID:32893267|PMID:32917565|PMID:33141630|PMID:33256261|PMID:33484326|PMID:33498651|PMID:33600800|PMID:33693037|PMID:33876311|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34426522|PMID:34428338|PMID:34505893|PMID:34691145|PMID:34930020|PMID:35442947|PMID:36102233|PMID:36197721|PMID:8528244|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9641694|PMID:9693036|PMID:9799083|PMID:9927399 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000156 Metaplasia ISO RGD:621503 D RGD:9068941 20200609 RGD associated with Stomach Diseases PMID:18587108|REF_RGD_ID:2317967 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:14661677|PMID:15913580|PMID:17210839|PMID:18752142|PMID:19646991|PMID:19841300|PMID:22818067|PMID:22947121|PMID:24033266|PMID:24687331|PMID:25741868|PMID:28438721|PMID:28492532 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9001050 Short QT Syndrome 2 ISO RGD:1353354 D RGD:7240710 20230517 OMIM 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9001050 Short QT Syndrome 2 ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 2 PMID:10024302|PMID:10367071|PMID:10482963|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11278406|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11761407|PMID:11997281|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12402336|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12702160|PMID:12736279|PMID:1346223|PMID:14510661|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15159330|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15500450|PMID:15547041|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16109388|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16818214|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17329207|PMID:17329209|PMID:17470695|PMID:17576681|PMID:17597962|PMID:17905336|PMID:17999538|PMID:18004376|PMID:18174212|PMID:18222468|PMID:18426444|PMID:18452873|PMID:18599533|PMID:18611041|PMID:18752142|PMID:19124472|PMID:19490272|PMID:19590188|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19862833|PMID:19934648|PMID:20044973|PMID:20421371|PMID:20436212|PMID:20486126|PMID:20541041|PMID:20662986|PMID:20850564|PMID:20851114|PMID:21063070|PMID:21118729|PMID:21131640|PMID:21185501|PMID:21215473|PMID:21350584|PMID:21451124|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21956039|PMID:22199116|PMID:22250012|PMID:22293141|PMID:22309168|PMID:22378279|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22739119|PMID:22885918|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23098067|PMID:23123674|PMID:23124029|PMID:23130128|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23304551|PMID:23350853|PMID:23375927|PMID:23392653|PMID:23396983|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23788249|PMID:23851063|PMID:23861362|PMID:23890619|PMID:23935525|PMID:23995044|PMID:24006450|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24218437|PMID:24223155|PMID:24284363|PMID:24291113|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24681627|PMID:24762593|PMID:24818999|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25037568|PMID:25119684|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25351510|PMID:25453094|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25649125|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25854863|PMID:25916402|PMID:25929701|PMID:25974115|PMID:25985138|PMID:26019114|PMID:26077850|PMID:26118460|PMID:26159999|PMID:26168993|PMID:26228265|PMID:26318259|PMID:26346102|PMID:26385840|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26704558|PMID:26743238|PMID:26937405|PMID:27000522|PMID:27041096|PMID:27041150|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27379800|PMID:27451284|PMID:27470144|PMID:27650965|PMID:27690226|PMID:27707468|PMID:27761162|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27884173|PMID:27920829|PMID:28302345|PMID:28360401|PMID:28383569|PMID:28438721|PMID:28449774|PMID:28492532|PMID:28518168|PMID:28588847|PMID:28600177|PMID:28606196|PMID:28704380|PMID:28720088|PMID:28944242|PMID:28988457|PMID:29037160|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29372044|PMID:29379719|PMID:29449639|PMID:29532034|PMID:29544605|PMID:29598884|PMID:29654130|PMID:29661707|PMID:29677589|PMID:29740400|PMID:29876285|PMID:29922582|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30571187|PMID:30615648|PMID:30755392|PMID:30847666|PMID:30935642|PMID:30974404|PMID:31043699|PMID:31226583|PMID:31315195|PMID:31427586|PMID:31447099|PMID:31589614|PMID:31638414|PMID:31696929|PMID:31737537 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9001050 Short QT Syndrome 2 ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 2 PMID:31994352|PMID:32048431|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32686758|PMID:32695137|PMID:32936022|PMID:33087929|PMID:33181513|PMID:33600800|PMID:33693037|PMID:33777698|PMID:34135346|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34428338|PMID:34505893|PMID:34697415|PMID:35442947|PMID:8487283|PMID:9312006|PMID:9323054|PMID:9386136|PMID:9536098|PMID:9641694|PMID:9799083|PMID:9927399 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9001295 Achlorhydria ISO RGD:621503 D RGD:9068941 20200609 RGD DNA:deletion:exon (rat) PMID:16368876|REF_RGD_ID:1581602 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9001790 Long QT Syndrome 1/2 ISO RGD:1353354 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1/2, digenic PMID:10086971|PMID:10376919|PMID:10973849|PMID:12702160|PMID:14678125|PMID:15028050|PMID:15498462|PMID:16627448|PMID:16922724|PMID:17470695|PMID:17984373|PMID:19490272|PMID:19716085|PMID:19841300|PMID:20368164|PMID:22095730|PMID:22581653|PMID:22949429|PMID:24217263|PMID:24861447|PMID:25192979|PMID:25741868|PMID:28492532|PMID:8528244 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:10482963|PMID:10704188|PMID:10737999|PMID:10973849|PMID:11530100|PMID:12736279|PMID:14510661|PMID:15935335|PMID:16556866|PMID:19862833|PMID:22309168|PMID:22539601|PMID:23098067|PMID:23392653|PMID:24033266|PMID:24052033|PMID:24552659|PMID:24912595|PMID:25236808|PMID:25705178|PMID:25741868|PMID:26019114|PMID:26546361|PMID:27451284|PMID:27816319|PMID:27831900|PMID:28438721|PMID:28492532|PMID:28720088|PMID:29247119|PMID:29372044|PMID:29379719|PMID:29654130|PMID:29661707|PMID:29740400|PMID:29922582|PMID:32238909|PMID:9323054 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9002245 Intestinal Neoplasms ISO RGD:1353354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23975432 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1353354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16823764 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9003163 Heart Block ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:10482963|PMID:10704188|PMID:10737999|PMID:10973849|PMID:11530100|PMID:12736279|PMID:14510661|PMID:15935335|PMID:16556866|PMID:19862833|PMID:22309168|PMID:22539601|PMID:23098067|PMID:23392653|PMID:24033266|PMID:24052033|PMID:24552659|PMID:24912595|PMID:25236808|PMID:25705178|PMID:25741868|PMID:26019114|PMID:26546361|PMID:27451284|PMID:27816319|PMID:27831900|PMID:28438721|PMID:28492532|PMID:28720088|PMID:29247119|PMID:29372044|PMID:29379719|PMID:29654130|PMID:29661707|PMID:29740400|PMID:29922582|PMID:32238909|PMID:9323054 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1353354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9004538 Hearing Loss ISO RGD:1353354 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:19716085|PMID:23788249|PMID:25525159|PMID:25741868|PMID:27707468|PMID:28492532|PMID:30311386 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10024302|PMID:10086971|PMID:10090529|PMID:10090886|PMID:10220144|PMID:10220146|PMID:10367071|PMID:10376919|PMID:10409658|PMID:10482963|PMID:10483966|PMID:10508236|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10868744|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11278406|PMID:11410559|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11799244|PMID:11997281|PMID:12037327|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12205790|PMID:12388934|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12690509|PMID:12702160|PMID:12736279|PMID:12820704|PMID:12877697|PMID:1346223|PMID:14510661|PMID:14531214|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14756674|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15528464|PMID:15635208|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16039274|PMID:16253915|PMID:16414944|PMID:16556865|PMID:16556866|PMID:16627448|PMID:16818214|PMID:16831322|PMID:16922724|PMID:16931984|PMID:16937190|PMID:16981927|PMID:16987820|PMID:17053194|PMID:17088455|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17224687|PMID:17329207|PMID:17329209|PMID:17467628|PMID:17470695|PMID:17482572|PMID:17576681|PMID:17698596|PMID:17905336|PMID:17984373|PMID:17999538|PMID:18004376|PMID:18079560|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18400097|PMID:18452873|PMID:18464931|PMID:18580685|PMID:18611041|PMID:18713323|PMID:18752142|PMID:18774102|PMID:19008479|PMID:19114714|PMID:19160088|PMID:19261104|PMID:19322600|PMID:19348785|PMID:19490272|PMID:19540844|PMID:19549851|PMID:19590188|PMID:19632626|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19934648|PMID:19959132|PMID:20031635|PMID:20044973|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20196769|PMID:20226272|PMID:20348026|PMID:20368164|PMID:20403459|PMID:20421371|PMID:20479111|PMID:20486126|PMID:20487114|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20662986|PMID:20833965|PMID:20850564|PMID:20851114|PMID:20981092|PMID:21059661|PMID:21118729|PMID:21129503|PMID:21131640|PMID:21185501|PMID:21215473|PMID:21241800|PMID:21241880|PMID:21350584|PMID:21451124|PMID:21482651|PMID:21499742|PMID:21511995|PMID:21576493|PMID:21635612|PMID:21778721|PMID:21895724|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22293141|PMID:22309168|PMID:22378279|PMID:22429796|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22613981|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22882672|PMID:22885918|PMID:22927196|PMID:22949429|PMID:22956155|PMID:23000022|PMID:23075154|PMID:23092362|PMID:23098067|PMID:23123674|PMID:23124029|PMID:23130128|PMID:23139254|PMID:23153844|PMID:23158531|PMID:23193492|PMID:23251633|PMID:23271449|PMID:23291057|PMID:23304551|PMID:23324056|PMID:23350853|PMID:23392653|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23844633|PMID:23851063|PMID:23861362|PMID:23935525|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24080067|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24217263|PMID:24218437|PMID:24223155|PMID:24269949|PMID:24291113|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24552659|PMID:24606995|PMID:24666684|PMID:24667783|PMID:24681627|PMID:24721657|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25028166|PMID:25037568|PMID:25119684|PMID:25139741|PMID:25187895|PMID:25192979|PMID:25236808|PMID:25294783|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25444851|PMID:25453094|PMID:25467552|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25645639|PMID:25649125|PMID:25705178|PMID:25741868|PMID:25786344|PMID:25825456|PMID:25845942|PMID:25854863|PMID:25916402|PMID:25929701|PMID:25935074|PMID:25985138|PMID:25991456|PMID:26019114|PMID:26022593|PMID:26063740|PMID:26066609 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:26077850|PMID:26132555|PMID:26159999|PMID:26318259|PMID:26344792|PMID:26346102|PMID:26383259|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26813553|PMID:26937405|PMID:27000522|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27114410|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27311732|PMID:27325960|PMID:27332903|PMID:27379800|PMID:27451284|PMID:27470144|PMID:27479201|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27761162|PMID:27807201|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27884173|PMID:27917693|PMID:27920829|PMID:27921062|PMID:28012188|PMID:28217227|PMID:28249770|PMID:28264985|PMID:28302345|PMID:28360401|PMID:28438721|PMID:28449774|PMID:28491751|PMID:28492532|PMID:28518168|PMID:28532774|PMID:28566242|PMID:28575668|PMID:28588847|PMID:28619993|PMID:28720088|PMID:28739325|PMID:28749187|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29033053|PMID:29037160|PMID:29167462|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29372044|PMID:29379719|PMID:29401425|PMID:29439887|PMID:29447731|PMID:29449639|PMID:29451064|PMID:29497013|PMID:29532034|PMID:29544605|PMID:29598884|PMID:29654130|PMID:29661707|PMID:29677589|PMID:29740400|PMID:29790872|PMID:29876285|PMID:29922582|PMID:29925740|PMID:29952348|PMID:30008122|PMID:30122538|PMID:30530868|PMID:30571187|PMID:30591322|PMID:30615648|PMID:30755392|PMID:30847666|PMID:30935642|PMID:30974404|PMID:31009818|PMID:31019283|PMID:31043699|PMID:31226583|PMID:31315195|PMID:31395126|PMID:31424047|PMID:31427586|PMID:31447099|PMID:31484877|PMID:31589614|PMID:31638414|PMID:31696929|PMID:31729605|PMID:31737537|PMID:31883792|PMID:31899541|PMID:31980526|PMID:31994352|PMID:32009526|PMID:32048431|PMID:32168391|PMID:32238909|PMID:32383558|PMID:32470535|PMID:32508908|PMID:32686758|PMID:32695137|PMID:32797034|PMID:32893267|PMID:32936022|PMID:33087929|PMID:33181513|PMID:33256261|PMID:33484326|PMID:33498651|PMID:33600800|PMID:33664273|PMID:33777698|PMID:33876311|PMID:34135346|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34426522|PMID:34428338|PMID:34505893|PMID:34691145|PMID:34697415|PMID:34884666|PMID:35442947|PMID:35535697|PMID:36102233|PMID:36197721|PMID:8487283|PMID:8528244|PMID:8872472|PMID:9020846|PMID:9024139|PMID:9302275|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9570196|PMID:9693036|PMID:9781056|PMID:9799083|PMID:9927399 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9005444 Torsades de Pointes ISO RGD:1353354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Torsades de pointes PMID:17161064|PMID:22581653|PMID:28492532|PMID:29532034|PMID:30571187 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:15781747|PMID:15840476|PMID:19716085|PMID:19841300|PMID:22581653|PMID:22949429|PMID:23392653|PMID:23631430|PMID:24033266|PMID:24947509|PMID:25741868|PMID:25854863|PMID:26546361|PMID:26669661|PMID:27831900|PMID:28492532|PMID:30755392|PMID:31447099 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9007 sudden infant death syndrome ISO RGD:1353354 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:15913580|PMID:16534005|PMID:17210839|PMID:17222736|PMID:17470695|PMID:17999538|PMID:18222468|PMID:18596570|PMID:18611041|PMID:19490272|PMID:19716085|PMID:19815527|PMID:21185501|PMID:21215473|PMID:21778721|PMID:22581653|PMID:22677073|PMID:23304551|PMID:23465283|PMID:24033266|PMID:24920132|PMID:25637381|PMID:25741868|PMID:26066609|PMID:26332594|PMID:27884173|PMID:28492532|PMID:29197658|PMID:30302399|PMID:30615648|PMID:31043699|PMID:31337358|PMID:31737537 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9007070 Silver-Russell Syndrome 1 ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 1 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9007479 Habitual Abortions ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent spontaneous abortion PMID:16414944|PMID:22581653|PMID:25741868|PMID:34398675 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:25741868 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9008197 Familial Atrial Fibrillation 3 ISO RGD:1353354 D RGD:7240710 20230517 OMIM 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9008197 Familial Atrial Fibrillation 3 ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 3 PMID:10024302|PMID:10367071|PMID:10482963|PMID:10483966|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11761407|PMID:11997281|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12402336|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12702160|PMID:12736279|PMID:12877697|PMID:1346223|PMID:14510661|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15368194|PMID:15466642|PMID:15500450|PMID:15547041|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16818214|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17222736|PMID:17329207|PMID:17329209|PMID:17467630|PMID:17470695|PMID:17576681|PMID:17597962|PMID:17905336|PMID:17999538|PMID:18004376|PMID:18174212|PMID:18222468|PMID:18426444|PMID:18452873|PMID:18599533|PMID:18611041|PMID:18752142|PMID:19124472|PMID:19160088|PMID:19165230|PMID:19490272|PMID:19590188|PMID:19632626|PMID:19646991|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19862833|PMID:19934648|PMID:20044973|PMID:20421371|PMID:20486126|PMID:20541041|PMID:20662986|PMID:20850564|PMID:20851114|PMID:21063070|PMID:21118729|PMID:21131640|PMID:21185501|PMID:21215473|PMID:21224508|PMID:21350584|PMID:21451124|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22250012|PMID:22293141|PMID:22309168|PMID:22378279|PMID:22456477|PMID:22508963|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22739119|PMID:22818067|PMID:22885918|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23098067|PMID:23123674|PMID:23124029|PMID:23130128|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23304551|PMID:23350853|PMID:23392653|PMID:23396983|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23788249|PMID:23851063|PMID:23861362|PMID:23890619|PMID:23935525|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24096004|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24218437|PMID:24223155|PMID:24284363|PMID:24291113|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24681627|PMID:24687331|PMID:24762593|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25037568|PMID:25119684|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25351510|PMID:25444851|PMID:25447171|PMID:25453094|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25649125|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25854863|PMID:25916402|PMID:25929701|PMID:25985138|PMID:26019114|PMID:26077850|PMID:26118460|PMID:26159999|PMID:26187847|PMID:26228265|PMID:26318259|PMID:26346102|PMID:26385840|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26743238|PMID:26937405|PMID:27000522|PMID:27041096|PMID:27041150|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27379800|PMID:27451284|PMID:27470144|PMID:27650965|PMID:27690226|PMID:27707468|PMID:27761162|PMID:27810088|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27871843|PMID:27884173|PMID:27920829|PMID:28302345|PMID:28360401|PMID:28364778|PMID:28383569|PMID:28438721|PMID:28449774|PMID:28492532|PMID:28518168|PMID:28588847|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28944242|PMID:28988457|PMID:29037160|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29372044|PMID:29379719|PMID:29449639|PMID:29532034|PMID:29544605|PMID:29598884|PMID:29654130|PMID:29661707|PMID:29677589|PMID:29740400|PMID:29790872|PMID:29876285|PMID:29922582|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30571187 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9008197 Familial Atrial Fibrillation 3 ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 3 PMID:30615648|PMID:30755392|PMID:30847666|PMID:30935642|PMID:30967788|PMID:30974404|PMID:31043699|PMID:31226583|PMID:31315195|PMID:31427586|PMID:31447099|PMID:31565860|PMID:31589614|PMID:31638414|PMID:31696929|PMID:31737537|PMID:31994352|PMID:32048431|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32686758|PMID:32695137|PMID:32917565|PMID:32936022|PMID:33087929|PMID:33181513|PMID:33600800|PMID:33693037|PMID:33777698|PMID:33876311|PMID:34135346|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34428338|PMID:34505893|PMID:34697415|PMID:35442947|PMID:8487283|PMID:9312006|PMID:9323054|PMID:9386136|PMID:9536098|PMID:9641694|PMID:9799083|PMID:9927399 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9008681 Deafness ISO RGD:621503 D RGD:9068941 20200609 RGD DNA:deletion:exon (rat) PMID:16368876|REF_RGD_ID:1581602 11917071 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711366|PMID:18711367|PMID:26551672 11917095 RPL3L ribosomal protein L3 like gene DOID:0050700 cardiomyopathy ISO RGD:1314865 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:32514796|PMID:32870709 11917095 RPL3L ribosomal protein L3 like gene DOID:0060224 atrial fibrillation ISO RGD:1314865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 11917095 RPL3L ribosomal protein L3 like gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1314865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 11917095 RPL3L ribosomal protein L3 like gene DOID:0081160 dilated cardiomyopathy 2D ISO RGD:1314865 D RGD:7240710 20210616 OMIM 11917095 RPL3L ribosomal protein L3 like gene DOID:0081160 dilated cardiomyopathy 2D ISO RGD:1314865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2D PMID:25741868|PMID:32514796|PMID:32870709 11917095 RPL3L ribosomal protein L3 like gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1314865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11917095 RPL3L ribosomal protein L3 like gene DOID:1826 epilepsy ISO RGD:1314865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11917095 RPL3L ribosomal protein L3 like gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1314865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11917095 RPL3L ribosomal protein L3 like gene DOID:630 genetic disease ISO RGD:1314865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917095 RPL3L ribosomal protein L3 like gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1314865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 11917109 HSD17B6 hydroxysteroid 17-beta dehydrogenase 6 gene DOID:630 genetic disease ISO RGD:1602229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917109 HSD17B6 hydroxysteroid 17-beta dehydrogenase 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602229 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 11917133 SHD Src homology 2 domain containing transforming protein D gene DOID:13938 amenorrhea ISO RGD:1601984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11917133 SHD Src homology 2 domain containing transforming protein D gene DOID:630 genetic disease ISO RGD:1601984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917169 LOC103785201 keratin-associated protein 21-1 gene DOID:630 genetic disease ISO RGD:1346788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917182 FNTA farnesyltransferase, CAAX box, alpha gene DOID:0090039 torsion dystonia 6 ISO RGD:730816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 11917182 FNTA farnesyltransferase, CAAX box, alpha gene DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 ISO RGD:730816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 PMID:28492532 11917182 FNTA farnesyltransferase, CAAX box, alpha gene DOID:0111393 mucopolysaccharidosis type IIIC ISO RGD:730816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C PMID:28492532 11917182 FNTA farnesyltransferase, CAAX box, alpha gene DOID:0111959 immunodeficiency 15B ISO RGD:730816 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 11917182 FNTA farnesyltransferase, CAAX box, alpha gene DOID:630 genetic disease ISO RGD:730816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917182 FNTA farnesyltransferase, CAAX box, alpha gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:730816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:27726124 11917182 FNTA farnesyltransferase, CAAX box, alpha gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:730816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 11917196 TAS2R7 taste 2 receptor member 7 gene DOID:630 genetic disease ISO RGD:1347137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917201 LAMC2 laminin subunit gamma 2 gene DOID:0060737 junctional epidermolysis bullosa Herlitz type ISO RGD:1315384 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz PMID:11231327|PMID:11564184|PMID:11907499|PMID:15373767|PMID:16199547|PMID:16473856|PMID:17916201|PMID:20301304|PMID:25741868|PMID:27696112|PMID:28492532|PMID:31395954|PMID:7849725|PMID:8012114|PMID:8012393|PMID:8012394|PMID:8824879|PMID:8983017|PMID:9085255 11917201 LAMC2 laminin subunit gamma 2 gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISO RGD:1315384 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type PMID:11564184|PMID:25741868|PMID:27375110|PMID:28492532 11917201 LAMC2 laminin subunit gamma 2 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1315384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 11917201 LAMC2 laminin subunit gamma 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1315384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11917201 LAMC2 laminin subunit gamma 2 gene DOID:2187 amelogenesis imperfecta ISO RGD:1315384 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 PMID:25741868|PMID:28492532 11917201 LAMC2 laminin subunit gamma 2 gene DOID:3209 junctional epidermolysis bullosa ISO RGD:1315384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa PMID:11231327|PMID:11810295|PMID:11907499|PMID:15370542|PMID:15373767|PMID:15538630|PMID:16473856|PMID:17916201|PMID:21198797|PMID:21801158|PMID:25741868|PMID:26739954|PMID:28492532|PMID:28830826|PMID:31395954|PMID:31980526|PMID:9856849 11917201 LAMC2 laminin subunit gamma 2 gene DOID:3209 junctional epidermolysis bullosa susceptibility ISO RGD:1315384 D RGD:9068941 20200609 RGD DNA:splice-site mutation, deletion-insertion PMID:8012393|REF_RGD_ID:1600210 11917201 LAMC2 laminin subunit gamma 2 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:1315384 D RGD:9068941 20200609 RGD PMID:23124251|REF_RGD_ID:13793371 11917201 LAMC2 laminin subunit gamma 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1315384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30381462 11917201 LAMC2 laminin subunit gamma 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1315384 D RGD:9068941 20200609 RGD mRNA:increased expression:lung: PMID:10964684|REF_RGD_ID:13793368 11917201 LAMC2 laminin subunit gamma 2 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1315384 D RGD:9068941 20200609 RGD PMID:26180921|REF_RGD_ID:13793367 11917201 LAMC2 laminin subunit gamma 2 gene DOID:5082 liver cirrhosis ISO RGD:1315384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 11917201 LAMC2 laminin subunit gamma 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1315384 D RGD:9068941 20200609 RGD DNA:hyper-methylation:promoter: PMID:12855645|REF_RGD_ID:13793369 11917201 LAMC2 laminin subunit gamma 2 gene DOID:630 genetic disease ISO RGD:1315384 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11917201 LAMC2 laminin subunit gamma 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1315384 D RGD:9068941 20200609 RGD associated with lung squamous cell carcinoma; PMID:23124251|REF_RGD_ID:13793371 11917201 LAMC2 laminin subunit gamma 2 gene DOID:9000918 Disease Progression ISO RGD:1315384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30381462 11917201 LAMC2 laminin subunit gamma 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1315384 D RGD:9068941 20200609 RGD associated with lung adenocarcinoma; PMID:25591736|REF_RGD_ID:11075980 11917201 LAMC2 laminin subunit gamma 2 gene DOID:9001267 Junctional Epidermolysis Bullosa 3A, Intermediate ISO RGD:1315384 D RGD:7240710 20220608 OMIM 11917201 LAMC2 laminin subunit gamma 2 gene DOID:9001267 Junctional Epidermolysis Bullosa 3A, Intermediate ISO RGD:1315384 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3A, intermediate PMID:11564184|PMID:11810295|PMID:11907499|PMID:15538630|PMID:16199547|PMID:16473856|PMID:28492532|PMID:28830826 11917201 LAMC2 laminin subunit gamma 2 gene DOID:9001600 Wounds and Injuries ISO RGD:1315384 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15541073 11917201 LAMC2 laminin subunit gamma 2 gene DOID:9005152 Junctional Epidermolysis Bullosa 3B, Severe ISO RGD:1315384 D RGD:7240710 20220608 OMIM 11917201 LAMC2 laminin subunit gamma 2 gene DOID:9005152 Junctional Epidermolysis Bullosa 3B, Severe ISO RGD:1315384 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3B, severe PMID:10951251|PMID:11810295|PMID:11907499|PMID:15373767|PMID:16473856|PMID:17916201|PMID:20301304|PMID:25741868|PMID:28492532|PMID:7849725|PMID:8012114|PMID:8012393|PMID:8012394|PMID:8824879|PMID:8983017|PMID:9085255 11917201 LAMC2 laminin subunit gamma 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1315384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11917201 LAMC2 laminin subunit gamma 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11917231 DENND4C DENN domain containing 4C gene DOID:630 genetic disease ISO RGD:1318285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917277 SEC14L2 SEC14 like lipid binding 2 gene DOID:630 genetic disease ISO RGD:736725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917301 LOC100973697 40S ribosomal protein S10 gene DOID:0050553 JMP syndrome ISO RGD:733640 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11917301 LOC100973697 40S ribosomal protein S10 gene DOID:0111884 Diamond-Blackfan anemia 9 ISO RGD:733640 D RGD:7240710 20200610 OMIM 11917301 LOC100973697 40S ribosomal protein S10 gene DOID:0111884 Diamond-Blackfan anemia 9 ISO RGD:733640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 9 PMID:20116044|PMID:23718193|PMID:25741868|PMID:28492532 11917301 LOC100973697 40S ribosomal protein S10 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:733640 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:16199547|PMID:17576681|PMID:20116044|PMID:20159986|PMID:23718193|PMID:25741868|PMID:28065601|PMID:28132843|PMID:28492532|PMID:9536098 11917301 LOC100973697 40S ribosomal protein S10 gene DOID:630 genetic disease ISO RGD:733640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20116044|PMID:25741868|PMID:28492532 11917301 LOC100973697 40S ribosomal protein S10 gene DOID:9007874 Liver Failure ISO RGD:621024 D RGD:9068941 20200611 RGD PMID:501300|REF_RGD_ID:11040911 11917314 ARL14 ADP ribosylation factor like GTPase 14 gene DOID:630 genetic disease ISO RGD:1349632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917319 SIRT7 sirtuin 7 gene DOID:418 systemic scleroderma ISO RGD:1314170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25707573 11917319 SIRT7 sirtuin 7 gene DOID:630 genetic disease ISO RGD:1314170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917319 SIRT7 sirtuin 7 gene DOID:9004009 Reperfusion Injury ISO RGD:1314170 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28675767 11917319 SIRT7 sirtuin 7 gene DOID:9452 fatty liver disease ISO RGD:1314170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24210820 11917333 POFUT2 protein O-fucosyltransferase 2 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1316469 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11917333 POFUT2 protein O-fucosyltransferase 2 gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1316469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 11917333 POFUT2 protein O-fucosyltransferase 2 gene DOID:0110266 cataract 9 multiple types ISO RGD:1316469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11917333 POFUT2 protein O-fucosyltransferase 2 gene DOID:12849 autistic disorder ISO RGD:1316469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11917333 POFUT2 protein O-fucosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1316469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917333 POFUT2 protein O-fucosyltransferase 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1316469 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11917333 POFUT2 protein O-fucosyltransferase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11917333 POFUT2 protein O-fucosyltransferase 2 gene DOID:9263 homocystinuria ISO RGD:1316469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11917333 POFUT2 protein O-fucosyltransferase 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316469 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11917356 UBA7 ubiquitin like modifier activating enzyme 7 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 11917356 UBA7 ubiquitin like modifier activating enzyme 7 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 11917356 UBA7 ubiquitin like modifier activating enzyme 7 gene DOID:1059 intellectual disability ISO RGD:1318027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11917356 UBA7 ubiquitin like modifier activating enzyme 7 gene DOID:1749 squamous cell carcinoma ISO RGD:1318027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19014429 11917356 UBA7 ubiquitin like modifier activating enzyme 7 gene DOID:630 genetic disease ISO RGD:1318027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917356 UBA7 ubiquitin like modifier activating enzyme 7 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1318027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11917385 UBAC2 UBA domain containing 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1323278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 11917385 UBAC2 UBA domain containing 2 gene DOID:14701 propionic acidemia ISO RGD:1323278 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 11917385 UBAC2 UBA domain containing 2 gene DOID:4621 holoprosencephaly ISO RGD:1323278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 11917385 UBAC2 UBA domain containing 2 gene DOID:630 genetic disease ISO RGD:1323278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917385 UBAC2 UBA domain containing 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1323278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11917398 RTKN rhotekin gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1354382 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11917398 RTKN rhotekin gene DOID:543 dystonia ISO RGD:1354382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11917398 RTKN rhotekin gene DOID:630 genetic disease ISO RGD:1354382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917398 RTKN rhotekin gene DOID:684 hepatocellular carcinoma ISO RGD:1354382 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:27922690|REF_RGD_ID:19165144 11917398 RTKN rhotekin gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1354382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11917434 GPATCH8 G-patch domain containing 8 gene DOID:630 genetic disease ISO RGD:1604390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917458 LRRIQ3 leucine rich repeats and IQ motif containing 3 gene DOID:630 genetic disease ISO RGD:1603911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917493 CHAMP1 chromosome alignment maintaining phosphoprotein 1 gene DOID:0070070 autosomal dominant intellectual developmental disorder 40 ISO RGD:1322656 D RGD:7240710 20180130 OMIM 11917493 CHAMP1 chromosome alignment maintaining phosphoprotein 1 gene DOID:0070070 autosomal dominant intellectual developmental disorder 40 ISO RGD:1322656 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 40 PMID:21063390|PMID:23020937|PMID:24781758|PMID:25533962|PMID:25741868|PMID:25741869|PMID:26340335|PMID:26751395|PMID:27148580|PMID:28492532 11917493 CHAMP1 chromosome alignment maintaining phosphoprotein 1 gene DOID:1059 intellectual disability ISO RGD:1322656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disability with severe speech impairment PMID:23020937|PMID:24781758|PMID:25741868|PMID:26340335|PMID:26751395|PMID:27148580 11917493 CHAMP1 chromosome alignment maintaining phosphoprotein 1 gene DOID:2222 factor X deficiency ISO RGD:1322656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 11917493 CHAMP1 chromosome alignment maintaining phosphoprotein 1 gene DOID:630 genetic disease ISO RGD:1322656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21063390|PMID:23020937|PMID:24781758|PMID:25533962|PMID:25741868|PMID:26340335|PMID:26751395|PMID:27148580|PMID:28492532 11917493 CHAMP1 chromosome alignment maintaining phosphoprotein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11917493 CHAMP1 chromosome alignment maintaining phosphoprotein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1322656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11917508 BATF2 basic leucine zipper ATF-like transcription factor 2 gene DOID:0080600 COVID-19 ISO RGD:1602989 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11917508 BATF2 basic leucine zipper ATF-like transcription factor 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11917508 BATF2 basic leucine zipper ATF-like transcription factor 2 gene DOID:1059 intellectual disability ISO RGD:1602989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11917508 BATF2 basic leucine zipper ATF-like transcription factor 2 gene DOID:1909 melanoma ISO RGD:1602989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11917508 BATF2 basic leucine zipper ATF-like transcription factor 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11917508 BATF2 basic leucine zipper ATF-like transcription factor 2 gene DOID:2746 glycogen storage disease V ISO RGD:1602989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11917508 BATF2 basic leucine zipper ATF-like transcription factor 2 gene DOID:3070 high grade glioma ISO RGD:1602989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11917508 BATF2 basic leucine zipper ATF-like transcription factor 2 gene DOID:630 genetic disease ISO RGD:1602989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917522 MDH1B malate dehydrogenase 1B gene DOID:14557 primary pulmonary hypertension ISO RGD:1317321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11917522 MDH1B malate dehydrogenase 1B gene DOID:630 genetic disease ISO RGD:1317321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917522 MDH1B malate dehydrogenase 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11917546 POLR3F RNA polymerase III subunit F gene DOID:0111401 congenital dyserythropoietic anemia type II ISO RGD:1315038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II PMID:28492532 11917546 POLR3F RNA polymerase III subunit F gene DOID:630 genetic disease ISO RGD:1315038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917546 POLR3F RNA polymerase III subunit F gene DOID:9003532 IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC) ISO RGD:1315038 D RGD:7240710 20220629 OMIM 11917546 POLR3F RNA polymerase III subunit F gene DOID:9003532 IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC) ISO RGD:1315038 D RGD:8554872 20220628 ClinVar ClinVar Annotator: match by term: Immunodeficiency 101 (varicella zoster virus-specific) 11917560 CDC27 cell division cycle 27 gene DOID:10485 esophageal atresia ISO RGD:1312639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 11917560 CDC27 cell division cycle 27 gene DOID:1324 lung cancer ISO RGD:1312639 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 11917560 CDC27 cell division cycle 27 gene DOID:5409 lung small cell carcinoma ISO RGD:1312639 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 11917560 CDC27 cell division cycle 27 gene DOID:684 hepatocellular carcinoma ISO RGD:1312639 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 11917560 CDC27 cell division cycle 27 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11917560 CDC27 cell division cycle 27 gene DOID:9007098 Pulmonary Atresia ISO RGD:1312639 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia 11917607 REPS2 RALBP1 associated Eps domain containing 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11917607 REPS2 RALBP1 associated Eps domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1347143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11917607 REPS2 RALBP1 associated Eps domain containing 2 gene DOID:630 genetic disease ISO RGD:1347143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917607 REPS2 RALBP1 associated Eps domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11917607 REPS2 RALBP1 associated Eps domain containing 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1347143 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19776672 11917642 MTFMT mitochondrial methionyl-tRNA formyltransferase gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1604246 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder PMID:24033266|PMID:25058219|PMID:25741868 11917642 MTFMT mitochondrial methionyl-tRNA formyltransferase gene DOID:0080448 developmental and epileptic encephalopathy 48 ISO RGD:1604246 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 48 PMID:22499348|PMID:23499752|PMID:24461907|PMID:25741868|PMID:27290639|PMID:28492532|PMID:30369941|PMID:32577402 11917642 MTFMT mitochondrial methionyl-tRNA formyltransferase gene DOID:0110935 nemaline myopathy 6 ISO RGD:1604246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055|PMID:28492532 11917642 MTFMT mitochondrial methionyl-tRNA formyltransferase gene DOID:0111491 combined oxidative phosphorylation deficiency 15 ISO RGD:1604246 D RGD:7240710 20180130 OMIM 11917642 MTFMT mitochondrial methionyl-tRNA formyltransferase gene DOID:0111491 combined oxidative phosphorylation deficiency 15 ISO RGD:1604246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 15 PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25326635|PMID:25326637|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30911575|PMID:32577402 11917642 MTFMT mitochondrial methionyl-tRNA formyltransferase gene DOID:0112090 nuclear type mitochondrial complex I deficiency 27 ISO RGD:1604246 D RGD:7240710 20190315 OMIM 11917642 MTFMT mitochondrial methionyl-tRNA formyltransferase gene DOID:0112090 nuclear type mitochondrial complex I deficiency 27 ISO RGD:1604246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30911575|PMID:32577402 11917642 MTFMT mitochondrial methionyl-tRNA formyltransferase gene DOID:10907 microcephaly ISO RGD:1604246 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11917642 MTFMT mitochondrial methionyl-tRNA formyltransferase gene DOID:2717 Bloom syndrome ISO RGD:1604246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11917642 MTFMT mitochondrial methionyl-tRNA formyltransferase gene DOID:3652 Leigh disease ISO RGD:1604246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30911575 11917642 MTFMT mitochondrial methionyl-tRNA formyltransferase gene DOID:630 genetic disease ISO RGD:1604246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25044680|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30911575|PMID:32577402 11917642 MTFMT mitochondrial methionyl-tRNA formyltransferase gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1604246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30911575 11917642 MTFMT mitochondrial methionyl-tRNA formyltransferase gene DOID:9007661 Dwarfism ISO RGD:1604246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Short stature PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30911575 11917642 MTFMT mitochondrial methionyl-tRNA formyltransferase gene DOID:9256 colorectal cancer ISO RGD:1604246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11917668 POLG2 DNA polymerase gamma 2, accessory subunit gene DOID:0111525 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ISO RGD:1312978 D RGD:7240710 20180130 OMIM 11917668 POLG2 DNA polymerase gamma 2, accessory subunit gene DOID:0111525 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ISO RGD:1312978 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 PMID:16685652|PMID:21555342|PMID:22155748|PMID:22176657|PMID:23197651|PMID:23596069|PMID:24033266|PMID:25741868|PMID:26123486|PMID:26251896|PMID:27535533|PMID:27592148|PMID:28078310|PMID:28492532|PMID:29625556|PMID:30157269 11917668 POLG2 DNA polymerase gamma 2, accessory subunit gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:1312978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions PMID:21555342|PMID:25741868|PMID:28492532 11917668 POLG2 DNA polymerase gamma 2, accessory subunit gene DOID:12679 nephrocalcinosis ISO RGD:1312979 D RGD:9068941 20220825 MouseDO 11917668 POLG2 DNA polymerase gamma 2, accessory subunit gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1312978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 11917668 POLG2 DNA polymerase gamma 2, accessory subunit gene DOID:2476 hereditary spastic paraplegia ISO RGD:1312978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:21555342|PMID:22155748|PMID:22176657|PMID:23197651|PMID:23596069|PMID:24033266|PMID:25741868|PMID:26123486|PMID:26251896|PMID:27535533|PMID:28492532|PMID:31286721 11917668 POLG2 DNA polymerase gamma 2, accessory subunit gene DOID:630 genetic disease ISO RGD:1312978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11917668 POLG2 DNA polymerase gamma 2, accessory subunit gene DOID:9002169 MITOCHONDRIAL DNA DEPLETION SYNDROME 16B ISO RGD:1312978 D RGD:7240710 20210825 OMIM 11917668 POLG2 DNA polymerase gamma 2, accessory subunit gene DOID:9002169 MITOCHONDRIAL DNA DEPLETION SYNDROME 16B ISO RGD:1312978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) PMID:25741868|PMID:28492532 11917668 POLG2 DNA polymerase gamma 2, accessory subunit gene DOID:9004590 Acute Liver Failure ISO RGD:1312978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute hepatic failure PMID:25741868|PMID:27592148|PMID:28492532|PMID:30157269 11917668 POLG2 DNA polymerase gamma 2, accessory subunit gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1312979 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:retina,mitochondrion: PMID:22229649|REF_RGD_ID:8694187 11917668 POLG2 DNA polymerase gamma 2, accessory subunit gene DOID:9008345 Mitochondrial DNA Depletion Syndrome 16 ISO RGD:1312978 D RGD:7240710 20190904 OMIM 11917668 POLG2 DNA polymerase gamma 2, accessory subunit gene DOID:9008345 Mitochondrial DNA Depletion Syndrome 16 ISO RGD:1312978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 16 (hepatic type) PMID:25741868|PMID:28492532 11917685 MAP1S microtubule associated protein 1S gene DOID:630 genetic disease ISO RGD:1317942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917697 MOV10 Mov10 RISC complex RNA helicase gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1321654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 11917697 MOV10 Mov10 RISC complex RNA helicase gene DOID:10763 hypertension susceptibility ISO RGD:1321654 D RGD:9068941 20200609 RGD DNA:SNP: :rs2932538(human) PMID:24338417|REF_RGD_ID:13513987 11917697 MOV10 Mov10 RISC complex RNA helicase gene DOID:13938 amenorrhea ISO RGD:1321654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11917697 MOV10 Mov10 RISC complex RNA helicase gene DOID:5426 primary ovarian insufficiency ISO RGD:1321654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11917697 MOV10 Mov10 RISC complex RNA helicase gene DOID:630 genetic disease ISO RGD:1321654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917745 LOC100984505 olfactory receptor 1S2 gene DOID:10283 prostate cancer ISO RGD:1344670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11917745 LOC100984505 olfactory receptor 1S2 gene DOID:1059 intellectual disability ISO RGD:1344670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11917745 LOC100984505 olfactory receptor 1S2 gene DOID:630 genetic disease ISO RGD:1344670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917748 CASP2 caspase 2 gene DOID:1059 intellectual disability ISO RGD:1604850 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11917748 CASP2 caspase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1604850 D RGD:9068941 20200609 RGD PMID:12633148|REF_RGD_ID:13782269 11917748 CASP2 caspase 2 gene DOID:1824 status epilepticus disease_progression ISO RGD:69274 D RGD:9068941 20200609 RGD PMID:17627033|REF_RGD_ID:4107076 11917748 CASP2 caspase 2 gene DOID:3328 temporal lobe epilepsy disease_progression ISO RGD:1604850 D RGD:9068941 20200609 RGD PMID:17627033|REF_RGD_ID:4107076 11917748 CASP2 caspase 2 gene DOID:4450 renal cell carcinoma ISO RGD:1604850 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20208132 11917748 CASP2 caspase 2 gene DOID:630 genetic disease ISO RGD:1604850 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11917748 CASP2 caspase 2 gene DOID:9007096 Stroke ISO RGD:69274 D RGD:9068941 20200609 RGD PMID:12067235|REF_RGD_ID:4107080 11917771 CRLF3 cytokine receptor like factor 3 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1342810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 11917771 CRLF3 cytokine receptor like factor 3 gene DOID:1969 cerebral palsy ISO RGD:1342810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 11917771 CRLF3 cytokine receptor like factor 3 gene DOID:630 genetic disease ISO RGD:1342810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917771 CRLF3 cytokine receptor like factor 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1342810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 11917785 RAD51C RAD51 paralog C gene DOID:0050777 Joubert syndrome ISO RGD:1350974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11917785 RAD51C RAD51 paralog C gene DOID:0111096 Fanconi anemia complementation group O ISO RGD:1350974 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group O PMID:12442171|PMID:12966089|PMID:14704354|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:19763152|PMID:20052722|PMID:20307669|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22406018|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29020732|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30680046|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33047316|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34570441|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36988593|PMID:9536098 11917785 RAD51C RAD51 paralog C gene DOID:0111096 Fanconi anemia complementation group O susceptibility ISO RGD:1350974 D RGD:7240710 20230517 OMIM 11917785 RAD51C RAD51 paralog C gene DOID:10534 stomach cancer ISO RGD:1350974 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:16199547|PMID:17576681|PMID:20400964|PMID:21616938|PMID:21990120|PMID:22725699|PMID:24800917|PMID:25086635|PMID:25470109|PMID:25741868|PMID:26270727|PMID:26467025|PMID:26720728|PMID:26824983|PMID:27433846|PMID:27913932|PMID:28492532|PMID:28802053|PMID:29566657|PMID:30093976|PMID:30322717|PMID:30875412|PMID:30927251|PMID:31300551|PMID:31815095|PMID:32107557|PMID:33333735|PMID:33471991|PMID:36988593|PMID:9536098 11917785 RAD51C RAD51 paralog C gene DOID:10907 microcephaly ISO RGD:1350974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:32566746 11917785 RAD51C RAD51 paralog C gene DOID:13636 Fanconi anemia ISO RGD:1350974 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:20400964|PMID:20697805|PMID:20723205|PMID:21537932|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22725699|PMID:23117857|PMID:24082139|PMID:24504028|PMID:25086635|PMID:25470109|PMID:25741868|PMID:26057125|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26740214|PMID:27153395|PMID:28492532|PMID:32606146 11917785 RAD51C RAD51 paralog C gene DOID:1520 colon carcinoma ISO RGD:1350974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:16199547|PMID:20400964|PMID:21537932|PMID:21990120|PMID:22538716|PMID:23117857|PMID:24800917|PMID:25186627|PMID:25318351|PMID:25470109|PMID:25741868|PMID:26261251|PMID:26467025|PMID:26740214|PMID:28492532|PMID:29641532|PMID:30309722|PMID:30924587|PMID:30949688 11917785 RAD51C RAD51 paralog C gene DOID:1612 breast cancer ISO RGD:1350974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:21537932|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23149936|PMID:24082139|PMID:24315737|PMID:24504028|PMID:24800917|PMID:24993905|PMID:25086635|PMID:25154786|PMID:25292178|PMID:25470109|PMID:25741868|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26740214|PMID:26976419|PMID:27149507|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28829762|PMID:29416752|PMID:29458332|PMID:29566657|PMID:29785153|PMID:30306255|PMID:30374176|PMID:30426508|PMID:31874108|PMID:32659497|PMID:32885271|PMID:33471991|PMID:9536098 11917785 RAD51C RAD51 paralog C gene DOID:1612 breast cancer ISO RGD:1350974 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:21537932|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:24082139|PMID:24315737|PMID:24504028|PMID:24800917|PMID:24993905|PMID:25086635|PMID:25154786|PMID:25292178|PMID:25470109|PMID:25741868|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26740214|PMID:26976419|PMID:27149507|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28829762|PMID:29416752|PMID:29458332|PMID:29566657|PMID:29785153|PMID:30306255|PMID:30374176|PMID:30426508|PMID:31874108|PMID:32659497|PMID:32885271|PMID:33333735|PMID:33471991|PMID:9536098 11917785 RAD51C RAD51 paralog C gene DOID:1612 breast cancer ISO RGD:1350974 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:24082139|PMID:24315737|PMID:24504028|PMID:24800917|PMID:24993905|PMID:25086635|PMID:25154786|PMID:25292178|PMID:25470109|PMID:25741868|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740214|PMID:26976419|PMID:27149507|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28829762|PMID:29416752|PMID:29458332|PMID:29522266|PMID:29566657|PMID:29785153|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30949688|PMID:31874108|PMID:32068069|PMID:32606146|PMID:32659497|PMID:32885271|PMID:33333735|PMID:33471991|PMID:33858678|PMID:35565380|PMID:9536098 11917785 RAD51C RAD51 paralog C gene DOID:2394 ovarian cancer ISO RGD:1350974 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:20400964|PMID:21537932|PMID:21597919|PMID:21980511|PMID:22167183|PMID:23117857|PMID:25186627|PMID:25292178|PMID:25338684|PMID:25470109|PMID:25741868|PMID:25980754|PMID:26467025|PMID:27443514|PMID:28492532|PMID:28864920|PMID:29158291|PMID:29263802|PMID:29641532|PMID:30093976|PMID:30982232|PMID:31567591|PMID:32068069|PMID:32566746|PMID:32658311|PMID:33471991|PMID:34284872|PMID:34426522|PMID:35039523 11917785 RAD51C RAD51 paralog C gene DOID:2871 endometrial carcinoma ISO RGD:1350974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:20400964|PMID:21990120|PMID:24800917|PMID:25741868|PMID:26681312|PMID:26687385|PMID:26822949|PMID:28492532|PMID:32295079 11917785 RAD51C RAD51 paralog C gene DOID:3459 breast carcinoma ISO RGD:1350974 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:20400964|PMID:21990120|PMID:22538716|PMID:22725699|PMID:23117857|PMID:24240112|PMID:24800917|PMID:25086635|PMID:25470109|PMID:25741868|PMID:26261251|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740214|PMID:26976419|PMID:27433846|PMID:27913932|PMID:28492532|PMID:28588062|PMID:30322717|PMID:30847381|PMID:30949688|PMID:31300551|PMID:32658311|PMID:33077847|PMID:33471991|PMID:36988593 11917785 RAD51C RAD51 paralog C gene DOID:5426 primary ovarian insufficiency ISO RGD:1350974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure | ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:21537932|PMID:22476429|PMID:22538716|PMID:23117857|PMID:25186627|PMID:25318351|PMID:25470109|PMID:25741868|PMID:26261251|PMID:26467025|PMID:26740214|PMID:28492532|PMID:29641532|PMID:30309722|PMID:30924587 11917785 RAD51C RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30651582|PMID:30772928|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31472684|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32090079|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32659497|PMID:32832836|PMID:32885271|PMID:32957588|PMID:33134171|PMID:33471991|PMID:9536098 11917785 RAD51C RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350974 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29522266|PMID:29566657|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30651582|PMID:30772928|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31472684|PMID:31782267|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32659497|PMID:32832836|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33134171|PMID:33333735|PMID:33471991|PMID:9536098 11917785 RAD51C RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350974 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30651582|PMID:30772928|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31472684|PMID:31782267|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33134171|PMID:33258288|PMID:33326660|PMID:33333735|PMID:33471991|PMID:34426522|PMID:9536098 11917785 RAD51C RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350974 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30651582|PMID:30772928|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31472684|PMID:31782267|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33134171|PMID:33258288|PMID:33326660|PMID:33333735|PMID:33471991|PMID:34426522|PMID:35806449|PMID:9536098 11917785 RAD51C RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350974 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12966089|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35565380|PMID:35740625|PMID:35806449|PMID:9536098 11917785 RAD51C RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350974 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12966089|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:9536098 11917785 RAD51C RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350974 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12966089|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36988593|PMID:9536098 11917785 RAD51C RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome susceptibility ISO RGD:1350974 D RGD:7240710 20230517 OMIM 11917785 RAD51C RAD51 paralog C gene DOID:630 genetic disease ISO RGD:1350974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11917785 RAD51C RAD51 paralog C gene DOID:6901 familiar ovarian carcinoma ISO RGD:1350974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial ovarian carcinoma PMID:33832919 11917785 RAD51C RAD51 paralog C gene DOID:9002762 Ovarian Neoplasms ISO RGD:1350974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:16199547|PMID:20400963|PMID:20400964|PMID:21616938|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22538716|PMID:23117857|PMID:23176254|PMID:24139550|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24800917|PMID:25086635|PMID:25452441|PMID:25470109|PMID:25741868|PMID:26261251|PMID:26354865|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26848151|PMID:27230542|PMID:27433846|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28767289|PMID:28802053|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29416752|PMID:29522266|PMID:29625052|PMID:29922827|PMID:30216591|PMID:30306255|PMID:30426508|PMID:30927251|PMID:31874108|PMID:32295079|PMID:32359370|PMID:32659497|PMID:32854451|PMID:32885271|PMID:33471991 11917785 RAD51C RAD51 paralog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350974 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12442171|PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23149936|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30924587|PMID:30927251|PMID:30949688|PMID:31159747|PMID:31173646|PMID:31300551|PMID:31422574|PMID:31742824|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32295079|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32885271|PMID:32957588|PMID:33471991|PMID:9536098 11917785 RAD51C RAD51 paralog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350974 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12442171|PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30924587|PMID:30949688|PMID:31159747|PMID:31173646|PMID:31300551|PMID:31422574|PMID:31742824|PMID:31782267|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33258288|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33858678|PMID:34426522|PMID:35806449|PMID:9536098 11917785 RAD51C RAD51 paralog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350974 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12442171|PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30924587|PMID:30949688|PMID:31159747|PMID:31173646|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31742824|PMID:31782267|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33258288|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33858678|PMID:34426522|PMID:35806449|PMID:9536098 11917785 RAD51C RAD51 paralog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350974 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12442171|PMID:12853621|PMID:12966089|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35565380|PMID:35740625|PMID:35806449|PMID:9536098 11917785 RAD51C RAD51 paralog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12442171|PMID:12853621|PMID:12966089|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35565380|PMID:35740625|PMID:35806449|PMID:9536098 11917785 RAD51C RAD51 paralog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350974 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12442171|PMID:12853621|PMID:12966089|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:9536098 11917785 RAD51C RAD51 paralog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350974 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12442171|PMID:12853621|PMID:12966089|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34570441|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36988593|PMID:9536098 11917785 RAD51C RAD51 paralog C gene DOID:9008939 Breast Neoplasms ISO RGD:1350974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20400964|PMID:28825726 11917785 RAD51C RAD51 paralog C gene DOID:9008952 Breast Cancer, Familial ISO RGD:1350974 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:20400964|PMID:21616938|PMID:21750962|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22538716|PMID:22725699|PMID:24315737|PMID:24504028|PMID:24800917|PMID:24993905|PMID:25292178|PMID:25470109|PMID:25741868|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26740214|PMID:26976419|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27978560|PMID:28492532|PMID:28678401|PMID:28829762|PMID:29458332|PMID:29785153|PMID:30374176 11917785 RAD51C RAD51 paralog C gene DOID:9460 uterine corpus cancer ISO RGD:1350974 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:12966089|PMID:17576681|PMID:22538716|PMID:24139550|PMID:25741868|PMID:26057125|PMID:26681312|PMID:27616075|PMID:27621404|PMID:28492532|PMID:28905878|PMID:29255180|PMID:29978187|PMID:30086788|PMID:30257646|PMID:30374176|PMID:31843900|PMID:31882575|PMID:32295079|PMID:32854451|PMID:33333735|PMID:9536098 11917800 MTX2 metaxin 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1315110 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11917800 MTX2 metaxin 2 gene DOID:11372 megacolon ISO RGD:1315110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11917800 MTX2 metaxin 2 gene DOID:630 genetic disease ISO RGD:1315110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917800 MTX2 metaxin 2 gene DOID:9007744 Mandibuloacral Dysplasia Progeroid Syndrome ISO RGD:1315110 D RGD:7240710 20201223 OMIM 11917800 MTX2 metaxin 2 gene DOID:9007744 Mandibuloacral Dysplasia Progeroid Syndrome ISO RGD:1315110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progeroid mandibuloacral dysplasia PMID:32917887 11917817 MPP3 MAGUK p55 scaffold protein 3 gene DOID:630 genetic disease ISO RGD:1343815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917848 RRP9 ribosomal RNA processing 9, U3 small nucleolar RNA binding protein gene DOID:630 genetic disease ISO RGD:1317332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917848 RRP9 ribosomal RNA processing 9, U3 small nucleolar RNA binding protein gene DOID:9000217 Stomach Neoplasms ISO RGD:1317332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11917848 RRP9 ribosomal RNA processing 9, U3 small nucleolar RNA binding protein gene DOID:9000918 Disease Progression ISO RGD:1317332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11917871 DBNDD2 dysbindin domain containing 2 gene DOID:2234 focal epilepsy ISO RGD:1313063 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11917871 DBNDD2 dysbindin domain containing 2 gene DOID:630 genetic disease ISO RGD:1313063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917871 DBNDD2 dysbindin domain containing 2 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1313063 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11917871 DBNDD2 dysbindin domain containing 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11917905 GSTM3 glutathione S-transferase mu 3 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1349768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11917905 GSTM3 glutathione S-transferase mu 3 gene DOID:10652 Alzheimer's disease ISO RGD:1349768 D RGD:9068941 20200609 RGD PMID:15621212|REF_RGD_ID:5688745 11917905 GSTM3 glutathione S-transferase mu 3 gene DOID:10652 Alzheimer's disease ISO RGD:1349768 D RGD:9068941 20200609 RGD DNA:SNP:cds: rs7483 (human) PMID:18423940|REF_RGD_ID:5688729 11917905 GSTM3 glutathione S-transferase mu 3 gene DOID:12849 autistic disorder ISO RGD:1349768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11917905 GSTM3 glutathione S-transferase mu 3 gene DOID:1485 cystic fibrosis ISO RGD:1349768 D RGD:9068941 20200609 RGD PMID:15115915|REF_RGD_ID:5135040 11917905 GSTM3 glutathione S-transferase mu 3 gene DOID:2377 multiple sclerosis disease_progression ISO RGD:1349768 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:10680782|REF_RGD_ID:5490267 11917905 GSTM3 glutathione S-transferase mu 3 gene DOID:2596 larynx cancer ISO RGD:1349768 D RGD:9068941 20200609 RGD PMID:10067818|REF_RGD_ID:5135043 11917905 GSTM3 glutathione S-transferase mu 3 gene DOID:2841 asthma ISO RGD:1349768 D RGD:9068941 20200609 RGD PMID:17550934|REF_RGD_ID:5135038 11917905 GSTM3 glutathione S-transferase mu 3 gene DOID:2841 asthma ISO RGD:1349768 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:11470996|REF_RGD_ID:5135039 11917905 GSTM3 glutathione S-transferase mu 3 gene DOID:3070 high grade glioma ISO RGD:1349768 D RGD:9068941 20200609 RGD DNA: deletion: intron 6 PMID:16598069|REF_RGD_ID:5688743 11917905 GSTM3 glutathione S-transferase mu 3 gene DOID:3347 osteosarcoma ISO RGD:1349768 D RGD:9068941 20200609 RGD PMID:20577141|REF_RGD_ID:5135042 11917905 GSTM3 glutathione S-transferase mu 3 gene DOID:3565 meningioma ISO RGD:1349768 D RGD:9068941 20200609 RGD DNA: deletion: intron 6 PMID:16598069|REF_RGD_ID:5688743 11917905 GSTM3 glutathione S-transferase mu 3 gene DOID:4448 macular degeneration ISO RGD:1349768 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:pigmented layer of retina (human) PMID:22410570|REF_RGD_ID:12792247 11917905 GSTM3 glutathione S-transferase mu 3 gene DOID:630 genetic disease ISO RGD:1349768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917905 GSTM3 glutathione S-transferase mu 3 gene DOID:9001341 Chloracne ISO RGD:1349768 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 11917905 GSTM3 glutathione S-transferase mu 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349768 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14968442 11917905 GSTM3 glutathione S-transferase mu 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349768 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25743375 11917905 GSTM3 glutathione S-transferase mu 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1349768 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 11917905 GSTM3 glutathione S-transferase mu 3 gene DOID:9675 pulmonary emphysema ISO RGD:1349768 D RGD:9068941 20200609 RGD PMID:19723343|REF_RGD_ID:5135041 11917922 RRAGC Ras related GTP binding C gene DOID:0050873 follicular lymphoma ISO RGD:1323384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26691987 11917922 RRAGC Ras related GTP binding C gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1323384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11917922 RRAGC Ras related GTP binding C gene DOID:630 genetic disease ISO RGD:1323384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917934 EMG1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:0050684 Bowen-Conradi syndrome ISO RGD:1607076 D RGD:7240710 20180130 OMIM 11917934 EMG1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:0050684 Bowen-Conradi syndrome ISO RGD:1607076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bowen-Conradi syndrome PMID:19463982|PMID:25741868|PMID:28492532 11917934 EMG1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1607076 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11917934 EMG1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1607076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11917934 EMG1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1607076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11917934 EMG1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1607076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11917934 EMG1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:0111621 Temtamy syndrome ISO RGD:1607076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11917934 EMG1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1607076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11917934 EMG1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:630 genetic disease ISO RGD:1607076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917934 EMG1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1607076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11917946 TASL TLR adaptor interacting with endolysosomal SLC15A4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11917946 TASL TLR adaptor interacting with endolysosomal SLC15A4 gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:1347440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked PMID:17504899|PMID:20685758|PMID:21408189|PMID:26980296|PMID:28492532 11917946 TASL TLR adaptor interacting with endolysosomal SLC15A4 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1347440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:12632325|PMID:19937601|PMID:22510846|PMID:23453023|PMID:24302611|PMID:24504883|PMID:28492532|PMID:31705731 11917946 TASL TLR adaptor interacting with endolysosomal SLC15A4 gene DOID:12849 autistic disorder ISO RGD:1347440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11917946 TASL TLR adaptor interacting with endolysosomal SLC15A4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11917946 TASL TLR adaptor interacting with endolysosomal SLC15A4 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1347440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 11917953 NAT10 N-acetyltransferase 10 gene DOID:1059 intellectual disability ISO RGD:1605376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11917953 NAT10 N-acetyltransferase 10 gene DOID:630 genetic disease ISO RGD:1605376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11917986 DOCK11 dedicator of cytokinesis 11 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11917986 DOCK11 dedicator of cytokinesis 11 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1348616 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 11917986 DOCK11 dedicator of cytokinesis 11 gene DOID:12849 autistic disorder ISO RGD:1348616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11917986 DOCK11 dedicator of cytokinesis 11 gene DOID:630 genetic disease ISO RGD:1348616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918029 MRPL46 mitochondrial ribosomal protein L46 gene DOID:10283 prostate cancer ISO RGD:1319287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11918029 MRPL46 mitochondrial ribosomal protein L46 gene DOID:2717 Bloom syndrome ISO RGD:1319287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11918029 MRPL46 mitochondrial ribosomal protein L46 gene DOID:630 genetic disease ISO RGD:1319287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918029 MRPL46 mitochondrial ribosomal protein L46 gene DOID:9256 colorectal cancer ISO RGD:1319287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11918043 CCDC68 coiled-coil domain containing 68 gene DOID:1059 intellectual disability ISO RGD:1601959 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11918043 CCDC68 coiled-coil domain containing 68 gene DOID:630 genetic disease ISO RGD:1601959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918043 CCDC68 coiled-coil domain containing 68 gene DOID:9007479 Habitual Abortions ISO RGD:1601959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent spontaneous abortion 11918060 FBP1 fructose-bisphosphatase 1 gene DOID:12642 hiatus hernia ISO RGD:735552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hiatus hernia 11918060 FBP1 fructose-bisphosphatase 1 gene DOID:14330 Parkinson's disease ISO RGD:735552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18353766 11918060 FBP1 fructose-bisphosphatase 1 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:735552 D RGD:7240710 20180130 OMIM 11918060 FBP1 fructose-bisphosphatase 1 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:735552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fructose-biphosphatase deficiency PMID:11286391|PMID:12126934|PMID:17576681|PMID:19259699|PMID:20096900|PMID:23881342|PMID:25601412|PMID:25741868|PMID:26549536|PMID:27101822|PMID:28420223|PMID:28492532|PMID:28776561|PMID:29016355|PMID:29203193|PMID:29774539|PMID:29774540|PMID:29774541|PMID:29774542|PMID:29774543|PMID:29774544|PMID:29774545|PMID:30193751|PMID:30858132|PMID:30927757|PMID:7763253|PMID:9382095|PMID:9536098 11918060 FBP1 fructose-bisphosphatase 1 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:735552 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Fructose-biphosphatase deficiency PMID:11286391|PMID:12126934|PMID:17576681|PMID:19259699|PMID:20096900|PMID:23881342|PMID:25601412|PMID:25741868|PMID:26549536|PMID:27101822|PMID:28420223|PMID:28492532|PMID:28776561|PMID:29016355|PMID:29203193|PMID:29774539|PMID:29774540|PMID:29774541|PMID:29774542|PMID:29774543|PMID:29774544|PMID:29774545|PMID:30193751|PMID:30858132|PMID:30927757|PMID:31584309|PMID:7763253|PMID:9382095|PMID:9536098 11918060 FBP1 fructose-bisphosphatase 1 gene DOID:5419 schizophrenia ISO RGD:735552 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11918060 FBP1 fructose-bisphosphatase 1 gene DOID:630 genetic disease ISO RGD:735552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25601412|PMID:25741868|PMID:26549536|PMID:28420223|PMID:28492532|PMID:28776561|PMID:30193751|PMID:30927757|PMID:7763253|PMID:9382095 11918060 FBP1 fructose-bisphosphatase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22039417 11918060 FBP1 fructose-bisphosphatase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:735552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22039417 11918060 FBP1 fructose-bisphosphatase 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:735552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22039417 11918060 FBP1 fructose-bisphosphatase 1 gene DOID:9004590 Acute Liver Failure ISO RGD:735552 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 11918071 MEN1 menin 1 gene DOID:0050891 adrenal cortical adenoma ISO RGD:736443 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adrenocortical adenoma PMID:10647896 11918071 MEN1 menin 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:736443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11918071 MEN1 menin 1 gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:736443 D RGD:7240710 20180130 OMIM 11918071 MEN1 menin 1 gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:736443 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:10022445|PMID:10027401|PMID:10090472|PMID:10229909|PMID:103196|PMID:10366412|PMID:10395230|PMID:10395246|PMID:10398160|PMID:10424788|PMID:10435055|PMID:10439966|PMID:10534569|PMID:10548885|PMID:10576763|PMID:10594843|PMID:10598193|PMID:10612827|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10647896|PMID:10660339|PMID:10664520|PMID:10664521|PMID:10715991|PMID:10730900|PMID:10759881|PMID:10762295|PMID:10843194|PMID:10849016|PMID:10856877|PMID:10861493|PMID:10870030|PMID:10918183|PMID:10931102|PMID:10980535|PMID:10993647|PMID:11019489|PMID:11033760|PMID:11034102|PMID:11102994|PMID:11134142|PMID:11181266|PMID:11216636|PMID:11221882|PMID:11303512|PMID:11369988|PMID:11435815|PMID:11454510|PMID:11524904|PMID:11578300|PMID:11579199|PMID:11765051|PMID:11807402|PMID:11836268|PMID:11966739|PMID:12016470|PMID:12016472|PMID:12049533|PMID:12050235|PMID:12108687|PMID:12112656|PMID:12150335|PMID:12166655|PMID:12213668|PMID:12324758|PMID:12509449|PMID:12652570|PMID:12699448|PMID:12746426|PMID:12791038|PMID:12807514|PMID:14508515|PMID:14641000|PMID:14648742|PMID:14678300|PMID:14686752|PMID:14985373|PMID:15044367|PMID:15082967|PMID:15205994|PMID:15240620|PMID:15254225|PMID:15281352|PMID:15292304|PMID:15331604|PMID:15464422|PMID:15522929|PMID:15635078|PMID:15670192|PMID:15713725|PMID:15714081|PMID:15717658|PMID:15730416|PMID:15754732|PMID:15870131|PMID:15887103|PMID:16199547|PMID:16322378|PMID:16430712|PMID:16449969|PMID:16484744|PMID:16563611|PMID:16594911|PMID:16595707|PMID:16699310|PMID:16840830|PMID:17065424|PMID:17158764|PMID:17185897|PMID:17194968|PMID:17235589|PMID:17388795|PMID:17555499|PMID:17576681|PMID:17590169|PMID:17623761|PMID:17711922|PMID:17766710|PMID:17853334|PMID:17879353|PMID:17953629|PMID:18045958|PMID:18206547|PMID:18221402|PMID:18485119|PMID:18549467|PMID:18753103|PMID:18753104|PMID:18775714|PMID:19041010|PMID:19068082|PMID:19074834|PMID:19174080|PMID:19350320|PMID:19350420|PMID:19391077|PMID:19461164|PMID:19491073|PMID:19509103|PMID:19749796|PMID:19953642|PMID:20231234|PMID:20367983|PMID:20404349|PMID:20530095|PMID:20639902|PMID:20660572|PMID:20833329|PMID:20960638|PMID:21069576|PMID:21127195|PMID:21264250|PMID:21266030|PMID:21340156|PMID:21340165|PMID:21369528|PMID:21454242|PMID:21464564|PMID:21521296|PMID:21627674|PMID:21652691|PMID:21655742|PMID:21678021|PMID:21757704|PMID:21819486|PMID:21849858|PMID:21915802|PMID:21916912|PMID:21917868|PMID:22024364|PMID:22026581|PMID:22090276|PMID:22187299|PMID:22275377|PMID:22281890|PMID:22327296|PMID:22470073|PMID:22549346|PMID:22577108|PMID:22666734|PMID:22703879|PMID:22936661|PMID:22995991|PMID:23052745|PMID:23093699|PMID:23154721|PMID:23188049|PMID:23244744|PMID:23321498|PMID:23334809|PMID:23565397|PMID:23580576|PMID:23648481|PMID:23778871|PMID:23933118|PMID:24033266|PMID:24183932|PMID:24218143|PMID:24443791|PMID:24472025|PMID:24599222|PMID:24635524|PMID:24709560|PMID:24728327|PMID:24756045|PMID:24915123|PMID:24997771|PMID:25291050|PMID:25309600|PMID:25309785|PMID:25525159|PMID:25527055|PMID:25637381|PMID:25733923|PMID:25741868|PMID:25824098|PMID:26180530|PMID:26224587|PMID:26288158|PMID:26307114|PMID:26332594|PMID:26467025|PMID:26515642|PMID:26580448|PMID:26767918|PMID:26905068|PMID:27153395|PMID:27311764|PMID:27572829|PMID:27846313|PMID:27854218|PMID:27904855|PMID:28203045|PMID:28238068|PMID:28298337|PMID:28321559|PMID:28458907|PMID:28492532|PMID:28503312|PMID:2857681|PMID:28597079|PMID:28663159|PMID:28693130|PMID:28736585|PMID:28818680|PMID:28870973|PMID:28873162|PMID:28881068|PMID:28938468|PMID:28940393|PMID:28968916|PMID:29036195|PMID:29039523|PMID:29066490|PMID:29097378|PMID:29122330|PMID:29174091|PMID:29192238|PMID:29239255|PMID:29264567|PMID:29284071|PMID:29455199|PMID:29497973|PMID:29641532|PMID:29848728|PMID:29927501|PMID:30093976|PMID:30324798|PMID:30339208|PMID:30364322|PMID:30374176|PMID:30630164|PMID:30755392|PMID:30795813|PMID:30820182|PMID:30865533|PMID:30869828|PMID:31044390|PMID:31159747|PMID:31249555|PMID:31263451|PMID:31275768|PMID:31431315|PMID:31482957 11918071 MEN1 menin 1 gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:736443 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:31658439|PMID:31737856|PMID:32130200|PMID:32190804|PMID:32299109|PMID:32761341|PMID:32901291|PMID:32909176|PMID:33101196|PMID:33125695|PMID:33471991|PMID:33632163|PMID:33840689|PMID:34183184|PMID:34313384|PMID:34515662|PMID:34939938|PMID:35268848|PMID:35407574|PMID:35941657|PMID:564891|PMID:6108714|PMID:6837595|PMID:9064485|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9241276|PMID:9329390|PMID:9354421|PMID:9361035|PMID:9407947|PMID:9439676|PMID:9458074|PMID:9463336|PMID:9498491|PMID:9506756|PMID:9536098|PMID:9540988|PMID:9554741|PMID:9564891|PMID:9666051|PMID:9671073|PMID:9671267|PMID:9681840|PMID:9681842|PMID:9683585|PMID:9709921|PMID:9709922|PMID:9709985|PMID:9792884|PMID:9820618|PMID:9832038|PMID:9843042|PMID:9888389|PMID:9893679|PMID:9929977|PMID:9935177|PMID:9989505 11918071 MEN1 menin 1 gene DOID:10017 multiple endocrine neoplasia type 1 disease_progression ISO RGD:736444 D RGD:9068941 20200609 RGD DNA:deletion:exons PMID:19620250|REF_RGD_ID:2317293 11918071 MEN1 menin 1 gene DOID:10017 multiple endocrine neoplasia type 1 no_association ISO RGD:3078 D RGD:9068941 20200609 RGD PMID:12036912|REF_RGD_ID:619590 11918071 MEN1 menin 1 gene DOID:10579 leukodystrophy ISO RGD:736443 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:12652570|PMID:23321498|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30755392|PMID:30869828|PMID:31431315|PMID:32130200|PMID:32761341|PMID:34313384|PMID:34939938 11918071 MEN1 menin 1 gene DOID:1059 intellectual disability ISO RGD:736443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11918071 MEN1 menin 1 gene DOID:11202 primary hyperparathyroidism ISO RGD:736443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperparathyroidism PMID:18775714|PMID:22703879|PMID:24997771|PMID:25741868|PMID:26467025|PMID:28492532|PMID:564891|PMID:9215689 11918071 MEN1 menin 1 gene DOID:11714 gestational diabetes ISO RGD:736444 D RGD:9068941 20200609 RGD PMID:17975067|REF_RGD_ID:2317319 11918071 MEN1 menin 1 gene DOID:13543 hyperparathyroidism ISO RGD:736443 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism PMID:10022445|PMID:10027401|PMID:10090472|PMID:10229909|PMID:10366412|PMID:10398160|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10647896|PMID:10715991|PMID:10759881|PMID:10843194|PMID:10849016|PMID:10856877|PMID:10870030|PMID:10918183|PMID:10993647|PMID:11369988|PMID:11524904|PMID:11807402|PMID:11836268|PMID:11966739|PMID:12150335|PMID:12166655|PMID:12324758|PMID:12652570|PMID:12746426|PMID:15205994|PMID:15254225|PMID:15281352|PMID:15464422|PMID:15635078|PMID:15670192|PMID:15754732|PMID:15887103|PMID:16322378|PMID:16563611|PMID:16595707|PMID:16699310|PMID:17065424|PMID:17235589|PMID:17555499|PMID:17590169|PMID:17623761|PMID:17879353|PMID:17953629|PMID:18221402|PMID:18549467|PMID:20833329|PMID:21521296|PMID:21819486|PMID:21849858|PMID:22024364|PMID:22187299|PMID:22703879|PMID:23093699|PMID:23321498|PMID:23334809|PMID:23933118|PMID:24033266|PMID:24728327|PMID:24997771|PMID:25309785|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26767918|PMID:27153395|PMID:28492532|PMID:28873162|PMID:30093976|PMID:30324798|PMID:30339208|PMID:30630164|PMID:30755392|PMID:30820182|PMID:30869828|PMID:31431315|PMID:31737856|PMID:32130200|PMID:32761341|PMID:33471991|PMID:34313384|PMID:34939938|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9354421|PMID:9407947|PMID:9439676|PMID:9463336|PMID:9683585|PMID:9709921|PMID:9820618|PMID:9888389|PMID:9935177 11918071 MEN1 menin 1 gene DOID:169 neuroendocrine tumor ISO RGD:736443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21252315 11918071 MEN1 menin 1 gene DOID:1793 pancreatic cancer ISO RGD:736443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17961653|PMID:21252315 11918071 MEN1 menin 1 gene DOID:1793 pancreatic cancer ISO RGD:736443 D RGD:9068941 20200609 RGD associated with Neuroendocrine Tumors; protein:increased expression:multiple organs PMID:17278096|REF_RGD_ID:2317340 11918071 MEN1 menin 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11918071 MEN1 menin 1 gene DOID:2394 ovarian cancer ISO RGD:736443 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:16563611|PMID:21819486|PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 11918071 MEN1 menin 1 gene DOID:2746 glycogen storage disease V ISO RGD:736443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11918071 MEN1 menin 1 gene DOID:3070 high grade glioma ISO RGD:736443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11918071 MEN1 menin 1 gene DOID:3125 multiple endocrine neoplasia ISO RGD:736443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Endocrine adenomatosis multiple | ClinVar Annotator: match by term: Multiple endocrine neoplasia PMID:10027401|PMID:10366412|PMID:10398160|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10664520|PMID:10715991|PMID:10759881|PMID:10762295|PMID:10856877|PMID:10870030|PMID:11369988|PMID:11524904|PMID:11578300|PMID:11579199|PMID:11807402|PMID:12112656|PMID:12150335|PMID:12166655|PMID:12746426|PMID:15205994|PMID:15254225|PMID:15281352|PMID:15331604|PMID:15464422|PMID:15754732|PMID:15887103|PMID:16199547|PMID:16449969|PMID:16595707|PMID:16699310|PMID:17235589|PMID:17590169|PMID:17623761|PMID:17853334|PMID:17953629|PMID:18221402|PMID:21521296|PMID:21819486|PMID:22470073|PMID:22666734|PMID:22703879|PMID:23334809|PMID:24218143|PMID:24728327|PMID:24997771|PMID:25309785|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27153395|PMID:27846313|PMID:28492532|PMID:29036195|PMID:30324798|PMID:30339208|PMID:30364322|PMID:30869828|PMID:31737856|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9354421|PMID:9407947|PMID:9683585|PMID:9709921|PMID:9820618|PMID:9888389|PMID:9935177 11918071 MEN1 menin 1 gene DOID:3315 lipoma ISO RGD:736443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lipoma, somatic PMID:10576763|PMID:10594843|PMID:10664520|PMID:10856877|PMID:12112656|PMID:14641000|PMID:15635078|PMID:17065424|PMID:17623761|PMID:17853334|PMID:17879353|PMID:17953629|PMID:18045958|PMID:20833329|PMID:23093699|PMID:24033266|PMID:24599222|PMID:24915123|PMID:25309785|PMID:25741868|PMID:26467025|PMID:27572829|PMID:28492532|PMID:28870973|PMID:28968916|PMID:29036195|PMID:30324798|PMID:30795813|PMID:9103196|PMID:9215690|PMID:9463336|PMID:9498491|PMID:9671267|PMID:9683585 11918071 MEN1 menin 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:736443 D RGD:9068941 20200609 RGD PMID:19170121|REF_RGD_ID:2317294 11918071 MEN1 menin 1 gene DOID:3892 insulinoma ISO RGD:736443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17961653 11918071 MEN1 menin 1 gene DOID:3892 insulinoma ISO RGD:736444 D RGD:9068941 20200609 RGD DNA:deletion:exon PMID:20138042|REF_RGD_ID:2317288 11918071 MEN1 menin 1 gene DOID:3892 insulinoma ISO RGD:736444 D RGD:9068941 20200609 RGD DNA:deletions:exons PMID:19208834|REF_RGD_ID:2317310 11918071 MEN1 menin 1 gene DOID:3892 insulinoma disease_progression ISO RGD:736444 D RGD:9068941 20200609 RGD DNA:deletion:exon PMID:12941803|REF_RGD_ID:2317292 11918071 MEN1 menin 1 gene DOID:3948 adrenocortical carcinoma ISO RGD:736443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747642 11918071 MEN1 menin 1 gene DOID:5394 prolactinoma ISO RGD:736444 D RGD:9068941 20220825 MouseDO OMIM:600634 11918071 MEN1 menin 1 gene DOID:5574 vipoma ISO RGD:736443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17961653 11918071 MEN1 menin 1 gene DOID:5577 gastrinoma ISO RGD:736443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17961653 11918071 MEN1 menin 1 gene DOID:5577 gastrinoma ISO RGD:736443 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:15944766|REF_RGD_ID:2317354 11918071 MEN1 menin 1 gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:736443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Somatotroph adenoma PMID:30630164 11918071 MEN1 menin 1 gene DOID:630 genetic disease ISO RGD:736443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11918071 MEN1 menin 1 gene DOID:657 adenoma ISO RGD:736444 D RGD:9068941 20200609 RGD DNA:deletion:exons PMID:12917331|REF_RGD_ID:2317273 11918071 MEN1 menin 1 gene DOID:7608 parathyroid adenoma ISO RGD:736443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid adenoma, somatic PMID:12016472|PMID:20231234|PMID:28492532|PMID:9241276|PMID:9820618 11918071 MEN1 menin 1 gene DOID:769 neuroblastoma ISO RGD:736443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:25741868 11918071 MEN1 menin 1 gene DOID:7959 duodenal gastrinoma ISO RGD:736443 D RGD:9068941 20200609 RGD associated with Neuroendocrine Tumors; DNA:loss of heterozygosity: : PMID:17135306|REF_RGD_ID:2317341 11918071 MEN1 menin 1 gene DOID:9000915 Angiofibroma ISO RGD:736443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angiofibroma, somatic PMID:9236523|PMID:9740255 11918071 MEN1 menin 1 gene DOID:9002211 Hyperalgesia ISO RGD:3078 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy;protein:increased expression:spinal cord dorsal horn (rat) PMID:20369282|REF_RGD_ID:9589142 11918071 MEN1 menin 1 gene DOID:9002234 Pituitary Neoplasms ISO RGD:736443 D RGD:9068941 20200609 RGD DNA, protein:mutations,polymorphisms, increased expression:Pituitary Gland PMID:12030908|REF_RGD_ID:2317360 11918071 MEN1 menin 1 gene DOID:9002928 Colonic Neoplasms severity ISO RGD:3078 D RGD:9068941 20200609 RGD PMID:15054094|REF_RGD_ID:1304318 11918071 MEN1 menin 1 gene DOID:9006608 Lung Carcinoid Tumors ISO RGD:736443 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lung carcinoid tumor PMID:11303512|PMID:11579199|PMID:12112656|PMID:12213668|PMID:15240620|PMID:15635078|PMID:15670192|PMID:17065424|PMID:17853334|PMID:17879353|PMID:19041010|PMID:21340156|PMID:22470073|PMID:23321498|PMID:24915123|PMID:25291050|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29036195|PMID:30324798|PMID:30339208|PMID:9215689|PMID:9361035|PMID:9463336 11918071 MEN1 menin 1 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:736443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial isolated hyperparathyroidism | ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:15292357|PMID:17623761|PMID:21819486|PMID:25741868|PMID:28492532 11918071 MEN1 menin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10022445|PMID:10027401|PMID:10090472|PMID:10229909|PMID:10366412|PMID:10395246|PMID:10398160|PMID:10439966|PMID:10576763|PMID:10594843|PMID:10598193|PMID:10612827|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10647896|PMID:10660339|PMID:10664520|PMID:10715991|PMID:10730900|PMID:10759881|PMID:10762295|PMID:10843194|PMID:10849016|PMID:10856877|PMID:10870030|PMID:10918183|PMID:10931102|PMID:10980535|PMID:10993646|PMID:10993647|PMID:11134142|PMID:11221882|PMID:11303512|PMID:11369988|PMID:11454510|PMID:11524904|PMID:11578300|PMID:11579199|PMID:11765051|PMID:11807402|PMID:11836268|PMID:11966739|PMID:12016470|PMID:12049533|PMID:12050235|PMID:12108687|PMID:12112656|PMID:12150335|PMID:12166655|PMID:12213668|PMID:12324758|PMID:12368203|PMID:12509449|PMID:12652570|PMID:12699448|PMID:12746426|PMID:12791038|PMID:12807514|PMID:14508515|PMID:14641000|PMID:14678300|PMID:14985373|PMID:15044367|PMID:15205994|PMID:15240620|PMID:15254225|PMID:15281352|PMID:15331604|PMID:15464422|PMID:15522929|PMID:15635078|PMID:15670192|PMID:15714081|PMID:15717658|PMID:15730416|PMID:15754732|PMID:15887103|PMID:16199547|PMID:16430712|PMID:16449969|PMID:16484744|PMID:16563611|PMID:16595707|PMID:16699310|PMID:16840830|PMID:17065424|PMID:17158764|PMID:17194968|PMID:17235589|PMID:17555499|PMID:17576681|PMID:17590169|PMID:17623761|PMID:17711922|PMID:17766710|PMID:17853334|PMID:17879353|PMID:17953629|PMID:18045958|PMID:18221402|PMID:18549467|PMID:18753103|PMID:18753104|PMID:19041010|PMID:19068082|PMID:19074834|PMID:19461164|PMID:19491073|PMID:20660572|PMID:20833329|PMID:21127195|PMID:21264250|PMID:21340156|PMID:21521296|PMID:21757704|PMID:21819486|PMID:21849858|PMID:21917868|PMID:22026581|PMID:22090276|PMID:22187299|PMID:22275377|PMID:22327296|PMID:22470073|PMID:22549346|PMID:22577108|PMID:22666734|PMID:22703879|PMID:22936661|PMID:22995991|PMID:23052745|PMID:23093699|PMID:23154721|PMID:23321498|PMID:23565397|PMID:23648481|PMID:23933118|PMID:24033266|PMID:24218143|PMID:24472025|PMID:24599222|PMID:24635524|PMID:24709560|PMID:24728327|PMID:24915123|PMID:24997771|PMID:25291050|PMID:25309785|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25824098|PMID:26239674|PMID:26332594|PMID:26467025|PMID:26767918|PMID:26905068|PMID:27153395|PMID:27212590|PMID:27572829|PMID:27846313|PMID:28166811|PMID:28492532|PMID:2857681|PMID:28693130|PMID:28736585|PMID:28870973|PMID:28881068|PMID:28940393|PMID:28968916|PMID:29036195|PMID:29097378|PMID:29239255|PMID:29264567|PMID:29497973|PMID:29641532|PMID:30324798|PMID:30339208|PMID:30795813|PMID:30820182|PMID:30869828|PMID:31159747|PMID:31275768|PMID:31431315|PMID:31482957|PMID:31737856|PMID:6108714|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9241276|PMID:9329390|PMID:9354421|PMID:9361035|PMID:9407947|PMID:9439676|PMID:9463336|PMID:9498491|PMID:9506756|PMID:9536098|PMID:9554741|PMID:9671267|PMID:9683585|PMID:9709921|PMID:9709922|PMID:9709985|PMID:9820618|PMID:9832038|PMID:9888389|PMID:9935177|PMID:9989505 11918071 MEN1 menin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736443 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10022445|PMID:10027401|PMID:10090472|PMID:10229909|PMID:10366412|PMID:10398160|PMID:10576763|PMID:10594843|PMID:10598193|PMID:10612827|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10647896|PMID:10660339|PMID:10664520|PMID:10715991|PMID:10730900|PMID:10759881|PMID:10762295|PMID:10843194|PMID:10849016|PMID:10856877|PMID:10870030|PMID:10918183|PMID:10980535|PMID:10993646|PMID:10993647|PMID:11134142|PMID:11221882|PMID:11303512|PMID:11369988|PMID:11454510|PMID:11524904|PMID:11578300|PMID:11579199|PMID:11765051|PMID:11807402|PMID:11836268|PMID:11966739|PMID:12016470|PMID:12049533|PMID:12050235|PMID:12112656|PMID:12150335|PMID:12166655|PMID:12213668|PMID:12324758|PMID:12368203|PMID:12509449|PMID:12652570|PMID:12699448|PMID:12746426|PMID:12791038|PMID:12807514|PMID:14508515|PMID:14641000|PMID:14678300|PMID:14985373|PMID:15044367|PMID:15205994|PMID:15240620|PMID:15254225|PMID:15281352|PMID:15331604|PMID:15464422|PMID:15522929|PMID:15635078|PMID:15670192|PMID:15714081|PMID:15717658|PMID:15730416|PMID:15754732|PMID:15887103|PMID:16199547|PMID:16322378|PMID:16430712|PMID:16449969|PMID:16484744|PMID:16563611|PMID:16595707|PMID:16699310|PMID:16840830|PMID:17065424|PMID:17158764|PMID:17194968|PMID:17235589|PMID:17555499|PMID:17576681|PMID:17590169|PMID:17623761|PMID:17711922|PMID:17766710|PMID:17853334|PMID:17879353|PMID:17953629|PMID:18045958|PMID:18221402|PMID:18549467|PMID:18753104|PMID:19041010|PMID:19068082|PMID:19074834|PMID:19461164|PMID:19491073|PMID:20660572|PMID:20833329|PMID:21127195|PMID:21264250|PMID:21340156|PMID:21521296|PMID:21757704|PMID:21819486|PMID:21849858|PMID:21917868|PMID:22024364|PMID:22026581|PMID:22090276|PMID:22187299|PMID:22275377|PMID:22327296|PMID:22470073|PMID:22549346|PMID:22577108|PMID:22666734|PMID:22703879|PMID:22936661|PMID:22995991|PMID:23052745|PMID:23093699|PMID:23154721|PMID:23321498|PMID:23334809|PMID:23565397|PMID:23648481|PMID:23933118|PMID:24033266|PMID:24472025|PMID:24599222|PMID:24635524|PMID:24709560|PMID:24728327|PMID:24915123|PMID:24997771|PMID:25291050|PMID:25309785|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25824098|PMID:26239674|PMID:26307114|PMID:26332594|PMID:26467025|PMID:26767918|PMID:26905068|PMID:27153395|PMID:27212590|PMID:27572829|PMID:28492532|PMID:2857681|PMID:28736585|PMID:28870973|PMID:28873162|PMID:28881068|PMID:28938468|PMID:28940393|PMID:28968916|PMID:29036195|PMID:29097378|PMID:29264567|PMID:29497973|PMID:29641532|PMID:30324798|PMID:30339208|PMID:30364322|PMID:30755392|PMID:30795813|PMID:30820182|PMID:30869828|PMID:31159747|PMID:31275768|PMID:31431315|PMID:31482957|PMID:31737856|PMID:32761341|PMID:33471991|PMID:34313384|PMID:6108714|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9241276|PMID:9329390|PMID:9354421|PMID:9361035|PMID:9407947|PMID:9439676|PMID:9463336|PMID:9498491|PMID:9506756|PMID:9536098|PMID:9554741|PMID:9671267|PMID:9683585|PMID:9709921|PMID:9709922|PMID:9709985|PMID:9820618|PMID:9888389|PMID:9935177|PMID:9989505 11918071 MEN1 menin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736443 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10022445|PMID:10027401|PMID:10090472|PMID:10229909|PMID:10366412|PMID:10398160|PMID:10424788|PMID:10435055|PMID:10534569|PMID:10576763|PMID:10594843|PMID:10598193|PMID:10612827|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10647896|PMID:10660339|PMID:10664520|PMID:10715991|PMID:10730900|PMID:10759881|PMID:10762295|PMID:10843194|PMID:10849016|PMID:10856877|PMID:10861493|PMID:10870030|PMID:10918183|PMID:10980535|PMID:10993646|PMID:10993647|PMID:11134142|PMID:11221882|PMID:11303512|PMID:11369988|PMID:11454510|PMID:11524904|PMID:11578300|PMID:11579199|PMID:11765051|PMID:11807402|PMID:11836268|PMID:11966739|PMID:12016470|PMID:12049533|PMID:12050235|PMID:12112656|PMID:12150335|PMID:12166655|PMID:12213668|PMID:12324758|PMID:12368203|PMID:12509449|PMID:12652570|PMID:12699448|PMID:12746426|PMID:12791038|PMID:12807514|PMID:14508515|PMID:14641000|PMID:14678300|PMID:14985373|PMID:15044367|PMID:15205994|PMID:15240620|PMID:15254225|PMID:15281352|PMID:15292304|PMID:15292357|PMID:15331604|PMID:15464422|PMID:15522929|PMID:15635078|PMID:15670192|PMID:15714081|PMID:15717658|PMID:15730416|PMID:15754732|PMID:15870131|PMID:15887103|PMID:16199547|PMID:16322378|PMID:16430712|PMID:16449969|PMID:16484744|PMID:16563611|PMID:16595707|PMID:16699310|PMID:16840830|PMID:17065424|PMID:17158764|PMID:17194968|PMID:17235589|PMID:17555499|PMID:17576681|PMID:17590169|PMID:17623761|PMID:17711922|PMID:17766710|PMID:17853334|PMID:17879353|PMID:17953629|PMID:18045958|PMID:18084346|PMID:18206547|PMID:18221402|PMID:18549467|PMID:18753104|PMID:18775714|PMID:19041010|PMID:19068082|PMID:19074834|PMID:19461164|PMID:19491073|PMID:19509103|PMID:20231234|PMID:20660572|PMID:20833329|PMID:21127195|PMID:21264250|PMID:21340156|PMID:21340165|PMID:21369528|PMID:21521296|PMID:21678021|PMID:21757704|PMID:21819486|PMID:21849858|PMID:21917868|PMID:22024364|PMID:22026581|PMID:22090276|PMID:22187299|PMID:22275377|PMID:22327296|PMID:22470073|PMID:22549346|PMID:22577108|PMID:22666734|PMID:22703879|PMID:22936661|PMID:22995991|PMID:23052745|PMID:23056405|PMID:23093699|PMID:23154721|PMID:23244744|PMID:23321498|PMID:23334809|PMID:23565397|PMID:23648481|PMID:23778871|PMID:23933118|PMID:24033266|PMID:24472025|PMID:24599222|PMID:24635524|PMID:24709560|PMID:24728327|PMID:24915123|PMID:24997771|PMID:25291050|PMID:25309785|PMID:25525159|PMID:25527055|PMID:25637381|PMID:25733923|PMID:25741868|PMID:25824098|PMID:26239674|PMID:26288158|PMID:26307114|PMID:26332594|PMID:26424307|PMID:26467025|PMID:26580448|PMID:26767918|PMID:26905068|PMID:27153395|PMID:27212590|PMID:27311764|PMID:27572829|PMID:27846313|PMID:28166811|PMID:28238068|PMID:28321559|PMID:28492532|PMID:2857681|PMID:28736585|PMID:28870973|PMID:28873162|PMID:28881068|PMID:28938468|PMID:28940393|PMID:28968916|PMID:29036195|PMID:29039523|PMID:29097378|PMID:29192238|PMID:29264567|PMID:29284071|PMID:29497973|PMID:29641532|PMID:29927501|PMID:30093976|PMID:30324798|PMID:30339208|PMID:30364322|PMID:30755392|PMID:30795813|PMID:30820182|PMID:30865533|PMID:30869828|PMID:31044390|PMID:31159747|PMID:31249555|PMID:31275768|PMID:31431315|PMID:31482957|PMID:31737856|PMID:32761341|PMID:32901291|PMID:33125695|PMID:33471991|PMID:34183184|PMID:34313384|PMID:34515662|PMID:35941657|PMID:6108714|PMID:6837595|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9241276|PMID:9329390|PMID:9354421|PMID:9361035|PMID:9407947|PMID:9439676|PMID:9463336|PMID:9498491|PMID:9506756|PMID:9536098|PMID:9540988|PMID:9554741|PMID:9671267|PMID:9683585|PMID:9709921|PMID:9709922|PMID:9709976|PMID:9709985|PMID:9820618|PMID:9832038|PMID:9888389|PMID:9893679|PMID:9935177|PMID:9989505 11918071 MEN1 menin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10022445|PMID:10027401|PMID:10090472|PMID:10229909|PMID:103196|PMID:10366412|PMID:10398160|PMID:10424788|PMID:10435055|PMID:10439966|PMID:10534569|PMID:10548885|PMID:10576763|PMID:10594843|PMID:10598193|PMID:10612827|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10647896|PMID:10660339|PMID:10664520|PMID:10715991|PMID:10730900|PMID:10759881|PMID:10762295|PMID:10843194|PMID:10849016|PMID:10856877|PMID:10861493|PMID:10870030|PMID:10918183|PMID:10931102|PMID:10980535|PMID:10993646|PMID:10993647|PMID:11019489|PMID:11033760|PMID:11134142|PMID:11181266|PMID:11221882|PMID:11302744|PMID:11303512|PMID:11369988|PMID:11454510|PMID:11524904|PMID:11578300|PMID:11579199|PMID:11765051|PMID:11807402|PMID:11836268|PMID:11966739|PMID:12016470|PMID:12049533|PMID:12050235|PMID:12108687|PMID:12112656|PMID:12145286|PMID:12150335|PMID:12166655|PMID:12213668|PMID:12324758|PMID:12368203|PMID:12509449|PMID:12652570|PMID:12699448|PMID:12746426|PMID:12791038|PMID:12807514|PMID:14508515|PMID:14641000|PMID:14678300|PMID:14985373|PMID:15044367|PMID:15205994|PMID:15240620|PMID:15254225|PMID:15281352|PMID:15292304|PMID:15292357|PMID:15331604|PMID:15464422|PMID:15522929|PMID:15635078|PMID:15670192|PMID:15714081|PMID:15717658|PMID:15730416|PMID:15754732|PMID:15870131|PMID:15887103|PMID:16199547|PMID:16322378|PMID:16430712|PMID:16449969|PMID:16484744|PMID:16563611|PMID:16595707|PMID:16699310|PMID:16840830|PMID:17065424|PMID:17158764|PMID:17194968|PMID:17235589|PMID:17388795|PMID:17555499|PMID:17576681|PMID:17590169|PMID:17623761|PMID:17711922|PMID:17766710|PMID:17853334|PMID:17879353|PMID:17953629|PMID:18045958|PMID:18084346|PMID:18206547|PMID:18221402|PMID:18485119|PMID:18549467|PMID:18753103|PMID:18753104|PMID:18775714|PMID:19041010|PMID:19068082|PMID:19074834|PMID:19461164|PMID:19491073|PMID:19509103|PMID:20231234|PMID:20660572|PMID:20833329|PMID:21127195|PMID:21264250|PMID:21340156|PMID:21340165|PMID:21369528|PMID:21521296|PMID:21678021|PMID:21757704|PMID:21819486|PMID:21849858|PMID:21917868|PMID:22024364|PMID:22026581|PMID:22090276|PMID:22187299|PMID:22275377|PMID:22327296|PMID:22470073|PMID:22549346|PMID:22577108|PMID:22666734|PMID:22703879|PMID:22936661|PMID:22995991|PMID:23052745|PMID:23056405|PMID:23093699|PMID:23154721|PMID:23244744|PMID:23321498|PMID:23334809|PMID:23565397|PMID:23648481|PMID:23778871|PMID:23933118|PMID:24033266|PMID:24183932|PMID:24218143|PMID:24472025|PMID:24599222|PMID:24635524|PMID:24709560|PMID:24728327|PMID:24915123|PMID:24997771|PMID:25291050|PMID:25309785|PMID:25525159|PMID:25527055|PMID:25637381|PMID:25733923|PMID:25741868|PMID:25824098|PMID:26180530|PMID:26239674|PMID:26288158|PMID:26307114|PMID:26332594|PMID:26424307|PMID:26467025|PMID:26515642|PMID:26580448|PMID:26767918|PMID:26905068|PMID:27153395|PMID:27212590|PMID:27311764|PMID:27572829|PMID:27846313|PMID:28238068|PMID:28298337|PMID:28321559|PMID:28492532|PMID:2857681|PMID:28693130|PMID:28736585|PMID:28870973|PMID:28873162|PMID:28881068|PMID:28938468|PMID:28940393|PMID:28968916|PMID:29036195|PMID:29039523|PMID:29097378|PMID:29192238|PMID:29239255|PMID:29264567|PMID:29284071|PMID:29497973|PMID:29641532|PMID:29927501|PMID:30093976|PMID:30324798|PMID:30339208|PMID:30364322|PMID:30755392|PMID:30795813|PMID:30820182|PMID:30865533|PMID:30869828|PMID:31044390|PMID:31159747|PMID:31249555|PMID:31263451|PMID:31275768|PMID:31431315|PMID:31482957|PMID:31737856|PMID:32130200|PMID:32241160|PMID:32761341|PMID:32901291|PMID:32909176|PMID:32937789|PMID:33101196|PMID:33125695|PMID:33471991|PMID:34183184|PMID:34313384|PMID:34515662|PMID:34939938|PMID:35268848|PMID:35323929|PMID:35941657|PMID:6108714|PMID:6837595|PMID:9064485|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9241276|PMID:9329390|PMID:9354421|PMID:9361035|PMID:9407947|PMID:9439676|PMID:9458074|PMID:9463336|PMID:9498491|PMID:9506756|PMID:9536098|PMID:9540988|PMID:9554741|PMID:9666051|PMID:9671073|PMID:9671267|PMID:9681840|PMID:9681842|PMID:9683585|PMID:9709921|PMID:9709922|PMID:9709976|PMID:9709985|PMID:9820618|PMID:9832038 11918071 MEN1 menin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:9888389|PMID:9893679|PMID:9935177|PMID:9989505 11918071 MEN1 menin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736443 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10022445|PMID:10027401|PMID:10090472|PMID:10229909|PMID:103196|PMID:10366412|PMID:10395246|PMID:10398160|PMID:10424788|PMID:10435055|PMID:10439966|PMID:10534569|PMID:10548885|PMID:10576763|PMID:10594843|PMID:10598193|PMID:10612827|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10647896|PMID:10660339|PMID:10664520|PMID:10715991|PMID:10730900|PMID:10759881|PMID:10762295|PMID:10843194|PMID:10849016|PMID:10856877|PMID:10861493|PMID:10870030|PMID:10918183|PMID:10931102|PMID:10980535|PMID:10993646|PMID:10993647|PMID:11019489|PMID:11033760|PMID:11134142|PMID:11181266|PMID:11221882|PMID:11302744|PMID:11303512|PMID:11369988|PMID:11454510|PMID:11524904|PMID:11578300|PMID:11579199|PMID:11765051|PMID:11807402|PMID:11836268|PMID:11966739|PMID:12016470|PMID:12049533|PMID:12050235|PMID:12108687|PMID:12112656|PMID:12145286|PMID:12150335|PMID:12166655|PMID:12213668|PMID:12324758|PMID:12368203|PMID:12509449|PMID:12652570|PMID:12699448|PMID:12746426|PMID:12791038|PMID:12807514|PMID:14508515|PMID:14641000|PMID:14678300|PMID:14985373|PMID:15044367|PMID:15205994|PMID:15240620|PMID:15254225|PMID:15281352|PMID:15292304|PMID:15292357|PMID:15331604|PMID:15464422|PMID:15522929|PMID:15635078|PMID:15670192|PMID:15714081|PMID:15717658|PMID:15730416|PMID:15754732|PMID:15870131|PMID:15887103|PMID:16199547|PMID:16322378|PMID:16430712|PMID:16449969|PMID:16484744|PMID:16563611|PMID:16595707|PMID:16699310|PMID:16794390|PMID:16840830|PMID:17065424|PMID:17158764|PMID:17194968|PMID:17235589|PMID:17388795|PMID:17555499|PMID:17576681|PMID:17590169|PMID:17623761|PMID:17711922|PMID:17766710|PMID:17853334|PMID:17879353|PMID:17953629|PMID:18045958|PMID:18084346|PMID:18206547|PMID:18221402|PMID:18485119|PMID:18549467|PMID:18753103|PMID:18753104|PMID:18775714|PMID:19041010|PMID:19068082|PMID:19074834|PMID:19461164|PMID:19491073|PMID:19509103|PMID:20231234|PMID:20660572|PMID:20833329|PMID:21127195|PMID:21264250|PMID:21340156|PMID:21340165|PMID:21369528|PMID:21521296|PMID:21655742|PMID:21678021|PMID:21757704|PMID:21819486|PMID:21849858|PMID:21917868|PMID:22024364|PMID:22026581|PMID:22090276|PMID:22187299|PMID:22275377|PMID:22327296|PMID:22470073|PMID:22549346|PMID:22577108|PMID:22666734|PMID:22703879|PMID:22936661|PMID:22995991|PMID:23052745|PMID:23056405|PMID:23093699|PMID:23154721|PMID:23244744|PMID:23321498|PMID:23334809|PMID:23565397|PMID:23648481|PMID:23778871|PMID:23933118|PMID:24033266|PMID:24183932|PMID:24218143|PMID:24472025|PMID:24599222|PMID:24635524|PMID:24709560|PMID:24728327|PMID:24915123|PMID:24997771|PMID:25291050|PMID:25309785|PMID:25525159|PMID:25527055|PMID:25637381|PMID:25733923|PMID:25741868|PMID:25824098|PMID:26180530|PMID:26239674|PMID:26288158|PMID:26307114|PMID:26332594|PMID:26424307|PMID:26467025|PMID:26515642|PMID:26580448|PMID:26767918|PMID:26905068|PMID:27153395|PMID:27212590|PMID:27311764|PMID:27572829|PMID:27846313|PMID:27854218|PMID:28238068|PMID:28298337|PMID:28321559|PMID:28492532|PMID:2857681|PMID:28693130|PMID:28736585|PMID:28870973|PMID:28873162|PMID:28881068|PMID:28938468|PMID:28940393|PMID:28968916|PMID:29036195|PMID:29039523|PMID:29097378|PMID:29192238|PMID:29239255|PMID:29264567|PMID:29284071|PMID:29497973|PMID:29641532|PMID:29927501|PMID:30032405|PMID:30093976|PMID:30324798|PMID:30339208|PMID:30364322|PMID:30755392|PMID:30795813|PMID:30820182|PMID:30865533|PMID:30869828|PMID:31044390|PMID:31159747|PMID:31249555|PMID:31263451|PMID:31275768|PMID:31431315|PMID:31482957|PMID:31737856|PMID:32130200|PMID:32241160|PMID:32761341|PMID:32901291|PMID:32909176|PMID:32937789|PMID:33101196|PMID:33125695|PMID:33471991|PMID:34183184|PMID:34313384|PMID:34515662|PMID:34939938|PMID:35268848|PMID:35323929|PMID:35941657|PMID:6108714|PMID:6837595|PMID:9064485|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9241276|PMID:9329390|PMID:9354421|PMID:9361035|PMID:9407947|PMID:9439676|PMID:9458074|PMID:9463336|PMID:9498491|PMID:9506756|PMID:9536098|PMID:9540988|PMID:9554741|PMID:9666051|PMID:9671073|PMID:9671267|PMID:9681840|PMID:9681842|PMID:9683585 11918071 MEN1 menin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736443 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:9709921|PMID:9709922|PMID:9709976|PMID:9709985|PMID:9820618|PMID:9832038|PMID:9888389|PMID:9893679|PMID:9935177|PMID:9989505 11918071 MEN1 menin 1 gene DOID:9007787 Carcinoid Tumor ISO RGD:736443 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:lung:PYGM,D11S449,D11S906(human) PMID:16465412|REF_RGD_ID:2317351 11918071 MEN1 menin 1 gene DOID:9007821 Glucagonoma ISO RGD:736443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17961653 11918071 MEN1 menin 1 gene DOID:9007821 Glucagonoma ISO RGD:736444 D RGD:9068941 20200609 RGD DNA:deletion:exon PMID:20138042|REF_RGD_ID:2317288 11918071 MEN1 menin 1 gene DOID:9008605 Hyperparathyroidism 3 ISO RGD:736443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial isolated hyperparathyroidism PMID:17623761|PMID:21819486|PMID:25741868|PMID:28492532 11918071 MEN1 menin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:25741868 11918169 FGF13 fibroblast growth factor 13 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11918169 FGF13 fibroblast growth factor 13 gene DOID:1059 intellectual disability ISO RGD:1553609 D RGD:9068941 20220825 MouseDO 11918169 FGF13 fibroblast growth factor 13 gene DOID:12849 autistic disorder ISO RGD:733500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11918169 FGF13 fibroblast growth factor 13 gene DOID:1793 pancreatic cancer ISO RGD:733500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19917848 11918169 FGF13 fibroblast growth factor 13 gene DOID:9000663 Developmental and Epileptic Encephalopathy 90 ISO RGD:733500 D RGD:7240710 20210303 OMIM 11918169 FGF13 fibroblast growth factor 13 gene DOID:9000663 Developmental and Epileptic Encephalopathy 90 ISO RGD:733500 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 90 PMID:25741868|PMID:33245860|PMID:34871784 11918169 FGF13 fibroblast growth factor 13 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19917848 11918169 FGF13 fibroblast growth factor 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11918169 FGF13 fibroblast growth factor 13 gene DOID:9005113 X-Linked Intellectual Developmental Disorder 110 ISO RGD:733500 D RGD:7240710 20230125 OMIM 11918169 FGF13 fibroblast growth factor 13 gene DOID:9005113 X-Linked Intellectual Developmental Disorder 110 ISO RGD:733500 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 110 PMID:34184986 11918187 PNMA3 PNMA family member 3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1349093 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11918187 PNMA3 PNMA family member 3 gene DOID:0050476 Barth syndrome ISO RGD:1349093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11918187 PNMA3 PNMA family member 3 gene DOID:0050800 creatine transporter deficiency ISO RGD:1349093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11918187 PNMA3 PNMA family member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11918187 PNMA3 PNMA family member 3 gene DOID:10588 adrenoleukodystrophy ISO RGD:1349093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11918187 PNMA3 PNMA family member 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11918187 PNMA3 PNMA family member 3 gene DOID:12849 autistic disorder ISO RGD:1349093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11918187 PNMA3 PNMA family member 3 gene DOID:13628 favism ISO RGD:1349093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11918187 PNMA3 PNMA family member 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1349093 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11918187 PNMA3 PNMA family member 3 gene DOID:607 paraplegia ISO RGD:1349093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11918187 PNMA3 PNMA family member 3 gene DOID:630 genetic disease ISO RGD:1349093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918192 SEC61G SEC61 translocon subunit gamma gene DOID:12849 autistic disorder ISO RGD:1314869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11918192 SEC61G SEC61 translocon subunit gamma gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11918192 SEC61G SEC61 translocon subunit gamma gene DOID:630 genetic disease ISO RGD:1314869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918203 OGDHL oxoglutarate dehydrogenase L gene DOID:11372 megacolon ISO RGD:1322096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11918203 OGDHL oxoglutarate dehydrogenase L gene DOID:1596 depressive disorder ISO RGD:1322096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Depression PMID:28017472 11918203 OGDHL oxoglutarate dehydrogenase L gene DOID:5419 schizophrenia ISO RGD:1322096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11918203 OGDHL oxoglutarate dehydrogenase L gene DOID:6000 congestive heart failure ISO RGD:1322096 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 11918203 OGDHL oxoglutarate dehydrogenase L gene DOID:630 genetic disease ISO RGD:1322096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28097321 11918203 OGDHL oxoglutarate dehydrogenase L gene DOID:9004385 YOON-BELLEN NEURODEVELOPMENTAL SYNDROME ISO RGD:1322096 D RGD:7240710 20220406 OMIM 11918203 OGDHL oxoglutarate dehydrogenase L gene DOID:9004385 YOON-BELLEN NEURODEVELOPMENTAL SYNDROME ISO RGD:1322096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Yoon-Bellen neurodevelopmental syndrome PMID:26539891|PMID:28017472|PMID:34800363 11918204 UBE4A ubiquitination factor E4A gene DOID:0060017 CD3epsilon deficiency ISO RGD:1351066 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11918204 UBE4A ubiquitination factor E4A gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1351066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11918204 UBE4A ubiquitination factor E4A gene DOID:0080690 RASopathy ISO RGD:1351066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11918204 UBE4A ubiquitination factor E4A gene DOID:0081330 glycogen storage disease Ib ISO RGD:1351066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 11918204 UBE4A ubiquitination factor E4A gene DOID:0110651 long QT syndrome 10 ISO RGD:1351066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11918204 UBE4A ubiquitination factor E4A gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1351066 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11918204 UBE4A ubiquitination factor E4A gene DOID:0111971 immunodeficiency 18 ISO RGD:1351066 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11918204 UBE4A ubiquitination factor E4A gene DOID:0111972 immunodeficiency 19 ISO RGD:1351066 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11918204 UBE4A ubiquitination factor E4A gene DOID:0111973 immunodeficiency 17 ISO RGD:1351066 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11918204 UBE4A ubiquitination factor E4A gene DOID:1059 intellectual disability ISO RGD:1351066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11918204 UBE4A ubiquitination factor E4A gene DOID:1826 epilepsy ISO RGD:1351066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:33420346 11918204 UBE4A ubiquitination factor E4A gene DOID:630 genetic disease ISO RGD:1351066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918204 UBE4A ubiquitination factor E4A gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1351066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11918204 UBE4A ubiquitination factor E4A gene DOID:9004263 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY ISO RGD:1351066 D RGD:7240710 20220216 OMIM 11918204 UBE4A ubiquitination factor E4A gene DOID:9004263 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY ISO RGD:1351066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay PMID:27431290|PMID:33420346 11918204 UBE4A ubiquitination factor E4A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11918204 UBE4A ubiquitination factor E4A gene DOID:9007661 Dwarfism ISO RGD:1351066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11918236 CCDC97 coiled-coil domain containing 97 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11918236 CCDC97 coiled-coil domain containing 97 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1602452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11918236 CCDC97 coiled-coil domain containing 97 gene DOID:2340 craniosynostosis ISO RGD:1602452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11918236 CCDC97 coiled-coil domain containing 97 gene DOID:630 genetic disease ISO RGD:1602452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918236 CCDC97 coiled-coil domain containing 97 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1602452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11918236 CCDC97 coiled-coil domain containing 97 gene DOID:9269 maple syrup urine disease ISO RGD:1602452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11918250 CLN5 CLN5 intracellular trafficking protein gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1315879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11918250 CLN5 CLN5 intracellular trafficking protein gene DOID:0110728 neuronal ceroid lipofuscinosis 5 ISO RGD:1315879 D RGD:7240710 20180130 OMIM 11918250 CLN5 CLN5 intracellular trafficking protein gene DOID:0110728 neuronal ceroid lipofuscinosis 5 ISO RGD:1315879 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 5 PMID:10953198|PMID:11971870|PMID:12134079|PMID:15207259|PMID:15349861|PMID:15728307|PMID:16814585|PMID:17576681|PMID:18414213|PMID:18684116|PMID:19201763|PMID:19309691|PMID:19383612|PMID:20052765|PMID:20157158|PMID:20301601|PMID:20490930|PMID:20960652|PMID:21447811|PMID:21990111|PMID:22532218|PMID:22727047|PMID:23160995|PMID:23374165|PMID:24038957|PMID:24058541|PMID:24767253|PMID:25359263|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26342652|PMID:26467025|PMID:26990548|PMID:27069701|PMID:27149842|PMID:27533158|PMID:27553520|PMID:27884173|PMID:28492532|PMID:28542837|PMID:29482223|PMID:29655203|PMID:30037983|PMID:30078242|PMID:30264640|PMID:30655561|PMID:30919163|PMID:31105743|PMID:31130284|PMID:31319225|PMID:32005694|PMID:32983231|PMID:34906502|PMID:9536098|PMID:9662406 11918250 CLN5 CLN5 intracellular trafficking protein gene DOID:1059 intellectual disability ISO RGD:1315879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11918250 CLN5 CLN5 intracellular trafficking protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1315879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10953198|PMID:11727201|PMID:11971870|PMID:12134079|PMID:12673792|PMID:15728307|PMID:16199547|PMID:16814585|PMID:17576681|PMID:18414213|PMID:19201763|PMID:19309691|PMID:19383612|PMID:20052765|PMID:20157158|PMID:20301601|PMID:20960652|PMID:21990111|PMID:22532218|PMID:22727047|PMID:23374165|PMID:24038957|PMID:24058541|PMID:24767253|PMID:25525159|PMID:25677497|PMID:25741868|PMID:25976102|PMID:26342652|PMID:26467025|PMID:26990548|PMID:27069701|PMID:27149842|PMID:27533158|PMID:27553520|PMID:27884173|PMID:28492532|PMID:28542837|PMID:29482223|PMID:29655203|PMID:30037983|PMID:30078242|PMID:30264640|PMID:30919163|PMID:31105743|PMID:32005694|PMID:32393339|PMID:32983231|PMID:34906502|PMID:9536098|PMID:9662406 11918250 CLN5 CLN5 intracellular trafficking protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1315879 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10953198|PMID:11971870|PMID:12134079|PMID:15728307|PMID:16199547|PMID:16814585|PMID:17576681|PMID:18414213|PMID:19201763|PMID:19309691|PMID:19383612|PMID:20052765|PMID:20157158|PMID:20301601|PMID:20960652|PMID:21990111|PMID:22532218|PMID:22727047|PMID:23374165|PMID:24038957|PMID:24058541|PMID:24767253|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26342652|PMID:26467025|PMID:26990548|PMID:27069701|PMID:27149842|PMID:27533158|PMID:27553520|PMID:27884173|PMID:28492532|PMID:28542837|PMID:29482223|PMID:29655203|PMID:30037983|PMID:30078242|PMID:30264640|PMID:30919163|PMID:31105743|PMID:32005694|PMID:32393339|PMID:32983231|PMID:34906502|PMID:9536098|PMID:9662406 11918250 CLN5 CLN5 intracellular trafficking protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1315879 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10953198|PMID:11971870|PMID:12134079|PMID:15728307|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19201763|PMID:19383612|PMID:20052765|PMID:20157158|PMID:20301601|PMID:20960652|PMID:21990111|PMID:22532218|PMID:22727047|PMID:23374165|PMID:24058541|PMID:24767253|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25976102|PMID:26342652|PMID:26467025|PMID:26990548|PMID:27069701|PMID:27149842|PMID:27533158|PMID:27553520|PMID:27884173|PMID:28492532|PMID:28542837|PMID:29482223|PMID:29655203|PMID:30037983|PMID:30078242|PMID:30264640|PMID:30919163|PMID:31105743|PMID:32005694|PMID:32393339|PMID:32983231|PMID:34906502|PMID:9536098|PMID:9662406 11918250 CLN5 CLN5 intracellular trafficking protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1315879 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10528251|PMID:10953198|PMID:11971870|PMID:12134079|PMID:15349861|PMID:15728307|PMID:16199547|PMID:16814585|PMID:17576681|PMID:18414213|PMID:18684116|PMID:19201763|PMID:19309691|PMID:19383612|PMID:20052765|PMID:20127975|PMID:20157158|PMID:20301601|PMID:20490930|PMID:20960652|PMID:21447811|PMID:21990111|PMID:22532218|PMID:22589734|PMID:22727047|PMID:23160995|PMID:23374165|PMID:24038957|PMID:24058541|PMID:24767253|PMID:25359263|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25976102|PMID:26342652|PMID:26467025|PMID:26990548|PMID:27069701|PMID:27149842|PMID:27533158|PMID:27553520|PMID:27884173|PMID:28492532|PMID:28542837|PMID:29482223|PMID:29655203|PMID:30037983|PMID:30078242|PMID:30264640|PMID:30394532|PMID:30655561|PMID:30919163|PMID:31105743|PMID:31130284|PMID:31406620|PMID:32005694|PMID:32393339|PMID:32983231|PMID:34906502|PMID:8001159|PMID:9536098|PMID:9662406 11918250 CLN5 CLN5 intracellular trafficking protein gene DOID:1826 epilepsy ISO RGD:1315879 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:18414213|PMID:20157158|PMID:21990111|PMID:22727047|PMID:23374165|PMID:24767253|PMID:25741868|PMID:26467025|PMID:26990548|PMID:27069701|PMID:27533158|PMID:27884173|PMID:28492532|PMID:9662406 11918250 CLN5 CLN5 intracellular trafficking protein gene DOID:630 genetic disease ISO RGD:1315879 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11971870|PMID:12134079|PMID:15728307|PMID:17576681|PMID:18414213|PMID:20052765|PMID:20157158|PMID:20301601|PMID:20490930|PMID:21990111|PMID:22727047|PMID:23374165|PMID:24767253|PMID:25741868|PMID:26467025|PMID:26990548|PMID:27069701|PMID:27533158|PMID:27884173|PMID:28492532|PMID:30078242|PMID:30264640|PMID:9536098|PMID:9662406 11918250 CLN5 CLN5 intracellular trafficking protein gene DOID:891 progressive myoclonus epilepsy ISO RGD:1315879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:18414213|PMID:24767253|PMID:25741868|PMID:26467025|PMID:28492532 11918250 CLN5 CLN5 intracellular trafficking protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11918257 MYL1 myosin light chain 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:733783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11918257 MYL1 myosin light chain 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:733783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11918257 MYL1 myosin light chain 1 gene DOID:630 genetic disease ISO RGD:733783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918257 MYL1 myosin light chain 1 gene DOID:9001348 Congenital Myopathy 14 ISO RGD:733783 D RGD:7240710 20190529 OMIM 11918257 MYL1 myosin light chain 1 gene DOID:9001348 Congenital Myopathy 14 ISO RGD:733783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 14 | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY PMID:25741868|PMID:30215711 11918257 MYL1 myosin light chain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11918257 MYL1 myosin light chain 1 gene DOID:9007588 Heart Injuries ISO RGD:733783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19854236 11918286 RBM39 RNA binding motif protein 39 gene DOID:630 genetic disease ISO RGD:1320763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918311 MYH3 myosin heavy chain 3 gene DOID:0050646 distal arthrogryposis ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis PMID:25741868|PMID:28492532 11918311 MYH3 myosin heavy chain 3 gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:731491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 11918311 MYH3 myosin heavy chain 3 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:731491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868|PMID:28492532 11918311 MYH3 myosin heavy chain 3 gene DOID:0081321 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A ISO RGD:731491 D RGD:7240710 20180130 OMIM 11918311 MYH3 myosin heavy chain 3 gene DOID:0081321 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1A PMID:17576681|PMID:18414213|PMID:18470895|PMID:25741868|PMID:25957469|PMID:27381093|PMID:28492532|PMID:29314551|PMID:29805041|PMID:32902138|PMID:33726816|PMID:34204301|PMID:34440395|PMID:35169139|PMID:9536098 11918311 MYH3 myosin heavy chain 3 gene DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B ISO RGD:731491 D RGD:7240710 20190911 OMIM 11918311 MYH3 myosin heavy chain 3 gene DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B | ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1B PMID:17576681|PMID:18414213|PMID:25741868|PMID:25741870|PMID:28492532|PMID:29805041|PMID:32902138|PMID:33726816|PMID:34204301|PMID:34440395|PMID:35169139|PMID:9536098 11918311 MYH3 myosin heavy chain 3 gene DOID:0090116 spondylocarpotarsal synostosis syndrome ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Scoliosis, congenital with unilateral unsegmented bar | ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome PMID:17576681|PMID:25741868|PMID:28492532|PMID:29805041|PMID:32902138|PMID:33726816|PMID:34204301|PMID:34440395|PMID:35169139|PMID:9536098 11918311 MYH3 myosin heavy chain 3 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:731491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:25741868 11918311 MYH3 myosin heavy chain 3 gene DOID:0111599 distal arthrogryposis type 2B ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities PMID:17576681|PMID:25741868|PMID:28492532|PMID:29805041|PMID:32902138|PMID:33726816|PMID:34204301|PMID:34440395|PMID:35169139|PMID:9536098 11918311 MYH3 myosin heavy chain 3 gene DOID:0111600 distal arthrogryposis type 2B1 ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 PMID:16642020|PMID:17576681|PMID:18414213|PMID:19142688|PMID:25741868|PMID:28492532|PMID:28779239|PMID:29805041|PMID:32902138|PMID:33726816|PMID:34204301|PMID:34440395|PMID:35169139|PMID:9536098 11918311 MYH3 myosin heavy chain 3 gene DOID:0111602 distal arthrogryposis type 2B3 ISO RGD:731491 D RGD:7240710 20190626 OMIM 11918311 MYH3 myosin heavy chain 3 gene DOID:0111602 distal arthrogryposis type 2B3 ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B3 | ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B3 (Sheldon-Hall) PMID:16642020|PMID:18414213|PMID:18695058|PMID:25256237|PMID:25741868|PMID:26578207|PMID:28492532|PMID:29625835|PMID:29805041|PMID:30826400|PMID:31030430 11918311 MYH3 myosin heavy chain 3 gene DOID:0111604 Freeman-Sheldon syndrome ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniocarpotarsal dysplasia | ClinVar Annotator: match by term: Freeman-Sheldon syndrome PMID:16642020|PMID:17576681|PMID:18414213|PMID:18695058|PMID:19142688|PMID:20924721|PMID:23265383|PMID:25256237|PMID:25740846|PMID:25741868|PMID:26945064|PMID:26996280|PMID:28492532|PMID:28584669|PMID:29805041|PMID:30379605|PMID:30826400|PMID:31030430|PMID:32732226|PMID:32902138|PMID:33726816|PMID:34204301|PMID:34440395|PMID:35169139|PMID:9536098 11918311 MYH3 myosin heavy chain 3 gene DOID:0111605 distal arthrogryposis type 2A ISO RGD:731491 D RGD:7240710 20200205 OMIM 11918311 MYH3 myosin heavy chain 3 gene DOID:0111605 distal arthrogryposis type 2A ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 2A (Freeman-Sheldon) PMID:16642020|PMID:17576681|PMID:18695058|PMID:25256237|PMID:25741868|PMID:28492532|PMID:29805041|PMID:30826400|PMID:32902138|PMID:33726816|PMID:34204301|PMID:34440395|PMID:35169139|PMID:9536098 11918311 MYH3 myosin heavy chain 3 gene DOID:10283 prostate cancer ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:25741868|PMID:28492532|PMID:31030430 11918311 MYH3 myosin heavy chain 3 gene DOID:1826 epilepsy ISO RGD:731491 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11918311 MYH3 myosin heavy chain 3 gene DOID:630 genetic disease ISO RGD:731491 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16642020|PMID:18695058|PMID:23401156|PMID:25741868|PMID:25957469|PMID:27381093|PMID:28205584|PMID:28492532|PMID:291935|PMID:29805041|PMID:30008475 11918311 MYH3 myosin heavy chain 3 gene DOID:9000884 Rhabdomyolysis ISO RGD:731491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:16642020|PMID:25741868|PMID:28492532|PMID:28779239 11918354 LOC100990544 keratin-associated protein 12-2 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1352453 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 11918354 LOC100990544 keratin-associated protein 12-2 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1352453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11918354 LOC100990544 keratin-associated protein 12-2 gene DOID:0110266 cataract 9 multiple types ISO RGD:1352453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11918354 LOC100990544 keratin-associated protein 12-2 gene DOID:12849 autistic disorder ISO RGD:1352453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11918354 LOC100990544 keratin-associated protein 12-2 gene DOID:630 genetic disease ISO RGD:1352453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918354 LOC100990544 keratin-associated protein 12-2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1352453 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11918354 LOC100990544 keratin-associated protein 12-2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11918354 LOC100990544 keratin-associated protein 12-2 gene DOID:9263 homocystinuria ISO RGD:1352453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11918354 LOC100990544 keratin-associated protein 12-2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11918362 GIPR gastric inhibitory polypeptide receptor gene DOID:10603 glucose intolerance ISO RGD:1557958 D RGD:9068941 20200609 RGD PMID:10611300|REF_RGD_ID:737713 11918362 GIPR gastric inhibitory polypeptide receptor gene DOID:1287 cardiovascular system disease ISO RGD:732777 D RGD:9068941 20200609 RGD DNA:missense mutation:p.E354Q (human) PMID:17624916|REF_RGD_ID:2312618 11918362 GIPR gastric inhibitory polypeptide receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:732777 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 11918362 GIPR gastric inhibitory polypeptide receptor gene DOID:4195 hyperglycemia ISO RGD:1557958 D RGD:9068941 20200609 RGD PMID:10611300|REF_RGD_ID:737713 11918362 GIPR gastric inhibitory polypeptide receptor gene DOID:4195 hyperglycemia ISO RGD:2689 D RGD:9068941 20200609 RGD protein:decreased expression:pancreatic islet (rat) PMID:17505054|REF_RGD_ID:2312603 11918362 GIPR gastric inhibitory polypeptide receptor gene DOID:630 genetic disease ISO RGD:732777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918362 GIPR gastric inhibitory polypeptide receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:732777 D RGD:9068941 20200609 RGD PMID:19211686|REF_RGD_ID:2306734 11918362 GIPR gastric inhibitory polypeptide receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2689 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (rat) PMID:12789546|REF_RGD_ID:2312548 11918362 GIPR gastric inhibitory polypeptide receptor gene DOID:9007633 Body Weight ISO RGD:732777 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344221 11918362 GIPR gastric inhibitory polypeptide receptor gene DOID:9351 diabetes mellitus ISO RGD:732777 D RGD:9068941 20200609 RGD human gene, mouse model PMID:15582721|REF_RGD_ID:2312617 11918362 GIPR gastric inhibitory polypeptide receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:2689 D RGD:9068941 20200609 RGD PMID:11334402|REF_RGD_ID:68929 11918362 GIPR gastric inhibitory polypeptide receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:732777 D RGD:9068941 20200609 RGD protein:decreased expression:pancreatic islet (human) PMID:19386626|REF_RGD_ID:2312454 11918362 GIPR gastric inhibitory polypeptide receptor gene DOID:9970 obesity ISO RGD:1557958 D RGD:9068941 20200609 RGD mRNA:splice variant:pancreatic islet (mouse) PMID:17971513|REF_RGD_ID:2312612 11918362 GIPR gastric inhibitory polypeptide receptor gene DOID:9970 obesity ISO RGD:732777 D RGD:9068941 20200609 RGD DNA:polymorphism:intron 1 C>A (rs2302382) (human) PMID:19254363|REF_RGD_ID:2312615 11918362 GIPR gastric inhibitory polypeptide receptor gene DOID:9970 obesity ISO RGD:732777 D RGD:9068941 20200609 RGD mRNA:reduced expression:fat tissue (human) PMID:17395281|REF_RGD_ID:2312616 11918362 GIPR gastric inhibitory polypeptide receptor gene DOID:9970 obesity susceptibility ISO RGD:1557958 D RGD:9068941 20200609 RGD PMID:12068290|REF_RGD_ID:737714 11918377 SPNS3 SPNS lysolipid transporter 3, sphingosine-1-phosphate (putative) gene DOID:630 genetic disease ISO RGD:1601816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918392 UBE2J2 ubiquitin conjugating enzyme E2 J2 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1343973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11918392 UBE2J2 ubiquitin conjugating enzyme E2 J2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1343973 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11918392 UBE2J2 ubiquitin conjugating enzyme E2 J2 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1343973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11918392 UBE2J2 ubiquitin conjugating enzyme E2 J2 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1343973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11918392 UBE2J2 ubiquitin conjugating enzyme E2 J2 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1343973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11918392 UBE2J2 ubiquitin conjugating enzyme E2 J2 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1343973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11918392 UBE2J2 ubiquitin conjugating enzyme E2 J2 gene DOID:0111934 immunodeficiency 38 ISO RGD:1343973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11918392 UBE2J2 ubiquitin conjugating enzyme E2 J2 gene DOID:0111935 immunodeficiency 16 ISO RGD:1343973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11918392 UBE2J2 ubiquitin conjugating enzyme E2 J2 gene DOID:630 genetic disease ISO RGD:1343973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918392 UBE2J2 ubiquitin conjugating enzyme E2 J2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11918392 UBE2J2 ubiquitin conjugating enzyme E2 J2 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1343973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11918392 UBE2J2 ubiquitin conjugating enzyme E2 J2 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1343973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11918432 PRCC proline rich mitotic checkpoint control factor gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1319153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11918432 PRCC proline rich mitotic checkpoint control factor gene DOID:0111940 immunodeficiency 42 ISO RGD:1319153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11918432 PRCC proline rich mitotic checkpoint control factor gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1319153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11918432 PRCC proline rich mitotic checkpoint control factor gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1319153 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11918432 PRCC proline rich mitotic checkpoint control factor gene DOID:1540 parathyroid carcinoma ISO RGD:1319153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11918432 PRCC proline rich mitotic checkpoint control factor gene DOID:4450 renal cell carcinoma ISO RGD:1319153 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:25741868 11918432 PRCC proline rich mitotic checkpoint control factor gene DOID:4465 papillary renal cell carcinoma ISO RGD:1319153 D RGD:7240710 20180919 OMIM 11918432 PRCC proline rich mitotic checkpoint control factor gene DOID:5812 MHC class II deficiency ISO RGD:1319153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11918432 PRCC proline rich mitotic checkpoint control factor gene DOID:630 genetic disease ISO RGD:1319153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918432 PRCC proline rich mitotic checkpoint control factor gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1319153 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:25741868 11918432 PRCC proline rich mitotic checkpoint control factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11918447 SFRP4 secreted frizzled related protein 4 gene DOID:0080019 metaphyseal dysplasia ISO RGD:1350997 D RGD:7240710 20190315 OMIM 11918447 SFRP4 secreted frizzled related protein 4 gene DOID:0080019 metaphyseal dysplasia ISO RGD:1350997 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pyle metaphyseal dysplasia PMID:25741868|PMID:27355534|PMID:28492532|PMID:33193738 11918447 SFRP4 secreted frizzled related protein 4 gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:1350997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 PMID:28492532 11918447 SFRP4 secreted frizzled related protein 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11918447 SFRP4 secreted frizzled related protein 4 gene DOID:5119 ovarian cyst ISO RGD:1350997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 11918447 SFRP4 secreted frizzled related protein 4 gene DOID:630 genetic disease ISO RGD:1350997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11918447 SFRP4 secreted frizzled related protein 4 gene DOID:9002457 Experimental Arthritis ISO RGD:1350997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25194984 11918447 SFRP4 secreted frizzled related protein 4 gene DOID:9007102 Myocardial Ischemia ISO RGD:621075 D RGD:9068941 20200609 RGD PMID:20528676|REF_RGD_ID:4107721 11918447 SFRP4 secreted frizzled related protein 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17923031 11918447 SFRP4 secreted frizzled related protein 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23140642 11918457 ZBTB3 zinc finger and BTB domain containing 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1353634 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11918457 ZBTB3 zinc finger and BTB domain containing 3 gene DOID:1059 intellectual disability ISO RGD:1353634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11918457 ZBTB3 zinc finger and BTB domain containing 3 gene DOID:630 genetic disease ISO RGD:1353634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918472 TNNC2 troponin C2, fast skeletal type gene DOID:2234 focal epilepsy ISO RGD:1323707 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11918472 TNNC2 troponin C2, fast skeletal type gene DOID:630 genetic disease ISO RGD:1323707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918472 TNNC2 troponin C2, fast skeletal type gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1323707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11918472 TNNC2 troponin C2, fast skeletal type gene DOID:9006710 Congenital Myopathy 15 ISO RGD:1323707 D RGD:7240710 20230301 OMIM 11918472 TNNC2 troponin C2, fast skeletal type gene DOID:9006710 Congenital Myopathy 15 ISO RGD:1323707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, with neonatal respiratory insufficiency PMID:33755597 11918486 ARFIP2 ADP ribosylation factor interacting protein 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1349532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11918486 ARFIP2 ADP ribosylation factor interacting protein 2 gene DOID:630 genetic disease ISO RGD:1349532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918508 PDZK1 PDZ domain containing 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:732823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11918508 PDZK1 PDZ domain containing 1 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:732823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 11918508 PDZK1 PDZ domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:732823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11918508 PDZK1 PDZ domain containing 1 gene DOID:5419 schizophrenia ISO RGD:732823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11918508 PDZK1 PDZ domain containing 1 gene DOID:630 genetic disease ISO RGD:732823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918508 PDZK1 PDZ domain containing 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11918508 PDZK1 PDZ domain containing 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:732823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11918508 PDZK1 PDZ domain containing 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25751625 11918508 PDZK1 PDZ domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11918535 SUCLG2 succinate-CoA ligase GDP-forming subunit beta gene DOID:0080128 mitochondrial DNA depletion syndrome 9 ISO RGD:1312779 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 11918535 SUCLG2 succinate-CoA ligase GDP-forming subunit beta gene DOID:14749 methylmalonic acidemia ISO RGD:1312779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 11918535 SUCLG2 succinate-CoA ligase GDP-forming subunit beta gene DOID:289 endometriosis ISO RGD:1312779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23284138 11918535 SUCLG2 succinate-CoA ligase GDP-forming subunit beta gene DOID:3910 lung adenocarcinoma ISO RGD:1312779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11918535 SUCLG2 succinate-CoA ligase GDP-forming subunit beta gene DOID:630 genetic disease ISO RGD:1312779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11918535 SUCLG2 succinate-CoA ligase GDP-forming subunit beta gene DOID:9006205 Animal Disease Models ISO RGD:1312779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11918535 SUCLG2 succinate-CoA ligase GDP-forming subunit beta gene DOID:9970 obesity ISO RGD:1312779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 11918550 MRPL49 mitochondrial ribosomal protein L49 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1320522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11918550 MRPL49 mitochondrial ribosomal protein L49 gene DOID:1059 intellectual disability ISO RGD:1320522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11918550 MRPL49 mitochondrial ribosomal protein L49 gene DOID:1909 melanoma ISO RGD:1320522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11918550 MRPL49 mitochondrial ribosomal protein L49 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1320522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11918550 MRPL49 mitochondrial ribosomal protein L49 gene DOID:2746 glycogen storage disease V ISO RGD:1320522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11918550 MRPL49 mitochondrial ribosomal protein L49 gene DOID:3070 high grade glioma ISO RGD:1320522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11918550 MRPL49 mitochondrial ribosomal protein L49 gene DOID:630 genetic disease ISO RGD:1320522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918558 LYPD6 LY6/PLAUR domain containing 6 gene DOID:630 genetic disease ISO RGD:1605579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918570 OMP olfactory marker protein gene DOID:1059 intellectual disability ISO RGD:734264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11918570 OMP olfactory marker protein gene DOID:630 genetic disease ISO RGD:734264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918573 LACTB2 lactamase beta 2 gene DOID:630 genetic disease ISO RGD:1317324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918585 DDAH1 dimethylarginine dimethylaminohydrolase 1 gene DOID:10763 hypertension susceptibility ISO RGD:1343347 D RGD:9068941 20200609 RGD PMID:16444868|REF_RGD_ID:1625582 11918585 DDAH1 dimethylarginine dimethylaminohydrolase 1 gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:1343347 D RGD:9068941 20200609 RGD PMID:16444868|REF_RGD_ID:1625582 11918585 DDAH1 dimethylarginine dimethylaminohydrolase 1 gene DOID:409 liver disease ISO RGD:1343347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11918585 DDAH1 dimethylarginine dimethylaminohydrolase 1 gene DOID:630 genetic disease ISO RGD:1343347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918585 DDAH1 dimethylarginine dimethylaminohydrolase 1 gene DOID:9001820 Pulmonary Arterial Hypertension exacerbates ISO XCO:0000642 D RGD:9068941 20220204 RGD compared to wild type PMID:31402164|REF_RGD_ID:151347602 11918605 SLC16A12 solute carrier family 16 member 12 gene DOID:0070353 cataract 47 ISO RGD:1606094 D RGD:7240710 20180130 OMIM 11918605 SLC16A12 solute carrier family 16 member 12 gene DOID:0070353 cataract 47 ISO RGD:1606094 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CATARACT, JUVENILE, WITH MICROCORNEA | ClinVar Annotator: match by term: Cataract, juvenile, with microcornea and glucosuria PMID:17458810|PMID:18304496|PMID:21778275|PMID:24281366|PMID:25741868|PMID:26376857|PMID:26694549|PMID:28492532 11918605 SLC16A12 solute carrier family 16 member 12 gene DOID:12270 coloboma ISO RGD:1606094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Coloboma of eye PMID:24281366|PMID:25741868|PMID:28492532 11918605 SLC16A12 solute carrier family 16 member 12 gene DOID:14497 Wolman disease ISO RGD:1606094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wolman disease PMID:28492532 11918605 SLC16A12 solute carrier family 16 member 12 gene DOID:630 genetic disease ISO RGD:1606094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918605 SLC16A12 solute carrier family 16 member 12 gene DOID:83 cataract ISO RGD:1606094 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:26694549 11918615 TENT2 terminal nucleotidyltransferase 2 gene DOID:630 genetic disease ISO RGD:1315054 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918615 TENT2 terminal nucleotidyltransferase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11918654 GGT7 gamma-glutamyltransferase 7 gene DOID:2843 long QT syndrome ISO RGD:731694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11918654 GGT7 gamma-glutamyltransferase 7 gene DOID:630 genetic disease ISO RGD:731694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918672 FAXDC2 fatty acid hydroxylase domain containing 2 gene DOID:630 genetic disease ISO RGD:1319694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918672 FAXDC2 fatty acid hydroxylase domain containing 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1319694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11918692 PITRM1 pitrilysin metallopeptidase 1 gene DOID:0060673 Peters anomaly ISO RGD:1322218 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:26893459|PMID:28492532 11918692 PITRM1 pitrilysin metallopeptidase 1 gene DOID:0080126 mitochondrial DNA depletion syndrome 7 ISO RGD:1322218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia PMID:29764912 11918692 PITRM1 pitrilysin metallopeptidase 1 gene DOID:5419 schizophrenia ISO RGD:1322218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11918692 PITRM1 pitrilysin metallopeptidase 1 gene DOID:630 genetic disease ISO RGD:1322218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11918692 PITRM1 pitrilysin metallopeptidase 1 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1322218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29216386 11918692 PITRM1 pitrilysin metallopeptidase 1 gene DOID:9006343 Autosomal Recessive Spinocerebellar Ataxia 30 ISO RGD:1322218 D RGD:7240710 20210728 OMIM 11918692 PITRM1 pitrilysin metallopeptidase 1 gene DOID:9006343 Autosomal Recessive Spinocerebellar Ataxia 30 ISO RGD:1322218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 30 PMID:26697887|PMID:29383861|PMID:29764912 11918723 NGRN neugrin, neurite outgrowth associated gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1605389 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 11918723 NGRN neugrin, neurite outgrowth associated gene DOID:2717 Bloom syndrome ISO RGD:1605389 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11918723 NGRN neugrin, neurite outgrowth associated gene DOID:630 genetic disease ISO RGD:1605389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918723 NGRN neugrin, neurite outgrowth associated gene DOID:9256 colorectal cancer ISO RGD:1605389 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11918731 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:0050451 Brugada syndrome ISO RGD:731942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:17576681|PMID:20817017|PMID:21383000|PMID:22840528|PMID:23414114|PMID:25527503|PMID:25741868|PMID:26220970|PMID:26467025|PMID:26498160|PMID:28166811|PMID:28492532|PMID:9536098 11918731 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:0050451 Brugada syndrome ISO RGD:731942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:17576681|PMID:20817017|PMID:21383000|PMID:22840528|PMID:23414114|PMID:25527503|PMID:25640679|PMID:25741868|PMID:26220970|PMID:26467025|PMID:26498160|PMID:27711072|PMID:28166811|PMID:28492532|PMID:29247119|PMID:30821013|PMID:30847666|PMID:9536098 11918731 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:0050793 short QT syndrome ISO RGD:731942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short QT syndrome PMID:25741868|PMID:26467025|PMID:28492532 11918731 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:0050834 CHARGE syndrome ISO RGD:731942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532 11918731 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:0060319 cardiac arrest ISO RGD:731942 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:20817017|PMID:21383000|PMID:22840528|PMID:25527503|PMID:25741868|PMID:28492532 11918731 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:10763 hypertension ISO RGD:731942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22949532 11918731 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:1826 epilepsy ISO RGD:731942 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 11918731 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:2843 long QT syndrome ISO RGD:731942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11918731 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:3459 breast carcinoma ISO RGD:731942 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Carcinoma of breast PMID:20817017|PMID:25527503|PMID:25741868|PMID:28492532 11918731 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11918731 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:5419 schizophrenia ISO RGD:731942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11918731 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:630 genetic disease ISO RGD:731942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11918731 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9000184 Ventricular Fibrillation ISO RGD:731942 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:20817017|PMID:25527503|PMID:25741868|PMID:28492532 11918731 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9000641 Pain ISO RGD:731942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17088553 11918731 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9002211 Hyperalgesia ISO RGD:731942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11245671|PMID:17881535|PMID:24133248 11918731 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:731942 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:17576681|PMID:20817017|PMID:21383000|PMID:22840528|PMID:23414114|PMID:25527503|PMID:25741868|PMID:26220970|PMID:26467025|PMID:26498160|PMID:27711072|PMID:28166811|PMID:28492532|PMID:29247119|PMID:30821013|PMID:30847666|PMID:9536098 11918731 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:731942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 11918731 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11918731 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9005910 Developmental and Epileptic Encephalopathy 110 ISO RGD:731942 D RGD:7240710 20221214 OMIM 11918731 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9005910 Developmental and Epileptic Encephalopathy 110 ISO RGD:731942 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 110 PMID:35293990 11918731 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9005968 Neuralgia ISO RGD:731942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17442347|PMID:18400411|PMID:19339603|PMID:24133248 11918731 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9007614 Paroxysmal Atrial Fibrillation ISO RGD:731942 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Paroxysmal atrial fibrillation PMID:20817017|PMID:25527503|PMID:25741868|PMID:28492532 11918778 CHP1 calcineurin like EF-hand protein 1 gene DOID:2717 Bloom syndrome ISO RGD:736499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11918778 CHP1 calcineurin like EF-hand protein 1 gene DOID:9000187 Spastic Ataxia 9, Autosomal Recessive ISO RGD:736499 D RGD:7240710 20190626 OMIM 11918778 CHP1 calcineurin like EF-hand protein 1 gene DOID:9256 colorectal cancer ISO RGD:736499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11918789 BAG1 BAG cochaperone 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1313091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11918789 BAG1 BAG cochaperone 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1313091 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11918789 BAG1 BAG cochaperone 1 gene DOID:0080600 COVID-19 ISO RGD:1313091 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11918789 BAG1 BAG cochaperone 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1313091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11918789 BAG1 BAG cochaperone 1 gene DOID:10283 prostate cancer ISO RGD:1313091 D RGD:9068941 20200609 RGD DNA, protein:amplification, increased expression:prostate gland PMID:17503439|REF_RGD_ID:2293885 11918789 BAG1 BAG cochaperone 1 gene DOID:12528 lesion of sciatic nerve ISO RGD:1305203 D RGD:9068941 20200609 RGD PMID:23108487|REF_RGD_ID:13506903 11918789 BAG1 BAG cochaperone 1 gene DOID:12858 Huntington's disease treatment ISO RGD:1313092 D RGD:9068941 20200609 RGD PMID:18400759|REF_RGD_ID:13506921 11918789 BAG1 BAG cochaperone 1 gene DOID:1380 endometrial cancer ISO RGD:1313091 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:15297164|REF_RGD_ID:2293886 11918789 BAG1 BAG cochaperone 1 gene DOID:1612 breast cancer disease_progression ISO RGD:1313091 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:11181661|REF_RGD_ID:2293888 11918789 BAG1 BAG cochaperone 1 gene DOID:2893 cervix carcinoma ISO RGD:1313091 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:10047462|REF_RGD_ID:2293889 11918789 BAG1 BAG cochaperone 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:1313091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19066611 11918789 BAG1 BAG cochaperone 1 gene DOID:630 genetic disease ISO RGD:1313091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918789 BAG1 BAG cochaperone 1 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1313091 D RGD:9068941 20200609 RGD associated with Breast Neoplasms:protein:increased expression:breast PMID:18430249|REF_RGD_ID:2292908 11918789 BAG1 BAG cochaperone 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1305203 D RGD:9068941 20200609 RGD PMID:12215270|REF_RGD_ID:2296021 11918789 BAG1 BAG cochaperone 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1313091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19066611 11918789 BAG1 BAG cochaperone 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11918789 BAG1 BAG cochaperone 1 gene DOID:9870 galactosemia ISO RGD:1313091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11918818 LLPH LLP homolog, long-term synaptic facilitation factor gene DOID:630 genetic disease ISO RGD:1604260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918826 GLP2R glucagon like peptide 2 receptor gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:731561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 11918826 GLP2R glucagon like peptide 2 receptor gene DOID:630 genetic disease ISO RGD:731561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918844 NOP58 NOP58 ribonucleoprotein gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:733462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11918844 NOP58 NOP58 ribonucleoprotein gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:733462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11918844 NOP58 NOP58 ribonucleoprotein gene DOID:14557 primary pulmonary hypertension ISO RGD:733462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:16429395|PMID:16429403|PMID:27453251|PMID:28492532|PMID:29743074 11918844 NOP58 NOP58 ribonucleoprotein gene DOID:3910 lung adenocarcinoma ISO RGD:733462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11918844 NOP58 NOP58 ribonucleoprotein gene DOID:630 genetic disease ISO RGD:733462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918844 NOP58 NOP58 ribonucleoprotein gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:733462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 11918844 NOP58 NOP58 ribonucleoprotein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11918844 NOP58 NOP58 ribonucleoprotein gene DOID:9006205 Animal Disease Models ISO RGD:733462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11918844 NOP58 NOP58 ribonucleoprotein gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:733462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11918844 NOP58 NOP58 ribonucleoprotein gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:733462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:23579436|PMID:26387786 11918867 ASB2 ankyrin repeat and SOCS box containing 2 gene DOID:0080054 achondrogenesis type IA ISO RGD:1315012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11918867 ASB2 ankyrin repeat and SOCS box containing 2 gene DOID:0081063 DICER1 syndrome ISO RGD:1315012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 11918867 ASB2 ankyrin repeat and SOCS box containing 2 gene DOID:630 genetic disease ISO RGD:1315012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918881 CD1A CD1a molecule gene DOID:0080600 COVID-19 ISO RGD:1351549 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11918881 CD1A CD1a molecule gene DOID:1540 parathyroid carcinoma ISO RGD:1351549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11918881 CD1A CD1a molecule gene DOID:630 genetic disease ISO RGD:1351549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918881 CD1A CD1a molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11918891 COPB2 COPI coat complex subunit beta 2 gene DOID:0070281 primary autosomal recessive microcephaly 19 ISO RGD:732794 D RGD:7240710 20190315 OMIM 11918891 COPB2 COPI coat complex subunit beta 2 gene DOID:0070281 primary autosomal recessive microcephaly 19 ISO RGD:732794 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: COPB2-related condition | ClinVar Annotator: match by term: Microcephaly 19, primary, autosomal recessive PMID:25741868|PMID:28492532|PMID:29036432|PMID:34450031 11918891 COPB2 COPI coat complex subunit beta 2 gene DOID:0080600 COVID-19 ISO RGD:732794 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11918891 COPB2 COPI coat complex subunit beta 2 gene DOID:10907 microcephaly ISO RGD:1550457 D RGD:9068941 20220825 MouseDO OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 11918891 COPB2 COPI coat complex subunit beta 2 gene DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome ISO RGD:732794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome 11918891 COPB2 COPI coat complex subunit beta 2 gene DOID:630 genetic disease ISO RGD:732794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11918891 COPB2 COPI coat complex subunit beta 2 gene DOID:9001870 Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay ISO RGD:732794 D RGD:7240710 20220608 OMIM 11918891 COPB2 COPI coat complex subunit beta 2 gene DOID:9001870 Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay ISO RGD:732794 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Osteoporosis, childhood- or juvenile-onset, with developmental delay PMID:25741868|PMID:34450031 11918930 EXOC6 exocyst complex component 6 gene DOID:630 genetic disease ISO RGD:733206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918962 LOC100988594 histone H2B type F-M gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602818 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11918962 LOC100988594 histone H2B type F-M gene DOID:12849 autistic disorder ISO RGD:1602818 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11918962 LOC100988594 histone H2B type F-M gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1602818 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:1720927|PMID:9633722|PMID:9634530 11918962 LOC100988594 histone H2B type F-M gene DOID:630 genetic disease ISO RGD:1602818 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918966 DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1317589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:24218364|PMID:25118025|PMID:27270108 11918966 DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:0111251 Parkinson's disease 21 ISO RGD:1317589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease 21 PMID:24218364|PMID:25118025|PMID:27270108|PMID:28492532 11918966 DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:12712 nephronophthisis ISO RGD:1317589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 11918966 DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:14330 Parkinson's disease ISO RGD:1317589 D RGD:9068941 20200609 RGD PMID:25701813|REF_RGD_ID:10450845 11918966 DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:4990 essential tremor ISO RGD:1317589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:24218364|PMID:25118025|PMID:27270108 11918966 DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:630 genetic disease ISO RGD:1317589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11918966 DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:8725 vascular dementia ISO RGD:1317589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 11918966 DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1317589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 11918966 DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:9270 alkaptonuria ISO RGD:1317589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11919030 REM2 RRAD and GEM like GTPase 2 gene DOID:0060439 lysinuric protein intolerance ISO RGD:733550 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11919030 REM2 RRAD and GEM like GTPase 2 gene DOID:630 genetic disease ISO RGD:733550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11919030 REM2 RRAD and GEM like GTPase 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:733550 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11919030 REM2 RRAD and GEM like GTPase 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:733550 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11919054 MDH2 malate dehydrogenase 2 gene DOID:0080433 developmental and epileptic encephalopathy 51 ISO RGD:733026 D RGD:7240710 20190315 OMIM 11919054 MDH2 malate dehydrogenase 2 gene DOID:0080433 developmental and epileptic encephalopathy 51 ISO RGD:733026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 51 PMID:25741868|PMID:27989324|PMID:28492532 11919054 MDH2 malate dehydrogenase 2 gene DOID:2316 brain ischemia ISO RGD:619719 D RGD:9068941 20200609 RGD PMID:6282622|REF_RGD_ID:1582465 11919054 MDH2 malate dehydrogenase 2 gene DOID:305 carcinoma ISO RGD:733026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11919054 MDH2 malate dehydrogenase 2 gene DOID:4001 ovarian carcinoma ISO RGD:733026 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 11919054 MDH2 malate dehydrogenase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11919054 MDH2 malate dehydrogenase 2 gene DOID:5844 myocardial infarction ISO RGD:619719 D RGD:9068941 20200609 RGD PMID:9753871|REF_RGD_ID:1582468 11919054 MDH2 malate dehydrogenase 2 gene DOID:6000 congestive heart failure ISO RGD:619719 D RGD:9068941 20200609 RGD PMID:16786185|REF_RGD_ID:1582470 11919054 MDH2 malate dehydrogenase 2 gene DOID:630 genetic disease ISO RGD:733026 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11919054 MDH2 malate dehydrogenase 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11919054 MDH2 malate dehydrogenase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11919054 MDH2 malate dehydrogenase 2 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:733026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 11919054 MDH2 malate dehydrogenase 2 gene DOID:936 brain disease ISO RGD:733026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile encephalopathy PMID:25741868|PMID:27989324|PMID:28492532 11919072 STEAP1 STEAP family member 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11919072 STEAP1 STEAP family member 1 gene DOID:630 genetic disease ISO RGD:1323057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:0050860 colorectal adenoma ISO RGD:1316000 D RGD:9068941 20210924 RGD protein:decreased expression:colorectum (human) PMID:28423721|REF_RGD_ID:150429743 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1316000 D RGD:9068941 20210924 RGD mRNA:increased expression:tongue squamous epithelium (human) PMID:28319306|REF_RGD_ID:150429750 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:0050933 ovarian serous carcinoma ISO RGD:1316000 D RGD:9068941 20200609 RGD ovarian serous carcinoma; DNA:loss of heterozygosity:tumor:24/28 (86%) of high-grade tumors, also decreased expression in 96/128 (75%) of tumors PMID:16627982|REF_RGD_ID:2293332 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:11054 urinary bladder cancer ISO RGD:1316000 D RGD:9068941 20200609 RGD PMID:15665277|REF_RGD_ID:2306057 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:1324 lung cancer ameliorates ISO RGD:1316000 D RGD:9068941 20211001 RGD DNA:SNP:promoter: -1304T>G (rs3826392) (human) PMID:20554746|REF_RGD_ID:150429822 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:1793 pancreatic cancer ISO RGD:1316000 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:18772397|REF_RGD_ID:5490966 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:224 transient cerebral ischemia ISO RGD:1307040 D RGD:9068941 20200609 RGD protein:increased threonine phosphorylation:heart, nucleus PMID:9195981|REF_RGD_ID:7495830 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:2615 papilloma ISO RGD:1316001 D RGD:9068941 20200609 RGD PMID:20610622|REF_RGD_ID:7495823 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:2876 laryngeal squamous cell carcinoma severity ISO RGD:1316000 D RGD:9068941 20211001 RGD associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human) PMID:19513509|REF_RGD_ID:150429781 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1316000 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brain metastases:10-fold lower expression in metastases vs primary tumors PMID:15592684|REF_RGD_ID:2289400 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1316000 D RGD:9068941 20200609 RGD PMID:20699612|REF_RGD_ID:5490968 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:3717 gastric adenocarcinoma severity ISO RGD:1316000 D RGD:9068941 20211001 RGD protein:decreased expression: stomach (human) PMID:17116802|REF_RGD_ID:150429780 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:3717 gastric adenocarcinoma severity ISO RGD:1316000 D RGD:9068941 20211001 RGD protein:increased expression:stomach (human) PMID:10854223|REF_RGD_ID:150429764 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1316000 D RGD:9068941 20211001 RGD associated with Postoperative Complications;DNA:SNP:intron: (rs12452497)(human) PMID:26165383|REF_RGD_ID:11521299 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1316001 D RGD:9068941 20211001 RGD PMID:12231543|REF_RGD_ID:150429821 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1316001 D RGD:9068941 20211001 RGD PMID:21896780|REF_RGD_ID:150429783 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:630 genetic disease ISO RGD:1316000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1316000 D RGD:9068941 20211001 RGD protein:decreased expression:liver (human) PMID:32850377|REF_RGD_ID:150429765 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:769 neuroblastoma ISO RGD:1316000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26822237 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:8634 prostate carcinoma in situ disease_progression ISO RGD:1316000 D RGD:9068941 20200609 RGD protein:increased expression PMID:17577251|REF_RGD_ID:2293334 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1316001 D RGD:9068941 20200609 RGD PMID:21454599|REF_RGD_ID:7495828 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:9000774 Brain Death ISO RGD:1307040 D RGD:9068941 20200609 RGD PMID:23157661|REF_RGD_ID:7495829 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1316000 D RGD:9068941 20210924 RGD associated with oral squamous cell carcinoma;mRNA, protein:increased expression:lymph node (human) PMID:22165133|REF_RGD_ID:150429749 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:1307040 D RGD:9068941 20200609 RGD PMID:19668425|REF_RGD_ID:7495824 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316000 D RGD:9068941 20200609 RGD protein:increased expression:tumor:increased in high-grade prostatic intraepithelial neoplasias and tumor tissues (p<0.0001) PMID:17577251|REF_RGD_ID:2293334 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316001 D RGD:9068941 20200609 RGD protein:increased expression:tumor:increased in high-grade prostatic intraepithelial neoplasias and tumor tissues (p<0.0001) PMID:17577251|REF_RGD_ID:2293334 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1316000 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:significant inverse correlation between Gleason pattern and expression (p<0.01) PMID:11306453|REF_RGD_ID:2293333 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1316001 D RGD:9068941 20200609 RGD expression inhibits metastatic colonization of secondary sites by cancer cells in the AT6.1 model system PMID:16322247|REF_RGD_ID:2293337 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1316001 D RGD:9068941 20200609 RGD expression inhibits metastatic colonization of secondary sites by cancer cells in the SKOV3ip.1 cell line model system PMID:16489030|REF_RGD_ID:2293338 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:9004464 Skin Neoplasms treatment ISO RGD:1316001 D RGD:9068941 20200609 RGD PMID:21378167|REF_RGD_ID:7495826 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:9007980 Sleep Deprivation ISO RGD:1307040 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:mandible condylar process PMID:23859770|REF_RGD_ID:7495827 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:1316000 D RGD:9068941 20200609 RGD DNA:SNP, haplotype PMID:19404734|REF_RGD_ID:7495825 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:9256 colorectal cancer ameliorates ISO RGD:1316000 D RGD:9068941 20211001 RGD DNA:SNPs:promoter: -1304G>G, -1304T>G (rs3826392) (human) PMID:19610067|REF_RGD_ID:150429744 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:9256 colorectal cancer severity ISO RGD:1316000 D RGD:9068941 20210924 RGD protein:decreased expression:colorectum (human) PMID:28423721|REF_RGD_ID:150429743 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:9261 nasopharynx carcinoma ameliorates ISO RGD:1316000 D RGD:9068941 20211001 RGD DNA:SNP:promoter: -1304T>G, -1304G>G (human) PMID:27373035|REF_RGD_ID:150429759 11919080 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:9261 nasopharynx carcinoma ameliorates ISO RGD:1316000 D RGD:9068941 20211001 RGD associated with Epstein-Barr Virus Infections; DNA:SNPs:promoter: -1304G>G, -1304T>G (human) PMID:21702039|REF_RGD_ID:150429763 11919094 LOC100993377 ETS variant transcription factor 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1348851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11919094 LOC100993377 ETS variant transcription factor 3 gene DOID:630 genetic disease ISO RGD:1348851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11919094 LOC100993377 ETS variant transcription factor 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348851 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11919094 LOC100993377 ETS variant transcription factor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11919109 DSG4 desmoglein 4 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1348036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis PMID:28492532 11919109 DSG4 desmoglein 4 gene DOID:0110703 hypotrichosis 6 ISO RGD:1348036 D RGD:7240710 20180130 OMIM 11919109 DSG4 desmoglein 4 gene DOID:0110703 hypotrichosis 6 ISO RGD:1348036 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypotrichosis 6 PMID:12705872|PMID:16439973|PMID:16543896|PMID:16575393|PMID:17392831|PMID:25251037|PMID:25741868|PMID:28492532 11919109 DSG4 desmoglein 4 gene DOID:1059 intellectual disability ISO RGD:1348036 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11919109 DSG4 desmoglein 4 gene DOID:4535 hypotrichosis ISO RGD:1348036 D RGD:9068941 20200609 RGD DNA:deletion PMID:15191570|REF_RGD_ID:1599796 11919109 DSG4 desmoglein 4 gene DOID:4535 hypotrichosis ISO RGD:735015 D RGD:9068941 20200609 RGD DNA:missense mutation PMID:15081105|REF_RGD_ID:1302434 11919109 DSG4 desmoglein 4 gene DOID:4535 hypotrichosis ISO RGD:735015 D RGD:9068941 20211112 RGD PMID:15606503|REF_RGD_ID:150521560 11919109 DSG4 desmoglein 4 gene DOID:4535 hypotrichosis ISO RGD:735015 D RGD:9068941 20211112 RGD DNA:missense mutation:exon 8 (rat) PMID:15617564|REF_RGD_ID:150521562 11919109 DSG4 desmoglein 4 gene DOID:630 genetic disease ISO RGD:1348036 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11919109 DSG4 desmoglein 4 gene DOID:987 alopecia ISO RGD:735015 D RGD:9068941 20211112 RGD DNA:missense mutation:exon 8 (rat) PMID:15617564|REF_RGD_ID:150521562 11919134 LOC100995326 serotransferrin gene DOID:0050425 restless legs syndrome ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16930377 11919134 LOC100995326 serotransferrin gene DOID:0050425 restless legs syndrome ISO RGD:1342593 D RGD:9068941 20200609 RGD PMID:23369046|REF_RGD_ID:7244177 11919134 LOC100995326 serotransferrin gene DOID:0050642 hypochromic microcytic anemia ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11110675 11919134 LOC100995326 serotransferrin gene DOID:0050649 atransferrinemia ISO RGD:1342593 D RGD:7240710 20180508 OMIM 11919134 LOC100995326 serotransferrin gene DOID:0050649 atransferrinemia ISO RGD:1342593 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Atransferrinemia | ClinVar Annotator: match by term: Familial hypotransferrinemia | ClinVar Annotator: match by term: Transferrin variant chi PMID:11110675|PMID:11703331|PMID:11920219|PMID:12111369|PMID:12752114|PMID:15060098|PMID:15466165|PMID:16398662|PMID:17768112|PMID:17809412|PMID:20029940|PMID:21665994|PMID:25741868|PMID:25773295|PMID:28492532|PMID:34828384|PMID:4625559|PMID:5711079|PMID:5927288|PMID:6585826|PMID:8317485|PMID:9272172 11919134 LOC100995326 serotransferrin gene DOID:10283 prostate cancer ISO RGD:1342593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11919134 LOC100995326 serotransferrin gene DOID:10652 Alzheimer's disease ISO RGD:1342593 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Transferrin variant c1/c2 PMID:15060098|PMID:20029940|PMID:25741868|PMID:28492532|PMID:9272172 11919134 LOC100995326 serotransferrin gene DOID:10763 hypertension ISO RGD:1342593 D RGD:9068941 20200609 RGD protein:decreased expression PMID:14974364|REF_RGD_ID:1601524 11919134 LOC100995326 serotransferrin gene DOID:10976 membranous glomerulonephritis ISO RGD:1342593 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic PMID:22328173|REF_RGD_ID:7244198 11919134 LOC100995326 serotransferrin gene DOID:11758 iron deficiency anemia ISO RGD:1342593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Iron deficiency anemia PMID:11703331|PMID:12752114|PMID:16398662|PMID:28492532 11919134 LOC100995326 serotransferrin gene DOID:11758 iron deficiency anemia susceptibility ISO RGD:1342593 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.G277S PMID:11703331|REF_RGD_ID:1601513 11919134 LOC100995326 serotransferrin gene DOID:1184 nephrotic syndrome ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17178036 11919134 LOC100995326 serotransferrin gene DOID:12849 autistic disorder ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15363659 11919134 LOC100995326 serotransferrin gene DOID:1496 echinococcosis ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24270252 11919134 LOC100995326 serotransferrin gene DOID:1574 alcohol use disorder ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11000917|PMID:21792595 11919134 LOC100995326 serotransferrin gene DOID:1790 malignant mesothelioma ISO RGD:1342593 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26818092 11919134 LOC100995326 serotransferrin gene DOID:2237 hepatitis ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21907177 11919134 LOC100995326 serotransferrin gene DOID:2237 hepatitis ISO RGD:3845 D RGD:9068941 20200609 RGD protein:decreased modification:serum PMID:16480686|REF_RGD_ID:1601541 11919134 LOC100995326 serotransferrin gene DOID:2355 anemia ISO RGD:3845 D RGD:9068941 20200609 RGD associated with Trypanosomiasis;protein:increased expression:serum PMID:23270806|REF_RGD_ID:7244377 11919134 LOC100995326 serotransferrin gene DOID:2355 anemia treatment ISO RGD:1342593 D RGD:9068941 20200609 RGD associated with Heart Failure PMID:23680589|REF_RGD_ID:7244154 11919134 LOC100995326 serotransferrin gene DOID:2921 glomerulonephritis severity ISO RGD:1342593 D RGD:9068941 20200609 RGD PMID:22607047|REF_RGD_ID:7244194 11919134 LOC100995326 serotransferrin gene DOID:3021 acute kidney failure ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 11919134 LOC100995326 serotransferrin gene DOID:305 carcinoma ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942|PMID:9879772 11919134 LOC100995326 serotransferrin gene DOID:3910 lung adenocarcinoma ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 11919134 LOC100995326 serotransferrin gene DOID:4195 hyperglycemia susceptibility ISO RGD:1342593 D RGD:9068941 20200609 RGD PMID:16936158|REF_RGD_ID:1601518 11919134 LOC100995326 serotransferrin gene DOID:630 genetic disease ISO RGD:1342593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11919134 LOC100995326 serotransferrin gene DOID:77 gastrointestinal system disease ISO RGD:1342593 D RGD:9068941 20200609 RGD associated with Anemia and Renal Insufficiency, Chronic PMID:23055815|REF_RGD_ID:7244197 11919134 LOC100995326 serotransferrin gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942|PMID:9879772 11919134 LOC100995326 serotransferrin gene DOID:9000998 Brain Injuries ISO RGD:3845 D RGD:9068941 20200609 RGD PMID:22538758|REF_RGD_ID:7244386 11919134 LOC100995326 serotransferrin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:11406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15650968 11919134 LOC100995326 serotransferrin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3845 D RGD:9068941 20200609 RGD PMID:22464783|REF_RGD_ID:7244387 11919134 LOC100995326 serotransferrin gene DOID:9002165 Diabetic Nephropathies ISO RGD:3845 D RGD:9068941 20200609 RGD PMID:23468095|REF_RGD_ID:7244196 11919134 LOC100995326 serotransferrin gene DOID:9002955 Nerve Degeneration resistance ISO RGD:3845 D RGD:9068941 20200609 RGD PMID:17010319|REF_RGD_ID:1601536 11919134 LOC100995326 serotransferrin gene DOID:9003104 Intracranial Hemorrhages ISO RGD:3845 D RGD:9068941 20200609 RGD associated with Iron-Deficiency Anemia;protein:increased expression:basal ganglia PMID:16671451|REF_RGD_ID:1601537 11919134 LOC100995326 serotransferrin gene DOID:9003565 Paratuberculosis ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22633222 11919134 LOC100995326 serotransferrin gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:1342593 D RGD:9068941 20200609 RGD PMID:22736466|REF_RGD_ID:7244383 11919134 LOC100995326 serotransferrin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20390345 11919134 LOC100995326 serotransferrin gene DOID:9004713 Acute-Phase Reaction ISO RGD:3845 D RGD:9068941 20200609 RGD PMID:17417667|REF_RGD_ID:1601529 11919134 LOC100995326 serotransferrin gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942|PMID:9879772 11919134 LOC100995326 serotransferrin gene DOID:9005372 Inflammation ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008134 11919134 LOC100995326 serotransferrin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3845 D RGD:9068941 20200609 RGD PMID:17081048|REF_RGD_ID:1601532 11919134 LOC100995326 serotransferrin gene DOID:9005725 Iron Overload ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11110675 11919134 LOC100995326 serotransferrin gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:1342593 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17416791|REF_RGD_ID:1601514 11919134 LOC100995326 serotransferrin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 11919134 LOC100995326 serotransferrin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 11919134 LOC100995326 serotransferrin gene DOID:9007692 Insulin Resistance ISO RGD:3845 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17350134|REF_RGD_ID:1601515 11919134 LOC100995326 serotransferrin gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1342593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 11919134 LOC100995326 serotransferrin gene DOID:9270 alkaptonuria ISO RGD:1342593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11919134 LOC100995326 serotransferrin gene DOID:9452 fatty liver disease ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008134|PMID:21907177 11919134 LOC100995326 serotransferrin gene DOID:9744 type 1 diabetes mellitus ISO RGD:1342593 D RGD:9068941 20200609 RGD PMID:22861364|REF_RGD_ID:7244379 11919134 LOC100995326 serotransferrin gene DOID:9970 obesity ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 11919134 LOC100995326 serotransferrin gene DOID:9970 obesity ISO RGD:3845 D RGD:9068941 20200609 RGD PMID:16267817|REF_RGD_ID:1601520 11919206 EPDR1 ependymin related 1 gene DOID:13550 angle-closure glaucoma ISO RGD:1343278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27064256 11919206 EPDR1 ependymin related 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11919206 EPDR1 ependymin related 1 gene DOID:630 genetic disease ISO RGD:1343278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11919213 MYO1G myosin IG gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11919213 MYO1G myosin IG gene DOID:630 genetic disease ISO RGD:1314390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11919239 PACRG parkin coregulated gene DOID:0060368 Parkinson's disease 2 ISO RGD:1352616 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 | ClinVar Annotator: match by term: Young-onset Parkinson disease PMID:12116199|PMID:16328510|PMID:19162522|PMID:20399249|PMID:21993715|PMID:25741868|PMID:25833766|PMID:26467025|PMID:26683220|PMID:28492532|PMID:33045815|PMID:33150996|PMID:33166806 11919239 PACRG parkin coregulated gene DOID:0080855 Parkinsonism ISO RGD:1352616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Juvenile 11919239 PACRG parkin coregulated gene DOID:3910 lung adenocarcinoma ISO RGD:1352616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:12719539 11919239 PACRG parkin coregulated gene DOID:5419 schizophrenia ISO RGD:1352616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11919239 PACRG parkin coregulated gene DOID:630 genetic disease ISO RGD:1352616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11919239 PACRG parkin coregulated gene DOID:9002762 Ovarian Neoplasms ISO RGD:1352616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:25741868 11919254 TMEM102 transmembrane protein 102 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1604962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11919254 TMEM102 transmembrane protein 102 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1604962 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11919254 TMEM102 transmembrane protein 102 gene DOID:1059 intellectual disability ISO RGD:1604962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11919254 TMEM102 transmembrane protein 102 gene DOID:12177 common variable immunodeficiency ISO RGD:1604962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11919254 TMEM102 transmembrane protein 102 gene DOID:2729 dyskeratosis congenita ISO RGD:1604962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11919254 TMEM102 transmembrane protein 102 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1604962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11919254 TMEM102 transmembrane protein 102 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1604962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 11919254 TMEM102 transmembrane protein 102 gene DOID:630 genetic disease ISO RGD:1604962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11919265 B9D2 B9 domain containing 2 gene DOID:0050777 Joubert syndrome ISO RGD:1603296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:21763481|PMID:25741868|PMID:26092869|PMID:28492532|PMID:28771248|PMID:33234550 11919265 B9D2 B9 domain containing 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11919265 B9D2 B9 domain containing 2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1603296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11919265 B9D2 B9 domain containing 2 gene DOID:2340 craniosynostosis ISO RGD:1603296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11919265 B9D2 B9 domain containing 2 gene DOID:630 genetic disease ISO RGD:1603296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11919265 B9D2 B9 domain containing 2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1603296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11919265 B9D2 B9 domain containing 2 gene DOID:9004364 Meckel Syndrome 10 ISO RGD:1603296 D RGD:7240710 20180130 OMIM 11919265 B9D2 B9 domain containing 2 gene DOID:9004364 Meckel Syndrome 10 ISO RGD:1603296 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Joubert syndrome 34 | ClinVar Annotator: match by term: Meckel syndrome, type 10 PMID:21763481|PMID:25741868|PMID:26092869|PMID:28492532|PMID:28771248|PMID:31411728|PMID:33234550 11919265 B9D2 B9 domain containing 2 gene DOID:9269 maple syrup urine disease ISO RGD:1603296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11919273 SLC1A4 solute carrier family 1 member 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1345199 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11919273 SLC1A4 solute carrier family 1 member 4 gene DOID:10907 microcephaly ISO RGD:1345199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11919273 SLC1A4 solute carrier family 1 member 4 gene DOID:630 genetic disease ISO RGD:1345199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26041762|PMID:27193218|PMID:2837306|PMID:28492532|PMID:34174466 11919273 SLC1A4 solute carrier family 1 member 4 gene DOID:9004845 Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly ISO RGD:1345199 D RGD:7240710 20180130 OMIM 11919273 SLC1A4 solute carrier family 1 member 4 gene DOID:9004845 Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly ISO RGD:1345199 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly PMID:25741868|PMID:25930971|PMID:26041762|PMID:26138499|PMID:27193218|PMID:27848944|PMID:2837306|PMID:28492532|PMID:29989513|PMID:30125339|PMID:32404165|PMID:34174466 11919317 MAP4 microtubule associated protein 4 gene DOID:0060165 Kleine-Levin syndrome ISO RGD:1343248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kleine-Levin syndrome 11919317 MAP4 microtubule associated protein 4 gene DOID:630 genetic disease ISO RGD:1343248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11919317 MAP4 microtubule associated protein 4 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1343248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11919317 MAP4 microtubule associated protein 4 gene DOID:9004657 Weight Gain ISO RGD:1343248 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11919401 SLC35G5 solute carrier family 35 member G5 gene DOID:630 genetic disease ISO RGD:1605928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11919401 SLC35G5 solute carrier family 35 member G5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11919402 AZU1 azurocidin 1 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1345072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 11919402 AZU1 azurocidin 1 gene DOID:5339 cyclic hematopoiesis ISO RGD:1345072 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11919402 AZU1 azurocidin 1 gene DOID:630 genetic disease ISO RGD:1345072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11919438 LHX2 LIM homeobox 2 gene DOID:630 genetic disease ISO RGD:733849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11919438 LHX2 LIM homeobox 2 gene DOID:7148 rheumatoid arthritis ISO RGD:733849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 11919447 BAZ2A bromodomain adjacent to zinc finger domain 2A gene DOID:630 genetic disease ISO RGD:1312828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11919447 BAZ2A bromodomain adjacent to zinc finger domain 2A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25485837 11919514 R3HDM4 R3H domain containing 4 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1316037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 11919514 R3HDM4 R3H domain containing 4 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1316037 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 11919514 R3HDM4 R3H domain containing 4 gene DOID:5339 cyclic hematopoiesis ISO RGD:1316037 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11919514 R3HDM4 R3H domain containing 4 gene DOID:630 genetic disease ISO RGD:1316037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11919558 BTBD10 BTB domain containing 10 gene DOID:1059 intellectual disability ISO RGD:1601947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11919558 BTBD10 BTB domain containing 10 gene DOID:630 genetic disease ISO RGD:1601947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11919583 JPT1 Jupiter microtubule associated homolog 1 gene DOID:630 genetic disease ISO RGD:1348734 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11919594 LRRN3 leucine rich repeat neuronal 3 gene DOID:0060041 autism spectrum disorder ISO RGD:734364 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20678249 11919594 LRRN3 leucine rich repeat neuronal 3 gene DOID:0111275 speech-language disorder-1 ISO RGD:734364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood apraxia of speech PMID:25422445 11919594 LRRN3 leucine rich repeat neuronal 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:734364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11919594 LRRN3 leucine rich repeat neuronal 3 gene DOID:5419 schizophrenia ISO RGD:734364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11919594 LRRN3 leucine rich repeat neuronal 3 gene DOID:630 genetic disease ISO RGD:734364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11919602 KIF17 kinesin family member 17 gene DOID:0060041 autism spectrum disorder ISO RGD:1344438 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11919602 KIF17 kinesin family member 17 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1344438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11919602 KIF17 kinesin family member 17 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1344438 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11919602 KIF17 kinesin family member 17 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1344438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11919602 KIF17 kinesin family member 17 gene DOID:630 genetic disease ISO RGD:1344438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11919602 KIF17 kinesin family member 17 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1344438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11919631 EXO5 exonuclease 5 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1601975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11919631 EXO5 exonuclease 5 gene DOID:630 genetic disease ISO RGD:1601975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11919661 RIC3 RIC3 acetylcholine receptor chaperone gene DOID:630 genetic disease ISO RGD:1606245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11919661 RIC3 RIC3 acetylcholine receptor chaperone gene DOID:8501 fundus dystrophy ISO RGD:1606245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17576681|PMID:28492532|PMID:9536098 11919661 RIC3 RIC3 acetylcholine receptor chaperone gene DOID:9009014 Retinal Dystrophy and Obesity ISO RGD:1606245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy and obesity PMID:16199547|PMID:24375934|PMID:25741868|PMID:28492532|PMID:31785789 11919691 ACP3 acid phosphatase 3 gene DOID:10283 prostate cancer ISO RGD:736505 D RGD:9068941 20200609 RGD PMID:16024648|REF_RGD_ID:2301055 11919691 ACP3 acid phosphatase 3 gene DOID:10283 prostate cancer ISO RGD:736506 D RGD:9068941 20220825 MouseDO OMIM:176807 | OMIM:300147 | OMIM:300704 | OMIM:601518 | OMIM:602759 | OMIM:608656 | OMIM:608658 | OMIM:609299 | OMIM:609558 | OMIM:610321 | OMIM:610997 | OMIM:611100 | OMIM:611868 | OMIM:611928 | OMIM:611955 | OMIM:611958 | OMIM:611959 11919691 ACP3 acid phosphatase 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:736505 D RGD:9068941 20200609 RGD PSA/PAP (prostatic acid phosphatase) ratio - a valuable prognostic indicator in men with Stage IV prostate cancer PMID:17991541|REF_RGD_ID:2301054 11919691 ACP3 acid phosphatase 3 gene DOID:630 genetic disease ISO RGD:736505 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11919691 ACP3 acid phosphatase 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:736505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11919691 ACP3 acid phosphatase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736505 D RGD:9068941 20200609 RGD a positive cis-element in the promoter involved in regulating prostate cell-specific expression of the gene PMID:15240830|REF_RGD_ID:2301052 11919691 ACP3 acid phosphatase 3 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:736505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 11919691 ACP3 acid phosphatase 3 gene DOID:9270 alkaptonuria ISO RGD:736505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11919706 SH3TC1 SH3 domain and tetratricopeptide repeats 1 gene DOID:630 genetic disease ISO RGD:1313741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11919706 SH3TC1 SH3 domain and tetratricopeptide repeats 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 11919742 ABHD17A abhydrolase domain containing 17A, depalmitoylase gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1347246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 11919742 ABHD17A abhydrolase domain containing 17A, depalmitoylase gene DOID:5339 cyclic hematopoiesis ISO RGD:1347246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11919742 ABHD17A abhydrolase domain containing 17A, depalmitoylase gene DOID:630 genetic disease ISO RGD:1347246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11919742 ABHD17A abhydrolase domain containing 17A, depalmitoylase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11919755 CRTAM cytotoxic and regulatory T cell molecule gene DOID:5419 schizophrenia ISO RGD:1606263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11919755 CRTAM cytotoxic and regulatory T cell molecule gene DOID:630 genetic disease ISO RGD:1606263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11919755 CRTAM cytotoxic and regulatory T cell molecule gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11919755 CRTAM cytotoxic and regulatory T cell molecule gene DOID:9007661 Dwarfism ISO RGD:1606263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11919769 AFF3 ALF transcription elongation factor 3 gene DOID:0112383 KINSSHIP syndrome ISO RGD:1318349 D RGD:7240710 20210623 OMIM 11919769 AFF3 ALF transcription elongation factor 3 gene DOID:0112383 KINSSHIP syndrome ISO RGD:1318349 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: KINSSHIP syndrome PMID:25741868|PMID:31388108|PMID:33961779 11919769 AFF3 ALF transcription elongation factor 3 gene DOID:303 substance-related disorder ISO RGD:1318349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11919769 AFF3 ALF transcription elongation factor 3 gene DOID:630 genetic disease ISO RGD:1318349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11919769 AFF3 ALF transcription elongation factor 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1318349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 11919812 SURF2 surfeit 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1345081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 11919812 SURF2 surfeit 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1345081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11919812 SURF2 surfeit 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1345081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11919812 SURF2 surfeit 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1345081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11919812 SURF2 surfeit 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1345081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11919812 SURF2 surfeit 2 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1345081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11919812 SURF2 surfeit 2 gene DOID:3652 Leigh disease ISO RGD:1345081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11919812 SURF2 surfeit 2 gene DOID:630 genetic disease ISO RGD:1345081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11919822 SULT6B1 sulfotransferase family 6B member 1 gene DOID:0080690 RASopathy ISO RGD:1626598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11919822 SULT6B1 sulfotransferase family 6B member 1 gene DOID:630 genetic disease ISO RGD:1626598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11919836 RTN4RL1 reticulon 4 receptor like 1 gene DOID:630 genetic disease ISO RGD:1348623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11919843 SMG6 SMG6 nonsense mediated mRNA decay factor gene DOID:630 genetic disease ISO RGD:1320039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11919843 SMG6 SMG6 nonsense mediated mRNA decay factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11919880 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:0040084 Streptococcus pneumonia severity ISO RGD:733815 D RGD:9068941 20201117 RGD PMID:21887255|REF_RGD_ID:40818252 11919880 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:0050211 swine influenza ISO RGD:733815 D RGD:9068941 20201117 RGD PMID:20130050|REF_RGD_ID:40818269 11919880 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:0050211 swine influenza severity ISO RGD:733815 D RGD:9068941 20201117 RGD PMID:23602571|REF_RGD_ID:40818268 11919880 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:0060704 lymphoproliferative syndrome disease_progression ISO RGD:1348186 D RGD:9068941 20201105 RGD associated with Postoperative Complications and Epstein-Barr Virus Infections; protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:22105417|REF_RGD_ID:39128180 11919880 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:11168 anogenital venereal wart ISO RGD:1348186 D RGD:9068941 20201105 RGD mRNA,protein:decreased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 11919880 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:12155 lymphocytic choriomeningitis ISO RGD:733815 D RGD:9068941 20201118 RGD PMID:30995287|REF_RGD_ID:40818298 11919880 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:1508 candidiasis disease_progression ISO RGD:733815 D RGD:9068941 20201113 RGD PMID:27736647|REF_RGD_ID:40818241 11919880 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:1883 hepatitis C disease_progression ISO RGD:1348186 D RGD:9068941 20201112 RGD protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:17553896|REF_RGD_ID:40400745 11919880 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:630 genetic disease ISO RGD:1348186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11919880 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:635 acquired immunodeficiency syndrome ISO RGD:1348186 D RGD:9068941 20201117 RGD protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) PMID:27382604|REF_RGD_ID:40818276 11919880 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:9003284 HIV Seropositivity ISO RGD:1348186 D RGD:9068941 20201118 RGD protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:27091211|REF_RGD_ID:40818300 11919880 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:9003284 HIV Seropositivity treatment ISO RGD:1348186 D RGD:9068941 20201117 RGD PMID:18724804|REF_RGD_ID:40818277 11919880 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:9003652 Hydatidiform Mole, Recurrent, 1 ISO RGD:1348186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 PMID:11598368|PMID:14756744|PMID:16199547|PMID:16239310|PMID:16462743|PMID:18039680|PMID:19054016|PMID:19066229|PMID:19246479|PMID:19309689|PMID:19650864|PMID:21507883|PMID:21659348|PMID:21948117|PMID:22315435|PMID:22361007|PMID:22646272|PMID:23201303|PMID:23354651|PMID:24033266|PMID:24105752|PMID:25082979|PMID:25097207|PMID:25741868|PMID:26956250|PMID:28492532 11919880 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1348186 D RGD:9068941 20201112 RGD protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:20550548|REF_RGD_ID:40818079 11919880 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1348186 D RGD:9068941 20201118 RGD protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:23813131|REF_RGD_ID:40818297 11919880 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1348186 D RGD:9068941 20201106 RGD protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:21168454|REF_RGD_ID:40400738 11919880 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1348186 D RGD:9068941 20201112 RGD protein:decreased expression:liver, natural killer cell (human) PMID:25148254|REF_RGD_ID:40813739 11919880 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1348186 D RGD:9068941 20201118 RGD PMID:16322112|PMID:21695691|PMID:31218578|REF_RGD_ID:40400920|REF_RGD_ID:40818295|REF_RGD_ID:40818296 11919880 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:9005147 Hydatidiform Mole ISO RGD:1348186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydatidiform mole PMID:24033266|PMID:25741868 11919880 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:733815 D RGD:9068941 20201113 RGD PMID:26371250|REF_RGD_ID:40818246 11919880 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:9006262 Cytomegalovirus Infections disease_progression ISO RGD:733815 D RGD:9068941 20201113 RGD PMID:28643847|REF_RGD_ID:40818245 11919880 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:9006262 Cytomegalovirus Infections susceptibility ISO RGD:733815 D RGD:9068941 20201117 RGD PMID:22267813|REF_RGD_ID:40818251 11919880 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:9006262 Cytomegalovirus Infections susceptibility ISO RGD:733815 D RGD:9068941 20201117 RGD DNA:SNP:cds: p.C14R (mouse) PMID:29440507|REF_RGD_ID:40818249 11919880 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1348186 D RGD:9068941 20201105 RGD protein:decreased expression:Peripheral blood mononuclear cell, natural killer cell (human) PMID:29625837|REF_RGD_ID:39128177 11919880 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:1348186 D RGD:9068941 20201113 RGD protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:26291078|REF_RGD_ID:40818237 11919880 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:1348186 D RGD:9068941 20201105 RGD protein:increased expression:Peripheral blood mononuclear cell, natural killer cell (human) PMID:28328926|REF_RGD_ID:40400737 11919898 EHD3 EH domain containing 3 gene DOID:630 genetic disease ISO RGD:1346639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11919898 EHD3 EH domain containing 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1346639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11919898 EHD3 EH domain containing 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1346639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11919908 AHI1 Abelson helper integration site 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:1348620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:15322546|PMID:16155189|PMID:16453322|PMID:25525159|PMID:25616960|PMID:25741868|PMID:26035800|PMID:26092869|PMID:28118669|PMID:28442542|PMID:28492532|PMID:29186038 11919908 AHI1 Abelson helper integration site 1 gene DOID:0050777 Joubert syndrome ISO RGD:1348620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:15322546|PMID:15467982|PMID:16155189|PMID:16199547|PMID:16453322|PMID:16541367|PMID:17377524|PMID:17409309|PMID:17576681|PMID:18054307|PMID:18414213|PMID:20301500|PMID:21068128|PMID:21623382|PMID:21866095|PMID:21937992|PMID:22236771|PMID:22693042|PMID:22773737|PMID:23532844|PMID:24033266|PMID:24690944|PMID:25326637|PMID:25356976|PMID:25525159|PMID:25616960|PMID:25640679|PMID:25741868|PMID:25920555|PMID:26035799|PMID:26035800|PMID:26092869|PMID:26467025|PMID:26541515|PMID:26729329|PMID:26759440|PMID:27434533|PMID:28041643|PMID:28097321|PMID:28118669|PMID:28125082|PMID:28431631|PMID:28442542|PMID:28492532|PMID:28497568|PMID:29186038|PMID:29343940|PMID:30755392|PMID:31319225|PMID:31624253|PMID:32335874|PMID:32865313|PMID:33921607|PMID:34191236|PMID:34205586|PMID:34627237|PMID:34906502|PMID:9536098 11919908 AHI1 Abelson helper integration site 1 gene DOID:0060025 immunoglobulin alpha deficiency ISO RGD:1348620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27723758 11919908 AHI1 Abelson helper integration site 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1348620 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype PMID:18782849|REF_RGD_ID:11537389 11919908 AHI1 Abelson helper integration site 1 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1348620 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 11919908 AHI1 Abelson helper integration site 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1348620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:15322546|PMID:15467982|PMID:16155189|PMID:16199547|PMID:16453322|PMID:17409309|PMID:17576681|PMID:18054307|PMID:18414213|PMID:21068128|PMID:21623382|PMID:21866095|PMID:21937992|PMID:22236771|PMID:22693042|PMID:22773737|PMID:24033266|PMID:24690944|PMID:25326637|PMID:25356976|PMID:25525159|PMID:25616960|PMID:25640679|PMID:25741868|PMID:25920555|PMID:26035799|PMID:26035800|PMID:26092869|PMID:26467025|PMID:26729329|PMID:26759440|PMID:28041643|PMID:28118669|PMID:28431631|PMID:28442542|PMID:28492532|PMID:28497568|PMID:29186038|PMID:31319225|PMID:32865313|PMID:34906502|PMID:9536098 11919908 AHI1 Abelson helper integration site 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1348620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 1 PMID:15322546|PMID:15467982|PMID:16199547|PMID:16453322|PMID:20301500|PMID:25616960|PMID:25741868|PMID:26035800|PMID:28442542|PMID:28492532|PMID:29186038|PMID:32865313 11919908 AHI1 Abelson helper integration site 1 gene DOID:0110998 Joubert syndrome 3 ISO RGD:1348620 D RGD:7240710 20180130 OMIM 11919908 AHI1 Abelson helper integration site 1 gene DOID:0110998 Joubert syndrome 3 ISO RGD:1348620 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome 3 PMID:15322546|PMID:15467982|PMID:16155189|PMID:16199547|PMID:16240161|PMID:16453322|PMID:16541367|PMID:17377524|PMID:17409309|PMID:17576681|PMID:18054307|PMID:18414213|PMID:20301500|PMID:21068128|PMID:21623382|PMID:21866095|PMID:21937992|PMID:22236771|PMID:22693042|PMID:22773737|PMID:23532844|PMID:24033266|PMID:24690944|PMID:25326637|PMID:25356976|PMID:25445212|PMID:25525159|PMID:25558065|PMID:25616960|PMID:25741868|PMID:25741869|PMID:25920555|PMID:26035799|PMID:26035800|PMID:26092869|PMID:26467025|PMID:26541515|PMID:28041643|PMID:28097321|PMID:28118669|PMID:28431631|PMID:28442542|PMID:28492532|PMID:29186038|PMID:29343940|PMID:31130284|PMID:31624253|PMID:32165824|PMID:32865313|PMID:34191236|PMID:34906502|PMID:9536098 11919908 AHI1 Abelson helper integration site 1 gene DOID:0110999 Joubert syndrome 4 ISO RGD:1317734 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R830W (c.2488C>T) (human) PMID:17409309|REF_RGD_ID:7246903 11919908 AHI1 Abelson helper integration site 1 gene DOID:0111589 COACH syndrome ISO RGD:1348620 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Joubert syndrome with ocular defect PMID:15322546|PMID:16453322|PMID:18054307|PMID:21623382|PMID:21937992|PMID:25525159|PMID:25741868|PMID:26092869|PMID:28442542|PMID:28492532|PMID:29186038 11919908 AHI1 Abelson helper integration site 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1348620 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15322546|PMID:16453322|PMID:21866095|PMID:24033266|PMID:25445212|PMID:25741868|PMID:26092869|PMID:28041643|PMID:28431631|PMID:28442542|PMID:28492532|PMID:29186038|PMID:32165824|PMID:34191236 11919908 AHI1 Abelson helper integration site 1 gene DOID:1059 intellectual disability ISO RGD:1348620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:16453322|PMID:25741868|PMID:28492532 11919908 AHI1 Abelson helper integration site 1 gene DOID:12712 nephronophthisis ISO RGD:1348620 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15322546|PMID:16155189|PMID:16453322|PMID:25741868|PMID:26092869|PMID:28442542|PMID:28492532|PMID:29186038 11919908 AHI1 Abelson helper integration site 1 gene DOID:12849 autistic disorder ISO RGD:1348620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18782849 11919908 AHI1 Abelson helper integration site 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1348620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25445212|PMID:25741868|PMID:26092869|PMID:28431631|PMID:28442542|PMID:32165824 11919908 AHI1 Abelson helper integration site 1 gene DOID:2786 cerebellar disease ISO RGD:1348620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20371615 11919908 AHI1 Abelson helper integration site 1 gene DOID:5419 schizophrenia ISO RGD:1348620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20371615 11919908 AHI1 Abelson helper integration site 1 gene DOID:630 genetic disease ISO RGD:1348620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15322546|PMID:16453322|PMID:17409309|PMID:17576681|PMID:21068128|PMID:22693042|PMID:25741868|PMID:28442542|PMID:28492532|PMID:29186038|PMID:9536098 11919908 AHI1 Abelson helper integration site 1 gene DOID:8466 retinal degeneration ISO RGD:1348620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20081859 11919908 AHI1 Abelson helper integration site 1 gene DOID:8501 fundus dystrophy ISO RGD:1348620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15322546|PMID:16155189|PMID:16453322|PMID:18054307|PMID:21068128|PMID:21937992|PMID:24033266|PMID:25525159|PMID:25616960|PMID:25741868|PMID:26035800|PMID:26092869|PMID:28041643|PMID:28442542|PMID:28492532|PMID:29186038|PMID:34191236 11919908 AHI1 Abelson helper integration site 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1348620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:15322546|PMID:23532844|PMID:25558065|PMID:25741868|PMID:28492532|PMID:30755392 11919908 AHI1 Abelson helper integration site 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1348620 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:28041643 11919908 AHI1 Abelson helper integration site 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1348620 D RGD:9068941 20200609 RGD mRNA:increased expression:vastus lateralis PMID:20045148|REF_RGD_ID:11537398 11919908 AHI1 Abelson helper integration site 1 gene DOID:9970 obesity ISO RGD:1348620 D RGD:9068941 20200609 RGD mRNA:increased expression:vastus lateralis PMID:20045148|REF_RGD_ID:11537398 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0050777 Joubert syndrome ISO RGD:731784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0060041 autism spectrum disorder ISO RGD:731784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:25741868|PMID:28492532 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:731784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:731784 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:731784 D RGD:7240710 20180130 OMIM 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:731784 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GRIN1-Related Disorder | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 8 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:10197535|PMID:12451122|PMID:16199547|PMID:16826528|PMID:17576681|PMID:19264732|PMID:20716669|PMID:21376300|PMID:22246434|PMID:22833210|PMID:24088041|PMID:25008524|PMID:25326635|PMID:25590979|PMID:25741868|PMID:25864721|PMID:26350515|PMID:26467025|PMID:26633545|PMID:26833960|PMID:27159321|PMID:27164704|PMID:28051072|PMID:28228639|PMID:28389307|PMID:28492532|PMID:28507080|PMID:29365063|PMID:29720203|PMID:30217972|PMID:30355546|PMID:30755392|PMID:30776697|PMID:31219694|PMID:31429998|PMID:31487502|PMID:32827528|PMID:33122756|PMID:33333793|PMID:34884460|PMID:35393335|PMID:9536098 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:731784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:731784 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:731784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:731784 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:731784 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome PMID:25741868|PMID:28492532 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0081097 Rafiq syndrome ISO RGD:731784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:10283 prostate cancer ISO RGD:731784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:1059 intellectual disability ISO RGD:731784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10201407|PMID:25008524|PMID:25167861|PMID:25741868|PMID:27159321|PMID:27164704|PMID:28228639|PMID:28389307|PMID:28492532|PMID:30776697|PMID:33122756 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:10652 Alzheimer's disease ISO RGD:731784 D RGD:9068941 20200609 RGD PMID:24156266|REF_RGD_ID:13792688 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:11446 sciatic neuropathy ISO RGD:2736 D RGD:9068941 20200609 RGD PMID:26656067|REF_RGD_ID:13792690 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:12098 trigeminal neuralgia ISO RGD:731784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:12849 autistic disorder ISO RGD:731784 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:25741868|PMID:28492532 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:12849 autistic disorder ISO RGD:731784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:25741868|PMID:27159321|PMID:28492532|PMID:30755392 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:1561 cognitive disorder ISO RGD:2736 D RGD:9068941 20200609 RGD associated with Fetal Hypoxia;mRNA, protein:decreased expression:hippocampus PMID:26656067|REF_RGD_ID:13792690 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:1574 alcohol use disorder ISO RGD:731784 D RGD:9068941 20200609 RGD PMID:14573320|REF_RGD_ID:1642372 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:1824 status epilepticus ISO RGD:2736 D RGD:9068941 20200609 RGD PMID:25457025|REF_RGD_ID:13792697 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:1826 epilepsy ISO RGD:731784 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:20716669|PMID:22246434|PMID:24088041|PMID:25741868|PMID:26633545|PMID:27164704|PMID:28228639|PMID:28492532|PMID:31429998|PMID:31487502|PMID:34884460 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:2468 psychotic disorder ISO RGD:731784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:731784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:29358611 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2736 D RGD:9068941 20200609 RGD PMID:26674869|REF_RGD_ID:11068571 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:3526 cerebral infarction severity ISO RGD:731784 D RGD:9068941 20200609 RGD PMID:23723305|REF_RGD_ID:13792693 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:3652 Leigh disease ISO RGD:731784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:3891 placental insufficiency ISO RGD:2736 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:hippocampus (rat) PMID:19144756|REF_RGD_ID:2326049 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:5419 schizophrenia ISO RGD:10685 D RGD:9068941 20220825 MouseDO OMIM:181500 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:630 genetic disease ISO RGD:731784 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10197535|PMID:10201407|PMID:12451122|PMID:15970596|PMID:17576681|PMID:20716669|PMID:22246434|PMID:22833210|PMID:24088041|PMID:25008524|PMID:25741868|PMID:26467025|PMID:26633545|PMID:27159321|PMID:27164704|PMID:28228639|PMID:28492532|PMID:29720203|PMID:30776697|PMID:31429998|PMID:31487502|PMID:34884460|PMID:9536098 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:8725 vascular dementia ISO RGD:731784 D RGD:9068941 20200609 RGD associated with Alzheimer's disease PMID:25261450|REF_RGD_ID:13792687 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9000271 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation ISO RGD:731784 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation PMID:25741868 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9000641 Pain ISO RGD:731784 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18155693 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9002211 Hyperalgesia ISO RGD:731784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9003569 Developmental and Epileptic Encephalopathy 101 ISO RGD:731784 D RGD:7240710 20220406 OMIM 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9003569 Developmental and Epileptic Encephalopathy 101 ISO RGD:731784 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 101 PMID:25741868|PMID:27164704|PMID:28492532|PMID:31219694|PMID:34611970 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2736 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus (rat) PMID:19761817|REF_RGD_ID:2325954 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9003816 Macrocephaly ISO RGD:731784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868|PMID:27159321|PMID:28492532|PMID:30755392 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25326635|PMID:25741868|PMID:27164704 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9005466 Language Development Disorders ISO RGD:731784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Expressive language delay PMID:25741868|PMID:27159321|PMID:28492532|PMID:30755392 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16014726|PMID:20149346 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:731784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9006205 Animal Disease Models ISO RGD:731784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9007956 Febrile Seizures ISO RGD:731784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Febrile seizures PMID:25741868|PMID:27159321|PMID:28492532|PMID:30755392 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9008086 Developmental Disabilities ISO RGD:731784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:27159321|PMID:28492532|PMID:30755392 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9008237 Hemimegalencephaly ISO RGD:731784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemimegalencephaly PMID:25741868 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9009115 Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive ISO RGD:731784 D RGD:7240710 20190315 OMIM 11919942 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9009115 Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive ISO RGD:731784 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive PMID:22833210|PMID:25741868|PMID:26350515|PMID:26467025|PMID:27159321|PMID:27164704|PMID:28051072|PMID:28492532|PMID:30776697 11919977 CLCN7 chloride voltage-gated channel 7 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:731480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 11919977 CLCN7 chloride voltage-gated channel 7 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:731480 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11919977 CLCN7 chloride voltage-gated channel 7 gene DOID:0110938 autosomal dominant osteopetrosis 2 ISO RGD:731480 D RGD:7240710 20180130 OMIM 11919977 CLCN7 chloride voltage-gated channel 7 gene DOID:0110938 autosomal dominant osteopetrosis 2 ISO RGD:731480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 2 PMID:11468688|PMID:11741829|PMID:14584882|PMID:15111300|PMID:1516225|PMID:16118345|PMID:17164308|PMID:17576681|PMID:19238435|PMID:19543743|PMID:19953639|PMID:20301306|PMID:21527911|PMID:21947783|PMID:21962762|PMID:23296056|PMID:23983121|PMID:25741868|PMID:26056022|PMID:26365571|PMID:28492532|PMID:29620724|PMID:30229577|PMID:30942407|PMID:31412925|PMID:32369273|PMID:32552793|PMID:32860008|PMID:9536098 11919977 CLCN7 chloride voltage-gated channel 7 gene DOID:0110944 autosomal recessive osteopetrosis 4 ISO RGD:731480 D RGD:7240710 20180130 OMIM 11919977 CLCN7 chloride voltage-gated channel 7 gene DOID:0110944 autosomal recessive osteopetrosis 4 ISO RGD:731480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 4 | ClinVar Annotator: match by term: Osteopetrosis infantile malignant 2 PMID:11207362|PMID:11468688|PMID:11741829|PMID:1516225|PMID:16118345|PMID:16234969|PMID:17033731|PMID:19953639|PMID:199553639|PMID:20301306|PMID:21947783|PMID:23296056|PMID:25741868|PMID:26056022|PMID:28492532|PMID:30229577 11919977 CLCN7 chloride voltage-gated channel 7 gene DOID:13533 osteopetrosis ISO RGD:731480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Albers-Schoenberg disease | ClinVar Annotator: match by term: Osteopetrosis PMID:11741829|PMID:14584882|PMID:16234969|PMID:17164308|PMID:19543743|PMID:20301306|PMID:21527911|PMID:21962762|PMID:23983121|PMID:25410126|PMID:25741868|PMID:26365571|PMID:28492532|PMID:30942407|PMID:31412925|PMID:32369273 11919977 CLCN7 chloride voltage-gated channel 7 gene DOID:1826 epilepsy ISO RGD:731480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11919977 CLCN7 chloride voltage-gated channel 7 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:731480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11919977 CLCN7 chloride voltage-gated channel 7 gene DOID:4254 osteosclerosis ISO RGD:731480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:11741829|PMID:14584882|PMID:16234969|PMID:17164308|PMID:19543743|PMID:20301306|PMID:21527911|PMID:21962762|PMID:23983121|PMID:25741868|PMID:26365571|PMID:28492532|PMID:30942407|PMID:31085352|PMID:31412925|PMID:32369273 11919977 CLCN7 chloride voltage-gated channel 7 gene DOID:630 genetic disease ISO RGD:731480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11741829|PMID:14584882|PMID:17164308|PMID:19543743|PMID:20424301|PMID:21527911|PMID:21962762|PMID:23983121|PMID:25741868|PMID:26365571|PMID:28492532|PMID:30942407|PMID:31412925|PMID:32369273 11919977 CLCN7 chloride voltage-gated channel 7 gene DOID:65 connective tissue disease ISO RGD:731480 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 11919977 CLCN7 chloride voltage-gated channel 7 gene DOID:8466 retinal degeneration ISO RGD:62127 D RGD:9068941 20200609 RGD PMID:11207362|REF_RGD_ID:737783 11919977 CLCN7 chloride voltage-gated channel 7 gene DOID:9000641 Pain ISO RGD:61836 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord dorsal horn PMID:11846422|REF_RGD_ID:1600865 11919977 CLCN7 chloride voltage-gated channel 7 gene DOID:9004721 HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT ISO RGD:731480 D RGD:7240710 20191009 OMIM 11919977 CLCN7 chloride voltage-gated channel 7 gene DOID:9004721 HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT ISO RGD:731480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypopigmentation, organomegaly, and delayed myelination and development PMID:25741868|PMID:28492532|PMID:31155284 11920009 CSMD3 CUB and Sushi multiple domains 3 gene DOID:12849 autistic disorder ISO RGD:1316806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18270536 11920009 CSMD3 CUB and Sushi multiple domains 3 gene DOID:303 substance-related disorder ISO RGD:1316806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11920009 CSMD3 CUB and Sushi multiple domains 3 gene DOID:4450 renal cell carcinoma ISO RGD:1316806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691|PMID:23797736 11920009 CSMD3 CUB and Sushi multiple domains 3 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11920009 CSMD3 CUB and Sushi multiple domains 3 gene DOID:630 genetic disease ISO RGD:1316806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11920089 B3GNT9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1603192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11920089 B3GNT9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 gene DOID:0110255 cataract 5 multiple types ISO RGD:1603192 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 11920089 B3GNT9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 gene DOID:630 genetic disease ISO RGD:1603192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11920089 B3GNT9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 gene DOID:7148 rheumatoid arthritis ISO RGD:1603192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17379860 11920095 LOC100990531 uncharacterized LOC100990531 gene DOID:1206 Rett syndrome ISO RGD:10591 D RGD:9068941 20230511 MouseDO OMIM:312750 | OMIM:613454 11920103 ARAF A-Raf proto-oncogene, serine/threonine kinase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11920103 ARAF A-Raf proto-oncogene, serine/threonine kinase gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1348364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 11920103 ARAF A-Raf proto-oncogene, serine/threonine kinase gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1348364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11920103 ARAF A-Raf proto-oncogene, serine/threonine kinase gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1348364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11920103 ARAF A-Raf proto-oncogene, serine/threonine kinase gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1348364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 11920103 ARAF A-Raf proto-oncogene, serine/threonine kinase gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1348364 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 11920103 ARAF A-Raf proto-oncogene, serine/threonine kinase gene DOID:12849 autistic disorder ISO RGD:1348364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11920103 ARAF A-Raf proto-oncogene, serine/threonine kinase gene DOID:3070 high grade glioma disease_progression ISO RGD:1348364 D RGD:9068941 20200609 RGD PMID:27852048|REF_RGD_ID:13702476 11920103 ARAF A-Raf proto-oncogene, serine/threonine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1348364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:24569458|PMID:26619011 11920103 ARAF A-Raf proto-oncogene, serine/threonine kinase gene DOID:3910 lung adenocarcinoma ISO RGD:1348364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:24569458|PMID:26619011 11920103 ARAF A-Raf proto-oncogene, serine/threonine kinase gene DOID:4465 papillary renal cell carcinoma ISO RGD:1348364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:24569458|PMID:26619011 11920103 ARAF A-Raf proto-oncogene, serine/threonine kinase gene DOID:630 genetic disease ISO RGD:1348364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11920103 ARAF A-Raf proto-oncogene, serine/threonine kinase gene DOID:8923 skin melanoma ISO RGD:1348364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:24569458|PMID:26619011 11920103 ARAF A-Raf proto-oncogene, serine/threonine kinase gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:1348364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:24569458|PMID:26619011 11920103 ARAF A-Raf proto-oncogene, serine/threonine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:1348364 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12432273 11920125 NGLY1 N-glycanase 1 gene DOID:0060728 NGLY1-deficiency ISO RGD:1318334 D RGD:7240710 20180130 OMIM 11920125 NGLY1 N-glycanase 1 gene DOID:0060728 NGLY1-deficiency ISO RGD:1318334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of deglycosylation | ClinVar Annotator: match by term: Congenital disorder of deglycosylation 1 PMID:16199547|PMID:17576681|PMID:18414213|PMID:22581936|PMID:24088041|PMID:24651605|PMID:25220016|PMID:25356970|PMID:25741868|PMID:25900930|PMID:26350515|PMID:26633545|PMID:26795593|PMID:27388694|PMID:28330790|PMID:28492532|PMID:29419975|PMID:29550355|PMID:30740912|PMID:31311714|PMID:31497478|PMID:31957011|PMID:31965062|PMID:32123317|PMID:32422350|PMID:32576142|PMID:9536098 11920125 NGLY1 N-glycanase 1 gene DOID:0111800 syndromic microphthalmia 12 ISO RGD:1318334 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Microphthalmia, syndromic 12 PMID:24651605|PMID:28492532 11920125 NGLY1 N-glycanase 1 gene DOID:1059 intellectual disability ISO RGD:1318334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24651605|PMID:25220016|PMID:28492532 11920125 NGLY1 N-glycanase 1 gene DOID:630 genetic disease ISO RGD:1318334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24651605|PMID:25356970|PMID:25741868|PMID:26795593|PMID:28330790|PMID:28492532|PMID:31311714|PMID:31497478|PMID:31965062 11920125 NGLY1 N-glycanase 1 gene DOID:9000842 Proteostasis Deficiencies ISO RGD:1308518 D RGD:9068941 20201015 RGD PMID:32259258|REF_RGD_ID:39457703 11920125 NGLY1 N-glycanase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318334 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868|PMID:29550355|PMID:31965062 11920125 NGLY1 N-glycanase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1318334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:32581362 11920142 TMEM128 transmembrane protein 128 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1602670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 11920142 TMEM128 transmembrane protein 128 gene DOID:630 genetic disease ISO RGD:1602670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11920160 DKC1 dyskerin pseudouridine synthase 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1349510 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11920160 DKC1 dyskerin pseudouridine synthase 1 gene DOID:0050476 Barth syndrome ISO RGD:1349510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11920160 DKC1 dyskerin pseudouridine synthase 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:1349510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11920160 DKC1 dyskerin pseudouridine synthase 1 gene DOID:0070025 X-linked dyskeratosis congenita ISO RGD:1349510 D RGD:7240710 20180502 OMIM 11920160 DKC1 dyskerin pseudouridine synthase 1 gene DOID:0070025 X-linked dyskeratosis congenita ISO RGD:1349510 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, X-linked PMID:10364516|PMID:10438713|PMID:10583221|PMID:10700698|PMID:11054058|PMID:11379875|PMID:11491307|PMID:11522545|PMID:11641517|PMID:12137939|PMID:12437656|PMID:1361371|PMID:14648217|PMID:15304085|PMID:15842668|PMID:16332973|PMID:18627054|PMID:19003239|PMID:19391112|PMID:19633571|PMID:19734544|PMID:19835419|PMID:19879169|PMID:20008900|PMID:20091372|PMID:20301779|PMID:21601430|PMID:21602826|PMID:21931702|PMID:22058290|PMID:22117216|PMID:22664374|PMID:23279657|PMID:23660516|PMID:23707062|PMID:23946118|PMID:24033266|PMID:24115260|PMID:24914498|PMID:25326635|PMID:25741868|PMID:25992652|PMID:26571381|PMID:27418648|PMID:27622320|PMID:28492532|PMID:29483670|PMID:29625052|PMID:29921932|PMID:3009302|PMID:31027506|PMID:31268371|PMID:31474318|PMID:32126783|PMID:7607282|PMID:9042917|PMID:9590285 11920160 DKC1 dyskerin pseudouridine synthase 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1349510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:21931702|PMID:25741868|PMID:31474318 11920160 DKC1 dyskerin pseudouridine synthase 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1349510 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11920160 DKC1 dyskerin pseudouridine synthase 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1349510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11920160 DKC1 dyskerin pseudouridine synthase 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11920160 DKC1 dyskerin pseudouridine synthase 1 gene DOID:12449 aplastic anemia ISO RGD:1349510 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:p.V105G, p.S121A (human) PMID:26360549|REF_RGD_ID:11251733 11920160 DKC1 dyskerin pseudouridine synthase 1 gene DOID:12849 autistic disorder ISO RGD:1349510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11920160 DKC1 dyskerin pseudouridine synthase 1 gene DOID:13628 favism ISO RGD:1349510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11920160 DKC1 dyskerin pseudouridine synthase 1 gene DOID:14566 disease of cellular proliferation ISO RGD:1615626 D RGD:9068941 20200609 RGD PMID:12522253|REF_RGD_ID:11251731 11920160 DKC1 dyskerin pseudouridine synthase 1 gene DOID:2355 anemia ISO RGD:1615626 D RGD:9068941 20200609 RGD PMID:12522253|REF_RGD_ID:11251731 11920160 DKC1 dyskerin pseudouridine synthase 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1349510 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:10364516|PMID:10583221|PMID:10700698|PMID:11054058|PMID:11379875|PMID:11491307|PMID:11522545|PMID:11641517|PMID:12137939|PMID:14648217|PMID:15304085|PMID:15842668|PMID:16332973|PMID:17576681|PMID:18177777|PMID:19003239|PMID:19391112|PMID:19633571|PMID:19734544|PMID:19835419|PMID:19879169|PMID:20008900|PMID:20091372|PMID:20301779|PMID:21601430|PMID:21602826|PMID:22058290|PMID:22117216|PMID:22664374|PMID:23279657|PMID:23660516|PMID:23707062|PMID:24033266|PMID:24115260|PMID:24914498|PMID:25326635|PMID:25455995|PMID:25741868|PMID:25992652|PMID:26571381|PMID:27418648|PMID:27622320|PMID:28492532|PMID:29625052|PMID:29921932|PMID:31027506|PMID:31268371|PMID:32126783|PMID:7607282|PMID:9536098|PMID:9590285 11920160 DKC1 dyskerin pseudouridine synthase 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1349510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis 11920160 DKC1 dyskerin pseudouridine synthase 1 gene DOID:607 paraplegia ISO RGD:1349510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11920160 DKC1 dyskerin pseudouridine synthase 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1349510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11920160 DKC1 dyskerin pseudouridine synthase 1 gene DOID:614 lymphopenia ISO RGD:1615626 D RGD:9068941 20200609 RGD PMID:12522253|REF_RGD_ID:11251731 11920160 DKC1 dyskerin pseudouridine synthase 1 gene DOID:630 genetic disease ISO RGD:1349510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11920160 DKC1 dyskerin pseudouridine synthase 1 gene DOID:9001272 Hoyeraal Hreidarsson Syndrome ISO RGD:1349510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome PMID:10583221|PMID:12437656|PMID:19734544|PMID:20301779|PMID:28492532|PMID:31027506|PMID:7607282 11920160 DKC1 dyskerin pseudouridine synthase 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1349510 D RGD:9068941 20200609 RGD PMID:18077792|REF_RGD_ID:11251735 11920160 DKC1 dyskerin pseudouridine synthase 1 gene DOID:9002720 Splenomegaly ISO RGD:1349510 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11920179 RGS1 regulator of G protein signaling 1 gene DOID:0080600 COVID-19 ISO RGD:735445 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11920179 RGS1 regulator of G protein signaling 1 gene DOID:1540 parathyroid carcinoma ISO RGD:735445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11920179 RGS1 regulator of G protein signaling 1 gene DOID:3042 allergic contact dermatitis ISO RGD:735445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 11920179 RGS1 regulator of G protein signaling 1 gene DOID:3347 osteosarcoma ISO RGD:735445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14767549 11920179 RGS1 regulator of G protein signaling 1 gene DOID:37 skin disease ISO RGD:735445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11920179 RGS1 regulator of G protein signaling 1 gene DOID:630 genetic disease ISO RGD:735445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11920179 RGS1 regulator of G protein signaling 1 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:735445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:28774260 11920179 RGS1 regulator of G protein signaling 1 gene DOID:9007964 Arsenic Poisoning ISO RGD:735445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11920179 RGS1 regulator of G protein signaling 1 gene DOID:9008331 Tendon Injuries treatment ISO RGD:3561 D RGD:9068941 20200609 RGD PMID:23519232|REF_RGD_ID:10395300 11920179 RGS1 regulator of G protein signaling 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11920219 SPATA45 spermatogenesis associated 45 gene DOID:1540 parathyroid carcinoma ISO RGD:1606701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11920219 SPATA45 spermatogenesis associated 45 gene DOID:630 genetic disease ISO RGD:1606701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11920219 SPATA45 spermatogenesis associated 45 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11920228 ZNF786 zinc finger protein 786 gene DOID:630 genetic disease ISO RGD:1604748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11920236 P2RY4 pyrimidinergic receptor P2Y4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11920236 P2RY4 pyrimidinergic receptor P2Y4 gene DOID:12849 autistic disorder ISO RGD:731552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11920236 P2RY4 pyrimidinergic receptor P2Y4 gene DOID:1826 epilepsy ISO RGD:731552 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11920236 P2RY4 pyrimidinergic receptor P2Y4 gene DOID:630 genetic disease ISO RGD:731552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11920244 NUB1 negative regulator of ubiquitin like proteins 1 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1602112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 11920244 NUB1 negative regulator of ubiquitin like proteins 1 gene DOID:2843 long QT syndrome ISO RGD:1602112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 11920244 NUB1 negative regulator of ubiquitin like proteins 1 gene DOID:630 genetic disease ISO RGD:1602112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11920275 SPAST spastin gene DOID:0050952 spastic ataxia ISO RGD:1318293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:16240363|PMID:25741868|PMID:28492532 11920275 SPAST spastin gene DOID:0090065 familial cold autoinflammatory syndrome 4 ISO RGD:1318293 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 PMID:28492532 11920275 SPAST spastin gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1318293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant PMID:26467025|PMID:28492532 11920275 SPAST spastin gene DOID:0110773 hereditary spastic paraplegia 2 ISO RGD:1318293 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 PMID:25741868 11920275 SPAST spastin gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1318293 D RGD:7240710 20180130 OMIM 11920275 SPAST spastin gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1318293 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial spastic paraplegia autosomal dominant 2 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 | ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of PMID:10493830|PMID:10610178|PMID:10699187|PMID:10980739|PMID:11015453|PMID:11039577|PMID:11087788|PMID:11134375|PMID:11309678|PMID:11359470|PMID:11704932|PMID:11809724|PMID:11843700|PMID:11985387|PMID:12023066|PMID:12124993|PMID:12161613|PMID:12163196|PMID:12202986|PMID:12471215|PMID:12552568|PMID:12736085|PMID:12939659|PMID:14732620|PMID:15159500|PMID:15210521|PMID:15248095|PMID:15326248|PMID:15482961|PMID:15637712|PMID:15667412|PMID:15716377|PMID:15841487|PMID:16009377|PMID:16009769|PMID:16055926|PMID:16199547|PMID:16240363|PMID:16476945|PMID:16682546|PMID:16684598|PMID:16788734|PMID:16832076|PMID:17035675|PMID:17098887|PMID:17100993|PMID:17345589|PMID:17560499|PMID:17576681|PMID:17594340|PMID:17597328|PMID:17598600|PMID:17895902|PMID:17916079|PMID:17957230|PMID:17971434|PMID:18202664|PMID:18410514|PMID:18608088|PMID:18613979|PMID:18664244|PMID:18701882|PMID:18975132|PMID:19423133|PMID:19438933|PMID:19763152|PMID:19875132|PMID:20214791|PMID:20301339|PMID:20307669|PMID:20430936|PMID:20491894|PMID:20550563|PMID:20559269|PMID:20562464|PMID:20665701|PMID:20718791|PMID:20843780|PMID:20932283|PMID:21546041|PMID:21659953|PMID:21834905|PMID:21888932|PMID:22203332|PMID:22406018|PMID:22552817|PMID:22817815|PMID:22960362|PMID:23252998|PMID:23279441|PMID:23400676|PMID:23833562|PMID:24033003|PMID:24033266|PMID:24215330|PMID:24381312|PMID:24451228|PMID:24478365|PMID:24690193|PMID:24731568|PMID:24824479|PMID:25045380|PMID:25065914|PMID:25326635|PMID:25326637|PMID:25341883|PMID:25421405|PMID:25454648|PMID:25525159|PMID:25658484|PMID:25741868|PMID:25741869|PMID:26086985|PMID:26094131|PMID:26165777|PMID:26208798|PMID:26374131|PMID:26467025|PMID:26600529|PMID:26671083|PMID:27084228|PMID:27108959|PMID:27260292|PMID:27276562|PMID:27334366|PMID:27688599|PMID:27871443|PMID:27942873|PMID:27957547|PMID:28160950|PMID:28492532|PMID:28495799|PMID:28572275|PMID:29112992|PMID:29246610|PMID:29389947|PMID:29421991|PMID:29691679|PMID:29761117|PMID:29908077|PMID:29934652|PMID:29980238|PMID:30476002|PMID:30520996|PMID:30564185|PMID:30780198|PMID:31134136|PMID:31157359|PMID:31227335|PMID:31407473|PMID:31594988|PMID:31630374|PMID:31751864|PMID:31851166|PMID:32989326|PMID:33098801|PMID:33624935|PMID:34008892|PMID:9536098|PMID:9695811 11920275 SPAST spastin gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1318293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial spastic paraplegia autosomal dominant 2 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 | ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of PMID:10493830|PMID:10610178|PMID:10699187|PMID:10980739|PMID:11015453|PMID:11039577|PMID:11087788|PMID:11134375|PMID:11309678|PMID:11359470|PMID:11704932|PMID:11809724|PMID:11843700|PMID:11985387|PMID:12023066|PMID:12124993|PMID:12161613|PMID:12163196|PMID:12202986|PMID:12471215|PMID:12552568|PMID:12736085|PMID:12939659|PMID:14732620|PMID:15095758|PMID:15159500|PMID:15210521|PMID:15248095|PMID:15326248|PMID:15482961|PMID:15637712|PMID:15667412|PMID:15716377|PMID:15841487|PMID:16009377|PMID:16009769|PMID:16055926|PMID:16199547|PMID:16240363|PMID:16476945|PMID:16682546|PMID:16684598|PMID:16788734|PMID:16832076|PMID:17035675|PMID:17098887|PMID:17100993|PMID:17345589|PMID:17576681|PMID:17594340|PMID:17597328|PMID:17598599|PMID:17598600|PMID:17690846|PMID:17895902|PMID:17916079|PMID:17957230|PMID:17971434|PMID:18202664|PMID:18608088|PMID:18613979|PMID:18664244|PMID:18701882|PMID:18975132|PMID:19289482|PMID:19423133|PMID:19438933|PMID:19494379|PMID:19763152|PMID:19875132|PMID:20214791|PMID:20301339|PMID:20307669|PMID:20430936|PMID:20491894|PMID:20550563|PMID:20559269|PMID:20562464|PMID:20665701|PMID:20718791|PMID:20843780|PMID:20932283|PMID:21546041|PMID:21659953|PMID:21834905|PMID:21888932|PMID:22203332|PMID:22406018|PMID:22552817|PMID:22817815|PMID:22960362|PMID:23238845|PMID:23252998|PMID:23264559|PMID:23279441|PMID:23400676|PMID:23833562|PMID:24033003|PMID:24033266|PMID:24215330|PMID:24381312|PMID:24417445|PMID:24451228|PMID:24478365|PMID:24648003|PMID:24690193|PMID:24731568|PMID:24824479|PMID:25045380|PMID:25065914|PMID:25326635|PMID:25326637|PMID:25341883|PMID:25421405|PMID:25454648|PMID:25525159|PMID:25658484|PMID:25741868|PMID:25741869|PMID:26086985|PMID:26094131|PMID:26165777|PMID:26208798|PMID:26374131|PMID:26467025|PMID:26600529|PMID:26671083|PMID:27077743|PMID:27084228|PMID:27108959|PMID:27260292|PMID:27276562|PMID:27334366|PMID:27688599|PMID:27871443|PMID:27942873|PMID:27957547|PMID:28160950|PMID:28492532|PMID:28495799|PMID:28572275|PMID:29112992|PMID:29246610|PMID:29389947|PMID:29421991|PMID:29691679|PMID:29761117|PMID:29907907|PMID:29908077|PMID:29934652|PMID:29980238|PMID:30006150|PMID:30375765|PMID:30476002|PMID:30489674|PMID:30520996|PMID:30528841|PMID:30564185|PMID:30747022|PMID:30778698|PMID:31134136|PMID:31157359|PMID:31227335|PMID:31407473|PMID:31594988|PMID:31630374|PMID:31692161|PMID:31751864|PMID:31851166|PMID:32092540|PMID:32522921|PMID:32650125|PMID:32655478|PMID:32908740|PMID:32989326|PMID:33098801|PMID:33446253|PMID:33624935|PMID:33638609|PMID:34008892|PMID:34114234|PMID:34507445|PMID:34753439|PMID:35303589|PMID:9536098 11920275 SPAST spastin gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1318293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial spastic paraplegia autosomal dominant 2 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 | ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of PMID:10493830|PMID:10610178|PMID:10699187|PMID:10980739|PMID:11015453|PMID:11039577|PMID:11087788|PMID:11134375|PMID:11309678|PMID:11359470|PMID:11704932|PMID:11809724|PMID:11843700|PMID:11985387|PMID:12023066|PMID:12124993|PMID:12161613|PMID:12163196|PMID:12202986|PMID:12471215|PMID:12552568|PMID:12736085|PMID:12939659|PMID:14732620|PMID:15095758|PMID:15159500|PMID:15210521|PMID:15248095|PMID:15326248|PMID:15482961|PMID:15637712|PMID:15667412|PMID:15716377|PMID:15841487|PMID:16009377|PMID:16009769|PMID:16055926|PMID:16199547|PMID:16240363|PMID:16476945|PMID:16682546|PMID:16684598|PMID:16788734|PMID:16832076|PMID:17035675|PMID:17098887|PMID:17100993|PMID:17345589|PMID:17560499|PMID:17576681|PMID:17594340|PMID:17597328|PMID:17598599|PMID:17598600|PMID:17690846|PMID:17895902|PMID:17916079|PMID:17957230|PMID:17971434|PMID:18202664|PMID:18608088|PMID:18613979|PMID:18664244|PMID:18701882|PMID:18975132|PMID:19289482|PMID:19423133|PMID:19438933|PMID:19494379|PMID:19763152|PMID:19875132|PMID:20214791|PMID:20301339|PMID:20307669|PMID:20430936|PMID:20491894|PMID:20550563|PMID:20559269|PMID:20562464|PMID:20665701|PMID:20718791|PMID:20843780|PMID:20932283|PMID:21546041|PMID:21659953|PMID:21834905|PMID:21888932|PMID:21896784|PMID:22203332|PMID:22406018|PMID:22552817|PMID:22817815|PMID:22960362|PMID:23238845|PMID:23252998|PMID:23264559|PMID:23279441|PMID:23400676|PMID:23833562|PMID:24033003|PMID:24033266|PMID:24215330|PMID:24381312|PMID:24417445|PMID:24451228|PMID:24478365|PMID:24648003|PMID:24690193|PMID:24731568|PMID:24824479|PMID:25045380|PMID:25065914|PMID:25326635|PMID:25326637|PMID:25341883|PMID:25421405|PMID:25454648|PMID:25525159|PMID:25640679|PMID:25658484|PMID:25741868|PMID:25741869|PMID:26086985|PMID:26094131|PMID:26165777|PMID:26208798|PMID:26374131|PMID:26467025|PMID:26600529|PMID:26671083|PMID:27077743|PMID:27084228|PMID:27108959|PMID:27260292|PMID:27276562|PMID:27334366|PMID:27688599|PMID:27871443|PMID:27942873|PMID:27957547|PMID:28160950|PMID:28492532|PMID:28495799|PMID:28572275|PMID:29112992|PMID:29246610|PMID:29389947|PMID:29421991|PMID:29691679|PMID:29761117|PMID:29907907|PMID:29908077|PMID:29934652|PMID:29980238|PMID:30006150|PMID:30375765|PMID:30476002|PMID:30489674|PMID:30520996|PMID:30528841|PMID:30564185|PMID:30747022|PMID:30778698|PMID:31134136|PMID:31157359|PMID:31227335|PMID:31407473|PMID:31594988|PMID:31630374|PMID:31692161|PMID:31751864|PMID:31851166|PMID:32092540|PMID:32522921|PMID:32650125|PMID:32655478|PMID:32908740|PMID:32989326|PMID:33098801|PMID:33446253|PMID:33624935|PMID:33638609|PMID:34008892|PMID:34114234|PMID:34507445|PMID:34753439|PMID:35303589|PMID:9536098 11920275 SPAST spastin gene DOID:1826 epilepsy ISO RGD:1318293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:16832076|PMID:20932283|PMID:25741868|PMID:26467025|PMID:28492532 11920275 SPAST spastin gene DOID:1969 cerebral palsy ISO RGD:1318293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:11015453|PMID:11809724|PMID:15248095|PMID:15326248|PMID:16240363|PMID:16832076|PMID:17594340|PMID:17895902|PMID:17916079|PMID:17971434|PMID:18608088|PMID:18613979|PMID:18701882|PMID:18975132|PMID:19875132|PMID:20214791|PMID:20301339|PMID:20430936|PMID:20562464|PMID:20665701|PMID:20718791|PMID:22817815|PMID:23252998|PMID:24215330|PMID:25326637|PMID:25341883|PMID:25741868|PMID:26467025|PMID:27084228|PMID:27334366|PMID:28492532|PMID:28572275|PMID:29908077|PMID:30564185|PMID:31134136|PMID:34008892 11920275 SPAST spastin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1318293 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia PMID:10610178|PMID:10699187|PMID:11015453|PMID:11039577|PMID:11087788|PMID:11309678|PMID:11809724|PMID:11843700|PMID:12124993|PMID:12161613|PMID:12552568|PMID:15159500|PMID:15210521|PMID:15248095|PMID:15326248|PMID:15482961|PMID:15716377|PMID:15841487|PMID:16009769|PMID:16055926|PMID:16199547|PMID:16240363|PMID:16476945|PMID:16682546|PMID:16832076|PMID:17576681|PMID:17594340|PMID:17597328|PMID:17598600|PMID:17690846|PMID:17895902|PMID:17916079|PMID:17957230|PMID:17971434|PMID:18202664|PMID:18608088|PMID:18613979|PMID:18701882|PMID:19289482|PMID:19423133|PMID:19438933|PMID:19875132|PMID:20214791|PMID:20301339|PMID:20430936|PMID:20562464|PMID:20665701|PMID:20718791|PMID:20932283|PMID:21834905|PMID:21888932|PMID:22552817|PMID:22817815|PMID:22960362|PMID:23252998|PMID:23264559|PMID:24033003|PMID:24033266|PMID:24381312|PMID:24451228|PMID:24857849|PMID:25045380|PMID:25326637|PMID:25341883|PMID:25421405|PMID:25454648|PMID:25525159|PMID:25658484|PMID:25741868|PMID:25741869|PMID:26208798|PMID:26374131|PMID:26467025|PMID:26600529|PMID:26671083|PMID:27084228|PMID:27108959|PMID:27229699|PMID:27260292|PMID:27276562|PMID:27334366|PMID:27688599|PMID:27871443|PMID:27957547|PMID:28492532|PMID:28572275|PMID:28832565|PMID:29112992|PMID:29246610|PMID:29421991|PMID:29761117|PMID:29934652|PMID:29980238|PMID:30006150|PMID:30476002|PMID:30528841|PMID:30564185|PMID:30778698|PMID:31157359|PMID:31227335|PMID:31594988|PMID:31630374|PMID:31751864|PMID:31851166|PMID:32092540|PMID:33624935|PMID:34008892|PMID:34753439|PMID:9536098 11920275 SPAST spastin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1318293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:10610178|PMID:10699187|PMID:11015453|PMID:11039577|PMID:11087788|PMID:11309678|PMID:11809724|PMID:11843700|PMID:12124993|PMID:12161613|PMID:12552568|PMID:15095758|PMID:15159500|PMID:15210521|PMID:15248095|PMID:15326248|PMID:15482961|PMID:15716377|PMID:15841487|PMID:16009769|PMID:16055926|PMID:16199547|PMID:16240363|PMID:16476945|PMID:16682546|PMID:16832076|PMID:17576681|PMID:17594340|PMID:17597328|PMID:17598600|PMID:17690846|PMID:17895902|PMID:17916079|PMID:17957230|PMID:17971434|PMID:18202664|PMID:18608088|PMID:18613979|PMID:18701882|PMID:19289482|PMID:19423133|PMID:19438933|PMID:19875132|PMID:20214791|PMID:20301339|PMID:20430936|PMID:20559269|PMID:20562464|PMID:20665701|PMID:20718791|PMID:20932283|PMID:21834905|PMID:21888932|PMID:22552817|PMID:22817815|PMID:22960362|PMID:23252998|PMID:23264559|PMID:23400676|PMID:24033003|PMID:24033266|PMID:24381312|PMID:24451228|PMID:24857849|PMID:25045380|PMID:25326637|PMID:25341883|PMID:25421405|PMID:25454648|PMID:25525159|PMID:25658484|PMID:25741868|PMID:25741869|PMID:26208798|PMID:26374131|PMID:26467025|PMID:26600529|PMID:26671083|PMID:27084228|PMID:27108959|PMID:27229699|PMID:27260292|PMID:27276562|PMID:27334366|PMID:27688599|PMID:27871443|PMID:27957547|PMID:28492532|PMID:28572275|PMID:28832565|PMID:29112992|PMID:29246610|PMID:29421991|PMID:29691679|PMID:29761117|PMID:29934652|PMID:29980238|PMID:30006150|PMID:30476002|PMID:30528841|PMID:30564185|PMID:30778698|PMID:31157359|PMID:31227335|PMID:31594988|PMID:31630374|PMID:31751864|PMID:31851166|PMID:32092540|PMID:33624935|PMID:34008892|PMID:34753439|PMID:9536098 11920275 SPAST spastin gene DOID:607 paraplegia ISO RGD:1318293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:16240363|PMID:17100993|PMID:20718791|PMID:20932283|PMID:23833562|PMID:24824479|PMID:25341883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32581362 11920275 SPAST spastin gene DOID:630 genetic disease ISO RGD:1318293 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10610178|PMID:10699187|PMID:11309678|PMID:11809724|PMID:12161613|PMID:12202986|PMID:14732620|PMID:15095758|PMID:15716377|PMID:16009769|PMID:16055926|PMID:16240363|PMID:16682546|PMID:18202664|PMID:18701882|PMID:19875132|PMID:20562464|PMID:20932283|PMID:21888932|PMID:22552817|PMID:22960362|PMID:25045380|PMID:25741868|PMID:25741869|PMID:26208798|PMID:26467025|PMID:26600529|PMID:27084228|PMID:27260292|PMID:27334366|PMID:27871443|PMID:28492532|PMID:29112992|PMID:29421991|PMID:29761117|PMID:29934652|PMID:29980238|PMID:30006150|PMID:30476002|PMID:30564185|PMID:31227335|PMID:31594988|PMID:31630374|PMID:33624935|PMID:34753439 11920275 SPAST spastin gene DOID:9002598 Spastic Paraparesis ISO RGD:1318293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraparesis PMID:10610178|PMID:11309678|PMID:12161613|PMID:15716377|PMID:16009769|PMID:16055926|PMID:16682546|PMID:17594340|PMID:17957230|PMID:18701882|PMID:19438933|PMID:20562464|PMID:20718791|PMID:25658484|PMID:25741868|PMID:26208798|PMID:27334366|PMID:28492532 11920275 SPAST spastin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318293 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11920275 SPAST spastin gene DOID:9007428 Muscle Spasticity ISO RGD:1318293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spasticity PMID:10699187|PMID:11809724|PMID:11843700|PMID:15841487|PMID:20214791|PMID:20718791|PMID:20932283|PMID:22960362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29761117|PMID:29934652 11920275 SPAST spastin gene DOID:9007892 Tics ISO RGD:1318293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Motor tics | ClinVar Annotator: match by term: Tics PMID:10493830|PMID:11039577|PMID:16788734|PMID:17100993|PMID:17971434|PMID:25741868|PMID:28492532|PMID:32989326 11920275 SPAST spastin gene DOID:9008410 Autoinflammation with Infantile Enterocolitis ISO RGD:1318293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis PMID:28492532 11920294 SCP2 sterol carrier protein 2 gene DOID:10003 sensorineural hearing loss ISO RGD:733061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868|PMID:28492532|PMID:33713422 11920294 SCP2 sterol carrier protein 2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:733061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy variant PMID:25741868 11920294 SCP2 sterol carrier protein 2 gene DOID:1389 polyneuropathy ISO RGD:733061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16685654 11920294 SCP2 sterol carrier protein 2 gene DOID:543 dystonia ISO RGD:733061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16685654 11920294 SCP2 sterol carrier protein 2 gene DOID:630 genetic disease ISO RGD:733061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11920294 SCP2 sterol carrier protein 2 gene DOID:9002704 Leukoencephalopathies ISO RGD:733061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16685654 11920294 SCP2 sterol carrier protein 2 gene DOID:9004065 Leukoencephalopathy with Dystonia and Motor Neuropathy ISO RGD:733061 D RGD:7240710 20180130 OMIM 11920294 SCP2 sterol carrier protein 2 gene DOID:9004065 Leukoencephalopathy with Dystonia and Motor Neuropathy ISO RGD:733061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sterol carrier protein 2 deficiency PMID:16199547|PMID:16685654|PMID:25741868|PMID:26497993|PMID:28492532|PMID:33098801 11920294 SCP2 sterol carrier protein 2 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:3642 D RGD:9068941 20200609 RGD PMID:7628371|REF_RGD_ID:9850252 11920294 SCP2 sterol carrier protein 2 gene DOID:905 Zellweger syndrome ISO RGD:733061 D RGD:9068941 20200609 RGD PMID:3555624|REF_RGD_ID:13782196 11920322 DTNA dystrobrevin alpha gene DOID:0050700 cardiomyopathy ISO RGD:1343196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:28492532 11920322 DTNA dystrobrevin alpha gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1343196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 11920322 DTNA dystrobrevin alpha gene DOID:1059 intellectual disability ISO RGD:1343196 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11920322 DTNA dystrobrevin alpha gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1343196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:30086531|PMID:31568572 11920322 DTNA dystrobrevin alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:1343196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 11920322 DTNA dystrobrevin alpha gene DOID:630 genetic disease ISO RGD:1343196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11920322 DTNA dystrobrevin alpha gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1343196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:21520333|PMID:25741868|PMID:28492532 11920322 DTNA dystrobrevin alpha gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1343196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532 11920322 DTNA dystrobrevin alpha gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:1343196 D RGD:7240710 20180425 OMIM 11920322 DTNA dystrobrevin alpha gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:1343196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:11238270|PMID:16199547|PMID:17576681|PMID:21520333|PMID:23861362|PMID:24033266|PMID:25305078|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29118297|PMID:29247119|PMID:30086531|PMID:31568572|PMID:32746448|PMID:33500567|PMID:33789662|PMID:35148685|PMID:9536098 11920322 DTNA dystrobrevin alpha gene DOID:9849 Meniere's disease ISO RGD:1343196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:25305078|PMID:25741868|PMID:28492532 11920415 RBPMS2 RNA binding protein, mRNA processing factor 2 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1351025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11920415 RBPMS2 RNA binding protein, mRNA processing factor 2 gene DOID:2717 Bloom syndrome ISO RGD:1351025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11920415 RBPMS2 RNA binding protein, mRNA processing factor 2 gene DOID:630 genetic disease ISO RGD:1351025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11920415 RBPMS2 RNA binding protein, mRNA processing factor 2 gene DOID:9256 colorectal cancer ISO RGD:1351025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11920428 KDSR 3-ketodihydrosphingosine reductase gene DOID:0050873 follicular lymphoma ISO RGD:1317161 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25526675 11920428 KDSR 3-ketodihydrosphingosine reductase gene DOID:0050873 follicular lymphoma ISO RGD:1317161 D RGD:9068941 20200609 RGD PMID:8417785|REF_RGD_ID:1598985 11920428 KDSR 3-ketodihydrosphingosine reductase gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1317161 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11920428 KDSR 3-ketodihydrosphingosine reductase gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1317161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 11920428 KDSR 3-ketodihydrosphingosine reductase gene DOID:0080250 erythrokeratodermia variabilis et progressiva 4 ISO RGD:1317161 D RGD:7240710 20190315 OMIM 11920428 KDSR 3-ketodihydrosphingosine reductase gene DOID:0080250 erythrokeratodermia variabilis et progressiva 4 ISO RGD:1317161 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 4 PMID:25741868|PMID:28492532|PMID:28575652 11920428 KDSR 3-ketodihydrosphingosine reductase gene DOID:630 genetic disease ISO RGD:1317161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11920442 CTDSPL CTD small phosphatase like gene DOID:0050451 Brugada syndrome ISO RGD:1345284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 11920442 CTDSPL CTD small phosphatase like gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345284 D RGD:9068941 20220908 RGD mRNA:decreased expression:lung (human) PMID:22491060|REF_RGD_ID:153350086 11920442 CTDSPL CTD small phosphatase like gene DOID:630 genetic disease ISO RGD:1345284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11920442 CTDSPL CTD small phosphatase like gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1345284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 11920459 LOC103782660 keratin-associated protein 4-5 gene DOID:630 genetic disease ISO RGD:1351130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11920517 EVA1C eva-1 homolog C gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1316841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11920517 EVA1C eva-1 homolog C gene DOID:0060898 Parkinson's disease 20 ISO RGD:1316841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 11920517 EVA1C eva-1 homolog C gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1316841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11920517 EVA1C eva-1 homolog C gene DOID:630 genetic disease ISO RGD:1316841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11920517 EVA1C eva-1 homolog C gene DOID:9005698 ZTTK Syndrome ISO RGD:1316841 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 11920537 SASS6 SAS-6 centriolar assembly protein gene DOID:0070279 primary autosomal recessive microcephaly 14 ISO RGD:1603551 D RGD:7240710 20180130 OMIM 11920537 SASS6 SAS-6 centriolar assembly protein gene DOID:0070279 primary autosomal recessive microcephaly 14 ISO RGD:1603551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 14, primary, autosomal recessive PMID:24951542|PMID:25741868|PMID:30639237 11920537 SASS6 SAS-6 centriolar assembly protein gene DOID:630 genetic disease ISO RGD:1603551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21273447|PMID:25741868 11920537 SASS6 SAS-6 centriolar assembly protein gene DOID:9269 maple syrup urine disease ISO RGD:1603551 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 11920566 PLEKHF1 pleckstrin homology and FYVE domain containing 1 gene DOID:630 genetic disease ISO RGD:1321508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11920566 PLEKHF1 pleckstrin homology and FYVE domain containing 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1321508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21397856 11920575 ATP8B1 ATPase phospholipid transporting 8B1 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1318284 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 11920575 ATP8B1 ATPase phospholipid transporting 8B1 gene DOID:0070221 progressive familial intrahepatic cholestasis ISO RGD:1318284 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis PMID:14988830|PMID:15239083|PMID:19731236|PMID:19918981|PMID:20232290|PMID:25741868|PMID:26382629|PMID:26858187|PMID:26879107|PMID:31450232|PMID:33437900|PMID:33666275|PMID:34543749|PMID:5807632|PMID:9500542|PMID:9918928 11920575 ATP8B1 ATPase phospholipid transporting 8B1 gene DOID:0070222 progressive familial intrahepatic cholestasis 2 ISO RGD:1318284 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2 PMID:15239083|PMID:15888793|PMID:19731236|PMID:20981092|PMID:22995991|PMID:25741868|PMID:28492532 11920575 ATP8B1 ATPase phospholipid transporting 8B1 gene DOID:0070226 progressive familial intrahepatic cholestasis 1 ISO RGD:1318284 D RGD:7240710 20180130 OMIM 11920575 ATP8B1 ATPase phospholipid transporting 8B1 gene DOID:0070226 progressive familial intrahepatic cholestasis 1 ISO RGD:1318284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Byler disease | ClinVar Annotator: match by term: Byler's disease PMID:11093741|PMID:12149765|PMID:14976163|PMID:14988830|PMID:15239083|PMID:15317749|PMID:15657619|PMID:15888793|PMID:16374853|PMID:1774530|PMID:18937870|PMID:19731236|PMID:19918981|PMID:20038848|PMID:20232290|PMID:20852622|PMID:20981092|PMID:22525741|PMID:22995991|PMID:24033266|PMID:24260417|PMID:25741868|PMID:26126923|PMID:26594346|PMID:26756876|PMID:26879107|PMID:27050426|PMID:28045770|PMID:28492532|PMID:28733223|PMID:28776642|PMID:28924228|PMID:29238877|PMID:30366773|PMID:32650689|PMID:33223529|PMID:33666275|PMID:5762004|PMID:5807632|PMID:9500542|PMID:9918928 11920575 ATP8B1 ATPase phospholipid transporting 8B1 gene DOID:0070227 intrahepatic cholestasis of pregnancy ISO RGD:1318284 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11920575 ATP8B1 ATPase phospholipid transporting 8B1 gene DOID:0070228 intrahepatic cholestasis of pregnancy 1 ISO RGD:1318284 D RGD:7240710 20180912 OMIM 11920575 ATP8B1 ATPase phospholipid transporting 8B1 gene DOID:0070228 intrahepatic cholestasis of pregnancy 1 ISO RGD:1318284 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CHOLESTASIS, PREGNANCY-RELATED, 1 | ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 1 PMID:15239083|PMID:15657619|PMID:15888793|PMID:19731236|PMID:20981092|PMID:22995991|PMID:24033266|PMID:24260417|PMID:25741868|PMID:26126923|PMID:28492532|PMID:28924228|PMID:29238877|PMID:32650689|PMID:33223529 11920575 ATP8B1 ATPase phospholipid transporting 8B1 gene DOID:0070231 benign recurrent intrahepatic cholestasis 1 ISO RGD:1318284 D RGD:7240710 20180912 OMIM 11920575 ATP8B1 ATPase phospholipid transporting 8B1 gene DOID:0070231 benign recurrent intrahepatic cholestasis 1 ISO RGD:1318284 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Summerskill syndrome PMID:15239083|PMID:15657619|PMID:15888793|PMID:19731236|PMID:19918981|PMID:20981092|PMID:22995991|PMID:24033266|PMID:24260417|PMID:25741868|PMID:26126923|PMID:26879107|PMID:28492532|PMID:28924228|PMID:29238877|PMID:32650689|PMID:33666275|PMID:5807632|PMID:7894490|PMID:9500542|PMID:9918928 11920575 ATP8B1 ATPase phospholipid transporting 8B1 gene DOID:0111988 immunodeficiency 12 ISO RGD:1318284 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 11920575 ATP8B1 ATPase phospholipid transporting 8B1 gene DOID:1852 intrahepatic cholestasis ISO RGD:1318284 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Progressive intrahepatic cholestasis PMID:14988830|PMID:15239083|PMID:19731236|PMID:19918981|PMID:20232290|PMID:25741868|PMID:26879107|PMID:33666275|PMID:5807632|PMID:9500542|PMID:9918928 11920575 ATP8B1 ATPase phospholipid transporting 8B1 gene DOID:1852 intrahepatic cholestasis susceptibility ISO RGD:1318284 D RGD:9068941 20200609 RGD DNA:mutation PMID:9500542|REF_RGD_ID:1599397 11920575 ATP8B1 ATPase phospholipid transporting 8B1 gene DOID:630 genetic disease ISO RGD:1318284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14988830|PMID:15239083|PMID:20232290|PMID:25741868|PMID:28492532|PMID:33666275 11920607 HORMAD1 HORMA domain containing 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1346134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11920607 HORMAD1 HORMA domain containing 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1346134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11920607 HORMAD1 HORMA domain containing 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1346134 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11920607 HORMAD1 HORMA domain containing 1 gene DOID:12336 male infertility ISO RGD:1346134 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Male infertility PMID:25741868 11920607 HORMAD1 HORMA domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1346134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11920607 HORMAD1 HORMA domain containing 1 gene DOID:5812 MHC class II deficiency ISO RGD:1346134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11920607 HORMAD1 HORMA domain containing 1 gene DOID:630 genetic disease ISO RGD:1346134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11920607 HORMAD1 HORMA domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11920626 SPRY4 sprouty RTK signaling antagonist 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313286 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11920626 SPRY4 sprouty RTK signaling antagonist 4 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1313286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 11920626 SPRY4 sprouty RTK signaling antagonist 4 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1313286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11920626 SPRY4 sprouty RTK signaling antagonist 4 gene DOID:0090079 hypogonadotropic hypogonadism 17 with or without anosmia ISO RGD:1313286 D RGD:7240710 20180130 OMIM 11920626 SPRY4 sprouty RTK signaling antagonist 4 gene DOID:0090079 hypogonadotropic hypogonadism 17 with or without anosmia ISO RGD:1313286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 17 with or without anosmia PMID:23643382|PMID:24033266|PMID:28492532|PMID:32870266 11920626 SPRY4 sprouty RTK signaling antagonist 4 gene DOID:13938 amenorrhea ISO RGD:1313286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:23643382|PMID:24033266|PMID:28492532|PMID:32870266 11920626 SPRY4 sprouty RTK signaling antagonist 4 gene DOID:1921 Klinefelter syndrome ISO RGD:1313286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 11920626 SPRY4 sprouty RTK signaling antagonist 4 gene DOID:1923 disorder of sexual development ISO RGD:1313286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 11920626 SPRY4 sprouty RTK signaling antagonist 4 gene DOID:630 genetic disease ISO RGD:1313286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11920626 SPRY4 sprouty RTK signaling antagonist 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11920626 SPRY4 sprouty RTK signaling antagonist 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313286 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11920626 SPRY4 sprouty RTK signaling antagonist 4 gene DOID:9119 acute myeloid leukemia ISO RGD:1313286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25822087 11920656 CNKSR1 connector enhancer of kinase suppressor of Ras 1 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1323565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 11920656 CNKSR1 connector enhancer of kinase suppressor of Ras 1 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1323565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 11920656 CNKSR1 connector enhancer of kinase suppressor of Ras 1 gene DOID:0110839 Usher syndrome type 2C ISO RGD:1323565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2C PMID:25741868 11920656 CNKSR1 connector enhancer of kinase suppressor of Ras 1 gene DOID:1059 intellectual disability ISO RGD:1323565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11920656 CNKSR1 connector enhancer of kinase suppressor of Ras 1 gene DOID:630 genetic disease ISO RGD:1323565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11920656 CNKSR1 connector enhancer of kinase suppressor of Ras 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323565 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11920681 IPO9 importin 9 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1321497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11920681 IPO9 importin 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1321497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11920681 IPO9 importin 9 gene DOID:630 genetic disease ISO RGD:1321497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11920681 IPO9 importin 9 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1321497 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11920681 IPO9 importin 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11920715 POLR2A RNA polymerase II subunit A gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1352013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11920715 POLR2A RNA polymerase II subunit A gene DOID:0080893 Bainbridge-Ropers syndrome ISO RGD:1352013 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bainbridge-Ropers syndrome PMID:25741868 11920715 POLR2A RNA polymerase II subunit A gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1352013 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11920715 POLR2A RNA polymerase II subunit A gene DOID:1059 intellectual disability ISO RGD:1352013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11920715 POLR2A RNA polymerase II subunit A gene DOID:12177 common variable immunodeficiency ISO RGD:1352013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11920715 POLR2A RNA polymerase II subunit A gene DOID:12858 Huntington's disease ISO RGD:1557071 D RGD:9068941 20200609 RGD PMID:20089533|REF_RGD_ID:10043799 11920715 POLR2A RNA polymerase II subunit A gene DOID:2729 dyskeratosis congenita ISO RGD:1352013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11920715 POLR2A RNA polymerase II subunit A gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1352013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11920715 POLR2A RNA polymerase II subunit A gene DOID:3320 Tay-Sachs disease ISO RGD:1352013 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:25741868 11920715 POLR2A RNA polymerase II subunit A gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1352013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 11920715 POLR2A RNA polymerase II subunit A gene DOID:630 genetic disease ISO RGD:1352013 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19344873|PMID:25741868|PMID:31353023 11920715 POLR2A RNA polymerase II subunit A gene DOID:9000637 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES ISO RGD:1352013 D RGD:7240710 20191030 OMIM 11920715 POLR2A RNA polymerase II subunit A gene DOID:9000637 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES ISO RGD:1352013 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities PMID:24033266|PMID:25741868|PMID:31353023|PMID:33665635 11920715 POLR2A RNA polymerase II subunit A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:24033266|PMID:25741868 11920715 POLR2A RNA polymerase II subunit A gene DOID:9005600 Infarction ISO RGD:1587326 D RGD:9068941 20200609 RGD PMID:22535878|REF_RGD_ID:9681722 11920715 POLR2A RNA polymerase II subunit A gene DOID:9008582 Developmental Disease ISO RGD:1352013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11920747 MPZL2 myelin protein zero like 2 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1316244 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11920747 MPZL2 myelin protein zero like 2 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1316244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11920747 MPZL2 myelin protein zero like 2 gene DOID:0080690 RASopathy ISO RGD:1316244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11920747 MPZL2 myelin protein zero like 2 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1316244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 11920747 MPZL2 myelin protein zero like 2 gene DOID:0110651 long QT syndrome 10 ISO RGD:1316244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11920747 MPZL2 myelin protein zero like 2 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1316244 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11920747 MPZL2 myelin protein zero like 2 gene DOID:0111640 autosomal recessive nonsyndromic deafness 111 ISO RGD:1316244 D RGD:7240710 20190315 OMIM 11920747 MPZL2 myelin protein zero like 2 gene DOID:0111640 autosomal recessive nonsyndromic deafness 111 ISO RGD:1316244 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 111 PMID:25741868|PMID:28492532|PMID:29961571|PMID:29982980|PMID:30311386|PMID:35802133|PMID:36633841 11920747 MPZL2 myelin protein zero like 2 gene DOID:0111971 immunodeficiency 18 ISO RGD:1316244 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11920747 MPZL2 myelin protein zero like 2 gene DOID:0111972 immunodeficiency 19 ISO RGD:1316244 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11920747 MPZL2 myelin protein zero like 2 gene DOID:0111973 immunodeficiency 17 ISO RGD:1316244 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11920747 MPZL2 myelin protein zero like 2 gene DOID:1059 intellectual disability ISO RGD:1316244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11920747 MPZL2 myelin protein zero like 2 gene DOID:630 genetic disease ISO RGD:1316244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11920747 MPZL2 myelin protein zero like 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1316244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11920747 MPZL2 myelin protein zero like 2 gene DOID:9007661 Dwarfism ISO RGD:1316244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11920772 TBX18 T-box transcription factor 18 gene DOID:0080205 CAKUT ISO RGD:1350500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:26235987|PMID:30143558 11920772 TBX18 T-box transcription factor 18 gene DOID:0080207 CAKUT2 ISO RGD:1350500 D RGD:7240710 20180130 OMIM 11920772 TBX18 T-box transcription factor 18 gene DOID:0080207 CAKUT2 ISO RGD:1350500 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction PMID:25741868|PMID:25741890|PMID:26235987|PMID:28492532|PMID:30143558 11920772 TBX18 T-box transcription factor 18 gene DOID:630 genetic disease ISO RGD:1350500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11920772 TBX18 T-box transcription factor 18 gene DOID:784 chronic kidney disease ISO RGD:1350500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 11920787 C3H3orf33 chromosome 3 C3orf33 homolog gene DOID:630 genetic disease ISO RGD:1605242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11920810 TEX101 testis expressed 101 gene DOID:5419 schizophrenia ISO RGD:1354475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11920810 TEX101 testis expressed 101 gene DOID:630 genetic disease ISO RGD:1354475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11920831 PFKM phosphofructokinase, muscle gene DOID:0081241 peroxisome biogenesis disorder 3B ISO RGD:68621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisomal biogenesis disorder 3b PMID:9792857 11920831 PFKM phosphofructokinase, muscle gene DOID:11721 glycogen storage disease VII ISO RGD:68621 D RGD:7240710 20180130 OMIM 11920831 PFKM phosphofructokinase, muscle gene DOID:11721 glycogen storage disease VII ISO RGD:68621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type VII PMID:14339001|PMID:16199547|PMID:17576681|PMID:1833270|PMID:2140573|PMID:22364848|PMID:22995305|PMID:24011984|PMID:24033266|PMID:25741868|PMID:27066546|PMID:28492532|PMID:28779239|PMID:7479776|PMID:7513946|PMID:7603526|PMID:7825568|PMID:8037209|PMID:8444874|PMID:8659544|PMID:8880699|PMID:8889589|PMID:9389749|PMID:9443500|PMID:9536098 11920831 PFKM phosphofructokinase, muscle gene DOID:2747 glycogen storage disease ISO RGD:68621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycogen storage disease PMID:24033266|PMID:28492532|PMID:7825568|PMID:8037209|PMID:8880699|PMID:9389749 11920831 PFKM phosphofructokinase, muscle gene DOID:630 genetic disease ISO RGD:68621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11920831 PFKM phosphofructokinase, muscle gene DOID:9000884 Rhabdomyolysis ISO RGD:68621 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:24033266|PMID:25741868|PMID:28492532|PMID:28779239|PMID:8037209|PMID:8444874|PMID:8880699|PMID:9389749 11920831 PFKM phosphofructokinase, muscle gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:68621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563825 11920831 PFKM phosphofructokinase, muscle gene DOID:9007102 Myocardial Ischemia ISO RGD:68621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11920887 PTRH2 peptidyl-tRNA hydrolase 2 gene DOID:0050753 cerebellar ataxia ISO RGD:1602115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25558065|PMID:25741868|PMID:27129381|PMID:28328138 11920887 PTRH2 peptidyl-tRNA hydrolase 2 gene DOID:0050777 Joubert syndrome ISO RGD:1602115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11920887 PTRH2 peptidyl-tRNA hydrolase 2 gene DOID:0080226 autosomal dominant intellectual developmental disorder 56 ISO RGD:1602115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 PMID:25741868 11920887 PTRH2 peptidyl-tRNA hydrolase 2 gene DOID:630 genetic disease ISO RGD:1602115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11920887 PTRH2 peptidyl-tRNA hydrolase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1602115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 11920887 PTRH2 peptidyl-tRNA hydrolase 2 gene DOID:9005516 Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1 ISO RGD:1602115 D RGD:7240710 20180130 OMIM 11920887 PTRH2 peptidyl-tRNA hydrolase 2 gene DOID:9005516 Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1 ISO RGD:1602115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 PMID:25558065|PMID:25741868|PMID:27129381|PMID:28328138|PMID:31057140|PMID:33092935 11920905 LINGO1 leucine rich repeat and Ig domain containing 1 gene DOID:0081225 autosomal recessive intellectual developmental disorder 64 ISO RGD:1318574 D RGD:7240710 20190315 OMIM 11920905 LINGO1 leucine rich repeat and Ig domain containing 1 gene DOID:0081225 autosomal recessive intellectual developmental disorder 64 ISO RGD:1318574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 64 | ClinVar Annotator: match by term: Mental retardation, autosomal recessive 64 PMID:25741868|PMID:28837161 11920905 LINGO1 leucine rich repeat and Ig domain containing 1 gene DOID:1686 glaucoma treatment ISO RGD:1318574 D RGD:9068941 20200609 RGD PMID:19422885|REF_RGD_ID:8655601 11920905 LINGO1 leucine rich repeat and Ig domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1318574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11920905 LINGO1 leucine rich repeat and Ig domain containing 1 gene DOID:4990 essential tremor ISO RGD:1318574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19182806 11920905 LINGO1 leucine rich repeat and Ig domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1318574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11920905 LINGO1 leucine rich repeat and Ig domain containing 1 gene DOID:630 genetic disease ISO RGD:1318574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11920905 LINGO1 leucine rich repeat and Ig domain containing 1 gene DOID:9256 colorectal cancer ISO RGD:1318574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11920930 ARMC12 armadillo repeat containing 12 gene DOID:0050553 JMP syndrome ISO RGD:1314376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11920930 ARMC12 armadillo repeat containing 12 gene DOID:10283 prostate cancer ISO RGD:1314376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11920930 ARMC12 armadillo repeat containing 12 gene DOID:630 genetic disease ISO RGD:1314376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11920940 CDHR2 cadherin related family member 2 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1606556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11920940 CDHR2 cadherin related family member 2 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1606556 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11920940 CDHR2 cadherin related family member 2 gene DOID:630 genetic disease ISO RGD:1606556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11920940 CDHR2 cadherin related family member 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1606556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11920940 CDHR2 cadherin related family member 2 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1606556 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 11920976 KCNAB1 potassium voltage-gated channel subfamily A regulatory beta subunit 1 gene DOID:10763 hypertension ISO RGD:61827 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta, arteries (rat) PMID:11358947|REF_RGD_ID:1627659 11920976 KCNAB1 potassium voltage-gated channel subfamily A regulatory beta subunit 1 gene DOID:3328 temporal lobe epilepsy susceptibility ISO RGD:1607081 D RGD:9068941 20200609 RGD DNA:snps, haplotypes:multiple (human) PMID:21333500|REF_RGD_ID:9743959 11920976 KCNAB1 potassium voltage-gated channel subfamily A regulatory beta subunit 1 gene DOID:630 genetic disease ISO RGD:1607081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11920976 KCNAB1 potassium voltage-gated channel subfamily A regulatory beta subunit 1 gene DOID:9002669 Hypoxia ISO RGD:62118 D RGD:9068941 20200609 RGD mRNA:decreased expression:carotid body (mouse) PMID:15890701|REF_RGD_ID:9743958 11921004 CCNI cyclin I gene DOID:630 genetic disease ISO RGD:1319424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921004 CCNI cyclin I gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1319424 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11921015 MN1 MN1 proto-oncogene, transcriptional regulator gene DOID:1882 atrial heart septal defect ISO RGD:1348081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868|PMID:31834374 11921015 MN1 MN1 proto-oncogene, transcriptional regulator gene DOID:3302 chordoma ISO RGD:1348081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chordoma 11921015 MN1 MN1 proto-oncogene, transcriptional regulator gene DOID:3565 meningioma ISO RGD:1348081 D RGD:9068941 20200609 RGD DNA:translocation PMID:7731706|REF_RGD_ID:1600423 11921015 MN1 MN1 proto-oncogene, transcriptional regulator gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1348081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of hemidiaphragm PMID:25741868|PMID:31834374 11921015 MN1 MN1 proto-oncogene, transcriptional regulator gene DOID:4586 familial meningioma ISO RGD:1348081 D RGD:7240710 20230505 OMIM 11921015 MN1 MN1 proto-oncogene, transcriptional regulator gene DOID:4586 familial meningioma ISO RGD:1348081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial meningioma PMID:25741868 11921015 MN1 MN1 proto-oncogene, transcriptional regulator gene DOID:630 genetic disease ISO RGD:1348081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28135719|PMID:28330790|PMID:31834374|PMID:31839203|PMID:32790267 11921015 MN1 MN1 proto-oncogene, transcriptional regulator gene DOID:8692 myeloid leukemia ISO RGD:1348081 D RGD:9068941 20200609 RGD acute myeloid leukemia, DNA:translocation PMID:7731705|REF_RGD_ID:1600424 11921015 MN1 MN1 proto-oncogene, transcriptional regulator gene DOID:9000547 CEBALID Syndrome ISO RGD:1348081 D RGD:7240710 20200318 OMIM 11921015 MN1 MN1 proto-oncogene, transcriptional regulator gene DOID:9000547 CEBALID Syndrome ISO RGD:1348081 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: CEBALID syndrome | ClinVar Annotator: match by term: MN1 C-TERMINAL TRUNCATION SYNDROME PMID:22451504|PMID:22965664|PMID:25741868|PMID:28135719|PMID:28330790|PMID:31834374|PMID:31839203|PMID:32790267|PMID:33351070|PMID:33351141 11921015 MN1 MN1 proto-oncogene, transcriptional regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 11921015 MN1 MN1 proto-oncogene, transcriptional regulator gene DOID:9119 acute myeloid leukemia ISO RGD:1348081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19822134 11921022 PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:0060017 CD3epsilon deficiency ISO RGD:733676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 11921022 PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:0060058 lymphoma ISO RGD:733676 D RGD:9068941 20200609 RGD DNA:translocation:intron:t(ll;14)(q23;q32) (human) PMID:11983068|REF_RGD_ID:4107059 11921022 PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:733676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11921022 PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:0080690 RASopathy ISO RGD:733676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11921022 PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:733676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 11921022 PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:0111123 nephronophthisis 15 ISO RGD:733676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 11921022 PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:0111971 immunodeficiency 18 ISO RGD:733676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 11921022 PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:0111972 immunodeficiency 19 ISO RGD:733676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 11921022 PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:0111973 immunodeficiency 17 ISO RGD:733676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 11921022 PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:1059 intellectual disability ISO RGD:733676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11921022 PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:630 genetic disease ISO RGD:733676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921022 PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11921022 PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:9007661 Dwarfism ISO RGD:733676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11921038 PCCA propionyl-CoA carboxylase subunit alpha gene DOID:0110878 holoprosencephaly 5 ISO RGD:736733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 11921038 PCCA propionyl-CoA carboxylase subunit alpha gene DOID:14701 propionic acidemia ISO RGD:736733 D RGD:7240710 20180130 OMIM 11921038 PCCA propionyl-CoA carboxylase subunit alpha gene DOID:14701 propionic acidemia ISO RGD:736733 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:10101253|PMID:10329019|PMID:10518292|PMID:10780784|PMID:11592820|PMID:12385775|PMID:12559849|PMID:14960587|PMID:15059621|PMID:15164333|PMID:15235904|PMID:15464417|PMID:16023992|PMID:16199547|PMID:17051315|PMID:17576681|PMID:18414145|PMID:18790721|PMID:19099776|PMID:19157943|PMID:2037281|PMID:20493181|PMID:20549364|PMID:20725044|PMID:21094621|PMID:22033733|PMID:22156789|PMID:22334403|PMID:22593918|PMID:23053474|PMID:23348723|PMID:23430860|PMID:23757202|PMID:24033266|PMID:24059531|PMID:24464666|PMID:24863100|PMID:25047749|PMID:25636094|PMID:25640679|PMID:25741868|PMID:26740382|PMID:27227689|PMID:27489777|PMID:27825584|PMID:27900673|PMID:28492532|PMID:28712602|PMID:29033250|PMID:29978829|PMID:30159853|PMID:30186825|PMID:30209273|PMID:30274917|PMID:30705822|PMID:31063319|PMID:31249402|PMID:31319225|PMID:31757659|PMID:31828787|PMID:31893529|PMID:31916709|PMID:32252659|PMID:32819290|PMID:33028371|PMID:33473339|PMID:33923806|PMID:6790853|PMID:7915138|PMID:8083196|PMID:9385377|PMID:9536098|PMID:9887338 11921038 PCCA propionyl-CoA carboxylase subunit alpha gene DOID:4621 holoprosencephaly ISO RGD:736733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 11921038 PCCA propionyl-CoA carboxylase subunit alpha gene DOID:630 genetic disease ISO RGD:736733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15164333|PMID:15464417|PMID:16199547|PMID:23430860|PMID:25741868|PMID:27227689|PMID:28492532 11921038 PCCA propionyl-CoA carboxylase subunit alpha gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:736733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11921038 PCCA propionyl-CoA carboxylase subunit alpha gene DOID:9252 amino acid metabolic disorder ISO RGD:736733 D RGD:9068941 20200609 RGD propionic acidemia, OMIM:606054, DNA:deletion:intron:1824delAAGT PMID:9385377|REF_RGD_ID:1600306 11921073 SCARB2 scavenger receptor class B member 2 gene DOID:0080600 COVID-19 ISO RGD:732465 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11921073 SCARB2 scavenger receptor class B member 2 gene DOID:0111444 progressive myoclonus epilepsy 4 ISO RGD:732465 D RGD:7240710 20180130 OMIM 11921073 SCARB2 scavenger receptor class B member 2 gene DOID:0111444 progressive myoclonus epilepsy 4 ISO RGD:732465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 4, with or without renal failure PMID:15364701|PMID:16199547|PMID:17576681|PMID:18308289|PMID:18424452|PMID:19454373|PMID:19597094|PMID:19847901|PMID:21670406|PMID:21796727|PMID:22032306|PMID:22767442|PMID:23225201|PMID:23515316|PMID:23659519|PMID:24339182|PMID:24485911|PMID:24620919|PMID:25088547|PMID:25741868|PMID:26467025|PMID:26836416|PMID:28222800|PMID:28492532|PMID:29261713|PMID:29358611|PMID:9536098 11921073 SCARB2 scavenger receptor class B member 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:732465 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25088547|PMID:25741868|PMID:26467025|PMID:28492532 11921073 SCARB2 scavenger receptor class B member 2 gene DOID:1826 epilepsy ISO RGD:732465 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 11921073 SCARB2 scavenger receptor class B member 2 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:732465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:28492532|PMID:29358611 11921073 SCARB2 scavenger receptor class B member 2 gene DOID:630 genetic disease ISO RGD:732465 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18308289|PMID:19847901|PMID:24485911|PMID:24620919|PMID:25088547|PMID:25741868|PMID:26467025|PMID:26836416|PMID:28222800|PMID:28492532|PMID:29261713|PMID:29358611|PMID:9536098 11921073 SCARB2 scavenger receptor class B member 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:732465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:15364701|PMID:16199547|PMID:17576681|PMID:18308289|PMID:19597094|PMID:19847901|PMID:21670406|PMID:22767442|PMID:23515316|PMID:23659519|PMID:24339182|PMID:24485911|PMID:24620919|PMID:25088547|PMID:25741868|PMID:26467025|PMID:26836416|PMID:28222800|PMID:28492532|PMID:29261713|PMID:29358611|PMID:9536098 11921073 SCARB2 scavenger receptor class B member 2 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:732465 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11921073 SCARB2 scavenger receptor class B member 2 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:732465 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myoclonus epilepsy PMID:25741868|PMID:28492532|PMID:29358611 11921089 ERN2 endoplasmic reticulum to nucleus signaling 2 gene DOID:630 genetic disease ISO RGD:1346348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921122 SPACA1 sperm acrosome associated 1 gene DOID:630 genetic disease ISO RGD:1344211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921133 KLHL32 kelch like family member 32 gene DOID:630 genetic disease ISO RGD:1321228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921164 COL23A1 collagen type XXIII alpha 1 chain gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1353219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11921164 COL23A1 collagen type XXIII alpha 1 chain gene DOID:0060071 pre-malignant neoplasm ISO RGD:1353219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11921164 COL23A1 collagen type XXIII alpha 1 chain gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1353219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11921164 COL23A1 collagen type XXIII alpha 1 chain gene DOID:0112103 Sotos syndrome 1 ISO RGD:1353219 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11921164 COL23A1 collagen type XXIII alpha 1 chain gene DOID:630 genetic disease ISO RGD:1353219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921164 COL23A1 collagen type XXIII alpha 1 chain gene DOID:9005539 Familial Prostate Cancer ISO RGD:1353219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11921196 DAPK3 death associated protein kinase 3 gene DOID:13938 amenorrhea ISO RGD:731385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11921196 DAPK3 death associated protein kinase 3 gene DOID:630 genetic disease ISO RGD:731385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921218 MTHFSD methenyltetrahydrofolate synthetase domain containing gene DOID:0111985 immunodeficiency 32B ISO RGD:1604316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 32B PMID:28492532 11921218 MTHFSD methenyltetrahydrofolate synthetase domain containing gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1604316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 11921218 MTHFSD methenyltetrahydrofolate synthetase domain containing gene DOID:630 genetic disease ISO RGD:1604316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921253 ALDH8A1 aldehyde dehydrogenase 8 family member A1 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1319646 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 11921253 ALDH8A1 aldehyde dehydrogenase 8 family member A1 gene DOID:13580 cholestasis ISO RGD:1319646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 11921253 ALDH8A1 aldehyde dehydrogenase 8 family member A1 gene DOID:630 genetic disease ISO RGD:1319646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921267 FMC1 formation of mitochondrial complex V assembly factor 1 homolog gene DOID:0080690 RASopathy ISO RGD:1606950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 11921267 FMC1 formation of mitochondrial complex V assembly factor 1 homolog gene DOID:13548 secondary Parkinson disease ISO RGD:1606950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29371327 11921267 FMC1 formation of mitochondrial complex V assembly factor 1 homolog gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11921267 FMC1 formation of mitochondrial complex V assembly factor 1 homolog gene DOID:9002877 Parkinson's Disease, Mitochondrial ISO RGD:1606950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29371327 11921296 NKX6-2 NK6 homeobox 2 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1316381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11921296 NKX6-2 NK6 homeobox 2 gene DOID:0080252 spastic ataxia 8 ISO RGD:1316381 D RGD:7240710 20190315 OMIM 11921296 NKX6-2 NK6 homeobox 2 gene DOID:0080252 spastic ataxia 8 ISO RGD:1316381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy PMID:25741868|PMID:28492532|PMID:28575651|PMID:30285346|PMID:31509304|PMID:32860008 11921296 NKX6-2 NK6 homeobox 2 gene DOID:630 genetic disease ISO RGD:1316381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11921309 MANF mesencephalic astrocyte derived neurotrophic factor gene DOID:0080855 Parkinsonism ISO RGD:1316336 D RGD:9068941 20200609 RGD PMID:19641128|REF_RGD_ID:2325813 11921309 MANF mesencephalic astrocyte derived neurotrophic factor gene DOID:1612 breast cancer susceptibility ISO RGD:1316336 D RGD:9068941 20200609 RGD PMID:8971156|REF_RGD_ID:1599219 11921309 MANF mesencephalic astrocyte derived neurotrophic factor gene DOID:1749 squamous cell carcinoma susceptibility ISO RGD:1316336 D RGD:9068941 20200609 RGD PMID:8971156|REF_RGD_ID:1599219 11921309 MANF mesencephalic astrocyte derived neurotrophic factor gene DOID:1793 pancreatic cancer ISO RGD:1316336 D RGD:9068941 20200609 RGD DNA:point mutations, deletions:cds:multiple (human) PMID:9174057|REF_RGD_ID:2325804 11921309 MANF mesencephalic astrocyte derived neurotrophic factor gene DOID:1793 pancreatic cancer no_association ISO RGD:1316336 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple (human) PMID:17072959|REF_RGD_ID:2317157 11921309 MANF mesencephalic astrocyte derived neurotrophic factor gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1316336 D RGD:9068941 20200609 RGD PMID:8971156|REF_RGD_ID:1599219 11921309 MANF mesencephalic astrocyte derived neurotrophic factor gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:1316336 D RGD:9068941 20200609 RGD PMID:8649854|REF_RGD_ID:1599220 11921309 MANF mesencephalic astrocyte derived neurotrophic factor gene DOID:630 genetic disease ISO RGD:1316336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921309 MANF mesencephalic astrocyte derived neurotrophic factor gene DOID:9002304 Prostatic Neoplasms susceptibility ISO RGD:1316336 D RGD:9068941 20200609 RGD PMID:8971156|REF_RGD_ID:1599219 11921309 MANF mesencephalic astrocyte derived neurotrophic factor gene DOID:9004009 Reperfusion Injury ISO RGD:1307252 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19773801|REF_RGD_ID:2325809 11921317 TAC4 tachykinin precursor 4 gene DOID:630 genetic disease ISO RGD:735700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921330 MED31 mediator complex subunit 31 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1343042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:28492532 11921330 MED31 mediator complex subunit 31 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1343042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 11921330 MED31 mediator complex subunit 31 gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:1343042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 11921330 MED31 mediator complex subunit 31 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1343042 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11921330 MED31 mediator complex subunit 31 gene DOID:630 genetic disease ISO RGD:1343042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921338 IGFBP1 insulin like growth factor binding protein 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:69038 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12619036 11921338 IGFBP1 insulin like growth factor binding protein 1 gene DOID:11713 diabetic angiopathy ISO RGD:69038 D RGD:9068941 20200609 RGD DNA:SNPs PMID:16306374|REF_RGD_ID:1625238 11921338 IGFBP1 insulin like growth factor binding protein 1 gene DOID:12236 primary biliary cholangitis ISO RGD:69038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18422935 11921338 IGFBP1 insulin like growth factor binding protein 1 gene DOID:1612 breast cancer ISO RGD:69038 D RGD:9068941 20200609 RGD protein:decreased expression:serum:in patients with breast cancer versus benign breast disease (p=0.001) PMID:10069662|REF_RGD_ID:2301715 11921338 IGFBP1 insulin like growth factor binding protein 1 gene DOID:1612 breast cancer no_association ISO RGD:69038 D RGD:9068941 20200609 RGD higher serum expression in cases vs controls but association not significant in multivariate analysis PMID:17287408|REF_RGD_ID:2301716 11921338 IGFBP1 insulin like growth factor binding protein 1 gene DOID:289 endometriosis ISO RGD:69038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11921338 IGFBP1 insulin like growth factor binding protein 1 gene DOID:3021 acute kidney failure ISO RGD:69038 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7540432 11921338 IGFBP1 insulin like growth factor binding protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11921338 IGFBP1 insulin like growth factor binding protein 1 gene DOID:5082 liver cirrhosis ISO RGD:69038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 11921338 IGFBP1 insulin like growth factor binding protein 1 gene DOID:630 genetic disease ISO RGD:69038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921338 IGFBP1 insulin like growth factor binding protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:69038 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 11921338 IGFBP1 insulin like growth factor binding protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 11921338 IGFBP1 insulin like growth factor binding protein 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69038 D RGD:9068941 20200609 RGD DNA:SNPs PMID:16306374|REF_RGD_ID:1625238 11921338 IGFBP1 insulin like growth factor binding protein 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:69038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 11921338 IGFBP1 insulin like growth factor binding protein 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:69038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11921338 IGFBP1 insulin like growth factor binding protein 1 gene DOID:9005930 Endotoxemia ISO RGD:2872 D RGD:9068941 20200609 RGD PMID:12217886|REF_RGD_ID:625688 11921338 IGFBP1 insulin like growth factor binding protein 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:69038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15805072 11921338 IGFBP1 insulin like growth factor binding protein 1 gene DOID:9007730 Burns ISO RGD:2872 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney, liver PMID:10827012|REF_RGD_ID:12910869 11921347 ATP6V1D ATPase H+ transporting V1 subunit D gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1348353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 11921347 ATP6V1D ATPase H+ transporting V1 subunit D gene DOID:630 genetic disease ISO RGD:1348353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921347 ATP6V1D ATPase H+ transporting V1 subunit D gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11921347 ATP6V1D ATPase H+ transporting V1 subunit D gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11921360 ABHD2 abhydrolase domain containing 2, acylglycerol lipase gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1322825 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 11921360 ABHD2 abhydrolase domain containing 2, acylglycerol lipase gene DOID:13938 amenorrhea ISO RGD:1322825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11921360 ABHD2 abhydrolase domain containing 2, acylglycerol lipase gene DOID:2717 Bloom syndrome ISO RGD:1322825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11921360 ABHD2 abhydrolase domain containing 2, acylglycerol lipase gene DOID:630 genetic disease ISO RGD:1322825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921360 ABHD2 abhydrolase domain containing 2, acylglycerol lipase gene DOID:9256 colorectal cancer ISO RGD:1322825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11921388 PDE3B phosphodiesterase 3B gene DOID:1059 intellectual disability ISO RGD:732966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11921388 PDE3B phosphodiesterase 3B gene DOID:11612 polycystic ovary syndrome ISO RGD:732966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11921388 PDE3B phosphodiesterase 3B gene DOID:630 genetic disease ISO RGD:732966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921407 CEPT1 choline/ethanolamine phosphotransferase 1 gene DOID:12849 autistic disorder ISO RGD:1345389 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11921407 CEPT1 choline/ethanolamine phosphotransferase 1 gene DOID:630 genetic disease ISO RGD:1345389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921435 LRP2BP LRP2 binding protein gene DOID:12849 autistic disorder ISO RGD:1601755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11921435 LRP2BP LRP2 binding protein gene DOID:12930 dilated cardiomyopathy ISO RGD:1601755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 11921435 LRP2BP LRP2 binding protein gene DOID:630 genetic disease ISO RGD:1601755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921435 LRP2BP LRP2 binding protein gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1601755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 11921466 TPPP3 tubulin polymerization promoting protein family member 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1604620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11921466 TPPP3 tubulin polymerization promoting protein family member 3 gene DOID:630 genetic disease ISO RGD:1604620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921477 LOC100987113 olfactory receptor 56B1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1347435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11921477 LOC100987113 olfactory receptor 56B1 gene DOID:630 genetic disease ISO RGD:1347435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921482 CHST4 carbohydrate sulfotransferase 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1321907 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11921482 CHST4 carbohydrate sulfotransferase 4 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1321907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11921482 CHST4 carbohydrate sulfotransferase 4 gene DOID:630 genetic disease ISO RGD:1321907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921505 SEM1 SEM1, 26S proteasome complex subunit gene DOID:1749 squamous cell carcinoma ISO RGD:1349756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18922899 11921505 SEM1 SEM1, 26S proteasome complex subunit gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11921518 ARSG arylsulfatase G gene DOID:0050439 Usher syndrome ISO RGD:1602225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:29300381 11921518 ARSG arylsulfatase G gene DOID:0060041 autism spectrum disorder ISO RGD:1602225 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11921518 ARSG arylsulfatase G gene DOID:0080074 neural tube defect ISO RGD:1602225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect 11921518 ARSG arylsulfatase G gene DOID:12798 mucopolysaccharidosis ISO RGD:1331908 D RGD:9068941 20220825 MouseDO OMIM:252700 11921518 ARSG arylsulfatase G gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:12390961 D RGD:9068941 20210604 OMIA Lysosomal storage disease, ARSG related PMID:12951908|PMID:15058771|PMID:15365721|PMID:16916197|PMID:20429032|PMID:20679209|PMID:22689975|PMID:23338040|PMID:24069350|PMID:25135642|PMID:25452429|PMID:27778018|PMID:28860089|PMID:32219101 11921518 ARSG arylsulfatase G gene DOID:630 genetic disease ISO RGD:1602225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11921518 ARSG arylsulfatase G gene DOID:9005209 Usher Syndrome Type 4 ISO RGD:1602225 D RGD:7240710 20190315 OMIM 11921518 ARSG arylsulfatase G gene DOID:9005209 Usher Syndrome Type 4 ISO RGD:1602225 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 4 PMID:25741868|PMID:28492532|PMID:29300381|PMID:32455177|PMID:33300174|PMID:33629623|PMID:36317447 11921553 HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:732305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 11921553 HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:732305 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:25741868 11921553 HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:0111310 familial febrile seizures 2 ISO RGD:732305 D RGD:7240710 20210915 OMIM 11921553 HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:0111310 familial febrile seizures 2 ISO RGD:732305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Febrile seizures, familial, 2 PMID:22131395|PMID:24324597|PMID:25741868|PMID:29064616 11921553 HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:11832 visual epilepsy ISO RGD:620689 D RGD:9068941 20220728 RGD PMID:17988239|REF_RGD_ID:9686135 11921553 HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:1826 epilepsy ISO RGD:732305 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11921553 HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:2723 dermatitis ISO RGD:620689 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion: PMID:23236374|REF_RGD_ID:9686396 11921553 HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:5339 cyclic hematopoiesis ISO RGD:732305 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11921553 HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:630 genetic disease ISO RGD:732305 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11921553 HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:9000930 Dental Pulp Exposure ISO RGD:620689 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:17645513|REF_RGD_ID:9686147 11921553 HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11921553 HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:620689 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:myocyte: PMID:19471099|REF_RGD_ID:9693689 11921553 HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620689 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:19815055|REF_RGD_ID:9693680 11921553 HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:9007956 Febrile Seizures ISO RGD:620689 D RGD:9068941 20200609 RGD PMID:15837575|REF_RGD_ID:9686385 11921553 HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:620689 D RGD:9068941 20200609 RGD PMID:24838625|REF_RGD_ID:9686415 11921553 HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:9471 meningitis ISO RGD:620689 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:19409968|REF_RGD_ID:2316615 11921564 PHETA1 PH domain containing endocytic trafficking adaptor 1 gene DOID:630 genetic disease ISO RGD:1602835 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921564 PHETA1 PH domain containing endocytic trafficking adaptor 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1602835 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:0050157 cryptogenic organizing pneumonia ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:lung, lymphocyte (human) PMID:21144722|REF_RGD_ID:5131112 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1298224 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:0050851 glomerulosclerosis ISO RGD:731571 D RGD:9068941 20200609 RGD associated with Hypertension PMID:23389459|REF_RGD_ID:7245475 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1298224 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:0080162 lupus nephritis treatment ISO RGD:1298224 D RGD:9068941 20200609 RGD PMID:22846145|REF_RGD_ID:7245541 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:0080162 lupus nephritis treatment ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:22674120|REF_RGD_ID:7245544 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20353583 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:0080745 polymyositis severity ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11055823|REF_RGD_ID:8661747 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:0080855 Parkinsonism treatment ISO RGD:1298224 D RGD:9068941 20200609 RGD PMID:21831964|REF_RGD_ID:7247422 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:10325 silicosis ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:11208652|REF_RGD_ID:5131150 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:10457 Legionnaires' disease ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:18838275|REF_RGD_ID:5131445 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:10591 pre-eclampsia ISO RGD:1298224 D RGD:9068941 20200609 RGD human protein in rat model PMID:21505354|REF_RGD_ID:5131211 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:10652 Alzheimer's disease ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:decreased expression:brain: PMID:20110607|REF_RGD_ID:13825249 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:10652 Alzheimer's disease ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid: PMID:21978728|REF_RGD_ID:13825268 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:1074 kidney failure severity ISO RGD:1298224 D RGD:9068941 20200609 RGD associated with Neoplasms, Plasma Cell PMID:9650354|REF_RGD_ID:7245537 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:11394 adult respiratory distress syndrome ISO RGD:1298224 D RGD:9068941 20200609 RGD human protein in rat model PMID:19916860|REF_RGD_ID:5131423 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:11394 adult respiratory distress syndrome ISO RGD:731571 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:21512145|REF_RGD_ID:5131206 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:11394 adult respiratory distress syndrome severity ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:11159038|REF_RGD_ID:5131147 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:11446 sciatic neuropathy ISO RGD:621238 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglia (rat) PMID:11240015|REF_RGD_ID:5130963 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:11476 osteoporosis ISO RGD:1298224 D RGD:9068941 20200609 RGD PMID:17002564|REF_RGD_ID:1625350 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:11832 visual epilepsy ISO RGD:621238 D RGD:9068941 20200609 RGD PMID:23333565|REF_RGD_ID:7245573 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:1205 allergic disease ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:12849 autistic disorder ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16139734 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:731571 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21221075|REF_RGD_ID:7245511 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:13406 pulmonary sarcoidosis ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21508170|REF_RGD_ID:5131275 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:1380 endometrial cancer ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:8920779|REF_RGD_ID:5131439 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:14069 cerebral malaria ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:12228317|REF_RGD_ID:5131158 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:14330 Parkinson's disease ISO RGD:731571 D RGD:9068941 20200609 RGD mRNA:decreased expression:midbrain, dopaminergic neuron (mouse) PMID:19780901|REF_RGD_ID:5130931 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:1520 colon carcinoma ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:1655258|REF_RGD_ID:5131434 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:2316 brain ischemia ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:2394 ovarian cancer disease_progression ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19825522|REF_RGD_ID:2315115 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:289 endometriosis ISO RGD:1298224 D RGD:9068941 20200609 RGD human protein in rat model PMID:21481092|REF_RGD_ID:5131251 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:289 endometriosis treatment ISO RGD:1298224 D RGD:9068941 20200609 RGD PMID:21741153|REF_RGD_ID:7247423 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:2921 glomerulonephritis ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:15841213|PMID:22449555|REF_RGD_ID:7245530|REF_RGD_ID:7245546 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:2921 glomerulonephritis treatment ISO RGD:1298224 D RGD:9068941 20200609 RGD PMID:23400706|REF_RGD_ID:7245540 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:2986 IgA glomerulonephritis ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16209246|REF_RGD_ID:6907414 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:2986 IgA glomerulonephritis treatment ISO RGD:1298224 D RGD:9068941 20200609 RGD PMID:9844059|REF_RGD_ID:6909132 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:3021 acute kidney failure ISO RGD:1298224 D RGD:9068941 20200609 RGD associated with Acute Lung Injury PMID:18074478|REF_RGD_ID:5128661 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:3021 acute kidney failure ISO RGD:1298224 D RGD:9068941 20200609 RGD associated with Shock, Septic;protein:increased expression:serum PMID:12500222|REF_RGD_ID:7245534 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:3021 acute kidney failure ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:12865254|REF_RGD_ID:7245532 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:sputum (human) PMID:21037022|REF_RGD_ID:5131154 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:399 tuberculosis ISO RGD:1298224 D RGD:9068941 20200609 RGD DNA:snp:3' utr:g.*215C>T rs3397 (human) PMID:20007930|REF_RGD_ID:5131209 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:4450 renal cell carcinoma ISO RGD:1298224 D RGD:9068941 20200609 RGD PMID:20566746|REF_RGD_ID:7245512 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:5082 liver cirrhosis ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20353583 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:5199 ureteral obstruction ISO RGD:621238 D RGD:9068941 20200609 RGD PMID:19541932|REF_RGD_ID:7245519 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:5199 ureteral obstruction ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:10564241|REF_RGD_ID:7245536 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:5327 retinal detachment ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:21402953|REF_RGD_ID:5131257 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:552 pneumonia ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:552 pneumonia ISO RGD:1298224 D RGD:9068941 20200609 RGD Idiopathic Pneumonia Syndrome PMID:18664626|REF_RGD_ID:5131448 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:552 pneumonia susceptibility ISO RGD:1298224 D RGD:9068941 20200609 RGD associated with Carcinoma, Non-Small-Cell Lung; DNA:snp:cds:p.M196R rs1061622 (human) PMID:20811626|REF_RGD_ID:5131286 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:5844 myocardial infarction ISO RGD:621238 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:left ventricle myocardium (rat) PMID:21362018|REF_RGD_ID:5130892 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:6000 congestive heart failure ISO RGD:1298224 D RGD:9068941 20200609 RGD human protein in rat model PMID:21135513|REF_RGD_ID:5131262 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:630 genetic disease ISO RGD:1298224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:635 acquired immunodeficiency syndrome ISO RGD:1298224 D RGD:9068941 20200609 RGD PMID:8548330|REF_RGD_ID:12904035 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:6543 acne susceptibility ISO RGD:1298224 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.M196R(human) PMID:20861605|REF_RGD_ID:8553023 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:7147 ankylosing spondylitis ISO RGD:1298224 D RGD:9068941 20200609 RGD PMID:21317434|REF_RGD_ID:5131280 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:783 end stage renal disease ISO RGD:1298224 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma PMID:22266663|REF_RGD_ID:7245510 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:841 extrinsic allergic alveolitis ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:alveolar macrophage (human) PMID:15929959|REF_RGD_ID:5131148 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:8541 Sezary's disease ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26258847 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:8691 mycosis fungoides ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26258847 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:874 bacterial pneumonia ISO RGD:731571 D RGD:9068941 20200609 RGD protein:increased expression:serum (mouse) PMID:19842848|REF_RGD_ID:5131429 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:8778 Crohn's disease ISO RGD:621238 D RGD:9068941 20200609 RGD protein:increased expression:large intestine mucosa (rat) PMID:21359923|REF_RGD_ID:5130893 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9000053 Headache ISO RGD:1298224 D RGD:9068941 20200609 RGD human protein in rat model PMID:21036476|REF_RGD_ID:5131274 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9000169 Systemic Inflammatory Response Syndrome ISO RGD:621238 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:carotid body, jugular ganglion, nodose ganglion (rat) PMID:21195213|REF_RGD_ID:5130879 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9001472 Nasal Polyps ISO RGD:1298224 D RGD:9068941 20200609 RGD mRNA:decreased expression:nasal polyp (human) PMID:19095579|REF_RGD_ID:5131442 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9001553 Spinal Cord Compression ISO RGD:1298224 D RGD:9068941 20200609 RGD human protein in rat model PMID:21224756|REF_RGD_ID:5130917 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9001553 Spinal Cord Compression ISO RGD:621238 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (rat) PMID:21224756|REF_RGD_ID:5130917 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9001579 Neurogenic Inflammation ISO RGD:621238 D RGD:9068941 20200609 RGD PMID:23333565|REF_RGD_ID:7245573 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9001916 Fetal Death ISO RGD:1298224 D RGD:9068941 20200609 RGD associated with Endotoxemia; human protein in rat model PMID:21187445|REF_RGD_ID:5131261 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9002165 Diabetic Nephropathies ISO RGD:1298224 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:serum PMID:19073786|REF_RGD_ID:2311357 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9002165 Diabetic Nephropathies ISO RGD:1298224 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum PMID:16408124|REF_RGD_ID:7245529 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9002165 Diabetic Nephropathies onset ISO RGD:1298224 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1 PMID:22266664|REF_RGD_ID:7245476 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9002211 Hyperalgesia ISO RGD:621238 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:22652595|REF_RGD_ID:8661750 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9002211 Hyperalgesia ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:18463260|REF_RGD_ID:5130960 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9002457 Experimental Arthritis ISO RGD:1298224 D RGD:9068941 20200609 RGD human protein in rat model PMID:21463515|REF_RGD_ID:5131255 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9002457 Experimental Arthritis treatment ISO RGD:621238 D RGD:9068941 20200609 RGD PMID:21690068|PMID:23052485|REF_RGD_ID:7245941|REF_RGD_ID:8661761 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9002589 Bone Fractures ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15071724 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis severity ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:serum, granulocyte PMID:19690440|REF_RGD_ID:7245518 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9004283 Transplant Rejection ISO RGD:1298224 D RGD:9068941 20200609 RGD PMID:19298452|REF_RGD_ID:7245520 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9004283 Transplant Rejection ISO RGD:621238 D RGD:9068941 20200609 RGD PMID:19298452|REF_RGD_ID:7245520 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9005372 Inflammation ISO RGD:1298224 D RGD:9068941 20200609 RGD human protein in rat model PMID:21081778|REF_RGD_ID:5131265 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1298224 D RGD:9068941 20200609 RGD human protein in rat model PMID:21481476|REF_RGD_ID:5131250 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:1298224 D RGD:9068941 20200609 RGD human protein in rat model PMID:21057386|REF_RGD_ID:5131270 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9006617 Fatigue ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12140350|REF_RGD_ID:8661748 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9007194 Sciatica treatment ISO RGD:621238 D RGD:9068941 20200609 RGD PMID:22425187|REF_RGD_ID:7245944 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9007271 Hypoalbuminemia ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15044820 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:621238 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15164724|REF_RGD_ID:1580295 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9008569 Bronchial Spasm ISO RGD:1298224 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid PMID:19340514|REF_RGD_ID:5131441 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:1298224 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.M196R (human) PMID:11607787|REF_RGD_ID:7245571 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:8393677|REF_RGD_ID:7245539 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9352 type 2 diabetes mellitus ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11882518 11921577 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9970 obesity ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11782876 11921596 CHRD chordin gene DOID:0111546 Currarino syndrome ISO RGD:1348275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11921596 CHRD chordin gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1348275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 11921596 CHRD chordin gene DOID:11198 DiGeorge syndrome ISO RGD:1550370 D RGD:9068941 20220825 MouseDO OMIM:188400 11921596 CHRD chordin gene DOID:12583 velocardiofacial syndrome ISO RGD:1550370 D RGD:9068941 20220825 MouseDO OMIM:192430 11921596 CHRD chordin gene DOID:630 genetic disease ISO RGD:1348275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921646 PSKH1 protein serine kinase H1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1312210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11921646 PSKH1 protein serine kinase H1 gene DOID:630 genetic disease ISO RGD:1312210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921652 SHBG sex hormone binding globulin gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:736172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11921652 SHBG sex hormone binding globulin gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:736172 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11921652 SHBG sex hormone binding globulin gene DOID:12177 common variable immunodeficiency ISO RGD:736172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11921652 SHBG sex hormone binding globulin gene DOID:12930 dilated cardiomyopathy ISO RGD:736172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25996886 11921652 SHBG sex hormone binding globulin gene DOID:1380 endometrial cancer ISO RGD:736172 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.D327N (human) PMID:17315164|REF_RGD_ID:1625245 11921652 SHBG sex hormone binding globulin gene DOID:1574 alcohol use disorder ISO RGD:736172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8590623 11921652 SHBG sex hormone binding globulin gene DOID:1790 malignant mesothelioma ISO RGD:736172 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:28377727 11921652 SHBG sex hormone binding globulin gene DOID:1875 impotence ISO RGD:736172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17961146 11921652 SHBG sex hormone binding globulin gene DOID:2729 dyskeratosis congenita ISO RGD:736172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11921652 SHBG sex hormone binding globulin gene DOID:3012 Li-Fraumeni syndrome ISO RGD:736172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11921652 SHBG sex hormone binding globulin gene DOID:630 genetic disease ISO RGD:736172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921652 SHBG sex hormone binding globulin gene DOID:9002304 Prostatic Neoplasms ISO RGD:736172 D RGD:9068941 20200910 CTD CTD Direct Evidence: marker/mechanism PMID:17220347 11921652 SHBG sex hormone binding globulin gene DOID:9006646 Metabolic Syndrome ISO RGD:736172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16968811|PMID:17992261 11921652 SHBG sex hormone binding globulin gene DOID:9006646 Metabolic Syndrome ISO RGD:736172 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17884445|REF_RGD_ID:2313785 11921652 SHBG sex hormone binding globulin gene DOID:9351 diabetes mellitus ISO RGD:736172 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18346991|REF_RGD_ID:2313784 11921652 SHBG sex hormone binding globulin gene DOID:9352 type 2 diabetes mellitus ISO RGD:736172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21982312 11921652 SHBG sex hormone binding globulin gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:736172 D RGD:9068941 20200609 RGD DNA, protein:SNPs, decreased expression:rs6257, rs6259, plasma (human) PMID:19657112|REF_RGD_ID:2313782 11921678 DDX17 DEAD-box helicase 17 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1312679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11921678 DDX17 DEAD-box helicase 17 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1312679 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11921678 DDX17 DEAD-box helicase 17 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1312679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11921678 DDX17 DEAD-box helicase 17 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1312679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11921699 LRRC74B leucine rich repeat containing 74B gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1602795 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 11921699 LRRC74B leucine rich repeat containing 74B gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1602795 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 11921699 LRRC74B leucine rich repeat containing 74B gene DOID:11198 DiGeorge syndrome ISO RGD:1602795 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome 11921699 LRRC74B leucine rich repeat containing 74B gene DOID:12583 velocardiofacial syndrome ISO RGD:1602795 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 11921699 LRRC74B leucine rich repeat containing 74B gene DOID:12849 autistic disorder ISO RGD:1602795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11921699 LRRC74B leucine rich repeat containing 74B gene DOID:5419 schizophrenia ISO RGD:1602795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11921699 LRRC74B leucine rich repeat containing 74B gene DOID:9007661 Dwarfism ISO RGD:1602795 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11921718 TMEM52 transmembrane protein 52 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1603246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11921718 TMEM52 transmembrane protein 52 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11921718 TMEM52 transmembrane protein 52 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1603246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11921718 TMEM52 transmembrane protein 52 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1603246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11921718 TMEM52 transmembrane protein 52 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1603246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11921718 TMEM52 transmembrane protein 52 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1603246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11921718 TMEM52 transmembrane protein 52 gene DOID:0111934 immunodeficiency 38 ISO RGD:1603246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11921718 TMEM52 transmembrane protein 52 gene DOID:0111935 immunodeficiency 16 ISO RGD:1603246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11921718 TMEM52 transmembrane protein 52 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11921718 TMEM52 transmembrane protein 52 gene DOID:630 genetic disease ISO RGD:1603246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921718 TMEM52 transmembrane protein 52 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11921718 TMEM52 transmembrane protein 52 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1603246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11921718 TMEM52 transmembrane protein 52 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1603246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11921728 MDK midkine gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:69142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11921728 MDK midkine gene DOID:1059 intellectual disability ISO RGD:69142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11921728 MDK midkine gene DOID:1790 malignant mesothelioma ISO RGD:69142 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 11921728 MDK midkine gene DOID:2030 anxiety disorder ISO RGD:69142 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19217924 11921728 MDK midkine gene DOID:2316 brain ischemia ISO RGD:69142 D RGD:9068941 20200609 RGD PMID:12127679|REF_RGD_ID:1582476 11921728 MDK midkine gene DOID:289 endometriosis ISO RGD:69142 D RGD:9068941 20200609 RGD PMID:15734764|REF_RGD_ID:1581202 11921728 MDK midkine gene DOID:3070 high grade glioma ISO RGD:69142 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21233844 11921728 MDK midkine gene DOID:3454 brain infarction ISO RGD:69073 D RGD:9068941 20200609 RGD PMID:15450683|REF_RGD_ID:1582478 11921728 MDK midkine gene DOID:4248 coronary stenosis ISO RGD:69073 D RGD:9068941 20200609 RGD PMID:10683378|REF_RGD_ID:1299187 11921728 MDK midkine gene DOID:5419 schizophrenia ISO RGD:69143 D RGD:9068941 20220825 MouseDO OMIM:181500 11921728 MDK midkine gene DOID:5844 myocardial infarction ISO RGD:69073 D RGD:9068941 20200609 RGD PMID:9568069|REF_RGD_ID:1582488 11921728 MDK midkine gene DOID:630 genetic disease ISO RGD:69142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921728 MDK midkine gene DOID:7148 rheumatoid arthritis ISO RGD:69143 D RGD:9068941 20200609 RGD PMID:15146411|REF_RGD_ID:1581200 11921728 MDK midkine gene DOID:9002165 Diabetic Nephropathies ISO RGD:69142 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17607302 11921728 MDK midkine gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:69073 D RGD:9068941 20200609 RGD PMID:9814819|REF_RGD_ID:9831448 11921728 MDK midkine gene DOID:9004009 Reperfusion Injury ISO RGD:69143 D RGD:9068941 20200609 RGD PMID:15780085|REF_RGD_ID:1582475 11921728 MDK midkine gene DOID:9008023 Memory Disorders ISO RGD:69142 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19217924 11921728 MDK midkine gene DOID:9008086 Developmental Disabilities ISO RGD:69142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11921737 TSTD2 thiosulfate sulfurtransferase like domain containing 2 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1322057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 11921737 TSTD2 thiosulfate sulfurtransferase like domain containing 2 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1322057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 11921737 TSTD2 thiosulfate sulfurtransferase like domain containing 2 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1322057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 11921737 TSTD2 thiosulfate sulfurtransferase like domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1322057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11921737 TSTD2 thiosulfate sulfurtransferase like domain containing 2 gene DOID:12712 nephronophthisis ISO RGD:1322057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 11921737 TSTD2 thiosulfate sulfurtransferase like domain containing 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 11921737 TSTD2 thiosulfate sulfurtransferase like domain containing 2 gene DOID:630 genetic disease ISO RGD:1322057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921737 TSTD2 thiosulfate sulfurtransferase like domain containing 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:1322057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 11921751 HDAC7 histone deacetylase 7 gene DOID:12858 Huntington's disease ISO RGD:1552552 D RGD:9068941 20200609 RGD protein:decreased expression:brain: PMID:21118817|REF_RGD_ID:9681718 11921751 HDAC7 histone deacetylase 7 gene DOID:630 genetic disease ISO RGD:1349346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921751 HDAC7 histone deacetylase 7 gene DOID:9256 colorectal cancer ISO RGD:1349346 D RGD:9068941 20200609 RGD mRNA:increased expression:colon: PMID:23724067|REF_RGD_ID:9590193 11921751 HDAC7 histone deacetylase 7 gene DOID:986 alopecia areata ISO RGD:1349346 D RGD:9068941 20200609 RGD mRNA:decreased expression:mononuclear cell: PMID:21936853|REF_RGD_ID:9587460 11921796 KY kyphoscoliosis peptidase gene DOID:0080098 myofibrillar myopathy 7 ISO RGD:1313421 D RGD:7240710 20190315 OMIM 11921796 KY kyphoscoliosis peptidase gene DOID:0080098 myofibrillar myopathy 7 ISO RGD:1313421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 7 PMID:25741868|PMID:27484770|PMID:27485408|PMID:30591934 11921796 KY kyphoscoliosis peptidase gene DOID:0080307 myofibrillar myopathy ISO RGD:1313421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11921796 KY kyphoscoliosis peptidase gene DOID:0080600 COVID-19 ISO RGD:1313421 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11921796 KY kyphoscoliosis peptidase gene DOID:2476 hereditary spastic paraplegia ISO RGD:1313421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28488683 11921796 KY kyphoscoliosis peptidase gene DOID:630 genetic disease ISO RGD:1313421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11921796 KY kyphoscoliosis peptidase gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1313421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 11921816 CD24 CD24 molecule gene DOID:1793 pancreatic cancer ISO RGD:736340 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:28369074 11921816 CD24 CD24 molecule gene DOID:2377 multiple sclerosis ISO RGD:736340 D RGD:9068941 20200611 RGD PMID:14657362|REF_RGD_ID:1358462 11921816 CD24 CD24 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736340 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11921821 GSX2 GS homeobox 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1602642 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 11921821 GSX2 GS homeobox 2 gene DOID:630 genetic disease ISO RGD:1602642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921821 GSX2 GS homeobox 2 gene DOID:9007719 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 ISO RGD:1602642 D RGD:7240710 20191127 OMIM 11921821 GSX2 GS homeobox 2 gene DOID:9007719 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 ISO RGD:1602642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 2 PMID:25741868|PMID:31412107 11921827 PLA2G4A phospholipase A2 group IVA gene DOID:0080322 polycystic kidney disease ISO RGD:67366 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:12490538|REF_RGD_ID:1642471 11921827 PLA2G4A phospholipase A2 group IVA gene DOID:0080820 occupational asthma ISO RGD:735872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27504716 11921827 PLA2G4A phospholipase A2 group IVA gene DOID:11394 adult respiratory distress syndrome ISO RGD:735872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10881173 11921827 PLA2G4A phospholipase A2 group IVA gene DOID:12849 autistic disorder ISO RGD:735872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15301788 11921827 PLA2G4A phospholipase A2 group IVA gene DOID:1540 parathyroid carcinoma ISO RGD:735872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11921827 PLA2G4A phospholipase A2 group IVA gene DOID:1724 duodenal ulcer ISO RGD:735872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18451993 11921827 PLA2G4A phospholipase A2 group IVA gene DOID:2218 blood platelet disease ISO RGD:735872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18451993 11921827 PLA2G4A phospholipase A2 group IVA gene DOID:2316 brain ischemia ISO RGD:67366 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:15306117|REF_RGD_ID:1642465 11921827 PLA2G4A phospholipase A2 group IVA gene DOID:2615 papilloma ISO RGD:67366 D RGD:9068941 20200609 RGD associated with Bladder Neoplasms;mRNA:increased expression:bladder PMID:16621493|REF_RGD_ID:1642457 11921827 PLA2G4A phospholipase A2 group IVA gene DOID:2671 transitional cell carcinoma ISO RGD:67366 D RGD:9068941 20200609 RGD mRNA:increased expression:bladder PMID:16621493|REF_RGD_ID:1642457 11921827 PLA2G4A phospholipase A2 group IVA gene DOID:2723 dermatitis ISO RGD:735872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18287786 11921827 PLA2G4A phospholipase A2 group IVA gene DOID:2841 asthma ISO RGD:67366 D RGD:9068941 20200609 RGD PMID:15557087|REF_RGD_ID:1642462 11921827 PLA2G4A phospholipase A2 group IVA gene DOID:332 amyotrophic lateral sclerosis ISO RGD:735872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15816863 11921827 PLA2G4A phospholipase A2 group IVA gene DOID:4195 hyperglycemia ISO RGD:67366 D RGD:9068941 20200609 RGD protein:increased activity:vascular associated smooth muscle cell PMID:7635966|REF_RGD_ID:1642443 11921827 PLA2G4A phospholipase A2 group IVA gene DOID:630 genetic disease ISO RGD:735872 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11921827 PLA2G4A phospholipase A2 group IVA gene DOID:655 inherited metabolic disorder ISO RGD:735872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18451993 11921827 PLA2G4A phospholipase A2 group IVA gene DOID:9000368 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets ISO RGD:735872 D RGD:7240710 20190424 OMIM 11921827 PLA2G4A phospholipase A2 group IVA gene DOID:9000368 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets ISO RGD:735872 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS | ClinVar Annotator: match by term: PHOSPHOLIPASE A2, GROUP IVA, DEFICIENCY OF PMID:18451993|PMID:23268370|PMID:25102815|PMID:25741868|PMID:28492532 11921827 PLA2G4A phospholipase A2 group IVA gene DOID:9000972 Fever ISO RGD:67366 D RGD:9068941 20200609 RGD protein:increased phosphorylation:lung PMID:16933973|REF_RGD_ID:1642453 11921827 PLA2G4A phospholipase A2 group IVA gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:67366 D RGD:9068941 20200609 RGD protein:increased activity:liver PMID:17459512|REF_RGD_ID:1642445 11921827 PLA2G4A phospholipase A2 group IVA gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11921827 PLA2G4A phospholipase A2 group IVA gene DOID:9002211 Hyperalgesia ISO RGD:67366 D RGD:9068941 20200609 RGD PMID:16203828|REF_RGD_ID:1642461 11921827 PLA2G4A phospholipase A2 group IVA gene DOID:9002498 Wallerian Degeneration ISO RGD:11116 D RGD:9068941 20200609 RGD PMID:18718965|REF_RGD_ID:6482738 11921827 PLA2G4A phospholipase A2 group IVA gene DOID:9002498 Wallerian Degeneration ISO RGD:67366 D RGD:9068941 20200609 RGD PMID:14664823|REF_RGD_ID:1642469 11921827 PLA2G4A phospholipase A2 group IVA gene DOID:9004009 Reperfusion Injury ISO RGD:67366 D RGD:9068941 20200609 RGD protein:increased activity:alveolar macrophage PMID:1642455|REF_RGD_ID:1642456 11921827 PLA2G4A phospholipase A2 group IVA gene DOID:9004484 Sepsis ISO RGD:67366 D RGD:9068941 20200609 RGD protein:increased activity:liver PMID:9879654|REF_RGD_ID:1642481 11921827 PLA2G4A phospholipase A2 group IVA gene DOID:9005372 Inflammation ISO RGD:67366 D RGD:9068941 20200609 RGD PMID:17305324|REF_RGD_ID:1642446 11921827 PLA2G4A phospholipase A2 group IVA gene DOID:9006646 Metabolic Syndrome ISO RGD:67366 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:21172452|REF_RGD_ID:6482748 11921827 PLA2G4A phospholipase A2 group IVA gene DOID:9007730 Burns ISO RGD:67366 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:17483741|REF_RGD_ID:1642444 11921827 PLA2G4A phospholipase A2 group IVA gene DOID:9008939 Breast Neoplasms ISO RGD:735872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21119660 11921827 PLA2G4A phospholipase A2 group IVA gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11921854 HDAC5 histone deacetylase 5 gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1604649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 11921854 HDAC5 histone deacetylase 5 gene DOID:14557 primary pulmonary hypertension ISO RGD:1604649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22711276 11921854 HDAC5 histone deacetylase 5 gene DOID:1596 depressive disorder ISO RGD:619980 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus: PMID:24495952|REF_RGD_ID:9681459 11921854 HDAC5 histone deacetylase 5 gene DOID:3021 acute kidney failure ISO RGD:619980 D RGD:9068941 20200609 RGD PMID:21416250|REF_RGD_ID:10047111 11921854 HDAC5 histone deacetylase 5 gene DOID:3021 acute kidney failure treatment ISO RGD:1551616 D RGD:9068941 20200609 RGD associated with sepsis; PMID:22933299|REF_RGD_ID:9590257 11921854 HDAC5 histone deacetylase 5 gene DOID:3312 bipolar disorder ISO RGD:1604649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 11921854 HDAC5 histone deacetylase 5 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:619980 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:brain: PMID:23480850|REF_RGD_ID:9681449 11921854 HDAC5 histone deacetylase 5 gene DOID:418 systemic scleroderma ISO RGD:1604649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27482699 11921854 HDAC5 histone deacetylase 5 gene DOID:507 adjustment disorder ISO RGD:1604649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17988634 11921854 HDAC5 histone deacetylase 5 gene DOID:630 genetic disease ISO RGD:1604649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921854 HDAC5 histone deacetylase 5 gene DOID:6432 pulmonary hypertension ISO RGD:1604649 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:22711276|REF_RGD_ID:9590133 11921854 HDAC5 histone deacetylase 5 gene DOID:6432 pulmonary hypertension ISO RGD:619980 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:22711276|REF_RGD_ID:9590133 11921854 HDAC5 histone deacetylase 5 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1551616 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:24717296|REF_RGD_ID:9590311 11921854 HDAC5 histone deacetylase 5 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1604649 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:24717296|REF_RGD_ID:9590311 11921854 HDAC5 histone deacetylase 5 gene DOID:9002165 Diabetic Nephropathies ISO RGD:619980 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:24717296|REF_RGD_ID:9590311 11921854 HDAC5 histone deacetylase 5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1604649 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17988634 11921854 HDAC5 histone deacetylase 5 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:619980 D RGD:9068941 20200609 RGD protein:increased expression:Right Ventricular: PMID:22711276|REF_RGD_ID:9590133 11921854 HDAC5 histone deacetylase 5 gene DOID:9256 colorectal cancer ISO RGD:1604649 D RGD:9068941 20200609 RGD mRNA:increased expression:colon: PMID:23724067|REF_RGD_ID:9590193 11921892 PLPP1 phospholipid phosphatase 1 gene DOID:630 genetic disease ISO RGD:1344834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921892 PLPP1 phospholipid phosphatase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1344834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11921892 PLPP1 phospholipid phosphatase 1 gene DOID:9000918 Disease Progression ISO RGD:1344834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11921892 PLPP1 phospholipid phosphatase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11921903 CATIP ciliogenesis associated TTC17 interacting protein gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1602043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11921903 CATIP ciliogenesis associated TTC17 interacting protein gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1602043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11921903 CATIP ciliogenesis associated TTC17 interacting protein gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1602043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11921903 CATIP ciliogenesis associated TTC17 interacting protein gene DOID:0112335 spermatogenic failure 54 ISO RGD:1602043 D RGD:7240710 20210623 OMIM 11921903 CATIP ciliogenesis associated TTC17 interacting protein gene DOID:0112335 spermatogenic failure 54 ISO RGD:1602043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 54 PMID:32503832 11921903 CATIP ciliogenesis associated TTC17 interacting protein gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1602043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11921903 CATIP ciliogenesis associated TTC17 interacting protein gene DOID:630 genetic disease ISO RGD:1602043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921903 CATIP ciliogenesis associated TTC17 interacting protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11921916 LOC100987236 signal recognition particle subunit SRP54 gene DOID:0060479 Shwachman-Diamond syndrome ISO RGD:1350478 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 PMID:25741868|PMID:28492532|PMID:28972538|PMID:29914977 11921916 LOC100987236 signal recognition particle subunit SRP54 gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:1350478 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 PMID:28492532 11921916 LOC100987236 signal recognition particle subunit SRP54 gene DOID:0112135 severe congenital neutropenia 8 ISO RGD:1350478 D RGD:7240710 20200226 OMIM 11921916 LOC100987236 signal recognition particle subunit SRP54 gene DOID:0112135 severe congenital neutropenia 8 ISO RGD:1350478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 8, autosomal dominant PMID:28492532|PMID:28972538|PMID:29914977 11921916 LOC100987236 signal recognition particle subunit SRP54 gene DOID:630 genetic disease ISO RGD:1350478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28972538|PMID:29914977|PMID:34549814 11921916 LOC100987236 signal recognition particle subunit SRP54 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1350478 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11921939 SYP synaptophysin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:737494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11921939 SYP synaptophysin gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:737494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 11921939 SYP synaptophysin gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:737494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11921939 SYP synaptophysin gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:737494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 11921939 SYP synaptophysin gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:737494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23516525 11921939 SYP synaptophysin gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:737494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11921939 SYP synaptophysin gene DOID:0112035 non-syndromic X-linked intellectual disability 96 ISO RGD:737494 D RGD:7240710 20180130 OMIM 11921939 SYP synaptophysin gene DOID:0112035 non-syndromic X-linked intellectual disability 96 ISO RGD:737494 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 96 PMID:19377476|PMID:23966691|PMID:25741868 11921939 SYP synaptophysin gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:737494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11921939 SYP synaptophysin gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:737494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 11921939 SYP synaptophysin gene DOID:10652 Alzheimer's disease ISO RGD:11373 D RGD:9068941 20200609 RGD denntate gyrus, hippocampus, entorhinal cortex PMID:20847448|REF_RGD_ID:13506238 11921939 SYP synaptophysin gene DOID:10652 Alzheimer's disease ISO RGD:3802 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:hippocampus, temporal cortex PMID:20847448|REF_RGD_ID:13506238 11921939 SYP synaptophysin gene DOID:10652 Alzheimer's disease ISO RGD:737494 D RGD:9068941 20200609 RGD protein:decreased expression:dentate gyrus molecular layer,hippocampus,entorhinal, tempocampal corteces: PMID:20847448|REF_RGD_ID:13506238 11921939 SYP synaptophysin gene DOID:12849 autistic disorder ISO RGD:737494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11921939 SYP synaptophysin gene DOID:3908 lung non-small cell carcinoma ISO RGD:737494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21595568 11921939 SYP synaptophysin gene DOID:5419 schizophrenia ISO RGD:737494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11483314 11921939 SYP synaptophysin gene DOID:5463 cochlear disease ISO RGD:8768375 D RGD:9068941 20200609 RGD PMID:12429223|REF_RGD_ID:11554034 11921939 SYP synaptophysin gene DOID:630 genetic disease ISO RGD:737494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921939 SYP synaptophysin gene DOID:8927 learning disability ISO RGD:737494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21295146 11921939 SYP synaptophysin gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:737494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19377476 11921939 SYP synaptophysin gene DOID:9008023 Memory Disorders ISO RGD:737494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21295146 11921950 ESF1 ESF1 nucleolar pre-rRNA processing protein homolog gene DOID:630 genetic disease ISO RGD:1314468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921968 LOC100988625 keratin-associated protein 10-3 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1354095 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 11921968 LOC100988625 keratin-associated protein 10-3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1354095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11921968 LOC100988625 keratin-associated protein 10-3 gene DOID:0110266 cataract 9 multiple types ISO RGD:1354095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11921968 LOC100988625 keratin-associated protein 10-3 gene DOID:12849 autistic disorder ISO RGD:1354095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11921968 LOC100988625 keratin-associated protein 10-3 gene DOID:2661 myoepithelioma ISO RGD:1354095 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11921968 LOC100988625 keratin-associated protein 10-3 gene DOID:630 genetic disease ISO RGD:1354095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921968 LOC100988625 keratin-associated protein 10-3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1354095 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11921968 LOC100988625 keratin-associated protein 10-3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11921968 LOC100988625 keratin-associated protein 10-3 gene DOID:9263 homocystinuria ISO RGD:1354095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11921968 LOC100988625 keratin-associated protein 10-3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1354095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11921975 SHROOM3 shroom family member 3 gene DOID:630 genetic disease ISO RGD:1602873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921975 SHROOM3 shroom family member 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1602873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 11921975 SHROOM3 shroom family member 3 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1602873 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11921998 SCAP SREBF chaperone gene DOID:630 genetic disease ISO RGD:1604827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11921998 SCAP SREBF chaperone gene DOID:684 hepatocellular carcinoma ISO RGD:1604827 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563831 11921998 SCAP SREBF chaperone gene DOID:9000808 Hypercholesterolemia ISO RGD:1309378 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:16741953|REF_RGD_ID:1581819 11921998 SCAP SREBF chaperone gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1604827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11921998 SCAP SREBF chaperone gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1309378 D RGD:9068941 20200609 RGD PMID:20973890|REF_RGD_ID:5490977 11922025 TST thiosulfate sulfurtransferase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:735470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11922025 TST thiosulfate sulfurtransferase gene DOID:0060180 colitis ISO RGD:735470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19647029 11922025 TST thiosulfate sulfurtransferase gene DOID:0070194 autosomal recessive chronic granulomatous disease 3 ISO RGD:735470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III PMID:28492532 11922025 TST thiosulfate sulfurtransferase gene DOID:0090036 myoclonic dystonia 26 ISO RGD:735470 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11922025 TST thiosulfate sulfurtransferase gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:735470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11922025 TST thiosulfate sulfurtransferase gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11922025 TST thiosulfate sulfurtransferase gene DOID:630 genetic disease ISO RGD:735470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11922025 TST thiosulfate sulfurtransferase gene DOID:684 hepatocellular carcinoma ISO RGD:735470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11922025 TST thiosulfate sulfurtransferase gene DOID:9002304 Prostatic Neoplasms ISO RGD:735470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11922035 MEF2B myocyte enhancer factor 2B gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1351770 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 11922035 MEF2B myocyte enhancer factor 2B gene DOID:630 genetic disease ISO RGD:1351770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11922035 MEF2B myocyte enhancer factor 2B gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1351770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11922054 MAB21L4 mab-21 like 4 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1605342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11922054 MAB21L4 mab-21 like 4 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1605342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11922054 MAB21L4 mab-21 like 4 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1605342 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11922054 MAB21L4 mab-21 like 4 gene DOID:1059 intellectual disability ISO RGD:1605342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11922054 MAB21L4 mab-21 like 4 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1605342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11922066 PIPOX pipecolic acid and sarcosine oxidase gene DOID:630 genetic disease ISO RGD:1322755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11922066 PIPOX pipecolic acid and sarcosine oxidase gene DOID:906 peroxisomal disease ISO RGD:1322755 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10642506 11922078 LOC100993221 transmembrane protein 99 (putative) gene DOID:4323 epidermolytic acanthoma ISO RGD:1603177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolytic acanthoma PMID:1381287|PMID:21271994|PMID:22930352|PMID:25741868|PMID:26176760|PMID:28492532|PMID:28532675|PMID:32045015|PMID:7508181|PMID:7509230|PMID:7512983 11922078 LOC100993221 transmembrane protein 99 (putative) gene DOID:4603 epidermolytic hyperkeratosis ISO RGD:1603177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma PMID:1380725|PMID:1381287|PMID:16505000|PMID:19474805|PMID:20302579|PMID:21271994|PMID:2182100|PMID:22930352|PMID:24001792|PMID:25741868|PMID:26176760|PMID:28492532|PMID:28532675|PMID:32045015|PMID:7508181|PMID:7509230|PMID:7512983|PMID:7526210 11922078 LOC100993221 transmembrane protein 99 (putative) gene DOID:630 genetic disease ISO RGD:1603177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11922078 LOC100993221 transmembrane protein 99 (putative) gene DOID:9005778 Annular Epidermolytic Ichthyosis ISO RGD:1603177 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Annular epidermolytic ichthyosis PMID:22035476|PMID:25741868 11922078 LOC100993221 transmembrane protein 99 (putative) gene DOID:9006224 Reticular Erythrokeratoderma ISO RGD:1603177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital reticular ichthyosiform erythroderma PMID:20798280|PMID:25210931|PMID:25741868|PMID:27208707|PMID:27291450|PMID:31638346|PMID:32407542|PMID:34008892|PMID:9418775 11922085 FANCB FA complementation group B gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1351449 D RGD:9068941 20200609 RGD PMID:17409780|REF_RGD_ID:11049143 11922085 FANCB FA complementation group B gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1351449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 11922085 FANCB FA complementation group B gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1351449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia, group A PMID:25741868|PMID:28492532 11922085 FANCB FA complementation group B gene DOID:0111098 Fanconi anemia complementation group B ISO RGD:1351449 D RGD:7240710 20180130 OMIM 11922085 FANCB FA complementation group B gene DOID:0111098 Fanconi anemia complementation group B ISO RGD:1351449 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: FANCONI PANCYTOPENIA, TYPE 2 | ClinVar Annotator: match by term: Fanconi anemia complementation group B PMID:15502827|PMID:16679491|PMID:17924555|PMID:21910217|PMID:23613520|PMID:24033266|PMID:25168418|PMID:25741868|PMID:28492532|PMID:32106311|PMID:32546565|PMID:8368240 11922085 FANCB FA complementation group B gene DOID:0111140 IGSF1 deficiency syndrome ISO RGD:1351449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement PMID:24033266|PMID:25741868|PMID:28492532 11922085 FANCB FA complementation group B gene DOID:0111766 X-linked VACTERL association ISO RGD:1351449 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H PMID:24033266|PMID:25741868|PMID:28492532|PMID:32546565 11922085 FANCB FA complementation group B gene DOID:12849 autistic disorder ISO RGD:1351449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11922085 FANCB FA complementation group B gene DOID:13636 Fanconi anemia ISO RGD:1351449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia PMID:15502827|PMID:16199547|PMID:17576681|PMID:23613520|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32410215|PMID:32546565|PMID:9536098 11922085 FANCB FA complementation group B gene DOID:1612 breast cancer ISO RGD:1351449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532 11922085 FANCB FA complementation group B gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1351449 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:20332657|REF_RGD_ID:11344903 11922085 FANCB FA complementation group B gene DOID:630 genetic disease ISO RGD:1351449 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11922085 FANCB FA complementation group B gene DOID:9001972 Syndromic X-Linked Intellectual Disability Pilorge type ISO RGD:1351449 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type PMID:20479760|PMID:25741868|PMID:28588452 11922085 FANCB FA complementation group B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11922112 C8H8orf74 chromosome 8 C8orf74 homolog gene DOID:630 genetic disease ISO RGD:1606427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11922112 C8H8orf74 chromosome 8 C8orf74 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11922113 PALM3 paralemmin 3 gene DOID:630 genetic disease ISO RGD:2803038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11922141 ZNF350 zinc finger protein 350 gene DOID:630 genetic disease ISO RGD:1342631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11922164 PPCS phosphopantothenoylcysteine synthetase gene DOID:0081159 dilated cardiomyopathy 2C ISO RGD:1605955 D RGD:7240710 20190315 OMIM 11922164 PPCS phosphopantothenoylcysteine synthetase gene DOID:0081159 dilated cardiomyopathy 2C ISO RGD:1605955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2c PMID:25741868|PMID:28492532|PMID:29754768 11922164 PPCS phosphopantothenoylcysteine synthetase gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11922164 PPCS phosphopantothenoylcysteine synthetase gene DOID:630 genetic disease ISO RGD:1605955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:10598665|PMID:12460918|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18794081|PMID:18948947|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21263000|PMID:21305640|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:2278970|PMID:23414587|PMID:23431193|PMID:23515407|PMID:2407301|PMID:24284627|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:2989702|PMID:3122217|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:0050523 adult T-cell leukemia/lymphoma disease_progression ISO RGD:11018 D RGD:9068941 20200609 RGD PMID:21586752|REF_RGD_ID:11535055 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:0050902 medulloblastoma ISO RGD:735648 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:16291983|PMID:17332249|PMID:17517660|PMID:18375819|PMID:18390968|PMID:18633438|PMID:19657110|PMID:19775298|PMID:20130576|PMID:20179705|PMID:21079152|PMID:22962325|PMID:23414587|PMID:23431193|PMID:2407301|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:27993330|PMID:2989702|PMID:3102434|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:0050908 myelodysplastic syndrome ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:10598665|PMID:12460918|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21263000|PMID:21305640|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:2278970|PMID:22962325|PMID:23134356|PMID:23334668|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23614898|PMID:24033266|PMID:2407301|PMID:24284627|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:735648 D RGD:9068941 20200609 RGD PMID:23708912|REF_RGD_ID:11535060 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:0060058 lymphoma ISO RGD:735648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9205081 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:735648 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:16291983|PMID:17332249|PMID:17517660|PMID:18375819|PMID:18390968|PMID:18633438|PMID:19657110|PMID:19775298|PMID:20130576|PMID:20179705|PMID:21079152|PMID:22962325|PMID:23414587|PMID:23431193|PMID:2407301|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:27993330|PMID:2989702|PMID:3102434|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:0060318 acute promyelocytic leukemia ISO RGD:735648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:0060578 Noonan syndrome 1 ISO RGD:735648 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:17671181|PMID:19966803|PMID:21263000|PMID:22220252|PMID:22499344|PMID:22855653|PMID:23325582|PMID:23708912|PMID:24033266|PMID:24806883|PMID:25741868|PMID:26467218|PMID:26980726|PMID:27069254|PMID:27121720|PMID:27276561|PMID:28492532|PMID:28594414|PMID:29692343|PMID:29752777|PMID:31219622 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:0060584 Noonan syndrome 6 ISO RGD:735648 D RGD:7240710 20180130 OMIM 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:0060584 Noonan syndrome 6 ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Noonan syndrome 6 PMID:12460918|PMID:16273091|PMID:16291983|PMID:16434492|PMID:17332249|PMID:17517660|PMID:17671181|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21263000|PMID:21305640|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22220252|PMID:22407852|PMID:22499344|PMID:22761467|PMID:2278970|PMID:22855653|PMID:22962325|PMID:23134356|PMID:23325582|PMID:23334668|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:23708912|PMID:24033266|PMID:2407301|PMID:24284627|PMID:24370118|PMID:24806883|PMID:25157968|PMID:25741868|PMID:26467218|PMID:26619011|PMID:26661077|PMID:2674680|PMID:26980726|PMID:27069254|PMID:27121720|PMID:27276561|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:29692343|PMID:29752777|PMID:2989702|PMID:30417923|PMID:3102434|PMID:31219622|PMID:3122217|PMID:32888943|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:0070004 myeloid neoplasm disease_progression ISO RGD:11018 D RGD:9068941 20200609 RGD PMID:21586752|REF_RGD_ID:11535055 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:0080188 chronic myelomonocytic leukemia onset ISO RGD:11018 D RGD:9068941 20200609 RGD PMID:26082490|REF_RGD_ID:11535058 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:0080690 RASopathy ISO RGD:735648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10598665|PMID:10821536|PMID:12460918|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:17332249|PMID:17384584|PMID:17576681|PMID:17671181|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22220252|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:2278970|PMID:22855653|PMID:23325582|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:23708912|PMID:24033266|PMID:24148783|PMID:24284627|PMID:24671188|PMID:24806883|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26467218|PMID:26619011|PMID:26661077|PMID:2674680|PMID:26821351|PMID:26980726|PMID:27050078|PMID:27069254|PMID:27121720|PMID:27276561|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:29692343|PMID:3122217|PMID:8120410|PMID:9536098 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:0080690 RASopathy ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10598665|PMID:10821536|PMID:12460918|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:17332249|PMID:17384584|PMID:17576681|PMID:17671181|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22220252|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:2278970|PMID:22855653|PMID:23325582|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:23708912|PMID:24033266|PMID:24148783|PMID:24284627|PMID:24671188|PMID:24806883|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26467218|PMID:26619011|PMID:26661077|PMID:2674680|PMID:26821351|PMID:26980726|PMID:27050078|PMID:27069254|PMID:27121720|PMID:27276561|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:29692343|PMID:29752777|PMID:31219622|PMID:3122217|PMID:8120410|PMID:9536098 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:735648 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome PMID:16291983|PMID:17332249|PMID:17517660|PMID:18375819|PMID:18390968|PMID:19657110|PMID:19775298|PMID:20130576|PMID:20179705|PMID:21079152|PMID:23414587|PMID:23431193|PMID:2407301|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:27993330|PMID:2989702|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:735648 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:12460918|PMID:16273091|PMID:16291983|PMID:16434492|PMID:17699718|PMID:18390968|PMID:18948947|PMID:19075190|PMID:19657110|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21305640|PMID:21729679|PMID:21829508|PMID:22407852|PMID:2278970|PMID:23134356|PMID:23334668|PMID:23414587|PMID:23515407|PMID:23614898|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:28594414|PMID:30417923|PMID:3122217|PMID:32888943|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:0110117 autoimmune lymphoproliferative syndrome type 4 ISO RGD:735648 D RGD:7240710 20180130 OMIM 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:0110117 autoimmune lymphoproliferative syndrome type 4 ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: RAS-associated autoimmune leukoproliferative disorder PMID:12460918|PMID:16273091|PMID:16291983|PMID:16434492|PMID:17332249|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19775298|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21305640|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:2278970|PMID:23414587|PMID:23431193|PMID:23515407|PMID:2407301|PMID:24284627|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:2989702|PMID:3122217|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:735648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:0111162 epidermal nevus ISO RGD:735648 D RGD:7240710 20180130 OMIM 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:0111162 epidermal nevus ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epidermal nevus | ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC PMID:12460918|PMID:12727991|PMID:14508525|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17332249|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23392294|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24284627|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:28098151|PMID:28492532|PMID:28594414|PMID:3122217|PMID:6587382|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:0111359 large congenital melanocytic nevus ISO RGD:735648 D RGD:7240710 20180130 OMIM 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:0111359 large congenital melanocytic nevus ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital giant melanocytic nevus | ClinVar Annotator: match by term: Large congenital melanocytic nevus PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3102434|PMID:3122217|PMID:6587382|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:0111530 linear nevus sebaceous syndrome ISO RGD:735648 D RGD:7240710 20180130 OMIM 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:0111530 linear nevus sebaceous syndrome ISO RGD:735648 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Linear nevus sebaceous PMID:12460918|PMID:12727991|PMID:14508525|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18948947|PMID:19075190|PMID:19880792|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23392294|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:3122217|PMID:6587382|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:10283 prostate cancer disease_progression ISO RGD:735648 D RGD:9068941 20200609 RGD PMID:18334737|REF_RGD_ID:2314837 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:1040 chronic lymphocytic leukemia ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:1240 leukemia onset ISO RGD:11018 D RGD:9068941 20200609 RGD PMID:27109513|REF_RGD_ID:11535059 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:14566 disease of cellular proliferation ISO RGD:735648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasms PMID:16291983|PMID:18390968|PMID:19657110|PMID:20130576|PMID:20179705|PMID:23414587|PMID:25157968|PMID:26619011|PMID:2674680|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:1520 colon carcinoma ISO RGD:735648 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colon carcinoma PMID:16291983|PMID:18390968|PMID:18633438|PMID:20130576|PMID:20179705|PMID:22962325|PMID:23414587|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:3102434|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:1909 melanoma ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:24918823|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:1984 rectal benign neoplasm ISO RGD:735648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3102434 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:2234 focal epilepsy ISO RGD:735648 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:25741868|PMID:29493581 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:2355 anemia ISO RGD:735648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia PMID:32581362 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:2671 transitional cell carcinoma ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17332249|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28492532|PMID:28780248|PMID:2989702|PMID:3102434|PMID:3122217|PMID:6587382|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:3068 glioblastoma ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:3490 Noonan syndrome ISO RGD:735648 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:10598665|PMID:12460918|PMID:14982869|PMID:15046639|PMID:15831708|PMID:16273091|PMID:16291983|PMID:16518851|PMID:17384584|PMID:17671181|PMID:17699718|PMID:18390968|PMID:18794081|PMID:18952898|PMID:19047918|PMID:19657110|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21263000|PMID:21305640|PMID:21729679|PMID:21829508|PMID:22220252|PMID:22855653|PMID:23325582|PMID:23414587|PMID:23708912|PMID:24033266|PMID:24806883|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26980726|PMID:27069254|PMID:27121720|PMID:27276561|PMID:28492532|PMID:28594414|PMID:29692343|PMID:29752777|PMID:31219622|PMID:32581362|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:3490 Noonan syndrome ISO RGD:735648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:10598665|PMID:12460918|PMID:14982869|PMID:15046639|PMID:15831708|PMID:16273091|PMID:16291983|PMID:16518851|PMID:17384584|PMID:17671181|PMID:17699718|PMID:18390968|PMID:18794081|PMID:18952898|PMID:19047918|PMID:19657110|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21263000|PMID:21305640|PMID:21729679|PMID:21829508|PMID:22220252|PMID:22855653|PMID:23325582|PMID:23414587|PMID:23708912|PMID:24033266|PMID:24806883|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26980726|PMID:27069254|PMID:27121720|PMID:27276561|PMID:28098151|PMID:28492532|PMID:28594414|PMID:29692343|PMID:29752777|PMID:31219622|PMID:32581362|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:3512 neurofibrosarcoma ISO RGD:735648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16239399 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:363 uterine cancer ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:30417923|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:3717 gastric adenocarcinoma ISO RGD:735648 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28492532|PMID:28594414|PMID:28780248|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:3717 gastric adenocarcinoma ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:3908 lung non-small cell carcinoma ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Non-small cell lung cancer | ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:30417923|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:3910 lung adenocarcinoma ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:3948 adrenocortical carcinoma ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:4362 cervical cancer ISO RGD:735648 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix PMID:14984964|REF_RGD_ID:2314838 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:4450 renal cell carcinoma ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:630 genetic disease ISO RGD:735648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:6536 plasma cell neoplasm ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:735648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17517660 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:732909 D RGD:9068941 20200609 RGD human gene in mouse model PMID:21993994|REF_RGD_ID:14696775 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma severity ISO RGD:735648 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (mouse, human) PMID:30685691|REF_RGD_ID:14696793 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:686 liver carcinoma ISO RGD:735648 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:3018923|REF_RGD_ID:14975106 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:707 B-cell lymphoma ISO RGD:735648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14633661 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:769 neuroblastoma ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:10821536|PMID:12460918|PMID:15899789|PMID:16273091|PMID:16291983|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19657110|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21729679|PMID:21829508|PMID:22718121|PMID:22761467|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24148783|PMID:24671188|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:8552 chronic myeloid leukemia ISO RGD:735648 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia PMID:12460918|PMID:16273091|PMID:16291983|PMID:16434492|PMID:17699718|PMID:18390968|PMID:18948947|PMID:19075190|PMID:19657110|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21305640|PMID:21729679|PMID:21829508|PMID:22407852|PMID:2278970|PMID:23134356|PMID:23334668|PMID:23414587|PMID:23515407|PMID:23614898|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:28594414|PMID:30417923|PMID:3122217|PMID:32888943|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:8923 skin melanoma ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9000217 Stomach Neoplasms ISO RGD:735648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of stomach PMID:25157968 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9001039 Leukocytosis ISO RGD:735648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:735648 D RGD:9068941 20200609 RGD human gene in mouse model PMID:16286660|REF_RGD_ID:14975105 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9002170 Experimental Neoplasms ISO RGD:735648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9205081 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9002457 Experimental Arthritis ISO RGD:3205 D RGD:9068941 20200609 RGD PMID:18706093|REF_RGD_ID:2300006 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9002650 Sebaceous Nevus Syndrome and Hemimegalencephaly ISO RGD:735648 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly PMID:12460918|PMID:12727991|PMID:14508525|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18948947|PMID:19075190|PMID:19880792|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23392294|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:3122217|PMID:6587382|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9002720 Splenomegaly ISO RGD:735648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9003571 Paraproteinemias ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9004441 Experimental Leukemia induced ISO RGD:3205 D RGD:9068941 20200609 RGD DNA:transversion mutation, loss of heterozygosity:cds: PMID:9142215|REF_RGD_ID:11535063 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9004547 Thyroid Neoplasms ISO RGD:735648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:12460918|PMID:16291983|PMID:18390968|PMID:18948947|PMID:19657110|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:21576590|PMID:22761467|PMID:23076151|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24370118|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:28492532|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9004672 Neurocutaneous Melanosis ISO RGD:735648 D RGD:7240710 20180130 OMIM 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9004672 Neurocutaneous Melanosis ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurocutaneous melanosis syndrome PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:735648 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9005120 Pigmented Nevus ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: PIGMENTED MOLES PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3102434|PMID:3122217|PMID:6587382|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nasopharyngeal Neoplasms PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9005474 Experimental Sarcoma ISO RGD:3205 D RGD:9068941 20200609 RGD DNA:transversion:exon p.Q61L (human) PMID:11295286|REF_RGD_ID:1598680 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:735648 D RGD:7240710 20180130 OMIM 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:735648 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 PMID:12460918|PMID:12727991|PMID:14508525|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18948947|PMID:19075190|PMID:19880792|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23392294|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:3122217|PMID:6587382|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9006618 Liver Metastasis ISO RGD:735648 D RGD:9068941 20200609 RGD human gene in a mouse model;DNA:missense mutations:cds:p.G12V, p.Q61K (human) PMID:26799184|REF_RGD_ID:14696774 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9006618 Liver Metastasis susceptibility ISO RGD:735648 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:mutations:exons (human) PMID:28011498|REF_RGD_ID:14696792 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9006618 Liver Metastasis susceptibility ISO RGD:735648 D RGD:9068941 20200609 RGD associated with melanoma;DNA:mutations: exons (human) PMID:28787433|REF_RGD_ID:14696791 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9007364 Mouth Neoplasms disease_progression ISO RGD:3205 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17708355|REF_RGD_ID:2303822 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9007502 Brain Neoplasms ISO RGD:735648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brain Neoplasms PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9007502 Brain Neoplasms ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Brain Neoplasms PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9008443 Colorectal Neoplasms ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:11018 D RGD:9068941 20200609 RGD PMID:18952898|REF_RGD_ID:11070616 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:735648 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: PMID:25204082|REF_RGD_ID:11535045 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9256 colorectal cancer ISO RGD:735648 D RGD:7240710 20200226 OMIM 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9256 colorectal cancer ISO RGD:735648 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:17671181|PMID:22220252|PMID:23325582|PMID:23708912|PMID:24806883|PMID:25741868|PMID:26980726|PMID:27069254|PMID:27121720|PMID:27276561|PMID:28492532|PMID:28594414|PMID:29692343 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9446 cholangitis ISO RGD:735648 D RGD:9068941 20200609 RGD mRNA:increased expression:cd4-positive helper T cells (human) PMID:30690835|REF_RGD_ID:14975104 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9538 multiple myeloma ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9538 multiple myeloma treatment ISO RGD:735648 D RGD:9068941 20200609 RGD DNA:mutation: : PMID:24335104|REF_RGD_ID:11535049 11922198 NRAS NRAS proto-oncogene, GTPase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:735648 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: PMID:25204082|REF_RGD_ID:11535045 11922209 GAR1 GAR1 ribonucleoprotein gene DOID:2729 dyskeratosis congenita ISO RGD:1346713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22299032 11922209 GAR1 GAR1 ribonucleoprotein gene DOID:3910 lung adenocarcinoma ISO RGD:1346713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11922209 GAR1 GAR1 ribonucleoprotein gene DOID:630 genetic disease ISO RGD:1346713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11922209 GAR1 GAR1 ribonucleoprotein gene DOID:74 hematopoietic system disease ISO RGD:1346713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22299032 11922209 GAR1 GAR1 ribonucleoprotein gene DOID:9006205 Animal Disease Models ISO RGD:1346713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11922232 LOC100977441 cytochrome b5 type B gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:735287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11922232 LOC100977441 cytochrome b5 type B gene DOID:630 genetic disease ISO RGD:735287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11922241 SAT2 spermidine/spermine N1-acetyltransferase family member 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1317312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11922241 SAT2 spermidine/spermine N1-acetyltransferase family member 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1317312 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11922241 SAT2 spermidine/spermine N1-acetyltransferase family member 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1317312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11922241 SAT2 spermidine/spermine N1-acetyltransferase family member 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1317312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11922241 SAT2 spermidine/spermine N1-acetyltransferase family member 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1317312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11922241 SAT2 spermidine/spermine N1-acetyltransferase family member 2 gene DOID:630 genetic disease ISO RGD:1317312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11922254 STAG1 STAG1 cohesin complex component gene DOID:0080238 autosomal dominant intellectual developmental disorder 47 ISO RGD:1321827 D RGD:7240710 20190315 OMIM 11922254 STAG1 STAG1 cohesin complex component gene DOID:0080238 autosomal dominant intellectual developmental disorder 47 ISO RGD:1321827 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 47 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 | ClinVar Annotator: match by term: STAG1-Related Disorders | ClinVar Annotator: match by term: STAG1-related disorder PMID:25741868|PMID:25748820|PMID:28119487|PMID:28492532|PMID:30158690 11922254 STAG1 STAG1 cohesin complex component gene DOID:1059 intellectual disability ISO RGD:1321827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28119487 11922254 STAG1 STAG1 cohesin complex component gene DOID:5426 primary ovarian insufficiency ISO RGD:1321827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 11922254 STAG1 STAG1 cohesin complex component gene DOID:630 genetic disease ISO RGD:1321827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25748820|PMID:28119487|PMID:28492532 11922254 STAG1 STAG1 cohesin complex component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11922254 STAG1 STAG1 cohesin complex component gene DOID:9008086 Developmental Disabilities ISO RGD:1321827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741896 11922254 STAG1 STAG1 cohesin complex component gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1321827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 11922291 CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 gene DOID:0111404 Jalili syndrome ISO RGD:1313679 D RGD:7240710 20200228 OMIM 11922291 CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 gene DOID:0111404 Jalili syndrome ISO RGD:1313679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jalili syndrome PMID:15173235|PMID:17576681|PMID:19200525|PMID:19200527|PMID:25741868|PMID:28492532|PMID:30718709|PMID:3236352|PMID:9536098 11922291 CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1313679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:25741868|PMID:28492532|PMID:30718709|PMID:9536098 11922291 CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 gene DOID:1059 intellectual disability ISO RGD:1313679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11922291 CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 gene DOID:5419 schizophrenia ISO RGD:1313679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11922291 CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 gene DOID:630 genetic disease ISO RGD:1313679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11922291 CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 gene DOID:8501 fundus dystrophy ISO RGD:1313679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 11922291 CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 gene DOID:9001979 Amaurosis Hypertrichosis ISO RGD:1313679 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11922305 SELENOT selenoprotein T gene DOID:0050579 glycogen storage disease XV ISO RGD:1602000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 11922305 SELENOT selenoprotein T gene DOID:630 genetic disease ISO RGD:1602000 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11922315 ASAP3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 gene DOID:630 genetic disease ISO RGD:1346642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11922315 ASAP3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1346642 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11922315 ASAP3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 gene DOID:9256 colorectal cancer ISO RGD:1618153 D RGD:9068941 20220811 RGD PMID:28502111|REF_RGD_ID:153305906 11922315 ASAP3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1346642 D RGD:9068941 20220811 RGD mRNA, protein:increased expression:colon (human) PMID:28502111|REF_RGD_ID:153305906 11922350 MAT1A methionine adenosyltransferase 1A gene DOID:0050544 hypermethioninemia ISO RGD:732753 D RGD:7240710 20180130 OMIM 11922350 MAT1A methionine adenosyltransferase 1A gene DOID:0050544 hypermethioninemia ISO RGD:732753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatic methionine adenosyltransferase deficiency | ClinVar Annotator: match by term: Hypermethioninemia PMID:10677294|PMID:11278456|PMID:1527987|PMID:15935930|PMID:16199547|PMID:1683972|PMID:17576681|PMID:18500573|PMID:20675163|PMID:23425511|PMID:23430947|PMID:24231718|PMID:24445979|PMID:25638462|PMID:25741868|PMID:26289392|PMID:26933843|PMID:28186605|PMID:28492532|PMID:28748147|PMID:30389272|PMID:31061746|PMID:32335878|PMID:32496220|PMID:3812486|PMID:4421454|PMID:7229751|PMID:7560086|PMID:7573050|PMID:8770875|PMID:9042912|PMID:9482646|PMID:9536098 11922350 MAT1A methionine adenosyltransferase 1A gene DOID:3213 demyelinating disease ISO RGD:732753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8770875 11922350 MAT1A methionine adenosyltransferase 1A gene DOID:630 genetic disease ISO RGD:732753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26933843|PMID:28492532 11922350 MAT1A methionine adenosyltransferase 1A gene DOID:684 hepatocellular carcinoma ISO RGD:732753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12060674 11922350 MAT1A methionine adenosyltransferase 1A gene DOID:9002221 Hyperplasia ISO RGD:732753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12060674 11922350 MAT1A methionine adenosyltransferase 1A gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11922350 MAT1A methionine adenosyltransferase 1A gene DOID:9252 amino acid metabolic disorder ISO RGD:732753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7560086|PMID:8770875 11922350 MAT1A methionine adenosyltransferase 1A gene DOID:9352 type 2 diabetes mellitus ISO RGD:732753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23665415 11922350 MAT1A methionine adenosyltransferase 1A gene DOID:936 brain disease ISO RGD:732753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8770875 11922350 MAT1A methionine adenosyltransferase 1A gene DOID:9452 fatty liver disease ISO RGD:732753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12060674 11922373 WHRN whirlin gene DOID:0050439 Usher syndrome ISO RGD:1349509 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Usher syndrome PMID:21569298|PMID:24033266|PMID:25741868|PMID:28492532 11922373 WHRN whirlin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1349509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness PMID:30303587 11922373 WHRN whirlin gene DOID:0050630 Aland Island eye disease ISO RGD:1349509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ocular albinism, type II PMID:28492532|PMID:30718709 11922373 WHRN whirlin gene DOID:0110490 autosomal recessive nonsyndromic deafness 31 ISO RGD:1349509 D RGD:7240710 20180130 OMIM 11922373 WHRN whirlin gene DOID:0110490 autosomal recessive nonsyndromic deafness 31 ISO RGD:1349509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 31 | ClinVar Annotator: match by term: WHIRLER, MOUSE, HOMOLOG OF PMID:11973626|PMID:12833159|PMID:15841483|PMID:17576681|PMID:20352026|PMID:21569298|PMID:21654738|PMID:22135276|PMID:22147658|PMID:23804846|PMID:24033266|PMID:25262649|PMID:25404053|PMID:25468891|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30245029|PMID:30311386|PMID:31541171|PMID:9536098 11922373 WHRN whirlin gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:1349509 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome PMID:21569298|PMID:24033266|PMID:25741868|PMID:28492532 11922373 WHRN whirlin gene DOID:0110840 Usher syndrome type 2D ISO RGD:1349509 D RGD:7240710 20180130 OMIM 11922373 WHRN whirlin gene DOID:0110840 Usher syndrome type 2D ISO RGD:1349509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE IID | ClinVar Annotator: match by term: Usher syndrome type 2D PMID:12833159|PMID:15841483|PMID:17171570|PMID:17576681|PMID:20352026|PMID:21569298|PMID:21654738|PMID:22135276|PMID:22147658|PMID:23804846|PMID:24033266|PMID:25262649|PMID:25404053|PMID:25468891|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30245029|PMID:30311386|PMID:9536098 11922373 WHRN whirlin gene DOID:10003 sensorineural hearing loss ISO RGD:1349509 D RGD:9068941 20200609 RGD PMID:12833159|REF_RGD_ID:1580603 11922373 WHRN whirlin gene DOID:10003 sensorineural hearing loss ISO RGD:1553310 D RGD:9068941 20200609 RGD PMID:12833159|REF_RGD_ID:1580603 11922373 WHRN whirlin gene DOID:630 genetic disease ISO RGD:1349509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 11922373 WHRN whirlin gene DOID:8501 fundus dystrophy ISO RGD:1349509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24033266|PMID:27208204|PMID:28492532 11922373 WHRN whirlin gene DOID:9004538 Hearing Loss ISO RGD:1349509 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:20352026|PMID:22135276|PMID:23804846|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 11922373 WHRN whirlin gene DOID:9008681 Deafness ISO RGD:1349509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 11922393 SKIC2 SKI2 subunit of superkiller complex gene DOID:0050553 JMP syndrome ISO RGD:1351044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11922393 SKIC2 SKI2 subunit of superkiller complex gene DOID:0111414 trichohepatoenteric syndrome ISO RGD:1351044 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Trichohepatoenteric syndrome PMID:22444670|PMID:25741868|PMID:27050310|PMID:28492532|PMID:28496993|PMID:29527791|PMID:31681265|PMID:33098347|PMID:33249554|PMID:35607352 11922393 SKIC2 SKI2 subunit of superkiller complex gene DOID:0111416 trichohepatoenteric syndrome 2 ISO RGD:1351044 D RGD:7240710 20180130 OMIM 11922393 SKIC2 SKI2 subunit of superkiller complex gene DOID:0111416 trichohepatoenteric syndrome 2 ISO RGD:1351044 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Trichohepatoenteric syndrome 2 PMID:16199547|PMID:22444670|PMID:24033266|PMID:25326635|PMID:25714577|PMID:25741868|PMID:27050310|PMID:27431780|PMID:28492532|PMID:28496993|PMID:29527791|PMID:31681265|PMID:32313153|PMID:32963807|PMID:33098347|PMID:33249554|PMID:35607352 11922393 SKIC2 SKI2 subunit of superkiller complex gene DOID:630 genetic disease ISO RGD:1351044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11922425 SMS spermine synthase gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1345734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis syndrome PMID:25741868 11922425 SMS spermine synthase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11922425 SMS spermine synthase gene DOID:0060802 syndromic X-linked intellectual disability Snyder type ISO RGD:1345734 D RGD:7240710 20180130 OMIM 11922425 SMS spermine synthase gene DOID:0060802 syndromic X-linked intellectual disability Snyder type ISO RGD:1345734 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SMS-Related Disorder | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Snyder type PMID:14508504|PMID:18550699|PMID:19206178|PMID:19377476|PMID:22612257|PMID:23696453|PMID:23805436|PMID:23897707|PMID:25741868|PMID:25888122|PMID:26174906|PMID:26467025|PMID:26761001|PMID:28492532|PMID:31580924|PMID:33624935|PMID:34177437|PMID:5823961 11922425 SMS spermine synthase gene DOID:1059 intellectual disability ISO RGD:1345734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11922425 SMS spermine synthase gene DOID:12849 autistic disorder ISO RGD:1345734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11922425 SMS spermine synthase gene DOID:630 genetic disease ISO RGD:1345734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19377476|PMID:23805436|PMID:25741868|PMID:25936994|PMID:26467025|PMID:26761001|PMID:28492532|PMID:34177437 11922425 SMS spermine synthase gene DOID:7148 rheumatoid arthritis ISO RGD:1345734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 11922425 SMS spermine synthase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11922425 SMS spermine synthase gene DOID:9008582 Developmental Disease ISO RGD:1345734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11922440 HAPSTR2 HUWE1 associated protein modifying stress responses 2 gene DOID:12849 autistic disorder ISO RGD:38668552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11922480 EEIG1 estrogen-induced osteoclastogenesis regulator 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605493 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11922480 EEIG1 estrogen-induced osteoclastogenesis regulator 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1605493 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11922480 EEIG1 estrogen-induced osteoclastogenesis regulator 1 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1605493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11922480 EEIG1 estrogen-induced osteoclastogenesis regulator 1 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1605493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 11922480 EEIG1 estrogen-induced osteoclastogenesis regulator 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605493 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11922480 EEIG1 estrogen-induced osteoclastogenesis regulator 1 gene DOID:630 genetic disease ISO RGD:1605493 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11922495 JAKMIP3 Janus kinase and microtubule interacting protein 3 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1316212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11922495 JAKMIP3 Janus kinase and microtubule interacting protein 3 gene DOID:630 genetic disease ISO RGD:1316212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11922530 PHAX phosphorylated adaptor for RNA export gene DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy ISO RGD:1346002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy PMID:25741868 11922530 PHAX phosphorylated adaptor for RNA export gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1346002 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11922530 PHAX phosphorylated adaptor for RNA export gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:1346002 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy 11922530 PHAX phosphorylated adaptor for RNA export gene DOID:10487 Hirschsprung's disease ISO RGD:1346002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 11922530 PHAX phosphorylated adaptor for RNA export gene DOID:630 genetic disease ISO RGD:1346002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11922530 PHAX phosphorylated adaptor for RNA export gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11922530 PHAX phosphorylated adaptor for RNA export gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346002 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11922539 C14H14orf180 chromosome 14 C14orf180 homolog gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1603812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11922539 C14H14orf180 chromosome 14 C14orf180 homolog gene DOID:630 genetic disease ISO RGD:1603812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11922539 C14H14orf180 chromosome 14 C14orf180 homolog gene DOID:684 hepatocellular carcinoma ISO RGD:1603812 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11922569 C21H21orf58 chromosome 21 C21orf58 homolog gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1351432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11922569 C21H21orf58 chromosome 21 C21orf58 homolog gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1351432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 11922569 C21H21orf58 chromosome 21 C21orf58 homolog gene DOID:0110266 cataract 9 multiple types ISO RGD:1351432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11922569 C21H21orf58 chromosome 21 C21orf58 homolog gene DOID:12849 autistic disorder ISO RGD:1351432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11922569 C21H21orf58 chromosome 21 C21orf58 homolog gene DOID:630 genetic disease ISO RGD:1351432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11922569 C21H21orf58 chromosome 21 C21orf58 homolog gene DOID:891 progressive myoclonus epilepsy ISO RGD:1351432 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11922569 C21H21orf58 chromosome 21 C21orf58 homolog gene DOID:9263 homocystinuria ISO RGD:1351432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11922569 C21H21orf58 chromosome 21 C21orf58 homolog gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11922613 CALCB calcitonin related polypeptide beta gene DOID:1059 intellectual disability ISO RGD:1350431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11922613 CALCB calcitonin related polypeptide beta gene DOID:630 genetic disease ISO RGD:1350431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11922613 CALCB calcitonin related polypeptide beta gene DOID:6364 migraine ISO RGD:1350431 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:35115687 11922639 NLRP14 NLR family pyrin domain containing 14 gene DOID:0111910 spermatogenic failure ISO RGD:1315283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic Failure PMID:16931801|PMID:20981092|PMID:22344438|PMID:24033266|PMID:25741868 11922639 NLRP14 NLR family pyrin domain containing 14 gene DOID:630 genetic disease ISO RGD:1315283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11922660 TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11922660 TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:1603527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked PMID:17504899|PMID:20685758|PMID:21408189|PMID:26980296|PMID:28492532 11922660 TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1603527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:12632325|PMID:19937601|PMID:22510846|PMID:23453023|PMID:24302611|PMID:24504883|PMID:28492532|PMID:31705731 11922660 TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:12849 autistic disorder ISO RGD:1603527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11922660 TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:630 genetic disease ISO RGD:1603527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11922660 TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1603527 D RGD:9068941 20221117 RGD mRNA, protein:increased expression:synovial (human) PMID:22660635|REF_RGD_ID:155663483 11922660 TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11922660 TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:9074 systemic lupus erythematosus ISO RGD:1603527 D RGD:9068941 20221117 RGD mRNA, protein:increased expression:kidney (human) PMID:22660635|REF_RGD_ID:155663483 11922660 TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1603527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 11922685 UBE2V2 ubiquitin conjugating enzyme E2 V2 gene DOID:0111961 immunodeficiency 26 ISO RGD:1318163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency PMID:28492532 11922692 MRPL40 mitochondrial ribosomal protein L40 gene DOID:0060041 autism spectrum disorder ISO RGD:1343765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11922692 MRPL40 mitochondrial ribosomal protein L40 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1343765 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 11922692 MRPL40 mitochondrial ribosomal protein L40 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1343765 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 11922692 MRPL40 mitochondrial ribosomal protein L40 gene DOID:0111996 immunodeficiency 51 ISO RGD:1343765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11922692 MRPL40 mitochondrial ribosomal protein L40 gene DOID:1059 intellectual disability ISO RGD:1343765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11922692 MRPL40 mitochondrial ribosomal protein L40 gene DOID:11198 DiGeorge syndrome ISO RGD:1343765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 11922692 MRPL40 mitochondrial ribosomal protein L40 gene DOID:11372 megacolon ISO RGD:1343765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11922692 MRPL40 mitochondrial ribosomal protein L40 gene DOID:12583 velocardiofacial syndrome ISO RGD:1343765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 11922692 MRPL40 mitochondrial ribosomal protein L40 gene DOID:12849 autistic disorder ISO RGD:1343765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11922692 MRPL40 mitochondrial ribosomal protein L40 gene DOID:1826 epilepsy ISO RGD:1343765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11922692 MRPL40 mitochondrial ribosomal protein L40 gene DOID:5419 schizophrenia ISO RGD:1343765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11922692 MRPL40 mitochondrial ribosomal protein L40 gene DOID:612 primary immunodeficiency disease ISO RGD:1343765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11922692 MRPL40 mitochondrial ribosomal protein L40 gene DOID:630 genetic disease ISO RGD:1343765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11922692 MRPL40 mitochondrial ribosomal protein L40 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11922692 MRPL40 mitochondrial ribosomal protein L40 gene DOID:9007661 Dwarfism ISO RGD:1343765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11922692 MRPL40 mitochondrial ribosomal protein L40 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1343765 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11922700 ING1 inhibitor of growth family member 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1314890 D RGD:9068941 20200609 RGD squamous cell carcinoma of the head and neck, OMIM:275355 DNA:point_mutation:CDS:G->C in exon 2, amino acid cys215ser PMID:10866301|REF_RGD_ID:1600155 11922700 ING1 inhibitor of growth family member 1 gene DOID:2222 factor X deficiency ISO RGD:1314890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 11922700 ING1 inhibitor of growth family member 1 gene DOID:2773 contact dermatitis ISO RGD:1314890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11922700 ING1 inhibitor of growth family member 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1314890 D RGD:7240710 20180130 OMIM 11922700 ING1 inhibitor of growth family member 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1314890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:10866301 11922700 ING1 inhibitor of growth family member 1 gene DOID:630 genetic disease ISO RGD:1314890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11922700 ING1 inhibitor of growth family member 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1314890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11922700 ING1 inhibitor of growth family member 1 gene DOID:9000918 Disease Progression ISO RGD:1314890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11922700 ING1 inhibitor of growth family member 1 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1314890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11922705 POLD2 DNA polymerase delta 2, accessory subunit gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11922705 POLD2 DNA polymerase delta 2, accessory subunit gene DOID:630 genetic disease ISO RGD:1312693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11922726 C1H1orf141 chromosome 1 C1orf141 homolog gene DOID:1059 intellectual disability ISO RGD:1606070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11922743 TMEM213 transmembrane protein 213 gene DOID:0080690 RASopathy ISO RGD:2293900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 11922743 TMEM213 transmembrane protein 213 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2293900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11922743 TMEM213 transmembrane protein 213 gene DOID:630 genetic disease ISO RGD:2293900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11922743 TMEM213 transmembrane protein 213 gene DOID:9005808 Distal Renal Tubular Acidosis 3, Autosomal Recessive ISO RGD:2293900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing 11922766 ITPRID2 ITPR interacting domain containing 2 gene DOID:10584 retinitis pigmentosa ISO RGD:1321861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28041643 11922766 ITPRID2 ITPR interacting domain containing 2 gene DOID:630 genetic disease ISO RGD:1321861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11922800 TTYH2 tweety family member 2 gene DOID:630 genetic disease ISO RGD:1354269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11922821 CASP7 caspase 7 gene DOID:0060186 chemical colitis treatment ISO RGD:1553182 D RGD:9068941 20200609 RGD PMID:28740344|REF_RGD_ID:13782278 11922821 CASP7 caspase 7 gene DOID:1002 endometritis treatment ISO RGD:620944 D RGD:9068941 20200609 RGD PMID:26920733|REF_RGD_ID:13782281 11922821 CASP7 caspase 7 gene DOID:10584 retinitis pigmentosa ISO RGD:1553182 D RGD:9068941 20200609 RGD PMID:23470535|REF_RGD_ID:8548491 11922821 CASP7 caspase 7 gene DOID:10652 Alzheimer's disease ISO RGD:1298347 D RGD:9068941 20200609 RGD PMID:12633148|REF_RGD_ID:13782269 11922821 CASP7 caspase 7 gene DOID:10652 Alzheimer's disease ISO RGD:1298347 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype PMID:26621834|REF_RGD_ID:11344490 11922821 CASP7 caspase 7 gene DOID:11446 sciatic neuropathy ISO RGD:620944 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal root ganglion PMID:29659443|REF_RGD_ID:13782273 11922821 CASP7 caspase 7 gene DOID:12306 vitiligo ISO RGD:1298347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 11922821 CASP7 caspase 7 gene DOID:1612 breast cancer disease_progression ISO RGD:1298347 D RGD:9068941 20200609 RGD PMID:23979166|REF_RGD_ID:13209143 11922821 CASP7 caspase 7 gene DOID:219 colon cancer disease_progression ISO RGD:1298347 D RGD:9068941 20200609 RGD PMID:23979166|REF_RGD_ID:13209143 11922821 CASP7 caspase 7 gene DOID:224 transient cerebral ischemia treatment ISO RGD:620944 D RGD:9068941 20200609 RGD PMID:25872160|REF_RGD_ID:13782285 11922821 CASP7 caspase 7 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1298347 D RGD:9068941 20200609 RGD DNA:SNP: :rs2227310 (human) PMID:20661084|REF_RGD_ID:13434908 11922821 CASP7 caspase 7 gene DOID:5199 ureteral obstruction treatment ISO RGD:620944 D RGD:9068941 20200609 RGD PMID:29781318|REF_RGD_ID:13782341 11922821 CASP7 caspase 7 gene DOID:630 genetic disease ISO RGD:1298347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11922821 CASP7 caspase 7 gene DOID:7148 rheumatoid arthritis ISO RGD:1298347 D RGD:9068941 20200609 RGD PMID:18785314|REF_RGD_ID:5684540 11922821 CASP7 caspase 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1298347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11922821 CASP7 caspase 7 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:620944 D RGD:9068941 20200609 RGD PMID:20702827|REF_RGD_ID:5684535 11922821 CASP7 caspase 7 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1298347 D RGD:9068941 20200609 RGD PMID:17646170|REF_RGD_ID:5684537 11922821 CASP7 caspase 7 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:620944 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:28456626|REF_RGD_ID:13782304 11922821 CASP7 caspase 7 gene DOID:9004332 Osteoarthritis, Experimental treatment ISO RGD:620944 D RGD:9068941 20200609 RGD PMID:29621761|REF_RGD_ID:13782275 11922821 CASP7 caspase 7 gene DOID:9005172 Lung Neoplasms disease_progression ISO RGD:1298347 D RGD:9068941 20200609 RGD PMID:23979166|REF_RGD_ID:13209143 11922821 CASP7 caspase 7 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:1298347 D RGD:9068941 20200609 RGD PMID:23979166|REF_RGD_ID:13209143 11922821 CASP7 caspase 7 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:620944 D RGD:9068941 20200609 RGD PMID:23404339|PMID:26699876|REF_RGD_ID:10053670|REF_RGD_ID:13782283 11922821 CASP7 caspase 7 gene DOID:9005930 Endotoxemia ISO RGD:1553182 D RGD:9068941 20200609 RGD PMID:19168786|REF_RGD_ID:5684539 11922821 CASP7 caspase 7 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:620944 D RGD:9068941 20200609 RGD PMID:17596683|REF_RGD_ID:5684536 11922821 CASP7 caspase 7 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1298347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14998631 11922821 CASP7 caspase 7 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:620944 D RGD:9068941 20200609 RGD PMID:29538428|REF_RGD_ID:13782276 11922821 CASP7 caspase 7 gene DOID:9008939 Breast Neoplasms ISO RGD:1298347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16583263 11922821 CASP7 caspase 7 gene DOID:9119 acute myeloid leukemia ISO RGD:1298347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11922821 CASP7 caspase 7 gene DOID:9352 type 2 diabetes mellitus ISO RGD:620944 D RGD:9068941 20200609 RGD PMID:23032698|REF_RGD_ID:10053698 11922821 CASP7 caspase 7 gene DOID:9408 acute myocardial infarction treatment ISO RGD:620944 D RGD:9068941 20200609 RGD PMID:26550220|REF_RGD_ID:13782284 11922843 AK7 adenylate kinase 7 gene DOID:0111928 spermatogenic failure 27 ISO RGD:1320025 D RGD:7240710 20190315 OMIM 11922843 AK7 adenylate kinase 7 gene DOID:0111928 spermatogenic failure 27 ISO RGD:1320025 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 27 PMID:25741868|PMID:28492532|PMID:29365104 11922843 AK7 adenylate kinase 7 gene DOID:10908 hydrocephalus ISO RGD:1617449 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 11922843 AK7 adenylate kinase 7 gene DOID:630 genetic disease ISO RGD:1320025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11922843 AK7 adenylate kinase 7 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320025 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18776131|PMID:20537283|PMID:22801010 11922865 TAF10 TATA-box binding protein associated factor 10 gene DOID:0050700 cardiomyopathy ISO RGD:1314218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 11922865 TAF10 TATA-box binding protein associated factor 10 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:17576681|PMID:24033266|PMID:25163546|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29915097|PMID:9536098 11922865 TAF10 TATA-box binding protein associated factor 10 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11402068|PMID:11694518|PMID:14745274|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29915097|PMID:30206291|PMID:31983221|PMID:33874732|PMID:34935411|PMID:9536098 11922865 TAF10 TATA-box binding protein associated factor 10 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314218 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11402068|PMID:11694518|PMID:14745274|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28492532|PMID:29915097|PMID:30206291|PMID:31983221|PMID:33874732|PMID:34935411|PMID:9536098 11922865 TAF10 TATA-box binding protein associated factor 10 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314218 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28492532 11922865 TAF10 TATA-box binding protein associated factor 10 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy 11922865 TAF10 TATA-box binding protein associated factor 10 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1314218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11922865 TAF10 TATA-box binding protein associated factor 10 gene DOID:2843 long QT syndrome ISO RGD:1314218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11922865 TAF10 TATA-box binding protein associated factor 10 gene DOID:630 genetic disease ISO RGD:1314218 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532|PMID:34935411 11922894 TRMT10C tRNA methyltransferase 10C, mitochondrial RNase P subunit gene DOID:0111471 combined oxidative phosphorylation deficiency 30 ISO RGD:1314894 D RGD:7240710 20190315 OMIM 11922894 TRMT10C tRNA methyltransferase 10C, mitochondrial RNase P subunit gene DOID:0111471 combined oxidative phosphorylation deficiency 30 ISO RGD:1314894 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 30 PMID:25741868|PMID:27132592 11922894 TRMT10C tRNA methyltransferase 10C, mitochondrial RNase P subunit gene DOID:630 genetic disease ISO RGD:1314894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11922894 TRMT10C tRNA methyltransferase 10C, mitochondrial RNase P subunit gene DOID:700 mitochondrial metabolism disease ISO RGD:1314894 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:25741868|PMID:27132592 11922900 ROBO4 roundabout guidance receptor 4 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:1345935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bicuspid aortic valve PMID:25741868|PMID:30455415 11922900 ROBO4 roundabout guidance receptor 4 gene DOID:0080977 aortic valve disease 3 ISO RGD:1345935 D RGD:7240710 20190731 OMIM 11922900 ROBO4 roundabout guidance receptor 4 gene DOID:0080977 aortic valve disease 3 ISO RGD:1345935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic valve disease 3 PMID:25741868|PMID:30455415 11922900 ROBO4 roundabout guidance receptor 4 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1345935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11922900 ROBO4 roundabout guidance receptor 4 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1345935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11922900 ROBO4 roundabout guidance receptor 4 gene DOID:10591 pre-eclampsia ISO RGD:1345935 D RGD:9068941 20230330 RGD mRNA,protein:increased expression:placenta PMID:22262697|REF_RGD_ID:243048428 11922900 ROBO4 roundabout guidance receptor 4 gene DOID:12849 autistic disorder ISO RGD:1345935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18270976 11922900 ROBO4 roundabout guidance receptor 4 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1345935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm PMID:32748548 11922900 ROBO4 roundabout guidance receptor 4 gene DOID:224 transient cerebral ischemia ISO RGD:6494870 D RGD:9068941 20230330 RGD protein:increased expression:hippocampus PMID:26764532|REF_RGD_ID:11573340 11922900 ROBO4 roundabout guidance receptor 4 gene DOID:3627 aortic aneurysm ISO RGD:1345935 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ascending aortic dilation PMID:25741868|PMID:30455415 11922900 ROBO4 roundabout guidance receptor 4 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1345935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia 11922900 ROBO4 roundabout guidance receptor 4 gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:1345935 D RGD:9068941 20220310 RGD PMID:32626543|REF_RGD_ID:151665104 11922900 ROBO4 roundabout guidance receptor 4 gene DOID:5419 schizophrenia ISO RGD:1345935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11922900 ROBO4 roundabout guidance receptor 4 gene DOID:630 genetic disease ISO RGD:1345935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30455415 11922900 ROBO4 roundabout guidance receptor 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11922900 ROBO4 roundabout guidance receptor 4 gene DOID:9007661 Dwarfism ISO RGD:1345935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11922926 SEZ6L seizure related 6 homolog like gene DOID:0110271 cataract 23 ISO RGD:1344560 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 11922926 SEZ6L seizure related 6 homolog like gene DOID:10283 prostate cancer ISO RGD:1344560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11922926 SEZ6L seizure related 6 homolog like gene DOID:630 genetic disease ISO RGD:1344560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11922948 USE1 unconventional SNARE in the ER 1 gene DOID:630 genetic disease ISO RGD:1603634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11922960 JOSD2 Josephin domain containing 2 gene DOID:630 genetic disease ISO RGD:1606979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11922987 GRK1 G protein-coupled receptor kinase 1 gene DOID:0050534 congenital stationary night blindness ISO RGD:1345543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:30718709 11922987 GRK1 G protein-coupled receptor kinase 1 gene DOID:0110713 Oguchi disease-2 ISO RGD:1345543 D RGD:7240710 20180808 OMIM 11922987 GRK1 G protein-coupled receptor kinase 1 gene DOID:0110713 Oguchi disease-2 ISO RGD:1345543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oguchi disease-2 PMID:16319817|PMID:17070587|PMID:17765441|PMID:19753316|PMID:22959359|PMID:26349155|PMID:27511724|PMID:28418496|PMID:28511019|PMID:30718709|PMID:9020843|PMID:9419375 11922987 GRK1 G protein-coupled receptor kinase 1 gene DOID:2222 factor X deficiency ISO RGD:1345543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 11922987 GRK1 G protein-coupled receptor kinase 1 gene DOID:5679 retinal disease ISO RGD:619712 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:retina PMID:10549637|REF_RGD_ID:1600004 11922987 GRK1 G protein-coupled receptor kinase 1 gene DOID:6000 congestive heart failure ISO RGD:619712 D RGD:9068941 20200609 RGD PMID:12456492|REF_RGD_ID:1600002 11922987 GRK1 G protein-coupled receptor kinase 1 gene DOID:630 genetic disease ISO RGD:1345543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11922987 GRK1 G protein-coupled receptor kinase 1 gene DOID:8498 hereditary night blindness ISO RGD:1345543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oguchi disease PMID:25741868 11922987 GRK1 G protein-coupled receptor kinase 1 gene DOID:8499 night blindness ISO RGD:1345543 D RGD:9068941 20200609 RGD DNA:deletions, missense mutation, frameshift mutation PMID:9020843|REF_RGD_ID:1600000 11922987 GRK1 G protein-coupled receptor kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619712 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:15939031|REF_RGD_ID:1600001 11922987 GRK1 G protein-coupled receptor kinase 1 gene DOID:9005968 Neuralgia ISO RGD:1345543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31432094 11923002 MARCHF10 membrane associated ring-CH-type finger 10 gene DOID:630 genetic disease ISO RGD:1601818 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11923024 IKBKE inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1318072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11923024 IKBKE inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:12849 autistic disorder ISO RGD:1318072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11923024 IKBKE inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:1540 parathyroid carcinoma ISO RGD:1318072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11923024 IKBKE inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:630 genetic disease ISO RGD:1318072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11923024 IKBKE inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1318072 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11923024 IKBKE inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11923065 CPTP ceramide-1-phosphate transfer protein gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:2289752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11923065 CPTP ceramide-1-phosphate transfer protein gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:2289752 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11923065 CPTP ceramide-1-phosphate transfer protein gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:2289752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11923065 CPTP ceramide-1-phosphate transfer protein gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:2289752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11923065 CPTP ceramide-1-phosphate transfer protein gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:2289752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11923065 CPTP ceramide-1-phosphate transfer protein gene DOID:0110994 Joubert syndrome 25 ISO RGD:2289752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11923065 CPTP ceramide-1-phosphate transfer protein gene DOID:0111934 immunodeficiency 38 ISO RGD:2289752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11923065 CPTP ceramide-1-phosphate transfer protein gene DOID:0111935 immunodeficiency 16 ISO RGD:2289752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11923065 CPTP ceramide-1-phosphate transfer protein gene DOID:1827 idiopathic generalized epilepsy ISO RGD:2289752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11923065 CPTP ceramide-1-phosphate transfer protein gene DOID:630 genetic disease ISO RGD:2289752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11923065 CPTP ceramide-1-phosphate transfer protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2289752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11923065 CPTP ceramide-1-phosphate transfer protein gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:2289752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11923065 CPTP ceramide-1-phosphate transfer protein gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:2289752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11923075 CMPK2 cytidine/uridine monophosphate kinase 2 gene DOID:2377 multiple sclerosis ISO RGD:1602074 D RGD:9068941 20200609 RGD mRNA:altered expression:PMN cell (human) PMID:20136355|REF_RGD_ID:5133255 11923075 CMPK2 cytidine/uridine monophosphate kinase 2 gene DOID:630 genetic disease ISO RGD:1602074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11923088 CYTH2 cytohesin 2 gene DOID:630 genetic disease ISO RGD:737071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11923107 PXMP2 peroxisomal membrane protein 2 gene DOID:630 genetic disease ISO RGD:1347054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11923107 PXMP2 peroxisomal membrane protein 2 gene DOID:9256 colorectal cancer ISO RGD:1347054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:23230001|PMID:25948378|PMID:28492532|PMID:30503519 11923124 INPP5A inositol polyphosphate-5-phosphatase A gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1314631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11923124 INPP5A inositol polyphosphate-5-phosphatase A gene DOID:1749 squamous cell carcinoma ISO RGD:1314631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25759212 11923124 INPP5A inositol polyphosphate-5-phosphatase A gene DOID:37 skin disease ISO RGD:1314631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25759212 11923124 INPP5A inositol polyphosphate-5-phosphatase A gene DOID:5419 schizophrenia ISO RGD:1314631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 11923124 INPP5A inositol polyphosphate-5-phosphatase A gene DOID:630 genetic disease ISO RGD:1314631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11923124 INPP5A inositol polyphosphate-5-phosphatase A gene DOID:9007964 Arsenic Poisoning ISO RGD:1314631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25759212 11923156 PPP5D1P protein PPP5D1 gene DOID:630 genetic disease ISO RGD:6783693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11923188 AMIGO3 adhesion molecule with Ig like domain 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 11923188 AMIGO3 adhesion molecule with Ig like domain 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 11923188 AMIGO3 adhesion molecule with Ig like domain 3 gene DOID:11446 sciatic neuropathy ISO RGD:631413 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion (rat) PMID:23613963|REF_RGD_ID:14390159 11923188 AMIGO3 adhesion molecule with Ig like domain 3 gene DOID:630 genetic disease ISO RGD:735629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11923188 AMIGO3 adhesion molecule with Ig like domain 3 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:735629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11923188 AMIGO3 adhesion molecule with Ig like domain 3 gene DOID:9001553 Spinal Cord Compression ISO RGD:631413 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:dorsal root ganglion (rat) PMID:23613963|REF_RGD_ID:14390159 11923188 AMIGO3 adhesion molecule with Ig like domain 3 gene DOID:9008091 Optic Nerve Injuries treatment ISO RGD:631413 D RGD:9068941 20200609 RGD PMID:23613963|REF_RGD_ID:14390159 11923231 BCKDHB branched chain keto acid dehydrogenase E1 subunit beta gene DOID:630 genetic disease ISO RGD:1351460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11448970|PMID:11509994|PMID:20301495|PMID:21484869|PMID:22326532|PMID:22593002|PMID:25255367|PMID:25381949|PMID:25741868|PMID:26257134|PMID:26453840|PMID:27507644|PMID:27682710|PMID:28197878|PMID:28492532|PMID:29307017|PMID:31119508|PMID:31980395|PMID:33300147|PMID:34556729|PMID:35281663 11923231 BCKDHB branched chain keto acid dehydrogenase E1 subunit beta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2197 D RGD:9068941 20200609 RGD Protein:increased expression:liver; PMID:9460082|REF_RGD_ID:1599467 11923231 BCKDHB branched chain keto acid dehydrogenase E1 subunit beta gene DOID:9007006 Maple Syrup Urine Disease, Type 1B ISO RGD:1351460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB | ClinVar Annotator: match by term: Maple syrup urine disease type 1B PMID:11112664|PMID:11448970|PMID:11509994|PMID:14517957|PMID:14567968|PMID:14742428|PMID:15884622|PMID:16468966|PMID:16786533|PMID:17576681|PMID:17922217|PMID:18378174|PMID:19282776|PMID:19480318|PMID:20301495|PMID:20307994|PMID:21484869|PMID:22593002|PMID:22727569|PMID:24374108|PMID:24772966|PMID:24995870|PMID:25255367|PMID:25333063|PMID:25525159|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26830710|PMID:28197878|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:30228974|PMID:31112740|PMID:31980395|PMID:32812330|PMID:33131499|PMID:34556729|PMID:8312380|PMID:8430702|PMID:9375800|PMID:9536098 11923231 BCKDHB branched chain keto acid dehydrogenase E1 subunit beta gene DOID:9269 maple syrup urine disease ISO RGD:1351460 D RGD:7240710 20180130 OMIM 11923231 BCKDHB branched chain keto acid dehydrogenase E1 subunit beta gene DOID:9269 maple syrup urine disease ISO RGD:1351460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant PMID:11112664|PMID:11448970|PMID:11509994|PMID:14517957|PMID:14567968|PMID:14742428|PMID:15884622|PMID:16199547|PMID:16468966|PMID:16786533|PMID:17576681|PMID:17922217|PMID:18378174|PMID:19282776|PMID:19480318|PMID:20307994|PMID:21484869|PMID:22326532|PMID:22350544|PMID:22593002|PMID:22727569|PMID:24374108|PMID:24770567|PMID:24772966|PMID:24995870|PMID:25255367|PMID:25333063|PMID:25381949|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26453840|PMID:26786177|PMID:26830710|PMID:27507644|PMID:27682710|PMID:28197878|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29307017|PMID:29740478|PMID:29740775|PMID:30228974|PMID:30298499|PMID:31112740|PMID:31119508|PMID:31523617|PMID:31610500|PMID:31980395|PMID:32193832|PMID:32812330|PMID:33131499|PMID:33300147|PMID:34556729|PMID:8161368|PMID:8312380|PMID:8430702|PMID:9375800|PMID:9536098 11923231 BCKDHB branched chain keto acid dehydrogenase E1 subunit beta gene DOID:9269 maple syrup urine disease ISO RGD:1351460 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:11112664|PMID:11448970|PMID:11509994|PMID:14517957|PMID:14567968|PMID:14742428|PMID:15884622|PMID:16199547|PMID:16468966|PMID:16786533|PMID:17576681|PMID:17922217|PMID:18378174|PMID:19282776|PMID:19480318|PMID:20301495|PMID:20307994|PMID:21484869|PMID:22326532|PMID:22350544|PMID:22593002|PMID:22727569|PMID:24374108|PMID:24571530|PMID:24770567|PMID:24772966|PMID:24995870|PMID:25255367|PMID:25333063|PMID:25381949|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26232051|PMID:26239723|PMID:26257134|PMID:26453840|PMID:26786177|PMID:26830710|PMID:27507644|PMID:27682710|PMID:28197878|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29307017|PMID:29740478|PMID:29740775|PMID:30228974|PMID:31112740|PMID:31119508|PMID:31251765|PMID:31523617|PMID:31610500|PMID:31980395|PMID:32151765|PMID:32193832|PMID:32515140|PMID:32812330|PMID:33131499|PMID:33300147|PMID:33955723|PMID:34556729|PMID:35281663|PMID:8161368|PMID:8312380|PMID:8430702|PMID:9375800|PMID:9536098 11923231 BCKDHB branched chain keto acid dehydrogenase E1 subunit beta gene DOID:9269 maple syrup urine disease ISO RGD:1351460 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:11112664|PMID:11448970|PMID:11509994|PMID:14517957|PMID:14567968|PMID:14742428|PMID:15884622|PMID:16199547|PMID:16468966|PMID:16786533|PMID:17576681|PMID:17922217|PMID:18378174|PMID:19282776|PMID:19480318|PMID:19715473|PMID:20301495|PMID:20307994|PMID:21484869|PMID:22326532|PMID:22350544|PMID:22593002|PMID:22727569|PMID:24374108|PMID:24571530|PMID:24770567|PMID:24772966|PMID:24995870|PMID:25255367|PMID:25333063|PMID:25381949|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26232051|PMID:26239723|PMID:26257134|PMID:26453840|PMID:26786177|PMID:26830710|PMID:27507644|PMID:27682710|PMID:28197878|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29307017|PMID:29740478|PMID:29740775|PMID:30228974|PMID:31112740|PMID:31119508|PMID:31251765|PMID:31523617|PMID:31610500|PMID:31980395|PMID:32151765|PMID:32193832|PMID:32515140|PMID:32812330|PMID:33131499|PMID:33300147|PMID:33955723|PMID:34556729|PMID:35281663|PMID:8161368|PMID:8312380|PMID:8430702|PMID:9375800|PMID:9536098 11923246 THUMPD2 THUMP domain containing 2 gene DOID:3883 Lynch syndrome ISO RGD:1315745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11923246 THUMPD2 THUMP domain containing 2 gene DOID:630 genetic disease ISO RGD:1315745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11923246 THUMPD2 THUMP domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11923264 LOC100971190 putative N-acetyltransferase 8B gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1605078 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11923264 LOC100971190 putative N-acetyltransferase 8B gene DOID:543 dystonia ISO RGD:1605078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11923264 LOC100971190 putative N-acetyltransferase 8B gene DOID:630 genetic disease ISO RGD:1605078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11923264 LOC100971190 putative N-acetyltransferase 8B gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1605078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11923270 PRRT2 proline rich transmembrane protein 2 gene DOID:0060019 coronin-1A deficiency ISO RGD:1602444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11923270 PRRT2 proline rich transmembrane protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1602444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 11923270 PRRT2 proline rich transmembrane protein 2 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1602444 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 11923270 PRRT2 proline rich transmembrane protein 2 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1602444 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 11923270 PRRT2 proline rich transmembrane protein 2 gene DOID:0080462 developmental and epileptic encephalopathy 7 ISO RGD:1602444 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: KCNQ2-Related Neonatal Epileptic Encephalopathy PMID:11179027|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22623405|PMID:22744660|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23299620|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24370076|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:26467025|PMID:26561923|PMID:26598493|PMID:28074849|PMID:28492532|PMID:29334453|PMID:34782754 11923270 PRRT2 proline rich transmembrane protein 2 gene DOID:0081115 benign familial infantile seizures 2 ISO RGD:1602444 D RGD:7240710 20180130 OMIM 11923270 PRRT2 proline rich transmembrane protein 2 gene DOID:0081115 benign familial infantile seizures 2 ISO RGD:1602444 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2 | ClinVar Annotator: match by term: Seizures, benign familial infantile, 2 PMID:11179027|PMID:11346027|PMID:12953268|PMID:18414213|PMID:2131349|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22464846|PMID:22623405|PMID:22744660|PMID:22752065|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:22895590|PMID:22902309|PMID:23077016|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23190448|PMID:23299620|PMID:23352743|PMID:23363396|PMID:23496026|PMID:23529024|PMID:23566103|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24370076|PMID:24594579|PMID:24609974|PMID:24755245|PMID:24828792|PMID:24886244|PMID:25167861|PMID:25449067|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:26446061|PMID:26467025|PMID:26561923|PMID:26598493|PMID:26598494|PMID:27172900|PMID:27624551|PMID:28074849|PMID:28492532|PMID:28906077|PMID:29167286|PMID:29334453|PMID:30198221|PMID:30386286|PMID:30392205|PMID:30980674|PMID:31124310|PMID:31130284|PMID:31722684|PMID:32346475|PMID:32392383|PMID:34298454|PMID:34298581|PMID:34782754|PMID:9579893 11923270 PRRT2 proline rich transmembrane protein 2 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1602444 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial paroxysmal choreoathetosis PMID:11179027|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22623405|PMID:22744660|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23299620|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24370076|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:26467025|PMID:26561923|PMID:26598493|PMID:28074849|PMID:28492532|PMID:29334453|PMID:34782754 11923270 PRRT2 proline rich transmembrane protein 2 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1602444 D RGD:7240710 20180130 OMIM 11923270 PRRT2 proline rich transmembrane protein 2 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1602444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia 1 | ClinVar Annotator: match by term: Familial Paroxysmal Kinesigenic Dyskinesia | ClinVar Annotator: match by term: Familial paroxysmal dystonia | ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:11179027|PMID:11346027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19914906|PMID:20301633|PMID:2131349|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22464846|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:22752065|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:22895590|PMID:22902309|PMID:23063574|PMID:23077016|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23190448|PMID:23299620|PMID:23352743|PMID:23363396|PMID:23436308|PMID:23456995|PMID:23496026|PMID:23529024|PMID:23551744|PMID:23566103|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24101679|PMID:24370076|PMID:24372385|PMID:24465263|PMID:24594579|PMID:24609974|PMID:24755245|PMID:24811917|PMID:24828792|PMID:24886244|PMID:25167861|PMID:25421402|PMID:25449067|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:25915028|PMID:26446061|PMID:26467025|PMID:26561923|PMID:26598493|PMID:26598494|PMID:26629640|PMID:26742926|PMID:26867511|PMID:26935445|PMID:26936445|PMID:26944167|PMID:27123484|PMID:27172900|PMID:27173777|PMID:27624551|PMID:28074849|PMID:28492532|PMID:28525812|PMID:28906077|PMID:29132464|PMID:29167286|PMID:29215089|PMID:29334453|PMID:29655203|PMID:29801903|PMID:30198221|PMID:30386286|PMID:30392205|PMID:30980674|PMID:31124310|PMID:31130284|PMID:31154286|PMID:31302675|PMID:31589614|PMID:31722684|PMID:31901402|PMID:32346475|PMID:32392383|PMID:32651081|PMID:32906206|PMID:33126486|PMID:34041212|PMID:34298454|PMID:34298581|PMID:34782754|PMID:9536098 11923270 PRRT2 proline rich transmembrane protein 2 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1602444 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 11923270 PRRT2 proline rich transmembrane protein 2 gene DOID:1059 intellectual disability ISO RGD:1602444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, profound PMID:25741868 11923270 PRRT2 proline rich transmembrane protein 2 gene DOID:12849 autistic disorder ISO RGD:1602444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11923270 PRRT2 proline rich transmembrane protein 2 gene DOID:1826 epilepsy ISO RGD:1602444 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizure PMID:11179027|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22623405|PMID:22744660|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23299620|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24370076|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:26467025|PMID:26598493|PMID:28074849|PMID:28492532|PMID:29334453|PMID:34782754 11923270 PRRT2 proline rich transmembrane protein 2 gene DOID:1826 epilepsy ISO RGD:1602444 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:11179027|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22623405|PMID:22744660|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23299620|PMID:23529024|PMID:23566103|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24370076|PMID:24594579|PMID:24828792|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:26467025|PMID:26561923|PMID:26598493|PMID:28074849|PMID:28492532|PMID:29334453|PMID:31124310|PMID:34782754 11923270 PRRT2 proline rich transmembrane protein 2 gene DOID:1882 atrial heart septal defect ISO RGD:1602444 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 11923270 PRRT2 proline rich transmembrane protein 2 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1602444 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cholestanol storage disease PMID:25741868|PMID:28492532|PMID:28590052 11923270 PRRT2 proline rich transmembrane protein 2 gene DOID:5419 schizophrenia ISO RGD:1602444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11923270 PRRT2 proline rich transmembrane protein 2 gene DOID:630 genetic disease ISO RGD:1602444 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11179027|PMID:11346027|PMID:18414213|PMID:20301633|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22623405|PMID:22744660|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:23063574|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23190448|PMID:23299620|PMID:23363396|PMID:23436308|PMID:23496026|PMID:23529024|PMID:23566103|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24370076|PMID:24594579|PMID:24828792|PMID:25167861|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:26467025|PMID:26561923|PMID:26598493|PMID:26598494|PMID:27123484|PMID:28074849|PMID:28492532|PMID:28525812|PMID:29334453|PMID:31124310|PMID:31193310|PMID:34782754 11923270 PRRT2 proline rich transmembrane protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11923270 PRRT2 proline rich transmembrane protein 2 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1602444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11923270 PRRT2 proline rich transmembrane protein 2 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1602444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 11923270 PRRT2 proline rich transmembrane protein 2 gene DOID:9007283 Familial Infantile Convulsions and Paroxysmal Choreoathetosis ISO RGD:1602444 D RGD:7240710 20180130 OMIM 11923270 PRRT2 proline rich transmembrane protein 2 gene DOID:9007283 Familial Infantile Convulsions and Paroxysmal Choreoathetosis ISO RGD:1602444 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial | ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS PMID:11179027|PMID:11346027|PMID:18414213|PMID:20301633|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22464846|PMID:22623405|PMID:22744660|PMID:22752065|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:22902309|PMID:23077016|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23190448|PMID:23299620|PMID:23352743|PMID:23363396|PMID:23529024|PMID:23566103|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24370076|PMID:24465263|PMID:24594579|PMID:24755245|PMID:24828792|PMID:25167861|PMID:25449067|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:26467025|PMID:26561923|PMID:26598493|PMID:26598494|PMID:26935445|PMID:26936445|PMID:27172900|PMID:27173777|PMID:28074849|PMID:28492532|PMID:28906077|PMID:29334453|PMID:30980674|PMID:31124310|PMID:31722684|PMID:33126486|PMID:34782754 11923270 PRRT2 proline rich transmembrane protein 2 gene DOID:9007956 Febrile Seizures ISO RGD:1602444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex febrile seizures PMID:28492532 11923270 PRRT2 proline rich transmembrane protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1602444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11923278 VSIG4 V-set and immunoglobulin domain containing 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11923278 VSIG4 V-set and immunoglobulin domain containing 4 gene DOID:0080600 COVID-19 ISO RGD:1354021 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11923278 VSIG4 V-set and immunoglobulin domain containing 4 gene DOID:12849 autistic disorder ISO RGD:1354021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11923278 VSIG4 V-set and immunoglobulin domain containing 4 gene DOID:2986 IgA glomerulonephritis ISO RGD:1354021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 11923278 VSIG4 V-set and immunoglobulin domain containing 4 gene DOID:630 genetic disease ISO RGD:1354021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11923278 VSIG4 V-set and immunoglobulin domain containing 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1354021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11923278 VSIG4 V-set and immunoglobulin domain containing 4 gene DOID:9119 acute myeloid leukemia ISO RGD:1354021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 11923299 TRIM37 tripartite motif containing 37 gene DOID:0050436 mulibrey nanism ISO RGD:1318066 D RGD:7240710 20180130 OMIM 11923299 TRIM37 tripartite motif containing 37 gene DOID:0050436 mulibrey nanism ISO RGD:1318066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mulibrey nanism syndrome PMID:10888877|PMID:12754710|PMID:15108285|PMID:15885686|PMID:17100991|PMID:17551331|PMID:21681106|PMID:25741868|PMID:28492532|PMID:33042106 11923299 TRIM37 tripartite motif containing 37 gene DOID:0050777 Joubert syndrome ISO RGD:1318066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11923299 TRIM37 tripartite motif containing 37 gene DOID:630 genetic disease ISO RGD:1318066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11923299 TRIM37 tripartite motif containing 37 gene DOID:9005369 Hepatomegaly ISO RGD:1318066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14757854 11923299 TRIM37 tripartite motif containing 37 gene DOID:9007661 Dwarfism ISO RGD:1318066 D RGD:9068941 20200609 RGD Mulibrey Nanism, OMIM:253250 PMID:10888877|REF_RGD_ID:1599667 11923299 TRIM37 tripartite motif containing 37 gene DOID:9008267 Fibrous Dysplasia of Bone ISO RGD:1318066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14757854 11923299 TRIM37 tripartite motif containing 37 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1318066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14757854 11923337 SEMA4A semaphorin 4A gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11923337 SEMA4A semaphorin 4A gene DOID:0050572 cone-rod dystrophy ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive PMID:28492532 11923337 SEMA4A semaphorin 4A gene DOID:0110357 retinitis pigmentosa 35 ISO RGD:1312188 D RGD:7240710 20180130 OMIM 11923337 SEMA4A semaphorin 4A gene DOID:0110357 retinitis pigmentosa 35 ISO RGD:1312188 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 35 PMID:16199541|PMID:22956603|PMID:23360997|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28805479 11923337 SEMA4A semaphorin 4A gene DOID:0111017 cone-rod dystrophy 10 ISO RGD:1312188 D RGD:7240710 20180130 OMIM 11923337 SEMA4A semaphorin 4A gene DOID:0111017 cone-rod dystrophy 10 ISO RGD:1312188 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 10 PMID:16199541|PMID:22956603|PMID:23360997|PMID:24033266|PMID:25307848|PMID:25741868|PMID:26103963|PMID:28492532|PMID:28805479 11923337 SEMA4A semaphorin 4A gene DOID:0111228 Sveinsson chorioretinal atrophy ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Helicoid peripapillary chorioretinal degeneration PMID:25741868 11923337 SEMA4A semaphorin 4A gene DOID:0111940 immunodeficiency 42 ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11923337 SEMA4A semaphorin 4A gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11923337 SEMA4A semaphorin 4A gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1312188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11923337 SEMA4A semaphorin 4A gene DOID:10584 retinitis pigmentosa ISO RGD:1312188 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199541|PMID:23360997|PMID:24033266|PMID:25307848|PMID:25741868|PMID:26103963|PMID:28492532|PMID:28805479 11923337 SEMA4A semaphorin 4A gene DOID:1540 parathyroid carcinoma ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11923337 SEMA4A semaphorin 4A gene DOID:5812 MHC class II deficiency ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11923337 SEMA4A semaphorin 4A gene DOID:630 genetic disease ISO RGD:1312188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11923337 SEMA4A semaphorin 4A gene DOID:8501 fundus dystrophy ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:26103963|PMID:28492532 11923337 SEMA4A semaphorin 4A gene DOID:9004271 Colonic Polyps ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon polyps PMID:25637381|PMID:28492532 11923337 SEMA4A semaphorin 4A gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1312188 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33290778 11923337 SEMA4A semaphorin 4A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11923337 SEMA4A semaphorin 4A gene DOID:9256 colorectal cancer ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:25637381|PMID:28492532 11923372 CXHXorf38 chromosome X CXorf38 homolog gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11923372 CXHXorf38 chromosome X CXorf38 homolog gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1352581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 11923372 CXHXorf38 chromosome X CXorf38 homolog gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1352581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 11923372 CXHXorf38 chromosome X CXorf38 homolog gene DOID:12849 autistic disorder ISO RGD:1352581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11923372 CXHXorf38 chromosome X CXorf38 homolog gene DOID:630 genetic disease ISO RGD:1352581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11923372 CXHXorf38 chromosome X CXorf38 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11923372 CXHXorf38 chromosome X CXorf38 homolog gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1352581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 11923383 ACTL7A actin like 7A gene DOID:12336 male infertility ISO RGD:1312292 D RGD:9068941 20200609 RGD PMID:26957350|REF_RGD_ID:13831339 11923383 ACTL7A actin like 7A gene DOID:4006 bladder urothelial carcinoma ISO RGD:1312292 D RGD:9068941 20200609 RGD PMID:29058301|REF_RGD_ID:13831338 11923383 ACTL7A actin like 7A gene DOID:630 genetic disease ISO RGD:1312292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11923393 ACADS acyl-CoA dehydrogenase short chain gene DOID:0080154 short chain acyl-CoA dehydrogenase deficiency ISO RGD:732202 D RGD:7240710 20180130 OMIM 11923393 ACADS acyl-CoA dehydrogenase short chain gene DOID:0080154 short chain acyl-CoA dehydrogenase deficiency ISO RGD:732202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase PMID:11134486|PMID:12736383|PMID:12872838|PMID:14506246|PMID:14568186|PMID:14595061|PMID:16199547|PMID:16546179|PMID:16906473|PMID:1692038|PMID:16926354|PMID:17576681|PMID:18054510|PMID:185223805|PMID:18523805|PMID:18676165|PMID:18836889|PMID:18951053|PMID:19800078|PMID:20376488|PMID:20389114|PMID:21170680|PMID:21325261|PMID:21483766|PMID:21500142|PMID:22241096|PMID:22424739|PMID:23155713|PMID:23798014|PMID:24033266|PMID:24485985|PMID:25741868|PMID:26055667|PMID:26274329|PMID:27051597|PMID:27466294|PMID:27938594|PMID:28018444|PMID:2808706|PMID:28263315|PMID:28374236|PMID:28454995|PMID:28492532|PMID:28516284|PMID:28532786|PMID:29519241|PMID:29678161|PMID:30035407|PMID:30612563|PMID:31813752|PMID:32710939|PMID:32778825|PMID:32793418|PMID:33391346|PMID:9499414|PMID:9536098|PMID:9582344 11923393 ACADS acyl-CoA dehydrogenase short chain gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:732202 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:12736383|PMID:16546179|PMID:18523805|PMID:18676165|PMID:22241096|PMID:23798014|PMID:25741868|PMID:28492532|PMID:32793418|PMID:9499414 11923393 ACADS acyl-CoA dehydrogenase short chain gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:732202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:18523805|PMID:25741868|PMID:28492532 11923393 ACADS acyl-CoA dehydrogenase short chain gene DOID:6000 congestive heart failure ISO RGD:732202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30827304 11923393 ACADS acyl-CoA dehydrogenase short chain gene DOID:630 genetic disease ISO RGD:732202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12736383|PMID:16546179|PMID:1692038|PMID:18054510|PMID:18523805|PMID:18676165|PMID:21170680|PMID:21483766|PMID:22241096|PMID:22424739|PMID:23798014|PMID:24033266|PMID:24485985|PMID:25741868|PMID:27051597|PMID:2808706|PMID:28492532|PMID:32793418|PMID:9499414 11923393 ACADS acyl-CoA dehydrogenase short chain gene DOID:9352 type 2 diabetes mellitus ISO RGD:732202 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:18523805|PMID:25741868|PMID:28492532 11923431 PAPOLG poly(A) polymerase gamma gene DOID:630 genetic disease ISO RGD:1321183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11923465 UBAP1 ubiquitin associated protein 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1313064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11923465 UBAP1 ubiquitin associated protein 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1313064 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11923465 UBAP1 ubiquitin associated protein 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1313064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11923465 UBAP1 ubiquitin associated protein 1 gene DOID:0112341 hereditary spastic paraplegia 80 ISO RGD:1313064 D RGD:7240710 20190911 OMIM 11923465 UBAP1 ubiquitin associated protein 1 gene DOID:0112341 hereditary spastic paraplegia 80 ISO RGD:1313064 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 80, autosomal dominant PMID:25741868|PMID:25741869|PMID:30929741|PMID:31203368|PMID:31515522|PMID:31696996 11923465 UBAP1 ubiquitin associated protein 1 gene DOID:630 genetic disease ISO RGD:1313064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11923465 UBAP1 ubiquitin associated protein 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11923465 UBAP1 ubiquitin associated protein 1 gene DOID:9870 galactosemia ISO RGD:1313064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11923480 SAPCD1 suppressor APC domain containing 1 gene DOID:0050553 JMP syndrome ISO RGD:1352760 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11923480 SAPCD1 suppressor APC domain containing 1 gene DOID:630 genetic disease ISO RGD:1352760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11923493 NKG7 natural killer cell granule protein 7 gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1347836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:16510302|PMID:23785301|PMID:28492532 11923493 NKG7 natural killer cell granule protein 7 gene DOID:630 genetic disease ISO RGD:1347836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11923511 BST1 bone marrow stromal cell antigen 1 gene DOID:0050777 Joubert syndrome ISO RGD:1342632 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11923511 BST1 bone marrow stromal cell antigen 1 gene DOID:14330 Parkinson's disease ISO RGD:1342632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19915576 11923511 BST1 bone marrow stromal cell antigen 1 gene DOID:630 genetic disease ISO RGD:1342632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11923511 BST1 bone marrow stromal cell antigen 1 gene DOID:850 lung disease ISO RGD:1342632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21602193 11923528 GATA4 GATA binding protein 4 gene DOID:0050651 atrioventricular septal defect ISO RGD:737140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11923528 GATA4 GATA binding protein 4 gene DOID:0060224 atrial fibrillation ISO RGD:737140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 11923528 GATA4 GATA binding protein 4 gene DOID:0060770 dextro-looped transposition of the great arteries ISO RGD:737140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transposition of the great arteries PMID:12845333|PMID:25741868 11923528 GATA4 GATA binding protein 4 gene DOID:0110107 atrial heart septal defect 2 ISO RGD:737140 D RGD:7240710 20180130 OMIM 11923528 GATA4 GATA binding protein 4 gene DOID:0110107 atrial heart septal defect 2 ISO RGD:737140 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Atrial septal defect 2 PMID:12845333|PMID:15810002|PMID:15863664|PMID:17548362|PMID:17576681|PMID:17643447|PMID:18055909|PMID:18076106|PMID:18672102|PMID:19302747|PMID:19678963|PMID:20347099|PMID:20659440|PMID:20854389|PMID:20874241|PMID:20981092|PMID:21110066|PMID:21519287|PMID:21637475|PMID:23138528|PMID:23626780|PMID:23696316|PMID:24033266|PMID:25741868|PMID:26490186|PMID:26997702|PMID:27374936|PMID:27391137|PMID:27535533|PMID:28132688|PMID:28492532|PMID:29377543|PMID:32719394|PMID:32748548|PMID:32992319|PMID:9536098 11923528 GATA4 GATA binding protein 4 gene DOID:0111101 maturity-onset diabetes of the young type 5 ISO RGD:737140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cysts and diabetes syndrome PMID:25741868|PMID:28492532 11923528 GATA4 GATA binding protein 4 gene DOID:0111772 46,XY sex reversal 3 ISO RGD:737140 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 3 | ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED PMID:17643447|PMID:18672102|PMID:19302747|PMID:19678963|PMID:21110066|PMID:21519287|PMID:22011241|PMID:24033266|PMID:25741868|PMID:26014430|PMID:26490186|PMID:26997702|PMID:27899157|PMID:28492532|PMID:29368431|PMID:32992319 11923528 GATA4 GATA binding protein 4 gene DOID:1059 intellectual disability ISO RGD:737140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11923528 GATA4 GATA binding protein 4 gene DOID:10907 microcephaly ISO RGD:737140 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:18672102|PMID:19302747|PMID:19678963|PMID:21110066|PMID:21519287|PMID:24033266|PMID:25741868|PMID:26490186|PMID:26997702|PMID:28492532|PMID:32992319 11923528 GATA4 GATA binding protein 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:737140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18076106|PMID:20874241|PMID:24033266|PMID:25741868|PMID:27374936|PMID:28492532 11923528 GATA4 GATA binding protein 4 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28492532|PMID:32748548 11923528 GATA4 GATA binding protein 4 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737140 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm PMID:25741868|PMID:28492532|PMID:32748548 11923528 GATA4 GATA binding protein 4 gene DOID:1574 alcohol use disorder ISO RGD:737140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20585342 11923528 GATA4 GATA binding protein 4 gene DOID:1657 ventricular septal defect ISO RGD:737140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11923528 GATA4 GATA binding protein 4 gene DOID:1682 congenital heart disease ISO RGD:737140 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital heart disease PMID:18055909|PMID:20347099|PMID:20981092|PMID:24000169|PMID:25741868|PMID:27426723|PMID:27535533|PMID:28492532|PMID:30152191|PMID:33116287 11923528 GATA4 GATA binding protein 4 gene DOID:1882 atrial heart septal defect ISO RGD:737140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868|PMID:28492532|PMID:30755392 11923528 GATA4 GATA binding protein 4 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:737140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23426975 11923528 GATA4 GATA binding protein 4 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:737141 D RGD:9068941 20220825 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 11923528 GATA4 GATA binding protein 4 gene DOID:5844 myocardial infarction ISO RGD:737140 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20200331 11923528 GATA4 GATA binding protein 4 gene DOID:5844 myocardial infarction treatment ISO RGD:2665 D RGD:9068941 20200609 RGD PMID:23948075|REF_RGD_ID:7327215 11923528 GATA4 GATA binding protein 4 gene DOID:630 genetic disease ISO RGD:737140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18055909|PMID:20981092|PMID:25741868|PMID:27535533|PMID:28492532|PMID:28798025 11923528 GATA4 GATA binding protein 4 gene DOID:6419 tetralogy of Fallot ISO RGD:737140 D RGD:7240710 20180130 OMIM 11923528 GATA4 GATA binding protein 4 gene DOID:6419 tetralogy of Fallot ISO RGD:737140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot PMID:17643447|PMID:18055909|PMID:18076106|PMID:18672102|PMID:19302747|PMID:19678963|PMID:20347099|PMID:20874241|PMID:20981092|PMID:21110066|PMID:21519287|PMID:23626780|PMID:24000169|PMID:24033266|PMID:25741868|PMID:26490186|PMID:26997702|PMID:27139165|PMID:27374936|PMID:27535533|PMID:28161810|PMID:28471988|PMID:28492532|PMID:29670578|PMID:30152191|PMID:31513339|PMID:32748548|PMID:32992319 11923528 GATA4 GATA binding protein 4 gene DOID:6420 pulmonary valve stenosis ISO RGD:737140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:18055909|PMID:20981092|PMID:25741868|PMID:27535533|PMID:28492532 11923528 GATA4 GATA binding protein 4 gene DOID:6432 pulmonary hypertension ISO RGD:2665 D RGD:9068941 20200609 RGD protein:increased expression:heart right ventricle PMID:21059997|REF_RGD_ID:7207053 11923528 GATA4 GATA binding protein 4 gene DOID:9003936 Cardiomegaly ISO RGD:737140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16259952|PMID:18252717 11923528 GATA4 GATA binding protein 4 gene DOID:9003959 Ventricular Septal Defect 1 ISO RGD:737140 D RGD:7240710 20180130 OMIM 11923528 GATA4 GATA binding protein 4 gene DOID:9003959 Ventricular Septal Defect 1 ISO RGD:737140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular septal defect 1 PMID:17643447|PMID:18076106|PMID:18672102|PMID:19302747|PMID:19678963|PMID:20347099|PMID:20874241|PMID:21110066|PMID:21519287|PMID:21631294|PMID:21637914|PMID:22101736|PMID:23626780|PMID:24033266|PMID:25741868|PMID:26490186|PMID:26997702|PMID:27139165|PMID:27374936|PMID:28161810|PMID:28471988|PMID:28492532|PMID:29377543|PMID:29670578|PMID:31513339|PMID:32748548|PMID:32992319 11923528 GATA4 GATA binding protein 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11923528 GATA4 GATA binding protein 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2665 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:heart PMID:22293779|REF_RGD_ID:7207042 11923528 GATA4 GATA binding protein 4 gene DOID:9006205 Animal Disease Models ISO RGD:737140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11923528 GATA4 GATA binding protein 4 gene DOID:9006760 Testicular Anomalies with or without Congenital Heart Disease ISO RGD:737140 D RGD:7240710 20180130 OMIM 11923528 GATA4 GATA binding protein 4 gene DOID:9006760 Testicular Anomalies with or without Congenital Heart Disease ISO RGD:737140 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Testicular anomalies with or without congenital heart disease PMID:15863664|PMID:17576681|PMID:17643447|PMID:18672102|PMID:19302747|PMID:19678963|PMID:20347099|PMID:20874241|PMID:21110066|PMID:21220346|PMID:21519287|PMID:23138528|PMID:23626780|PMID:23696316|PMID:24033266|PMID:25741868|PMID:26490186|PMID:26997702|PMID:27139165|PMID:27899157|PMID:28161810|PMID:28471988|PMID:28492532|PMID:29670578|PMID:29735817|PMID:30455927|PMID:31513339|PMID:32719394|PMID:32748548|PMID:32992319|PMID:9536098 11923528 GATA4 GATA binding protein 4 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737140 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31190750 11923528 GATA4 GATA binding protein 4 gene DOID:9007174 Ventricular Remodeling ISO RGD:737140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11923528 GATA4 GATA binding protein 4 gene DOID:9007396 Atrioventricular Septal Defect 4 ISO RGD:737140 D RGD:7240710 20180130 OMIM 11923528 GATA4 GATA binding protein 4 gene DOID:9007396 Atrioventricular Septal Defect 4 ISO RGD:737140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect 4 PMID:12845333|PMID:12939651|PMID:15235040|PMID:15863664|PMID:16199547|PMID:17352393|PMID:17576681|PMID:17592645|PMID:17643447|PMID:18055909|PMID:18076106|PMID:18672102|PMID:19302747|PMID:19353638|PMID:19678963|PMID:19915893|PMID:20347099|PMID:20450724|PMID:20659440|PMID:20854389|PMID:20874241|PMID:20981092|PMID:21055141|PMID:21110066|PMID:21220346|PMID:21276881|PMID:21373748|PMID:21519287|PMID:21631294|PMID:21637475|PMID:21834050|PMID:21933911|PMID:22011241|PMID:22318994|PMID:22498567|PMID:22648249|PMID:23138528|PMID:23239632|PMID:23626780|PMID:23696316|PMID:24033266|PMID:24127225|PMID:24696446|PMID:25205790|PMID:25516202|PMID:25741868|PMID:26014430|PMID:26490186|PMID:26997702|PMID:27139165|PMID:27374936|PMID:27391137|PMID:27418595|PMID:27426723|PMID:27535533|PMID:27810688|PMID:27899157|PMID:28132688|PMID:28161810|PMID:28471988|PMID:28492532|PMID:28798025|PMID:29368431|PMID:29377543|PMID:29670578|PMID:29735817|PMID:30152191|PMID:30293987|PMID:30455927|PMID:30755392|PMID:31322791|PMID:31513339|PMID:32719394|PMID:32748548|PMID:32901917|PMID:32992319|PMID:33865372|PMID:35063694|PMID:9536098 11923528 GATA4 GATA binding protein 4 gene DOID:9008217 Hemorrhage ISO RGD:737140 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31190750 11923528 GATA4 GATA binding protein 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:737140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19509152 11923528 GATA4 GATA binding protein 4 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:737140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18280291 11923528 GATA4 GATA binding protein 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737140 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus PMID:20854389|PMID:24033266|PMID:24696446|PMID:25741868|PMID:27810688|PMID:28492532|PMID:33865372 11923529 KATNB1 katanin regulatory subunit B1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1322615 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11923529 KATNB1 katanin regulatory subunit B1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1322615 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11923529 KATNB1 katanin regulatory subunit B1 gene DOID:0112236 lissencephaly 6 ISO RGD:1322615 D RGD:7240710 20180130 OMIM 11923529 KATNB1 katanin regulatory subunit B1 gene DOID:0112236 lissencephaly 6 ISO RGD:1322615 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lissencephaly 6 with microcephaly PMID:25521378|PMID:25521379|PMID:25741868|PMID:28492532 11923529 KATNB1 katanin regulatory subunit B1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1322615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11923529 KATNB1 katanin regulatory subunit B1 gene DOID:630 genetic disease ISO RGD:1322615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11923568 LOC100973061 cytochrome c oxidase subunit 7A1, mitochondrial gene DOID:0110222 Brugada syndrome 5 ISO RGD:1348243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11923568 LOC100973061 cytochrome c oxidase subunit 7A1, mitochondrial gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1348243 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11923568 LOC100973061 cytochrome c oxidase subunit 7A1, mitochondrial gene DOID:12930 dilated cardiomyopathy ISO RGD:1615204 D RGD:9068941 20220825 MouseDO 11923568 LOC100973061 cytochrome c oxidase subunit 7A1, mitochondrial gene DOID:630 genetic disease ISO RGD:1348243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11923581 MRAS muscle RAS oncogene homolog gene DOID:0080690 RASopathy ISO RGD:733433 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: RASopathy PMID:25741868|PMID:28289718|PMID:30348783|PMID:31108500|PMID:31638832 11923581 MRAS muscle RAS oncogene homolog gene DOID:0112169 Noonan syndrome 11 ISO RGD:733433 D RGD:7240710 20190731 OMIM 11923581 MRAS muscle RAS oncogene homolog gene DOID:0112169 Noonan syndrome 11 ISO RGD:733433 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Noonan syndrome 11 PMID:25252692|PMID:25741868|PMID:28289718|PMID:28492532|PMID:30348783|PMID:31108500|PMID:31173466|PMID:31638832 11923581 MRAS muscle RAS oncogene homolog gene DOID:3393 coronary artery disease ISO RGD:733433 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:21378990|PMID:35590109 11923581 MRAS muscle RAS oncogene homolog gene DOID:3407 carotid artery disease ISO RGD:733433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19198612 11923581 MRAS muscle RAS oncogene homolog gene DOID:630 genetic disease ISO RGD:733433 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28289718|PMID:28492532 11923581 MRAS muscle RAS oncogene homolog gene DOID:9000528 Coronary Disease ISO RGD:733433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 11923581 MRAS muscle RAS oncogene homolog gene DOID:9352 type 2 diabetes mellitus ISO RGD:733433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 11923602 PLAGL2 PLAG1 like zinc finger 2 gene DOID:630 genetic disease ISO RGD:1317514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11923609 SHISA4 shisa family member 4 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1323817 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11923609 SHISA4 shisa family member 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1323817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11923609 SHISA4 shisa family member 4 gene DOID:630 genetic disease ISO RGD:1323817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11923609 SHISA4 shisa family member 4 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1323817 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11923609 SHISA4 shisa family member 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11923623 BCL2L15 BCL2 like 15 gene DOID:0080690 RASopathy ISO RGD:1603456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11923623 BCL2L15 BCL2 like 15 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1603456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 11923623 BCL2L15 BCL2 like 15 gene DOID:630 genetic disease ISO RGD:1603456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11923631 GTF2I general transcription factor IIi gene DOID:0060041 autism spectrum disorder ISO RGD:1347498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 11923631 GTF2I general transcription factor IIi gene DOID:0060224 atrial fibrillation ISO RGD:1347498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11923631 GTF2I general transcription factor IIi gene DOID:10923 sickle cell anemia ISO RGD:1347498 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 11923631 GTF2I general transcription factor IIi gene DOID:12849 autistic disorder ISO RGD:1347498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11923631 GTF2I general transcription factor IIi gene DOID:12894 Sjogren's syndrome ISO RGD:1347498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097066 11923631 GTF2I general transcription factor IIi gene DOID:1928 Williams-Beuren syndrome ISO RGD:1347498 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 11923631 GTF2I general transcription factor IIi gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11923631 GTF2I general transcription factor IIi gene DOID:5419 schizophrenia ISO RGD:1347498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11923631 GTF2I general transcription factor IIi gene DOID:630 genetic disease ISO RGD:1347498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11923631 GTF2I general transcription factor IIi gene DOID:8445 intestinal volvulus ISO RGD:1347498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11923631 GTF2I general transcription factor IIi gene DOID:9000048 Thymic Epithelial Tumor ISO RGD:1347498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24974848 11923631 GTF2I general transcription factor IIi gene DOID:9002775 Cognitive Dysfunction ISO RGD:1347498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:32349160 11923631 GTF2I general transcription factor IIi gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11923631 GTF2I general transcription factor IIi gene DOID:9008419 Volvulus Of Midgut ISO RGD:1347498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11923631 GTF2I general transcription factor IIi gene DOID:9119 acute myeloid leukemia ISO RGD:1347498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 11923660 CLDN10 claudin 10 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1317558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 11923660 CLDN10 claudin 10 gene DOID:1790 malignant mesothelioma ISO RGD:1317558 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:28377727 11923660 CLDN10 claudin 10 gene DOID:4500 hypokalemia ISO RGD:1317558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokalemia PMID:25741868 11923660 CLDN10 claudin 10 gene DOID:630 genetic disease ISO RGD:1317558 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11923660 CLDN10 claudin 10 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1317558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11923660 CLDN10 claudin 10 gene DOID:9007180 HELIX syndrome ISO RGD:1317558 D RGD:7240710 20190315 OMIM 11923660 CLDN10 claudin 10 gene DOID:9007180 HELIX syndrome ISO RGD:1317558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HELIX syndrome PMID:25741868|PMID:25741903|PMID:28686597|PMID:28771254|PMID:32860008 11923678 FUBP1 far upstream element binding protein 1 gene DOID:0050865 tongue squamous cell carcinoma exacerbates ISO RGD:1344155 D RGD:9068941 20220303 RGD mRNA, protein:increased expression:tongue (human) PMID:32339054|REF_RGD_ID:151361191 11923678 FUBP1 far upstream element binding protein 1 gene DOID:0080199 colorectal carcinoma ISO RGD:1344155 D RGD:9068941 20220303 RGD mRNA, protein:increased expression:colorectum (human) PMID:25030436|REF_RGD_ID:151361190 11923678 FUBP1 far upstream element binding protein 1 gene DOID:0081292 traumatic brain injury ISO RGD:1591892 D RGD:9068941 20200609 RGD PMID:23797733|REF_RGD_ID:13673879 11923678 FUBP1 far upstream element binding protein 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1344155 D RGD:9068941 20220324 RGD mRNA:increased expression:stomach (human) PMID:24192769|REF_RGD_ID:151665342 11923678 FUBP1 far upstream element binding protein 1 gene DOID:10534 stomach cancer treatment ISO RGD:1344155 D RGD:9068941 20220303 RGD PMID:28667493|REF_RGD_ID:151361189 11923678 FUBP1 far upstream element binding protein 1 gene DOID:11446 sciatic neuropathy ISO RGD:1591892 D RGD:9068941 20200609 RGD PMID:23939805|REF_RGD_ID:13673880 11923678 FUBP1 far upstream element binding protein 1 gene DOID:1612 breast cancer exacerbates ISO RGD:1344155 D RGD:9068941 20220303 RGD protein:increased expression:breast (human) PMID:27157613|REF_RGD_ID:151361193 11923678 FUBP1 far upstream element binding protein 1 gene DOID:2152 ovary epithelial cancer ISO RGD:1344155 D RGD:9068941 20220303 RGD protein:increased expression:epithelium of female gonad (human) PMID:30008853|REF_RGD_ID:151361195 11923678 FUBP1 far upstream element binding protein 1 gene DOID:2152 ovary epithelial cancer exacerbates ISO RGD:1344155 D RGD:9068941 20220317 RGD protein:increased expression:epithelium of female gonad (human) PMID:29113212|REF_RGD_ID:151665180 11923678 FUBP1 far upstream element binding protein 1 gene DOID:3007 breast ductal carcinoma ISO RGD:1344155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 11923678 FUBP1 far upstream element binding protein 1 gene DOID:3069 malignant astrocytoma ISO RGD:1344155 D RGD:9068941 20220303 RGD mRNA:increased expression:brain (human) PMID:32481602|REF_RGD_ID:151361197 11923678 FUBP1 far upstream element binding protein 1 gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:1344155 D RGD:9068941 20220303 RGD mRNA:increased expression:pancreatic duct (human) PMID:32481602|REF_RGD_ID:151361197 11923678 FUBP1 far upstream element binding protein 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1344155 D RGD:9068941 20220303 RGD mRNA:increased expression:esophagus (human) PMID:32481602|REF_RGD_ID:151361197 11923678 FUBP1 far upstream element binding protein 1 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:1344155 D RGD:9068941 20220303 RGD protein:increased expression:esophagus (human) PMID:26490982|REF_RGD_ID:151361192 11923678 FUBP1 far upstream element binding protein 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1344155 D RGD:9068941 20220303 RGD mRNA:decreased expression:lung (human) PMID:32481602|REF_RGD_ID:151361197 11923678 FUBP1 far upstream element binding protein 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1344155 D RGD:9068941 20220303 RGD mRNA:decreased expression:lung (human) PMID:32481602|REF_RGD_ID:151361197 11923678 FUBP1 far upstream element binding protein 1 gene DOID:5082 liver cirrhosis ISO RGD:1344155 D RGD:9068941 20220303 RGD associated with Chronic Hepatitis C;mRNA:increased expression:liver (human) PMID:25995247|REF_RGD_ID:151361196 11923678 FUBP1 far upstream element binding protein 1 gene DOID:630 genetic disease ISO RGD:1344155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11923678 FUBP1 far upstream element binding protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1344155 D RGD:9068941 20220303 RGD associated with Chronic Hepatitis C;mRNA:increased expression:liver (human) PMID:25995247|REF_RGD_ID:151361196 11923678 FUBP1 far upstream element binding protein 1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1344155 D RGD:9068941 20220303 RGD human cell line in a mouse model PMID:19637194|REF_RGD_ID:151361194 11923678 FUBP1 far upstream element binding protein 1 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1344155 D RGD:9068941 20220303 RGD mRNA:increased expression:liver (human) PMID:31587040|REF_RGD_ID:151361188 11923678 FUBP1 far upstream element binding protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1344155 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35915169 11923678 FUBP1 far upstream element binding protein 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:1344155 D RGD:9068941 20220303 RGD mRNA:increased expression:oral cavity (human) PMID:32481602|REF_RGD_ID:151361197 11923678 FUBP1 far upstream element binding protein 1 gene DOID:9261 nasopharynx carcinoma exacerbates ISO RGD:1344155 D RGD:9068941 20220303 RGD protein:increased expression:nasopharynx (human) PMID:26469968|REF_RGD_ID:11343512 11923720 PTPRQ protein tyrosine phosphatase receptor type Q gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1345897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587 11923720 PTPRQ protein tyrosine phosphatase receptor type Q gene DOID:0080269 autosomal dominant nonsyndromic deafness 73 ISO RGD:1345897 D RGD:7240710 20190315 OMIM 11923720 PTPRQ protein tyrosine phosphatase receptor type Q gene DOID:0080269 autosomal dominant nonsyndromic deafness 73 ISO RGD:1345897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 73 | ClinVar Annotator: match by term: Deafness, autosomal dominant 73 PMID:25741868|PMID:26467025|PMID:29309402 11923720 PTPRQ protein tyrosine phosphatase receptor type Q gene DOID:0110529 autosomal recessive nonsyndromic deafness 84A ISO RGD:1345897 D RGD:7240710 20180130 OMIM 11923720 PTPRQ protein tyrosine phosphatase receptor type Q gene DOID:0110529 autosomal recessive nonsyndromic deafness 84A ISO RGD:1345897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION | ClinVar Annotator: match by term: Deafness, autosomal recessive 84 PMID:20346435|PMID:25741868|PMID:26467025 11923720 PTPRQ protein tyrosine phosphatase receptor type Q gene DOID:0111223 centronuclear myopathy 1 ISO RGD:1345897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 3 PMID:28492532 11923720 PTPRQ protein tyrosine phosphatase receptor type Q gene DOID:10003 sensorineural hearing loss ISO RGD:1345897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 11923720 PTPRQ protein tyrosine phosphatase receptor type Q gene DOID:630 genetic disease ISO RGD:1345897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11923720 PTPRQ protein tyrosine phosphatase receptor type Q gene DOID:9004538 Hearing Loss ISO RGD:1345897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:30311386 11923720 PTPRQ protein tyrosine phosphatase receptor type Q gene DOID:9008681 Deafness ISO RGD:1345897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 11923768 PEAK3 PEAK family member 3 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1352021 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 11923768 PEAK3 PEAK family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11923773 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1348755 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11923773 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:0050476 Barth syndrome ISO RGD:1348755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria PMID:10480214|PMID:11238270|PMID:11748843|PMID:11968085|PMID:15793838|PMID:16199547|PMID:16427346|PMID:16601897|PMID:16684786|PMID:1719174|PMID:17576681|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22410210|PMID:23409742|PMID:23660394|PMID:24033266|PMID:24365856|PMID:24962355|PMID:25652404|PMID:25741868|PMID:26471271|PMID:26845103|PMID:28492532|PMID:29334594|PMID:31333075|PMID:31568572|PMID:9345098|PMID:9384614|PMID:9536098 11923773 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:0050700 cardiomyopathy ISO RGD:1348755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 11923773 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:1348755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11923773 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11923773 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:0081164 dilated cardiomyopathy 3B ISO RGD:1348755 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 3B 11923773 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1348755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 11923773 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1348755 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11923773 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1348755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11923773 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1348755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11923773 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:12849 autistic disorder ISO RGD:1348755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11923773 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:12929 endocardial fibroelastosis ISO RGD:1348755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endocardial fibroelastosis 11923773 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy 11923773 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:13628 favism ISO RGD:1348755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11923773 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1348755 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11923773 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:607 paraplegia ISO RGD:1348755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11923773 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:630 genetic disease ISO RGD:1348755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11923773 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1348755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:31333075|PMID:31568572 11923773 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:9002720 Splenomegaly ISO RGD:1348755 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11923793 SMG8 SMG8 nonsense mediated mRNA decay factor gene DOID:0050777 Joubert syndrome ISO RGD:1602698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11923793 SMG8 SMG8 nonsense mediated mRNA decay factor gene DOID:630 genetic disease ISO RGD:1602698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11923793 SMG8 SMG8 nonsense mediated mRNA decay factor gene DOID:9005217 ALZAHRANI-KUWAHARA SYNDROME ISO RGD:1602698 D RGD:7240710 20210512 OMIM 11923793 SMG8 SMG8 nonsense mediated mRNA decay factor gene DOID:9005217 ALZAHRANI-KUWAHARA SYNDROME ISO RGD:1602698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzahrani-Kuwahara syndrome PMID:33242396 11923802 BUD31 BUD31 homolog gene DOID:1395 schistosomiasis ISO RGD:621103 D RGD:9068941 20200609 RGD Protein:increased expression:serum (human) PMID:22686541|REF_RGD_ID:10058982 11923802 BUD31 BUD31 homolog gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11923802 BUD31 BUD31 homolog gene DOID:630 genetic disease ISO RGD:1604400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11923819 VPS45 vacuolar protein sorting 45 homolog gene DOID:0111940 immunodeficiency 42 ISO RGD:732754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11923819 VPS45 vacuolar protein sorting 45 homolog gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732754 D RGD:7240710 20180130 OMIM 11923819 VPS45 vacuolar protein sorting 45 homolog gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:17576681|PMID:23599270|PMID:23738510|PMID:25640679|PMID:25741868|PMID:26358756|PMID:28492532|PMID:30294941|PMID:32037586|PMID:9536098 11923819 VPS45 vacuolar protein sorting 45 homolog gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11923819 VPS45 vacuolar protein sorting 45 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:732754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11923819 VPS45 vacuolar protein sorting 45 homolog gene DOID:5812 MHC class II deficiency ISO RGD:732754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11923819 VPS45 vacuolar protein sorting 45 homolog gene DOID:630 genetic disease ISO RGD:732754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11923819 VPS45 vacuolar protein sorting 45 homolog gene DOID:9006561 Familial Myelofibrosis ISO RGD:732754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23599270 11923819 VPS45 vacuolar protein sorting 45 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11923844 SENP6 SUMO specific peptidase 6 gene DOID:630 genetic disease ISO RGD:1312076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11923844 SENP6 SUMO specific peptidase 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 11923888 MCEE methylmalonyl-CoA epimerase gene DOID:14749 methylmalonic acidemia ISO RGD:1320595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia 11923888 MCEE methylmalonyl-CoA epimerase gene DOID:543 dystonia ISO RGD:1320595 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11923888 MCEE methylmalonyl-CoA epimerase gene DOID:630 genetic disease ISO RGD:1320595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16697227|PMID:16752391|PMID:17823972|PMID:25741868|PMID:25763508|PMID:25954003|PMID:27618451|PMID:27699154|PMID:28490743|PMID:28492532|PMID:29104221|PMID:30682498|PMID:31146325 11923888 MCEE methylmalonyl-CoA epimerase gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1320595 D RGD:7240710 20180130 OMIM 11923888 MCEE methylmalonyl-CoA epimerase gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1320595 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:17823972|PMID:22522443|PMID:23542699|PMID:24033266|PMID:25741868|PMID:25763508|PMID:25954003|PMID:27618451|PMID:27699154|PMID:28490743|PMID:28492532|PMID:29104221|PMID:30682498|PMID:31146325 11923899 RIPK4 receptor interacting serine/threonine kinase 4 gene DOID:0060055 popliteal pterygium syndrome ISO RGD:1323281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Popliteal pterygium syndrome 11923899 RIPK4 receptor interacting serine/threonine kinase 4 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1323281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11923899 RIPK4 receptor interacting serine/threonine kinase 4 gene DOID:0110266 cataract 9 multiple types ISO RGD:1323281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11923899 RIPK4 receptor interacting serine/threonine kinase 4 gene DOID:630 genetic disease ISO RGD:1323281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11923899 RIPK4 receptor interacting serine/threonine kinase 4 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1323281 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11923899 RIPK4 receptor interacting serine/threonine kinase 4 gene DOID:9001939 Bartsocas-Papas Syndrome 1 ISO RGD:1323281 D RGD:7240710 20180130 OMIM 11923899 RIPK4 receptor interacting serine/threonine kinase 4 gene DOID:9001939 Bartsocas-Papas Syndrome 1 ISO RGD:1323281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bartsocas-Papas syndrome 1 PMID:10925380|PMID:15264293|PMID:22197488|PMID:22197489|PMID:23074676|PMID:23610050|PMID:25326635|PMID:25741868|PMID:26752647|PMID:28492532|PMID:28940926 11923899 RIPK4 receptor interacting serine/threonine kinase 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11923899 RIPK4 receptor interacting serine/threonine kinase 4 gene DOID:9008620 Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome ISO RGD:1323281 D RGD:7240710 20221207 OMIM 11923899 RIPK4 receptor interacting serine/threonine kinase 4 gene DOID:9008620 Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome ISO RGD:1323281 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Curly hair, ankyloblepharon, nail dysplasia syndrome PMID:23610050|PMID:25326635|PMID:25741868|PMID:26129644|PMID:28492532|PMID:28940926 11923899 RIPK4 receptor interacting serine/threonine kinase 4 gene DOID:9263 homocystinuria ISO RGD:1323281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11923899 RIPK4 receptor interacting serine/threonine kinase 4 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1323281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11923911 PSMC2 proteasome 26S subunit, ATPase 2 gene DOID:0060902 Norman-Roberts syndrome ISO RGD:732979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:10973257|PMID:17124408|PMID:26046367|PMID:28454995|PMID:28492532 11923911 PSMC2 proteasome 26S subunit, ATPase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11923911 PSMC2 proteasome 26S subunit, ATPase 2 gene DOID:630 genetic disease ISO RGD:732979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11923927 PGAM4 phosphoglycerate mutase family member 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11923927 PGAM4 phosphoglycerate mutase family member 4 gene DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ISO RGD:1604671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia PMID:24550228|PMID:28492532 11923927 PGAM4 phosphoglycerate mutase family member 4 gene DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ISO RGD:1604671 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome PMID:28492532 11923927 PGAM4 phosphoglycerate mutase family member 4 gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:1604671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked PMID:26242992 11923927 PGAM4 phosphoglycerate mutase family member 4 gene DOID:12849 autistic disorder ISO RGD:1604671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11923927 PGAM4 phosphoglycerate mutase family member 4 gene DOID:1838 Menkes disease ISO RGD:1604671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Menkes kinky-hair syndrome PMID:28492532 11923927 PGAM4 phosphoglycerate mutase family member 4 gene DOID:630 genetic disease ISO RGD:1604671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11923932 ZNF24 zinc finger protein 24 gene DOID:1059 intellectual disability ISO RGD:1344102 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11923932 ZNF24 zinc finger protein 24 gene DOID:630 genetic disease ISO RGD:1344102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11923943 SLC24A5 solute carrier family 24 member 5 gene DOID:0050632 oculocutaneous albinism ISO RGD:1321543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:16199547|PMID:23985994|PMID:24033266|PMID:26686029|PMID:28492532 11923943 SLC24A5 solute carrier family 24 member 5 gene DOID:0050633 ocular albinism ISO RGD:1553523 D RGD:9068941 20220825 MouseDO OMIM:300500 11923943 SLC24A5 solute carrier family 24 member 5 gene DOID:0080614 oculocutaneous albinism type VI ISO RGD:1321543 D RGD:7240710 20180130 OMIM 11923943 SLC24A5 solute carrier family 24 member 5 gene DOID:0080614 oculocutaneous albinism type VI ISO RGD:1321543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Albinism, oculocutaneous, type VI PMID:23364476|PMID:23985994|PMID:25741868|PMID:26491832|PMID:26686029|PMID:28492532|PMID:31077556 11923943 SLC24A5 solute carrier family 24 member 5 gene DOID:14323 Marfan syndrome ISO RGD:1321543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:21063442|PMID:25741868|PMID:26787436|PMID:28492532 11923943 SLC24A5 solute carrier family 24 member 5 gene DOID:2717 Bloom syndrome ISO RGD:1321543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11923943 SLC24A5 solute carrier family 24 member 5 gene DOID:630 genetic disease ISO RGD:1321543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23985994|PMID:26686029|PMID:28492532 11923943 SLC24A5 solute carrier family 24 member 5 gene DOID:9001735 Skin/Hair/Eye Pigmentation, Variation In, 4 ISO RGD:1321543 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 4 PMID:16357253|PMID:17999355|PMID:23010199|PMID:25741868|PMID:29025994 11923943 SLC24A5 solute carrier family 24 member 5 gene DOID:9256 colorectal cancer ISO RGD:1321543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11923963 WIF1 WNT inhibitory factor 1 gene DOID:0050685 small cell carcinoma ISO RGD:731989 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:14517837|REF_RGD_ID:727214 11923963 WIF1 WNT inhibitory factor 1 gene DOID:10283 prostate cancer ISO RGD:731989 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:prostate gland PMID:14517837|REF_RGD_ID:727214 11923963 WIF1 WNT inhibitory factor 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:731989 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:18325051|REF_RGD_ID:2291868 11923963 WIF1 WNT inhibitory factor 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:731989 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:14517837|REF_RGD_ID:727214 11923963 WIF1 WNT inhibitory factor 1 gene DOID:1612 breast cancer ISO RGD:731989 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:16501252|REF_RGD_ID:2291871 11923963 WIF1 WNT inhibitory factor 1 gene DOID:2154 nephroblastoma ISO RGD:731989 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:16575872|REF_RGD_ID:2291870 11923963 WIF1 WNT inhibitory factor 1 gene DOID:2999 granulosa cell tumor ISO RGD:1552191 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:16488995|REF_RGD_ID:1643593 11923963 WIF1 WNT inhibitory factor 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:731989 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:14517837|REF_RGD_ID:727214 11923963 WIF1 WNT inhibitory factor 1 gene DOID:4450 renal cell carcinoma ISO RGD:731989 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:17145819|REF_RGD_ID:2291869 11923963 WIF1 WNT inhibitory factor 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:731989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11923963 WIF1 WNT inhibitory factor 1 gene DOID:630 genetic disease ISO RGD:731989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11923963 WIF1 WNT inhibitory factor 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:731989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17384664 11923963 WIF1 WNT inhibitory factor 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:731989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11923963 WIF1 WNT inhibitory factor 1 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:731989 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:16436637|REF_RGD_ID:2298535 11923963 WIF1 WNT inhibitory factor 1 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:731989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17384664 11923963 WIF1 WNT inhibitory factor 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:731989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17923031 11923977 KCNK10 potassium two pore domain channel subfamily K member 10 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:732934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:28492532 11923977 KCNK10 potassium two pore domain channel subfamily K member 10 gene DOID:2316 brain ischemia ISO RGD:619732 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex, hippocampus (rat) PMID:15652517|REF_RGD_ID:9831167 11923977 KCNK10 potassium two pore domain channel subfamily K member 10 gene DOID:630 genetic disease ISO RGD:732934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11923977 KCNK10 potassium two pore domain channel subfamily K member 10 gene DOID:9008681 Deafness ISO RGD:619732 D RGD:9068941 20200609 RGD mRNA:decreased expression:inferior colliculus (rat) PMID:17884299|REF_RGD_ID:2316516 11923993 PARP3 poly(ADP-ribose) polymerase family member 3 gene DOID:630 genetic disease ISO RGD:1604647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11924019 TSPOAP1 TSPO associated protein 1 gene DOID:0050777 Joubert syndrome ISO RGD:1346920 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11924019 TSPOAP1 TSPO associated protein 1 gene DOID:0080600 COVID-19 ISO RGD:1346920 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11924019 TSPOAP1 TSPO associated protein 1 gene DOID:1059 intellectual disability ISO RGD:1346920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:33539324 11924019 TSPOAP1 TSPO associated protein 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1346920 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868 11924019 TSPOAP1 TSPO associated protein 1 gene DOID:630 genetic disease ISO RGD:1346920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11924019 TSPOAP1 TSPO associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346920 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33539324 11924077 PTMA prothymosin alpha gene DOID:0060476 Perlman syndrome ISO RGD:733876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11924077 PTMA prothymosin alpha gene DOID:0080322 polycystic kidney disease ISO RGD:62120 D RGD:9068941 20220825 MouseDO 11924077 PTMA prothymosin alpha gene DOID:0110991 Joubert syndrome 22 ISO RGD:733876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11924077 PTMA prothymosin alpha gene DOID:3247 rhabdomyosarcoma ISO RGD:733876 D RGD:9068941 20200618 CTD CTD Direct Evidence: marker/mechanism PMID:16669873 11924077 PTMA prothymosin alpha gene DOID:630 genetic disease ISO RGD:733876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11924077 PTMA prothymosin alpha gene DOID:657 adenoma ISO RGD:733876 D RGD:9068941 20200618 CTD CTD Direct Evidence: therapeutic PMID:10822126 11924077 PTMA prothymosin alpha gene DOID:9005172 Lung Neoplasms ISO RGD:733876 D RGD:9068941 20200618 CTD CTD Direct Evidence: therapeutic PMID:10822126 11924077 PTMA prothymosin alpha gene DOID:9452 fatty liver disease ISO RGD:733876 D RGD:9068941 20200618 CTD CTD Direct Evidence: therapeutic PMID:15885234 11924077 PTMA prothymosin alpha gene DOID:9675 pulmonary emphysema ISO RGD:62120 D RGD:9068941 20220825 MouseDO OMIM:130700 11924092 TFB2M transcription factor B2, mitochondrial gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1316077 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11924092 TFB2M transcription factor B2, mitochondrial gene DOID:1540 parathyroid carcinoma ISO RGD:1316077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11924092 TFB2M transcription factor B2, mitochondrial gene DOID:630 genetic disease ISO RGD:1316077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11924092 TFB2M transcription factor B2, mitochondrial gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11924104 HK3 hexokinase 3 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:736939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11924104 HK3 hexokinase 3 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:736939 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11924104 HK3 hexokinase 3 gene DOID:0112103 Sotos syndrome 1 ISO RGD:736939 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 11924104 HK3 hexokinase 3 gene DOID:2843 long QT syndrome ISO RGD:736939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11924104 HK3 hexokinase 3 gene DOID:409 liver disease ISO RGD:736939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11924104 HK3 hexokinase 3 gene DOID:630 genetic disease ISO RGD:736939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11924104 HK3 hexokinase 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:736939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11924104 HK3 hexokinase 3 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:736939 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 11924135 FAIM Fas apoptotic inhibitory molecule gene DOID:630 genetic disease ISO RGD:1605660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11924154 BTG3 BTG anti-proliferation factor 3 gene DOID:10652 Alzheimer's disease ISO RGD:733952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 11924154 BTG3 BTG anti-proliferation factor 3 gene DOID:13580 cholestasis ISO RGD:733952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 11924154 BTG3 BTG anti-proliferation factor 3 gene DOID:4450 renal cell carcinoma ISO RGD:733952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19221000 11924154 BTG3 BTG anti-proliferation factor 3 gene DOID:630 genetic disease ISO RGD:733952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11924154 BTG3 BTG anti-proliferation factor 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:733952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11924154 BTG3 BTG anti-proliferation factor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11924172 CLDN9 claudin 9 gene DOID:0050563 nonsyndromic deafness ISO RGD:1319096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:25741868 11924172 CLDN9 claudin 9 gene DOID:0060744 Pendred syndrome ISO RGD:1319096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:30311386|PMID:35802133|PMID:36633841 11924172 CLDN9 claudin 9 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1319096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11924172 CLDN9 claudin 9 gene DOID:0112162 autosomal recessive nonsyndromic deafness 116 ISO RGD:1319096 D RGD:7240710 20201202 OMIM 11924172 CLDN9 claudin 9 gene DOID:0112162 autosomal recessive nonsyndromic deafness 116 ISO RGD:1319096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 116 PMID:25741868|PMID:30311386|PMID:31175426|PMID:35802133|PMID:36633841 11924172 CLDN9 claudin 9 gene DOID:1826 epilepsy ISO RGD:1319096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11924172 CLDN9 claudin 9 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319096 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11924172 CLDN9 claudin 9 gene DOID:630 genetic disease ISO RGD:1319096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11924172 CLDN9 claudin 9 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11924172 CLDN9 claudin 9 gene DOID:9004538 Hearing Loss ISO RGD:1319096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss PMID:25741868|PMID:30311386|PMID:31175426 11924178 TGM2 transglutaminase 2 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:732488 D RGD:9068941 20220825 MouseDO OMIM:606391 11924178 TGM2 transglutaminase 2 gene DOID:10608 celiac disease ISO RGD:732487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17190764 11924178 TGM2 transglutaminase 2 gene DOID:10763 hypertension ISO RGD:732487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17898543 11924178 TGM2 transglutaminase 2 gene DOID:1793 pancreatic cancer ISO RGD:732487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30108682 11924178 TGM2 transglutaminase 2 gene DOID:2234 focal epilepsy ISO RGD:732487 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11924178 TGM2 transglutaminase 2 gene DOID:3068 glioblastoma ISO RGD:732487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16170020|PMID:17099729 11924178 TGM2 transglutaminase 2 gene DOID:4450 renal cell carcinoma ISO RGD:732487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 11924178 TGM2 transglutaminase 2 gene DOID:5082 liver cirrhosis severity ISO RGD:732488 D RGD:9068941 20201015 RGD associated with Schistosomiasis Japonica PMID:31200771|REF_RGD_ID:39938956 11924178 TGM2 transglutaminase 2 gene DOID:5082 liver cirrhosis treatment ISO RGD:732488 D RGD:9068941 20201015 RGD associated with Schistosomiasis Japonica PMID:31200771|REF_RGD_ID:39938956 11924178 TGM2 transglutaminase 2 gene DOID:630 genetic disease ISO RGD:732487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11924178 TGM2 transglutaminase 2 gene DOID:8398 osteoarthritis ISO RGD:732487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11924178 TGM2 transglutaminase 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:732487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17068819 11924178 TGM2 transglutaminase 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:621081 D RGD:9068941 20200609 RGD PMID:12702643|REF_RGD_ID:1302539 11924178 TGM2 transglutaminase 2 gene DOID:9007502 Brain Neoplasms ISO RGD:732487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16170020 11924178 TGM2 transglutaminase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579870 11924195 UBTD1 ubiquitin domain containing 1 gene DOID:630 genetic disease ISO RGD:1317795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11924202 PTTG2 pituitary tumor-transforming 2 gene DOID:630 genetic disease ISO RGD:1315534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11924207 KRT8 keratin 8 gene DOID:0050589 inflammatory bowel disease ISO RGD:735536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:15090596|PMID:25741868 11924207 KRT8 keratin 8 gene DOID:0060071 pre-malignant neoplasm ISO RGD:735536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11924207 KRT8 keratin 8 gene DOID:1883 hepatitis C ISO RGD:735536 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hepatitis C virus, susceptibility to PMID:11372009|PMID:15090596|PMID:15235035|PMID:25741868|PMID:28492532|PMID:33116287 11924207 KRT8 keratin 8 gene DOID:299 adenocarcinoma ISO RGD:735536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 11924207 KRT8 keratin 8 gene DOID:4450 renal cell carcinoma ISO RGD:735536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 11924207 KRT8 keratin 8 gene DOID:5082 liver cirrhosis ISO RGD:735536 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20538000 11924207 KRT8 keratin 8 gene DOID:5082 liver cirrhosis ISO RGD:735536 D RGD:9068941 20200609 RGD PMID:11372009|REF_RGD_ID:1600062 11924207 KRT8 keratin 8 gene DOID:5082 liver cirrhosis ISO RGD:735536 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver (human) PMID:15368451|REF_RGD_ID:14401583 11924207 KRT8 keratin 8 gene DOID:630 genetic disease ISO RGD:735536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11924207 KRT8 keratin 8 gene DOID:9000217 Stomach Neoplasms ISO RGD:735536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 11924207 KRT8 keratin 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 11924207 KRT8 keratin 8 gene DOID:9004017 Chronic Hepatitis C ISO RGD:735536 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver (human) PMID:15368451|REF_RGD_ID:14401583 11924207 KRT8 keratin 8 gene DOID:9004590 Acute Liver Failure ISO RGD:735536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20538000 11924207 KRT8 keratin 8 gene DOID:9005167 Cryptogenic Cirrhosis ISO RGD:735536 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cirrhosis, cryptogenic PMID:11372009|PMID:12724528|PMID:15235035|PMID:33116287|PMID:9011570 11924207 KRT8 keratin 8 gene DOID:9007188 Liver Neoplasms ISO RGD:735536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19409407|PMID:19796649 11924207 KRT8 keratin 8 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11924207 KRT8 keratin 8 gene DOID:9007543 Familial Cirrhosis ISO RGD:735536 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cirrhosis, familial | ClinVar Annotator: match by term: Cirrhosis, noncryptogenic, susceptibility to PMID:12724528|PMID:25741868|PMID:9011570 11924207 KRT8 keratin 8 gene DOID:9008691 Liver Injury susceptibility ISO RGD:735536 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.S73A (human gene in a mouse model) PMID:16818723|REF_RGD_ID:14398758 11924207 KRT8 keratin 8 gene DOID:9008939 Breast Neoplasms ISO RGD:735536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20061804 11924234 SRP14 signal recognition particle 14 gene DOID:2717 Bloom syndrome ISO RGD:1318313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11924234 SRP14 signal recognition particle 14 gene DOID:630 genetic disease ISO RGD:1318313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11924234 SRP14 signal recognition particle 14 gene DOID:9256 colorectal cancer ISO RGD:1318313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11924243 FTCDNL1 formiminotransferase cyclodeaminase N-terminal like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:7245836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11924255 RAPGEFL1 Rap guanine nucleotide exchange factor like 1 gene DOID:0090063 familial cold autoinflammatory syndrome 2 ISO RGD:1347798 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 11924255 RAPGEFL1 Rap guanine nucleotide exchange factor like 1 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1347798 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 11924255 RAPGEFL1 Rap guanine nucleotide exchange factor like 1 gene DOID:10283 prostate cancer ISO RGD:1347798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11924255 RAPGEFL1 Rap guanine nucleotide exchange factor like 1 gene DOID:630 genetic disease ISO RGD:1347798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11924277 CPM carboxypeptidase M gene DOID:10325 silicosis ISO RGD:1321490 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24986923 11924277 CPM carboxypeptidase M gene DOID:289 endometriosis ISO RGD:1321490 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11924277 CPM carboxypeptidase M gene DOID:630 genetic disease ISO RGD:1321490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11924290 CNGB1 cyclic nucleotide gated channel subunit beta 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:732601 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11924290 CNGB1 cyclic nucleotide gated channel subunit beta 1 gene DOID:0110377 retinitis pigmentosa 49 ISO RGD:732601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 49 PMID:23661369|PMID:24938718|PMID:25741868|PMID:28492532 11924290 CNGB1 cyclic nucleotide gated channel subunit beta 1 gene DOID:0110402 retinitis pigmentosa 45 ISO RGD:732601 D RGD:7240710 20180130 OMIM 11924290 CNGB1 cyclic nucleotide gated channel subunit beta 1 gene DOID:0110402 retinitis pigmentosa 45 ISO RGD:732601 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 45 PMID:11379879|PMID:15557452|PMID:16199547|PMID:17032466|PMID:17576681|PMID:21147909|PMID:21987686|PMID:23105016|PMID:23484092|PMID:23661369|PMID:24043777|PMID:24339724|PMID:24938718|PMID:25324289|PMID:25412400|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29202463|PMID:29597005|PMID:29800053|PMID:29912909|PMID:30718709|PMID:31054281|PMID:31931872|PMID:31960602|PMID:31980526|PMID:32037395|PMID:33546218|PMID:33847019|PMID:33946315|PMID:9536098 11924290 CNGB1 cyclic nucleotide gated channel subunit beta 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:732601 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11924290 CNGB1 cyclic nucleotide gated channel subunit beta 1 gene DOID:10584 retinitis pigmentosa ISO RGD:732601 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11379879|PMID:15557452|PMID:16199547|PMID:17576681|PMID:21147909|PMID:21987686|PMID:22025579|PMID:23105016|PMID:23484092|PMID:23661369|PMID:24043777|PMID:24339724|PMID:24938718|PMID:25324289|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29202463|PMID:29912909|PMID:30718709|PMID:30902645|PMID:32037395|PMID:33546218|PMID:9536098 11924290 CNGB1 cyclic nucleotide gated channel subunit beta 1 gene DOID:10584 retinitis pigmentosa ISO RGD:732601 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11379879|PMID:15557452|PMID:16199547|PMID:17576681|PMID:21147909|PMID:21987686|PMID:22025579|PMID:23105016|PMID:23661369|PMID:24043777|PMID:24938718|PMID:25324289|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29912909|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31570810|PMID:32037395|PMID:32613137|PMID:33546218|PMID:33576794|PMID:9536098 11924290 CNGB1 cyclic nucleotide gated channel subunit beta 1 gene DOID:10584 retinitis pigmentosa ISO RGD:732601 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11379879|PMID:15557452|PMID:16199547|PMID:17576681|PMID:21147909|PMID:21987686|PMID:22025579|PMID:23105016|PMID:23661369|PMID:24043777|PMID:24938718|PMID:25324289|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29912909|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31570810|PMID:32037395|PMID:32613137|PMID:33546218|PMID:33576794|PMID:33847019|PMID:33946315|PMID:9536098 11924290 CNGB1 cyclic nucleotide gated channel subunit beta 1 gene DOID:10584 retinitis pigmentosa ISO RGD:732601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:11379879|PMID:15557452|PMID:16199547|PMID:17576681|PMID:21147909|PMID:21987686|PMID:22025579|PMID:23105016|PMID:23484092|PMID:23661369|PMID:24043777|PMID:24339724|PMID:24938718|PMID:25324289|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29202463|PMID:29912909|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31570810|PMID:32037395|PMID:32613137|PMID:33546218|PMID:33576794|PMID:33847019|PMID:33946315|PMID:9536098 11924290 CNGB1 cyclic nucleotide gated channel subunit beta 1 gene DOID:10584 retinitis pigmentosa ISO RGD:732601 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11379879|PMID:15557452|PMID:16199547|PMID:17032466|PMID:17576681|PMID:21147909|PMID:21987686|PMID:22025579|PMID:23105016|PMID:23484092|PMID:23661369|PMID:24043777|PMID:24339724|PMID:24938718|PMID:25324289|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29202463|PMID:29597005|PMID:29912909|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31570810|PMID:31931872|PMID:32037395|PMID:32613137|PMID:33546218|PMID:33576794|PMID:33847019|PMID:33946315|PMID:9536098 11924290 CNGB1 cyclic nucleotide gated channel subunit beta 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11924290 CNGB1 cyclic nucleotide gated channel subunit beta 1 gene DOID:630 genetic disease ISO RGD:732601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11924290 CNGB1 cyclic nucleotide gated channel subunit beta 1 gene DOID:8501 fundus dystrophy ISO RGD:732601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15557452|PMID:16199547|PMID:21147909|PMID:21987686|PMID:23105016|PMID:24043777|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29202463|PMID:29912909|PMID:30718709|PMID:31456290|PMID:33465333|PMID:33576794|PMID:33847019 11924332 EPB41L5 erythrocyte membrane protein band 4.1 like 5 gene DOID:630 genetic disease ISO RGD:1322786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11924374 ZMYND10 zinc finger MYND-type containing 10 gene DOID:0050144 Kartagener syndrome ISO RGD:1351816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:23891469|PMID:23891471|PMID:25741868|PMID:28492532 11924374 ZMYND10 zinc finger MYND-type containing 10 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532|PMID:30410802 11924374 ZMYND10 zinc finger MYND-type containing 10 gene DOID:0110597 primary ciliary dyskinesia 22 ISO RGD:1351816 D RGD:7240710 20180130 OMIM 11924374 ZMYND10 zinc finger MYND-type containing 10 gene DOID:0110597 primary ciliary dyskinesia 22 ISO RGD:1351816 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 22 PMID:23891469|PMID:23891471|PMID:25741868|PMID:28492532|PMID:31650533 11924374 ZMYND10 zinc finger MYND-type containing 10 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532|PMID:30410802 11924374 ZMYND10 zinc finger MYND-type containing 10 gene DOID:630 genetic disease ISO RGD:1351816 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11924374 ZMYND10 zinc finger MYND-type containing 10 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:23891469|PMID:23891471|PMID:25741868|PMID:26824761|PMID:28492532|PMID:31650533|PMID:31879361|PMID:9536098 11924390 EIF2S2 eukaryotic translation initiation factor 2 subunit beta gene DOID:2843 long QT syndrome ISO RGD:1343864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11924390 EIF2S2 eukaryotic translation initiation factor 2 subunit beta gene DOID:630 genetic disease ISO RGD:1343864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11924390 EIF2S2 eukaryotic translation initiation factor 2 subunit beta gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1550333 D RGD:9068941 20200609 RGD PMID:19168544|REF_RGD_ID:10755431 11924390 EIF2S2 eukaryotic translation initiation factor 2 subunit beta gene DOID:9008939 Breast Neoplasms ISO RGD:1343864 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 11924403 ARID3B AT-rich interaction domain 3B gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1314897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11924403 ARID3B AT-rich interaction domain 3B gene DOID:2717 Bloom syndrome ISO RGD:1314897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11924403 ARID3B AT-rich interaction domain 3B gene DOID:5419 schizophrenia ISO RGD:1314897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11924403 ARID3B AT-rich interaction domain 3B gene DOID:630 genetic disease ISO RGD:1314897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11924403 ARID3B AT-rich interaction domain 3B gene DOID:9256 colorectal cancer ISO RGD:1314897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11924421 CIB4 calcium and integrin binding family member 4 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1606728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11924421 CIB4 calcium and integrin binding family member 4 gene DOID:630 genetic disease ISO RGD:1606728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11924439 SERBP1 SERPINE1 mRNA binding protein 1 gene DOID:1059 intellectual disability ISO RGD:1606807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11924439 SERBP1 SERPINE1 mRNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1606807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11924439 SERBP1 SERPINE1 mRNA binding protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1606807 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11924439 SERBP1 SERPINE1 mRNA binding protein 1 gene DOID:9000918 Disease Progression ISO RGD:1606807 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11924456 NR2F1 nuclear receptor subfamily 2 group F member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11924456 NR2F1 nuclear receptor subfamily 2 group F member 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732429 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11924456 NR2F1 nuclear receptor subfamily 2 group F member 1 gene DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome ISO RGD:732429 D RGD:7240710 20180130 OMIM 11924456 NR2F1 nuclear receptor subfamily 2 group F member 1 gene DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome ISO RGD:732429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome PMID:18414213|PMID:24462372|PMID:25326637|PMID:25741868|PMID:25741869|PMID:25741879|PMID:26138355|PMID:26350515|PMID:26986877|PMID:28492532|PMID:28963436|PMID:29410510|PMID:30755392|PMID:31393201|PMID:31729143|PMID:32275123|PMID:32407885|PMID:32712214 11924456 NR2F1 nuclear receptor subfamily 2 group F member 1 gene DOID:1826 epilepsy ISO RGD:732429 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure 11924456 NR2F1 nuclear receptor subfamily 2 group F member 1 gene DOID:5119 ovarian cyst ISO RGD:732429 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 11924456 NR2F1 nuclear receptor subfamily 2 group F member 1 gene DOID:630 genetic disease ISO RGD:732429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26986877|PMID:28492532|PMID:32275123 11924456 NR2F1 nuclear receptor subfamily 2 group F member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11924456 NR2F1 nuclear receptor subfamily 2 group F member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732429 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11924456 NR2F1 nuclear receptor subfamily 2 group F member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:732429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11924456 NR2F1 nuclear receptor subfamily 2 group F member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732429 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11850205 11924463 FAM131B family with sequence similarity 131 member B gene DOID:0080600 COVID-19 ISO RGD:1605421 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11924463 FAM131B family with sequence similarity 131 member B gene DOID:630 genetic disease ISO RGD:1605421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11924463 FAM131B family with sequence similarity 131 member B gene DOID:9001336 Myotonia Congenita, Autosomal Dominant ISO RGD:1605421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form PMID:16321142|PMID:18337100|PMID:23113340|PMID:23739125|PMID:25741868|PMID:26467025|PMID:28492532 11924463 FAM131B family with sequence similarity 131 member B gene DOID:9008993 Myotonia ISO RGD:1605421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myotonia PMID:16321142|PMID:18337100|PMID:23113340|PMID:23739125|PMID:25741868|PMID:26467025|PMID:28492532 11924463 FAM131B family with sequence similarity 131 member B gene DOID:9009057 Myotonia Congenita, Autosomal Recessive ISO RGD:1605421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form PMID:16321142|PMID:18337100|PMID:23113340|PMID:23739125|PMID:25741868|PMID:26467025|PMID:28492532 11924490 SLC16A1 solute carrier family 16 member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737474 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11924490 SLC16A1 solute carrier family 16 member 1 gene DOID:0070214 familial hyperinsulinemic hypoglycemia 7 ISO RGD:737474 D RGD:7240710 20180130 OMIM 11924490 SLC16A1 solute carrier family 16 member 1 gene DOID:0070214 familial hyperinsulinemic hypoglycemia 7 ISO RGD:737474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exercise-induced hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 7 PMID:11207177|PMID:17701893|PMID:18414213|PMID:19881260|PMID:25371203|PMID:25741868|PMID:25741869|PMID:26595136|PMID:28492532 11924490 SLC16A1 solute carrier family 16 member 1 gene DOID:0080600 COVID-19 ISO RGD:737474 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11924490 SLC16A1 solute carrier family 16 member 1 gene DOID:0080690 RASopathy ISO RGD:737474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11924490 SLC16A1 solute carrier family 16 member 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:737474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 11924490 SLC16A1 solute carrier family 16 member 1 gene DOID:13938 amenorrhea ISO RGD:737474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11924490 SLC16A1 solute carrier family 16 member 1 gene DOID:2018 hyperinsulinism ISO RGD:737474 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hyperinsulinism, Dominant PMID:25741868|PMID:28492532 11924490 SLC16A1 solute carrier family 16 member 1 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:737474 D RGD:9068941 20220630 RGD protein:increased expression:lung (human) PMID:29885404|REF_RGD_ID:152995523 11924490 SLC16A1 solute carrier family 16 member 1 gene DOID:630 genetic disease ISO RGD:737474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11924490 SLC16A1 solute carrier family 16 member 1 gene DOID:9002353 Erythrocyte Lactate Transporter Defect ISO RGD:737474 D RGD:7240710 20180130 OMIM 11924490 SLC16A1 solute carrier family 16 member 1 gene DOID:9002353 Erythrocyte Lactate Transporter Defect ISO RGD:737474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Erythrocyte lactate transporter defect | ClinVar Annotator: match by term: LACTATE TRANSPORTER DEFECT, MYOPATHY DUE TO PMID:10590411|PMID:18414213|PMID:25390740|PMID:25741868|PMID:28492532|PMID:3775384 11924490 SLC16A1 solute carrier family 16 member 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:737474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11953883 11924490 SLC16A1 solute carrier family 16 member 1 gene DOID:9007395 Monocarboxylate Transporter 1 Deficiency ISO RGD:737474 D RGD:7240710 20180130 OMIM 11924490 SLC16A1 solute carrier family 16 member 1 gene DOID:9007395 Monocarboxylate Transporter 1 Deficiency ISO RGD:737474 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monocarboxylate transporter 1 deficiency | ClinVar Annotator: match by term: Monocarboxylate transporter 1 deficiency, autosomal dominant | ClinVar Annotator: match by term: Monocarboxylate transporter 1 deficiency, autosomal recessive PMID:18414213|PMID:25390740|PMID:25741868|PMID:28492532 11924490 SLC16A1 solute carrier family 16 member 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11953883 11924499 SLIT3 slit guidance ligand 3 gene DOID:0060224 atrial fibrillation ISO RGD:733245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11924499 SLIT3 slit guidance ligand 3 gene DOID:0111951 immunodeficiency 40 ISO RGD:733245 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:26083206|PMID:28492532 11924499 SLIT3 slit guidance ligand 3 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:69311 D RGD:9068941 20230406 RGD mRNA:increased expression:lung PMID:19944214|REF_RGD_ID:243048459 11924499 SLIT3 slit guidance ligand 3 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:735860 D RGD:9068941 20220825 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 11924499 SLIT3 slit guidance ligand 3 gene DOID:630 genetic disease ISO RGD:733245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11924499 SLIT3 slit guidance ligand 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:735860 D RGD:9068941 20200609 RGD PMID:16262652|REF_RGD_ID:2316136 11924499 SLIT3 slit guidance ligand 3 gene DOID:9000998 Brain Injuries ISO RGD:69311 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:16262652|REF_RGD_ID:2316136 11924499 SLIT3 slit guidance ligand 3 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:733245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17436238 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:0050440 familial partial lipodystrophy ISO RGD:732407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19793595 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:732407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:15166380|PMID:17327441|PMID:17576681|PMID:19164855|PMID:21479466|PMID:25157968|PMID:25741868|PMID:28166811|PMID:28341696|PMID:28492532|PMID:9536098 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy ISO RGD:732407 D RGD:7240710 20180130 OMIM 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy ISO RGD:732407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypoinsulinemic hypoglycemia and body hemihypertrophy PMID:21979934|PMID:25741868|PMID:28166811|PMID:28492532 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:10283 prostate cancer ISO RGD:732407 D RGD:9068941 20200609 RGD DNA:SNP: :rs7254617 (human) PMID:22815832|REF_RGD_ID:13504675 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:10286 prostate carcinoma treatment ISO RGD:732407 D RGD:9068941 20200609 RGD PMID:24838891|REF_RGD_ID:13504674 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:10763 hypertension ISO RGD:2082 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex (rat) PMID:12902546|REF_RGD_ID:2313350 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:10132 D RGD:9068941 20220825 MouseDO OMIM:184700 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:732407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:732407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:1380 endometrial cancer severity ISO RGD:732407 D RGD:9068941 20200609 RGD DNA:snp:intron:c.287+993G>A (rs892119) (human) PMID:22146979|REF_RGD_ID:13432140 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:2340 craniosynostosis ISO RGD:732407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:732407 D RGD:9068941 20200609 RGD PMID:20638364|REF_RGD_ID:13504677 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:299 adenocarcinoma ISO RGD:732407 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:33129824 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:3069 malignant astrocytoma severity ISO RGD:732407 D RGD:9068941 20200609 RGD PMID:20167810|REF_RGD_ID:13674163 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:3070 high grade glioma ISO RGD:2082 D RGD:9068941 20200609 RGD PMID:19330838|REF_RGD_ID:2313297 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:3070 high grade glioma ISO RGD:732407 D RGD:9068941 20200609 RGD protein:increased expression:cytoplasm (human) PMID:19330838|REF_RGD_ID:2313297 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:326 ischemia ISO RGD:2082 D RGD:9068941 20200609 RGD PMID:19084003|REF_RGD_ID:2313316 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:21479466|PMID:25157968|PMID:28492532 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:4001 ovarian carcinoma ISO RGD:732407 D RGD:9068941 20200609 RGD DNA:amplification (human) PMID:16721043|REF_RGD_ID:2315603 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:630 genetic disease ISO RGD:732407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17327441|PMID:17576681|PMID:28341696|PMID:28492532|PMID:9536098 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:10132 D RGD:9068941 20210702 RGD protein:increased phosphorylation:liver (mouse) PMID:28100771|REF_RGD_ID:127285675 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:2082 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver cancer cell (rat) PMID:19309364|REF_RGD_ID:2313299 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732407 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:19491266|REF_RGD_ID:2315599 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732407 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:33129824 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:732407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:10132 D RGD:9068941 20200609 RGD PMID:21743498|REF_RGD_ID:13504676 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:10132 D RGD:9068941 20200609 RGD PMID:17210696|REF_RGD_ID:2315600 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:9007692 Insulin Resistance no_association ISO RGD:732407 D RGD:9068941 20200609 RGD DNA:SNPs PMID:17327441|REF_RGD_ID:1601155 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2082 D RGD:9068941 20200609 RGD PMID:16418318|REF_RGD_ID:2313347 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:16094359|PMID:25157968 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19075277 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:9256 colorectal cancer onset ISO RGD:2082 D RGD:9068941 20200609 RGD protein:increased expression:colon (rat) PMID:11756242|REF_RGD_ID:2313394 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:9256 colorectal cancer onset ISO RGD:732407 D RGD:9068941 20200609 RGD protein:increased expression:colon (human) PMID:11756242|REF_RGD_ID:2313394 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:9269 maple syrup urine disease ISO RGD:732407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732407 D RGD:7240710 20180130 OMIM 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:15166380|PMID:17327441|PMID:17576681|PMID:19164855|PMID:25741868|PMID:28166811|PMID:28341696|PMID:28492532|PMID:9536098 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:15166380|PMID:17327441|PMID:17576681|PMID:19164855|PMID:21479466|PMID:25157968|PMID:25741868|PMID:28166811|PMID:28341696|PMID:28492532|PMID:9536098 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:9970 obesity ISO RGD:10132 D RGD:9068941 20200609 RGD PMID:17923673|REF_RGD_ID:2313406 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:9970 obesity ISO RGD:2082 D RGD:9068941 20200609 RGD protein:decreased expression:plantaris (rat) PMID:18508911|REF_RGD_ID:2313320 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:9970 obesity ISO RGD:732407 D RGD:9068941 20200609 RGD protein:decreased activity:rectus abdominis (human) PMID:12663464|REF_RGD_ID:2313409 11924539 AKT2 AKT serine/threonine kinase 2 gene DOID:9993 hypoglycemia ISO RGD:732407 D RGD:9068941 20200609 RGD PMID:21979934|REF_RGD_ID:7248543 11924588 ZNF202 zinc finger protein 202 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1353784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11924588 ZNF202 zinc finger protein 202 gene DOID:5419 schizophrenia ISO RGD:1353784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11924588 ZNF202 zinc finger protein 202 gene DOID:630 genetic disease ISO RGD:1353784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11924588 ZNF202 zinc finger protein 202 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1353784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11924588 ZNF202 zinc finger protein 202 gene DOID:9007661 Dwarfism ISO RGD:1353784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11924640 CNDP1 carnosine dipeptidase 1 gene DOID:0060177 homocarnosinosis ISO RGD:1344598 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:4172777 11924640 CNDP1 carnosine dipeptidase 1 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1344598 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11924640 CNDP1 carnosine dipeptidase 1 gene DOID:1059 intellectual disability ISO RGD:1344598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 11924640 CNDP1 carnosine dipeptidase 1 gene DOID:2921 glomerulonephritis ISO RGD:1344598 D RGD:9068941 20200702 RGD PMID:20851293|REF_RGD_ID:7207223 11924640 CNDP1 carnosine dipeptidase 1 gene DOID:630 genetic disease ISO RGD:1344598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11924640 CNDP1 carnosine dipeptidase 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:1344598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 11924640 CNDP1 carnosine dipeptidase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1344598 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11924640 CNDP1 carnosine dipeptidase 1 gene DOID:8445 intestinal volvulus ISO RGD:1344598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11924640 CNDP1 carnosine dipeptidase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344598 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11924640 CNDP1 carnosine dipeptidase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1344598 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:17942768|PMID:21393041|PMID:21573905 11924640 CNDP1 carnosine dipeptidase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1344598 D RGD:9068941 20200702 RGD PMID:21393041|REF_RGD_ID:7207213 11924640 CNDP1 carnosine dipeptidase 1 gene DOID:9003814 Neurologic Manifestations ISO RGD:1344598 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:4673339 11924640 CNDP1 carnosine dipeptidase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11924640 CNDP1 carnosine dipeptidase 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1344598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11924640 CNDP1 carnosine dipeptidase 1 gene DOID:9650 pathologic nystagmus ISO RGD:1344598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:25741868 11924692 CFI complement factor I gene DOID:0050419 complement factor I deficiency ISO RGD:736809 D RGD:7240710 20230517 OMIM 11924692 CFI complement factor I gene DOID:0050419 complement factor I deficiency ISO RGD:736809 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: C3 GLOMERULOPATHY 2 | ClinVar Annotator: match by term: Complement factor I deficiency PMID:15917334|PMID:16199547|PMID:16621965|PMID:17084897|PMID:17576681|PMID:17597211|PMID:18374984|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:22710145|PMID:23421077|PMID:23431077|PMID:23685748|PMID:24033266|PMID:24036952|PMID:25352734|PMID:25741868|PMID:25788521|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27268256|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:31049720|PMID:31231365|PMID:31440263|PMID:32510551|PMID:34153144|PMID:34169201|PMID:849647|PMID:8613545|PMID:9536098 11924692 CFI complement factor I gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:736809 D RGD:7240710 20230517 OMIM 11924692 CFI complement factor I gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:736809 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:15173250|PMID:16199547|PMID:16621965|PMID:17084897|PMID:17576681|PMID:18374984|PMID:18557729|PMID:18825487|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:20595690|PMID:22710145|PMID:23307876|PMID:23314101|PMID:23421077|PMID:23431077|PMID:23685748|PMID:23787556|PMID:24033266|PMID:24034049|PMID:24036952|PMID:24161037|PMID:25037630|PMID:25135378|PMID:25352734|PMID:25741868|PMID:25741909|PMID:25758434|PMID:25788521|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27268256|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29292855|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:31049720|PMID:31249236|PMID:31517156|PMID:32510551|PMID:849647|PMID:8613545|PMID:9536098 11924692 CFI complement factor I gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:736809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:15173250|PMID:15917334|PMID:16199547|PMID:16621965|PMID:17084897|PMID:17576681|PMID:17597211|PMID:18374984|PMID:18557729|PMID:18825487|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:20595690|PMID:22710145|PMID:23307876|PMID:23314101|PMID:23421077|PMID:23431077|PMID:23685748|PMID:23787556|PMID:24033266|PMID:24034049|PMID:24036952|PMID:24161037|PMID:25037630|PMID:25135378|PMID:25352734|PMID:25741868|PMID:25741909|PMID:25758434|PMID:25788521|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27268256|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29292855|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:30982675|PMID:31049720|PMID:31231365|PMID:31249236|PMID:31440263|PMID:31517156|PMID:31900968|PMID:32098865|PMID:32510551|PMID:34153144|PMID:34169201|PMID:849647|PMID:8613545|PMID:9536098 11924692 CFI complement factor I gene DOID:0110025 age related macular degeneration 13 ISO RGD:736809 D RGD:7240710 20230517 OMIM 11924692 CFI complement factor I gene DOID:0110025 age related macular degeneration 13 ISO RGD:736809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 13 | ClinVar Annotator: match by term: Macular degeneration, age-related, 13, susceptibility to PMID:15917334|PMID:16199547|PMID:16621965|PMID:17084897|PMID:17576681|PMID:17597211|PMID:18374984|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:22710145|PMID:23421077|PMID:23431077|PMID:23685748|PMID:24033266|PMID:24036952|PMID:25352734|PMID:25741868|PMID:25788521|PMID:25986072|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27268256|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:31049720|PMID:31231365|PMID:31440263|PMID:32510551|PMID:34153144|PMID:34169201|PMID:849647|PMID:8613545|PMID:9536098 11924692 CFI complement factor I gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:736809 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:18825487|PMID:25741868|PMID:28492532 11924692 CFI complement factor I gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:736809 D RGD:9068941 20200609 RGD DNA:SNPs: :rs10033900, rs13117504 (human) PMID:23900096|REF_RGD_ID:8662315 11924692 CFI complement factor I gene DOID:1184 nephrotic syndrome disease_progression ISO RGD:736809 D RGD:9068941 20210319 RGD PMID:9745775|REF_RGD_ID:108019049 11924692 CFI complement factor I gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:736809 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:18825487|PMID:25741868|PMID:28492532 11924692 CFI complement factor I gene DOID:2236 congenital afibrinogenemia ISO RGD:736809 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Factor I deficiency PMID:15917334|PMID:16199547|PMID:16621965|PMID:17018561|PMID:17084897|PMID:17576681|PMID:18374984|PMID:19065647|PMID:19861685|PMID:20016463|PMID:20106822|PMID:20301541|PMID:22710145|PMID:23421077|PMID:23431077|PMID:24033266|PMID:24036952|PMID:25741868|PMID:25988862|PMID:26826462|PMID:27091480|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29566171|PMID:29888403|PMID:29940891|PMID:31049720|PMID:31231365|PMID:849647|PMID:8613545|PMID:9536098 11924692 CFI complement factor I gene DOID:2236 congenital afibrinogenemia ISO RGD:736809 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Factor I deficiency PMID:15917334|PMID:16199547|PMID:16621965|PMID:17018561|PMID:17084897|PMID:17576681|PMID:17597211|PMID:17914026|PMID:18374984|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:22710145|PMID:23421077|PMID:23431077|PMID:23685748|PMID:24033266|PMID:24036952|PMID:25352734|PMID:25741868|PMID:25788521|PMID:25988862|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27091480|PMID:27268256|PMID:28187980|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:30046676|PMID:31049720|PMID:31231365|PMID:31440263|PMID:32510551|PMID:34153144|PMID:34169201|PMID:849647|PMID:8613545|PMID:9536098 11924692 CFI complement factor I gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:732319 D RGD:9068941 20200609 RGD PMID:18202746|REF_RGD_ID:6906892 11924692 CFI complement factor I gene DOID:4448 macular degeneration ISO RGD:736809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685748|PMID:24036952|PMID:26691988 11924692 CFI complement factor I gene DOID:4448 macular degeneration ISO RGD:736809 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G119R (human) PMID:23685748|REF_RGD_ID:8662313 11924692 CFI complement factor I gene DOID:4448 macular degeneration disease_progression ISO RGD:736809 D RGD:9068941 20200609 RGD DNA:SNP:intron:g.110659067T>C (rs10033900) (human) PMID:22815349|REF_RGD_ID:8662321 11924692 CFI complement factor I gene DOID:4448 macular degeneration no_association ISO RGD:736809 D RGD:9068941 20200609 RGD DNA:SNP:cds:c.345G>A (rs2285714) (human) PMID:23900096|REF_RGD_ID:8662315 11924692 CFI complement factor I gene DOID:557 kidney disease ISO RGD:736809 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 11924692 CFI complement factor I gene DOID:630 genetic disease ISO RGD:736809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11924692 CFI complement factor I gene DOID:784 chronic kidney disease ISO RGD:736809 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:17084897|PMID:20301541|PMID:25741868|PMID:28492532 11924692 CFI complement factor I gene DOID:8893 psoriasis severity ISO RGD:736809 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:2973157|REF_RGD_ID:8662318 11924692 CFI complement factor I gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:736809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombotic microangiopathy PMID:25741868|PMID:28492532 11924692 CFI complement factor I gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:620429 D RGD:9068941 20200609 RGD mRNA:increased expression:spiral organ of cochlea, sensory epithelium PMID:23727008|REF_RGD_ID:8662317 11924718 SSR4 signal sequence receptor subunit 4 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:736749 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11924718 SSR4 signal sequence receptor subunit 4 gene DOID:0050476 Barth syndrome ISO RGD:736749 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11924718 SSR4 signal sequence receptor subunit 4 gene DOID:0050800 creatine transporter deficiency ISO RGD:736749 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 11924718 SSR4 signal sequence receptor subunit 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11924718 SSR4 signal sequence receptor subunit 4 gene DOID:0080574 congenital disorder of glycosylation Iy ISO RGD:736749 D RGD:7240710 20180130 OMIM 11924718 SSR4 signal sequence receptor subunit 4 gene DOID:0080574 congenital disorder of glycosylation Iy ISO RGD:736749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CDG IY | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y PMID:24218363|PMID:25326635|PMID:25741868|PMID:26264460|PMID:28492532 11924718 SSR4 signal sequence receptor subunit 4 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:736749 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 11924718 SSR4 signal sequence receptor subunit 4 gene DOID:0112003 immunodeficiency 33 ISO RGD:736749 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11924718 SSR4 signal sequence receptor subunit 4 gene DOID:10588 adrenoleukodystrophy ISO RGD:736749 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11924718 SSR4 signal sequence receptor subunit 4 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:736749 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11924718 SSR4 signal sequence receptor subunit 4 gene DOID:12849 autistic disorder ISO RGD:736749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11924718 SSR4 signal sequence receptor subunit 4 gene DOID:13628 favism ISO RGD:736749 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11924718 SSR4 signal sequence receptor subunit 4 gene DOID:2729 dyskeratosis congenita ISO RGD:736749 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11924718 SSR4 signal sequence receptor subunit 4 gene DOID:607 paraplegia ISO RGD:736749 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11924718 SSR4 signal sequence receptor subunit 4 gene DOID:630 genetic disease ISO RGD:736749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11924718 SSR4 signal sequence receptor subunit 4 gene DOID:9002720 Splenomegaly ISO RGD:736749 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11924735 FXR1 FMR1 autosomal homolog 1 gene DOID:0060249 scoliosis ISO RGD:1323342 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868 11924735 FXR1 FMR1 autosomal homolog 1 gene DOID:0080100 congenital myopathy ISO RGD:1323342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myopathy PMID:25741868 11924735 FXR1 FMR1 autosomal homolog 1 gene DOID:0080991 multiminicore disease ISO RGD:1323342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiminicore myopathy PMID:25741868|PMID:30770808 11924735 FXR1 FMR1 autosomal homolog 1 gene DOID:0110000 3-methylglutaconic aciduria type 5 ISO RGD:1323342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 PMID:16055927|PMID:27928778|PMID:28492532 11924735 FXR1 FMR1 autosomal homolog 1 gene DOID:0111546 Currarino syndrome ISO RGD:1323342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11924735 FXR1 FMR1 autosomal homolog 1 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1323342 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 11924735 FXR1 FMR1 autosomal homolog 1 gene DOID:1059 intellectual disability ISO RGD:1323342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 11924735 FXR1 FMR1 autosomal homolog 1 gene DOID:630 genetic disease ISO RGD:1323342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11924735 FXR1 FMR1 autosomal homolog 1 gene DOID:9002436 Congenital Myopathy 9B, Proximal, with Minicore Lesions ISO RGD:1323342 D RGD:7240710 20200520 OMIM 11924735 FXR1 FMR1 autosomal homolog 1 gene DOID:9002436 Congenital Myopathy 9B, Proximal, with Minicore Lesions ISO RGD:1323342 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, congenital proximal, with minicore lesions PMID:25741868|PMID:30770808|PMID:35393337 11924735 FXR1 FMR1 autosomal homolog 1 gene DOID:9006903 Congenital Myopathy 9A ISO RGD:1323342 D RGD:7240710 20200805 OMIM 11924735 FXR1 FMR1 autosomal homolog 1 gene DOID:9006903 Congenital Myopathy 9A ISO RGD:1323342 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, with respiratory insufficiency and bone fractures PMID:25741868|PMID:28492532|PMID:30770808 11924772 ATP13A3 ATPase 13A3 gene DOID:630 genetic disease ISO RGD:1353842 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11924772 ATP13A3 ATPase 13A3 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1353842 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25741868|PMID:28492532|PMID:30679663|PMID:31727138|PMID:34493544|PMID:35204766 11924772 ATP13A3 ATPase 13A3 gene DOID:9007822 Primary Pulmonary Hypertension, 5 ISO RGD:1353842 D RGD:7240710 20220608 OMIM 11924772 ATP13A3 ATPase 13A3 gene DOID:9007822 Primary Pulmonary Hypertension, 5 ISO RGD:1353842 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PULMONARY HYPERTENSION, PRIMARY, 5, AUTOSOMAL RECESSIVE PMID:25741868|PMID:28492532|PMID:30679663|PMID:31727138|PMID:34493544|PMID:35204766 11924811 METTL27 methyltransferase like 27 gene DOID:0060041 autism spectrum disorder ISO RGD:1352777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 11924811 METTL27 methyltransferase like 27 gene DOID:10923 sickle cell anemia ISO RGD:1352777 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 11924811 METTL27 methyltransferase like 27 gene DOID:12849 autistic disorder ISO RGD:1352777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11924811 METTL27 methyltransferase like 27 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1352777 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 11924811 METTL27 methyltransferase like 27 gene DOID:1929 supravalvular aortic stenosis ISO RGD:1352777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis PMID:10627943|PMID:11175284|PMID:25205790|PMID:28277377|PMID:28492532|PMID:7557968|PMID:7611295|PMID:7726172|PMID:8968740 11924811 METTL27 methyltransferase like 27 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11924811 METTL27 methyltransferase like 27 gene DOID:5419 schizophrenia ISO RGD:1352777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11924811 METTL27 methyltransferase like 27 gene DOID:630 genetic disease ISO RGD:1352777 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11924811 METTL27 methyltransferase like 27 gene DOID:8445 intestinal volvulus ISO RGD:1352777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11924811 METTL27 methyltransferase like 27 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11924811 METTL27 methyltransferase like 27 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1352777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11924819 BLNK B cell linker gene DOID:0060027 agammaglobulinemia 4 ISO RGD:1347273 D RGD:7240710 20180130 OMIM 11924819 BLNK B cell linker gene DOID:0060027 agammaglobulinemia 4 ISO RGD:1347273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive PMID:10583958|PMID:16199547|PMID:17576681|PMID:24033266|PMID:24582315|PMID:25741868|PMID:28492532|PMID:30619340|PMID:9536098 11924819 BLNK B cell linker gene DOID:2583 agammaglobulinemia ISO RGD:1347273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11924819 BLNK B cell linker gene DOID:2583 agammaglobulinemia susceptibility ISO RGD:1347273 D RGD:9068941 20200609 RGD DNA:splice-site mutation PMID:10583958|REF_RGD_ID:1600518 11924819 BLNK B cell linker gene DOID:630 genetic disease ISO RGD:1347273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11924843 IARS1 isoleucyl-tRNA synthetase 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1317850 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 11924843 IARS1 isoleucyl-tRNA synthetase 1 gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1317850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 11924843 IARS1 isoleucyl-tRNA synthetase 1 gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1317850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 11924843 IARS1 isoleucyl-tRNA synthetase 1 gene DOID:1059 intellectual disability ISO RGD:1317850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11924843 IARS1 isoleucyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1317850 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11584022|PMID:15733854|PMID:28492532 11924843 IARS1 isoleucyl-tRNA synthetase 1 gene DOID:9002230 GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY ISO RGD:1317850 D RGD:7240710 20190315 OMIM 11924843 IARS1 isoleucyl-tRNA synthetase 1 gene DOID:9002230 GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY ISO RGD:1317850 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy PMID:24706940|PMID:25741868|PMID:27426735|PMID:27891590|PMID:28492532 11924843 IARS1 isoleucyl-tRNA synthetase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1317850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11924884 ASPH aspartate beta-hydroxylase gene DOID:0050834 CHARGE syndrome ISO RGD:1323751 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:18413373|PMID:19772954|PMID:22258531|PMID:22902603|PMID:28492532 11924884 ASPH aspartate beta-hydroxylase gene DOID:4947 cholangiocarcinoma ISO RGD:1323751 D RGD:9068941 20200609 RGD PMID:21898484|REF_RGD_ID:6902945 11924884 ASPH aspartate beta-hydroxylase gene DOID:630 genetic disease ISO RGD:1323751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11924884 ASPH aspartate beta-hydroxylase gene DOID:8545 malignant hyperthermia ISO RGD:1323751 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia 11924884 ASPH aspartate beta-hydroxylase gene DOID:9000195 Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism ISO RGD:1323751 D RGD:7240710 20180130 OMIM 11924884 ASPH aspartate beta-hydroxylase gene DOID:9000195 Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism ISO RGD:1323751 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs | ClinVar Annotator: match by term: SHAWAF-TRABOULSI SYNDROME PMID:11241487|PMID:23687502|PMID:24768550|PMID:25741868|PMID:28492532|PMID:30194805|PMID:31274573|PMID:33217155 11924884 ASPH aspartate beta-hydroxylase gene DOID:9002936 Bile Duct Neoplasms ISO RGD:1323751 D RGD:9068941 20200609 RGD mRNA:increased expression:bile duct PMID:16673309|REF_RGD_ID:2325824 11924934 ROBO2 roundabout guidance receptor 2 gene DOID:0080205 CAKUT ISO RGD:736256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:17357069|PMID:18235093|PMID:22995991|PMID:23536131|PMID:24429398|PMID:25741868|PMID:27657687|PMID:28492532|PMID:30143558|PMID:30586318 11924934 ROBO2 roundabout guidance receptor 2 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:62234 D RGD:9068941 20230330 RGD PMID:25691540|REF_RGD_ID:243048427 11924934 ROBO2 roundabout guidance receptor 2 gene DOID:12849 autistic disorder ISO RGD:736256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18270976 11924934 ROBO2 roundabout guidance receptor 2 gene DOID:1657 ventricular septal defect ISO RGD:62234 D RGD:9068941 20230330 RGD PMID:25691540|REF_RGD_ID:243048427 11924934 ROBO2 roundabout guidance receptor 2 gene DOID:224 transient cerebral ischemia ISO RGD:620167 D RGD:9068941 20230330 RGD protein:increased expression:brain, astrocyte PMID:27686659|REF_RGD_ID:243048429 11924934 ROBO2 roundabout guidance receptor 2 gene DOID:4947 cholangiocarcinoma ISO RGD:736256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 11924934 ROBO2 roundabout guidance receptor 2 gene DOID:630 genetic disease ISO RGD:736256 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:34059960 11924934 ROBO2 roundabout guidance receptor 2 gene DOID:9000998 Brain Injuries ISO RGD:620167 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:16262652|REF_RGD_ID:2316136 11924934 ROBO2 roundabout guidance receptor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11924934 ROBO2 roundabout guidance receptor 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 11924934 ROBO2 roundabout guidance receptor 2 gene DOID:9003155 Parasitic Liver Diseases ISO RGD:736256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 11924934 ROBO2 roundabout guidance receptor 2 gene DOID:9003734 Vesicoureteral Reflux 2 ISO RGD:736256 D RGD:7240710 20180130 OMIM 11924934 ROBO2 roundabout guidance receptor 2 gene DOID:9003734 Vesicoureteral Reflux 2 ISO RGD:736256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Vesicoureteral reflux 2 PMID:16199547|PMID:17357069|PMID:18235093|PMID:22558067|PMID:22995991|PMID:23536131|PMID:25741868|PMID:26489027|PMID:27657687|PMID:28492532 11924934 ROBO2 roundabout guidance receptor 2 gene DOID:9620 vesicoureteral reflux ISO RGD:736256 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Vesicoureteral reflux PMID:28492532 11924979 IPO13 importin 13 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:23252400|PMID:28492532 11924979 IPO13 importin 13 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:731320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11924979 IPO13 importin 13 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:23252400|PMID:28492532 11924979 IPO13 importin 13 gene DOID:630 genetic disease ISO RGD:731320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925004 ASB10 ankyrin repeat and SOCS box containing 10 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1353086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 11925004 ASB10 ankyrin repeat and SOCS box containing 10 gene DOID:2843 long QT syndrome ISO RGD:1353086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 11925004 ASB10 ankyrin repeat and SOCS box containing 10 gene DOID:630 genetic disease ISO RGD:1353086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10037570|PMID:28492532 11925004 ASB10 ankyrin repeat and SOCS box containing 10 gene DOID:9001412 Glaucoma 1, Open Angle, F ISO RGD:1353086 D RGD:7240710 20180130 OMIM 11925004 ASB10 ankyrin repeat and SOCS box containing 10 gene DOID:9001412 Glaucoma 1, Open Angle, F ISO RGD:1353086 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glaucoma 1, open angle, F PMID:10037570|PMID:22156576|PMID:25741868|PMID:28492532 11925018 PJVK pejvakin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1352291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587|PMID:32747562 11925018 PJVK pejvakin gene DOID:0090048 dystonia 16 ISO RGD:1352291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia 16 PMID:24033266|PMID:28492532 11925018 PJVK pejvakin gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1352291 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:18948003|PMID:23975875|PMID:24395473|PMID:25589632|PMID:28492532|PMID:30557390 11925018 PJVK pejvakin gene DOID:0110511 autosomal recessive nonsyndromic deafness 59 ISO RGD:1352291 D RGD:7240710 20180130 OMIM 11925018 PJVK pejvakin gene DOID:0110511 autosomal recessive nonsyndromic deafness 59 ISO RGD:1352291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 59 PMID:16804542|PMID:17301963|PMID:17329413|PMID:17373699|PMID:17718865|PMID:21935370|PMID:23804846|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27344577|PMID:28492532|PMID:30303587|PMID:30311386|PMID:32747562|PMID:35052489 11925018 PJVK pejvakin gene DOID:543 dystonia ISO RGD:1352291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:24033266|PMID:28492532 11925018 PJVK pejvakin gene DOID:9004538 Hearing Loss ISO RGD:1352291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:28492532|PMID:30311386 11925018 PJVK pejvakin gene DOID:9008681 Deafness ISO RGD:1352291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587|PMID:32747562 11925031 RS1 retinoschisin 1 gene DOID:0050562 West syndrome ISO RGD:1347162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: West syndrome PMID:16813600|PMID:18414213|PMID:21775177|PMID:22867051|PMID:25741868|PMID:28492532 11925031 RS1 retinoschisin 1 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1347162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11925031 RS1 retinoschisin 1 gene DOID:0060763 X-linked juvenile retinoschisis 1 ISO RGD:1347162 D RGD:7240710 20180307 OMIM 11925031 RS1 retinoschisin 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11925031 RS1 retinoschisin 1 gene DOID:0060825 Christianson syndrome ISO RGD:1347162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome-like PMID:15499549|PMID:16813600|PMID:18414213|PMID:19241098|PMID:20479760|PMID:21160487|PMID:21775177|PMID:22867051|PMID:25741868|PMID:26467025|PMID:28492532 11925031 RS1 retinoschisin 1 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1347162 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 PMID:10533068|PMID:15499549|PMID:16813600|PMID:17304053|PMID:17546640|PMID:17576681|PMID:18076117|PMID:18414213|PMID:18564362|PMID:19241098|PMID:19428276|PMID:19780792|PMID:20479760|PMID:20493745|PMID:21160487|PMID:21770923|PMID:21775177|PMID:21802232|PMID:22867051|PMID:22872100|PMID:23064044|PMID:23184456|PMID:23756444|PMID:23828526|PMID:25315662|PMID:25640679|PMID:25741868|PMID:26112015|PMID:26467025|PMID:27824329|PMID:28492532|PMID:29264392|PMID:29655203|PMID:30624022|PMID:30945684|PMID:9536098 11925031 RS1 retinoschisin 1 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1347162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11925031 RS1 retinoschisin 1 gene DOID:12849 autistic disorder ISO RGD:1347162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11925031 RS1 retinoschisin 1 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1347162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11925031 RS1 retinoschisin 1 gene DOID:630 genetic disease ISO RGD:1347162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10234514|PMID:10533068|PMID:10922205|PMID:12746437|PMID:19324861|PMID:19390641|PMID:20061330|PMID:20809529|PMID:21775177|PMID:23288992|PMID:23756444|PMID:25741868|PMID:26112015|PMID:27788217|PMID:27824329|PMID:28272453|PMID:28492532|PMID:29851975|PMID:30652005|PMID:31087526|PMID:33460243|PMID:33781268|PMID:34624300|PMID:35456481|PMID:618178|PMID:9618178 11925031 RS1 retinoschisin 1 gene DOID:8465 retinoschisis ISO RGD:1347162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Juvenile retinoschisis | ClinVar Annotator: match by term: Retinoschisis PMID:10220153|PMID:10234514|PMID:10450864|PMID:10533068|PMID:10589241|PMID:10636421|PMID:10636429|PMID:10636740|PMID:10679210|PMID:10922205|PMID:10947001|PMID:11295123|PMID:12417531|PMID:12746437|PMID:12782284|PMID:12920343|PMID:12928282|PMID:15281981|PMID:15531314|PMID:15932525|PMID:15937075|PMID:16167295|PMID:16272055|PMID:16361673|PMID:16900931|PMID:17172462|PMID:17296904|PMID:17304551|PMID:17515881|PMID:17525175|PMID:17576681|PMID:17615541|PMID:17631851|PMID:17987333|PMID:18369700|PMID:18541843|PMID:18690710|PMID:18834580|PMID:19093009|PMID:19324861|PMID:19390641|PMID:19849666|PMID:20061330|PMID:20801516|PMID:20806044|PMID:20809529|PMID:21701876|PMID:22039241|PMID:22110067|PMID:22245991|PMID:22332228|PMID:23288992|PMID:23453514|PMID:23514609|PMID:23568735|PMID:23847049|PMID:24505212|PMID:24634885|PMID:25525159|PMID:25741868|PMID:25799783|PMID:25999676|PMID:26356828|PMID:26872967|PMID:27032803|PMID:27246168|PMID:27788217|PMID:28221463|PMID:28272453|PMID:28348004|PMID:28450823|PMID:28492532|PMID:28559085|PMID:29081674|PMID:29851975|PMID:29902095|PMID:30450322|PMID:30551202|PMID:30652005|PMID:30923717|PMID:31087526|PMID:31456290|PMID:31725702|PMID:33460243|PMID:33546218|PMID:33781268|PMID:34624300|PMID:35456481|PMID:618178|PMID:6361673|PMID:9326935|PMID:9536098|PMID:9618178|PMID:9760195 11925031 RS1 retinoschisin 1 gene DOID:8465 retinoschisis treatment ISO RGD:1347162 D RGD:9068941 20200609 RGD PMID:16027044|REF_RGD_ID:9587800 11925031 RS1 retinoschisin 1 gene DOID:8465 retinoschisis treatment ISO RGD:1557176 D RGD:9068941 20200609 RGD PMID:15326152|REF_RGD_ID:9587803 11925031 RS1 retinoschisin 1 gene DOID:8501 fundus dystrophy ISO RGD:1347162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10220153|PMID:10234514|PMID:10533068|PMID:10589241|PMID:10636421|PMID:10636740|PMID:10922205|PMID:10947001|PMID:12417531|PMID:12746437|PMID:12920343|PMID:12928282|PMID:15932525|PMID:15937075|PMID:16167295|PMID:16361673|PMID:16900931|PMID:17172462|PMID:17296904|PMID:17304551|PMID:17515881|PMID:17576681|PMID:17615541|PMID:17987333|PMID:18369700|PMID:18541843|PMID:18834580|PMID:19093009|PMID:19324861|PMID:19390641|PMID:20061330|PMID:20809529|PMID:21701876|PMID:22110067|PMID:22245991|PMID:22332228|PMID:23288992|PMID:23453514|PMID:23514609|PMID:23568735|PMID:23847049|PMID:24634885|PMID:25525159|PMID:25741868|PMID:25799783|PMID:26356828|PMID:26872967|PMID:27032803|PMID:27246168|PMID:27788217|PMID:28221463|PMID:28272453|PMID:28348004|PMID:28492532|PMID:28559085|PMID:29851975|PMID:29902095|PMID:30551202|PMID:30652005|PMID:30923717|PMID:31087526|PMID:31725702|PMID:33460243|PMID:33546218|PMID:33781268|PMID:34624300|PMID:35456481|PMID:618178|PMID:9326935|PMID:9536098|PMID:9618178|PMID:9760195 11925031 RS1 retinoschisin 1 gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:1347162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:17172462|PMID:20591708|PMID:21914562|PMID:22473288|PMID:28492532|PMID:9618178 11925031 RS1 retinoschisin 1 gene DOID:9001325 Rett Syndrome, Atypical ISO RGD:1347162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:19428276|PMID:28492532 11925031 RS1 retinoschisin 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:1347162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:28492532 11925031 RS1 retinoschisin 1 gene DOID:9003531 Nicolaides Baraitser Syndrome ISO RGD:1347162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome PMID:25741868 11925031 RS1 retinoschisin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11925041 ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif 6 gene DOID:5426 primary ovarian insufficiency ISO RGD:1317007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11925041 ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif 6 gene DOID:630 genetic disease ISO RGD:1317007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925041 ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11925070 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:0050120 hemophagocytic lymphohistiocytosis ISO RGD:1313140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374066 11925070 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1313140 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 11925070 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:1485 cystic fibrosis ISO RGD:1313140 D RGD:9068941 20200609 RGD PMID:21263071|REF_RGD_ID:5135530 11925070 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:224 transient cerebral ischemia treatment ISO RGD:1305233 D RGD:9068941 20200609 RGD PMID:24771108|REF_RGD_ID:9686115 11925070 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:2841 asthma ISO RGD:1313141 D RGD:9068941 20200609 RGD PMID:17517968|REF_RGD_ID:5135525 11925070 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:2957 pulmonary tuberculosis ISO RGD:1313140 D RGD:9068941 20200609 RGD PMID:21382414|REF_RGD_ID:5135524 11925070 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:1313140 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-574G>T, +4259T>G (human) PMID:22472081|REF_RGD_ID:7245505 11925070 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:630 genetic disease ISO RGD:1313140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925070 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1313140 D RGD:9068941 20201117 RGD associated with hepatitis B;DNA:SNP: : ���1516 G>T (human) PMID:27034168|REF_RGD_ID:40818257 11925070 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1313140 D RGD:9068941 20200609 RGD DNA:polymorphisms: : +4259T>G (human) PMID:22472081|REF_RGD_ID:7245505 11925070 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:9002457 Experimental Arthritis ISO RGD:1305233 D RGD:9068941 20200609 RGD mRNA,protein:altered expression:bone: PMID:25264706|REF_RGD_ID:9686117 11925070 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1305233 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord: PMID:15913792|REF_RGD_ID:9686113 11925070 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1313141 D RGD:9068941 20200609 RGD PMID:11823861|REF_RGD_ID:9686086 11925070 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:9004283 Transplant Rejection ISO RGD:1305233 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung: PMID:24508263|REF_RGD_ID:9686116 11925070 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:9004283 Transplant Rejection ISO RGD:1313140 D RGD:9068941 20200609 RGD mRNA:increased expression:Leukocytes, Mononuclear: PMID:22172823|REF_RGD_ID:7245954 11925070 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:9006647 Experimental Autoimmune Neuritis disease_progression ISO RGD:1305233 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:sciatic nerve: PMID:21784136|REF_RGD_ID:9686114 11925070 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:9007356 Eczema ISO RGD:1313140 D RGD:9068941 20200609 RGD PMID:16159638|REF_RGD_ID:5128852 11925070 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:9008980 Subcutaneous Panniculitis-like T-Cell Lymphoma ISO RGD:1313140 D RGD:7240710 20190515 OMIM 11925070 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:9008980 Subcutaneous Panniculitis-like T-Cell Lymphoma ISO RGD:1313140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Subcutaneous panniculitis-like T-cell lymphoma PMID:25741868|PMID:30374066|PMID:30792187 11925082 NCAPG non-SMC condensin I complex subunit G gene DOID:0080600 COVID-19 ISO RGD:1605960 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11925082 NCAPG non-SMC condensin I complex subunit G gene DOID:3910 lung adenocarcinoma ISO RGD:1605960 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:34419073 11925082 NCAPG non-SMC condensin I complex subunit G gene DOID:630 genetic disease ISO RGD:1605960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925082 NCAPG non-SMC condensin I complex subunit G gene DOID:684 hepatocellular carcinoma ISO RGD:1605960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11925082 NCAPG non-SMC condensin I complex subunit G gene DOID:9000918 Disease Progression ISO RGD:1605960 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34480403 11925082 NCAPG non-SMC condensin I complex subunit G gene DOID:9007715 Endometrial Neoplasms ISO RGD:1605960 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34480403 11925110 SLC26A7 solute carrier family 26 member 7 gene DOID:0050328 congenital hypothyroidism ISO RGD:1321983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:31372509 11925110 SLC26A7 solute carrier family 26 member 7 gene DOID:5419 schizophrenia ISO RGD:1321983 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 11925110 SLC26A7 solute carrier family 26 member 7 gene DOID:630 genetic disease ISO RGD:1321983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925137 PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1317307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 11925137 PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:10283 prostate cancer ISO RGD:1317307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11925137 PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:2043 hepatitis B ISO RGD:1317307 D RGD:9068941 20220317 RGD associated with hepatocellular carcinoma;mRNA:increased expression:liver (human) PMID:25151370|REF_RGD_ID:151665185 11925137 PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1317307 D RGD:9068941 20220317 RGD mRNA:increased expression:lung (human) PMID:32537022|REF_RGD_ID:151665184 11925137 PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1317307 D RGD:9068941 20220317 RGD mRNA:increased expression:lung (human) PMID:31711559|REF_RGD_ID:151665187 11925137 PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:4927 Klatskin's tumor sexual_dimorphism ISO RGD:1317307 D RGD:9068941 20220310 RGD DNA:substitutions, insertion/deletions: (human) PMID:33387086|REF_RGD_ID:126848756 11925137 PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:4947 cholangiocarcinoma sexual_dimorphism ISO RGD:1317307 D RGD:9068941 20220317 RGD DNA:substitutions, insertion/deletions: (human) PMID:28000796|REF_RGD_ID:151665188 11925137 PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1317307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:26614431 11925137 PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:630 genetic disease ISO RGD:1317307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11925137 PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1317307 D RGD:9068941 20220317 RGD mRNA:decreased expression:liver (human) PMID:28000796|REF_RGD_ID:151665188 11925137 PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1317307 D RGD:9068941 20220324 RGD mRNA:increased expression:liver (human) PMID:31776854|REF_RGD_ID:151665343 11925137 PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1317307 D RGD:9068941 20220317 RGD mRNA:increased expression:liver (human) PMID:25151370|REF_RGD_ID:151665185 11925137 PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1317307 D RGD:9068941 20220317 RGD protein:increased expression:liver (human) PMID:28205209|REF_RGD_ID:151665186 11925181 FAM162A family with sequence similarity 162 member A gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1603057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 11925181 FAM162A family with sequence similarity 162 member A gene DOID:630 genetic disease ISO RGD:1603057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925181 FAM162A family with sequence similarity 162 member A gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1603057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 11925181 FAM162A family with sequence similarity 162 member A gene DOID:9270 alkaptonuria ISO RGD:1603057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11925193 FNDC9 fibronectin type III domain containing 9 gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1606861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 11925193 FNDC9 fibronectin type III domain containing 9 gene DOID:630 genetic disease ISO RGD:1606861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925205 FARSA phenylalanyl-tRNA synthetase subunit alpha gene DOID:0050990 episodic ataxia type 2 ISO RGD:1321146 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11925205 FARSA phenylalanyl-tRNA synthetase subunit alpha gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1321146 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11925205 FARSA phenylalanyl-tRNA synthetase subunit alpha gene DOID:0111254 glutaric acidemia I ISO RGD:1321146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11925205 FARSA phenylalanyl-tRNA synthetase subunit alpha gene DOID:3413 alpha-mannosidosis ISO RGD:1321146 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11925205 FARSA phenylalanyl-tRNA synthetase subunit alpha gene DOID:630 genetic disease ISO RGD:1321146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925205 FARSA phenylalanyl-tRNA synthetase subunit alpha gene DOID:9001670 Rajab Interstitial Lung Disease with Brain Calcifications 2 ISO RGD:1321146 D RGD:7240710 20200930 OMIM 11925205 FARSA phenylalanyl-tRNA synthetase subunit alpha gene DOID:9001670 Rajab Interstitial Lung Disease with Brain Calcifications 2 ISO RGD:1321146 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 2 PMID:25741868|PMID:31355908 11925222 RTL8B retrotransposon Gag like 8B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11925222 RTL8B retrotransposon Gag like 8B gene DOID:12849 autistic disorder ISO RGD:1604676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11925222 RTL8B retrotransposon Gag like 8B gene DOID:630 genetic disease ISO RGD:1604676 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925227 RBMS3 RNA binding motif single stranded interacting protein 3 gene DOID:13641 exfoliation syndrome ISO RGD:1343809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28553957 11925227 RBMS3 RNA binding motif single stranded interacting protein 3 gene DOID:630 genetic disease ISO RGD:1343809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925248 GPR155 G protein-coupled receptor 155 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1319348 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11925248 GPR155 G protein-coupled receptor 155 gene DOID:12849 autistic disorder ISO RGD:1319348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17519220 11925248 GPR155 G protein-coupled receptor 155 gene DOID:630 genetic disease ISO RGD:1319348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925248 GPR155 G protein-coupled receptor 155 gene DOID:9005369 Hepatomegaly ISO RGD:1319348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 11925268 NSFL1C NSFL1 cofactor gene DOID:630 genetic disease ISO RGD:734170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925283 SPATA16 spermatogenesis associated 16 gene DOID:0070167 spermatogenic failure 6 ISO RGD:1351808 D RGD:7240710 20180130 OMIM 11925283 SPATA16 spermatogenesis associated 16 gene DOID:0070167 spermatogenic failure 6 ISO RGD:1351808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Globozoospermia PMID:17847006|PMID:24265589|PMID:25741868|PMID:28492532|PMID:29065458 11925283 SPATA16 spermatogenesis associated 16 gene DOID:0111910 spermatogenic failure ISO RGD:1351808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic Failure 11925283 SPATA16 spermatogenesis associated 16 gene DOID:0112312 male infertility due to globozoospermia ISO RGD:1351808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Globozoospermia PMID:17847006|PMID:24265589|PMID:25741868|PMID:28492532|PMID:29065458 11925283 SPATA16 spermatogenesis associated 16 gene DOID:1062 Fanconi syndrome ISO RGD:1351808 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 11925283 SPATA16 spermatogenesis associated 16 gene DOID:12336 male infertility ISO RGD:1557391 D RGD:9068941 20220825 MouseDO 11925283 SPATA16 spermatogenesis associated 16 gene DOID:630 genetic disease ISO RGD:1351808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925298 LRRC72 leucine rich repeat containing 72 gene DOID:0111234 congenital muscular dystrophy-dystroglycanopathy A7 ISO RGD:5508492 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 PMID:23288328|PMID:28492532 11925298 LRRC72 leucine rich repeat containing 72 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:5508492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11925298 LRRC72 leucine rich repeat containing 72 gene DOID:630 genetic disease ISO RGD:5508492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925311 YTHDC2 YTH N6-methyladenosine RNA binding protein C2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348696 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11925311 YTHDC2 YTH N6-methyladenosine RNA binding protein C2 gene DOID:10283 prostate cancer ISO RGD:1348696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11925311 YTHDC2 YTH N6-methyladenosine RNA binding protein C2 gene DOID:14228 oligospermia ISO RGD:1348696 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:34822792 11925311 YTHDC2 YTH N6-methyladenosine RNA binding protein C2 gene DOID:630 genetic disease ISO RGD:1348696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925311 YTHDC2 YTH N6-methyladenosine RNA binding protein C2 gene DOID:9002321 Teratozoospermia ISO RGD:1348696 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:34822792 11925311 YTHDC2 YTH N6-methyladenosine RNA binding protein C2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11925311 YTHDC2 YTH N6-methyladenosine RNA binding protein C2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348696 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11925348 ATP4B ATPase H+/K+ transporting subunit beta gene DOID:0040090 autoimmune gastritis ISO RGD:10213 D RGD:9068941 20200609 RGD PMID:8393475|REF_RGD_ID:14696740 11925348 ATP4B ATPase H+/K+ transporting subunit beta gene DOID:0040090 autoimmune gastritis ISO RGD:737185 D RGD:9068941 20200609 RGD PMID:7517707|REF_RGD_ID:14696746 11925348 ATP4B ATPase H+/K+ transporting subunit beta gene DOID:10534 stomach cancer ISO RGD:737185 D RGD:9068941 20200609 RGD DNA:hypermethylation:exon, stomach, plasma PMID:23317218|REF_RGD_ID:14696738 11925348 ATP4B ATPase H+/K+ transporting subunit beta gene DOID:11476 osteoporosis treatment ISO RGD:10213 D RGD:9068941 20200609 RGD PMID:26869358|REF_RGD_ID:14696735 11925348 ATP4B ATPase H+/K+ transporting subunit beta gene DOID:2222 factor X deficiency ISO RGD:737185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 11925348 ATP4B ATPase H+/K+ transporting subunit beta gene DOID:630 genetic disease ISO RGD:737185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925348 ATP4B ATPase H+/K+ transporting subunit beta gene DOID:8757 gastric mucosal hypertrophy ISO RGD:10213 D RGD:9068941 20200609 RGD PMID:20476858|REF_RGD_ID:14696744 11925348 ATP4B ATPase H+/K+ transporting subunit beta gene DOID:8929 atrophic gastritis ISO RGD:737185 D RGD:9068941 20200609 RGD PMID:30539573|REF_RGD_ID:14696739 11925348 ATP4B ATPase H+/K+ transporting subunit beta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2178 D RGD:9068941 20200609 RGD PMID:20237950|REF_RGD_ID:14696743 11925348 ATP4B ATPase H+/K+ transporting subunit beta gene DOID:9970 obesity treatment ISO RGD:2178 D RGD:9068941 20200609 RGD PMID:25822172|REF_RGD_ID:14696745 11925379 PLXND1 plexin D1 gene DOID:0060165 Kleine-Levin syndrome ISO RGD:1321904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kleine-Levin syndrome PMID:28492532 11925379 PLXND1 plexin D1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1321904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 11925379 PLXND1 plexin D1 gene DOID:11198 DiGeorge syndrome ISO RGD:1553585 D RGD:9068941 20220825 MouseDO OMIM:188400 11925379 PLXND1 plexin D1 gene DOID:13501 Moebius syndrome ISO RGD:1321904 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum PMID:25741868 11925379 PLXND1 plexin D1 gene DOID:224 transient cerebral ischemia ameliorates ISO RGD:1310796 D RGD:9068941 20221117 RGD PMID:30653356|REF_RGD_ID:155663383 11925379 PLXND1 plexin D1 gene DOID:630 genetic disease ISO RGD:1321904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925379 PLXND1 plexin D1 gene DOID:9006145 Congenital Heart Defects, Multiple Types, 9 ISO RGD:1321904 D RGD:7240710 20230505 OMIM 11925379 PLXND1 plexin D1 gene DOID:9006145 Congenital Heart Defects, Multiple Types, 9 ISO RGD:1321904 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 9 PMID:2194395|PMID:24254849|PMID:35396997|PMID:8042678 11925379 PLXND1 plexin D1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1321904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 11925379 PLXND1 plexin D1 gene DOID:9270 alkaptonuria ISO RGD:1321904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11925379 PLXND1 plexin D1 gene DOID:9775 diastolic heart failure ISO RGD:1321904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 11925425 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:0050160 inhalation anthrax disease_progression ISO RGD:1316123 D RGD:9068941 20200609 RGD PMID:21124994|REF_RGD_ID:5135283 11925425 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:0080600 COVID-19 ISO RGD:1316122 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11925425 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:0081267 graft-versus-host disease ISO RGD:1316123 D RGD:9068941 20200609 RGD protein:increased expression:intestine, liver, lung PMID:19218194|REF_RGD_ID:5135435 11925425 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:10608 celiac disease ISO RGD:1316122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 11925425 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1316122 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17550373|REF_RGD_ID:5135438 11925425 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:13949 interstitial cystitis ISO RGD:1316122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18957084 11925425 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:2799 bronchiolitis obliterans ISO RGD:1316122 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:12097412|REF_RGD_ID:5135451 11925425 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:2799 bronchiolitis obliterans ISO RGD:1316123 D RGD:9068941 20200609 RGD PMID:12097412|REF_RGD_ID:5135451 11925425 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1316123 D RGD:9068941 20200702 RGD PMID:32553273|REF_RGD_ID:32716426 11925425 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1316122 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:17925429|REF_RGD_ID:5135436 11925425 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1316122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24979617 11925425 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:630 genetic disease ISO RGD:1316122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925425 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:684 hepatocellular carcinoma ISO RGD:1316123 D RGD:9068941 20210423 RGD mRNA:increased expression:liver (mouse) PMID:26569409|REF_RGD_ID:11344640 11925425 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1316123 D RGD:9068941 20200609 RGD PMID:14991597|REF_RGD_ID:5135448 11925425 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:874 bacterial pneumonia ISO RGD:1316123 D RGD:9068941 20200609 RGD PMID:15618188|REF_RGD_ID:5135459 11925425 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1316122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 11925425 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1316122 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11925436 TMEM43 transmembrane protein 43 gene DOID:0050427 xeroderma pigmentosum ISO RGD:1348900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:18414213|PMID:23400628|PMID:25741868|PMID:28492532 11925436 TMEM43 transmembrane protein 43 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1348900 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:18313022|PMID:18414213|PMID:19467449|PMID:20010364|PMID:21214875|PMID:22458570|PMID:22725725|PMID:23161701|PMID:23400628|PMID:23671136|PMID:23810883|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24598986|PMID:25343256|PMID:25741868|PMID:26467025|PMID:26513349|PMID:27153395|PMID:28471438|PMID:28491673|PMID:28492532|PMID:29040414|PMID:29980933|PMID:30700137 11925436 TMEM43 transmembrane protein 43 gene DOID:0050700 cardiomyopathy ISO RGD:1348900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:17576681|PMID:18313022|PMID:18414213|PMID:19467449|PMID:20010364|PMID:20435227|PMID:21214875|PMID:21391237|PMID:21636032|PMID:22458570|PMID:22725725|PMID:23161701|PMID:23178689|PMID:23555315|PMID:23671136|PMID:23810883|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24598986|PMID:25214167|PMID:25343256|PMID:25351510|PMID:25676813|PMID:25741868|PMID:25820315|PMID:26467025|PMID:26513349|PMID:26743238|PMID:26840987|PMID:27153395|PMID:27532257|PMID:28166811|PMID:28301460|PMID:28471438|PMID:28491673|PMID:28492532|PMID:28750076|PMID:29040414|PMID:29247119|PMID:29980933|PMID:30206291|PMID:30700137|PMID:31333075|PMID:31568572|PMID:9536098 11925436 TMEM43 transmembrane protein 43 gene DOID:0050700 cardiomyopathy ISO RGD:1348900 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:17576681|PMID:18313022|PMID:18414213|PMID:19467449|PMID:20010364|PMID:20435227|PMID:21214875|PMID:21391237|PMID:21636032|PMID:22458570|PMID:22725725|PMID:23161701|PMID:23178689|PMID:23555315|PMID:23671136|PMID:23810883|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24598986|PMID:25214167|PMID:25343256|PMID:25351510|PMID:25676813|PMID:25741868|PMID:25820315|PMID:26214305|PMID:26467025|PMID:26513349|PMID:26743238|PMID:26840987|PMID:27005929|PMID:27153395|PMID:27532257|PMID:28087566|PMID:28166811|PMID:28301460|PMID:28341588|PMID:28471438|PMID:28491673|PMID:28492532|PMID:28750076|PMID:29040414|PMID:29192238|PMID:29311375|PMID:29476165|PMID:29980933|PMID:30206291|PMID:30276209|PMID:30700137|PMID:30847666|PMID:30975432|PMID:31333075|PMID:31376648|PMID:31568572|PMID:31847883|PMID:32840935|PMID:33552729|PMID:33652588|PMID:33968641|PMID:34050020|PMID:9536098 11925436 TMEM43 transmembrane protein 43 gene DOID:0050700 cardiomyopathy ISO RGD:1348900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:16199547|PMID:17576681|PMID:18313022|PMID:18414213|PMID:19467449|PMID:20010364|PMID:20435227|PMID:21214875|PMID:21391237|PMID:21636032|PMID:22458570|PMID:22725725|PMID:23161701|PMID:23178689|PMID:23555315|PMID:23671136|PMID:23810883|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24598986|PMID:25214167|PMID:25343256|PMID:25351510|PMID:25676813|PMID:25741868|PMID:25820315|PMID:26214305|PMID:26467025|PMID:26513349|PMID:26743238|PMID:26840987|PMID:27005929|PMID:27153395|PMID:27532257|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28471438|PMID:28491673|PMID:28492532|PMID:28750076|PMID:29040414|PMID:29192238|PMID:29247119|PMID:29311375|PMID:29476165|PMID:29980933|PMID:30206291|PMID:30276209|PMID:30615648|PMID:30700137|PMID:30847666|PMID:30975432|PMID:31333075|PMID:31376648|PMID:31568572|PMID:31847883|PMID:32840935|PMID:32880476|PMID:33552729|PMID:33652588|PMID:33968641|PMID:34050020|PMID:9536098 11925436 TMEM43 transmembrane protein 43 gene DOID:0060417 3p deletion syndrome ISO RGD:1348900 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 11925436 TMEM43 transmembrane protein 43 gene DOID:0070252 autosomal dominant Emery-Dreifuss muscular dystrophy 7 ISO RGD:1348900 D RGD:7240710 20180130 OMIM 11925436 TMEM43 transmembrane protein 43 gene DOID:0070252 autosomal dominant Emery-Dreifuss muscular dystrophy 7 ISO RGD:1348900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 7, AD | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 7, autosomal dominant PMID:18230648|PMID:18313022|PMID:18414213|PMID:20435227|PMID:21391237|PMID:21636032|PMID:23161701|PMID:23178689|PMID:23555315|PMID:23812740|PMID:23861362|PMID:24033266|PMID:25343256|PMID:25351510|PMID:25741868|PMID:25820315|PMID:26467025|PMID:26840987|PMID:28492532|PMID:29311375|PMID:30847666|PMID:34050020 11925436 TMEM43 transmembrane protein 43 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1348900 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25741868|PMID:26214305|PMID:28492532|PMID:33552729 11925436 TMEM43 transmembrane protein 43 gene DOID:0110074 arrhythmogenic right ventricular dysplasia 5 ISO RGD:1348900 D RGD:7240710 20180130 OMIM 11925436 TMEM43 transmembrane protein 43 gene DOID:0110074 arrhythmogenic right ventricular dysplasia 5 ISO RGD:1348900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 5 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 5 PMID:16199547|PMID:17576681|PMID:18230648|PMID:18313022|PMID:18414213|PMID:19467449|PMID:20010364|PMID:20435227|PMID:21214875|PMID:21391237|PMID:21636032|PMID:22458570|PMID:22725725|PMID:23161701|PMID:23178689|PMID:23555315|PMID:23671136|PMID:23810883|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24598986|PMID:25214167|PMID:25343256|PMID:25351510|PMID:25676813|PMID:25741868|PMID:25820315|PMID:26214305|PMID:26467025|PMID:26513349|PMID:26743238|PMID:26840987|PMID:27005929|PMID:27153395|PMID:27532257|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28491673|PMID:28492532|PMID:28750076|PMID:29040414|PMID:29192238|PMID:29247119|PMID:29311375|PMID:29980933|PMID:30206291|PMID:30276209|PMID:30471092|PMID:30615648|PMID:30700137|PMID:30847666|PMID:30975432|PMID:31333075|PMID:31376648|PMID:31568572|PMID:32880476|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33968641|PMID:34050020|PMID:9536098 11925436 TMEM43 transmembrane protein 43 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1348900 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:26214305|PMID:28492532|PMID:33552729 11925436 TMEM43 transmembrane protein 43 gene DOID:0110844 xeroderma pigmentosum group C ISO RGD:1348900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group C PMID:18414213|PMID:23400628|PMID:25741868|PMID:28492532 11925436 TMEM43 transmembrane protein 43 gene DOID:0112373 autosomal dominant auditory neuropathy 3 ISO RGD:1348900 D RGD:7240710 20220427 OMIM 11925436 TMEM43 transmembrane protein 43 gene DOID:0112373 autosomal dominant auditory neuropathy 3 ISO RGD:1348900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant 3 PMID:18230648|PMID:20435227|PMID:21391237|PMID:21636032|PMID:23161701|PMID:23178689|PMID:23555315|PMID:23812740|PMID:23861362|PMID:24033266|PMID:25343256|PMID:25351510|PMID:25741868|PMID:25820315|PMID:26467025|PMID:26840987|PMID:28492532|PMID:29311375|PMID:30847666|PMID:34050020 11925436 TMEM43 transmembrane protein 43 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1348900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11925436 TMEM43 transmembrane protein 43 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1348900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:18313022|PMID:19467449|PMID:20010364|PMID:21214875|PMID:22458570|PMID:22725725|PMID:23671136|PMID:23810883|PMID:23812740|PMID:24125834|PMID:24598986|PMID:25343256|PMID:25741868|PMID:26513349|PMID:28491673|PMID:28492532|PMID:29040414|PMID:29980933|PMID:30700137 11925436 TMEM43 transmembrane protein 43 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18313022|PMID:19467449|PMID:20010364|PMID:21214875|PMID:22458570|PMID:22725725|PMID:23671136|PMID:23810883|PMID:23812740|PMID:24125834|PMID:24598986|PMID:25343256|PMID:25741868|PMID:26513349|PMID:28491673|PMID:28492532|PMID:29040414|PMID:29980933|PMID:30700137 11925436 TMEM43 transmembrane protein 43 gene DOID:2843 long QT syndrome ISO RGD:1348900 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25343256|PMID:25741868|PMID:28492532 11925436 TMEM43 transmembrane protein 43 gene DOID:630 genetic disease ISO RGD:1348900 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11925436 TMEM43 transmembrane protein 43 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1348900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 11925436 TMEM43 transmembrane protein 43 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11925436 TMEM43 transmembrane protein 43 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1348900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 11925453 HTRA3 HtrA serine peptidase 3 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1354015 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 11925453 HTRA3 HtrA serine peptidase 3 gene DOID:630 genetic disease ISO RGD:1354015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925466 WNT7A Wnt family member 7A gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:69159 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 11925466 WNT7A Wnt family member 7A gene DOID:0060417 3p deletion syndrome ISO RGD:69159 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 11925466 WNT7A Wnt family member 7A gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:69159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex 11925466 WNT7A Wnt family member 7A gene DOID:0090067 Fuhrmann syndrome ISO RGD:69159 D RGD:7240710 20180130 OMIM 11925466 WNT7A Wnt family member 7A gene DOID:0090067 Fuhrmann syndrome ISO RGD:69159 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fuhrmann syndrome PMID:16826533|PMID:25741868|PMID:28492532|PMID:9128926 11925466 WNT7A Wnt family member 7A gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:69159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 11925466 WNT7A Wnt family member 7A gene DOID:0112181 Schinzel type phocomelia ISO RGD:69159 D RGD:7240710 20180130 OMIM 11925466 WNT7A Wnt family member 7A gene DOID:0112181 Schinzel type phocomelia ISO RGD:69159 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Schinzel phocomelia syndrome PMID:16826533|PMID:20949531|PMID:21271649|PMID:21344627|PMID:25741868 11925466 WNT7A Wnt family member 7A gene DOID:127 leiomyoma ISO RGD:69159 D RGD:9068941 20200609 RGD Uterine Leiomyoma; mRNA:decreased expression,increased expression:tumor:decreased in 20/30, increased in 9/30 tumors vs paired adjacent myometria PMID:11232041|REF_RGD_ID:2298847 11925466 WNT7A Wnt family member 7A gene DOID:630 genetic disease ISO RGD:69159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925466 WNT7A Wnt family member 7A gene DOID:9002739 Female Urogenital Diseases ISO RGD:69159 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 11925466 WNT7A Wnt family member 7A gene DOID:9002762 Ovarian Neoplasms ISO RGD:69159 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25174399 11925466 WNT7A Wnt family member 7A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69160 D RGD:9068941 20200609 RGD in vitro transformation of transfected C57MG mammary epithelial cell line PMID:8065359|PMID:9419423|REF_RGD_ID:2298848|REF_RGD_ID:2298863 11925466 WNT7A Wnt family member 7A gene DOID:9007150 Urogenital Neoplasms ISO RGD:69159 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15751030 11925511 GYS2 glycogen synthase 2 gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:733991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:28492532 11925511 GYS2 glycogen synthase 2 gene DOID:2747 glycogen storage disease ISO RGD:733991 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glycogen storage disease PMID:12072888|PMID:18341095|PMID:20051115|PMID:24033266|PMID:25070466|PMID:25741868|PMID:28245189|PMID:28492532|PMID:32395408|PMID:32779500|PMID:9691087 11925511 GYS2 glycogen synthase 2 gene DOID:5419 schizophrenia ISO RGD:733991 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11925511 GYS2 glycogen synthase 2 gene DOID:630 genetic disease ISO RGD:733991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11925511 GYS2 glycogen synthase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:733991 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11925511 GYS2 glycogen synthase 2 gene DOID:9006581 Glycogen Storage Disease 0, Liver ISO RGD:733991 D RGD:7240710 20180130 OMIM 11925511 GYS2 glycogen synthase 2 gene DOID:9006581 Glycogen Storage Disease 0, Liver ISO RGD:733991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypoglycemia with deficiency of glycogen synthetase in the liver | ClinVar Annotator: match by term: LIVER GLYCOGEN SYNTHASE DEFICIENCY PMID:106027|PMID:12072888|PMID:141912|PMID:16199547|PMID:16337419|PMID:17576681|PMID:18341095|PMID:20051115|PMID:24033266|PMID:25070466|PMID:25741868|PMID:28245189|PMID:28492532|PMID:29167993|PMID:32377253|PMID:32395408|PMID:32779500|PMID:8534634|PMID:9536098|PMID:9691087 11925531 FAM118A family with sequence similarity 118 member A gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1345510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11925531 FAM118A family with sequence similarity 118 member A gene DOID:1059 intellectual disability ISO RGD:1345510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11925531 FAM118A family with sequence similarity 118 member A gene DOID:630 genetic disease ISO RGD:1345510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925549 IL12RB1 interleukin 12 receptor subunit beta 1 gene DOID:0111955 immunodeficiency 27A ISO RGD:1349194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:19460324|PMID:24033266|PMID:25741868|PMID:28492532 11925549 IL12RB1 interleukin 12 receptor subunit beta 1 gene DOID:0111990 immunodeficiency 30 ISO RGD:1349194 D RGD:7240710 20180130 OMIM 11925549 IL12RB1 interleukin 12 receptor subunit beta 1 gene DOID:0111990 immunodeficiency 30 ISO RGD:1349194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency PMID:11313259|PMID:11368122|PMID:11424023|PMID:11992283|PMID:12591909|PMID:12594833|PMID:12830418|PMID:15178580|PMID:15736007|PMID:16088278|PMID:16199547|PMID:16293671|PMID:16418797|PMID:16531420|PMID:17392024|PMID:17576681|PMID:19379268|PMID:19460324|PMID:20213287|PMID:21057261|PMID:21812800|PMID:21905505|PMID:24033266|PMID:24186907|PMID:24678409|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26343451|PMID:26621323|PMID:27141500|PMID:27329137|PMID:28492532|PMID:29025965|PMID:29256176|PMID:29995221|PMID:30715640|PMID:30740107|PMID:30998751|PMID:31158284|PMID:31367980|PMID:32221732|PMID:32888943|PMID:33732252|PMID:34060650|PMID:9536098|PMID:9603732|PMID:9603733 11925549 IL12RB1 interleukin 12 receptor subunit beta 1 gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:1349194 D RGD:9068941 20200609 RGD RNA:increased expression:peripheral blood mononuclear cell (human) PMID:23910013|REF_RGD_ID:14700865 11925549 IL12RB1 interleukin 12 receptor subunit beta 1 gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:1550152 D RGD:9068941 20200609 RGD RNA:increased expression:peripheral blood mononuclear cell (human) PMID:23910013|REF_RGD_ID:14700865 11925549 IL12RB1 interleukin 12 receptor subunit beta 1 gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:620025 D RGD:9068941 20200609 RGD RNA:increased expression:peripheral blood mononuclear cell (human) PMID:23910013|REF_RGD_ID:14700865 11925549 IL12RB1 interleukin 12 receptor subunit beta 1 gene DOID:2316 brain ischemia ISO RGD:1349194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 11925549 IL12RB1 interleukin 12 receptor subunit beta 1 gene DOID:399 tuberculosis ISO RGD:1349194 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to PMID:12591909|PMID:28492532|PMID:9603733 11925549 IL12RB1 interleukin 12 receptor subunit beta 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1349194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:11368122|PMID:12591909|PMID:16293671|PMID:16418797|PMID:20213287|PMID:25741868|PMID:28492532 11925549 IL12RB1 interleukin 12 receptor subunit beta 1 gene DOID:630 genetic disease ISO RGD:1349194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11313259|PMID:11424023|PMID:12591909|PMID:16293671|PMID:21057261|PMID:28492532|PMID:31367980 11925549 IL12RB1 interleukin 12 receptor subunit beta 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1349194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11925577 LOC100981148 fibroblast growth factor 11 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:734211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11925577 LOC100981148 fibroblast growth factor 11 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:734211 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11925577 LOC100981148 fibroblast growth factor 11 gene DOID:1059 intellectual disability ISO RGD:734211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11925577 LOC100981148 fibroblast growth factor 11 gene DOID:12177 common variable immunodeficiency ISO RGD:734211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11925577 LOC100981148 fibroblast growth factor 11 gene DOID:2729 dyskeratosis congenita ISO RGD:734211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11925577 LOC100981148 fibroblast growth factor 11 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:734211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11925577 LOC100981148 fibroblast growth factor 11 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:734211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 11925577 LOC100981148 fibroblast growth factor 11 gene DOID:630 genetic disease ISO RGD:734211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925588 GPATCH11 G-patch domain containing 11 gene DOID:630 genetic disease ISO RGD:1606673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925621 RETREG1 reticulophagy regulator 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1601869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838196 11925621 RETREG1 reticulophagy regulator 1 gene DOID:0070150 hereditary sensory and autonomic neuropathy type 2B ISO RGD:1601869 D RGD:7240710 20180130 OMIM 11925621 RETREG1 reticulophagy regulator 1 gene DOID:0070150 hereditary sensory and autonomic neuropathy type 2B ISO RGD:1601869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2B PMID:17576681|PMID:19838196|PMID:24327336|PMID:25741868|PMID:28492532|PMID:9536098 11925621 RETREG1 reticulophagy regulator 1 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1601869 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:25741868|PMID:28492532 11925621 RETREG1 reticulophagy regulator 1 gene DOID:0070161 hereditary sensory and autonomic neuropathy type 2 ISO RGD:1601869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 2 PMID:25741868|PMID:28492532 11925621 RETREG1 reticulophagy regulator 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1601869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:19838196|PMID:24327336|PMID:25741868|PMID:28492532 11925621 RETREG1 reticulophagy regulator 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1601869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868 11925621 RETREG1 reticulophagy regulator 1 gene DOID:630 genetic disease ISO RGD:1601869 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19838196|PMID:25741868|PMID:28492532 11925621 RETREG1 reticulophagy regulator 1 gene DOID:9003855 Vesicoureteral Reflux 5 ISO RGD:12057336 D RGD:9068941 20210820 OMIA Neuropathy, sensory, RETREG1-related PMID:15971901|PMID:16266014|PMID:23123885|PMID:27527794|PMID:30307654|PMID:30955094|PMID:34387380|PMID:6295050 11925621 RETREG1 reticulophagy regulator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11925637 XPNPEP2 X-prolyl aminopeptidase 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:734376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11925637 XPNPEP2 X-prolyl aminopeptidase 2 gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:734376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:22796527|PMID:24357419|PMID:28492532 11925637 XPNPEP2 X-prolyl aminopeptidase 2 gene DOID:0080941 acquired angioedema ISO RGD:734376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Susceptibility to angioedema induced by ACE inhibitors PMID:16175507|PMID:20625347|PMID:21898657 11925637 XPNPEP2 X-prolyl aminopeptidase 2 gene DOID:0080941 acquired angioedema susceptibility ISO RGD:734376 D RGD:7240710 20190502 OMIM 11925637 XPNPEP2 X-prolyl aminopeptidase 2 gene DOID:1056 oculocerebrorenal syndrome ISO RGD:734376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lowe syndrome PMID:22965764|PMID:28492532 11925637 XPNPEP2 X-prolyl aminopeptidase 2 gene DOID:12849 autistic disorder ISO RGD:734376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11925637 XPNPEP2 X-prolyl aminopeptidase 2 gene DOID:1558 angioedema ISO RGD:734376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16175507 11925637 XPNPEP2 X-prolyl aminopeptidase 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:734376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11925637 XPNPEP2 X-prolyl aminopeptidase 2 gene DOID:630 genetic disease ISO RGD:734376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925637 XPNPEP2 X-prolyl aminopeptidase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11925665 SHKBP1 SH3KBP1 binding protein 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1352927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11925665 SHKBP1 SH3KBP1 binding protein 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1352927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11925665 SHKBP1 SH3KBP1 binding protein 1 gene DOID:2340 craniosynostosis ISO RGD:1352927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11925665 SHKBP1 SH3KBP1 binding protein 1 gene DOID:630 genetic disease ISO RGD:1352927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925665 SHKBP1 SH3KBP1 binding protein 1 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1352927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11925665 SHKBP1 SH3KBP1 binding protein 1 gene DOID:9269 maple syrup urine disease ISO RGD:1352927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11925691 LHFPL1 LHFPL tetraspan subfamily member 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1601697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11925691 LHFPL1 LHFPL tetraspan subfamily member 1 gene DOID:12849 autistic disorder ISO RGD:1601697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11925691 LHFPL1 LHFPL tetraspan subfamily member 1 gene DOID:5419 schizophrenia ISO RGD:1601697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11925691 LHFPL1 LHFPL tetraspan subfamily member 1 gene DOID:630 genetic disease ISO RGD:1601697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925706 DNAAF4 dynein axonemal assembly factor 4 gene DOID:0050144 Kartagener syndrome ISO RGD:1343869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23872636 11925706 DNAAF4 dynein axonemal assembly factor 4 gene DOID:0060254 Robinow syndrome ISO RGD:1558065 D RGD:9068941 20220825 MouseDO 11925706 DNAAF4 dynein axonemal assembly factor 4 gene DOID:0060833 Griscelli syndrome type 2 ISO RGD:1343869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 2 PMID:28492532 11925706 DNAAF4 dynein axonemal assembly factor 4 gene DOID:0110615 primary ciliary dyskinesia 25 ISO RGD:1343869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 25 PMID:12954984|PMID:23872636|PMID:24033266|PMID:24824133|PMID:25186273|PMID:25741868|PMID:26139845|PMID:28492532|PMID:30067075|PMID:30290127|PMID:33760720 11925706 DNAAF4 dynein axonemal assembly factor 4 gene DOID:0110615 primary ciliary dyskinesia 25 susceptibility ISO RGD:1343869 D RGD:7240710 20230517 OMIM 11925706 DNAAF4 dynein axonemal assembly factor 4 gene DOID:12336 male infertility ISO RGD:1343869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23872636 11925706 DNAAF4 dynein axonemal assembly factor 4 gene DOID:2717 Bloom syndrome ISO RGD:1343869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11925706 DNAAF4 dynein axonemal assembly factor 4 gene DOID:4428 dyslexia ISO RGD:1343869 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dyslexia, susceptibility to, 1 PMID:12954984|PMID:23872636|PMID:24033266|PMID:25741868|PMID:28492532 11925706 DNAAF4 dynein axonemal assembly factor 4 gene DOID:4428 dyslexia susceptibility ISO RGD:1343869 D RGD:7240710 20230517 OMIM 11925706 DNAAF4 dynein axonemal assembly factor 4 gene DOID:630 genetic disease ISO RGD:1343869 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11925706 DNAAF4 dynein axonemal assembly factor 4 gene DOID:9256 colorectal cancer ISO RGD:1343869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11925706 DNAAF4 dynein axonemal assembly factor 4 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343869 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:23872636|PMID:24033266|PMID:24824133|PMID:25741868|PMID:26139845|PMID:28492532|PMID:30067075 11925730 DLGAP4 DLG associated protein 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1331940 D RGD:9068941 20220825 MouseDO 11925730 DLGAP4 DLG associated protein 4 gene DOID:2234 focal epilepsy ISO RGD:1605091 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11925730 DLGAP4 DLG associated protein 4 gene DOID:630 genetic disease ISO RGD:1605091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925778 ST8SIA5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 gene DOID:0060356 Vici syndrome ISO RGD:1349184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 11925778 ST8SIA5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 gene DOID:1059 intellectual disability ISO RGD:1349184 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11925778 ST8SIA5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 gene DOID:630 genetic disease ISO RGD:1349184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925778 ST8SIA5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1349184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 11925792 CMTM8 CKLF like MARVEL transmembrane domain containing 8 gene DOID:630 genetic disease ISO RGD:1351246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925800 CR1L complement C3b/C4b receptor 1 like gene DOID:0050589 inflammatory bowel disease ISO RGD:1348835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 11925800 CR1L complement C3b/C4b receptor 1 like gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1348835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 11925800 CR1L complement C3b/C4b receptor 1 like gene DOID:12849 autistic disorder ISO RGD:1348835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11925800 CR1L complement C3b/C4b receptor 1 like gene DOID:1540 parathyroid carcinoma ISO RGD:1348835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11925800 CR1L complement C3b/C4b receptor 1 like gene DOID:630 genetic disease ISO RGD:1348835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925800 CR1L complement C3b/C4b receptor 1 like gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1348835 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11925800 CR1L complement C3b/C4b receptor 1 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11925820 CLBA1 clathrin binding box of aftiphilin containing 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1316438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11925820 CLBA1 clathrin binding box of aftiphilin containing 1 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1316438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 11925829 PARD6G par-6 family cell polarity regulator gamma gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1312794 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11925829 PARD6G par-6 family cell polarity regulator gamma gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1312794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 11925829 PARD6G par-6 family cell polarity regulator gamma gene DOID:630 genetic disease ISO RGD:1312794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925829 PARD6G par-6 family cell polarity regulator gamma gene DOID:6420 pulmonary valve stenosis ISO RGD:1312794 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 11925829 PARD6G par-6 family cell polarity regulator gamma gene DOID:8445 intestinal volvulus ISO RGD:1312794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11925829 PARD6G par-6 family cell polarity regulator gamma gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1312794 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 11925829 PARD6G par-6 family cell polarity regulator gamma gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11925829 PARD6G par-6 family cell polarity regulator gamma gene DOID:9008419 Volvulus Of Midgut ISO RGD:1312794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11925840 C14H14orf39 chromosome 14 C14orf39 homolog gene DOID:0060252 sclerocornea ISO RGD:1350418 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sclerocornea 11925840 C14H14orf39 chromosome 14 C14orf39 homolog gene DOID:0070168 spermatogenic failure 3 ISO RGD:1350418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:33508233 11925840 C14H14orf39 chromosome 14 C14orf39 homolog gene DOID:0080635 optic disc anomalies with retinal and/or macular dystrophy ISO RGD:1350418 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY PMID:15266624|PMID:23167593|PMID:24702266|PMID:25741868|PMID:28492532 11925840 C14H14orf39 chromosome 14 C14orf39 homolog gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1350418 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia PMID:25741868|PMID:28492532 11925840 C14H14orf39 chromosome 14 C14orf39 homolog gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1350418 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:24875647|PMID:25741868|PMID:28492532 11925840 C14H14orf39 chromosome 14 C14orf39 homolog gene DOID:0112269 primary ovarian insufficiency 18 ISO RGD:1350418 D RGD:7240710 20210303 OMIM 11925840 C14H14orf39 chromosome 14 C14orf39 homolog gene DOID:0112269 primary ovarian insufficiency 18 ISO RGD:1350418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 18 PMID:33508233 11925840 C14H14orf39 chromosome 14 C14orf39 homolog gene DOID:0112270 spermatogenic failure 52 ISO RGD:1350418 D RGD:7240710 20210303 OMIM 11925840 C14H14orf39 chromosome 14 C14orf39 homolog gene DOID:0112270 spermatogenic failure 52 ISO RGD:1350418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 52 PMID:33508233 11925840 C14H14orf39 chromosome 14 C14orf39 homolog gene DOID:10629 microphthalmia ISO RGD:1350418 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia | ClinVar Annotator: match by term: Microphthalmos PMID:25741868|PMID:28492532 11925840 C14H14orf39 chromosome 14 C14orf39 homolog gene DOID:14227 azoospermia ISO RGD:1350418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia PMID:33508233 11925840 C14H14orf39 chromosome 14 C14orf39 homolog gene DOID:630 genetic disease ISO RGD:1350418 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11925840 C14H14orf39 chromosome 14 C14orf39 homolog gene DOID:83 cataract ISO RGD:1350418 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cataract 11925840 C14H14orf39 chromosome 14 C14orf39 homolog gene DOID:9007101 Isolated Microphthalmia with Cataract 2 ISO RGD:1350418 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus PMID:15266624|PMID:23167593|PMID:24702266|PMID:25741868|PMID:28492532 11925840 C14H14orf39 chromosome 14 C14orf39 homolog gene DOID:9650 pathologic nystagmus ISO RGD:1350418 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nystagmus 11925862 AWAT2 acyl-CoA wax alcohol acyltransferase 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11925862 AWAT2 acyl-CoA wax alcohol acyltransferase 2 gene DOID:10140 dry eye syndrome ISO RGD:1558296 D RGD:9068941 20220825 MouseDO 11925862 AWAT2 acyl-CoA wax alcohol acyltransferase 2 gene DOID:12849 autistic disorder ISO RGD:1606441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11925862 AWAT2 acyl-CoA wax alcohol acyltransferase 2 gene DOID:630 genetic disease ISO RGD:1606441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925873 TROAP trophinin associated protein gene DOID:0080600 COVID-19 ISO RGD:1315734 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11925873 TROAP trophinin associated protein gene DOID:630 genetic disease ISO RGD:1315734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925873 TROAP trophinin associated protein gene DOID:684 hepatocellular carcinoma ISO RGD:1315734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11925901 ASPA aspartoacylase gene DOID:0111406 Fraser syndrome 3 ISO RGD:1350952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 PMID:28492532 11925901 ASPA aspartoacylase gene DOID:1059 intellectual disability ISO RGD:1350952 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28101991|PMID:28492532|PMID:29453510 11925901 ASPA aspartoacylase gene DOID:3613 Canavan disease ISO RGD:1350952 D RGD:7240710 20180130 OMIM 11925901 ASPA aspartoacylase gene DOID:3613 Canavan disease ISO RGD:1350952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Canavan Disease, Familial Form | ClinVar Annotator: match by term: Mild Canavan disease | ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10407784|PMID:10564886|PMID:10701101|PMID:10704428|PMID:10724099|PMID:10909858|PMID:11238686|PMID:12205125|PMID:12638939|PMID:14567959|PMID:15243987|PMID:16138249|PMID:16199547|PMID:16217711|PMID:16437572|PMID:16802711|PMID:16854607|PMID:17027983|PMID:17194761|PMID:17391648|PMID:17576681|PMID:17999961|PMID:18070137|PMID:18978679|PMID:19685155|PMID:19932039|PMID:20129749|PMID:20301412|PMID:21228398|PMID:21520333|PMID:21907889|PMID:22019069|PMID:22219087|PMID:22611636|PMID:22750302|PMID:22850825|PMID:22878930|PMID:23233226|PMID:23253610|PMID:23971085|PMID:24033266|PMID:24036223|PMID:25003821|PMID:25107638|PMID:25668701|PMID:25741868|PMID:26586007|PMID:26992473|PMID:27102039|PMID:27457812|PMID:27531131|PMID:27927234|PMID:28101991|PMID:28492532|PMID:29453510|PMID:31839386|PMID:32403196|PMID:33547378|PMID:34011350|PMID:34316023|PMID:7599639|PMID:7668285|PMID:8023850|PMID:8037206|PMID:8088831|PMID:8252036|PMID:8659549|PMID:9452117|PMID:9536098|PMID:9537412|PMID:9887384 11925901 ASPA aspartoacylase gene DOID:3613 Canavan disease susceptibility ISO RGD:1350952 D RGD:9068941 20200609 RGD PMID:8252036|REF_RGD_ID:1599291 11925901 ASPA aspartoacylase gene DOID:630 genetic disease ISO RGD:1350952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10407784|PMID:10909858|PMID:11238686|PMID:12205125|PMID:12638939|PMID:16217711|PMID:16437572|PMID:16854607|PMID:17027983|PMID:17194761|PMID:17391648|PMID:18070137|PMID:18293939|PMID:20301412|PMID:21228398|PMID:22750302|PMID:22850825|PMID:23233226|PMID:23253610|PMID:23971085|PMID:24033266|PMID:25003821|PMID:25107638|PMID:25668701|PMID:25741868|PMID:26586007|PMID:27102039|PMID:27531131|PMID:27927234|PMID:28101991|PMID:28492532|PMID:34011350|PMID:7668285|PMID:8023850|PMID:8037206|PMID:8088831|PMID:8252036|PMID:8659549|PMID:9537412|PMID:9887384 11925901 ASPA aspartoacylase gene DOID:9000495 Tremor ISO RGD:621693 D RGD:9068941 20200609 RGD associated with Hcn1A354V allele PMID:27026062|REF_RGD_ID:13464274 11925901 ASPA aspartoacylase gene DOID:9002714 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type ISO RGD:1350952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE PMID:10909858|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 11925901 ASPA aspartoacylase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733059 D RGD:9068941 20200609 RGD protein:increased expression:duodenum, brain PMID:16707098|REF_RGD_ID:1601247 11925901 ASPA aspartoacylase gene DOID:9007952 Cystinosis, Ocular Nonnephropathic ISO RGD:1350952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic PMID:10909858|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 11925911 KRR1 KRR1 small subunit processome component homolog gene DOID:630 genetic disease ISO RGD:1314657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925926 IBTK inhibitor of Bruton tyrosine kinase gene DOID:10283 prostate cancer ISO RGD:1323289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11925926 IBTK inhibitor of Bruton tyrosine kinase gene DOID:630 genetic disease ISO RGD:1323289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925964 STX11 syntaxin 11 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1312365 D RGD:7240710 20180130 OMIM 11925964 STX11 syntaxin 11 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1312365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:15703195|PMID:16582076|PMID:17525286|PMID:20486178|PMID:24033266|PMID:24459464|PMID:24524345|PMID:24916509|PMID:25741868|PMID:26004995|PMID:26176172|PMID:28492532|PMID:28750028|PMID:29113160|PMID:29665027|PMID:30899265 11925964 STX11 syntaxin 11 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1312365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:15703195 11925964 STX11 syntaxin 11 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1312365 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:24524345|PMID:25741868|PMID:28492532 11925964 STX11 syntaxin 11 gene DOID:630 genetic disease ISO RGD:1312365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11925964 STX11 syntaxin 11 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1312365 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11925964 STX11 syntaxin 11 gene DOID:9004404 Familial Hemophagocytic Lymphohistiocytoses ISO RGD:1312365 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis PMID:20486178|PMID:24033266|PMID:25741868|PMID:28492532 11925970 PTCD2 pentatricopeptide repeat domain 2 gene DOID:630 genetic disease ISO RGD:1321137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925970 PTCD2 pentatricopeptide repeat domain 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:0060180 colitis ISO RGD:708446 D RGD:9068941 20200609 RGD PMID:16399111|REF_RGD_ID:2307162 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:0080162 lupus nephritis disease_progression ISO RGD:732280 D RGD:9068941 20200609 RGD PMID:15153561|REF_RGD_ID:5688164 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:0080599 Coronavirus infectious disease ISO RGD:732280 D RGD:9068941 20220825 MouseDO 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:0080600 COVID-19 ISO RGD:1349625 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:0081267 graft-versus-host disease severity ISO RGD:732280 D RGD:9068941 20200609 RGD PMID:17641205|REF_RGD_ID:5688177 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:0110033 autosomal recessive Alport syndrome ISO RGD:732280 D RGD:9068941 20200609 RGD PMID:15716328|REF_RGD_ID:5688157 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:10533 viral pneumonia ISO RGD:732280 D RGD:9068941 20200609 RGD PMID:15254170|REF_RGD_ID:5688163 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:10652 Alzheimer's disease severity ISO RGD:1349625 D RGD:9068941 20200609 RGD PMID:14595653|REF_RGD_ID:5688166 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:1205 allergic disease ISO RGD:1349625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:12217 Lewy body dementia ISO RGD:1349625 D RGD:9068941 20200609 RGD PMID:14595653|REF_RGD_ID:5688166 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:732280 D RGD:9068941 20200609 RGD PMID:15951834|REF_RGD_ID:5688155 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:13241 Behcet's disease ISO RGD:1349625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23291587 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:1407 anterior uveitis ISO RGD:708446 D RGD:9068941 20200609 RGD associated with Encephalomyelitis, Autoimmune, Experimental PMID:11687534|REF_RGD_ID:5688173 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:2773 contact dermatitis ISO RGD:1349625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:2841 asthma ISO RGD:732280 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15654816|REF_RGD_ID:5688158 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:2841 asthma severity ISO RGD:732280 D RGD:9068941 20200609 RGD associated with Respiratory Syncytial Virus Infections PMID:15593301|REF_RGD_ID:5688159 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:732280 D RGD:9068941 20200619 RGD mRNA:increased expression:lung (mouse) PMID:15356152|REF_RGD_ID:30309221 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1349625 D RGD:9068941 20200609 RGD PMID:18844696|REF_RGD_ID:5688176 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:3393 coronary artery disease ISO RGD:1349625 D RGD:9068941 20200609 RGD PMID:12742282|REF_RGD_ID:5508477 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:409 liver disease ISO RGD:1349625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:5082 liver cirrhosis ISO RGD:1349625 D RGD:9068941 20200609 RGD associated with Fatty Liver PMID:19280268|REF_RGD_ID:5688143 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:5434 scrapie ISO RGD:732280 D RGD:9068941 20200609 RGD PMID:18396336|REF_RGD_ID:5688145 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:552 pneumonia ISO RGD:1349625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:552 pneumonia ISO RGD:732280 D RGD:9068941 20200609 RGD PMID:20870892|REF_RGD_ID:5688175 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:630 genetic disease ISO RGD:1349625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:646 viral encephalitis ISO RGD:732280 D RGD:9068941 20200609 RGD PMID:18158733|REF_RGD_ID:5688146 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1349625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16284949 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1349625 D RGD:9068941 20200609 RGD PMID:12860725|REF_RGD_ID:5688170 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:783 end stage renal disease ISO RGD:732280 D RGD:9068941 20200609 RGD associated with Candidiasis, Invasive; PMID:22916017|REF_RGD_ID:7241817 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:824 periodontitis ISO RGD:732280 D RGD:9068941 20200609 RGD PMID:20053385|REF_RGD_ID:5688142 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:708446 D RGD:9068941 20200609 RGD PMID:21332278|REF_RGD_ID:5688138 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:9000722 Animal Hepatitis ISO RGD:732280 D RGD:9068941 20200609 RGD PMID:15368307|REF_RGD_ID:5688161 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:9002457 Experimental Arthritis ISO RGD:708446 D RGD:9068941 20200609 RGD PMID:14674010|REF_RGD_ID:1582346 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:9002457 Experimental Arthritis ISO RGD:732280 D RGD:9068941 20200609 RGD PMID:18608173|REF_RGD_ID:5688144 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:1349625 D RGD:9068941 20200609 RGD PMID:16493073|REF_RGD_ID:5688154 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:708446 D RGD:9068941 20200609 RGD PMID:14512166|PMID:14655765|REF_RGD_ID:5688165|REF_RGD_ID:5688167 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1349625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:732280 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:20410256|REF_RGD_ID:5688141 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:9004610 Acute Lung Injury ISO RGD:732280 D RGD:9068941 20200609 RGD associated with Pancreatitis PMID:17312463|REF_RGD_ID:5688151 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:9005372 Inflammation ISO RGD:732280 D RGD:9068941 20200609 RGD associated with Myocardial Infarction PMID:18088392|REF_RGD_ID:5688150 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:9005372 Inflammation ISO RGD:732280 D RGD:9068941 20200609 RGD associated with Sepsis PMID:17234893|REF_RGD_ID:5688152 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:9005930 Endotoxemia ISO RGD:732280 D RGD:9068941 20200609 RGD PMID:17016504|REF_RGD_ID:5688178 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:732280 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve, macrophage, T cell PMID:20500551|REF_RGD_ID:5688140 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:9007156 Enteritis ISO RGD:732280 D RGD:9068941 20200609 RGD PMID:11875005|REF_RGD_ID:5688172 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:9111 cutaneous leishmaniasis ISO RGD:732280 D RGD:9068941 20200609 RGD PMID:12874303|REF_RGD_ID:5688168 11925990 CCR1 C-C motif chemokine receptor 1 gene DOID:9246 cerebral amyloid angiopathy ISO RGD:1349625 D RGD:9068941 20200609 RGD PMID:14595653|REF_RGD_ID:5688166 11925996 CEP57L1 centrosomal protein 57 like 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1347020 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 11925996 CEP57L1 centrosomal protein 57 like 1 gene DOID:630 genetic disease ISO RGD:1347020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:735947 D RGD:9068941 20200609 RGD PMID:21309737|REF_RGD_ID:5147438 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:0050200 Korean hemorrhagic fever treatment ISO RGD:2895 D RGD:9068941 20200910 RGD PMID:17878294|REF_RGD_ID:2325989 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:0050589 inflammatory bowel disease ISO RGD:735948 D RGD:9068941 20220825 MouseDO 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:0050908 myelodysplastic syndrome ISO RGD:735947 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myelodysplasia PMID:25741868|PMID:28492532 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:735947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:0080600 COVID-19 ISO RGD:735947 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:32026671|PMID:32161940 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:0080600 COVID-19 severity ISO RGD:735947 D RGD:9068941 20200723 RGD protein:increased expression:serum (human) PMID:32164089|PMID:32297828|PMID:32365221|REF_RGD_ID:30310229|REF_RGD_ID:32716368|REF_RGD_ID:36049814 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:0110749 type 1 diabetes mellitus 10 ISO RGD:735947 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 10 PMID:17576681|PMID:17676041|PMID:25741868|PMID:28492532|PMID:9536098 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:0110749 type 1 diabetes mellitus 10 susceptibility ISO RGD:735947 D RGD:7240710 20230505 OMIM 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:0111968 immunodeficiency 41 ISO RGD:735947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency due to CD25 deficiency PMID:16199547|PMID:17196245|PMID:17576681|PMID:23261300|PMID:23416241|PMID:24033266|PMID:24116927|PMID:25741868|PMID:28492532|PMID:9096364|PMID:9536098 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:0111968 immunodeficiency 41 susceptibility ISO RGD:735947 D RGD:7240710 20230505 OMIM 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:10322 berylliosis ISO RGD:735947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8977230 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:10325 silicosis ISO RGD:735948 D RGD:9068941 20200609 RGD PMID:21072213|REF_RGD_ID:4891500 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome ISO RGD:735947 D RGD:9068941 20200609 RGD protein:increased expression:T cell PMID:21436245|REF_RGD_ID:5147436 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:735948 D RGD:9068941 20200609 RGD PMID:20639494|REF_RGD_ID:5147443 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:12894 Sjogren's syndrome ISO RGD:735948 D RGD:9068941 20220825 MouseDO OMIM:270150 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:1790 malignant mesothelioma ISO RGD:735947 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:2377 multiple sclerosis ISO RGD:735947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17660530|PMID:19119414|PMID:19525955|PMID:24076602 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:2377 multiple sclerosis ISO RGD:735947 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:19125193|REF_RGD_ID:2311526 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:2841 asthma ISO RGD:2895 D RGD:9068941 20200609 RGD PMID:17351063|REF_RGD_ID:2325990 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:2841 asthma ISO RGD:735948 D RGD:9068941 20200609 RGD PMID:20525707|PMID:21377197|REF_RGD_ID:5147437|REF_RGD_ID:5147445 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:2921 glomerulonephritis ISO RGD:735947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10910440 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:3042 allergic contact dermatitis ISO RGD:735947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:5419 schizophrenia ISO RGD:735947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:614 lymphopenia ISO RGD:735947 D RGD:9068941 20200609 RGD IL2RA/CD25 Deficiency, OMIM:606367 DNA:deletion, frameshift:CDS:4 bp deletion, nucleotides 60-64 PMID:9096364|REF_RGD_ID:1600117 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:630 genetic disease ISO RGD:735947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:7148 rheumatoid arthritis ISO RGD:735947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:20476861|PMID:23143596 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:8778 Crohn's disease ISO RGD:735947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:9002457 Experimental Arthritis ISO RGD:2895 D RGD:9068941 20200609 RGD PMID:17928458|REF_RGD_ID:2325988 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2895 D RGD:9068941 20200609 RGD PMID:19269041|REF_RGD_ID:2311529 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2895 D RGD:9068941 20200609 RGD PMID:18503494|REF_RGD_ID:2311530 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:2895 D RGD:9068941 20200609 RGD PMID:18250419|REF_RGD_ID:2325986 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:9351 diabetes mellitus ISO RGD:2895 D RGD:9068941 20200609 RGD PMID:18503494|REF_RGD_ID:2311530 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:735947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17676041|PMID:19119414|PMID:19701192|PMID:30224649 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:735947 D RGD:9068941 20200609 RGD DNA:SNPs PMID:19119414|REF_RGD_ID:2311527 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:735947 D RGD:9068941 20200609 RGD DNA:SNPs PMID:19106270|REF_RGD_ID:2311528 11926038 IL2RA interleukin 2 receptor subunit alpha gene DOID:986 alopecia areata ISO RGD:735947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20596022 11926050 DNASE1L2 deoxyribonuclease 1 like 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1318821 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 11926050 DNASE1L2 deoxyribonuclease 1 like 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1318821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 11926050 DNASE1L2 deoxyribonuclease 1 like 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1318821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11926050 DNASE1L2 deoxyribonuclease 1 like 2 gene DOID:1826 epilepsy ISO RGD:1318821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11926050 DNASE1L2 deoxyribonuclease 1 like 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1318821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11926050 DNASE1L2 deoxyribonuclease 1 like 2 gene DOID:2871 endometrial carcinoma ISO RGD:1318821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 11926050 DNASE1L2 deoxyribonuclease 1 like 2 gene DOID:630 genetic disease ISO RGD:1318821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926050 DNASE1L2 deoxyribonuclease 1 like 2 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1318821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 11926050 DNASE1L2 deoxyribonuclease 1 like 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11926060 ZMIZ2 zinc finger MIZ-type containing 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11926060 ZMIZ2 zinc finger MIZ-type containing 2 gene DOID:630 genetic disease ISO RGD:1605930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926060 ZMIZ2 zinc finger MIZ-type containing 2 gene DOID:9006030 Infant Death ISO RGD:1605930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Death in infancy 11926102 PGAP3 post-GPI attachment to proteins phospholipase 3 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1352306 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 11926102 PGAP3 post-GPI attachment to proteins phospholipase 3 gene DOID:1826 epilepsy ISO RGD:1352306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:30345601 11926102 PGAP3 post-GPI attachment to proteins phospholipase 3 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1352306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of hemidiaphragm PMID:25741868|PMID:30345601 11926102 PGAP3 post-GPI attachment to proteins phospholipase 3 gene DOID:630 genetic disease ISO RGD:1352306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29310717|PMID:34582790|PMID:35887114 11926102 PGAP3 post-GPI attachment to proteins phospholipase 3 gene DOID:674 cleft palate ISO RGD:1352306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:25741868|PMID:30345601 11926102 PGAP3 post-GPI attachment to proteins phospholipase 3 gene DOID:9005046 Hyperphosphatasia with Impaired Intellectual Development Syndrome ISO RGD:1352306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11926102 PGAP3 post-GPI attachment to proteins phospholipase 3 gene DOID:9007958 Hyperphosphatasia with Mental Retardation Syndrome 4 ISO RGD:1352306 D RGD:7240710 20180130 OMIM 11926102 PGAP3 post-GPI attachment to proteins phospholipase 3 gene DOID:9007958 Hyperphosphatasia with Mental Retardation Syndrome 4 ISO RGD:1352306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 10 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4 PMID:16199547|PMID:17576681|PMID:22315194|PMID:2443911|PMID:24439110|PMID:25741868|PMID:27120253|PMID:28327575|PMID:28390064|PMID:28492532|PMID:29310717|PMID:29531774|PMID:29620724|PMID:30217754|PMID:30345601|PMID:32845056|PMID:32860008|PMID:34582790|PMID:35887114|PMID:9536098 11926102 PGAP3 post-GPI attachment to proteins phospholipase 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1352306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:30345601 11926115 WDR83 WD repeat domain 83 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1601942 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11926115 WDR83 WD repeat domain 83 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1601942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11926115 WDR83 WD repeat domain 83 gene DOID:0111254 glutaric acidemia I ISO RGD:1601942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11926115 WDR83 WD repeat domain 83 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1601942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:28332277 11926115 WDR83 WD repeat domain 83 gene DOID:3413 alpha-mannosidosis ISO RGD:1601942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:22161967|PMID:28492532|PMID:32331969|PMID:9915946 11926115 WDR83 WD repeat domain 83 gene DOID:630 genetic disease ISO RGD:1601942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926129 MIR3667HG MIR3667 host gene gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:2303885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11926137 SEPTIN5 septin 5 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1350777 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 11926137 SEPTIN5 septin 5 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1350777 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 11926137 SEPTIN5 septin 5 gene DOID:11198 DiGeorge syndrome ISO RGD:1350777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:25516202|PMID:28492532 11926137 SEPTIN5 septin 5 gene DOID:12583 velocardiofacial syndrome ISO RGD:1350777 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 11926137 SEPTIN5 septin 5 gene DOID:12849 autistic disorder ISO RGD:1350777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11926137 SEPTIN5 septin 5 gene DOID:1588 thrombocytopenia ISO RGD:1350777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10887115|PMID:25741868|PMID:31064749|PMID:32581362|PMID:34355501 11926137 SEPTIN5 septin 5 gene DOID:2213 hemorrhagic disease ISO RGD:1350777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 11926137 SEPTIN5 septin 5 gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1350777 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome PMID:10887115|PMID:17109744|PMID:25741868|PMID:28492532|PMID:31064749|PMID:32581362|PMID:34355501 11926137 SEPTIN5 septin 5 gene DOID:5419 schizophrenia ISO RGD:1350777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11926137 SEPTIN5 septin 5 gene DOID:630 genetic disease ISO RGD:1350777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926137 SEPTIN5 septin 5 gene DOID:9006593 Bernard-Soulier Syndrome, Type B ISO RGD:1350777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bernard-Soulier syndrome, type B | ClinVar Annotator: match by term: Macrothrombocytopenia, familial, Bernard-Soulier type PMID:10887115|PMID:18414213|PMID:25741868|PMID:31064749|PMID:32581362|PMID:34355501|PMID:7633430|PMID:8703016|PMID:9116284 11926137 SEPTIN5 septin 5 gene DOID:9007661 Dwarfism ISO RGD:1350777 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11926165 PDE1A phosphodiesterase 1A gene DOID:630 genetic disease ISO RGD:68458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926165 PDE1A phosphodiesterase 1A gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:68329 D RGD:9068941 20200609 RGD PMID:12834273|REF_RGD_ID:2312523 11926204 BAHCC1 BAH domain and coiled-coil containing 1 gene DOID:630 genetic disease ISO RGD:1606249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926234 TP53INP1 tumor protein p53 inducible nuclear protein 1 gene DOID:14221 abdominal obesity-metabolic syndrome 1 ISO RGD:1332277 D RGD:9068941 20220825 MouseDO OMIM:605552 11926234 TP53INP1 tumor protein p53 inducible nuclear protein 1 gene DOID:630 genetic disease ISO RGD:1349699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926247 SLPI secretory leukocyte peptidase inhibitor gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1350976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 11926247 SLPI secretory leukocyte peptidase inhibitor gene DOID:11612 polycystic ovary syndrome ISO RGD:621768 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:21910062|REF_RGD_ID:9999396 11926247 SLPI secretory leukocyte peptidase inhibitor gene DOID:2234 focal epilepsy ISO RGD:1350976 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11926247 SLPI secretory leukocyte peptidase inhibitor gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1350976 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 11926247 SLPI secretory leukocyte peptidase inhibitor gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:621768 D RGD:9068941 20200609 RGD PMID:18375249|REF_RGD_ID:9999419 11926247 SLPI secretory leukocyte peptidase inhibitor gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:621768 D RGD:9068941 20200609 RGD PMID:14500739|REF_RGD_ID:9999390 11926247 SLPI secretory leukocyte peptidase inhibitor gene DOID:4692 endophthalmitis ISO RGD:621768 D RGD:9068941 20200609 RGD associated with Staphylococcal Infections;protein:increased expression:cornea, retina, vitreous humor PMID:18274645|REF_RGD_ID:9999421 11926247 SLPI secretory leukocyte peptidase inhibitor gene DOID:5844 myocardial infarction treatment ISO RGD:621768 D RGD:9068941 20200609 RGD PMID:23361363|REF_RGD_ID:9999400 11926247 SLPI secretory leukocyte peptidase inhibitor gene DOID:630 genetic disease ISO RGD:1350976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926247 SLPI secretory leukocyte peptidase inhibitor gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1350976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11926247 SLPI secretory leukocyte peptidase inhibitor gene DOID:9000656 Penetrating Wounds ISO RGD:621768 D RGD:9068941 20200609 RGD PMID:22020578|REF_RGD_ID:9999424 11926247 SLPI secretory leukocyte peptidase inhibitor gene DOID:9002159 Liver Reperfusion Injury ISO RGD:621768 D RGD:9068941 20200609 RGD PMID:19595018|REF_RGD_ID:2314952 11926247 SLPI secretory leukocyte peptidase inhibitor gene DOID:9002457 Experimental Arthritis ISO RGD:621768 D RGD:9068941 20200609 RGD protein:decreased expression:articular cartilage of joint PMID:9744360|REF_RGD_ID:9999431 11926247 SLPI secretory leukocyte peptidase inhibitor gene DOID:9002457 Experimental Arthritis treatment ISO RGD:621768 D RGD:9068941 20200609 RGD PMID:10449524|REF_RGD_ID:634208 11926247 SLPI secretory leukocyte peptidase inhibitor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1551752 D RGD:9068941 20200609 RGD PMID:22436018|REF_RGD_ID:9999395 11926247 SLPI secretory leukocyte peptidase inhibitor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:621768 D RGD:9068941 20200609 RGD PMID:22436018|REF_RGD_ID:9999395 11926247 SLPI secretory leukocyte peptidase inhibitor gene DOID:9004009 Reperfusion Injury ISO RGD:1350976 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8215636 11926247 SLPI secretory leukocyte peptidase inhibitor gene DOID:9004610 Acute Lung Injury severity ISO RGD:621768 D RGD:9068941 20200609 RGD PMID:10092827|REF_RGD_ID:9999422 11926247 SLPI secretory leukocyte peptidase inhibitor gene DOID:9004610 Acute Lung Injury treatment ISO RGD:621768 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:25466948|REF_RGD_ID:9999425 11926247 SLPI secretory leukocyte peptidase inhibitor gene DOID:9005930 Endotoxemia ISO RGD:621768 D RGD:9068941 20200609 RGD PMID:25466948|REF_RGD_ID:9999425 11926247 SLPI secretory leukocyte peptidase inhibitor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1350976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17984051 11926247 SLPI secretory leukocyte peptidase inhibitor gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 11926255 PLEKHS1 pleckstrin homology domain containing S1 gene DOID:10603 glucose intolerance ISO RGD:1559884 D RGD:9068941 20200609 RGD associated with obesity; PMID:27523322|REF_RGD_ID:11532750 11926255 PLEKHS1 pleckstrin homology domain containing S1 gene DOID:14566 disease of cellular proliferation ISO RGD:1344870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25261935 11926255 PLEKHS1 pleckstrin homology domain containing S1 gene DOID:630 genetic disease ISO RGD:1344870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926255 PLEKHS1 pleckstrin homology domain containing S1 gene DOID:9007692 Insulin Resistance ISO RGD:1559884 D RGD:9068941 20200609 RGD associated with obesity; PMID:27523322|REF_RGD_ID:11532750 11926277 IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha gene DOID:0112147 retinitis pigmentosa 90 ISO RGD:733177 D RGD:7240710 20200930 OMIM 11926277 IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha gene DOID:0112147 retinitis pigmentosa 90 ISO RGD:733177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 90 PMID:25741868|PMID:28058510|PMID:28412069|PMID:28492532|PMID:30058936|PMID:31012789|PMID:31456290 11926277 IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha gene DOID:10584 retinitis pigmentosa ISO RGD:733177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28058510|PMID:28412069|PMID:28492532|PMID:31456290 11926277 IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha gene DOID:2717 Bloom syndrome ISO RGD:733177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11926277 IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha gene DOID:630 genetic disease ISO RGD:733177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11926277 IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha gene DOID:8398 osteoarthritis ISO RGD:733177 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11926277 IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha gene DOID:9256 colorectal cancer ISO RGD:733177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11926292 PEPD peptidase D gene DOID:0050117 disease by infectious agent ISO RGD:1354493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16470701 11926292 PEPD peptidase D gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1354493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11926292 PEPD peptidase D gene DOID:0111540 prolidase deficiency ISO RGD:1354493 D RGD:7240710 20180130 OMIM 11926292 PEPD peptidase D gene DOID:0111540 prolidase deficiency ISO RGD:1354493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Prolidase deficiency PMID:10721675|PMID:12384772|PMID:15309682|PMID:16199547|PMID:16470701|PMID:1688567|PMID:17142620|PMID:17576681|PMID:19308961|PMID:1972707|PMID:2010534|PMID:23516557|PMID:2365824|PMID:24033266|PMID:25460580|PMID:25741868|PMID:27067078|PMID:28062424|PMID:28492532|PMID:29943458|PMID:33877262|PMID:6637477|PMID:8198124|PMID:8900231|PMID:9536098 11926292 PEPD peptidase D gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:11075 D RGD:9068941 20220825 MouseDO 11926292 PEPD peptidase D gene DOID:1579 respiratory system disease ISO RGD:1354493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16470701 11926292 PEPD peptidase D gene DOID:630 genetic disease ISO RGD:1354493 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11926292 PEPD peptidase D gene DOID:8549 chronic ulcer of skin ISO RGD:1354493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16470701 11926292 PEPD peptidase D gene DOID:9002720 Splenomegaly ISO RGD:1354493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16470701 11926292 PEPD peptidase D gene DOID:9005292 Organophosphate Poisoning ISO RGD:1354493 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22982776 11926292 PEPD peptidase D gene DOID:9005369 Hepatomegaly ISO RGD:1354493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16470701 11926292 PEPD peptidase D gene DOID:9008086 Developmental Disabilities ISO RGD:1354493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:28492532 11926292 PEPD peptidase D gene DOID:9352 type 2 diabetes mellitus ISO RGD:1354493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22158537 11926314 RBBP8NL RBBP8 N-terminal like gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1353930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11926314 RBBP8NL RBBP8 N-terminal like gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1353930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11926314 RBBP8NL RBBP8 N-terminal like gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1353930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11926314 RBBP8NL RBBP8 N-terminal like gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1353930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 11926314 RBBP8NL RBBP8 N-terminal like gene DOID:630 genetic disease ISO RGD:1353930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926332 SNX32 sorting nexin 32 gene DOID:0080600 COVID-19 ISO RGD:1605258 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11926332 SNX32 sorting nexin 32 gene DOID:1059 intellectual disability ISO RGD:1605258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11926332 SNX32 sorting nexin 32 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11926332 SNX32 sorting nexin 32 gene DOID:2746 glycogen storage disease V ISO RGD:1605258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11926332 SNX32 sorting nexin 32 gene DOID:630 genetic disease ISO RGD:1605258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926332 SNX32 sorting nexin 32 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1605258 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11926332 SNX32 sorting nexin 32 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1605258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 11926332 SNX32 sorting nexin 32 gene DOID:9008939 Breast Neoplasms ISO RGD:1605258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 11926356 TNIP3 TNFAIP3 interacting protein 3 gene DOID:630 genetic disease ISO RGD:1346864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926356 TNIP3 TNFAIP3 interacting protein 3 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1346864 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 11926356 TNIP3 TNFAIP3 interacting protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11926381 SNX19 sorting nexin 19 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1604682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11926381 SNX19 sorting nexin 19 gene DOID:5419 schizophrenia ISO RGD:1604682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11926381 SNX19 sorting nexin 19 gene DOID:630 genetic disease ISO RGD:1604682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926381 SNX19 sorting nexin 19 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11926381 SNX19 sorting nexin 19 gene DOID:9007661 Dwarfism ISO RGD:1604682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11926399 PROKR1 prokineticin receptor 1 gene DOID:10487 Hirschsprung's disease ISO RGD:733659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 11926399 PROKR1 prokineticin receptor 1 gene DOID:2843 long QT syndrome ISO RGD:733659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11926399 PROKR1 prokineticin receptor 1 gene DOID:630 genetic disease ISO RGD:733659 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11926399 PROKR1 prokineticin receptor 1 gene DOID:9000641 Pain ISO RGD:733659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16793879 11926399 PROKR1 prokineticin receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:733659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16793879 11926409 AGMAT agmatinase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1318183 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11926409 AGMAT agmatinase gene DOID:630 genetic disease ISO RGD:1318183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926409 AGMAT agmatinase gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1318183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23721890|PMID:28492532 11926420 SH3YL1 SH3 and SYLF domain containing 1 gene DOID:630 genetic disease ISO RGD:1315058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926493 PDE1B phosphodiesterase 1B gene DOID:0080855 Parkinsonism ISO RGD:3278 D RGD:9068941 20200609 RGD PMID:15305867|REF_RGD_ID:2312524 11926493 PDE1B phosphodiesterase 1B gene DOID:630 genetic disease ISO RGD:735556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926493 PDE1B phosphodiesterase 1B gene DOID:8927 learning disability ISO RGD:735556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12077213 11926529 KRT222 keratin 222 gene DOID:630 genetic disease ISO RGD:1606170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926577 KATNAL1 katanin catalytic subunit A1 like 1 gene DOID:630 genetic disease ISO RGD:1346255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926598 MSANTD2 Myb/SANT DNA binding domain containing 2 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1606219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11926598 MSANTD2 Myb/SANT DNA binding domain containing 2 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1606219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11926598 MSANTD2 Myb/SANT DNA binding domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1606219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11926598 MSANTD2 Myb/SANT DNA binding domain containing 2 gene DOID:630 genetic disease ISO RGD:1606219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926598 MSANTD2 Myb/SANT DNA binding domain containing 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11926598 MSANTD2 Myb/SANT DNA binding domain containing 2 gene DOID:9007661 Dwarfism ISO RGD:1606219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11926612 HSBP1 heat shock factor binding protein 1 gene DOID:630 genetic disease ISO RGD:736685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926619 LOC100974647 core histone macro-H2A.2 gene DOID:630 genetic disease ISO RGD:1347144 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926631 LOC100980386 zinc finger protein with KRAB and SCAN domains 8-like gene DOID:11372 megacolon ISO RGD:1319074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11926631 LOC100980386 zinc finger protein with KRAB and SCAN domains 8-like gene DOID:630 genetic disease ISO RGD:1319074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926657 CMC1 C-X9-C motif containing 1 gene DOID:630 genetic disease ISO RGD:1606956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926665 C4H4orf33 chromosome 4 C4orf33 homolog gene DOID:630 genetic disease ISO RGD:1601935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926700 CEP19 centrosomal protein 19 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1602846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 11926700 CEP19 centrosomal protein 19 gene DOID:12849 autistic disorder ISO RGD:1602846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11926700 CEP19 centrosomal protein 19 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:29127258 11926700 CEP19 centrosomal protein 19 gene DOID:5419 schizophrenia ISO RGD:1602846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11926700 CEP19 centrosomal protein 19 gene DOID:630 genetic disease ISO RGD:1602846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11926700 CEP19 centrosomal protein 19 gene DOID:9004698 Morbid Obesity and Spermatogenic Failure ISO RGD:1602846 D RGD:7240710 20180130 OMIM 11926700 CEP19 centrosomal protein 19 gene DOID:9004698 Morbid Obesity and Spermatogenic Failure ISO RGD:1602846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Morbid obesity and spermatogenic failure PMID:24268657|PMID:25741868|PMID:28492532 11926725 INO80D INO80 complex subunit D gene DOID:11372 megacolon ISO RGD:1606537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11926725 INO80D INO80 complex subunit D gene DOID:14557 primary pulmonary hypertension ISO RGD:1606537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11926725 INO80D INO80 complex subunit D gene DOID:630 genetic disease ISO RGD:1606537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926725 INO80D INO80 complex subunit D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11926743 FOXL2 forkhead box L2 gene DOID:0080860 primary ovarian insufficiency 3 ISO RGD:1320713 D RGD:7240710 20200611 OMIM 11926743 FOXL2 forkhead box L2 gene DOID:0080860 primary ovarian insufficiency 3 ISO RGD:1320713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 3 PMID:12149404|PMID:12161610|PMID:19429596|PMID:25741868|PMID:29378385 11926743 FOXL2 forkhead box L2 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1320713 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:24728327 11926743 FOXL2 forkhead box L2 gene DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome ISO RGD:1320713 D RGD:7240710 20200611 OMIM 11926743 FOXL2 forkhead box L2 gene DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome ISO RGD:1320713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome PMID:11175783|PMID:11468277|PMID:11776388|PMID:12149404|PMID:12161610|PMID:12400065|PMID:12529855|PMID:12630957|PMID:12938087|PMID:16283882|PMID:17277738|PMID:18372316|PMID:18484667|PMID:18635577|PMID:18642388|PMID:19010791|PMID:19429596|PMID:19515849|PMID:22159675|PMID:22312189|PMID:23441113|PMID:25741868|PMID:27914838|PMID:28492532|PMID:28849110|PMID:31048069|PMID:31077882|PMID:33796131 11926743 FOXL2 forkhead box L2 gene DOID:2876 laryngeal squamous cell carcinoma exacerbates ISO RGD:1320713 D RGD:9068941 20220414 RGD mRNA:increased expression:larynx (human) PMID:32517588|REF_RGD_ID:151667913 11926743 FOXL2 forkhead box L2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1320713 D RGD:9068941 20220414 RGD DNA:hypermethylation: (human) PMID:23599765|REF_RGD_ID:13503323 11926743 FOXL2 forkhead box L2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1320713 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 11926743 FOXL2 forkhead box L2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1320713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24728327 11926743 FOXL2 forkhead box L2 gene DOID:630 genetic disease ISO RGD:1320713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926743 FOXL2 forkhead box L2 gene DOID:9000058 Keloid ISO RGD:1320713 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:20711176 11926743 FOXL2 forkhead box L2 gene DOID:9003489 Blepharophimosis Syndrome Type 1 ISO RGD:1320713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I PMID:11175783|PMID:11468277|PMID:11776388|PMID:12400065|PMID:12529855|PMID:12567411|PMID:12630957|PMID:12938087|PMID:16219626|PMID:17089161|PMID:18372316|PMID:25741868|PMID:28492532|PMID:28849110|PMID:31048069 11926743 FOXL2 forkhead box L2 gene DOID:9007148 Blepharophimosis Syndrome Type 2 ISO RGD:1320713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus without premature ovarian failure PMID:11175783|PMID:11468277|PMID:11776388|PMID:12400065|PMID:12529855|PMID:12630957|PMID:12938087|PMID:16283882|PMID:17277738|PMID:18372316|PMID:18484667|PMID:21325395|PMID:25741868|PMID:28492532 11926743 FOXL2 forkhead box L2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1320713 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 11926743 FOXL2 forkhead box L2 gene DOID:9009129 Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 1 ISO RGD:1320713 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 PMID:25741868 11926766 FLVCR1 FLVCR heme transporter 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1606303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:27666822 11926766 FLVCR1 FLVCR heme transporter 1 gene DOID:0050817 Stargardt disease ISO RGD:1606303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:30718709 11926766 FLVCR1 FLVCR heme transporter 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1606303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868 11926766 FLVCR1 FLVCR heme transporter 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1618983 D RGD:9068941 20220825 MouseDO OMIM:105650 | OMIM:606129 | OMIM:610629 | OMIM:612527 | OMIM:612528 | OMIM:612561 | OMIM:612562 | OMIM:612563 | OMIM:613308 | OMIM:613309 | OMIM:614900 | OMIM:615550 | OMIM:615909 11926766 FLVCR1 FLVCR heme transporter 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11926766 FLVCR1 FLVCR heme transporter 1 gene DOID:2491 sensory peripheral neuropathy ISO RGD:1606303 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sensory neuropathy PMID:25741868 11926766 FLVCR1 FLVCR heme transporter 1 gene DOID:630 genetic disease ISO RGD:1606303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21070897|PMID:21267618|PMID:22279524|PMID:22483575|PMID:24628582|PMID:25741868|PMID:26467025|PMID:27923065|PMID:28492532|PMID:28559085|PMID:30656474|PMID:31408049|PMID:32822874|PMID:9409377 11926766 FLVCR1 FLVCR heme transporter 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1606303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11926766 FLVCR1 FLVCR heme transporter 1 gene DOID:8501 fundus dystrophy ISO RGD:1606303 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17576681|PMID:23591405|PMID:25741868|PMID:26467025|PMID:27353947|PMID:28492532|PMID:28766925|PMID:29192808|PMID:30356807|PMID:30656474|PMID:31884612|PMID:31963381|PMID:32037395|PMID:32531858|PMID:32984570|PMID:9536098 11926766 FLVCR1 FLVCR heme transporter 1 gene DOID:9008679 Posterior Column Ataxia with Retinitis Pigmentosa ISO RGD:1606303 D RGD:7240710 20180130 OMIM 11926766 FLVCR1 FLVCR heme transporter 1 gene DOID:9008679 Posterior Column Ataxia with Retinitis Pigmentosa ISO RGD:1606303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Posterior column ataxia with retinitis pigmentosa PMID:17576681|PMID:21070897|PMID:21267618|PMID:22279524|PMID:22483575|PMID:23591405|PMID:24628582|PMID:25741868|PMID:26467025|PMID:27353947|PMID:27923065|PMID:28492532|PMID:28559085|PMID:28766925|PMID:29192808|PMID:30356807|PMID:30444160|PMID:30656474|PMID:31408049|PMID:31884612|PMID:31963381|PMID:32037395|PMID:32531858|PMID:32822874|PMID:32984570|PMID:9409377|PMID:9536098|PMID:9855554 11926766 FLVCR1 FLVCR heme transporter 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11926783 RSPH4A radial spoke head component 4A gene DOID:0050144 Kartagener syndrome ISO RGD:1348763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:17576681|PMID:23798057|PMID:24824133|PMID:25741868|PMID:28492532|PMID:9536098 11926783 RSPH4A radial spoke head component 4A gene DOID:0060041 autism spectrum disorder ISO RGD:1348763 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11926783 RSPH4A radial spoke head component 4A gene DOID:0060163 body dysmorphic disorder ISO RGD:1348763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 11926783 RSPH4A radial spoke head component 4A gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1348763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 11926783 RSPH4A radial spoke head component 4A gene DOID:0110602 primary ciliary dyskinesia 11 ISO RGD:1348763 D RGD:7240710 20180130 OMIM 11926783 RSPH4A radial spoke head component 4A gene DOID:0110602 primary ciliary dyskinesia 11 ISO RGD:1348763 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 11 PMID:16199547|PMID:17576681|PMID:19200523|PMID:20301301|PMID:22448264|PMID:23798057|PMID:23993197|PMID:24033266|PMID:25741868|PMID:25789548|PMID:28492532|PMID:32253119|PMID:34768622|PMID:9536098 11926783 RSPH4A radial spoke head component 4A gene DOID:1059 intellectual disability ISO RGD:1348763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 11926783 RSPH4A radial spoke head component 4A gene DOID:10907 microcephaly ISO RGD:1348763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 11926783 RSPH4A radial spoke head component 4A gene DOID:1826 epilepsy ISO RGD:1348763 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11926783 RSPH4A radial spoke head component 4A gene DOID:630 genetic disease ISO RGD:1348763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11926783 RSPH4A radial spoke head component 4A gene DOID:9000495 Tremor ISO RGD:1348763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 11926783 RSPH4A radial spoke head component 4A gene DOID:9562 primary ciliary dyskinesia ISO RGD:1348763 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:19200523|PMID:20301301|PMID:22448264|PMID:23798057|PMID:23993197|PMID:24033266|PMID:25741868|PMID:25789548|PMID:27637300|PMID:27848944|PMID:28492532|PMID:32253119|PMID:34768622|PMID:9536098 11926794 KLRF2 killer cell lectin like receptor F2 gene DOID:630 genetic disease ISO RGD:4105863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926803 TIMELESS timeless circadian regulator gene DOID:630 genetic disease ISO RGD:731567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926803 TIMELESS timeless circadian regulator gene DOID:9004338 Advanced Sleep Phase Syndrome 4, Familial ISO RGD:731567 D RGD:7240710 20220831 OMIM 11926844 CD160 CD160 molecule gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1342532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 11926844 CD160 CD160 molecule gene DOID:1540 parathyroid carcinoma ISO RGD:1342532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11926844 CD160 CD160 molecule gene DOID:5419 schizophrenia ISO RGD:1342532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11926844 CD160 CD160 molecule gene DOID:630 genetic disease ISO RGD:1342532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926844 CD160 CD160 molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1342532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11926867 SLC2A8 solute carrier family 2 member 8 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:730862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11926867 SLC2A8 solute carrier family 2 member 8 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:730862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11926867 SLC2A8 solute carrier family 2 member 8 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:730862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11926867 SLC2A8 solute carrier family 2 member 8 gene DOID:630 genetic disease ISO RGD:730862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926887 TIGD6 tigger transposable element derived 6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343289 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11926887 TIGD6 tigger transposable element derived 6 gene DOID:630 genetic disease ISO RGD:1343289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926887 TIGD6 tigger transposable element derived 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11926887 TIGD6 tigger transposable element derived 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343289 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11926902 PTGIR prostaglandin I2 receptor gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1322052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 11926902 PTGIR prostaglandin I2 receptor gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1322052 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 11926902 PTGIR prostaglandin I2 receptor gene DOID:0110644 long QT syndrome 1 ISO RGD:1322052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:28492532 11926902 PTGIR prostaglandin I2 receptor gene DOID:114 heart disease ISO RGD:1322052 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16154102 11926902 PTGIR prostaglandin I2 receptor gene DOID:630 genetic disease ISO RGD:1322052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926909 ORC4 origin recognition complex subunit 4 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1343496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21358631|PMID:21358632 11926909 ORC4 origin recognition complex subunit 4 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1343496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:19809484|PMID:19904302|PMID:21981781|PMID:23422940|PMID:23587880|PMID:23632792|PMID:24885232|PMID:28492532 11926909 ORC4 origin recognition complex subunit 4 gene DOID:0080513 Meier-Gorlin syndrome 2 ISO RGD:1343496 D RGD:7240710 20190424 OMIM 11926909 ORC4 origin recognition complex subunit 4 gene DOID:0080513 Meier-Gorlin syndrome 2 ISO RGD:1343496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 2 PMID:11477602|PMID:18414213|PMID:21358631|PMID:21358632|PMID:22333897|PMID:24033266|PMID:25741868|PMID:28492532|PMID:34008892 11926909 ORC4 origin recognition complex subunit 4 gene DOID:5419 schizophrenia ISO RGD:1343496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11926909 ORC4 origin recognition complex subunit 4 gene DOID:630 genetic disease ISO RGD:1343496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11926938 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:732576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:28492532 11926938 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0050451 Brugada syndrome ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:20817017|PMID:22090166|PMID:22840528|PMID:23414114|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24752249|PMID:25467552|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26636822|PMID:26707467|PMID:27650965|PMID:27711072|PMID:28492532|PMID:30027834 11926938 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0050700 cardiomyopathy ISO RGD:732576 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:20817017|PMID:23414114|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24752249|PMID:25467552|PMID:25637381|PMID:25741868|PMID:27711072|PMID:28492532 11926938 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0050793 short QT syndrome ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short QT Syndrome 5 PMID:25741868|PMID:28492532 11926938 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0060041 autism spectrum disorder ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder 11926938 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0060319 cardiac arrest ISO RGD:732576 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:17576681|PMID:25741868|PMID:28492532|PMID:28600387|PMID:9536098 11926938 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11926938 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0110221 Brugada syndrome 4 ISO RGD:732576 D RGD:7240710 20180130 OMIM 11926938 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0110221 Brugada syndrome 4 ISO RGD:732576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome 4 PMID:17224476|PMID:17576681|PMID:19358333|PMID:20817017|PMID:22090166|PMID:22840528|PMID:23414114|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24752249|PMID:25467552|PMID:25637381|PMID:25741868|PMID:26220970|PMID:26230511|PMID:26636822|PMID:26707467|PMID:27650965|PMID:27662471|PMID:27711072|PMID:28341588|PMID:28492532|PMID:28600387|PMID:28704380|PMID:29016939|PMID:30027834|PMID:30415094|PMID:30847666|PMID:30975432|PMID:9536098 11926938 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:10273 heart conduction disease ISO RGD:732576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conduction system disorder 11926938 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:10763 hypertension susceptibility ISO RGD:732576 D RGD:9068941 20200609 RGD DNA:SNP: :rs4373814(human) PMID:24338417|REF_RGD_ID:13513987 11926938 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 11926938 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:11984 hypertrophic cardiomyopathy severity ISO RGD:732576 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:c.1598C>T (p.S533L)(human) PMID:28614222|REF_RGD_ID:13513985 11926938 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 11926938 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:2843 long QT syndrome ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 11926938 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:630 genetic disease ISO RGD:732576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11926938 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9000006 Supraventricular Tachycardia ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Supraventricular tachycardia PMID:23861362|PMID:25741868|PMID:28492532 11926938 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23861362|PMID:28492532 11926938 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early repolarization associated with ventricular fibrillation | ClinVar Annotator: match by term: Ventricular fibrillation PMID:20817017|PMID:22840528|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:26707467|PMID:27650965|PMID:28492532|PMID:30027834 11926938 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:20817017|PMID:22090166|PMID:22840528|PMID:23414114|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24752249|PMID:25467552|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26636822|PMID:26707467|PMID:27650965|PMID:27711072|PMID:28492532|PMID:30027834 11926938 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9003740 Nerve Injuries ISO RGD:67385 D RGD:9068941 20200609 RGD mRNA:decreased expression:dorsal root ganglion,spindal cord: PMID:22187436|REF_RGD_ID:13514092 11926938 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9004416 Paroxysmal Ventricular Fibrillation ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal familial ventricular fibrillation PMID:20817017|PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 11926938 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:20817017|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26636822|PMID:27711072|PMID:28492532 11926938 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532 11926938 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9007820 Sudden Death ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:20817017|PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 11926971 MITD1 microtubule interacting and trafficking domain containing 1 gene DOID:630 genetic disease ISO RGD:1602187 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25326635|PMID:25741868|PMID:31042466|PMID:35388219 11926971 MITD1 microtubule interacting and trafficking domain containing 1 gene DOID:9001276 Failure to Thrive ISO RGD:1602187 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:27247813|PMID:28492532|PMID:33531667 11926971 MITD1 microtubule interacting and trafficking domain containing 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1602187 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:25741868|PMID:27247813|PMID:28492532|PMID:33531667 11926971 MITD1 microtubule interacting and trafficking domain containing 1 gene DOID:9004538 Hearing Loss ISO RGD:1602187 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:27247813|PMID:28492532|PMID:33531667 11926971 MITD1 microtubule interacting and trafficking domain containing 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1602187 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:25741868|PMID:27247813|PMID:28492532|PMID:33531667 11926971 MITD1 microtubule interacting and trafficking domain containing 1 gene DOID:9008121 Lipoyltransferase 1 Deficiency ISO RGD:1602187 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency PMID:17570395|PMID:24256811|PMID:24341803|PMID:25326635|PMID:25741868|PMID:25787132|PMID:27247813|PMID:28492532|PMID:31042466|PMID:33531667|PMID:34440436|PMID:35388219 11926986 LCN8 lipocalin 8 gene DOID:0050777 Joubert syndrome ISO RGD:1343207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11926986 LCN8 lipocalin 8 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1343207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11926986 LCN8 lipocalin 8 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1343207 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11926986 LCN8 lipocalin 8 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1343207 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11926986 LCN8 lipocalin 8 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1343207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11926986 LCN8 lipocalin 8 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1343207 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11926986 LCN8 lipocalin 8 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1343207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 11926986 LCN8 lipocalin 8 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1343207 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11926986 LCN8 lipocalin 8 gene DOID:0081097 Rafiq syndrome ISO RGD:1343207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11926986 LCN8 lipocalin 8 gene DOID:3652 Leigh disease ISO RGD:1343207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11926986 LCN8 lipocalin 8 gene DOID:630 genetic disease ISO RGD:1343207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11926986 LCN8 lipocalin 8 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1343207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11927011 EHD2 EH domain containing 2 gene DOID:630 genetic disease ISO RGD:1348695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927021 UGT3A2 UDP glycosyltransferase family 3 member A2 gene DOID:630 genetic disease ISO RGD:1604978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927021 UGT3A2 UDP glycosyltransferase family 3 member A2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11927065 BHLHE41 basic helix-loop-helix family member e41 gene DOID:0050866 oral squamous cell carcinoma treatment ISO RGD:731061 D RGD:9068941 20220317 RGD Human cells in mouse model PMID:27602964|REF_RGD_ID:151665310 11927065 BHLHE41 basic helix-loop-helix family member e41 gene DOID:3910 lung adenocarcinoma ISO RGD:731061 D RGD:9068941 20220317 RGD mRNA:decreased expression:lung (human) PMID:18223678|REF_RGD_ID:151665316 11927065 BHLHE41 basic helix-loop-helix family member e41 gene DOID:5041 esophageal cancer ISO RGD:731061 D RGD:9068941 20220317 RGD protein:increased expression:esophagus(human) PMID:29890466|REF_RGD_ID:151665308 11927065 BHLHE41 basic helix-loop-helix family member e41 gene DOID:535 sleep disorder ISO RGD:731061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11927065 BHLHE41 basic helix-loop-helix family member e41 gene DOID:630 genetic disease ISO RGD:731061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927065 BHLHE41 basic helix-loop-helix family member e41 gene DOID:9005172 Lung Neoplasms ISO RGD:731061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 11927065 BHLHE41 basic helix-loop-helix family member e41 gene DOID:9007173 Familial Natural Short Sleep 1 ISO RGD:731061 D RGD:7240710 20191225 OMIM 11927065 BHLHE41 basic helix-loop-helix family member e41 gene DOID:9007173 Familial Natural Short Sleep 1 ISO RGD:731061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short sleep, familial natural, 1 PMID:19679812|PMID:25083013 11927075 NECAP2 NECAP endocytosis associated 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603996 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11927075 NECAP2 NECAP endocytosis associated 2 gene DOID:10283 prostate cancer ISO RGD:1603996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11927075 NECAP2 NECAP endocytosis associated 2 gene DOID:630 genetic disease ISO RGD:1603996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927090 CTDSPL2 CTD small phosphatase like 2 gene DOID:2717 Bloom syndrome ISO RGD:1605073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11927090 CTDSPL2 CTD small phosphatase like 2 gene DOID:630 genetic disease ISO RGD:1605073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927090 CTDSPL2 CTD small phosphatase like 2 gene DOID:9256 colorectal cancer ISO RGD:1605073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11927115 INO80 INO80 complex ATPase subunit gene DOID:1826 epilepsy ISO RGD:1607029 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25558065 11927115 INO80 INO80 complex ATPase subunit gene DOID:2717 Bloom syndrome ISO RGD:1607029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11927115 INO80 INO80 complex ATPase subunit gene DOID:630 genetic disease ISO RGD:1607029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927115 INO80 INO80 complex ATPase subunit gene DOID:9256 colorectal cancer ISO RGD:1607029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11927155 RAG2 recombination activating 2 gene DOID:0060010 Omenn syndrome ISO RGD:1313706 D RGD:7240710 20180130 OMIM 11927155 RAG2 recombination activating 2 gene DOID:0060012 recombinase activating gene 2 deficiency ISO RGD:1313706 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Recombinase activating gene 2 deficiency PMID:20234091|PMID:25741868|PMID:28492532|PMID:29772310 11927155 RAG2 recombination activating 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1313706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24211274 11927155 RAG2 recombination activating 2 gene DOID:0080915 histiocytic sarcoma ISO RGD:1313706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Histiocytic medullary reticulosis PMID:10777560|PMID:10891502|PMID:11133745|PMID:11138625|PMID:11313270|PMID:12200379|PMID:15025726|PMID:16960852|PMID:17572155|PMID:18025461|PMID:18033247|PMID:18682256|PMID:19178939|PMID:19333736|PMID:19414857|PMID:19470080|PMID:19912631|PMID:20234091|PMID:20603253|PMID:21131235|PMID:21502542|PMID:21624848|PMID:21625022|PMID:22295088|PMID:22841008|PMID:23243423|PMID:23994475|PMID:24139496|PMID:24144642|PMID:24481607|PMID:25109802|PMID:25333069|PMID:25707801|PMID:25741868|PMID:25869295|PMID:26186701|PMID:26457731|PMID:26476733|PMID:26515615|PMID:26692406|PMID:26915675|PMID:28492532|PMID:28600779|PMID:28747913|PMID:28769923|PMID:29772310|PMID:30305145|PMID:30307608|PMID:30778343|PMID:8810255|PMID:9630231 11927155 RAG2 recombination activating 2 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1313706 D RGD:7240710 20180130 OMIM 11927155 RAG2 recombination activating 2 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1313706 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive PMID:10777560|PMID:10891502|PMID:11133745|PMID:11313270|PMID:15025726|PMID:16960852|PMID:17572155|PMID:19178939|PMID:19414857|PMID:20234091|PMID:21502542|PMID:21624848|PMID:22295088|PMID:23994475|PMID:24139496|PMID:24144642|PMID:24174341|PMID:25741868|PMID:25869295|PMID:26457731|PMID:26692406|PMID:27730413|PMID:28492532|PMID:28747913|PMID:28769923|PMID:29051008|PMID:29772310|PMID:30307608|PMID:30778343|PMID:31388879|PMID:32445296|PMID:32655540|PMID:8810255 11927155 RAG2 recombination activating 2 gene DOID:0112253 combined cellular and humoral immune defects with granulomas ISO RGD:1313706 D RGD:7240710 20180130 OMIM 11927155 RAG2 recombination activating 2 gene DOID:0112253 combined cellular and humoral immune defects with granulomas ISO RGD:1313706 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas PMID:10777560|PMID:10891502|PMID:11133745|PMID:11138625|PMID:11313270|PMID:12200379|PMID:15025726|PMID:16960852|PMID:17572155|PMID:18025461|PMID:18033247|PMID:18463379|PMID:18682256|PMID:19178939|PMID:19333736|PMID:19414857|PMID:19763152|PMID:20234091|PMID:20307669|PMID:20603253|PMID:21131235|PMID:21184155|PMID:21502542|PMID:21624848|PMID:21625022|PMID:21664875|PMID:22295088|PMID:22406018|PMID:22841008|PMID:23243423|PMID:23994475|PMID:24139496|PMID:24144642|PMID:24174341|PMID:24290284|PMID:24331380|PMID:24481607|PMID:24996264|PMID:25109802|PMID:25333069|PMID:25707801|PMID:25739914|PMID:25741868|PMID:25842288|PMID:25869295|PMID:2618670|PMID:26186701|PMID:26457731|PMID:26476733|PMID:26515615|PMID:26692406|PMID:26915675|PMID:26996199|PMID:28492532|PMID:28600779|PMID:28747913|PMID:28769923|PMID:29051008|PMID:29658452|PMID:29772310|PMID:30305145|PMID:30307608|PMID:30778343|PMID:31031743|PMID:31058115|PMID:31334206|PMID:31388879|PMID:31838659|PMID:32445296|PMID:32531373|PMID:32581362|PMID:32655540|PMID:32888943|PMID:33505738|PMID:33628209|PMID:8810255|PMID:9630231 11927155 RAG2 recombination activating 2 gene DOID:1059 intellectual disability ISO RGD:1313706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11927155 RAG2 recombination activating 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1313706 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:18463379|PMID:21664875|PMID:24331380|PMID:24996264|PMID:25741868|PMID:26457731|PMID:26996199|PMID:28492532|PMID:29772310|PMID:31334206|PMID:31388879|PMID:32581362|PMID:32655540 11927155 RAG2 recombination activating 2 gene DOID:627 severe combined immunodeficiency ISO RGD:1313706 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:15025726|PMID:18463379|PMID:20603253|PMID:21131235|PMID:21664875|PMID:24174341|PMID:24331380|PMID:24481607|PMID:24996264|PMID:25109802|PMID:25333069|PMID:25741868|PMID:26457731|PMID:26476733|PMID:26515615|PMID:26996199|PMID:28492532|PMID:28747913|PMID:28769923|PMID:29051008|PMID:29772310|PMID:30307608|PMID:30778343|PMID:31334206|PMID:31388879|PMID:32581362|PMID:32655540 11927155 RAG2 recombination activating 2 gene DOID:630 genetic disease ISO RGD:1313706 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:33628209 11927155 RAG2 recombination activating 2 gene DOID:9000156 Metaplasia ISO RGD:1313706 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27315767 11927155 RAG2 recombination activating 2 gene DOID:9000795 Immunodeficiency 104 ISO RGD:1313706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 104 PMID:20603253|PMID:21131235|PMID:24481607|PMID:25741868|PMID:26476733|PMID:26515615|PMID:28492532|PMID:29772310 11927155 RAG2 recombination activating 2 gene DOID:9001371 Eosinophilia ISO RGD:1313706 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27315767 11927155 RAG2 recombination activating 2 gene DOID:9002457 Experimental Arthritis ISO RGD:1313706 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20974942 11927165 LANCL3 LanC like family member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11927165 LANCL3 LanC like family member 3 gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1349608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 11927165 LANCL3 LanC like family member 3 gene DOID:12849 autistic disorder ISO RGD:1349608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11927165 LANCL3 LanC like family member 3 gene DOID:630 genetic disease ISO RGD:1349608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927165 LANCL3 LanC like family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11927165 LANCL3 LanC like family member 3 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1349608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 11927177 PTPRF protein tyrosine phosphatase receptor type F gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:734202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11927177 PTPRF protein tyrosine phosphatase receptor type F gene DOID:1790 malignant mesothelioma ISO RGD:734202 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 11927177 PTPRF protein tyrosine phosphatase receptor type F gene DOID:2018 hyperinsulinism ISO RGD:734202 D RGD:9068941 20200609 RGD protein:increased expression::mouse model overexpressing human transgene, fasting plasma insulin increased 2.5-fold, glucose disposal and uptake into muscle reduced PMID:11309481|REF_RGD_ID:1642735 11927177 PTPRF protein tyrosine phosphatase receptor type F gene DOID:6000 congestive heart failure ISO RGD:734202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28751527 11927177 PTPRF protein tyrosine phosphatase receptor type F gene DOID:630 genetic disease ISO RGD:734202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927177 PTPRF protein tyrosine phosphatase receptor type F gene DOID:9000217 Stomach Neoplasms ISO RGD:734202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11927177 PTPRF protein tyrosine phosphatase receptor type F gene DOID:9000918 Disease Progression ISO RGD:734202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11927177 PTPRF protein tyrosine phosphatase receptor type F gene DOID:9001437 Aplasia or Hypoplasia of Breasts and/or Nipples 2 ISO RGD:734202 D RGD:7240710 20180130 OMIM 11927177 PTPRF protein tyrosine phosphatase receptor type F gene DOID:9001437 Aplasia or Hypoplasia of Breasts and/or Nipples 2 ISO RGD:734202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breasts and/or nipples, aplasia or hypoplasia of, 2 11927177 PTPRF protein tyrosine phosphatase receptor type F gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:734202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28751527 11927177 PTPRF protein tyrosine phosphatase receptor type F gene DOID:9007692 Insulin Resistance ISO RGD:734202 D RGD:9068941 20200609 RGD protein:increased activity, increased expression:skeletal muscle:activity increased to 140-170% of control in insulin-resistant obese (BMI>30) nondiabetic subjects (p<0.05); activity decreased to 39% in obese NIDDM subjects (p<0.05) PMID:9218523|REF_RGD_ID:1642733 11927177 PTPRF protein tyrosine phosphatase receptor type F gene DOID:9007692 Insulin Resistance ISO RGD:734202 D RGD:9068941 20200609 RGD protein:increased expression::mouse model overexpressing human transgene, fasting plasma insulin increased 2.5-fold, glucose disposal and uptake into muscle reduced PMID:11309481|REF_RGD_ID:1642735 11927177 PTPRF protein tyrosine phosphatase receptor type F gene DOID:9970 obesity ISO RGD:3453 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle:increased 42% in insulin-resistant obese (fa/fa) and 50% in diabetic (ZDF/Drt-fa/fa) Zucker rats (P<0.05) PMID:7666792|REF_RGD_ID:1642732 11927177 PTPRF protein tyrosine phosphatase receptor type F gene DOID:9970 obesity ISO RGD:734202 D RGD:9068941 20200609 RGD protein:increased activity, increased expression:skeletal muscle:activity increased to 140-170% of control in insulin-resistant obese (BMI>30) nondiabetic subjects (p<0.05); activity decreased to 39% in obese NIDDM subjects (p<0.05) PMID:9218523|REF_RGD_ID:1642733 11927177 PTPRF protein tyrosine phosphatase receptor type F gene DOID:9970 obesity ISO RGD:734202 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:subcutaneous adipose tissue:2.03-fold higher activity in obese than lean individuals (P < 0.001) PMID:7769120|REF_RGD_ID:1642727 11927225 CA4 carbonic anhydrase 4 gene DOID:0050777 Joubert syndrome ISO RGD:1353429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11927225 CA4 carbonic anhydrase 4 gene DOID:0110404 retinitis pigmentosa 17 ISO RGD:1353429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 17 PMID:15090652|PMID:15295099|PMID:15563508|PMID:17652713|PMID:19211803|PMID:20238024|PMID:20450258|PMID:20626030|PMID:25741868|PMID:28492532|PMID:33022222|PMID:7581389|PMID:9385361 11927225 CA4 carbonic anhydrase 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1353429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15090652|PMID:15295099|PMID:15563508|PMID:17576681|PMID:20238024|PMID:20626030|PMID:28492532|PMID:29343940|PMID:33022222|PMID:7581389|PMID:9385361|PMID:9536098 11927225 CA4 carbonic anhydrase 4 gene DOID:10584 retinitis pigmentosa susceptibility ISO RGD:1353429 D RGD:9068941 20200609 RGD PMID:15090652|REF_RGD_ID:1600730 11927225 CA4 carbonic anhydrase 4 gene DOID:11372 megacolon ISO RGD:1353429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11927225 CA4 carbonic anhydrase 4 gene DOID:630 genetic disease ISO RGD:1353429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11927225 CA4 carbonic anhydrase 4 gene DOID:8501 fundus dystrophy ISO RGD:1353429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:30718709 11927225 CA4 carbonic anhydrase 4 gene DOID:9002928 Colonic Neoplasms ISO RGD:1332428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 11927226 CHMP6 charged multivesicular body protein 6 gene DOID:630 genetic disease ISO RGD:1606234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927243 POLR1E RNA polymerase I subunit E gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1602318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11927243 POLR1E RNA polymerase I subunit E gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1602318 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11927243 POLR1E RNA polymerase I subunit E gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1602318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11927243 POLR1E RNA polymerase I subunit E gene DOID:630 genetic disease ISO RGD:1602318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927243 POLR1E RNA polymerase I subunit E gene DOID:9562 primary ciliary dyskinesia ISO RGD:1602318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11927243 POLR1E RNA polymerase I subunit E gene DOID:9870 galactosemia ISO RGD:1602318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:0040084 Streptococcus pneumonia severity ISO RGD:1315104 D RGD:9068941 20200911 RGD PMID:17322108|REF_RGD_ID:38599154 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:0050211 swine influenza ISO RGD:1315104 D RGD:9068941 20200917 RGD PMID:27468760|REF_RGD_ID:38599196 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:0050211 swine influenza severity ISO RGD:1315103 D RGD:9068941 20200917 RGD DNA:misense mutation, substitution:cds:S1635Y, D2850D (rs17847825, rs2230460 ) (human) PMID:29867955|REF_RGD_ID:38599181 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:0050211 swine influenza severity ISO RGD:1315104 D RGD:9068941 20200917 RGD PMID:29867955|REF_RGD_ID:38599181 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1315103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21173233 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:0050902 medulloblastoma ISO RGD:1315103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21652733 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:0060180 colitis ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:21244371|REF_RGD_ID:6482682 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:0081267 graft-versus-host disease ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:21402770|REF_RGD_ID:6482681 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:10126 keratoconus ISO RGD:1315103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:10283 prostate cancer ISO RGD:1315103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:10652 Alzheimer's disease ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:20025958|REF_RGD_ID:6482689 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:12849 autistic disorder ISO RGD:1315103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14627686 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:12849 autistic disorder ISO RGD:1315103 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs1129293 (human) PMID:14627686|REF_RGD_ID:6482702 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:1324 lung cancer ISO RGD:1315103 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:13622 campylobacteriosis treatment ISO RGD:1315104 D RGD:9068941 20200917 RGD PMID:23180818|REF_RGD_ID:38599193 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:14069 cerebral malaria ISO RGD:1315104 D RGD:9068941 20200917 RGD PMID:25775137|REF_RGD_ID:38599200 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:1485 cystic fibrosis ISO RGD:1315103 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:25741868 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:1936 atherosclerosis severity ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:17483449|REF_RGD_ID:1642394 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:2841 asthma ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:18754810|REF_RGD_ID:6482695 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:2843 long QT syndrome ISO RGD:1315103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:1315103 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas (human) PMID:20876794|REF_RGD_ID:14390130 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:399 tuberculosis ISO RGD:1315104 D RGD:9068941 20200917 RGD PMID:30514491|REF_RGD_ID:38599199 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:5082 liver cirrhosis treatment ISO RGD:1306468 D RGD:9068941 20200917 RGD associated with Schistosomiasis Japonica PMID:29323718|REF_RGD_ID:38599216 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:5844 myocardial infarction ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:20056919|REF_RGD_ID:6482688 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:6000 congestive heart failure ISO RGD:1315103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12963636 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:6000 congestive heart failure ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:15936620|REF_RGD_ID:6482699 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:630 genetic disease ISO RGD:1315103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:820 myocarditis ISO RGD:1315104 D RGD:9068941 20200917 RGD associated with endotoxemia PMID:20028656|REF_RGD_ID:38599186 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:8632 Kaposi's sarcoma treatment ISO RGD:1315104 D RGD:9068941 20201218 RGD PMID:21665152|REF_RGD_ID:38599159 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:8947 diabetic retinopathy ISO RGD:1306468 D RGD:9068941 20210219 RGD mRNA, protein:increased expression:retina PMID:31759996|REF_RGD_ID:41410819 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9000099 Experimental Colitis susceptibility ISO RGD:1315104 D RGD:9068941 20200917 RGD PMID:20347874|REF_RGD_ID:38599183 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9000784 Fibrosis ISO RGD:1306468 D RGD:9068941 20200609 RGD PMID:21866628|REF_RGD_ID:6482708 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9000784 Fibrosis ISO RGD:1315103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12963636 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:16374167|REF_RGD_ID:6482697 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9002457 Experimental Arthritis ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:18412166|PMID:20374644|REF_RGD_ID:6482684|REF_RGD_ID:6482696 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:20303183|REF_RGD_ID:6482686 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9003936 Cardiomegaly ISO RGD:1315103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12963636 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9004179 Immunodeficiency 97 with Autoinflammation ISO RGD:1315103 D RGD:7240710 20220413 OMIM 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9004179 Immunodeficiency 97 with Autoinflammation ISO RGD:1315103 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Immunodeficiency 97 with autoinflammation PMID:31554793|PMID:33054089 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9004422 Chagas Cardiomyopathy ISO RGD:1315104 D RGD:9068941 20200911 RGD mRNA:increased expression:heart (mouse) PMID:29666415|REF_RGD_ID:38599151 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9004422 Chagas Cardiomyopathy disease_progression ISO RGD:1315103 D RGD:9068941 20200911 RGD mRNA:increased expression:heart (human) PMID:29666415|REF_RGD_ID:38599151 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9004422 Chagas Cardiomyopathy disease_progression ISO RGD:1315104 D RGD:9068941 20200911 RGD PMID:29666415|REF_RGD_ID:38599151 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9004484 Sepsis ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:20508212|REF_RGD_ID:6482683 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9004610 Acute Lung Injury ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:22198681|REF_RGD_ID:6482677 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9004610 Acute Lung Injury ISO RGD:1315104 D RGD:9068941 20200917 RGD associated with endotoxemia PMID:11714830|REF_RGD_ID:38599213 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9005372 Inflammation ISO RGD:1306468 D RGD:9068941 20200609 RGD PMID:17526805|REF_RGD_ID:1642429 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9007096 Stroke ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:21546487|REF_RGD_ID:6482678 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:20179753|REF_RGD_ID:6482687 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9008104 Cancer Pain ISO RGD:1306468 D RGD:9068941 20220505 RGD mRNA, protein:increased expression:spinal cord (rat) PMID:25919859|REF_RGD_ID:152025537 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9008443 Colorectal Neoplasms ISO RGD:1315104 D RGD:9068941 20200609 RGD associated with Colitis PMID:20004201|REF_RGD_ID:6482694 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9074 systemic lupus erythematosus ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:16365454|REF_RGD_ID:6482698 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9352 type 2 diabetes mellitus ISO RGD:1315103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31626838 11927274 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9970 obesity ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:21949398|REF_RGD_ID:6482700 11927299 LETM2 leucine zipper and EF-hand containing transmembrane protein 2 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1322565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 11927299 LETM2 leucine zipper and EF-hand containing transmembrane protein 2 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1322565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 11927299 LETM2 leucine zipper and EF-hand containing transmembrane protein 2 gene DOID:607 paraplegia ISO RGD:1322565 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11927299 LETM2 leucine zipper and EF-hand containing transmembrane protein 2 gene DOID:630 genetic disease ISO RGD:1322565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927326 NMUR1 neuromedin U receptor 1 gene DOID:0060476 Perlman syndrome ISO RGD:1348049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11927326 NMUR1 neuromedin U receptor 1 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1348049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11927326 NMUR1 neuromedin U receptor 1 gene DOID:630 genetic disease ISO RGD:1348049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927337 TMT1B thiol methyltransferase 1B gene DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency ISO RGD:1603260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency PMID:28492532 11927337 TMT1B thiol methyltransferase 1B gene DOID:4001 ovarian carcinoma ISO RGD:1603260 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 11927337 TMT1B thiol methyltransferase 1B gene DOID:630 genetic disease ISO RGD:1603260 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927343 ZBED5 zinc finger BED-type containing 5 gene DOID:630 genetic disease ISO RGD:1603615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927364 PRSS58 serine protease 58 gene DOID:630 genetic disease ISO RGD:1606966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927364 PRSS58 serine protease 58 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1606966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 11927379 SPHK2 sphingosine kinase 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:1317131 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23043544 11927379 SPHK2 sphingosine kinase 2 gene DOID:630 genetic disease ISO RGD:1317131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927379 SPHK2 sphingosine kinase 2 gene DOID:9008023 Memory Disorders ISO RGD:1317131 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24859201 11927417 RNH1 ribonuclease/angiogenin inhibitor 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11927417 RNH1 ribonuclease/angiogenin inhibitor 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:735371 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11927417 RNH1 ribonuclease/angiogenin inhibitor 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:735371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11927417 RNH1 ribonuclease/angiogenin inhibitor 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11927417 RNH1 ribonuclease/angiogenin inhibitor 1 gene DOID:630 genetic disease ISO RGD:735371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927510 PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:0110214 cleft soft palate ISO RGD:1606836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft soft palate PMID:22689593|PMID:25238597|PMID:25741868|PMID:28492532|PMID:29177700|PMID:29178448 11927510 PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:12347 osteogenesis imperfecta ISO RGD:1606836 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:22689593|PMID:25086671|PMID:25238597|PMID:25741868|PMID:28492532|PMID:29178448|PMID:32655337 11927510 PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:1459 hypothyroidism ISO RGD:3353 D RGD:9068941 20200609 RGD mRNA:decreased expression:multiple organs PMID:15817667|REF_RGD_ID:2314536 11927510 PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1606836 D RGD:9068941 20220407 RGD PMID:29072684|REF_RGD_ID:151665822 11927510 PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:5082 liver cirrhosis ISO RGD:1606836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 11927510 PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:630 genetic disease ISO RGD:1606836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11927510 PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1606836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11927510 PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:8398 osteoarthritis ISO RGD:1606836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11927510 PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:1606836 D RGD:9068941 20220407 RGD associated with lung non-small cell carcinoma PMID:29072684|REF_RGD_ID:151665822 11927510 PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11927510 PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:9002665 Bruck Syndrome 2 ISO RGD:1606836 D RGD:7240710 20180130 OMIM 11927510 PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:9002665 Bruck Syndrome 2 ISO RGD:1606836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bruck syndrome 2 PMID:12881513|PMID:15523624|PMID:22689593|PMID:25086671|PMID:25238597|PMID:25741868|PMID:28116328|PMID:28492532|PMID:29177700|PMID:29178448|PMID:31472299|PMID:32655337|PMID:9927692 11927510 PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:9004389 Bone Neoplasms ISO RGD:1606836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15865105 11927537 ADH6 alcohol dehydrogenase 6 (class V) gene DOID:0060041 autism spectrum disorder ISO RGD:1314863 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11927537 ADH6 alcohol dehydrogenase 6 (class V) gene DOID:630 genetic disease ISO RGD:1314863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927550 PHF21B PHD finger protein 21B gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1344183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11927550 PHF21B PHD finger protein 21B gene DOID:1059 intellectual disability ISO RGD:1344183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11927550 PHF21B PHD finger protein 21B gene DOID:630 genetic disease ISO RGD:1344183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927565 ACD ACD shelterin complex subunit and telomerase recruitment factor gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:1351362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 11927565 ACD ACD shelterin complex subunit and telomerase recruitment factor gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1351362 D RGD:7240710 20180130 OMIM 11927565 ACD ACD shelterin complex subunit and telomerase recruitment factor gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1351362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:16199547|PMID:17576681|PMID:25205116|PMID:25233904|PMID:25505254|PMID:25741868|PMID:27807141|PMID:28492532|PMID:29843741|PMID:29891727|PMID:30064976|PMID:31515401|PMID:32325837|PMID:33822766|PMID:9536098 11927565 ACD ACD shelterin complex subunit and telomerase recruitment factor gene DOID:0111984 immunodeficiency 58 ISO RGD:1351362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARMIL2 deficiency PMID:25741868 11927565 ACD ACD shelterin complex subunit and telomerase recruitment factor gene DOID:630 genetic disease ISO RGD:1351362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:29843741|PMID:31515401|PMID:9536098 11927565 ACD ACD shelterin complex subunit and telomerase recruitment factor gene DOID:9008958 Autosomal Recessive Dyskeratosis Congenita 7 ISO RGD:1351362 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 7 PMID:25205116|PMID:25233904|PMID:25741868|PMID:27807141|PMID:28492532|PMID:31515401|PMID:33822766 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:737311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:10205047|PMID:10364675|PMID:10567493|PMID:10761708|PMID:10900011|PMID:11106358|PMID:11114638|PMID:11257211|PMID:11409863|PMID:11739384|PMID:11987242|PMID:12000816|PMID:12114495|PMID:12393546|PMID:12414898|PMID:12415268|PMID:12702509|PMID:12844285|PMID:14604959|PMID:14722919|PMID:14726398|PMID:14767570|PMID:14973063|PMID:15300849|PMID:15574766|PMID:15642664|PMID:15932632|PMID:16210343|PMID:16884327|PMID:17024664|PMID:17102069|PMID:17264095|PMID:17992257|PMID:18446368|PMID:18836774|PMID:19030229|PMID:19228690|PMID:19270817|PMID:19304954|PMID:19408298|PMID:19464396|PMID:19494350|PMID:19574279|PMID:19602254|PMID:19906784|PMID:20120764|PMID:20447124|PMID:20660572|PMID:21362373|PMID:21454469|PMID:21463266|PMID:21606165|PMID:21685897|PMID:21876117|PMID:21993671|PMID:22234250|PMID:22393103|PMID:22799452|PMID:23015148|PMID:23403324|PMID:23434161|PMID:23512077|PMID:23842656|PMID:23990664|PMID:23990666|PMID:24033266|PMID:24206762|PMID:24301059|PMID:24466223|PMID:24707167|PMID:24728327|PMID:25119015|PMID:25157968|PMID:25371412|PMID:25563310|PMID:25637381|PMID:25720320|PMID:25741868|PMID:25867206|PMID:26822237|PMID:27034144|PMID:27057652|PMID:27146957|PMID:27527340|PMID:27539324|PMID:27617348|PMID:28492532|PMID:28503092|PMID:28944243|PMID:29595810|PMID:29616089|PMID:29790589|PMID:30042107|PMID:30338240|PMID:30877234|PMID:31132167|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7784063|PMID:7987306|PMID:7987327|PMID:8270255|PMID:8522307|PMID:8592333|PMID:8634692|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8956040|PMID:9058738|PMID:9156047|PMID:9398721|PMID:9399847|PMID:9452032|PMID:9663592|PMID:9829911|PMID:9829912 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:0050771 pheochromocytoma ISO RGD:737311 D RGD:7240710 20180130 OMIM 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:0050771 pheochromocytoma ISO RGD:737311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:10408776|PMID:10900011|PMID:11331612|PMID:11483638|PMID:12000816|PMID:12393546|PMID:12414898|PMID:12844285|PMID:14722919|PMID:14973063|PMID:15300849|PMID:15611064|PMID:15642680|PMID:16452184|PMID:17102069|PMID:17102080|PMID:17661816|PMID:17922902|PMID:18567581|PMID:18836774|PMID:19030229|PMID:19228690|PMID:19336503|PMID:19464396|PMID:19574279|PMID:19602254|PMID:19763184|PMID:19808854|PMID:20151405|PMID:20660572|PMID:21204227|PMID:21463266|PMID:22145147|PMID:22438210|PMID:22799452|PMID:23397066|PMID:23512077|PMID:23772956|PMID:24033266|PMID:24555745|PMID:24977658|PMID:25119015|PMID:25157968|PMID:25563310|PMID:25741868|PMID:26323595|PMID:26822237|PMID:26845104|PMID:27539324|PMID:28388566|PMID:28432847|PMID:28492532|PMID:28873162|PMID:28944243|PMID:29124493|PMID:29616089|PMID:29891534|PMID:30042107|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7759077|PMID:7784063|PMID:7987306|PMID:8270255|PMID:8592333|PMID:8707293|PMID:8772572|PMID:8956040|PMID:9156047|PMID:9329368|PMID:9663592|PMID:9829911|PMID:9829912 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:0060221 Maffucci syndrome ISO RGD:737311 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maffucci syndrome PMID:16884327|PMID:24728327|PMID:25741868|PMID:28492532|PMID:9663592 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:0060474 familial erythrocytosis 2 ISO RGD:737311 D RGD:7240710 20180130 OMIM 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:0060474 familial erythrocytosis 2 ISO RGD:737311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chuvash polycythemia | ClinVar Annotator: match by term: Erythrocytosis, familial, 2 PMID:10088816|PMID:10102622|PMID:10205047|PMID:10326868|PMID:10340905|PMID:10364675|PMID:10408776|PMID:10458336|PMID:10533030|PMID:1056348|PMID:10563480|PMID:10567493|PMID:10570625|PMID:10587522|PMID:10612827|PMID:10612832|PMID:10627136|PMID:10697963|PMID:10761708|PMID:10766184|PMID:10823831|PMID:10830910|PMID:10862095|PMID:10878807|PMID:10900011|PMID:11024059|PMID:11058902|PMID:11106358|PMID:11114638|PMID:11160785|PMID:11257211|PMID:11309459|PMID:11331612|PMID:11331613|PMID:11409863|PMID:11483638|PMID:11505222|PMID:11536052|PMID:11688393|PMID:11688398|PMID:11709017|PMID:11739384|PMID:11865071|PMID:11896624|PMID:11921283|PMID:11986208|PMID:11987242|PMID:12000816|PMID:12004076|PMID:12050673|PMID:12081237|PMID:12114475|PMID:12114495|PMID:12202531|PMID:12351569|PMID:12393546|PMID:12414898|PMID:12415268|PMID:12500216|PMID:12510195|PMID:12538644|PMID:12603429|PMID:12624160|PMID:12629069|PMID:12702509|PMID:12807974|PMID:12844285|PMID:12853836|PMID:12912922|PMID:13985160|PMID:14500403|PMID:14556007|PMID:14604959|PMID:14722919|PMID:14726398|PMID:14767570|PMID:14965365|PMID:14973063|PMID:14987375|PMID:15002726|PMID:15109448|PMID:15177666|PMID:15241800|PMID:15300849|PMID:15574766|PMID:15607616|PMID:15611064|PMID:15642664|PMID:15642680|PMID:15709172|PMID:15881703|PMID:15921368|PMID:15921386|PMID:15932632|PMID:16103922|PMID:16142346|PMID:16199547|PMID:16210343|PMID:16261165|PMID:16314641|PMID:16452184|PMID:16488999|PMID:16502427|PMID:16505488|PMID:16572651|PMID:16595991|PMID:16669786|PMID:16775032|PMID:16809612|PMID:16847331|PMID:16868829|PMID:16884327|PMID:16884328|PMID:16952288|PMID:16969113|PMID:17001110|PMID:17006605|PMID:17024664|PMID:17060462|PMID:17102069|PMID:17102080|PMID:17102082|PMID:17102087|PMID:17102088|PMID:17159241|PMID:17264095|PMID:17350623|PMID:17392848|PMID:17406817|PMID:17407064|PMID:17526729|PMID:17537157|PMID:17576681|PMID:17640059|PMID:17661816|PMID:17688370|PMID:17906660|PMID:17919893|PMID:17922902|PMID:17967880|PMID:17992257|PMID:17997830|PMID:18031321|PMID:18067796|PMID:18195360|PMID:18205710|PMID:18209888|PMID:18446368|PMID:18544564|PMID:18551016|PMID:18567581|PMID:18580449|PMID:18584357|PMID:18676741|PMID:18685280|PMID:18836774|PMID:18928468|PMID:19009041|PMID:19029228|PMID:19030229|PMID:19215943|PMID:19228690|PMID:19252526|PMID:19258401|PMID:19270817|PMID:19280651|PMID:19293973|PMID:19304954|PMID:19309509|PMID:19336503|PMID:19408298|PMID:19464396|PMID:19494350|PMID:19558618|PMID:19574279|PMID:19576851|PMID:19602254|PMID:19620968|PMID:19694021|PMID:19763184|PMID:19764026|PMID:19808854|PMID:19906784|PMID:19949673|PMID:19958924|PMID:19996202|PMID:20034980|PMID:20054297|PMID:20064270|PMID:20120764|PMID:20151405|PMID:20223044|PMID:20233476|PMID:20300531|PMID:20351605|PMID:20388653|PMID:20447124|PMID:20518900|PMID:20560986|PMID:20567917|PMID:20583150|PMID:20660572|PMID:20844582|PMID:20846682|PMID:20850701|PMID:20855504|PMID:20952280|PMID:21204227|PMID:21258414|PMID:21362373|PMID:21384277|PMID:21389259|PMID:21449869|PMID:21454469|PMID:21463266|PMID:21606165|PMID:21685897|PMID:21713522|PMID:21715564|PMID:21784903|PMID:21791076|PMID:21876117|PMID:21972040|PMID:21993671|PMID:22071692|PMID:22105611|PMID:22105711|PMID:22156657|PMID:22234250|PMID:22241717|PMID:22357542|PMID:22393103|PMID:22438210|PMID:22462637|PMID:22517557|PMID:22649785|PMID:22683710|PMID:22703879|PMID:22799452|PMID:22825683|PMID:23015148|PMID:23036577|PMID:23070752|PMID:23102223|PMID:23143947|PMID:23224817|PMID:23298237|PMID:23315997|PMID:23318261|PMID:23327821|PMID:23384228|PMID:23397066|PMID:23403324|PMID:23407287|PMID:23407919|PMID:23434161|PMID:23512077|PMID:23538339|PMID:23541568|PMID:23606570|PMID:23626751|PMID:23660872|PMID:23673869|PMID:23772956|PMID:23788753|PMID:23840444|PMID:23842656|PMID:23845641|PMID:23859443|PMID:23990664|PMID:23990666|PMID:24002598|PMID:24033266|PMID:24055113|PMID:24102379|PMID:24115288|PMID:24132471|PMID:24134185|PMID:24206762|PMID:24301059|PMID:24335534|PMID:24339559|PMID:24446253|PMID:24466223|PMID:24518179 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:0060474 familial erythrocytosis 2 ISO RGD:737311 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chuvash polycythemia | ClinVar Annotator: match by term: Erythrocytosis, familial, 2 PMID:24555745|PMID:24581539|PMID:24583008|PMID:24678776|PMID:24707167|PMID:24727139|PMID:24728327|PMID:24729484|PMID:24779271|PMID:24969085|PMID:24977658|PMID:25069792|PMID:25078357|PMID:25119015|PMID:25157968|PMID:25282218|PMID:25310726|PMID:25371412|PMID:25405498|PMID:25557216|PMID:25562111|PMID:25563310|PMID:25583177|PMID:25586603|PMID:25637381|PMID:25640679|PMID:25715769|PMID:25720320|PMID:25741868|PMID:25825477|PMID:25867206|PMID:25885250|PMID:25952756|PMID:25966224|PMID:25985138|PMID:26206375|PMID:26211615|PMID:26224408|PMID:26228213|PMID:26268347|PMID:26323595|PMID:26332594|PMID:26467025|PMID:26503325|PMID:26580448|PMID:26622630|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26920352|PMID:26934580|PMID:26957611|PMID:26973240|PMID:27034144|PMID:27057652|PMID:27146957|PMID:27311873|PMID:27439424|PMID:27498913|PMID:27527340|PMID:27530247|PMID:27539324|PMID:27578599|PMID:27617348|PMID:27651169|PMID:27682873|PMID:27730413|PMID:27785399|PMID:27811160|PMID:28052007|PMID:28202063|PMID:28288108|PMID:28379443|PMID:28388566|PMID:28432847|PMID:2844285|PMID:28454591|PMID:28469506|PMID:28492532|PMID:28503092|PMID:28643803|PMID:28650583|PMID:28724667|PMID:28775317|PMID:28849724|PMID:28873162|PMID:28944243|PMID:28951115|PMID:28973655|PMID:29022557|PMID:29124493|PMID:29294023|PMID:29595810|PMID:29607586|PMID:29616089|PMID:29625052|PMID:29662268|PMID:29684080|PMID:29748190|PMID:29749453|PMID:29790589|PMID:29871882|PMID:29891534|PMID:29946849|PMID:29949369|PMID:29978187|PMID:30006056|PMID:30042107|PMID:30093976|PMID:30105105|PMID:30185211|PMID:30194449|PMID:30278534|PMID:30338240|PMID:30477447|PMID:30522901|PMID:30548481|PMID:30877234|PMID:30900640|PMID:30902965|PMID:30943211|PMID:30946460|PMID:31034483|PMID:31087189|PMID:31132167|PMID:31149315|PMID:31159747|PMID:31337753|PMID:31350093|PMID:31368132|PMID:31383958|PMID:31397861|PMID:31447099|PMID:31528828|PMID:31538058|PMID:31620170|PMID:31666924|PMID:31779674|PMID:31996412|PMID:32101665|PMID:32106822|PMID:32238909|PMID:32303605|PMID:32420132|PMID:32561571|PMID:32671223|PMID:32869749|PMID:33004005|PMID:33151962|PMID:33219105|PMID:33362715|PMID:33720516|PMID:33840814|PMID:33938902|PMID:34036514|PMID:34109129|PMID:34416425|PMID:34439168|PMID:34566400|PMID:35008334|PMID:35448166|PMID:35734542|PMID:36281577|PMID:7553625|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7759077|PMID:7784063|PMID:7915601|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8069305|PMID:8187067|PMID:8239848|PMID:8270255|PMID:8493574|PMID:8522307|PMID:8550742|PMID:8592333|PMID:8634692|PMID:8641695|PMID:8641976|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8825918|PMID:8825919|PMID:8863170|PMID:8956040|PMID:9058738|PMID:9156047|PMID:9209471|PMID:9215674|PMID:9329368|PMID:9398721|PMID:9399847|PMID:9435426|PMID:9447969|PMID:9452032|PMID:9463336|PMID:9523203|PMID:9536098|PMID:9663592|PMID:9671762|PMID:9681856|PMID:9681858|PMID:9751722|PMID:9770531|PMID:982991|PMID:9829911|PMID:9829912|PMID:9880225 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:737311 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:0080855 Parkinsonism ISO RGD:3960 D RGD:9068941 20200609 RGD PMID:20302395|REF_RGD_ID:2325190 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:0110671 congenital myasthenic syndrome 6 ISO RGD:737311 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC PMID:10567493|PMID:12000816|PMID:12114495|PMID:14722919|PMID:14767570|PMID:15300849|PMID:18446368|PMID:19270817|PMID:20120764|PMID:21362373|PMID:23842656|PMID:24206762|PMID:24301059|PMID:24707167|PMID:25157968|PMID:25720320|PMID:25741868|PMID:25867206|PMID:27527340|PMID:27617348|PMID:28492532|PMID:7728151|PMID:7784063|PMID:7987306|PMID:7987327|PMID:8522307|PMID:8730290|PMID:8956040|PMID:9452032|PMID:9829911|PMID:9829912 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:737311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:10763 hypertension ISO RGD:737311 D RGD:9068941 20200609 RGD PMID:12500216|REF_RGD_ID:1580371 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:11054 urinary bladder cancer ISO RGD:3960 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder PMID:19399409|REF_RGD_ID:2325183 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:13636 Fanconi anemia ISO RGD:737311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:17436244|PMID:28492532 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:14175 von Hippel-Lindau disease ISO RGD:737311 D RGD:7240710 20180130 OMIM 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:14175 von Hippel-Lindau disease ISO RGD:737311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Von Hippel-Lindau syndrome PMID:10088816|PMID:10102622|PMID:10205047|PMID:10326868|PMID:10340905|PMID:10364675|PMID:10408776|PMID:10458336|PMID:10533030|PMID:1056348|PMID:10563480|PMID:10567493|PMID:10570625|PMID:10581162|PMID:10587522|PMID:10612827|PMID:10627136|PMID:10697963|PMID:10761708|PMID:10766184|PMID:10823831|PMID:10862095|PMID:10878807|PMID:10900011|PMID:10955664|PMID:11058902|PMID:11106358|PMID:11114638|PMID:11160785|PMID:11257211|PMID:11309459|PMID:11331612|PMID:11331613|PMID:11409863|PMID:11483638|PMID:11505222|PMID:11536052|PMID:11688393|PMID:11688398|PMID:11709017|PMID:11739384|PMID:11865071|PMID:11896624|PMID:11921283|PMID:11987242|PMID:12000816|PMID:12004076|PMID:12050673|PMID:12056827|PMID:12081237|PMID:12114475|PMID:12114495|PMID:12202531|PMID:12351569|PMID:12393546|PMID:12414898|PMID:12415268|PMID:12500216|PMID:12510195|PMID:12538644|PMID:12603429|PMID:12624160|PMID:12629069|PMID:12702509|PMID:12807974|PMID:12844285|PMID:12853836|PMID:12912922|PMID:13985160|PMID:14500403|PMID:14556007|PMID:14604959|PMID:14722919|PMID:14726398|PMID:14767570|PMID:14965365|PMID:14973063|PMID:14987375|PMID:15109448|PMID:15177666|PMID:15300849|PMID:15574766|PMID:15611064|PMID:15642664|PMID:15642680|PMID:15881703|PMID:15932632|PMID:16142346|PMID:16199547|PMID:16210343|PMID:16261165|PMID:16314641|PMID:16452184|PMID:16488999|PMID:16502427|PMID:16505488|PMID:16572651|PMID:16595991|PMID:16669786|PMID:16775032|PMID:16809612|PMID:16847331|PMID:16868829|PMID:16884327|PMID:16952288|PMID:16969113|PMID:17001110|PMID:17024664|PMID:17060462|PMID:17102069|PMID:17102082|PMID:17102087|PMID:17159241|PMID:17264095|PMID:17350623|PMID:17406817|PMID:17407064|PMID:17526729|PMID:17576681|PMID:17640059|PMID:17661816|PMID:17688370|PMID:17906660|PMID:17919893|PMID:17922902|PMID:17967880|PMID:17992257|PMID:17997830|PMID:18067796|PMID:18195360|PMID:18205710|PMID:18209888|PMID:18446368|PMID:18544564|PMID:18551016|PMID:18567581|PMID:18580449|PMID:18584357|PMID:18676741|PMID:18685280|PMID:18836774|PMID:18928468|PMID:19009041|PMID:19029228|PMID:19030229|PMID:19096585|PMID:19215943|PMID:19228690|PMID:19252526|PMID:19258401|PMID:19270817|PMID:19280651|PMID:19293973|PMID:19304954|PMID:19309509|PMID:19336503|PMID:19408298|PMID:19464396|PMID:19494350|PMID:19574279|PMID:19576851|PMID:19602254|PMID:19620968|PMID:19694021|PMID:19734639|PMID:19763184|PMID:19764026|PMID:19808854|PMID:19906784|PMID:19949673|PMID:19958924|PMID:19996202|PMID:20034980|PMID:20054297|PMID:20064270|PMID:20120764|PMID:20151405|PMID:20223044|PMID:20233476|PMID:20351605|PMID:20388653|PMID:20447124|PMID:20518900|PMID:20560986|PMID:20567917|PMID:20583150|PMID:20660572|PMID:20846682|PMID:20850701|PMID:20855504|PMID:20952280|PMID:21204227|PMID:21258414|PMID:21362373|PMID:21384277|PMID:21389259|PMID:21454469|PMID:21463266|PMID:21606165|PMID:21685897|PMID:21713522|PMID:21715564|PMID:21784903|PMID:21791076|PMID:21876117|PMID:21972040|PMID:21993671|PMID:22071692|PMID:22105611|PMID:22105711|PMID:22156657|PMID:22234250|PMID:22241717|PMID:22357542|PMID:22393103|PMID:22438210|PMID:22462637|PMID:22517557|PMID:22649785|PMID:22683710|PMID:22799452|PMID:22825683|PMID:23015148|PMID:23036577|PMID:23070752|PMID:23102223|PMID:23143947|PMID:23224817|PMID:23298237|PMID:23315997|PMID:23318261|PMID:23327821|PMID:23384228|PMID:23397066|PMID:23403324|PMID:23407919|PMID:23434161|PMID:23512077|PMID:23541568|PMID:23606570|PMID:23626751|PMID:23660872|PMID:23673869|PMID:23772956|PMID:23788753|PMID:23840444|PMID:23842656|PMID:23845641|PMID:23859443|PMID:23990664|PMID:23990666|PMID:24002598|PMID:24033266|PMID:24055113|PMID:24102379|PMID:24115288|PMID:24132471|PMID:24134185|PMID:24147197|PMID:24206762|PMID:24301059|PMID:24335534|PMID:24339559|PMID:24446253|PMID:24555745|PMID:24581539|PMID:24583008|PMID:24678776|PMID:24707167|PMID:24727139|PMID:24728327|PMID:24729484|PMID:24779271|PMID:24969085|PMID:24977658|PMID:24986515|PMID:25078357|PMID:25119015|PMID:25157968|PMID:25282218|PMID:25310726|PMID:25371412|PMID:25405498|PMID:25557216|PMID:25562111 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:14175 von Hippel-Lindau disease ISO RGD:737311 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Von Hippel-Lindau syndrome PMID:25563310|PMID:25583177|PMID:25586603|PMID:25637381|PMID:25715769|PMID:25720320|PMID:25741868|PMID:25741896|PMID:25825477|PMID:25867206|PMID:25952756|PMID:25966224|PMID:25985138|PMID:26206375|PMID:26211615|PMID:26228213|PMID:26268347|PMID:26332594|PMID:26467025|PMID:26503325|PMID:26580448|PMID:26622630|PMID:26681312|PMID:26763786|PMID:26822237|PMID:26845104|PMID:26920352|PMID:26934580|PMID:26973240|PMID:27034144|PMID:27057652|PMID:27146957|PMID:27179072|PMID:27311873|PMID:27439424|PMID:27498913|PMID:27527340|PMID:27530247|PMID:27539324|PMID:27617348|PMID:27651169|PMID:27730413|PMID:27785399|PMID:28052007|PMID:28202063|PMID:28349240|PMID:28379443|PMID:28388566|PMID:28432847|PMID:2844285|PMID:28454591|PMID:28469506|PMID:28492532|PMID:28503092|PMID:28643803|PMID:28650583|PMID:28775317|PMID:28849724|PMID:28873162|PMID:28944243|PMID:28951115|PMID:28973655|PMID:29022557|PMID:29124493|PMID:29294023|PMID:29437867|PMID:29595810|PMID:29616089|PMID:29625052|PMID:29662268|PMID:29684080|PMID:29748190|PMID:29749453|PMID:29789510|PMID:29790589|PMID:29871882|PMID:29891534|PMID:29946849|PMID:29949369|PMID:29978187|PMID:30042107|PMID:30093976|PMID:30105105|PMID:30185211|PMID:30194449|PMID:30278534|PMID:30338240|PMID:30522901|PMID:30877234|PMID:30900640|PMID:30902965|PMID:30943211|PMID:30946460|PMID:31034483|PMID:31087189|PMID:31132167|PMID:31149315|PMID:31159747|PMID:31350093|PMID:31368132|PMID:31383958|PMID:31397861|PMID:31447099|PMID:31528828|PMID:31538058|PMID:31620170|PMID:31666924|PMID:31779674|PMID:32106822|PMID:32238909|PMID:32869749|PMID:33004005|PMID:33151962|PMID:33219105|PMID:33362715|PMID:33618821|PMID:33720516|PMID:33840814|PMID:33938902|PMID:34036514|PMID:34109129|PMID:34416425|PMID:34439168|PMID:34566400|PMID:35008334|PMID:35448166|PMID:35734542|PMID:7553625|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7759077|PMID:7784063|PMID:7915601|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8069849|PMID:8187067|PMID:8239848|PMID:8270255|PMID:8493574|PMID:8522307|PMID:8550742|PMID:8592333|PMID:8634692|PMID:8641695|PMID:8641976|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8825918|PMID:8825919|PMID:8863170|PMID:8956040|PMID:9058738|PMID:9143408|PMID:9156047|PMID:9209471|PMID:9215674|PMID:9329368|PMID:9398721|PMID:9399847|PMID:9435426|PMID:9452032|PMID:9536098|PMID:9663592|PMID:9671762|PMID:9681856|PMID:9681858|PMID:9751722|PMID:9770531|PMID:982991|PMID:9829911|PMID:9829912|PMID:9880225 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:14566 disease of cellular proliferation ISO RGD:737311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:10567493|PMID:10761708|PMID:11106358|PMID:11309459|PMID:11409863|PMID:11739384|PMID:12414898|PMID:16809612|PMID:17024664|PMID:17661816|PMID:18676741|PMID:19228690|PMID:19408298|PMID:19906784|PMID:20054297|PMID:20151405|PMID:20447124|PMID:21715564|PMID:22234250|PMID:22357542|PMID:23990664|PMID:23990666|PMID:24033266|PMID:25078357|PMID:25157968|PMID:25637381|PMID:25741868|PMID:27527340|PMID:28469506|PMID:28492532|PMID:28503092|PMID:29748190|PMID:29790589|PMID:29949369|PMID:30877234|PMID:7563486|PMID:8634692|PMID:8707293|PMID:8772572|PMID:8956040|PMID:9829911 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:1793 pancreatic cancer ISO RGD:737311 D RGD:9068941 20200609 RGD DNA:hypermethylation, deletion:promoter (human) PMID:19690016|REF_RGD_ID:2325169 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:1793 pancreatic cancer ISO RGD:737311 D RGD:9068941 20200609 RGD associated with Hippel-Lindau Disease;DNA:missense mutation:exon:p.R238Q (human) PMID:9488521|REF_RGD_ID:2325176 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:2154 nephroblastoma ISO RGD:3960 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:11880179|REF_RGD_ID:625549 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:2154 nephroblastoma ISO RGD:737311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11880179 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:2377 multiple sclerosis ISO RGD:737311 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:2394 ovarian cancer ISO RGD:737311 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24727139|PMID:24728327|PMID:25741868|PMID:27498913|PMID:28492532 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:2975 cystic kidney disease ISO RGD:737311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal cyst PMID:25741868 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:305 carcinoma ISO RGD:737311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16061637 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:3587 pancreatic ductal carcinoma ISO RGD:737311 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:19065635|REF_RGD_ID:2325022 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:4450 renal cell carcinoma ISO RGD:737311 D RGD:7240710 20180130 OMIM 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:4450 renal cell carcinoma ISO RGD:737311 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma with paraneoplastic erythrocytosis PMID:10567493|PMID:10900011|PMID:11309459|PMID:11331612|PMID:11921283|PMID:11986208|PMID:12000816|PMID:12114495|PMID:14722919|PMID:14767570|PMID:14973063|PMID:15300849|PMID:15607616|PMID:16452184|PMID:17102069|PMID:17661816|PMID:18446368|PMID:18567581|PMID:18836774|PMID:19270817|PMID:19464396|PMID:19574279|PMID:19602254|PMID:20120764|PMID:20660572|PMID:21362373|PMID:21463266|PMID:22799452|PMID:23512077|PMID:23772956|PMID:23842656|PMID:24206762|PMID:24301059|PMID:24707167|PMID:25119015|PMID:25157968|PMID:25563310|PMID:25720320|PMID:25741868|PMID:25867206|PMID:26822237|PMID:27527340|PMID:27539324|PMID:27617348|PMID:28492532|PMID:28944243|PMID:29124493|PMID:29616089|PMID:30042107|PMID:33720516|PMID:35008334|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7784063|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8270255|PMID:8522307|PMID:8592333|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8956040|PMID:9156047|PMID:9452032|PMID:9829911|PMID:9829912 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:4465 papillary renal cell carcinoma ISO RGD:737311 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 PMID:10567493|PMID:10900011|PMID:11921283|PMID:12000816|PMID:12114495|PMID:14722919|PMID:14767570|PMID:14973063|PMID:15300849|PMID:17102069|PMID:18446368|PMID:18836774|PMID:19270817|PMID:19464396|PMID:19574279|PMID:19602254|PMID:20120764|PMID:20660572|PMID:21362373|PMID:21463266|PMID:22799452|PMID:23512077|PMID:23842656|PMID:24206762|PMID:24301059|PMID:24707167|PMID:25119015|PMID:25157968|PMID:25563310|PMID:25720320|PMID:25741868|PMID:25867206|PMID:26822237|PMID:27527340|PMID:27539324|PMID:27617348|PMID:28492532|PMID:28944243|PMID:29616089|PMID:30042107|PMID:33720516|PMID:7660122|PMID:7728151|PMID:7784063|PMID:7987306|PMID:7987327|PMID:8270255|PMID:8522307|PMID:8592333|PMID:8730290|PMID:8956040|PMID:9156047|PMID:9452032|PMID:9829911|PMID:9829912 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:4624 Ollier disease ISO RGD:737311 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Enchondromatosis PMID:10088816|PMID:10567493|PMID:10612827|PMID:10761708|PMID:11106358|PMID:11257211|PMID:11739384|PMID:12202531|PMID:12414898|PMID:15300849|PMID:17024664|PMID:19228690|PMID:19408298|PMID:19574279|PMID:19906784|PMID:20151405|PMID:20447124|PMID:21715564|PMID:22234250|PMID:23990664|PMID:23990666|PMID:24033266|PMID:24055113|PMID:24969085|PMID:25157968|PMID:25637381|PMID:25741868|PMID:26211615|PMID:27527340|PMID:28492532|PMID:28503092|PMID:29790589|PMID:30877234|PMID:7563486|PMID:7987306|PMID:8634692|PMID:8707293|PMID:8772572|PMID:8956040|PMID:9681856|PMID:9829911|PMID:9829912 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:5119 ovarian cyst susceptibility ISO RGD:1318722 D RGD:9068941 20230128 RGD PMID:29684361|REF_RGD_ID:155804292 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:630 genetic disease ISO RGD:737311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12202531|PMID:16199547|PMID:20233476|PMID:20518900|PMID:20850701|PMID:27527340|PMID:28492532|PMID:29891534|PMID:30900640|PMID:31350093|PMID:8956040|PMID:9829912 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:6500 cerebellar angioblastoma ISO RGD:737311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar hemangioblastoma PMID:10567493|PMID:12114495|PMID:15611064|PMID:22799452|PMID:23384228|PMID:25741868|PMID:28492532|PMID:7728151|PMID:7987306 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:657 adenoma ISO RGD:737311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16061637 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737311 D RGD:9068941 20230202 RGD PMID:31321740|REF_RGD_ID:155882550 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:687 hepatoblastoma ISO RGD:737311 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:10567493|PMID:10612827|PMID:10761708|PMID:11106358|PMID:11257211|PMID:11739384|PMID:12202531|PMID:12414898|PMID:15300849|PMID:19228690|PMID:19574279|PMID:19906784|PMID:20447124|PMID:22234250|PMID:23990664|PMID:23990666|PMID:24033266|PMID:24055113|PMID:25157968|PMID:25637381|PMID:25741868|PMID:26211615|PMID:27527340|PMID:28492532|PMID:28503092|PMID:29790589|PMID:30877234|PMID:7563486|PMID:8634692|PMID:8707293|PMID:8772572|PMID:8956040|PMID:9829911|PMID:9829912 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:8432 polycythemia ISO RGD:737311 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Polycythemia PMID:15642680|PMID:25637381|PMID:28492532 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:9000039 Spinal Cord Injuries ISO RGD:3960 D RGD:9068941 20200609 RGD PMID:20125055|REF_RGD_ID:2325181 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:9002265 Kidney Neoplasms ISO RGD:3960 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:11880179|REF_RGD_ID:625549 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:9002265 Kidney Neoplasms ISO RGD:737311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11880179 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:737311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:10900011|PMID:12000816|PMID:14722919|PMID:14973063|PMID:15300849|PMID:17102069|PMID:18836774|PMID:19464396|PMID:19574279|PMID:19602254|PMID:20660572|PMID:21463266|PMID:22799452|PMID:23512077|PMID:25119015|PMID:25157968|PMID:25563310|PMID:25741868|PMID:26822237|PMID:27539324|PMID:28492532|PMID:28944243|PMID:29616089|PMID:30042107|PMID:7660122|PMID:7728151|PMID:7784063|PMID:7987306|PMID:8270255|PMID:8592333|PMID:8956040|PMID:9156047|PMID:9829911|PMID:9829912 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:9005172 Lung Neoplasms ISO RGD:737311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16061637 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:737311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:737311 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:10567493|PMID:10900011|PMID:11309459|PMID:11331612|PMID:11921283|PMID:12000816|PMID:12114495|PMID:14722919|PMID:14767570|PMID:14973063|PMID:15300849|PMID:16452184|PMID:17102069|PMID:17661816|PMID:18446368|PMID:18567581|PMID:18836774|PMID:19270817|PMID:19464396|PMID:19574279|PMID:19602254|PMID:20120764|PMID:20660572|PMID:21362373|PMID:21463266|PMID:22799452|PMID:23512077|PMID:23772956|PMID:23842656|PMID:24206762|PMID:24301059|PMID:24707167|PMID:25119015|PMID:25157968|PMID:25563310|PMID:25720320|PMID:25741868|PMID:25867206|PMID:26822237|PMID:27527340|PMID:27539324|PMID:27617348|PMID:28492532|PMID:28944243|PMID:29616089|PMID:30042107|PMID:33720516|PMID:35008334|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7784063|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8270255|PMID:8522307|PMID:8592333|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8956040|PMID:9156047|PMID:9452032|PMID:9829911|PMID:9829912 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:9007 sudden infant death syndrome ISO RGD:11485 D RGD:9068941 20220825 MouseDO OMIM:272120 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28643803|PMID:28724667|PMID:28775317|PMID:28873162|PMID:28944243|PMID:29124493|PMID:29595810|PMID:29607586|PMID:29616089|PMID:29748190|PMID:29790589|PMID:29891534|PMID:29949369|PMID:29978187|PMID:30042107|PMID:30093976|PMID:30105105|PMID:30185211|PMID:30338240|PMID:30877234|PMID:30943211|PMID:30946460|PMID:31034483|PMID:31132167|PMID:31149315|PMID:31159747|PMID:31337753|PMID:31383958|PMID:31397861|PMID:31528828|PMID:31779674|PMID:32106822|PMID:32238909|PMID:32671223|PMID:33362715|PMID:34439168|PMID:7553625|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7759077|PMID:7784063|PMID:7915601|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8187067|PMID:8270255|PMID:8493574|PMID:8522307|PMID:8550742|PMID:8592333|PMID:8634692|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8825918|PMID:8825919|PMID:8829648|PMID:8863170|PMID:8956040|PMID:9058738|PMID:9143408|PMID:9156047|PMID:9215674|PMID:9398721|PMID:9399847|PMID:9435426|PMID:9452032|PMID:9452106|PMID:9463336|PMID:9536098|PMID:9663592|PMID:9671762|PMID:9681856|PMID:9751722|PMID:9770531|PMID:9829911|PMID:9829912|PMID:9880225 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737311 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10088816|PMID:10102622|PMID:10340905|PMID:10364675|PMID:10408776|PMID:10458336|PMID:1056348|PMID:10563480|PMID:10567493|PMID:10570625|PMID:10581162|PMID:10587522|PMID:10612827|PMID:10697963|PMID:10761708|PMID:10766184|PMID:10823831|PMID:10862095|PMID:10878807|PMID:10900011|PMID:11058902|PMID:11106358|PMID:11160785|PMID:11257211|PMID:11309459|PMID:11331612|PMID:11331613|PMID:11409863|PMID:11483638|PMID:11505222|PMID:11688398|PMID:11709017|PMID:11739384|PMID:11793370|PMID:11921283|PMID:11987242|PMID:12000816|PMID:12004076|PMID:12050673|PMID:12114495|PMID:12202531|PMID:12351569|PMID:12393546|PMID:12414898|PMID:12415268|PMID:12510195|PMID:12538644|PMID:12624160|PMID:12629069|PMID:12702509|PMID:12807974|PMID:12844285|PMID:12912922|PMID:14500403|PMID:14556007|PMID:14604959|PMID:14636579|PMID:14722919|PMID:14726398|PMID:14767570|PMID:14965365|PMID:14973063|PMID:15109448|PMID:15177666|PMID:15300849|PMID:15574766|PMID:15607616|PMID:15611064|PMID:15642664|PMID:15642680|PMID:15824109|PMID:15932632|PMID:16142346|PMID:16210343|PMID:16261165|PMID:16314641|PMID:16452184|PMID:16488999|PMID:16502427|PMID:16505488|PMID:16595991|PMID:16775032|PMID:16809612|PMID:16847331|PMID:16884327|PMID:16952288|PMID:16969113|PMID:17024664|PMID:17102069|PMID:17102082|PMID:17102088|PMID:17264095|PMID:17350623|PMID:17392848|PMID:17406817|PMID:17407064|PMID:17526729|PMID:17537157|PMID:17576681|PMID:17640059|PMID:17661816|PMID:17688370|PMID:17906660|PMID:17992257|PMID:17997830|PMID:18205710|PMID:18209888|PMID:18446368|PMID:18544564|PMID:18551016|PMID:18567581|PMID:18580449|PMID:18584357|PMID:18676741|PMID:18685280|PMID:18836774|PMID:19009041|PMID:19029228|PMID:19030229|PMID:19215943|PMID:19228690|PMID:19252526|PMID:19270817|PMID:19280651|PMID:19304954|PMID:19336503|PMID:19408298|PMID:19464396|PMID:19494350|PMID:19574279|PMID:19576851|PMID:19602254|PMID:19620968|PMID:19694021|PMID:19763184|PMID:19808854|PMID:19906784|PMID:19958924|PMID:19996202|PMID:20034980|PMID:20054297|PMID:20120764|PMID:20145706|PMID:20151405|PMID:20223044|PMID:20233476|PMID:20351605|PMID:20388653|PMID:20447124|PMID:20518900|PMID:20567917|PMID:20583150|PMID:20660572|PMID:20846682|PMID:20855504|PMID:20952280|PMID:21204227|PMID:21362373|PMID:21389259|PMID:21454469|PMID:21463266|PMID:21606165|PMID:21685897|PMID:21715564|PMID:21784903|PMID:21876117|PMID:21972040|PMID:21993671|PMID:22071692|PMID:22105611|PMID:22145147|PMID:22156657|PMID:22234250|PMID:22241717|PMID:22357542|PMID:22393103|PMID:22438210|PMID:22462637|PMID:22517557|PMID:22649785|PMID:22683710|PMID:22799452|PMID:22825683|PMID:23015148|PMID:23070752|PMID:23102223|PMID:23143947|PMID:23298237|PMID:23318261|PMID:23397066|PMID:23403324|PMID:23434161|PMID:23512077|PMID:23541568|PMID:23606570|PMID:23660872|PMID:23673869|PMID:23772956|PMID:23840444|PMID:23842656|PMID:23845641|PMID:23859443|PMID:23990664|PMID:23990666|PMID:24033266|PMID:24055113|PMID:24102379|PMID:24115288|PMID:24132471|PMID:24134185|PMID:24206762|PMID:24301059|PMID:24466223|PMID:24518179|PMID:24555745|PMID:24581539|PMID:24583008|PMID:24707167|PMID:24727139|PMID:24728327|PMID:24729484|PMID:24969085|PMID:24977658|PMID:25078357|PMID:25119015|PMID:25157968|PMID:25371412|PMID:25405498|PMID:25562111|PMID:25563310|PMID:25583177|PMID:25637381|PMID:25661653|PMID:25715769|PMID:25720320|PMID:25741868|PMID:25825477|PMID:25867206|PMID:25952756|PMID:25966224|PMID:25985138|PMID:26211615|PMID:26228213|PMID:26268347|PMID:26323595|PMID:26332594|PMID:26467025|PMID:26503325|PMID:26580448|PMID:26681312|PMID:26763786|PMID:26822237|PMID:26845104|PMID:27057652|PMID:27146957|PMID:27179072|PMID:27311873|PMID:27439424|PMID:27498913|PMID:27527340|PMID:27530247|PMID:27539324|PMID:27617348|PMID:27651169|PMID:27682873|PMID:27730413|PMID:27811160|PMID:28052007|PMID:28202063|PMID:28388566|PMID:28454591|PMID:28469506|PMID:28492532|PMID:28503092|PMID:28643803|PMID:28724667|PMID:28775317|PMID:28873162|PMID:28944243|PMID:29124493|PMID:29595810|PMID:29607586|PMID:29616089|PMID:29748190|PMID:29790589 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737311 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29891534|PMID:29949369|PMID:29978187|PMID:30042107|PMID:30093976|PMID:30105105|PMID:30185211|PMID:30338240|PMID:30877234|PMID:30943211|PMID:30946460|PMID:31034483|PMID:31132167|PMID:31149315|PMID:31159747|PMID:31337753|PMID:31350093|PMID:31368132|PMID:31383958|PMID:31397861|PMID:31528828|PMID:31779674|PMID:32106822|PMID:32238909|PMID:32671223|PMID:33362715|PMID:33720516|PMID:34439168|PMID:7553625|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7759077|PMID:7784063|PMID:7915601|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8187067|PMID:8270255|PMID:8493574|PMID:8522307|PMID:8550742|PMID:8592333|PMID:8634692|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8825918|PMID:8825919|PMID:8829648|PMID:8863170|PMID:8956040|PMID:9058738|PMID:9143408|PMID:9156047|PMID:9398721|PMID:9399847|PMID:9435426|PMID:9452032|PMID:9452106|PMID:9463336|PMID:9536098|PMID:9663592|PMID:9671762|PMID:9681856|PMID:9751722|PMID:9770531|PMID:9829911|PMID:9829912|PMID:9880225 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737311 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25885250|PMID:25952756|PMID:25966224|PMID:25985138|PMID:26211615|PMID:26228213|PMID:26268347|PMID:26323595|PMID:26332594|PMID:26467025|PMID:26503325|PMID:26580448|PMID:26622630|PMID:26681312|PMID:26763786|PMID:26822237|PMID:26845104|PMID:26920352|PMID:26934580|PMID:26957611|PMID:26973240|PMID:27034144|PMID:27057652|PMID:27146957|PMID:27179072|PMID:27311873|PMID:27439424|PMID:27498913|PMID:27527340|PMID:27530247|PMID:27539324|PMID:27617348|PMID:27651169|PMID:27682873|PMID:27730413|PMID:27785399|PMID:27811160|PMID:28052007|PMID:28202063|PMID:28288108|PMID:28388566|PMID:28432847|PMID:2844285|PMID:28454591|PMID:28469506|PMID:28492532|PMID:28503092|PMID:28643803|PMID:28724667|PMID:28775317|PMID:28849724|PMID:28873162|PMID:28944243|PMID:28951115|PMID:28973655|PMID:29022557|PMID:29124493|PMID:29294023|PMID:29595810|PMID:29607586|PMID:29616089|PMID:29625052|PMID:29662268|PMID:29684080|PMID:29748190|PMID:29790589|PMID:29891534|PMID:29946849|PMID:29949369|PMID:29978187|PMID:30006056|PMID:30042107|PMID:30093976|PMID:30105105|PMID:30185211|PMID:30194449|PMID:30338240|PMID:30522901|PMID:30548481|PMID:30877234|PMID:30902965|PMID:30943211|PMID:30946460|PMID:31034483|PMID:31087189|PMID:31132167|PMID:31149315|PMID:31159747|PMID:31337753|PMID:31350093|PMID:31368132|PMID:31383958|PMID:31397861|PMID:31447099|PMID:31453227|PMID:31528828|PMID:31538058|PMID:31620170|PMID:31666924|PMID:31779674|PMID:32106822|PMID:32238909|PMID:32303605|PMID:32671223|PMID:32869749|PMID:33151962|PMID:33219105|PMID:33362715|PMID:33720516|PMID:33840814|PMID:33938902|PMID:34109129|PMID:34416425|PMID:34439168|PMID:34566400|PMID:35734542|PMID:7553625|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7759077|PMID:7784063|PMID:7915601|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8187067|PMID:8239848|PMID:8270255|PMID:8493574|PMID:8522307|PMID:8550742|PMID:8592333|PMID:8634692|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8825918|PMID:8825919|PMID:8829648|PMID:8863170|PMID:8956040|PMID:9058738|PMID:9143408|PMID:9156047|PMID:9215674|PMID:9329368|PMID:9398721|PMID:9399847|PMID:9435426|PMID:9452032|PMID:9452106|PMID:9463336|PMID:9536098|PMID:9663592|PMID:9671762|PMID:9681856|PMID:9681858|PMID:9751722|PMID:9770531|PMID:9829911|PMID:9829912|PMID:9880225 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737311 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10088816|PMID:10102622|PMID:10205047|PMID:10340905|PMID:10364675|PMID:10408776|PMID:10458336|PMID:10533030|PMID:1056348|PMID:10563480|PMID:10567493|PMID:10570625|PMID:10581162|PMID:10587522|PMID:10612827|PMID:10612832|PMID:10627136|PMID:10697963|PMID:10761708|PMID:10766184|PMID:10823831|PMID:10862095|PMID:10878807|PMID:10900011|PMID:11058902|PMID:11106358|PMID:11114638|PMID:11160785|PMID:11257211|PMID:11309459|PMID:11331612|PMID:11331613|PMID:11409863|PMID:11483638|PMID:11505222|PMID:11688398|PMID:11709017|PMID:11739384|PMID:11793370|PMID:11865071|PMID:11896624|PMID:11921283|PMID:11986208|PMID:11987242|PMID:12000816|PMID:12004076|PMID:12050673|PMID:12114475|PMID:12114495|PMID:12202531|PMID:12351569|PMID:12393546|PMID:12414898|PMID:12415268|PMID:12500216|PMID:12510195|PMID:12538644|PMID:12603429|PMID:12624160|PMID:12629069|PMID:12702509|PMID:12807974|PMID:12844285|PMID:12912922|PMID:13985160|PMID:14500403|PMID:14556007|PMID:14604959|PMID:14636579|PMID:14722919|PMID:14726398|PMID:14767570|PMID:14965365|PMID:14973063|PMID:15109448|PMID:15177666|PMID:15241800|PMID:15300849|PMID:15574766|PMID:15607616|PMID:15611064|PMID:15642664|PMID:15642680|PMID:15709172|PMID:15824109|PMID:15881703|PMID:15921368|PMID:15921386|PMID:15932632|PMID:16142346|PMID:16210343|PMID:16261165|PMID:16314641|PMID:16452184|PMID:16488999|PMID:16502427|PMID:16505488|PMID:16595991|PMID:16669786|PMID:16775032|PMID:16809612|PMID:16847331|PMID:16868829|PMID:16884327|PMID:16952288|PMID:16969113|PMID:17024664|PMID:17102069|PMID:17102080|PMID:17102082|PMID:17102087|PMID:17102088|PMID:17159241|PMID:17264095|PMID:17350623|PMID:17392848|PMID:17406817|PMID:17407064|PMID:17526729|PMID:17537157|PMID:17576681|PMID:17640059|PMID:17661816|PMID:17688370|PMID:17906660|PMID:17922902|PMID:17992257|PMID:17997830|PMID:18067796|PMID:18195360|PMID:18205710|PMID:18209888|PMID:18446368|PMID:18544564|PMID:18551016|PMID:18567581|PMID:18580449|PMID:18584357|PMID:18676741|PMID:18685280|PMID:18836774|PMID:18928468|PMID:19009041|PMID:19029228|PMID:19030229|PMID:19215943|PMID:19228690|PMID:19252526|PMID:19270817|PMID:19280651|PMID:19304954|PMID:19336503|PMID:19408298|PMID:19464396|PMID:19494350|PMID:19558618|PMID:19574279|PMID:19576851|PMID:19602254|PMID:19620968|PMID:19694021|PMID:19763184|PMID:19808854|PMID:19906784|PMID:19949673|PMID:19958924|PMID:19996202|PMID:20034980|PMID:20054297|PMID:20064270|PMID:20120764|PMID:20145706|PMID:20151405|PMID:20223044|PMID:20233476|PMID:20351605|PMID:20388653|PMID:20447124|PMID:20518900|PMID:20560986|PMID:20567917|PMID:20583150|PMID:20660572|PMID:20846682|PMID:20855504|PMID:20952280|PMID:21204227|PMID:21362373|PMID:21389259|PMID:21449869|PMID:21454469|PMID:21463266|PMID:21606165|PMID:21685897|PMID:21713522|PMID:21715564|PMID:21784903|PMID:21791076|PMID:21876117|PMID:21972040|PMID:21993671|PMID:22071692|PMID:22105611|PMID:22105711|PMID:22145147|PMID:22156657|PMID:22234250|PMID:22241717|PMID:22357542|PMID:22393103|PMID:22438210|PMID:22462637|PMID:22517557|PMID:22649785|PMID:22683710|PMID:22703879|PMID:22799452|PMID:22825683|PMID:23015148|PMID:23056405|PMID:23070752|PMID:23102223|PMID:23143947|PMID:23298237|PMID:23318261|PMID:23327821|PMID:23384228|PMID:23397066|PMID:23403324|PMID:23407919|PMID:23434161|PMID:23512077|PMID:23541568|PMID:23606570|PMID:23626751|PMID:23660872|PMID:23673869|PMID:23772956|PMID:23840444|PMID:23842656|PMID:23845641|PMID:23859443|PMID:23990664|PMID:23990666|PMID:24002598|PMID:24033266|PMID:24055113|PMID:24102379|PMID:24115288|PMID:24132471|PMID:24134185|PMID:24147197|PMID:24206762|PMID:24301059|PMID:24335534|PMID:24339559|PMID:24466223|PMID:24518179|PMID:24555745|PMID:24581539|PMID:24583008|PMID:24707167|PMID:24727139|PMID:24728327|PMID:24729484|PMID:24969085|PMID:24977658|PMID:24986515|PMID:25069792|PMID:25078357|PMID:25119015|PMID:25157968|PMID:25282218|PMID:25310726|PMID:25371412|PMID:25405498|PMID:25562111|PMID:25563310|PMID:25583177|PMID:25586603|PMID:25637381|PMID:25661653|PMID:25715769|PMID:25720320|PMID:25741868 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737311 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25825477|PMID:25867206|PMID:25885250|PMID:25952756|PMID:25966224|PMID:25985138|PMID:26211615|PMID:26228213|PMID:26268347|PMID:26323595|PMID:26332594|PMID:26467025|PMID:26503325|PMID:26580448|PMID:26622630|PMID:26681312|PMID:26763786|PMID:26822237|PMID:26845104|PMID:26920352|PMID:26934580|PMID:26957611|PMID:26973240|PMID:27034144|PMID:27057652|PMID:27146957|PMID:27179072|PMID:27311873|PMID:27439424|PMID:27498913|PMID:27527340|PMID:27530247|PMID:27539324|PMID:27617348|PMID:27651169|PMID:27682873|PMID:27730413|PMID:27785399|PMID:27811160|PMID:28052007|PMID:28202063|PMID:28288108|PMID:28388566|PMID:28432847|PMID:2844285|PMID:28454591|PMID:28469506|PMID:28492532|PMID:28503092|PMID:28643803|PMID:28650583|PMID:28724667|PMID:28775317|PMID:28849724|PMID:28873162|PMID:28944243|PMID:28951115|PMID:28973655|PMID:29022557|PMID:29124493|PMID:29294023|PMID:29595810|PMID:29607586|PMID:29616089|PMID:29625052|PMID:29662268|PMID:29684080|PMID:29748190|PMID:29749453|PMID:29790589|PMID:29891534|PMID:29946849|PMID:29949369|PMID:29978187|PMID:30006056|PMID:30042107|PMID:30093976|PMID:30105105|PMID:30185211|PMID:30194449|PMID:30278534|PMID:30338240|PMID:30522901|PMID:30548481|PMID:30877234|PMID:30902965|PMID:30943211|PMID:30946460|PMID:31034483|PMID:31087189|PMID:31132167|PMID:31149315|PMID:31159747|PMID:31337753|PMID:31350093|PMID:31368132|PMID:31383958|PMID:31397861|PMID:31447099|PMID:31453227|PMID:31528828|PMID:31538058|PMID:31620170|PMID:31666924|PMID:31779674|PMID:32106822|PMID:32238909|PMID:32303605|PMID:32671223|PMID:32869749|PMID:33151962|PMID:33219105|PMID:33362715|PMID:33720516|PMID:33840814|PMID:33938902|PMID:34036514|PMID:34109129|PMID:34416425|PMID:34439168|PMID:34566400|PMID:35008334|PMID:35734542|PMID:36281577|PMID:7553625|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7759077|PMID:7784063|PMID:7915601|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8187067|PMID:8239848|PMID:8270255|PMID:8493574|PMID:8522307|PMID:8550742|PMID:8592333|PMID:8634692|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8825918|PMID:8825919|PMID:8829648|PMID:8863170|PMID:8956040|PMID:9058738|PMID:9143408|PMID:9156047|PMID:9215674|PMID:9329368|PMID:9398721|PMID:9399847|PMID:9435426|PMID:9452032|PMID:9452106|PMID:9463336|PMID:9536098|PMID:9663592|PMID:9671762|PMID:9681856|PMID:9681858|PMID:9751722|PMID:9770531|PMID:9829911|PMID:9829912|PMID:9880225 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:9008952 Breast Cancer, Familial ISO RGD:737311 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:10567493|PMID:10761708|PMID:11106358|PMID:11739384|PMID:12414898|PMID:19228690|PMID:19906784|PMID:20447124|PMID:22234250|PMID:23990664|PMID:23990666|PMID:24033266|PMID:25157968|PMID:25637381|PMID:25741868|PMID:27527340|PMID:28492532|PMID:28503092|PMID:29790589|PMID:30877234|PMID:7563486|PMID:8634692|PMID:8707293|PMID:8772572|PMID:8956040|PMID:9829911 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:737311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:25516202|PMID:28492532 11927588 VHL von Hippel-Lindau tumor suppressor gene DOID:9970 obesity ISO RGD:737311 D RGD:9068941 20230202 RGD associated with hepatocellular carcinoma;RNA:decreased expression:liver: PMID:31321740|REF_RGD_ID:155882550 11927598 NANP N-acetylneuraminic acid phosphatase gene DOID:630 genetic disease ISO RGD:1345004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927604 PPP1R12A protein phosphatase 1 regulatory subunit 12A gene DOID:0111223 centronuclear myopathy 1 ISO RGD:1350163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 3 PMID:28492532 11927604 PPP1R12A protein phosphatase 1 regulatory subunit 12A gene DOID:630 genetic disease ISO RGD:1350163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11927604 PPP1R12A protein phosphatase 1 regulatory subunit 12A gene DOID:9006721 GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME ISO RGD:1350163 D RGD:7240710 20200715 OMIM 11927604 PPP1R12A protein phosphatase 1 regulatory subunit 12A gene DOID:9006721 GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME ISO RGD:1350163 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Genitourinary and/or brain malformation syndrome PMID:25741868|PMID:28492532|PMID:31349857|PMID:31883643 11927642 CCDC86 coiled-coil domain containing 86 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1604295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23828858 11927642 CCDC86 coiled-coil domain containing 86 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1604295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11927642 CCDC86 coiled-coil domain containing 86 gene DOID:1059 intellectual disability ISO RGD:1604295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11927642 CCDC86 coiled-coil domain containing 86 gene DOID:630 genetic disease ISO RGD:1604295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927650 FOXP3 forkhead box P3 gene DOID:0050200 Korean hemorrhagic fever ISO RGD:1562112 D RGD:9068941 20200910 RGD mRNA:increased expression:lung PMID:17878294|REF_RGD_ID:2325989 11927650 FOXP3 forkhead box P3 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1348507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23962110 11927650 FOXP3 forkhead box P3 gene DOID:0050523 adult T-cell leukemia/lymphoma disease_progression ISO RGD:1348507 D RGD:9068941 20200813 RGD PMID:23797717|REF_RGD_ID:38456007 11927650 FOXP3 forkhead box P3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11927650 FOXP3 forkhead box P3 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1348507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:24258212|PMID:25741868|PMID:28492532 11927650 FOXP3 forkhead box P3 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1348507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 11927650 FOXP3 forkhead box P3 gene DOID:0081267 graft-versus-host disease treatment ISO RGD:1562112 D RGD:9068941 20200910 RGD PMID:22344929|REF_RGD_ID:38599140 11927650 FOXP3 forkhead box P3 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1348507 D RGD:7240710 20180130 OMIM 11927650 FOXP3 forkhead box P3 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1348507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:10706361|PMID:11120765|PMID:11137992|PMID:11137993|PMID:11295725|PMID:11768393|PMID:12161590|PMID:14671208|PMID:15096376|PMID:16199547|PMID:16630773|PMID:16741580|PMID:16920951|PMID:17576681|PMID:17586580|PMID:17635943|PMID:18414213|PMID:18795917|PMID:18820676|PMID:18931102|PMID:18951619|PMID:19189134|PMID:19471859|PMID:19633572|PMID:20537998|PMID:20650610|PMID:21036387|PMID:22000569|PMID:22581967|PMID:22590469|PMID:23313429|PMID:24033266|PMID:24250806|PMID:24258212|PMID:24792626|PMID:24916357|PMID:24982679|PMID:25326164|PMID:25363768|PMID:25546394|PMID:25741868|PMID:25911531|PMID:26467025|PMID:26661331|PMID:26748374|PMID:26748735|PMID:27167055|PMID:28289675|PMID:28492532|PMID:28778586|PMID:28783662|PMID:28993341|PMID:29193502|PMID:29241729|PMID:29896738|PMID:29907148|PMID:30191644|PMID:30293990|PMID:30385752|PMID:30443250|PMID:30510991|PMID:30805323|PMID:30894704|PMID:31027649|PMID:31130284|PMID:31990476|PMID:32279225|PMID:32531870|PMID:33046911|PMID:33194927|PMID:33523441|PMID:33637067|PMID:33833438|PMID:34216291|PMID:9536098 11927650 FOXP3 forkhead box P3 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1348507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11927650 FOXP3 forkhead box P3 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1348507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11927650 FOXP3 forkhead box P3 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1348507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 11927650 FOXP3 forkhead box P3 gene DOID:106 pleural tuberculosis disease_progression ISO RGD:1348507 D RGD:9068941 20200806 RGD associated with human immunodeficiency virus infectious disease; PMID:21303360|REF_RGD_ID:36947878 11927650 FOXP3 forkhead box P3 gene DOID:10763 hypertension treatment ISO RGD:1562112 D RGD:9068941 20200831 RGD PMID:24420551|REF_RGD_ID:38549366 11927650 FOXP3 forkhead box P3 gene DOID:11166 papillomavirus infectious disease susceptibility ISO RGD:1348507 D RGD:9068941 20200820 RGD DNA:SNP::rs3761548(human) PMID:31177386|REF_RGD_ID:38501104 11927650 FOXP3 forkhead box P3 gene DOID:11168 anogenital venereal wart ISO RGD:1348507 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 11927650 FOXP3 forkhead box P3 gene DOID:11263 chlamydia treatment ISO RGD:1348507 D RGD:9068941 20200807 RGD PMID:30832593|REF_RGD_ID:38455984 11927650 FOXP3 forkhead box P3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1348507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11927650 FOXP3 forkhead box P3 gene DOID:1205 allergic disease ISO RGD:1348507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27965764 11927650 FOXP3 forkhead box P3 gene DOID:12236 primary biliary cholangitis ISO RGD:1348507 D RGD:9068941 20200820 RGD mRNA:increased expression:liver PMID:17158635|REF_RGD_ID:38501106 11927650 FOXP3 forkhead box P3 gene DOID:12365 malaria ISO RGD:1348507 D RGD:9068941 20200807 RGD PMID:19338000|REF_RGD_ID:38455985 11927650 FOXP3 forkhead box P3 gene DOID:12365 malaria disease_progression ISO RGD:1348507 D RGD:9068941 20200807 RGD PMID:16169501|REF_RGD_ID:38455992 11927650 FOXP3 forkhead box P3 gene DOID:12849 autistic disorder ISO RGD:1348507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11927650 FOXP3 forkhead box P3 gene DOID:1459 hypothyroidism treatment ISO RGD:1562112 D RGD:9068941 20200903 RGD PMID:29896255|REF_RGD_ID:38549578 11927650 FOXP3 forkhead box P3 gene DOID:1883 hepatitis C ISO RGD:1348507 D RGD:9068941 20200813 RGD mRNA:increased expression:liver PMID:17414718|REF_RGD_ID:38456005 11927650 FOXP3 forkhead box P3 gene DOID:2043 hepatitis B ISO RGD:1348507 D RGD:9068941 20200827 RGD associated with hepatocellular carcinoma; protein:increased expression:liver PMID:21086571|REF_RGD_ID:38548919 11927650 FOXP3 forkhead box P3 gene DOID:2355 anemia ISO RGD:1348507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia PMID:25741868 11927650 FOXP3 forkhead box P3 gene DOID:2723 dermatitis ISO RGD:1557838 D RGD:9068941 20200831 RGD PMID:22466646|REF_RGD_ID:38549359 11927650 FOXP3 forkhead box P3 gene DOID:2799 bronchiolitis obliterans ISO RGD:1562112 D RGD:9068941 20200910 RGD mRNA:increased expression:lung PMID:19840961|REF_RGD_ID:4889978 11927650 FOXP3 forkhead box P3 gene DOID:2841 asthma ISO RGD:1348507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27965764|PMID:29317916 11927650 FOXP3 forkhead box P3 gene DOID:2841 asthma treatment ISO RGD:1557838 D RGD:9068941 20200827 RGD PMID:27633092|REF_RGD_ID:38548920 11927650 FOXP3 forkhead box P3 gene DOID:2841 asthma treatment ISO RGD:1562112 D RGD:9068941 20200831 RGD PMID:28944907|REF_RGD_ID:38549365 11927650 FOXP3 forkhead box P3 gene DOID:289 endometriosis severity ISO RGD:1348507 D RGD:9068941 20200820 RGD PMID:22541024|REF_RGD_ID:38501099 11927650 FOXP3 forkhead box P3 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1348507 D RGD:9068941 20200820 RGD DNA:polymorphism:promoter:-924A>G(human) PMID:29020928|REF_RGD_ID:38501101 11927650 FOXP3 forkhead box P3 gene DOID:321 tropical spastic paraparesis ISO RGD:1348507 D RGD:9068941 20200831 RGD mRNA:decreased expression: T cell PMID:20945034|REF_RGD_ID:38549361 11927650 FOXP3 forkhead box P3 gene DOID:321 tropical spastic paraparesis disease_progression ISO RGD:1348507 D RGD:9068941 20200813 RGD PMID:28101786|REF_RGD_ID:38456004 11927650 FOXP3 forkhead box P3 gene DOID:3298 vaccinia ISO RGD:1557838 D RGD:9068941 20200806 RGD PMID:20548030|REF_RGD_ID:36947870 11927650 FOXP3 forkhead box P3 gene DOID:3744 cervical squamous cell carcinoma severity ISO RGD:1348507 D RGD:9068941 20200807 RGD PMID:28086903|REF_RGD_ID:38455996 11927650 FOXP3 forkhead box P3 gene DOID:401 multidrug-resistant tuberculosis ISO RGD:1348507 D RGD:9068941 20200813 RGD mRNA:increased expression:peripheral blood: PMID:25483347|REF_RGD_ID:38456003 11927650 FOXP3 forkhead box P3 gene DOID:4166 syphilis treatment ISO RGD:1348507 D RGD:9068941 20200813 RGD PMID:27284313|REF_RGD_ID:38456006 11927650 FOXP3 forkhead box P3 gene DOID:4404 occupational dermatitis ISO RGD:1348507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29477354 11927650 FOXP3 forkhead box P3 gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:1562112 D RGD:9068941 20200910 RGD DNA:hypomethylation:liver PMID:24291052|REF_RGD_ID:38599002 11927650 FOXP3 forkhead box P3 gene DOID:630 genetic disease ISO RGD:1348507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11927650 FOXP3 forkhead box P3 gene DOID:684 hepatocellular carcinoma ISO RGD:1348507 D RGD:9068941 20200827 RGD protein:increased expression:liver PMID:21086571|REF_RGD_ID:38548919 11927650 FOXP3 forkhead box P3 gene DOID:7148 rheumatoid arthritis ISO RGD:1348507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20476861 11927650 FOXP3 forkhead box P3 gene DOID:8568 infectious mononucleosis disease_progression ISO RGD:1348507 D RGD:9068941 20200820 RGD PMID:23628056|REF_RGD_ID:38501103 11927650 FOXP3 forkhead box P3 gene DOID:874 bacterial pneumonia severity ISO RGD:1557838 D RGD:9068941 20200820 RGD PMID:25398094|REF_RGD_ID:38501102 11927650 FOXP3 forkhead box P3 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1562112 D RGD:9068941 20200903 RGD PMID:30287503|REF_RGD_ID:38549580 11927650 FOXP3 forkhead box P3 gene DOID:9000099 Experimental Colitis ISO RGD:1557838 D RGD:9068941 20200807 RGD protein:increased expression:colon: PMID:17229795|REF_RGD_ID:38455995 11927650 FOXP3 forkhead box P3 gene DOID:9000099 Experimental Colitis ISO RGD:1557838 D RGD:9068941 20200831 RGD mRNA:increased expression:mucosa: PMID:27498708|REF_RGD_ID:14975101 11927650 FOXP3 forkhead box P3 gene DOID:9000099 Experimental Colitis treatment ISO RGD:1557838 D RGD:9068941 20200807 RGD PMID:26925602|REF_RGD_ID:38455994 11927650 FOXP3 forkhead box P3 gene DOID:9000099 Experimental Colitis treatment ISO RGD:1562112 D RGD:9068941 20200831 RGD PMID:28733028|REF_RGD_ID:38549362 11927650 FOXP3 forkhead box P3 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1348507 D RGD:9068941 20200831 RGD mRNA,protein:increased expression:peripheral blood mononuclear cell, liver: PMID:21489307|REF_RGD_ID:38549358 11927650 FOXP3 forkhead box P3 gene DOID:9000310 Lung Injury ISO RGD:1348507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28630656 11927650 FOXP3 forkhead box P3 gene DOID:9000509 Epstein-Barr Virus Infections susceptibility ISO RGD:1348507 D RGD:9068941 20200827 RGD associated with adult T-cell leukemia; PMID:18246047|REF_RGD_ID:38548918 11927650 FOXP3 forkhead box P3 gene DOID:9001099 Hydranencephaly with Renal Aplasia-Dysplasia ISO RGD:1348507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydranencephaly with renal aplasia-dysplasia PMID:25741868 11927650 FOXP3 forkhead box P3 gene DOID:9002311 Experimental Autoimmune Myocarditis severity ISO RGD:1562112 D RGD:9068941 20200903 RGD PMID:28892130|REF_RGD_ID:38549573 11927650 FOXP3 forkhead box P3 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:1562112 D RGD:9068941 20200910 RGD PMID:19907173|REF_RGD_ID:13702882 11927650 FOXP3 forkhead box P3 gene DOID:9002457 Experimental Arthritis ISO RGD:1562112 D RGD:9068941 20200910 RGD mRNA,protein:decreased expression:lung PMID:23643080|REF_RGD_ID:38599003 11927650 FOXP3 forkhead box P3 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1562112 D RGD:9068941 20200831 RGD PMID:29264841|REF_RGD_ID:38549364 11927650 FOXP3 forkhead box P3 gene DOID:9002780 Recurrent Respiratory Papillomatosis susceptibility ISO RGD:1348507 D RGD:9068941 20200831 RGD DNA:SNPs:promoter:rs5902434,rs2232365 (human) PMID:28298239|REF_RGD_ID:38549360 11927650 FOXP3 forkhead box P3 gene DOID:9003040 Squamous Intraepithelial Lesions of the Cervix severity ISO RGD:1348507 D RGD:9068941 20200820 RGD DNA:SNP::rs3761548(human) PMID:31177386|REF_RGD_ID:38501104 11927650 FOXP3 forkhead box P3 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1348507 D RGD:9068941 20200827 RGD PMID:18673437|REF_RGD_ID:38548921 11927650 FOXP3 forkhead box P3 gene DOID:9004283 Transplant Rejection ISO RGD:1348507 D RGD:9068941 20200813 RGD mRNA:increased expression:liver PMID:17414718|REF_RGD_ID:38456005 11927650 FOXP3 forkhead box P3 gene DOID:9004283 Transplant Rejection ISO RGD:1557838 D RGD:9068941 20200910 RGD PMID:21199671|REF_RGD_ID:38599144 11927650 FOXP3 forkhead box P3 gene DOID:9004283 Transplant Rejection treatment ISO RGD:1557838 D RGD:9068941 20200903 RGD PMID:28457422|REF_RGD_ID:38549577 11927650 FOXP3 forkhead box P3 gene DOID:9004484 Sepsis severity ISO RGD:1348507 D RGD:9068941 20200806 RGD PMID:25403265|REF_RGD_ID:38455982 11927650 FOXP3 forkhead box P3 gene DOID:9004656 Airway Remodeling treatment ISO RGD:1557838 D RGD:9068941 20200827 RGD PMID:27633092|REF_RGD_ID:38548920 11927650 FOXP3 forkhead box P3 gene DOID:9005106 Animal Toxoplasmosis ISO RGD:1557838 D RGD:9068941 20200820 RGD mRNA:decreased expression:placenta: PMID:21923716|REF_RGD_ID:38501105 11927650 FOXP3 forkhead box P3 gene DOID:9005172 Lung Neoplasms ISO RGD:1348507 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:34166680 11927650 FOXP3 forkhead box P3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1562112 D RGD:9068941 20200910 RGD mRNA,protein:increased expression: peripheral blood, spleen, lymphoid node PMID:18328191|REF_RGD_ID:38599142 11927650 FOXP3 forkhead box P3 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:1562112 D RGD:9068941 20200910 RGD PMID:32341701|REF_RGD_ID:38599143 11927650 FOXP3 forkhead box P3 gene DOID:9005930 Endotoxemia ISO RGD:1562112 D RGD:9068941 20200806 RGD protein:increased expression:intestinal mucosa PMID:19998507|REF_RGD_ID:38455980 11927650 FOXP3 forkhead box P3 gene DOID:9005968 Neuralgia ISO RGD:1562112 D RGD:9068941 20200910 RGD mRNA:increased expression: L4-L5 of the spinal cord PMID:30858084|REF_RGD_ID:38599004 11927650 FOXP3 forkhead box P3 gene DOID:9005968 Neuralgia treatment ISO RGD:1557838 D RGD:9068941 20200910 RGD PMID:30858084|REF_RGD_ID:38599004 11927650 FOXP3 forkhead box P3 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:1562112 D RGD:9068941 20200903 RGD protein:decreased expression:sciatic nerve PMID:30464413|REF_RGD_ID:38549576 11927650 FOXP3 forkhead box P3 gene DOID:9007204 Dysbiosis treatment ISO RGD:1562112 D RGD:9068941 20200903 RGD PMID:32227764|REF_RGD_ID:38549571 11927650 FOXP3 forkhead box P3 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1348507 D RGD:9068941 20200827 RGD PMID:18673437|REF_RGD_ID:38548921 11927650 FOXP3 forkhead box P3 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1348507 D RGD:9068941 20200831 RGD mRNA,protein:increased expression:peripheral blood mononuclear cell, liver: PMID:21489307|REF_RGD_ID:38549358 11927650 FOXP3 forkhead box P3 gene DOID:9008386 Hydrops Fetalis ISO RGD:1348507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydrops fetalis PMID:11137992|PMID:11295725|PMID:16920951|PMID:22590469|PMID:25546394|PMID:25741868|PMID:28492532|PMID:28778586|PMID:28783662|PMID:30293990|PMID:30443250|PMID:31130284|PMID:33637067 11927650 FOXP3 forkhead box P3 gene DOID:9008861 Wound Infection severity ISO RGD:1562112 D RGD:9068941 20200910 RGD associated with Pseudomonas aeruginosa infection;mRNA:increased expression:wound fluid: PMID:22141756|REF_RGD_ID:38599139 11927650 FOXP3 forkhead box P3 gene DOID:9008939 Breast Neoplasms ISO RGD:1348507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17570480 11927650 FOXP3 forkhead box P3 gene DOID:9111 cutaneous leishmaniasis ISO RGD:1348507 D RGD:9068941 20200806 RGD mRNA:increased expression:Peripheral blood mononuclear cell: PMID:29205403|REF_RGD_ID:38455981 11927650 FOXP3 forkhead box P3 gene DOID:9169 Wiskott-Aldrich syndrome ISO RGD:1557838 D RGD:9068941 20220825 MouseDO OMIM:301000 | OMIM:614493 11927650 FOXP3 forkhead box P3 gene DOID:9256 colorectal cancer ISO RGD:1348507 D RGD:9068941 20200910 RGD DNA:hypomethylation:colorectum PMID:24291052|REF_RGD_ID:38599002 11927650 FOXP3 forkhead box P3 gene DOID:9351 diabetes mellitus ISO RGD:1348507 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:11137993|PMID:23313429|PMID:25741868|PMID:28492532|PMID:29193502|PMID:33194927|PMID:33523441 11927650 FOXP3 forkhead box P3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1348507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 1 PMID:25741868 11927650 FOXP3 forkhead box P3 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1348507 D RGD:9068941 20200609 RGD associated with Autoimmune Diseases;DNA:mutations: :multiple (human) PMID:11137992|REF_RGD_ID:1598959 11927667 COL14A1 collagen type XIV alpha 1 chain gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1314064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11927667 COL14A1 collagen type XIV alpha 1 chain gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1314064 D RGD:9068941 20220331 RGD DNA:hypermethylation PMID:25050929|REF_RGD_ID:151665741 11927667 COL14A1 collagen type XIV alpha 1 chain gene DOID:630 genetic disease ISO RGD:1314064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927667 COL14A1 collagen type XIV alpha 1 chain gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1314064 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11927720 XRCC4 X-ray repair cross complementing 4 gene DOID:0050904 salivary gland carcinoma sexual_dimorphism ISO RGD:1353234 D RGD:9068941 20220303 RGD DNA:SNP:intron: (rs13180356) (human) PMID:26035306|REF_RGD_ID:151361290 11927720 XRCC4 X-ray repair cross complementing 4 gene DOID:0060873 isolated growth hormone deficiency type IA ISO RGD:1353234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary dwarfism 1 PMID:24389050|PMID:25558065|PMID:25728776|PMID:25741868|PMID:26255102 11927720 XRCC4 X-ray repair cross complementing 4 gene DOID:4866 salivary gland adenoid cystic carcinoma susceptibility ISO RGD:1353234 D RGD:9068941 20220303 RGD DNA:SNP:intron: (rs13180356) (human) PMID:26035306|REF_RGD_ID:151361290 11927720 XRCC4 X-ray repair cross complementing 4 gene DOID:630 genetic disease ISO RGD:1353234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927720 XRCC4 X-ray repair cross complementing 4 gene DOID:9002620 SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION ISO RGD:1353234 D RGD:7240710 20180130 OMIM 11927720 XRCC4 X-ray repair cross complementing 4 gene DOID:9002620 SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION ISO RGD:1353234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature, microcephaly, and endocrine dysfunction PMID:18695064|PMID:24033266|PMID:24389050|PMID:25558065|PMID:25728776|PMID:25741868|PMID:25742519|PMID:25839420|PMID:25872942|PMID:26255102|PMID:26822949|PMID:28492532 11927720 XRCC4 X-ray repair cross complementing 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11927720 XRCC4 X-ray repair cross complementing 4 gene DOID:9004814 Chromosome Aberrations ISO RGD:1353234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20726224 11927720 XRCC4 X-ray repair cross complementing 4 gene DOID:9538 multiple myeloma susceptibility ISO RGD:1353234 D RGD:9068941 20200609 RGD DNA:SNPs:multiple (human) PMID:17901044|REF_RGD_ID:8698655 11927735 SLC9A1 solute carrier family 9 member A1 gene DOID:0080065 autosomal recessive spinocerebellar ataxia 19 ISO RGD:736585 D RGD:7240710 20180130 OMIM 11927735 SLC9A1 solute carrier family 9 member A1 gene DOID:0080065 autosomal recessive spinocerebellar ataxia 19 ISO RGD:736585 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lichtenstein-Knorr syndrome PMID:25205112|PMID:25741868|PMID:28492532|PMID:30018422 11927735 SLC9A1 solute carrier family 9 member A1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19111554 11927735 SLC9A1 solute carrier family 9 member A1 gene DOID:1459 hypothyroidism ISO RGD:3718 D RGD:9068941 20200609 RGD protein:decreased expression:heart, microsome PMID:12039959|REF_RGD_ID:625494 11927735 SLC9A1 solute carrier family 9 member A1 gene DOID:1591 renovascular hypertension treatment ISO RGD:3718 D RGD:9068941 20200609 RGD PMID:12218313|REF_RGD_ID:727424 11927735 SLC9A1 solute carrier family 9 member A1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3718 D RGD:9068941 20200609 RGD PMID:31250553|REF_RGD_ID:14985213 11927735 SLC9A1 solute carrier family 9 member A1 gene DOID:576 proteinuria ISO RGD:3718 D RGD:9068941 20200609 RGD PMID:31250553|REF_RGD_ID:14985213 11927735 SLC9A1 solute carrier family 9 member A1 gene DOID:6000 congestive heart failure ISO RGD:736585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19027022 11927735 SLC9A1 solute carrier family 9 member A1 gene DOID:6000 congestive heart failure ISO RGD:736585 D RGD:9068941 20200609 RGD PMID:18776042|REF_RGD_ID:6771337 11927735 SLC9A1 solute carrier family 9 member A1 gene DOID:630 genetic disease ISO RGD:736585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:30018422 11927735 SLC9A1 solute carrier family 9 member A1 gene DOID:7998 hyperthyroidism ISO RGD:3718 D RGD:9068941 20200609 RGD protein:increased expression:heart, microsome PMID:12039959|REF_RGD_ID:625494 11927735 SLC9A1 solute carrier family 9 member A1 gene DOID:83 cataract ISO RGD:3718 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22407349|REF_RGD_ID:8693684 11927735 SLC9A1 solute carrier family 9 member A1 gene DOID:9000197 Edema ISO RGD:736585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20553904 11927735 SLC9A1 solute carrier family 9 member A1 gene DOID:9000641 Pain ISO RGD:736585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19248819 11927735 SLC9A1 solute carrier family 9 member A1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:3718 D RGD:9068941 20200609 RGD PMID:19384202|REF_RGD_ID:6771334 11927735 SLC9A1 solute carrier family 9 member A1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:736585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17724433 11927735 SLC9A1 solute carrier family 9 member A1 gene DOID:9002661 Diabetes Complications ISO RGD:3718 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18057998|REF_RGD_ID:6771339 11927735 SLC9A1 solute carrier family 9 member A1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:3718 D RGD:9068941 20200609 RGD PMID:20883671|REF_RGD_ID:6771331 11927735 SLC9A1 solute carrier family 9 member A1 gene DOID:9004009 Reperfusion Injury ISO RGD:3718 D RGD:9068941 20200609 RGD PMID:20337040|REF_RGD_ID:6771332 11927735 SLC9A1 solute carrier family 9 member A1 gene DOID:9004009 Reperfusion Injury ISO RGD:736585 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19027022 11927735 SLC9A1 solute carrier family 9 member A1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3718 D RGD:9068941 20200609 RGD associated with Hypertension PMID:19179646|REF_RGD_ID:6771336 11927735 SLC9A1 solute carrier family 9 member A1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20003708 11927735 SLC9A1 solute carrier family 9 member A1 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3718 D RGD:9068941 20200609 RGD mRNA:increased expression:right ventricle myocardium PMID:22588937|REF_RGD_ID:6771239 11927735 SLC9A1 solute carrier family 9 member A1 gene DOID:9007102 Myocardial Ischemia ISO RGD:3718 D RGD:9068941 20200609 RGD PMID:17356886|REF_RGD_ID:1625560 11927735 SLC9A1 solute carrier family 9 member A1 gene DOID:9007174 Ventricular Remodeling ISO RGD:736585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20886221 11927735 SLC9A1 solute carrier family 9 member A1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3718 D RGD:9068941 20200609 RGD PMID:22803959|REF_RGD_ID:6771238 11927735 SLC9A1 solute carrier family 9 member A1 gene DOID:9206 Barrett's esophagus ISO RGD:736585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127259 11927735 SLC9A1 solute carrier family 9 member A1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3718 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart PMID:22009485|REF_RGD_ID:6771327 11927757 CDK1 cyclin dependent kinase 1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:731889 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19223503 11927757 CDK1 cyclin dependent kinase 1 gene DOID:0080600 COVID-19 ISO RGD:731889 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11927757 CDK1 cyclin dependent kinase 1 gene DOID:11054 urinary bladder cancer ISO RGD:731889 D RGD:9068941 20200609 RGD PMID:17145867|REF_RGD_ID:2715645 11927757 CDK1 cyclin dependent kinase 1 gene DOID:1612 breast cancer disease_progression ISO RGD:731889 D RGD:9068941 20200609 RGD PMID:17956886|REF_RGD_ID:2708463 11927757 CDK1 cyclin dependent kinase 1 gene DOID:1612 breast cancer susceptibility ISO RGD:731889 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs16941635 (human) PMID:19377877|REF_RGD_ID:2683526 11927757 CDK1 cyclin dependent kinase 1 gene DOID:2671 transitional cell carcinoma severity ISO RGD:731889 D RGD:9068941 20200609 RGD PMID:18245534|REF_RGD_ID:2701900 11927757 CDK1 cyclin dependent kinase 1 gene DOID:3500 gallbladder adenocarcinoma ISO RGD:731889 D RGD:9068941 20200609 RGD protein:increased expression:gallbladder PMID:15017593|REF_RGD_ID:2722465 11927757 CDK1 cyclin dependent kinase 1 gene DOID:4362 cervical cancer ISO RGD:731889 D RGD:9068941 20200609 RGD PMID:18299147|REF_RGD_ID:2296067 11927757 CDK1 cyclin dependent kinase 1 gene DOID:630 genetic disease ISO RGD:731889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927757 CDK1 cyclin dependent kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:731889 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11927757 CDK1 cyclin dependent kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:731889 D RGD:9068941 20220818 RGD protein:increased expression:liver (human) PMID:19136513|REF_RGD_ID:2316317 11927757 CDK1 cyclin dependent kinase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2319 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord dura mater (rat) PMID:19672039|REF_RGD_ID:2316488 11927757 CDK1 cyclin dependent kinase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731889 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11927757 CDK1 cyclin dependent kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731889 D RGD:9068941 20200609 RGD PMID:17460776|REF_RGD_ID:2756028 11927757 CDK1 cyclin dependent kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731890 D RGD:9068941 20200609 RGD PMID:17575168|REF_RGD_ID:2711357 11927757 CDK1 cyclin dependent kinase 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:2319 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:thyroid gland (rat) PMID:19298605|REF_RGD_ID:2314685 11927795 TMEM116 transmembrane protein 116 gene DOID:630 genetic disease ISO RGD:1603287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927816 EIF4E eukaryotic translation initiation factor 4E gene DOID:0050746 mantle cell lymphoma ISO RGD:732833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17148679 11927816 EIF4E eukaryotic translation initiation factor 4E gene DOID:0060041 autism spectrum disorder ISO RGD:732834 D RGD:9068941 20220825 MouseDO 11927816 EIF4E eukaryotic translation initiation factor 4E gene DOID:12849 autistic disorder ISO RGD:732833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism, susceptibility to, 19 PMID:19556253 11927816 EIF4E eukaryotic translation initiation factor 4E gene DOID:12849 autistic disorder susceptibility ISO RGD:732833 D RGD:7240710 20190502 OMIM 11927816 EIF4E eukaryotic translation initiation factor 4E gene DOID:630 genetic disease ISO RGD:732833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927816 EIF4E eukaryotic translation initiation factor 4E gene DOID:8725 vascular dementia ISO RGD:69647 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:23053837|REF_RGD_ID:10401142 11927816 EIF4E eukaryotic translation initiation factor 4E gene DOID:9004484 Sepsis ISO RGD:69647 D RGD:9068941 20200609 RGD PMID:17709445|REF_RGD_ID:10401144 11927816 EIF4E eukaryotic translation initiation factor 4E gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20388789 11927816 EIF4E eukaryotic translation initiation factor 4E gene DOID:9007102 Myocardial Ischemia ISO RGD:69647 D RGD:9068941 20200609 RGD PMID:16439989|REF_RGD_ID:10401145 11927833 ZSWIM3 zinc finger SWIM-type containing 3 gene DOID:2234 focal epilepsy ISO RGD:1320317 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11927833 ZSWIM3 zinc finger SWIM-type containing 3 gene DOID:630 genetic disease ISO RGD:1320317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927833 ZSWIM3 zinc finger SWIM-type containing 3 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1320317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11927839 CABP5 calcium binding protein 5 gene DOID:630 genetic disease ISO RGD:1317691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927849 BEX5 brain expressed X-linked 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11927849 BEX5 brain expressed X-linked 5 gene DOID:12849 autistic disorder ISO RGD:1348519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11927849 BEX5 brain expressed X-linked 5 gene DOID:630 genetic disease ISO RGD:1348519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927856 PARG poly(ADP-ribose) glycohydrolase gene DOID:11372 megacolon ISO RGD:1351666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11927856 PARG poly(ADP-ribose) glycohydrolase gene DOID:3454 brain infarction ISO RGD:620387 D RGD:9068941 20200611 RGD associated with Reperfusion Injury PMID:12834903|REF_RGD_ID:2316742 11927856 PARG poly(ADP-ribose) glycohydrolase gene DOID:5154 borna disease ISO RGD:620387 D RGD:9068941 20200611 RGD mRNA:decreased expression:hippocampus PMID:18057239|REF_RGD_ID:2316738 11927856 PARG poly(ADP-ribose) glycohydrolase gene DOID:5419 schizophrenia ISO RGD:1351666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11927856 PARG poly(ADP-ribose) glycohydrolase gene DOID:630 genetic disease ISO RGD:1351666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927856 PARG poly(ADP-ribose) glycohydrolase gene DOID:9002170 Experimental Neoplasms ISO RGD:1351666 D RGD:9068941 20210312 CTD CTD Direct Evidence: therapeutic PMID:33044785 11927856 PARG poly(ADP-ribose) glycohydrolase gene DOID:9004994 Embryo Loss ISO RGD:1351666 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:15591342 11927856 PARG poly(ADP-ribose) glycohydrolase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1351666 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:25628927|PMID:27003318 11927856 PARG poly(ADP-ribose) glycohydrolase gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:620387 D RGD:9068941 20200611 RGD PMID:15791006|REF_RGD_ID:13514040 11927856 PARG poly(ADP-ribose) glycohydrolase gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:733120 D RGD:9068941 20200611 RGD PMID:15791006|REF_RGD_ID:13514040 11927857 DAGLB diacylglycerol lipase beta gene DOID:630 genetic disease ISO RGD:1604501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927874 LOC100971901 olfactory receptor 2T29 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1342637 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11927874 LOC100971901 olfactory receptor 2T29 gene DOID:1540 parathyroid carcinoma ISO RGD:1342637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11927874 LOC100971901 olfactory receptor 2T29 gene DOID:630 genetic disease ISO RGD:1342637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927874 LOC100971901 olfactory receptor 2T29 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1342637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11927877 DYTN dystrotelin gene DOID:14557 primary pulmonary hypertension ISO RGD:1606642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11927877 DYTN dystrotelin gene DOID:630 genetic disease ISO RGD:1606642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927877 DYTN dystrotelin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11927894 GNG5 G protein subunit gamma 5 gene DOID:630 genetic disease ISO RGD:737441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927894 GNG5 G protein subunit gamma 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11927902 TRIM9 tripartite motif containing 9 gene DOID:630 genetic disease ISO RGD:736868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927925 VPS33B VPS33B late endosome and lysosome associated gene DOID:0050763 ARC syndrome ISO RGD:732726 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arthrogryposis with renal dysfunction and cholestasis syndrome PMID:25741868|PMID:28492532 11927925 VPS33B VPS33B late endosome and lysosome associated gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:732726 D RGD:9068941 20200609 RGD ARC syndrome, OMIM:208085 PMID:15052268|REF_RGD_ID:1599749 11927925 VPS33B VPS33B late endosome and lysosome associated gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:732726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 11927925 VPS33B VPS33B late endosome and lysosome associated gene DOID:0111353 arthrogryposis, renal dysfunction, and cholestasis 1 ISO RGD:732726 D RGD:7240710 20190918 OMIM 11927925 VPS33B VPS33B late endosome and lysosome associated gene DOID:0111353 arthrogryposis, renal dysfunction, and cholestasis 1 ISO RGD:732726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 PMID:11668108|PMID:15052268|PMID:16896922|PMID:17576681|PMID:17994566|PMID:18853461|PMID:19274792|PMID:21851503|PMID:22753090|PMID:24782640|PMID:24917129|PMID:25741868|PMID:26505894|PMID:28492532|PMID:29907094|PMID:31343487|PMID:31479177|PMID:8151641|PMID:9536098 11927925 VPS33B VPS33B late endosome and lysosome associated gene DOID:10907 microcephaly ISO RGD:732726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11927925 VPS33B VPS33B late endosome and lysosome associated gene DOID:13580 cholestasis ISO RGD:732726 D RGD:9068941 20200609 RGD ARC syndrome, OMIM:208085 PMID:15052268|REF_RGD_ID:1599749 11927925 VPS33B VPS33B late endosome and lysosome associated gene DOID:2213 hemorrhagic disease ISO RGD:732726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:28492532 11927925 VPS33B VPS33B late endosome and lysosome associated gene DOID:557 kidney disease ISO RGD:732726 D RGD:9068941 20200609 RGD ARC syndrome, OMIM:208085 PMID:15052268|REF_RGD_ID:1599749 11927925 VPS33B VPS33B late endosome and lysosome associated gene DOID:630 genetic disease ISO RGD:732726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:22753090|PMID:25741868|PMID:26505894|PMID:28492532|PMID:29907094|PMID:31343487|PMID:9536098 11927925 VPS33B VPS33B late endosome and lysosome associated gene DOID:9000149 Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive ISO RGD:732726 D RGD:7240710 20220831 OMIM 11927925 VPS33B VPS33B late endosome and lysosome associated gene DOID:9000149 Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive ISO RGD:732726 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive PMID:28017832 11927925 VPS33B VPS33B late endosome and lysosome associated gene DOID:9001910 Progressive Familial Intrahepatic Cholestasis 12 ISO RGD:732726 D RGD:7240710 20220831 OMIM 11927925 VPS33B VPS33B late endosome and lysosome associated gene DOID:9001910 Progressive Familial Intrahepatic Cholestasis 12 ISO RGD:732726 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 12 PMID:18853461|PMID:25741868|PMID:31479177 11927954 PRDM16 PR/SET domain 16 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1353101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11927954 PRDM16 PR/SET domain 16 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1353101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11927954 PRDM16 PR/SET domain 16 gene DOID:0060480 left ventricular noncompaction ISO RGD:1620785 D RGD:9068941 20220825 MouseDO OMIM:604169 11927954 PRDM16 PR/SET domain 16 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1353101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 11927954 PRDM16 PR/SET domain 16 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1353101 D RGD:7240710 20180130 OMIM 11927954 PRDM16 PR/SET domain 16 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1353101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1LL | ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:16199547|PMID:17576681|PMID:23768516|PMID:24033266|PMID:24140581|PMID:25640679|PMID:25741868|PMID:26350513|PMID:27535533|PMID:28492532|PMID:28798025|PMID:29367541|PMID:30847666|PMID:31333075|PMID:31568572|PMID:31648988|PMID:31983221|PMID:32041989|PMID:32233023|PMID:32746448|PMID:32880476|PMID:33500567|PMID:34540771|PMID:9536098 11927954 PRDM16 PR/SET domain 16 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1353101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11927954 PRDM16 PR/SET domain 16 gene DOID:0111934 immunodeficiency 38 ISO RGD:1353101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11927954 PRDM16 PR/SET domain 16 gene DOID:0111935 immunodeficiency 16 ISO RGD:1353101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11927954 PRDM16 PR/SET domain 16 gene DOID:10907 microcephaly ISO RGD:1353101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11927954 PRDM16 PR/SET domain 16 gene DOID:12930 dilated cardiomyopathy ISO RGD:1353101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23768516|PMID:25741868|PMID:28492532 11927954 PRDM16 PR/SET domain 16 gene DOID:3393 coronary artery disease ISO RGD:1353101 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35590109 11927954 PRDM16 PR/SET domain 16 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1353101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532|PMID:32233023 11927954 PRDM16 PR/SET domain 16 gene DOID:397 restrictive cardiomyopathy ISO RGD:1353101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy PMID:23768516|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 11927954 PRDM16 PR/SET domain 16 gene DOID:630 genetic disease ISO RGD:1353101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:32746448 11927954 PRDM16 PR/SET domain 16 gene DOID:6364 migraine ISO RGD:1353101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21666692 11927954 PRDM16 PR/SET domain 16 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1353101 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:23768516|PMID:25741868|PMID:31333075|PMID:31568572|PMID:34540771 11927954 PRDM16 PR/SET domain 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11927954 PRDM16 PR/SET domain 16 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1353101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11927981 TXNDC15 thioredoxin domain containing 15 gene DOID:0050778 Meckel syndrome ISO RGD:1312290 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25741868|PMID:27894351|PMID:29209597|PMID:31411728 11927981 TXNDC15 thioredoxin domain containing 15 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1312290 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11927981 TXNDC15 thioredoxin domain containing 15 gene DOID:630 genetic disease ISO RGD:1312290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927981 TXNDC15 thioredoxin domain containing 15 gene DOID:9001990 Meckel Syndrome 14 ISO RGD:1312290 D RGD:7240710 20220518 OMIM 11927981 TXNDC15 thioredoxin domain containing 15 gene DOID:9001990 Meckel Syndrome 14 ISO RGD:1312290 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Meckel syndrome 14 PMID:25741868|PMID:27894351|PMID:31411728 11927981 TXNDC15 thioredoxin domain containing 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11927981 TXNDC15 thioredoxin domain containing 15 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1312290 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11927991 SPHK1 sphingosine kinase 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18283525 11927991 SPHK1 sphingosine kinase 1 gene DOID:1240 leukemia ISO RGD:1346404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18283525 11927991 SPHK1 sphingosine kinase 1 gene DOID:299 adenocarcinoma ISO RGD:620048 D RGD:9068941 20200609 RGD protein, mRNA:increased expression:colon mucosa (rat) PMID:16319132|REF_RGD_ID:2311380 11927991 SPHK1 sphingosine kinase 1 gene DOID:3070 high grade glioma ISO RGD:620048 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell (rat) PMID:17316399|REF_RGD_ID:2311379 11927991 SPHK1 sphingosine kinase 1 gene DOID:630 genetic disease ISO RGD:1346404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11927991 SPHK1 sphingosine kinase 1 gene DOID:8577 ulcerative colitis ISO RGD:1346404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24055189 11927991 SPHK1 sphingosine kinase 1 gene DOID:9000784 Fibrosis ISO RGD:1346404 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19657322 11927991 SPHK1 sphingosine kinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346404 D RGD:9068941 20200609 RGD PMID:17265031|REF_RGD_ID:2311390 11928009 POLR2C RNA polymerase II subunit C gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315832 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11928009 POLR2C RNA polymerase II subunit C gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1315832 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 11928009 POLR2C RNA polymerase II subunit C gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315832 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11928009 POLR2C RNA polymerase II subunit C gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1315832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11928009 POLR2C RNA polymerase II subunit C gene DOID:5223 infertility ISO RGD:1315832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infertility 11928009 POLR2C RNA polymerase II subunit C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 11928009 POLR2C RNA polymerase II subunit C gene DOID:630 genetic disease ISO RGD:1315832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928026 LOC100978606 beta-defensin 127 gene DOID:630 genetic disease ISO RGD:1343760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928032 TRIM63 tripartite motif containing 63 gene DOID:0050700 cardiomyopathy ISO RGD:1345707 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19168726 11928032 TRIM63 tripartite motif containing 63 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1345707 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:22821932|PMID:24436435|PMID:25741868|PMID:25801283|PMID:28492532|PMID:30372688|PMID:32451364|PMID:35273634 11928032 TRIM63 tripartite motif containing 63 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1345707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 11928032 TRIM63 tripartite motif containing 63 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1345707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 11928032 TRIM63 tripartite motif containing 63 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1345707 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:22821932|PMID:24436435|PMID:25741868|PMID:25801283|PMID:28492532|PMID:30372688|PMID:32451364|PMID:35273634 11928032 TRIM63 tripartite motif containing 63 gene DOID:630 genetic disease ISO RGD:1345707 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22821932|PMID:24436435|PMID:25741868|PMID:25801283|PMID:28492532|PMID:30372688|PMID:32451364|PMID:35273634 11928032 TRIM63 tripartite motif containing 63 gene DOID:767 muscular atrophy ISO RGD:1345707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21139329 11928032 TRIM63 tripartite motif containing 63 gene DOID:767 muscular atrophy ISO RGD:619964 D RGD:9068941 20200609 RGD mRNA:increased expression:gastrocnemius PMID:11679633|REF_RGD_ID:633893 11928032 TRIM63 tripartite motif containing 63 gene DOID:9003936 Cardiomegaly ISO RGD:1345707 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19168726 11928032 TRIM63 tripartite motif containing 63 gene DOID:9004462 Atrophy ISO RGD:1345707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19168726 11928032 Trim63 tripartite motif containing 63 gene DOID:9884 muscular dystrophy ISO RGD:619964 D RGD:9068941 20200609 RGD dexamethaso-induced and hindlimb denervation PMID:24710205|REF_RGD_ID:14695084 11928045 ABCD4 ATP binding cassette subfamily D member 4 gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:1316370 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:22922874|PMID:23141461|PMID:25234635|PMID:28492532|PMID:28572511|PMID:30651581|PMID:33729671|PMID:33845046 11928045 ABCD4 ATP binding cassette subfamily D member 4 gene DOID:0050731 vitamin B12 deficiency ISO RGD:1316370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22922874 11928045 ABCD4 ATP binding cassette subfamily D member 4 gene DOID:1059 intellectual disability ISO RGD:1316370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11928045 ABCD4 ATP binding cassette subfamily D member 4 gene DOID:630 genetic disease ISO RGD:1316370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11928045 ABCD4 ATP binding cassette subfamily D member 4 gene DOID:655 inherited metabolic disorder ISO RGD:1316370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22922874 11928045 ABCD4 ATP binding cassette subfamily D member 4 gene DOID:9000918 Disease Progression ISO RGD:1316370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 11928045 ABCD4 ATP binding cassette subfamily D member 4 gene DOID:9005863 Methylmalonic Aciduria and Homocystinuria, cblJ Type ISO RGD:1316370 D RGD:7240710 20180130 OMIM 11928045 ABCD4 ATP binding cassette subfamily D member 4 gene DOID:9005863 Methylmalonic Aciduria and Homocystinuria, cblJ Type ISO RGD:1316370 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE PMID:16199547|PMID:17576681|PMID:22922874|PMID:25741868|PMID:28492532|PMID:30293248|PMID:33845046|PMID:9536098 11928045 ABCD4 ATP binding cassette subfamily D member 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 11928073 SLC37A1 solute carrier family 37 member 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1318445 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11928073 SLC37A1 solute carrier family 37 member 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:1318445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11928073 SLC37A1 solute carrier family 37 member 1 gene DOID:630 genetic disease ISO RGD:1318445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928073 SLC37A1 solute carrier family 37 member 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1318445 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11928073 SLC37A1 solute carrier family 37 member 1 gene DOID:9263 homocystinuria ISO RGD:1318445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11928073 SLC37A1 solute carrier family 37 member 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318445 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11928113 EDRF1 erythroid differentiation regulatory factor 1 gene DOID:630 genetic disease ISO RGD:1322314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928144 KHSRP KH-type splicing regulatory protein gene DOID:0080490 mucolipidosis type IV ISO RGD:1346672 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11928144 KHSRP KH-type splicing regulatory protein gene DOID:5409 lung small cell carcinoma ISO RGD:1346672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 11928144 KHSRP KH-type splicing regulatory protein gene DOID:630 genetic disease ISO RGD:1346672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928167 C7H7orf25 chromosome 7 C7orf25 homolog gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11928167 C7H7orf25 chromosome 7 C7orf25 homolog gene DOID:630 genetic disease ISO RGD:1317752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928189 MBD6 methyl-CpG binding domain protein 6 gene DOID:0060041 autism spectrum disorder ISO RGD:1322301 D RGD:9068941 20200609 RGD DNA:missense mutations:cds: PMID:23055267|REF_RGD_ID:9590163 11928189 MBD6 methyl-CpG binding domain protein 6 gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:1322301 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U PMID:28492532 11928189 MBD6 methyl-CpG binding domain protein 6 gene DOID:607 paraplegia ISO RGD:1322301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11928189 MBD6 methyl-CpG binding domain protein 6 gene DOID:630 genetic disease ISO RGD:1322301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928189 MBD6 methyl-CpG binding domain protein 6 gene DOID:6846 familial melanoma ISO RGD:1322301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 11928189 MBD6 methyl-CpG binding domain protein 6 gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1322301 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease PMID:28492532 11928227 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:737195 D RGD:9068941 20200609 RGD PMID:12145210|REF_RGD_ID:1549449 11928227 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:0050861 colorectal adenocarcinoma ISO RGD:737195 D RGD:9068941 20220204 RGD protein:increased expression:colorectal mucosa (human) PMID:10874008|REF_RGD_ID:151347670 11928227 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:737195 D RGD:9068941 20220825 RGD protein:increased expression:tongue (human) PMID:26581505|REF_RGD_ID:11535375 11928227 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:0050866 oral squamous cell carcinoma ISO RGD:737195 D RGD:9068941 20220204 RGD associated with papillomavirus infectious disease;protein:increased expression:oral cavity (human) PMID:28155253|REF_RGD_ID:151347666 11928227 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:0050990 episodic ataxia type 2 ISO RGD:737195 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11928227 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:737195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11928227 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:0111254 glutaric acidemia I ISO RGD:737195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11928227 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:1824 status epilepticus ISO RGD:737195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7984056 11928227 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:1909 melanoma treatment ISO RGD:737195 D RGD:9068941 20220204 RGD human cell line in a mouse model PMID:28976960|REF_RGD_ID:151347671 11928227 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:219 colon cancer ISO RGD:737195 D RGD:9068941 20220204 RGD RNA:decreased expression:colon (human) PMID:11751871|REF_RGD_ID:151347667 11928227 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:3121 gallbladder cancer exacerbates ISO RGD:737195 D RGD:9068941 20220204 RGD protein:increased expression:gall bladder (human) PMID:26318166|REF_RGD_ID:11528126 11928227 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:3413 alpha-mannosidosis ISO RGD:737195 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11928227 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:3525 middle cerebral artery infarction ISO RGD:737195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 11928227 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737195 D RGD:9068941 20220204 RGD protein:increased expression:esophagus (human) PMID:19758438|REF_RGD_ID:151347672 11928227 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:737195 D RGD:9068941 20220204 RGD protein:increased expression:esophagus (human) PMID:30227324|REF_RGD_ID:151347669 11928227 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:737195 D RGD:9068941 20220204 RGD RNA:increased expression:lung (human) PMID:29895215|REF_RGD_ID:151347665 11928227 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:3910 lung adenocarcinoma ISO RGD:737195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24366584 11928227 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:4451 renal carcinoma ISO RGD:2944 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:9405228|REF_RGD_ID:2293758 11928227 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:5520 head and neck squamous cell carcinoma ameliorates ISO RGD:737195 D RGD:9068941 20220204 RGD human cell line in a mouse model PMID:26754630|REF_RGD_ID:11556098 11928227 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:630 genetic disease ISO RGD:737195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928227 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:8567 Hodgkin's lymphoma ISO RGD:737195 D RGD:9068941 20200609 RGD PMID:12145210|REF_RGD_ID:1549449 11928227 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:9005172 Lung Neoplasms ISO RGD:737195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16289808|PMID:27935865 11928227 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:9005873 Tongue Neoplasms ISO RGD:2944 D RGD:9068941 20200609 RGD protein:increased expression:tongue epithelium PMID:14674993|REF_RGD_ID:2293780 11928227 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:9007102 Myocardial Ischemia ISO RGD:737195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11928227 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:9074 systemic lupus erythematosus ISO RGD:737196 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 11928227 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:9256 colorectal cancer ISO RGD:737195 D RGD:9068941 20220204 RGD associated with ulcerative colitis;protein:increased expression:colonic mucosa (human) PMID:33299340|REF_RGD_ID:151347858 11928232 CR2 complement C3d receptor 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:1320753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 11928232 CR2 complement C3d receptor 2 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1320753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:25741868 11928232 CR2 complement C3d receptor 2 gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1320753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:16199547|PMID:17576681|PMID:22035880|PMID:24033266|PMID:25741868|PMID:26193622|PMID:26325596|PMID:28492532|PMID:28499783|PMID:29148534|PMID:29867916|PMID:34426522|PMID:9536098 11928232 CR2 complement C3d receptor 2 gene DOID:0081150 common variable immunodeficiency 7 susceptibility ISO RGD:1320753 D RGD:7240710 20230517 OMIM 11928232 CR2 complement C3d receptor 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1320753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11928232 CR2 complement C3d receptor 2 gene DOID:12849 autistic disorder ISO RGD:1320753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11928232 CR2 complement C3d receptor 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1320753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11928232 CR2 complement C3d receptor 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1320753 D RGD:9068941 20210709 RGD protein:decreased expression:B cell PMID:8442917|REF_RGD_ID:127338249 11928232 CR2 complement C3d receptor 2 gene DOID:5434 scrapie ISO RGD:1320754 D RGD:9068941 20210702 RGD PMID:29202042|REF_RGD_ID:127285805 11928232 CR2 complement C3d receptor 2 gene DOID:630 genetic disease ISO RGD:1320753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11928232 CR2 complement C3d receptor 2 gene DOID:8469 influenza exacerbates ISO RGD:1320754 D RGD:9068941 20210709 RGD PMID:19388171|REF_RGD_ID:127338248 11928232 CR2 complement C3d receptor 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1310065 D RGD:9068941 20210709 RGD protein:increased expression:cerebrospinal fluid PMID:26502875|REF_RGD_ID:11343913 11928232 CR2 complement C3d receptor 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1320753 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11928232 CR2 complement C3d receptor 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:1320753 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 9 PMID:24033266|PMID:25741868|PMID:28492532 11928232 CR2 complement C3d receptor 2 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1320753 D RGD:7240710 20230517 OMIM 11928232 CR2 complement C3d receptor 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11928232 CR2 complement C3d receptor 2 gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:1320753 D RGD:9068941 20210709 RGD DNA:SNP:5'UTR:24T>C (rs3813946)(human) PMID:23612877|REF_RGD_ID:127338247 11928256 GCNT2 glucosaminyl (N-acetyl) transferase 2 (I blood group) gene DOID:0110242 cataract 13 with adult i phenotype ISO RGD:1607088 D RGD:7240710 20180130 OMIM 11928256 GCNT2 glucosaminyl (N-acetyl) transferase 2 (I blood group) gene DOID:0110242 cataract 13 with adult i phenotype ISO RGD:1607088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ADULT i BLOOD GROUP PHENOTYPE | ClinVar Annotator: match by term: Adult i blood group with or without congenital cataract | ClinVar Annotator: match by term: Blood group, I system | ClinVar Annotator: match by term: Cataract 13 with adult I phenotype PMID:11739194|PMID:12424189|PMID:12468428|PMID:15161861|PMID:17576681|PMID:21761136|PMID:22935719|PMID:25457163|PMID:25741868|PMID:28492532|PMID:29770612|PMID:29914532|PMID:9536098 11928256 GCNT2 glucosaminyl (N-acetyl) transferase 2 (I blood group) gene DOID:630 genetic disease ISO RGD:1607088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928256 GCNT2 glucosaminyl (N-acetyl) transferase 2 (I blood group) gene DOID:83 cataract ISO RGD:1607088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract 11928284 PLEKHA1 pleckstrin homology domain containing A1 gene DOID:0080600 COVID-19 ISO RGD:1345011 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11928284 PLEKHA1 pleckstrin homology domain containing A1 gene DOID:2340 craniosynostosis ISO RGD:1345011 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 11928284 PLEKHA1 pleckstrin homology domain containing A1 gene DOID:630 genetic disease ISO RGD:1345011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928284 PLEKHA1 pleckstrin homology domain containing A1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345011 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 11928330 CLIC3 chloride intracellular channel 3 gene DOID:0050777 Joubert syndrome ISO RGD:1316330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11928330 CLIC3 chloride intracellular channel 3 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1316330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11928330 CLIC3 chloride intracellular channel 3 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1316330 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11928330 CLIC3 chloride intracellular channel 3 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1316330 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11928330 CLIC3 chloride intracellular channel 3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11928330 CLIC3 chloride intracellular channel 3 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1316330 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11928330 CLIC3 chloride intracellular channel 3 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 11928330 CLIC3 chloride intracellular channel 3 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316330 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11928330 CLIC3 chloride intracellular channel 3 gene DOID:0081097 Rafiq syndrome ISO RGD:1316330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11928330 CLIC3 chloride intracellular channel 3 gene DOID:1826 epilepsy ISO RGD:1316330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11928330 CLIC3 chloride intracellular channel 3 gene DOID:3652 Leigh disease ISO RGD:1316330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11928330 CLIC3 chloride intracellular channel 3 gene DOID:630 genetic disease ISO RGD:1316330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928330 CLIC3 chloride intracellular channel 3 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1316330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11928345 CMTR2 cap methyltransferase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1601859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11928345 CMTR2 cap methyltransferase 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1601859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11928345 CMTR2 cap methyltransferase 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1601859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11928345 CMTR2 cap methyltransferase 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1601859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 11928345 CMTR2 cap methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1601859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928355 HTR2B 5-hydroxytryptamine receptor 2B gene DOID:0060476 Perlman syndrome ISO RGD:731795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11928355 HTR2B 5-hydroxytryptamine receptor 2B gene DOID:0110991 Joubert syndrome 22 ISO RGD:731795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11928355 HTR2B 5-hydroxytryptamine receptor 2B gene DOID:10763 hypertension ISO RGD:731795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8627522 11928355 HTR2B 5-hydroxytryptamine receptor 2B gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:62093 D RGD:9068941 20220825 MouseDO 11928355 HTR2B 5-hydroxytryptamine receptor 2B gene DOID:1935 Bardet-Biedl syndrome ISO RGD:731795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:29127258 11928355 HTR2B 5-hydroxytryptamine receptor 2B gene DOID:4079 heart valve disease ISO RGD:731795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10617681|PMID:11104741|PMID:16141947|PMID:19505264 11928355 HTR2B 5-hydroxytryptamine receptor 2B gene DOID:4079 heart valve disease treatment ISO RGD:61801 D RGD:9068941 20200609 RGD PMID:19346455|REF_RGD_ID:9698458 11928355 HTR2B 5-hydroxytryptamine receptor 2B gene DOID:6000 congestive heart failure ISO RGD:61801 D RGD:9068941 20200609 RGD mRNA:increased expression:left ventricle cardiac muscle (rat) PMID:17936780|REF_RGD_ID:9698457 11928355 HTR2B 5-hydroxytryptamine receptor 2B gene DOID:6000 congestive heart failure ISO RGD:731795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19023134 11928355 HTR2B 5-hydroxytryptamine receptor 2B gene DOID:630 genetic disease ISO RGD:731795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928355 HTR2B 5-hydroxytryptamine receptor 2B gene DOID:6432 pulmonary hypertension ISO RGD:731795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14659797 11928355 HTR2B 5-hydroxytryptamine receptor 2B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:61801 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:16936262|REF_RGD_ID:9743846 11928355 HTR2B 5-hydroxytryptamine receptor 2B gene DOID:9003936 Cardiomegaly ISO RGD:731795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15302781|PMID:19023134|PMID:20374255 11928355 HTR2B 5-hydroxytryptamine receptor 2B gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:731795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16863450 11928364 LOC100985633 caspase-1 gene DOID:1059 intellectual disability ISO RGD:1605176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11928364 LOC100985633 caspase-1 gene DOID:12704 ataxia telangiectasia ISO RGD:1605176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11928364 LOC100985633 caspase-1 gene DOID:630 genetic disease ISO RGD:1605176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928364 LOC100985633 caspase-1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11928378 MAGT1 magnesium transporter 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11928378 MAGT1 magnesium transporter 1 gene DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ISO RGD:731507 D RGD:7240710 20180130 OMIM 11928378 MAGT1 magnesium transporter 1 gene DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ISO RGD:731507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia PMID:16199547|PMID:17576681|PMID:21796205|PMID:24550228|PMID:25135935|PMID:25504528|PMID:25741868|PMID:25956530|PMID:26422833|PMID:27770395|PMID:28353193|PMID:28492532|PMID:31036665|PMID:32499645|PMID:32581362|PMID:33831577|PMID:9536098 11928378 MAGT1 magnesium transporter 1 gene DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ISO RGD:731507 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome PMID:28492532 11928378 MAGT1 magnesium transporter 1 gene DOID:0111839 congenital disorder of glycosylation Icc ISO RGD:731507 D RGD:7240710 20190911 OMIM 11928378 MAGT1 magnesium transporter 1 gene DOID:0111839 congenital disorder of glycosylation Icc ISO RGD:731507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type ICC PMID:24550228|PMID:25135935|PMID:25741868|PMID:28492532|PMID:31036665 11928378 MAGT1 magnesium transporter 1 gene DOID:12849 autistic disorder ISO RGD:731507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11928378 MAGT1 magnesium transporter 1 gene DOID:1838 Menkes disease ISO RGD:731507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Menkes kinky-hair syndrome PMID:28492532 11928378 MAGT1 magnesium transporter 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:731507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:24550228|PMID:25135935|PMID:25741868|PMID:28492532|PMID:31036665 11928378 MAGT1 magnesium transporter 1 gene DOID:612 primary immunodeficiency disease ISO RGD:731507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:32499645|PMID:32581362|PMID:9536098 11928378 MAGT1 magnesium transporter 1 gene DOID:630 genetic disease ISO RGD:731507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11928399 IER2 immediate early response 2 gene DOID:0050858 Marshall-Smith syndrome ISO RGD:1343257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marshall-Smith syndrome PMID:20673863|PMID:23495138|PMID:25118028|PMID:25736188|PMID:26927468|PMID:27688808|PMID:28492532|PMID:29184170 11928399 IER2 immediate early response 2 gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:1343257 D RGD:9068941 20220818 RGD protein:increased expression:colon (human) PMID:22120713|REF_RGD_ID:153323322 11928399 IER2 immediate early response 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1343257 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532|PMID:29184170 11928399 IER2 immediate early response 2 gene DOID:0070323 childhood acute myeloid leukemia ISO RGD:1343257 D RGD:9068941 20220818 RGD mRNA:increased expression:bone marrow (human) PMID:34702297|REF_RGD_ID:153323323 11928399 IER2 immediate early response 2 gene DOID:0080600 COVID-19 ISO RGD:1343257 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 11928399 IER2 immediate early response 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1343257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11928399 IER2 immediate early response 2 gene DOID:0111254 glutaric acidemia I ISO RGD:1343257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11928399 IER2 immediate early response 2 gene DOID:1909 melanoma disease_progression ISO RGD:1343257 D RGD:9068941 20220818 RGD mRNA:increased expression:skin (human) PMID:34611309|REF_RGD_ID:153323325 11928399 IER2 immediate early response 2 gene DOID:3413 alpha-mannosidosis ISO RGD:1343257 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11928399 IER2 immediate early response 2 gene DOID:630 genetic disease ISO RGD:1343257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928399 IER2 immediate early response 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1343257 D RGD:9068941 20220818 RGD human cells in mouse model PMID:32009420|REF_RGD_ID:153323326 11928399 IER2 immediate early response 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1359581 D RGD:9068941 20220818 RGD PMID:22120713|REF_RGD_ID:153323322 11928399 IER2 immediate early response 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1343257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 11928399 IER2 immediate early response 2 gene DOID:9256 colorectal cancer ISO RGD:1343257 D RGD:9068941 20220818 RGD DNA:hypomethylation:promoter (human) PMID:34311674|REF_RGD_ID:153323328 11928405 MT3 metallothionein 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:730879 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11928405 MT3 metallothionein 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:730879 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11928405 MT3 metallothionein 3 gene DOID:10652 Alzheimer's disease ISO RGD:1553329 D RGD:9068941 20200609 RGD PMID:16444595|REF_RGD_ID:6480619 11928405 MT3 metallothionein 3 gene DOID:10652 Alzheimer's disease ISO RGD:730879 D RGD:9068941 20200609 RGD PMID:19619132|REF_RGD_ID:6480534 11928405 MT3 metallothionein 3 gene DOID:10652 Alzheimer's disease ISO RGD:730879 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:1464312|REF_RGD_ID:6480485 11928405 MT3 metallothionein 3 gene DOID:10652 Alzheimer's disease ISO RGD:730879 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:10595827|REF_RGD_ID:9685805 11928405 MT3 metallothionein 3 gene DOID:11054 urinary bladder cancer ISO RGD:730879 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16854967 11928405 MT3 metallothionein 3 gene DOID:11394 adult respiratory distress syndrome ISO RGD:730879 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 11928405 MT3 metallothionein 3 gene DOID:11832 visual epilepsy treatment ISO RGD:621252 D RGD:9068941 20200609 RGD PMID:23266720|REF_RGD_ID:9685809 11928405 MT3 metallothionein 3 gene DOID:1459 hypothyroidism ISO RGD:621252 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:10407136|REF_RGD_ID:9685800 11928405 MT3 metallothionein 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:730879 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11928405 MT3 metallothionein 3 gene DOID:224 transient cerebral ischemia ISO RGD:621252 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:10069533|REF_RGD_ID:9685804 11928405 MT3 metallothionein 3 gene DOID:231 motor neuron disease ISO RGD:621252 D RGD:9068941 20200609 RGD PMID:16382788|REF_RGD_ID:6480623 11928405 MT3 metallothionein 3 gene DOID:2468 psychotic disorder ISO RGD:730879 D RGD:9068941 20200609 RGD mRNA: increased expression: brain PMID:18992145|REF_RGD_ID:6480540 11928405 MT3 metallothionein 3 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1553329 D RGD:9068941 20200609 RGD PMID:12388585|PMID:17097207|REF_RGD_ID:6480495|REF_RGD_ID:6480627 11928405 MT3 metallothionein 3 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:730879 D RGD:9068941 20200609 RGD PMID:12417341|REF_RGD_ID:6480625 11928405 MT3 metallothionein 3 gene DOID:3525 middle cerebral artery infarction ISO RGD:621252 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:8869568|REF_RGD_ID:9685807 11928405 MT3 metallothionein 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730879 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043644 11928405 MT3 metallothionein 3 gene DOID:4752 multiple system atrophy ISO RGD:730879 D RGD:9068941 20200609 RGD protein: increased expression: visual cortex PMID:20039155|REF_RGD_ID:6480516 11928405 MT3 metallothionein 3 gene DOID:5154 borna disease ISO RGD:621252 D RGD:9068941 20200609 RGD PMID:16612977|REF_RGD_ID:2289373 11928405 MT3 metallothionein 3 gene DOID:571 median neuropathy treatment ISO RGD:621252 D RGD:9068941 20200609 RGD PMID:22253198|REF_RGD_ID:6483815 11928405 MT3 metallothionein 3 gene DOID:630 genetic disease ISO RGD:730879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928405 MT3 metallothionein 3 gene DOID:9000998 Brain Injuries ISO RGD:621252 D RGD:9068941 20200609 RGD PMID:10218634|PMID:10595827|REF_RGD_ID:9685803|REF_RGD_ID:9685805 11928405 MT3 metallothionein 3 gene DOID:9000998 Brain Injuries treatment ISO RGD:621252 D RGD:9068941 20200609 RGD PMID:16314047|REF_RGD_ID:6480628 11928405 MT3 metallothionein 3 gene DOID:9001191 Cadmium Poisoning ISO RGD:1553329 D RGD:9068941 20200609 RGD PMID:20371971|REF_RGD_ID:6480494 11928405 MT3 metallothionein 3 gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:1553329 D RGD:9068941 20200609 RGD PMID:19799968|REF_RGD_ID:6480520 11928405 MT3 metallothionein 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1553329 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (mouse) PMID:19619133|REF_RGD_ID:6484112 11928405 MT3 metallothionein 3 gene DOID:9004001 Facial Nerve Injuries treatment ISO RGD:621252 D RGD:9068941 20200609 RGD PMID:14625437|REF_RGD_ID:9685806 11928405 MT3 metallothionein 3 gene DOID:9004009 Reperfusion Injury ISO RGD:1553329 D RGD:9068941 20200609 RGD PMID:19635467|REF_RGD_ID:6480529 11928405 MT3 metallothionein 3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:730879 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23794209 11928405 MT3 metallothionein 3 gene DOID:9005930 Endotoxemia ISO RGD:621252 D RGD:9068941 20200609 RGD PMID:12135776|REF_RGD_ID:10412330 11928405 MT3 metallothionein 3 gene DOID:9007480 Hyperoxia ISO RGD:621252 D RGD:9068941 20200609 RGD PMID:15680347|REF_RGD_ID:9686051 11928405 MT3 metallothionein 3 gene DOID:9008939 Breast Neoplasms ISO RGD:730879 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21170156 11928405 MT3 metallothionein 3 gene DOID:9970 obesity ISO RGD:1553329 D RGD:9068941 20200609 RGD PMID:21726645|REF_RGD_ID:6480475 11928405 Mt3 metallothionein 3 gene DOID:8466 retinal degeneration ISO RGD:1553329 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:23132798|REF_RGD_ID:10412646 11928413 RGP1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1323378 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11928413 RGP1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1323378 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11928413 RGP1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:1323378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11928413 RGP1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1323378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11928413 RGP1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1323378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11928413 RGP1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:630 genetic disease ISO RGD:1323378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928413 RGP1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1323378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11928413 RGP1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1323378 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11928413 RGP1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:9870 galactosemia ISO RGD:1323378 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11928431 PABPN1L PABPN1 like, cytoplasmic gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:3078328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 11928431 PABPN1L PABPN1 like, cytoplasmic gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:3078328 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11928431 PABPN1L PABPN1 like, cytoplasmic gene DOID:14780 KBG syndrome ISO RGD:3078328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31690835 11928431 PABPN1L PABPN1 like, cytoplasmic gene DOID:630 genetic disease ISO RGD:3078328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928431 PABPN1L PABPN1 like, cytoplasmic gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:3078328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 11928444 DNAJC15 DnaJ heat shock protein family (Hsp40) member C15 gene DOID:1909 melanoma ISO RGD:1316177 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 11928444 DNAJC15 DnaJ heat shock protein family (Hsp40) member C15 gene DOID:630 genetic disease ISO RGD:1316177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928453 CCDC92B coiled-coil domain containing 92B gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:10449362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome PMID:25741868 11928495 ZGLP1 zinc finger GATA like protein 1 gene DOID:630 genetic disease ISO RGD:3418338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928511 ZNF644 zinc finger protein 644 gene DOID:630 genetic disease ISO RGD:1604575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11928511 ZNF644 zinc finger protein 644 gene DOID:9003525 Myopia 21, Autosomal Dominant ISO RGD:1604575 D RGD:7240710 20180130 OMIM 11928511 ZNF644 zinc finger protein 644 gene DOID:9003525 Myopia 21, Autosomal Dominant ISO RGD:1604575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia 21, autosomal dominant PMID:21695231|PMID:25741868 11928523 HNRNPD heterogeneous nuclear ribonucleoprotein D gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:733451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 11928523 HNRNPD heterogeneous nuclear ribonucleoprotein D gene DOID:4676 uremia treatment ISO RGD:620365 D RGD:9068941 20200609 RGD PMID:16291838|REF_RGD_ID:10042968 11928523 HNRNPD heterogeneous nuclear ribonucleoprotein D gene DOID:630 genetic disease ISO RGD:733451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928523 HNRNPD heterogeneous nuclear ribonucleoprotein D gene DOID:684 hepatocellular carcinoma ISO RGD:620365 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:22318685|REF_RGD_ID:10042977 11928523 HNRNPD heterogeneous nuclear ribonucleoprotein D gene DOID:684 hepatocellular carcinoma ISO RGD:733451 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:20102719|REF_RGD_ID:10042969 11928523 HNRNPD heterogeneous nuclear ribonucleoprotein D gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:733451 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11928536 FZD5 frizzled class receptor 5 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1345907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex 11928536 FZD5 frizzled class receptor 5 gene DOID:0080600 COVID-19 ISO RGD:1345907 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11928536 FZD5 frizzled class receptor 5 gene DOID:12270 coloboma ISO RGD:1345907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:25741868|PMID:26908622 11928536 FZD5 frizzled class receptor 5 gene DOID:14557 primary pulmonary hypertension ISO RGD:1345907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11928536 FZD5 frizzled class receptor 5 gene DOID:630 genetic disease ISO RGD:1345907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928536 FZD5 frizzled class receptor 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11928542 PRF1 perforin 1 gene DOID:0050120 hemophagocytic lymphohistiocytosis ISO RGD:1553597 D RGD:9068941 20200609 RGD associated with Lymphocytic Choriomeningitis PMID:20049711|REF_RGD_ID:6482810 11928542 PRF1 perforin 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1350272 D RGD:7240710 20180130 OMIM 11928542 PRF1 perforin 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1350272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoma, non-Hodgkin, familial PMID:25741868 11928542 PRF1 perforin 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1350272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24211274 11928542 PRF1 perforin 1 gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ISO RGD:1350272 D RGD:7240710 20180130 OMIM 11928542 PRF1 perforin 1 gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ISO RGD:1350272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 | ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to PMID:10583959|PMID:11179007|PMID:1156555|PMID:11565555|PMID:11756153|PMID:11841437|PMID:12060139|PMID:12229880|PMID:12599189|PMID:12716377|PMID:14576041|PMID:14739222|PMID:14757862|PMID:15077010|PMID:15205266|PMID:15342365|PMID:15365097|PMID:15459303|PMID:15609274|PMID:15632205|PMID:15659737|PMID:15718147|PMID:15728124|PMID:15755277|PMID:15755897|PMID:15924140|PMID:16278825|PMID:16374518|PMID:16443553|PMID:16720836|PMID:16860143|PMID:17164654|PMID:17266056|PMID:17311987|PMID:17328077|PMID:17356398|PMID:17475905|PMID:17477373|PMID:17525286|PMID:17576681|PMID:17601962|PMID:17606450|PMID:17627755|PMID:17674359|PMID:17873118|PMID:18074390|PMID:18190960|PMID:18496551|PMID:18710388|PMID:18799942|PMID:18927437|PMID:19487666|PMID:19595804|PMID:19639728|PMID:20015888|PMID:20019066|PMID:20092789|PMID:20197201|PMID:20638125|PMID:21152410|PMID:21157294|PMID:21234777|PMID:21674762|PMID:21881043|PMID:21931115|PMID:21959744|PMID:22186995|PMID:22249210|PMID:22437823|PMID:22970278|PMID:23073044|PMID:23073290|PMID:23160464|PMID:23180437|PMID:23255033|PMID:23264592|PMID:23287865|PMID:23443029|PMID:23592409|PMID:24033266|PMID:24215106|PMID:24309606|PMID:24390453|PMID:24578718|PMID:24744671|PMID:24916509|PMID:25047945|PMID:25215106|PMID:25233452|PMID:25297583|PMID:25326635|PMID:25326637|PMID:25354579|PMID:25577959|PMID:25741868|PMID:25776844|PMID:25845254|PMID:25937001|PMID:26184781|PMID:26199792|PMID:26221353|PMID:26342526|PMID:26450956|PMID:26684649|PMID:26739415|PMID:26903364|PMID:27033761|PMID:27209435|PMID:27271812|PMID:27290639|PMID:27391055|PMID:27535533|PMID:27577878|PMID:27622035|PMID:27896523|PMID:28353193|PMID:28492532|PMID:28750028|PMID:29095814|PMID:29113160|PMID:29152263|PMID:29239076|PMID:29263817|PMID:29357941|PMID:29665027|PMID:30104219|PMID:30539918|PMID:30697212|PMID:30849948|PMID:30899265|PMID:31388699|PMID:31395954|PMID:31664448|PMID:31789783|PMID:32150605|PMID:32356861|PMID:32375849|PMID:32542393|PMID:32638196|PMID:32963807|PMID:33225392|PMID:33365035|PMID:33658321|PMID:33746956|PMID:33869605|PMID:34170459|PMID:34938098|PMID:7851014|PMID:9536098 11928542 PRF1 perforin 1 gene DOID:10113 trypanosomiasis ISO RGD:1553597 D RGD:9068941 20200609 RGD PMID:19651871|REF_RGD_ID:6482814 11928542 PRF1 perforin 1 gene DOID:12365 malaria ISO RGD:1553597 D RGD:9068941 20200609 RGD PMID:21525386|REF_RGD_ID:6482803 11928542 PRF1 perforin 1 gene DOID:12449 aplastic anemia ISO RGD:1350272 D RGD:7240710 20180130 OMIM 11928542 PRF1 perforin 1 gene DOID:12449 aplastic anemia ISO RGD:1350272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aplastic anemia PMID:10583959|PMID:11179007|PMID:1156555|PMID:11756153|PMID:14576041|PMID:14757862|PMID:15205266|PMID:15365097|PMID:15632205|PMID:15728124|PMID:15755897|PMID:16278825|PMID:16374518|PMID:16443553|PMID:16860143|PMID:17266056|PMID:17311987|PMID:17477373|PMID:17525286|PMID:17873118|PMID:18190960|PMID:18710388|PMID:19487666|PMID:19595804|PMID:21674762|PMID:21881043|PMID:21959744|PMID:22437823|PMID:23073290|PMID:23255033|PMID:23264592|PMID:23443029|PMID:23592409|PMID:24744671|PMID:24916509|PMID:25233452|PMID:25741868|PMID:26184781|PMID:26221353|PMID:27033761|PMID:27577878|PMID:27622035|PMID:28492532|PMID:29113160|PMID:29239076|PMID:29357941|PMID:29665027|PMID:30899265|PMID:31395954|PMID:32375849|PMID:33225392|PMID:34170459 11928542 PRF1 perforin 1 gene DOID:12849 autistic disorder ISO RGD:1350272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18762240 11928542 PRF1 perforin 1 gene DOID:13636 Fanconi anemia ISO RGD:1350272 D RGD:9068941 20200609 RGD PMID:21542827|REF_RGD_ID:6482802 11928542 PRF1 perforin 1 gene DOID:1520 colon carcinoma ISO RGD:708463 D RGD:9068941 20200609 RGD PMID:22420317|REF_RGD_ID:6482822 11928542 PRF1 perforin 1 gene DOID:2377 multiple sclerosis ISO RGD:1350272 D RGD:9068941 20200609 RGD DNA:SNPs:introns:c.-5+321C>T, c.539+82C>T (rs3758562, rs10999426) (human) PMID:20921521|REF_RGD_ID:6482820 11928542 PRF1 perforin 1 gene DOID:2377 multiple sclerosis ISO RGD:1350272 D RGD:9068941 20200609 RGD protein:increased expression:blood, T cell PMID:22001684|REF_RGD_ID:6482817 11928542 PRF1 perforin 1 gene DOID:2377 multiple sclerosis ISO RGD:1553597 D RGD:9068941 20200609 RGD PMID:19680139|REF_RGD_ID:6482805 11928542 PRF1 perforin 1 gene DOID:2377 multiple sclerosis ISO RGD:1553597 D RGD:9068941 20220825 MouseDO OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810 11928542 PRF1 perforin 1 gene DOID:2841 asthma ISO RGD:1553597 D RGD:9068941 20200609 RGD PMID:22250087|REF_RGD_ID:6482815 11928542 PRF1 perforin 1 gene DOID:2841 asthma ISO RGD:708463 D RGD:9068941 20200609 RGD PMID:21426642|REF_RGD_ID:6482818 11928542 PRF1 perforin 1 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:708463 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:10886554|REF_RGD_ID:1599935 11928542 PRF1 perforin 1 gene DOID:2921 glomerulonephritis ISO RGD:708463 D RGD:9068941 20200609 RGD PMID:17622272|REF_RGD_ID:6482824 11928542 PRF1 perforin 1 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1350272 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10583959|PMID:11179007|PMID:1156555|PMID:11565555|PMID:12060139|PMID:12229880|PMID:12599189|PMID:14739222|PMID:14757862|PMID:15077010|PMID:15342365|PMID:15365097|PMID:15459303|PMID:15659737|PMID:15728124|PMID:15755277|PMID:15755897|PMID:16278825|PMID:16374518|PMID:16720836|PMID:16860143|PMID:17164654|PMID:17311987|PMID:17475905|PMID:17477373|PMID:17674359|PMID:17873118|PMID:18496551|PMID:18799942|PMID:18927437|PMID:19487666|PMID:20019066|PMID:20197201|PMID:21234777|PMID:21674762|PMID:21881043|PMID:22437823|PMID:22970278|PMID:23255033|PMID:23287865|PMID:23443029|PMID:23592409|PMID:24033266|PMID:24309606|PMID:24916509|PMID:25047945|PMID:25233452|PMID:25741868|PMID:25776844|PMID:25845254|PMID:25937001|PMID:26184781|PMID:26221353|PMID:26450956|PMID:26684649|PMID:27271812|PMID:27391055|PMID:27535533|PMID:28492532|PMID:29263817|PMID:29357941|PMID:31395954|PMID:31664448|PMID:32150605|PMID:32356861|PMID:32542393|PMID:32638196|PMID:33658321|PMID:33746956|PMID:34938098|PMID:7851014 11928542 PRF1 perforin 1 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1350272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10583959|PMID:11179007|PMID:1156555|PMID:11565555|PMID:12060139|PMID:12229880|PMID:12599189|PMID:12716377|PMID:14739222|PMID:14757862|PMID:15077010|PMID:15342365|PMID:15365097|PMID:15459303|PMID:15659737|PMID:15728124|PMID:15755277|PMID:15755897|PMID:16278825|PMID:16374518|PMID:16720836|PMID:16860143|PMID:17164654|PMID:17311987|PMID:17475905|PMID:17477373|PMID:17525286|PMID:17606450|PMID:17674359|PMID:17873118|PMID:18496551|PMID:18799942|PMID:18927437|PMID:19487666|PMID:20019066|PMID:20092789|PMID:20197201|PMID:21234777|PMID:21674762|PMID:21881043|PMID:22249210|PMID:22437823|PMID:22970278|PMID:23255033|PMID:23287865|PMID:23443029|PMID:23592409|PMID:24033266|PMID:24309606|PMID:24916509|PMID:25047945|PMID:25233452|PMID:25741868|PMID:25776844|PMID:25845254|PMID:25937001|PMID:26184781|PMID:26221353|PMID:26342526|PMID:26450956|PMID:26684649|PMID:26739415|PMID:27271812|PMID:27391055|PMID:27535533|PMID:28492532|PMID:29263817|PMID:29357941|PMID:29665027|PMID:31388699|PMID:31395954|PMID:31664448|PMID:32150605|PMID:32356861|PMID:32542393|PMID:32638196|PMID:33225392|PMID:33658321|PMID:33746956|PMID:34938098|PMID:7851014 11928542 PRF1 perforin 1 gene DOID:4330 non-Langerhans-cell histiocytosis ISO RGD:1350272 D RGD:9068941 20200609 RGD DNA:deletion, nonsense mutation, missense mutations: ; Lymphohistiocytosis, Hemophagocytic, OMIM:603553 PMID:11179007|REF_RGD_ID:1599929 11928542 PRF1 perforin 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1350272 D RGD:9068941 20200609 RGD PMID:20523897|REF_RGD_ID:6482808 11928542 PRF1 perforin 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1350272 D RGD:9068941 20200609 RGD DNA:SNP: :rs885822 (human) PMID:21157294|REF_RGD_ID:6482819 11928542 PRF1 perforin 1 gene DOID:630 genetic disease ISO RGD:1350272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10583959|PMID:11179007|PMID:11565555|PMID:11756153|PMID:12060139|PMID:12229880|PMID:14757862|PMID:15365097|PMID:15728124|PMID:15755897|PMID:16278825|PMID:16374518|PMID:17164654|PMID:17674359|PMID:17873118|PMID:19487666|PMID:20197201|PMID:21234777|PMID:21881043|PMID:21959744|PMID:23073290|PMID:23443029|PMID:23592409|PMID:24916509|PMID:25741868|PMID:25845254|PMID:25937001|PMID:26184781|PMID:26221353|PMID:26684649|PMID:27271812|PMID:27577878|PMID:28492532|PMID:29263817|PMID:29357941|PMID:32638196|PMID:34938098 11928542 PRF1 perforin 1 gene DOID:820 myocarditis ISO RGD:1553597 D RGD:9068941 20200609 RGD PMID:21993400|REF_RGD_ID:6482790 11928542 PRF1 perforin 1 gene DOID:8544 chronic fatigue syndrome ISO RGD:1350272 D RGD:9068941 20200609 RGD PMID:21619669|REF_RGD_ID:6482801 11928542 PRF1 perforin 1 gene DOID:8729 milker's nodule ISO RGD:1553597 D RGD:9068941 20200609 RGD PMID:22396645|REF_RGD_ID:6482788 11928542 PRF1 perforin 1 gene DOID:8778 Crohn's disease ISO RGD:1350272 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:22021194|REF_RGD_ID:6482789 11928542 PRF1 perforin 1 gene DOID:9000998 Brain Injuries ISO RGD:1350272 D RGD:9068941 20200609 RGD PMID:20537642|REF_RGD_ID:6482807 11928542 PRF1 perforin 1 gene DOID:9001488 Human Influenza ISO RGD:1350272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26597256 11928542 PRF1 perforin 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1553597 D RGD:9068941 20200609 RGD PMID:20708278|REF_RGD_ID:6482806 11928542 PRF1 perforin 1 gene DOID:9002798 Macrophage Activation Syndrome ISO RGD:1350272 D RGD:9068941 20200609 RGD associated with Arthritis, Juvenile Rheumatoid;DNA:missense mutation:cds:p.A91V (human) PMID:20019066|REF_RGD_ID:6482811 11928542 PRF1 perforin 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1553597 D RGD:9068941 20200609 RGD associated with Colitis PMID:19785028|REF_RGD_ID:6482812 11928542 PRF1 perforin 1 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1350272 D RGD:9068941 20201112 RGD protein:increased expression:peripheral blood mononuclear cell (human) PMID:25148254|REF_RGD_ID:40813739 11928542 PRF1 perforin 1 gene DOID:9004146 Flavivirus Infections ISO RGD:1553597 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, spleen PMID:21908734|REF_RGD_ID:6482795 11928542 PRF1 perforin 1 gene DOID:9004404 Familial Hemophagocytic Lymphohistiocytoses ISO RGD:1350272 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis PMID:10583959|PMID:11179007|PMID:1156555|PMID:11565555|PMID:11756153|PMID:12060139|PMID:12716377|PMID:14576041|PMID:14757862|PMID:15205266|PMID:15365097|PMID:15632205|PMID:15755897|PMID:16278825|PMID:16374518|PMID:16443553|PMID:16860143|PMID:17164654|PMID:17266056|PMID:17525286|PMID:17674359|PMID:17873118|PMID:18190960|PMID:18710388|PMID:19487666|PMID:19595804|PMID:19639728|PMID:21234777|PMID:21881043|PMID:21959744|PMID:22186995|PMID:22437823|PMID:23073290|PMID:23255033|PMID:23264592|PMID:23443029|PMID:23592409|PMID:24033266|PMID:24390453|PMID:24744671|PMID:24916509|PMID:25577959|PMID:25741868|PMID:26184781|PMID:26199792|PMID:26684649|PMID:27209435|PMID:27271812|PMID:27577878|PMID:27622035|PMID:28492532|PMID:28757574|PMID:29095814|PMID:29152263|PMID:29239076|PMID:29357941|PMID:29665027|PMID:30849948|PMID:31388699|PMID:31395954|PMID:31789783|PMID:32375849|PMID:32638196|PMID:33365035|PMID:33658321|PMID:33746956 11928542 PRF1 perforin 1 gene DOID:9008288 Visceral Heterotaxy 5, Autosomal ISO RGD:1350272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal PMID:28492532 11928542 PRF1 perforin 1 gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1350272 D RGD:9068941 20200609 RGD PMID:21906646|REF_RGD_ID:6482798 11928542 PRF1 perforin 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1553597 D RGD:9068941 20220825 MouseDO OMIM:222100 11928571 LARP1 La ribonucleoprotein 1, translational regulator gene DOID:630 genetic disease ISO RGD:1603686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928612 CREBL2 cAMP responsive element binding protein like 2 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1319876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 11928612 CREBL2 cAMP responsive element binding protein like 2 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1319876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 11928612 CREBL2 cAMP responsive element binding protein like 2 gene DOID:630 genetic disease ISO RGD:1319876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928620 VPS4B vacuolar protein sorting 4 homolog B gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1314314 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11928620 VPS4B vacuolar protein sorting 4 homolog B gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1314314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 11928620 VPS4B vacuolar protein sorting 4 homolog B gene DOID:630 genetic disease ISO RGD:1314314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928635 TULP2 TUB like protein 2 gene DOID:630 genetic disease ISO RGD:1321519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928658 CELF3 CUGBP Elav-like family member 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1319873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11928658 CELF3 CUGBP Elav-like family member 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1319873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11928658 CELF3 CUGBP Elav-like family member 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1319873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11928658 CELF3 CUGBP Elav-like family member 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1319873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11928658 CELF3 CUGBP Elav-like family member 3 gene DOID:5812 MHC class II deficiency ISO RGD:1319873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11928658 CELF3 CUGBP Elav-like family member 3 gene DOID:630 genetic disease ISO RGD:1319873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928658 CELF3 CUGBP Elav-like family member 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11928694 SBDS SBDS ribosome maturation factor gene DOID:0060479 Shwachman-Diamond syndrome ISO RGD:1322290 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:16867904|PMID:17478638|PMID:17916435|PMID:19148133|PMID:20301722|PMID:21695142|PMID:22491737|PMID:22934832|PMID:22935661|PMID:23351992|PMID:24033266|PMID:24388329|PMID:24629175|PMID:24898207|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26479198|PMID:26822237|PMID:28509441|PMID:31321910|PMID:32150944|PMID:32581362 11928694 SBDS SBDS ribosome maturation factor gene DOID:0060479 Shwachman-Diamond syndrome susceptibility ISO RGD:1322290 D RGD:7240710 20230510 OMIM 11928694 SBDS SBDS ribosome maturation factor gene DOID:1059 intellectual disability ISO RGD:1322290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11928694 SBDS SBDS ribosome maturation factor gene DOID:12449 aplastic anemia ISO RGD:1322290 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Aplastic anemia, susceptibility to PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:16867904|PMID:17478638|PMID:19148133|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26822237|PMID:32150944|PMID:32581362 11928694 SBDS SBDS ribosome maturation factor gene DOID:12449 aplastic anemia susceptibility ISO RGD:1322290 D RGD:7240710 20230510 OMIM 11928694 SBDS SBDS ribosome maturation factor gene DOID:14755 argininosuccinic aciduria ISO RGD:1322290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency PMID:28492532 11928694 SBDS SBDS ribosome maturation factor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11928694 SBDS SBDS ribosome maturation factor gene DOID:630 genetic disease ISO RGD:1322290 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:16867904|PMID:17478638|PMID:17916435|PMID:19148133|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:23351992|PMID:24033266|PMID:24388329|PMID:24629175|PMID:24898207|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26822237|PMID:28509441|PMID:31321910|PMID:32150944|PMID:32581362 11928694 SBDS SBDS ribosome maturation factor gene DOID:9007661 Dwarfism ISO RGD:1322290 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Short stature PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:16867904|PMID:17478638|PMID:19148133|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26822237|PMID:32150944|PMID:32581362 11928703 NEBL nebulette gene DOID:0050700 cardiomyopathy ISO RGD:1318016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:28492532 11928703 NEBL nebulette gene DOID:0060224 atrial fibrillation ISO RGD:1318016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation 11928703 NEBL nebulette gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1318016 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28492532|PMID:28750076 11928703 NEBL nebulette gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1318016 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:20951326|PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28492532|PMID:28750076 11928703 NEBL nebulette gene DOID:12930 dilated cardiomyopathy ISO RGD:1318016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11140941|PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:27186169|PMID:28166811|PMID:28492532|PMID:29247119|PMID:29544605|PMID:29915097|PMID:30165862|PMID:30206291|PMID:9536098 11928703 NEBL nebulette gene DOID:12930 dilated cardiomyopathy ISO RGD:1318016 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11140941|PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:27186169|PMID:28166811|PMID:28492532|PMID:29247119|PMID:29915097|PMID:30206291|PMID:9536098 11928703 NEBL nebulette gene DOID:12930 dilated cardiomyopathy ISO RGD:1318016 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11140941|PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28166811|PMID:28492532|PMID:28750076|PMID:29247119|PMID:29915097|PMID:30206291|PMID:9536098 11928703 NEBL nebulette gene DOID:12930 dilated cardiomyopathy ISO RGD:1318016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11140941|PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28492532|PMID:28750076|PMID:29247119|PMID:29544605|PMID:29915097|PMID:30165862|PMID:30206291|PMID:31737537|PMID:32746448|PMID:9536098 11928703 NEBL nebulette gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:1318016 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.N654K (human) PMID:11140941|REF_RGD_ID:1581084 11928703 NEBL nebulette gene DOID:2843 long QT syndrome ISO RGD:1318016 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28492532|PMID:28750076 11928703 NEBL nebulette gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1318016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 11928703 NEBL nebulette gene DOID:630 genetic disease ISO RGD:1318016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:25987543|PMID:28492532 11928703 NEBL nebulette gene DOID:9007820 Sudden Death ISO RGD:1318016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:25741868|PMID:28492532 11928703 NEBL nebulette gene DOID:9007925 Sudden Cardiac Death ISO RGD:1318016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death 11928744 CLEC1A C-type lectin domain family 1 member A gene DOID:13564 aspergillosis ISO RGD:1343742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aspergillosis, susceptibility to PMID:29489751 11928744 CLEC1A C-type lectin domain family 1 member A gene DOID:13564 aspergillosis susceptibility ISO RGD:1343742 D RGD:7240710 20190502 OMIM 11928744 CLEC1A C-type lectin domain family 1 member A gene DOID:630 genetic disease ISO RGD:1343742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928766 MTRNR2L10 MT-RNR2 like 10 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:4105536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11928766 MTRNR2L10 MT-RNR2 like 10 gene DOID:12849 autistic disorder ISO RGD:4105536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11928766 MTRNR2L10 MT-RNR2 like 10 gene DOID:630 genetic disease ISO RGD:4105536 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928776 PDE6G phosphodiesterase 6G gene DOID:0110407 retinitis pigmentosa 57 ISO RGD:735391 D RGD:7240710 20180130 OMIM 11928776 PDE6G phosphodiesterase 6G gene DOID:0110407 retinitis pigmentosa 57 ISO RGD:735391 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 57 PMID:17576681|PMID:20655036|PMID:25741868|PMID:28492532|PMID:9536098 11928776 PDE6G phosphodiesterase 6G gene DOID:10584 retinitis pigmentosa ISO RGD:735391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20655036|PMID:25741868|PMID:28492532 11928776 PDE6G phosphodiesterase 6G gene DOID:630 genetic disease ISO RGD:735391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11928776 PDE6G phosphodiesterase 6G gene DOID:8501 fundus dystrophy ISO RGD:735391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 11928786 KRT2 keratin 2 gene DOID:0060877 bullous congenital ichthyosiform erythroderma ISO RGD:1342754 D RGD:7240710 20180130 OMIM 11928786 KRT2 keratin 2 gene DOID:0060877 bullous congenital ichthyosiform erythroderma ISO RGD:1342754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ichthyosis bullosa of Siemens PMID:10233323|PMID:10620137|PMID:11531804|PMID:1380918|PMID:2004005|PMID:25741868|PMID:28492532|PMID:7521371|PMID:7524919|PMID:8077693|PMID:9204966|PMID:9804344 11928786 KRT2 keratin 2 gene DOID:1697 ichthyosis susceptibility ISO RGD:1342754 D RGD:9068941 20200609 RGD DNA:mutations PMID:7524919|REF_RGD_ID:1600192 11928786 KRT2 keratin 2 gene DOID:2773 contact dermatitis ISO RGD:1342754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11928786 KRT2 keratin 2 gene DOID:630 genetic disease ISO RGD:1342754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928786 KRT2 keratin 2 gene DOID:9004728 Ichthyosis Exfoliativa ISO RGD:1342754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ichthyosis exfoliativa PMID:10233323|PMID:2004005|PMID:7521371|PMID:7524919|PMID:8077693 11928807 TMF1 TATA element modulatory factor 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:732153 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11928807 TMF1 TATA element modulatory factor 1 gene DOID:630 genetic disease ISO RGD:732153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928807 TMF1 TATA element modulatory factor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732153 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 11928835 C6H6orf132 chromosome 6 C6orf132 homolog gene DOID:0050444 infantile Refsum disease ISO RGD:1354360 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11928835 C6H6orf132 chromosome 6 C6orf132 homolog gene DOID:630 genetic disease ISO RGD:1354360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928835 C6H6orf132 chromosome 6 C6orf132 homolog gene DOID:905 Zellweger syndrome ISO RGD:1354360 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11928851 HTR1F 5-hydroxytryptamine receptor 1F gene DOID:630 genetic disease ISO RGD:734005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928851 HTR1F 5-hydroxytryptamine receptor 1F gene DOID:6364 migraine ISO RGD:734005 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:35115687 11928857 ZNF324B zinc finger protein 324B gene DOID:630 genetic disease ISO RGD:1603828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:15176425|PMID:16244680|PMID:22402334|PMID:22581653|PMID:25741868|PMID:28492532 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0050451 Brugada syndrome ISO RGD:732101 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:11997281|PMID:14661677|PMID:14760488|PMID:15840476|PMID:16043162|PMID:16487223|PMID:19841300|PMID:22581653|PMID:22584458|PMID:22949429|PMID:23861362|PMID:24223155|PMID:25417810|PMID:25741868|PMID:27711072|PMID:28492532|PMID:30662450|PMID:34135346 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0050793 short QT syndrome ISO RGD:732101 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Short QT syndrome PMID:11173780|PMID:12925462|PMID:14676148|PMID:15828882|PMID:18692916|PMID:19088443|PMID:19174314|PMID:19340359|PMID:19413965|PMID:19439805|PMID:19501051|PMID:19926013|PMID:21130771|PMID:21798421|PMID:22194679|PMID:22581653|PMID:23300672|PMID:23471968|PMID:24291113|PMID:25741868|PMID:25974115|PMID:28491588|PMID:28492532 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0060224 atrial fibrillation ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:10807545|PMID:11997281|PMID:12402336|PMID:12829173|PMID:14661677|PMID:14760488|PMID:15599693|PMID:16116052|PMID:16132053|PMID:16487223|PMID:17161064|PMID:17210839|PMID:18060054|PMID:18222980|PMID:18808722|PMID:19841300|PMID:22581653|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:732101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11222472|PMID:11468227|PMID:11668638|PMID:14998624|PMID:22581653|PMID:24606995|PMID:25417810|PMID:25741868|PMID:28492532 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110218 Brugada syndrome 1 ISO RGD:732101 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:19716085|PMID:22581653|PMID:23861362|PMID:25417810|PMID:25637381|PMID:25741868|PMID:26332594|PMID:28492532|PMID:29247119|PMID:29255176|PMID:29752375|PMID:31696929|PMID:32048431 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:732101 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10226095|PMID:10483966|PMID:10560244|PMID:10690305|PMID:10753933|PMID:10841244|PMID:10862094|PMID:10973849|PMID:10987356|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11741928|PMID:11854117|PMID:11997281|PMID:12062363|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12477631|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12741719|PMID:12775586|PMID:12837749|PMID:12877697|PMID:14661677|PMID:14720170|PMID:14760488|PMID:14998624|PMID:15043509|PMID:15051636|PMID:15090700|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15242738|PMID:15280442|PMID:15466642|PMID:15500450|PMID:15545400|PMID:15635208|PMID:15840476|PMID:15851119|PMID:15851652|PMID:16155735|PMID:16166152|PMID:16244680|PMID:16253912|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17171344|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17445409|PMID:17569659|PMID:17823114|PMID:17905336|PMID:18004376|PMID:18093521|PMID:18222468|PMID:18386051|PMID:18441445|PMID:18464931|PMID:18468596|PMID:18508782|PMID:18593567|PMID:18596570|PMID:18675227|PMID:18752142|PMID:18791070|PMID:18808722|PMID:18955593|PMID:19038855|PMID:19057127|PMID:19070294|PMID:19160088|PMID:19169982|PMID:19306396|PMID:19352046|PMID:19371231|PMID:19490267|PMID:19694797|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20167303|PMID:20197117|PMID:20301308|PMID:20348026|PMID:20541041|PMID:20544339|PMID:20659946|PMID:20670193|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20950623|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21109023|PMID:21185501|PMID:21215473|PMID:21216356|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21308345|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21440677|PMID:21490315|PMID:21499742|PMID:21536673|PMID:21573751|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22245016|PMID:22378279|PMID:22396785|PMID:22402334|PMID:22581653|PMID:22584458|PMID:22653970|PMID:22727609|PMID:22821100|PMID:22876326|PMID:22885918|PMID:22927196|PMID:22949429|PMID:22995991|PMID:23022675|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23304551|PMID:23316740|PMID:23338923|PMID:23465283|PMID:23470493|PMID:23546015|PMID:23555008|PMID:23631430|PMID:23861362|PMID:23936059|PMID:23975098|PMID:23980196|PMID:23995044|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24217263|PMID:24223155|PMID:24363352|PMID:24388587|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24973560|PMID:25119684|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25417810|PMID:25576780|PMID:25608792|PMID:25637381|PMID:25741868|PMID:25819988|PMID:25925977|PMID:25967940|PMID:26063740|PMID:26129877|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26847485|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27041096|PMID:27059892|PMID:27064559|PMID:27231019|PMID:27251404|PMID:27261823|PMID:27492745|PMID:27555138|PMID:27803431|PMID:27871843|PMID:27920829|PMID:28082916|PMID:28292826|PMID:28349240|PMID:28431243|PMID:28449774|PMID:28492532|PMID:28532774|PMID:28566242|PMID:28794082|PMID:28798025|PMID:28855170|PMID:28861002|PMID:28988457|PMID:29247119|PMID:29330128|PMID:29331839|PMID:29431731|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29752375|PMID:29766885|PMID:29884292|PMID:29957233|PMID:30012873|PMID:30123799|PMID:30246897|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31358886|PMID:31493592|PMID:31557540|PMID:31628797|PMID:31696929|PMID:31737537|PMID:31844156|PMID:32038248|PMID:32048431|PMID:32311972|PMID:32383558 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:732101 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:32475984|PMID:32893267|PMID:32940533|PMID:33198487|PMID:33258288|PMID:34002542|PMID:34135346|PMID:34426522|PMID:34502138|PMID:34546463|PMID:34712263|PMID:36203036|PMID:7889573|PMID:8700910|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110645 long QT syndrome 2 ISO RGD:732101 D RGD:7240710 20180130 OMIM 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110645 long QT syndrome 2 ISO RGD:732101 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 | ClinVar Annotator: match by term: Long QT syndrome 2, acquired, susceptibility to PMID:10086971|PMID:10187793|PMID:10220144|PMID:10220146|PMID:10226095|PMID:10483966|PMID:10560244|PMID:10735633|PMID:10753933|PMID:10807545|PMID:10841244|PMID:10862094|PMID:10862104|PMID:10973849|PMID:10996323|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11668641|PMID:11741928|PMID:11802537|PMID:11854117|PMID:11997281|PMID:12021266|PMID:12175777|PMID:12354768|PMID:12402336|PMID:12477631|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12775564|PMID:12775586|PMID:12808265|PMID:12829173|PMID:12877697|PMID:14661677|PMID:14720170|PMID:14760488|PMID:14975928|PMID:14998624|PMID:15051636|PMID:15090700|PMID:15176425|PMID:15466642|PMID:15522280|PMID:15599693|PMID:15746444|PMID:15760896|PMID:15840476|PMID:15851119|PMID:16116052|PMID:16132053|PMID:16155735|PMID:16253915|PMID:16361248|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16487223|PMID:16720674|PMID:16754261|PMID:16818214|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17445409|PMID:17531263|PMID:17560885|PMID:17576861|PMID:17597962|PMID:17905336|PMID:18060054|PMID:18222980|PMID:18426444|PMID:18441445|PMID:18464931|PMID:18551196|PMID:18593567|PMID:18596570|PMID:18752142|PMID:18776039|PMID:18808722|PMID:19019189|PMID:19038855|PMID:19057127|PMID:19070294|PMID:19160088|PMID:19169982|PMID:19305409|PMID:19306396|PMID:19322600|PMID:19490267|PMID:19490382|PMID:19673885|PMID:19716085|PMID:19731233|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20167303|PMID:20181576|PMID:20197117|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20931094|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21109023|PMID:21185501|PMID:21215473|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21490315|PMID:21573751|PMID:21661061|PMID:21703926|PMID:21737021|PMID:21779290|PMID:21806934|PMID:21960720|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22245016|PMID:22378279|PMID:22382559|PMID:22402074|PMID:22402334|PMID:22429796|PMID:22573844|PMID:22581653|PMID:22653970|PMID:22677073|PMID:22876326|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23304551|PMID:23338923|PMID:23347029|PMID:23465283|PMID:23631430|PMID:23861362|PMID:23935525|PMID:23936059|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24217263|PMID:24334129|PMID:24363352|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24687331|PMID:24973560|PMID:25028483|PMID:25119684|PMID:25348405|PMID:25417810|PMID:25447171|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25914329|PMID:25925977|PMID:25967940|PMID:26063740|PMID:26129877|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26332594|PMID:26383259|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26704558|PMID:26743238|PMID:26746457|PMID:26846766|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27041096|PMID:27041150|PMID:27153395|PMID:27231019|PMID:27650965|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28166811|PMID:28255936|PMID:28302345|PMID:28360401|PMID:28431243|PMID:28449774|PMID:28472724|PMID:28492532|PMID:28532774|PMID:28704380|PMID:28807990|PMID:28988457|PMID:29247119|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:30041777|PMID:30086531|PMID:30246897|PMID:30276209|PMID:30369311|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30996762|PMID:31337358|PMID:31358886|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31737537|PMID:32009526|PMID:32048431|PMID:32238909|PMID:32475984|PMID:34008892|PMID:34135346|PMID:34906502|PMID:7889573|PMID:8635257|PMID:8700910|PMID:8799887|PMID:8914737 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110645 long QT syndrome 2 ISO RGD:732101 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 | ClinVar Annotator: match by term: Long QT syndrome 2, acquired, susceptibility to PMID:8995352|PMID:9024139|PMID:9452080|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110645 long QT syndrome 2 ISO RGD:732101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 | ClinVar Annotator: match by term: Long QT syndrome 2, acquired, susceptibility to PMID:10086971|PMID:10187793|PMID:10220144|PMID:10220146|PMID:10226095|PMID:10483966|PMID:10560244|PMID:10735633|PMID:10753933|PMID:10807545|PMID:10841244|PMID:10862094|PMID:10862104|PMID:10973849|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11668641|PMID:11741928|PMID:11802537|PMID:11854117|PMID:11997281|PMID:12021266|PMID:12175777|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12477631|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12741719|PMID:12775564|PMID:12775586|PMID:12808265|PMID:12829173|PMID:12877697|PMID:14642687|PMID:14661677|PMID:14720170|PMID:14760488|PMID:14975928|PMID:14998624|PMID:15051636|PMID:15090700|PMID:15176425|PMID:15242738|PMID:15466642|PMID:15522280|PMID:15572053|PMID:15599693|PMID:15746444|PMID:15760896|PMID:15840476|PMID:15851119|PMID:15913580|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16155735|PMID:16166152|PMID:16199547|PMID:16244680|PMID:16253915|PMID:16361248|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16487223|PMID:16720674|PMID:16754261|PMID:16818214|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17445409|PMID:17531263|PMID:17560885|PMID:17576681|PMID:17597962|PMID:17905336|PMID:18060054|PMID:18222468|PMID:18222980|PMID:18426444|PMID:18441445|PMID:18464931|PMID:18551196|PMID:18593567|PMID:18596570|PMID:18690032|PMID:18752142|PMID:18776039|PMID:18808722|PMID:19019189|PMID:19038855|PMID:19057127|PMID:19070294|PMID:19160088|PMID:19169982|PMID:19305409|PMID:19306396|PMID:19322600|PMID:19490267|PMID:19490382|PMID:19668779|PMID:19673885|PMID:19716085|PMID:19731233|PMID:19804510|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20167303|PMID:20181576|PMID:20197117|PMID:20301308|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20931094|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21109023|PMID:21185501|PMID:21215473|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21490315|PMID:21499742|PMID:21573751|PMID:21661061|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21779290|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22245016|PMID:22378279|PMID:22382559|PMID:22402074|PMID:22402334|PMID:22429796|PMID:22573844|PMID:22581653|PMID:22653970|PMID:22677073|PMID:22764740|PMID:22876326|PMID:22927196|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23304551|PMID:23338923|PMID:23347029|PMID:23382499|PMID:23465283|PMID:23546015|PMID:23631430|PMID:23861362|PMID:23899126|PMID:23935525|PMID:23936059|PMID:23980196|PMID:23995044|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24217263|PMID:24334129|PMID:24363352|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24687331|PMID:24973560|PMID:25028483|PMID:25074935|PMID:25119684|PMID:25294783|PMID:25417810|PMID:25447171|PMID:25608792|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25819988|PMID:25914329|PMID:25925977|PMID:25929701|PMID:25947924|PMID:25967940|PMID:26063740|PMID:26066609|PMID:26105569|PMID:26129877|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26332594|PMID:26383259|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26846766|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27041096|PMID:27041150|PMID:27153395|PMID:27231019|PMID:27492745|PMID:27555138|PMID:27650965|PMID:27711072|PMID:27761169|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28255936|PMID:28280240|PMID:28302345|PMID:28360401|PMID:28431243|PMID:28449774|PMID:28472724|PMID:28492532 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110645 long QT syndrome 2 ISO RGD:732101 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 | ClinVar Annotator: match by term: Long QT syndrome 2, acquired, susceptibility to PMID:28532774|PMID:28566242|PMID:28589536|PMID:28606196|PMID:2870438|PMID:28704380|PMID:28798025|PMID:28807990|PMID:28861002|PMID:28988457|PMID:29016939|PMID:29192238|PMID:29247119|PMID:29331839|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29925740|PMID:29957233|PMID:30041777|PMID:30086531|PMID:30246897|PMID:30276209|PMID:30327538|PMID:30369311|PMID:30530868|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30847666|PMID:31114860|PMID:31337358|PMID:31358886|PMID:31493592|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31628797|PMID:31696929|PMID:31737537|PMID:32009526|PMID:32038248|PMID:32048431|PMID:32191791|PMID:32233023|PMID:32238909|PMID:32253972|PMID:32383558|PMID:32475984|PMID:32508047|PMID:32659924|PMID:32893267|PMID:32940533|PMID:33198487|PMID:33517668|PMID:33764691|PMID:34002542|PMID:34008892|PMID:34135346|PMID:34309407|PMID:34319147|PMID:34426522|PMID:34502138|PMID:34546463|PMID:34841674|PMID:34906502|PMID:35688147|PMID:36102233|PMID:36197721|PMID:7889573|PMID:8635257|PMID:8700910|PMID:8799887|PMID:8914737|PMID:8995352|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110645 long QT syndrome 2 ISO RGD:732101 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 | ClinVar Annotator: match by term: Long QT syndrome 2, acquired, susceptibility to | ClinVar Annotator: match by term: Long QT syndrome, bradycardia-induced PMID:10086971|PMID:10187793|PMID:10220144|PMID:10220146|PMID:10226095|PMID:10483966|PMID:10560244|PMID:10735633|PMID:10753933|PMID:10807545|PMID:10841244|PMID:10862094|PMID:10862104|PMID:10973849|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11668641|PMID:11741928|PMID:11802537|PMID:11854117|PMID:11997281|PMID:12021266|PMID:12175777|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12477631|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12741719|PMID:12775564|PMID:12775586|PMID:12808265|PMID:12829173|PMID:12877697|PMID:14642687|PMID:14661677|PMID:14720170|PMID:14760488|PMID:14975928|PMID:14998624|PMID:15051636|PMID:15090700|PMID:15176425|PMID:15242738|PMID:15466642|PMID:15522280|PMID:15572053|PMID:15599693|PMID:15746444|PMID:15760896|PMID:15840476|PMID:15851119|PMID:15913580|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16155735|PMID:16166152|PMID:16199547|PMID:16244680|PMID:16253915|PMID:16361248|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16487223|PMID:16720674|PMID:16754261|PMID:16818214|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17445409|PMID:17531263|PMID:17560885|PMID:17576681|PMID:17597962|PMID:17905336|PMID:18060054|PMID:18222468|PMID:18222980|PMID:18426444|PMID:18441445|PMID:18464931|PMID:18551196|PMID:18593567|PMID:18596570|PMID:18690032|PMID:18752142|PMID:18776039|PMID:18808722|PMID:19019189|PMID:19038855|PMID:19057127|PMID:19070294|PMID:19160088|PMID:19169982|PMID:19305409|PMID:19306396|PMID:19322600|PMID:19490267|PMID:19490382|PMID:19668779|PMID:19673885|PMID:19716085|PMID:19731233|PMID:19804510|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20167303|PMID:20181576|PMID:20197117|PMID:20301308|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20931094|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21109023|PMID:21185501|PMID:21215473|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21490315|PMID:21499742|PMID:21573751|PMID:21661061|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21779290|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22245016|PMID:22378279|PMID:22382559|PMID:22402074|PMID:22402334|PMID:22429796|PMID:22573844|PMID:22581653|PMID:22584458|PMID:22653970|PMID:22677073|PMID:22764740|PMID:22876326|PMID:22927196|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23304551|PMID:23338923|PMID:23347029|PMID:23382499|PMID:23465283|PMID:23546015|PMID:23631430|PMID:23861362|PMID:23899126|PMID:23935525|PMID:23936059|PMID:23980196|PMID:23995044|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24217263|PMID:24223155|PMID:24334129|PMID:24363352|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24687331|PMID:24973560|PMID:25028483|PMID:25074935|PMID:25119684|PMID:25294783|PMID:25417810|PMID:25447171|PMID:25608792|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25819988|PMID:25914329|PMID:25925977|PMID:25929701|PMID:25947924|PMID:25967940|PMID:26063740|PMID:26066609|PMID:26105569|PMID:26129877|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26332594|PMID:26383259|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26846766|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27041096|PMID:27041150|PMID:27153395|PMID:27231019|PMID:27492745|PMID:27555138|PMID:27650965|PMID:27711072|PMID:27761169|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28255936|PMID:28280240|PMID:28302345|PMID:28360401|PMID:28431243|PMID:28449774 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110645 long QT syndrome 2 ISO RGD:732101 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 | ClinVar Annotator: match by term: Long QT syndrome 2, acquired, susceptibility to | ClinVar Annotator: match by term: Long QT syndrome, bradycardia-induced PMID:28472724|PMID:28492532|PMID:28532774|PMID:28566242|PMID:28589536|PMID:28606196|PMID:2870438|PMID:28704380|PMID:28798025|PMID:28807990|PMID:28861002|PMID:28988457|PMID:29016939|PMID:29192238|PMID:29247119|PMID:29255176|PMID:29331839|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29925740|PMID:29957233|PMID:30041777|PMID:30086531|PMID:30246897|PMID:30276209|PMID:30327538|PMID:30369311|PMID:30530868|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31114860|PMID:31337358|PMID:31358886|PMID:31493592|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31628797|PMID:31696929|PMID:31737537|PMID:32009526|PMID:32038248|PMID:32048431|PMID:32191791|PMID:32233023|PMID:32238909|PMID:32253972|PMID:32383558|PMID:32475984|PMID:32508047|PMID:32659924|PMID:32893267|PMID:32940533|PMID:33198487|PMID:33517668|PMID:33764691|PMID:34002542|PMID:34008892|PMID:34135346|PMID:34309407|PMID:34319147|PMID:34426522|PMID:34502138|PMID:34546463|PMID:34712263|PMID:34841674|PMID:34906502|PMID:35688147|PMID:36102233|PMID:36197721|PMID:7889573|PMID:8635257|PMID:8700910|PMID:8799887|PMID:8914737|PMID:8995352|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110650 long QT syndrome 9 ISO RGD:732101 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2/9, digenic PMID:14661677|PMID:15840476|PMID:17060380|PMID:19716085|PMID:19862833|PMID:22245016|PMID:22581653|PMID:23139254|PMID:23174487|PMID:23631430|PMID:23936059|PMID:24021552|PMID:24606995|PMID:25417810|PMID:25741868|PMID:25967940|PMID:26213684|PMID:26383259|PMID:26746457|PMID:27231019|PMID:28492532|PMID:30327538|PMID:30369311|PMID:30704477|PMID:31737537|PMID:32048431 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:19716085|PMID:22581653|PMID:24033266|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26467025|PMID:28492532 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15176425|PMID:16244680|PMID:22402334|PMID:22581653|PMID:25741868|PMID:28492532 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:14566 disease of cellular proliferation ISO RGD:732101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24830940 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10220146|PMID:10226095|PMID:10483966|PMID:10508236|PMID:10517660|PMID:10560244|PMID:10690305|PMID:10720411|PMID:10735633|PMID:10744792|PMID:10753933|PMID:10807545|PMID:10841244|PMID:10862094|PMID:10862104|PMID:10973849|PMID:10987356|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11668641|PMID:11741928|PMID:11802537|PMID:11854117|PMID:11997281|PMID:12021266|PMID:12062363|PMID:12175777|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12442276|PMID:12477631|PMID:12554641|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12775564|PMID:12775586|PMID:12808265|PMID:12829173|PMID:12837749|PMID:12877697|PMID:14642687|PMID:14661677|PMID:14714110|PMID:14720170|PMID:14760488|PMID:14975928|PMID:14998624|PMID:15028050|PMID:15043509|PMID:15051636|PMID:15090700|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15242738|PMID:15280442|PMID:15364333|PMID:15466642|PMID:15475579|PMID:15500450|PMID:15522280|PMID:15572050|PMID:15572053|PMID:15599693|PMID:15670565|PMID:15699249|PMID:15746444|PMID:15760896|PMID:15840476|PMID:15851119|PMID:15851171|PMID:15851228|PMID:15851652|PMID:15913580|PMID:16029385|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16155735|PMID:16166152|PMID:16199547|PMID:16244680|PMID:16253912|PMID:16253915|PMID:16265869|PMID:16361248|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16470702|PMID:16487223|PMID:16720674|PMID:16754261|PMID:16818214|PMID:16831322|PMID:16842670|PMID:16922724|PMID:16923798|PMID:16937190|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17171344|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17438606|PMID:17438609|PMID:17445409|PMID:17531263|PMID:17560885|PMID:17569659|PMID:17576681|PMID:17576861|PMID:17597962|PMID:17823114|PMID:17876385|PMID:17905336|PMID:17908752|PMID:18004376|PMID:18060054|PMID:18218237|PMID:18222468|PMID:18222980|PMID:18348270|PMID:18386051|PMID:18426444|PMID:18441445|PMID:18464931|PMID:18468596|PMID:18508782|PMID:18551196|PMID:18593567|PMID:18596570|PMID:18675227|PMID:18752142|PMID:18774102|PMID:18776039|PMID:18808722|PMID:18848812|PMID:18955593|PMID:19019189|PMID:19038855|PMID:19057127|PMID:19065538|PMID:19070294|PMID:19100075|PMID:19136169|PMID:19160088|PMID:19165230|PMID:19169982|PMID:19184172|PMID:19187913|PMID:19215240|PMID:19305409|PMID:19306396|PMID:19322600|PMID:19324319|PMID:19352046|PMID:19371231|PMID:19419905|PMID:19443486|PMID:19490267|PMID:19490382|PMID:19668779|PMID:19673885|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19804510|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20167303|PMID:20181576|PMID:20197117|PMID:20348026|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20876384|PMID:20931094|PMID:20960616|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21109023|PMID:21130771|PMID:21185499|PMID:21185501|PMID:21215473|PMID:21216356|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21308345|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21483829|PMID:21490315|PMID:21496174|PMID:21499742|PMID:21536673|PMID:21573751|PMID:21661061|PMID:21703926|PMID:21737021|PMID:21769575|PMID:21779290|PMID:21806934|PMID:21956039|PMID:21960720|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22245016|PMID:22314138|PMID:22359612|PMID:22373669|PMID:22378279|PMID:22396785|PMID:22402074|PMID:22402334|PMID:22429796|PMID:22515331|PMID:22573844|PMID:22580281|PMID:22581653|PMID:22617876|PMID:22653970|PMID:22677073|PMID:22727609|PMID:22821100|PMID:22876326|PMID:22882672|PMID:22885918|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23022675|PMID:23098067|PMID:23139254|PMID:23158531|PMID:231588531|PMID:23174487|PMID:23207121|PMID:23300672|PMID:23303164|PMID:23304551|PMID:23316740|PMID:23338923|PMID:23347029|PMID:23465283|PMID:23470493|PMID:23471968|PMID:23546015|PMID:23555008 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:23631430|PMID:23721480|PMID:23861362|PMID:23935525|PMID:23936059|PMID:23980196|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24103226|PMID:24217263|PMID:24223155|PMID:24322056|PMID:24334129|PMID:24363352|PMID:24388587|PMID:24400717|PMID:24530480|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24667783|PMID:24679481|PMID:24973560|PMID:25008322|PMID:25028483|PMID:25119684|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25351510|PMID:25417810|PMID:25447171|PMID:25576780|PMID:25606385|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25809256|PMID:25819988|PMID:25914329|PMID:25923442|PMID:25925977|PMID:25929701|PMID:25967940|PMID:25987402|PMID:26063740|PMID:26066609|PMID:26129877|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26189708|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26403377|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26688388|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26846766|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27153395|PMID:27231019|PMID:27251404|PMID:27379800|PMID:27650965|PMID:27761169|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:27930701|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28087566|PMID:28166811|PMID:28255936|PMID:28302345|PMID:28349240|PMID:28360401|PMID:28431243|PMID:28449774|PMID:28472724|PMID:28492532|PMID:28532774|PMID:28606196|PMID:28704380|PMID:28749435|PMID:28794082|PMID:28807990|PMID:28855170|PMID:28861002|PMID:28988457|PMID:29117522|PMID:29214556|PMID:29247119|PMID:29330128|PMID:29431731|PMID:29497013|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29725305|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29881912|PMID:29884292|PMID:30012873|PMID:30041777|PMID:30086531|PMID:30244407|PMID:30246897|PMID:30276209|PMID:30291343|PMID:30369311|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30988392|PMID:30996762|PMID:31337358|PMID:31358886|PMID:31493592|PMID:31522018|PMID:31535183|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31618753|PMID:31737537|PMID:31882846|PMID:32009526|PMID:32048431|PMID:32238909|PMID:32475984|PMID:33258288|PMID:34135346|PMID:5417810|PMID:7889573|PMID:8635257|PMID:8700910|PMID:8799887|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9806971|PMID:9927399 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:24388587|PMID:24400717|PMID:24530480|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24667783|PMID:24973560|PMID:25028483|PMID:25074935|PMID:25119684|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25351510|PMID:25417810|PMID:25447171|PMID:25576780|PMID:25606385|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25819988|PMID:25914329|PMID:25925977|PMID:25929701|PMID:25967940|PMID:26063740|PMID:26066609|PMID:26105569|PMID:26129877|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27153395|PMID:27231019|PMID:27251404|PMID:27379800|PMID:27650965|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:27930701|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28087566|PMID:28255936|PMID:28280240|PMID:28302345|PMID:28349240|PMID:28360401|PMID:28431243|PMID:28449774|PMID:28472724|PMID:28492532|PMID:28532774|PMID:28606196|PMID:28704380|PMID:28749435|PMID:28794082|PMID:28807990|PMID:28855170|PMID:28861002|PMID:28988457|PMID:29117522|PMID:29247119|PMID:29431731|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29725305|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29884292|PMID:29925740|PMID:30012873|PMID:30041777|PMID:30086531|PMID:30244407|PMID:30246897|PMID:30276209|PMID:30291343|PMID:30369311|PMID:30530868|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31337358|PMID:31358886|PMID:31493592|PMID:31535183|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31618753|PMID:31696929|PMID:31737537|PMID:31882846|PMID:32009526|PMID:32048431|PMID:32233023|PMID:32238909|PMID:32383558|PMID:32475984|PMID:33258288|PMID:33517668|PMID:34135346|PMID:34309407|PMID:34502138|PMID:5417810|PMID:7889573|PMID:8635257|PMID:8799887|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10220146|PMID:10226095|PMID:10483966|PMID:10508236|PMID:10517660|PMID:10560244|PMID:10690305|PMID:10720411|PMID:10735633|PMID:10744792|PMID:10753933|PMID:10807545|PMID:10841244|PMID:10862094|PMID:10862104|PMID:10973849|PMID:10987356|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11668641|PMID:11741928|PMID:11802537|PMID:11854117|PMID:11997281|PMID:12021266|PMID:12062363|PMID:12175777|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12442276|PMID:12477631|PMID:12554641|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12741719|PMID:12775564|PMID:12775586|PMID:12808265|PMID:12829173|PMID:12837749|PMID:12877697|PMID:14661677|PMID:14714110|PMID:14720170|PMID:14760488|PMID:14975928|PMID:14998624|PMID:15028050|PMID:15043509|PMID:15051636|PMID:15090700|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15242738|PMID:15280442|PMID:15364333|PMID:15466642|PMID:15500450|PMID:15522280|PMID:15545400|PMID:15572050|PMID:15572053|PMID:15599693|PMID:15635208|PMID:15670565|PMID:15699249|PMID:15746444|PMID:15760896|PMID:15840476|PMID:15851119|PMID:15851171|PMID:15851228|PMID:15851652|PMID:15913580|PMID:16029385|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16155735|PMID:16166152|PMID:16199547|PMID:16244680|PMID:16253912|PMID:16253915|PMID:16265869|PMID:16361248|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16470702|PMID:16487223|PMID:16720674|PMID:16754261|PMID:16818214|PMID:16831322|PMID:16842670|PMID:16922724|PMID:16937190|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17171344|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17438606|PMID:17438609|PMID:17445409|PMID:17531263|PMID:17560885|PMID:17569659|PMID:17576681|PMID:17576861|PMID:17597962|PMID:17823114|PMID:17876385|PMID:17905336|PMID:17908752|PMID:18004376|PMID:18060054|PMID:18093521|PMID:18218237|PMID:18222468|PMID:18222980|PMID:18348270|PMID:18386051|PMID:18426444|PMID:18441445|PMID:18464931|PMID:18468596|PMID:18508782|PMID:18551196|PMID:18593567|PMID:18596570|PMID:18675227|PMID:18690032|PMID:18752142|PMID:18776039|PMID:18791070|PMID:18808722|PMID:18848812|PMID:19019189|PMID:19038855|PMID:19057127|PMID:19065538|PMID:19070294|PMID:19100075|PMID:19136169|PMID:19160088|PMID:19165230|PMID:19169982|PMID:19184172|PMID:19187913|PMID:19215240|PMID:19305409|PMID:19306396|PMID:19322600|PMID:19324319|PMID:19352046|PMID:19371231|PMID:19413965|PMID:19419905|PMID:19443486|PMID:19490267|PMID:19490382|PMID:19668779|PMID:19673885|PMID:19694797|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19804510|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20167303|PMID:20181576|PMID:20197117|PMID:20301308|PMID:20348026|PMID:20486126|PMID:20541041|PMID:20544339|PMID:20659946|PMID:20670193|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20931094|PMID:20960616|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21109023|PMID:21130771|PMID:21185501|PMID:21215473|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21308345|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21483829|PMID:21490315|PMID:21496174|PMID:21499742|PMID:21536673|PMID:21573751|PMID:21661061|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21779290|PMID:21798421|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22245016|PMID:22314138|PMID:22373669|PMID:22378279|PMID:22396785|PMID:22402334|PMID:22429796|PMID:22515331|PMID:22573844|PMID:22580281|PMID:22581653|PMID:22653970|PMID:22677073|PMID:22727609|PMID:22821100|PMID:22876326|PMID:22882672|PMID:22885918|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23098067|PMID:23136156|PMID:23139254|PMID:23158531|PMID:231588531|PMID:23174487|PMID:23300672|PMID:23303164|PMID:23304551|PMID:23316740|PMID:23338923|PMID:23347029|PMID:23382499|PMID:23465283|PMID:23470493 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:23471968|PMID:23546015|PMID:23555008|PMID:23631430|PMID:23861362|PMID:23890619|PMID:23935525|PMID:23936059|PMID:23975098|PMID:23980196|PMID:23995044|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24103226|PMID:24217263|PMID:24223155|PMID:24291113|PMID:24334129|PMID:24363352|PMID:24388587|PMID:24400717|PMID:24530480|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24667783|PMID:24973560|PMID:25028483|PMID:25074935|PMID:25119684|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25351510|PMID:25417810|PMID:25447171|PMID:25576780|PMID:25606385|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25819988|PMID:25914329|PMID:25925977|PMID:25929701|PMID:25967940|PMID:25974115|PMID:26063740|PMID:26066609|PMID:26105569|PMID:26129877|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27059892|PMID:27064559|PMID:27153395|PMID:27231019|PMID:27251404|PMID:27261823|PMID:27379800|PMID:27492745|PMID:27555138|PMID:27650965|PMID:27711072|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:27930701|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28280240|PMID:28292826|PMID:28302345|PMID:28349240|PMID:28360401|PMID:28431243|PMID:28449774|PMID:28472724|PMID:28491588|PMID:28492532|PMID:28532774|PMID:28566242|PMID:28589536|PMID:28606196|PMID:28704380|PMID:28749435|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28861002|PMID:28988457|PMID:29117522|PMID:29192238|PMID:29247119|PMID:29330128|PMID:29331839|PMID:29431731|PMID:29497013|PMID:29544605|PMID:29555771|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29725305|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29884292|PMID:29925740|PMID:29957233|PMID:30012873|PMID:30041777|PMID:30086531|PMID:30123799|PMID:30244407|PMID:30246897|PMID:30276209|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30403391|PMID:30530868|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31320904|PMID:31337358|PMID:31358886|PMID:31493592|PMID:31535183|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31618753|PMID:31628797|PMID:31696929|PMID:31737537|PMID:31844156|PMID:31882846|PMID:32009526|PMID:32038248|PMID:32048431|PMID:32233023|PMID:32238909|PMID:32311972|PMID:32383558|PMID:32475984|PMID:32659924|PMID:32893267|PMID:32940533|PMID:33198487|PMID:33258288|PMID:33517668|PMID:34002542|PMID:34135346|PMID:34309407|PMID:34426522|PMID:34502138|PMID:34841674|PMID:36197721|PMID:5417810|PMID:7889573|PMID:8635257|PMID:8799887|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10220146|PMID:10226095|PMID:10483966|PMID:10508236|PMID:10517660|PMID:10560244|PMID:10690305|PMID:10720411|PMID:10735633|PMID:10744792|PMID:10753933|PMID:10807545|PMID:10841244|PMID:10862094|PMID:10862104|PMID:10973849|PMID:10987356|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11668641|PMID:11741928|PMID:11802537|PMID:11854117|PMID:11997281|PMID:12021266|PMID:12062363|PMID:12175777|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12442276|PMID:12477631|PMID:12554641|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12741719|PMID:12775564|PMID:12775586|PMID:12808265|PMID:12829173|PMID:12837749|PMID:12877697|PMID:14661677|PMID:14714110|PMID:14720170|PMID:14760488|PMID:14975928|PMID:14998624|PMID:15028050|PMID:15043509|PMID:15051636|PMID:15090700|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15242738|PMID:15280442|PMID:15364333|PMID:15466642|PMID:15500450|PMID:15522280|PMID:15545400|PMID:15572050|PMID:15572053|PMID:15599693|PMID:15635208|PMID:15670565|PMID:15699249|PMID:15746444|PMID:15760896|PMID:15840476|PMID:15851119|PMID:15851171|PMID:15851228|PMID:15851652|PMID:15913580|PMID:16029385|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16155735|PMID:16166152|PMID:16199547|PMID:16244680|PMID:16253912|PMID:16253915|PMID:16265869|PMID:16361248|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16470702|PMID:16487223|PMID:16720674|PMID:16754261|PMID:16818214|PMID:16831322|PMID:16842670|PMID:16922724|PMID:16937190|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17171344|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17438606|PMID:17438609|PMID:17445409|PMID:17531263|PMID:17560885|PMID:17569659|PMID:17576681|PMID:17576861|PMID:17597962|PMID:17823114|PMID:17876385|PMID:17905336|PMID:17908752|PMID:18004376|PMID:18060054|PMID:18093521|PMID:18218237|PMID:18222468|PMID:18222980|PMID:18348270|PMID:18386051|PMID:18426444|PMID:18441445|PMID:18464931|PMID:18468596|PMID:18508782|PMID:18551196|PMID:18593567|PMID:18596570|PMID:18675227|PMID:18690032|PMID:18752142|PMID:18776039|PMID:18791070|PMID:18808722|PMID:18848812|PMID:19019189|PMID:19038855|PMID:19057127|PMID:19065538|PMID:19070294|PMID:19100075|PMID:19136169|PMID:19160088|PMID:19165230|PMID:19169982|PMID:19184172|PMID:19187913|PMID:19215240|PMID:19305409|PMID:19306396|PMID:19322600|PMID:19324319|PMID:19352046|PMID:19371231|PMID:19413965|PMID:19419905|PMID:19443486|PMID:19490267|PMID:19490382|PMID:19668779|PMID:19673885|PMID:19694797|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19804510|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20167303|PMID:20181576|PMID:20197117|PMID:20301308|PMID:20348026|PMID:20486126|PMID:20541041|PMID:20544339|PMID:20659946|PMID:20670193|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20931094|PMID:20960616|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21109023|PMID:21130771|PMID:21185501|PMID:21215473|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21308345|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21483829|PMID:21490315|PMID:21496174|PMID:21499742|PMID:21536673|PMID:21573751|PMID:21661061|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21779290|PMID:21798421|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22245016|PMID:22314138|PMID:22373669|PMID:22378279|PMID:22396785|PMID:22402334|PMID:22429796|PMID:22515331|PMID:22573844|PMID:22580281|PMID:22581653|PMID:22653970|PMID:22677073|PMID:22727609|PMID:22764740|PMID:22821100|PMID:22876326|PMID:22882672|PMID:22885918|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23098067|PMID:23136156|PMID:23139254|PMID:23158531|PMID:231588531|PMID:23174487|PMID:23300672|PMID:23303164|PMID:23304551|PMID:23316740|PMID:23338923|PMID:23347029|PMID:23382499|PMID:23465283 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:23470493|PMID:23471968|PMID:23546015|PMID:23555008|PMID:23631430|PMID:23861362|PMID:23890619|PMID:23935525|PMID:23936059|PMID:23975098|PMID:23980196|PMID:23995044|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24103226|PMID:24217263|PMID:24223155|PMID:24291113|PMID:24334129|PMID:24363352|PMID:24388587|PMID:24400717|PMID:24530480|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24667783|PMID:24973560|PMID:25028483|PMID:25074935|PMID:25119684|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25351510|PMID:25417810|PMID:25447171|PMID:25576780|PMID:25606385|PMID:25608792|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25819988|PMID:25914329|PMID:25925977|PMID:25929701|PMID:25947924|PMID:25967940|PMID:25974115|PMID:26063740|PMID:26066609|PMID:26105569|PMID:26129877|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27059892|PMID:27064559|PMID:27153395|PMID:27231019|PMID:27251404|PMID:27261823|PMID:27379800|PMID:27492745|PMID:27555138|PMID:27650965|PMID:27711072|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:27930701|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28280240|PMID:28292826|PMID:28302345|PMID:28349240|PMID:28360401|PMID:28431243|PMID:28449774|PMID:28472724|PMID:28491588|PMID:28492532|PMID:28532774|PMID:28566242|PMID:28589536|PMID:28606196|PMID:2870438|PMID:28704380|PMID:28749435|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28861002|PMID:28912206|PMID:28988457|PMID:29016939|PMID:29117522|PMID:29192238|PMID:29247119|PMID:29330128|PMID:29331839|PMID:29431731|PMID:29497013|PMID:29544605|PMID:29555771|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29725305|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29884292|PMID:29925740|PMID:29957233|PMID:30012873|PMID:30041777|PMID:30086531|PMID:30123799|PMID:30244407|PMID:30246897|PMID:30276209|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30403391|PMID:30530868|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31114860|PMID:31320904|PMID:31337358|PMID:31358886|PMID:31448785|PMID:31493592|PMID:31535183|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31618753|PMID:31628797|PMID:31696929|PMID:31737537|PMID:31844156|PMID:31882846|PMID:32009526|PMID:32038248|PMID:32048431|PMID:32191791|PMID:32233023|PMID:32238909|PMID:32253972|PMID:32311972|PMID:32383558|PMID:32475984|PMID:32659924|PMID:32893267|PMID:32940533|PMID:33198487|PMID:33258288|PMID:33517668|PMID:34002542|PMID:34135346|PMID:34309407|PMID:34426522|PMID:34502138|PMID:34546463|PMID:34841674|PMID:35688147|PMID:36197721|PMID:5417810|PMID:7889573|PMID:8635257|PMID:8799887|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:22947121|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23022675|PMID:23098067|PMID:23136156|PMID:23139254|PMID:23158531|PMID:231588531|PMID:23174487|PMID:23207121|PMID:23300672|PMID:23303164|PMID:23304551|PMID:23316740|PMID:23338923|PMID:23347029|PMID:23351921|PMID:23382499|PMID:23465283|PMID:23470493|PMID:23471968|PMID:23546015|PMID:23555008|PMID:23631430|PMID:23721480|PMID:23861362|PMID:23890619|PMID:23899126|PMID:23935525|PMID:23936059|PMID:23975098|PMID:23980196|PMID:23995044|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24103226|PMID:24217263|PMID:24223155|PMID:24291113|PMID:24322056|PMID:24334129|PMID:24363352|PMID:24388587|PMID:24400717|PMID:24530480|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24667783|PMID:24679481|PMID:24725272|PMID:24973560|PMID:25008322|PMID:25028483|PMID:25074935|PMID:25119684|PMID:25140878|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25351510|PMID:25417810|PMID:25447171|PMID:25576780|PMID:25606385|PMID:25608792|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25809256|PMID:25819988|PMID:25914329|PMID:25923442|PMID:25925977|PMID:25929701|PMID:25947924|PMID:25967940|PMID:25974115|PMID:25987402|PMID:26063740|PMID:26066609|PMID:26105569|PMID:26129877|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173150|PMID:26187847|PMID:26213684|PMID:26220970|PMID:26228265|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26403377|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26688388|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26846766|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27059892|PMID:27064559|PMID:27153395|PMID:27231019|PMID:27251404|PMID:27261823|PMID:27379800|PMID:27492745|PMID:27555138|PMID:27650965|PMID:27711072|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:27930701|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28280240|PMID:28292826|PMID:28302345|PMID:28349240|PMID:28360401|PMID:28431243|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491588|PMID:28492532|PMID:28532774|PMID:28549997|PMID:28566242|PMID:28589536|PMID:28606196|PMID:2870438|PMID:28704380|PMID:28749435|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28861002|PMID:28912206|PMID:28988457|PMID:29016939|PMID:29117522|PMID:29192238|PMID:29247119|PMID:29330128|PMID:29331839|PMID:29396286|PMID:29431731|PMID:29497013|PMID:29544605|PMID:29555771|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29725305|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29881912|PMID:29884292|PMID:29925740|PMID:29957233|PMID:30012873|PMID:30036649|PMID:30041777|PMID:30086531|PMID:30123799|PMID:30244407|PMID:30246897|PMID:30276209|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30403391|PMID:30481776|PMID:30530868|PMID:30533098|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30770456|PMID:30847666|PMID:30988392|PMID:30996762|PMID:31114860|PMID:31137166|PMID:31320904|PMID:31337358|PMID:31358886|PMID:31448785|PMID:31493592|PMID:31522018|PMID:31535183|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31618753|PMID:31628797|PMID:31696929|PMID:31737537|PMID:31844156|PMID:31882846|PMID:32009526|PMID:32038248|PMID:32048431|PMID:32145446|PMID:32191791|PMID:32233023|PMID:32238909|PMID:32253972|PMID:32311972|PMID:32383558|PMID:32475984|PMID:32659924|PMID:32893267|PMID:32940533|PMID:33198487|PMID:33258288|PMID:33517668|PMID:34002542|PMID:34135346|PMID:34309407|PMID:34319147|PMID:34426522|PMID:34502138|PMID:34546463|PMID:34716268|PMID:34841674|PMID:35688147|PMID:36197721|PMID:5417810|PMID:7889573|PMID:8635257|PMID:8700910|PMID:8799887|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10220146|PMID:10226095|PMID:10483966|PMID:10508236|PMID:10517660|PMID:10560244|PMID:10690305|PMID:10720411|PMID:10735633|PMID:10744792|PMID:10753933|PMID:10807545|PMID:10841244|PMID:10862094|PMID:10862104|PMID:10973849|PMID:10987356|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11668641|PMID:11741928|PMID:11802537|PMID:11854117|PMID:11997281|PMID:12021266|PMID:12062363|PMID:12175777|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12442276|PMID:12477631|PMID:12554641|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12741719|PMID:12771194|PMID:12775564|PMID:12775586|PMID:12808265|PMID:12829173|PMID:12837749|PMID:12877697|PMID:14642687|PMID:14661677|PMID:14714110|PMID:14720170|PMID:14760488|PMID:14975928|PMID:14998624|PMID:15028050|PMID:15043509|PMID:15051636|PMID:15090700|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15181157|PMID:15242738|PMID:15280442|PMID:15364333|PMID:15466642|PMID:15475579|PMID:15500450|PMID:15522280|PMID:15545400|PMID:15572050|PMID:15572053|PMID:15599693|PMID:15635208|PMID:15670565|PMID:15699249|PMID:15746444|PMID:15760896|PMID:15840476|PMID:15851119|PMID:15851171|PMID:15851228|PMID:15851652|PMID:15913580|PMID:16029385|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16155735|PMID:16166152|PMID:16199547|PMID:16244680|PMID:16253912|PMID:16253915|PMID:16265869|PMID:16361248|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16470702|PMID:16487223|PMID:16720674|PMID:16754261|PMID:16818214|PMID:16831322|PMID:16842670|PMID:16922724|PMID:16923798|PMID:16937190|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17171344|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17438606|PMID:17438609|PMID:17445409|PMID:17531263|PMID:17560885|PMID:17569659|PMID:17576681|PMID:17576861|PMID:17597962|PMID:17823114|PMID:17876385|PMID:17905336|PMID:17908752|PMID:18004376|PMID:18060054|PMID:18093521|PMID:18218237|PMID:18222468|PMID:18222980|PMID:18348270|PMID:18386051|PMID:18426444|PMID:18441445|PMID:18464931|PMID:18468596|PMID:18508782|PMID:18551196|PMID:18593567|PMID:18596570|PMID:18675227|PMID:18690032|PMID:18692916|PMID:18752142|PMID:18776039|PMID:18791070|PMID:18808722|PMID:18848812|PMID:18955593|PMID:19019189|PMID:19038855|PMID:19057127|PMID:19065538|PMID:19070294|PMID:19100075|PMID:19136169|PMID:19139152|PMID:19160088|PMID:19165230|PMID:19169982|PMID:19174314|PMID:19184172|PMID:19187913|PMID:19215240|PMID:19305409|PMID:19306396|PMID:19322600|PMID:19324319|PMID:19340359|PMID:19352046|PMID:19371231|PMID:19413965|PMID:19419905|PMID:19443486|PMID:19490267|PMID:19490382|PMID:19668779|PMID:19673885|PMID:19694797|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19804510|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20133899|PMID:20167303|PMID:20181576|PMID:20197117|PMID:20301308|PMID:20348026|PMID:20486126|PMID:20541041|PMID:20544339|PMID:20659946|PMID:20670193|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20876384|PMID:20931094|PMID:20950623|PMID:20960616|PMID:20960620|PMID:20975234|PMID:20979233|PMID:21063070|PMID:21109023|PMID:21130771|PMID:21185501|PMID:21215473|PMID:21216356|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21308345|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21483829|PMID:21490315|PMID:21496174|PMID:21499742|PMID:21536673|PMID:21573751|PMID:21661061|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21779290|PMID:21798421|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22245016|PMID:22314138|PMID:22359612|PMID:22373669|PMID:22378279|PMID:22382559|PMID:22396785|PMID:22402074|PMID:22402334|PMID:22407026|PMID:22429796|PMID:22515331|PMID:22573844|PMID:22580281|PMID:22581653|PMID:22584458|PMID:22653970|PMID:22677073|PMID:22727609|PMID:22764740|PMID:22821100|PMID:22876326|PMID:22882672 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:22885918|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23022675|PMID:23098067|PMID:23136156|PMID:23139254|PMID:23158531|PMID:231588531|PMID:23174487|PMID:23207121|PMID:23300672|PMID:23303164|PMID:23304551|PMID:23316740|PMID:23338923|PMID:23347029|PMID:23351921|PMID:23382499|PMID:23465283|PMID:23470493|PMID:23471968|PMID:23546015|PMID:23555008|PMID:23631430|PMID:23721480|PMID:23861362|PMID:23890619|PMID:23899126|PMID:23935525|PMID:23936059|PMID:23975098|PMID:23980196|PMID:23995044|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24103226|PMID:24217263|PMID:24223155|PMID:24291113|PMID:24322056|PMID:24334129|PMID:24363352|PMID:24388587|PMID:24400717|PMID:24530480|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24667783|PMID:24679481|PMID:24725272|PMID:24973560|PMID:25008322|PMID:25028483|PMID:25074935|PMID:25119684|PMID:25140878|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25351510|PMID:25417810|PMID:25447171|PMID:25576780|PMID:25606385|PMID:25608792|PMID:25626866|PMID:25637381|PMID:25640679|PMID:25649125|PMID:25741868|PMID:25809256|PMID:25819988|PMID:25914329|PMID:25923442|PMID:25925977|PMID:25929701|PMID:25947924|PMID:25967940|PMID:25974115|PMID:25987402|PMID:26063740|PMID:26066609|PMID:26105569|PMID:26129877|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173150|PMID:26187847|PMID:26213684|PMID:26220970|PMID:26228265|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26403377|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26688388|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26846766|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27059892|PMID:27064559|PMID:27153395|PMID:27231019|PMID:27251404|PMID:27261823|PMID:27379800|PMID:27492745|PMID:27555138|PMID:27650965|PMID:27711072|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:27930701|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28280240|PMID:28292826|PMID:28302345|PMID:28349240|PMID:28360401|PMID:28431243|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491588|PMID:28492532|PMID:28532774|PMID:28549997|PMID:28566242|PMID:28589536|PMID:28606196|PMID:2870438|PMID:28704380|PMID:28749435|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28861002|PMID:28912206|PMID:28988457|PMID:29016939|PMID:29117522|PMID:29192238|PMID:29247119|PMID:29255176|PMID:29330128|PMID:29331839|PMID:29396286|PMID:29431731|PMID:29497013|PMID:29544605|PMID:29555771|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29725305|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29881912|PMID:29884292|PMID:29925740|PMID:29957233|PMID:30012873|PMID:30036649|PMID:30041777|PMID:30086531|PMID:30123799|PMID:30244407|PMID:30246897|PMID:30276209|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30403391|PMID:30481776|PMID:30530868|PMID:30533098|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30770456|PMID:30847666|PMID:30988392|PMID:30996762|PMID:31114860|PMID:31137166|PMID:31320904|PMID:31337358|PMID:31358886|PMID:31448785|PMID:31493592|PMID:31522018|PMID:31535183|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31618753|PMID:31628797|PMID:31696929|PMID:31737537|PMID:31844156|PMID:31882846|PMID:32009526|PMID:32038248|PMID:32048431|PMID:32145446|PMID:32191791|PMID:32233023|PMID:32238909|PMID:32253972|PMID:32311972|PMID:32383558|PMID:32475984|PMID:32508047|PMID:32659924|PMID:32893267|PMID:32940533|PMID:33198487|PMID:33258288|PMID:33517668|PMID:33764691|PMID:34002542|PMID:34135346|PMID:34309407|PMID:34319147|PMID:34426522|PMID:34502138|PMID:34546463|PMID:34712263|PMID:34716268|PMID:34841674|PMID:35688147|PMID:36197721|PMID:36203036|PMID:5417810|PMID:7889573|PMID:8635257|PMID:8700910|PMID:8799887|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:732101 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:10753933|PMID:20301308|PMID:21777565|PMID:25741868|PMID:28280240|PMID:28492532|PMID:31696929|PMID:32233023|PMID:32383558 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:630 genetic disease ISO RGD:732101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10220144|PMID:10753933|PMID:10973849|PMID:11170080|PMID:11222472|PMID:11854117|PMID:12354768|PMID:12566525|PMID:14714110|PMID:14998624|PMID:15120823|PMID:15280442|PMID:15840476|PMID:16253912|PMID:16379539|PMID:16432067|PMID:17088455|PMID:17171344|PMID:17560885|PMID:18386051|PMID:18441445|PMID:18593567|PMID:18808722|PMID:19324319|PMID:19716085|PMID:19841300|PMID:19843919|PMID:19862833|PMID:20197117|PMID:20975234|PMID:21185501|PMID:21367833|PMID:22402334|PMID:22515331|PMID:22581653|PMID:22821100|PMID:22949429|PMID:23158531|PMID:23303164|PMID:23470493|PMID:24606995|PMID:24623279|PMID:25417810|PMID:25741868|PMID:26669661|PMID:27251404|PMID:28492532|PMID:28855170|PMID:30276209|PMID:7889573|PMID:8877771 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:767 muscular atrophy ISO RGD:732101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16723379 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9000059 Long QT Syndrome 2/5 ISO RGD:732101 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2/5, digenic PMID:10973849|PMID:11854117|PMID:15051636|PMID:22581653|PMID:25417810|PMID:25741868 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:732101 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:10187793|PMID:10220144|PMID:10483966|PMID:10753933|PMID:10807545|PMID:10862094|PMID:10973849|PMID:11009462|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668641|PMID:11741928|PMID:11854117|PMID:11997281|PMID:12175777|PMID:12402336|PMID:12621127|PMID:12775564|PMID:12808265|PMID:12829173|PMID:14661677|PMID:14760488|PMID:14975928|PMID:15051636|PMID:15090700|PMID:15176425|PMID:15522280|PMID:15572050|PMID:15599693|PMID:15635208|PMID:15746444|PMID:15840476|PMID:15851119|PMID:15913580|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16166152|PMID:16244680|PMID:16253915|PMID:16414944|PMID:16432067|PMID:16487223|PMID:16720674|PMID:16831322|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17161064|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17531263|PMID:17576681|PMID:17576861|PMID:17597962|PMID:18060054|PMID:18222468|PMID:18222980|PMID:18426444|PMID:18441445|PMID:18596570|PMID:18675227|PMID:18752142|PMID:18776039|PMID:18808722|PMID:19019189|PMID:19038855|PMID:19184172|PMID:19305409|PMID:19322600|PMID:19490267|PMID:19490382|PMID:19673885|PMID:19695459|PMID:19716085|PMID:19804510|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:20167303|PMID:20181576|PMID:20301308|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20674198|PMID:20850565|PMID:20876384|PMID:21063070|PMID:21109023|PMID:21185501|PMID:21215473|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21536673|PMID:21777565|PMID:21779290|PMID:21911102|PMID:22245016|PMID:22359612|PMID:22378279|PMID:22396785|PMID:22402074|PMID:22402334|PMID:22429796|PMID:22581653|PMID:22584458|PMID:22653970|PMID:22677073|PMID:22727609|PMID:22764740|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23304551|PMID:23338923|PMID:23347029|PMID:23465283|PMID:23631430|PMID:23861362|PMID:23890619|PMID:23935525|PMID:23936059|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24217263|PMID:24223155|PMID:24334129|PMID:24363352|PMID:24388587|PMID:24530480|PMID:24596401|PMID:24606995|PMID:24631775|PMID:24667783|PMID:25028483|PMID:25119684|PMID:25294783|PMID:25351510|PMID:25417810|PMID:25447171|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25925977|PMID:25929701|PMID:25947924|PMID:25967940|PMID:26063740|PMID:26066609|PMID:26129877|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26467025|PMID:26669661|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27026747|PMID:27041096|PMID:27153395|PMID:27231019|PMID:27711072|PMID:27816319|PMID:27920829|PMID:27930701|PMID:28049825|PMID:28280240|PMID:28302345|PMID:28349240|PMID:28360401|PMID:28431243|PMID:28449774|PMID:28472724|PMID:28492532|PMID:28549997|PMID:28566242|PMID:28589536|PMID:28606196|PMID:2870438|PMID:28704380|PMID:28794082|PMID:28798025|PMID:28861002|PMID:28912206|PMID:28988457|PMID:29192238|PMID:29247119|PMID:29255176|PMID:29331839|PMID:29431731|PMID:29544605|PMID:29555771|PMID:29622001|PMID:29650123|PMID:29672598|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29884292|PMID:29925740|PMID:29957233|PMID:30086531|PMID:30244407|PMID:30246897|PMID:30276209|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30403391|PMID:30530868|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31114860|PMID:31337358|PMID:31358886|PMID:31448785|PMID:31493592|PMID:31522018|PMID:31557540|PMID:31589614|PMID:31618753|PMID:31696929|PMID:31737537|PMID:32009526|PMID:32048431|PMID:32145446|PMID:32233023|PMID:32383558|PMID:32475984|PMID:32508047|PMID:32893267|PMID:33258288|PMID:33764691|PMID:34002542|PMID:34135346|PMID:34319147|PMID:34426522|PMID:34502138|PMID:34712263|PMID:35688147|PMID:36197721|PMID:36203036|PMID:9536098|PMID:9927399 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9001790 Long QT Syndrome 1/2 ISO RGD:732101 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1/2, digenic PMID:10086971|PMID:10973849|PMID:16922724|PMID:19862833|PMID:20181576|PMID:21419236|PMID:22581653|PMID:25741868|PMID:27000522|PMID:28492532|PMID:32383558 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:17088455|PMID:19322600|PMID:19841300|PMID:21410720|PMID:22581653|PMID:22677073|PMID:23465283|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24334129|PMID:25637381|PMID:25741868|PMID:26159999|PMID:28492532 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9002081 Long QT Syndrome 2/3 ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2/3, digenic PMID:16922724|PMID:22581653|PMID:25417810 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:732101 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:11997281|PMID:14661677|PMID:14760488|PMID:15840476|PMID:16043162|PMID:16487223|PMID:19841300|PMID:22581653|PMID:22584458|PMID:22949429|PMID:23861362|PMID:24223155|PMID:25417810|PMID:25741868|PMID:27711072|PMID:28492532|PMID:30662450|PMID:34135346 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:732101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16086867 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9003163 Heart Block ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:17088455|PMID:19322600|PMID:19841300|PMID:21410720|PMID:22581653|PMID:22677073|PMID:23465283|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24334129|PMID:25637381|PMID:25741868|PMID:26159999|PMID:28492532 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10086971|PMID:10220144|PMID:10226095|PMID:10483966|PMID:10753933|PMID:10841244|PMID:10862094|PMID:10973849|PMID:11009462|PMID:11113008|PMID:11222472|PMID:11278781|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11741928|PMID:11854117|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12477631|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12775586|PMID:12837749|PMID:12877697|PMID:14661677|PMID:14720170|PMID:14998624|PMID:15051636|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15280442|PMID:15466642|PMID:15840476|PMID:15851119|PMID:15851652|PMID:16155735|PMID:16253912|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17222736|PMID:17224687|PMID:17445409|PMID:17569659|PMID:17905336|PMID:18004376|PMID:18441445|PMID:18468596|PMID:18593567|PMID:18752142|PMID:18808722|PMID:19038855|PMID:19160088|PMID:19169982|PMID:19306396|PMID:19352046|PMID:19490267|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19841300|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20197117|PMID:20348026|PMID:20541041|PMID:20659946|PMID:20960620|PMID:21063070|PMID:21185501|PMID:21244686|PMID:21350584|PMID:21367833|PMID:21440677|PMID:21490315|PMID:21573751|PMID:21737021|PMID:22245016|PMID:22402334|PMID:22581653|PMID:22727609|PMID:22949429|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23316740|PMID:23338923|PMID:23470493|PMID:23555008|PMID:23631430|PMID:23861362|PMID:23936059|PMID:24021552|PMID:24033266|PMID:24217263|PMID:24363352|PMID:24606995|PMID:24623279|PMID:24973560|PMID:25158096|PMID:25254353|PMID:25348405|PMID:25417810|PMID:25576780|PMID:25637381|PMID:25741868|PMID:25925977|PMID:25967940|PMID:26063740|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26496715|PMID:26669661|PMID:26704558|PMID:26746457|PMID:26847485|PMID:26958806|PMID:27000522|PMID:27041096|PMID:27231019|PMID:27251404|PMID:27803431|PMID:27871843|PMID:28082916|PMID:28349240|PMID:28431243|PMID:28492532|PMID:28532774|PMID:28794082|PMID:28855170|PMID:28988457|PMID:29247119|PMID:29431731|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29752375|PMID:29884292|PMID:30246897|PMID:30291343|PMID:30369311|PMID:30704477|PMID:30847666|PMID:31358886|PMID:31557540|PMID:32048431|PMID:32475984|PMID:7889573|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9544837|PMID:9694858|PMID:9927399 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:732101 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10226095|PMID:10483966|PMID:10753933|PMID:10841244|PMID:10862094|PMID:10973849|PMID:11009462|PMID:11113008|PMID:11222472|PMID:11278781|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11741928|PMID:11854117|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12477631|PMID:12566525|PMID:12690509|PMID:12775586|PMID:12837749|PMID:12877697|PMID:14661677|PMID:14720170|PMID:14998624|PMID:15051636|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15280442|PMID:15466642|PMID:15670565|PMID:15840476|PMID:15851119|PMID:15851652|PMID:16155735|PMID:16253912|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17222736|PMID:17224687|PMID:17445409|PMID:17569659|PMID:17905336|PMID:18004376|PMID:18441445|PMID:18468596|PMID:18593567|PMID:18752142|PMID:18808722|PMID:19038855|PMID:19160088|PMID:19169982|PMID:19306396|PMID:19352046|PMID:19419905|PMID:19490267|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19841300|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20197117|PMID:20348026|PMID:20541041|PMID:20659946|PMID:20960620|PMID:21063070|PMID:21185501|PMID:21244686|PMID:21350584|PMID:21367833|PMID:21440677|PMID:21490315|PMID:21536673|PMID:21573751|PMID:21737021|PMID:22245016|PMID:22396785|PMID:22402334|PMID:22573844|PMID:22581653|PMID:22727609|PMID:22949429|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23316740|PMID:23338923|PMID:23470493|PMID:23555008|PMID:23631430|PMID:23861362|PMID:23936059|PMID:24021552|PMID:24033266|PMID:24217263|PMID:24363352|PMID:24606995|PMID:24623279|PMID:24973560|PMID:25158096|PMID:25254353|PMID:25417810|PMID:25576780|PMID:25637381|PMID:25741868|PMID:25925977|PMID:25967940|PMID:26063740|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26496715|PMID:26669661|PMID:26704558|PMID:26743238|PMID:26746457|PMID:26847485|PMID:26958806|PMID:27000522|PMID:27041096|PMID:27231019|PMID:27251404|PMID:27803431|PMID:27871843|PMID:28082916|PMID:28349240|PMID:28431243|PMID:28492532|PMID:28532774|PMID:28794082|PMID:28855170|PMID:28988457|PMID:29247119|PMID:29431731|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29752375|PMID:29884292|PMID:30246897|PMID:30291343|PMID:30369311|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31358886|PMID:31557540|PMID:31737537|PMID:32048431|PMID:32475984|PMID:34502138|PMID:7889573|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9544837|PMID:9694858|PMID:9927399 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:732101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10226095|PMID:10483966|PMID:10560244|PMID:10690305|PMID:10753933|PMID:10841244|PMID:10862094|PMID:10973849|PMID:10987356|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11741928|PMID:11854117|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12477631|PMID:12566525|PMID:12690509|PMID:12741719|PMID:12775586|PMID:12837749|PMID:12877697|PMID:14661677|PMID:14720170|PMID:14998624|PMID:15051636|PMID:15090700|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15242738|PMID:15280442|PMID:15466642|PMID:15500450|PMID:15545400|PMID:15635208|PMID:15840476|PMID:15851119|PMID:15851652|PMID:16155735|PMID:16244680|PMID:16253912|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17171344|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17445409|PMID:17569659|PMID:17905336|PMID:18004376|PMID:18093521|PMID:18222468|PMID:18386051|PMID:18441445|PMID:18464931|PMID:18468596|PMID:18508782|PMID:18593567|PMID:18752142|PMID:18791070|PMID:18808722|PMID:19038855|PMID:19057127|PMID:19070294|PMID:19160088|PMID:19169982|PMID:19306396|PMID:19352046|PMID:19490267|PMID:19694797|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20197117|PMID:20301308|PMID:20348026|PMID:20541041|PMID:20544339|PMID:20659946|PMID:20670193|PMID:20833965|PMID:20850565|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21185501|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21308345|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21440677|PMID:21490315|PMID:21499742|PMID:21536673|PMID:21573751|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22245016|PMID:22378279|PMID:22396785|PMID:22402334|PMID:22581653|PMID:22653970|PMID:22727609|PMID:22821100|PMID:22876326|PMID:22885918|PMID:22927196|PMID:22949429|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23316740|PMID:23338923|PMID:23465283|PMID:23470493|PMID:23546015|PMID:23555008|PMID:23631430|PMID:23861362|PMID:23936059|PMID:23975098|PMID:23995044|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24217263|PMID:24363352|PMID:24606995|PMID:24623279|PMID:24973560|PMID:25119684|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25417810|PMID:25576780|PMID:25608792|PMID:25637381|PMID:25741868|PMID:25819988|PMID:25925977|PMID:25967940|PMID:26063740|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26743238|PMID:26746457|PMID:26847485|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27041096|PMID:27059892|PMID:27064559|PMID:27231019|PMID:27251404|PMID:27261823|PMID:27492745|PMID:27555138|PMID:27803431|PMID:27871843|PMID:27920829|PMID:28082916|PMID:28292826|PMID:28349240|PMID:28431243|PMID:28492532|PMID:28532774|PMID:28566242|PMID:28794082|PMID:28798025|PMID:28855170|PMID:28861002|PMID:28988457|PMID:29247119|PMID:29330128|PMID:29331839|PMID:29431731|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29752375|PMID:29884292|PMID:29957233|PMID:30012873|PMID:30123799|PMID:30246897|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30704477|PMID:30847666|PMID:31358886|PMID:31493592|PMID:31557540|PMID:31628797|PMID:31737537|PMID:31844156|PMID:32038248|PMID:32048431|PMID:32311972|PMID:32383558|PMID:32475984|PMID:32893267|PMID:32940533|PMID:33198487|PMID:34002542|PMID:34502138|PMID:7889573|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:732101 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10226095|PMID:10483966|PMID:10560244|PMID:10690305|PMID:10753933|PMID:10841244|PMID:10862094|PMID:10973849|PMID:10987356|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11741928|PMID:11854117|PMID:11997281|PMID:12062363|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12477631|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12741719|PMID:12775586|PMID:12837749|PMID:12877697|PMID:14661677|PMID:14720170|PMID:14760488|PMID:14998624|PMID:15043509|PMID:15051636|PMID:15090700|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15242738|PMID:15280442|PMID:15466642|PMID:15500450|PMID:15545400|PMID:15635208|PMID:15840476|PMID:15851119|PMID:15851652|PMID:16155735|PMID:16244680|PMID:16253912|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17171344|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17445409|PMID:17569659|PMID:17823114|PMID:17905336|PMID:18004376|PMID:18093521|PMID:18222468|PMID:18386051|PMID:18441445|PMID:18464931|PMID:18468596|PMID:18508782|PMID:18593567|PMID:18675227|PMID:18752142|PMID:18791070|PMID:18808722|PMID:18955593|PMID:19038855|PMID:19057127|PMID:19070294|PMID:19160088|PMID:19169982|PMID:19306396|PMID:19352046|PMID:19371231|PMID:19490267|PMID:19694797|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20197117|PMID:20301308|PMID:20348026|PMID:20541041|PMID:20544339|PMID:20659946|PMID:20670193|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20950623|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21109023|PMID:21185501|PMID:21216356|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21308345|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21440677|PMID:21490315|PMID:21499742|PMID:21536673|PMID:21573751|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22245016|PMID:22378279|PMID:22396785|PMID:22402334|PMID:22581653|PMID:22584458|PMID:22653970|PMID:22727609|PMID:22821100|PMID:22876326|PMID:22885918|PMID:22927196|PMID:22949429|PMID:23022675|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23316740|PMID:23338923|PMID:23465283|PMID:23470493|PMID:23546015|PMID:23555008|PMID:23631430|PMID:23861362|PMID:23936059|PMID:23975098|PMID:23995044|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24217263|PMID:24223155|PMID:24363352|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24973560|PMID:25119684|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25417810|PMID:25576780|PMID:25608792|PMID:25637381|PMID:25741868|PMID:25819988|PMID:25925977|PMID:25967940|PMID:26063740|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26847485|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27041096|PMID:27059892|PMID:27064559|PMID:27231019|PMID:27251404|PMID:27261823|PMID:27492745|PMID:27555138|PMID:27803431|PMID:27871843|PMID:27920829|PMID:28082916|PMID:28292826|PMID:28349240|PMID:28431243|PMID:28449774|PMID:28492532|PMID:28532774|PMID:28566242|PMID:28794082|PMID:28798025|PMID:28855170|PMID:28861002|PMID:28988457|PMID:29247119|PMID:29330128|PMID:29331839|PMID:29431731|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29752375|PMID:29766885|PMID:29884292|PMID:29957233|PMID:30012873|PMID:30123799|PMID:30246897|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31358886|PMID:31493592|PMID:31557540|PMID:31628797|PMID:31737537|PMID:31844156|PMID:32038248|PMID:32048431|PMID:32311972|PMID:32383558|PMID:32475984|PMID:32893267|PMID:32940533|PMID:33198487|PMID:33258288|PMID:34002542|PMID:34135346|PMID:34426522|PMID:34502138|PMID:34712263|PMID:36203036 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:732101 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:7889573|PMID:8700910|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9005444 Torsades de Pointes ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Torsades de pointes PMID:11468227|PMID:12775564|PMID:14661677|PMID:14975928|PMID:15522280|PMID:16487223|PMID:17161064|PMID:17210839|PMID:17275752|PMID:19019189|PMID:19673885|PMID:19841300|PMID:20167303|PMID:22581653|PMID:23303164|PMID:23861362|PMID:24596401|PMID:25741868|PMID:26467025|PMID:26746457|PMID:27153395|PMID:28472724|PMID:28492532|PMID:29752375|PMID:29759541 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9005764 Short QT Syndrome 1 ISO RGD:732101 D RGD:7240710 20180130 OMIM 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9005764 Short QT Syndrome 1 ISO RGD:732101 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 1 PMID:10187793|PMID:10220144|PMID:10483966|PMID:10753933|PMID:10807545|PMID:10862094|PMID:10973849|PMID:11173780|PMID:11222472|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11854117|PMID:11997281|PMID:12402336|PMID:12566525|PMID:12808265|PMID:12829173|PMID:12925462|PMID:14661677|PMID:14676148|PMID:14720170|PMID:14760488|PMID:14998624|PMID:15051636|PMID:15176425|PMID:15466642|PMID:15599693|PMID:15670565|PMID:15828882|PMID:15840476|PMID:15913580|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16244680|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16487223|PMID:16754261|PMID:16818214|PMID:16922724|PMID:17161064|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17576681|PMID:17905336|PMID:18060054|PMID:18222468|PMID:18222980|PMID:18441445|PMID:18675227|PMID:18690032|PMID:18752142|PMID:18776039|PMID:18808722|PMID:19088443|PMID:19160088|PMID:19419905|PMID:19439805|PMID:19490267|PMID:19501051|PMID:19673885|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19804510|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:20301308|PMID:20541041|PMID:20659946|PMID:20850565|PMID:20851114|PMID:21350584|PMID:21536673|PMID:21777565|PMID:21911102|PMID:21956039|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22194679|PMID:22378279|PMID:22396785|PMID:22402334|PMID:22429796|PMID:22573844|PMID:22581653|PMID:22677073|PMID:22764740|PMID:22882672|PMID:2294929|PMID:22949429|PMID:23098067|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23338923|PMID:23465283|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24388587|PMID:24606995|PMID:24631775|PMID:24973560|PMID:25140878|PMID:25348405|PMID:25417810|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25925977|PMID:25947924|PMID:25967940|PMID:26063740|PMID:26066609|PMID:26105569|PMID:26164358|PMID:26187847|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26704558|PMID:26743238|PMID:26746457|PMID:26958806|PMID:27000522|PMID:27041096|PMID:27650965|PMID:27711072|PMID:27816319|PMID:27920829|PMID:28003625|PMID:28255936|PMID:28280240|PMID:28431243|PMID:28449774|PMID:28492532|PMID:28566242|PMID:28589536|PMID:28606196|PMID:2870438|PMID:28704380|PMID:28807990|PMID:28861002|PMID:28988457|PMID:29016939|PMID:29192238|PMID:29247119|PMID:29255176|PMID:29331839|PMID:29544605|PMID:29622001|PMID:29672598|PMID:29727688|PMID:29752375|PMID:29766885|PMID:29884292|PMID:29925740|PMID:30086531|PMID:30246897|PMID:30327538|PMID:30369311|PMID:30530868|PMID:30615648|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31114860|PMID:31337358|PMID:31358886|PMID:31493592|PMID:31539150|PMID:31557540|PMID:31618753|PMID:31696929|PMID:31737537|PMID:32048431|PMID:32233023|PMID:32383558|PMID:32475984|PMID:32508047|PMID:32659924|PMID:32893267|PMID:33517668|PMID:33764691|PMID:34002542|PMID:34309407|PMID:34426522|PMID:34502138|PMID:34712263|PMID:34841674|PMID:35688147|PMID:9536098|PMID:9544837 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9007 sudden infant death syndrome ISO RGD:732101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:15913580|PMID:17210839|PMID:18222468|PMID:18596570|PMID:18675227|PMID:20674198|PMID:21215473|PMID:22581653|PMID:22995991|PMID:23304551|PMID:24223155|PMID:25417810|PMID:25741868|PMID:26129877|PMID:26332594|PMID:27026747|PMID:27930701|PMID:28492532|PMID:29752375|PMID:30369311 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24830940 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9007820 Sudden Death ISO RGD:732101 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:11468227|PMID:12775564|PMID:14661677|PMID:14975928|PMID:15522280|PMID:15840476|PMID:16487223|PMID:17161064|PMID:17210839|PMID:17275752|PMID:19019189|PMID:19673885|PMID:19841300|PMID:20167303|PMID:22581653|PMID:23303164|PMID:23861362|PMID:24596401|PMID:25741868|PMID:26467025|PMID:26746457|PMID:27153395|PMID:28472724|PMID:28492532|PMID:29752375|PMID:29759541 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9007925 Sudden Cardiac Death ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death PMID:18508782|PMID:19716085|PMID:22581653|PMID:25417810|PMID:25741868|PMID:26704558|PMID:28492532|PMID:29725305|PMID:32475984 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:732101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:25741868|PMID:28492532 11928866 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9970 obesity ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:10753933|PMID:10973849|PMID:11113008|PMID:11468227|PMID:11668638|PMID:11854117|PMID:12354768|PMID:15051636|PMID:15840476|PMID:16432067|PMID:17160940|PMID:17445409|PMID:18441445|PMID:18593567|PMID:19716085|PMID:19841300|PMID:22581653|PMID:22949429|PMID:23303164|PMID:24606995|PMID:24623279|PMID:25741868|PMID:26847485|PMID:28492532|PMID:29672598|PMID:30246897|PMID:7889573|PMID:9024139|PMID:9927399 11928885 TRABD TraB domain containing gene DOID:0060041 autism spectrum disorder ISO RGD:1601961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 11928885 TRABD TraB domain containing gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1601961 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 11928885 TRABD TraB domain containing gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1601961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11928885 TRABD TraB domain containing gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1601961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 11928885 TRABD TraB domain containing gene DOID:10581 metachromatic leukodystrophy ISO RGD:1601961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 11928885 TRABD TraB domain containing gene DOID:1059 intellectual disability ISO RGD:1601961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11928885 TRABD TraB domain containing gene DOID:630 genetic disease ISO RGD:1601961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928898 NOBOX NOBOX oogenesis homeobox gene DOID:0080857 primary ovarian insufficiency 1 ISO RGD:1604996 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 1 PMID:21837770|PMID:24103315|PMID:25514101|PMID:25741868|PMID:25960166|PMID:26848058|PMID:28492532 11928898 NOBOX NOBOX oogenesis homeobox gene DOID:0080862 primary ovarian insufficiency 5 ISO RGD:1604996 D RGD:7240710 20180130 OMIM 11928898 NOBOX NOBOX oogenesis homeobox gene DOID:0080862 primary ovarian insufficiency 5 ISO RGD:1604996 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 5 PMID:17701902|PMID:18930203|PMID:21837770|PMID:24103315|PMID:25514101|PMID:25741868|PMID:25960166|PMID:26848058|PMID:28492532|PMID:31042289|PMID:33116287 11928898 NOBOX NOBOX oogenesis homeobox gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1604996 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:17701902 11928898 NOBOX NOBOX oogenesis homeobox gene DOID:5426 primary ovarian insufficiency ISO RGD:1604996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11928898 NOBOX NOBOX oogenesis homeobox gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1604996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:17701902 11928898 NOBOX NOBOX oogenesis homeobox gene DOID:630 genetic disease ISO RGD:1604996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11928898 NOBOX NOBOX oogenesis homeobox gene DOID:9003549 Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) ISO RGD:1604996 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) PMID:22152682|PMID:25458521|PMID:28492532 11928898 NOBOX NOBOX oogenesis homeobox gene DOID:9008952 Breast Cancer, Familial ISO RGD:1604996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 11928916 ATXN7L3B ataxin 7 like 3B gene DOID:630 genetic disease ISO RGD:2816966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928927 ZNF275 zinc finger protein 275 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11928927 ZNF275 zinc finger protein 275 gene DOID:12849 autistic disorder ISO RGD:1347058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11928939 LOC100981428 acid-sensing ion channel 2 gene DOID:10283 prostate cancer ISO RGD:737359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11928939 LOC100981428 acid-sensing ion channel 2 gene DOID:12849 autistic disorder ISO RGD:737359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17376794 11928939 LOC100981428 acid-sensing ion channel 2 gene DOID:630 genetic disease ISO RGD:737359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928939 LOC100981428 acid-sensing ion channel 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11928939 LOC100981428 acid-sensing ion channel 2 gene DOID:9005372 Inflammation ISO RGD:737359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11588175 11928956 CORO2A coronin 2A gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1320210 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 11928956 CORO2A coronin 2A gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1320210 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 11928956 CORO2A coronin 2A gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1320210 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 11928956 CORO2A coronin 2A gene DOID:1059 intellectual disability ISO RGD:1320210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11928956 CORO2A coronin 2A gene DOID:12712 nephronophthisis ISO RGD:1320210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 11928956 CORO2A coronin 2A gene DOID:14004 thoracic aortic aneurysm ISO RGD:1320210 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 11928956 CORO2A coronin 2A gene DOID:2661 myoepithelioma ISO RGD:1320210 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11928956 CORO2A coronin 2A gene DOID:630 genetic disease ISO RGD:1320210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928956 CORO2A coronin 2A gene DOID:9001793 Generalized Epilepsy ISO RGD:1320210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 11928978 DEDD death effector domain containing gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:731723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11928978 DEDD death effector domain containing gene DOID:1540 parathyroid carcinoma ISO RGD:731723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11928978 DEDD death effector domain containing gene DOID:630 genetic disease ISO RGD:731723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11928978 DEDD death effector domain containing gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11929003 PTPRG protein tyrosine phosphatase receptor type G gene DOID:630 genetic disease ISO RGD:735532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11929003 PTPRG protein tyrosine phosphatase receptor type G gene DOID:9000217 Stomach Neoplasms ISO RGD:735532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963294 11929042 CARD19 caspase recruitment domain family member 19 gene DOID:630 genetic disease ISO RGD:1314456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11929058 MAP4K1 mitogen-activated protein kinase kinase kinase kinase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:1305463 D RGD:9068941 20200609 RGD PMID:18382279|PMID:18498770|REF_RGD_ID:7495845|REF_RGD_ID:7495847 11929058 MAP4K1 mitogen-activated protein kinase kinase kinase kinase 1 gene DOID:630 genetic disease ISO RGD:1313504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11929106 LEP leptin gene DOID:0050741 alcohol dependence ISO RGD:69123 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:29912265|REF_RGD_ID:21201248 11929106 LEP leptin gene DOID:0050848 obstructive sleep apnea ISO RGD:69123 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18606530|REF_RGD_ID:5128817 11929106 LEP leptin gene DOID:0060318 acute promyelocytic leukemia ISO RGD:69123 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 11929106 LEP leptin gene DOID:0060611 abdominal obesity-metabolic syndrome ISO RGD:69124 D RGD:9068941 20220825 MouseDO 11929106 LEP leptin gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:3000 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;proteinLincreased expression:serum (human) PMID:20476641|REF_RGD_ID:25330346 11929106 LEP leptin gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:3000 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus;protein:increased expression:serum (human) PMID:30052309|REF_RGD_ID:25330349 11929106 LEP leptin gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24211274 11929106 LEP leptin gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69123 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;proteinLincreased expression:serum (human) PMID:20476641|REF_RGD_ID:25330346 11929106 LEP leptin gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69123 D RGD:9068941 20200609 RGD associated with Type 2 Diabetes Mellitus;protein:increased expression:plasma PMID:18713300|REF_RGD_ID:2311137 11929106 LEP leptin gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69123 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus;protein:increased expression:serum (human) PMID:30052309|REF_RGD_ID:25330349 11929106 LEP leptin gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69124 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;proteinLincreased expression:serum (human) PMID:20476641|REF_RGD_ID:25330346 11929106 LEP leptin gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69124 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus;protein:increased expression:serum (human) PMID:30052309|REF_RGD_ID:25330349 11929106 LEP leptin gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69124 D RGD:9068941 20220825 MouseDO OMIM:613282 | OMIM:613387 11929106 LEP leptin gene DOID:0111334 congenital leptin deficiency ISO RGD:69123 D RGD:7240710 20180130 OMIM 11929106 LEP leptin gene DOID:0111334 congenital leptin deficiency ISO RGD:69123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leptin dysfunction | ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency PMID:12393845|PMID:15070752|PMID:15472169|PMID:15937081|PMID:20140086|PMID:25551525|PMID:25741868|PMID:28209183|PMID:28377240|PMID:28492532|PMID:9202122|PMID:9500540|PMID:9745435 11929106 LEP leptin gene DOID:10591 pre-eclampsia ISO RGD:3000 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16021089|REF_RGD_ID:5128718 11929106 LEP leptin gene DOID:10603 glucose intolerance ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:22948215|REF_RGD_ID:12904911 11929106 LEP leptin gene DOID:10603 glucose intolerance ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21315688|PMID:24150608 11929106 LEP leptin gene DOID:10605 short bowel syndrome ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:19730157|REF_RGD_ID:5128624 11929106 LEP leptin gene DOID:10652 Alzheimer's disease ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20157255 11929106 LEP leptin gene DOID:10652 Alzheimer's disease ISO RGD:69123 D RGD:9068941 20200609 RGD compared to cortisol;protein:altered expression:plasma (human) PMID:9755363|REF_RGD_ID:10053632 11929106 LEP leptin gene DOID:10652 Alzheimer's disease treatment ISO RGD:3000 D RGD:9068941 20200609 RGD associated with Obesity PMID:25296496|REF_RGD_ID:10053617 11929106 LEP leptin gene DOID:10763 hypertension ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:20059648|REF_RGD_ID:5128597 11929106 LEP leptin gene DOID:10763 hypertension ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12050272|PMID:16827954|PMID:25205467|PMID:27226618 11929106 LEP leptin gene DOID:10763 hypertension ISO RGD:69123 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:19204185|REF_RGD_ID:5128788 11929106 LEP leptin gene DOID:10808 gastric ulcer ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10422768|PMID:11025360|PMID:11787760|PMID:15024038|PMID:16015682|PMID:18181030 11929106 LEP leptin gene DOID:11394 adult respiratory distress syndrome disease_progression ISO RGD:69123 D RGD:9068941 20200609 RGD respiratory system fluid/secretion PMID:21317313|REF_RGD_ID:5128773 11929106 LEP leptin gene DOID:11476 osteoporosis ISO RGD:3000 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:24250662|REF_RGD_ID:10053572 11929106 LEP leptin gene DOID:11476 osteoporosis ISO RGD:69123 D RGD:9068941 20200609 RGD associated with chronic obstructive pulmonary disease; protein:decreased expression:serum PMID:21376149|REF_RGD_ID:5128771 11929106 LEP leptin gene DOID:11476 osteoporosis treatment ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:12609558|REF_RGD_ID:10053615 11929106 LEP leptin gene DOID:11476 osteoporosis treatment ISO RGD:69123 D RGD:9068941 20200609 RGD human protein in a rat model PMID:11459801|REF_RGD_ID:10053630 11929106 LEP leptin gene DOID:11612 polycystic ovary syndrome ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22381227 11929106 LEP leptin gene DOID:1168 familial hyperlipidemia ISO RGD:3000 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver, adipose tissue (rat) PMID:17671736|REF_RGD_ID:10053616 11929106 LEP leptin gene DOID:11714 gestational diabetes ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20421132 11929106 LEP leptin gene DOID:11714 gestational diabetes ISO RGD:69123 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19269197|REF_RGD_ID:2311131 11929106 LEP leptin gene DOID:11981 morbid obesity ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15070752|PMID:9500540 11929106 LEP leptin gene DOID:12236 primary biliary cholangitis ISO RGD:69123 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:16093869|REF_RGD_ID:10411894 11929106 LEP leptin gene DOID:12849 autistic disorder ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17347881 11929106 LEP leptin gene DOID:12858 Huntington's disease ISO RGD:3000 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19573560|REF_RGD_ID:5128676 11929106 LEP leptin gene DOID:14018 alcoholic liver cirrhosis ISO RGD:3000 D RGD:9068941 20200609 RGD DNA:hypomethylation:promoter (human) PMID:29912265|REF_RGD_ID:21201248 11929106 LEP leptin gene DOID:14018 alcoholic liver cirrhosis ISO RGD:69123 D RGD:9068941 20200609 RGD DNA:hypomethylation:promoter (human) PMID:29912265|REF_RGD_ID:21201248 11929106 LEP leptin gene DOID:14018 alcoholic liver cirrhosis ISO RGD:69124 D RGD:9068941 20200609 RGD DNA:hypomethylation:promoter (human) PMID:29912265|REF_RGD_ID:21201248 11929106 LEP leptin gene DOID:14221 abdominal obesity-metabolic syndrome 1 ISO RGD:69124 D RGD:9068941 20220825 MouseDO OMIM:605552 11929106 LEP leptin gene DOID:14330 Parkinson's disease treatment ISO RGD:3000 D RGD:9068941 20200609 RGD rat protein in a mouse model PMID:17895242|REF_RGD_ID:10053631 11929106 LEP leptin gene DOID:1485 cystic fibrosis severity ISO RGD:69123 D RGD:9068941 20200609 RGD PMID:18353734|REF_RGD_ID:5128819 11929106 LEP leptin gene DOID:1612 breast cancer ISO RGD:69123 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16019138|REF_RGD_ID:8694425 11929106 LEP leptin gene DOID:1924 hypogonadism ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15070752|PMID:9500540 11929106 LEP leptin gene DOID:1924 hypogonadism treatment ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:21790658|REF_RGD_ID:10053622 11929106 LEP leptin gene DOID:2018 hyperinsulinism ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:22948215|REF_RGD_ID:12904911 11929106 LEP leptin gene DOID:2018 hyperinsulinism ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9826672 11929106 LEP leptin gene DOID:2048 autoimmune hepatitis ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 11929106 LEP leptin gene DOID:2841 asthma ISO RGD:69123 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19705789|REF_RGD_ID:5128781 11929106 LEP leptin gene DOID:2913 acute pancreatitis ISO RGD:3000 D RGD:9068941 20200609 RGD associated with fatty liver disease; protein:increased expression:serum: PMID:26634430|REF_RGD_ID:11552763 11929106 LEP leptin gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69123 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:20021311|REF_RGD_ID:5128778 11929106 LEP leptin gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69123 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21367591|REF_RGD_ID:5128772 11929106 LEP leptin gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:69123 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: -2548 G>A (human) PMID:20854423|REF_RGD_ID:5128777 11929106 LEP leptin gene DOID:3146 lipid metabolism disorder ISO RGD:3000 D RGD:9068941 20210924 RGD protein:increased expression:adipose tissue (rat) PMID:30550969|REF_RGD_ID:25330351 11929106 LEP leptin gene DOID:3908 lung non-small cell carcinoma ISO RGD:69123 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19033693|REF_RGD_ID:5128815 11929106 LEP leptin gene DOID:4195 hyperglycemia ISO RGD:69123 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:19716478|PMID:21561152|PMID:31313498|PMID:31483951 11929106 LEP leptin gene DOID:4450 renal cell carcinoma resistance ISO RGD:69123 D RGD:9068941 20200609 RGD PMID:19278051|REF_RGD_ID:6907119 11929106 LEP leptin gene DOID:4483 rhinitis ISO RGD:69123 D RGD:9068941 20200609 RGD PMID:19860581|REF_RGD_ID:5128850 11929106 LEP leptin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11929106 LEP leptin gene DOID:5016 hepatocellular clear cell carcinoma ISO RGD:69123 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:20723213|REF_RGD_ID:14696785 11929106 LEP leptin gene DOID:576 proteinuria ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25205467 11929106 LEP leptin gene DOID:6000 congestive heart failure ISO RGD:69124 D RGD:9068941 20200609 RGD PMID:18006469|REF_RGD_ID:5128823 11929106 LEP leptin gene DOID:630 genetic disease ISO RGD:69123 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11929106 LEP leptin gene DOID:684 hepatocellular carcinoma severity ISO RGD:3000 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:18573568|REF_RGD_ID:25330348 11929106 LEP leptin gene DOID:684 hepatocellular carcinoma severity ISO RGD:69123 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:18573568|REF_RGD_ID:25330348 11929106 LEP leptin gene DOID:684 hepatocellular carcinoma severity ISO RGD:69124 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:18573568|REF_RGD_ID:25330348 11929106 LEP leptin gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:3000 D RGD:9068941 20200609 RGD DNA:SNP:enhancer:-2548G>A (rs7799039) (human) PMID:28452232|REF_RGD_ID:15039399 11929106 LEP leptin gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69123 D RGD:9068941 20200609 RGD DNA:SNP:enhancer:-2548G>A (rs7799039) (human) PMID:28452232|REF_RGD_ID:15039399 11929106 LEP leptin gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69124 D RGD:9068941 20200609 RGD DNA:SNP:enhancer:-2548G>A (rs7799039) (human) PMID:28452232|REF_RGD_ID:15039399 11929106 LEP leptin gene DOID:783 end stage renal disease ISO RGD:69123 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9294834|REF_RGD_ID:10053636 11929106 LEP leptin gene DOID:8398 osteoarthritis severity ISO RGD:69123 D RGD:9068941 20200609 RGD protein:increased expression:tibia, cartilage, chondrocyte (human) PMID:14613274|REF_RGD_ID:10053634 11929106 LEP leptin gene DOID:850 lung disease ISO RGD:69124 D RGD:9068941 20200609 RGD acute lung injury associated pancreatitis PMID:17589942|REF_RGD_ID:5128844 11929106 LEP leptin gene DOID:874 bacterial pneumonia ISO RGD:69124 D RGD:9068941 20200609 RGD PMID:11937559|REF_RGD_ID:5128871 11929106 LEP leptin gene DOID:8778 Crohn's disease ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21829567 11929106 LEP leptin gene DOID:9000039 Spinal Cord Injuries ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:19777863|REF_RGD_ID:5128780 11929106 LEP leptin gene DOID:9000808 Hypercholesterolemia ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:22948215|REF_RGD_ID:12904911 11929106 LEP leptin gene DOID:9000808 Hypercholesterolemia ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25086370 11929106 LEP leptin gene DOID:9000998 Brain Injuries ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:21276361|REF_RGD_ID:5128517 11929106 LEP leptin gene DOID:9001044 Choroidal Neovascularization ISO RGD:3000 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X;mRNA:increased expression:retina (rat) PMID:25380250|REF_RGD_ID:10053625 11929106 LEP leptin gene DOID:9001443 Hypercapnia ISO RGD:69123 D RGD:9068941 20200609 RGD associated with obesity PMID:11809994|REF_RGD_ID:5128875 11929106 LEP leptin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:20509998|REF_RGD_ID:5128589 11929106 LEP leptin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12586293|PMID:16097051|PMID:29248466 11929106 LEP leptin gene DOID:9001573 Experimental Liver Cirrhosis disease_progression ISO RGD:69124 D RGD:9068941 20200609 RGD PMID:19065677|REF_RGD_ID:5128713 11929106 LEP leptin gene DOID:9001981 Weight Loss ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27417254 11929106 LEP leptin gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:69124 D RGD:9068941 20200609 RGD PMID:17822444|REF_RGD_ID:5128869 11929106 LEP leptin gene DOID:9002165 Diabetic Nephropathies ISO RGD:69124 D RGD:9068941 20200609 RGD PMID:22773754|REF_RGD_ID:6907074 11929106 LEP leptin gene DOID:9002221 Hyperplasia ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27712037 11929106 LEP leptin gene DOID:9002231 Fetal Growth Retardation ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:21353474|REF_RGD_ID:5128507 11929106 LEP leptin gene DOID:9002304 Prostatic Neoplasms ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15042602 11929106 LEP leptin gene DOID:9002331 Knee Osteoarthritis ISO RGD:69123 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:23575542|REF_RGD_ID:10411887 11929106 LEP leptin gene DOID:9002457 Experimental Arthritis ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15142272 11929106 LEP leptin gene DOID:9002554 Tachycardia ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16827954 11929106 LEP leptin gene DOID:9002916 Hyperphagia ISO RGD:69123 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12177191|PMID:25086370|PMID:26186301|PMID:27071101 11929106 LEP leptin gene DOID:9002928 Colonic Neoplasms ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17354198 11929106 LEP leptin gene DOID:9002955 Nerve Degeneration ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17993459 11929106 LEP leptin gene DOID:9003287 Body Weight Changes ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:21328617|REF_RGD_ID:5128513 11929106 LEP leptin gene DOID:9003370 Dyslipidemias ISO RGD:3000 D RGD:9068941 20200609 RGD protein:altered expression: serum (rat) PMID:29089335|REF_RGD_ID:21410183 11929106 LEP leptin gene DOID:9003370 Dyslipidemias ISO RGD:69123 D RGD:9068941 20200609 RGD protein:altered expression: serum (rat) PMID:29089335|REF_RGD_ID:21410183 11929106 LEP leptin gene DOID:9003370 Dyslipidemias ISO RGD:69124 D RGD:9068941 20200609 RGD protein:altered expression: serum (rat) PMID:29089335|REF_RGD_ID:21410183 11929106 LEP leptin gene DOID:9003671 Hypoventilation ISO RGD:69123 D RGD:9068941 20200609 RGD Obesity Hypoventilation Syndrome PMID:16179823|REF_RGD_ID:5128870 11929106 LEP leptin gene DOID:9004009 Reperfusion Injury ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:21086559|REF_RGD_ID:5128549 11929106 LEP leptin gene DOID:9004017 Chronic Hepatitis C ISO RGD:3000 D RGD:9068941 20200609 RGD protein:altered localization:serum (human) PMID:11336170|REF_RGD_ID:21201249 11929106 LEP leptin gene DOID:9004017 Chronic Hepatitis C ISO RGD:69123 D RGD:9068941 20200609 RGD protein:altered localization:serum (human) PMID:11336170|REF_RGD_ID:21201249 11929106 LEP leptin gene DOID:9004017 Chronic Hepatitis C ISO RGD:69124 D RGD:9068941 20200609 RGD protein:altered localization:serum (human) PMID:11336170|REF_RGD_ID:21201249 11929106 LEP leptin gene DOID:9004484 Sepsis ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:18575315|REF_RGD_ID:5128818 11929106 LEP leptin gene DOID:9004657 Weight Gain ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15070752|PMID:15809509|PMID:17502770|PMID:19716478|PMID:21561152|PMID:23839791|PMID:25086370|PMID:27472835|PMID:29967158 11929106 LEP leptin gene DOID:9005005 Oral Ulcer ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16391412 11929106 LEP leptin gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:22246620|REF_RGD_ID:8694468 11929106 LEP leptin gene DOID:9005274 Polyuria ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25086370 11929106 LEP leptin gene DOID:9005369 Hepatomegaly ISO RGD:69123 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:19716478|PMID:27071101 11929106 LEP leptin gene DOID:9005372 Inflammation ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14599722|PMID:27712037 11929106 LEP leptin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:19491210|REF_RGD_ID:2311124 11929106 LEP leptin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69123 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:28242381|PMID:31313498|PMID:31483951 11929106 LEP leptin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69124 D RGD:9068941 20200609 RGD PMID:19428774|REF_RGD_ID:2311126 11929106 LEP leptin gene DOID:9005643 Experimental Diabetes Mellitus onset ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:20695765|REF_RGD_ID:5128579 11929106 LEP leptin gene DOID:9006223 Kidney Reperfusion Injury resistance ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:22969992|REF_RGD_ID:6909133 11929106 LEP leptin gene DOID:9006599 Hypertriglyceridemia ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:22948215|REF_RGD_ID:12904911 11929106 LEP leptin gene DOID:9006646 Metabolic Syndrome ISO RGD:3000 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:25380250|REF_RGD_ID:10053625 11929106 LEP leptin gene DOID:9006646 Metabolic Syndrome ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16793964|PMID:18515891 11929106 LEP leptin gene DOID:9006646 Metabolic Syndrome ISO RGD:69123 D RGD:9068941 20200609 RGD PMID:19462476|REF_RGD_ID:2311125 11929106 LEP leptin gene DOID:9006727 Polydipsia ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25086370 11929106 LEP leptin gene DOID:9007456 Female Infertility ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22265003 11929106 LEP leptin gene DOID:9007692 Insulin Resistance ISO RGD:3000 D RGD:9068941 20200609 RGD DNA:nonsense mutation:cds: PMID:23800849|REF_RGD_ID:8549777 11929106 LEP leptin gene DOID:9007692 Insulin Resistance ISO RGD:3000 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19296906|REF_RGD_ID:5128697 11929106 LEP leptin gene DOID:9007692 Insulin Resistance ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10753628|PMID:11342529|PMID:24150608 11929106 LEP leptin gene DOID:9007692 Insulin Resistance ISO RGD:69123 D RGD:9068941 20200609 RGD associated with Obesity PMID:19419916|REF_RGD_ID:2311127 11929106 LEP leptin gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:21122204|REF_RGD_ID:5128547 11929106 LEP leptin gene DOID:9007996 End Stage Liver Disease ISO RGD:3000 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:9640405|REF_RGD_ID:25330350 11929106 LEP leptin gene DOID:9007996 End Stage Liver Disease ISO RGD:69123 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:9640405|REF_RGD_ID:25330350 11929106 LEP leptin gene DOID:9007996 End Stage Liver Disease ISO RGD:69124 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:9640405|REF_RGD_ID:25330350 11929106 LEP leptin gene DOID:9008763 Femoral Fractures ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:21276361|REF_RGD_ID:5128517 11929106 LEP leptin gene DOID:9008939 Breast Neoplasms ISO RGD:69123 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:21353530|PMID:35191604 11929106 LEP leptin gene DOID:9351 diabetes mellitus ISO RGD:69123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 11929106 LEP leptin gene DOID:9352 type 2 diabetes mellitus ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:19289493|REF_RGD_ID:2311130 11929106 LEP leptin gene DOID:9352 type 2 diabetes mellitus ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15070752 11929106 LEP leptin gene DOID:9352 type 2 diabetes mellitus ISO RGD:69124 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 11929106 LEP leptin gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:69123 D RGD:9068941 20200806 RGD DNA:SNP,haplotype:promoter,3'utr: -632G>A, +4998A>C (human) PMID:18564365|REF_RGD_ID:2311139 11929106 LEP leptin gene DOID:9452 fatty liver disease ISO RGD:69123 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:12661780|PMID:19716478|PMID:23839791|PMID:24525044|PMID:25554529|PMID:27071101|PMID:27712037 11929106 LEP leptin gene DOID:9452 fatty liver disease ISO RGD:69124 D RGD:9068941 20220825 MouseDO OMIM:228100 11929106 LEP leptin gene DOID:9452 fatty liver disease severity ISO RGD:3000 D RGD:9068941 20200609 RGD associated with morbid obesity;protein:decreased exprssion:serum (human) PMID:28281237|REF_RGD_ID:21201250 11929106 LEP leptin gene DOID:9452 fatty liver disease severity ISO RGD:69123 D RGD:9068941 20200609 RGD associated with morbid obesity;protein:decreased exprssion:serum (human) PMID:28281237|REF_RGD_ID:21201250 11929106 LEP leptin gene DOID:9452 fatty liver disease severity ISO RGD:69124 D RGD:9068941 20200609 RGD associated with morbid obesity;protein:decreased exprssion:serum (human) PMID:28281237|REF_RGD_ID:21201250 11929106 LEP leptin gene DOID:9970 obesity ISO RGD:69123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity PMID:25741868|PMID:28492532 11929106 LEP leptin gene DOID:9970 obesity no_association ISO RGD:69123 D RGD:9068941 20200609 RGD in a US Caucasian population PMID:15910756|REF_RGD_ID:1643130 11929106 LEP leptin gene DOID:9970 obesity treatment ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:23793169|REF_RGD_ID:10053638 11929106 LEP leptin gene DOID:9970 obesity treatment ISO RGD:69124 D RGD:9068941 20200609 RGD mouse protein in a rat model PMID:10029567|REF_RGD_ID:10053612 11929106 LEP leptin gene DOID:9976 heroin dependence ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15717844 11929106 Lep leptin gene DOID:0050741 alcohol dependence ISO RGD:3000 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:29912265|REF_RGD_ID:21201248 11929106 Lep leptin gene DOID:0050741 alcohol dependence ISO RGD:69124 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:29912265|REF_RGD_ID:21201248 11929127 CZIB CXXC motif containing zinc binding protein gene DOID:0060235 carnitine palmitoyltransferase II deficiency ISO RGD:1603028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency 11929139 SRPK1 SRSF protein kinase 1 gene DOID:0050553 JMP syndrome ISO RGD:1317950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11929139 SRPK1 SRSF protein kinase 1 gene DOID:630 genetic disease ISO RGD:1317950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11929158 RGN regucalcin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11929158 RGN regucalcin gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:732128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11929158 RGN regucalcin gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:732128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders PMID:14985377|PMID:21441247|PMID:28492532 11929158 RGN regucalcin gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:732128 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 11929158 RGN regucalcin gene DOID:10534 stomach cancer severity ISO RGD:732128 D RGD:9068941 20220616 RGD mRNA:altered expression:stomach tumor (human) PMID:28035468|REF_RGD_ID:152995287 11929158 RGN regucalcin gene DOID:1168 familial hyperlipidemia ISO RGD:3560 D RGD:9068941 20200609 RGD PMID:15375596|REF_RGD_ID:9590273 11929158 RGN regucalcin gene DOID:12849 autistic disorder ISO RGD:732128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11929158 RGN regucalcin gene DOID:1289 neurodegenerative disease ISO RGD:11237 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:19437547|REF_RGD_ID:9590213 11929158 RGN regucalcin gene DOID:5082 liver cirrhosis ISO RGD:732128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11929158 RGN regucalcin gene DOID:557 kidney disease ISO RGD:732128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18805471 11929158 RGN regucalcin gene DOID:630 genetic disease ISO RGD:732128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11929158 RGN regucalcin gene DOID:684 hepatocellular carcinoma ISO RGD:3560 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:21683810|REF_RGD_ID:5509919 11929158 RGN regucalcin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 11929158 RGN regucalcin gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:732128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 11929158 RGN regucalcin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11929158 RGN regucalcin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3560 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:9062895|REF_RGD_ID:9590177 11929158 RGN regucalcin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11929176 PTPN23 protein tyrosine phosphatase non-receptor type 23 gene DOID:630 genetic disease ISO RGD:1348801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31395947 11929176 PTPN23 protein tyrosine phosphatase non-receptor type 23 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1348801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11929176 PTPN23 protein tyrosine phosphatase non-receptor type 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11929176 PTPN23 protein tyrosine phosphatase non-receptor type 23 gene DOID:9005433 NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY ISO RGD:1348801 D RGD:7240710 20200812 OMIM 11929176 PTPN23 protein tyrosine phosphatase non-receptor type 23 gene DOID:9005433 NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY ISO RGD:1348801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity PMID:25558065|PMID:25741868|PMID:27848944|PMID:28492532|PMID:29090338|PMID:29899372|PMID:31395947 11929176 PTPN23 protein tyrosine phosphatase non-receptor type 23 gene DOID:9008051 Luscan-Lumish Syndrome ISO RGD:1348801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Luscan-Lumish syndrome PMID:28492532 11929176 PTPN23 protein tyrosine phosphatase non-receptor type 23 gene DOID:9008086 Developmental Disabilities ISO RGD:1348801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065|PMID:25741868|PMID:28492532|PMID:31395947 11929206 RGS11 regulator of G protein signaling 11 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1321340 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11929206 RGS11 regulator of G protein signaling 11 gene DOID:1826 epilepsy ISO RGD:1321340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 11929206 RGS11 regulator of G protein signaling 11 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1321340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11929206 RGS11 regulator of G protein signaling 11 gene DOID:630 genetic disease ISO RGD:1321340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11929234 MORN4 MORN repeat containing 4 gene DOID:630 genetic disease ISO RGD:1316472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11929242 MAN1B1 mannosidase alpha class 1B member 1 gene DOID:0050777 Joubert syndrome ISO RGD:1347467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11929242 MAN1B1 mannosidase alpha class 1B member 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1347467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11929242 MAN1B1 mannosidase alpha class 1B member 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1347467 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11929242 MAN1B1 mannosidase alpha class 1B member 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1347467 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11929242 MAN1B1 mannosidase alpha class 1B member 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1347467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11929242 MAN1B1 mannosidase alpha class 1B member 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1347467 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11929242 MAN1B1 mannosidase alpha class 1B member 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1347467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 11929242 MAN1B1 mannosidase alpha class 1B member 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1347467 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11929242 MAN1B1 mannosidase alpha class 1B member 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1347467 D RGD:7240710 20180130 OMIM 11929242 MAN1B1 mannosidase alpha class 1B member 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1347467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MAN1B1-CDG | ClinVar Annotator: match by term: Rafiq syndrome PMID:17576681|PMID:18414213|PMID:21763484|PMID:21937992|PMID:24348268|PMID:24566669|PMID:25741868|PMID:26279649|PMID:27148587|PMID:28492532|PMID:28940310|PMID:29908352|PMID:30982612|PMID:9536098 11929242 MAN1B1 mannosidase alpha class 1B member 1 gene DOID:1059 intellectual disability ISO RGD:1347467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11929242 MAN1B1 mannosidase alpha class 1B member 1 gene DOID:1826 epilepsy ISO RGD:1347467 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 11929242 MAN1B1 mannosidase alpha class 1B member 1 gene DOID:3652 Leigh disease ISO RGD:1347467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11929242 MAN1B1 mannosidase alpha class 1B member 1 gene DOID:630 genetic disease ISO RGD:1347467 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:21763484|PMID:21937992|PMID:24348268|PMID:24566669|PMID:25741868|PMID:26279649|PMID:27148587|PMID:28492532|PMID:29908352 11929242 MAN1B1 mannosidase alpha class 1B member 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1347467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11929242 MAN1B1 mannosidase alpha class 1B member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1347467 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:21763484|PMID:21937992|PMID:24348268|PMID:24566669|PMID:25741868|PMID:26279649|PMID:27148587|PMID:29908352 11929262 ARSB arylsulfatase B gene DOID:0060041 autism spectrum disorder ISO RGD:737370 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11929262 ARSB arylsulfatase B gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:737370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 11929262 ARSB arylsulfatase B gene DOID:10581 metachromatic leukodystrophy ISO RGD:737370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10923267|PMID:11939792|PMID:14974081|PMID:1550123|PMID:16435196|PMID:17458871|PMID:17643332|PMID:18406185|PMID:21514195|PMID:21791832|PMID:21917494|PMID:22133300|PMID:22441840|PMID:23557332|PMID:23657977|PMID:24221504|PMID:24373060|PMID:24767253|PMID:25741868|PMID:28492532|PMID:30118150|PMID:8116615|PMID:8651289 11929262 ARSB arylsulfatase B gene DOID:12800 mucopolysaccharidosis VI ISO RGD:737370 D RGD:7240710 20180130 OMIM 11929262 ARSB arylsulfatase B gene DOID:12800 mucopolysaccharidosis VI ISO RGD:737370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 | ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, intermediate | ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, mild | ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, severe PMID:10036316|PMID:10206678|PMID:10738004|PMID:10923267|PMID:11668612|PMID:11802522|PMID:11939792|PMID:1301949|PMID:14974081|PMID:15000815|PMID:1550123|PMID:15603718|PMID:15979036|PMID:16199547|PMID:16435196|PMID:16949067|PMID:17161971|PMID:1718978|PMID:17458871|PMID:17576681|PMID:17643332|PMID:17672828|PMID:18406185|PMID:18486607|PMID:19259130|PMID:19763152|PMID:19968667|PMID:20143913|PMID:20307669|PMID:21514195|PMID:21791831|PMID:21791832|PMID:21813902|PMID:21917494|PMID:21930407|PMID:21996138|PMID:22133300|PMID:22406018|PMID:22441840|PMID:22971959|PMID:22976768|PMID:23023219|PMID:23430861|PMID:23458163|PMID:23557332|PMID:23633437|PMID:23657977|PMID:23855929|PMID:23949968|PMID:24033266|PMID:24053568|PMID:24107440|PMID:24221504|PMID:24243352|PMID:24262793|PMID:24373060|PMID:24677745|PMID:24767253|PMID:24798265|PMID:24875751|PMID:25190157|PMID:25640679|PMID:25654180|PMID:25741868|PMID:25797215|PMID:26287674|PMID:26450354|PMID:26609033|PMID:26909334|PMID:26910003|PMID:26937411|PMID:27797586|PMID:27826022|PMID:28492532|PMID:28552677|PMID:28649537|PMID:28858097|PMID:28884960|PMID:28914427|PMID:29202552|PMID:30083803|PMID:30118150|PMID:30524696|PMID:30809705|PMID:30982216|PMID:31009684|PMID:32075597|PMID:32860008|PMID:33163362|PMID:33673364|PMID:4974081|PMID:7733883|PMID:8116615|PMID:8125475|PMID:8144552|PMID:8541342|PMID:8651289|PMID:8723688|PMID:8752530|PMID:9536098 11929262 ARSB arylsulfatase B gene DOID:12800 mucopolysaccharidosis VI susceptibility ISO RGD:2158 D RGD:9068941 20200609 RGD PMID:8575749|REF_RGD_ID:631738 11929262 ARSB arylsulfatase B gene DOID:12800 mucopolysaccharidosis VI susceptibility ISO RGD:737370 D RGD:9068941 20200609 RGD PMID:1550123|REF_RGD_ID:1599228 11929262 ARSB arylsulfatase B gene DOID:12800 mucopolysaccharidosis VI treatment ISO RGD:2158 D RGD:9068941 20201001 RGD PMID:21887218|REF_RGD_ID:39131283 11929262 ARSB arylsulfatase B gene DOID:5419 schizophrenia ISO RGD:737370 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11929262 ARSB arylsulfatase B gene DOID:630 genetic disease ISO RGD:737370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17458871|PMID:23557332|PMID:25741868|PMID:28492532|PMID:28552677|PMID:30118150 11929262 ARSB arylsulfatase B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11929274 ANKRD7 ankyrin repeat domain 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11929274 ANKRD7 ankyrin repeat domain 7 gene DOID:630 genetic disease ISO RGD:1352130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11929292 TPM2 tropomyosin 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1605428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11929292 TPM2 tropomyosin 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1605428 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11929292 TPM2 tropomyosin 2 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1605428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:25741868 11929292 TPM2 tropomyosin 2 gene DOID:0080600 COVID-19 ISO RGD:1605428 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11929292 TPM2 tropomyosin 2 gene DOID:0080942 anauxetic dysplasia ISO RGD:1605428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11929292 TPM2 tropomyosin 2 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1605428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:11738357|PMID:23757202|PMID:25741868|PMID:26467025|PMID:28492532 11929292 TPM2 tropomyosin 2 gene DOID:0110932 nemaline myopathy 4 ISO RGD:1605428 D RGD:7240710 20180130 OMIM 11929292 TPM2 tropomyosin 2 gene DOID:0110932 nemaline myopathy 4 ISO RGD:1605428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cap myopathy 2 | ClinVar Annotator: match by term: Nemaline myopathy 4 | ClinVar Annotator: match by term: TPM2-related cap myopathy PMID:11738357|PMID:17846275|PMID:18414213|PMID:18420702|PMID:18422639|PMID:18789687|PMID:19047562|PMID:20301436|PMID:22084935|PMID:22832343|PMID:23689010|PMID:23886664|PMID:24033266|PMID:24039757|PMID:24657080|PMID:24692096|PMID:25741868|PMID:25978979|PMID:26467025|PMID:26708479|PMID:27854218|PMID:28492532|PMID:30545627|PMID:31966463|PMID:33060286|PMID:34008892 11929292 TPM2 tropomyosin 2 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1605428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11929292 TPM2 tropomyosin 2 gene DOID:0111596 distal arthrogryposis type 1 ISO RGD:1605428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I PMID:19155175|PMID:27726070|PMID:28492532 11929292 TPM2 tropomyosin 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1605428 D RGD:7240710 20180130 OMIM 11929292 TPM2 tropomyosin 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1605428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:11738357|PMID:12592607|PMID:16199547|PMID:17194691|PMID:17339586|PMID:17576681|PMID:17846275|PMID:18414213|PMID:18420702|PMID:18422639|PMID:18789687|PMID:19047562|PMID:19155175|PMID:20301436|PMID:22084935|PMID:22749895|PMID:22832343|PMID:22980765|PMID:23401156|PMID:23678273|PMID:23689010|PMID:23757202|PMID:23886664|PMID:24033266|PMID:24039757|PMID:24214167|PMID:24657080|PMID:24692096|PMID:25741868|PMID:25978979|PMID:26467025|PMID:26708479|PMID:26752647|PMID:27726070|PMID:27854218|PMID:28492532|PMID:30545627|PMID:31966463|PMID:32092148|PMID:33060286|PMID:7977374|PMID:9536098 11929292 TPM2 tropomyosin 2 gene DOID:0111600 distal arthrogryposis type 2B1 ISO RGD:1605428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 PMID:25741868 11929292 TPM2 tropomyosin 2 gene DOID:3191 nemaline myopathy ISO RGD:1605428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Dominant PMID:11738357|PMID:23757202|PMID:25741868|PMID:26467025|PMID:28492532 11929292 TPM2 tropomyosin 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1605428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 11929292 TPM2 tropomyosin 2 gene DOID:630 genetic disease ISO RGD:1605428 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11929292 TPM2 tropomyosin 2 gene DOID:9001483 Distal Arthrogryposis Type 2B4 ISO RGD:1605428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B4 PMID:17339586|PMID:23678273|PMID:24692096|PMID:25741868|PMID:27726070|PMID:28492532|PMID:30285720|PMID:32092148 11929292 TPM2 tropomyosin 2 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1605428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11929292 TPM2 tropomyosin 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11929292 TPM2 tropomyosin 2 gene DOID:9870 galactosemia ISO RGD:1605428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11929313 KRT23 keratin 23 gene DOID:630 genetic disease ISO RGD:1318841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11929329 ADGRF4 adhesion G protein-coupled receptor F4 gene DOID:5419 schizophrenia ISO RGD:1315496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 11929329 ADGRF4 adhesion G protein-coupled receptor F4 gene DOID:630 genetic disease ISO RGD:1315496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11929347 ZDHHC5 zinc finger DHHC-type palmitoyltransferase 5 gene DOID:1059 intellectual disability ISO RGD:1314627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11929347 ZDHHC5 zinc finger DHHC-type palmitoyltransferase 5 gene DOID:630 genetic disease ISO RGD:1314627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11929371 FUOM fucose mutarotase gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1322512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11929371 FUOM fucose mutarotase gene DOID:630 genetic disease ISO RGD:1322512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11929399 SPSB1 splA/ryanodine receptor domain and SOCS box containing 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1604788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11929399 SPSB1 splA/ryanodine receptor domain and SOCS box containing 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604788 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11929399 SPSB1 splA/ryanodine receptor domain and SOCS box containing 1 gene DOID:630 genetic disease ISO RGD:1604788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11929399 SPSB1 splA/ryanodine receptor domain and SOCS box containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11929417 ZNF320 zinc finger protein 320 gene DOID:630 genetic disease ISO RGD:1605850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11929463 HSPG2 heparan sulfate proteoglycan 2 gene DOID:0060224 atrial fibrillation ISO RGD:1351428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 11929463 HSPG2 heparan sulfate proteoglycan 2 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1351428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11929463 HSPG2 heparan sulfate proteoglycan 2 gene DOID:0060770 dextro-looped transposition of the great arteries ISO RGD:1558001 D RGD:9068941 20220825 MouseDO 11929463 HSPG2 heparan sulfate proteoglycan 2 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1351428 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11929463 HSPG2 heparan sulfate proteoglycan 2 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1351428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11929463 HSPG2 heparan sulfate proteoglycan 2 gene DOID:0090005 Schwartz-Jampel syndrome 1 ISO RGD:1351428 D RGD:7240710 20180704 OMIM 11929463 HSPG2 heparan sulfate proteoglycan 2 gene DOID:0090005 Schwartz-Jampel syndrome 1 ISO RGD:1351428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar Annotator: match by term: Schwartz-Jampel syndrome type 1 PMID:11038441|PMID:11101850|PMID:11279527|PMID:11941538|PMID:16199547|PMID:16927315|PMID:17213231|PMID:20080505|PMID:20542149|PMID:20644199|PMID:21228398|PMID:23836246|PMID:24088041|PMID:24781210|PMID:24912484|PMID:25504735|PMID:25741868|PMID:25803036|PMID:26467025|PMID:26508570|PMID:26633545|PMID:27268795|PMID:27521129|PMID:27766954|PMID:28242392|PMID:28492532|PMID:29271572|PMID:29302074|PMID:29901129|PMID:30362252 11929463 HSPG2 heparan sulfate proteoglycan 2 gene DOID:0090032 Silverman-Handmaker type dyssegmental dysplasia ISO RGD:1351428 D RGD:7240710 20180130 OMIM 11929463 HSPG2 heparan sulfate proteoglycan 2 gene DOID:0090032 Silverman-Handmaker type dyssegmental dysplasia ISO RGD:1351428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyssegmental Dysplasia | ClinVar Annotator: match by term: Qualitative or quantitative defects of perlecan PMID:25741868|PMID:28492532 11929463 HSPG2 heparan sulfate proteoglycan 2 gene DOID:10763 hypertension ISO RGD:621770 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:8225534|REF_RGD_ID:1624258 11929463 HSPG2 heparan sulfate proteoglycan 2 gene DOID:10907 microcephaly ISO RGD:1351428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11929463 HSPG2 heparan sulfate proteoglycan 2 gene DOID:13481 thanatophoric dysplasia ISO RGD:1558001 D RGD:9068941 20220825 MouseDO OMIM:187600 | OMIM:187601 | OMIM:273680 11929463 HSPG2 heparan sulfate proteoglycan 2 gene DOID:2256 osteochondrodysplasia ISO RGD:1351428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities PMID:25741868|PMID:28492532 11929463 HSPG2 heparan sulfate proteoglycan 2 gene DOID:2256 osteochondrodysplasia susceptibility ISO RGD:1351428 D RGD:9068941 20200609 RGD Schwartz-Jampel syndrome, OMIM:255800;DNA:missense mutations, splice-site mutations PMID:11101850|REF_RGD_ID:1624267 11929463 HSPG2 heparan sulfate proteoglycan 2 gene DOID:3407 carotid artery disease ISO RGD:1351428 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:carotid artery PMID:16620836|REF_RGD_ID:1624254 11929463 HSPG2 heparan sulfate proteoglycan 2 gene DOID:4195 hyperglycemia ISO RGD:1351428 D RGD:9068941 20200609 RGD protein:decreased expression:endothelial cell PMID:15056491|REF_RGD_ID:1624255 11929463 HSPG2 heparan sulfate proteoglycan 2 gene DOID:630 genetic disease ISO RGD:1351428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25504735|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30362252|PMID:30871259|PMID:9536098 11929463 HSPG2 heparan sulfate proteoglycan 2 gene DOID:65 connective tissue disease ISO RGD:1351428 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:16927315|PMID:17576681|PMID:21228398|PMID:24088041|PMID:24781210|PMID:25504735|PMID:25741868|PMID:25803036|PMID:26467025|PMID:26633545|PMID:28492532|PMID:29271572|PMID:9536098 11929463 HSPG2 heparan sulfate proteoglycan 2 gene DOID:9004577 Stuve-Wiedemann Syndrome ISO RGD:1351428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stuve-Wiedemann syndrome PMID:25741868|PMID:28492532 11929463 HSPG2 heparan sulfate proteoglycan 2 gene DOID:9005084 Kniest Like Dysplasia Lethal ISO RGD:1351428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lethal Kniest-like syndrome PMID:11279527|PMID:17576681|PMID:24088041|PMID:24781210|PMID:25504735|PMID:25741868|PMID:25741881|PMID:25803036|PMID:26467025|PMID:26508570|PMID:26633545|PMID:28242392|PMID:28492532|PMID:29271572|PMID:29620724|PMID:29901129|PMID:30362252|PMID:34244600|PMID:34906502|PMID:9536098 11929463 HSPG2 heparan sulfate proteoglycan 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621770 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina PMID:9068943|REF_RGD_ID:1624265 11929463 HSPG2 heparan sulfate proteoglycan 2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1351428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11929463 HSPG2 heparan sulfate proteoglycan 2 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1351428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 11929463 HSPG2 heparan sulfate proteoglycan 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1351428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10545953 11929463 HSPG2 heparan sulfate proteoglycan 2 gene DOID:9008909 Stuve-Wiedemann Syndrome 1 ISO RGD:1351428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stüve-Wiedemann syndrome PMID:25741868|PMID:28492532 11929565 HP1BP3 heterochromatin protein 1 binding protein 3 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1606796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11929565 HP1BP3 heterochromatin protein 1 binding protein 3 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1606796 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11929565 HP1BP3 heterochromatin protein 1 binding protein 3 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1606796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11929565 HP1BP3 heterochromatin protein 1 binding protein 3 gene DOID:630 genetic disease ISO RGD:1606796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11929565 HP1BP3 heterochromatin protein 1 binding protein 3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1606796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11929589 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:0050787 juvenile polyposis syndrome ISO RGD:734372 D RGD:7240710 20180130 OMIM 11929589 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:0050787 juvenile polyposis syndrome ISO RGD:734372 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15235019|PMID:16152648|PMID:16199547|PMID:16287957|PMID:16436638|PMID:16525031|PMID:16685657|PMID:16705692|PMID:16902903|PMID:17295905|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18160401|PMID:18178612|PMID:18456716|PMID:18510548|PMID:18823382|PMID:19438883|PMID:20843829|PMID:20845481|PMID:21153778|PMID:21194675|PMID:21203531|PMID:21872883|PMID:22067610|PMID:22138346|PMID:22703879|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25326637|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28660566|PMID:28717660|PMID:29146900|PMID:29212164|PMID:29338689|PMID:29522511|PMID:29641532|PMID:29909963|PMID:29950348|PMID:30029678|PMID:30093976|PMID:30267214|PMID:30374176|PMID:30426508|PMID:30613976|PMID:30680046|PMID:30809968|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31727138|PMID:31769494|PMID:31780696|PMID:31949278|PMID:32068069|PMID:32459922|PMID:33032550|PMID:33097490|PMID:33110269|PMID:33821390|PMID:36632626|PMID:8397373|PMID:9286463|PMID:9467011|PMID:9536098 11929589 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:0060389 chromosome 10q23 deletion syndrome ISO RGD:734373 D RGD:9068941 20220825 MouseDO OMIM:612242 11929589 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:0080006 bone development disease ISO RGD:734372 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BMPR1A Skeletal Dysplasia Syndrome PMID:25741868|PMID:28492532|PMID:31493347 11929589 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:734372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 11929589 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:0080600 COVID-19 ISO RGD:734372 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11929589 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:0080645 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 ISO RGD:734372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 PMID:25741868|PMID:28492532|PMID:30093976 11929589 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:0111686 hereditary mixed polyposis syndrome 2 ISO RGD:734372 D RGD:7240710 20180130 OMIM 11929589 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:0111686 hereditary mixed polyposis syndrome 2 ISO RGD:734372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 2 PMID:11536076|PMID:12417513|PMID:12676908|PMID:14526373|PMID:15235019|PMID:16199547|PMID:16525031|PMID:17325551|PMID:18178612|PMID:18823382|PMID:20845481|PMID:23399955|PMID:23433720|PMID:24055113|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:2658044|PMID:26580448|PMID:26845104|PMID:26976419|PMID:27146957|PMID:28135145|PMID:28492532|PMID:28660566|PMID:28717660|PMID:30884445|PMID:33032550 11929589 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:14289 Ebstein anomaly ISO RGD:734373 D RGD:9068941 20220825 MouseDO OMIM:224700 11929589 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:1520 colon carcinoma ISO RGD:734372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:12417513|PMID:14526373|PMID:15235019|PMID:18823382|PMID:23399955|PMID:23433720|PMID:24055113|PMID:24728327|PMID:25058500|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26976419|PMID:27146957|PMID:28135145|PMID:28492532|PMID:28660566|PMID:31727138 11929589 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:1612 breast cancer ISO RGD:734372 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:22703879|PMID:23399955|PMID:24033266|PMID:24448499|PMID:24728327|PMID:25186627|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26436109|PMID:26580448|PMID:27153395|PMID:27621404|PMID:28492532 11929589 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:2394 ovarian cancer ISO RGD:734372 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 11929589 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:734373 D RGD:9068941 20220825 MouseDO OMIM:194200 11929589 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:5295 intestinal disease ISO RGD:734372 D RGD:9068941 20200609 RGD hereditary mixed polyposis syndrome-2, HMPS2, OMIM:610069, DNA:deletion:exon PMID:16525031|REF_RGD_ID:1600590 11929589 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:5295 intestinal disease ISO RGD:734372 D RGD:9068941 20200609 RGD juvenile polyposis syndrome, OMIM:174900 , DNA:deletion PMID:16685657|REF_RGD_ID:1600591 11929589 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:5295 intestinal disease ISO RGD:734372 D RGD:9068941 20200609 RGD juvenile polyposis, OMIM:174900, DNA:point mutation:exon:Q239X PMID:11381269|REF_RGD_ID:1600589 11929589 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:6225 Cronkhite-Canada syndrome ISO RGD:734372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal polyposis PMID:22703879|PMID:23399955|PMID:24033266|PMID:24448499|PMID:24728327|PMID:25186627|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26436109|PMID:27153395|PMID:27621404|PMID:28492532 11929589 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:6432 pulmonary hypertension ISO RGD:734372 D RGD:9068941 20200609 RGD PMID:19324947|REF_RGD_ID:5129472 11929589 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:8398 osteoarthritis ISO RGD:734373 D RGD:9068941 20220825 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 11929589 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:734372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease PMID:24121792|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30029678|PMID:31727138 11929589 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:9002739 Female Urogenital Diseases ISO RGD:734372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 11929589 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15064755|PMID:15235019|PMID:16199547|PMID:16436638|PMID:16705692|PMID:16902903|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18178612|PMID:18823382|PMID:20845481|PMID:21153778|PMID:21203531|PMID:22138346|PMID:22703879|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:26580448|PMID:26659599|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28492532|PMID:28660566|PMID:29212164|PMID:29522511|PMID:29909963|PMID:30029678|PMID:30093976|PMID:30374176|PMID:30426508|PMID:30809968|PMID:30884445|PMID:31159747|PMID:31727138|PMID:31780696|PMID:32068069|PMID:33032550|PMID:8397373|PMID:9536098 11929589 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734372 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15064755|PMID:15235019|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16525031|PMID:16672363|PMID:16705692|PMID:16902903|PMID:17295905|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18178612|PMID:18823382|PMID:18937504|PMID:20845481|PMID:21153778|PMID:21203531|PMID:22138346|PMID:22703879|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25326637|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26659599|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28660566|PMID:28717660|PMID:29146900|PMID:29212164|PMID:29338689|PMID:29522511|PMID:29641532|PMID:29909963|PMID:29950348|PMID:30029678|PMID:30093976|PMID:30267214|PMID:30374176|PMID:30426508|PMID:30680046|PMID:30809968|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31727138|PMID:31769494|PMID:31780696|PMID:31949278|PMID:32068069|PMID:32459922|PMID:33032550|PMID:33110269|PMID:33821390|PMID:36632626|PMID:9536098 11929589 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:9007253 Hamartoma ISO RGD:734372 D RGD:9068941 20200609 RGD Cowden-like syndrome, OMIM:158350, DNA:point mutation:exon:A338D PMID:11536076|REF_RGD_ID:734650 11929589 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:9008296 Eye Abnormalities ISO RGD:734372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15804571 11929589 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:9008731 Craniofacial Abnormalities ISO RGD:734372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15804571 11929614 TAMM41 TAM41 mitochondrial translocator assembly and maintenance homolog gene DOID:630 genetic disease ISO RGD:1602301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11929614 TAMM41 TAM41 mitochondrial translocator assembly and maintenance homolog gene DOID:9000123 Deglutition Disorders ISO RGD:1602301 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dysphagia PMID:35321494 11929614 TAMM41 TAM41 mitochondrial translocator assembly and maintenance homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11929614 TAMM41 TAM41 mitochondrial translocator assembly and maintenance homolog gene DOID:9005603 Muscle Hypotonia ISO RGD:1602301 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:35321494 11929614 TAMM41 TAM41 mitochondrial translocator assembly and maintenance homolog gene DOID:9009069 Combined Oxidative Phosphorylation Deficiency 56 ISO RGD:1602301 D RGD:7240710 20221214 OMIM 11929614 TAMM41 TAM41 mitochondrial translocator assembly and maintenance homolog gene DOID:9009069 Combined Oxidative Phosphorylation Deficiency 56 ISO RGD:1602301 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 56 PMID:35321494 11929629 TSEN34 tRNA splicing endonuclease subunit 34 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1348893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:18414213|PMID:25741868|PMID:28492532 11929629 TSEN34 tRNA splicing endonuclease subunit 34 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1348893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:18414213|PMID:25741868|PMID:28492532 11929629 TSEN34 tRNA splicing endonuclease subunit 34 gene DOID:0060269 pontocerebellar hypoplasia type 2C ISO RGD:1348893 D RGD:7240710 20180130 OMIM 11929629 TSEN34 tRNA splicing endonuclease subunit 34 gene DOID:0060269 pontocerebellar hypoplasia type 2C ISO RGD:1348893 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2C PMID:18414213|PMID:18711368|PMID:20301773|PMID:25741868|PMID:28492532 11929629 TSEN34 tRNA splicing endonuclease subunit 34 gene DOID:0081219 autosomal recessive intellectual developmental disorder 57 ISO RGD:1348893 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 57 PMID:25741868 11929629 TSEN34 tRNA splicing endonuclease subunit 34 gene DOID:1059 intellectual disability ISO RGD:1348893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 11929629 TSEN34 tRNA splicing endonuclease subunit 34 gene DOID:10907 microcephaly ISO RGD:1348893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 11929629 TSEN34 tRNA splicing endonuclease subunit 34 gene DOID:480 movement disease ISO RGD:1348893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 11929629 TSEN34 tRNA splicing endonuclease subunit 34 gene DOID:630 genetic disease ISO RGD:1348893 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11929629 TSEN34 tRNA splicing endonuclease subunit 34 gene DOID:9000123 Deglutition Disorders ISO RGD:1348893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 11929629 TSEN34 tRNA splicing endonuclease subunit 34 gene DOID:9000343 Vision Disorders ISO RGD:1348893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 11929653 COMT catechol-O-methyltransferase gene DOID:0050771 pheochromocytoma ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22569243 11929653 COMT catechol-O-methyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:737102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11929653 COMT catechol-O-methyltransferase gene DOID:0060041 autism spectrum disorder susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD associated with velocardiofacial syndrome;DNA:polymorphism:cds:rs4680(p.V158M)(human) PMID:25325218|REF_RGD_ID:13451123 11929653 COMT catechol-O-methyltransferase gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:737102 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 11929653 COMT catechol-O-methyltransferase gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:737102 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 11929653 COMT catechol-O-methyltransferase gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 11929653 COMT catechol-O-methyltransferase gene DOID:0080855 Parkinsonism ISO RGD:2379 D RGD:9068941 20200609 RGD PMID:15698633|REF_RGD_ID:2289785 11929653 COMT catechol-O-methyltransferase gene DOID:0111996 immunodeficiency 51 ISO RGD:737102 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11929653 COMT catechol-O-methyltransferase gene DOID:10283 prostate cancer disease_progression ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V158M PMID:16126332|REF_RGD_ID:2289720 11929653 COMT catechol-O-methyltransferase gene DOID:10283 prostate cancer no_association ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V158M PMID:17507624|REF_RGD_ID:2289719 11929653 COMT catechol-O-methyltransferase gene DOID:10283 prostate cancer susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism:cds PMID:16492910|REF_RGD_ID:2289718 11929653 COMT catechol-O-methyltransferase gene DOID:1059 intellectual disability ISO RGD:737102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11929653 COMT catechol-O-methyltransferase gene DOID:10591 pre-eclampsia ISO RGD:10378 D RGD:9068941 20220825 MouseDO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 11929653 COMT catechol-O-methyltransferase gene DOID:10763 hypertension ISO RGD:2379 D RGD:9068941 20200609 RGD PMID:14714585|PMID:17510509|REF_RGD_ID:2289787|REF_RGD_ID:8662344 11929653 COMT catechol-O-methyltransferase gene DOID:10763 hypertension ISO RGD:2379 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:17978496|REF_RGD_ID:2289729 11929653 COMT catechol-O-methyltransferase gene DOID:10763 hypertension susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :-1187G>C, 186C>T PMID:17143180|REF_RGD_ID:2289742 11929653 COMT catechol-O-methyltransferase gene DOID:10933 obsessive-compulsive disorder ISO RGD:737102 D RGD:9068941 20200609 RGD PMID:11840516|REF_RGD_ID:1300383 11929653 COMT catechol-O-methyltransferase gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10490706 11929653 COMT catechol-O-methyltransferase gene DOID:1094 attention deficit hyperactivity disorder no_association ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.V158M(human) PMID:24035255|REF_RGD_ID:13450946 11929653 COMT catechol-O-methyltransferase gene DOID:1094 attention deficit hyperactivity disorder susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:rs4680(p.V158M)(human) PMID:19946713|REF_RGD_ID:13450945 11929653 COMT catechol-O-methyltransferase gene DOID:1094 attention deficit hyperactivity disorder treatment ISO RGD:737102 D RGD:9068941 20200609 RGD PMID:27121430|REF_RGD_ID:13451120 11929653 COMT catechol-O-methyltransferase gene DOID:11054 urinary bladder cancer ISO RGD:737102 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder, urine PMID:15596044|REF_RGD_ID:2289726 11929653 COMT catechol-O-methyltransferase gene DOID:11198 DiGeorge syndrome ISO RGD:737102 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 11929653 COMT catechol-O-methyltransferase gene DOID:11372 megacolon ISO RGD:737102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11929653 COMT catechol-O-methyltransferase gene DOID:11612 polycystic ovary syndrome ISO RGD:737102 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:17535988|REF_RGD_ID:2289711 11929653 COMT catechol-O-methyltransferase gene DOID:12129 bulimia nervosa susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: PMID:21300128|REF_RGD_ID:13451125 11929653 COMT catechol-O-methyltransferase gene DOID:12306 vitiligo ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V158M (human) PMID:19112571|REF_RGD_ID:8662333 11929653 COMT catechol-O-methyltransferase gene DOID:12306 vitiligo no_association ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V158M (human) PMID:24915010|REF_RGD_ID:8662336 11929653 COMT catechol-O-methyltransferase gene DOID:12583 velocardiofacial syndrome ISO RGD:737102 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 11929653 COMT catechol-O-methyltransferase gene DOID:127 leiomyoma ISO RGD:737102 D RGD:9068941 20200609 RGD protein:increased expression:myometrium PMID:16730007|REF_RGD_ID:2289717 11929653 COMT catechol-O-methyltransferase gene DOID:127 leiomyoma susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD associated with Uterine Neoplasms;DNA:polymorphism: :p.V158M PMID:16443508|REF_RGD_ID:2289780 11929653 COMT catechol-O-methyltransferase gene DOID:12849 autistic disorder ISO RGD:737102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11929653 COMT catechol-O-methyltransferase gene DOID:12930 dilated cardiomyopathy ISO RGD:737102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 11929653 COMT catechol-O-methyltransferase gene DOID:12930 dilated cardiomyopathy ISO RGD:737102 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 11929653 COMT catechol-O-methyltransferase gene DOID:13078 eumycotic mycetoma severity ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: (rs4680) (human) PMID:20184498|REF_RGD_ID:8662334 11929653 COMT catechol-O-methyltransferase gene DOID:1380 endometrial cancer ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:12810635|REF_RGD_ID:2289723 11929653 COMT catechol-O-methyltransferase gene DOID:1380 endometrial cancer no_association ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V158M PMID:15285606|REF_RGD_ID:2289721 11929653 COMT catechol-O-methyltransferase gene DOID:1380 endometrial cancer susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V158M PMID:17442187|REF_RGD_ID:2289714 11929653 COMT catechol-O-methyltransferase gene DOID:150 disease of mental health ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16780746 11929653 COMT catechol-O-methyltransferase gene DOID:1561 cognitive disorder ISO RGD:10378 D RGD:9068941 20220825 MouseDO 11929653 COMT catechol-O-methyltransferase gene DOID:1561 cognitive disorder ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17123785 11929653 COMT catechol-O-methyltransferase gene DOID:1561 cognitive disorder severity ISO RGD:737102 D RGD:9068941 20200609 RGD associated with Bipolar Disorder;DNA:polymorphism: :p.V158M (human) PMID:16542182|REF_RGD_ID:8662329 11929653 COMT catechol-O-methyltransferase gene DOID:1574 alcohol use disorder ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10395222 11929653 COMT catechol-O-methyltransferase gene DOID:1612 breast cancer ISO RGD:737102 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:17507616|REF_RGD_ID:2289712 11929653 COMT catechol-O-methyltransferase gene DOID:1612 breast cancer disease_progression ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V158M PMID:17429315|REF_RGD_ID:2289715 11929653 COMT catechol-O-methyltransferase gene DOID:1612 breast cancer no_association ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V158M PMID:15285606|REF_RGD_ID:2289721 11929653 COMT catechol-O-methyltransferase gene DOID:1612 breast cancer susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V158M PMID:17562079|REF_RGD_ID:2289710 11929653 COMT catechol-O-methyltransferase gene DOID:1826 epilepsy ISO RGD:737102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11929653 COMT catechol-O-methyltransferase gene DOID:1935 Bardet-Biedl syndrome ISO RGD:737102 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868 11929653 COMT catechol-O-methyltransferase gene DOID:2213 hemorrhagic disease ISO RGD:737102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 11929653 COMT catechol-O-methyltransferase gene DOID:2394 ovarian cancer ISO RGD:737102 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:15010821|REF_RGD_ID:2289722 11929653 COMT catechol-O-methyltransferase gene DOID:2394 ovarian cancer no_association ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.V158M PMID:11142424|REF_RGD_ID:2289725 11929653 COMT catechol-O-methyltransferase gene DOID:2394 ovarian cancer susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V158M PMID:12036914|REF_RGD_ID:2289724 11929653 COMT catechol-O-methyltransferase gene DOID:3312 bipolar disorder ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11772685 11929653 COMT catechol-O-methyltransferase gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism:exon PMID:17220335|REF_RGD_ID:2289716 11929653 COMT catechol-O-methyltransferase gene DOID:4676 uremia ISO RGD:737102 D RGD:9068941 20200609 RGD protein:increased activity:erythrocyte PMID:7437264|REF_RGD_ID:8662343 11929653 COMT catechol-O-methyltransferase gene DOID:5419 schizophrenia ISO RGD:737102 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Schizophrenia | ClinVar Annotator: match by term: Schizophrenia, susceptibility to PMID:10395222|PMID:10459407|PMID:11171904|PMID:11381111|PMID:11502905|PMID:11772685|PMID:11925305|PMID:12192614|PMID:12359690|PMID:12402217|PMID:12436243|PMID:12595695|PMID:12611827|PMID:12716966|PMID:12842306|PMID:14966473|PMID:15169701|PMID:15457404|PMID:15457497|PMID:15645182|PMID:15652872|PMID:15821730|PMID:15824744|PMID:15935994|PMID:16043133|PMID:16130008|PMID:16135635|PMID:16275815|PMID:16513880|PMID:16542388|PMID:17504906|PMID:21280081|PMID:21681106|PMID:25741868|PMID:30208311|PMID:7304673|PMID:7585135|PMID:8807664|PMID:8886163|PMID:8941353|PMID:9110364 11929653 COMT catechol-O-methyltransferase gene DOID:5419 schizophrenia susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: (rs6267) (human) PMID:19881467|REF_RGD_ID:8662335 11929653 COMT catechol-O-methyltransferase gene DOID:5419 schizophrenia treatment ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:rs4680(p.V158M)(human) PMID:26255563|REF_RGD_ID:11353078 11929653 COMT catechol-O-methyltransferase gene DOID:594 panic disorder ISO RGD:737102 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM PMID:10395222|PMID:10459407|PMID:11171904|PMID:11381111|PMID:11502905|PMID:11772685|PMID:11925305|PMID:12192614|PMID:12359690|PMID:12402217|PMID:12436243|PMID:12595695|PMID:12611827|PMID:12716966|PMID:12842306|PMID:14966473|PMID:15169701|PMID:15457404|PMID:15457497|PMID:15645182|PMID:15652872|PMID:15821730|PMID:15824744|PMID:15935994|PMID:16043133|PMID:16130008|PMID:16135635|PMID:16275815|PMID:16513880|PMID:16542388|PMID:17504906|PMID:21280081|PMID:25741868|PMID:7304673|PMID:7585135|PMID:8807664|PMID:8886163|PMID:8941353|PMID:9110364 11929653 COMT catechol-O-methyltransferase gene DOID:612 primary immunodeficiency disease ISO RGD:737102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11929653 COMT catechol-O-methyltransferase gene DOID:630 genetic disease ISO RGD:737102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11929653 COMT catechol-O-methyltransferase gene DOID:631 fibromyalgia severity ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.V158M(human) PMID:24762091|REF_RGD_ID:13450944 11929653 COMT catechol-O-methyltransferase gene DOID:670 amphetamine abuse ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274053 11929653 COMT catechol-O-methyltransferase gene DOID:684 hepatocellular carcinoma ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341023 11929653 COMT catechol-O-methyltransferase gene DOID:8893 psoriasis ISO RGD:737102 D RGD:9068941 20200609 RGD PMID:24001377|REF_RGD_ID:8662328 11929653 COMT catechol-O-methyltransferase gene DOID:9000081 Lymphatic Metastasis ISO RGD:737102 D RGD:9068941 20200609 RGD associated with breast cancer;DNA:missense mutation:cds:p.V108/158M (human) PMID:10755383|REF_RGD_ID:8662330 11929653 COMT catechol-O-methyltransferase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:10378 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland, cytoplasm PMID:6337293|REF_RGD_ID:2289734 11929653 COMT catechol-O-methyltransferase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18424824 11929653 COMT catechol-O-methyltransferase gene DOID:9000439 Schizophrenia Spectrum and Other Psychotic Disorders ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28195063 11929653 COMT catechol-O-methyltransferase gene DOID:9000641 Pain ISO RGD:2379 D RGD:9068941 20200609 RGD PMID:17084978|REF_RGD_ID:2289747 11929653 COMT catechol-O-methyltransferase gene DOID:9000641 Pain ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561508 11929653 COMT catechol-O-methyltransferase gene DOID:9000641 Pain severity ISO RGD:737102 D RGD:9068941 20200609 RGD associated with Multiple Sclerosis;DNA:polymorphism:cds:rs4680(p.V158M)(human) PMID:24290452|REF_RGD_ID:13450948 11929653 COMT catechol-O-methyltransferase gene DOID:9000998 Brain Injuries ISO RGD:2379 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:17240060|REF_RGD_ID:2289740 11929653 COMT catechol-O-methyltransferase gene DOID:9002211 Hyperalgesia ISO RGD:10378 D RGD:9068941 20200609 RGD PMID:20726980|REF_RGD_ID:8662326 11929653 COMT catechol-O-methyltransferase gene DOID:9002211 Hyperalgesia ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28195063 11929653 COMT catechol-O-methyltransferase gene DOID:9002231 Fetal Growth Retardation ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23667712 11929653 COMT catechol-O-methyltransferase gene DOID:9002304 Prostatic Neoplasms ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11929653 COMT catechol-O-methyltransferase gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:10378 D RGD:9068941 20200609 RGD PMID:25242632|REF_RGD_ID:13450949 11929653 COMT catechol-O-methyltransferase gene DOID:9003392 Neck Pain severity ISO RGD:737102 D RGD:9068941 20200609 RGD associated with breast cancer;DNA:missense mutation:cds:p.V158M (human) PMID:21898113|REF_RGD_ID:8662332 11929653 COMT catechol-O-methyltransferase gene DOID:9003805 Catalepsy ISO RGD:2379 D RGD:9068941 20200609 RGD PMID:12711835|REF_RGD_ID:2289788 11929653 COMT catechol-O-methyltransferase gene DOID:9003871 Venous Thrombosis ISO RGD:737102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 11929653 COMT catechol-O-methyltransferase gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :324G>A PMID:18064318|REF_RGD_ID:2289709 11929653 COMT catechol-O-methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11929653 COMT catechol-O-methyltransferase gene DOID:9004673 Hearing Loss, Cisplatin-Induced ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19898482 11929653 COMT catechol-O-methyltransferase gene DOID:9005228 Musculoskeletal Pain ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25218601 11929653 COMT catechol-O-methyltransferase gene DOID:9005632 Cocaine-Related Disorders ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18704099 11929653 COMT catechol-O-methyltransferase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2379 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:12010186|REF_RGD_ID:2289789 11929653 COMT catechol-O-methyltransferase gene DOID:9006281 Temporomandibular Joint Disorders ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25218601 11929653 COMT catechol-O-methyltransferase gene DOID:9006617 Fatigue severity ISO RGD:737102 D RGD:9068941 20200609 RGD associated with breast cancer;DNA:missense mutation:cds:p.V158M (human) PMID:21898113|REF_RGD_ID:8662332 11929653 COMT catechol-O-methyltransferase gene DOID:9007370 Child Behavior Disorders susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD associated with Fetal Growth Retardation; DNA:polymorphism:cds:rs4680(p.V158M)(human) PMID:22070166|REF_RGD_ID:13451124 11929653 COMT catechol-O-methyltransferase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2379 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:21138988|REF_RGD_ID:7241599 11929653 COMT catechol-O-methyltransferase gene DOID:9007661 Dwarfism ISO RGD:737102 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11929653 COMT catechol-O-methyltransferase gene DOID:9008023 Memory Disorders ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28195063 11929653 COMT catechol-O-methyltransferase gene DOID:9008359 Acute Pain susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:polymorphism:cds:p.V158M(human) PMID:25102390|REF_RGD_ID:13450943 11929653 COMT catechol-O-methyltransferase gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:2379 D RGD:9068941 20200609 RGD PMID:16437585|REF_RGD_ID:2289781 11929653 COMT catechol-O-methyltransferase gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:737102 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11929653 COMT catechol-O-methyltransferase gene DOID:9008939 Breast Neoplasms ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15455371|PMID:16077979|PMID:9407957 11929653 COMT catechol-O-methyltransferase gene DOID:9009066 Glucocorticoid Deficiency 5 ISO RGD:737102 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glucocorticoid deficiency 5 PMID:25741868|PMID:28492532 11929653 COMT catechol-O-methyltransferase gene DOID:9970 obesity susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism:exon PMID:17497175|REF_RGD_ID:2289713 11929681 HERC4 HECT and RLD domain containing E3 ubiquitin protein ligase 4 gene DOID:630 genetic disease ISO RGD:1322175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11929721 ZHX1 zinc fingers and homeoboxes 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1346071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11929721 ZHX1 zinc fingers and homeoboxes 1 gene DOID:630 genetic disease ISO RGD:1346071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11929731 MAP4K2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1317839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11929731 MAP4K2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:1059 intellectual disability ISO RGD:1317839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11929731 MAP4K2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1317839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11929731 MAP4K2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:2746 glycogen storage disease V ISO RGD:1317839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11929731 MAP4K2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:3070 high grade glioma ISO RGD:1317839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11929731 MAP4K2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:630 genetic disease ISO RGD:1317839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11929777 QPCTL glutaminyl-peptide cyclotransferase like gene DOID:630 genetic disease ISO RGD:1350934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11929786 PISD phosphatidylserine decarboxylase gene DOID:630 genetic disease ISO RGD:1352965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11929786 PISD phosphatidylserine decarboxylase gene DOID:9000377 Liberfarb Syndrome ISO RGD:1352965 D RGD:7240710 20200708 OMIM 11929786 PISD phosphatidylserine decarboxylase gene DOID:9000377 Liberfarb Syndrome ISO RGD:1352965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Liberfarb syndrome | ClinVar Annotator: match by term: PISD-related mitochondrial disease PMID:25741868|PMID:28492532|PMID:30488656|PMID:30858161|PMID:31263216|PMID:3561949 11929786 PISD phosphatidylserine decarboxylase gene DOID:9007491 Childhood Schizophrenia ISO RGD:1352965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 11929851 HDGFL3 HDGF like 3 gene DOID:630 genetic disease ISO RGD:1606795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11929859 ARHGAP10 Rho GTPase activating protein 10 gene DOID:0060224 atrial fibrillation ISO RGD:1322908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11929859 ARHGAP10 Rho GTPase activating protein 10 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1322908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 11929859 ARHGAP10 Rho GTPase activating protein 10 gene DOID:630 genetic disease ISO RGD:1322908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11929859 ARHGAP10 Rho GTPase activating protein 10 gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:1322908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy 11929893 TCEA1 transcription elongation factor A1 gene DOID:630 genetic disease ISO RGD:1320461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11929908 IL1R2 interleukin 1 receptor type 2 gene DOID:0050686 organ system cancer ISO RGD:1352690 D RGD:9068941 20220715 RGD DNA:SNP:CDS:rs4141134 (human) PMID:25158664|REF_RGD_ID:152998994 11929908 IL1R2 interleukin 1 receptor type 2 gene DOID:1205 allergic disease ISO RGD:1352690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11929908 IL1R2 interleukin 1 receptor type 2 gene DOID:1324 lung cancer susceptibility ISO RGD:1352690 D RGD:9068941 20220714 RGD DNA:SNP:CDS:multiple (human) PMID:30895747|REF_RGD_ID:152998976 11929908 IL1R2 interleukin 1 receptor type 2 gene DOID:1474 aggressive periodontitis ISO RGD:1352690 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: :rs3819370, rs3218974,rs3218977(human) PMID:24818754|REF_RGD_ID:8662885 11929908 IL1R2 interleukin 1 receptor type 2 gene DOID:1474 aggressive periodontitis ISO RGD:1352690 D RGD:9068941 20200609 RGD associated with Periodontitis; PMID:18315432|REF_RGD_ID:8662884 11929908 IL1R2 interleukin 1 receptor type 2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1352690 D RGD:9068941 20220714 RGD mRNA:altered expression:lung (human) PMID:31921619|REF_RGD_ID:152998982 11929908 IL1R2 interleukin 1 receptor type 2 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1352690 D RGD:9068941 20220715 RGD mRNA:increased expression:lung (human) PMID:29942094|REF_RGD_ID:152998998 11929908 IL1R2 interleukin 1 receptor type 2 gene DOID:409 liver disease ISO RGD:1352690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11929908 IL1R2 interleukin 1 receptor type 2 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1352690 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 11929908 IL1R2 interleukin 1 receptor type 2 gene DOID:5041 esophageal cancer susceptibility ISO RGD:1352690 D RGD:9068941 20220714 RGD DNA:SNP:cds:rs11674595|rs2072472 (human) PMID:31744444|REF_RGD_ID:152998961 11929908 IL1R2 interleukin 1 receptor type 2 gene DOID:552 pneumonia ISO RGD:1352690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11929908 IL1R2 interleukin 1 receptor type 2 gene DOID:552 pneumonia ISO RGD:1352690 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11929908 IL1R2 interleukin 1 receptor type 2 gene DOID:630 genetic disease ISO RGD:1352690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11929908 IL1R2 interleukin 1 receptor type 2 gene DOID:7147 ankylosing spondylitis ISO RGD:1352690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062062 11929908 IL1R2 interleukin 1 receptor type 2 gene DOID:8577 ulcerative colitis ISO RGD:1352690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297633 11929908 IL1R2 interleukin 1 receptor type 2 gene DOID:9000307 Presbycusis ISO RGD:731689 D RGD:9068941 20200609 RGD PMID:22652460|REF_RGD_ID:8662870 11929908 IL1R2 interleukin 1 receptor type 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1352690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 11929908 IL1R2 interleukin 1 receptor type 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17984051 11929930 IL1R1 interleukin 1 receptor type 1 gene DOID:0080600 COVID-19 ISO RGD:735430 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11929930 IL1R1 interleukin 1 receptor type 1 gene DOID:0080600 COVID-19 ISO RGD:735430 D RGD:9068941 20200618 RGD protein:increased expression:serum: PMID:32416070|REF_RGD_ID:30296676 11929930 IL1R1 interleukin 1 receptor type 1 gene DOID:0080600 COVID-19 ISO RGD:735430 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 11929930 IL1R1 interleukin 1 receptor type 1 gene DOID:0080600 COVID-19 severity ISO RGD:735430 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|PMID:32360286|REF_RGD_ID:30309209|REF_RGD_ID:30309212 11929930 IL1R1 interleukin 1 receptor type 1 gene DOID:0080685 aortic dissection ISO RGD:735430 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ascending aortic dissection PMID:34409081 11929930 IL1R1 interleukin 1 receptor type 1 gene DOID:10964 cholesteatoma of middle ear ISO RGD:735430 D RGD:9068941 20200609 RGD protein:decreased expression:skin PMID:8737779|REF_RGD_ID:8662931 11929930 IL1R1 interleukin 1 receptor type 1 gene DOID:11121 pulpitis ISO RGD:2892 D RGD:9068941 20200609 RGD protein:increased expression:dental pulp,trigeminal ganglion: PMID:19732182|REF_RGD_ID:8662895 11929930 IL1R1 interleukin 1 receptor type 1 gene DOID:1205 allergic disease ISO RGD:735430 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11929930 IL1R1 interleukin 1 receptor type 1 gene DOID:289 endometriosis ISO RGD:735430 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642|PMID:21063030 11929930 IL1R1 interleukin 1 receptor type 1 gene DOID:2921 glomerulonephritis ISO RGD:735431 D RGD:9068941 20200609 RGD PMID:17500042|REF_RGD_ID:7207036 11929930 IL1R1 interleukin 1 receptor type 1 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:735430 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 11929930 IL1R1 interleukin 1 receptor type 1 gene DOID:37 skin disease ISO RGD:735430 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 11929930 IL1R1 interleukin 1 receptor type 1 gene DOID:418 systemic scleroderma ISO RGD:735430 D RGD:9068941 20200609 RGD PMID:1375465|REF_RGD_ID:8662902 11929930 IL1R1 interleukin 1 receptor type 1 gene DOID:552 pneumonia ISO RGD:735430 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11929930 IL1R1 interleukin 1 receptor type 1 gene DOID:630 genetic disease ISO RGD:735430 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11929930 IL1R1 interleukin 1 receptor type 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2892 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal cord PMID:16456668|REF_RGD_ID:7207035 11929930 IL1R1 interleukin 1 receptor type 1 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:735431 D RGD:9068941 20200609 RGD PMID:17901159|REF_RGD_ID:2311107 11929930 IL1R1 interleukin 1 receptor type 1 gene DOID:9000998 Brain Injuries ISO RGD:735430 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 11929930 IL1R1 interleukin 1 receptor type 1 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:2892 D RGD:9068941 20200609 RGD mRNA:increased expression:hypoglossal nerve PMID:11311987|REF_RGD_ID:5037239 11929930 IL1R1 interleukin 1 receptor type 1 gene DOID:9002211 Hyperalgesia ISO RGD:2892 D RGD:9068941 20200609 RGD PMID:19022353|REF_RGD_ID:8662898 11929930 IL1R1 interleukin 1 receptor type 1 gene DOID:9002211 Hyperalgesia ISO RGD:735431 D RGD:9068941 20200609 RGD PMID:11585580|REF_RGD_ID:8662903 11929930 IL1R1 interleukin 1 receptor type 1 gene DOID:9003321 Bacterial Keratitis ISO RGD:735431 D RGD:9068941 20200609 RGD associated with Serratia Infections; PMID:23033384|REF_RGD_ID:8662876 11929930 IL1R1 interleukin 1 receptor type 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:735430 D RGD:9068941 20200609 RGD PMID:18637763|REF_RGD_ID:5037238 11929930 IL1R1 interleukin 1 receptor type 1 gene DOID:9003730 Chemical Burns ISO RGD:735430 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 11929930 IL1R1 interleukin 1 receptor type 1 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:735431 D RGD:9068941 20200609 RGD PMID:16797208|REF_RGD_ID:5037237 11929930 IL1R1 interleukin 1 receptor type 1 gene DOID:9007599 Ocular Onchocerciasis ISO RGD:735431 D RGD:9068941 20200609 RGD PMID:19168746|REF_RGD_ID:8662882 11929930 IL1R1 interleukin 1 receptor type 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735430 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:11197691|REF_RGD_ID:2311106 11929930 IL1R1 interleukin 1 receptor type 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735430 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:8911996|REF_RGD_ID:6892703 11929930 IL1R1 interleukin 1 receptor type 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735431 D RGD:9068941 20200609 RGD protein:decreased expression:pancreatic islet PMID:7835294|REF_RGD_ID:2311068 11929930 IL1R1 interleukin 1 receptor type 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735431 D RGD:9068941 20220825 MouseDO OMIM:222100 11929952 ASXL1 ASXL transcriptional regulator 1 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1344611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:25741868|PMID:32581362 11929952 ASXL1 ASXL transcriptional regulator 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1344611 D RGD:7240710 20180130 OMIM 11929952 ASXL1 ASXL transcriptional regulator 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1344611 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myelodysplasia | ClinVar Annotator: match by term: Myelodysplastic syndrome PMID:20880116|PMID:21576631|PMID:21706002|PMID:21881046|PMID:22031865|PMID:22058207|PMID:22237106|PMID:22489043|PMID:23018865|PMID:23619563|PMID:23690417|PMID:24255920|PMID:24442206|PMID:24458439|PMID:24496303|PMID:24695057|PMID:25596267|PMID:25652455|PMID:25741868|PMID:27069254|PMID:27276561|PMID:27895058 11929952 ASXL1 ASXL transcriptional regulator 1 gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:1344611 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:21576631|REF_RGD_ID:11038707 11929952 ASXL1 ASXL transcriptional regulator 1 gene DOID:0050908 myelodysplastic syndrome treatment ISO RGD:1344611 D RGD:9068941 20200609 RGD PMID:24045501|REF_RGD_ID:11038769 11929952 ASXL1 ASXL transcriptional regulator 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1344611 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30504930 11929952 ASXL1 ASXL transcriptional regulator 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1344611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 11929952 ASXL1 ASXL transcriptional regulator 1 gene DOID:0080188 chronic myelomonocytic leukemia disease_progression ISO RGD:1344611 D RGD:9068941 20200609 RGD DNA:mutations:exon: PMID:20880116|REF_RGD_ID:11038767 11929952 ASXL1 ASXL transcriptional regulator 1 gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1344611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency PMID:28492532 11929952 ASXL1 ASXL transcriptional regulator 1 gene DOID:1059 intellectual disability ISO RGD:1344611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24728327|PMID:25741868|PMID:28492532 11929952 ASXL1 ASXL transcriptional regulator 1 gene DOID:10907 microcephaly ISO RGD:1344611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11929952 ASXL1 ASXL transcriptional regulator 1 gene DOID:1826 epilepsy ISO RGD:1344611 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 11929952 ASXL1 ASXL transcriptional regulator 1 gene DOID:2154 nephroblastoma ISO RGD:1344611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 11929952 ASXL1 ASXL transcriptional regulator 1 gene DOID:2226 myeloproliferative neoplasm ISO RGD:1557697 D RGD:9068941 20220825 MouseDO 11929952 ASXL1 ASXL transcriptional regulator 1 gene DOID:420 hypertrichosis ISO RGD:1344611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrichosis PMID:21706002|PMID:25741868 11929952 ASXL1 ASXL transcriptional regulator 1 gene DOID:4797 SM-AHNMD disease_progression ISO RGD:1344611 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:24465546|REF_RGD_ID:11038711 11929952 ASXL1 ASXL transcriptional regulator 1 gene DOID:4971 myelofibrosis ISO RGD:1344611 D RGD:9068941 20200609 RGD DNA:mutation,deletion:exon:2475dupA, 2846_2847del (human) PMID:21712540|REF_RGD_ID:11038705 11929952 ASXL1 ASXL transcriptional regulator 1 gene DOID:4971 myelofibrosis disease_progression ISO RGD:1344611 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:23619563|REF_RGD_ID:11038768 11929952 ASXL1 ASXL transcriptional regulator 1 gene DOID:630 genetic disease ISO RGD:1344611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16412590|PMID:21706002|PMID:25131622|PMID:25741868|PMID:25921057|PMID:26364555|PMID:28229513|PMID:28492532|PMID:30806792|PMID:31969346 11929952 ASXL1 ASXL transcriptional regulator 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1344611 D RGD:9068941 20210409 RGD associated with colorectal cancer PMID:32317519|REF_RGD_ID:126779580 11929952 ASXL1 ASXL transcriptional regulator 1 gene DOID:9001582 Bohring Syndrome ISO RGD:1344611 D RGD:7240710 20180130 OMIM 11929952 ASXL1 ASXL transcriptional regulator 1 gene DOID:9001582 Bohring Syndrome ISO RGD:1344611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bohring-Opitz syndrome PMID:16412590|PMID:18414213|PMID:20880116|PMID:21576631|PMID:21706002|PMID:21881046|PMID:22031865|PMID:22058207|PMID:22419483|PMID:22489043|PMID:23018865|PMID:23619563|PMID:23690417|PMID:24033266|PMID:24255920|PMID:24442206|PMID:24458439|PMID:24496303|PMID:24695057|PMID:24728327|PMID:25131622|PMID:25326635|PMID:25596267|PMID:25652455|PMID:25741868|PMID:25921057|PMID:26364555|PMID:26467025|PMID:26633542|PMID:27069254|PMID:27276561|PMID:27895058|PMID:28492532|PMID:29681105|PMID:30147881|PMID:30158690|PMID:31692235|PMID:31969346|PMID:32581362 11929952 ASXL1 ASXL transcriptional regulator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 11929952 ASXL1 ASXL transcriptional regulator 1 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1344611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 11929952 ASXL1 ASXL transcriptional regulator 1 gene DOID:9005985 Rubinstein Taybi like Syndrome ISO RGD:1344611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rubinstein Taybi like syndrome PMID:16412590|PMID:30806792 11929952 ASXL1 ASXL transcriptional regulator 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1344611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay PMID:21706002|PMID:25741868|PMID:28492532 11929952 ASXL1 ASXL transcriptional regulator 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1557697 D RGD:9068941 20220825 MouseDO OMIM:601626 11929952 ASXL1 ASXL transcriptional regulator 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1344611 D RGD:9068941 20200609 RGD DNA:mutations:exon: PMID:20693432|REF_RGD_ID:11038706 11929971 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1353529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11929971 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1353529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11929971 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:5419 schizophrenia ISO RGD:1353529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11929971 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:630 genetic disease ISO RGD:1353529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11929971 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1353529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11929971 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1353529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11929971 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:9006549 Enterovirus Infections ISO RGD:1353529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28446605 11929971 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:9007661 Dwarfism ISO RGD:1353529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11929993 OPRK1 opioid receptor kappa 1 gene DOID:0060001 withdrawal disorder ISO RGD:69478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20232057|PMID:9463367 11929993 OPRK1 opioid receptor kappa 1 gene DOID:0060001 withdrawal disorder treatment ISO RGD:69426 D RGD:9068941 20200609 RGD PMID:22515275|REF_RGD_ID:9834942 11929993 OPRK1 opioid receptor kappa 1 gene DOID:5419 schizophrenia ISO RGD:69478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11929993 OPRK1 opioid receptor kappa 1 gene DOID:5844 myocardial infarction ISO RGD:69426 D RGD:9068941 20200609 RGD PMID:15076225|REF_RGD_ID:9831425 11929993 OPRK1 opioid receptor kappa 1 gene DOID:630 genetic disease ISO RGD:69478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11929993 OPRK1 opioid receptor kappa 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:69426 D RGD:9068941 20200609 RGD PMID:15076225|REF_RGD_ID:9831425 11929993 OPRK1 opioid receptor kappa 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:69478 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16995444 11929993 OPRK1 opioid receptor kappa 1 gene DOID:9000641 Pain ISO RGD:69478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9463367 11929993 OPRK1 opioid receptor kappa 1 gene DOID:9002211 Hyperalgesia treatment ISO RGD:69426 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; PMID:16924480|REF_RGD_ID:9834947 11929993 OPRK1 opioid receptor kappa 1 gene DOID:9002916 Hyperphagia ISO RGD:69426 D RGD:9068941 20200609 RGD PMID:9808678|REF_RGD_ID:9831410 11929993 OPRK1 opioid receptor kappa 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:69478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18575850|PMID:20232055 11929993 OPRK1 opioid receptor kappa 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69426 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve, peroneal nerve: PMID:16924480|REF_RGD_ID:9834947 11929993 OPRK1 opioid receptor kappa 1 gene DOID:9976 heroin dependence ISO RGD:69426 D RGD:9068941 20200609 RGD PMID:24725195|REF_RGD_ID:9831447 11930011 ENTR1 endosome associated trafficking regulator 1 gene DOID:0050777 Joubert syndrome ISO RGD:1314253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11930011 ENTR1 endosome associated trafficking regulator 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1314253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11930011 ENTR1 endosome associated trafficking regulator 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1314253 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11930011 ENTR1 endosome associated trafficking regulator 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1314253 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11930011 ENTR1 endosome associated trafficking regulator 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1314253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11930011 ENTR1 endosome associated trafficking regulator 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1314253 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11930011 ENTR1 endosome associated trafficking regulator 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1314253 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11930011 ENTR1 endosome associated trafficking regulator 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1314253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11930011 ENTR1 endosome associated trafficking regulator 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1314253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 11930011 ENTR1 endosome associated trafficking regulator 1 gene DOID:3652 Leigh disease ISO RGD:1314253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11930011 ENTR1 endosome associated trafficking regulator 1 gene DOID:630 genetic disease ISO RGD:1314253 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11930011 ENTR1 endosome associated trafficking regulator 1 gene DOID:9005249 Immunodeficiency 103 ISO RGD:1314253 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS PMID:28492532 11930011 ENTR1 endosome associated trafficking regulator 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1314253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 11930029 KCNMB1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:10763 hypertension ISO RGD:2961 D RGD:9068941 20200609 RGD PMID:14551242|REF_RGD_ID:1298970 11930029 KCNMB1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:10763 hypertension ISO RGD:2961 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta, mesenteric artery PMID:16814121|REF_RGD_ID:10412046 11930029 KCNMB1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:10763 hypertension ISO RGD:733456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17700361 11930029 KCNMB1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:10763 hypertension ISO RGD:733456 D RGD:9068941 20200609 RGD PMID:16293791|REF_RGD_ID:1581718 11930029 KCNMB1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:630 genetic disease ISO RGD:733456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11930029 KCNMB1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:9004657 Weight Gain ISO RGD:733456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27288421 11930029 KCNMB1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2961 D RGD:9068941 20200609 RGD protein:decreased expression:aorta, smooth muscle PMID:24589593|REF_RGD_ID:10412030 11930029 KCNMB1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:9007102 Myocardial Ischemia no_association ISO RGD:733456 D RGD:9068941 20200609 RGD PMID:16155733|REF_RGD_ID:1581719 11930029 KCNMB1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:9007692 Insulin Resistance ISO RGD:2961 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:aorta, mesenteric artery PMID:21425425|REF_RGD_ID:10412047 11930029 KCNMB1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:9008282 Diastolic Hypertension, Resistance to ISO RGD:733456 D RGD:7240710 20180130 OMIM 11930029 KCNMB1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:9008282 Diastolic Hypertension, Resistance to ISO RGD:733456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertension, diastolic, resistance to PMID:15057310|PMID:16155733 11930029 KCNMB1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2961 D RGD:9068941 20200609 RGD protein:decreased expression:aorta PMID:18790848|REF_RGD_ID:10412045 11930037 CACNG7 calcium voltage-gated channel auxiliary subunit gamma 7 gene DOID:1059 intellectual disability ISO RGD:732586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 11930037 CACNG7 calcium voltage-gated channel auxiliary subunit gamma 7 gene DOID:630 genetic disease ISO RGD:732586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11930046 SSB small RNA binding exonuclease protection factor La gene DOID:0080600 COVID-19 ISO RGD:1348902 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11930046 SSB small RNA binding exonuclease protection factor La gene DOID:630 genetic disease ISO RGD:1348902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11930062 PRELID3B PRELI domain containing 3B gene DOID:630 genetic disease ISO RGD:1345443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11930072 PRPF31 pre-mRNA processing factor 31 gene DOID:0110408 retinitis pigmentosa 11 ISO RGD:1314103 D RGD:7240710 20180130 OMIM 11930072 PRPF31 pre-mRNA processing factor 31 gene DOID:0110408 retinitis pigmentosa 11 ISO RGD:1314103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 11 PMID:11545739|PMID:12923864|PMID:16199547|PMID:16708387|PMID:16799052|PMID:17325180|PMID:17412961|PMID:17576681|PMID:18317597|PMID:19293337|PMID:19618371|PMID:20861475|PMID:23288994|PMID:23950152|PMID:25356976|PMID:25525159|PMID:25741868|PMID:26781568|PMID:26872967|PMID:28192796|PMID:28492532|PMID:29847639|PMID:29957067|PMID:30582903|PMID:31047384|PMID:31054281|PMID:31690835|PMID:31892304|PMID:32014492|PMID:32037395|PMID:33085829|PMID:33090715|PMID:33946315|PMID:5764686|PMID:8004108|PMID:8025041|PMID:8808602|PMID:9345108|PMID:9536098 11930072 PRPF31 pre-mRNA processing factor 31 gene DOID:10584 retinitis pigmentosa ISO RGD:1314103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16799052|PMID:18317597|PMID:19506198|PMID:23288994|PMID:23950152|PMID:25741868|PMID:28041643|PMID:28166811|PMID:28492532|PMID:29847639|PMID:30337596|PMID:30582903|PMID:30718709|PMID:30921587|PMID:33095315 11930072 PRPF31 pre-mRNA processing factor 31 gene DOID:10584 retinitis pigmentosa ISO RGD:1314103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:16799052|PMID:18317597|PMID:19506198|PMID:23288994|PMID:23950152|PMID:25324289|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28512305|PMID:29260190|PMID:29847639|PMID:30337596|PMID:30582903|PMID:3071870|PMID:30718709|PMID:30921587|PMID:33090715|PMID:33095315 11930072 PRPF31 pre-mRNA processing factor 31 gene DOID:14791 Leber congenital amaurosis ISO RGD:1314103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:30718709 11930072 PRPF31 pre-mRNA processing factor 31 gene DOID:630 genetic disease ISO RGD:1314103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11930072 PRPF31 pre-mRNA processing factor 31 gene DOID:8501 fundus dystrophy ISO RGD:1314103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11545739|PMID:16199547|PMID:16799052|PMID:16917484|PMID:17325180|PMID:17576681|PMID:18317597|PMID:20861475|PMID:23288994|PMID:23343310|PMID:23950152|PMID:24265693|PMID:24664689|PMID:25356976|PMID:25525159|PMID:25741868|PMID:26872967|PMID:27208204|PMID:28041643|PMID:28492532|PMID:29847639|PMID:29957067|PMID:30543658|PMID:30582903|PMID:30718709|PMID:31047384|PMID:31054281|PMID:31892304|PMID:32014492|PMID:32037395|PMID:33090715|PMID:33851411|PMID:33946315|PMID:8808602|PMID:9536098 11930097 RBFOX2 RNA binding fox-1 homolog 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1323505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11930097 RBFOX2 RNA binding fox-1 homolog 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1323505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11930097 RBFOX2 RNA binding fox-1 homolog 2 gene DOID:630 genetic disease ISO RGD:1323505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11930097 RBFOX2 RNA binding fox-1 homolog 2 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1323505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11930097 RBFOX2 RNA binding fox-1 homolog 2 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1323505 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome PMID:25741868|PMID:26785492|PMID:27485310|PMID:27670201|PMID:32368696|PMID:35137168 11930161 RPP30 ribonuclease P/MRP subunit p30 gene DOID:630 genetic disease ISO RGD:1321878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11930182 FUNDC1 FUN14 domain containing 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11930182 FUNDC1 FUN14 domain containing 1 gene DOID:0080006 bone development disease ISO RGD:1351437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 11930182 FUNDC1 FUN14 domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1351437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11930182 FUNDC1 FUN14 domain containing 1 gene DOID:630 genetic disease ISO RGD:1351437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11930182 FUNDC1 FUN14 domain containing 1 gene DOID:9002669 Hypoxia ISO RGD:1557033 D RGD:9068941 20200609 RGD protein:decreased expression:brain (mouse) PMID:22267086|REF_RGD_ID:12738373 11930182 FUNDC1 FUN14 domain containing 1 gene DOID:9002669 Hypoxia severity ISO RGD:1557033 D RGD:9068941 20200609 RGD PMID:27995894|REF_RGD_ID:12738374 11930182 FUNDC1 FUN14 domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11930182 FUNDC1 FUN14 domain containing 1 gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1351437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:22197486|PMID:23076834|PMID:23354975|PMID:23913813|PMID:25972376|PMID:28492532 11930191 SNX10 sorting nexin 10 gene DOID:0080600 COVID-19 ISO RGD:1314019 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11930191 SNX10 sorting nexin 10 gene DOID:0110940 autosomal recessive osteopetrosis 8 ISO RGD:1314019 D RGD:7240710 20180130 OMIM 11930191 SNX10 sorting nexin 10 gene DOID:0110940 autosomal recessive osteopetrosis 8 ISO RGD:1314019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 8 PMID:22499339|PMID:23123320|PMID:23280965|PMID:25212774|PMID:25741868|PMID:25811986|PMID:28492532 11930191 SNX10 sorting nexin 10 gene DOID:13533 osteopetrosis ISO RGD:1314019 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Infantile osteopetrosis PMID:25741868 11930191 SNX10 sorting nexin 10 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11930191 SNX10 sorting nexin 10 gene DOID:630 genetic disease ISO RGD:1314019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11930191 SNX10 sorting nexin 10 gene DOID:9007188 Liver Neoplasms ISO RGD:1314019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 11930202 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1347474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF PMID:25741868|PMID:25772934 11930202 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11930202 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1347474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 11930202 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0080198 infantile histiocytoid cardiomyopathy ISO RGD:1347474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Foamy myocardial transformation of infancy PMID:25741868|PMID:25772934 11930202 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1347474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11930202 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1347474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11930202 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0111808 linear skin defects with multiple congenital anomalies 1 ISO RGD:1347474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1 PMID:25741868|PMID:25772934 11930202 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0111875 MLS syndrome ISO RGD:1347474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MLS syndrome PMID:25741868|PMID:25772934 11930202 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0111876 linear skin defects with multiple congenital anomalies 3 ISO RGD:1347474 D RGD:7240710 20180130 OMIM 11930202 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0111876 linear skin defects with multiple congenital anomalies 3 ISO RGD:1347474 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: LINEAR SKIN DEFECTS WITH CARDIOMYOPATHY AND OTHER CONGENITAL ANOMALIES | ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 3 PMID:25741868|PMID:25772934|PMID:26741492|PMID:27488349|PMID:28050600|PMID:30423443|PMID:31243186 11930202 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1347474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:25772934 11930202 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0112098 nuclear type mitochondrial complex I deficiency 30 ISO RGD:1347474 D RGD:7240710 20190315 OMIM 11930202 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0112098 nuclear type mitochondrial complex I deficiency 30 ISO RGD:1347474 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30 PMID:25741868|PMID:25772934|PMID:26741492|PMID:27488349|PMID:28050600|PMID:30423443|PMID:31243186 11930202 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1347474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 11930202 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1347474 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 11930202 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:12849 autistic disorder ISO RGD:1347474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11930202 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:630 genetic disease ISO RGD:1347474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11930202 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11930211 ANKRD26 ankyrin repeat domain containing 26 gene DOID:1588 thrombocytopenia ISO RGD:1314711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10521306|PMID:20626622|PMID:21211618|PMID:21467542|PMID:23677566|PMID:24430186|PMID:25539746|PMID:25741868|PMID:25902755|PMID:26175287|PMID:26884589|PMID:28109976|PMID:28277066|PMID:28492532|PMID:28669401|PMID:30747248|PMID:31064749|PMID:32351539|PMID:32581362|PMID:32659145|PMID:34355501 11930211 ANKRD26 ankyrin repeat domain containing 26 gene DOID:2213 hemorrhagic disease ISO RGD:1314711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532 11930211 ANKRD26 ankyrin repeat domain containing 26 gene DOID:2218 blood platelet disease ISO RGD:1314711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Platelet disorder PMID:23677566|PMID:25741868|PMID:31064749 11930211 ANKRD26 ankyrin repeat domain containing 26 gene DOID:630 genetic disease ISO RGD:1314711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11930211 ANKRD26 ankyrin repeat domain containing 26 gene DOID:9003390 Thrombocytopenia 2 ISO RGD:1314711 D RGD:7240710 20180130 OMIM 11930211 ANKRD26 ankyrin repeat domain containing 26 gene DOID:9003390 Thrombocytopenia 2 ISO RGD:1314711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 2 PMID:10521306|PMID:17666371|PMID:20626622|PMID:21211618|PMID:23677566|PMID:24430186|PMID:25539746|PMID:25741868|PMID:25902755|PMID:26175287|PMID:26884589|PMID:28100250|PMID:28277066|PMID:28492532|PMID:29185836|PMID:29545013|PMID:30747248|PMID:31064749|PMID:32581362|PMID:32659145|PMID:34355501 11930211 ANKRD26 ankyrin repeat domain containing 26 gene DOID:9006084 Gigantism ISO RGD:1558016 D RGD:9068941 20200609 RGD PMID:18162531|REF_RGD_ID:9681744 11930211 ANKRD26 ankyrin repeat domain containing 26 gene DOID:9007692 Insulin Resistance ISO RGD:1558016 D RGD:9068941 20200609 RGD PMID:18162531|REF_RGD_ID:9681744 11930211 ANKRD26 ankyrin repeat domain containing 26 gene DOID:9970 obesity ISO RGD:1558016 D RGD:9068941 20200609 RGD PMID:18162531|REF_RGD_ID:9681744 11930211 ANKRD26 ankyrin repeat domain containing 26 gene DOID:9970 obesity ISO RGD:1558016 D RGD:9068941 20220825 MouseDO OMIM:601665 11930249 ASAH2 N-acylsphingosine amidohydrolase 2 gene DOID:10608 celiac disease ISO RGD:1605058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 11930249 ASAH2 N-acylsphingosine amidohydrolase 2 gene DOID:11372 megacolon ISO RGD:1605058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11930249 ASAH2 N-acylsphingosine amidohydrolase 2 gene DOID:409 liver disease ISO RGD:1605058 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15946935 11930249 ASAH2 N-acylsphingosine amidohydrolase 2 gene DOID:630 genetic disease ISO RGD:1605058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11930270 NSG2 neuronal vesicle trafficking associated 2 gene DOID:630 genetic disease ISO RGD:1602121 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11930289 TIGIT T cell immunoreceptor with Ig and ITIM domains gene DOID:630 genetic disease ISO RGD:1606681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11930300 CHEK2 checkpoint kinase 2 gene DOID:0050671 female breast cancer susceptibility ISO RGD:732861 D RGD:9068941 20220609 RGD DNA:missense mutation:cds: (human) PMID:30303537|REF_RGD_ID:152995259 11930300 CHEK2 checkpoint kinase 2 gene DOID:0050922 gastrointestinal carcinoma ISO RGD:732861 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Gastrointestinal carcinoma PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11571648|PMID:11719428|PMID:11901158|PMID:12049740|PMID:12533788|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15239132|PMID:15492928|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16574953|PMID:16816021|PMID:16835864|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18281249|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19782031|PMID:19876921|PMID:20223004|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21876083|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:23296741|PMID:23713947|PMID:24506336|PMID:24599715|PMID:24713400|PMID:24728327|PMID:24880342|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26467025|PMID:26681312|PMID:26687385|PMID:26845104|PMID:27153395|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27782108|PMID:27783279|PMID:27878467|PMID:28492532|PMID:29978187|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31409080|PMID:31844177|PMID:32243226|PMID:32255556|PMID:33670479|PMID:33986034 11930300 CHEK2 checkpoint kinase 2 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:732861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26506619 11930300 CHEK2 checkpoint kinase 2 gene DOID:0060180 colitis ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colitis PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12094328|PMID:12533788|PMID:12690581|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15466005|PMID:15492928|PMID:15520402|PMID:16257342|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24723567|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32805687 11930300 CHEK2 checkpoint kinase 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732861 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 11930300 CHEK2 checkpoint kinase 2 gene DOID:0080412 familial adenomatous polyposis 4 ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 4 PMID:24356096|PMID:25318351|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28577310|PMID:30851065|PMID:31206626|PMID:33471991 11930300 CHEK2 checkpoint kinase 2 gene DOID:0080764 hereditary diffuse gastric cancer ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary diffuse gastric cancer PMID:24728327|PMID:25741868|PMID:28492532|PMID:30344923|PMID:32658311|PMID:33471991 11930300 CHEK2 checkpoint kinase 2 gene DOID:0111252 neurofibromatosis 2 ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 11930300 CHEK2 checkpoint kinase 2 gene DOID:0111503 Li-Fraumeni syndrome 1 ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 PMID:25741868|PMID:26467025|PMID:28492532 11930300 CHEK2 checkpoint kinase 2 gene DOID:0111504 Li-Fraumeni syndrome 2 ISO RGD:732861 D RGD:7240710 20230517 OMIM 11930300 CHEK2 checkpoint kinase 2 gene DOID:0111504 Li-Fraumeni syndrome 2 ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Li-Fraumeni syndrome 2 PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28082821|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29335925|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29684080|PMID:29752822|PMID:29758562|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30980208|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571 11930300 CHEK2 checkpoint kinase 2 gene DOID:0111504 Li-Fraumeni syndrome 2 ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Li-Fraumeni syndrome 2 PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31512090|PMID:31614935|PMID:31650100|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32068069|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32885271|PMID:32900738|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33050356|PMID:33077847|PMID:33134171|PMID:33158149|PMID:33257031|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34404389|PMID:34433815|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35220195|PMID:35264596|PMID:35643632|PMID:36136322|PMID:36988593|PMID:9536098 11930300 CHEK2 checkpoint kinase 2 gene DOID:10283 prostate cancer ISO RGD:732861 D RGD:7240710 20230517 OMIM 11930300 CHEK2 checkpoint kinase 2 gene DOID:10283 prostate cancer ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer | ClinVar Annotator: match by term: Prostate cancer, susceptibility to PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29335925|PMID:29351919|PMID:29356917|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29700698|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30264118|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30613976|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30826992|PMID:30851065|PMID:30927251|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31512090|PMID:31614935|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32183364|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32805687|PMID:32830346 11930300 CHEK2 checkpoint kinase 2 gene DOID:10283 prostate cancer ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer | ClinVar Annotator: match by term: Prostate cancer, susceptibility to PMID:32832836|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33077847|PMID:33134171|PMID:33158149|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34072659|PMID:34299313|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35264596|PMID:36988593 11930300 CHEK2 checkpoint kinase 2 gene DOID:10283 prostate cancer susceptibility ISO RGD:732861 D RGD:9068941 20230518 RGD DNA:mutations: :multiple PMID:17085682|REF_RGD_ID:2289707 11930300 CHEK2 checkpoint kinase 2 gene DOID:10534 stomach cancer ISO RGD:732861 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11571648|PMID:11719428|PMID:11901158|PMID:12049740|PMID:12610780|PMID:12909615|PMID:15239132|PMID:15535844|PMID:16199547|PMID:16982735|PMID:17721994|PMID:18004398|PMID:18725978|PMID:21244692|PMID:21876083|PMID:22114986|PMID:22419737|PMID:23334666|PMID:24506336|PMID:24549055|PMID:24713400|PMID:24728327|PMID:24879340|PMID:25186627|PMID:25318351|PMID:25503501|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27067391|PMID:27708748|PMID:27751358|PMID:28492532|PMID:28724667|PMID:28779002|PMID:28783718|PMID:28888541|PMID:28944238|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29356917|PMID:29470806|PMID:29479983|PMID:29520813|PMID:29684080|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29922827|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30680046|PMID:30851065|PMID:30967556|PMID:31056428|PMID:31214711|PMID:31263054|PMID:31360903|PMID:31497750|PMID:31650100|PMID:32029870|PMID:32091409|PMID:32295079|PMID:32427313|PMID:32658311|PMID:32761968|PMID:32906215|PMID:32923877|PMID:33471991|PMID:33558524|PMID:33789101|PMID:34299313|PMID:35643632|PMID:36988593 11930300 CHEK2 checkpoint kinase 2 gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:732861 D RGD:9068941 20200609 RGD DNA:mutations: :multiple PMID:17918154|REF_RGD_ID:2289704 11930300 CHEK2 checkpoint kinase 2 gene DOID:11054 urinary bladder cancer treatment ISO RGD:621543 D RGD:9068941 20200609 RGD PMID:21396995|REF_RGD_ID:10401655 11930300 CHEK2 checkpoint kinase 2 gene DOID:1115 sarcoma ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:15145354|PMID:21876083|PMID:24713400|PMID:25741868|PMID:28492532 11930300 CHEK2 checkpoint kinase 2 gene DOID:14566 disease of cellular proliferation ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cancer of multiple types, susceptibility to | ClinVar Annotator: match by term: Neoplasms PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11571648|PMID:11719428|PMID:11901158|PMID:12049740|PMID:12533788|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15239132|PMID:15492928|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16574953|PMID:16816021|PMID:16835864|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18281249|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19782031|PMID:19876921|PMID:20223004|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21876083|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:23296741|PMID:23713947|PMID:24506336|PMID:24599715|PMID:24713400|PMID:24728327|PMID:24880342|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26467025|PMID:26681312|PMID:26687385|PMID:26845104|PMID:27153395|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27782108|PMID:27783279|PMID:27878467|PMID:28492532|PMID:29978187|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31844177|PMID:32243226|PMID:32255556|PMID:33670479|PMID:33986034 11930300 CHEK2 checkpoint kinase 2 gene DOID:14566 disease of cellular proliferation ISO RGD:732861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cancer of multiple types, susceptibility to | ClinVar Annotator: match by term: Neoplasm PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11571648|PMID:11719428|PMID:11901158|PMID:12049740|PMID:12533788|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15239132|PMID:15492928|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16574953|PMID:16816021|PMID:16835864|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18281249|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19782031|PMID:19876921|PMID:20223004|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21876083|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:23296741|PMID:23713947|PMID:24506336|PMID:24599715|PMID:24713400|PMID:24728327|PMID:24880342|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26446916|PMID:26467025|PMID:26681312|PMID:26687385|PMID:26822949|PMID:26845104|PMID:27153395|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27782108|PMID:27783279|PMID:27878467|PMID:28211887|PMID:28492532|PMID:28727877|PMID:28779002|PMID:28802053|PMID:28873162|PMID:29902706|PMID:29958926|PMID:29978187|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31843900|PMID:31844177|PMID:32243226|PMID:32255556|PMID:32295079|PMID:33670479|PMID:33986034 11930300 CHEK2 checkpoint kinase 2 gene DOID:14566 disease of cellular proliferation ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cancer of multiple types, susceptibility to PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11571648|PMID:11719428|PMID:11901158|PMID:12049740|PMID:12533788|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15239132|PMID:15492928|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16574953|PMID:16816021|PMID:16835864|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18281249|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19782031|PMID:19876921|PMID:20223004|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21876083|PMID:22058216|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:23296741|PMID:23713947|PMID:24506336|PMID:24599715|PMID:24713400|PMID:24728327|PMID:24880342|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26446916|PMID:26467025|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26822949|PMID:26845104|PMID:27153395|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27782108|PMID:27783279|PMID:27878467|PMID:28211887|PMID:28492532|PMID:28727877|PMID:28779002|PMID:28802053|PMID:28873162|PMID:29520813|PMID:29902706|PMID:29958926|PMID:29978187|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30676620|PMID:30851065|PMID:30927251|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31360903|PMID:31409080|PMID:31447099|PMID:31843900|PMID:31844177|PMID:32243226|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32885271|PMID:33077847|PMID:33670479|PMID:33726816|PMID:33986034|PMID:34308366|PMID:34570182 11930300 CHEK2 checkpoint kinase 2 gene DOID:1520 colon carcinoma ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:14612911|PMID:15087378|PMID:17721994|PMID:18571837|PMID:21244692|PMID:23960188|PMID:24390236|PMID:25186627|PMID:25231023|PMID:25741868|PMID:26467025|PMID:26787654|PMID:27153395|PMID:27443514|PMID:27595995|PMID:27779110|PMID:27878467|PMID:28492532|PMID:28779002|PMID:28828701|PMID:29335925|PMID:29484706|PMID:29522266|PMID:29875428|PMID:29987844|PMID:30303537|PMID:30322893|PMID:30613976|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31214250|PMID:31220302|PMID:31409080|PMID:31512090|PMID:31811167|PMID:33134171|PMID:33558524 11930300 CHEK2 checkpoint kinase 2 gene DOID:1588 thrombocytopenia ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12094328|PMID:12533788|PMID:12690581|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15466005|PMID:15492928|PMID:15520402|PMID:16257342|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24723567|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32805687 11930300 CHEK2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:7240710 20230517 OMIM 11930300 CHEK2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31090900|PMID:31159747 11930300 CHEK2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31472684|PMID:31512090|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31882575|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32906215|PMID:32923877|PMID:32957588|PMID:3313277|PMID:33134171|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:9536098 11930300 CHEK2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27854218|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30976395|PMID:31050813|PMID:31090900 11930300 CHEK2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31882575|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34011307|PMID:9536098 11930300 CHEK2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30851065|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813 11930300 CHEK2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31090900|PMID:31118792|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31742824|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31882575|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32830346|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:33050356|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33326660|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34011307|PMID:34903604|PMID:35264596|PMID:9536098 11930300 CHEK2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28386063|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157 11930300 CHEK2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30851065|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31871297|PMID:31882575|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:33050356|PMID:33077847|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34011307|PMID:34072659|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35264596|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:9536098 11930300 CHEK2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25326637|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28386063|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157 11930300 CHEK2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28386063|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157 11930300 CHEK2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30851065|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31871297|PMID:31882575|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:33050356|PMID:33077847|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34011307|PMID:34072659|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35264596|PMID:35402282|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:36988593|PMID:9536098 11930300 CHEK2 checkpoint kinase 2 gene DOID:1612 breast cancer susceptibility ISO RGD:732861 D RGD:9068941 20230518 RGD DNA:deletion: ;1100delC PMID:11967536|REF_RGD_ID:1599601 11930300 CHEK2 checkpoint kinase 2 gene DOID:1612 breast cancer susceptibility ISO RGD:732861 D RGD:9068941 20230518 RGD DNA:loss of heterozygosity PMID:17145815|REF_RGD_ID:2289706 11930300 CHEK2 checkpoint kinase 2 gene DOID:1612 breast cancer susceptibility ISO RGD:732861 D RGD:9068941 20230518 RGD DNA:missense mutations:p.I157T and p.S428F PMID:18085035|REF_RGD_ID:2289703 11930300 CHEK2 checkpoint kinase 2 gene DOID:1614 male breast cancer no_association ISO RGD:732861 D RGD:9068941 20200609 RGD DNA:deletion: :1100delC PMID:17661168|REF_RGD_ID:2289705 11930300 CHEK2 checkpoint kinase 2 gene DOID:1614 male breast cancer susceptibility ISO RGD:732861 D RGD:9068941 20200609 RGD DNA:deletion: :1100delC PMID:11967536|REF_RGD_ID:1599601 11930300 CHEK2 checkpoint kinase 2 gene DOID:1909 melanoma ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Melanoma PMID:12533788|PMID:15087378|PMID:15095295|PMID:15492928|PMID:15810020|PMID:17085682|PMID:19030985|PMID:21876083|PMID:22058216|PMID:23296741|PMID:24713400|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25980754|PMID:26084796|PMID:26446916|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26822949|PMID:26845104|PMID:27153395|PMID:27616075|PMID:27751358|PMID:28211887|PMID:28492532|PMID:28727877|PMID:28779002|PMID:28802053|PMID:28873162|PMID:29520813|PMID:29902706|PMID:29958926|PMID:30322717|PMID:30426508|PMID:30676620|PMID:30927251|PMID:31159747|PMID:31263571|PMID:31360903|PMID:31447099|PMID:31843900|PMID:32295079|PMID:32338768|PMID:32885271|PMID:33077847|PMID:33726816|PMID:34308366|PMID:34570182 11930300 CHEK2 checkpoint kinase 2 gene DOID:1967 leiomyosarcoma ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leiomyosarcoma PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12094328|PMID:12533788|PMID:12690581|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15466005|PMID:15492928|PMID:15520402|PMID:16257342|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24723567|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32805687 11930300 CHEK2 checkpoint kinase 2 gene DOID:2154 nephroblastoma ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephroblastoma PMID:10617473|PMID:11719428|PMID:11967536|PMID:15492928|PMID:18759107|PMID:19030985|PMID:20722467|PMID:21244692|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22520019|PMID:22691310|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23329222|PMID:23409019|PMID:23415889|PMID:24723567|PMID:26822237 11930300 CHEK2 checkpoint kinase 2 gene DOID:219 colon cancer ISO RGD:732861 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:15095295|PMID:21244692|PMID:22114986|PMID:22419737|PMID:22862163|PMID:23552953|PMID:24595525|PMID:25186627|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26787654|PMID:26845104|PMID:27443514|PMID:27621404|PMID:27751358|PMID:27779110|PMID:28008555|PMID:28135145|PMID:28492532|PMID:28495237|PMID:28944238|PMID:29368341|PMID:29520813|PMID:29922827|PMID:29945567|PMID:30128536|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30680046|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31341520|PMID:31398194|PMID:31784482|PMID:32227564|PMID:32830346|PMID:33471991|PMID:36136322 11930300 CHEK2 checkpoint kinase 2 gene DOID:2394 ovarian cancer ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer PMID:17145815|PMID:21153778|PMID:21681852|PMID:21876083|PMID:24713400|PMID:24728327|PMID:25741868|PMID:26023681|PMID:26467025|PMID:27039729|PMID:27510020|PMID:28492532|PMID:28724667|PMID:28779002|PMID:29356917|PMID:30851065|PMID:31398194|PMID:31589614|PMID:32658311|PMID:32885271|PMID:32923906|PMID:33471991|PMID:34371384|PMID:34903604 11930300 CHEK2 checkpoint kinase 2 gene DOID:2871 endometrial carcinoma ISO RGD:732861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:12533788|PMID:15087378|PMID:15095295|PMID:15492928|PMID:15810020|PMID:17085682|PMID:17576681|PMID:19030985|PMID:21876083|PMID:22058216|PMID:22114986|PMID:23296741|PMID:24713400|PMID:25186627|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25980754|PMID:26084796|PMID:26094658|PMID:26446916|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26822949|PMID:26845104|PMID:27153395|PMID:27616075|PMID:27751358|PMID:28211887|PMID:28492532|PMID:28727877|PMID:28779002|PMID:28802053|PMID:28873162|PMID:29520813|PMID:29785007|PMID:29902706|PMID:29958926|PMID:30264118|PMID:30303537|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30676620|PMID:30851065|PMID:30927251|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31360903|PMID:31422574|PMID:31447099|PMID:31843900|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32885271|PMID:32906215|PMID:33050356|PMID:33077847|PMID:33726816|PMID:34308366|PMID:34570182|PMID:35155181|PMID:9536098 11930300 CHEK2 checkpoint kinase 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:732861 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12610780|PMID:12690581|PMID:15087378|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:16257342|PMID:16492927|PMID:16880452|PMID:16982735|PMID:17085682|PMID:17721994|PMID:18172190|PMID:19338683|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23946381|PMID:24033266|PMID:24549055|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29356917|PMID:29479983|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29684080|PMID:29909568|PMID:29909963|PMID:30303537|PMID:30322717|PMID:30851065|PMID:30967556|PMID:31214711|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32906215 11930300 CHEK2 checkpoint kinase 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12610780|PMID:12690581|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:16257342|PMID:16492927|PMID:16880452|PMID:16982735|PMID:17085682|PMID:17721994|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24549055|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26506619|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29356917|PMID:29479983|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29684080|PMID:29909568|PMID:29909963|PMID:30303537|PMID:30322717|PMID:30851065|PMID:30967556|PMID:31214711|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32906215|PMID:33471991 11930300 CHEK2 checkpoint kinase 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12610780|PMID:12690581|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:16257342|PMID:16492927|PMID:16880452|PMID:16982735|PMID:17085682|PMID:17721994|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24549055|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26506619|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29356917|PMID:29479983|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29684080|PMID:29909568|PMID:29909963|PMID:30303537|PMID:30322717|PMID:30851065|PMID:30967556|PMID:31214711|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32906215|PMID:32923877|PMID:33471991|PMID:33789101|PMID:35643632|PMID:36988593 11930300 CHEK2 checkpoint kinase 2 gene DOID:3070 high grade glioma ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12094328|PMID:12533788|PMID:12690581|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15466005|PMID:15492928|PMID:15520402|PMID:16257342|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24723567|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32805687 11930300 CHEK2 checkpoint kinase 2 gene DOID:3168 squamous cell neoplasm ISO RGD:732861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24880342 11930300 CHEK2 checkpoint kinase 2 gene DOID:3308 embryonal carcinoma ISO RGD:732861 D RGD:9068941 20200609 RGD protein:decreased expression:testis PMID:11593395|REF_RGD_ID:2298484 11930300 CHEK2 checkpoint kinase 2 gene DOID:3347 osteosarcoma ISO RGD:732861 D RGD:7240710 20230517 OMIM 11930300 CHEK2 checkpoint kinase 2 gene DOID:3347 osteosarcoma ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteosarcoma, somatic PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24556621|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28709830|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29335925|PMID:29351919|PMID:29356917|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30264118|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30826992|PMID:30851065|PMID:30927251|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31512090|PMID:31614935|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33077847|PMID:33134171|PMID:33158149|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33986034|PMID:34299313|PMID:34308366 11930300 CHEK2 checkpoint kinase 2 gene DOID:3347 osteosarcoma ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Osteosarcoma, somatic PMID:34570182|PMID:34622392|PMID:34903604|PMID:35264596|PMID:36988593 11930300 CHEK2 checkpoint kinase 2 gene DOID:3376 bone osteosarcoma ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bone osteosarcoma PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24556621|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28709830|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29335925|PMID:29351919|PMID:29356917|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30264118|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30826992|PMID:30851065|PMID:30927251|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31512090|PMID:31614935|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31871297|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33077847|PMID:33134171|PMID:33158149|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33692755|PMID:33726816 11930300 CHEK2 checkpoint kinase 2 gene DOID:3376 bone osteosarcoma ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bone osteosarcoma PMID:33986034|PMID:34299313|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35264596|PMID:36988593 11930300 CHEK2 checkpoint kinase 2 gene DOID:3459 breast carcinoma ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12690581|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15810020|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16880452|PMID:17085682|PMID:17576681|PMID:18172190|PMID:18759107|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21244692|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22862163|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24595525|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25452411|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25980754|PMID:26023681|PMID:26084796|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27039729|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27443514|PMID:27510020|PMID:27616075|PMID:27621404|PMID:27751358|PMID:27779110|PMID:27798748|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:29146883|PMID:29335925|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29406849|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29902706|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29958926|PMID:30128536|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30580288|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30858171|PMID:30927251|PMID:30980208|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31589614|PMID:31784482|PMID:31843900|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32531112|PMID:32658311|PMID:32805687|PMID:32830346|PMID:32885271|PMID:32900738|PMID:32906215|PMID:33077847|PMID:33471991|PMID:33558524|PMID:33726816|PMID:33919281|PMID:33925588|PMID:33980423|PMID:34308366|PMID:34433815|PMID:34570182|PMID:34903604|PMID:35220195|PMID:36136322|PMID:9536098 11930300 CHEK2 checkpoint kinase 2 gene DOID:3948 adrenocortical carcinoma ISO RGD:732861 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11571648|PMID:11719428|PMID:11901158|PMID:12049740|PMID:12533788|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15239132|PMID:15492928|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16574953|PMID:16816021|PMID:16835864|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18281249|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19782031|PMID:19876921|PMID:20223004|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21876083|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:23296741|PMID:23713947|PMID:24506336|PMID:24599715|PMID:24713400|PMID:24728327|PMID:24880342|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26467025|PMID:26681312|PMID:26687385|PMID:26845104|PMID:27153395|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27782108|PMID:27783279|PMID:27878467|PMID:28492532|PMID:29978187|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31409080|PMID:31844177|PMID:32243226|PMID:32255556|PMID:33670479|PMID:33986034 11930300 CHEK2 checkpoint kinase 2 gene DOID:4001 ovarian carcinoma ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:16199547|PMID:21876083|PMID:24713400|PMID:28492532 11930300 CHEK2 checkpoint kinase 2 gene DOID:4440 seminoma ISO RGD:732861 D RGD:9068941 20200609 RGD protein:decreased expression:testis PMID:11593395|REF_RGD_ID:2298484 11930300 CHEK2 checkpoint kinase 2 gene DOID:4905 pancreatic carcinoma ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12094328|PMID:12533788|PMID:12690581|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15466005|PMID:15492928|PMID:15520402|PMID:16257342|PMID:16492927|PMID:16794575|PMID:16880452|PMID:17085682|PMID:17576681|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21244692|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24723567|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28580595|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29785007|PMID:29909568|PMID:30128536|PMID:30264118|PMID:30303537|PMID:30322717|PMID:30851065|PMID:31050813|PMID:31118792|PMID:31300551|PMID:31422574|PMID:31843900|PMID:31993860|PMID:32068069|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32658311|PMID:32805687|PMID:32860008|PMID:32906215|PMID:33050356|PMID:33471991|PMID:35155181|PMID:9536098 11930300 CHEK2 checkpoint kinase 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:732861 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:20713355|PMID:22114986|PMID:25503501|PMID:25619829|PMID:25741868|PMID:25980754|PMID:26467025|PMID:27553368|PMID:27751358|PMID:28492532|PMID:29522266|PMID:29922827|PMID:30441849|PMID:30613976|PMID:30851065|PMID:31398194|PMID:32183364|PMID:32957588|PMID:33471991|PMID:33919281|PMID:33925588|PMID:34072659|PMID:34903604 11930300 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909963|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30975761|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054 11930300 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31472684|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32383162|PMID:32531112|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33134171|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:9536098 11930300 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30833958 11930300 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30851065|PMID:30975761|PMID:30976395|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33050356|PMID:33128190|PMID:33134171|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34404389|PMID:35155181|PMID:9536098 11930300 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046 11930300 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30826992|PMID:30833958|PMID:30851065|PMID:30975761|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33050356|PMID:33128190|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34404389|PMID:34903604|PMID:35155181|PMID:9536098 11930300 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594 11930300 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30676620|PMID:30680046|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30975761|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33050356|PMID:33128190|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34404389|PMID:34903604|PMID:35155181|PMID:9536098 11930300 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33050356|PMID:33128190|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34404389|PMID:34903604|PMID:35155181|PMID:35264596|PMID:9536098 11930300 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23381312|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:2723131|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582 11930300 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33050356|PMID:33128190|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34404389|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35264596|PMID:9536098 11930300 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23381312|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:2723131|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976 11930300 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32986223|PMID:33050356|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34404389|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35264596|PMID:35402282|PMID:36136322|PMID:9536098 11930300 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849 11930300 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30927251|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871297|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32986223|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34404389|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:36136322|PMID:9536098 11930300 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508 11930300 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30875412|PMID:30927251|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871297|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32986223|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34404389|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35643632|PMID:36136322|PMID:9536098 11930300 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20722467|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823 11930300 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871297|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32986223|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34404389|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35643632|PMID:36011273|PMID:36136322|PMID:36988593|PMID:9536098 11930300 CHEK2 checkpoint kinase 2 gene DOID:6000 congestive heart failure ISO RGD:732861 D RGD:9068941 20200609 RGD protein:increased phosphorylation:heart myocardium PMID:12702777|REF_RGD_ID:2289708 11930300 CHEK2 checkpoint kinase 2 gene DOID:630 genetic disease ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12052256|PMID:16199547|PMID:21876083|PMID:22419737|PMID:24713400|PMID:25741868|PMID:26206375|PMID:26467025|PMID:28492532|PMID:28779002 11930300 CHEK2 checkpoint kinase 2 gene DOID:769 neuroblastoma ISO RGD:732861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23334666 11930300 CHEK2 checkpoint kinase 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:732861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11930300 CHEK2 checkpoint kinase 2 gene DOID:9000357 Male Breast Neoplasms ISO RGD:732861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11967536 11930300 CHEK2 checkpoint kinase 2 gene DOID:9000466 Prostate Cancer, Somatic ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Prostate cancer, somatic PMID:12454775|PMID:12533788|PMID:15095295|PMID:15239132|PMID:15818573|PMID:16835864|PMID:16941491|PMID:16982735|PMID:18058223|PMID:18996005|PMID:19782031|PMID:21059199|PMID:21244692|PMID:21744992|PMID:21876083|PMID:22114986|PMID:22419737|PMID:23334666|PMID:24713400|PMID:25186627|PMID:25318351|PMID:25525159|PMID:25629968|PMID:25741868|PMID:26467025|PMID:26506619|PMID:26580448|PMID:26787654|PMID:26976419|PMID:27595995|PMID:27616075|PMID:27978560|PMID:28125078|PMID:28135145|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29520813|PMID:29522266|PMID:29752822|PMID:30086788|PMID:30287823|PMID:30303537|PMID:30826992|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31614935|PMID:31780696|PMID:32566746|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32980694|PMID:33471991|PMID:33692755|PMID:34711244|PMID:34903604|PMID:35980532 11930300 CHEK2 checkpoint kinase 2 gene DOID:9000918 Disease Progression ISO RGD:732861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11930300 CHEK2 checkpoint kinase 2 gene DOID:9002265 Kidney Neoplasms onset ISO RGD:621543 D RGD:9068941 20200609 RGD protein:increased phosphorylation:kidney outer medulla outer stripe (rat) PMID:22411272|REF_RGD_ID:10401643 11930300 CHEK2 checkpoint kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12533788 11930300 CHEK2 checkpoint kinase 2 gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:732861 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity PMID:17145815|REF_RGD_ID:2289706 11930300 CHEK2 checkpoint kinase 2 gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:732861 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.I157T PMID:16828850|REF_RGD_ID:2298482 11930300 CHEK2 checkpoint kinase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colonic neoplasm PMID:16794575|PMID:21244692|PMID:22419737|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27751358|PMID:28486781|PMID:28492532|PMID:28580595|PMID:30128536|PMID:30303537|PMID:30322717|PMID:30851065|PMID:31050813|PMID:31118792|PMID:32068069|PMID:32658311|PMID:32860008|PMID:33050356|PMID:33471991 11930300 CHEK2 checkpoint kinase 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:732861 D RGD:9068941 20200609 RGD PMID:18299147|REF_RGD_ID:2296067 11930300 CHEK2 checkpoint kinase 2 gene DOID:9004265 Endometrioid Carcinomas susceptibility ISO RGD:732861 D RGD:9068941 20200609 RGD PMID:17164260|REF_RGD_ID:2293868 11930300 CHEK2 checkpoint kinase 2 gene DOID:9005172 Lung Neoplasms ISO RGD:732861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24880342 11930300 CHEK2 checkpoint kinase 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary prostate cancer PMID:21876083|PMID:24713400|PMID:25741868|PMID:26467025|PMID:27083775|PMID:28492532|PMID:30128536|PMID:31844177|PMID:32805687|PMID:33471991 11930300 CHEK2 checkpoint kinase 2 gene DOID:9005804 Vulvar Neoplasms ISO RGD:732861 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:252A>G PMID:11875739|REF_RGD_ID:2298483 11930300 CHEK2 checkpoint kinase 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:621543 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle (rat) PMID:25129990|REF_RGD_ID:10400905 11930300 CHEK2 checkpoint kinase 2 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Triple-negative breast cancer PMID:26328243|PMID:28492532 11930300 CHEK2 checkpoint kinase 2 gene DOID:9006911 Congenital Heart Defects, Multiple Types, 3 ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 3 PMID:21876083|PMID:24713400|PMID:25741868|PMID:26467025|PMID:26580448|PMID:27751358|PMID:28492532|PMID:28724667|PMID:28779002|PMID:29356917|PMID:29922827|PMID:30287823|PMID:30303537|PMID:32658311|PMID:33558524|PMID:34299313|PMID:36988593 11930300 CHEK2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10617473|PMID:10973490|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21348412|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21765476|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23298314|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26752676|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002 11930300 CHEK2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32383162|PMID:32531112|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32906215|PMID:32923877|PMID:32957588|PMID:3313277|PMID:33134171|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33986034|PMID:34008015|PMID:34371384|PMID:9536098|PMID:9836640 11930300 CHEK2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10617473|PMID:10973490|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23298314|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26752676|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053 11930300 CHEK2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32854451|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:33050356|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33670479|PMID:33692755|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34903604|PMID:35155181|PMID:9536098|PMID:9836640 11930300 CHEK2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32854451|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:33050356|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33670479|PMID:33692755|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34903604|PMID:35155181|PMID:9536098|PMID:9836640 11930300 CHEK2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10617473|PMID:10973490|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23298314|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23381312|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26752676|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:2723131|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002 11930300 CHEK2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:33050356|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33670479|PMID:33692755|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34711244|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35264596|PMID:9536098|PMID:9836640 11930300 CHEK2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10617473|PMID:10973490|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23298314|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23381312|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26752676|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:2723131|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916 11930300 CHEK2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:33050356|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33670479|PMID:33692755|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34711244|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35264596|PMID:9536098|PMID:9836640 11930300 CHEK2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10617473|PMID:10973490|PMID:11053450|PMID:11085506|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12442270|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:17918214|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18644861|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23298314|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23381312|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24686850|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26752676|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:2723131|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595|PMID:28608266 11930300 CHEK2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31882575|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33670479|PMID:33692755|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34034685|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34622392|PMID:34711244|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35264596|PMID:35402282|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:9536098|PMID:9836640 11930300 CHEK2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10617473|PMID:10973490|PMID:11053450|PMID:11085506|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12442270|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:17918214|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18644861|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24686850|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26752676|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28104920|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595 11930300 CHEK2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31882575|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33077847|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34034685|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34570182|PMID:34622392|PMID:34711244|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:9536098|PMID:9836640 11930300 CHEK2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28555940|PMID:28577310|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31882575|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33050356|PMID:33077847|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33646313|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34034685|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34570182|PMID:34622392|PMID:34711244|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:9536098|PMID:9836640 11930300 CHEK2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10617473|PMID:10973490|PMID:11053450|PMID:11085506|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12442270|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:17918214|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18644861|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20722467|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21348412|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21765476|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24686850|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26752676|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28104920|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940 11930300 CHEK2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28577310|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31882575|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33050356|PMID:33077847|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33606978|PMID:33646313|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34034685|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34570182|PMID:34622392|PMID:34711244|PMID:34771502|PMID:34903604|PMID:34991090|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:36315513|PMID:36988593|PMID:9536098|PMID:9836640 11930300 CHEK2 checkpoint kinase 2 gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy PMID:28492532 11930300 CHEK2 checkpoint kinase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12690581 11930300 CHEK2 checkpoint kinase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12094328|PMID:12533788|PMID:12690581|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15145354|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16880452|PMID:16883537|PMID:16914568|PMID:17085682|PMID:17721994|PMID:18085035|PMID:18172190|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21244692|PMID:21618645|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22862163|PMID:22994785|PMID:23318652|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24390236|PMID:24506336|PMID:24595525|PMID:24713400|PMID:24723567|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25503501|PMID:25583358|PMID:25629968|PMID:25741868|PMID:25884806|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26641009|PMID:26681312|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27621404|PMID:27751358|PMID:27779110|PMID:27798748|PMID:27806230|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28580595|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29338689|PMID:29351919|PMID:29368341|PMID:29470806|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29560538|PMID:29625052|PMID:29667044|PMID:29785153|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30426508|PMID:30676620|PMID:30680046|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31472684|PMID:31742824|PMID:31784482|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32091409|PMID:32119081|PMID:32227564|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32566746|PMID:32805687|PMID:32830346|PMID:32885271|PMID:33471974|PMID:33471991|PMID:34308366|PMID:34622392|PMID:35264596|PMID:36136322 11930300 CHEK2 checkpoint kinase 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:10617473|PMID:10973490|PMID:11053450|PMID:11085506|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11733767|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12442270|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15145354|PMID:15239132|PMID:15279791|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16897426|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:17918214|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18644861|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19763152|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20307669|PMID:20643596|PMID:20713355|PMID:20722467|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21348412|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21765476|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22406018|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25330149|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25640679|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26752676|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28104920|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237 11930300 CHEK2 checkpoint kinase 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33050356|PMID:33077847|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33257031|PMID:33260537|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33606978|PMID:33646313|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34034685|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34570182|PMID:34622392|PMID:34711244|PMID:34771502|PMID:34903604|PMID:34991090|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:36315513|PMID:36988593|PMID:9536098|PMID:9836640 11930300 CHEK2 checkpoint kinase 2 gene DOID:9008975 Gastrointestinal Hemorrhage ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hematochezia PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12094328|PMID:12533788|PMID:12690581|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15466005|PMID:15492928|PMID:15520402|PMID:16257342|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24723567|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32805687 11930300 CHEK2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:7240710 20230517 OMIM 11930300 CHEK2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Familial colorectal cancer PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12690581|PMID:12805407|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:24033266|PMID:24506336|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26467025|PMID:26483394|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29785153|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30269267|PMID:30287823|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31784482|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:33670479|PMID:33986034 11930300 CHEK2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:24033266|PMID:24506336|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26467025|PMID:26483394|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29785153|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30269267|PMID:30287823|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30976395|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31784482|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:33670479|PMID:33986034 11930300 CHEK2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23946381|PMID:24033266|PMID:24506336|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26467025|PMID:26483394|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29785153|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31784482|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32830346|PMID:33471991|PMID:33670479|PMID:33986034 11930300 CHEK2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23946381|PMID:24033266|PMID:24506336|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26467025|PMID:26483394|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29785153|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31784482|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32830346|PMID:33471991|PMID:33670479|PMID:33986034|PMID:35264596 11930300 CHEK2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23946381|PMID:24033266|PMID:24506336|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26467025|PMID:26483394|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29785153|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31784482|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32830346|PMID:33471991|PMID:33670479|PMID:33986034|PMID:35264596 11930300 CHEK2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24506336|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28709830|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29439820|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29560538|PMID:29625052|PMID:29659569|PMID:29785153|PMID:29902706|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30927251|PMID:31036035|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31447099|PMID:31614935|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33077847|PMID:33158149|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33986034|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35264596|PMID:36136322 11930300 CHEK2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24506336|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28709830|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29439820|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29560538|PMID:29625052|PMID:29659569|PMID:29785007|PMID:29785153|PMID:29902706|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30927251|PMID:31036035|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31447099|PMID:31614935|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33077847|PMID:33158149|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33986034|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35264596|PMID:36136322 11930300 CHEK2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24506336|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28709830|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29439820|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29560538|PMID:29625052|PMID:29659569|PMID:29758562|PMID:29785007|PMID:29785153|PMID:29902706|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30927251|PMID:31036035|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31447099|PMID:31614935|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33077847|PMID:33158149|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33986034|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35264596|PMID:36136322 11930300 CHEK2 checkpoint kinase 2 gene DOID:9256 colorectal cancer susceptibility ISO RGD:732861 D RGD:9068941 20230518 RGD DNA:loss of heterozygosity PMID:17145815|REF_RGD_ID:2289706 11930300 CHEK2 checkpoint kinase 2 gene DOID:9460 uterine corpus cancer ISO RGD:732861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:21876083|PMID:24713400|PMID:28492532 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:0001816 angiosarcoma ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased phosphorylation:blood vessel PMID:18700251|REF_RGD_ID:8694308 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30481203 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:22684844|REF_RGD_ID:6892915 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24090995 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:0050589 inflammatory bowel disease ISO RGD:69005 D RGD:9068941 20220825 MouseDO 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:0050700 cardiomyopathy ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:23619365|REF_RGD_ID:7495791 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:0050700 cardiomyopathy ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10618415|PMID:24448315 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22155737 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:0050902 medulloblastoma ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19001435 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:0060071 pre-malignant neoplasm ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:23596790|REF_RGD_ID:8694319 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:0060704 lymphoproliferative syndrome ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:22859607|REF_RGD_ID:6892715 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:0070113 Niemann-Pick disease type C1 treatment ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:21176403|REF_RGD_ID:10403054 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:0080199 colorectal carcinoma treatment ISO RGD:3772 D RGD:9068941 20210611 RGD PMID:29229353|REF_RGD_ID:127284843 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:18782535|REF_RGD_ID:6483030 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:0080545 hyper IgE syndrome ISO RGD:737517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyper-IgE syndrome PMID:17881745|PMID:18591412|PMID:18602572|PMID:18706697|PMID:18978467|PMID:20032313|PMID:20159255|PMID:20301786|PMID:20816194|PMID:21792878|PMID:22751495|PMID:24033266|PMID:25741868|PMID:26384563|PMID:27226025|PMID:27799162|PMID:27980540|PMID:28098554|PMID:28315006|PMID:28492532|PMID:29077208|PMID:29868029 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19796711 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma ISO RGD:737517 D RGD:9068941 20220729 RGD protein:increased expression:nasal cavity (human) PMID:17225522|REF_RGD_ID:153298933 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 ISO RGD:737517 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive PMID:28492532 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:0110597 primary ciliary dyskinesia 22 ISO RGD:737517 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 22 PMID:25741868 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:10283 prostate cancer treatment ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:15374974|REF_RGD_ID:8694291 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:10286 prostate carcinoma ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:18210874|REF_RGD_ID:2291910 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:10286 prostate carcinoma ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased activity:prostate gland PMID:11987152|REF_RGD_ID:2298538 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased phosphorylation:peripheral blood mononuclear cell PMID:29658610|REF_RGD_ID:21081544 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:10534 stomach cancer ISO RGD:737517 D RGD:9068941 20210528 RGD human cells in mouse model, associated with mental depression; protein:increased phosphorylation:stomach (human) PMID:31396300|REF_RGD_ID:126908003 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:10534 stomach cancer treatment ISO RGD:737517 D RGD:9068941 20210611 RGD human cells in mouse model PMID:29408335|REF_RGD_ID:127284846 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:10652 Alzheimer's disease ISO RGD:69005 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation:dentate gyrus, CA1 field of hippocampus PMID:18813209|REF_RGD_ID:10403051 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:10652 Alzheimer's disease ISO RGD:737517 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation:dentate gyrus PMID:18813209|REF_RGD_ID:10403051 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:11054 urinary bladder cancer ISO RGD:737517 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36115647 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:1107 esophageal carcinoma treatment ISO RGD:737517 D RGD:9068941 20210625 RGD associated with Immune Deficiency Disease, human cells in mouse model PMID:25724470|REF_RGD_ID:127285656 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:114 heart disease treatment ISO RGD:3772 D RGD:9068941 20200609 RGD associated with Shock, Septic PMID:23404057|REF_RGD_ID:8694329 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:1227 neutropenia ISO RGD:3772 D RGD:9068941 20200609 RGD associated with T-cell large granular lymphocyte leukemia PMID:22591296|REF_RGD_ID:6892936 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:12849 autistic disorder ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:19766327|REF_RGD_ID:6483028 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:13241 Behcet's disease ISO RGD:737517 D RGD:9068941 20200609 RGD DNA:SNP: :rs2293152 (human) PMID:22205606|REF_RGD_ID:6483021 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:13241 Behcet's disease no_association ISO RGD:737517 D RGD:9068941 20200609 RGD DNA:SNP: :rs744166, rs2293152 (human) PMID:23127549|REF_RGD_ID:8694309 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:1596 depressive disorder ISO RGD:69005 D RGD:9068941 20210507 RGD protein:increased phosphorylation:hippocampus (mouse) PMID:31396300|REF_RGD_ID:126908003 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:1612 breast cancer disease_progression ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:22374428|REF_RGD_ID:8694288 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:1612 breast cancer susceptibility ISO RGD:737517 D RGD:9068941 20200609 RGD DNA:snp PMID:17639043|REF_RGD_ID:2291912 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:1612 breast cancer treatment ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:15374974|PMID:21740845|REF_RGD_ID:8694286|REF_RGD_ID:8694291 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:1724 duodenal ulcer ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:24385009|REF_RGD_ID:8694318 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:1749 squamous cell carcinoma ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566705|PMID:26432044 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:1749 squamous cell carcinoma disease_progression ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased phosphorylation:skin PMID:16043897|REF_RGD_ID:8694300 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:1793 pancreatic cancer ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22348037|PMID:23845849 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:1920 hyperuricemia treatment ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:23442673|REF_RGD_ID:10411892 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:1936 atherosclerosis ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19330073 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:1996 rectum adenocarcinoma ISO RGD:737517 D RGD:9068941 20220812 RGD DNA:missense mutation:CDS: (rs2293152) (human) PMID:22121102|REF_RGD_ID:153323313 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:2154 nephroblastoma disease_progression ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17937859|REF_RGD_ID:2291911 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:219 colon cancer ameliorates ISO RGD:737517 D RGD:9068941 20220217 RGD human cells in mouse model PMID:29899555|REF_RGD_ID:151356919 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:219 colon cancer treatment ISO RGD:3772 D RGD:9068941 20210611 RGD PMID:33360052|REF_RGD_ID:127229954 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:224 transient cerebral ischemia ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:23764464|REF_RGD_ID:8694326 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:224 transient cerebral ischemia exacerbates ISO RGD:3772 D RGD:9068941 20230406 RGD PMID:23884942|REF_RGD_ID:8694331 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:2316 brain ischemia ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17901229 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:234 colon adenocarcinoma ISO RGD:737517 D RGD:9068941 20220812 RGD DNA:SNPs:introns: (rs12949918, rs6503695) (human) PMID:22121102|REF_RGD_ID:153323313 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:234 colon adenocarcinoma treatment ISO RGD:737517 D RGD:9068941 20210528 RGD human cells in mouse model PMID:32504672|REF_RGD_ID:125097526 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:2394 ovarian cancer treatment ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:25319391|REF_RGD_ID:19165135 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:2772 irritant dermatitis treatment ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:21511023|REF_RGD_ID:8694305 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:299 adenocarcinoma ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19028472|PMID:26432044 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:3049 Churg-Strauss syndrome ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:22772323|REF_RGD_ID:6892720 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:305 carcinoma ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:3068 glioblastoma disease_progression ISO RGD:737517 D RGD:9068941 20220414 RGD mRNA, protein:increased expression:brain (human) PMID:31783691|REF_RGD_ID:151667907 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:3261 hyper IgE recurrent infection syndrome 1 ISO RGD:737517 D RGD:7240710 20180130 OMIM 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:3261 hyper IgE recurrent infection syndrome 1 ISO RGD:737517 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1 PMID:16199547|PMID:17576681|PMID:17676033|PMID:17881745|PMID:17942886|PMID:18591410|PMID:18591412|PMID:18602572|PMID:18706697|PMID:18978467|PMID:19577286|PMID:20032313|PMID:20048285|PMID:20093388|PMID:20159255|PMID:20301786|PMID:20816194|PMID:21107604|PMID:21288777|PMID:21324546|PMID:21690253|PMID:21792878|PMID:22030463|PMID:22084479|PMID:22126402|PMID:22581330|PMID:22591296|PMID:22751495|PMID:22859607|PMID:23342295|PMID:23584561|PMID:23584591|PMID:23659370|PMID:23830147|PMID:23926297|PMID:24033266|PMID:24260974|PMID:24350896|PMID:24452316|PMID:24628715|PMID:24837465|PMID:24995504|PMID:25038750|PMID:25359994|PMID:25543043|PMID:25640679|PMID:25739182|PMID:25741868|PMID:25873174|PMID:26384563|PMID:26702067|PMID:26743515|PMID:27091139|PMID:27226025|PMID:27302695|PMID:27315770|PMID:27345172|PMID:27379089|PMID:27799162|PMID:27884935|PMID:27980540|PMID:28098554|PMID:28197791|PMID:28253502|PMID:28315006|PMID:28356514|PMID:28359783|PMID:28492532|PMID:28579554|PMID:28587312|PMID:28977911|PMID:29077208|PMID:29162862|PMID:29180260|PMID:29296824|PMID:29330115|PMID:29868029|PMID:29931222|PMID:30092289|PMID:30443250|PMID:30617622|PMID:30910759|PMID:30940614|PMID:31069200|PMID:31558678|PMID:31596517|PMID:31717342|PMID:31737384|PMID:31770611|PMID:31774495|PMID:32047491|PMID:32135276|PMID:32231398|PMID:32248557|PMID:32499645|PMID:32531373|PMID:32768442|PMID:32888943|PMID:32901917|PMID:32915432|PMID:32944025|PMID:33003453|PMID:33343952|PMID:33365035|PMID:33717144|PMID:34060650|PMID:34134972|PMID:34366294|PMID:4161105|PMID:9536098 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:3314 angiomyolipoma ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:kidney PMID:15994429|REF_RGD_ID:2298537 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:lung PMID:15994429|REF_RGD_ID:2298537 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:3525 middle cerebral artery infarction ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21940958 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:3717 gastric adenocarcinoma ISO RGD:737517 D RGD:9068941 20220729 RGD mRNA:increased expression:stomach (human) PMID:33042401|REF_RGD_ID:153298934 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:3770 pulmonary fibrosis ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:22684844|REF_RGD_ID:6892915 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:3770 pulmonary fibrosis ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30658076 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25812446 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549414 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:737517 D RGD:9068941 20220428 RGD protein:increased phosphorylation:lung (human) PMID:22977534|REF_RGD_ID:152023747 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:417 autoimmune disease ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25038750 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:4450 renal cell carcinoma ISO RGD:737517 D RGD:9068941 20200609 RGD DNA:snp PMID:17602083|REF_RGD_ID:2291913 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased phosphorylation:kidney PMID:12131365|REF_RGD_ID:2291917 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:5082 liver cirrhosis ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:22687286|REF_RGD_ID:6892914 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:5434 scrapie ISO RGD:69005 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:brain, nucleus PMID:17897356|REF_RGD_ID:6483034 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27064016 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:5520 head and neck squamous cell carcinoma treatment ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:24395569|REF_RGD_ID:8694302 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:737517 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:19796711 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:6000 congestive heart failure ISO RGD:737517 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:612 primary immunodeficiency disease ISO RGD:737517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:17676033|PMID:17881745|PMID:17942886|PMID:20301786|PMID:22581330|PMID:24452316|PMID:25741868|PMID:26384563|PMID:27302695|PMID:28253502|PMID:28492532|PMID:29180260|PMID:29330115|PMID:30443250|PMID:32499645|PMID:33365035|PMID:33717144 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:630 genetic disease ISO RGD:737517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20816194|PMID:22030463|PMID:22581330|PMID:23434585|PMID:25741868|PMID:27803324|PMID:28253502|PMID:28492532|PMID:29330115|PMID:30315710|PMID:31170499|PMID:9671298 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:684 hepatocellular carcinoma ISO RGD:69005 D RGD:9068941 20210702 RGD protein:increased phosphorylation:liver (mouse) PMID:28100771|REF_RGD_ID:127285675 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:7148 rheumatoid arthritis ISO RGD:737517 D RGD:9068941 20200609 RGD associated with T-cell large granular lymphocyte leukemia PMID:22591296|REF_RGD_ID:6892936 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:824 periodontitis treatment ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:26825585|REF_RGD_ID:18936995 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:8577 ulcerative colitis ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438405|PMID:20228799 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:8577 ulcerative colitis ISO RGD:737517 D RGD:9068941 20200609 RGD DNA:SNP: :rs744166 (human) PMID:22269120|REF_RGD_ID:6483020 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:874 bacterial pneumonia ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:18192501|REF_RGD_ID:6892945 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:8778 Crohn's disease ISO RGD:737517 D RGD:9068941 20200609 RGD DNA:SNP: : (rs744166) (human) PMID:22269120|REF_RGD_ID:6483020 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:8778 Crohn's disease ISO RGD:737517 D RGD:9068941 20200609 RGD DNA:SNPs: : (rs744166, rs3816769) (human) PMID:20109474|REF_RGD_ID:6483027 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:8893 psoriasis ISO RGD:69005 D RGD:9068941 20220825 MouseDO OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:8893 psoriasis ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143594 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:8893 psoriasis treatment ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:23594598|REF_RGD_ID:8694295 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:8893 psoriasis treatment ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:20811392|REF_RGD_ID:8694306 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:8923 skin melanoma disease_progression ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:21876460|REF_RGD_ID:8694297 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased expression:nucleus PMID:17110342|REF_RGD_ID:2291916 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:cervix epithelium PMID:16005944|REF_RGD_ID:2298536 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9000081 Lymphatic Metastasis ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549414 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23382965 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9000347 Multisystem Autoimmune Disease, Infantile-Onset, 1 ISO RGD:737517 D RGD:7240710 20180130 OMIM 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9000347 Multisystem Autoimmune Disease, Infantile-Onset, 1 ISO RGD:737517 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: STAT3-related early-onset multisystem autoimmune disease PMID:17676033|PMID:17881745|PMID:17942886|PMID:20301786|PMID:21288777|PMID:21324546|PMID:22581330|PMID:24033266|PMID:24452316|PMID:25038750|PMID:25349174|PMID:25359994|PMID:25741868|PMID:27345172|PMID:27799162|PMID:28072956|PMID:28253502|PMID:28492532|PMID:29330115|PMID:30443250|PMID:30940614|PMID:32499645|PMID:32531373|PMID:32944025|PMID:33003453|PMID:33365035|PMID:33717144|PMID:34366294|PMID:4161105 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:3772 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased phosphorylation:cerebral artery PMID:24517975|REF_RGD_ID:8694356 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9000784 Fibrosis ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24448315 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737517 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell;protein:increased phosphorylation PMID:12131365|REF_RGD_ID:2291917 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737517 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;protein:decreased activity PMID:17382154|REF_RGD_ID:2291915 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737517 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:21937440|PMID:23382965|PMID:26101800 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:737517 D RGD:9068941 20200609 RGD associated with Melanoma PMID:16540670|REF_RGD_ID:8694303 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9000972 Fever ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25429137 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9000998 Brain Injuries ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:21596098|PMID:22827467|REF_RGD_ID:6483023|REF_RGD_ID:6892706 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9000998 Brain Injuries ISO RGD:3772 D RGD:9068941 20200609 RGD protein:increased phosphorylation:brain PMID:22145815|REF_RGD_ID:8694312 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:17525280|REF_RGD_ID:8694307 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:69005 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23094067|REF_RGD_ID:10403057 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9001472 Nasal Polyps ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:22959364|REF_RGD_ID:8694314 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3772 D RGD:9068941 20220331 RGD PMID:30346985|REF_RGD_ID:151665755 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436|PMID:28100771 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:21858029|REF_RGD_ID:8694310 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9001866 Pyogenic Granuloma ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased phosphorylation:blood vessel PMID:18700251|REF_RGD_ID:8694308 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:3772 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22745068|REF_RGD_ID:10403082 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9002170 Experimental Neoplasms ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29507229 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9002211 Hyperalgesia treatment ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:24098399|REF_RGD_ID:8694290 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69005 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18317887|REF_RGD_ID:2291908 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14975756|PMID:16427044|PMID:25970160 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9002457 Experimental Arthritis ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15188379|PMID:21937456 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:23711144|REF_RGD_ID:10403081 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21909139 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased phosphorylation:ovary PMID:15771796|REF_RGD_ID:2291931 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:17878325|PMID:22066025|REF_RGD_ID:6483041|REF_RGD_ID:6892946 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:16303927|REF_RGD_ID:8694296 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9002928 Colonic Neoplasms ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19028472 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25061499 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:uterine cervix PMID:17311011|REF_RGD_ID:1643476 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9003936 Cardiomegaly ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10618415|PMID:19299911|PMID:24448315 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9004009 Reperfusion Injury ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21940958 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:17318196|REF_RGD_ID:8694293 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9004462 Atrophy ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16391472 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9004464 Skin Neoplasms ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:18453544|PMID:19137019|REF_RGD_ID:8694289|REF_RGD_ID:8694294 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9004484 Sepsis treatment ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:24228589|REF_RGD_ID:10411888 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737517 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26101800 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3772 D RGD:9068941 20220324 RGD mRNA:increased expression:mammary gland (rat) PMID:16316942|REF_RGD_ID:2306898 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:17483332|REF_RGD_ID:2291914 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9005372 Inflammation ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20943775|PMID:21937456|PMID:24448315 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3772 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:aorta endothelium PMID:18230613|REF_RGD_ID:2291921 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:22660795|REF_RGD_ID:8694292 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9005647 Experimental Autoimmune Uveitis treatment ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:22238646|REF_RGD_ID:8694304 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9005873 Tongue Neoplasms ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:17169602|REF_RGD_ID:8694287 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9005873 Tongue Neoplasms disease_progression ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:22302289|REF_RGD_ID:8694311 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9006205 Animal Disease Models ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25812446 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9006285 Epidermal Hyperplasia ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:23870655|REF_RGD_ID:8699499 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:18424728|REF_RGD_ID:8694299 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9007188 Liver Neoplasms ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12957465 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737517 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:25970160|PMID:26101800|PMID:34953898 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9007715 Endometrial Neoplasms ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:endometrium PMID:17311011|REF_RGD_ID:1643476 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:23796350|REF_RGD_ID:8694332 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9007842 Sepsis-Associated Encephalopathy treatment ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:23236988|REF_RGD_ID:10403076 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9008 psoriatic arthritis ISO RGD:737517 D RGD:9068941 20200609 RGD DNA:SNP: :rs744166 (human) PMID:23127549|REF_RGD_ID:8694309 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9008 psoriatic arthritis no_association ISO RGD:737517 D RGD:9068941 20200609 RGD DNA:SNP: :rs2293152 (human) PMID:23127549|REF_RGD_ID:8694309 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9008023 Memory Disorders ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17928813 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9008510 Chronic Hepatitis ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9008691 Liver Injury treatment ISO RGD:3772 D RGD:9068941 20200609 RGD associated with Pancreatitis, Acute PMID:24161994|REF_RGD_ID:8694328 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9008939 Breast Neoplasms ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14975756 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9119 acute myeloid leukemia ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19796711 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9256 colorectal cancer ISO RGD:69005 D RGD:9068941 20220825 MouseDO OMIM:114500 | OMIM:608812 | OMIM:611469 | OMIM:612229 | OMIM:612230 | OMIM:612231 | OMIM:612232 | OMIM:612589 | OMIM:612590 | OMIM:612591 | OMIM:612592 | OMIM:615083 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9261 nasopharynx carcinoma severity ISO RGD:737517 D RGD:9068941 20210716 RGD protein:increased expression:mucosa of nasopharynx (human) PMID:30123088|REF_RGD_ID:149735327 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:skeletal muscle PMID:23043161|REF_RGD_ID:8694321 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25038750 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9970 obesity ISO RGD:3772 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:hypothalamus PMID:23397595|REF_RGD_ID:10411893 11930315 STAT3 signal transducer and activator of transcription 3 gene DOID:9997 peripartum cardiomyopathy ISO RGD:69005 D RGD:9068941 20220825 MouseDO 11930366 PRR30 proline rich 30 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1602815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11930366 PRR30 proline rich 30 gene DOID:630 genetic disease ISO RGD:1602815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11930373 POGZ pogo transposable element derived with ZNF domain gene DOID:0060041 autism spectrum disorder ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545|PMID:28492532|PMID:30504930 11930373 POGZ pogo transposable element derived with ZNF domain gene DOID:0070067 White-Sutton syndrome ISO RGD:1320615 D RGD:7240710 20180130 OMIM 11930373 POGZ pogo transposable element derived with ZNF domain gene DOID:0070067 White-Sutton syndrome ISO RGD:1320615 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome PMID:22495311|PMID:22542183|PMID:23375656|PMID:24267886|PMID:24463507|PMID:24896178|PMID:25533962|PMID:25694107|PMID:25741868|PMID:26077850|PMID:26739615|PMID:26763879|PMID:26942287|PMID:27148570|PMID:28480548|PMID:28492532|PMID:28708303|PMID:31782611|PMID:31981491|PMID:33098347|PMID:33277917|PMID:34529370|PMID:9862965 11930373 POGZ pogo transposable element derived with ZNF domain gene DOID:0080422 Dravet syndrome ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 11930373 POGZ pogo transposable element derived with ZNF domain gene DOID:0080442 developmental and epileptic encephalopathy 41 ISO RGD:1320615 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 41 PMID:25741868 11930373 POGZ pogo transposable element derived with ZNF domain gene DOID:0111940 immunodeficiency 42 ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11930373 POGZ pogo transposable element derived with ZNF domain gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11930373 POGZ pogo transposable element derived with ZNF domain gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1320615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11930373 POGZ pogo transposable element derived with ZNF domain gene DOID:1059 intellectual disability ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency PMID:25741868|PMID:26077850|PMID:27148570|PMID:31782611 11930373 POGZ pogo transposable element derived with ZNF domain gene DOID:1540 parathyroid carcinoma ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11930373 POGZ pogo transposable element derived with ZNF domain gene DOID:5812 MHC class II deficiency ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11930373 POGZ pogo transposable element derived with ZNF domain gene DOID:630 genetic disease ISO RGD:1320615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20562864|PMID:21518873|PMID:22495311|PMID:22542183|PMID:23375656|PMID:24267886|PMID:24463507|PMID:24896178|PMID:25533962|PMID:25694107|PMID:25741868|PMID:26077850|PMID:26739615|PMID:26942287|PMID:27148570|PMID:28480548|PMID:28492532|PMID:31782611|PMID:31981491|PMID:33277917|PMID:9862965 11930373 POGZ pogo transposable element derived with ZNF domain gene DOID:9003133 Hypertelorism ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 11930373 POGZ pogo transposable element derived with ZNF domain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320615 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26942287|PMID:28492532|PMID:31782611|PMID:31981491 11930373 POGZ pogo transposable element derived with ZNF domain gene DOID:9007661 Dwarfism ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11930373 POGZ pogo transposable element derived with ZNF domain gene DOID:9008086 Developmental Disabilities ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:26077850|PMID:27148570|PMID:31782611 11930373 POGZ pogo transposable element derived with ZNF domain gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11930373 POGZ pogo transposable element derived with ZNF domain gene DOID:9970 obesity ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity 11930415 XPOT exportin for tRNA gene DOID:630 genetic disease ISO RGD:1313662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11930445 IL31RA interleukin 31 receptor A gene DOID:0050639 primary cutaneous amyloidosis ISO RGD:1344882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11930445 IL31RA interleukin 31 receptor A gene DOID:0080931 primary localized cutaneous amyloidosis 2 ISO RGD:1344882 D RGD:7240710 20180130 OMIM 11930445 IL31RA interleukin 31 receptor A gene DOID:0080931 primary localized cutaneous amyloidosis 2 ISO RGD:1344882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidosis, primary localized cutaneous, 2 PMID:19690585|PMID:25741868 11930445 IL31RA interleukin 31 receptor A gene DOID:630 genetic disease ISO RGD:1344882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11930445 IL31RA interleukin 31 receptor A gene DOID:9000998 Brain Injuries ISO RGD:1344882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 11930445 IL31RA interleukin 31 receptor A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11930485 ALPP alkaline phosphatase, placental gene DOID:0060041 autism spectrum disorder ISO RGD:1314395 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11930485 ALPP alkaline phosphatase, placental gene DOID:0060476 Perlman syndrome ISO RGD:1314395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11930485 ALPP alkaline phosphatase, placental gene DOID:0110991 Joubert syndrome 22 ISO RGD:1314395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11930485 ALPP alkaline phosphatase, placental gene DOID:630 genetic disease ISO RGD:1314395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11930500 CCDC43 coiled-coil domain containing 43 gene DOID:630 genetic disease ISO RGD:1606980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11930509 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:737468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11930509 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:10763 hypertension ISO RGD:2835 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:kidney PMID:10792625|REF_RGD_ID:2308925 11930509 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:10763 hypertension ISO RGD:2835 D RGD:9068941 20220204 RGD PMID:26077568|REF_RGD_ID:13800514 11930509 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:10763 hypertension ISO RGD:737468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11082157|PMID:7670488|PMID:9683905|PMID:9707624 11930509 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:10763 hypertension ISO RGD:737468 D RGD:9068941 20200609 RGD apparent mineralocorticoid excess syndrome, OMIM:218030; DNA:transition:CDS:945C->T, amino acid R279C PMID:9683587|REF_RGD_ID:1625078 11930509 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:1184 nephrotic syndrome ISO RGD:737468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15199296 11930509 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:2841 asthma ISO RGD:737468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11932298 11930509 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:4367 apparent mineralocorticoid excess syndrome ISO RGD:737468 D RGD:7240710 20180130 OMIM 11930509 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:4367 apparent mineralocorticoid excess syndrome ISO RGD:737468 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Apparent mineralocorticoid excess | ClinVar Annotator: match by term: Apparent mineralocorticoid excess, mild PMID:10536001|PMID:11114699|PMID:11238516|PMID:12788846|PMID:15126515|PMID:15134813|PMID:15673310|PMID:16778331|PMID:17314322|PMID:20571110|PMID:23303402|PMID:24123366|PMID:25593612|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33532864|PMID:3860318|PMID:7593417|PMID:7593456|PMID:7608290|PMID:7670488|PMID:9398712|PMID:9683587|PMID:9707624|PMID:9851783 11930509 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:5082 liver cirrhosis ISO RGD:737468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15199296 11930509 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:5199 ureteral obstruction ISO RGD:2835 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:17475897|REF_RGD_ID:2308940 11930509 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:5844 myocardial infarction ISO RGD:2835 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:17587755|REF_RGD_ID:2308939 11930509 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:5844 myocardial infarction ISO RGD:737468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17587755 11930509 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:630 genetic disease ISO RGD:737468 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11930509 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:655 inherited metabolic disorder ISO RGD:737468 D RGD:9068941 20200609 RGD apparent mineralocorticoid excess syndrome, OMIM:218030; DNA:transition:CDS:945C->T, amino acid R279C PMID:9683587|REF_RGD_ID:1625078 11930509 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2835 D RGD:9068941 20200609 RGD associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney PMID:17272666|REF_RGD_ID:2308941 11930509 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:9004702 Pregnancy Complications ISO RGD:737468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11932298 11930509 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737468 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:skeletal muscle PMID:17519316|REF_RGD_ID:2308922 11930509 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16616286 11930509 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737468 D RGD:9068941 20200609 RGD PMID:11916625|PMID:16616286|REF_RGD_ID:2308923|REF_RGD_ID:2308924 11930509 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:9970 obesity ISO RGD:2835 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue:subcutaneous not retroperitoneal fat PMID:17208436|REF_RGD_ID:1625081 11930509 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:9970 obesity resistance ISO RGD:10735 D RGD:9068941 20200609 RGD transgenic mice expressing human HSD11B2 PMID:15793240|REF_RGD_ID:1625083 11930509 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:9970 obesity resistance ISO RGD:737468 D RGD:9068941 20200609 RGD transgenic mice expressing human HSD11B2 PMID:15793240|REF_RGD_ID:1625083 11930524 THADA THADA armadillo repeat containing gene DOID:3883 Lynch syndrome ISO RGD:1323240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11930524 THADA THADA armadillo repeat containing gene DOID:630 genetic disease ISO RGD:1323240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11930524 THADA THADA armadillo repeat containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:1323240 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18372903 11930573 RGS9BP regulator of G protein signaling 9 binding protein gene DOID:0050335 bradyopsia ISO RGD:1601793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bradyopsia PMID:14702087|PMID:25741868|PMID:28492532 11930573 RGS9BP regulator of G protein signaling 9 binding protein gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1601793 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11930573 RGS9BP regulator of G protein signaling 9 binding protein gene DOID:630 genetic disease ISO RGD:1601793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11930573 RGS9BP regulator of G protein signaling 9 binding protein gene DOID:9003661 Bradyopsia 2 ISO RGD:1601793 D RGD:7240710 20230505 OMIM 11930573 RGS9BP regulator of G protein signaling 9 binding protein gene DOID:9003661 Bradyopsia 2 ISO RGD:1601793 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Prolonged electroretinal response suppression 2 PMID:19818506 11930578 PRKCH protein kinase C eta gene DOID:303 substance-related disorder ISO RGD:735345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11930578 PRKCH protein kinase C eta gene DOID:3526 cerebral infarction ISO RGD:735345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral infarction, susceptibility to | ClinVar Annotator: match by term: Ischemic stroke PMID:12958323|PMID:17206144|PMID:25741868 11930578 PRKCH protein kinase C eta gene DOID:3526 cerebral infarction susceptibility ISO RGD:735345 D RGD:7240710 20230505 OMIM 11930578 PRKCH protein kinase C eta gene DOID:630 genetic disease ISO RGD:735345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11930578 PRKCH protein kinase C eta gene DOID:9970 obesity ISO RGD:735345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23563609 11930608 MRPS11 mitochondrial ribosomal protein S11 gene DOID:2717 Bloom syndrome ISO RGD:1350817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11930608 MRPS11 mitochondrial ribosomal protein S11 gene DOID:630 genetic disease ISO RGD:1350817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11930608 MRPS11 mitochondrial ribosomal protein S11 gene DOID:9000217 Stomach Neoplasms ISO RGD:1350817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11930608 MRPS11 mitochondrial ribosomal protein S11 gene DOID:9000918 Disease Progression ISO RGD:1350817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11930608 MRPS11 mitochondrial ribosomal protein S11 gene DOID:9256 colorectal cancer ISO RGD:1350817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11930689 PRPF40B pre-mRNA processing factor 40 homolog B gene DOID:630 genetic disease ISO RGD:1604375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:0014667 disease of metabolism ISO RGD:621725 D RGD:9068941 20200609 RGD Acute Lysosomal Thesaurismosis;protein: increased expression:kidney proximal tubule epithelial cell, lysosome (rat) PMID:10469394|REF_RGD_ID:4142786 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:0050589 inflammatory bowel disease ISO RGD:10733 D RGD:9068941 20200609 RGD PMID:21135124|REF_RGD_ID:6218980 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:736219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:0081267 graft-versus-host disease ISO RGD:621725 D RGD:9068941 20200609 RGD PMID:9557158|REF_RGD_ID:7242787 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:1073 renal hypertension ISO RGD:736219 D RGD:9068941 20200609 RGD DNA: snp: 5'utr: -110A>C Associated with chronic kidney disease PMID:21475814|REF_RGD_ID:7242785 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:10763 hypertension ISO RGD:736219 D RGD:9068941 20200609 RGD mRNA: increased expression: leukocyte PMID:17341625|REF_RGD_ID:6480224 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:12858 Huntington's disease ISO RGD:10733 D RGD:9068941 20200609 RGD protein: increased expression PMID:22171050|REF_RGD_ID:5688778 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:14330 Parkinson's disease ISO RGD:621725 D RGD:9068941 20200609 RGD protein: increased expression: brain PMID:17241115|REF_RGD_ID:6480228 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:14330 Parkinson's disease ISO RGD:736219 D RGD:9068941 20200609 RGD PMID:18704197|REF_RGD_ID:6480203 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:14330 Parkinson's disease ISO RGD:736219 D RGD:9068941 20200609 RGD protein: decreased expression PMID:20697033|REF_RGD_ID:6218982 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:1749 squamous cell carcinoma ISO RGD:736219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:224 transient cerebral ischemia ISO RGD:621725 D RGD:9068941 20200609 RGD protein:increased expression:brain, postsynaptic density (rat) PMID:9425004|REF_RGD_ID:10059344 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:2316 brain ischemia ISO RGD:621725 D RGD:9068941 20200609 RGD PMID:16805800|REF_RGD_ID:6480229 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:2377 multiple sclerosis ISO RGD:736219 D RGD:9068941 20200609 RGD protein: increased expression: cerebrospinal fluid PMID:16303141|REF_RGD_ID:6480236 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:736219 D RGD:9068941 20200609 RGD protein: increased expression PMID:21824468|REF_RGD_ID:5688780 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:299 adenocarcinoma ISO RGD:736219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:3021 acute kidney failure ISO RGD:621725 D RGD:9068941 20200609 RGD protein:increased expression:kidney, lysosome (rat) PMID:14966137|REF_RGD_ID:7242786 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:736219 D RGD:9068941 20220303 RGD protein:decreased expression:blood (human) PMID:32663515|REF_RGD_ID:151660329 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:4362 cervical cancer ISO RGD:736219 D RGD:9068941 20200609 RGD Protein: increased expression PMID:21137014|REF_RGD_ID:6218976 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:4448 macular degeneration ISO RGD:736219 D RGD:9068941 20200609 RGD mRNA: increased expression: white blood cells PMID:19684010|REF_RGD_ID:6478714 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:5419 schizophrenia ISO RGD:736219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:630 genetic disease ISO RGD:736219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:9000217 Stomach Neoplasms ISO RGD:736219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:736219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736219 D RGD:9068941 20200609 RGD PMID:17330940|REF_RGD_ID:7242762 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:9004009 Reperfusion Injury ISO RGD:736219 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10216529 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:736219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:9004590 Acute Liver Failure ISO RGD:621725 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:15270078|REF_RGD_ID:4891447 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:9004626 Ocular Paraneoplastic Syndromes ISO RGD:621725 D RGD:9068941 20200609 RGD PMID:10586938|REF_RGD_ID:10059329 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:621725 D RGD:9068941 20200609 RGD PMID:7569112|REF_RGD_ID:7242788 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:9007364 Mouth Neoplasms ISO RGD:736219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:621725 D RGD:9068941 20200609 RGD protein:altered localization:liver (rat) PMID:12376827|REF_RGD_ID:10059389 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:9007661 Dwarfism ISO RGD:736219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11930728 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:9256 colorectal cancer disease_progression ISO RGD:736219 D RGD:9068941 20200609 RGD protein: increased expression: serum PMID:19578980|REF_RGD_ID:6480104 11930741 GMFG glia maturation factor gamma gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:736890 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11930741 GMFG glia maturation factor gamma gene DOID:630 genetic disease ISO RGD:736890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11930741 GMFG glia maturation factor gamma gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11930741 GMFG glia maturation factor gamma gene DOID:9352 type 2 diabetes mellitus ISO RGD:736890 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11930755 AGTRAP angiotensin II receptor associated protein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1350151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11930755 AGTRAP angiotensin II receptor associated protein gene DOID:0060158 acquired metabolic disease ISO RGD:1552153 D RGD:9068941 20220825 MouseDO 11930755 AGTRAP angiotensin II receptor associated protein gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1350151 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11930755 AGTRAP angiotensin II receptor associated protein gene DOID:10763 hypertension ISO RGD:1359346 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:18725581|REF_RGD_ID:2314351 11930755 AGTRAP angiotensin II receptor associated protein gene DOID:630 genetic disease ISO RGD:1350151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11930755 AGTRAP angiotensin II receptor associated protein gene DOID:9003936 Cardiomegaly ISO RGD:1359346 D RGD:9068941 20200609 RGD PMID:18725581|REF_RGD_ID:2314351 11930755 AGTRAP angiotensin II receptor associated protein gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1350151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 11930772 NPHP1 nephrocystin 1 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1317734 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis | ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia PMID:10620543|PMID:10712196|PMID:10839884|PMID:15138899|PMID:16155189|PMID:16199547|PMID:17576681|PMID:17855640|PMID:23559409|PMID:23661369|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26499951|PMID:26920127|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:30108342|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524 11930772 NPHP1 nephrocystin 1 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1317734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis | ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia PMID:10620543|PMID:10712196|PMID:10839884|PMID:15138899|PMID:16155189|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:23559409|PMID:23661369|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26499951|PMID:26920127|PMID:27004562|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:30108342|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524 11930772 NPHP1 nephrocystin 1 gene DOID:0050777 Joubert syndrome ISO RGD:1317734 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:23559409|PMID:28002029|PMID:28492532|PMID:34090716 11930772 NPHP1 nephrocystin 1 gene DOID:0050795 cone dystrophy ISO RGD:1317734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:28041643 11930772 NPHP1 nephrocystin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1317734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:24807792|PMID:25255310 11930772 NPHP1 nephrocystin 1 gene DOID:0080205 CAKUT ISO RGD:1317734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:30143558 11930772 NPHP1 nephrocystin 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1317734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 PMID:24746959|PMID:25741868|PMID:28492532 11930772 NPHP1 nephrocystin 1 gene DOID:0110999 Joubert syndrome 4 ISO RGD:1317734 D RGD:7240710 20180130 OMIM 11930772 NPHP1 nephrocystin 1 gene DOID:0110999 Joubert syndrome 4 ISO RGD:1317734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 4 PMID:10620543|PMID:10712196|PMID:10839884|PMID:15138899|PMID:16155189|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:23559409|PMID:23661369|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26499951|PMID:26920127|PMID:27004562|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:30108342|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524 11930772 NPHP1 nephrocystin 1 gene DOID:0111112 nephronophthisis 1 ISO RGD:1317734 D RGD:7240710 20180130 OMIM 11930772 NPHP1 nephrocystin 1 gene DOID:0111112 nephronophthisis 1 ISO RGD:1317734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: Nephronophthisis familial juvenile | ClinVar Annotator: match by term: juvenile nephronophthisis PMID:10620543|PMID:10712196|PMID:10839884|PMID:10980528|PMID:11168925|PMID:15138899|PMID:16155189|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:23559409|PMID:23661369|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26499951|PMID:26673778|PMID:26920127|PMID:27004562|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30108342|PMID:30773290|PMID:31822006|PMID:33193692|PMID:33532864|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524 11930772 NPHP1 nephrocystin 1 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1317734 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:25741868|PMID:28492532 11930772 NPHP1 nephrocystin 1 gene DOID:12712 nephronophthisis ISO RGD:1317734 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:10620543|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:23559409|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26673778|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30773290|PMID:8852662|PMID:9326933|PMID:9536098 11930772 NPHP1 nephrocystin 1 gene DOID:12712 nephronophthisis ISO RGD:1317734 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:10620543|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:23559409|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26673778|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30773290|PMID:8852662|PMID:9326933|PMID:9536098 11930772 NPHP1 nephrocystin 1 gene DOID:12712 nephronophthisis ISO RGD:1317734 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:10620543|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:23559409|PMID:23661369|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26499951|PMID:26673778|PMID:26920127|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30108342|PMID:30773290|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098 11930772 NPHP1 nephrocystin 1 gene DOID:12712 nephronophthisis ISO RGD:1317734 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:10620543|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:23559409|PMID:23661369|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25268133|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26499951|PMID:26673778|PMID:26920127|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30108342|PMID:30773290|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098 11930772 NPHP1 nephrocystin 1 gene DOID:12712 nephronophthisis ISO RGD:1317734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:10620543|PMID:10712196|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16155189|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:19755384|PMID:23559409|PMID:23661369|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26499951|PMID:26673778|PMID:26920127|PMID:27004562|PMID:27491411|PMID:27806791|PMID:28002029|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30108342|PMID:30773290|PMID:31822006|PMID:32173348|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524 11930772 NPHP1 nephrocystin 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1317734 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:25741868|PMID:28492532 11930772 NPHP1 nephrocystin 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1317734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:10839884|PMID:15138899|PMID:25741868|PMID:28492532 11930772 NPHP1 nephrocystin 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1316858|RGD:732435|RGD:1319511|RGD:1603660 D RGD:9068941 20200609 RGD PMID:24746959|REF_RGD_ID:11352646 11930772 NPHP1 nephrocystin 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605944 D RGD:9068941 20200609 RGD PMID:24746959|REF_RGD_ID:11352646 11930772 NPHP1 nephrocystin 1 gene DOID:557 kidney disease ISO RGD:1317734 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 11930772 NPHP1 nephrocystin 1 gene DOID:630 genetic disease ISO RGD:1317734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16762963|PMID:18076122|PMID:23559409|PMID:23661369|PMID:24033266|PMID:25268133|PMID:25741868|PMID:26499951|PMID:26920127|PMID:27491411|PMID:28492532|PMID:28624958|PMID:30773290|PMID:31822006|PMID:33193692 11930772 NPHP1 nephrocystin 1 gene DOID:9002789 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE ISO RGD:1317734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE PMID:24746959|PMID:25741868|PMID:28492532 11930772 NPHP1 nephrocystin 1 gene DOID:9004365 Senior-Loken Syndrome 1 ISO RGD:1317734 D RGD:7240710 20190327 OMIM 11930772 NPHP1 nephrocystin 1 gene DOID:9004365 Senior-Loken Syndrome 1 ISO RGD:1317734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 1 PMID:10620543|PMID:10712196|PMID:10839884|PMID:15138899|PMID:16155189|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:23559409|PMID:23661369|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26499951|PMID:26920127|PMID:27004562|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:30108342|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524 11930810 ASTN1 astrotactin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1602904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11930810 ASTN1 astrotactin 1 gene DOID:630 genetic disease ISO RGD:1602904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11930810 ASTN1 astrotactin 1 gene DOID:9000998 Brain Injuries ISO RGD:1602904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14499481 11930810 ASTN1 astrotactin 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1602904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11930810 ASTN1 astrotactin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11930845 CDK14 cyclin dependent kinase 14 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11930845 CDK14 cyclin dependent kinase 14 gene DOID:630 genetic disease ISO RGD:1313632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11930845 CDK14 cyclin dependent kinase 14 gene DOID:684 hepatocellular carcinoma ISO RGD:1313632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22922871 11930870 UBE4B ubiquitination factor E4B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11930870 UBE4B ubiquitination factor E4B gene DOID:0060224 atrial fibrillation ISO RGD:1312355 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 11930870 UBE4B ubiquitination factor E4B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1312355 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11930870 UBE4B ubiquitination factor E4B gene DOID:0081292 traumatic brain injury ISO RGD:1312355 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27822499 11930870 UBE4B ubiquitination factor E4B gene DOID:0111936 immunodeficiency 14 ISO RGD:1312355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 11930870 UBE4B ubiquitination factor E4B gene DOID:630 genetic disease ISO RGD:1312355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11930870 UBE4B ubiquitination factor E4B gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:1312355 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27822499 11930870 UBE4B ubiquitination factor E4B gene DOID:9002498 Wallerian Degeneration ISO RGD:1312355 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27822499 11930870 UBE4B ubiquitination factor E4B gene DOID:9008582 Developmental Disease ISO RGD:1312355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11930907 COG5 component of oligomeric golgi complex 5 gene DOID:0060224 atrial fibrillation ISO RGD:1319696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 11930907 COG5 component of oligomeric golgi complex 5 gene DOID:0070261 congenital disorder of glycosylation type IIi ISO RGD:1319696 D RGD:7240710 20180130 OMIM 11930907 COG5 component of oligomeric golgi complex 5 gene DOID:0070261 congenital disorder of glycosylation type IIi ISO RGD:1319696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG IIi | ClinVar Annotator: match by term: COG5-CDG PMID:16199547|PMID:17576681|PMID:19690088|PMID:23228021|PMID:23430875|PMID:24033266|PMID:25331899|PMID:25640679|PMID:25741868|PMID:28492532|PMID:28567303|PMID:28708303|PMID:29878199|PMID:31175295|PMID:31572517|PMID:32174980|PMID:33277529|PMID:9536098 11930907 COG5 component of oligomeric golgi complex 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11930907 COG5 component of oligomeric golgi complex 5 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1319696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:28492532 11930907 COG5 component of oligomeric golgi complex 5 gene DOID:630 genetic disease ISO RGD:1319696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11930907 COG5 component of oligomeric golgi complex 5 gene DOID:9006549 Enterovirus Infections ISO RGD:1319696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28446605 11930933 DPP6 dipeptidyl peptidase like 6 gene DOID:0060041 autism spectrum disorder ISO RGD:68590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18252227|PMID:20844286 11930933 DPP6 dipeptidyl peptidase like 6 gene DOID:0060319 cardiac arrest ISO RGD:68590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest 11930933 DPP6 dipeptidyl peptidase like 6 gene DOID:0070063 autosomal dominant intellectual developmental disorder 33 ISO RGD:68590 D RGD:7240710 20180130 OMIM 11930933 DPP6 dipeptidyl peptidase like 6 gene DOID:0070063 autosomal dominant intellectual developmental disorder 33 ISO RGD:68590 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 33 PMID:23832105|PMID:25741868|PMID:34008892 11930933 DPP6 dipeptidyl peptidase like 6 gene DOID:1059 intellectual disability ISO RGD:68590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11930933 DPP6 dipeptidyl peptidase like 6 gene DOID:12377 spinal muscular atrophy susceptibility ISO RGD:68590 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs10260404) (human) PMID:19332697|REF_RGD_ID:5687182 11930933 DPP6 dipeptidyl peptidase like 6 gene DOID:12849 autistic disorder ISO RGD:68590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11930933 DPP6 dipeptidyl peptidase like 6 gene DOID:12930 dilated cardiomyopathy ISO RGD:68590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy 11930933 DPP6 dipeptidyl peptidase like 6 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:68590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18084291 11930933 DPP6 dipeptidyl peptidase like 6 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:68590 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs10260404 (human) PMID:18708572|REF_RGD_ID:5687188 11930933 DPP6 dipeptidyl peptidase like 6 gene DOID:332 amyotrophic lateral sclerosis no_association ISO RGD:68590 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs10260404 (human) PMID:20137488|REF_RGD_ID:5687181 11930933 DPP6 dipeptidyl peptidase like 6 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:68590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 11930933 DPP6 dipeptidyl peptidase like 6 gene DOID:5419 schizophrenia ISO RGD:68590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11930933 DPP6 dipeptidyl peptidase like 6 gene DOID:9002426 Ventricular Fibrillation, Paroxysmal Familial, 2 ISO RGD:68590 D RGD:7240710 20180130 OMIM 11930933 DPP6 dipeptidyl peptidase like 6 gene DOID:9002426 Ventricular Fibrillation, Paroxysmal Familial, 2 ISO RGD:68590 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, 2 PMID:19285295|PMID:25741868 11930933 DPP6 dipeptidyl peptidase like 6 gene DOID:9004416 Paroxysmal Ventricular Fibrillation ISO RGD:68590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11930933 DPP6 dipeptidyl peptidase like 6 gene DOID:9004416 Paroxysmal Ventricular Fibrillation ISO RGD:68590 D RGD:9068941 20200609 RGD PMID:19285295|REF_RGD_ID:5687186 11930933 DPP6 dipeptidyl peptidase like 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 11930933 DPP6 dipeptidyl peptidase like 6 gene DOID:9005141 Ventricular Tachycardia ISO RGD:68590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia 11930933 DPP6 dipeptidyl peptidase like 6 gene DOID:9007925 Sudden Cardiac Death ISO RGD:68590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death 11930933 DPP6 dipeptidyl peptidase like 6 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:68590 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:25741868 11930963 IFNG interferon gamma gene DOID:0040084 Streptococcus pneumonia ISO RGD:737488 D RGD:9068941 20201117 RGD protein:increased expression:lung,natural killer cell (mouse) PMID:21887255|REF_RGD_ID:40818252 11930963 IFNG interferon gamma gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 11930963 IFNG interferon gamma gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23962110 11930963 IFNG interferon gamma gene DOID:0050523 adult T-cell leukemia/lymphoma treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:8800741|REF_RGD_ID:10755707 11930963 IFNG interferon gamma gene DOID:0050589 inflammatory bowel disease treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:31062617|REF_RGD_ID:14975125 11930963 IFNG interferon gamma gene DOID:0050700 cardiomyopathy ISO RGD:737488 D RGD:9068941 20220825 MouseDO 11930963 IFNG interferon gamma gene DOID:0050855 renal fibrosis no_association ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:8289579|REF_RGD_ID:10755751 11930963 IFNG interferon gamma gene DOID:0050855 renal fibrosis treatment ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:10594787|REF_RGD_ID:10755746 11930963 IFNG interferon gamma gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:2866 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:17338814|REF_RGD_ID:8662972 11930963 IFNG interferon gamma gene DOID:0050902 medulloblastoma ISO RGD:737488 D RGD:9068941 20220825 MouseDO OMIM:155255 11930963 IFNG interferon gamma gene DOID:0060180 colitis ISO RGD:732457 D RGD:9068941 20220114 RGD PMID:16717119|REF_RGD_ID:150573704 11930963 IFNG interferon gamma gene DOID:0060180 colitis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24548422 11930963 IFNG interferon gamma gene DOID:0060318 acute promyelocytic leukemia ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22617429 11930963 IFNG interferon gamma gene DOID:0060319 cardiac arrest ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9806674 11930963 IFNG interferon gamma gene DOID:0060704 lymphoproliferative syndrome ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22617429 11930963 IFNG interferon gamma gene DOID:0080074 neural tube defect ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17075842 11930963 IFNG interferon gamma gene DOID:0080158 herpes simplex virus keratitis ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:12162877|REF_RGD_ID:8157603 11930963 IFNG interferon gamma gene DOID:0080162 lupus nephritis ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased expression:serum,urine PMID:22764573|REF_RGD_ID:6893369 11930963 IFNG interferon gamma gene DOID:0080162 lupus nephritis ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased processing:kidney PMID:29925830|REF_RGD_ID:14974252 11930963 IFNG interferon gamma gene DOID:0080162 lupus nephritis ISO RGD:737487 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:31182691 11930963 IFNG interferon gamma gene DOID:0080199 colorectal carcinoma ISO RGD:732457 D RGD:9068941 20220114 RGD PMID:16717119|REF_RGD_ID:150573704 11930963 IFNG interferon gamma gene DOID:0080325 tuberous sclerosis 2 ISO RGD:737487 D RGD:7240710 20180130 OMIM 11930963 IFNG interferon gamma gene DOID:0080545 hyper IgE syndrome ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16112032 11930963 IFNG interferon gamma gene DOID:0080547 non-alcoholic steatohepatitis ameliorates ISO RGD:737488 D RGD:9068941 20210702 RGD PMID:28100771|REF_RGD_ID:127285675 11930963 IFNG interferon gamma gene DOID:0080599 Coronavirus infectious disease ISO RGD:737488 D RGD:9068941 20200618 RGD PMID:19906920|REF_RGD_ID:4891446 11930963 IFNG interferon gamma gene DOID:0080600 COVID-19 ISO RGD:737487 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11930963 IFNG interferon gamma gene DOID:0080600 COVID-19 ISO RGD:737487 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 11930963 IFNG interferon gamma gene DOID:0080600 COVID-19 severity ISO RGD:737487 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 11930963 IFNG interferon gamma gene DOID:0080642 Middle East respiratory syndrome treatment ISO RGD:737488 D RGD:9068941 20200625 RGD PMID:30634407|REF_RGD_ID:30309958 11930963 IFNG interferon gamma gene DOID:0080745 polymyositis ISO RGD:737487 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:19953283|REF_RGD_ID:7794747 11930963 IFNG interferon gamma gene DOID:0081120 Graves ophthalmopathy ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:8444271|REF_RGD_ID:7794734 11930963 IFNG interferon gamma gene DOID:0081267 graft-versus-host disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22077062 11930963 IFNG interferon gamma gene DOID:0081267 graft-versus-host disease susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:repeats:intron: PMID:16409297|REF_RGD_ID:10755684 11930963 IFNG interferon gamma gene DOID:0081267 graft-versus-host disease susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD associated with Cytomegalovirus Infections; DNA:repeats:intron: PMID:19747638|REF_RGD_ID:10755687 11930963 IFNG interferon gamma gene DOID:0112006 immunodeficiency 69 ISO RGD:737487 D RGD:7240710 20200812 OMIM 11930963 IFNG interferon gamma gene DOID:0112006 immunodeficiency 69 ISO RGD:737487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 69 PMID:24033266|PMID:25741868|PMID:32163377 11930963 IFNG interferon gamma gene DOID:10003 sensorineural hearing loss ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:15937357|REF_RGD_ID:7987908 11930963 IFNG interferon gamma gene DOID:10003 sensorineural hearing loss ISO RGD:737487 D RGD:9068941 20200609 RGD associated with Hearing Loss, Sensorineural;protein:increased expression:serum: PMID:19684145|REF_RGD_ID:8142347 11930963 IFNG interferon gamma gene DOID:10223 dermatomyositis ISO RGD:737487 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:19953283|REF_RGD_ID:7794747 11930963 IFNG interferon gamma gene DOID:10457 Legionnaires' disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11349020 11930963 IFNG interferon gamma gene DOID:10588 adrenoleukodystrophy ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16319717 11930963 IFNG interferon gamma gene DOID:10608 celiac disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 11930963 IFNG interferon gamma gene DOID:10608 celiac disease ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:26440733|REF_RGD_ID:14974259 11930963 IFNG interferon gamma gene DOID:1074 kidney failure ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3091246|PMID:8289579 11930963 IFNG interferon gamma gene DOID:10754 otitis media ISO RGD:737487 D RGD:9068941 20200609 RGD associated with adenoidal hypertrophy; protein:decreased expression:T cell: PMID:18266836|REF_RGD_ID:7987910 11930963 IFNG interferon gamma gene DOID:10754 otitis media ISO RGD:737488 D RGD:9068941 20200609 RGD associated with Pneumococcal infections; PMID:16730398|REF_RGD_ID:8142343 11930963 IFNG interferon gamma gene DOID:10952 nephritis ISO RGD:737487 D RGD:9068941 20200609 RGD associated with bacterial infection;protein:increased expression:serum PMID:22752353|REF_RGD_ID:6893461 11930963 IFNG interferon gamma gene DOID:11054 urinary bladder cancer ISO RGD:737487 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:22906662|REF_RGD_ID:6893349 11930963 IFNG interferon gamma gene DOID:11054 urinary bladder cancer treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:11219496|REF_RGD_ID:8157619 11930963 IFNG interferon gamma gene DOID:11077 brucellosis treatment ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:27916101|REF_RGD_ID:14974260 11930963 IFNG interferon gamma gene DOID:11121 pulpitis ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:12017181|REF_RGD_ID:10755771 11930963 IFNG interferon gamma gene DOID:1115 sarcoma ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9794839 11930963 IFNG interferon gamma gene DOID:11204 allergic conjunctivitis ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:12234900|REF_RGD_ID:8142386 11930963 IFNG interferon gamma gene DOID:11204 allergic conjunctivitis ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:16123425|REF_RGD_ID:8142391 11930963 IFNG interferon gamma gene DOID:11263 chlamydia ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19203382 11930963 IFNG interferon gamma gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome severity ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22613426|REF_RGD_ID:6893374 11930963 IFNG interferon gamma gene DOID:11406 choroiditis ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:10227812|REF_RGD_ID:8157614 11930963 IFNG interferon gamma gene DOID:11506 suppurative otitis media disease_progression ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:19640314|REF_RGD_ID:8142346 11930963 IFNG interferon gamma gene DOID:11832 visual epilepsy ISO RGD:2866 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus: PMID:19944569|REF_RGD_ID:10755768 11930963 IFNG interferon gamma gene DOID:12030 panuveitis ISO RGD:2866 D RGD:9068941 20200609 RGD protein:increased expression:iris neuron PMID:9797675|REF_RGD_ID:8142379 11930963 IFNG interferon gamma gene DOID:1205 allergic disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10886234|PMID:21625544 11930963 IFNG interferon gamma gene DOID:12134 factor VIII deficiency treatment ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:SNP: :+874 A>T (human) PMID:25930091|REF_RGD_ID:11055683 11930963 IFNG interferon gamma gene DOID:12140 Chagas disease ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:10684988|REF_RGD_ID:10755744 11930963 IFNG interferon gamma gene DOID:12236 primary biliary cholangitis ISO RGD:737487 D RGD:9068941 20200820 RGD mRNA:increased expression:liver PMID:17158635|REF_RGD_ID:38501106 11930963 IFNG interferon gamma gene DOID:12297 Vogt-Koyanagi-Harada disease ISO RGD:737487 D RGD:9068941 20200609 RGD associated with uveitis;protein:increased expression:aqueous humor: PMID:21334264|REF_RGD_ID:8142356 11930963 IFNG interferon gamma gene DOID:12306 vitiligo onset ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:rs2430561(human) PMID:23777204|REF_RGD_ID:8157616 11930963 IFNG interferon gamma gene DOID:12306 vitiligo susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:repeats:intron:rs3138557(human) PMID:23777204|REF_RGD_ID:8157616 11930963 IFNG interferon gamma gene DOID:12361 Graves' disease ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:2125901|REF_RGD_ID:8142373 11930963 IFNG interferon gamma gene DOID:12361 Graves' disease ISO RGD:737487 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 11930963 IFNG interferon gamma gene DOID:12361 Graves' disease ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:15544617|REF_RGD_ID:8157604 11930963 IFNG interferon gamma gene DOID:12361 Graves' disease susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:microsatellite repeats:intron: PMID:9848715|REF_RGD_ID:8142372 11930963 IFNG interferon gamma gene DOID:12361 Graves' disease susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:+874A>T(human) PMID:16970687|REF_RGD_ID:8157599 11930963 IFNG interferon gamma gene DOID:12361 Graves' disease treatment ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:repeats:intron: PMID:15068623|REF_RGD_ID:8142393 11930963 IFNG interferon gamma gene DOID:12365 malaria ISO RGD:737488 D RGD:9068941 20220825 MouseDO OMIM:609148 | OMIM:611162 11930963 IFNG interferon gamma gene DOID:12449 aplastic anemia ISO RGD:737487 D RGD:7240710 20180130 OMIM 11930963 IFNG interferon gamma gene DOID:12449 aplastic anemia ISO RGD:737487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aplastic anemia 11930963 IFNG interferon gamma gene DOID:12449 aplastic anemia susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:polymorphism: : 874A>T(human) PMID:18426658|REF_RGD_ID:10755710 11930963 IFNG interferon gamma gene DOID:12449 aplastic anemia susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:repeats:intron: PMID:15327519|REF_RGD_ID:10755688 11930963 IFNG interferon gamma gene DOID:12449 aplastic anemia treatment ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:repeats,haplotype:intron: -2,353 A>T(human) PMID:20953611|REF_RGD_ID:10755690 11930963 IFNG interferon gamma gene DOID:1252 trichuriasis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864659 11930963 IFNG interferon gamma gene DOID:12704 ataxia telangiectasia ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:6432389|REF_RGD_ID:8693328 11930963 IFNG interferon gamma gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937650 11930963 IFNG interferon gamma gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:737487 D RGD:9068941 20200609 RGD associated with Otitis media;protein:increased expression:serum: PMID:19352211|REF_RGD_ID:8142352 11930963 IFNG interferon gamma gene DOID:12849 autistic disorder ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16360218 11930963 IFNG interferon gamma gene DOID:12894 Sjogren's syndrome ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:28421993|REF_RGD_ID:14975117 11930963 IFNG interferon gamma gene DOID:12894 Sjogren's syndrome ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:15584966|REF_RGD_ID:8142390 11930963 IFNG interferon gamma gene DOID:13141 uveitis ISO RGD:737487 D RGD:9068941 20200609 RGD associated with Behcet's disease PMID:29534057|REF_RGD_ID:14974251 11930963 IFNG interferon gamma gene DOID:13141 uveitis ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor,serum PMID:10865312|REF_RGD_ID:7365086 11930963 IFNG interferon gamma gene DOID:13141 uveitis ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:15875359|REF_RGD_ID:8142394 11930963 IFNG interferon gamma gene DOID:13141 uveitis treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:15875359|REF_RGD_ID:8142394 11930963 IFNG interferon gamma gene DOID:13241 Behcet's disease ISO RGD:737487 D RGD:9068941 20200609 RGD associated with Uveitis; protein:increased expression:aqueous humor: PMID:21334264|REF_RGD_ID:8142356 11930963 IFNG interferon gamma gene DOID:13241 Behcet's disease ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:2154346|REF_RGD_ID:8142377 11930963 IFNG interferon gamma gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:737488 D RGD:9068941 20200609 RGD mRNA:increased expression:lung: PMID:7935058|REF_RGD_ID:10755754 11930963 IFNG interferon gamma gene DOID:13375 temporal arteritis severity ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:repeats:intron: PMID:15675129|REF_RGD_ID:8157621 11930963 IFNG interferon gamma gene DOID:13515 tuberous sclerosis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16845661 11930963 IFNG interferon gamma gene DOID:13636 Fanconi anemia ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:24021704|REF_RGD_ID:11049161 11930963 IFNG interferon gamma gene DOID:1407 anterior uveitis ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:10227812|REF_RGD_ID:8157614 11930963 IFNG interferon gamma gene DOID:14115 toxic shock syndrome ISO RGD:737487 D RGD:9068941 20200806 RGD protein:increased expression:plasma PMID:25403265|REF_RGD_ID:38455982 11930963 IFNG interferon gamma gene DOID:14176 selective IgG deficiency disease ISO RGD:737487 D RGD:9068941 20200609 RGD mRNA:decreased expression:peripheral blood leukocyte: PMID:9042436|REF_RGD_ID:10755693 11930963 IFNG interferon gamma gene DOID:14566 disease of cellular proliferation ISO RGD:737488 D RGD:9068941 20200609 RGD DNA:mutations:multiple: Csf2,Ifng,Il3 PMID:21537082|REF_RGD_ID:5686773 11930963 IFNG interferon gamma gene DOID:1459 hypothyroidism treatment ISO RGD:2866 D RGD:9068941 20200903 RGD PMID:29896255|REF_RGD_ID:38549578 11930963 IFNG interferon gamma gene DOID:1532 pleural disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21357438 11930963 IFNG interferon gamma gene DOID:1557 hypersensitivity reaction type III disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1825860 11930963 IFNG interferon gamma gene DOID:1562 chromoblastomycosis treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:29481557|REF_RGD_ID:14975102 11930963 IFNG interferon gamma gene DOID:1579 respiratory system disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937650 11930963 IFNG interferon gamma gene DOID:1612 breast cancer susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:repeats:intron: PMID:15900487|REF_RGD_ID:8157615 11930963 IFNG interferon gamma gene DOID:1790 malignant mesothelioma ISO RGD:737487 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 11930963 IFNG interferon gamma gene DOID:1793 pancreatic cancer ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19152246|REF_RGD_ID:2317258 11930963 IFNG interferon gamma gene DOID:1883 hepatitis C ISO RGD:737487 D RGD:7240710 20230505 OMIM 11930963 IFNG interferon gamma gene DOID:1883 hepatitis C ISO RGD:737487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatitis C virus infection, response to therapy of PMID:17215375 11930963 IFNG interferon gamma gene DOID:1884 viral hepatitis ISO RGD:737487 D RGD:9068941 20200820 RGD mRNA:increased expression:liver PMID:17158635|REF_RGD_ID:38501106 11930963 IFNG interferon gamma gene DOID:1909 melanoma ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9794839 11930963 IFNG interferon gamma gene DOID:1936 atherosclerosis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9169506 11930963 IFNG interferon gamma gene DOID:2043 hepatitis B ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15994231|PMID:20610715 11930963 IFNG interferon gamma gene DOID:2048 autoimmune hepatitis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 11930963 IFNG interferon gamma gene DOID:2123 tularemia ISO RGD:737488 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:26853540|REF_RGD_ID:14974256 11930963 IFNG interferon gamma gene DOID:2237 hepatitis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3091246 11930963 IFNG interferon gamma gene DOID:2237 hepatitis ISO RGD:737488 D RGD:9068941 20220825 MouseDO 11930963 IFNG interferon gamma gene DOID:2377 multiple sclerosis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23517930 11930963 IFNG interferon gamma gene DOID:2377 multiple sclerosis susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:repeat:intron: (human) PMID:9818947|REF_RGD_ID:1358738 11930963 IFNG interferon gamma gene DOID:2556 relapsing polychondritis ISO RGD:737488 D RGD:9068941 20200609 RGD protein:increased expression:ear PMID:17606507|REF_RGD_ID:6483833 11930963 IFNG interferon gamma gene DOID:2799 bronchiolitis obliterans ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16137903 11930963 IFNG interferon gamma gene DOID:2841 asthma ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:20817868|REF_RGD_ID:4145651 11930963 IFNG interferon gamma gene DOID:2841 asthma ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:19542437|REF_RGD_ID:5128479 11930963 IFNG interferon gamma gene DOID:2841 asthma resistance ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:20953328|REF_RGD_ID:4145525 11930963 IFNG interferon gamma gene DOID:2841 asthma treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:12396623|REF_RGD_ID:10755706 11930963 IFNG interferon gamma gene DOID:2862 glucosephosphate dehydrogenase deficiency ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:SNP: :874A>T (human) PMID:15718915|REF_RGD_ID:11049178 11930963 IFNG interferon gamma gene DOID:289 endometriosis ISO RGD:737487 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:29477012|REF_RGD_ID:14974258 11930963 IFNG interferon gamma gene DOID:2921 glomerulonephritis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1825860 11930963 IFNG interferon gamma gene DOID:2921 glomerulonephritis ISO RGD:737487 D RGD:9068941 20200609 RGD associated with kidney transplantation;mRNA:increased expression:kidney PMID:21546865|REF_RGD_ID:6893462 11930963 IFNG interferon gamma gene DOID:2921 glomerulonephritis ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:22495297|REF_RGD_ID:6893377 11930963 IFNG interferon gamma gene DOID:2945 severe acute respiratory syndrome ISO RGD:737487 D RGD:9068941 20200702 RGD DNA:SNP:intron:+874A>T (rs2430561)(human) PMID:16672072|REF_RGD_ID:32716398 11930963 IFNG interferon gamma gene DOID:2945 severe acute respiratory syndrome ISO RGD:737487 D RGD:9068941 20200702 RGD protein:increased expression:peripheral blood mononuclear cells (human) PMID:16781892|PMID:17872527|PMID:19526193|REF_RGD_ID:32716396|REF_RGD_ID:32716397|REF_RGD_ID:32716400 11930963 IFNG interferon gamma gene DOID:2945 severe acute respiratory syndrome ISO RGD:737487 D RGD:9068941 20200702 RGD protein:increased expression:serum (human) PMID:15602737|REF_RGD_ID:32716399 11930963 IFNG interferon gamma gene DOID:2945 severe acute respiratory syndrome susceptibility ISO RGD:737487 D RGD:9068941 20200618 RGD DNA:polymorphism:cds:+874A>T(human) PMID:19258635|REF_RGD_ID:4891448 11930963 IFNG interferon gamma gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:737487 D RGD:9068941 20200702 RGD PMID:15865221|REF_RGD_ID:33769580 11930963 IFNG interferon gamma gene DOID:3042 allergic contact dermatitis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11312644|PMID:12484431|PMID:15347381 11930963 IFNG interferon gamma gene DOID:3070 high grade glioma ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:10078962|REF_RGD_ID:727266 11930963 IFNG interferon gamma gene DOID:3265 chronic granulomatous disease ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:22883043|REF_RGD_ID:6893353 11930963 IFNG interferon gamma gene DOID:3310 atopic dermatitis ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:22101570|REF_RGD_ID:8157618 11930963 IFNG interferon gamma gene DOID:3310 atopic dermatitis ISO RGD:737487 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:18249437|PMID:33274957 11930963 IFNG interferon gamma gene DOID:3492 mixed connective tissue disease ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19684145|REF_RGD_ID:8142347 11930963 IFNG interferon gamma gene DOID:3611 acute retinal necrosis syndrome ISO RGD:737487 D RGD:9068941 20200609 RGD associated with Herpes Zoster;protein:increased expression:vitreous humor: PMID:12928903|REF_RGD_ID:8142380 11930963 IFNG interferon gamma gene DOID:399 tuberculosis ISO RGD:737487 D RGD:7240710 20230505 OMIM 11930963 IFNG interferon gamma gene DOID:399 tuberculosis ISO RGD:737487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against PMID:10663562|PMID:11053629|PMID:12788577|PMID:18414898 11930963 IFNG interferon gamma gene DOID:417 autoimmune disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19077085|PMID:9647229 11930963 IFNG interferon gamma gene DOID:418 systemic scleroderma treatment ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:1418004|REF_RGD_ID:8157622 11930963 IFNG interferon gamma gene DOID:4481 allergic rhinitis treatment ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:18510219|REF_RGD_ID:10755770 11930963 IFNG interferon gamma gene DOID:4481 allergic rhinitis treatment ISO RGD:737487 D RGD:9068941 20200609 RGD associated with Asthma PMID:12787306|REF_RGD_ID:7829803 11930963 IFNG interferon gamma gene DOID:4692 endophthalmitis ISO RGD:2866 D RGD:9068941 20200609 RGD protein:increased expression:vitreous: PMID:16544114|REF_RGD_ID:7829753 11930963 IFNG interferon gamma gene DOID:5082 liver cirrhosis ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:12389079|REF_RGD_ID:10755749 11930963 IFNG interferon gamma gene DOID:5082 liver cirrhosis ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:21664391|REF_RGD_ID:6893452 11930963 IFNG interferon gamma gene DOID:5199 ureteral obstruction ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:21216449|REF_RGD_ID:6893456 11930963 IFNG interferon gamma gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:737487 D RGD:7240710 20230505 OMIM 11930963 IFNG interferon gamma gene DOID:530 eyelid disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17075842 11930963 IFNG interferon gamma gene DOID:552 pneumonia ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11930963 IFNG interferon gamma gene DOID:576 proteinuria ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3091246|PMID:8289579 11930963 IFNG interferon gamma gene DOID:5773 oral submucous fibrosis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 11930963 IFNG interferon gamma gene DOID:6000 congestive heart failure ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20938210|PMID:3091246 11930963 IFNG interferon gamma gene DOID:6132 bronchitis resistance ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:20953328|REF_RGD_ID:4145525 11930963 IFNG interferon gamma gene DOID:630 genetic disease ISO RGD:737487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11930963 IFNG interferon gamma gene DOID:635 acquired immunodeficiency syndrome ISO RGD:737487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, rapid progression to PMID:12854077 11930963 IFNG interferon gamma gene DOID:639 acute disseminated encephalomyelitis disease_progression ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased expression:T cell: PMID:11063842|REF_RGD_ID:8157598 11930963 IFNG interferon gamma gene DOID:684 hepatocellular carcinoma ISO RGD:737488 D RGD:9068941 20210423 RGD mRNA:increased expression:liver (mouse) PMID:26569409|REF_RGD_ID:11344640 11930963 IFNG interferon gamma gene DOID:7148 rheumatoid arthritis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22450443 11930963 IFNG interferon gamma gene DOID:7148 rheumatoid arthritis ISO RGD:737487 D RGD:9068941 20221117 RGD mRNA:increased expression:synovial (human) PMID:22660635|REF_RGD_ID:155663483 11930963 IFNG interferon gamma gene DOID:7148 rheumatoid arthritis treatment ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:1417133|REF_RGD_ID:8157623 11930963 IFNG interferon gamma gene DOID:7188 autoimmune thyroiditis ISO RGD:2866 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid: PMID:10560963|REF_RGD_ID:10755769 11930963 IFNG interferon gamma gene DOID:7693 abdominal aortic aneurysm ISO RGD:2866 D RGD:9068941 20201002 RGD protein:increased expression:serum (rat) PMID:15238617|REF_RGD_ID:1302825 11930963 IFNG interferon gamma gene DOID:813 septic arthritis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19203382 11930963 IFNG interferon gamma gene DOID:8283 peritonitis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19804847 11930963 IFNG interferon gamma gene DOID:8283 peritonitis treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:28593696|REF_RGD_ID:14974254 11930963 IFNG interferon gamma gene DOID:83 cataract ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:8188461|REF_RGD_ID:8157612 11930963 IFNG interferon gamma gene DOID:8337 appendicitis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367942 11930963 IFNG interferon gamma gene DOID:850 lung disease ISO RGD:737487 D RGD:9068941 20200806 RGD associated with HTLV-I Infections;protein:increased expression:bronchoalveolar lavage fluid: PMID:24292748|REF_RGD_ID:36947872 11930963 IFNG interferon gamma gene DOID:8692 myeloid leukemia treatment ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:20959405|REF_RGD_ID:10755686 11930963 IFNG interferon gamma gene DOID:874 bacterial pneumonia severity ISO RGD:737488 D RGD:9068941 20200820 RGD PMID:25398094|REF_RGD_ID:38501102 11930963 IFNG interferon gamma gene DOID:8778 Crohn's disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21829567 11930963 IFNG interferon gamma gene DOID:8778 Crohn's disease ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:28070144|REF_RGD_ID:14974261 11930963 IFNG interferon gamma gene DOID:9000099 Experimental Colitis ISO RGD:2866 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:15030379|REF_RGD_ID:10755756 11930963 IFNG interferon gamma gene DOID:9000099 Experimental Colitis ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:27498708|REF_RGD_ID:14975101 11930963 IFNG interferon gamma gene DOID:9000304 Manganese Poisoning ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18041089 11930963 IFNG interferon gamma gene DOID:9000469 Viral Myocarditis treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:11092674|REF_RGD_ID:13702913 11930963 IFNG interferon gamma gene DOID:9000499 Alcoholic Intoxication treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:9514301|REF_RGD_ID:10755766 11930963 IFNG interferon gamma gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:2866 D RGD:9068941 20200609 RGD mRNA:increased expression:lung: PMID:8690457|REF_RGD_ID:10755761 11930963 IFNG interferon gamma gene DOID:9000855 Experimental Radiation Injuries ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11121210 11930963 IFNG interferon gamma gene DOID:9000972 Fever ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18282668|PMID:3091246 11930963 IFNG interferon gamma gene DOID:9001204 Dyspepsia treatment ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:28854971|REF_RGD_ID:14975120 11930963 IFNG interferon gamma gene DOID:9001415 Mycobacterium Infections ISO RGD:2866 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:lung PMID:19060451|REF_RGD_ID:2311490 11930963 IFNG interferon gamma gene DOID:9001455 Intestinal Helminthiasis ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:29950724|REF_RGD_ID:14974257 11930963 IFNG interferon gamma gene DOID:9001472 Nasal Polyps ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa, tissue: PMID:9149164|REF_RGD_ID:8158035 11930963 IFNG interferon gamma gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12389079|PMID:15996030|PMID:16953842|PMID:17347453 11930963 IFNG interferon gamma gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737488 D RGD:9068941 20201023 RGD protein:increased expression:serum (mouse) PMID:28465467|REF_RGD_ID:39939037 11930963 IFNG interferon gamma gene DOID:9001708 Hemorrhagic Shock ISO RGD:2866 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19439114|REF_RGD_ID:2311495 11930963 IFNG interferon gamma gene DOID:9002165 Diabetic Nephropathies ISO RGD:737488 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney, T cell PMID:22286547|REF_RGD_ID:6893364 11930963 IFNG interferon gamma gene DOID:9002170 Experimental Neoplasms ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15711825 11930963 IFNG interferon gamma gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:polymorphism: :847A>T(human) PMID:19757192|REF_RGD_ID:10755703 11930963 IFNG interferon gamma gene DOID:9002315 Kidney Calculi ISO RGD:737488 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus; mRNA:increased expression:kidney PMID:21514417|REF_RGD_ID:6893463 11930963 IFNG interferon gamma gene DOID:9002457 Experimental Arthritis ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:12412757|REF_RGD_ID:2311498 11930963 IFNG interferon gamma gene DOID:9002457 Experimental Arthritis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19203382|PMID:22450443 11930963 IFNG interferon gamma gene DOID:9002457 Experimental Arthritis ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:7774621|REF_RGD_ID:10755750 11930963 IFNG interferon gamma gene DOID:9002605 Delayed Hypersensitivity ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:3139020|REF_RGD_ID:8157617 11930963 IFNG interferon gamma gene DOID:9002763 Experimental Autoimmune Encephalomyelitis disease_progression ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:15661899|REF_RGD_ID:7987912 11930963 IFNG interferon gamma gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:22896638|REF_RGD_ID:10755692 11930963 IFNG interferon gamma gene DOID:9002928 Colonic Neoplasms ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10866311 11930963 IFNG interferon gamma gene DOID:9002955 Nerve Degeneration ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15153526|PMID:16307444|PMID:19457078 11930963 IFNG interferon gamma gene DOID:9003566 Mesothelioma ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12768194 11930963 IFNG interferon gamma gene DOID:9004009 Reperfusion Injury ISO RGD:2866 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19514843|REF_RGD_ID:2308950 11930963 IFNG interferon gamma gene DOID:9004283 Transplant Rejection ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:22564629|REF_RGD_ID:7364833 11930963 IFNG interferon gamma gene DOID:9004484 Sepsis ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:27598601|REF_RGD_ID:14975121 11930963 IFNG interferon gamma gene DOID:9004484 Sepsis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9806674 11930963 IFNG interferon gamma gene DOID:9004484 Sepsis treatment ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:28711488|REF_RGD_ID:14974250 11930963 IFNG interferon gamma gene DOID:9004610 Acute Lung Injury ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:21767135|REF_RGD_ID:6480432 11930963 IFNG interferon gamma gene DOID:9004751 Nausea ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3091246 11930963 IFNG interferon gamma gene DOID:9005099 Salmonella Infections, Animal ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002714 11930963 IFNG interferon gamma gene DOID:9005172 Lung Neoplasms ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7614408 11930963 IFNG interferon gamma gene DOID:9005236 Drug Eruptions ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31150805 11930963 IFNG interferon gamma gene DOID:9005372 Inflammation ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21937650|PMID:22617429|PMID:23164921 11930963 IFNG interferon gamma gene DOID:9005372 Inflammation resistance ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:20953328|REF_RGD_ID:4145525 11930963 IFNG interferon gamma gene DOID:9005474 Experimental Sarcoma treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:2119881|REF_RGD_ID:10755752 11930963 IFNG interferon gamma gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2866 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:20213480|REF_RGD_ID:5147915 11930963 IFNG interferon gamma gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21340626 11930963 IFNG interferon gamma gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737488 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:18789669|REF_RGD_ID:2311492 11930963 IFNG interferon gamma gene DOID:9005749 Necrosis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10903806|PMID:10909967 11930963 IFNG interferon gamma gene DOID:9005930 Endotoxemia ISO RGD:2866 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:9195172|REF_RGD_ID:10755747 11930963 IFNG interferon gamma gene DOID:9006024 Hypotension ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3091246 11930963 IFNG interferon gamma gene DOID:9006190 Chronic Pancreatitis disease_progression ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:11345142|REF_RGD_ID:10755767 11930963 IFNG interferon gamma gene DOID:9006205 Animal Disease Models ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16845661 11930963 IFNG interferon gamma gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:28355607|REF_RGD_ID:14975115 11930963 IFNG interferon gamma gene DOID:9006449 Chills ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3091246 11930963 IFNG interferon gamma gene DOID:9006635 Hyponatremia ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3091246 11930963 IFNG interferon gamma gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:2866 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:eye: PMID:1572694|REF_RGD_ID:8142388 11930963 IFNG interferon gamma gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737487 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 11930963 IFNG interferon gamma gene DOID:9006941 Corneal Perforation ISO RGD:737488 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:corneal PMID:15832292|REF_RGD_ID:8157597 11930963 IFNG interferon gamma gene DOID:9007096 Stroke ISO RGD:737487 D RGD:9068941 20230225 RGD mRNA:decreased expression:lymphocyte PMID:31465536|REF_RGD_ID:156430320 11930963 IFNG interferon gamma gene DOID:9007355 Hashimoto Disease severity ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:+874A>T(human) PMID:16820703|REF_RGD_ID:8142375 11930963 IFNG interferon gamma gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12153990|PMID:21245496 11930963 IFNG interferon gamma gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:30013034|REF_RGD_ID:14975100 11930963 IFNG interferon gamma gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:737488 D RGD:9068941 20200828 RGD mRNA:altered expression:gastric antrum (mouse) PMID:29085807|REF_RGD_ID:38549349 11930963 IFNG interferon gamma gene DOID:9008163 Chronic Hepatitis B ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:26684441|REF_RGD_ID:14974255 11930963 IFNG interferon gamma gene DOID:9008163 Chronic Hepatitis B ISO RGD:737487 D RGD:9068941 20201023 RGD protein:decreased expression:serum (human) PMID:28465467|REF_RGD_ID:39939037 11930963 IFNG interferon gamma gene DOID:9008207 Chronic Thyroiditis susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:+874A>T(human) PMID:16970687|REF_RGD_ID:8157599 11930963 IFNG interferon gamma gene DOID:9008385 Vomiting ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3091246 11930963 IFNG interferon gamma gene DOID:9008821 Otitis Media with Effusion ISO RGD:737487 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:16055981|REF_RGD_ID:7987911 11930963 IFNG interferon gamma gene DOID:9008821 Otitis Media with Effusion ISO RGD:737488 D RGD:9068941 20200609 RGD protein:decreased expression:middle ear: PMID:15938212|REF_RGD_ID:8142354 11930963 IFNG interferon gamma gene DOID:9008865 Entamoebiasis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16374615 11930963 IFNG interferon gamma gene DOID:9008865 Entamoebiasis ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:29255076|REF_RGD_ID:14975099 11930963 IFNG interferon gamma gene DOID:9008939 Breast Neoplasms ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19446661 11930963 IFNG interferon gamma gene DOID:9065 leishmaniasis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16540374|PMID:17218153 11930963 IFNG interferon gamma gene DOID:9065 leishmaniasis ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:2145107|REF_RGD_ID:7829781 11930963 IFNG interferon gamma gene DOID:9074 systemic lupus erythematosus ISO RGD:737487 D RGD:9068941 20200609 RGD mRNA:increased expression:leukocyte,mononuclear PMID:22759859|REF_RGD_ID:6893373 11930963 IFNG interferon gamma gene DOID:9074 systemic lupus erythematosus ISO RGD:737487 D RGD:9068941 20221117 RGD mRNA:increased expression:kidney (human) PMID:22660635|REF_RGD_ID:155663483 11930963 IFNG interferon gamma gene DOID:9074 systemic lupus erythematosus ISO RGD:737488 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus PMID:29925830|REF_RGD_ID:14974252 11930963 IFNG interferon gamma gene DOID:9111 cutaneous leishmaniasis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20102417|PMID:8154019|PMID:9234779 11930963 IFNG interferon gamma gene DOID:9111 cutaneous leishmaniasis treatment ISO RGD:737488 D RGD:9068941 20201211 RGD PMID:27999013|REF_RGD_ID:40890273 11930963 IFNG interferon gamma gene DOID:9123 eczema herpeticum ISO RGD:737487 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:peripheral mononuclear cell: PMID:21458658|REF_RGD_ID:6480259 11930963 IFNG interferon gamma gene DOID:9123 eczema herpeticum susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:haplotype:: PMID:21458658|REF_RGD_ID:6480259 11930963 IFNG interferon gamma gene DOID:9146 visceral leishmaniasis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1901333|PMID:7854095 11930963 IFNG interferon gamma gene DOID:9146 visceral leishmaniasis treatment ISO RGD:737488 D RGD:9068941 20201211 RGD PMID:27999013|PMID:3104456|REF_RGD_ID:40890273|REF_RGD_ID:8158041 11930963 IFNG interferon gamma gene DOID:9155 mucocutaneous leishmaniasis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7854095 11930963 IFNG interferon gamma gene DOID:9201 lichen planus ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:3139020|REF_RGD_ID:8157617 11930963 IFNG interferon gamma gene DOID:9352 type 2 diabetes mellitus ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:18852529|REF_RGD_ID:2311491 11930963 IFNG interferon gamma gene DOID:936 brain disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18282668 11930963 IFNG interferon gamma gene DOID:9362 status asthmaticus resistance ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:20817868|REF_RGD_ID:4145651 11930963 IFNG interferon gamma gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:2866 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 11930963 IFNG interferon gamma gene DOID:9620 vesicoureteral reflux ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:polymorphism: : 874T>A (human) PMID:22906585|REF_RGD_ID:6893460 11930963 IFNG interferon gamma gene DOID:9743 diabetic neuropathy ISO RGD:737487 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :874A>T (human) PMID:19608431|REF_RGD_ID:2311489 11930963 IFNG interferon gamma gene DOID:9744 type 1 diabetes mellitus ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:8977415|REF_RGD_ID:10755748 11930963 IFNG interferon gamma gene DOID:9744 type 1 diabetes mellitus ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21340626 11930963 IFNG interferon gamma gene DOID:9744 type 1 diabetes mellitus ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:18644830|REF_RGD_ID:2311493 11930963 IFNG interferon gamma gene DOID:9744 type 1 diabetes mellitus ISO RGD:737488 D RGD:9068941 20220825 MouseDO OMIM:222100 11930963 IFNG interferon gamma gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:SNP: :rs2069727(human) PMID:21067287|REF_RGD_ID:10755691 11930963 IFNG interferon gamma gene DOID:9970 obesity ISO RGD:2866 D RGD:9068941 20200609 RGD associated with Asthma;protein:increased expression:serum PMID:19575934|REF_RGD_ID:2311494 11930963 Ifng interferon gamma gene DOID:10140 dry eye syndrome ISO RGD:737488 D RGD:9068941 20200609 RGD protein:increased expression:tear: PMID:17525184|REF_RGD_ID:8157601 11930963 Ifng interferon gamma gene DOID:8704 genital herpes ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:10366565|REF_RGD_ID:8158034 11930971 ZMYM6 zinc finger MYM-type containing 6 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1345857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11930971 ZMYM6 zinc finger MYM-type containing 6 gene DOID:630 genetic disease ISO RGD:1345857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11931007 MINDY3 MINDY lysine 48 deubiquitinase 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1320032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11931007 MINDY3 MINDY lysine 48 deubiquitinase 3 gene DOID:630 genetic disease ISO RGD:1320032 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11931007 MINDY3 MINDY lysine 48 deubiquitinase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11931052 KLF3 KLF transcription factor 3 gene DOID:630 genetic disease ISO RGD:1343244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11931068 ODAM odontogenic, ameloblast associated gene DOID:630 genetic disease ISO RGD:1603034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11931068 ODAM odontogenic, ameloblast associated gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1603034 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11931083 TNFRSF9 TNF receptor superfamily member 9 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1312546 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11931083 TNFRSF9 TNF receptor superfamily member 9 gene DOID:0080855 Parkinsonism ISO RGD:1312546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Juvenile 11931083 TNFRSF9 TNF receptor superfamily member 9 gene DOID:10608 celiac disease ISO RGD:1312546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 11931083 TNFRSF9 TNF receptor superfamily member 9 gene DOID:12930 dilated cardiomyopathy ISO RGD:1312546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 11931083 TNFRSF9 TNF receptor superfamily member 9 gene DOID:630 genetic disease ISO RGD:1312546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11931083 TNFRSF9 TNF receptor superfamily member 9 gene DOID:820 myocarditis ISO RGD:1312546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 11931083 TNFRSF9 TNF receptor superfamily member 9 gene DOID:9000217 Stomach Neoplasms ISO RGD:1312546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25279216 11931083 TNFRSF9 TNF receptor superfamily member 9 gene DOID:9002265 Kidney Neoplasms ISO RGD:1312546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25279216 11931083 TNFRSF9 TNF receptor superfamily member 9 gene DOID:9002928 Colonic Neoplasms ISO RGD:1312546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25279216 11931083 TNFRSF9 TNF receptor superfamily member 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11931083 TNFRSF9 TNF receptor superfamily member 9 gene DOID:9009044 Immunodeficiency 109 ISO RGD:1312546 D RGD:7240710 20230505 OMIM 11931083 TNFRSF9 TNF receptor superfamily member 9 gene DOID:9009044 Immunodeficiency 109 ISO RGD:1312546 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 109 with lymphoproliferation PMID:30872117 11931083 TNFRSF9 TNF receptor superfamily member 9 gene DOID:934 viral infectious disease ISO RGD:1312546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 11931090 CHST13 carbohydrate sulfotransferase 13 gene DOID:0060041 autism spectrum disorder ISO RGD:1347829 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11931090 CHST13 carbohydrate sulfotransferase 13 gene DOID:0080600 COVID-19 ISO RGD:1347829 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11931090 CHST13 carbohydrate sulfotransferase 13 gene DOID:630 genetic disease ISO RGD:1347829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11931090 CHST13 carbohydrate sulfotransferase 13 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 11931090 CHST13 carbohydrate sulfotransferase 13 gene DOID:9270 alkaptonuria ISO RGD:1347829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11931095 CDK18 cyclin dependent kinase 18 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1319906 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11931095 CDK18 cyclin dependent kinase 18 gene DOID:12849 autistic disorder ISO RGD:1319906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11931095 CDK18 cyclin dependent kinase 18 gene DOID:1540 parathyroid carcinoma ISO RGD:1319906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11931095 CDK18 cyclin dependent kinase 18 gene DOID:630 genetic disease ISO RGD:1319906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11931095 CDK18 cyclin dependent kinase 18 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1319906 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11931095 CDK18 cyclin dependent kinase 18 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11931127 FBXO7 F-box protein 7 gene DOID:0060372 Parkinson's disease 15 ISO RGD:1313800 D RGD:7240710 20180130 OMIM 11931127 FBXO7 F-box protein 7 gene DOID:0060372 Parkinson's disease 15 ISO RGD:1313800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinsonian-pyramidal syndrome PMID:17576681|PMID:18513678|PMID:19038853|PMID:20603184|PMID:21347293|PMID:23352116|PMID:23933751|PMID:24112787|PMID:25029497|PMID:25085748|PMID:25169713|PMID:25174650|PMID:25741868|PMID:26310625|PMID:26882974|PMID:27294386|PMID:27503909|PMID:28492532|PMID:30502028|PMID:9536098 11931127 FBXO7 F-box protein 7 gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1313800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 11931127 FBXO7 F-box protein 7 gene DOID:14330 Parkinson's disease ISO RGD:1313800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Recessive 11931127 FBXO7 F-box protein 7 gene DOID:630 genetic disease ISO RGD:1313800 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11931127 FBXO7 F-box protein 7 gene DOID:9001750 Glucose-Galactose Malabsorption ISO RGD:1313800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital glucose-galactose malabsorption PMID:28492532 11931144 HOXA4 homeobox A4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11931144 HOXA4 homeobox A4 gene DOID:630 genetic disease ISO RGD:736245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11931151 DNAJC11 DnaJ heat shock protein family (Hsp40) member C11 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1317094 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11931151 DNAJC11 DnaJ heat shock protein family (Hsp40) member C11 gene DOID:630 genetic disease ISO RGD:1317094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11931151 DNAJC11 DnaJ heat shock protein family (Hsp40) member C11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11931176 AKAP4 A-kinase anchoring protein 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11931176 AKAP4 A-kinase anchoring protein 4 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:732830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 11931176 AKAP4 A-kinase anchoring protein 4 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:732830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11931176 AKAP4 A-kinase anchoring protein 4 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:732830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11931176 AKAP4 A-kinase anchoring protein 4 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:732830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11931176 AKAP4 A-kinase anchoring protein 4 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:732830 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 11931176 AKAP4 A-kinase anchoring protein 4 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:732830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 11931176 AKAP4 A-kinase anchoring protein 4 gene DOID:12336 male infertility ISO RGD:732831 D RGD:9068941 20200609 RGD PMID:12167408|REF_RGD_ID:632500 11931176 AKAP4 A-kinase anchoring protein 4 gene DOID:12849 autistic disorder ISO RGD:732830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11931176 AKAP4 A-kinase anchoring protein 4 gene DOID:630 genetic disease ISO RGD:732830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11931192 STK26 serine/threonine kinase 26 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11931192 STK26 serine/threonine kinase 26 gene DOID:12849 autistic disorder ISO RGD:1604356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11931192 STK26 serine/threonine kinase 26 gene DOID:630 genetic disease ISO RGD:1604356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11931214 TOP2B DNA topoisomerase II beta gene DOID:0060041 autism spectrum disorder ISO RGD:1350637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder 11931214 TOP2B DNA topoisomerase II beta gene DOID:0060728 NGLY1-deficiency ISO RGD:1350637 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of deglycosylation PMID:24651605|PMID:28492532 11931214 TOP2B DNA topoisomerase II beta gene DOID:0111800 syndromic microphthalmia 12 ISO RGD:1350637 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Microphthalmia, syndromic 12 PMID:24651605|PMID:28492532 11931214 TOP2B DNA topoisomerase II beta gene DOID:630 genetic disease ISO RGD:1350637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11931214 TOP2B DNA topoisomerase II beta gene DOID:8634 prostate carcinoma in situ ISO RGD:1350637 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20601956 11931214 TOP2B DNA topoisomerase II beta gene DOID:8692 myeloid leukemia ISO RGD:1350637 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16932348 11931214 TOP2B DNA topoisomerase II beta gene DOID:9007742 B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations ISO RGD:1350637 D RGD:7240710 20211110 OMIM 11931214 TOP2B DNA topoisomerase II beta gene DOID:9007742 B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations ISO RGD:1350637 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations PMID:11152140|PMID:11476068|PMID:15521984|PMID:21204224|PMID:22002929|PMID:25741868|PMID:28492532|PMID:31409799|PMID:32128574|PMID:33459963 11931253 ITPKC inositol-trisphosphate 3-kinase C gene DOID:13378 Kawasaki disease ISO RGD:1345351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18084290 11931253 ITPKC inositol-trisphosphate 3-kinase C gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1345351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11931253 ITPKC inositol-trisphosphate 3-kinase C gene DOID:1342 congenital hypoplastic anemia ISO RGD:1345351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11931253 ITPKC inositol-trisphosphate 3-kinase C gene DOID:2340 craniosynostosis ISO RGD:1345351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11931253 ITPKC inositol-trisphosphate 3-kinase C gene DOID:3362 coronary aneurysm ISO RGD:1345351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18084290 11931253 ITPKC inositol-trisphosphate 3-kinase C gene DOID:630 genetic disease ISO RGD:1345351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11931253 ITPKC inositol-trisphosphate 3-kinase C gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1345351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11931253 ITPKC inositol-trisphosphate 3-kinase C gene DOID:9256 colorectal cancer susceptibility ISO RGD:1345351 D RGD:9068941 20220617 RGD DNA:SNP:intron: (rs2607420) (human) PMID:33470690|REF_RGD_ID:152995405 11931253 ITPKC inositol-trisphosphate 3-kinase C gene DOID:9269 maple syrup urine disease ISO RGD:1345351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11931265 LONP1 lon peptidase 1, mitochondrial gene DOID:0111274 CODAS syndrome ISO RGD:734453 D RGD:7240710 20180130 OMIM 11931265 LONP1 lon peptidase 1, mitochondrial gene DOID:0111274 CODAS syndrome ISO RGD:734453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CODAS syndrome PMID:1887855|PMID:25574826|PMID:25741868|PMID:25741869|PMID:25808063|PMID:27878435|PMID:28492532|PMID:30304514|PMID:31636596|PMID:5574826 11931265 LONP1 lon peptidase 1, mitochondrial gene DOID:2316 brain ischemia ISO RGD:621598 D RGD:9068941 20200609 RGD PMID:12082077|REF_RGD_ID:633879 11931265 LONP1 lon peptidase 1, mitochondrial gene DOID:326 ischemia ISO RGD:621598 D RGD:9068941 20200609 RGD PMID:12082077|REF_RGD_ID:633879 11931265 LONP1 lon peptidase 1, mitochondrial gene DOID:630 genetic disease ISO RGD:734453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:5574826 11931265 LONP1 lon peptidase 1, mitochondrial gene DOID:83 cataract ISO RGD:734453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 11931265 LONP1 lon peptidase 1, mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:1887855|PMID:25574826|PMID:25741868|PMID:28492532 11931265 LONP1 lon peptidase 1, mitochondrial gene DOID:9007661 Dwarfism ISO RGD:734453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:28492532 11931288 SET SET nuclear proto-oncogene gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11931288 SET SET nuclear proto-oncogene gene DOID:1059 intellectual disability ISO RGD:1316679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:11231286|PMID:25356899|PMID:25741868|PMID:27775603|PMID:28135719|PMID:29688601|PMID:34008892 11931288 SET SET nuclear proto-oncogene gene DOID:4441 dysgerminoma ISO RGD:1316679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysgerminoma PMID:26822237 11931288 SET SET nuclear proto-oncogene gene DOID:630 genetic disease ISO RGD:1316679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11231286|PMID:25356899|PMID:25741868|PMID:27775603|PMID:28135719|PMID:29688601|PMID:34008892 11931288 SET SET nuclear proto-oncogene gene DOID:684 hepatocellular carcinoma ISO RGD:1316679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:26822237 11931288 SET SET nuclear proto-oncogene gene DOID:9000141 Autosomal Dominant Intellectual Developmental Disorder 58 ISO RGD:1316679 D RGD:7240710 20190315 OMIM 11931288 SET SET nuclear proto-oncogene gene DOID:9000141 Autosomal Dominant Intellectual Developmental Disorder 58 ISO RGD:1316679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 58 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 58 PMID:11231286|PMID:25356899|PMID:25741868|PMID:27775603|PMID:28135719|PMID:29688601|PMID:34008892 11931288 SET SET nuclear proto-oncogene gene DOID:9000141 Autosomal Dominant Intellectual Developmental Disorder 58 ISO RGD:1316679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 58 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 58 PMID:11231286|PMID:17576681|PMID:25356899|PMID:25741868|PMID:27775603|PMID:28135719|PMID:28492532|PMID:29688601|PMID:34008892|PMID:9536098 11931288 SET SET nuclear proto-oncogene gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1316679 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24555657 11931288 SET SET nuclear proto-oncogene gene DOID:9005749 Necrosis ISO RGD:1316679 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24555657 11931288 SET SET nuclear proto-oncogene gene DOID:9008086 Developmental Disabilities ISO RGD:1316679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:11231286|PMID:25356899|PMID:25741868|PMID:27775603|PMID:28135719|PMID:29688601|PMID:34008892 11931304 NFKBIL1 NFKB inhibitor like 1 gene DOID:0050553 JMP syndrome ISO RGD:1351897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11931304 NFKBIL1 NFKB inhibitor like 1 gene DOID:11372 megacolon ISO RGD:1351897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11931304 NFKBIL1 NFKB inhibitor like 1 gene DOID:630 genetic disease ISO RGD:1351897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11931304 NFKBIL1 NFKB inhibitor like 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1351897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis PMID:12509789 11931304 NFKBIL1 NFKB inhibitor like 1 gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1351897 D RGD:7240710 20190329 OMIM 11931322 FAM133B family with sequence similarity 133 member B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11931322 FAM133B family with sequence similarity 133 member B gene DOID:630 genetic disease ISO RGD:1606931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11931342 TUBGCP3 tubulin gamma complex associated protein 3 gene DOID:2222 factor X deficiency ISO RGD:1313927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 11931342 TUBGCP3 tubulin gamma complex associated protein 3 gene DOID:630 genetic disease ISO RGD:1313927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11931377 TOMM5 translocase of outer mitochondrial membrane 5 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1347873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11931377 TOMM5 translocase of outer mitochondrial membrane 5 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1347873 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11931377 TOMM5 translocase of outer mitochondrial membrane 5 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1347873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11931377 TOMM5 translocase of outer mitochondrial membrane 5 gene DOID:630 genetic disease ISO RGD:1347873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11931377 TOMM5 translocase of outer mitochondrial membrane 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1347873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11931377 TOMM5 translocase of outer mitochondrial membrane 5 gene DOID:9870 galactosemia ISO RGD:1347873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11931387 ATP11A ATPase phospholipid transporting 11A gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1318606 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23583980 11931387 ATP11A ATPase phospholipid transporting 11A gene DOID:0080600 COVID-19 ISO RGD:1318606 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 11931387 ATP11A ATPase phospholipid transporting 11A gene DOID:0110562 autosomal dominant nonsyndromic deafness 33 ISO RGD:1318606 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 33 PMID:25741868|PMID:30311386|PMID:35278131 11931387 ATP11A ATPase phospholipid transporting 11A gene DOID:2222 factor X deficiency ISO RGD:1318606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 11931387 ATP11A ATPase phospholipid transporting 11A gene DOID:630 genetic disease ISO RGD:1318606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11931387 ATP11A ATPase phospholipid transporting 11A gene DOID:9000796 Autosomal Dominant Nonsyndromic Deafness 84 ISO RGD:1318606 D RGD:7240710 20220615 OMIM 11931387 ATP11A ATPase phospholipid transporting 11A gene DOID:9000796 Autosomal Dominant Nonsyndromic Deafness 84 ISO RGD:1318606 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 84 PMID:25741868|PMID:30311386|PMID:35278131 11931387 ATP11A ATPase phospholipid transporting 11A gene DOID:9001753 Hypomyelinating Leukodystrophy 24 ISO RGD:1318606 D RGD:7240710 20220427 OMIM 11931387 ATP11A ATPase phospholipid transporting 11A gene DOID:9001753 Hypomyelinating Leukodystrophy 24 ISO RGD:1318606 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 24 PMID:34403372 11931430 ZNF519 zinc finger protein 519 gene DOID:1059 intellectual disability ISO RGD:1352204 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11931430 ZNF519 zinc finger protein 519 gene DOID:630 genetic disease ISO RGD:1352204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11931435 PMM1 phosphomannomutase 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1322064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11931435 PMM1 phosphomannomutase 1 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1322064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 11931435 PMM1 phosphomannomutase 1 gene DOID:630 genetic disease ISO RGD:1322064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11931447 KLHL2 kelch like family member 2 gene DOID:630 genetic disease ISO RGD:1314975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11931465 PTPN21 protein tyrosine phosphatase non-receptor type 21 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:734205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:28492532 11931465 PTPN21 protein tyrosine phosphatase non-receptor type 21 gene DOID:10283 prostate cancer ISO RGD:734205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11931465 PTPN21 protein tyrosine phosphatase non-receptor type 21 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:734205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11931465 PTPN21 protein tyrosine phosphatase non-receptor type 21 gene DOID:2661 myoepithelioma ISO RGD:734205 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11931465 PTPN21 protein tyrosine phosphatase non-receptor type 21 gene DOID:630 genetic disease ISO RGD:734205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11931498 AHCYL1 adenosylhomocysteinase like 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1320280 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11931498 AHCYL1 adenosylhomocysteinase like 1 gene DOID:12849 autistic disorder ISO RGD:1320280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11931498 AHCYL1 adenosylhomocysteinase like 1 gene DOID:630 genetic disease ISO RGD:1320280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11931515 MIR1-1HG MIR1-1 host gene gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1349021 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11931515 MIR1-1HG MIR1-1 host gene gene DOID:0060224 atrial fibrillation ISO RGD:1349021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 11931515 MIR1-1HG MIR1-1 host gene gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1349021 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11931515 MIR1-1HG MIR1-1 host gene gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1349021 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11931515 MIR1-1HG MIR1-1 host gene gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1349021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 11931521 CYP7A1 cytochrome P450 family 7 subfamily A member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:69210 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11931521 CYP7A1 cytochrome P450 family 7 subfamily A member 1 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:69210 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:28774887|REF_RGD_ID:15045601 11931521 CYP7A1 cytochrome P450 family 7 subfamily A member 1 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:2482 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:liver (rat) treatment with INT-767 PMID:30038487|REF_RGD_ID:15092090 11931521 CYP7A1 cytochrome P450 family 7 subfamily A member 1 gene DOID:12351 alcoholic hepatitis treatment ISO RGD:2482 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 11931521 CYP7A1 cytochrome P450 family 7 subfamily A member 1 gene DOID:13580 cholestasis ISO RGD:69210 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22461449|PMID:9797378 11931521 CYP7A1 cytochrome P450 family 7 subfamily A member 1 gene DOID:13580 cholestasis treatment ISO RGD:2482 D RGD:9068941 20200609 RGD PMID:29655695|REF_RGD_ID:15090803 11931521 CYP7A1 cytochrome P450 family 7 subfamily A member 1 gene DOID:13619 extrahepatic cholestasis ISO RGD:2482 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver, nucleus (rat) PMID:28660384|REF_RGD_ID:21203516 11931521 CYP7A1 cytochrome P450 family 7 subfamily A member 1 gene DOID:13619 extrahepatic cholestasis treatment ISO RGD:2482 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:29360226|REF_RGD_ID:14995480 11931521 CYP7A1 cytochrome P450 family 7 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:69210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11931521 CYP7A1 cytochrome P450 family 7 subfamily A member 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:2482 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:16472823|REF_RGD_ID:13782194 11931521 CYP7A1 cytochrome P450 family 7 subfamily A member 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:69210 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8245718 11931521 CYP7A1 cytochrome P450 family 7 subfamily A member 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2482 D RGD:9068941 20200609 RGD PMID:15521018|REF_RGD_ID:15045602 11931531 KLHL1 kelch like family member 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1316652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11931531 KLHL1 kelch like family member 1 gene DOID:630 genetic disease ISO RGD:1316652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11931549 LOC100993088 endothelin-converting enzyme-like 1 gene DOID:0050646 distal arthrogryposis ISO RGD:62098 D RGD:9068941 20220825 MouseDO OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065 11931549 LOC100993088 endothelin-converting enzyme-like 1 gene DOID:0060476 Perlman syndrome ISO RGD:731078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11931549 LOC100993088 endothelin-converting enzyme-like 1 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:731078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868|PMID:31694722 11931549 LOC100993088 endothelin-converting enzyme-like 1 gene DOID:0110991 Joubert syndrome 22 ISO RGD:731078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11931549 LOC100993088 endothelin-converting enzyme-like 1 gene DOID:0111594 distal arthrogryposis type 5D ISO RGD:731078 D RGD:7240710 20180509 OMIM 11931549 LOC100993088 endothelin-converting enzyme-like 1 gene DOID:0111594 distal arthrogryposis type 5D ISO RGD:731078 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis type 5D PMID:18414213|PMID:23236030|PMID:23261301|PMID:24782201|PMID:25099528|PMID:25173900|PMID:25741868|PMID:26752647|PMID:28492532|PMID:31694722|PMID:32566668 11931549 LOC100993088 endothelin-converting enzyme-like 1 gene DOID:11162 respiratory failure ISO RGD:62098 D RGD:9068941 20200609 RGD PMID:10400672|REF_RGD_ID:734911 11931549 LOC100993088 endothelin-converting enzyme-like 1 gene DOID:630 genetic disease ISO RGD:731078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31694722 11931570 CPB2 carboxypeptidase B2 gene DOID:0050855 renal fibrosis ISO RGD:736000 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction; PMID:17988229|REF_RGD_ID:7243118 11931570 CPB2 carboxypeptidase B2 gene DOID:1184 nephrotic syndrome ISO RGD:731734 D RGD:9068941 20200609 RGD protein:increased activity,increased expression:plasma PMID:12439147|REF_RGD_ID:7243124 11931570 CPB2 carboxypeptidase B2 gene DOID:13241 Behcet's disease ISO RGD:731734 D RGD:9068941 20200609 RGD PMID:15668188|REF_RGD_ID:1598474 11931570 CPB2 carboxypeptidase B2 gene DOID:13938 amenorrhea ISO RGD:731734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16167916 11931570 CPB2 carboxypeptidase B2 gene DOID:2228 thrombocytosis ISO RGD:731734 D RGD:9068941 20200609 RGD PMID:16244771|REF_RGD_ID:1598473 11931570 CPB2 carboxypeptidase B2 gene DOID:2921 glomerulonephritis ISO RGD:736000 D RGD:9068941 20200609 RGD PMID:18612543|REF_RGD_ID:7243117 11931570 CPB2 carboxypeptidase B2 gene DOID:630 genetic disease ISO RGD:731734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11931570 CPB2 carboxypeptidase B2 gene DOID:784 chronic kidney disease ISO RGD:731734 D RGD:9068941 20200609 RGD DNA:polymorphism:cds :p.A147T(rs3742264)(human) PMID:19056482|REF_RGD_ID:7243119 11931570 CPB2 carboxypeptidase B2 gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:731734 D RGD:9068941 20200609 RGD DNA:polymorphism: ;1542C>G(human) PMID:17327284|REF_RGD_ID:7243121 11931570 CPB2 carboxypeptidase B2 gene DOID:9000483 Angina Pectoris ISO RGD:731734 D RGD:9068941 20200609 RGD PMID:12624641|REF_RGD_ID:1598479 11931570 CPB2 carboxypeptidase B2 gene DOID:9000808 Hypercholesterolemia ISO RGD:731734 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:16123492|REF_RGD_ID:2313641 11931570 CPB2 carboxypeptidase B2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:731734 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:12574207|REF_RGD_ID:7243123 11931570 CPB2 carboxypeptidase B2 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:731734 D RGD:9068941 20200609 RGD DNA:SNP:cds:1040C>T(human) PMID:22932273|REF_RGD_ID:7243116 11931570 CPB2 carboxypeptidase B2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:71035 D RGD:9068941 20200609 RGD PMID:22768796|REF_RGD_ID:7243111 11931570 CPB2 carboxypeptidase B2 gene DOID:9002906 Multiple Organ Failure ISO RGD:71035 D RGD:9068941 20200609 RGD associated with sepsis, endotoxemia; PMID:19325462|REF_RGD_ID:7243114 11931570 CPB2 carboxypeptidase B2 gene DOID:9003121 Thromboembolism ISO RGD:731734 D RGD:9068941 20200609 RGD PMID:14739223|REF_RGD_ID:1598476 11931570 CPB2 carboxypeptidase B2 gene DOID:9004484 Sepsis ISO RGD:71035 D RGD:9068941 20200609 RGD protein:increased activity:plasma: PMID:15497025|REF_RGD_ID:2313648 11931570 CPB2 carboxypeptidase B2 gene DOID:9005036 Bacteremia ISO RGD:71035 D RGD:9068941 20200609 RGD protein:decreased activity:plasma PMID:17911187|REF_RGD_ID:2313646 11931570 CPB2 carboxypeptidase B2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:71035 D RGD:9068941 20200609 RGD mRNA,protein:increased expression,increased activity:liver,plasma PMID:19386599|REF_RGD_ID:7243112 11931570 CPB2 carboxypeptidase B2 gene DOID:9007692 Insulin Resistance ISO RGD:731734 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression, increased activity:plasma PMID:11836301|REF_RGD_ID:2313645 11931570 CPB2 carboxypeptidase B2 gene DOID:9007730 Burns ISO RGD:71035 D RGD:9068941 20200609 RGD protein:increased activity:plasma PMID:15497025|REF_RGD_ID:2313648 11931570 CPB2 carboxypeptidase B2 gene DOID:9008366 Meningococcal Infections ISO RGD:731734 D RGD:9068941 20200609 RGD PMID:14717966|REF_RGD_ID:1598478 11931570 CPB2 carboxypeptidase B2 gene DOID:9351 diabetes mellitus ISO RGD:731734 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:plasma PMID:14983223|REF_RGD_ID:2313643 11931570 CPB2 carboxypeptidase B2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731734 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:plasma PMID:11836301|REF_RGD_ID:2313645 11931570 CPB2 carboxypeptidase B2 gene DOID:9970 obesity ISO RGD:731734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16959692 11931570 CPB2 carboxypeptidase B2 gene DOID:9970 obesity ISO RGD:731734 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression, increased activity:plasma PMID:11836301|REF_RGD_ID:2313645 11931571 TET1 tet methylcytosine dioxygenase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1322209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25290267 11931571 TET1 tet methylcytosine dioxygenase 1 gene DOID:630 genetic disease ISO RGD:1322209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11931571 TET1 tet methylcytosine dioxygenase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1322209 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:23671639|REF_RGD_ID:9586747 11931587 CCDC148 coiled-coil domain containing 148 gene DOID:13938 amenorrhea ISO RGD:1604533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11931587 CCDC148 coiled-coil domain containing 148 gene DOID:630 genetic disease ISO RGD:1604533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11931613 SPMIP5 sperm associated microtubule inner protein 5 gene DOID:303 substance-related disorder ISO RGD:1352905 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11931613 SPMIP5 sperm associated microtubule inner protein 5 gene DOID:630 genetic disease ISO RGD:1352905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11931645 TMOD4 tropomodulin 4 gene DOID:0080422 Dravet syndrome ISO RGD:1319001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 11931645 TMOD4 tropomodulin 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1319001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11931645 TMOD4 tropomodulin 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1319001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11931645 TMOD4 tropomodulin 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1319001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11931645 TMOD4 tropomodulin 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1319001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11931645 TMOD4 tropomodulin 4 gene DOID:5812 MHC class II deficiency ISO RGD:1319001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11931645 TMOD4 tropomodulin 4 gene DOID:630 genetic disease ISO RGD:1319001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11931645 TMOD4 tropomodulin 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11931794 LOC100969375 caspase recruitment domain-containing protein 8 gene DOID:0112154 inflammatory bowel disease 30 ISO RGD:1351599 D RGD:7240710 20201111 OMIM 11931794 LOC100969375 caspase recruitment domain-containing protein 8 gene DOID:0112154 inflammatory bowel disease 30 ISO RGD:1351599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 30 PMID:25741868|PMID:28492532|PMID:29408806 11931794 LOC100969375 caspase recruitment domain-containing protein 8 gene DOID:13189 gout ISO RGD:1351599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26462562 11931794 LOC100969375 caspase recruitment domain-containing protein 8 gene DOID:1532 pleural disease ISO RGD:1351599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24142982 11931794 LOC100969375 caspase recruitment domain-containing protein 8 gene DOID:630 genetic disease ISO RGD:1351599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11931794 LOC100969375 caspase recruitment domain-containing protein 8 gene DOID:9005463 Occupational Diseases ISO RGD:1351599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24142982 11931837 RIBC1 RIB43A domain with coiled-coils 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11931837 RIBC1 RIB43A domain with coiled-coils 1 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1344064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 11931837 RIBC1 RIB43A domain with coiled-coils 1 gene DOID:0112038 non-syndromic X-linked intellectual disability 1 ISO RGD:1344064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 PMID:26059843|PMID:28492532 11931837 RIBC1 RIB43A domain with coiled-coils 1 gene DOID:12849 autistic disorder ISO RGD:1344064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11931837 RIBC1 RIB43A domain with coiled-coils 1 gene DOID:607 paraplegia ISO RGD:1344064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11931837 RIBC1 RIB43A domain with coiled-coils 1 gene DOID:630 genetic disease ISO RGD:1344064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11931837 RIBC1 RIB43A domain with coiled-coils 1 gene DOID:9004603 Atkin Syndrome ISO RGD:1344064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome PMID:26059843|PMID:28492532 11931861 CDH22 cadherin 22 gene DOID:2234 focal epilepsy ISO RGD:732591 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11931861 CDH22 cadherin 22 gene DOID:630 genetic disease ISO RGD:732591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11931861 CDH22 cadherin 22 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 11931877 LRRC42 leucine rich repeat containing 42 gene DOID:630 genetic disease ISO RGD:1604548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11931900 MRNIP MRN complex interacting protein gene DOID:5408 Paget's disease of bone ISO RGD:1606005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone Paget disease 11931900 MRNIP MRN complex interacting protein gene DOID:9005240 Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy ISO RGD:1606005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset PMID:25741868 11931900 MRNIP MRN complex interacting protein gene DOID:9007946 Paget Disease of Bone 3 ISO RGD:1606005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paget disease of bone 3 11931910 AGRP agouti related neuropeptide gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:736333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11931910 AGRP agouti related neuropeptide gene DOID:630 genetic disease ISO RGD:736333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11931910 AGRP agouti related neuropeptide gene DOID:9002916 Hyperphagia ISO RGD:2068 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:hypothalamus PMID:11179781|REF_RGD_ID:2314004 11931910 AGRP agouti related neuropeptide gene DOID:9005768 Thinness ISO RGD:736333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leanness, inherited PMID:11602360|PMID:12213871|PMID:15054840 11931910 AGRP agouti related neuropeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:2068 D RGD:9068941 20200609 RGD mRNA:decreased expression:hypothalamus PMID:18001323|REF_RGD_ID:2311538 11931910 AGRP agouti related neuropeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:736333 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-38C>T (human) PMID:11554767|REF_RGD_ID:2314000 11931910 AGRP agouti related neuropeptide gene DOID:9970 obesity ISO RGD:736333 D RGD:7240710 20180130 OMIM 11931910 AGRP agouti related neuropeptide gene DOID:9970 obesity ISO RGD:736333 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, late-onset PMID:11602360|PMID:12213871|PMID:15054840|PMID:25741868 11931921 TMEM231 transmembrane protein 231 gene DOID:0050777 Joubert syndrome ISO RGD:3008206 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:23012439|PMID:23349226|PMID:25741868|PMID:25869670|PMID:26489029|PMID:27449316|PMID:28492532|PMID:34354814 11931921 TMEM231 transmembrane protein 231 gene DOID:0050778 Meckel syndrome ISO RGD:3008206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:23349226|PMID:25558065|PMID:25741868 11931921 TMEM231 transmembrane protein 231 gene DOID:0060340 ciliopathy ISO RGD:3008206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ciliopathy PMID:25741868|PMID:25869670|PMID:28492532 11931921 TMEM231 transmembrane protein 231 gene DOID:0060373 orofaciodigital syndrome III ISO RGD:3008206 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome III PMID:25741868|PMID:25869670|PMID:26489029|PMID:28492532|PMID:34354814 11931921 TMEM231 transmembrane protein 231 gene DOID:0080205 CAKUT ISO RGD:3008206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868|PMID:30143558 11931921 TMEM231 transmembrane protein 231 gene DOID:0110989 Joubert syndrome 20 ISO RGD:3008206 D RGD:7240710 20180130 OMIM 11931921 TMEM231 transmembrane protein 231 gene DOID:0110989 Joubert syndrome 20 ISO RGD:3008206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 20 PMID:16199547|PMID:17576681|PMID:23012439|PMID:23349226|PMID:25640679|PMID:25741868|PMID:25869670|PMID:26477546|PMID:26489029|PMID:26982032|PMID:27449316|PMID:27894351|PMID:28289185|PMID:28492532|PMID:31054281|PMID:32055034|PMID:32386258|PMID:34354814|PMID:9536098 11931921 TMEM231 transmembrane protein 231 gene DOID:630 genetic disease ISO RGD:3008206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23012439|PMID:23349226|PMID:25741868|PMID:25869670|PMID:26489029|PMID:27449316|PMID:28492532|PMID:34354814 11931921 TMEM231 transmembrane protein 231 gene DOID:9007120 Meckel Syndrome 11 ISO RGD:3008206 D RGD:7240710 20180130 OMIM 11931921 TMEM231 transmembrane protein 231 gene DOID:9007120 Meckel Syndrome 11 ISO RGD:3008206 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 11 PMID:16199547|PMID:17576681|PMID:23012439|PMID:23349226|PMID:25558065|PMID:25741868|PMID:25869670|PMID:26489029|PMID:28492532|PMID:30143558|PMID:32055034|PMID:32386258|PMID:34354814|PMID:9536098 11931921 TMEM231 transmembrane protein 231 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:3008206 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11931936 CMTM2 CKLF like MARVEL transmembrane domain containing 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1342693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11931936 CMTM2 CKLF like MARVEL transmembrane domain containing 2 gene DOID:0080600 COVID-19 ISO RGD:1342693 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11931936 CMTM2 CKLF like MARVEL transmembrane domain containing 2 gene DOID:0110255 cataract 5 multiple types ISO RGD:1342693 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 11931936 CMTM2 CKLF like MARVEL transmembrane domain containing 2 gene DOID:630 genetic disease ISO RGD:1342693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11931936 CMTM2 CKLF like MARVEL transmembrane domain containing 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1342693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11931946 SUSD4 sushi domain containing 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1605987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11931946 SUSD4 sushi domain containing 4 gene DOID:630 genetic disease ISO RGD:1605987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11931946 SUSD4 sushi domain containing 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11931983 TP63 tumor protein p63 gene DOID:0050601 ADULT syndrome ISO RGD:1604844 D RGD:7240710 20180130 OMIM 11931983 TP63 tumor protein p63 gene DOID:0050601 ADULT syndrome ISO RGD:1604844 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ADULT syndrome | ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome PMID:11462173|PMID:11528512|PMID:11929852|PMID:16114047|PMID:16724007|PMID:16740912|PMID:17041931|PMID:17224651|PMID:17431922|PMID:17576681|PMID:18603493|PMID:18626511|PMID:19530185|PMID:19781362|PMID:20543567|PMID:21204238|PMID:24309930|PMID:25741868|PMID:27469932|PMID:28492532|PMID:8456838|PMID:8737655|PMID:9443880|PMID:9536098 11931983 TP63 tumor protein p63 gene DOID:0060330 Rapp-Hodgkin syndrome ISO RGD:1604844 D RGD:7240710 20180130 OMIM 11931983 TP63 tumor protein p63 gene DOID:0060330 Rapp-Hodgkin syndrome ISO RGD:1604844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with cleft lip/palate PMID:10535733|PMID:10839977|PMID:10886756|PMID:11462173|PMID:12525544|PMID:12766194|PMID:12939657|PMID:15200513|PMID:15983386|PMID:16740912|PMID:17576681|PMID:17609671|PMID:18326838|PMID:18626511|PMID:18792980|PMID:19239083|PMID:19353588|PMID:19903181|PMID:20543567|PMID:21078104|PMID:21652629|PMID:22607287|PMID:23355676|PMID:23431748|PMID:23463580|PMID:23775923|PMID:24309930|PMID:25741868|PMID:28293528|PMID:28492532|PMID:29620206|PMID:29956718|PMID:9536098 11931983 TP63 tumor protein p63 gene DOID:0060782 EEC syndrome ISO RGD:1604844 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome PMID:10535733|PMID:10839977|PMID:11462173|PMID:12161593|PMID:12445213|PMID:12525544|PMID:12939657|PMID:16691622|PMID:16740912|PMID:17041931|PMID:17431922|PMID:17576681|PMID:18326838|PMID:18626511|PMID:18792980|PMID:19353588|PMID:19663851|PMID:19903181|PMID:20180707|PMID:20543567|PMID:21078104|PMID:21204238|PMID:21211247|PMID:21652629|PMID:22607287|PMID:23355676|PMID:23431748|PMID:23463580|PMID:23775923|PMID:24309930|PMID:24734328|PMID:25741868|PMID:26380986|PMID:26882220|PMID:27028492|PMID:27798044|PMID:28293528|PMID:28492532|PMID:29130604|PMID:29620206|PMID:31050217|PMID:8737655|PMID:9443880|PMID:9536098 11931983 TP63 tumor protein p63 gene DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 ISO RGD:1604844 D RGD:7240710 20180130 OMIM 11931983 TP63 tumor protein p63 gene DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 ISO RGD:1604844 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: EEC SYNDROME 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 PMID:10535733|PMID:10839977|PMID:10936828|PMID:11462173|PMID:12161593|PMID:12445213|PMID:12525544|PMID:12838557|PMID:12939657|PMID:16691622|PMID:16740912|PMID:17041931|PMID:17431922|PMID:17576681|PMID:18326838|PMID:18626511|PMID:18792980|PMID:19353588|PMID:19663851|PMID:19903181|PMID:20180707|PMID:20543567|PMID:21078104|PMID:21204238|PMID:21211247|PMID:21652629|PMID:22607287|PMID:23355676|PMID:23431748|PMID:23463580|PMID:23775923|PMID:24309930|PMID:24734328|PMID:25741868|PMID:25983622|PMID:26380986|PMID:26882220|PMID:27028492|PMID:27798044|PMID:28293528|PMID:28492532|PMID:29130604|PMID:29620206|PMID:30655312|PMID:31050217|PMID:8737655|PMID:9028452|PMID:9443880|PMID:9536098 11931983 TP63 tumor protein p63 gene DOID:0080006 bone development disease ISO RGD:1604844 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 11931983 TP63 tumor protein p63 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1604844 D RGD:9068941 20200609 RGD DNA:deletion, insertion, SNPs: :multiple PMID:23284286|REF_RGD_ID:11568641 11931983 TP63 tumor protein p63 gene DOID:0080174 bladder exstrophy ISO RGD:736710 D RGD:9068941 20220825 MouseDO OMIM:600057 11931983 TP63 tumor protein p63 gene DOID:0080401 orofacial cleft 8 ISO RGD:1604844 D RGD:7240710 20190315 OMIM 11931983 TP63 tumor protein p63 gene DOID:0080401 orofacial cleft 8 ISO RGD:1604844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Orofacial cleft 8 PMID:16740912|PMID:17576681|PMID:24309930|PMID:25741868|PMID:27798044|PMID:28492532|PMID:29500247|PMID:9536098 11931983 TP63 tumor protein p63 gene DOID:0090020 split hand-foot malformation ISO RGD:1604844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectrodactyly 11931983 TP63 tumor protein p63 gene DOID:0090023 split hand-foot malformation 4 ISO RGD:1604844 D RGD:7240710 20180130 OMIM 11931983 TP63 tumor protein p63 gene DOID:0090023 split hand-foot malformation 4 ISO RGD:1604844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 4 | ClinVar Annotator: match by term: Split-hand/foot malformation 4 PMID:10535733|PMID:10839977|PMID:12161593|PMID:12525544|PMID:15736220|PMID:16740912|PMID:17224651|PMID:17576681|PMID:18626511|PMID:18792980|PMID:20543567|PMID:21078104|PMID:21211247|PMID:21652629|PMID:23355676|PMID:23463580|PMID:24309930|PMID:25741868|PMID:28293528|PMID:28492532|PMID:29620206|PMID:31050217|PMID:3366140|PMID:34008892|PMID:9536098 11931983 TP63 tumor protein p63 gene DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ISO RGD:1604844 D RGD:7240710 20180130 OMIM 11931983 TP63 tumor protein p63 gene DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ISO RGD:1604844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate | ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome PMID:10886756|PMID:11159940|PMID:15200513|PMID:16740912|PMID:17576681|PMID:19239083|PMID:19353588|PMID:19793345|PMID:21615690|PMID:24309930|PMID:25741868|PMID:28492532|PMID:9536098|PMID:9774969 11931983 TP63 tumor protein p63 gene DOID:10283 prostate cancer ISO RGD:1604844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11931983 TP63 tumor protein p63 gene DOID:10787 premature menopause ISO RGD:1604844 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Premature menopause PMID:25741868|PMID:30924587|PMID:35801529|PMID:36856110 11931983 TP63 tumor protein p63 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1604844 D RGD:9068941 20200609 RGD PMID:19690775|REF_RGD_ID:2315430 11931983 TP63 tumor protein p63 gene DOID:11514 fissured tongue ISO RGD:1604844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Furrowed tongue PMID:25741868 11931983 TP63 tumor protein p63 gene DOID:1324 lung cancer ISO RGD:1604844 D RGD:9068941 20220721 RGD DNA:SNP:intron:rs12696594 (human) PMID:29193083|REF_RGD_ID:153297750 11931983 TP63 tumor protein p63 gene DOID:13938 amenorrhea ISO RGD:1604844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11931983 TP63 tumor protein p63 gene DOID:1749 squamous cell carcinoma ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21527555 11931983 TP63 tumor protein p63 gene DOID:1793 pancreatic cancer ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098869 11931983 TP63 tumor protein p63 gene DOID:2121 ectodermal dysplasia ISO RGD:1604844 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.K193E (577A>G) (human) PMID:22574117|REF_RGD_ID:11568633 11931983 TP63 tumor protein p63 gene DOID:2671 transitional cell carcinoma ISO RGD:1604844 D RGD:9068941 20200609 RGD PMID:18955789|REF_RGD_ID:2315431 11931983 TP63 tumor protein p63 gene DOID:299 adenocarcinoma ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20871597 11931983 TP63 tumor protein p63 gene DOID:305 carcinoma ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23271742 11931983 TP63 tumor protein p63 gene DOID:3168 squamous cell neoplasm ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23271742 11931983 TP63 tumor protein p63 gene DOID:3463 breast disease ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11462173 11931983 TP63 tumor protein p63 gene DOID:3910 lung adenocarcinoma ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24880342 11931983 TP63 tumor protein p63 gene DOID:5419 schizophrenia ISO RGD:1604844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11931983 TP63 tumor protein p63 gene DOID:5426 primary ovarian insufficiency ISO RGD:1604844 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868|PMID:30924587|PMID:35801529|PMID:36856110 11931983 TP63 tumor protein p63 gene DOID:630 genetic disease ISO RGD:1604844 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10535733|PMID:10839977|PMID:11462173|PMID:12161593|PMID:12445213|PMID:12525544|PMID:19353588|PMID:20180707|PMID:21652629|PMID:23355676|PMID:24734328|PMID:25741868|PMID:26882220|PMID:27028492|PMID:28492532|PMID:29130604 11931983 TP63 tumor protein p63 gene DOID:674 cleft palate ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11462173 11931983 TP63 tumor protein p63 gene DOID:8534 gastroesophageal reflux disease ISO RGD:736710 D RGD:9068941 20220825 MouseDO OMIM:109350 11931983 TP63 tumor protein p63 gene DOID:8634 prostate carcinoma in situ ISO RGD:1604844 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:17189982|REF_RGD_ID:2315434 11931983 TP63 tumor protein p63 gene DOID:8634 prostate carcinoma in situ ISO RGD:736710 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581815 11931983 TP63 tumor protein p63 gene DOID:8634 prostate carcinoma in situ ISO RGD:736710 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:17982114|REF_RGD_ID:2315433 11931983 TP63 tumor protein p63 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:1604844 D RGD:9068941 20200609 RGD PMID:16804722|REF_RGD_ID:2315435 11931983 TP63 tumor protein p63 gene DOID:9000067 Congenital Foot Deformities ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11462173 11931983 TP63 tumor protein p63 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15875781 11931983 TP63 tumor protein p63 gene DOID:9001946 Skin Abnormalities ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10227294 11931983 TP63 tumor protein p63 gene DOID:9002170 Experimental Neoplasms ISO RGD:736710 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25739959 11931983 TP63 tumor protein p63 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604844 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:17189982|REF_RGD_ID:2315434 11931983 TP63 tumor protein p63 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736710 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581815 11931983 TP63 tumor protein p63 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736710 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland PMID:17982114|REF_RGD_ID:2315433 11931983 TP63 tumor protein p63 gene DOID:9002385 Limb-Mammary Syndrome ISO RGD:1604844 D RGD:7240710 20180130 OMIM 11931983 TP63 tumor protein p63 gene DOID:9002385 Limb-Mammary Syndrome ISO RGD:1604844 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Limb-mammary syndrome | ClinVar Annotator: match by term: Mammary hypoplasia, ectrodactyly, and other hand/foot anomalies PMID:11462173|PMID:16740912|PMID:17576681|PMID:18627043|PMID:24309930|PMID:25741868|PMID:28492532|PMID:32067224|PMID:9536098|PMID:9774969 11931983 TP63 tumor protein p63 gene DOID:9002739 Female Urogenital Diseases ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 11931983 TP63 tumor protein p63 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21266360 11931983 TP63 tumor protein p63 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1604844 D RGD:9068941 20200609 RGD mRNA:alternative form (human) PMID:17998283|REF_RGD_ID:2315432 11931983 TP63 tumor protein p63 gene DOID:9004321 Corneal Injuries ISO RGD:736710 D RGD:9068941 20200609 RGD PMID:12167247|REF_RGD_ID:11568649 11931983 TP63 tumor protein p63 gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:1604844 D RGD:9068941 20200609 RGD PMID:19402389|REF_RGD_ID:2315436 11931983 TP63 tumor protein p63 gene DOID:9004795 Congenital Hand Deformities ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11462173 11931983 TP63 tumor protein p63 gene DOID:9005172 Lung Neoplasms ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20871597|PMID:21725308 11931983 TP63 tumor protein p63 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620863 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:20041964|REF_RGD_ID:11568648 11931983 TP63 tumor protein p63 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10227294 11931983 TP63 tumor protein p63 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1604844 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:p.R204Q (c.611G>A), p.R227Q (c.680G>A), p.S271T (c.812G>C) (human) PMID:20410354|REF_RGD_ID:11568637 11931983 TP63 tumor protein p63 gene DOID:9006424 Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 ISO RGD:1604844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cleft lip with or without cleft palate, nonsyndromic, 8 PMID:16740912|PMID:17576681|PMID:24309930|PMID:25741868|PMID:27798044|PMID:28492532|PMID:9536098 11931983 TP63 tumor protein p63 gene DOID:9007274 Sweat Gland Neoplasms ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20740144 11931983 TP63 tumor protein p63 gene DOID:9007285 Primary Ovarian Insufficiency 21 ISO RGD:1604844 D RGD:7240710 20230505 OMIM 11931983 TP63 tumor protein p63 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22011395 11931983 TP63 tumor protein p63 gene DOID:9007653 Multiple Abnormalities ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466819 11931983 TP63 tumor protein p63 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15875781 11931983 TP63 tumor protein p63 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10227294 11931983 TP63 tumor protein p63 gene DOID:9008939 Breast Neoplasms ISO RGD:736710 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25739959 11931983 TP63 tumor protein p63 gene DOID:9296 cleft lip ISO RGD:1604844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant 11931983 TP63 tumor protein p63 gene DOID:9884 muscular dystrophy ISO RGD:1604844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:25741868 11932033 PSMC3 proteasome 26S subunit, ATPase 3 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:732077 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11932033 PSMC3 proteasome 26S subunit, ATPase 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:732077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 11932033 PSMC3 proteasome 26S subunit, ATPase 3 gene DOID:1059 intellectual disability ISO RGD:732077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11932033 PSMC3 proteasome 26S subunit, ATPase 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 11932033 PSMC3 proteasome 26S subunit, ATPase 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:732077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11932033 PSMC3 proteasome 26S subunit, ATPase 3 gene DOID:630 genetic disease ISO RGD:732077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28689658 11932033 PSMC3 proteasome 26S subunit, ATPase 3 gene DOID:83 cataract ISO RGD:732077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:32500975 11932033 PSMC3 proteasome 26S subunit, ATPase 3 gene DOID:9003595 DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY ISO RGD:732077 D RGD:7240710 20210818 OMIM 11932033 PSMC3 proteasome 26S subunit, ATPase 3 gene DOID:9003595 DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY ISO RGD:732077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, cataract, impaired intellectual development, and polyneuropathy PMID:32500975 11932033 PSMC3 proteasome 26S subunit, ATPase 3 gene DOID:9008086 Developmental Disabilities ISO RGD:732077 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay 11932054 DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1318848 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:16199547|PMID:22522442|PMID:25274842|PMID:25741868|PMID:28492532|PMID:32376792 11932054 DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1318848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11932054 DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1318848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11932054 DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:0110160 Charcot-Marie-Tooth disease axonal type 2T ISO RGD:1318848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2T PMID:24088041|PMID:26633545 11932054 DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 ISO RGD:1318848 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 PMID:22522442|PMID:25741868|PMID:26752306|PMID:27083531|PMID:28492532 11932054 DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:0111214 distal spinal muscular atrophy type 5 ISO RGD:1318848 D RGD:7240710 20180130 OMIM 11932054 DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:0111214 distal spinal muscular atrophy type 5 ISO RGD:1318848 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Young adult-onset distal hereditary motor neuropathy PMID:16199547|PMID:17576681|PMID:22522442|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25274842|PMID:25741868|PMID:26257172|PMID:26752306|PMID:27083531|PMID:27449489|PMID:28492532|PMID:32376792|PMID:9536098 11932054 DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1318848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11932054 DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1318848 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:22522442|PMID:24627108|PMID:25274842|PMID:25741868|PMID:26752306|PMID:27083531|PMID:28492532 11932054 DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:1148 polydactyly ISO RGD:1318848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 11932054 DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1318848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11932054 DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:630 genetic disease ISO RGD:1318848 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:22522442|PMID:25274842|PMID:25741868|PMID:26752306|PMID:27083531|PMID:28492532|PMID:32376792 11932054 DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11932071 COPS3 COP9 signalosome subunit 3 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1350505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 11932071 COPS3 COP9 signalosome subunit 3 gene DOID:0050777 Joubert syndrome ISO RGD:1350505 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11932071 COPS3 COP9 signalosome subunit 3 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1350505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 11932071 COPS3 COP9 signalosome subunit 3 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1350505 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 11932071 COPS3 COP9 signalosome subunit 3 gene DOID:12849 autistic disorder ISO RGD:1350505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11932071 COPS3 COP9 signalosome subunit 3 gene DOID:630 genetic disease ISO RGD:1350505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932071 COPS3 COP9 signalosome subunit 3 gene DOID:9005369 Hepatomegaly ISO RGD:1350505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 11932089 PPP4R3C protein phosphatase 4 regulatory subunit 3C gene DOID:12849 autistic disorder ISO RGD:1602982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11932089 PPP4R3C protein phosphatase 4 regulatory subunit 3C gene DOID:684 hepatocellular carcinoma ISO RGD:1602982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11932117 PELI3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:1605259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:22219654|PMID:28492532 11932117 PELI3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:1059 intellectual disability ISO RGD:1605259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11932117 PELI3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11932117 PELI3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:2746 glycogen storage disease V ISO RGD:1605259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11932117 PELI3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:630 genetic disease ISO RGD:1605259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932117 PELI3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1605259 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11932117 PELI3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1605259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11932133 HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 gene DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency ISO RGD:1344400 D RGD:7240710 20180130 OMIM 11932133 HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 gene DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency ISO RGD:1344400 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Testosterone 17-beta-dehydrogenase deficiency PMID:10599740|PMID:11158067|PMID:12429500|PMID:16199547|PMID:17466011|PMID:17509588|PMID:17551466|PMID:17576681|PMID:19498320|PMID:21214500|PMID:22212252|PMID:23295294|PMID:23796702|PMID:24025597|PMID:24033266|PMID:25525159|PMID:25740850|PMID:25741868|PMID:27163392|PMID:27899157|PMID:28492532|PMID:28739554|PMID:2918056|PMID:3066852|PMID:30668521|PMID:32297288|PMID:36606580|PMID:598011|PMID:8075637|PMID:8550739|PMID:8626842|PMID:9467575|PMID:9536098|PMID:9709959|PMID:9758445 11932133 HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 gene DOID:1059 intellectual disability ISO RGD:1344400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11932133 HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 gene DOID:10652 Alzheimer's disease ISO RGD:1344400 D RGD:9068941 20200609 RGD mRNA:altered expression:cerebellum, hippocampus (human) PMID:18180323|REF_RGD_ID:4889108 11932133 HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 gene DOID:1923 disorder of sexual development ISO RGD:1344400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 11932133 HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 gene DOID:3765 pseudohermaphroditism ISO RGD:1344400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pseudohermaphroditism PMID:10599740|PMID:12429500|PMID:16199547|PMID:17509588|PMID:17551466|PMID:17576681|PMID:19498320|PMID:21214500|PMID:22212252|PMID:23295294|PMID:23796702|PMID:24025597|PMID:24033266|PMID:25525159|PMID:25740850|PMID:25741868|PMID:27163392|PMID:27899157|PMID:28492532|PMID:2918056|PMID:30668521|PMID:32297288|PMID:8075637|PMID:8550739|PMID:8626842|PMID:9536098|PMID:9758445 11932133 HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 gene DOID:630 genetic disease ISO RGD:1344400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10599740|PMID:16199547|PMID:17509588|PMID:17576681|PMID:23295294|PMID:23796702|PMID:24033266|PMID:25525159|PMID:25740850|PMID:25741868|PMID:27163392|PMID:28492532|PMID:30668521|PMID:32297288|PMID:8075637|PMID:8550739|PMID:9536098 11932133 HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12210481 11932133 HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:621805 D RGD:9068941 20200609 RGD mRNA:decreased expression:testis, Leydig cell (rat) PMID:18481435|REF_RGD_ID:4889107 11932186 LIPA lipase A, lysosomal acid type gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:736562 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20557099 11932186 LIPA lipase A, lysosomal acid type gene DOID:0080217 lysosomal acid lipase deficiency ISO RGD:736562 D RGD:7240710 20180130 OMIM 11932186 LIPA lipase A, lysosomal acid type gene DOID:0080217 lysosomal acid lipase deficiency ISO RGD:736562 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acid lipase disease | ClinVar Annotator: match by term: Lysosomal acid lipase deficiency PMID:10562460|PMID:10627498|PMID:10746035|PMID:11441129|PMID:16199547|PMID:16255772|PMID:17576681|PMID:18775687|PMID:2129132|PMID:21291321|PMID:21757691|PMID:21963785|PMID:22138108|PMID:22227072|PMID:22795295|PMID:23424026|PMID:23430518|PMID:23485521|PMID:23583223|PMID:24033266|PMID:24048164|PMID:24072694|PMID:24792990|PMID:24832708|PMID:24993530|PMID:25525159|PMID:25620107|PMID:25624737|PMID:25722898|PMID:25741868|PMID:25852113|PMID:26225414|PMID:26252914|PMID:26350820|PMID:26913919|PMID:27423329|PMID:27624512|PMID:28220406|PMID:28374935|PMID:28492532|PMID:28502505|PMID:28502515|PMID:28881270|PMID:29196158|PMID:29958253|PMID:30270055|PMID:30684275|PMID:31113597|PMID:31131398|PMID:31180157|PMID:3118057|PMID:31182375|PMID:31230978|PMID:31392116|PMID:32041611|PMID:32382506|PMID:7499245|PMID:7751811|PMID:7759067|PMID:7773732|PMID:7833918|PMID:8146180|PMID:8254026|PMID:8598644|PMID:8617513|PMID:8864960|PMID:8894696|PMID:9367797|PMID:9536098|PMID:9554751|PMID:9633819|PMID:9684740|PMID:9925650 11932186 LIPA lipase A, lysosomal acid type gene DOID:0080600 COVID-19 ISO RGD:736562 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11932186 LIPA lipase A, lysosomal acid type gene DOID:14497 Wolman disease ISO RGD:736562 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Wolman disease PMID:1056246|PMID:10562460|PMID:10627498|PMID:10746035|PMID:11441129|PMID:16199547|PMID:16255772|PMID:17576681|PMID:2129132|PMID:21291321|PMID:21757691|PMID:21963785|PMID:22138108|PMID:22227072|PMID:22795295|PMID:23424026|PMID:23430518|PMID:23485521|PMID:23583223|PMID:24048164|PMID:24072694|PMID:24792990|PMID:24832708|PMID:24993530|PMID:25620107|PMID:25624737|PMID:25722898|PMID:25741868|PMID:25852113|PMID:26225414|PMID:26252914|PMID:26350820|PMID:26913919|PMID:27423329|PMID:27624512|PMID:28220406|PMID:28374935|PMID:28492532|PMID:28502505|PMID:28502515|PMID:28881270|PMID:29196158|PMID:29958253|PMID:30249571|PMID:30270055|PMID:30665623|PMID:30684275|PMID:31113597|PMID:31131398|PMID:31180157|PMID:3118057|PMID:31182375|PMID:31230978|PMID:31392116|PMID:31412917|PMID:32041611|PMID:32382506|PMID:7499245|PMID:7751811|PMID:7759067|PMID:7773732|PMID:7833918|PMID:8146180|PMID:8254026|PMID:8598644|PMID:8617513|PMID:8894696|PMID:8956047|PMID:9367797|PMID:9536098|PMID:9554751|PMID:9633819|PMID:9684740|PMID:9925650 11932186 LIPA lipase A, lysosomal acid type gene DOID:14502 cholesterol ester storage disease ISO RGD:736562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cholesteryl ester storage disease PMID:10562460|PMID:16255772|PMID:17576681|PMID:21757691|PMID:22227072|PMID:22795295|PMID:23424026|PMID:23485521|PMID:24072694|PMID:25722898|PMID:25741868|PMID:25852113|PMID:26225414|PMID:26252914|PMID:26350820|PMID:28492532|PMID:28502505|PMID:28502515|PMID:28881270|PMID:29958253|PMID:30684275|PMID:31182375|PMID:31230978|PMID:31392116|PMID:7499245|PMID:7751811|PMID:7759067|PMID:8146180|PMID:8254026|PMID:8598644|PMID:8617513|PMID:9536098|PMID:9684740 11932186 LIPA lipase A, lysosomal acid type gene DOID:3393 coronary artery disease ISO RGD:736562 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:21378988|PMID:34961328|PMID:35590109 11932186 LIPA lipase A, lysosomal acid type gene DOID:630 genetic disease ISO RGD:736562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11932186 LIPA lipase A, lysosomal acid type gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:736562 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532 11932186 LIPA lipase A, lysosomal acid type gene DOID:9000784 Fibrosis ISO RGD:736562 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:35679793 11932186 LIPA lipase A, lysosomal acid type gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:736562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 PMID:28492532 11932203 LMF2 lipase maturation factor 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1606481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 11932203 LMF2 lipase maturation factor 2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1606481 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 11932203 LMF2 lipase maturation factor 2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1606481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11932203 LMF2 lipase maturation factor 2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1606481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 11932203 LMF2 lipase maturation factor 2 gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1606481 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 11932203 LMF2 lipase maturation factor 2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1606481 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 11932203 LMF2 lipase maturation factor 2 gene DOID:1059 intellectual disability ISO RGD:1606481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11932203 LMF2 lipase maturation factor 2 gene DOID:630 genetic disease ISO RGD:1606481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932232 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:0050713 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency ISO RGD:1601870 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency PMID:10545952|PMID:11673586|PMID:12020273|PMID:14970747|PMID:14994243|PMID:15210538|PMID:16326995|PMID:16765077|PMID:18924171|PMID:19879173|PMID:23407777|PMID:23643385|PMID:23719228|PMID:25058219|PMID:25741868|PMID:27290639|PMID:28492532|PMID:28798025|PMID:29193756|PMID:29351582|PMID:31589614|PMID:31623504|PMID:32668698|PMID:33098801|PMID:34426522|PMID:34691145 11932232 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:0060041 autism spectrum disorder ISO RGD:1601870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 11932232 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1601870 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 11932232 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:0080119 mitochondrial DNA depletion syndrome 1 ISO RGD:1601870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 PMID:23643385|PMID:25741868|PMID:28492532 11932232 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:1601870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:23643385|PMID:25741868|PMID:28492532 11932232 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1601870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11932232 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:0080357 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 ISO RGD:1601870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 PMID:10545952|PMID:10749987|PMID:11673586|PMID:12020273|PMID:14970747|PMID:14994243|PMID:15210538|PMID:16326995|PMID:16765077|PMID:18804471|PMID:18924171|PMID:19879173|PMID:20159436|PMID:23345593|PMID:23407777|PMID:23643385|PMID:23719228|PMID:25058219|PMID:25741868|PMID:25959673|PMID:27290639|PMID:28492532|PMID:28518168|PMID:28798025|PMID:29193756|PMID:29351582|PMID:30593977|PMID:31589614|PMID:31623504|PMID:32461654|PMID:32668698|PMID:33098801|PMID:33171185|PMID:34426522|PMID:34691145 11932232 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1601870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 11932232 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1601870 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 11932232 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1601870 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 11932232 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:1059 intellectual disability ISO RGD:1601870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11932232 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:11832 visual epilepsy ISO RGD:1601870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:10545952|PMID:11673586|PMID:12020273|PMID:14970747|PMID:15210538|PMID:16326995|PMID:16765077|PMID:23643385|PMID:23719228|PMID:25741868|PMID:28492532 11932232 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1601870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10545952|PMID:15210538|PMID:19879173|PMID:20159436|PMID:25741868|PMID:28492532 11932232 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:1826 epilepsy ISO RGD:1601870 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizures PMID:10545952|PMID:11673586|PMID:12020273|PMID:14970747|PMID:14994243|PMID:15210538|PMID:16326995|PMID:16765077|PMID:18924171|PMID:19879173|PMID:23407777|PMID:23643385|PMID:23719228|PMID:25058219|PMID:25741868|PMID:27290639|PMID:28492532|PMID:28798025|PMID:29193756|PMID:29351582|PMID:31589614|PMID:31623504|PMID:32668698|PMID:33098801|PMID:34426522|PMID:34691145 11932232 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1601870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:23643385|PMID:25741868|PMID:25959673|PMID:28492532|PMID:28518168|PMID:32461654 11932232 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:630 genetic disease ISO RGD:1601870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23643385|PMID:25741868|PMID:25959673|PMID:28492532|PMID:28518168|PMID:32461654 11932232 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:9001263 Mitochondrial DNA Depletion Syndrome, MNGIE Type ISO RGD:1601870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:23643385|PMID:25741868|PMID:28492532 11932232 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:9004853 Myopia 6 ISO RGD:1601870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopia 6 | ClinVar Annotator: match by term: Myopia, susceptibility to PMID:10545952|PMID:10749987|PMID:11673586|PMID:12020273|PMID:14970747|PMID:14994243|PMID:15210538|PMID:16326995|PMID:16765077|PMID:18924171|PMID:19879173|PMID:23407777|PMID:23643385|PMID:23719228|PMID:25058219|PMID:25741868|PMID:25959673|PMID:27290639|PMID:28492532|PMID:28518168|PMID:28798025|PMID:29193756|PMID:29351582|PMID:31589614|PMID:31623504|PMID:32461654|PMID:32668698|PMID:33098801|PMID:33171185|PMID:34426522|PMID:34691145 11932232 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:1601870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:23643385|PMID:25741868|PMID:28492532 11932263 NCKAP5L NCK associated protein 5 like gene DOID:630 genetic disease ISO RGD:1605652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932314 VPS37D VPS37D subunit of ESCRT-I gene DOID:0060041 autism spectrum disorder ISO RGD:1349183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 11932314 VPS37D VPS37D subunit of ESCRT-I gene DOID:10923 sickle cell anemia ISO RGD:1349183 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 11932314 VPS37D VPS37D subunit of ESCRT-I gene DOID:12849 autistic disorder ISO RGD:1349183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11932314 VPS37D VPS37D subunit of ESCRT-I gene DOID:1928 Williams-Beuren syndrome ISO RGD:1349183 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 11932314 VPS37D VPS37D subunit of ESCRT-I gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11932314 VPS37D VPS37D subunit of ESCRT-I gene DOID:5419 schizophrenia ISO RGD:1349183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11932314 VPS37D VPS37D subunit of ESCRT-I gene DOID:630 genetic disease ISO RGD:1349183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932314 VPS37D VPS37D subunit of ESCRT-I gene DOID:8445 intestinal volvulus ISO RGD:1349183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11932314 VPS37D VPS37D subunit of ESCRT-I gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11932314 VPS37D VPS37D subunit of ESCRT-I gene DOID:9008419 Volvulus Of Midgut ISO RGD:1349183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11932324 DNAJC17 DnaJ heat shock protein family (Hsp40) member C17 gene DOID:2717 Bloom syndrome ISO RGD:1602696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11932324 DNAJC17 DnaJ heat shock protein family (Hsp40) member C17 gene DOID:630 genetic disease ISO RGD:1602696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11932324 DNAJC17 DnaJ heat shock protein family (Hsp40) member C17 gene DOID:9256 colorectal cancer ISO RGD:1602696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 11932345 GLCCI1 glucocorticoid induced 1 gene DOID:630 genetic disease ISO RGD:1347258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932356 REEP3 receptor accessory protein 3 gene DOID:0060224 atrial fibrillation ISO RGD:1603350 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 11932356 REEP3 receptor accessory protein 3 gene DOID:12849 autistic disorder ISO RGD:1603350 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17290275 11932356 REEP3 receptor accessory protein 3 gene DOID:630 genetic disease ISO RGD:1603350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932367 SLC35F4 solute carrier family 35 member F4 gene DOID:630 genetic disease ISO RGD:1351439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932381 MAB21L1 mab-21 like 1 gene DOID:12849 autistic disorder ISO RGD:1343203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11932381 MAB21L1 mab-21 like 1 gene DOID:630 genetic disease ISO RGD:1343203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932381 MAB21L1 mab-21 like 1 gene DOID:9008126 Cerebellar, Ocular, Craniofacial, and Genital Syndrome ISO RGD:1343203 D RGD:7240710 20190911 OMIM 11932381 MAB21L1 mab-21 like 1 gene DOID:9008126 Cerebellar, Ocular, Craniofacial, and Genital Syndrome ISO RGD:1343203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar, ocular, craniofacial, and genital syndrome PMID:23374822|PMID:27075597|PMID:27103078|PMID:30487245 11932387 THAP2 THAP domain containing 2 gene DOID:630 genetic disease ISO RGD:1349583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932394 FCF1 FCF1 rRNA-processing protein gene DOID:1059 intellectual disability ISO RGD:1322068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11932394 FCF1 FCF1 rRNA-processing protein gene DOID:630 genetic disease ISO RGD:1322068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932406 POPDC3 popeye domain containing 3 gene DOID:630 genetic disease ISO RGD:1343916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932406 POPDC3 popeye domain containing 3 gene DOID:9002441 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26 ISO RGD:1343916 D RGD:7240710 20200429 OMIM 11932406 POPDC3 popeye domain containing 3 gene DOID:9002441 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26 ISO RGD:1343916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 26 PMID:31610034 11932418 LOC100983724 olfactory receptor 11G2 gene DOID:630 genetic disease ISO RGD:1354303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932422 KIAA2013 KIAA2013 ortholog gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602668 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11932422 KIAA2013 KIAA2013 ortholog gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602668 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11932422 KIAA2013 KIAA2013 ortholog gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:1602668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 PMID:28492532 11932422 KIAA2013 KIAA2013 ortholog gene DOID:630 genetic disease ISO RGD:1602668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932422 KIAA2013 KIAA2013 ortholog gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1602668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 11932432 MIPEP mitochondrial intermediate peptidase gene DOID:0050700 cardiomyopathy ISO RGD:1344343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:27799064|PMID:28492532 11932432 MIPEP mitochondrial intermediate peptidase gene DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C ISO RGD:1344343 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2C PMID:18285821|PMID:28492532 11932432 MIPEP mitochondrial intermediate peptidase gene DOID:0111488 combined oxidative phosphorylation deficiency 31 ISO RGD:1344343 D RGD:7240710 20190315 OMIM 11932432 MIPEP mitochondrial intermediate peptidase gene DOID:0111488 combined oxidative phosphorylation deficiency 31 ISO RGD:1344343 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome PMID:24033266|PMID:25741868|PMID:26762739|PMID:27799064|PMID:28492532|PMID:33587123 11932432 MIPEP mitochondrial intermediate peptidase gene DOID:10907 microcephaly ISO RGD:1344343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11932432 MIPEP mitochondrial intermediate peptidase gene DOID:1826 epilepsy ISO RGD:1344343 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11932432 MIPEP mitochondrial intermediate peptidase gene DOID:5419 schizophrenia ISO RGD:1344343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11932432 MIPEP mitochondrial intermediate peptidase gene DOID:607 paraplegia ISO RGD:1344343 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11932432 MIPEP mitochondrial intermediate peptidase gene DOID:630 genetic disease ISO RGD:1344343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26762739|PMID:28492532|PMID:33587123 11932459 TESK1 testis associated actin remodelling kinase 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:732889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11932459 TESK1 testis associated actin remodelling kinase 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:732889 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11932459 TESK1 testis associated actin remodelling kinase 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:732889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11932459 TESK1 testis associated actin remodelling kinase 1 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:732889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11932459 TESK1 testis associated actin remodelling kinase 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:732889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11932459 TESK1 testis associated actin remodelling kinase 1 gene DOID:630 genetic disease ISO RGD:732889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932459 TESK1 testis associated actin remodelling kinase 1 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:732889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11932459 TESK1 testis associated actin remodelling kinase 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:732889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11932459 TESK1 testis associated actin remodelling kinase 1 gene DOID:9870 galactosemia ISO RGD:732889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11932478 PHKG1 phosphorylase kinase catalytic subunit gamma 1 gene DOID:0050724 PSPH deficiency ISO RGD:731844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency PMID:28492532 11932478 PHKG1 phosphorylase kinase catalytic subunit gamma 1 gene DOID:12849 autistic disorder ISO RGD:731844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11932478 PHKG1 phosphorylase kinase catalytic subunit gamma 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11932478 PHKG1 phosphorylase kinase catalytic subunit gamma 1 gene DOID:630 genetic disease ISO RGD:731844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932497 CD1B CD1b molecule gene DOID:1540 parathyroid carcinoma ISO RGD:1348815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11932497 CD1B CD1b molecule gene DOID:630 genetic disease ISO RGD:1348815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932497 CD1B CD1b molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11932507 MYH15 myosin heavy chain 15 gene DOID:630 genetic disease ISO RGD:1348086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932507 MYH15 myosin heavy chain 15 gene DOID:9000528 Coronary Disease ISO RGD:1348086 D RGD:9068941 20200609 RGD DNA:snp:exon:EX28T>C rs3900940 (human) PMID:18073581|REF_RGD_ID:2317145 11932507 MYH15 myosin heavy chain 15 gene DOID:9007096 Stroke ISO RGD:1348086 D RGD:9068941 20200609 RGD DNA:snp:exon:EX28T>C rs3900940 (human) PMID:19752551|REF_RGD_ID:2317144 11932553 SMIM43 small integral membrane protein 43 gene DOID:630 genetic disease ISO RGD:1604239 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932553 SMIM43 small integral membrane protein 43 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1604239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 11932553 SMIM43 small integral membrane protein 43 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11932553 SMIM43 small integral membrane protein 43 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604239 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 11932578 PPP4R4 protein phosphatase 4 regulatory subunit 4 gene DOID:0080054 achondrogenesis type IA ISO RGD:1344077 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11932578 PPP4R4 protein phosphatase 4 regulatory subunit 4 gene DOID:0081063 DICER1 syndrome ISO RGD:1344077 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 11932578 PPP4R4 protein phosphatase 4 regulatory subunit 4 gene DOID:630 genetic disease ISO RGD:1344077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932628 IGF2BP1 insulin like growth factor 2 mRNA binding protein 1 gene DOID:0050912 colon adenoma ISO RGD:1623845 D RGD:9068941 20201218 RGD PMID:26194191|REF_RGD_ID:11086893 11932628 IGF2BP1 insulin like growth factor 2 mRNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1606571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932628 IGF2BP1 insulin like growth factor 2 mRNA binding protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1606571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11932628 IGF2BP1 insulin like growth factor 2 mRNA binding protein 1 gene DOID:8566 herpes simplex ISO RGD:1623845 D RGD:9068941 20201218 RGD PMID:30050136|REF_RGD_ID:40902865 11932628 IGF2BP1 insulin like growth factor 2 mRNA binding protein 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1606571 D RGD:9068941 20220609 CTD CTD Direct Evidence: therapeutic PMID:34974052 11932656 ABHD17B abhydrolase domain containing 17B, depalmitoylase gene DOID:630 genetic disease ISO RGD:1313162 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932671 AMOT angiomotin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11932671 AMOT angiomotin gene DOID:12849 autistic disorder ISO RGD:1344662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11932671 AMOT angiomotin gene DOID:5419 schizophrenia ISO RGD:1344662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11932671 AMOT angiomotin gene DOID:630 genetic disease ISO RGD:1344662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11932671 AMOT angiomotin gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1344662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 11932671 AMOT angiomotin gene DOID:9007502 Brain Neoplasms ISO RGD:1344662 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 11932695 RGS2 regulator of G protein signaling 2 gene DOID:0050851 glomerulosclerosis susceptibility ISO RGD:621665 D RGD:9068941 20200609 RGD associated with Hypertension PMID:26606876|REF_RGD_ID:13524570 11932695 RGS2 regulator of G protein signaling 2 gene DOID:10763 hypertension ISO RGD:621665 D RGD:9068941 20200609 RGD PMID:17986358|REF_RGD_ID:2289116 11932695 RGS2 regulator of G protein signaling 2 gene DOID:10763 hypertension ISO RGD:732360 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1798635 11932695 RGS2 regulator of G protein signaling 2 gene DOID:10763 hypertension ISO RGD:732361 D RGD:9068941 20200609 RGD PMID:14608379|REF_RGD_ID:13524579 11932695 RGS2 regulator of G protein signaling 2 gene DOID:11206 opioid abuse ISO RGD:621665 D RGD:9068941 20200609 RGD PMID:19664213|REF_RGD_ID:13524573 11932695 RGS2 regulator of G protein signaling 2 gene DOID:13548 secondary Parkinson disease ISO RGD:732360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18347610 11932695 RGS2 regulator of G protein signaling 2 gene DOID:1540 parathyroid carcinoma ISO RGD:732360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11932695 RGS2 regulator of G protein signaling 2 gene DOID:365 bladder disease treatment ISO RGD:621665 D RGD:9068941 20200609 RGD associated with hypertension PMID:19689474|REF_RGD_ID:9684972 11932695 RGS2 regulator of G protein signaling 2 gene DOID:5082 liver cirrhosis ISO RGD:621665 D RGD:9068941 20200609 RGD PMID:19003918|REF_RGD_ID:10449440 11932695 RGS2 regulator of G protein signaling 2 gene DOID:630 genetic disease ISO RGD:732360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932695 RGS2 regulator of G protein signaling 2 gene DOID:724 female stress incontinence ISO RGD:621665 D RGD:9068941 20200609 RGD PMID:18372098|REF_RGD_ID:13524574 11932695 RGS2 regulator of G protein signaling 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:732360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11932695 RGS2 regulator of G protein signaling 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11932695 RGS2 regulator of G protein signaling 2 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:732360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:28774260 11932695 RGS2 regulator of G protein signaling 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 11932695 RGS2 regulator of G protein signaling 2 gene DOID:9119 acute myeloid leukemia ISO RGD:732360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11932695 RGS2 regulator of G protein signaling 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11932705 NRDE2 NRDE-2, necessary for RNA interference, domain containing gene DOID:0080054 achondrogenesis type IA ISO RGD:1351142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11932705 NRDE2 NRDE-2, necessary for RNA interference, domain containing gene DOID:0081324 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss ISO RGD:1351142 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss PMID:35861243 11932705 NRDE2 NRDE-2, necessary for RNA interference, domain containing gene DOID:630 genetic disease ISO RGD:1351142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932705 NRDE2 NRDE-2, necessary for RNA interference, domain containing gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11932741 MTRNR2L3 MT-RNR2 like 3 gene DOID:630 genetic disease ISO RGD:4105736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932764 TYW5 tRNA-yW synthesizing protein 5 gene DOID:630 genetic disease ISO RGD:1604998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932764 TYW5 tRNA-yW synthesizing protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11932779 LMLN leishmanolysin like peptidase gene DOID:10283 prostate cancer ISO RGD:1322938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11932779 LMLN leishmanolysin like peptidase gene DOID:630 genetic disease ISO RGD:1322938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932802 TRAPPC4 trafficking protein particle complex subunit 4 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1348300 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11932802 TRAPPC4 trafficking protein particle complex subunit 4 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1348300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11932802 TRAPPC4 trafficking protein particle complex subunit 4 gene DOID:0080690 RASopathy ISO RGD:1348300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11932802 TRAPPC4 trafficking protein particle complex subunit 4 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1348300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 11932802 TRAPPC4 trafficking protein particle complex subunit 4 gene DOID:0110651 long QT syndrome 10 ISO RGD:1348300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11932802 TRAPPC4 trafficking protein particle complex subunit 4 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1348300 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11932802 TRAPPC4 trafficking protein particle complex subunit 4 gene DOID:0111971 immunodeficiency 18 ISO RGD:1348300 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11932802 TRAPPC4 trafficking protein particle complex subunit 4 gene DOID:0111972 immunodeficiency 19 ISO RGD:1348300 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11932802 TRAPPC4 trafficking protein particle complex subunit 4 gene DOID:0111973 immunodeficiency 17 ISO RGD:1348300 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11932802 TRAPPC4 trafficking protein particle complex subunit 4 gene DOID:5419 schizophrenia ISO RGD:1348300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11932802 TRAPPC4 trafficking protein particle complex subunit 4 gene DOID:630 genetic disease ISO RGD:1348300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932802 TRAPPC4 trafficking protein particle complex subunit 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1348300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11932802 TRAPPC4 trafficking protein particle complex subunit 4 gene DOID:9006140 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies ISO RGD:1348300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies PMID:25741868|PMID:31794024|PMID:32125366|PMID:32901138 11932802 TRAPPC4 trafficking protein particle complex subunit 4 gene DOID:9006238 Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy ISO RGD:1348300 D RGD:7240710 20200318 OMIM 11932802 TRAPPC4 trafficking protein particle complex subunit 4 gene DOID:9006238 Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy ISO RGD:1348300 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy PMID:25741868|PMID:31794024|PMID:32125366|PMID:32901138|PMID:34878169 11932802 TRAPPC4 trafficking protein particle complex subunit 4 gene DOID:9007661 Dwarfism ISO RGD:1348300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11932811 MICU3 mitochondrial calcium uptake family member 3 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1344142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 11932811 MICU3 mitochondrial calcium uptake family member 3 gene DOID:630 genetic disease ISO RGD:1344142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932830 PAK6 p21 (RAC1) activated kinase 6 gene DOID:0080141 mosaic variegated aneuploidy syndrome 1 ISO RGD:1314703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 PMID:28492532 11932830 PAK6 p21 (RAC1) activated kinase 6 gene DOID:10126 keratoconus ISO RGD:1314703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 11932830 PAK6 p21 (RAC1) activated kinase 6 gene DOID:2717 Bloom syndrome ISO RGD:1314703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11932830 PAK6 p21 (RAC1) activated kinase 6 gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:1314703 D RGD:9068941 20200609 RGD PMID:24715215|REF_RGD_ID:13506722 11932830 PAK6 p21 (RAC1) activated kinase 6 gene DOID:630 genetic disease ISO RGD:1314703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932830 PAK6 p21 (RAC1) activated kinase 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314703 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18642328 11932830 PAK6 p21 (RAC1) activated kinase 6 gene DOID:9256 colorectal cancer ISO RGD:1314703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11932844 PPP1R10 protein phosphatase 1 regulatory subunit 10 gene DOID:1059 intellectual disability ISO RGD:732967 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability, moderate PMID:25741868 11932844 PPP1R10 protein phosphatase 1 regulatory subunit 10 gene DOID:11372 megacolon ISO RGD:732967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11932844 PPP1R10 protein phosphatase 1 regulatory subunit 10 gene DOID:630 genetic disease ISO RGD:732967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932880 FBXW11 F-box and WD repeat domain containing 11 gene DOID:630 genetic disease ISO RGD:1319284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932880 FBXW11 F-box and WD repeat domain containing 11 gene DOID:9003225 NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME ISO RGD:1319284 D RGD:7240710 20201111 OMIM 11932880 FBXW11 F-box and WD repeat domain containing 11 gene DOID:9003225 NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME ISO RGD:1319284 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental, jaw, eye, and digital syndrome PMID:25741868|PMID:28492532|PMID:31402090 11932912 NAA16 N-alpha-acetyltransferase 16, NatA auxiliary subunit gene DOID:630 genetic disease ISO RGD:1606244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932937 NOLC1 nucleolar and coiled-body phosphoprotein 1 gene DOID:630 genetic disease ISO RGD:1354376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932954 CIMIP2B ciliary microtubule inner protein 2B gene DOID:0050778 Meckel syndrome ISO RGD:2293907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome 11932954 CIMIP2B ciliary microtubule inner protein 2B gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:2293907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11932954 CIMIP2B ciliary microtubule inner protein 2B gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:2293907 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11932954 CIMIP2B ciliary microtubule inner protein 2B gene DOID:0080942 anauxetic dysplasia ISO RGD:2293907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11932954 CIMIP2B ciliary microtubule inner protein 2B gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:2293907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11932954 CIMIP2B ciliary microtubule inner protein 2B gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:2293907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11932954 CIMIP2B ciliary microtubule inner protein 2B gene DOID:630 genetic disease ISO RGD:2293907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11932954 CIMIP2B ciliary microtubule inner protein 2B gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:2293907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11932954 CIMIP2B ciliary microtubule inner protein 2B gene DOID:9562 primary ciliary dyskinesia ISO RGD:2293907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11932954 CIMIP2B ciliary microtubule inner protein 2B gene DOID:9870 galactosemia ISO RGD:2293907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11932967 RRAS RAS related gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1322910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26457647 11932967 RRAS RAS related gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1322910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11932967 RRAS RAS related gene DOID:0080600 COVID-19 ISO RGD:1322910 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11932967 RRAS RAS related gene DOID:3490 Noonan syndrome ISO RGD:1322910 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:17576681|PMID:24033266|PMID:24705357|PMID:25741868|PMID:28492532|PMID:28875981|PMID:9536098 11932967 RRAS RAS related gene DOID:630 genetic disease ISO RGD:1322910 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11932967 RRAS RAS related gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11932978 LMBR1 limb development membrane protein 1 gene DOID:0050603 acheiropody ISO RGD:1352056 D RGD:7240710 20180130 OMIM 11932978 LMBR1 limb development membrane protein 1 gene DOID:0050603 acheiropody ISO RGD:1352056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acheiropodia PMID:11090342|PMID:33863876 11932978 LMBR1 limb development membrane protein 1 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1352056 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:22354285|PMID:22683912|PMID:23370340|PMID:24095820|PMID:28284480|PMID:28492532|PMID:28588853|PMID:29983323|PMID:29992659|PMID:31334757|PMID:32677110 11932978 LMBR1 limb development membrane protein 1 gene DOID:0111350 Laurin-Sandrow syndrome ISO RGD:1352056 D RGD:7240710 20180130 OMIM 11932978 LMBR1 limb development membrane protein 1 gene DOID:0111350 Laurin-Sandrow syndrome ISO RGD:1352056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Laurin-Sandrow syndrome PMID:16059937|PMID:24456159 11932978 LMBR1 limb development membrane protein 1 gene DOID:0111564 hypoplastic or aplastic tibia with polydactyly ISO RGD:1352056 D RGD:7240710 20180130 OMIM 11932978 LMBR1 limb development membrane protein 1 gene DOID:0111564 hypoplastic or aplastic tibia with polydactyly ISO RGD:1352056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tibia, hypoplasia or aplasia of, with polydactyly PMID:12837695|PMID:18156157|PMID:19847792|PMID:24777739|PMID:24965254|PMID:28492532|PMID:29651423|PMID:7726219|PMID:9950363 11932978 LMBR1 limb development membrane protein 1 gene DOID:0111818 syndactyly type 4 ISO RGD:1352056 D RGD:7240710 20180130 OMIM 11932978 LMBR1 limb development membrane protein 1 gene DOID:0111818 syndactyly type 4 ISO RGD:1352056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndactyly type 4 PMID:18417549|PMID:1849351|PMID:19847792 11932978 LMBR1 limb development membrane protein 1 gene DOID:12849 autistic disorder ISO RGD:1352056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11932978 LMBR1 limb development membrane protein 1 gene DOID:630 genetic disease ISO RGD:1352056 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11932978 LMBR1 limb development membrane protein 1 gene DOID:9001425 Triphalangeal Thumb ISO RGD:1352056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Triphalangeal thumb PMID:10937618|PMID:12837695|PMID:17152067|PMID:18463159|PMID:24777739|PMID:28492532|PMID:29651423 11932978 LMBR1 limb development membrane protein 1 gene DOID:9003769 Patterson Stevenson Syndrome ISO RGD:1352056 D RGD:7240710 20221102 OMIM 11932978 LMBR1 limb development membrane protein 1 gene DOID:9003769 Patterson Stevenson Syndrome ISO RGD:1352056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: POLYDACTYLY OF TRIPHALANGEAL THUMB | ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME | ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome PMID:10937618|PMID:12837695|PMID:17152067|PMID:17300748|PMID:18178630|PMID:18417549|PMID:18463159|PMID:19519794|PMID:20569257|PMID:24777739|PMID:28492532|PMID:29651423|PMID:8012392 11932978 LMBR1 limb development membrane protein 1 gene DOID:9007798 Preaxial Polydactyly II ISO RGD:1352056 D RGD:7240710 20180130 OMIM 11932978 LMBR1 limb development membrane protein 1 gene DOID:9007798 Preaxial Polydactyly II ISO RGD:1352056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: POLYDACTYLY OF TRIPHALANGEAL THUMB | ClinVar Annotator: match by term: Polydactyly, preaxial II PMID:10937618|PMID:12837695|PMID:17152067|PMID:18463159|PMID:19519794|PMID:20569257|PMID:24777739|PMID:28492532|PMID:29651423|PMID:8012392 11933047 BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB gene DOID:0080580 3-Methylcrotonyl-CoA carboxylase 2 deficiency ISO RGD:1318324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 2 deficiency PMID:28492532 11933047 BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB gene DOID:0111637 autosomal recessive nonsyndromic deafness 112 ISO RGD:1318324 D RGD:7240710 20190315 OMIM 11933047 BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB gene DOID:0111637 autosomal recessive nonsyndromic deafness 112 ISO RGD:1318324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 112 PMID:24312468|PMID:25741868 11933047 BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB gene DOID:630 genetic disease ISO RGD:1318324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11933047 BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11933047 BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB gene DOID:9004538 Hearing Loss ISO RGD:1318324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 11933047 BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB gene DOID:9008681 Deafness ISO RGD:1318324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness 11933107 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:732873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 11933107 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:12351 alcoholic hepatitis treatment ISO RGD:621032 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 11933107 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:1561 cognitive disorder ISO RGD:732873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 11933107 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:1852 intrahepatic cholestasis ISO RGD:621032 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:18578998|REF_RGD_ID:2311605 11933107 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:3883 Lynch syndrome ISO RGD:732873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:11136233|PMID:20233523|PMID:28492532|PMID:33094510 11933107 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:3883 Lynch syndrome ISO RGD:732873 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer PMID:11136233|PMID:20233523|PMID:25741868|PMID:28492532|PMID:33094510 11933107 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:630 genetic disease ISO RGD:732873 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11933107 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:684 hepatocellular carcinoma ISO RGD:732873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23811326 11933107 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 11933107 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:9002661 Diabetes Complications ISO RGD:732873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 11933107 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732873 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29943110 11933107 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:9351 diabetes mellitus ISO RGD:621032 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreatic islet PMID:17259388|REF_RGD_ID:2311606 11933107 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732873 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple PMID:18781616|REF_RGD_ID:2311604 11933107 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:9452 fatty liver disease ISO RGD:732873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27664470 11933107 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:9455 lipid storage disease ISO RGD:732873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414|PMID:17175557 11933107 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:9970 obesity ISO RGD:732873 D RGD:7240710 20180130 OMIM 11933107 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:9970 obesity ISO RGD:732873 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, mild, early-onset PMID:11136233|PMID:20233523|PMID:25741868|PMID:28492532|PMID:33094510 11933113 MMP7 matrix metallopeptidase 7 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:736005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 11933113 MMP7 matrix metallopeptidase 7 gene DOID:0060071 pre-malignant neoplasm ISO RGD:10906 D RGD:9068941 20200609 RGD PMID:9850086|REF_RGD_ID:9685350 11933113 MMP7 matrix metallopeptidase 7 gene DOID:0080365 endometrial hyperplasia ISO RGD:736005 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:17352221|REF_RGD_ID:2298522 11933113 MMP7 matrix metallopeptidase 7 gene DOID:10283 prostate cancer ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:15894268|REF_RGD_ID:9685352 11933113 MMP7 matrix metallopeptidase 7 gene DOID:10286 prostate carcinoma ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:11406539|REF_RGD_ID:1582381 11933113 MMP7 matrix metallopeptidase 7 gene DOID:1059 intellectual disability ISO RGD:736005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11933113 MMP7 matrix metallopeptidase 7 gene DOID:1073 renal hypertension ISO RGD:3100 D RGD:9068941 20200609 RGD protein:increased expression:kidney medulla PMID:12923405|REF_RGD_ID:1302333 11933113 MMP7 matrix metallopeptidase 7 gene DOID:10763 hypertension ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:19398663|REF_RGD_ID:9685347 11933113 MMP7 matrix metallopeptidase 7 gene DOID:10763 hypertension treatment ISO RGD:10906 D RGD:9068941 20200609 RGD PMID:19398663|REF_RGD_ID:9685347 11933113 MMP7 matrix metallopeptidase 7 gene DOID:10763 hypertension treatment ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:19398663|REF_RGD_ID:9685347 11933113 MMP7 matrix metallopeptidase 7 gene DOID:12704 ataxia telangiectasia ISO RGD:736005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11933113 MMP7 matrix metallopeptidase 7 gene DOID:1380 endometrial cancer disease_progression ISO RGD:736005 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:17352221|REF_RGD_ID:2298522 11933113 MMP7 matrix metallopeptidase 7 gene DOID:13948 bladder neck obstruction treatment ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:23313213|REF_RGD_ID:7257549 11933113 MMP7 matrix metallopeptidase 7 gene DOID:2957 pulmonary tuberculosis ISO RGD:736005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24890593 11933113 MMP7 matrix metallopeptidase 7 gene DOID:3068 glioblastoma severity ISO RGD:736005 D RGD:9068941 20200609 RGD protein:increased expression:brain (human) PMID:7616276|REF_RGD_ID:7207145 11933113 MMP7 matrix metallopeptidase 7 gene DOID:3908 lung non-small cell carcinoma ISO RGD:736005 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19596921|REF_RGD_ID:5129528 11933113 MMP7 matrix metallopeptidase 7 gene DOID:4247 coronary restenosis treatment ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:21139058|REF_RGD_ID:9685362 11933113 MMP7 matrix metallopeptidase 7 gene DOID:5199 ureteral obstruction ISO RGD:736005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 11933113 MMP7 matrix metallopeptidase 7 gene DOID:5844 myocardial infarction ISO RGD:10906 D RGD:9068941 20200609 RGD PMID:16769909|REF_RGD_ID:1582373 11933113 MMP7 matrix metallopeptidase 7 gene DOID:630 genetic disease ISO RGD:736005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933113 MMP7 matrix metallopeptidase 7 gene DOID:9000217 Stomach Neoplasms ISO RGD:736005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25847246 11933113 MMP7 matrix metallopeptidase 7 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:21567117|PMID:21935365|REF_RGD_ID:9685338|REF_RGD_ID:9685370 11933113 MMP7 matrix metallopeptidase 7 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:17027671|REF_RGD_ID:2325934 11933113 MMP7 matrix metallopeptidase 7 gene DOID:9001600 Wounds and Injuries ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:9888422|REF_RGD_ID:9685353 11933113 MMP7 matrix metallopeptidase 7 gene DOID:9002055 Chronic Allograft Nephropathy treatment ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:18209025|REF_RGD_ID:9685339 11933113 MMP7 matrix metallopeptidase 7 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:9549496|REF_RGD_ID:8547909 11933113 MMP7 matrix metallopeptidase 7 gene DOID:9002801 Recurrence ISO RGD:736005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25596746 11933113 MMP7 matrix metallopeptidase 7 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:10906 D RGD:9068941 20200609 RGD PMID:23100416|REF_RGD_ID:9685340 11933113 MMP7 matrix metallopeptidase 7 gene DOID:9002928 Colonic Neoplasms ISO RGD:736005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 11933113 MMP7 matrix metallopeptidase 7 gene DOID:9003139 Cardiac Fibrosis ISO RGD:3100 D RGD:9068941 20200609 RGD associated with Heart Failure PMID:12875773|REF_RGD_ID:9685341 11933113 MMP7 matrix metallopeptidase 7 gene DOID:9003281 Spontaneous Abortions ISO RGD:736005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11933113 MMP7 matrix metallopeptidase 7 gene DOID:9004610 Acute Lung Injury ISO RGD:3100 D RGD:9068941 20200609 RGD associated with Sepsis PMID:21567117|REF_RGD_ID:9685338 11933113 MMP7 matrix metallopeptidase 7 gene DOID:9005172 Lung Neoplasms ISO RGD:736005 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19596921|REF_RGD_ID:5129528 11933113 MMP7 matrix metallopeptidase 7 gene DOID:9005233 Experimental Mammary Neoplasms onset ISO RGD:10906 D RGD:9068941 20200609 RGD PMID:9850086|REF_RGD_ID:9685350 11933113 MMP7 matrix metallopeptidase 7 gene DOID:9005396 Intimal Hyperplasia ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:20098355|REF_RGD_ID:9685369 11933113 MMP7 matrix metallopeptidase 7 gene DOID:9006081 Osteolysis ISO RGD:10906 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:15894268|REF_RGD_ID:9685352 11933113 MMP7 matrix metallopeptidase 7 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:9546322|REF_RGD_ID:9685357 11933113 MMP7 matrix metallopeptidase 7 gene DOID:9007730 Burns ISO RGD:3100 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum PMID:15182445|REF_RGD_ID:9685358 11933123 GLIS2 GLIS family zinc finger 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1345602 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11933123 GLIS2 GLIS family zinc finger 2 gene DOID:0111112 nephronophthisis 1 ISO RGD:1345602 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 11933123 GLIS2 GLIS family zinc finger 2 gene DOID:0111116 nephronophthisis 7 ISO RGD:1345602 D RGD:7240710 20180130 OMIM 11933123 GLIS2 GLIS family zinc finger 2 gene DOID:0111116 nephronophthisis 7 ISO RGD:1345602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis 7 PMID:17618285|PMID:23559409|PMID:25741868|PMID:26374130|PMID:28492532 11933123 GLIS2 GLIS family zinc finger 2 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1345602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 11933123 GLIS2 GLIS family zinc finger 2 gene DOID:1059 intellectual disability ISO RGD:1345602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11933123 GLIS2 GLIS family zinc finger 2 gene DOID:12712 nephronophthisis ISO RGD:1345602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:17618285|PMID:23559409|PMID:25741868|PMID:26374130|PMID:28492532 11933123 GLIS2 GLIS family zinc finger 2 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1345602 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868 11933123 GLIS2 GLIS family zinc finger 2 gene DOID:1682 congenital heart disease ISO RGD:1345602 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 11933123 GLIS2 GLIS family zinc finger 2 gene DOID:1826 epilepsy ISO RGD:1345602 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11933123 GLIS2 GLIS family zinc finger 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1345602 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11933123 GLIS2 GLIS family zinc finger 2 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1345602 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 PMID:12114483|PMID:15706485|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 11933123 GLIS2 GLIS family zinc finger 2 gene DOID:557 kidney disease ISO RGD:1345602 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 11933123 GLIS2 GLIS family zinc finger 2 gene DOID:630 genetic disease ISO RGD:1345602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11933123 GLIS2 GLIS family zinc finger 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345602 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11933140 IPMK inositol polyphosphate multikinase gene DOID:630 genetic disease ISO RGD:737355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933177 LANCL2 LanC like glutathione S-transferase 2 gene DOID:12849 autistic disorder ISO RGD:1321926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11933177 LANCL2 LanC like glutathione S-transferase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11933177 LANCL2 LanC like glutathione S-transferase 2 gene DOID:630 genetic disease ISO RGD:1321926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933190 HMGXB4 HMG-box containing 4 gene DOID:630 genetic disease ISO RGD:1314021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933206 SGIP1 SH3GL interacting endocytic adaptor 1 gene DOID:1059 intellectual disability ISO RGD:1346308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11933206 SGIP1 SH3GL interacting endocytic adaptor 1 gene DOID:630 genetic disease ISO RGD:1346308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933260 GIPC2 GIPC PDZ domain containing family member 2 gene DOID:630 genetic disease ISO RGD:1603220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933277 USP27X ubiquitin specific peptidase 27 X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11933277 USP27X ubiquitin specific peptidase 27 X-linked gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1350698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 11933277 USP27X ubiquitin specific peptidase 27 X-linked gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1350698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11933277 USP27X ubiquitin specific peptidase 27 X-linked gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1350698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11933277 USP27X ubiquitin specific peptidase 27 X-linked gene DOID:0112036 non-syndromic X-linked intellectual disability 105 ISO RGD:1350698 D RGD:7240710 20190315 OMIM 11933277 USP27X ubiquitin specific peptidase 27 X-linked gene DOID:0112036 non-syndromic X-linked intellectual disability 105 ISO RGD:1350698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 105 PMID:25644381|PMID:25741868 11933277 USP27X ubiquitin specific peptidase 27 X-linked gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1350698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11933277 USP27X ubiquitin specific peptidase 27 X-linked gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1350698 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 11933277 USP27X ubiquitin specific peptidase 27 X-linked gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1350698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 11933277 USP27X ubiquitin specific peptidase 27 X-linked gene DOID:12849 autistic disorder ISO RGD:1350698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11933277 USP27X ubiquitin specific peptidase 27 X-linked gene DOID:630 genetic disease ISO RGD:1350698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933277 USP27X ubiquitin specific peptidase 27 X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11933283 LOC100979972 cytochrome c oxidase subunit 7C, mitochondrial gene DOID:10652 Alzheimer's disease ISO RGD:1353652 D RGD:9068941 20200609 RGD PMID:28474567|REF_RGD_ID:13792588 11933283 LOC100979972 cytochrome c oxidase subunit 7C, mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11933283 LOC100979972 cytochrome c oxidase subunit 7C, mitochondrial gene DOID:9970 obesity ISO RGD:1353652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 11933290 FGD3 FYVE, RhoGEF and PH domain containing 3 gene DOID:630 genetic disease ISO RGD:1323332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933322 LOC100982553 olfactory receptor 6P1 gene DOID:1540 parathyroid carcinoma ISO RGD:1347277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11933322 LOC100982553 olfactory receptor 6P1 gene DOID:630 genetic disease ISO RGD:1347277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933322 LOC100982553 olfactory receptor 6P1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11933330 GZMA granzyme A gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1348122 D RGD:9068941 20200609 RGD PMID:20047264|REF_RGD_ID:5135520 11933330 GZMA granzyme A gene DOID:630 genetic disease ISO RGD:1348122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933330 GZMA granzyme A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11933330 GZMA granzyme A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11933339 UNC79 unc-79 homolog, NALCN channel complex subunit gene DOID:0060041 autism spectrum disorder ISO RGD:1322833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11933339 UNC79 unc-79 homolog, NALCN channel complex subunit gene DOID:0080054 achondrogenesis type IA ISO RGD:1322833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11933339 UNC79 unc-79 homolog, NALCN channel complex subunit gene DOID:0081063 DICER1 syndrome ISO RGD:1322833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 11933339 UNC79 unc-79 homolog, NALCN channel complex subunit gene DOID:10283 prostate cancer ISO RGD:1322833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11933339 UNC79 unc-79 homolog, NALCN channel complex subunit gene DOID:630 genetic disease ISO RGD:1322833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933410 DMGDH dimethylglycine dehydrogenase gene DOID:630 genetic disease ISO RGD:731431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933410 DMGDH dimethylglycine dehydrogenase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:731431 D RGD:9068941 20220616 RGD associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 11933410 DMGDH dimethylglycine dehydrogenase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11933410 DMGDH dimethylglycine dehydrogenase gene DOID:9005574 Dimethylglycine Dehydrogenase Deficiency ISO RGD:731431 D RGD:7240710 20180130 OMIM 11933410 DMGDH dimethylglycine dehydrogenase gene DOID:9005574 Dimethylglycine Dehydrogenase Deficiency ISO RGD:731431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dimethylglycine dehydrogenase deficiency PMID:10102904|PMID:10767172|PMID:11231903|PMID:25741868|PMID:28492532 11933435 SEMA6D semaphorin 6D gene DOID:14323 Marfan syndrome ISO RGD:1605040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868 11933435 SEMA6D semaphorin 6D gene DOID:2717 Bloom syndrome ISO RGD:1605040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11933435 SEMA6D semaphorin 6D gene DOID:303 substance-related disorder ISO RGD:1605040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11933435 SEMA6D semaphorin 6D gene DOID:630 genetic disease ISO RGD:1605040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933435 SEMA6D semaphorin 6D gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11933435 SEMA6D semaphorin 6D gene DOID:9256 colorectal cancer ISO RGD:1605040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11933480 HTR1E 5-hydroxytryptamine receptor 1E gene DOID:630 genetic disease ISO RGD:1350220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933485 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:0050902 medulloblastoma ISO RGD:1322330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 11933485 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:0070004 myeloid neoplasm ISO RGD:1322330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29047144 11933485 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:0090118 congenital amegakaryocytic thrombocytopenia ISO RGD:1322330 D RGD:7240710 20180130 OMIM 11933485 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:0090118 congenital amegakaryocytic thrombocytopenia ISO RGD:1322330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital amegakaryocytic thrombocytopenia PMID:10077649|PMID:10971406|PMID:11071383|PMID:11133753|PMID:11392330|PMID:11972523|PMID:15269348|PMID:15531462|PMID:16199547|PMID:16219544|PMID:16470591|PMID:16834459|PMID:16868251|PMID:17034029|PMID:17054430|PMID:17576681|PMID:17666371|PMID:18090929|PMID:18240171|PMID:18422784|PMID:18451306|PMID:18769448|PMID:19036112|PMID:19302922|PMID:19388932|PMID:20113333|PMID:20188141|PMID:21162090|PMID:21225925|PMID:21228398|PMID:21326037|PMID:21489838|PMID:21659346|PMID:22180433|PMID:22389068|PMID:23103231|PMID:23625800|PMID:23908116|PMID:24033266|PMID:24119002|PMID:24438083|PMID:24728327|PMID:25023898|PMID:25538044|PMID:25741868|PMID:26316487|PMID:26423830|PMID:26854587|PMID:27069254|PMID:27100302|PMID:27418648|PMID:27449473|PMID:28492532|PMID:28697167|PMID:28823277|PMID:28859041|PMID:29384262|PMID:29625052|PMID:30840646|PMID:30886832|PMID:31064749|PMID:31249973|PMID:31294534|PMID:32581362|PMID:32581363|PMID:32703794|PMID:34573280|PMID:35314707|PMID:35477182|PMID:8073287|PMID:9536098|PMID:971406 11933485 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1322330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11933485 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:1588 thrombocytopenia ISO RGD:1322330 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10971406|PMID:11133753|PMID:11972523|PMID:16199547|PMID:16470591|PMID:18240171|PMID:18422784|PMID:19302922|PMID:21225925|PMID:21489838|PMID:21659346|PMID:24033266|PMID:24119002|PMID:24438083|PMID:24728327|PMID:25538044|PMID:25741868|PMID:26854587|PMID:28492532|PMID:28859041|PMID:31064749|PMID:32581362|PMID:8073287|PMID:971406 11933485 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:1588 thrombocytopenia ameliorates ISO RGD:1322330 D RGD:9068941 20210521 RGD associated with End Stage Liver Disease PMID:32841939|REF_RGD_ID:126925754 11933485 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:1883 hepatitis C ISO RGD:1322330 D RGD:9068941 20210521 RGD mRNA:decreased expression:liver (human) PMID:23157389|REF_RGD_ID:126925755 11933485 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:2043 hepatitis B ISO RGD:1322330 D RGD:9068941 20210521 RGD mRNA:decreased expression:liver (human) PMID:23157389|REF_RGD_ID:126925755 11933485 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:2213 hemorrhagic disease ISO RGD:1322330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:11972523|PMID:16470591|PMID:21659346|PMID:24728327|PMID:25741868|PMID:28492532|PMID:28859041|PMID:32703794 11933485 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:2224 essential thrombocythemia ISO RGD:1322330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Essential thrombocythemia | ClinVar Annotator: match by term: Thrombocythemia 1 PMID:11133753|PMID:14764528|PMID:15269348|PMID:15531462|PMID:16199547|PMID:16470591|PMID:17054430|PMID:17666371|PMID:18451306|PMID:18528423|PMID:19483125|PMID:19608689|PMID:20151976|PMID:21489838|PMID:23970983|PMID:24033266|PMID:24438083|PMID:24728327|PMID:25741868|PMID:27069254|PMID:28492532|PMID:28697167|PMID:31064749|PMID:8073287 11933485 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:2226 myeloproliferative neoplasm ISO RGD:1322330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm PMID:14764528|PMID:18451306|PMID:18528423|PMID:19483125|PMID:19608689|PMID:20151976|PMID:21228032|PMID:23970983|PMID:25741868 11933485 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:2228 thrombocytosis ISO RGD:1322330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15813844|PMID:16484586 11933485 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:2228 thrombocytosis ISO RGD:1322330 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.317C > T,p.P106L(human) PMID:19036112|REF_RGD_ID:11073684 11933485 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:4971 myelofibrosis ISO RGD:1322330 D RGD:7240710 20180130 OMIM 11933485 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:4971 myelofibrosis ISO RGD:1322330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myelofibrosis with myeloid metaplasia | ClinVar Annotator: match by term: Primary myelofibrosis PMID:10971406|PMID:11071383|PMID:11133753|PMID:14764528|PMID:16199547|PMID:16470591|PMID:16834459|PMID:16868251|PMID:17666371|PMID:18451306|PMID:18528423|PMID:18769448|PMID:19483125|PMID:19608689|PMID:20113333|PMID:20151976|PMID:21326037|PMID:21489838|PMID:23625800|PMID:23970983|PMID:24033266|PMID:24728327|PMID:25023898|PMID:25741868|PMID:28492532|PMID:28823277|PMID:31064749|PMID:31294534|PMID:32703794|PMID:35477182|PMID:8073287 11933485 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:630 genetic disease ISO RGD:1322330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11933485 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:684 hepatocellular carcinoma ISO RGD:1322331 D RGD:9068941 20210521 RGD human cells in mouse model PMID:23157389|REF_RGD_ID:126925755 11933485 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:8692 myeloid leukemia ISO RGD:1322330 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:10621836|REF_RGD_ID:10449009 11933485 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:9000940 Thrombocytosis, Benign Familial Microcytic ISO RGD:1322330 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thrombocytosis, benign familial microcytic PMID:11133753|PMID:16199547|PMID:16470591|PMID:21489838|PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532|PMID:31064749|PMID:8073287 11933485 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:9006532 Hematologic Neoplasms ISO RGD:1322330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hematologic neoplasm PMID:16834459|PMID:16868251|PMID:18769448|PMID:20113333|PMID:21326037|PMID:25023898|PMID:25741868|PMID:28492532|PMID:28823277|PMID:31294534 11933485 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:9006618 Liver Metastasis ISO RGD:1322331 D RGD:9068941 20210820 RGD associated with pancreatic ductal adenocarcinoma; human cells in mouse model PMID:30770989|REF_RGD_ID:126925751 11933485 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:9006618 Liver Metastasis exacerbates ISO RGD:1322330 D RGD:9068941 20210521 RGD associated with pancreatic cancer; protein:increased expression:liver, pancreas (human) PMID:30770989|REF_RGD_ID:126925751 11933485 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:9006618 Liver Metastasis severity ISO RGD:1322330 D RGD:9068941 20210820 RGD associated with colorectal carcinoma;protein:increased expression:colorectum (human) PMID:23747337|REF_RGD_ID:126925752 11933485 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:9007879 Thrombocythemia 2 ISO RGD:1322330 D RGD:7240710 20180130 OMIM 11933485 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:9007879 Thrombocythemia 2 ISO RGD:1322330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocythemia 2 | ClinVar Annotator: match by term: Thrombocythemia 2, somatic PMID:11133753|PMID:14764528|PMID:15269348|PMID:16199547|PMID:16470591|PMID:16834459|PMID:16868251|PMID:18451306|PMID:18528423|PMID:18769448|PMID:19036112|PMID:19483125|PMID:19608689|PMID:20113333|PMID:20151976|PMID:21326037|PMID:21489838|PMID:23970983|PMID:24033266|PMID:24728327|PMID:25023898|PMID:25538044|PMID:25741868|PMID:27069254|PMID:28492532|PMID:28823277|PMID:31064749|PMID:31294534|PMID:34573280|PMID:8073287 11933485 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:9008163 Chronic Hepatitis B ISO RGD:1322330 D RGD:9068941 20210820 RGD protein:decreased expression:blood serum (human) PMID:28871230|REF_RGD_ID:150340590 11933502 FAAP20 FA core complex associated protein 20 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11933502 FAAP20 FA core complex associated protein 20 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11933502 FAAP20 FA core complex associated protein 20 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1604208 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11933502 FAAP20 FA core complex associated protein 20 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1604208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11933502 FAAP20 FA core complex associated protein 20 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1604208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11933502 FAAP20 FA core complex associated protein 20 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1604208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11933502 FAAP20 FA core complex associated protein 20 gene DOID:0111934 immunodeficiency 38 ISO RGD:1604208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11933502 FAAP20 FA core complex associated protein 20 gene DOID:0111935 immunodeficiency 16 ISO RGD:1604208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11933502 FAAP20 FA core complex associated protein 20 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11933502 FAAP20 FA core complex associated protein 20 gene DOID:630 genetic disease ISO RGD:1604208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933502 FAAP20 FA core complex associated protein 20 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11933502 FAAP20 FA core complex associated protein 20 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1604208 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11933502 FAAP20 FA core complex associated protein 20 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1604208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11933516 HAS2 hyaluronan synthase 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:732743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11933516 HAS2 hyaluronan synthase 2 gene DOID:2987 familial Mediterranean fever ISO RGD:12177236 D RGD:9068941 20230406 OMIA Periodic Fever Syndrome PMID:1606750|PMID:20080661|PMID:20178474|PMID:21437276|PMID:21718367|PMID:24130694|PMID:25040095|PMID:27107962|PMID:28472921|PMID:36978210 11933516 HAS2 hyaluronan synthase 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:2781 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:11283406|REF_RGD_ID:9588631 11933516 HAS2 hyaluronan synthase 2 gene DOID:630 genetic disease ISO RGD:732743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933516 HAS2 hyaluronan synthase 2 gene DOID:6432 pulmonary hypertension ISO RGD:2781 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19915162|REF_RGD_ID:9588633 11933516 HAS2 hyaluronan synthase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2781 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:renal medulla PMID:18441392|REF_RGD_ID:9588630 11933516 HAS2 hyaluronan synthase 2 gene DOID:9003936 Cardiomegaly ISO RGD:2781 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:18196276|REF_RGD_ID:2289364 11933516 HAS2 hyaluronan synthase 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2781 D RGD:9068941 20200609 RGD PMID:22529164|REF_RGD_ID:9588636 11933516 HAS2 hyaluronan synthase 2 gene DOID:9409 diabetes insipidus ISO RGD:2781 D RGD:9068941 20200609 RGD PMID:19496322|REF_RGD_ID:9588637 11933528 PROCA1 protein interacting with cyclin A1 gene DOID:630 genetic disease ISO RGD:1603267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933563 PHEX phosphate regulating endopeptidase X-linked gene DOID:0050336 hypophosphatemia ISO RGD:733664 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypophosphatemia PMID:25741868 11933563 PHEX phosphate regulating endopeptidase X-linked gene DOID:0050445 X-linked dominant hypophosphatemic rickets ISO RGD:733664 D RGD:7240710 20180130 OMIM 11933563 PHEX phosphate regulating endopeptidase X-linked gene DOID:0050445 X-linked dominant hypophosphatemic rickets ISO RGD:733664 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets | ClinVar Annotator: match by term: Vitamin D-resistant rickets, X-linked PMID:10439971|PMID:10737991|PMID:11004247|PMID:11468271|PMID:11502821|PMID:11502829|PMID:12414858|PMID:12727977|PMID:14564066|PMID:14564077|PMID:16055933|PMID:16199547|PMID:16303832|PMID:16636593|PMID:17576681|PMID:18162710|PMID:18252791|PMID:18625346|PMID:188828|PMID:19219621|PMID:19513579|PMID:21050253|PMID:21902834|PMID:21994957|PMID:22101457|PMID:22261628|PMID:22527485|PMID:22577109|PMID:22695891|PMID:23079138|PMID:23466123|PMID:24033266|PMID:24102521|PMID:24684036|PMID:24756041|PMID:24836714|PMID:24857004|PMID:24926462|PMID:25042154|PMID:25525159|PMID:25741868|PMID:25839938|PMID:2589938|PMID:26040324|PMID:26051471|PMID:26377240|PMID:26402641|PMID:26467025|PMID:26543054|PMID:26894575|PMID:27840894|PMID:28492532|PMID:28506344|PMID:28981921|PMID:29393334|PMID:29460029|PMID:29505567|PMID:29858904|PMID:30298485|PMID:30298486|PMID:30607568|PMID:30682568|PMID:30920082|PMID:31102713|PMID:31910300|PMID:32257293|PMID:32329911|PMID:33639975|PMID:33666701|PMID:3394683|PMID:34006472|PMID:34434907|PMID:34633109|PMID:34806794|PMID:35738466|PMID:36530187|PMID:36672821|PMID:7550339|PMID:9097956|PMID:9106524|PMID:9199930|PMID:9536098|PMID:9768646|PMID:9768674 11933563 PHEX phosphate regulating endopeptidase X-linked gene DOID:0050948 autosomal dominant hypophosphatemic rickets ISO RGD:733664 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets PMID:10439971|PMID:14564066|PMID:14564077|PMID:16055933|PMID:19219621|PMID:21902834|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32329911|PMID:9199930|PMID:9768674 11933563 PHEX phosphate regulating endopeptidase X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11933563 PHEX phosphate regulating endopeptidase X-linked gene DOID:10003 sensorineural hearing loss ISO RGD:11097 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:15029877|REF_RGD_ID:11556244 11933563 PHEX phosphate regulating endopeptidase X-linked gene DOID:1074 kidney failure ISO RGD:3323 D RGD:9068941 20200609 RGD mRNA:increased expression:parathroid gland,tibia: PMID:14693675|REF_RGD_ID:11556273 11933563 PHEX phosphate regulating endopeptidase X-linked gene DOID:10754 otitis media ISO RGD:11097 D RGD:9068941 20220825 MouseDO OMIM:166760 11933563 PHEX phosphate regulating endopeptidase X-linked gene DOID:12679 nephrocalcinosis ISO RGD:733664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9430241 11933563 PHEX phosphate regulating endopeptidase X-linked gene DOID:12849 autistic disorder ISO RGD:733664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11933563 PHEX phosphate regulating endopeptidase X-linked gene DOID:630 genetic disease ISO RGD:733664 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10737991|PMID:25741868|PMID:28492532 11933563 PHEX phosphate regulating endopeptidase X-linked gene DOID:9000099 Experimental Colitis ISO RGD:11097 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone: PMID:16890604|REF_RGD_ID:11556253 11933563 PHEX phosphate regulating endopeptidase X-linked gene DOID:9001197 Unilateral Deafness with Delayed Endolymphatic Hydrops ISO RGD:11097 D RGD:9068941 20200609 RGD DNA:mutation:cds: PMID:18289812|REF_RGD_ID:11556245 11933563 PHEX phosphate regulating endopeptidase X-linked gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:733664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets | ClinVar Annotator: match by term: Hypophosphatemic rickets PMID:10737991|PMID:11004247|PMID:11468271|PMID:12414858|PMID:12727977|PMID:16199547|PMID:18162710|PMID:18625346|PMID:19219621|PMID:22261628|PMID:22695891|PMID:23466123|PMID:24684036|PMID:24836714|PMID:25031893|PMID:25741868|PMID:26040324|PMID:26467025|PMID:27840894|PMID:28492532|PMID:29460029|PMID:29505567|PMID:29707405|PMID:29858904|PMID:30298486|PMID:30607568|PMID:30682568|PMID:35738466|PMID:9097956|PMID:9106524|PMID:9199930|PMID:9768674 11933563 PHEX phosphate regulating endopeptidase X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11933563 PHEX phosphate regulating endopeptidase X-linked gene DOID:9007505 Familial Hypophosphatemic Rickets ISO RGD:733664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets PMID:11468271|PMID:12727977|PMID:18625346|PMID:24684036|PMID:25741868|PMID:28492532|PMID:29858904|PMID:9097956|PMID:9199930 11933563 PHEX phosphate regulating endopeptidase X-linked gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1962291 11933592 B4GALNT3 beta-1,4-N-acetyl-galactosaminyltransferase 3 gene DOID:0080600 COVID-19 ISO RGD:1603523 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11933592 B4GALNT3 beta-1,4-N-acetyl-galactosaminyltransferase 3 gene DOID:630 genetic disease ISO RGD:1603523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933592 B4GALNT3 beta-1,4-N-acetyl-galactosaminyltransferase 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1603523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11933622 SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1320089 D RGD:9068941 20220825 MouseDO 11933622 SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 gene DOID:0080725 BASAN syndrome ISO RGD:1320088 D RGD:7240710 20190315 OMIM 11933622 SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 gene DOID:0080725 BASAN syndrome ISO RGD:1320088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Basan syndrome PMID:20619487|PMID:21820097|PMID:24664640|PMID:25741868|PMID:26932190 11933622 SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 gene DOID:0111357 adermatoglyphia ISO RGD:1320088 D RGD:7240710 20180130 OMIM 11933622 SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 gene DOID:0111357 adermatoglyphia ISO RGD:1320088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adermatoglyphia PMID:10631162|PMID:20619487|PMID:21820097|PMID:24909267|PMID:25741868|PMID:26932190|PMID:29409814 11933622 SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 gene DOID:630 genetic disease ISO RGD:1320088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933622 SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 gene DOID:9001225 Sclerotylosis ISO RGD:1320088 D RGD:7240710 20190424 OMIM 11933622 SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 gene DOID:9001225 Sclerotylosis ISO RGD:1320088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoderma with scleroatrophy of the extremities PMID:10631162|PMID:24909267|PMID:25741868|PMID:29409814|PMID:4298032|PMID:8731679 11933622 SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320088 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11933622 SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:30057029 11933656 FFAR4 free fatty acid receptor 4 gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:1317919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:24206907|PMID:28492532 11933656 FFAR4 free fatty acid receptor 4 gene DOID:630 genetic disease ISO RGD:1317919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933656 FFAR4 free fatty acid receptor 4 gene DOID:9970 obesity ISO RGD:1317919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Body mass index quantitative trait locus 10 PMID:22343897|PMID:27068006 11933656 FFAR4 free fatty acid receptor 4 gene DOID:9970 obesity susceptibility ISO RGD:1317919 D RGD:7240710 20190502 OMIM 11933665 PHIP pleckstrin homology domain interacting protein gene DOID:0050888 syndromic intellectual disability ISO RGD:1345138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:27900362|PMID:28708303 11933665 PHIP pleckstrin homology domain interacting protein gene DOID:0060041 autism spectrum disorder ISO RGD:1345138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11933665 PHIP pleckstrin homology domain interacting protein gene DOID:1059 intellectual disability ISO RGD:1345138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:27479843|PMID:28263302|PMID:28492532|PMID:29209020 11933665 PHIP pleckstrin homology domain interacting protein gene DOID:12849 autistic disorder ISO RGD:1345138 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autistic disorder PMID:25741868|PMID:28492532 11933665 PHIP pleckstrin homology domain interacting protein gene DOID:12894 Sjogren's syndrome ISO RGD:1345138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 11933665 PHIP pleckstrin homology domain interacting protein gene DOID:630 genetic disease ISO RGD:1345138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27479843|PMID:28263302|PMID:28492532|PMID:29209020|PMID:33004838 11933665 PHIP pleckstrin homology domain interacting protein gene DOID:9000949 DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES ISO RGD:1345138 D RGD:7240710 20190315 OMIM 11933665 PHIP pleckstrin homology domain interacting protein gene DOID:9000949 DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES ISO RGD:1345138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM | ClinVar Annotator: match by term: PHIP-Related Disorder PMID:16199547|PMID:23033978|PMID:25741868|PMID:27479843|PMID:27900362|PMID:28263302|PMID:28492532|PMID:29209020 11933665 PHIP pleckstrin homology domain interacting protein gene DOID:9002789 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE ISO RGD:1345138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE PMID:25741868|PMID:28492532 11933665 PHIP pleckstrin homology domain interacting protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345138 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11933665 PHIP pleckstrin homology domain interacting protein gene DOID:9008582 Developmental Disease ISO RGD:1345138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11933665 PHIP pleckstrin homology domain interacting protein gene DOID:9269 maple syrup urine disease ISO RGD:1345138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:16786533|PMID:22593002|PMID:24571530|PMID:28492532 11933706 C14H14orf28 chromosome 14 C14orf28 homolog gene DOID:13636 Fanconi anemia ISO RGD:1316923 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532|PMID:29895858|PMID:30075111 11933706 C14H14orf28 chromosome 14 C14orf28 homolog gene DOID:630 genetic disease ISO RGD:1316923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933706 C14H14orf28 chromosome 14 C14orf28 homolog gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1316923 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11933715 RNF175 ring finger protein 175 gene DOID:630 genetic disease ISO RGD:1348737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933737 OTUD3 OTU deubiquitinase 3 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1604042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11933737 OTUD3 OTU deubiquitinase 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604042 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11933737 OTUD3 OTU deubiquitinase 3 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1604042 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11933737 OTUD3 OTU deubiquitinase 3 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1604042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11933737 OTUD3 OTU deubiquitinase 3 gene DOID:630 genetic disease ISO RGD:1604042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933737 OTUD3 OTU deubiquitinase 3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1604042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11933758 PPP1CA protein phosphatase 1 catalytic subunit alpha gene DOID:1059 intellectual disability ISO RGD:732541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11933758 PPP1CA protein phosphatase 1 catalytic subunit alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:11132 D RGD:9068941 20200609 RGD PMID:12024026|REF_RGD_ID:737728 11933758 PPP1CA protein phosphatase 1 catalytic subunit alpha gene DOID:6000 congestive heart failure ISO RGD:11132 D RGD:9068941 20200609 RGD PMID:12024026|REF_RGD_ID:737728 11933758 PPP1CA protein phosphatase 1 catalytic subunit alpha gene DOID:630 genetic disease ISO RGD:732541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933758 PPP1CA protein phosphatase 1 catalytic subunit alpha gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:732541 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11933758 PPP1CA protein phosphatase 1 catalytic subunit alpha gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:732541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11933769 LOC100993256 interleukin 36 gamma gene DOID:289 endometriosis ISO RGD:1351778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometriosis 11933769 LOC100993256 interleukin 36 gamma gene DOID:630 genetic disease ISO RGD:1351778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933779 UST uronyl 2-sulfotransferase gene DOID:0060224 atrial fibrillation ISO RGD:1312363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11933779 UST uronyl 2-sulfotransferase gene DOID:289 endometriosis ISO RGD:1312363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11933779 UST uronyl 2-sulfotransferase gene DOID:630 genetic disease ISO RGD:1312363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933821 KLHDC8B kelch domain containing 8B gene DOID:0060852 Pierson syndrome ISO RGD:1602285 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 11933821 KLHDC8B kelch domain containing 8B gene DOID:630 genetic disease ISO RGD:1602285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933821 KLHDC8B kelch domain containing 8B gene DOID:8567 Hodgkin's lymphoma ISO RGD:1602285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Classic Hodgkin lymphoma PMID:19706467 11933821 KLHDC8B kelch domain containing 8B gene DOID:8567 Hodgkin's lymphoma susceptibility ISO RGD:1602285 D RGD:7240710 20190502 OMIM 11933821 KLHDC8B kelch domain containing 8B gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1602285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11933839 SPI1 Spi-1 proto-oncogene gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1344411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11933839 SPI1 Spi-1 proto-oncogene gene DOID:0081142 agammaglobulinemia 10 ISO RGD:1344411 D RGD:7240710 20220202 OMIM 11933839 SPI1 Spi-1 proto-oncogene gene DOID:0081142 agammaglobulinemia 10 ISO RGD:1344411 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO SPI1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 10, autosomal dominant PMID:25741868|PMID:33951726 11933839 SPI1 Spi-1 proto-oncogene gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1344411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 11933839 SPI1 Spi-1 proto-oncogene gene DOID:1059 intellectual disability ISO RGD:1344411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11933839 SPI1 Spi-1 proto-oncogene gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1344411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 11933839 SPI1 Spi-1 proto-oncogene gene DOID:1574 alcohol use disorder ISO RGD:1359607 D RGD:9068941 20200609 RGD protein:decreased expression:alveolar macrophage PMID:16272341|REF_RGD_ID:9586723 11933839 SPI1 Spi-1 proto-oncogene gene DOID:1574 alcohol use disorder treatment ISO RGD:1359607 D RGD:9068941 20200609 RGD PMID:21447000|REF_RGD_ID:9586725 11933839 SPI1 Spi-1 proto-oncogene gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1344411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28671687 11933839 SPI1 Spi-1 proto-oncogene gene DOID:630 genetic disease ISO RGD:1344411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933839 SPI1 Spi-1 proto-oncogene gene DOID:8692 myeloid leukemia ISO RGD:1344411 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17361223 11933839 SPI1 Spi-1 proto-oncogene gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1359607 D RGD:9068941 20200609 RGD protein:increased expression:CA1 field of hippocampus PMID:10713349|REF_RGD_ID:9586724 11933839 SPI1 Spi-1 proto-oncogene gene DOID:9004283 Transplant Rejection treatment ISO RGD:1359607 D RGD:9068941 20200609 RGD PMID:24282365|REF_RGD_ID:9586451 11933839 SPI1 Spi-1 proto-oncogene gene DOID:9119 acute myeloid leukemia ISO RGD:1344411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26237430 11933839 SPI1 Spi-1 proto-oncogene gene DOID:9119 acute myeloid leukemia ISO RGD:1553307 D RGD:9068941 20220825 MouseDO OMIM:601626 11933850 PTPN4 protein tyrosine phosphatase non-receptor type 4 gene DOID:1059 intellectual disability ISO RGD:1316480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11933850 PTPN4 protein tyrosine phosphatase non-receptor type 4 gene DOID:12849 autistic disorder ISO RGD:1316480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 11933850 PTPN4 protein tyrosine phosphatase non-receptor type 4 gene DOID:630 genetic disease ISO RGD:1316480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933850 PTPN4 protein tyrosine phosphatase non-receptor type 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316480 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:34527963 11933880 PRKAB1 protein kinase AMP-activated non-catalytic subunit beta 1 gene DOID:2983 anuria treatment ISO RGD:735403 D RGD:9068941 20201001 RGD PMID:27782167|REF_RGD_ID:39128183 11933880 PRKAB1 protein kinase AMP-activated non-catalytic subunit beta 1 gene DOID:630 genetic disease ISO RGD:735402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933880 PRKAB1 protein kinase AMP-activated non-catalytic subunit beta 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:735402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11933880 PRKAB1 protein kinase AMP-activated non-catalytic subunit beta 1 gene DOID:9000918 Disease Progression ISO RGD:735402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11933895 IER5 immediate early response 5 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:737469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 11933895 IER5 immediate early response 5 gene DOID:1540 parathyroid carcinoma ISO RGD:737469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11933895 IER5 immediate early response 5 gene DOID:630 genetic disease ISO RGD:737469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933895 IER5 immediate early response 5 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:737469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11933895 IER5 immediate early response 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11933906 CFAP44 cilia and flagella associated protein 44 gene DOID:0070166 spermatogenic failure 20 ISO RGD:1343890 D RGD:7240710 20190315 OMIM 11933906 CFAP44 cilia and flagella associated protein 44 gene DOID:0070166 spermatogenic failure 20 ISO RGD:1343890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 20 PMID:25741868|PMID:28552195|PMID:29277146|PMID:29449551 11933906 CFAP44 cilia and flagella associated protein 44 gene DOID:630 genetic disease ISO RGD:1343890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11933946 TRAM2 translocation associated membrane protein 2 gene DOID:630 genetic disease ISO RGD:1345669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933967 HTR1D 5-hydroxytryptamine receptor 1D gene DOID:10933 obsessive-compulsive disorder ISO RGD:736440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10621951 11933967 HTR1D 5-hydroxytryptamine receptor 1D gene DOID:12849 autistic disorder ISO RGD:736440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19038234 11933967 HTR1D 5-hydroxytryptamine receptor 1D gene DOID:630 genetic disease ISO RGD:736440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933967 HTR1D 5-hydroxytryptamine receptor 1D gene DOID:9006024 Hypotension ISO RGD:736440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9109356 11933967 HTR1D 5-hydroxytryptamine receptor 1D gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:736440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11933972 DCLK1 doublecortin like kinase 1 gene DOID:630 genetic disease ISO RGD:68655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11933972 DCLK1 doublecortin like kinase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:68655 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23202126 11934003 FDPS farnesyl diphosphate synthase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:69022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11934003 FDPS farnesyl diphosphate synthase gene DOID:0111940 immunodeficiency 42 ISO RGD:69022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11934003 FDPS farnesyl diphosphate synthase gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:69022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11934003 FDPS farnesyl diphosphate synthase gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:69022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11934003 FDPS farnesyl diphosphate synthase gene DOID:1540 parathyroid carcinoma ISO RGD:69022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11934003 FDPS farnesyl diphosphate synthase gene DOID:5812 MHC class II deficiency ISO RGD:69022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11934003 FDPS farnesyl diphosphate synthase gene DOID:630 genetic disease ISO RGD:69022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934003 FDPS farnesyl diphosphate synthase gene DOID:9003076 Porokeratosis 9, Multiple Types ISO RGD:69022 D RGD:7240710 20180130 OMIM 11934003 FDPS farnesyl diphosphate synthase gene DOID:9003076 Porokeratosis 9, Multiple Types ISO RGD:69022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Porokeratosis 9, multiple types PMID:26202976 11934003 FDPS farnesyl diphosphate synthase gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:69022 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31774873 11934003 FDPS farnesyl diphosphate synthase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:69022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11934043 LOC100984073 MAP3K7 C-terminal-like protein gene DOID:630 genetic disease ISO RGD:1347445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934078 TACC1 transforming acidic coiled-coil containing protein 1 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1342908 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 11934078 TACC1 transforming acidic coiled-coil containing protein 1 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1342908 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 11934078 TACC1 transforming acidic coiled-coil containing protein 1 gene DOID:1826 epilepsy ISO RGD:1342908 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11934078 TACC1 transforming acidic coiled-coil containing protein 1 gene DOID:607 paraplegia ISO RGD:1342908 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11934078 TACC1 transforming acidic coiled-coil containing protein 1 gene DOID:630 genetic disease ISO RGD:1342908 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11934112 SLC12A1 solute carrier family 12 member 1 gene DOID:0050450 Gitelman syndrome ISO RGD:731943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia PMID:8640224 11934112 SLC12A1 solute carrier family 12 member 1 gene DOID:0110142 Bartter disease type 1 ISO RGD:731943 D RGD:7240710 20180130 OMIM 11934112 SLC12A1 solute carrier family 12 member 1 gene DOID:0110142 Bartter disease type 1 ISO RGD:731943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bartter disease type 1 PMID:12761241|PMID:15167446|PMID:17576681|PMID:18391953|PMID:19096086|PMID:19513753|PMID:19602640|PMID:20219833|PMID:21157372|PMID:21209010|PMID:23897314|PMID:24033266|PMID:24253496|PMID:24550759|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26963954|PMID:28000888|PMID:28095294|PMID:28492532|PMID:28893421|PMID:29398133|PMID:29942493|PMID:30076350|PMID:30113482|PMID:31625567|PMID:32997713|PMID:33532864|PMID:33973684|PMID:36092934|PMID:8640224|PMID:9355073|PMID:9536098|PMID:9585600 11934112 SLC12A1 solute carrier family 12 member 1 gene DOID:12679 nephrocalcinosis ISO RGD:731943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:17998760|PMID:18391953|PMID:19096086|PMID:28492532|PMID:28893421|PMID:8640224|PMID:9585600 11934112 SLC12A1 solute carrier family 12 member 1 gene DOID:14323 Marfan syndrome ISO RGD:731943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:21063442|PMID:25741868|PMID:26787436|PMID:28492532 11934112 SLC12A1 solute carrier family 12 member 1 gene DOID:2717 Bloom syndrome ISO RGD:731943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11934112 SLC12A1 solute carrier family 12 member 1 gene DOID:445 Bartter disease ISO RGD:731943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bartter syndrome PMID:28492532|PMID:29398133|PMID:35358470|PMID:36092934|PMID:9585600 11934112 SLC12A1 solute carrier family 12 member 1 gene DOID:630 genetic disease ISO RGD:731943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 11934112 SLC12A1 solute carrier family 12 member 1 gene DOID:9001276 Failure to Thrive ISO RGD:731943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:28492532 11934112 SLC12A1 solute carrier family 12 member 1 gene DOID:9256 colorectal cancer ISO RGD:731943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11934155 FEV FEV transcription factor, ETS family member gene DOID:0060041 autism spectrum disorder ISO RGD:1351543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31209396 11934155 FEV FEV transcription factor, ETS family member gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1351543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11934155 FEV FEV transcription factor, ETS family member gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1351543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11934155 FEV FEV transcription factor, ETS family member gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1351543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11934155 FEV FEV transcription factor, ETS family member gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1351543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11934155 FEV FEV transcription factor, ETS family member gene DOID:630 genetic disease ISO RGD:1351543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934155 FEV FEV transcription factor, ETS family member gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11934155 FEV FEV transcription factor, ETS family member gene DOID:9007102 Myocardial Ischemia ISO RGD:1351543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11934203 CARTPT CART prepropeptide gene DOID:2030 anxiety disorder ISO RGD:1605714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12600694 11934203 CARTPT CART prepropeptide gene DOID:630 genetic disease ISO RGD:1605714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934203 CARTPT CART prepropeptide gene DOID:7998 hyperthyroidism ISO RGD:1605714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12395121 11934203 CARTPT CART prepropeptide gene DOID:9002211 Hyperalgesia ISO RGD:1605714 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21167239 11934203 CARTPT CART prepropeptide gene DOID:9004354 Alcohol-Related Disorders ISO RGD:1605714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22823101 11934203 CARTPT CART prepropeptide gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11934203 CARTPT CART prepropeptide gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1605714 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20886038 11934203 CARTPT CART prepropeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:2272 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic B cell PMID:16443761|REF_RGD_ID:2313632 11934203 CARTPT CART prepropeptide gene DOID:9970 obesity ISO RGD:1605714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:11522684|PMID:15326462|PMID:25741868 11934203 CARTPT CART prepropeptide gene DOID:9970 obesity no_association ISO RGD:1605714 D RGD:9068941 20200609 RGD DNA:deletion, substitution: :1457delA, 1475A>G (human) PMID:10574510|REF_RGD_ID:2313634 11934203 CARTPT CART prepropeptide gene DOID:9970 obesity no_association ISO RGD:1605714 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr (human) PMID:10805512|REF_RGD_ID:2313633 11934203 CARTPT CART prepropeptide gene DOID:9970 obesity susceptibility ISO RGD:1605714 D RGD:7240710 20230505 OMIM 11934214 GALR3 galanin receptor 3 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:735333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11934214 GALR3 galanin receptor 3 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:735333 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11934214 GALR3 galanin receptor 3 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:735333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11934214 GALR3 galanin receptor 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11934214 GALR3 galanin receptor 3 gene DOID:1470 major depressive disorder ISO RGD:735333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27940914 11934214 GALR3 galanin receptor 3 gene DOID:630 genetic disease ISO RGD:735333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934227 DDX6 DEAD-box helicase 6 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1349712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11934227 DDX6 DEAD-box helicase 6 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1349712 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11934227 DDX6 DEAD-box helicase 6 gene DOID:0080690 RASopathy ISO RGD:1349712 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11934227 DDX6 DEAD-box helicase 6 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1349712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 11934227 DDX6 DEAD-box helicase 6 gene DOID:0110651 long QT syndrome 10 ISO RGD:1349712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11934227 DDX6 DEAD-box helicase 6 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1349712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11934227 DDX6 DEAD-box helicase 6 gene DOID:0111971 immunodeficiency 18 ISO RGD:1349712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11934227 DDX6 DEAD-box helicase 6 gene DOID:0111972 immunodeficiency 19 ISO RGD:1349712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11934227 DDX6 DEAD-box helicase 6 gene DOID:0111973 immunodeficiency 17 ISO RGD:1349712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11934227 DDX6 DEAD-box helicase 6 gene DOID:3307 teratoma ISO RGD:1349712 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 11934227 DDX6 DEAD-box helicase 6 gene DOID:630 genetic disease ISO RGD:1349712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934227 DDX6 DEAD-box helicase 6 gene DOID:7148 rheumatoid arthritis ISO RGD:1349712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 11934227 DDX6 DEAD-box helicase 6 gene DOID:9001091 INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES ISO RGD:1349712 D RGD:7240710 20200115 OMIM 11934227 DDX6 DEAD-box helicase 6 gene DOID:9001091 INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES ISO RGD:1349712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with impaired language and dysmorphic facies PMID:25741868|PMID:31422817 11934227 DDX6 DEAD-box helicase 6 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1349712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11934227 DDX6 DEAD-box helicase 6 gene DOID:9007661 Dwarfism ISO RGD:1349712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:10459 common cold ISO RGD:736460 D RGD:9068941 20200609 RGD protein:increased expression:bronchus PMID:11865407|REF_RGD_ID:4890421 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:1612 breast cancer ISO RGD:736460 D RGD:9068941 20200609 RGD DNA:polymorphism:g.-4800A>G (human) PMID:18843019|REF_RGD_ID:2313902 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:1936 atherosclerosis ISO RGD:736460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16698924 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:1969 cerebral palsy ISO RGD:736460 D RGD:9068941 20200609 RGD DNA:SNP(human) PMID:18977990|REF_RGD_ID:2313892 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:2349 arteriosclerosis ISO RGD:736460 D RGD:9068941 20200609 RGD mRNA:increased expression:atherosclerotic lesions (human) PMID:18258817|REF_RGD_ID:2313905 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:2349 arteriosclerosis ISO RGD:736461 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta, adipose tissue (mouse) PMID:17379835|REF_RGD_ID:2313913 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma ISO RGD:736460 D RGD:9068941 20200609 RGD DNA:repeat:promoter:-169(A)21 (human) PMID:10527888|REF_RGD_ID:5147466 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma ISO RGD:736460 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, leukocyte PMID:9642160|REF_RGD_ID:5147467 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma ISO RGD:736461 D RGD:9068941 20200609 RGD PMID:8879219|REF_RGD_ID:5147462 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma ISO RGD:736461 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11035107|REF_RGD_ID:4890422 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma no_association ISO RGD:736460 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter (human) PMID:20128419|REF_RGD_ID:4890407 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma no_association ISO RGD:736460 D RGD:9068941 20200609 RGD DNA:polymorphisms:intron:IVS2+12C>A, IVS2+105T>C (human) PMID:15784112|REF_RGD_ID:5147464 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma no_association ISO RGD:736460 D RGD:9068941 20200609 RGD DNA:substitution, repeat:promoter:-336G>A, -169(A)19-23 (human) PMID:12911785|REF_RGD_ID:5147465 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma susceptibility ISO RGD:736460 D RGD:9068941 20200609 RGD DNA:SNP: :rs10507391 (human) PMID:20067482|REF_RGD_ID:4890405 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma susceptibility ISO RGD:736460 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:18547289|REF_RGD_ID:4890409 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:2921 glomerulonephritis onset ISO RGD:2097 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus, endothelial cell, cytoplasm (rat) PMID:14733414|REF_RGD_ID:2313931 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:3393 coronary artery disease ISO RGD:736460 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:19596330|REF_RGD_ID:2313883 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:3454 brain infarction ISO RGD:736460 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X; DNA:polymorphism:g.162A>C rs4769055 (human) PMID:18506375|REF_RGD_ID:2311309 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:3526 cerebral infarction susceptibility ISO RGD:736460 D RGD:7240710 20230505 OMIM 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:3602 toxic encephalopathy ISO RGD:736460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:409 liver disease ISO RGD:736460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:557 kidney disease ISO RGD:736460 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:g.8733T>C (rs3803278) (human) PMID:19288030|REF_RGD_ID:2313888 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:576 proteinuria ISO RGD:736460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12649539 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:5844 myocardial infarction ISO RGD:736460 D RGD:9068941 20200609 RGD PMID:14770184|REF_RGD_ID:1578317 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:5844 myocardial infarction no_association ISO RGD:736460 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:19046748|REF_RGD_ID:2313891 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:630 genetic disease ISO RGD:736460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:6432 pulmonary hypertension ISO RGD:2097 D RGD:9068941 20200609 RGD PMID:8647941|REF_RGD_ID:734558 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:6432 pulmonary hypertension ISO RGD:736460 D RGD:9068941 20200609 RGD protein:increased expression:artery PMID:9445303|REF_RGD_ID:1626154 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:769 neuroblastoma ISO RGD:736460 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:neuroblastoma (human) PMID:18591367|REF_RGD_ID:2313903 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:736460 D RGD:9068941 20200609 RGD protein:increased expression:nasal turbinate PMID:19364335|REF_RGD_ID:5147461 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2097 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland tumor (rat) PMID:18959458|REF_RGD_ID:2313895 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:9005372 Inflammation ISO RGD:2097 D RGD:9068941 20200609 RGD PMID:19749079|REF_RGD_ID:5147469 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:9005372 Inflammation ISO RGD:736461 D RGD:9068941 20200609 RGD PMID:19749079|REF_RGD_ID:5147469 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:9007096 Stroke ISO RGD:2097 D RGD:9068941 20200609 RGD mRNA:increased expression:leukocyte (rat) PMID:17922411|REF_RGD_ID:2313907 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:9007096 Stroke ISO RGD:736460 D RGD:9068941 20200609 RGD DNA:polymorphism: :2354T>A (human) PMID:19373490|REF_RGD_ID:2313886 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:9007480 Hyperoxia ISO RGD:2097 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:12490039|REF_RGD_ID:4890420 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:9970 obesity ISO RGD:736460 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:19596146|REF_RGD_ID:2313884 11934252 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:9970 obesity ISO RGD:736461 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue (mouse) PMID:17379835|REF_RGD_ID:2313913 11934262 NDUFB4 NADH:ubiquinone oxidoreductase subunit B4 gene DOID:630 genetic disease ISO RGD:1316046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934262 NDUFB4 NADH:ubiquinone oxidoreductase subunit B4 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1316046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 11934270 PPID peptidylprolyl isomerase D gene DOID:11372 megacolon ISO RGD:1342741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11934270 PPID peptidylprolyl isomerase D gene DOID:2316 brain ischemia ISO RGD:1553037 D RGD:9068941 20200609 RGD PMID:16103352|REF_RGD_ID:1580699 11934270 PPID peptidylprolyl isomerase D gene DOID:630 genetic disease ISO RGD:1342741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934284 PCP4L1 Purkinje cell protein 4 like 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1602138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11934284 PCP4L1 Purkinje cell protein 4 like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1602138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11934284 PCP4L1 Purkinje cell protein 4 like 1 gene DOID:630 genetic disease ISO RGD:1602138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934284 PCP4L1 Purkinje cell protein 4 like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11934291 C19H19orf38 chromosome 19 C19orf38 homolog gene DOID:0050990 episodic ataxia type 2 ISO RGD:2302125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11934291 C19H19orf38 chromosome 19 C19orf38 homolog gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:2302125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11934291 C19H19orf38 chromosome 19 C19orf38 homolog gene DOID:0111254 glutaric acidemia I ISO RGD:2302125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11934291 C19H19orf38 chromosome 19 C19orf38 homolog gene DOID:13810 familial hypercholesterolemia ISO RGD:2302125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:28492532 11934291 C19H19orf38 chromosome 19 C19orf38 homolog gene DOID:3413 alpha-mannosidosis ISO RGD:2302125 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:0050700 cardiomyopathy onset ISO RGD:1551416 D RGD:9068941 20200609 RGD PMID:23316298|REF_RGD_ID:7800701 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:0060260 ptosis ISO RGD:1344166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ptosis PMID:19303950|PMID:20157015|PMID:22857269|PMID:25741868|PMID:26467025|PMID:27890673|PMID:28492532 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:0080336 mitochondrial DNA depletion syndrome 14 ISO RGD:1344166 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) PMID:11017079|PMID:11440988|PMID:11440989|PMID:11810270|PMID:12036970|PMID:14961560|PMID:15505825|PMID:16513463|PMID:18222991|PMID:20157015|PMID:20417570|PMID:20659957|PMID:20801516|PMID:20952381|PMID:21636302|PMID:21646330|PMID:22042570|PMID:22857269|PMID:23250881|PMID:23401657|PMID:24907432|PMID:25012220|PMID:25641387|PMID:25741868|PMID:26206283|PMID:26385429|PMID:26467025|PMID:28492532|PMID:28812649|PMID:33546218|PMID:9490303|PMID:9917792 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:0080336 mitochondrial DNA depletion syndrome 14 susceptibility ISO RGD:1344166 D RGD:7240710 20230517 OMIM 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:0110380 retinitis pigmentosa 62 ISO RGD:1344166 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 62 PMID:25741868 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1344166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:19303950|PMID:20157015|PMID:22857269|PMID:25741868|PMID:26467025|PMID:27890673|PMID:28492532 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:0111340 dominant optic atrophy plus syndrome ISO RGD:1344166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY | ClinVar Annotator: match by term: Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy PMID:11017079|PMID:11017080|PMID:11440988|PMID:11440989|PMID:11810270|PMID:12036970|PMID:12488262|PMID:12566046|PMID:14644237|PMID:14961560|PMID:15505825|PMID:15531309|PMID:16158427|PMID:16240368|PMID:16513463|PMID:17167772|PMID:17188070|PMID:17722006|PMID:17724190|PMID:18065439|PMID:18158317|PMID:18195150|PMID:18204809|PMID:18222991|PMID:18496845|PMID:19029523|PMID:19303950|PMID:19319978|PMID:19900585|PMID:20157015|PMID:20185555|PMID:20301426|PMID:20417570|PMID:20659957|PMID:20801516|PMID:20952381|PMID:21036400|PMID:21112924|PMID:21636302|PMID:21646330|PMID:21745197|PMID:22042570|PMID:22433900|PMID:22779427|PMID:22857269|PMID:23250881|PMID:23401657|PMID:23916084|PMID:24907432|PMID:24970096|PMID:25012220|PMID:25146915|PMID:25146916|PMID:25564500|PMID:25641387|PMID:25741868|PMID:26206283|PMID:26385429|PMID:26467025|PMID:26867657|PMID:27290639|PMID:27858935|PMID:27890673|PMID:28378518|PMID:28492532|PMID:28494813|PMID:28812649|PMID:28848318|PMID:28926202|PMID:28981474|PMID:29389947|PMID:30293569|PMID:30972688|PMID:31609081|PMID:31673222|PMID:31782039|PMID:32040484|PMID:32202296|PMID:32371413|PMID:32379273|PMID:33546218|PMID:33841295|PMID:33884488|PMID:34008892|PMID:34242285|PMID:34426522|PMID:34732400|PMID:4058877|PMID:6493699|PMID:9490303|PMID:9917792 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:0111340 dominant optic atrophy plus syndrome susceptibility ISO RGD:1344166 D RGD:7240710 20230517 OMIM 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:0111441 optic atrophy 1 ISO RGD:1344166 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kjer-type optic atrophy | ClinVar Annotator: match by term: Optic Atrophy Type 1 | ClinVar Annotator: match by term: Optic Atrophy, Dominant | ClinVar Annotator: match by term: Optic atrophy, juvenile PMID:11017079|PMID:11017080|PMID:11440988|PMID:11440989|PMID:11735024|PMID:11810270|PMID:12036970|PMID:12488262|PMID:12566046|PMID:12842213|PMID:14644237|PMID:14961560|PMID:15505825|PMID:15531309|PMID:15948788|PMID:16158427|PMID:16199547|PMID:16240368|PMID:16513463|PMID:16617242|PMID:16785854|PMID:17167772|PMID:17188070|PMID:17251483|PMID:17576681|PMID:17722006|PMID:17724190|PMID:18065439|PMID:18158317|PMID:18222991|PMID:18360822|PMID:18496845|PMID:19029523|PMID:19319978|PMID:19581274|PMID:19900585|PMID:20157015|PMID:20185555|PMID:20301426|PMID:20417568|PMID:20417570|PMID:20659957|PMID:20801516|PMID:20952381|PMID:21036400|PMID:21203403|PMID:21538838|PMID:21636302|PMID:21646330|PMID:21745197|PMID:21828197|PMID:22042570|PMID:22433900|PMID:22779427|PMID:22857269|PMID:23250881|PMID:23384603|PMID:23387428|PMID:23401657|PMID:23916084|PMID:24907432|PMID:24970096|PMID:25012220|PMID:25137924|PMID:25146915|PMID:25146916|PMID:25205859|PMID:25326637|PMID:25564500|PMID:25641387|PMID:25699009|PMID:25741868|PMID:25794858|PMID:26206283|PMID:26385429|PMID:26467025|PMID:26624494|PMID:26867657|PMID:27290639|PMID:27656661|PMID:27858935|PMID:28005958|PMID:28378518|PMID:28492532|PMID:28494813|PMID:28812649|PMID:28926202|PMID:29389947|PMID:30293569|PMID:30972688|PMID:31500643|PMID:31589614|PMID:31609081|PMID:31673222|PMID:31782039|PMID:32025183|PMID:32040484|PMID:32202296|PMID:32371413|PMID:32379273|PMID:32855858|PMID:33084218|PMID:33546218|PMID:33841295|PMID:33884488|PMID:34008892|PMID:34242285|PMID:34426522|PMID:34732400|PMID:4058877|PMID:6493699|PMID:9490303|PMID:9536098|PMID:9917792 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:0111441 optic atrophy 1 susceptibility ISO RGD:1344166 D RGD:7240710 20230517 OMIM 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:0111580 Behr syndrome ISO RGD:1344166 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss | ClinVar Annotator: match by term: Optic atrophy, infantile hereditary, Behr complicated form of PMID:11017079|PMID:11440988|PMID:11440989|PMID:11810270|PMID:12036970|PMID:14961560|PMID:15505825|PMID:16513463|PMID:17576681|PMID:17722006|PMID:18222991|PMID:18496845|PMID:19303950|PMID:19319978|PMID:19900585|PMID:20157015|PMID:20417568|PMID:20417570|PMID:20659957|PMID:20801516|PMID:20952381|PMID:21036400|PMID:21636302|PMID:21646330|PMID:22042570|PMID:22857269|PMID:23250881|PMID:23401657|PMID:24907432|PMID:24970096|PMID:25012220|PMID:25146915|PMID:25146916|PMID:25641387|PMID:25741868|PMID:25794858|PMID:26206283|PMID:26385429|PMID:26467025|PMID:27290639|PMID:27890673|PMID:28378518|PMID:28492532|PMID:28494813|PMID:28812649|PMID:30293569|PMID:30972688|PMID:31782039|PMID:32040484|PMID:32202296|PMID:32371413|PMID:33546218|PMID:33841295|PMID:34242285|PMID:34426522|PMID:34732400|PMID:9490303|PMID:9536098|PMID:9917792 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:0111580 Behr syndrome susceptibility ISO RGD:1344166 D RGD:7240710 20230517 OMIM 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:10652 Alzheimer's disease ISO RGD:1344166 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:19605646|REF_RGD_ID:7800727 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:1070 primary open angle glaucoma ISO RGD:1344166 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood, leukocyte PMID:21552501|REF_RGD_ID:7800718 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:1070 primary open angle glaucoma no_association ISO RGD:1344166 D RGD:9068941 20200609 RGD DNA:SNPs: :rs166850, rs10451941 (human) PMID:18079692|REF_RGD_ID:7800721 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:1070 primary open angle glaucoma no_association ISO RGD:1344166 D RGD:9068941 20200609 RGD DNA:SNPs:exons, introns:multiple PMID:16785854|REF_RGD_ID:7800713 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:1070 primary open angle glaucoma no_association ISO RGD:1344166 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:IVS8+4C>T (human) PMID:17188046|REF_RGD_ID:7800685 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:10763 hypertension ISO RGD:708423 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle (rat) PMID:24388463|REF_RGD_ID:7800726 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:11476 osteoporosis ISO RGD:1344166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteoporosis PMID:25741868 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:1686 glaucoma treatment ISO RGD:1551416 D RGD:9068941 20200609 RGD PMID:18936150|PMID:20664796|REF_RGD_ID:7800698|REF_RGD_ID:7800720 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:224 transient cerebral ischemia ISO RGD:1551416 D RGD:9068941 20200609 RGD protein:altered expression:brain PMID:22345048|REF_RGD_ID:7800722 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:224 transient cerebral ischemia treatment ISO RGD:708423 D RGD:9068941 20200609 RGD PMID:24633199|REF_RGD_ID:13208946 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:4483 rhinitis ISO RGD:708423 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:nasal cavity mucosa (rat) PMID:28146064|REF_RGD_ID:13204839 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:5419 schizophrenia ISO RGD:1344166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:5723 optic atrophy ISO RGD:1344166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:11440988|PMID:12036970|PMID:19112530|PMID:20157015|PMID:20952381|PMID:25012220|PMID:25741868|PMID:28492532|PMID:34242285 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:5844 myocardial infarction treatment ISO RGD:708423 D RGD:9068941 20200609 RGD PMID:20886221|REF_RGD_ID:12738232 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:6000 congestive heart failure ISO RGD:1344166 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:19493956|REF_RGD_ID:7800717 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:6000 congestive heart failure ISO RGD:708423 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:19493956|REF_RGD_ID:7800717 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:630 genetic disease ISO RGD:1344166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11440988|PMID:11440989|PMID:14961560|PMID:16158427|PMID:17576681|PMID:17722006|PMID:18496845|PMID:19319978|PMID:19900585|PMID:20157015|PMID:20952381|PMID:21636302|PMID:23384603|PMID:24970096|PMID:25012220|PMID:25146915|PMID:25146916|PMID:25741868|PMID:26467025|PMID:27290639|PMID:28005958|PMID:28378518|PMID:28492532|PMID:28494813|PMID:30293569|PMID:30972688|PMID:31782039|PMID:32040484|PMID:32202296|PMID:32371413|PMID:33084218|PMID:33841295|PMID:34242285|PMID:34426522|PMID:34732400|PMID:9536098 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:700 mitochondrial metabolism disease ISO RGD:1344166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: mitochondrial disorder PMID:11017079|PMID:11440988|PMID:11440989|PMID:11810270|PMID:12036970|PMID:12566046|PMID:14644237|PMID:14961560|PMID:15505825|PMID:15531309|PMID:16158427|PMID:16240368|PMID:16513463|PMID:17722006|PMID:18065439|PMID:18158317|PMID:18222991|PMID:19029523|PMID:19319978|PMID:20157015|PMID:20185555|PMID:20301426|PMID:20417570|PMID:20659957|PMID:20952381|PMID:21636302|PMID:21646330|PMID:22042570|PMID:22382025|PMID:22433900|PMID:22857269|PMID:23250881|PMID:23401657|PMID:24907432|PMID:25012220|PMID:25641387|PMID:25741868|PMID:26385429|PMID:26467025|PMID:28378518|PMID:28492532|PMID:28812649|PMID:28926202|PMID:30293569|PMID:31609081|PMID:31673222|PMID:33546218|PMID:4058877|PMID:6493699|PMID:9490303|PMID:9917792 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:784 chronic kidney disease treatment ISO RGD:708423 D RGD:9068941 20200609 RGD PMID:27801955|REF_RGD_ID:12738369 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:8398 osteoarthritis ISO RGD:1344166 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:8501 fundus dystrophy ISO RGD:1344166 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11017079|PMID:11440988|PMID:11440989|PMID:11810270|PMID:12036970|PMID:14961560|PMID:15505825|PMID:16513463|PMID:17251483|PMID:18222991|PMID:20157015|PMID:20417570|PMID:20659957|PMID:20952381|PMID:21636302|PMID:21646330|PMID:22042570|PMID:22857269|PMID:23250881|PMID:23401657|PMID:24907432|PMID:25012220|PMID:25205859|PMID:25641387|PMID:25741868|PMID:26385429|PMID:26467025|PMID:28492532|PMID:28812649|PMID:32025183|PMID:32855858|PMID:33546218|PMID:33884488|PMID:34242285|PMID:9490303|PMID:9917792 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9001062 Normal Tension Glaucoma ISO RGD:1344166 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: GLAUCOMA, NORMAL PRESSURE, SUSCEPTIBILITY TO PMID:11017079|PMID:11440988|PMID:11440989|PMID:11810270|PMID:12036970|PMID:14961560|PMID:15505825|PMID:16513463|PMID:18222991|PMID:20157015|PMID:20417570|PMID:20659957|PMID:20952381|PMID:21636302|PMID:21646330|PMID:22042570|PMID:22857269|PMID:23250881|PMID:23401657|PMID:24907432|PMID:25012220|PMID:25641387|PMID:25741868|PMID:26385429|PMID:26467025|PMID:28492532|PMID:28812649|PMID:33546218|PMID:9490303|PMID:9917792 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9001062 Normal Tension Glaucoma susceptibility ISO RGD:1344166 D RGD:7240710 20230517 OMIM 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9001725 Retina Reperfusion Injury ISO RGD:708423 D RGD:9068941 20200609 RGD protein:increased expression:retina, cytosol (rat) PMID:19122832|REF_RGD_ID:13208943 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9003936 Cardiomegaly ISO RGD:1551416 D RGD:9068941 20200609 RGD PMID:22406748|REF_RGD_ID:7800697 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9003936 Cardiomegaly ISO RGD:708423 D RGD:9068941 20200609 RGD associated with Hypertension PMID:24388463|REF_RGD_ID:7800726 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9003936 Cardiomegaly treatment ISO RGD:1551416 D RGD:9068941 20200609 RGD PMID:28503736|REF_RGD_ID:12910714 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9004610 Acute Lung Injury ISO RGD:708423 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:lung (rat) PMID:25560372|REF_RGD_ID:12437080 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9004635 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY ISO RGD:1344166 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without early-onset generalized epilepsy PMID:17722006|PMID:18496845|PMID:19319978|PMID:19900585|PMID:21636302|PMID:24970096|PMID:25012220|PMID:25146915|PMID:25146916|PMID:25741868|PMID:26467025|PMID:27290639|PMID:28378518|PMID:28492532|PMID:28494813|PMID:30293569|PMID:30972688|PMID:31782039|PMID:32040484|PMID:32202296|PMID:32371413|PMID:33841295|PMID:34242285|PMID:34426522|PMID:34732400 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9004991 Holoprosencephaly 12 ISO RGD:1344166 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 12 with or without pancreatic agenesis PMID:25741868|PMID:28492532 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9005532 Muscle Weakness ISO RGD:1344166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:19303950|PMID:20157015|PMID:22857269|PMID:25741868|PMID:26467025|PMID:27890673|PMID:28492532 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:708423 D RGD:9068941 20200609 RGD PMID:27491814|REF_RGD_ID:12910831 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9007174 Ventricular Remodeling ISO RGD:1344166 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20886221 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9007588 Heart Injuries ISO RGD:708423 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart (rat) PMID:25677476|REF_RGD_ID:12437078 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9008824 Sarcopenia ISO RGD:708423 D RGD:9068941 20200609 RGD protein:increased expression:extensor digitorum longus (rat) PMID:23220115|REF_RGD_ID:12738219 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9282 ocular hypertension ISO RGD:708423 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina PMID:21220562|REF_RGD_ID:7800684 11934321 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9452 fatty liver disease ISO RGD:708423 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:24663492|REF_RGD_ID:12453042 11934361 CASTOR2 cytosolic arginine sensor for mTORC1 subunit 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2306471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11934371 KCNE4 potassium voltage-gated channel subfamily E regulatory subunit 4 gene DOID:630 genetic disease ISO RGD:1346142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934371 KCNE4 potassium voltage-gated channel subfamily E regulatory subunit 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11934382 CTAGE1 cutaneous T cell lymphoma-associated antigen 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1349885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 11934382 CTAGE1 cutaneous T cell lymphoma-associated antigen 1 gene DOID:1059 intellectual disability ISO RGD:1349885 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11934382 CTAGE1 cutaneous T cell lymphoma-associated antigen 1 gene DOID:630 genetic disease ISO RGD:1349885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934392 SLC22A16 solute carrier family 22 member 16 gene DOID:0080600 COVID-19 ISO RGD:1344136 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11934392 SLC22A16 solute carrier family 22 member 16 gene DOID:630 genetic disease ISO RGD:1344136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934392 SLC22A16 solute carrier family 22 member 16 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1344136 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11934415 AEBP1 AE binding protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1315812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11934415 AEBP1 AE binding protein 1 gene DOID:0080732 Ehlers-Danlos syndrome classic-like 2 ISO RGD:1315812 D RGD:7240710 20190315 OMIM 11934415 AEBP1 AE binding protein 1 gene DOID:0080732 Ehlers-Danlos syndrome classic-like 2 ISO RGD:1315812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic-like, 2 PMID:16199547|PMID:25741868|PMID:27023906|PMID:28492532|PMID:29606302|PMID:30548383 11934415 AEBP1 AE binding protein 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1315812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:25741868|PMID:30759870 11934415 AEBP1 AE binding protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11934415 AEBP1 AE binding protein 1 gene DOID:630 genetic disease ISO RGD:1315812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11934415 AEBP1 AE binding protein 1 gene DOID:9002189 High Myopia ISO RGD:1315812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11934440 SMAD2 SMAD family member 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1347299 D RGD:9068941 20220624 RGD mRNA:increased expression:blood plasma (human) PMID:31874165|REF_RGD_ID:152995482 11934440 SMAD2 SMAD family member 2 gene DOID:0060356 Vici syndrome ISO RGD:1347299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 11934440 SMAD2 SMAD family member 2 gene DOID:0111243 acromicric dysplasia ISO RGD:1347299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 11934440 SMAD2 SMAD family member 2 gene DOID:1059 intellectual disability ISO RGD:1347299 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11934440 SMAD2 SMAD family member 2 gene DOID:11054 urinary bladder cancer ISO RGD:736957 D RGD:9068941 20200609 RGD PMID:15548366|REF_RGD_ID:2299964 11934440 SMAD2 SMAD family member 2 gene DOID:1380 endometrial cancer ISO RGD:1347299 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:12883738|REF_RGD_ID:2299970 11934440 SMAD2 SMAD family member 2 gene DOID:1793 pancreatic cancer ISO RGD:1347299 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (human) PMID:10505717|REF_RGD_ID:14394490 11934440 SMAD2 SMAD family member 2 gene DOID:219 colon cancer treatment ISO RGD:3031 D RGD:9068941 20210611 RGD PMID:33360052|REF_RGD_ID:127229954 11934440 SMAD2 SMAD family member 2 gene DOID:229 female reproductive system disease ISO RGD:736957 D RGD:9068941 20200609 RGD Endosalpingiosis PMID:16141389|REF_RGD_ID:2299962 11934440 SMAD2 SMAD family member 2 gene DOID:2394 ovarian cancer ISO RGD:1347299 D RGD:9068941 20200609 RGD DNA:deletion, polymorphisms PMID:10969799|REF_RGD_ID:2299974 11934440 SMAD2 SMAD family member 2 gene DOID:3459 breast carcinoma disease_progression ISO RGD:1347299 D RGD:9068941 20200609 RGD PMID:11809701|REF_RGD_ID:2300007 11934440 SMAD2 SMAD family member 2 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:1347299 D RGD:9068941 20200609 RGD PMID:26908446|REF_RGD_ID:14394493 11934440 SMAD2 SMAD family member 2 gene DOID:3883 Lynch syndrome ISO RGD:1347299 D RGD:9068941 20200609 RGD PMID:10819637|REF_RGD_ID:1599900 11934440 SMAD2 SMAD family member 2 gene DOID:4001 ovarian carcinoma ISO RGD:1347299 D RGD:9068941 20200609 RGD PMID:14985451|REF_RGD_ID:2299967 11934440 SMAD2 SMAD family member 2 gene DOID:4297 scimitar syndrome ISO RGD:1347299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anomalous pulmonary venous return 11934440 SMAD2 SMAD family member 2 gene DOID:4362 cervical cancer ISO RGD:1347299 D RGD:9068941 20200609 RGD DNA, mRNA:insertion, deletion, decreased expression:uterine cervix PMID:12894231|REF_RGD_ID:2299968 11934440 SMAD2 SMAD family member 2 gene DOID:4450 renal cell carcinoma severity ISO RGD:1347299 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:11332076|REF_RGD_ID:2299973 11934440 SMAD2 SMAD family member 2 gene DOID:5844 myocardial infarction treatment ISO RGD:3031 D RGD:9068941 20200609 RGD PMID:11087260|REF_RGD_ID:12903276 11934440 SMAD2 SMAD family member 2 gene DOID:630 genetic disease ISO RGD:1347299 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30157302 11934440 SMAD2 SMAD family member 2 gene DOID:684 hepatocellular carcinoma ISO RGD:3031 D RGD:9068941 20200609 RGD PMID:18971187|REF_RGD_ID:12880056 11934440 SMAD2 SMAD family member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16570350 11934440 SMAD2 SMAD family member 2 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:3031 D RGD:9068941 20200609 RGD mRNA:increased expression:hypoglossal nucleus PMID:17166487|REF_RGD_ID:1643227 11934440 SMAD2 SMAD family member 2 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1347299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 11934440 SMAD2 SMAD family member 2 gene DOID:9004582 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY ISO RGD:1347299 D RGD:7240710 20220209 OMIM 11934440 SMAD2 SMAD family member 2 gene DOID:9004582 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY ISO RGD:1347299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY PMID:23665959|PMID:30157302 11934440 SMAD2 SMAD family member 2 gene DOID:9006321 LOEYS-DIETZ SYNDROME 6 ISO RGD:1347299 D RGD:7240710 20220209 OMIM 11934440 SMAD2 SMAD family member 2 gene DOID:9006321 LOEYS-DIETZ SYNDROME 6 ISO RGD:1347299 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 6 PMID:15210694|PMID:25741868|PMID:26247899|PMID:28283438|PMID:28492532|PMID:29392890|PMID:29967133|PMID:30157302|PMID:34655614 11934440 SMAD2 SMAD family member 2 gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:1347299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 11934440 SMAD2 SMAD family member 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:1347299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16635409 11934440 SMAD2 SMAD family member 2 gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:736957 D RGD:9068941 20230406 RGD associated with myocardial infarction PMID:25726944|REF_RGD_ID:11252030 11934440 SMAD2 SMAD family member 2 gene DOID:9008510 Chronic Hepatitis ISO RGD:1347299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 11934440 SMAD2 SMAD family member 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1347299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15183723|PMID:9655392 11934467 TECTB tectorin beta gene DOID:630 genetic disease ISO RGD:1314106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934486 ESRRA estrogen related receptor alpha gene DOID:0014667 disease of metabolism ISO RGD:730826 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16515477 11934486 ESRRA estrogen related receptor alpha gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:730826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11934486 ESRRA estrogen related receptor alpha gene DOID:1059 intellectual disability ISO RGD:730826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11934486 ESRRA estrogen related receptor alpha gene DOID:11476 osteoporosis ISO RGD:730827 D RGD:9068941 20200609 RGD PMID:19936213|REF_RGD_ID:10401868 11934486 ESRRA estrogen related receptor alpha gene DOID:3070 high grade glioma ISO RGD:730826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11934486 ESRRA estrogen related receptor alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:730826 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:22975021 11934486 ESRRA estrogen related receptor alpha gene DOID:3347 osteosarcoma ISO RGD:730826 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:24967384|PMID:34524571 11934486 ESRRA estrogen related receptor alpha gene DOID:6000 congestive heart failure ISO RGD:730826 D RGD:9068941 20200609 RGD protein:decreased expression:heart: PMID:21825219|REF_RGD_ID:10401867 11934486 ESRRA estrogen related receptor alpha gene DOID:630 genetic disease ISO RGD:730826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934486 ESRRA estrogen related receptor alpha gene DOID:9000918 Disease Progression ISO RGD:730826 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34524571 11934486 ESRRA estrogen related receptor alpha gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:730827 D RGD:9068941 20200609 RGD PMID:21825219|REF_RGD_ID:10401867 11934486 ESRRA estrogen related receptor alpha gene DOID:9002170 Experimental Neoplasms ISO RGD:730826 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34524571 11934486 ESRRA estrogen related receptor alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23090186 11934486 ESRRA estrogen related receptor alpha gene DOID:9008939 Breast Neoplasms ISO RGD:730826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20961995 11934486 ESRRA estrogen related receptor alpha gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:730826 D RGD:9068941 20200609 RGD PMID:16755280|REF_RGD_ID:1625637 11934486 ESRRA estrogen related receptor alpha gene DOID:9970 obesity no_association ISO RGD:730826 D RGD:9068941 20200609 RGD PMID:16755280|REF_RGD_ID:1625637 11934501 ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11934501 ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1312226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 11934501 ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0080312 neurodevelopmental disorder with midbrain and hindbrain malformations ISO RGD:1312226 D RGD:7240710 20190315 OMIM 11934501 ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0080312 neurodevelopmental disorder with midbrain and hindbrain malformations ISO RGD:1312226 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with midbrain and hindbrain malformations PMID:25741868|PMID:28453519|PMID:28492532 11934501 ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1312226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11934501 ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1312226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11934501 ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1312226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11934501 ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:10907 microcephaly ISO RGD:1312226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11934501 ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1312226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11934501 ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:2661 myoepithelioma ISO RGD:1312226 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11934501 ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:5812 MHC class II deficiency ISO RGD:1312226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11934501 ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:630 genetic disease ISO RGD:1312226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934501 ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11934581 PLGRKT plasminogen receptor with a C-terminal lysine gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1315681 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 11934581 PLGRKT plasminogen receptor with a C-terminal lysine gene DOID:630 genetic disease ISO RGD:1315681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934594 TRPT1 tRNA phosphotransferase 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1349455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11934594 TRPT1 tRNA phosphotransferase 1 gene DOID:1059 intellectual disability ISO RGD:1349455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11934594 TRPT1 tRNA phosphotransferase 1 gene DOID:3070 high grade glioma ISO RGD:1349455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11934594 TRPT1 tRNA phosphotransferase 1 gene DOID:630 genetic disease ISO RGD:1349455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934638 ZNF496 zinc finger protein 496 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1312150 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11934638 ZNF496 zinc finger protein 496 gene DOID:1540 parathyroid carcinoma ISO RGD:1312150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11934638 ZNF496 zinc finger protein 496 gene DOID:630 genetic disease ISO RGD:1312150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934638 ZNF496 zinc finger protein 496 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11934665 MRPS34 mitochondrial ribosomal protein S34 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1313761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 11934665 MRPS34 mitochondrial ribosomal protein S34 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1313761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11934665 MRPS34 mitochondrial ribosomal protein S34 gene DOID:0111492 combined oxidative phosphorylation deficiency 32 ISO RGD:1313761 D RGD:7240710 20190315 OMIM 11934665 MRPS34 mitochondrial ribosomal protein S34 gene DOID:0111492 combined oxidative phosphorylation deficiency 32 ISO RGD:1313761 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 32 PMID:25741868|PMID:28492532|PMID:2877793|PMID:28777931|PMID:35326425 11934665 MRPS34 mitochondrial ribosomal protein S34 gene DOID:1826 epilepsy ISO RGD:1313761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11934665 MRPS34 mitochondrial ribosomal protein S34 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1313761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11934665 MRPS34 mitochondrial ribosomal protein S34 gene DOID:3652 Leigh disease ISO RGD:1313761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:2877793|PMID:28777931 11934665 MRPS34 mitochondrial ribosomal protein S34 gene DOID:630 genetic disease ISO RGD:1313761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11934677 SPINK14 serine peptidase inhibitor Kazal type 14 (putative) gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601681 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11934677 SPINK14 serine peptidase inhibitor Kazal type 14 (putative) gene DOID:630 genetic disease ISO RGD:1601681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934677 SPINK14 serine peptidase inhibitor Kazal type 14 (putative) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11934677 SPINK14 serine peptidase inhibitor Kazal type 14 (putative) gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601681 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11934690 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:0060812 syndromic X-linked intellectual disability Siderius type ISO RGD:737217 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Siderius type PMID:25741868 11934690 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:737217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 11934690 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:0111545 familial male-limited precocious puberty ISO RGD:737217 D RGD:7240710 20180130 OMIM 11934690 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:0111545 familial male-limited precocious puberty ISO RGD:737217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial male-limited precocious puberty | ClinVar Annotator: match by term: Gonadotropin-independent familial sexual precocity PMID:10084607|PMID:11134146|PMID:11391350|PMID:11849253|PMID:11867621|PMID:12679452|PMID:16123233|PMID:16684832|PMID:16887451|PMID:17030087|PMID:17055147|PMID:17055151|PMID:21490077|PMID:2244890|PMID:23686864|PMID:23861372|PMID:23982246|PMID:25741868|PMID:25741869|PMID:26040673|PMID:26467025|PMID:27532428|PMID:28339861|PMID:28492532|PMID:29654692|PMID:30283825|PMID:31967000|PMID:7527413|PMID:7556872|PMID:7562970|PMID:7692306|PMID:7714085|PMID:7757065|PMID:7892197|PMID:8855841|PMID:8929952|PMID:8943222|PMID:9039330|PMID:9467560|PMID:9661624|PMID:9703386|PMID:9851790 11934690 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:0112259 Leydig cell hypoplasia ISO RGD:737217 D RGD:7240710 20180130 OMIM 11934690 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:0112259 Leydig cell hypoplasia ISO RGD:737217 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HYPERGONADOTROPIC HYPOGONADISM, MALE, DUE TO LHCGR DEFECT | ClinVar Annotator: match by term: Leydig cell agenesis | ClinVar Annotator: match by term: Luteinizing hormone resistance, female PMID:11041448|PMID:11849253|PMID:12050206|PMID:12679452|PMID:15372531|PMID:15472221|PMID:16123233|PMID:21490077|PMID:2244890|PMID:23861372|PMID:25741868|PMID:25741869|PMID:26040673|PMID:26246498|PMID:26467025|PMID:27016457|PMID:27533885|PMID:28339861|PMID:28492532|PMID:30283825|PMID:31967000|PMID:7527413|PMID:7556872|PMID:7562970|PMID:7581384|PMID:7692306|PMID:7714085|PMID:7719343|PMID:7757065|PMID:7892197|PMID:8559204|PMID:8855841|PMID:8923827|PMID:8943222|PMID:9514160|PMID:9626144|PMID:9703386|PMID:9817592|PMID:9851790 11934690 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:0112260 Leydig cell hypoplasia type I ISO RGD:737217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leydig cell hypoplasia, type 1 | ClinVar Annotator: match by term: Leydig hypoplasia, type I PMID:11041448|PMID:12679452|PMID:21490077|PMID:2244890|PMID:23861372|PMID:25741868|PMID:26040673|PMID:26246498|PMID:26467025|PMID:27016457|PMID:27533885|PMID:28339861|PMID:28492532|PMID:30283825|PMID:31967000|PMID:7527413|PMID:7556872|PMID:7562970|PMID:7692306|PMID:7714085|PMID:7757065|PMID:7892197|PMID:8559204|PMID:8855841|PMID:8943222|PMID:9703386|PMID:9851790 11934690 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:0112261 Leydig cell hypoplasia type II ISO RGD:737217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leydig cell hypoplasia, type II PMID:10852464|PMID:9215288|PMID:9626653 11934690 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:12336 male infertility ISO RGD:737217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20164437 11934690 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:1612 breast cancer ISO RGD:737217 D RGD:9068941 20200609 RGD DNA:SNP:CDS:rs2293275, 312Asn allele associated with a slight increase in risk in two patient cohorts (p=0.03 and p=0.001) PMID:17709176|REF_RGD_ID:2292539 11934690 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:1612 breast cancer onset ISO RGD:737217 D RGD:9068941 20200609 RGD DNA:insertion:CDS:insLQ allele associated with earlier onset (51.9 vs 60.2 yrs, p=0.03) PMID:12679452|REF_RGD_ID:2292545 11934690 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:1612 breast cancer severity ISO RGD:737217 D RGD:9068941 20200609 RGD DNA:insertion:CDS:insLQ allele associated with decreased disease free survival alone (p=0.007) or in combination with the 16Ser allele of GNRH1 (p=0.001) PMID:17692113|REF_RGD_ID:2292541 11934690 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:1923 disorder of sexual development ISO RGD:737217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22615892 11934690 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:1924 hypogonadism ISO RGD:737217 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hypergonadotropic hypogonadism PMID:12679452|PMID:2244890|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7556872|PMID:9851790 11934690 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:2277 gonadal disease susceptibility ISO RGD:737217 D RGD:9068941 20200609 RGD DNA:transition: ; 1192T>C, precocious puberty, OMIM:176410 PMID:8929952|REF_RGD_ID:1600291 11934690 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:2696 Leydig cell tumor ISO RGD:10870 D RGD:9068941 20200609 RGD PMID:15967102|REF_RGD_ID:2302176 11934690 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:2696 Leydig cell tumor ISO RGD:737217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10580072|PMID:11857565 11934690 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:2696 Leydig cell tumor ISO RGD:737217 D RGD:9068941 20200609 RGD DNA:transversion:CDS:1732G>C, amino acid D578H PMID:11857565|REF_RGD_ID:2292537 11934690 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:2999 granulosa cell tumor ISO RGD:10870 D RGD:9068941 20200609 RGD PMID:15967102|REF_RGD_ID:2302176 11934690 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:2999 granulosa cell tumor ISO RGD:737217 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.05) PMID:11994539|REF_RGD_ID:2289157 11934690 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:3114 serous cystadenocarcinoma ISO RGD:737217 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.05) PMID:11994539|REF_RGD_ID:2289157 11934690 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:3603 mucinous cystadenocarcinoma ISO RGD:737217 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.01) PMID:11994539|REF_RGD_ID:2289157 11934690 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:3765 pseudohermaphroditism ISO RGD:737217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudohermaphroditism 11934690 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:630 genetic disease ISO RGD:737217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11934690 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:9002762 Ovarian Neoplasms ISO RGD:737217 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary PMID:11994539|REF_RGD_ID:2289157 11934690 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:9002826 Somatic Leydig Cell Adenoma, with Male-Limited Precocious Puberty ISO RGD:737217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leydig cell adenoma, somatic, with male-limited precocious puberty PMID:10580072|PMID:11857565 11934690 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:737217 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 11934690 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3007 D RGD:9068941 20200609 RGD mRNA:splice variant (rat) PMID:15044717|REF_RGD_ID:2302177 11934690 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:9008502 Anorchia ISO RGD:737217 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Testicular regression syndrome PMID:25741868 11934706 MCU mitochondrial calcium uniporter gene DOID:630 genetic disease ISO RGD:1343502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934721 ARAP2 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 gene DOID:630 genetic disease ISO RGD:1315077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934759 IQCF2 IQ motif containing F2 gene DOID:630 genetic disease ISO RGD:1350039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934769 LHX9 LIM homeobox 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1354474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11934769 LHX9 LIM homeobox 9 gene DOID:630 genetic disease ISO RGD:1354474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934769 LHX9 LIM homeobox 9 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1354474 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 11934769 LHX9 LIM homeobox 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11934782 CXHXorf58 chromosome X CXorf58 homolog gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11934782 CXHXorf58 chromosome X CXorf58 homolog gene DOID:12849 autistic disorder ISO RGD:1605257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11934782 CXHXorf58 chromosome X CXorf58 homolog gene DOID:630 genetic disease ISO RGD:1605257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934782 CXHXorf58 chromosome X CXorf58 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11934797 CCL14 C-C motif chemokine ligand 14 gene DOID:630 genetic disease ISO RGD:1604060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934797 CCL14 C-C motif chemokine ligand 14 gene DOID:684 hepatocellular carcinoma ISO RGD:1604060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11934808 MYLK4 myosin light chain kinase family member 4 gene DOID:2843 long QT syndrome ISO RGD:1604705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11934808 MYLK4 myosin light chain kinase family member 4 gene DOID:630 genetic disease ISO RGD:1604705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934857 TXNDC17 thioredoxin domain containing 17 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1318890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:28492532 11934857 TXNDC17 thioredoxin domain containing 17 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1318890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 11934857 TXNDC17 thioredoxin domain containing 17 gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:1318890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 11934857 TXNDC17 thioredoxin domain containing 17 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1318890 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11934857 TXNDC17 thioredoxin domain containing 17 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1318890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 11934857 TXNDC17 thioredoxin domain containing 17 gene DOID:630 genetic disease ISO RGD:1318890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934865 VSIG8 V-set and immunoglobulin domain containing 8 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1603819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11934865 VSIG8 V-set and immunoglobulin domain containing 8 gene DOID:1540 parathyroid carcinoma ISO RGD:1603819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11934865 VSIG8 V-set and immunoglobulin domain containing 8 gene DOID:630 genetic disease ISO RGD:1603819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934865 VSIG8 V-set and immunoglobulin domain containing 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11934876 MKLN1 muskelin 1 gene DOID:2722 acrodermatitis ISO RGD:12082382 D RGD:9068941 20210604 OMIA Acrodermatitis, lethal PMID:10563006|PMID:11105789|PMID:11440398|PMID:14592736|PMID:17693109|PMID:2402865|PMID:29565995|PMID:3710872|PMID:8981276|PMID:9256960 11934876 MKLN1 muskelin 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:734391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11934876 MKLN1 muskelin 1 gene DOID:630 genetic disease ISO RGD:734391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934935 NRSN2 neurensin 2 gene DOID:630 genetic disease ISO RGD:1313267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934935 NRSN2 neurensin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11934959 GPRC5B G protein-coupled receptor class C group 5 member B gene DOID:630 genetic disease ISO RGD:1319887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934973 CCDC51 coiled-coil domain containing 51 gene DOID:630 genetic disease ISO RGD:1602866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934973 CCDC51 coiled-coil domain containing 51 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1602866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11934999 RAI14 retinoic acid induced 14 gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:1314269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:28492532 11934999 RAI14 retinoic acid induced 14 gene DOID:630 genetic disease ISO RGD:1314269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11934999 RAI14 retinoic acid induced 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11935024 SHISA2 shisa family member 2 gene DOID:630 genetic disease ISO RGD:1353356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935031 SCGB1D2 secretoglobin family 1D member 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1345787 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11935031 SCGB1D2 secretoglobin family 1D member 2 gene DOID:1059 intellectual disability ISO RGD:1345787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11935031 SCGB1D2 secretoglobin family 1D member 2 gene DOID:630 genetic disease ISO RGD:1345787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935038 DPPA3 developmental pluripotency associated 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1352490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11935038 DPPA3 developmental pluripotency associated 3 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1352490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11935038 DPPA3 developmental pluripotency associated 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1352490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11935038 DPPA3 developmental pluripotency associated 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1352490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11935038 DPPA3 developmental pluripotency associated 3 gene DOID:0111621 Temtamy syndrome ISO RGD:1352490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11935038 DPPA3 developmental pluripotency associated 3 gene DOID:630 genetic disease ISO RGD:1352490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935038 DPPA3 developmental pluripotency associated 3 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1352490 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16168501 11935038 DPPA3 developmental pluripotency associated 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1352490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11935047 DNAJB12 DnaJ heat shock protein family (Hsp40) member B12 gene DOID:630 genetic disease ISO RGD:1348292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935076 FAM89A family with sequence similarity 89 member A gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1602405 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 11935076 FAM89A family with sequence similarity 89 member A gene DOID:0080600 COVID-19 ISO RGD:1602405 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11935076 FAM89A family with sequence similarity 89 member A gene DOID:1540 parathyroid carcinoma ISO RGD:1602405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11935076 FAM89A family with sequence similarity 89 member A gene DOID:630 genetic disease ISO RGD:1602405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935076 FAM89A family with sequence similarity 89 member A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11935076 FAM89A family with sequence similarity 89 member A gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1602405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 11935076 FAM89A family with sequence similarity 89 member A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11935082 SLC25A42 solute carrier family 25 member 42 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1604178 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 11935082 SLC25A42 solute carrier family 25 member 42 gene DOID:630 genetic disease ISO RGD:1604178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11935082 SLC25A42 solute carrier family 25 member 42 gene DOID:699 mitochondrial myopathy ISO RGD:1604178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial Myopathies PMID:25741868|PMID:26541337|PMID:29327420|PMID:29923093|PMID:30237576 11935082 SLC25A42 solute carrier family 25 member 42 gene DOID:9007390 Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression ISO RGD:1604178 D RGD:7240710 20190612 OMIM 11935082 SLC25A42 solute carrier family 25 member 42 gene DOID:9007390 Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression ISO RGD:1604178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression PMID:25741868|PMID:26541337|PMID:29327420|PMID:29923093|PMID:30237576 11935082 SLC25A42 solute carrier family 25 member 42 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1604178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11935097 TLN2 talin 2 gene DOID:2661 myoepithelioma ISO RGD:1350417 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11935097 TLN2 talin 2 gene DOID:2717 Bloom syndrome ISO RGD:1350417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11935097 TLN2 talin 2 gene DOID:630 genetic disease ISO RGD:1350417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935097 TLN2 talin 2 gene DOID:9256 colorectal cancer ISO RGD:1350417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11935185 PTGES3 prostaglandin E synthase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1606321 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11935185 PTGES3 prostaglandin E synthase 3 gene DOID:1612 breast cancer ISO RGD:1606321 D RGD:9068941 20200609 RGD protein:increased expression:breast tumor cell, cytoplasm (human) PMID:20847343|REF_RGD_ID:5688064 11935185 PTGES3 prostaglandin E synthase 3 gene DOID:1936 atherosclerosis ISO RGD:1606321 D RGD:9068941 20200609 RGD protein:decreased expression:mammary arteries (human) PMID:14736553|REF_RGD_ID:5688075 11935185 PTGES3 prostaglandin E synthase 3 gene DOID:3181 oligodendroglioma ISO RGD:1606321 D RGD:9068941 20200609 RGD protein:increased expression:brain cortex, white matter (human) PMID:19347995|REF_RGD_ID:5688067 11935185 PTGES3 prostaglandin E synthase 3 gene DOID:3602 toxic encephalopathy ISO RGD:1606321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29471019 11935185 PTGES3 prostaglandin E synthase 3 gene DOID:630 genetic disease ISO RGD:1606321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935185 PTGES3 prostaglandin E synthase 3 gene DOID:9002211 Hyperalgesia ISO RGD:1561913 D RGD:9068941 20200609 RGD PMID:16192391|REF_RGD_ID:5688057 11935185 PTGES3 prostaglandin E synthase 3 gene DOID:9002457 Experimental Arthritis ISO RGD:1561913 D RGD:9068941 20200609 RGD mRNA:increased expression:paw (rat) PMID:12707354|REF_RGD_ID:2300108 11935219 TMEM184A transmembrane protein 184A gene DOID:630 genetic disease ISO RGD:1603256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935234 LDHB lactate dehydrogenase B gene DOID:0060074 ductal carcinoma in situ ISO RGD:735463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23437403 11935234 LDHB lactate dehydrogenase B gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:735463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:28492532 11935234 LDHB lactate dehydrogenase B gene DOID:4450 renal cell carcinoma ISO RGD:735463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 11935234 LDHB lactate dehydrogenase B gene DOID:630 genetic disease ISO RGD:735463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935234 LDHB lactate dehydrogenase B gene DOID:655 inherited metabolic disorder ISO RGD:735463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2334429 11935234 LDHB lactate dehydrogenase B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11935234 LDHB lactate dehydrogenase B gene DOID:9001686 Acute Coronary Syndrome ISO RGD:735463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 11935234 LDHB lactate dehydrogenase B gene DOID:9002304 Prostatic Neoplasms ISO RGD:735463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 11935234 LDHB lactate dehydrogenase B gene DOID:9002868 Lactate Dehydrogenase B Deficiency ISO RGD:735463 D RGD:7240710 20180130 OMIM 11935234 LDHB lactate dehydrogenase B gene DOID:9002868 Lactate Dehydrogenase B Deficiency ISO RGD:735463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lactate dehydrogenase B deficiency PMID:10509905|PMID:1587525|PMID:2334429|PMID:28492532|PMID:8314553 11935234 LDHB lactate dehydrogenase B gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 11935234 LDHB lactate dehydrogenase B gene DOID:9008939 Breast Neoplasms ISO RGD:735463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23437403 11935251 TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 gene DOID:0050453 lissencephaly ISO RGD:1605568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11935251 TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 gene DOID:0050777 Joubert syndrome ISO RGD:1605568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:19764032|PMID:23954617|PMID:27821535|PMID:28492532 11935251 TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 gene DOID:0112233 lissencephaly 8 ISO RGD:1605568 D RGD:7240710 20190315 OMIM 11935251 TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 gene DOID:0112233 lissencephaly 8 ISO RGD:1605568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lissencephaly 8 PMID:25741868|PMID:27773428|PMID:28097321|PMID:28492532|PMID:28973161 11935251 TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 gene DOID:630 genetic disease ISO RGD:1605568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11935272 LYPD6B LY6/PLAUR domain containing 6B gene DOID:630 genetic disease ISO RGD:1602653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935288 IDI2 isopentenyl-diphosphate delta isomerase 2 gene DOID:630 genetic disease ISO RGD:1317828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935295 ZNF408 zinc finger protein 408 gene DOID:0050535 exudative vitreoretinopathy ISO RGD:1315189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial exudative vitreoretinopathy 11935295 ZNF408 zinc finger protein 408 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1315189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11935295 ZNF408 zinc finger protein 408 gene DOID:0110395 retinitis pigmentosa 72 ISO RGD:1315189 D RGD:7240710 20180130 OMIM 11935295 ZNF408 zinc finger protein 408 gene DOID:0110395 retinitis pigmentosa 72 ISO RGD:1315189 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 72 PMID:25741868|PMID:25882705|PMID:28492532 11935295 ZNF408 zinc finger protein 408 gene DOID:0111410 exudative vitreoretinopathy 6 ISO RGD:1315189 D RGD:7240710 20180130 OMIM 11935295 ZNF408 zinc finger protein 408 gene DOID:0111410 exudative vitreoretinopathy 6 ISO RGD:1315189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 6 PMID:23716654|PMID:25741868|PMID:25882705|PMID:28492532|PMID:29982478|PMID:6897033 11935295 ZNF408 zinc finger protein 408 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1315189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:23716654|PMID:27316669|PMID:28492532 11935295 ZNF408 zinc finger protein 408 gene DOID:10584 retinitis pigmentosa ISO RGD:1315189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa PMID:28095122 11935295 ZNF408 zinc finger protein 408 gene DOID:1059 intellectual disability ISO RGD:1315189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11935295 ZNF408 zinc finger protein 408 gene DOID:630 genetic disease ISO RGD:1315189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11935295 ZNF408 zinc finger protein 408 gene DOID:8501 fundus dystrophy ISO RGD:1315189 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:25882705|PMID:28492532 11935305 CCNK cyclin K gene DOID:630 genetic disease ISO RGD:1317544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935305 CCNK cyclin K gene DOID:9009238 INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES ISO RGD:1317544 D RGD:7240710 20190315 OMIM 11935305 CCNK cyclin K gene DOID:9009238 INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES ISO RGD:1317544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with hypertelorism and distinctive facies PMID:25741868|PMID:30122539 11935323 EPB42 erythrocyte membrane protein band 4.2 gene DOID:0110916 hereditary spherocytosis type 1 ISO RGD:1313259 D RGD:9068941 20220825 MouseDO OMIM:182900 11935323 EPB42 erythrocyte membrane protein band 4.2 gene DOID:0110920 hereditary spherocytosis type 5 ISO RGD:1313258 D RGD:7240710 20180130 OMIM 11935323 EPB42 erythrocyte membrane protein band 4.2 gene DOID:0110920 hereditary spherocytosis type 5 ISO RGD:1313258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis type 5 PMID:10406914|PMID:12176912|PMID:1558976|PMID:19508687|PMID:2386772|PMID:25741868|PMID:28492532|PMID:7772513|PMID:7803799|PMID:8319790|PMID:8528207|PMID:8547071 11935323 EPB42 erythrocyte membrane protein band 4.2 gene DOID:12971 hereditary spherocytosis ISO RGD:1313258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spherocytosis, Recessive 11935323 EPB42 erythrocyte membrane protein band 4.2 gene DOID:2717 Bloom syndrome ISO RGD:1313258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11935323 EPB42 erythrocyte membrane protein band 4.2 gene DOID:630 genetic disease ISO RGD:1313258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11935323 EPB42 erythrocyte membrane protein band 4.2 gene DOID:9256 colorectal cancer ISO RGD:1313258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11935346 GFM1 G elongation factor mitochondrial 1 gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1604558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:21119709|PMID:25741868|PMID:28216230|PMID:28492532|PMID:31683770 11935346 GFM1 G elongation factor mitochondrial 1 gene DOID:0111474 combined oxidative phosphorylation deficiency 1 ISO RGD:1604558 D RGD:7240710 20180130 OMIM 11935346 GFM1 G elongation factor mitochondrial 1 gene DOID:0111474 combined oxidative phosphorylation deficiency 1 ISO RGD:1604558 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 PMID:15537906|PMID:16199547|PMID:16632485|PMID:17160893|PMID:17576681|PMID:20843780|PMID:21119709|PMID:21364917|PMID:21986555|PMID:22277967|PMID:24033266|PMID:25741868|PMID:25852744|PMID:28216230|PMID:28492532|PMID:31680380|PMID:32313153|PMID:32746448|PMID:32776492|PMID:9536098 11935346 GFM1 G elongation factor mitochondrial 1 gene DOID:630 genetic disease ISO RGD:1604558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11935376 FSTL4 follistatin like 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1316293 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11935376 FSTL4 follistatin like 4 gene DOID:630 genetic disease ISO RGD:1316293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935376 FSTL4 follistatin like 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11935376 FSTL4 follistatin like 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316293 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11935396 SPACA7 sperm acrosome associated 7 gene DOID:2222 factor X deficiency ISO RGD:1606982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 11935396 SPACA7 sperm acrosome associated 7 gene DOID:630 genetic disease ISO RGD:1606982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935413 GDF10 growth differentiation factor 10 gene DOID:10283 prostate cancer ISO RGD:1342570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11935413 GDF10 growth differentiation factor 10 gene DOID:5419 schizophrenia ISO RGD:1342570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11935413 GDF10 growth differentiation factor 10 gene DOID:630 genetic disease ISO RGD:1342570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935413 GDF10 growth differentiation factor 10 gene DOID:9003566 Mesothelioma ISO RGD:1342570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18949431 11935413 GDF10 growth differentiation factor 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1342570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23180569 11935414 KLHDC10 kelch domain containing 10 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11935414 KLHDC10 kelch domain containing 10 gene DOID:630 genetic disease ISO RGD:1602130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935414 KLHDC10 kelch domain containing 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1602130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 11935431 TBX3 T-box transcription factor 3 gene DOID:0060614 ulnar-mammary syndrome ISO RGD:1345948 D RGD:7240710 20180130 OMIM 11935431 TBX3 T-box transcription factor 3 gene DOID:0060614 ulnar-mammary syndrome ISO RGD:1345948 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ulnar-mammary syndrome PMID:12116211|PMID:12668170|PMID:16530712|PMID:16896345|PMID:17576681|PMID:19938096|PMID:25741868|PMID:28145909|PMID:28492532|PMID:30654152|PMID:31669645|PMID:9207801|PMID:9536098 11935431 TBX3 T-box transcription factor 3 gene DOID:10534 stomach cancer disease_progression ISO RGD:1345948 D RGD:9068941 20220224 RGD protein:increased expression:stomach (human) PMID:27553355|REF_RGD_ID:151361120 11935431 TBX3 T-box transcription factor 3 gene DOID:2394 ovarian cancer ISO RGD:1345948 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17031801|REF_RGD_ID:2300329 11935431 TBX3 T-box transcription factor 3 gene DOID:50 thyroid gland disease ISO RGD:1345948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 11935431 TBX3 T-box transcription factor 3 gene DOID:5844 myocardial infarction ISO RGD:735203 D RGD:9068941 20200609 RGD PMID:19341743|REF_RGD_ID:5132891 11935431 TBX3 T-box transcription factor 3 gene DOID:630 genetic disease ISO RGD:1345948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12005433|PMID:25741868|PMID:28145909|PMID:28492532 11935431 TBX3 T-box transcription factor 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1557562 D RGD:9068941 20220224 RGD PMID:33577921|REF_RGD_ID:151361112 11935431 TBX3 T-box transcription factor 3 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1345948 D RGD:9068941 20220224 RGD human cells in mouse model PMID:22811581|PMID:26922018|REF_RGD_ID:151361123|REF_RGD_ID:151361132 11935431 TBX3 T-box transcription factor 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1345948 D RGD:9068941 20220224 RGD protein:increased expression:liver (human) PMID:30578408|REF_RGD_ID:151361122 11935431 TBX3 T-box transcription factor 3 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1345948 D RGD:9068941 20220224 RGD protein:increased expression:liver (human) PMID:29295731|REF_RGD_ID:151361114 11935431 TBX3 T-box transcription factor 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1345948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11935431 TBX3 T-box transcription factor 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 11935431 TBX3 T-box transcription factor 3 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1345948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9207801 11935431 TBX3 T-box transcription factor 3 gene DOID:9007096 Stroke ISO RGD:1345948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 11935431 TBX3 T-box transcription factor 3 gene DOID:9007653 Multiple Abnormalities susceptibility ISO RGD:1345948 D RGD:9068941 20200609 RGD Ulnar-Mammary Syndrome, OMIM:181450;DNA:deletions, missense mutations, frameshift mutations: :multiple PMID:10330342|REF_RGD_ID:1601419 11935431 TBX3 T-box transcription factor 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1345948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21098263 11935431 TBX3 T-box transcription factor 3 gene DOID:9009007 Tooth Abnormalities ISO RGD:1345948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9207801 11935431 TBX3 T-box transcription factor 3 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1345948 D RGD:9068941 20220224 RGD mRNA,protein:increased expression:colorectum (human) PMID:25628943|REF_RGD_ID:151361126 11935431 TBX3 T-box transcription factor 3 gene DOID:9970 obesity ISO RGD:1345948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:28492532 11935444 ZBTB1 zinc finger and BTB domain containing 1 gene DOID:630 genetic disease ISO RGD:1343689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935451 CTSG cathepsin G gene DOID:0060439 lysinuric protein intolerance ISO RGD:1317010 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11935451 CTSG cathepsin G gene DOID:630 genetic disease ISO RGD:1317010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935451 CTSG cathepsin G gene DOID:9000265 Specific Granule Deficiency ISO RGD:1317010 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11935451 CTSG cathepsin G gene DOID:9004009 Reperfusion Injury ISO RGD:1317011 D RGD:9068941 20200609 RGD PMID:17322378|REF_RGD_ID:7242055 11935451 CTSG cathepsin G gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1317010 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11935465 PRODH proline dehydrogenase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1343717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11935465 PRODH proline dehydrogenase 1 gene DOID:0070080 schizophrenia 4 ISO RGD:1343717 D RGD:7240710 20230517 OMIM 11935465 PRODH proline dehydrogenase 1 gene DOID:0070080 schizophrenia 4 ISO RGD:1343717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Schizophrenia 4 PMID:11510941|PMID:11891283|PMID:12217952|PMID:15449943|PMID:15494707|PMID:15662599|PMID:17412540|PMID:20524212|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28708303 11935465 PRODH proline dehydrogenase 1 gene DOID:0080542 hyperprolinemia type 1 ISO RGD:1343717 D RGD:7240710 20230517 OMIM 11935465 PRODH proline dehydrogenase 1 gene DOID:0080542 hyperprolinemia type 1 ISO RGD:1343717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proline dehydrogenase deficiency PMID:11510941|PMID:11891283|PMID:12217952|PMID:12525555|PMID:15449943|PMID:15494707|PMID:15662599|PMID:16199547|PMID:17412540|PMID:17576681|PMID:19736351|PMID:20524212|PMID:24033266|PMID:25312060|PMID:25741868|PMID:26978485|PMID:28492532|PMID:28708303|PMID:9536098 11935465 PRODH proline dehydrogenase 1 gene DOID:0111996 immunodeficiency 51 ISO RGD:1343717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11935465 PRODH proline dehydrogenase 1 gene DOID:1059 intellectual disability ISO RGD:1343717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11935465 PRODH proline dehydrogenase 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1343717 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 11935465 PRODH proline dehydrogenase 1 gene DOID:11372 megacolon ISO RGD:1343717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11935465 PRODH proline dehydrogenase 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:1343717 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome 11935465 PRODH proline dehydrogenase 1 gene DOID:12849 autistic disorder ISO RGD:1343717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11935465 PRODH proline dehydrogenase 1 gene DOID:1826 epilepsy ISO RGD:1343717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11935465 PRODH proline dehydrogenase 1 gene DOID:5419 schizophrenia ISO RGD:1343717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11935465 PRODH proline dehydrogenase 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1343717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11935465 PRODH proline dehydrogenase 1 gene DOID:630 genetic disease ISO RGD:1343717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11510941|PMID:12217952|PMID:15449943|PMID:15494707|PMID:15662599|PMID:17412540|PMID:20524212|PMID:25741868|PMID:28492532 11935465 PRODH proline dehydrogenase 1 gene DOID:863 nervous system disease ISO RGD:1343717 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17412540 11935465 PRODH proline dehydrogenase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343717 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11935465 PRODH proline dehydrogenase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11935465 PRODH proline dehydrogenase 1 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1343717 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11935465 PRODH proline dehydrogenase 1 gene DOID:9252 amino acid metabolic disorder ISO RGD:1343717 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17412540 11935465 PRODH proline dehydrogenase 1 gene DOID:9252 amino acid metabolic disorder ISO RGD:1343717 D RGD:9068941 20200609 RGD PMID:12217952|REF_RGD_ID:1599206 11935497 PAK3 p21 (RAC1) activated kinase 3 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:731864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability 11935497 PAK3 p21 (RAC1) activated kinase 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11935497 PAK3 p21 (RAC1) activated kinase 3 gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:731864 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 PMID:28492532 11935497 PAK3 p21 (RAC1) activated kinase 3 gene DOID:0112051 non-syndromic X-linked intellectual disability 30 ISO RGD:731864 D RGD:7240710 20180130 OMIM 11935497 PAK3 p21 (RAC1) activated kinase 3 gene DOID:0112051 non-syndromic X-linked intellectual disability 30 ISO RGD:731864 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 30 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 47 PMID:10946356|PMID:12884430|PMID:17853471|PMID:18523455|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31843706|PMID:32050918|PMID:8826460|PMID:9332663|PMID:9731525 11935497 PAK3 p21 (RAC1) activated kinase 3 gene DOID:1059 intellectual disability ISO RGD:731864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18523455|PMID:25741868 11935497 PAK3 p21 (RAC1) activated kinase 3 gene DOID:10907 microcephaly ISO RGD:731864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 11935497 PAK3 p21 (RAC1) activated kinase 3 gene DOID:12849 autistic disorder ISO RGD:731864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11935497 PAK3 p21 (RAC1) activated kinase 3 gene DOID:5419 schizophrenia ISO RGD:731864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11935497 PAK3 p21 (RAC1) activated kinase 3 gene DOID:630 genetic disease ISO RGD:731864 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24556213|PMID:25741868|PMID:26467025|PMID:28492532 11935497 PAK3 p21 (RAC1) activated kinase 3 gene DOID:8466 retinal degeneration ISO RGD:736155 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina PMID:16505058|REF_RGD_ID:7775028 11935535 LOC100988443 zinc finger protein 823 gene DOID:0050990 episodic ataxia type 2 ISO RGD:2307387 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11935535 LOC100988443 zinc finger protein 823 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:2307387 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11935535 LOC100988443 zinc finger protein 823 gene DOID:0111254 glutaric acidemia I ISO RGD:2307387 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11935535 LOC100988443 zinc finger protein 823 gene DOID:3413 alpha-mannosidosis ISO RGD:2307387 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11935535 LOC100988443 zinc finger protein 823 gene DOID:630 genetic disease ISO RGD:2307387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935548 TMEM230 transmembrane protein 230 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1316576 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11935548 TMEM230 transmembrane protein 230 gene DOID:10283 prostate cancer ISO RGD:1316576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11935548 TMEM230 transmembrane protein 230 gene DOID:14330 Parkinson's disease ISO RGD:1316576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27270108 11935548 TMEM230 transmembrane protein 230 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1316576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11935548 TMEM230 transmembrane protein 230 gene DOID:630 genetic disease ISO RGD:1316576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935563 IL19 interleukin 19 gene DOID:0050589 inflammatory bowel disease ISO RGD:1315107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:11121048|PMID:14657422|PMID:14657427|PMID:17576681|PMID:25741868|PMID:26193622|PMID:28492532|PMID:9536098 11935563 IL19 interleukin 19 gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1315107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 11935563 IL19 interleukin 19 gene DOID:0081267 graft-versus-host disease ISO RGD:1315107 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Graft-versus-host disease, resistance to | ClinVar Annotator: match by term: Graft-versus-host disease, susceptibility to PMID:11121048|PMID:14657422|PMID:14657427|PMID:25741868|PMID:28492532 11935563 IL19 interleukin 19 gene DOID:1024 leprosy ISO RGD:1315107 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 PMID:28492532 11935563 IL19 interleukin 19 gene DOID:12849 autistic disorder ISO RGD:1315107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11935563 IL19 interleukin 19 gene DOID:14115 toxic shock syndrome ISO RGD:1315107 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18246602|REF_RGD_ID:5037232 11935563 IL19 interleukin 19 gene DOID:14115 toxic shock syndrome ISO RGD:1315108 D RGD:9068941 20200609 RGD PMID:18246602|REF_RGD_ID:5037232 11935563 IL19 interleukin 19 gene DOID:1540 parathyroid carcinoma ISO RGD:1315107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11935563 IL19 interleukin 19 gene DOID:2841 asthma ISO RGD:1315107 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15557163|REF_RGD_ID:5037236 11935563 IL19 interleukin 19 gene DOID:2841 asthma ISO RGD:1315108 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung, serum PMID:15557163|REF_RGD_ID:5037236 11935563 IL19 interleukin 19 gene DOID:3388 periodontal disease ISO RGD:1583546 D RGD:9068941 20200609 RGD mRNA:increased expression:B cell PMID:20618701|REF_RGD_ID:5024938 11935563 IL19 interleukin 19 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1315107 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:11121048|PMID:14657422|PMID:14657427|PMID:25741868|PMID:28492532 11935563 IL19 interleukin 19 gene DOID:630 genetic disease ISO RGD:1315107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11935563 IL19 interleukin 19 gene DOID:7148 rheumatoid arthritis ISO RGD:1315107 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Rheumatoid arthritis, progression of PMID:12847677|PMID:25741868|PMID:28492532 11935563 IL19 interleukin 19 gene DOID:784 chronic kidney disease ISO RGD:1315107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24714768 11935563 IL19 interleukin 19 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1315107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18006695 11935563 IL19 interleukin 19 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1315107 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11935563 IL19 interleukin 19 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11935563 IL19 interleukin 19 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1315107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19430480 11935577 SLC39A11 solute carrier family 39 member 11 gene DOID:0080600 COVID-19 ISO RGD:1323721 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11935577 SLC39A11 solute carrier family 39 member 11 gene DOID:3070 high grade glioma ISO RGD:1323721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11935577 SLC39A11 solute carrier family 39 member 11 gene DOID:630 genetic disease ISO RGD:1323721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935602 CACNG6 calcium voltage-gated channel auxiliary subunit gamma 6 gene DOID:0080822 aspirin-induced respiratory disease susceptibility ISO RGD:735845 D RGD:9068941 20200609 RGD DNA:SNP,haplotype:rs192808(human) PMID:20860846|REF_RGD_ID:13524562 11935602 CACNG6 calcium voltage-gated channel auxiliary subunit gamma 6 gene DOID:630 genetic disease ISO RGD:735845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935610 RNF168 ring finger protein 168 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1347950 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 11935610 RNF168 ring finger protein 168 gene DOID:0090113 Riddle syndrome ISO RGD:1347950 D RGD:7240710 20180130 OMIM 11935610 RNF168 ring finger protein 168 gene DOID:0090113 Riddle syndrome ISO RGD:1347950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RIDDLE syndrome PMID:19203578|PMID:21394101|PMID:24033266|PMID:25741868|PMID:28492532 11935610 RNF168 ring finger protein 168 gene DOID:12849 autistic disorder ISO RGD:1347950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11935610 RNF168 ring finger protein 168 gene DOID:1749 squamous cell carcinoma ISO RGD:1347950 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34873829 11935610 RNF168 ring finger protein 168 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1347950 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34873829 11935610 RNF168 ring finger protein 168 gene DOID:5419 schizophrenia ISO RGD:1347950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11935610 RNF168 ring finger protein 168 gene DOID:630 genetic disease ISO RGD:1347950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11935610 RNF168 ring finger protein 168 gene DOID:9000918 Disease Progression ISO RGD:1347950 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34873829 11935621 RXRB retinoid X receptor beta gene DOID:0050553 JMP syndrome ISO RGD:735628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11935621 RXRB retinoid X receptor beta gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:735628 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 11935621 RXRB retinoid X receptor beta gene DOID:630 genetic disease ISO RGD:735628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935621 RXRB retinoid X receptor beta gene DOID:9000217 Stomach Neoplasms ISO RGD:735628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11935621 RXRB retinoid X receptor beta gene DOID:9000918 Disease Progression ISO RGD:735628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11935621 RXRB retinoid X receptor beta gene DOID:9008939 Breast Neoplasms ISO RGD:735628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22322885 11935637 ANLN anillin, actin binding protein gene DOID:0080600 COVID-19 ISO RGD:1320339 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11935637 ANLN anillin, actin binding protein gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:1320339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 PMID:28492532 11935637 ANLN anillin, actin binding protein gene DOID:0111133 focal segmental glomerulosclerosis 8 ISO RGD:1320339 D RGD:7240710 20180130 OMIM 11935637 ANLN anillin, actin binding protein gene DOID:0111133 focal segmental glomerulosclerosis 8 ISO RGD:1320339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8 PMID:24676636|PMID:25741868|PMID:28492532|PMID:29869118 11935637 ANLN anillin, actin binding protein gene DOID:11612 polycystic ovary syndrome ISO RGD:1320339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11935637 ANLN anillin, actin binding protein gene DOID:1184 nephrotic syndrome ISO RGD:1320339 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:28492532 11935637 ANLN anillin, actin binding protein gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1320339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11935637 ANLN anillin, actin binding protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11935637 ANLN anillin, actin binding protein gene DOID:630 genetic disease ISO RGD:1320339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11935637 ANLN anillin, actin binding protein gene DOID:684 hepatocellular carcinoma ISO RGD:1320339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11935637 ANLN anillin, actin binding protein gene DOID:784 chronic kidney disease ISO RGD:1320339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 11935673 ZNF500 zinc finger protein 500 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1314930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11935673 ZNF500 zinc finger protein 500 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1314930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 11935673 ZNF500 zinc finger protein 500 gene DOID:1826 epilepsy ISO RGD:1314930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11935673 ZNF500 zinc finger protein 500 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1314930 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11935673 ZNF500 zinc finger protein 500 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1314930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 11935673 ZNF500 zinc finger protein 500 gene DOID:630 genetic disease ISO RGD:1314930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935687 MAFB MAF bZIP transcription factor B gene DOID:0080600 COVID-19 ISO RGD:732545 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11935687 MAFB MAF bZIP transcription factor B gene DOID:0111534 multicentric carpotarsal osteolysis syndrome ISO RGD:732545 D RGD:7240710 20180130 OMIM 11935687 MAFB MAF bZIP transcription factor B gene DOID:0111534 multicentric carpotarsal osteolysis syndrome ISO RGD:732545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multicentric carpo-tarsal osteolysis with or without nephropathy PMID:20436469|PMID:22387013|PMID:24989131|PMID:25741868|PMID:28166811|PMID:28492532|PMID:30208859 11935687 MAFB MAF bZIP transcription factor B gene DOID:12557 Duane retraction syndrome ISO RGD:732545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11935687 MAFB MAF bZIP transcription factor B gene DOID:12557 Duane retraction syndrome ISO RGD:732546 D RGD:9068941 20220825 MouseDO OMIM:126800 | OMIM:604356 11935687 MAFB MAF bZIP transcription factor B gene DOID:2234 focal epilepsy ISO RGD:732545 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11935687 MAFB MAF bZIP transcription factor B gene DOID:630 genetic disease ISO RGD:732545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22387013|PMID:24989131|PMID:25741868|PMID:28492532 11935687 MAFB MAF bZIP transcription factor B gene DOID:9004102 Duane Retraction Syndrome 1 ISO RGD:732545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Duane syndrome type 1 PMID:27181683 11935687 MAFB MAF bZIP transcription factor B gene DOID:9005360 Duane Retraction Syndrome 3 ISO RGD:732545 D RGD:7240710 20200304 OMIM 11935687 MAFB MAF bZIP transcription factor B gene DOID:9005360 Duane Retraction Syndrome 3 ISO RGD:732545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Duane retraction syndrome 3 with or without deafness PMID:27181683 11935687 MAFB MAF bZIP transcription factor B gene DOID:9296 cleft lip ISO RGD:732545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20436469 11935692 LOC100994157 histone H2AX gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1346464 D RGD:9068941 20210820 RGD protein:increased expression:mucosa of oral region (human) PMID:29928356|REF_RGD_ID:150340604 11935692 LOC100994157 histone H2AX gene DOID:0060017 CD3epsilon deficiency ISO RGD:1346464 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11935692 LOC100994157 histone H2AX gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1346464 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11935692 LOC100994157 histone H2AX gene DOID:0080690 RASopathy ISO RGD:1346464 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11935692 LOC100994157 histone H2AX gene DOID:0081330 glycogen storage disease Ib ISO RGD:1346464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 11935692 LOC100994157 histone H2AX gene DOID:0110651 long QT syndrome 10 ISO RGD:1346464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11935692 LOC100994157 histone H2AX gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1346464 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11935692 LOC100994157 histone H2AX gene DOID:0111971 immunodeficiency 18 ISO RGD:1346464 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11935692 LOC100994157 histone H2AX gene DOID:0111972 immunodeficiency 19 ISO RGD:1346464 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11935692 LOC100994157 histone H2AX gene DOID:0111973 immunodeficiency 17 ISO RGD:1346464 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11935692 LOC100994157 histone H2AX gene DOID:10763 hypertension treatment ISO RGD:1566119 D RGD:9068941 20200609 RGD PMID:24239235|REF_RGD_ID:8693672 11935692 LOC100994157 histone H2AX gene DOID:1824 status epilepticus ISO RGD:1566119 D RGD:9068941 20200609 RGD protein:increased phosphorylation:brain PMID:21613478|REF_RGD_ID:8693708 11935692 LOC100994157 histone H2AX gene DOID:224 transient cerebral ischemia treatment ISO RGD:1566119 D RGD:9068941 20200609 RGD PMID:20830300|REF_RGD_ID:8693742 11935692 LOC100994157 histone H2AX gene DOID:3068 glioblastoma ISO RGD:1346464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26651356 11935692 LOC100994157 histone H2AX gene DOID:5419 schizophrenia ISO RGD:1346464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11935692 LOC100994157 histone H2AX gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:1566119 D RGD:9068941 20200609 RGD PMID:23792534|REF_RGD_ID:8693718 11935692 LOC100994157 histone H2AX gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1346464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11935692 LOC100994157 histone H2AX gene DOID:9004203 Chromosome Breakage ISO RGD:1346464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26231820 11935692 LOC100994157 histone H2AX gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1346464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 11935692 LOC100994157 histone H2AX gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:1558155 D RGD:9068941 20200609 RGD PMID:22384017|REF_RGD_ID:7240549 11935692 LOC100994157 histone H2AX gene DOID:9005779 Polyploidy ISO RGD:1346464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25123929 11935692 LOC100994157 histone H2AX gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:1566119 D RGD:9068941 20200609 RGD PMID:23726287|REF_RGD_ID:8693706 11935692 LOC100994157 histone H2AX gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1346464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26651356 11935692 LOC100994157 histone H2AX gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:1566119 D RGD:9068941 20200609 RGD PMID:23265463|REF_RGD_ID:8693741 11935692 LOC100994157 histone H2AX gene DOID:9007661 Dwarfism ISO RGD:1346464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11935692 LOC100994157 histone H2AX gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:1566119 D RGD:9068941 20200609 RGD PMID:23108649|REF_RGD_ID:8693739 11935692 LOC100994157 histone H2AX gene DOID:9008939 Breast Neoplasms ISO RGD:1346464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433|PMID:21463514 11935692 LOC100994157 histone H2AX gene DOID:916 liver benign neoplasm treatment ISO RGD:1566119 D RGD:9068941 20200609 RGD PMID:23474136|REF_RGD_ID:8693737 11935692 LOC100994157 histone H2AX gene DOID:9655 oral mucosa leukoplakia disease_progression ISO RGD:1346464 D RGD:9068941 20210820 RGD protein:increased expression:mucosa of oral region (human) PMID:29928356|REF_RGD_ID:150340604 11935696 CYTH4 cytohesin 4 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1345777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11935696 CYTH4 cytohesin 4 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1345777 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11935696 CYTH4 cytohesin 4 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1345777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11935696 CYTH4 cytohesin 4 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1345777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11935696 CYTH4 cytohesin 4 gene DOID:630 genetic disease ISO RGD:1345777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935713 C2BH2orf72 chromosome 2B C2orf72 homolog gene DOID:0060476 Perlman syndrome ISO RGD:2298740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11935713 C2BH2orf72 chromosome 2B C2orf72 homolog gene DOID:0110991 Joubert syndrome 22 ISO RGD:2298740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11935713 C2BH2orf72 chromosome 2B C2orf72 homolog gene DOID:630 genetic disease ISO RGD:2298740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935720 ORMDL2 ORMDL sphingolipid biosynthesis regulator 2 gene DOID:630 genetic disease ISO RGD:1313791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935781 FBXL14 F-box and leucine rich repeat protein 14 gene DOID:630 genetic disease ISO RGD:1313599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935781 FBXL14 F-box and leucine rich repeat protein 14 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1313599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11935788 EOLA2 endothelium and lymphocyte associated ASCH domain 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11935788 EOLA2 endothelium and lymphocyte associated ASCH domain 2 gene DOID:12849 autistic disorder ISO RGD:1604879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11935820 ZNF282 zinc finger protein 282 gene DOID:630 genetic disease ISO RGD:1314806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935833 DSCC1 DNA replication and sister chromatid cohesion 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1604296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11935833 DSCC1 DNA replication and sister chromatid cohesion 1 gene DOID:630 genetic disease ISO RGD:1604296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935858 CWC15 CWC15 spliceosome associated protein homolog gene DOID:1059 intellectual disability ISO RGD:1604821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11935858 CWC15 CWC15 spliceosome associated protein homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1604821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11935877 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1347522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 11935877 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:0080436 developmental and epileptic encephalopathy 4 ISO RGD:1347522 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4 PMID:25741868 11935877 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1347522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11935877 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1347522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11935877 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:12849 autistic disorder ISO RGD:1347522 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 11935877 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:1826 epilepsy ISO RGD:1347522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:28492532 11935877 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1347522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11935877 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:630 genetic disease ISO RGD:1347522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30612693|PMID:30945334 11935877 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:9004009 Reperfusion Injury ISO RGD:1563691 D RGD:9068941 20200609 RGD protein:increased activity:hippocampus PMID:16805806|REF_RGD_ID:2293339 11935877 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347522 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30612693|PMID:30945334 11935877 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:9005897 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES ISO RGD:1347522 D RGD:7240710 20190918 OMIM 11935877 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:9005897 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES ISO RGD:1347522 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES PMID:25741868|PMID:30612693|PMID:30945334 11935877 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1347522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11935877 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:9008582 Developmental Disease ISO RGD:1347522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11935913 ISLR2 immunoglobulin superfamily containing leucine rich repeat 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605977 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11935913 ISLR2 immunoglobulin superfamily containing leucine rich repeat 2 gene DOID:2717 Bloom syndrome ISO RGD:1605977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11935913 ISLR2 immunoglobulin superfamily containing leucine rich repeat 2 gene DOID:5419 schizophrenia ISO RGD:1605977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11935913 ISLR2 immunoglobulin superfamily containing leucine rich repeat 2 gene DOID:630 genetic disease ISO RGD:1605977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935913 ISLR2 immunoglobulin superfamily containing leucine rich repeat 2 gene DOID:9256 colorectal cancer ISO RGD:1605977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11935933 RTN1 reticulon 1 gene DOID:630 genetic disease ISO RGD:732399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935933 RTN1 reticulon 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:732399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11935949 MYL5 myosin light chain 5 gene DOID:0110375 retinitis pigmentosa 40 ISO RGD:1354290 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 40 11935949 MYL5 myosin light chain 5 gene DOID:1856 cherubism ISO RGD:1354290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11935949 MYL5 myosin light chain 5 gene DOID:630 genetic disease ISO RGD:1354290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935949 MYL5 myosin light chain 5 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1354290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 11935970 CDC20B cell division cycle 20B gene DOID:630 genetic disease ISO RGD:1602643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11935970 CDC20B cell division cycle 20B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11935989 AMDHD1 amidohydrolase domain containing 1 gene DOID:630 genetic disease ISO RGD:1603900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11936002 LOC100989678 histone H2A type 1 gene DOID:9538 multiple myeloma ISO RGD:1323073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11936007 SOD3 superoxide dismutase 3 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:736515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 11936007 SOD3 superoxide dismutase 3 gene DOID:10763 hypertension ISO RGD:11331 D RGD:9068941 20200609 RGD PMID:16864745|REF_RGD_ID:1581232 11936007 SOD3 superoxide dismutase 3 gene DOID:10763 hypertension ISO RGD:3733 D RGD:9068941 20200609 RGD PMID:12600899|REF_RGD_ID:1580845 11936007 SOD3 superoxide dismutase 3 gene DOID:10763 hypertension ISO RGD:736515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16864745|PMID:17023265 11936007 SOD3 superoxide dismutase 3 gene DOID:114 heart disease ISO RGD:736515 D RGD:9068941 20200609 RGD PMID:16014615|PMID:16840738|REF_RGD_ID:1579965|REF_RGD_ID:1580843 11936007 SOD3 superoxide dismutase 3 gene DOID:1389 polyneuropathy ISO RGD:736515 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:polymorphism:exon:p.R213G (human) PMID:12815947|REF_RGD_ID:1581254 11936007 SOD3 superoxide dismutase 3 gene DOID:2316 brain ischemia ISO RGD:11331 D RGD:9068941 20200609 RGD PMID:10833313|REF_RGD_ID:1580852 11936007 SOD3 superoxide dismutase 3 gene DOID:2773 contact dermatitis ISO RGD:736515 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17392825 11936007 SOD3 superoxide dismutase 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16399992|PMID:16467073 11936007 SOD3 superoxide dismutase 3 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:736515 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R213G (human) PMID:16399992|REF_RGD_ID:1581270 11936007 SOD3 superoxide dismutase 3 gene DOID:3393 coronary artery disease ISO RGD:736515 D RGD:9068941 20200609 RGD PMID:10811593|REF_RGD_ID:1580853 11936007 SOD3 superoxide dismutase 3 gene DOID:3770 pulmonary fibrosis ISO RGD:736515 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15298984 11936007 SOD3 superoxide dismutase 3 gene DOID:552 pneumonia ISO RGD:736515 D RGD:9068941 20200609 RGD PMID:16842247|REF_RGD_ID:1581268 11936007 SOD3 superoxide dismutase 3 gene DOID:5844 myocardial infarction ISO RGD:736515 D RGD:9068941 20200609 RGD PMID:14592844|REF_RGD_ID:1580841 11936007 SOD3 superoxide dismutase 3 gene DOID:6000 congestive heart failure ISO RGD:736515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20304815 11936007 SOD3 superoxide dismutase 3 gene DOID:630 genetic disease ISO RGD:736515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11936007 SOD3 superoxide dismutase 3 gene DOID:8618 oral cavity cancer ISO RGD:736515 D RGD:9068941 20200609 RGD PMID:23057317|REF_RGD_ID:14700938 11936007 SOD3 superoxide dismutase 3 gene DOID:8805 intermediate coronary syndrome ISO RGD:736515 D RGD:9068941 20200609 RGD PMID:14592844|REF_RGD_ID:1580841 11936007 SOD3 superoxide dismutase 3 gene DOID:8947 diabetic retinopathy ISO RGD:736515 D RGD:9068941 20200609 RGD PMID:12663605|REF_RGD_ID:1581298 11936007 SOD3 superoxide dismutase 3 gene DOID:9000784 Fibrosis ISO RGD:11331 D RGD:9068941 20200609 RGD PMID:11880297|REF_RGD_ID:1581266 11936007 SOD3 superoxide dismutase 3 gene DOID:9000784 Fibrosis ISO RGD:736515 D RGD:9068941 20200609 RGD PMID:11880297|REF_RGD_ID:1581266 11936007 SOD3 superoxide dismutase 3 gene DOID:9000918 Disease Progression ISO RGD:736515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 11936007 SOD3 superoxide dismutase 3 gene DOID:9001472 Nasal Polyps ISO RGD:736515 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:middle nasal turbinate, lamella (human) PMID:16540901|REF_RGD_ID:1581230 11936007 SOD3 superoxide dismutase 3 gene DOID:9001820 Pulmonary Arterial Hypertension exacerbates ISO XCO:0000642 D RGD:9068941 20220128 RGD PMID:21730301|REF_RGD_ID:14369425 11936007 SOD3 superoxide dismutase 3 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:736515 D RGD:9068941 20200609 RGD human gene in a rat model PMID:11779401|REF_RGD_ID:1581095 11936007 SOD3 superoxide dismutase 3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:11331 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:19470681|REF_RGD_ID:2312361 11936007 SOD3 superoxide dismutase 3 gene DOID:9002669 Hypoxia ISO RGD:11331 D RGD:9068941 20200609 RGD PMID:15375030|REF_RGD_ID:1581265 11936007 SOD3 superoxide dismutase 3 gene DOID:9004009 Reperfusion Injury ISO RGD:11331 D RGD:9068941 20200609 RGD PMID:15778274|REF_RGD_ID:1581264 11936007 SOD3 superoxide dismutase 3 gene DOID:9004484 Sepsis ISO RGD:3733 D RGD:9068941 20200609 RGD PMID:26266917|REF_RGD_ID:11035300 11936007 SOD3 superoxide dismutase 3 gene DOID:9005749 Necrosis ISO RGD:736515 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11529661 11936007 SOD3 superoxide dismutase 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:736515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Superoxide dismutase, elevated extracellular PMID:14662715|PMID:7662997|PMID:8034674 11936007 SOD3 superoxide dismutase 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736515 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11529661 11936007 SOD3 superoxide dismutase 3 gene DOID:9007480 Hyperoxia ISO RGD:736515 D RGD:9068941 20200609 RGD PMID:16100289|REF_RGD_ID:1581277 11936007 SOD3 superoxide dismutase 3 gene DOID:9007692 Insulin Resistance ISO RGD:736515 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma PMID:15171689|REF_RGD_ID:1625698 11936007 SOD3 superoxide dismutase 3 gene DOID:9351 diabetes mellitus ISO RGD:736515 D RGD:9068941 20200609 RGD PMID:12830380|REF_RGD_ID:1581299 11936007 SOD3 superoxide dismutase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736515 D RGD:9068941 20200609 RGD PMID:15990193|REF_RGD_ID:1581225 11936016 ATP6V0D2 ATPase H+ transporting V0 subunit d2 gene DOID:5119 ovarian cyst ISO RGD:1315777 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 11936016 ATP6V0D2 ATPase H+ transporting V0 subunit d2 gene DOID:630 genetic disease ISO RGD:1315777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11936016 ATP6V0D2 ATPase H+ transporting V0 subunit d2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1315777 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25279216 11936028 SLC28A3 solute carrier family 28 member 3 gene DOID:630 genetic disease ISO RGD:731872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11936028 SLC28A3 solute carrier family 28 member 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621224 D RGD:9068941 20200609 RGD PMID:16014043|REF_RGD_ID:2317455 11936069 PUS7L pseudouridine synthase 7 like gene DOID:630 genetic disease ISO RGD:1606495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11936102 POLR1B RNA polymerase I subunit B gene DOID:0080792 Treacher Collins syndrome 4 ISO RGD:1348858 D RGD:7240710 20200722 OMIM 11936102 POLR1B RNA polymerase I subunit B gene DOID:0080792 Treacher Collins syndrome 4 ISO RGD:1348858 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Treacher Collins syndrome 4 PMID:25741868|PMID:31649276 11936102 POLR1B RNA polymerase I subunit B gene DOID:630 genetic disease ISO RGD:1348858 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11936121 PIK3R4 phosphoinositide-3-kinase regulatory subunit 4 gene DOID:0111947 immunodeficiency 21 ISO RGD:1323457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 11936121 PIK3R4 phosphoinositide-3-kinase regulatory subunit 4 gene DOID:630 genetic disease ISO RGD:1323457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11936121 PIK3R4 phosphoinositide-3-kinase regulatory subunit 4 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1323457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868|PMID:28492532 11936121 PIK3R4 phosphoinositide-3-kinase regulatory subunit 4 gene DOID:9270 alkaptonuria ISO RGD:1323457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11936147 TIMM23 translocase of inner mitochondrial membrane 23 gene DOID:11372 megacolon ISO RGD:732380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11936147 TIMM23 translocase of inner mitochondrial membrane 23 gene DOID:630 genetic disease ISO RGD:732380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11936147 TIMM23 translocase of inner mitochondrial membrane 23 gene DOID:767 muscular atrophy ISO RGD:3863 D RGD:9068941 20200611 RGD PMID:20943961|REF_RGD_ID:13463487 11936151 TTLL7 tubulin tyrosine ligase like 7 gene DOID:630 genetic disease ISO RGD:1605943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11936190 ZNF706 zinc finger protein 706 gene DOID:0111590 Cohen syndrome ISO RGD:1602889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 11936210 BBS1 Bardet-Biedl syndrome 1 gene DOID:0050439 Usher syndrome ISO RGD:1316858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:15314642|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20301537|PMID:20498079|PMID:21052717|PMID:21642631|PMID:22581970|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:28041643|PMID:28492532|PMID:29264490|PMID:30614526|PMID:30718709|PMID:33532864 11936210 BBS1 Bardet-Biedl syndrome 1 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1316858 D RGD:7240710 20180130 OMIM 11936210 BBS1 Bardet-Biedl syndrome 1 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1316858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:10564830|PMID:12118255|PMID:12524598|PMID:12567324|PMID:12677556|PMID:12837689|PMID:12872256|PMID:12920096|PMID:15314642|PMID:15666242|PMID:15770229|PMID:16199547|PMID:16327777|PMID:16582908|PMID:16877420|PMID:17003356|PMID:17065520|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18327255|PMID:18669544|PMID:18766993|PMID:19797195|PMID:19858128|PMID:20120035|PMID:20177705|PMID:20301537|PMID:20472660|PMID:20498079|PMID:20876674|PMID:21052717|PMID:21258341|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22353939|PMID:22410627|PMID:22581970|PMID:22773737|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23432027|PMID:23559858|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24400638|PMID:24746959|PMID:25074776|PMID:25170860|PMID:25326635|PMID:25741868|PMID:25780760|PMID:25982971|PMID:25988237|PMID:26261414|PMID:26467025|PMID:26518167|PMID:26566502|PMID:26872967|PMID:27032803|PMID:27434533|PMID:27624628|PMID:27659767|PMID:27788217|PMID:27884173|PMID:27894351|PMID:28041643|PMID:28143435|PMID:28224992|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29191167|PMID:29264490|PMID:29588463|PMID:30076350|PMID:30259503|PMID:30484961|PMID:30614526|PMID:30718709|PMID:31130284|PMID:31534736|PMID:31836858|PMID:32037395|PMID:32165824|PMID:32349990|PMID:32451492|PMID:33532864|PMID:33594065|PMID:34526762|PMID:9536098 11936210 BBS1 Bardet-Biedl syndrome 1 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:1316858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:22219654|PMID:28492532 11936210 BBS1 Bardet-Biedl syndrome 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1316858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:15314642|PMID:15770229|PMID:16327777|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20120035|PMID:20177705|PMID:20301537|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22773737|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24746959|PMID:25326635|PMID:25741868|PMID:26261414|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:27788217|PMID:28041643|PMID:28143435|PMID:28492532|PMID:29264490|PMID:29588463|PMID:30614526|PMID:30718709|PMID:33532864|PMID:34526762|PMID:9536098 11936210 BBS1 Bardet-Biedl syndrome 1 gene DOID:1059 intellectual disability ISO RGD:1316858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11936210 BBS1 Bardet-Biedl syndrome 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1316858 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:10564830|PMID:12118255|PMID:12524598|PMID:12567324|PMID:12677556|PMID:12837689|PMID:12872256|PMID:12920096|PMID:15314642|PMID:15666242|PMID:15770229|PMID:16199547|PMID:16327777|PMID:16786513|PMID:16877420|PMID:17003356|PMID:17065520|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18327255|PMID:18669544|PMID:18766993|PMID:19797195|PMID:19858128|PMID:20120035|PMID:20177705|PMID:20301537|PMID:20472660|PMID:20498079|PMID:20876674|PMID:21052717|PMID:21209035|PMID:21258341|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22773737|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23432027|PMID:23559858|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24400638|PMID:24611592|PMID:24746959|PMID:25074776|PMID:25170860|PMID:25326635|PMID:25640679|PMID:25741868|PMID:25780760|PMID:25982971|PMID:25988237|PMID:26261414|PMID:26467025|PMID:26518167|PMID:26872967|PMID:27032803|PMID:27434533|PMID:27486776|PMID:27624628|PMID:27659767|PMID:27788217|PMID:27884173|PMID:27894351|PMID:28041643|PMID:28143435|PMID:28224992|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28991257|PMID:29099798|PMID:29191167|PMID:29264490|PMID:29588463|PMID:30076350|PMID:30259503|PMID:30614526|PMID:30718709|PMID:31130284|PMID:31196119|PMID:31534736|PMID:31836858|PMID:31997113|PMID:32037395|PMID:32165824|PMID:32349990|PMID:32451492|PMID:32552793|PMID:33169370|PMID:33532864|PMID:33594065|PMID:34526762|PMID:35886001|PMID:8316268|PMID:9536098 11936210 BBS1 Bardet-Biedl syndrome 1 gene DOID:2018 hyperinsulinism ISO RGD:1316859 D RGD:9068941 20230420 RGD PMID:33722691|REF_RGD_ID:243065268 11936210 BBS1 Bardet-Biedl syndrome 1 gene DOID:2746 glycogen storage disease V ISO RGD:1316858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11936210 BBS1 Bardet-Biedl syndrome 1 gene DOID:630 genetic disease ISO RGD:1316858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:15314642|PMID:15770229|PMID:16327777|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20177705|PMID:20301537|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24746959|PMID:25074776|PMID:25326635|PMID:25741868|PMID:25988237|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:27788217|PMID:28041643|PMID:28341476|PMID:28492532|PMID:29264490|PMID:29588463|PMID:30614526|PMID:30718709|PMID:32349990|PMID:33532864|PMID:33594065|PMID:34526762|PMID:9536098 11936210 BBS1 Bardet-Biedl syndrome 1 gene DOID:8501 fundus dystrophy ISO RGD:1316858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:12920096|PMID:15314642|PMID:15770229|PMID:16199547|PMID:17065520|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20120035|PMID:20177705|PMID:20301537|PMID:20472660|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21520335|PMID:21642631|PMID:22581970|PMID:22773737|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:25326635|PMID:25741868|PMID:25780760|PMID:26261414|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29264490|PMID:30614526|PMID:30718709|PMID:33532864|PMID:9536098 11936210 BBS1 Bardet-Biedl syndrome 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1316858 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11936210 BBS1 Bardet-Biedl syndrome 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1316858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11936210 BBS1 Bardet-Biedl syndrome 1 gene DOID:9970 obesity ISO RGD:1316859 D RGD:9068941 20220825 MouseDO OMIM:601665 11936210 BBS1 Bardet-Biedl syndrome 1 gene DOID:9970 obesity ISO RGD:1316859 D RGD:9068941 20230420 RGD PMID:33722691|REF_RGD_ID:243065268 11936210 BBS1 Bardet-Biedl syndrome 1 gene DOID:9970 obesity no_association ISO RGD:1316858 D RGD:9068941 20200609 RGD DNA:mutation: :p.M390R (human) PMID:14993910|REF_RGD_ID:1601314 11936239 PCDH10 protocadherin 10 gene DOID:12849 autistic disorder ISO RGD:1348202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18621663 11936239 PCDH10 protocadherin 10 gene DOID:630 genetic disease ISO RGD:1348202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11936248 CTBS chitobiase gene DOID:630 genetic disease ISO RGD:1351227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11936259 LOC100972878 cytochrome c oxidase subunit 5B, mitochondrial gene DOID:10763 hypertension ISO RGD:620608 D RGD:9068941 20200609 RGD protein:decreased expression:heart left ventricle PMID:16132109|REF_RGD_ID:2301377 11936259 LOC100972878 cytochrome c oxidase subunit 5B, mitochondrial gene DOID:630 genetic disease ISO RGD:734145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11936259 LOC100972878 cytochrome c oxidase subunit 5B, mitochondrial gene DOID:9003936 Cardiomegaly ISO RGD:620608 D RGD:9068941 20200609 RGD associated with Hypertension PMID:16132109|REF_RGD_ID:2301377 11936259 LOC100972878 cytochrome c oxidase subunit 5B, mitochondrial gene DOID:9007102 Myocardial Ischemia ISO RGD:734145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11936269 ENHO energy homeostasis associated gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1603336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11936269 ENHO energy homeostasis associated gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1603336 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11936269 ENHO energy homeostasis associated gene DOID:0080942 anauxetic dysplasia ISO RGD:1603336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11936269 ENHO energy homeostasis associated gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1603336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11936269 ENHO energy homeostasis associated gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1603336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11936269 ENHO energy homeostasis associated gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1603336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11936269 ENHO energy homeostasis associated gene DOID:9562 primary ciliary dyskinesia ISO RGD:1603336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11936269 ENHO energy homeostasis associated gene DOID:9870 galactosemia ISO RGD:1603336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11936274 PTP4A2 protein tyrosine phosphatase 4A2 gene DOID:630 genetic disease ISO RGD:734245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11936274 PTP4A2 protein tyrosine phosphatase 4A2 gene DOID:9775 diastolic heart failure ISO RGD:734245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 11936289 TFB1M transcription factor B1, mitochondrial gene DOID:630 genetic disease ISO RGD:1351892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11936315 TTC39C tetratricopeptide repeat domain 39C gene DOID:1059 intellectual disability ISO RGD:1345290 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11936315 TTC39C tetratricopeptide repeat domain 39C gene DOID:630 genetic disease ISO RGD:1345290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11936342 ATP6V1B1 ATPase H+ transporting V1 subunit B1 gene DOID:0050332 enlarged vestibular aqueduct ISO RGD:1321628 D RGD:9068941 20220825 MouseDO OMIM:600791 11936342 ATP6V1B1 ATPase H+ transporting V1 subunit B1 gene DOID:0050439 Usher syndrome ISO RGD:1321627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:30311386 11936342 ATP6V1B1 ATPase H+ transporting V1 subunit B1 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1321628 D RGD:9068941 20220825 MouseDO OMIM:607197 11936342 ATP6V1B1 ATPase H+ transporting V1 subunit B1 gene DOID:12679 nephrocalcinosis ISO RGD:1321627 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:12414817|PMID:16769747|PMID:18368028|PMID:22509993|PMID:25741868|PMID:28233610|PMID:28492532|PMID:28893421|PMID:31959358|PMID:9916796 11936342 ATP6V1B1 ATPase H+ transporting V1 subunit B1 gene DOID:14219 renal tubular acidosis ISO RGD:1321627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis | ClinVar Annotator: match by term: Renal tubular acidosis PMID:12414817|PMID:16611712|PMID:16769747|PMID:18368028|PMID:19364879|PMID:22509993|PMID:23923981|PMID:25741868|PMID:26571219|PMID:27247958|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28893421|PMID:31959358|PMID:9916796 11936342 ATP6V1B1 ATPase H+ transporting V1 subunit B1 gene DOID:14219 renal tubular acidosis susceptibility ISO RGD:1321627 D RGD:9068941 20200609 RGD DNA:mutation;associated with Hearing Loss, Sensorineural PMID:9916796|REF_RGD_ID:1599372 11936342 ATP6V1B1 ATPase H+ transporting V1 subunit B1 gene DOID:543 dystonia ISO RGD:1321627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11936342 ATP6V1B1 ATPase H+ transporting V1 subunit B1 gene DOID:630 genetic disease ISO RGD:1321627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12566520|PMID:17669226|PMID:18368028|PMID:23923981|PMID:24033266|PMID:25285676|PMID:25498251|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34159584|PMID:9916796 11936342 ATP6V1B1 ATPase H+ transporting V1 subunit B1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1321627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11936342 ATP6V1B1 ATPase H+ transporting V1 subunit B1 gene DOID:9000683 Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness ISO RGD:1321627 D RGD:7240710 20190315 OMIM 11936342 ATP6V1B1 ATPase H+ transporting V1 subunit B1 gene DOID:9000683 Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness ISO RGD:1321627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Renal tubular acidosis with progressive nerve deafness PMID:12414817|PMID:12566520|PMID:12579397|PMID:16199547|PMID:16433694|PMID:16611712|PMID:16769747|PMID:17669226|PMID:18368028|PMID:18798332|PMID:20805693|PMID:21614596|PMID:22509993|PMID:22966473|PMID:23923981|PMID:24033266|PMID:24448499|PMID:24975934|PMID:25164082|PMID:25285676|PMID:25296721|PMID:25498251|PMID:25741868|PMID:26453614|PMID:26467025|PMID:27247958|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28893421|PMID:29310826|PMID:29627839|PMID:30076350|PMID:30311386|PMID:30558562|PMID:31949730|PMID:31959358|PMID:34159584|PMID:35738466|PMID:8651253|PMID:9916796 11936342 ATP6V1B1 ATPase H+ transporting V1 subunit B1 gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1321627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 PMID:16199547|PMID:16611712|PMID:18368028|PMID:25285676|PMID:28492532|PMID:31549751|PMID:31733597|PMID:9916796 11936342 ATP6V1B1 ATPase H+ transporting V1 subunit B1 gene DOID:9004538 Hearing Loss ISO RGD:1321627 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:16769747|PMID:18368028|PMID:24033266|PMID:25741868|PMID:30311386|PMID:9916796 11936342 ATP6V1B1 ATPase H+ transporting V1 subunit B1 gene DOID:9004538 Hearing Loss ISO RGD:1321627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:16769747|PMID:18368028|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:34159584|PMID:9916796 11936342 ATP6V1B1 ATPase H+ transporting V1 subunit B1 gene DOID:9007406 Distal Renal Tubular Acidosis ISO RGD:1321627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:12414817|PMID:16611712|PMID:16769747|PMID:18368028|PMID:22509993|PMID:23923981|PMID:25741868|PMID:27247958|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28893421|PMID:31959358|PMID:9916796 11936371 PRDM11 PR/SET domain 11 gene DOID:1059 intellectual disability ISO RGD:1343614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11936398 GLOD5 glyoxalase domain containing 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11936398 GLOD5 glyoxalase domain containing 5 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1603816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 11936398 GLOD5 glyoxalase domain containing 5 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1603816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11936398 GLOD5 glyoxalase domain containing 5 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1603816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11936398 GLOD5 glyoxalase domain containing 5 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1603816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11936398 GLOD5 glyoxalase domain containing 5 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1603816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 11936398 GLOD5 glyoxalase domain containing 5 gene DOID:12849 autistic disorder ISO RGD:1603816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11936398 GLOD5 glyoxalase domain containing 5 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:16783379|PMID:22706301|PMID:23704091|PMID:24453067|PMID:28492532 11936398 GLOD5 glyoxalase domain containing 5 gene DOID:630 genetic disease ISO RGD:1603816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11936409 PIGP phosphatidylinositol glycan anchor biosynthesis class P gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:25741868|PMID:28334793|PMID:28492532|PMID:31139695|PMID:32042915 11936409 PIGP phosphatidylinositol glycan anchor biosynthesis class P gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1316260 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11936409 PIGP phosphatidylinositol glycan anchor biosynthesis class P gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1316260 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11936409 PIGP phosphatidylinositol glycan anchor biosynthesis class P gene DOID:0080283 developmental and epileptic encephalopathy 55 ISO RGD:1316260 D RGD:7240710 20190315 OMIM 11936409 PIGP phosphatidylinositol glycan anchor biosynthesis class P gene DOID:0080283 developmental and epileptic encephalopathy 55 ISO RGD:1316260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 55 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 55 PMID:25741868|PMID:28334793|PMID:28492532|PMID:31139695|PMID:32042915 11936409 PIGP phosphatidylinositol glycan anchor biosynthesis class P gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:28334793|PMID:28492532|PMID:31139695|PMID:32042915 11936409 PIGP phosphatidylinositol glycan anchor biosynthesis class P gene DOID:1826 epilepsy ISO RGD:1316260 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11936409 PIGP phosphatidylinositol glycan anchor biosynthesis class P gene DOID:630 genetic disease ISO RGD:1316260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11936409 PIGP phosphatidylinositol glycan anchor biosynthesis class P gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 11936438 LOC100980340 protoheme IX farnesyltransferase, mitochondrial gene DOID:0060041 autism spectrum disorder ISO RGD:1321106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:23044707|PMID:25741868|PMID:27569545 11936438 LOC100980340 protoheme IX farnesyltransferase, mitochondrial gene DOID:0110148 Charcot-Marie-Tooth disease type 1A ISO RGD:1321106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA PMID:25741868 11936438 LOC100980340 protoheme IX farnesyltransferase, mitochondrial gene DOID:12849 autistic disorder ISO RGD:1321106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11936438 LOC100980340 protoheme IX farnesyltransferase, mitochondrial gene DOID:14330 Parkinson's disease ISO RGD:1321107 D RGD:9068941 20220825 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 11936438 LOC100980340 protoheme IX farnesyltransferase, mitochondrial gene DOID:3652 Leigh disease ISO RGD:1321106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:17576681|PMID:23814038|PMID:25741868|PMID:28492532|PMID:9536098 11936438 LOC100980340 protoheme IX farnesyltransferase, mitochondrial gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1321106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:12928484|PMID:17576681|PMID:23814038|PMID:25741868|PMID:28492532|PMID:32313153|PMID:9536098 11936438 LOC100980340 protoheme IX farnesyltransferase, mitochondrial gene DOID:5419 schizophrenia ISO RGD:1321106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11936438 LOC100980340 protoheme IX farnesyltransferase, mitochondrial gene DOID:630 genetic disease ISO RGD:1321106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11936438 LOC100980340 protoheme IX farnesyltransferase, mitochondrial gene DOID:699 mitochondrial myopathy ISO RGD:1321107 D RGD:9068941 20220825 MouseDO OMIM:251900 11936438 LOC100980340 protoheme IX farnesyltransferase, mitochondrial gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1321106 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar Annotator: match by term: Necrotizing encephalopathy infantile subacute of Leigh PMID:25741868|PMID:28492532 11936438 LOC100980340 protoheme IX farnesyltransferase, mitochondrial gene DOID:9005748 Mitochondrial Complex IV Deficiency, Nuclear Type 3 ISO RGD:1321106 D RGD:7240710 20201111 OMIM 11936438 LOC100980340 protoheme IX farnesyltransferase, mitochondrial gene DOID:9005748 Mitochondrial Complex IV Deficiency, Nuclear Type 3 ISO RGD:1321106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 PMID:10767350|PMID:12928484|PMID:15455402|PMID:25741868|PMID:28492532|PMID:32313153 11936438 LOC100980340 protoheme IX farnesyltransferase, mitochondrial gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:1321106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:12928484|PMID:25741868|PMID:28492532|PMID:32313153 11936448 PXT1 peroxisomal testis enriched protein 1 gene DOID:0050553 JMP syndrome ISO RGD:1349206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11936448 PXT1 peroxisomal testis enriched protein 1 gene DOID:630 genetic disease ISO RGD:1349206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11936457 TMEM241 transmembrane protein 241 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1351617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 11936457 TMEM241 transmembrane protein 241 gene DOID:1059 intellectual disability ISO RGD:1351617 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11936457 TMEM241 transmembrane protein 241 gene DOID:630 genetic disease ISO RGD:1351617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11936494 FBXO24 F-box protein 24 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11936494 FBXO24 F-box protein 24 gene DOID:630 genetic disease ISO RGD:1312922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11936514 SELE selectin E gene DOID:0060224 atrial fibrillation ISO RGD:736831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17890461 11936514 SELE selectin E gene DOID:0080600 COVID-19 ISO RGD:736831 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 11936514 SELE selectin E gene DOID:0080600 COVID-19 severity ISO RGD:736831 D RGD:9068941 20200626 RGD mRNA,protein:increased expression:plasma (human) PMID:32458111|REF_RGD_ID:32716385 11936514 SELE selectin E gene DOID:1287 cardiovascular system disease ISO RGD:736831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16332659|PMID:16544732 11936514 SELE selectin E gene DOID:1540 parathyroid carcinoma ISO RGD:736831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11936514 SELE selectin E gene DOID:1555 urticaria ISO RGD:736831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12121561 11936514 SELE selectin E gene DOID:2316 brain ischemia ISO RGD:736831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17394460 11936514 SELE selectin E gene DOID:2316 brain ischemia ISO RGD:736831 D RGD:9068941 20200609 RGD associated with Hypertension PMID:19107136|REF_RGD_ID:2313600 11936514 SELE selectin E gene DOID:2377 multiple sclerosis ISO RGD:736831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20175758 11936514 SELE selectin E gene DOID:2986 IgA glomerulonephritis ISO RGD:736831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: IgA nephropathy, susceptibility to PMID:11828340|PMID:16282702 11936514 SELE selectin E gene DOID:3042 allergic contact dermatitis ISO RGD:736831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17597826 11936514 SELE selectin E gene DOID:3310 atopic dermatitis ISO RGD:736831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12410700 11936514 SELE selectin E gene DOID:3393 coronary artery disease ISO RGD:736831 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Coronary artery disease PMID:25741868 11936514 SELE selectin E gene DOID:3393 coronary artery disease susceptibility ISO RGD:736831 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:mutation: :p.S128R (human) PMID:17578587|REF_RGD_ID:2313596 11936514 SELE selectin E gene DOID:630 genetic disease ISO RGD:736831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11936514 SELE selectin E gene DOID:6713 cerebrovascular disease ISO RGD:736831 D RGD:9068941 20200609 RGD DNA:polymorphism: :561A>C (p.S128R) (human) PMID:16843446|REF_RGD_ID:2313597 11936514 SELE selectin E gene DOID:820 myocarditis ISO RGD:11283 D RGD:9068941 20200609 RGD PMID:22268115|REF_RGD_ID:13702908 11936514 SELE selectin E gene DOID:848 arthritis ISO RGD:11283 D RGD:9068941 20200609 RGD PMID:16207337|REF_RGD_ID:1580041 11936514 SELE selectin E gene DOID:8481 rheumatic myocarditis severity ISO RGD:736831 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22987107|REF_RGD_ID:13702907 11936514 SELE selectin E gene DOID:9000808 Hypercholesterolemia ISO RGD:736831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14602771 11936514 SELE selectin E gene DOID:9000998 Brain Injuries ISO RGD:3654 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19107536|REF_RGD_ID:2313599 11936514 SELE selectin E gene DOID:9004009 Reperfusion Injury ISO RGD:3654 D RGD:9068941 20200609 RGD PMID:19489247|REF_RGD_ID:2313598 11936514 SELE selectin E gene DOID:9004009 Reperfusion Injury ISO RGD:736831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17112405|PMID:23743330 11936514 SELE selectin E gene DOID:9007102 Myocardial Ischemia ISO RGD:736831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11936514 SELE selectin E gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:736831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 11936514 SELE selectin E gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11936514 SELE selectin E gene DOID:9744 type 1 diabetes mellitus ISO RGD:736831 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18791689|REF_RGD_ID:2313595 11936532 ARL8B ADP ribosylation factor like GTPase 8B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11936543 SCYL3 SCY1 like pseudokinase 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1603625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11936543 SCYL3 SCY1 like pseudokinase 3 gene DOID:630 genetic disease ISO RGD:1603625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11936543 SCYL3 SCY1 like pseudokinase 3 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1603625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 11936543 SCYL3 SCY1 like pseudokinase 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11936569 SEMG2 semenogelin 2 gene DOID:2234 focal epilepsy ISO RGD:1345967 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11936569 SEMG2 semenogelin 2 gene DOID:630 genetic disease ISO RGD:1345967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11936569 SEMG2 semenogelin 2 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1345967 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11936573 CD5 CD5 molecule gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:736702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11936573 CD5 CD5 molecule gene DOID:1059 intellectual disability ISO RGD:736702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11936573 CD5 CD5 molecule gene DOID:630 genetic disease ISO RGD:736702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11936573 CD5 CD5 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:736702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 11936573 CD5 CD5 molecule gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:736702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18006695 11936588 FOXB1 forkhead box B1 gene DOID:2717 Bloom syndrome ISO RGD:1313112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11936588 FOXB1 forkhead box B1 gene DOID:630 genetic disease ISO RGD:1313112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11936588 FOXB1 forkhead box B1 gene DOID:9256 colorectal cancer ISO RGD:1313112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11936594 NEK8 NIMA related kinase 8 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1552572 D RGD:9068941 20220825 MouseDO OMIM:263200 11936594 NEK8 NIMA related kinase 8 gene DOID:0111120 nephronophthisis 9 ISO RGD:1315774 D RGD:7240710 20180130 OMIM 11936594 NEK8 NIMA related kinase 8 gene DOID:0111120 nephronophthisis 9 ISO RGD:1315774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis 9 PMID:16199547|PMID:17576681|PMID:18199800|PMID:22106379|PMID:23026745|PMID:23418306|PMID:25741868|PMID:26697755|PMID:26967905|PMID:28492532|PMID:9536098 11936594 NEK8 NIMA related kinase 8 gene DOID:5426 primary ovarian insufficiency ISO RGD:1315774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:23418306|PMID:25741868|PMID:28492532 11936594 NEK8 NIMA related kinase 8 gene DOID:557 kidney disease ISO RGD:1315774 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 11936594 NEK8 NIMA related kinase 8 gene DOID:630 genetic disease ISO RGD:1315774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11936594 NEK8 NIMA related kinase 8 gene DOID:9001222 Renal-Hepatic-Pancreatic Dysplasia 2 ISO RGD:1315774 D RGD:7240710 20180130 OMIM 11936594 NEK8 NIMA related kinase 8 gene DOID:9001222 Renal-Hepatic-Pancreatic Dysplasia 2 ISO RGD:1315774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 2 PMID:19550299|PMID:23418306|PMID:25741868|PMID:25741876|PMID:26697755|PMID:26862157|PMID:26967905|PMID:28492532 11936594 NEK8 NIMA related kinase 8 gene DOID:9003100 Pancreatic Neoplasms ISO RGD:1315774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic neoplasm PMID:20581473 11936626 CTTNBP2 cortactin binding protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1353355 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 11936626 CTTNBP2 cortactin binding protein 2 gene DOID:10283 prostate cancer ISO RGD:1353355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11936626 CTTNBP2 cortactin binding protein 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11936626 CTTNBP2 cortactin binding protein 2 gene DOID:630 genetic disease ISO RGD:1353355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11936626 CTTNBP2 cortactin binding protein 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1353355 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11936664 IFT122 intraflagellar transport 122 gene DOID:0050572 cone-rod dystrophy ISO RGD:1349473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:25741868|PMID:28492532 11936664 IFT122 intraflagellar transport 122 gene DOID:0050577 cranioectodermal dysplasia ISO RGD:1349473 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia PMID:23826986|PMID:24027799|PMID:25741868|PMID:28492532 11936664 IFT122 intraflagellar transport 122 gene DOID:0080803 cranioectodermal dysplasia 1 ISO RGD:1349473 D RGD:7240710 20190327 OMIM 11936664 IFT122 intraflagellar transport 122 gene DOID:0080803 cranioectodermal dysplasia 1 ISO RGD:1349473 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 PMID:16199547|PMID:17022080|PMID:17576681|PMID:19648123|PMID:19760620|PMID:20493458|PMID:23826986|PMID:24027799|PMID:25326637|PMID:25741868|PMID:26792575|PMID:28370949|PMID:28492532|PMID:29037998|PMID:33532864|PMID:33717254|PMID:9536098 11936664 IFT122 intraflagellar transport 122 gene DOID:0111947 immunodeficiency 21 ISO RGD:1349473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 11936664 IFT122 intraflagellar transport 122 gene DOID:10907 microcephaly ISO RGD:1349473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11936664 IFT122 intraflagellar transport 122 gene DOID:10908 hydrocephalus ISO RGD:1349473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20493458 11936664 IFT122 intraflagellar transport 122 gene DOID:2340 craniosynostosis ISO RGD:1349473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20493458 11936664 IFT122 intraflagellar transport 122 gene DOID:557 kidney disease ISO RGD:1349473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20493458 11936664 IFT122 intraflagellar transport 122 gene DOID:630 genetic disease ISO RGD:1349473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11936664 IFT122 intraflagellar transport 122 gene DOID:65 connective tissue disease ISO RGD:1349473 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25326637|PMID:25741868|PMID:28492532 11936664 IFT122 intraflagellar transport 122 gene DOID:9001591 Ciliary Motility Disorders ISO RGD:1349473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20493458 11936664 IFT122 intraflagellar transport 122 gene DOID:9002608 Spinal Curvatures ISO RGD:1349473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20493458 11936664 IFT122 intraflagellar transport 122 gene DOID:9002860 Cardiac Edema ISO RGD:1349473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20493458 11936664 IFT122 intraflagellar transport 122 gene DOID:9008296 Eye Abnormalities ISO RGD:1349473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20493458 11936664 IFT122 intraflagellar transport 122 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1349473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 11936664 IFT122 intraflagellar transport 122 gene DOID:9270 alkaptonuria ISO RGD:1349473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11936706 SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:0050753 cerebellar ataxia ISO RGD:1606287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25558065 11936706 SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:0050952 spastic ataxia ISO RGD:1606287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25044680|PMID:25741868|PMID:28492532|PMID:34445196 11936706 SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1606287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:20920667|PMID:23052947|PMID:23275319|PMID:24305467|PMID:25741868|PMID:25880436|PMID:26888482|PMID:27175728|PMID:27473727|PMID:27576344|PMID:28492532|PMID:29709707|PMID:31589614|PMID:33600046 11936706 SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1606287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:20920667|PMID:23052947|PMID:23275319|PMID:24305467|PMID:25741868|PMID:25880436|PMID:26888482|PMID:27175728|PMID:27473727|PMID:27576344|PMID:28492532|PMID:29709707|PMID:31589614|PMID:33600046 11936706 SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:0060270 pontocerebellar hypoplasia type 2D ISO RGD:1606287 D RGD:7240710 20180130 OMIM 11936706 SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:0060270 pontocerebellar hypoplasia type 2D ISO RGD:1606287 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2D PMID:12920088|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20920667|PMID:23052947|PMID:23275319|PMID:24305467|PMID:25044680|PMID:25558065|PMID:25590979|PMID:25741868|PMID:25880436|PMID:26115735|PMID:26805434|PMID:26888482|PMID:27175728|PMID:27473727|PMID:27576344|PMID:28492532|PMID:29709707|PMID:31130284|PMID:31589614|PMID:31607746|PMID:32214227|PMID:33600046|PMID:34445196|PMID:9536098 11936706 SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:0070338 cerebellar hypoplasia ISO RGD:1606287 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868 11936706 SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:630 genetic disease ISO RGD:1606287 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25558065|PMID:25590979|PMID:25741868|PMID:26115735|PMID:28492532|PMID:31607746|PMID:9536098 11936706 SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11936706 SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:9004657 Weight Gain ISO RGD:1606287 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11936731 MYH11 myosin heavy chain 11 gene DOID:0050453 lissencephaly ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:18391202|PMID:24033266|PMID:25741868|PMID:26017485|PMID:26436109|PMID:28166811|PMID:28492532|PMID:31664448 11936731 MYH11 myosin heavy chain 11 gene DOID:0050453 lissencephaly ISO RGD:737424 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:18391202|PMID:24033266|PMID:25741868|PMID:26017485|PMID:26436109|PMID:28492532|PMID:28679693|PMID:30122538|PMID:31664448 11936731 MYH11 myosin heavy chain 11 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:737424 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:10199307|PMID:10854329|PMID:14722581|PMID:16444274|PMID:17666408|PMID:17956658|PMID:20734336|PMID:22511748|PMID:22968129|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25741868|PMID:26017485|PMID:26332594|PMID:26792327|PMID:27418595|PMID:27879251|PMID:28492532|PMID:29494672|PMID:29961567|PMID:7923625 11936731 MYH11 myosin heavy chain 11 gene DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 11936731 MYH11 myosin heavy chain 11 gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:737424 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction | ClinVar Annotator: match by term: Visceral myopathy PMID:25407000|PMID:25741868|PMID:31389005 11936731 MYH11 myosin heavy chain 11 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bicuspid aortic valve PMID:25741868|PMID:28492532 11936731 MYH11 myosin heavy chain 11 gene DOID:0080600 COVID-19 ISO RGD:737424 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11936731 MYH11 myosin heavy chain 11 gene DOID:0081082 acute myelomonocytic leukemia ISO RGD:737424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10958941 11936731 MYH11 myosin heavy chain 11 gene DOID:0112235 lissencephaly 4 ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly 4 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 11936731 MYH11 myosin heavy chain 11 gene DOID:12849 autistic disorder ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11936731 MYH11 myosin heavy chain 11 gene DOID:13832 patent ductus arteriosus ISO RGD:737424 D RGD:9068941 20200609 RGD PMID:16444274|REF_RGD_ID:1580903 11936731 MYH11 myosin heavy chain 11 gene DOID:13832 patent ductus arteriosus ISO RGD:737424 D RGD:9068941 20230202 RGD DNA:mutation:cds:c.4599+1delG (human) PMID:27418595|REF_RGD_ID:155883161 11936731 MYH11 myosin heavy chain 11 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737424 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10199307|PMID:10854329|PMID:14722581|PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:18391202|PMID:18796164|PMID:20226094|PMID:20734336|PMID:21521776|PMID:21937134|PMID:22001912|PMID:22511748|PMID:22955375|PMID:22968129|PMID:23099432|PMID:23142374|PMID:23696586|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25110237|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25839328|PMID:25944730|PMID:26000489|PMID:26017485|PMID:26077850|PMID:26133393|PMID:26188975|PMID:26332594|PMID:26436109|PMID:26467025|PMID:26792327|PMID:27146836|PMID:27149842|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:27879251|PMID:28074631|PMID:28074886|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28659821|PMID:28679693|PMID:28855619|PMID:29494672|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29650765|PMID:29907982|PMID:29961567|PMID:30122538|PMID:30675029|PMID:30739908|PMID:30885847|PMID:31473177|PMID:31664448|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32233023|PMID:32238909|PMID:32368696|PMID:32600061|PMID:33824467|PMID:7923625|PMID:9536098 11936731 MYH11 myosin heavy chain 11 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737424 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10199307|PMID:10854329|PMID:14722581|PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:18391202|PMID:18796164|PMID:20226094|PMID:20734336|PMID:21521776|PMID:21937134|PMID:22001912|PMID:22511748|PMID:22955375|PMID:22968129|PMID:23099432|PMID:23142374|PMID:23696586|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25110237|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25839328|PMID:25944730|PMID:26000489|PMID:26017485|PMID:26077850|PMID:26133393|PMID:26188975|PMID:26332594|PMID:26436109|PMID:26467025|PMID:26792327|PMID:27146836|PMID:27149842|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:27879251|PMID:28074631|PMID:28074886|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28659821|PMID:28679693|PMID:28855619|PMID:29494672|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29650765|PMID:29907982|PMID:29961567|PMID:30122538|PMID:30675029|PMID:30739908|PMID:30885847|PMID:31473177|PMID:31664448|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32233023|PMID:32238909|PMID:32368696|PMID:32600061|PMID:33726816|PMID:33824467|PMID:7923625|PMID:9536098 11936731 MYH11 myosin heavy chain 11 gene DOID:14323 Marfan syndrome ISO RGD:737424 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:25944730|PMID:28492532 11936731 MYH11 myosin heavy chain 11 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:25741868|PMID:28492532 11936731 MYH11 myosin heavy chain 11 gene DOID:1826 epilepsy ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11936731 MYH11 myosin heavy chain 11 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum PMID:11439001|PMID:16541094 11936731 MYH11 myosin heavy chain 11 gene DOID:3627 aortic aneurysm ISO RGD:737424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm | ClinVar Annotator: match by term: Aortic dilatation PMID:22001912|PMID:25741868|PMID:28492532 11936731 MYH11 myosin heavy chain 11 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868 11936731 MYH11 myosin heavy chain 11 gene DOID:4080 tricuspid valve insufficiency ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tricuspid regurgitation PMID:25741868 11936731 MYH11 myosin heavy chain 11 gene DOID:520 aortic disease ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 11936731 MYH11 myosin heavy chain 11 gene DOID:5419 schizophrenia ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11936731 MYH11 myosin heavy chain 11 gene DOID:630 genetic disease ISO RGD:737424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10199307|PMID:10854329|PMID:14722581|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:20734336|PMID:22511748|PMID:22968129|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25500235|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26332594|PMID:26792327|PMID:27418595|PMID:27879251|PMID:28492532|PMID:29494672|PMID:29961567|PMID:7923625|PMID:8316857|PMID:9536098 11936731 MYH11 myosin heavy chain 11 gene DOID:6420 pulmonary valve stenosis ISO RGD:737424 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:25741868|PMID:28492532 11936731 MYH11 myosin heavy chain 11 gene DOID:65 connective tissue disease ISO RGD:737424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:10199307|PMID:10854329|PMID:14722581|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:20734336|PMID:22001912|PMID:22511748|PMID:22968129|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25500235|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26332594|PMID:26792327|PMID:27153395|PMID:27418595|PMID:27879251|PMID:28492532|PMID:29494672|PMID:29543232|PMID:29907982|PMID:29961567|PMID:32238909|PMID:32368696|PMID:7923625|PMID:9536098 11936731 MYH11 myosin heavy chain 11 gene DOID:7693 abdominal aortic aneurysm ISO RGD:737424 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:30004237|REF_RGD_ID:13782270 11936731 MYH11 myosin heavy chain 11 gene DOID:8445 intestinal volvulus ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11936731 MYH11 myosin heavy chain 11 gene DOID:9000664 Familial Thoracic Aortic Aneurysm 4 ISO RGD:737424 D RGD:7240710 20180130 OMIM 11936731 MYH11 myosin heavy chain 11 gene DOID:9000664 Familial Thoracic Aortic Aneurysm 4 ISO RGD:737424 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:10199307|PMID:10854329|PMID:11249915|PMID:14722581|PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:18391202|PMID:18796164|PMID:20226094|PMID:20734336|PMID:21521776|PMID:21698135|PMID:21937134|PMID:22001912|PMID:22318994|PMID:22511748|PMID:22955375|PMID:22968129|PMID:23099432|PMID:23142374|PMID:23696586|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25110237|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25500235|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25839328|PMID:25944730|PMID:26000489|PMID:26017485|PMID:26077850|PMID:26133393|PMID:26188975|PMID:26332594|PMID:26436109|PMID:26467025|PMID:26792327|PMID:27081537|PMID:27146836|PMID:27149842|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:27879251|PMID:27884122|PMID:28074631|PMID:28074886|PMID:28166811|PMID:28195393|PMID:28367076|PMID:28492532|PMID:28659821|PMID:28679693|PMID:28855619|PMID:29179725|PMID:29441698|PMID:29494672|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29650765|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30122538|PMID:30675029|PMID:30739908|PMID:30885847|PMID:31473177|PMID:31664448|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32081817|PMID:32233023|PMID:32238909|PMID:32368696|PMID:32600061|PMID:33726816|PMID:33824467|PMID:35535697|PMID:7923625|PMID:9536098 11936731 MYH11 myosin heavy chain 11 gene DOID:9000924 Gastrointestinal Motility Disorders ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal and colonic dysmotility PMID:18391202 11936731 MYH11 myosin heavy chain 11 gene DOID:9001104 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 ISO RGD:737424 D RGD:7240710 20210616 OMIM 11936731 MYH11 myosin heavy chain 11 gene DOID:9001104 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 ISO RGD:737424 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 PMID:10199307|PMID:10854329|PMID:14722581|PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:20734336|PMID:21521776|PMID:22001912|PMID:22511748|PMID:22968129|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25110237|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25741868|PMID:26017485|PMID:26332594|PMID:26792327|PMID:27418595|PMID:27879251|PMID:28492532|PMID:29494672|PMID:29543232|PMID:29575632|PMID:29907982|PMID:29961567|PMID:30739908|PMID:30885847|PMID:32238909|PMID:33726816|PMID:7923625|PMID:9536098 11936731 MYH11 myosin heavy chain 11 gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI PMID:25500235|PMID:25637381|PMID:25741868|PMID:28492532 11936731 MYH11 myosin heavy chain 11 gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:737424 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:25944730|PMID:28492532 11936731 MYH11 myosin heavy chain 11 gene DOID:9007096 Stroke ISO RGD:737424 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:28492532 11936731 MYH11 myosin heavy chain 11 gene DOID:9007521 Desbuquois Dysplasia 1 ISO RGD:737424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 1 PMID:24581741|PMID:26601923|PMID:28492532|PMID:30554721 11936731 MYH11 myosin heavy chain 11 gene DOID:9008419 Volvulus Of Midgut ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11936731 MYH11 myosin heavy chain 11 gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:737424 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: AAT1 | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:10199307|PMID:10854329|PMID:14722581|PMID:16444274|PMID:17666408|PMID:17956658|PMID:20734336|PMID:22511748|PMID:22968129|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26332594|PMID:26792327|PMID:27418595|PMID:27879251|PMID:28492532|PMID:29494672|PMID:29961567|PMID:33726816|PMID:7923625 11936731 MYH11 myosin heavy chain 11 gene DOID:9009175 Visceral Myopathy 2 ISO RGD:737424 D RGD:7240710 20210616 OMIM 11936731 MYH11 myosin heavy chain 11 gene DOID:9009175 Visceral Myopathy 2 ISO RGD:737424 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: VISCERAL MYOPATHY 2 | ClinVar Annotator: match by term: Visceral myopathy 2 PMID:10199307|PMID:10854329|PMID:14722581|PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:18391202|PMID:20734336|PMID:21521776|PMID:22001912|PMID:22511748|PMID:22968129|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25110237|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25741868|PMID:26017485|PMID:26332594|PMID:26792327|PMID:27418595|PMID:27879251|PMID:28492532|PMID:29494672|PMID:29543232|PMID:29575632|PMID:29907982|PMID:29961567|PMID:30739908|PMID:30885847|PMID:31389005|PMID:32238909|PMID:33726816|PMID:7923625|PMID:9536098 11936731 MYH11 myosin heavy chain 11 gene DOID:9119 acute myeloid leukemia ISO RGD:737424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229|PMID:27798625 11936778 CUBN cubilin gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:68502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11936778 CUBN cubilin gene DOID:13382 megaloblastic anemia ISO RGD:68502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Megaloblastic anemia | ClinVar Annotator: match by term: Megaloblastic anemia due to inborn errors of metabolism PMID:10080186|PMID:10887099|PMID:15024727|PMID:15963748|PMID:16199547|PMID:17576681|PMID:17668238|PMID:22277662|PMID:22495309|PMID:22929189|PMID:24033266|PMID:24156255|PMID:25349199|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27197912|PMID:28492532|PMID:29801666|PMID:31497480|PMID:31613795|PMID:33226606|PMID:33532864|PMID:34979989|PMID:9536098 11936778 CUBN cubilin gene DOID:1909 melanoma ISO RGD:68502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11936778 CUBN cubilin gene DOID:630 genetic disease ISO RGD:68502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 11936778 CUBN cubilin gene DOID:670 amphetamine abuse ISO RGD:68502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11936778 CUBN cubilin gene DOID:9002165 Diabetic Nephropathies ISO RGD:68355 D RGD:9068941 20200609 RGD PMID:17037740|REF_RGD_ID:1599655 11936778 CUBN cubilin gene DOID:9005529 Chronic Benign Proteinuria ISO RGD:68502 D RGD:7240710 20200819 OMIM 11936778 CUBN cubilin gene DOID:9005529 Chronic Benign Proteinuria ISO RGD:68502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Proteinuria, chronic benign PMID:10080186|PMID:15024727|PMID:16199547|PMID:17576681|PMID:17668238|PMID:22929189|PMID:24033266|PMID:25349199|PMID:25741868|PMID:28492532|PMID:29801666|PMID:31613795|PMID:33226606|PMID:33532864|PMID:34979989|PMID:9536098 11936778 CUBN cubilin gene DOID:9006481 Imerslund-Grasbeck Syndrome 1 ISO RGD:68502 D RGD:7240710 20180130 OMIM 11936778 CUBN cubilin gene DOID:9006481 Imerslund-Grasbeck Syndrome 1 ISO RGD:68502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type PMID:10080186|PMID:10887099|PMID:15024727|PMID:15963748|PMID:16199547|PMID:17576681|PMID:17668238|PMID:21208123|PMID:22277662|PMID:22495309|PMID:22929189|PMID:24033266|PMID:24156255|PMID:25349199|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27197912|PMID:28492532|PMID:29801666|PMID:31497480|PMID:31613795|PMID:33226606|PMID:33532864|PMID:34979989|PMID:9536098 11936778 CUBN cubilin gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:68502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:10080186|PMID:10887099|PMID:15024727|PMID:15963748|PMID:16199547|PMID:17576681|PMID:17668238|PMID:22277662|PMID:22495309|PMID:22929189|PMID:24033266|PMID:24156255|PMID:25349199|PMID:25525159|PMID:25741868|PMID:26040326|PMID:26467025|PMID:27197912|PMID:28204945|PMID:28492532|PMID:29801666|PMID:31497480|PMID:31613795|PMID:33226606|PMID:33532864|PMID:34979989|PMID:9536098 11936848 CALML4 calmodulin like 4 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1344788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11936848 CALML4 calmodulin like 4 gene DOID:2717 Bloom syndrome ISO RGD:1344788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11936848 CALML4 calmodulin like 4 gene DOID:630 genetic disease ISO RGD:1344788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11936848 CALML4 calmodulin like 4 gene DOID:9256 colorectal cancer ISO RGD:1344788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11936878 LOC103785758 zinc finger protein 17 gene DOID:630 genetic disease ISO RGD:1347267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11936918 ZNF319 zinc finger protein 319 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1314677 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11936918 ZNF319 zinc finger protein 319 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1314677 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11936918 ZNF319 zinc finger protein 319 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1314677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11936918 ZNF319 zinc finger protein 319 gene DOID:630 genetic disease ISO RGD:1314677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11936924 FLOT1 flotillin 1 gene DOID:0050553 JMP syndrome ISO RGD:736684 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11936924 FLOT1 flotillin 1 gene DOID:11100 Q fever ISO RGD:736684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16469060 11936924 FLOT1 flotillin 1 gene DOID:11372 megacolon ISO RGD:736684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11936924 FLOT1 flotillin 1 gene DOID:630 genetic disease ISO RGD:736684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11936957 SMIM21 small integral membrane protein 21 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1604712 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11936957 SMIM21 small integral membrane protein 21 gene DOID:1059 intellectual disability ISO RGD:1604712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 11936957 SMIM21 small integral membrane protein 21 gene DOID:630 genetic disease ISO RGD:1604712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11936957 SMIM21 small integral membrane protein 21 gene DOID:6420 pulmonary valve stenosis ISO RGD:1604712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 11936957 SMIM21 small integral membrane protein 21 gene DOID:8445 intestinal volvulus ISO RGD:1604712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11936957 SMIM21 small integral membrane protein 21 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11936957 SMIM21 small integral membrane protein 21 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1604712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11936967 KLB klotho beta gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1604985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29289645 11936967 KLB klotho beta gene DOID:0111586 Martsolf syndrome 1 ISO RGD:1604985 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:25741868 11936967 KLB klotho beta gene DOID:10584 retinitis pigmentosa ISO RGD:1331989 D RGD:9068941 20200609 RGD protein:increased expression:outer nuclear layer: PMID:23796581|REF_RGD_ID:10403060 11936967 KLB klotho beta gene DOID:13938 amenorrhea ISO RGD:1604985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 11936967 KLB klotho beta gene DOID:630 genetic disease ISO RGD:1604985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11936967 KLB klotho beta gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1604985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 11936980 JMJD4 jumonji domain containing 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1607006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11936980 JMJD4 jumonji domain containing 4 gene DOID:630 genetic disease ISO RGD:1607006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11936980 JMJD4 jumonji domain containing 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11936990 ZFAND4 zinc finger AN1-type containing 4 gene DOID:630 genetic disease ISO RGD:1347960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937032 FCRLB Fc receptor like B gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1605583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 11937032 FCRLB Fc receptor like B gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1605583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11937032 FCRLB Fc receptor like B gene DOID:1540 parathyroid carcinoma ISO RGD:1605583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11937032 FCRLB Fc receptor like B gene DOID:630 genetic disease ISO RGD:1605583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937032 FCRLB Fc receptor like B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11937057 DDX19A DEAD-box helicase 19A gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1349788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11937057 DDX19A DEAD-box helicase 19A gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1349788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11937057 DDX19A DEAD-box helicase 19A gene DOID:630 genetic disease ISO RGD:1349788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937068 FAM124B family with sequence similarity 124 member B gene DOID:630 genetic disease ISO RGD:1602681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937068 FAM124B family with sequence similarity 124 member B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11937074 ZNF668 zinc finger protein 668 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1605939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11937074 ZNF668 zinc finger protein 668 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1605939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:25362483|PMID:26818399|PMID:28492532 11937074 ZNF668 zinc finger protein 668 gene DOID:10907 microcephaly ISO RGD:1605939 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Progressive microcephaly PMID:26633546|PMID:34313816 11937074 ZNF668 zinc finger protein 668 gene DOID:2661 myoepithelioma ISO RGD:1605939 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11937074 ZNF668 zinc finger protein 668 gene DOID:630 genetic disease ISO RGD:1605939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937074 ZNF668 zinc finger protein 668 gene DOID:9001276 Failure to Thrive ISO RGD:1605939 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:26633546|PMID:34313816 11937074 ZNF668 zinc finger protein 668 gene DOID:9005566 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES ISO RGD:1605939 D RGD:7240710 20230505 OMIM 11937074 ZNF668 zinc finger protein 668 gene DOID:9005566 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES ISO RGD:1605939 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies PMID:26633546|PMID:34313816 11937074 ZNF668 zinc finger protein 668 gene DOID:9005834 Ependymomas ISO RGD:1605939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075792 11937091 LGALSL galectin like gene DOID:630 genetic disease ISO RGD:1606012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937091 LGALSL galectin like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11937103 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:0050439 Usher syndrome ISO RGD:1604372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 11937103 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:0060237 Warburg micro syndrome ISO RGD:1604372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Warburg micro syndrome PMID:28492532 11937103 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1604372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 11937103 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:0110717 Warburg micro syndrome 2 ISO RGD:1604372 D RGD:7240710 20180130 OMIM 11937103 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:0110717 Warburg micro syndrome 2 ISO RGD:1604372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Warburg micro syndrome 2 PMID:16199547|PMID:20967465|PMID:23420520|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29300443|PMID:32740904|PMID:32870266 11937103 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:0111586 Martsolf syndrome 1 ISO RGD:1604372 D RGD:7240710 20180130 OMIM 11937103 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:0111586 Martsolf syndrome 1 ISO RGD:1604372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:16532399|PMID:23420520|PMID:24891604|PMID:25741868|PMID:28492532|PMID:29300443|PMID:32740904 11937103 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:10629 microphthalmia ISO RGD:1604372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmos PMID:25741868 11937103 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:10907 microcephaly ISO RGD:1604372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11937103 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:13938 amenorrhea ISO RGD:1604372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:25741868|PMID:28492532|PMID:32870266 11937103 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1604372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11937103 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:630 genetic disease ISO RGD:1604372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32870266 11937103 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:83 cataract ISO RGD:1604372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 11937103 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:9006949 Martsolf Syndrome ISO RGD:1604372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:16199547|PMID:16532399|PMID:17576681|PMID:18414213|PMID:23420520|PMID:24033266|PMID:24891604|PMID:25533962|PMID:25741868|PMID:28492532|PMID:29300443|PMID:29419336|PMID:32740904|PMID:32870266|PMID:9536098 11937103 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1604372 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:32870266 11937103 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1604372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 11937103 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11937142 FRMD1 FERM domain containing 1 gene DOID:0111190 distal muscular dystrophy 4 ISO RGD:1352660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement PMID:25741868 11937142 FRMD1 FERM domain containing 1 gene DOID:630 genetic disease ISO RGD:1352660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937178 LDAF1 lipid droplet assembly factor 1 gene DOID:630 genetic disease ISO RGD:1601747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937204 PIMREG PICALM interacting mitotic regulator gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1604005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:28492532 11937204 PIMREG PICALM interacting mitotic regulator gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1604005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 11937204 PIMREG PICALM interacting mitotic regulator gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:1604005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 11937204 PIMREG PICALM interacting mitotic regulator gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1604005 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11937204 PIMREG PICALM interacting mitotic regulator gene DOID:0111010 cone-rod dystrophy 5 ISO RGD:1604005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 5 11937204 PIMREG PICALM interacting mitotic regulator gene DOID:630 genetic disease ISO RGD:1604005 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937216 SLC6A2 solute carrier family 6 member 2 gene DOID:10273 heart conduction disease ISO RGD:731948 D RGD:9068941 20220825 MouseDO 11937216 SLC6A2 solute carrier family 6 member 2 gene DOID:10763 hypertension ISO RGD:731947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22533655 11937216 SLC6A2 solute carrier family 6 member 2 gene DOID:10763 hypertension ISO RGD:731947 D RGD:9068941 20200609 RGD DNA:polymorphism:1287G>A PMID:17124432|REF_RGD_ID:1624279 11937216 SLC6A2 solute carrier family 6 member 2 gene DOID:11569 neurocirculatory asthenia ISO RGD:731947 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neurocirculatory asthenia PMID:10684912|PMID:11875370 11937216 SLC6A2 solute carrier family 6 member 2 gene DOID:1596 depressive disorder ISO RGD:621822 D RGD:9068941 20200609 RGD PMID:18800064|REF_RGD_ID:6218960 11937216 SLC6A2 solute carrier family 6 member 2 gene DOID:630 genetic disease ISO RGD:731947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937216 SLC6A2 solute carrier family 6 member 2 gene DOID:9004453 Orthostatic Intolerance ISO RGD:731947 D RGD:7240710 20180130 OMIM 11937216 SLC6A2 solute carrier family 6 member 2 gene DOID:9004453 Orthostatic Intolerance ISO RGD:731947 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: SLC6A2-related disorder 11937238 NID2 nidogen 2 gene DOID:630 genetic disease ISO RGD:1323271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937238 NID2 nidogen 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11937278 CFAP276 cilia and flagella associated protein 276 gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:1319313 D RGD:9068941 20220825 MouseDO 11937278 CFAP276 cilia and flagella associated protein 276 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1604538 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11937278 CFAP276 cilia and flagella associated protein 276 gene DOID:12849 autistic disorder ISO RGD:1604538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11937287 RTP4 receptor transporter protein 4 gene DOID:5419 schizophrenia ISO RGD:1605965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11937287 RTP4 receptor transporter protein 4 gene DOID:630 genetic disease ISO RGD:1605965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937287 RTP4 receptor transporter protein 4 gene DOID:9001488 Human Influenza ISO RGD:1605965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11937293 SNRPG small nuclear ribonucleoprotein polypeptide G gene DOID:3910 lung adenocarcinoma ISO RGD:1353294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11937293 SNRPG small nuclear ribonucleoprotein polypeptide G gene DOID:9006205 Animal Disease Models ISO RGD:1353294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11937293 SNRPG small nuclear ribonucleoprotein polypeptide G gene DOID:9261 nasopharynx carcinoma ISO RGD:1353294 D RGD:9068941 20200609 RGD mRNA:increased expression:nasopharynx (human) PMID:24080422|REF_RGD_ID:10755709 11937301 LOC100971782 keratin, type I cuticular Ha1 gene DOID:630 genetic disease ISO RGD:1315199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937317 TMEM40 transmembrane protein 40 gene DOID:0080549 Noonan syndrome with multiple lentigines 2 ISO RGD:1343546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 2 11937317 TMEM40 transmembrane protein 40 gene DOID:0080690 RASopathy ISO RGD:1343546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11937317 TMEM40 transmembrane protein 40 gene DOID:630 genetic disease ISO RGD:1343546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937331 DNLZ DNL-type zinc finger gene DOID:0050777 Joubert syndrome ISO RGD:2289758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11937331 DNLZ DNL-type zinc finger gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:2289758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11937331 DNLZ DNL-type zinc finger gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:2289758 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11937331 DNLZ DNL-type zinc finger gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:2289758 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11937331 DNLZ DNL-type zinc finger gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:2289758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11937331 DNLZ DNL-type zinc finger gene DOID:0080324 tuberous sclerosis 1 ISO RGD:2289758 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11937331 DNLZ DNL-type zinc finger gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:2289758 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11937331 DNLZ DNL-type zinc finger gene DOID:0081097 Rafiq syndrome ISO RGD:2289758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11937331 DNLZ DNL-type zinc finger gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:2289758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 11937331 DNLZ DNL-type zinc finger gene DOID:3652 Leigh disease ISO RGD:2289758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11937331 DNLZ DNL-type zinc finger gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:2289758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 11937338 RNF125 ring finger protein 125 gene DOID:1059 intellectual disability ISO RGD:1315557 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11937338 RNF125 ring finger protein 125 gene DOID:630 genetic disease ISO RGD:1315557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11937338 RNF125 ring finger protein 125 gene DOID:9000905 Tenorio Syndrome ISO RGD:1315557 D RGD:7240710 20180130 OMIM 11937338 RNF125 ring finger protein 125 gene DOID:9000905 Tenorio Syndrome ISO RGD:1315557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tenorio syndrome PMID:25196541|PMID:25741868|PMID:28492532|PMID:34196401 11937347 LOC100973895 olfactory receptor 51A7 gene DOID:0080773 delta beta-thalassemia ISO RGD:1352941 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11937347 LOC100973895 olfactory receptor 51A7 gene DOID:630 genetic disease ISO RGD:1352941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937352 TTC38 tetratricopeptide repeat domain 38 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1602885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11937352 TTC38 tetratricopeptide repeat domain 38 gene DOID:1059 intellectual disability ISO RGD:1602885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11937352 TTC38 tetratricopeptide repeat domain 38 gene DOID:630 genetic disease ISO RGD:1602885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937372 ZNF593 zinc finger protein 593 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1320928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 11937372 ZNF593 zinc finger protein 593 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1320928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 11937372 ZNF593 zinc finger protein 593 gene DOID:630 genetic disease ISO RGD:1320928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937372 ZNF593 zinc finger protein 593 gene DOID:9000217 Stomach Neoplasms ISO RGD:1320928 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11937372 ZNF593 zinc finger protein 593 gene DOID:9000918 Disease Progression ISO RGD:1320928 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11937379 RALGDS ral guanine nucleotide dissociation stimulator gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1351009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11937379 RALGDS ral guanine nucleotide dissociation stimulator gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1351009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11937379 RALGDS ral guanine nucleotide dissociation stimulator gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1351009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11937379 RALGDS ral guanine nucleotide dissociation stimulator gene DOID:0081097 Rafiq syndrome ISO RGD:1351009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11937379 RALGDS ral guanine nucleotide dissociation stimulator gene DOID:1059 intellectual disability ISO RGD:1351009 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11937379 RALGDS ral guanine nucleotide dissociation stimulator gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1351009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11937379 RALGDS ral guanine nucleotide dissociation stimulator gene DOID:3652 Leigh disease ISO RGD:1351009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11937379 RALGDS ral guanine nucleotide dissociation stimulator gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1351009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11937379 RALGDS ral guanine nucleotide dissociation stimulator gene DOID:630 genetic disease ISO RGD:1351009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937404 LOC100978046 gamma-crystallin D gene DOID:0110234 cataract 4 multiple types ISO RGD:735833 D RGD:7240710 20180130 OMIM 11937404 LOC100978046 gamma-crystallin D gene DOID:0110234 cataract 4 multiple types ISO RGD:735833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 4 | ClinVar Annotator: match by term: Cataract 4 multiple types PMID:10521291|PMID:10688888|PMID:10915766|PMID:11371638|PMID:12011157|PMID:12676897|PMID:16446699|PMID:17564961|PMID:17724170|PMID:19382745|PMID:19390652|PMID:19668596|PMID:21827768|PMID:22995991|PMID:25403472|PMID:25741868|PMID:26694549|PMID:28450710|PMID:28474685|PMID:28492532|PMID:9927684 11937404 LOC100978046 gamma-crystallin D gene DOID:0110235 cataract 2 multiple types ISO RGD:10409 D RGD:9068941 20220825 MouseDO OMIM:604307 11937404 LOC100978046 gamma-crystallin D gene DOID:0110260 cataract 7 susceptibility ISO RGD:735833 D RGD:9068941 20200609 RGD DNA:transversion:exon:p.P23T (human) PMID:12676897|REF_RGD_ID:1601016 11937404 LOC100978046 gamma-crystallin D gene DOID:0110986 Joubert Syndrome 17 ISO RGD:735833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 17 PMID:19390652|PMID:22995991|PMID:25741868|PMID:28492532 11937404 LOC100978046 gamma-crystallin D gene DOID:14557 primary pulmonary hypertension ISO RGD:735833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11937404 LOC100978046 gamma-crystallin D gene DOID:630 genetic disease ISO RGD:735833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28166811|PMID:28492532 11937404 LOC100978046 gamma-crystallin D gene DOID:83 cataract ISO RGD:735833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract PMID:12011157|PMID:12676897|PMID:17724170|PMID:21827768|PMID:25403472|PMID:26694549|PMID:28474685|PMID:28492532 11937404 LOC100978046 gamma-crystallin D gene DOID:9001574 Crystalline Aculeiform Cataract ISO RGD:735833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aculeiform cataract PMID:10521291|PMID:10688888|PMID:10704279|PMID:11371638|PMID:12011157|PMID:12676897|PMID:16446699|PMID:17724170|PMID:19382745|PMID:19390652|PMID:19668596|PMID:21827768|PMID:22995991|PMID:25403472|PMID:25741868|PMID:26694549|PMID:27455011|PMID:28166811|PMID:28450710|PMID:28474685|PMID:28492532|PMID:9927684 11937404 LOC100978046 gamma-crystallin D gene DOID:9002189 High Myopia ISO RGD:735833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:28492532 11937404 LOC100978046 gamma-crystallin D gene DOID:9003568 Cataract, Congenital Dominant Non Nuclear ISO RGD:735833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonnuclear polymorphic congenital cataract PMID:12011157|PMID:12676897|PMID:17724170|PMID:21827768|PMID:25403472|PMID:26694549|PMID:28474685|PMID:28492532 11937404 LOC100978046 gamma-crystallin D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11937404 LOC100978046 gamma-crystallin D gene DOID:9005369 Hepatomegaly ISO RGD:735833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 11937411 FBXO36 F-box protein 36 gene DOID:630 genetic disease ISO RGD:1317314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937422 UPF2 UPF2 regulator of nonsense mediated mRNA decay gene DOID:0060041 autism spectrum disorder ISO RGD:1319373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11937422 UPF2 UPF2 regulator of nonsense mediated mRNA decay gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1319373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11937422 UPF2 UPF2 regulator of nonsense mediated mRNA decay gene DOID:630 genetic disease ISO RGD:1319373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937446 MARCHF8 membrane associated ring-CH-type finger 8 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1353860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17068819 11937482 RGS7BP regulator of G protein signaling 7 binding protein gene DOID:630 genetic disease ISO RGD:1604905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937482 RGS7BP regulator of G protein signaling 7 binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11937499 UFC1 ubiquitin-fold modifier conjugating enzyme 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1604819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11937499 UFC1 ubiquitin-fold modifier conjugating enzyme 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1604819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11937499 UFC1 ubiquitin-fold modifier conjugating enzyme 1 gene DOID:630 genetic disease ISO RGD:1604819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937499 UFC1 ubiquitin-fold modifier conjugating enzyme 1 gene DOID:9009223 NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH ISO RGD:1604819 D RGD:7240710 20190315 OMIM 11937499 UFC1 ubiquitin-fold modifier conjugating enzyme 1 gene DOID:9009223 NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH ISO RGD:1604819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity and poor growth PMID:25741868|PMID:27431290|PMID:29868776 11937499 UFC1 ubiquitin-fold modifier conjugating enzyme 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11937509 SRM spermidine synthase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11937509 SRM spermidine synthase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:732806 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11937509 SRM spermidine synthase gene DOID:0111936 immunodeficiency 14 ISO RGD:732806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 11937509 SRM spermidine synthase gene DOID:3910 lung adenocarcinoma ISO RGD:732806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11937509 SRM spermidine synthase gene DOID:630 genetic disease ISO RGD:732806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937509 SRM spermidine synthase gene DOID:9006205 Animal Disease Models ISO RGD:732806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11937509 SRM spermidine synthase gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:732806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 11937520 GFOD2 Gfo/Idh/MocA-like oxidoreductase domain containing 2 gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:1604583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 11937520 GFOD2 Gfo/Idh/MocA-like oxidoreductase domain containing 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1604583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11937520 GFOD2 Gfo/Idh/MocA-like oxidoreductase domain containing 2 gene DOID:630 genetic disease ISO RGD:1604583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937527 ABCB7 ATP binding cassette subfamily B member 7 gene DOID:0050554 X-linked sideroblastic anemia with ataxia ISO RGD:1351480 D RGD:7240710 20180130 OMIM 11937527 ABCB7 ATP binding cassette subfamily B member 7 gene DOID:0050554 X-linked sideroblastic anemia with ataxia ISO RGD:1351480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia PMID:10196363|PMID:11050011|PMID:11843825|PMID:17576681|PMID:22398176|PMID:25741868|PMID:28492532|PMID:4045952|PMID:9536098 11937527 ABCB7 ATP binding cassette subfamily B member 7 gene DOID:0050554 X-linked sideroblastic anemia with ataxia susceptibility ISO RGD:1351480 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.I400M (human) PMID:10196363|REF_RGD_ID:1598600 11937527 ABCB7 ATP binding cassette subfamily B member 7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11937527 ABCB7 ATP binding cassette subfamily B member 7 gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:1351480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked PMID:26242992 11937527 ABCB7 ATP binding cassette subfamily B member 7 gene DOID:12849 autistic disorder ISO RGD:1351480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11937527 ABCB7 ATP binding cassette subfamily B member 7 gene DOID:630 genetic disease ISO RGD:1351480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26242992 11937527 ABCB7 ATP binding cassette subfamily B member 7 gene DOID:8955 sideroblastic anemia ISO RGD:1351480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16892088|PMID:18637800 11937527 ABCB7 ATP binding cassette subfamily B member 7 gene DOID:8955 sideroblastic anemia ISO RGD:1351480 D RGD:9068941 20200609 RGD PMID:18398482|REF_RGD_ID:11038732 11937527 ABCB7 ATP binding cassette subfamily B member 7 gene DOID:9004866 Ataxia ISO RGD:1351480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16892088 11937551 BTAF1 B-TFIID TATA-box binding protein associated factor 1 gene DOID:630 genetic disease ISO RGD:1352187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937599 MTERF1 mitochondrial transcription termination factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11937599 MTERF1 mitochondrial transcription termination factor 1 gene DOID:630 genetic disease ISO RGD:736231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937621 TAF5L TATA-box binding protein associated factor 5 like gene DOID:1540 parathyroid carcinoma ISO RGD:1320985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11937621 TAF5L TATA-box binding protein associated factor 5 like gene DOID:630 genetic disease ISO RGD:1320985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937621 TAF5L TATA-box binding protein associated factor 5 like gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1320985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 11937621 TAF5L TATA-box binding protein associated factor 5 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11937637 ZNF77 zinc finger protein 77 gene DOID:630 genetic disease ISO RGD:1346753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937637 ZNF77 zinc finger protein 77 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11937645 PRSS22 serine protease 22 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1322033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11937645 PRSS22 serine protease 22 gene DOID:10283 prostate cancer ISO RGD:1322033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11937645 PRSS22 serine protease 22 gene DOID:1826 epilepsy ISO RGD:1322033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11937645 PRSS22 serine protease 22 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1322033 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11937645 PRSS22 serine protease 22 gene DOID:630 genetic disease ISO RGD:1322033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937664 GJB3 gap junction protein beta 3 gene DOID:0050467 erythrokeratodermia variabilis ISO RGD:1347813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC PMID:19050930|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9843210 11937664 GJB3 gap junction protein beta 3 gene DOID:0050563 nonsyndromic deafness ISO RGD:1347813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic Deafness PMID:25741868|PMID:28492532 11937664 GJB3 gap junction protein beta 3 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1347813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:10587579 11937664 GJB3 gap junction protein beta 3 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1347813 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs9118) C>G (human) PMID:27354594|REF_RGD_ID:152177496 11937664 GJB3 gap junction protein beta 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1347813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11937664 GJB3 gap junction protein beta 3 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1347813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB3 PMID:19050930|PMID:24033266|PMID:25741868|PMID:28492532 11937664 GJB3 gap junction protein beta 3 gene DOID:0110559 autosomal dominant nonsyndromic deafness 2B ISO RGD:1347813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 2b PMID:16077902|PMID:19050930|PMID:21204020|PMID:23638949|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9843210 11937664 GJB3 gap junction protein beta 3 gene DOID:0111195 erythrokeratodermia variabilis et progressiva 1 ISO RGD:1347813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 | ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1 PMID:10587579|PMID:10594760|PMID:10798362|PMID:10888284|PMID:11175305|PMID:12019212|PMID:12165562|PMID:12648223|PMID:12702148|PMID:15131355|PMID:17567887|PMID:19050930|PMID:19755382|PMID:20981092|PMID:22617145|PMID:24033266|PMID:24498627|PMID:25262649|PMID:25741868|PMID:26467025|PMID:27068579|PMID:27884173|PMID:28492532|PMID:9843209|PMID:9843210 11937664 GJB3 gap junction protein beta 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1347813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant, with peripheral neuropathy PMID:11309368|PMID:12165562|PMID:15276679|PMID:19050930|PMID:19197336|PMID:19755382|PMID:21204020|PMID:22681493|PMID:24913888|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29044474 11937664 GJB3 gap junction protein beta 3 gene DOID:37 skin disease ISO RGD:1347813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16372802 11937664 GJB3 gap junction protein beta 3 gene DOID:3891 placental insufficiency ISO RGD:735535 D RGD:9068941 20200609 RGD PMID:11237463|REF_RGD_ID:12436730 11937664 GJB3 gap junction protein beta 3 gene DOID:4603 epidermolytic hyperkeratosis ISO RGD:1347813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16297190 11937664 GJB3 gap junction protein beta 3 gene DOID:574 peripheral nervous system disease ISO RGD:1347813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11309368 11937664 GJB3 gap junction protein beta 3 gene DOID:630 genetic disease ISO RGD:1347813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 11937664 GJB3 gap junction protein beta 3 gene DOID:9002062 Erythrokeratodermia Variabilis, Autosomal Recessive ISO RGD:1347813 D RGD:9068941 20200609 RGD DNA:missense mutation:CDS:p.L34P (101T>C) (human) PMID:12019212|REF_RGD_ID:12050155 11937664 GJB3 gap junction protein beta 3 gene DOID:9002062 Erythrokeratodermia Variabilis, Autosomal Recessive ISO RGD:1347813 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.V30I (c.G88A) (human) PMID:21564177|REF_RGD_ID:12436733 11937664 GJB3 gap junction protein beta 3 gene DOID:9004538 Hearing Loss ISO RGD:1347813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:11309368|PMID:12165562|PMID:15276679|PMID:19050930|PMID:19197336|PMID:19755382|PMID:21204020|PMID:22681493|PMID:24913888|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29044474 11937664 GJB3 gap junction protein beta 3 gene DOID:9005662 Keratoderma Palmoplantaris Transgrediens ISO RGD:1347813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS PMID:19050930|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9843210 11937664 GJB3 gap junction protein beta 3 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1347813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant 11937664 GJB3 gap junction protein beta 3 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss no_association ISO RGD:1347813 D RGD:9068941 20200609 RGD DNA:missense mutation, SNPs:exon:p.R32W (94C>T), C357C>T, 798C>T (human) PMID:15276679|REF_RGD_ID:12050154 11937664 GJB3 gap junction protein beta 3 gene DOID:9008681 Deafness ISO RGD:1347813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9843210 11937675 SMC5 structural maintenance of chromosomes 5 gene DOID:630 genetic disease ISO RGD:1316718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937675 SMC5 structural maintenance of chromosomes 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11937675 SMC5 structural maintenance of chromosomes 5 gene DOID:9005150 Mosaic Variegated Aneuploidy Syndrome 6 ISO RGD:1316718 D RGD:7240710 20230125 OMIM 11937675 SMC5 structural maintenance of chromosomes 5 gene DOID:9005150 Mosaic Variegated Aneuploidy Syndrome 6 ISO RGD:1316718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Atelis syndrome 2 PMID:36333305 11937707 LOC100991647 interleukin 1 family member 10 gene DOID:0080474 pustular psoriasis 14 ISO RGD:1313781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized pustular psoriasis PMID:19494218|PMID:21792839|PMID:21848462|PMID:22940634|PMID:23698098|PMID:26100510|PMID:28492532 11937707 LOC100991647 interleukin 1 family member 10 gene DOID:289 endometriosis ISO RGD:1313781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometriosis 11937707 LOC100991647 interleukin 1 family member 10 gene DOID:630 genetic disease ISO RGD:1313781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937707 LOC100991647 interleukin 1 family member 10 gene DOID:9007151 Deficiency of Interleukin-1 Receptor Antagonist ISO RGD:1313781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis PMID:19494218|PMID:21792839|PMID:22940634|PMID:23698098|PMID:26100510|PMID:28492532 11937722 SERPINA5 serpin family A member 5 gene DOID:0081063 DICER1 syndrome ISO RGD:1346137 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 11937722 SERPINA5 serpin family A member 5 gene DOID:13580 cholestasis ISO RGD:1346137 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 11937722 SERPINA5 serpin family A member 5 gene DOID:630 genetic disease ISO RGD:1346137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937722 SERPINA5 serpin family A member 5 gene DOID:670 amphetamine abuse ISO RGD:1346137 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11937722 SERPINA5 serpin family A member 5 gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:1346137 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:12139754|REF_RGD_ID:1580299 11937746 LOC100993446 histone H1.8 gene DOID:0111947 immunodeficiency 21 ISO RGD:1347696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 11937746 LOC100993446 histone H1.8 gene DOID:630 genetic disease ISO RGD:1347696 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937746 LOC100993446 histone H1.8 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 11937746 LOC100993446 histone H1.8 gene DOID:9270 alkaptonuria ISO RGD:1347696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11937758 MATCAP2 microtubule associated tyrosine carboxypeptidase 2 gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:1603687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 PMID:28492532 11937758 MATCAP2 microtubule associated tyrosine carboxypeptidase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11937758 MATCAP2 microtubule associated tyrosine carboxypeptidase 2 gene DOID:630 genetic disease ISO RGD:1603687 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937773 ANXA1 annexin A1 gene DOID:0060074 ductal carcinoma in situ ISO RGD:730873 D RGD:9068941 20200609 RGD protein:decreased expression:mammary gland PMID:22323911|REF_RGD_ID:7421537 11937773 ANXA1 annexin A1 gene DOID:0060180 colitis ISO RGD:2118 D RGD:9068941 20200609 RGD protein:increased expression:colon, neutrophil PMID:10489933|REF_RGD_ID:2306920 11937773 ANXA1 annexin A1 gene DOID:0080600 COVID-19 ISO RGD:730873 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11937773 ANXA1 annexin A1 gene DOID:10140 dry eye syndrome ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:23201116|REF_RGD_ID:7421553 11937773 ANXA1 annexin A1 gene DOID:10247 pleurisy ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:15784654|REF_RGD_ID:2306907 11937773 ANXA1 annexin A1 gene DOID:10534 stomach cancer ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:23236538|REF_RGD_ID:7421587 11937773 ANXA1 annexin A1 gene DOID:10763 hypertension ISO RGD:2118 D RGD:9068941 20200609 RGD protein:altered localization:vascular associated smooth muscle cell PMID:16109804|REF_RGD_ID:1599668 11937773 ANXA1 annexin A1 gene DOID:10763 hypertension ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 11937773 ANXA1 annexin A1 gene DOID:12849 autistic disorder ISO RGD:730873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 11937773 ANXA1 annexin A1 gene DOID:13141 uveitis ISO RGD:10164 D RGD:9068941 20200609 RGD PMID:23645879|REF_RGD_ID:7421538 11937773 ANXA1 annexin A1 gene DOID:13141 uveitis ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:21633711|REF_RGD_ID:7421539 11937773 ANXA1 annexin A1 gene DOID:13141 uveitis treatment ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:23645879|REF_RGD_ID:7421538 11937773 ANXA1 annexin A1 gene DOID:1350 paranasal sinus benign neoplasm ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:20970165|REF_RGD_ID:7421559 11937773 ANXA1 annexin A1 gene DOID:1459 hypothyroidism ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:9022675|REF_RGD_ID:2306952 11937773 ANXA1 annexin A1 gene DOID:1749 squamous cell carcinoma ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 11937773 ANXA1 annexin A1 gene DOID:1749 squamous cell carcinoma ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:8919037|REF_RGD_ID:7421562 11937773 ANXA1 annexin A1 gene DOID:1793 pancreatic cancer ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:19173988|REF_RGD_ID:2325722 11937773 ANXA1 annexin A1 gene DOID:1793 pancreatic cancer ISO RGD:730873 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:17974280|REF_RGD_ID:2325723 11937773 ANXA1 annexin A1 gene DOID:2316 brain ischemia ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:1830327|REF_RGD_ID:7421662 11937773 ANXA1 annexin A1 gene DOID:2316 brain ischemia treatment ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:1830327|REF_RGD_ID:7421662 11937773 ANXA1 annexin A1 gene DOID:2671 transitional cell carcinoma severity ISO RGD:2118 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:urinary bladder PMID:17994624|REF_RGD_ID:2306889 11937773 ANXA1 annexin A1 gene DOID:2734 keratosis follicularis ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:8919037|REF_RGD_ID:7421562 11937773 ANXA1 annexin A1 gene DOID:2773 contact dermatitis ISO RGD:10164 D RGD:9068941 20200609 RGD PMID:23267026|REF_RGD_ID:7421573 11937773 ANXA1 annexin A1 gene DOID:2841 asthma ISO RGD:10164 D RGD:9068941 20200609 RGD PMID:22092555|REF_RGD_ID:7421657 11937773 ANXA1 annexin A1 gene DOID:3008 invasive ductal carcinoma ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:18776816|REF_RGD_ID:7421535 11937773 ANXA1 annexin A1 gene DOID:3008 invasive ductal carcinoma treatment ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:19171478|REF_RGD_ID:7421560 11937773 ANXA1 annexin A1 gene DOID:3021 acute kidney failure treatment ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:22101490|REF_RGD_ID:7421583 11937773 ANXA1 annexin A1 gene DOID:305 carcinoma ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 11937773 ANXA1 annexin A1 gene DOID:3069 malignant astrocytoma ISO RGD:730873 D RGD:9068941 20200609 RGD associated with Tuberous Sclerosis;mRNA:increased expression:brain PMID:20133820|REF_RGD_ID:7421564 11937773 ANXA1 annexin A1 gene DOID:326 ischemia ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:17653046|REF_RGD_ID:2306896 11937773 ANXA1 annexin A1 gene DOID:3526 cerebral infarction treatment ISO RGD:2118 D RGD:9068941 20200609 RGD associated with Ischemic Attack, Transient PMID:22617647|REF_RGD_ID:7483559 11937773 ANXA1 annexin A1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 11937773 ANXA1 annexin A1 gene DOID:3770 pulmonary fibrosis ISO RGD:2118 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:9269316|REF_RGD_ID:2306948 11937773 ANXA1 annexin A1 gene DOID:3910 lung adenocarcinoma ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 11937773 ANXA1 annexin A1 gene DOID:4450 renal cell carcinoma ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:14587099|REF_RGD_ID:7421570 11937773 ANXA1 annexin A1 gene DOID:557 kidney disease ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20484890 11937773 ANXA1 annexin A1 gene DOID:630 genetic disease ISO RGD:730873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937773 ANXA1 annexin A1 gene DOID:6498 seborrheic keratosis ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:8919037|REF_RGD_ID:7421562 11937773 ANXA1 annexin A1 gene DOID:76 stomach disease ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15472012 11937773 ANXA1 annexin A1 gene DOID:7998 hyperthyroidism ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:9022675|REF_RGD_ID:2306952 11937773 ANXA1 annexin A1 gene DOID:83 cataract ISO RGD:10164 D RGD:9068941 20200609 RGD DNA, protein:polymorphism: :p.R212I (mouse) PMID:19003866|REF_RGD_ID:7421556 11937773 ANXA1 annexin A1 gene DOID:83 cataract ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:1385581|REF_RGD_ID:7421566 11937773 ANXA1 annexin A1 gene DOID:8893 psoriasis ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:8919037|REF_RGD_ID:7421562 11937773 ANXA1 annexin A1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2118 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:neuron,glial cell PMID:15248295|REF_RGD_ID:10053688 11937773 ANXA1 annexin A1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:17917587|REF_RGD_ID:2306891 11937773 ANXA1 annexin A1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 11937773 ANXA1 annexin A1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942|PMID:22248470 11937773 ANXA1 annexin A1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:10164 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:20308542|PMID:20821804|REF_RGD_ID:7421541|REF_RGD_ID:7421563 11937773 ANXA1 annexin A1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:2118 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:20308542|REF_RGD_ID:7421563 11937773 ANXA1 annexin A1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:2118 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental;protein:increased expression:lung PMID:9514092|REF_RGD_ID:2306939 11937773 ANXA1 annexin A1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20308542 11937773 ANXA1 annexin A1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:730873 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:20821804|REF_RGD_ID:7421541 11937773 ANXA1 annexin A1 gene DOID:9001472 Nasal Polyps ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:20549082|REF_RGD_ID:7421567 11937773 ANXA1 annexin A1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2118 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:8755646|REF_RGD_ID:2306954 11937773 ANXA1 annexin A1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11937773 ANXA1 annexin A1 gene DOID:9002211 Hyperalgesia ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:9222544|REF_RGD_ID:2306950 11937773 ANXA1 annexin A1 gene DOID:9002211 Hyperalgesia ISO RGD:2118 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion PMID:21990306|REF_RGD_ID:7421656 11937773 ANXA1 annexin A1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 11937773 ANXA1 annexin A1 gene DOID:9002457 Experimental Arthritis ISO RGD:10164 D RGD:9068941 20200609 RGD PMID:23267026|REF_RGD_ID:7421573 11937773 ANXA1 annexin A1 gene DOID:9002457 Experimental Arthritis ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:10403283|REF_RGD_ID:2306928 11937773 ANXA1 annexin A1 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:10164 D RGD:9068941 20200609 RGD PMID:23267026|REF_RGD_ID:7421573 11937773 ANXA1 annexin A1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:2118 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:16034371|REF_RGD_ID:2306905 11937773 ANXA1 annexin A1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2118 D RGD:9068941 20200609 RGD protein:increased expression:brain, astrocyte, macrophage PMID:9472682|REF_RGD_ID:2306942 11937773 ANXA1 annexin A1 gene DOID:9004464 Skin Neoplasms ISO RGD:10164 D RGD:9068941 20200609 RGD PMID:22782996|REF_RGD_ID:7421558 11937773 ANXA1 annexin A1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15654357 11937773 ANXA1 annexin A1 gene DOID:9004945 Ocular Toxoplasmosis ISO RGD:10164 D RGD:9068941 20200609 RGD PMID:22740770|REF_RGD_ID:7421536 11937773 ANXA1 annexin A1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:16316942|REF_RGD_ID:2306898 11937773 ANXA1 annexin A1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 11937773 ANXA1 annexin A1 gene DOID:9005372 Inflammation ISO RGD:2118 D RGD:9068941 20200609 RGD protein:increased expression:mast cell granule, cytoplasm PMID:11005211|REF_RGD_ID:7421660 11937773 ANXA1 annexin A1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2118 D RGD:9068941 20200609 RGD protein:increased glycation:respiratory system blood vessel endothelium PMID:11423489|REF_RGD_ID:2306888 11937773 ANXA1 annexin A1 gene DOID:9005941 Rhinosinusitis ISO RGD:730873 D RGD:9068941 20200609 RGD associated with Nasal Polyps PMID:22279949|REF_RGD_ID:7421555 11937773 ANXA1 annexin A1 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:20953576|REF_RGD_ID:7421585 11937773 ANXA1 annexin A1 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:2118 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve PMID:10603033|REF_RGD_ID:2306914 11937773 ANXA1 annexin A1 gene DOID:9006779 Discoid Lupus Erythematosus ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:20701627|REF_RGD_ID:7421565 11937773 ANXA1 annexin A1 gene DOID:9007364 Mouth Neoplasms ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 11937773 ANXA1 annexin A1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:10164 D RGD:9068941 20200609 RGD PMID:22924634|REF_RGD_ID:7421655 11937773 ANXA1 annexin A1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2118 D RGD:9068941 20200609 RGD protein:increased expression:heart, leukocyte PMID:11641252|REF_RGD_ID:2306910 11937773 ANXA1 annexin A1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:22924634|REF_RGD_ID:7421655 11937773 ANXA1 annexin A1 gene DOID:9008110 Blister ISO RGD:730873 D RGD:9068941 20200609 RGD associated with Hypersensitivity, Delayed;protein:increased expression:mononuclear cell PMID:10331485|REF_RGD_ID:7421575 11937773 ANXA1 annexin A1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17405164 11937773 ANXA1 annexin A1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:20353277|REF_RGD_ID:7421540 11937773 ANXA1 annexin A1 gene DOID:9588 encephalitis ISO RGD:10164 D RGD:9068941 20200609 RGD associated with Sepsis PMID:22964301|REF_RGD_ID:7421580 11937856 ELOVL4 ELOVL fatty acid elongase 4 gene DOID:0050817 Stargardt disease ISO RGD:1313773 D RGD:9068941 20220825 MouseDO OMIM:248200 | OMIM:600110 | OMIM:603786 11937856 ELOVL4 ELOVL fatty acid elongase 4 gene DOID:0050952 spastic ataxia ISO RGD:1313772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 11937856 ELOVL4 ELOVL fatty acid elongase 4 gene DOID:0050981 spinocerebellar ataxia type 34 ISO RGD:1313772 D RGD:7240710 20180425 OMIM 11937856 ELOVL4 ELOVL fatty acid elongase 4 gene DOID:0050981 spinocerebellar ataxia type 34 ISO RGD:1313772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 34 PMID:24566826|PMID:25741868|PMID:26010696|PMID:28492532|PMID:28559085|PMID:30065956|PMID:31105016|PMID:31692161|PMID:31750392|PMID:34623043|PMID:5048218 11937856 ELOVL4 ELOVL fatty acid elongase 4 gene DOID:2566 corneal dystrophy ISO RGD:1313772 D RGD:9068941 20200609 RGD PMID:11726641|REF_RGD_ID:1598895 11937856 ELOVL4 ELOVL fatty acid elongase 4 gene DOID:630 genetic disease ISO RGD:1313772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11937856 ELOVL4 ELOVL fatty acid elongase 4 gene DOID:8501 fundus dystrophy ISO RGD:1313772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11138005|PMID:15028284|PMID:23509295|PMID:24833735|PMID:28492532 11937856 ELOVL4 ELOVL fatty acid elongase 4 gene DOID:9000290 Stargardt Disease 3 ISO RGD:1313772 D RGD:7240710 20180130 OMIM 11937856 ELOVL4 ELOVL fatty acid elongase 4 gene DOID:9000290 Stargardt Disease 3 ISO RGD:1313772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stargardt disease 3 PMID:11138005|PMID:15028284|PMID:15557430|PMID:22948568|PMID:23509295|PMID:24833735|PMID:25326635|PMID:25741868|PMID:27116512|PMID:28492532|PMID:33546218|PMID:34073554 11937856 ELOVL4 ELOVL fatty acid elongase 4 gene DOID:9000515 Ichthyosis, Spastic Quadriplegia, and Mental Retardation ISO RGD:1313772 D RGD:7240710 20180130 OMIM 11937856 ELOVL4 ELOVL fatty acid elongase 4 gene DOID:9000515 Ichthyosis, Spastic Quadriplegia, and Mental Retardation ISO RGD:1313772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ichthyosis, spastic quadriplegia, and mental retardation PMID:11138005|PMID:22100072|PMID:23509295|PMID:24833735|PMID:25326635|PMID:25741868|PMID:28492532 11937856 ELOVL4 ELOVL fatty acid elongase 4 gene DOID:9000565 Stargardt Disease 4 ISO RGD:1313772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stargardt Disease, Dominant 11937856 ELOVL4 ELOVL fatty acid elongase 4 gene DOID:9269 maple syrup urine disease ISO RGD:1313772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:16786533|PMID:22593002|PMID:24571530|PMID:28492532 11937866 CCDC90B coiled-coil domain containing 90B gene DOID:1059 intellectual disability ISO RGD:1605354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11937866 CCDC90B coiled-coil domain containing 90B gene DOID:630 genetic disease ISO RGD:1605354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937899 LOC100971669 dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase gene DOID:0110645 long QT syndrome 2 ISO RGD:1345350 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:15280551 11937899 LOC100971669 dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase gene DOID:630 genetic disease ISO RGD:1345350 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937915 EEF1D eukaryotic translation elongation factor 1 delta gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1323465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11937915 EEF1D eukaryotic translation elongation factor 1 delta gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1323465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11937915 EEF1D eukaryotic translation elongation factor 1 delta gene DOID:1059 intellectual disability ISO RGD:1323465 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability PMID:30787422 11937915 EEF1D eukaryotic translation elongation factor 1 delta gene DOID:4621 holoprosencephaly ISO RGD:1323465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11937915 EEF1D eukaryotic translation elongation factor 1 delta gene DOID:630 genetic disease ISO RGD:1323465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937915 EEF1D eukaryotic translation elongation factor 1 delta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323465 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28097321|PMID:30787422 11937973 EEFSEC eukaryotic elongation factor, selenocysteine-tRNA specific gene DOID:0111947 immunodeficiency 21 ISO RGD:1604801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:21670465|PMID:22147895|PMID:23223431|PMID:28492532 11937973 EEFSEC eukaryotic elongation factor, selenocysteine-tRNA specific gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1604801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28166215 11937973 EEFSEC eukaryotic elongation factor, selenocysteine-tRNA specific gene DOID:630 genetic disease ISO RGD:1604801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937973 EEFSEC eukaryotic elongation factor, selenocysteine-tRNA specific gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1604801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:21670465|PMID:22147895|PMID:23223431|PMID:25741868|PMID:26710799|PMID:28492532|PMID:31710708 11937973 EEFSEC eukaryotic elongation factor, selenocysteine-tRNA specific gene DOID:9270 alkaptonuria ISO RGD:1604801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11937987 MCRIP2 MAPK regulated corepressor interacting protein 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1346193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 11937987 MCRIP2 MAPK regulated corepressor interacting protein 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1346193 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11937987 MCRIP2 MAPK regulated corepressor interacting protein 2 gene DOID:1826 epilepsy ISO RGD:1346193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11937987 MCRIP2 MAPK regulated corepressor interacting protein 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1346193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11937987 MCRIP2 MAPK regulated corepressor interacting protein 2 gene DOID:630 genetic disease ISO RGD:1346193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937997 MSN moesin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11937997 MSN moesin gene DOID:0112001 immunodeficiency 50 ISO RGD:732547 D RGD:7240710 20190315 OMIM 11937997 MSN moesin gene DOID:0112001 immunodeficiency 50 ISO RGD:732547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to moesin deficiency PMID:24033266|PMID:25741868|PMID:27405666|PMID:28378256|PMID:28492532|PMID:29556235 11937997 MSN moesin gene DOID:12849 autistic disorder ISO RGD:732547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11937997 MSN moesin gene DOID:630 genetic disease ISO RGD:732547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11937997 MSN moesin gene DOID:676 juvenile rheumatoid arthritis ISO RGD:732547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11937997 MSN moesin gene DOID:8398 osteoarthritis ISO RGD:732547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11937997 MSN moesin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11937997 MSN moesin gene DOID:9007102 Myocardial Ischemia ISO RGD:732547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11938014 EP300 E1A binding protein p300 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1348463 D RGD:9068941 20220121 RGD mRNA:increased expression:lung (human) PMID:30119248|REF_RGD_ID:151347411 11938014 EP300 E1A binding protein p300 gene DOID:0050156 idiopathic pulmonary fibrosis treatment ISO RGD:620036 D RGD:9068941 20220121 RGD PMID:30119248|REF_RGD_ID:151347411 11938014 EP300 E1A binding protein p300 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 11938014 EP300 E1A binding protein p300 gene DOID:0050700 cardiomyopathy ISO RGD:1348463 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle, nucleus (human) PMID:20375365|REF_RGD_ID:7364750 11938014 EP300 E1A binding protein p300 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1348463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11938014 EP300 E1A binding protein p300 gene DOID:0050834 CHARGE syndrome ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hall-Hittner syndrome PMID:29300383 11938014 EP300 E1A binding protein p300 gene DOID:0050902 medulloblastoma ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:26619011 11938014 EP300 E1A binding protein p300 gene DOID:0060319 cardiac arrest ISO RGD:1348463 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus; mRNA:increased expression:blood (human) PMID:19577077|REF_RGD_ID:2312286 11938014 EP300 E1A binding protein p300 gene DOID:0080199 colorectal carcinoma ISO RGD:1348463 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Colorectal carcinoma PMID:15706485|PMID:24476420|PMID:25741868|PMID:28492532 11938014 EP300 E1A binding protein p300 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11938014 EP300 E1A binding protein p300 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1348463 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11938014 EP300 E1A binding protein p300 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 11938014 EP300 E1A binding protein p300 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 11938014 EP300 E1A binding protein p300 gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 PMID:28492532 11938014 EP300 E1A binding protein p300 gene DOID:10283 prostate cancer disease_progression ISO RGD:1348463 D RGD:9068941 20200609 RGD PMID:14633682|REF_RGD_ID:2289907 11938014 EP300 E1A binding protein p300 gene DOID:1059 intellectual disability ISO RGD:1348463 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:24728327|PMID:25741868|PMID:27465822|PMID:27648933|PMID:28492532|PMID:32827181|PMID:33644862 11938014 EP300 E1A binding protein p300 gene DOID:10652 Alzheimer's disease ISO RGD:1348463 D RGD:9068941 20200609 RGD mRNA:increased expression:temporal cortex (human) PMID:23585551|REF_RGD_ID:7327146 11938014 EP300 E1A binding protein p300 gene DOID:10763 hypertension ISO RGD:620036 D RGD:9068941 20200609 RGD protein:increased expression:left ventricle (rat) PMID:18292809|REF_RGD_ID:2312265 11938014 EP300 E1A binding protein p300 gene DOID:10907 microcephaly ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11938014 EP300 E1A binding protein p300 gene DOID:11054 urinary bladder cancer ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 11938014 EP300 E1A binding protein p300 gene DOID:1107 esophageal carcinoma ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus PMID:26619011 11938014 EP300 E1A binding protein p300 gene DOID:114 heart disease ISO RGD:620036 D RGD:9068941 20200609 RGD associated with Hypertension; protein:increased expression:heart (rat) PMID:18697823|REF_RGD_ID:2311717 11938014 EP300 E1A binding protein p300 gene DOID:12858 Huntington's disease ISO RGD:1552027 D RGD:9068941 20200609 RGD PMID:12586550|REF_RGD_ID:13432192 11938014 EP300 E1A binding protein p300 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1348463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:28492532 11938014 EP300 E1A binding protein p300 gene DOID:1520 colon carcinoma ISO RGD:1348463 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma PMID:10700188 11938014 EP300 E1A binding protein p300 gene DOID:1749 squamous cell carcinoma ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 11938014 EP300 E1A binding protein p300 gene DOID:1909 melanoma ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23698071 11938014 EP300 E1A binding protein p300 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1348463 D RGD:7240710 20180130 OMIM 11938014 EP300 E1A binding protein p300 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:10700188|PMID:15706485|PMID:16199547|PMID:17299436|PMID:18414213|PMID:18792986|PMID:19353645|PMID:20014264|PMID:20301699|PMID:21679367|PMID:24033266|PMID:24352918|PMID:24476420|PMID:24728327|PMID:25326635|PMID:25712426|PMID:25741868|PMID:26486927|PMID:27159028|PMID:27465822|PMID:27648933|PMID:28166811|PMID:28492532|PMID:29133209|PMID:29300383|PMID:29706646|PMID:30076641|PMID:32860008 11938014 EP300 E1A binding protein p300 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1348463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:10700188|PMID:15706485|PMID:17299436|PMID:18414213|PMID:18792986|PMID:19353645|PMID:20014264|PMID:20301699|PMID:21679367|PMID:24033266|PMID:24352918|PMID:24381114|PMID:24476420|PMID:24728327|PMID:25326635|PMID:25712426|PMID:25741868|PMID:27159028|PMID:27465822|PMID:27648933|PMID:28166811|PMID:28492532|PMID:28523540|PMID:29133209|PMID:29300383|PMID:29460469|PMID:29706646|PMID:30143558|PMID:32827181|PMID:32860008|PMID:33043588|PMID:33644862 11938014 EP300 E1A binding protein p300 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1348463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:10700188|PMID:15706485|PMID:16199547|PMID:17299436|PMID:17576681|PMID:18414213|PMID:18792986|PMID:19353645|PMID:20014264|PMID:20301699|PMID:21679367|PMID:24033266|PMID:24352918|PMID:24381114|PMID:24476420|PMID:24728327|PMID:25326635|PMID:25712426|PMID:25741868|PMID:26486927|PMID:27159028|PMID:27465822|PMID:27648933|PMID:28492532|PMID:28523540|PMID:29133209|PMID:29300383|PMID:29460469|PMID:29706646|PMID:30076641|PMID:30143558|PMID:32827181|PMID:32860008|PMID:33043588|PMID:33644862|PMID:9536098 11938014 EP300 E1A binding protein p300 gene DOID:224 transient cerebral ischemia ISO RGD:620036 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebrum, ipsilateral side (rat) PMID:22196858|REF_RGD_ID:7349341 11938014 EP300 E1A binding protein p300 gene DOID:2671 transitional cell carcinoma ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:26619011 11938014 EP300 E1A binding protein p300 gene DOID:2920 membranoproliferative glomerulonephritis treatment ISO RGD:620036 D RGD:9068941 20200609 RGD PMID:24344329|REF_RGD_ID:9588308 11938014 EP300 E1A binding protein p300 gene DOID:2921 glomerulonephritis ISO RGD:1348463 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus, renal tubule (human) PMID:17125594|REF_RGD_ID:7327154 11938014 EP300 E1A binding protein p300 gene DOID:3459 breast carcinoma ISO RGD:1348463 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:12725419|REF_RGD_ID:2289908 11938014 EP300 E1A binding protein p300 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17965222|PMID:25151357 11938014 EP300 E1A binding protein p300 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:620036 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:24488106|REF_RGD_ID:9588310 11938014 EP300 E1A binding protein p300 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:26619011 11938014 EP300 E1A binding protein p300 gene DOID:3910 lung adenocarcinoma ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 11938014 EP300 E1A binding protein p300 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1348463 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:28551630|REF_RGD_ID:15036804 11938014 EP300 E1A binding protein p300 gene DOID:4467 clear cell renal cell carcinoma severity ISO RGD:1348463 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney, tumor (human) PMID:23029358|REF_RGD_ID:7296925 11938014 EP300 E1A binding protein p300 gene DOID:5409 lung small cell carcinoma ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941188 11938014 EP300 E1A binding protein p300 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:26619011 11938014 EP300 E1A binding protein p300 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11938014 EP300 E1A binding protein p300 gene DOID:6000 congestive heart failure ISO RGD:1348463 D RGD:9068941 20200609 RGD PMID:12724418|REF_RGD_ID:2312280 11938014 EP300 E1A binding protein p300 gene DOID:630 genetic disease ISO RGD:1348463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11331617|PMID:17299436|PMID:18792986|PMID:21679367|PMID:24352918|PMID:24728327|PMID:25741868|PMID:27465822|PMID:27648933|PMID:27964710|PMID:28492532|PMID:29133209 11938014 EP300 E1A binding protein p300 gene DOID:684 hepatocellular carcinoma ISO RGD:620036 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:17083329|REF_RGD_ID:2312274 11938014 EP300 E1A binding protein p300 gene DOID:687 hepatoblastoma ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 11938014 EP300 E1A binding protein p300 gene DOID:8947 diabetic retinopathy ISO RGD:620036 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21885871|REF_RGD_ID:7349382 11938014 EP300 E1A binding protein p300 gene DOID:9000493 Menke-Hennekam Syndrome 2 ISO RGD:1348463 D RGD:7240710 20190315 OMIM 11938014 EP300 E1A binding protein p300 gene DOID:9000493 Menke-Hennekam Syndrome 2 ISO RGD:1348463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Menke-Hennekam syndrome 2 PMID:18414213|PMID:24381114|PMID:24728327|PMID:25741868|PMID:27465822|PMID:28492532|PMID:29460469|PMID:30143558|PMID:32851286 11938014 EP300 E1A binding protein p300 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:25741868 11938014 EP300 E1A binding protein p300 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1348463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant PMID:28492532 11938014 EP300 E1A binding protein p300 gene DOID:9002165 Diabetic Nephropathies ISO RGD:620036 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:kidney (rat) PMID:19268536|REF_RGD_ID:2311716 11938014 EP300 E1A binding protein p300 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:620036 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19268536|REF_RGD_ID:2311716 11938014 EP300 E1A binding protein p300 gene DOID:9002211 Hyperalgesia ISO RGD:620036 D RGD:9068941 20200609 RGD PMID:25263804|REF_RGD_ID:9588307 11938014 EP300 E1A binding protein p300 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix PMID:26619011 11938014 EP300 E1A binding protein p300 gene DOID:9003748 Thumb Deformity ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thumb deformity PMID:25741868 11938014 EP300 E1A binding protein p300 gene DOID:9003936 Cardiomegaly ISO RGD:620036 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA:increased expression:heart left ventricle (rat) PMID:23211718|REF_RGD_ID:7327187 11938014 EP300 E1A binding protein p300 gene DOID:9004009 Reperfusion Injury ISO RGD:620036 D RGD:9068941 20200609 RGD retina; protein:altered localization:Hsp70, promoter (rat) PMID:22143029|REF_RGD_ID:5686888 11938014 EP300 E1A binding protein p300 gene DOID:9004009 Reperfusion Injury treatment ISO RGD:620036 D RGD:9068941 20200609 RGD retina PMID:22143029|REF_RGD_ID:5686888 11938014 EP300 E1A binding protein p300 gene DOID:9004226 Hittner Hirsch Kreh Syndrome ISO RGD:1348463 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome PMID:29300383 11938014 EP300 E1A binding protein p300 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11938014 EP300 E1A binding protein p300 gene DOID:9004484 Sepsis ISO RGD:620036 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:muscle part of extensor digitorum longus (rat) PMID:20538901|REF_RGD_ID:7364733 11938014 EP300 E1A binding protein p300 gene DOID:9004756 Brain Hypoxia ISO RGD:620036 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hippocampus (rat) PMID:19103185|REF_RGD_ID:2311713 11938014 EP300 E1A binding protein p300 gene DOID:9004974 Painful Neuropathy ISO RGD:620036 D RGD:9068941 20200609 RGD mRNA:increased expression:lumbar spinal cord (rat) PMID:23176208|REF_RGD_ID:7327202 11938014 EP300 E1A binding protein p300 gene DOID:9004974 Painful Neuropathy treatment ISO RGD:620036 D RGD:9068941 20200609 RGD PMID:23176208|REF_RGD_ID:7327202 11938014 EP300 E1A binding protein p300 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620036 D RGD:9068941 20200609 RGD PMID:18413674|REF_RGD_ID:2312263 11938014 EP300 E1A binding protein p300 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620036 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (rat) PMID:18657544|REF_RGD_ID:2312287 11938014 EP300 E1A binding protein p300 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:620036 D RGD:9068941 20200609 RGD PMID:22228707|REF_RGD_ID:7296926 11938014 EP300 E1A binding protein p300 gene DOID:9005930 Endotoxemia ISO RGD:620036 D RGD:9068941 20200609 RGD associated with Kidney Reperfusion Injury; protein:altered localization:kidney (rat) PMID:23936185|REF_RGD_ID:7257563 11938014 EP300 E1A binding protein p300 gene DOID:9005988 Multicystic Dysplastic Kidney ISO RGD:1348463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multicystic dysplastic kidney PMID:25741868|PMID:28492532|PMID:30143558 11938014 EP300 E1A binding protein p300 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:620036 D RGD:9068941 20200609 RGD protein:altered localization:kidney (rat) PMID:23936185|REF_RGD_ID:7257563 11938014 EP300 E1A binding protein p300 gene DOID:9007159 Nervous System Lead Poisoning ISO RGD:620036 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:24291742|REF_RGD_ID:9588309 11938014 EP300 E1A binding protein p300 gene DOID:9007653 Multiple Abnormalities ISO RGD:1348463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies PMID:18792986|PMID:21679367|PMID:24352918|PMID:25741868|PMID:27465822|PMID:28492532|PMID:29133209 11938014 EP300 E1A binding protein p300 gene DOID:9007661 Dwarfism ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11938014 EP300 E1A binding protein p300 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 11938014 EP300 E1A binding protein p300 gene DOID:9008091 Optic Nerve Injuries ISO RGD:1348463 D RGD:9068941 20200609 RGD human gene in rat model PMID:21705428|REF_RGD_ID:7349392 11938014 EP300 E1A binding protein p300 gene DOID:9008091 Optic Nerve Injuries ISO RGD:620036 D RGD:9068941 20200609 RGD protein:decreased expression:retinal ganglion cell layer (rat) PMID:21705428|REF_RGD_ID:7349392 11938014 EP300 E1A binding protein p300 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1348463 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 11938014 EP300 E1A binding protein p300 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26921506 11938014 EP300 E1A binding protein p300 gene DOID:9008939 Breast Neoplasms ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26229107 11938014 EP300 E1A binding protein p300 gene DOID:9074 systemic lupus erythematosus ISO RGD:1552027 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 11938014 EP300 E1A binding protein p300 gene DOID:9256 colorectal cancer ISO RGD:1348463 D RGD:7240710 20200226 OMIM 11938014 EP300 E1A binding protein p300 gene DOID:9256 colorectal cancer ISO RGD:1348463 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:15706485|PMID:18414213|PMID:24476420|PMID:24728327|PMID:25741868|PMID:26486927|PMID:27648933|PMID:28166811|PMID:28492532|PMID:29133209 11938014 EP300 E1A binding protein p300 gene DOID:9256 colorectal cancer ISO RGD:1348463 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:15706485|PMID:18414213|PMID:24476420|PMID:24728327|PMID:25741868|PMID:27648933|PMID:28492532|PMID:29133209 11938014 EP300 E1A binding protein p300 gene DOID:9256 colorectal cancer ISO RGD:1348463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:15706485|PMID:18414213|PMID:24476420|PMID:24728327|PMID:25741868|PMID:27648933|PMID:28492532|PMID:29133209|PMID:30143558 11938014 EP300 E1A binding protein p300 gene DOID:9256 colorectal cancer ISO RGD:1348463 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:15706485|PMID:18414213|PMID:24476420|PMID:24728327|PMID:25741868|PMID:28492532|PMID:30143558 11938014 EP300 E1A binding protein p300 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1552027 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:renal glomerulus (mouse) PMID:23737551|REF_RGD_ID:7257568 11938014 EP300 E1A binding protein p300 gene DOID:9970 obesity ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26441656 11938014 Ep300 E1A binding protein p300 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1552027 D RGD:9068941 20200609 RGD PMID:18351623|REF_RGD_ID:2312288 11938070 RALA RAS like proto-oncogene A gene DOID:1059 intellectual disability ISO RGD:1354223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:11701921|PMID:15950903|PMID:15980073|PMID:25741868|PMID:28492532|PMID:30500825|PMID:30761613 11938070 RALA RAS like proto-oncogene A gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1354223 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:10441570|PMID:15739154|PMID:18000979|PMID:20672375|PMID:24736735|PMID:28492532|PMID:29236091 11938070 RALA RAS like proto-oncogene A gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:1354223 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (human) PMID:29113235|REF_RGD_ID:14394418 11938070 RALA RAS like proto-oncogene A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1354223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11938070 RALA RAS like proto-oncogene A gene DOID:630 genetic disease ISO RGD:1354223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11701921|PMID:15950903|PMID:15980073|PMID:25741868|PMID:28492532|PMID:30500825|PMID:30761613 11938070 RALA RAS like proto-oncogene A gene DOID:9008002 HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME ISO RGD:1354223 D RGD:7240710 20210623 OMIM 11938070 RALA RAS like proto-oncogene A gene DOID:9008002 HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME ISO RGD:1354223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hiatt-Neu-Cooper neurodevelopmental syndrome PMID:11701921|PMID:15950903|PMID:15980073|PMID:25741868|PMID:28492532|PMID:30500825|PMID:30761613 11938078 SLC10A3 solute carrier family 10 member 3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1354490 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11938078 SLC10A3 solute carrier family 10 member 3 gene DOID:0050476 Barth syndrome ISO RGD:1354490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11938078 SLC10A3 solute carrier family 10 member 3 gene DOID:0050800 creatine transporter deficiency ISO RGD:1354490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11938078 SLC10A3 solute carrier family 10 member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11938078 SLC10A3 solute carrier family 10 member 3 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1354490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 11938078 SLC10A3 solute carrier family 10 member 3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1354490 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11938078 SLC10A3 solute carrier family 10 member 3 gene DOID:10588 adrenoleukodystrophy ISO RGD:1354490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11938078 SLC10A3 solute carrier family 10 member 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1354490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11938078 SLC10A3 solute carrier family 10 member 3 gene DOID:12849 autistic disorder ISO RGD:1354490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11938078 SLC10A3 solute carrier family 10 member 3 gene DOID:13628 favism ISO RGD:1354490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11938078 SLC10A3 solute carrier family 10 member 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1354490 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11938078 SLC10A3 solute carrier family 10 member 3 gene DOID:607 paraplegia ISO RGD:1354490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11938078 SLC10A3 solute carrier family 10 member 3 gene DOID:630 genetic disease ISO RGD:1354490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11938078 SLC10A3 solute carrier family 10 member 3 gene DOID:9002720 Splenomegaly ISO RGD:1354490 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11938107 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0050459 hyperphosphatemia ISO RGD:1315063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17710231 11938107 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11938107 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 11938107 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11938107 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11938107 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11938107 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11938107 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 11938107 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0111063 hyperphosphatemic familial tumoral calcinosis ISO RGD:1315063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome 11938107 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0111112 nephronophthisis 1 ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 11938107 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0111295 generalized epilepsy with febrile seizures plus 7 ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11938107 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11938107 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:12712 nephronophthisis ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 11938107 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial neonatal seizures PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11938107 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:182 calcinosis ISO RGD:1315063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17710231 11938107 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:1826 epilepsy ISO RGD:1315063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 11938107 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:630 genetic disease ISO RGD:1315063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11938107 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11938107 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1315063 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34520102 11938107 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1315063 D RGD:7240710 20190508 OMIM 11938107 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1315063 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:13774168|PMID:15133511|PMID:15599692|PMID:15687324|PMID:16528452|PMID:16940445|PMID:17311862|PMID:17351710|PMID:17576681|PMID:18322299|PMID:18618993|PMID:18982401|PMID:20358599|PMID:21347749|PMID:24668887|PMID:25326635|PMID:25351881|PMID:25741868|PMID:26337219|PMID:27164190|PMID:27867679|PMID:28492532|PMID:3839626|PMID:3998061|PMID:8338191|PMID:9536098 11938122 SLC7A13 solute carrier family 7 member 13 gene DOID:630 genetic disease ISO RGD:1323193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11938130 GPR27 G protein-coupled receptor 27 gene DOID:1790 malignant mesothelioma ISO RGD:733557 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 11938130 GPR27 G protein-coupled receptor 27 gene DOID:630 genetic disease ISO RGD:733557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11938134 RILP Rab interacting lysosomal protein gene DOID:630 genetic disease ISO RGD:1317025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11938146 RETREG3 reticulophagy regulator family member 3 gene DOID:630 genetic disease ISO RGD:1601713 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11938174 OLAH oleoyl-ACP hydrolase gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1352519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11938174 OLAH oleoyl-ACP hydrolase gene DOID:0080600 COVID-19 ISO RGD:1352519 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11938174 OLAH oleoyl-ACP hydrolase gene DOID:630 genetic disease ISO RGD:1352519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11938191 DTX2 deltex E3 ubiquitin ligase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322389 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11938191 DTX2 deltex E3 ubiquitin ligase 2 gene DOID:630 genetic disease ISO RGD:1322389 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11938191 DTX2 deltex E3 ubiquitin ligase 2 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1322389 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 11938191 DTX2 deltex E3 ubiquitin ligase 2 gene DOID:9007502 Brain Neoplasms ISO RGD:1322389 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 11938193 SLC25A46 solute carrier family 25 member 46 gene DOID:0050952 spastic ataxia ISO RGD:1606754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 11938193 SLC25A46 solute carrier family 25 member 46 gene DOID:0080068 Charcot-Marie-Tooth disease type 6 ISO RGD:1332229 D RGD:9068941 20220825 MouseDO OMIM:601152 | OMIM:616505 11938193 SLC25A46 solute carrier family 25 member 46 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606754 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11938193 SLC25A46 solute carrier family 25 member 46 gene DOID:0112330 pontocerebellar hypoplasia type 1E ISO RGD:1606754 D RGD:7240710 20210526 OMIM 11938193 SLC25A46 solute carrier family 25 member 46 gene DOID:0112330 pontocerebellar hypoplasia type 1E ISO RGD:1606754 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1E PMID:25741868|PMID:26168012|PMID:27390132|PMID:27543974|PMID:28492532|PMID:28637197|PMID:28653766|PMID:8147499 11938193 SLC25A46 solute carrier family 25 member 46 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1606754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:28492532 11938193 SLC25A46 solute carrier family 25 member 46 gene DOID:5723 optic atrophy ISO RGD:1606754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26168012 11938193 SLC25A46 solute carrier family 25 member 46 gene DOID:630 genetic disease ISO RGD:1606754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26168012|PMID:26951855|PMID:27543974|PMID:28369803|PMID:28492532|PMID:28558379|PMID:32259769|PMID:33841295|PMID:9536098 11938193 SLC25A46 solute carrier family 25 member 46 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11938193 SLC25A46 solute carrier family 25 member 46 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606754 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11938193 SLC25A46 solute carrier family 25 member 46 gene DOID:9008547 Charcot-Marie-Tooth Disease Type 6B ISO RGD:1606754 D RGD:7240710 20190911 OMIM 11938193 SLC25A46 solute carrier family 25 member 46 gene DOID:9008547 Charcot-Marie-Tooth Disease Type 6B ISO RGD:1606754 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:26168012|PMID:26951855|PMID:27430653|PMID:27543974|PMID:28369803|PMID:28492532|PMID:28558379|PMID:28653766|PMID:31607746|PMID:32259769|PMID:33369814|PMID:33816684|PMID:33841295|PMID:9536098 11938208 ATP8B2 ATPase phospholipid transporting 8B2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1318635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11938208 ATP8B2 ATPase phospholipid transporting 8B2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1318635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11938208 ATP8B2 ATPase phospholipid transporting 8B2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1318635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11938208 ATP8B2 ATPase phospholipid transporting 8B2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1318635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 11938208 ATP8B2 ATPase phospholipid transporting 8B2 gene DOID:1540 parathyroid carcinoma ISO RGD:1318635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11938208 ATP8B2 ATPase phospholipid transporting 8B2 gene DOID:5812 MHC class II deficiency ISO RGD:1318635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11938208 ATP8B2 ATPase phospholipid transporting 8B2 gene DOID:630 genetic disease ISO RGD:1318635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11938208 ATP8B2 ATPase phospholipid transporting 8B2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11938244 OSCP1 organic solute carrier partner 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11938244 OSCP1 organic solute carrier partner 1 gene DOID:630 genetic disease ISO RGD:1606165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11938268 GPR37L1 G protein-coupled receptor 37 like 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11938268 GPR37L1 G protein-coupled receptor 37 like 1 gene DOID:13938 amenorrhea ISO RGD:1606828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11938268 GPR37L1 G protein-coupled receptor 37 like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11938268 GPR37L1 G protein-coupled receptor 37 like 1 gene DOID:630 genetic disease ISO RGD:1606828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11938268 GPR37L1 G protein-coupled receptor 37 like 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606828 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11938268 GPR37L1 G protein-coupled receptor 37 like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11938274 KCNC2 potassium voltage-gated channel subfamily C member 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736950 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11938274 KCNC2 potassium voltage-gated channel subfamily C member 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736950 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 11938274 KCNC2 potassium voltage-gated channel subfamily C member 2 gene DOID:1826 epilepsy susceptibility ISO RGD:736951 D RGD:9068941 20200609 RGD PMID:11124984|REF_RGD_ID:9831375 11938274 KCNC2 potassium voltage-gated channel subfamily C member 2 gene DOID:3068 glioblastoma ISO RGD:736950 D RGD:9068941 20200609 RGD mRNA:splice variant (human) PMID:18474104|REF_RGD_ID:9686067 11938274 KCNC2 potassium voltage-gated channel subfamily C member 2 gene DOID:630 genetic disease ISO RGD:736950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11938274 KCNC2 potassium voltage-gated channel subfamily C member 2 gene DOID:9005278 Developmental and Epileptic Encephalopathy 103 ISO RGD:736950 D RGD:7240710 20220629 OMIM 11938274 KCNC2 potassium voltage-gated channel subfamily C member 2 gene DOID:9005278 Developmental and Epileptic Encephalopathy 103 ISO RGD:736950 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 103 PMID:25741868|PMID:28492532|PMID:31972370|PMID:32392612|PMID:34448338|PMID:35314505 11938320 CBLN4 cerebellin 4 precursor gene DOID:630 genetic disease ISO RGD:1346675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11938327 ZNF185 zinc finger protein 185 with LIM domain gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1352809 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11938327 ZNF185 zinc finger protein 185 with LIM domain gene DOID:0050476 Barth syndrome ISO RGD:1352809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11938327 ZNF185 zinc finger protein 185 with LIM domain gene DOID:0050800 creatine transporter deficiency ISO RGD:1352809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11938327 ZNF185 zinc finger protein 185 with LIM domain gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11938327 ZNF185 zinc finger protein 185 with LIM domain gene DOID:10588 adrenoleukodystrophy ISO RGD:1352809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11938327 ZNF185 zinc finger protein 185 with LIM domain gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1352809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11938327 ZNF185 zinc finger protein 185 with LIM domain gene DOID:12849 autistic disorder ISO RGD:1352809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11938327 ZNF185 zinc finger protein 185 with LIM domain gene DOID:13628 favism ISO RGD:1352809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11938327 ZNF185 zinc finger protein 185 with LIM domain gene DOID:2729 dyskeratosis congenita ISO RGD:1352809 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11938327 ZNF185 zinc finger protein 185 with LIM domain gene DOID:607 paraplegia ISO RGD:1352809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11938327 ZNF185 zinc finger protein 185 with LIM domain gene DOID:630 genetic disease ISO RGD:1352809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11938379 LIPE lipase E, hormone sensitive type gene DOID:0050440 familial partial lipodystrophy ISO RGD:737132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11938379 LIPE lipase E, hormone sensitive type gene DOID:0070206 familial partial lipodystrophy type 6 ISO RGD:737132 D RGD:7240710 20180912 OMIM 11938379 LIPE lipase E, hormone sensitive type gene DOID:0070206 familial partial lipodystrophy type 6 ISO RGD:737132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: LIPE-related familial partial lipodystrophy PMID:25741868 11938379 LIPE lipase E, hormone sensitive type gene DOID:10763 hypertension ISO RGD:737132 D RGD:9068941 20200609 RGD gestational hypertension;DNA:polymorphism:promoter:-60C>G PMID:17318300|REF_RGD_ID:1625026 11938379 LIPE lipase E, hormone sensitive type gene DOID:114 heart disease ISO RGD:3010 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18413675|REF_RGD_ID:2313583 11938379 LIPE lipase E, hormone sensitive type gene DOID:1339 Diamond-Blackfan anemia ISO RGD:737132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11938379 LIPE lipase E, hormone sensitive type gene DOID:1342 congenital hypoplastic anemia ISO RGD:737132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11938379 LIPE lipase E, hormone sensitive type gene DOID:2340 craniosynostosis ISO RGD:737132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11938379 LIPE lipase E, hormone sensitive type gene DOID:2349 arteriosclerosis ISO RGD:3010 D RGD:9068941 20200609 RGD PMID:10064727|REF_RGD_ID:1581868 11938379 LIPE lipase E, hormone sensitive type gene DOID:2349 arteriosclerosis ISO RGD:737132 D RGD:9068941 20200609 RGD PMID:10729384|REF_RGD_ID:1581867 11938379 LIPE lipase E, hormone sensitive type gene DOID:5419 schizophrenia ISO RGD:737132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11938379 LIPE lipase E, hormone sensitive type gene DOID:630 genetic disease ISO RGD:737132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11938379 LIPE lipase E, hormone sensitive type gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:737132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11938379 LIPE lipase E, hormone sensitive type gene DOID:9006599 Hypertriglyceridemia ISO RGD:3010 D RGD:9068941 20200609 RGD PMID:11016888|REF_RGD_ID:2313581 11938379 LIPE lipase E, hormone sensitive type gene DOID:9006646 Metabolic Syndrome ISO RGD:10872 D RGD:9068941 20230427 RGD mRNA:increased expression:liver (mouse) PMID:29684438|REF_RGD_ID:329333017 11938379 LIPE lipase E, hormone sensitive type gene DOID:9269 maple syrup urine disease ISO RGD:737132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11938379 LIPE lipase E, hormone sensitive type gene DOID:9352 type 2 diabetes mellitus ISO RGD:737132 D RGD:9068941 20200609 RGD mRNA:decreased expression:subcutaneous adipose tissue PMID:15609025|REF_RGD_ID:2313584 11938379 LIPE lipase E, hormone sensitive type gene DOID:9970 obesity ISO RGD:3010 D RGD:9068941 20200609 RGD mRNA:decreased expression:white fat PMID:17712951|REF_RGD_ID:2313580 11938393 PDE10A phosphodiesterase 10A gene DOID:0081292 traumatic brain injury ISO RGD:68434 D RGD:9068941 20200609 RGD PMID:29215295|REF_RGD_ID:13513923 11938393 PDE10A phosphodiesterase 10A gene DOID:630 genetic disease ISO RGD:68649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11938393 PDE10A phosphodiesterase 10A gene DOID:9004996 Infantile-Onset Limb and Orofacial Dyskinesia ISO RGD:68649 D RGD:7240710 20190315 OMIM 11938393 PDE10A phosphodiesterase 10A gene DOID:9004996 Infantile-Onset Limb and Orofacial Dyskinesia ISO RGD:68649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskinesia, limb and orofacial, infantile-onset PMID:25741868|PMID:27058446|PMID:28492532|PMID:29159890|PMID:32581362 11938393 PDE10A phosphodiesterase 10A gene DOID:9005156 Striatal Degeneration, Autosomal Dominant 2 ISO RGD:68649 D RGD:7240710 20190315 OMIM 11938393 PDE10A phosphodiesterase 10A gene DOID:9005156 Striatal Degeneration, Autosomal Dominant 2 ISO RGD:68649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Striatal degeneration, autosomal dominant 2 PMID:25741868|PMID:27058447|PMID:28492532|PMID:29159890|PMID:29165877 11938393 PDE10A phosphodiesterase 10A gene DOID:9005603 Muscle Hypotonia ISO RGD:68649 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:27058446|PMID:32581362 11938393 PDE10A phosphodiesterase 10A gene DOID:9008086 Developmental Disabilities ISO RGD:68649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:27058446|PMID:32581362 11938461 LOC100978157 uncharacterized LOC100978157 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:16552593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11938461 LOC100978157 uncharacterized LOC100978157 gene DOID:12849 autistic disorder ISO RGD:16552593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11938462 SRSF12 serine and arginine rich splicing factor 12 gene DOID:630 genetic disease ISO RGD:1606967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11938471 PAK5 p21 (RAC1) activated kinase 5 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1323766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 11938471 PAK5 p21 (RAC1) activated kinase 5 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:1323766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 11938471 PAK5 p21 (RAC1) activated kinase 5 gene DOID:630 genetic disease ISO RGD:1323766 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11938471 PAK5 p21 (RAC1) activated kinase 5 gene DOID:9245 Alagille syndrome ISO RGD:1323766 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:28492532|PMID:32733715 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16497974 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:0050685 small cell carcinoma ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15981204 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:737482 D RGD:9068941 20220721 RGD protein:increased expression:oral cavity (human) PMID:20967871|REF_RGD_ID:152999012 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:0060074 ductal carcinoma in situ disease_progression ISO RGD:737482 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:16421596|REF_RGD_ID:2293106 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:0060108 brain glioma exacerbates ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:brain (human) PMID:31964418|REF_RGD_ID:153344516 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27770503 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:0080365 endometrial hyperplasia ISO RGD:737482 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:16803539|REF_RGD_ID:2298940 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:0080600 COVID-19 ISO RGD:737482 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:70499 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:12604914|REF_RGD_ID:2293139 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:10283 prostate cancer ISO RGD:737482 D RGD:9068941 20200609 RGD PMID:17804712|REF_RGD_ID:2293100 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:10283 prostate cancer severity ISO RGD:737482 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:18336887|REF_RGD_ID:2293091 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:11054 urinary bladder cancer ISO RGD:732772 D RGD:9068941 20200609 RGD PMID:18089718|REF_RGD_ID:2293094 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:737482 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:17905101|REF_RGD_ID:2293096 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:1749 squamous cell carcinoma ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:2671 transitional cell carcinoma ISO RGD:737482 D RGD:9068941 20200609 RGD PMID:18172282|REF_RGD_ID:2293093 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:2671 transitional cell carcinoma ISO RGD:737482 D RGD:9068941 20200609 RGD mRNA:increased expression:urine PMID:17559031|REF_RGD_ID:2298937 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:737482 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:17828507|REF_RGD_ID:2293099 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:289 endometriosis ISO RGD:70499 D RGD:9068941 20200609 RGD PMID:18386577|REF_RGD_ID:2293122 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:2913 acute pancreatitis ISO RGD:70499 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:pancreas PMID:19726343|REF_RGD_ID:9586043 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:299 adenocarcinoma ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:3070 high grade glioma ISO RGD:70499 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17701349|REF_RGD_ID:2293131 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:3275 thymoma ameliorates ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:thymus (human) PMID:31964418|REF_RGD_ID:153344516 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:3459 breast carcinoma exacerbates ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:breast (human) PMID:31964418|REF_RGD_ID:153344516 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:lung (human) PMID:31964418|REF_RGD_ID:153344516 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:3908 lung non-small cell carcinoma ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16382892 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:lung (human) PMID:31964418|REF_RGD_ID:153344516 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:lung (human) PMID:31964418|REF_RGD_ID:153344516 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:3948 adrenocortical carcinoma exacerbates ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:adrenal gland (human) PMID:31964418|REF_RGD_ID:153344516 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:3963 thyroid gland carcinoma exacerbates ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:thyroid gland (human) PMID:31964418|REF_RGD_ID:153344516 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:4006 bladder urothelial carcinoma disease_progression ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:urinary bladder (human) PMID:31964418|REF_RGD_ID:153344516 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:4074 pancreatic adenocarcinoma exacerbates ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:pancreas (human) PMID:31964418|REF_RGD_ID:153344516 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:4450 renal cell carcinoma ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16188142 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:4450 renal cell carcinoma ISO RGD:737482 D RGD:9068941 20200609 RGD mRNA:splice variant PMID:12115583|REF_RGD_ID:2293108 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:737482 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17363528|REF_RGD_ID:2293102 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:4465 papillary renal cell carcinoma disease_progression ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:kidney (human) PMID:31964418|REF_RGD_ID:153344516 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:4467 clear cell renal cell carcinoma exacerbates ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:kidney (human) PMID:31964418|REF_RGD_ID:153344516 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:4471 chromophobe renal cell carcinoma exacerbates ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:kidney (human) PMID:31964418|REF_RGD_ID:153344516 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:5517 stomach carcinoma ISO RGD:70499 D RGD:9068941 20200609 RGD protein:increased expression:stomach PMID:12854136|REF_RGD_ID:2293138 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:5844 myocardial infarction ISO RGD:70499 D RGD:9068941 20200609 RGD PMID:15081314|REF_RGD_ID:2293137 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:6000 congestive heart failure ISO RGD:70499 D RGD:9068941 20200609 RGD associated with Hypertension;protein:decreased expression:cardiac muscle cell PMID:16257070|REF_RGD_ID:2293134 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:630 genetic disease ISO RGD:737482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:6432 pulmonary hypertension ISO RGD:737482 D RGD:9068941 20200609 RGD protein:increased expression:pulmonary artery PMID:15931388|REF_RGD_ID:2293135 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:684 hepatocellular carcinoma ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16086872|PMID:20514400 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:liver (human) PMID:31964418|REF_RGD_ID:153344516 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:7474 malignant pleural mesothelioma exacerbates ISO RGD:737482 D RGD:9068941 20220825 RGD mRNA:increased expression:pleura, lung (human) PMID:17253596|REF_RGD_ID:153344528 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:8552 chronic myeloid leukemia ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16254145 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16166298 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9000081 Lymphatic Metastasis ISO RGD:737482 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms;mRNA:splice variant PMID:17877643|REF_RGD_ID:2293098 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:737482 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:17285241|REF_RGD_ID:2293103 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9000217 Stomach Neoplasms ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15993841 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9000300 Refractory Anemia ISO RGD:737482 D RGD:9068941 20200609 RGD PMID:18426652|REF_RGD_ID:11038658 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:737482 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:17441339|REF_RGD_ID:2298939 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9000998 Brain Injuries ISO RGD:70499 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain, astrocyte, neuron PMID:15453988|REF_RGD_ID:2293136 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70499 D RGD:9068941 20200609 RGD PMID:17938867|REF_RGD_ID:2293129 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:70499 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:18246794|REF_RGD_ID:2293125 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9002265 Kidney Neoplasms disease_progression ISO RGD:737482 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:11150435|REF_RGD_ID:2293109 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29541389 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15970709|PMID:16202317|PMID:16211241|PMID:18567002 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:737482 D RGD:9068941 20200609 RGD PMID:18171606|PMID:18567002|REF_RGD_ID:2298935|REF_RGD_ID:2298936 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9002928 Colonic Neoplasms ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16224667|PMID:19147571 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737482 D RGD:9068941 20200609 RGD PMID:17364499|REF_RGD_ID:2293101 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737482 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix PMID:17877643|REF_RGD_ID:2293098 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:737482 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17890889|REF_RGD_ID:2293097 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9003566 Mesothelioma exacerbates ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:mesothelium (human) PMID:31964418|REF_RGD_ID:153344516 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9003654 Testicular Germ Cell Tumor exacerbates ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:testis (human) PMID:31964418|REF_RGD_ID:153344516 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9004009 Reperfusion Injury ISO RGD:70499 D RGD:9068941 20200609 RGD PMID:18053646|REF_RGD_ID:2293127 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9004009 Reperfusion Injury ISO RGD:70499 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:18159002|REF_RGD_ID:2293126 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:737482 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:16803539|REF_RGD_ID:2298940 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:737482 D RGD:9068941 20200609 RGD mRNA:increased expression:urine PMID:18055328|REF_RGD_ID:2293095 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9005172 Lung Neoplasms ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15981204|PMID:16108013 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9005969 Refractory Anemia with Excess of Blasts ISO RGD:737482 D RGD:9068941 20200609 RGD PMID:18426652|REF_RGD_ID:11038658 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9007715 Endometrial Neoplasms ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363521 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16364925 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9008939 Breast Neoplasms ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16322251|PMID:16818634 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:737482 D RGD:9068941 20200609 RGD PMID:17240580|PMID:18451232|REF_RGD_ID:2293090|REF_RGD_ID:2293104 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:737482 D RGD:9068941 20200609 RGD mRNA:increased expression:blood PMID:17086357|REF_RGD_ID:2293105 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:737482 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:18227733|REF_RGD_ID:2293092 11938488 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9256 colorectal cancer ISO RGD:737482 D RGD:9068941 20220825 RGD mRNA, protein:increased expression:colonic mucosa (human) PMID:27827395|REF_RGD_ID:153344527 11938488 Birc5 baculoviral IAP repeat-containing 5 gene DOID:6432 pulmonary hypertension ISO RGD:70499 D RGD:9068941 20200609 RGD PMID:15931388|REF_RGD_ID:2293135 11938498 MLLT1 MLLT1 super elongation complex subunit gene DOID:2154 nephroblastoma ISO RGD:1345161 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 11938498 MLLT1 MLLT1 super elongation complex subunit gene DOID:630 genetic disease ISO RGD:1345161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11938498 MLLT1 MLLT1 super elongation complex subunit gene DOID:9003133 Hypertelorism ISO RGD:1345161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism 11938517 RCOR2 REST corepressor 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1353932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11938517 RCOR2 REST corepressor 2 gene DOID:1059 intellectual disability ISO RGD:1353932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11938517 RCOR2 REST corepressor 2 gene DOID:3070 high grade glioma ISO RGD:1353932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11938517 RCOR2 REST corepressor 2 gene DOID:630 genetic disease ISO RGD:1353932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11938535 TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A gene DOID:0050439 Usher syndrome ISO RGD:1313879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 11938535 TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1313879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 11938535 TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A gene DOID:12930 dilated cardiomyopathy ISO RGD:1313879 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 11938535 TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A gene DOID:1540 parathyroid carcinoma ISO RGD:1313879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11938535 TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A gene DOID:630 genetic disease ISO RGD:1313879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11938535 TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A gene DOID:9000303 Familial Restrictive Cardiomyopathy 6 ISO RGD:1313879 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 6 PMID:25741868 11938535 TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11938571 LOC100985210 olfactory receptor 2B11 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1349718 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11938571 LOC100985210 olfactory receptor 2B11 gene DOID:1540 parathyroid carcinoma ISO RGD:1349718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11938571 LOC100985210 olfactory receptor 2B11 gene DOID:630 genetic disease ISO RGD:1349718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11938571 LOC100985210 olfactory receptor 2B11 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1349718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome PMID:28492532|PMID:29611406 11938571 LOC100985210 olfactory receptor 2B11 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11938581 NUP58 nucleoporin 58 gene DOID:630 genetic disease ISO RGD:1353907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11938612 CHRNB3 cholinergic receptor nicotinic beta 3 subunit gene DOID:0050742 nicotine dependence ISO RGD:1347400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20418888 11938612 CHRNB3 cholinergic receptor nicotinic beta 3 subunit gene DOID:0090039 torsion dystonia 6 ISO RGD:1347400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 11938612 CHRNB3 cholinergic receptor nicotinic beta 3 subunit gene DOID:0111959 immunodeficiency 15B ISO RGD:1347400 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 11938612 CHRNB3 cholinergic receptor nicotinic beta 3 subunit gene DOID:1470 major depressive disorder ISO RGD:1347400 D RGD:9068941 20220128 RGD mRNA:decreased expression:habenula: PMID:28420875|REF_RGD_ID:151347550 11938612 CHRNB3 cholinergic receptor nicotinic beta 3 subunit gene DOID:1596 depressive disorder ISO RGD:1347400 D RGD:9068941 20220128 RGD mRNA:decreased expression:habenula: PMID:28420875|REF_RGD_ID:151347550 11938612 CHRNB3 cholinergic receptor nicotinic beta 3 subunit gene DOID:1596 depressive disorder ISO RGD:621544 D RGD:9068941 20220128 RGD mRNA:decreased expression:habenula: PMID:28420875|REF_RGD_ID:151347550 11938612 CHRNB3 cholinergic receptor nicotinic beta 3 subunit gene DOID:630 genetic disease ISO RGD:1347400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11938612 CHRNB3 cholinergic receptor nicotinic beta 3 subunit gene DOID:9001310 Tobacco Use Disorder ISO RGD:1347400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28851948 11938612 CHRNB3 cholinergic receptor nicotinic beta 3 subunit gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:1347400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:27726124 11938612 CHRNB3 cholinergic receptor nicotinic beta 3 subunit gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1347400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 11938622 SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11938622 SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 gene DOID:1056 oculocerebrorenal syndrome ISO RGD:1350342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lowe syndrome PMID:17142121 11938622 SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 gene DOID:12849 autistic disorder ISO RGD:1350342 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Mental retardation, X-linked PMID:21681106|PMID:25741868|PMID:30208311 11938622 SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 gene DOID:630 genetic disease ISO RGD:1350342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14536084 11938622 SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11938622 SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1350342 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED PMID:25741868 11938662 PALLD palladin, cytoskeletal associated protein gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1604638 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:22499340|PMID:28492532|PMID:29068549 11938662 PALLD palladin, cytoskeletal associated protein gene DOID:1793 pancreatic cancer ISO RGD:1604638 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 PMID:10454945|PMID:11474289|PMID:17194196|PMID:17415588|PMID:24033266|PMID:25741868|PMID:28492532 11938662 PALLD palladin, cytoskeletal associated protein gene DOID:1793 pancreatic cancer ISO RGD:1604638 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 PMID:10454945|PMID:11474289|PMID:17194196|PMID:17415588|PMID:24033266|PMID:25741868|PMID:28492532|PMID:33764904 11938662 PALLD palladin, cytoskeletal associated protein gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1604638 D RGD:7240710 20190502 OMIM 11938662 PALLD palladin, cytoskeletal associated protein gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1604638 D RGD:9068941 20200609 RGD protein:increased expression, alternative form:pancreas, fibroblast PMID:17404500|REF_RGD_ID:2325781 11938662 PALLD palladin, cytoskeletal associated protein gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1604638 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:10454945|PMID:11474289|PMID:17194196|PMID:17415588|PMID:17576681|PMID:24033266|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9536098 11938662 PALLD palladin, cytoskeletal associated protein gene DOID:4905 pancreatic carcinoma ISO RGD:1604638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:17194196|PMID:28166811|PMID:28492532 11938662 PALLD palladin, cytoskeletal associated protein gene DOID:630 genetic disease ISO RGD:1604638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11938662 PALLD palladin, cytoskeletal associated protein gene DOID:9000998 Brain Injuries ISO RGD:2322545 D RGD:9068941 20200609 RGD protein:increased expression:brain, astrocyte PMID:12932445|REF_RGD_ID:2325786 11938662 PALLD palladin, cytoskeletal associated protein gene DOID:9004657 Weight Gain ISO RGD:1604638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11938662 PALLD palladin, cytoskeletal associated protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10454945|PMID:11474289|PMID:17194196|PMID:17415588|PMID:24033266|PMID:25741868|PMID:28166811|PMID:28492532 11938689 CSPG5 chondroitin sulfate proteoglycan 5 gene DOID:630 genetic disease ISO RGD:733098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11938689 CSPG5 chondroitin sulfate proteoglycan 5 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:733098 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11938707 TUSC3 tumor suppressor candidate 3 gene DOID:0081183 autosomal recessive intellectual developmental disorder 7 ISO RGD:1606831 D RGD:7240710 20180130 OMIM 11938707 TUSC3 tumor suppressor candidate 3 gene DOID:0081183 autosomal recessive intellectual developmental disorder 7 ISO RGD:1606831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER 22 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 22 PMID:17576681|PMID:18452889|PMID:18455129|PMID:21681106|PMID:21739581|PMID:23806237|PMID:25626710|PMID:25741868|PMID:27148795|PMID:28492532|PMID:28820871|PMID:9536098 11938707 TUSC3 tumor suppressor candidate 3 gene DOID:1059 intellectual disability ISO RGD:1606831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18455129|PMID:23806237|PMID:25626710|PMID:25741868|PMID:28492532|PMID:30167849 11938707 TUSC3 tumor suppressor candidate 3 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1606831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:18455129|PMID:23806237|PMID:25626710|PMID:25741868|PMID:28492532|PMID:28820871 11938707 TUSC3 tumor suppressor candidate 3 gene DOID:630 genetic disease ISO RGD:1606831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28820871 11938707 TUSC3 tumor suppressor candidate 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11938707 TUSC3 tumor suppressor candidate 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11938707 TUSC3 tumor suppressor candidate 3 gene DOID:9006534 Nervous System Malformations ISO RGD:1606831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:21739581|PMID:25741868 11938723 CD19 CD19 molecule gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1319228 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 11938723 CD19 CD19 molecule gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1319228 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:25741868|PMID:28492532 11938723 CD19 CD19 molecule gene DOID:0081146 common variable immunodeficiency 3 ISO RGD:1319228 D RGD:7240710 20190710 OMIM 11938723 CD19 CD19 molecule gene DOID:0081146 common variable immunodeficiency 3 ISO RGD:1319228 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 3 PMID:16672701|PMID:17882224|PMID:21159371|PMID:21330302|PMID:24033266|PMID:25741868|PMID:28492532 11938723 CD19 CD19 molecule gene DOID:12177 common variable immunodeficiency ISO RGD:1319228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16672701 11938723 CD19 CD19 molecule gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1319228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 11938723 CD19 CD19 molecule gene DOID:2583 agammaglobulinemia ISO RGD:1319228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16672701 11938723 CD19 CD19 molecule gene DOID:5419 schizophrenia ISO RGD:1319228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11938723 CD19 CD19 molecule gene DOID:612 primary immunodeficiency disease ISO RGD:1319228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11938723 CD19 CD19 molecule gene DOID:630 genetic disease ISO RGD:1319228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11938723 CD19 CD19 molecule gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1319228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 11938742 VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog gene DOID:0050763 ARC syndrome ISO RGD:1351893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20190753 11938742 VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog gene DOID:0050763 ARC syndrome ISO RGD:1618250 D RGD:9068941 20220825 MouseDO OMIM:208085 | OMIM:613404 11938742 VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1351893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:28492532 11938742 VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog gene DOID:0111353 arthrogryposis, renal dysfunction, and cholestasis 1 ISO RGD:1351893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 PMID:25741868|PMID:31319225 11938742 VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog gene DOID:0111354 arthrogryposis, renal dysfunction, and cholestasis 2 ISO RGD:1351893 D RGD:7240710 20190918 OMIM 11938742 VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog gene DOID:0111354 arthrogryposis, renal dysfunction, and cholestasis 2 ISO RGD:1351893 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 2 PMID:20190753|PMID:25741868|PMID:28492532|PMID:31479177 11938742 VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog gene DOID:630 genetic disease ISO RGD:1351893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11938780 IL20RA interleukin 20 receptor subunit alpha gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1316471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 11938780 IL20RA interleukin 20 receptor subunit alpha gene DOID:0111955 immunodeficiency 27A ISO RGD:1316471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 11938780 IL20RA interleukin 20 receptor subunit alpha gene DOID:14115 toxic shock syndrome ISO RGD:1618138 D RGD:9068941 20200609 RGD mRNA:increased expression:multiple PMID:18246602|REF_RGD_ID:5037232 11938780 IL20RA interleukin 20 receptor subunit alpha gene DOID:630 genetic disease ISO RGD:1316471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11938780 IL20RA interleukin 20 receptor subunit alpha gene DOID:9003281 Spontaneous Abortions ISO RGD:1316471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11938780 IL20RA interleukin 20 receptor subunit alpha gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1316471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection PMID:26642243|PMID:28492532|PMID:29572183|PMID:8960473|PMID:9806040 11938792 CPN1 carboxypeptidase N subunit 1 gene DOID:0111583 carboxypeptidase N deficiency ISO RGD:734334 D RGD:7240710 20180130 OMIM 11938792 CPN1 carboxypeptidase N subunit 1 gene DOID:0111583 carboxypeptidase N deficiency ISO RGD:734334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anaphylotoxin inactivator deficiency PMID:12560874|PMID:24033266|PMID:7437116 11938792 CPN1 carboxypeptidase N subunit 1 gene DOID:630 genetic disease ISO RGD:734334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11938807 RASGRF1 Ras protein specific guanine nucleotide releasing factor 1 gene DOID:11830 myopia ISO RGD:1344062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 11938807 RASGRF1 Ras protein specific guanine nucleotide releasing factor 1 gene DOID:2717 Bloom syndrome ISO RGD:1344062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11938807 RASGRF1 Ras protein specific guanine nucleotide releasing factor 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:1344062 D RGD:9068941 20200609 RGD protein:decreased expression:temporal neocortex (human) PMID:23200899|REF_RGD_ID:10003135 11938807 RASGRF1 Ras protein specific guanine nucleotide releasing factor 1 gene DOID:630 genetic disease ISO RGD:1344062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11938807 RASGRF1 Ras protein specific guanine nucleotide releasing factor 1 gene DOID:9002189 High Myopia ISO RGD:1344062 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS1+7218 (human) PMID:24150758|REF_RGD_ID:10003136 11938807 RASGRF1 Ras protein specific guanine nucleotide releasing factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620395 D RGD:9068941 20200609 RGD protein:decreased expression:brain, membrane (rat) PMID:19002579|REF_RGD_ID:10003129 11938807 RASGRF1 Ras protein specific guanine nucleotide releasing factor 1 gene DOID:9007090 Experimental Seizures ISO RGD:620395 D RGD:9068941 20200609 RGD protein:decreased expression:dentate gyrus, hippocampus CA1, cerebral cortex (rat) PMID:23200899|REF_RGD_ID:10003135 11938807 RASGRF1 Ras protein specific guanine nucleotide releasing factor 1 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:1344062 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21115823 11938807 RASGRF1 Ras protein specific guanine nucleotide releasing factor 1 gene DOID:9008675 Dyskinesias susceptibility ISO RGD:1551710 D RGD:9068941 20200609 RGD PMID:21115823|REF_RGD_ID:10003138 11938807 RASGRF1 Ras protein specific guanine nucleotide releasing factor 1 gene DOID:9256 colorectal cancer ISO RGD:1344062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11938807 RASGRF1 Ras protein specific guanine nucleotide releasing factor 1 gene DOID:9835 refractive error ISO RGD:1344062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20835236 11938847 SH2D3A SH2 domain containing 3A gene DOID:0080490 mucolipidosis type IV ISO RGD:1348075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11938847 SH2D3A SH2 domain containing 3A gene DOID:630 genetic disease ISO RGD:1348075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11938865 AP4S1 adaptor related protein complex 4 subunit sigma 1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1348189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:21681106 11938865 AP4S1 adaptor related protein complex 4 subunit sigma 1 gene DOID:0060578 Noonan syndrome 1 ISO RGD:1348189 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:25741868 11938865 AP4S1 adaptor related protein complex 4 subunit sigma 1 gene DOID:0110804 hereditary spastic paraplegia 52 ISO RGD:1348189 D RGD:7240710 20180130 OMIM 11938865 AP4S1 adaptor related protein complex 4 subunit sigma 1 gene DOID:0110804 hereditary spastic paraplegia 52 ISO RGD:1348189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 52, autosomal recessive PMID:17576681|PMID:18414213|PMID:21620353|PMID:23167973|PMID:24700674|PMID:25552650|PMID:25741868|PMID:26297806|PMID:27444738|PMID:28492532|PMID:28708303|PMID:31660686|PMID:32979048|PMID:9536098 11938865 AP4S1 adaptor related protein complex 4 subunit sigma 1 gene DOID:1059 intellectual disability ISO RGD:1348189 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21620353|PMID:25552650|PMID:25741868|PMID:27444738|PMID:28492532|PMID:28708303|PMID:32979048 11938865 AP4S1 adaptor related protein complex 4 subunit sigma 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1348189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18414213|PMID:25741868|PMID:28492532 11938865 AP4S1 adaptor related protein complex 4 subunit sigma 1 gene DOID:607 paraplegia ISO RGD:1348189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:17576681|PMID:18414213|PMID:21620353|PMID:23167973|PMID:24700674|PMID:25552650|PMID:25741868|PMID:26297806|PMID:26633542|PMID:27444738|PMID:28492532|PMID:28708303|PMID:30283821|PMID:31660686|PMID:31915823|PMID:32979048|PMID:9536098 11938865 AP4S1 adaptor related protein complex 4 subunit sigma 1 gene DOID:630 genetic disease ISO RGD:1348189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:32979048 11938865 AP4S1 adaptor related protein complex 4 subunit sigma 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:16199547|PMID:21620353|PMID:25552650|PMID:25741868|PMID:27444738|PMID:28492532 11938865 AP4S1 adaptor related protein complex 4 subunit sigma 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1348189 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11938902 STAMBP STAM binding protein gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1606575 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11938902 STAMBP STAM binding protein gene DOID:10907 microcephaly ISO RGD:1606575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23542699 11938902 STAMBP STAM binding protein gene DOID:1826 epilepsy ISO RGD:1606575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23542699 11938902 STAMBP STAM binding protein gene DOID:543 dystonia ISO RGD:1606575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia 1 PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11938902 STAMBP STAM binding protein gene DOID:630 genetic disease ISO RGD:1606575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11938902 STAMBP STAM binding protein gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1606575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11938902 STAMBP STAM binding protein gene DOID:9004046 Microcephaly-Capillary Malformation Syndrome ISO RGD:1606575 D RGD:7240710 20180130 OMIM 11938902 STAMBP STAM binding protein gene DOID:9004046 Microcephaly-Capillary Malformation Syndrome ISO RGD:1606575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly-capillary malformation syndrome PMID:18414213|PMID:21271646|PMID:21815250|PMID:23542699|PMID:25326635|PMID:25741868|PMID:28492532|PMID:29907875 11938902 STAMBP STAM binding protein gene DOID:9005469 Capillary Malformation-Arteriovenous Malformation ISO RGD:1606575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23542699 11938902 STAMBP STAM binding protein gene DOID:9008086 Developmental Disabilities ISO RGD:1606575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23542699 11938902 STAMBP STAM binding protein gene DOID:936 brain disease ISO RGD:1606575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23542699 11938926 RFX7 regulatory factor X7 gene DOID:10907 microcephaly ISO RGD:1603966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11938926 RFX7 regulatory factor X7 gene DOID:2717 Bloom syndrome ISO RGD:1603966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11938926 RFX7 regulatory factor X7 gene DOID:630 genetic disease ISO RGD:1603966 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:33658631 11938926 RFX7 regulatory factor X7 gene DOID:9004011 Autosomal Dominant Intellectual Developmental Disorder 71 ISO RGD:1603966 D RGD:7240710 20230505 OMIM 11938926 RFX7 regulatory factor X7 gene DOID:9004011 Autosomal Dominant Intellectual Developmental Disorder 71 ISO RGD:1603966 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities PMID:25741868|PMID:33584783|PMID:33658631|PMID:36334883 11938926 RFX7 regulatory factor X7 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1603966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11938926 RFX7 regulatory factor X7 gene DOID:9256 colorectal cancer ISO RGD:1603966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11938943 HSPB2 heat shock protein family B (small) member 2 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:731772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 11938943 HSPB2 heat shock protein family B (small) member 2 gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:731772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:25966638|PMID:28492532 11938943 HSPB2 heat shock protein family B (small) member 2 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:731772 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 11938943 HSPB2 heat shock protein family B (small) member 2 gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:731772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:28492532 11938943 HSPB2 heat shock protein family B (small) member 2 gene DOID:1059 intellectual disability ISO RGD:731772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11938943 HSPB2 heat shock protein family B (small) member 2 gene DOID:12704 ataxia telangiectasia ISO RGD:731772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11938943 HSPB2 heat shock protein family B (small) member 2 gene DOID:630 genetic disease ISO RGD:731772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11938943 HSPB2 heat shock protein family B (small) member 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:731772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11938943 HSPB2 heat shock protein family B (small) member 2 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:731772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 11938951 SLC35B2 solute carrier family 35 member B2 gene DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity ISO RGD:1349281 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations PMID:35325049 11938951 SLC35B2 solute carrier family 35 member B2 gene DOID:630 genetic disease ISO RGD:1349281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11938951 SLC35B2 solute carrier family 35 member B2 gene DOID:9008469 Hypomyelinating Leukodystrophy 26 ISO RGD:1349281 D RGD:7240710 20230505 OMIM 11938951 SLC35B2 solute carrier family 35 member B2 gene DOID:9008469 Hypomyelinating Leukodystrophy 26 ISO RGD:1349281 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 26, with chondrodysplasia PMID:35325049 11938965 CCDC180 coiled-coil domain containing 180 gene DOID:10316 pneumoconiosis ISO RGD:4110705 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 11938965 CCDC180 coiled-coil domain containing 180 gene DOID:1059 intellectual disability ISO RGD:4110705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11938965 CCDC180 coiled-coil domain containing 180 gene DOID:3007 breast ductal carcinoma ISO RGD:4110705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 11938965 CCDC180 coiled-coil domain containing 180 gene DOID:630 genetic disease ISO RGD:4110705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939023 RASGEF1C RasGEF domain family member 1C gene DOID:630 genetic disease ISO RGD:1323065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939048 HR HR lysine demethylase and nuclear receptor corepressor gene DOID:0050634 alopecia universalis ISO RGD:1344984 D RGD:7240710 20180130 OMIM 11939048 HR HR lysine demethylase and nuclear receptor corepressor gene DOID:0050634 alopecia universalis ISO RGD:1344984 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: ATRICHIA, GENERALIZED | ClinVar Annotator: match by term: Alopecia universalis | ClinVar Annotator: match by term: Alopecia universalis congenita PMID:11410842|PMID:11641275|PMID:11966690|PMID:12406339|PMID:17609203|PMID:20087431|PMID:20512917|PMID:21747609|PMID:21919222|PMID:22584530|PMID:23548463|PMID:24033266|PMID:25741868|PMID:26680117|PMID:28492532|PMID:8790387|PMID:9445480|PMID:9736769|PMID:9758627 11939048 HR HR lysine demethylase and nuclear receptor corepressor gene DOID:0060689 atrichia with papular lesions ISO RGD:1344984 D RGD:7240710 20180130 OMIM 11939048 HR HR lysine demethylase and nuclear receptor corepressor gene DOID:0060689 atrichia with papular lesions ISO RGD:1344984 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Atrichia with papular lesions | ClinVar Annotator: match by term: Papular Atrichia PMID:10205263|PMID:10469319|PMID:11410842|PMID:11966690|PMID:12271294|PMID:17609203|PMID:17869066|PMID:18164595|PMID:20087431|PMID:20512917|PMID:21747609|PMID:21919222|PMID:22584530|PMID:23548463|PMID:24033266|PMID:25741868|PMID:28492532|PMID:8790387|PMID:9445480|PMID:9736769|PMID:9758627|PMID:9856480|PMID:9880231|PMID:9892925 11939048 HR HR lysine demethylase and nuclear receptor corepressor gene DOID:0070044 Coffin-Siris syndrome 2 ISO RGD:1344984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 PMID:21919222|PMID:23548463|PMID:25741868|PMID:28492532 11939048 HR HR lysine demethylase and nuclear receptor corepressor gene DOID:0110701 hypotrichosis 4 ISO RGD:1344984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotrichosis 4 PMID:10777357|PMID:10854110|PMID:11069461|PMID:17680008|PMID:19122663|PMID:19897589|PMID:20659777|PMID:20814945 11939048 HR HR lysine demethylase and nuclear receptor corepressor gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:620634 D RGD:9068941 20211022 RGD PMID:21325752|REF_RGD_ID:150520024 11939048 HR HR lysine demethylase and nuclear receptor corepressor gene DOID:576 proteinuria ISO RGD:620634 D RGD:9068941 20211022 RGD PMID:21325752|REF_RGD_ID:150520024 11939048 HR HR lysine demethylase and nuclear receptor corepressor gene DOID:630 genetic disease ISO RGD:1344984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11939048 HR HR lysine demethylase and nuclear receptor corepressor gene DOID:9001946 Skin Abnormalities ISO RGD:1344984 D RGD:9068941 20200609 RGD atrichia with papular lesions, OMIM:209500 DNA:deletion:exon:2147delC PMID:9856480|REF_RGD_ID:1599576 11939048 HR HR lysine demethylase and nuclear receptor corepressor gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1344984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 11939048 HR HR lysine demethylase and nuclear receptor corepressor gene DOID:987 alopecia ISO RGD:1344984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16455232 11939048 HR HR lysine demethylase and nuclear receptor corepressor gene DOID:987 alopecia ISO RGD:1344984 D RGD:9068941 20200609 RGD alopecia universalis congenita, OMIM:203655 DNA:point_mutation:CDS:T3407A -> amino acid V1136D PMID:9736769|REF_RGD_ID:1599575 11939081 ST6GALNAC3 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:1345799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:28492532 11939081 ST6GALNAC3 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 gene DOID:630 genetic disease ISO RGD:1345799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939094 PPM1M protein phosphatase, Mg2+/Mn2+ dependent 1M gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1602186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 11939094 PPM1M protein phosphatase, Mg2+/Mn2+ dependent 1M gene DOID:630 genetic disease ISO RGD:1602186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939115 CTRC chymotrypsin C gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1318112 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11939115 CTRC chymotrypsin C gene DOID:9006190 Chronic Pancreatitis ISO RGD:1318112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic pancreatitis | ClinVar Annotator: match by term: Pancreatitis, chronic, susceptibility to PMID:18059268|PMID:18172691|PMID:19453252|PMID:20625975|PMID:22427236|PMID:22942235|PMID:23951356|PMID:25569187|PMID:25741868|PMID:28492532 11939115 CTRC chymotrypsin C gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1318112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:16199547|PMID:17576681|PMID:18059268|PMID:18172691|PMID:190101|PMID:19453252|PMID:20625975|PMID:21631589|PMID:22427236|PMID:22580415|PMID:22942235|PMID:23135764|PMID:23430245|PMID:23721890|PMID:23951356|PMID:25251442|PMID:25569187|PMID:25741868|PMID:26013824|PMID:26022124|PMID:26100556|PMID:27264265|PMID:27409067|PMID:28166811|PMID:28492532|PMID:28497564|PMID:29669919|PMID:30420730|PMID:9536098 11939115 CTRC chymotrypsin C gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1318112 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:16199547|PMID:17576681|PMID:18059268|PMID:18172691|PMID:190101|PMID:19404200|PMID:19453252|PMID:19951900|PMID:20625975|PMID:21631589|PMID:22427236|PMID:22580415|PMID:22942235|PMID:23135764|PMID:23430245|PMID:23721890|PMID:23951356|PMID:24002981|PMID:25251442|PMID:25383785|PMID:25569187|PMID:25636364|PMID:25658757|PMID:25741868|PMID:26013824|PMID:26100556|PMID:26166474|PMID:27086061|PMID:27264265|PMID:27409067|PMID:28166811|PMID:28440306|PMID:28492532|PMID:28497564|PMID:28502372|PMID:28650851|PMID:29173301|PMID:29669919|PMID:30134826|PMID:30420730|PMID:30640231|PMID:31900721|PMID:33101984|PMID:8168476|PMID:9536098 11939115 CTRC chymotrypsin C gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1318112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:16199547|PMID:17576681|PMID:18059268|PMID:18172691|PMID:190101|PMID:19404200|PMID:19407484|PMID:19453252|PMID:19951900|PMID:20625975|PMID:21631589|PMID:22427236|PMID:22580415|PMID:22942235|PMID:23135764|PMID:23430245|PMID:23721890|PMID:23951356|PMID:24002981|PMID:25251442|PMID:25383785|PMID:25569187|PMID:25636364|PMID:25658757|PMID:25741868|PMID:26013824|PMID:26022124|PMID:26100556|PMID:26166474|PMID:27086061|PMID:27264265|PMID:27409067|PMID:28440306|PMID:28492532|PMID:28497564|PMID:28502372|PMID:28650851|PMID:29173301|PMID:29669919|PMID:30134826|PMID:30420730|PMID:30640231|PMID:31900721|PMID:33101984|PMID:8168476|PMID:9536098 11939115 CTRC chymotrypsin C gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1318112 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:16199547|PMID:17576681|PMID:18059268|PMID:18172691|PMID:19404200|PMID:19407484|PMID:19453252|PMID:19951900|PMID:20625975|PMID:21631589|PMID:22427236|PMID:22580415|PMID:22942235|PMID:23135764|PMID:23430245|PMID:23721890|PMID:23951356|PMID:24002981|PMID:25251442|PMID:25383785|PMID:25569187|PMID:25636364|PMID:25658757|PMID:25741868|PMID:26013824|PMID:26022124|PMID:26100556|PMID:26166474|PMID:27086061|PMID:27264265|PMID:27409067|PMID:28440306|PMID:28492532|PMID:28497564|PMID:28502372|PMID:28650851|PMID:29173301|PMID:29669919|PMID:30134826|PMID:30420730|PMID:30640231|PMID:31900721|PMID:33101984|PMID:8168476|PMID:9536098 11939115 CTRC chymotrypsin C gene DOID:9008999 Hereditary Pancreatitis susceptibility ISO RGD:1318112 D RGD:7240710 20230505 OMIM 11939173 ZBTB22 zinc finger and BTB domain containing 22 gene DOID:0050553 JMP syndrome ISO RGD:1352119 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11939173 ZBTB22 zinc finger and BTB domain containing 22 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1352119 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 11939173 ZBTB22 zinc finger and BTB domain containing 22 gene DOID:630 genetic disease ISO RGD:1352119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939183 NUDC nuclear distribution C, dynein complex regulator gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:731477 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 11939183 NUDC nuclear distribution C, dynein complex regulator gene DOID:3883 Lynch syndrome ISO RGD:731477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer PMID:33094510 11939183 NUDC nuclear distribution C, dynein complex regulator gene DOID:3883 Lynch syndrome ISO RGD:731477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer PMID:11136233|PMID:20233523|PMID:28492532|PMID:33094510 11939183 NUDC nuclear distribution C, dynein complex regulator gene DOID:3883 Lynch syndrome ISO RGD:731477 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer PMID:11136233|PMID:20233523|PMID:25741868|PMID:28492532|PMID:33094510 11939183 NUDC nuclear distribution C, dynein complex regulator gene DOID:630 genetic disease ISO RGD:731477 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11939183 NUDC nuclear distribution C, dynein complex regulator gene DOID:9970 obesity ISO RGD:731477 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, mild, early-onset PMID:11136233|PMID:25741868|PMID:28492532|PMID:33094510 11939183 NUDC nuclear distribution C, dynein complex regulator gene DOID:9970 obesity ISO RGD:731477 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, mild, early-onset PMID:11136233|PMID:20233523|PMID:25741868|PMID:28492532|PMID:33094510 11939200 PPP3CB protein phosphatase 3 catalytic subunit beta gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:733965 D RGD:9068941 20200609 RGD PMID:26436650|REF_RGD_ID:13515117 11939200 PPP3CB protein phosphatase 3 catalytic subunit beta gene DOID:1712 aortic valve stenosis ISO RGD:733965 D RGD:9068941 20200609 RGD PMID:15533858|REF_RGD_ID:1580704 11939200 PPP3CB protein phosphatase 3 catalytic subunit beta gene DOID:5419 schizophrenia ISO RGD:3383 D RGD:9068941 20200609 RGD PMID:29214423|REF_RGD_ID:13515120 11939200 PPP3CB protein phosphatase 3 catalytic subunit beta gene DOID:5419 schizophrenia ISO RGD:733965 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:15820226|REF_RGD_ID:13515121 11939200 PPP3CB protein phosphatase 3 catalytic subunit beta gene DOID:630 genetic disease ISO RGD:733965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939200 PPP3CB protein phosphatase 3 catalytic subunit beta gene DOID:893 Wilson disease ISO RGD:733965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 11939200 PPP3CB protein phosphatase 3 catalytic subunit beta gene DOID:9004009 Reperfusion Injury ISO RGD:11135 D RGD:9068941 20200609 RGD PMID:14615291|REF_RGD_ID:1580705 11939200 PPP3CB protein phosphatase 3 catalytic subunit beta gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:11135 D RGD:9068941 20200609 RGD PMID:9568714|REF_RGD_ID:1579956 11939200 PPP3CB protein phosphatase 3 catalytic subunit beta gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:733965 D RGD:9068941 20200609 RGD PMID:16688406|REF_RGD_ID:1580706 11939200 PPP3CB protein phosphatase 3 catalytic subunit beta gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:11135 D RGD:9068941 20200609 RGD PMID:9568714|REF_RGD_ID:1579956 11939200 PPP3CB protein phosphatase 3 catalytic subunit beta gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3383 D RGD:9068941 20200609 RGD PMID:16496058|REF_RGD_ID:1580703 11939230 FAM83H family with sequence similarity 83 member H gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1603342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11939230 FAM83H family with sequence similarity 83 member H gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1603342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11939230 FAM83H family with sequence similarity 83 member H gene DOID:0110055 amelogenesis imperfecta type 3A ISO RGD:1603342 D RGD:7240710 20180130 OMIM 11939230 FAM83H family with sequence similarity 83 member H gene DOID:0110055 amelogenesis imperfecta type 3A ISO RGD:1603342 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA PMID:18252228|PMID:18484629|PMID:19220331|PMID:19407157|PMID:22414746|PMID:25741868|PMID:28492532|PMID:33034243 11939230 FAM83H family with sequence similarity 83 member H gene DOID:0110059 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 ISO RGD:1603342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 11939230 FAM83H family with sequence similarity 83 member H gene DOID:2187 amelogenesis imperfecta ISO RGD:1603342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18484629|PMID:19407157 11939230 FAM83H family with sequence similarity 83 member H gene DOID:4621 holoprosencephaly ISO RGD:1603342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11939230 FAM83H family with sequence similarity 83 member H gene DOID:630 genetic disease ISO RGD:1603342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11939230 FAM83H family with sequence similarity 83 member H gene DOID:9001593 Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis ISO RGD:12270513 D RGD:9068941 20210604 OMIA Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis PMID:16961470|PMID:22212237|PMID:22253609|PMID:22339941|PMID:29284193|PMID:30650096 11939230 FAM83H family with sequence similarity 83 member H gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1603342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11939230 FAM83H family with sequence similarity 83 member H gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1603342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19407157 11939240 LOC100970458 probable transmembrane reductase CYB561D1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1321956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11939240 LOC100970458 probable transmembrane reductase CYB561D1 gene DOID:12849 autistic disorder ISO RGD:1321956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11939240 LOC100970458 probable transmembrane reductase CYB561D1 gene DOID:630 genetic disease ISO RGD:1321956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939264 TCP11L2 t-complex 11 like 2 gene DOID:630 genetic disease ISO RGD:1605554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939303 CCNE1 cyclin E1 gene DOID:0050902 medulloblastoma ISO RGD:736488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 11939303 CCNE1 cyclin E1 gene DOID:10763 hypertension ISO RGD:2294 D RGD:9068941 20200609 RGD protein:increased expression:vascular associated smooth muscle cell PMID:12847112|REF_RGD_ID:2289296 11939303 CCNE1 cyclin E1 gene DOID:11054 urinary bladder cancer ISO RGD:736488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20972438|PMID:27514407 11939303 CCNE1 cyclin E1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:736488 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:18047954|REF_RGD_ID:2296035 11939303 CCNE1 cyclin E1 gene DOID:11054 urinary bladder cancer severity ISO RGD:736488 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:16739882|REF_RGD_ID:2289267 11939303 CCNE1 cyclin E1 gene DOID:1612 breast cancer disease_progression ISO RGD:736488 D RGD:9068941 20200609 RGD PMID:17483245|REF_RGD_ID:2289231 11939303 CCNE1 cyclin E1 gene DOID:2237 hepatitis ISO RGD:736489 D RGD:9068941 20220728 RGD PMID:29551768|REF_RGD_ID:153297807 11939303 CCNE1 cyclin E1 gene DOID:3458 breast adenocarcinoma ISO RGD:736488 D RGD:9068941 20200609 RGD DNA:amplification PMID:18089785|REF_RGD_ID:2289225 11939303 CCNE1 cyclin E1 gene DOID:3571 liver cancer disease_progression ISO RGD:2294 D RGD:9068941 20220224 RGD protein:increased expression:liver (rat) PMID:11797828|REF_RGD_ID:151356973 11939303 CCNE1 cyclin E1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:736488 D RGD:9068941 20200609 RGD PMID:11212263|REF_RGD_ID:13673913 11939303 CCNE1 cyclin E1 gene DOID:4001 ovarian carcinoma ISO RGD:2294 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:12713563|REF_RGD_ID:2289335 11939303 CCNE1 cyclin E1 gene DOID:4450 renal cell carcinoma ISO RGD:736488 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:17726548|REF_RGD_ID:2289228 11939303 CCNE1 cyclin E1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:736488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29464035 11939303 CCNE1 cyclin E1 gene DOID:630 genetic disease ISO RGD:736488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939303 CCNE1 cyclin E1 gene DOID:684 hepatocellular carcinoma ISO RGD:2294 D RGD:9068941 20200609 RGD PMID:17196522|REF_RGD_ID:2289277 11939303 CCNE1 cyclin E1 gene DOID:684 hepatocellular carcinoma ISO RGD:736488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12029619|PMID:22634754 11939303 CCNE1 cyclin E1 gene DOID:684 hepatocellular carcinoma ISO RGD:736489 D RGD:9068941 20220728 RGD PMID:29551768|REF_RGD_ID:153297807 11939303 CCNE1 cyclin E1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:736489 D RGD:9068941 20210702 RGD PMID:28100771|REF_RGD_ID:127285675 11939303 CCNE1 cyclin E1 gene DOID:8634 prostate carcinoma in situ ISO RGD:736489 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland PMID:14968434|REF_RGD_ID:2289283 11939303 CCNE1 cyclin E1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:736488 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:18301453|REF_RGD_ID:2293574 11939303 CCNE1 cyclin E1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2294 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:16759516|REF_RGD_ID:2289281 11939303 CCNE1 cyclin E1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:736488 D RGD:9068941 20200609 RGD associated with Carcinoma, Transitional Cell;protein:decreased expression PMID:16949911|REF_RGD_ID:2289266 11939303 CCNE1 cyclin E1 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:736488 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:testis PMID:11358847|REF_RGD_ID:2296041 11939303 CCNE1 cyclin E1 gene DOID:9000918 Disease Progression ISO RGD:736488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19385967 11939303 CCNE1 cyclin E1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736488 D RGD:9068941 20200609 RGD associated with non-small cell lung carcinoma PMID:11212263|REF_RGD_ID:13673913 11939303 CCNE1 cyclin E1 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:736489 D RGD:9068941 20200609 RGD protein:altered processing PMID:17671189|REF_RGD_ID:2289229 11939303 CCNE1 cyclin E1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2294 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17825795|REF_RGD_ID:2289273 11939303 CCNE1 cyclin E1 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:736489 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland PMID:14968434|REF_RGD_ID:2289283 11939303 CCNE1 cyclin E1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:736488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21397856 11939303 CCNE1 cyclin E1 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:736488 D RGD:9068941 20200609 RGD protein:alternative forms, increased expression:ovary PMID:17647260|REF_RGD_ID:2296042 11939303 CCNE1 cyclin E1 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:736488 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:16116079|REF_RGD_ID:2289287 11939303 CCNE1 cyclin E1 gene DOID:9002801 Recurrence ISO RGD:736488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19385967 11939303 CCNE1 cyclin E1 gene DOID:9002928 Colonic Neoplasms ISO RGD:2294 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:colon PMID:14614307|REF_RGD_ID:2289293 11939303 CCNE1 cyclin E1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:736489 D RGD:9068941 20200609 RGD protein:increased expression:cervix, epithelial cell PMID:17308103|REF_RGD_ID:2289265 11939303 CCNE1 cyclin E1 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:736488 D RGD:9068941 20200609 RGD protein:increased expression:cervix PMID:16538218|REF_RGD_ID:2289268 11939303 CCNE1 cyclin E1 gene DOID:9004009 Reperfusion Injury ISO RGD:2294 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:17584601|REF_RGD_ID:2289275 11939303 CCNE1 cyclin E1 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:736488 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:17483252|REF_RGD_ID:2289230 11939303 CCNE1 cyclin E1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2294 D RGD:9068941 20200609 RGD PMID:12602925|REF_RGD_ID:2289337 11939303 CCNE1 cyclin E1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2294 D RGD:9068941 20200609 RGD protein:decreased expression:mammary gland PMID:12649181|REF_RGD_ID:2289336 11939303 CCNE1 cyclin E1 gene DOID:9007170 Bowen's Disease ISO RGD:736488 D RGD:9068941 20200609 RGD associated with Vulvar Neoplasms;mRNA:increased expression:vulva PMID:17471573|REF_RGD_ID:2289255 11939303 CCNE1 cyclin E1 gene DOID:9008939 Breast Neoplasms ISO RGD:736488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19385967|PMID:23624423 11939318 AQP11 aquaporin 11 gene DOID:1059 intellectual disability ISO RGD:736750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11939318 AQP11 aquaporin 11 gene DOID:630 genetic disease ISO RGD:736750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939330 LOC100973249 olfactory receptor 3A3 gene DOID:630 genetic disease ISO RGD:1352676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939333 OTOP2 otopetrin 2 gene DOID:630 genetic disease ISO RGD:1312497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939345 IL23A interleukin 23 subunit alpha gene DOID:0060185 Clostridium difficile colitis severity ISO RGD:1552166 D RGD:9068941 20201009 RGD PMID:26455347|REF_RGD_ID:11097134 11939345 IL23A interleukin 23 subunit alpha gene DOID:0080158 herpes simplex virus keratitis ISO RGD:1552166 D RGD:9068941 20201009 RGD mRNA;increased expression:trigeminal ganglion (mouse) PMID:12162874|REF_RGD_ID:39457946 11939345 IL23A interleukin 23 subunit alpha gene DOID:0080642 Middle East respiratory syndrome ISO RGD:1552166 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 11939345 IL23A interleukin 23 subunit alpha gene DOID:10808 gastric ulcer treatment ISO RGD:1552166 D RGD:9068941 20201015 RGD PMID:23874957|REF_RGD_ID:39458037 11939345 IL23A interleukin 23 subunit alpha gene DOID:11339 pneumocystosis ISO RGD:1552166 D RGD:9068941 20201015 RGD PMID:17403873|REF_RGD_ID:39458043 11939345 IL23A interleukin 23 subunit alpha gene DOID:11573 listeriosis ISO RGD:1552166 D RGD:9068941 20201015 RGD PMID:19923464|PMID:22966045|REF_RGD_ID:39457955|REF_RGD_ID:39457958 11939345 IL23A interleukin 23 subunit alpha gene DOID:12053 cryptococcosis severity ISO RGD:1552166 D RGD:9068941 20201015 RGD PMID:16393998|PMID:22342846|REF_RGD_ID:39457936|REF_RGD_ID:39458042 11939345 IL23A interleukin 23 subunit alpha gene DOID:12140 Chagas disease susceptibility ISO RGD:1552166 D RGD:9068941 20201015 RGD PMID:23182712|REF_RGD_ID:39457956 11939345 IL23A interleukin 23 subunit alpha gene DOID:13272 Klebsiella pneumonia severity ISO RGD:1552166 D RGD:9068941 20201009 RGD PMID:16157683|REF_RGD_ID:39457940 11939345 IL23A interleukin 23 subunit alpha gene DOID:13622 campylobacteriosis ISO RGD:1552166 D RGD:9068941 20201015 RGD PMID:27322540|PMID:27385977|REF_RGD_ID:39457954|REF_RGD_ID:39458040 11939345 IL23A interleukin 23 subunit alpha gene DOID:14262 oral candidiasis severity ISO RGD:1552166 D RGD:9068941 20201015 RGD PMID:19204111|REF_RGD_ID:39457957 11939345 IL23A interleukin 23 subunit alpha gene DOID:2123 tularemia ISO RGD:1552166 D RGD:9068941 20201015 RGD PMID:25296161|REF_RGD_ID:39458039 11939345 IL23A interleukin 23 subunit alpha gene DOID:2945 severe acute respiratory syndrome ISO RGD:1552166 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 11939345 IL23A interleukin 23 subunit alpha gene DOID:2957 pulmonary tuberculosis ISO RGD:1552166 D RGD:9068941 20201015 RGD PMID:16002675|PMID:20624887|REF_RGD_ID:39457949|REF_RGD_ID:39458036 11939345 IL23A interleukin 23 subunit alpha gene DOID:2957 pulmonary tuberculosis ISO RGD:1552166 D RGD:9068941 20201015 RGD mRNA:increased expression:lung (mouse) PMID:11801672|PMID:21156751|REF_RGD_ID:39457953|REF_RGD_ID:39458038 11939345 IL23A interleukin 23 subunit alpha gene DOID:3310 atopic dermatitis ISO RGD:731906 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:33274957 11939345 IL23A interleukin 23 subunit alpha gene DOID:630 genetic disease ISO RGD:731906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939345 IL23A interleukin 23 subunit alpha gene DOID:7148 rheumatoid arthritis ISO RGD:731906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 11939345 IL23A interleukin 23 subunit alpha gene DOID:8893 psoriasis ISO RGD:731906 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:19169254|PMID:20953190|PMID:21348542 11939345 IL23A interleukin 23 subunit alpha gene DOID:9000099 Experimental Colitis severity ISO RGD:1552166 D RGD:9068941 20201015 RGD mRNA:increased expression:colon (mouse) PMID:24028683|REF_RGD_ID:39458035 11939345 IL23A interleukin 23 subunit alpha gene DOID:9001011 Bovine Tuberculosis ISO RGD:1552166 D RGD:9068941 20201008 RGD PMID:16923792|REF_RGD_ID:39457937 11939345 IL23A interleukin 23 subunit alpha gene DOID:9002283 Experimental Allergic Asthma ISO RGD:1552166 D RGD:9068941 20201015 RGD PMID:19935773|PMID:26344076|REF_RGD_ID:11251537|REF_RGD_ID:5037240 11939345 IL23A interleukin 23 subunit alpha gene DOID:9004422 Chagas Cardiomyopathy ISO RGD:1552166 D RGD:9068941 20201008 RGD PMID:28356392|REF_RGD_ID:39457935 11939345 IL23A interleukin 23 subunit alpha gene DOID:9005106 Animal Toxoplasmosis ISO RGD:1552166 D RGD:9068941 20201009 RGD PMID:15265921|REF_RGD_ID:39457943 11939345 IL23A interleukin 23 subunit alpha gene DOID:9111 cutaneous leishmaniasis ISO RGD:1552166 D RGD:9068941 20201009 RGD PMID:29078003|REF_RGD_ID:39457938 11939345 Il23a interleukin 23, alpha subunit p19 gene DOID:9001365 Amebic Liver Abscess ISO RGD:1552166 D RGD:9068941 20201015 RGD PMID:26809113|REF_RGD_ID:39458041 11939353 CNTFR ciliary neurotrophic factor receptor gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1344115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11939353 CNTFR ciliary neurotrophic factor receptor gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1344115 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11939353 CNTFR ciliary neurotrophic factor receptor gene DOID:0080942 anauxetic dysplasia ISO RGD:1344115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11939353 CNTFR ciliary neurotrophic factor receptor gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1344115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11939353 CNTFR ciliary neurotrophic factor receptor gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1344115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11939353 CNTFR ciliary neurotrophic factor receptor gene DOID:10283 prostate cancer ISO RGD:1344115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11939353 CNTFR ciliary neurotrophic factor receptor gene DOID:630 genetic disease ISO RGD:1344115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939353 CNTFR ciliary neurotrophic factor receptor gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1344115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11939353 CNTFR ciliary neurotrophic factor receptor gene DOID:9562 primary ciliary dyskinesia ISO RGD:1344115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11939353 CNTFR ciliary neurotrophic factor receptor gene DOID:9870 galactosemia ISO RGD:1344115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11939390 TMEM86A transmembrane protein 86A gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1601825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 11939390 TMEM86A transmembrane protein 86A gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1601825 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 11939390 TMEM86A transmembrane protein 86A gene DOID:1059 intellectual disability ISO RGD:1601825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11939390 TMEM86A transmembrane protein 86A gene DOID:630 genetic disease ISO RGD:1601825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939398 NPAS1 neuronal PAS domain protein 1 gene DOID:630 genetic disease ISO RGD:1320711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939413 KIF22 kinesin family member 22 gene DOID:0060019 coronin-1A deficiency ISO RGD:1323577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11939413 KIF22 kinesin family member 22 gene DOID:0060041 autism spectrum disorder ISO RGD:1323577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 11939413 KIF22 kinesin family member 22 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1323577 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 11939413 KIF22 kinesin family member 22 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1323577 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 11939413 KIF22 kinesin family member 22 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1323577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11939413 KIF22 kinesin family member 22 gene DOID:0112199 spondyloepimetaphyseal dysplasia with joint laxity type 2 ISO RGD:1323577 D RGD:7240710 20180130 OMIM 11939413 KIF22 kinesin family member 22 gene DOID:0112199 spondyloepimetaphyseal dysplasia with joint laxity type 2 ISO RGD:1323577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with multiple dislocations PMID:12727876|PMID:19277648|PMID:22152677|PMID:22152678|PMID:25256152|PMID:25741868|PMID:28492532|PMID:32860008 11939413 KIF22 kinesin family member 22 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1323577 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 11939413 KIF22 kinesin family member 22 gene DOID:12849 autistic disorder ISO RGD:1323577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11939413 KIF22 kinesin family member 22 gene DOID:1882 atrial heart septal defect ISO RGD:1323577 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 11939413 KIF22 kinesin family member 22 gene DOID:5419 schizophrenia ISO RGD:1323577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11939413 KIF22 kinesin family member 22 gene DOID:630 genetic disease ISO RGD:1323577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12727876|PMID:19277648|PMID:22152677|PMID:22152678|PMID:25256152|PMID:25741868|PMID:28166811|PMID:28492532|PMID:32860008 11939413 KIF22 kinesin family member 22 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11939413 KIF22 kinesin family member 22 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1323577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11939413 KIF22 kinesin family member 22 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1323577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 11939436 TEKT5 tektin 5 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1605283 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 11939436 TEKT5 tektin 5 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1605283 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 11939436 TEKT5 tektin 5 gene DOID:5419 schizophrenia ISO RGD:1605283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 11939436 TEKT5 tektin 5 gene DOID:5812 MHC class II deficiency ISO RGD:1605283 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:26271388|PMID:28492532|PMID:8402893|PMID:9099848 11939436 TEKT5 tektin 5 gene DOID:630 genetic disease ISO RGD:1605283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939458 BTN3A1 butyrophilin subfamily 3 member A1 gene DOID:630 genetic disease ISO RGD:1346965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939485 IPO11 importin 11 gene DOID:630 genetic disease ISO RGD:1322430 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939522 ZNF879 zinc finger protein 879 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:3029695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 11939522 ZNF879 zinc finger protein 879 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:3029695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11939522 ZNF879 zinc finger protein 879 gene DOID:0112103 Sotos syndrome 1 ISO RGD:3029695 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11939522 ZNF879 zinc finger protein 879 gene DOID:630 genetic disease ISO RGD:3029695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939531 PTTG1IP PTTG1 interacting protein gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1314337 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 11939531 PTTG1IP PTTG1 interacting protein gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1314337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11939531 PTTG1IP PTTG1 interacting protein gene DOID:0110266 cataract 9 multiple types ISO RGD:1314337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11939531 PTTG1IP PTTG1 interacting protein gene DOID:12849 autistic disorder ISO RGD:1314337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11939531 PTTG1IP PTTG1 interacting protein gene DOID:630 genetic disease ISO RGD:1314337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939531 PTTG1IP PTTG1 interacting protein gene DOID:891 progressive myoclonus epilepsy ISO RGD:1314337 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11939531 PTTG1IP PTTG1 interacting protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11939531 PTTG1IP PTTG1 interacting protein gene DOID:9263 homocystinuria ISO RGD:1314337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11939531 PTTG1IP PTTG1 interacting protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:1314337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11939543 GCHFR GTP cyclohydrolase I feedback regulator gene DOID:2717 Bloom syndrome ISO RGD:1349515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11939543 GCHFR GTP cyclohydrolase I feedback regulator gene DOID:630 genetic disease ISO RGD:1349515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939543 GCHFR GTP cyclohydrolase I feedback regulator gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11939543 GCHFR GTP cyclohydrolase I feedback regulator gene DOID:9256 colorectal cancer ISO RGD:1349515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11939550 TARM1 T cell-interacting, activating receptor on myeloid cells 1 gene DOID:630 genetic disease ISO RGD:3399181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939558 PSMA3 proteasome 20S subunit alpha 3 gene DOID:0050553 JMP syndrome ISO RGD:732188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC PMID:21953331|PMID:26524591 11939558 PSMA3 proteasome 20S subunit alpha 3 gene DOID:0110992 Joubert syndrome 23 ISO RGD:732188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 23 PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532 11939558 PSMA3 proteasome 20S subunit alpha 3 gene DOID:630 genetic disease ISO RGD:732188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11939573 NLRP11 NLR family pyrin domain containing 11 gene DOID:630 genetic disease ISO RGD:1349443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939607 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:0060163 body dysmorphic disorder ISO RGD:1317328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 11939607 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:0080227 autosomal dominant intellectual developmental disorder 55 ISO RGD:1317328 D RGD:7240710 20190315 OMIM 11939607 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:0080227 autosomal dominant intellectual developmental disorder 55 ISO RGD:1317328 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 55, WITH SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES PMID:16199547|PMID:25066056|PMID:25741868|PMID:28492532|PMID:29100083|PMID:31656175|PMID:32485575 11939607 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1317328 D RGD:7240710 20190315 OMIM 11939607 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1317328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type 1aa | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:16199547|PMID:17576681|PMID:25066056|PMID:25741868|PMID:28492532|PMID:29100083|PMID:30348779|PMID:31273557|PMID:9536098 11939607 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:1059 intellectual disability ISO RGD:1317328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 11939607 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:10603 glucose intolerance ISO RGD:1317328 D RGD:9068941 20211112 CTD CTD Direct Evidence: therapeutic PMID:33812996 11939607 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:10907 microcephaly ISO RGD:1317328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130|PMID:25741868 11939607 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:12849 autistic disorder ISO RGD:1317328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:24824130 11939607 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:1826 epilepsy ISO RGD:1317328 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11939607 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:1909 melanoma ISO RGD:1317328 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11939607 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:4195 hyperglycemia ISO RGD:1317328 D RGD:9068941 20211112 CTD CTD Direct Evidence: therapeutic PMID:33812996 11939607 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:5212 congenital disorder of glycosylation ISO RGD:1317328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:25066056|PMID:25741868|PMID:28492532 11939607 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:630 genetic disease ISO RGD:1317328 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11939607 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:9000495 Tremor ISO RGD:1317328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 11939607 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:9004657 Weight Gain ISO RGD:1317328 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33812996 11939607 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:9006205 Animal Disease Models ISO RGD:1317328 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33812996 11939607 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1317328 D RGD:9068941 20211112 CTD CTD Direct Evidence: therapeutic PMID:33812996 11939607 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:9007692 Insulin Resistance ISO RGD:1317328 D RGD:9068941 20211112 CTD CTD Direct Evidence: therapeutic PMID:33812996 11939607 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317328 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:30718926|PMID:33812996 11939607 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:9452 fatty liver disease ISO RGD:1317328 D RGD:9068941 20211112 CTD CTD Direct Evidence: therapeutic PMID:33812996 11939616 HMBOX1 homeobox containing 1 gene DOID:630 genetic disease ISO RGD:1603011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939646 SLC4A10 solute carrier family 4 member 10 gene DOID:1059 intellectual disability ISO RGD:1348028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18413482 11939646 SLC4A10 solute carrier family 4 member 10 gene DOID:12849 autistic disorder ISO RGD:1348028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213|PMID:25741868 11939646 SLC4A10 solute carrier family 4 member 10 gene DOID:1561 cognitive disorder ISO RGD:1348028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18413482 11939646 SLC4A10 solute carrier family 4 member 10 gene DOID:1826 epilepsy ISO RGD:1348028 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18165320 11939646 SLC4A10 solute carrier family 4 member 10 gene DOID:3331 frontal lobe epilepsy ISO RGD:1348028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18413482 11939646 SLC4A10 solute carrier family 4 member 10 gene DOID:630 genetic disease ISO RGD:1348028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939646 SLC4A10 solute carrier family 4 member 10 gene DOID:9428 intracranial hypertension ISO RGD:1348028 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18165320 11939696 NOP16 NOP16 nucleolar protein gene DOID:0060071 pre-malignant neoplasm ISO RGD:1605076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11939696 NOP16 NOP16 nucleolar protein gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1605076 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11939696 NOP16 NOP16 nucleolar protein gene DOID:0112103 Sotos syndrome 1 ISO RGD:1605076 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11939696 NOP16 NOP16 nucleolar protein gene DOID:630 genetic disease ISO RGD:1605076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939696 NOP16 NOP16 nucleolar protein gene DOID:9007188 Liver Neoplasms ISO RGD:1605076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11939722 CPLANE2 ciliogenesis and planar polarity effector complex subunit 2 gene DOID:0050545 visceral heterotaxy ISO RGD:1618278 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 11939722 CPLANE2 ciliogenesis and planar polarity effector complex subunit 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603381 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11939722 CPLANE2 ciliogenesis and planar polarity effector complex subunit 2 gene DOID:14679 VACTERL association ISO RGD:1618278 D RGD:9068941 20220825 MouseDO OMIM:192350 | OMIM:276950 11939722 CPLANE2 ciliogenesis and planar polarity effector complex subunit 2 gene DOID:630 genetic disease ISO RGD:1603381 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939731 SPINK5 serine peptidase inhibitor Kazal type 5 gene DOID:0050474 Netherton syndrome ISO RGD:1315213 D RGD:7240710 20180130 OMIM 11939731 SPINK5 serine peptidase inhibitor Kazal type 5 gene DOID:0050474 Netherton syndrome ISO RGD:1315213 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Netherton disease | ClinVar Annotator: match by term: Netherton syndrome PMID:10835624|PMID:11511292|PMID:11544479|PMID:11841556|PMID:12752122|PMID:12923596|PMID:15304086|PMID:15656819|PMID:16199547|PMID:16601670|PMID:16628198|PMID:17415575|PMID:17576681|PMID:18577046|PMID:19683336|PMID:20107740|PMID:21255986|PMID:21564178|PMID:22089833|PMID:22377713|PMID:23331056|PMID:24015757|PMID:24033266|PMID:25640679|PMID:25665175|PMID:25710899|PMID:25741868|PMID:25819062|PMID:26031502|PMID:26193622|PMID:26229701|PMID:26865388|PMID:27905021|PMID:27988933|PMID:28289593|PMID:28492532|PMID:28832562|PMID:28832989|PMID:28943498|PMID:29444371|PMID:29926005|PMID:30293248|PMID:30477583|PMID:31953843|PMID:32441320|PMID:32459284|PMID:32573669|PMID:32709676|PMID:33452875|PMID:34604321|PMID:36169939|PMID:9536098 11939731 SPINK5 serine peptidase inhibitor Kazal type 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1315213 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11939731 SPINK5 serine peptidase inhibitor Kazal type 5 gene DOID:10754 otitis media ISO RGD:1315213 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to nonsyndromic otitis media PMID:11511292|PMID:25741868|PMID:26865388|PMID:28492532|PMID:32709676 11939731 SPINK5 serine peptidase inhibitor Kazal type 5 gene DOID:630 genetic disease ISO RGD:1315213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11939731 SPINK5 serine peptidase inhibitor Kazal type 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11939731 SPINK5 serine peptidase inhibitor Kazal type 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11939731 SPINK5 serine peptidase inhibitor Kazal type 5 gene DOID:9006215 Exfoliative Dermatitis ISO RGD:1315213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Erythroderma PMID:15304086|PMID:19683336|PMID:21255986|PMID:22089833|PMID:22377713|PMID:25665175|PMID:25741868|PMID:26229701|PMID:28289593|PMID:28492532 11939731 SPINK5 serine peptidase inhibitor Kazal type 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315213 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11939788 TM2D1 TM2 domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1602315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11939788 TM2D1 TM2 domain containing 1 gene DOID:630 genetic disease ISO RGD:1602315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939799 TRIM62 tripartite motif containing 62 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1346151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11939799 TRIM62 tripartite motif containing 62 gene DOID:630 genetic disease ISO RGD:1346151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939810 STX4 syntaxin 4 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:731468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11939810 STX4 syntaxin 4 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:731468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:25362483|PMID:26818399|PMID:28492532 11939810 STX4 syntaxin 4 gene DOID:10003 sensorineural hearing loss ISO RGD:731468 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:30311386 11939810 STX4 syntaxin 4 gene DOID:630 genetic disease ISO RGD:731468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939810 STX4 syntaxin 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11939829 SUPT20H SPT20 homolog, SAGA complex component gene DOID:630 genetic disease ISO RGD:1343879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939829 SUPT20H SPT20 homolog, SAGA complex component gene DOID:7148 rheumatoid arthritis ISO RGD:1343879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis 11939894 AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase gene DOID:1059 intellectual disability ISO RGD:1322778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11939894 AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase gene DOID:12704 ataxia telangiectasia ISO RGD:1322778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11939894 AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase gene DOID:630 genetic disease ISO RGD:1322778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939894 AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11939904 ADAMTS16 ADAM metallopeptidase with thrombospondin type 1 motif 16 gene DOID:10763 hypertension ISO RGD:1310046 D RGD:9068941 20200609 RGD PMID:23185005|REF_RGD_ID:9685162 11939904 ADAMTS16 ADAM metallopeptidase with thrombospondin type 1 motif 16 gene DOID:11383 cryptorchidism ISO RGD:1310046 D RGD:9068941 20201211 RGD PMID:24983376|PMID:32037220|REF_RGD_ID:13434925|REF_RGD_ID:38548917 11939904 ADAMTS16 ADAM metallopeptidase with thrombospondin type 1 motif 16 gene DOID:12336 male infertility ISO RGD:1310046 D RGD:9068941 20201211 RGD PMID:24983376|PMID:32037220|REF_RGD_ID:13434925|REF_RGD_ID:38548917 11939904 ADAMTS16 ADAM metallopeptidase with thrombospondin type 1 motif 16 gene DOID:630 genetic disease ISO RGD:1320722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939904 ADAMTS16 ADAM metallopeptidase with thrombospondin type 1 motif 16 gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:1320722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 11939936 OPN5 opsin 5 gene DOID:630 genetic disease ISO RGD:737573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939947 SLC12A7 solute carrier family 12 member 7 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1348814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 11939947 SLC12A7 solute carrier family 12 member 7 gene DOID:0060041 autism spectrum disorder ISO RGD:1348814 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11939947 SLC12A7 solute carrier family 12 member 7 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1348814 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 11939947 SLC12A7 solute carrier family 12 member 7 gene DOID:11054 urinary bladder cancer ISO RGD:1348814 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 11939947 SLC12A7 solute carrier family 12 member 7 gene DOID:630 genetic disease ISO RGD:1348814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11939947 SLC12A7 solute carrier family 12 member 7 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1348814 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 11939975 ATF6B activating transcription factor 6 beta gene DOID:0050553 JMP syndrome ISO RGD:1346168 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11939975 ATF6B activating transcription factor 6 beta gene DOID:630 genetic disease ISO RGD:1346168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940008 CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1354258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Situs ambiguus 11940008 CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1354258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:25741868 11940008 CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 gene DOID:0050580 hereditary lymphedema ISO RGD:1354258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary lymphedema PMID:25741868|PMID:31215153 11940008 CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1354258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11940008 CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 gene DOID:1059 intellectual disability ISO RGD:1354258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11940008 CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 gene DOID:2843 long QT syndrome ISO RGD:1354258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11940008 CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 gene DOID:630 genetic disease ISO RGD:1354258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940008 CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 gene DOID:758 situs inversus ISO RGD:1354258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence 11940008 CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 gene DOID:9009156 Lymphatic Malformation 9 ISO RGD:1354258 D RGD:7240710 20210526 OMIM 11940008 CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 gene DOID:9009156 Lymphatic Malformation 9 ISO RGD:1354258 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 9 PMID:25741868|PMID:26855770|PMID:28492532|PMID:31215153|PMID:31403174 11940059 SPAAR small regulatory polypeptide of amino acid response gene DOID:0080942 anauxetic dysplasia ISO RGD:7246751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11940084 LOXL1 lysyl oxidase like 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1318705 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11940084 LOXL1 lysyl oxidase like 1 gene DOID:1070 primary open angle glaucoma ISO RGD:1318705 D RGD:9068941 20200611 RGD DNA:SNP, haplotype: :rs1048661, rs2165241, rs3825942 (human) PMID:19098994|REF_RGD_ID:7387330 11940084 LOXL1 lysyl oxidase like 1 gene DOID:1070 primary open angle glaucoma no_association ISO RGD:1318705 D RGD:9068941 20200611 RGD DNA:SNPs: :rs1048661, rs2165241, rs3825942 (human) PMID:18223248|REF_RGD_ID:7394723 11940084 LOXL1 lysyl oxidase like 1 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:1318705 D RGD:9068941 20200611 RGD DNA:SNP:exon:p.R141L (human) PMID:21236409|REF_RGD_ID:7387334 11940084 LOXL1 lysyl oxidase like 1 gene DOID:11054 urinary bladder cancer ISO RGD:1318705 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:17456585 11940084 LOXL1 lysyl oxidase like 1 gene DOID:13550 angle-closure glaucoma no_association ISO RGD:1318705 D RGD:9068941 20200611 RGD DNA:SNPs: :rs1048661, rs2165241, rs3825942 (human) PMID:18223248|REF_RGD_ID:7394723 11940084 LOXL1 lysyl oxidase like 1 gene DOID:13641 exfoliation syndrome ISO RGD:1318705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exfoliation syndrome, susceptibility to PMID:17690259|PMID:18037624|PMID:19343041 11940084 LOXL1 lysyl oxidase like 1 gene DOID:13641 exfoliation syndrome no_association ISO RGD:1318705 D RGD:9068941 20200611 RGD DNA:CNVs PMID:23288989|REF_RGD_ID:7387333 11940084 LOXL1 lysyl oxidase like 1 gene DOID:13641 exfoliation syndrome susceptibility ISO RGD:1318705 D RGD:7240710 20200610 OMIM 11940084 LOXL1 lysyl oxidase like 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1318705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11940084 LOXL1 lysyl oxidase like 1 gene DOID:2717 Bloom syndrome ISO RGD:1318705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11940084 LOXL1 lysyl oxidase like 1 gene DOID:3320 Tay-Sachs disease ISO RGD:1318705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 11940084 LOXL1 lysyl oxidase like 1 gene DOID:5082 liver cirrhosis ISO RGD:1318705 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:30097701 11940084 LOXL1 lysyl oxidase like 1 gene DOID:5419 schizophrenia ISO RGD:1318705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11940084 LOXL1 lysyl oxidase like 1 gene DOID:630 genetic disease ISO RGD:1318705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940084 LOXL1 lysyl oxidase like 1 gene DOID:9001044 Choroidal Neovascularization ISO RGD:1318706 D RGD:9068941 20200611 RGD PMID:18296663|REF_RGD_ID:7394725 11940084 LOXL1 lysyl oxidase like 1 gene DOID:9001330 Urinary Incontinence, Stress ISO RGD:1318705 D RGD:9068941 20200611 RGD DNA:SNPs, haplotype:exon, intron:rs1048661, rs2165241 (human) PMID:22765198|REF_RGD_ID:7394729 11940084 LOXL1 lysyl oxidase like 1 gene DOID:9003936 Cardiomegaly ISO RGD:1308752 D RGD:9068941 20200611 RGD PMID:17378376|REF_RGD_ID:7394734 11940084 LOXL1 lysyl oxidase like 1 gene DOID:9007023 Prenatal Injuries ISO RGD:1318705 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:20045017 11940084 LOXL1 lysyl oxidase like 1 gene DOID:9256 colorectal cancer ISO RGD:1318705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11940094 BDKRB2 bradykinin receptor B2 gene DOID:0050700 cardiomyopathy ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10614985 11940094 BDKRB2 bradykinin receptor B2 gene DOID:0060903 thrombosis ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16514058 11940094 BDKRB2 bradykinin receptor B2 gene DOID:10247 pleurisy ISO RGD:10232 D RGD:9068941 20200609 RGD PMID:15316088|REF_RGD_ID:4891029 11940094 BDKRB2 bradykinin receptor B2 gene DOID:10247 pleurisy ISO RGD:2201 D RGD:9068941 20200609 RGD PMID:9208140|REF_RGD_ID:4891041 11940094 BDKRB2 bradykinin receptor B2 gene DOID:10762 portal hypertension ISO RGD:2201 D RGD:9068941 20200609 RGD PMID:19950773|REF_RGD_ID:4891055 11940094 BDKRB2 bradykinin receptor B2 gene DOID:10763 hypertension ISO RGD:2201 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus PMID:12025958|REF_RGD_ID:704378 11940094 BDKRB2 bradykinin receptor B2 gene DOID:10763 hypertension ISO RGD:2201 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:11934804|REF_RGD_ID:4890455 11940094 BDKRB2 bradykinin receptor B2 gene DOID:10763 hypertension ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10614985 11940094 BDKRB2 bradykinin receptor B2 gene DOID:10763 hypertension ISO RGD:737386 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-58T>C (human) PMID:10904024|REF_RGD_ID:4891034 11940094 BDKRB2 bradykinin receptor B2 gene DOID:11446 sciatic neuropathy ISO RGD:2201 D RGD:9068941 20200609 RGD PMID:18182225|REF_RGD_ID:5129227 11940094 BDKRB2 bradykinin receptor B2 gene DOID:1826 epilepsy ISO RGD:2201 D RGD:9068941 20200609 RGD PMID:12746865|REF_RGD_ID:704381 11940094 BDKRB2 bradykinin receptor B2 gene DOID:2224 essential thrombocythemia ISO RGD:737386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 11940094 BDKRB2 bradykinin receptor B2 gene DOID:2841 asthma ISO RGD:2201 D RGD:9068941 20200609 RGD PMID:14727005|REF_RGD_ID:4890454 11940094 BDKRB2 bradykinin receptor B2 gene DOID:2841 asthma ISO RGD:737386 D RGD:9068941 20200609 RGD PMID:8856156|REF_RGD_ID:4891042 11940094 BDKRB2 bradykinin receptor B2 gene DOID:2841 asthma ISO RGD:737386 D RGD:9068941 20200609 RGD protein:increased expression:blood, eosinophil PMID:19038786|REF_RGD_ID:4891028 11940094 BDKRB2 bradykinin receptor B2 gene DOID:2841 asthma onset ISO RGD:737386 D RGD:9068941 20200609 RGD DNA:polymorphism:exon (human) PMID:11517947|REF_RGD_ID:4890456 11940094 BDKRB2 bradykinin receptor B2 gene DOID:3021 acute kidney failure ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24975837 11940094 BDKRB2 bradykinin receptor B2 gene DOID:3070 high grade glioma ISO RGD:2201 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:20080302|REF_RGD_ID:4891047 11940094 BDKRB2 bradykinin receptor B2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737386 D RGD:9068941 20200609 RGD PMID:16600946|REF_RGD_ID:4890451 11940094 BDKRB2 bradykinin receptor B2 gene DOID:3328 temporal lobe epilepsy ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15196965 11940094 BDKRB2 bradykinin receptor B2 gene DOID:4404 occupational dermatitis ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30685357 11940094 BDKRB2 bradykinin receptor B2 gene DOID:4483 rhinitis ISO RGD:737386 D RGD:9068941 20200609 RGD PMID:11149999|PMID:1890650|REF_RGD_ID:4891033|REF_RGD_ID:4891044 11940094 BDKRB2 bradykinin receptor B2 gene DOID:4971 myelofibrosis ISO RGD:737386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis 11940094 BDKRB2 bradykinin receptor B2 gene DOID:4989 pancreatitis ISO RGD:2201 D RGD:9068941 20200609 RGD PMID:7791078|REF_RGD_ID:4891025 11940094 BDKRB2 bradykinin receptor B2 gene DOID:552 pneumonia ISO RGD:10232 D RGD:9068941 20200609 RGD PMID:15021973|REF_RGD_ID:4891030 11940094 BDKRB2 bradykinin receptor B2 gene DOID:5844 myocardial infarction ISO RGD:2201 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:12489796|REF_RGD_ID:704379 11940094 BDKRB2 bradykinin receptor B2 gene DOID:630 genetic disease ISO RGD:737386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940094 BDKRB2 bradykinin receptor B2 gene DOID:6432 pulmonary hypertension ISO RGD:2201 D RGD:9068941 20200609 RGD PMID:15878794|REF_RGD_ID:4890453 11940094 BDKRB2 bradykinin receptor B2 gene DOID:7148 rheumatoid arthritis ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 11940094 BDKRB2 bradykinin receptor B2 gene DOID:850 lung disease ISO RGD:2201 D RGD:9068941 20200609 RGD Lung Injury associated with Endotoxemia PMID:10702448|REF_RGD_ID:4890457 11940094 BDKRB2 bradykinin receptor B2 gene DOID:9000352 Vascular System Injuries ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16982965 11940094 BDKRB2 bradykinin receptor B2 gene DOID:9000641 Pain ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20152050 11940094 BDKRB2 bradykinin receptor B2 gene DOID:9001371 Eosinophilia ISO RGD:10232 D RGD:9068941 20200609 RGD PMID:10385260|REF_RGD_ID:4891039 11940094 BDKRB2 bradykinin receptor B2 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:10232 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17596525|REF_RGD_ID:2313335 11940094 BDKRB2 bradykinin receptor B2 gene DOID:9002211 Hyperalgesia ISO RGD:2201 D RGD:9068941 20200609 RGD PMID:10188975|REF_RGD_ID:4891040 11940094 BDKRB2 bradykinin receptor B2 gene DOID:9002211 Hyperalgesia ISO RGD:2201 D RGD:9068941 20200609 RGD associated with Diabetic Neuropathy PMID:19300402|REF_RGD_ID:2313332 11940094 BDKRB2 bradykinin receptor B2 gene DOID:9002211 Hyperalgesia ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17989505|PMID:19300402|PMID:19815945 11940094 BDKRB2 bradykinin receptor B2 gene DOID:9002661 Diabetes Complications ISO RGD:10232 D RGD:9068941 20200609 RGD PMID:20479236|REF_RGD_ID:7241550 11940094 BDKRB2 bradykinin receptor B2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:2201 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:12489796|REF_RGD_ID:704379 11940094 BDKRB2 bradykinin receptor B2 gene DOID:9005372 Inflammation ISO RGD:10232 D RGD:9068941 20200609 RGD associated with Asthma PMID:15021973|REF_RGD_ID:4891030 11940094 BDKRB2 bradykinin receptor B2 gene DOID:9005372 Inflammation ISO RGD:2201 D RGD:9068941 20200609 RGD PMID:7791078|REF_RGD_ID:4891025 11940094 BDKRB2 bradykinin receptor B2 gene DOID:9005372 Inflammation ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20152050 11940094 BDKRB2 bradykinin receptor B2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2201 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:12489796|REF_RGD_ID:704379 11940094 BDKRB2 bradykinin receptor B2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2201 D RGD:9068941 20200609 RGD protein:increased expression:hindbrain, spinal cord PMID:16138314|REF_RGD_ID:4890452 11940094 BDKRB2 bradykinin receptor B2 gene DOID:9006024 Hypotension ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1334354|PMID:16321614 11940094 BDKRB2 bradykinin receptor B2 gene DOID:9006024 Hypotension ISO RGD:737386 D RGD:9068941 20200609 RGD PMID:9039147|REF_RGD_ID:4891024 11940094 BDKRB2 bradykinin receptor B2 gene DOID:9006205 Animal Disease Models ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30685357 11940094 BDKRB2 bradykinin receptor B2 gene DOID:9007073 Cough ISO RGD:737386 D RGD:9068941 20200609 RGD DNA:SNP: :rs8012552 (human) PMID:21052031|REF_RGD_ID:4891026 11940094 BDKRB2 bradykinin receptor B2 gene DOID:9007073 Cough ISO RGD:737386 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-58T>C (human) PMID:10904024|REF_RGD_ID:4891034 11940094 BDKRB2 bradykinin receptor B2 gene DOID:9007073 Cough ISO RGD:737386 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:12522467|REF_RGD_ID:4891031 11940094 BDKRB2 bradykinin receptor B2 gene DOID:9007073 Cough no_association ISO RGD:737386 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-58T>C (human) PMID:11699055|REF_RGD_ID:4891032 11940094 BDKRB2 bradykinin receptor B2 gene DOID:9007073 Cough no_association ISO RGD:737386 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:19744011|REF_RGD_ID:4891027 11940094 BDKRB2 bradykinin receptor B2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30685357 11940094 BDKRB2 bradykinin receptor B2 gene DOID:9008217 Hemorrhage ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16514058 11940094 BDKRB2 bradykinin receptor B2 gene DOID:9008511 Extravasation of Diagnostic and Therapeutic Materials ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9622145 11940094 BDKRB2 bradykinin receptor B2 gene DOID:9008887 Microvascular Angina ISO RGD:737386 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, mononuclear cell PMID:17852785|REF_RGD_ID:4890450 11940094 BDKRB2 bradykinin receptor B2 gene DOID:9009039 Hyperemia ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11837250 11940094 BDKRB2 bradykinin receptor B2 gene DOID:9119 acute myeloid leukemia ISO RGD:737386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 11940109 KIF20B kinesin family member 20B gene DOID:10907 microcephaly ISO RGD:1318299 D RGD:9068941 20220825 MouseDO OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 11940109 KIF20B kinesin family member 20B gene DOID:630 genetic disease ISO RGD:1318298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940148 IFIH1 interferon induced with helicase C domain 1 gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1347526 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24686847 11940148 IFIH1 interferon induced with helicase C domain 1 gene DOID:0060025 immunoglobulin alpha deficiency ISO RGD:1347526 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20694011|PMID:27723758 11940148 IFIH1 interferon induced with helicase C domain 1 gene DOID:0080600 COVID-19 ISO RGD:1347526 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11940148 IFIH1 interferon induced with helicase C domain 1 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1347526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children PMID:25741868|PMID:28492532|PMID:34185153 11940148 IFIH1 interferon induced with helicase C domain 1 gene DOID:0081013 severe COVID-19 ISO RGD:1347526 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to severe COVID-19 PMID:25741868|PMID:28492532 11940148 IFIH1 interferon induced with helicase C domain 1 gene DOID:10283 prostate cancer ISO RGD:1347526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11940148 IFIH1 interferon induced with helicase C domain 1 gene DOID:12306 vitiligo ISO RGD:1347526 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 11940148 IFIH1 interferon induced with helicase C domain 1 gene DOID:12361 Graves' disease ISO RGD:1347526 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17535987 11940148 IFIH1 interferon induced with helicase C domain 1 gene DOID:12849 autistic disorder ISO RGD:1347526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213|PMID:25741868 11940148 IFIH1 interferon induced with helicase C domain 1 gene DOID:2365 West Nile encephalitis ISO RGD:1557966 D RGD:9068941 20210423 RGD mRNA:increased expression:brain PMID:24173226|REF_RGD_ID:126781836 11940148 IFIH1 interferon induced with helicase C domain 1 gene DOID:630 genetic disease ISO RGD:1347526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11940148 IFIH1 interferon induced with helicase C domain 1 gene DOID:8893 psoriasis ISO RGD:1347526 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953190 11940148 IFIH1 interferon induced with helicase C domain 1 gene DOID:9000371 influenza A ISO RGD:1557966 D RGD:9068941 20210122 RGD mRNA:increased expression:nasal cavity mucosa (mouse) PMID:25751630|REF_RGD_ID:40925925 11940148 IFIH1 interferon induced with helicase C domain 1 gene DOID:9001488 Human Influenza ISO RGD:1347526 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11940148 IFIH1 interferon induced with helicase C domain 1 gene DOID:9002571 Aicardi-Goutieres Syndrome 7 ISO RGD:1347526 D RGD:7240710 20180130 OMIM 11940148 IFIH1 interferon induced with helicase C domain 1 gene DOID:9002571 Aicardi-Goutieres Syndrome 7 ISO RGD:1347526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 PMID:21070929|PMID:24686847|PMID:24995871|PMID:25243380|PMID:25620204|PMID:25741868|PMID:26284909|PMID:26833990|PMID:28319323|PMID:28492532|PMID:28605144|PMID:29782060|PMID:30219631|PMID:30593198|PMID:30965144|PMID:31178897|PMID:31898846|PMID:34185153|PMID:34539730 11940148 IFIH1 interferon induced with helicase C domain 1 gene DOID:9003885 Singleton-Merten Syndrome 1 ISO RGD:1347526 D RGD:7240710 20190327 OMIM 11940148 IFIH1 interferon induced with helicase C domain 1 gene DOID:9003885 Singleton-Merten Syndrome 1 ISO RGD:1347526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Singleton-Merten syndrome 1 PMID:16199547|PMID:17576681|PMID:21070929|PMID:24686847|PMID:24995871|PMID:25620204|PMID:25741868|PMID:26833990|PMID:27577878|PMID:28319323|PMID:28475458|PMID:28492532|PMID:28606988|PMID:28716935|PMID:29018476|PMID:29270977|PMID:30219631|PMID:30564185|PMID:30707351|PMID:31178897|PMID:31898846|PMID:33440462|PMID:34185153|PMID:34539730|PMID:9536098 11940148 IFIH1 interferon induced with helicase C domain 1 gene DOID:9005219 Abnormal Reflexes ISO RGD:1347526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperreflexia PMID:24686847|PMID:24995871|PMID:25741868|PMID:26833990|PMID:28492532|PMID:31898846 11940148 IFIH1 interferon induced with helicase C domain 1 gene DOID:9006705 Immunodeficiency 95 ISO RGD:1347526 D RGD:7240710 20220316 OMIM 11940148 IFIH1 interferon induced with helicase C domain 1 gene DOID:9006705 Immunodeficiency 95 ISO RGD:1347526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 95 PMID:25741868|PMID:28492532|PMID:28606988|PMID:28716935|PMID:29018476|PMID:34185153 11940148 IFIH1 interferon induced with helicase C domain 1 gene DOID:9007096 Stroke ISO RGD:1347526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stroke PMID:25620204|PMID:25741868|PMID:28475458|PMID:28492532 11940148 IFIH1 interferon induced with helicase C domain 1 gene DOID:9007304 Singleton Merten Syndrome ISO RGD:1347526 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11940148 IFIH1 interferon induced with helicase C domain 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1347526 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838195|PMID:24686847 11940148 IFIH1 interferon induced with helicase C domain 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1557966 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 11940168 AKR7A2 aldo-keto reductase family 7 member A2 gene DOID:0060041 autism spectrum disorder ISO RGD:732683 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11940168 AKR7A2 aldo-keto reductase family 7 member A2 gene DOID:0060369 Parkinson's disease 6 ISO RGD:732683 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11940168 AKR7A2 aldo-keto reductase family 7 member A2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:732683 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11940168 AKR7A2 aldo-keto reductase family 7 member A2 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:732683 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11940168 AKR7A2 aldo-keto reductase family 7 member A2 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:732683 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11940168 AKR7A2 aldo-keto reductase family 7 member A2 gene DOID:10652 Alzheimer's disease ISO RGD:732683 D RGD:9068941 20230427 RGD protein:increased expression:superior, middle temporal gyrus; PMID:11597610|REF_RGD_ID:14349051 11940168 AKR7A2 aldo-keto reductase family 7 member A2 gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:732683 D RGD:9068941 20230427 RGD protein:increased expression:pancreas PMID:19077459|REF_RGD_ID:2325696 11940168 AKR7A2 aldo-keto reductase family 7 member A2 gene DOID:630 genetic disease ISO RGD:732683 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940168 AKR7A2 aldo-keto reductase family 7 member A2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:732683 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11940179 ZDHHC15 zinc finger DHHC-type palmitoyltransferase 15 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11940179 ZDHHC15 zinc finger DHHC-type palmitoyltransferase 15 gene DOID:0112043 non-syndromic X-linked intellectual disability 91 ISO RGD:1345155 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked 91 PMID:15915161|PMID:25741868 11940179 ZDHHC15 zinc finger DHHC-type palmitoyltransferase 15 gene DOID:10965 spastic diplegia ISO RGD:1345155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic diplegia 11940179 ZDHHC15 zinc finger DHHC-type palmitoyltransferase 15 gene DOID:12849 autistic disorder ISO RGD:1345155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11940179 ZDHHC15 zinc finger DHHC-type palmitoyltransferase 15 gene DOID:630 genetic disease ISO RGD:1345155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0050157 cryptogenic organizing pneumonia ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:lung, macrophage (human) PMID:21144722|REF_RGD_ID:5131112 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0050834 CHARGE syndrome ISO RGD:737288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CHARGE association 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0050848 obstructive sleep apnea ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19148690|REF_RGD_ID:5131433 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0050855 renal fibrosis ISO RGD:734247 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:10564241|REF_RGD_ID:7245536 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0050860 colorectal adenoma ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum, colorectal mucosa, epithelial cell PMID:23082052|REF_RGD_ID:13217413 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:737288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 ISO RGD:737288 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 PMID:25741868 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0080160 cytomegalovirus retinitis ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:17389501|REF_RGD_ID:7394808 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0080162 lupus nephritis ISO RGD:737288 D RGD:9068941 20200609 RGD PMID:10906156|REF_RGD_ID:7245572 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0080162 lupus nephritis severity ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:19201910|REF_RGD_ID:7245569 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0080526 bronchiectasis 1 ISO RGD:737288 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 PMID:25741868 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0080600 COVID-19 ISO RGD:737288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease (COVID-19) PMID:22801493|PMID:24033266|PMID:25741868|PMID:28492532 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:737288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0080745 polymyositis severity ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11055823|REF_RGD_ID:8661747 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0090018 autosomal dominant familial periodic fever ISO RGD:737288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) PMID:10199409|PMID:10902757|PMID:11175303|PMID:1144354|PMID:11443543|PMID:11700162|PMID:11722598|PMID:11817598|PMID:12209523|PMID:12352631|PMID:12520003|PMID:12905494|PMID:13130484|PMID:1402641|PMID:14610673|PMID:15216558|PMID:15228183|PMID:15280569|PMID:15312137|PMID:15492850|PMID:16199547|PMID:16508982|PMID:16635178|PMID:16684962|PMID:16707534|PMID:17576681|PMID:18180277|PMID:18408954|PMID:18512793|PMID:19541728|PMID:19917181|PMID:20457915|PMID:20532935|PMID:20576331|PMID:21029567|PMID:21113948|PMID:21420073|PMID:22311714|PMID:22343913|PMID:22566169|PMID:22801493|PMID:22918594|PMID:23117241|PMID:23322460|PMID:23745996|PMID:23965844|PMID:24033266|PMID:24064022|PMID:24251727|PMID:24295430|PMID:24393624|PMID:25326637|PMID:25387410|PMID:25640679|PMID:25741868|PMID:25936627|PMID:26598380|PMID:27332769|PMID:28427379|PMID:28492532|PMID:29047407|PMID:31562507|PMID:32248184|PMID:32380704|PMID:32831641|PMID:7156325|PMID:9529351|PMID:9536098|PMID:9585614 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0090018 autosomal dominant familial periodic fever susceptibility ISO RGD:737288 D RGD:7240710 20230517 OMIM 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0111621 Temtamy syndrome ISO RGD:737288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:10325 silicosis ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:11208652|REF_RGD_ID:5131150 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:10457 Legionnaires' disease ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:18838275|REF_RGD_ID:5131445 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:10652 Alzheimer's disease ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:17724122|REF_RGD_ID:13825267 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:10652 Alzheimer's disease ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:20110607|REF_RGD_ID:13825249 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:10652 Alzheimer's disease ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid: PMID:21978728|REF_RGD_ID:13825268 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:10652 Alzheimer's disease no_association ISO RGD:737288 D RGD:9068941 20200609 RGD PMID:17267158|REF_RGD_ID:13825266 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:11394 adult respiratory distress syndrome ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:11159038|REF_RGD_ID:5131147 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:11394 adult respiratory distress syndrome ISO RGD:734247 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:21512145|REF_RGD_ID:5131206 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:11394 adult respiratory distress syndrome severity ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:21070800|REF_RGD_ID:5131145 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:11394 adult respiratory distress syndrome severity ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:21283009|REF_RGD_ID:5131096 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:11446 sciatic neuropathy ISO RGD:621237 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglia (rat) PMID:11240015|REF_RGD_ID:5130963 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:11446 sciatic neuropathy ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:9582261|REF_RGD_ID:5130898 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:11832 visual epilepsy ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:23333565|REF_RGD_ID:7245573 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:1205 allergic disease ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:12236 primary biliary cholangitis ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21399635 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:734247 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21221075|REF_RGD_ID:7245511 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:13141 uveitis ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:12824249|REF_RGD_ID:5131249 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:13141 uveitis ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15746567|REF_RGD_ID:8661746 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:13141 uveitis treatment ISO RGD:737288 D RGD:9068941 20200609 RGD PMID:19440225|REF_RGD_ID:13825264 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:13166 allergic bronchopulmonary aspergillosis susceptibility ISO RGD:737288 D RGD:9068941 20200609 RGD DNA:snps:5' utr, exon:g.-609G>T rs4149570, g.36A>G rs767455 (human) PMID:20646338|REF_RGD_ID:5131174 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:13241 Behcet's disease ISO RGD:737288 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Behcet disease PMID:25741868|PMID:28492532 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:1380 endometrial cancer ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:8920779|REF_RGD_ID:5131439 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:14550 root resorption ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:22372265|REF_RGD_ID:13825431 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:1485 cystic fibrosis ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16463024 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:1520 colon carcinoma ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:1655258|REF_RGD_ID:5131434 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:1749 squamous cell carcinoma ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:15044707|REF_RGD_ID:8661739 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:224 transient cerebral ischemia ISO RGD:621237 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum,hippocampus: PMID:11412877|REF_RGD_ID:13825263 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:224 transient cerebral ischemia treatment ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:21868309|REF_RGD_ID:8661762 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:2316 brain ischemia ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:16442237|REF_RGD_ID:1624184 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:2316 brain ischemia ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:2349 arteriosclerosis susceptibility ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:17442899|REF_RGD_ID:1624181 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:2355 anemia ISO RGD:737288 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid PMID:14613268|REF_RGD_ID:10450570 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:2377 multiple sclerosis ISO RGD:737288 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to, 5 PMID:22801493|PMID:24033266|PMID:25741868|PMID:28492532 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:2377 multiple sclerosis susceptibility ISO RGD:737288 D RGD:7240710 20230517 OMIM 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:2394 ovarian cancer disease_progression ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19825522|REF_RGD_ID:2315115 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:2841 asthma ISO RGD:734247 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:20484920|REF_RGD_ID:5131201 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:2921 glomerulonephritis disease_progression ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:20525973|REF_RGD_ID:7245516 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:2921 glomerulonephritis treatment ISO RGD:737288 D RGD:9068941 20200609 RGD PMID:23400706|REF_RGD_ID:7245540 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:2935 Chediak-Higashi syndrome ISO RGD:737288 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10199409|PMID:11443543|PMID:16508982|PMID:16635178|PMID:16684962|PMID:18512793|PMID:19917181|PMID:21029567|PMID:22311714|PMID:22801493|PMID:23322460|PMID:23745996|PMID:23965844|PMID:24033266|PMID:24393624|PMID:25326637|PMID:25741868|PMID:25936627|PMID:26598380|PMID:28492532 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:2935 Chediak-Higashi syndrome ISO RGD:737288 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:10199409|PMID:11443543|PMID:16508982|PMID:16635178|PMID:16684962|PMID:18512793|PMID:19917181|PMID:21029567|PMID:22311714|PMID:22801493|PMID:23322460|PMID:23745996|PMID:23965844|PMID:24033266|PMID:24393624|PMID:25326637|PMID:25741868|PMID:25936627|PMID:26598380|PMID:28492532|PMID:32380704|PMID:32831641 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:2986 IgA glomerulonephritis ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16209246|REF_RGD_ID:6907414 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:2986 IgA glomerulonephritis treatment ISO RGD:737288 D RGD:9068941 20200609 RGD PMID:9844059|REF_RGD_ID:6909132 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:2987 familial Mediterranean fever ISO RGD:737288 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Familial Periodic Fever PMID:25741868 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:3021 acute kidney failure ISO RGD:734247 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:12023385|REF_RGD_ID:7245535 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:3021 acute kidney failure ISO RGD:737288 D RGD:9068941 20200609 RGD associated with Acute Lung Injury PMID:18074478|REF_RGD_ID:5128661 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:3021 acute kidney failure ISO RGD:737288 D RGD:9068941 20200609 RGD associated with Shock, Septic;protein:increased expression:serum PMID:12500222|REF_RGD_ID:7245534 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:3021 acute kidney failure susceptibility ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:21150875|REF_RGD_ID:7245548 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:19643942|REF_RGD_ID:5131203 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:326 ischemia ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:14970118|REF_RGD_ID:1624195 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:3355 fibrosarcoma ISO RGD:737288 D RGD:9068941 20200609 RGD human gene in mouse model PMID:10753499|REF_RGD_ID:5131435 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:3393 coronary artery disease severity ISO RGD:737288 D RGD:9068941 20200609 RGD PMID:19845893|REF_RGD_ID:5131425 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:3525 middle cerebral artery infarction ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:15647744|REF_RGD_ID:13825261 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:20824709|REF_RGD_ID:5131156 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:737288 D RGD:9068941 20200609 RGD DNA:snp:5' utr:g.-329G>T rs4149570 (human) PMID:20422457|REF_RGD_ID:5131202 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:417 autoimmune disease ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21074606 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:4450 renal cell carcinoma ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:7912320|REF_RGD_ID:5131437 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:5199 ureteral obstruction ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:19541932|REF_RGD_ID:7245519 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:5327 retinal detachment ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:21402953|REF_RGD_ID:5131257 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:552 pneumonia ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:557 kidney disease ISO RGD:737288 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid PMID:14613268|REF_RGD_ID:10450570 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:5844 myocardial infarction ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:15117889|PMID:20651834|REF_RGD_ID:1624194|REF_RGD_ID:5130975 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:5844 myocardial infarction ISO RGD:621237 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:left ventricle myocardium (rat) PMID:21362018|REF_RGD_ID:5130892 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:6000 congestive heart failure ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16360360 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:630 genetic disease ISO RGD:737288 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11443543|PMID:16508982|PMID:18512793|PMID:19917181|PMID:23322460|PMID:23745996|PMID:23965844|PMID:24393624|PMID:25741868|PMID:26598380|PMID:28492532|PMID:32380704|PMID:32831641 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:635 acquired immunodeficiency syndrome ISO RGD:737288 D RGD:9068941 20200609 RGD PMID:8548330|REF_RGD_ID:12904035 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:6543 acne ISO RGD:737288 D RGD:9068941 20200609 RGD DNA:SNP: :p,M196R (676T>G) (human) PMID:20556591|REF_RGD_ID:8661742 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:7148 rheumatoid arthritis treatment ISO RGD:737288 D RGD:9068941 20200609 RGD DNA:SNP:promoter:36G>A (human) PMID:25311255|REF_RGD_ID:12904065 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:783 end stage renal disease ISO RGD:737288 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma PMID:22266663|REF_RGD_ID:7245510 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:841 extrinsic allergic alveolitis ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:alveolar macrophage (human) PMID:15929959|REF_RGD_ID:5131148 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:874 bacterial pneumonia ISO RGD:734247 D RGD:9068941 20200609 RGD protein:increased expression:serum (mouse) PMID:19842848|REF_RGD_ID:5131429 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:8778 Crohn's disease ISO RGD:621237 D RGD:9068941 20200609 RGD protein:increased expression:large intestine mucosa (rat) PMID:21359923|REF_RGD_ID:5130893 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:8778 Crohn's disease treatment ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:22531889|REF_RGD_ID:8661753 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:8893 psoriasis treatment ISO RGD:737288 D RGD:9068941 20200609 RGD PMID:15998370|REF_RGD_ID:8661740 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9000039 Spinal Cord Injuries ISO RGD:621237 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:16083358|REF_RGD_ID:1624185 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9000099 Experimental Colitis treatment ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:21296062|REF_RGD_ID:8661763 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9000310 Lung Injury ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10781441 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9000641 Pain ISO RGD:621237 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion (rat) PMID:21248590|REF_RGD_ID:5130897 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9000972 Fever ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11175303 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9000972 Fever susceptibility ISO RGD:737288 D RGD:9068941 20200609 RGD autosomal dominant, familial, periodic fever, OMIM:142680 ;DNA:missense mutation: :p.C30S PMID:10902757|REF_RGD_ID:1624177 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9000998 Brain Injuries ISO RGD:621237 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17074049|REF_RGD_ID:1624183 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9000998 Brain Injuries ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9001109 Anorexia ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18801959 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9001472 Nasal Polyps ISO RGD:737288 D RGD:9068941 20200609 RGD mRNA:decreased expression:nasal polyp (human) PMID:19095579|REF_RGD_ID:5131442 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9001488 Human Influenza ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:17182684|REF_RGD_ID:5131157 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9001488 Human Influenza ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19497758|REF_RGD_ID:5131432 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9001553 Spinal Cord Compression ISO RGD:621237 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (rat) PMID:21224756|REF_RGD_ID:5130917 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9001579 Neurogenic Inflammation ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:23333565|REF_RGD_ID:7245573 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9002159 Liver Reperfusion Injury ISO RGD:621237 D RGD:9068941 20200609 RGD protein:increased localization:mitochondrion PMID:23423194|REF_RGD_ID:8661760 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9002165 Diabetic Nephropathies ISO RGD:737288 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:serum PMID:19073786|REF_RGD_ID:2311357 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9002165 Diabetic Nephropathies ISO RGD:737288 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:22042131|REF_RGD_ID:7245547 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9002211 Hyperalgesia ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:12752784|REF_RGD_ID:5130913 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9002211 Hyperalgesia ISO RGD:621237 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:22652595|REF_RGD_ID:8661750 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9002211 Hyperalgesia ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:20417692|PMID:21145890|REF_RGD_ID:5130939|REF_RGD_ID:8661726 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9002211 Hyperalgesia treatment ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:21712071|REF_RGD_ID:8548873 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9002211 Hyperalgesia treatment ISO RGD:621237 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:24257399|REF_RGD_ID:8661737 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9002457 Experimental Arthritis treatment ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:21690068|PMID:23052485|REF_RGD_ID:7245941|REF_RGD_ID:8661761 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9002457 Experimental Arthritis treatment ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:20370892|REF_RGD_ID:8661729 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9002992 Nematode Infections ISO RGD:621237 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:20695884|REF_RGD_ID:5130965 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis severity ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum, granulocyte PMID:19690440|REF_RGD_ID:7245518 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9004009 Reperfusion Injury ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:17109621|REF_RGD_ID:1624182 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:737288 D RGD:9068941 20200609 RGD PMID:21152182|REF_RGD_ID:8661764 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9004994 Embryo Loss ISO RGD:734247 D RGD:9068941 20221117 RGD PMID:22972987|REF_RGD_ID:155663421 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9005532 Muscle Weakness ISO RGD:734247 D RGD:9068941 20200609 RGD Diaphragm Weakness PMID:21097524|REF_RGD_ID:5130943 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621237 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:21481476|REF_RGD_ID:5131250 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12193562 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:734247 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:22728466|REF_RGD_ID:7245543 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9006549 Enterovirus Infections ISO RGD:734247 D RGD:9068941 20200609 RGD Rhinovirus Infections PMID:19864593|REF_RGD_ID:5131210 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:19635911|REF_RGD_ID:8661744 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9006646 Metabolic Syndrome ISO RGD:737288 D RGD:9068941 20200609 RGD associated with obesity;protein:increased expression:plasma PMID:17200772|REF_RGD_ID:1624178 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9007346 Cachexia ISO RGD:621237 D RGD:9068941 20200609 RGD associated with Carcinoma, Hepatocellular;protein, mRNA:increased expression:skeletal muscle, adipose tissue PMID:16077938|REF_RGD_ID:1624190 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9007346 Cachexia ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18801959 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9007417 Pseudomonas Infections ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:20448050|REF_RGD_ID:5131427 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9007480 Hyperoxia ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10781441 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:621237 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15164724|REF_RGD_ID:1580295 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9007692 Insulin Resistance ISO RGD:737288 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression PMID:11882518|REF_RGD_ID:1624180 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9007956 Febrile Seizures ISO RGD:737288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Febrile seizures PMID:25741868|PMID:28492532 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:737288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9007996 End Stage Liver Disease treatment ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:23874752|REF_RGD_ID:8661754 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9008091 Optic Nerve Injuries ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:18552980|REF_RGD_ID:7794683 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9008091 Optic Nerve Injuries ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:14697498|REF_RGD_ID:8661743 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9008604 Radiation Pneumonitis ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:18347190|REF_RGD_ID:5131153 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9074 systemic lupus erythematosus severity ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:8393677|REF_RGD_ID:7245539 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9120 amyloidosis ISO RGD:737288 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid PMID:14613268|REF_RGD_ID:10450570 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9352 type 2 diabetes mellitus ISO RGD:621237 D RGD:9068941 20200609 RGD mRNA:increased expression:coronary artery (rat) PMID:20559450|REF_RGD_ID:5130987 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9352 type 2 diabetes mellitus ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11882518 11940201 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9970 obesity ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12935365|REF_RGD_ID:1624179 11940215 FAM117B family with sequence similarity 117 member B gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1317004 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11940215 FAM117B family with sequence similarity 117 member B gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1317004 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11940215 FAM117B family with sequence similarity 117 member B gene DOID:14557 primary pulmonary hypertension ISO RGD:1317004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11940215 FAM117B family with sequence similarity 117 member B gene DOID:630 genetic disease ISO RGD:1317004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940215 FAM117B family with sequence similarity 117 member B gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1317004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 11940215 FAM117B family with sequence similarity 117 member B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11940215 FAM117B family with sequence similarity 117 member B gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1317004 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11940233 GJB7 gap junction protein beta 7 gene DOID:630 genetic disease ISO RGD:1346461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940240 RBBP6 RB binding protein 6, ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1323690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940267 NONO non-POU domain containing octamer binding gene DOID:0050700 cardiomyopathy ISO RGD:1343083 D RGD:9068941 20230128 RGD DNA:SNPs:nonsense mutations, splice-site mutation:CDS, intron:c.457C>T, c.550C>T, c.1171+1G>A (human) PMID:31883306|REF_RGD_ID:155882460 11940267 NONO non-POU domain containing octamer binding gene DOID:0050902 medulloblastoma ISO RGD:1343083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:26822237 11940267 NONO non-POU domain containing octamer binding gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:1343083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe combined immunodeficiency PMID:28492532 11940267 NONO non-POU domain containing octamer binding gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11940267 NONO non-POU domain containing octamer binding gene DOID:0060817 syndromic X-linked intellectual disability 34 ISO RGD:1343083 D RGD:7240710 20190315 OMIM 11940267 NONO non-POU domain containing octamer binding gene DOID:0060817 syndromic X-linked intellectual disability 34 ISO RGD:1343083 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 34 PMID:25741868|PMID:26571461|PMID:27329731|PMID:27550220|PMID:28492532|PMID:31883306|PMID:32238909 11940267 NONO non-POU domain containing octamer binding gene DOID:0080685 aortic dissection ISO RGD:1343083 D RGD:9068941 20230128 RGD mRNA, protein:decreased expression:aorta wall (human) PMID:24720418|REF_RGD_ID:155882452 11940267 NONO non-POU domain containing octamer binding gene DOID:1059 intellectual disability ISO RGD:1343083 D RGD:9068941 20230128 RGD DNA:nonsense mutation, silent mutation, frameshift mutation:CDS:p.R365*, p.A377A, p.N466Kfs*13 (human) PMID:26571461|REF_RGD_ID:11058183 11940267 NONO non-POU domain containing octamer binding gene DOID:1059 intellectual disability ISO RGD:1343083 D RGD:9068941 20230216 RGD DNA:missense mutation:CDS:p.P459A (human) PMID:36653413|REF_RGD_ID:155900764 11940267 NONO non-POU domain containing octamer binding gene DOID:10603 glucose intolerance ISO RGD:1343083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29358041 11940267 NONO non-POU domain containing octamer binding gene DOID:12849 autistic disorder ISO RGD:1343083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11940267 NONO non-POU domain containing octamer binding gene DOID:1682 congenital heart disease ISO RGD:1343083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868|PMID:27550220|PMID:31680349 11940267 NONO non-POU domain containing octamer binding gene DOID:1936 atherosclerosis ISO RGD:1343083 D RGD:9068941 20230216 RGD mRNA, protein:increased expression:coronary artery (human) PMID:33626912|REF_RGD_ID:155900763 11940267 NONO non-POU domain containing octamer binding gene DOID:1936 atherosclerosis severity ISO RGD:1557128 D RGD:9068941 20230128 RGD PMID:29673854|REF_RGD_ID:155882449 11940267 NONO non-POU domain containing octamer binding gene DOID:2154 nephroblastoma ISO RGD:1343083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 11940267 NONO non-POU domain containing octamer binding gene DOID:224 transient cerebral ischemia ISO RGD:1557128 D RGD:9068941 20230209 RGD protein:altered localization:cerebral cortex (mouse) PMID:29426953|REF_RGD_ID:155883175 11940267 NONO non-POU domain containing octamer binding gene DOID:2377 multiple sclerosis ISO RGD:1343083 D RGD:9068941 20230218 RGD mRNA:altered expression:peripheral blood mononuclear cell (human) PMID:29100048|REF_RGD_ID:156420155 11940267 NONO non-POU domain containing octamer binding gene DOID:5844 myocardial infarction ameliorates ISO RGD:1557128 D RGD:9068941 20230128 RGD PMID:35247074|REF_RGD_ID:155882458 11940267 NONO non-POU domain containing octamer binding gene DOID:630 genetic disease ISO RGD:1343083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22416126|PMID:25741868|PMID:26571461|PMID:28492532 11940267 NONO non-POU domain containing octamer binding gene DOID:7693 abdominal aortic aneurysm ameliorates ISO RGD:1557128 D RGD:9068941 20230128 RGD PMID:31512366|REF_RGD_ID:155882451 11940267 NONO non-POU domain containing octamer binding gene DOID:9003139 Cardiac Fibrosis ISO RGD:1557128 D RGD:9068941 20230128 RGD PMID:31634484|REF_RGD_ID:155882450 11940267 NONO non-POU domain containing octamer binding gene DOID:9006182 Carotid Artery Injuries ameliorates ISO RGD:1557128 D RGD:9068941 20230216 RGD PMID:33626912|REF_RGD_ID:155900763 11940267 NONO non-POU domain containing octamer binding gene DOID:9006385 Congenital Heart Defects, X-Linked ISO RGD:1343083 D RGD:9068941 20230128 RGD DNA:nonsense mutation, frameshift mutation, deletion:CDS, exons:p.R365*, p.N466Kfs*13, (human) PMID:27550220|REF_RGD_ID:155882461 11940267 NONO non-POU domain containing octamer binding gene DOID:9007898 FG Syndrome 1 ISO RGD:1343083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 11940267 NONO non-POU domain containing octamer binding gene DOID:9008086 Developmental Disabilities ISO RGD:1343083 D RGD:9068941 20230216 RGD DNA:missense mutation:CDS:p.P459A (human) PMID:36653413|REF_RGD_ID:155900764 11940267 NONO non-POU domain containing octamer binding gene DOID:9538 multiple myeloma exacerbates ISO RGD:1343083 D RGD:9068941 20230216 RGD mRNA:increased expression: (human) PMID:32410217|REF_RGD_ID:155900765 11940294 ALDH3B1 aldehyde dehydrogenase 3 family member B1 gene DOID:0060041 autism spectrum disorder ISO RGD:1349903 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11940294 ALDH3B1 aldehyde dehydrogenase 3 family member B1 gene DOID:1059 intellectual disability ISO RGD:1349903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11940294 ALDH3B1 aldehyde dehydrogenase 3 family member B1 gene DOID:630 genetic disease ISO RGD:1349903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940294 ALDH3B1 aldehyde dehydrogenase 3 family member B1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1349903 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11940294 ALDH3B1 aldehyde dehydrogenase 3 family member B1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1349903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11940311 PDE4A phosphodiesterase 4A gene DOID:11077 brucellosis ISO RGD:3279 D RGD:9068941 20200609 RGD mRNA:decreased expression:spleen PMID:17397885|REF_RGD_ID:2302429 11940311 PDE4A phosphodiesterase 4A gene DOID:11832 visual epilepsy ISO RGD:3279 D RGD:9068941 20200609 RGD PMID:16190900|REF_RGD_ID:2302430 11940311 PDE4A phosphodiesterase 4A gene DOID:12849 autistic disorder ISO RGD:737080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18090323 11940311 PDE4A phosphodiesterase 4A gene DOID:630 genetic disease ISO RGD:737080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940328 ANKRD34C ankyrin repeat domain 34C gene DOID:2717 Bloom syndrome ISO RGD:2291762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11940328 ANKRD34C ankyrin repeat domain 34C gene DOID:630 genetic disease ISO RGD:2291762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940328 ANKRD34C ankyrin repeat domain 34C gene DOID:9256 colorectal cancer ISO RGD:2291762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11940339 LOC103785006 pregnancy-specific beta-1-glycoprotein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1345606 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11940339 LOC103785006 pregnancy-specific beta-1-glycoprotein 3 gene DOID:5419 schizophrenia ISO RGD:1345606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11940339 LOC103785006 pregnancy-specific beta-1-glycoprotein 3 gene DOID:630 genetic disease ISO RGD:1345606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:0060041 autism spectrum disorder ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18252227|PMID:20844286 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:0080600 COVID-19 ISO RGD:731730 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:10283 prostate cancer ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:10487 Hirschsprung's disease ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:1059 intellectual disability ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:1227 neutropenia ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12562666 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:12849 autistic disorder ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic disorder of childhood onset PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:14218 dihydropyrimidine dehydrogenase deficiency ISO RGD:731730 D RGD:7240710 20180130 OMIM 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:14218 dihydropyrimidine dehydrogenase deficiency ISO RGD:731730 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: 5-fluorouracil toxicity | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar Annotator: match by term: Hereditary Thymine-Uraciluria | ClinVar Annotator: match by term: Pyrimidinemia familial PMID:10071185|PMID:10657402|PMID:10671643|PMID:10803677|PMID:11156223|PMID:11179210|PMID:11350878|PMID:11555601|PMID:11783493|PMID:11875367|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12164772|PMID:12209976|PMID:12360106|PMID:12562666|PMID:12851836|PMID:12885330|PMID:12912951|PMID:14635116|PMID:15017333|PMID:15102667|PMID:15132136|PMID:15571261|PMID:15591715|PMID:15858133|PMID:15890268|PMID:15899693|PMID:16033824|PMID:16115930|PMID:16151913|PMID:16361556|PMID:1648430|PMID:16719540|PMID:17000684|PMID:17000685|PMID:17046731|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17417073|PMID:17563256|PMID:17700593|PMID:17828463|PMID:17848752|PMID:17876700|PMID:17905396|PMID:18006695|PMID:18299612|PMID:18443386|PMID:18452418|PMID:18600527|PMID:18600544|PMID:18619742|PMID:18937829|PMID:19104657|PMID:19287123|PMID:19288105|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19822137|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20530282|PMID:20647221|PMID:20803296|PMID:20809970|PMID:20819423|PMID:20920994|PMID:20981092|PMID:21077799|PMID:21114665|PMID:21228398|PMID:21410976|PMID:21412232|PMID:21420945|PMID:21498394|PMID:21590448|PMID:21723269|PMID:21833589|PMID:21878539|PMID:21919607|PMID:22339448|PMID:22353294|PMID:22490566|PMID:22992668|PMID:22995991|PMID:23042115|PMID:23139054|PMID:23199091|PMID:23238479|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23517808|PMID:23585145|PMID:23588312|PMID:23596069|PMID:23603345|PMID:23736036|PMID:23781135|PMID:23930673|PMID:23942539|PMID:23960437|PMID:23988873|PMID:24037119|PMID:24107927|PMID:24167597|PMID:24310106|PMID:24326041|PMID:24388031|PMID:24434920|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:24943064|PMID:25087612|PMID:25110414|PMID:25117664|PMID:25381393|PMID:25410891|PMID:25420024|PMID:25565930|PMID:25590979|PMID:25677447|PMID:25741868|PMID:25782327|PMID:25826134|PMID:26099996|PMID:26216193|PMID:26254383|PMID:26265035|PMID:26265346|PMID:26330892|PMID:26467025|PMID:26505400|PMID:26551538|PMID:26603945|PMID:26621101|PMID:26623034|PMID:26651493|PMID:26658227|PMID:26716401|PMID:26792652|PMID:26794347|PMID:26804235|PMID:26804652|PMID:26846104|PMID:26894782|PMID:26967565|PMID:27122156|PMID:27248859|PMID:27281625|PMID:27454530|PMID:27544765|PMID:27701067|PMID:27727460|PMID:27738344|PMID:27752409|PMID:27864592|PMID:27884173|PMID:27995989|PMID:28024938|PMID:28027897|PMID:28112993|PMID:28128059|PMID:28237406|PMID:28262261|PMID:28295243|PMID:28395758|PMID:28427087|PMID:28481884|PMID:28492532|PMID:28572524|PMID:28614820|PMID:28745575|PMID:28929491|PMID:28950804|PMID:29045550|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29236957|PMID:29239269|PMID:29327356|PMID:29769267|PMID:29778030|PMID:29846282|PMID:29889674|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30349988|PMID:30485432|PMID:30510603|PMID:30723313|PMID:30775324|PMID:30858516|PMID:30898145|PMID:30945278|PMID:31382864|PMID:31486738|PMID:31589614|PMID:31745289|PMID:32378051|PMID:32529295|PMID:32595208|PMID:32619063|PMID:32707991|PMID:32899374|PMID:32973300|PMID:33232506|PMID:33410339|PMID:33620159|PMID:33965356|PMID:34055682|PMID:34916829|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9010022|PMID:9254861|PMID:9266349|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374|PMID:9721209|PMID:9865912 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:1793 pancreatic cancer ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17443278|PMID:19020767 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:1793 pancreatic cancer ISO RGD:731730 D RGD:9068941 20200609 RGD PMID:18309485|REF_RGD_ID:2317630 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:1793 pancreatic cancer disease_progression ISO RGD:731730 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:20072795|REF_RGD_ID:2317629 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:1826 epilepsy ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:3121 gallbladder cancer disease_progression ISO RGD:731730 D RGD:9068941 20200609 RGD PMID:16619549|REF_RGD_ID:2317631 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:409 liver disease ISO RGD:621218 D RGD:9068941 20200609 RGD mRNA, Protein:increased expression PMID:10348793|REF_RGD_ID:1599789 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:5419 schizophrenia ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266|PMID:23042115 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:574 peripheral nervous system disease ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:630 genetic disease ISO RGD:731730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11156223|PMID:11988088|PMID:12912951|PMID:14635116|PMID:16033824|PMID:16115930|PMID:17064846|PMID:17121937|PMID:17700593|PMID:17828463|PMID:17876700|PMID:18299612|PMID:19104657|PMID:19287123|PMID:19288105|PMID:19473056|PMID:19795123|PMID:20819423|PMID:21077799|PMID:21410976|PMID:21420945|PMID:21498394|PMID:21833589|PMID:21919607|PMID:22992668|PMID:23588312|PMID:23596069|PMID:23603345|PMID:23736036|PMID:23930673|PMID:23960437|PMID:23988873|PMID:24167597|PMID:24326041|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26254383|PMID:26265035|PMID:26265346|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:27122156|PMID:27454530|PMID:27727460|PMID:27995989|PMID:28295243|PMID:28427087|PMID:28481884|PMID:28492532|PMID:29065426|PMID:29152729|PMID:29327356|PMID:29769267|PMID:29846282|PMID:29889674|PMID:29998006|PMID:30114658|PMID:30485432|PMID:30510603|PMID:30723313|PMID:30858516|PMID:31486738|PMID:31745289|PMID:32529295|PMID:32595208|PMID:32707991|PMID:33232506 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:653 purine-pyrimidine metabolic disorder ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15571261|PMID:3335642 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:684 hepatocellular carcinoma ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18019677 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:863 nervous system disease ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16435204 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:9000217 Stomach Neoplasms ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15837757|PMID:17089033|PMID:18652704 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:9000965 Neoplasm Metastasis ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17611699 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:731730 D RGD:9068941 20200609 RGD associated with Colonic Neoplasms PMID:11383214|REF_RGD_ID:11251755 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:9002704 Leukoencephalopathies ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11148247 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:9002775 Cognitive Dysfunction ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:9002928 Colonic Neoplasms ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18652704 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:9004278 Sarcoma, Yoshida treatment ISO RGD:621218 D RGD:9068941 20200609 RGD PMID:8138551|REF_RGD_ID:11251753 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:9004286 Hirschsprung Disease 1 ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirschsprung disease 1 PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:9004486 Drug-induced Neutropenia no_association ISO RGD:731730 D RGD:9068941 20200609 RGD associated with Neoplasms;DNA:missense mutations: :multiple PMID:19473056|REF_RGD_ID:11098817 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:731730 D RGD:9068941 20200609 RGD DNA:splice-site mutation, missense mutations: :multiple PMID:11156223|REF_RGD_ID:11251738 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:731730 D RGD:9068941 20200609 RGD associated with Colorectal Neoplasms;DNA:SNPs: :rs1801159 (1896T>C), rs17376848 (human) PMID:23942539|REF_RGD_ID:11251737 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:731730 D RGD:9068941 20200609 RGD associated with Neoplasms;DNA:missense mutation: :p.M166V (496A>G) (human) PMID:19473056|REF_RGD_ID:11098817 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:731730 D RGD:9068941 20200609 RGD associated with Neoplasms;DNA:splice-site mutation:intron:IVS14+1G>A (human) PMID:12209976|REF_RGD_ID:11251736 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:9004593 Drug-Induced Immune Thrombocytopenia treatment ISO RGD:731730 D RGD:9068941 20200609 RGD associated with Neoplasms;DNA:SNP:intron:IVS14+1G>A (human) PMID:19473056|REF_RGD_ID:11098817 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:9004593 Drug-Induced Immune Thrombocytopenia treatment ISO RGD:731730 D RGD:9068941 20200609 RGD associated with Stomach Neoplasms PMID:23064955|REF_RGD_ID:11251740 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:9005078 Congenital Macroglossia ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Giant tongue PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:9005172 Lung Neoplasms ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19020767 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:9005466 Language Development Disorders ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21114665 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:9006169 Head and Neck Neoplasms ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19020767 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:731730 D RGD:9068941 20220616 RGD DNA:SNP:cds:rs12119882 (human) PMID:28347776|REF_RGD_ID:152995291 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:9007478 Malocclusion, Angle Class III ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hapsburg jaw PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:9007817 Macroglossia ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macroglossia PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:9008086 Developmental Disabilities ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:9008443 Colorectal Neoplasms ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15222106|PMID:15814641|PMID:17047489|PMID:17611699|PMID:19020767 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:9008589 Hallux Valgus ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hallux valgus PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:9008939 Breast Neoplasms ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19020767 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:9256 colorectal cancer ISO RGD:621218 D RGD:9068941 20200609 RGD protein:increased activity:liver PMID:23197286|REF_RGD_ID:11251746 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:731730 D RGD:9068941 20200609 RGD DNA:SNP: :85T>C (human) PMID:26846104|REF_RGD_ID:11098453 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:731730 D RGD:9068941 20200609 RGD DNA:splice-site mutation:intron:IVS14+1G>A (human) PMID:26846104|REF_RGD_ID:11098453 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:731730 D RGD:9068941 20200609 RGD DNA:SNPs: :2194G>A, 1156G>T (human) PMID:26846104|REF_RGD_ID:11098453 11940354 DPYD dihydropyrimidine dehydrogenase gene DOID:9970 obesity ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 11940388 MMP8 matrix metallopeptidase 8 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1351878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 11940388 MMP8 matrix metallopeptidase 8 gene DOID:0080600 COVID-19 ISO RGD:1351878 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 11940388 MMP8 matrix metallopeptidase 8 gene DOID:0111144 preterm premature rupture of the membranes ISO RGD:1351878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Preterm premature rupture of the membranes PMID:15367487 11940388 MMP8 matrix metallopeptidase 8 gene DOID:1059 intellectual disability ISO RGD:1351878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11940388 MMP8 matrix metallopeptidase 8 gene DOID:12704 ataxia telangiectasia ISO RGD:1351878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11940388 MMP8 matrix metallopeptidase 8 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1351878 D RGD:9068941 20200609 RGD protein:decreased expression:aorta (human) PMID:16820601|REF_RGD_ID:1582351 11940388 MMP8 matrix metallopeptidase 8 gene DOID:1612 breast cancer disease_progression ISO RGD:1351878 D RGD:9068941 20200609 RGD DNA:SNP:promoter:minor (T) allele of rs11225395 associated with reduced lymph node metastasis, reduced relapse and greater disease-free survival (p=0.02) PMID:17974962|REF_RGD_ID:2298553 11940388 MMP8 matrix metallopeptidase 8 gene DOID:1612 breast cancer disease_progression ISO RGD:1351878 D RGD:9068941 20200609 RGD protein:increased expression:plasma:levels higher in patients with moderate lymph node involvement relative to controls and patients with no involvement (p=0.001) PMID:18366705|REF_RGD_ID:2298552 11940388 MMP8 matrix metallopeptidase 8 gene DOID:1909 melanoma ISO RGD:1351878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19330028 11940388 MMP8 matrix metallopeptidase 8 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1351878 D RGD:9068941 20200609 RGD PMID:14602136|REF_RGD_ID:2306084 11940388 MMP8 matrix metallopeptidase 8 gene DOID:2773 contact dermatitis ISO RGD:1351878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11940388 MMP8 matrix metallopeptidase 8 gene DOID:2871 endometrial carcinoma ISO RGD:1351878 D RGD:9068941 20200609 RGD PMID:10502722|REF_RGD_ID:2306086 11940388 MMP8 matrix metallopeptidase 8 gene DOID:2957 pulmonary tuberculosis ISO RGD:1351878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24890593 11940388 MMP8 matrix metallopeptidase 8 gene DOID:3407 carotid artery disease ISO RGD:1351878 D RGD:9068941 20200609 RGD PMID:16339461|REF_RGD_ID:1582626 11940388 MMP8 matrix metallopeptidase 8 gene DOID:6000 congestive heart failure disease_progression ISO RGD:631408 D RGD:9068941 20200609 RGD protein:increased expression:left ventricle (rat) PMID:10773235|REF_RGD_ID:1582587 11940388 MMP8 matrix metallopeptidase 8 gene DOID:630 genetic disease ISO RGD:1351878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940388 MMP8 matrix metallopeptidase 8 gene DOID:7148 rheumatoid arthritis ISO RGD:1351878 D RGD:9068941 20200609 RGD protein:increased expression:synovial fluid, serum (human) PMID:15194590|REF_RGD_ID:7207131 11940388 MMP8 matrix metallopeptidase 8 gene DOID:7693 abdominal aortic aneurysm severity ISO RGD:1351878 D RGD:9068941 20200609 RGD PMID:16432074|REF_RGD_ID:1582641 11940388 MMP8 matrix metallopeptidase 8 gene DOID:8398 osteoarthritis ISO RGD:1351878 D RGD:9068941 20200609 RGD protein:increased expression:synovial fluid, serum (human) PMID:15194590|REF_RGD_ID:7207131 11940388 MMP8 matrix metallopeptidase 8 gene DOID:850 lung disease ISO RGD:1351878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21602193 11940388 MMP8 matrix metallopeptidase 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15057751 11940388 MMP8 matrix metallopeptidase 8 gene DOID:9001600 Wounds and Injuries ISO RGD:1351878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11172683 11940407 TXNDC11 thioredoxin domain containing 11 gene DOID:5419 schizophrenia ISO RGD:1348266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11940407 TXNDC11 thioredoxin domain containing 11 gene DOID:630 genetic disease ISO RGD:1348266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940430 SCRIB scribble planar cell polarity protein gene DOID:0080074 neural tube defect ISO RGD:1321471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:25741868 11940430 SCRIB scribble planar cell polarity protein gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1321471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11940430 SCRIB scribble planar cell polarity protein gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1321471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11940430 SCRIB scribble planar cell polarity protein gene DOID:10907 microcephaly ISO RGD:1321471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11940430 SCRIB scribble planar cell polarity protein gene DOID:4621 holoprosencephaly ISO RGD:1321471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11940430 SCRIB scribble planar cell polarity protein gene DOID:630 genetic disease ISO RGD:1321471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940477 DSPP dentin sialophosphoprotein gene DOID:11476 osteoporosis ISO RGD:2525 D RGD:9068941 20200609 RGD protein:decreased expression:incisor dental pulp (rat) PMID:23974864|REF_RGD_ID:12911019 11940477 DSPP dentin sialophosphoprotein gene DOID:1324 lung cancer ISO RGD:69028 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:26467025 11940477 DSPP dentin sialophosphoprotein gene DOID:1749 squamous cell carcinoma ISO RGD:69028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21103065 11940477 DSPP dentin sialophosphoprotein gene DOID:3388 periodontal disease ISO RGD:10493 D RGD:9068941 20220825 MouseDO 11940477 DSPP dentin sialophosphoprotein gene DOID:4154 dentinogenesis imperfecta ISO RGD:69028 D RGD:7240710 20180130 OMIM 11940477 DSPP dentin sialophosphoprotein gene DOID:4154 dentinogenesis imperfecta ISO RGD:69028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Capdepont teeth | ClinVar Annotator: match by term: Dentinogenesis imperfecta | ClinVar Annotator: match by term: Hereditary Opalescent Dentin | ClinVar Annotator: match by term: Opalescent dentin PMID:11175779|PMID:11175790|PMID:14758537|PMID:15592686|PMID:16199547|PMID:18456718|PMID:19131317|PMID:21736673|PMID:22243242|PMID:22392858|PMID:25741868|PMID:27993330|PMID:28492532 11940477 DSPP dentin sialophosphoprotein gene DOID:5409 lung small cell carcinoma ISO RGD:69028 D RGD:8554872 20230117 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 11940477 DSPP dentin sialophosphoprotein gene DOID:5608 dental pulp calcification ISO RGD:69028 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Denticles | ClinVar Annotator: match by term: Pulpal dysplasia PMID:12354781|PMID:18456718|PMID:25741868|PMID:26788535|PMID:28492532 11940477 DSPP dentin sialophosphoprotein gene DOID:630 genetic disease ISO RGD:69028 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11940477 DSPP dentin sialophosphoprotein gene DOID:684 hepatocellular carcinoma ISO RGD:69028 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 11940477 DSPP dentin sialophosphoprotein gene DOID:701 dentin dysplasia ISO RGD:69028 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANOMALOUS DYSPLASIA OF DENTIN PMID:25741868|PMID:28492532 11940477 DSPP dentin sialophosphoprotein gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:69028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 11940477 DSPP dentin sialophosphoprotein gene DOID:9003089 Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 ISO RGD:69028 D RGD:7240710 20180130 OMIM 11940477 DSPP dentin sialophosphoprotein gene DOID:9003089 Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 ISO RGD:69028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1 PMID:11175790|PMID:15592686|PMID:22392858|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386 11940477 DSPP dentin sialophosphoprotein gene DOID:9004538 Hearing Loss ISO RGD:69028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868 11940477 DSPP dentin sialophosphoprotein gene DOID:9004572 Dentinogenesis Imperfecta, Shields Type 3 ISO RGD:69028 D RGD:7240710 20180130 OMIM 11940477 DSPP dentin sialophosphoprotein gene DOID:9004572 Dentinogenesis Imperfecta, Shields Type 3 ISO RGD:69028 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brandywine type dentinogenesis imperfecta PMID:11175790|PMID:15592686|PMID:22392858|PMID:25741868|PMID:28492532 11940477 DSPP dentin sialophosphoprotein gene DOID:9007364 Mouth Neoplasms ISO RGD:69028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21103065 11940477 DSPP dentin sialophosphoprotein gene DOID:9008389 Dentin Dysplasia, Type 2 ISO RGD:69028 D RGD:7240710 20180130 OMIM 11940477 DSPP dentin sialophosphoprotein gene DOID:9008389 Dentin Dysplasia, Type 2 ISO RGD:69028 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: DENTIN DYSPLASIA, TYPE II PMID:25741868|PMID:28492532 11940484 ZDBF2 zinc finger DBF-type containing 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:1605970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11940484 ZDBF2 zinc finger DBF-type containing 2 gene DOID:3007 breast ductal carcinoma ISO RGD:1605970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 11940484 ZDBF2 zinc finger DBF-type containing 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1605970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 11940484 ZDBF2 zinc finger DBF-type containing 2 gene DOID:630 genetic disease ISO RGD:1605970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11940484 ZDBF2 zinc finger DBF-type containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11940484 ZDBF2 zinc finger DBF-type containing 2 gene DOID:9005806 Nasopalpebral Lipoma Coloboma Syndrome ISO RGD:1605970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome PMID:23636874|PMID:27139419 11940511 MLF2 myeloid leukemia factor 2 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1314832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11940511 MLF2 myeloid leukemia factor 2 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1314832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11940511 MLF2 myeloid leukemia factor 2 gene DOID:0111621 Temtamy syndrome ISO RGD:1314832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11940511 MLF2 myeloid leukemia factor 2 gene DOID:630 genetic disease ISO RGD:1314832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940511 MLF2 myeloid leukemia factor 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1314832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11940533 ZNF592 zinc finger protein 592 gene DOID:0060364 Galloway-Mowat syndrome 1 ISO RGD:1318632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 PMID:12030328|PMID:20531441|PMID:25741868|PMID:26123727 11940533 ZNF592 zinc finger protein 592 gene DOID:0080694 Galloway-Mowat syndrome ISO RGD:1318632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20531441 11940533 ZNF592 zinc finger protein 592 gene DOID:10487 Hirschsprung's disease ISO RGD:1318632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 11940533 ZNF592 zinc finger protein 592 gene DOID:2717 Bloom syndrome ISO RGD:1318632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11940533 ZNF592 zinc finger protein 592 gene DOID:3312 bipolar disorder ISO RGD:1318632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 11940533 ZNF592 zinc finger protein 592 gene DOID:630 genetic disease ISO RGD:1318632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940533 ZNF592 zinc finger protein 592 gene DOID:9256 colorectal cancer ISO RGD:1318632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11940547 LPGAT1 lysophosphatidylglycerol acyltransferase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1353817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11940547 LPGAT1 lysophosphatidylglycerol acyltransferase 1 gene DOID:630 genetic disease ISO RGD:1353817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940547 LPGAT1 lysophosphatidylglycerol acyltransferase 1 gene DOID:9004657 Weight Gain ISO RGD:1353817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11940547 LPGAT1 lysophosphatidylglycerol acyltransferase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11940562 LOC100977365 protein SSX2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1626582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11940562 LOC100977365 protein SSX2 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1626582 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 11940562 LOC100977365 protein SSX2 gene DOID:12849 autistic disorder ISO RGD:1626582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11940571 WDR77 WD repeat domain 77 gene DOID:630 genetic disease ISO RGD:1604293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940571 WDR77 WD repeat domain 77 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1604293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22022581 11940590 PRH2 proline rich protein HaeIII subfamily 2 gene DOID:630 genetic disease ISO RGD:1346350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940596 AFAP1L1 actin filament associated protein 1 like 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606158 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11940596 AFAP1L1 actin filament associated protein 1 like 1 gene DOID:630 genetic disease ISO RGD:1606158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940596 AFAP1L1 actin filament associated protein 1 like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11940596 AFAP1L1 actin filament associated protein 1 like 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606158 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11940619 PGAM2 phosphoglycerate mutase 2 gene DOID:0080108 myoglobinuria ISO RGD:68971 D RGD:9068941 20200609 RGD PMID:8447317|REF_RGD_ID:1599129 11940619 PGAM2 phosphoglycerate mutase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:68971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11940619 PGAM2 phosphoglycerate mutase 2 gene DOID:630 genetic disease ISO RGD:68971 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11940619 PGAM2 phosphoglycerate mutase 2 gene DOID:9000884 Rhabdomyolysis ISO RGD:68971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:28779239 11940619 PGAM2 phosphoglycerate mutase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11940619 PGAM2 phosphoglycerate mutase 2 gene DOID:9005787 Dimauro Disease ISO RGD:68971 D RGD:7240710 20180130 OMIM 11940619 PGAM2 phosphoglycerate mutase 2 gene DOID:9005787 Dimauro Disease ISO RGD:68971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dimauro disease | ClinVar Annotator: match by term: GSD X | ClinVar Annotator: match by term: Myopathy due to phosphoglycerate mutase deficiency PMID:10545043|PMID:16881065|PMID:17576681|PMID:18852891|PMID:19273759|PMID:19322572|PMID:19783439|PMID:21444020|PMID:22995991|PMID:23169535|PMID:23335027|PMID:25741868|PMID:26502762|PMID:27612597|PMID:28492532|PMID:28944235|PMID:2987758|PMID:30310767|PMID:33782433|PMID:6308514|PMID:8447317|PMID:9536098 11940626 C14H14orf119 chromosome 14 C14orf119 homolog gene DOID:0060439 lysinuric protein intolerance ISO RGD:1318193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11940626 C14H14orf119 chromosome 14 C14orf119 homolog gene DOID:0080600 COVID-19 ISO RGD:1318193 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11940626 C14H14orf119 chromosome 14 C14orf119 homolog gene DOID:9000265 Specific Granule Deficiency ISO RGD:1318193 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11940626 C14H14orf119 chromosome 14 C14orf119 homolog gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1318193 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11940633 LOC100984553 cytochrome c oxidase subunit 8C, mitochondrial gene DOID:0080054 achondrogenesis type IA ISO RGD:1344927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11940633 LOC100984553 cytochrome c oxidase subunit 8C, mitochondrial gene DOID:0081063 DICER1 syndrome ISO RGD:1344927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 11940633 LOC100984553 cytochrome c oxidase subunit 8C, mitochondrial gene DOID:630 genetic disease ISO RGD:1344927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940639 LAPTM4A lysosomal protein transmembrane 4 alpha gene DOID:630 genetic disease ISO RGD:1346215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940654 SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:731609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:25741868|PMID:28492532 11940654 SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha gene DOID:0080128 mitochondrial DNA depletion syndrome 9 ISO RGD:731609 D RGD:7240710 20180130 OMIM 11940654 SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha gene DOID:0080128 mitochondrial DNA depletion syndrome 9 ISO RGD:731609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 PMID:16199547|PMID:17287286|PMID:17576681|PMID:17668387|PMID:19526370|PMID:20197121|PMID:20227526|PMID:20453710|PMID:20693550|PMID:21639866|PMID:22980518|PMID:25326635|PMID:25741868|PMID:26475597|PMID:26827111|PMID:27484306|PMID:27896121|PMID:28492532|PMID:29217198|PMID:30470562|PMID:33230783|PMID:34023347|PMID:9536098 11940654 SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha gene DOID:630 genetic disease ISO RGD:731609 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11940654 SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha gene DOID:9000217 Stomach Neoplasms ISO RGD:731609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11940654 SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha gene DOID:9000918 Disease Progression ISO RGD:731609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11940672 SEC14L1 SEC14 like lipid binding 1 gene DOID:630 genetic disease ISO RGD:1320418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940672 SEC14L1 SEC14 like lipid binding 1 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:1320418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 11940705 SYPL1 synaptophysin like 1 gene DOID:1059 intellectual disability ISO RGD:1346991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11940705 SYPL1 synaptophysin like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11940705 SYPL1 synaptophysin like 1 gene DOID:630 genetic disease ISO RGD:1346991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940714 FEM1C fem-1 homolog C gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1319607 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11940714 FEM1C fem-1 homolog C gene DOID:12849 autistic disorder ISO RGD:1319607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11940714 FEM1C fem-1 homolog C gene DOID:630 genetic disease ISO RGD:1319607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940714 FEM1C fem-1 homolog C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11940714 FEM1C fem-1 homolog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 11940714 FEM1C fem-1 homolog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319607 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11940721 YPEL1 yippee like 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1351763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 11940721 YPEL1 yippee like 1 gene DOID:0080600 COVID-19 ISO RGD:1351763 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11940721 YPEL1 yippee like 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1351763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 11940730 CBL Cbl proto-oncogene gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1345184 D RGD:7240710 20190315 OMIM 11940730 CBL Cbl proto-oncogene gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1345184 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:16199547|PMID:17576681|PMID:18698078|PMID:19387008|PMID:19571318|PMID:19620960|PMID:19901108|PMID:20543203|PMID:20619386|PMID:20694012|PMID:20951944|PMID:20955399|PMID:21828135|PMID:21901340|PMID:22733026|PMID:23010802|PMID:23690417|PMID:23696637|PMID:23823657|PMID:24033266|PMID:24451042|PMID:24728327|PMID:24803665|PMID:25224413|PMID:25283271|PMID:25358541|PMID:25741868|PMID:25939664|PMID:25952305|PMID:27069254|PMID:27609087|PMID:28414188|PMID:28492532|PMID:28589114|PMID:29296819|PMID:29696744|PMID:31057598|PMID:32933826|PMID:33337535|PMID:9536098 11940730 CBL Cbl proto-oncogene gene DOID:0060017 CD3epsilon deficiency ISO RGD:1345184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 11940730 CBL Cbl proto-oncogene gene DOID:0060578 Noonan syndrome 1 ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:25741868 11940730 CBL Cbl proto-oncogene gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1345184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11940730 CBL Cbl proto-oncogene gene DOID:0070004 myeloid neoplasm ISO RGD:1345184 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:22315494|REF_RGD_ID:11038804 11940730 CBL Cbl proto-oncogene gene DOID:0070004 myeloid neoplasm disease_progression ISO RGD:1345184 D RGD:9068941 20200609 RGD DNA:mutations:exons: PMID:19387008|REF_RGD_ID:11038808 11940730 CBL Cbl proto-oncogene gene DOID:0070004 myeloid neoplasm disease_progression ISO RGD:1558608 D RGD:9068941 20200609 RGD PMID:20951944|REF_RGD_ID:11038798 11940730 CBL Cbl proto-oncogene gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:22742743|PMID:28492532 11940730 CBL Cbl proto-oncogene gene DOID:0080646 B-lymphoblastic leukemia/lymphoma with hyperdiploidy ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy PMID:24033266|PMID:25741868|PMID:28492532 11940730 CBL Cbl proto-oncogene gene DOID:0080690 RASopathy ISO RGD:1345184 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: RASopathy PMID:17446348|PMID:17576681|PMID:18698078|PMID:19387008|PMID:19571318|PMID:19620960|PMID:19901108|PMID:20543203|PMID:20595524|PMID:20619386|PMID:20694012|PMID:20951944|PMID:20955399|PMID:21828135|PMID:21901340|PMID:22246246|PMID:22733026|PMID:22742743|PMID:22817890|PMID:23010802|PMID:23690417|PMID:23696637|PMID:23823657|PMID:24033266|PMID:24493670|PMID:24728327|PMID:24801577|PMID:24803665|PMID:24896146|PMID:25178484|PMID:25224413|PMID:25283271|PMID:25358541|PMID:25426838|PMID:25731833|PMID:25741868|PMID:25952305|PMID:26580448|PMID:26847329|PMID:27069254|PMID:27784745|PMID:27941868|PMID:28414188|PMID:28492532|PMID:28589114|PMID:29177441|PMID:29296819|PMID:29696744|PMID:31057598|PMID:31101757|PMID:31102422|PMID:31333075|PMID:31568572|PMID:31970404|PMID:32933826|PMID:9536098 11940730 CBL Cbl proto-oncogene gene DOID:0080690 RASopathy ISO RGD:1345184 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: RASopathy PMID:14640702|PMID:15581361|PMID:16199547|PMID:17446348|PMID:17576681|PMID:18698078|PMID:19387008|PMID:19571318|PMID:19620960|PMID:19901108|PMID:20543203|PMID:20595524|PMID:20619386|PMID:20644105|PMID:20694012|PMID:20951944|PMID:20955399|PMID:21828135|PMID:21901340|PMID:22246246|PMID:22266821|PMID:22733026|PMID:22742743|PMID:22817890|PMID:23010802|PMID:23690417|PMID:23696637|PMID:23823657|PMID:24033266|PMID:24451042|PMID:24458550|PMID:24493670|PMID:24728327|PMID:24801577|PMID:24803665|PMID:24896146|PMID:25178484|PMID:25224413|PMID:25283271|PMID:25358541|PMID:25426838|PMID:25731833|PMID:25741868|PMID:25952305|PMID:26580448|PMID:26676746|PMID:26847329|PMID:27069254|PMID:27609087|PMID:27784745|PMID:27854218|PMID:27941868|PMID:28414188|PMID:28492532|PMID:28589114|PMID:28957739|PMID:29177441|PMID:29296819|PMID:29696744|PMID:31057598|PMID:31101757|PMID:31102422|PMID:31333075|PMID:31568572|PMID:31664448|PMID:31970404|PMID:32533790|PMID:32933826|PMID:33318624|PMID:33550024|PMID:33627783|PMID:9536098 11940730 CBL Cbl proto-oncogene gene DOID:0080690 RASopathy ISO RGD:1345184 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:14640702|PMID:15581361|PMID:16199547|PMID:17446348|PMID:17576681|PMID:18698078|PMID:19387008|PMID:19571318|PMID:19620960|PMID:19901108|PMID:20543203|PMID:20595524|PMID:20619386|PMID:20644105|PMID:20694012|PMID:20951944|PMID:20955399|PMID:21828135|PMID:21901340|PMID:22246246|PMID:22266821|PMID:22733026|PMID:22742743|PMID:22817890|PMID:23010802|PMID:23690417|PMID:23696637|PMID:23823657|PMID:24033266|PMID:24451042|PMID:24458550|PMID:24493670|PMID:24728327|PMID:24801577|PMID:24803665|PMID:24896146|PMID:25178484|PMID:25224413|PMID:25283271|PMID:25358541|PMID:25426838|PMID:25731833|PMID:25741868|PMID:25952305|PMID:26580448|PMID:26676746|PMID:26847329|PMID:27069254|PMID:27609087|PMID:27784745|PMID:27941868|PMID:28414188|PMID:28492532|PMID:28589114|PMID:28957739|PMID:29177441|PMID:29296819|PMID:29696744|PMID:31057598|PMID:31101757|PMID:31102422|PMID:31333075|PMID:31568572|PMID:31664448|PMID:31970404|PMID:32533790|PMID:32933826|PMID:33318624|PMID:33550024|PMID:33627783|PMID:9536098 11940730 CBL Cbl proto-oncogene gene DOID:0110651 long QT syndrome 10 ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11940730 CBL Cbl proto-oncogene gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates PMID:22742743|PMID:28492532 11940730 CBL Cbl proto-oncogene gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1345184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 11940730 CBL Cbl proto-oncogene gene DOID:0111971 immunodeficiency 18 ISO RGD:1345184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 11940730 CBL Cbl proto-oncogene gene DOID:0111972 immunodeficiency 19 ISO RGD:1345184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 11940730 CBL Cbl proto-oncogene gene DOID:0111973 immunodeficiency 17 ISO RGD:1345184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 11940730 CBL Cbl proto-oncogene gene DOID:10907 microcephaly ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11940730 CBL Cbl proto-oncogene gene DOID:11383 cryptorchidism ISO RGD:1345184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20694012 11940730 CBL Cbl proto-oncogene gene DOID:12336 male infertility ISO RGD:1345184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16301331 11940730 CBL Cbl proto-oncogene gene DOID:2155 malignant ovarian germ cell neoplasm ISO RGD:1345184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant germ cell tumor of ovary PMID:16199547|PMID:19571318|PMID:20694012|PMID:20955399|PMID:21901340|PMID:24033266|PMID:25741868|PMID:28492532 11940730 CBL Cbl proto-oncogene gene DOID:2156 ovarian germ cell cancer ISO RGD:1345184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ovarian germ cell cancer PMID:16199547|PMID:19571318|PMID:20694012|PMID:20955399|PMID:21901340|PMID:24033266|PMID:25741868|PMID:28492532 11940730 CBL Cbl proto-oncogene gene DOID:224 transient cerebral ischemia treatment ISO RGD:1561386 D RGD:9068941 20200609 RGD PMID:18773943|REF_RGD_ID:4108486 11940730 CBL Cbl proto-oncogene gene DOID:3247 rhabdomyosarcoma ISO RGD:1345184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:17446348|PMID:20619386|PMID:22246246|PMID:25178484|PMID:25741868|PMID:28492532|PMID:33318624|PMID:33627783 11940730 CBL Cbl proto-oncogene gene DOID:3347 osteosarcoma ISO RGD:1345184 D RGD:9068941 20210521 RGD protein:decreased expression:bone PMID:22623369|REF_RGD_ID:126925238 11940730 CBL Cbl proto-oncogene gene DOID:3490 Noonan syndrome ISO RGD:1345184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome PMID:16199547|PMID:18698078|PMID:19571318|PMID:19620960|PMID:20595524|PMID:20619386|PMID:20644105|PMID:20694012|PMID:20955399|PMID:21901340|PMID:23823657|PMID:24033266|PMID:24458550|PMID:25358541|PMID:25741868|PMID:25952305|PMID:28492532|PMID:28589114 11940730 CBL Cbl proto-oncogene gene DOID:3529 central core disease ISO RGD:1345184 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Central core myopathy PMID:19387008|PMID:19620960|PMID:19901108|PMID:20951944|PMID:21828135|PMID:22733026|PMID:23690417|PMID:24033266|PMID:24728327|PMID:25224413|PMID:25741868|PMID:27069254|PMID:27854218|PMID:28492532|PMID:29296819 11940730 CBL Cbl proto-oncogene gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1561386 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium: PMID:23143077|REF_RGD_ID:11038813 11940730 CBL Cbl proto-oncogene gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345184 D RGD:9068941 20200609 RGD DNA:missense mutations, loss of heterozygosity:multiple (human) PMID:20126411|REF_RGD_ID:11576301 11940730 CBL Cbl proto-oncogene gene DOID:4195 hyperglycemia ISO RGD:1561386 D RGD:9068941 20200609 RGD mRNA:increased expression:islet of Langerhans (rat) PMID:16644676|REF_RGD_ID:11576321 11940730 CBL Cbl proto-oncogene gene DOID:5419 schizophrenia ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11940730 CBL Cbl proto-oncogene gene DOID:6000 congestive heart failure ISO RGD:1345184 D RGD:9068941 20200609 RGD protein:increased expression:left ventricle myocardium, muscle cell (human) PMID:24583314|REF_RGD_ID:11251947 11940730 CBL Cbl proto-oncogene gene DOID:6000 congestive heart failure disease_progression ISO RGD:1345184 D RGD:9068941 20221027 RGD DNA:mutations: : PMID:33779075|REF_RGD_ID:155630627 11940730 CBL Cbl proto-oncogene gene DOID:614 lymphopenia onset ISO RGD:1558608 D RGD:9068941 20200609 RGD PMID:20404156|REF_RGD_ID:11038797 11940730 CBL Cbl proto-oncogene gene DOID:630 genetic disease ISO RGD:1345184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18698078|PMID:19387008|PMID:19571318|PMID:19620960|PMID:19901108|PMID:20619386|PMID:20644105|PMID:20694012|PMID:20951944|PMID:21828135|PMID:22733026|PMID:22817890|PMID:23010802|PMID:23690417|PMID:23823657|PMID:24033266|PMID:24458550|PMID:24728327|PMID:24801577|PMID:25224413|PMID:25358541|PMID:25426838|PMID:25741868|PMID:25952305|PMID:26847329|PMID:27069254|PMID:27941868|PMID:28492532|PMID:28589114|PMID:29296819|PMID:31664448|PMID:33550024 11940730 CBL Cbl proto-oncogene gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1345184 D RGD:9068941 20210521 RGD PMID:26474280|REF_RGD_ID:11536137 11940730 CBL Cbl proto-oncogene gene DOID:865 vasculitis ISO RGD:1345184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20694012 11940730 CBL Cbl proto-oncogene gene DOID:9000081 Lymphatic Metastasis ISO RGD:1345184 D RGD:9068941 20210521 RGD associated with stomach carcinoma;protein:increased expression:stomach PMID:31611438|REF_RGD_ID:126925223 11940730 CBL Cbl proto-oncogene gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 11940730 CBL Cbl proto-oncogene gene DOID:9000941 Elliptocytosis 2 ISO RGD:1345184 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE PMID:17446348|PMID:20619386|PMID:22246246|PMID:25178484|PMID:25741868|PMID:28492532|PMID:33318624|PMID:33627783 11940730 CBL Cbl proto-oncogene gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:1561386 D RGD:9068941 20210521 RGD mRNA:increased expression:spinal cord PMID:30021515|REF_RGD_ID:126925240 11940730 CBL Cbl proto-oncogene gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1345184 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:CD5+ B cell: PMID:17804547|REF_RGD_ID:11038803 11940730 CBL Cbl proto-oncogene gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:1345184 D RGD:9068941 20200609 RGD DNA:hypophosphorylation:CD5+ B cell: PMID:17804547|REF_RGD_ID:11038803 11940730 CBL Cbl proto-oncogene gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1561386 D RGD:9068941 20200609 RGD PMID:16984225|REF_RGD_ID:2306289 11940730 CBL Cbl proto-oncogene gene DOID:9002854 Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia ISO RGD:1345184 D RGD:7240710 20180130 OMIM 11940730 CBL Cbl proto-oncogene gene DOID:9002854 Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia ISO RGD:1345184 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CBL SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia PMID:16199547|PMID:17446348|PMID:17576681|PMID:18698078|PMID:19387008|PMID:19571318|PMID:19620960|PMID:19901108|PMID:20543203|PMID:20595524|PMID:20619386|PMID:20694012|PMID:20951944|PMID:20955399|PMID:21828135|PMID:21901340|PMID:22246246|PMID:22733026|PMID:23690417|PMID:23696637|PMID:23823657|PMID:24033266|PMID:24458550|PMID:24493670|PMID:24728327|PMID:24803665|PMID:24896146|PMID:25178484|PMID:25224413|PMID:25283271|PMID:25358541|PMID:25731833|PMID:25741868|PMID:25939664|PMID:25952305|PMID:26580448|PMID:27069254|PMID:27784745|PMID:28414188|PMID:28492532|PMID:28589114|PMID:28957739|PMID:29296819|PMID:31101757|PMID:31333075|PMID:31568572|PMID:31664448|PMID:31970404|PMID:32533790|PMID:32933826|PMID:33318624|PMID:33337535|PMID:33550024|PMID:33627783|PMID:9536098 11940730 CBL Cbl proto-oncogene gene DOID:9003091 Noonan Like Syndrome ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan-like syndrome PMID:19620960|PMID:20951944|PMID:24033266|PMID:25741868|PMID:27069254|PMID:28492532|PMID:29296819 11940730 CBL Cbl proto-oncogene gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11940730 CBL Cbl proto-oncogene gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345184 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11940730 CBL Cbl proto-oncogene gene DOID:9004441 Experimental Leukemia treatment ISO RGD:1558608 D RGD:9068941 20200609 RGD PMID:20890046|REF_RGD_ID:11038805 11940730 CBL Cbl proto-oncogene gene DOID:9006182 Carotid Artery Injuries ISO RGD:1561386 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:tyrosine: PMID:18663086|REF_RGD_ID:11038825 11940730 CBL Cbl proto-oncogene gene DOID:9006257 Growth Disorders ISO RGD:1345184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20694012 11940730 CBL Cbl proto-oncogene gene DOID:9006532 Hematologic Neoplasms ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hematologic neoplasm PMID:19571318|PMID:20543203|PMID:20694012|PMID:23696637|PMID:24803665|PMID:25283271|PMID:25741868|PMID:25952305|PMID:28414188|PMID:28492532|PMID:32933826 11940730 CBL Cbl proto-oncogene gene DOID:9007096 Stroke ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868 11940730 CBL Cbl proto-oncogene gene DOID:9007661 Dwarfism ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11940730 CBL Cbl proto-oncogene gene DOID:9007838 Myocardial Reperfusion Injury severity ISO RGD:1558608 D RGD:9068941 20200609 RGD PMID:24583314|REF_RGD_ID:11251947 11940730 CBL Cbl proto-oncogene gene DOID:9008086 Developmental Disabilities ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11940730 CBL Cbl proto-oncogene gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1345184 D RGD:9068941 20200609 RGD associated with Myelodysplastic Syndromes;DNA:mutations:exons: PMID:22131879|REF_RGD_ID:11038796 11940730 CBL Cbl proto-oncogene gene DOID:9256 colorectal cancer disease_progression ISO RGD:1345184 D RGD:9068941 20210521 RGD PMID:30029779|REF_RGD_ID:126925222 11940730 CBL Cbl proto-oncogene gene DOID:9538 multiple myeloma ISO RGD:1345184 D RGD:9068941 20200609 RGD mRNA:decreased expression:mononuclear cell: PMID:23948411|REF_RGD_ID:11038794 11940730 CBL Cbl proto-oncogene gene DOID:9744 type 1 diabetes mellitus ISO RGD:1561386 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic lymph node, mast cell (rat) PMID:17082646|REF_RGD_ID:1598972 11940756 ARRB2 arrestin beta 2 gene DOID:0050855 renal fibrosis ISO RGD:10192 D RGD:9068941 20200609 RGD associated with ureteral obstruction;mRNA, protein:increased expression:kidney PMID:28274926|REF_RGD_ID:13506828 11940756 ARRB2 arrestin beta 2 gene DOID:10762 portal hypertension ISO RGD:731570 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis;protein:increased expression:mesenteric artery PMID:24337852|REF_RGD_ID:13506901 11940756 ARRB2 arrestin beta 2 gene DOID:10762 portal hypertension treatment ISO RGD:2157 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis, Experimental PMID:24719556|REF_RGD_ID:13506899 11940756 ARRB2 arrestin beta 2 gene DOID:10763 hypertension ISO RGD:2157 D RGD:9068941 20200609 RGD protein:decreased expression:rostral ventrolateral medulla PMID:27861247|REF_RGD_ID:13506896 11940756 ARRB2 arrestin beta 2 gene DOID:630 genetic disease ISO RGD:731570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940756 ARRB2 arrestin beta 2 gene DOID:670 amphetamine abuse ISO RGD:731570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17233643 11940756 ARRB2 arrestin beta 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2157 D RGD:9068941 20220714 RGD PMID:33841550|REF_RGD_ID:152998960 11940756 ARRB2 arrestin beta 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11940756 ARRB2 arrestin beta 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2157 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (rat) PMID:21167192|REF_RGD_ID:5509890 11940756 ARRB2 arrestin beta 2 gene DOID:9002457 Experimental Arthritis ISO RGD:2157 D RGD:9068941 20200609 RGD protein:increased expression:knee, synoviocyte (rat) PMID:20965243|REF_RGD_ID:5509895 11940756 ARRB2 arrestin beta 2 gene DOID:9004283 Transplant Rejection ISO RGD:2157 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:blood, leukocyte, monocyte PMID:21193245|REF_RGD_ID:13506894 11940756 ARRB2 arrestin beta 2 gene DOID:9005605 Arteriovenous Fistula ISO RGD:2157 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:left ventricle (rat) PMID:22015551|REF_RGD_ID:5509867 11940756 ARRB2 arrestin beta 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2157 D RGD:9068941 20200609 RGD PMID:29016703|REF_RGD_ID:13506827 11940756 ARRB2 arrestin beta 2 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:2157 D RGD:9068941 20200609 RGD PMID:24337852|REF_RGD_ID:13506901 11940788 MRM1 mitochondrial rRNA methyltransferase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1605341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 11940788 MRM1 mitochondrial rRNA methyltransferase 1 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1605341 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 11940788 MRM1 mitochondrial rRNA methyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:1605341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11940788 MRM1 mitochondrial rRNA methyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:1605341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11940788 MRM1 mitochondrial rRNA methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1605341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940788 MRM1 mitochondrial rRNA methyltransferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11940788 MRM1 mitochondrial rRNA methyltransferase 1 gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:1605341 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 11940797 PDE1C phosphodiesterase 1C gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:68463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA PMID:29860631 11940797 PDE1C phosphodiesterase 1C gene DOID:0112165 autosomal dominant nonsyndromic deafness 74 ISO RGD:68463 D RGD:7240710 20190315 OMIM 11940797 PDE1C phosphodiesterase 1C gene DOID:0112165 autosomal dominant nonsyndromic deafness 74 ISO RGD:68463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 74 PMID:25741868|PMID:28492532|PMID:29860631 11940797 PDE1C phosphodiesterase 1C gene DOID:10283 prostate cancer ISO RGD:68463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11940797 PDE1C phosphodiesterase 1C gene DOID:303 substance-related disorder ISO RGD:68463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11940797 PDE1C phosphodiesterase 1C gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:68463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11940797 PDE1C phosphodiesterase 1C gene DOID:630 genetic disease ISO RGD:68463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940838 ST7 suppression of tumorigenicity 7 gene DOID:4450 renal cell carcinoma ISO RGD:1343912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:28492532 11940838 ST7 suppression of tumorigenicity 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11940838 ST7 suppression of tumorigenicity 7 gene DOID:630 genetic disease ISO RGD:1343912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940838 ST7 suppression of tumorigenicity 7 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1343912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:28492532 11940838 ST7 suppression of tumorigenicity 7 gene DOID:9008086 Developmental Disabilities ISO RGD:1343912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:0050827 rheumatic heart disease ISO RGD:61817 D RGD:9068941 20230202 RGD mRNA, protein:increases expression:mitral valve, heart (rat) PMID:33179113|REF_RGD_ID:155882558 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:0070303 multiple epiphyseal dysplasia 1 ISO RGD:734049 D RGD:8554872 20220705 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1 PMID:25741868 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:0080006 bone development disease ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868|PMID:8364588 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:0080010 bone structure disease ISO RGD:734049 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormal bone structure | ClinVar Annotator: match by term: Abnormality of bone mineral density PMID:25741868 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:0080162 lupus nephritis ISO RGD:62109 D RGD:9068941 20200609 RGD associated with Graft vs Host Disease PMID:7700025|REF_RGD_ID:5688333 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:0080162 lupus nephritis ISO RGD:62109 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney cortex PMID:7723234|REF_RGD_ID:5688332 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:0080162 lupus nephritis ISO RGD:734049 D RGD:9068941 20200609 RGD PMID:21354048|REF_RGD_ID:5688301 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:17241878|REF_RGD_ID:2308807 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:62109 D RGD:9068941 20200609 RGD PMID:23703580|REF_RGD_ID:8552713 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:0080547 non-alcoholic steatohepatitis ameliorates ISO RGD:62109 D RGD:9068941 20210702 RGD PMID:28100771|REF_RGD_ID:127285675 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:734049 D RGD:7240710 20180130 OMIM 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrochalasis multiplex congenita | ClinVar Annotator: match by term: EDS VII, MUTANT PROCOLLAGEN TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16474405|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:17211858|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18412368|PMID:18553566|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23587214|PMID:23692737|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:27011056|PMID:27044453|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:28102596|PMID:28378289|PMID:28492532|PMID:28725987|PMID:28810924|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29695797|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:31304589|PMID:31447884|PMID:31584903|PMID:32166892|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:7691343|PMID:7695699|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882|PMID:9536098 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:0080728 Ehlers-Danlos syndrome arthrochalasia type 2 ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2 PMID:18311573|PMID:21667357|PMID:22206639|PMID:25741868|PMID:25944380|PMID:26627451|PMID:28492532|PMID:32581362|PMID:7942841|PMID:9295084|PMID:9443882 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type ISO RGD:734049 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16786509|PMID:16879195|PMID:17078022|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18409203|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19550437|PMID:2037280|PMID:20696291|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22589248|PMID:24147872|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26633542|PMID:27044453|PMID:27060301|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27549894|PMID:2767050|PMID:27748872|PMID:28378289|PMID:28492532|PMID:28810924|PMID:29499418|PMID:29543232|PMID:29946973|PMID:30692697|PMID:30715774|PMID:3082886|PMID:31304589|PMID:32166892|PMID:32235935|PMID:33228694|PMID:33928192|PMID:33939306|PMID:6462220|PMID:7691343|PMID:7695699|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882|PMID:9536098 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type ISO RGD:734049 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, cardiac valvular type PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16474405|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18409203|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19550437|PMID:2037280|PMID:20696291|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22589248|PMID:22855962|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26633542|PMID:27011056|PMID:27044453|PMID:27060301|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27519266|PMID:27549894|PMID:2767050|PMID:27748872|PMID:28378289|PMID:28492532|PMID:28810924|PMID:29499418|PMID:29543232|PMID:29695797|PMID:29946973|PMID:30692697|PMID:30715774|PMID:3082886|PMID:31304589|PMID:31584903|PMID:32166892|PMID:32235935|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:6462220|PMID:7691343|PMID:7695699|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882|PMID:9536098 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type ISO RGD:734049 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16474405|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18409203|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23587214|PMID:23692737|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:27011056|PMID:27044453|PMID:27060301|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27519266|PMID:27549894|PMID:2767050|PMID:27748872|PMID:28378289|PMID:28492532|PMID:28725987|PMID:28810924|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29695797|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:3082886|PMID:31304589|PMID:31447884|PMID:31584903|PMID:32166892|PMID:32235935|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:6462220|PMID:7691343|PMID:7695699|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882|PMID:9536098 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16474405|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:17211858|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18409203|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23587214|PMID:23692737|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:27011056|PMID:27044453|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:2767050|PMID:27748872|PMID:28102596|PMID:28378289|PMID:28492532|PMID:28725987|PMID:28810924|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29695797|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:3082886|PMID:31304589|PMID:31447884|PMID:31584903|PMID:32166892|PMID:32235935|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:6462220|PMID:7691343|PMID:7695699|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882|PMID:9536098 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:0081333 Wiedemann-Rautenstrauch syndrome ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome PMID:16786509|PMID:28492532|PMID:29101475|PMID:30450527 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D PMID:25106685|PMID:28492532 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:734049 D RGD:7240710 20181017 OMIM 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:10408781|PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:11826020|PMID:12590186|PMID:1445258|PMID:15024692|PMID:15024745|PMID:15235039|PMID:15241796|PMID:15728585|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:1634225|PMID:16638323|PMID:16705691|PMID:16786509|PMID:16879195|PMID:17078022|PMID:17206620|PMID:17211858|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:1770532|PMID:17875077|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18798308|PMID:18845533|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19637253|PMID:19751715|PMID:1988452|PMID:2035536|PMID:2037280|PMID:20696291|PMID:21239989|PMID:21249479|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22565191|PMID:22570641|PMID:22589248|PMID:22753364|PMID:2295701|PMID:23054245|PMID:23079818|PMID:23265383|PMID:23529829|PMID:23587214|PMID:23692737|PMID:24088041|PMID:24147872|PMID:24273577|PMID:24390061|PMID:24486247|PMID:24501682|PMID:24668929|PMID:24767406|PMID:24891183|PMID:25086671|PMID:25146735|PMID:25324685|PMID:2542316|PMID:25436829|PMID:25525159|PMID:25597651|PMID:25640679|PMID:25696019|PMID:25741868|PMID:25944380|PMID:25963598|PMID:25983617|PMID:26138843|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26264579|PMID:26467025|PMID:26604951|PMID:26627451|PMID:26633542|PMID:26633545|PMID:26712438|PMID:27011056|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27090748|PMID:27132807|PMID:27146342|PMID:27335225|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:2767050|PMID:27748872|PMID:2794057|PMID:28102596|PMID:28116328|PMID:28166811|PMID:28173822|PMID:28326186|PMID:28378289|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28528406|PMID:28725987|PMID:28748566|PMID:28810924|PMID:29150909|PMID:29432813|PMID:29499418|PMID:29543232|PMID:29669177|PMID:29807018|PMID:29946973|PMID:3016737|PMID:30266093|PMID:30614853|PMID:30675999|PMID:30692697|PMID:30715774|PMID:3082886|PMID:30886339|PMID:31055083|PMID:31236376|PMID:31304589|PMID:31363794|PMID:31414283|PMID:31447884|PMID:31737030|PMID:31994750|PMID:32235935|PMID:32581362|PMID:32595695|PMID:32860008|PMID:33939306|PMID:34008892|PMID:3403550|PMID:34091789|PMID:34249109|PMID:6462220|PMID:7487936|PMID:7691343|PMID:7695699|PMID:7789952|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8094076|PMID:8125479|PMID:8218237|PMID:8349697|PMID:8408653|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8757037|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098|PMID:9600458 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:734049 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1A | ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:10408781|PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:11826020|PMID:12590186|PMID:1445258|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:1634225|PMID:16638323|PMID:16705691|PMID:16786509|PMID:16879195|PMID:17078022|PMID:17206620|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:1770532|PMID:17875077|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18798308|PMID:18845533|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19637253|PMID:19751715|PMID:1988452|PMID:2037280|PMID:20696291|PMID:21239989|PMID:21249479|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22565191|PMID:22570641|PMID:22589248|PMID:22753364|PMID:2295701|PMID:23079818|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23692737|PMID:24088041|PMID:24147872|PMID:24390061|PMID:24486247|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25640679|PMID:25696019|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26264579|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26633545|PMID:26712438|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27090748|PMID:2709835|PMID:27132807|PMID:27146342|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:2767050|PMID:27748872|PMID:2794057|PMID:28116328|PMID:28378289|PMID:28492532|PMID:28498836|PMID:28528406|PMID:28725987|PMID:28748566|PMID:28810924|PMID:29150909|PMID:29432813|PMID:29499418|PMID:29543232|PMID:29807018|PMID:29946973|PMID:30266093|PMID:30614853|PMID:30675999|PMID:30692697|PMID:30715774|PMID:3082886|PMID:30886339|PMID:31055083|PMID:31236376|PMID:31304589|PMID:31363794|PMID:31414283|PMID:31447884|PMID:31994750|PMID:32166892|PMID:32235935|PMID:32581362|PMID:32595695|PMID:32860008|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34008892|PMID:3403550|PMID:34091789|PMID:34249109|PMID:6462220|PMID:7691343|PMID:7695699|PMID:7789952|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8094076|PMID:8125479|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8757037|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:734049 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:10408781|PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:11826020|PMID:12590186|PMID:1445258|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:1634225|PMID:16638323|PMID:16705691|PMID:16786509|PMID:16879195|PMID:17078022|PMID:17206620|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:1770532|PMID:17875077|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18798308|PMID:18845533|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19637253|PMID:19751715|PMID:1988452|PMID:2037280|PMID:20696291|PMID:21239989|PMID:21249479|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22565191|PMID:22570641|PMID:22589248|PMID:22753364|PMID:2295701|PMID:23079818|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23692737|PMID:24088041|PMID:24147872|PMID:24390061|PMID:24486247|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25640679|PMID:25696019|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26264579|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26633545|PMID:26712438|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27090748|PMID:2709835|PMID:27132807|PMID:27146342|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:2767050|PMID:27748872|PMID:2794057|PMID:28116328|PMID:28378289|PMID:28492532|PMID:28498836|PMID:28528406|PMID:28725987|PMID:28748566|PMID:28810924|PMID:29150909|PMID:29432813|PMID:29499418|PMID:29543232|PMID:29807018|PMID:29946973|PMID:30266093|PMID:30614853|PMID:30675999|PMID:30692697|PMID:30715774|PMID:3082886|PMID:30886339|PMID:31055083|PMID:31236376|PMID:31304589|PMID:31363794|PMID:31414283|PMID:31447884|PMID:31994750|PMID:32166892|PMID:32235935|PMID:32581362|PMID:32595695|PMID:32627857|PMID:32860008|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34008892|PMID:3403550|PMID:34091789|PMID:34249109|PMID:6462220|PMID:7691343|PMID:7695699|PMID:7789952|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8094076|PMID:8125479|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8757037|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098|PMID:9600458 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:734049 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:10408781|PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:11826020|PMID:12362985|PMID:12590186|PMID:1445258|PMID:15024692|PMID:15024745|PMID:15106082|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:1634225|PMID:16474405|PMID:16638323|PMID:16705691|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:17206620|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:1770532|PMID:17875077|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18798308|PMID:18845533|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19637253|PMID:19751715|PMID:1988452|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21239989|PMID:21249479|PMID:21344539|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22565191|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:2295701|PMID:23079818|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23587214|PMID:23692737|PMID:23729740|PMID:24088041|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24486247|PMID:24501682|PMID:24668929|PMID:24767406|PMID:24891183|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25640679|PMID:25696019|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26264579|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26633545|PMID:26712438|PMID:27011056|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27090748|PMID:2709835|PMID:27132807|PMID:27146342|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:2767050|PMID:27748872|PMID:2794057|PMID:28116328|PMID:28173822|PMID:28378289|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28528406|PMID:28725987|PMID:28748566|PMID:28810924|PMID:28991257|PMID:29150909|PMID:29432813|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29669177|PMID:29695797|PMID:29807018|PMID:29946973|PMID:30266093|PMID:30614853|PMID:30675999|PMID:30692697|PMID:30715774|PMID:3082886|PMID:30886339|PMID:31055083|PMID:31236376|PMID:31304589|PMID:31363794|PMID:31414283|PMID:31447884|PMID:31584903|PMID:31994750|PMID:32166892|PMID:32235935|PMID:32581362|PMID:32595695|PMID:32627857|PMID:32860008|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34008892|PMID:3403550|PMID:34091789|PMID:34249109|PMID:34422331|PMID:34426522|PMID:35918752|PMID:6462220|PMID:7691343|PMID:7695699|PMID:7789952|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8094076|PMID:8125479|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8757037|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098|PMID:9600458 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:734049 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:10408781|PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:11826020|PMID:12362985|PMID:12590186|PMID:1445258|PMID:15024692|PMID:15024745|PMID:15106082|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:1634225|PMID:16474405|PMID:16638323|PMID:16705691|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:17206620|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:1770532|PMID:17875077|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18798308|PMID:18845533|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19637253|PMID:19751715|PMID:1988452|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21239989|PMID:21249479|PMID:21344539|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22565191|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:2295701|PMID:23079818|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23587214|PMID:23692737|PMID:23729740|PMID:24088041|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24486247|PMID:24501682|PMID:24668929|PMID:24767406|PMID:24891183|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25640679|PMID:25696019|PMID:25741868|PMID:25742658|PMID:25944380|PMID:25963598|PMID:25983617|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26264579|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26633545|PMID:26712438|PMID:27011056|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27090748|PMID:2709835|PMID:27132807|PMID:27146342|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:2767050|PMID:27748872|PMID:2794057|PMID:28116328|PMID:28173822|PMID:28378289|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28528406|PMID:28725987|PMID:28748566|PMID:28810924|PMID:28991257|PMID:29150909|PMID:29432813|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29669177|PMID:29695797|PMID:29807018|PMID:29946973|PMID:30266093|PMID:30614853|PMID:30675999|PMID:30692697|PMID:30715774|PMID:3082886|PMID:30886339|PMID:31055083|PMID:31218168|PMID:31236376|PMID:31304589|PMID:31363794|PMID:31414283|PMID:31429852|PMID:31447884|PMID:31584903|PMID:31680973|PMID:31994750|PMID:32166892|PMID:32235935|PMID:32581362|PMID:32595695|PMID:32627857|PMID:32667677|PMID:32860008|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34008892|PMID:3403550|PMID:34091789|PMID:34249109|PMID:34422331|PMID:34426522|PMID:35918752|PMID:6462220|PMID:7691343|PMID:7695699|PMID:7789952|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8094076|PMID:8125479|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8757037|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098|PMID:9600458 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:10408781|PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:11826020|PMID:12362985|PMID:12590186|PMID:1445258|PMID:1460046|PMID:15024692|PMID:15024745|PMID:15046069|PMID:15106082|PMID:15235039|PMID:15241796|PMID:15502558|PMID:15728585|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:1634225|PMID:16474405|PMID:16638323|PMID:16705691|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:1718984|PMID:17206620|PMID:17211858|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:1770532|PMID:17875077|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18798308|PMID:18845533|PMID:1895312|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19637253|PMID:19751715|PMID:1988452|PMID:2035536|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21239989|PMID:21249479|PMID:21344539|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21834035|PMID:21884818|PMID:22206639|PMID:22565191|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:2295701|PMID:23054245|PMID:23079818|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23587214|PMID:23692737|PMID:23729740|PMID:23929220|PMID:24088041|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24273577|PMID:24311407|PMID:24390061|PMID:24486247|PMID:24501682|PMID:24668929|PMID:24767406|PMID:24891183|PMID:25086671|PMID:25146735|PMID:25324685|PMID:2542316|PMID:25436829|PMID:25525159|PMID:25597651|PMID:25633413|PMID:25640679|PMID:25696019|PMID:25741868|PMID:25742658|PMID:25944380|PMID:25963598|PMID:25983617|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26264579|PMID:26371943|PMID:26402641|PMID:26467025|PMID:26604951|PMID:26627451|PMID:26633542|PMID:26633545|PMID:26712438|PMID:26799614|PMID:27011056|PMID:27044453|PMID:27059743|PMID:27090748|PMID:2709835|PMID:27132807|PMID:27146342|PMID:27335225|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27577215|PMID:2767050|PMID:27748872|PMID:2794057|PMID:28102596|PMID:28116328|PMID:28173822|PMID:28326186|PMID:28378289|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28528406|PMID:28725987|PMID:28748566|PMID:28810924|PMID:28817112|PMID:28991257|PMID:29101475|PMID:29150909|PMID:29432813|PMID:29499418|PMID:29502568|PMID:29543232|PMID:29552444|PMID:29595812|PMID:29669177|PMID:29695797|PMID:29807018|PMID:29946973|PMID:3016737|PMID:30266093|PMID:30450527|PMID:30614853|PMID:30675999|PMID:30684648|PMID:30692697|PMID:30715774|PMID:3082886|PMID:30886339|PMID:31055083|PMID:31218168|PMID:31236376|PMID:31304589|PMID:31363794|PMID:31414283|PMID:31429852|PMID:31447884|PMID:31584903|PMID:31680973|PMID:31737030|PMID:31994750|PMID:32166892|PMID:32235935|PMID:32581362|PMID:32595695|PMID:32627857|PMID:32667677|PMID:32860008|PMID:33070251|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34008892|PMID:3403550|PMID:34091789|PMID:34249109|PMID:34422331|PMID:34426522|PMID:35918752|PMID:6462220|PMID:7487936|PMID:7691343|PMID:7695699|PMID:7789952|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8094076|PMID:8125479|PMID:8218237|PMID:8408653|PMID:8456806|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8757037|PMID:8799376|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9143923|PMID:9295084|PMID:9443882|PMID:9536098|PMID:9600458 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:734049 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:10408781|PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:11826020|PMID:12362985|PMID:12590186|PMID:1445258|PMID:1460046|PMID:15024692|PMID:15024745|PMID:15046069|PMID:15106082|PMID:15235039|PMID:15241796|PMID:15502558|PMID:15728585|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:1634225|PMID:16474405|PMID:16638323|PMID:16705691|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:1718984|PMID:17206620|PMID:17211858|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:1770532|PMID:17875077|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18798308|PMID:18845533|PMID:1895312|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19637253|PMID:19751715|PMID:1988452|PMID:2035536|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21239989|PMID:21249479|PMID:21344539|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21834035|PMID:21884818|PMID:22206639|PMID:2238087|PMID:22565191|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:2295701|PMID:23054245|PMID:23079818|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23587214|PMID:23692737|PMID:23729740|PMID:23929220|PMID:23949819|PMID:24088041|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24273577|PMID:24311407|PMID:24390061|PMID:24486247|PMID:24501682|PMID:24668929|PMID:24767406|PMID:24891183|PMID:25086671|PMID:25146735|PMID:25324685|PMID:2542316|PMID:25436829|PMID:25525159|PMID:25597651|PMID:25633413|PMID:25640679|PMID:25696019|PMID:25741868|PMID:25742658|PMID:25944380|PMID:25963598|PMID:25983617|PMID:26138843|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26264579|PMID:26371943|PMID:26402641|PMID:26467025|PMID:26478226|PMID:26604951|PMID:26627451|PMID:26633542|PMID:26633545|PMID:26712438|PMID:26799614|PMID:27011056|PMID:27044453|PMID:27059743|PMID:27090748|PMID:2709835|PMID:27132807|PMID:27146342|PMID:27335225|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27577215|PMID:2767050|PMID:27748872|PMID:2794057|PMID:28102596|PMID:28116328|PMID:28173822|PMID:28326186|PMID:28378289|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28528406|PMID:28725987|PMID:28748566|PMID:28810924|PMID:28817112|PMID:28991257|PMID:29101475|PMID:29150909|PMID:29432813|PMID:29499418|PMID:29502568|PMID:29543232|PMID:29552444|PMID:29595812|PMID:29669177|PMID:29695797|PMID:29807018|PMID:29946973|PMID:30131598|PMID:3016737|PMID:30266093|PMID:30450527|PMID:30614853|PMID:30675999|PMID:30684648|PMID:30692697|PMID:30715774|PMID:3082886|PMID:30886339|PMID:31055083|PMID:31218168|PMID:31236376|PMID:31299979|PMID:31304589|PMID:31363794|PMID:31414283|PMID:31429852|PMID:31447884|PMID:31584903|PMID:31680973|PMID:31737030|PMID:31994750|PMID:32166892|PMID:32235935|PMID:32581362|PMID:32595695|PMID:32627857|PMID:32667677|PMID:32860008|PMID:32981126|PMID:33070251|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34007986|PMID:34008892|PMID:3403550|PMID:34091789|PMID:34249109|PMID:34422331|PMID:34426522|PMID:35918752|PMID:6462220|PMID:7487936|PMID:7691343|PMID:7695699|PMID:7789952|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8094076|PMID:8125479|PMID:8218237|PMID:8408653|PMID:8456806|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8757037|PMID:8799376|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9143923|PMID:9295084|PMID:9443882|PMID:9536098|PMID:9600458 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:734049 D RGD:7240710 20180130 OMIM 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:734049 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: OI type III | ClinVar Annotator: match by term: Osteogenesis imperfecta type III | ClinVar Annotator: match by term: Osteogenesis imperfecta, type III/IV PMID:10408781|PMID:10739762|PMID:10931857|PMID:11113887|PMID:11286507|PMID:11317364|PMID:12362985|PMID:12590186|PMID:1445258|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16705691|PMID:17078022|PMID:17211858|PMID:17309652|PMID:17392686|PMID:17576681|PMID:1770532|PMID:18272325|PMID:18412368|PMID:18553566|PMID:18670065|PMID:18704262|PMID:18798308|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19637253|PMID:2037280|PMID:20981092|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21834035|PMID:22206639|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23529829|PMID:23587214|PMID:23692737|PMID:23729740|PMID:24390061|PMID:24486247|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25086671|PMID:2511192|PMID:2542316|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26467025|PMID:26627451|PMID:27044453|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:2794057|PMID:28102596|PMID:28378289|PMID:28492532|PMID:28725987|PMID:28810924|PMID:29150909|PMID:29499418|PMID:29595812|PMID:29807018|PMID:30131598|PMID:30614853|PMID:30675999|PMID:30692697|PMID:30715774|PMID:31304589|PMID:31447884|PMID:32166892|PMID:32627857|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34007986|PMID:7691343|PMID:7695699|PMID:7789952|PMID:7942841|PMID:8094076|PMID:8125479|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8723681|PMID:8786074|PMID:8808594|PMID:8910493|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098|PMID:9600458 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:0110340 osteogenesis imperfecta type 4 ISO RGD:734049 D RGD:7240710 20180130 OMIM 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:0110340 osteogenesis imperfecta type 4 ISO RGD:734049 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: OI type IV | ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV | ClinVar Annotator: match by term: Osteogenesis imperfecta type 4 PMID:10417276|PMID:10739762|PMID:10931857|PMID:11113887|PMID:11317364|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15106082|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:17078022|PMID:1718984|PMID:17211858|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18272325|PMID:18412368|PMID:18553566|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:2037280|PMID:20981092|PMID:21249479|PMID:21488280|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23587214|PMID:23692737|PMID:24390061|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26467025|PMID:26627451|PMID:27044453|PMID:27132807|PMID:27146342|PMID:2745420|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:2794057|PMID:28102596|PMID:28378289|PMID:28492532|PMID:28498836|PMID:28725987|PMID:28810924|PMID:29150909|PMID:29499418|PMID:29595812|PMID:30614853|PMID:30692697|PMID:30715774|PMID:30886339|PMID:31304589|PMID:31414283|PMID:31429852|PMID:31447884|PMID:31680973|PMID:31737030|PMID:32166892|PMID:33228694|PMID:33928192|PMID:33939306|PMID:7695699|PMID:7942841|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8786074|PMID:8808594|PMID:9007315|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:0110341 osteogenesis imperfecta type 2 ISO RGD:734049 D RGD:7240710 20180130 OMIM 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:0110341 osteogenesis imperfecta type 2 ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2, thin-bone | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2A | ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta PMID:10739762|PMID:10931857|PMID:11113887|PMID:11317364|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:1511982|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:1613761|PMID:16199547|PMID:17078022|PMID:17211858|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:1864604|PMID:18704262|PMID:1874719|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:20301472|PMID:2035536|PMID:2037280|PMID:20981092|PMID:2121988|PMID:21239989|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21834035|PMID:22206639|PMID:2220807|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:2298750|PMID:2309707|PMID:23265383|PMID:2339700|PMID:23587214|PMID:23692737|PMID:24390061|PMID:24767406|PMID:2500431|PMID:25086671|PMID:2542316|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26264579|PMID:26467025|PMID:26627451|PMID:27044453|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:2794057|PMID:28102596|PMID:28116328|PMID:28378289|PMID:28492532|PMID:28528406|PMID:28725987|PMID:28810924|PMID:2894346|PMID:2913053|PMID:29432813|PMID:29499418|PMID:29595812|PMID:3016737|PMID:30266093|PMID:30311386|PMID:30614853|PMID:30692697|PMID:30715774|PMID:3108247|PMID:31304589|PMID:31349857|PMID:31447884|PMID:3198624|PMID:32166892|PMID:32860008|PMID:33228694|PMID:33928192|PMID:33939306|PMID:3403550|PMID:3667599|PMID:3722184|PMID:6702894|PMID:7695699|PMID:7816518|PMID:7881420|PMID:7942841|PMID:8097422|PMID:8100209|PMID:8100856|PMID:8218237|PMID:8364588|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:8950680|PMID:9016532|PMID:9067755|PMID:9143923|PMID:9295084|PMID:9443882|PMID:9536098 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:10283 prostate cancer ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Prostate cancer PMID:17211858|PMID:23265383|PMID:25741868|PMID:28492532 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:1067 open-angle glaucoma ISO RGD:62109 D RGD:9068941 20200609 RGD PMID:15161848|REF_RGD_ID:8552673 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:10763 hypertension ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11682445 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:11088 asphyxia neonatorum ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asphyxia neonatorum PMID:25741868|PMID:8364588 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:11476 osteoporosis ISO RGD:734049 D RGD:7240710 20180130 OMIM 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:11476 osteoporosis ISO RGD:734049 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 | ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL PMID:10931857|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:17078022|PMID:17309652|PMID:18412368|PMID:18553566|PMID:18704262|PMID:19344236|PMID:2037280|PMID:21249479|PMID:21567126|PMID:21667357|PMID:22589248|PMID:22855962|PMID:24390061|PMID:25086671|PMID:2542316|PMID:25741868|PMID:25944380|PMID:26177859|PMID:26467025|PMID:27132807|PMID:27509835|PMID:27519266|PMID:27748872|PMID:28378289|PMID:28492532|PMID:28810924|PMID:32166892|PMID:33228694|PMID:33928192|PMID:33939306|PMID:7695699|PMID:7942841|PMID:8218237|PMID:8408653|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:11476 osteoporosis ISO RGD:734049 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis PMID:10739762|PMID:10931857|PMID:11113887|PMID:11317364|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:17078022|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18272325|PMID:18412368|PMID:18553566|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:2037280|PMID:20981092|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:22206639|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23587214|PMID:23692737|PMID:24390061|PMID:24767406|PMID:25086671|PMID:2542316|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26467025|PMID:26627451|PMID:27044453|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27519266|PMID:27748872|PMID:28378289|PMID:28492532|PMID:28725987|PMID:28810924|PMID:29499418|PMID:29595812|PMID:30614853|PMID:30692697|PMID:30715774|PMID:31304589|PMID:31447884|PMID:32166892|PMID:33228694|PMID:33928192|PMID:33939306|PMID:7695699|PMID:7942841|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882|PMID:9536098 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:11476 osteoporosis ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis PMID:10739762|PMID:10931857|PMID:11113887|PMID:11317364|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:17078022|PMID:17211858|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18272325|PMID:18412368|PMID:18553566|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:2037280|PMID:20981092|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:22206639|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23587214|PMID:23692737|PMID:24390061|PMID:24767406|PMID:25086671|PMID:2542316|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26467025|PMID:26627451|PMID:27044453|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:28102596|PMID:28378289|PMID:28492532|PMID:28725987|PMID:28810924|PMID:29499418|PMID:29595812|PMID:30614853|PMID:30692697|PMID:30715774|PMID:31304589|PMID:31447884|PMID:32166892|PMID:33228694|PMID:33928192|PMID:33939306|PMID:7695699|PMID:7942841|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882|PMID:9536098 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:11476 osteoporosis susceptibility ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:intron:g.2046G>T (human) PMID:23137636|REF_RGD_ID:10045665 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:11664 nephrosclerosis ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:11830 myopia ISO RGD:62109 D RGD:9068941 20200609 RGD mRNA:decreased expression:sclera (mouse) PMID:22690110|REF_RGD_ID:8552656 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:1184 nephrotic syndrome ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1281619 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:12185 otosclerosis susceptibility ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:snps, haplotypes:multiple (human) PMID:17489845|REF_RGD_ID:8552658 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:12236 primary biliary cholangitis treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:20056896|REF_RGD_ID:8552731 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:12241 beta thalassemia ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:SNP PMID:12803121|REF_RGD_ID:11041179 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:734049 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brittle bone disease | ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:1137656|PMID:11432962|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16705691|PMID:16786509|PMID:16879195|PMID:17078022|PMID:17211858|PMID:17309652|PMID:17392686|PMID:18028452|PMID:18272325|PMID:18412368|PMID:18553566|PMID:18670065|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19550437|PMID:19751715|PMID:2037280|PMID:20696291|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22589248|PMID:22753364|PMID:23443412|PMID:23587214|PMID:24147872|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26712438|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:28102596|PMID:28116328|PMID:28166811|PMID:28378289|PMID:28492532|PMID:28810924|PMID:29150909|PMID:29499418|PMID:29543232|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:31304589|PMID:31319225|PMID:31363794|PMID:31414283|PMID:32166892|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34091789|PMID:34249109|PMID:3722186|PMID:7691343|PMID:7695699|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:734049 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:1137656|PMID:11432962|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16786509|PMID:16879195|PMID:17078022|PMID:17309652|PMID:17392686|PMID:18028452|PMID:18272325|PMID:18412368|PMID:18553566|PMID:18670065|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19550437|PMID:19751715|PMID:2037280|PMID:20696291|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22589248|PMID:22753364|PMID:23443412|PMID:24147872|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26712438|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:28116328|PMID:28378289|PMID:28492532|PMID:28810924|PMID:29150909|PMID:29499418|PMID:29543232|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:31304589|PMID:31319225|PMID:31363794|PMID:32166892|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34091789|PMID:34249109|PMID:3722186|PMID:7691343|PMID:7695699|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:734049 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:1137656|PMID:11432962|PMID:11704682|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15106082|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16705691|PMID:16786509|PMID:16879195|PMID:17078022|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19550437|PMID:19751715|PMID:20301472|PMID:2037280|PMID:20696291|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23443412|PMID:23692737|PMID:24147872|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26712438|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27132807|PMID:27146342|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:28116328|PMID:28378289|PMID:28492532|PMID:28725987|PMID:28810924|PMID:29150909|PMID:29499418|PMID:29543232|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:30886339|PMID:31304589|PMID:31319225|PMID:31363794|PMID:32166892|PMID:32235935|PMID:32581362|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34091789|PMID:34249109|PMID:3722186|PMID:7691343|PMID:7695699|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:734049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:1137656|PMID:11432962|PMID:11704682|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15106082|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16474405|PMID:16705691|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:1718984|PMID:17206620|PMID:17211858|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19751715|PMID:20301472|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21249479|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23587214|PMID:23692737|PMID:23729740|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25742658|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26712438|PMID:27011056|PMID:27044453|PMID:27059743|PMID:27132807|PMID:27146342|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:28102596|PMID:28116328|PMID:28378289|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28725987|PMID:28748566|PMID:28810924|PMID:28817112|PMID:28991257|PMID:29150909|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29695797|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:30886339|PMID:31304589|PMID:31319225|PMID:31363794|PMID:31414283|PMID:31429852|PMID:31447884|PMID:31584903|PMID:31680973|PMID:31737030|PMID:32166892|PMID:32235935|PMID:32581362|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34091789|PMID:34249109|PMID:34422331|PMID:34426522|PMID:35918752|PMID:3722186|PMID:7691343|PMID:7695699|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:734049 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:1137656|PMID:11432962|PMID:11704682|PMID:11826020|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15106082|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16474405|PMID:16705691|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:1718984|PMID:17206620|PMID:17211858|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:18704262|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19751715|PMID:20301472|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21249479|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:2238087|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23587214|PMID:23692737|PMID:23729740|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25742658|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26712438|PMID:27011056|PMID:27044453|PMID:27059743|PMID:27090748|PMID:2709835|PMID:27132807|PMID:27146342|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:28102596|PMID:28116328|PMID:28378289|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28725987|PMID:28748566|PMID:28810924|PMID:28817112|PMID:28991257|PMID:29150909|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29695797|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:30886339|PMID:31299979|PMID:31304589|PMID:31319225|PMID:31363794|PMID:31414283|PMID:31429852|PMID:31447884|PMID:31584903|PMID:31680973|PMID:31737030|PMID:32166892|PMID:32235935|PMID:32581362|PMID:32981126|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34091789|PMID:34249109|PMID:34422331|PMID:34426522|PMID:35918752|PMID:3722186|PMID:7691343|PMID:7695699|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8799376|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta severity ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:mutation:exon:c.3235G>A(p.G1079S)(human) PMID:23079818|REF_RGD_ID:11571620 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:12351 alcoholic hepatitis ISO RGD:734049 D RGD:9068941 20200609 RGD PMID:1670041|REF_RGD_ID:5688335 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:734049 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:10739762|PMID:11090261|PMID:11317364|PMID:11432962|PMID:15741671|PMID:16474405|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:17211858|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18996919|PMID:19344236|PMID:19550437|PMID:19751715|PMID:20696291|PMID:21594610|PMID:21667357|PMID:21884818|PMID:2238087|PMID:22753364|PMID:23265383|PMID:23587214|PMID:24147872|PMID:24668929|PMID:25146735|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26633542|PMID:27011056|PMID:27380894|PMID:27510842|PMID:27519266|PMID:28102596|PMID:28492532|PMID:28748566|PMID:29543232|PMID:29946973|PMID:30715774|PMID:30886339|PMID:31299979|PMID:31584903|PMID:32166892|PMID:32981126|PMID:33939306|PMID:34422331|PMID:34426522|PMID:7691343|PMID:7695699|PMID:8079666|PMID:8218237|PMID:8456808|PMID:8799376|PMID:9016532|PMID:9536098 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:13580 cholestasis ISO RGD:61817 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:22824087|REF_RGD_ID:8552776 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:13580 cholestasis ISO RGD:62109 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (mouse) PMID:22094456|REF_RGD_ID:8552675 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:13580 cholestasis treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:21274875|REF_RGD_ID:8552699 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:13619 extrahepatic cholestasis ISO RGD:734049 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:28789951|PMID:31932644 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:13948 bladder neck obstruction treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:23313213|REF_RGD_ID:7257549 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16786509|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29543232 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:734049 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16786509|PMID:25741868|PMID:28492532|PMID:29543232|PMID:31584903 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:10739762|PMID:17211858|PMID:23587214|PMID:25597651|PMID:25741868|PMID:28102596|PMID:28492532 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:734049 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:10739762|PMID:25741868|PMID:28492532 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:1474 aggressive periodontitis ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:SNP PMID:15081423|REF_RGD_ID:5688299 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:1682 congenital heart disease ISO RGD:734049 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital heart disease PMID:28492532 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:182 calcinosis ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:2213 hemorrhagic disease ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:2377 multiple sclerosis ISO RGD:734049 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:20456365|REF_RGD_ID:5688302 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:734049 D RGD:9068941 20200609 RGD PMID:15469929|REF_RGD_ID:5131854 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:3507 dermatofibrosarcoma protuberans ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:gene fusion:exon PMID:12641779|REF_RGD_ID:2292195 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:3507 dermatofibrosarcoma protuberans ISO RGD:734049 D RGD:9068941 20200609 RGD associated with Severe combined immunodeficiency due to adenosine deaminase deficiency;DNA:gene fusion PMID:22153773|REF_RGD_ID:5688300 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:3770 pulmonary fibrosis ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:7511187|REF_RGD_ID:7257543 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:3770 pulmonary fibrosis ISO RGD:62109 D RGD:9068941 20200619 RGD associated with Middle East respiratory syndrome; PMID:31838832|REF_RGD_ID:30309204 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:3770 pulmonary fibrosis treatment ISO RGD:62109 D RGD:9068941 20200609 RGD PMID:17579094|REF_RGD_ID:11041177 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:4079 heart valve disease ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:4154 dentinogenesis imperfecta ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dentinogenesis imperfecta PMID:17078022|PMID:19344236|PMID:24668929|PMID:25741868|PMID:25944380|PMID:27509835|PMID:28492532|PMID:29807018|PMID:7691343|PMID:7695699|PMID:8218237|PMID:9016532 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:417 autoimmune disease ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:418 systemic scleroderma ISO RGD:734049 D RGD:9068941 20200609 RGD PMID:1697606|REF_RGD_ID:5688336 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:4257 Caffey disease ISO RGD:734049 D RGD:7240710 20180130 OMIM 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:4257 Caffey disease ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Caffey Disease | ClinVar Annotator: match by term: Infantile cortical hyperostosis PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16474405|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:17211858|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18412368|PMID:18553566|PMID:18670065|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23443412|PMID:23587214|PMID:23692737|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26712438|PMID:27011056|PMID:27044453|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:2794057|PMID:28102596|PMID:28116328|PMID:28378289|PMID:28492532|PMID:28725987|PMID:28810924|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29695797|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:31304589|PMID:31447884|PMID:31584903|PMID:32166892|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:7691343|PMID:7695699|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882|PMID:9536098 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:5082 liver cirrhosis ISO RGD:734049 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:21863215|PMID:24239723|PMID:24321339|PMID:26396155|PMID:32659284 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:5199 ureteral obstruction ISO RGD:61817 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:20660018|REF_RGD_ID:5688341 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:57 aortic valve insufficiency ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:5773 oral submucous fibrosis ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:5844 myocardial infarction treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:25636075|REF_RGD_ID:11041598 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:630 genetic disease ISO RGD:734049 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:6432 pulmonary hypertension treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:25867313|REF_RGD_ID:11041577 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:65 connective tissue disease ISO RGD:734049 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:15741671|PMID:16474405|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:18028452|PMID:18272325|PMID:19550437|PMID:20696291|PMID:21594610|PMID:25146735|PMID:25525159|PMID:25741868|PMID:25963598|PMID:26188975|PMID:26235824|PMID:26467025|PMID:27380894|PMID:28492532|PMID:28748566|PMID:29543232|PMID:29946973|PMID:31584903|PMID:8079666|PMID:8456808 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:783 end stage renal disease ISO RGD:734049 D RGD:9068941 20200609 RGD PMID:25782334|REF_RGD_ID:11041185 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:820 myocarditis treatment ISO RGD:62109 D RGD:9068941 20200609 RGD PMID:19246678|REF_RGD_ID:7241803 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:8398 osteoarthritis no_association ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS1 PMID:10743824|REF_RGD_ID:5688331 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:8577 ulcerative colitis ISO RGD:734049 D RGD:9068941 20200609 RGD PMID:17939044|REF_RGD_ID:5688304 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:90 degenerative disc disease ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:SNP: :rs2075555 (human) PMID:19180518|REF_RGD_ID:5688293 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9000058 Keloid ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9000585 Intervertebral Disc Disease ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15994869|REF_RGD_ID:5688297 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9000585 Intervertebral Disc Disease no_association ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:insertion PMID:18694864|REF_RGD_ID:5688295 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9000784 Fibrosis ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20388698 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:20818932|REF_RGD_ID:5688339 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:61817 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (rat) PMID:23958495|REF_RGD_ID:8552710 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:61817 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:16009107|REF_RGD_ID:1601595 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136|PMID:26435214|PMID:26739621 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:61817 D RGD:9068941 20220331 RGD PMID:22706148|PMID:30346985|REF_RGD_ID:151665755|REF_RGD_ID:8552768 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9002130 Bisphosphonate-Associated Osteonecrosis of the Jaw treatment ISO RGD:734049 D RGD:9068941 20200609 RGD associated with Multiple Myeloma PMID:21396799|REF_RGD_ID:11041182 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9002165 Diabetic Nephropathies ISO RGD:61817 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:renal glomerulus (rat) PMID:22903132|REF_RGD_ID:8552684 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9002189 High Myopia no_association ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:snps:5' utr, intron:g.-1482G>C, IVS11+80T>G (rs2269336, rs2075555) (human) PMID:18836165|REF_RGD_ID:8552655 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9002189 High Myopia susceptibility ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:snps:5' utr, intron:g.-2116T>G, g.-1482G>C, IVS11+80T>G (rs1107946, rs2269336, rs2075555) (human) PMID:17557158|REF_RGD_ID:8552654 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9002278 Metabolic Bone Diseases ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteopenia PMID:25741868|PMID:8364588 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9002369 osteogenesis imperfecta type 2C ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IIC PMID:1613761 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9002589 Bone Fractures ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent fractures PMID:25741868 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9003133 Hypertelorism ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868|PMID:8364588 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9003139 Cardiac Fibrosis ISO RGD:61817 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA:increased expression:heart PMID:21769867|REF_RGD_ID:5688337 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9003139 Cardiac Fibrosis ISO RGD:61817 D RGD:9068941 20230225 RGD protein:increased expression:blood serum (rat) PMID:27318893|REF_RGD_ID:156430318 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:19019833|REF_RGD_ID:8552780 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9003234 Hypertensive Nephropathy ISO RGD:61817 D RGD:9068941 20200609 RGD mRNA:increased expression:juxtamedullary cortex (rat) PMID:17977875|REF_RGD_ID:2290351 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9003507 Premature Birth ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature birth PMID:25741868|PMID:8364588 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9003611 Trachomatous Trichiasis ISO RGD:734049 D RGD:9068941 20200609 RGD mRNA:decreased expression:tarsal conjunctiva (human) PMID:20375326|REF_RGD_ID:8552676 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9004332 Osteoarthritis, Experimental treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:25128628|REF_RGD_ID:11041187 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181017 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9004797 Fetal Nutrition Disorders ISO RGD:61817 D RGD:9068941 20230202 RGD associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) PMID:23977013|REF_RGD_ID:155882570 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Postmenopausal osteoporosis PMID:10931857|PMID:12590186|PMID:15024692|PMID:15241796|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16879195|PMID:17078022|PMID:17309652|PMID:18412368|PMID:18553566|PMID:18704262|PMID:19344236|PMID:19358256|PMID:2037280|PMID:21249479|PMID:21567126|PMID:21667357|PMID:22589248|PMID:22753364|PMID:22855962|PMID:24390061|PMID:25086671|PMID:2542316|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26467025|PMID:27509835|PMID:27510842|PMID:27519266|PMID:28378289|PMID:28492532|PMID:28810924|PMID:31447884|PMID:32166892|PMID:33228694|PMID:33928192|PMID:33939306|PMID:7695699|PMID:7942841|PMID:8218237|PMID:8408653|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9005077 Joint Instability ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:10739762|PMID:17211858|PMID:23587214|PMID:25597651|PMID:25741868|PMID:28102596|PMID:28492532 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9005603 Muscle Hypotonia ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:8364588 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9005605 Arteriovenous Fistula ISO RGD:61817 D RGD:9068941 20200609 RGD in Long Evans rats;mRNA:increased expression:aorta PMID:16428894|REF_RGD_ID:8552771 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9005827 Spontaneous Fractures ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pathologic fracture PMID:25741868|PMID:8364588 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9006041 Osteoarthritis, Hip ISO RGD:734049 D RGD:9068941 20200609 RGD PMID:17187661|REF_RGD_ID:5688305 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9006041 Osteoarthritis, Hip no_association ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:SNP:intron:g.2046G>T (human) PMID:9811048|REF_RGD_ID:5688330 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9006041 Osteoarthritis, Hip susceptibility ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:SNP:intron:g.2046G>T (human) PMID:15880349|REF_RGD_ID:5688306 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9006045 Dissecting Aneurysm ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8757037 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9006190 Chronic Pancreatitis treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:21926544|REF_RGD_ID:8552779 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9006325 Ventral Hernia treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:26578432|REF_RGD_ID:11041579 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9006782 Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 ISO RGD:734049 D RGD:7240710 20201223 OMIM 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9006782 Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | ClinVar Annotator: match by term: OIEDS SYNDROME 1 PMID:10739762|PMID:11113887|PMID:11317364|PMID:12362985|PMID:15024745|PMID:15241796|PMID:15728585|PMID:15741671|PMID:16199547|PMID:16407265|PMID:17078022|PMID:17206620|PMID:17211858|PMID:17392686|PMID:17576681|PMID:18272325|PMID:18996919|PMID:19344236|PMID:19491628|PMID:20981092|PMID:21594610|PMID:21667357|PMID:22206639|PMID:23265383|PMID:23587214|PMID:23692737|PMID:24767406|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26467025|PMID:26627451|PMID:26799614|PMID:27044453|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27748872|PMID:28102596|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28725987|PMID:29499418|PMID:29595812|PMID:30614853|PMID:30692697|PMID:30715774|PMID:31304589|PMID:31447884|PMID:7695699|PMID:7942841|PMID:8218237|PMID:8456808|PMID:8613526|PMID:8808594|PMID:9016532|PMID:9295084|PMID:9443882|PMID:9536098 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9006827 Lung Reperfusion Injury ISO RGD:62109 D RGD:9068941 20220915 RGD mRNA:increased expression:lung (mouse) PMID:34238924|REF_RGD_ID:153350155 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9006836 Contracture treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:26097527|REF_RGD_ID:11041578 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9007329 Human Viral Hepatitis ISO RGD:734049 D RGD:9068941 20200609 RGD PMID:1670041|REF_RGD_ID:5688335 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9007889 Nephrogenic Fibrosing Dermopathy ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20570839 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9008331 Tendon Injuries treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:20479531|REF_RGD_ID:8552700 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9008462 Lipodermatosclerosis ISO RGD:734049 D RGD:9068941 20200609 RGD mRNA:increased expression:dermis PMID:15727634|REF_RGD_ID:5688298 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9008763 Femoral Fractures treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:12412812|REF_RGD_ID:8552709 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9111 cutaneous leishmaniasis ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1061237, rs2586488 (human) PMID:25562121|REF_RGD_ID:11041176 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:916 liver benign neoplasm onset ISO RGD:61817 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:21295105|REF_RGD_ID:5130894 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9281 phenylketonuria ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phenylketonuria PMID:25741868 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9282 ocular hypertension ISO RGD:62109 D RGD:9068941 20200609 RGD PMID:19797236|REF_RGD_ID:8552669 11940872 COL1A1 collagen type I alpha 1 chain gene DOID:9446 cholangitis ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 11940927 ERG28 ergosterol biosynthesis 28 homolog gene DOID:1059 intellectual disability ISO RGD:1321865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11940936 BRINP3 BMP/retinoic acid inducible neural specific 3 gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1606655 D RGD:9068941 20200609 RGD mRNA:decreased expression:tongue: PMID:19787213|REF_RGD_ID:14398487 11940936 BRINP3 BMP/retinoic acid inducible neural specific 3 gene DOID:1474 aggressive periodontitis ISO RGD:1606655 D RGD:9068941 20200609 RGD mRNA:increased expression:saliva PMID:20383335|REF_RGD_ID:14398489 11940936 BRINP3 BMP/retinoic acid inducible neural specific 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1606655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11940936 BRINP3 BMP/retinoic acid inducible neural specific 3 gene DOID:3388 periodontal disease ISO RGD:1606655 D RGD:9068941 20200609 RGD mRNA:increased expressin:gingiva PMID:25887438|REF_RGD_ID:14398485 11940936 BRINP3 BMP/retinoic acid inducible neural specific 3 gene DOID:3393 coronary artery disease ISO RGD:1606655 D RGD:9068941 20200609 RGD DNA:SNP: :rs12732361(human), associated with male. PMID:27461004|REF_RGD_ID:14398490 11940936 BRINP3 BMP/retinoic acid inducible neural specific 3 gene DOID:3526 cerebral infarction ISO RGD:1606655 D RGD:9068941 20200609 RGD associated with diabetes mellitus;mRNA:protein:increased expression:blood mononuclear cell: PMID:26717922|REF_RGD_ID:14398486 11940936 BRINP3 BMP/retinoic acid inducible neural specific 3 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1606655 D RGD:9068941 20200609 RGD DNA:SNPs:3' end: PMID:18430236|REF_RGD_ID:14398488 11940936 BRINP3 BMP/retinoic acid inducible neural specific 3 gene DOID:630 genetic disease ISO RGD:1606655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940936 BRINP3 BMP/retinoic acid inducible neural specific 3 gene DOID:8577 ulcerative colitis ISO RGD:1606655 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:intestine PMID:25171508|REF_RGD_ID:14398484 11940936 BRINP3 BMP/retinoic acid inducible neural specific 3 gene DOID:9001004 Chronic Periodontitis susceptibility ISO RGD:1606655 D RGD:9068941 20200609 RGD DNA:SNP: :rs1935881(human) PMID:25887438|REF_RGD_ID:14398485 11940936 BRINP3 BMP/retinoic acid inducible neural specific 3 gene DOID:9003969 Peri-Implantitis susceptibility ISO RGD:1606655 D RGD:9068941 20200609 RGD DNA:SNP: :rs1935881(human) PMID:25887438|REF_RGD_ID:14398485 11940936 BRINP3 BMP/retinoic acid inducible neural specific 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11940962 SEZ6 seizure related 6 homolog gene DOID:630 genetic disease ISO RGD:1320435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11940962 SEZ6 seizure related 6 homolog gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11940962 SEZ6 seizure related 6 homolog gene DOID:9007491 Childhood Schizophrenia ISO RGD:1320435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 11940986 SYT3 synaptotagmin 3 gene DOID:630 genetic disease ISO RGD:736653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941017 NKD2 NKD inhibitor of WNT signaling pathway 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1322930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 11941017 NKD2 NKD inhibitor of WNT signaling pathway 2 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1322930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 11941017 NKD2 NKD inhibitor of WNT signaling pathway 2 gene DOID:630 genetic disease ISO RGD:1322930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941017 NKD2 NKD inhibitor of WNT signaling pathway 2 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1322930 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 11941027 PACS2 phosphofurin acidic cluster sorting protein 2 gene DOID:0080446 developmental and epileptic encephalopathy 66 ISO RGD:1604046 D RGD:7240710 20190315 OMIM 11941027 PACS2 phosphofurin acidic cluster sorting protein 2 gene DOID:0080446 developmental and epileptic encephalopathy 66 ISO RGD:1604046 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 66 PMID:20186691|PMID:23733235|PMID:25034272|PMID:25741868|PMID:26626314|PMID:28135719|PMID:28191890|PMID:28492532|PMID:28628100|PMID:28867141|PMID:29656858|PMID:30290155|PMID:30904718|PMID:31036916|PMID:31231135|PMID:34782754 11941027 PACS2 phosphofurin acidic cluster sorting protein 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1604046 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:20186691|PMID:23733235|PMID:25034272|PMID:25741868|PMID:26626314|PMID:28135719|PMID:28191890|PMID:28492532|PMID:28628100|PMID:28867141|PMID:29656858|PMID:30290155|PMID:30904718|PMID:31036916|PMID:31231135|PMID:34782754 11941027 PACS2 phosphofurin acidic cluster sorting protein 2 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1604046 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11941027 PACS2 phosphofurin acidic cluster sorting protein 2 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1604046 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 11941027 PACS2 phosphofurin acidic cluster sorting protein 2 gene DOID:1059 intellectual disability ISO RGD:1604046 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20186691|PMID:23733235|PMID:25034272|PMID:25741868|PMID:26626314|PMID:28135719|PMID:28191890|PMID:28492532|PMID:28628100|PMID:28867141|PMID:29656858|PMID:30290155|PMID:30904718|PMID:31036916|PMID:31231135|PMID:34782754 11941027 PACS2 phosphofurin acidic cluster sorting protein 2 gene DOID:12849 autistic disorder ISO RGD:1604046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:28492532 11941027 PACS2 phosphofurin acidic cluster sorting protein 2 gene DOID:1826 epilepsy ISO RGD:1604046 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Seizure PMID:20186691|PMID:23733235|PMID:25034272|PMID:25741868|PMID:26626314|PMID:28135719|PMID:28191890|PMID:28492532|PMID:28628100|PMID:28867141|PMID:29656858|PMID:30290155|PMID:30904718|PMID:31036916|PMID:31231135|PMID:34782754 11941027 PACS2 phosphofurin acidic cluster sorting protein 2 gene DOID:630 genetic disease ISO RGD:1604046 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:20186691|PMID:23733235|PMID:25034272|PMID:25741868|PMID:26626314|PMID:28135719|PMID:28191890|PMID:28492532|PMID:28628100|PMID:28867141|PMID:29656858|PMID:30290155|PMID:30904718|PMID:31036916|PMID:31231135|PMID:34782754 11941069 SH2B1 SH2B adaptor protein 1 gene DOID:0050692 Brody myopathy ISO RGD:1603671 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brody myopathy PMID:17882224|PMID:24707176|PMID:28492532 11941069 SH2B1 SH2B adaptor protein 1 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1603671 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 11941069 SH2B1 SH2B adaptor protein 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 11941069 SH2B1 SH2B adaptor protein 1 gene DOID:5419 schizophrenia ISO RGD:1603671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11941069 SH2B1 SH2B adaptor protein 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1603671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11941069 SH2B1 SH2B adaptor protein 1 gene DOID:630 genetic disease ISO RGD:1603671 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11941069 SH2B1 SH2B adaptor protein 1 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1603671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 11941069 SH2B1 SH2B adaptor protein 1 gene DOID:9970 obesity ISO RGD:1603671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19079261 11941107 PHTF2 putative homeodomain transcription factor 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11941107 PHTF2 putative homeodomain transcription factor 2 gene DOID:630 genetic disease ISO RGD:1321591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941107 PHTF2 putative homeodomain transcription factor 2 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1321591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 11941129 TAS2R4 taste 2 receptor member 4 gene DOID:0080690 RASopathy ISO RGD:1342891 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 11941129 TAS2R4 taste 2 receptor member 4 gene DOID:630 genetic disease ISO RGD:1342891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941129 TAS2R4 taste 2 receptor member 4 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1342891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 11941162 FGF4 fibroblast growth factor 4 gene DOID:1059 intellectual disability ISO RGD:1343486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11941162 FGF4 fibroblast growth factor 4 gene DOID:630 genetic disease ISO RGD:1343486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941162 FGF4 fibroblast growth factor 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1343486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25822088 11941162 FGF4 fibroblast growth factor 4 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1343486 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11941162 FGF4 fibroblast growth factor 4 gene DOID:9004883 Pilonidal Sinus ISO RGD:12382382 D RGD:9068941 20220922 OMIA Dermoid sinus PMID:10713979|PMID:11002937|PMID:1481220|PMID:15736812|PMID:16573760|PMID:17422670|PMID:17906623|PMID:17906626|PMID:18704695|PMID:24593884|PMID:256350|PMID:26401330|PMID:2642687|PMID:33025601|PMID:35067986|PMID:35150843|PMID:4919487|PMID:5951011|PMID:7603060 11941162 FGF4 fibroblast growth factor 4 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1343486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11941162 FGF4 fibroblast growth factor 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1343486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21936542 11941171 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:620300 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 11941171 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:0080208 non-alcoholic fatty liver disease disease_progression ISO RGD:620300 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:23117815|REF_RGD_ID:15045604 11941171 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:0090019 sitosterolemia ISO RGD:732770 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Sitosterolemia PMID:11099417|PMID:11264985|PMID:11452359|PMID:11893785|PMID:12124998|PMID:15054092|PMID:15375183|PMID:15996216|PMID:16029460|PMID:16199547|PMID:17632509|PMID:20854103|PMID:21039838|PMID:21274884|PMID:22898925|PMID:23241408|PMID:23685560|PMID:24033266|PMID:24657386|PMID:25073796|PMID:25741868|PMID:28492532|PMID:28521186|PMID:28739549|PMID:29590070|PMID:30545335|PMID:32041611|PMID:32088153|PMID:32166861|PMID:33228147|PMID:33269076|PMID:34650182|PMID:3706300|PMID:4360855|PMID:6110091 11941171 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:1168 familial hyperlipidemia susceptibility ISO RGD:732770 D RGD:9068941 20200609 RGD sitosterolemia;DNA:missense mutation, nonsense mutation: :p.G574A, 1083G>A PMID:12671028|REF_RGD_ID:1601097 11941171 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:13580 cholestasis ISO RGD:620300 D RGD:9068941 20200609 RGD PMID:16764892|REF_RGD_ID:1598662 11941171 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:1588 thrombocytopenia ISO RGD:732770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532|PMID:31064749 11941171 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:2213 hemorrhagic disease ISO RGD:732770 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532 11941171 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:732770 D RGD:9068941 20200609 RGD PMID:11099417|REF_RGD_ID:1300331 11941171 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:3393 coronary artery disease ISO RGD:732770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11099417 11941171 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:3883 Lynch syndrome ISO RGD:732770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11941171 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:589 congenital hemolytic anemia ISO RGD:732770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868 11941171 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:630 genetic disease ISO RGD:732770 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11941171 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:9000528 Coronary Disease ISO RGD:732770 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset coronary artery disease 11941171 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:9000808 Hypercholesterolemia ISO RGD:732770 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M429V PMID:15816807|REF_RGD_ID:1601094 11941171 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11941171 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:9001723 Sitosterolemia 2 ISO RGD:732770 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sitosterolemia 2 PMID:11893785|PMID:17632509|PMID:21039838|PMID:21274884|PMID:22898925|PMID:25741868|PMID:28492532 11941171 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:9002547 Sitosterolemia 1 ISO RGD:732770 D RGD:7240710 20191127 OMIM 11941171 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:9002547 Sitosterolemia 1 ISO RGD:732770 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Sitosterolemia 1 PMID:11099417|PMID:11264985|PMID:11452359|PMID:11893785|PMID:12124998|PMID:15054092|PMID:15375183|PMID:15816807|PMID:15996216|PMID:16029460|PMID:16199547|PMID:17576681|PMID:17632509|PMID:20854103|PMID:21039838|PMID:21274884|PMID:22898925|PMID:22981120|PMID:23241408|PMID:23685560|PMID:24166850|PMID:24497850|PMID:24657386|PMID:25073796|PMID:25110228|PMID:25741868|PMID:28492532|PMID:28521186|PMID:28739549|PMID:29169939|PMID:29590070|PMID:29886606|PMID:30007774|PMID:30241732|PMID:30333156|PMID:30545335|PMID:30968598|PMID:31064749|PMID:31327807|PMID:32041611|PMID:32088153|PMID:32166861|PMID:33228147|PMID:33269076|PMID:34650182|PMID:35549507|PMID:3706300|PMID:4360855|PMID:6110091|PMID:9536098 11941171 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:9005000 Gallbladder Disease 4 ISO RGD:732770 D RGD:7240710 20180509 OMIM 11941171 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:9005000 Gallbladder Disease 4 ISO RGD:732770 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gallbladder disease 4 PMID:11099417|PMID:11452359|PMID:11893785|PMID:12124998|PMID:15054092|PMID:15375183|PMID:16029460|PMID:17632509|PMID:20854103|PMID:21039838|PMID:21274884|PMID:22898925|PMID:23685560|PMID:24497850|PMID:24657386|PMID:25741868|PMID:28492532|PMID:28521186|PMID:29590070|PMID:30241732|PMID:32041611|PMID:32088153|PMID:33228147|PMID:33269076|PMID:34650182|PMID:4360855 11941171 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620300 D RGD:9068941 20200609 RGD PMID:14618236|REF_RGD_ID:1558629 11941171 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:9006113 Gallstones ISO RGD:732770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17632509 11941171 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:9970 obesity ISO RGD:732770 D RGD:9068941 20200609 RGD PMID:15331430|REF_RGD_ID:1601095 11941181 POU5F1B POU class 5 homeobox 1B gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1346950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11941181 POU5F1B POU class 5 homeobox 1B gene DOID:630 genetic disease ISO RGD:1346950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941189 TRIB1 tribbles pseudokinase 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1354037 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 11941189 TRIB1 tribbles pseudokinase 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1354037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11941189 TRIB1 tribbles pseudokinase 1 gene DOID:3393 coronary artery disease ISO RGD:1354037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097064 11941189 TRIB1 tribbles pseudokinase 1 gene DOID:630 genetic disease ISO RGD:1354037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941196 FSIP2 fibrous sheath interacting protein 2 gene DOID:0111911 spermatogenic failure 34 ISO RGD:1602400 D RGD:7240710 20190315 OMIM 11941196 FSIP2 fibrous sheath interacting protein 2 gene DOID:0111911 spermatogenic failure 34 ISO RGD:1602400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 34 PMID:25741868|PMID:30137358 11941196 FSIP2 fibrous sheath interacting protein 2 gene DOID:2843 long QT syndrome ISO RGD:1602400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11941196 FSIP2 fibrous sheath interacting protein 2 gene DOID:630 genetic disease ISO RGD:1602400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941196 FSIP2 fibrous sheath interacting protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11941223 KIF6 kinesin family member 6 gene DOID:0080685 aortic dissection ISO RGD:1346574 D RGD:9068941 20230401 RGD DNA:SNP: :p.W719R (rs20455) (human) PMID:28097184|REF_RGD_ID:243048448 11941223 KIF6 kinesin family member 6 gene DOID:10763 hypertension susceptibility ISO RGD:1346574 D RGD:9068941 20230401 RGD DNA:SNP, haplotype: :rs20455 (p.W719R), rs6930913 (human) PMID:34961832|REF_RGD_ID:243048456 11941223 KIF6 kinesin family member 6 gene DOID:1287 cardiovascular system disease no_association ISO RGD:1346574 D RGD:9068941 20230401 RGD associated with type 2 diabetes mellitus;DNA:SNP: :p.W719R (rs20455) (human) PMID:21871624|REF_RGD_ID:243048453 11941223 KIF6 kinesin family member 6 gene DOID:3393 coronary artery disease ISO RGD:1346574 D RGD:9068941 20230401 RGD DNA:SNP: :rs20455 (human) PMID:18222354|REF_RGD_ID:243048446 11941223 KIF6 kinesin family member 6 gene DOID:3393 coronary artery disease no_association ISO RGD:1346574 D RGD:9068941 20230401 RGD DNA:SNP: :p.W719R (rs20455) (human) PMID:19371834|PMID:21458191|PMID:26997531|REF_RGD_ID:243048447|REF_RGD_ID:243048449|REF_RGD_ID:243048451 11941223 KIF6 kinesin family member 6 gene DOID:3393 coronary artery disease sexual_dimorphism ISO RGD:1346574 D RGD:9068941 20230401 RGD associated with type 2 diabetes mellitus;DNA:SNP: :p.W719R (rs20455) (human) PMID:25629058|REF_RGD_ID:243048454 11941223 KIF6 kinesin family member 6 gene DOID:3393 coronary artery disease treatment ISO RGD:1346574 D RGD:9068941 20230401 RGD DNA:SNP: :p.W719R (rs20455) (human) PMID:26443250|REF_RGD_ID:11527801 11941223 KIF6 kinesin family member 6 gene DOID:5844 myocardial infarction ISO RGD:1346574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21943003 11941223 KIF6 kinesin family member 6 gene DOID:5844 myocardial infarction ISO RGD:1346574 D RGD:9068941 20230401 RGD DNA:SNP: :rs20455 (human) PMID:18222354|REF_RGD_ID:243048446 11941223 KIF6 kinesin family member 6 gene DOID:5844 myocardial infarction no_association ISO RGD:1346574 D RGD:9068941 20230401 RGD DNA:SNP: :p.W719R (rs20455) (human) PMID:19371834|PMID:20927332|PMID:26997531|REF_RGD_ID:243048447|REF_RGD_ID:243048449|REF_RGD_ID:243048450 11941223 KIF6 kinesin family member 6 gene DOID:5844 myocardial infarction treatment ISO RGD:1346574 D RGD:9068941 20230401 RGD DNA:SNP: :p.W719R (rs20455) (human) PMID:20403483|REF_RGD_ID:11097528 11941223 KIF6 kinesin family member 6 gene DOID:630 genetic disease ISO RGD:1346574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941223 KIF6 kinesin family member 6 gene DOID:9007096 Stroke ISO RGD:1346574 D RGD:9068941 20230401 RGD DNA:SNP: :p.W719R (rs20455) (human) PMID:19752551|REF_RGD_ID:2317144 11941223 KIF6 kinesin family member 6 gene DOID:9352 type 2 diabetes mellitus sexual_dimorphism ISO RGD:1346574 D RGD:9068941 20230401 RGD DNA:SNP: :p.W719R (rs20455) (human) PMID:25629058|REF_RGD_ID:243048454 11941223 KIF6 kinesin family member 6 gene DOID:9408 acute myocardial infarction ISO RGD:1346574 D RGD:9068941 20230401 RGD DNA:SNP: :p.W719R (rs20455) (human) PMID:20044086|REF_RGD_ID:243048455 11941261 HSF5 heat shock transcription factor 5 gene DOID:0050777 Joubert syndrome ISO RGD:1604244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11941261 HSF5 heat shock transcription factor 5 gene DOID:0111096 Fanconi anemia complementation group O ISO RGD:1604244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group O PMID:28492532 11941261 HSF5 heat shock transcription factor 5 gene DOID:1059 intellectual disability ISO RGD:1604244 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11941261 HSF5 heat shock transcription factor 5 gene DOID:630 genetic disease ISO RGD:1604244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941271 TOGARAM1 TOG array regulator of axonemal microtubules 1 gene DOID:0050777 Joubert syndrome ISO RGD:1321397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:32453716|PMID:32747439 11941271 TOGARAM1 TOG array regulator of axonemal microtubules 1 gene DOID:13636 Fanconi anemia ISO RGD:1321397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532|PMID:29895858|PMID:30075111 11941271 TOGARAM1 TOG array regulator of axonemal microtubules 1 gene DOID:630 genetic disease ISO RGD:1321397 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941271 TOGARAM1 TOG array regulator of axonemal microtubules 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321397 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11941271 TOGARAM1 TOG array regulator of axonemal microtubules 1 gene DOID:9007319 Joubert Syndrome 37 ISO RGD:1321397 D RGD:7240710 20210303 OMIM 11941271 TOGARAM1 TOG array regulator of axonemal microtubules 1 gene DOID:9007319 Joubert Syndrome 37 ISO RGD:1321397 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Joubert syndrome 37 PMID:25741868|PMID:32453716|PMID:32747439 11941302 TYW3 tRNA-yW synthesizing protein 3 homolog gene DOID:630 genetic disease ISO RGD:1603913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941316 NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1343672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency | ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder PMID:20818383|PMID:21681106|PMID:22072591|PMID:23553477|PMID:23828044|PMID:24033266|PMID:24088041|PMID:25245479|PMID:25356970|PMID:25741868|PMID:26633545|PMID:28492532|PMID:29982452|PMID:30897263|PMID:31787496|PMID:32518176 11941316 NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial gene DOID:0060892 late onset Parkinson's disease ISO RGD:1343672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:20818383|PMID:22072591|PMID:25741868|PMID:32518176|PMID:33224084 11941316 NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1343672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532|PMID:29982452 11941316 NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial gene DOID:0112088 nuclear type mitochondrial complex I deficiency 21 ISO RGD:1343672 D RGD:7240710 20190315 OMIM 11941316 NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial gene DOID:0112088 nuclear type mitochondrial complex I deficiency 21 ISO RGD:1343672 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 PMID:16199547|PMID:20818383|PMID:22072591|PMID:23553477|PMID:23828044|PMID:24088041|PMID:25245479|PMID:25356970|PMID:25741868|PMID:26633545|PMID:28492532|PMID:29417091|PMID:29982452|PMID:30897263|PMID:31787496|PMID:31917109|PMID:32518176|PMID:33224084 11941316 NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial gene DOID:14330 Parkinson's disease ISO RGD:1343672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson's disease PMID:20818383|PMID:22072591|PMID:25741868|PMID:32518176|PMID:33224084 11941316 NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial gene DOID:630 genetic disease ISO RGD:1343672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20818383|PMID:22072591|PMID:23553477|PMID:23828044|PMID:24088041|PMID:25245479|PMID:25356970|PMID:25741868|PMID:26633545|PMID:28492532|PMID:29982452|PMID:30897263|PMID:31787496|PMID:32518176|PMID:9536098 11941316 NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial gene DOID:700 mitochondrial metabolism disease ISO RGD:1343672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20818383 11941316 NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343672 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11941336 CEMIP2 cell migration inducing hyaluronidase 2 gene DOID:630 genetic disease ISO RGD:1317427 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941336 CEMIP2 cell migration inducing hyaluronidase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317427 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11941336 CEMIP2 cell migration inducing hyaluronidase 2 gene DOID:9003133 Hypertelorism ISO RGD:1317427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 11941336 CEMIP2 cell migration inducing hyaluronidase 2 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1317427 D RGD:9068941 20201211 RGD DNA:SNP:exon: p.Ser1254Asn (human) PMID:22610944|REF_RGD_ID:40886317 11941364 LBHD1 LBH domain containing 1 gene DOID:0080118 mitochondrial complex III deficiency nuclear type 9 ISO RGD:1604294 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 9 PMID:25008109|PMID:25741868|PMID:28492532 11941364 LBHD1 LBH domain containing 1 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1604294 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:28492532 11941364 LBHD1 LBH domain containing 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1604294 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11941364 LBHD1 LBH domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1604294 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Intellectual disability 11941364 LBHD1 LBH domain containing 1 gene DOID:630 genetic disease ISO RGD:1604294 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941382 CSF1 colony stimulating factor 1 gene DOID:0050169 cutaneous lupus erythematosus ISO RGD:731067 D RGD:9068941 20200609 RGD PMID:18981160|REF_RGD_ID:7257572 11941382 CSF1 colony stimulating factor 1 gene DOID:0080162 lupus nephritis ISO RGD:731066 D RGD:9068941 20200609 RGD PMID:17659436|REF_RGD_ID:7257589 11941382 CSF1 colony stimulating factor 1 gene DOID:0080162 lupus nephritis ISO RGD:731067 D RGD:9068941 20200609 RGD PMID:21885670|REF_RGD_ID:7257567 11941382 CSF1 colony stimulating factor 1 gene DOID:0080600 COVID-19 ISO RGD:731066 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 11941382 CSF1 colony stimulating factor 1 gene DOID:0080600 COVID-19 severity ISO RGD:731066 D RGD:9068941 20200618 RGD protein:increased expression:plasma (human) PMID:32360286|REF_RGD_ID:30309209 11941382 CSF1 colony stimulating factor 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:731066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11941382 CSF1 colony stimulating factor 1 gene DOID:12849 autistic disorder ISO RGD:731066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11941382 CSF1 colony stimulating factor 1 gene DOID:13533 osteopetrosis ISO RGD:621063 D RGD:9068941 20200609 RGD DNA:insertion:cds (rat) PMID:12379742|REF_RGD_ID:628338 11941382 CSF1 colony stimulating factor 1 gene DOID:13533 osteopetrosis ISO RGD:731067 D RGD:9068941 20220825 MouseDO 11941382 CSF1 colony stimulating factor 1 gene DOID:13949 interstitial cystitis treatment ISO RGD:731066 D RGD:9068941 20200609 RGD PMID:22441309|REF_RGD_ID:7241234 11941382 CSF1 colony stimulating factor 1 gene DOID:1612 breast cancer ISO RGD:731066 D RGD:9068941 20200609 RGD PMID:18172291|REF_RGD_ID:2293639 11941382 CSF1 colony stimulating factor 1 gene DOID:1790 malignant mesothelioma ISO RGD:731066 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 11941382 CSF1 colony stimulating factor 1 gene DOID:1936 atherosclerosis ISO RGD:731066 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:16166801|REF_RGD_ID:7257575 11941382 CSF1 colony stimulating factor 1 gene DOID:1936 atherosclerosis ISO RGD:731067 D RGD:9068941 20200609 RGD protein:increased expression:plasma (mouse) PMID:9637704|REF_RGD_ID:734837 11941382 CSF1 colony stimulating factor 1 gene DOID:289 endometriosis ISO RGD:731066 D RGD:9068941 20200813 RGD protein:increased expression:peritoneal fluid (human) PMID:22365076|REF_RGD_ID:38500240 11941382 CSF1 colony stimulating factor 1 gene DOID:2921 glomerulonephritis ISO RGD:731066 D RGD:9068941 20200609 RGD PMID:11477167|REF_RGD_ID:7257579 11941382 CSF1 colony stimulating factor 1 gene DOID:3021 acute kidney failure ISO RGD:731067 D RGD:9068941 20200609 RGD PMID:23143303|REF_RGD_ID:7257565 11941382 CSF1 colony stimulating factor 1 gene DOID:3070 high grade glioma ISO RGD:621063 D RGD:9068941 20200609 RGD PMID:15728459|REF_RGD_ID:2293641 11941382 CSF1 colony stimulating factor 1 gene DOID:418 systemic scleroderma ISO RGD:621063 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:22700848|REF_RGD_ID:7257593 11941382 CSF1 colony stimulating factor 1 gene DOID:4780 anti-basement membrane glomerulonephritis treatment ISO RGD:621063 D RGD:9068941 20200609 RGD PMID:19242505|REF_RGD_ID:7257569 11941382 CSF1 colony stimulating factor 1 gene DOID:5199 ureteral obstruction ISO RGD:731067 D RGD:9068941 20200609 RGD PMID:16951369|REF_RGD_ID:7257574 11941382 CSF1 colony stimulating factor 1 gene DOID:5199 ureteral obstruction ISO RGD:731067 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:23628901|REF_RGD_ID:7257564 11941382 CSF1 colony stimulating factor 1 gene DOID:5408 Paget's disease of bone ISO RGD:731066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20436471 11941382 CSF1 colony stimulating factor 1 gene DOID:630 genetic disease ISO RGD:731066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941382 CSF1 colony stimulating factor 1 gene DOID:783 end stage renal disease ISO RGD:731066 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:11340249|REF_RGD_ID:7257586 11941382 CSF1 colony stimulating factor 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:621063 D RGD:9068941 20200609 RGD PMID:9158105|REF_RGD_ID:1641957 11941382 CSF1 colony stimulating factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731066 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:18510570|REF_RGD_ID:2293638 11941382 CSF1 colony stimulating factor 1 gene DOID:9001542 Albuminuria treatment ISO RGD:621063 D RGD:9068941 20200609 RGD associated with Hypercholesterolemia and Diabetes Mellitus, Experimental PMID:8573750|REF_RGD_ID:7257591 11941382 CSF1 colony stimulating factor 1 gene DOID:9002371 Cardiotoxicity ISO RGD:731066 D RGD:9068941 20200910 CTD CTD Direct Evidence: marker/mechanism PMID:32068018 11941382 CSF1 colony stimulating factor 1 gene DOID:9002457 Experimental Arthritis ISO RGD:621063 D RGD:9068941 20210709 RGD protein:increased expression:dorsal root ganglion PMID:32510872|REF_RGD_ID:127338469 11941382 CSF1 colony stimulating factor 1 gene DOID:9004001 Facial Nerve Injuries ISO RGD:621063 D RGD:9068941 20200609 RGD protein:increased expression:facial VII nerve, microglial cell PMID:20831658|REF_RGD_ID:5131509 11941382 CSF1 colony stimulating factor 1 gene DOID:9004283 Transplant Rejection ISO RGD:621063 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:11981428|REF_RGD_ID:7257590 11941382 CSF1 colony stimulating factor 1 gene DOID:9004283 Transplant Rejection ISO RGD:731066 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:19196448|REF_RGD_ID:7257570 11941382 CSF1 colony stimulating factor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731066 D RGD:9068941 20200609 RGD PMID:15205327|REF_RGD_ID:2293710 11941382 CSF1 colony stimulating factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621063 D RGD:9068941 20220407 RGD mRNA,protein:increased expression:retina (rat) PMID:19219684|REF_RGD_ID:151665779 11941382 CSF1 colony stimulating factor 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:731066 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:19196448|REF_RGD_ID:7257570 11941382 CSF1 colony stimulating factor 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:731067 D RGD:9068941 20200609 RGD PMID:23143303|REF_RGD_ID:7257565 11941382 CSF1 colony stimulating factor 1 gene DOID:9007083 Edentulous Mouth ISO RGD:621063 D RGD:9068941 20210219 RGD PMID:12379742|REF_RGD_ID:628338 11941382 CSF1 colony stimulating factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:731066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16618760 11941382 CSF1 colony stimulating factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:731067 D RGD:9068941 20200609 RGD PMID:16618760|REF_RGD_ID:2293640 11941382 CSF1 colony stimulating factor 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:731067 D RGD:9068941 20200609 RGD PMID:15383612|REF_RGD_ID:7257578 11941382 CSF1 colony stimulating factor 1 gene DOID:9120 amyloidosis ISO RGD:731066 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:12038073|REF_RGD_ID:7257581 11941382 CSF1 colony stimulating factor 1 gene DOID:9620 vesicoureteral reflux ISO RGD:731066 D RGD:9068941 20200609 RGD PMID:12110011|REF_RGD_ID:7257580 11941423 RNF225 ring finger protein 225 gene DOID:630 genetic disease ISO RGD:9587522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941427 PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 gene DOID:0060041 autism spectrum disorder ISO RGD:732942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11941427 PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 gene DOID:0080236 autosomal dominant intellectual developmental disorder 45 ISO RGD:732942 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 45 PMID:25741868 11941427 PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:732942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11941427 PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 gene DOID:1342 congenital hypoplastic anemia ISO RGD:732942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11941427 PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 gene DOID:2340 craniosynostosis ISO RGD:732942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:28492532 11941427 PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 gene DOID:5419 schizophrenia ISO RGD:732942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11941427 PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 gene DOID:630 genetic disease ISO RGD:732942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941427 PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:732942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11941427 PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 gene DOID:9006994 INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN ISO RGD:732942 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with persistence of fetal hemoglobin PMID:25741868 11941427 PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 gene DOID:9269 maple syrup urine disease ISO RGD:732942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11941432 ZNF227 zinc finger protein 227 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1351628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 11941432 ZNF227 zinc finger protein 227 gene DOID:5419 schizophrenia ISO RGD:1351628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11941432 ZNF227 zinc finger protein 227 gene DOID:630 genetic disease ISO RGD:1351628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941464 SNW1 SNW domain containing 1 gene DOID:11446 sciatic neuropathy ISO RGD:1561926 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve (rat) PMID:23389663|REF_RGD_ID:11035242 11941464 SNW1 SNW domain containing 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1321977 D RGD:9068941 20200609 RGD DNA:snp:intron: T>A (human) (rs1477261) PMID:19377877|REF_RGD_ID:2683526 11941464 SNW1 SNW domain containing 1 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1321977 D RGD:9068941 20200609 RGD DNA:snp:intron: T>A (human) (rs1477261) PMID:20056645|REF_RGD_ID:11035249 11941464 SNW1 SNW domain containing 1 gene DOID:3459 breast carcinoma severity ISO RGD:1321977 D RGD:9068941 20200609 RGD protein:increased expression:breast (human) PMID:24150787|REF_RGD_ID:11035252 11941464 SNW1 SNW domain containing 1 gene DOID:630 genetic disease ISO RGD:1321977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941464 SNW1 SNW domain containing 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1321977 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:23696020|REF_RGD_ID:11035253 11941464 SNW1 SNW domain containing 1 gene DOID:9000998 Brain Injuries ISO RGD:1561926 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex (rat) PMID:22965216|REF_RGD_ID:11035237 11941464 SNW1 SNW domain containing 1 gene DOID:9008091 Optic Nerve Injuries ISO RGD:1561926 D RGD:9068941 20200609 RGD protein:increased expression:retina (rat) PMID:25074585|REF_RGD_ID:11035254 11941488 APLN apelin gene DOID:0060180 colitis ISO RGD:1332289 D RGD:9068941 20200609 RGD PMID:17391779|REF_RGD_ID:1626177 11941488 APLN apelin gene DOID:0060180 colitis ISO RGD:620672 D RGD:9068941 20200609 RGD PMID:17391779|REF_RGD_ID:1626177 11941488 APLN apelin gene DOID:0060224 atrial fibrillation ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16278229|REF_RGD_ID:1626174 11941488 APLN apelin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11941488 APLN apelin gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:1351986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:22796527|PMID:24357419|PMID:28492532 11941488 APLN apelin gene DOID:1056 oculocerebrorenal syndrome ISO RGD:1351986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lowe syndrome PMID:22965764|PMID:28492532 11941488 APLN apelin gene DOID:10763 hypertension ISO RGD:620672 D RGD:9068941 20200609 RGD mRNA:decreased expression:aorta, heart PMID:15664402|REF_RGD_ID:1626176 11941488 APLN apelin gene DOID:11981 morbid obesity ISO RGD:1351986 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:19756893|REF_RGD_ID:2313938 11941488 APLN apelin gene DOID:11981 morbid obesity ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15970339|REF_RGD_ID:1600932 11941488 APLN apelin gene DOID:12849 autistic disorder ISO RGD:1351986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11941488 APLN apelin gene DOID:1920 hyperuricemia ISO RGD:1351986 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30710622 11941488 APLN apelin gene DOID:4248 coronary stenosis ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:19015606|REF_RGD_ID:2313942 11941488 APLN apelin gene DOID:6000 congestive heart failure ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16263185|REF_RGD_ID:1626175 11941488 APLN apelin gene DOID:6000 congestive heart failure ISO RGD:620672 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary PMID:17055480|REF_RGD_ID:1626171 11941488 APLN apelin gene DOID:6000 congestive heart failure ISO RGD:620672 D RGD:9068941 20200609 RGD protein:increased expression:ventricle myocardium PMID:17119870|REF_RGD_ID:1626186 11941488 APLN apelin gene DOID:630 genetic disease ISO RGD:1351986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941488 APLN apelin gene DOID:6432 pulmonary hypertension ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16263185|REF_RGD_ID:1626175 11941488 APLN apelin gene DOID:684 hepatocellular carcinoma ISO RGD:1351986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11941488 APLN apelin gene DOID:8577 ulcerative colitis ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:increased expression:intestine PMID:17391779|REF_RGD_ID:1626177 11941488 APLN apelin gene DOID:8778 Crohn's disease ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:increased expression:intestine PMID:17391779|REF_RGD_ID:1626177 11941488 APLN apelin gene DOID:9000784 Fibrosis ISO RGD:1351986 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:30634441 11941488 APLN apelin gene DOID:9003936 Cardiomegaly ISO RGD:1351986 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:30634441 11941488 APLN apelin gene DOID:9003936 Cardiomegaly ISO RGD:620672 D RGD:9068941 20200609 RGD associated with Hypertension;protein:decreased expression:plasma, aorta, ventricle myocardium PMID:16674982|REF_RGD_ID:1626173 11941488 APLN apelin gene DOID:9006024 Hypotension ISO RGD:1351986 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:30634441 11941488 APLN apelin gene DOID:9007692 Insulin Resistance ISO RGD:620672 D RGD:9068941 20200609 RGD mRNA:increased expression:subcutaneous adipose tissue PMID:17594060|REF_RGD_ID:1626170 11941488 APLN apelin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:18484561|REF_RGD_ID:2313944 11941488 APLN apelin gene DOID:9775 diastolic heart failure ISO RGD:1351986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 11941488 APLN apelin gene DOID:9970 obesity ISO RGD:620672 D RGD:9068941 20200609 RGD mRNA:increased expression:subcutaneous adipose tissue PMID:17594060|REF_RGD_ID:1626170 11941493 ITIH5 inter-alpha-trypsin inhibitor heavy chain 5 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1606774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11941493 ITIH5 inter-alpha-trypsin inhibitor heavy chain 5 gene DOID:10283 prostate cancer ISO RGD:1606774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11941493 ITIH5 inter-alpha-trypsin inhibitor heavy chain 5 gene DOID:630 genetic disease ISO RGD:1606774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941511 LOC100969667 olfactory receptor 8J1 gene DOID:1059 intellectual disability ISO RGD:1348514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11941511 LOC100969667 olfactory receptor 8J1 gene DOID:630 genetic disease ISO RGD:1348514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941512 PAPLN papilin, proteoglycan like sulfated glycoprotein gene DOID:1059 intellectual disability ISO RGD:1322495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11941512 PAPLN papilin, proteoglycan like sulfated glycoprotein gene DOID:630 genetic disease ISO RGD:1322495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941541 CA12 carbonic anhydrase 12 gene DOID:0050861 colorectal adenocarcinoma severity ISO RGD:1315327 D RGD:9068941 20220916 RGD PMID:10666387|REF_RGD_ID:155226866 11941541 CA12 carbonic anhydrase 12 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1315327 D RGD:9068941 20220916 RGD PMID:22172588|REF_RGD_ID:153352330 11941541 CA12 carbonic anhydrase 12 gene DOID:0080199 colorectal carcinoma disease_progression ISO RGD:1315327 D RGD:9068941 20220916 RGD PMID:27688658|REF_RGD_ID:155226860 11941541 CA12 carbonic anhydrase 12 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1315327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11941541 CA12 carbonic anhydrase 12 gene DOID:0111371 isolated hyperchlorhidrosis ISO RGD:1315327 D RGD:7240710 20180130 OMIM 11941541 CA12 carbonic anhydrase 12 gene DOID:0111371 isolated hyperchlorhidrosis ISO RGD:1315327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated hyperchlorhidrosis PMID:21035102|PMID:21184099|PMID:25741868|PMID:26911677|PMID:28492532 11941541 CA12 carbonic anhydrase 12 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1315327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 11941541 CA12 carbonic anhydrase 12 gene DOID:1324 lung cancer ISO RGD:1315327 D RGD:9068941 20220916 RGD protein:increased expression:serum; PMID:22439015|REF_RGD_ID:155226862 11941541 CA12 carbonic anhydrase 12 gene DOID:234 colon adenocarcinoma disease_progression ISO RGD:1315327 D RGD:9068941 20220915 RGD PMID:35847888|REF_RGD_ID:153352327 11941541 CA12 carbonic anhydrase 12 gene DOID:2717 Bloom syndrome ISO RGD:1315327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11941541 CA12 carbonic anhydrase 12 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1315327 D RGD:9068941 20220916 RGD PMID:26316888|REF_RGD_ID:155226859 11941541 CA12 carbonic anhydrase 12 gene DOID:3883 Lynch syndrome ISO RGD:1315327 D RGD:9068941 20220916 RGD protein:decreased expression:colorectum PMID:17855694|REF_RGD_ID:155226867 11941541 CA12 carbonic anhydrase 12 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1315034 D RGD:9068941 20220916 RGD PMID:23910904|REF_RGD_ID:155226863 11941541 CA12 carbonic anhydrase 12 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1315327 D RGD:9068941 20220916 RGD PMID:20521252|REF_RGD_ID:155226864 11941541 CA12 carbonic anhydrase 12 gene DOID:5015 fibrolamellar carcinoma ISO RGD:1315327 D RGD:9068941 20220915 RGD mRNA:increased expression:liver PMID:28304380|REF_RGD_ID:153352326 11941541 CA12 carbonic anhydrase 12 gene DOID:630 genetic disease ISO RGD:1315327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941541 CA12 carbonic anhydrase 12 gene DOID:684 hepatocellular carcinoma ISO RGD:1315327 D RGD:9068941 20220916 RGD mRNA:altered expression:liver PMID:29900055|REF_RGD_ID:155226869 11941541 CA12 carbonic anhydrase 12 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1315328 D RGD:9068941 20220915 RGD PMID:35362480|REF_RGD_ID:153352325 11941541 CA12 carbonic anhydrase 12 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1315327 D RGD:9068941 20220915 RGD PMID:31934040|PMID:35362480|REF_RGD_ID:153352325|REF_RGD_ID:153352328 11941541 CA12 carbonic anhydrase 12 gene DOID:9005172 Lung Neoplasms ISO RGD:1315327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 11941541 CA12 carbonic anhydrase 12 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1315327 D RGD:9068941 20220915 RGD protein:decreased expression:colorectal mucosa PMID:15849821|REF_RGD_ID:153352324 11941541 CA12 carbonic anhydrase 12 gene DOID:9009121 lung metastasis ameliorates ISO RGD:1315327 D RGD:9068941 20220916 RGD associated with breast cancer; PMID:29786141|REF_RGD_ID:155226861 11941541 CA12 carbonic anhydrase 12 gene DOID:9256 colorectal cancer ISO RGD:1315327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11941562 LOC100971854 5-hydroxytryptamine receptor 3E gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1347568 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11941562 LOC100971854 5-hydroxytryptamine receptor 3E gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1347568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11941562 LOC100971854 5-hydroxytryptamine receptor 3E gene DOID:0111546 Currarino syndrome ISO RGD:1347568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11941562 LOC100971854 5-hydroxytryptamine receptor 3E gene DOID:630 genetic disease ISO RGD:1347568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941573 SEMA4G semaphorin 4G gene DOID:630 genetic disease ISO RGD:1321336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type PMID:15181170|PMID:15351195|PMID:16401742|PMID:19578034|PMID:19752458|PMID:21880868|PMID:22647225|PMID:23426270|PMID:23811324|PMID:24122062|PMID:24259288|PMID:24331360|PMID:24508722|PMID:25193669|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29029963|PMID:30255931|PMID:30373890|PMID:31571979|PMID:31658717|PMID:31669236|PMID:32234506 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0050700 cardiomyopathy ISO RGD:732179 D RGD:9068941 20200609 RGD PMID:17310215|REF_RGD_ID:8694182 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0050753 cerebellar ataxia ISO RGD:732179 D RGD:9068941 20200609 RGD associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations:cds: PMID:20803511|REF_RGD_ID:8694192 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:732179 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary progressive multiple sclerosis PMID:16401742|PMID:21880868|PMID:25741868|PMID:26467025|PMID:28480171|PMID:28492532|PMID:32504279 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0050908 myelodysplastic syndrome ISO RGD:732180 D RGD:9068941 20220825 MouseDO OMIM:614286 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0060794 hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism ISO RGD:732179 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 4h syndrome | ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome PMID:16545482|PMID:17538929|PMID:18716558|PMID:19195941|PMID:21670405|PMID:21824913|PMID:21880868|PMID:21953457|PMID:22084276|PMID:24642831|PMID:25741868|PMID:26467025|PMID:28492532 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0060898 Parkinson's disease 20 ISO RGD:732179 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:18414213|PMID:21357833|PMID:21880868|PMID:25741868|PMID:26467025|PMID:28337550|PMID:28492532|PMID:28776642 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:732179 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:16401742|PMID:18487244|PMID:21301859|PMID:21880868|PMID:22000311|PMID:22114710|PMID:22357363|PMID:24033266|PMID:24508722|PMID:24642831|PMID:25203713|PMID:25741868|PMID:26077851|PMID:26095671|PMID:26467025|PMID:27538604|PMID:27987238|PMID:28074849|PMID:28337550|PMID:28480171|PMID:28492532|PMID:30609409|PMID:32504279|PMID:33671400 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080119 mitochondrial DNA depletion syndrome 1 ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MNGIE, TYMP-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type) PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:16896309|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:20837861|PMID:20843780|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22863191|PMID:22931735|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25462018|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:27119776|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:29029963|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30369941|PMID:30373890|PMID:30423451|PMID:30487145|PMID:30818899|PMID:30936349|PMID:31085725|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32042919|PMID:32234506|PMID:32445240|PMID:32567010|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:7240710 20181219 OMIM 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:11301032|PMID:11431686|PMID:11555352|PMID:11571332|PMID:11897778|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14467368|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15258572|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15800909|PMID:1582434|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16595552|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16857757|PMID:16919951|PMID:16929381|PMID:16940310|PMID:16943369|PMID:16957900|PMID:17067213|PMID:17088268|PMID:17280874|PMID:17310215|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17502560|PMID:17538929|PMID:17576681|PMID:17725985|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18446447|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19275594|PMID:19307547|PMID:19344718|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19837034|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20400524|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:2067633|PMID:20691285|PMID:20701905|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:20883824|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21301859|PMID:21305355|PMID:21357833|PMID:21447491|PMID:21455106|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21696159|PMID:21704543|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22334187|PMID:22342071|PMID:22357363|PMID:22377773|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22552686|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22778364|PMID:22863191|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23545419|PMID:23665194|PMID:23719791|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23836942|PMID:23873972|PMID:23921535|PMID:2392416|PMID:24033266|PMID:24086434|PMID:24091540|PMID:24099403|PMID:24122062|PMID:24194468|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24398692|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25065347|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25281868|PMID:25286830|PMID:25340760|PMID:25356970|PMID:25412673|PMID:25429852|PMID:25462018|PMID:25466440|PMID:25488682|PMID:25497598|PMID:25525159|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25771874|PMID:25850945|PMID:25914719|PMID:25940035|PMID:26050231|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26554610|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:2725645|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27381400|PMID:27422324|PMID:27450679 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:27538604|PMID:27538665|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28430993|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28815208|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29302508|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29950568|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30818899|PMID:30838265|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30951992|PMID:31147703|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31613174|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31980526|PMID:31996268|PMID:32019516|PMID:32234506|PMID:32347949|PMID:32348839|PMID:32502631|PMID:32600829|PMID:32703289|PMID:33258288|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34194468|PMID:34782754|PMID:35307828|PMID:632821|PMID:7847370|PMID:9500334|PMID:9536098 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:11301032|PMID:11431686|PMID:11555352|PMID:11571332|PMID:11897778|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14467368|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15258572|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15800909|PMID:1582434|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16595552|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16919951|PMID:16929381|PMID:16940310|PMID:16943369|PMID:16957900|PMID:17067213|PMID:17088268|PMID:17280874|PMID:17310215|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17502560|PMID:17538929|PMID:17576681|PMID:17725985|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18446447|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19275594|PMID:19307547|PMID:19344718|PMID:19364868|PMID:19478085|PMID:19500334|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19837034|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20220442|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20400524|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:2067633|PMID:20691285|PMID:20701905|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:20883824|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21301859|PMID:21305355|PMID:21357833|PMID:21447491|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21696159|PMID:21704543|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22084276|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22215559|PMID:22237560|PMID:22277967|PMID:22334187|PMID:22342071|PMID:22357363|PMID:22377773|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22552686|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22778364|PMID:22863191|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23545419|PMID:23665194|PMID:23719791|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23830586|PMID:23836942|PMID:23873972|PMID:23921535|PMID:2392416|PMID:24033266|PMID:24086434|PMID:24091540|PMID:24099403|PMID:24122062|PMID:24194468|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24398692|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25065347|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25281868|PMID:25286830|PMID:25340760|PMID:25356970|PMID:25412673|PMID:25429852|PMID:25462018|PMID:25466440|PMID:25488682|PMID:25497598|PMID:25525159|PMID:25585994|PMID:25638290|PMID:25660390|PMID:25713120|PMID:25724872|PMID:25741868|PMID:25742477|PMID:25771874|PMID:25850945|PMID:25914719|PMID:25940035|PMID:26050231|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26554610|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:27111573|PMID:27119776|PMID:27185166|PMID:2725645|PMID:27271921|PMID:27290639|PMID:27349602|PMID:27381400|PMID:27422324|PMID:27450679|PMID:27475922|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28430993|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28815208|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29278894|PMID:29302508|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29644085|PMID:29655203|PMID:29712893|PMID:29915382|PMID:29920680|PMID:29950568|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30385167|PMID:30404819|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30609409|PMID:30634555|PMID:30637288|PMID:30678510|PMID:30755392|PMID:30818899|PMID:30831263|PMID:30838265|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31085725|PMID:31147703|PMID:31164858|PMID:31425757|PMID:31475037|PMID:31521625|PMID:31571979|PMID:31589614|PMID:31613174|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31731261|PMID:31762033|PMID:31980526|PMID:31996268|PMID:32005694|PMID:32019516|PMID:32042919|PMID:32161153|PMID:32234506|PMID:32347949|PMID:32348839|PMID:32445240|PMID:32502631|PMID:32504279|PMID:32567010|PMID:32600829|PMID:32703289|PMID:32964447|PMID:33233646|PMID:33258288|PMID:33278787|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33579567|PMID:33600046|PMID:33671400|PMID:33726816|PMID:33791913|PMID:34008892|PMID:34194468|PMID:34690748|PMID:34782754|PMID:35307828|PMID:632821|PMID:7847370|PMID:9536098 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:11301032|PMID:11431686|PMID:11555352|PMID:11571332|PMID:11897778|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14467368|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15258572|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15800909|PMID:1582434|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16595552|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16919951|PMID:16929381|PMID:16940310|PMID:16943369|PMID:16957900|PMID:17067213|PMID:17088268|PMID:17280874|PMID:17310215|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17502560|PMID:17538929|PMID:17576681|PMID:17725985|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18446447|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19275594|PMID:19307547|PMID:19344718|PMID:19364868|PMID:19478085|PMID:19500334|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19837034|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20220442|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20400524|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:2067633|PMID:20691285|PMID:20701905|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:20883824|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21301859|PMID:21305355|PMID:21357833|PMID:21447491|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21696159|PMID:21704543|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22084276|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22215559|PMID:22237560|PMID:22277967|PMID:22334187|PMID:22342071|PMID:22357363|PMID:22377773|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22552686|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22778364|PMID:22805437|PMID:22863191|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23545419|PMID:23665194|PMID:23719791|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23830586|PMID:23836942|PMID:23873972|PMID:23921535|PMID:2392416|PMID:24033266|PMID:24086434|PMID:24091540|PMID:24099403|PMID:24122062|PMID:24194468|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24398692|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25065347|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25281868|PMID:25286830|PMID:25340760|PMID:25356970|PMID:25412673|PMID:25429852|PMID:25462018|PMID:25466440|PMID:25488682|PMID:25497598|PMID:25525159|PMID:25585994|PMID:25638290|PMID:25660390|PMID:25713120|PMID:25724872|PMID:25741868|PMID:25742477|PMID:25771874|PMID:25850945|PMID:25914719|PMID:25940035|PMID:26050231|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26554610|PMID:26557169|PMID:26607151|PMID:26640698|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:26968897|PMID:27016405|PMID:27111573|PMID:27119776|PMID:27185166|PMID:2725645|PMID:27271921|PMID:27290639|PMID:27349602|PMID:27381400|PMID:27422324|PMID:27450679|PMID:27475922|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28430993|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28815208|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29278894|PMID:29302508|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29644085|PMID:29655203|PMID:29712893|PMID:29915382|PMID:29920680|PMID:29950568|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30385167|PMID:30404819|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30609409|PMID:30634555|PMID:30637288|PMID:30678510|PMID:30755392|PMID:30818899|PMID:30831263|PMID:30838265|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31085725|PMID:31147703|PMID:31164858|PMID:31425757|PMID:31475037|PMID:31521625|PMID:31571979|PMID:31589614|PMID:31613174|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31731261|PMID:31762033|PMID:31980526|PMID:31996268|PMID:32005694|PMID:32019516|PMID:32042919|PMID:32161153|PMID:32234506|PMID:32347949|PMID:32348839|PMID:32445240|PMID:32502631|PMID:32504279|PMID:32567010|PMID:32600829|PMID:32703289|PMID:32964447|PMID:33233646|PMID:33258288|PMID:33278787|PMID:33396418|PMID:33434755|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33579567|PMID:33600046|PMID:33671400|PMID:33726816|PMID:33791913|PMID:34008892|PMID:34194468|PMID:34690748|PMID:34782754|PMID:35307828|PMID:632821|PMID:7847370|PMID:9536098 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome susceptibility ISO RGD:620057 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P1073L (3218C>T) (human) PMID:20142534|REF_RGD_ID:15039298 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome susceptibility ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P1073L (3218C>T) (human) PMID:20142534|REF_RGD_ID:15039298 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome susceptibility ISO RGD:732180 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P1073L (3218C>T) (human) PMID:20142534|REF_RGD_ID:15039298 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080123 mitochondrial DNA depletion syndrome 4B ISO RGD:732179 D RGD:7240710 20180130 OMIM 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080123 mitochondrial DNA depletion syndrome 4B ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4B, MNGIE type | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4b PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16940310|PMID:16957900|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:20883824|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21301859|PMID:21357833|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22277967|PMID:22342071|PMID:22357363|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25914719|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28958595|PMID:29029963|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30609409|PMID:30634555|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30951992|PMID:31085725|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31980526|PMID:32005694|PMID:32042919|PMID:32234506|PMID:32348839|PMID:32445240|PMID:32502631|PMID:32567010|PMID:33233646|PMID:33396418 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080123 mitochondrial DNA depletion syndrome 4B ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4B, MNGIE type | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4b PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34690748|PMID:34782754|PMID:632821|PMID:7847370 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080126 mitochondrial DNA depletion syndrome 7 ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: mitochondrial hepatopathy PMID:25741868 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16621917|PMID:16638794|PMID:16639411|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:20837861|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21357833|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21880868|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22863191|PMID:22931735|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23811324|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25462018|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:27119776|PMID:27538604|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:29029963|PMID:29341116|PMID:29474836|PMID:29482223|PMID:29588995|PMID:30255931|PMID:30290626|PMID:30373890|PMID:31571979|PMID:31658717|PMID:31669236|PMID:32234506|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:16896309|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:20837861|PMID:20843780|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22863191|PMID:22931735|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25462018|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:27119776|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:29029963|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30369941|PMID:30373890|PMID:30423451|PMID:30487145|PMID:30818899|PMID:30936349|PMID:31085725|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32042919|PMID:32234506|PMID:32445240|PMID:32567010|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080855 Parkinsonism ISO RGD:732179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17923349 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U PMID:14557557|PMID:14635118|PMID:16401742|PMID:16940310|PMID:18546365|PMID:19578034|PMID:21880868|PMID:23921535|PMID:24508722|PMID:25118206|PMID:25462018|PMID:25741868|PMID:26095671|PMID:26357557|PMID:26467025|PMID:27119776|PMID:27987238|PMID:28128857|PMID:28492532|PMID:29474836|PMID:30404819|PMID:30637288 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0111091 Fanconi anemia complementation group I ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group I PMID:18414213|PMID:22778927|PMID:23524600|PMID:25741868|PMID:26467025|PMID:27987238|PMID:28492532|PMID:28678401 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:732179 D RGD:7240710 20180130 OMIM 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:732179 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16919951|PMID:16940310|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:29029963|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32234506|PMID:33469851|PMID:33473333|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:732179 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16919951|PMID:16940310|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19344718|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:29029963|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32234506|PMID:32567010|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:732179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16919951|PMID:16940310|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17502560|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19344718|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:29029963|PMID:29272804|PMID:29302508|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31085725|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32042919|PMID:32234506|PMID:32445240|PMID:32567010|PMID:33233646|PMID:33396418|PMID:33434755|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33600046|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:732179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0111521 autosomal dominant progressive external ophthalmoplegia 1 ISO RGD:732179 D RGD:7240710 20180130 OMIM 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0111521 autosomal dominant progressive external ophthalmoplegia 1 ISO RGD:732179 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 PMID:11431686|PMID:11555352|PMID:11571332|PMID:11897778|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14467368|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15258572|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16595552|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17310215|PMID:17418573|PMID:17420318|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17725985|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18446447|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20220442|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:2067633|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20883824|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21696159|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24398692|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25340760|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25914719|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26554610|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:2725645|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28430993|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28901595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31085725|PMID:31147703|PMID:31164858|PMID:31475037|PMID:31521625|PMID:31571979 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0111521 autosomal dominant progressive external ophthalmoplegia 1 ISO RGD:732179 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32042919|PMID:32161153|PMID:32234506|PMID:32445240|PMID:32567010|PMID:33233646|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33600046|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 ISO RGD:732179 D RGD:7240710 20191127 OMIM 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16919951|PMID:16940310|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18195151|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20701905|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20883824|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22189570|PMID:22334187|PMID:22342071|PMID:22494076|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25914719|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27381400|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:29029963|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31085725|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31762033|PMID:31980526|PMID:32042919|PMID:32234506|PMID:32445240|PMID:32567010|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:1059 intellectual disability ISO RGD:732179 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:14745080|PMID:15181170|PMID:15351195|PMID:16401742|PMID:16545482|PMID:17426723|PMID:17538929|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18487244|PMID:18546365|PMID:18716558|PMID:19103152|PMID:19195941|PMID:19251978|PMID:19478085|PMID:19578034|PMID:19752458|PMID:19862739|PMID:20185557|PMID:20818383|PMID:21259344|PMID:21654874|PMID:21670405|PMID:21824913|PMID:21880868|PMID:21953457|PMID:22000311|PMID:22494076|PMID:22647225|PMID:23084792|PMID:23299917|PMID:23426270|PMID:23430834|PMID:23811324|PMID:24122062|PMID:24259288|PMID:24331360|PMID:24508722|PMID:24642831|PMID:25193669|PMID:25741868|PMID:26467025|PMID:27538665|PMID:28130605|PMID:28492532|PMID:29029963|PMID:29474836|PMID:30167885|PMID:30255931|PMID:30373890|PMID:30818899|PMID:31571979|PMID:31658717|PMID:31669236|PMID:32234506|PMID:33486010 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:1059 intellectual disability ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:14745080|PMID:15181170|PMID:15351195|PMID:16401742|PMID:16545482|PMID:17426723|PMID:17538929|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18487244|PMID:18546365|PMID:18716558|PMID:19103152|PMID:19195941|PMID:19251978|PMID:19478085|PMID:19578034|PMID:19752458|PMID:19862739|PMID:20185557|PMID:20818383|PMID:21259344|PMID:21484424|PMID:21654874|PMID:21670405|PMID:21824913|PMID:21880868|PMID:21953457|PMID:22000311|PMID:22084276|PMID:22494076|PMID:22647225|PMID:23084792|PMID:23299917|PMID:23426270|PMID:23430834|PMID:23811324|PMID:24122062|PMID:24259288|PMID:24331360|PMID:24508722|PMID:24642831|PMID:25193669|PMID:25741868|PMID:26467025|PMID:27538665|PMID:28130605|PMID:28480171|PMID:28492532|PMID:29029963|PMID:29474836|PMID:30167885|PMID:30255931|PMID:30373890|PMID:30818899|PMID:31085725|PMID:31571979|PMID:31658717|PMID:31669236|PMID:32234506|PMID:32445240|PMID:32504279|PMID:32964447|PMID:33233646|PMID:33486010 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:10787 premature menopause ISO RGD:732179 D RGD:9068941 20200609 RGD associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations: : PMID:15351195|REF_RGD_ID:8694175 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:10907 microcephaly ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:11832 visual epilepsy ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17280874|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21276947|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23448099|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29474836|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30255931|PMID:30373890|PMID:30404819|PMID:30637288|PMID:30843307|PMID:30951992|PMID:31571979|PMID:31655921|PMID:31658717|PMID:31669236|PMID:32019516|PMID:32234506|PMID:32348839|PMID:32502631|PMID:33469851|PMID:34008892|PMID:34782754|PMID:35307828|PMID:632821|PMID:7847370 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15689359|PMID:16401742|PMID:16621917|PMID:17418573|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:20385918|PMID:20513108|PMID:21138766|PMID:21880868|PMID:22616202|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24122062|PMID:24265579|PMID:24508722|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27538604|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30936349|PMID:31645654|PMID:33396418|PMID:34008892|PMID:7847370 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:12336 male infertility ISO RGD:732179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17923349 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:732179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17923349 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human) PMID:12565911|REF_RGD_ID:8694170 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:12975295|PMID:16401742|REF_RGD_ID:8694163|REF_RGD_ID:8694183 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:mutations:exons,intron:1532G>A,1389G>T, c.2070 + 158G>A(human) PMID:17420318|REF_RGD_ID:8694204 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human) PMID:11431686|REF_RGD_ID:737726 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:12849 autistic disorder ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:18156159|PMID:21880868|PMID:25741868|PMID:26467025|PMID:28492532 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:12849 autistic disorder ISO RGD:732179 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autistic disorder PMID:18156159|PMID:21880868|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33600046 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:13636 Fanconi anemia ISO RGD:732179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452773|PMID:17460694|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:22720145|PMID:23783014|PMID:24033266|PMID:24989076|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:26590883|PMID:28492532|PMID:28678401 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:1389 polyneuropathy ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyneuropathy 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:14264 benign neonatal seizures ISO RGD:732179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: neonatal seizures PMID:14635118|PMID:16919951|PMID:20185557|PMID:21357833|PMID:21550804|PMID:21880868|PMID:25741868|PMID:28471437|PMID:28492532 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:14330 Parkinson's disease ISO RGD:732179 D RGD:9068941 20200609 RGD associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutation:cds:p.K512M(human) PMID:23865558|REF_RGD_ID:8694203 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:14330 Parkinson's disease ISO RGD:732179 D RGD:9068941 20200609 RGD associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations: : PMID:15351195|REF_RGD_ID:8694175 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:14330 Parkinson's disease onset ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:missense mutations:exons:p.R853W,p.G737R(human) PMID:16634032|REF_RGD_ID:8694201 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:1824 status epilepticus ISO RGD:620057 D RGD:9068941 20200609 RGD PMID:18295498|REF_RGD_ID:2317139 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizure Disorders | ClinVar Annotator: match by term: Seizures PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21276947|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32234506|PMID:33469851|PMID:33473333|PMID:33726816|PMID:34008892|PMID:34782754|PMID:35307828|PMID:632821|PMID:7847370 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder | ClinVar Annotator: match by term: Seizures PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17280874|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21276947|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23448099|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30951992|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32019516|PMID:32234506|PMID:32348839|PMID:32502631|PMID:33469851|PMID:33473333|PMID:33726816|PMID:34008892|PMID:34782754|PMID:35307828|PMID:632821 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder | ClinVar Annotator: match by term: Seizures PMID:7847370 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17280874|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21276947|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23448099|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30951992|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32019516|PMID:32234506|PMID:32348839|PMID:32502631|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34782754 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:35307828|PMID:632821|PMID:7847370 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17280874|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21276947|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23448099|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30951992|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31980526|PMID:32019516|PMID:32234506|PMID:32348839|PMID:32502631|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:34008892|PMID:34690748|PMID:34782754|PMID:35307828|PMID:632821|PMID:7847370 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:15181170|PMID:15351195|PMID:16401742|PMID:16545482|PMID:17538929|PMID:18156159|PMID:18716558|PMID:19195941|PMID:19578034|PMID:19752458|PMID:21670405|PMID:21824913|PMID:21880868|PMID:21953457|PMID:22084276|PMID:22647225|PMID:23426270|PMID:23811324|PMID:24122062|PMID:24259288|PMID:24331360|PMID:24508722|PMID:24642831|PMID:25193669|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29029963|PMID:30255931|PMID:30373890|PMID:31571979|PMID:31658717|PMID:31669236|PMID:32234506|PMID:33600046 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:2377 multiple sclerosis ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:missense mutations:cds: PMID:20837861|REF_RGD_ID:8694283 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:2476 hereditary spastic paraplegia ISO RGD:732179 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16715201|PMID:16857757|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195151|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20176107|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21301859|PMID:21357833|PMID:21515089|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22357363|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27422324|PMID:27538604|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29588995|PMID:29655203|PMID:29992832|PMID:30167885|PMID:30255931|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30843307|PMID:30936349|PMID:30951992|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32234506|PMID:32348839|PMID:32502631|PMID:33473333|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:2476 hereditary spastic paraplegia ISO RGD:732179 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16715201|PMID:16857757|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195151|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20176107|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21301859|PMID:21357833|PMID:21515089|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22357363|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27422324|PMID:27538604|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29588995|PMID:29655203|PMID:29992832|PMID:30167885|PMID:30255931|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30843307|PMID:30936349|PMID:30951992|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31980526|PMID:32234506|PMID:32348839|PMID:32502631|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34690748|PMID:34782754|PMID:632821|PMID:7847370 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:2476 hereditary spastic paraplegia ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195151|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20176107|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21301859|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22357363|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27422324|PMID:27538604|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29588995|PMID:29655203|PMID:29992832|PMID:30167885|PMID:30255931|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30843307|PMID:30936349|PMID:30951992|PMID:31085725|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31980526|PMID:32234506|PMID:32348839|PMID:32445240|PMID:32502631|PMID:32964447|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33671400|PMID:33726816|PMID:33791913|PMID:34008892|PMID:34690748|PMID:34782754|PMID:632821|PMID:7847370 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:2717 Bloom syndrome ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:3312 bipolar disorder ISO RGD:732180 D RGD:9068941 20220825 MouseDO 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:3324 mood disorder ISO RGD:732180 D RGD:9068941 20200609 RGD PMID:16619054|REF_RGD_ID:8694301 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:3324 mood disorder ISO RGD:732180 D RGD:9068941 20220825 MouseDO 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:3687 MELAS syndrome ISO RGD:732179 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke PMID:25741868|PMID:28492532 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:5426 primary ovarian insufficiency ISO RGD:732179 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:14635118|PMID:25741868|PMID:27987238 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:630 genetic disease ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15800909|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16929381|PMID:16940310|PMID:16943369|PMID:16957900|PMID:17088268|PMID:17280874|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17576681|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20883824|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21301859|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22084276|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22215559|PMID:22237560|PMID:22277967|PMID:22342071|PMID:22357363|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22778364|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23448099|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24099403|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25638290|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25914719|PMID:25940035|PMID:26050231|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30306720 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:630 genetic disease ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30678510|PMID:30755392|PMID:30831263|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31085725|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31613174|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31980526|PMID:32019516|PMID:32161153|PMID:32234506|PMID:32347949|PMID:32348839|PMID:32445240|PMID:32502631|PMID:32504279|PMID:32567010|PMID:32964447|PMID:33233646|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33600046|PMID:33671400|PMID:33726816|PMID:34008892|PMID:34194468|PMID:34690748|PMID:34782754|PMID:35307828|PMID:632821|PMID:7847370|PMID:9536098 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:620057 D RGD:9068941 20200609 RGD DNA:SNPs:introns: (rs1061316, rs758130) (human) PMID:28457473|REF_RGD_ID:15039387 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:SNPs:introns: (rs1061316, rs758130) (human) PMID:28457473|REF_RGD_ID:15039387 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732180 D RGD:9068941 20200609 RGD DNA:SNPs:introns: (rs1061316, rs758130) (human) PMID:28457473|REF_RGD_ID:15039387 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:700 mitochondrial metabolism disease ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: Mitochondrial disorder | ClinVar Annotator: match by term: mitochondrial disorder PMID:11431686|PMID:11555352|PMID:11571332|PMID:11897778|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14467368|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15258572|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16595552|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16940310|PMID:16957900|PMID:17088268|PMID:17310215|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17576681|PMID:17725985|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18446447|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19500334|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:2067633|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21276947|PMID:21305355|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21696159|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22470557|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23324391|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23836942|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24265579|PMID:24272679|PMID:24398692|PMID:24508722|PMID:24725338|PMID:25025039|PMID:25281868|PMID:25286830|PMID:25340760|PMID:25356970|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26554610|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27111573|PMID:27185166|PMID:2725645|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28430993|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28812649|PMID:28837072|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30306720|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30678510|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31147703|PMID:31164858|PMID:31475037|PMID:31521625|PMID:31589614|PMID:31645654|PMID:31980526|PMID:32161153|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370|PMID:9536098 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:8725 vascular dementia ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:25850945|PMID:26467025|PMID:28492532|PMID:35307828 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:890 mitochondrial encephalomyopathy ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:mutations:cds:p.N846S, p.P587L(human) PMID:12825077|REF_RGD_ID:8694177 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:9000307 Presbycusis ISO RGD:732180 D RGD:9068941 20200609 RGD PMID:21664445|REF_RGD_ID:8694161 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:9001263 Mitochondrial DNA Depletion Syndrome, MNGIE Type ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MNGIE syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:16896309|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:20837861|PMID:20843780|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22863191|PMID:22931735|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25462018|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:27119776|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:29029963|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30369941|PMID:30373890|PMID:30423451|PMID:30487145|PMID:30818899|PMID:30936349|PMID:31085725|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32042919|PMID:32234506|PMID:32445240|PMID:32567010|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:732179 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Spinocerebellar atrophy PMID:17436221|PMID:18546365|PMID:19364868|PMID:19762913|PMID:19887119|PMID:20176107|PMID:21880868|PMID:24091540|PMID:25462018|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28958595|PMID:29992832|PMID:30951992|PMID:31655921|PMID:31665838|PMID:32348839|PMID:32502631|PMID:34690748 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:9002375 Childhood Myocerebrohepatopathy Spectrum ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Childhood myocerebrohepatopathy spectrum PMID:12707443|PMID:16621917|PMID:18487244|PMID:18546365|PMID:19752458|PMID:20185557|PMID:21305355|PMID:21880868|PMID:22189570|PMID:23208208|PMID:24265579|PMID:25741868|PMID:27111573|PMID:28471437|PMID:28492532|PMID:30021052|PMID:30167885 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:9002644 Premature Aging ISO RGD:732180 D RGD:9068941 20200609 RGD PMID:15164064|REF_RGD_ID:8694320 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:9003108 CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16940310|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18195151|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:29029963|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30936349|PMID:31085725|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32042919|PMID:32234506|PMID:32445240|PMID:32567010|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:9004493 Camptocormia ISO RGD:732179 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Bent Spine Syndrome PMID:16621917|PMID:17452231|PMID:18546365|PMID:19189930|PMID:19578034|PMID:19752458|PMID:19815814|PMID:20227526|PMID:20301791|PMID:20803511|PMID:21856450|PMID:21880868|PMID:22647225|PMID:22727047|PMID:23808377|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27271921|PMID:28130605|PMID:28492532 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:9004866 Ataxia ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.A467T,p.Q497H,p.W748S(human) PMID:15824347|REF_RGD_ID:8694191 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:9005213 Dysmyelinating Leukodystrophy with Oligodontia ISO RGD:732179 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dentoleukoencephalopathy PMID:16545482|PMID:17538929|PMID:18716558|PMID:19195941|PMID:21670405|PMID:21824913|PMID:21880868|PMID:21953457|PMID:22084276|PMID:24642831|PMID:25741868|PMID:26467025|PMID:28492532 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732180 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:retina,mitochondrion: PMID:22229649|REF_RGD_ID:8694187 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:9005815 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic PMID:12210792|PMID:12872260|PMID:15349879|PMID:15689359|PMID:15929042|PMID:16177225|PMID:17426723|PMID:17980715|PMID:18500570|PMID:18828154|PMID:19307547|PMID:19478085|PMID:20301791|PMID:20513108|PMID:20818383|PMID:21228000|PMID:21670405|PMID:21880868|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22616202|PMID:23448099|PMID:24272679|PMID:25585994|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34782754 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:9006476 Spinocerebellar Ataxia with Epilepsy ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia with epilepsy PMID:11431686|PMID:11571332|PMID:12565911|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15477547|PMID:15689359|PMID:1582434|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:16896309|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17894835|PMID:18294203|PMID:18321754|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19251978|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20301791|PMID:20438629|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:21235791|PMID:21236670|PMID:21276947|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23430834|PMID:23448099|PMID:23783014|PMID:23808377|PMID:24033266|PMID:24122062|PMID:24272679|PMID:24725338|PMID:25025039|PMID:25065347|PMID:25286830|PMID:25497598|PMID:25585994|PMID:25713120|PMID:25741868|PMID:26077851|PMID:26104464|PMID:26169155|PMID:26467025|PMID:26607151|PMID:26735972|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27290639|PMID:27422324|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28130605|PMID:28206745|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28812649|PMID:28837072|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30306720|PMID:30369941|PMID:30423451|PMID:30843307|PMID:30860128|PMID:31164858|PMID:31475037|PMID:31589614|PMID:31980526|PMID:33469851|PMID:33473333|PMID:33726816|PMID:34782754|PMID:632821 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:9006534 Nervous System Malformations ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15689359|PMID:16401742|PMID:16621917|PMID:17418573|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:19752458|PMID:20185557|PMID:20385918|PMID:20513108|PMID:21138766|PMID:21305355|PMID:21880868|PMID:22189570|PMID:22616202|PMID:23208208|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24122062|PMID:24265579|PMID:24508722|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27111573|PMID:27538604|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:30021052|PMID:30167885|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30936349|PMID:31645654|PMID:33396418|PMID:34008892|PMID:7847370 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:9007096 Stroke ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stroke PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15689359|PMID:16401742|PMID:16621917|PMID:17418573|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:20385918|PMID:20513108|PMID:21138766|PMID:21880868|PMID:22616202|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24122062|PMID:24265579|PMID:24508722|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27538604|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30936349|PMID:31645654|PMID:33396418|PMID:34008892|PMID:7847370 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18208989|PMID:20138553 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury no_association ISO RGD:620057 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.Q1236H, p.E1143G (33708G>T, 3428A>G) (human) PMID:30255931|REF_RGD_ID:15039297 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury no_association ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.Q1236H, p.E1143G (33708G>T, 3428A>G) (human) PMID:30255931|REF_RGD_ID:15039297 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury no_association ISO RGD:732180 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.Q1236H, p.E1143G (33708G>T, 3428A>G) (human) PMID:30255931|REF_RGD_ID:15039297 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:620057 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W748S, p.E1143G (2243G>C, 3428A>G) (human) PMID:25065347|REF_RGD_ID:15039302 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W748S, p.E1143G (2243G>C, 3428A>G) (human) PMID:25065347|REF_RGD_ID:15039302 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:732180 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W748S, p.E1143G (2243G>C, 3428A>G) (human) PMID:25065347|REF_RGD_ID:15039302 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:9008086 Developmental Disabilities ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15689359|PMID:16401742|PMID:16621917|PMID:17418573|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:20385918|PMID:20513108|PMID:21138766|PMID:21880868|PMID:22616202|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24122062|PMID:24265579|PMID:24508722|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27538604|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30936349|PMID:31645654|PMID:32019516|PMID:33396418|PMID:34008892|PMID:7847370 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:9008631 progressive myoclonus epilepsy 5 ISO RGD:732179 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5 PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16940310|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19344718|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:29029963|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31085725|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32042919|PMID:32234506|PMID:32445240|PMID:32567010|PMID:33233646|PMID:33396418|PMID:33434755|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33600046|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:9009021 Plagiocephaly ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plagiocephaly PMID:21550804|PMID:21880868|PMID:25741868|PMID:28492532|PMID:30755392 11941603 POLG DNA polymerase gamma, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11941603 Polg DNA polymerase gamma, catalytic subunit gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620057 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:retina,mitochondrion: PMID:22743328|REF_RGD_ID:8694093 11941643 ARMC8 armadillo repeat containing 8 gene DOID:630 genetic disease ISO RGD:1601876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941669 PPP1CC protein phosphatase 1 catalytic subunit gamma gene DOID:6000 congestive heart failure ISO RGD:3377 D RGD:9068941 20200609 RGD protein:increased expression:heart, membrane PMID:26668322|REF_RGD_ID:11526267 11941669 PPP1CC protein phosphatase 1 catalytic subunit gamma gene DOID:630 genetic disease ISO RGD:734001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941669 PPP1CC protein phosphatase 1 catalytic subunit gamma gene DOID:9000039 Spinal Cord Injuries ISO RGD:3377 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord, astrocyte, microglial cell PMID:29033188|REF_RGD_ID:13514047 11941669 PPP1CC protein phosphatase 1 catalytic subunit gamma gene DOID:9002762 Ovarian Neoplasms ISO RGD:734001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21397856 11941688 STARD5 StAR related lipid transfer domain containing 5 gene DOID:2717 Bloom syndrome ISO RGD:1317618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11941688 STARD5 StAR related lipid transfer domain containing 5 gene DOID:630 genetic disease ISO RGD:1317618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941688 STARD5 StAR related lipid transfer domain containing 5 gene DOID:9256 colorectal cancer ISO RGD:1317618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11941703 TNFSF8 TNF superfamily member 8 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9058727 11941703 TNFSF8 TNF superfamily member 8 gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9058727 11941703 TNFSF8 TNF superfamily member 8 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9058727 11941703 TNFSF8 TNF superfamily member 8 gene DOID:0081042 T-cell prolymphocytic leukemia ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9058727 11941703 TNFSF8 TNF superfamily member 8 gene DOID:0081267 graft-versus-host disease ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15322151 11941703 TNFSF8 TNF superfamily member 8 gene DOID:0110581 autosomal dominant nonsyndromic deafness 56 ISO RGD:1351958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 56 PMID:21681106|PMID:23936043 11941703 TNFSF8 TNF superfamily member 8 gene DOID:1024 leprosy ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25320285 11941703 TNFSF8 TNF superfamily member 8 gene DOID:10247 pleurisy ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15380531 11941703 TNFSF8 TNF superfamily member 8 gene DOID:11573 listeriosis ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16177108|PMID:21699557 11941703 TNFSF8 TNF superfamily member 8 gene DOID:12361 Graves' disease ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 11941703 TNFSF8 TNF superfamily member 8 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 11941703 TNFSF8 TNF superfamily member 8 gene DOID:1911 endodermal sinus tumor ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9111512 11941703 TNFSF8 TNF superfamily member 8 gene DOID:285 hairy cell leukemia ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9058727 11941703 TNFSF8 TNF superfamily member 8 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29984229 11941703 TNFSF8 TNF superfamily member 8 gene DOID:3308 embryonal carcinoma ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9111512 11941703 TNFSF8 TNF superfamily member 8 gene DOID:399 tuberculosis ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30202016 11941703 TNFSF8 TNF superfamily member 8 gene DOID:630 genetic disease ISO RGD:1351958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941703 TNFSF8 TNF superfamily member 8 gene DOID:707 B-cell lymphoma ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9058727 11941703 TNFSF8 TNF superfamily member 8 gene DOID:820 myocarditis ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11745696|PMID:12031769 11941703 TNFSF8 TNF superfamily member 8 gene DOID:8567 Hodgkin's lymphoma ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10908157|PMID:11552987|PMID:12358914|PMID:7621881|PMID:8656679|PMID:8701986|PMID:8896393|PMID:9058727 11941703 TNFSF8 TNF superfamily member 8 gene DOID:9000220 Coxsackievirus Infections ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11745696 11941703 TNFSF8 TNF superfamily member 8 gene DOID:9000918 Disease Progression ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11552987 11941703 TNFSF8 TNF superfamily member 8 gene DOID:9001274 Diabetes Mellitus, Congenital Autoimmune ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12930356 11941703 TNFSF8 TNF superfamily member 8 gene DOID:9001415 Mycobacterium Infections ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15316035|PMID:18941223 11941703 TNFSF8 TNF superfamily member 8 gene DOID:9002137 Infectious Ectromelia ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12235215 11941703 TNFSF8 TNF superfamily member 8 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9058727 11941703 TNFSF8 TNF superfamily member 8 gene DOID:9002689 Spontaneous Neoplasm Regression ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11594583 11941703 TNFSF8 TNF superfamily member 8 gene DOID:9003867 Lymphomatoid Papulosis ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11594583 11941703 TNFSF8 TNF superfamily member 8 gene DOID:9005968 Neuralgia ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31432094 11941703 TNFSF8 TNF superfamily member 8 gene DOID:9007355 Hashimoto Disease ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 11941703 TNFSF8 TNF superfamily member 8 gene DOID:9007702 Carcinogenesis ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11552987 11941703 TNFSF8 TNF superfamily member 8 gene DOID:9119 acute myeloid leukemia ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10512160|PMID:11918534|PMID:9058727 11941703 TNFSF8 TNF superfamily member 8 gene DOID:934 viral infectious disease ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 11941703 TNFSF8 TNF superfamily member 8 gene DOID:9538 multiple myeloma ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9058727 11941703 TNFSF8 TNF superfamily member 8 gene DOID:999 hypereosinophilic syndrome ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8896393 11941715 FABP4 fatty acid binding protein 4 gene DOID:1875 impotence ISO RGD:69309 D RGD:9068941 20200609 RGD associated with hypercholesterolemia;mRNA:increased expression:penis erectile tissue PMID:17137605|REF_RGD_ID:1625408 11941715 FABP4 fatty acid binding protein 4 gene DOID:2773 contact dermatitis ISO RGD:733453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11941715 FABP4 fatty acid binding protein 4 gene DOID:305 carcinoma ISO RGD:733453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11941715 FABP4 fatty acid binding protein 4 gene DOID:557 kidney disease ISO RGD:733453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30215792 11941715 FABP4 fatty acid binding protein 4 gene DOID:630 genetic disease ISO RGD:733453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941715 FABP4 fatty acid binding protein 4 gene DOID:767 muscular atrophy ISO RGD:69309 D RGD:9068941 20220224 RGD associated with microgravity; mRNA:increased expression:gastrocnemius (rat) PMID:14638460|REF_RGD_ID:151361116 11941715 FABP4 fatty acid binding protein 4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11941715 FABP4 fatty acid binding protein 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11941715 FABP4 fatty acid binding protein 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69309 D RGD:9068941 20200609 RGD protein:decreased expresssion:fat cell PMID:9059981|REF_RGD_ID:1625411 11941715 FABP4 fatty acid binding protein 4 gene DOID:9006646 Metabolic Syndrome ISO RGD:733453 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16919044|REF_RGD_ID:1625406 11941715 FABP4 fatty acid binding protein 4 gene DOID:9007692 Insulin Resistance ISO RGD:69309 D RGD:9068941 20200609 RGD PMID:17391165|REF_RGD_ID:1625407 11941715 FABP4 fatty acid binding protein 4 gene DOID:9970 obesity ISO RGD:733454 D RGD:9068941 20200609 RGD PMID:8910278|REF_RGD_ID:737747 11941724 MTX3 metaxin 3 gene DOID:630 genetic disease ISO RGD:1601695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941724 MTX3 metaxin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11941749 ERICH1 glutamate rich 1 gene DOID:630 genetic disease ISO RGD:1602977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941759 TTC39B tetratricopeptide repeat domain 39B gene DOID:630 genetic disease ISO RGD:1314048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941801 ISLR immunoglobulin superfamily containing leucine rich repeat gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602010 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11941801 ISLR immunoglobulin superfamily containing leucine rich repeat gene DOID:2717 Bloom syndrome ISO RGD:1602010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11941801 ISLR immunoglobulin superfamily containing leucine rich repeat gene DOID:5419 schizophrenia ISO RGD:1602010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11941801 ISLR immunoglobulin superfamily containing leucine rich repeat gene DOID:630 genetic disease ISO RGD:1602010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941801 ISLR immunoglobulin superfamily containing leucine rich repeat gene DOID:9256 colorectal cancer ISO RGD:1602010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11941810 RIC1 RIC1 homolog, RAB6A GEF complex partner 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1320674 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 11941810 RIC1 RIC1 homolog, RAB6A GEF complex partner 1 gene DOID:1826 epilepsy ISO RGD:1320674 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11941810 RIC1 RIC1 homolog, RAB6A GEF complex partner 1 gene DOID:630 genetic disease ISO RGD:1320674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941810 RIC1 RIC1 homolog, RAB6A GEF complex partner 1 gene DOID:9005601 CATIFA Syndrome ISO RGD:1320674 D RGD:7240710 20200226 OMIM 11941810 RIC1 RIC1 homolog, RAB6A GEF complex partner 1 gene DOID:9005601 CATIFA Syndrome ISO RGD:1320674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catifa syndrome PMID:25741868|PMID:27878435|PMID:31932796 11941850 G6PC2 glucose-6-phosphatase catalytic subunit 2 gene DOID:630 genetic disease ISO RGD:1344189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941850 G6PC2 glucose-6-phosphatase catalytic subunit 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:69438 D RGD:9068941 20220825 MouseDO OMIM:222100 11941861 LOC100984626 ATP-dependent RNA helicase DDX19B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1346558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11941861 LOC100984626 ATP-dependent RNA helicase DDX19B gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1346558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11941861 LOC100984626 ATP-dependent RNA helicase DDX19B gene DOID:630 genetic disease ISO RGD:1346558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941891 GALNT1 polypeptide N-acetylgalactosaminyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:736264 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11941891 GALNT1 polypeptide N-acetylgalactosaminyltransferase 1 gene DOID:4079 heart valve disease ISO RGD:733502 D RGD:9068941 20220825 MouseDO 11941891 GALNT1 polypeptide N-acetylgalactosaminyltransferase 1 gene DOID:630 genetic disease ISO RGD:736264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941906 KPNA3 karyopherin subunit alpha 3 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1322742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11941906 KPNA3 karyopherin subunit alpha 3 gene DOID:1059 intellectual disability ISO RGD:1322742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11941906 KPNA3 karyopherin subunit alpha 3 gene DOID:630 genetic disease ISO RGD:1322742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941906 KPNA3 karyopherin subunit alpha 3 gene DOID:9008849 Spastic Paraplegia 88, Autosomal Dominant ISO RGD:1322742 D RGD:7240710 20221123 OMIM 11941906 KPNA3 karyopherin subunit alpha 3 gene DOID:9008849 Spastic Paraplegia 88, Autosomal Dominant ISO RGD:1322742 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 88, autosomal dominant PMID:34564892|PMID:34825409|PMID:34981581 11941927 NUPR2 nuclear protein 2, transcriptional regulator gene DOID:12849 autistic disorder ISO RGD:6770124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11941927 NUPR2 nuclear protein 2, transcriptional regulator gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:6770124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11941927 NUPR2 nuclear protein 2, transcriptional regulator gene DOID:630 genetic disease ISO RGD:6770124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941933 SPOCK2 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 2 gene DOID:0111330 combined saposin deficiency ISO RGD:1318416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency PMID:28492532 11941933 SPOCK2 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 2 gene DOID:630 genetic disease ISO RGD:1318416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941952 EHD4 EH domain containing 4 gene DOID:2717 Bloom syndrome ISO RGD:734140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11941952 EHD4 EH domain containing 4 gene DOID:630 genetic disease ISO RGD:734140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941952 EHD4 EH domain containing 4 gene DOID:9256 colorectal cancer ISO RGD:734140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11941962 TRMT1L tRNA methyltransferase 1 like gene DOID:11372 megacolon ISO RGD:1317348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11941962 TRMT1L tRNA methyltransferase 1 like gene DOID:1540 parathyroid carcinoma ISO RGD:1317348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11941962 TRMT1L tRNA methyltransferase 1 like gene DOID:630 genetic disease ISO RGD:1317348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941962 TRMT1L tRNA methyltransferase 1 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11941981 ELP6 elongator acetyltransferase complex subunit 6 gene DOID:630 genetic disease ISO RGD:1606547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11941981 ELP6 elongator acetyltransferase complex subunit 6 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1606547 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11942000 MMP14 matrix metallopeptidase 14 gene DOID:0060439 lysinuric protein intolerance ISO RGD:734118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11942000 MMP14 matrix metallopeptidase 14 gene DOID:0080696 Winchester syndrome ISO RGD:734118 D RGD:7240710 20180130 OMIM 11942000 MMP14 matrix metallopeptidase 14 gene DOID:0080696 Winchester syndrome ISO RGD:734118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Winchester syndrome PMID:22922033|PMID:25741868|PMID:4238825 11942000 MMP14 matrix metallopeptidase 14 gene DOID:10941 intracranial aneurysm ISO RGD:734118 D RGD:9068941 20200609 RGD PMID:9724118|REF_RGD_ID:1582590 11942000 MMP14 matrix metallopeptidase 14 gene DOID:11713 diabetic angiopathy ISO RGD:734118 D RGD:9068941 20200609 RGD PMID:12477149|REF_RGD_ID:1582581 11942000 MMP14 matrix metallopeptidase 14 gene DOID:12930 dilated cardiomyopathy ISO RGD:734118 D RGD:9068941 20200609 RGD PMID:11034943|REF_RGD_ID:1582586 11942000 MMP14 matrix metallopeptidase 14 gene DOID:12930 dilated cardiomyopathy ISO RGD:734119 D RGD:9068941 20200609 RGD PMID:16037568|REF_RGD_ID:1582576 11942000 MMP14 matrix metallopeptidase 14 gene DOID:13001 carotid stenosis ISO RGD:734119 D RGD:9068941 20200609 RGD PMID:16147977|REF_RGD_ID:1582575 11942000 MMP14 matrix metallopeptidase 14 gene DOID:14004 thoracic aortic aneurysm ISO RGD:734118 D RGD:9068941 20200609 RGD protein:decreased expression:aorta (human) PMID:16820601|REF_RGD_ID:1582351 11942000 MMP14 matrix metallopeptidase 14 gene DOID:14323 Marfan syndrome ISO RGD:734118 D RGD:9068941 20200609 RGD associated with thoracic aortic aneurysm;protein:increased expression:aorta (human) PMID:16820601|REF_RGD_ID:1582351 11942000 MMP14 matrix metallopeptidase 14 gene DOID:2316 brain ischemia ISO RGD:620198 D RGD:9068941 20200609 RGD PMID:15963646|REF_RGD_ID:1582577 11942000 MMP14 matrix metallopeptidase 14 gene DOID:2349 arteriosclerosis ISO RGD:620198 D RGD:9068941 20200609 RGD PMID:12526080|REF_RGD_ID:1582580 11942000 MMP14 matrix metallopeptidase 14 gene DOID:2349 arteriosclerosis ISO RGD:734118 D RGD:9068941 20200609 RGD PMID:10731924|PMID:12526080|REF_RGD_ID:1582580|REF_RGD_ID:1582588 11942000 MMP14 matrix metallopeptidase 14 gene DOID:2349 arteriosclerosis ISO RGD:734119 D RGD:9068941 20200609 RGD PMID:12526080|REF_RGD_ID:1582580 11942000 MMP14 matrix metallopeptidase 14 gene DOID:2671 transitional cell carcinoma ISO RGD:734118 D RGD:9068941 20200609 RGD PMID:9751409|REF_RGD_ID:2314950 11942000 MMP14 matrix metallopeptidase 14 gene DOID:2986 IgA glomerulonephritis ISO RGD:620198 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:9848780|REF_RGD_ID:2314955 11942000 MMP14 matrix metallopeptidase 14 gene DOID:299 adenocarcinoma ISO RGD:734118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 11942000 MMP14 matrix metallopeptidase 14 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:734118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19661247 11942000 MMP14 matrix metallopeptidase 14 gene DOID:326 ischemia ISO RGD:620198 D RGD:9068941 20200609 RGD PMID:16077081|REF_RGD_ID:1582563 11942000 MMP14 matrix metallopeptidase 14 gene DOID:3459 breast carcinoma disease_progression ISO RGD:734118 D RGD:9068941 20200609 RGD PMID:9158005|REF_RGD_ID:2314951 11942000 MMP14 matrix metallopeptidase 14 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:734118 D RGD:9068941 20220526 RGD protein:increased expression: esophagus PMID:24789592|REF_RGD_ID:152600903 11942000 MMP14 matrix metallopeptidase 14 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:620198 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney, macrophage PMID:10878552|REF_RGD_ID:2314954 11942000 MMP14 matrix metallopeptidase 14 gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:734118 D RGD:9068941 20210521 RGD DNA:SNP:5'utr: (rs2236302) (human) PMID:21472143|REF_RGD_ID:126925218 11942000 MMP14 matrix metallopeptidase 14 gene DOID:5844 myocardial infarction ISO RGD:620198 D RGD:9068941 20200609 RGD PMID:10773235|REF_RGD_ID:1582587 11942000 MMP14 matrix metallopeptidase 14 gene DOID:5844 myocardial infarction ISO RGD:734118 D RGD:9068941 20200609 RGD PMID:16461815|REF_RGD_ID:1582569 11942000 MMP14 matrix metallopeptidase 14 gene DOID:6000 congestive heart failure disease_progression ISO RGD:620198 D RGD:9068941 20200609 RGD protein:increased expression:left ventricle (rat) PMID:10773235|REF_RGD_ID:1582587 11942000 MMP14 matrix metallopeptidase 14 gene DOID:630 genetic disease ISO RGD:734118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11942000 MMP14 matrix metallopeptidase 14 gene DOID:684 hepatocellular carcinoma ISO RGD:734118 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 11942000 MMP14 matrix metallopeptidase 14 gene DOID:7148 rheumatoid arthritis ISO RGD:734119 D RGD:9068941 20220825 MouseDO OMIM:180300 11942000 MMP14 matrix metallopeptidase 14 gene DOID:7693 abdominal aortic aneurysm ISO RGD:620198 D RGD:9068941 20200609 RGD PMID:15300177|REF_RGD_ID:1582579 11942000 MMP14 matrix metallopeptidase 14 gene DOID:7693 abdominal aortic aneurysm ISO RGD:734118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19010778 11942000 MMP14 matrix metallopeptidase 14 gene DOID:7693 abdominal aortic aneurysm ISO RGD:734118 D RGD:9068941 20200609 RGD PMID:11877705|REF_RGD_ID:1582584 11942000 MMP14 matrix metallopeptidase 14 gene DOID:9000117 Esophageal Neoplasms ISO RGD:734118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 11942000 MMP14 matrix metallopeptidase 14 gene DOID:9000265 Specific Granule Deficiency ISO RGD:734118 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11942000 MMP14 matrix metallopeptidase 14 gene DOID:9002522 Embolism ISO RGD:734118 D RGD:9068941 20200609 RGD PMID:15920147|REF_RGD_ID:1582578 11942000 MMP14 matrix metallopeptidase 14 gene DOID:9003871 Venous Thrombosis ISO RGD:734119 D RGD:9068941 20200609 RGD PMID:16171603|REF_RGD_ID:1582570 11942000 MMP14 matrix metallopeptidase 14 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:734118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 11942000 MMP14 matrix metallopeptidase 14 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:734118 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11942000 MMP14 matrix metallopeptidase 14 gene DOID:9005175 Ulcer ISO RGD:734118 D RGD:9068941 20200609 RGD PMID:12452868|REF_RGD_ID:1582583 11942000 MMP14 matrix metallopeptidase 14 gene DOID:9005539 Familial Prostate Cancer ISO RGD:734118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11942000 MMP14 matrix metallopeptidase 14 gene DOID:9007188 Liver Neoplasms ISO RGD:734118 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 11942000 MMP14 matrix metallopeptidase 14 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:734118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23804419 11942000 MMP14 matrix metallopeptidase 14 gene DOID:9008527 Chlamydophila Infections ISO RGD:620198 D RGD:9068941 20200609 RGD PMID:12526080|REF_RGD_ID:1582580 11942000 MMP14 matrix metallopeptidase 14 gene DOID:9008527 Chlamydophila Infections ISO RGD:734118 D RGD:9068941 20200609 RGD PMID:12526080|REF_RGD_ID:1582580 11942000 MMP14 matrix metallopeptidase 14 gene DOID:9008527 Chlamydophila Infections ISO RGD:734119 D RGD:9068941 20200609 RGD PMID:12526080|REF_RGD_ID:1582580 11942000 MMP14 matrix metallopeptidase 14 gene DOID:9008939 Breast Neoplasms ISO RGD:734118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 11942019 PSTK phosphoseryl-tRNA kinase gene DOID:2340 craniosynostosis ISO RGD:1350761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 11942019 PSTK phosphoseryl-tRNA kinase gene DOID:630 genetic disease ISO RGD:1350761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11942046 FAM149B1 family with sequence similarity 149 member B1 gene DOID:0050777 Joubert syndrome ISO RGD:1351219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:30905400 11942046 FAM149B1 family with sequence similarity 149 member B1 gene DOID:630 genetic disease ISO RGD:1351219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11942046 FAM149B1 family with sequence similarity 149 member B1 gene DOID:9009141 Joubert Syndrome 36 ISO RGD:1351219 D RGD:7240710 20200226 OMIM 11942046 FAM149B1 family with sequence similarity 149 member B1 gene DOID:9009141 Joubert Syndrome 36 ISO RGD:1351219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 36 PMID:30905400 11942089 RASGEF1A RasGEF domain family member 1A gene DOID:630 genetic disease ISO RGD:1314108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11942113 ICOSLG inducible T cell costimulator ligand gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1354040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 11942113 ICOSLG inducible T cell costimulator ligand gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1354040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11942113 ICOSLG inducible T cell costimulator ligand gene DOID:0110266 cataract 9 multiple types ISO RGD:1354040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11942113 ICOSLG inducible T cell costimulator ligand gene DOID:0111962 combined immunodeficiency ISO RGD:1354040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:25741868|PMID:30498080 11942113 ICOSLG inducible T cell costimulator ligand gene DOID:10608 celiac disease ISO RGD:1354040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 11942113 ICOSLG inducible T cell costimulator ligand gene DOID:12849 autistic disorder ISO RGD:1354040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11942113 ICOSLG inducible T cell costimulator ligand gene DOID:630 genetic disease ISO RGD:1354040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11942113 ICOSLG inducible T cell costimulator ligand gene DOID:8577 ulcerative colitis ISO RGD:1354040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 11942113 ICOSLG inducible T cell costimulator ligand gene DOID:891 progressive myoclonus epilepsy ISO RGD:1354040 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11942113 ICOSLG inducible T cell costimulator ligand gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11942113 ICOSLG inducible T cell costimulator ligand gene DOID:9263 homocystinuria ISO RGD:1354040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11942113 ICOSLG inducible T cell costimulator ligand gene DOID:9562 primary ciliary dyskinesia ISO RGD:1354040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11942133 ZFP69 ZFP69 zinc finger protein gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1343701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11942133 ZFP69 ZFP69 zinc finger protein gene DOID:630 genetic disease ISO RGD:1343701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11942171 VAX1 ventral anterior homeobox 1 gene DOID:0111804 syndromic microphthalmia 11 ISO RGD:1351722 D RGD:7240710 20180130 OMIM 11942171 VAX1 ventral anterior homeobox 1 gene DOID:0111804 syndromic microphthalmia 11 ISO RGD:1351722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia, syndromic 11 PMID:22095910|PMID:28492532 11942171 VAX1 ventral anterior homeobox 1 gene DOID:10629 microphthalmia ISO RGD:1351722 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Microphthalmia PMID:25741868 11942171 VAX1 ventral anterior homeobox 1 gene DOID:630 genetic disease ISO RGD:1351722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11942179 LGI2 leucine rich repeat LGI family member 2 gene DOID:1826 epilepsy ISO RGD:12056737 D RGD:9068941 20230511 OMIA Epilepsy, benign familial juvenile PMID:17552452|PMID:21829378|PMID:23683021|PMID:24070682|PMID:25945683|PMID:26931499 11942179 LGI2 leucine rich repeat LGI family member 2 gene DOID:630 genetic disease ISO RGD:1321270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11942191 SLC16A7 solute carrier family 16 member 7 gene DOID:630 genetic disease ISO RGD:1346247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11942191 SLC16A7 solute carrier family 16 member 7 gene DOID:9970 obesity ISO RGD:1346247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 11942219 NPLOC4 NPL4 homolog, ubiquitin recognition factor gene DOID:630 genetic disease ISO RGD:735438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11942245 ADAM22 ADAM metallopeptidase domain 22 gene DOID:0080434 developmental and epileptic encephalopathy 61 ISO RGD:1352892 D RGD:7240710 20190315 OMIM 11942245 ADAM22 ADAM metallopeptidase domain 22 gene DOID:0080434 developmental and epileptic encephalopathy 61 ISO RGD:1352892 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 61 PMID:25741868|PMID:27066583|PMID:28492532|PMID:30237576 11942245 ADAM22 ADAM metallopeptidase domain 22 gene DOID:1826 epilepsy ISO RGD:1352892 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11942245 ADAM22 ADAM metallopeptidase domain 22 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11942245 ADAM22 ADAM metallopeptidase domain 22 gene DOID:630 genetic disease ISO RGD:1352892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11942245 ADAM22 ADAM metallopeptidase domain 22 gene DOID:9000271 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation ISO RGD:1352892 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation PMID:25741868 11942305 PARD6B par-6 family cell polarity regulator beta gene DOID:0060041 autism spectrum disorder ISO RGD:1317848 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11942305 PARD6B par-6 family cell polarity regulator beta gene DOID:630 genetic disease ISO RGD:1317848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11942312 ZBTB45 zinc finger and BTB domain containing 45 gene DOID:630 genetic disease ISO RGD:1322100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11942330 TENT4B terminal nucleotidyltransferase 4B gene DOID:0111122 nephronophthisis 14 ISO RGD:1320003 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 11942330 TENT4B terminal nucleotidyltransferase 4B gene DOID:630 genetic disease ISO RGD:1320003 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11942351 SEPTIN9 septin 9 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1349459 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532|PMID:32122354 11942351 SEPTIN9 septin 9 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1349459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 11942351 SEPTIN9 septin 9 gene DOID:10383 amyotrophic neuralgia ISO RGD:1349459 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic neuralgia | ClinVar Annotator: match by term: Hereditary Neuralgic Amyotrophy (HNA) PMID:16186812|PMID:17546647|PMID:18492087|PMID:19139049|PMID:19204161|PMID:19451530|PMID:20019224|PMID:20301569|PMID:22981636|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28503616|PMID:31619932 11942351 SEPTIN9 septin 9 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1349459 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25025039|PMID:28492532 11942351 SEPTIN9 septin 9 gene DOID:3689 brachial plexus neuritis ISO RGD:1349459 D RGD:7240710 20180130 OMIM 11942351 SEPTIN9 septin 9 gene DOID:3689 brachial plexus neuritis ISO RGD:1349459 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic neuralgia | ClinVar Annotator: match by term: Hereditary Neuralgic Amyotrophy (HNA) PMID:16186812|PMID:17546647|PMID:18492087|PMID:19139049|PMID:19204161|PMID:19451530|PMID:20019224|PMID:20301569|PMID:22981636|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28503616|PMID:31619932 11942351 SEPTIN9 septin 9 gene DOID:630 genetic disease ISO RGD:1349459 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11942351 SEPTIN9 septin 9 gene DOID:9001441 Adenomatous Polyps severity ISO RGD:1349459 D RGD:9068941 20220825 RGD DNA:altered methylation:plasma: PMID:20140221|REF_RGD_ID:153344541 11942351 SEPTIN9 septin 9 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1349459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20388789 11942351 SEPTIN9 septin 9 gene DOID:9119 acute myeloid leukemia ISO RGD:1349459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10339604 11942351 SEPTIN9 septin 9 gene DOID:9240 erythromelalgia ISO RGD:1349459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sodium channelopathy-related small fiber neuropathy 11942351 SEPTIN9 septin 9 gene DOID:9256 colorectal cancer ISO RGD:1349459 D RGD:9068941 20220825 RGD DNA:hypermethylation:urine: PMID:33504902|REF_RGD_ID:153344542 11942394 MIA MIA SH3 domain containing gene DOID:1339 Diamond-Blackfan anemia ISO RGD:732144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11942394 MIA MIA SH3 domain containing gene DOID:1342 congenital hypoplastic anemia ISO RGD:732144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11942394 MIA MIA SH3 domain containing gene DOID:2340 craniosynostosis ISO RGD:732144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11942394 MIA MIA SH3 domain containing gene DOID:630 genetic disease ISO RGD:732144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11942394 MIA MIA SH3 domain containing gene DOID:9000217 Stomach Neoplasms ISO RGD:732144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11942394 MIA MIA SH3 domain containing gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:732144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11942394 MIA MIA SH3 domain containing gene DOID:9003049 Femur Head Necrosis ISO RGD:620883 D RGD:9068941 20200609 RGD mRNA:increased expression:head of femur PMID:20579363|REF_RGD_ID:10046018 11942394 MIA MIA SH3 domain containing gene DOID:9269 maple syrup urine disease ISO RGD:732144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11942408 ZNF721 zinc finger protein 721 gene DOID:1856 cherubism ISO RGD:1602425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11942408 ZNF721 zinc finger protein 721 gene DOID:630 genetic disease ISO RGD:1602425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11942408 ZNF721 zinc finger protein 721 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1602425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 53 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251 11942423 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:0014667 disease of metabolism ISO RGD:730973 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:10600799|REF_RGD_ID:1581420 11942423 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:730972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11942423 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:730972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 11942423 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:10211 cholelithiasis ISO RGD:730973 D RGD:9068941 20200609 RGD PMID:15062879|REF_RGD_ID:1581417 11942423 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:10283 prostate cancer ISO RGD:730972 D RGD:9068941 20200609 RGD PMID:15026365|REF_RGD_ID:1581413 11942423 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:730972 D RGD:9068941 20200609 RGD PMID:15026365|REF_RGD_ID:1581413 11942423 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:1115 sarcoma treatment ISO RGD:730972 D RGD:9068941 20220303 RGD PMID:31089155|REF_RGD_ID:151660332 11942423 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:11832 visual epilepsy ISO RGD:1307751 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brain PMID:19124072|REF_RGD_ID:2308818 11942423 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:2527 nephrosis ISO RGD:1307751 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:19147991|REF_RGD_ID:2307223 11942423 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:3407 carotid artery disease ISO RGD:730972 D RGD:9068941 20200609 RGD PMID:12801623|REF_RGD_ID:1581414 11942423 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:557 kidney disease ISO RGD:1307751 D RGD:9068941 20200609 RGD protein:altered localization:kidney PMID:15944339|REF_RGD_ID:1625196 11942423 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:630 genetic disease ISO RGD:730972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11942423 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:730972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 11942423 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:783 end stage renal disease ISO RGD:1307751 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:16814791|REF_RGD_ID:2308825 11942423 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:783 end stage renal disease ISO RGD:730972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 11942423 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:8725 vascular dementia ISO RGD:730972 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :24489C>T, 34995G>T, 68891C>T (human) PMID:16082694|REF_RGD_ID:1581412 11942423 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:730972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11942423 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:9000808 Hypercholesterolemia ISO RGD:1307751 D RGD:9068941 20200609 RGD protein:altered localization:liver PMID:16741953|REF_RGD_ID:1581819 11942423 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:9000808 Hypercholesterolemia ISO RGD:730972 D RGD:9068941 20200609 RGD PMID:18095312|REF_RGD_ID:2308813 11942423 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:9000808 Hypercholesterolemia ISO RGD:730972 D RGD:9068941 20200609 RGD DNA:mutations:exon:p.V623M, p.R645Q (human) PMID:11950857|REF_RGD_ID:1625197 11942423 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:9000808 Hypercholesterolemia ISO RGD:730972 D RGD:9068941 20200609 RGD DNA:polymorphism: :1784G>C (human) PMID:15547298|REF_RGD_ID:1581415 11942423 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:9000918 Disease Progression ISO RGD:730972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11942423 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30394316 11942423 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:730973 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:kidney PMID:16936198|REF_RGD_ID:2308815 11942423 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:9007692 Insulin Resistance ISO RGD:730972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20699619 11942423 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30394316 11942423 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730972 D RGD:9068941 20200609 RGD PMID:15644403|REF_RGD_ID:1581419 11942423 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:9455 lipid storage disease ISO RGD:1307751 D RGD:9068941 20200609 RGD PMID:17524234|REF_RGD_ID:2308821 11942423 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730972 D RGD:9068941 20200609 RGD PMID:18682608|REF_RGD_ID:2308812 11942423 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:9970 obesity ISO RGD:1307751 D RGD:9068941 20200609 RGD protein:increased expression:fat cell, nucleus PMID:9786926|REF_RGD_ID:2308843 11942423 Srebf2 sterol regulatory element binding factor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:730973 D RGD:9068941 20200609 RGD PMID:16046298|REF_RGD_ID:1581418 11942450 C1GALT1C1L C1GALT1 specific chaperone 1 like gene DOID:630 genetic disease ISO RGD:9999358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11942494 MS4A3 membrane spanning 4-domains A3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1321597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11942494 MS4A3 membrane spanning 4-domains A3 gene DOID:1059 intellectual disability ISO RGD:1321597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11942494 MS4A3 membrane spanning 4-domains A3 gene DOID:630 genetic disease ISO RGD:1321597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11942523 NREP neuronal regeneration related protein gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1351571 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11942523 NREP neuronal regeneration related protein gene DOID:0080600 COVID-19 ISO RGD:1351571 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11942523 NREP neuronal regeneration related protein gene DOID:630 genetic disease ISO RGD:1351571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11942523 NREP neuronal regeneration related protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11942523 NREP neuronal regeneration related protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11942523 NREP neuronal regeneration related protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1351571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 11942523 NREP neuronal regeneration related protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1351571 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11942523 NREP neuronal regeneration related protein gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11942523 NREP neuronal regeneration related protein gene DOID:9452 fatty liver disease ISO RGD:1351571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11942544 FBXO30 F-box protein 30 gene DOID:630 genetic disease ISO RGD:1347238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11942551 SCAF4 SR-related CTD associated factor 4 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1317892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:25741868|PMID:28492532 11942551 SCAF4 SR-related CTD associated factor 4 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1317892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 11942551 SCAF4 SR-related CTD associated factor 4 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1317892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11942551 SCAF4 SR-related CTD associated factor 4 gene DOID:1059 intellectual disability ISO RGD:1317892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11942551 SCAF4 SR-related CTD associated factor 4 gene DOID:630 genetic disease ISO RGD:1317892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32730804 11942551 SCAF4 SR-related CTD associated factor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317892 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: SCAF4-associated Neurodevelopmental disorder PMID:25741868|PMID:32730804 11942551 SCAF4 SR-related CTD associated factor 4 gene DOID:9005988 Multicystic Dysplastic Kidney ISO RGD:1317892 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Multicystic dysplastic kidney 11942551 SCAF4 SR-related CTD associated factor 4 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1317892 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:25741868|PMID:32730804 11942581 ETNPPL ethanolamine-phosphate phospho-lyase gene DOID:630 genetic disease ISO RGD:1350227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11942604 AFMID arylformamidase gene DOID:630 genetic disease ISO RGD:1606470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11942621 RASGRF2 Ras protein specific guanine nucleotide releasing factor 2 gene DOID:305 carcinoma ISO RGD:69460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 11942621 RASGRF2 Ras protein specific guanine nucleotide releasing factor 2 gene DOID:630 genetic disease ISO RGD:69460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11942621 RASGRF2 Ras protein specific guanine nucleotide releasing factor 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:69460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 11942621 RASGRF2 Ras protein specific guanine nucleotide releasing factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11942621 RASGRF2 Ras protein specific guanine nucleotide releasing factor 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 11942656 DRC7 dynein regulatory complex subunit 7 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604275 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11942656 DRC7 dynein regulatory complex subunit 7 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604275 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11942656 DRC7 dynein regulatory complex subunit 7 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11942656 DRC7 dynein regulatory complex subunit 7 gene DOID:630 genetic disease ISO RGD:1604275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11942690 GLCE glucuronic acid epimerase gene DOID:2717 Bloom syndrome ISO RGD:1607059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11942690 GLCE glucuronic acid epimerase gene DOID:630 genetic disease ISO RGD:1607059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11942690 GLCE glucuronic acid epimerase gene DOID:9256 colorectal cancer ISO RGD:1607059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11942699 CLTCL1 clathrin heavy chain like 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1350184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11942699 CLTCL1 clathrin heavy chain like 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1350184 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 11942699 CLTCL1 clathrin heavy chain like 1 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1350184 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 11942699 CLTCL1 clathrin heavy chain like 1 gene DOID:0080600 COVID-19 ISO RGD:1350184 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11942699 CLTCL1 clathrin heavy chain like 1 gene DOID:0111996 immunodeficiency 51 ISO RGD:1350184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11942699 CLTCL1 clathrin heavy chain like 1 gene DOID:1059 intellectual disability ISO RGD:1350184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11942699 CLTCL1 clathrin heavy chain like 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1350184 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 11942699 CLTCL1 clathrin heavy chain like 1 gene DOID:11372 megacolon ISO RGD:1350184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11942699 CLTCL1 clathrin heavy chain like 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:1350184 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 11942699 CLTCL1 clathrin heavy chain like 1 gene DOID:12849 autistic disorder ISO RGD:1350184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:22511880|PMID:25741868|PMID:28492532|PMID:30208311 11942699 CLTCL1 clathrin heavy chain like 1 gene DOID:1826 epilepsy ISO RGD:1350184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11942699 CLTCL1 clathrin heavy chain like 1 gene DOID:5419 schizophrenia ISO RGD:1350184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11942699 CLTCL1 clathrin heavy chain like 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1350184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11942699 CLTCL1 clathrin heavy chain like 1 gene DOID:630 genetic disease ISO RGD:1350184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11942699 CLTCL1 clathrin heavy chain like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11942699 CLTCL1 clathrin heavy chain like 1 gene DOID:9007661 Dwarfism ISO RGD:1350184 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11942699 CLTCL1 clathrin heavy chain like 1 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1350184 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11942739 HOXA9 homeobox A9 gene DOID:0060739 hand-foot-genital syndrome ISO RGD:1320652 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hand-foot-genital syndrome 11942739 HOXA9 homeobox A9 gene DOID:11054 urinary bladder cancer ISO RGD:1320652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26332997 11942739 HOXA9 homeobox A9 gene DOID:1909 melanoma ISO RGD:1320652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 11942739 HOXA9 homeobox A9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11942739 HOXA9 homeobox A9 gene DOID:630 genetic disease ISO RGD:1320652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11942739 HOXA9 homeobox A9 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1320652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26332997 11942739 HOXA9 homeobox A9 gene DOID:9119 acute myeloid leukemia ISO RGD:1320652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22541086 11942745 TENT4A terminal nucleotidyltransferase 4A gene DOID:630 genetic disease ISO RGD:1316507 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11942769 SLC38A8 solute carrier family 38 member 8 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:2290191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 11942769 SLC38A8 solute carrier family 38 member 8 gene DOID:14791 Leber congenital amaurosis ISO RGD:2290191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:17576681|PMID:28492532|PMID:28714225|PMID:33594928|PMID:9536098 11942769 SLC38A8 solute carrier family 38 member 8 gene DOID:630 genetic disease ISO RGD:2290191 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11942769 SLC38A8 solute carrier family 38 member 8 gene DOID:9001923 Foveal Hypoplasia ISO RGD:2290191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Foveal hypoplasia PMID:24045842 11942769 SLC38A8 solute carrier family 38 member 8 gene DOID:9005126 Malonic Aciduria ISO RGD:2290191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of malonyl-CoA decarboxylase PMID:12955715|PMID:17186413|PMID:28492532 11942769 SLC38A8 solute carrier family 38 member 8 gene DOID:9005271 Foveal Hypoplasia and Anterior Segment Dysgenesis ISO RGD:2290191 D RGD:7240710 20180130 OMIM 11942769 SLC38A8 solute carrier family 38 member 8 gene DOID:9005271 Foveal Hypoplasia and Anterior Segment Dysgenesis ISO RGD:2290191 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE DECUSSATION DEFECTS AND ANTERIOR SEGMENT DYSGENESIS WITHOUT ALBINISM | ClinVar Annotator: match by term: Foveal hypoplasia 2 | ClinVar Annotator: match by term: Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis PMID:19590516|PMID:24045842|PMID:24290379|PMID:25741868|PMID:28492532|PMID:28546991|PMID:29345414|PMID:32032626|PMID:33498813 11942769 SLC38A8 solute carrier family 38 member 8 gene DOID:9562 primary ciliary dyskinesia ISO RGD:2290191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11942787 MSL2 MSL complex subunit 2 gene DOID:12849 autistic disorder ISO RGD:1343514 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 11942787 MSL2 MSL complex subunit 2 gene DOID:630 genetic disease ISO RGD:1343514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11942787 MSL2 MSL complex subunit 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1343514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 11942799 KIAA1549 KIAA1549 ortholog gene DOID:0080690 RASopathy ISO RGD:2292705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 11942799 KIAA1549 KIAA1549 ortholog gene DOID:0112143 retinitis pigmentosa 86 ISO RGD:2292705 D RGD:7240710 20191030 OMIM 11942799 KIAA1549 KIAA1549 ortholog gene DOID:0112143 retinitis pigmentosa 86 ISO RGD:2292705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 86 PMID:25741868|PMID:28492532|PMID:30120214 11942799 KIAA1549 KIAA1549 ortholog gene DOID:10584 retinitis pigmentosa ISO RGD:2292705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868 11942799 KIAA1549 KIAA1549 ortholog gene DOID:3069 malignant astrocytoma ISO RGD:2292705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23817572 11942799 KIAA1549 KIAA1549 ortholog gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2292705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11942799 KIAA1549 KIAA1549 ortholog gene DOID:630 genetic disease ISO RGD:2292705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11942824 CHCHD1 coiled-coil-helix-coiled-coil-helix domain containing 1 gene DOID:630 genetic disease ISO RGD:1316148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11942831 SLC19A2 solute carrier family 19 member 2 gene DOID:0090117 thiamine-responsive megaloblastic anemia syndrome ISO RGD:1318484 D RGD:7240710 20180130 OMIM 11942831 SLC19A2 solute carrier family 19 member 2 gene DOID:0090117 thiamine-responsive megaloblastic anemia syndrome ISO RGD:1318484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | ClinVar Annotator: match by term: Thiamine-responsive megaloblastic anemia PMID:10391221|PMID:10391222|PMID:10391223|PMID:10874303|PMID:10978358|PMID:12065289|PMID:12435857|PMID:14994241|PMID:17132746|PMID:17463047|PMID:18414213|PMID:19643445|PMID:24355766|PMID:25741868|PMID:26467025|PMID:28004468|PMID:28492532|PMID:29450569|PMID:33649974|PMID:33816400|PMID:9399900 11942831 SLC19A2 solute carrier family 19 member 2 gene DOID:13382 megaloblastic anemia ISO RGD:1318484 D RGD:9068941 20200609 RGD PMID:10391221|REF_RGD_ID:1599325 11942831 SLC19A2 solute carrier family 19 member 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1318484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11942831 SLC19A2 solute carrier family 19 member 2 gene DOID:630 genetic disease ISO RGD:1318484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11942831 SLC19A2 solute carrier family 19 member 2 gene DOID:784 chronic kidney disease ISO RGD:1308611 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver, heart (rat) PMID:21149507|REF_RGD_ID:7327184 11942831 SLC19A2 solute carrier family 19 member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318484 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11942831 SLC19A2 solute carrier family 19 member 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1318484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 11942831 SLC19A2 solute carrier family 19 member 2 gene DOID:9008681 Deafness ISO RGD:1318484 D RGD:9068941 20200609 RGD PMID:10391221|REF_RGD_ID:1599325 11942831 SLC19A2 solute carrier family 19 member 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11942831 SLC19A2 solute carrier family 19 member 2 gene DOID:9351 diabetes mellitus ISO RGD:1318484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 11942854 RBM47 RNA binding motif protein 47 gene DOID:630 genetic disease ISO RGD:1642917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11942854 RBM47 RNA binding motif protein 47 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1642917 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11942854 RBM47 RNA binding motif protein 47 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1642917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 11942906 FBXL13 F-box and leucine rich repeat protein 13 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11942906 FBXL13 F-box and leucine rich repeat protein 13 gene DOID:630 genetic disease ISO RGD:1353687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11942945 LOC100984415 pregnancy-specific beta-1-glycoprotein 11 gene DOID:5419 schizophrenia ISO RGD:1353660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11942945 LOC100984415 pregnancy-specific beta-1-glycoprotein 11 gene DOID:630 genetic disease ISO RGD:1353660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11942962 AGPS alkylglycerone phosphate synthase gene DOID:0090022 split hand-foot malformation 5 ISO RGD:732011 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11942962 AGPS alkylglycerone phosphate synthase gene DOID:0110853 rhizomelic chondrodysplasia punctata type 3 ISO RGD:732011 D RGD:7240710 20180130 OMIM 11942962 AGPS alkylglycerone phosphate synthase gene DOID:0110853 rhizomelic chondrodysplasia punctata type 3 ISO RGD:732011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 3 PMID:11152660|PMID:17576681|PMID:18414213|PMID:21990100|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7807941|PMID:9536098|PMID:9553082 11942962 AGPS alkylglycerone phosphate synthase gene DOID:2580 rhizomelic chondrodysplasia punctata ISO RGD:732011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata PMID:17576681|PMID:18414213|PMID:25741868|PMID:28492532|PMID:9536098 11942962 AGPS alkylglycerone phosphate synthase gene DOID:630 genetic disease ISO RGD:732011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11942962 AGPS alkylglycerone phosphate synthase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:620364 D RGD:9068941 20200609 RGD PMID:7407223|REF_RGD_ID:1598794 11942962 AGPS alkylglycerone phosphate synthase gene DOID:9005474 Experimental Sarcoma ISO RGD:620364 D RGD:9068941 20200609 RGD PMID:7407223|REF_RGD_ID:1598794 11942986 FNBP1L formin binding protein 1 like gene DOID:630 genetic disease ISO RGD:1346897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943017 SEMG1 semenogelin 1 gene DOID:2234 focal epilepsy ISO RGD:1349203 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11943017 SEMG1 semenogelin 1 gene DOID:630 genetic disease ISO RGD:1349203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943017 SEMG1 semenogelin 1 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1349203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11943024 RFLNA refilin A gene DOID:630 genetic disease ISO RGD:1606962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943035 SLC7A6 solute carrier family 7 member 6 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1319397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11943035 SLC7A6 solute carrier family 7 member 6 gene DOID:630 genetic disease ISO RGD:1319397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943051 COMMD6 COMM domain containing 6 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1606132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11943051 COMMD6 COMM domain containing 6 gene DOID:630 genetic disease ISO RGD:1606132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943068 EXOSC8 exosome component 8 gene DOID:0050952 spastic ataxia ISO RGD:1314633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 11943068 EXOSC8 exosome component 8 gene DOID:0112334 pontocerebellar hypoplasia type 1C ISO RGD:1314633 D RGD:7240710 20180130 OMIM 11943068 EXOSC8 exosome component 8 gene DOID:0112334 pontocerebellar hypoplasia type 1C ISO RGD:1314633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1C PMID:24989451|PMID:25741868|PMID:28492532 11943068 EXOSC8 exosome component 8 gene DOID:630 genetic disease ISO RGD:1314633 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11943086 EHBP1L1 EH domain binding protein 1 like 1 gene DOID:1059 intellectual disability ISO RGD:1342687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11943086 EHBP1L1 EH domain binding protein 1 like 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1342687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11943086 EHBP1L1 EH domain binding protein 1 like 1 gene DOID:2746 glycogen storage disease V ISO RGD:1342687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11943086 EHBP1L1 EH domain binding protein 1 like 1 gene DOID:3070 high grade glioma ISO RGD:1342687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11943086 EHBP1L1 EH domain binding protein 1 like 1 gene DOID:630 genetic disease ISO RGD:1342687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943086 EHBP1L1 EH domain binding protein 1 like 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1342687 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11943086 EHBP1L1 EH domain binding protein 1 like 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1342687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 11943086 EHBP1L1 EH domain binding protein 1 like 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1342687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 11943110 LYVE1 lymphatic vessel endothelial hyaluronan receptor 1 gene DOID:630 genetic disease ISO RGD:1322012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943110 LYVE1 lymphatic vessel endothelial hyaluronan receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1322012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11943126 AHNAK2 AHNAK nucleoprotein 2 gene DOID:0050753 cerebellar ataxia ISO RGD:1320178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmetria 11943126 AHNAK2 AHNAK nucleoprotein 2 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1320178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11943126 AHNAK2 AHNAK nucleoprotein 2 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1320178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 11943126 AHNAK2 AHNAK nucleoprotein 2 gene DOID:630 genetic disease ISO RGD:1320178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943136 SAMD15 sterile alpha motif domain containing 15 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1606691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:28492532 11943136 SAMD15 sterile alpha motif domain containing 15 gene DOID:630 genetic disease ISO RGD:1606691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943143 PLCE1 phospholipase C epsilon 1 gene DOID:0080212 polycystic kidney disease 4 ISO RGD:1606000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:17086182|PMID:25741868 11943143 PLCE1 phospholipase C epsilon 1 gene DOID:0080322 polycystic kidney disease ISO RGD:1606000 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:25741868|PMID:28492532 11943143 PLCE1 phospholipase C epsilon 1 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1606000 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:20591883|REF_RGD_ID:7257521 11943143 PLCE1 phospholipase C epsilon 1 gene DOID:0080382 nephrotic syndrome type 3 ISO RGD:1606000 D RGD:7240710 20180130 OMIM 11943143 PLCE1 phospholipase C epsilon 1 gene DOID:0080382 nephrotic syndrome type 3 ISO RGD:1606000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 3 PMID:17086182|PMID:18709391|PMID:18975016|PMID:20507940|PMID:20591883|PMID:22865593|PMID:23595123|PMID:24130771|PMID:24247120|PMID:24500309|PMID:24902943|PMID:25060053|PMID:25741868|PMID:26467025|PMID:26668027|PMID:27766458|PMID:28492532|PMID:28780565|PMID:31319225 11943143 PLCE1 phospholipase C epsilon 1 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1606000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:25741868|PMID:28492532 11943143 PLCE1 phospholipase C epsilon 1 gene DOID:0111365 benign familial hematuria ISO RGD:1606000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microscopic hematuria PMID:25741868 11943143 PLCE1 phospholipase C epsilon 1 gene DOID:1184 nephrotic syndrome ISO RGD:1606000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:28492532|PMID:29127259 11943143 PLCE1 phospholipase C epsilon 1 gene DOID:1184 nephrotic syndrome onset ISO RGD:1606000 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:17086182|REF_RGD_ID:7257519 11943143 PLCE1 phospholipase C epsilon 1 gene DOID:12206 dengue hemorrhagic fever ISO RGD:1606000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22001756 11943143 PLCE1 phospholipase C epsilon 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1606000 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:18975016|PMID:20507940|PMID:25060053|PMID:25741868|PMID:26467025|PMID:28492532 11943143 PLCE1 phospholipase C epsilon 1 gene DOID:2921 glomerulonephritis ISO RGD:1606000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glomerulonephritis PMID:25741868 11943143 PLCE1 phospholipase C epsilon 1 gene DOID:299 adenocarcinoma ISO RGD:1606000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20729852 11943143 PLCE1 phospholipase C epsilon 1 gene DOID:3717 gastric adenocarcinoma ameliorates ISO RGD:1606000 D RGD:9068941 20220415 RGD human cells in a mouse model PMID:24796667|REF_RGD_ID:151708719 11943143 PLCE1 phospholipase C epsilon 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1606000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20729852|PMID:20729853 11943143 PLCE1 phospholipase C epsilon 1 gene DOID:557 kidney disease ISO RGD:1606000 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:22865593|PMID:25741868|PMID:26467025|PMID:28492532 11943143 PLCE1 phospholipase C epsilon 1 gene DOID:576 proteinuria ISO RGD:1606000 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:25741868|PMID:28492532 11943143 PLCE1 phospholipase C epsilon 1 gene DOID:630 genetic disease ISO RGD:1606000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 11943143 PLCE1 phospholipase C epsilon 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1606000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20729852 11943143 PLCE1 phospholipase C epsilon 1 gene DOID:9008897 Diffuse Mesangial Sclerosis ISO RGD:1606000 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:18065803|REF_RGD_ID:7257520 11943178 LOC100992784 olfactory receptor 10G3 gene DOID:630 genetic disease ISO RGD:1346604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943178 LOC100992784 olfactory receptor 10G3 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1346604 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11943181 DNMBP dynamin binding protein gene DOID:0070354 cataract 48 ISO RGD:1349665 D RGD:7240710 20190605 OMIM 11943181 DNMBP dynamin binding protein gene DOID:0070354 cataract 48 ISO RGD:1349665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 48 PMID:25741868|PMID:30290152 11943181 DNMBP dynamin binding protein gene DOID:630 genetic disease ISO RGD:1349665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943208 GPAT4 glycerol-3-phosphate acyltransferase 4 gene DOID:630 genetic disease ISO RGD:1606717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943243 FAM200A family with sequence similarity 200 member A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11943243 FAM200A family with sequence similarity 200 member A gene DOID:630 genetic disease ISO RGD:1604968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943252 ZNF606 zinc finger protein 606 gene DOID:303 substance-related disorder ISO RGD:1320347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11943252 ZNF606 zinc finger protein 606 gene DOID:630 genetic disease ISO RGD:1320347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943282 SERPINA10 serpin family A member 10 gene DOID:0080054 achondrogenesis type IA ISO RGD:1353693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11943282 SERPINA10 serpin family A member 10 gene DOID:0080380 nephrotic syndrome type 5 ISO RGD:1353693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities PMID:15461625|PMID:18710385|PMID:22039093|PMID:23352160|PMID:25741868 11943282 SERPINA10 serpin family A member 10 gene DOID:0081063 DICER1 syndrome ISO RGD:1353693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 11943282 SERPINA10 serpin family A member 10 gene DOID:2452 thrombophilia ISO RGD:1353693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15461625 11943282 SERPINA10 serpin family A member 10 gene DOID:2452 thrombophilia ISO RGD:1353693 D RGD:9068941 20200609 RGD DNA:nonsense mutations, missense mutations:cds:multiple (human) PMID:15461625|REF_RGD_ID:1580104 11943282 SERPINA10 serpin family A member 10 gene DOID:630 genetic disease ISO RGD:1353693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943282 SERPINA10 serpin family A member 10 gene DOID:9003871 Venous Thrombosis ISO RGD:1353693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Venous thrombosis, susceptibility to PMID:15461625 11943294 TMEM170A transmembrane protein 170A gene DOID:0110989 Joubert syndrome 20 ISO RGD:1604539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 20 PMID:23012439|PMID:27449316|PMID:28492532 11943294 TMEM170A transmembrane protein 170A gene DOID:2565 macular corneal dystrophy ISO RGD:1604539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 11943294 TMEM170A transmembrane protein 170A gene DOID:630 genetic disease ISO RGD:1604539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943357 ZNF747 zinc finger protein 747 gene DOID:630 genetic disease ISO RGD:1602103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943376 PAGE3 PAGE family member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11943376 PAGE3 PAGE family member 3 gene DOID:12849 autistic disorder ISO RGD:1343229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11943392 ABT1 activator of basal transcription 1 gene DOID:630 genetic disease ISO RGD:1321888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943392 ABT1 activator of basal transcription 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1321888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11943392 ABT1 activator of basal transcription 1 gene DOID:9000918 Disease Progression ISO RGD:1321888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11943400 DUSP19 dual specificity phosphatase 19 gene DOID:13938 amenorrhea ISO RGD:1316661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11943400 DUSP19 dual specificity phosphatase 19 gene DOID:630 genetic disease ISO RGD:1316661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943411 CDH26 cadherin 26 gene DOID:630 genetic disease ISO RGD:1323191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943453 KLF4 KLF transcription factor 4 gene DOID:0060903 thrombosis ISO RGD:1342656 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25339356 11943453 KLF4 KLF transcription factor 4 gene DOID:0080600 COVID-19 ISO RGD:1342656 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 11943453 KLF4 KLF transcription factor 4 gene DOID:1682 congenital heart disease ISO RGD:1342656 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20439457 11943453 KLF4 KLF transcription factor 4 gene DOID:630 genetic disease ISO RGD:1342656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943453 KLF4 KLF transcription factor 4 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1342656 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11943453 KLF4 KLF transcription factor 4 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1342656 D RGD:9068941 20200609 RGD PMID:22677193|REF_RGD_ID:14402023 11943453 KLF4 KLF transcription factor 4 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1342656 D RGD:9068941 20200609 RGD PMID:22677193|REF_RGD_ID:14402023 11943453 KLF4 KLF transcription factor 4 gene DOID:9005835 Congenital Abnormalities ISO RGD:1342656 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20439457 11943453 KLF4 KLF transcription factor 4 gene DOID:9006182 Carotid Artery Injuries ameliorates ISO RGD:621445 D RGD:9068941 20220922 RGD PMID:29127880|REF_RGD_ID:155230825 11943453 KLF4 KLF transcription factor 4 gene DOID:9007102 Myocardial Ischemia ISO RGD:1342656 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11943466 CLEC4A C-type lectin domain family 4 member A gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1352867 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11943466 CLEC4A C-type lectin domain family 4 member A gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1352867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11943466 CLEC4A C-type lectin domain family 4 member A gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1352867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11943466 CLEC4A C-type lectin domain family 4 member A gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1352867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11943466 CLEC4A C-type lectin domain family 4 member A gene DOID:0111621 Temtamy syndrome ISO RGD:1352867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11943466 CLEC4A C-type lectin domain family 4 member A gene DOID:1205 allergic disease ISO RGD:1352867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23624239 11943466 CLEC4A C-type lectin domain family 4 member A gene DOID:630 genetic disease ISO RGD:1352867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943466 CLEC4A C-type lectin domain family 4 member A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11943466 CLEC4A C-type lectin domain family 4 member A gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1352867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11943479 GUCA1C guanylate cyclase activator 1C gene DOID:11372 megacolon ISO RGD:1350559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11943479 GUCA1C guanylate cyclase activator 1C gene DOID:630 genetic disease ISO RGD:1350559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943488 PKN2 protein kinase N2 gene DOID:630 genetic disease ISO RGD:1352598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943517 RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:736416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11943517 RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:0110255 cataract 5 multiple types ISO RGD:736416 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 11943517 RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:3908 lung non-small cell carcinoma ISO RGD:736416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17195088 11943517 RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:6000 congestive heart failure ISO RGD:736416 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart PMID:18056528|REF_RGD_ID:2311701 11943517 RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:630 genetic disease ISO RGD:736416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943517 RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:9000064 Cardiac Arrhythmias ISO RGD:736417 D RGD:9068941 20200609 RGD PMID:17525370|REF_RGD_ID:2311702 11943517 RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:9003936 Cardiomegaly ISO RGD:736416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18056528 11943517 RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:9003936 Cardiomegaly ISO RGD:736417 D RGD:9068941 20200609 RGD PMID:18056528|REF_RGD_ID:2311701 11943517 RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:9007692 Insulin Resistance ISO RGD:736416 D RGD:9068941 20200609 RGD PMID:16537411|REF_RGD_ID:2311703 11943517 RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:9008939 Breast Neoplasms ISO RGD:736416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17195088 11943517 RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:736416 D RGD:9068941 20200609 RGD DNA:repeat:intron (human) PMID:10024077|REF_RGD_ID:2311705 11943517 RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:736416 D RGD:9068941 20200609 RGD associated with Obesity;DNA:polymorphism:intron:4681C>T (human) PMID:15161552|REF_RGD_ID:2311704 11943526 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:0050581 brachydactyly ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:25741868|PMID:26168268|PMID:28492532|PMID:30755392|PMID:32901917|PMID:33106617 11943526 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:0060041 autism spectrum disorder ISO RGD:1345219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11943526 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:0070066 autosomal dominant intellectual developmental disorder 36 ISO RGD:1345219 D RGD:7240710 20180130 OMIM 11943526 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:0070066 autosomal dominant intellectual developmental disorder 36 ISO RGD:1345219 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 36 PMID:24728327|PMID:25533962|PMID:25741868|PMID:25944380|PMID:26168268|PMID:26619011|PMID:28492532|PMID:29100083|PMID:30755392|PMID:31531803|PMID:31687265|PMID:32901917|PMID:33106617 11943526 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:1345219 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:25741868|PMID:25944380|PMID:28492532|PMID:29100083|PMID:31531803|PMID:33106617 11943526 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:1059 intellectual disability ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26619011|PMID:28492532|PMID:31687265 11943526 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:10907 microcephaly ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:26168268|PMID:28492532|PMID:30755392|PMID:32901917|PMID:33106617 11943526 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:12347 osteogenesis imperfecta ISO RGD:1345219 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lobstein disease PMID:25741868|PMID:25944380|PMID:28492532|PMID:29100083|PMID:31531803|PMID:33106617 11943526 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:12849 autistic disorder ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868|PMID:26168268|PMID:28492532|PMID:30755392|PMID:32901917|PMID:33106617 11943526 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:2303 stereotypic movement disorder ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stereotypic movement disorder PMID:25741868|PMID:26168268|PMID:28492532|PMID:30755392|PMID:32901917|PMID:33106617 11943526 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:2526 prostate adenocarcinoma ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265 11943526 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:363 uterine cancer ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:25533962|PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265 11943526 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:3717 gastric adenocarcinoma ISO RGD:1345219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532 11943526 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:3717 gastric adenocarcinoma ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265 11943526 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:3910 lung adenocarcinoma ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265 11943526 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1345219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532 11943526 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265 11943526 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265 11943526 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:6171 uterine carcinosarcoma ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:25533962|PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265 11943526 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:630 genetic disease ISO RGD:1345219 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25533962|PMID:25741868|PMID:25944380|PMID:26168268|PMID:26619011|PMID:28492532|PMID:29100083|PMID:31531803|PMID:33106617 11943526 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:8398 osteoarthritis ISO RGD:1345219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11943526 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:9000217 Stomach Neoplasms ISO RGD:1345219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11943526 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:9000918 Disease Progression ISO RGD:1345219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11943526 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11943526 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:9005603 Muscle Hypotonia ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:26168268|PMID:28492532|PMID:30755392|PMID:32901917|PMID:33106617 11943526 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:9008443 Colorectal Neoplasms ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265 11943526 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:9008939 Breast Neoplasms ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265 11943564 GSTA4 glutathione S-transferase alpha 4 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1320601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20180811 11943564 GSTA4 glutathione S-transferase alpha 4 gene DOID:14330 Parkinson's disease ISO RGD:1320601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16510128 11943564 GSTA4 glutathione S-transferase alpha 4 gene DOID:2349 arteriosclerosis ISO RGD:1320601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15064094|PMID:20177342 11943564 GSTA4 glutathione S-transferase alpha 4 gene DOID:630 genetic disease ISO RGD:1320601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943564 GSTA4 glutathione S-transferase alpha 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1309970 D RGD:9068941 20200609 RGD mRNA:increased expression:lumbar segment of spinal cord (rat) PMID:22160604|REF_RGD_ID:5687769 11943564 GSTA4 glutathione S-transferase alpha 4 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:1309970 D RGD:9068941 20200609 RGD PMID:23075396|REF_RGD_ID:9685568 11943564 GSTA4 glutathione S-transferase alpha 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1309970 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, kidney, liver (rat) PMID:14693714|REF_RGD_ID:5687773 11943564 GSTA4 glutathione S-transferase alpha 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1320601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11943564 GSTA4 glutathione S-transferase alpha 4 gene DOID:9007692 Insulin Resistance ISO RGD:1320601 D RGD:9068941 20200609 RGD mRNA:decreased expression:omental fat pad, subcutaneous adipose tissue (human) PMID:20150287|REF_RGD_ID:5687771 11943564 GSTA4 glutathione S-transferase alpha 4 gene DOID:9007730 Burns ISO RGD:1320601 D RGD:9068941 20200609 RGD mRNA:altered expression:fat, muscle, skin (human) PMID:22038048|REF_RGD_ID:5687774 11943564 GSTA4 glutathione S-transferase alpha 4 gene DOID:9008691 Liver Injury ISO RGD:1309970 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:23159886|REF_RGD_ID:10401911 11943585 CEL carboxyl ester lipase gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:737498 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:25741868|PMID:32906201 11943585 CEL carboxyl ester lipase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:737498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11943585 CEL carboxyl ester lipase gene DOID:0080324 tuberous sclerosis 1 ISO RGD:737498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11943585 CEL carboxyl ester lipase gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:737498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11943585 CEL carboxyl ester lipase gene DOID:0081097 Rafiq syndrome ISO RGD:737498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11943585 CEL carboxyl ester lipase gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:737498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25741868 11943585 CEL carboxyl ester lipase gene DOID:0111105 maturity-onset diabetes of the young type 8 ISO RGD:737498 D RGD:7240710 20180130 OMIM 11943585 CEL carboxyl ester lipase gene DOID:0111105 maturity-onset diabetes of the young type 8 ISO RGD:737498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diabetes-pancreatic exocrine dysfunction syndrome | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 8 PMID:16369531|PMID:18414213|PMID:25741868|PMID:28492532|PMID:32906201 11943585 CEL carboxyl ester lipase gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:737498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11943585 CEL carboxyl ester lipase gene DOID:3153 lipomatosis ISO RGD:737498 D RGD:9068941 20200609 RGD associated with Prediabetic State; DNA:deletion:exon PMID:17259390|REF_RGD_ID:2313965 11943585 CEL carboxyl ester lipase gene DOID:3652 Leigh disease ISO RGD:737498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11943585 CEL carboxyl ester lipase gene DOID:630 genetic disease ISO RGD:737498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943585 CEL carboxyl ester lipase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2331 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas, PMID:8446851|REF_RGD_ID:2313971 11943585 CEL carboxyl ester lipase gene DOID:9006190 Chronic Pancreatitis ISO RGD:737498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25774637 11943585 CEL carboxyl ester lipase gene DOID:9351 diabetes mellitus ISO RGD:737498 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:18414213|PMID:25741868|PMID:28492532|PMID:32906201 11943585 CEL carboxyl ester lipase gene DOID:9352 type 2 diabetes mellitus ISO RGD:737498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25741868 11943585 CEL carboxyl ester lipase gene DOID:9744 type 1 diabetes mellitus ISO RGD:737498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 1 PMID:18414213|PMID:25741868 11943601 NEO1 neogenin 1 gene DOID:0080600 COVID-19 ISO RGD:733424 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11943601 NEO1 neogenin 1 gene DOID:0110225 Brugada syndrome 8 ISO RGD:733424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 11943601 NEO1 neogenin 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:733424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11943601 NEO1 neogenin 1 gene DOID:2717 Bloom syndrome ISO RGD:733424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11943601 NEO1 neogenin 1 gene DOID:3320 Tay-Sachs disease ISO RGD:733424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 11943601 NEO1 neogenin 1 gene DOID:5419 schizophrenia ISO RGD:733424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11943601 NEO1 neogenin 1 gene DOID:630 genetic disease ISO RGD:733424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943601 NEO1 neogenin 1 gene DOID:9002560 Penetrating Eye Injuries ISO RGD:619837 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:21887516|REF_RGD_ID:9850142 11943601 NEO1 neogenin 1 gene DOID:9008091 Optic Nerve Injuries ISO RGD:619837 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:21887516|REF_RGD_ID:9850142 11943601 NEO1 neogenin 1 gene DOID:9256 colorectal cancer ISO RGD:733424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11943635 TMEM239 transmembrane protein 239 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:5488169 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11943635 TMEM239 transmembrane protein 239 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:5488169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11943635 TMEM239 transmembrane protein 239 gene DOID:630 genetic disease ISO RGD:5488169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943641 ZC3H12A zinc finger CCCH-type containing 12A gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1602205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11943641 ZC3H12A zinc finger CCCH-type containing 12A gene DOID:12236 primary biliary cholangitis ISO RGD:1618974 D RGD:9068941 20220825 MouseDO OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221 11943641 ZC3H12A zinc finger CCCH-type containing 12A gene DOID:14115 toxic shock syndrome ISO RGD:1618974 D RGD:9068941 20201016 RGD PMID:23422584|REF_RGD_ID:39938961 11943641 ZC3H12A zinc finger CCCH-type containing 12A gene DOID:14262 oral candidiasis ISO RGD:1618974 D RGD:9068941 20201015 RGD PMID:26320658|REF_RGD_ID:11534569 11943641 ZC3H12A zinc finger CCCH-type containing 12A gene DOID:2043 hepatitis B treatment ISO RGD:1602205 D RGD:9068941 20201016 RGD human gene in a mouse model PMID:31926181|REF_RGD_ID:39938973 11943641 ZC3H12A zinc finger CCCH-type containing 12A gene DOID:630 genetic disease ISO RGD:1602205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943641 ZC3H12A zinc finger CCCH-type containing 12A gene DOID:874 bacterial pneumonia ISO RGD:1618974 D RGD:9068941 20201016 RGD associated with Pseudomonas Infections PMID:29695841|REF_RGD_ID:39938967 11943641 ZC3H12A zinc finger CCCH-type containing 12A gene DOID:9000469 Viral Myocarditis disease_progression ISO RGD:1618974 D RGD:9068941 20201016 RGD associated with Coxsackievirus Infections; mRNA,protein:increased expression:heart,pancreas (mouse) PMID:29043433|REF_RGD_ID:39938975 11943641 ZC3H12A zinc finger CCCH-type containing 12A gene DOID:9004017 Chronic Hepatitis C ISO RGD:1602205 D RGD:9068941 20201016 RGD protein:increased expression:liver (human) PMID:21739451|REF_RGD_ID:39938976 11943641 ZC3H12A zinc finger CCCH-type containing 12A gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:1602205 D RGD:9068941 20201015 RGD protein:increased expression:liver (human) PMID:25225661|REF_RGD_ID:39938960 11943641 ZC3H12A zinc finger CCCH-type containing 12A gene DOID:9004610 Acute Lung Injury severity ISO RGD:1618974 D RGD:9068941 20201016 RGD associated with toxic shock syndrome PMID:23422584|REF_RGD_ID:39938961 11943641 ZC3H12A zinc finger CCCH-type containing 12A gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:1602205 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22196138 11943641 ZC3H12A zinc finger CCCH-type containing 12A gene DOID:9006973 Acute Experimental Autoimmune Encephalomyelitis disease_progression ISO RGD:1618974 D RGD:9068941 20201015 RGD PMID:26320658|REF_RGD_ID:11534569 11943659 SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:0050651 atrioventricular septal defect ISO RGD:1314575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect PMID:11799392|PMID:15880370|PMID:16840568|PMID:17089404|PMID:18805831|PMID:19127206|PMID:20301550|PMID:21914180|PMID:22998683|PMID:24589093|PMID:25741868|PMID:26499378|PMID:28492532|PMID:28796785|PMID:29127259 11943659 SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:0060490 Schimke immuno-osseous dysplasia ISO RGD:1314575 D RGD:7240710 20180130 OMIM 11943659 SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:0060490 Schimke immuno-osseous dysplasia ISO RGD:1314575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia PMID:11799392|PMID:12471207|PMID:15523612|PMID:15880370|PMID:15884045|PMID:16199547|PMID:16237566|PMID:16840568|PMID:17089404|PMID:17576681|PMID:18805831|PMID:18974355|PMID:19127206|PMID:19793864|PMID:20179009|PMID:20301550|PMID:21914180|PMID:22998683|PMID:23359635|PMID:23671665|PMID:24589093|PMID:25349199|PMID:25640679|PMID:25741868|PMID:25748404|PMID:25943327|PMID:26089390|PMID:26195148|PMID:26499378|PMID:27577878|PMID:28204945|PMID:28492532|PMID:28780565|PMID:28796785|PMID:28844315|PMID:29127259|PMID:29282041|PMID:29802247|PMID:30026777|PMID:30635151|PMID:30784191|PMID:31039288|PMID:31275356|PMID:32393263|PMID:32499645|PMID:32604935|PMID:33203071|PMID:33532864|PMID:9536098 11943659 SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1314575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:28492532|PMID:28844315 11943659 SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:1184 nephrotic syndrome ISO RGD:1314575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:11799392|PMID:15880370|PMID:16840568|PMID:17089404|PMID:18805831|PMID:18974355|PMID:19127206|PMID:20301550|PMID:21914180|PMID:22998683|PMID:24589093|PMID:25741868|PMID:26499378|PMID:28492532|PMID:28796785|PMID:29127259 11943659 SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1314575 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868|PMID:28492532 11943659 SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:557 kidney disease ISO RGD:1314575 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 11943659 SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1314575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:11799392|PMID:15523612|PMID:16199547|PMID:18805831|PMID:20301550|PMID:25741868|PMID:28492532|PMID:30026777|PMID:30784191|PMID:32499645 11943659 SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:630 genetic disease ISO RGD:1314575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11943659 SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11943690 DNAH2 dynein axonemal heavy chain 2 gene DOID:0070297 primary microcephaly ISO RGD:1343596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:25741868 11943690 DNAH2 dynein axonemal heavy chain 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1343596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11943690 DNAH2 dynein axonemal heavy chain 2 gene DOID:0112163 spermatogenic failure 45 ISO RGD:1343596 D RGD:7240710 20201202 OMIM 11943690 DNAH2 dynein axonemal heavy chain 2 gene DOID:0112163 spermatogenic failure 45 ISO RGD:1343596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 45 PMID:25741868|PMID:30811583 11943690 DNAH2 dynein axonemal heavy chain 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1343596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11943690 DNAH2 dynein axonemal heavy chain 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1343596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11943690 DNAH2 dynein axonemal heavy chain 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1343596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11943690 DNAH2 dynein axonemal heavy chain 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1343596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 11943690 DNAH2 dynein axonemal heavy chain 2 gene DOID:630 genetic disease ISO RGD:1343596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943782 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:0060041 autism spectrum disorder ISO RGD:736752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11943782 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:0080228 autosomal dominant intellectual developmental disorder 53 ISO RGD:736752 D RGD:7240710 20190315 OMIM 11943782 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:0080228 autosomal dominant intellectual developmental disorder 53 ISO RGD:736752 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 53 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 PMID:25363768|PMID:25741868|PMID:25741872|PMID:28130356|PMID:29100089|PMID:29560374|PMID:29784083 11943782 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736752 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11943782 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:0081224 autosomal recessive intellectual developmental disorder 63 ISO RGD:736752 D RGD:7240710 20190315 OMIM 11943782 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:0081224 autosomal recessive intellectual developmental disorder 63 ISO RGD:736752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 63 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 PMID:25741868|PMID:29784083 11943782 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:1059 intellectual disability ISO RGD:736752 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25363768|PMID:25741868|PMID:28130356|PMID:29100089|PMID:29560374|PMID:29784083 11943782 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:10652 Alzheimer's disease ISO RGD:736752 D RGD:9068941 20200609 RGD PMID:15621017|REF_RGD_ID:13681926 11943782 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:14764 Larsen syndrome ISO RGD:736752 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Larsen syndrome PMID:25741868 11943782 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:224 transient cerebral ischemia ISO RGD:10284 D RGD:9068941 20200609 RGD PMID:12199152|REF_RGD_ID:13681927 11943782 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:224 transient cerebral ischemia ISO RGD:2261 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:12951199|REF_RGD_ID:7241547 11943782 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:3070 high grade glioma disease_progression ISO RGD:736752 D RGD:9068941 20200609 RGD PMID:29393370|REF_RGD_ID:13702478 11943782 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:3312 bipolar disorder ISO RGD:10284 D RGD:9068941 20220825 MouseDO 11943782 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:3525 middle cerebral artery infarction ISO RGD:2261 D RGD:9068941 20200609 RGD PMID:14688616|REF_RGD_ID:1358416 11943782 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:630 genetic disease ISO RGD:736752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943782 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:700 mitochondrial metabolism disease ISO RGD:736752 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30673822 11943782 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:893 Wilson disease ISO RGD:736752 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 11943782 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:9002211 Hyperalgesia ISO RGD:2261 D RGD:9068941 20200609 RGD PMID:18042863|REF_RGD_ID:7240711 11943782 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:9002211 Hyperalgesia ISO RGD:736752 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20053885 11943782 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:9004673 Hearing Loss, Cisplatin-Induced treatment ISO RGD:2261 D RGD:9068941 20200609 RGD PMID:23558232|REF_RGD_ID:9685025 11943782 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:9005369 Hepatomegaly ISO RGD:736752 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 11943782 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:9005372 Inflammation ISO RGD:2261 D RGD:9068941 20200609 RGD protein:increased expression:axon PMID:12176168|REF_RGD_ID:9685027 11943782 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:9005632 Cocaine-Related Disorders ISO RGD:736752 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14725635 11943782 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 11943782 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736752 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11943782 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:9008086 Developmental Disabilities ISO RGD:736752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741872 11943813 ORC6 origin recognition complex subunit 6 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1322900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:25741868 11943813 ORC6 origin recognition complex subunit 6 gene DOID:0060897 Parkinson's disease 17 ISO RGD:1322900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease 17 PMID:28492532 11943813 ORC6 origin recognition complex subunit 6 gene DOID:0080514 Meier-Gorlin syndrome 3 ISO RGD:1322900 D RGD:7240710 20190424 OMIM 11943813 ORC6 origin recognition complex subunit 6 gene DOID:0080514 Meier-Gorlin syndrome 3 ISO RGD:1322900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 3 PMID:17576681|PMID:18414213|PMID:21358632|PMID:22333897|PMID:25741868|PMID:28492532|PMID:7710253|PMID:9536098 11943813 ORC6 origin recognition complex subunit 6 gene DOID:0111041 glycogen storage disease IXb ISO RGD:1322900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 11943813 ORC6 origin recognition complex subunit 6 gene DOID:14330 Parkinson's disease ISO RGD:1322900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Dominant PMID:25741868 11943813 ORC6 origin recognition complex subunit 6 gene DOID:630 genetic disease ISO RGD:1322900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11943824 OPRM1 opioid receptor mu 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1551432 D RGD:9068941 20220825 MouseDO 11943824 OPRM1 opioid receptor mu 1 gene DOID:11162 respiratory failure ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27192616 11943824 OPRM1 opioid receptor mu 1 gene DOID:13413 hepatic encephalopathy ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11991257 11943824 OPRM1 opioid receptor mu 1 gene DOID:1574 alcohol use disorder ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12815747 11943824 OPRM1 opioid receptor mu 1 gene DOID:1826 epilepsy ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2415332 11943824 OPRM1 opioid receptor mu 1 gene DOID:1883 hepatitis C ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12937158|PMID:17299060 11943824 OPRM1 opioid receptor mu 1 gene DOID:2316 brain ischemia ISO RGD:3234 D RGD:9068941 20200609 RGD PMID:16176345|REF_RGD_ID:2316630 11943824 OPRM1 opioid receptor mu 1 gene DOID:2559 opiate dependence ISO RGD:737513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Opioid dependence, susceptibility to, 1 PMID:11134674|PMID:11773858|PMID:11773859|PMID:15037869|PMID:15086512|PMID:16046395|PMID:16387451|PMID:16682632|PMID:16906017|PMID:19528658|PMID:9193881|PMID:9689128 11943824 OPRM1 opioid receptor mu 1 gene DOID:2560 morphine dependence ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3720824 11943824 OPRM1 opioid receptor mu 1 gene DOID:303 substance-related disorder ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27192616 11943824 OPRM1 opioid receptor mu 1 gene DOID:480 movement disease ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20298714 11943824 OPRM1 opioid receptor mu 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:3234 D RGD:9068941 20200609 RGD mRNA:increased expression:macrophage PMID:17553897|REF_RGD_ID:2316609 11943824 OPRM1 opioid receptor mu 1 gene DOID:630 genetic disease ISO RGD:737513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943824 OPRM1 opioid receptor mu 1 gene DOID:646 viral encephalitis ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27400929 11943824 OPRM1 opioid receptor mu 1 gene DOID:670 amphetamine abuse ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16402083 11943824 OPRM1 opioid receptor mu 1 gene DOID:8646 substance-induced psychosis ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16402083 11943824 OPRM1 opioid receptor mu 1 gene DOID:9000641 Pain ISO RGD:3234 D RGD:9068941 20200609 RGD PMID:12710986|REF_RGD_ID:2316589 11943824 OPRM1 opioid receptor mu 1 gene DOID:9001581 Constipation ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27192616 11943824 OPRM1 opioid receptor mu 1 gene DOID:9002211 Hyperalgesia ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17996026 11943824 OPRM1 opioid receptor mu 1 gene DOID:9002916 Hyperphagia ISO RGD:3234 D RGD:9068941 20200609 RGD PMID:9808678|REF_RGD_ID:9831410 11943824 OPRM1 opioid receptor mu 1 gene DOID:9004009 Reperfusion Injury ISO RGD:3234 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:hippocampus PMID:17360495|REF_RGD_ID:2316611 11943824 OPRM1 opioid receptor mu 1 gene DOID:9004086 AIDS Dementia Complex ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27400929 11943824 OPRM1 opioid receptor mu 1 gene DOID:9004751 Nausea ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27192616 11943824 OPRM1 opioid receptor mu 1 gene DOID:9005372 Inflammation ISO RGD:3234 D RGD:9068941 20200609 RGD protein:increased internalization:spinal cord PMID:19298846|REF_RGD_ID:2316601 11943824 OPRM1 opioid receptor mu 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12815747|PMID:16893609|PMID:18762918 11943824 OPRM1 opioid receptor mu 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3234 D RGD:9068941 20200609 RGD PMID:16901587|REF_RGD_ID:2316626 11943824 OPRM1 opioid receptor mu 1 gene DOID:9005950 Orthostatic Hypotension ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2981652 11943824 OPRM1 opioid receptor mu 1 gene DOID:9005968 Neuralgia ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14718584|PMID:18400411 11943824 OPRM1 opioid receptor mu 1 gene DOID:9006202 Pruritus ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27192616 11943824 OPRM1 opioid receptor mu 1 gene DOID:9008675 Dyskinesias ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16435402 11943824 OPRM1 opioid receptor mu 1 gene DOID:9976 heroin dependence ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20201854 11943870 CLRN3 clarin 3 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1603923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11943870 CLRN3 clarin 3 gene DOID:630 genetic disease ISO RGD:1603923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943877 CENPU centromere protein U gene DOID:0080600 COVID-19 ISO RGD:1351502 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11943877 CENPU centromere protein U gene DOID:630 genetic disease ISO RGD:1351502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943877 CENPU centromere protein U gene DOID:684 hepatocellular carcinoma ISO RGD:1351502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11943909 FNDC8 fibronectin type III domain containing 8 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603304 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11943909 FNDC8 fibronectin type III domain containing 8 gene DOID:630 genetic disease ISO RGD:1603304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943909 FNDC8 fibronectin type III domain containing 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11943917 RC3H1 ring finger and CCCH-type domains 1 gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1557447 D RGD:9068941 20220825 MouseDO 11943917 RC3H1 ring finger and CCCH-type domains 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1604740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11943917 RC3H1 ring finger and CCCH-type domains 1 gene DOID:3755 antithrombin III deficiency ISO RGD:1604740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 11943917 RC3H1 ring finger and CCCH-type domains 1 gene DOID:630 genetic disease ISO RGD:1604740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943917 RC3H1 ring finger and CCCH-type domains 1 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1604740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 11943917 RC3H1 ring finger and CCCH-type domains 1 gene DOID:9004766 Familial Hemophagocytic Lymphohistiocytosis 6 ISO RGD:1604740 D RGD:7240710 20200930 OMIM 11943917 RC3H1 ring finger and CCCH-type domains 1 gene DOID:9004766 Familial Hemophagocytic Lymphohistiocytosis 6 ISO RGD:1604740 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 6 PMID:25741868 11943917 RC3H1 ring finger and CCCH-type domains 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1604740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 11943917 RC3H1 ring finger and CCCH-type domains 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1557447 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 11943917 RC3H1 ring finger and CCCH-type domains 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11943951 LOC100977815 olfactory receptor 2A5 gene DOID:630 genetic disease ISO RGD:1343457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943964 SNTN sentan, cilia apical structure protein gene DOID:630 genetic disease ISO RGD:2306150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943979 MCUR1 mitochondrial calcium uniporter regulator 1 gene DOID:630 genetic disease ISO RGD:1349094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943992 PHF24 PHD finger protein 24 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1342853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11943992 PHF24 PHD finger protein 24 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1342853 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11943992 PHF24 PHD finger protein 24 gene DOID:0080942 anauxetic dysplasia ISO RGD:1342853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11943992 PHF24 PHD finger protein 24 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1342853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11943992 PHF24 PHD finger protein 24 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1342853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11943992 PHF24 PHD finger protein 24 gene DOID:3007 breast ductal carcinoma ISO RGD:1342853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 11943992 PHF24 PHD finger protein 24 gene DOID:630 genetic disease ISO RGD:1342853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11943992 PHF24 PHD finger protein 24 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1342853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11943992 PHF24 PHD finger protein 24 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1342853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11943992 PHF24 PHD finger protein 24 gene DOID:9870 galactosemia ISO RGD:1342853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11944017 GTF2IRD1 GTF2I repeat domain containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:733836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 11944017 GTF2IRD1 GTF2I repeat domain containing 1 gene DOID:10923 sickle cell anemia ISO RGD:733836 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 11944017 GTF2IRD1 GTF2I repeat domain containing 1 gene DOID:12849 autistic disorder ISO RGD:733836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11944017 GTF2IRD1 GTF2I repeat domain containing 1 gene DOID:1928 Williams-Beuren syndrome ISO RGD:733836 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 11944017 GTF2IRD1 GTF2I repeat domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11944017 GTF2IRD1 GTF2I repeat domain containing 1 gene DOID:5419 schizophrenia ISO RGD:733836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11944017 GTF2IRD1 GTF2I repeat domain containing 1 gene DOID:630 genetic disease ISO RGD:733836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944017 GTF2IRD1 GTF2I repeat domain containing 1 gene DOID:8445 intestinal volvulus ISO RGD:733836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11944017 GTF2IRD1 GTF2I repeat domain containing 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:733836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:32349160 11944017 GTF2IRD1 GTF2I repeat domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11944017 GTF2IRD1 GTF2I repeat domain containing 1 gene DOID:9007491 Childhood Schizophrenia ISO RGD:733836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 11944017 GTF2IRD1 GTF2I repeat domain containing 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:733836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11944017 GTF2IRD1 GTF2I repeat domain containing 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20007321 11944061 CAVIN1 caveolae associated protein 1 gene DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 ISO RGD:1317017 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive PMID:28492532 11944061 CAVIN1 caveolae associated protein 1 gene DOID:0111138 congenital generalized lipodystrophy type 4 ISO RGD:1317017 D RGD:7240710 20180130 OMIM 11944061 CAVIN1 caveolae associated protein 1 gene DOID:0111138 congenital generalized lipodystrophy type 4 ISO RGD:1317017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 4 PMID:12116229|PMID:18698612|PMID:19726876|PMID:20300641|PMID:20684003|PMID:25741868|PMID:26467025|PMID:28492532 11944061 CAVIN1 caveolae associated protein 1 gene DOID:14749 methylmalonic acidemia ISO RGD:1317017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 11944061 CAVIN1 caveolae associated protein 1 gene DOID:3261 hyper IgE recurrent infection syndrome 1 ISO RGD:1317017 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1 PMID:28492532 11944061 CAVIN1 caveolae associated protein 1 gene DOID:630 genetic disease ISO RGD:1317017 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11944061 CAVIN1 caveolae associated protein 1 gene DOID:6432 pulmonary hypertension ISO RGD:1317018 D RGD:9068941 20220825 MouseDO OMIM:615371 11944061 CAVIN1 caveolae associated protein 1 gene DOID:9004657 Weight Gain ISO RGD:1317017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11944061 CAVIN1 caveolae associated protein 1 gene DOID:9351 diabetes mellitus ISO RGD:1317017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 11944068 SEC61B SEC61 translocon subunit beta gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1312761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 11944068 SEC61B SEC61 translocon subunit beta gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1312761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 11944068 SEC61B SEC61 translocon subunit beta gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1312761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 11944068 SEC61B SEC61 translocon subunit beta gene DOID:1059 intellectual disability ISO RGD:1312761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11944068 SEC61B SEC61 translocon subunit beta gene DOID:12712 nephronophthisis ISO RGD:1312761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 11944068 SEC61B SEC61 translocon subunit beta gene DOID:14004 thoracic aortic aneurysm ISO RGD:1312761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 11944068 SEC61B SEC61 translocon subunit beta gene DOID:630 genetic disease ISO RGD:1312761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944076 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:0060041 autism spectrum disorder ISO RGD:735326 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11944076 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:0080230 autosomal dominant intellectual developmental disorder 54 ISO RGD:735326 D RGD:7240710 20190315 OMIM 11944076 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:0080230 autosomal dominant intellectual developmental disorder 54 ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 54 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 PMID:25741868|PMID:28492532|PMID:29100089|PMID:29560374|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 11944076 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:1059 intellectual disability ISO RGD:735326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:29100089|PMID:32581362|PMID:32875707 11944076 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:1059 intellectual disability ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:29100089|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 11944076 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:10907 microcephaly ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:29100089|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 11944076 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:3070 high grade glioma disease_progression ISO RGD:10285 D RGD:9068941 20200609 RGD PMID:15750623|REF_RGD_ID:13702479 11944076 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:3181 oligodendroglioma disease_progression ISO RGD:10285 D RGD:9068941 20200609 RGD PMID:15750623|REF_RGD_ID:13702479 11944076 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11944076 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:5062 phencyclidine abuse ISO RGD:735326 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 11944076 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:5419 schizophrenia ISO RGD:10284 D RGD:9068941 20200609 RGD PMID:20336626|REF_RGD_ID:9685022 11944076 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:5419 schizophrenia ISO RGD:735326 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11042361|PMID:20336626 11944076 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:543 dystonia ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia PMID:25741868|PMID:28492532|PMID:29100089|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 11944076 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:630 genetic disease ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29100089|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 11944076 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:8646 substance-induced psychosis ISO RGD:735326 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17603807 11944076 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11944076 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:9004673 Hearing Loss, Cisplatin-Induced treatment ISO RGD:2262 D RGD:9068941 20200609 RGD PMID:23558232|REF_RGD_ID:9685025 11944076 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:9004992 Apnea ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Apnea PMID:25741868|PMID:28492532|PMID:29100089|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 11944076 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735326 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 11944076 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:9006534 Nervous System Malformations ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:28492532|PMID:29100089|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 11944076 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:9006680 Hyperventilation ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperventilation PMID:25741868|PMID:28492532|PMID:29100089|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 11944076 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:9008086 Developmental Disabilities ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:29100089|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 11944076 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:9008582 Developmental Disease ISO RGD:735326 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11944076 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:9505 cannabis abuse ISO RGD:735326 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 11944107 LOC100986453 ribosomal RNA-processing protein 7 homolog A gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1607047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 11944107 LOC100986453 ribosomal RNA-processing protein 7 homolog A gene DOID:1059 intellectual disability ISO RGD:1607047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11944107 LOC100986453 ribosomal RNA-processing protein 7 homolog A gene DOID:630 genetic disease ISO RGD:1607047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944107 LOC100986453 ribosomal RNA-processing protein 7 homolog A gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1607047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 11944107 LOC100986453 ribosomal RNA-processing protein 7 homolog A gene DOID:9007625 Primary Autosomal Recessive Microcephaly 28 ISO RGD:1607047 D RGD:7240710 20210804 OMIM 11944107 LOC100986453 ribosomal RNA-processing protein 7 homolog A gene DOID:9007625 Primary Autosomal Recessive Microcephaly 28 ISO RGD:1607047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 28, primary, autosomal recessive PMID:33199730 11944108 RCVRN recoverin gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:734065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 11944108 RCVRN recoverin gene DOID:630 genetic disease ISO RGD:734065 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944116 PCBD2 pterin-4 alpha-carbinolamine dehydratase 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353306 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11944116 PCBD2 pterin-4 alpha-carbinolamine dehydratase 2 gene DOID:630 genetic disease ISO RGD:1353306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944116 PCBD2 pterin-4 alpha-carbinolamine dehydratase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11944116 PCBD2 pterin-4 alpha-carbinolamine dehydratase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353306 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11944125 TMEM245 transmembrane protein 245 gene DOID:0080435 developmental and epileptic encephalopathy 37 ISO RGD:1319034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 PMID:28492532 11944125 TMEM245 transmembrane protein 245 gene DOID:630 genetic disease ISO RGD:1319034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944151 RABEPK Rab9 effector protein with kelch motifs gene DOID:630 genetic disease ISO RGD:1604052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944151 RABEPK Rab9 effector protein with kelch motifs gene DOID:9002189 High Myopia ISO RGD:1604052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11944169 LOC100988482 myomegalin gene DOID:1540 parathyroid carcinoma ISO RGD:1352019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11944169 LOC100988482 myomegalin gene DOID:5419 schizophrenia ISO RGD:1352019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11944169 LOC100988482 myomegalin gene DOID:684 hepatocellular carcinoma ISO RGD:1352019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 11944169 LOC100988482 myomegalin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11944170 HTR5A 5-hydroxytryptamine receptor 5A gene DOID:0110875 holoprosencephaly 3 ISO RGD:735325 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:23370340|PMID:24095820|PMID:28492532|PMID:29992659|PMID:31334757 11944170 HTR5A 5-hydroxytryptamine receptor 5A gene DOID:10283 prostate cancer ISO RGD:735325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11944170 HTR5A 5-hydroxytryptamine receptor 5A gene DOID:12849 autistic disorder ISO RGD:735325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11944170 HTR5A 5-hydroxytryptamine receptor 5A gene DOID:630 genetic disease ISO RGD:735325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944180 NET1 neuroepithelial cell transforming 1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1312823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11944180 NET1 neuroepithelial cell transforming 1 gene DOID:0080600 COVID-19 ISO RGD:1312823 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11944180 NET1 neuroepithelial cell transforming 1 gene DOID:2843 long QT syndrome ISO RGD:1312823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11944180 NET1 neuroepithelial cell transforming 1 gene DOID:3070 high grade glioma ISO RGD:1312823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11944180 NET1 neuroepithelial cell transforming 1 gene DOID:5419 schizophrenia ISO RGD:1312823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11944180 NET1 neuroepithelial cell transforming 1 gene DOID:630 genetic disease ISO RGD:1312823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944205 WDR48 WD repeat domain 48 gene DOID:1561 cognitive disorder ISO RGD:1347511 D RGD:9068941 20230406 CTD CTD Direct Evidence: therapeutic PMID:36047109 11944205 WDR48 WD repeat domain 48 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28832565 11944205 WDR48 WD repeat domain 48 gene DOID:630 genetic disease ISO RGD:1347511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944233 IRAG2 inositol 1,4,5-triphosphate receptor associated 2 gene DOID:630 genetic disease ISO RGD:1343006 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944271 DSE dermatan sulfate epimerase gene DOID:0060163 body dysmorphic disorder ISO RGD:1312897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 11944271 DSE dermatan sulfate epimerase gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1312897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 11944271 DSE dermatan sulfate epimerase gene DOID:0080737 Ehlers-Danlos syndrome musculocontractural type 2 ISO RGD:1312897 D RGD:7240710 20180130 OMIM 11944271 DSE dermatan sulfate epimerase gene DOID:0080737 Ehlers-Danlos syndrome musculocontractural type 2 ISO RGD:1312897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2 PMID:23704329|PMID:25703627|PMID:25741868|PMID:28492532 11944271 DSE dermatan sulfate epimerase gene DOID:1059 intellectual disability ISO RGD:1312897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 11944271 DSE dermatan sulfate epimerase gene DOID:10907 microcephaly ISO RGD:1312897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 11944271 DSE dermatan sulfate epimerase gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1312897 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28492532 11944271 DSE dermatan sulfate epimerase gene DOID:1826 epilepsy ISO RGD:1312897 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11944271 DSE dermatan sulfate epimerase gene DOID:630 genetic disease ISO RGD:1312897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11944271 DSE dermatan sulfate epimerase gene DOID:9000495 Tremor ISO RGD:1312897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 11944271 DSE dermatan sulfate epimerase gene DOID:9000938 Sudden Infant Death with Dysgenesis of the Testes Syndrome ISO RGD:1312897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sudden infant death with dysgenesis of the testes syndrome PMID:15273283|PMID:25741868 11944283 RAB11FIP1 RAB11 family interacting protein 1 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1347457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 11944283 RAB11FIP1 RAB11 family interacting protein 1 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1347457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 11944283 RAB11FIP1 RAB11 family interacting protein 1 gene DOID:607 paraplegia ISO RGD:1347457 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11944283 RAB11FIP1 RAB11 family interacting protein 1 gene DOID:630 genetic disease ISO RGD:1347457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944304 DNTTIP1 deoxynucleotidyltransferase terminal interacting protein 1 gene DOID:2234 focal epilepsy ISO RGD:1322651 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11944304 DNTTIP1 deoxynucleotidyltransferase terminal interacting protein 1 gene DOID:630 genetic disease ISO RGD:1322651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944304 DNTTIP1 deoxynucleotidyltransferase terminal interacting protein 1 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1322651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11944369 RARA retinoic acid receptor alpha gene DOID:0060318 acute promyelocytic leukemia ISO RGD:733999 D RGD:7240710 20180130 OMIM 11944369 RARA retinoic acid receptor alpha gene DOID:11446 sciatic neuropathy ISO RGD:733999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16782282 11944369 RARA retinoic acid receptor alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:3534 D RGD:9068941 20200609 RGD PMID:17956549|REF_RGD_ID:2314289 11944369 RARA retinoic acid receptor alpha gene DOID:3324 mood disorder ISO RGD:733999 D RGD:9068941 20200609 RGD PMID:19596122|REF_RGD_ID:2314250 11944369 RARA retinoic acid receptor alpha gene DOID:630 genetic disease ISO RGD:733999 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15193451|PMID:25741868|PMID:9111026 11944369 RARA retinoic acid receptor alpha gene DOID:684 hepatocellular carcinoma ISO RGD:733999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18026104 11944369 RARA retinoic acid receptor alpha gene DOID:9000039 Spinal Cord Injuries ISO RGD:3534 D RGD:9068941 20200609 RGD PMID:16420438|REF_RGD_ID:2314291 11944369 RARA retinoic acid receptor alpha gene DOID:9003370 Dyslipidemias ISO RGD:733999 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 11944369 RARA retinoic acid receptor alpha gene DOID:9004240 Phyllodes Tumor ISO RGD:733999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 11944369 RARA retinoic acid receptor alpha gene DOID:9005715 Neoplasms, Second Primary ISO RGD:733999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19884644 11944369 RARA retinoic acid receptor alpha gene DOID:9006947 Fibroadenoma ISO RGD:733999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 11944369 RARA retinoic acid receptor alpha gene DOID:9008939 Breast Neoplasms ISO RGD:733999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 11944395 GMCL1 germ cell-less 1, spermatogenesis associated gene DOID:630 genetic disease ISO RGD:1605349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944413 CLDN15 claudin 15 gene DOID:1790 malignant mesothelioma ISO RGD:1321720 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:28377727 11944413 CLDN15 claudin 15 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11944413 CLDN15 claudin 15 gene DOID:630 genetic disease ISO RGD:1321720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944425 CFAP45 cilia and flagella associated protein 45 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1604370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11944425 CFAP45 cilia and flagella associated protein 45 gene DOID:1540 parathyroid carcinoma ISO RGD:1604370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11944425 CFAP45 cilia and flagella associated protein 45 gene DOID:1790 malignant mesothelioma ISO RGD:1604370 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 11944425 CFAP45 cilia and flagella associated protein 45 gene DOID:630 genetic disease ISO RGD:1604370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944425 CFAP45 cilia and flagella associated protein 45 gene DOID:9002158 Visceral Heterotaxy 11, Autosomal ISO RGD:1604370 D RGD:7240710 20211201 OMIM 11944425 CFAP45 cilia and flagella associated protein 45 gene DOID:9002158 Visceral Heterotaxy 11, Autosomal ISO RGD:1604370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 11, autosomal, with male infertility PMID:33139725 11944425 CFAP45 cilia and flagella associated protein 45 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11944451 LIM2 lens intrinsic membrane protein 2 gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1342579 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:16510302|PMID:23785301|PMID:28492532 11944451 LIM2 lens intrinsic membrane protein 2 gene DOID:0080600 COVID-19 ISO RGD:1342579 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11944451 LIM2 lens intrinsic membrane protein 2 gene DOID:0110263 cataract 19 multiple types ISO RGD:1342579 D RGD:7240710 20180130 OMIM 11944451 LIM2 lens intrinsic membrane protein 2 gene DOID:0110263 cataract 19 multiple types ISO RGD:1342579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 19 multiple types PMID:11917274|PMID:18596884|PMID:21386927|PMID:25741868|PMID:28492532|PMID:32202185|PMID:33078099 11944451 LIM2 lens intrinsic membrane protein 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1342579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 11944451 LIM2 lens intrinsic membrane protein 2 gene DOID:630 genetic disease ISO RGD:1342579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944451 LIM2 lens intrinsic membrane protein 2 gene DOID:83 cataract ISO RGD:1342579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Cortical pulverulent cataract PMID:28492532|PMID:32202185|PMID:33078099 11944451 LIM2 lens intrinsic membrane protein 2 gene DOID:83 cataract onset ISO RGD:1342579 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: p.F105V (human) PMID:11917274|REF_RGD_ID:1600309 11944464 ANKFN1 ankyrin repeat and fibronectin type III domain containing 1 gene DOID:630 genetic disease ISO RGD:1604222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944464 ANKFN1 ankyrin repeat and fibronectin type III domain containing 1 gene DOID:9004791 Stapes Ankylosis with Broad Thumbs and Toes ISO RGD:1604222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stapes ankylosis with broad thumbs and toes 11944485 HBE1 hemoglobin subunit epsilon 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1312957 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11944485 HBE1 hemoglobin subunit epsilon 1 gene DOID:10923 sickle cell anemia treatment ISO RGD:1312957 D RGD:9068941 20200611 RGD PMID:12124399|REF_RGD_ID:11353858 11944485 HBE1 hemoglobin subunit epsilon 1 gene DOID:10923 sickle cell anemia treatment ISO RGD:1312957 D RGD:9068941 20200611 RGD DNA:SNP: :rs7130110 (human) PMID:23409025|REF_RGD_ID:11353860 11944485 HBE1 hemoglobin subunit epsilon 1 gene DOID:630 genetic disease ISO RGD:1312957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944493 GTF2E2 general transcription factor IIE subunit 2 gene DOID:0111872 nonphotosensitive trichothiodystrophy 6 ISO RGD:1320859 D RGD:7240710 20190315 OMIM 11944493 GTF2E2 general transcription factor IIE subunit 2 gene DOID:0111872 nonphotosensitive trichothiodystrophy 6 ISO RGD:1320859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 6, nonphotosensitive PMID:25741868|PMID:26996949|PMID:28492532 11944493 GTF2E2 general transcription factor IIE subunit 2 gene DOID:630 genetic disease ISO RGD:1320859 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11944513 CAND1 cullin associated and neddylation dissociated 1 gene DOID:10283 prostate cancer ISO RGD:733696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11944513 CAND1 cullin associated and neddylation dissociated 1 gene DOID:630 genetic disease ISO RGD:733696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944532 IRF6 interferon regulatory factor 6 gene DOID:0060055 popliteal pterygium syndrome ISO RGD:1320095 D RGD:7240710 20180130 OMIM 11944532 IRF6 interferon regulatory factor 6 gene DOID:0060055 popliteal pterygium syndrome ISO RGD:1320095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Faciogenitopopliteal syndrome | ClinVar Annotator: match by term: Popliteal pterygium syndrome PMID:12219090|PMID:14757865|PMID:15558496|PMID:16096995|PMID:17551329|PMID:18209213|PMID:18478600|PMID:18617879|PMID:19036739|PMID:19734457|PMID:20803643|PMID:22440537|PMID:22488974|PMID:24936515|PMID:25547932|PMID:25548624|PMID:25691407|PMID:25741868|PMID:28492532|PMID:29453417 11944532 IRF6 interferon regulatory factor 6 gene DOID:0060239 Van der Woude syndrome ISO RGD:1320095 D RGD:7240710 20180130 OMIM 11944532 IRF6 interferon regulatory factor 6 gene DOID:0060239 Van der Woude syndrome ISO RGD:1320095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cleft lip and/or palate with mucous cysts of lower lip | ClinVar Annotator: match by term: Van der Woude syndrome 1 PMID:12219090|PMID:12920575|PMID:14618417|PMID:14757865|PMID:15317890|PMID:15472655|PMID:15558496|PMID:16096995|PMID:16160700|PMID:16199547|PMID:16211254|PMID:17551329|PMID:18209213|PMID:18478600|PMID:18617879|PMID:19036739|PMID:19282774|PMID:19449419|PMID:19623037|PMID:19734457|PMID:19842205|PMID:20184620|PMID:20301581|PMID:21045959|PMID:21468557|PMID:22440537|PMID:22488974|PMID:23154523|PMID:23949966|PMID:24936515|PMID:25326635|PMID:25547932|PMID:25548624|PMID:25579819|PMID:25741868|PMID:25784454|PMID:27243668|PMID:28492532|PMID:28945736|PMID:29115498|PMID:29453417|PMID:30689861|PMID:31468312 11944532 IRF6 interferon regulatory factor 6 gene DOID:0080403 orofacial cleft 10 ISO RGD:1320095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofacial cleft 10 PMID:26346622|PMID:27834299|PMID:28762674|PMID:28762675|PMID:28762676 11944532 IRF6 interferon regulatory factor 6 gene DOID:0080593 orofacial cleft 6 ISO RGD:1320095 D RGD:7240710 20191127 OMIM 11944532 IRF6 interferon regulatory factor 6 gene DOID:0080593 orofacial cleft 6 ISO RGD:1320095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Orofacial cleft 6, susceptibility to PMID:12219090|PMID:12920575|PMID:15317890|PMID:15472655|PMID:15558496|PMID:16096995|PMID:16160700|PMID:16199547|PMID:16211254|PMID:16998136|PMID:17551329|PMID:17576681|PMID:18209213|PMID:18617879|PMID:19036739|PMID:19282774|PMID:19449419|PMID:19623037|PMID:19734457|PMID:19842205|PMID:20184620|PMID:20301581|PMID:21045959|PMID:21468557|PMID:22440537|PMID:22488974|PMID:23154523|PMID:23394314|PMID:23713753|PMID:23949966|PMID:24936515|PMID:25326635|PMID:25547932|PMID:25548624|PMID:25579819|PMID:25741868|PMID:25784454|PMID:28361103|PMID:28492532|PMID:28945736|PMID:29115498|PMID:29453417|PMID:30982524|PMID:31468312|PMID:31901040|PMID:9536098 11944532 IRF6 interferon regulatory factor 6 gene DOID:11193 syndactyly ISO RGD:1320095 D RGD:9068941 20200609 RGD popliteal pterygium syndrome, OMIM:119500 DNA:nonsense_mutation:CDS:amino acid Q393X PMID:12219090|REF_RGD_ID:1600214 11944532 IRF6 interferon regulatory factor 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1320095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11944532 IRF6 interferon regulatory factor 6 gene DOID:630 genetic disease ISO RGD:1320095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12219090|PMID:16199547|PMID:19282774|PMID:19623037|PMID:21468557|PMID:25579819|PMID:28492532 11944532 IRF6 interferon regulatory factor 6 gene DOID:674 cleft palate ISO RGD:1320095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:12920575|PMID:25741868 11944532 IRF6 interferon regulatory factor 6 gene DOID:9001611 Urogenital Abnormalities ISO RGD:1320095 D RGD:9068941 20200609 RGD popliteal pterygium syndrome, OMIM:119500 DNA:nonsense_mutation:CDS:amino acid Q393X PMID:12219090|REF_RGD_ID:1600214 11944532 IRF6 interferon regulatory factor 6 gene DOID:9001946 Skin Abnormalities ISO RGD:1320095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17041601 11944532 IRF6 interferon regulatory factor 6 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1320095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17041601 11944532 IRF6 interferon regulatory factor 6 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1320095 D RGD:9068941 20200609 RGD popliteal pterygium syndrome, OMIM:119500 DNA:nonsense_mutation:CDS:amino acid Q393X PMID:12219090|REF_RGD_ID:1600214 11944532 IRF6 interferon regulatory factor 6 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17041601 11944532 IRF6 interferon regulatory factor 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11944532 IRF6 interferon regulatory factor 6 gene DOID:9296 cleft lip ISO RGD:1320095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant PMID:28492532 11944558 PAIP2 poly(A) binding protein interacting protein 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1312240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11944558 PAIP2 poly(A) binding protein interacting protein 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1312240 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11944558 PAIP2 poly(A) binding protein interacting protein 2 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1312240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 11944558 PAIP2 poly(A) binding protein interacting protein 2 gene DOID:630 genetic disease ISO RGD:1312240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944558 PAIP2 poly(A) binding protein interacting protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11944558 PAIP2 poly(A) binding protein interacting protein 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1312240 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11944558 PAIP2 poly(A) binding protein interacting protein 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1312240 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 11944566 DHRS11 dehydrogenase/reductase 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1601851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 11944566 DHRS11 dehydrogenase/reductase 11 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1601851 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 11944566 DHRS11 dehydrogenase/reductase 11 gene DOID:12849 autistic disorder ISO RGD:1601851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11944566 DHRS11 dehydrogenase/reductase 11 gene DOID:5419 schizophrenia ISO RGD:1601851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11944566 DHRS11 dehydrogenase/reductase 11 gene DOID:630 genetic disease ISO RGD:1601851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944566 DHRS11 dehydrogenase/reductase 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11944566 DHRS11 dehydrogenase/reductase 11 gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:1601851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 11944583 LRRC31 leucine rich repeat containing 31 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1346329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 11944583 LRRC31 leucine rich repeat containing 31 gene DOID:1062 Fanconi syndrome ISO RGD:1346329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 11944583 LRRC31 leucine rich repeat containing 31 gene DOID:630 genetic disease ISO RGD:1346329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944600 SFXN5 sideroflexin 5 gene DOID:0050473 Alstrom syndrome ISO RGD:1343188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 11944600 SFXN5 sideroflexin 5 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1343188 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11944600 SFXN5 sideroflexin 5 gene DOID:543 dystonia ISO RGD:1343188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11944600 SFXN5 sideroflexin 5 gene DOID:630 genetic disease ISO RGD:1343188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944600 SFXN5 sideroflexin 5 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1343188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11944637 ATP5PO ATP synthase peripheral stalk subunit OSCP gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1348097 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11944637 ATP5PO ATP synthase peripheral stalk subunit OSCP gene DOID:0060898 Parkinson's disease 20 ISO RGD:1348097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 11944637 ATP5PO ATP synthase peripheral stalk subunit OSCP gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1348097 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11944637 ATP5PO ATP synthase peripheral stalk subunit OSCP gene DOID:10652 Alzheimer's disease ISO RGD:1348097 D RGD:9068941 20200609 RGD PMID:30266287|REF_RGD_ID:14696823 11944637 ATP5PO ATP synthase peripheral stalk subunit OSCP gene DOID:10652 Alzheimer's disease treatment ISO RGD:734072 D RGD:9068941 20200609 RGD PMID:30266287|REF_RGD_ID:14696823 11944637 ATP5PO ATP synthase peripheral stalk subunit OSCP gene DOID:1459 hypothyroidism ISO RGD:621379 D RGD:9068941 20200609 RGD protein:decreased expression:liver, mitochondrion (rat) PMID:9733093|REF_RGD_ID:13838730 11944637 ATP5PO ATP synthase peripheral stalk subunit OSCP gene DOID:1459 hypothyroidism treatment ISO RGD:621379 D RGD:9068941 20200609 RGD PMID:19878644|REF_RGD_ID:13830874 11944637 ATP5PO ATP synthase peripheral stalk subunit OSCP gene DOID:1826 epilepsy ISO RGD:1348097 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure 11944637 ATP5PO ATP synthase peripheral stalk subunit OSCP gene DOID:3652 Leigh disease ISO RGD:1348097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868 11944637 ATP5PO ATP synthase peripheral stalk subunit OSCP gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1348097 D RGD:9068941 20200609 RGD PMID:28672194|REF_RGD_ID:14696810 11944637 ATP5PO ATP synthase peripheral stalk subunit OSCP gene DOID:5844 myocardial infarction treatment ISO RGD:734072 D RGD:9068941 20200609 RGD PMID:24692845|REF_RGD_ID:13801194 11944637 ATP5PO ATP synthase peripheral stalk subunit OSCP gene DOID:630 genetic disease ISO RGD:1348097 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944637 ATP5PO ATP synthase peripheral stalk subunit OSCP gene DOID:9000392 Fluoride Poisoning ISO RGD:621379 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart, mitochondrion (rat) PMID:21251948|REF_RGD_ID:5131501 11944637 ATP5PO ATP synthase peripheral stalk subunit OSCP gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1348097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868 11944637 ATP5PO ATP synthase peripheral stalk subunit OSCP gene DOID:9002101 Mitochondrial Complex V (ATP Synthase) Deficiency Nuclear Type 7 ISO RGD:1348097 D RGD:7240710 20230505 OMIM 11944637 ATP5PO ATP synthase peripheral stalk subunit OSCP gene DOID:9005698 ZTTK Syndrome ISO RGD:1348097 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 11944672 MAPK7 mitogen-activated protein kinase 7 gene DOID:0050777 Joubert syndrome ISO RGD:1345735 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11944672 MAPK7 mitogen-activated protein kinase 7 gene DOID:0060250 idiopathic scoliosis ISO RGD:1345735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1 PMID:28714182 11944672 MAPK7 mitogen-activated protein kinase 7 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1345735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 11944672 MAPK7 mitogen-activated protein kinase 7 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1345735 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 11944672 MAPK7 mitogen-activated protein kinase 7 gene DOID:10283 prostate cancer ISO RGD:1345735 D RGD:9068941 20200609 RGD PMID:18071319|REF_RGD_ID:2298796 11944672 MAPK7 mitogen-activated protein kinase 7 gene DOID:12849 autistic disorder ISO RGD:1345735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11944672 MAPK7 mitogen-activated protein kinase 7 gene DOID:630 genetic disease ISO RGD:1345735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944672 MAPK7 mitogen-activated protein kinase 7 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1345735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 11944672 MAPK7 mitogen-activated protein kinase 7 gene DOID:9002170 Experimental Neoplasms ISO RGD:1345735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29507229 11944672 MAPK7 mitogen-activated protein kinase 7 gene DOID:9002211 Hyperalgesia ISO RGD:1345735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17237256 11944709 ACTL6A actin like 6A gene DOID:0050572 cone-rod dystrophy ISO RGD:1603412 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cone-rod degeneration PMID:25741868|PMID:28649782|PMID:30004997 11944709 ACTL6A actin like 6A gene DOID:0050840 cervical dystonia ISO RGD:1603412 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Torticollis PMID:25741868|PMID:28649782|PMID:30004997 11944709 ACTL6A actin like 6A gene DOID:0060320 inguinal hernia ISO RGD:1603412 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inguinal hernia PMID:25741868|PMID:28649782|PMID:30004997 11944709 ACTL6A actin like 6A gene DOID:0060321 umbilical hernia ISO RGD:1603412 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Umbilical hernia PMID:25741868|PMID:28649782|PMID:30004997 11944709 ACTL6A actin like 6A gene DOID:0111546 Currarino syndrome ISO RGD:1603412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11944709 ACTL6A actin like 6A gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1603412 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 11944709 ACTL6A actin like 6A gene DOID:1882 atrial heart septal defect ISO RGD:1603412 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868|PMID:28649782|PMID:30004997 11944709 ACTL6A actin like 6A gene DOID:630 genetic disease ISO RGD:1603412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944709 ACTL6A actin like 6A gene DOID:8534 gastroesophageal reflux disease ISO RGD:1603412 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gastroesophageal reflux PMID:25741868|PMID:28649782|PMID:30004997 11944709 ACTL6A actin like 6A gene DOID:9000727 Syncope ISO RGD:1603412 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Syncope PMID:25741868|PMID:28649782|PMID:30004997 11944709 ACTL6A actin like 6A gene DOID:9007921 Spina Bifida Cystica ISO RGD:1307747 D RGD:9068941 20200609 RGD PMID:23677776|REF_RGD_ID:9587760 11944709 ACTL6A actin like 6A gene DOID:9008086 Developmental Disabilities ISO RGD:1603412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28649782 11944727 RNF115 ring finger protein 115 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1313271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 11944727 RNF115 ring finger protein 115 gene DOID:1540 parathyroid carcinoma ISO RGD:1313271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11944727 RNF115 ring finger protein 115 gene DOID:5419 schizophrenia ISO RGD:1313271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11944727 RNF115 ring finger protein 115 gene DOID:630 genetic disease ISO RGD:1313271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944727 RNF115 ring finger protein 115 gene DOID:9008939 Breast Neoplasms ISO RGD:1313271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25751625 11944727 RNF115 ring finger protein 115 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11944744 SPRYD4 SPRY domain containing 4 gene DOID:630 genetic disease ISO RGD:1603522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944766 TSPAN15 tetraspanin 15 gene DOID:630 genetic disease ISO RGD:1351907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944783 APP amyloid beta precursor protein gene DOID:0050700 cardiomyopathy ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29068127 11944783 APP amyloid beta precursor protein gene DOID:0050850 diabetic encephalopathy treatment ISO RGD:2139 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:28885995|REF_RGD_ID:13782056 11944783 APP amyloid beta precursor protein gene DOID:0070027 CST3-related cerebral amyloid angiopathy ISO RGD:736021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary cerebral hemorrhage with amyloidosis PMID:25604855|PMID:25741868|PMID:28492532 11944783 APP amyloid beta precursor protein gene DOID:0070028 APP-related cerebral amyloid angiopathy ISO RGD:736021 D RGD:7240710 20180509 OMIM 11944783 APP amyloid beta precursor protein gene DOID:0070028 APP-related cerebral amyloid angiopathy ISO RGD:736021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AMYLOIDOSIS, CEREBROARTERIAL, APP-RELATED | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT | ClinVar Annotator: match by term: Cerebral amyloid angiopathy, APP-related PMID:10441572|PMID:10631141|PMID:10821838|PMID:11004129|PMID:11311152|PMID:11409420|PMID:11441013|PMID:11487570|PMID:11528419|PMID:11568920|PMID:11978821|PMID:12552037|PMID:12654973|PMID:1303172|PMID:1303239|PMID:1303275|PMID:1415269|PMID:14623725|PMID:1520398|PMID:15365148|PMID:15488330|PMID:15502844|PMID:15776278|PMID:16033913|PMID:16178030|PMID:1634237|PMID:1671712|PMID:1674311|PMID:1678057|PMID:1678058|PMID:1679288|PMID:1679289|PMID:16931535|PMID:18413473|PMID:19061884|PMID:1908231|PMID:19225789|PMID:1925564|PMID:19281847|PMID:19363265|PMID:20228223|PMID:20301414|PMID:20523046|PMID:20697050|PMID:2111584|PMID:21210284|PMID:22503161|PMID:23143229|PMID:23224319|PMID:23919771|PMID:24033266|PMID:24524897|PMID:24650794|PMID:24878480|PMID:25138979|PMID:25604855|PMID:25741868|PMID:25948718|PMID:26104569|PMID:26402770|PMID:26467025|PMID:26803359|PMID:27000221|PMID:27838006|PMID:27858710|PMID:28304299|PMID:28350801|PMID:28492532|PMID:29263818|PMID:29459625|PMID:29859640|PMID:30279455|PMID:30868685|PMID:31011484|PMID:32087291|PMID:32908482|PMID:7611715|PMID:8191290|PMID:8290965|PMID:8410047|PMID:8499923|PMID:8513318|PMID:8577393|PMID:8610157|PMID:8649577|PMID:8863158|PMID:8886002|PMID:9328472|PMID:9754958|PMID:9848098 11944783 APP amyloid beta precursor protein gene DOID:0080348 Alzheimer's disease 1 ISO RGD:736021 D RGD:7240710 20181017 OMIM 11944783 APP amyloid beta precursor protein gene DOID:0080348 Alzheimer's disease 1 ISO RGD:736021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: APP POLYMORPHISM | ClinVar Annotator: match by term: Alzheimer disease type 1 | ClinVar Annotator: match by term: Early-onset familial form of Alzheimer disease PMID:10097173|PMID:10441572|PMID:10611368|PMID:10631141|PMID:10821838|PMID:10867787|PMID:11004129|PMID:11063718|PMID:11311152|PMID:11487570|PMID:11528419|PMID:11568920|PMID:11910111|PMID:11978821|PMID:12034808|PMID:12552037|PMID:12707272|PMID:1303172|PMID:1303239|PMID:1303275|PMID:1415269|PMID:14623725|PMID:14769392|PMID:1520398|PMID:15365148|PMID:15488330|PMID:15502844|PMID:15668448|PMID:15776278|PMID:1584464|PMID:16033913|PMID:1634237|PMID:16505331|PMID:1671712|PMID:1674311|PMID:1678057|PMID:1678058|PMID:1679288|PMID:16931535|PMID:17493013|PMID:18187157|PMID:18234110|PMID:18413473|PMID:18437002|PMID:1908231|PMID:1925564|PMID:19281847|PMID:19363265|PMID:1944558|PMID:19950418|PMID:20005601|PMID:20063202|PMID:20301414|PMID:20452985|PMID:20523046|PMID:20634584|PMID:21210284|PMID:21777674|PMID:22503161|PMID:22702962|PMID:23143229|PMID:23224319|PMID:23380992|PMID:23515184|PMID:24033266|PMID:24390130|PMID:24524897|PMID:24650794|PMID:24677022|PMID:24694184|PMID:24880964|PMID:25138979|PMID:25741868|PMID:25948718|PMID:26402770|PMID:26444762|PMID:26467025|PMID:26803359|PMID:26888304|PMID:27777022|PMID:27838006|PMID:28304299|PMID:28350801|PMID:28492532|PMID:29263818|PMID:29459625|PMID:29770843|PMID:29859640|PMID:30045758|PMID:30279455|PMID:31011484|PMID:32087291|PMID:32908482|PMID:7611715|PMID:7686976|PMID:7806491|PMID:7845465|PMID:8154870|PMID:8191290|PMID:8290965|PMID:8410047|PMID:8461968|PMID:8499923|PMID:8513318|PMID:8577393|PMID:8644866|PMID:8649577|PMID:8650548|PMID:8863158|PMID:8886002|PMID:9328472|PMID:9754958|PMID:9848098 11944783 APP amyloid beta precursor protein gene DOID:0081292 traumatic brain injury treatment ISO RGD:736021 D RGD:9068941 20200609 RGD PMID:29320530|REF_RGD_ID:13782048 11944783 APP amyloid beta precursor protein gene DOID:10652 Alzheimer's disease ISO RGD:736021 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer disease, early onset | ClinVar Annotator: match by term: Alzheimer disease, protection against | ClinVar Annotator: match by term: Alzheimer's disease | ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease PMID:10441572|PMID:10611368|PMID:10631141|PMID:10821838|PMID:11004129|PMID:11063718|PMID:11311152|PMID:11409420|PMID:11441013|PMID:11487570|PMID:11528419|PMID:11568920|PMID:11735772|PMID:11910111|PMID:11978821|PMID:12034808|PMID:12552037|PMID:12654973|PMID:12707272|PMID:1303172|PMID:1303239|PMID:1303275|PMID:1307241|PMID:1415269|PMID:14623725|PMID:14769392|PMID:1520398|PMID:15365148|PMID:15488330|PMID:15502844|PMID:15776278|PMID:16033913|PMID:1634237|PMID:16369530|PMID:1671712|PMID:1674311|PMID:1678057|PMID:1678058|PMID:1679288|PMID:1679289|PMID:16921174|PMID:16931535|PMID:17576681|PMID:17873282|PMID:18187157|PMID:18234110|PMID:18413473|PMID:19061884|PMID:1908231|PMID:1925564|PMID:19281847|PMID:19286555|PMID:19363265|PMID:20228223|PMID:20301414|PMID:20452985|PMID:20523046|PMID:2111584|PMID:21210284|PMID:22312439|PMID:22491860|PMID:22503161|PMID:22801501|PMID:23143229|PMID:23224319|PMID:23919771|PMID:24033266|PMID:24524897|PMID:24650794|PMID:24680827|PMID:24691562|PMID:24878480|PMID:25104557|PMID:25138979|PMID:25174650|PMID:25604855|PMID:25617006|PMID:25741868|PMID:25948718|PMID:26104569|PMID:26242991|PMID:26402770|PMID:26467025|PMID:26803359|PMID:27000221|PMID:27312774|PMID:27838006|PMID:27858710|PMID:28304299|PMID:28350801|PMID:28492532|PMID:29263818|PMID:29459625|PMID:29859640|PMID:30279455|PMID:30868685|PMID:31011484|PMID:31719132|PMID:32087291|PMID:32345996|PMID:32908482|PMID:32917274|PMID:33268848|PMID:7588622|PMID:7611715|PMID:7633445|PMID:7686976|PMID:7806491|PMID:7845465|PMID:8191290|PMID:8290965|PMID:8291572|PMID:8410047|PMID:8499923|PMID:8513318|PMID:8577393|PMID:8610157|PMID:8649577|PMID:8863158|PMID:8886002|PMID:9328472|PMID:9536098|PMID:9754958|PMID:9848098 11944783 APP amyloid beta precursor protein gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:736021 D RGD:9068941 20200609 RGD PMID:16369530|REF_RGD_ID:1599199 11944783 APP amyloid beta precursor protein gene DOID:10652 Alzheimer's disease treatment ISO RGD:2139 D RGD:9068941 20200609 RGD associated with hypertension PMID:29568075|REF_RGD_ID:13782047 11944783 APP amyloid beta precursor protein gene DOID:10763 hypertension ISO RGD:2139 D RGD:9068941 20200609 RGD PMID:29713228|REF_RGD_ID:13703136 11944783 APP amyloid beta precursor protein gene DOID:10914 amnestic disorder ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12642396 11944783 APP amyloid beta precursor protein gene DOID:11758 iron deficiency anemia ISO RGD:2139 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus: PMID:18723004|REF_RGD_ID:2301196 11944783 APP amyloid beta precursor protein gene DOID:11832 visual epilepsy ISO RGD:736021 D RGD:9068941 20200609 RGD associated with Alzheimer Disease; PMID:25879152|REF_RGD_ID:10054263 11944783 APP amyloid beta precursor protein gene DOID:1289 neurodegenerative disease ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16122394|PMID:23541064 11944783 APP amyloid beta precursor protein gene DOID:1307 dementia ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22300406 11944783 APP amyloid beta precursor protein gene DOID:14261 fragile X syndrome ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22046307 11944783 APP amyloid beta precursor protein gene DOID:1561 cognitive disorder ISO RGD:736021 D RGD:9068941 20200609 RGD PMID:17536186|PMID:19101630|REF_RGD_ID:10054259|REF_RGD_ID:10054262 11944783 APP amyloid beta precursor protein gene DOID:1561 cognitive disorder ISO RGD:736021 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:17406652|PMID:17600377|PMID:21350020|PMID:24189446|PMID:26945731|PMID:32522471 11944783 APP amyloid beta precursor protein gene DOID:2030 anxiety disorder ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19664757 11944783 APP amyloid beta precursor protein gene DOID:319 spinal cord disease ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11800653 11944783 APP amyloid beta precursor protein gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2139 D RGD:9068941 20200609 RGD PMID:28963051|REF_RGD_ID:13782054 11944783 APP amyloid beta precursor protein gene DOID:630 genetic disease ISO RGD:736021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11944783 APP amyloid beta precursor protein gene DOID:824 periodontitis ISO RGD:736021 D RGD:9068941 20200609 RGD mRNA:increased expression:gingiva PMID:28285126|REF_RGD_ID:13801025 11944783 APP amyloid beta precursor protein gene DOID:8725 vascular dementia ISO RGD:736021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:22312439|PMID:25104557|PMID:25174650|PMID:25604855|PMID:26242991|PMID:26467025|PMID:27312774|PMID:28492532|PMID:33268848 11944783 APP amyloid beta precursor protein gene DOID:8927 learning disability ISO RGD:736021 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:16474004|PMID:18533140|PMID:20816828|PMID:22484447|PMID:25213453|PMID:26420483|PMID:27306655|PMID:29729307|PMID:35247505 11944783 APP amyloid beta precursor protein gene DOID:9000412 Presenile and Senile Dementia ISO RGD:736021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Presenile and senile dementia PMID:10821838|PMID:11004129|PMID:11311152|PMID:11409420|PMID:11441013|PMID:11528419|PMID:12654973|PMID:1303239|PMID:1303275|PMID:1415269|PMID:15365148|PMID:15488330|PMID:15502844|PMID:1679289|PMID:18413473|PMID:19061884|PMID:19363265|PMID:20228223|PMID:20301414|PMID:2111584|PMID:23143229|PMID:23224319|PMID:23919771|PMID:24033266|PMID:24524897|PMID:24650794|PMID:24878480|PMID:25741868|PMID:25948718|PMID:26104569|PMID:26402770|PMID:26467025|PMID:26803359|PMID:27000221|PMID:27858710|PMID:28304299|PMID:28350801|PMID:28492532|PMID:29263818|PMID:29459625|PMID:29859640|PMID:30279455|PMID:30868685|PMID:31011484|PMID:32087291|PMID:32908482|PMID:8499923|PMID:8610157|PMID:9754958|PMID:9848098 11944783 APP amyloid beta precursor protein gene DOID:9000998 Brain Injuries ISO RGD:736021 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:16300758|REF_RGD_ID:10054281 11944783 APP amyloid beta precursor protein gene DOID:9001020 Eye Manifestations ISO RGD:736021 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:35247505 11944783 APP amyloid beta precursor protein gene DOID:9001111 Blast Injuries ISO RGD:2139 D RGD:9068941 20200609 RGD PMID:24224042|REF_RGD_ID:10054251 11944783 APP amyloid beta precursor protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11944783 APP amyloid beta precursor protein gene DOID:9001579 Neurogenic Inflammation ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20816828|PMID:25288670 11944783 APP amyloid beta precursor protein gene DOID:9002644 Premature Aging ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23129026 11944783 APP amyloid beta precursor protein gene DOID:9002720 Splenomegaly ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27117003 11944783 APP amyloid beta precursor protein gene DOID:9002775 Cognitive Dysfunction ISO RGD:2139 D RGD:9068941 20200609 RGD associated with Chronic Cerebral Hypoperfusion PMID:28836062|REF_RGD_ID:13782057 11944783 APP amyloid beta precursor protein gene DOID:9002775 Cognitive Dysfunction ISO RGD:2139 D RGD:9068941 20200609 RGD associated with Sleep Deprivation PMID:28455102|REF_RGD_ID:13782059 11944783 APP amyloid beta precursor protein gene DOID:9002775 Cognitive Dysfunction ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25288670 11944783 APP amyloid beta precursor protein gene DOID:9002955 Nerve Degeneration ISO RGD:736021 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:11784781|PMID:11800653|PMID:12396081|PMID:12963085|PMID:16951259|PMID:17600377|PMID:19631677|PMID:20111991|PMID:20359466|PMID:23726866|PMID:23827522|PMID:33971107 11944783 APP amyloid beta precursor protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11944783 APP amyloid beta precursor protein gene DOID:9004657 Weight Gain ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11944783 APP amyloid beta precursor protein gene DOID:9005181 Multi-Infarct Dementia ISO RGD:736021 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid: PMID:1677459|REF_RGD_ID:10054257 11944783 APP amyloid beta precursor protein gene DOID:9005246 Paralysis ISO RGD:736021 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:16122394|PMID:18762355|PMID:21706413|PMID:22952840|PMID:28915354|PMID:33290254|PMID:34902447 11944783 APP amyloid beta precursor protein gene DOID:9005393 Alzheimer's Disease, Early-Onset, with Cerebral Amyloid Angiopathy ISO RGD:736021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy PMID:16369530|PMID:19047566 11944783 APP amyloid beta precursor protein gene DOID:9005749 Necrosis ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21839817 11944783 APP amyloid beta precursor protein gene DOID:9005832 Amyloid Plaques ISO RGD:736021 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:19818510|PMID:29729307|PMID:31939705|PMID:33096116 11944783 APP amyloid beta precursor protein gene DOID:9006118 Amyloid Angiopathy ISO RGD:736021 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:31939705 11944783 APP amyloid beta precursor protein gene DOID:9006205 Animal Disease Models ISO RGD:736021 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:12746438|PMID:16651627|PMID:25881725|PMID:27567873|PMID:31939705 11944783 APP amyloid beta precursor protein gene DOID:9006478 Amyloid Neuropathies ISO RGD:736021 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:27567873 11944783 APP amyloid beta precursor protein gene DOID:9006647 Experimental Autoimmune Neuritis treatment ISO RGD:2139 D RGD:9068941 20200609 RGD PMID:28446186|REF_RGD_ID:13782060 11944783 APP amyloid beta precursor protein gene DOID:9007402 Gliosis ISO RGD:736021 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:27567873 11944783 APP amyloid beta precursor protein gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:2139 D RGD:9068941 20200609 RGD protein:increased expression:cerebral white matter: PMID:11743996|REF_RGD_ID:10054250 11944783 APP amyloid beta precursor protein gene DOID:9008023 Memory Disorders ISO RGD:736021 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:15364477|PMID:18191838|PMID:18599028|PMID:19664757|PMID:19770021|PMID:20816828|PMID:22484447|PMID:23827522|PMID:24858312|PMID:25213453|PMID:25881725|PMID:26420483|PMID:26480858|PMID:27306655|PMID:27567873|PMID:28448946|PMID:29729307|PMID:35247505 11944783 APP amyloid beta precursor protein gene DOID:9009105 HIV Encephalitis ISO RGD:736021 D RGD:9068941 20200609 RGD PMID:29632166|REF_RGD_ID:13782045 11944783 APP amyloid beta precursor protein gene DOID:9120 amyloidosis ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23541064 11944783 APP amyloid beta precursor protein gene DOID:9246 cerebral amyloid angiopathy ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21520056 11944783 APP amyloid beta precursor protein gene DOID:936 brain disease ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11800653 11944783 APP amyloid beta precursor protein gene DOID:9970 obesity treatment ISO RGD:736021 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:adipocyte,plasma: PMID:19672057|REF_RGD_ID:10054260 11944804 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:0050336 hypophosphatemia ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19898264 11944804 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:13580 cholestasis disease_progression ISO RGD:69057 D RGD:9068941 20200609 RGD PMID:29204052|REF_RGD_ID:13782189 11944804 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:182 calcinosis ISO RGD:69105 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:30963258 11944804 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:1826 epilepsy treatment ISO RGD:69057 D RGD:9068941 20200609 RGD PMID:28303499|REF_RGD_ID:13524859 11944804 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:2383 neonatal jaundice ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22371261 11944804 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:299 adenocarcinoma ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21977915 11944804 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:3347 osteosarcoma ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17279585 11944804 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:630 genetic disease ISO RGD:69105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944804 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21977915 11944804 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29425287 11944804 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:9005369 Hepatomegaly ISO RGD:69105 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:23607986|PMID:32320717|PMID:36030841 11944804 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20869355 11944804 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19797606|PMID:28058446 11944804 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:69105 D RGD:9068941 20201225 RGD associated with tuberculosis ;DNA:SNP,haplotypes:promoter: (rs3814055) (human) PMID:31490979|REF_RGD_ID:40902984 11944804 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:9007456 Female Infertility ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23710174 11944804 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:9206 Barrett's esophagus ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21977915 11944804 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:9351 diabetes mellitus ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20869355 11944804 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:9452 fatty liver disease ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25182422 11944804 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:9970 obesity ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20869355 11944824 HERC5 HECT and RLD domain containing E3 ubiquitin protein ligase 5 gene DOID:289 endometriosis ISO RGD:1346007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11944824 HERC5 HECT and RLD domain containing E3 ubiquitin protein ligase 5 gene DOID:630 genetic disease ISO RGD:1346007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944824 HERC5 HECT and RLD domain containing E3 ubiquitin protein ligase 5 gene DOID:684 hepatocellular carcinoma ISO RGD:1346007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28919514 11944824 HERC5 HECT and RLD domain containing E3 ubiquitin protein ligase 5 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1346007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 11944824 HERC5 HECT and RLD domain containing E3 ubiquitin protein ligase 5 gene DOID:9001488 Human Influenza ISO RGD:1346007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11944904 LOC100973124 olfactory receptor 7E24 gene DOID:12849 autistic disorder ISO RGD:1351971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11944904 LOC100973124 olfactory receptor 7E24 gene DOID:630 genetic disease ISO RGD:1351971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944907 C6H6orf62 chromosome 6 C6orf62 homolog gene DOID:630 genetic disease ISO RGD:1347069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944920 TSPAN7 tetraspanin 7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11944920 TSPAN7 tetraspanin 7 gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1352570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 11944920 TSPAN7 tetraspanin 7 gene DOID:0112024 non-syndromic X-linked intellectual disability 58 ISO RGD:1352570 D RGD:7240710 20180130 OMIM 11944920 TSPAN7 tetraspanin 7 gene DOID:0112024 non-syndromic X-linked intellectual disability 58 ISO RGD:1352570 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 58 PMID:10655063|PMID:12376945|PMID:14735593|PMID:25741868|PMID:28492532 11944920 TSPAN7 tetraspanin 7 gene DOID:1059 intellectual disability ISO RGD:1352570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11944920 TSPAN7 tetraspanin 7 gene DOID:12849 autistic disorder ISO RGD:1352570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11944920 TSPAN7 tetraspanin 7 gene DOID:630 genetic disease ISO RGD:1352570 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11944920 TSPAN7 tetraspanin 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11944920 TSPAN7 tetraspanin 7 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1352570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 11944933 CCDC183 coiled-coil domain containing 183 gene DOID:0050777 Joubert syndrome ISO RGD:1350546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11944933 CCDC183 coiled-coil domain containing 183 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1350546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11944933 CCDC183 coiled-coil domain containing 183 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1350546 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11944933 CCDC183 coiled-coil domain containing 183 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1350546 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11944933 CCDC183 coiled-coil domain containing 183 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11944933 CCDC183 coiled-coil domain containing 183 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1350546 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11944933 CCDC183 coiled-coil domain containing 183 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1350546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 11944933 CCDC183 coiled-coil domain containing 183 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1350546 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11944933 CCDC183 coiled-coil domain containing 183 gene DOID:0081097 Rafiq syndrome ISO RGD:1350546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11944933 CCDC183 coiled-coil domain containing 183 gene DOID:3652 Leigh disease ISO RGD:1350546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11944933 CCDC183 coiled-coil domain containing 183 gene DOID:4990 essential tremor ISO RGD:1350546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 11944933 CCDC183 coiled-coil domain containing 183 gene DOID:630 genetic disease ISO RGD:1350546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944933 CCDC183 coiled-coil domain containing 183 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1350546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11944957 TFAP4 transcription factor AP-4 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1318080 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11944957 TFAP4 transcription factor AP-4 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1318080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 11944957 TFAP4 transcription factor AP-4 gene DOID:1059 intellectual disability ISO RGD:1318080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11944957 TFAP4 transcription factor AP-4 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1318080 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868 11944957 TFAP4 transcription factor AP-4 gene DOID:1682 congenital heart disease ISO RGD:1318080 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 11944957 TFAP4 transcription factor AP-4 gene DOID:1826 epilepsy ISO RGD:1318080 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11944957 TFAP4 transcription factor AP-4 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1318080 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11944957 TFAP4 transcription factor AP-4 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1318080 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 PMID:12114483|PMID:15706485|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 11944957 TFAP4 transcription factor AP-4 gene DOID:630 genetic disease ISO RGD:1318080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944968 C1H1orf87 chromosome 1 C1orf87 homolog gene DOID:1059 intellectual disability ISO RGD:1602983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11944968 C1H1orf87 chromosome 1 C1orf87 homolog gene DOID:630 genetic disease ISO RGD:1602983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944984 KAT2A lysine acetyltransferase 2A gene DOID:0080074 neural tube defect ISO RGD:1316320 D RGD:9068941 20200609 RGD DNA:missense mutations:exons:p.E568A, p.D609A (mouse) PMID:17325035|REF_RGD_ID:9590240 11944984 KAT2A lysine acetyltransferase 2A gene DOID:2043 hepatitis B treatment ISO RGD:1316320 D RGD:9068941 20200609 RGD PMID:23913178|REF_RGD_ID:9590262 11944984 KAT2A lysine acetyltransferase 2A gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1316319 D RGD:9068941 20200609 RGD PMID:23543735|REF_RGD_ID:9590260 11944984 KAT2A lysine acetyltransferase 2A gene DOID:630 genetic disease ISO RGD:1316319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11944984 KAT2A lysine acetyltransferase 2A gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1316320 D RGD:9068941 20200609 RGD protein:increased expression:retina (mouse) PMID:15932940|REF_RGD_ID:9590239 11945008 CD9 CD9 molecule gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:732702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11945008 CD9 CD9 molecule gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732702 D RGD:9068941 20200609 RGD PMID:14534881|REF_RGD_ID:2326207 11945008 CD9 CD9 molecule gene DOID:1380 endometrial cancer ISO RGD:732702 D RGD:9068941 20200609 RGD PMID:11505398|REF_RGD_ID:2326208 11945008 CD9 CD9 molecule gene DOID:2394 ovarian cancer disease_progression ISO RGD:732702 D RGD:9068941 20200609 RGD protein:decreased expression, altered localization:ovary PMID:12079303|REF_RGD_ID:2289405 11945008 CD9 CD9 molecule gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:732702 D RGD:9068941 20200609 RGD DNA, mRNA:deletion, point mutation, decreased expression:prostate gland PMID:17406028|REF_RGD_ID:2326197 11945008 CD9 CD9 molecule gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:732702 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:17393117|REF_RGD_ID:2289390 11945008 CD9 CD9 molecule gene DOID:2893 cervix carcinoma disease_progression ISO RGD:732702 D RGD:9068941 20200609 RGD PMID:14695144|REF_RGD_ID:2326206 11945008 CD9 CD9 molecule gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:732702 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 11945008 CD9 CD9 molecule gene DOID:3068 glioblastoma ISO RGD:732702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26573230 11945008 CD9 CD9 molecule gene DOID:3459 breast carcinoma disease_progression ISO RGD:732702 D RGD:9068941 20200609 RGD PMID:16132579|REF_RGD_ID:2326200 11945008 CD9 CD9 molecule gene DOID:3908 lung non-small cell carcinoma ISO RGD:732702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043644 11945008 CD9 CD9 molecule gene DOID:5082 liver cirrhosis ISO RGD:732702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 11945008 CD9 CD9 molecule gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:732702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16168501 11945008 CD9 CD9 molecule gene DOID:9002304 Prostatic Neoplasms ISO RGD:732702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11945008 CD9 CD9 molecule gene DOID:9002955 Nerve Degeneration ISO RGD:732702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19522546 11945008 CD9 CD9 molecule gene DOID:9007456 Female Infertility ISO RGD:732703 D RGD:9068941 20200609 RGD PMID:10634790|REF_RGD_ID:734730 11945008 CD9 CD9 molecule gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:732702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11945008 CD9 CD9 molecule gene DOID:9008443 Colorectal Neoplasms ISO RGD:732702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24836286 11945008 CD9 CD9 molecule gene DOID:9119 acute myeloid leukemia ISO RGD:732702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11945026 ZNF121 zinc finger protein 121 gene DOID:12849 autistic disorder ISO RGD:1342983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11945026 ZNF121 zinc finger protein 121 gene DOID:630 genetic disease ISO RGD:1342983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11945039 FKBP2 FKBP prolyl isomerase 2 gene DOID:630 genetic disease ISO RGD:1349147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11945061 ZNF585B zinc finger protein 585B gene DOID:630 genetic disease ISO RGD:1353931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11945082 CEP97 centrosomal protein 97 gene DOID:630 genetic disease ISO RGD:1343045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11945082 CEP97 centrosomal protein 97 gene DOID:9008086 Developmental Disabilities ISO RGD:1343045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:26539891 11945105 INO80B INO80 complex subunit B gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1347975 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11945105 INO80B INO80 complex subunit B gene DOID:543 dystonia ISO RGD:1347975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11945105 INO80B INO80 complex subunit B gene DOID:630 genetic disease ISO RGD:1347975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11945105 INO80B INO80 complex subunit B gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1347975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11945116 ACOD1 aconitate decarboxylase 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:2292071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11945133 ACOT9 acyl-CoA thioesterase 9 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11945133 ACOT9 acyl-CoA thioesterase 9 gene DOID:12849 autistic disorder ISO RGD:1606811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11945133 ACOT9 acyl-CoA thioesterase 9 gene DOID:630 genetic disease ISO RGD:1606811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11945133 ACOT9 acyl-CoA thioesterase 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606811 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11945133 ACOT9 acyl-CoA thioesterase 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11945168 TSSK1B testis specific serine kinase 1B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605025 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11945168 TSSK1B testis specific serine kinase 1B gene DOID:417 autoimmune disease ISO RGD:1552675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15140057 11945168 TSSK1B testis specific serine kinase 1B gene DOID:630 genetic disease ISO RGD:1605025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11945168 TSSK1B testis specific serine kinase 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11945168 TSSK1B testis specific serine kinase 1B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 11945168 TSSK1B testis specific serine kinase 1B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605025 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11945181 MECR mitochondrial trans-2-enoyl-CoA reductase gene DOID:5723 optic atrophy ISO RGD:733084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:17576681|PMID:25741868|PMID:27817865|PMID:28492532|PMID:31137067|PMID:32313153|PMID:32445240|PMID:9536098 11945181 MECR mitochondrial trans-2-enoyl-CoA reductase gene DOID:630 genetic disease ISO RGD:733084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11945181 MECR mitochondrial trans-2-enoyl-CoA reductase gene DOID:9003458 DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES ISO RGD:733084 D RGD:7240710 20190315 OMIM 11945181 MECR mitochondrial trans-2-enoyl-CoA reductase gene DOID:9003458 DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES ISO RGD:733084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities PMID:17576681|PMID:25741868|PMID:27817865|PMID:28492532|PMID:31137067|PMID:32313153|PMID:32445240|PMID:33401012|PMID:9536098 11945204 KPNA2 karyopherin subunit alpha 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1344039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11945204 KPNA2 karyopherin subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1344039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11945204 KPNA2 karyopherin subunit alpha 2 gene DOID:9006205 Animal Disease Models ISO RGD:1344039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11945219 KDM1B lysine demethylase 1B gene DOID:0060224 atrial fibrillation ISO RGD:1321760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 11945219 KDM1B lysine demethylase 1B gene DOID:630 genetic disease ISO RGD:1321760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11945219 KDM1B lysine demethylase 1B gene DOID:768 retinoblastoma ISO RGD:1321760 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (human) PMID:16180235|REF_RGD_ID:9588276 11945283 C2 complement C2 gene DOID:0050553 JMP syndrome ISO RGD:1353499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11945283 C2 complement C2 gene DOID:0060295 complement component 2 deficiency ISO RGD:1353499 D RGD:7240710 20180130 OMIM 11945283 C2 complement C2 gene DOID:0060295 complement component 2 deficiency ISO RGD:1353499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: C2 deficiency | ClinVar Annotator: match by term: C2 deficiency, type II | ClinVar Annotator: match by term: Complement component 2 deficiency PMID:1542325|PMID:1577763|PMID:16518403|PMID:16936732|PMID:17576681|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:24033266|PMID:24652797|PMID:25741868|PMID:28492532|PMID:31440263|PMID:31980526|PMID:32113979|PMID:33726816|PMID:34426522|PMID:34899688|PMID:6308626|PMID:8181962|PMID:8621452|PMID:9536098|PMID:9616367|PMID:9670930 11945283 C2 complement C2 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:16518403|PMID:16936732|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:24033266|PMID:24652797|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962 11945283 C2 complement C2 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:1577763|PMID:16199547|PMID:16518403|PMID:16936732|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:24033266|PMID:24652797|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962|PMID:9616367 11945283 C2 complement C2 gene DOID:0080600 COVID-19 ISO RGD:1353499 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11945283 C2 complement C2 gene DOID:0110026 age related macular degeneration 14 ISO RGD:1353499 D RGD:7240710 20180130 OMIM 11945283 C2 complement C2 gene DOID:0110026 age related macular degeneration 14 ISO RGD:1353499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 14 PMID:16518403|PMID:16936732|PMID:17576681|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:24033266|PMID:24652797|PMID:25741868|PMID:28492532|PMID:32113979|PMID:34899688|PMID:6308626|PMID:8181962|PMID:9536098|PMID:9670930 11945283 C2 complement C2 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1353499 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:16518403|PMID:16936732|PMID:18806293|PMID:21541267|PMID:2249879|PMID:24033266|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962 11945283 C2 complement C2 gene DOID:10223 dermatomyositis ISO RGD:1353499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3501473 11945283 C2 complement C2 gene DOID:10652 Alzheimer's disease ISO RGD:1353499 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :p.E318D (rs9332739) (human) PMID:22300950|REF_RGD_ID:7401250 11945283 C2 complement C2 gene DOID:10754 otitis media ISO RGD:10255 D RGD:9068941 20200609 RGD associated with Pneumococcal Infections PMID:20065024|REF_RGD_ID:7411716 11945283 C2 complement C2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1353499 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:16518403|PMID:16936732|PMID:18806293|PMID:21541267|PMID:2249879|PMID:24033266|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962 11945283 C2 complement C2 gene DOID:1407 anterior uveitis no_association ISO RGD:1353499 D RGD:9068941 20200609 RGD DNA:SNP: :rs3020644 (human) PMID:22714898|REF_RGD_ID:7411695 11945283 C2 complement C2 gene DOID:2772 irritant dermatitis ISO RGD:1353499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27258892 11945283 C2 complement C2 gene DOID:2986 IgA glomerulonephritis ISO RGD:1353499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 11945283 C2 complement C2 gene DOID:4448 macular degeneration ISO RGD:1353499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:1577763|PMID:16199547|PMID:16518403|PMID:16936732|PMID:17576681|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:24033266|PMID:24652797|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962|PMID:9536098|PMID:9616367 11945283 C2 complement C2 gene DOID:4448 macular degeneration no_association ISO RGD:1353499 D RGD:9068941 20200609 RGD DNA:missense mutation, snp:cds, intron:p.E318D, c.1360+62G>T (rs9332739, rs547154) (human) PMID:22273503|REF_RGD_ID:7411731 11945283 C2 complement C2 gene DOID:4448 macular degeneration no_association ISO RGD:1353499 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E318D (rs9332739) (human) PMID:19169232|PMID:23112567|REF_RGD_ID:7411691|REF_RGD_ID:7411693 11945283 C2 complement C2 gene DOID:4448 macular degeneration susceptibility ISO RGD:1353499 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:intron:c.1360+62G>T (rs547154) (human) PMID:18806293|REF_RGD_ID:7411713 11945283 C2 complement C2 gene DOID:4448 macular degeneration susceptibility ISO RGD:1353499 D RGD:9068941 20200609 RGD DNA:SNP:intron:c.1360+62G>T (rs547154) (human) PMID:22232432|REF_RGD_ID:7411694 11945283 C2 complement C2 gene DOID:4448 macular degeneration susceptibility ISO RGD:1353499 D RGD:9068941 20200609 RGD DNA:missense mutation, haplotype:cds:p.E318D (rs9332739) (human) PMID:23233260|REF_RGD_ID:7411720 11945283 C2 complement C2 gene DOID:4448 macular degeneration susceptibility ISO RGD:1353499 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:16518403|REF_RGD_ID:1600582 11945283 C2 complement C2 gene DOID:557 kidney disease ISO RGD:1353499 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 11945283 C2 complement C2 gene DOID:630 genetic disease ISO RGD:1353499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11945283 C2 complement C2 gene DOID:8893 psoriasis ISO RGD:1353499 D RGD:9068941 20200609 RGD DNA:polymorphism: :C2*2 (human) PMID:6559061|REF_RGD_ID:7411727 11945283 C2 complement C2 gene DOID:9005169 Complement Factor B Deficiency ISO RGD:1353499 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Complement factor b deficiency PMID:16518403|PMID:16936732|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:24033266|PMID:24652797|PMID:25741868|PMID:28492532 11945283 C2 complement C2 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:2231 D RGD:9068941 20201211 RGD DNA:SNP:exon: p.Glu318Asp (human) PMID:22610944|REF_RGD_ID:40886317 11945283 C2 complement C2 gene DOID:9008537 Polypoidal Choroidal Vasculopathy susceptibility ISO RGD:1353499 D RGD:9068941 20200609 RGD DNA:SNP:intron:c.1360+62G>T (rs547154) (human) PMID:22232432|REF_RGD_ID:7411694 11945283 C2 complement C2 gene DOID:9074 systemic lupus erythematosus ISO RGD:1353499 D RGD:9068941 20200609 RGD PMID:6409476|REF_RGD_ID:7421516 11945309 LEPROT leptin receptor overlapping transcript gene DOID:1059 intellectual disability ISO RGD:1353937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11945309 LEPROT leptin receptor overlapping transcript gene DOID:630 genetic disease ISO RGD:1353937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11945309 LEPROT leptin receptor overlapping transcript gene DOID:9004946 Leptin Receptor Deficiency ISO RGD:1353937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leptin receptor deficiency PMID:28492532 11945309 LEPROT leptin receptor overlapping transcript gene DOID:9970 obesity ISO RGD:1353937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity PMID:28492532 11945339 DEFB114 defensin beta 114 gene DOID:630 genetic disease ISO RGD:1348589 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11945353 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:0060041 autism spectrum disorder ISO RGD:1313295 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11945353 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1313295 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:16116617|PMID:17576681|PMID:18347291|PMID:19131948|PMID:19890349|PMID:23621129|PMID:24033266|PMID:25741868|PMID:26762237|PMID:27025581|PMID:28492532|PMID:29687370|PMID:31168818|PMID:31642606|PMID:31953843|PMID:33255364|PMID:33435499|PMID:33726816|PMID:34008892|PMID:34379964|PMID:9536098 11945353 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:0060656 autosomal recessive congenital ichthyosis 1 ISO RGD:1313295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21739938 11945353 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:0060710 autosomal recessive congenital ichthyosis 2 ISO RGD:1313295 D RGD:7240710 20180130 OMIM 11945353 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:0060710 autosomal recessive congenital ichthyosis 2 ISO RGD:1313295 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 PMID:11773004|PMID:16116617|PMID:16199547|PMID:17139268|PMID:17576681|PMID:18347291|PMID:18414213|PMID:19131948|PMID:19890349|PMID:20222929|PMID:22622417|PMID:23083690|PMID:23621129|PMID:24033266|PMID:25524567|PMID:25741868|PMID:25998749|PMID:26762237|PMID:26863999|PMID:27025581|PMID:28492532|PMID:29687370|PMID:31046801|PMID:31168818|PMID:31642606|PMID:31953843|PMID:33435499|PMID:33726816|PMID:34008892|PMID:34379964|PMID:35052464|PMID:9536098 11945353 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1313295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11945353 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:1313295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:28492532 11945353 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:12177 common variable immunodeficiency ISO RGD:1313295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11945353 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1313295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11945353 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:1697 ichthyosis ISO RGD:1313295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ichthyosis PMID:16116617|PMID:19131948|PMID:19890349|PMID:24033266|PMID:25741868|PMID:27025581|PMID:28492532|PMID:31168818|PMID:34008892 11945353 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:2729 dyskeratosis congenita ISO RGD:1313295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11945353 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:299 adenocarcinoma ISO RGD:1313295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 11945353 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1313295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 11945353 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:3910 lung adenocarcinoma ISO RGD:1313295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 11945353 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:4450 renal cell carcinoma ISO RGD:1313295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 11945353 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:4905 pancreatic carcinoma ISO RGD:1313295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 11945353 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:630 genetic disease ISO RGD:1313295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11945353 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 11945353 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:9002762 Ovarian Neoplasms ISO RGD:1313295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 11945353 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:9002928 Colonic Neoplasms ISO RGD:1313295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 11945353 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:9003124 Labrune Syndrome ISO RGD:1313295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts 11945353 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1313295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 11945376 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:733336 D RGD:9068941 20200609 RGD PMID:30100243|REF_RGD_ID:14695535 11945376 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:733336 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:27840945|REF_RGD_ID:14695545 11945376 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:0081329 glycogen storage disease I ISO RGD:736011 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency | ClinVar Annotator: match by term: Glycogen storage disease, type I PMID:10070617|PMID:10094563|PMID:10234610|PMID:10322403|PMID:10447271|PMID:10604148|PMID:10612834|PMID:10737986|PMID:10738525|PMID:10748407|PMID:10797430|PMID:10834516|PMID:10874313|PMID:10944847|PMID:10960498|PMID:11058903|PMID:11058910|PMID:11161844|PMID:11196115|PMID:11310582|PMID:11386847|PMID:11596659|PMID:11739393|PMID:11851840|PMID:11916325|PMID:11949931|PMID:12093795|PMID:12373566|PMID:12713862|PMID:15151508|PMID:15316959|PMID:15455297|PMID:15542400|PMID:15918042|PMID:16199547|PMID:16435186|PMID:17576681|PMID:17607665|PMID:17994282|PMID:18008183|PMID:18083610|PMID:18449899|PMID:19541498|PMID:19762333|PMID:19815695|PMID:20301489|PMID:20509832|PMID:20532819|PMID:21599942|PMID:2172641|PMID:21983240|PMID:22899091|PMID:22909800|PMID:23000067|PMID:23046672|PMID:23312056|PMID:23352793|PMID:23486339|PMID:24033266|PMID:24082139|PMID:24385852|PMID:24565827|PMID:24980439|PMID:25308557|PMID:25333069|PMID:25492228|PMID:25640679|PMID:25741868|PMID:27511118|PMID:28360385|PMID:28397058|PMID:28492532|PMID:28659124|PMID:29374762|PMID:29486517|PMID:29581464|PMID:29750741|PMID:29970488|PMID:30279644|PMID:30890478|PMID:30956637|PMID:31415093|PMID:31508908|PMID:32046761|PMID:32313153|PMID:32772503|PMID:33101979|PMID:33224545|PMID:33258288|PMID:33763395|PMID:34093448|PMID:34258141|PMID:7525963|PMID:7573034|PMID:7623438|PMID:7655466|PMID:7668282|PMID:7744838|PMID:7814621|PMID:8163185|PMID:8182131|PMID:8211187|PMID:8733042|PMID:8734807|PMID:9001800|PMID:9332655|PMID:9359038|PMID:9506659|PMID:9536098|PMID:9630072|PMID:9700612|PMID:9700613|PMID:9705299 11945376 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:11714 gestational diabetes ISO RGD:733336 D RGD:9068941 20200609 RGD protein:increased activity:liver PMID:12595588|REF_RGD_ID:2315965 11945376 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:2747 glycogen storage disease ISO RGD:736011 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Glycogen storage disease PMID:10070617|PMID:10612834|PMID:10738525|PMID:10834516|PMID:10874313|PMID:11058903|PMID:11310582|PMID:11739393|PMID:11949931|PMID:12093795|PMID:12373566|PMID:12713862|PMID:15316959|PMID:18008183|PMID:18449899|PMID:19541498|PMID:19762333|PMID:19815695|PMID:20301489|PMID:21599942|PMID:2172641|PMID:23312056|PMID:24033266|PMID:24082139|PMID:24385852|PMID:25308557|PMID:25333069|PMID:25741868|PMID:28397058|PMID:28492532|PMID:29486517|PMID:29750741|PMID:29970488|PMID:32313153|PMID:33101979|PMID:33224545|PMID:33763395|PMID:34093448|PMID:7573034|PMID:7623438|PMID:7744838|PMID:7814621|PMID:8182131|PMID:8211187|PMID:8733042|PMID:8734807|PMID:9332655 11945376 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:2749 glycogen storage disease Ia ISO RGD:736011 D RGD:7240710 20230505 OMIM 11945376 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:2749 glycogen storage disease Ia ISO RGD:736011 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GSD Ia | ClinVar Annotator: match by term: Hepatorenal glycogenosis PMID:10070617|PMID:10094563|PMID:10234610|PMID:10322403|PMID:10447271|PMID:10604148|PMID:10612834|PMID:10737986|PMID:10738525|PMID:10748407|PMID:10797430|PMID:10834516|PMID:10874313|PMID:10944847|PMID:10960498|PMID:11058903|PMID:11058910|PMID:11161844|PMID:11196115|PMID:11310582|PMID:11386847|PMID:11596659|PMID:11739393|PMID:11851840|PMID:11916325|PMID:11949931|PMID:12093795|PMID:12373566|PMID:12713862|PMID:15151508|PMID:15316959|PMID:15455297|PMID:15542400|PMID:15918042|PMID:16199547|PMID:16435186|PMID:17576681|PMID:17607665|PMID:17994282|PMID:18008183|PMID:18083610|PMID:18449899|PMID:19541498|PMID:19762333|PMID:19815695|PMID:20301489|PMID:20509832|PMID:20532819|PMID:21599942|PMID:2172641|PMID:21983240|PMID:22899091|PMID:22909800|PMID:23000067|PMID:23046672|PMID:23312056|PMID:23352793|PMID:23486339|PMID:24033266|PMID:24082139|PMID:24385852|PMID:24565827|PMID:24980439|PMID:25308557|PMID:25333069|PMID:25492228|PMID:25640679|PMID:25741868|PMID:27511118|PMID:28360385|PMID:28397058|PMID:28492532|PMID:28659124|PMID:29374762|PMID:29486517|PMID:29581464|PMID:29750741|PMID:29970488|PMID:30279644|PMID:30890478|PMID:30956637|PMID:31415093|PMID:31508908|PMID:32046761|PMID:32313153|PMID:32772503|PMID:33101979|PMID:33224545|PMID:33258288|PMID:33763395|PMID:34093448|PMID:34258141|PMID:7525963|PMID:7573034|PMID:7623438|PMID:7655466|PMID:7668282|PMID:7744838|PMID:7814621|PMID:8163185|PMID:8182131|PMID:8211187|PMID:8733042|PMID:8734807|PMID:9001800|PMID:9332655|PMID:9359038|PMID:9506659|PMID:9536098|PMID:9630072|PMID:9700612|PMID:9700613|PMID:9705299 11945376 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:2749 glycogen storage disease Ia treatment ISO RGD:736011 D RGD:9068941 20230406 RGD human gene in a mouse model PMID:20389290|REF_RGD_ID:14695538 11945376 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:630 genetic disease ISO RGD:736011 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10070617|PMID:10604148|PMID:10612834|PMID:10738525|PMID:10834516|PMID:10874313|PMID:11058903|PMID:11310582|PMID:11739393|PMID:11949931|PMID:12093795|PMID:12373566|PMID:12713862|PMID:15316959|PMID:18008183|PMID:18449899|PMID:19541498|PMID:19762333|PMID:19815695|PMID:20301489|PMID:20509832|PMID:21599942|PMID:2172641|PMID:23312056|PMID:24033266|PMID:24082139|PMID:24385852|PMID:24980439|PMID:25308557|PMID:25333069|PMID:25741868|PMID:28397058|PMID:28492532|PMID:29486517|PMID:29581464|PMID:29750741|PMID:29970488|PMID:30279644|PMID:30956637|PMID:32313153|PMID:33101979|PMID:33224545|PMID:33763395|PMID:34093448|PMID:34258141|PMID:7573034|PMID:7623438|PMID:7744838|PMID:7814621|PMID:8182131|PMID:8211187|PMID:8733042|PMID:8734807|PMID:9332655|PMID:9630072 11945376 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:736011 D RGD:9068941 20200609 RGD associated with Glycogen Storage Disease IA, human gene in a mouse model PMID:28096054|REF_RGD_ID:14695537 11945376 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736011 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11945376 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2644 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver (rat) PMID:23744881|REF_RGD_ID:14695550 11945376 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2644 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:15448092|REF_RGD_ID:2315963 11945376 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2644 D RGD:9068941 20200609 RGD protein:increased activity:liver, kidney PMID:16176150|REF_RGD_ID:2315960 11945376 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2644 D RGD:9068941 20200609 RGD PMID:27366200|REF_RGD_ID:14695533 11945376 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733336 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (mouse) PMID:28189721|REF_RGD_ID:14695531 11945376 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9007637 Glycogen Storage Disease IA ISO RGD:12418787 D RGD:9068941 20230506 OMIA Glycogen storage disease Ia PMID:11199168|PMID:12101432|PMID:18362924|PMID:19293457|PMID:20163245|PMID:21318173|PMID:21654821|PMID:22185325|PMID:22310927|PMID:23623482|PMID:29802554|PMID:30043186|PMID:31890731|PMID:33348688|PMID:34610166|PMID:36006546|PMID:37021039|PMID:8578635|PMID:9259982 11945376 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9007661 Dwarfism ISO RGD:736011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:10612834|PMID:10834516|PMID:10874313|PMID:11310582|PMID:11739393|PMID:12093795|PMID:12373566|PMID:12713862|PMID:15316959|PMID:18008183|PMID:18449899|PMID:20301489|PMID:21599942|PMID:2172641|PMID:23312056|PMID:24033266|PMID:24082139|PMID:24385852|PMID:25308557|PMID:25333069|PMID:25741868|PMID:28397058|PMID:28492532|PMID:29750741|PMID:32313153|PMID:33224545|PMID:33763395|PMID:34093448|PMID:7573034|PMID:7623438|PMID:7744838|PMID:7814621|PMID:8182131|PMID:8211187|PMID:8734807|PMID:9332655 11945376 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9007874 Liver Failure disease_progression ISO RGD:736011 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:24583248|REF_RGD_ID:14695536 11945376 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2644 D RGD:9068941 20200609 RGD PMID:16396963|REF_RGD_ID:2315959 11945376 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733336 D RGD:9068941 20200609 RGD PMID:8865366|REF_RGD_ID:728661 11945376 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736011 D RGD:9068941 20200609 RGD protein:increased activity:liver PMID:10866049|REF_RGD_ID:2315966 11945376 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9452 fatty liver disease ISO RGD:2644 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:29534506|REF_RGD_ID:14695544 11945376 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9993 hypoglycemia ISO RGD:736011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypoglycemia PMID:10612834|PMID:10834516|PMID:10874313|PMID:11310582|PMID:11739393|PMID:12093795|PMID:12373566|PMID:12713862|PMID:15316959|PMID:18008183|PMID:18449899|PMID:20301489|PMID:21599942|PMID:2172641|PMID:23312056|PMID:24033266|PMID:24082139|PMID:24385852|PMID:25308557|PMID:25333069|PMID:25741868|PMID:28397058|PMID:28492532|PMID:29750741|PMID:32313153|PMID:33224545|PMID:33763395|PMID:34093448|PMID:7573034|PMID:7623438|PMID:7744838|PMID:7814621|PMID:8182131|PMID:8211187|PMID:8734807|PMID:9332655 11945392 ZNF707 zinc finger protein 707 gene DOID:630 genetic disease ISO RGD:1603343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11945429 FAIM2 Fas apoptotic inhibitory molecule 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:628744 D RGD:9068941 20200609 RGD PMID:29208459|REF_RGD_ID:13792601 11945429 FAIM2 Fas apoptotic inhibitory molecule 2 gene DOID:630 genetic disease ISO RGD:1348169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11945445 CARMIL1 capping protein regulator and myosin 1 linker 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1315346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 11945445 CARMIL1 capping protein regulator and myosin 1 linker 1 gene DOID:630 genetic disease ISO RGD:1315346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11945494 NEURL3 neuralized E3 ubiquitin protein ligase 3 gene DOID:5419 schizophrenia ISO RGD:1605013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11945508 TRIM4 tripartite motif containing 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11945508 TRIM4 tripartite motif containing 4 gene DOID:630 genetic disease ISO RGD:1351905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11945521 SEMA3F semaphorin 3F gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 11945521 SEMA3F semaphorin 3F gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1318327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 11945521 SEMA3F semaphorin 3F gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 11945521 SEMA3F semaphorin 3F gene DOID:1921 Klinefelter syndrome ISO RGD:1318327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 11945521 SEMA3F semaphorin 3F gene DOID:630 genetic disease ISO RGD:1318327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11945521 SEMA3F semaphorin 3F gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1318327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11945521 SEMA3F semaphorin 3F gene DOID:9004538 Hearing Loss ISO RGD:1318327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 11945521 SEMA3F semaphorin 3F gene DOID:9007715 Endometrial Neoplasms ISO RGD:1318327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21933904 11945521 SEMA3F semaphorin 3F gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11945545 SRR serine racemase gene DOID:3910 lung adenocarcinoma ISO RGD:1352406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11945545 SRR serine racemase gene DOID:5419 schizophrenia ISO RGD:1550738 D RGD:9068941 20220825 MouseDO OMIM:181500 11945545 SRR serine racemase gene DOID:630 genetic disease ISO RGD:1352406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11945545 SRR serine racemase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11945545 SRR serine racemase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11945545 SRR serine racemase gene DOID:9006205 Animal Disease Models ISO RGD:1352406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11945563 SOX4 SRY-box transcription factor 4 gene DOID:0060058 lymphoma ISO RGD:1319855 D RGD:9068941 20200609 RGD PMID:15231650|REF_RGD_ID:1581305 11945563 SOX4 SRY-box transcription factor 4 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1319854 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11945563 SOX4 SRY-box transcription factor 4 gene DOID:0112371 Coffin-Siris syndrome 10 ISO RGD:1319854 D RGD:7240710 20190731 OMIM 11945563 SOX4 SRY-box transcription factor 4 gene DOID:0112371 Coffin-Siris syndrome 10 ISO RGD:1319854 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 10 PMID:25741868|PMID:30661772|PMID:35232796 11945563 SOX4 SRY-box transcription factor 4 gene DOID:1059 intellectual disability ISO RGD:1319854 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild PMID:30661772 11945563 SOX4 SRY-box transcription factor 4 gene DOID:11054 urinary bladder cancer ISO RGD:1319854 D RGD:9068941 20200609 RGD PMID:16585165|REF_RGD_ID:1581304 11945563 SOX4 SRY-box transcription factor 4 gene DOID:114 heart disease ISO RGD:1319855 D RGD:9068941 20200609 RGD PMID:9815146|REF_RGD_ID:1581306 11945563 SOX4 SRY-box transcription factor 4 gene DOID:1923 disorder of sexual development ISO RGD:1319854 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 11945563 SOX4 SRY-box transcription factor 4 gene DOID:3459 breast carcinoma ISO RGD:1319854 D RGD:9068941 20220728 RGD protein:increased expression:breast PMID:29882245|REF_RGD_ID:153297792 11945563 SOX4 SRY-box transcription factor 4 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1319854 D RGD:9068941 20220728 RGD PMID:16052521|REF_RGD_ID:153297793 11945563 SOX4 SRY-box transcription factor 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1319854 D RGD:9068941 20220728 RGD protein:increased expression:lung PMID:29882245|REF_RGD_ID:153297792 11945563 SOX4 SRY-box transcription factor 4 gene DOID:6000 congestive heart failure ISO RGD:1319854 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11945563 SOX4 SRY-box transcription factor 4 gene DOID:630 genetic disease ISO RGD:1319854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11945563 SOX4 SRY-box transcription factor 4 gene DOID:9001041 Asphyxia ISO RGD:1309488 D RGD:9068941 20200609 RGD PMID:12011571|REF_RGD_ID:1581119 11945563 SOX4 SRY-box transcription factor 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319854 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11945563 SOX4 SRY-box transcription factor 4 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1319854 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147764 11945563 SOX4 SRY-box transcription factor 4 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1319854 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11945563 SOX4 SRY-box transcription factor 4 gene DOID:9003936 Cardiomegaly ISO RGD:1319854 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11945563 SOX4 SRY-box transcription factor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319854 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11945576 DZIP3 DAZ interacting zinc finger protein 3 gene DOID:630 genetic disease ISO RGD:1602727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11945626 ZBTB47 zinc finger and BTB domain containing 47 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1343623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 11945626 ZBTB47 zinc finger and BTB domain containing 47 gene DOID:1826 epilepsy ISO RGD:1343623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11945626 ZBTB47 zinc finger and BTB domain containing 47 gene DOID:630 genetic disease ISO RGD:1343623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11945667 SETD6 SET domain containing 6, protein lysine methyltransferase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605343 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11945667 SETD6 SET domain containing 6, protein lysine methyltransferase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605343 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11945667 SETD6 SET domain containing 6, protein lysine methyltransferase gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605343 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11945667 SETD6 SET domain containing 6, protein lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1605343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11945677 SPATC1 spermatogenesis and centriole associated 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1344287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11945677 SPATC1 spermatogenesis and centriole associated 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1344287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11945677 SPATC1 spermatogenesis and centriole associated 1 gene DOID:4621 holoprosencephaly ISO RGD:1344287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11945677 SPATC1 spermatogenesis and centriole associated 1 gene DOID:630 genetic disease ISO RGD:1344287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11945693 TMEM232 transmembrane protein 232 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:3029048 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11945693 TMEM232 transmembrane protein 232 gene DOID:630 genetic disease ISO RGD:3029048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11945693 TMEM232 transmembrane protein 232 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:3029048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11945693 TMEM232 transmembrane protein 232 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:3029048 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11945711 SNUPN snurportin 1 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1353124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 11945711 SNUPN snurportin 1 gene DOID:1826 epilepsy ISO RGD:1353124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11945711 SNUPN snurportin 1 gene DOID:2717 Bloom syndrome ISO RGD:1353124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11945711 SNUPN snurportin 1 gene DOID:5419 schizophrenia ISO RGD:1353124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11945711 SNUPN snurportin 1 gene DOID:630 genetic disease ISO RGD:1353124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11945711 SNUPN snurportin 1 gene DOID:9256 colorectal cancer ISO RGD:1353124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11945738 DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1347817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 11945738 DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 gene DOID:10283 prostate cancer ISO RGD:1347817 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:25466870|PMID:28940199 11945738 DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 gene DOID:630 genetic disease ISO RGD:1347817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11945738 DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 gene DOID:9000609 Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus ISO RGD:1347817 D RGD:7240710 20180130 OMIM 11945738 DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 gene DOID:9000609 Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus ISO RGD:1347817 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus PMID:25466870|PMID:25741868|PMID:28940199|PMID:32738013|PMID:33486469 11945738 DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11945738 DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1347817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11945756 PDLIM2 PDZ and LIM domain 2 gene DOID:630 genetic disease ISO RGD:1345506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11945756 PDLIM2 PDZ and LIM domain 2 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1345506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 11945782 RAC1 Rac family small GTPase 1 gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:1605432 D RGD:9068941 20220922 RGD mRNA, protein:increased expression:colorectum (human) PMID:30926638|REF_RGD_ID:155230818 11945782 RAC1 Rac family small GTPase 1 gene DOID:0050912 colon adenoma ISO RGD:1605432 D RGD:9068941 20200609 RGD PMID:12865273|REF_RGD_ID:13432048 11945782 RAC1 Rac family small GTPase 1 gene DOID:0080199 colorectal carcinoma ameliorates ISO RGD:1605432 D RGD:9068941 20220908 RGD human cell line in a mouse model PMID:23559092|REF_RGD_ID:153350124 11945782 RAC1 Rac family small GTPase 1 gene DOID:0080199 colorectal carcinoma exacerbates ISO RGD:1605432 D RGD:9068941 20220804 RGD protein:increased expression:colorectum (human) PMID:30064309|REF_RGD_ID:153298972 11945782 RAC1 Rac family small GTPase 1 gene DOID:0080199 colorectal carcinoma exacerbates ISO RGD:1605432 D RGD:9068941 20220909 RGD protein:increased activity:colorectal mucosa (human) PMID:25529012|REF_RGD_ID:153350139 11945782 RAC1 Rac family small GTPase 1 gene DOID:0080235 autosomal dominant intellectual developmental disorder 48 ISO RGD:1605432 D RGD:7240710 20190315 OMIM 11945782 RAC1 Rac family small GTPase 1 gene DOID:0080235 autosomal dominant intellectual developmental disorder 48 ISO RGD:1605432 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 PMID:25741868|PMID:25741888|PMID:28492532|PMID:28886345|PMID:30042656|PMID:32860008|PMID:35139179 11945782 RAC1 Rac family small GTPase 1 gene DOID:10534 stomach cancer exacerbates ISO RGD:1605432 D RGD:9068941 20220908 RGD protein:increased expression:mucosa of stomach (human) PMID:23298303|REF_RGD_ID:153350128 11945782 RAC1 Rac family small GTPase 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1605432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16155095 11945782 RAC1 Rac family small GTPase 1 gene DOID:1324 lung cancer treatment ISO RGD:1605432 D RGD:9068941 20220922 RGD DNA:SNPs:enhancers, intron: (rs836554, rs4720672, rs12536544) (human) PMID:27299748|REF_RGD_ID:155230814 11945782 RAC1 Rac family small GTPase 1 gene DOID:1612 breast cancer ISO RGD:1605432 D RGD:9068941 20220922 RGD protein:increased expression:breast (human) PMID:22345078|REF_RGD_ID:155230815 11945782 RAC1 Rac family small GTPase 1 gene DOID:1612 breast cancer exacerbates ISO RGD:1605432 D RGD:9068941 20220818 RGD protein:increased expression:breast (human) PMID:25557791|REF_RGD_ID:153323321 11945782 RAC1 Rac family small GTPase 1 gene DOID:1909 melanoma ISO RGD:1605432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:25056119|PMID:26619011 11945782 RAC1 Rac family small GTPase 1 gene DOID:234 colon adenocarcinoma ISO RGD:1605432 D RGD:9068941 20200609 RGD mRNA:alternative form PMID:10597294|REF_RGD_ID:13432049 11945782 RAC1 Rac family small GTPase 1 gene DOID:234 colon adenocarcinoma treatment ISO RGD:1605432 D RGD:9068941 20200609 RGD PMID:19561401|REF_RGD_ID:13432051 11945782 RAC1 Rac family small GTPase 1 gene DOID:3495 extrahepatic bile duct adenocarcinoma ISO RGD:1605432 D RGD:9068941 20220908 RGD protein:increased expression:mucosa (human) PMID:21537609|REF_RGD_ID:153350126 11945782 RAC1 Rac family small GTPase 1 gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:1553531 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas (mouse) PMID:21684285|REF_RGD_ID:14392816 11945782 RAC1 Rac family small GTPase 1 gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:1605432 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (human) PMID:23334332|REF_RGD_ID:14392806 11945782 RAC1 Rac family small GTPase 1 gene DOID:363 uterine cancer ISO RGD:1605432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:25056119|PMID:26619011 11945782 RAC1 Rac family small GTPase 1 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:1605432 D RGD:9068941 20220811 RGD protein:increased expression:stomach (human) PMID:23485997|REF_RGD_ID:153300951 11945782 RAC1 Rac family small GTPase 1 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1316840 D RGD:9068941 20220908 RGD PMID:32366477|REF_RGD_ID:153345550 11945782 RAC1 Rac family small GTPase 1 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1605432 D RGD:9068941 20220707 RGD mRNA:increased expression:lung (human) PMID:31779616|REF_RGD_ID:152998910 11945782 RAC1 Rac family small GTPase 1 gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:1605432 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:21037555|REF_RGD_ID:14392805 11945782 RAC1 Rac family small GTPase 1 gene DOID:409 liver disease ISO RGD:1605432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17058265 11945782 RAC1 Rac family small GTPase 1 gene DOID:4948 gallbladder carcinoma exacerbates ISO RGD:1605432 D RGD:9068941 20220922 RGD protein:increased expression:gallbladder (human) PMID:21853342|REF_RGD_ID:155230819 11945782 RAC1 Rac family small GTPase 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1605432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma PMID:25056119|PMID:26619011 11945782 RAC1 Rac family small GTPase 1 gene DOID:6000 congestive heart failure ISO RGD:1605432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16155095 11945782 RAC1 Rac family small GTPase 1 gene DOID:6000 congestive heart failure ISO RGD:619755 D RGD:9068941 20200609 RGD PMID:12642504|REF_RGD_ID:1581295 11945782 RAC1 Rac family small GTPase 1 gene DOID:630 genetic disease ISO RGD:1605432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11945782 RAC1 Rac family small GTPase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1605432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18506888 11945782 RAC1 Rac family small GTPase 1 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1605432 D RGD:9068941 20220804 RGD mRNA:increased expression:liver (human) PMID:33482578|REF_RGD_ID:153298967 11945782 RAC1 Rac family small GTPase 1 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1605432 D RGD:9068941 20220908 RGD protein:increased expression:liver (human) PMID:20522449|REF_RGD_ID:153350129 11945782 RAC1 Rac family small GTPase 1 gene DOID:8923 skin melanoma ISO RGD:1605432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:25056119|PMID:26619011 11945782 RAC1 Rac family small GTPase 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1605432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18506888 11945782 RAC1 Rac family small GTPase 1 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1605432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28710503 11945782 RAC1 Rac family small GTPase 1 gene DOID:9002371 Cardiotoxicity ISO RGD:1605432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28710503 11945782 RAC1 Rac family small GTPase 1 gene DOID:9003936 Cardiomegaly ISO RGD:1553531 D RGD:9068941 20200609 RGD PMID:16651530|PMID:16698001|REF_RGD_ID:1581293|REF_RGD_ID:1581294 11945782 RAC1 Rac family small GTPase 1 gene DOID:9004484 Sepsis ISO RGD:1605432 D RGD:9068941 20220707 RGD mRNA:increased expression:blood serum (human) PMID:33174038|REF_RGD_ID:152998912 11945782 RAC1 Rac family small GTPase 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:619755 D RGD:9068941 20200609 RGD PMID:12642504|REF_RGD_ID:1581295 11945782 RAC1 Rac family small GTPase 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1605432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22011395 11945782 RAC1 Rac family small GTPase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1605432 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741888|PMID:28886345 11945782 RAC1 Rac family small GTPase 1 gene DOID:9008582 Developmental Disease ISO RGD:1605432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11945782 RAC1 Rac family small GTPase 1 gene DOID:9009097 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies ISO RGD:1605432 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies PMID:25741868|PMID:28886345 11945782 RAC1 Rac family small GTPase 1 gene DOID:9256 colorectal cancer ISO RGD:1605432 D RGD:9068941 20200609 RGD PMID:17597401|REF_RGD_ID:13432052 11945782 RAC1 Rac family small GTPase 1 gene DOID:9256 colorectal cancer ameliorates ISO RGD:1605432 D RGD:9068941 20220707 RGD human cell line in a mouse model PMID:29884911|REF_RGD_ID:152998911 11945782 RAC1 Rac family small GTPase 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1605432 D RGD:9068941 20200609 RGD mRNA:alternative form PMID:24833563|REF_RGD_ID:13432050 11945782 RAC1 Rac family small GTPase 1 gene DOID:9261 nasopharynx carcinoma exacerbates ISO RGD:1605432 D RGD:9068941 20220908 RGD protein:increased expression:nasopharynx (human) PMID:19506399|REF_RGD_ID:153350125 11945782 RAC1 Rac family small GTPase 1 gene DOID:9351 diabetes mellitus ISO RGD:1605432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23723366 11945793 NCR3 natural cytotoxicity triggering receptor 3 gene DOID:0050553 JMP syndrome ISO RGD:1353948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11945793 NCR3 natural cytotoxicity triggering receptor 3 gene DOID:0080600 COVID-19 ISO RGD:1353948 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11945793 NCR3 natural cytotoxicity triggering receptor 3 gene DOID:11372 megacolon ISO RGD:1353948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11945793 NCR3 natural cytotoxicity triggering receptor 3 gene DOID:12365 malaria ISO RGD:1353948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malaria, severe, susceptibility to PMID:17208487 11945793 NCR3 natural cytotoxicity triggering receptor 3 gene DOID:12365 malaria susceptibility ISO RGD:1353948 D RGD:7240710 20190502 OMIM 11945793 NCR3 natural cytotoxicity triggering receptor 3 gene DOID:1883 hepatitis C disease_progression ISO RGD:1353948 D RGD:9068941 20201112 RGD protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:17553896|REF_RGD_ID:40400745 11945793 NCR3 natural cytotoxicity triggering receptor 3 gene DOID:630 genetic disease ISO RGD:1353948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11945793 NCR3 natural cytotoxicity triggering receptor 3 gene DOID:635 acquired immunodeficiency syndrome ISO RGD:1353948 D RGD:9068941 20201117 RGD protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) PMID:27382604|REF_RGD_ID:40818276 11945793 NCR3 natural cytotoxicity triggering receptor 3 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1353948 D RGD:9068941 20201112 RGD protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:20550548|REF_RGD_ID:40818079 11945793 NCR3 natural cytotoxicity triggering receptor 3 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1353948 D RGD:9068941 20201118 RGD protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:23813131|REF_RGD_ID:40818297 11945793 NCR3 natural cytotoxicity triggering receptor 3 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1353948 D RGD:9068941 20201106 RGD protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:21168454|REF_RGD_ID:40400738 11945793 NCR3 natural cytotoxicity triggering receptor 3 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1353948 D RGD:9068941 20201118 RGD PMID:16322112|PMID:21695691|REF_RGD_ID:40818295|REF_RGD_ID:40818296 11945815 RAN RAN, member RAS oncogene family gene DOID:11446 sciatic neuropathy ISO RGD:620367 D RGD:9068941 20200609 RGD PMID:18667152|REF_RGD_ID:9835000 11945815 RAN RAN, member RAS oncogene family gene DOID:305 carcinoma ISO RGD:1348006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 11945815 RAN RAN, member RAS oncogene family gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1348006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11945815 RAN RAN, member RAS oncogene family gene DOID:8398 osteoarthritis ISO RGD:1348006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11945815 RAN RAN, member RAS oncogene family gene DOID:9000058 Keloid ISO RGD:1348006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 11945815 RAN RAN, member RAS oncogene family gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1348006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 11945815 RAN RAN, member RAS oncogene family gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1348006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 11945815 RAN RAN, member RAS oncogene family gene DOID:9744 type 1 diabetes mellitus ISO RGD:1348006 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:22114719|REF_RGD_ID:9835390 11945825 BLVRA biliverdin reductase A gene DOID:0080600 COVID-19 ISO RGD:733010 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11945825 BLVRA biliverdin reductase A gene DOID:13580 cholestasis ISO RGD:733010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18706437 11945825 BLVRA biliverdin reductase A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11945825 BLVRA biliverdin reductase A gene DOID:630 genetic disease ISO RGD:733010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11945825 BLVRA biliverdin reductase A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11945825 BLVRA biliverdin reductase A gene DOID:9008068 Hyperbiliverdinemia ISO RGD:733010 D RGD:7240710 20180130 OMIM 11945825 BLVRA biliverdin reductase A gene DOID:9008068 Hyperbiliverdinemia ISO RGD:733010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperbiliverdinemia PMID:19580635|PMID:21278388|PMID:25741868 11945845 MLKL mixed lineage kinase domain like pseudokinase gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:1352072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:25741868 11945845 MLKL mixed lineage kinase domain like pseudokinase gene DOID:0060645 chronic recurrent multifocal osteomyelitis ISO RGD:1352072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic multifocal osteomyelitis 11945845 MLKL mixed lineage kinase domain like pseudokinase gene DOID:607 paraplegia ISO RGD:1352072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11945845 MLKL mixed lineage kinase domain like pseudokinase gene DOID:630 genetic disease ISO RGD:1352072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11945845 MLKL mixed lineage kinase domain like pseudokinase gene DOID:856 biotinidase deficiency ISO RGD:1352072 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Biotinidase deficiency PMID:25741868 11945845 MLKL mixed lineage kinase domain like pseudokinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11945862 PCDH1 protocadherin 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318287 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11945862 PCDH1 protocadherin 1 gene DOID:630 genetic disease ISO RGD:1318287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11945862 PCDH1 protocadherin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11945862 PCDH1 protocadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318287 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11945862 PCDH1 protocadherin 1 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1318287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 11945878 HDAC3 histone deacetylase 3 gene DOID:0070227 intrahepatic cholestasis of pregnancy severity ISO RGD:731326 D RGD:9068941 20200609 RGD PMID:28697498|REF_RGD_ID:14696655 11945878 HDAC3 histone deacetylase 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731326 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11945878 HDAC3 histone deacetylase 3 gene DOID:10286 prostate carcinoma ISO RGD:731326 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18212746|REF_RGD_ID:2306214 11945878 HDAC3 histone deacetylase 3 gene DOID:114 heart disease ISO RGD:731326 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18625706 11945878 HDAC3 histone deacetylase 3 gene DOID:12858 Huntington's disease ISO RGD:731327 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:22965876|REF_RGD_ID:10402189 11945878 HDAC3 histone deacetylase 3 gene DOID:12858 Huntington's disease ISO RGD:731327 D RGD:9068941 20200609 RGD protein:increased expression:striatum: PMID:22918830|REF_RGD_ID:9590098 11945878 HDAC3 histone deacetylase 3 gene DOID:1875 impotence ISO RGD:619977 D RGD:9068941 20200609 RGD protein:increased expression:penis: PMID:24636283|REF_RGD_ID:9590194 11945878 HDAC3 histone deacetylase 3 gene DOID:1909 melanoma ISO RGD:731327 D RGD:9068941 20200609 RGD associated with Anaphylaxis; PMID:24619412|REF_RGD_ID:9590165 11945878 HDAC3 histone deacetylase 3 gene DOID:2394 ovarian cancer ISO RGD:731326 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:17387270|REF_RGD_ID:2306215 11945878 HDAC3 histone deacetylase 3 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:731326 D RGD:9068941 20200609 RGD PMID:18714364|REF_RGD_ID:2306205 11945878 HDAC3 histone deacetylase 3 gene DOID:289 endometriosis ISO RGD:731327 D RGD:9068941 20220825 MouseDO OMIM:131200 11945878 HDAC3 histone deacetylase 3 gene DOID:299 adenocarcinoma ISO RGD:731326 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 11945878 HDAC3 histone deacetylase 3 gene DOID:3021 acute kidney failure ISO RGD:619977 D RGD:9068941 20200609 RGD PMID:21416250|REF_RGD_ID:10047111 11945878 HDAC3 histone deacetylase 3 gene DOID:3070 high grade glioma ISO RGD:731326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11945878 HDAC3 histone deacetylase 3 gene DOID:3070 high grade glioma disease_progression ISO RGD:731326 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brain: PMID:23685192|REF_RGD_ID:9590201 11945878 HDAC3 histone deacetylase 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:731326 D RGD:9068941 20200609 RGD PMID:24482232|REF_RGD_ID:9588265 11945878 HDAC3 histone deacetylase 3 gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:731326 D RGD:9068941 20200609 RGD PMID:18714364|REF_RGD_ID:2306205 11945878 HDAC3 histone deacetylase 3 gene DOID:630 genetic disease ISO RGD:731326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10490031|PMID:17956988|PMID:24268577 11945878 HDAC3 histone deacetylase 3 gene DOID:6432 pulmonary hypertension ISO RGD:731326 D RGD:9068941 20200609 RGD protein:decreased expression:lung: PMID:22711276|REF_RGD_ID:9590133 11945878 HDAC3 histone deacetylase 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:731326 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 11945878 HDAC3 histone deacetylase 3 gene DOID:9000784 Fibrosis ISO RGD:619977 D RGD:9068941 20200609 RGD protein:increased expression:penis: PMID:24636283|REF_RGD_ID:9590194 11945878 HDAC3 histone deacetylase 3 gene DOID:9000918 Disease Progression ISO RGD:731326 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 11945878 HDAC3 histone deacetylase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731326 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 11945878 HDAC3 histone deacetylase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731327 D RGD:9068941 20200609 RGD associated with Anaphylaxis; PMID:24619412|REF_RGD_ID:9590165 11945878 HDAC3 histone deacetylase 3 gene DOID:9001981 Weight Loss ISO RGD:731326 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 11945878 HDAC3 histone deacetylase 3 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:619977 D RGD:9068941 20200609 RGD protein:decreased expression:brain: PMID:23716065|REF_RGD_ID:9588620 11945878 HDAC3 histone deacetylase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11945878 HDAC3 histone deacetylase 3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731326 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 11945878 HDAC3 histone deacetylase 3 gene DOID:9006646 Metabolic Syndrome ISO RGD:619977 D RGD:9068941 20200609 RGD PMID:21763752|REF_RGD_ID:9590183 11945878 HDAC3 histone deacetylase 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731326 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11945878 HDAC3 histone deacetylase 3 gene DOID:9007278 Anaphylaxis ISO RGD:731327 D RGD:9068941 20200609 RGD PMID:24619412|REF_RGD_ID:9590165 11945878 HDAC3 histone deacetylase 3 gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:731327 D RGD:9068941 20230209 RGD PMID:33982231|REF_RGD_ID:155883171 11945878 HDAC3 histone deacetylase 3 gene DOID:9256 colorectal cancer ISO RGD:731326 D RGD:9068941 20200609 RGD mRNA:increased expression:colon: PMID:23724067|REF_RGD_ID:9590193 11945878 HDAC3 histone deacetylase 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:731326 D RGD:9068941 20200609 RGD protein:decreased expression:pancreatic beta cell: PMID:22772764|REF_RGD_ID:9590127 11945897 VSIG10 V-set and immunoglobulin domain containing 10 gene DOID:630 genetic disease ISO RGD:1607028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11945916 ANKRD62 ankyrin repeat domain 62 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:2302254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11945916 ANKRD62 ankyrin repeat domain 62 gene DOID:1059 intellectual disability ISO RGD:2302254 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11945916 ANKRD62 ankyrin repeat domain 62 gene DOID:543 dystonia ISO RGD:2302254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 11945934 RNF17 ring finger protein 17 gene DOID:0050569 Seckel syndrome ISO RGD:1321415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seckel syndrome 11945934 RNF17 ring finger protein 17 gene DOID:0070010 Seckel syndrome 4 ISO RGD:1321415 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seckel syndrome 4 PMID:18414213|PMID:20301772|PMID:20522431|PMID:24402816|PMID:25741868|PMID:26467025|PMID:28492532 11945934 RNF17 ring finger protein 17 gene DOID:0070012 Seckel syndrome 5 ISO RGD:1321415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seckel syndrome 5 11945934 RNF17 ring finger protein 17 gene DOID:0070285 primary autosomal recessive microcephaly 1 ISO RGD:1321415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:25741868 11945934 RNF17 ring finger protein 17 gene DOID:0070290 primary autosomal recessive microcephaly 6 ISO RGD:1321415 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microcephaly 6, primary, autosomal recessive PMID:15793586|PMID:18414213|PMID:20301772|PMID:24402816|PMID:25741868|PMID:26467025|PMID:28492532 11945934 RNF17 ring finger protein 17 gene DOID:10907 microcephaly ISO RGD:1321415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary Microcephaly, Recessive 11945934 RNF17 ring finger protein 17 gene DOID:630 genetic disease ISO RGD:1321415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 11945934 RNF17 ring finger protein 17 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11945974 KDM4E lysine demethylase 4E gene DOID:1059 intellectual disability ISO RGD:2311613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11945974 KDM4E lysine demethylase 4E gene DOID:12704 ataxia telangiectasia ISO RGD:2311613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11945974 KDM4E lysine demethylase 4E gene DOID:3007 breast ductal carcinoma ISO RGD:2311613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 11945974 KDM4E lysine demethylase 4E gene DOID:630 genetic disease ISO RGD:2311613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11945979 INTS8 integrator complex subunit 8 gene DOID:10283 prostate cancer ISO RGD:1604344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11945979 INTS8 integrator complex subunit 8 gene DOID:2843 long QT syndrome ISO RGD:1604344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11945979 INTS8 integrator complex subunit 8 gene DOID:630 genetic disease ISO RGD:1604344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11945979 INTS8 integrator complex subunit 8 gene DOID:9009083 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY ISO RGD:1604344 D RGD:7240710 20191016 OMIM 11945979 INTS8 integrator complex subunit 8 gene DOID:9009083 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY ISO RGD:1604344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity PMID:25741868|PMID:28763441 11946021 PSMB6 proteasome 20S subunit beta 6 gene DOID:630 genetic disease ISO RGD:1349289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946033 FAM177B family with sequence similarity 177 member B gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1605784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 11946033 FAM177B family with sequence similarity 177 member B gene DOID:1540 parathyroid carcinoma ISO RGD:1605784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11946033 FAM177B family with sequence similarity 177 member B gene DOID:630 genetic disease ISO RGD:1605784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946033 FAM177B family with sequence similarity 177 member B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11946049 MYT1 myelin transcription factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1312603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11946049 MYT1 myelin transcription factor 1 gene DOID:1059 intellectual disability ISO RGD:1312603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11946049 MYT1 myelin transcription factor 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1312603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11946049 MYT1 myelin transcription factor 1 gene DOID:630 genetic disease ISO RGD:1312603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946077 PADI4 peptidyl arginine deiminase 4 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1348860 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11946077 PADI4 peptidyl arginine deiminase 4 gene DOID:305 carcinoma ISO RGD:1348860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11946077 PADI4 peptidyl arginine deiminase 4 gene DOID:630 genetic disease ISO RGD:1348860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946077 PADI4 peptidyl arginine deiminase 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1348860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis 11946077 PADI4 peptidyl arginine deiminase 4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1348860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11946077 PADI4 peptidyl arginine deiminase 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1348860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11946097 SON SON DNA and RNA binding protein gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1319118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11946097 SON SON DNA and RNA binding protein gene DOID:0060898 Parkinson's disease 20 ISO RGD:1319118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 11946097 SON SON DNA and RNA binding protein gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1319118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11946097 SON SON DNA and RNA binding protein gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1319118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11946097 SON SON DNA and RNA binding protein gene DOID:0110770 hereditary spastic paraplegia 17 ISO RGD:1319118 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 PMID:25590979|PMID:25741868|PMID:25741875|PMID:27256762|PMID:27545676|PMID:27545680|PMID:28492532|PMID:34521999 11946097 SON SON DNA and RNA binding protein gene DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay ISO RGD:1319118 D RGD:9068941 20221110 RGD DNA:missense mutations:exon 3:multiple (human) PMID:31005274|REF_RGD_ID:155641262 11946097 SON SON DNA and RNA binding protein gene DOID:1059 intellectual disability ISO RGD:1319118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11946097 SON SON DNA and RNA binding protein gene DOID:630 genetic disease ISO RGD:1319118 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25590979|PMID:25741868|PMID:25741875|PMID:27256762|PMID:27545676|PMID:27545680|PMID:28492532|PMID:34521999 11946097 SON SON DNA and RNA binding protein gene DOID:8469 influenza ISO RGD:1319119 D RGD:9068941 20221110 RGD PMID:34883209|REF_RGD_ID:155641258 11946097 SON SON DNA and RNA binding protein gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1319118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11946097 SON SON DNA and RNA binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319118 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25590979|PMID:25741868|PMID:25741875|PMID:27256762|PMID:27545676|PMID:27545680|PMID:28492532|PMID:34521999 11946097 SON SON DNA and RNA binding protein gene DOID:9005698 ZTTK Syndrome ISO RGD:1319118 D RGD:7240710 20190315 OMIM 11946097 SON SON DNA and RNA binding protein gene DOID:9005698 ZTTK Syndrome ISO RGD:1319118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25590979|PMID:25741868|PMID:25741875|PMID:27256762|PMID:27545676|PMID:27545680|PMID:28135719|PMID:28492532|PMID:32368696|PMID:34521999 11946097 SON SON DNA and RNA binding protein gene DOID:9008086 Developmental Disabilities ISO RGD:1319118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25590979|PMID:25741868|PMID:25741875|PMID:27256762|PMID:27545676|PMID:27545680|PMID:28135719|PMID:28492532|PMID:34521999 11946097 SON SON DNA and RNA binding protein gene DOID:9008582 Developmental Disease ISO RGD:1319118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11946115 PYCR1 pyrroline-5-carboxylate reductase 1 gene DOID:0070137 autosomal recessive cutis laxa type IIB ISO RGD:1317303 D RGD:7240710 20180130 OMIM 11946115 PYCR1 pyrroline-5-carboxylate reductase 1 gene DOID:0070137 autosomal recessive cutis laxa type IIB ISO RGD:1317303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive cutis laxa type 2B | ClinVar Annotator: match by term: CUTIS LAXA WITH PROGEROID FEATURES PMID:11424136|PMID:16045708|PMID:18304158|PMID:18348262|PMID:19576563|PMID:19648921|PMID:21834030|PMID:23963297|PMID:24035636|PMID:25741868|PMID:25741869|PMID:25865492|PMID:26516448|PMID:28294978|PMID:28492532|PMID:28499588|PMID:30450527|PMID:32860008|PMID:33125268 11946115 PYCR1 pyrroline-5-carboxylate reductase 1 gene DOID:0070138 autosomal recessive cutis laxa type IIIB ISO RGD:1317303 D RGD:7240710 20180130 OMIM 11946115 PYCR1 pyrroline-5-carboxylate reductase 1 gene DOID:0070138 autosomal recessive cutis laxa type IIIB ISO RGD:1317303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DE BARSY SYNDROME B PMID:16233902|PMID:18348262|PMID:19648921|PMID:21567914|PMID:22052856|PMID:23406396|PMID:24035636|PMID:25741868|PMID:28492532|PMID:30138938|PMID:30450527|PMID:4076251 11946115 PYCR1 pyrroline-5-carboxylate reductase 1 gene DOID:0080600 COVID-19 ISO RGD:1317303 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11946115 PYCR1 pyrroline-5-carboxylate reductase 1 gene DOID:0081333 Wiedemann-Rautenstrauch syndrome ISO RGD:1317303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome PMID:16199547|PMID:16233902|PMID:18348262|PMID:19648921|PMID:21834030|PMID:23963297|PMID:24035636|PMID:25741868|PMID:28492532|PMID:30450527|PMID:32860008|PMID:4076251 11946115 PYCR1 pyrroline-5-carboxylate reductase 1 gene DOID:10907 microcephaly ISO RGD:1317303 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:21739576|PMID:24913064|PMID:25741868|PMID:28492532 11946115 PYCR1 pyrroline-5-carboxylate reductase 1 gene DOID:3144 cutis laxa ISO RGD:1317303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cutis laxa PMID:16199547|PMID:16233902|PMID:18304158|PMID:19576563|PMID:19648921|PMID:21739576|PMID:21834030|PMID:23963297|PMID:24035636|PMID:24913064|PMID:25741868|PMID:25741869|PMID:25865492|PMID:26516448|PMID:28294978|PMID:28492532|PMID:30138938|PMID:30450527|PMID:33125268 11946115 PYCR1 pyrroline-5-carboxylate reductase 1 gene DOID:3911 progeria ISO RGD:1317303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19648921 11946115 PYCR1 pyrroline-5-carboxylate reductase 1 gene DOID:630 genetic disease ISO RGD:1317303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:16233902|PMID:18304158|PMID:19576563|PMID:19648921|PMID:24035636|PMID:25741868|PMID:25741869|PMID:26516448|PMID:28294978|PMID:28492532|PMID:30138938|PMID:30450527|PMID:33125268|PMID:4076251 11946115 PYCR1 pyrroline-5-carboxylate reductase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11946115 PYCR1 pyrroline-5-carboxylate reductase 1 gene DOID:9002034 Autosomal Recessive Cutis Laxa ISO RGD:1317303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, recessive 11946139 NECAP1 NECAP endocytosis associated 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1603669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11946139 NECAP1 NECAP endocytosis associated 1 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1603669 D RGD:7240710 20180130 OMIM 11946139 NECAP1 NECAP endocytosis associated 1 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1603669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:17576681|PMID:24399846|PMID:25558065|PMID:25741868|PMID:28492532|PMID:30525121|PMID:30626896|PMID:9536098 11946139 NECAP1 NECAP endocytosis associated 1 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1603669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11946139 NECAP1 NECAP endocytosis associated 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1603669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11946139 NECAP1 NECAP endocytosis associated 1 gene DOID:0111621 Temtamy syndrome ISO RGD:1603669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11946139 NECAP1 NECAP endocytosis associated 1 gene DOID:1826 epilepsy ISO RGD:1603669 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11946139 NECAP1 NECAP endocytosis associated 1 gene DOID:630 genetic disease ISO RGD:1603669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11946139 NECAP1 NECAP endocytosis associated 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1603669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11946151 CD276 CD276 molecule gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604282 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11946151 CD276 CD276 molecule gene DOID:2717 Bloom syndrome ISO RGD:1604282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11946151 CD276 CD276 molecule gene DOID:2843 long QT syndrome ISO RGD:1604282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11946151 CD276 CD276 molecule gene DOID:3320 Tay-Sachs disease ISO RGD:1604282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 11946151 CD276 CD276 molecule gene DOID:5419 schizophrenia ISO RGD:1604282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11946151 CD276 CD276 molecule gene DOID:630 genetic disease ISO RGD:1604282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946151 CD276 CD276 molecule gene DOID:684 hepatocellular carcinoma ISO RGD:1604282 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16217749 11946151 CD276 CD276 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604282 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11946151 CD276 CD276 molecule gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604282 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30614027 11946151 CD276 CD276 molecule gene DOID:9256 colorectal cancer ISO RGD:1604282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11946172 CCNB1 cyclin B1 gene DOID:0060058 lymphoma ISO RGD:735742 D RGD:9068941 20200609 RGD PMID:19666607|REF_RGD_ID:2315935 11946172 CCNB1 cyclin B1 gene DOID:0080600 COVID-19 ISO RGD:733179 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11946172 CCNB1 cyclin B1 gene DOID:10283 prostate cancer ISO RGD:733179 D RGD:9068941 20200609 RGD PMID:18006855|REF_RGD_ID:2293596 11946172 CCNB1 cyclin B1 gene DOID:11132 prostatic hypertrophy ISO RGD:735742 D RGD:9068941 20200609 RGD PMID:12670908|REF_RGD_ID:2315046 11946172 CCNB1 cyclin B1 gene DOID:11612 polycystic ovary syndrome ISO RGD:733179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11946172 CCNB1 cyclin B1 gene DOID:11832 visual epilepsy ISO RGD:2291 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus CA1, neuron PMID:16242239|REF_RGD_ID:2315994 11946172 CCNB1 cyclin B1 gene DOID:1612 breast cancer ISO RGD:733179 D RGD:9068941 20200609 RGD PMID:19223507|REF_RGD_ID:2315937 11946172 CCNB1 cyclin B1 gene DOID:1612 breast cancer disease_progression ISO RGD:733179 D RGD:9068941 20200609 RGD PMID:19957331|REF_RGD_ID:2315934 11946172 CCNB1 cyclin B1 gene DOID:2152 ovary epithelial cancer ISO RGD:733179 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:19608149|REF_RGD_ID:2315936 11946172 CCNB1 cyclin B1 gene DOID:2526 prostate adenocarcinoma severity ISO RGD:733179 D RGD:9068941 20200609 RGD PMID:10193948|REF_RGD_ID:2315940 11946172 CCNB1 cyclin B1 gene DOID:2871 endometrial carcinoma ISO RGD:733179 D RGD:9068941 20200609 RGD PMID:17483252|REF_RGD_ID:2289230 11946172 CCNB1 cyclin B1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733179 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34837450 11946172 CCNB1 cyclin B1 gene DOID:4362 cervical cancer ISO RGD:733179 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:uterine cervix PMID:16614707|REF_RGD_ID:2315938 11946172 CCNB1 cyclin B1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:733179 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:16557593|REF_RGD_ID:2315941 11946172 CCNB1 cyclin B1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:733179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29464035 11946172 CCNB1 cyclin B1 gene DOID:630 genetic disease ISO RGD:733179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946172 CCNB1 cyclin B1 gene DOID:684 hepatocellular carcinoma ISO RGD:733179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11946172 CCNB1 cyclin B1 gene DOID:8719 in situ carcinoma ISO RGD:733179 D RGD:9068941 20200609 RGD associated with Vulvar Neoplasms;protein:increased expression:vulva PMID:12610511|REF_RGD_ID:2296040 11946172 CCNB1 cyclin B1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2291 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:17342310|REF_RGD_ID:2315991 11946172 CCNB1 cyclin B1 gene DOID:9002221 Hyperplasia ISO RGD:2291 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:thyroid gland PMID:19298605|REF_RGD_ID:2314685 11946172 CCNB1 cyclin B1 gene DOID:9004009 Reperfusion Injury ISO RGD:2291 D RGD:9068941 20200609 RGD protein;altered expression:cerebral cortex, hippocampus CA1, neuron PMID:18278459|REF_RGD_ID:2315990 11946172 CCNB1 cyclin B1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11946172 CCNB1 cyclin B1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735742 D RGD:9068941 20200609 RGD PMID:11146550|REF_RGD_ID:2315939 11946172 CCNB1 cyclin B1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2291 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:20031167|REF_RGD_ID:2316310 11946185 CIB3 calcium and integrin binding family member 3 gene DOID:630 genetic disease ISO RGD:1312677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946196 RFESD Rieske Fe-S domain containing gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605818 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11946196 RFESD Rieske Fe-S domain containing gene DOID:630 genetic disease ISO RGD:1605818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946196 RFESD Rieske Fe-S domain containing gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11946196 RFESD Rieske Fe-S domain containing gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605818 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11946226 WFDC9 WAP four-disulfide core domain 9 gene DOID:2234 focal epilepsy ISO RGD:1350341 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11946226 WFDC9 WAP four-disulfide core domain 9 gene DOID:630 genetic disease ISO RGD:1350341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946226 WFDC9 WAP four-disulfide core domain 9 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1350341 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11946239 SERPINB1 serpin family B member 1 gene DOID:630 genetic disease ISO RGD:1314687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946255 PIM1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:0060071 pre-malignant neoplasm ISO RGD:737516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 11946255 PIM1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:0080600 COVID-19 ISO RGD:737516 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 11946255 PIM1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:11400 pyelonephritis ISO RGD:737516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23565217 11946255 PIM1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:3042 allergic contact dermatitis ISO RGD:737516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 11946255 PIM1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:3068 glioblastoma ISO RGD:737516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23724780 11946255 PIM1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:3827 congenital diaphragmatic hernia ISO RGD:737516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25812446 11946255 PIM1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:8634 prostate carcinoma in situ ISO RGD:737516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23565217 11946255 PIM1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:9006205 Animal Disease Models ISO RGD:737516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25812446 11946255 PIM1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23565217 11946255 PIM1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:737516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 11946265 PSPC1 paraspeckle component 1 gene DOID:630 genetic disease ISO RGD:1320843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946284 SLC25A27 solute carrier family 25 member 27 gene DOID:5419 schizophrenia susceptibility ISO RGD:1344458 D RGD:9068941 20200609 RGD DNA:SNPs:intron, 3' utr: (rs10807344, rs2270450) PMID:17066476|REF_RGD_ID:6482844 11946284 SLC25A27 solute carrier family 25 member 27 gene DOID:630 genetic disease ISO RGD:1344458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946284 SLC25A27 solute carrier family 25 member 27 gene DOID:9000039 Spinal Cord Injuries ISO RGD:732894 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:18534681|REF_RGD_ID:6482843 11946314 SNURF SNRPN upstream open reading frame gene DOID:0060041 autism spectrum disorder ISO RGD:736038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545|PMID:28492532 11946314 SNURF SNRPN upstream open reading frame gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:736038 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 11946314 SNURF SNRPN upstream open reading frame gene DOID:11983 Prader-Willi syndrome ISO RGD:736038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 11946314 SNURF SNRPN upstream open reading frame gene DOID:12849 autistic disorder ISO RGD:736038 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 11946314 SNURF SNRPN upstream open reading frame gene DOID:1932 Angelman syndrome ISO RGD:736038 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:12210318|PMID:18821858|PMID:22190369|PMID:23495136|PMID:24088041|PMID:25099823|PMID:25212744|PMID:25884337|PMID:26633545|PMID:28492532 11946314 SNURF SNRPN upstream open reading frame gene DOID:5419 schizophrenia ISO RGD:736038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11946314 SNURF SNRPN upstream open reading frame gene DOID:630 genetic disease ISO RGD:736038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946314 SNURF SNRPN upstream open reading frame gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11946375 DDN dendrin gene DOID:630 genetic disease ISO RGD:1345220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946381 MARCHF1 membrane associated ring-CH-type finger 1 gene DOID:0080600 COVID-19 ISO RGD:1354489 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11946381 MARCHF1 membrane associated ring-CH-type finger 1 gene DOID:630 genetic disease ISO RGD:1354489 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946393 VPS16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1345721 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11946393 VPS16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:1227 neutropenia ISO RGD:1345721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neutropenia 11946393 VPS16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1345721 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11946393 VPS16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:574 peripheral nervous system disease ISO RGD:1345721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 11946393 VPS16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:630 genetic disease ISO RGD:1345721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946393 VPS16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:870 neuropathy ISO RGD:1345721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 11946393 VPS16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:9002720 Splenomegaly ISO RGD:1345721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Enlarged Spleen 11946393 VPS16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:9008352 Dystonia 30 ISO RGD:1345721 D RGD:7240710 20210505 OMIM 11946393 VPS16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:9008352 Dystonia 30 ISO RGD:1345721 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dystonia 30 | ClinVar Annotator: match by term: VPS16-associated disorder PMID:25741868|PMID:27174565|PMID:32808683 11946421 SRSF11 serine and arginine rich splicing factor 11 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1343968 D RGD:9068941 20200609 RGD mRNA:splice variant:bone marrow, hematopoietic stem cell (human) PMID:24244432|REF_RGD_ID:11038800 11946421 SRSF11 serine and arginine rich splicing factor 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1343968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11946421 SRSF11 serine and arginine rich splicing factor 11 gene DOID:1059 intellectual disability ISO RGD:1343968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11946421 SRSF11 serine and arginine rich splicing factor 11 gene DOID:630 genetic disease ISO RGD:1343968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946455 KCNJ16 potassium inwardly rectifying channel subfamily J member 16 gene DOID:0050758 metabolic acidosis ISO RGD:61824 D RGD:9068941 20201211 RGD compared to SS/JrHsdMcwi PMID:30605394|REF_RGD_ID:38500203 11946455 KCNJ16 potassium inwardly rectifying channel subfamily J member 16 gene DOID:4500 hypokalemia ISO RGD:61824 D RGD:9068941 20200813 RGD protein:decreased expression:cortical collecting duct, distal convoluted tubule (rat) PMID:28931751|REF_RGD_ID:38500204 11946455 KCNJ16 potassium inwardly rectifying channel subfamily J member 16 gene DOID:9003275 Hypokalemic Tubulopathy and Deafness ISO RGD:1343172 D RGD:7240710 20210825 OMIM 11946455 KCNJ16 potassium inwardly rectifying channel subfamily J member 16 gene DOID:9003275 Hypokalemic Tubulopathy and Deafness ISO RGD:1343172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPOKALEMIC TUBULOPATHY AND DEAFNESS PMID:33811157 11946455 KCNJ16 potassium inwardly rectifying channel subfamily J member 16 gene DOID:9008852 Respiratory Underresponsiveness to Hypoxia and Hypercapnia ISO RGD:61824 D RGD:9068941 20201211 RGD compared to SS/JrHsdMcwi PMID:30605394|REF_RGD_ID:38500203 11946471 ZNHIT2 zinc finger HIT-type containing 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1348570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11946471 ZNHIT2 zinc finger HIT-type containing 2 gene DOID:1059 intellectual disability ISO RGD:1348570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11946471 ZNHIT2 zinc finger HIT-type containing 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1348570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11946471 ZNHIT2 zinc finger HIT-type containing 2 gene DOID:2746 glycogen storage disease V ISO RGD:1348570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11946471 ZNHIT2 zinc finger HIT-type containing 2 gene DOID:3070 high grade glioma ISO RGD:1348570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11946471 ZNHIT2 zinc finger HIT-type containing 2 gene DOID:630 genetic disease ISO RGD:1348570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946476 MEGF8 multiple EGF like domains 8 gene DOID:0050545 visceral heterotaxy ISO RGD:737435 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 11946476 MEGF8 multiple EGF like domains 8 gene DOID:0060234 Carpenter syndrome ISO RGD:737434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 11946476 MEGF8 multiple EGF like domains 8 gene DOID:1148 polydactyly ISO RGD:737434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:23063620|PMID:25741868|PMID:28914635|PMID:29168297 11946476 MEGF8 multiple EGF like domains 8 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:737434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11946476 MEGF8 multiple EGF like domains 8 gene DOID:1342 congenital hypoplastic anemia ISO RGD:737434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11946476 MEGF8 multiple EGF like domains 8 gene DOID:2340 craniosynostosis ISO RGD:737434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11946476 MEGF8 multiple EGF like domains 8 gene DOID:5419 schizophrenia ISO RGD:737434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11946476 MEGF8 multiple EGF like domains 8 gene DOID:630 genetic disease ISO RGD:737434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11946476 MEGF8 multiple EGF like domains 8 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:737434 D RGD:7240710 20180130 OMIM 11946476 MEGF8 multiple EGF like domains 8 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:737434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:16199547|PMID:17576681|PMID:23063620|PMID:25326635|PMID:25741868|PMID:28492532|PMID:29168297|PMID:9536098 11946476 MEGF8 multiple EGF like domains 8 gene DOID:9269 maple syrup urine disease ISO RGD:737434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:0001816 angiosarcoma ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737202 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:0060074 ductal carcinoma in situ ISO RGD:737202 D RGD:9068941 20200609 RGD associated with Carcinoma, Ductal, Breast PMID:15841074|REF_RGD_ID:2289965 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:0060224 atrial fibrillation ISO RGD:737202 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:heart: PMID:20631454|REF_RGD_ID:8551825 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:0060669 cerebral cavernous malformation ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell: PMID:11220380|REF_RGD_ID:8551824 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell: PMID:11220380|REF_RGD_ID:8551824 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:0080600 COVID-19 ISO RGD:737202 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:10591 pre-eclampsia ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18679377|PMID:28628106 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:10591 pre-eclampsia ISO RGD:737202 D RGD:9068941 20200609 RGD PMID:15472115|REF_RGD_ID:1582493 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:10591 pre-eclampsia ISO RGD:737202 D RGD:9068941 20230330 RGD mRNA,protein:increased expression:placenta PMID:22262697|REF_RGD_ID:243048428 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:vitreous: PMID:22868384|REF_RGD_ID:10402118 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:737202 D RGD:9068941 20200609 RGD DNA:SNP::rs9943922, rs9508034, rs2281827, rs7324510, rs9513115 (human) PMID:24812550|REF_RGD_ID:10402108 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:10873 Kuhnt-Junius degeneration treatment ISO RGD:737202 D RGD:9068941 20200609 RGD PMID:20609706|REF_RGD_ID:10402116 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:11212 hydrophthalmos ISO RGD:734184 D RGD:9068941 20200609 RGD PMID:22426483|REF_RGD_ID:8549773 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:11382 corneal neovascularization treatment ISO RGD:2621 D RGD:9068941 20200609 RGD PMID:19647313|REF_RGD_ID:10402147 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:737202 D RGD:9068941 20200609 RGD PMID:22003089|REF_RGD_ID:10402122 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:13025 retinopathy of prematurity ISO RGD:734184 D RGD:9068941 20200609 RGD PMID:21731737|REF_RGD_ID:5684426 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:13025 retinopathy of prematurity treatment ISO RGD:2621 D RGD:9068941 20221117 RGD PMID:30652694|REF_RGD_ID:155663485 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:vitreous: PMID:22868384|REF_RGD_ID:10402118 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:13208 background diabetic retinopathy ISO RGD:737202 D RGD:9068941 20200609 RGD protein:decreased expression:aqueous humor: PMID:23853629|REF_RGD_ID:10402120 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:737202 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:13378 Kawasaki disease ISO RGD:737202 D RGD:9068941 20200609 RGD PMID:11839635|REF_RGD_ID:1582494 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:1520 colon carcinoma ISO RGD:737202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:1612 breast cancer ISO RGD:2621 D RGD:9068941 20200609 RGD protein:increased expression:mammary carcinoma cells PMID:10604730|REF_RGD_ID:2289937 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:737202 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:1909 melanoma ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19718025 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:1909 melanoma ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21730877|REF_RGD_ID:8552360 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:1967 leiomyosarcoma severity ISO RGD:737202 D RGD:9068941 20200609 RGD Uterine; protein:increased expression:tumor:increased phospho-FLT1 level significantly associated with decreased survival rate (p=0.008) PMID:15823121|REF_RGD_ID:2289964 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:2154 nephroblastoma severity ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:blastemal cells:expression associated with poor prognosis in chemotherapy treated patients PMID:12560388|REF_RGD_ID:2289966 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:734184 D RGD:9068941 20200609 RGD PMID:17077813|REF_RGD_ID:10402150 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:2256 osteochondrodysplasia ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17954590 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:2696 Leydig cell tumor ISO RGD:737202 D RGD:9068941 20200609 RGD PMID:14517422|REF_RGD_ID:2301251 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:3042 allergic contact dermatitis ISO RGD:737202 D RGD:9068941 20200609 RGD mRNA:protein:skin: PMID:7876550|REF_RGD_ID:7421586 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15681497|REF_RGD_ID:5684420 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:326 ischemia ISO RGD:734184 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:17823371|REF_RGD_ID:2313719 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:737202 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:737202 D RGD:9068941 20220310 RGD PMID:32626543|REF_RGD_ID:151665104 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:4448 macular degeneration ISO RGD:734184 D RGD:9068941 20200609 RGD PMID:21731737|REF_RGD_ID:5684426 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:4449 macular retinal edema ISO RGD:737202 D RGD:9068941 20200609 RGD associated with Branch Retinal Vein Occlusion; protein:increased expression:aqueous humor: PMID:24894397|REF_RGD_ID:10402117 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16596207 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:737202 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:expression significantly higher in tumors than corresponding normal tissue (p=0.01), significantly correlated with VEGF expression PMID:11846206|REF_RGD_ID:2289960 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:kidney, blood, myeloid cell PMID:18566400|REF_RGD_ID:2301250 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:4676 uremia ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:5082 liver cirrhosis ISO RGD:2621 D RGD:9068941 20200609 RGD mRNA:increased expressin:liver: PMID:11981751|REF_RGD_ID:634296 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:5082 liver cirrhosis ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11981751 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:5844 myocardial infarction ISO RGD:2621 D RGD:9068941 20200609 RGD PMID:16714360|REF_RGD_ID:1601493 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:630 genetic disease ISO RGD:737202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:8398 osteoarthritis ISO RGD:737202 D RGD:9068941 20200609 RGD mRNA:increased expression:trabecular bone: PMID:15781004|REF_RGD_ID:10402109 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:737202 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:10893635|REF_RGD_ID:2301255 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:8725 vascular dementia treatment ISO RGD:2621 D RGD:9068941 20200609 RGD PMID:22500404|REF_RGD_ID:10402076 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:8893 psoriasis disease_progression ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:20980160|REF_RGD_ID:8552359 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:8947 diabetic retinopathy ISO RGD:737202 D RGD:9068941 20200609 RGD PMID:17143550|REF_RGD_ID:2313721 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:8947 diabetic retinopathy treatment ISO RGD:2621 D RGD:9068941 20200609 RGD PMID:18174522|REF_RGD_ID:10402119 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2621 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord, astrocyte, macrophage PMID:17409380|REF_RGD_ID:5684414 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9000528 Coronary Disease ISO RGD:737202 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ventricle myocardium PMID:16139132|REF_RGD_ID:2313728 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9000918 Disease Progression ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23146280 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21975929 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:2621 D RGD:9068941 20200609 RGD PMID:23804076|REF_RGD_ID:10402115 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:734184 D RGD:9068941 20200609 RGD PMID:23977149|REF_RGD_ID:10402113 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:737202 D RGD:9068941 20200609 RGD PMID:10849558|REF_RGD_ID:10402112 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737202 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:urine PMID:15610240|REF_RGD_ID:2313731 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9002265 Kidney Neoplasms severity ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression, alternative form:serum:increased expression of soluble domain in serum associated with poor survival (p=0.01) PMID:11448916|REF_RGD_ID:2289948 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737202 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter:methylated in 24/63 (38.1%) of cancer samples but 0/13 (0%) of benign prostate samples PMID:12824880|REF_RGD_ID:2289963 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:prostate:expression in 15/15 (100%) of tumors examined, levels increased in neoplastic tissue relative to adjacent benign tissue PMID:10475375|REF_RGD_ID:2289936 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9002457 Experimental Arthritis ISO RGD:734184 D RGD:9068941 20200609 RGD PMID:19180491|REF_RGD_ID:6483591 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9002514 Neointima ISO RGD:2621 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:smooth muscle cell: PMID:9400373|REF_RGD_ID:10402128 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9002514 Neointima treatment ISO RGD:2621 D RGD:9068941 20200609 RGD PMID:22814749|REF_RGD_ID:10402146 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:2621 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:17888890|REF_RGD_ID:10402152 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17888890 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:734184 D RGD:9068941 20200609 RGD PMID:11929819|REF_RGD_ID:2301253 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737202 D RGD:9068941 20200609 RGD PMID:11448924|REF_RGD_ID:2301254 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:ovarian epithelial carcinoma PMID:15350351|REF_RGD_ID:2289945 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:737202 D RGD:9068941 20200609 RGD PMID:18721816|REF_RGD_ID:10402153 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9002801 Recurrence ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23146280|PMID:26124351 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737202 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix PMID:17306351|REF_RGD_ID:2289084 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9004268 Uterine Neoplasms ISO RGD:737202 D RGD:9068941 20200609 RGD Uterine sarcomas; protein:altered expression:tumor:increased expression of total FLT1 but decreased expression of phospho-FLT1 PMID:15823121|REF_RGD_ID:2289964 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9004332 Osteoarthritis, Experimental ISO RGD:737202 D RGD:9068941 20200609 RGD PMID:23041435|REF_RGD_ID:10402106 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9004464 Skin Neoplasms ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19718025 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9004484 Sepsis disease_progression ISO RGD:737202 D RGD:9068941 20200609 RGD Pneumonia associated sepsis PMID:21219633|REF_RGD_ID:4891938 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9004610 Acute Lung Injury ISO RGD:2621 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:21528367|REF_RGD_ID:5684427 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2621 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:16741021|REF_RGD_ID:2313724 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734184 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle PMID:16816123|REF_RGD_ID:2313725 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21135413 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:10831352|REF_RGD_ID:2301256 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9007715 Endometrial Neoplasms severity ISO RGD:737202 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:endometrium PMID:12485477|REF_RGD_ID:2301252 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9008821 Otitis Media with Effusion ISO RGD:2621 D RGD:9068941 20200609 RGD mRNA:increased expression:mucosa of the middle ear; PMID:12875575|REF_RGD_ID:8547977 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23146280|PMID:26124351 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression, alternative form:tumor:increased expression of soluble form, significantly correlated with VEGF expression PMID:11857378|REF_RGD_ID:2289961 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9008939 Breast Neoplasms severity ISO RGD:737202 D RGD:9068941 20200609 RGD protein:altered expression:tumor:positive expression improves survival rate after neoadjuvant chemotherapy, negative expression associated with poor prognosis PMID:12910290|REF_RGD_ID:2289962 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:737202 D RGD:9068941 20210514 RGD PMID:16480593|REF_RGD_ID:126925191 11946529 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:734184 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:skeletal muscle PMID:17823371|REF_RGD_ID:2313719 11946566 LNX2 ligand of numb-protein X 2 gene DOID:630 genetic disease ISO RGD:1317872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946582 DERPC DERPC proline and glycine rich nuclear protein gene DOID:630 genetic disease ISO RGD:13825203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946600 SLC25A11 solute carrier family 25 member 11 gene DOID:0050941 spastic ataxia 2 ISO RGD:732504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 11946600 SLC25A11 solute carrier family 25 member 11 gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:732504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 11946600 SLC25A11 solute carrier family 25 member 11 gene DOID:11394 adult respiratory distress syndrome ISO RGD:732504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 11946600 SLC25A11 solute carrier family 25 member 11 gene DOID:630 genetic disease ISO RGD:732504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11946600 SLC25A11 solute carrier family 25 member 11 gene DOID:9005512 Paragangliomas 6 ISO RGD:732504 D RGD:7240710 20190710 OMIM 11946600 SLC25A11 solute carrier family 25 member 11 gene DOID:9005512 Paragangliomas 6 ISO RGD:732504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paragangliomas 6 PMID:25741868|PMID:29431636 11946623 DNAJC12 DnaJ heat shock protein family (Hsp40) member C12 gene DOID:13580 cholestasis ISO RGD:1602472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 11946623 DNAJC12 DnaJ heat shock protein family (Hsp40) member C12 gene DOID:630 genetic disease ISO RGD:1602472 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30626930|PMID:32333439 11946623 DNAJC12 DnaJ heat shock protein family (Hsp40) member C12 gene DOID:9004032 HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT ISO RGD:1602472 D RGD:7240710 20190315 OMIM 11946623 DNAJC12 DnaJ heat shock protein family (Hsp40) member C12 gene DOID:9004032 HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT ISO RGD:1602472 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperphenylalaninemia, mild, non-bh4-deficient PMID:25741868|PMID:28132689|PMID:28492532|PMID:28794131|PMID:28892570|PMID:30139987|PMID:30626930|PMID:32333439|PMID:9159748 11946623 DNAJC12 DnaJ heat shock protein family (Hsp40) member C12 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1602472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 11946642 DHX29 DExH-box helicase 29 gene DOID:10283 prostate cancer ISO RGD:1318664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11946642 DHX29 DExH-box helicase 29 gene DOID:630 genetic disease ISO RGD:1318664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946642 DHX29 DExH-box helicase 29 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11946673 MATN4 matrilin 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1320229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 11946673 MATN4 matrilin 4 gene DOID:2234 focal epilepsy ISO RGD:1320229 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11946673 MATN4 matrilin 4 gene DOID:4621 holoprosencephaly ISO RGD:1320229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:25558065 11946673 MATN4 matrilin 4 gene DOID:630 genetic disease ISO RGD:1320229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946673 MATN4 matrilin 4 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1320229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11946673 MATN4 matrilin 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320229 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11946673 MATN4 matrilin 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1320229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 11946705 C1H1orf21 chromosome 1 C1orf21 homolog gene DOID:0080600 COVID-19 ISO RGD:1319257 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11946705 C1H1orf21 chromosome 1 C1orf21 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1319257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11946705 C1H1orf21 chromosome 1 C1orf21 homolog gene DOID:630 genetic disease ISO RGD:1319257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946705 C1H1orf21 chromosome 1 C1orf21 homolog gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1309104 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11946705 C1H1orf21 chromosome 1 C1orf21 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11946715 ENY2 ENY2 transcription and export complex 2 subunit gene DOID:630 genetic disease ISO RGD:1601985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946727 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:0050651 atrioventricular septal defect ISO RGD:1323630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect PMID:25741868|PMID:28492532 11946727 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:0050834 CHARGE syndrome ISO RGD:1323630 D RGD:7240710 20180130 OMIM 11946727 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:0050834 CHARGE syndrome ISO RGD:1323630 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CHARGE association | ClinVar Annotator: match by term: Hall-Hittner syndrome PMID:10590394|PMID:14626219|PMID:15300250|PMID:15666308|PMID:16155193|PMID:16169932|PMID:16199547|PMID:16400610|PMID:16615981|PMID:16763960|PMID:17253929|PMID:17299439|PMID:17334995|PMID:17576681|PMID:17661815|PMID:17684005|PMID:17937444|PMID:18073582|PMID:18074359|PMID:18089695|PMID:18413373|PMID:18414213|PMID:18445044|PMID:18484313|PMID:18505430|PMID:18834967|PMID:18978652|PMID:19021638|PMID:19112063|PMID:19763152|PMID:19772954|PMID:20130577|PMID:20186815|PMID:20301296|PMID:20307669|PMID:20453063|PMID:20624498|PMID:20884005|PMID:21041284|PMID:21158681|PMID:21196067|PMID:21378379|PMID:21532573|PMID:21554267|PMID:21856375|PMID:21931733|PMID:21995344|PMID:22033296|PMID:22035731|PMID:22258531|PMID:22399515|PMID:22406018|PMID:22461308|PMID:22462537|PMID:22495309|PMID:22539353|PMID:22902603|PMID:23024289|PMID:23378218|PMID:23526466|PMID:23533228|PMID:23806086|PMID:23849776|PMID:23883829|PMID:23885230|PMID:23956205|PMID:24033266|PMID:24088041|PMID:24368733|PMID:24755471|PMID:24819706|PMID:24862881|PMID:24979395|PMID:25064402|PMID:25077900|PMID:25326635|PMID:25326637|PMID:25383892|PMID:25472840|PMID:25741868|PMID:25931334|PMID:26141714|PMID:26436962|PMID:26467025|PMID:26538304|PMID:26544072|PMID:26590800|PMID:26663670|PMID:26666243|PMID:26785492|PMID:26813943|PMID:26929907|PMID:26986878|PMID:27061523|PMID:27562378|PMID:27832265|PMID:27884173|PMID:27884859|PMID:27899157|PMID:28166811|PMID:28191889|PMID:28475860|PMID:28492532|PMID:28554332|PMID:28832562|PMID:28991257|PMID:29152903|PMID:29178447|PMID:29255181|PMID:29255276|PMID:29300383|PMID:29304373|PMID:29355723|PMID:29419413|PMID:30029678|PMID:30293987|PMID:30311386|PMID:30653986|PMID:30733481|PMID:30828794|PMID:31019026|PMID:31042289|PMID:31043788|PMID:31130284|PMID:31146700|PMID:31289371|PMID:31395954|PMID:31501239|PMID:31564432|PMID:31689711|PMID:31729160|PMID:32185379|PMID:32804436|PMID:32851286|PMID:32870266|PMID:33184947|PMID:33502061|PMID:7651832|PMID:9536098 11946727 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:0060041 autism spectrum disorder ISO RGD:1323630 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11946727 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:0060225 3MC syndrome ISO RGD:1323630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3MC syndrome PMID:21554267|PMID:28492532 11946727 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:0060249 scoliosis ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868 11946727 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:0060250 idiopathic scoliosis ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 3 PMID:17436250|PMID:23883829|PMID:25741868 11946727 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1323630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:15300250|PMID:16155193|PMID:18073582|PMID:20884005|PMID:21158681|PMID:22539353|PMID:25472840|PMID:25741868|PMID:28492532 11946727 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia ISO RGD:1323630 D RGD:7240710 20180130 OMIM 11946727 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia ISO RGD:1323630 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia PMID:15300250|PMID:16155193|PMID:16400610|PMID:16615981|PMID:16763960|PMID:17576681|PMID:18073582|PMID:18074359|PMID:18414213|PMID:18445044|PMID:18834967|PMID:21158681|PMID:21931733|PMID:21995344|PMID:22033296|PMID:22461308|PMID:22539353|PMID:23378218|PMID:23533228|PMID:23885230|PMID:24033266|PMID:24862881|PMID:25077900|PMID:25472840|PMID:25741868|PMID:25931334|PMID:26467025|PMID:26929907|PMID:27884173|PMID:27899157|PMID:28492532|PMID:29255181|PMID:29255276|PMID:29419413|PMID:30311386|PMID:31042289|PMID:32870266|PMID:9536098 11946727 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:1059 intellectual disability ISO RGD:1323630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25472840|PMID:25741868|PMID:28492532|PMID:30029678 11946727 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:10907 microcephaly ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11946727 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:11830 myopia ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868 11946727 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:13938 amenorrhea ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:18414213|PMID:21158681|PMID:22539353|PMID:24033266|PMID:25077900|PMID:25741868|PMID:28492532|PMID:32870266 11946727 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:14448 46,XY sex reversal ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY PMID:25741868|PMID:33189935 11946727 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:1459 hypothyroidism ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:25741868 11946727 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:1882 atrial heart septal defect ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 11946727 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:1921 Klinefelter syndrome ISO RGD:1323630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:15300250|PMID:16155193|PMID:18073582|PMID:20884005|PMID:21158681|PMID:22539353|PMID:25472840|PMID:25741868|PMID:28492532 11946727 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:3614 Kallmann syndrome ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadism with anosmia PMID:18414213|PMID:18445044|PMID:21158681|PMID:22461308|PMID:24033266|PMID:25077900|PMID:25741868|PMID:26467025|PMID:28475860|PMID:28492532|PMID:29304373 11946727 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:5426 primary ovarian insufficiency ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:24033266|PMID:25741868|PMID:28492532|PMID:31042289 11946727 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:630 genetic disease ISO RGD:1323630 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:10590394|PMID:14626219|PMID:15300250|PMID:15666308|PMID:16155193|PMID:16400610|PMID:16615981|PMID:16763960|PMID:17299439|PMID:17576681|PMID:17661815|PMID:17684005|PMID:18073582|PMID:18089695|PMID:18414213|PMID:18445044|PMID:18505430|PMID:18834967|PMID:19112063|PMID:20130577|PMID:20186815|PMID:20884005|PMID:21158681|PMID:21378379|PMID:21532573|PMID:21554267|PMID:21931733|PMID:21995344|PMID:22033296|PMID:22461308|PMID:22462537|PMID:22495309|PMID:22539353|PMID:23378218|PMID:23526466|PMID:23533228|PMID:23849776|PMID:23883829|PMID:23885230|PMID:24033266|PMID:24840056|PMID:24862881|PMID:25077900|PMID:25356970|PMID:25472840|PMID:25741868|PMID:25931334|PMID:26436962|PMID:26467025|PMID:26538304|PMID:26544072|PMID:26590800|PMID:26663670|PMID:26813943|PMID:27562378|PMID:27884173|PMID:27884859|PMID:27899157|PMID:28475860|PMID:28492532|PMID:29255181|PMID:29255276|PMID:29300383|PMID:29304373|PMID:30311386|PMID:31042289|PMID:32870266|PMID:7651832|PMID:9326634|PMID:9536098 11946727 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:630 genetic disease ISO RGD:1323630 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10590394|PMID:14626219|PMID:15300250|PMID:15666308|PMID:16155193|PMID:16400610|PMID:16615981|PMID:16763960|PMID:17299439|PMID:17576681|PMID:17661815|PMID:17684005|PMID:18073582|PMID:18089695|PMID:18414213|PMID:18445044|PMID:18505430|PMID:18834967|PMID:19112063|PMID:20130577|PMID:20186815|PMID:20453063|PMID:20624498|PMID:20884005|PMID:21158681|PMID:21378379|PMID:21532573|PMID:21554267|PMID:21931733|PMID:21995344|PMID:22033296|PMID:22461308|PMID:22462537|PMID:22495309|PMID:22539353|PMID:23024289|PMID:23378218|PMID:23526466|PMID:23533228|PMID:23849776|PMID:23883829|PMID:23885230|PMID:24033266|PMID:24368733|PMID:24840056|PMID:24862881|PMID:25077900|PMID:25356970|PMID:25472840|PMID:25741868|PMID:25931334|PMID:26436962|PMID:26467025|PMID:26538304|PMID:26544072|PMID:26590800|PMID:26663670|PMID:26813943|PMID:27562378|PMID:27884173|PMID:27884859|PMID:27899157|PMID:28166811|PMID:28191889|PMID:28475860|PMID:28492532|PMID:29255181|PMID:29255276|PMID:29300383|PMID:29304373|PMID:29419413|PMID:30311386|PMID:30653986|PMID:31042289|PMID:31395954|PMID:31564432|PMID:31689711|PMID:32185379|PMID:32870266|PMID:35047002|PMID:7651832|PMID:9326634|PMID:9536098 11946727 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:9001575 IRIS COLOBOMA ISO RGD:1323630 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Iris coloboma PMID:25741868 11946727 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:9002112 Growth Deficiency and Mental Retardation with Facial Dysmorphism ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wiedemann-Steiner syndrome 11946727 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1323630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11946727 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:9003232 Kallmann Syndrome 5 ISO RGD:1323630 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Kallmann syndrome 5 PMID:17576681|PMID:18834967|PMID:25741868|PMID:28492532|PMID:29419413|PMID:30311386|PMID:9536098 11946727 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:1323630 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 11946727 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 11946727 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:9004226 Hittner Hirsch Kreh Syndrome ISO RGD:1323630 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome PMID:17576681|PMID:17661815|PMID:18834967|PMID:25741868|PMID:28492532|PMID:29419413|PMID:30311386|PMID:9536098 11946727 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11946727 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:9004538 Hearing Loss ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 11946727 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:9008582 Developmental Disease ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11946774 ARSL arylsulfatase L gene DOID:0060041 autism spectrum disorder ISO RGD:14265589 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11946774 ARSL arylsulfatase L gene DOID:0060292 X-linked chondrodysplasia punctata 1 ISO RGD:1312633 D RGD:7240710 20181017 OMIM 11946774 ARSL arylsulfatase L gene DOID:0060292 X-linked chondrodysplasia punctata 1 ISO RGD:1312633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chondrodysplasia punctata, brachytelephalangic, autosomal | ClinVar Annotator: match by term: X-linked chondrodysplasia punctata 1 PMID:12567415|PMID:1557308|PMID:16199547|PMID:16937129|PMID:17576681|PMID:18348268|PMID:18414213|PMID:20301713|PMID:20523025|PMID:20598055|PMID:23462608|PMID:23470839|PMID:24033266|PMID:25741868|PMID:2722194|PMID:28257906|PMID:28492532|PMID:29565423|PMID:32860008|PMID:7720070|PMID:9409863|PMID:9497243|PMID:9536098|PMID:9863597 11946774 ARSL arylsulfatase L gene DOID:12849 autistic disorder ISO RGD:1312633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11946774 ARSL arylsulfatase L gene DOID:2581 chondrodysplasia punctata susceptibility ISO RGD:1312633 D RGD:9068941 20200609 RGD PMID:9409863|REF_RGD_ID:1599238 11946774 ARSL arylsulfatase L gene DOID:630 genetic disease ISO RGD:1312633 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11946774 ARSL arylsulfatase L gene DOID:65 connective tissue disease ISO RGD:1312633 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:18414213|PMID:25741868|PMID:28492532 11946774 ARSL arylsulfatase L gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11946798 C7H7orf57 chromosome 7 C7orf57 homolog gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1642900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11946798 C7H7orf57 chromosome 7 C7orf57 homolog gene DOID:630 genetic disease ISO RGD:1642900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946811 CLEC2B C-type lectin domain family 2 member B gene DOID:630 genetic disease ISO RGD:1604835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:0050127 sinusitis ISO RGD:732227 D RGD:9068941 20200609 RGD PMID:18396779|REF_RGD_ID:4892328 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:732227 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lymphoid tissue: PMID:15611350|REF_RGD_ID:4892608 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:0060224 atrial fibrillation ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:0080162 lupus nephritis ISO RGD:10691 D RGD:9068941 20200609 RGD PMID:21509671|REF_RGD_ID:7174713 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:0080162 lupus nephritis ISO RGD:732227 D RGD:9068941 20200609 RGD PMID:17880936|REF_RGD_ID:7174734 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:732227 D RGD:9068941 20200609 RGD mRNA:alternative form:blood, mononuclear cell PMID:20419394|REF_RGD_ID:7174729 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732227 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:10283 prostate cancer ISO RGD:732227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:10763 hypertension ISO RGD:10691 D RGD:9068941 20200609 RGD PMID:20659135|REF_RGD_ID:7174714 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:10763 hypertension ISO RGD:2741 D RGD:9068941 20200609 RGD associated with fetal nutrition disorder PMID:20674672|REF_RGD_ID:4892208 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:10763 hypertension ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18434569|PMID:20659135 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:10966 lipoid nephrosis disease_progression ISO RGD:732227 D RGD:9068941 20200609 RGD PMID:17890747|REF_RGD_ID:7174718 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:2741 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:22176470|REF_RGD_ID:7174741 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:11832 visual epilepsy ISO RGD:2741 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:20113635|REF_RGD_ID:4892123 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:1184 nephrotic syndrome treatment ISO RGD:732227 D RGD:9068941 20200609 RGD PMID:15833166|REF_RGD_ID:7174719 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:12236 primary biliary cholangitis ISO RGD:732227 D RGD:9068941 20200609 RGD mRNA:altered expression:leukocyte, mononuclear PMID:15635817|REF_RGD_ID:4892607 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:13141 uveitis ISO RGD:2741 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:ciliary body, iris PMID:23152847|REF_RGD_ID:7174735 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:13141 uveitis ISO RGD:2741 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina (rat) PMID:21724913|REF_RGD_ID:5490118 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:13406 pulmonary sarcoidosis ISO RGD:732227 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:2255800|REF_RGD_ID:4892566 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:1470 major depressive disorder ISO RGD:732227 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS2+646C>G (human) PMID:18246526|REF_RGD_ID:7174717 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:1596 depressive disorder ISO RGD:2741 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus (rat) PMID:21837980|REF_RGD_ID:5686290 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:1596 depressive disorder ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:1824 status epilepticus ISO RGD:2741 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus PMID:22050960|REF_RGD_ID:5686281 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:2055 post-traumatic stress disorder ISO RGD:2741 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:locus coeruleus (rat) PMID:21584742|REF_RGD_ID:5686336 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:2316 brain ischemia ISO RGD:2741 D RGD:9068941 20200609 RGD protein:decreased expression:brain cortex PMID:17344647|REF_RGD_ID:4892115 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:2320 obstructive lung disease ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9926163 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:2468 psychotic disorder ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:2841 asthma ISO RGD:732227 D RGD:9068941 20200609 RGD PMID:15295049|PMID:18396779|REF_RGD_ID:4892328|REF_RGD_ID:4892609 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:2841 asthma severity ISO RGD:732227 D RGD:9068941 20200609 RGD protein:increased expression, decreased activity:leukocyte, mononuclear PMID:18799869|REF_RGD_ID:4892594 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:2841 asthma susceptibility ISO RGD:732227 D RGD:9068941 20200609 RGD DNA:polymorphism:intron PMID:21113676|REF_RGD_ID:4892568 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:2841 asthma treatment ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:20727335|REF_RGD_ID:7174728 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:289 endometriosis ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:3082 interstitial lung disease disease_progression ISO RGD:732227 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:4028852|REF_RGD_ID:4892567 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732227 D RGD:9068941 20200609 RGD PMID:9926163|REF_RGD_ID:4892564 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732227 D RGD:9068941 20200609 RGD protein:decreased expression:lung, lymphocyte PMID:20450542|REF_RGD_ID:4892318 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:3312 bipolar disorder ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:3324 mood disorder ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29921868 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:3393 coronary artery disease ISO RGD:732227 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.N363S (human) PMID:12623935|REF_RGD_ID:1580790 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:732227 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:16806572|REF_RGD_ID:4892333 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:4194 glucose metabolism disease ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29802709 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:4450 renal cell carcinoma severity ISO RGD:732227 D RGD:9068941 20200609 RGD PMID:21531004|REF_RGD_ID:7174727 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:4450 renal cell carcinoma treatment ISO RGD:732227 D RGD:9068941 20200609 RGD PMID:18181043|REF_RGD_ID:7174733 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:446 primary hyperaldosteronism ISO RGD:10691 D RGD:9068941 20220825 MouseDO OMIM:605635 | OMIM:613677 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:4500 hypokalemia ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11932321 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:5419 schizophrenia ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030|PMID:21647420 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:6000 congestive heart failure treatment ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:21737535|REF_RGD_ID:7174712 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:630 genetic disease ISO RGD:732227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:7148 rheumatoid arthritis ISO RGD:2741 D RGD:9068941 20200609 RGD mRNA:increased expression:paw PMID:18448865|REF_RGD_ID:4892311 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:767 muscular atrophy ISO RGD:2741 D RGD:9068941 20200609 RGD protein:altered expression:nucleus PMID:17622304|REF_RGD_ID:4892297 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:783 end stage renal disease ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:18591458|REF_RGD_ID:7174716 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:83 cataract ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:12714641|REF_RGD_ID:4892118 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:850 lung disease ISO RGD:2741 D RGD:9068941 20200609 RGD Acute lung injury;protein:increased expression:lung PMID:17467318|REF_RGD_ID:4892201 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:850 lung disease disease_progression ISO RGD:732227 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:polymorphism:intron PMID:18047640|REF_RGD_ID:4892330 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:8689 anorexia nervosa ISO RGD:732227 D RGD:9068941 20200609 RGD protein:decreased activity:blood, mononuclear leukocyte PMID:10356629|REF_RGD_ID:7174723 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9000121 Malocclusion ISO RGD:2741 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:21751079|REF_RGD_ID:5686299 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9000197 Edema ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:19396522|REF_RGD_ID:4892316 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:20388836|REF_RGD_ID:4892120 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2741 D RGD:9068941 20200609 RGD associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney PMID:17272666|REF_RGD_ID:2308941 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10691 D RGD:9068941 20200609 RGD PMID:17322387|REF_RGD_ID:4892331 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:732227 D RGD:9068941 20200609 RGD protein:altered expression:nasal mucosa PMID:20185258|REF_RGD_ID:4892593 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9004283 Transplant Rejection ISO RGD:732227 D RGD:9068941 20200609 RGD protein:decreased activity:blood, mononuclear cell PMID:10959477|REF_RGD_ID:7174721 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9004484 Sepsis ISO RGD:10691 D RGD:9068941 20200609 RGD protein:decreased expression:alveolar macrophage PMID:21057058|REF_RGD_ID:4892317 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9004484 Sepsis treatment ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:21787473|REF_RGD_ID:7174711 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9005158 Cushing Syndrome ISO RGD:10691 D RGD:9068941 20200609 RGD PMID:10471508|PMID:19635986|REF_RGD_ID:7174715|REF_RGD_ID:7174722 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9005158 Cushing Syndrome ISO RGD:732227 D RGD:9068941 20200609 RGD protein:decreased activity:blood, mononuclear leukocyte PMID:10356629|REF_RGD_ID:7174723 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12805318|PMID:19234455 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2741 D RGD:9068941 20200609 RGD protein:increased expression:placenta PMID:21744335|REF_RGD_ID:12879479 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9005851 46, XX Disorders of Sex Development ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11932321 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9005930 Endotoxemia ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:15640646|REF_RGD_ID:4892561 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29802709 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732227 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9007096 Stroke ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:20858282|REF_RGD_ID:4892205 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9007730 Burns ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:11990926|REF_RGD_ID:7174720 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9007730 Burns treatment ISO RGD:2741 D RGD:9068941 20200609 RGD protein:decreased activity:liver, lung, kidney PMID:19216853|REF_RGD_ID:4892319 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9008669 Glucocorticoid Receptor Deficiency ISO RGD:732227 D RGD:7240710 20180130 OMIM 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9008669 Glucocorticoid Receptor Deficiency ISO RGD:732227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucocorticoid resistance | ClinVar Annotator: match by term: Glucocorticoid resistance, cellular | ClinVar Annotator: match by term: Glucocorticoid resistance, relative | ClinVar Annotator: match by term: Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance PMID:11344238|PMID:11589680|PMID:11701741|PMID:11932321|PMID:12351458|PMID:14715855|PMID:15276593|PMID:15292341|PMID:15497438|PMID:16030164|PMID:16449337|PMID:16636127|PMID:1704018|PMID:17535992|PMID:17848410|PMID:186477|PMID:18854398|PMID:19435830|PMID:21912096|PMID:22445700|PMID:25741868|PMID:28492532|PMID:2996089|PMID:6282933|PMID:6841559|PMID:8316249|PMID:8445027|PMID:9150737|PMID:9435432 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9282 ocular hypertension ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17563720 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:17292727|REF_RGD_ID:4892117 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9970 obesity ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:20723946|REF_RGD_ID:4892206 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9970 obesity ISO RGD:732227 D RGD:9068941 20200609 RGD associated with Depressive Disorder, Major;DNA:SNP:intron:IVS2+646C>G (human) PMID:18246526|REF_RGD_ID:7174717 11946820 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9970 obesity no_association ISO RGD:732227 D RGD:9068941 20200609 RGD protein:polymorphism:N363S PMID:16725041|REF_RGD_ID:1601498 11946844 ZNF608 zinc finger protein 608 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1315658 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11946844 ZNF608 zinc finger protein 608 gene DOID:630 genetic disease ISO RGD:1315658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946844 ZNF608 zinc finger protein 608 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11946844 ZNF608 zinc finger protein 608 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315658 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11946870 IFT88 intraflagellar transport 88 gene DOID:0050572 cone-rod dystrophy ISO RGD:1320207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:25741868|PMID:28492532 11946870 IFT88 intraflagellar transport 88 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1320207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:29068549 11946870 IFT88 intraflagellar transport 88 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1320207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9362446 11946870 IFT88 intraflagellar transport 88 gene DOID:0110253 cataract 14 multiple types ISO RGD:1320207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types PMID:28492532 11946870 IFT88 intraflagellar transport 88 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1320207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:28492532 11946870 IFT88 intraflagellar transport 88 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1320207 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:28492532 11946870 IFT88 intraflagellar transport 88 gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:1320207 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:28492532 11946870 IFT88 intraflagellar transport 88 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1320207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8191288|PMID:8608416 11946870 IFT88 intraflagellar transport 88 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1551338 D RGD:9068941 20220825 MouseDO OMIM:263200 11946870 IFT88 intraflagellar transport 88 gene DOID:10325 silicosis ISO RGD:1309717 D RGD:9068941 20230105 RGD protein:decreased expression:lung PMID:32042332|REF_RGD_ID:155791682 11946870 IFT88 intraflagellar transport 88 gene DOID:1148 polydactyly ISO RGD:1320207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12701101 11946870 IFT88 intraflagellar transport 88 gene DOID:12858 Huntington's disease ISO RGD:1551338 D RGD:9068941 20200609 RGD protein:altered localization:cilia PMID:25989602|REF_RGD_ID:13432581 11946870 IFT88 intraflagellar transport 88 gene DOID:14693 Clouston syndrome ISO RGD:1320207 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia PMID:28492532 11946870 IFT88 intraflagellar transport 88 gene DOID:2121 ectodermal dysplasia ISO RGD:1320207 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 11946870 IFT88 intraflagellar transport 88 gene DOID:61 mitral valve disease ISO RGD:1551338 D RGD:9068941 20220825 MouseDO 11946870 IFT88 intraflagellar transport 88 gene DOID:630 genetic disease ISO RGD:1320207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11946870 IFT88 intraflagellar transport 88 gene DOID:9007188 Liver Neoplasms ISO RGD:1320207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9362446 11946870 IFT88 intraflagellar transport 88 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11946929 BAIAP2 BAR/IMD domain containing adaptor protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:732926 D RGD:9068941 20200609 RGD DNA:snp:intron:c.230-1933G>C (rs11657991) (human) PMID:20888579|REF_RGD_ID:11576292 11946929 BAIAP2 BAR/IMD domain containing adaptor protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:732927 D RGD:9068941 20200609 RGD mRNA:decreased expression:forebrain (mouse) PMID:25600067|REF_RGD_ID:11097581 11946929 BAIAP2 BAR/IMD domain containing adaptor protein 2 gene DOID:10652 Alzheimer's disease ISO RGD:732926 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex, postsynaptic density (human) PMID:23537733|REF_RGD_ID:11576299 11946929 BAIAP2 BAR/IMD domain containing adaptor protein 2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:732926 D RGD:9068941 20200609 RGD DNA:snps:introns:multiple (human) PMID:24377651|REF_RGD_ID:11576297 11946929 BAIAP2 BAR/IMD domain containing adaptor protein 2 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:732926 D RGD:9068941 20200609 RGD DNA:snps, haplotype:multiple (human) PMID:15303240|REF_RGD_ID:11576298 11946929 BAIAP2 BAR/IMD domain containing adaptor protein 2 gene DOID:630 genetic disease ISO RGD:732926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946929 BAIAP2 BAR/IMD domain containing adaptor protein 2 gene DOID:9006832 Puromycin Aminonucleoside Nephrosis ISO RGD:619814 D RGD:9068941 20200609 RGD protein:increased expression:glomerular visceral epithelial cell PMID:17569780|REF_RGD_ID:9684990 11946954 NOL9 nucleolar protein 9 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1605957 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11946954 NOL9 nucleolar protein 9 gene DOID:630 genetic disease ISO RGD:1605957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946954 NOL9 nucleolar protein 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:0050553 JMP syndrome ISO RGD:1349475 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:0060500 drug allergy ISO RGD:1349475 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:16538175 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:0080855 Parkinsonism ISO RGD:1349475 D RGD:9068941 20200611 RGD PMID:15585408|REF_RGD_ID:5147599 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:0081267 graft-versus-host disease severity ISO RGD:1593284 D RGD:9068941 20200611 RGD mRNA:increased expression:skin PMID:18580475|REF_RGD_ID:8662845 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:10652 Alzheimer's disease ISO RGD:1349475 D RGD:9068941 20200611 RGD DNA:polymorphism: :-110A>C(human) PMID:15832029|REF_RGD_ID:10402403 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:11054 urinary bladder cancer treatment ISO RGD:1349475 D RGD:9068941 20200611 RGD PMID:19914824|REF_RGD_ID:7242743 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:11832 visual epilepsy severity ISO RGD:1349475 D RGD:9068941 20200611 RGD protein:increased expression:cerebral spinal fluid: PMID:22509781|REF_RGD_ID:7257648 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:1229 paranoid schizophrenia susceptibility ISO RGD:1349475 D RGD:9068941 20200611 RGD DNA:SNP: :190G>C(human) PMID:23893339|REF_RGD_ID:7257645 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:12306 vitiligo treatment ISO RGD:1349475 D RGD:9068941 20200611 RGD PMID:23447019|REF_RGD_ID:8662840 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:1287 cardiovascular system disease disease_progression ISO RGD:1349475 D RGD:9068941 20200611 RGD associated with Cardiovascular Diseases; protein:increased expression:blood: PMID:23321917|REF_RGD_ID:7257647 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:13378 Kawasaki disease ISO RGD:1349475 D RGD:9068941 20200611 RGD DNA:polymorphism:5' utr:190G>C (rs1043618) (human) PMID:23870089|REF_RGD_ID:8662464 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:14330 Parkinson's disease ISO RGD:1349475 D RGD:9068941 20200611 CTD CTD Direct Evidence: therapeutic PMID:15585408 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:1470 major depressive disorder ISO RGD:1349475 D RGD:9068941 20200611 RGD DNA:SNP: :rs1043618 (human) PMID:17428599|REF_RGD_ID:5147598 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:1485 cystic fibrosis ISO RGD:1349475 D RGD:9068941 20200611 RGD DNA:polymorphism, haplotype: :1267A>G (human) PMID:21993476|REF_RGD_ID:6767553 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:1824 status epilepticus ISO RGD:1349475 D RGD:9068941 20200611 RGD protein:increased expression:cerebral spinal fluid: PMID:22509781|REF_RGD_ID:7257648 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:1909 melanoma ISO RGD:1349475 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:26984758 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:1936 atherosclerosis ISO RGD:1349475 D RGD:9068941 20200611 RGD PMID:20490736|REF_RGD_ID:5147595 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:1936 atherosclerosis ISO RGD:1349475 D RGD:9068941 20200611 RGD DNA:SNP:promoter:-110A>C(rs1008438) (human) PMID:22328194|REF_RGD_ID:7257649 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:3021 acute kidney failure ISO RGD:1349475 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:12690470|PMID:19546256 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1349475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1349475 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:17234771 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:409 liver disease ISO RGD:1349475 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:5419 schizophrenia ISO RGD:1349475 D RGD:9068941 20200611 RGD DNA:missense mutation, SNP, haplotype:cds, 5' utr: (rs562047, rs1043618) (human) PMID:18299791|REF_RGD_ID:5147596 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:630 genetic disease ISO RGD:1349475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:8725 vascular dementia ISO RGD:1349475 D RGD:9068941 20200611 RGD DNA:polymorphism: :-110A>C(human) PMID:15832029|REF_RGD_ID:10402403 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:9000528 Coronary Disease ISO RGD:1349475 D RGD:9068941 20200611 RGD DNA:SNPs: : -110A>C (rs1008438), 190G>C (rs1043618) (human) PMID:19333379|REF_RGD_ID:7257652 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349475 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:26984758 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:9000998 Brain Injuries ISO RGD:1349475 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:9000998 Brain Injuries ISO RGD:1558069 D RGD:9068941 20200611 RGD mRNA:increased expression:brain PMID:21549006|REF_RGD_ID:5147593 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:9001103 Heat Stress Disorders ISO RGD:1349475 D RGD:9068941 20200611 CTD CTD Direct Evidence: therapeutic PMID:16627676 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1349475 D RGD:9068941 20200611 RGD DNA:SNP: :190G>C(human) PMID:21849784|REF_RGD_ID:7257650 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:9001708 Hemorrhagic Shock ISO RGD:1593284 D RGD:9068941 20200611 RGD mRNA:increased expression:liver PMID:22266570|REF_RGD_ID:7257601 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:9002165 Diabetic Nephropathies ISO RGD:1349475 D RGD:9068941 20200611 RGD associated with Diabetes Mellitus, Type 2 PMID:18518860|REF_RGD_ID:7242747 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349475 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:15764345 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:9002819 Coronary Occlusion ISO RGD:1349475 D RGD:9068941 20200611 RGD mRNA:increased expression:heart: PMID:21439970|REF_RGD_ID:7257651 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1349475 D RGD:9068941 20200611 RGD DNA:SNP, haplotype: :rs1043618 (human) PMID:17009596|REF_RGD_ID:8662466 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1593284 D RGD:9068941 20200611 RGD PMID:22526757|REF_RGD_ID:7257595 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:9003817 Sudden Hearing Loss ISO RGD:1349475 D RGD:9068941 20200611 RGD DNA:SNP, haplotype: :rs1043618 (human) PMID:22922572|REF_RGD_ID:8662465 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:9004009 Reperfusion Injury ISO RGD:1349475 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:7922267 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:9004332 Osteoarthritis, Experimental treatment ISO RGD:1593284 D RGD:9068941 20200611 RGD PMID:16394269|REF_RGD_ID:10402538 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:9007102 Myocardial Ischemia ISO RGD:1349475 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:9074 systemic lupus erythematosus ISO RGD:1349475 D RGD:9068941 20200611 RGD DNA:SNP: :rs1043618 (human) PMID:20498198|REF_RGD_ID:5147600 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:9651 systolic heart failure disease_progression ISO RGD:1349475 D RGD:9068941 20200611 RGD protein:increased expression:serum: PMID:23564583|REF_RGD_ID:7257646 11946970 HSPA1A heat shock protein family A (Hsp70) member 1A gene DOID:9849 Meniere's disease susceptibility ISO RGD:1349475 D RGD:9068941 20200611 RGD DNA:SNP: :190G>C(human) PMID:19241595|REF_RGD_ID:7257654 11946976 RFFL ring finger and FYVE like domain containing E3 ubiquitin protein ligase gene DOID:10763 hypertension ISO RGD:727916 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:heart PMID:21357277|REF_RGD_ID:13442502 11946976 RFFL ring finger and FYVE like domain containing E3 ubiquitin protein ligase gene DOID:630 genetic disease ISO RGD:1605590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946976 RFFL ring finger and FYVE like domain containing E3 ubiquitin protein ligase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11946996 PAQR6 progestin and adipoQ receptor family member 6 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11946996 PAQR6 progestin and adipoQ receptor family member 6 gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis PMID:24886237 11946996 PAQR6 progestin and adipoQ receptor family member 6 gene DOID:0111940 immunodeficiency 42 ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11946996 PAQR6 progestin and adipoQ receptor family member 6 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11946996 PAQR6 progestin and adipoQ receptor family member 6 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1323634 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11946996 PAQR6 progestin and adipoQ receptor family member 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11946996 PAQR6 progestin and adipoQ receptor family member 6 gene DOID:5812 MHC class II deficiency ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11946996 PAQR6 progestin and adipoQ receptor family member 6 gene DOID:585 nephrolithiasis ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis PMID:24886237 11946996 PAQR6 progestin and adipoQ receptor family member 6 gene DOID:630 genetic disease ISO RGD:1323634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11946996 PAQR6 progestin and adipoQ receptor family member 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11947051 TM9SF3 transmembrane 9 superfamily member 3 gene DOID:630 genetic disease ISO RGD:1604607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11947069 OVCH2 ovochymase 2 gene DOID:630 genetic disease ISO RGD:1602408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11947086 WDR83OS WD repeat domain 83 opposite strand gene DOID:0050990 episodic ataxia type 2 ISO RGD:1605383 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11947086 WDR83OS WD repeat domain 83 opposite strand gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1605383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11947086 WDR83OS WD repeat domain 83 opposite strand gene DOID:0111254 glutaric acidemia I ISO RGD:1605383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11947086 WDR83OS WD repeat domain 83 opposite strand gene DOID:3413 alpha-mannosidosis ISO RGD:1605383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:22161967|PMID:28492532|PMID:32331969|PMID:9915946 11947086 WDR83OS WD repeat domain 83 opposite strand gene DOID:630 genetic disease ISO RGD:1605383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11947094 KCNS3 potassium voltage-gated channel modifier subfamily S member 3 gene DOID:0060041 autism spectrum disorder ISO RGD:731286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11947094 KCNS3 potassium voltage-gated channel modifier subfamily S member 3 gene DOID:630 genetic disease ISO RGD:731286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11947110 UBIAD1 UbiA prenyltransferase domain containing 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1603400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11947110 UBIAD1 UbiA prenyltransferase domain containing 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603400 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11947110 UBIAD1 UbiA prenyltransferase domain containing 1 gene DOID:0060456 Schnyder corneal dystrophy ISO RGD:1603400 D RGD:7240710 20180130 OMIM 11947110 UBIAD1 UbiA prenyltransferase domain containing 1 gene DOID:0060456 Schnyder corneal dystrophy ISO RGD:1603400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Schnyder crystalline corneal dystrophy PMID:15034782|PMID:17668063|PMID:17962451|PMID:18176953|PMID:20505825|PMID:23169578|PMID:23564352|PMID:25741868|PMID:28492532|PMID:3486394|PMID:8190477|PMID:9450854 11947110 UBIAD1 UbiA prenyltransferase domain containing 1 gene DOID:630 genetic disease ISO RGD:1603400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11947110 UBIAD1 UbiA prenyltransferase domain containing 1 gene DOID:9002860 Cardiac Edema ISO RGD:1603400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23533172 11947110 UBIAD1 UbiA prenyltransferase domain containing 1 gene DOID:9003104 Intracranial Hemorrhages ISO RGD:1603400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23533172 11947110 UBIAD1 UbiA prenyltransferase domain containing 1 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1603400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 11947116 KIF15 kinesin family member 15 gene DOID:0080600 COVID-19 ISO RGD:1351410 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11947116 KIF15 kinesin family member 15 gene DOID:2986 IgA glomerulonephritis ISO RGD:1351410 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 11947116 KIF15 kinesin family member 15 gene DOID:3770 pulmonary fibrosis ISO RGD:1351410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:35417304 11947116 KIF15 kinesin family member 15 gene DOID:630 genetic disease ISO RGD:1351410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11947116 KIF15 kinesin family member 15 gene DOID:684 hepatocellular carcinoma ISO RGD:1351410 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11947116 KIF15 kinesin family member 15 gene DOID:9000152 Braddock-Carey Syndrome 2 ISO RGD:1351410 D RGD:7240710 20220810 OMIM 11947116 KIF15 kinesin family member 15 gene DOID:9000152 Braddock-Carey Syndrome 2 ISO RGD:1351410 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Braddock-Carey syndrome 2 PMID:28150392 11947159 ANKRD9 ankyrin repeat domain 9 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1316983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11947159 ANKRD9 ankyrin repeat domain 9 gene DOID:0110801 hereditary spastic paraplegia 49 ISO RGD:1316983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 49 PMID:28492532 11947159 ANKRD9 ankyrin repeat domain 9 gene DOID:630 genetic disease ISO RGD:1316983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11947159 ANKRD9 ankyrin repeat domain 9 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1316983 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11947171 PTPRU protein tyrosine phosphatase receptor type U gene DOID:10763 hypertension susceptibility ISO RGD:1331918 D RGD:9068941 20200611 RGD PMID:11086029|REF_RGD_ID:1642652 11947171 PTPRU protein tyrosine phosphatase receptor type U gene DOID:10976 membranous glomerulonephritis ISO RGD:620782 D RGD:9068941 20200611 RGD mRNA, protein:decreased expression:glomerulus PMID:17457373|REF_RGD_ID:1642654 11947171 PTPRU protein tyrosine phosphatase receptor type U gene DOID:2527 nephrosis ISO RGD:620782 D RGD:9068941 20200611 RGD mRNA, protein:decreased expression:glomerulus PMID:17457373|REF_RGD_ID:1642654 11947171 PTPRU protein tyrosine phosphatase receptor type U gene DOID:630 genetic disease ISO RGD:1353626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11947171 PTPRU protein tyrosine phosphatase receptor type U gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620782 D RGD:9068941 20200611 RGD protein:decreased expression:glomerulus PMID:16539708|REF_RGD_ID:1642656 11947171 PTPRU protein tyrosine phosphatase receptor type U gene DOID:9007661 Dwarfism ISO RGD:1353626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11947210 FKRP fukutin related protein gene DOID:0050559 Fukuyama congenital muscular dystrophy ISO RGD:1314133 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 PMID:25741868 11947210 FKRP fukutin related protein gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1314133 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20623375|PMID:20675713|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26990548|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:32115343|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32746448|PMID:32864802|PMID:33077954|PMID:34008892|PMID:34653404 11947210 FKRP fukutin related protein gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20623375|PMID:20675713|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26990548|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:32115343|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32746448|PMID:32864802|PMID:33077954|PMID:33200426|PMID:34008892|PMID:34653404 11947210 FKRP fukutin related protein gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1314133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34509255|PMID:34602496|PMID:34653404 11947210 FKRP fukutin related protein gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1314133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34509255|PMID:34602496|PMID:34653404 11947210 FKRP fukutin related protein gene DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ISO RGD:1314134 D RGD:9068941 20220825 MouseDO OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 11947210 FKRP fukutin related protein gene DOID:0050700 cardiomyopathy ISO RGD:1314133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:16368217|PMID:21816046|PMID:24556424|PMID:25741868|PMID:26467025|PMID:26990548|PMID:28492532 11947210 FKRP fukutin related protein gene DOID:0050700 cardiomyopathy ISO RGD:1314133 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:11741828|PMID:16344347|PMID:16368217|PMID:17994539|PMID:18832576|PMID:21816046|PMID:22451200|PMID:24556424|PMID:25741868|PMID:26467025|PMID:26990548|PMID:27884173|PMID:28492532|PMID:28688748 11947210 FKRP fukutin related protein gene DOID:0080000 muscular disease ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:11741828|PMID:12666124|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31268217|PMID:34008892|PMID:34653404 11947210 FKRP fukutin related protein gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1314133 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy PMID:11741828|PMID:12666124|PMID:12707439|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31268217|PMID:32419263|PMID:32746448|PMID:34008892|PMID:34653404 11947210 FKRP fukutin related protein gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1314133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:11741828|PMID:12666124|PMID:12707439|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17952692|PMID:18060779|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29382405|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31931849|PMID:32115343|PMID:32419263|PMID:32429923|PMID:32746448|PMID:34008892|PMID:34653404 11947210 FKRP fukutin related protein gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1314133 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:11741828|PMID:12666124|PMID:12707439|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17952692|PMID:18060779|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:27302555|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29382405|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31931849|PMID:32115343|PMID:32419263|PMID:32429923|PMID:32746448|PMID:34008892|PMID:34653404 11947210 FKRP fukutin related protein gene DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I ISO RGD:1314133 D RGD:7240710 20180130 OMIM 11947210 FKRP fukutin related protein gene DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I ISO RGD:1314133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2I | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 9 PMID:11053680|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16288869|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19833706|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20623375|PMID:20675713|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:33077954|PMID:33200426|PMID:34008892|PMID:34509255|PMID:34602496|PMID:34653404 11947210 FKRP fukutin related protein gene DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I treatment ISO RGD:1314133 D RGD:9068941 20200609 RGD PMID:25048216|REF_RGD_ID:11667961 11947210 FKRP fukutin related protein gene DOID:0110635 muscular dystrophy-dystroglycanopathy type B5 ISO RGD:1314133 D RGD:7240710 20180130 OMIM 11947210 FKRP fukutin related protein gene DOID:0110635 muscular dystrophy-dystroglycanopathy type B5 ISO RGD:1314133 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B5 PMID:11053680|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:14652796|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18752264|PMID:18832576|PMID:19244252|PMID:19705481|PMID:19820980|PMID:19833706|PMID:19835634|PMID:19900540|PMID:19955119|PMID:20675713|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:22264518|PMID:22451200|PMID:22981120|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23894383|PMID:24033266|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27439679|PMID:27627455|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29382405|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32429923|PMID:32746448|PMID:32864802|PMID:33077954|PMID:33200426|PMID:34008892|PMID:34653404 11947210 FKRP fukutin related protein gene DOID:0110644 long QT syndrome 1 ISO RGD:1314133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:28492532 11947210 FKRP fukutin related protein gene DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ISO RGD:1314133 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32429923|PMID:32746448|PMID:33077954|PMID:33200426|PMID:34008892|PMID:34653404 11947210 FKRP fukutin related protein gene DOID:0111241 congenital muscular dystrophy-dystroglycanopathy type A5 ISO RGD:1314133 D RGD:7240710 20180130 OMIM 11947210 FKRP fukutin related protein gene DOID:0111241 congenital muscular dystrophy-dystroglycanopathy type A5 ISO RGD:1314133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 PMID:11592034|PMID:11741828|PMID:12471058|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:14652796|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19955119|PMID:20236121|PMID:20675713|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:22264518|PMID:22451200|PMID:22981120|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27439679|PMID:27627455|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29382405|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32429923|PMID:32746448|PMID:33077954|PMID:33200426|PMID:34008892|PMID:34653404 11947210 FKRP fukutin related protein gene DOID:0112374 muscular dystrophy-dystroglycanopathy ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy PMID:11741828|PMID:12666124|PMID:12707439|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:18671187|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31268217|PMID:32419263|PMID:34008892|PMID:34653404 11947210 FKRP fukutin related protein gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:11741828|PMID:12666124|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31268217|PMID:34008892|PMID:34653404 11947210 FKRP fukutin related protein gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314133 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:11741828|PMID:16344347|PMID:16368217|PMID:17994539|PMID:18832576|PMID:21816046|PMID:22451200|PMID:24556424|PMID:25741868|PMID:26467025|PMID:26990548|PMID:27884173|PMID:28492532|PMID:28688748 11947210 FKRP fukutin related protein gene DOID:12930 dilated cardiomyopathy ISO RGD:1314133 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11741828|PMID:16344347|PMID:17994539|PMID:18832576|PMID:22451200|PMID:25741868|PMID:27884173|PMID:28492532|PMID:28688748 11947210 FKRP fukutin related protein gene DOID:423 myopathy ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy PMID:11741828|PMID:12666124|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31268217|PMID:34008892|PMID:34653404 11947210 FKRP fukutin related protein gene DOID:630 genetic disease ISO RGD:1314133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11947210 FKRP fukutin related protein gene DOID:9000053 Headache ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Headache PMID:11741828|PMID:12666124|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31268217|PMID:34008892|PMID:34653404 11947210 FKRP fukutin related protein gene DOID:9000887 Muscular Dystrophy, Animal ISO RGD:1314134 D RGD:9068941 20200609 RGD PMID:21224063|REF_RGD_ID:11667970 11947210 FKRP fukutin related protein gene DOID:9000887 Muscular Dystrophy, Animal ISO RGD:1314134 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.P448L (1343C>T) (mouse) PMID:20675713|REF_RGD_ID:11667960 11947210 FKRP fukutin related protein gene DOID:9003242 Paresthesia ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Paresthesia PMID:11741828|PMID:12666124|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31268217|PMID:34008892|PMID:34653404 11947210 FKRP fukutin related protein gene DOID:9005532 Muscle Weakness ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:11741828|PMID:12666124|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31268217|PMID:34008892|PMID:34653404 11947210 FKRP fukutin related protein gene DOID:9006181 Congenital Muscular Dystrophy with Central Nervous System Involvement ISO RGD:1314133 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement PMID:25741868 11947210 FKRP fukutin related protein gene DOID:9007114 Mobility Limitation ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Difficulty walking PMID:11741828|PMID:12666124|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31268217|PMID:34008892|PMID:34653404 11947210 FKRP fukutin related protein gene DOID:9884 muscular dystrophy ISO RGD:1314133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:17336067|PMID:25741868|PMID:28492532|PMID:29065428|PMID:31041397|PMID:31671740|PMID:31931849|PMID:34653404 11947223 ANXA2 annexin A2 gene DOID:0080600 COVID-19 ISO RGD:736099 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11947223 ANXA2 annexin A2 gene DOID:10159 osteonecrosis ISO RGD:736099 D RGD:9068941 20200609 RGD PMID:15784727|REF_RGD_ID:1578382 11947223 ANXA2 annexin A2 gene DOID:11476 osteoporosis ISO RGD:736099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 11947223 ANXA2 annexin A2 gene DOID:1350 paranasal sinus benign neoplasm disease_progression ISO RGD:736099 D RGD:9068941 20200609 RGD PMID:20970165|REF_RGD_ID:7421559 11947223 ANXA2 annexin A2 gene DOID:1459 hypothyroidism ISO RGD:621170 D RGD:9068941 20200609 RGD protein:increased expression:thyroid gland: PMID:9022675|REF_RGD_ID:2306952 11947223 ANXA2 annexin A2 gene DOID:1749 squamous cell carcinoma ISO RGD:736099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 11947223 ANXA2 annexin A2 gene DOID:1790 malignant mesothelioma ISO RGD:736099 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:20682992 11947223 ANXA2 annexin A2 gene DOID:2717 Bloom syndrome ISO RGD:736099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11947223 ANXA2 annexin A2 gene DOID:3008 invasive ductal carcinoma treatment ISO RGD:736099 D RGD:9068941 20200609 RGD PMID:19171478|REF_RGD_ID:7421560 11947223 ANXA2 annexin A2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:736099 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, altered localization:pancreas, plasma membrane PMID:16450333|REF_RGD_ID:2325731 11947223 ANXA2 annexin A2 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:736099 D RGD:9068941 20200609 RGD PMID:19260470|REF_RGD_ID:2317307 11947223 ANXA2 annexin A2 gene DOID:4450 renal cell carcinoma ISO RGD:621170 D RGD:9068941 20200609 RGD PMID:14587099|REF_RGD_ID:7421570 11947223 ANXA2 annexin A2 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:736099 D RGD:9068941 20200609 RGD PMID:20493868|REF_RGD_ID:2325728 11947223 ANXA2 annexin A2 gene DOID:630 genetic disease ISO RGD:736099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11947223 ANXA2 annexin A2 gene DOID:684 hepatocellular carcinoma ISO RGD:736099 D RGD:9068941 20220721 RGD mRNA, protein:increased expression:liver (human) PMID:33675609|REF_RGD_ID:152999436 11947223 ANXA2 annexin A2 gene DOID:7998 hyperthyroidism ISO RGD:621170 D RGD:9068941 20200609 RGD protein:decreased expression:thyroid gland: PMID:9022675|REF_RGD_ID:2306952 11947223 ANXA2 annexin A2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:621170 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:neuron,glial cell PMID:15248295|REF_RGD_ID:10053688 11947223 ANXA2 annexin A2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22248470 11947223 ANXA2 annexin A2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11947223 ANXA2 annexin A2 gene DOID:9002331 Knee Osteoarthritis disease_progression ISO RGD:736099 D RGD:9068941 20200609 RGD protein:increased expression:chondrocyte: PMID:10903884|REF_RGD_ID:10053727 11947223 ANXA2 annexin A2 gene DOID:9002457 Experimental Arthritis ameliorates ISO RGD:621170 D RGD:9068941 20211015 RGD PMID:24819400|REF_RGD_ID:150519886 11947223 ANXA2 annexin A2 gene DOID:9003936 Cardiomegaly ISO RGD:621170 D RGD:9068941 20200609 RGD mRNA:increased expression:heart: PMID:10603972|REF_RGD_ID:10053694 11947223 ANXA2 annexin A2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15654357 11947223 ANXA2 annexin A2 gene DOID:9004657 Weight Gain ISO RGD:736099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11947223 ANXA2 annexin A2 gene DOID:9005172 Lung Neoplasms ISO RGD:736099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20682992 11947223 ANXA2 annexin A2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621170 D RGD:9068941 20200609 RGD protein:increased glycation:respiratory system blood vessel endothelium PMID:11423489|REF_RGD_ID:2306888 11947223 ANXA2 annexin A2 gene DOID:9007188 Liver Neoplasms ISO RGD:736099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11947223 ANXA2 annexin A2 gene DOID:9007364 Mouth Neoplasms ISO RGD:736099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 11947223 ANXA2 annexin A2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11947223 ANXA2 annexin A2 gene DOID:9007417 Pseudomonas Infections severity ISO RGD:731825 D RGD:9068941 20200924 RGD PMID:26371245|REF_RGD_ID:38676497 11947223 ANXA2 annexin A2 gene DOID:9119 acute myeloid leukemia ISO RGD:736099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11947223 ANXA2 annexin A2 gene DOID:9256 colorectal cancer ISO RGD:736099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11947243 CXXC1 CXXC finger protein 1 gene DOID:1059 intellectual disability ISO RGD:1321844 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11947243 CXXC1 CXXC finger protein 1 gene DOID:630 genetic disease ISO RGD:1321844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11947268 SNX11 sorting nexin 11 gene DOID:630 genetic disease ISO RGD:1316444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11947311 CEP70 centrosomal protein 70 gene DOID:0050567 orofacial cleft ISO RGD:1601960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Median cleft lip and palate PMID:19254375|PMID:25741868|PMID:31680349 11947311 CEP70 centrosomal protein 70 gene DOID:630 genetic disease ISO RGD:1601960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11947325 NRP1 neuropilin 1 gene DOID:1727 retinal vein occlusion ISO RGD:1552955 D RGD:9068941 20220825 MouseDO 11947325 NRP1 neuropilin 1 gene DOID:1793 pancreatic cancer ISO RGD:733081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15956974 11947325 NRP1 neuropilin 1 gene DOID:289 endometriosis ISO RGD:733081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 11947325 NRP1 neuropilin 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:733081 D RGD:9068941 20210514 RGD DNA, protein:CNVs, increased expression:lung PMID:25561764|REF_RGD_ID:126925188 11947325 NRP1 neuropilin 1 gene DOID:409 liver disease ISO RGD:733081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11947325 NRP1 neuropilin 1 gene DOID:630 genetic disease ISO RGD:733081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11947325 NRP1 neuropilin 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:733081 D RGD:9068941 20210507 RGD protein:decreased expression:liver PMID:25333267|REF_RGD_ID:126848812 11947325 NRP1 neuropilin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11947325 NRP1 neuropilin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1552955 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle PMID:16816123|REF_RGD_ID:2313725 11947364 PI4K2B phosphatidylinositol 4-kinase type 2 beta gene DOID:630 genetic disease ISO RGD:1602326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11947385 NDN necdin, MAGE family member gene DOID:0060041 autism spectrum disorder ISO RGD:1321479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 11947385 NDN necdin, MAGE family member gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1321479 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 11947385 NDN necdin, MAGE family member gene DOID:11983 Prader-Willi syndrome ISO RGD:1321479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:25741868|PMID:28631899 11947385 NDN necdin, MAGE family member gene DOID:12849 autistic disorder ISO RGD:1321479 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 11947385 NDN necdin, MAGE family member gene DOID:1932 Angelman syndrome ISO RGD:1321479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:24088041|PMID:26633545 11947385 NDN necdin, MAGE family member gene DOID:305 carcinoma ISO RGD:1321479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 11947385 NDN necdin, MAGE family member gene DOID:5419 schizophrenia ISO RGD:1321479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11947385 NDN necdin, MAGE family member gene DOID:630 genetic disease ISO RGD:1321479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11947385 NDN necdin, MAGE family member gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1321479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 11947385 NDN necdin, MAGE family member gene DOID:9003996 Birth Weight ISO RGD:1321479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31082282 11947385 NDN necdin, MAGE family member gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11947410 EXOC8 exocyst complex component 8 gene DOID:0050777 Joubert syndrome ISO RGD:1343470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:22700954 11947410 EXOC8 exocyst complex component 8 gene DOID:1540 parathyroid carcinoma ISO RGD:1343470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11947410 EXOC8 exocyst complex component 8 gene DOID:630 genetic disease ISO RGD:1343470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11947410 EXOC8 exocyst complex component 8 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1343470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 11947410 EXOC8 exocyst complex component 8 gene DOID:9007897 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY ISO RGD:1343470 D RGD:7240710 20210120 OMIM 11947410 EXOC8 exocyst complex component 8 gene DOID:9007897 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY ISO RGD:1343470 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy PMID:25741868|PMID:28492532|PMID:32103185 11947410 EXOC8 exocyst complex component 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11947415 SPRN shadow of prion protein gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1602790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11947415 SPRN shadow of prion protein gene DOID:630 genetic disease ISO RGD:1602790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11947421 SLC15A5 solute carrier family 15 member 5 gene DOID:630 genetic disease ISO RGD:2302456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11947432 UBA6 ubiquitin like modifier activating enzyme 6 gene DOID:630 genetic disease ISO RGD:1605374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11947432 UBA6 ubiquitin like modifier activating enzyme 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11947480 ZNF764 zinc finger protein 764 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1606477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11947480 ZNF764 zinc finger protein 764 gene DOID:630 genetic disease ISO RGD:1606477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11947542 PWP2 PWP2 small subunit processome component gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1317740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 11947542 PWP2 PWP2 small subunit processome component gene DOID:0110266 cataract 9 multiple types ISO RGD:1317740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11947542 PWP2 PWP2 small subunit processome component gene DOID:12849 autistic disorder ISO RGD:1317740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11947542 PWP2 PWP2 small subunit processome component gene DOID:630 genetic disease ISO RGD:1317740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11947542 PWP2 PWP2 small subunit processome component gene DOID:891 progressive myoclonus epilepsy ISO RGD:1317740 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11947542 PWP2 PWP2 small subunit processome component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11947542 PWP2 PWP2 small subunit processome component gene DOID:9263 homocystinuria ISO RGD:1317740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11947542 PWP2 PWP2 small subunit processome component gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11947567 RBMS2 RNA binding motif single stranded interacting protein 2 gene DOID:630 genetic disease ISO RGD:1312477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11947593 IQCG IQ motif containing G gene DOID:0111883 Diamond-Blackfan anemia 5 ISO RGD:1345008 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 PMID:16199547|PMID:17576681|PMID:18535205|PMID:22262766|PMID:22689679|PMID:25424902|PMID:25741868|PMID:25946618|PMID:28492532|PMID:32241839|PMID:9536098 11947593 IQCG IQ motif containing G gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1345008 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:18535205|PMID:25424902|PMID:25741868|PMID:25946618|PMID:28492532 11947593 IQCG IQ motif containing G gene DOID:630 genetic disease ISO RGD:1345008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11947622 UTRN utrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:10479 D RGD:9068941 20200609 RGD PMID:9288751|REF_RGD_ID:737706 11947622 UTRN utrophin gene DOID:2394 ovarian cancer ISO RGD:731341 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17031801|REF_RGD_ID:2300329 11947622 UTRN utrophin gene DOID:630 genetic disease ISO RGD:731341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11947721 SNRPC small nuclear ribonucleoprotein polypeptide C gene DOID:0050553 JMP syndrome ISO RGD:1314465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11947721 SNRPC small nuclear ribonucleoprotein polypeptide C gene DOID:3492 mixed connective tissue disease ISO RGD:1314465 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary PMID:10555891|REF_RGD_ID:10766447 11947721 SNRPC small nuclear ribonucleoprotein polypeptide C gene DOID:630 genetic disease ISO RGD:1314465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11947721 SNRPC small nuclear ribonucleoprotein polypeptide C gene DOID:65 connective tissue disease ISO RGD:1314465 D RGD:9068941 20200609 RGD PMID:2968364|REF_RGD_ID:10448928 11947721 SNRPC small nuclear ribonucleoprotein polypeptide C gene DOID:9074 systemic lupus erythematosus ISO RGD:1314465 D RGD:9068941 20200609 RGD PMID:8647956|REF_RGD_ID:10766446 11947731 LTO1 LTO1 maturation factor of ABCE1 gene DOID:1059 intellectual disability ISO RGD:1312190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability syndrome 11947731 LTO1 LTO1 maturation factor of ABCE1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1312190 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11947731 LTO1 LTO1 maturation factor of ABCE1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1312190 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11947746 HNRNPDL heterogeneous nuclear ribonucleoprotein D like gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1320569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 11947746 HNRNPDL heterogeneous nuclear ribonucleoprotein D like gene DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3 ISO RGD:1320569 D RGD:7240710 20180130 OMIM 11947746 HNRNPDL heterogeneous nuclear ribonucleoprotein D like gene DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3 ISO RGD:1320569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1G PMID:15367920|PMID:17576681|PMID:24647604|PMID:25741868|PMID:28492532|PMID:30604053|PMID:33131168|PMID:9536098 11947746 HNRNPDL heterogeneous nuclear ribonucleoprotein D like gene DOID:630 genetic disease ISO RGD:1320569 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11947746 HNRNPDL heterogeneous nuclear ribonucleoprotein D like gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1320569 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11947760 SLC16A8 solute carrier family 16 member 8 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:736227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11947760 SLC16A8 solute carrier family 16 member 8 gene DOID:0080600 COVID-19 ISO RGD:736227 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11947760 SLC16A8 solute carrier family 16 member 8 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:736227 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11947760 SLC16A8 solute carrier family 16 member 8 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:736227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11947760 SLC16A8 solute carrier family 16 member 8 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:736227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11947760 SLC16A8 solute carrier family 16 member 8 gene DOID:4448 macular degeneration ISO RGD:736227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26691988 11947760 SLC16A8 solute carrier family 16 member 8 gene DOID:630 genetic disease ISO RGD:736227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11947768 RPS8 ribosomal protein S8 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11947768 RPS8 ribosomal protein S8 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:731589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11947768 RPS8 ribosomal protein S8 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11947768 RPS8 ribosomal protein S8 gene DOID:14330 Parkinson's disease ISO RGD:731589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18353766 11947768 RPS8 ribosomal protein S8 gene DOID:630 genetic disease ISO RGD:731589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11947768 RPS8 ribosomal protein S8 gene DOID:9004657 Weight Gain ISO RGD:731589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11947768 RPS8 ribosomal protein S8 gene DOID:9008939 Breast Neoplasms ISO RGD:731589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 11947778 SORT1 sortilin 1 gene DOID:0080600 COVID-19 ISO RGD:731682 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11947778 SORT1 sortilin 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:731682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11947778 SORT1 sortilin 1 gene DOID:12849 autistic disorder ISO RGD:731682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11947778 SORT1 sortilin 1 gene DOID:1287 cardiovascular system disease ISO RGD:731682 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25805502 11947778 SORT1 sortilin 1 gene DOID:13580 cholestasis ISO RGD:731682 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28453831 11947778 SORT1 sortilin 1 gene DOID:3393 coronary artery disease ISO RGD:731682 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:21378990|PMID:34961328 11947778 SORT1 sortilin 1 gene DOID:409 liver disease ISO RGD:731682 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28453831 11947778 SORT1 sortilin 1 gene DOID:630 genetic disease ISO RGD:731682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11947801 SLC35A5 solute carrier family 35 member A5 gene DOID:0080600 COVID-19 ISO RGD:1344135 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11947801 SLC35A5 solute carrier family 35 member A5 gene DOID:630 genetic disease ISO RGD:1344135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11947801 SLC35A5 solute carrier family 35 member A5 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:1344135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 11947820 MYO1C myosin IC gene DOID:0060224 atrial fibrillation ISO RGD:737188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 11947820 MYO1C myosin IC gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:737188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 11947820 MYO1C myosin IC gene DOID:630 genetic disease ISO RGD:737188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11947820 MYO1C myosin IC gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11947862 RANBP3L RAN binding protein 3 like gene DOID:630 genetic disease ISO RGD:1602423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11947862 RANBP3L RAN binding protein 3 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11947882 FBXW8 F-box and WD repeat domain containing 8 gene DOID:11054 urinary bladder cancer ISO RGD:1314415 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 11947882 FBXW8 F-box and WD repeat domain containing 8 gene DOID:630 genetic disease ISO RGD:1314415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11947899 RASL11A RAS like family 11 member A gene DOID:289 endometriosis ISO RGD:1343885 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11947899 RASL11A RAS like family 11 member A gene DOID:630 genetic disease ISO RGD:1343885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11947899 RASL11A RAS like family 11 member A gene DOID:9008443 Colorectal Neoplasms ISO RGD:1343885 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30224643 11947907 DACT1 dishevelled binding antagonist of beta catenin 1 gene DOID:0050887 Townes-Brocks syndrome ISO RGD:1348421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11947907 DACT1 dishevelled binding antagonist of beta catenin 1 gene DOID:14686 Axenfeld-Rieger syndrome ISO RGD:1348421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rieger anomaly PMID:26893459 11947907 DACT1 dishevelled binding antagonist of beta catenin 1 gene DOID:630 genetic disease ISO RGD:1348421 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:36066768 11947907 DACT1 dishevelled binding antagonist of beta catenin 1 gene DOID:9004070 Townes-Brocks Syndrome 2 ISO RGD:1348421 D RGD:7240710 20190315 OMIM 11947907 DACT1 dishevelled binding antagonist of beta catenin 1 gene DOID:9004070 Townes-Brocks Syndrome 2 ISO RGD:1348421 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Townes-Brocks syndrome 2 PMID:25741868|PMID:28054444|PMID:28492532|PMID:36066768 11947907 DACT1 dishevelled binding antagonist of beta catenin 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1348421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 11947937 LOC100992218 thiamine transporter 2 gene DOID:0050659 biotin-responsive basal ganglia disease ISO RGD:1604331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Biotin-responsive basal ganglia disease 11947964 EPHA6 EPH receptor A6 gene DOID:0110125 Bardet-Biedl syndrome 3 ISO RGD:1605546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 3 PMID:15258860|PMID:19858128|PMID:20142850|PMID:22334370|PMID:27486776|PMID:28492532|PMID:31736247 11947964 EPHA6 EPH receptor A6 gene DOID:630 genetic disease ISO RGD:1605546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948004 VWA1 von Willebrand factor A domain containing 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1603968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11948004 VWA1 von Willebrand factor A domain containing 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603968 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11948004 VWA1 von Willebrand factor A domain containing 1 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1603968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11948004 VWA1 von Willebrand factor A domain containing 1 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1603968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11948004 VWA1 von Willebrand factor A domain containing 1 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1603968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11948004 VWA1 von Willebrand factor A domain containing 1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1603968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11948004 VWA1 von Willebrand factor A domain containing 1 gene DOID:0111934 immunodeficiency 38 ISO RGD:1603968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11948004 VWA1 von Willebrand factor A domain containing 1 gene DOID:0111935 immunodeficiency 16 ISO RGD:1603968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11948004 VWA1 von Willebrand factor A domain containing 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11948004 VWA1 von Willebrand factor A domain containing 1 gene DOID:440 neuromuscular disease ISO RGD:1603968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:33459760 11948004 VWA1 von Willebrand factor A domain containing 1 gene DOID:630 genetic disease ISO RGD:1603968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948004 VWA1 von Willebrand factor A domain containing 1 gene DOID:9000655 Hereditary Motor Neuropathy with Myopathic Features ISO RGD:1603968 D RGD:7240710 20210414 OMIM 11948004 VWA1 von Willebrand factor A domain containing 1 gene DOID:9000655 Hereditary Motor Neuropathy with Myopathic Features ISO RGD:1603968 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary motor, with myopathic features PMID:25741868|PMID:33459760 11948004 VWA1 von Willebrand factor A domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11948004 VWA1 von Willebrand factor A domain containing 1 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1603968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11948004 VWA1 von Willebrand factor A domain containing 1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1603968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11948011 FABP3 fatty acid binding protein 3 gene DOID:0080000 muscular disease ISO RGD:69087 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18308699 11948011 FABP3 fatty acid binding protein 3 gene DOID:10652 Alzheimer's disease ISO RGD:69087 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (human) PMID:15068254|REF_RGD_ID:1578460 11948011 FABP3 fatty acid binding protein 3 gene DOID:10763 hypertension susceptibility ISO RGD:69087 D RGD:9068941 20200609 RGD DNA:SNPs PMID:18437121|REF_RGD_ID:2307331 11948011 FABP3 fatty acid binding protein 3 gene DOID:14250 Down syndrome ISO RGD:69087 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (human) PMID:15068254|REF_RGD_ID:1578460 11948011 FABP3 fatty acid binding protein 3 gene DOID:5844 myocardial infarction ISO RGD:69087 D RGD:9068941 20200609 RGD PMID:8326460|REF_RGD_ID:1582401 11948011 FABP3 fatty acid binding protein 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69048 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:aorta PMID:7744030|REF_RGD_ID:2307330 11948011 FABP3 fatty acid binding protein 3 gene DOID:9005749 Necrosis ISO RGD:69087 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18308699 11948011 FABP3 fatty acid binding protein 3 gene DOID:9007692 Insulin Resistance severity ISO RGD:69088 D RGD:9068941 20200609 RGD PMID:16249436|REF_RGD_ID:1578459 11948011 FABP3 fatty acid binding protein 3 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:69087 D RGD:9068941 20200609 RGD DNA:deletion:3' utr:c.634+483delT (human) PMID:12872269|REF_RGD_ID:1578461 11948011 FABP3 fatty acid binding protein 3 gene DOID:9970 obesity ISO RGD:69087 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA:decreased expression:skeletal muscle PMID:17515913|REF_RGD_ID:2307328 11948023 PEX12 peroxisomal biogenesis factor 12 gene DOID:0050444 infantile Refsum disease ISO RGD:731687 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile Refsum's disease PMID:10527683|PMID:10562279|PMID:10837480|PMID:12032265|PMID:14571262|PMID:14630978|PMID:15184617|PMID:15241794|PMID:15542397|PMID:16199547|PMID:17576681|PMID:19105186|PMID:19127411|PMID:19877282|PMID:21031596|PMID:21465523|PMID:24627108|PMID:25287621|PMID:25741868|PMID:26094004|PMID:28492532|PMID:29389947|PMID:9090384|PMID:9536098|PMID:9632816|PMID:9792857 11948023 PEX12 peroxisomal biogenesis factor 12 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:731687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9090384 11948023 PEX12 peroxisomal biogenesis factor 12 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:731687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) PMID:28492532 11948023 PEX12 peroxisomal biogenesis factor 12 gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:731687 D RGD:7240710 20180130 OMIM 11948023 PEX12 peroxisomal biogenesis factor 12 gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:731687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:10527683|PMID:10562279|PMID:10837480|PMID:11370741|PMID:12032265|PMID:14571262|PMID:14630978|PMID:15184617|PMID:15241794|PMID:15542397|PMID:16199547|PMID:17534573|PMID:17576681|PMID:19105186|PMID:19127411|PMID:19877282|PMID:21031596|PMID:21465523|PMID:22471590|PMID:24033266|PMID:24627108|PMID:25287621|PMID:25326635|PMID:25741868|PMID:26094004|PMID:26643206|PMID:27124789|PMID:27763634|PMID:28492532|PMID:29389947|PMID:33123925|PMID:9090384|PMID:9354782|PMID:9536098|PMID:9632816|PMID:9792857 11948023 PEX12 peroxisomal biogenesis factor 12 gene DOID:0081241 peroxisome biogenesis disorder 3B ISO RGD:731687 D RGD:7240710 20180425 OMIM 11948023 PEX12 peroxisomal biogenesis factor 12 gene DOID:0081241 peroxisome biogenesis disorder 3B ISO RGD:731687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisomal biogenesis disorder 3b | ClinVar Annotator: match by term: Peroxisome biogenesis disorder type 3B PMID:10527683|PMID:10562279|PMID:10837480|PMID:11370741|PMID:12032265|PMID:14571262|PMID:14630978|PMID:15184617|PMID:15241794|PMID:15542397|PMID:16199547|PMID:17534573|PMID:17576681|PMID:19105186|PMID:19127411|PMID:19877282|PMID:21031596|PMID:2122101|PMID:21465523|PMID:22471590|PMID:24033266|PMID:24627108|PMID:25287621|PMID:25326635|PMID:25741868|PMID:26094004|PMID:26643206|PMID:27124789|PMID:27763634|PMID:28492532|PMID:29389947|PMID:9090384|PMID:9536098|PMID:9632816|PMID:9792857 11948023 PEX12 peroxisomal biogenesis factor 12 gene DOID:630 genetic disease ISO RGD:731687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11948023 PEX12 peroxisomal biogenesis factor 12 gene DOID:905 Zellweger syndrome ISO RGD:731687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder PMID:10527683|PMID:10837480|PMID:14571262|PMID:14630978|PMID:15184617|PMID:15542397|PMID:16199547|PMID:19105186|PMID:19127411|PMID:19877282|PMID:21031596|PMID:21465523|PMID:24627108|PMID:25287621|PMID:25741868|PMID:26094004|PMID:28492532|PMID:29389947|PMID:9090384|PMID:9632816|PMID:9792857 11948023 PEX12 peroxisomal biogenesis factor 12 gene DOID:905 Zellweger syndrome ISO RGD:731687 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:10527683|PMID:10837480|PMID:14571262|PMID:14630978|PMID:15184617|PMID:15542397|PMID:16199547|PMID:17576681|PMID:19105186|PMID:19127411|PMID:19877282|PMID:21031596|PMID:21465523|PMID:24627108|PMID:25287621|PMID:25741868|PMID:26094004|PMID:28492532|PMID:29389947|PMID:9090384|PMID:9536098|PMID:9632816|PMID:9792857 11948023 PEX12 peroxisomal biogenesis factor 12 gene DOID:905 Zellweger syndrome ISO RGD:731687 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum PMID:10527683|PMID:10562279|PMID:10837480|PMID:12032265|PMID:14571262|PMID:14630978|PMID:15184617|PMID:15241794|PMID:15542397|PMID:16199547|PMID:17576681|PMID:19105186|PMID:19127411|PMID:19877282|PMID:21031596|PMID:21465523|PMID:24627108|PMID:25287621|PMID:25741868|PMID:26094004|PMID:28492532|PMID:29389947|PMID:9090384|PMID:9536098|PMID:9632816|PMID:9792857 11948030 GRAMD4 GRAM domain containing 4 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1604385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11948030 GRAMD4 GRAM domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1604385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11948030 GRAMD4 GRAM domain containing 4 gene DOID:630 genetic disease ISO RGD:1604385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948054 GPR78 G protein-coupled receptor 78 gene DOID:630 genetic disease ISO RGD:1351563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948063 CTSD cathepsin D gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11948063 CTSD cathepsin D gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1351014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 11948063 CTSD cathepsin D gene DOID:0080600 COVID-19 ISO RGD:1351014 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11948063 CTSD cathepsin D gene DOID:0080773 delta beta-thalassemia ISO RGD:1351014 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11948063 CTSD cathepsin D gene DOID:0110725 neuronal ceroid lipofuscinosis 10 ISO RGD:1351014 D RGD:7240710 20180130 OMIM 11948063 CTSD cathepsin D gene DOID:0110725 neuronal ceroid lipofuscinosis 10 ISO RGD:1351014 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 10 PMID:10218883|PMID:16670177|PMID:16685649|PMID:24767253|PMID:25298308|PMID:25741868|PMID:26467025|PMID:27249223|PMID:28492532|PMID:29140481|PMID:33681191 11948063 CTSD cathepsin D gene DOID:0111969 immunodeficiency 39 ISO RGD:1351014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11948063 CTSD cathepsin D gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11948063 CTSD cathepsin D gene DOID:10652 Alzheimer's disease ISO RGD:1351014 D RGD:9068941 20200806 RGD PMID:11304834|REF_RGD_ID:1358532 11948063 CTSD cathepsin D gene DOID:10652 Alzheimer's disease ISO RGD:1351014 D RGD:9068941 20200806 RGD protein:decreased expression:lymphocyte: PMID:15907478|REF_RGD_ID:1358533 11948063 CTSD cathepsin D gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1351014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10218883|PMID:16199547|PMID:16670177|PMID:16685649|PMID:17576681|PMID:18762956|PMID:24767253|PMID:25298308|PMID:25741868|PMID:26059544|PMID:26467025|PMID:27249223|PMID:28492532|PMID:29140481|PMID:29373990|PMID:32421885|PMID:33681191|PMID:34331747|PMID:9536098 11948063 CTSD cathepsin D gene DOID:1612 breast cancer ISO RGD:1351014 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:12140763|REF_RGD_ID:1547890 11948063 CTSD cathepsin D gene DOID:1826 epilepsy ISO RGD:1351014 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11948063 CTSD cathepsin D gene DOID:1936 atherosclerosis ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:12213722|REF_RGD_ID:5687152 11948063 CTSD cathepsin D gene DOID:4450 renal cell carcinoma ISO RGD:1351014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 11948063 CTSD cathepsin D gene DOID:557 kidney disease ISO RGD:1351014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15213268 11948063 CTSD cathepsin D gene DOID:630 genetic disease ISO RGD:1351014 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10218883|PMID:16670177|PMID:17576681|PMID:18762956|PMID:24767253|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 11948063 CTSD cathepsin D gene DOID:684 hepatocellular carcinoma ISO RGD:1351014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11948063 CTSD cathepsin D gene DOID:7148 rheumatoid arthritis ISO RGD:1351014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 11948063 CTSD cathepsin D gene DOID:8398 osteoarthritis ISO RGD:1351014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11948063 CTSD cathepsin D gene DOID:9000965 Neoplasm Metastasis ISO RGD:1351014 D RGD:9068941 20200609 RGD protein:increased expression:oral cavity, oropharynx, hypopharynx (human) PMID:10562684|REF_RGD_ID:1547892 11948063 CTSD cathepsin D gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351014 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:28468961 11948063 CTSD cathepsin D gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11948063 CTSD cathepsin D gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1351014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11948063 CTSD cathepsin D gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1351014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 11948063 CTSD cathepsin D gene DOID:9004657 Weight Gain ISO RGD:1351014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11948078 KDELR3 KDEL endoplasmic reticulum protein retention receptor 3 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1323044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11948078 KDELR3 KDEL endoplasmic reticulum protein retention receptor 3 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1323044 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11948078 KDELR3 KDEL endoplasmic reticulum protein retention receptor 3 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1323044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11948078 KDELR3 KDEL endoplasmic reticulum protein retention receptor 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1323044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11948078 KDELR3 KDEL endoplasmic reticulum protein retention receptor 3 gene DOID:630 genetic disease ISO RGD:1323044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948090 SPAG17 sperm associated antigen 17 gene DOID:0080804 cranioectodermal dysplasia 2 ISO RGD:1601710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 11948090 SPAG17 sperm associated antigen 17 gene DOID:0112337 spermatogenic failure 55 ISO RGD:1601710 D RGD:7240710 20210707 OMIM 11948090 SPAG17 sperm associated antigen 17 gene DOID:0112337 spermatogenic failure 55 ISO RGD:1601710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 55 PMID:28548327 11948090 SPAG17 sperm associated antigen 17 gene DOID:630 genetic disease ISO RGD:1601710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948090 SPAG17 sperm associated antigen 17 gene DOID:9007303 Idiopathic Short Stature, Autosomal ISO RGD:1601710 D RGD:9068941 20200609 RGD DNA:snp:enhancer:C>G (rs17038182) (human) PMID:19893584|REF_RGD_ID:11535959 11948142 UBP1 upstream binding protein 1 gene DOID:630 genetic disease ISO RGD:1345367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948173 PALD1 phosphatase domain containing paladin 1 gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ISO RGD:1346451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 PMID:28492532 11948173 PALD1 phosphatase domain containing paladin 1 gene DOID:630 genetic disease ISO RGD:1346451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948173 PALD1 phosphatase domain containing paladin 1 gene DOID:9008288 Visceral Heterotaxy 5, Autosomal ISO RGD:1346451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal PMID:28492532 11948205 UPK3A uroplakin 3A gene DOID:0080206 CAKUT1 ISO RGD:1321651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1 PMID:15888565|PMID:16731295 11948205 UPK3A uroplakin 3A gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1321651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11948205 UPK3A uroplakin 3A gene DOID:1059 intellectual disability ISO RGD:1321651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11948205 UPK3A uroplakin 3A gene DOID:630 genetic disease ISO RGD:1321651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948205 UPK3A uroplakin 3A gene DOID:9003763 Renal Hypodysplasia/Aplasia 1 ISO RGD:1321651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 1 PMID:15888565|PMID:27657687|PMID:28492532 11948205 UPK3A uroplakin 3A gene DOID:9620 vesicoureteral reflux ISO RGD:1321652 D RGD:9068941 20220825 MouseDO OMIM:193000 | OMIM:314550 | OMIM:610878 | OMIM:613674 | OMIM:614317 | OMIM:614318 | OMIM:614319 | OMIM:614674 | OMIM:615390 | OMIM:615963 11948219 ATP6V0B ATPase H+ transporting V0 subunit b gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1317997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:23252400|PMID:28492532 11948219 ATP6V0B ATPase H+ transporting V0 subunit b gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1317997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11948219 ATP6V0B ATPase H+ transporting V0 subunit b gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1317997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:23252400|PMID:28492532 11948219 ATP6V0B ATPase H+ transporting V0 subunit b gene DOID:630 genetic disease ISO RGD:1317997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948236 FADS1 fatty acid desaturase 1 gene DOID:0080600 COVID-19 ISO RGD:1344024 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11948236 FADS1 fatty acid desaturase 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1344024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11948236 FADS1 fatty acid desaturase 1 gene DOID:1059 intellectual disability ISO RGD:1344024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11948236 FADS1 fatty acid desaturase 1 gene DOID:10763 hypertension ISO RGD:621678 D RGD:9068941 20200609 RGD PMID:12144877|REF_RGD_ID:1625415 11948236 FADS1 fatty acid desaturase 1 gene DOID:630 genetic disease ISO RGD:1344024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948236 FADS1 fatty acid desaturase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1344024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11948236 FADS1 fatty acid desaturase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621678 D RGD:9068941 20200609 RGD PMID:16099631|REF_RGD_ID:1625413 11948236 FADS1 fatty acid desaturase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11948236 FADS1 fatty acid desaturase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1344024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24836286 11948236 FADS1 fatty acid desaturase 1 gene DOID:9970 obesity ISO RGD:621678 D RGD:9068941 20200609 RGD protein:decreased expression:microsomes, liver PMID:8446010|REF_RGD_ID:1625421 11948252 CDK2AP1 cyclin dependent kinase 2 associated protein 1 gene DOID:630 genetic disease ISO RGD:1318567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948275 LOC100982932 zinc finger and SCAN domain-containing protein 5A gene DOID:630 genetic disease ISO RGD:1347881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948299 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:0050765 neuroacanthocytosis ISO RGD:1351512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11761473|PMID:8619554 11948299 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11948299 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:1351512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked PMID:20729109|PMID:22929960|PMID:27701760|PMID:28492532|PMID:8634410|PMID:9585602 11948299 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1351512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 11948299 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1351512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase 11948299 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:0112107 McLeod syndrome ISO RGD:1351512 D RGD:7240710 20180130 OMIM 11948299 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:0112107 McLeod syndrome ISO RGD:1351512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome PMID:10426139|PMID:11261514|PMID:11703337|PMID:11761473|PMID:11961232|PMID:13860532|PMID:17133513|PMID:17302777|PMID:25741868|PMID:28492532|PMID:30800707|PMID:8004674|PMID:8619554 11948299 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:12849 autistic disorder ISO RGD:1351512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11948299 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:150 disease of mental health ISO RGD:1351512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11261514 11948299 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:440 neuromuscular disease ISO RGD:1351512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8004674|PMID:8619554 11948299 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:480 movement disease ISO RGD:1351512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11261514 11948299 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:574 peripheral nervous system disease ISO RGD:1351512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11761473 11948299 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:630 genetic disease ISO RGD:1351512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11948299 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:74 hematopoietic system disease ISO RGD:1351512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8004674|PMID:8619554 11948299 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:74 hematopoietic system disease ISO RGD:1351512 D RGD:9068941 20200609 RGD McLeod syndrome, OMIM:314850 PMID:8004674|REF_RGD_ID:1354522 11948299 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11948299 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1351512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:10946359|PMID:11793468|PMID:16786505|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 11948299 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11948306 SLC39A9 solute carrier family 39 member 9 gene DOID:630 genetic disease ISO RGD:1322587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948330 RPL17 ribosomal protein L17 gene DOID:1059 intellectual disability ISO RGD:1347180 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11948330 RPL17 ribosomal protein L17 gene DOID:630 genetic disease ISO RGD:1347180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948330 RPL17 ribosomal protein L17 gene DOID:9007102 Myocardial Ischemia ISO RGD:1347180 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11948371 KIF1B kinesin family member 1B gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:732615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I 11948371 KIF1B kinesin family member 1B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732615 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:17576681|PMID:18334619|PMID:24033266|PMID:24469107|PMID:25025039|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29590070|PMID:30126838|PMID:32376792|PMID:9536098 11948371 KIF1B kinesin family member 1B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732615 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:17576681|PMID:18334619|PMID:24033266|PMID:24469107|PMID:24694336|PMID:25025039|PMID:25741868|PMID:26257172|PMID:26392352|PMID:28166811|PMID:28492532|PMID:29590070|PMID:30126838|PMID:30487145|PMID:31130284|PMID:32376792|PMID:32419263|PMID:33362715|PMID:9536098 11948371 KIF1B kinesin family member 1B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:16199547|PMID:17576681|PMID:18334619|PMID:24033266|PMID:24469107|PMID:24694336|PMID:25025039|PMID:25640679|PMID:25741868|PMID:26257172|PMID:26392352|PMID:28492532|PMID:29590070|PMID:30126838|PMID:30487145|PMID:31130284|PMID:32376792|PMID:32419263|PMID:33362715|PMID:34169998|PMID:9536098 11948371 KIF1B kinesin family member 1B gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:732615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 11948371 KIF1B kinesin family member 1B gene DOID:0050771 pheochromocytoma ISO RGD:732615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:18334619|PMID:18726616|PMID:24033266|PMID:24469107|PMID:25741868|PMID:26392352|PMID:28492532|PMID:28637693|PMID:32376792 11948371 KIF1B kinesin family member 1B gene DOID:0050890 synucleinopathy ISO RGD:621520 D RGD:9068941 20200609 RGD protein:decreased expression:striatum, membrane (rat) PMID:19295143|REF_RGD_ID:11049591 11948371 KIF1B kinesin family member 1B gene DOID:0050892 adrenal gland pheochromocytoma ISO RGD:732615 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Adrenal gland pheochromocytoma PMID:25741868 11948371 KIF1B kinesin family member 1B gene DOID:0060249 scoliosis ISO RGD:732615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868 11948371 KIF1B kinesin family member 1B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:732615 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11948371 KIF1B kinesin family member 1B gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:732615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Guérin-Stern syndrome PMID:25741868 11948371 KIF1B kinesin family member 1B gene DOID:0110154 Charcot-Marie-Tooth disease type 2A1 ISO RGD:732615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A1 PMID:11389829|PMID:17576681|PMID:18334619|PMID:24033266|PMID:24469107|PMID:24694336|PMID:25025039|PMID:25741868|PMID:28492532|PMID:29590070|PMID:30126838|PMID:32376792|PMID:9409358|PMID:9536098 11948371 KIF1B kinesin family member 1B gene DOID:0110154 Charcot-Marie-Tooth disease type 2A1 susceptibility ISO RGD:732615 D RGD:7240710 20230505 OMIM 11948371 KIF1B kinesin family member 1B gene DOID:0111194 autosomal dominant adult-onset proximal spinal muscular atrophy ISO RGD:732615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adult-onset proximal spinal muscular atrophy, autosomal dominant PMID:25741868|PMID:28492532 11948371 KIF1B kinesin family member 1B gene DOID:0111936 immunodeficiency 14 ISO RGD:732615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 11948371 KIF1B kinesin family member 1B gene DOID:1059 intellectual disability ISO RGD:732615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11948371 KIF1B kinesin family member 1B gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:17576681|PMID:18334619|PMID:24033266|PMID:24469107|PMID:24694336|PMID:25025039|PMID:25741868|PMID:28492532|PMID:29590070|PMID:30126838|PMID:32376792|PMID:9536098 11948371 KIF1B kinesin family member 1B gene DOID:12306 vitiligo ISO RGD:732615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Vitiligo PMID:25741868|PMID:28492532 11948371 KIF1B kinesin family member 1B gene DOID:1612 breast cancer ISO RGD:732615 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:18334619|PMID:24469107|PMID:24694336|PMID:25741868|PMID:28492532 11948371 KIF1B kinesin family member 1B gene DOID:2152 ovary epithelial cancer susceptibility ISO RGD:732615 D RGD:9068941 20200609 RGD DNA:snp:intron:c.2537+518A>G (rs17401966) (human) PMID:25854172|REF_RGD_ID:12738465 11948371 KIF1B kinesin family member 1B gene DOID:2377 multiple sclerosis ISO RGD:732615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18997785 11948371 KIF1B kinesin family member 1B gene DOID:2377 multiple sclerosis no_association ISO RGD:732615 D RGD:9068941 20200609 RGD DNA:snp:intron:c.1590+932T>C (rs10492972) (human) PMID:20502484|REF_RGD_ID:12738463 11948371 KIF1B kinesin family member 1B gene DOID:2377 multiple sclerosis susceptibility ISO RGD:732615 D RGD:9068941 20200609 RGD DNA:snp:intron:c.1590+932T>C (rs10492972) (human) PMID:18997785|REF_RGD_ID:12738462 11948371 KIF1B kinesin family member 1B gene DOID:2394 ovarian cancer ISO RGD:732615 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 11948371 KIF1B kinesin family member 1B gene DOID:332 amyotrophic lateral sclerosis ISO RGD:621520 D RGD:9068941 20200609 RGD mRNA:decreased expression:precentral gyrus (human) PMID:17418584|REF_RGD_ID:12738468 11948371 KIF1B kinesin family member 1B gene DOID:332 amyotrophic lateral sclerosis onset ISO RGD:1317949 D RGD:9068941 20200609 RGD mRNA:increased expression, decreased expression:spinal cord, sciatic nerve (mouse) PMID:24904291|REF_RGD_ID:12738469 11948371 KIF1B kinesin family member 1B gene DOID:630 genetic disease ISO RGD:732615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948371 KIF1B kinesin family member 1B gene DOID:684 hepatocellular carcinoma severity ISO RGD:732615 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver (human) PMID:26217094|REF_RGD_ID:11052488 11948371 KIF1B kinesin family member 1B gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732615 D RGD:9068941 20200609 RGD DNA:snp:intron:c.2537+518A>G (rs17401966) (human) PMID:27122668|REF_RGD_ID:12738461 11948371 KIF1B kinesin family member 1B gene DOID:769 neuroblastoma ISO RGD:732615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 1 PMID:18334619|PMID:18726616|PMID:24033266|PMID:24469107|PMID:24694336|PMID:25741868|PMID:28492532|PMID:28637693|PMID:30126838|PMID:30487145|PMID:32376792|PMID:33362715 11948371 KIF1B kinesin family member 1B gene DOID:769 neuroblastoma susceptibility ISO RGD:732615 D RGD:7240710 20190502 OMIM 11948371 KIF1B kinesin family member 1B gene DOID:9005077 Joint Instability ISO RGD:732615 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Joint laxity PMID:25741868|PMID:26392352|PMID:28492532 11948371 KIF1B kinesin family member 1B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:18334619|PMID:18726616|PMID:24033266|PMID:24469107|PMID:24694336|PMID:25025039|PMID:25741868|PMID:26257172|PMID:26392352|PMID:28492532|PMID:28637693|PMID:29590070|PMID:30126838|PMID:30487145|PMID:31130284|PMID:32376792|PMID:32419263|PMID:32565791|PMID:33362715|PMID:34169998|PMID:9536098 11948371 KIF1B kinesin family member 1B gene DOID:9008086 Developmental Disabilities ISO RGD:732615 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay 11948445 AHCTF1 AT-hook containing transcription factor 1 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1603679 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11948445 AHCTF1 AT-hook containing transcription factor 1 gene DOID:1059 intellectual disability ISO RGD:1603679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities 11948445 AHCTF1 AT-hook containing transcription factor 1 gene DOID:13938 amenorrhea ISO RGD:1603679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11948445 AHCTF1 AT-hook containing transcription factor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1603679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11948445 AHCTF1 AT-hook containing transcription factor 1 gene DOID:540 strabismus ISO RGD:1603679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Strabismus 11948445 AHCTF1 AT-hook containing transcription factor 1 gene DOID:630 genetic disease ISO RGD:1603679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948445 AHCTF1 AT-hook containing transcription factor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11948487 EIF4G2 eukaryotic translation initiation factor 4 gamma 2 gene DOID:10763 hypertension ISO RGD:1305294 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:12708758|REF_RGD_ID:10755511 11948487 EIF4G2 eukaryotic translation initiation factor 4 gamma 2 gene DOID:1591 renovascular hypertension ISO RGD:1305294 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:12708758|REF_RGD_ID:10755511 11948487 EIF4G2 eukaryotic translation initiation factor 4 gamma 2 gene DOID:630 genetic disease ISO RGD:1313238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948487 EIF4G2 eukaryotic translation initiation factor 4 gamma 2 gene DOID:916 liver benign neoplasm ISO RGD:1313239 D RGD:9068941 20200609 RGD PMID:9633945|REF_RGD_ID:10755510 11948517 ZNF543 zinc finger protein 543 gene DOID:630 genetic disease ISO RGD:1603915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948525 RHOD ras homolog family member D gene DOID:1059 intellectual disability ISO RGD:1322195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11948525 RHOD ras homolog family member D gene DOID:630 genetic disease ISO RGD:1322195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948525 RHOD ras homolog family member D gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1322195 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11948525 RHOD ras homolog family member D gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1322195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11948535 APOA5 apolipoprotein A5 gene DOID:0111123 nephronophthisis 15 ISO RGD:736192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 11948535 APOA5 apolipoprotein A5 gene DOID:0111421 familial apolipoprotein A5 deficiency ISO RGD:736192 D RGD:7240710 20230517 OMIM 11948535 APOA5 apolipoprotein A5 gene DOID:1059 intellectual disability ISO RGD:736192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11948535 APOA5 apolipoprotein A5 gene DOID:1171 hyperlipoproteinemia type V ISO RGD:736192 D RGD:7240710 20230517 OMIM 11948535 APOA5 apolipoprotein A5 gene DOID:1171 hyperlipoproteinemia type V ISO RGD:736192 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial type 5 hyperlipoproteinemia PMID:12417524|PMID:12417525|PMID:16200213|PMID:16806135|PMID:18324930|PMID:19447388|PMID:21993410|PMID:23151256|PMID:23307945|PMID:24591733|PMID:24793350|PMID:25487149|PMID:25741868|PMID:26046366|PMID:27108409|PMID:27578109|PMID:27678447|PMID:28492532|PMID:28951076|PMID:29954705|PMID:31619059|PMID:31980526|PMID:32041611|PMID:33111339|PMID:33462484 11948535 APOA5 apolipoprotein A5 gene DOID:1172 hyperlipoproteinemia type IV ISO RGD:736192 D RGD:7240710 20230517 OMIM 11948535 APOA5 apolipoprotein A5 gene DOID:14118 familial lipoprotein lipase deficiency ISO RGD:736192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia, type I PMID:25741868 11948535 APOA5 apolipoprotein A5 gene DOID:1459 hypothyroidism ISO RGD:70903 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:15941710|REF_RGD_ID:1601661 11948535 APOA5 apolipoprotein A5 gene DOID:3145 hyperlipoproteinemia type III ISO RGD:736192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16143024 11948535 APOA5 apolipoprotein A5 gene DOID:3393 coronary artery disease ISO RGD:736192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097064 11948535 APOA5 apolipoprotein A5 gene DOID:3393 coronary artery disease ISO RGD:736192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-1131T>C (human) PMID:15177130|REF_RGD_ID:2313322 11948535 APOA5 apolipoprotein A5 gene DOID:3393 coronary artery disease no_association ISO RGD:736192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-1131T>C, c.56C>G (human) PMID:15306190|REF_RGD_ID:1578412 11948535 APOA5 apolipoprotein A5 gene DOID:3526 cerebral infarction ISO RGD:736192 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :-1131T>C (human) PMID:19107359|REF_RGD_ID:2313314 11948535 APOA5 apolipoprotein A5 gene DOID:630 genetic disease ISO RGD:736192 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16806135|PMID:28492532|PMID:30420299 11948535 APOA5 apolipoprotein A5 gene DOID:9000810 HYPERTRIGLYCERIDEMIA 1 ISO RGD:736192 D RGD:7240710 20230517 OMIM 11948535 APOA5 apolipoprotein A5 gene DOID:9000810 HYPERTRIGLYCERIDEMIA 1 ISO RGD:736192 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia, familial PMID:11588264|PMID:12417524|PMID:12417525|PMID:12915450|PMID:18324930|PMID:19447388|PMID:23151256|PMID:23307945|PMID:24387992|PMID:24591733|PMID:24793350|PMID:25487149|PMID:25741868|PMID:26046366|PMID:27108409|PMID:28492532|PMID:29954705|PMID:31980526|PMID:32041611|PMID:33462484 11948535 APOA5 apolipoprotein A5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:736192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11948535 APOA5 apolipoprotein A5 gene DOID:9004581 Pediatric Obesity ISO RGD:736192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25137265 11948535 APOA5 apolipoprotein A5 gene DOID:9006599 Hypertriglyceridemia ISO RGD:736192 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia PMID:18324930|PMID:19447388|PMID:23151256|PMID:23307945|PMID:24591733|PMID:24793350|PMID:25487149|PMID:25741868|PMID:27108409|PMID:28492532|PMID:32041611 11948535 APOA5 apolipoprotein A5 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:736192 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.S19W (human) PMID:18789138|REF_RGD_ID:2313315 11948535 APOA5 apolipoprotein A5 gene DOID:9007571 Hyperlipoproteinemias ISO RGD:736192 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :-1131T>C, p.S19W (human) PMID:18468520|REF_RGD_ID:2313317 11948535 APOA5 apolipoprotein A5 gene DOID:9007661 Dwarfism ISO RGD:736192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11948535 APOA5 apolipoprotein A5 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736192 D RGD:9068941 20200609 RGD PMID:16039297|REF_RGD_ID:2313321 11948535 APOA5 apolipoprotein A5 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736192 D RGD:9068941 20200609 RGD DNA:polymorphism: :-1131T>C (human) PMID:17548321|REF_RGD_ID:2313318 11948535 APOA5 apolipoprotein A5 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:736192 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.553G>T (human) PMID:17087641|REF_RGD_ID:2313319 11948548 PI4KB phosphatidylinositol 4-kinase beta gene DOID:0080422 Dravet syndrome ISO RGD:732673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 11948548 PI4KB phosphatidylinositol 4-kinase beta gene DOID:0080599 Coronavirus infectious disease ISO RGD:732673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22253445 11948548 PI4KB phosphatidylinositol 4-kinase beta gene DOID:0111940 immunodeficiency 42 ISO RGD:732673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11948548 PI4KB phosphatidylinositol 4-kinase beta gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11948548 PI4KB phosphatidylinositol 4-kinase beta gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11948548 PI4KB phosphatidylinositol 4-kinase beta gene DOID:1540 parathyroid carcinoma ISO RGD:732673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11948548 PI4KB phosphatidylinositol 4-kinase beta gene DOID:2945 severe acute respiratory syndrome ISO RGD:732673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22253445 11948548 PI4KB phosphatidylinositol 4-kinase beta gene DOID:5812 MHC class II deficiency ISO RGD:732673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11948548 PI4KB phosphatidylinositol 4-kinase beta gene DOID:630 genetic disease ISO RGD:732673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948548 PI4KB phosphatidylinositol 4-kinase beta gene DOID:9001761 Autosomal Dominant Nonsyndromic Deafness 87 ISO RGD:732673 D RGD:7240710 20230505 OMIM 11948548 PI4KB phosphatidylinositol 4-kinase beta gene DOID:9001761 Autosomal Dominant Nonsyndromic Deafness 87 ISO RGD:732673 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 87 PMID:33358777 11948548 PI4KB phosphatidylinositol 4-kinase beta gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11948588 BRPF1 bromodomain and PHD finger containing 1 gene DOID:0050888 syndromic intellectual disability ISO RGD:1316706 D RGD:9068941 20220825 MouseDO OMIM:300486 | OMIM:300860 | OMIM:309583 11948588 BRPF1 bromodomain and PHD finger containing 1 gene DOID:1059 intellectual disability ISO RGD:1316705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11948588 BRPF1 bromodomain and PHD finger containing 1 gene DOID:12849 autistic disorder ISO RGD:1316705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior 11948588 BRPF1 bromodomain and PHD finger containing 1 gene DOID:1826 epilepsy ISO RGD:1316705 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11948588 BRPF1 bromodomain and PHD finger containing 1 gene DOID:2843 long QT syndrome ISO RGD:1316705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11948588 BRPF1 bromodomain and PHD finger containing 1 gene DOID:630 genetic disease ISO RGD:1316705 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25954003|PMID:27618451|PMID:27939639|PMID:27939640|PMID:28490743|PMID:28492532 11948588 BRPF1 bromodomain and PHD finger containing 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11948588 BRPF1 bromodomain and PHD finger containing 1 gene DOID:9002789 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE ISO RGD:1316705 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE PMID:25741868 11948588 BRPF1 bromodomain and PHD finger containing 1 gene DOID:9002914 Familial Sudden Death ISO RGD:1316705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sudden unexplained death in childhood PMID:25741868|PMID:32652122 11948588 BRPF1 bromodomain and PHD finger containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11948588 BRPF1 bromodomain and PHD finger containing 1 gene DOID:9005687 Autosomal Dominant Intellectual Developmental Disorder 64 ISO RGD:1316705 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 64 PMID:25741868 11948588 BRPF1 bromodomain and PHD finger containing 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1316705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:32652122 11948588 BRPF1 bromodomain and PHD finger containing 1 gene DOID:9008582 Developmental Disease ISO RGD:1316705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11948588 BRPF1 bromodomain and PHD finger containing 1 gene DOID:9008892 Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis ISO RGD:1316705 D RGD:7240710 20190315 OMIM 11948588 BRPF1 bromodomain and PHD finger containing 1 gene DOID:9008892 Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis ISO RGD:1316705 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis PMID:25741868|PMID:27939639|PMID:27939640|PMID:28492532|PMID:32010779|PMID:32652122 11948588 BRPF1 bromodomain and PHD finger containing 1 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1316705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 11948622 TBC1D1 TBC1 domain family member 1 gene DOID:0080205 CAKUT ISO RGD:1349688 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Non-syndromic renal or urinary tract malformation PMID:25741868 11948622 TBC1D1 TBC1 domain family member 1 gene DOID:630 genetic disease ISO RGD:1349688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948622 TBC1D1 TBC1 domain family member 1 gene DOID:9970 obesity ISO RGD:1349688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16893906|PMID:18325908|PMID:18931681 11948666 CFAP68 cilia and flagella associated protein 68 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1345294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 11948666 CFAP68 cilia and flagella associated protein 68 gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:1345294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:25966638|PMID:28492532 11948666 CFAP68 cilia and flagella associated protein 68 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1345294 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 11948666 CFAP68 cilia and flagella associated protein 68 gene DOID:1059 intellectual disability ISO RGD:1345294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11948666 CFAP68 cilia and flagella associated protein 68 gene DOID:12704 ataxia telangiectasia ISO RGD:1345294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11948666 CFAP68 cilia and flagella associated protein 68 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11948666 CFAP68 cilia and flagella associated protein 68 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1345294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 11948715 SUSD5 sushi domain containing 5 gene DOID:630 genetic disease ISO RGD:1607061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948725 SSRP1 structure specific recognition protein 1 gene DOID:1059 intellectual disability ISO RGD:734366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11948725 SSRP1 structure specific recognition protein 1 gene DOID:630 genetic disease ISO RGD:734366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948752 CORO2B coronin 2B gene DOID:0080600 COVID-19 ISO RGD:1352370 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11948752 CORO2B coronin 2B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1352370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11948752 CORO2B coronin 2B gene DOID:2717 Bloom syndrome ISO RGD:1352370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11948752 CORO2B coronin 2B gene DOID:630 genetic disease ISO RGD:1352370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948752 CORO2B coronin 2B gene DOID:9256 colorectal cancer ISO RGD:1352370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11948770 SOX2 SRY-box transcription factor 2 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:1344695 D RGD:9068941 20200609 RGD PMID:21689966|REF_RGD_ID:8661665 11948770 SOX2 SRY-box transcription factor 2 gene DOID:0060857 septooptic dysplasia ISO RGD:1344695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence PMID:16283891|PMID:16892407|PMID:16932809|PMID:18285410|PMID:18831064|PMID:24804704|PMID:25741868|PMID:26250054|PMID:27206652|PMID:28492532|PMID:35885948 11948770 SOX2 SRY-box transcription factor 2 gene DOID:0111546 Currarino syndrome ISO RGD:1344695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11948770 SOX2 SRY-box transcription factor 2 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1344695 D RGD:7240710 20180130 OMIM 11948770 SOX2 SRY-box transcription factor 2 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1344695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia | ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:12002146|PMID:12612584|PMID:15346919|PMID:15389708|PMID:15812812|PMID:16145681|PMID:16283891|PMID:16470798|PMID:16543359|PMID:16712695|PMID:16892407|PMID:16932809|PMID:17219395|PMID:17522144|PMID:18285410|PMID:18385377|PMID:18831064|PMID:19254784|PMID:19921648|PMID:20803647|PMID:21326281|PMID:22171155|PMID:22421044|PMID:23701296|PMID:24498598|PMID:24804704|PMID:25542770|PMID:25741868|PMID:26250054|PMID:26938784|PMID:27206652|PMID:27427475|PMID:28121235|PMID:28492532|PMID:30450772|PMID:32870266|PMID:33914258|PMID:35885948 11948770 SOX2 SRY-box transcription factor 2 gene DOID:10629 microphthalmia ISO RGD:1344695 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Microphthalmia PMID:25741868 11948770 SOX2 SRY-box transcription factor 2 gene DOID:10811 nasal cavity cancer ISO RGD:1344695 D RGD:9068941 20200609 RGD DNA:amplification PMID:23544055|REF_RGD_ID:8661654 11948770 SOX2 SRY-box transcription factor 2 gene DOID:11054 urinary bladder cancer ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29396848 11948770 SOX2 SRY-box transcription factor 2 gene DOID:1115 sarcoma ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26343384 11948770 SOX2 SRY-box transcription factor 2 gene DOID:12270 coloboma ISO RGD:1344695 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chorioretinal coloboma PMID:25741868 11948770 SOX2 SRY-box transcription factor 2 gene DOID:12271 aniridia ISO RGD:1344695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 11948770 SOX2 SRY-box transcription factor 2 gene DOID:13938 amenorrhea ISO RGD:1344695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:28492532|PMID:32870266 11948770 SOX2 SRY-box transcription factor 2 gene DOID:1612 breast cancer disease_progression ISO RGD:1344695 D RGD:9068941 20200609 RGD PMID:21822303|PMID:22832207|REF_RGD_ID:8661657|REF_RGD_ID:8661663 11948770 SOX2 SRY-box transcription factor 2 gene DOID:1612 breast cancer treatment ISO RGD:1344695 D RGD:9068941 20200609 RGD PMID:22561374|REF_RGD_ID:8661656 11948770 SOX2 SRY-box transcription factor 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19801978 11948770 SOX2 SRY-box transcription factor 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1344695 D RGD:9068941 20200609 RGD protein:increased expression:mammalian vulva, epithelium PMID:23518916|REF_RGD_ID:8661666 11948770 SOX2 SRY-box transcription factor 2 gene DOID:1909 melanoma disease_progression ISO RGD:1344695 D RGD:9068941 20200609 RGD PMID:21410764|REF_RGD_ID:8661664 11948770 SOX2 SRY-box transcription factor 2 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1344695 D RGD:9068941 20200609 RGD PMID:22899292|REF_RGD_ID:8661672 11948770 SOX2 SRY-box transcription factor 2 gene DOID:3347 osteosarcoma ISO RGD:1344695 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34508303 11948770 SOX2 SRY-box transcription factor 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19801978 11948770 SOX2 SRY-box transcription factor 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25184679 11948770 SOX2 SRY-box transcription factor 2 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1344695 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 11948770 SOX2 SRY-box transcription factor 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 11948770 SOX2 SRY-box transcription factor 2 gene DOID:6000 congestive heart failure ISO RGD:1565646 D RGD:9068941 20230202 RGD PMID:34321385|REF_RGD_ID:155882552 11948770 SOX2 SRY-box transcription factor 2 gene DOID:630 genetic disease ISO RGD:1344695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12002146|PMID:12923055|PMID:16582099|PMID:16932809|PMID:17219395|PMID:22421044|PMID:24804704|PMID:28492532 11948770 SOX2 SRY-box transcription factor 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1558014 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord PMID:23169458|REF_RGD_ID:8661675 11948770 SOX2 SRY-box transcription factor 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1565646 D RGD:9068941 20200609 RGD PMID:23169458|REF_RGD_ID:8661675 11948770 SOX2 SRY-box transcription factor 2 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1344695 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:24382260|REF_RGD_ID:8661670 11948770 SOX2 SRY-box transcription factor 2 gene DOID:9002049 Anophthalmia ISO RGD:1344695 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Anophthalmia PMID:25741868 11948770 SOX2 SRY-box transcription factor 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 11948770 SOX2 SRY-box transcription factor 2 gene DOID:9003623 Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System ISO RGD:1344695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Optic nerve hypoplasia and abnormalities of the central nervous system PMID:16932809|PMID:22421044|PMID:28492532 11948770 SOX2 SRY-box transcription factor 2 gene DOID:9004866 Ataxia ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29732603 11948770 SOX2 SRY-box transcription factor 2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 11948770 SOX2 SRY-box transcription factor 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19801978 11948770 SOX2 SRY-box transcription factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1565646 D RGD:9068941 20200609 RGD PMID:23828673|REF_RGD_ID:8661677 11948770 SOX2 SRY-box transcription factor 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1565646 D RGD:9068941 20230202 RGD PMID:34321385|REF_RGD_ID:155882552 11948770 SOX2 SRY-box transcription factor 2 gene DOID:9007502 Brain Neoplasms ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 11948770 SOX2 SRY-box transcription factor 2 gene DOID:9007920 Thoracic Neoplasms ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26343384 11948770 SOX2 SRY-box transcription factor 2 gene DOID:9008296 Eye Abnormalities ISO RGD:1344695 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.D123G (human) PMID:19471311|REF_RGD_ID:8661661 11948770 SOX2 SRY-box transcription factor 2 gene DOID:9008296 Eye Abnormalities ISO RGD:1344695 D RGD:9068941 20200609 RGD DNA:mutations: :multiple PMID:19921648|REF_RGD_ID:8661660 11948770 SOX2 SRY-box transcription factor 2 gene DOID:9008582 Developmental Disease ISO RGD:1344695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11948775 IPPK inositol-pentakisphosphate 2-kinase gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1322638 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 11948775 IPPK inositol-pentakisphosphate 2-kinase gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1322638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 11948775 IPPK inositol-pentakisphosphate 2-kinase gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1322638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 11948775 IPPK inositol-pentakisphosphate 2-kinase gene DOID:630 genetic disease ISO RGD:1322638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948797 DPY19L4 dpy-19 like 4 gene DOID:630 genetic disease ISO RGD:1606660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948828 GNG7 G protein subunit gamma 7 gene DOID:630 genetic disease ISO RGD:1348974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948828 GNG7 G protein subunit gamma 7 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1348974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18219292 11948828 GNG7 G protein subunit gamma 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11948847 RPL11 ribosomal protein L11 gene DOID:0060058 lymphoma susceptibility ISO RGD:1318595 D RGD:9068941 20200609 RGD PMID:26489471|REF_RGD_ID:11535971 11948847 RPL11 ribosomal protein L11 gene DOID:0111878 Diamond-Blackfan anemia 7 ISO RGD:1318594 D RGD:7240710 20180130 OMIM 11948847 RPL11 ribosomal protein L11 gene DOID:0111878 Diamond-Blackfan anemia 7 ISO RGD:1318594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 7 PMID:16199547|PMID:19061985|PMID:19773262|PMID:23718193|PMID:25741868|PMID:28492532|PMID:30503522 11948847 RPL11 ribosomal protein L11 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1318594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:16199547|PMID:17576681|PMID:19061985|PMID:19773262|PMID:20960466|PMID:22689679|PMID:23718193|PMID:25741868|PMID:26136524|PMID:26185635|PMID:28492532|PMID:30503522|PMID:9536098 11948847 RPL11 ribosomal protein L11 gene DOID:2355 anemia ISO RGD:1318594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia PMID:32581362 11948847 RPL11 ribosomal protein L11 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1318594 D RGD:9068941 20200609 RGD DNA:missense mutation, frameshift mutation:p.R18P, p.G30fs (human) PMID:23377281|REF_RGD_ID:11535972 11948847 RPL11 ribosomal protein L11 gene DOID:630 genetic disease ISO RGD:1318594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948847 RPL11 ribosomal protein L11 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 11948847 RPL11 ribosomal protein L11 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1318594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11948857 CA11 carbonic anhydrase 11 gene DOID:0080600 COVID-19 ISO RGD:1348503 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11948857 CA11 carbonic anhydrase 11 gene DOID:630 genetic disease ISO RGD:1348503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948874 ACTRT2 actin related protein T2 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1606455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11948874 ACTRT2 actin related protein T2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11948874 ACTRT2 actin related protein T2 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1606455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11948874 ACTRT2 actin related protein T2 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1606455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11948874 ACTRT2 actin related protein T2 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1606455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11948874 ACTRT2 actin related protein T2 gene DOID:0111934 immunodeficiency 38 ISO RGD:1606455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11948874 ACTRT2 actin related protein T2 gene DOID:0111935 immunodeficiency 16 ISO RGD:1606455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11948874 ACTRT2 actin related protein T2 gene DOID:630 genetic disease ISO RGD:1606455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948874 ACTRT2 actin related protein T2 gene DOID:9000058 Keloid ISO RGD:1606455 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 11948874 ACTRT2 actin related protein T2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11948874 ACTRT2 actin related protein T2 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1606455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11948874 ACTRT2 actin related protein T2 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1606455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11948885 LOC103784619 zinc finger protein 718 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1605256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:28492532 11948914 RAB1B RAB1B, member RAS oncogene family gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1345480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 11948914 RAB1B RAB1B, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1345480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11948914 RAB1B RAB1B, member RAS oncogene family gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1345480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11948914 RAB1B RAB1B, member RAS oncogene family gene DOID:2746 glycogen storage disease V ISO RGD:1345480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11948914 RAB1B RAB1B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1345480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948914 RAB1B RAB1B, member RAS oncogene family gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1345480 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11948914 RAB1B RAB1B, member RAS oncogene family gene DOID:9007102 Myocardial Ischemia ISO RGD:1345480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11948914 RAB1B RAB1B, member RAS oncogene family gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1345480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11948925 ACAN aggrecan gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:68507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 11948925 ACAN aggrecan gene DOID:0112282 spondyloepiphyseal dysplasia Kimberley type ISO RGD:68507 D RGD:7240710 20180130 OMIM 11948925 ACAN aggrecan gene DOID:0112282 spondyloepiphyseal dysplasia Kimberley type ISO RGD:68507 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, Kimberley type PMID:16080123|PMID:25741868|PMID:28492532 11948925 ACAN aggrecan gene DOID:10316 pneumoconiosis ISO RGD:68507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 11948925 ACAN aggrecan gene DOID:10584 retinitis pigmentosa treatment ISO RGD:735902 D RGD:9068941 20200609 RGD PMID:25646031|REF_RGD_ID:11570529 11948925 ACAN aggrecan gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:68507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12868502 11948925 ACAN aggrecan gene DOID:1824 status epilepticus ISO RGD:68358 D RGD:9068941 20200609 RGD PMID:22934955|REF_RGD_ID:11570543 11948925 ACAN aggrecan gene DOID:2256 osteochondrodysplasia ISO RGD:735902 D RGD:9068941 20200609 RGD DNA:deletion:exon PMID:7920633|REF_RGD_ID:11570525 11948925 ACAN aggrecan gene DOID:2377 multiple sclerosis ISO RGD:68507 D RGD:9068941 20200609 RGD protein:altered expression:central nervous system, plaque (human) PMID:11764092|REF_RGD_ID:2315836 11948925 ACAN aggrecan gene DOID:2717 Bloom syndrome ISO RGD:68507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11948925 ACAN aggrecan gene DOID:4480 achondroplasia ISO RGD:735902 D RGD:9068941 20220825 MouseDO OMIM:100800 11948925 ACAN aggrecan gene DOID:6000 congestive heart failure ISO RGD:68358 D RGD:9068941 20200609 RGD mRNA:increased expression:myocardium PMID:24595230|REF_RGD_ID:11570548 11948925 ACAN aggrecan gene DOID:630 genetic disease ISO RGD:68507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27870580|PMID:28492532 11948925 ACAN aggrecan gene DOID:7148 rheumatoid arthritis ISO RGD:68507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15292528 11948925 ACAN aggrecan gene DOID:7148 rheumatoid arthritis disease_progression ISO RGD:68507 D RGD:9068941 20200609 RGD protein:increased degradation:cartilage PMID:16507130|REF_RGD_ID:11570537 11948925 ACAN aggrecan gene DOID:8398 osteoarthritis treatment ISO RGD:68358 D RGD:9068941 20200609 RGD PMID:21853458|REF_RGD_ID:11570544 11948925 ACAN aggrecan gene DOID:8398 osteoarthritis treatment ISO RGD:735902 D RGD:9068941 20200609 RGD PMID:22833446|REF_RGD_ID:11570535 11948925 ACAN aggrecan gene DOID:84 osteochondritis dissecans ISO RGD:68507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteochondritis dissecans PMID:16080123|PMID:20137779|PMID:24762113|PMID:25741868|PMID:27870580|PMID:28492532 11948925 ACAN aggrecan gene DOID:90 degenerative disc disease ISO RGD:68358 D RGD:9068941 20200609 RGD mRNA:decreased expression:intervertebral disk PMID:24285589|REF_RGD_ID:11570539 11948925 ACAN aggrecan gene DOID:90 degenerative disc disease treatment ISO RGD:68358 D RGD:9068941 20200609 RGD associated with Renal Insufficiency PMID:19063844|REF_RGD_ID:10043178 11948925 ACAN aggrecan gene DOID:9000039 Spinal Cord Injuries ISO RGD:68358 D RGD:9068941 20200609 RGD protein:altered expression:spinal cord (rat) PMID:14769391|REF_RGD_ID:2315837 11948925 ACAN aggrecan gene DOID:9000998 Brain Injuries ISO RGD:68358 D RGD:9068941 20200609 RGD mRNA:increased expression:fascia dentata (rat) PMID:18511192|REF_RGD_ID:2315807 11948925 ACAN aggrecan gene DOID:9001088 Spondyloepimetaphyseal Dysplasia, Aggrecan Type ISO RGD:68507 D RGD:7240710 20180130 OMIM 11948925 ACAN aggrecan gene DOID:9001088 Spondyloepimetaphyseal Dysplasia, Aggrecan Type ISO RGD:68507 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, aggrecan type PMID:19110214|PMID:25741868|PMID:28492532|PMID:30124491 11948925 ACAN aggrecan gene DOID:9001680 SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS ISO RGD:68507 D RGD:7240710 20180130 OMIM 11948925 ACAN aggrecan gene DOID:9001680 SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS ISO RGD:68507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature and advanced bone age | ClinVar Annotator: match by term: Short stature and advanced bone age, with early-onset osteoarthritis | ClinVar Annotator: match by term: Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans PMID:14216462|PMID:16080123|PMID:19110214|PMID:20137779|PMID:24762113|PMID:25741789|PMID:25741868|PMID:27710243|PMID:27870580|PMID:28331218|PMID:28492532|PMID:29769040|PMID:31841439|PMID:34922359 11948925 ACAN aggrecan gene DOID:9002457 Experimental Arthritis treatment ISO RGD:68358 D RGD:9068941 20200609 RGD PMID:25821409|REF_RGD_ID:12879456 11948925 ACAN aggrecan gene DOID:9006496 Lordosis ISO RGD:735902 D RGD:9068941 20200609 RGD PMID:9192671|REF_RGD_ID:1300269 11948925 ACAN aggrecan gene DOID:9007096 Stroke treatment ISO RGD:68358 D RGD:9068941 20200609 RGD PMID:24664200|REF_RGD_ID:11570545 11948925 ACAN aggrecan gene DOID:9007661 Dwarfism ISO RGD:68507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11948925 ACAN aggrecan gene DOID:9008331 Tendon Injuries ISO RGD:68358 D RGD:9068941 20200609 RGD mRNA:increased expression:patellar ligament (rat) PMID:19955224|REF_RGD_ID:2315073 11948925 ACAN aggrecan gene DOID:9256 colorectal cancer ISO RGD:68507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11948925 ACAN aggrecan gene DOID:9277 primary cerebellar degeneration ISO RGD:735902 D RGD:9068941 20200609 RGD PMID:9192671|REF_RGD_ID:1300269 11948948 REPIN1 replication initiator 1 gene DOID:2843 long QT syndrome ISO RGD:1347617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 11948948 REPIN1 replication initiator 1 gene DOID:630 genetic disease ISO RGD:1347617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948955 ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1321777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11948955 ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1321777 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11948955 ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1321777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11948955 ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1321777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11948955 ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1321777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11948955 ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1321777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11948955 ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:0111934 immunodeficiency 38 ISO RGD:1321777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11948955 ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:0111935 immunodeficiency 16 ISO RGD:1321777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11948955 ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:630 genetic disease ISO RGD:1321777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948955 ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11948955 ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1321777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11948955 ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1321777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11948981 CYP11B2 cytochrome P450 family 11 subfamily B member 2 gene DOID:0050891 adrenal cortical adenoma ISO RGD:736494 D RGD:9068941 20230427 RGD mRNA:increased expression:adrenal gland (human) PMID:12457455|REF_RGD_ID:4891170 11948981 CYP11B2 cytochrome P450 family 11 subfamily B member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:736494 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11948981 CYP11B2 cytochrome P450 family 11 subfamily B member 2 gene DOID:0080626 corticosterone methyloxidase deficiency 1 ISO RGD:736494 D RGD:7240710 20230505 OMIM 11948981 CYP11B2 cytochrome P450 family 11 subfamily B member 2 gene DOID:0080626 corticosterone methyloxidase deficiency 1 ISO RGD:736494 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: 18 alpha hydroxylase deficiency | ClinVar Annotator: match by term: Corticosterone 18-monooxygenase deficiency | ClinVar Annotator: match by term: Corticosterone methyl oxidase type II deficiency | ClinVar Annotator: match by term: Corticosterone methyloxidase type 1 deficiency | ClinVar Annotator: match by term: STEROID 18-HYDROXYLASE DEFICIENCY | ClinVar Annotator: match by term: STEROID 18-OXIDASE DEFICIENCY PMID:10965212|PMID:11174838|PMID:11196457|PMID:11238478|PMID:11549691|PMID:12788848|PMID:1346492|PMID:14250395|PMID:15240589|PMID:1594605|PMID:16118341|PMID:16199547|PMID:16733366|PMID:17576681|PMID:18710464|PMID:2044581|PMID:20494601|PMID:20639134|PMID:21237269|PMID:22465514|PMID:22565077|PMID:22801770|PMID:22931312|PMID:23062999|PMID:24033266|PMID:25102047|PMID:25741868|PMID:25968592|PMID:26936515|PMID:26956189|PMID:28492532|PMID:29201470|PMID:30864636|PMID:33098647|PMID:7485152|PMID:7792802|PMID:8530633|PMID:8954040|PMID:9177280|PMID:9360501|PMID:9536098|PMID:9625333|PMID:9703385|PMID:9814506 11948981 CYP11B2 cytochrome P450 family 11 subfamily B member 2 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:736494 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 11948981 CYP11B2 cytochrome P450 family 11 subfamily B member 2 gene DOID:0110429 dilated cardiomyopathy 1H treatment ISO RGD:736494 D RGD:9068941 20230427 RGD DNA:SNP:promoter:-344C>T (human) PMID:12031704|REF_RGD_ID:1576426 11948981 CYP11B2 cytochrome P450 family 11 subfamily B member 2 gene DOID:10591 pre-eclampsia ISO RGD:736494 D RGD:9068941 20230427 RGD DNA:missense mutation:cds:p.V386A (human) PMID:15569322|REF_RGD_ID:1576428 11948981 CYP11B2 cytochrome P450 family 11 subfamily B member 2 gene DOID:10763 hypertension ISO RGD:736494 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Aldosterone to renin ratio, increased PMID:12213905|PMID:12788845|PMID:17003099 11948981 CYP11B2 cytochrome P450 family 11 subfamily B member 2 gene DOID:14080 glucocorticoid-remediable aldosteronism ISO RGD:736494 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Glucocorticoid-remediable aldosteronism PMID:10965212|PMID:11174838|PMID:11549691|PMID:1594605|PMID:16118341|PMID:18710464|PMID:22465514|PMID:22931312|PMID:24033266|PMID:25102047|PMID:25741868|PMID:28492532|PMID:33098647|PMID:8530633|PMID:8954040|PMID:9703385|PMID:9814506 11948981 CYP11B2 cytochrome P450 family 11 subfamily B member 2 gene DOID:446 primary hyperaldosteronism ISO RGD:736494 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:11085685 11948981 CYP11B2 cytochrome P450 family 11 subfamily B member 2 gene DOID:446 primary hyperaldosteronism ISO RGD:736494 D RGD:9068941 20230427 RGD DNA:gene fusion:intron:Cyp11b1 (human) PMID:1731223|REF_RGD_ID:4891155 11948981 CYP11B2 cytochrome P450 family 11 subfamily B member 2 gene DOID:4621 holoprosencephaly ISO RGD:736494 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11948981 CYP11B2 cytochrome P450 family 11 subfamily B member 2 gene DOID:630 genetic disease ISO RGD:736494 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11948981 CYP11B2 cytochrome P450 family 11 subfamily B member 2 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:736494 D RGD:9068941 20230427 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:-344C>T (human) PMID:16672053|REF_RGD_ID:2307295 11948981 CYP11B2 cytochrome P450 family 11 subfamily B member 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736494 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:25735316 11948981 CYP11B2 cytochrome P450 family 11 subfamily B member 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:736494 D RGD:9068941 20230427 RGD DNA:transition:5' utr:-344C>T (human) PMID:9494027|REF_RGD_ID:4891150 11948981 CYP11B2 cytochrome P450 family 11 subfamily B member 2 gene DOID:9004616 Left Ventricular Hypertrophy no_association ISO RGD:736494 D RGD:9068941 20230427 RGD DNA:transition:5' utr:-344C>T (human) PMID:11275936|REF_RGD_ID:4891151 11948981 CYP11B2 cytochrome P450 family 11 subfamily B member 2 gene DOID:9005658 Hypoaldosteronism ISO RGD:736494 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:11238478 11948981 CYP11B2 cytochrome P450 family 11 subfamily B member 2 gene DOID:9005658 Hypoaldosteronism ISO RGD:736494 D RGD:9068941 20230427 RGD CMO II deficiency, OMIM:610600; protein:missense mutations:cds:p.R181W, p.V386A (human) PMID:1594605|REF_RGD_ID:1600824 11948981 CYP11B2 cytochrome P450 family 11 subfamily B member 2 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:736494 D RGD:9068941 20230427 RGD DNA:polymorphism:promoter:-344C>T (human) PMID:17261471|REF_RGD_ID:2307294 11948981 CYP11B2 cytochrome P450 family 11 subfamily B member 2 gene DOID:9007096 Stroke ISO RGD:736494 D RGD:9068941 20230427 RGD associated with Hypertension;DNA:polymorphism PMID:15894891|REF_RGD_ID:2307308 11948981 CYP11B2 cytochrome P450 family 11 subfamily B member 2 gene DOID:9351 diabetes mellitus ISO RGD:736494 D RGD:9068941 20230427 RGD DNA:polymorphisms:5' utr, cds:-344C>T, p.K173R (human) PMID:11687612|REF_RGD_ID:2307297 11948981 CYP11B2 cytochrome P450 family 11 subfamily B member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736494 D RGD:9068941 20230427 RGD DNA:polymorphism:promoter:-344C>T (human) PMID:18771471|REF_RGD_ID:2307288 11948992 ZXDC ZXD family zinc finger C gene DOID:630 genetic disease ISO RGD:1607003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11948992 ZXDC ZXD family zinc finger C gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1607003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 11948992 ZXDC ZXD family zinc finger C gene DOID:9270 alkaptonuria ISO RGD:1607003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11949019 TTC24 tetratricopeptide repeat domain 24 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11949019 TTC24 tetratricopeptide repeat domain 24 gene DOID:0111940 immunodeficiency 42 ISO RGD:1602975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11949019 TTC24 tetratricopeptide repeat domain 24 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1602975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11949019 TTC24 tetratricopeptide repeat domain 24 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1602975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11949019 TTC24 tetratricopeptide repeat domain 24 gene DOID:1540 parathyroid carcinoma ISO RGD:1602975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11949019 TTC24 tetratricopeptide repeat domain 24 gene DOID:5812 MHC class II deficiency ISO RGD:1602975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11949019 TTC24 tetratricopeptide repeat domain 24 gene DOID:630 genetic disease ISO RGD:1602975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949019 TTC24 tetratricopeptide repeat domain 24 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11949034 USH1G USH1 protein network component sans gene DOID:0050439 Usher syndrome ISO RGD:1312053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome 11949034 USH1G USH1 protein network component sans gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1312053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:25741868|PMID:30303587 11949034 USH1G USH1 protein network component sans gene DOID:0110826 Usher syndrome type 1 ISO RGD:1312053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:11941484|PMID:12588794|PMID:21569298|PMID:25741868|PMID:28492532 11949034 USH1G USH1 protein network component sans gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:1312053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome 11949034 USH1G USH1 protein network component sans gene DOID:0110834 Usher syndrome type 1G ISO RGD:1312053 D RGD:7240710 20180130 OMIM 11949034 USH1G USH1 protein network component sans gene DOID:0110834 Usher syndrome type 1G ISO RGD:1312053 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: USH1G-Related Disorders | ClinVar Annotator: match by term: Usher syndrome type 1G PMID:11941484|PMID:12588794|PMID:15660226|PMID:16283141|PMID:17576681|PMID:17896313|PMID:20142502|PMID:21044053|PMID:22135276|PMID:22219650|PMID:23591405|PMID:24033266|PMID:25255398|PMID:25741868|PMID:26467025|PMID:26878454|PMID:27068579|PMID:27353947|PMID:28224992|PMID:28492532|PMID:28944237|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30828346|PMID:31637240|PMID:33095980|PMID:33946315|PMID:35802133|PMID:36633841|PMID:9536098 11949034 USH1G USH1 protein network component sans gene DOID:630 genetic disease ISO RGD:1312053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 11949034 USH1G USH1 protein network component sans gene DOID:9004538 Hearing Loss ISO RGD:1312053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:25255398|PMID:25741868|PMID:27068579|PMID:27353947|PMID:28492532|PMID:30245029|PMID:30311386|PMID:30828346|PMID:30872814|PMID:31637240 11949034 USH1G USH1 protein network component sans gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1312053 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment PMID:30029624 11949034 USH1G USH1 protein network component sans gene DOID:9008681 Deafness ISO RGD:1312053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:25741868|PMID:30303587 11949043 RB1CC1 RB1 inducible coiled-coil 1 gene DOID:12849 autistic disorder ISO RGD:1319644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11949043 RB1CC1 RB1 inducible coiled-coil 1 gene DOID:1612 breast cancer ISO RGD:1319644 D RGD:7240710 20180711 OMIM 11949043 RB1CC1 RB1 inducible coiled-coil 1 gene DOID:3458 breast adenocarcinoma ISO RGD:1319644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast adenocarcinoma PMID:12068296 11949043 RB1CC1 RB1 inducible coiled-coil 1 gene DOID:5419 schizophrenia ISO RGD:1319644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11949043 RB1CC1 RB1 inducible coiled-coil 1 gene DOID:630 genetic disease ISO RGD:1319644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949043 RB1CC1 RB1 inducible coiled-coil 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1319644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 11949043 RB1CC1 RB1 inducible coiled-coil 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1319644 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 11949087 LOC100974682 histone H2A.V gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11949105 ATMIN ATM interactor gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1603699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:28492532 11949105 ATMIN ATM interactor gene DOID:630 genetic disease ISO RGD:1603699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949113 MPC2 mitochondrial pyruvate carrier 2 gene DOID:0111942 immunodeficiency 25 ISO RGD:1604029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 11949113 MPC2 mitochondrial pyruvate carrier 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1604029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11949113 MPC2 mitochondrial pyruvate carrier 2 gene DOID:630 genetic disease ISO RGD:1604029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949113 MPC2 mitochondrial pyruvate carrier 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11949122 STXBP5L syntaxin binding protein 5L gene DOID:630 genetic disease ISO RGD:1323085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949122 STXBP5L syntaxin binding protein 5L gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1323085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 11949122 STXBP5L syntaxin binding protein 5L gene DOID:9270 alkaptonuria ISO RGD:1323085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11949161 TMTC1 transmembrane O-mannosyltransferase targeting cadherins 1 gene DOID:0080600 COVID-19 ISO RGD:1605326 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11949161 TMTC1 transmembrane O-mannosyltransferase targeting cadherins 1 gene DOID:630 genetic disease ISO RGD:1605326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949191 SPMIP7 sperm microtubule inner protein 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2902413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11949203 LOC100978488 olfactory receptor 52D1 gene DOID:630 genetic disease ISO RGD:1344092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949208 PLPPR2 phospholipid phosphatase related 2 gene DOID:630 genetic disease ISO RGD:1604322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949226 SPO11 SPO11 initiator of meiotic double stranded breaks gene DOID:0070168 spermatogenic failure 3 ISO RGD:1315081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 11949226 SPO11 SPO11 initiator of meiotic double stranded breaks gene DOID:630 genetic disease ISO RGD:1315081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949248 UGT3A1 UDP glycosyltransferase family 3 member A1 gene DOID:630 genetic disease ISO RGD:1601933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949248 UGT3A1 UDP glycosyltransferase family 3 member A1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11949270 ODAD3 outer dynein arm docking complex subunit 3 gene DOID:0050144 Kartagener syndrome ISO RGD:1603185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:25192045|PMID:25224326|PMID:25741868|PMID:28492532 11949270 ODAD3 outer dynein arm docking complex subunit 3 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1603185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11949270 ODAD3 outer dynein arm docking complex subunit 3 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1603185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11949270 ODAD3 outer dynein arm docking complex subunit 3 gene DOID:0110624 primary ciliary dyskinesia 30 ISO RGD:1603185 D RGD:7240710 20180130 OMIM 11949270 ODAD3 outer dynein arm docking complex subunit 3 gene DOID:0110624 primary ciliary dyskinesia 30 ISO RGD:1603185 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 30 PMID:16199547|PMID:17576681|PMID:24033266|PMID:25192045|PMID:25224326|PMID:25741868|PMID:28492532|PMID:31213628|PMID:32111882|PMID:9536098 11949270 ODAD3 outer dynein arm docking complex subunit 3 gene DOID:0111254 glutaric acidemia I ISO RGD:1603185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11949270 ODAD3 outer dynein arm docking complex subunit 3 gene DOID:3413 alpha-mannosidosis ISO RGD:1603185 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11949270 ODAD3 outer dynein arm docking complex subunit 3 gene DOID:630 genetic disease ISO RGD:1603185 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11949270 ODAD3 outer dynein arm docking complex subunit 3 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1603185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycystic liver disease 1 11949270 ODAD3 outer dynein arm docking complex subunit 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1603185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 11949290 HEXIM2 HEXIM P-TEFb complex subunit 2 gene DOID:630 genetic disease ISO RGD:1601726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949323 LKAAEAR1 LKAAEAR motif containing 1 gene DOID:630 genetic disease ISO RGD:1604727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949335 PRPS2 phosphoribosyl pyrophosphate synthetase 2 gene DOID:12849 autistic disorder ISO RGD:737326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11949335 PRPS2 phosphoribosyl pyrophosphate synthetase 2 gene DOID:630 genetic disease ISO RGD:737326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949335 PRPS2 phosphoribosyl pyrophosphate synthetase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11949351 BCAR3 BCAR3 adaptor protein, NSP family member gene DOID:303 substance-related disorder ISO RGD:36174057 D RGD:9068941 20210129 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11949351 BCAR3 BCAR3 adaptor protein, NSP family member gene DOID:630 genetic disease ISO RGD:36174057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949351 BCAR3 BCAR3 adaptor protein, NSP family member gene DOID:9008939 Breast Neoplasms ISO RGD:36174057 D RGD:9068941 20210129 CTD CTD Direct Evidence: marker/mechanism PMID:19075277 11949378 MALT1 MALT1 paracaspase gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1319401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21173233 11949378 MALT1 MALT1 paracaspase gene DOID:0060058 lymphoma ISO RGD:1319401 D RGD:9068941 20200609 RGD PMID:10523859|REF_RGD_ID:1599913 11949378 MALT1 MALT1 paracaspase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1319401 D RGD:9068941 20200609 RGD PMID:12560219|REF_RGD_ID:1599912 11949378 MALT1 MALT1 paracaspase gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1319401 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 11949378 MALT1 MALT1 paracaspase gene DOID:0111988 immunodeficiency 12 ISO RGD:1319401 D RGD:7240710 20180130 OMIM 11949378 MALT1 MALT1 paracaspase gene DOID:0111988 immunodeficiency 12 ISO RGD:1319401 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23727036|PMID:24332264|PMID:25627829|PMID:25741868|PMID:27068814|PMID:28492532|PMID:35079916|PMID:9536098 11949378 MALT1 MALT1 paracaspase gene DOID:627 severe combined immunodeficiency ISO RGD:1319401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 11949378 MALT1 MALT1 paracaspase gene DOID:630 genetic disease ISO RGD:1319401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11949398 SV2C synaptic vesicle glycoprotein 2C gene DOID:12377 spinal muscular atrophy ISO RGD:1551020 D RGD:9068941 20211203 RGD protein:decreased expression:transversus abdominis muscle, axon terminus (mouse) PMID:28173138|REF_RGD_ID:11535337 11949398 SV2C synaptic vesicle glycoprotein 2C gene DOID:630 genetic disease ISO RGD:1346779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949398 SV2C synaptic vesicle glycoprotein 2C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11949419 KCTD15 potassium channel tetramerization domain containing 15 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1313572 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11949419 KCTD15 potassium channel tetramerization domain containing 15 gene DOID:630 genetic disease ISO RGD:1313572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949419 KCTD15 potassium channel tetramerization domain containing 15 gene DOID:9970 obesity ISO RGD:1313572 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19079261 11949436 ZNF195 zinc finger protein 195 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1352529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11949436 ZNF195 zinc finger protein 195 gene DOID:0080773 delta beta-thalassemia ISO RGD:1352529 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11949436 ZNF195 zinc finger protein 195 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1352529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11949436 ZNF195 zinc finger protein 195 gene DOID:630 genetic disease ISO RGD:1352529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949446 NEUROD6 neuronal differentiation 6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11949446 NEUROD6 neuronal differentiation 6 gene DOID:630 genetic disease ISO RGD:1343073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949452 KDM3B lysine demethylase 3B gene DOID:0060041 autism spectrum disorder ISO RGD:1343523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11949452 KDM3B lysine demethylase 3B gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1343523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11949452 KDM3B lysine demethylase 3B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343523 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11949452 KDM3B lysine demethylase 3B gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:1343523 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 PMID:25741868 11949452 KDM3B lysine demethylase 3B gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1343523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 11949452 KDM3B lysine demethylase 3B gene DOID:11832 visual epilepsy ISO RGD:1583423 D RGD:9068941 20200609 RGD PMID:24397026|REF_RGD_ID:9590119 11949452 KDM3B lysine demethylase 3B gene DOID:1612 breast cancer severity ISO RGD:1343523 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast (human) PMID:23266085|REF_RGD_ID:9586731 11949452 KDM3B lysine demethylase 3B gene DOID:1826 epilepsy ISO RGD:1343523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rare genetic epilepsy PMID:25741868 11949452 KDM3B lysine demethylase 3B gene DOID:2030 anxiety disorder ISO RGD:1583423 D RGD:9068941 20200609 RGD PMID:24397026|REF_RGD_ID:9590119 11949452 KDM3B lysine demethylase 3B gene DOID:3908 lung non-small cell carcinoma ISO RGD:1343523 D RGD:9068941 20200609 RGD DNA:amplification:lung, peripheral blood mononuclear cell (human) PMID:18975135|REF_RGD_ID:9586737 11949452 KDM3B lysine demethylase 3B gene DOID:630 genetic disease ISO RGD:1343523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:30929739 11949452 KDM3B lysine demethylase 3B gene DOID:9000659 Heavy Metal Toxicity ISO RGD:1343523 D RGD:9068941 20210312 CTD CTD Direct Evidence: therapeutic PMID:21262293 11949452 KDM3B lysine demethylase 3B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11949452 KDM3B lysine demethylase 3B gene DOID:9005801 Diets-Jongmans Syndrome ISO RGD:1343523 D RGD:7240710 20200624 OMIM 11949452 KDM3B lysine demethylase 3B gene DOID:9005801 Diets-Jongmans Syndrome ISO RGD:1343523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diets-Jongmans syndrome PMID:25741868|PMID:29351919|PMID:30929739 11949452 KDM3B lysine demethylase 3B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343523 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11949452 KDM3B lysine demethylase 3B gene DOID:9008086 Developmental Disabilities ISO RGD:1343523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11949452 KDM3B lysine demethylase 3B gene DOID:9008582 Developmental Disease ISO RGD:1343523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11949452 KDM3B lysine demethylase 3B gene DOID:9256 colorectal cancer severity ISO RGD:1343523 D RGD:9068941 20200609 RGD protein:decreased expression:colon mucosa (human) PMID:22345654|REF_RGD_ID:9586735 11949452 KDM3B lysine demethylase 3B gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1343523 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow, mononuclear cell (human) PMID:22615488|REF_RGD_ID:9586728 11949481 HOXD3 homeobox D3 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1344554 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11949481 HOXD3 homeobox D3 gene DOID:630 genetic disease ISO RGD:1344554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949481 HOXD3 homeobox D3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19283074 11949489 FMOD fibromodulin gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1353289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11949489 FMOD fibromodulin gene DOID:1540 parathyroid carcinoma ISO RGD:1353289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11949489 FMOD fibromodulin gene DOID:3087 gingivitis ISO RGD:1353289 D RGD:9068941 20200609 RGD protein:increased expression:gingiva PMID:15196146|REF_RGD_ID:2315079 11949489 FMOD fibromodulin gene DOID:630 genetic disease ISO RGD:1353289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949489 FMOD fibromodulin gene DOID:824 periodontitis ISO RGD:1353289 D RGD:9068941 20200609 RGD protein:increased expression:gingiva PMID:15196146|REF_RGD_ID:2315079 11949489 FMOD fibromodulin gene DOID:824 periodontitis ISO RGD:733886 D RGD:9068941 20200609 RGD protein:increased expression:gingiva PMID:15196146|REF_RGD_ID:2315079 11949489 FMOD fibromodulin gene DOID:9002165 Diabetic Nephropathies ISO RGD:1353289 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:Kidney Glomerulus PMID:11259366|REF_RGD_ID:2311416 11949489 FMOD fibromodulin gene DOID:9002165 Diabetic Nephropathies ISO RGD:733886 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;mRNA:decreased expression:kidney cortex PMID:16868749|REF_RGD_ID:2311412 11949489 FMOD fibromodulin gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1353289 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11949489 FMOD fibromodulin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11949489 FMOD fibromodulin gene DOID:971 tendinitis ISO RGD:619769 D RGD:9068941 20200609 RGD PMID:19955224|REF_RGD_ID:2315073 11949496 GORASP1 golgi reassembly stacking protein 1 gene DOID:630 genetic disease ISO RGD:1348402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949517 CNOT6 CCR4-NOT transcription complex subunit 6 gene DOID:630 genetic disease ISO RGD:1347023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949551 LOC100993494 olfactory receptor 10G2 gene DOID:630 genetic disease ISO RGD:1343948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949551 LOC100993494 olfactory receptor 10G2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343948 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11949554 MCM8 minichromosome maintenance 8 homologous recombination repair factor gene DOID:0080867 primary ovarian insufficiency 10 ISO RGD:1313114 D RGD:7240710 20180130 OMIM 11949554 MCM8 minichromosome maintenance 8 homologous recombination repair factor gene DOID:0080867 primary ovarian insufficiency 10 ISO RGD:1313114 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 10 PMID:25437880|PMID:25741868|PMID:25873734|PMID:31042289 11949554 MCM8 minichromosome maintenance 8 homologous recombination repair factor gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1313114 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11949554 MCM8 minichromosome maintenance 8 homologous recombination repair factor gene DOID:14227 azoospermia ISO RGD:1313114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 11949554 MCM8 minichromosome maintenance 8 homologous recombination repair factor gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1313114 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11949554 MCM8 minichromosome maintenance 8 homologous recombination repair factor gene DOID:630 genetic disease ISO RGD:1313114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949584 NEK6 NIMA related kinase 6 gene DOID:630 genetic disease ISO RGD:1347059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949584 NEK6 NIMA related kinase 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11949601 CKS2 CDC28 protein kinase regulatory subunit 2 gene DOID:0080600 COVID-19 ISO RGD:1348782 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11949601 CKS2 CDC28 protein kinase regulatory subunit 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1348782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11949652 TEKT2 tektin 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1322323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11949652 TEKT2 tektin 2 gene DOID:630 genetic disease ISO RGD:1322323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949673 ADGRE3 adhesion G protein-coupled receptor E3 gene DOID:630 genetic disease ISO RGD:1606765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949693 CIAO1 cytosolic iron-sulfur assembly component 1 gene DOID:1059 intellectual disability ISO RGD:1354495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11949693 CIAO1 cytosolic iron-sulfur assembly component 1 gene DOID:5419 schizophrenia ISO RGD:1354495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11949693 CIAO1 cytosolic iron-sulfur assembly component 1 gene DOID:630 genetic disease ISO RGD:1354495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949711 KLHL11 kelch like family member 11 gene DOID:630 genetic disease ISO RGD:1315423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949721 CA14 carbonic anhydrase 14 gene DOID:0111940 immunodeficiency 42 ISO RGD:1317436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11949721 CA14 carbonic anhydrase 14 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1317436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11949721 CA14 carbonic anhydrase 14 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1317436 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11949721 CA14 carbonic anhydrase 14 gene DOID:1540 parathyroid carcinoma ISO RGD:1317436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11949721 CA14 carbonic anhydrase 14 gene DOID:5812 MHC class II deficiency ISO RGD:1317436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11949721 CA14 carbonic anhydrase 14 gene DOID:630 genetic disease ISO RGD:1317436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949721 CA14 carbonic anhydrase 14 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11949745 LDHAL6B lactate dehydrogenase A like 6B gene DOID:0111131 focal segmental glomerulosclerosis 6 ISO RGD:1342929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 PMID:25741868 11949745 LDHAL6B lactate dehydrogenase A like 6B gene DOID:2717 Bloom syndrome ISO RGD:1342929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11949745 LDHAL6B lactate dehydrogenase A like 6B gene DOID:630 genetic disease ISO RGD:1342929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949745 LDHAL6B lactate dehydrogenase A like 6B gene DOID:9008939 Breast Neoplasms ISO RGD:1342929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 11949745 LDHAL6B lactate dehydrogenase A like 6B gene DOID:9256 colorectal cancer ISO RGD:1342929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11949750 HPRT1 hypoxanthine phosphoribosyltransferase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11949750 HPRT1 hypoxanthine phosphoribosyltransferase 1 gene DOID:0112127 HRPT-related hyperuricemia ISO RGD:731296 D RGD:7240710 20180130 OMIM 11949750 HPRT1 hypoxanthine phosphoribosyltransferase 1 gene DOID:0112127 HRPT-related hyperuricemia ISO RGD:731296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HPRT1-Related Disorder | ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency PMID:10737990|PMID:11018746|PMID:11891689|PMID:1301916|PMID:1483694|PMID:15386453|PMID:15505382|PMID:1551676|PMID:15571220|PMID:16199547|PMID:16549399|PMID:17027311|PMID:17454734|PMID:17576681|PMID:1781350|PMID:18600506|PMID:19016344|PMID:1937471|PMID:20176575|PMID:2071157|PMID:20981450|PMID:22132984|PMID:22157001|PMID:2246854|PMID:22999896|PMID:2323782|PMID:2347587|PMID:2358296|PMID:23597535|PMID:23975452|PMID:25136576|PMID:2516172|PMID:25481104|PMID:25741868|PMID:2738157|PMID:28045594|PMID:28492532|PMID:2896620|PMID:2928313|PMID:3358423|PMID:3384338|PMID:6087154|PMID:6204922|PMID:6309910|PMID:6706936|PMID:7987318|PMID:8111415|PMID:8125482|PMID:9288634|PMID:9536098|PMID:9799086 11949750 HPRT1 hypoxanthine phosphoribosyltransferase 1 gene DOID:10907 microcephaly ISO RGD:731296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:15571220|PMID:17027311|PMID:22157001|PMID:2323782|PMID:23975452|PMID:25481104|PMID:25741868|PMID:28492532 11949750 HPRT1 hypoxanthine phosphoribosyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:731296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11949750 HPRT1 hypoxanthine phosphoribosyltransferase 1 gene DOID:1919 Lesch-Nyhan syndrome ISO RGD:731296 D RGD:7240710 20180130 OMIM 11949750 HPRT1 hypoxanthine phosphoribosyltransferase 1 gene DOID:1919 Lesch-Nyhan syndrome ISO RGD:731296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lesch-Nyhan syndrome PMID:10767182|PMID:11018746|PMID:11668636|PMID:1434518|PMID:15505382|PMID:1551676|PMID:15571220|PMID:1618489|PMID:1639405|PMID:16549399|PMID:17027311|PMID:17454734|PMID:1781350|PMID:1840549|PMID:1937471|PMID:20176575|PMID:2071157|PMID:22132984|PMID:22157001|PMID:2323782|PMID:2347587|PMID:23975452|PMID:2516172|PMID:25481104|PMID:25741868|PMID:2738157|PMID:2760209|PMID:28492532|PMID:28708303|PMID:2910902|PMID:2928313|PMID:31182398|PMID:3198771|PMID:3384338|PMID:3909940|PMID:3944251|PMID:6087154|PMID:6853716|PMID:8664901 11949750 HPRT1 hypoxanthine phosphoribosyltransferase 1 gene DOID:1920 hyperuricemia ISO RGD:731296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23348497 11949750 HPRT1 hypoxanthine phosphoribosyltransferase 1 gene DOID:630 genetic disease ISO RGD:731296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11018746|PMID:1301916|PMID:23975452|PMID:24940672|PMID:25420563|PMID:25481104|PMID:25482009|PMID:28492532|PMID:9003484 11949750 HPRT1 hypoxanthine phosphoribosyltransferase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:2826 D RGD:9068941 20200609 RGD protein:increased activity:hepatoma (rat) PMID:6327016|REF_RGD_ID:5135035 11949750 HPRT1 hypoxanthine phosphoribosyltransferase 1 gene DOID:9005497 Lesch-Nyhan Syndrome, Neurologic Variant ISO RGD:731296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lesch-nyhan syndrome, neurologic variant PMID:10737990|PMID:1301916|PMID:17454734|PMID:20981450|PMID:22157001|PMID:22999896|PMID:2358296|PMID:25481104|PMID:28492532 11949750 HPRT1 hypoxanthine phosphoribosyltransferase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2826 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:3043317|REF_RGD_ID:5135485 11949750 HPRT1 hypoxanthine phosphoribosyltransferase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1549982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11949768 LOC100984072 taste receptor type 2 member 46 gene DOID:630 genetic disease ISO RGD:1353935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949772 CEP250 centrosomal protein 250 gene DOID:0050439 Usher syndrome ISO RGD:1347521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:24780881|PMID:25741868 11949772 CEP250 centrosomal protein 250 gene DOID:10584 retinitis pigmentosa ISO RGD:1618420 D RGD:9068941 20220825 MouseDO 11949772 CEP250 centrosomal protein 250 gene DOID:630 genetic disease ISO RGD:1347521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11949772 CEP250 centrosomal protein 250 gene DOID:8501 fundus dystrophy ISO RGD:1347521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28005958|PMID:28492532 11949772 CEP250 centrosomal protein 250 gene DOID:9008509 Cone-Rod Dystrophy and Hearing Loss 2 ISO RGD:1347521 D RGD:7240710 20190424 OMIM 11949772 CEP250 centrosomal protein 250 gene DOID:9008509 Cone-Rod Dystrophy and Hearing Loss 2 ISO RGD:1347521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 2 PMID:24780881|PMID:25741868|PMID:28492532|PMID:29718797|PMID:30459346|PMID:30998843 11949825 UBE2M ubiquitin conjugating enzyme E2 M gene DOID:630 genetic disease ISO RGD:1316910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949835 KLHL29 kelch like family member 29 gene DOID:630 genetic disease ISO RGD:1605890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949855 MRPL52 mitochondrial ribosomal protein L52 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1319568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11949855 MRPL52 mitochondrial ribosomal protein L52 gene DOID:630 genetic disease ISO RGD:1319568 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949855 MRPL52 mitochondrial ribosomal protein L52 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1319568 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11949855 MRPL52 mitochondrial ribosomal protein L52 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319568 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11949882 LCP1 lymphocyte cytosolic protein 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1317977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11949882 LCP1 lymphocyte cytosolic protein 1 gene DOID:630 genetic disease ISO RGD:1317977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949882 LCP1 lymphocyte cytosolic protein 1 gene DOID:9000955 Acute Otitis Media ISO RGD:8892287 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:mucosa of middle ear PMID:26711468|REF_RGD_ID:11553828 11949882 LCP1 lymphocyte cytosolic protein 1 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1317977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 11949882 LCP1 lymphocyte cytosolic protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11949883 DMRTB1 DMRT like family B with proline rich C-terminal 1 gene DOID:630 genetic disease ISO RGD:1349847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949913 MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:735850 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11949913 MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:0080271 nephrotic syndrome type 15 ISO RGD:735850 D RGD:7240710 20190315 OMIM 11949913 MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:0080271 nephrotic syndrome type 15 ISO RGD:735850 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 15 PMID:18414213|PMID:25741868|PMID:26467025|PMID:27932480|PMID:28492532|PMID:30986657 11949913 MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:10283 prostate cancer ISO RGD:735850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11949913 MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:2030 anxiety disorder ISO RGD:735850 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25653350 11949913 MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11949913 MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:5419 schizophrenia ISO RGD:735850 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11949913 MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:630 genetic disease ISO RGD:735850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532 11949913 MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:735850 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25653350 11949913 MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:735850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 11949913 MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:9008023 Memory Disorders ISO RGD:735850 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25653350 11949952 IRF8 interferon regulatory factor 8 gene DOID:0060761 familial chronic myelocytic leukemia-like syndrome ISO RGD:1621626 D RGD:9068941 20220825 MouseDO OMIM:600080 11949952 IRF8 interferon regulatory factor 8 gene DOID:0070004 myeloid neoplasm ISO RGD:1621626 D RGD:9068941 20200609 RGD PMID:20585039|REF_RGD_ID:11530030 11949952 IRF8 interferon regulatory factor 8 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1621626 D RGD:9068941 20200609 RGD PMID:20585039|REF_RGD_ID:11530030 11949952 IRF8 interferon regulatory factor 8 gene DOID:0111985 immunodeficiency 32B ISO RGD:1351360 D RGD:7240710 20190315 OMIM 11949952 IRF8 interferon regulatory factor 8 gene DOID:0111985 immunodeficiency 32B ISO RGD:1351360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 32B PMID:16199547|PMID:17576681|PMID:21524210|PMID:24435047|PMID:25122610|PMID:25741868|PMID:26038974|PMID:27893462|PMID:28492532|PMID:30840779|PMID:32499645|PMID:6279813|PMID:9536098 11949952 IRF8 interferon regulatory factor 8 gene DOID:0111986 immunodeficiency 32A ISO RGD:1351360 D RGD:7240710 20180130 OMIM 11949952 IRF8 interferon regulatory factor 8 gene DOID:0111986 immunodeficiency 32A ISO RGD:1351360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency PMID:21524210|PMID:25741868|PMID:28492532 11949952 IRF8 interferon regulatory factor 8 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1351360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 11949952 IRF8 interferon regulatory factor 8 gene DOID:2377 multiple sclerosis ISO RGD:1351360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19525953 11949952 IRF8 interferon regulatory factor 8 gene DOID:612 primary immunodeficiency disease ISO RGD:1351360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868|PMID:28492532|PMID:32499645 11949952 IRF8 interferon regulatory factor 8 gene DOID:630 genetic disease ISO RGD:1351360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11949952 IRF8 interferon regulatory factor 8 gene DOID:7148 rheumatoid arthritis ISO RGD:1351360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 11949952 IRF8 interferon regulatory factor 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11949952 IRF8 interferon regulatory factor 8 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1351360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0014667 disease of metabolism ISO RGD:731747 D RGD:9068941 20220825 MouseDO 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:25741868|PMID:28492532 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:731746 D RGD:7240710 20180130 OMIM 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15385933|PMID:15389709|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15644411|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16498234|PMID:16518851|PMID:16533526|PMID:16631468|PMID:16638574|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17935252|PMID:17972951|PMID:18241070|PMID:18253957|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18562489|PMID:18678287|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:18925961|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19352411|PMID:19509418|PMID:19568997|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19773259|PMID:19825837|PMID:19835954|PMID:19864201|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20651068|PMID:20718194|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21204800|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21533187|PMID:21548061|PMID:21555152|PMID:21567923|PMID:21590266|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22190897|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:23297836|PMID:23317994|PMID:23321623|PMID:23334666|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23813970|PMID:23825065|PMID:23832011|PMID:24033266|PMID:24037001|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24891296|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:25722345|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25917897|PMID:26084119|PMID:26203125|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27783593|PMID:28051113|PMID:28074573|PMID:28098151|PMID:28135719|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:28921562|PMID:28957739|PMID:28991257|PMID:29038591|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29493581|PMID:29555671|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31219622|PMID:31263281|PMID:31560489|PMID:31637070|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32824488|PMID:32860008|PMID:32901917|PMID:33091040|PMID:33318624|PMID:34006472|PMID:34008892|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0050469 Costello syndrome ISO RGD:731746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17703371 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0050700 cardiomyopathy ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:18759865|PMID:21934682|PMID:22923420|PMID:24033266|PMID:24803665|PMID:25500235|PMID:25612910|PMID:25741868|PMID:27153395|PMID:28051113|PMID:28492532 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0050868 hepatocellular adenoma ISO RGD:731747 D RGD:9068941 20220825 MouseDO 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060041 autism spectrum disorder ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060058 lymphoma ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lymphoma PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:24033266|PMID:24037001|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24803665|PMID:24935154|PMID:25156961|PMID:25337068|PMID:25741868|PMID:25741869|PMID:25862627|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:27038324|PMID:27104176|PMID:28492532|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30692697|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32901917|PMID:34008892 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CFC syndrome PMID:25741868|PMID:28492532 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060249 scoliosis ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:11992261|PMID:15121796|PMID:17339163|PMID:17875892|PMID:18241070|PMID:20301557|PMID:21533187|PMID:24033266|PMID:24935154|PMID:25741868|PMID:28492532 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060250 idiopathic scoliosis ISO RGD:731747 D RGD:9068941 20220825 MouseDO 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060260 ptosis ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ptosis PMID:11992261|PMID:14644997|PMID:15539800|PMID:15723289|PMID:15987685|PMID:16358218|PMID:17020470|PMID:17339163|PMID:17361219|PMID:18372317|PMID:19020799|PMID:19737548|PMID:20308328|PMID:21706501|PMID:21901340|PMID:22315187|PMID:22488759|PMID:23584145|PMID:24033266|PMID:24628801|PMID:25585602|PMID:25595571|PMID:25741868|PMID:26467025|PMID:26918529|PMID:28363362|PMID:28492532|PMID:29907801|PMID:30311386|PMID:30410095|PMID:30417923|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32581362 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:731746 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32417439 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060578 Noonan syndrome 1 ISO RGD:731746 D RGD:7240710 20180130 OMIM 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060578 Noonan syndrome 1 ISO RGD:731746 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15211660|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23817572|PMID:23832011|PMID:23917401|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060578 Noonan syndrome 1 ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:25612910|PMID:2564168|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26833328|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29038591|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29493581|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29758562|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31259454|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32719394|PMID:32737134|PMID:32746448|PMID:32794475|PMID:32824488|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:33318624|PMID:33568805|PMID:33619735|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34184824|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060581 Noonan syndrome 3 ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome 3 PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:14974085|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15385933|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15723289|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16467864|PMID:16498234|PMID:16638574|PMID:16733669|PMID:16804314|PMID:16990350|PMID:17020470|PMID:17339163|PMID:17361219|PMID:17497712|PMID:17546245|PMID:17641779|PMID:17661820|PMID:17972951|PMID:18241070|PMID:18286234|PMID:18372317|PMID:18470943|PMID:18505544|PMID:18678287|PMID:18759865|PMID:18854871|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19179468|PMID:19273734|PMID:19582499|PMID:19706403|PMID:19737548|PMID:20112233|PMID:20186801|PMID:20301303|PMID:20301557|PMID:20308328|PMID:2057894|PMID:20578946|PMID:20718194|PMID:20931536|PMID:20954246|PMID:21106241|PMID:21204800|PMID:21321969|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:22058153|PMID:22190897|PMID:22315187|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22847776|PMID:22848035|PMID:23321623|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23756559|PMID:23771920|PMID:23832011|PMID:24030381|PMID:24033266|PMID:24037001|PMID:24150203|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24803665|PMID:24821303|PMID:24931631|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25253770|PMID:25326635|PMID:25337068|PMID:25359717|PMID:25395418|PMID:25585602|PMID:25595571|PMID:25708222|PMID:25724491|PMID:25741868|PMID:25741869|PMID:25862627|PMID:25914815|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26742426|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27276561|PMID:27460089|PMID:27521173|PMID:27626068|PMID:27683039|PMID:27884971|PMID:28363362|PMID:28492532|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30541462|PMID:30692697|PMID:30732632|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32581362|PMID:32901917|PMID:34008892|PMID:34782754 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080548 Noonan syndrome with multiple lentigines 1 ISO RGD:731746 D RGD:7240710 20190320 OMIM 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080548 Noonan syndrome with multiple lentigines 1 ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 1 PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16631468|PMID:16638574|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17935252|PMID:17972951|PMID:18241070|PMID:18253957|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19825837|PMID:19835954|PMID:19864201|PMID:20030748|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21204800|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21677813|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21934682|PMID:22058153|PMID:22190897|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23832011|PMID:24033266|PMID:24037001|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24891296|PMID:24896146|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25263441|PMID:25326635|PMID:25326637|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25381062|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:25708222|PMID:25722345|PMID:25724491|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27038324|PMID:27069254|PMID:27104176 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080548 Noonan syndrome with multiple lentigines 1 ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 1 PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:28051113|PMID:28074573|PMID:28125078|PMID:28135719|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29038591|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29493581|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30732632|PMID:30784236|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31219622|PMID:31259454|PMID:31560489|PMID:31637070|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32581362|PMID:32719394|PMID:32746448|PMID:32824488|PMID:32860008|PMID:32901917|PMID:33091040|PMID:33318624|PMID:34006472|PMID:34008892|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rasopathy | ClinVar Annotator: match by term: rasopathies PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15521065|PMID:15539800|PMID:15604238|PMID:15644411|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19651601|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20577567|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25500235 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rasopathy | ClinVar Annotator: match by term: rasopathies PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26619011|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27153395|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27783593|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28166811|PMID:28363362|PMID:28366775|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29084544|PMID:29146883|PMID:29276006|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29907801|PMID:29988639|PMID:30266093|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30541462|PMID:30577886|PMID:30604644|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31263281|PMID:31560489|PMID:31573083|PMID:31827275|PMID:32164556|PMID:32165824|PMID:32581362|PMID:32627857|PMID:32860008|PMID:32963807|PMID:33091040|PMID:33128510|PMID:34008892|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19651601|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:25595571|PMID:25612910|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27783593|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28166811|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31263281|PMID:31324109|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:34006472|PMID:34008892|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19651601|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23757202|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25500235|PMID:25533962|PMID:25544017 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: RASopathy PMID:25585602|PMID:25595571|PMID:25612910|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27783593|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28166811|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31263281|PMID:31324109|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:34006472|PMID:34008892|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19651601|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23757202|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: RASopathy PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27783593|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28166811|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31263281|PMID:31324109|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32561839|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32794475|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:34006472|PMID:34008892|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15211660|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15521065|PMID:15539800|PMID:15604238|PMID:15644411|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17301821|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19651601|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25802336|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26833328|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27783593|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28363362|PMID:28366775|PMID:28378436|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29038591|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31259454|PMID:31263281|PMID:31324109|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32737134|PMID:32746448|PMID:32794475|PMID:32824488|PMID:32832832|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:33568805|PMID:33619735|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34184824|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15211660|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15521065|PMID:15539800|PMID:15604238|PMID:15644411|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17301821|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19651601|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334666|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25802336|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26223499|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26833328|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27783593|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28363362|PMID:28366775|PMID:28378436|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29038591|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31259454|PMID:31263281|PMID:31324109|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32737134|PMID:32746448|PMID:32794475|PMID:32824488|PMID:32832832|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:33318624|PMID:33568805|PMID:33619735|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34184824|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:731746 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome PMID:15384080|PMID:16358218|PMID:24803665|PMID:25741868|PMID:27993330|PMID:28492532 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0110106 atrial heart septal defect 1 ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ASD II PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:19020799|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0110962 brachydactyly-preaxial hallux varus syndrome ISO RGD:731746 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dominant preaxial brachydactyly with hallux varus and thumb abduction PMID:11704759|PMID:12161469|PMID:12634870|PMID:14961557|PMID:14974085|PMID:15001945|PMID:16263833|PMID:16358218|PMID:16399795|PMID:16631468|PMID:17177198|PMID:17339163|PMID:18562489|PMID:18678287|PMID:19737548|PMID:22781091|PMID:24033266|PMID:25741868|PMID:26918529|PMID:28492532|PMID:32059087 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0111512 metachondromatosis ISO RGD:731746 D RGD:7240710 20180130 OMIM 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0111512 metachondromatosis ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Metachondromatosis PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15385933|PMID:15389709|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16631468|PMID:16638574|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17935252|PMID:17972951|PMID:18241070|PMID:18253957|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18562489|PMID:18678287|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19352411|PMID:19449407|PMID:19509418|PMID:19568997|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19825837|PMID:19835954|PMID:19864201|PMID:20030748|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20577567|PMID:20651068|PMID:20718194|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21204800|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21934682|PMID:22190897|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:23297836|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23813970|PMID:23832011|PMID:24033266|PMID:24037001|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24891296|PMID:24896146|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326637|PMID:25337068|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:25722345|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25917897|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26645620|PMID:26673822|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:28051113|PMID:28074573|PMID:28135719|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29038591|PMID:29146883 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0111512 metachondromatosis ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Metachondromatosis PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29493581|PMID:29555671|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30784236|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31219622|PMID:31560489|PMID:31637070|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32581362|PMID:32719394|PMID:32824488|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33318624|PMID:34006472|PMID:34008892|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0111683 neurofibromatosis-Noonan syndrome ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome PMID:22465605|PMID:28074573|PMID:28492532 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:12717436|PMID:14644997|PMID:15385933|PMID:15710330|PMID:15928039|PMID:16358218|PMID:17972951|PMID:19047918|PMID:19179468|PMID:24033266|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26619011|PMID:27069254|PMID:28098151|PMID:30868567 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:10534 stomach cancer ISO RGD:731746 D RGD:9068941 20201001 RGD DNA:SNPs::rs12229892, rs2301756(human) PMID:27614952|REF_RGD_ID:39128246 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1059 intellectual disability ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:15121796|PMID:17339163|PMID:17875892|PMID:18241070|PMID:24033266|PMID:24451042|PMID:24935154|PMID:25741868|PMID:28492532 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1059 intellectual disability ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild PMID:11992261|PMID:15121796|PMID:17339163|PMID:17875892|PMID:18241070|PMID:20301303|PMID:20301557|PMID:21533187|PMID:24033266|PMID:24451042|PMID:24935154|PMID:25741868|PMID:26833328|PMID:28492532|PMID:34136434 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:10907 microcephaly ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:11704759|PMID:11992261|PMID:12717436|PMID:14644997|PMID:15539800|PMID:15723289|PMID:15928039|PMID:15987685|PMID:16263833|PMID:16358218|PMID:16377799|PMID:17020470|PMID:17339163|PMID:17361219|PMID:18372317|PMID:18470943|PMID:18562489|PMID:19020799|PMID:19737548|PMID:19795160|PMID:20308328|PMID:21706501|PMID:21901340|PMID:22315187|PMID:22488759|PMID:23584145|PMID:24033266|PMID:24628801|PMID:25585602|PMID:25595571|PMID:25741868|PMID:26467025|PMID:26918529|PMID:28363362|PMID:28492532|PMID:29907801|PMID:30311386|PMID:30325180|PMID:30410095|PMID:30417923|PMID:31134136|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32581362 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:11168 anogenital venereal wart ISO RGD:731746 D RGD:9068941 20201001 RGD protein:increased expression:foreskin PMID:18543080|REF_RGD_ID:39128248 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:11983 Prader-Willi syndrome ISO RGD:731746 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:24451042|PMID:25741868|PMID:28492532 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:11992261|PMID:12058348|PMID:12960218|PMID:14644997|PMID:14961557|PMID:15001945|PMID:15121796|PMID:15385933|PMID:15520399|PMID:15539800|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15987685|PMID:16338218|PMID:16358218|PMID:16377799|PMID:16638574|PMID:17020470|PMID:17339163|PMID:17361219|PMID:17935252|PMID:17972951|PMID:18372317|PMID:18373317|PMID:18759865|PMID:18849586|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19737548|PMID:19825837|PMID:19864201|PMID:20301557|PMID:20308328|PMID:20493809|PMID:20535210|PMID:20883402|PMID:21365175|PMID:21533187|PMID:21706501|PMID:21901340|PMID:21910245|PMID:22190897|PMID:22315187|PMID:22411627|PMID:22488759|PMID:22555271|PMID:22585553|PMID:22681964|PMID:23317994|PMID:23457302|PMID:23584145|PMID:23813970|PMID:24033266|PMID:24037001|PMID:24451042|PMID:24628801|PMID:24767283|PMID:24775816|PMID:24935154|PMID:25097206|PMID:25395418|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25741868|PMID:25884655|PMID:25917897|PMID:26337637|PMID:26467025|PMID:26918529|PMID:27069254|PMID:27238887|PMID:27276561|PMID:27484170|PMID:27659786|PMID:28363362|PMID:28492532|PMID:28681392|PMID:29346770|PMID:29493581|PMID:29907801|PMID:30025578|PMID:30311386|PMID:30410095|PMID:30417923|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32581362 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1240 leukemia ISO RGD:731746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15273746 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:12930 dilated cardiomyopathy ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18759865|PMID:21934682|PMID:22923420|PMID:24033266|PMID:24803665|PMID:25500235|PMID:25612910|PMID:25741868|PMID:27153395|PMID:28051113|PMID:28492532 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:13620 patent foramen ovale ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:19020799|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:13832 patent ductus arteriosus ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Patency of the ductus arteriosus PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:19020799|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathic lentiginosis | ClinVar Annotator: match by term: LENTIGINOSIS, CARDIOMYOPATHIC | ClinVar Annotator: match by term: MULTIPLE LENTIGINES SYNDROME | ClinVar Annotator: match by term: Multiple lentigines syndrome | ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16631468|PMID:16638574|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18241070|PMID:18253957|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19825837|PMID:19835954|PMID:19864201|PMID:20030748|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21204800|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21677813|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21934682|PMID:22058153|PMID:22190897|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:23297836|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23832011|PMID:24033266|PMID:24037001|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24891296|PMID:24896146|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25337068|PMID:25359717|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:25708222|PMID:25722345|PMID:25724491|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27259537 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathic lentiginosis | ClinVar Annotator: match by term: LENTIGINOSIS, CARDIOMYOPATHIC | ClinVar Annotator: match by term: MULTIPLE LENTIGINES SYNDROME | ClinVar Annotator: match by term: Multiple lentigines syndrome | ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:28051113|PMID:28074573|PMID:28135719|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29038591|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29493581|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30732632|PMID:30784236|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31219622|PMID:31259454|PMID:31560489|PMID:31637070|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32581362|PMID:32719394|PMID:32746448|PMID:32824488|PMID:32860008|PMID:32901917|PMID:33091040|PMID:33318624|PMID:34006472|PMID:34008892|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1588 thrombocytopenia ISO RGD:731746 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14974085|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15929108|PMID:15956085|PMID:15987685|PMID:16078230|PMID:16124853|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16498234|PMID:17020470|PMID:17143285|PMID:17339163|PMID:17515436|PMID:17546245|PMID:17661820|PMID:18253957|PMID:18331608|PMID:19061217|PMID:19077116|PMID:19133693|PMID:19352411|PMID:19509418|PMID:20301303|PMID:20308328|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22465605|PMID:23297836|PMID:23726368|PMID:24033266|PMID:24072241|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25326637|PMID:25741868|PMID:25912702|PMID:26372199|PMID:26467025|PMID:26645620|PMID:26785492|PMID:26817465|PMID:26918529|PMID:27117572|PMID:27521173|PMID:28135719|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28957739|PMID:28991257|PMID:29214238|PMID:29263817|PMID:29493581|PMID:29848529|PMID:29907801|PMID:30287924|PMID:30294303|PMID:30355600|PMID:30417923|PMID:30604644|PMID:31219622|PMID:31560489|PMID:31637070|PMID:32581362|PMID:32860008|PMID:33091040|PMID:34008892|PMID:4746100 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:162 cancer ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cancer PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15842656|PMID:15928039|PMID:16830086|PMID:18470943|PMID:18678287|PMID:19047918|PMID:19509418|PMID:21930766|PMID:23825065|PMID:24033266|PMID:26619011|PMID:27783593|PMID:28492532 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1686 glaucoma ISO RGD:3447 D RGD:9068941 20201001 RGD protein:increased expression,increased phosphorylation:retina PMID:30341011|REF_RGD_ID:39456090 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1686 glaucoma ISO RGD:731746 D RGD:9068941 20201001 RGD protein:increased phosphorylation:retina PMID:30341011|REF_RGD_ID:39456090 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1686 glaucoma treatment ISO RGD:3447 D RGD:9068941 20201001 RGD PMID:30341011|REF_RGD_ID:39456090 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1712 aortic valve stenosis ISO RGD:731747 D RGD:9068941 20200609 RGD with Egfr mutation PMID:10700187|REF_RGD_ID:734918 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1749 squamous cell carcinoma ISO RGD:731746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:206 hereditary multiple exostoses ISO RGD:731746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21533187 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:2213 hemorrhagic disease ISO RGD:731746 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14974085|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15929108|PMID:15956085|PMID:15987685|PMID:16078230|PMID:16124853|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16498234|PMID:17020470|PMID:17143285|PMID:17339163|PMID:17515436|PMID:17546245|PMID:17661820|PMID:18253957|PMID:18331608|PMID:19061217|PMID:19077116|PMID:19133693|PMID:19352411|PMID:19509418|PMID:20301303|PMID:20308328|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22465605|PMID:23297836|PMID:23726368|PMID:24033266|PMID:24072241|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25326637|PMID:25741868|PMID:25912702|PMID:26372199|PMID:26467025|PMID:26645620|PMID:26785492|PMID:26817465|PMID:26918529|PMID:27117572|PMID:27521173|PMID:28135719|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28957739|PMID:28991257|PMID:29214238|PMID:29263817|PMID:29493581|PMID:29848529|PMID:29907801|PMID:30287924|PMID:30294303|PMID:30355600|PMID:30417923|PMID:30604644|PMID:31219622|PMID:31560489|PMID:31637070|PMID:32581362|PMID:32860008|PMID:33091040|PMID:34008892|PMID:4746100 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:2340 craniosynostosis ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Brachycephaly PMID:11992261|PMID:14644997|PMID:15539800|PMID:15723289|PMID:15987685|PMID:16358218|PMID:17020470|PMID:17339163|PMID:17361219|PMID:18372317|PMID:19020799|PMID:19737548|PMID:20308328|PMID:21706501|PMID:21901340|PMID:22315187|PMID:22488759|PMID:23584145|PMID:24033266|PMID:24628801|PMID:25585602|PMID:25595571|PMID:25741868|PMID:26467025|PMID:26918529|PMID:28363362|PMID:28492532|PMID:29907801|PMID:30311386|PMID:30410095|PMID:30417923|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32581362 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:2602 chondroma ISO RGD:731746 D RGD:9068941 20200609 RGD DNA:deletion, nonsense mutation:exon:c.514_524del11, p.R138X (human) PMID:20577567|REF_RGD_ID:11069623 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:299 adenocarcinoma ISO RGD:731746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3069 malignant astrocytoma ISO RGD:731746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23817572 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3070 high grade glioma ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16518851|PMID:16830086|PMID:17177198|PMID:18470943|PMID:18678287|PMID:19047918|PMID:19509418|PMID:21901340|PMID:21930766|PMID:22190897|PMID:23756559|PMID:23825065|PMID:23832011|PMID:24033266|PMID:25097206|PMID:26619011|PMID:27783593|PMID:28098151|PMID:28492532 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma PMID:26619011|PMID:26822237 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3490 Noonan syndrome ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23813970|PMID:23817572|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23996481|PMID:24030381|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25337068|PMID:25359717|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25708222 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3490 Noonan syndrome ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27460089|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27783593|PMID:27884971|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28135719|PMID:28191889|PMID:28363362|PMID:28378436|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29038591|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29493581|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31057598|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31259454|PMID:31560489|PMID:31573083|PMID:31637070|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32719394|PMID:32737134|PMID:32746448|PMID:32794475|PMID:32824488|PMID:32832832|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:33318624|PMID:33568805|PMID:33619735|PMID:34006472|PMID:34008892|PMID:34143244|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3717 gastric adenocarcinoma ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:26619011|PMID:26822237 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3907 lung squamous cell carcinoma ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16518851|PMID:16830086|PMID:17177198|PMID:18470943|PMID:18678287|PMID:19047918|PMID:19509418|PMID:21901340|PMID:21930766|PMID:22190897|PMID:23756559|PMID:23825065|PMID:23832011|PMID:24033266|PMID:25097206|PMID:26619011|PMID:26822237|PMID:27783593|PMID:28098151|PMID:28492532 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3910 lung adenocarcinoma ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:26619011|PMID:26822237 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:4080 tricuspid valve insufficiency ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: tricuspid valve insufficiency PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:19020799|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:4362 cervical cancer ISO RGD:731746 D RGD:9068941 20201001 RGD protein:increased expression:foreskin PMID:18543080|REF_RGD_ID:39128248 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:4624 Ollier disease ISO RGD:731746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20577567|PMID:21533187 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:540 strabismus ISO RGD:731746 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Strabismus PMID:15985475|PMID:17020470|PMID:17546245|PMID:18470943|PMID:19077116|PMID:20186801|PMID:21590266|PMID:22465605|PMID:22781091|PMID:23624134|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29493581 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia PMID:11992261|PMID:12161469|PMID:15240615|PMID:16032767|PMID:16358218|PMID:16566035|PMID:17020470|PMID:18470943|PMID:18678287|PMID:19020799|PMID:21106241|PMID:21597774|PMID:21784453|PMID:22681964|PMID:23321623|PMID:24033266|PMID:24183200|PMID:24803665|PMID:25741868|PMID:27030275|PMID:28492532|PMID:30266093 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:5688 Werner syndrome ISO RGD:731746 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Werner syndrome PMID:25741868 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:630 genetic disease ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14644997|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15385933|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15834506|PMID:15928039|PMID:15929108|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16078230|PMID:16124853|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16498234|PMID:16638574|PMID:16672235|PMID:16924159|PMID:16990350|PMID:17020470|PMID:17143285|PMID:17339163|PMID:17361219|PMID:17515436|PMID:17546245|PMID:17661820|PMID:17875892|PMID:17935252|PMID:17972951|PMID:18241070|PMID:18253957|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18470943|PMID:18562489|PMID:18678287|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19077116|PMID:19120036|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19352411|PMID:19509418|PMID:19737548|PMID:19795160|PMID:19825837|PMID:19864201|PMID:20112233|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20493809|PMID:20535210|PMID:20883402|PMID:20954246|PMID:20979190|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21533187|PMID:21567923|PMID:21590266|PMID:21706501|PMID:21784453|PMID:21901340|PMID:21910245|PMID:22190897|PMID:22315187|PMID:22411627|PMID:22465605|PMID:22488759|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:23297836|PMID:23317994|PMID:23457302|PMID:23584145|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23813970|PMID:24033266|PMID:24037001|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24451042|PMID:24628801|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24891296|PMID:24935154|PMID:25097206|PMID:25326637|PMID:25395418|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25741868|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25917897|PMID:26337637|PMID:26372199|PMID:26467025|PMID:26607044|PMID:26645620|PMID:26785492|PMID:26817465|PMID:26918529|PMID:27069254|PMID:27117572|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27659786|PMID:28074573|PMID:28135719|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28681392|PMID:28957739|PMID:28991257|PMID:29214238|PMID:29263817|PMID:29346770|PMID:29493581|PMID:29555671|PMID:29696744|PMID:29848529|PMID:29907801|PMID:30025578|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30602027|PMID:30604644|PMID:30784236|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31560489|PMID:31637070|PMID:32164556|PMID:32233106|PMID:32581362|PMID:32719394|PMID:32824488|PMID:32860008|PMID:33091040|PMID:34006472|PMID:34008892|PMID:4746100|PMID:9491886 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:6419 tetralogy of Fallot susceptibility ISO RGD:731746 D RGD:9068941 20200609 RGD DNA:snp:intron:c.757-4333A>G (rs11066320) (human) PMID:22503907|REF_RGD_ID:12743641 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:6536 plasma cell neoplasm ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16518851|PMID:16830086|PMID:17177198|PMID:18470943|PMID:18678287|PMID:19047918|PMID:19509418|PMID:21901340|PMID:21930766|PMID:22190897|PMID:23756559|PMID:23825065|PMID:23832011|PMID:24033266|PMID:25097206|PMID:26619011|PMID:26822237|PMID:27783593|PMID:28098151|PMID:28492532 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:769 neuroblastoma ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15710330|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16518851|PMID:16830086|PMID:17177198|PMID:17972951|PMID:18470943|PMID:18678287|PMID:19047918|PMID:19179468|PMID:19509418|PMID:21901340|PMID:21930766|PMID:22190897|PMID:23756559|PMID:23825065|PMID:23832011|PMID:24033266|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26619011|PMID:27069254|PMID:27783593|PMID:28098151|PMID:28492532|PMID:30868567 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:8469 influenza ISO RGD:731747 D RGD:9068941 20201001 RGD mRNA:increased expression:lung PMID:31782850|REF_RGD_ID:39131288 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:8927 learning disability ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Specific learning disability PMID:11992261|PMID:15121796|PMID:17339163|PMID:17875892|PMID:18241070|PMID:20301557|PMID:21533187|PMID:24033266|PMID:24935154|PMID:25741868|PMID:28492532 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:8929 atrophic gastritis severity ISO RGD:731746 D RGD:9068941 20201001 RGD associated with Helicobacter Infections;DNA:SNP:intron: rs2301756(human) PMID:19589142|REF_RGD_ID:39128247 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:8929 atrophic gastritis susceptibility ISO RGD:731746 D RGD:9068941 20200925 RGD associated with Helicobacter Infections; DNA:SNP:Cds: PMID:17211494|REF_RGD_ID:39128202 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:8929 atrophic gastritis susceptibility ISO RGD:731746 D RGD:9068941 20201001 RGD DNA:SNP:intron:rs2301756 (human) PMID:18712962|REF_RGD_ID:39131286 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:8929 atrophic gastritis susceptibility ISO RGD:731746 D RGD:9068941 20201001 RGD associated with Helicobacter Infections; DNA:SNP: :rs12423190 (human PMID:22788847|REF_RGD_ID:39131289 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:731747 D RGD:9068941 20201001 RGD mRNA:increased expression:lung PMID:31782850|REF_RGD_ID:39131288 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9001049 Staphylococcal Pneumonia severity ISO RGD:731747 D RGD:9068941 20201001 RGD associated with influenza PMID:31782850|REF_RGD_ID:39131288 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9001276 Failure to Thrive ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:19020799|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9001510 Funnel Chest ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:11992261|PMID:14644997|PMID:15539800|PMID:15723289|PMID:15987685|PMID:16358218|PMID:17020470|PMID:17339163|PMID:17361219|PMID:18372317|PMID:19020799|PMID:19737548|PMID:20308328|PMID:21706501|PMID:21901340|PMID:22315187|PMID:22488759|PMID:23584145|PMID:24033266|PMID:24628801|PMID:25585602|PMID:25595571|PMID:25741868|PMID:26467025|PMID:26918529|PMID:28363362|PMID:28492532|PMID:29907801|PMID:30311386|PMID:30410095|PMID:30417923|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32581362 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:12717436|PMID:14644997|PMID:15385933|PMID:15710330|PMID:15928039|PMID:16358218|PMID:17972951|PMID:19047918|PMID:19179468|PMID:24033266|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26619011|PMID:27069254|PMID:28098151|PMID:30868567 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:3447 D RGD:9068941 20200609 RGD with postnatal growth restriction PMID:19491300|REF_RGD_ID:12743586 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9002453 Cafe-au-Lait Spots ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cafe-au-lait spot PMID:11992261|PMID:15121796|PMID:17339163|PMID:17875892|PMID:18241070|PMID:20301557|PMID:21533187|PMID:24033266|PMID:24935154|PMID:25741868|PMID:28492532 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14676626|PMID:15240615|PMID:15273746|PMID:15385933|PMID:15710330|PMID:15928039|PMID:15987685|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16461457|PMID:16533526|PMID:16990350|PMID:17020470|PMID:17972951|PMID:18331608|PMID:18378677|PMID:18470943|PMID:18562489|PMID:19008228|PMID:19047918|PMID:19179468|PMID:19251646|PMID:19795160|PMID:19835954|PMID:20651068|PMID:21365683|PMID:22371576|PMID:22420426|PMID:23321623|PMID:24033266|PMID:24628801|PMID:24718990|PMID:25097206|PMID:25383899|PMID:25395418|PMID:25741868|PMID:26084119|PMID:26242988|PMID:26673822|PMID:27069254|PMID:27276561|PMID:28492532|PMID:30325180|PMID:31134136 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9002854 Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia PMID:11992261|PMID:12058348|PMID:12161596|PMID:14634749|PMID:15121796|PMID:15389709|PMID:15520399|PMID:16053901|PMID:16358218|PMID:16377799|PMID:16638574|PMID:16679933|PMID:17020470|PMID:18372317|PMID:18849586|PMID:19725129|PMID:19768645|PMID:20301557|PMID:20308328|PMID:21339643|PMID:21747628|PMID:22681964|PMID:22822385|PMID:23673659|PMID:24033266|PMID:24401936|PMID:24775816|PMID:24820750|PMID:24935154|PMID:25731833|PMID:25741868|PMID:25917897|PMID:26337637|PMID:26467025|PMID:26918529|PMID:28483241|PMID:28492532|PMID:29276006|PMID:30311386 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9003091 Noonan Like Syndrome ISO RGD:731746 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.D106A, p.F285L (human) PMID:15996221|REF_RGD_ID:11064737 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9003571 Paraproteinemias ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16518851|PMID:16830086|PMID:17177198|PMID:18470943|PMID:18678287|PMID:19047918|PMID:19509418|PMID:21901340|PMID:21930766|PMID:22190897|PMID:23756559|PMID:23825065|PMID:23832011|PMID:24033266|PMID:25097206|PMID:26619011|PMID:26822237|PMID:27783593|PMID:28098151|PMID:28492532 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731746 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:11704759|PMID:11992261|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15723289|PMID:15834506|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:16377799|PMID:18372317|PMID:18470943|PMID:18758896|PMID:19077116|PMID:19568997|PMID:19737548|PMID:20186801|PMID:21407260|PMID:21784453|PMID:22465605|PMID:22488759|PMID:22681964|PMID:23334668|PMID:24033266|PMID:24037001|PMID:24183200|PMID:24754368|PMID:25097206|PMID:25741868|PMID:25742478|PMID:26918529|PMID:28492532|PMID:29146883|PMID:29907801|PMID:30417923|PMID:31560489|PMID:34008892|PMID:9491886 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9004441 Experimental Leukemia ISO RGD:731746 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32417439 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9005141 Ventricular Tachycardia ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9005193 Osteochondroma ISO RGD:731746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20577567 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Right ventricular hypertrophy PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:19020799|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9006182 Carotid Artery Injuries ISO RGD:3447 D RGD:9068941 20201001 RGD protein:increased expression:aorta tunica intima, aorta tunica media PMID:12117720|REF_RGD_ID:39456082 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction PMID:23334666|PMID:25741868|PMID:26223499|PMID:28492532 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14974085|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15929108|PMID:15956085|PMID:15987685|PMID:16078230|PMID:16124853|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16498234|PMID:17020470|PMID:17143285|PMID:17339163|PMID:17515436|PMID:17546245|PMID:17661820|PMID:18253957|PMID:18331608|PMID:19061217|PMID:19077116|PMID:19133693|PMID:19352411|PMID:19509418|PMID:20308328|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22465605|PMID:23297836|PMID:23726368|PMID:24033266|PMID:24628801|PMID:24803665|PMID:25326637|PMID:25741868|PMID:25912702|PMID:26372199|PMID:26467025|PMID:26785492|PMID:26817465|PMID:27117572|PMID:27521173|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28957739|PMID:29493581|PMID:30604644|PMID:32581362|PMID:32860008|PMID:33091040|PMID:34008892|PMID:4746100 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731746 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14974085|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15929108|PMID:15956085|PMID:15987685|PMID:16078230|PMID:16124853|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16498234|PMID:17020470|PMID:17143285|PMID:17339163|PMID:17515436|PMID:17546245|PMID:17661820|PMID:18253957|PMID:18331608|PMID:19061217|PMID:19077116|PMID:19133693|PMID:19352411|PMID:19509418|PMID:20308328|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22465605|PMID:23297836|PMID:23726368|PMID:24033266|PMID:24072241|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25326637|PMID:25741868|PMID:25912702|PMID:26372199|PMID:26467025|PMID:26645620|PMID:26785492|PMID:26817465|PMID:26918529|PMID:27117572|PMID:27521173|PMID:28135719|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28957739|PMID:28991257|PMID:29214238|PMID:29263817|PMID:29493581|PMID:29848529|PMID:29907801|PMID:30287924|PMID:30294303|PMID:30355600|PMID:30417923|PMID:30604644|PMID:31219622|PMID:31560489|PMID:31637070|PMID:32581362|PMID:32860008|PMID:33091040|PMID:34008892|PMID:4746100 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731746 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14974085|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15929108|PMID:15956085|PMID:15987685|PMID:16078230|PMID:16124853|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16498234|PMID:17020470|PMID:17143285|PMID:17339163|PMID:17515436|PMID:17546245|PMID:17661820|PMID:18253957|PMID:18331608|PMID:19061217|PMID:19077116|PMID:19133693|PMID:19352411|PMID:19509418|PMID:20301303|PMID:20308328|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22465605|PMID:23297836|PMID:23726368|PMID:24033266|PMID:24072241|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25326637|PMID:25741868|PMID:25912702|PMID:26372199|PMID:26467025|PMID:26645620|PMID:26785492|PMID:26817465|PMID:26918529|PMID:27117572|PMID:27521173|PMID:28135719|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28957739|PMID:28991257|PMID:29214238|PMID:29263817|PMID:29493581|PMID:29848529|PMID:29907801|PMID:30287924|PMID:30294303|PMID:30355600|PMID:30417923|PMID:30604644|PMID:31219622|PMID:31560489|PMID:31637070|PMID:32581362|PMID:32860008|PMID:33091040|PMID:34008892|PMID:4746100 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9007502 Brain Neoplasms ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain PMID:12717436|PMID:14644997|PMID:15385933|PMID:15710330|PMID:15928039|PMID:16358218|PMID:17972951|PMID:19047918|PMID:19179468|PMID:24033266|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26619011|PMID:27069254|PMID:28098151|PMID:30868567 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9007661 Dwarfism ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14676626|PMID:15240615|PMID:15273746|PMID:15385933|PMID:15710330|PMID:15928039|PMID:15985475|PMID:15987685|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16461457|PMID:16533526|PMID:16990350|PMID:17020470|PMID:17546245|PMID:17972951|PMID:18331608|PMID:18378677|PMID:18470943|PMID:18562489|PMID:19008228|PMID:19047918|PMID:19077116|PMID:19179468|PMID:19251646|PMID:19795160|PMID:19835954|PMID:20186801|PMID:20651068|PMID:21365683|PMID:21590266|PMID:22371576|PMID:22420426|PMID:22465605|PMID:22781091|PMID:23321623|PMID:23624134|PMID:24033266|PMID:24628801|PMID:24718990|PMID:25097206|PMID:25383899|PMID:25395418|PMID:25741868|PMID:26084119|PMID:26242988|PMID:26673822|PMID:27069254|PMID:27276561|PMID:28492532|PMID:29493581|PMID:30325180|PMID:31134136 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9008086 Developmental Disabilities ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:11992261|PMID:14644997|PMID:15539800|PMID:15723289|PMID:15987685|PMID:16358218|PMID:17020470|PMID:17339163|PMID:17361219|PMID:18372317|PMID:19020799|PMID:19737548|PMID:20308328|PMID:21706501|PMID:21901340|PMID:22315187|PMID:22488759|PMID:23584145|PMID:24033266|PMID:24628801|PMID:25585602|PMID:25595571|PMID:25741868|PMID:26467025|PMID:26918529|PMID:28363362|PMID:28492532|PMID:29907801|PMID:30311386|PMID:30410095|PMID:30417923|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32581362 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9008114 Helicobacter Infections susceptibility ISO RGD:731746 D RGD:9068941 20201001 RGD DNA:SNP:intron: rs2301756(human) PMID:19589142|REF_RGD_ID:39128247 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9008386 Hydrops Fetalis ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal edema PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:14644997|PMID:14676626|PMID:15240615|PMID:15273746|PMID:15385933|PMID:15710330|PMID:15928039|PMID:15987685|PMID:16032767|PMID:16358218|PMID:16377799|PMID:16461457|PMID:16533526|PMID:16566035|PMID:16990350|PMID:17020470|PMID:17972951|PMID:18331608|PMID:18378677|PMID:18470943|PMID:18562489|PMID:18678287|PMID:19008228|PMID:19020799|PMID:19047918|PMID:19179468|PMID:19251646|PMID:19835954|PMID:20651068|PMID:21106241|PMID:21365683|PMID:21597774|PMID:21784453|PMID:22371576|PMID:22420426|PMID:22681964|PMID:23321623|PMID:24033266|PMID:24183200|PMID:24628801|PMID:24718990|PMID:24803665|PMID:25097206|PMID:25383899|PMID:25395418|PMID:25741868|PMID:26084119|PMID:26242988|PMID:26673822|PMID:27030275|PMID:27069254|PMID:27276561|PMID:28492532|PMID:30266093 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9008443 Colorectal Neoplasms ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16518851|PMID:16830086|PMID:17177198|PMID:18470943|PMID:18678287|PMID:19047918|PMID:19509418|PMID:21901340|PMID:21930766|PMID:22190897|PMID:23756559|PMID:23825065|PMID:23832011|PMID:24033266|PMID:25097206|PMID:26619011|PMID:26822237|PMID:27783593|PMID:28098151|PMID:28492532 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9119 acute myeloid leukemia ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:12717436|PMID:14644997|PMID:15385933|PMID:15710330|PMID:15928039|PMID:16358218|PMID:17972951|PMID:19047918|PMID:19179468|PMID:24033266|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26619011|PMID:27069254|PMID:28098151|PMID:30868567 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9538 multiple myeloma ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16518851|PMID:16830086|PMID:17177198|PMID:18470943|PMID:18678287|PMID:19047918|PMID:19509418|PMID:21901340|PMID:21930766|PMID:22190897|PMID:23756559|PMID:23825065|PMID:23832011|PMID:24033266|PMID:25097206|PMID:26619011|PMID:26822237|PMID:27783593|PMID:28098151|PMID:28492532 11949981 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:962 neurofibroma ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurofibroma PMID:17052965|PMID:21548061|PMID:24033266|PMID:24451042|PMID:24803665|PMID:25741868|PMID:26556299|PMID:28492532 11949981 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9000109 Haemophilus Infections ISO RGD:731747 D RGD:9068941 20201001 RGD mRNA, protein:increased expression:macrophage, lung: PMID:27330052|REF_RGD_ID:39131287 11950007 RIOK2 RIO kinase 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1323125 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11950007 RIOK2 RIO kinase 2 gene DOID:630 genetic disease ISO RGD:1323125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11950007 RIOK2 RIO kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11950007 RIOK2 RIO kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323125 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:0070082 schizophrenia 6 susceptibility ISO RGD:731515 D RGD:7240710 20230505 OMIM 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:0070355 overactive bladder syndrome treatment ISO RGD:621341 D RGD:9068941 20200609 RGD PMID:24152577|REF_RGD_ID:10449030 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:0080600 COVID-19 ISO RGD:731515 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:10487 Hirschsprung's disease ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22974608 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:10595 Charcot-Marie-Tooth disease treatment ISO RGD:731515 D RGD:9068941 20200609 RGD PMID:25150498|REF_RGD_ID:10449027 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:10652 Alzheimer's disease ISO RGD:731515 D RGD:9068941 20200609 RGD PMID:12528817|REF_RGD_ID:10449002 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:10652 Alzheimer's disease ISO RGD:735609 D RGD:9068941 20200609 RGD PMID:12528817|REF_RGD_ID:10449002 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:731515 D RGD:9068941 20210212 RGD PMID:29295823|REF_RGD_ID:41404730 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:10808 gastric ulcer ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16357062 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:11446 sciatic neuropathy treatment ISO RGD:621341 D RGD:9068941 20200609 RGD PMID:20957456|REF_RGD_ID:10449012 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:11612 polycystic ovary syndrome ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:11832 visual epilepsy ISO RGD:621341 D RGD:9068941 20200609 RGD PMID:22158510|REF_RGD_ID:10449024 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:1307 dementia treatment ISO RGD:731515 D RGD:9068941 20200609 RGD PMID:21473886|REF_RGD_ID:10054040 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:14069 cerebral malaria ISO RGD:735609 D RGD:9068941 20201001 RGD mRNA, protein:increased expression:cerebral cortex (mouse) PMID:29636063|REF_RGD_ID:39456084 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:14069 cerebral malaria treatment ISO RGD:731515 D RGD:9068941 20201002 RGD human protein in a mouse model PMID:24433482|REF_RGD_ID:39456102 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:1470 major depressive disorder ISO RGD:731515 D RGD:9068941 20210212 RGD mRNA:increased expression:prefrontal cortex PMID:29295823|REF_RGD_ID:41404730 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:2394 ovarian cancer treatment ISO RGD:731515 D RGD:9068941 20201002 RGD mRNA, protein:increased expression:ovary, fallopian tube, peritoneum (human) PMID:27998236|REF_RGD_ID:39456103 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:2468 psychotic disorder no_association ISO RGD:731515 D RGD:9068941 20200609 RGD associated with Alzheimer Disease;DNA:missense mutation, SNP:cds, enhancer: (rs3924999, rs35753505) (human) PMID:20182055|REF_RGD_ID:10449000 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:2468 psychotic disorder susceptibility ISO RGD:731515 D RGD:9068941 20200609 RGD associated with Alzheimer's disease;DNA:missense mutation, haplotype:cds: (rs3924999) (human) PMID:16082692|REF_RGD_ID:10449035 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:2476 hereditary spastic paraplegia ISO RGD:731515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:2773 contact dermatitis ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:3178 skin papilloma ISO RGD:731515 D RGD:9068941 20201001 RGD DNA:hypermethylation: PMID:31892232|REF_RGD_ID:39456089 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:3312 bipolar disorder ISO RGD:731515 D RGD:9068941 20201001 RGD DNA:SNP:enhancer: (rs35753505) PMID:18585932|REF_RGD_ID:39131291 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:731515 D RGD:9068941 20200609 RGD PMID:20691195|REF_RGD_ID:10449015 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:399 tuberculosis susceptibility ISO RGD:731515 D RGD:9068941 20201001 RGD DNA:SNP, haplotype: (rs16879814) PMID:25919455|REF_RGD_ID:39456091 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:480 movement disease ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22226049 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:5419 schizophrenia ISO RGD:621341 D RGD:9068941 20210423 RGD protein:increased expression:prefrontal cortex, hippocampus PMID:20467458|REF_RGD_ID:126790484 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:5419 schizophrenia ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12145742|PMID:17333138|PMID:17460065|PMID:17905522|PMID:20561508|PMID:20582876|PMID:20701826 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:5419 schizophrenia ISO RGD:735609 D RGD:9068941 20220825 MouseDO OMIM:181500 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:571 median neuropathy ISO RGD:621341 D RGD:9068941 20200609 RGD PMID:19296522|REF_RGD_ID:10449020 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:5844 myocardial infarction treatment ISO RGD:731515 D RGD:9068941 20200609 RGD PMID:24200746|REF_RGD_ID:10449026 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:6000 congestive heart failure ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19801490 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:630 genetic disease ISO RGD:731515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:670 amphetamine abuse ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:676 juvenile rheumatoid arthritis ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:684 hepatocellular carcinoma ISO RGD:731515 D RGD:9068941 20201002 RGD mRNA:increased expression:liver (human) PMID:27514687|REF_RGD_ID:39456110 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:731515 D RGD:9068941 20201002 RGD associated with hepatitis C;mRNA:altered expression:liver (human PMID:17393520|REF_RGD_ID:39456104 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:8469 influenza ISO RGD:735609 D RGD:9068941 20201001 RGD neurotropic influenza A in Tap1-/- strain;mRNA (type III):decreased expression:prefrontal cortex (mouse) PMID:19362585|REF_RGD_ID:39456087 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:731515 D RGD:9068941 20220421 RGD PMID:28756200|REF_RGD_ID:151893490 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:9000469 Viral Myocarditis ISO RGD:735609 D RGD:9068941 20201001 RGD associated with Coxsackievirus Infections;protein:increased expression:heart (mouse) PMID:31396490|REF_RGD_ID:39131284 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:9000641 Pain ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561508 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:9002211 Hyperalgesia ISO RGD:621341 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:22212401|REF_RGD_ID:10449019 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:9002371 Cardiotoxicity ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29305325 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:9002514 Neointima ISO RGD:621341 D RGD:9068941 20200609 RGD PMID:17438359|REF_RGD_ID:2289992 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19617202 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:9005172 Lung Neoplasms ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28604730 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:621341 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expresssion:left ventricle myocardium PMID:22285193|REF_RGD_ID:10449013 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19617202 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:9007956 Febrile Seizures ISO RGD:731515 D RGD:9068941 20201002 RGD associated with influenza;mRNA:increased expression:blood (human) PMID:16690933|REF_RGD_ID:39456106 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:9008939 Breast Neoplasms ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19617202 11950021 LOC100973863 pro-neuregulin-1, membrane-bound isoform gene DOID:9743 diabetic neuropathy treatment ISO RGD:621341 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24288572|REF_RGD_ID:10053667 11950065 PRR29 proline rich 29 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1603374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 11950065 PRR29 proline rich 29 gene DOID:630 genetic disease ISO RGD:1603374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11950089 TAPT1 transmembrane anterior posterior transformation 1 gene DOID:0050777 Joubert syndrome ISO RGD:1605561 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11950089 TAPT1 transmembrane anterior posterior transformation 1 gene DOID:630 genetic disease ISO RGD:1605561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11950089 TAPT1 transmembrane anterior posterior transformation 1 gene DOID:9000260 OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE ISO RGD:1605561 D RGD:7240710 20190315 OMIM 11950089 TAPT1 transmembrane anterior posterior transformation 1 gene DOID:9000260 OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE ISO RGD:1605561 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type PMID:25741868|PMID:26365339|PMID:28492532 11950110 SCAMP4 secretory carrier membrane protein 4 gene DOID:0081099 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies ISO RGD:1345872 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability-strabismus syndrome PMID:23620220|PMID:25558065|PMID:25741868|PMID:26842963|PMID:29796286|PMID:30296593|PMID:32214227|PMID:32860008 11950110 SCAMP4 secretory carrier membrane protein 4 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1345872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 11950110 SCAMP4 secretory carrier membrane protein 4 gene DOID:1059 intellectual disability ISO RGD:1345872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11950110 SCAMP4 secretory carrier membrane protein 4 gene DOID:10907 microcephaly ISO RGD:1345872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11950110 SCAMP4 secretory carrier membrane protein 4 gene DOID:5339 cyclic hematopoiesis ISO RGD:1345872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11950110 SCAMP4 secretory carrier membrane protein 4 gene DOID:630 genetic disease ISO RGD:1345872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11950110 SCAMP4 secretory carrier membrane protein 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11950120 PRR19 proline rich 19 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1604489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11950120 PRR19 proline rich 19 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1604489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11950120 PRR19 proline rich 19 gene DOID:2340 craniosynostosis ISO RGD:1604489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11950120 PRR19 proline rich 19 gene DOID:5419 schizophrenia ISO RGD:1604489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11950120 PRR19 proline rich 19 gene DOID:630 genetic disease ISO RGD:1604489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11950120 PRR19 proline rich 19 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1604489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11950120 PRR19 proline rich 19 gene DOID:9269 maple syrup urine disease ISO RGD:1604489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11950148 RAE1 ribonucleic acid export 1 gene DOID:630 genetic disease ISO RGD:1323051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11950182 ZNF772 zinc finger protein 772 gene DOID:10283 prostate cancer ISO RGD:1606077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11950182 ZNF772 zinc finger protein 772 gene DOID:630 genetic disease ISO RGD:1606077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11950202 CCDC122 coiled-coil domain containing 122 gene DOID:1024 leprosy ISO RGD:1602063 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 PMID:25741868 11950202 CCDC122 coiled-coil domain containing 122 gene DOID:630 genetic disease ISO RGD:1602063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11950202 CCDC122 coiled-coil domain containing 122 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1602063 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: JUVENILE ARTHRITIS PMID:25741868 11950213 PIP5K1B phosphatidylinositol-4-phosphate 5-kinase type 1 beta gene DOID:630 genetic disease ISO RGD:1322093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11950247 FBXL12 F-box and leucine rich repeat protein 12 gene DOID:12849 autistic disorder ISO RGD:1313605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11950247 FBXL12 F-box and leucine rich repeat protein 12 gene DOID:630 genetic disease ISO RGD:1313605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11950268 TMEM41A transmembrane protein 41A gene DOID:0111546 Currarino syndrome ISO RGD:1352042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11950268 TMEM41A transmembrane protein 41A gene DOID:630 genetic disease ISO RGD:1352042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11950286 REG4 regenerating family member 4 gene DOID:0050722 PHGDH deficiency ISO RGD:1352664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:28492532 11950286 REG4 regenerating family member 4 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:1352664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 11950286 REG4 regenerating family member 4 gene DOID:630 genetic disease ISO RGD:1352664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11950286 REG4 regenerating family member 4 gene DOID:9000217 Stomach Neoplasms ISO RGD:1352664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17237819 11950305 POC5 POC5 centriolar protein gene DOID:0060249 scoliosis ISO RGD:1605874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25642776|PMID:25741868|PMID:28492532 11950305 POC5 POC5 centriolar protein gene DOID:10584 retinitis pigmentosa ISO RGD:1605874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:29272404 11950305 POC5 POC5 centriolar protein gene DOID:3323 Sandhoff disease ISO RGD:1605874 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 11950305 POC5 POC5 centriolar protein gene DOID:630 genetic disease ISO RGD:1605874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11950305 POC5 POC5 centriolar protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11950328 SIPA1L3 signal induced proliferation associated 1 like 3 gene DOID:0110262 cataract 45 ISO RGD:1322892 D RGD:7240710 20190315 OMIM 11950328 SIPA1L3 signal induced proliferation associated 1 like 3 gene DOID:0110262 cataract 45 ISO RGD:1322892 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cataract 45 PMID:25741868|PMID:25804400|PMID:28492532 11950328 SIPA1L3 signal induced proliferation associated 1 like 3 gene DOID:630 genetic disease ISO RGD:1322892 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11950360 METTL14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:0050700 cardiomyopathy ISO RGD:1605646 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34648132 11950360 METTL14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:630 genetic disease ISO RGD:1605646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11950360 METTL14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:9000197 Edema ISO RGD:1605646 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34648132 11950360 METTL14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1605646 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34648132 11950360 METTL14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:9002371 Cardiotoxicity ISO RGD:1605646 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34648132 11950360 METTL14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11950360 METTL14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:9005749 Necrosis ISO RGD:1605646 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34648132 11950360 METTL14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:9007692 Insulin Resistance ISO RGD:1605646 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35226250 11950360 METTL14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:9007964 Arsenic Poisoning ISO RGD:1605646 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35226250 11950360 METTL14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:9538 multiple myeloma ISO RGD:1605646 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038059 11950375 PDLIM5 PDZ and LIM domain 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:1553828 D RGD:9068941 20220825 MouseDO 11950375 PDLIM5 PDZ and LIM domain 5 gene DOID:630 genetic disease ISO RGD:1344700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11950375 PDLIM5 PDZ and LIM domain 5 gene DOID:8778 Crohn's disease ISO RGD:1344700 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 11950375 PDLIM5 PDZ and LIM domain 5 gene DOID:9007102 Myocardial Ischemia ISO RGD:1344700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11950375 PDLIM5 PDZ and LIM domain 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11950418 PCDHB12 protocadherin beta 12 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1350553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11950418 PCDHB12 protocadherin beta 12 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350553 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11950418 PCDHB12 protocadherin beta 12 gene DOID:630 genetic disease ISO RGD:1350553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11950418 PCDHB12 protocadherin beta 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11950418 PCDHB12 protocadherin beta 12 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350553 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11950423 RTL4 retrotransposon Gag like 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11950423 RTL4 retrotransposon Gag like 4 gene DOID:12849 autistic disorder ISO RGD:1603494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11950423 RTL4 retrotransposon Gag like 4 gene DOID:5419 schizophrenia ISO RGD:1603494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11950423 RTL4 retrotransposon Gag like 4 gene DOID:630 genetic disease ISO RGD:1603494 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11950428 PTPN14 protein tyrosine phosphatase non-receptor type 14 gene DOID:1540 parathyroid carcinoma ISO RGD:1317339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11950428 PTPN14 protein tyrosine phosphatase non-receptor type 14 gene DOID:2513 basal cell carcinoma ISO RGD:1317339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 11950428 PTPN14 protein tyrosine phosphatase non-receptor type 14 gene DOID:630 genetic disease ISO RGD:1317339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11950428 PTPN14 protein tyrosine phosphatase non-receptor type 14 gene DOID:769 neuroblastoma ISO RGD:1317339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 11950428 PTPN14 protein tyrosine phosphatase non-receptor type 14 gene DOID:9002801 Recurrence ISO RGD:1317339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 11950428 PTPN14 protein tyrosine phosphatase non-receptor type 14 gene DOID:9007154 Choanal Atresia and Lymphedema ISO RGD:1317339 D RGD:7240710 20180130 OMIM 11950428 PTPN14 protein tyrosine phosphatase non-receptor type 14 gene DOID:9007154 Choanal Atresia and Lymphedema ISO RGD:1317339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Choanal atresia and lymphedema PMID:20826270|PMID:25741868 11950428 PTPN14 protein tyrosine phosphatase non-receptor type 14 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1317339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 11950428 PTPN14 protein tyrosine phosphatase non-receptor type 14 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11950455 HSPA12A heat shock protein family A (Hsp70) member 12A gene DOID:303 substance-related disorder ISO RGD:1313610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11950455 HSPA12A heat shock protein family A (Hsp70) member 12A gene DOID:630 genetic disease ISO RGD:1313610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11950479 BTNL2 butyrophilin like 2 gene DOID:0050553 JMP syndrome ISO RGD:1353557 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11950479 BTNL2 butyrophilin like 2 gene DOID:10322 berylliosis ISO RGD:1353557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17927685 11950479 BTNL2 butyrophilin like 2 gene DOID:10322 berylliosis susceptibility ISO RGD:1353557 D RGD:9068941 20200609 RGD DNA:SNP: :rs3117099(human) PMID:17927685|REF_RGD_ID:9685029 11950479 BTNL2 butyrophilin like 2 gene DOID:11335 sarcoidosis ISO RGD:1353557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sarcoidosis, susceptibility to, 2 PMID:15735647 11950479 BTNL2 butyrophilin like 2 gene DOID:11335 sarcoidosis susceptibility ISO RGD:1353557 D RGD:7240710 20190502 OMIM 11950479 BTNL2 butyrophilin like 2 gene DOID:12361 Graves' disease onset ISO RGD:1353557 D RGD:9068941 20200609 RGD DNA:SNP: :rs17577980(human) PMID:24684463|REF_RGD_ID:9685042 11950479 BTNL2 butyrophilin like 2 gene DOID:13378 Kawasaki disease susceptibility ISO RGD:1353557 D RGD:9068941 20200609 RGD DNA:SNP: :rs 1555115(human) PMID:19882345|REF_RGD_ID:9685030 11950479 BTNL2 butyrophilin like 2 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1353557 D RGD:9068941 20200609 RGD associated with Mucocutaneous Lymph Node Syndrome; DNA:SNP: :rs 2395158(human) PMID:19882345|REF_RGD_ID:9685030 11950479 BTNL2 butyrophilin like 2 gene DOID:399 tuberculosis no_association ISO RGD:1353557 D RGD:9068941 20200609 RGD DNA:SNPs,haplotypes: : PMID:17347014|REF_RGD_ID:9685036 11950479 BTNL2 butyrophilin like 2 gene DOID:399 tuberculosis susceptibility ISO RGD:1353557 D RGD:9068941 20200609 RGD DNA:SNPs,haplotypes: : rs3763313, rs9268494, rs9268492(human) PMID:20176143|REF_RGD_ID:9685035 11950479 BTNL2 butyrophilin like 2 gene DOID:630 genetic disease ISO RGD:1353557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11950479 BTNL2 butyrophilin like 2 gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1353557 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:23364395|REF_RGD_ID:9685033 11950479 BTNL2 butyrophilin like 2 gene DOID:8577 ulcerative colitis susceptibility ISO RGD:1353557 D RGD:9068941 20200609 RGD DNA:SNPs: : rs2294881,rs9268480,rs2076523(human) PMID:19659809|REF_RGD_ID:9685032 11950486 ERI2 ERI1 exoribonuclease family member 2 gene DOID:0080600 COVID-19 ISO RGD:1605306 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11950486 ERI2 ERI1 exoribonuclease family member 2 gene DOID:630 genetic disease ISO RGD:1605306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11950517 CIMIP3 ciliary microtubule inner protein 3 gene DOID:0080314 cone-rod dystrophy 14 ISO RGD:1318644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy 3 11950517 CIMIP3 ciliary microtubule inner protein 3 gene DOID:9002525 Hereditary Eye Diseases ISO RGD:1318644 D RGD:9068941 20200709 RGD autosomal dominant cone dystrophy 3, OMIM:602093 DNA:point mutation:exon:A319G -> amino acid Y99C PMID:9425234|REF_RGD_ID:1599353 11950563 TTC17 tetratricopeptide repeat domain 17 gene DOID:1059 intellectual disability ISO RGD:1313426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11950563 TTC17 tetratricopeptide repeat domain 17 gene DOID:630 genetic disease ISO RGD:1313426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11950589 SPOCD1 SPOC domain containing 1 gene DOID:630 genetic disease ISO RGD:1345460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11950620 ISYNA1 inositol-3-phosphate synthase 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1605077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11950620 ISYNA1 inositol-3-phosphate synthase 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1605077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11950620 ISYNA1 inositol-3-phosphate synthase 1 gene DOID:630 genetic disease ISO RGD:1605077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11950620 ISYNA1 inositol-3-phosphate synthase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11950620 ISYNA1 inositol-3-phosphate synthase 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1605077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11950620 ISYNA1 inositol-3-phosphate synthase 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1605077 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11950636 LMTK3 lemur tyrosine kinase 3 gene DOID:1826 epilepsy ISO RGD:1351306 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11950636 LMTK3 lemur tyrosine kinase 3 gene DOID:630 genetic disease ISO RGD:1351306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11950658 CCL17 C-C motif chemokine ligand 17 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1349365 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11950658 CCL17 C-C motif chemokine ligand 17 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1349365 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11950658 CCL17 C-C motif chemokine ligand 17 gene DOID:11335 sarcoidosis ISO RGD:1349365 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17949965|REF_RGD_ID:4145494 11950658 CCL17 C-C motif chemokine ligand 17 gene DOID:1205 allergic disease ISO RGD:1349365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11950658 CCL17 C-C motif chemokine ligand 17 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1349365 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17641031|REF_RGD_ID:4145495 11950658 CCL17 C-C motif chemokine ligand 17 gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:1349365 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:17898016|REF_RGD_ID:4145612 11950658 CCL17 C-C motif chemokine ligand 17 gene DOID:1485 cystic fibrosis ISO RGD:1349365 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:neutrophil PMID:18026571|REF_RGD_ID:4145491 11950658 CCL17 C-C motif chemokine ligand 17 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1349365 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11950658 CCL17 C-C motif chemokine ligand 17 gene DOID:2799 bronchiolitis obliterans ISO RGD:1349365 D RGD:9068941 20200609 RGD PMID:18785972|REF_RGD_ID:4145604 11950658 CCL17 C-C motif chemokine ligand 17 gene DOID:2841 asthma ISO RGD:1349365 D RGD:9068941 20200609 RGD PMID:20237293|REF_RGD_ID:4145486 11950658 CCL17 C-C motif chemokine ligand 17 gene DOID:2841 asthma ISO RGD:619924 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15993846|REF_RGD_ID:2306304 11950658 CCL17 C-C motif chemokine ligand 17 gene DOID:2841 asthma ISO RGD:733477 D RGD:9068941 20200609 RGD PMID:11160256|PMID:15947487|REF_RGD_ID:4145513|REF_RGD_ID:4145603 11950658 CCL17 C-C motif chemokine ligand 17 gene DOID:2841 asthma ISO RGD:733477 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:20074456|REF_RGD_ID:4145487 11950658 CCL17 C-C motif chemokine ligand 17 gene DOID:3042 allergic contact dermatitis ISO RGD:733477 D RGD:9068941 20200609 RGD PMID:15491423|REF_RGD_ID:1626251 11950658 CCL17 C-C motif chemokine ligand 17 gene DOID:3082 interstitial lung disease ISO RGD:1349365 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18276722|REF_RGD_ID:4145606 11950658 CCL17 C-C motif chemokine ligand 17 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1349365 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion PMID:18684970|REF_RGD_ID:4145489 11950658 CCL17 C-C motif chemokine ligand 17 gene DOID:3310 atopic dermatitis ISO RGD:1349365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 11950658 CCL17 C-C motif chemokine ligand 17 gene DOID:3770 pulmonary fibrosis ISO RGD:1349365 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:19715610|REF_RGD_ID:4145488 11950658 CCL17 C-C motif chemokine ligand 17 gene DOID:3770 pulmonary fibrosis ISO RGD:619924 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15993846|REF_RGD_ID:2306304 11950658 CCL17 C-C motif chemokine ligand 17 gene DOID:4483 rhinitis ISO RGD:1349365 D RGD:9068941 20200609 RGD protein:increased expression:blood, mononuclear cell PMID:17517104|REF_RGD_ID:4145498 11950658 CCL17 C-C motif chemokine ligand 17 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:619924 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:20071465|REF_RGD_ID:4145614 11950658 CCL17 C-C motif chemokine ligand 17 gene DOID:552 pneumonia ISO RGD:1349365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11950658 CCL17 C-C motif chemokine ligand 17 gene DOID:552 pneumonia ISO RGD:619924 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15993846|REF_RGD_ID:2306304 11950658 CCL17 C-C motif chemokine ligand 17 gene DOID:630 genetic disease ISO RGD:1349365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11950658 CCL17 C-C motif chemokine ligand 17 gene DOID:9001371 Eosinophilia severity ISO RGD:1349365 D RGD:9068941 20200609 RGD associated with Lymphoma, T-Cell PMID:18395252|REF_RGD_ID:11354898 11950658 CCL17 C-C motif chemokine ligand 17 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:733477 D RGD:9068941 20200609 RGD PMID:15466387|REF_RGD_ID:4145515 11950658 CCL17 C-C motif chemokine ligand 17 gene DOID:9007417 Pseudomonas Infections ISO RGD:1349365 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:16387607|REF_RGD_ID:4145500 11950658 CCL17 C-C motif chemokine ligand 17 gene DOID:9008604 Radiation Pneumonitis ISO RGD:619924 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung, alveolar macrophage PMID:15293604|REF_RGD_ID:4145517 11950658 CCL17 C-C motif chemokine ligand 17 gene DOID:9498 pulmonary eosinophilia ISO RGD:1349365 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:11956056|REF_RGD_ID:4145602 11950670 LOC100979149 hemoglobin subunit gamma-2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1351638 D RGD:7240710 20200610 OMIM 11950670 LOC100979149 hemoglobin subunit gamma-2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1351638 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin | ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:10335983|PMID:11822023|PMID:1698280|PMID:18443038|PMID:18667698|PMID:21057501|PMID:2432426|PMID:2441598|PMID:2798417|PMID:6205403|PMID:6208955|PMID:7687855 11950670 LOC100979149 hemoglobin subunit gamma-2 gene DOID:10923 sickle cell anemia severity ISO RGD:1351638 D RGD:9068941 20200611 RGD sickle cell anemia with hereditary persistence of fetal hemoglobin, OMIM:141749 DNA:point_mutation:promoter:-158C>T, decreases the severity of the sickle cell disease which results from the presence of the Hemoglobin S allele PMID:2432426|REF_RGD_ID:1600594 11950670 LOC100979149 hemoglobin subunit gamma-2 gene DOID:3021 acute kidney failure ISO RGD:1351638 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:562503|PMID:851170 11950670 LOC100979149 hemoglobin subunit gamma-2 gene DOID:630 genetic disease ISO RGD:1351638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11950670 LOC100979149 hemoglobin subunit gamma-2 gene DOID:9000781 Cyanosis ISO RGD:1351638 D RGD:9068941 20200611 RGD DNA:point_mutation:CDS:amino acid Phe41Ser PMID:7741137|REF_RGD_ID:1600598 11950670 LOC100979149 hemoglobin subunit gamma-2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351638 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 11950670 LOC100979149 hemoglobin subunit gamma-2 gene DOID:9006812 Transient Neonatal Cyanosis ISO RGD:1351638 D RGD:7240710 20200610 OMIM 11950670 LOC100979149 hemoglobin subunit gamma-2 gene DOID:9006812 Transient Neonatal Cyanosis ISO RGD:1351638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cyanosis, transient neonatal PMID:12603090|PMID:19065339|PMID:21561349|PMID:22935660|PMID:2470017|PMID:2470018|PMID:2483933|PMID:6158500|PMID:7741137|PMID:8811323 11950670 LOC100979149 hemoglobin subunit gamma-2 gene DOID:9008760 Oliguria ISO RGD:1351638 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:851170 11950676 ELAVL3 ELAV like RNA binding protein 3 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1343972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11950676 ELAVL3 ELAV like RNA binding protein 3 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1343972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11950676 ELAVL3 ELAV like RNA binding protein 3 gene DOID:0111254 glutaric acidemia I ISO RGD:1343972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11950676 ELAVL3 ELAV like RNA binding protein 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1343972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11950676 ELAVL3 ELAV like RNA binding protein 3 gene DOID:3413 alpha-mannosidosis ISO RGD:1343972 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11950676 ELAVL3 ELAV like RNA binding protein 3 gene DOID:630 genetic disease ISO RGD:1343972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11950687 ADARB1 adenosine deaminase RNA specific B1 gene DOID:0050888 syndromic intellectual disability ISO RGD:732582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:32220291 11950687 ADARB1 adenosine deaminase RNA specific B1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:732582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11950687 ADARB1 adenosine deaminase RNA specific B1 gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:732582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 11950687 ADARB1 adenosine deaminase RNA specific B1 gene DOID:0110266 cataract 9 multiple types ISO RGD:732582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11950687 ADARB1 adenosine deaminase RNA specific B1 gene DOID:10907 microcephaly ISO RGD:732582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11950687 ADARB1 adenosine deaminase RNA specific B1 gene DOID:11612 polycystic ovary syndrome ISO RGD:732582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11950687 ADARB1 adenosine deaminase RNA specific B1 gene DOID:11832 visual epilepsy ISO RGD:10082 D RGD:9068941 20200609 RGD PMID:10894545|REF_RGD_ID:1300255 11950687 ADARB1 adenosine deaminase RNA specific B1 gene DOID:12849 autistic disorder ISO RGD:732582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11950687 ADARB1 adenosine deaminase RNA specific B1 gene DOID:224 transient cerebral ischemia ISO RGD:2033 D RGD:9068941 20200609 RGD PMID:16504947|REF_RGD_ID:10755337 11950687 ADARB1 adenosine deaminase RNA specific B1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:10082 D RGD:9068941 20220825 MouseDO 11950687 ADARB1 adenosine deaminase RNA specific B1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732582 D RGD:9068941 20200609 RGD PMID:20372915|REF_RGD_ID:10755336 11950687 ADARB1 adenosine deaminase RNA specific B1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732582 D RGD:9068941 20200609 RGD mRNA:decreased expression:motor neuron: PMID:22226999|REF_RGD_ID:13432092 11950687 ADARB1 adenosine deaminase RNA specific B1 gene DOID:630 genetic disease ISO RGD:732582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11950687 ADARB1 adenosine deaminase RNA specific B1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:732582 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11950687 ADARB1 adenosine deaminase RNA specific B1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2033 D RGD:9068941 20200609 RGD PMID:20456005|REF_RGD_ID:10755338 11950687 ADARB1 adenosine deaminase RNA specific B1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11950687 ADARB1 adenosine deaminase RNA specific B1 gene DOID:9008601 Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures ISO RGD:732582 D RGD:7240710 20200617 OMIM 11950687 ADARB1 adenosine deaminase RNA specific B1 gene DOID:9008601 Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures ISO RGD:732582 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures PMID:25741868|PMID:32220291|PMID:32719099 11950687 ADARB1 adenosine deaminase RNA specific B1 gene DOID:9263 homocystinuria ISO RGD:732582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11950687 ADARB1 adenosine deaminase RNA specific B1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:732582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11950687 ADARB1 adenosine deaminase RNA specific B1 gene DOID:9970 obesity ISO RGD:2033 D RGD:9068941 20200609 RGD associated with Hyperphagia PMID:17567573|REF_RGD_ID:10450894 11950729 PPP2R5D protein phosphatase 2 regulatory subunit B'delta gene DOID:0050444 infantile Refsum disease ISO RGD:1315410 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11950729 PPP2R5D protein phosphatase 2 regulatory subunit B'delta gene DOID:0070065 autosomal dominant intellectual developmental disorder 35 ISO RGD:1315410 D RGD:7240710 20180130 OMIM 11950729 PPP2R5D protein phosphatase 2 regulatory subunit B'delta gene DOID:0070065 autosomal dominant intellectual developmental disorder 35 ISO RGD:1315410 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 35 | ClinVar Annotator: match by term: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome PMID:18414213|PMID:19344873|PMID:24896178|PMID:25533962|PMID:25741868|PMID:25741882|PMID:25972378|PMID:26168268|PMID:26576547|PMID:27350047|PMID:28191890|PMID:28492532|PMID:28554332|PMID:28867141|PMID:29296277|PMID:30676711|PMID:32005694|PMID:32074998|PMID:32371413|PMID:32743835|PMID:33098144|PMID:33482199|PMID:33628804|PMID:33727758|PMID:34490615|PMID:34906502|PMID:35887114 11950729 PPP2R5D protein phosphatase 2 regulatory subunit B'delta gene DOID:1059 intellectual disability ISO RGD:1315410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18414213|PMID:25533962|PMID:25741868|PMID:25741882|PMID:25972378|PMID:26168268|PMID:28191890|PMID:28492532|PMID:28554332|PMID:29296277|PMID:30676711|PMID:32074998|PMID:33098144|PMID:34906502 11950729 PPP2R5D protein phosphatase 2 regulatory subunit B'delta gene DOID:630 genetic disease ISO RGD:1315410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:19344873|PMID:25533962|PMID:25741868|PMID:25741882|PMID:25972378|PMID:26168268|PMID:26576547|PMID:27350047|PMID:28191890|PMID:28492532|PMID:28554332|PMID:28867141|PMID:29296277|PMID:30676711|PMID:32005694|PMID:32074998|PMID:32371413|PMID:32743835|PMID:33482199|PMID:33727758|PMID:34490615|PMID:35887114 11950729 PPP2R5D protein phosphatase 2 regulatory subunit B'delta gene DOID:680 tauopathy ISO RGD:1315411 D RGD:9068941 20200609 RGD PMID:21482799|REF_RGD_ID:13515115 11950729 PPP2R5D protein phosphatase 2 regulatory subunit B'delta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315410 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26168268|PMID:27350047|PMID:32074998 11950729 PPP2R5D protein phosphatase 2 regulatory subunit B'delta gene DOID:9008086 Developmental Disabilities ISO RGD:1315410 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:18414213|PMID:25533962|PMID:25741868|PMID:25741882|PMID:25972378|PMID:26168268|PMID:28191890|PMID:28492532|PMID:28554332|PMID:29296277|PMID:30676711|PMID:32074998 11950729 PPP2R5D protein phosphatase 2 regulatory subunit B'delta gene DOID:905 Zellweger syndrome ISO RGD:1315410 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11950729 PPP2R5D protein phosphatase 2 regulatory subunit B'delta gene DOID:936 brain disease ISO RGD:1315410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868 11950749 RETNLB resistin like beta gene DOID:630 genetic disease ISO RGD:1345045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11950773 RPGRIP1 RPGR interacting protein 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:1321922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:11528500|PMID:16272259|PMID:23105016|PMID:25741868|PMID:28492532|PMID:30072743 11950773 RPGRIP1 RPGR interacting protein 1 gene DOID:0050795 cone dystrophy ISO RGD:1321922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:25741868|PMID:28492532 11950773 RPGRIP1 RPGR interacting protein 1 gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:1321922 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:11283794|PMID:11528500|PMID:12920076|PMID:16123401|PMID:16199547|PMID:16374347|PMID:17576681|PMID:20301475|PMID:21224891|PMID:21857984|PMID:22277662|PMID:23105016|PMID:25741868|PMID:27884173|PMID:28041643|PMID:28492532|PMID:30576320|PMID:32865313|PMID:9536098 11950773 RPGRIP1 RPGR interacting protein 1 gene DOID:0110329 Leber congenital amaurosis 6 ISO RGD:1321922 D RGD:7240710 20180130 OMIM 11950773 RPGRIP1 RPGR interacting protein 1 gene DOID:0110329 Leber congenital amaurosis 6 ISO RGD:1321922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 6 PMID:11283794|PMID:11528500|PMID:12920076|PMID:14971589|PMID:15024725|PMID:15800011|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16339905|PMID:16374347|PMID:17576681|PMID:17964524|PMID:18055816|PMID:20079931|PMID:20301475|PMID:21153841|PMID:21224891|PMID:21602930|PMID:21857984|PMID:22025579|PMID:22277662|PMID:23105016|PMID:23213406|PMID:23505306|PMID:23776498|PMID:23847139|PMID:24123792|PMID:24265693|PMID:24516651|PMID:24997176|PMID:25097241|PMID:25412400|PMID:25445212|PMID:25741868|PMID:26355662|PMID:26667666|PMID:26764160|PMID:26893459|PMID:27353947|PMID:27884173|PMID:28041643|PMID:28181551|PMID:28456785|PMID:28492532|PMID:28559085|PMID:28679690|PMID:28714225|PMID:28838317|PMID:29178642|PMID:29844330|PMID:30072743|PMID:30202406|PMID:30576320|PMID:30718709|PMID:31630094|PMID:31736247|PMID:31816670|PMID:32165824|PMID:32531858|PMID:32860008|PMID:32865313|PMID:33670832|PMID:9536098 11950773 RPGRIP1 RPGR interacting protein 1 gene DOID:0111002 Joubert syndrome 7 ISO RGD:1321922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 7 11950773 RPGRIP1 RPGR interacting protein 1 gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1321922 D RGD:7240710 20180130 OMIM 11950773 RPGRIP1 RPGR interacting protein 1 gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1321922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:11283794|PMID:11528500|PMID:12920076|PMID:14971589|PMID:15024725|PMID:15800011|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16339905|PMID:16374347|PMID:17525851|PMID:17576681|PMID:17964524|PMID:18055816|PMID:18682808|PMID:20079931|PMID:20301475|PMID:21153841|PMID:21224891|PMID:21602930|PMID:21857984|PMID:22025579|PMID:22261762|PMID:22277662|PMID:23105016|PMID:23213406|PMID:23505306|PMID:23776498|PMID:23847139|PMID:24123792|PMID:24265693|PMID:24997176|PMID:25097241|PMID:25326637|PMID:25412400|PMID:25445212|PMID:25640679|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26667666|PMID:26764160|PMID:26872967|PMID:26893459|PMID:26992781|PMID:27208204|PMID:27353947|PMID:27422788|PMID:27884173|PMID:28041643|PMID:28157192|PMID:28378820|PMID:28453600|PMID:28456785|PMID:28492532|PMID:28559085|PMID:28679690|PMID:28714225|PMID:28838317|PMID:29178642|PMID:29343940|PMID:29754767|PMID:29844330|PMID:30072743|PMID:30202406|PMID:30576320|PMID:30902645|PMID:31456290|PMID:31630094|PMID:31736247|PMID:32581362|PMID:32860008|PMID:32865313|PMID:33670832|PMID:9536098 11950773 RPGRIP1 RPGR interacting protein 1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1321922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:25741868|PMID:26893459|PMID:28492532 11950773 RPGRIP1 RPGR interacting protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1321922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11528500|PMID:23105016|PMID:25741868|PMID:28041643|PMID:28456785|PMID:28492532|PMID:29178642|PMID:31456290 11950773 RPGRIP1 RPGR interacting protein 1 gene DOID:10907 microcephaly ISO RGD:1321922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11950773 RPGRIP1 RPGR interacting protein 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1321922 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:11283794|PMID:11528500|PMID:16199547|PMID:16272259|PMID:20065226|PMID:20079931|PMID:21602930|PMID:23105016|PMID:24123792|PMID:24516651|PMID:24997176|PMID:25741868|PMID:26047050|PMID:27422788|PMID:28041643|PMID:28181551|PMID:28456785|PMID:28492532|PMID:28714225|PMID:30072743|PMID:30202406|PMID:30576320|PMID:30718709|PMID:31630094|PMID:31816670|PMID:32165824|PMID:32531858|PMID:32581362|PMID:32860008 11950773 RPGRIP1 RPGR interacting protein 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1321922 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868 11950773 RPGRIP1 RPGR interacting protein 1 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1321922 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 11950773 RPGRIP1 RPGR interacting protein 1 gene DOID:630 genetic disease ISO RGD:1321922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11950773 RPGRIP1 RPGR interacting protein 1 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1321922 D RGD:9068941 20200609 RGD PMID:11283794|REF_RGD_ID:1599580 11950773 RPGRIP1 RPGR interacting protein 1 gene DOID:8501 fundus dystrophy ISO RGD:1321922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11528500|PMID:15024725|PMID:23105016|PMID:25445212|PMID:25741868|PMID:27208204|PMID:28492532|PMID:28559085|PMID:28714225|PMID:30072743|PMID:30576320 11950773 RPGRIP1 RPGR interacting protein 1 gene DOID:9000343 Vision Disorders ISO RGD:1321922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:11528500|PMID:25741868 11950773 RPGRIP1 RPGR interacting protein 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321922 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11950773 RPGRIP1 RPGR interacting protein 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1321922 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:24123792|PMID:26047050|PMID:27422788|PMID:28041643|PMID:28492532|PMID:32581362 11950773 RPGRIP1 RPGR interacting protein 1 gene DOID:9650 pathologic nystagmus ISO RGD:1321922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11283794 11950838 LOC100971372 tyrosine-protein kinase ZAP-70 gene DOID:0111943 immunodeficiency 48 ISO RGD:1349191 D RGD:7240710 20180130 OMIM 11950838 LOC100971372 tyrosine-protein kinase ZAP-70 gene DOID:0111943 immunodeficiency 48 ISO RGD:1349191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to ZAP70 deficiency | ClinVar Annotator: match by term: ZAP70-Related Severe Combined Immunodeficiency PMID:10574909|PMID:11412303|PMID:16199547|PMID:17576681|PMID:20301777|PMID:21441961|PMID:24033266|PMID:24164480|PMID:25627829|PMID:25741868|PMID:26783323|PMID:27448562|PMID:28124082|PMID:28216435|PMID:28492532|PMID:29684201|PMID:30778343|PMID:8124727|PMID:8202712|PMID:8202713|PMID:9536098 11950838 LOC100971372 tyrosine-protein kinase ZAP-70 gene DOID:0111962 combined immunodeficiency ISO RGD:1349191 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:20301777|PMID:25627829|PMID:25741868|PMID:26783323|PMID:28492532 11950838 LOC100971372 tyrosine-protein kinase ZAP-70 gene DOID:612 primary immunodeficiency disease ISO RGD:1349191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17767948 11950838 LOC100971372 tyrosine-protein kinase ZAP-70 gene DOID:627 severe combined immunodeficiency ISO RGD:1349191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:28492532 11950838 LOC100971372 tyrosine-protein kinase ZAP-70 gene DOID:630 genetic disease ISO RGD:1349191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11950838 LOC100971372 tyrosine-protein kinase ZAP-70 gene DOID:7148 rheumatoid arthritis ISO RGD:11501 D RGD:9068941 20220825 MouseDO OMIM:180300 11950838 LOC100971372 tyrosine-protein kinase ZAP-70 gene DOID:9003794 T Cell Immunodeficiency Primary ISO RGD:1349191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8124727 11950838 LOC100971372 tyrosine-protein kinase ZAP-70 gene DOID:9005984 Multisystem Autoimmune Disease, Infantile-Onset, 2 ISO RGD:1349191 D RGD:7240710 20190315 OMIM 11950838 LOC100971372 tyrosine-protein kinase ZAP-70 gene DOID:9005984 Multisystem Autoimmune Disease, Infantile-Onset, 2 ISO RGD:1349191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune disease, multisystem, infantile-onset, 2 PMID:20301777|PMID:25627829|PMID:25741868|PMID:26783323|PMID:28492532 11950855 STEAP4 STEAP4 metalloreductase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11950855 STEAP4 STEAP4 metalloreductase gene DOID:630 genetic disease ISO RGD:1347045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11950855 STEAP4 STEAP4 metalloreductase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347045 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11950855 STEAP4 STEAP4 metalloreductase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347045 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25320179 11950865 PDP1 pyruvate dehydrogenase phosphatase catalytic subunit 1 gene DOID:0050777 Joubert syndrome ISO RGD:731545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:20232449|PMID:23559409|PMID:28492532 11950865 PDP1 pyruvate dehydrogenase phosphatase catalytic subunit 1 gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:12246530 D RGD:9068941 20210604 OMIA Pyruvate dehydrogenase deficiency PMID:15049576|PMID:17095275|PMID:516334|PMID:552740|PMID:7361423 11950865 PDP1 pyruvate dehydrogenase phosphatase catalytic subunit 1 gene DOID:630 genetic disease ISO RGD:731545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11950865 PDP1 pyruvate dehydrogenase phosphatase catalytic subunit 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29335542 11950865 PDP1 pyruvate dehydrogenase phosphatase catalytic subunit 1 gene DOID:9005740 Pyruvate Dehydrogenase Phosphatase Deficiency ISO RGD:731545 D RGD:7240710 20180130 OMIM 11950865 PDP1 pyruvate dehydrogenase phosphatase catalytic subunit 1 gene DOID:9005740 Pyruvate Dehydrogenase Phosphatase Deficiency ISO RGD:731545 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase phosphatase deficiency PMID:15855260|PMID:19184109|PMID:25741868|PMID:28492532|PMID:31392110 11950865 PDP1 pyruvate dehydrogenase phosphatase catalytic subunit 1 gene DOID:9970 obesity ISO RGD:731545 D RGD:9068941 20200609 RGD protein:decreased activity:circulating lymphocytes PMID:15897476|REF_RGD_ID:1642637 11950888 TMEM130 transmembrane protein 130 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11950888 TMEM130 transmembrane protein 130 gene DOID:630 genetic disease ISO RGD:1605559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11950913 ANKHD1 ankyrin repeat and KH domain containing 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1606539 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11950913 ANKHD1 ankyrin repeat and KH domain containing 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606539 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11950913 ANKHD1 ankyrin repeat and KH domain containing 1 gene DOID:630 genetic disease ISO RGD:1606539 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11950913 ANKHD1 ankyrin repeat and KH domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606539 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11950913 ANKHD1 ankyrin repeat and KH domain containing 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606539 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11950984 DHX57 DExH-box helicase 57 gene DOID:0080690 RASopathy ISO RGD:1321188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11950984 DHX57 DExH-box helicase 57 gene DOID:3883 Lynch syndrome ISO RGD:1321188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11950984 DHX57 DExH-box helicase 57 gene DOID:630 genetic disease ISO RGD:1321188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11950984 DHX57 DExH-box helicase 57 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11951019 VWA5B1 von Willebrand factor A domain containing 5B1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1606163 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11951019 VWA5B1 von Willebrand factor A domain containing 5B1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1606163 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11951019 VWA5B1 von Willebrand factor A domain containing 5B1 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1606163 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11951019 VWA5B1 von Willebrand factor A domain containing 5B1 gene DOID:630 genetic disease ISO RGD:1606163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951019 VWA5B1 von Willebrand factor A domain containing 5B1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1606163 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11951045 TMEM104 transmembrane protein 104 gene DOID:630 genetic disease ISO RGD:1606542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951066 GFUS GDP-L-fucose synthase gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1315979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11951066 GFUS GDP-L-fucose synthase gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1315979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11951066 GFUS GDP-L-fucose synthase gene DOID:4621 holoprosencephaly ISO RGD:1315979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11951066 GFUS GDP-L-fucose synthase gene DOID:630 genetic disease ISO RGD:1315979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951091 EFTUD2 elongation factor Tu GTP binding domain containing 2 gene DOID:0080196 mandibulofacial dysostosis, Guion-Almeida type ISO RGD:1606577 D RGD:7240710 20180130 OMIM 11951091 EFTUD2 elongation factor Tu GTP binding domain containing 2 gene DOID:0080196 mandibulofacial dysostosis, Guion-Almeida type ISO RGD:1606577 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Mandibulofacial dysostosis-microcephaly syndrome PMID:16199547|PMID:16760738|PMID:19334086|PMID:22305528|PMID:22541558|PMID:23188108|PMID:24470203|PMID:24999515|PMID:25326635|PMID:25326637|PMID:25387991|PMID:25741868|PMID:26507355|PMID:28492532|PMID:28708303|PMID:32333448|PMID:32410215 11951091 EFTUD2 elongation factor Tu GTP binding domain containing 2 gene DOID:10485 esophageal atresia ISO RGD:1606577 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:23188108|REF_RGD_ID:10045556 11951091 EFTUD2 elongation factor Tu GTP binding domain containing 2 gene DOID:10907 microcephaly ISO RGD:1606577 D RGD:9068941 20230105 RGD associated with mandibulofacial dysostosis, Guion-Almeida type;DNA:mutations:cds:multiple PMID:24470203|REF_RGD_ID:155791662 11951091 EFTUD2 elongation factor Tu GTP binding domain containing 2 gene DOID:2043 hepatitis B susceptibility ISO RGD:1606577 D RGD:9068941 20230105 RGD PMID:34436958|REF_RGD_ID:155791665 11951091 EFTUD2 elongation factor Tu GTP binding domain containing 2 gene DOID:219 colon cancer ameliorates ISO RGD:1557328 D RGD:9068941 20230105 RGD associated with colitis; PMID:31278373|REF_RGD_ID:155791667 11951091 EFTUD2 elongation factor Tu GTP binding domain containing 2 gene DOID:630 genetic disease ISO RGD:1606577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24470203|PMID:25741868|PMID:26507355|PMID:28492532 11951091 EFTUD2 elongation factor Tu GTP binding domain containing 2 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1606577 D RGD:9068941 20230105 RGD PMID:34282556|REF_RGD_ID:155791664 11951091 EFTUD2 elongation factor Tu GTP binding domain containing 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1606577 D RGD:9068941 20230105 RGD PMID:34282556|REF_RGD_ID:155791664 11951091 EFTUD2 elongation factor Tu GTP binding domain containing 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:1606577 D RGD:9068941 20230105 RGD protein:increased expression:trophoblast, decidua: PMID:32447180|REF_RGD_ID:155791666 11951091 EFTUD2 elongation factor Tu GTP binding domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606577 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11951091 EFTUD2 elongation factor Tu GTP binding domain containing 2 gene DOID:9004538 Hearing Loss ISO RGD:1606577 D RGD:9068941 20230105 RGD associated with mandibulofacial dysostosis, Guion-Almeida type;DNA:mutations:cds:multiple PMID:24470203|REF_RGD_ID:155791662 11951091 EFTUD2 elongation factor Tu GTP binding domain containing 2 gene DOID:9005147 Hydatidiform Mole ISO RGD:1606577 D RGD:9068941 20230105 RGD protein:increased expression:trophoblast, decidua: PMID:32447180|REF_RGD_ID:155791666 11951091 EFTUD2 elongation factor Tu GTP binding domain containing 2 gene DOID:9008003 Mandibulofacial Dysostosis ISO RGD:1606577 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:23188108|REF_RGD_ID:10045556 11951091 EFTUD2 elongation factor Tu GTP binding domain containing 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1606577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741880 11951091 EFTUD2 elongation factor Tu GTP binding domain containing 2 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1606577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 11951123 DYNC2I2 dynein 2 intermediate chain 2 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1342520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:19610081|PMID:24183451|PMID:28492532|PMID:29068549|PMID:29241935|PMID:32576942 11951123 DYNC2I2 dynein 2 intermediate chain 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1342520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24183449|PMID:24183451|PMID:28492532 11951123 DYNC2I2 dynein 2 intermediate chain 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1342520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22722545|PMID:24183449|PMID:24183451|PMID:28379358|PMID:28492532|PMID:31332438|PMID:33206935|PMID:33578420 11951123 DYNC2I2 dynein 2 intermediate chain 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1342520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11951123 DYNC2I2 dynein 2 intermediate chain 2 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1342520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 PMID:29068549 11951123 DYNC2I2 dynein 2 intermediate chain 2 gene DOID:0110095 short-rib thoracic dysplasia 11 with or without polydactyly ISO RGD:1342520 D RGD:7240710 20180130 OMIM 11951123 DYNC2I2 dynein 2 intermediate chain 2 gene DOID:0110095 short-rib thoracic dysplasia 11 with or without polydactyly ISO RGD:1342520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 11 with or without polydactyly PMID:17576681|PMID:19610081|PMID:24183449|PMID:24183451|PMID:25741868|PMID:28379358|PMID:28492532|PMID:29068549|PMID:29241935|PMID:32576942|PMID:33578420|PMID:9536098 11951123 DYNC2I2 dynein 2 intermediate chain 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1342520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22722545|PMID:24183449|PMID:24183451|PMID:28379358|PMID:28492532|PMID:31332438|PMID:33206935|PMID:33578420 11951123 DYNC2I2 dynein 2 intermediate chain 2 gene DOID:630 genetic disease ISO RGD:1342520 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11951136 ACVRL1 activin A receptor like type 1 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:10079 D RGD:9068941 20220825 MouseDO OMIM:108010 11951136 ACVRL1 activin A receptor like type 1 gene DOID:0080600 COVID-19 ISO RGD:737253 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11951136 ACVRL1 activin A receptor like type 1 gene DOID:11294 arteriovenous malformation ISO RGD:10079 D RGD:9068941 20200609 RGD PMID:11062473|REF_RGD_ID:1300250 11951136 ACVRL1 activin A receptor like type 1 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:737253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:21158752|PMID:25637381|PMID:26176610|PMID:28166811|PMID:28492532 11951136 ACVRL1 activin A receptor like type 1 gene DOID:1588 thrombocytopenia ISO RGD:737253 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:20501893|PMID:24033266|PMID:25741868|PMID:28492532 11951136 ACVRL1 activin A receptor like type 1 gene DOID:2213 hemorrhagic disease ISO RGD:737253 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:20501893|PMID:24033266|PMID:25741868|PMID:28492532 11951136 ACVRL1 activin A receptor like type 1 gene DOID:224 transient cerebral ischemia ISO RGD:2029 D RGD:9068941 20200609 RGD PMID:15781474|REF_RGD_ID:1579751 11951136 ACVRL1 activin A receptor like type 1 gene DOID:630 genetic disease ISO RGD:737253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951136 ACVRL1 activin A receptor like type 1 gene DOID:6432 pulmonary hypertension ISO RGD:2029 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17392319|REF_RGD_ID:1601116 11951136 ACVRL1 activin A receptor like type 1 gene DOID:6432 pulmonary hypertension ISO RGD:737253 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26540443 11951136 ACVRL1 activin A receptor like type 1 gene DOID:6432 pulmonary hypertension disease_progression ISO RGD:737253 D RGD:9068941 20200609 RGD DNA:mutations (human) PMID:20056902|REF_RGD_ID:5128837 11951136 ACVRL1 activin A receptor like type 1 gene DOID:6432 pulmonary hypertension susceptibility ISO RGD:737253 D RGD:9068941 20200609 RGD associated with hereditary haemorrhagic telangiectasia;DNA:missense mutations PMID:14684682|REF_RGD_ID:1601117 11951136 ACVRL1 activin A receptor like type 1 gene DOID:9001227 Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related ISO RGD:737253 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PMID:10187774|PMID:10767348|PMID:11170071|PMID:11484689|PMID:12114496|PMID:12700602|PMID:12843319|PMID:14684682|PMID:15024723|PMID:15065824|PMID:15375013|PMID:15517393|PMID:15687131|PMID:15712271|PMID:15880681|PMID:16123970|PMID:16282348|PMID:16429404|PMID:16470589|PMID:16470787|PMID:16525724|PMID:16540754|PMID:16542389|PMID:16690726|PMID:16705692|PMID:16706966|PMID:16752392|PMID:16829353|PMID:16861286|PMID:17384219|PMID:17786384|PMID:18159113|PMID:18285823|PMID:18498373|PMID:18673552|PMID:19115559|PMID:19357124|PMID:19767588|PMID:20056902|PMID:20414677|PMID:20501893|PMID:20609011|PMID:21158752|PMID:21378382|PMID:21651515|PMID:22377182|PMID:22553411|PMID:22632830|PMID:22991266|PMID:23124896|PMID:23298310|PMID:23722869|PMID:23805858|PMID:23919827|PMID:24001356|PMID:24196379|PMID:24603890|PMID:25318803|PMID:25326635|PMID:25741868|PMID:25970827|PMID:26176610|PMID:26387786|PMID:27316748|PMID:27587546|PMID:27613157|PMID:27869117|PMID:28492532|PMID:29449337|PMID:29631995|PMID:29650961|PMID:29743074|PMID:30260738|PMID:30303062|PMID:30578383|PMID:30578397|PMID:31019026|PMID:31220907|PMID:31400083|PMID:31455059|PMID:31511490|PMID:32300199|PMID:32503579|PMID:32573726|PMID:32581362|PMID:33919892|PMID:8640225|PMID:9245985 11951136 ACVRL1 activin A receptor like type 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:737253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:10767348|PMID:11484689|PMID:12114496|PMID:14684682|PMID:15024723|PMID:15517393|PMID:15687131|PMID:15880681|PMID:16429404|PMID:16470787|PMID:16540754|PMID:16542389|PMID:16752392|PMID:17384219|PMID:17786384|PMID:18159113|PMID:18495117|PMID:18498373|PMID:18673552|PMID:19767588|PMID:20056902|PMID:20501893|PMID:21378382|PMID:22632830|PMID:23124896|PMID:23298310|PMID:23919827|PMID:24033266|PMID:24753439|PMID:25741868|PMID:25970827|PMID:26387786|PMID:27316748|PMID:27587546|PMID:28492532|PMID:29449337|PMID:29650961|PMID:29743074|PMID:30260738|PMID:30303062|PMID:30578383|PMID:31019026|PMID:32300199|PMID:32503579|PMID:32581362|PMID:32899377 11951136 ACVRL1 activin A receptor like type 1 gene DOID:9002350 Hereditary Hemorrhagic Telangiectasia, Type 1 ISO RGD:737253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 PMID:15024723|PMID:15065824|PMID:15517393|PMID:15712271|PMID:16282348|PMID:16429404|PMID:16470787|PMID:16540754|PMID:16705692|PMID:16861286|PMID:17219009|PMID:17384219|PMID:17576681|PMID:17786384|PMID:18673552|PMID:19767588|PMID:20414677|PMID:20501893|PMID:21158752|PMID:23722869|PMID:23919827|PMID:24196379|PMID:25741868|PMID:26176610|PMID:26387786|PMID:28492532|PMID:29631995|PMID:30578397|PMID:31220907|PMID:32300199|PMID:32573726|PMID:9536098 11951136 ACVRL1 activin A receptor like type 1 gene DOID:9004771 Vascular Remodeling ISO RGD:737253 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26540443 11951136 ACVRL1 activin A receptor like type 1 gene DOID:9005819 Hereditary Hemorrhagic Telangiectasia, Type 2 ISO RGD:737253 D RGD:7240710 20180130 OMIM 11951136 ACVRL1 activin A receptor like type 1 gene DOID:9005819 Hereditary Hemorrhagic Telangiectasia, Type 2 ISO RGD:737253 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Lip telangiectasia | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 2 PMID:10187774|PMID:10694922|PMID:10767348|PMID:10946360|PMID:11170071|PMID:11484689|PMID:11865300|PMID:12079393|PMID:12114496|PMID:12700602|PMID:12843319|PMID:14684682|PMID:15024723|PMID:15065824|PMID:15266205|PMID:15375013|PMID:15517393|PMID:15521985|PMID:15687131|PMID:15712270|PMID:15712271|PMID:15879500|PMID:15880681|PMID:15993872|PMID:16123970|PMID:16199547|PMID:16282348|PMID:16429404|PMID:16470589|PMID:16470787|PMID:16525724|PMID:16540754|PMID:16542389|PMID:16611099|PMID:16690726|PMID:16705692|PMID:16706966|PMID:16752392|PMID:16829353|PMID:16861286|PMID:17219009|PMID:17384219|PMID:17576681|PMID:17786384|PMID:18159113|PMID:18285823|PMID:18312453|PMID:18495117|PMID:18498373|PMID:18673552|PMID:19357124|PMID:19508727|PMID:19555857|PMID:19763152|PMID:19767588|PMID:20056902|PMID:20307669|PMID:20414677|PMID:20501893|PMID:21132305|PMID:21158752|PMID:21378382|PMID:21398687|PMID:21488239|PMID:21536610|PMID:21546842|PMID:22028876|PMID:22377182|PMID:22406018|PMID:22553411|PMID:22632830|PMID:22718755|PMID:22781769|PMID:22799562|PMID:22977237|PMID:22991266|PMID:23124896|PMID:23298310|PMID:23535011|PMID:23568730|PMID:23653583|PMID:23722869|PMID:23729109|PMID:23805858|PMID:23919827|PMID:24001356|PMID:24033266|PMID:24055113|PMID:24196379|PMID:24603890|PMID:24753439|PMID:25318803|PMID:25326635|PMID:25557927|PMID:25637381|PMID:25741868|PMID:25778885|PMID:25970827|PMID:26176610|PMID:26245826|PMID:26387786|PMID:26401274|PMID:26986070|PMID:27077548|PMID:27081284|PMID:27291782|PMID:27316748|PMID:27587546|PMID:27613157|PMID:27630060|PMID:27869117|PMID:28166811|PMID:28492532|PMID:28655553|PMID:29171923|PMID:29449337|PMID:29515340|PMID:29631995|PMID:29650961|PMID:29743074|PMID:29923633|PMID:30120215|PMID:30244195|PMID:30251589|PMID:30260738|PMID:30303062|PMID:30578383|PMID:30578397|PMID:31019026|PMID:31220907|PMID:31327192|PMID:31400083|PMID:31450639|PMID:31455059|PMID:31511490|PMID:31594285|PMID:31618753|PMID:31727138|PMID:31875044|PMID:32165824|PMID:32300199|PMID:32503579|PMID:32573726|PMID:32581362|PMID:32899377|PMID:33919892|PMID:34008892|PMID:34501220|PMID:34872578|PMID:6470589|PMID:8640225|PMID:9245985|PMID:9536098 11951136 ACVRL1 activin A receptor like type 1 gene DOID:9008421 Epistaxis ISO RGD:737253 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Epistaxis PMID:11484689|PMID:15687131|PMID:16540754|PMID:17786384|PMID:18159113|PMID:18498373|PMID:20056902|PMID:20501893|PMID:21378382|PMID:22632830|PMID:23124896|PMID:23298310|PMID:23919827|PMID:25741868|PMID:26387786|PMID:27316748|PMID:28492532|PMID:30260738|PMID:32581362 11951136 ACVRL1 activin A receptor like type 1 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:737253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:12700602|PMID:14684682|PMID:15024723|PMID:15712271|PMID:15879500|PMID:15880681|PMID:16429404|PMID:16470787|PMID:16540754|PMID:16690726|PMID:16705692|PMID:18159113|PMID:18495117|PMID:18498373|PMID:19555857|PMID:20414677|PMID:20501893|PMID:21158752|PMID:22632830|PMID:22781769|PMID:23298310|PMID:23535011|PMID:23722869|PMID:24753439|PMID:25557927|PMID:25741868|PMID:26387786|PMID:27316748|PMID:28492532|PMID:28918311|PMID:29449337|PMID:29515340|PMID:31400083|PMID:31727138|PMID:32300199|PMID:32503579|PMID:32581362|PMID:9245985 11951156 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:0050700 cardiomyopathy ISO RGD:1316107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14729820 11951156 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1316107 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:20818383|PMID:20819849|PMID:22200994|PMID:24215330|PMID:24642831|PMID:25741868|PMID:27502960|PMID:27604308|PMID:28492532 11951156 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1316107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11951156 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:0112066 nuclear type mitochondrial complex I deficiency 6 ISO RGD:1316107 D RGD:7240710 20190315 OMIM 11951156 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:0112066 nuclear type mitochondrial complex I deficiency 6 ISO RGD:1316107 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 PMID:11220739|PMID:22200994|PMID:25741868|PMID:28492532|PMID:31411514 11951156 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1316107 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:17576681|PMID:22200994|PMID:25741868|PMID:28492532|PMID:9536098 11951156 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:11984 hypertrophic cardiomyopathy susceptibility ISO RGD:1316107 D RGD:9068941 20200609 RGD associated with Mitochondrial Encephalomyopathies;DNA:missense mutations: :p.R228Q, p.P229Q, p.S413P (human) PMID:11220739|REF_RGD_ID:1600573 11951156 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:1540 parathyroid carcinoma ISO RGD:1316107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11951156 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:2377 multiple sclerosis ISO RGD:1316107 D RGD:9068941 20200609 RGD PMID:18682780|REF_RGD_ID:6482255 11951156 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:3652 Leigh disease ISO RGD:1316107 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.M292T (human) PMID:20819849|REF_RGD_ID:6482269 11951156 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:630 genetic disease ISO RGD:1316107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20818383|PMID:25741868|PMID:28050010|PMID:28492532 11951156 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:655 inherited metabolic disorder ISO RGD:1316107 D RGD:9068941 20200609 RGD mitochondrial complex I deficiency, OMIM:252010, DNA:point mutation:exon:R228Q PMID:11220739|REF_RGD_ID:1600573 11951156 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1316107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber optic atrophy PMID:25741868 11951156 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1316107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14729820 11951156 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1307109 D RGD:9068941 20200609 RGD protein:decreased expression:dorsal root ganglia (rat) PMID:20876714|REF_RGD_ID:6484699 11951156 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11951174 PMP2 peripheral myelin protein 2 gene DOID:0111560 Charcot-Marie-Tooth disease type 1G ISO RGD:1316684 D RGD:7240710 20190315 OMIM 11951174 PMP2 peripheral myelin protein 2 gene DOID:0111560 Charcot-Marie-Tooth disease type 1G ISO RGD:1316684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1G PMID:23806086|PMID:24088041|PMID:25741868|PMID:26257172|PMID:26828946|PMID:27009151|PMID:28492532|PMID:28747762|PMID:30249361|PMID:30941082|PMID:31412900|PMID:32277537 11951174 PMP2 peripheral myelin protein 2 gene DOID:574 peripheral nervous system disease ISO RGD:1316684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:23806086|PMID:24088041|PMID:26257172|PMID:26828946|PMID:28492532|PMID:28747762 11951174 PMP2 peripheral myelin protein 2 gene DOID:630 genetic disease ISO RGD:1316684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26257172|PMID:26828946|PMID:27009151|PMID:28492532|PMID:28747762|PMID:30249361|PMID:30941082|PMID:31412900|PMID:32277537 11951174 PMP2 peripheral myelin protein 2 gene DOID:870 neuropathy ISO RGD:1316684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:23806086|PMID:24088041|PMID:26257172|PMID:26828946|PMID:28492532|PMID:28747762 11951182 EAF2 ELL associated factor 2 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:736664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 11951182 EAF2 ELL associated factor 2 gene DOID:0080600 COVID-19 ISO RGD:736664 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11951182 EAF2 ELL associated factor 2 gene DOID:10283 prostate cancer ISO RGD:736664 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:12907652|REF_RGD_ID:634486 11951182 EAF2 ELL associated factor 2 gene DOID:630 genetic disease ISO RGD:736664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951182 EAF2 ELL associated factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:736664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20564326 11951182 EAF2 ELL associated factor 2 gene DOID:707 B-cell lymphoma ISO RGD:736664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20564326 11951182 EAF2 ELL associated factor 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20564326 11951182 EAF2 ELL associated factor 2 gene DOID:9005172 Lung Neoplasms ISO RGD:736664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20564326 11951182 EAF2 ELL associated factor 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:736664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 11951182 EAF2 ELL associated factor 2 gene DOID:9270 alkaptonuria ISO RGD:736664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11951192 TBC1D14 TBC1 domain family member 14 gene DOID:630 genetic disease ISO RGD:1320638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951210 ENAH ENAH actin regulator gene DOID:1540 parathyroid carcinoma ISO RGD:1316988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11951210 ENAH ENAH actin regulator gene DOID:630 genetic disease ISO RGD:1316988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951210 ENAH ENAH actin regulator gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1316988 D RGD:9068941 20230105 RGD mRNA:increased expression:liver (human) PMID:35030977|REF_RGD_ID:155791678 11951210 ENAH ENAH actin regulator gene DOID:9119 acute myeloid leukemia ISO RGD:1316988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26237430 11951210 ENAH ENAH actin regulator gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11951244 TTC32 tetratricopeptide repeat domain 32 gene DOID:630 genetic disease ISO RGD:1605580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951256 PRR11 proline rich 11 gene DOID:0050436 mulibrey nanism ISO RGD:1601861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mulibrey nanism syndrome PMID:21681106 11951256 PRR11 proline rich 11 gene DOID:0050777 Joubert syndrome ISO RGD:1601861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11951256 PRR11 proline rich 11 gene DOID:0080600 COVID-19 ISO RGD:1601861 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11951256 PRR11 proline rich 11 gene DOID:630 genetic disease ISO RGD:1601861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951270 PRMT5 protein arginine methyltransferase 5 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1319178 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:31123343 11951270 PRMT5 protein arginine methyltransferase 5 gene DOID:0050902 medulloblastoma ISO RGD:1319178 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:31694585 11951270 PRMT5 protein arginine methyltransferase 5 gene DOID:0060250 idiopathic scoliosis ISO RGD:1319179 D RGD:9068941 20220825 MouseDO 11951270 PRMT5 protein arginine methyltransferase 5 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1319178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11951270 PRMT5 protein arginine methyltransferase 5 gene DOID:2696 Leydig cell tumor ISO RGD:1319178 D RGD:9068941 20200609 RGD protein:altered localization PMID:17437848|REF_RGD_ID:2299953 11951270 PRMT5 protein arginine methyltransferase 5 gene DOID:2841 asthma ISO RGD:1309053 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, spleen PMID:20423833|REF_RGD_ID:9491823 11951270 PRMT5 protein arginine methyltransferase 5 gene DOID:4440 seminoma ISO RGD:1319178 D RGD:9068941 20200609 RGD protein:altered localization PMID:17437848|REF_RGD_ID:2299953 11951270 PRMT5 protein arginine methyltransferase 5 gene DOID:630 genetic disease ISO RGD:1319178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951270 PRMT5 protein arginine methyltransferase 5 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1319178 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11951270 PRMT5 protein arginine methyltransferase 5 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319178 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11951270 PRMT5 protein arginine methyltransferase 5 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1319178 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:30957988 11951270 PRMT5 protein arginine methyltransferase 5 gene DOID:9538 multiple myeloma ISO RGD:1319178 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:29158558 11951303 EAF1 ELL associated factor 1 gene DOID:0060417 3p deletion syndrome ISO RGD:1320738 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 11951303 EAF1 ELL associated factor 1 gene DOID:630 genetic disease ISO RGD:1320738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951313 ZNF850 zinc finger protein 850 gene DOID:630 genetic disease ISO RGD:2302450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951324 TBC1D9 TBC1 domain family member 9 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1604383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:28332277 11951324 TBC1D9 TBC1 domain family member 9 gene DOID:630 genetic disease ISO RGD:1604383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951324 TBC1D9 TBC1 domain family member 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11951361 CAV3 caveolin 3 gene DOID:0050700 cardiomyopathy ISO RGD:1344208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:09536092|PMID:11251997|PMID:11884389|PMID:14672715|PMID:15099591|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:17897828|PMID:18253147|PMID:18509671|PMID:19380584|PMID:19773168|PMID:22245016|PMID:22378279|PMID:22581547|PMID:22584458|PMID:22595201|PMID:23465283|PMID:23631430|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:24917393|PMID:25351510|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26404900|PMID:26467025|PMID:26498160|PMID:27066573|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27772553|PMID:27854218|PMID:27930701|PMID:28407228|PMID:28492532|PMID:28810874|PMID:28898996|PMID:29396561|PMID:29501670|PMID:29961767|PMID:30055862|PMID:30704477|PMID:30847666|PMID:31043699|PMID:31638414|PMID:31737537|PMID:9536092 11951361 CAV3 caveolin 3 gene DOID:0060255 rippling muscle disease 2 ISO RGD:1344208 D RGD:7240710 20180130 OMIM 11951361 CAV3 caveolin 3 gene DOID:0060255 rippling muscle disease 2 ISO RGD:1344208 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Caveolinopathy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1C | ClinVar Annotator: match by term: Rippling muscle disease 2 | ClinVar Annotator: match by term: Rippling muscle disease 2, autosomal recessive PMID:09536092|PMID:09537420|PMID:10227634|PMID:10464299|PMID:10746614|PMID:11001938|PMID:11251997|PMID:11353417|PMID:11431690|PMID:1146501|PMID:11756609|PMID:11805270|PMID:11884389|PMID:12269726|PMID:12557291|PMID:12666119|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14600260|PMID:14633633|PMID:14663034|PMID:14672715|PMID:15318349|PMID:15564037|PMID:15580566|PMID:15668980|PMID:16247063|PMID:16723230|PMID:16730439|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:17556197|PMID:17576681|PMID:17897828|PMID:17994539|PMID:18253147|PMID:18509671|PMID:18583131|PMID:18930476|PMID:19380584|PMID:19697367|PMID:19773168|PMID:19835634|PMID:20229577|PMID:20472890|PMID:21294223|PMID:21404291|PMID:21610159|PMID:21660982|PMID:22245016|PMID:22378279|PMID:22584458|PMID:22595201|PMID:22976939|PMID:23465283|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:25351510|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26185955|PMID:26404900|PMID:26467025|PMID:26498160|PMID:26947586|PMID:2705900|PMID:27184587|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27854218|PMID:27930701|PMID:28407228|PMID:28492532|PMID:28807458|PMID:28837624|PMID:28877744|PMID:28898996|PMID:28981925|PMID:29396561|PMID:29501670|PMID:29961767|PMID:30055862|PMID:30174172|PMID:30704477|PMID:30723005|PMID:30847666|PMID:31036801|PMID:31043699|PMID:31638414|PMID:32419263|PMID:32528171|PMID:9536092|PMID:9536098|PMID:9537420 11951361 CAV3 caveolin 3 gene DOID:0070308 rippling muscle disease 1 ISO RGD:1344208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11431690|PMID:15668980|PMID:16247063|PMID:21294223|PMID:30055862 11951361 CAV3 caveolin 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1344208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:14672715|PMID:15580566 11951361 CAV3 caveolin 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1344208 D RGD:7240710 20180130 OMIM 11951361 CAV3 caveolin 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1344208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:09536092|PMID:11251997|PMID:11884389|PMID:15580566|PMID:17060380|PMID:17210839|PMID:18509671|PMID:19380584|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26467025|PMID:26498160|PMID:27483260|PMID:27930701|PMID:28492532|PMID:29961767|PMID:9536092 11951361 CAV3 caveolin 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1344208 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:09536092|PMID:10227634|PMID:10746614|PMID:11251997|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:11884389|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:16730439|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17576681|PMID:17897828|PMID:18509671|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21294223|PMID:21404291|PMID:21610159|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26185955|PMID:26467025|PMID:26498160|PMID:27483260|PMID:27930701|PMID:28492532|PMID:28837624|PMID:28981925|PMID:29961767|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801|PMID:9536092|PMID:9536098 11951361 CAV3 caveolin 3 gene DOID:0110644 long QT syndrome 1 ISO RGD:1344208 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:09536092|PMID:11251997|PMID:11884389|PMID:14672715|PMID:15318349|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:17556197|PMID:18253147|PMID:18509671|PMID:19380584|PMID:19773168|PMID:22245016|PMID:22378279|PMID:22584458|PMID:22595201|PMID:23465283|PMID:23631430|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:24917393|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26467025|PMID:26498160|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27930701|PMID:28407228|PMID:28492532|PMID:28810874|PMID:28898996|PMID:29396561|PMID:29501670|PMID:29961767|PMID:30055862|PMID:30704477|PMID:30847666|PMID:31043699|PMID:31737537|PMID:9536092 11951361 CAV3 caveolin 3 gene DOID:0110650 long QT syndrome 9 ISO RGD:1344208 D RGD:7240710 20180130 OMIM 11951361 CAV3 caveolin 3 gene DOID:0110650 long QT syndrome 9 ISO RGD:1344208 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 9 | ClinVar Annotator: match by term: Long QT syndrome 9, acquired, susceptibility to PMID:09536092|PMID:10227634|PMID:10746614|PMID:11251997|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:11884389|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:16730439|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:17576681|PMID:17897828|PMID:18253147|PMID:18509671|PMID:18583131|PMID:18606002|PMID:18930476|PMID:19380584|PMID:19773168|PMID:20472890|PMID:21294223|PMID:21404291|PMID:21610159|PMID:22245016|PMID:22378279|PMID:22584458|PMID:22595201|PMID:23465283|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26185955|PMID:26467025|PMID:26498160|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27930701|PMID:28407228|PMID:28492532|PMID:28837624|PMID:28898996|PMID:28981925|PMID:29396561|PMID:29501670|PMID:29961767|PMID:30055862|PMID:30174172|PMID:30704477|PMID:30723005|PMID:31036801|PMID:31043699|PMID:9536092|PMID:9536098 11951361 CAV3 caveolin 3 gene DOID:0111004 Joubert syndrome 9 ISO RGD:1344208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 9 11951361 CAV3 caveolin 3 gene DOID:0111191 distal muscular dystrophy Tateyama type ISO RGD:1344208 D RGD:7240710 20180130 OMIM 11951361 CAV3 caveolin 3 gene DOID:0111191 distal muscular dystrophy Tateyama type ISO RGD:1344208 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal myopathy, Tateyama type PMID:09536092|PMID:10227634|PMID:10746614|PMID:11251997|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:11884389|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:16730439|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17556197|PMID:17576681|PMID:17897828|PMID:18509671|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21294223|PMID:21404291|PMID:21610159|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26185955|PMID:26467025|PMID:26498160|PMID:27061274|PMID:27483260|PMID:27930701|PMID:28492532|PMID:28837624|PMID:28981925|PMID:29961767|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801|PMID:9536092|PMID:9536098 11951361 CAV3 caveolin 3 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1344208 D RGD:7240710 20180130 OMIM 11951361 CAV3 caveolin 3 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1344208 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:09536092|PMID:10227634|PMID:10746614|PMID:11001938|PMID:11251997|PMID:11353417|PMID:11431690|PMID:1146501|PMID:11756609|PMID:11805270|PMID:11884389|PMID:12082049|PMID:12269726|PMID:12666119|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:14663034|PMID:14749532|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:16730439|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17576681|PMID:17897828|PMID:17994539|PMID:18487559|PMID:18509671|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20229577|PMID:20472890|PMID:21294223|PMID:21404291|PMID:21610159|PMID:21660982|PMID:22976939|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26185955|PMID:26467025|PMID:26498160|PMID:26947586|PMID:27483260|PMID:27930701|PMID:28492532|PMID:28807458|PMID:28837624|PMID:28877744|PMID:28981925|PMID:29961767|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801|PMID:9536092|PMID:9536098 11951361 CAV3 caveolin 3 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1344208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Dominant | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:09536092|PMID:11251997|PMID:11884389|PMID:14672715|PMID:15318349|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17556197|PMID:18509671|PMID:19380584|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26467025|PMID:26498160|PMID:27483260|PMID:27930701|PMID:28492532|PMID:29961767|PMID:30055862|PMID:9536092 11951361 CAV3 caveolin 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1344208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11951361 CAV3 caveolin 3 gene DOID:1682 congenital heart disease ISO RGD:1344208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21082655 11951361 CAV3 caveolin 3 gene DOID:2843 long QT syndrome ISO RGD:1344208 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:09536092|PMID:10227634|PMID:10746614|PMID:11001938|PMID:11251997|PMID:11353417|PMID:11431690|PMID:1146501|PMID:11756609|PMID:11805270|PMID:11884389|PMID:12269726|PMID:12666119|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:14647208|PMID:14672715|PMID:15099591|PMID:15318349|PMID:15564037|PMID:15580566|PMID:15668980|PMID:16723230|PMID:16730439|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:17405141|PMID:17537631|PMID:17556197|PMID:17576681|PMID:17897828|PMID:17994539|PMID:18253147|PMID:18487559|PMID:18509671|PMID:18583131|PMID:18606002|PMID:18671188|PMID:18930476|PMID:19238754|PMID:19380584|PMID:19697367|PMID:19726876|PMID:19773168|PMID:20229577|PMID:20472890|PMID:21182936|PMID:21294223|PMID:21404291|PMID:21610159|PMID:21660982|PMID:22245016|PMID:22378279|PMID:22581547|PMID:22584458|PMID:22595201|PMID:22976939|PMID:23465283|PMID:23631430|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:24917393|PMID:25351510|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26132555|PMID:26159999|PMID:26185955|PMID:26404900|PMID:26467025|PMID:26498160|PMID:26947586|PMID:27061274|PMID:27066573|PMID:27184587|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27772553|PMID:27854218|PMID:27930701|PMID:28232187|PMID:28407228|PMID:28492532|PMID:28807458|PMID:28810874|PMID:28837624|PMID:28877744|PMID:28898996|PMID:28981925|PMID:29396561|PMID:29501670|PMID:29961767|PMID:29970176|PMID:30055862|PMID:30153853|PMID:30174172|PMID:30564623|PMID:30704477|PMID:30723005|PMID:30847666|PMID:31036801|PMID:31043699|PMID:31127727|PMID:31638414|PMID:31737537|PMID:32004987|PMID:32419263|PMID:32528171|PMID:9536092|PMID:9536098|PMID:9537420 11951361 CAV3 caveolin 3 gene DOID:5844 myocardial infarction ISO RGD:2281 D RGD:9068941 20200609 RGD Protein:increased expression:cytosol PMID:12566108|REF_RGD_ID:1599542 11951361 CAV3 caveolin 3 gene DOID:5844 myocardial infarction ISO RGD:2281 D RGD:9068941 20210521 RGD mRNA, protein; increased expression; myocardium (rat) PMID:29438664|REF_RGD_ID:126925221 11951361 CAV3 caveolin 3 gene DOID:630 genetic disease ISO RGD:1344208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951361 CAV3 caveolin 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis onset ISO RGD:2281 D RGD:9068941 20200609 RGD Protein:increased expression:spinal cord, astrocyte PMID:15925413|REF_RGD_ID:1582168 11951361 CAV3 caveolin 3 gene DOID:9003129 Chromosome 3, Monosomy 3p25 ISO RGD:1344208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21082655 11951361 CAV3 caveolin 3 gene DOID:9003936 Cardiomegaly ISO RGD:1344208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19299911 11951361 CAV3 caveolin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11951361 CAV3 caveolin 3 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1344208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:14672715|PMID:15318349|PMID:17556197|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 11951361 CAV3 caveolin 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1344208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18266981 11951361 CAV3 caveolin 3 gene DOID:9007 sudden infant death syndrome ISO RGD:1344208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:12666119|PMID:15580566|PMID:25741868|PMID:28492532 11951361 CAV3 caveolin 3 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1344208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 11951361 CAV3 caveolin 3 gene DOID:9884 muscular dystrophy susceptibility ISO RGD:1344208 D RGD:9068941 20200609 RGD DNA:missense mutation, deletion PMID:9537420|REF_RGD_ID:1599529 11951370 MSANTD4 Myb/SANT DNA binding domain containing 4 with coiled-coils gene DOID:1059 intellectual disability ISO RGD:1603604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11951370 MSANTD4 Myb/SANT DNA binding domain containing 4 with coiled-coils gene DOID:12704 ataxia telangiectasia ISO RGD:1603604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11951370 MSANTD4 Myb/SANT DNA binding domain containing 4 with coiled-coils gene DOID:630 genetic disease ISO RGD:1603604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951370 MSANTD4 Myb/SANT DNA binding domain containing 4 with coiled-coils gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11951393 PAWR pro-apoptotic WT1 regulator gene DOID:10652 Alzheimer's disease ISO RGD:69120 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brain: PMID:9701251|REF_RGD_ID:9835364 11951393 PAWR pro-apoptotic WT1 regulator gene DOID:11832 visual epilepsy ISO RGD:69065 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus: PMID:10349840|REF_RGD_ID:9835366 11951393 PAWR pro-apoptotic WT1 regulator gene DOID:1470 major depressive disorder ISO RGD:69120 D RGD:9068941 20200609 RGD protein:decreased expression:brain: PMID:20067857|REF_RGD_ID:9835359 11951393 PAWR pro-apoptotic WT1 regulator gene DOID:1596 depressive disorder ISO RGD:69065 D RGD:9068941 20200609 RGD mRNA:decreased expression:striatum PMID:21596067|REF_RGD_ID:6907449 11951393 PAWR pro-apoptotic WT1 regulator gene DOID:224 transient cerebral ischemia ISO RGD:69065 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:14705148|REF_RGD_ID:1302269 11951393 PAWR pro-apoptotic WT1 regulator gene DOID:224 transient cerebral ischemia ISO RGD:737403 D RGD:9068941 20200609 RGD protein:increased expression:cortex,striatum: PMID:11323519|REF_RGD_ID:9835381 11951393 PAWR pro-apoptotic WT1 regulator gene DOID:299 adenocarcinoma ISO RGD:69120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15877079 11951393 PAWR pro-apoptotic WT1 regulator gene DOID:3525 middle cerebral artery infarction ISO RGD:69065 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:19352052|REF_RGD_ID:9850083 11951393 PAWR pro-apoptotic WT1 regulator gene DOID:3525 middle cerebral artery infarction ISO RGD:737403 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:16403464|REF_RGD_ID:9835380 11951393 PAWR pro-apoptotic WT1 regulator gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:737403 D RGD:9068941 20200609 RGD PMID:11323519|REF_RGD_ID:9835381 11951393 PAWR pro-apoptotic WT1 regulator gene DOID:4947 cholangiocarcinoma ISO RGD:69120 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:cholangiocyte: PMID:20724592|REF_RGD_ID:9835357 11951393 PAWR pro-apoptotic WT1 regulator gene DOID:630 genetic disease ISO RGD:69120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951393 PAWR pro-apoptotic WT1 regulator gene DOID:9000998 Brain Injuries ISO RGD:69065 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brain: PMID:11421591|REF_RGD_ID:9835358 11951393 PAWR pro-apoptotic WT1 regulator gene DOID:9002211 Hyperalgesia treatment ISO RGD:69065 D RGD:9068941 20200609 RGD PMID:17179954|REF_RGD_ID:9835416 11951393 PAWR pro-apoptotic WT1 regulator gene DOID:9002304 Prostatic Neoplasms ISO RGD:69120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15877079 11951393 PAWR pro-apoptotic WT1 regulator gene DOID:9004610 Acute Lung Injury ISO RGD:69065 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung,blood vessel: PMID:17136598|REF_RGD_ID:9835397 11951393 PAWR pro-apoptotic WT1 regulator gene DOID:9007715 Endometrial Neoplasms ISO RGD:69120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15877079 11951393 PAWR pro-apoptotic WT1 regulator gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:69065 D RGD:9068941 20200609 RGD PMID:18055876|REF_RGD_ID:9835369 11951393 PAWR pro-apoptotic WT1 regulator gene DOID:9008091 Optic Nerve Injuries ISO RGD:69065 D RGD:9068941 20200609 RGD mRNA:increased expression:retina: PMID:12836167|REF_RGD_ID:1299297 11951404 ZBTB49 zinc finger and BTB domain containing 49 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1315520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 11951404 ZBTB49 zinc finger and BTB domain containing 49 gene DOID:630 genetic disease ISO RGD:1315520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951427 TRPM2 transient receptor potential cation channel subfamily M member 2 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1323582 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 11951427 TRPM2 transient receptor potential cation channel subfamily M member 2 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1323582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11951427 TRPM2 transient receptor potential cation channel subfamily M member 2 gene DOID:0080600 COVID-19 ISO RGD:1323582 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11951427 TRPM2 transient receptor potential cation channel subfamily M member 2 gene DOID:0110266 cataract 9 multiple types ISO RGD:1323582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11951427 TRPM2 transient receptor potential cation channel subfamily M member 2 gene DOID:12849 autistic disorder ISO RGD:1323582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11951427 TRPM2 transient receptor potential cation channel subfamily M member 2 gene DOID:14330 Parkinson's disease ISO RGD:1323582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27957685 11951427 TRPM2 transient receptor potential cation channel subfamily M member 2 gene DOID:224 transient cerebral ischemia ISO RGD:1311889 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:16777714|REF_RGD_ID:10003026 11951427 TRPM2 transient receptor potential cation channel subfamily M member 2 gene DOID:3312 bipolar disorder ISO RGD:1323582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23602965 11951427 TRPM2 transient receptor potential cation channel subfamily M member 2 gene DOID:630 genetic disease ISO RGD:1323582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951427 TRPM2 transient receptor potential cation channel subfamily M member 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1323582 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11951427 TRPM2 transient receptor potential cation channel subfamily M member 2 gene DOID:9000998 Brain Injuries ISO RGD:1311889 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex, hippocampus PMID:20309649|REF_RGD_ID:9999437 11951427 TRPM2 transient receptor potential cation channel subfamily M member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11951427 TRPM2 transient receptor potential cation channel subfamily M member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1558477 D RGD:9068941 20200609 RGD PMID:24569808|REF_RGD_ID:9999438 11951427 TRPM2 transient receptor potential cation channel subfamily M member 2 gene DOID:9263 homocystinuria ISO RGD:1323582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11951427 TRPM2 transient receptor potential cation channel subfamily M member 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1323582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11951475 KCNMB2 potassium calcium-activated channel subfamily M regulatory beta subunit 2 gene DOID:0111546 Currarino syndrome ISO RGD:1343870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11951475 KCNMB2 potassium calcium-activated channel subfamily M regulatory beta subunit 2 gene DOID:630 genetic disease ISO RGD:1343870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951495 RIF1 replication timing regulatory factor 1 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1352449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:25741868|PMID:28492532 11951495 RIF1 replication timing regulatory factor 1 gene DOID:0070336 arthrogryposis multiplex congenita-6 ISO RGD:1352449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 6 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 11951495 RIF1 replication timing regulatory factor 1 gene DOID:0110928 nemaline myopathy 2 ISO RGD:1352449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:10051637|PMID:10931867|PMID:11309420|PMID:11851340|PMID:11994971|PMID:12207938|PMID:15266303|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18414213|PMID:19339519|PMID:19805734|PMID:21148390|PMID:21520333|PMID:22941678|PMID:23443021|PMID:23726790|PMID:24033266|PMID:24046450|PMID:24056153|PMID:24725366|PMID:24972929|PMID:25110572|PMID:25205138|PMID:25296583|PMID:25332755|PMID:25356970|PMID:25525159|PMID:25589042|PMID:25589043|PMID:25740301|PMID:25741868|PMID:26019235|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26562614|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27066551|PMID:27105866|PMID:27357428|PMID:27884173|PMID:28132693|PMID:28492532|PMID:29246625|PMID:29382405|PMID:29389947|PMID:29669168|PMID:29689380|PMID:29754767|PMID:29947179|PMID:29961767|PMID:30057997|PMID:30265400|PMID:30467404|PMID:30517146|PMID:30950222|PMID:31230720|PMID:31256874|PMID:31965297|PMID:32222963|PMID:33442022|PMID:34440373|PMID:7739042|PMID:9536098 11951495 RIF1 replication timing regulatory factor 1 gene DOID:3191 nemaline myopathy ISO RGD:1352449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Recessive | ClinVar Annotator: match by term: Nemaline myopathy PMID:12207938|PMID:15336686|PMID:16199547|PMID:16917880|PMID:19805734|PMID:23443021|PMID:24056153|PMID:25205138|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26019235|PMID:26403434|PMID:26467025|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27105866|PMID:28132693|PMID:28492532|PMID:29246625|PMID:29389947|PMID:29669168|PMID:30057997|PMID:30467404|PMID:31230720|PMID:32222963|PMID:33442022 11951495 RIF1 replication timing regulatory factor 1 gene DOID:574 peripheral nervous system disease ISO RGD:1352449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 11951495 RIF1 replication timing regulatory factor 1 gene DOID:630 genetic disease ISO RGD:1352449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19339519|PMID:23726790|PMID:24033266|PMID:24725366|PMID:25205138|PMID:25356970|PMID:25741868|PMID:26467025|PMID:26562614|PMID:28492532|PMID:32222963|PMID:9536098 11951495 RIF1 replication timing regulatory factor 1 gene DOID:870 neuropathy ISO RGD:1352449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 11951495 RIF1 replication timing regulatory factor 1 gene DOID:9000123 Deglutition Disorders ISO RGD:1352449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysphagia PMID:24056153|PMID:25205138|PMID:25741868|PMID:28492532 11951495 RIF1 replication timing regulatory factor 1 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1352449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:25741868|PMID:28492532 11951495 RIF1 replication timing regulatory factor 1 gene DOID:9884 muscular dystrophy ISO RGD:1352449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:25205138|PMID:25741868|PMID:28492532 11951588 MACC1 MET transcriptional regulator MACC1 gene DOID:0080600 COVID-19 ISO RGD:1602631 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11951588 MACC1 MET transcriptional regulator MACC1 gene DOID:4362 cervical cancer ISO RGD:1602631 D RGD:9068941 20220721 RGD mRNA:increased expression:cervical region (human) PMID:33603486|REF_RGD_ID:152999025 11951588 MACC1 MET transcriptional regulator MACC1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11951588 MACC1 MET transcriptional regulator MACC1 gene DOID:630 genetic disease ISO RGD:1602631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951588 MACC1 MET transcriptional regulator MACC1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1602631 D RGD:9068941 20220616 RGD associated with stomach cancer; human cells in mouse model PMID:27431311|REF_RGD_ID:152995400 11951615 CRP C-reactive protein gene DOID:0014667 disease of metabolism ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19131468 11951615 CRP C-reactive protein gene DOID:0050117 disease by infectious agent ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3285537 11951615 CRP C-reactive protein gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:736633 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 11951615 CRP C-reactive protein gene DOID:0050452 mevalonic aciduria disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:7780142|REF_RGD_ID:9585642 11951615 CRP C-reactive protein gene DOID:0050589 inflammatory bowel disease ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:22483567|REF_RGD_ID:6482301 11951615 CRP C-reactive protein gene DOID:0050848 obstructive sleep apnea ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:21493247|REF_RGD_ID:5131290 11951615 CRP C-reactive protein gene DOID:0050855 renal fibrosis ISO RGD:10398 D RGD:9068941 20200609 RGD associated with ureteral obstruction PMID:21383672|REF_RGD_ID:6907431 11951615 CRP C-reactive protein gene DOID:0050855 renal fibrosis onset ISO RGD:736633 D RGD:9068941 20200609 RGD associated with ureteral obstruction PMID:21383672|REF_RGD_ID:6907431 11951615 CRP C-reactive protein gene DOID:0050864 non-arteritic anterior ischemic optic neuropathy ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:blood: PMID:15206651|REF_RGD_ID:9491785 11951615 CRP C-reactive protein gene DOID:0060001 withdrawal disorder ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12858318 11951615 CRP C-reactive protein gene DOID:0060224 atrial fibrillation disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:18811807|REF_RGD_ID:9491838 11951615 CRP C-reactive protein gene DOID:0060224 atrial fibrillation disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Idiopathic dilation cardiomyopathy;protein:increased expression:plasma: PMID:19645035|REF_RGD_ID:9491839 11951615 CRP C-reactive protein gene DOID:0060322 mastoiditis disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:22578647|REF_RGD_ID:9491592 11951615 CRP C-reactive protein gene DOID:0060903 thrombosis ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16931792 11951615 CRP C-reactive protein gene DOID:0070355 overactive bladder syndrome ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21284020|REF_RGD_ID:6907432 11951615 CRP C-reactive protein gene DOID:0080162 lupus nephritis ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:15692982|PMID:18852001|REF_RGD_ID:6907400|REF_RGD_ID:6909145 11951615 CRP C-reactive protein gene DOID:0080162 lupus nephritis no_association ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:20039408|REF_RGD_ID:6909146 11951615 CRP C-reactive protein gene DOID:0080600 COVID-19 ISO RGD:736633 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:32534021 11951615 CRP C-reactive protein gene DOID:0080600 COVID-19 disease_progression ISO RGD:736633 D RGD:9068941 20200618 RGD associated with diabetes mellitus PMID:32345579|REF_RGD_ID:30296681 11951615 CRP C-reactive protein gene DOID:0080600 COVID-19 severity ISO RGD:736633 D RGD:9068941 20200618 RGD PMID:32198776|REF_RGD_ID:30296673 11951615 CRP C-reactive protein gene DOID:0080600 COVID-19 severity ISO RGD:736633 D RGD:9068941 20200625 RGD associated with cardiovascular system disease;protein:increased expression:blood (human) PMID:32456948|REF_RGD_ID:30309957 11951615 CRP C-reactive protein gene DOID:0080600 COVID-19 severity ISO RGD:736633 D RGD:9068941 20200625 RGD associated with hyperglycemia;protein:increased expression:serum (human) PMID:32406594|REF_RGD_ID:32698682 11951615 CRP C-reactive protein gene DOID:0080600 COVID-19 severity ISO RGD:736633 D RGD:9068941 20200625 RGD protein:increased expression:blood (human) PMID:32181911|REF_RGD_ID:30310230 11951615 CRP C-reactive protein gene DOID:0080600 COVID-19 severity ISO RGD:736633 D RGD:9068941 20200625 RGD protein:increased expression:plasma (human) PMID:32417135|REF_RGD_ID:30310235 11951615 CRP C-reactive protein gene DOID:0080600 COVID-19 severity ISO RGD:736633 D RGD:9068941 20200625 RGD protein:increased expression:serum (human) PMID:32125452|PMID:32227274|PMID:32365221|PMID:32427582|PMID:32434211|REF_RGD_ID:27095965|REF_RGD_ID:27226695|REF_RGD_ID:30309200|REF_RGD_ID:30310229|REF_RGD_ID:30310238 11951615 CRP C-reactive protein gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:736633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11951615 CRP C-reactive protein gene DOID:1003 pelvic inflammatory disease ISO RGD:736633 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:21679133|REF_RGD_ID:38508897 11951615 CRP C-reactive protein gene DOID:104 bacterial infectious disease ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:23937512|REF_RGD_ID:9495911 11951615 CRP C-reactive protein gene DOID:1063 interstitial nephritis ISO RGD:10398 D RGD:9068941 20200609 RGD associated with ureteral obstruction PMID:21383672|REF_RGD_ID:6907431 11951615 CRP C-reactive protein gene DOID:1063 interstitial nephritis ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17014549 11951615 CRP C-reactive protein gene DOID:1063 interstitial nephritis onset ISO RGD:736633 D RGD:9068941 20200609 RGD associated with ureteral obstruction PMID:21383672|REF_RGD_ID:6907431 11951615 CRP C-reactive protein gene DOID:10652 Alzheimer's disease ISO RGD:10398 D RGD:9068941 20200609 RGD PMID:22202667|REF_RGD_ID:6904208 11951615 CRP C-reactive protein gene DOID:1073 renal hypertension ISO RGD:2411 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22188107|REF_RGD_ID:6907405 11951615 CRP C-reactive protein gene DOID:1074 kidney failure severity ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell; protein:increased expression:serum PMID:20710104|REF_RGD_ID:6907441 11951615 CRP C-reactive protein gene DOID:10754 otitis media treatment ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:7724300|REF_RGD_ID:9491381 11951615 CRP C-reactive protein gene DOID:10763 hypertension ISO RGD:2411 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19905982|REF_RGD_ID:5131461 11951615 CRP C-reactive protein gene DOID:10763 hypertension ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14620923|PMID:16680063|PMID:19770776|PMID:20667508 11951615 CRP C-reactive protein gene DOID:10763 hypertension ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:19056836|REF_RGD_ID:9586008 11951615 CRP C-reactive protein gene DOID:10763 hypertension ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:6720266|REF_RGD_ID:9491754 11951615 CRP C-reactive protein gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:17400294|REF_RGD_ID:9491775 11951615 CRP C-reactive protein gene DOID:10873 Kuhnt-Junius degeneration treatment ISO RGD:736633 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2808635,rs876538(human) PMID:19692124|REF_RGD_ID:9491756 11951615 CRP C-reactive protein gene DOID:114 heart disease ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17388968 11951615 CRP C-reactive protein gene DOID:114 heart disease ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:11857055|REF_RGD_ID:1580259 11951615 CRP C-reactive protein gene DOID:11400 pyelonephritis ISO RGD:2411 D RGD:9068941 20200609 RGD PMID:21797109|REF_RGD_ID:6482315 11951615 CRP C-reactive protein gene DOID:11561 hypertensive retinopathy ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:blood: PMID:21091359|REF_RGD_ID:9491786 11951615 CRP C-reactive protein gene DOID:1168 familial hyperlipidemia ISO RGD:2411 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:24308182|REF_RGD_ID:8695929 11951615 CRP C-reactive protein gene DOID:11758 iron deficiency anemia ISO RGD:2411 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19730160|REF_RGD_ID:5131463 11951615 CRP C-reactive protein gene DOID:12365 malaria ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8730300 11951615 CRP C-reactive protein gene DOID:12466 secondary hyperparathyroidism ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21350317 11951615 CRP C-reactive protein gene DOID:12683 vestibular neuronitis disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:14636287|REF_RGD_ID:9491594 11951615 CRP C-reactive protein gene DOID:1287 cardiovascular system disease ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12876635|PMID:16332659|PMID:29114965 11951615 CRP C-reactive protein gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:20412290|REF_RGD_ID:9491755 11951615 CRP C-reactive protein gene DOID:12894 Sjogren's syndrome ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:16013223|REF_RGD_ID:9491835 11951615 CRP C-reactive protein gene DOID:12894 Sjogren's syndrome ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid;protein:increased expression:serum: PMID:2353152|REF_RGD_ID:9491774 11951615 CRP C-reactive protein gene DOID:13241 Behcet's disease ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:plasma,erythrocyte: PMID:12180795|REF_RGD_ID:9491757 11951615 CRP C-reactive protein gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:21426633|REF_RGD_ID:5131292 11951615 CRP C-reactive protein gene DOID:13375 temporal arteritis ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:blood: PMID:15206651|REF_RGD_ID:9491785 11951615 CRP C-reactive protein gene DOID:13378 Kawasaki disease susceptibility ISO RGD:736633 D RGD:9068941 20200609 RGD DNA:SNP: :1444 C-->T(human) PMID:18710885|REF_RGD_ID:9495921 11951615 CRP C-reactive protein gene DOID:13406 pulmonary sarcoidosis severity ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:21086905|REF_RGD_ID:5131289 11951615 CRP C-reactive protein gene DOID:13544 low tension glaucoma ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:16148587|REF_RGD_ID:9491770 11951615 CRP C-reactive protein gene DOID:13544 low tension glaucoma no_association ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:22966842|REF_RGD_ID:9491771 11951615 CRP C-reactive protein gene DOID:13564 aspergillosis treatment ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:20879853|REF_RGD_ID:9495929 11951615 CRP C-reactive protein gene DOID:13801 pharyngoconjunctival fever ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:17876605|REF_RGD_ID:9491593 11951615 CRP C-reactive protein gene DOID:13949 interstitial cystitis ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21284020|REF_RGD_ID:6907432 11951615 CRP C-reactive protein gene DOID:14018 alcoholic liver cirrhosis severity ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:22441510|REF_RGD_ID:6482305 11951615 CRP C-reactive protein gene DOID:14330 Parkinson's disease ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:22426659|REF_RGD_ID:6482307 11951615 CRP C-reactive protein gene DOID:1474 aggressive periodontitis ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:16013223|REF_RGD_ID:9491835 11951615 CRP C-reactive protein gene DOID:1540 parathyroid carcinoma ISO RGD:736633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11951615 CRP C-reactive protein gene DOID:1555 urticaria ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22348297|REF_RGD_ID:6482310 11951615 CRP C-reactive protein gene DOID:1596 depressive disorder ISO RGD:736633 D RGD:9068941 20200609 RGD associated with kidney failure, chronic; protein:increased expression:plasma PMID:22972567|REF_RGD_ID:6904211 11951615 CRP C-reactive protein gene DOID:1612 breast cancer ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:nipple aspirate fluid PMID:21139810|REF_RGD_ID:9491787 11951615 CRP C-reactive protein gene DOID:1727 retinal vein occlusion ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:6720266|REF_RGD_ID:9491754 11951615 CRP C-reactive protein gene DOID:1824 status epilepticus ISO RGD:2411 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:23398413|REF_RGD_ID:9586015 11951615 CRP C-reactive protein gene DOID:1936 atherosclerosis ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16931792 11951615 CRP C-reactive protein gene DOID:1936 atherosclerosis disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:18535598|REF_RGD_ID:9491769 11951615 CRP C-reactive protein gene DOID:2030 anxiety disorder ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20194079 11951615 CRP C-reactive protein gene DOID:2030 anxiety disorder ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Coronary Disease; PMID:18603621|REF_RGD_ID:9491832 11951615 CRP C-reactive protein gene DOID:219 colon cancer ISO RGD:2411 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:23008118|REF_RGD_ID:6903278 11951615 CRP C-reactive protein gene DOID:2841 asthma ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21140796|REF_RGD_ID:5131288 11951615 CRP C-reactive protein gene DOID:2942 bronchiolitis severity ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:21284715|REF_RGD_ID:5131282 11951615 CRP C-reactive protein gene DOID:2957 pulmonary tuberculosis ISO RGD:736633 D RGD:9068941 20200609 RGD associated with HIV Infections PMID:21197091|REF_RGD_ID:5131287 11951615 CRP C-reactive protein gene DOID:2957 pulmonary tuberculosis severity ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:21219690|REF_RGD_ID:5131284 11951615 CRP C-reactive protein gene DOID:2988 antiphospholipid syndrome ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:17014014|REF_RGD_ID:6907402 11951615 CRP C-reactive protein gene DOID:3021 acute kidney failure ISO RGD:2411 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22551254|REF_RGD_ID:6903282 11951615 CRP C-reactive protein gene DOID:3021 acute kidney failure ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Myocardial Infarction; PMID:22694718|REF_RGD_ID:6906888 11951615 CRP C-reactive protein gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29329563 11951615 CRP C-reactive protein gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21506665|REF_RGD_ID:5131278 11951615 CRP C-reactive protein gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21468168|REF_RGD_ID:5131279 11951615 CRP C-reactive protein gene DOID:3393 coronary artery disease ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24868163 11951615 CRP C-reactive protein gene DOID:3393 coronary artery disease ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum PMID:19615354|REF_RGD_ID:2313344 11951615 CRP C-reactive protein gene DOID:3459 breast carcinoma severity ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:14648971|REF_RGD_ID:9585643 11951615 CRP C-reactive protein gene DOID:3525 middle cerebral artery infarction ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:15545914|REF_RGD_ID:9585995 11951615 CRP C-reactive protein gene DOID:403 mouth disease ISO RGD:2411 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21625744|REF_RGD_ID:6482317 11951615 CRP C-reactive protein gene DOID:4448 macular degeneration ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:16225921|REF_RGD_ID:9491760 11951615 CRP C-reactive protein gene DOID:4448 macular degeneration susceptibility ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:20346514|REF_RGD_ID:9491758 11951615 CRP C-reactive protein gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:22958305|REF_RGD_ID:6904212 11951615 CRP C-reactive protein gene DOID:5082 liver cirrhosis ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;protein:decreased expression:serum PMID:21806828|REF_RGD_ID:9491781 11951615 CRP C-reactive protein gene DOID:526 human immunodeficiency virus infectious disease disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:22448211|REF_RGD_ID:6482303 11951615 CRP C-reactive protein gene DOID:552 pneumonia disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:21439658|REF_RGD_ID:5131291 11951615 CRP C-reactive protein gene DOID:552 pneumonia severity ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:21258955|REF_RGD_ID:5131283 11951615 CRP C-reactive protein gene DOID:5844 myocardial infarction ISO RGD:2411 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21046814|REF_RGD_ID:5131456 11951615 CRP C-reactive protein gene DOID:5844 myocardial infarction ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:22446866|REF_RGD_ID:6482304 11951615 CRP C-reactive protein gene DOID:5844 myocardial infarction ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Angina, Unstable; PMID:9761079|REF_RGD_ID:9491780 11951615 CRP C-reactive protein gene DOID:6000 congestive heart failure ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16360360 11951615 CRP C-reactive protein gene DOID:6039 uveal melanoma disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:23057648|REF_RGD_ID:9491834 11951615 CRP C-reactive protein gene DOID:6088 acute stress disorder ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:19628221|REF_RGD_ID:9585647 11951615 CRP C-reactive protein gene DOID:630 genetic disease ISO RGD:736633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951615 CRP C-reactive protein gene DOID:6432 pulmonary hypertension ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive PMID:22333502|REF_RGD_ID:6482312 11951615 CRP C-reactive protein gene DOID:6713 cerebrovascular disease ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29114965 11951615 CRP C-reactive protein gene DOID:676 juvenile rheumatoid arthritis ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22885951|REF_RGD_ID:6906884 11951615 CRP C-reactive protein gene DOID:684 hepatocellular carcinoma ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 11951615 CRP C-reactive protein gene DOID:7147 ankylosing spondylitis ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:6605119|REF_RGD_ID:9491788 11951615 CRP C-reactive protein gene DOID:7147 ankylosing spondylitis disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:22422197|REF_RGD_ID:6482308 11951615 CRP C-reactive protein gene DOID:7148 rheumatoid arthritis ISO RGD:2411 D RGD:9068941 20200609 RGD PMID:22173958|REF_RGD_ID:6904209 11951615 CRP C-reactive protein gene DOID:7148 rheumatoid arthritis ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1568518 11951615 CRP C-reactive protein gene DOID:7148 rheumatoid arthritis ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22173958|REF_RGD_ID:6904209 11951615 CRP C-reactive protein gene DOID:7693 abdominal aortic aneurysm ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:30004237|REF_RGD_ID:13782270 11951615 CRP C-reactive protein gene DOID:783 end stage renal disease ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19539174 11951615 CRP C-reactive protein gene DOID:783 end stage renal disease disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22865783|REF_RGD_ID:6906886 11951615 CRP C-reactive protein gene DOID:820 myocarditis ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20361910 11951615 CRP C-reactive protein gene DOID:824 periodontitis ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20011938 11951615 CRP C-reactive protein gene DOID:853 polymyalgia rheumatica treatment ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:2859021|REF_RGD_ID:9495925 11951615 CRP C-reactive protein gene DOID:8778 Crohn's disease ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11339241 11951615 CRP C-reactive protein gene DOID:8778 Crohn's disease severity ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22421709|REF_RGD_ID:6482309 11951615 CRP C-reactive protein gene DOID:8805 intermediate coronary syndrome disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:9761079|REF_RGD_ID:9491780 11951615 CRP C-reactive protein gene DOID:8893 psoriasis ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12559600 11951615 CRP C-reactive protein gene DOID:8893 psoriasis ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:22503884|REF_RGD_ID:6482313 11951615 CRP C-reactive protein gene DOID:8893 psoriasis treatment ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:22754198|REF_RGD_ID:9495927 11951615 CRP C-reactive protein gene DOID:8947 diabetic retinopathy ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20012460 11951615 CRP C-reactive protein gene DOID:8947 diabetic retinopathy ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:20012460|REF_RGD_ID:8547537 11951615 CRP C-reactive protein gene DOID:9000039 Spinal Cord Injuries ISO RGD:2411 D RGD:9068941 20200609 RGD PMID:22404382|REF_RGD_ID:6903321 11951615 CRP C-reactive protein gene DOID:9000064 Cardiac Arrhythmias ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:blood: PMID:11739301|REF_RGD_ID:9495908 11951615 CRP C-reactive protein gene DOID:9000081 Lymphatic Metastasis susceptibility ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Breast Neoplasm; DNA:polymorphism: :1846C>T(rs1205)(human) PMID:24633920|REF_RGD_ID:9580226 11951615 CRP C-reactive protein gene DOID:9000998 Brain Injuries disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:24456846|REF_RGD_ID:9585646 11951615 CRP C-reactive protein gene DOID:9001488 Human Influenza ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21509252|REF_RGD_ID:5131277 11951615 CRP C-reactive protein gene DOID:9001542 Albuminuria ISO RGD:736633 D RGD:9068941 20200609 RGD associated with hypertension PMID:20016210|REF_RGD_ID:6909147 11951615 CRP C-reactive protein gene DOID:9001542 Albuminuria severity ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell; protein:increased expression:serum PMID:20710104|REF_RGD_ID:6907441 11951615 CRP C-reactive protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2411 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:21806828|REF_RGD_ID:9491781 11951615 CRP C-reactive protein gene DOID:9001686 Acute Coronary Syndrome ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15966572|PMID:23305094 11951615 CRP C-reactive protein gene DOID:9001686 Acute Coronary Syndrome ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:18973750|REF_RGD_ID:6907401 11951615 CRP C-reactive protein gene DOID:9001686 Acute Coronary Syndrome ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:21794939|REF_RGD_ID:9491837 11951615 CRP C-reactive protein gene DOID:9002106 Pneumococcal Pneumonia disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:21281676|REF_RGD_ID:5131293 11951615 CRP C-reactive protein gene DOID:9002165 Diabetic Nephropathies ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:urine PMID:22590912|REF_RGD_ID:6906967 11951615 CRP C-reactive protein gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1 PMID:22885250|REF_RGD_ID:6906965 11951615 CRP C-reactive protein gene DOID:9002274 Renal Colic ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Urolithiasis; PMID:20206981|REF_RGD_ID:6909142 11951615 CRP C-reactive protein gene DOID:9002457 Experimental Arthritis ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19330884 11951615 CRP C-reactive protein gene DOID:9002669 Hypoxia ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Influenza PMID:21199168|REF_RGD_ID:5131285 11951615 CRP C-reactive protein gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:20220110|REF_RGD_ID:9585994 11951615 CRP C-reactive protein gene DOID:9004017 Chronic Hepatitis C ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:22333691|REF_RGD_ID:6482311 11951615 CRP C-reactive protein gene DOID:9004484 Sepsis ISO RGD:2411 D RGD:9068941 20200609 RGD PMID:21797109|REF_RGD_ID:6482315 11951615 CRP C-reactive protein gene DOID:9004484 Sepsis ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:blood: PMID:19060982|REF_RGD_ID:9491784 11951615 CRP C-reactive protein gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Lupus Nephritis; protein:increased expression:serum PMID:21076530|REF_RGD_ID:6907433 11951615 CRP C-reactive protein gene DOID:9005036 Bacteremia ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:18443549|REF_RGD_ID:9491402 11951615 CRP C-reactive protein gene DOID:9005171 Acute Uveitis ISO RGD:2411 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:24697218|REF_RGD_ID:9491782 11951615 CRP C-reactive protein gene DOID:9005171 Acute Uveitis ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:11914210|REF_RGD_ID:9491833 11951615 CRP C-reactive protein gene DOID:9005172 Lung Neoplasms ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17114654 11951615 CRP C-reactive protein gene DOID:9005372 Inflammation ISO RGD:736633 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Inflammation 11951615 CRP C-reactive protein gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10398 D RGD:9068941 20200609 RGD PMID:21736794|REF_RGD_ID:6907422 11951615 CRP C-reactive protein gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2411 D RGD:9068941 20200609 RGD PMID:21736771|REF_RGD_ID:6482316 11951615 CRP C-reactive protein gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:736633 D RGD:9068941 20200609 RGD associated with coronary disease; PMID:23102387|REF_RGD_ID:6909166 11951615 CRP C-reactive protein gene DOID:9006404 Tubulointerstitial Nephritis and Uveitis disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:20813859|REF_RGD_ID:6907435 11951615 CRP C-reactive protein gene DOID:9006599 Hypertriglyceridemia ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11893366 11951615 CRP C-reactive protein gene DOID:9006646 Metabolic Syndrome ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16644639 11951615 CRP C-reactive protein gene DOID:9006646 Metabolic Syndrome ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:21357282|REF_RGD_ID:6482318 11951615 CRP C-reactive protein gene DOID:9006865 Fever of Unknown Origin ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:7506886|REF_RGD_ID:9491382 11951615 CRP C-reactive protein gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:2411 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21806828|REF_RGD_ID:9491781 11951615 CRP C-reactive protein gene DOID:9007102 Myocardial Ischemia ISO RGD:2411 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21122204|REF_RGD_ID:5128547 11951615 CRP C-reactive protein gene DOID:9007102 Myocardial Ischemia ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11840375 11951615 CRP C-reactive protein gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11951615 CRP C-reactive protein gene DOID:9007417 Pseudomonas Infections ISO RGD:2411 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:19561148|REF_RGD_ID:5131464 11951615 CRP C-reactive protein gene DOID:9007417 Pseudomonas Infections ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1; PMID:22864910|REF_RGD_ID:6906966 11951615 CRP C-reactive protein gene DOID:9007730 Burns ISO RGD:2411 D RGD:9068941 20200609 RGD PMID:20664819|REF_RGD_ID:5131457 11951615 CRP C-reactive protein gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:2411 D RGD:9068941 20200609 RGD protein:increased expression:intestine: PMID:17981193|REF_RGD_ID:5129536 11951615 CRP C-reactive protein gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:736633 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 11951615 CRP C-reactive protein gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2411 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21122204|REF_RGD_ID:5128547 11951615 CRP C-reactive protein gene DOID:9007964 Arsenic Poisoning ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22521605 11951615 CRP C-reactive protein gene DOID:9008212 Diabetic Foot disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:blood: PMID:22712631|REF_RGD_ID:6906887 11951615 CRP C-reactive protein gene DOID:9008537 Polypoidal Choroidal Vasculopathy ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:17400294|REF_RGD_ID:9491775 11951615 CRP C-reactive protein gene DOID:9008652 Postoperative Atrial Fibrillation no_association ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:17383336|REF_RGD_ID:9495909 11951615 CRP C-reactive protein gene DOID:9008746 Pasteurellaceae Infections ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16755360 11951615 CRP C-reactive protein gene DOID:9065 leishmaniasis ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17218153 11951615 CRP C-reactive protein gene DOID:9074 systemic lupus erythematosus ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17718048 11951615 CRP C-reactive protein gene DOID:9074 systemic lupus erythematosus disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:17014014|REF_RGD_ID:6907402 11951615 CRP C-reactive protein gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:20039408|REF_RGD_ID:6909146 11951615 CRP C-reactive protein gene DOID:9074 systemic lupus erythematosus treatment ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:8261665|REF_RGD_ID:6909144 11951615 CRP C-reactive protein gene DOID:9146 visceral leishmaniasis ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10467834 11951615 CRP C-reactive protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11951615 CRP C-reactive protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:16764962|REF_RGD_ID:9491772 11951615 CRP C-reactive protein gene DOID:9463 otitis externa disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:22032882|REF_RGD_ID:9491591 11951615 CRP C-reactive protein gene DOID:9470 bacterial meningitis ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:6122844|REF_RGD_ID:9491388 11951615 CRP C-reactive protein gene DOID:9471 meningitis ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14513990 11951615 CRP C-reactive protein gene DOID:9744 type 1 diabetes mellitus ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20012460 11951615 CRP C-reactive protein gene DOID:9744 type 1 diabetes mellitus ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:22864910|REF_RGD_ID:6906966 11951615 CRP C-reactive protein gene DOID:9744 type 1 diabetes mellitus ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:20012460|REF_RGD_ID:8547537 11951615 CRP C-reactive protein gene DOID:9970 obesity ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24042701 11951615 CRP C-reactive protein gene DOID:9970 obesity ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20660932|REF_RGD_ID:5490970 11951615 CRP C-reactive protein gene DOID:9970 obesity disease_progression ISO RGD:2411 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:25612518|REF_RGD_ID:15045599 11951621 SPMIP6 sperm microtubule inner protein 6 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1322222 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11951621 SPMIP6 sperm microtubule inner protein 6 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1322222 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11951621 SPMIP6 sperm microtubule inner protein 6 gene DOID:0080942 anauxetic dysplasia ISO RGD:1322222 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11951621 SPMIP6 sperm microtubule inner protein 6 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1322222 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11951621 SPMIP6 sperm microtubule inner protein 6 gene DOID:630 genetic disease ISO RGD:1322222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951621 SPMIP6 sperm microtubule inner protein 6 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1322222 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11951621 SPMIP6 sperm microtubule inner protein 6 gene DOID:9870 galactosemia ISO RGD:1322222 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11951645 DHX32 DEAH-box helicase 32 (putative) gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1323353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11951645 DHX32 DEAH-box helicase 32 (putative) gene DOID:630 genetic disease ISO RGD:1323353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11951645 DHX32 DEAH-box helicase 32 (putative) gene DOID:9004547 Thyroid Neoplasms ISO RGD:1323353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:32989326 11951672 CCT5 chaperonin containing TCP1 subunit 5 gene DOID:0080600 COVID-19 ISO RGD:1354396 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11951672 CCT5 chaperonin containing TCP1 subunit 5 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1354396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28492532|PMID:28832565 11951672 CCT5 chaperonin containing TCP1 subunit 5 gene DOID:2477 motor peripheral neuropathy ISO RGD:1354396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensory Neuropathy with Spastic Paraplegia 11951672 CCT5 chaperonin containing TCP1 subunit 5 gene DOID:3910 lung adenocarcinoma ISO RGD:1354396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11951672 CCT5 chaperonin containing TCP1 subunit 5 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1354396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11951672 CCT5 chaperonin containing TCP1 subunit 5 gene DOID:630 genetic disease ISO RGD:1354396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11951672 CCT5 chaperonin containing TCP1 subunit 5 gene DOID:9000572 Hereditary Sensory Neuropathy with Spastic Paraplegia, Autosomal Recessive ISO RGD:1354396 D RGD:7240710 20180130 OMIM 11951672 CCT5 chaperonin containing TCP1 subunit 5 gene DOID:9000572 Hereditary Sensory Neuropathy with Spastic Paraplegia, Autosomal Recessive ISO RGD:1354396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive PMID:16399879|PMID:17576681|PMID:25124038|PMID:25345891|PMID:25741868|PMID:28492532|PMID:28623285|PMID:28832565|PMID:29552646|PMID:9536098 11951672 CCT5 chaperonin containing TCP1 subunit 5 gene DOID:9006205 Animal Disease Models ISO RGD:1354396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11951672 CCT5 chaperonin containing TCP1 subunit 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1354396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11951672 CCT5 chaperonin containing TCP1 subunit 5 gene DOID:9008939 Breast Neoplasms ISO RGD:1354396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 11951695 OTUD7B OTU deubiquitinase 7B gene DOID:0111940 immunodeficiency 42 ISO RGD:1352780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11951695 OTUD7B OTU deubiquitinase 7B gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1352780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11951695 OTUD7B OTU deubiquitinase 7B gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1352780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11951695 OTUD7B OTU deubiquitinase 7B gene DOID:1540 parathyroid carcinoma ISO RGD:1352780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11951695 OTUD7B OTU deubiquitinase 7B gene DOID:5812 MHC class II deficiency ISO RGD:1352780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11951695 OTUD7B OTU deubiquitinase 7B gene DOID:630 genetic disease ISO RGD:1352780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951695 OTUD7B OTU deubiquitinase 7B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11951712 ALKBH4 alkB homolog 4, lysine demethylase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11951712 ALKBH4 alkB homolog 4, lysine demethylase gene DOID:630 genetic disease ISO RGD:1603303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951713 DCX doublecortin gene DOID:0050453 lissencephaly ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:10369164|PMID:11175293|PMID:18414213|PMID:23365099|PMID:25741868|PMID:28492532|PMID:29671837 11951713 DCX doublecortin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11951713 DCX doublecortin gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 PMID:28492532 11951713 DCX doublecortin gene DOID:0111169 subcortical band heterotopia ISO RGD:1348637 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Subcortical band heterotopia PMID:10915612|PMID:25140959|PMID:25741868|PMID:28953922 11951713 DCX doublecortin gene DOID:0112239 X-linked lissencephaly 1 ISO RGD:1348637 D RGD:7240710 20210331 OMIM 11951713 DCX doublecortin gene DOID:0112239 X-linked lissencephaly 1 ISO RGD:1348637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lissencephaly type 1 due to doublecortin gene mutation PMID:10369164|PMID:10749977|PMID:11071144|PMID:11175293|PMID:11331616|PMID:11468322|PMID:12552055|PMID:12838518|PMID:17111359|PMID:18414213|PMID:18685874|PMID:22857951|PMID:23365099|PMID:25326635|PMID:25741868|PMID:25868952|PMID:28492532|PMID:29671837|PMID:29706646|PMID:30979500|PMID:32238909|PMID:35213059|PMID:9489699|PMID:9489700 11951713 DCX doublecortin gene DOID:11832 visual epilepsy ISO RGD:731627 D RGD:9068941 20200609 RGD PMID:18575605|REF_RGD_ID:12904723 11951713 DCX doublecortin gene DOID:11832 visual epilepsy onset ISO RGD:620670 D RGD:9068941 20200609 RGD associated with Subcortical Band Heterotopia, X-Linked PMID:20164125|REF_RGD_ID:12904732 11951713 DCX doublecortin gene DOID:12849 autistic disorder ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11951713 DCX doublecortin gene DOID:14500 fucosidosis ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fucosidosis PMID:25741868 11951713 DCX doublecortin gene DOID:1459 hypothyroidism ISO RGD:620670 D RGD:9068941 20200609 RGD protein:altered expression:cerebellum PMID:22595232|REF_RGD_ID:12904757 11951713 DCX doublecortin gene DOID:1826 epilepsy ISO RGD:1348637 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:17111359|PMID:18414213|PMID:25326635|PMID:25741868 11951713 DCX doublecortin gene DOID:3070 high grade glioma ISO RGD:731627 D RGD:9068941 20200609 RGD PMID:17178868|REF_RGD_ID:12904748 11951713 DCX doublecortin gene DOID:3070 high grade glioma disease_progression ISO RGD:1348637 D RGD:9068941 20200609 RGD PMID:21477071|REF_RGD_ID:12904761 11951713 DCX doublecortin gene DOID:3070 high grade glioma treatment ISO RGD:731627 D RGD:9068941 20200609 RGD PMID:19681167|REF_RGD_ID:12904754 11951713 DCX doublecortin gene DOID:3328 temporal lobe epilepsy ISO RGD:1348637 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:20888264|REF_RGD_ID:12904713 11951713 DCX doublecortin gene DOID:3454 brain infarction ISO RGD:620670 D RGD:9068941 20221027 RGD protein:altered expression:brain (rat) PMID:12161747|REF_RGD_ID:155630606 11951713 DCX doublecortin gene DOID:5419 schizophrenia ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11951713 DCX doublecortin gene DOID:630 genetic disease ISO RGD:1348637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10369164|PMID:11071144|PMID:11175293|PMID:11468322|PMID:12552055|PMID:14550532|PMID:18414213|PMID:18685874|PMID:19416314|PMID:23365099|PMID:25741868|PMID:25868952|PMID:26467025|PMID:28492532|PMID:32238909|PMID:35213059|PMID:9618162 11951713 DCX doublecortin gene DOID:9000660 Choristoma ISO RGD:1348637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ectopic tissue PMID:10369164|PMID:10807542|PMID:11175293|PMID:11468322|PMID:12552055|PMID:12838518|PMID:14550532|PMID:17111359|PMID:17576681|PMID:18414213|PMID:18685874|PMID:19416314|PMID:23365099|PMID:25326635|PMID:25741868|PMID:25817838|PMID:25868952|PMID:28492532|PMID:28953922|PMID:29671837|PMID:30979500|PMID:31481326|PMID:35213059|PMID:9489699|PMID:9489700|PMID:9536098|PMID:9618162|PMID:9668176|PMID:9989615 11951713 DCX doublecortin gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1348637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:11175293|PMID:11468322|PMID:18414213|PMID:18685874|PMID:23365099|PMID:28492532|PMID:35213059 11951713 DCX doublecortin gene DOID:9001379 Lissencephaly and Agenesis of Corpus Callosum ISO RGD:1348637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lissencephaly and agenesis of corpus callosum | ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked PMID:10369164|PMID:10441340|PMID:10749977|PMID:11175293|PMID:11331616|PMID:11468322|PMID:12552055|PMID:12838518|PMID:17111359|PMID:18414213|PMID:18685874|PMID:22857951|PMID:23365099|PMID:25326635|PMID:25741868|PMID:25868952|PMID:28492532|PMID:29671837|PMID:30979500|PMID:35213059|PMID:9489699|PMID:9489700 11951713 DCX doublecortin gene DOID:9002676 Cerebral Hemorrhage ISO RGD:620670 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus PMID:24144742|REF_RGD_ID:12904766 11951713 DCX doublecortin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:9489700 11951713 DCX doublecortin gene DOID:9005501 Abnormal Cortical Gyration ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal cortical gyration PMID:18414213 11951713 DCX doublecortin gene DOID:9006534 Nervous System Malformations ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11951713 DCX doublecortin gene DOID:9008500 Classical Lissencephalies and Subcortical Band Heterotopias ISO RGD:1348637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lissencephaly, X-linked PMID:10369164|PMID:11175293|PMID:11468322|PMID:12552055|PMID:12838518|PMID:17111359|PMID:18414213|PMID:18685874|PMID:23365099|PMID:25326635|PMID:25741868|PMID:25868952|PMID:28492532|PMID:29671837|PMID:30979500|PMID:35213059|PMID:9489699|PMID:9489700 11951713 DCX doublecortin gene DOID:9008552 Subcortical Band Heterotopia, X-Linked ISO RGD:1348637 D RGD:9068941 20200609 RGD DNA:deletions PMID:19050731|REF_RGD_ID:12904718 11951713 DCX doublecortin gene DOID:9008552 Subcortical Band Heterotopia, X-Linked ISO RGD:1348637 D RGD:9068941 20200609 RGD DNA:nonsense mutation: :p.R186C (971C>T) (human) PMID:9618162|REF_RGD_ID:12904762 11951713 DCX doublecortin gene DOID:9008552 Subcortical Band Heterotopia, X-Linked ISO RGD:620670 D RGD:9068941 20200609 RGD PMID:19098909|REF_RGD_ID:12904725 11951713 DCX doublecortin gene DOID:9352 type 2 diabetes mellitus ISO RGD:620670 D RGD:9068941 20200609 RGD protein:decreased expression:dentate gyrus PMID:18982449|REF_RGD_ID:12904763 11951725 GFRA3 GDNF family receptor alpha 3 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:731370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11951725 GFRA3 GDNF family receptor alpha 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731370 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11951725 GFRA3 GDNF family receptor alpha 3 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:731370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 11951725 GFRA3 GDNF family receptor alpha 3 gene DOID:10283 prostate cancer ISO RGD:731370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11951725 GFRA3 GDNF family receptor alpha 3 gene DOID:11446 sciatic neuropathy ISO RGD:620502 D RGD:9068941 20200609 RGD mRNA:increased expression:sciatic nerve PMID:10852218|REF_RGD_ID:6218977 11951725 GFRA3 GDNF family receptor alpha 3 gene DOID:630 genetic disease ISO RGD:731370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951725 GFRA3 GDNF family receptor alpha 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11951725 GFRA3 GDNF family receptor alpha 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731370 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11951737 NTSR1 neurotensin receptor 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1314483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11951737 NTSR1 neurotensin receptor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1314483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24781735 11951737 NTSR1 neurotensin receptor 1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1314483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11951737 NTSR1 neurotensin receptor 1 gene DOID:0080600 COVID-19 ISO RGD:1314483 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11951737 NTSR1 neurotensin receptor 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1314483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11951737 NTSR1 neurotensin receptor 1 gene DOID:14330 Parkinson's disease ISO RGD:1314483 D RGD:9068941 20200609 RGD PMID:7700529|REF_RGD_ID:9743906 11951737 NTSR1 neurotensin receptor 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1314483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 11951737 NTSR1 neurotensin receptor 1 gene DOID:1826 epilepsy ISO RGD:1314483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 11951737 NTSR1 neurotensin receptor 1 gene DOID:5419 schizophrenia ISO RGD:1314483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20659557 11951737 NTSR1 neurotensin receptor 1 gene DOID:5419 schizophrenia ISO RGD:1314483 D RGD:9068941 20200806 RGD DNA:repeat:enhancer: 11951737 NTSR1 neurotensin receptor 1 gene DOID:630 genetic disease ISO RGD:1314483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951737 NTSR1 neurotensin receptor 1 gene DOID:9000641 Pain ISO RGD:1314483 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20727387 11951737 NTSR1 neurotensin receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:1306076 D RGD:9068941 20200609 RGD PMID:22396077|REF_RGD_ID:9743902 11951744 LOC100992178 olfactory receptor 2W3 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1343372 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11951744 LOC100992178 olfactory receptor 2W3 gene DOID:1540 parathyroid carcinoma ISO RGD:1343372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11951744 LOC100992178 olfactory receptor 2W3 gene DOID:630 genetic disease ISO RGD:1343372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11951744 LOC100992178 olfactory receptor 2W3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11951744 LOC100992178 olfactory receptor 2W3 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1343372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome PMID:28492532 11951744 LOC100992178 olfactory receptor 2W3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11951766 MARK4 microtubule affinity regulating kinase 4 gene DOID:630 genetic disease ISO RGD:1321076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951809 PRDM4 PR/SET domain 4 gene DOID:630 genetic disease ISO RGD:732265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951839 IGF2 insulin like growth factor 2 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:737149 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:20007936|PMID:24411943|PMID:25741868|PMID:25781672|PMID:27634015 11951839 IGF2 insulin like growth factor 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:2870 D RGD:9068941 20200609 RGD PMID:20683203|REF_RGD_ID:5509948 11951839 IGF2 insulin like growth factor 2 gene DOID:0050589 inflammatory bowel disease disease_progression ISO RGD:737149 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12548059|REF_RGD_ID:5509968 11951839 IGF2 insulin like growth factor 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11951839 IGF2 insulin like growth factor 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16092956 11951839 IGF2 insulin like growth factor 2 gene DOID:0080006 bone development disease ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9349812 11951839 IGF2 insulin like growth factor 2 gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:737149 D RGD:9068941 20200609 RGD PMID:19207313|REF_RGD_ID:12910858 11951839 IGF2 insulin like growth factor 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:737149 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11951839 IGF2 insulin like growth factor 2 gene DOID:0110741 type 1 diabetes mellitus 2 ISO RGD:10770 D RGD:9068941 20220825 MouseDO OMIM:125852 11951839 IGF2 insulin like growth factor 2 gene DOID:0111108 maturity-onset diabetes of the young type 10 ISO RGD:737149 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 10 PMID:20007936|PMID:24411943|PMID:25741868|PMID:25781672|PMID:27634015 11951839 IGF2 insulin like growth factor 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:737149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11951839 IGF2 insulin like growth factor 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:737149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11951839 IGF2 insulin like growth factor 2 gene DOID:10652 Alzheimer's disease ISO RGD:10770 D RGD:9068941 20200609 RGD PMID:24887203|REF_RGD_ID:10045934 11951839 IGF2 insulin like growth factor 2 gene DOID:10652 Alzheimer's disease ISO RGD:2870 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:16627931|REF_RGD_ID:5509963 11951839 IGF2 insulin like growth factor 2 gene DOID:10652 Alzheimer's disease ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15750215 11951839 IGF2 insulin like growth factor 2 gene DOID:10652 Alzheimer's disease ISO RGD:737149 D RGD:9068941 20200609 RGD PMID:24685003|REF_RGD_ID:10402559 11951839 IGF2 insulin like growth factor 2 gene DOID:10652 Alzheimer's disease treatment ISO RGD:10770 D RGD:9068941 20200609 RGD PMID:21040071|REF_RGD_ID:10402558 11951839 IGF2 insulin like growth factor 2 gene DOID:11476 osteoporosis treatment ISO RGD:2870 D RGD:9068941 20200609 RGD PMID:12162999|REF_RGD_ID:10402555 11951839 IGF2 insulin like growth factor 2 gene DOID:12217 Lewy body dementia ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 11951839 IGF2 insulin like growth factor 2 gene DOID:12217 Lewy body dementia ISO RGD:737149 D RGD:9068941 20200609 RGD mRNA:decreased expression:frontal cortex PMID:19276553|REF_RGD_ID:5129515 11951839 IGF2 insulin like growth factor 2 gene DOID:12849 autistic disorder ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17547689 11951839 IGF2 insulin like growth factor 2 gene DOID:14183 alcoholic neuropathy ISO RGD:2870 D RGD:9068941 20200609 RGD PMID:23016131|REF_RGD_ID:10402569 11951839 IGF2 insulin like growth factor 2 gene DOID:14330 Parkinson's disease ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 11951839 IGF2 insulin like growth factor 2 gene DOID:14330 Parkinson's disease ISO RGD:737149 D RGD:9068941 20200609 RGD mRNA:decreased expression:frontal cortex PMID:19276553|REF_RGD_ID:5129515 11951839 IGF2 insulin like growth factor 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:737149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11951839 IGF2 insulin like growth factor 2 gene DOID:14681 Silver-Russell syndrome ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19066168 11951839 IGF2 insulin like growth factor 2 gene DOID:1561 cognitive disorder ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21270887 11951839 IGF2 insulin like growth factor 2 gene DOID:1612 breast cancer ISO RGD:737149 D RGD:9068941 20200609 RGD PMID:18719053|REF_RGD_ID:2311512 11951839 IGF2 insulin like growth factor 2 gene DOID:1657 ventricular septal defect treatment ISO RGD:737149 D RGD:9068941 20200609 RGD PMID:21238444|REF_RGD_ID:13204804 11951839 IGF2 insulin like growth factor 2 gene DOID:1936 atherosclerosis ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11726660 11951839 IGF2 insulin like growth factor 2 gene DOID:2154 nephroblastoma ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8252039 11951839 IGF2 insulin like growth factor 2 gene DOID:2355 anemia ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12090760 11951839 IGF2 insulin like growth factor 2 gene DOID:2377 multiple sclerosis ISO RGD:737149 D RGD:9068941 20200609 RGD protein:increased expression:macrophage PMID:10417663|REF_RGD_ID:5510017 11951839 IGF2 insulin like growth factor 2 gene DOID:3247 rhabdomyosarcoma ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7981680 11951839 IGF2 insulin like growth factor 2 gene DOID:3454 brain infarction ISO RGD:2870 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:7770004|REF_RGD_ID:5509999 11951839 IGF2 insulin like growth factor 2 gene DOID:3594 choriocarcinoma disease_progression ISO RGD:737149 D RGD:9068941 20200609 RGD protein:increased expression:tumor:elevated IGF-II increased choriocarcinoma cell invasion via activation of INSR PMID:17556377|REF_RGD_ID:2290454 11951839 IGF2 insulin like growth factor 2 gene DOID:3827 congenital diaphragmatic hernia treatment ISO RGD:2870 D RGD:9068941 20200609 RGD PMID:24352370|REF_RGD_ID:10402563 11951839 IGF2 insulin like growth factor 2 gene DOID:3948 adrenocortical carcinoma ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21521927|PMID:23417626 11951839 IGF2 insulin like growth factor 2 gene DOID:4752 multiple system atrophy severity ISO RGD:737149 D RGD:9068941 20200609 RGD PMID:20683839|REF_RGD_ID:5509960 11951839 IGF2 insulin like growth factor 2 gene DOID:5082 liver cirrhosis severity ISO RGD:737149 D RGD:9068941 20200609 RGD associated with non-alcoholic fatty liver disease;protein:decreased expression:plasma PMID:28650518|REF_RGD_ID:14401722 11951839 IGF2 insulin like growth factor 2 gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:737149 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome PMID:25741868 11951839 IGF2 insulin like growth factor 2 gene DOID:630 genetic disease ISO RGD:737149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:28848601|PMID:29073591 11951839 IGF2 insulin like growth factor 2 gene DOID:635 acquired immunodeficiency syndrome ISO RGD:737149 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:11232005|REF_RGD_ID:5509969 11951839 IGF2 insulin like growth factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:2870 D RGD:9068941 20200609 RGD PMID:17554210|REF_RGD_ID:2311523 11951839 IGF2 insulin like growth factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12532445|PMID:16092956 11951839 IGF2 insulin like growth factor 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:737149 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:SNPs:intron, 3'utr:+2482A>C, +820A>G (human) PMID:16750516|REF_RGD_ID:14401723 11951839 IGF2 insulin like growth factor 2 gene DOID:687 hepatoblastoma ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23958494 11951839 IGF2 insulin like growth factor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:737149 D RGD:9068941 20200609 RGD DNA:loss of imprinting:synovial cell PMID:19556211|REF_RGD_ID:5510001 11951839 IGF2 insulin like growth factor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:737149 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:11247331|REF_RGD_ID:5510014 11951839 IGF2 insulin like growth factor 2 gene DOID:77 gastrointestinal system disease ISO RGD:737149 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:16477536|REF_RGD_ID:5509964 11951839 IGF2 insulin like growth factor 2 gene DOID:780 placenta disease ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12087403 11951839 IGF2 insulin like growth factor 2 gene DOID:8398 osteoarthritis ISO RGD:737149 D RGD:9068941 20200609 RGD mRNA:increased expression:cartilage PMID:22527881|REF_RGD_ID:10402552 11951839 IGF2 insulin like growth factor 2 gene DOID:8488 polyhydramnios ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9349812 11951839 IGF2 insulin like growth factor 2 gene DOID:8577 ulcerative colitis disease_progression ISO RGD:737149 D RGD:9068941 20200609 RGD PMID:16088202|REF_RGD_ID:5509966 11951839 IGF2 insulin like growth factor 2 gene DOID:9000310 Lung Injury ISO RGD:2870 D RGD:9068941 20200609 RGD PMID:9160836|REF_RGD_ID:5509974 11951839 IGF2 insulin like growth factor 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:2870 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:18421211|REF_RGD_ID:2292665 11951839 IGF2 insulin like growth factor 2 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:2870 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:11213353|REF_RGD_ID:5509971 11951839 IGF2 insulin like growth factor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:10770 D RGD:9068941 20200609 RGD associated with Arthritis, Experimental; protein:increased expression:lung, bone, serum: PMID:21859454|REF_RGD_ID:5510000 11951839 IGF2 insulin like growth factor 2 gene DOID:9000998 Brain Injuries ISO RGD:2870 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:11123717|REF_RGD_ID:5509972 11951839 IGF2 insulin like growth factor 2 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:2870 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:18505416|REF_RGD_ID:5510002 11951839 IGF2 insulin like growth factor 2 gene DOID:9001586 Experimental Liver Neoplasms treatment ISO RGD:2870 D RGD:9068941 20200609 RGD PMID:22425635|REF_RGD_ID:10402567 11951839 IGF2 insulin like growth factor 2 gene DOID:9002163 Silver-Russell Syndrome 3 ISO RGD:737149 D RGD:7240710 20180130 OMIM 11951839 IGF2 insulin like growth factor 2 gene DOID:9002163 Silver-Russell Syndrome 3 ISO RGD:737149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 3 PMID:25741868|PMID:26154720|PMID:28848601|PMID:30152198|PMID:30400067 11951839 IGF2 insulin like growth factor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2870 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; mRNA:decreased expression:neural tissue, liver: PMID:9336345|REF_RGD_ID:5510019 11951839 IGF2 insulin like growth factor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2870 D RGD:9068941 20200609 RGD associates with Diabetes Mellitus; mRNA:decreased expression:brain: PMID:8764603|REF_RGD_ID:5510022 11951839 IGF2 insulin like growth factor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737149 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; PMID:9336345|REF_RGD_ID:5510019 11951839 IGF2 insulin like growth factor 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2870 D RGD:9068941 20200609 RGD mRNA:altered expresssion:liver,placenta: PMID:1408464|REF_RGD_ID:14985247 11951839 IGF2 insulin like growth factor 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12087403|PMID:16040806 11951839 IGF2 insulin like growth factor 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15057734 11951839 IGF2 insulin like growth factor 2 gene DOID:9002955 Nerve Degeneration ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24667322 11951839 IGF2 insulin like growth factor 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11951839 IGF2 insulin like growth factor 2 gene DOID:9003676 Brain Hypoxia-Ischemia disease_progression ISO RGD:737149 D RGD:9068941 20200609 RGD PMID:16787587|REF_RGD_ID:5510005 11951839 IGF2 insulin like growth factor 2 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:737149 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:multiple PMID:16750516|REF_RGD_ID:14401723 11951839 IGF2 insulin like growth factor 2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:737149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11951839 IGF2 insulin like growth factor 2 gene DOID:9004914 Postmenopausal Osteoporosis treatment ISO RGD:737149 D RGD:9068941 20200609 RGD PMID:16753016|REF_RGD_ID:10402556 11951839 IGF2 insulin like growth factor 2 gene DOID:9004994 Embryo Loss ISO RGD:2870 D RGD:9068941 20200609 RGD DNA:methylation: : PMID:18778817|REF_RGD_ID:5509951 11951839 IGF2 insulin like growth factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10770 D RGD:9068941 20200609 RGD DNA, mRNA:hypermethylation, decreased expression PMID:18724775|REF_RGD_ID:2311511 11951839 IGF2 insulin like growth factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10770 D RGD:9068941 20200609 RGD protein:increased expression:oviduct PMID:18676006|REF_RGD_ID:2311502 11951839 IGF2 insulin like growth factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2870 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:10686593|REF_RGD_ID:5509973 11951839 IGF2 insulin like growth factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2870 D RGD:9068941 20200609 RGD protein:increased expression:multiple PMID:17184497|REF_RGD_ID:2311513 11951839 IGF2 insulin like growth factor 2 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:737149 D RGD:9068941 20200609 RGD PMID:23364485|REF_RGD_ID:10402565 11951839 IGF2 insulin like growth factor 2 gene DOID:9005834 Ependymomas ISO RGD:737149 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebellum PMID:18478565|REF_RGD_ID:5509961 11951839 IGF2 insulin like growth factor 2 gene DOID:9006257 Growth Disorders ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9349812 11951839 IGF2 insulin like growth factor 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:2870 D RGD:9068941 20200609 RGD DNA:insertion PMID:18418699|REF_RGD_ID:2311520 11951839 IGF2 insulin like growth factor 2 gene DOID:9006925 Hepatic Echinococcosis ISO RGD:737149 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:12927688|REF_RGD_ID:5509967 11951839 IGF2 insulin like growth factor 2 gene DOID:9007070 Silver-Russell Syndrome 1 ISO RGD:737149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 1 11951839 IGF2 insulin like growth factor 2 gene DOID:9007188 Liver Neoplasms ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12127304 11951839 IGF2 insulin like growth factor 2 gene DOID:9008023 Memory Disorders ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21270887 11951839 IGF2 insulin like growth factor 2 gene DOID:9008023 Memory Disorders treatment ISO RGD:2870 D RGD:9068941 20200609 RGD PMID:24012657|REF_RGD_ID:10402554 11951839 IGF2 insulin like growth factor 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12637750 11951839 IGF2 insulin like growth factor 2 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10370016 11951839 IGF2 insulin like growth factor 2 gene DOID:9256 colorectal cancer ISO RGD:737149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 11951839 IGF2 insulin like growth factor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:10770 D RGD:9068941 20200609 RGD PMID:10727441|REF_RGD_ID:5510004 11951839 IGF2 insulin like growth factor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2870 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:17476475|REF_RGD_ID:2311504 11951839 IGF2 insulin like growth factor 2 gene DOID:9471 meningitis ISO RGD:737149 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:7521338|REF_RGD_ID:5510023 11951839 IGF2 insulin like growth factor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:2870 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:thymus PMID:11307180|REF_RGD_ID:5510007 11951839 IGF2 insulin like growth factor 2 gene DOID:9970 obesity ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11528401 11951839 IGF2 insulin like growth factor 2 gene DOID:9993 hypoglycemia ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3185662 11951865 GARIN6 golgi associated RAB2 interactor family member 6 gene DOID:630 genetic disease ISO RGD:1606688 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951871 VPREB3 V-set pre-B cell surrogate light chain 3 gene DOID:0081135 agammaglobulinemia 2 ISO RGD:1315630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 11951871 VPREB3 V-set pre-B cell surrogate light chain 3 gene DOID:1826 epilepsy ISO RGD:1315630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11951871 VPREB3 V-set pre-B cell surrogate light chain 3 gene DOID:5419 schizophrenia ISO RGD:1315630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11951871 VPREB3 V-set pre-B cell surrogate light chain 3 gene DOID:630 genetic disease ISO RGD:1315630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951877 THAP6 THAP domain containing 6 gene DOID:630 genetic disease ISO RGD:1320801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951877 THAP6 THAP domain containing 6 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1320801 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11951894 RNF31 ring finger protein 31 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1348836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11951894 RNF31 ring finger protein 31 gene DOID:630 genetic disease ISO RGD:1348836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11951894 RNF31 ring finger protein 31 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1348836 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11951894 RNF31 ring finger protein 31 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11951894 RNF31 ring finger protein 31 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1348836 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11951894 RNF31 ring finger protein 31 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:1348836 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency PMID:28492532 11951894 RNF31 ring finger protein 31 gene DOID:9007661 Dwarfism ISO RGD:1348836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:28492532 11951923 TLR6 toll like receptor 6 gene DOID:0060000 infective endocarditis susceptibility ISO RGD:1344850 D RGD:9068941 20210604 RGD DNA:SNP:cds:rs3775073(1263A>G)(p.Lys421Lys)(human) PMID:25213166|REF_RGD_ID:127229900 11951923 TLR6 toll like receptor 6 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1344850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 11951923 TLR6 toll like receptor 6 gene DOID:1024 leprosy ISO RGD:1344850 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 11951923 TLR6 toll like receptor 6 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1552386 D RGD:9068941 20200609 RGD PMID:19019963|REF_RGD_ID:4889534 11951923 TLR6 toll like receptor 6 gene DOID:13564 aspergillosis susceptibility ISO RGD:1344850 D RGD:9068941 20200609 RGD DNA:SNP: :p.S249P (human) PMID:16461792|REF_RGD_ID:4889535 11951923 TLR6 toll like receptor 6 gene DOID:2841 asthma susceptibility ISO RGD:1344850 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:18547625|REF_RGD_ID:4889528 11951923 TLR6 toll like receptor 6 gene DOID:2841 asthma susceptibility ISO RGD:1344850 D RGD:9068941 20200609 RGD DNA:SNP: :p.S249P (human) PMID:15266299|REF_RGD_ID:4889538 11951923 TLR6 toll like receptor 6 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1552386 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (mouse) PMID:18256364|REF_RGD_ID:7246909 11951923 TLR6 toll like receptor 6 gene DOID:399 tuberculosis susceptibility ISO RGD:1344850 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple (human) PMID:18091991|REF_RGD_ID:7246918 11951923 TLR6 toll like receptor 6 gene DOID:4483 rhinitis ISO RGD:1344850 D RGD:9068941 20200609 RGD associated with Asthma;DNA:SNP: :rs2381289 (human) PMID:20815312|REF_RGD_ID:4145352 11951923 TLR6 toll like receptor 6 gene DOID:630 genetic disease ISO RGD:1344850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951923 TLR6 toll like receptor 6 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1552386 D RGD:9068941 20200609 RGD PMID:20070409|REF_RGD_ID:4889532 11951923 TLR6 toll like receptor 6 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1303030 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum PMID:19608731|REF_RGD_ID:5128779 11951923 TLR6 toll like receptor 6 gene DOID:874 bacterial pneumonia ISO RGD:1303030 D RGD:9068941 20200609 RGD PMID:19844782|REF_RGD_ID:4889533 11951923 TLR6 toll like receptor 6 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1344850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 11951923 TLR6 toll like receptor 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344850 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16537705 11951923 TLR6 toll like receptor 6 gene DOID:9004484 Sepsis ISO RGD:1344850 D RGD:9068941 20230216 RGD mRNA:increased expression:plasma PMID:31002148|REF_RGD_ID:155900762 11951923 TLR6 toll like receptor 6 gene DOID:9005372 Inflammation ISO RGD:1303030 D RGD:9068941 20200609 RGD PMID:16154916|REF_RGD_ID:4889539 11951923 TLR6 toll like receptor 6 gene DOID:9005372 Inflammation ISO RGD:1552386 D RGD:9068941 20200609 RGD associated with Respiratory Hypersensitivity PMID:20016195|REF_RGD_ID:4889537 11951931 KLRB1 killer cell lectin like receptor B1 gene DOID:0080600 COVID-19 ISO RGD:1343225 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11951931 KLRB1 killer cell lectin like receptor B1 gene DOID:1909 melanoma ISO RGD:1343225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17295095 11951931 KLRB1 killer cell lectin like receptor B1 gene DOID:630 genetic disease ISO RGD:1343225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951946 SV2B synaptic vesicle glycoprotein 2B gene DOID:10283 prostate cancer ISO RGD:1343420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11951946 SV2B synaptic vesicle glycoprotein 2B gene DOID:12377 spinal muscular atrophy ISO RGD:1332062 D RGD:9068941 20211203 RGD protein:decreased expression:multiple (mouse) PMID:28173138|REF_RGD_ID:11535337 11951946 SV2B synaptic vesicle glycoprotein 2B gene DOID:557 kidney disease ISO RGD:1343420 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16943307 11951946 SV2B synaptic vesicle glycoprotein 2B gene DOID:630 genetic disease ISO RGD:1343420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11951977 P4HA3 prolyl 4-hydroxylase subunit alpha 3 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1346978 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11951977 P4HA3 prolyl 4-hydroxylase subunit alpha 3 gene DOID:1059 intellectual disability ISO RGD:1346978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11951977 P4HA3 prolyl 4-hydroxylase subunit alpha 3 gene DOID:630 genetic disease ISO RGD:1346978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11952000 LPIN2 lipin 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1312114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11952000 LPIN2 lipin 2 gene DOID:0110880 holoprosencephaly 4 ISO RGD:1312114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 4 PMID:16199538|PMID:16962354|PMID:17001671|PMID:19431187|PMID:22125506|PMID:28492532 11952000 LPIN2 lipin 2 gene DOID:0111193 facioscapulohumeral muscular dystrophy 2 ISO RGD:1312114 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 PMID:28492532 11952000 LPIN2 lipin 2 gene DOID:1059 intellectual disability ISO RGD:1312114 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11952000 LPIN2 lipin 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1312114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 11952000 LPIN2 lipin 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1312114 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:10969284|PMID:15994876|PMID:17576681|PMID:18409191|PMID:19717560|PMID:20032092|PMID:20301735|PMID:20645851|PMID:24033266|PMID:25741868|PMID:26386126|PMID:27860302|PMID:2809904|PMID:28492532|PMID:33670882|PMID:9536098 11952000 LPIN2 lipin 2 gene DOID:630 genetic disease ISO RGD:1312114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11952000 LPIN2 lipin 2 gene DOID:8893 psoriasis ISO RGD:1312114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Psoriasis PMID:25741868|PMID:28492532 11952000 LPIN2 lipin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11952000 LPIN2 lipin 2 gene DOID:9005523 Majeed Syndrome ISO RGD:1312114 D RGD:7240710 20180130 OMIM 11952000 LPIN2 lipin 2 gene DOID:9005523 Majeed Syndrome ISO RGD:1312114 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Majeed syndrome PMID:10969284|PMID:11795677|PMID:15994876|PMID:16199547|PMID:17330256|PMID:17576681|PMID:18409191|PMID:19717560|PMID:20032092|PMID:20301735|PMID:20645851|PMID:23087183|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26386126|PMID:27860302|PMID:2809904|PMID:28492532|PMID:28600779|PMID:29387759|PMID:31598604|PMID:31727123|PMID:33314777|PMID:33670882|PMID:9536098 11952028 TRAF5 TNF receptor associated factor 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1605425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11952028 TRAF5 TNF receptor associated factor 5 gene DOID:630 genetic disease ISO RGD:1605425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11952028 TRAF5 TNF receptor associated factor 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11952046 C11H11orf87 chromosome 11 C11orf87 homolog gene DOID:1059 intellectual disability ISO RGD:1604683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11952046 C11H11orf87 chromosome 11 C11orf87 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1604683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11952046 C11H11orf87 chromosome 11 C11orf87 homolog gene DOID:630 genetic disease ISO RGD:1604683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11952046 C11H11orf87 chromosome 11 C11orf87 homolog gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11952067 TIMM17B translocase of inner mitochondrial membrane 17B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11952067 TIMM17B translocase of inner mitochondrial membrane 17B gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1350623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 11952067 TIMM17B translocase of inner mitochondrial membrane 17B gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1350623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11952067 TIMM17B translocase of inner mitochondrial membrane 17B gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1350623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11952067 TIMM17B translocase of inner mitochondrial membrane 17B gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1350623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11952067 TIMM17B translocase of inner mitochondrial membrane 17B gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1350623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 11952067 TIMM17B translocase of inner mitochondrial membrane 17B gene DOID:12849 autistic disorder ISO RGD:1350623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11952067 TIMM17B translocase of inner mitochondrial membrane 17B gene DOID:630 genetic disease ISO RGD:1350623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11952079 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:0050425 restless legs syndrome ISO RGD:736298 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:21570342|REF_RGD_ID:6483334 11952079 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:0112153 hypomyelinating leukodystrophy 20 ISO RGD:736298 D RGD:7240710 20201111 OMIM 11952079 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:0112153 hypomyelinating leukodystrophy 20 ISO RGD:736298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 20 PMID:25741868|PMID:32128616 11952079 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:10554 meningoencephalitis ISO RGD:736299 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain, cerebrospinal fluid PMID:19592007|REF_RGD_ID:6483338 11952079 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:10652 Alzheimer's disease ISO RGD:736299 D RGD:9068941 20200609 RGD PMID:21918687|REF_RGD_ID:6483333 11952079 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:13001 carotid stenosis ISO RGD:2368 D RGD:9068941 20200609 RGD PMID:17936728|REF_RGD_ID:6483357 11952079 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:14018 alcoholic liver cirrhosis ISO RGD:736298 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:16205370|REF_RGD_ID:6483345 11952079 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:2377 multiple sclerosis ISO RGD:736298 D RGD:9068941 20200609 RGD PMID:18676363|PMID:19473295|REF_RGD_ID:6483339|REF_RGD_ID:6483346 11952079 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:5419 schizophrenia ISO RGD:736298 D RGD:9068941 20200609 RGD DNA:SNP:exon:c.326A>G (rs2070106) (human) PMID:16389193|REF_RGD_ID:6483344 11952079 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:5419 schizophrenia no_association ISO RGD:736298 D RGD:9068941 20200609 RGD DNA:SNP:exon:c.326A>G (rs2070106) (human) PMID:17306456|REF_RGD_ID:6483340 11952079 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:5419 schizophrenia susceptibility ISO RGD:736298 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:intron: (rs1054092) PMID:16891421|REF_RGD_ID:6483343 11952079 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:630 genetic disease ISO RGD:736298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11952079 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:640 encephalomyelitis ISO RGD:736299 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:18466224|REF_RGD_ID:6483347 11952079 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9000998 Brain Injuries ISO RGD:2368 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:20215974|REF_RGD_ID:6483336 11952079 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11952079 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2368 D RGD:9068941 20200609 RGD PMID:10650887|PMID:21107918|PMID:7541143|REF_RGD_ID:6483335|REF_RGD_ID:6483351|REF_RGD_ID:6483353 11952079 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2368 D RGD:9068941 20200609 RGD PMID:19747899|REF_RGD_ID:6483337 11952079 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9004807 Catatonic Schizophrenia ISO RGD:736298 D RGD:9068941 20200609 RGD DNA:SNP:exon:c.326A>G (rs2070106) (human) PMID:22473874|REF_RGD_ID:6483331 11952079 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9006289 Myopia 2 ISO RGD:736298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia 2, autosomal dominant 11952079 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:736298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11952079 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9008639 Catatonia ISO RGD:736299 D RGD:9068941 20200609 RGD PMID:22473874|REF_RGD_ID:6483331 11952108 MTMR8 myotubularin related protein 8 gene DOID:0060165 Kleine-Levin syndrome ISO RGD:1347790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kleine-Levin syndrome 11952108 MTMR8 myotubularin related protein 8 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11952108 MTMR8 myotubularin related protein 8 gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1347790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:25741868|PMID:9383023 11952108 MTMR8 myotubularin related protein 8 gene DOID:0080215 developmental and epileptic encephalopathy 8 ISO RGD:1347790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 PMID:28492532 11952108 MTMR8 myotubularin related protein 8 gene DOID:12849 autistic disorder ISO RGD:1347790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11952108 MTMR8 myotubularin related protein 8 gene DOID:630 genetic disease ISO RGD:1347790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11952133 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:0060599 Nance-Horan syndrome ISO RGD:732890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11952133 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11952133 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:732890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11952133 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:0111042 glycogen storage disease IXa ISO RGD:732890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11952133 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:0111999 immunodeficiency 61 ISO RGD:732890 D RGD:7240710 20190501 OMIM 11952133 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:0111999 immunodeficiency 61 ISO RGD:732890 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency 61 PMID:25741868|PMID:28492532|PMID:29636373 11952133 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:12849 autistic disorder ISO RGD:732890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11952133 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:732890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11952133 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:630 genetic disease ISO RGD:732890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11952133 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:732890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 11952133 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11952169 GNAT3 G protein subunit alpha transducin 3 gene DOID:12336 male infertility ISO RGD:1604949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23818598 11952169 GNAT3 G protein subunit alpha transducin 3 gene DOID:1826 epilepsy ISO RGD:1604949 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 11952169 GNAT3 G protein subunit alpha transducin 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11952169 GNAT3 G protein subunit alpha transducin 3 gene DOID:630 genetic disease ISO RGD:1604949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11952169 GNAT3 G protein subunit alpha transducin 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:727817 D RGD:9068941 20200609 RGD mRNA, protein;increased expression:taste bud PMID:18824257|REF_RGD_ID:2302147 11952181 PARVB parvin beta gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1322969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11952181 PARVB parvin beta gene DOID:1059 intellectual disability ISO RGD:1322969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11952181 PARVB parvin beta gene DOID:630 genetic disease ISO RGD:1322969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11952204 CTSB cathepsin B gene DOID:0060180 colitis ISO RGD:1558619 D RGD:9068941 20200609 RGD protein:increased activity:cecum, colon, spinal cord PMID:21802389|REF_RGD_ID:5686873 11952204 CTSB cathepsin B gene DOID:0080000 muscular disease ISO RGD:734437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7099197 11952204 CTSB cathepsin B gene DOID:0080322 polycystic kidney disease ISO RGD:621509 D RGD:9068941 20200609 RGD protein:increased expression:kidney proximal tubule PMID:8840269|REF_RGD_ID:5686402 11952204 CTSB cathepsin B gene DOID:0080600 COVID-19 ISO RGD:734437 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11952204 CTSB cathepsin B gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:621509 D RGD:9068941 20200609 RGD protein:increased activity:pancreas (rat) PMID:17723883|REF_RGD_ID:2315517 11952204 CTSB cathepsin B gene DOID:10754 otitis media ISO RGD:621509 D RGD:9068941 20200609 RGD mRNA:increased expression:middle ear mucosa (rat) PMID:15179208|REF_RGD_ID:1342442 11952204 CTSB cathepsin B gene DOID:10941 intracranial aneurysm ISO RGD:621509 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:Circle of Willis (rat) PMID:18635848|REF_RGD_ID:2306495 11952204 CTSB cathepsin B gene DOID:10941 intracranial aneurysm ISO RGD:734437 D RGD:9068941 20200609 RGD protein:increased expression:cerebral aneurysm (human) PMID:18635848|REF_RGD_ID:2306495 11952204 CTSB cathepsin B gene DOID:11054 urinary bladder cancer ISO RGD:734437 D RGD:9068941 20200609 RGD protein:increased activity:transitional cell carcinoma (human) PMID:15183956|REF_RGD_ID:2315615 11952204 CTSB cathepsin B gene DOID:12842 Guillain-Barre syndrome ISO RGD:734437 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:11134381|REF_RGD_ID:5686395 11952204 CTSB cathepsin B gene DOID:14004 thoracic aortic aneurysm ISO RGD:734437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm PMID:32748548 11952204 CTSB cathepsin B gene DOID:14219 renal tubular acidosis ISO RGD:621509 D RGD:9068941 20200609 RGD protein:decreased activity:renal proximal tubule (rat) PMID:7873730|REF_RGD_ID:2315534 11952204 CTSB cathepsin B gene DOID:1612 breast cancer ISO RGD:734437 D RGD:9068941 20200609 RGD protein:increased expression:breast carcinoma, cytosol (human) PMID:9508185|REF_RGD_ID:2315523 11952204 CTSB cathepsin B gene DOID:1936 atherosclerosis ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:12213722|REF_RGD_ID:5687152 11952204 CTSB cathepsin B gene DOID:2316 brain ischemia ISO RGD:621509 D RGD:9068941 20200609 RGD protein:increased activity:cerebrum (rat) PMID:18404379|REF_RGD_ID:2315571 11952204 CTSB cathepsin B gene DOID:2377 multiple sclerosis ISO RGD:1558619 D RGD:9068941 20200609 RGD PMID:17086443|REF_RGD_ID:5686392 11952204 CTSB cathepsin B gene DOID:2377 multiple sclerosis ISO RGD:734437 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:11134381|REF_RGD_ID:5686395 11952204 CTSB cathepsin B gene DOID:2671 transitional cell carcinoma ISO RGD:734437 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:15183956|REF_RGD_ID:2315615 11952204 CTSB cathepsin B gene DOID:3068 glioblastoma ISO RGD:734437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22287159 11952204 CTSB cathepsin B gene DOID:3068 glioblastoma ISO RGD:734437 D RGD:9068941 20200609 RGD protein:increased expression:glioma cell (human) PMID:17898873|REF_RGD_ID:2315515 11952204 CTSB cathepsin B gene DOID:3070 high grade glioma ISO RGD:621509 D RGD:9068941 20200609 RGD PMID:17287256|REF_RGD_ID:2315520 11952204 CTSB cathepsin B gene DOID:3454 brain infarction ISO RGD:621509 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortical segment, cytoplasm (rat) PMID:19941836|REF_RGD_ID:2315502 11952204 CTSB cathepsin B gene DOID:4450 renal cell carcinoma ISO RGD:734437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 11952204 CTSB cathepsin B gene DOID:4914 esophagus adenocarcinoma ISO RGD:734437 D RGD:9068941 20200609 RGD PMID:9770500|REF_RGD_ID:734853 11952204 CTSB cathepsin B gene DOID:576 proteinuria ISO RGD:734437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3669494 11952204 CTSB cathepsin B gene DOID:5844 myocardial infarction ISO RGD:621509 D RGD:9068941 20200609 RGD protein:increased activity:serum, heart (rat) PMID:19958779|REF_RGD_ID:2315501 11952204 CTSB cathepsin B gene DOID:630 genetic disease ISO RGD:734437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11952204 CTSB cathepsin B gene DOID:684 hepatocellular carcinoma ISO RGD:621509 D RGD:9068941 20200609 RGD PMID:15641152|REF_RGD_ID:2315605 11952204 CTSB cathepsin B gene DOID:885 fascioliasis ISO RGD:621509 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:19696938|REF_RGD_ID:2315504 11952204 CTSB cathepsin B gene DOID:9000918 Disease Progression ISO RGD:734437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22287159 11952204 CTSB cathepsin B gene DOID:9000965 Neoplasm Metastasis ISO RGD:734437 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:12589965|REF_RGD_ID:5686394 11952204 CTSB cathepsin B gene DOID:9001542 Albuminuria ISO RGD:621509 D RGD:9068941 20200609 RGD associated with Hypertension PMID:19023196|REF_RGD_ID:2315726 11952204 CTSB cathepsin B gene DOID:9002304 Prostatic Neoplasms ISO RGD:734437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19503093 11952204 CTSB cathepsin B gene DOID:9002457 Experimental Arthritis ISO RGD:621509 D RGD:9068941 20200609 RGD mRNA:increased expression:knee joint, synovium (rat) PMID:17195213|REF_RGD_ID:2315521 11952204 CTSB cathepsin B gene DOID:9003833 Keratolytic Winter Erythema ISO RGD:734437 D RGD:7240710 20190315 OMIM 11952204 CTSB cathepsin B gene DOID:9003833 Keratolytic Winter Erythema ISO RGD:734437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratolytic winter erythema PMID:25741868|PMID:28492532 11952204 CTSB cathepsin B gene DOID:9004009 Reperfusion Injury ISO RGD:621509 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, mitochondrion (rat) PMID:18938146|REF_RGD_ID:2315506 11952204 CTSB cathepsin B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11952204 CTSB cathepsin B gene DOID:9004575 Neoplasm Invasiveness ISO RGD:734437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19700239|PMID:19747051 11952204 CTSB cathepsin B gene DOID:9004871 Mercury Poisoning, Nervous System ISO RGD:621509 D RGD:9068941 20200609 RGD PMID:18638529|REF_RGD_ID:2315510 11952204 CTSB cathepsin B gene DOID:9005166 Contusions ISO RGD:621509 D RGD:9068941 20211224 RGD mRNA, protein:increased expression, increased activity:gastrocnemius (rat) PMID:11788364|REF_RGD_ID:631244 11952204 CTSB cathepsin B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621509 D RGD:9068941 20200609 RGD protein:decreased activity:glomerulus (rat) PMID:10393385|REF_RGD_ID:2315531 11952204 CTSB cathepsin B gene DOID:9005749 Necrosis ISO RGD:734437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22287159 11952204 CTSB cathepsin B gene DOID:9006487 Reoviridae Infections ISO RGD:1558619 D RGD:9068941 20200609 RGD PMID:19640986|REF_RGD_ID:5686877 11952204 CTSB cathepsin B gene DOID:9006684 Inflammatory Breast Neoplasms ISO RGD:734437 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32512068 11952204 CTSB cathepsin B gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:621509 D RGD:9068941 20200609 RGD protein:increased activity:liver, cytosol (rat) PMID:17850215|REF_RGD_ID:2315516 11952204 CTSB cathepsin B gene DOID:9007732 Squalene Synthase Deficiency ISO RGD:734437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squalene synthase deficiency PMID:25741868|PMID:29909962 11952204 CTSB cathepsin B gene DOID:9008091 Optic Nerve Injuries ISO RGD:621509 D RGD:9068941 20200609 RGD protein:increased expression:retina (rat) PMID:18775855|REF_RGD_ID:2315508 11952204 CTSB cathepsin B gene DOID:9008444 Skeletal Muscle Injuries ISO RGD:621509 D RGD:9068941 20211217 RGD protein:increased activity:gastrocnemius (rat) PMID:11788364|REF_RGD_ID:631244 11952204 CTSB cathepsin B gene DOID:9351 diabetes mellitus onset ISO RGD:734437 D RGD:9068941 20200609 RGD DNA:transversion:cds:p.L26V (human) PMID:18706099|REF_RGD_ID:2315528 11952204 CTSB cathepsin B gene DOID:9352 type 2 diabetes mellitus ISO RGD:734437 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet (human) PMID:19367387|REF_RGD_ID:2315527 11952204 CTSB cathepsin B gene DOID:9452 fatty liver disease ISO RGD:621509 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:liver, cytosol (rat) PMID:18452148|REF_RGD_ID:2315513 11952204 CTSB cathepsin B gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1558619 D RGD:9068941 20200609 RGD PMID:19664906|REF_RGD_ID:2315524 11952205 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:0050716 methylmalonic aciduria and homocystinuria type cblD ISO RGD:1602635 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblD type PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 11952205 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1602635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:16470708|PMID:17576681|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:23757202|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26701950|PMID:27430971|PMID:27570394|PMID:27884173|PMID:28492532|PMID:29302074|PMID:29410950|PMID:30315573|PMID:32214227|PMID:32404165|PMID:34580403|PMID:9536098 11952205 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1602635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:16470708|PMID:17576681|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:23757202|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26701950|PMID:27430971|PMID:27570394|PMID:27884173|PMID:28492532|PMID:29410950|PMID:32214227|PMID:9536098 11952205 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1602635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:16470708|PMID:17576681|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:23757202|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26701950|PMID:27430971|PMID:27570394|PMID:27884173|PMID:28492532|PMID:29302074|PMID:29410950|PMID:30315573|PMID:32214227|PMID:32404165|PMID:34580403|PMID:9536098 11952205 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:0060267 pontocerebellar hypoplasia type 2A ISO RGD:1602635 D RGD:7240710 20180130 OMIM 11952205 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:0060267 pontocerebellar hypoplasia type 2A ISO RGD:1602635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2A | ClinVar Annotator: match by term: VOLENDAM NEURODEGENERATIVE DISEASE PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29302074|PMID:29410950|PMID:30315573|PMID:32404165|PMID:34580403 11952205 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:0060273 pontocerebellar hypoplasia type 4 ISO RGD:1602635 D RGD:7240710 20180221 OMIM 11952205 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:0060273 pontocerebellar hypoplasia type 4 ISO RGD:1602635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Encephalopathy fatal infantile with olivopontocerebellar hypoplasia | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 4 PMID:16470708|PMID:17576681|PMID:17641900|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:23757202|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26701950|PMID:27430971|PMID:27570394|PMID:27884173|PMID:28492532|PMID:29302074|PMID:29410950|PMID:30315573|PMID:32404165|PMID:34580403|PMID:9536098 11952205 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:0060274 pontocerebellar hypoplasia type 5 ISO RGD:1602635 D RGD:7240710 20180822 OMIM 11952205 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:0060274 pontocerebellar hypoplasia type 5 ISO RGD:1602635 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia fetal-onset | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 5 PMID:16470708|PMID:17641900|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 11952205 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1602635 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 11952205 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:0112328 pontocerebellar hypoplasia type 2 ISO RGD:1602635 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2 PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 11952205 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:10376 amblyopia ISO RGD:1602635 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Amblyopia PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 11952205 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:1059 intellectual disability ISO RGD:1602635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 11952205 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:1059 intellectual disability ISO RGD:1602635 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 11952205 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:10907 microcephaly ISO RGD:1602635 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 11952205 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:14784 olivopontocerebellar atrophy ISO RGD:1602635 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 11952205 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:480 movement disease ISO RGD:1602635 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 11952205 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:630 genetic disease ISO RGD:1602635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16470708|PMID:17576681|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950|PMID:9536098 11952205 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:9000123 Deglutition Disorders ISO RGD:1602635 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 11952205 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:9000343 Vision Disorders ISO RGD:1602635 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 11952205 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:9006534 Nervous System Malformations ISO RGD:1602635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11952205 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:9008086 Developmental Disabilities ISO RGD:1602635 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 11952225 SMIM13 small integral membrane protein 13 gene DOID:630 genetic disease ISO RGD:5508051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11952284 MROH9 maestro heat like repeat family member 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1602210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11952284 MROH9 maestro heat like repeat family member 9 gene DOID:630 genetic disease ISO RGD:1602210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11952284 MROH9 maestro heat like repeat family member 9 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1602210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 11952284 MROH9 maestro heat like repeat family member 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11952315 SLC7A7 solute carrier family 7 member 7 gene DOID:0060439 lysinuric protein intolerance ISO RGD:733448 D RGD:7240710 20180130 OMIM 11952315 SLC7A7 solute carrier family 7 member 7 gene DOID:0060439 lysinuric protein intolerance ISO RGD:733448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:10080182|PMID:10080183|PMID:10631139|PMID:10655553|PMID:10737982|PMID:10980538|PMID:11377971|PMID:11544277|PMID:11883940|PMID:12402335|PMID:15756301|PMID:15776427|PMID:16199547|PMID:17530437|PMID:17576681|PMID:17666782|PMID:17764084|PMID:18716612|PMID:18846669|PMID:20301535|PMID:21110863|PMID:21716135|PMID:22325938|PMID:23430825|PMID:23542076|PMID:23772603|PMID:23940088|PMID:25326635|PMID:25419514|PMID:25614305|PMID:25640679|PMID:25741868|PMID:26865117|PMID:28028301|PMID:28492532|PMID:29058386|PMID:29795570|PMID:30054302|PMID:30832686|PMID:31014432|PMID:31211457|PMID:31427715|PMID:32249831|PMID:32542393|PMID:34095032|PMID:9536098|PMID:9829974 11952315 SLC7A7 solute carrier family 7 member 7 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:733448 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10631139|PMID:15776427|PMID:17764084|PMID:20301535|PMID:25741868|PMID:28492532|PMID:29795570|PMID:34095032 11952315 SLC7A7 solute carrier family 7 member 7 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:733448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10631139|PMID:15776427|PMID:17530437|PMID:17764084|PMID:20301535|PMID:25741868|PMID:28492532|PMID:29795570|PMID:34095032 11952315 SLC7A7 solute carrier family 7 member 7 gene DOID:630 genetic disease ISO RGD:733448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11952315 SLC7A7 solute carrier family 7 member 7 gene DOID:9000265 Specific Granule Deficiency ISO RGD:733448 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11952315 SLC7A7 solute carrier family 7 member 7 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:733448 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11952315 SLC7A7 solute carrier family 7 member 7 gene DOID:9252 amino acid metabolic disorder ISO RGD:733448 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11544277 11952347 AP1M1 adaptor related protein complex 1 subunit mu 1 gene DOID:630 genetic disease ISO RGD:1316969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11952364 LOC100991754 histone PARylation factor 1 gene DOID:630 genetic disease ISO RGD:1606274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11952376 JPH3 junctophilin 3 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1318170 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 11952376 JPH3 junctophilin 3 gene DOID:0090104 Huntington's disease-like 2 ISO RGD:1318170 D RGD:7240710 20180130 OMIM 11952376 JPH3 junctophilin 3 gene DOID:0090104 Huntington's disease-like 2 ISO RGD:1318170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Huntington disease-like 2 PMID:25741868|PMID:28492532 11952376 JPH3 junctophilin 3 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1318170 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11952376 JPH3 junctophilin 3 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1318170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 11952376 JPH3 junctophilin 3 gene DOID:630 genetic disease ISO RGD:1318170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11952376 JPH3 junctophilin 3 gene DOID:9002957 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO ISO RGD:1318170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to PMID:24530203|PMID:26913920|PMID:28492532 11952376 JPH3 junctophilin 3 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1318170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 11952376 JPH3 junctophilin 3 gene DOID:9007980 Sleep Deprivation ISO RGD:1318171 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:18077435|REF_RGD_ID:6480426 11952376 JPH3 junctophilin 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 11952401 PPP1R13L protein phosphatase 1 regulatory subunit 13 like gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1617213 D RGD:9068941 20220825 MouseDO 11952401 PPP1R13L protein phosphatase 1 regulatory subunit 13 like gene DOID:0050737 autosomal recessive disease ISO RGD:1617213 D RGD:9068941 20220825 MouseDO 11952401 PPP1R13L protein phosphatase 1 regulatory subunit 13 like gene DOID:1240 leukemia ISO RGD:1347285 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19299014 11952401 PPP1R13L protein phosphatase 1 regulatory subunit 13 like gene DOID:12930 dilated cardiomyopathy ISO RGD:1347285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28069640 11952401 PPP1R13L protein phosphatase 1 regulatory subunit 13 like gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:1347285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardio-cutaneous syndrome PMID:28069640 11952401 PPP1R13L protein phosphatase 1 regulatory subunit 13 like gene DOID:630 genetic disease ISO RGD:1347285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11952415 MED15 mediator complex subunit 15 gene DOID:0060041 autism spectrum disorder ISO RGD:1316826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11952415 MED15 mediator complex subunit 15 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1316826 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 11952415 MED15 mediator complex subunit 15 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1316826 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 11952415 MED15 mediator complex subunit 15 gene DOID:10487 Hirschsprung's disease ISO RGD:1316826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 11952415 MED15 mediator complex subunit 15 gene DOID:1059 intellectual disability ISO RGD:1316826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11952415 MED15 mediator complex subunit 15 gene DOID:11198 DiGeorge syndrome ISO RGD:1316826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 11952415 MED15 mediator complex subunit 15 gene DOID:11372 megacolon ISO RGD:1316826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11952415 MED15 mediator complex subunit 15 gene DOID:12583 velocardiofacial syndrome ISO RGD:1316826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 11952415 MED15 mediator complex subunit 15 gene DOID:12849 autistic disorder ISO RGD:1316826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11952415 MED15 mediator complex subunit 15 gene DOID:1826 epilepsy ISO RGD:1316826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11952415 MED15 mediator complex subunit 15 gene DOID:2213 hemorrhagic disease ISO RGD:1316826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 11952415 MED15 mediator complex subunit 15 gene DOID:5419 schizophrenia ISO RGD:1316826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11952415 MED15 mediator complex subunit 15 gene DOID:612 primary immunodeficiency disease ISO RGD:1316826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11952415 MED15 mediator complex subunit 15 gene DOID:630 genetic disease ISO RGD:1316826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11952415 MED15 mediator complex subunit 15 gene DOID:9003871 Venous Thrombosis ISO RGD:1316826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 11952415 MED15 mediator complex subunit 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11952415 MED15 mediator complex subunit 15 gene DOID:9007661 Dwarfism ISO RGD:1316826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11952437 ELAVL4 ELAV like RNA binding protein 4 gene DOID:11446 sciatic neuropathy ISO RGD:1560027 D RGD:9068941 20200609 RGD PMID:12957493|REF_RGD_ID:1579851 11952437 ELAVL4 ELAV like RNA binding protein 4 gene DOID:1459 hypothyroidism ISO RGD:1560027 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brain: PMID:12859688|REF_RGD_ID:1579855 11952437 ELAVL4 ELAV like RNA binding protein 4 gene DOID:1824 status epilepticus ISO RGD:1560027 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus: PMID:17577668|REF_RGD_ID:9685310 11952437 ELAVL4 ELAV like RNA binding protein 4 gene DOID:630 genetic disease ISO RGD:1348119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11952437 ELAVL4 ELAV like RNA binding protein 4 gene DOID:8927 learning disability ISO RGD:1560027 D RGD:9068941 20200609 RGD PMID:23545166|REF_RGD_ID:9685325 11952437 ELAVL4 ELAV like RNA binding protein 4 gene DOID:9002189 High Myopia ISO RGD:1348119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11952468 VWA7 von Willebrand factor A domain containing 7 gene DOID:0050553 JMP syndrome ISO RGD:1342662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11952468 VWA7 von Willebrand factor A domain containing 7 gene DOID:630 genetic disease ISO RGD:1342662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11952552 EIF4G3 eukaryotic translation initiation factor 4 gamma 3 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1322792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11952552 EIF4G3 eukaryotic translation initiation factor 4 gamma 3 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1322792 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11952552 EIF4G3 eukaryotic translation initiation factor 4 gamma 3 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1322792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11952552 EIF4G3 eukaryotic translation initiation factor 4 gamma 3 gene DOID:10283 prostate cancer ISO RGD:1322792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11952552 EIF4G3 eukaryotic translation initiation factor 4 gamma 3 gene DOID:630 genetic disease ISO RGD:1322792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11952552 EIF4G3 eukaryotic translation initiation factor 4 gamma 3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1322792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11952617 LOC100972004 mas-related G-protein coupled receptor member X1 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1605552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 11952617 LOC100972004 mas-related G-protein coupled receptor member X1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1605552 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 11952617 LOC100972004 mas-related G-protein coupled receptor member X1 gene DOID:1059 intellectual disability ISO RGD:1605552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11952617 LOC100972004 mas-related G-protein coupled receptor member X1 gene DOID:630 genetic disease ISO RGD:1605552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11952623 LOC100977130 tropomyosin alpha-3 chain gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1605427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11952623 LOC100977130 tropomyosin alpha-3 chain gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1605427 D RGD:7240710 20200619 OMIM 11952623 LOC100977130 tropomyosin alpha-3 chain gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1605427 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:12163190|PMID:12467750|PMID:17376686|PMID:18300303|PMID:19487656|PMID:19553118|PMID:19953533|PMID:20179953|PMID:20301436|PMID:20554445|PMID:21357678|PMID:22749829|PMID:22798622|PMID:23886664|PMID:24033266|PMID:24095155|PMID:24507666|PMID:24642510|PMID:24692096|PMID:25741868|PMID:26307083|PMID:26467025|PMID:27363342|PMID:27854218|PMID:28492532|PMID:30768849 11952623 LOC100977130 tropomyosin alpha-3 chain gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1605427 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:12163190|PMID:1221488|PMID:12467750|PMID:17376686|PMID:18300303|PMID:19487656|PMID:19553118|PMID:19953533|PMID:20179953|PMID:20301436|PMID:20554445|PMID:20951040|PMID:21357678|PMID:22749829|PMID:22798622|PMID:23886664|PMID:24033266|PMID:24095155|PMID:24507666|PMID:24642510|PMID:24692096|PMID:25741868|PMID:26307083|PMID:26467025|PMID:27363342|PMID:27854218|PMID:28492532|PMID:30768849|PMID:35688744 11952623 LOC100977130 tropomyosin alpha-3 chain gene DOID:0110926 nemaline myopathy 1 ISO RGD:1605427 D RGD:7240710 20180130 OMIM 11952623 LOC100977130 tropomyosin alpha-3 chain gene DOID:0110926 nemaline myopathy 1 ISO RGD:1605427 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cap myopathy 1 | ClinVar Annotator: match by term: Congenital myopathy 4B, autosomal recessive | ClinVar Annotator: match by term: Nemaline myopathy 1, autosomal dominant or recessive PMID:10587521|PMID:10619715|PMID:11106625|PMID:11964245|PMID:12163017|PMID:12163190|PMID:12196661|PMID:1221488|PMID:12467750|PMID:15562513|PMID:16199547|PMID:17376686|PMID:17576681|PMID:18300303|PMID:18382475|PMID:18716557|PMID:19487656|PMID:19553118|PMID:19953533|PMID:20012312|PMID:20179953|PMID:20301436|PMID:20301465|PMID:20554445|PMID:20951040|PMID:21357678|PMID:22749829|PMID:22798622|PMID:23886664|PMID:24033266|PMID:24095155|PMID:24239060|PMID:24507666|PMID:24642510|PMID:24692096|PMID:25326635|PMID:25741868|PMID:26307083|PMID:26467025|PMID:27363342|PMID:27854218|PMID:27858751|PMID:28492532|PMID:30768849|PMID:32860008|PMID:33124102|PMID:35688744|PMID:7663526|PMID:7704029|PMID:9536098 11952623 LOC100977130 tropomyosin alpha-3 chain gene DOID:0111940 immunodeficiency 42 ISO RGD:1605427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11952623 LOC100977130 tropomyosin alpha-3 chain gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11952623 LOC100977130 tropomyosin alpha-3 chain gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605427 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 11952623 LOC100977130 tropomyosin alpha-3 chain gene DOID:1540 parathyroid carcinoma ISO RGD:1605427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11952623 LOC100977130 tropomyosin alpha-3 chain gene DOID:299 adenocarcinoma ISO RGD:1605427 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 11952623 LOC100977130 tropomyosin alpha-3 chain gene DOID:305 carcinoma ISO RGD:1605427 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 11952623 LOC100977130 tropomyosin alpha-3 chain gene DOID:3191 nemaline myopathy ISO RGD:1605427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 11952623 LOC100977130 tropomyosin alpha-3 chain gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1605427 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid PMID:28677753|REF_RGD_ID:13792605 11952623 LOC100977130 tropomyosin alpha-3 chain gene DOID:422 congenital structural myopathy ISO RGD:1605427 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:12163190|PMID:1221488|PMID:12467750|PMID:17376686|PMID:18300303|PMID:19487656|PMID:19553118|PMID:19953533|PMID:20179953|PMID:20301436|PMID:20554445|PMID:20951040|PMID:21357678|PMID:22749829|PMID:22798622|PMID:23886664|PMID:24095155|PMID:24507666|PMID:24642510|PMID:24692096|PMID:25741868|PMID:26307083|PMID:26467025|PMID:27363342|PMID:27854218|PMID:28492532|PMID:35688744 11952623 LOC100977130 tropomyosin alpha-3 chain gene DOID:423 myopathy ISO RGD:1605427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 11952623 LOC100977130 tropomyosin alpha-3 chain gene DOID:5812 MHC class II deficiency ISO RGD:1605427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11952623 LOC100977130 tropomyosin alpha-3 chain gene DOID:630 genetic disease ISO RGD:1605427 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12163190|PMID:12467750|PMID:17376686|PMID:18300303|PMID:19487656|PMID:19553118|PMID:19953533|PMID:20179953|PMID:20301436|PMID:20554445|PMID:21357678|PMID:22749829|PMID:22798622|PMID:23886664|PMID:24095155|PMID:24507666|PMID:24642510|PMID:24692096|PMID:25741868|PMID:26307083|PMID:27363342|PMID:28492532 11952623 LOC100977130 tropomyosin alpha-3 chain gene DOID:9000217 Stomach Neoplasms ISO RGD:1605427 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 11952623 LOC100977130 tropomyosin alpha-3 chain gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1605427 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 11952623 LOC100977130 tropomyosin alpha-3 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605427 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11952623 LOC100977130 tropomyosin alpha-3 chain gene DOID:9002928 Colonic Neoplasms ISO RGD:1605427 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19369484 11952623 LOC100977130 tropomyosin alpha-3 chain gene DOID:9004547 Thyroid Neoplasms ISO RGD:1605427 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23811263 11952623 LOC100977130 tropomyosin alpha-3 chain gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1605427 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 11952623 LOC100977130 tropomyosin alpha-3 chain gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11952654 ANKRD24 ankyrin repeat domain 24 gene DOID:13938 amenorrhea ISO RGD:1322819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11952654 ANKRD24 ankyrin repeat domain 24 gene DOID:630 genetic disease ISO RGD:1322819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11952679 C16H16orf54 chromosome 16 C16orf54 homolog gene DOID:0060041 autism spectrum disorder ISO RGD:1605828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 11952679 C16H16orf54 chromosome 16 C16orf54 homolog gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1605828 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 11952679 C16H16orf54 chromosome 16 C16orf54 homolog gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1605828 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 11952679 C16H16orf54 chromosome 16 C16orf54 homolog gene DOID:0080600 COVID-19 ISO RGD:1605828 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11952679 C16H16orf54 chromosome 16 C16orf54 homolog gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1605828 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 11952679 C16H16orf54 chromosome 16 C16orf54 homolog gene DOID:12849 autistic disorder ISO RGD:1605828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11952679 C16H16orf54 chromosome 16 C16orf54 homolog gene DOID:1882 atrial heart septal defect ISO RGD:1605828 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 11952679 C16H16orf54 chromosome 16 C16orf54 homolog gene DOID:5419 schizophrenia ISO RGD:1605828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11952679 C16H16orf54 chromosome 16 C16orf54 homolog gene DOID:630 genetic disease ISO RGD:1605828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11952679 C16H16orf54 chromosome 16 C16orf54 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11952679 C16H16orf54 chromosome 16 C16orf54 homolog gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1605828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 11952685 RIMOC1 RAB7A interacting MON1-CCZ1 complex subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11952695 RAB33B RAB33B, member RAS oncogene family gene DOID:0060247 Smith-McCort dysplasia ISO RGD:1318074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-McCort dysplasia 11952695 RAB33B RAB33B, member RAS oncogene family gene DOID:0080006 bone development disease ISO RGD:1318074 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 11952695 RAB33B RAB33B, member RAS oncogene family gene DOID:0081271 Smith-McCort dysplasia 2 ISO RGD:1318074 D RGD:7240710 20180130 OMIM 11952695 RAB33B RAB33B, member RAS oncogene family gene DOID:0081271 Smith-McCort dysplasia 2 ISO RGD:1318074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-McCort dysplasia 2 PMID:16470731|PMID:22652534|PMID:23042644|PMID:25741868|PMID:28127940|PMID:28492532 11952695 RAB33B RAB33B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1318074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11952702 PATE4 prostate and testis expressed 4 gene DOID:0110877 holoprosencephaly 11 ISO RGD:2302529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11952702 PATE4 prostate and testis expressed 4 gene DOID:0111723 Jacobsen Syndrome ISO RGD:2302529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11952702 PATE4 prostate and testis expressed 4 gene DOID:5419 schizophrenia ISO RGD:2302529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11952702 PATE4 prostate and testis expressed 4 gene DOID:630 genetic disease ISO RGD:2302529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11952702 PATE4 prostate and testis expressed 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:2302529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11952702 PATE4 prostate and testis expressed 4 gene DOID:9007661 Dwarfism ISO RGD:2302529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11952710 KCNC1 potassium voltage-gated channel subfamily C member 1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:735437 D RGD:7240710 20180130 OMIM 11952710 KCNC1 potassium voltage-gated channel subfamily C member 1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:735437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:17576681|PMID:25363768|PMID:25401298|PMID:25741868|PMID:26467025|PMID:27629860|PMID:28145425|PMID:28380698|PMID:28488083|PMID:28492532|PMID:28714951|PMID:31353855|PMID:31353862|PMID:34232791|PMID:9536098 11952710 KCNC1 potassium voltage-gated channel subfamily C member 1 gene DOID:1059 intellectual disability ISO RGD:735437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11952710 KCNC1 potassium voltage-gated channel subfamily C member 1 gene DOID:10652 Alzheimer's disease ISO RGD:10833 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:neocortex (mouse) PMID:21912965|REF_RGD_ID:9686062 11952710 KCNC1 potassium voltage-gated channel subfamily C member 1 gene DOID:1826 epilepsy ISO RGD:735437 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizure PMID:26467025|PMID:28492532 11952710 KCNC1 potassium voltage-gated channel subfamily C member 1 gene DOID:1826 epilepsy ISO RGD:735437 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure 11952710 KCNC1 potassium voltage-gated channel subfamily C member 1 gene DOID:630 genetic disease ISO RGD:735437 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25401298|PMID:25741868|PMID:26467025|PMID:27629860|PMID:28380698|PMID:28488083|PMID:28492532 11952710 KCNC1 potassium voltage-gated channel subfamily C member 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:735437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 11952710 KCNC1 potassium voltage-gated channel subfamily C member 1 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:735437 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:28492532 11952718 MRPL38 mitochondrial ribosomal protein L38 gene DOID:630 genetic disease ISO RGD:1322502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11952735 CFAP53 cilia and flagella associated protein 53 gene DOID:0050545 visceral heterotaxy ISO RGD:1344036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Situs ambiguus 11952735 CFAP53 cilia and flagella associated protein 53 gene DOID:1059 intellectual disability ISO RGD:1344036 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11952735 CFAP53 cilia and flagella associated protein 53 gene DOID:630 genetic disease ISO RGD:1344036 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11952735 CFAP53 cilia and flagella associated protein 53 gene DOID:758 situs inversus ISO RGD:1344036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence 11952735 CFAP53 cilia and flagella associated protein 53 gene DOID:9003212 Visceral Heterotaxy 6, Autosomal ISO RGD:1344036 D RGD:7240710 20190315 OMIM 11952735 CFAP53 cilia and flagella associated protein 53 gene DOID:9003212 Visceral Heterotaxy 6, Autosomal ISO RGD:1344036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 6, autosomal PMID:17576681|PMID:22577226|PMID:25504577|PMID:25741868|PMID:26531781|PMID:28492532|PMID:9536098 11952735 CFAP53 cilia and flagella associated protein 53 gene DOID:9565 dextrocardia ISO RGD:1344036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dextrocardia PMID:26531781 11952735 CFAP53 cilia and flagella associated protein 53 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1344036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome 11952749 SMAD4 SMAD family member 4 gene DOID:0050581 brachydactyly ISO RGD:1352527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22158539 11952749 SMAD4 SMAD family member 4 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1352527 D RGD:7240710 20180130 OMIM 11952749 SMAD4 SMAD family member 4 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1352527 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis syndrome | ClinVar Annotator: match by term: Polyposis familial of entire gastrointestinal tract PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:11977156|PMID:12417513|PMID:12686552|PMID:12740389|PMID:12801888|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15314162|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17362581|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21421563|PMID:21465659|PMID:21515830|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22243968|PMID:22316667|PMID:22331366|PMID:22561520|PMID:22585601|PMID:22683461|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24465805|PMID:24525918|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25326637|PMID:25373906|PMID:25502805|PMID:25523272|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26253951|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26636501|PMID:26681312|PMID:26689913|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27023170|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27562837|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28406602|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29955155|PMID:30210120|PMID:30251589|PMID:30256826|PMID:30267214|PMID:30374176|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31645765|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33745841|PMID:35307828|PMID:7296942|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 11952749 SMAD4 SMAD family member 4 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis syndrome | ClinVar Annotator: match by term: Polyposis familial of entire gastrointestinal tract PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:11977156|PMID:12417513|PMID:12686552|PMID:12740389|PMID:12801888|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15314162|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17362581|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:19135894|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21421563|PMID:21465659|PMID:21515830|PMID:21572342|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22243968|PMID:22316667|PMID:22331366|PMID:22561520|PMID:22585601|PMID:22683461|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:23805858|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24465805|PMID:24525918|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25373906|PMID:25502805|PMID:25523272|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26253951|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26636501|PMID:26681312|PMID:26689913|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27023170|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28406602|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28655553|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28827661|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29230941|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29773710|PMID:29955155|PMID:30210120|PMID:30251589|PMID:30256826|PMID:30267214|PMID:30374176|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30921096|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31645765|PMID:31654632|PMID:31684910|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32175297|PMID:32300199|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33745841|PMID:33824467|PMID:35307828|PMID:7296942|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9389648|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 11952749 SMAD4 SMAD family member 4 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1352527 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome | ClinVar Annotator: match by term: Polyposis familial of entire gastrointestinal tract PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:11977156|PMID:12417513|PMID:12686552|PMID:12740389|PMID:12801888|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15314162|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17362581|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:19135894|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21421563|PMID:21465659|PMID:21515830|PMID:21572342|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22243968|PMID:22316667|PMID:22331366|PMID:22561520|PMID:22585601|PMID:22683461|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:23805858|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24465805|PMID:24525918|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25373906|PMID:25502805|PMID:25523272|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26253951|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26636501|PMID:26681312|PMID:26689913|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27023170|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28406602|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28655553|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28827661|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29230941|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29773710|PMID:29955155|PMID:30210120|PMID:30251589|PMID:30256826|PMID:30267214|PMID:30374176|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30921096|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31645765|PMID:31654632|PMID:31684910|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32175297|PMID:32300199|PMID:32459922|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33097490|PMID:33745841|PMID:33824467|PMID:35307828|PMID:36194927|PMID:7296942|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9389648|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 11952749 SMAD4 SMAD family member 4 gene DOID:0050860 colorectal adenoma ISO RGD:1352527 D RGD:9068941 20200609 RGD mRNA:increased expression:mucosa PMID:11480790|REF_RGD_ID:21066339 11952749 SMAD4 SMAD family member 4 gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:24680176|REF_RGD_ID:12903951 11952749 SMAD4 SMAD family member 4 gene DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 ISO RGD:1352527 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 PMID:25741868 11952749 SMAD4 SMAD family member 4 gene DOID:0080000 muscular disease ISO RGD:1352527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22158539 11952749 SMAD4 SMAD family member 4 gene DOID:0080199 colorectal carcinoma disease_progression ISO RGD:1352527 D RGD:9068941 20200609 RGD PMID:26861460|REF_RGD_ID:21066335 11952749 SMAD4 SMAD family member 4 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1352527 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:29696816|REF_RGD_ID:18937002 11952749 SMAD4 SMAD family member 4 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:69092 D RGD:9068941 20200609 RGD PMID:29696816|REF_RGD_ID:18937002 11952749 SMAD4 SMAD family member 4 gene DOID:0111543 juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome ISO RGD:1352527 D RGD:7240710 20180130 OMIM 11952749 SMAD4 SMAD family member 4 gene DOID:0111543 juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome ISO RGD:1352527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI PMID:10398437|PMID:10441006|PMID:10479724|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:11977156|PMID:12116240|PMID:12417513|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15754356|PMID:16152648|PMID:16436638|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20301642|PMID:21465659|PMID:21515830|PMID:21835029|PMID:22158539|PMID:22243968|PMID:22316667|PMID:22331366|PMID:22585601|PMID:22683461|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22875147|PMID:23239472|PMID:23399955|PMID:23559152|PMID:24033266|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24465805|PMID:24580733|PMID:24715504|PMID:24841914|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26253951|PMID:26467025|PMID:26572829|PMID:26619011|PMID:26633542|PMID:26636501|PMID:26681312|PMID:26689913|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28283864|PMID:28406602|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28628100|PMID:28655553|PMID:28693246|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29230941|PMID:29634562|PMID:29684080|PMID:30210120|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30921096|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31684910|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32175297|PMID:32300199|PMID:32573726|PMID:32944796|PMID:33824467|PMID:36194927|PMID:6604412|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 11952749 SMAD4 SMAD family member 4 gene DOID:10534 stomach cancer ISO RGD:1352527 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:36988593 11952749 SMAD4 SMAD family member 4 gene DOID:1059 intellectual disability ISO RGD:1352527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:11977156|PMID:22158539|PMID:22243968|PMID:22585601|PMID:22683461|PMID:24398790|PMID:25741868|PMID:26636501|PMID:27302097|PMID:28406602|PMID:28492532|PMID:29230941|PMID:30921096|PMID:31837202|PMID:32175297|PMID:36194927 11952749 SMAD4 SMAD family member 4 gene DOID:11054 urinary bladder cancer ISO RGD:1352527 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:11783019|REF_RGD_ID:2299972 11952749 SMAD4 SMAD family member 4 gene DOID:1107 esophageal carcinoma ISO RGD:1352527 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12116240|PMID:12821112|PMID:14715079|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:6604412|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 11952749 SMAD4 SMAD family member 4 gene DOID:1107 esophageal carcinoma ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12116240|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:6604412|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 11952749 SMAD4 SMAD family member 4 gene DOID:12347 osteogenesis imperfecta ISO RGD:69092 D RGD:9068941 20220825 MouseDO 11952749 SMAD4 SMAD family member 4 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1352527 D RGD:9068941 20200609 RGD DNA:missense,frameshift, nonsense mutations:exons: PMID:16613914|REF_RGD_ID:11035218 11952749 SMAD4 SMAD family member 4 gene DOID:1324 lung cancer ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:21515830|PMID:24465805|PMID:26253951 11952749 SMAD4 SMAD family member 4 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10790223|PMID:15288293|PMID:21835029|PMID:22703879|PMID:23399955|PMID:24465802|PMID:24728327|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26580448|PMID:27146957|PMID:27153395|PMID:27443514|PMID:28196074|PMID:28492532|PMID:28726808|PMID:28873162|PMID:29069792|PMID:29212164|PMID:29743074|PMID:30426508|PMID:30719162|PMID:30842500|PMID:31159747|PMID:31758407|PMID:32066632|PMID:32068069|PMID:32573726|PMID:33745841 11952749 SMAD4 SMAD family member 4 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:12686552|PMID:12740389|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21465659|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22316667|PMID:22331366|PMID:22561520|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22826269|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:23805858|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25252015|PMID:25318351|PMID:25502805|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28655553|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29955155|PMID:30210120|PMID:30256826|PMID:30267214|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33745841|PMID:33824467|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 11952749 SMAD4 SMAD family member 4 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1352527 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:12686552|PMID:12740389|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17362581|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21465659|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22316667|PMID:22331366|PMID:22561520|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22826269|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:23805858|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25252015|PMID:25318351|PMID:25502805|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28655553|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29955155|PMID:30210120|PMID:30256826|PMID:30267214|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32459922|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33097490|PMID:33745841|PMID:33824467|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 11952749 SMAD4 SMAD family member 4 gene DOID:14654 prostatitis ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:20608350|REF_RGD_ID:12880046 11952749 SMAD4 SMAD family member 4 gene DOID:1520 colon carcinoma ISO RGD:1352527 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10398437|PMID:11920286|PMID:15235019|PMID:16152648|PMID:16436638|PMID:17873119|PMID:18355998|PMID:18823382|PMID:20301642|PMID:22316667|PMID:22748914|PMID:22810475|PMID:22875147|PMID:23239472|PMID:23399955|PMID:24033266|PMID:25741868|PMID:26171675|PMID:26467025|PMID:26681312|PMID:27375208|PMID:27613157|PMID:28492532|PMID:28944238|PMID:29634562|PMID:30210120|PMID:9582123 11952749 SMAD4 SMAD family member 4 gene DOID:1561 cognitive disorder ISO RGD:1352527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22158539 11952749 SMAD4 SMAD family member 4 gene DOID:1612 breast cancer ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:26467025|PMID:28492532 11952749 SMAD4 SMAD family member 4 gene DOID:1793 pancreatic cancer ISO RGD:1352527 D RGD:7240710 20180130 OMIM 11952749 SMAD4 SMAD family member 4 gene DOID:2154 nephroblastoma ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephroblastoma PMID:25741868|PMID:28492532 11952749 SMAD4 SMAD family member 4 gene DOID:219 colon cancer severity ISO RGD:1352527 D RGD:9068941 20220623 RGD mRNA:decreased expression:colon (human) PMID:31932471|REF_RGD_ID:152995462 11952749 SMAD4 SMAD family member 4 gene DOID:219 colon cancer treatment ISO RGD:3033 D RGD:9068941 20210611 RGD PMID:33360052|REF_RGD_ID:127229954 11952749 SMAD4 SMAD family member 4 gene DOID:2213 hemorrhagic disease ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 11952749 SMAD4 SMAD family member 4 gene DOID:2394 ovarian cancer ISO RGD:1352527 D RGD:9068941 20200609 RGD DNA:missense mutation PMID:10451707|REF_RGD_ID:2299976 11952749 SMAD4 SMAD family member 4 gene DOID:2394 ovarian cancer ISO RGD:1352527 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary PMID:16951150|REF_RGD_ID:2299979 11952749 SMAD4 SMAD family member 4 gene DOID:2526 prostate adenocarcinoma ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:12116240|PMID:15031030|PMID:26619011|PMID:6604412 11952749 SMAD4 SMAD family member 4 gene DOID:2671 transitional cell carcinoma ISO RGD:1352527 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:16859125|REF_RGD_ID:2299980 11952749 SMAD4 SMAD family member 4 gene DOID:2871 endometrial carcinoma ISO RGD:1352527 D RGD:9068941 20200609 RGD DNA:substitutions:promoter PMID:10331746|REF_RGD_ID:2300009 11952749 SMAD4 SMAD family member 4 gene DOID:2871 endometrial carcinoma severity ISO RGD:1352527 D RGD:9068941 20200609 RGD mRNA:decreased expression:endometrium PMID:15385128|REF_RGD_ID:2299966 11952749 SMAD4 SMAD family member 4 gene DOID:3008 invasive ductal carcinoma ISO RGD:1352527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20565773 11952749 SMAD4 SMAD family member 4 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:18375249|REF_RGD_ID:9999419 11952749 SMAD4 SMAD family member 4 gene DOID:3119 gastrointestinal system cancer ISO RGD:1352527 D RGD:9068941 20200609 RGD associated with Juvenile Polyposis Syndrome PMID:25389115|REF_RGD_ID:12880036 11952749 SMAD4 SMAD family member 4 gene DOID:3121 gallbladder cancer ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gallbladder cancer PMID:10479724|PMID:10764709|PMID:16152648|PMID:16436638|PMID:21465659|PMID:22810475|PMID:23239472|PMID:25931195|PMID:26689913|PMID:28492532 11952749 SMAD4 SMAD family member 4 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1352527 D RGD:9068941 20200609 RGD PMID:15173084|REF_RGD_ID:21066334 11952749 SMAD4 SMAD family member 4 gene DOID:3717 gastric adenocarcinoma ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12116240|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:6604412|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 11952749 SMAD4 SMAD family member 4 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:22558986|REF_RGD_ID:12880048 11952749 SMAD4 SMAD family member 4 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:3033 D RGD:9068941 20200609 RGD associated with Silicosis PMID:21941776|REF_RGD_ID:12880047 11952749 SMAD4 SMAD family member 4 gene DOID:3883 Lynch syndrome ISO RGD:1352527 D RGD:9068941 20200609 RGD PMID:10819637|REF_RGD_ID:1599900 11952749 SMAD4 SMAD family member 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1352527 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12116240|PMID:12821112|PMID:14715079|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:32300199|PMID:32573726|PMID:32944796|PMID:6604412|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 11952749 SMAD4 SMAD family member 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12116240|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:6604412|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 11952749 SMAD4 SMAD family member 4 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12116240|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:6604412|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 11952749 SMAD4 SMAD family member 4 gene DOID:4362 cervical cancer ISO RGD:1352527 D RGD:9068941 20200609 RGD mRNA:decreased expression:uterine cervix PMID:12894231|REF_RGD_ID:2299968 11952749 SMAD4 SMAD family member 4 gene DOID:4440 seminoma ISO RGD:1352527 D RGD:9068941 20200609 RGD DNA, protein:insertion, decreased expression:1521insT PMID:10706106|REF_RGD_ID:2299975 11952749 SMAD4 SMAD family member 4 gene DOID:4450 renal cell carcinoma severity ISO RGD:1352527 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:11332076|REF_RGD_ID:2299973 11952749 SMAD4 SMAD family member 4 gene DOID:4905 pancreatic carcinoma ISO RGD:1352527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:10398437|PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11920286|PMID:11977156|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16152648|PMID:16436638|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22158539|PMID:22243968|PMID:22316667|PMID:22331366|PMID:22585601|PMID:22683461|PMID:22748914|PMID:22810475|PMID:23239472|PMID:23399955|PMID:23559152|PMID:24033266|PMID:24398790|PMID:24424121|PMID:24580733|PMID:24715504|PMID:24841914|PMID:25186627|PMID:25559809|PMID:25741868|PMID:25980754|PMID:26171675|PMID:26467025|PMID:26619011|PMID:26633542|PMID:26636501|PMID:26681312|PMID:26900293|PMID:26956206|PMID:27302097|PMID:27375208|PMID:27595937|PMID:27978560|PMID:28135145|PMID:28283864|PMID:28406602|PMID:28492532|PMID:28528518|PMID:28628100|PMID:28944238|PMID:29230941|PMID:29634562|PMID:29684080|PMID:30210120|PMID:30719162|PMID:30809044|PMID:30921096|PMID:30968316|PMID:31474762|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32175297|PMID:32300199|PMID:33824467|PMID:36194927|PMID:8653691|PMID:8898652|PMID:9582123|PMID:9679244|PMID:9811934 11952749 SMAD4 SMAD family member 4 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1352527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23525077|PMID:24952744 11952749 SMAD4 SMAD family member 4 gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:1352527 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:intrahepatic bile duct PMID:16917866|REF_RGD_ID:18936999 11952749 SMAD4 SMAD family member 4 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1352527 D RGD:9068941 20200609 RGD PMID:23981608|REF_RGD_ID:21066336 11952749 SMAD4 SMAD family member 4 gene DOID:4947 cholangiocarcinoma ISO RGD:1352527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 11952749 SMAD4 SMAD family member 4 gene DOID:520 aortic disease ISO RGD:1352527 D RGD:9068941 20200609 RGD associated with Juvenile Polyposis Syndrome PMID:25931195|REF_RGD_ID:11062588 11952749 SMAD4 SMAD family member 4 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 11952749 SMAD4 SMAD family member 4 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1352527 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer PMID:25741868 11952749 SMAD4 SMAD family member 4 gene DOID:5844 myocardial infarction treatment ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:11087260|REF_RGD_ID:12903276 11952749 SMAD4 SMAD family member 4 gene DOID:6225 Cronkhite-Canada syndrome ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal polyposis PMID:21835029|PMID:22703879|PMID:23399955|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25589618|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:27153395|PMID:27443514|PMID:28196074|PMID:28492532|PMID:30842500|PMID:32573726 11952749 SMAD4 SMAD family member 4 gene DOID:630 genetic disease ISO RGD:1352527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11977156|PMID:17576681|PMID:22158539|PMID:22243968|PMID:22585601|PMID:22683461|PMID:24033266|PMID:24398790|PMID:24424121|PMID:24580733|PMID:24715504|PMID:24841914|PMID:25741868|PMID:26633542|PMID:26636501|PMID:27302097|PMID:28406602|PMID:28492532|PMID:28628100|PMID:29230941|PMID:30921096|PMID:30968316|PMID:31474762|PMID:31595668|PMID:31654632|PMID:31837202|PMID:32175297|PMID:36194927|PMID:9536098 11952749 SMAD4 SMAD family member 4 gene DOID:6432 pulmonary hypertension ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:17347486|PMID:18367643|REF_RGD_ID:12903274|REF_RGD_ID:1643222 11952749 SMAD4 SMAD family member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1352527 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:22799322|REF_RGD_ID:21066341 11952749 SMAD4 SMAD family member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1352527 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:29924446|REF_RGD_ID:21066342 11952749 SMAD4 SMAD family member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:18971187|REF_RGD_ID:12880056 11952749 SMAD4 SMAD family member 4 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352527 D RGD:9068941 20200609 RGD PMID:23922662|REF_RGD_ID:18182921 11952749 SMAD4 SMAD family member 4 gene DOID:8552 chronic myeloid leukemia ISO RGD:1352527 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood PMID:29951173|REF_RGD_ID:13782079 11952749 SMAD4 SMAD family member 4 gene DOID:8634 prostate carcinoma in situ ISO RGD:1352527 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:15017584|REF_RGD_ID:2300005 11952749 SMAD4 SMAD family member 4 gene DOID:8725 vascular dementia ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:28492532|PMID:35307828 11952749 SMAD4 SMAD family member 4 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1352527 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:11809701|REF_RGD_ID:2300007 11952749 SMAD4 SMAD family member 4 gene DOID:9000099 Experimental Colitis susceptibility ISO RGD:69092 D RGD:9068941 20200609 RGD PMID:23090737|REF_RGD_ID:12880038 11952749 SMAD4 SMAD family member 4 gene DOID:9000217 Stomach Neoplasms ISO RGD:1352527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21105199 11952749 SMAD4 SMAD family member 4 gene DOID:9000838 Growth Mental Deficiency Syndrome of Myhre ISO RGD:1352527 D RGD:7240710 20180130 OMIM 11952749 SMAD4 SMAD family member 4 gene DOID:9000838 Growth Mental Deficiency Syndrome of Myhre ISO RGD:1352527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Myhre syndrome PMID:10398437|PMID:10479724|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:11274206|PMID:11782434|PMID:11920286|PMID:11977156|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:16152648|PMID:16436638|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20301642|PMID:21153778|PMID:21515830|PMID:21835029|PMID:22158539|PMID:22243968|PMID:22316667|PMID:22331366|PMID:22585601|PMID:22683461|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22843233|PMID:22875147|PMID:23239472|PMID:23399955|PMID:23559152|PMID:24033266|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24465805|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24841914|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25980754|PMID:26171675|PMID:26253951|PMID:26467025|PMID:26619011|PMID:26633542|PMID:26636501|PMID:26681312|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28283864|PMID:28406602|PMID:28492532|PMID:28528518|PMID:28628100|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29230941|PMID:29634562|PMID:29684080|PMID:30210120|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30921096|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32175297|PMID:32300199|PMID:32573726|PMID:33824467|PMID:36194927|PMID:7296942|PMID:8898652|PMID:9582123|PMID:9679244|PMID:9811934 11952749 SMAD4 SMAD family member 4 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1352527 D RGD:9068941 20200609 RGD associated with colorectal carcinoma;DNA:mutation:cds: PMID:10340381|REF_RGD_ID:21066333 11952749 SMAD4 SMAD family member 4 gene DOID:9001402 Acro-Osteolysis ISO RGD:1352527 D RGD:9068941 20200609 RGD associated with Juvenile Polyposis Syndrome;DNA:nonsense mutation:exon:p.Y412X (1236C>G) (human) PMID:15990641|REF_RGD_ID:12880041 11952749 SMAD4 SMAD family member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16570350 11952749 SMAD4 SMAD family member 4 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:19824107|REF_RGD_ID:12903949 11952749 SMAD4 SMAD family member 4 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1352527 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25559809|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29684080 11952749 SMAD4 SMAD family member 4 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:3033 D RGD:9068941 20200609 RGD mRNA:increased expression:hypoglossal nucleus PMID:17166487|REF_RGD_ID:1643227 11952749 SMAD4 SMAD family member 4 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1352527 D RGD:9068941 20200609 RGD PMID:15042598|REF_RGD_ID:2299981 11952749 SMAD4 SMAD family member 4 gene DOID:9002350 Hereditary Hemorrhagic Telangiectasia, Type 1 ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 11952749 SMAD4 SMAD family member 4 gene DOID:9002504 Odontogenic Cysts ISO RGD:69092 D RGD:9068941 20200609 RGD PMID:19703995|REF_RGD_ID:12880040 11952749 SMAD4 SMAD family member 4 gene DOID:9003155 Parasitic Liver Diseases ISO RGD:1352527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 11952749 SMAD4 SMAD family member 4 gene DOID:9003295 Heterotopic Ossification ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:19940863|REF_RGD_ID:12880052 11952749 SMAD4 SMAD family member 4 gene DOID:9003342 Microphthalmia, Cataracts, and Iris Abnormalities ISO RGD:69092 D RGD:9068941 20200609 RGD PMID:20735985|REF_RGD_ID:12880033 11952749 SMAD4 SMAD family member 4 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1352527 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12821112|PMID:14715079|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 11952749 SMAD4 SMAD family member 4 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 11952749 SMAD4 SMAD family member 4 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1352527 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:29924446|REF_RGD_ID:21066342 11952749 SMAD4 SMAD family member 4 gene DOID:9004739 Cicatrix treatment ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:21255090|REF_RGD_ID:12880045 11952749 SMAD4 SMAD family member 4 gene DOID:9006113 Gallstones ISO RGD:1352527 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:intrahepatic bile duct PMID:16917866|REF_RGD_ID:18936999 11952749 SMAD4 SMAD family member 4 gene DOID:9006618 Liver Metastasis ISO RGD:1352527 D RGD:9068941 20200609 RGD associated with colorectal carcinoma;protein:decreased expression:colorectum: PMID:17390050|REF_RGD_ID:21066338 11952749 SMAD4 SMAD family member 4 gene DOID:9006618 Liver Metastasis treatment ISO RGD:1352527 D RGD:9068941 20200609 RGD associated with colorectal carcinoma; DNA:mutations: : PMID:29551247|REF_RGD_ID:18937000 11952749 SMAD4 SMAD family member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352527 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:12417513|PMID:12821112|PMID:14715079|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15350224|PMID:15754356|PMID:16152648|PMID:16436638|PMID:16613914|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20685751|PMID:21153778|PMID:21465659|PMID:21835029|PMID:21898662|PMID:22316667|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25326637|PMID:25502805|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26845104|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28628100|PMID:28655553|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29684080|PMID:29743074|PMID:30256826|PMID:30267214|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33745841|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 11952749 SMAD4 SMAD family member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352527 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:12417513|PMID:12821112|PMID:14715079|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15350224|PMID:15754356|PMID:16152648|PMID:16436638|PMID:16613914|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21465659|PMID:21835029|PMID:21898662|PMID:22316667|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25502805|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26845104|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28628100|PMID:28655553|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29684080|PMID:29743074|PMID:30256826|PMID:30267214|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33745841|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 11952749 SMAD4 SMAD family member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352527 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:12417513|PMID:12686552|PMID:12740389|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21465659|PMID:21835029|PMID:21898662|PMID:22316667|PMID:22561520|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22826269|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25252015|PMID:25318351|PMID:25502805|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29955155|PMID:30210120|PMID:30256826|PMID:30267214|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33745841|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 11952749 SMAD4 SMAD family member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352527 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:12417513|PMID:12686552|PMID:12740389|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21465659|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22316667|PMID:22561520|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22826269|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25252015|PMID:25318351|PMID:25326637|PMID:25502805|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29955155|PMID:30210120|PMID:30256826|PMID:30267214|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33745841|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 11952749 SMAD4 SMAD family member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352527 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:12417513|PMID:12686552|PMID:12740389|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17362581|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21465659|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22316667|PMID:22331366|PMID:22561520|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22826269|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:23805858|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25252015|PMID:25318351|PMID:25502805|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28655553|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29955155|PMID:30210120|PMID:30251589|PMID:30256826|PMID:30267214|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32459922|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33097490|PMID:33745841|PMID:33824467|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 11952749 SMAD4 SMAD family member 4 gene DOID:9007329 Human Viral Hepatitis ISO RGD:1352527 D RGD:9068941 20200609 RGD associated with hepatocellular carcinoma; protein:altered expression:liver PMID:22799322|REF_RGD_ID:21066341 11952749 SMAD4 SMAD family member 4 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:22913380|REF_RGD_ID:12903950 11952749 SMAD4 SMAD family member 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12116240|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:6604412|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 11952749 SMAD4 SMAD family member 4 gene DOID:9008681 Deafness ISO RGD:1352527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22158539 11952749 SMAD4 SMAD family member 4 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1352527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22158539 11952749 SMAD4 SMAD family member 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:32300199|PMID:32573726|PMID:32944796|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 11952749 SMAD4 SMAD family member 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1352527 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12821112|PMID:14715079|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 11952749 SMAD4 SMAD family member 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 11952749 SMAD4 SMAD family member 4 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:21898662|PMID:24728327|PMID:25502805|PMID:25741868|PMID:26387786|PMID:28492532|PMID:31515488 11952749 SMAD4 SMAD family member 4 gene DOID:9256 colorectal cancer ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 11952749 SMAD4 SMAD family member 4 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:25017203|REF_RGD_ID:12880049 11952765 EFCAB2 EF-hand calcium binding domain 2 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1604261 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11952765 EFCAB2 EF-hand calcium binding domain 2 gene DOID:0080600 COVID-19 ISO RGD:1604261 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 11952765 EFCAB2 EF-hand calcium binding domain 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1604261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11952765 EFCAB2 EF-hand calcium binding domain 2 gene DOID:630 genetic disease ISO RGD:1604261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11952765 EFCAB2 EF-hand calcium binding domain 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11952777 ZPLD1 zona pellucida like domain containing 1 gene DOID:630 genetic disease ISO RGD:1606973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11952816 HSD17B1 hydroxysteroid 17-beta dehydrogenase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736216 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11952816 HSD17B1 hydroxysteroid 17-beta dehydrogenase 1 gene DOID:0111394 mucopolysaccharidosis type IIIB ISO RGD:736216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B PMID:28492532 11952816 HSD17B1 hydroxysteroid 17-beta dehydrogenase 1 gene DOID:289 endometriosis ISO RGD:736216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18815356 11952816 HSD17B1 hydroxysteroid 17-beta dehydrogenase 1 gene DOID:3008 invasive ductal carcinoma severity ISO RGD:736216 D RGD:9068941 20200609 RGD protein:decreased expression:ductal breast carcinoma (human) PMID:10682658|REF_RGD_ID:4890946 11952816 HSD17B1 hydroxysteroid 17-beta dehydrogenase 1 gene DOID:630 genetic disease ISO RGD:736216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11952816 HSD17B1 hydroxysteroid 17-beta dehydrogenase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17507624 11952816 HSD17B1 hydroxysteroid 17-beta dehydrogenase 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:736216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11952825 ACTR6 actin related protein 6 gene DOID:630 genetic disease ISO RGD:1312146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11952855 KAT7 lysine acetyltransferase 7 gene DOID:10283 prostate cancer ISO RGD:737003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11952855 KAT7 lysine acetyltransferase 7 gene DOID:1612 breast cancer severity ISO RGD:737003 D RGD:9068941 20200609 RGD protein:increased expression:breast (human) PMID:21040551|REF_RGD_ID:9681004 11952855 KAT7 lysine acetyltransferase 7 gene DOID:4674 androgen insensitivity syndrome ISO RGD:737003 D RGD:9068941 20200609 RGD protein:decreased expression:testes (human) PMID:23707616|REF_RGD_ID:9681005 11952855 KAT7 lysine acetyltransferase 7 gene DOID:630 genetic disease ISO RGD:737003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11952903 LOC100969024 keratin-associated protein 9-1 gene DOID:630 genetic disease ISO RGD:1347378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11952907 SNX15 sorting nexin 15 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1314058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11952907 SNX15 sorting nexin 15 gene DOID:1059 intellectual disability ISO RGD:1314058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11952907 SNX15 sorting nexin 15 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1314058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11952907 SNX15 sorting nexin 15 gene DOID:2746 glycogen storage disease V ISO RGD:1314058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11952907 SNX15 sorting nexin 15 gene DOID:3070 high grade glioma ISO RGD:1314058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11952907 SNX15 sorting nexin 15 gene DOID:630 genetic disease ISO RGD:1314058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11952928 DFFB DNA fragmentation factor subunit beta gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:731033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11952928 DFFB DNA fragmentation factor subunit beta gene DOID:11372 megacolon ISO RGD:731033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11952928 DFFB DNA fragmentation factor subunit beta gene DOID:224 transient cerebral ischemia ISO RGD:620335 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hippocampus CA1 PMID:11425895|REF_RGD_ID:628524 11952928 DFFB DNA fragmentation factor subunit beta gene DOID:630 genetic disease ISO RGD:731033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11952928 DFFB DNA fragmentation factor subunit beta gene DOID:9004203 Chromosome Breakage ISO RGD:731033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31401084 11952928 DFFB DNA fragmentation factor subunit beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11952948 C1H1orf174 chromosome 1 C1orf174 homolog gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11952948 C1H1orf174 chromosome 1 C1orf174 homolog gene DOID:11372 megacolon ISO RGD:1603248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11952948 C1H1orf174 chromosome 1 C1orf174 homolog gene DOID:630 genetic disease ISO RGD:1603248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11952948 C1H1orf174 chromosome 1 C1orf174 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11952959 TAGLN2 transgelin 2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1321972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11952959 TAGLN2 transgelin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1321972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11952959 TAGLN2 transgelin 2 gene DOID:4450 renal cell carcinoma ISO RGD:1321972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 11952959 TAGLN2 transgelin 2 gene DOID:5082 liver cirrhosis ISO RGD:1321972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11952959 TAGLN2 transgelin 2 gene DOID:630 genetic disease ISO RGD:1321972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11952959 TAGLN2 transgelin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1321972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11952959 TAGLN2 transgelin 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1321972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11952959 TAGLN2 transgelin 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11952959 TAGLN2 transgelin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11952968 GIP gastric inhibitory polypeptide gene DOID:11465 autonomic nervous system disease ISO RGD:1353884 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human) PMID:18376350|REF_RGD_ID:2312592 11952968 GIP gastric inhibitory polypeptide gene DOID:11612 polycystic ovary syndrome ISO RGD:1353884 D RGD:9068941 20200609 RGD associated with Obesity; protein:increased expression:plasma (human) PMID:19375579|REF_RGD_ID:2312588 11952968 GIP gastric inhibitory polypeptide gene DOID:1459 hypothyroidism ISO RGD:2709 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:9030821|REF_RGD_ID:2312549 11952968 GIP gastric inhibitory polypeptide gene DOID:2018 hyperinsulinism ISO RGD:2709 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (rat) PMID:8059006|REF_RGD_ID:2312550 11952968 GIP gastric inhibitory polypeptide gene DOID:26 pancreas disease ISO RGD:2709 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:3892654|REF_RGD_ID:2312553 11952968 GIP gastric inhibitory polypeptide gene DOID:4195 hyperglycemia ISO RGD:1353884 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human) PMID:19174495|REF_RGD_ID:2312590 11952968 GIP gastric inhibitory polypeptide gene DOID:630 genetic disease ISO RGD:1353884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11952968 GIP gastric inhibitory polypeptide gene DOID:9001109 Anorexia ISO RGD:1353884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28633506|PMID:28666375|PMID:29689362 11952968 GIP gastric inhibitory polypeptide gene DOID:9005587 Starvation ISO RGD:2709 D RGD:9068941 20200609 RGD protein:increased expression:duodenum, jejunum (rat) PMID:6140913|REF_RGD_ID:2312554 11952968 GIP gastric inhibitory polypeptide gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2709 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (rat) PMID:12789546|REF_RGD_ID:2312548 11952968 GIP gastric inhibitory polypeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353884 D RGD:9068941 20200609 RGD PMID:19473824|REF_RGD_ID:2312587 11952968 GIP gastric inhibitory polypeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353884 D RGD:9068941 20200609 RGD disease in rat treated with human protein PMID:19126188|REF_RGD_ID:2312591 11952968 GIP gastric inhibitory polypeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:1552008 D RGD:9068941 20200609 RGD PMID:18937625|REF_RGD_ID:2312589 11952968 GIP gastric inhibitory polypeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:2709 D RGD:9068941 20200609 RGD PMID:19056762|REF_RGD_ID:2312529 11952968 GIP gastric inhibitory polypeptide gene DOID:9970 obesity ISO RGD:1353884 D RGD:9068941 20200609 RGD PMID:3546047|REF_RGD_ID:2312551 11952968 GIP gastric inhibitory polypeptide gene DOID:9970 obesity ISO RGD:1353884 D RGD:9068941 20200609 RGD associated with Polycystic Ovary Syndrome; protein:increased expression:plasma (human) PMID:19375579|REF_RGD_ID:2312588 11952968 GIP gastric inhibitory polypeptide gene DOID:9970 obesity ISO RGD:2709 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:18063845|REF_RGD_ID:2312547 11952973 LOC100978567 olfactory receptor 7C1 gene DOID:630 genetic disease ISO RGD:1343510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11952986 SP140L SP140 nuclear body protein like gene DOID:0060476 Perlman syndrome ISO RGD:1604252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11952986 SP140L SP140 nuclear body protein like gene DOID:0110991 Joubert syndrome 22 ISO RGD:1604252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11952986 SP140L SP140 nuclear body protein like gene DOID:630 genetic disease ISO RGD:1604252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953011 USP33 ubiquitin specific peptidase 33 gene DOID:630 genetic disease ISO RGD:1317280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953077 UBQLN4 ubiquilin 4 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1344813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11953077 UBQLN4 ubiquilin 4 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1344813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 11953077 UBQLN4 ubiquilin 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1344813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11953077 UBQLN4 ubiquilin 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11953077 UBQLN4 ubiquilin 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11953077 UBQLN4 ubiquilin 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1344813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11953077 UBQLN4 ubiquilin 4 gene DOID:5812 MHC class II deficiency ISO RGD:1344813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11953077 UBQLN4 ubiquilin 4 gene DOID:630 genetic disease ISO RGD:1344813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953077 UBQLN4 ubiquilin 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11953091 LRRC69 leucine rich repeat containing 69 gene DOID:630 genetic disease ISO RGD:2293909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953103 CD33 CD33 molecule gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1347694 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:16510302|PMID:23785301|PMID:28492532 11953103 CD33 CD33 molecule gene DOID:10652 Alzheimer's disease ISO RGD:1347694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21460840|PMID:21460841 11953103 CD33 CD33 molecule gene DOID:630 genetic disease ISO RGD:1347694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953103 CD33 CD33 molecule gene DOID:9119 acute myeloid leukemia ISO RGD:1347694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12921496 11953129 TRIM50 tripartite motif containing 50 gene DOID:0060041 autism spectrum disorder ISO RGD:735660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 11953129 TRIM50 tripartite motif containing 50 gene DOID:10923 sickle cell anemia ISO RGD:735660 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 11953129 TRIM50 tripartite motif containing 50 gene DOID:12849 autistic disorder ISO RGD:735660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11953129 TRIM50 tripartite motif containing 50 gene DOID:1928 Williams-Beuren syndrome ISO RGD:735660 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 11953129 TRIM50 tripartite motif containing 50 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11953129 TRIM50 tripartite motif containing 50 gene DOID:5419 schizophrenia ISO RGD:735660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11953129 TRIM50 tripartite motif containing 50 gene DOID:630 genetic disease ISO RGD:735660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953129 TRIM50 tripartite motif containing 50 gene DOID:8445 intestinal volvulus ISO RGD:735660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11953129 TRIM50 tripartite motif containing 50 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11953129 TRIM50 tripartite motif containing 50 gene DOID:9008419 Volvulus Of Midgut ISO RGD:735660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11953137 KCND1 potassium voltage-gated channel subfamily D member 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11953137 KCND1 potassium voltage-gated channel subfamily D member 1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1347714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 11953137 KCND1 potassium voltage-gated channel subfamily D member 1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1347714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11953137 KCND1 potassium voltage-gated channel subfamily D member 1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1347714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11953137 KCND1 potassium voltage-gated channel subfamily D member 1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1347714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11953137 KCND1 potassium voltage-gated channel subfamily D member 1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1347714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 11953137 KCND1 potassium voltage-gated channel subfamily D member 1 gene DOID:12849 autistic disorder ISO RGD:1347714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11953137 KCND1 potassium voltage-gated channel subfamily D member 1 gene DOID:630 genetic disease ISO RGD:1347714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953137 KCND1 potassium voltage-gated channel subfamily D member 1 gene DOID:9007661 Dwarfism ISO RGD:1347714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11953148 PATJ PATJ crumbs cell polarity complex component gene DOID:1059 intellectual disability ISO RGD:1604056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11953148 PATJ PATJ crumbs cell polarity complex component gene DOID:303 substance-related disorder ISO RGD:1604056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11953148 PATJ PATJ crumbs cell polarity complex component gene DOID:630 genetic disease ISO RGD:1604056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953148 PATJ PATJ crumbs cell polarity complex component gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11953206 LOC100984497 histone H2B type 2-F gene DOID:1540 parathyroid carcinoma ISO RGD:1603451 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11953206 LOC100984497 histone H2B type 2-F gene DOID:630 genetic disease ISO RGD:1603451 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953206 LOC100984497 histone H2B type 2-F gene DOID:9006862 PERITONEAL GLIOMATOSIS ISO RGD:1603451 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Peritoneal Gliomatosis 11953206 LOC100984497 histone H2B type 2-F gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603451 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11953222 RAB6B RAB6B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1320580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953222 RAB6B RAB6B, member RAS oncogene family gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1320580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 11953234 MIA3 MIA SH3 domain ER export factor 3 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1605216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 11953234 MIA3 MIA SH3 domain ER export factor 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1605216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11953234 MIA3 MIA SH3 domain ER export factor 3 gene DOID:3393 coronary artery disease ISO RGD:1605216 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Coronary artery disease PMID:25741868 11953234 MIA3 MIA SH3 domain ER export factor 3 gene DOID:5844 myocardial infarction ISO RGD:1605216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19198609 11953234 MIA3 MIA SH3 domain ER export factor 3 gene DOID:630 genetic disease ISO RGD:1605216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953234 MIA3 MIA SH3 domain ER export factor 3 gene DOID:9002545 Odontochondrodysplasia 2 with Hearing Loss and Diabetes ISO RGD:1605216 D RGD:7240710 20210414 OMIM 11953234 MIA3 MIA SH3 domain ER export factor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11953275 BOK BCL2 family apoptosis regulator BOK gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:737138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11953275 BOK BCL2 family apoptosis regulator BOK gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:737138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11953275 BOK BCL2 family apoptosis regulator BOK gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:737138 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11953275 BOK BCL2 family apoptosis regulator BOK gene DOID:1059 intellectual disability ISO RGD:737138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11953275 BOK BCL2 family apoptosis regulator BOK gene DOID:10908 hydrocephalus ISO RGD:70984 D RGD:9068941 20200609 RGD mRNA:increased expression:brain:Hydrocephalus-Texas (HTX, RS:0000399) vs. SD (RS:0000681) rats PMID:15964663|REF_RGD_ID:1624238 11953275 BOK BCL2 family apoptosis regulator BOK gene DOID:630 genetic disease ISO RGD:737138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953275 BOK BCL2 family apoptosis regulator BOK gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:737138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11953289 POLR3H RNA polymerase III subunit H gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1314191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11953289 POLR3H RNA polymerase III subunit H gene DOID:0050883 infantile cerebellar-retinal degeneration ISO RGD:1314191 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration PMID:24088041|PMID:25351951|PMID:25741868|PMID:26992325|PMID:28492532|PMID:29564393|PMID:30689204|PMID:31130284|PMID:32519519 11953289 POLR3H RNA polymerase III subunit H gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1314191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 11953289 POLR3H RNA polymerase III subunit H gene DOID:0111442 optic atrophy 9 ISO RGD:1314191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Optic atrophy 9 PMID:25351951|PMID:25741868|PMID:28492532|PMID:32449285|PMID:34056600 11953289 POLR3H RNA polymerase III subunit H gene DOID:5426 primary ovarian insufficiency ISO RGD:1314192 D RGD:9068941 20220825 MouseDO 11953289 POLR3H RNA polymerase III subunit H gene DOID:630 genetic disease ISO RGD:1314191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:30689204|PMID:32519519|PMID:9536098 11953303 SENP2 SUMO specific peptidase 2 gene DOID:0111546 Currarino syndrome ISO RGD:1351152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11953303 SENP2 SUMO specific peptidase 2 gene DOID:630 genetic disease ISO RGD:1351152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953303 SENP2 SUMO specific peptidase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351152 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29535048 11953303 SENP2 SUMO specific peptidase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351152 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29535048 11953328 ZNF560 zinc finger protein 560 gene DOID:10283 prostate cancer ISO RGD:1347483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11953328 ZNF560 zinc finger protein 560 gene DOID:12849 autistic disorder ISO RGD:1347483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11953328 ZNF560 zinc finger protein 560 gene DOID:630 genetic disease ISO RGD:1347483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953353 CCDC112 coiled-coil domain containing 112 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606143 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11953353 CCDC112 coiled-coil domain containing 112 gene DOID:12849 autistic disorder ISO RGD:1606143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11953353 CCDC112 coiled-coil domain containing 112 gene DOID:630 genetic disease ISO RGD:1606143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953353 CCDC112 coiled-coil domain containing 112 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11953353 CCDC112 coiled-coil domain containing 112 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606143 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11953369 CORO1C coronin 1C gene DOID:2986 IgA glomerulonephritis ISO RGD:1314425 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 11953369 CORO1C coronin 1C gene DOID:3908 lung non-small cell carcinoma ISO RGD:1314425 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 11953369 CORO1C coronin 1C gene DOID:630 genetic disease ISO RGD:1314425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953390 SYNE4 spectrin repeat containing nuclear envelope family member 4 gene DOID:0050563 nonsyndromic deafness ISO RGD:1602427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness PMID:23348741|PMID:24033266|PMID:28492532|PMID:28958982 11953390 SYNE4 spectrin repeat containing nuclear envelope family member 4 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1602427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11953390 SYNE4 spectrin repeat containing nuclear envelope family member 4 gene DOID:0110524 autosomal recessive nonsyndromic deafness 76 ISO RGD:1602427 D RGD:7240710 20180130 OMIM 11953390 SYNE4 spectrin repeat containing nuclear envelope family member 4 gene DOID:0110524 autosomal recessive nonsyndromic deafness 76 ISO RGD:1602427 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 76 PMID:23348741|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28958982|PMID:35802133|PMID:36633841 11953390 SYNE4 spectrin repeat containing nuclear envelope family member 4 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1602427 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11953390 SYNE4 spectrin repeat containing nuclear envelope family member 4 gene DOID:630 genetic disease ISO RGD:1602427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 11953407 FAM47C family with sequence similarity 47 member C gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11953407 FAM47C family with sequence similarity 47 member C gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1605768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 11953407 FAM47C family with sequence similarity 47 member C gene DOID:12849 autistic disorder ISO RGD:1605768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11953407 FAM47C family with sequence similarity 47 member C gene DOID:630 genetic disease ISO RGD:1605768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953407 FAM47C family with sequence similarity 47 member C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11953407 FAM47C family with sequence similarity 47 member C gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1605768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 11953416 RGS7 regulator of G protein signaling 7 gene DOID:1059 intellectual disability ISO RGD:733586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11953416 RGS7 regulator of G protein signaling 7 gene DOID:1540 parathyroid carcinoma ISO RGD:733586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11953416 RGS7 regulator of G protein signaling 7 gene DOID:630 genetic disease ISO RGD:733586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953416 RGS7 regulator of G protein signaling 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11953416 RGS7 regulator of G protein signaling 7 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:733586 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 11953416 RGS7 regulator of G protein signaling 7 gene DOID:9007090 Experimental Seizures ISO RGD:3570 D RGD:9068941 20200609 RGD PMID:12358788|REF_RGD_ID:13524540 11953416 RGS7 regulator of G protein signaling 7 gene DOID:9007096 Stroke ISO RGD:733586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 11953416 RGS7 regulator of G protein signaling 7 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11953438 BORA BORA aurora kinase A activator gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1605625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11953438 BORA BORA aurora kinase A activator gene DOID:630 genetic disease ISO RGD:1605625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953462 ITGAX integrin subunit alpha X gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1348968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16764927 11953462 ITGAX integrin subunit alpha X gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1348968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11953462 ITGAX integrin subunit alpha X gene DOID:630 genetic disease ISO RGD:1348968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953496 CAVIN3 caveolae associated protein 3 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1353748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11953496 CAVIN3 caveolae associated protein 3 gene DOID:630 genetic disease ISO RGD:1353748 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953502 SMAD3 SMAD family member 3 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:1343311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:17576681|PMID:21217753|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29392890|PMID:30661052|PMID:31085000|PMID:9536098 11953502 SMAD3 SMAD family member 3 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:1343311 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:21217753|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29392890|PMID:30661052|PMID:30787465|PMID:31085000 11953502 SMAD3 SMAD family member 3 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:1343311 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:21217753|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29392890|PMID:30661052|PMID:30787465|PMID:31085000|PMID:31915033 11953502 SMAD3 SMAD family member 3 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:1343311 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:16199547|PMID:17576681|PMID:21217753|PMID:21778426|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29392890|PMID:30661052|PMID:30787465|PMID:31085000|PMID:31915033|PMID:9536098 11953502 SMAD3 SMAD family member 3 gene DOID:0060071 pre-malignant neoplasm ISO RGD:3032 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver PMID:24680176|REF_RGD_ID:12903951 11953502 SMAD3 SMAD family member 3 gene DOID:0070237 Loeys-Dietz syndrome 3 ISO RGD:1343311 D RGD:7240710 20180130 OMIM 11953502 SMAD3 SMAD family member 3 gene DOID:0070237 Loeys-Dietz syndrome 3 ISO RGD:1343311 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C PMID:15350224|PMID:16828225|PMID:17725494|PMID:21217753|PMID:21778426|PMID:21815248|PMID:21835029|PMID:22167769|PMID:23554019|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25644172|PMID:25741868|PMID:25877775|PMID:25944730|PMID:27724990|PMID:28185953|PMID:28492532|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29717556|PMID:29907982|PMID:30661052|PMID:30739908|PMID:30787465|PMID:31085000|PMID:31915033|PMID:32154675|PMID:33125268 11953502 SMAD3 SMAD family member 3 gene DOID:0080334 aortic valve disease 2 ISO RGD:1343311 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic valve disease 2 PMID:28492532 11953502 SMAD3 SMAD family member 3 gene DOID:0080685 aortic dissection ISO RGD:1343311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ascending aortic dissection PMID:16199547|PMID:21778426|PMID:24804794|PMID:25741868|PMID:28492532 11953502 SMAD3 SMAD family member 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:1343311 D RGD:9068941 20200609 RGD protein:increased expression:tumor:significantly elevated in 53/67 (79%, p=0.0002) overall, in 23/35 with Gleason score 6-7(66%) and 30/32 with Gleason score 8-10 (94%, p=0.0062); by immunohistochemistry PMID:17908958|REF_RGD_ID:2300396 11953502 SMAD3 SMAD family member 3 gene DOID:127 leiomyoma ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228119 11953502 SMAD3 SMAD family member 3 gene DOID:1324 lung cancer ISO RGD:1343311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:21515830|PMID:24465804|PMID:26253951 11953502 SMAD3 SMAD family member 3 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1343311 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:15350224|PMID:21217753|PMID:22167769|PMID:23554019|PMID:24033266|PMID:25644172|PMID:25741868|PMID:25944730|PMID:28185953|PMID:28492532|PMID:29392890|PMID:29510914|PMID:29717556|PMID:30661052|PMID:30787465|PMID:32154675 11953502 SMAD3 SMAD family member 3 gene DOID:1380 endometrial cancer ISO RGD:1343311 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:12883738|REF_RGD_ID:2299970 11953502 SMAD3 SMAD family member 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1343311 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10092624|PMID:11224571|PMID:15350224|PMID:16199547|PMID:16828225|PMID:17576681|PMID:17725494|PMID:21217753|PMID:21778426|PMID:21815248|PMID:21835029|PMID:21949838|PMID:22167769|PMID:23139211|PMID:23554019|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25644172|PMID:25741868|PMID:25877775|PMID:25944730|PMID:26133393|PMID:26854089|PMID:27724990|PMID:28185953|PMID:28391405|PMID:28492532|PMID:29392890|PMID:29444731|PMID:29510914|PMID:29543232|PMID:29717556|PMID:29907982|PMID:30661052|PMID:30675029|PMID:30739908|PMID:30787465|PMID:31085000|PMID:31096651|PMID:31098894|PMID:31915033|PMID:32154675|PMID:33125268|PMID:9536098 11953502 SMAD3 SMAD family member 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1343311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10092624|PMID:11224571|PMID:15350224|PMID:16199547|PMID:16828225|PMID:17576681|PMID:17725494|PMID:21217753|PMID:21778426|PMID:21815248|PMID:21835029|PMID:21949838|PMID:22167769|PMID:23139211|PMID:23554019|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25644172|PMID:25741868|PMID:25877775|PMID:25944730|PMID:26133393|PMID:26333736|PMID:26854089|PMID:27724990|PMID:27986426|PMID:28185953|PMID:28391405|PMID:28492532|PMID:29392890|PMID:29444731|PMID:29510914|PMID:29543232|PMID:29717556|PMID:29907982|PMID:30661052|PMID:30675029|PMID:30739908|PMID:30787465|PMID:31085000|PMID:31096651|PMID:31098894|PMID:31915033|PMID:32154675|PMID:32597575|PMID:33125268|PMID:9536098 11953502 SMAD3 SMAD family member 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1343311 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10092624|PMID:11224571|PMID:15350224|PMID:16199547|PMID:16828225|PMID:17576681|PMID:17725494|PMID:21217753|PMID:21778426|PMID:21815248|PMID:21835029|PMID:21949838|PMID:22167769|PMID:23139211|PMID:23554019|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25640679|PMID:25644172|PMID:25741868|PMID:25877775|PMID:25944730|PMID:26133393|PMID:26333736|PMID:26854089|PMID:27724990|PMID:27986426|PMID:28185953|PMID:28391405|PMID:28492532|PMID:29392890|PMID:29444731|PMID:29510914|PMID:29543232|PMID:29717556|PMID:29907982|PMID:30661052|PMID:30675029|PMID:30739908|PMID:30787465|PMID:31085000|PMID:31096651|PMID:31098894|PMID:31915033|PMID:32154675|PMID:32597575|PMID:33125268|PMID:9536098 11953502 SMAD3 SMAD family member 3 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 11953502 SMAD3 SMAD family member 3 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1343311 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11953502 SMAD3 SMAD family member 3 gene DOID:1793 pancreatic cancer ISO RGD:1343311 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:18772397|REF_RGD_ID:5490966 11953502 SMAD3 SMAD family member 3 gene DOID:2717 Bloom syndrome ISO RGD:1343311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11953502 SMAD3 SMAD family member 3 gene DOID:3393 coronary artery disease ISO RGD:1343311 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Coronary artery disease PMID:25741868 11953502 SMAD3 SMAD family member 3 gene DOID:3627 aortic aneurysm ISO RGD:1343311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm PMID:25741868 11953502 SMAD3 SMAD family member 3 gene DOID:3744 cervical squamous cell carcinoma severity ISO RGD:1343311 D RGD:9068941 20200807 RGD PMID:28086903|REF_RGD_ID:38455996 11953502 SMAD3 SMAD family member 3 gene DOID:3883 Lynch syndrome ISO RGD:1343311 D RGD:9068941 20200609 RGD PMID:10819637|REF_RGD_ID:1599900 11953502 SMAD3 SMAD family member 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1343311 D RGD:9068941 20220818 RGD protein:increased expression:lung (human) PMID:25375657|REF_RGD_ID:11074609 11953502 SMAD3 SMAD family member 3 gene DOID:5082 liver cirrhosis ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21605584 11953502 SMAD3 SMAD family member 3 gene DOID:5199 ureteral obstruction ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 11953502 SMAD3 SMAD family member 3 gene DOID:520 aortic disease ISO RGD:1343311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:21778426|PMID:24804794|PMID:25741868|PMID:28492532|PMID:31098894 11953502 SMAD3 SMAD family member 3 gene DOID:630 genetic disease ISO RGD:1343311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11953502 SMAD3 SMAD family member 3 gene DOID:65 connective tissue disease ISO RGD:1343311 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:21217753|PMID:24804794|PMID:25644172|PMID:25741868|PMID:25877775|PMID:28492532|PMID:30661052|PMID:30739908|PMID:31085000 11953502 SMAD3 SMAD family member 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11953502 SMAD3 SMAD family member 3 gene DOID:8398 osteoarthritis ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21217753|PMID:22772368 11953502 SMAD3 SMAD family member 3 gene DOID:8398 osteoarthritis ISO RGD:735647 D RGD:9068941 20220825 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 11953502 SMAD3 SMAD family member 3 gene DOID:8778 Crohn's disease ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 11953502 SMAD3 SMAD family member 3 gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:1343311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 PMID:25741868 11953502 SMAD3 SMAD family member 3 gene DOID:9001528 ARTERIAL DISSECTION ISO RGD:1343311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arterial dissection PMID:25741868|PMID:28492532 11953502 SMAD3 SMAD family member 3 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3032 D RGD:9068941 20220331 RGD PMID:30346985|REF_RGD_ID:151665755 11953502 SMAD3 SMAD family member 3 gene DOID:9001665 Aneurysm ISO RGD:1343311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aneurysm PMID:25741868 11953502 SMAD3 SMAD family member 3 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:3032 D RGD:9068941 20200609 RGD mRNA:increased expression:hypoglossal nucleus PMID:17166487|REF_RGD_ID:1643227 11953502 SMAD3 SMAD family member 3 gene DOID:9004268 Uterine Neoplasms ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228119 11953502 SMAD3 SMAD family member 3 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27422367 11953502 SMAD3 SMAD family member 3 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 11953502 SMAD3 SMAD family member 3 gene DOID:9006045 Dissecting Aneurysm ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21217753 11953502 SMAD3 SMAD family member 3 gene DOID:9007174 Ventricular Remodeling ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16635409 11953502 SMAD3 SMAD family member 3 gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:735647 D RGD:9068941 20230406 RGD associated with myocardial infarction PMID:25726944|REF_RGD_ID:11252030 11953502 SMAD3 SMAD family member 3 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:3032 D RGD:9068941 20200609 RGD PMID:22913380|REF_RGD_ID:12903950 11953502 SMAD3 SMAD family member 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 11953502 SMAD3 SMAD family member 3 gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:1343311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AAT1 11953502 SMAD3 SMAD family member 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15183723|PMID:21217753 11953502 SMAD3 SMAD family member 3 gene DOID:9256 colorectal cancer ISO RGD:1343311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11953523 B3GAT2 beta-1,3-glucuronyltransferase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1348026 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11953523 B3GAT2 beta-1,3-glucuronyltransferase 2 gene DOID:5419 schizophrenia susceptibility ISO RGD:1348026 D RGD:9068941 20200609 RGD DNA:SNP: :rs2460691, rrs1094527(human) PMID:20950796|REF_RGD_ID:14390078 11953523 B3GAT2 beta-1,3-glucuronyltransferase 2 gene DOID:630 genetic disease ISO RGD:1348026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953523 B3GAT2 beta-1,3-glucuronyltransferase 2 gene DOID:9003505 Venous Thromboembolism ISO RGD:1348026 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1304029,rs2748331(human) PMID:28011674|REF_RGD_ID:14390077 11953523 B3GAT2 beta-1,3-glucuronyltransferase 2 gene DOID:9206 Barrett's esophagus ISO RGD:1348026 D RGD:9068941 20200609 RGD DNA:hypermethylation:esophageal squamous epithelium PMID:26545406|REF_RGD_ID:11552890 11953531 LONRF3 LON peptidase N-terminal domain and ring finger 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11953531 LONRF3 LON peptidase N-terminal domain and ring finger 3 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1351493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 11953531 LONRF3 LON peptidase N-terminal domain and ring finger 3 gene DOID:12849 autistic disorder ISO RGD:1351493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11953531 LONRF3 LON peptidase N-terminal domain and ring finger 3 gene DOID:630 genetic disease ISO RGD:1351493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953550 AOAH acyloxyacyl hydrolase gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:1352932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 PMID:28492532 11953550 AOAH acyloxyacyl hydrolase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11953550 AOAH acyloxyacyl hydrolase gene DOID:630 genetic disease ISO RGD:1352932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953550 AOAH acyloxyacyl hydrolase gene DOID:670 amphetamine abuse ISO RGD:1352932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11953583 WFDC11 WAP four-disulfide core domain 11 gene DOID:2234 focal epilepsy ISO RGD:1351256 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11953583 WFDC11 WAP four-disulfide core domain 11 gene DOID:630 genetic disease ISO RGD:1351256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953583 WFDC11 WAP four-disulfide core domain 11 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1351256 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11953595 SDR9C7 short chain dehydrogenase/reductase family 9C member 7 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:732810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital ichthyosis of skin PMID:25741868|PMID:28369735|PMID:28492532|PMID:28906551|PMID:31671075|PMID:33422619 11953595 SDR9C7 short chain dehydrogenase/reductase family 9C member 7 gene DOID:0080257 autosomal recessive congenital ichthyosis 13 ISO RGD:732810 D RGD:7240710 20190315 OMIM 11953595 SDR9C7 short chain dehydrogenase/reductase family 9C member 7 gene DOID:0080257 autosomal recessive congenital ichthyosis 13 ISO RGD:732810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 13 PMID:25741868|PMID:28173123|PMID:28369735|PMID:28492532|PMID:28906551|PMID:31671075|PMID:33422619 11953595 SDR9C7 short chain dehydrogenase/reductase family 9C member 7 gene DOID:630 genetic disease ISO RGD:732810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11953603 TXNDC12 thioredoxin domain containing 12 gene DOID:630 genetic disease ISO RGD:1606291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953653 ZNF225 zinc finger protein 225 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1346174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 11953653 ZNF225 zinc finger protein 225 gene DOID:5419 schizophrenia ISO RGD:1346174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11953653 ZNF225 zinc finger protein 225 gene DOID:630 genetic disease ISO RGD:1346174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953676 PLA1A phospholipase A1 member A gene DOID:630 genetic disease ISO RGD:1343434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953694 GIMAP7 GTPase, IMAP family member 7 gene DOID:0080600 COVID-19 ISO RGD:1343694 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 11953694 GIMAP7 GTPase, IMAP family member 7 gene DOID:2843 long QT syndrome ISO RGD:1343694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 11953694 GIMAP7 GTPase, IMAP family member 7 gene DOID:630 genetic disease ISO RGD:1343694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953700 UBE3D ubiquitin protein ligase E3D gene DOID:0111953 immunodeficiency 23 ISO RGD:1315581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 23 PMID:24931394 11953700 UBE3D ubiquitin protein ligase E3D gene DOID:630 genetic disease ISO RGD:1315581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953723 LOC100973017 PIGY upstream open reading frame gene DOID:630 genetic disease ISO RGD:6893022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953723 LOC100973017 PIGY upstream open reading frame gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:6893022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 11953723 LOC100973017 PIGY upstream open reading frame gene DOID:9001811 Hyperphosphatasia with Impaired Intellectual Development Syndrome 6 ISO RGD:6893022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 12 PMID:25741868|PMID:26293662|PMID:28492532 11953728 KIAA0513 KIAA0513 ortholog gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1351889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 11953728 KIAA0513 KIAA0513 ortholog gene DOID:5419 schizophrenia ISO RGD:1351889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11953728 KIAA0513 KIAA0513 ortholog gene DOID:630 genetic disease ISO RGD:1351889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953759 MMD monocyte to macrophage differentiation associated gene DOID:630 genetic disease ISO RGD:1346726 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953759 MMD monocyte to macrophage differentiation associated gene DOID:9074 systemic lupus erythematosus ISO RGD:1346726 D RGD:9068941 20221027 RGD associated with Pregnancy Complications;mRNA:increased expression:blood (human) PMID:31684818|REF_RGD_ID:155630630 11953782 TLX1 T cell leukemia homeobox 1 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1351719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1717256 11953782 TLX1 T cell leukemia homeobox 1 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1351719 D RGD:9068941 20200609 RGD PMID:1683261|REF_RGD_ID:1599439 11953782 TLX1 T cell leukemia homeobox 1 gene DOID:0090020 split hand-foot malformation ISO RGD:1351719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation PMID:21681106 11953782 TLX1 T cell leukemia homeobox 1 gene DOID:2529 splenic disease ISO RGD:1351719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7908720 11953782 TLX1 T cell leukemia homeobox 1 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1351719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20972433 11953782 TLX1 T cell leukemia homeobox 1 gene DOID:630 genetic disease ISO RGD:1351719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953782 TLX1 T cell leukemia homeobox 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1351719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20972433 11953782 TLX1 T cell leukemia homeobox 1 gene DOID:9008692 Aneuploidy ISO RGD:1351719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20972433 11953794 CCSER2 coiled-coil serine rich protein 2 gene DOID:630 genetic disease ISO RGD:1312172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953835 FKBP10 FKBP prolyl isomerase 10 gene DOID:0060231 Bruck syndrome ISO RGD:1319279 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Bruck syndrome PMID:25741868 11953835 FKBP10 FKBP prolyl isomerase 10 gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:1319279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type III PMID:25741868 11953835 FKBP10 FKBP prolyl isomerase 10 gene DOID:0110348 osteogenesis imperfecta type 12 ISO RGD:1319279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 12 PMID:20362275|PMID:20839288|PMID:21567934|PMID:22107750|PMID:22689593|PMID:22949511|PMID:25741868|PMID:26538303|PMID:27509835|PMID:27717089|PMID:27762305|PMID:28492532 11953835 FKBP10 FKBP prolyl isomerase 10 gene DOID:0110351 osteogenesis imperfecta type 11 ISO RGD:1319279 D RGD:7240710 20180130 OMIM 11953835 FKBP10 FKBP prolyl isomerase 10 gene DOID:0110351 osteogenesis imperfecta type 11 ISO RGD:1319279 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 11 PMID:20362275|PMID:20839288|PMID:21567934|PMID:22689593|PMID:22949511|PMID:25741868|PMID:26538303|PMID:27362741|PMID:27509835|PMID:27717089|PMID:27762305|PMID:28492532|PMID:30715774|PMID:9129737 11953835 FKBP10 FKBP prolyl isomerase 10 gene DOID:12347 osteogenesis imperfecta ISO RGD:1319279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:17576681|PMID:20839288|PMID:22949511|PMID:25741868|PMID:26538303|PMID:28492532|PMID:30715774|PMID:9481655|PMID:9536098|PMID:9927692 11953835 FKBP10 FKBP prolyl isomerase 10 gene DOID:630 genetic disease ISO RGD:1319279 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11953835 FKBP10 FKBP prolyl isomerase 10 gene DOID:9002589 Bone Fractures ISO RGD:1319279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent fractures PMID:20362275|PMID:20839288|PMID:21567934|PMID:22689593|PMID:22949511|PMID:25741868|PMID:26538303|PMID:27509835|PMID:27717089|PMID:27762305|PMID:28492532 11953835 FKBP10 FKBP prolyl isomerase 10 gene DOID:9003358 Kyphosis ISO RGD:1319279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kyphosis PMID:20362275|PMID:20839288|PMID:21567934|PMID:22689593|PMID:22949511|PMID:25741868|PMID:26538303|PMID:27509835|PMID:27717089|PMID:27762305|PMID:28492532 11953835 FKBP10 FKBP prolyl isomerase 10 gene DOID:9007227 Bruck Syndrome 1 ISO RGD:1319279 D RGD:7240710 20180130 OMIM 11953835 FKBP10 FKBP prolyl isomerase 10 gene DOID:9007227 Bruck Syndrome 1 ISO RGD:1319279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bruck syndrome 1 PMID:20362275|PMID:20696291|PMID:20839288|PMID:21567934|PMID:22689593|PMID:22949511|PMID:23712425|PMID:25741868|PMID:26538303|PMID:27509835|PMID:27717089|PMID:27762305|PMID:28492532|PMID:30715774|PMID:9129737|PMID:9481655|PMID:9927692 11953835 FKBP10 FKBP prolyl isomerase 10 gene DOID:9007661 Dwarfism ISO RGD:1319279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:20362275|PMID:20839288|PMID:21567934|PMID:22689593|PMID:22949511|PMID:25741868|PMID:26538303|PMID:27509835|PMID:27717089|PMID:27762305|PMID:28492532 11953849 WDFY4 WDFY family member 4 gene DOID:11372 megacolon ISO RGD:1350991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11953849 WDFY4 WDFY family member 4 gene DOID:12849 autistic disorder ISO RGD:1350991 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30559488 11953849 WDFY4 WDFY family member 4 gene DOID:5419 schizophrenia ISO RGD:1350991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11953849 WDFY4 WDFY family member 4 gene DOID:630 genetic disease ISO RGD:1350991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953849 WDFY4 WDFY family member 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1350991 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30559488 11953850 FAM222A family with sequence similarity 222 member A gene DOID:630 genetic disease ISO RGD:1605921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953860 CPS1 carbamoyl-phosphate synthase 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:70833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11953860 CPS1 carbamoyl-phosphate synthase 1 gene DOID:1059 intellectual disability ISO RGD:70833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11953860 CPS1 carbamoyl-phosphate synthase 1 gene DOID:10763 hypertension ISO RGD:2395 D RGD:9068941 20200609 RGD protein:decreased expression:liver, mitochondrion PMID:19135993|REF_RGD_ID:2303405 11953860 CPS1 carbamoyl-phosphate synthase 1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:70833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11407344 11953860 CPS1 carbamoyl-phosphate synthase 1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:70833 D RGD:9068941 20200609 RGD CACD, OMIM:265380, DNA:polymorphism:T1405N PMID:11407344|REF_RGD_ID:1600716 11953860 CPS1 carbamoyl-phosphate synthase 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:70833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11953860 CPS1 carbamoyl-phosphate synthase 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:70833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11953860 CPS1 carbamoyl-phosphate synthase 1 gene DOID:178 vascular disease ISO RGD:70833 D RGD:9068941 20200609 RGD venoocclusive disease, DNA:polymorphism:T1405N PMID:14718356|REF_RGD_ID:1600717 11953860 CPS1 carbamoyl-phosphate synthase 1 gene DOID:630 genetic disease ISO RGD:70833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17310273|PMID:17576681|PMID:20855223|PMID:21120950|PMID:22575620|PMID:24813853|PMID:25741868|PMID:28492532|PMID:32718099|PMID:33489762|PMID:9536098 11953860 CPS1 carbamoyl-phosphate synthase 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:70833 D RGD:9068941 20220616 RGD associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 11953860 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9000722 Animal Hepatitis ISO RGD:2395 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:8821709|REF_RGD_ID:2303519 11953860 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2395 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:17539997|REF_RGD_ID:2303515 11953860 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15650968 11953860 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9001586 Experimental Liver Neoplasms severity ISO RGD:2395 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:3387993|REF_RGD_ID:2303406 11953860 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2395 D RGD:9068941 20200609 RGD PMID:3973436|REF_RGD_ID:2303532 11953860 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9002802 Acidoses ISO RGD:2395 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:9472964|REF_RGD_ID:4144071 11953860 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9002957 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO treatment ISO RGD:10389 D RGD:9068941 20200609 RGD PMID:29801986|REF_RGD_ID:13628400 11953860 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9003515 Neonatal Pulmonary Hypertension ISO RGD:70833 D RGD:7240710 20230505 OMIM 11953860 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9003515 Neonatal Pulmonary Hypertension ISO RGD:70833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, neonatal, susceptibility to PMID:11407344|PMID:14718356|PMID:15465784|PMID:16708072|PMID:20154341|PMID:21767969 11953860 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:70833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11953860 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2395 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:2882780|REF_RGD_ID:4144110 11953860 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9005930 Endotoxemia ISO RGD:70833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16741687 11953860 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9006462 Coma ISO RGD:70833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8438805 11953860 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:70833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11953860 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9007874 Liver Failure ISO RGD:2395 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:8836904|REF_RGD_ID:4140432 11953860 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9007874 Liver Failure ISO RGD:2395 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:11779202|REF_RGD_ID:70249 11953860 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9008972 Hyperammonemia ISO RGD:70833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17310273|PMID:8486760 11953860 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9280 carbamoyl phosphate synthetase I deficiency disease ISO RGD:70833 D RGD:7240710 20180130 OMIM 11953860 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9280 carbamoyl phosphate synthetase I deficiency disease ISO RGD:70833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital hyperammonemia, type I PMID:11388595|PMID:11474210|PMID:11536261|PMID:12655559|PMID:12955727|PMID:15050969|PMID:15164414|PMID:15617192|PMID:15876373|PMID:16199547|PMID:16737834|PMID:17310273|PMID:17357079|PMID:17576681|PMID:18414213|PMID:18666241|PMID:19167850|PMID:19309799|PMID:19793055|PMID:20578160|PMID:20800523|PMID:20855223|PMID:21068339|PMID:21108709|PMID:21120950|PMID:22173106|PMID:22494545|PMID:22575620|PMID:23649895|PMID:24813853|PMID:24880889|PMID:25640679|PMID:25741868|PMID:26059772|PMID:26440671|PMID:27150549|PMID:27290639|PMID:27436290|PMID:28007335|PMID:28444906|PMID:28492532|PMID:28526534|PMID:28658158|PMID:29888426|PMID:30285816|PMID:31392117|PMID:31435610|PMID:31507628|PMID:31749211|PMID:32154057|PMID:32280145|PMID:32670798|PMID:32718099|PMID:32934962|PMID:33190319|PMID:33309754|PMID:33489762|PMID:33551825|PMID:33611823|PMID:33851512|PMID:33924653|PMID:34298581|PMID:8486760|PMID:9536098|PMID:9686343|PMID:9711878 11953860 CPS1 carbamoyl-phosphate synthase 1 gene DOID:936 brain disease ISO RGD:70833 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 11953860 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9452 fatty liver disease ISO RGD:2395 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:20347174|REF_RGD_ID:4144089 11953860 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9970 obesity ISO RGD:2395 D RGD:9068941 20200609 RGD PMID:15481768|REF_RGD_ID:2303517 11953917 ZNF317 zinc finger protein 317 gene DOID:12849 autistic disorder ISO RGD:1345905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11953917 ZNF317 zinc finger protein 317 gene DOID:630 genetic disease ISO RGD:1345905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953936 RPL36AL ribosomal protein L36a like gene DOID:630 genetic disease ISO RGD:733562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953936 RPL36AL ribosomal protein L36a like gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:733562 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11953936 RPL36AL ribosomal protein L36a like gene DOID:9562 primary ciliary dyskinesia ISO RGD:733562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11953942 ZNF443 zinc finger protein 443 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1345334 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11953942 ZNF443 zinc finger protein 443 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1345334 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11953942 ZNF443 zinc finger protein 443 gene DOID:0111254 glutaric acidemia I ISO RGD:1345334 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11953942 ZNF443 zinc finger protein 443 gene DOID:3413 alpha-mannosidosis ISO RGD:1345334 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11953942 ZNF443 zinc finger protein 443 gene DOID:630 genetic disease ISO RGD:1345334 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953953 SCNM1 sodium channel modifier 1 gene DOID:630 genetic disease ISO RGD:1319050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953953 SCNM1 sodium channel modifier 1 gene DOID:9000935 Orofaciodigital Syndrome XIX ISO RGD:1319050 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XIX PMID:36084634 11953968 RBM15 RNA binding motif protein 15 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1343999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 11953968 RBM15 RNA binding motif protein 15 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1343999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11953968 RBM15 RNA binding motif protein 15 gene DOID:12849 autistic disorder ISO RGD:1343999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11953968 RBM15 RNA binding motif protein 15 gene DOID:630 genetic disease ISO RGD:1343999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953968 RBM15 RNA binding motif protein 15 gene DOID:769 neuroblastoma ISO RGD:1343999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26822237 11953988 BMAL1 basic helix-loop-helix ARNT like 1 gene DOID:1059 intellectual disability ISO RGD:732520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11953988 BMAL1 basic helix-loop-helix ARNT like 1 gene DOID:13580 cholestasis ISO RGD:62003 D RGD:9068941 20200609 RGD mRNA:increased expression:cholangiocyte PMID:21757639|REF_RGD_ID:10043349 11953988 BMAL1 basic helix-loop-helix ARNT like 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:732520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11953988 BMAL1 basic helix-loop-helix ARNT like 1 gene DOID:630 genetic disease ISO RGD:732520 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11953988 BMAL1 basic helix-loop-helix ARNT like 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:732520 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16999817 11953988 BMAL1 basic helix-loop-helix ARNT like 1 gene DOID:9002644 Premature Aging ISO RGD:62295 D RGD:9068941 20200609 RGD PMID:16847346|REF_RGD_ID:10043345 11953988 BMAL1 basic helix-loop-helix ARNT like 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:62003 D RGD:9068941 20200609 RGD protein:increased expression:pineal gland PMID:23336172|REF_RGD_ID:10043348 11953988 BMAL1 basic helix-loop-helix ARNT like 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:62003 D RGD:9068941 20200609 RGD PMID:18624957|REF_RGD_ID:2301030 11953988 BMAL1 basic helix-loop-helix ARNT like 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:732520 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11953988 BMAL1 basic helix-loop-helix ARNT like 1 gene DOID:9007456 Female Infertility ISO RGD:732520 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:20200203 11953988 BMAL1 basic helix-loop-helix ARNT like 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:732520 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:24652800 11953988 BMAL1 basic helix-loop-helix ARNT like 1 gene DOID:9278 hyperargininemia ISO RGD:732520 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:27056296 11953988 BMAL1 basic helix-loop-helix ARNT like 1 gene DOID:9351 diabetes mellitus ISO RGD:62295 D RGD:9068941 20220825 MouseDO 11954033 FKBP1A FKBP prolyl isomerase 1A gene DOID:0050476 Barth syndrome ISO RGD:737540 D RGD:9068941 20220825 MouseDO OMIM:302060 11954033 FKBP1A FKBP prolyl isomerase 1A gene DOID:0080855 Parkinsonism ISO RGD:2617 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:17877381|REF_RGD_ID:2302074 11954033 FKBP1A FKBP prolyl isomerase 1A gene DOID:1682 congenital heart disease ISO RGD:737540 D RGD:9068941 20200609 RGD PMID:9461216|REF_RGD_ID:1580388 11954033 FKBP1A FKBP prolyl isomerase 1A gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737539 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 11954033 FKBP1A FKBP prolyl isomerase 1A gene DOID:630 genetic disease ISO RGD:737539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11954033 FKBP1A FKBP prolyl isomerase 1A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737539 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11954039 LOC100973583 HLA class II histocompatibility antigen, DQ alpha 2 chain gene DOID:0050553 JMP syndrome ISO RGD:1350485 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11954039 LOC100973583 HLA class II histocompatibility antigen, DQ alpha 2 chain gene DOID:0080600 COVID-19 ISO RGD:1350485 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11954039 LOC100973583 HLA class II histocompatibility antigen, DQ alpha 2 chain gene DOID:2841 asthma susceptibility ISO RGD:1350485 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs3916765(human) PMID:20159242|REF_RGD_ID:13506913 11954039 LOC100973583 HLA class II histocompatibility antigen, DQ alpha 2 chain gene DOID:7148 rheumatoid arthritis ISO RGD:1350485 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 11954048 UGT2A1 UDP glucuronosyltransferase family 2 member A1 complex locus gene DOID:0060041 autism spectrum disorder ISO RGD:69489 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11954048 UGT2A1 UDP glucuronosyltransferase family 2 member A1 complex locus gene DOID:630 genetic disease ISO RGD:69489 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11954048 UGT2A1 UDP glucuronosyltransferase family 2 member A1 complex locus gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:69489 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11954070 DEUP1 deuterosome assembly protein 1 gene DOID:0080322 polycystic kidney disease ISO RGD:1606948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 11954070 DEUP1 deuterosome assembly protein 1 gene DOID:1059 intellectual disability ISO RGD:1606948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11954070 DEUP1 deuterosome assembly protein 1 gene DOID:3068 glioblastoma ISO RGD:1606948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11954070 DEUP1 deuterosome assembly protein 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1606948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11954070 DEUP1 deuterosome assembly protein 1 gene DOID:630 genetic disease ISO RGD:1606948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11954094 EHBP1 EH domain binding protein 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1346487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11954094 EHBP1 EH domain binding protein 1 gene DOID:2661 myoepithelioma ISO RGD:1346487 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11954094 EHBP1 EH domain binding protein 1 gene DOID:630 genetic disease ISO RGD:1346487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11954094 EHBP1 EH domain binding protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23593118 11954094 EHBP1 EH domain binding protein 1 gene DOID:9007256 Prostate Cancer, Hereditary, 12 ISO RGD:1346487 D RGD:7240710 20180130 OMIM 11954094 EHBP1 EH domain binding protein 1 gene DOID:9007256 Prostate Cancer, Hereditary, 12 ISO RGD:1346487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 12 PMID:18264098 11954139 CIMAP1B ciliary microtubule associated protein 1B gene DOID:0060041 autism spectrum disorder ISO RGD:1606628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 11954139 CIMAP1B ciliary microtubule associated protein 1B gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1606628 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 11954139 CIMAP1B ciliary microtubule associated protein 1B gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1606628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11954139 CIMAP1B ciliary microtubule associated protein 1B gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1606628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 11954139 CIMAP1B ciliary microtubule associated protein 1B gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1606628 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 11954139 CIMAP1B ciliary microtubule associated protein 1B gene DOID:10581 metachromatic leukodystrophy ISO RGD:1606628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 11954139 CIMAP1B ciliary microtubule associated protein 1B gene DOID:1059 intellectual disability ISO RGD:1606628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11954139 CIMAP1B ciliary microtubule associated protein 1B gene DOID:11612 polycystic ovary syndrome ISO RGD:1606628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11954139 CIMAP1B ciliary microtubule associated protein 1B gene DOID:630 genetic disease ISO RGD:1606628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11954152 PPP3CC protein phosphatase 3 catalytic subunit gamma gene DOID:10126 keratoconus ISO RGD:1347828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 11954152 PPP3CC protein phosphatase 3 catalytic subunit gamma gene DOID:11054 urinary bladder cancer ISO RGD:1347828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29275364 11954152 PPP3CC protein phosphatase 3 catalytic subunit gamma gene DOID:5419 schizophrenia ISO RGD:1347828 D RGD:9068941 20200609 RGD DNA:snps, haplotype:multiple (human) PMID:12851458|REF_RGD_ID:1358563 11954152 PPP3CC protein phosphatase 3 catalytic subunit gamma gene DOID:5419 schizophrenia ISO RGD:1347828 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:15820226|REF_RGD_ID:13515121 11954152 PPP3CC protein phosphatase 3 catalytic subunit gamma gene DOID:630 genetic disease ISO RGD:1347828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11954152 PPP3CC protein phosphatase 3 catalytic subunit gamma gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1347828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29275364 11954152 PPP3CC protein phosphatase 3 catalytic subunit gamma gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1347828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 11954184 SLC13A3 solute carrier family 13 member 3 gene DOID:10283 prostate cancer ISO RGD:69657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:25741868|PMID:28492532 11954184 SLC13A3 solute carrier family 13 member 3 gene DOID:2234 focal epilepsy ISO RGD:69657 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11954184 SLC13A3 solute carrier family 13 member 3 gene DOID:630 genetic disease ISO RGD:69657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11954184 SLC13A3 solute carrier family 13 member 3 gene DOID:9000912 Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate ISO RGD:69657 D RGD:7240710 20200415 OMIM 11954184 SLC13A3 solute carrier family 13 member 3 gene DOID:9000912 Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate ISO RGD:69657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate PMID:17576681|PMID:23265383|PMID:25741868|PMID:28492532|PMID:30635937|PMID:9536098 11954205 NDUFB1 NADH:ubiquinone oxidoreductase subunit B1 gene DOID:0080054 achondrogenesis type IA ISO RGD:1350721 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11954205 NDUFB1 NADH:ubiquinone oxidoreductase subunit B1 gene DOID:630 genetic disease ISO RGD:1350721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11954212 MTIF2 mitochondrial translational initiation factor 2 gene DOID:630 genetic disease ISO RGD:1347555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11954226 LOC100978689 olfactory receptor 13A1 gene DOID:630 genetic disease ISO RGD:1603609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11954234 CCDC186 coiled-coil domain containing 186 gene DOID:630 genetic disease ISO RGD:1316183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11954234 CCDC186 coiled-coil domain containing 186 gene DOID:6420 pulmonary valve stenosis ISO RGD:1316183 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:33259146 11954271 DHX8 DEAH-box helicase 8 gene DOID:0080205 CAKUT ISO RGD:1321795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:30143558 11954271 DHX8 DEAH-box helicase 8 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:19894111|PMID:23996866|PMID:24686251|PMID:28492532 11954271 DHX8 DEAH-box helicase 8 gene DOID:630 genetic disease ISO RGD:1321795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11954304 MPHOSPH9 M-phase phosphoprotein 9 gene DOID:0111487 combined oxidative phosphorylation deficiency 7 ISO RGD:1313543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 11954304 MPHOSPH9 M-phase phosphoprotein 9 gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1313543 D RGD:9068941 20200609 RGD DNA:snp:intron:122222678G>T rs1790100 (human) PMID:19879194|REF_RGD_ID:2316985 11954304 MPHOSPH9 M-phase phosphoprotein 9 gene DOID:630 genetic disease ISO RGD:1313543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11954356 ZKSCAN3 zinc finger with KRAB and SCAN domains 3 gene DOID:11372 megacolon ISO RGD:1313974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11954356 ZKSCAN3 zinc finger with KRAB and SCAN domains 3 gene DOID:630 genetic disease ISO RGD:1313974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11954356 ZKSCAN3 zinc finger with KRAB and SCAN domains 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519692 11954374 MIX23 mitochondrial matrix import factor 23 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1604240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 11954374 MIX23 mitochondrial matrix import factor 23 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1604240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 11954374 MIX23 mitochondrial matrix import factor 23 gene DOID:9270 alkaptonuria ISO RGD:1604240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11954395 LHFPL5 LHFPL tetraspan subfamily member 5 gene DOID:0050553 JMP syndrome ISO RGD:1347478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11954395 LHFPL5 LHFPL tetraspan subfamily member 5 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1347478 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:16459341|PMID:25741868|PMID:30177809|PMID:30298622|PMID:30303587 11954395 LHFPL5 LHFPL tetraspan subfamily member 5 gene DOID:0060308 autosomal recessive intellectual developmental disorder ISO RGD:1347478 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mental retardation, autosomal recessive PMID:27148795 11954395 LHFPL5 LHFPL tetraspan subfamily member 5 gene DOID:0110518 autosomal recessive nonsyndromic deafness 67 ISO RGD:1347478 D RGD:7240710 20180130 OMIM 11954395 LHFPL5 LHFPL tetraspan subfamily member 5 gene DOID:0110518 autosomal recessive nonsyndromic deafness 67 ISO RGD:1347478 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 67 PMID:16459341|PMID:16752389|PMID:24033266|PMID:25741868|PMID:27148795|PMID:28492532|PMID:30177809|PMID:30298622|PMID:30303587|PMID:32747562 11954395 LHFPL5 LHFPL tetraspan subfamily member 5 gene DOID:1059 intellectual disability ISO RGD:1347478 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability PMID:27148795 11954395 LHFPL5 LHFPL tetraspan subfamily member 5 gene DOID:630 genetic disease ISO RGD:1347478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11954395 LHFPL5 LHFPL tetraspan subfamily member 5 gene DOID:9004538 Hearing Loss ISO RGD:1347478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:28492532|PMID:30311386 11954403 COL4A5 collagen type IV alpha 5 chain gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1351504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 11954403 COL4A5 collagen type IV alpha 5 chain gene DOID:0050563 nonsyndromic deafness ISO RGD:1351504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:28492532|PMID:30311386 11954403 COL4A5 collagen type IV alpha 5 chain gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11954403 COL4A5 collagen type IV alpha 5 chain gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1351504 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:11462238|PMID:11572889|PMID:12028435|PMID:14514738|PMID:17396119|PMID:19344236|PMID:19965530|PMID:23144074|PMID:23720012|PMID:24033266|PMID:24046192|PMID:25741868|PMID:26467025|PMID:27627812|PMID:28492532|PMID:30577881|PMID:30773290|PMID:7599631|PMID:7695699|PMID:8218237|PMID:8651296|PMID:8940267|PMID:9848783 11954403 COL4A5 collagen type IV alpha 5 chain gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1351504 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome PMID:25741868 11954403 COL4A5 collagen type IV alpha 5 chain gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1351504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:32581362 11954403 COL4A5 collagen type IV alpha 5 chain gene DOID:0110032 autosomal dominant Alport syndrome ISO RGD:1351504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant Alport syndrome PMID:10752524|PMID:12028435|PMID:14514738|PMID:16199547|PMID:19344236|PMID:19965530|PMID:23144074|PMID:23720012|PMID:24046192|PMID:24854265|PMID:25741868|PMID:26809805|PMID:27627812|PMID:28492532|PMID:30577881|PMID:30773290|PMID:7599631|PMID:7695699|PMID:8218237|PMID:8651296|PMID:8940267|PMID:9195222|PMID:9848783 11954403 COL4A5 collagen type IV alpha 5 chain gene DOID:0110034 X-linked Alport syndrome ISO RGD:1351504 D RGD:7240710 20180130 OMIM 11954403 COL4A5 collagen type IV alpha 5 chain gene DOID:0110034 X-linked Alport syndrome ISO RGD:1351504 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: X-linked Alport syndrome PMID:10094548|PMID:10561141|PMID:10684360|PMID:10752524|PMID:11223851|PMID:11462238|PMID:11572889|PMID:12028435|PMID:12105244|PMID:12796257|PMID:1330889|PMID:1352287|PMID:13582260|PMID:1363780|PMID:1376965|PMID:14514738|PMID:14604828|PMID:14856448|PMID:14993485|PMID:15044104|PMID:1577459|PMID:15780079|PMID:15954103|PMID:15957001|PMID:1598909|PMID:16199547|PMID:1672282|PMID:16941480|PMID:17277342|PMID:17396119|PMID:17576681|PMID:17660027|PMID:1783380|PMID:18083113|PMID:18343956|PMID:19019929|PMID:19281745|PMID:19344236|PMID:19728970|PMID:19919694|PMID:19965530|PMID:20130921|PMID:20301386|PMID:20378821|PMID:20881942|PMID:20884774|PMID:21332469|PMID:21505094|PMID:21688191|PMID:21848006|PMID:22921432|PMID:22995991|PMID:23144074|PMID:2349482|PMID:23572034|PMID:23720012|PMID:23967202|PMID:24033266|PMID:24033287|PMID:24046192|PMID:24077912|PMID:24088041|PMID:24130771|PMID:24304881|PMID:24470729|PMID:24472419|PMID:24522658|PMID:24759409|PMID:24854265|PMID:25183659|PMID:25525159|PMID:25575550|PMID:25739341|PMID:25741868|PMID:25741911|PMID:25788563|PMID:25876686|PMID:26467025|PMID:26613025|PMID:26633545|PMID:26809805|PMID:26934356|PMID:27281700|PMID:27353043|PMID:27627812|PMID:27725732|PMID:27989324|PMID:28492532|PMID:28542346|PMID:28780565|PMID:28827396|PMID:28844315|PMID:29095814|PMID:29098738|PMID:29127259|PMID:29142990|PMID:29144512|PMID:29198386|PMID:29204651|PMID:29270492|PMID:29526710|PMID:29801666|PMID:29854973|PMID:29959198|PMID:30128941|PMID:30295827|PMID:30311386|PMID:30477285|PMID:30577881|PMID:30586318|PMID:30647093|PMID:30655312|PMID:30691124|PMID:30773290|PMID:30919572|PMID:31027891|PMID:31096494|PMID:31138263|PMID:31144478|PMID:31576025|PMID:31850286|PMID:32405592|PMID:32659759|PMID:32939031|PMID:33040356|PMID:33309955|PMID:33532864|PMID:33633790|PMID:34008892|PMID:34215756|PMID:34400539|PMID:35802133|PMID:36633841|PMID:6650503|PMID:7485125|PMID:7599631|PMID:7695699|PMID:7969679|PMID:8218237|PMID:8406498|PMID:8433568|PMID:8455372|PMID:8648925|PMID:8651292|PMID:8651296|PMID:8738805|PMID:8807602|PMID:8825605|PMID:8887300|PMID:8940267|PMID:9150741|PMID:9195222|PMID:9536098|PMID:9848783 11954403 COL4A5 collagen type IV alpha 5 chain gene DOID:0111365 benign familial hematuria ISO RGD:1351504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria PMID:25741868 11954403 COL4A5 collagen type IV alpha 5 chain gene DOID:10763 hypertension ISO RGD:1351504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertension PMID:11223851|PMID:12028435|PMID:17396119|PMID:19728970|PMID:19965530|PMID:20378821|PMID:21332469|PMID:21688191|PMID:24077912|PMID:24470729|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:28492532|PMID:28844315|PMID:29142990|PMID:29526710|PMID:29854973|PMID:30691124|PMID:31850286|PMID:33309955|PMID:34008892|PMID:9848783 11954403 COL4A5 collagen type IV alpha 5 chain gene DOID:10952 nephritis ISO RGD:1351504 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Nephritis PMID:25741868 11954403 COL4A5 collagen type IV alpha 5 chain gene DOID:10983 Alport syndrome ISO RGD:1351504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria | ClinVar Annotator: match by term: Disease of glomerular basement membrane PMID:10563487|PMID:10752524|PMID:11223851|PMID:12028435|PMID:14514738|PMID:15044104|PMID:15780079|PMID:15954103|PMID:17396119|PMID:18083113|PMID:19344236|PMID:19728970|PMID:19919694|PMID:19965530|PMID:20301386|PMID:20378821|PMID:21332469|PMID:21688191|PMID:23144074|PMID:2349482|PMID:23572034|PMID:23720012|PMID:24046192|PMID:24077912|PMID:24130771|PMID:24304881|PMID:24470729|PMID:24854265|PMID:25525159|PMID:25572247|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:27627812|PMID:28492532|PMID:28542346|PMID:28844315|PMID:29127259|PMID:29142990|PMID:29526710|PMID:29854973|PMID:30577881|PMID:30655312|PMID:30691124|PMID:30773290|PMID:30968591|PMID:31850286|PMID:31922066|PMID:32405592|PMID:33309955|PMID:33532864|PMID:34008892|PMID:7599631|PMID:7695699|PMID:8218237|PMID:8455372|PMID:8648925|PMID:8651292|PMID:8651296|PMID:8940267|PMID:9195222|PMID:9848783 11954403 COL4A5 collagen type IV alpha 5 chain gene DOID:1184 nephrotic syndrome ISO RGD:1351504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:15044104|PMID:19344236|PMID:20378821|PMID:23720012|PMID:24130771|PMID:25741868|PMID:27627812|PMID:28492532|PMID:28542346|PMID:29127259|PMID:32405592|PMID:7599631|PMID:7695699|PMID:8218237|PMID:9848783 11954403 COL4A5 collagen type IV alpha 5 chain gene DOID:12849 autistic disorder ISO RGD:1351504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11954403 COL4A5 collagen type IV alpha 5 chain gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1351504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:10561141|PMID:10752524|PMID:14514738|PMID:14993485|PMID:15780079|PMID:21505094|PMID:24033266|PMID:24854265|PMID:25741868|PMID:26809805|PMID:27281700|PMID:28492532|PMID:28844315|PMID:8648925|PMID:9195222 11954403 COL4A5 collagen type IV alpha 5 chain gene DOID:557 kidney disease ISO RGD:1351504 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:10094548|PMID:10561141|PMID:11462238|PMID:12105244|PMID:15780079|PMID:15957001|PMID:17576681|PMID:18343956|PMID:19965530|PMID:22921432|PMID:22995991|PMID:23967202|PMID:24033266|PMID:25575550|PMID:25739341|PMID:25741868|PMID:25788563|PMID:26467025|PMID:27627812|PMID:27725732|PMID:28492532|PMID:28827396|PMID:30311386|PMID:30477285|PMID:30577881|PMID:31138263|PMID:31576025|PMID:8406498|PMID:8455372|PMID:8940267|PMID:9536098 11954403 COL4A5 collagen type IV alpha 5 chain gene DOID:576 proteinuria ISO RGD:1351504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:25741868 11954403 COL4A5 collagen type IV alpha 5 chain gene DOID:630 genetic disease ISO RGD:1351504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10094548|PMID:19344236|PMID:23720012|PMID:25741868|PMID:27627812|PMID:28492532|PMID:30311386|PMID:7695699|PMID:8218237 11954403 COL4A5 collagen type IV alpha 5 chain gene DOID:9000104 Glomerular Diseases ISO RGD:1351504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glomerulopathy PMID:11223851|PMID:12028435|PMID:17396119|PMID:19728970|PMID:19965530|PMID:20378821|PMID:21332469|PMID:21688191|PMID:24077912|PMID:24470729|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:28492532|PMID:28844315|PMID:29142990|PMID:29526710|PMID:29854973|PMID:30691124|PMID:31850286|PMID:33309955|PMID:34008892|PMID:9848783 11954403 COL4A5 collagen type IV alpha 5 chain gene DOID:9000363 Hematuria ISO RGD:1351504 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hematuria PMID:11223851|PMID:12028435|PMID:12796257|PMID:14514738|PMID:14604828|PMID:18083113|PMID:19919694|PMID:19965530|PMID:20130921|PMID:20301386|PMID:20378821|PMID:21505094|PMID:21848006|PMID:24046192|PMID:25741868|PMID:26467025|PMID:27627812|PMID:28492532|PMID:29144512|PMID:29526710|PMID:30311386|PMID:31027891|PMID:9150741 11954403 COL4A5 collagen type IV alpha 5 chain gene DOID:9001767 Unilateral Hearing Loss ISO RGD:1351504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Unilateral deafness PMID:25741868 11954403 COL4A5 collagen type IV alpha 5 chain gene DOID:9004538 Hearing Loss ISO RGD:1351504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:10094548|PMID:11462238|PMID:12105244|PMID:15957001|PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386|PMID:30477285|PMID:8406498|PMID:8455372|PMID:9536098 11954403 COL4A5 collagen type IV alpha 5 chain gene DOID:9005549 Epithelioid Leiomyoma ISO RGD:1351504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17069596 11954460 SLC11A2 solute carrier family 11 member 2 gene DOID:0050425 restless legs syndrome ISO RGD:737578 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pons, thalamus PMID:21710629|REF_RGD_ID:5688410 11954460 SLC11A2 solute carrier family 11 member 2 gene DOID:0080855 Parkinsonism ISO RGD:3684 D RGD:9068941 20200609 RGD PMID:19011085|PMID:20125122|REF_RGD_ID:5688713|REF_RGD_ID:5688715 11954460 SLC11A2 solute carrier family 11 member 2 gene DOID:0080855 Parkinsonism ISO RGD:737579 D RGD:9068941 20200609 RGD PMID:19011085|REF_RGD_ID:5688713 11954460 SLC11A2 solute carrier family 11 member 2 gene DOID:11758 iron deficiency anemia ISO RGD:3684 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity olfactory epithelium PMID:17116743|REF_RGD_ID:2311409 11954460 SLC11A2 solute carrier family 11 member 2 gene DOID:11758 iron deficiency anemia ISO RGD:737578 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17116712 11954460 SLC11A2 solute carrier family 11 member 2 gene DOID:11759 hypochromic anemia ISO RGD:3684 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G185R (human) PMID:9448300|REF_RGD_ID:729808 11954460 SLC11A2 solute carrier family 11 member 2 gene DOID:11759 hypochromic anemia ISO RGD:737578 D RGD:9068941 20200609 RGD DNA:deletion, missense mutation:cds:428_430delGTG, p.G212V (human) PMID:16439678|REF_RGD_ID:1580430 11954460 SLC11A2 solute carrier family 11 member 2 gene DOID:11759 hypochromic anemia ISO RGD:737579 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G185R (human) PMID:9241278|REF_RGD_ID:9743973 11954460 SLC11A2 solute carrier family 11 member 2 gene DOID:14330 Parkinson's disease ISO RGD:737578 D RGD:9068941 20200609 RGD PMID:19011085|REF_RGD_ID:5688713 11954460 SLC11A2 solute carrier family 11 member 2 gene DOID:14330 Parkinson's disease ISO RGD:737578 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:1254T>C(human) PMID:21777657|REF_RGD_ID:5688403 11954460 SLC11A2 solute carrier family 11 member 2 gene DOID:1724 duodenal ulcer ISO RGD:3684 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:duodenal mucosa PMID:19342511|REF_RGD_ID:11541091 11954460 SLC11A2 solute carrier family 11 member 2 gene DOID:2316 brain ischemia ISO RGD:3684 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:21325818|REF_RGD_ID:5688411 11954460 SLC11A2 solute carrier family 11 member 2 gene DOID:2352 hemochromatosis ISO RGD:737578 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11439223 11954460 SLC11A2 solute carrier family 11 member 2 gene DOID:2355 anemia ISO RGD:737578 D RGD:9068941 20200609 RGD associated with Restless leg syndrome: DNA:SNPs:introns: PMID:17510944|REF_RGD_ID:5688718 11954460 SLC11A2 solute carrier family 11 member 2 gene DOID:332 amyotrophic lateral sclerosis onset ISO RGD:737578 D RGD:9068941 20200609 RGD DNA:SNP: :rs407135 (human) PMID:21276595|REF_RGD_ID:5688710 11954460 SLC11A2 solute carrier family 11 member 2 gene DOID:552 pneumonia ISO RGD:3684 D RGD:9068941 20200609 RGD PMID:21278260|REF_RGD_ID:5688709 11954460 SLC11A2 solute carrier family 11 member 2 gene DOID:630 genetic disease ISO RGD:737578 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11954460 SLC11A2 solute carrier family 11 member 2 gene DOID:9000310 Lung Injury ISO RGD:737579 D RGD:9068941 20200609 RGD PMID:20336479|REF_RGD_ID:5688724 11954460 SLC11A2 solute carrier family 11 member 2 gene DOID:9001631 Hypochromic Microcytic Anemia with Iron Overload ISO RGD:737578 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcytic anemia with liver iron overload PMID:15459009|PMID:16023393|PMID:16091455|PMID:16140868|PMID:16160008|PMID:16439678|PMID:25741868|PMID:28492532|PMID:35457224 11954460 SLC11A2 solute carrier family 11 member 2 gene DOID:9005215 Hypochromic Microcytic Anemia with Iron Overload 1 ISO RGD:737578 D RGD:7240710 20190315 OMIM 11954460 SLC11A2 solute carrier family 11 member 2 gene DOID:9005725 Iron Overload ISO RGD:737578 D RGD:9068941 20200609 RGD DNA:snp:exon:c.1285G>C (human) PMID:15459009|REF_RGD_ID:1580431 11954460 SLC11A2 solute carrier family 11 member 2 gene DOID:9007188 Liver Neoplasms ISO RGD:737578 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11954508 INMT indolethylamine N-methyltransferase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1316407 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11954508 INMT indolethylamine N-methyltransferase gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1316407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 11954508 INMT indolethylamine N-methyltransferase gene DOID:10283 prostate cancer ISO RGD:1316407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11954508 INMT indolethylamine N-methyltransferase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11954508 INMT indolethylamine N-methyltransferase gene DOID:630 genetic disease ISO RGD:1316407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11954508 INMT indolethylamine N-methyltransferase gene DOID:684 hepatocellular carcinoma ISO RGD:1316407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11954508 INMT indolethylamine N-methyltransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11954515 ARHGEF33 Rho guanine nucleotide exchange factor 33 gene DOID:0080690 RASopathy ISO RGD:3516342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11954515 ARHGEF33 Rho guanine nucleotide exchange factor 33 gene DOID:3883 Lynch syndrome ISO RGD:3516342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11954515 ARHGEF33 Rho guanine nucleotide exchange factor 33 gene DOID:630 genetic disease ISO RGD:3516342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11954515 ARHGEF33 Rho guanine nucleotide exchange factor 33 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:3516342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11954538 PSMB5 proteasome 20S subunit beta 5 gene DOID:0060439 lysinuric protein intolerance ISO RGD:735704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11954538 PSMB5 proteasome 20S subunit beta 5 gene DOID:630 genetic disease ISO RGD:735704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11954538 PSMB5 proteasome 20S subunit beta 5 gene DOID:9000265 Specific Granule Deficiency ISO RGD:735704 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11954538 PSMB5 proteasome 20S subunit beta 5 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:735704 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11954538 PSMB5 proteasome 20S subunit beta 5 gene DOID:9007102 Myocardial Ischemia ISO RGD:735704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11954546 DPY30 dpy-30 histone methyltransferase complex regulatory subunit gene DOID:0090065 familial cold autoinflammatory syndrome 4 ISO RGD:1603291 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 PMID:28492532 11954546 DPY30 dpy-30 histone methyltransferase complex regulatory subunit gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1603291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:25065914|PMID:28492532 11954546 DPY30 dpy-30 histone methyltransferase complex regulatory subunit gene DOID:607 paraplegia ISO RGD:1603291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 11954546 DPY30 dpy-30 histone methyltransferase complex regulatory subunit gene DOID:9008410 Autoinflammation with Infantile Enterocolitis ISO RGD:1603291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis PMID:28492532 11954559 GRAP2 GRB2 related adaptor protein 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11954559 GRAP2 GRB2 related adaptor protein 2 gene DOID:1883 hepatitis C severity ISO RGD:1316895 D RGD:9068941 20210423 RGD DNA:SNP:intron: (human) PMID:15063762|REF_RGD_ID:126790487 11954559 GRAP2 GRB2 related adaptor protein 2 gene DOID:630 genetic disease ISO RGD:1316895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11954559 GRAP2 GRB2 related adaptor protein 2 gene DOID:9007278 Anaphylaxis ameliorates ISO RGD:1552736 D RGD:9068941 20210423 RGD PMID:18664516|REF_RGD_ID:126790488 11954584 FANCF FA complementation group F gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1345063 D RGD:9068941 20200609 RGD mRNA:decreased expression:tongue: PMID:17409780|REF_RGD_ID:11049143 11954584 FANCF FA complementation group F gene DOID:0111088 Fanconi anemia complementation group F ISO RGD:1345063 D RGD:7240710 20180130 OMIM 11954584 FANCF FA complementation group F gene DOID:0111088 Fanconi anemia complementation group F ISO RGD:1345063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group F PMID:10615118|PMID:11063725|PMID:12649160|PMID:15262960|PMID:16084127|PMID:16774934|PMID:17082180|PMID:17924555|PMID:18271933|PMID:22778927|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26033879|PMID:27714961|PMID:28102861|PMID:28259476|PMID:28492532|PMID:28678401|PMID:29368431|PMID:29625052|PMID:30256826|PMID:30262796|PMID:30680046|PMID:30995915|PMID:31288759|PMID:31882575|PMID:34117267|PMID:9382107 11954584 FANCF FA complementation group F gene DOID:1059 intellectual disability ISO RGD:1345063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11954584 FANCF FA complementation group F gene DOID:13636 Fanconi anemia ISO RGD:1345063 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:10615118|PMID:16084127|PMID:16774934|PMID:17924555|PMID:18271933|PMID:24728327|PMID:25741868|PMID:27714961|PMID:28259476|PMID:28492532|PMID:30256826|PMID:30262796|PMID:30995915|PMID:31882575|PMID:34117267|PMID:9382107 11954584 FANCF FA complementation group F gene DOID:13636 Fanconi anemia ISO RGD:1345063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:10615118|PMID:11063725|PMID:12649160|PMID:15262960|PMID:16084127|PMID:16774934|PMID:17082180|PMID:17924555|PMID:18271933|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26033879|PMID:27714961|PMID:28102861|PMID:28259476|PMID:28492532|PMID:28678401|PMID:29368431|PMID:29625052|PMID:30256826|PMID:30262796|PMID:30680046|PMID:30995915|PMID:31882575|PMID:34117267|PMID:9382107 11954584 FANCF FA complementation group F gene DOID:14566 disease of cellular proliferation susceptibility ISO RGD:2290337 D RGD:9068941 20200609 RGD PMID:21915857|REF_RGD_ID:11049141 11954584 FANCF FA complementation group F gene DOID:1612 breast cancer ISO RGD:1345063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:24728327|PMID:25741868|PMID:28492532 11954584 FANCF FA complementation group F gene DOID:2394 ovarian cancer ISO RGD:1345063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:28492532 11954584 FANCF FA complementation group F gene DOID:2999 granulosa cell tumor disease_progression ISO RGD:1345063 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:15574200|REF_RGD_ID:2298508 11954584 FANCF FA complementation group F gene DOID:2999 granulosa cell tumor susceptibility ISO RGD:2290337 D RGD:9068941 20200609 RGD PMID:21915857|REF_RGD_ID:11049141 11954584 FANCF FA complementation group F gene DOID:4943 adenocarcinoma in situ disease_progression ISO RGD:1345063 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:14647419|REF_RGD_ID:11049137 11954584 FANCF FA complementation group F gene DOID:5426 primary ovarian insufficiency ISO RGD:2290337 D RGD:9068941 20220825 MouseDO OMIM:300510 | OMIM:300511 | OMIM:300604 | OMIM:311360 | OMIM:608996 | OMIM:611548 | OMIM:612310 | OMIM:612964 | OMIM:615723 | OMIM:615724 11954584 FANCF FA complementation group F gene DOID:630 genetic disease ISO RGD:1345063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11954584 FANCF FA complementation group F gene DOID:9002762 Ovarian Neoplasms ISO RGD:1345063 D RGD:9068941 20200609 RGD DNA, mRNA, protein:hypermethylation, decreased expression:ovary PMID:16418574|REF_RGD_ID:2290044 11954584 FANCF FA complementation group F gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1345063 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:18414472|REF_RGD_ID:2298507 11954584 FANCF FA complementation group F gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1345063 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:15126331|REF_RGD_ID:2290045 11954589 CHGB chromogranin B gene DOID:0090103 Huntington's disease-like 1 ISO RGD:737067 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11954589 CHGB chromogranin B gene DOID:10283 prostate cancer ISO RGD:737067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11954589 CHGB chromogranin B gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:737067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11954589 CHGB chromogranin B gene DOID:630 genetic disease ISO RGD:737067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11954598 GPR63 G protein-coupled receptor 63 gene DOID:630 genetic disease ISO RGD:1315091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11954610 DSG3 desmoglein 3 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1348238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis PMID:28492532 11954610 DSG3 desmoglein 3 gene DOID:0060851 pemphigus vulgaris ISO RGD:1620126 D RGD:9068941 20220825 MouseDO OMIM:169610 11954610 DSG3 desmoglein 3 gene DOID:1059 intellectual disability ISO RGD:1348238 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11954610 DSG3 desmoglein 3 gene DOID:630 genetic disease ISO RGD:1348238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11954610 DSG3 desmoglein 3 gene DOID:9005119 BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA ISO RGD:1348238 D RGD:7240710 20210407 OMIM 11954610 DSG3 desmoglein 3 gene DOID:9005119 BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA ISO RGD:1348238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blistering, acantholytic, of oral and laryngeal mucosa PMID:30528827 11954630 UTP15 UTP15 small subunit processome component gene DOID:630 genetic disease ISO RGD:1604578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11954630 UTP15 UTP15 small subunit processome component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11954647 MEX3B mex-3 RNA binding family member B gene DOID:2717 Bloom syndrome ISO RGD:1346115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11954647 MEX3B mex-3 RNA binding family member B gene DOID:630 genetic disease ISO RGD:1346115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11954647 MEX3B mex-3 RNA binding family member B gene DOID:9256 colorectal cancer ISO RGD:1346115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11954657 ZNF85 zinc finger protein 85 gene DOID:630 genetic disease ISO RGD:1343266 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11954683 LOC103785200 keratin-associated protein 21-2 gene DOID:630 genetic disease ISO RGD:1349542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11954699 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1323042 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:15329069|PMID:23542697|PMID:24814846|PMID:25741868|PMID:28492532|PMID:28549235|PMID:31639411 11954699 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:0080462 developmental and epileptic encephalopathy 7 ISO RGD:1323042 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Continuous spike and waves during slow-wave sleep syndrome PMID:25741868|PMID:28492532 11954699 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1323042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25741868|PMID:28492532|PMID:28549235|PMID:31639411 11954699 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1323042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 11954699 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:0112218 developmental and epileptic encephalopathy 83 ISO RGD:1323042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 83 PMID:25741868|PMID:28492532 11954699 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:1059 intellectual disability ISO RGD:1323042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23542697|PMID:23542701|PMID:25741868|PMID:26467025|PMID:28492532 11954699 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:11832 visual epilepsy ISO RGD:1323042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:14510823|PMID:20864493|PMID:23542697|PMID:23542701|PMID:23869883|PMID:24283814|PMID:25366275|PMID:25599672|PMID:25741868|PMID:26000329|PMID:26467025|PMID:26505888|PMID:27066554|PMID:28102150|PMID:28166811|PMID:28492532|PMID:28717674|PMID:29356177|PMID:29358611|PMID:30093711 11954699 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:11832 visual epilepsy ISO RGD:1323042 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizure PMID:14510823|PMID:20864493|PMID:23542697|PMID:23542701|PMID:23869883|PMID:24283814|PMID:25366275|PMID:25599672|PMID:25741868|PMID:26000329|PMID:26467025|PMID:26505888|PMID:27066554|PMID:28102150|PMID:28492532|PMID:28717674|PMID:29356177|PMID:29358611 11954699 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:1826 epilepsy ISO RGD:1323042 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:14510823|PMID:20864493|PMID:23542697|PMID:23542701|PMID:23869883|PMID:24283814|PMID:25366275|PMID:25599672|PMID:25741868|PMID:26000329|PMID:26467025|PMID:26505888|PMID:27066554|PMID:28102150|PMID:28492532|PMID:28717674|PMID:29356177|PMID:29358611 11954699 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:1826 epilepsy ISO RGD:1323042 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:10825362|PMID:14510823|PMID:20864493|PMID:23542697|PMID:23542701|PMID:23869883|PMID:24283814|PMID:25366275|PMID:25599672|PMID:25623524|PMID:25741868|PMID:26000329|PMID:26467025|PMID:26505888|PMID:27066554|PMID:28102150|PMID:28492532|PMID:28717674|PMID:29356177|PMID:29358611|PMID:30767899|PMID:32848577 11954699 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:1826 epilepsy ISO RGD:1323042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:10825362|PMID:16199547|PMID:23542697|PMID:23542701|PMID:25623524|PMID:25741868|PMID:28492532|PMID:30093711 11954699 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:3070 high grade glioma ISO RGD:1323042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11954699 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1323042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:24591017|PMID:25366275|PMID:25741868|PMID:26505888|PMID:28166811|PMID:28492532|PMID:29358611 11954699 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:630 genetic disease ISO RGD:1323042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14510823|PMID:16199547|PMID:17576681|PMID:20864493|PMID:22780917|PMID:23542697|PMID:23542701|PMID:23609619|PMID:23869883|PMID:24283814|PMID:24585383|PMID:25366275|PMID:25599672|PMID:25741868|PMID:26000329|PMID:26467025|PMID:26505888|PMID:26704558|PMID:27066554|PMID:28102150|PMID:28170089|PMID:28492532|PMID:28717674|PMID:29057844|PMID:29356177|PMID:29358611|PMID:30093711|PMID:30427063|PMID:30767899|PMID:31139143|PMID:31594065|PMID:32848577|PMID:9536098|PMID:9851433 11954699 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:684 hepatocellular carcinoma ISO RGD:1323042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21725309 11954699 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1323042 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 11954699 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:9001601 Familial Focal Epilepsy, with Variable Foci 1 ISO RGD:1323042 D RGD:7240710 20180130 OMIM 11954699 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:9001601 Familial Focal Epilepsy, with Variable Foci 1 ISO RGD:1323042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DEPDC5-Related Disorder | ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 1 | ClinVar Annotator: match by term: Familial focal epilepsy with variable foci PMID:10577924|PMID:10825362|PMID:14510823|PMID:15329069|PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:20864493|PMID:22406018|PMID:22780917|PMID:23542697|PMID:23542701|PMID:23609619|PMID:23869883|PMID:24283814|PMID:24585383|PMID:24591017|PMID:24814846|PMID:25366275|PMID:25599672|PMID:25623524|PMID:25640679|PMID:25741868|PMID:25741869|PMID:25989649|PMID:26000329|PMID:26216793|PMID:26467025|PMID:26505888|PMID:26704558|PMID:27066544|PMID:27066554|PMID:27066565|PMID:27159400|PMID:27173016|PMID:28102150|PMID:28166811|PMID:28170089|PMID:28199897|PMID:28492532|PMID:28549235|PMID:28677221|PMID:28717674|PMID:29057844|PMID:29356177|PMID:29358611|PMID:29761115|PMID:30093711|PMID:30166713|PMID:30427063|PMID:30525188|PMID:30767899|PMID:31139143|PMID:31594065|PMID:31639411|PMID:31875159|PMID:31957018|PMID:32086284|PMID:32848577|PMID:34239491|PMID:9536098|PMID:9851433 11954699 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:9007 sudden infant death syndrome ISO RGD:1323042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868 11954699 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:9008086 Developmental Disabilities ISO RGD:1323042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11954699 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:9008582 Developmental Disease ISO RGD:1323042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11954772 SORBS1 sorbin and SH3 domain containing 1 gene DOID:10283 prostate cancer ISO RGD:1320080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11954772 SORBS1 sorbin and SH3 domain containing 1 gene DOID:630 genetic disease ISO RGD:1320080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11954772 SORBS1 sorbin and SH3 domain containing 1 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:1320081 D RGD:9068941 20200609 RGD PMID:17351624|REF_RGD_ID:1642731 11954772 SORBS1 sorbin and SH3 domain containing 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1320080 D RGD:9068941 20200609 RGD DNA:SNP: :p.T228A (human) PMID:11532984|REF_RGD_ID:1642744 11954772 SORBS1 sorbin and SH3 domain containing 1 gene DOID:9970 obesity ISO RGD:1320080 D RGD:9068941 20200609 RGD DNA:SNP: :p.T228A (human) PMID:11532984|REF_RGD_ID:1642744 11954822 RNF38 ring finger protein 38 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:737292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11954822 RNF38 ring finger protein 38 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:737292 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11954822 RNF38 ring finger protein 38 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:737292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11954822 RNF38 ring finger protein 38 gene DOID:630 genetic disease ISO RGD:737292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11954822 RNF38 ring finger protein 38 gene DOID:9562 primary ciliary dyskinesia ISO RGD:737292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11954822 RNF38 ring finger protein 38 gene DOID:9870 galactosemia ISO RGD:737292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11954885 NAALADL1 N-acetylated alpha-linked acidic dipeptidase like 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:732561 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11954885 NAALADL1 N-acetylated alpha-linked acidic dipeptidase like 1 gene DOID:1059 intellectual disability ISO RGD:732561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11954885 NAALADL1 N-acetylated alpha-linked acidic dipeptidase like 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732561 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11954885 NAALADL1 N-acetylated alpha-linked acidic dipeptidase like 1 gene DOID:2746 glycogen storage disease V ISO RGD:732561 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11954885 NAALADL1 N-acetylated alpha-linked acidic dipeptidase like 1 gene DOID:3070 high grade glioma ISO RGD:732561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11954885 NAALADL1 N-acetylated alpha-linked acidic dipeptidase like 1 gene DOID:630 genetic disease ISO RGD:732561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11954907 ERN1 endoplasmic reticulum to nucleus signaling 1 gene DOID:0060478 Zika fever ISO RGD:1558600 D RGD:9068941 20200702 RGD PMID:30241539|REF_RGD_ID:32733625 11954907 ERN1 endoplasmic reticulum to nucleus signaling 1 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1605125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 11954907 ERN1 endoplasmic reticulum to nucleus signaling 1 gene DOID:1826 epilepsy ISO RGD:1605125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19558813 11954907 ERN1 endoplasmic reticulum to nucleus signaling 1 gene DOID:2377 multiple sclerosis ISO RGD:1605125 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30661753 11954907 ERN1 endoplasmic reticulum to nucleus signaling 1 gene DOID:630 genetic disease ISO RGD:1605125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11954907 ERN1 endoplasmic reticulum to nucleus signaling 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1605125 D RGD:9068941 20200702 RGD DNA:hypomethylation: CpG islands: PMID:20165882|REF_RGD_ID:14694974 11954907 ERN1 endoplasmic reticulum to nucleus signaling 1 gene DOID:8557 oropharynx cancer disease_progression ISO RGD:1605125 D RGD:9068941 20200702 RGD PMID:31187548|REF_RGD_ID:32716423 11954907 ERN1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1605125 D RGD:9068941 20200702 RGD mRNA, protein:decreased expression:liver PMID:26234401|REF_RGD_ID:32716425 11954907 ERN1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:1559716 D RGD:9068941 20200709 RGD PMID:29169414|PMID:30226536|REF_RGD_ID:34901873|REF_RGD_ID:35316073 11954907 ERN1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30538632 11954907 ERN1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:1559716 D RGD:9068941 20200702 RGD PMID:31836774|REF_RGD_ID:32733624 11954907 ERN1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1605125 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30661753 11954907 ERN1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9004283 Transplant Rejection treatment ISO RGD:1559716 D RGD:9068941 20200709 RGD PMID:31828147|REF_RGD_ID:35316072 11954907 ERN1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1559716 D RGD:9068941 20200709 RGD associated with Crush Injuries PMID:30465396|REF_RGD_ID:34901874 11954907 ERN1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1605125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30538632 11954907 ERN1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9008022 Temporomandibular Joint Osteoarthritis ISO RGD:1559716 D RGD:9068941 20200709 RGD PMID:31007149|REF_RGD_ID:34888237 11954933 C4H4orf48 chromosome 4 C4orf48 homolog gene DOID:1856 cherubism ISO RGD:2301122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11954933 C4H4orf48 chromosome 4 C4orf48 homolog gene DOID:630 genetic disease ISO RGD:2301122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11954939 FAR2 fatty acyl-CoA reductase 2 gene DOID:10140 dry eye syndrome ISO RGD:1556953 D RGD:9068941 20221103 MouseDO 11954939 FAR2 fatty acyl-CoA reductase 2 gene DOID:630 genetic disease ISO RGD:1344680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11954939 FAR2 fatty acyl-CoA reductase 2 gene DOID:987 alopecia ISO RGD:1556953 D RGD:9068941 20220825 MouseDO OMIM:300042 11954958 SYNPR synaptoporin gene DOID:630 genetic disease ISO RGD:731737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11954974 TRIM24 tripartite motif containing 24 gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1350727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27238081 11954974 TRIM24 tripartite motif containing 24 gene DOID:2394 ovarian cancer ISO RGD:1350727 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 11954974 TRIM24 tripartite motif containing 24 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11954974 TRIM24 tripartite motif containing 24 gene DOID:630 genetic disease ISO RGD:1350727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11954974 TRIM24 tripartite motif containing 24 gene DOID:684 hepatocellular carcinoma ISO RGD:1350727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18026104 11954974 TRIM24 tripartite motif containing 24 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11955013 ALDOC aldolase, fructose-bisphosphate C gene DOID:438 autoimmune disease of the nervous system ISO RGD:69125 D RGD:9068941 20200609 RGD associated with Streptococcal Infections PMID:16356555|REF_RGD_ID:2301134 11955013 ALDOC aldolase, fructose-bisphosphate C gene DOID:5154 borna disease ISO RGD:2091 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cerebellum, Purkinje cell PMID:17182680|REF_RGD_ID:2301132 11955013 ALDOC aldolase, fructose-bisphosphate C gene DOID:630 genetic disease ISO RGD:69125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955013 ALDOC aldolase, fructose-bisphosphate C gene DOID:684 hepatocellular carcinoma ISO RGD:2091 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:3830170|REF_RGD_ID:2301136 11955013 ALDOC aldolase, fructose-bisphosphate C gene DOID:9007096 Stroke ISO RGD:69125 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:17053973|REF_RGD_ID:2301133 11955030 CRISP1 cysteine rich secretory protein 1 gene DOID:630 genetic disease ISO RGD:1603324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955049 CUL4A cullin 4A gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1351332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 11955049 CUL4A cullin 4A gene DOID:0060224 atrial fibrillation ISO RGD:1351332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11955049 CUL4A cullin 4A gene DOID:2222 factor X deficiency ISO RGD:1351332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 11955049 CUL4A cullin 4A gene DOID:630 genetic disease ISO RGD:1351332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955081 GLB1L2 galactosidase beta 1 like 2 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1606483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11955081 GLB1L2 galactosidase beta 1 like 2 gene DOID:5419 schizophrenia ISO RGD:1606483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11955081 GLB1L2 galactosidase beta 1 like 2 gene DOID:630 genetic disease ISO RGD:1606483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955081 GLB1L2 galactosidase beta 1 like 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11955122 TNIP2 TNFAIP3 interacting protein 2 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1317070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 11955122 TNIP2 TNFAIP3 interacting protein 2 gene DOID:1856 cherubism ISO RGD:1317070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11955122 TNIP2 TNFAIP3 interacting protein 2 gene DOID:630 genetic disease ISO RGD:1317070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955149 NRIP2 nuclear receptor interacting protein 2 gene DOID:630 genetic disease ISO RGD:1350542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955149 NRIP2 nuclear receptor interacting protein 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1350542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11955164 MTERF2 mitochondrial transcription termination factor 2 gene DOID:0080600 COVID-19 ISO RGD:1604591 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11955164 MTERF2 mitochondrial transcription termination factor 2 gene DOID:630 genetic disease ISO RGD:1604591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955198 DDAH2 dimethylarginine dimethylaminohydrolase 2 gene DOID:0050553 JMP syndrome ISO RGD:1346413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11955198 DDAH2 dimethylarginine dimethylaminohydrolase 2 gene DOID:10591 pre-eclampsia ISO RGD:1346413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22285683 11955198 DDAH2 dimethylarginine dimethylaminohydrolase 2 gene DOID:3393 coronary artery disease ISO RGD:1346413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17267746 11955198 DDAH2 dimethylarginine dimethylaminohydrolase 2 gene DOID:630 genetic disease ISO RGD:1346413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955217 GREM1 gremlin 1, DAN family BMP antagonist gene DOID:0050424 familial adenomatous polyposis ISO RGD:1346462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561515 11955217 GREM1 gremlin 1, DAN family BMP antagonist gene DOID:0111684 hereditary mixed polyposis syndrome ISO RGD:1346462 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary mixed polyposis syndrome PMID:33208383 11955217 GREM1 gremlin 1, DAN family BMP antagonist gene DOID:2717 Bloom syndrome ISO RGD:1346462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11955217 GREM1 gremlin 1, DAN family BMP antagonist gene DOID:3770 pulmonary fibrosis ISO RGD:1346462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17975199 11955217 GREM1 gremlin 1, DAN family BMP antagonist gene DOID:5426 primary ovarian insufficiency ISO RGD:1346462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 11955217 GREM1 gremlin 1, DAN family BMP antagonist gene DOID:9000217 Stomach Neoplasms ISO RGD:1346462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11955217 GREM1 gremlin 1, DAN family BMP antagonist gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346462 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26845104|PMID:28492532|PMID:33208383 11955217 GREM1 gremlin 1, DAN family BMP antagonist gene DOID:9008443 Colorectal Neoplasms ISO RGD:1346462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18084292|PMID:30510241 11955217 GREM1 gremlin 1, DAN family BMP antagonist gene DOID:9256 colorectal cancer ISO RGD:1346462 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25741868|PMID:25992589|PMID:26493165|PMID:26947005|PMID:28492532|PMID:29804199 11955223 APOBEC3B apolipoprotein B mRNA editing enzyme catalytic subunit 3B gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1347030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11955223 APOBEC3B apolipoprotein B mRNA editing enzyme catalytic subunit 3B gene DOID:11054 urinary bladder cancer ISO RGD:1347030 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23852168|PMID:27643540 11955223 APOBEC3B apolipoprotein B mRNA editing enzyme catalytic subunit 3B gene DOID:14566 disease of cellular proliferation ISO RGD:1347030 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26258849 11955223 APOBEC3B apolipoprotein B mRNA editing enzyme catalytic subunit 3B gene DOID:1749 squamous cell carcinoma ISO RGD:1347030 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23852168 11955223 APOBEC3B apolipoprotein B mRNA editing enzyme catalytic subunit 3B gene DOID:3910 lung adenocarcinoma ISO RGD:1347030 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23852168 11955223 APOBEC3B apolipoprotein B mRNA editing enzyme catalytic subunit 3B gene DOID:630 genetic disease ISO RGD:1347030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955223 APOBEC3B apolipoprotein B mRNA editing enzyme catalytic subunit 3B gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1347030 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23852168 11955223 APOBEC3B apolipoprotein B mRNA editing enzyme catalytic subunit 3B gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1347030 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23852168 11955223 APOBEC3B apolipoprotein B mRNA editing enzyme catalytic subunit 3B gene DOID:9008192 Neoplastic Processes ISO RGD:1347030 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26258849 11955223 APOBEC3B apolipoprotein B mRNA editing enzyme catalytic subunit 3B gene DOID:9008939 Breast Neoplasms ISO RGD:1347030 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23389445|PMID:23852168|PMID:24728294|PMID:27643540 11955240 FAM136A family with sequence similarity 136 member A gene DOID:630 genetic disease ISO RGD:1605923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955240 FAM136A family with sequence similarity 136 member A gene DOID:9849 Meniere's disease ISO RGD:1605923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:25305078 11955247 IFRD1 interferon related developmental regulator 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:69163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:19409521 11955247 IFRD1 interferon related developmental regulator 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:69163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 11955247 IFRD1 interferon related developmental regulator 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11955247 IFRD1 interferon related developmental regulator 1 gene DOID:5419 schizophrenia ISO RGD:69163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11955247 IFRD1 interferon related developmental regulator 1 gene DOID:630 genetic disease ISO RGD:69163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955247 IFRD1 interferon related developmental regulator 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11955247 IFRD1 interferon related developmental regulator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11955266 PAX5 paired box 5 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1352156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11955266 PAX5 paired box 5 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1352156 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11955266 PAX5 paired box 5 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1352156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24013638|PMID:30643249 11955266 PAX5 paired box 5 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1352156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11955266 PAX5 paired box 5 gene DOID:630 genetic disease ISO RGD:1352156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:35094443 11955266 PAX5 paired box 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:35094443 11955266 PAX5 paired box 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11955266 PAX5 paired box 5 gene DOID:9870 galactosemia ISO RGD:1352156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11955266 PAX5 paired box 5 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1352156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to, 3 PMID:24013638|PMID:24728327|PMID:25741868|PMID:28492532|PMID:30643249|PMID:35094443 11955266 PAX5 paired box 5 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:1352156 D RGD:7240710 20200325 OMIM 11955298 TMEM254 transmembrane protein 254 gene DOID:630 genetic disease ISO RGD:1313865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955298 TMEM254 transmembrane protein 254 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11955322 ITPA inosine triphosphatase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1348154 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:26224535 11955322 ITPA inosine triphosphatase gene DOID:0080458 developmental and epileptic encephalopathy 35 ISO RGD:1348154 D RGD:7240710 20180130 OMIM 11955322 ITPA inosine triphosphatase gene DOID:0080458 developmental and epileptic encephalopathy 35 ISO RGD:1348154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 35 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 35 PMID:12384777|PMID:16199547|PMID:20173735|PMID:20547162|PMID:21274861|PMID:22992668|PMID:25741868|PMID:26224535|PMID:26438033|PMID:26441325|PMID:26670100|PMID:28492532|PMID:30856165|PMID:32129147 11955322 ITPA inosine triphosphatase gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1348154 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11955322 ITPA inosine triphosphatase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1348154 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:26224535 11955322 ITPA inosine triphosphatase gene DOID:13714 anodontia ISO RGD:1348154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Partial congenital absence of teeth PMID:25741868|PMID:26224535|PMID:28492532|PMID:30856165 11955322 ITPA inosine triphosphatase gene DOID:1588 thrombocytopenia ISO RGD:1348154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18662289 11955322 ITPA inosine triphosphatase gene DOID:1588 thrombocytopenia treatment ISO RGD:1348154 D RGD:9068941 20200609 RGD associated with Hepatitis C;DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human) PMID:24519039|REF_RGD_ID:10766473 11955322 ITPA inosine triphosphatase gene DOID:1826 epilepsy ISO RGD:1348154 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11955322 ITPA inosine triphosphatase gene DOID:1883 hepatitis C disease_progression ISO RGD:1348154 D RGD:9068941 20200609 RGD DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human) PMID:24519039|REF_RGD_ID:10766473 11955322 ITPA inosine triphosphatase gene DOID:2355 anemia ISO RGD:1348154 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic:DNA:SNP: :rs1127354 (human) PMID:22571903|REF_RGD_ID:14975306 11955322 ITPA inosine triphosphatase gene DOID:2355 anemia treatment ISO RGD:1348154 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic:DNA:SNPs: :rs7270101, rs1127354 (human) PMID:26154744|REF_RGD_ID:11074414 11955322 ITPA inosine triphosphatase gene DOID:2566 corneal dystrophy ISO RGD:1348154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal dystrophy 11955322 ITPA inosine triphosphatase gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1348154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11955322 ITPA inosine triphosphatase gene DOID:583 hemolytic anemia ISO RGD:1348154 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20547162 11955322 ITPA inosine triphosphatase gene DOID:583 hemolytic anemia treatment ISO RGD:1348154 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNPs: :rs1127354, rs6051702, rs7270101 (human) PMID:23933495|REF_RGD_ID:10766479 11955322 ITPA inosine triphosphatase gene DOID:583 hemolytic anemia treatment ISO RGD:1348154 D RGD:9068941 20200609 RGD associated with Hepatitis C;DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human) PMID:21274861|REF_RGD_ID:10766472 11955322 ITPA inosine triphosphatase gene DOID:630 genetic disease ISO RGD:1348154 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26224535|PMID:28492532|PMID:30856165 11955322 ITPA inosine triphosphatase gene DOID:655 inherited metabolic disorder ISO RGD:1348154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12384777|PMID:20547162 11955322 ITPA inosine triphosphatase gene DOID:7148 rheumatoid arthritis treatment ISO RGD:1348154 D RGD:9068941 20200609 RGD DNA:SNP: :94C>A(human) PMID:29441893|REF_RGD_ID:14975307 11955322 ITPA inosine triphosphatase gene DOID:9002801 Recurrence ISO RGD:1348154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23029095 11955322 ITPA inosine triphosphatase gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia ISO RGD:1348154 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :rs41320251 (human) PMID:18685564|REF_RGD_ID:10766478 11955322 ITPA inosine triphosphatase gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1348154 D RGD:7240710 20180130 OMIM 11955322 ITPA inosine triphosphatase gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1348154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INOSINE TRIPHOSPHATE PYROPHOSPHOHYDROLASE DEFICIENCY | ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:11278832|PMID:12384777|PMID:12436200|PMID:16199547|PMID:17576681|PMID:19631656|PMID:20173735|PMID:20547162|PMID:20637204|PMID:21246582|PMID:21274861|PMID:21503919|PMID:22992668|PMID:23707372|PMID:23730840|PMID:25741868|PMID:26071337|PMID:26224535|PMID:26438033|PMID:26441325|PMID:26670100|PMID:26916827|PMID:27833958|PMID:28492532|PMID:30856165|PMID:32129147|PMID:33593863|PMID:9536098 11955322 ITPA inosine triphosphatase gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:1348154 D RGD:9068941 20200609 RGD DNA:SNP:intron PMID:22009189|REF_RGD_ID:10766474 11955322 ITPA inosine triphosphatase gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:1348154 D RGD:9068941 20200609 RGD DNA:SNPs:exon:94C>A, 138G>A (human) PMID:22009189|REF_RGD_ID:10766474 11955338 EGF epidermal growth factor gene DOID:0050782 Zollinger-Ellison syndrome ISO RGD:736832 D RGD:9068941 20200609 RGD protein:increased expression:saliva PMID:10811321|REF_RGD_ID:2317668 11955338 EGF epidermal growth factor gene DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia ISO RGD:736832 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:24119107|REF_RGD_ID:10059681 11955338 EGF epidermal growth factor gene DOID:0060071 pre-malignant neoplasm ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26390243 11955338 EGF epidermal growth factor gene DOID:0060879 primary hypomagnesemia ISO RGD:736832 D RGD:9068941 20200609 RGD PMID:17671655|REF_RGD_ID:6906911 11955338 EGF epidermal growth factor gene DOID:0060880 renal hypomagnesemia 3 ISO RGD:736832 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive PMID:28492532 11955338 EGF epidermal growth factor gene DOID:0060881 renal hypomagnesemia 5 with ocular involvement ISO RGD:736832 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive PMID:28492532 11955338 EGF epidermal growth factor gene DOID:0060882 renal hypomagnesemia 4 ISO RGD:736832 D RGD:7240710 20180130 OMIM 11955338 EGF epidermal growth factor gene DOID:0060882 renal hypomagnesemia 4 ISO RGD:736832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 4 PMID:17576681|PMID:17671655|PMID:25741868|PMID:28492532|PMID:9536098 11955338 EGF epidermal growth factor gene DOID:0080162 lupus nephritis ISO RGD:736832 D RGD:9068941 20200609 RGD PMID:21354048|REF_RGD_ID:5688301 11955338 EGF epidermal growth factor gene DOID:10652 Alzheimer's disease ISO RGD:736832 D RGD:9068941 20200609 RGD protein:decreased expression:platelet PMID:21875409|REF_RGD_ID:10059680 11955338 EGF epidermal growth factor gene DOID:10808 gastric ulcer ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9324159|PMID:9479624 11955338 EGF epidermal growth factor gene DOID:12385 shigellosis treatment ISO RGD:10510 D RGD:9068941 20201022 RGD PMID:30615126|REF_RGD_ID:39938959 11955338 EGF epidermal growth factor gene DOID:12849 autistic disorder ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17626784 11955338 EGF epidermal growth factor gene DOID:1380 endometrial cancer severity ISO RGD:736832 D RGD:9068941 20200609 RGD DNA:snps:5'utr:multiple (human) PMID:19319135|REF_RGD_ID:13673915 11955338 EGF epidermal growth factor gene DOID:14330 Parkinson's disease disease_progression ISO RGD:736832 D RGD:9068941 20200609 RGD PMID:21520231|REF_RGD_ID:10059679 11955338 EGF epidermal growth factor gene DOID:1793 pancreatic cancer disease_progression ISO RGD:736832 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:1347773|REF_RGD_ID:2317650 11955338 EGF epidermal growth factor gene DOID:2394 ovarian cancer ISO RGD:736832 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:22914212|REF_RGD_ID:13673914 11955338 EGF epidermal growth factor gene DOID:2723 dermatitis ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27206134 11955338 EGF epidermal growth factor gene DOID:299 adenocarcinoma ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23064031 11955338 EGF epidermal growth factor gene DOID:3021 acute kidney failure ISO RGD:736832 D RGD:9068941 20200609 RGD PMID:20482449|REF_RGD_ID:6906908 11955338 EGF epidermal growth factor gene DOID:3068 glioblastoma ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16598420 11955338 EGF epidermal growth factor gene DOID:3068 glioblastoma susceptibility ISO RGD:736832 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:+61A>G(human) PMID:22481252|REF_RGD_ID:13702472 11955338 EGF epidermal growth factor gene DOID:3070 high grade glioma susceptibility ISO RGD:736832 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:+61A>G(human) PMID:22106858|REF_RGD_ID:13702473 11955338 EGF epidermal growth factor gene DOID:3070 high grade glioma susceptibility ISO RGD:736832 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:GG genotypes were associated with increased risk. PMID:17473192|REF_RGD_ID:13702474 11955338 EGF epidermal growth factor gene DOID:3121 gallbladder cancer ISO RGD:736832 D RGD:9068941 20200609 RGD PMID:8093356|REF_RGD_ID:2317646 11955338 EGF epidermal growth factor gene DOID:3121 gallbladder cancer susceptibility ISO RGD:736832 D RGD:9068941 20200609 RGD DNA:SNP: :+61A>G (rs4444903)(human) PMID:18571008|REF_RGD_ID:2317641 11955338 EGF epidermal growth factor gene DOID:3181 oligodendroglioma susceptibility ISO RGD:736832 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:GG genotypes were associated with increased risk. PMID:17473192|REF_RGD_ID:13702474 11955338 EGF epidermal growth factor gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:736832 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:18505086|REF_RGD_ID:2317644 11955338 EGF epidermal growth factor gene DOID:3770 pulmonary fibrosis ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17266442 11955338 EGF epidermal growth factor gene DOID:3908 lung non-small cell carcinoma ISO RGD:736832 D RGD:9068941 20200609 RGD PMID:25992884|REF_RGD_ID:13464350 11955338 EGF epidermal growth factor gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:736832 D RGD:9068941 20200609 RGD PMID:26927662|REF_RGD_ID:13464348 11955338 EGF epidermal growth factor gene DOID:3910 lung adenocarcinoma ISO RGD:736832 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A61G (human) PMID:26625757|REF_RGD_ID:11538684 11955338 EGF epidermal growth factor gene DOID:4455 hereditary renal cell carcinoma ISO RGD:736832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary renal cell carcinoma 11955338 EGF epidermal growth factor gene DOID:4989 pancreatitis ISO RGD:736832 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:20127414|REF_RGD_ID:2317638 11955338 EGF epidermal growth factor gene DOID:5419 schizophrenia ISO RGD:736832 D RGD:9068941 20200609 RGD protein:decreased expression:brain, serum PMID:12192610|REF_RGD_ID:5131451 11955338 EGF epidermal growth factor gene DOID:552 pneumonia resistance ISO RGD:10510 D RGD:9068941 20200609 RGD PMID:21701422|REF_RGD_ID:6906904 11955338 EGF epidermal growth factor gene DOID:557 kidney disease ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21865292 11955338 EGF epidermal growth factor gene DOID:630 genetic disease ISO RGD:736832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11955338 EGF epidermal growth factor gene DOID:674 cleft palate ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11399798 11955338 EGF epidermal growth factor gene DOID:676 juvenile rheumatoid arthritis ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11955338 EGF epidermal growth factor gene DOID:684 hepatocellular carcinoma ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9029167 11955338 EGF epidermal growth factor gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:736832 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:SNP:exon: (rs11569017) (human) PMID:23790025|REF_RGD_ID:14695014 11955338 EGF epidermal growth factor gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:736832 D RGD:9068941 20200609 RGD associated with liver cirrhosis;DNA:SNP:5'UTR: (rs4444903) (human) PMID:18167406|REF_RGD_ID:14695013 11955338 EGF epidermal growth factor gene DOID:9000156 Metaplasia ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26390243 11955338 EGF epidermal growth factor gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14514962 11955338 EGF epidermal growth factor gene DOID:9000918 Disease Progression ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21794976 11955338 EGF epidermal growth factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21942447|PMID:23064031 11955338 EGF epidermal growth factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11955338 EGF epidermal growth factor gene DOID:9001600 Wounds and Injuries ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21967610 11955338 EGF epidermal growth factor gene DOID:9002165 Diabetic Nephropathies ISO RGD:736832 D RGD:9068941 20200609 RGD PMID:17475821|REF_RGD_ID:6906912 11955338 EGF epidermal growth factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16340751 11955338 EGF epidermal growth factor gene DOID:9004009 Reperfusion Injury ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 11955338 EGF epidermal growth factor gene DOID:9004009 Reperfusion Injury resistance ISO RGD:736832 D RGD:9068941 20200609 RGD PMID:16417467|REF_RGD_ID:6906916 11955338 EGF epidermal growth factor gene DOID:9004210 Tympanic Membrane Perforation treatment ISO RGD:736832 D RGD:9068941 20200609 RGD PMID:1437205|REF_RGD_ID:11556276 11955338 EGF epidermal growth factor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15802018|PMID:22869556|PMID:23064031|PMID:24587105|PMID:27634460 11955338 EGF epidermal growth factor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12687016|PMID:18245498|PMID:18995957 11955338 EGF epidermal growth factor gene DOID:9007715 Endometrial Neoplasms severity ISO RGD:736832 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:25416211|REF_RGD_ID:13432197 11955338 EGF epidermal growth factor gene DOID:9008114 Helicobacter Infections treatment ISO RGD:736832 D RGD:9068941 20200911 RGD associated with gastritis; PMID:25051417|REF_RGD_ID:38599160 11955338 EGF epidermal growth factor gene DOID:9008782 AIDS-Associated Nephropathy ISO RGD:736832 D RGD:9068941 20200609 RGD PMID:19357719|REF_RGD_ID:6906909 11955338 EGF epidermal growth factor gene DOID:9008939 Breast Neoplasms ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16175315|PMID:21942447|PMID:23064031 11955372 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:0060074 ductal carcinoma in situ ISO RGD:69155 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:14744773|REF_RGD_ID:2290436 11955372 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:0080600 COVID-19 ISO RGD:69155 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11955372 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:1073 renal hypertension ISO RGD:69077 D RGD:9068941 20200609 RGD protein:increased expression:kidney medulla PMID:12923405|REF_RGD_ID:1302333 11955372 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:1380 endometrial cancer ISO RGD:69155 D RGD:9068941 20200609 RGD mRNA:decreased expression:endometrium PMID:15273280|REF_RGD_ID:2290435 11955372 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:2154 nephroblastoma ISO RGD:69155 D RGD:9068941 20200609 RGD PMID:11466614|REF_RGD_ID:2290439 11955372 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:69155 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:12798711|REF_RGD_ID:2290420 11955372 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:69155 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:17009974|REF_RGD_ID:2290414 11955372 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:4362 cervical cancer disease_progression ISO RGD:69155 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix PMID:15816637|REF_RGD_ID:2290434 11955372 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:4450 renal cell carcinoma ISO RGD:69155 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:11576837|REF_RGD_ID:2290421 11955372 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:6000 congestive heart failure ISO RGD:69077 D RGD:9068941 20200609 RGD protein:decreased expression:heart left ventricle PMID:10773234|REF_RGD_ID:2290467 11955372 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:630 genetic disease ISO RGD:69155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955372 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:7693 abdominal aortic aneurysm ISO RGD:69077 D RGD:9068941 20200609 RGD protein:decreased expression:aorta (rat) PMID:15238617|REF_RGD_ID:1302825 11955372 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:8634 prostate carcinoma in situ ISO RGD:69155 D RGD:9068941 20200609 RGD PMID:16940965|REF_RGD_ID:2290433 11955372 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:9000081 Lymphatic Metastasis ISO RGD:69155 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;mRNA:increased expression:breast PMID:12828172|REF_RGD_ID:2290437 11955372 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:9001600 Wounds and Injuries ISO RGD:69077 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:carotid artery PMID:10082471|REF_RGD_ID:2290470 11955372 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69155 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11955372 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69155 D RGD:9068941 20200609 RGD PMID:16940965|REF_RGD_ID:2290433 11955372 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:9002457 Experimental Arthritis ISO RGD:69077 D RGD:9068941 20200609 RGD PMID:12483743|REF_RGD_ID:2290463 11955372 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:9003936 Cardiomegaly ISO RGD:69077 D RGD:9068941 20200609 RGD PMID:10067796|REF_RGD_ID:2290471 11955372 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:9005605 Arteriovenous Fistula ISO RGD:69077 D RGD:9068941 20200609 RGD protein:decreased expression:ileal vein PMID:17398390|REF_RGD_ID:1642040 11955372 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:69077 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:12707244|REF_RGD_ID:2290461 11955372 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:9008939 Breast Neoplasms ISO RGD:69155 D RGD:9068941 20200609 RGD PMID:9190892|REF_RGD_ID:2290455 11955381 XKR9 XK related 9 gene DOID:630 genetic disease ISO RGD:1604439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955403 EFCAB9 EF-hand calcium binding domain 9 gene DOID:630 genetic disease ISO RGD:2301263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955411 CPLX4 complexin 4 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1316951 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 11955411 CPLX4 complexin 4 gene DOID:0111988 immunodeficiency 12 ISO RGD:1316951 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 11955411 CPLX4 complexin 4 gene DOID:630 genetic disease ISO RGD:1316951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955419 NME7 NME/NM23 family member 7 gene DOID:0080600 COVID-19 ISO RGD:733959 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11955419 NME7 NME/NM23 family member 7 gene DOID:10908 hydrocephalus ISO RGD:733960 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 11955419 NME7 NME/NM23 family member 7 gene DOID:1540 parathyroid carcinoma ISO RGD:733959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11955419 NME7 NME/NM23 family member 7 gene DOID:303 substance-related disorder ISO RGD:733959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11955419 NME7 NME/NM23 family member 7 gene DOID:630 genetic disease ISO RGD:733959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955419 NME7 NME/NM23 family member 7 gene DOID:758 situs inversus susceptibility ISO RGD:733960 D RGD:9068941 20221027 RGD PMID:20080492|REF_RGD_ID:155630601 11955419 NME7 NME/NM23 family member 7 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:733959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 11955419 NME7 NME/NM23 family member 7 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:733959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 11955419 NME7 NME/NM23 family member 7 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11955435 CRY2 cryptochrome circadian regulator 2 gene DOID:0050444 infantile Refsum disease ISO RGD:732507 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 11955435 CRY2 cryptochrome circadian regulator 2 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:732507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11955435 CRY2 cryptochrome circadian regulator 2 gene DOID:1059 intellectual disability ISO RGD:732507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11955435 CRY2 cryptochrome circadian regulator 2 gene DOID:630 genetic disease ISO RGD:732507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955435 CRY2 cryptochrome circadian regulator 2 gene DOID:8552 chronic myeloid leukemia ISO RGD:732507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16999817 11955435 CRY2 cryptochrome circadian regulator 2 gene DOID:905 Zellweger syndrome ISO RGD:732507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 11955451 CT62 cancer/testis associated 62 gene DOID:2717 Bloom syndrome ISO RGD:2312706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11955451 CT62 cancer/testis associated 62 gene DOID:9256 colorectal cancer ISO RGD:2312706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11955459 TSPO2 translocator protein 2 gene DOID:630 genetic disease ISO RGD:1606125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955477 SLC26A8 solute carrier family 26 member 8 gene DOID:0050553 JMP syndrome ISO RGD:1347727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11955477 SLC26A8 solute carrier family 26 member 8 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1347727 D RGD:7240710 20180130 OMIM 11955477 SLC26A8 solute carrier family 26 member 8 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1347727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 3 PMID:23582645|PMID:25741868|PMID:28492532|PMID:34923715 11955477 SLC26A8 solute carrier family 26 member 8 gene DOID:5419 schizophrenia ISO RGD:1347727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 11955477 SLC26A8 solute carrier family 26 member 8 gene DOID:630 genetic disease ISO RGD:1347727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955510 SYNRG synergin gamma gene DOID:0060041 autism spectrum disorder ISO RGD:1348030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 11955510 SYNRG synergin gamma gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1348030 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 11955510 SYNRG synergin gamma gene DOID:12849 autistic disorder ISO RGD:1348030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11955510 SYNRG synergin gamma gene DOID:5419 schizophrenia ISO RGD:1348030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11955510 SYNRG synergin gamma gene DOID:630 genetic disease ISO RGD:1348030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955510 SYNRG synergin gamma gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348030 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11955510 SYNRG synergin gamma gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11955510 SYNRG synergin gamma gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:1348030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 11955547 ARMS2 age-related maculopathy susceptibility 2 gene DOID:0110020 age related macular degeneration 8 ISO RGD:1606093 D RGD:7240710 20190315 OMIM 11955547 ARMS2 age-related maculopathy susceptibility 2 gene DOID:0110020 age related macular degeneration 8 ISO RGD:1606093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 8 PMID:16174643|PMID:16642439|PMID:16936732|PMID:17884985|PMID:19259132|PMID:21670343|PMID:22491416|PMID:23455636 11955547 ARMS2 age-related maculopathy susceptibility 2 gene DOID:0111036 CADASIL2 ISO RGD:1606093 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 PMID:25741868 11955547 ARMS2 age-related maculopathy susceptibility 2 gene DOID:2340 craniosynostosis ISO RGD:1606093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 11955547 ARMS2 age-related maculopathy susceptibility 2 gene DOID:4448 macular degeneration ISO RGD:1606093 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:18316707|PMID:20437615|PMID:22491416|PMID:26467025|PMID:28492532 11955547 ARMS2 age-related maculopathy susceptibility 2 gene DOID:630 genetic disease ISO RGD:1606093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955547 ARMS2 age-related maculopathy susceptibility 2 gene DOID:9001147 Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy ISO RGD:1606093 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: CARASIL syndrome PMID:18316707|PMID:20437615|PMID:26467025|PMID:28492532 11955553 RNF13 ring finger protein 13 gene DOID:0050579 glycogen storage disease XV ISO RGD:1351392 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 11955553 RNF13 ring finger protein 13 gene DOID:0112209 developmental and epileptic encephalopathy 73 ISO RGD:1351392 D RGD:7240710 20190417 OMIM 11955553 RNF13 ring finger protein 13 gene DOID:0112209 developmental and epileptic encephalopathy 73 ISO RGD:1351392 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 73 PMID:25741868|PMID:28492532|PMID:30595371 11955553 RNF13 ring finger protein 13 gene DOID:630 genetic disease ISO RGD:1351392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11955572 COG6 component of oligomeric golgi complex 6 gene DOID:0070264 congenital disorder of glycosylation type IIl ISO RGD:1346233 D RGD:7240710 20180130 OMIM 11955572 COG6 component of oligomeric golgi complex 6 gene DOID:0070264 congenital disorder of glycosylation type IIl ISO RGD:1346233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COG6-CGD PMID:16199547|PMID:17576681|PMID:20605848|PMID:23430903|PMID:23606727|PMID:24033266|PMID:24667118|PMID:24667119|PMID:25558065|PMID:25741868|PMID:26260076|PMID:26937396|PMID:28492532|PMID:30426380|PMID:9536098 11955572 COG6 component of oligomeric golgi complex 6 gene DOID:1059 intellectual disability ISO RGD:1346233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:23606727|PMID:25558065|PMID:25741868 11955572 COG6 component of oligomeric golgi complex 6 gene DOID:11155 hypohidrosis ISO RGD:1346233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypohidrosis PMID:23606727|PMID:25558065|PMID:25741868 11955572 COG6 component of oligomeric golgi complex 6 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1346233 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:24033266|PMID:25741868|PMID:28492532 11955572 COG6 component of oligomeric golgi complex 6 gene DOID:630 genetic disease ISO RGD:1346233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11955572 COG6 component of oligomeric golgi complex 6 gene DOID:9001463 Shaheen Syndrome ISO RGD:1346233 D RGD:7240710 20180130 OMIM 11955572 COG6 component of oligomeric golgi complex 6 gene DOID:9001463 Shaheen Syndrome ISO RGD:1346233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Shaheen syndrome PMID:16199547|PMID:17576681|PMID:23606727|PMID:24033266|PMID:25558065|PMID:25741868|PMID:26260076|PMID:26937396|PMID:28492532|PMID:30426380|PMID:9536098 11955595 CHST7 carbohydrate sulfotransferase 7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11955595 CHST7 carbohydrate sulfotransferase 7 gene DOID:12849 autistic disorder ISO RGD:1344494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11955595 CHST7 carbohydrate sulfotransferase 7 gene DOID:630 genetic disease ISO RGD:1344494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955595 CHST7 carbohydrate sulfotransferase 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11955595 CHST7 carbohydrate sulfotransferase 7 gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1344494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25972376 11955605 E2F3 E2F transcription factor 3 gene DOID:10283 prostate cancer ISO RGD:1320122 D RGD:9068941 20200609 RGD PMID:17701752|PMID:25017995|REF_RGD_ID:13504717|REF_RGD_ID:13504729 11955605 E2F3 E2F transcription factor 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:1320122 D RGD:9068941 20200609 RGD PMID:15184867|REF_RGD_ID:13504730 11955605 E2F3 E2F transcription factor 3 gene DOID:3070 high grade glioma disease_progression ISO RGD:1320122 D RGD:9068941 20200609 RGD PMID:28337965|REF_RGD_ID:13702470 11955605 E2F3 E2F transcription factor 3 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1320122 D RGD:9068941 20200609 RGD PMID:16938365|REF_RGD_ID:13464341 11955605 E2F3 E2F transcription factor 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1320122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 11955605 E2F3 E2F transcription factor 3 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1320122 D RGD:9068941 20200609 RGD DNA:SNP: :rs3806116 (human) PMID:27557513|REF_RGD_ID:13464345 11955605 E2F3 E2F transcription factor 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1320122 D RGD:9068941 20200609 RGD PMID:16938365|REF_RGD_ID:13464341 11955605 E2F3 E2F transcription factor 3 gene DOID:630 genetic disease ISO RGD:1320122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:1312254 D RGD:9068941 20210917 RGD PMID:29945346|REF_RGD_ID:150429700 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:0080027 spondyloepimetaphyseal dysplasia ISO RGD:1312254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1312254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type ISO RGD:1312254 D RGD:7240710 20180130 OMIM 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type ISO RGD:1312254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome PMID:19110212|PMID:20223752|PMID:25741868|PMID:28492532|PMID:29904280|PMID:8434618|PMID:8818447 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:10534 stomach cancer ameliorates ISO RGD:1312254 D RGD:9068941 20210917 RGD PMID:26934957|REF_RGD_ID:150429705 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:10534 stomach cancer disease_progression ISO RGD:1312254 D RGD:9068941 20210917 RGD PMID:26934957|REF_RGD_ID:150429705 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:10534 stomach cancer exacerbates ISO RGD:1312254 D RGD:9068941 20210917 RGD PMID:27010547|REF_RGD_ID:150429704 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:10534 stomach cancer severity ISO RGD:1312254 D RGD:9068941 20210917 RGD PMID:27010547|REF_RGD_ID:150429704 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:14018 alcoholic liver cirrhosis ameliorates ISO RGD:619855 D RGD:9068941 20211015 RGD PMID:23409069|REF_RGD_ID:150517731 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:14018 alcoholic liver cirrhosis disease_progression ISO RGD:619855 D RGD:9068941 20211001 RGD PMID:21199726|REF_RGD_ID:150429766 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:14330 Parkinson's disease treatment ISO RGD:1312255 D RGD:9068941 20220121 RGD PMID:28863860|REF_RGD_ID:150519888 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1312254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1312254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:18938156|PMID:22328973|PMID:23932362 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:1909 melanoma ameliorates ISO RGD:1312255 D RGD:9068941 20210924 RGD DNA:deletion:exons: PMID:24293323|REF_RGD_ID:150429711 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:3355 fibrosarcoma ameliorates ISO RGD:1312255 D RGD:9068941 20210924 RGD DNA:deletion:exons: PMID:24293323|REF_RGD_ID:150429711 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:3500 gallbladder adenocarcinoma disease_progression ISO RGD:1312254 D RGD:9068941 20210924 RGD PMID:29043607|REF_RGD_ID:150429712 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1312254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:22328973|PMID:25741868|PMID:28492532 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:3907 lung squamous cell carcinoma severity ISO RGD:1312254 D RGD:9068941 20210917 RGD PMID:24885564|REF_RGD_ID:150429702 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1312254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:18938156|PMID:22328973|PMID:23932362|PMID:28492532 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1312254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:5520 head and neck squamous cell carcinoma severity ISO RGD:1312254 D RGD:9068941 20210924 RGD PMID:24556606|REF_RGD_ID:150429746 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:5627 adenosquamous gallbladder carcinoma disease_progression ISO RGD:1312254 D RGD:9068941 20210924 RGD PMID:29043607|REF_RGD_ID:150429712 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:630 genetic disease ISO RGD:1312254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:65 connective tissue disease ISO RGD:1312254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1312254 D RGD:9068941 20210924 RGD PMID:26362312|REF_RGD_ID:11086753 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1312254 D RGD:9068941 20210924 RGD PMID:33969575|REF_RGD_ID:150429748 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:686 liver carcinoma ameliorates ISO RGD:1312255 D RGD:9068941 20210924 RGD DNA:deletion:exons: PMID:24293323|REF_RGD_ID:150429711 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:8398 osteoarthritis disease_progression ISO RGD:1312254 D RGD:9068941 20211008 RGD PMID:24938620|REF_RGD_ID:150429973 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1312254 D RGD:9068941 20210917 RGD associated with oral squamous cell carcinoma PMID:29945346|REF_RGD_ID:150429700 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:9000662 Warburg-Cinotti Syndrome ISO RGD:1312254 D RGD:7240710 20200226 OMIM 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:9000662 Warburg-Cinotti Syndrome ISO RGD:1312254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Warburg-cinotti syndrome PMID:17103436|PMID:23637089|PMID:25741868|PMID:28492532|PMID:30449416 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:1312255 D RGD:9068941 20210924 RGD associated with melanoma; PMID:24293323|REF_RGD_ID:150429711 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1312254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29216386 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:9002331 Knee Osteoarthritis ameliorates ISO RGD:619855 D RGD:9068941 20211015 RGD PMID:31258642|REF_RGD_ID:150519887 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:9002457 Experimental Arthritis ameliorates ISO RGD:1312255 D RGD:9068941 20211015 RGD PMID:24819400|REF_RGD_ID:150519886 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:9004332 Osteoarthritis, Experimental treatment ISO RGD:619855 D RGD:9068941 20211008 RGD PMID:25975052|REF_RGD_ID:150429975 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:9006618 Liver Metastasis ameliorates ISO RGD:1312254 D RGD:9068941 20210924 RGD associated with melanoma; PMID:21701781|REF_RGD_ID:150429713 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:9006618 Liver Metastasis ameliorates ISO RGD:1312255 D RGD:9068941 20210917 RGD associated with colon carcinoma PMID:22071959|REF_RGD_ID:150429701 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:9009121 lung metastasis exacerbates ISO RGD:1312254 D RGD:9068941 20210924 RGD associated with tongue squamous cell carcinoma; PMID:24556606|REF_RGD_ID:150429746 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1312254 D RGD:9068941 20210917 RGD PMID:28476831|REF_RGD_ID:150429706 11955624 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:9261 nasopharynx carcinoma ISO RGD:1312254 D RGD:9068941 20210924 RGD mRNA:increased expression:epithelium of nasopharynx PMID:18023033|REF_RGD_ID:150429715 11955646 INTS10 integrator complex subunit 10 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1602701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 11955646 INTS10 integrator complex subunit 10 gene DOID:630 genetic disease ISO RGD:1602701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955676 CCDC15 coiled-coil domain containing 15 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1605034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11955676 CCDC15 coiled-coil domain containing 15 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1605034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11955676 CCDC15 coiled-coil domain containing 15 gene DOID:5419 schizophrenia ISO RGD:1605034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11955676 CCDC15 coiled-coil domain containing 15 gene DOID:630 genetic disease ISO RGD:1605034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955676 CCDC15 coiled-coil domain containing 15 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11955676 CCDC15 coiled-coil domain containing 15 gene DOID:9007661 Dwarfism ISO RGD:1605034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11955697 C3AR1 complement C3a receptor 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1353843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11955697 C3AR1 complement C3a receptor 1 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 11955697 C3AR1 complement C3a receptor 1 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1353843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11955697 C3AR1 complement C3a receptor 1 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1353843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11955697 C3AR1 complement C3a receptor 1 gene DOID:0080600 COVID-19 ISO RGD:1353843 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11955697 C3AR1 complement C3a receptor 1 gene DOID:0080600 COVID-19 ISO RGD:1353843 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11955697 C3AR1 complement C3a receptor 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1353843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11955697 C3AR1 complement C3a receptor 1 gene DOID:0111621 Temtamy syndrome ISO RGD:1353843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11955697 C3AR1 complement C3a receptor 1 gene DOID:10283 prostate cancer ISO RGD:1353843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11955697 C3AR1 complement C3a receptor 1 gene DOID:11394 adult respiratory distress syndrome treatment ISO RGD:620537 D RGD:9068941 20200609 RGD PMID:16782534|REF_RGD_ID:2303017 11955697 C3AR1 complement C3a receptor 1 gene DOID:2841 asthma ISO RGD:620537 D RGD:9068941 20200609 RGD protein:increased expression:lung, leukocyte PMID:17544263|REF_RGD_ID:5129560 11955697 C3AR1 complement C3a receptor 1 gene DOID:2841 asthma ISO RGD:731620 D RGD:9068941 20200609 RGD PMID:20802484|REF_RGD_ID:5129681 11955697 C3AR1 complement C3a receptor 1 gene DOID:2841 asthma ISO RGD:731620 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:20045013|REF_RGD_ID:5129686 11955697 C3AR1 complement C3a receptor 1 gene DOID:2841 asthma ISO RGD:731620 D RGD:9068941 20200609 RGD protein:increased expression:lung, leukocyte PMID:17544263|REF_RGD_ID:5129560 11955697 C3AR1 complement C3a receptor 1 gene DOID:2841 asthma severity ISO RGD:1353843 D RGD:9068941 20200609 RGD PMID:15278436|PMID:15940127|REF_RGD_ID:5129512|REF_RGD_ID:5129561 11955697 C3AR1 complement C3a receptor 1 gene DOID:4483 rhinitis severity ISO RGD:1353843 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity PMID:18538384|REF_RGD_ID:5129559 11955697 C3AR1 complement C3a receptor 1 gene DOID:552 pneumonia ISO RGD:731620 D RGD:9068941 20200609 RGD associated with Respiratory Syncytial Virus Infections PMID:17079327|REF_RGD_ID:5129688 11955697 C3AR1 complement C3a receptor 1 gene DOID:630 genetic disease ISO RGD:1353843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955697 C3AR1 complement C3a receptor 1 gene DOID:850 lung disease ISO RGD:620537 D RGD:9068941 20200609 RGD Acute Lung Injury;protein:increased expression:lung, leukocyte PMID:17544263|REF_RGD_ID:5129560 11955697 C3AR1 complement C3a receptor 1 gene DOID:850 lung disease ISO RGD:731620 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:21421909|REF_RGD_ID:5129564 11955697 C3AR1 complement C3a receptor 1 gene DOID:850 lung disease ISO RGD:731620 D RGD:9068941 20200609 RGD Acute Lung Injury;protein:increased expression:lung, leukocyte PMID:17544263|REF_RGD_ID:5129560 11955697 C3AR1 complement C3a receptor 1 gene DOID:874 bacterial pneumonia ISO RGD:731620 D RGD:9068941 20200609 RGD PMID:16461429|REF_RGD_ID:5129690 11955697 C3AR1 complement C3a receptor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:620537 D RGD:9068941 20200609 RGD PMID:15159277|REF_RGD_ID:5129702 11955697 C3AR1 complement C3a receptor 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1353843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11955697 C3AR1 complement C3a receptor 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:731620 D RGD:9068941 20200609 RGD protein:increased expression:lung, leukocyte PMID:17544263|REF_RGD_ID:5129560 11955703 FAM20C FAM20C golgi associated secretory pathway kinase gene DOID:0050445 X-linked dominant hypophosphatemic rickets ISO RGD:1323719 D RGD:9068941 20200609 RGD mRNA:increased expression:long bone, osteoblast, osteocyte (mouse) PMID:24710520|REF_RGD_ID:11560488 11955703 FAM20C FAM20C golgi associated secretory pathway kinase gene DOID:0080600 COVID-19 ISO RGD:1323719 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11955703 FAM20C FAM20C golgi associated secretory pathway kinase gene DOID:10609 rickets ISO RGD:1323720 D RGD:9068941 20220825 MouseDO OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785 11955703 FAM20C FAM20C golgi associated secretory pathway kinase gene DOID:2187 amelogenesis imperfecta ISO RGD:12432310 D RGD:9068941 20210604 OMIA Dental hypomineralization PMID:27187611|PMID:27803843 11955703 FAM20C FAM20C golgi associated secretory pathway kinase gene DOID:2187 amelogenesis imperfecta ISO RGD:1323719 D RGD:9068941 20200609 RGD DNA:snp, missense mutation:cds:c.1487C>T, p.P496L (human) PMID:25928877|REF_RGD_ID:11560491 11955703 FAM20C FAM20C golgi associated secretory pathway kinase gene DOID:2187 amelogenesis imperfecta ISO RGD:1323720 D RGD:9068941 20200609 RGD PMID:22732358|REF_RGD_ID:11560487 11955703 FAM20C FAM20C golgi associated secretory pathway kinase gene DOID:630 genetic disease ISO RGD:1323719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11955703 FAM20C FAM20C golgi associated secretory pathway kinase gene DOID:9000666 Raine Syndrome ISO RGD:1323719 D RGD:7240710 20180130 OMIM 11955703 FAM20C FAM20C golgi associated secretory pathway kinase gene DOID:9000666 Raine Syndrome ISO RGD:1323719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia PMID:12868469|PMID:14564151|PMID:17924334|PMID:19250384|PMID:2020859|PMID:20825432|PMID:24033266|PMID:25026495|PMID:25741868|PMID:27862258|PMID:28492532|PMID:32337609 11955703 FAM20C FAM20C golgi associated secretory pathway kinase gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:1323720 D RGD:9068941 20200609 RGD PMID:22615579|REF_RGD_ID:11558021 11955703 FAM20C FAM20C golgi associated secretory pathway kinase gene DOID:9004003 Tooth Demineralization ISO RGD:1323719 D RGD:9068941 20200609 RGD associated with Rickets, Hypophosphatemic;DNA:snps, missense mutation, nonsense mutation:multiple (human) PMID:23325605|REF_RGD_ID:11558022 11955703 FAM20C FAM20C golgi associated secretory pathway kinase gene DOID:9008539 Perinatal Death ISO RGD:1323719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal death PMID:25558065 11955716 TENM1 teneurin transmembrane protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11955716 TENM1 teneurin transmembrane protein 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1350445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 11955716 TENM1 teneurin transmembrane protein 1 gene DOID:12849 autistic disorder ISO RGD:1350445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11955716 TENM1 teneurin transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:1350445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955716 TENM1 teneurin transmembrane protein 1 gene DOID:9003937 X Chromosome, Trisomy Xq25 ISO RGD:1350445 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Xq25 duplication syndrome 11955763 NCBP2 nuclear cap binding protein subunit 2 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1313360 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 11955763 NCBP2 nuclear cap binding protein subunit 2 gene DOID:12849 autistic disorder ISO RGD:1313360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11955763 NCBP2 nuclear cap binding protein subunit 2 gene DOID:5419 schizophrenia ISO RGD:1313360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11955763 NCBP2 nuclear cap binding protein subunit 2 gene DOID:630 genetic disease ISO RGD:1313360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:0050160 inhalation anthrax disease_progression ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:21124994|REF_RGD_ID:5135283 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:28824718|REF_RGD_ID:27095887 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1352024 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver,serum PMID:25048951|REF_RGD_ID:27095890 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:0080547 non-alcoholic steatohepatitis severity ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:25048951|REF_RGD_ID:27095890 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:0080599 Coronavirus infectious disease ISO RGD:1550709 D RGD:9068941 20200618 RGD PMID:19626487|PMID:19906920|REF_RGD_ID:27095957|REF_RGD_ID:4891446 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:0080600 COVID-19 ISO RGD:1352024 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:0080600 COVID-19 ISO RGD:1352024 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:0080600 COVID-19 ISO RGD:1352024 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:0080600 COVID-19 ISO RGD:1352024 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:31986264 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:0080600 COVID-19 severity ISO RGD:1352024 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|PMID:32360286|REF_RGD_ID:30309209|REF_RGD_ID:30309212 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:0080600 COVID-19 severity ISO RGD:1352024 D RGD:9068941 20230302 RGD PMID:32427582|REF_RGD_ID:30309200 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:1550709 D RGD:9068941 20200618 RGD PMID:30626685|REF_RGD_ID:30309198 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:0081267 graft-versus-host disease ISO RGD:1550709 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:intestine, liver, lung PMID:19218194|REF_RGD_ID:5135435 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:0081292 traumatic brain injury treatment ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:26435412|REF_RGD_ID:27095897 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:10247 pleurisy ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:14527170|REF_RGD_ID:5135449 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:10459 common cold ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:15764644|REF_RGD_ID:5135489 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:10533 viral pneumonia ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:17655904|REF_RGD_ID:5135437 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:10608 celiac disease ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:11394 adult respiratory distress syndrome ISO RGD:620209 D RGD:9068941 20200609 RGD PMID:9288136|REF_RGD_ID:2311389 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:12236 primary biliary cholangitis ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18422935 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:18624292|REF_RGD_ID:5135483 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:1287 cardiovascular system disease ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29114965 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:13141 uveitis ISO RGD:620209 D RGD:9068941 20200609 RGD PMID:16505038|REF_RGD_ID:2311384 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:9834133|REF_RGD_ID:5135492 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:17550373|REF_RGD_ID:5135438 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:13580 cholestasis ISO RGD:1352024 D RGD:9068941 20200609 RGD associated with Chronic Hepatitis C; protein:increased expression:serum: PMID:30507970|REF_RGD_ID:27095896 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:13949 interstitial cystitis ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18957084 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:14004 thoracic aortic aneurysm severity ISO RGD:1352024 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:16014397|REF_RGD_ID:5135442 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:14095 boutonneuse fever ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:14507644|REF_RGD_ID:5135450 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:1520 colon carcinoma treatment ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:30381616|REF_RGD_ID:27095891 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:1591 renovascular hypertension ISO RGD:620209 D RGD:9068941 20200609 RGD PMID:17062848|REF_RGD_ID:2311383 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:1883 hepatitis C ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18775023|REF_RGD_ID:27095893 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:1883 hepatitis C disease_progression ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:24668726|REF_RGD_ID:27095945 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:1883 hepatitis C treatment ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:25512630|REF_RGD_ID:27095943 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2043 hepatitis B disease_progression ISO RGD:1352024 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-201G>A(human) PMID:18325387|REF_RGD_ID:27095959 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2316 brain ischemia ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2316 brain ischemia ISO RGD:620209 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:17549754|REF_RGD_ID:2311381 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2799 bronchiolitis obliterans ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:12097412|REF_RGD_ID:5135451 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2799 bronchiolitis obliterans ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:12097412|PMID:16709871|REF_RGD_ID:5135441|REF_RGD_ID:5135451 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2841 asthma ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16602032|PMID:17302903|REF_RGD_ID:5135439|REF_RGD_ID:5135457 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2841 asthma ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:11994485|REF_RGD_ID:5135452 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2917 cryoglobulinemia ISO RGD:1352024 D RGD:9068941 20200609 RGD associated with hepatitis C; protein:increased expression:serum PMID:18775023|REF_RGD_ID:27095893 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17052299|REF_RGD_ID:5135440 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1352024 D RGD:9068941 20200702 RGD protein:increased expression:serum (human) PMID:15602737|REF_RGD_ID:32716399 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1550709 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1550709 D RGD:9068941 20200619 RGD mRNA, protein: increased expression, altered expression:lung (mouse) PMID:15356152|REF_RGD_ID:30309221 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1550709 D RGD:9068941 20200619 RGD protein:increased expression:lung (mouse) PMID:20231782|REF_RGD_ID:30309216 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1352024 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1352024 D RGD:9068941 20200619 RGD mRNA, protein:increased expression:plasma, lung (human) PMID:16195357|REF_RGD_ID:30309218 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1352024 D RGD:9068941 20200619 RGD mRNA, protein:increased expression:serum, lung (human) PMID:15657466|REF_RGD_ID:30309219 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1352024 D RGD:9068941 20200619 RGD protein:increased expression:lung (human) PMID:17129463|REF_RGD_ID:30309217 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1550709 D RGD:9068941 20200618 RGD mRNA:increased expression:lung (mouse) PMID:32365944|REF_RGD_ID:30309207 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1352024 D RGD:9068941 20200702 RGD PMID:15781938|PMID:15865221|REF_RGD_ID:30309220|REF_RGD_ID:33769580 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1550709 D RGD:9068941 20200702 RGD PMID:32553273|REF_RGD_ID:32716426 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2957 pulmonary tuberculosis treatment ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:29843631|REF_RGD_ID:27095956 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:3082 interstitial lung disease ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:alveolar macrophage PMID:19816001|REF_RGD_ID:5135305 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:3082 interstitial lung disease ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19565490|REF_RGD_ID:5135306 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:17925429|REF_RGD_ID:5135436 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:326 ischemia ISO RGD:1550709 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:16709871|REF_RGD_ID:5135441 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:3310 atopic dermatitis ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:3454 brain infarction ISO RGD:620209 D RGD:9068941 20230216 RGD protein:increased expression:brain (rat) PMID:19895873|REF_RGD_ID:2325193 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:3525 middle cerebral artery infarction ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:10825390|REF_RGD_ID:632989 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:418 systemic scleroderma ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:21049277|REF_RGD_ID:5135284 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:418 systemic scleroderma ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21303517|REF_RGD_ID:5135279 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:4247 coronary restenosis ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:14578618|REF_RGD_ID:1598500 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:437 myasthenia gravis ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:15843529|REF_RGD_ID:1598501 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:5082 liver cirrhosis ISO RGD:1352024 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11418676|REF_RGD_ID:27095892 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:29105936|REF_RGD_ID:27095953 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:5082 liver cirrhosis severity ISO RGD:1352024 D RGD:9068941 20200609 RGD associated with Chronic Hepatitis B; PMID:28067328|REF_RGD_ID:27095955 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:27246604|REF_RGD_ID:14995461 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:552 pneumonia ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:15265940|REF_RGD_ID:5135445 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:552 pneumonia ISO RGD:1550709 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;mRNA:increased expression:lung PMID:14979941|REF_RGD_ID:5135491 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:576 proteinuria ISO RGD:620209 D RGD:9068941 20200609 RGD PMID:16382022|REF_RGD_ID:2311386 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:630 genetic disease ISO RGD:1352024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:6713 cerebrovascular disease ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29114965 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:28592115|REF_RGD_ID:27095889 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:27245433|REF_RGD_ID:27095899 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:28638480|REF_RGD_ID:27095898 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:820 myocarditis ISO RGD:620209 D RGD:9068941 20200609 RGD PMID:15322218|REF_RGD_ID:1598502 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1352024 D RGD:9068941 20200609 RGD mRNA:increased expression:alveolar macrophage PMID:15725351|REF_RGD_ID:5135490 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:14991597|REF_RGD_ID:5135448 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:874 bacterial pneumonia ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:15618188|REF_RGD_ID:5135459 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:874 bacterial pneumonia severity ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:16299319|REF_RGD_ID:5135458 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1352024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:8947 diabetic retinopathy ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:17194635|REF_RGD_ID:2311361 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620209 D RGD:9068941 20200609 RGD PMID:19170890|REF_RGD_ID:2311365 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9000238 Acute-On-Chronic Liver Failure susceptibility ISO RGD:1352024 D RGD:9068941 20200609 RGD associated with liver cirrhosis; PMID:29105936|REF_RGD_ID:27095953 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9000998 Brain Injuries ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1352024 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9001488 Human Influenza ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:18041715|REF_RGD_ID:27095942 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1352024 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:19073786|REF_RGD_ID:2311357 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1352024 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:17425653|REF_RGD_ID:2311359 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1550709 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:21273392|REF_RGD_ID:5683877 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9002395 Hypothermia ISO RGD:620209 D RGD:9068941 20200609 RGD PMID:16469832|REF_RGD_ID:2311385 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9002928 Colonic Neoplasms ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9003281 Spontaneous Abortions ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9003617 Carrington Syndrome ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:15956791|REF_RGD_ID:5135443 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9004009 Reperfusion Injury ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:16709871|REF_RGD_ID:5135441 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9004009 Reperfusion Injury ISO RGD:1550709 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;protein:increased expression:lung PMID:19433855|REF_RGD_ID:5135307 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9004009 Reperfusion Injury ISO RGD:620209 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:18589091|REF_RGD_ID:2311376 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:31127759|REF_RGD_ID:27095949 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9004283 Transplant Rejection severity ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:28245475|REF_RGD_ID:27095950 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9004590 Acute Liver Failure treatment ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:23227188|REF_RGD_ID:27095895 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1550709 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreatic islet PMID:17372021|REF_RGD_ID:2311360 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:1352024 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:23593305|REF_RGD_ID:38508895 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9006618 Liver Metastasis treatment ISO RGD:1550709 D RGD:9068941 20200609 RGD associated with colon carcinoma; PMID:30381616|REF_RGD_ID:27095891 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20561238|REF_RGD_ID:5135493 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9006928 Viral Bronchiolitis ISO RGD:620209 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:12909590|REF_RGD_ID:2311388 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9007102 Myocardial Ischemia ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11739529 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1352024 D RGD:9068941 20200609 RGD mRNA,protein:increased expression: peripheral blood mononuclear cell,serum, sinusoidal endothelium PMID:18234638|REF_RGD_ID:27095951 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:30660173|REF_RGD_ID:27095888 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:620209 D RGD:9068941 20200609 RGD PMID:15843529|PMID:19232748|REF_RGD_ID:1598501|REF_RGD_ID:2311364 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9009049 Foot Ulcer ISO RGD:1352024 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:19509015|REF_RGD_ID:2311355 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9146 visceral leishmaniasis ISO RGD:1550709 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:16239557|REF_RGD_ID:27095947 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:19187771|REF_RGD_ID:2311356 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9452 fatty liver disease ISO RGD:1352024 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver,serum PMID:25048951|REF_RGD_ID:27095890 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9588 encephalitis ISO RGD:620209 D RGD:9068941 20200609 RGD PMID:18405324|REF_RGD_ID:2311377 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9675 pulmonary emphysema ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:lung, lymphocyte PMID:15526056|REF_RGD_ID:4892104 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19046227|REF_RGD_ID:2311358 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:16148094|REF_RGD_ID:2311363 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9744 type 1 diabetes mellitus ISO RGD:620209 D RGD:9068941 20200609 RGD PMID:16339582|REF_RGD_ID:2311362 11955774 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:986 alopecia areata ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22358057 11955782 SDR16C5 short chain dehydrogenase/reductase family 16C member 5 gene DOID:630 genetic disease ISO RGD:1604728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955798 BCL11A BCL11 transcription factor A gene DOID:0060041 autism spectrum disorder ISO RGD:1320527 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:25363760|REF_RGD_ID:11099981 11955798 BCL11A BCL11 transcription factor A gene DOID:0060135 apraxia ISO RGD:1320527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27120335 11955798 BCL11A BCL11 transcription factor A gene DOID:0070338 cerebellar hypoplasia ISO RGD:1320527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 11955798 BCL11A BCL11 transcription factor A gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1320527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11955798 BCL11A BCL11 transcription factor A gene DOID:0080236 autosomal dominant intellectual developmental disorder 45 ISO RGD:1320527 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 45 PMID:25741868 11955798 BCL11A BCL11 transcription factor A gene DOID:0080600 COVID-19 ISO RGD:1320527 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 11955798 BCL11A BCL11 transcription factor A gene DOID:1059 intellectual disability ISO RGD:1320527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11955798 BCL11A BCL11 transcription factor A gene DOID:10923 sickle cell anemia severity ISO RGD:1320527 D RGD:9068941 20200609 RGD DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human) PMID:18667698|REF_RGD_ID:11099970 11955798 BCL11A BCL11 transcription factor A gene DOID:10923 sickle cell anemia severity ISO RGD:1320528 D RGD:9068941 20200609 RGD PMID:21998251|REF_RGD_ID:11099996 11955798 BCL11A BCL11 transcription factor A gene DOID:10923 sickle cell anemia treatment ISO RGD:1320527 D RGD:9068941 20200609 RGD PMID:22360576|REF_RGD_ID:11100007 11955798 BCL11A BCL11 transcription factor A gene DOID:11612 polycystic ovary syndrome ISO RGD:1320527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11955798 BCL11A BCL11 transcription factor A gene DOID:12241 beta thalassemia ISO RGD:1320527 D RGD:9068941 20200609 RGD DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human) PMID:22258351|REF_RGD_ID:11100005 11955798 BCL11A BCL11 transcription factor A gene DOID:12241 beta thalassemia severity ISO RGD:1320527 D RGD:9068941 20200609 RGD DNA:snp:intron:c.386-17267T>C (rs10189857) (human) PMID:25751242|REF_RGD_ID:11100008 11955798 BCL11A BCL11 transcription factor A gene DOID:12241 beta thalassemia severity ISO RGD:1320527 D RGD:9068941 20200609 RGD DNA:snps:intron:c. 386-24002G>T, c.386-24278G>A (rs766432, rs11886868) (human) PMID:23541515|REF_RGD_ID:11099969 11955798 BCL11A BCL11 transcription factor A gene DOID:12241 beta thalassemia treatment ISO RGD:1320527 D RGD:9068941 20200609 RGD PMID:25574177|REF_RGD_ID:11100011 11955798 BCL11A BCL11 transcription factor A gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1320527 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (human) PMID:23758992|REF_RGD_ID:11099968 11955798 BCL11A BCL11 transcription factor A gene DOID:5419 schizophrenia ISO RGD:1320527 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:25938782|REF_RGD_ID:11099977 11955798 BCL11A BCL11 transcription factor A gene DOID:630 genetic disease ISO RGD:1320527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12196208|PMID:25741868|PMID:29985992 11955798 BCL11A BCL11 transcription factor A gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1320527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:31474318 11955798 BCL11A BCL11 transcription factor A gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1320527 D RGD:9068941 20200609 RGD DNA:translocation:5' utr: (human) PMID:11719382|REF_RGD_ID:11100004 11955798 BCL11A BCL11 transcription factor A gene DOID:9003071 Postaxial Polydactyly ISO RGD:1320527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Postaxial polydactyly PMID:25741868 11955798 BCL11A BCL11 transcription factor A gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1320527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11955798 BCL11A BCL11 transcription factor A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 11955798 BCL11A BCL11 transcription factor A gene DOID:9005466 Language Development Disorders ISO RGD:1320527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27120335 11955798 BCL11A BCL11 transcription factor A gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1320527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11955798 BCL11A BCL11 transcription factor A gene DOID:9006994 INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN ISO RGD:1320527 D RGD:7240710 20190315 OMIM 11955798 BCL11A BCL11 transcription factor A gene DOID:9006994 INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN ISO RGD:1320527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN | ClinVar Annotator: match by term: Intellectual developmental disorder with persistence of fetal hemoglobin PMID:25741868|PMID:27453576|PMID:28891213|PMID:31474318|PMID:33116287 11955798 BCL11A BCL11 transcription factor A gene DOID:9008086 Developmental Disabilities ISO RGD:1320527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741869 11955798 BCL11A BCL11 transcription factor A gene DOID:9008582 Developmental Disease ISO RGD:1320527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11955822 LOC100995839 cystatin-8 gene DOID:12336 male infertility ISO RGD:736077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20811015 11955822 LOC100995839 cystatin-8 gene DOID:630 genetic disease ISO RGD:736077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955886 TRAPPC3L trafficking protein particle complex subunit 3L gene DOID:0060163 body dysmorphic disorder ISO RGD:1342888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 11955886 TRAPPC3L trafficking protein particle complex subunit 3L gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1342888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 11955886 TRAPPC3L trafficking protein particle complex subunit 3L gene DOID:1059 intellectual disability ISO RGD:1342888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24824130 11955886 TRAPPC3L trafficking protein particle complex subunit 3L gene DOID:10907 microcephaly ISO RGD:1342888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 11955886 TRAPPC3L trafficking protein particle complex subunit 3L gene DOID:1826 epilepsy ISO RGD:1342888 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11955886 TRAPPC3L trafficking protein particle complex subunit 3L gene DOID:630 genetic disease ISO RGD:1342888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955886 TRAPPC3L trafficking protein particle complex subunit 3L gene DOID:9000495 Tremor ISO RGD:1342888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 11955895 KLK4 kallikrein related peptidase 4 gene DOID:0110057 amelogenesis imperfecta type 2A1 ISO RGD:1353266 D RGD:7240710 20180130 OMIM 11955895 KLK4 kallikrein related peptidase 4 gene DOID:0110057 amelogenesis imperfecta type 2A1 ISO RGD:1353266 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 2A1 PMID:15235027|PMID:204700|PMID:21597265|PMID:23355523|PMID:25741868|PMID:28611678 11955895 KLK4 kallikrein related peptidase 4 gene DOID:10283 prostate cancer ISO RGD:1353266 D RGD:9068941 20200609 RGD PMID:12370833|REF_RGD_ID:2314857 11955895 KLK4 kallikrein related peptidase 4 gene DOID:10283 prostate cancer ISO RGD:1353266 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:17545602|REF_RGD_ID:2314854 11955895 KLK4 kallikrein related peptidase 4 gene DOID:12336 male infertility ISO RGD:1353266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 11955895 KLK4 kallikrein related peptidase 4 gene DOID:1612 breast cancer disease_progression ISO RGD:1353266 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:breast PMID:18687310|REF_RGD_ID:2314853 11955895 KLK4 kallikrein related peptidase 4 gene DOID:1612 breast cancer severity ISO RGD:1353266 D RGD:9068941 20200609 RGD PMID:19190825|REF_RGD_ID:2314852 11955895 KLK4 kallikrein related peptidase 4 gene DOID:2187 amelogenesis imperfecta ISO RGD:1353266 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta 11955895 KLK4 kallikrein related peptidase 4 gene DOID:2394 ovarian cancer severity ISO RGD:1353266 D RGD:9068941 20200609 RGD PMID:15262123|REF_RGD_ID:2314856 11955895 KLK4 kallikrein related peptidase 4 gene DOID:630 genetic disease ISO RGD:1353266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955904 HDAC4 histone deacetylase 4 gene DOID:0050581 brachydactyly ISO RGD:1316832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20691407 11955904 HDAC4 histone deacetylase 4 gene DOID:0050888 syndromic intellectual disability ISO RGD:1316832 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 11955904 HDAC4 histone deacetylase 4 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1316832 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 11955904 HDAC4 histone deacetylase 4 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1316832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11955904 HDAC4 histone deacetylase 4 gene DOID:0110972 brachydactyly type E1 ISO RGD:1316832 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Brachydactyly syndrome type E PMID:25741868|PMID:33537682 11955904 HDAC4 histone deacetylase 4 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1316832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11955904 HDAC4 histone deacetylase 4 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1316832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 11955904 HDAC4 histone deacetylase 4 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1316832 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:20691407|PMID:23188045|PMID:24715439|PMID:25741868|PMID:28492532|PMID:33537682 11955904 HDAC4 histone deacetylase 4 gene DOID:1059 intellectual disability ISO RGD:1316832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:28492532|PMID:33537682 11955904 HDAC4 histone deacetylase 4 gene DOID:10907 microcephaly ISO RGD:1316832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11955904 HDAC4 histone deacetylase 4 gene DOID:11054 urinary bladder cancer ISO RGD:1316832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21507255 11955904 HDAC4 histone deacetylase 4 gene DOID:11832 visual epilepsy ISO RGD:1550759 D RGD:9068941 20200609 RGD PMID:19672313|REF_RGD_ID:9681457 11955904 HDAC4 histone deacetylase 4 gene DOID:12377 spinal muscular atrophy ISO RGD:1550759 D RGD:9068941 20200609 RGD mRNA:increased expression:muscle: PMID:22798624|REF_RGD_ID:9681458 11955904 HDAC4 histone deacetylase 4 gene DOID:12704 ataxia telangiectasia ISO RGD:1316832 D RGD:9068941 20200609 RGD protein:altered localization:nucleus: PMID:22466704|REF_RGD_ID:9681455 11955904 HDAC4 histone deacetylase 4 gene DOID:12704 ataxia telangiectasia ISO RGD:1550759 D RGD:9068941 20200609 RGD protein:altered localization:nucleus: PMID:22466704|REF_RGD_ID:9681455 11955904 HDAC4 histone deacetylase 4 gene DOID:12704 ataxia telangiectasia treatment ISO RGD:1316832 D RGD:9068941 20200609 RGD PMID:22466704|REF_RGD_ID:9681455 11955904 HDAC4 histone deacetylase 4 gene DOID:14557 primary pulmonary hypertension ISO RGD:1316832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22711276 11955904 HDAC4 histone deacetylase 4 gene DOID:1790 malignant mesothelioma ISO RGD:1316832 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 11955904 HDAC4 histone deacetylase 4 gene DOID:1875 impotence ISO RGD:1316832 D RGD:9068941 20200609 RGD protein:increased expression:penis: PMID:24636283|REF_RGD_ID:9590194 11955904 HDAC4 histone deacetylase 4 gene DOID:1936 atherosclerosis ameliorates ISO RGD:1550759 D RGD:9068941 20230330 RGD PMID:35854140|REF_RGD_ID:242905195 11955904 HDAC4 histone deacetylase 4 gene DOID:2773 contact dermatitis ISO RGD:1316832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11955904 HDAC4 histone deacetylase 4 gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:1316832 D RGD:9068941 20200609 RGD PMID:23824486|REF_RGD_ID:9681450 11955904 HDAC4 histone deacetylase 4 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:619979 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:brain: PMID:23480850|REF_RGD_ID:9681449 11955904 HDAC4 histone deacetylase 4 gene DOID:3627 aortic aneurysm ISO RGD:1316832 D RGD:9068941 20200609 RGD mRNA:decreased expression:aorta: PMID:19389706|REF_RGD_ID:9681448 11955904 HDAC4 histone deacetylase 4 gene DOID:630 genetic disease ISO RGD:1316832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33537682 11955904 HDAC4 histone deacetylase 4 gene DOID:6432 pulmonary hypertension ISO RGD:1316832 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:22711276|REF_RGD_ID:9590133 11955904 HDAC4 histone deacetylase 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1316832 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:21837748|REF_RGD_ID:9681451 11955904 HDAC4 histone deacetylase 4 gene DOID:8466 retinal degeneration treatment ISO RGD:1316832 D RGD:9068941 20200609 RGD PMID:19131628|REF_RGD_ID:9681456 11955904 HDAC4 histone deacetylase 4 gene DOID:8670 eating disorder ISO RGD:1316832 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: PMID:24216484|REF_RGD_ID:9681452 11955904 HDAC4 histone deacetylase 4 gene DOID:8670 eating disorder ISO RGD:1550759 D RGD:9068941 20220825 MouseDO 11955904 HDAC4 histone deacetylase 4 gene DOID:9000784 Fibrosis ISO RGD:619979 D RGD:9068941 20200609 RGD protein:increased expression:penis: PMID:24636283|REF_RGD_ID:9590194 11955904 HDAC4 histone deacetylase 4 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1316832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11955904 HDAC4 histone deacetylase 4 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1316832 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:24717296|REF_RGD_ID:9590311 11955904 HDAC4 histone deacetylase 4 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1550759 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:24717296|REF_RGD_ID:9590311 11955904 HDAC4 histone deacetylase 4 gene DOID:9002165 Diabetic Nephropathies ISO RGD:619979 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:24717296|REF_RGD_ID:9590311 11955904 HDAC4 histone deacetylase 4 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:619979 D RGD:9068941 20200609 RGD PMID:24717296|REF_RGD_ID:9590311 11955904 HDAC4 histone deacetylase 4 gene DOID:9002661 Diabetes Complications ISO RGD:1316832 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35554780 11955904 HDAC4 histone deacetylase 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 11955904 HDAC4 histone deacetylase 4 gene DOID:9004484 Sepsis ISO RGD:619979 D RGD:9068941 20200609 RGD PMID:23925573|REF_RGD_ID:9681446 11955904 HDAC4 histone deacetylase 4 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1316832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17988634 11955904 HDAC4 histone deacetylase 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619979 D RGD:9068941 20200609 RGD protein:increased activity:renal cortex: PMID:19553350|REF_RGD_ID:9590229 11955904 HDAC4 histone deacetylase 4 gene DOID:9005754 Hypoalgesia ISO RGD:1550759 D RGD:9068941 20200609 RGD PMID:19672313|REF_RGD_ID:9681457 11955904 HDAC4 histone deacetylase 4 gene DOID:9006182 Carotid Artery Injuries ISO RGD:619979 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery: PMID:19389706|REF_RGD_ID:9681448 11955904 HDAC4 histone deacetylase 4 gene DOID:9006432 Brachydactyly, Type E ISO RGD:1316832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24715439 11955904 HDAC4 histone deacetylase 4 gene DOID:9007096 Stroke ISO RGD:619979 D RGD:9068941 20200609 RGD PMID:24657831|REF_RGD_ID:9590303 11955904 HDAC4 histone deacetylase 4 gene DOID:9007607 NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES ISO RGD:1316832 D RGD:7240710 20220511 OMIM 11955904 HDAC4 histone deacetylase 4 gene DOID:9007607 NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES ISO RGD:1316832 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with central hypotonia and dysmorphic facies PMID:25741868|PMID:33537682 11955904 HDAC4 histone deacetylase 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1316832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11955904 HDAC4 histone deacetylase 4 gene DOID:9538 multiple myeloma ISO RGD:1316832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11955904 HDAC4 histone deacetylase 4 gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:1316832 D RGD:9068941 20200609 RGD PMID:23948281|REF_RGD_ID:9681454 11955904 HDAC4 histone deacetylase 4 gene DOID:9970 obesity ISO RGD:1316832 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:mononuclear cell, adipose tissue: PMID:24086512|REF_RGD_ID:9681453 11955944 ACOT2 acyl-CoA thioesterase 2 gene DOID:1059 intellectual disability ISO RGD:1605691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11955944 ACOT2 acyl-CoA thioesterase 2 gene DOID:630 genetic disease ISO RGD:1605691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955944 ACOT2 acyl-CoA thioesterase 2 gene DOID:9003936 Cardiomegaly ISO RGD:621055 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart (rat) PMID:15292030|REF_RGD_ID:2315862 11955944 ACOT2 acyl-CoA thioesterase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621055 D RGD:9068941 20200609 RGD protein:increased expression:heart, mitochondrion (rat) PMID:17438340|REF_RGD_ID:2315861 11955944 ACOT2 acyl-CoA thioesterase 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1605691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11955944 ACOT2 acyl-CoA thioesterase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:621055 D RGD:9068941 20200609 RGD PMID:16979414|REF_RGD_ID:1625728 11955954 KRT19 keratin 19 gene DOID:2841 asthma ISO RGD:733914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15478392 11955954 KRT19 keratin 19 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:733914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 11955954 KRT19 keratin 19 gene DOID:417 autoimmune disease ISO RGD:733914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 11955954 KRT19 keratin 19 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer PMID:25741868 11955954 KRT19 keratin 19 gene DOID:630 genetic disease ISO RGD:733914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955954 KRT19 keratin 19 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11955954 KRT19 keratin 19 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:733914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 11955954 KRT19 keratin 19 gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:733914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 11955954 KRT19 keratin 19 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22011395 11955954 KRT19 keratin 19 gene DOID:9008510 Chronic Hepatitis ISO RGD:733914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 11955954 KRT19 keratin 19 gene DOID:9446 cholangitis ISO RGD:733914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 11955964 ASCL2 achaete-scute family bHLH transcription factor 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11955964 ASCL2 achaete-scute family bHLH transcription factor 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:735625 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11955964 ASCL2 achaete-scute family bHLH transcription factor 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11955964 ASCL2 achaete-scute family bHLH transcription factor 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11955964 ASCL2 achaete-scute family bHLH transcription factor 2 gene DOID:630 genetic disease ISO RGD:735625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955964 ASCL2 achaete-scute family bHLH transcription factor 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:735625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 11955964 ASCL2 achaete-scute family bHLH transcription factor 2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:735625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11955969 INSL5 insulin like 5 gene DOID:1059 intellectual disability ISO RGD:1350939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11955969 INSL5 insulin like 5 gene DOID:630 genetic disease ISO RGD:1350939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955975 GAK cyclin G associated kinase gene DOID:14330 Parkinson's disease ISO RGD:731643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20711177 11955975 GAK cyclin G associated kinase gene DOID:1856 cherubism ISO RGD:731643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11955975 GAK cyclin G associated kinase gene DOID:630 genetic disease ISO RGD:731643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11955975 GAK cyclin G associated kinase gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:731643 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 11956016 AFG2B AFG2 AAA ATPase homolog B gene DOID:0050712 AGAT deficiency ISO RGD:1317463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 11956016 AFG2B AFG2 AAA ATPase homolog B gene DOID:2717 Bloom syndrome ISO RGD:1317463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11956016 AFG2B AFG2 AAA ATPase homolog B gene DOID:630 genetic disease ISO RGD:1317463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956016 AFG2B AFG2 AAA ATPase homolog B gene DOID:9001315 NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY ISO RGD:1317463 D RGD:7240710 20220216 OMIM 11956016 AFG2B AFG2 AAA ATPase homolog B gene DOID:9001315 NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY ISO RGD:1317463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hearing loss and spasticity | ClinVar Annotator: match by term: SPATA5L1-associated disorder PMID:25741868|PMID:28492532|PMID:34626583 11956016 AFG2B AFG2 AAA ATPase homolog B gene DOID:9005720 Autosomal Recessive Nonsyndromic Deafness 119 ISO RGD:1317463 D RGD:7240710 20211208 OMIM 11956016 AFG2B AFG2 AAA ATPase homolog B gene DOID:9005720 Autosomal Recessive Nonsyndromic Deafness 119 ISO RGD:1317463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 119 PMID:25741868|PMID:28492532|PMID:34626583 11956016 AFG2B AFG2 AAA ATPase homolog B gene DOID:9256 colorectal cancer ISO RGD:1317463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11956031 ALG5 ALG5 dolichyl-phosphate beta-glucosyltransferase gene DOID:630 genetic disease ISO RGD:1318934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956031 ALG5 ALG5 dolichyl-phosphate beta-glucosyltransferase gene DOID:9006011 Polycystic Kidney Disease 7 ISO RGD:1318934 D RGD:7240710 20221012 OMIM 11956031 ALG5 ALG5 dolichyl-phosphate beta-glucosyltransferase gene DOID:9006011 Polycystic Kidney Disease 7 ISO RGD:1318934 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 7 PMID:35896117 11956048 DYRK3 dual specificity tyrosine phosphorylation regulated kinase 3 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1322106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11956048 DYRK3 dual specificity tyrosine phosphorylation regulated kinase 3 gene DOID:12849 autistic disorder ISO RGD:1322106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11956048 DYRK3 dual specificity tyrosine phosphorylation regulated kinase 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1322106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11956048 DYRK3 dual specificity tyrosine phosphorylation regulated kinase 3 gene DOID:630 genetic disease ISO RGD:1322106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956048 DYRK3 dual specificity tyrosine phosphorylation regulated kinase 3 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1322106 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11956048 DYRK3 dual specificity tyrosine phosphorylation regulated kinase 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11956055 LOC100991836 sperm protein associated with the nucleus on the X chromosome N2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11956055 LOC100991836 sperm protein associated with the nucleus on the X chromosome N2 gene DOID:12849 autistic disorder ISO RGD:1606621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11956055 LOC100991836 sperm protein associated with the nucleus on the X chromosome N2 gene DOID:630 genetic disease ISO RGD:1606621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956055 LOC100991836 sperm protein associated with the nucleus on the X chromosome N2 gene DOID:9005521 Chromosome Xq28 Duplication Syndrome ISO RGD:1606621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome 11956064 EFCAB3 EF-hand calcium binding domain 3 gene DOID:630 genetic disease ISO RGD:1603895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956075 CCND1 cyclin D1 gene DOID:0001816 angiosarcoma ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 11956075 CCND1 cyclin D1 gene DOID:0050746 mantle cell lymphoma ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22383795|PMID:26174628 11956075 CCND1 cyclin D1 gene DOID:0050746 mantle cell lymphoma ISO RGD:68556 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow, peripheral blood (human) PMID:24060591|REF_RGD_ID:11352827 11956075 CCND1 cyclin D1 gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:68556 D RGD:9068941 20220825 RGD protein:increased expression:tongue (human) PMID:26581505|REF_RGD_ID:11535375 11956075 CCND1 cyclin D1 gene DOID:0050902 medulloblastoma ISO RGD:68557 D RGD:9068941 20200609 RGD PMID:16943274|REF_RGD_ID:13681932 11956075 CCND1 cyclin D1 gene DOID:0050912 colon adenoma severity ISO RGD:68556 D RGD:9068941 20220311 RGD PMID:11375949|REF_RGD_ID:151665121 11956075 CCND1 cyclin D1 gene DOID:0060060 non-Hodgkin lymphoma susceptibility ISO RGD:68556 D RGD:9068941 20200609 RGD DNA:snp:exon:c.870G>A (human) PMID:25169547|REF_RGD_ID:11353786 11956075 CCND1 cyclin D1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151359 11956075 CCND1 cyclin D1 gene DOID:0060074 ductal carcinoma in situ ISO RGD:68556 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:14612904|REF_RGD_ID:2289132 11956075 CCND1 cyclin D1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11956075 CCND1 cyclin D1 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:68557 D RGD:9068941 20200609 RGD mRNA:increased expression:B cell (mouse) PMID:23169640|REF_RGD_ID:11353783 11956075 CCND1 cyclin D1 gene DOID:10283 prostate cancer ISO RGD:68384 D RGD:9068941 20200609 RGD PMID:17908994|REF_RGD_ID:2289128 11956075 CCND1 cyclin D1 gene DOID:1059 intellectual disability ISO RGD:68556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11956075 CCND1 cyclin D1 gene DOID:11054 urinary bladder cancer ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:bladder PMID:12372886|REF_RGD_ID:13602096 11956075 CCND1 cyclin D1 gene DOID:11054 urinary bladder cancer ISO RGD:68556 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36115647 11956075 CCND1 cyclin D1 gene DOID:11624 penile benign neoplasm ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:nucleus PMID:17695500|REF_RGD_ID:2289129 11956075 CCND1 cyclin D1 gene DOID:11832 visual epilepsy ISO RGD:68384 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, cerebral cortex PMID:16696308|REF_RGD_ID:2289147 11956075 CCND1 cyclin D1 gene DOID:1240 leukemia ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10602166 11956075 CCND1 cyclin D1 gene DOID:13543 hyperparathyroidism ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21541686 11956075 CCND1 cyclin D1 gene DOID:14175 von Hippel-Lindau disease ISO RGD:68556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF PMID:10667569|PMID:11459873|PMID:12097293|PMID:23502783|PMID:24870244 11956075 CCND1 cyclin D1 gene DOID:14175 von Hippel-Lindau disease susceptibility ISO RGD:68556 D RGD:7240710 20230505 OMIM 11956075 CCND1 cyclin D1 gene DOID:1749 squamous cell carcinoma ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 11956075 CCND1 cyclin D1 gene DOID:1749 squamous cell carcinoma susceptibility ISO RGD:68556 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms;DNA:polymorphism: :870A>G PMID:18548202|REF_RGD_ID:2296032 11956075 CCND1 cyclin D1 gene DOID:1793 pancreatic cancer ISO RGD:68556 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:22722256|REF_RGD_ID:13451541 11956075 CCND1 cyclin D1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:68557 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas (mouse) PMID:11159909|REF_RGD_ID:13452385 11956075 CCND1 cyclin D1 gene DOID:1793 pancreatic cancer treatment ISO RGD:68556 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:17541034|REF_RGD_ID:13462059 11956075 CCND1 cyclin D1 gene DOID:1824 status epilepticus treatment ISO RGD:68384 D RGD:9068941 20200609 RGD PMID:24051278|REF_RGD_ID:11352818 11956075 CCND1 cyclin D1 gene DOID:1875 impotence ISO RGD:68384 D RGD:9068941 20200609 RGD mRNA:decreased expression:penis erectile tissue PMID:17137605|REF_RGD_ID:1625408 11956075 CCND1 cyclin D1 gene DOID:2615 papilloma ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151359 11956075 CCND1 cyclin D1 gene DOID:2671 transitional cell carcinoma ISO RGD:68384 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:urinary bladder PMID:16896691|REF_RGD_ID:2289144 11956075 CCND1 cyclin D1 gene DOID:2671 transitional cell carcinoma ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151359 11956075 CCND1 cyclin D1 gene DOID:2671 transitional cell carcinoma ISO RGD:68556 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:urinary bladder PMID:16896691|REF_RGD_ID:2289144 11956075 CCND1 cyclin D1 gene DOID:2671 transitional cell carcinoma ISO RGD:68557 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:urinary bladder PMID:16896691|REF_RGD_ID:2289144 11956075 CCND1 cyclin D1 gene DOID:299 adenocarcinoma ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 11956075 CCND1 cyclin D1 gene DOID:305 carcinoma ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:14522882|PMID:16316942|PMID:17173897 11956075 CCND1 cyclin D1 gene DOID:3069 malignant astrocytoma severity ISO RGD:68556 D RGD:9068941 20200609 RGD PMID:10419598|REF_RGD_ID:13681931 11956075 CCND1 cyclin D1 gene DOID:3070 high grade glioma ISO RGD:68557 D RGD:9068941 20200609 RGD PMID:21844184|REF_RGD_ID:13702091 11956075 CCND1 cyclin D1 gene DOID:3070 high grade glioma disease_progression ISO RGD:68556 D RGD:9068941 20200609 RGD PMID:21844184|REF_RGD_ID:13702091 11956075 CCND1 cyclin D1 gene DOID:3070 high grade glioma susceptibility ISO RGD:68556 D RGD:9068941 20200609 RGD PMID:22304571|REF_RGD_ID:13681930 11956075 CCND1 cyclin D1 gene DOID:3457 invasive lobular carcinoma ISO RGD:68556 D RGD:9068941 20200609 RGD DNA:amplification:cds (human) PMID:12448002|REF_RGD_ID:11353788 11956075 CCND1 cyclin D1 gene DOID:3457 invasive lobular carcinoma ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:12203362|REF_RGD_ID:2289133 11956075 CCND1 cyclin D1 gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:22939953|REF_RGD_ID:13462062 11956075 CCND1 cyclin D1 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:68556 D RGD:9068941 20200609 RGD DNA:snp:exon:c.870G>A (human) PMID:25470788|REF_RGD_ID:13462050 11956075 CCND1 cyclin D1 gene DOID:3571 liver cancer disease_progression ISO RGD:68384 D RGD:9068941 20220224 RGD protein:increased expression:liver (rat) PMID:11797828|REF_RGD_ID:151356973 11956075 CCND1 cyclin D1 gene DOID:3587 pancreatic ductal carcinoma severity ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:17420962|REF_RGD_ID:13462063 11956075 CCND1 cyclin D1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 11956075 CCND1 cyclin D1 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:27498289|REF_RGD_ID:13434929 11956075 CCND1 cyclin D1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:68556 D RGD:9068941 20200609 RGD PMID:26055143|REF_RGD_ID:11052612 11956075 CCND1 cyclin D1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:68556 D RGD:9068941 20200609 RGD DNA:amplification PMID:9462706|REF_RGD_ID:13434928 11956075 CCND1 cyclin D1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:68556 D RGD:9068941 20200609 RGD mRNA:splice variant PMID:18715616|REF_RGD_ID:13434926 11956075 CCND1 cyclin D1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:68556 D RGD:9068941 20200609 RGD DNA:SNP: :870A>G (human) PMID:16406195|REF_RGD_ID:13434924 11956075 CCND1 cyclin D1 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:68556 D RGD:9068941 20200609 RGD PMID:26681199|REF_RGD_ID:11536846 11956075 CCND1 cyclin D1 gene DOID:3910 lung adenocarcinoma treatment ISO RGD:68556 D RGD:9068941 20200609 RGD PMID:19355812|REF_RGD_ID:13434927 11956075 CCND1 cyclin D1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:68556 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid PMID:28677753|REF_RGD_ID:13792605 11956075 CCND1 cyclin D1 gene DOID:4001 ovarian carcinoma treatment ISO RGD:68556 D RGD:9068941 20200710 RGD PMID:18025280|REF_RGD_ID:2296036 11956075 CCND1 cyclin D1 gene DOID:4074 pancreatic adenocarcinoma severity ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:25053516|REF_RGD_ID:13462053 11956075 CCND1 cyclin D1 gene DOID:4450 renal cell carcinoma ISO RGD:68556 D RGD:9068941 20200609 RGD PMID:17924468|REF_RGD_ID:2289127 11956075 CCND1 cyclin D1 gene DOID:4450 renal cell carcinoma ISO RGD:68556 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15538282|REF_RGD_ID:2289130 11956075 CCND1 cyclin D1 gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:14674039|REF_RGD_ID:13434930 11956075 CCND1 cyclin D1 gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:68556 D RGD:9068941 20200609 RGD DNA:snp:exon:c.870G>A (human) PMID:29739297|REF_RGD_ID:13673912 11956075 CCND1 cyclin D1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26909611|PMID:29464035 11956075 CCND1 cyclin D1 gene DOID:5520 head and neck squamous cell carcinoma disease_progression ISO RGD:68556 D RGD:9068941 20200609 RGD PMID:9796972|REF_RGD_ID:13434911 11956075 CCND1 cyclin D1 gene DOID:630 genetic disease ISO RGD:68556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956075 CCND1 cyclin D1 gene DOID:6827 pancreatic solid pseudopapillary carcinoma severity ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:19248223|REF_RGD_ID:13462054 11956075 CCND1 cyclin D1 gene DOID:684 hepatocellular carcinoma ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12029619|PMID:19919837|PMID:22649188|PMID:25822088|PMID:26189965 11956075 CCND1 cyclin D1 gene DOID:684 hepatocellular carcinoma ISO RGD:68557 D RGD:9068941 20210702 RGD mRNA:increased expression:liver (mouse) PMID:28100771|REF_RGD_ID:127285675 11956075 CCND1 cyclin D1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:68556 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic;DNA:SNP:splice-site mutation:870G>A (human) PMID:25851350|REF_RGD_ID:14401586 11956075 CCND1 cyclin D1 gene DOID:8634 prostate carcinoma in situ ISO RGD:68557 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:prostate gland PMID:14968434|REF_RGD_ID:2289283 11956075 CCND1 cyclin D1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:18301453|REF_RGD_ID:2293574 11956075 CCND1 cyclin D1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12235107 11956075 CCND1 cyclin D1 gene DOID:9000217 Stomach Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21628965 11956075 CCND1 cyclin D1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:14522882|PMID:16316942|PMID:17173897 11956075 CCND1 cyclin D1 gene DOID:9000918 Disease Progression ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29103775 11956075 CCND1 cyclin D1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:68556 D RGD:9068941 20200609 RGD associated with Carcinoma, Non-Small-Cell Lung;mRNA:splice variant PMID:18715616|REF_RGD_ID:13434926 11956075 CCND1 cyclin D1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:68556 D RGD:9068941 20220616 RGD associated with stomach cancer; human cells in mouse model PMID:27431311|REF_RGD_ID:152995400 11956075 CCND1 cyclin D1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:68384 D RGD:9068941 20200609 RGD PMID:17055752|REF_RGD_ID:2289139 11956075 CCND1 cyclin D1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 11956075 CCND1 cyclin D1 gene DOID:9001642 Intestinal Polyps ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12584176 11956075 CCND1 cyclin D1 gene DOID:9002170 Experimental Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20932960 11956075 CCND1 cyclin D1 gene DOID:9002221 Hyperplasia ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151359|PMID:21541686 11956075 CCND1 cyclin D1 gene DOID:9002265 Kidney Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21693435 11956075 CCND1 cyclin D1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17606477 11956075 CCND1 cyclin D1 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:68557 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:prostate gland PMID:14968434|REF_RGD_ID:2289283 11956075 CCND1 cyclin D1 gene DOID:9002928 Colonic Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18283038|PMID:19147571|PMID:21081470|PMID:21188121 11956075 CCND1 cyclin D1 gene DOID:9002981 Genomic Instability ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8548770 11956075 CCND1 cyclin D1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11956075 CCND1 cyclin D1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 11956075 CCND1 cyclin D1 gene DOID:9003373 Uterine Cervical Neoplasms onset ISO RGD:68556 D RGD:9068941 20200609 RGD DNA:polymorphism: :870A>G PMID:18355450|REF_RGD_ID:2296033 11956075 CCND1 cyclin D1 gene DOID:9003694 Cecal Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14688030 11956075 CCND1 cyclin D1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:68556 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11956075 CCND1 cyclin D1 gene DOID:9004009 Reperfusion Injury ISO RGD:68384 D RGD:9068941 20200609 RGD PMID:16718823|REF_RGD_ID:2289145 11956075 CCND1 cyclin D1 gene DOID:9004017 Chronic Hepatitis C ISO RGD:68556 D RGD:9068941 20200626 RGD mRNA:increased expression:CD19+Bcell: PMID:20189883|REF_RGD_ID:32716380 11956075 CCND1 cyclin D1 gene DOID:9004078 Pancreatic Intraepithelial Neoplasia ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:12882690|REF_RGD_ID:13462061 11956075 CCND1 cyclin D1 gene DOID:9004078 Pancreatic Intraepithelial Neoplasia disease_progression ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:11751405|REF_RGD_ID:13464129 11956075 CCND1 cyclin D1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23811263 11956075 CCND1 cyclin D1 gene DOID:9004643 Urologic Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21040761 11956075 CCND1 cyclin D1 gene DOID:9005172 Lung Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11307925|PMID:16289808 11956075 CCND1 cyclin D1 gene DOID:9005207 Nasopharyngeal Neoplasms onset ISO RGD:68556 D RGD:9068941 20200609 RGD DNA:polymorphism: :870A>G PMID:18355450|REF_RGD_ID:2296033 11956075 CCND1 cyclin D1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:68384 D RGD:9068941 20200609 RGD PMID:12602925|REF_RGD_ID:2289337 11956075 CCND1 cyclin D1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:68384 D RGD:9068941 20200609 RGD protein:decreased expression:mammary gland PMID:12649181|REF_RGD_ID:2289336 11956075 CCND1 cyclin D1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:68384 D RGD:9068941 20220324 RGD mRNA:increased expression:mammary gland (rat) PMID:16316942|REF_RGD_ID:2306898 11956075 CCND1 cyclin D1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:68384 D RGD:9068941 20220331 RGD mRNA, protein:increased expression:mammary gland (rat) PMID:12376462|REF_RGD_ID:2292404 11956075 CCND1 cyclin D1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:14522882|PMID:16316942 11956075 CCND1 cyclin D1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:68557 D RGD:9068941 20200609 RGD PMID:17440082|REF_RGD_ID:2296037 11956075 CCND1 cyclin D1 gene DOID:9007102 Myocardial Ischemia ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11956075 CCND1 cyclin D1 gene DOID:9007170 Bowen's Disease ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29103775 11956075 CCND1 cyclin D1 gene DOID:9007188 Liver Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27064257 11956075 CCND1 cyclin D1 gene DOID:9007502 Brain Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20932960|PMID:27935819 11956075 CCND1 cyclin D1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21726611|PMID:24362009 11956075 CCND1 cyclin D1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29232554 11956075 CCND1 cyclin D1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:18306533|REF_RGD_ID:2296034 11956075 CCND1 cyclin D1 gene DOID:9007730 Burns ISO RGD:68384 D RGD:9068941 20200609 RGD PMID:17996899|REF_RGD_ID:2289134 11956075 CCND1 cyclin D1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:68556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11956075 CCND1 cyclin D1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:68556 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 11956075 CCND1 cyclin D1 gene DOID:9008939 Breast Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12839951|PMID:17255770|PMID:19636701|PMID:20948315|PMID:23839043|PMID:25267515 11956075 CCND1 cyclin D1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:15647071|REF_RGD_ID:2289131 11956075 CCND1 cyclin D1 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:68556 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:18194538|REF_RGD_ID:2289126 11956075 CCND1 cyclin D1 gene DOID:9119 acute myeloid leukemia ISO RGD:68556 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow (human) PMID:22391157|REF_RGD_ID:11352824 11956075 CCND1 cyclin D1 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:68556 D RGD:9068941 20200609 RGD human tumor in a mouse model PMID:21928377|REF_RGD_ID:11353789 11956075 CCND1 cyclin D1 gene DOID:9256 colorectal cancer ISO RGD:68556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to PMID:10667569|PMID:11459873|PMID:12097293|PMID:23502783|PMID:24870244 11956075 CCND1 cyclin D1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:68556 D RGD:7240710 20230505 OMIM 11956075 CCND1 cyclin D1 gene DOID:9538 multiple myeloma ISO RGD:68556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma, translocation 11,14 type PMID:10667569|PMID:11459873|PMID:12097293|PMID:23502783|PMID:24870244 11956075 CCND1 cyclin D1 gene DOID:9538 multiple myeloma susceptibility ISO RGD:68556 D RGD:7240710 20230505 OMIM 11956075 CCND1 cyclin D1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:68556 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow (human) PMID:22391157|REF_RGD_ID:11352824 11956082 ALG10B ALG10 alpha-1,2-glucosyltransferase B gene DOID:0050563 nonsyndromic deafness ISO RGD:1623681 D RGD:9068941 20230427 MouseDO 11956082 ALG10B ALG10 alpha-1,2-glucosyltransferase B gene DOID:0110645 long QT syndrome 2 ISO RGD:1344377 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 11956082 ALG10B ALG10 alpha-1,2-glucosyltransferase B gene DOID:0110645 long QT syndrome 2 susceptibility ISO RGD:1344377 D RGD:7240710 20230505 OMIM 11956082 ALG10B ALG10 alpha-1,2-glucosyltransferase B gene DOID:630 genetic disease ISO RGD:1344377 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956097 LOC100967935 olfactory receptor 5T2 gene DOID:1059 intellectual disability ISO RGD:1347254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11956097 LOC100967935 olfactory receptor 5T2 gene DOID:630 genetic disease ISO RGD:1347254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956098 GAB4 GRB2 associated binding protein family member 4 gene DOID:630 genetic disease ISO RGD:1350229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956098 GAB4 GRB2 associated binding protein family member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11956112 GALNT5 polypeptide N-acetylgalactosaminyltransferase 5 gene DOID:0060041 autism spectrum disorder ISO RGD:737016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11956112 GALNT5 polypeptide N-acetylgalactosaminyltransferase 5 gene DOID:630 genetic disease ISO RGD:737016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956126 TPCN2 two pore segment channel 2 gene DOID:1059 intellectual disability ISO RGD:1323411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11956126 TPCN2 two pore segment channel 2 gene DOID:630 genetic disease ISO RGD:1323411 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11956126 TPCN2 two pore segment channel 2 gene DOID:9000097 Skin/Hair/Eye Pigmentation, Variation In, 10 ISO RGD:1323411 D RGD:7240710 20210818 OMIM 11956126 TPCN2 two pore segment channel 2 gene DOID:9000097 Skin/Hair/Eye Pigmentation, Variation In, 10 ISO RGD:1323411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 10 PMID:18488028|PMID:25741868 11956126 TPCN2 two pore segment channel 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1323411 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11956126 TPCN2 two pore segment channel 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1323411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11956126 TPCN2 two pore segment channel 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1323411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11956171 SLC6A15 solute carrier family 6 member 15 gene DOID:630 genetic disease ISO RGD:735866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956187 ZNF703 zinc finger protein 703 gene DOID:630 genetic disease ISO RGD:1602208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956197 KLC1 kinesin light chain 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1352040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11956197 KLC1 kinesin light chain 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1352040 D RGD:9068941 20200609 RGD DNA:SNP:intron:56836G>C (human) PMID:15364413|REF_RGD_ID:5684007 11956197 KLC1 kinesin light chain 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1352040 D RGD:9068941 20200609 RGD DNA:SNPs: :rs8007903, rs3212079 (human) PMID:19911314|REF_RGD_ID:5683908 11956197 KLC1 kinesin light chain 1 gene DOID:1612 breast cancer ISO RGD:1352040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to PMID:12023982 11956197 KLC1 kinesin light chain 1 gene DOID:2378 relapsing-remitting multiple sclerosis susceptibility ISO RGD:1352040 D RGD:9068941 20200609 RGD DNA:SNP:intron:56836G>C (rs8702) (human) PMID:17999208|REF_RGD_ID:5684008 11956197 KLC1 kinesin light chain 1 gene DOID:2394 ovarian cancer ISO RGD:1352040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 11956197 KLC1 kinesin light chain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1352040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 PMID:25741868 11956197 KLC1 kinesin light chain 1 gene DOID:630 genetic disease ISO RGD:1352040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956197 KLC1 kinesin light chain 1 gene DOID:6846 familial melanoma ISO RGD:1352040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 6 PMID:11059748 11956197 KLC1 kinesin light chain 1 gene DOID:9001620 Leukoaraiosis ISO RGD:1352040 D RGD:9068941 20200609 RGD associated with hypertension;DNA:polymorphism:intron:5836G>C(human) PMID:17917076|REF_RGD_ID:5683912 11956197 KLC1 kinesin light chain 1 gene DOID:9001620 Leukoaraiosis ISO RGD:1352040 D RGD:9068941 20200609 RGD associated with hypertension;DNA:polymorphisms:5'utr:185A>C,406C>T (human) PMID:17977659|REF_RGD_ID:5683914 11956265 SLC12A4 solute carrier family 12 member 4 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:736767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11956265 SLC12A4 solute carrier family 12 member 4 gene DOID:1391 Norum disease ISO RGD:736767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency PMID:1571050|PMID:15994445|PMID:1662503|PMID:21875686|PMID:21901787|PMID:22189200|PMID:24636183|PMID:24715031|PMID:25727495|PMID:25741868|PMID:26195816|PMID:28492532|PMID:29030428|PMID:30333156|PMID:33816482|PMID:7613477|PMID:9541390|PMID:9741700 11956265 SLC12A4 solute carrier family 12 member 4 gene DOID:630 genetic disease ISO RGD:736767 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11956314 MRPL33 mitochondrial ribosomal protein L33 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1343335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11956325 GNPDA1 glucosamine-6-phosphate deaminase 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349274 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11956325 GNPDA1 glucosamine-6-phosphate deaminase 1 gene DOID:0080600 COVID-19 ISO RGD:1349274 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11956325 GNPDA1 glucosamine-6-phosphate deaminase 1 gene DOID:630 genetic disease ISO RGD:1349274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956325 GNPDA1 glucosamine-6-phosphate deaminase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11956325 GNPDA1 glucosamine-6-phosphate deaminase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11956325 GNPDA1 glucosamine-6-phosphate deaminase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349274 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11956345 LCAT lecithin-cholesterol acyltransferase gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:737383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11956345 LCAT lecithin-cholesterol acyltransferase gene DOID:1168 familial hyperlipidemia ISO RGD:2993 D RGD:9068941 20200609 RGD PMID:12935429|REF_RGD_ID:1581787 11956345 LCAT lecithin-cholesterol acyltransferase gene DOID:1391 Norum disease ISO RGD:737383 D RGD:7240710 20180130 OMIM 11956345 LCAT lecithin-cholesterol acyltransferase gene DOID:1391 Norum disease ISO RGD:737383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: Norum disease PMID:1516702|PMID:15297675|PMID:1571050|PMID:15994445|PMID:1662503|PMID:1681161|PMID:1737840|PMID:17526537|PMID:1859405|PMID:2052566|PMID:21600519|PMID:21875686|PMID:21901787|PMID:22090275|PMID:22189200|PMID:22629316|PMID:22701329|PMID:22923420|PMID:23236364|PMID:2370048|PMID:24503134|PMID:24507774|PMID:24636183|PMID:24715031|PMID:25727495|PMID:25741868|PMID:26195816|PMID:28492532|PMID:28870971|PMID:28983876|PMID:29030428|PMID:29083407|PMID:30333156|PMID:31164121|PMID:32041611|PMID:33816482|PMID:6078131|PMID:6624548|PMID:7613477|PMID:8432868|PMID:8620346|PMID:8675648|PMID:8755645|PMID:9261271|PMID:9541390|PMID:9741700 11956345 LCAT lecithin-cholesterol acyltransferase gene DOID:2349 arteriosclerosis ISO RGD:10859 D RGD:9068941 20200609 RGD PMID:11809774|REF_RGD_ID:1581783 11956345 LCAT lecithin-cholesterol acyltransferase gene DOID:2349 arteriosclerosis susceptibility ISO RGD:737383 D RGD:9068941 20200609 RGD PMID:12673583|REF_RGD_ID:1581779 11956345 LCAT lecithin-cholesterol acyltransferase gene DOID:5844 myocardial infarction ISO RGD:2993 D RGD:9068941 20200609 RGD PMID:16640830|REF_RGD_ID:1581773 11956345 LCAT lecithin-cholesterol acyltransferase gene DOID:630 genetic disease ISO RGD:737383 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11956345 LCAT lecithin-cholesterol acyltransferase gene DOID:684 hepatocellular carcinoma ISO RGD:737383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11956345 LCAT lecithin-cholesterol acyltransferase gene DOID:783 end stage renal disease ISO RGD:2993 D RGD:9068941 20200609 RGD PMID:15280162|REF_RGD_ID:1581769 11956345 LCAT lecithin-cholesterol acyltransferase gene DOID:9006599 Hypertriglyceridemia ISO RGD:10859 D RGD:9068941 20200609 RGD PMID:14668345|REF_RGD_ID:1581782 11956355 SLC44A2 solute carrier family 44 member 2 gene DOID:630 genetic disease ISO RGD:1601745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956355 SLC44A2 solute carrier family 44 member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1601745 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11956394 PDE9A phosphodiesterase 9A gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:733534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11956394 PDE9A phosphodiesterase 9A gene DOID:0110266 cataract 9 multiple types ISO RGD:733534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11956394 PDE9A phosphodiesterase 9A gene DOID:12858 Huntington's disease treatment ISO RGD:621035 D RGD:9068941 20230330 RGD PMID:25315303|REF_RGD_ID:243048432 11956394 PDE9A phosphodiesterase 9A gene DOID:12930 dilated cardiomyopathy ISO RGD:733534 D RGD:9068941 20230325 RGD protein:increased expression:heart PMID:25799991|REF_RGD_ID:240550109 11956394 PDE9A phosphodiesterase 9A gene DOID:6000 congestive heart failure severity ISO RGD:733534 D RGD:9068941 20230325 RGD mRNA:increased expression:heart, peripheral blood mononuclear cell PMID:33787083|REF_RGD_ID:240191787 11956394 PDE9A phosphodiesterase 9A gene DOID:6000 congestive heart failure treatment ISO RGD:621035 D RGD:9068941 20230325 RGD PMID:28649129|REF_RGD_ID:241060360 11956394 PDE9A phosphodiesterase 9A gene DOID:630 genetic disease ISO RGD:733534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956394 PDE9A phosphodiesterase 9A gene DOID:8725 vascular dementia treatment ISO RGD:733535 D RGD:9068941 20230325 RGD PMID:30916555|REF_RGD_ID:242905183 11956394 PDE9A phosphodiesterase 9A gene DOID:891 progressive myoclonus epilepsy ISO RGD:733534 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11956394 PDE9A phosphodiesterase 9A gene DOID:9000543 Death sexual_dimorphism ISO RGD:733534 D RGD:9068941 20230325 RGD associated with coronary artery disease;DNA:SNP: :rs8133010 (human) PMID:35959094|REF_RGD_ID:242905186 11956394 PDE9A phosphodiesterase 9A gene DOID:9003197 Vaso-occlusive Crisis treatment ISO RGD:733535 D RGD:9068941 20230325 RGD PMID:22833547|REF_RGD_ID:242905184 11956394 PDE9A phosphodiesterase 9A gene DOID:9003936 Cardiomegaly treatment ISO RGD:621035 D RGD:9068941 20230325 RGD PMID:28649129|REF_RGD_ID:241060360 11956394 PDE9A phosphodiesterase 9A gene DOID:9003936 Cardiomegaly treatment ISO RGD:733535 D RGD:9068941 20230325 RGD PMID:25799991|PMID:33464954|REF_RGD_ID:240550109|REF_RGD_ID:242905185 11956394 PDE9A phosphodiesterase 9A gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:733535 D RGD:9068941 20230325 RGD PMID:34618683|REF_RGD_ID:242170038 11956394 PDE9A phosphodiesterase 9A gene DOID:9263 homocystinuria ISO RGD:733534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11956394 PDE9A phosphodiesterase 9A gene DOID:9562 primary ciliary dyskinesia ISO RGD:733534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11956394 PDE9A phosphodiesterase 9A gene DOID:9970 obesity treatment ISO RGD:733535 D RGD:9068941 20230325 RGD PMID:34618683|REF_RGD_ID:242170038 11956422 MYADM myeloid associated differentiation marker gene DOID:0090063 familial cold autoinflammatory syndrome 2 ISO RGD:1353717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 PMID:28492532 11956422 MYADM myeloid associated differentiation marker gene DOID:630 genetic disease ISO RGD:1353717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956422 MYADM myeloid associated differentiation marker gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353717 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11956435 TAF1D TATA-box binding protein associated factor, RNA polymerase I subunit D gene DOID:1059 intellectual disability ISO RGD:1601854 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11956435 TAF1D TATA-box binding protein associated factor, RNA polymerase I subunit D gene DOID:37 skin disease ISO RGD:1601854 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11956435 TAF1D TATA-box binding protein associated factor, RNA polymerase I subunit D gene DOID:630 genetic disease ISO RGD:1601854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956435 TAF1D TATA-box binding protein associated factor, RNA polymerase I subunit D gene DOID:9007964 Arsenic Poisoning ISO RGD:1601854 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11956449 MLXIPL MLX interacting protein like gene DOID:0060041 autism spectrum disorder ISO RGD:1343873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 11956449 MLXIPL MLX interacting protein like gene DOID:10923 sickle cell anemia ISO RGD:1343873 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 11956449 MLXIPL MLX interacting protein like gene DOID:12849 autistic disorder ISO RGD:1343873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11956449 MLXIPL MLX interacting protein like gene DOID:1928 Williams-Beuren syndrome ISO RGD:1343873 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868|PMID:28492532 11956449 MLXIPL MLX interacting protein like gene DOID:2661 myoepithelioma ISO RGD:1343873 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11956449 MLXIPL MLX interacting protein like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11956449 MLXIPL MLX interacting protein like gene DOID:5419 schizophrenia ISO RGD:1343873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11956449 MLXIPL MLX interacting protein like gene DOID:630 genetic disease ISO RGD:1343873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956449 MLXIPL MLX interacting protein like gene DOID:684 hepatocellular carcinoma ISO RGD:1343873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 11956449 MLXIPL MLX interacting protein like gene DOID:783 end stage renal disease ISO RGD:1343873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 11956449 MLXIPL MLX interacting protein like gene DOID:8445 intestinal volvulus ISO RGD:1343873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11956449 MLXIPL MLX interacting protein like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11956449 MLXIPL MLX interacting protein like gene DOID:9008419 Volvulus Of Midgut ISO RGD:1343873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11956449 MLXIPL MLX interacting protein like gene DOID:9778 irritable bowel syndrome ISO RGD:1621550 D RGD:9068941 20220825 MouseDO 11956479 KLHL42 kelch like family member 42 gene DOID:630 genetic disease ISO RGD:1348247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956489 SURF6 surfeit 6 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316549 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11956489 SURF6 surfeit 6 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1316549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11956489 SURF6 surfeit 6 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316549 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11956489 SURF6 surfeit 6 gene DOID:0081097 Rafiq syndrome ISO RGD:1316549 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11956489 SURF6 surfeit 6 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1316549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11956489 SURF6 surfeit 6 gene DOID:3652 Leigh disease ISO RGD:1316549 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11956489 SURF6 surfeit 6 gene DOID:630 genetic disease ISO RGD:1316549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956502 ABCF2 ATP binding cassette subfamily F member 2 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1312673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 11956502 ABCF2 ATP binding cassette subfamily F member 2 gene DOID:2843 long QT syndrome ISO RGD:1312673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 11956502 ABCF2 ATP binding cassette subfamily F member 2 gene DOID:630 genetic disease ISO RGD:1312673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956502 ABCF2 ATP binding cassette subfamily F member 2 gene DOID:9000918 Disease Progression ISO RGD:1312673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 11956529 WEE1 WEE1 G2 checkpoint kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1317355 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:34664776 11956529 WEE1 WEE1 G2 checkpoint kinase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1317355 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25125259 11956529 WEE1 WEE1 G2 checkpoint kinase gene DOID:630 genetic disease ISO RGD:1317355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956547 GDPGP1 GDP-D-glucose phosphorylase 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1605191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 11956547 GDPGP1 GDP-D-glucose phosphorylase 1 gene DOID:2717 Bloom syndrome ISO RGD:1605191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11956547 GDPGP1 GDP-D-glucose phosphorylase 1 gene DOID:630 genetic disease ISO RGD:1605191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956547 GDPGP1 GDP-D-glucose phosphorylase 1 gene DOID:9256 colorectal cancer ISO RGD:1605191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11956560 LOC100984709 C4b-binding protein alpha chain gene DOID:0050589 inflammatory bowel disease ISO RGD:736103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 11956560 LOC100984709 C4b-binding protein alpha chain gene DOID:0080600 COVID-19 severity ISO RGD:736103 D RGD:9068941 20200813 RGD DNA:SNP: :rs61821041(human) PMID:32747830|REF_RGD_ID:38500238 11956560 LOC100984709 C4b-binding protein alpha chain gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:736103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 11956560 LOC100984709 C4b-binding protein alpha chain gene DOID:12849 autistic disorder ISO RGD:736103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11956560 LOC100984709 C4b-binding protein alpha chain gene DOID:1540 parathyroid carcinoma ISO RGD:736103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11956560 LOC100984709 C4b-binding protein alpha chain gene DOID:630 genetic disease ISO RGD:736103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956560 LOC100984709 C4b-binding protein alpha chain gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736103 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11956560 LOC100984709 C4b-binding protein alpha chain gene DOID:9008604 Radiation Pneumonitis ISO RGD:736103 D RGD:9068941 20200609 RGD Protein: increased expression: plasma PMID:20510197|REF_RGD_ID:5129484 11956560 LOC100984709 C4b-binding protein alpha chain gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0050731 vitamin B12 deficiency ISO RGD:621283 D RGD:9068941 20200609 RGD protein:decreased expression,decreased activity:liver: PMID:14646334|REF_RGD_ID:8694080 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0050733 methylmalonic aciduria and homocystinuria type cblG ISO RGD:731933 D RGD:7240710 20230510 OMIM 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0050733 methylmalonic aciduria and homocystinuria type cblG ISO RGD:731933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG PMID:10323741|PMID:12068375|PMID:12154064|PMID:12375236|PMID:12923861|PMID:16199547|PMID:17576681|PMID:20890936|PMID:21615938|PMID:22887477|PMID:25227144|PMID:25526710|PMID:25558065|PMID:25741868|PMID:25856670|PMID:26198278|PMID:28492532|PMID:28666289|PMID:32581362|PMID:8968736|PMID:8968737|PMID:9013615|PMID:9235907|PMID:9536098|PMID:9683607 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0050873 follicular lymphoma ISO RGD:731933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16410450 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:731933 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0060058 lymphoma ISO RGD:731933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16799656 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:731933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:28492532 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:731933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0080016 spina bifida ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:polymorphism: :2756A>G(human) PMID:12375236|REF_RGD_ID:1302512 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0110428 dilated cardiomyopathy 1AA ISO RGD:731933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:28492532 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0112256 homocystinuria-megaloblastic anemia cblG type ISO RGD:731933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG PMID:10323741|PMID:12068375|PMID:12154064|PMID:12375236|PMID:12923861|PMID:16199547|PMID:17576681|PMID:20890936|PMID:21615938|PMID:22887477|PMID:25227144|PMID:25526710|PMID:25558065|PMID:25741868|PMID:25856670|PMID:26198278|PMID:28492532|PMID:28666289|PMID:32581362|PMID:8968736|PMID:8968737|PMID:9013615|PMID:9235907|PMID:9536098|PMID:9683607 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:1059 intellectual disability ISO RGD:731933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:10763 hypertension ISO RGD:731933 D RGD:9068941 20200609 RGD PMID:15148588|REF_RGD_ID:1581050 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:polymorphism: :2756A>G(human) PMID:19837268|REF_RGD_ID:6893521 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:114 heart disease ISO RGD:731933 D RGD:9068941 20200609 RGD PMID:15202865|REF_RGD_ID:1581049 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:12336 male infertility ISO RGD:731933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16861746 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:12849 autistic disorder susceptibility ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:polymorphism: :66A>G (human) PMID:19440165|REF_RGD_ID:5508202 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:1540 parathyroid carcinoma ISO RGD:731933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:1793 pancreatic cancer no_association ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:Polymorphism: :rs1805087 (human) PMID:16737574|REF_RGD_ID:2317120 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:1793 pancreatic cancer susceptibility ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:Polymorphism: :rs1805087 (human) PMID:18843018|REF_RGD_ID:2317118 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:1826 epilepsy ISO RGD:731933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:12068375|PMID:25526710|PMID:25558065|PMID:25741868|PMID:25856670|PMID:28492532|PMID:28666289|PMID:32581362|PMID:8968736|PMID:9235907 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:2986 IgA glomerulonephritis ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:polymorphism:Cds :2756A>G(human) PMID:21737517|REF_RGD_ID:7207085 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:630 genetic disease ISO RGD:731933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12068375|PMID:25526710|PMID:25558065|PMID:25741868|PMID:25856670|PMID:26198278|PMID:28492532|PMID:28666289|PMID:32581362|PMID:8968736|PMID:9235907 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:655 inherited metabolic disorder ISO RGD:731933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:10323741|PMID:12068375|PMID:12154064|PMID:12375236|PMID:12923861|PMID:20890936|PMID:21615938|PMID:25227144|PMID:25526710|PMID:25558065|PMID:25741868|PMID:25856670|PMID:26198278|PMID:28492532|PMID:28666289|PMID:32581362|PMID:8968736|PMID:8968737|PMID:9013615|PMID:9235907 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:674 cleft palate ISO RGD:731933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:74 hematopoietic system disease ISO RGD:731933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19159907 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:768 retinoblastoma susceptibility ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:SNP::2756A>G(human) PMID:20310006|REF_RGD_ID:8694083 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:77 gastrointestinal system disease ISO RGD:731933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19159907 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9001989 Folate-Sensitive Neural Tube Defects ISO RGD:731933 D RGD:7240710 20230510 OMIM 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9001989 Folate-Sensitive Neural Tube Defects ISO RGD:731933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to PMID:10323741|PMID:12154064|PMID:12375236|PMID:12923861|PMID:25227144|PMID:25741868|PMID:28492532|PMID:8968737|PMID:9013615 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9002704 Leukoencephalopathies ISO RGD:731933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15753437 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9003817 Sudden Hearing Loss susceptibility ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:SNP::2756A>G(human) PMID:16778415|REF_RGD_ID:8694081 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9004538 Hearing Loss susceptibility ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:SNP::2756A>G(human) PMID:21385350|REF_RGD_ID:7387225 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621283 D RGD:9068941 20200609 RGD protein:decreased activity:liver PMID:18936199|REF_RGD_ID:7207081 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9005695 Malnutrition ISO RGD:731933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16709328 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:731933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15753437|PMID:19159907 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9008939 Breast Neoplasms ISO RGD:731933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17595805 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:10323741|PMID:12154064|PMID:12375236|PMID:12923861|PMID:25227144|PMID:25741868|PMID:28492532|PMID:8968737|PMID:9013615 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9263 homocystinuria ISO RGD:731933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Homocystinuria PMID:12068375|PMID:25526710|PMID:25558065|PMID:25741868|PMID:25856670|PMID:28492532|PMID:28666289|PMID:32581362|PMID:8968736|PMID:9235907 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9279 hyperhomocysteinemia ISO RGD:731933 D RGD:9068941 20200609 RGD PMID:12068375|REF_RGD_ID:1601425 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9296 cleft lip ISO RGD:731933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9352 type 2 diabetes mellitus ISO RGD:621283 D RGD:9068941 20200609 RGD PMID:21818837|REF_RGD_ID:7207079 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9538 multiple myeloma susceptibility ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:polymorphism: :2756A>G(human) PMID:17655928|REF_RGD_ID:11075095 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:SNP::rs10925235(human) PMID:26605150|REF_RGD_ID:11531136 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:polymorphism: :66A>G(human) PMID:21618417|REF_RGD_ID:11531141 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:polymorphism: :2756A>G(human) PMID:22453148|REF_RGD_ID:11531137 11956588 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:polymorphism: :2756A>G(human) PMID:15159311|REF_RGD_ID:11531140 11956629 MEIS1 Meis homeobox 1 gene DOID:0050425 restless legs syndrome ISO RGD:1315277 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17637780|PMID:28604731 11956629 MEIS1 Meis homeobox 1 gene DOID:114 heart disease ISO RGD:1315277 D RGD:9068941 20221027 RGD mRNA, protein:decreased expression:heart (human) PMID:26597775|REF_RGD_ID:11554891 11956629 MEIS1 Meis homeobox 1 gene DOID:630 genetic disease ISO RGD:1315277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956629 MEIS1 Meis homeobox 1 gene DOID:9003936 Cardiomegaly ISO RGD:1550525 D RGD:9068941 20221027 RGD mRNA, protein:decreased expression:heart (mouse) PMID:26597775|REF_RGD_ID:11554891 11956629 MEIS1 Meis homeobox 1 gene DOID:9004576 Sleep Initiation and Maintenance Disorders ISO RGD:1315277 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28604731 11956629 MEIS1 Meis homeobox 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1315277 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19776672 11956654 PPP2R5C protein phosphatase 2 regulatory subunit B'gamma gene DOID:0081206 autosomal recessive intellectual developmental disorder 41 ISO RGD:1319620 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Macrocephaly-developmental delay syndrome PMID:25741868 11956654 PPP2R5C protein phosphatase 2 regulatory subunit B'gamma gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1319620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11956654 PPP2R5C protein phosphatase 2 regulatory subunit B'gamma gene DOID:10283 prostate cancer ISO RGD:1319620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11956654 PPP2R5C protein phosphatase 2 regulatory subunit B'gamma gene DOID:1059 intellectual disability ISO RGD:1319620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11956654 PPP2R5C protein phosphatase 2 regulatory subunit B'gamma gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1319620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 11956654 PPP2R5C protein phosphatase 2 regulatory subunit B'gamma gene DOID:630 genetic disease ISO RGD:1319620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956654 PPP2R5C protein phosphatase 2 regulatory subunit B'gamma gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1319620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16038780 11956654 PPP2R5C protein phosphatase 2 regulatory subunit B'gamma gene DOID:9003882 Chromosomal Instability ISO RGD:1319620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25772433 11956654 PPP2R5C protein phosphatase 2 regulatory subunit B'gamma gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11956654 PPP2R5C protein phosphatase 2 regulatory subunit B'gamma gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1319620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25772433 11956654 PPP2R5C protein phosphatase 2 regulatory subunit B'gamma gene DOID:9008086 Developmental Disabilities ISO RGD:1319620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11956695 CARF calcium responsive transcription factor gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1315654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11956695 CARF calcium responsive transcription factor gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1315654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11956695 CARF calcium responsive transcription factor gene DOID:14557 primary pulmonary hypertension ISO RGD:1315654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11956695 CARF calcium responsive transcription factor gene DOID:3393 coronary artery disease ISO RGD:1315654 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 11956695 CARF calcium responsive transcription factor gene DOID:630 genetic disease ISO RGD:1315654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956695 CARF calcium responsive transcription factor gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1315654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 11956695 CARF calcium responsive transcription factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11956695 CARF calcium responsive transcription factor gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1315654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:0060590 XFE progeroid syndrome ISO RGD:1315922 D RGD:9068941 20220825 MouseDO OMIM:610965 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:0080914 cerebrooculofacioskeletal syndrome 4 ISO RGD:1315921 D RGD:7240710 20180130 OMIM 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:0080914 cerebrooculofacioskeletal syndrome 4 ISO RGD:1315921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 PMID:17273966|PMID:23623389|PMID:25741868|PMID:28492532|PMID:33116287|PMID:33315086 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:0110845 xeroderma pigmentosum group D ISO RGD:1315921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group D 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:10534 stomach cancer ameliorates ISO RGD:1315921 D RGD:9068941 20221006 RGD DNA:SNP:intron: (rs3212961) (human) PMID:27340861|REF_RGD_ID:155260339 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:10534 stomach cancer ameliorates ISO RGD:1315921 D RGD:9068941 20221006 RGD mRNA:increased expression:stomach (human) PMID:30417012|REF_RGD_ID:155260342 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:10534 stomach cancer disease_progression ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:SNP:exon:354C>T (human) PMID:26499900|REF_RGD_ID:11340202 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:10534 stomach cancer no_association ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snp:intron:c.-7-277G>T (human) (rs2298881) PMID:24793015|REF_RGD_ID:13207425 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:10534 stomach cancer severity ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snp:3' utr:c.*197G>T (rs3212986) (human) PMID:27173253|REF_RGD_ID:13207427 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:10534 stomach cancer severity ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snps:exon, intron:c.354T>C, c.-7-277G>T (human) (rs11615, rs2298881) PMID:24318989|REF_RGD_ID:13207309 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:10534 stomach cancer treatment ISO RGD:1315921 D RGD:9068941 20200609 RGD PMID:23338051|REF_RGD_ID:11252163 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:1074 kidney failure treatment ISO RGD:1315921 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms;DNA:SNPs: :8092C>A, 19007T>C (human) PMID:19786980|REF_RGD_ID:5688741 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:11476 osteoporosis ISO RGD:1315922 D RGD:9068941 20200609 RGD PMID:23281008|REF_RGD_ID:10045609 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:14227 azoospermia susceptibility ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snp:3' utr:c.8092C>A (human) PMID:18616887|REF_RGD_ID:13207429 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:14566 disease of cellular proliferation ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23203453 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:1574 alcohol use disorder ISO RGD:1306992 D RGD:9068941 20200609 RGD PMID:23095216|REF_RGD_ID:10045658 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:1612 breast cancer susceptibility ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snp:3' utr:c.8092C>A (human) PMID:15958648|REF_RGD_ID:13207317 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snp:3' utr:c.*197G>T (rs3212986) (human) PMID:27050953|REF_RGD_ID:13207426 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:1909 melanoma ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21722328 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:2152 ovary epithelial cancer disease_progression ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snp:3' utr:c.8092C>A (human) PMID:18640939|REF_RGD_ID:13204969 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:224 transient cerebral ischemia treatment ISO RGD:1315921 D RGD:9068941 20200609 RGD human gene in a rat model PMID:19440222|REF_RGD_ID:2313668 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:2355 anemia treatment ISO RGD:1315921 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms;DNA:SNP: :rs11615 (human) PMID:25881102|REF_RGD_ID:11252176 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:2394 ovarian cancer disease_progression ISO RGD:1315921 D RGD:9068941 20200609 RGD PMID:21216588|REF_RGD_ID:11252174 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:2962 Cockayne syndrome ISO RGD:1315921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cockayne syndrome PMID:17273966|PMID:23623389 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3070 high grade glioma susceptibility ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snp:3'utr:c.8092C>A (human) (rs3212986) PMID:25867436|REF_RGD_ID:13207318 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3347 osteosarcoma severity ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:silent mutation:cds:p.N118N (human) PMID:23098477|REF_RGD_ID:13207418 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3748 esophagus squamous cell carcinoma treatment ISO RGD:1315921 D RGD:9068941 20200609 RGD PMID:23263828|REF_RGD_ID:11252162 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3905 lung carcinoma ISO RGD:1306992 D RGD:9068941 20200609 RGD PMID:21530494|REF_RGD_ID:10045659 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3908 lung non-small cell carcinoma ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21553054|PMID:23912706 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1315921 D RGD:9068941 20210604 RGD PMID:23549037|REF_RGD_ID:127229950 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:silent mutation:cds:p.N118N (human) PMID:15140544|REF_RGD_ID:13207428 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1315921 D RGD:9068941 20200609 RGD protein:decreased expression:lung (human) PMID:16957145|REF_RGD_ID:13207308 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1315921 D RGD:9068941 20210604 RGD PMID:24443257|REF_RGD_ID:127229948 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1315921 D RGD:9068941 20221006 RGD DNA:SNPs:multiple (human) PMID:28924235|REF_RGD_ID:153323316 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3910 lung adenocarcinoma ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21327329 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:4914 esophagus adenocarcinoma susceptibility ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snps:cds, 3' utr:c.354C>T, c.8092C>A (human) PMID:18478337|REF_RGD_ID:13207314 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:4971 myelofibrosis ISO RGD:1315921 D RGD:9068941 20200609 RGD PMID:23571153|REF_RGD_ID:11252175 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:574 peripheral nervous system disease ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20979931 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:630 genetic disease ISO RGD:1315921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:684 hepatocellular carcinoma ISO RGD:1315921 D RGD:9068941 20221020 RGD mRNA, protein:increased expression:liver (human) PMID:15922480|REF_RGD_ID:155598683 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:811 lipodystrophy ISO RGD:1315922 D RGD:9068941 20200609 RGD PMID:24011075|REF_RGD_ID:10401088 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:8398 osteoarthritis ISO RGD:1315922 D RGD:9068941 20200609 RGD mRNA:decreased expression:knee, articular cartilage of joint PMID:24964749|REF_RGD_ID:10045611 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:90 degenerative disc disease ISO RGD:1315922 D RGD:9068941 20200609 RGD associated with Progeria PMID:20973062|REF_RGD_ID:13207419 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9000217 Stomach Neoplasms ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21133646 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24036326 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19956886 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9000965 Neoplasm Metastasis ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20801905 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1315921 D RGD:9068941 20200609 RGD associated with Melanoma PMID:26202595|REF_RGD_ID:11252177 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9001276 Failure to Thrive ISO RGD:1315921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:28492532|PMID:33315086 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1315922 D RGD:9068941 20200609 RGD PMID:22212909|REF_RGD_ID:13204968 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9002644 Premature Aging ISO RGD:1315922 D RGD:9068941 20200609 RGD PMID:22323595|REF_RGD_ID:10045610 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9002867 Myeloid Leukemia, Chronic-Phase treatment ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:SNP: :rs11615 (human) PMID:22821389|REF_RGD_ID:11252165 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20934765 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9003613 Laryngeal Neoplasms susceptibility ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snp:exon:c.354T>C (human) (rs11615) PMID:24582975|REF_RGD_ID:13207310 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9004009 Reperfusion Injury ISO RGD:1306992 D RGD:9068941 20200609 RGD PMID:19440222|REF_RGD_ID:2313668 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9004207 Testicular Neoplasms ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19956886 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:1315921 D RGD:9068941 20200609 RGD associated with Colorectal Neoplasms;DNA:SNP PMID:23543295|REF_RGD_ID:11340199 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9004814 Chromosome Aberrations ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24036326 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9005172 Lung Neoplasms ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30453383 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9005372 Inflammation ISO RGD:1315922 D RGD:9068941 20200609 RGD PMID:24011075|REF_RGD_ID:10401088 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:1306992 D RGD:9068941 20200609 RGD PMID:22228707|REF_RGD_ID:7296926 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9006796 Gastrointestinal Neoplasms disease_progression ISO RGD:1315921 D RGD:9068941 20200609 RGD PMID:20461087|REF_RGD_ID:11252166 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions treatment ISO RGD:1315921 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;DNA:SNP: :p.Q504K (human) PMID:25495407|REF_RGD_ID:11252168 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions treatment ISO RGD:1315921 D RGD:9068941 20200609 RGD associated with Leukemia, Myeloid, Acute PMID:17197435|REF_RGD_ID:11252178 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9007964 Arsenic Poisoning ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12569548 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9008443 Colorectal Neoplasms severity ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snp:cds:c.354C>T (human) PMID:16144923|REF_RGD_ID:13207315 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9008443 Colorectal Neoplasms susceptibility ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snp:3' utr:c.8092C>A (human) PMID:24531312|REF_RGD_ID:13207423 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9119 acute myeloid leukemia ISO RGD:1315921 D RGD:9068941 20200609 RGD PMID:18604718|PMID:21942242|REF_RGD_ID:11252170|REF_RGD_ID:11252171 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9119 acute myeloid leukemia ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R399Q (human) PMID:23397959|REF_RGD_ID:11252193 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9119 acute myeloid leukemia no_association ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:SNP: :p.Q504K (human) PMID:20141440|REF_RGD_ID:11252173 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1315921 D RGD:9068941 20200609 RGD PMID:16507781|REF_RGD_ID:11252179 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1315921 D RGD:9068941 20221006 RGD DNA:SNP:exon: (rs3212986) (human) PMID:29151331|REF_RGD_ID:155260348 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1315921 D RGD:9068941 20221006 RGD mRNA:increased expression:colorectum (human) PMID:16951227|REF_RGD_ID:155260343 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:1315921 D RGD:9068941 20220825 RGD DNA:SNP:3'utr: (rs3212986) (human) PMID:29516665|REF_RGD_ID:153344543 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9538 multiple myeloma treatment ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:SNP: :rs735482 (human) PMID:21435719|REF_RGD_ID:10450871 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:SNPs: :8092C>A, 19007G>A (human) PMID:16723154|REF_RGD_ID:11252160 11956747 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :p.R194W, p.R280H, p.R399Q (human) PMID:16435384|REF_RGD_ID:11340204 11956787 RTL3 retrotransposon Gag like 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11956787 RTL3 retrotransposon Gag like 3 gene DOID:12849 autistic disorder ISO RGD:1346934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11956787 RTL3 retrotransposon Gag like 3 gene DOID:630 genetic disease ISO RGD:1346934 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956801 LLGL2 LLGL scribble cell polarity complex component 2 gene DOID:0080600 COVID-19 ISO RGD:1353110 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11956801 LLGL2 LLGL scribble cell polarity complex component 2 gene DOID:630 genetic disease ISO RGD:1353110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956801 LLGL2 LLGL scribble cell polarity complex component 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1353110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 11956801 LLGL2 LLGL scribble cell polarity complex component 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1353110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 11956851 ANAPC11 anaphase promoting complex subunit 11 gene DOID:630 genetic disease ISO RGD:1343647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956905 TMEM51 transmembrane protein 51 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602878 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11956905 TMEM51 transmembrane protein 51 gene DOID:630 genetic disease ISO RGD:1602878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956923 ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif 18 gene DOID:0060041 autism spectrum disorder ISO RGD:1353739 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11956923 ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif 18 gene DOID:10584 retinitis pigmentosa ISO RGD:1353739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 11956923 ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif 18 gene DOID:14791 Leber congenital amaurosis ISO RGD:1353739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:28492532 11956923 ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif 18 gene DOID:630 genetic disease ISO RGD:1353739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11956923 ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif 18 gene DOID:9000789 Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus ISO RGD:1353739 D RGD:7240710 20180130 OMIM 11956923 ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif 18 gene DOID:9000789 Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus ISO RGD:1353739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcornea, myopic chorioretinal atrophy, and telecanthus PMID:22686506|PMID:23818446|PMID:24874986|PMID:25741868|PMID:28492532|PMID:28512305 11956923 ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif 18 gene DOID:9002033 Knobloch Syndrome ISO RGD:1353739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Knobloch syndrome PMID:21862674|PMID:23667181|PMID:28492532 11956923 ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif 18 gene DOID:9004628 Ohdo Syndrome, X-Linked ISO RGD:1353739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ohdo syndrome, X-linked PMID:25741868 11956949 MGAT4A alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A gene DOID:0080600 COVID-19 ISO RGD:1313803 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11956949 MGAT4A alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A gene DOID:1793 pancreatic cancer ISO RGD:1313803 D RGD:9068941 20200609 RGD PMID:16434023|REF_RGD_ID:2317701 11956949 MGAT4A alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A gene DOID:630 genetic disease ISO RGD:1313803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11956979 SIGLEC8 sialic acid binding Ig like lectin 8 gene DOID:630 genetic disease ISO RGD:1351533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957086 ZNF12 zinc finger protein 12 gene DOID:630 genetic disease ISO RGD:1349914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957103 SLC3A2 solute carrier family 3 member 2 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:735716 D RGD:9068941 20220225 RGD PMID:24762957|REF_RGD_ID:151361157 11957103 SLC3A2 solute carrier family 3 member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:735716 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11957103 SLC3A2 solute carrier family 3 member 2 gene DOID:0080202 adenoid cystic carcinoma disease_progression ISO RGD:735716 D RGD:9068941 20220303 RGD PMID:23516127|REF_RGD_ID:151361211 11957103 SLC3A2 solute carrier family 3 member 2 gene DOID:0080899 lung pleomorphic carcinoma disease_progression ISO RGD:735716 D RGD:9068941 20220303 RGD PMID:30300664|REF_RGD_ID:151361288 11957103 SLC3A2 solute carrier family 3 member 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:735716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11957103 SLC3A2 solute carrier family 3 member 2 gene DOID:10534 stomach cancer ISO RGD:735716 D RGD:9068941 20220623 RGD protein:increased expression:stomach (human) PMID:23116296|REF_RGD_ID:152995461 11957103 SLC3A2 solute carrier family 3 member 2 gene DOID:1059 intellectual disability ISO RGD:735716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11957103 SLC3A2 solute carrier family 3 member 2 gene DOID:2671 transitional cell carcinoma ISO RGD:3073 D RGD:9068941 20220224 RGD protein:increased expression:bladder PMID:28339760|REF_RGD_ID:151361118 11957103 SLC3A2 solute carrier family 3 member 2 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735716 D RGD:9068941 20220303 RGD PMID:22110199|REF_RGD_ID:151361206 11957103 SLC3A2 solute carrier family 3 member 2 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:735716 D RGD:9068941 20220623 RGD DNA:SNP:5'utr: (rs105929) (human) PMID:24782339|REF_RGD_ID:152995443 11957103 SLC3A2 solute carrier family 3 member 2 gene DOID:3908 lung non-small cell carcinoma sexual_dimorphism ISO RGD:735716 D RGD:9068941 20220623 RGD protein:increased expression:lung (human) PMID:25084765|REF_RGD_ID:152995442 11957103 SLC3A2 solute carrier family 3 member 2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:735716 D RGD:9068941 20220225 RGD PMID:19171406|REF_RGD_ID:151361151 11957103 SLC3A2 solute carrier family 3 member 2 gene DOID:5517 stomach carcinoma disease_progression ISO RGD:735716 D RGD:9068941 20220623 RGD mRNA:increased expression:stomach (human) PMID:29179459|REF_RGD_ID:152995459 11957103 SLC3A2 solute carrier family 3 member 2 gene DOID:630 genetic disease ISO RGD:735716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957103 SLC3A2 solute carrier family 3 member 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735716 D RGD:9068941 20220303 RGD PMID:19018776|REF_RGD_ID:151361278 11957103 SLC3A2 solute carrier family 3 member 2 gene DOID:9005172 Lung Neoplasms ISO RGD:735716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26621329 11957103 SLC3A2 solute carrier family 3 member 2 gene DOID:9006618 Liver Metastasis severity ISO RGD:3073 D RGD:9068941 20220224 RGD associated with colon adenocarcinoma PMID:11745822|REF_RGD_ID:151361130 11957131 PRDM2 PR/SET domain 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1348506 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11957131 PRDM2 PR/SET domain 2 gene DOID:11054 urinary bladder cancer ISO RGD:1348506 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 11957131 PRDM2 PR/SET domain 2 gene DOID:630 genetic disease ISO RGD:1348506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957131 PRDM2 PR/SET domain 2 gene DOID:670 amphetamine abuse ISO RGD:1348506 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11957131 PRDM2 PR/SET domain 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1348506 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:17103461 11957131 PRDM2 PR/SET domain 2 gene DOID:9006836 Contracture ISO RGD:1348506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 11957143 SLC35F1 solute carrier family 35 member F1 gene DOID:0060224 atrial fibrillation ISO RGD:1353208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 11957143 SLC35F1 solute carrier family 35 member F1 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1353208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 11957143 SLC35F1 solute carrier family 35 member F1 gene DOID:1059 intellectual disability ISO RGD:1353208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 11957143 SLC35F1 solute carrier family 35 member F1 gene DOID:10907 microcephaly ISO RGD:1353208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 11957143 SLC35F1 solute carrier family 35 member F1 gene DOID:1184 nephrotic syndrome ISO RGD:1353208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:29127259 11957143 SLC35F1 solute carrier family 35 member F1 gene DOID:12849 autistic disorder ISO RGD:1353208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:24824130 11957143 SLC35F1 solute carrier family 35 member F1 gene DOID:1826 epilepsy ISO RGD:1353208 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11957143 SLC35F1 solute carrier family 35 member F1 gene DOID:630 genetic disease ISO RGD:1353208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957143 SLC35F1 solute carrier family 35 member F1 gene DOID:9000495 Tremor ISO RGD:1353208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 11957143 SLC35F1 solute carrier family 35 member F1 gene DOID:9008086 Developmental Disabilities ISO RGD:1353208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24824130 11957160 SNRNP48 small nuclear ribonucleoprotein U11/U12 subunit 48 gene DOID:0090128 Carvajal syndrome ISO RGD:1319128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:28492532 11957160 SNRNP48 small nuclear ribonucleoprotein U11/U12 subunit 48 gene DOID:0110076 arrhythmogenic right ventricular dysplasia 8 ISO RGD:1319128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:28492532 11957160 SNRNP48 small nuclear ribonucleoprotein U11/U12 subunit 48 gene DOID:630 genetic disease ISO RGD:1319128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957173 ADAT2 adenosine deaminase tRNA specific 2 gene DOID:630 genetic disease ISO RGD:1320091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957184 KANSL3 KAT8 regulatory NSL complex subunit 3 gene DOID:1059 intellectual disability ISO RGD:1604339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11957184 KANSL3 KAT8 regulatory NSL complex subunit 3 gene DOID:5419 schizophrenia ISO RGD:1604339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11957184 KANSL3 KAT8 regulatory NSL complex subunit 3 gene DOID:630 genetic disease ISO RGD:1604339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957228 XRRA1 X-ray radiation resistance associated 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1313568 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11957228 XRRA1 X-ray radiation resistance associated 1 gene DOID:1059 intellectual disability ISO RGD:1313568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11957228 XRRA1 X-ray radiation resistance associated 1 gene DOID:630 genetic disease ISO RGD:1313568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957292 GALNT7 polypeptide N-acetylgalactosaminyltransferase 7 gene DOID:630 genetic disease ISO RGD:1347952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957292 GALNT7 polypeptide N-acetylgalactosaminyltransferase 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11957312 CHEK1 checkpoint kinase 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:732292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11957312 CHEK1 checkpoint kinase 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:732292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11957312 CHEK1 checkpoint kinase 1 gene DOID:10283 prostate cancer ISO RGD:732292 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11957312 CHEK1 checkpoint kinase 1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:732292 D RGD:9068941 20200609 RGD DNA:SNP: :35G>A (human) PMID:18381943|REF_RGD_ID:2317234 11957312 CHEK1 checkpoint kinase 1 gene DOID:5419 schizophrenia ISO RGD:732292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11957312 CHEK1 checkpoint kinase 1 gene DOID:630 genetic disease ISO RGD:732292 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957312 CHEK1 checkpoint kinase 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732292 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:15448002|REF_RGD_ID:2317235 11957312 CHEK1 checkpoint kinase 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:732292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11957312 CHEK1 checkpoint kinase 1 gene DOID:9005779 Polyploidy ISO RGD:732292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25123929 11957312 CHEK1 checkpoint kinase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26845104 11957312 CHEK1 checkpoint kinase 1 gene DOID:9007661 Dwarfism ISO RGD:732292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11957312 CHEK1 checkpoint kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25688741 11957345 LRRC17 leucine rich repeat containing 17 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11957345 LRRC17 leucine rich repeat containing 17 gene DOID:630 genetic disease ISO RGD:1344845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957359 TPR translocated promoter region, nuclear basket protein gene DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome ISO RGD:1321699 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome PMID:25741868|PMID:29397575 11957359 TPR translocated promoter region, nuclear basket protein gene DOID:1059 intellectual disability ISO RGD:1321699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11957359 TPR translocated promoter region, nuclear basket protein gene DOID:1540 parathyroid carcinoma ISO RGD:1321699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11957359 TPR translocated promoter region, nuclear basket protein gene DOID:630 genetic disease ISO RGD:1321699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957359 TPR translocated promoter region, nuclear basket protein gene DOID:9004547 Thyroid Neoplasms ISO RGD:1321699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23811263 11957359 TPR translocated promoter region, nuclear basket protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11957419 GAL3ST4 galactose-3-O-sulfotransferase 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11957419 GAL3ST4 galactose-3-O-sulfotransferase 4 gene DOID:630 genetic disease ISO RGD:1351990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957427 CABP1 calcium binding protein 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:620385 D RGD:9068941 20200609 RGD protein:altered expression:brain PMID:12941472|REF_RGD_ID:14399955 11957427 CABP1 calcium binding protein 1 gene DOID:5419 schizophrenia ISO RGD:731282 D RGD:9068941 20200609 RGD protein:altered expression:brain: PMID:17719205|REF_RGD_ID:14399958 11957427 CABP1 calcium binding protein 1 gene DOID:630 genetic disease ISO RGD:731282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957427 CABP1 calcium binding protein 1 gene DOID:9002607 Serotonin Syndrome ISO RGD:620385 D RGD:9068941 20200609 RGD protein:altered expression:postsynaptic density PMID:19224364|REF_RGD_ID:14399959 11957427 CABP1 calcium binding protein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:620385 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:21138988|REF_RGD_ID:7241599 11957438 HELLS helicase, lymphoid specific gene DOID:0090011 immunodeficiency-centromeric instability-facial anomalies syndrome 4 ISO RGD:1346644 D RGD:7240710 20190315 OMIM 11957438 HELLS helicase, lymphoid specific gene DOID:0090011 immunodeficiency-centromeric instability-facial anomalies syndrome 4 ISO RGD:1346644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 4 PMID:21596365|PMID:25741868|PMID:26216346|PMID:28492532 11957438 HELLS helicase, lymphoid specific gene DOID:11612 polycystic ovary syndrome ISO RGD:1346644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11957438 HELLS helicase, lymphoid specific gene DOID:3070 high grade glioma severity ISO RGD:1346644 D RGD:9068941 20200609 RGD PMID:28042322|REF_RGD_ID:13702468 11957438 HELLS helicase, lymphoid specific gene DOID:3910 lung adenocarcinoma ISO RGD:1346644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11957438 HELLS helicase, lymphoid specific gene DOID:630 genetic disease ISO RGD:1346644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11957438 HELLS helicase, lymphoid specific gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11957438 HELLS helicase, lymphoid specific gene DOID:9002644 Premature Aging ISO RGD:1616865 D RGD:9068941 20200609 RGD PMID:15105378|REF_RGD_ID:10402190 11957438 HELLS helicase, lymphoid specific gene DOID:9006205 Animal Disease Models ISO RGD:1346644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11957464 KAZN kazrin, periplakin interacting protein gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604041 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11957464 KAZN kazrin, periplakin interacting protein gene DOID:630 genetic disease ISO RGD:1604041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957498 ALDH1A3 aldehyde dehydrogenase 1 family member A3 gene DOID:0060041 autism spectrum disorder ISO RGD:1353558 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11957498 ALDH1A3 aldehyde dehydrogenase 1 family member A3 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1353558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 11957498 ALDH1A3 aldehyde dehydrogenase 1 family member A3 gene DOID:0060841 isolated microphthalmia 8 ISO RGD:1353558 D RGD:7240710 20180130 OMIM 11957498 ALDH1A3 aldehyde dehydrogenase 1 family member A3 gene DOID:0060841 isolated microphthalmia 8 ISO RGD:1353558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 8 PMID:23312594|PMID:23591992|PMID:24777706|PMID:25741868|PMID:26995144|PMID:27717089|PMID:28492532 11957498 ALDH1A3 aldehyde dehydrogenase 1 family member A3 gene DOID:0111807 syndromic microphthalmia 9 ISO RGD:1353558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated anophthalmia-microphthalmia syndrome PMID:25741868|PMID:28590501 11957498 ALDH1A3 aldehyde dehydrogenase 1 family member A3 gene DOID:10629 microphthalmia ISO RGD:1353558 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Microphthalmia PMID:25741868 11957498 ALDH1A3 aldehyde dehydrogenase 1 family member A3 gene DOID:12849 autistic disorder ISO RGD:1353558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 11957498 ALDH1A3 aldehyde dehydrogenase 1 family member A3 gene DOID:1909 melanoma ISO RGD:1353558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31580832 11957498 ALDH1A3 aldehyde dehydrogenase 1 family member A3 gene DOID:630 genetic disease ISO RGD:1353558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957498 ALDH1A3 aldehyde dehydrogenase 1 family member A3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1353558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11957498 ALDH1A3 aldehyde dehydrogenase 1 family member A3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11957516 LOC100967723 HLA class II histocompatibility antigen, DO alpha chain gene DOID:0050553 JMP syndrome ISO RGD:1342704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11957516 LOC100967723 HLA class II histocompatibility antigen, DO alpha chain gene DOID:0080820 occupational asthma treatment ISO RGD:1342704 D RGD:9068941 20200609 RGD DNA:SNP: :rs3128935(human) PMID:24709764|REF_RGD_ID:13506912 11957516 LOC100967723 HLA class II histocompatibility antigen, DO alpha chain gene DOID:409 liver disease ISO RGD:3477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11957516 LOC100967723 HLA class II histocompatibility antigen, DO alpha chain gene DOID:9005539 Familial Prostate Cancer ISO RGD:1342704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11957534 HOXB13 homeobox B13 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1319269 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:19250546|REF_RGD_ID:2314726 11957534 HOXB13 homeobox B13 gene DOID:10283 prostate cancer ISO RGD:1319269 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:15583692|REF_RGD_ID:2314731 11957534 HOXB13 homeobox B13 gene DOID:10534 stomach cancer ISO RGD:1319269 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:28492532|PMID:36988593 11957534 HOXB13 homeobox B13 gene DOID:1380 endometrial cancer ISO RGD:1319269 D RGD:9068941 20200609 RGD PMID:15756448|REF_RGD_ID:2314730 11957534 HOXB13 homeobox B13 gene DOID:1909 melanoma ISO RGD:1319269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 11957534 HOXB13 homeobox B13 gene DOID:4362 cervical cancer ISO RGD:1319269 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix PMID:16803519|REF_RGD_ID:2314728 11957534 HOXB13 homeobox B13 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1319269 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:16278676|REF_RGD_ID:2314729 11957534 HOXB13 homeobox B13 gene DOID:4905 pancreatic carcinoma ISO RGD:1319269 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:15964834|PMID:17138648|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27902461|PMID:28050579|PMID:28492532|PMID:28798948|PMID:30527799|PMID:30560549|PMID:32546843|PMID:8756292 11957534 HOXB13 homeobox B13 gene DOID:630 genetic disease ISO RGD:1319269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957534 HOXB13 homeobox B13 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319269 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:23104005|PMID:24239177|PMID:24390282|PMID:26457646|PMID:32690948|PMID:35468964 11957534 HOXB13 homeobox B13 gene DOID:9003452 Prostate Cancer, Hereditary, 9 ISO RGD:1319269 D RGD:7240710 20190315 OMIM 11957534 HOXB13 homeobox B13 gene DOID:9003452 Prostate Cancer, Hereditary, 9 ISO RGD:1319269 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 9 PMID:15964834|PMID:17138648|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27902461|PMID:28050579|PMID:28492532|PMID:28798948|PMID:30527799|PMID:30560549|PMID:31214711|PMID:32546843|PMID:8756292 11957534 HOXB13 homeobox B13 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1319269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 11957534 HOXB13 homeobox B13 gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:1319269 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11957534 HOXB13 homeobox B13 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1319269 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Prostate cancer susceptibility PMID:15964834|PMID:17138648|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27902461|PMID:28050579|PMID:28492532|PMID:28798948|PMID:30527799|PMID:30560549|PMID:32546843|PMID:8756292 11957534 HOXB13 homeobox B13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28166811|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29740894|PMID:31214711|PMID:32040869|PMID:32546843|PMID:8756292|PMID:9536098 11957534 HOXB13 homeobox B13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28166811|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29740894|PMID:31214711|PMID:32040869|PMID:32338768|PMID:32546843|PMID:8756292|PMID:9536098 11957534 HOXB13 homeobox B13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319269 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28166811|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29740894|PMID:30527799|PMID:30560549|PMID:31214711|PMID:32040869|PMID:32338768|PMID:32546843|PMID:8756292|PMID:9536098 11957534 HOXB13 homeobox B13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319269 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22423909|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23104005|PMID:23129385|PMID:23292082|PMID:23457453|PMID:23518396|PMID:23535732|PMID:24026887|PMID:24148311|PMID:24497837|PMID:24550738|PMID:24740154|PMID:24818853|PMID:25206306|PMID:25629170|PMID:25741868|PMID:25874003|PMID:26108461|PMID:26176944|PMID:26467025|PMID:26517352|PMID:26604137|PMID:26845104|PMID:26967244|PMID:27153395|PMID:27262462|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27814745|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28166811|PMID:28272408|PMID:28492532|PMID:28598379|PMID:28798948|PMID:29181843|PMID:29740894|PMID:29892050|PMID:29915322|PMID:30397198|PMID:30527799|PMID:30560549|PMID:30665703|PMID:30777372|PMID:31214711|PMID:31226226|PMID:31556563|PMID:32040869|PMID:32338768|PMID:32546843|PMID:32830201|PMID:8756292|PMID:9536098 11957534 HOXB13 homeobox B13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319269 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29471853|PMID:29740894|PMID:30527799|PMID:30560549|PMID:31214711|PMID:32040869|PMID:32338768|PMID:32546843|PMID:34799695|PMID:35031163|PMID:36988593|PMID:8756292|PMID:9536098 11957534 HOXB13 homeobox B13 gene DOID:9008939 Breast Neoplasms ISO RGD:1319269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24239177 11957534 HOXB13 homeobox B13 gene DOID:9008939 Breast Neoplasms ISO RGD:1319269 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:19250546|REF_RGD_ID:2314726 11957534 HOXB13 homeobox B13 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1319269 D RGD:9068941 20200609 RGD PMID:17453342|REF_RGD_ID:2314727 11957540 ELAPOR1 endosome-lysosome associated apoptosis and autophagy regulator 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1606254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11957540 ELAPOR1 endosome-lysosome associated apoptosis and autophagy regulator 1 gene DOID:12849 autistic disorder ISO RGD:1606254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11957540 ELAPOR1 endosome-lysosome associated apoptosis and autophagy regulator 1 gene DOID:630 genetic disease ISO RGD:1606254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957576 CMAS cytidine monophosphate N-acetylneuraminic acid synthetase gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1322089 D RGD:9068941 20220825 MouseDO 11957576 CMAS cytidine monophosphate N-acetylneuraminic acid synthetase gene DOID:630 genetic disease ISO RGD:1322088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957597 TRIM52 tripartite motif containing 52 gene DOID:630 genetic disease ISO RGD:1347364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957609 GCSAM germinal center associated signaling and motility gene DOID:630 genetic disease ISO RGD:1343482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957619 CD200 CD200 molecule gene DOID:417 autoimmune disease ISO RGD:1332092 D RGD:9068941 20220825 MouseDO OMIM:109100 | OMIM:607836 | OMIM:613551 11957619 CD200 CD200 molecule gene DOID:630 genetic disease ISO RGD:1606033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957644 PNMA1 PNMA family member 1 gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:737176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 11957644 PNMA1 PNMA family member 1 gene DOID:1059 intellectual disability ISO RGD:737176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11957652 NFKBIE NFKB inhibitor epsilon gene DOID:1909 melanoma ISO RGD:1352834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26343386 11957652 NFKBIE NFKB inhibitor epsilon gene DOID:630 genetic disease ISO RGD:1352834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957652 NFKBIE NFKB inhibitor epsilon gene DOID:7148 rheumatoid arthritis ISO RGD:1352834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 11957652 NFKBIE NFKB inhibitor epsilon gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11957673 ADGRG4 adhesion G protein-coupled receptor G4 gene DOID:0060022 CD40 ligand deficiency ISO RGD:1346347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11957673 ADGRG4 adhesion G protein-coupled receptor G4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11957673 ADGRG4 adhesion G protein-coupled receptor G4 gene DOID:0060825 Christianson syndrome ISO RGD:1346347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11957673 ADGRG4 adhesion G protein-coupled receptor G4 gene DOID:12849 autistic disorder ISO RGD:1346347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11957673 ADGRG4 adhesion G protein-coupled receptor G4 gene DOID:630 genetic disease ISO RGD:1346347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957673 ADGRG4 adhesion G protein-coupled receptor G4 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1346347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11957673 ADGRG4 adhesion G protein-coupled receptor G4 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1346347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Visceral heterotaxia PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11957707 KRT15 keratin 15 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1342638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11957707 KRT15 keratin 15 gene DOID:630 genetic disease ISO RGD:1342638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957707 KRT15 keratin 15 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1342638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11957707 KRT15 keratin 15 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1342638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22011395 11957719 SECTM1 secreted and transmembrane 1 gene DOID:630 genetic disease ISO RGD:1314321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957729 LOC100979321 pantetheine hydrolase VNN2 gene DOID:10283 prostate cancer ISO RGD:1353663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11957729 LOC100979321 pantetheine hydrolase VNN2 gene DOID:3310 atopic dermatitis ISO RGD:1353663 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:19322213 11957729 LOC100979321 pantetheine hydrolase VNN2 gene DOID:630 genetic disease ISO RGD:1353663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957729 LOC100979321 pantetheine hydrolase VNN2 gene DOID:8893 psoriasis ISO RGD:1353663 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:19322213 11957744 LOC100981334 X antigen family member 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1625833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11957744 LOC100981334 X antigen family member 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1625833 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:24648988 11957744 LOC100981334 X antigen family member 1 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1625833 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 11957744 LOC100981334 X antigen family member 1 gene DOID:12849 autistic disorder ISO RGD:1625833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11957751 PARD6A par-6 family cell polarity regulator alpha gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:1345737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 11957751 PARD6A par-6 family cell polarity regulator alpha gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1345737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11957751 PARD6A par-6 family cell polarity regulator alpha gene DOID:630 genetic disease ISO RGD:1345737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957765 GLIS1 GLIS family zinc finger 1 gene DOID:630 genetic disease ISO RGD:1343612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:733386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:25110237|PMID:25116393|PMID:25326635|PMID:25326637|PMID:25521989|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27125181|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28492532|PMID:28655553|PMID:30739908|PMID:31624717 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:733386 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:25110237|PMID:25116393|PMID:25326635|PMID:25326637|PMID:25521989|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28655553|PMID:31624717 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:733386 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25326635|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28655553|PMID:31624717 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:733386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25326635|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28655553|PMID:29192238|PMID:29706644|PMID:29907982|PMID:30219046|PMID:30701076|PMID:30739908|PMID:31624717|PMID:31915033|PMID:32339686|PMID:33436942|PMID:33824467 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:733386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:0070235 Loeys-Dietz syndrome 1 ISO RGD:733386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17652900|PMID:18070134|PMID:18455604|PMID:18781618|PMID:18852674|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25326635|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28209770|PMID:28492532|PMID:28550590|PMID:28655553|PMID:29192238|PMID:29706644|PMID:29907982|PMID:30219046|PMID:30701076|PMID:30739908|PMID:31915033|PMID:32339686|PMID:33436942|PMID:33824467|PMID:34270679 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:0070235 Loeys-Dietz syndrome 1 susceptibility ISO RGD:733386 D RGD:7240710 20230505 OMIM 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:733386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:733386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:1059 intellectual disability ISO RGD:733386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:11054 urinary bladder cancer ISO RGD:733386 D RGD:9068941 20200609 RGD PMID:9363992|REF_RGD_ID:2302036 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:127 leiomyoma ISO RGD:3852 D RGD:9068941 20200609 RGD PMID:17505012|REF_RGD_ID:2302021 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:12712 nephronophthisis ISO RGD:733386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:733386 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:16928994|PMID:18781618|PMID:20332227|PMID:24033266|PMID:24055113|PMID:25116393|PMID:25260786|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25907466|PMID:25985138|PMID:26017485|PMID:27011056|PMID:27153395|PMID:28492532|PMID:28655553 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733386 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23142374|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25521989|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27558455|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28166811|PMID:28492532|PMID:28655553|PMID:29543232|PMID:30087447|PMID:30675029|PMID:30739908|PMID:31624717|PMID:31837199|PMID:5173258|PMID:8499949|PMID:9536098 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733386 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23142374|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25521989|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28166811|PMID:28209770|PMID:28492532|PMID:28655553|PMID:30087447|PMID:30675029|PMID:31624717|PMID:31837199|PMID:31915033|PMID:5173258|PMID:8499949|PMID:9536098 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733386 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25437144|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28166811|PMID:28209770|PMID:28492532|PMID:28655553|PMID:29907982|PMID:30087447|PMID:30675029|PMID:31624717|PMID:31837199|PMID:31915033|PMID:5173258|PMID:8499949|PMID:9536098 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733386 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25437144|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28166811|PMID:28209770|PMID:28492532|PMID:28655553|PMID:29192238|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30675029|PMID:30701076|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:33256177|PMID:5173258|PMID:8499949|PMID:9536098 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25437144|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28655553|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:33256177|PMID:33436942|PMID:33824467|PMID:5173258|PMID:8499949|PMID:9536098 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:20813212|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25437144|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25640679|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28655553|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:33256177|PMID:33436942|PMID:33824467|PMID:5173258|PMID:8499949|PMID:9536098 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:14323 Marfan syndrome ISO RGD:733386 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:18781618|PMID:21267002|PMID:22414221|PMID:23884466|PMID:25521989|PMID:25741868|PMID:25944730|PMID:28152038|PMID:28209770|PMID:28492532|PMID:31624717 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:30675029 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:1580 diffuse scleroderma ISO RGD:733386 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27228633 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:2256 osteochondrodysplasia ISO RGD:3852 D RGD:9068941 20200609 RGD PMID:17366323|REF_RGD_ID:2302024 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:2340 craniosynostosis ISO RGD:733386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis PMID:25741868|PMID:31837199 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:2661 myoepithelioma ISO RGD:733386 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:3021 acute kidney failure ISO RGD:733386 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34677723 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:3498 pancreatic ductal adenocarcinoma ameliorates ISO RGD:733386 D RGD:9068941 20221027 RGD human cell line in a mouse model PMID:17297450|REF_RGD_ID:155630637 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:3883 Lynch syndrome ISO RGD:733386 D RGD:9068941 20200609 RGD PMID:17613544|REF_RGD_ID:2306282 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:418 systemic scleroderma ISO RGD:736083 D RGD:9068941 20220825 MouseDO OMIM:181750 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:4676 uremia ISO RGD:733386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:5082 liver cirrhosis ISO RGD:733386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28560358 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:520 aortic disease ISO RGD:733386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:16928994|PMID:23884466|PMID:26848186|PMID:27879313|PMID:28492532 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:557 kidney disease ISO RGD:3852 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:18198643|REF_RGD_ID:2302020 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:5585 Ferguson-Smith tumor ISO RGD:733386 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ferguson-Smith type epithelioma | ClinVar Annotator: match by term: Multiple self-healing squamous epithelioma PMID:16596670|PMID:16791849|PMID:16928994|PMID:18781618|PMID:19542084|PMID:21267002|PMID:21358634|PMID:22414221|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:25110237|PMID:25116393|PMID:25521989|PMID:25637381|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28209770|PMID:28492532|PMID:29706644|PMID:29907982|PMID:31915033|PMID:33256177|PMID:33824467|PMID:5173258|PMID:8499949 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:5585 Ferguson-Smith tumor susceptibility ISO RGD:733386 D RGD:7240710 20190502 OMIM 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:5844 myocardial infarction ISO RGD:3852 D RGD:9068941 20200609 RGD PMID:10198196|REF_RGD_ID:1601617 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:630 genetic disease ISO RGD:733386 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12499371|PMID:16928994|PMID:18781618|PMID:22113417|PMID:23672593|PMID:25437144|PMID:28492532 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:6432 pulmonary hypertension ISO RGD:3852 D RGD:9068941 20200609 RGD PMID:18202349|REF_RGD_ID:2302019 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:65 connective tissue disease ISO RGD:733386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:8398 osteoarthritis ISO RGD:736083 D RGD:9068941 20220825 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:612400 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733386 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:12808151|REF_RGD_ID:737735 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:733386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI PMID:25741868|PMID:27879313|PMID:28492532 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3852 D RGD:9068941 20200609 RGD PMID:15723089|REF_RGD_ID:2302027 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3852 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:16009107|REF_RGD_ID:1601595 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733386 D RGD:9068941 20200609 RGD PMID:15723089|REF_RGD_ID:2302027 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736083 D RGD:9068941 20200609 RGD PMID:15723089|REF_RGD_ID:2302027 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:733386 D RGD:9068941 20200924 RGD mRNA:increased expression:lung PMID:25593290|REF_RGD_ID:38500244 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:3852 D RGD:9068941 20200609 RGD associated with Experimental Pancreatitis, Chronic PMID:26645248|REF_RGD_ID:14995470 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:733386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:733386 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:18781618|PMID:21267002|PMID:22414221|PMID:23884466|PMID:25521989|PMID:25741868|PMID:25944730|PMID:28152038|PMID:28209770|PMID:28492532|PMID:31624717 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9004464 Skin Neoplasms ISO RGD:733386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21358634 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733386 D RGD:9068941 20200609 RGD PMID:12808151|REF_RGD_ID:737735 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9005890 Disproportionate Tall Stature ISO RGD:733386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Disproportionate tall stature PMID:16799921|PMID:19542084|PMID:26848186|PMID:26877057|PMID:28492532|PMID:30739908 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9006045 Dissecting Aneurysm ISO RGD:733386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22772368 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9006205 Animal Disease Models ISO RGD:733386 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27228633 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28560358 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:733386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:31837199 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18703712 11957784 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9256 colorectal cancer ISO RGD:733386 D RGD:9068941 20221027 RGD sporadic colorectal cancer;DNA:deletion:exon: (rs11466445) (human) PMID:24880985|REF_RGD_ID:155630638 11957800 PRTG protogenin gene DOID:12849 autistic disorder ISO RGD:1606409 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 11957800 PRTG protogenin gene DOID:2717 Bloom syndrome ISO RGD:1606409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11957800 PRTG protogenin gene DOID:630 genetic disease ISO RGD:1606409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957800 PRTG protogenin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11957800 PRTG protogenin gene DOID:9256 colorectal cancer ISO RGD:1606409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11957823 LIPF lipase F, gastric type gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1343616 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9286463|PMID:9467011 11957823 LIPF lipase F, gastric type gene DOID:630 genetic disease ISO RGD:1343616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957849 ARHGAP39 Rho GTPase activating protein 39 gene DOID:0050654 Baller-Gerold syndrome ISO RGD:1606778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:12734318|PMID:12952869|PMID:28492532 11957849 ARHGAP39 Rho GTPase activating protein 39 gene DOID:630 genetic disease ISO RGD:1606778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957874 ZP4 zona pellucida glycoprotein 4 gene DOID:10283 prostate cancer ISO RGD:1345250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11957874 ZP4 zona pellucida glycoprotein 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1345250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11957874 ZP4 zona pellucida glycoprotein 4 gene DOID:630 genetic disease ISO RGD:1345250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957874 ZP4 zona pellucida glycoprotein 4 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1345250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 11957874 ZP4 zona pellucida glycoprotein 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11957893 PAX8 paired box 8 gene DOID:0050328 congenital hypothyroidism ISO RGD:730849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:16763387|PMID:25146893|PMID:26362610 11957893 PAX8 paired box 8 gene DOID:0070124 congenital nongoitrous hypothyroidism 2 ISO RGD:730849 D RGD:7240710 20180130 OMIM 11957893 PAX8 paired box 8 gene DOID:0070124 congenital nongoitrous hypothyroidism 2 ISO RGD:730849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia | ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2 PMID:11232006|PMID:11502839|PMID:12116225|PMID:15356023|PMID:15718293|PMID:17437516|PMID:17980011|PMID:20302910|PMID:23647375|PMID:25741868|PMID:28060725|PMID:28444304|PMID:28492532|PMID:29159607|PMID:30222900|PMID:9382140|PMID:9523167|PMID:9590296 11957893 PAX8 paired box 8 gene DOID:0080600 COVID-19 ISO RGD:730849 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11957893 PAX8 paired box 8 gene DOID:630 genetic disease ISO RGD:730849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28444304|PMID:28492532|PMID:29159607|PMID:30222900 11957893 PAX8 paired box 8 gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:730849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15785241 11957893 PAX8 paired box 8 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075790 11957893 PAX8 paired box 8 gene DOID:9970 obesity ISO RGD:730849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 11957919 TBX1 T-box transcription factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11957919 TBX1 T-box transcription factor 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1317100 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 11957919 TBX1 T-box transcription factor 1 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1317100 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 11957919 TBX1 T-box transcription factor 1 gene DOID:0111996 immunodeficiency 51 ISO RGD:1317100 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11957919 TBX1 T-box transcription factor 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1317100 D RGD:9068941 20221103 RGD DNA:frameshift mutation:CDS:p.G387AfsX73 (human) PMID:32110744|REF_RGD_ID:155641234 11957919 TBX1 T-box transcription factor 1 gene DOID:1059 intellectual disability ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11957919 TBX1 T-box transcription factor 1 gene DOID:10754 otitis media ISO RGD:1317101 D RGD:9068941 20220825 MouseDO OMIM:166760 11957919 TBX1 T-box transcription factor 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1317100 D RGD:7240710 20180130 OMIM 11957919 TBX1 T-box transcription factor 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1317100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge Syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:11239417|PMID:11242049|PMID:11748311|PMID:14585638|PMID:15060116|PMID:15355425|PMID:15703190|PMID:16199547|PMID:17273972|PMID:17576681|PMID:18375573|PMID:19948535|PMID:20937753|PMID:21921585|PMID:24033266|PMID:24637876|PMID:24826987|PMID:24998776|PMID:25205790|PMID:25516202|PMID:25741868|PMID:25860641|PMID:26467025|PMID:26805781|PMID:26805782|PMID:27879657|PMID:28272434|PMID:28492532|PMID:29250159|PMID:29500247|PMID:30007050|PMID:30245509|PMID:30773290|PMID:31690835|PMID:32110744|PMID:32581362|PMID:9536098 11957919 TBX1 T-box transcription factor 1 gene DOID:11199 hypoparathyroidism ISO RGD:1317100 D RGD:9068941 20221103 RGD DNA:frameshift mutation:CDS:p.G387AfsX73 (human) PMID:32110744|REF_RGD_ID:155641234 11957919 TBX1 T-box transcription factor 1 gene DOID:11372 megacolon ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11957919 TBX1 T-box transcription factor 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1317100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11957919 TBX1 T-box transcription factor 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:1317100 D RGD:7240710 20180418 OMIM 11957919 TBX1 T-box transcription factor 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Shprintzen VCF syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:11748311|PMID:15355425|PMID:16684884|PMID:17273972|PMID:18375573|PMID:25741868|PMID:28492532 11957919 TBX1 T-box transcription factor 1 gene DOID:12849 autistic disorder ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11957919 TBX1 T-box transcription factor 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 11957919 TBX1 T-box transcription factor 1 gene DOID:13994 cleidocranial dysplasia ISO RGD:1317101 D RGD:9068941 20221103 RGD PMID:25209980|REF_RGD_ID:155641242 11957919 TBX1 T-box transcription factor 1 gene DOID:14780 KBG syndrome ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: KBG syndrome 11957919 TBX1 T-box transcription factor 1 gene DOID:1657 ventricular septal defect ISO RGD:1317100 D RGD:9068941 20221103 RGD DNA:SNP:promoter:g.4199C>T (human) PMID:22801995|REF_RGD_ID:155631302 11957919 TBX1 T-box transcription factor 1 gene DOID:1682 congenital heart disease ISO RGD:1317100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17000704 11957919 TBX1 T-box transcription factor 1 gene DOID:1682 congenital heart disease ISO RGD:1317100 D RGD:9068941 20221103 RGD DNA:nonsense mutation:CDS:p.Q277X (human) PMID:25860641|REF_RGD_ID:11342394 11957919 TBX1 T-box transcription factor 1 gene DOID:1682 congenital heart disease ISO RGD:1317100 D RGD:9068941 20221103 RGD mRNA, protein:decreased expression:blood (human) PMID:29568912|REF_RGD_ID:155631308 11957919 TBX1 T-box transcription factor 1 gene DOID:1682 congenital heart disease ISO RGD:1317100 D RGD:9068941 20221110 RGD DNA:SNPs:intron 1: (rs5748417, rs5748418) (human) PMID:22185286|REF_RGD_ID:155663347 11957919 TBX1 T-box transcription factor 1 gene DOID:1682 congenital heart disease ISO RGD:1317100 D RGD:9068941 20221110 RGD DNA:missense mutation:CDS:p.P190Q (human) PMID:29596833|REF_RGD_ID:155663346 11957919 TBX1 T-box transcription factor 1 gene DOID:1826 epilepsy ISO RGD:1317100 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:26467025|PMID:28492532|PMID:30773290 11957919 TBX1 T-box transcription factor 1 gene DOID:2213 hemorrhagic disease ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 11957919 TBX1 T-box transcription factor 1 gene DOID:3021 acute kidney failure ISO RGD:1307734 D RGD:9068941 20230128 RGD mRNA:increased expression:kidney (rat) PMID:24817956|REF_RGD_ID:155882498 11957919 TBX1 T-box transcription factor 1 gene DOID:5419 schizophrenia ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11957919 TBX1 T-box transcription factor 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11957919 TBX1 T-box transcription factor 1 gene DOID:630 genetic disease ISO RGD:1317100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11957919 TBX1 T-box transcription factor 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1317100 D RGD:7240710 20180130 OMIM 11957919 TBX1 T-box transcription factor 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1317100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot PMID:11748311|PMID:15355425|PMID:18375573|PMID:19948535|PMID:24998776|PMID:25741868|PMID:28272434|PMID:28492532 11957919 TBX1 T-box transcription factor 1 gene DOID:674 cleft palate ISO RGD:1317101 D RGD:9068941 20221103 RGD PMID:25556186|PMID:30121012|REF_RGD_ID:155631306|REF_RGD_ID:155641231 11957919 TBX1 T-box transcription factor 1 gene DOID:9001460 22q11 Deletion Syndrome ISO RGD:1317101 D RGD:9068941 20221111 RGD PMID:16452092|REF_RGD_ID:155663362 11957919 TBX1 T-box transcription factor 1 gene DOID:9002156 Takao VCF Syndrome ISO RGD:1317100 D RGD:8554872 20220913 ClinVar ClinVar Annotator: match by term: Conotruncal anomaly face syndrome PMID:14585638|PMID:15703190|PMID:17273972 11957919 TBX1 T-box transcription factor 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1317055 D RGD:9068941 20221103 RGD PMID:21364285|REF_RGD_ID:11561941 11957919 TBX1 T-box transcription factor 1 gene DOID:9003483 Conductive Hearing Loss ISO RGD:1317101 D RGD:9068941 20221110 RGD DNA:missense mutation:CDS:p.W118R (mouse) PMID:28105375|REF_RGD_ID:155663349 11957919 TBX1 T-box transcription factor 1 gene DOID:9003871 Venous Thrombosis ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 11957919 TBX1 T-box transcription factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11957919 TBX1 T-box transcription factor 1 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1317100 D RGD:7240710 20180530 OMIM 11957919 TBX1 T-box transcription factor 1 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1317100 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal heart malformations PMID:11748311|PMID:14585638|PMID:15355425|PMID:15703190|PMID:17273972|PMID:17576681|PMID:18375573|PMID:25741868|PMID:28492532|PMID:9536098 11957919 TBX1 T-box transcription factor 1 gene DOID:9007661 Dwarfism ISO RGD:1317100 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11957919 TBX1 T-box transcription factor 1 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1317100 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11957919 TBX1 T-box transcription factor 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1317100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15190012|PMID:17000704 11957919 TBX1 T-box transcription factor 1 gene DOID:9009050 Hypocalcemia ISO RGD:1317100 D RGD:9068941 20221103 RGD DNA:frameshift mutation:CDS:p.G387AfsX73 (human) PMID:32110744|REF_RGD_ID:155641234 11957919 TBX1 T-box transcription factor 1 gene DOID:9408 acute myocardial infarction treatment ISO RGD:1307734 D RGD:9068941 20230128 RGD PMID:27422448|REF_RGD_ID:155882497 11957919 TBX1 T-box transcription factor 1 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome PMID:28492532 11957930 PSD3 pleckstrin and Sec7 domain containing 3 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1603689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 11957930 PSD3 pleckstrin and Sec7 domain containing 3 gene DOID:3070 high grade glioma ISO RGD:1603689 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16865689 11957930 PSD3 pleckstrin and Sec7 domain containing 3 gene DOID:630 genetic disease ISO RGD:1603689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957930 PSD3 pleckstrin and Sec7 domain containing 3 gene DOID:670 amphetamine abuse ISO RGD:1603689 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11957930 PSD3 pleckstrin and Sec7 domain containing 3 gene DOID:9006836 Contracture ISO RGD:1603689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures PMID:26752647 11957958 SLAMF1 signaling lymphocytic activation molecule family member 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1344109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11957958 SLAMF1 signaling lymphocytic activation molecule family member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1344109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11957958 SLAMF1 signaling lymphocytic activation molecule family member 1 gene DOID:630 genetic disease ISO RGD:1344109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957958 SLAMF1 signaling lymphocytic activation molecule family member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11957968 BEGAIN brain enriched guanylate kinase associated gene DOID:0080600 COVID-19 ISO RGD:731845 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11957968 BEGAIN brain enriched guanylate kinase associated gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:731845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 11957968 BEGAIN brain enriched guanylate kinase associated gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:731845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 11957968 BEGAIN brain enriched guanylate kinase associated gene DOID:630 genetic disease ISO RGD:731845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957968 BEGAIN brain enriched guanylate kinase associated gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:731845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11957978 KLRC4 killer cell lectin like receptor C4 gene DOID:13241 Behcet's disease ISO RGD:1342769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23291587 11957978 KLRC4 killer cell lectin like receptor C4 gene DOID:630 genetic disease ISO RGD:1342769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11957978 KLRC4 killer cell lectin like receptor C4 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1342769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18006695 11957994 CGRRF1 cell growth regulator with ring finger domain 1 gene DOID:0090043 dystonia 5 ISO RGD:733810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia 5 PMID:17111153|PMID:19332422|PMID:19491146|PMID:25557619|PMID:28492532|PMID:9667588 11957994 CGRRF1 cell growth regulator with ring finger domain 1 gene DOID:0111805 syndromic microphthalmia 6 ISO RGD:733810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies PMID:18252212|PMID:21340693|PMID:28492532 11957994 CGRRF1 cell growth regulator with ring finger domain 1 gene DOID:630 genetic disease ISO RGD:733810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11958007 ADA2 adenosine deaminase 2 gene DOID:0080600 COVID-19 ISO RGD:1353390 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11958007 ADA2 adenosine deaminase 2 gene DOID:0111996 immunodeficiency 51 ISO RGD:1353390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11958007 ADA2 adenosine deaminase 2 gene DOID:106 pleural tuberculosis treatment ISO RGD:1353390 D RGD:9068941 20220609 RGD PMID:8656037|REF_RGD_ID:152995258 11958007 ADA2 adenosine deaminase 2 gene DOID:12704 ataxia telangiectasia ISO RGD:1353390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Louis-Bar syndrome PMID:25741868|PMID:27884168|PMID:28492532 11958007 ADA2 adenosine deaminase 2 gene DOID:13096 Sneddon syndrome ISO RGD:1353390 D RGD:7240710 20180130 OMIM 11958007 ADA2 adenosine deaminase 2 gene DOID:13096 Sneddon syndrome ISO RGD:1353390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Idiopathic livedo reticularis with systemic involvement | ClinVar Annotator: match by term: Livedo reticularis and cerebrovascular accidents | ClinVar Annotator: match by term: Sneddon syndrome PMID:12804991|PMID:16199547|PMID:24552284|PMID:24552285|PMID:24737293|PMID:25075844|PMID:25075845|PMID:25075846|PMID:25075847|PMID:25083540|PMID:25278816|PMID:25457153|PMID:25741868|PMID:25888558|PMID:26131734|PMID:26867732|PMID:26914925|PMID:26922074|PMID:27059682|PMID:27252897|PMID:27514238|PMID:28492532|PMID:28493328|PMID:28522451|PMID:28830446|PMID:28974505|PMID:28983775|PMID:28993957|PMID:29391253|PMID:29391272|PMID:29600946|PMID:29951947|PMID:29963054|PMID:30647181|PMID:31008556|PMID:31043544|PMID:31291964|PMID:31393689|PMID:31584751|PMID:31617030|PMID:31652311|PMID:31856934|PMID:32353633|PMID:32531373|PMID:34324127 11958007 ADA2 adenosine deaminase 2 gene DOID:13241 Behcet's disease ISO RGD:1353390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Behcet's syndrome PMID:25741868|PMID:28492532|PMID:28814775|PMID:29681619 11958007 ADA2 adenosine deaminase 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1353390 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:24552284|PMID:24552285|PMID:25075844|PMID:25075845|PMID:25075846|PMID:25083540|PMID:25278816|PMID:25457153|PMID:25741868|PMID:25888558|PMID:26867732|PMID:26914925|PMID:26922074|PMID:27059682|PMID:27252897|PMID:28492532|PMID:28493328|PMID:28522451|PMID:28814775|PMID:28830446|PMID:28983775|PMID:28993957|PMID:29391253|PMID:29391272|PMID:29951947|PMID:31393689 11958007 ADA2 adenosine deaminase 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1353390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:24552284|PMID:24552285|PMID:24737293|PMID:25075844|PMID:25075845|PMID:25075846|PMID:25083540|PMID:25278816|PMID:25457153|PMID:25741868|PMID:25888558|PMID:26867732|PMID:26914925|PMID:26922074|PMID:27059682|PMID:27252897|PMID:27884168|PMID:28492532|PMID:28493328|PMID:28522451|PMID:28814775|PMID:28830446|PMID:28983775|PMID:28993957|PMID:29391253|PMID:29391272|PMID:29951947|PMID:30503522|PMID:30783801|PMID:31008556|PMID:31291964|PMID:31393689|PMID:31584751|PMID:31945408|PMID:32888943 11958007 ADA2 adenosine deaminase 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1353390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:24552284|PMID:24552285|PMID:24737293|PMID:25075844|PMID:25075845|PMID:25075846|PMID:25083540|PMID:25278816|PMID:25457153|PMID:25741868|PMID:25888558|PMID:26867732|PMID:26914925|PMID:26922074|PMID:27059682|PMID:27252897|PMID:28492532|PMID:28493328|PMID:28522451|PMID:28814775|PMID:28830446|PMID:28983775|PMID:28993957|PMID:29391253|PMID:29391272|PMID:29951947|PMID:30503522|PMID:30783801|PMID:31008556|PMID:31291964|PMID:31393689|PMID:31584751|PMID:31945408|PMID:32888943 11958007 ADA2 adenosine deaminase 2 gene DOID:2957 pulmonary tuberculosis ISO RGD:1353390 D RGD:9068941 20220610 RGD protein:increased activity:sputum: PMID:19460251|REF_RGD_ID:152995271 11958007 ADA2 adenosine deaminase 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1353390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:24552284|PMID:24552285|PMID:25075845|PMID:25075846|PMID:25083540|PMID:25457153|PMID:25741868|PMID:25888558|PMID:26131734|PMID:26867732|PMID:26922074|PMID:28492532|PMID:28493328|PMID:28974505|PMID:28993957|PMID:29391253|PMID:31393689|PMID:32353633 11958007 ADA2 adenosine deaminase 2 gene DOID:9002268 Hand and Foot Deformity with Flat Facies ISO RGD:1353390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hand and foot deformity with flat facies PMID:16199547|PMID:24552284|PMID:24552285|PMID:25741868|PMID:28492532|PMID:28493328|PMID:29391253|PMID:29963054|PMID:31393689|PMID:31617030|PMID:31856934 11958007 ADA2 adenosine deaminase 2 gene DOID:9002720 Splenomegaly ISO RGD:1353390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Enlarged Spleen PMID:24552284|PMID:24552285|PMID:25741868|PMID:27514238|PMID:28492532 11958007 ADA2 adenosine deaminase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11958007 ADA2 adenosine deaminase 2 gene DOID:9007096 Stroke ISO RGD:1353390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stroke PMID:12804991|PMID:25075847|PMID:25741868|PMID:28492532|PMID:28522451|PMID:30647181|PMID:31393689 11958007 ADA2 adenosine deaminase 2 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1353390 D RGD:7240710 20180130 OMIM 11958007 ADA2 adenosine deaminase 2 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1353390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:12804991|PMID:16199547|PMID:17576681|PMID:22929023|PMID:24033266|PMID:24552284|PMID:24552285|PMID:24737293|PMID:25075844|PMID:25075845|PMID:25075846|PMID:25075847|PMID:25083540|PMID:25278816|PMID:25457153|PMID:25741868|PMID:25888558|PMID:26131734|PMID:26607704|PMID:26867732|PMID:26914925|PMID:26922074|PMID:27059682|PMID:27252897|PMID:27514238|PMID:27930337|PMID:28492532|PMID:28493328|PMID:28522451|PMID:28665179|PMID:28750028|PMID:28805790|PMID:28814775|PMID:28830446|PMID:28974505|PMID:28983775|PMID:28993957|PMID:29271561|PMID:29391253|PMID:29391272|PMID:29600946|PMID:29681619|PMID:29951947|PMID:29963054|PMID:30503522|PMID:30647181|PMID:30692987|PMID:30783801|PMID:31008556|PMID:31015188|PMID:31043544|PMID:31291964|PMID:31393689|PMID:31584751|PMID:31617030|PMID:31652311|PMID:31686313|PMID:31856934|PMID:31945408|PMID:32353633|PMID:32531373|PMID:32643137|PMID:32888943|PMID:33529688|PMID:34324127|PMID:34577178|PMID:9536098 11958007 ADA2 adenosine deaminase 2 gene DOID:9810 polyarteritis nodosa ISO RGD:1353390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa PMID:25741868 11958043 EIF4E2 eukaryotic translation initiation factor 4E family member 2 gene DOID:0060476 Perlman syndrome ISO RGD:1348644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11958043 EIF4E2 eukaryotic translation initiation factor 4E family member 2 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1348644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11958043 EIF4E2 eukaryotic translation initiation factor 4E family member 2 gene DOID:630 genetic disease ISO RGD:1348644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11958067 BCL2L14 BCL2 like 14 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1603380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 11958067 BCL2L14 BCL2 like 14 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1603380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 11958067 BCL2L14 BCL2 like 14 gene DOID:10286 prostate carcinoma ISO RGD:1603380 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland PMID:14999772|REF_RGD_ID:2315712 11958067 BCL2L14 BCL2 like 14 gene DOID:630 genetic disease ISO RGD:1603380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11958086 NKX6-3 NK6 homeobox 3 gene DOID:630 genetic disease ISO RGD:1605569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11958135 VPS37A VPS37A subunit of ESCRT-I gene DOID:0080743 transverse myelitis ISO RGD:1604528 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Idiopathic transverse myelitis PMID:25741868|PMID:28492532|PMID:29473047 11958135 VPS37A VPS37A subunit of ESCRT-I gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1604528 D RGD:7240710 20180130 OMIM 11958135 VPS37A VPS37A subunit of ESCRT-I gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1604528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:16199547|PMID:17576681|PMID:22717650|PMID:25741868|PMID:28492532|PMID:29473047|PMID:9536098 11958135 VPS37A VPS37A subunit of ESCRT-I gene DOID:2476 hereditary spastic paraplegia ISO RGD:1604528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 11958135 VPS37A VPS37A subunit of ESCRT-I gene DOID:630 genetic disease ISO RGD:1604528 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11958166 CAPN15 calpain 15 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1315174 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11958166 CAPN15 calpain 15 gene DOID:12270 coloboma ISO RGD:1315174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:25741868 11958166 CAPN15 calpain 15 gene DOID:1826 epilepsy ISO RGD:1315174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 11958166 CAPN15 calpain 15 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1315174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11958166 CAPN15 calpain 15 gene DOID:630 genetic disease ISO RGD:1315174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11958166 CAPN15 calpain 15 gene DOID:9001664 OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME ISO RGD:1315174 D RGD:7240710 20210623 OMIM 11958166 CAPN15 calpain 15 gene DOID:9001664 OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME ISO RGD:1315174 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oculogastrointestinal-neurodevelopmental syndrome PMID:25741868|PMID:32885237|PMID:33410501 11958187 TMEM123 transmembrane protein 123 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1605596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 11958187 TMEM123 transmembrane protein 123 gene DOID:0080600 COVID-19 ISO RGD:1605596 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11958187 TMEM123 transmembrane protein 123 gene DOID:1059 intellectual disability ISO RGD:1605596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11958187 TMEM123 transmembrane protein 123 gene DOID:12704 ataxia telangiectasia ISO RGD:1605596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11958187 TMEM123 transmembrane protein 123 gene DOID:630 genetic disease ISO RGD:1605596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11958196 SLC5A1 solute carrier family 5 member 1 gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:732146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 11958196 SLC5A1 solute carrier family 5 member 1 gene DOID:630 genetic disease ISO RGD:732146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11958196 SLC5A1 solute carrier family 5 member 1 gene DOID:9001750 Glucose-Galactose Malabsorption ISO RGD:732146 D RGD:7240710 20180130 OMIM 11958196 SLC5A1 solute carrier family 5 member 1 gene DOID:9001750 Glucose-Galactose Malabsorption ISO RGD:732146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital glucose-galactose malabsorption PMID:10036327|PMID:12139397|PMID:14673631|PMID:16199547|PMID:17576681|PMID:17903058|PMID:19167319|PMID:2008213|PMID:20486940|PMID:22314875|PMID:24033266|PMID:24048166|PMID:25741868|PMID:28152538|PMID:28283348|PMID:28492532|PMID:28753187|PMID:30656007|PMID:8563765|PMID:8844006|PMID:9309206|PMID:9536098|PMID:9815014 11958196 SLC5A1 solute carrier family 5 member 1 gene DOID:9002984 Malabsorption Syndromes ISO RGD:732146 D RGD:9068941 20200609 RGD glucose/galactose malabsorption,OMIM:606824;DNA:point mutation:exon:D28N PMID:2008213|REF_RGD_ID:1624257 11958218 RYR2 ryanodine receptor 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1317019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:11159936|PMID:12093772|PMID:12459180|PMID:16769042|PMID:18326664|PMID:19709828|PMID:19926015|PMID:21315846|PMID:22677073|PMID:22787013|PMID:23757202|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24447446|PMID:24558114|PMID:24981977|PMID:25351510|PMID:25467552|PMID:25637381|PMID:25741868|PMID:25925909|PMID:26112015|PMID:26189708|PMID:27646203|PMID:27650965|PMID:28087566|PMID:28150229|PMID:28404607|PMID:28492532|PMID:28771489|PMID:29477366|PMID:29874177|PMID:31112425|PMID:31337358|PMID:31931689|PMID:32233023 11958218 RYR2 ryanodine receptor 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy susceptibility ISO RGD:1317019 D RGD:9068941 20200609 RGD PMID:11159936|REF_RGD_ID:1599243 11958218 RYR2 ryanodine receptor 2 gene DOID:0050451 Brugada syndrome ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 11958218 RYR2 ryanodine receptor 2 gene DOID:0050700 cardiomyopathy ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12837242|PMID:15197150|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15749201|PMID:15887426|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16436635|PMID:16769042|PMID:16843546|PMID:17062961|PMID:17558603|PMID:17576681|PMID:18092949|PMID:18326664|PMID:18752142|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19926015|PMID:20157052|PMID:20851825|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23595086|PMID:23651034|PMID:23757202|PMID:23820649|PMID:23861362|PMID:23871484|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25351510|PMID:25440180|PMID:25467552|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26230511|PMID:26272908|PMID:26332594|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27435932|PMID:27532257|PMID:27538377|PMID:27650965|PMID:27727376|PMID:27756708|PMID:27854218|PMID:27930701|PMID:28074886|PMID:28100344|PMID:28125075|PMID:28150229|PMID:28166811|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28686619|PMID:28697927|PMID:28771489|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29037160|PMID:29247119|PMID:29368431|PMID:29396286|PMID:29434162|PMID:29453246|PMID:29511324|PMID:29544605|PMID:29555771|PMID:29874177|PMID:29915097|PMID:30029678|PMID:30086531|PMID:30403697|PMID:30615648|PMID:30670673|PMID:30835254|PMID:30847666|PMID:31112425|PMID:31333075|PMID:31337358|PMID:31535183|PMID:31568572|PMID:31737537|PMID:31847883|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32899693|PMID:9536098 11958218 RYR2 ryanodine receptor 2 gene DOID:0050700 cardiomyopathy ISO RGD:1317019 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy with or without skeletal myopathy PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12837242|PMID:15197150|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15749201|PMID:15887426|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16436635|PMID:16769042|PMID:16818210|PMID:16843546|PMID:17062961|PMID:17558603|PMID:17576681|PMID:18092949|PMID:18326664|PMID:18752142|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19926015|PMID:20157052|PMID:20851825|PMID:21315846|PMID:21478052|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23595086|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25351510|PMID:25440180|PMID:25467552|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26272908|PMID:26332594|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27435932|PMID:27532257|PMID:27538377|PMID:27650965|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28074886|PMID:28100344|PMID:28125075|PMID:28150229|PMID:28166282|PMID:28166811|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28359509|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28686619|PMID:28697927|PMID:28771489|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29368431|PMID:29396286|PMID:29434162|PMID:29453246|PMID:29511324|PMID:29544605|PMID:29555771|PMID:29874177|PMID:30086531|PMID:30403697|PMID:30835254|PMID:30847666|PMID:31112425|PMID:31333075|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31847883|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:34088380|PMID:9536098 11958218 RYR2 ryanodine receptor 2 gene DOID:0050700 cardiomyopathy ISO RGD:1317019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Hypokinetic non-dilated cardiomyopathy PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12459180|PMID:12837242|PMID:15197150|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15749201|PMID:15887426|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16436635|PMID:16769042|PMID:16818210|PMID:16843546|PMID:17062961|PMID:17558603|PMID:17576681|PMID:18092949|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20132818|PMID:20157052|PMID:20851825|PMID:21315846|PMID:21478052|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25351510|PMID:25370123|PMID:25440180|PMID:25467552|PMID:25500949|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26771585|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27435932|PMID:27452199|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29037160|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29766881|PMID:29874177|PMID:29915097|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30029678|PMID:30086531|PMID:30403697|PMID:30471092|PMID:30615648|PMID:30670673|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31231889|PMID:31333075|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31535183|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31847883|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32165824|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33658040|PMID:33664309|PMID:33825858|PMID:33897349|PMID:33919104|PMID:34088380|PMID:34546463|PMID:35353122|PMID:35819174|PMID:35932045|PMID:9536098 11958218 RYR2 ryanodine receptor 2 gene DOID:0050700 cardiomyopathy ISO RGD:1317019 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12459180|PMID:12837242|PMID:15197150|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15749201|PMID:15887426|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16436635|PMID:16769042|PMID:16818210|PMID:16843546|PMID:17062961|PMID:17558603|PMID:17576681|PMID:18092949|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20132818|PMID:20157052|PMID:20851825|PMID:21315846|PMID:21478052|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25351510|PMID:25370123|PMID:25440180|PMID:25467552|PMID:25500949|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26771585|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27435932|PMID:27452199|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29037160|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29766881|PMID:29874177|PMID:29915097|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30029678|PMID:30086531|PMID:30403697|PMID:30471092|PMID:30615648|PMID:30670673|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31231889|PMID:31333075|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31535183|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31847883|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33658040|PMID:33664309|PMID:33825858|PMID:33897349|PMID:33919104|PMID:34088380|PMID:34546463|PMID:35353122|PMID:35819174|PMID:35932045|PMID:9536098 11958218 RYR2 ryanodine receptor 2 gene DOID:0050700 cardiomyopathy ISO RGD:1317019 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12169647|PMID:12459180|PMID:12837242|PMID:12919952|PMID:15197150|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16339485|PMID:16436635|PMID:16769042|PMID:16818210|PMID:16843546|PMID:17062961|PMID:17558603|PMID:17576681|PMID:18092949|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20080988|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20538074|PMID:20851825|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25351510|PMID:25370123|PMID:25440180|PMID:25467552|PMID:25500949|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26666913|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26771585|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27435932|PMID:27452199|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29037160|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544603|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29766881|PMID:29874177|PMID:29915097|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30029678|PMID:30086531|PMID:30403697|PMID:30471092|PMID:30615648|PMID:30670673|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31019283|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31195250|PMID:31231889|PMID:31333075|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31535183|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31847883|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33658040|PMID:33664309|PMID:33789662|PMID:33825858|PMID:33897349|PMID:33919104|PMID:34088380|PMID:34546463|PMID:35353122|PMID:35668055|PMID:35819174|PMID:35932045|PMID:9536098 11958218 RYR2 ryanodine receptor 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1317019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21151189 11958218 RYR2 ryanodine receptor 2 gene DOID:0060319 cardiac arrest ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest 11958218 RYR2 ryanodine receptor 2 gene DOID:0060480 left ventricular noncompaction ISO RGD:1317019 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:18752142|PMID:19926015|PMID:23022705|PMID:24025405|PMID:24033266|PMID:24631775|PMID:25741868|PMID:27538377|PMID:28404607|PMID:28492532 11958218 RYR2 ryanodine receptor 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1317019 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Catecholamine-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:11157710|PMID:11159936|PMID:11208676|PMID:11389482|PMID:12093772|PMID:12106942|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15131021|PMID:15197150|PMID:15364606|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16084945|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16272262|PMID:16391617|PMID:16436635|PMID:16517285|PMID:16769042|PMID:16818210|PMID:16843546|PMID:16873551|PMID:17062961|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18752142|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19541610|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20106799|PMID:20157052|PMID:20851825|PMID:20961976|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21645850|PMID:21652165|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22068070|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:22828895|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23479668|PMID:23549275|PMID:23595086|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:23973953|PMID:23978697|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24147812|PMID:24394973|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24728420|PMID:24743769|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25440180|PMID:25445213|PMID:25467552|PMID:25554238|PMID:25616645|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25713214|PMID:25741868|PMID:25814417|PMID:25820315|PMID:25835811|PMID:25844899|PMID:25925909|PMID:26018045|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26272908|PMID:26332594|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27733687|PMID:27756708|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28166282|PMID:28166811|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28359509|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28771489|PMID:28798025|PMID:28807990|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29368431|PMID:29396286|PMID:29434162|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29555771|PMID:29874177|PMID:29951146|PMID:30086531|PMID:30197081|PMID:30403697|PMID:30453078|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31112425|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31737537|PMID:31847883|PMID:31875585|PMID:31913406|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33536282|PMID:33686871|PMID:33825858|PMID:34088380|PMID:9536098 11958218 RYR2 ryanodine receptor 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1317019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Catecholamine-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:11389482|PMID:12093772|PMID:12106942|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15131021|PMID:15197150|PMID:15364606|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16084945|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16272262|PMID:16391617|PMID:16436635|PMID:16517285|PMID:16769042|PMID:16818210|PMID:16843546|PMID:16873551|PMID:17062961|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19541610|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20106799|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20646679|PMID:20851825|PMID:20961976|PMID:21048710|PMID:21292648|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21645850|PMID:21652165|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22068070|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:22828895|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23479668|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:23973953|PMID:23978697|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24147812|PMID:24394973|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24728420|PMID:24743769|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25370123|PMID:25372681|PMID:25440180|PMID:25445213|PMID:25467552|PMID:25554238|PMID:25616645|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25713214|PMID:25730765|PMID:25741868|PMID:25814417|PMID:25820315|PMID:25835811|PMID:25844899|PMID:25901278|PMID:25925909|PMID:26018045|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27733687|PMID:27756708|PMID:27838126|PMID:27854218|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28166282|PMID:28166811|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28359509|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28606196|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28807990|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29874177|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30086531|PMID:30197081|PMID:30355031|PMID:30403697|PMID:30453078|PMID:30471092|PMID:30615648|PMID:30696458|PMID:30763784|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31057083|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31231889|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31539150|PMID:31737537|PMID:31847883|PMID:31875585|PMID:31913406|PMID:31970460|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33536282|PMID:33686871|PMID:33825858|PMID:33919104|PMID:34088380|PMID:34546463|PMID:35353122|PMID:35470680|PMID:35819174|PMID:9536098 11958218 RYR2 ryanodine receptor 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1317019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholamine-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:11389482|PMID:12093772|PMID:12106942|PMID:12169647|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15131021|PMID:15364606|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16084945|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16272262|PMID:16339485|PMID:16391617|PMID:16436635|PMID:16517285|PMID:16769042|PMID:16818210|PMID:16873551|PMID:17062961|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19541610|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20080988|PMID:20106799|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20538074|PMID:20646679|PMID:20851825|PMID:20961976|PMID:21048710|PMID:21292648|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21645850|PMID:21659649|PMID:21954897|PMID:21964171|PMID:22068070|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22383456|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:22828895|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23479668|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23820649|PMID:23861362|PMID:23871484|PMID:23978697|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24394973|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24728420|PMID:24743769|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25370123|PMID:25372681|PMID:25440180|PMID:25445213|PMID:25467552|PMID:25554238|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25713214|PMID:25730765|PMID:25741868|PMID:25814417|PMID:25835811|PMID:25844899|PMID:25901278|PMID:25925909|PMID:26018045|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26666913|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27733687|PMID:27756708|PMID:27838126|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28606196|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29766881|PMID:29874177|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30197081|PMID:30355031|PMID:30403697|PMID:30471092|PMID:30615648|PMID:30763784|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31231889|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31539150|PMID:31737537|PMID:31847883|PMID:31875585|PMID:31913406|PMID:31931689|PMID:31970460|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32165824|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33825858|PMID:33919104|PMID:34088380|PMID:34546463|PMID:34730774|PMID:35353122|PMID:35470680|PMID:35819174|PMID:35932045|PMID:9536098 11958218 RYR2 ryanodine receptor 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1317019 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:11389482|PMID:12093772|PMID:12106942|PMID:12169647|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15131021|PMID:15364606|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16084945|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16272262|PMID:16339485|PMID:16391617|PMID:16436635|PMID:16517285|PMID:16769042|PMID:16818210|PMID:16873551|PMID:17062961|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19541610|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20080988|PMID:20106799|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20538074|PMID:20646679|PMID:20851825|PMID:20961976|PMID:21048710|PMID:21292648|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21645850|PMID:21659649|PMID:21954897|PMID:21964171|PMID:22068070|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22383456|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:22828895|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23479668|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23820649|PMID:23861362|PMID:23871484|PMID:23978697|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24394973|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24728420|PMID:24743769|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25370123|PMID:25372681|PMID:25440180|PMID:25445213|PMID:25467552|PMID:25554238|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25730765|PMID:25741868|PMID:25814417|PMID:25835811|PMID:25844899|PMID:25901278|PMID:25925909|PMID:26018045|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26666913|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27733687|PMID:27756708|PMID:27838126|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28606196|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29766881|PMID:29874177|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30197081|PMID:30355031|PMID:30403697|PMID:30471092|PMID:30615648|PMID:30763784|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31231889|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31539150|PMID:31737537|PMID:31847883|PMID:31875585|PMID:31913406|PMID:31931689|PMID:31970460|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33825858|PMID:33919104|PMID:34088380|PMID:34546463|PMID:34730774|PMID:35353122|PMID:35470680|PMID:35819174|PMID:35932045|PMID:9536098 11958218 RYR2 ryanodine receptor 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1317019 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:11389482|PMID:12093772|PMID:12106942|PMID:12169647|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15131021|PMID:15364606|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16084945|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16272262|PMID:16339485|PMID:16391617|PMID:16436635|PMID:16517285|PMID:16769042|PMID:16818210|PMID:16873551|PMID:17062961|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19541610|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20080988|PMID:20106799|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20538074|PMID:20646679|PMID:20851825|PMID:20961976|PMID:21048710|PMID:21270786|PMID:21292648|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21645850|PMID:21659649|PMID:21954897|PMID:21964171|PMID:22068070|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22383456|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:22828895|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23479668|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23820649|PMID:23861362|PMID:23871484|PMID:23978697|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24394973|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24728420|PMID:24743769|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25370123|PMID:25372681|PMID:25440180|PMID:25445213|PMID:25467552|PMID:25554238|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25730765|PMID:25741868|PMID:25814417|PMID:25835811|PMID:25844899|PMID:25901278|PMID:25925909|PMID:25974703|PMID:26018045|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26666913|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27733687|PMID:27756708|PMID:27838126|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28606196|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29543670|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29766881|PMID:29874177|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30197081|PMID:30355031|PMID:30403697|PMID:30471092|PMID:30615648|PMID:30763784|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31231889|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31539150|PMID:31737537|PMID:31847883|PMID:31875585|PMID:31913406|PMID:31931689|PMID:31970460|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33825858|PMID:33919104|PMID:34088380|PMID:34546463|PMID:34730774|PMID:35353122|PMID:35470680|PMID:35819174|PMID:35932045|PMID:9536098 11958218 RYR2 ryanodine receptor 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1317019 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:11389482|PMID:12093772|PMID:12106942|PMID:12169647|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15131021|PMID:15364606|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16084945|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16272262|PMID:16339485|PMID:16391617|PMID:16436635|PMID:16517285|PMID:16769042|PMID:16818210|PMID:16873551|PMID:17062961|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19541610|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20080988|PMID:20106799|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20538074|PMID:20646679|PMID:20851825|PMID:20961976|PMID:21048710|PMID:21292648|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21645850|PMID:21659649|PMID:21954897|PMID:21964171|PMID:22068070|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22383456|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:22828895|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23479668|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23820649|PMID:23861362|PMID:23871484|PMID:23978697|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24394973|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24728420|PMID:24743769|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25370123|PMID:25372681|PMID:25440180|PMID:25445213|PMID:25467552|PMID:25554238|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25730765|PMID:25741868|PMID:25814417|PMID:25835811|PMID:25844899|PMID:25901278|PMID:25925909|PMID:26018045|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26666913|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27733687|PMID:27756708|PMID:27838126|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28606196|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29543670|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29766881|PMID:29874177|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30197081|PMID:30355031|PMID:30403697|PMID:30471092|PMID:30615648|PMID:30763784|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31195250|PMID:31231889|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31539150|PMID:31737537|PMID:31847883|PMID:31875585|PMID:31913406|PMID:31931689|PMID:31970460|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33789662|PMID:33825858|PMID:33919104|PMID:34088380|PMID:34546463|PMID:34691145|PMID:34730774|PMID:35353122|PMID:35470680|PMID:35668055|PMID:35819174|PMID:35932045|PMID:9536098 11958218 RYR2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:7240710 20180130 OMIM 11958218 RYR2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15197150|PMID:15466642|PMID:15721128|PMID:15749201|PMID:15890976|PMID:16188589|PMID:16239587|PMID:16272262|PMID:16436635|PMID:16769042|PMID:16843546|PMID:16873551|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18752142|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19926015|PMID:20106799|PMID:20157052|PMID:20851825|PMID:21315846|PMID:21454795|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22222782|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23098067|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23595086|PMID:23810894|PMID:23820649|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25092222|PMID:25163546|PMID:25194972|PMID:25351510|PMID:25467552|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26899768|PMID:27054166|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28100344|PMID:28125075|PMID:28150229|PMID:28166811|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28492532|PMID:28567303|PMID:28620067|PMID:28807990|PMID:28988457|PMID:29247119|PMID:29396286|PMID:29434162|PMID:29453246|PMID:29511324|PMID:29544605|PMID:29874177|PMID:30086531|PMID:30403697|PMID:30835254|PMID:30847666|PMID:31112425|PMID:31337358|PMID:31402444|PMID:31847883|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32899693|PMID:9536098 11958218 RYR2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15197150|PMID:15466642|PMID:15721128|PMID:15749201|PMID:15890976|PMID:16188589|PMID:16239587|PMID:16272262|PMID:16436635|PMID:16769042|PMID:16843546|PMID:16873551|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18752142|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19926015|PMID:20106799|PMID:20157052|PMID:20851825|PMID:21315846|PMID:21454795|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22222782|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23595086|PMID:23810894|PMID:23820649|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25092222|PMID:25163546|PMID:25194972|PMID:25351510|PMID:25467552|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26899768|PMID:27054166|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28100344|PMID:28125075|PMID:28150229|PMID:28166811|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28620067|PMID:28807990|PMID:28988457|PMID:29396286|PMID:29453246|PMID:29511324|PMID:29544605|PMID:29874177|PMID:29951146|PMID:30086531|PMID:30403697|PMID:30835254|PMID:30847666|PMID:31112425|PMID:31337358|PMID:31402444|PMID:31847883|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32746448|PMID:32899693|PMID:33686871|PMID:9536098 11958218 RYR2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15197150|PMID:15466642|PMID:15721128|PMID:15749201|PMID:15890976|PMID:16188589|PMID:16239587|PMID:16272262|PMID:16436635|PMID:16769042|PMID:16843546|PMID:16873551|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18752142|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19926015|PMID:20106799|PMID:20157052|PMID:20851825|PMID:21315846|PMID:21454795|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22221940|PMID:22222782|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23810894|PMID:23820649|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25092222|PMID:25163546|PMID:25194972|PMID:25351510|PMID:25467552|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26899768|PMID:27054166|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28100344|PMID:28125075|PMID:28150229|PMID:28166811|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28620067|PMID:28807990|PMID:28988457|PMID:29396286|PMID:29434162|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29874177|PMID:29951146|PMID:30086531|PMID:30403697|PMID:30835254|PMID:30847666|PMID:31112425|PMID:31337358|PMID:31402444|PMID:31847883|PMID:31875585|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33686871|PMID:9536098 11958218 RYR2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15197150|PMID:15466642|PMID:15721128|PMID:15749201|PMID:15890976|PMID:16188589|PMID:16239587|PMID:16272262|PMID:16436635|PMID:16769042|PMID:16843546|PMID:16873551|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18752142|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19926015|PMID:20106799|PMID:20157052|PMID:20301466|PMID:20851825|PMID:21315846|PMID:21454795|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22221940|PMID:22222782|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23810894|PMID:23820649|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25092222|PMID:25163546|PMID:25194972|PMID:25351510|PMID:25467552|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26899768|PMID:27054166|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28100344|PMID:28125075|PMID:28150229|PMID:28166811|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28620067|PMID:28807990|PMID:28988457|PMID:29396286|PMID:29434162|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29874177|PMID:29951146|PMID:30086531|PMID:30403697|PMID:30835254|PMID:30847666|PMID:31112425|PMID:31337358|PMID:31402444|PMID:31847883|PMID:31875585|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33686871|PMID:9536098 11958218 RYR2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15197150|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15890976|PMID:16188589|PMID:16239587|PMID:16272262|PMID:16436635|PMID:16769042|PMID:16843546|PMID:16873551|PMID:17062961|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18752142|PMID:18849218|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:1992601|PMID:19926015|PMID:20106799|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20851825|PMID:21315846|PMID:21454795|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21954897|PMID:21964171|PMID:22068070|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22677073|PMID:22787013|PMID:22956155|PMID:23022705|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23671135|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25370123|PMID:25440180|PMID:25467552|PMID:25554238|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25741868|PMID:25814417|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26498160|PMID:26656175|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27251404|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27756708|PMID:27838126|PMID:27854218|PMID:27930701|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28166811|PMID:28191890|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28620067|PMID:28771489|PMID:28789916|PMID:28798025|PMID:28807990|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29434162|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29568272|PMID:29874177|PMID:29951146|PMID:30086531|PMID:30355031|PMID:30403697|PMID:30615648|PMID:30696458|PMID:30763784|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31057083|PMID:31112425|PMID:31231889|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31737537|PMID:31847883|PMID:31875585|PMID:31931689|PMID:31970460|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33536282|PMID:33686871|PMID:33919104|PMID:9536098 11958218 RYR2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12169647|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15131021|PMID:15175054|PMID:15197150|PMID:15364606|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16084945|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16272262|PMID:16339485|PMID:16391617|PMID:16436635|PMID:16517285|PMID:16769042|PMID:16818210|PMID:16843546|PMID:16873551|PMID:17062961|PMID:17556193|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18483626|PMID:18752142|PMID:18836296|PMID:18849218|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19330009|PMID:19398665|PMID:19541610|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:1992601|PMID:19926015|PMID:20080988|PMID:20106799|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20538074|PMID:20646679|PMID:20851825|PMID:20961976|PMID:21048710|PMID:21126784|PMID:21292648|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21652165|PMID:21659649|PMID:21768539|PMID:21954897|PMID:21964171|PMID:22068070|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22383456|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:22828895|PMID:22956155|PMID:23022705|PMID:23098067|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:23934111|PMID:23973953|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24113177|PMID:24136861|PMID:24147812|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24793461|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25370123|PMID:25372681|PMID:25440180|PMID:25467552|PMID:25500949|PMID:25554238|PMID:25616645|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25713214|PMID:25730765|PMID:25741868|PMID:25814417|PMID:25820315|PMID:25844899|PMID:25901278|PMID:25925909|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26230511|PMID:26256814|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26573135|PMID:26656175|PMID:26666913|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27251404|PMID:27332903|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27733687|PMID:27756708|PMID:27838126|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28191890|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28606196|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28789916|PMID:28790152|PMID:28798025|PMID:28807990|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29037160|PMID:29132927|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29543670|PMID:29544603|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29668588|PMID:29766881|PMID:29874177|PMID:29915097|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30029678|PMID:30086531|PMID:30197081|PMID:30296944|PMID:30355031|PMID:30403697|PMID:30453078|PMID:30471092|PMID:30615648|PMID:30670673|PMID:30696458|PMID:30763784|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31019283|PMID:31057083|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31195250|PMID:31231889|PMID:31333075|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31535183|PMID:31539150|PMID:31568572|PMID:31624606|PMID:31737537|PMID:31847883|PMID:31875585|PMID:31913406|PMID:31931689|PMID:31970460|PMID:32009526 11958218 RYR2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32516855|PMID:32746448|PMID:32899693|PMID:33325730|PMID:33500567|PMID:33536282|PMID:33658040|PMID:33664309|PMID:33686871|PMID:33789662|PMID:33825858|PMID:33897349|PMID:33919104|PMID:34088380|PMID:34546463|PMID:34691145|PMID:34730774|PMID:35353122|PMID:35470680|PMID:35668055|PMID:35819174|PMID:35932045|PMID:8589694|PMID:9536098 11958218 RYR2 ryanodine receptor 2 gene DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 ISO RGD:1317019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 11958218 RYR2 ryanodine receptor 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1317019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:19216760|PMID:19926015|PMID:20132818|PMID:23861362|PMID:24033266|PMID:25041964|PMID:25163546|PMID:25650408|PMID:25741868|PMID:25925909|PMID:26656175|PMID:27054166|PMID:27930701|PMID:28341588|PMID:28404607|PMID:28492532|PMID:29032884|PMID:30847666|PMID:32152366 11958218 RYR2 ryanodine receptor 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1317019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:12459180|PMID:19216760|PMID:19926015|PMID:20132818|PMID:22787013|PMID:23861362|PMID:24033266|PMID:25041964|PMID:25163546|PMID:25650408|PMID:25741868|PMID:25925909|PMID:26656175|PMID:27054166|PMID:27646203|PMID:27756708|PMID:27930701|PMID:28341588|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29350269|PMID:29477366|PMID:30847666|PMID:32152366 11958218 RYR2 ryanodine receptor 2 gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:1317019 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:25637381|PMID:25741868|PMID:28404607|PMID:28492532|PMID:30847666 11958218 RYR2 ryanodine receptor 2 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:25741868 11958218 RYR2 ryanodine receptor 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:12459180|PMID:19216760|PMID:19926015|PMID:20132818|PMID:22787013|PMID:23861362|PMID:24033266|PMID:25650408|PMID:25741868|PMID:26656175|PMID:27054166|PMID:27646203|PMID:27930701|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29350269|PMID:29477366 11958218 RYR2 ryanodine receptor 2 gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 11958218 RYR2 ryanodine receptor 2 gene DOID:0110428 dilated cardiomyopathy 1AA ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:28492532 11958218 RYR2 ryanodine receptor 2 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:26132555|PMID:28492532 11958218 RYR2 ryanodine receptor 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:25741868|PMID:28492532 11958218 RYR2 ryanodine receptor 2 gene DOID:114 heart disease ISO RGD:1317019 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart disease PMID:17576681|PMID:25741868|PMID:28404607|PMID:28492532|PMID:9536098 11958218 RYR2 ryanodine receptor 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:12459180|PMID:18752142|PMID:19926015|PMID:22787013|PMID:23022705|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24631775|PMID:25041964|PMID:25650408|PMID:25741868|PMID:25925909|PMID:26656175|PMID:27054166|PMID:27538377|PMID:27646203|PMID:27930701|PMID:28404607|PMID:28492532|PMID:29350269|PMID:29453246|PMID:29477366|PMID:31155924|PMID:31513939|PMID:32508047 11958218 RYR2 ryanodine receptor 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17576681|PMID:19926015|PMID:23861362|PMID:24033266|PMID:25163546|PMID:25650408|PMID:25741868|PMID:27930701|PMID:28404607|PMID:28492532|PMID:29453246|PMID:31333075|PMID:31568572|PMID:9536098 11958218 RYR2 ryanodine receptor 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317019 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:24033266|PMID:25163546|PMID:25650408|PMID:25741868|PMID:25925909|PMID:27930701|PMID:28341588|PMID:28404607|PMID:28492532|PMID:29453246|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32152366 11958218 RYR2 ryanodine receptor 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317019 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17576681|PMID:23861362|PMID:24033266|PMID:25163546|PMID:25650408|PMID:25741868|PMID:25925909|PMID:27930701|PMID:28341588|PMID:28404607|PMID:28492532|PMID:29453246|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32152366|PMID:32746448|PMID:9536098 11958218 RYR2 ryanodine receptor 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11958218 RYR2 ryanodine receptor 2 gene DOID:1682 congenital heart disease ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868|PMID:28492532 11958218 RYR2 ryanodine receptor 2 gene DOID:1790 malignant mesothelioma ISO RGD:1317019 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 11958218 RYR2 ryanodine receptor 2 gene DOID:2843 long QT syndrome ISO RGD:1317019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:11159936|PMID:15364606|PMID:15364613|PMID:16239587|PMID:19926015|PMID:21616285|PMID:22221940|PMID:22373669|PMID:22374134|PMID:22787013|PMID:22828895|PMID:23595086|PMID:23871484|PMID:24033266|PMID:25351510|PMID:25440180|PMID:25554238|PMID:25741868|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26704558|PMID:26743238|PMID:27452199|PMID:27930701|PMID:28404607|PMID:28422759|PMID:28449774|PMID:28492532 11958218 RYR2 ryanodine receptor 2 gene DOID:2843 long QT syndrome ISO RGD:1317019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:11159936|PMID:15364606|PMID:15364613|PMID:16239587|PMID:19398665|PMID:19926015|PMID:21616285|PMID:22221940|PMID:22373669|PMID:22374134|PMID:22787013|PMID:22828895|PMID:23595086|PMID:23871484|PMID:24033266|PMID:25351510|PMID:25440180|PMID:25554238|PMID:25741868|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26256814|PMID:26704558|PMID:26743238|PMID:27452199|PMID:27930701|PMID:28404607|PMID:28422759|PMID:28449774|PMID:28492532|PMID:31112425 11958218 RYR2 ryanodine receptor 2 gene DOID:2843 long QT syndrome ISO RGD:1317019 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:11159936|PMID:15364606|PMID:15364613|PMID:16239587|PMID:19398665|PMID:19926015|PMID:21616285|PMID:22221940|PMID:22373669|PMID:22374134|PMID:22787013|PMID:22828895|PMID:23595086|PMID:23871484|PMID:24033266|PMID:25351510|PMID:25440180|PMID:25554238|PMID:25741868|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26256814|PMID:26704558|PMID:26743238|PMID:27452199|PMID:27930701|PMID:28404607|PMID:28422759|PMID:28449774|PMID:28492532|PMID:29543670|PMID:31112425|PMID:32152366 11958218 RYR2 ryanodine receptor 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1317019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:24033266|PMID:24558114|PMID:25041964|PMID:25351510|PMID:25467552|PMID:25637381|PMID:25741868|PMID:25925909|PMID:26383259|PMID:28150229|PMID:28404607|PMID:28492532|PMID:29453246|PMID:29874177|PMID:30615648|PMID:30847666|PMID:31112425|PMID:31114860|PMID:31337358|PMID:32048431|PMID:32233023 11958218 RYR2 ryanodine receptor 2 gene DOID:6000 congestive heart failure ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:25741868|PMID:28492532 11958218 RYR2 ryanodine receptor 2 gene DOID:630 genetic disease ISO RGD:1317019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12093772|PMID:16272262|PMID:17576681|PMID:18752142|PMID:19398665|PMID:19926015|PMID:21126784|PMID:21292648|PMID:21616285|PMID:23022705|PMID:23595086|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24136861|PMID:24631775|PMID:25041964|PMID:25554238|PMID:25741868|PMID:26114861|PMID:27538377|PMID:28202948|PMID:28404607|PMID:28492532|PMID:28606196|PMID:29453246|PMID:31402444|PMID:9536098 11958218 RYR2 ryanodine receptor 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1317019 D RGD:7240710 20210526 OMIM 11958218 RYR2 ryanodine receptor 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1317019 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:12093772|PMID:12459180|PMID:17576681|PMID:17984046|PMID:19216760|PMID:19926015|PMID:20132818|PMID:23396983|PMID:23671135|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:25775566|PMID:25925909|PMID:26189708|PMID:26688388|PMID:27153395|PMID:27229459|PMID:27532257|PMID:27538377|PMID:27646203|PMID:28237968|PMID:28404607|PMID:28492532|PMID:28600387|PMID:28798025|PMID:29032884|PMID:29368431|PMID:29453246|PMID:29477366|PMID:29544605|PMID:30615648|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31112425|PMID:31195250|PMID:31513939|PMID:33536282|PMID:33789662|PMID:33919104|PMID:35668055|PMID:9536098 11958218 RYR2 ryanodine receptor 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1317019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:12106942|PMID:12459180|PMID:15544015|PMID:17062961|PMID:19926015|PMID:21616285|PMID:22221940|PMID:22373669|PMID:22374134|PMID:22787013|PMID:23549275|PMID:23871484|PMID:24025405|PMID:24033266|PMID:25087098|PMID:25193700|PMID:25440180|PMID:25741868|PMID:26153920|PMID:26743238|PMID:27114410|PMID:27452199|PMID:27538377|PMID:27646203|PMID:28158428|PMID:28422759|PMID:28449774|PMID:28492532|PMID:29477366 11958218 RYR2 ryanodine receptor 2 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with left ventricular noncompaction | ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 11958218 RYR2 ryanodine receptor 2 gene DOID:9000727 Syncope ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syncope 11958218 RYR2 ryanodine receptor 2 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1317019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:19926015|PMID:21964171|PMID:23204524|PMID:23396983|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24055113|PMID:25163546|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26899768|PMID:27153395|PMID:27231019|PMID:27538377|PMID:27930701|PMID:28404607|PMID:28492532|PMID:28771489|PMID:31539150|PMID:31737537|PMID:32152366|PMID:32508047|PMID:32746448|PMID:33500567|PMID:35932045 11958218 RYR2 ryanodine receptor 2 gene DOID:9002554 Tachycardia ISO RGD:1317019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15749201 11958218 RYR2 ryanodine receptor 2 gene DOID:9002554 Tachycardia ISO RGD:1317019 D RGD:9068941 20200609 RGD PMID:8589694|REF_RGD_ID:1578810 11958218 RYR2 ryanodine receptor 2 gene DOID:9002914 Familial Sudden Death ISO RGD:1317019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31913406 11958218 RYR2 ryanodine receptor 2 gene DOID:9003163 Heart Block ISO RGD:1317019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:19926015|PMID:21964171|PMID:23204524|PMID:23396983|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24055113|PMID:25163546|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26899768|PMID:27153395|PMID:27231019|PMID:27538377|PMID:27930701|PMID:28404607|PMID:28492532|PMID:28771489|PMID:31539150|PMID:31737537|PMID:32152366|PMID:32508047|PMID:32746448|PMID:33500567|PMID:35932045 11958218 RYR2 ryanodine receptor 2 gene DOID:9003631 Diastolic Dysfunction ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diastolic dysfunction PMID:25741868|PMID:28492532 11958218 RYR2 ryanodine receptor 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1317019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:26656175|PMID:27054166|PMID:28404607|PMID:28492532|PMID:30403697|PMID:30471092|PMID:34088380 11958218 RYR2 ryanodine receptor 2 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1317019 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 11958218 RYR2 ryanodine receptor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620314 D RGD:9068941 20200609 RGD PMID:17027851|REF_RGD_ID:1599247 11958218 RYR2 ryanodine receptor 2 gene DOID:9006030 Infant Death ISO RGD:1317019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Death in infancy PMID:19926015|PMID:20157052|PMID:22374134|PMID:22515980|PMID:22677073|PMID:23861362|PMID:24025405|PMID:24033266|PMID:25370123|PMID:25741868|PMID:27435932|PMID:27538377|PMID:28125075|PMID:28404607|PMID:28492532|PMID:28567303|PMID:29396286|PMID:30403697|PMID:30835254|PMID:32152366 11958218 RYR2 ryanodine receptor 2 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:1317019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16685413 11958218 RYR2 ryanodine receptor 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1317019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11958218 RYR2 ryanodine receptor 2 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:1317019 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Polymorphic ventricular tachycardia PMID:11159936|PMID:12106942|PMID:12459180|PMID:15131021|PMID:15364606|PMID:15364613|PMID:15544015|PMID:16188589|PMID:16239587|PMID:16391617|PMID:16517285|PMID:16769042|PMID:16818210|PMID:17062961|PMID:18326664|PMID:19398665|PMID:19541610|PMID:19709828|PMID:19913485|PMID:19926015|PMID:20106799|PMID:20961976|PMID:21315846|PMID:21616285|PMID:21659649|PMID:22221940|PMID:22373669|PMID:22374134|PMID:22677073|PMID:22787013|PMID:22828895|PMID:23286974|PMID:23549275|PMID:23595086|PMID:23671135|PMID:23820649|PMID:23861362|PMID:23871484|PMID:24025405|PMID:24033266|PMID:24136861|PMID:24503780|PMID:25087098|PMID:25193700|PMID:25440180|PMID:25637381|PMID:25741868|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26332594|PMID:26743238|PMID:27114410|PMID:27452199|PMID:27538377|PMID:27646203|PMID:28158428|PMID:28237968|PMID:28404607|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28600387|PMID:28798025|PMID:29434162|PMID:29453246|PMID:29477366|PMID:29543670|PMID:29555771|PMID:29925740|PMID:30197081|PMID:30847666|PMID:31112425|PMID:31737537|PMID:32009526|PMID:32152366|PMID:33825858 11958218 RYR2 ryanodine receptor 2 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 11958218 RYR2 ryanodine receptor 2 gene DOID:9007820 Sudden Death ISO RGD:1317019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sudden death | ClinVar Annotator: match by term: Sudden unexplained death PMID:12459180|PMID:22787013|PMID:23861362|PMID:24033266|PMID:25650408|PMID:25741868|PMID:26656175|PMID:27054166|PMID:27646203|PMID:27930701|PMID:28404607|PMID:28492532|PMID:29350269|PMID:29477366|PMID:31513939 11958218 RYR2 ryanodine receptor 2 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1317019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death PMID:12459180|PMID:22787013|PMID:23861362|PMID:24033266|PMID:25650408|PMID:25741868|PMID:26656175|PMID:27054166|PMID:27646203|PMID:27930701|PMID:28404607|PMID:28492532|PMID:29350269|PMID:29477366|PMID:30615648 11958218 RYR2 ryanodine receptor 2 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:1317019 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:24033266|PMID:25741868|PMID:28404607|PMID:28492532 11958218 RYR2 ryanodine receptor 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11958331 PRKG1 protein kinase cGMP-dependent 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1322442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11958331 PRKG1 protein kinase cGMP-dependent 1 gene DOID:10763 hypertension ISO RGD:1587390 D RGD:9068941 20200609 RGD mRNA, protein:splice variant, alternative form:basilar artery PMID:14512447|REF_RGD_ID:7775067 11958331 PRKG1 protein kinase cGMP-dependent 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322442 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16646045|PMID:23910461|PMID:25741868|PMID:27442293|PMID:27879251|PMID:28166811|PMID:28492532|PMID:29510914|PMID:29907982 11958331 PRKG1 protein kinase cGMP-dependent 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16646045|PMID:17576681|PMID:23910461|PMID:25741868|PMID:27442293|PMID:27879251|PMID:28492532|PMID:29510914|PMID:29907982|PMID:9536098 11958331 PRKG1 protein kinase cGMP-dependent 1 gene DOID:1875 impotence ISO RGD:1587390 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expression:penis erectile tissue PMID:17355372|REF_RGD_ID:7775062 11958331 PRKG1 protein kinase cGMP-dependent 1 gene DOID:1924 hypogonadism ISO RGD:1587390 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:Leydig cell PMID:20463352|REF_RGD_ID:7775065 11958331 PRKG1 protein kinase cGMP-dependent 1 gene DOID:4481 allergic rhinitis ISO RGD:1587390 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity epithelium PMID:24012634|REF_RGD_ID:7775060 11958331 PRKG1 protein kinase cGMP-dependent 1 gene DOID:5419 schizophrenia ISO RGD:1322442 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11958331 PRKG1 protein kinase cGMP-dependent 1 gene DOID:630 genetic disease ISO RGD:1322442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11958331 PRKG1 protein kinase cGMP-dependent 1 gene DOID:6432 pulmonary hypertension ISO RGD:1322442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21351102 11958331 PRKG1 protein kinase cGMP-dependent 1 gene DOID:65 connective tissue disease ISO RGD:1322442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 11958331 PRKG1 protein kinase cGMP-dependent 1 gene DOID:670 amphetamine abuse ISO RGD:1322442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11958331 PRKG1 protein kinase cGMP-dependent 1 gene DOID:8541 Sezary's disease ISO RGD:1322442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 11958331 PRKG1 protein kinase cGMP-dependent 1 gene DOID:9000641 Pain ISO RGD:1587390 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:12384231|REF_RGD_ID:7775057 11958331 PRKG1 protein kinase cGMP-dependent 1 gene DOID:9002211 Hyperalgesia treatment ISO RGD:1617610 D RGD:9068941 20200609 RGD PMID:14973199|REF_RGD_ID:7775058 11958331 PRKG1 protein kinase cGMP-dependent 1 gene DOID:9003536 Familial Thoracic Aortic Aneurysm 8 ISO RGD:1322442 D RGD:7240710 20180130 OMIM 11958331 PRKG1 protein kinase cGMP-dependent 1 gene DOID:9003536 Familial Thoracic Aortic Aneurysm 8 ISO RGD:1322442 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 PMID:16199547|PMID:16646045|PMID:17576681|PMID:23910461|PMID:25640679|PMID:25741868|PMID:27442293|PMID:27879251|PMID:28492532|PMID:29510914|PMID:29907982|PMID:9536098 11958331 PRKG1 protein kinase cGMP-dependent 1 gene DOID:9004538 Hearing Loss ISO RGD:1617610 D RGD:9068941 20200609 RGD PMID:22270721|REF_RGD_ID:7775056 11958331 PRKG1 protein kinase cGMP-dependent 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1587390 D RGD:9068941 20200609 RGD PMID:20186099|REF_RGD_ID:7775064 11958331 PRKG1 protein kinase cGMP-dependent 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:1587390 D RGD:9068941 20200609 RGD protein:decreased expression:aorta PMID:15939056|REF_RGD_ID:7777110 11958331 PRKG1 protein kinase cGMP-dependent 1 gene DOID:9005968 Neuralgia ISO RGD:1322442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30152261 11958331 PRKG1 protein kinase cGMP-dependent 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:1587390 D RGD:9068941 20200609 RGD PMID:18332860|PMID:19845676|REF_RGD_ID:7777120|REF_RGD_ID:7777130 11958331 PRKG1 protein kinase cGMP-dependent 1 gene DOID:9970 obesity ISO RGD:1587390 D RGD:9068941 20200609 RGD protein:increased expression:kidney, glomerulus PMID:23454089|REF_RGD_ID:7777114 11958357 MESP1 mesoderm posterior bHLH transcription factor 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1603631 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 11958357 MESP1 mesoderm posterior bHLH transcription factor 1 gene DOID:1682 congenital heart disease ISO RGD:1603631 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congenital heart disease PMID:24056064|PMID:25741868|PMID:26694203|PMID:28677747 11958357 MESP1 mesoderm posterior bHLH transcription factor 1 gene DOID:2717 Bloom syndrome ISO RGD:1603631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11958357 MESP1 mesoderm posterior bHLH transcription factor 1 gene DOID:5844 myocardial infarction treatment ISO RGD:1603631 D RGD:9068941 20230330 RGD human gene and cell line in a rat model PMID:32550911|REF_RGD_ID:242905196 11958357 MESP1 mesoderm posterior bHLH transcription factor 1 gene DOID:630 genetic disease ISO RGD:1603631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11958357 MESP1 mesoderm posterior bHLH transcription factor 1 gene DOID:8947 diabetic retinopathy ISO RGD:1603631 D RGD:9068941 20230330 RGD associated with type 2 diabetes mellitus;DNA:increased expression:plasma (human) PMID:33221518|REF_RGD_ID:242905212 11958357 MESP1 mesoderm posterior bHLH transcription factor 1 gene DOID:9256 colorectal cancer ISO RGD:1603631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11958363 RIN3 Ras and Rab interactor 3 gene DOID:0080054 achondrogenesis type IA ISO RGD:1314128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11958363 RIN3 Ras and Rab interactor 3 gene DOID:1749 squamous cell carcinoma ISO RGD:1314128 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 11958363 RIN3 Ras and Rab interactor 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1314128 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 11958363 RIN3 Ras and Rab interactor 3 gene DOID:5408 Paget's disease of bone ISO RGD:1314128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21623375 11958363 RIN3 Ras and Rab interactor 3 gene DOID:630 genetic disease ISO RGD:1314128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11958383 ZSCAN26 zinc finger and SCAN domain containing 26 gene DOID:11372 megacolon ISO RGD:1345585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11958383 ZSCAN26 zinc finger and SCAN domain containing 26 gene DOID:630 genetic disease ISO RGD:1345585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11958423 PLEKHG6 pleckstrin homology and RhoGEF domain containing G6 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1605382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11958423 PLEKHG6 pleckstrin homology and RhoGEF domain containing G6 gene DOID:630 genetic disease ISO RGD:1605382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11958423 PLEKHG6 pleckstrin homology and RhoGEF domain containing G6 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1605382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11958453 RABEP2 rabaptin, RAB GTPase binding effector protein 2 gene DOID:0050692 Brody myopathy ISO RGD:1344154 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brody myopathy PMID:28492532 11958453 RABEP2 rabaptin, RAB GTPase binding effector protein 2 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1344154 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 11958453 RABEP2 rabaptin, RAB GTPase binding effector protein 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1344154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 11958453 RABEP2 rabaptin, RAB GTPase binding effector protein 2 gene DOID:2661 myoepithelioma ISO RGD:1344154 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11958453 RABEP2 rabaptin, RAB GTPase binding effector protein 2 gene DOID:5419 schizophrenia ISO RGD:1344154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11958453 RABEP2 rabaptin, RAB GTPase binding effector protein 2 gene DOID:630 genetic disease ISO RGD:1344154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11958453 RABEP2 rabaptin, RAB GTPase binding effector protein 2 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1344154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 11958470 HSPA1L heat shock protein family A (Hsp70) member 1 like gene DOID:0050553 JMP syndrome ISO RGD:1353078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11958470 HSPA1L heat shock protein family A (Hsp70) member 1 like gene DOID:0060500 drug allergy ISO RGD:1353078 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:16538175 11958470 HSPA1L heat shock protein family A (Hsp70) member 1 like gene DOID:0110892 inflammatory bowel disease 1 ISO RGD:1353078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 PMID:28126021 11958470 HSPA1L heat shock protein family A (Hsp70) member 1 like gene DOID:13141 uveitis ISO RGD:1353078 D RGD:9068941 20200611 RGD associated with Sarcoidosis;DNA:SNP:exon:rs2075800 (human) PMID:17591867|REF_RGD_ID:5147597 11958470 HSPA1L heat shock protein family A (Hsp70) member 1 like gene DOID:13378 Kawasaki disease ISO RGD:1353078 D RGD:9068941 20200611 RGD DNA:missense mutation, haplotype:cds:2437T>C (p.M493T) (rs2227956) (human) PMID:23870089|REF_RGD_ID:8662464 11958470 HSPA1L heat shock protein family A (Hsp70) member 1 like gene DOID:1470 major depressive disorder ISO RGD:1353078 D RGD:9068941 20200611 RGD DNA:SNPs: :rs2075799, rs2227956 (human) PMID:17428599|REF_RGD_ID:5147598 11958470 HSPA1L heat shock protein family A (Hsp70) member 1 like gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1353078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease 11958470 HSPA1L heat shock protein family A (Hsp70) member 1 like gene DOID:5419 schizophrenia ISO RGD:1353078 D RGD:9068941 20200611 RGD DNA:silent mutation, missense mutation, haplotype:cds: (rs2075799, rs2227956) (human) PMID:18299791|REF_RGD_ID:5147596 11958470 HSPA1L heat shock protein family A (Hsp70) member 1 like gene DOID:630 genetic disease ISO RGD:1353078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11958470 HSPA1L heat shock protein family A (Hsp70) member 1 like gene DOID:8778 Crohn's disease ISO RGD:1353078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 PMID:28126021 11958470 HSPA1L heat shock protein family A (Hsp70) member 1 like gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1353078 D RGD:9068941 20200611 RGD DNA:SNP, haplotype: :rs2227956 (human) PMID:17009596|REF_RGD_ID:8662466 11958470 HSPA1L heat shock protein family A (Hsp70) member 1 like gene DOID:9003817 Sudden Hearing Loss ISO RGD:1353078 D RGD:9068941 20200611 RGD DNA:SNP, haplotype: :rs2075800 (human) PMID:22922572|REF_RGD_ID:8662465 11958470 HSPA1L heat shock protein family A (Hsp70) member 1 like gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1353078 D RGD:9068941 20200611 RGD DNA:polymorphism, haplotype: :p.M493T (human) PMID:15024131|REF_RGD_ID:8662461 11958470 HSPA1L heat shock protein family A (Hsp70) member 1 like gene DOID:9074 systemic lupus erythematosus ISO RGD:1353078 D RGD:9068941 20200611 RGD DNA:SNPs: :rs2075800, rs2227956 (human) PMID:20498198|REF_RGD_ID:5147600 11958486 LOC100995998 otoancorin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1348640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:23173898|PMID:24033266|PMID:28492532|PMID:30303587 11958486 LOC100995998 otoancorin gene DOID:0110480 autosomal recessive nonsyndromic deafness 22 ISO RGD:1348640 D RGD:7240710 20180130 OMIM 11958486 LOC100995998 otoancorin gene DOID:0110480 autosomal recessive nonsyndromic deafness 22 ISO RGD:1348640 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 22 PMID:11972037|PMID:17576681|PMID:19888295|PMID:23173898|PMID:23690975|PMID:23897863|PMID:24033266|PMID:24963352|PMID:25373420|PMID:25741868|PMID:26434960|PMID:27068579|PMID:28492532|PMID:30303587|PMID:30311386|PMID:30740825|PMID:30828794|PMID:31152317|PMID:31827275|PMID:33492714|PMID:33597575|PMID:35802133|PMID:36633841|PMID:9536098 11958486 LOC100995998 otoancorin gene DOID:0110520 autosomal recessive nonsyndromic deafness 7 ISO RGD:1348640 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 7 PMID:35802133|PMID:36633841 11958486 LOC100995998 otoancorin gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1348640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 9 PMID:25741868 11958486 LOC100995998 otoancorin gene DOID:630 genetic disease ISO RGD:1348640 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26969326|PMID:28492532 11958486 LOC100995998 otoancorin gene DOID:9004538 Hearing Loss ISO RGD:1348640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:25741868|PMID:30311386 11958511 RPP38-DT RPP38 divergent transcript gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1343828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11958522 ZNF20 zinc finger protein 20 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1349406 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11958522 ZNF20 zinc finger protein 20 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1349406 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11958522 ZNF20 zinc finger protein 20 gene DOID:0111254 glutaric acidemia I ISO RGD:1349406 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11958522 ZNF20 zinc finger protein 20 gene DOID:3413 alpha-mannosidosis ISO RGD:1349406 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11958522 ZNF20 zinc finger protein 20 gene DOID:630 genetic disease ISO RGD:1349406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11958551 ITGA8 integrin subunit alpha 8 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:736147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11958551 ITGA8 integrin subunit alpha 8 gene DOID:14766 renal agenesis ISO RGD:736147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11958551 ITGA8 integrin subunit alpha 8 gene DOID:2394 ovarian cancer ISO RGD:736147 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:17303177|REF_RGD_ID:2302241 11958551 ITGA8 integrin subunit alpha 8 gene DOID:4783 mesangial proliferative glomerulonephritis ISO RGD:621634 D RGD:9068941 20200609 RGD mRNA:increased expression:cortex of kidney PMID:25482639|REF_RGD_ID:12910487 11958551 ITGA8 integrin subunit alpha 8 gene DOID:5419 schizophrenia treatment ISO RGD:736147 D RGD:9068941 20200609 RGD DNA:SNP:cds: rs2298033(human) PMID:23153507|REF_RGD_ID:13601982 11958551 ITGA8 integrin subunit alpha 8 gene DOID:630 genetic disease ISO RGD:736147 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11958551 ITGA8 integrin subunit alpha 8 gene DOID:783 end stage renal disease ISO RGD:736147 D RGD:9068941 20200609 RGD associated with Polycystic Kidney, Autosomal Dominant;DNA:polymorphism: :-414T>C(human) PMID:18277079|REF_RGD_ID:7257723 11958551 ITGA8 integrin subunit alpha 8 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736147 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:18277079|REF_RGD_ID:7257723 11958551 ITGA8 integrin subunit alpha 8 gene DOID:9000217 Stomach Neoplasms ISO RGD:736147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17786296 11958551 ITGA8 integrin subunit alpha 8 gene DOID:9002762 Ovarian Neoplasms ISO RGD:736147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17303177 11958551 ITGA8 integrin subunit alpha 8 gene DOID:9003763 Renal Hypodysplasia/Aplasia 1 ISO RGD:736147 D RGD:7240710 20180711 OMIM 11958551 ITGA8 integrin subunit alpha 8 gene DOID:9003763 Renal Hypodysplasia/Aplasia 1 ISO RGD:736147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 1 PMID:24439109|PMID:25741868|PMID:28492532|PMID:33532864 11958585 U2AF1L4 U2 small nuclear RNA auxiliary factor 1 like 4 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1343980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11958585 U2AF1L4 U2 small nuclear RNA auxiliary factor 1 like 4 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1343980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11958585 U2AF1L4 U2 small nuclear RNA auxiliary factor 1 like 4 gene DOID:543 dystonia ISO RGD:1343980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11958585 U2AF1L4 U2 small nuclear RNA auxiliary factor 1 like 4 gene DOID:630 genetic disease ISO RGD:1343980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11958618 PCDH7 protocadherin 7 gene DOID:630 genetic disease ISO RGD:1346973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11958639 ESD esterase D gene DOID:630 genetic disease ISO RGD:1354034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11958639 ESD esterase D gene DOID:8398 osteoarthritis ISO RGD:1354034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11958639 ESD esterase D gene DOID:9002669 Hypoxia ISO RGD:1354034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 11958659 RGMA repulsive guidance molecule BMP co-receptor a gene DOID:11446 sciatic neuropathy ISO RGD:1311983 D RGD:9068941 20200609 RGD PMID:16863689|REF_RGD_ID:9850145 11958659 RGMA repulsive guidance molecule BMP co-receptor a gene DOID:2377 multiple sclerosis ISO RGD:1323724 D RGD:9068941 20200609 RGD DNA:SNPs:intron: (rs997941, rs34925346) (human) PMID:20072140|REF_RGD_ID:6892695 11958659 RGMA repulsive guidance molecule BMP co-receptor a gene DOID:3328 temporal lobe epilepsy ISO RGD:1311983 D RGD:9068941 20200609 RGD protein:decreased expression:CA3 field of hippocampus PMID:25420768|REF_RGD_ID:9850144 11958659 RGMA repulsive guidance molecule BMP co-receptor a gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1311983 D RGD:9068941 20200609 RGD PMID:21840379|PMID:23275173|REF_RGD_ID:9850121|REF_RGD_ID:9850122 11958659 RGMA repulsive guidance molecule BMP co-receptor a gene DOID:630 genetic disease ISO RGD:1323724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11958659 RGMA repulsive guidance molecule BMP co-receptor a gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1311983 D RGD:9068941 20200609 RGD PMID:16585268|REF_RGD_ID:9850138 11958659 RGMA repulsive guidance molecule BMP co-receptor a gene DOID:9002560 Penetrating Eye Injuries ISO RGD:1311983 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:21887516|REF_RGD_ID:9850142 11958666 DOP1A DOP1 leucine zipper like protein A gene DOID:0080545 hyper IgE syndrome ISO RGD:1313616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgE syndrome PMID:24698316 11958666 DOP1A DOP1 leucine zipper like protein A gene DOID:0111953 immunodeficiency 23 ISO RGD:1313616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 23 PMID:14981714|PMID:17548465|PMID:17576681|PMID:24033266|PMID:24589341|PMID:24698316|PMID:24931394|PMID:25741868|PMID:28492532|PMID:33098103|PMID:9536098 11958666 DOP1A DOP1 leucine zipper like protein A gene DOID:627 severe combined immunodeficiency ISO RGD:1313616 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 11958666 DOP1A DOP1 leucine zipper like protein A gene DOID:630 genetic disease ISO RGD:1313616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11958717 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:10608 celiac disease ISO RGD:1353906 D RGD:9068941 20230518 RGD PMID:28247576|PMID:30013750|REF_RGD_ID:14865008|REF_RGD_ID:14928328 11958717 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:10608 celiac disease ISO RGD:1353906 D RGD:9068941 20230518 RGD DNA:polymorphism (human) PMID:19494267|REF_RGD_ID:5147789 11958717 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:10608 celiac disease ISO RGD:1353906 D RGD:9068941 20230518 RGD DNA:polymorphisms PMID:29793442|REF_RGD_ID:14974234 11958717 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:10608 celiac disease ISO RGD:1353906 D RGD:9068941 20230518 RGD DNA:polymorphisms, haplotypes:multiple (human) PMID:18509540|REF_RGD_ID:5147791 11958717 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:10608 celiac disease ISO RGD:1353906 D RGD:9068941 20230518 RGD associated with Down Syndrome;DNA:polymorphisms, haplotype:HLA-DQB1*0201 (human) PMID:11426458|REF_RGD_ID:5147854 11958717 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:10608 celiac disease ISO RGD:1353906 D RGD:9068941 20230518 RGD associated with Thyroiditis, Autoimmune;DNA:polymorphisms, haplotype:HLA-DQB1*02 (human) PMID:11713456|REF_RGD_ID:5147808 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:0040091 autoimmune pancreatitis severity ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:cds:HLA-DQB1*0302 (human) PMID:18155707|REF_RGD_ID:5147621 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:0050012 chikungunya susceptibility ISO RGD:1353906 D RGD:9068941 20200723 RGD DNA:polymorphism:cds: HLA-DQB1*03:03 (human) PMID:23710940|REF_RGD_ID:36049872 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:0050168 autoimmune polyendocrine syndrome type 2 susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:HLA-DQB1*02, HLA-DQB1*05 (human) PMID:21388354|REF_RGD_ID:5147565 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:0050185 erythema multiforme ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:9627123|REF_RGD_ID:5147868 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:0050426 Stevens-Johnson syndrome susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:HLA-DQB1*0601 (human) PMID:8841298|REF_RGD_ID:7483570 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:0050553 JMP syndrome ISO RGD:1353906 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:0050748 marginal zone lymphoma ISO RGD:1353906 D RGD:9068941 20200609 RGD associated with Helicobacter Infections;DNA:polymorphism: :HLA-DQB1*0601 (human) PMID:16234023|REF_RGD_ID:5147794 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:0050784 primary progressive multiple sclerosis severity ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism: :HLA-DQB1*0602 (human) PMID:19616314|REF_RGD_ID:5147610 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:0050827 rheumatic heart disease ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:HLA-DQB1*08 (human) PMID:17578051|REF_RGD_ID:5147630 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:0050840 cervical dystonia ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:20843162|REF_RGD_ID:5147570 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:0060025 immunoglobulin alpha deficiency ISO RGD:1353906 D RGD:9068941 20200609 RGD PMID:10931389|PMID:22291608|REF_RGD_ID:11041755|REF_RGD_ID:11041756 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:0060284 paroxysmal nocturnal hemoglobinuria ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype PMID:12070003|REF_RGD_ID:11041765 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:0060532 latex allergy ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:15536412|REF_RGD_ID:5147656 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:0060643 primary sclerosing cholangitis disease_progression ISO RGD:1353906 D RGD:9068941 20200609 RGD PMID:30487703|REF_RGD_ID:14865010 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:0060851 pemphigus vulgaris ISO RGD:1353906 D RGD:9068941 20200609 RGD PMID:28197992|REF_RGD_ID:14747041 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:0080600 COVID-19 ISO RGD:1353906 D RGD:9068941 20200709 RGD mRNA:decreased expression:memory B cells (human) PMID:32377375|REF_RGD_ID:32716422 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:0080822 aspirin-induced respiratory disease susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD PMID:25975240|REF_RGD_ID:11074090 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:0110429 dilated cardiomyopathy 1H susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:10432437|REF_RGD_ID:5147858 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:0110429 dilated cardiomyopathy 1H susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:HLA-DQB1*0303 (human) PMID:15996167|REF_RGD_ID:5147650 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:1019 osteomyelitis susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:polymorphisms, haplotypes:cds:HLA-DQB1*050101, HLA-DQB1*0201, HLA-DQB1*0302 (human) PMID:18312480|REF_RGD_ID:11041747 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:10316 pneumoconiosis susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:HLA-DQB1*06, HLA-DQB1*08, HLA-DQB1*09 (human) PMID:16188098|REF_RGD_ID:7421557 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:10325 silicosis ISO RGD:1353906 D RGD:9068941 20200717 RGD DNA:polymorphism: :HLA-DQB1*0402(human) PMID:11776400|REF_RGD_ID:36049758 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:104 bacterial infectious disease onset ISO RGD:1353906 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:polymorphism (human) PMID:16987934|REF_RGD_ID:5147635 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:10591 pre-eclampsia susceptibility ISO RGD:1353906 D RGD:9068941 20200730 RGD DNA:polymorphism:cds:HLA-DQB1*04 (human) PMID:10960630|REF_RGD_ID:36174024 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:10608 celiac disease susceptibility ISO RGD:1353906 D RGD:7240710 20230517 OMIM 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:HLA-DQB1*0301 (human) PMID:19922436|REF_RGD_ID:11041754 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:10923 sickle cell anemia ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype PMID:19254255|REF_RGD_ID:11041761 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:11165 common wart susceptibility ISO RGD:1353906 D RGD:9068941 20200723 RGD DNA:polymorphism: :HLA-DQB1*0301 PMID:15257408|REF_RGD_ID:36049812 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:11335 sarcoidosis susceptibility ISO RGD:1353906 D RGD:9068941 20200724 RGD DNA:polymorphisms: :HLA-DQBl*O603, DQB1*0604(human) PMID:9659531|REF_RGD_ID:36174017 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:11336 rhinoscleroma susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:haplotype: : PMID:17321882|REF_RGD_ID:8547664 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:11339 pneumocystosis ISO RGD:3469 D RGD:9068941 20200609 RGD PMID:20377877|REF_RGD_ID:4144112 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:11656 cicatricial pemphigoid susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:HLA-DQB1*0301 (human) PMID:9008223|REF_RGD_ID:7483589 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:11656 cicatricial pemphigoid susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0301, HLA-DQB1*0201 (human) PMID:9683867|REF_RGD_ID:7365096 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:11829 degenerative myopia ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:multiple (human) PMID:10887689|REF_RGD_ID:7483572 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:11829 degenerative myopia susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:multiple (human) PMID:11864433|REF_RGD_ID:7421542 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:11949 Creutzfeldt-Jakob disease susceptibility ISO RGD:1353906 D RGD:7240710 20230517 OMIM 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:1205 allergic disease ISO RGD:1353906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8725357 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:1205 allergic disease ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:10689122|PMID:16112029|REF_RGD_ID:5147814|REF_RGD_ID:5147826 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:1205 allergic disease ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:10202362|REF_RGD_ID:5147866 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:1205 allergic disease susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:15853900|PMID:20684489|REF_RGD_ID:5147606|REF_RGD_ID:5147651 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:1210 optic neuritis susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:HLA-DQB1*0602 (human) PMID:9006417|REF_RGD_ID:7483596 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:12148 alveolar echinococcosis disease_progression ISO RGD:1353906 D RGD:9068941 20200723 RGD DNA:polymorphism: :HLA-DQB1*02(human) PMID:9756400|REF_RGD_ID:36174003 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:12177 common variable immunodeficiency ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:10361244|REF_RGD_ID:5147864 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:12241 beta thalassemia ISO RGD:1353906 D RGD:9068941 20200609 RGD PMID:12513847|REF_RGD_ID:11041746 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:12297 Vogt-Koyanagi-Harada disease ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:multiple (human) PMID:17605936|REF_RGD_ID:7421525 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:12297 Vogt-Koyanagi-Harada disease susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:snps:promoter:g.-227G>A, g.-189C>A (human) PMID:19176112|REF_RGD_ID:7421581 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:12306 vitiligo ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:16420246|REF_RGD_ID:5147644 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:12306 vitiligo susceptibility ISO RGD:1353906 D RGD:9068941 20200723 RGD DNA:polymorphism:HLA-DQB1*0201(human) PMID:9653015|REF_RGD_ID:36174006 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:12361 Graves' disease susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:HLA-DQB1*0602 (human) PMID:11272094|REF_RGD_ID:7483568 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:12361 Graves' disease susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:HLA-DQB1*0303, HLA-DQB1*201 (human) PMID:10468909|REF_RGD_ID:7421572 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:12449 aplastic anemia ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype PMID:12070003|REF_RGD_ID:11041765 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:12449 aplastic anemia severity ISO RGD:1353906 D RGD:9068941 20200609 RGD PMID:24979673|REF_RGD_ID:11041757 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:12449 aplastic anemia treatment ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype PMID:7994040|REF_RGD_ID:11041775 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:1245 vulva cancer susceptibility ISO RGD:1353906 D RGD:9068941 20200723 RGD associated with Papillomavirus Infections;DNA:polymorphisms: :HLA-DQB1*03032,DQB1*5(human) PMID:12543794|REF_RGD_ID:2314696 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:12859 choreatic disease ISO RGD:1353906 D RGD:9068941 20200609 RGD associated with Rheumatic Fever;DNA:polymorphism (human) PMID:17559688|REF_RGD_ID:5147792 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:12894 Sjogren's syndrome ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0401, HLA-DQB1*0601 (human) PMID:8468491|REF_RGD_ID:7483566 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:12894 Sjogren's syndrome susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:HLA-DQB1*0201 (human) PMID:21315052|REF_RGD_ID:7421543 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:12894 Sjogren's syndrome susceptibility ISO RGD:1353906 D RGD:9068941 20200730 RGD associated with Chronic Hepatitis C;DNA:polymorphism:cds:HLA-DQB1*02 (human) PMID:17489060|REF_RGD_ID:36174022 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:12930 dilated cardiomyopathy ISO RGD:1353906 D RGD:9068941 20200609 RGD PMID:9220309|REF_RGD_ID:13702906 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:12987 agranulocytosis ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:SNP: :6672G>C (human) PMID:20868635|REF_RGD_ID:11041752 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:13141 uveitis ISO RGD:3469 D RGD:9068941 20200609 RGD associated with Encephalomyelitis, Autoimmune, Experimental PMID:16723470|REF_RGD_ID:5147639 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:13166 allergic bronchopulmonary aspergillosis susceptibility ISO RGD:1353906 D RGD:9068941 20200717 RGD associated with cystic fibrosis; DNA:polymorphisms: :DQB1*06:02, DQB1*02:01(human) PMID:23278646|REF_RGD_ID:36049760 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:13241 Behcet's disease susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:multiple (human) PMID:23396137|REF_RGD_ID:7483565 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:13258 typhoid fever susceptibility ISO RGD:1353906 D RGD:9068941 20200716 RGD DNA:polymorphisms:: PMID:11120931|REF_RGD_ID:36049756 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:1340 pure red-cell aplasia susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:cds:HLA-DQB1*0309 (human) PMID:18689790|REF_RGD_ID:11041748 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:13774 Addison's disease ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:20455895|REF_RGD_ID:5147608 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:13774 Addison's disease ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:repeat (human) PMID:12072047|REF_RGD_ID:5147829 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:14040 autoimmune polyendocrine syndrome susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:HLA-DQB1*0401 (human) PMID:16254435|REF_RGD_ID:5147646 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:14067 Plasmodium falciparum malaria susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:HLA-DQB1*0501 (human) PMID:11076705|REF_RGD_ID:11041780 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:1459 hypothyroidism susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:HLA-DQB1*03, HLA-DQB1*05 (human) PMID:17588142|REF_RGD_ID:5147628 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:1495 cystic echinococcosis ISO RGD:1353906 D RGD:9068941 20200724 RGD DNA:polymorphisms: :HLA-DQB1*0.9, DQB1*02(human) PMID:22308705|REF_RGD_ID:36174019 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:1555 urticaria ISO RGD:1353906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:1558 angioedema ISO RGD:1353906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15784113 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:1586 rheumatic fever ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotypes:multiple PMID:17559688|REF_RGD_ID:5147792 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:1686 glaucoma susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:cds:HLA-DQB1*0302 (human) PMID:10511023|REF_RGD_ID:7365116 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:1883 hepatitis C ISO RGD:1353906 D RGD:9068941 20200609 RGD associated with Beta-Thalassemia PMID:22155912|REF_RGD_ID:11041750 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:1883 hepatitis C disease_progression ISO RGD:1353906 D RGD:9068941 20200609 RGD PMID:27340680|PMID:27599887|REF_RGD_ID:14928326|REF_RGD_ID:14928327 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:1883 hepatitis C susceptibility ISO RGD:1353906 D RGD:9068941 20201225 RGD DNA:polymorphism:cds:HLA-DQB1*03, *0501 (human) PMID:21535077|REF_RGD_ID:40902997 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:2043 hepatitis B ISO RGD:1353906 D RGD:9068941 20200609 RGD PMID:29979894|REF_RGD_ID:14865006 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:2043 hepatitis B treatment ISO RGD:1353906 D RGD:9068941 20200609 RGD PMID:29042702|REF_RGD_ID:14865007 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:2048 autoimmune hepatitis ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:17050030|PMID:20007077|REF_RGD_ID:5147584|REF_RGD_ID:5147634 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:216 dental caries ISO RGD:1353906 D RGD:9068941 20200609 RGD PMID:29594988|REF_RGD_ID:14928324 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1353906 D RGD:7240710 20230517 OMIM 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:2841 asthma ISO RGD:1353906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10792356 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:2841 asthma ISO RGD:1353906 D RGD:9068941 20200609 RGD Alternaria sensitive asthma PMID:20298583|REF_RGD_ID:4144113 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:2841 asthma ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:11802952|PMID:12890388|PMID:19052351|REF_RGD_ID:5147617|REF_RGD_ID:5147799|REF_RGD_ID:5147831 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:2841 asthma disease_progression ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:20214848|REF_RGD_ID:4144181 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:2841 asthma no_association ISO RGD:1353906 D RGD:9068941 20200609 RGD PMID:23331206|REF_RGD_ID:13506906 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:2841 asthma susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:20159242|REF_RGD_ID:13506913 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:2957 pulmonary tuberculosis ISO RGD:1353906 D RGD:9068941 20200717 RGD DNA:polymorphism: :HLA-DQB1*3:03(human) PMID:28612994|REF_RGD_ID:36049765 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:2957 pulmonary tuberculosis disease_progression ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:19230186|REF_RGD_ID:5147614 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1353906 D RGD:9068941 20200716 RGD DNA:polymorphism:cds:HLA-DQB1*0201(human) PMID:24024195|REF_RGD_ID:36049753 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:2986 IgA glomerulonephritis ISO RGD:1353906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25305756 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:1353906 D RGD:9068941 20200724 RGD DNA:polymorphism: :HLA-DQB1*0301(human) PMID:7638860|REF_RGD_ID:36174018 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:2988 antiphospholipid syndrome ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple (human) PMID:11157139|REF_RGD_ID:5147862 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:321 tropical spastic paraparesis susceptibility ISO RGD:1353906 D RGD:9068941 20200723 RGD PMID:25729550|REF_RGD_ID:36174012 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:399 tuberculosis susceptibility ISO RGD:1353906 D RGD:9068941 20200723 RGD associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-DQB1*05 PMID:19030725|REF_RGD_ID:36049809 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:401 multidrug-resistant tuberculosis ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:14522182|REF_RGD_ID:5147828 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:417 autoimmune disease ISO RGD:1353906 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:polymorphisms: :multiple (human) PMID:21744463|REF_RGD_ID:5147554 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:417 autoimmune disease ISO RGD:1353906 D RGD:9068941 20200609 RGD associated with Neutropenia PMID:19210322|REF_RGD_ID:11041759 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:418 systemic scleroderma ISO RGD:1353906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20383147 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:4362 cervical cancer susceptibility ISO RGD:1353906 D RGD:9068941 20200724 RGD associated with Papillomavirus Infections;DNA:polymorphism: :HLA-DQB1 G > A (rs6457617)(human) PMID:25893807|REF_RGD_ID:36174015 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:4362 cervical cancer susceptibility ISO RGD:1353906 D RGD:9068941 20200730 RGD DNA:polymorphisms::HLA-DQB1*050201, DQB1*060101, DQB1*0602(human) PMID:16425277|REF_RGD_ID:36174023 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:437 myasthenia gravis ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype:cds:HLA-DQB1*0302 (human) PMID:10593018|REF_RGD_ID:5147855 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:437 myasthenia gravis susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms: :HLA-DBQ1*0301, HLA-DBQ1*0502, HLA-DBQ1*0602/3 (human) PMID:19561379|REF_RGD_ID:5147612 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:4483 rhinitis susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:HLA-DQB1*0602 (human) PMID:14990915|REF_RGD_ID:5147798 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:5082 liver cirrhosis susceptibility ISO RGD:1353906 D RGD:9068941 20200716 RGD associated with Schistosomiasis Japonica;DNA:polymorphisms: :HLA-DQB1*0303, HLA-DQB1*0601, HLA-DQB1*0609(human) PMID:11336748|REF_RGD_ID:36049755 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:18427198|REF_RGD_ID:5147817 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple (human) PMID:20345872|REF_RGD_ID:5147659 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:633 myositis ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype:cds:HLA-DQB1*02 (human) PMID:17586554|REF_RGD_ID:5147629 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:639 acute disseminated encephalomyelitis susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:19722042|REF_RGD_ID:5147662 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:639 acute disseminated encephalomyelitis susceptibility ISO RGD:1353906 D RGD:9068941 20200717 RGD DNA:polymorphism, haplotype: : PMID:22786832|REF_RGD_ID:36049763 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:10457895|REF_RGD_ID:5147863 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:684 hepatocellular carcinoma ISO RGD:1353906 D RGD:9068941 20200609 RGD associated with hepatitis C;DNA:SNPs,haplotypes PMID:28921602|REF_RGD_ID:14974233 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1353906 D RGD:9068941 20200609 RGD associated with hepatitis B PMID:27288300|REF_RGD_ID:14928325 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:7147 ankylosing spondylitis severity ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:HLA-DQB1*0603 (human) PMID:19565552|REF_RGD_ID:5147611 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:7148 rheumatoid arthritis ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:11454644|REF_RGD_ID:5147860 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:7188 autoimmune thyroiditis ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:cds:HLA-DQB1*0401 (human) PMID:20825955|REF_RGD_ID:5147571 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:76 stomach disease susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD associated with Helicobacter Infections;DNA:polymorphisms:cds:HLA-DQB1*03 (human) PMID:20405713|REF_RGD_ID:5147609 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:7998 hyperthyroidism susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype:cds:HLA-DQB1*0602 (human) PMID:17194971|REF_RGD_ID:7421571 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:820 myocarditis ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:HLA-DQB1*0303 (human) PMID:19127454|REF_RGD_ID:5147615 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:848 arthritis ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:20472930|REF_RGD_ID:5147787 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:8552 chronic myeloid leukemia ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype PMID:17893434|REF_RGD_ID:11041777 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:8577 ulcerative colitis ISO RGD:1353906 D RGD:9068941 20200609 RGD PMID:31038770|REF_RGD_ID:14865009 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:8691 mycosis fungoides susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:HLA-DQB1*03 (human) PMID:15761416|REF_RGD_ID:7483574 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:8778 Crohn's disease ISO RGD:1353906 D RGD:9068941 20200609 RGD PMID:29358886|REF_RGD_ID:14974239 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:8869 neuromyelitis optica susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:HLA-DQB1*0402 (human) PMID:21908482|REF_RGD_ID:7421588 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:8869 neuromyelitis optica susceptibility ISO RGD:1353906 D RGD:9068941 20200723 RGD DNA:polymorphism:: HLA-DQB1*02:02 (human) PMID:27049564|REF_RGD_ID:11530523 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:8893 psoriasis susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:HLA-DQB1*0201, HLA-DQB1*0303 (human) PMID:15009387|REF_RGD_ID:5147797 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:HLA-DQB1*0401 (human) PMID:10435723|REF_RGD_ID:11041758 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:8929 atrophic gastritis ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:20082482|REF_RGD_ID:5147582 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:8929 atrophic gastritis susceptibility ISO RGD:1353906 D RGD:9068941 20200724 RGD associated with Helicobacter Infections; DNA:polymorphism: :HLA- DQB1*0401(human) PMID:10616761|REF_RGD_ID:36174021 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:8947 diabetic retinopathy severity ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:cds:HLA-DQB1*0201, HLA-DQB1*0302 (human) PMID:8932997|REF_RGD_ID:7483573 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0501, HLA-DQB1*0504 (human) PMID:19551681|REF_RGD_ID:7421552 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:8986 narcolepsy ISO RGD:1353906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20711174 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:8986 narcolepsy susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:multiple PMID:11179016|REF_RGD_ID:5147861 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9000877 Rhinosinusitis, Allergic Fungal ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0301, HLA-DQB1*0302 (human) PMID:15577839|REF_RGD_ID:5147654 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9000906 Oropharyngeal Neoplasms ISO RGD:1353906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27749845 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9001365 Amebic Liver Abscess susceptibility ISO RGD:1353906 D RGD:9068941 20200723 RGD DNA:polymorphism, haplotype: :HLA-DQB1*04, HLA-DQB1*02 PMID:25938667|REF_RGD_ID:36049810 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9001472 Nasal Polyps ISO RGD:1353906 D RGD:9068941 20200609 RGD associated with intrinsic asthma;DNA:polymorphism, haplotype:cds:HLA-DQB1*0202 (human) PMID:10718431|REF_RGD_ID:5147813 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9001472 Nasal Polyps susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:haplotype: : HLA-DQB1*0201; PMID:16890076|REF_RGD_ID:8547658 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9002272 Small Fiber Neuropathy ISO RGD:1353906 D RGD:9068941 20200609 RGD associated with sarcoidosis;DNA:polymorphisms:cds:HLA-DQB1*0602 (human) PMID:16053028|REF_RGD_ID:5147648 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9002605 Delayed Hypersensitivity ISO RGD:3469 D RGD:9068941 20200609 RGD PMID:9834080|REF_RGD_ID:5147666 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9002695 Cataplexy ISO RGD:1353906 D RGD:9068941 20200609 RGD associated with Narcolepsy;DNA:polymorphism (human) PMID:17297265|REF_RGD_ID:5147632 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1353906 D RGD:9068941 20200609 RGD PMID:16194572|REF_RGD_ID:5147647 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3469 D RGD:9068941 20200609 RGD PMID:16723470|PMID:9834080|REF_RGD_ID:5147639|REF_RGD_ID:5147666 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9002780 Recurrent Respiratory Papillomatosis severity ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:HLA-DQB1*0201, HLA-DQB1*0602 (human) PMID:15336778|REF_RGD_ID:5147657 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9002780 Recurrent Respiratory Papillomatosis severity ISO RGD:1353906 D RGD:9068941 20200724 RGD DNA:polymorphism: :HLA-DQB1*0602(human) PMID:19861144|REF_RGD_ID:36174013 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1353906 D RGD:9068941 20200730 RGD DNA:polymorphism:cds:HLA-DQB1*02 (human) PMID:17489060|REF_RGD_ID:36174022 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9004096 Veno-Occlusive Disease ISO RGD:1353906 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell PMID:18272668|REF_RGD_ID:11041760 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9004283 Transplant Rejection ISO RGD:3469 D RGD:9068941 20200609 RGD PMID:1547813|REF_RGD_ID:7421554 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9004486 Drug-induced Neutropenia ISO RGD:1353906 D RGD:9068941 20200609 RGD PMID:27400856|REF_RGD_ID:14928329 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9004576 Sleep Initiation and Maintenance Disorders severity ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:HLA-DQB1*0602 (human) PMID:21292329|REF_RGD_ID:5147604 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9004735 Idiopathic Hypersomnolence ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:19927159|REF_RGD_ID:5147660 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9005236 Drug Eruptions ISO RGD:1353906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9006096 Uterine Cervical Dysplasia susceptibility ISO RGD:1353906 D RGD:9068941 20200717 RGD DNA:polymorphisms: :DQB1*0302, DQB1*0301, DQB1*0601 (human) PMID:16803516|REF_RGD_ID:36049759 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9006404 Tubulointerstitial Nephritis and Uveitis ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:HLA-DQB1*05, HLA-DQB1*0501 (human) PMID:12556395|REF_RGD_ID:5147802 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9007096 Stroke susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:HLA-DQB1*0402 (human) PMID:12373032|REF_RGD_ID:5147804 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9007355 Hashimoto Disease susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:19254248|REF_RGD_ID:5147613 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9007355 Hashimoto Disease susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:polymorphism:cds:HLA-DQB1*0302 (human) PMID:8157715|REF_RGD_ID:7483569 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21570397 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype PMID:26959717|REF_RGD_ID:11573514 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:1353906 D RGD:9068941 20200724 RGD DNA:polymorphism: :HLA-DQB1*05(human) PMID:25250564|REF_RGD_ID:36174016 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9007996 End Stage Liver Disease susceptibility ISO RGD:1353906 D RGD:9068941 20200724 RGD associated with hepatitis C;DNA:polymorphism: :HLA-DQB1*03(human) PMID:11302974|REF_RGD_ID:36174014 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9008103 Seasonal Allergic Rhinitis susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:HLA-DQB1*05 (human) PMID:22032123|REF_RGD_ID:7421561 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9008103 Seasonal Allergic Rhinitis susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:cds:HLA-DQB1*0301, HLA-DQB1*0501 (human) PMID:9641569|REF_RGD_ID:7421576 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9008114 Helicobacter Infections ISO RGD:1353906 D RGD:9068941 20200609 RGD associated with Purpura, Thrombocytopenic, Idiopathic;DNA:polymorphisms (human) PMID:16011982|REF_RGD_ID:5147649 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9008114 Helicobacter Infections susceptibility ISO RGD:1353906 D RGD:9068941 20200717 RGD DNA:polymorphisms: :HLA-DQB1*301, HLA-DQB1*04(human) PMID:15833172|REF_RGD_ID:36049761 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9008163 Chronic Hepatitis B ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:16893387|REF_RGD_ID:5147637 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9008163 Chronic Hepatitis B ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple PMID:29287219|REF_RGD_ID:14865012 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9008163 Chronic Hepatitis B no_association ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:SNP: :rs2856718 (human) PMID:28267888|REF_RGD_ID:14974232 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1353906 D RGD:9068941 20200717 RGD DNA:polymorphism: :HLA-DQB1*07(human) PMID:16237774|REF_RGD_ID:36049762 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9074 systemic lupus erythematosus ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple (human) PMID:18552411|PMID:21658414|REF_RGD_ID:5147560|REF_RGD_ID:5147620 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1353906 D RGD:9068941 20201225 RGD DNA:polymorphisms:cds:HLA-DQB1*0201 (human) PMID:12651073|REF_RGD_ID:40902999 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9119 acute myeloid leukemia ISO RGD:1353906 D RGD:9068941 20200609 RGD PMID:17237562|PMID:20051322|REF_RGD_ID:11041763|REF_RGD_ID:11041776 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9164 achalasia ISO RGD:1353906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24997987 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9164 achalasia ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:SNP::rs28688207 (human) PMID:30788115|REF_RGD_ID:14974238 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9164 achalasia ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:11837716|REF_RGD_ID:5147806 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9164 achalasia ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype PMID:30092016|REF_RGD_ID:14865011 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9182 pemphigus ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:HLA-DQB1*0302, HLA-DQB1*0502 (human) PMID:18780165|REF_RGD_ID:5147619 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9256 colorectal cancer ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:CNVs PMID:31001878|REF_RGD_ID:14974237 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9383 iridocyclitis susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD associated with Juvenile pauciarticular chronic arthritis;DNA:polymorphism:cds:HLA-DQB1*0301 (human) PMID:1625093|REF_RGD_ID:7421584 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9744 type 1 diabetes mellitus ISO RGD:1353906 D RGD:9068941 20230506 CTD CTD Direct Evidence: marker/mechanism PMID:26168013 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9744 type 1 diabetes mellitus ISO RGD:1353906 D RGD:9068941 20230506 RGD PMID:28247576|REF_RGD_ID:14865008 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9744 type 1 diabetes mellitus ISO RGD:1353906 D RGD:9068941 20230506 RGD DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0502 (human) PMID:17728790|REF_RGD_ID:5147626 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9744 type 1 diabetes mellitus ISO RGD:1353906 D RGD:9068941 20230506 RGD associated with Sclerosing Lymphocytic Lobulitis PMID:10562813|REF_RGD_ID:11041764 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotypes:cds:multiple (human) PMID:20510319|REF_RGD_ID:5147575 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotypes:cds:multiple (human) PMID:20858521|REF_RGD_ID:5147569 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:986 alopecia areata susceptibility ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphism: : HLA-DQB1*0604; PMID:16231148|REF_RGD_ID:8547568 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:cds:HLA-DQB1*0501 (human) PMID:9744491|REF_RGD_ID:11041762 11958717 LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1353906 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotypes:cds:multiple PMID:22434102|REF_RGD_ID:11041749 11958732 MEIS3 Meis homeobox 3 gene DOID:630 genetic disease ISO RGD:1318359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11958749 GDF6 growth differentiation factor 6 gene DOID:0060836 isolated microphthalmia 4 ISO RGD:1347722 D RGD:7240710 20180130 OMIM 11958749 GDF6 growth differentiation factor 6 gene DOID:0060836 isolated microphthalmia 4 ISO RGD:1347722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 4 PMID:18425797|PMID:19129173|PMID:23307924|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32737436 11958749 GDF6 growth differentiation factor 6 gene DOID:0080205 CAKUT ISO RGD:1347722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:18425797|PMID:19129173|PMID:23307924|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32737436 11958749 GDF6 growth differentiation factor 6 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1347722 D RGD:7240710 20180130 OMIM 11958749 GDF6 growth differentiation factor 6 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1347722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant PMID:18425797|PMID:19129173|PMID:19864492|PMID:20057906|PMID:20494911|PMID:21070663|PMID:22204637|PMID:23307924|PMID:24033266|PMID:24442880|PMID:25741868|PMID:25741869|PMID:28492532|PMID:32737436|PMID:9129173 11958749 GDF6 growth differentiation factor 6 gene DOID:0081320 multiple synostoses syndrome 4 ISO RGD:1347722 D RGD:7240710 20190315 OMIM 11958749 GDF6 growth differentiation factor 6 gene DOID:0081320 multiple synostoses syndrome 4 ISO RGD:1347722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple synostoses syndrome 4 PMID:25741868|PMID:26643732|PMID:29130651 11958749 GDF6 growth differentiation factor 6 gene DOID:0110217 Leber congenital amaurosis 17 ISO RGD:1347722 D RGD:7240710 20180130 OMIM 11958749 GDF6 growth differentiation factor 6 gene DOID:0110217 Leber congenital amaurosis 17 ISO RGD:1347722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 17 PMID:18425797|PMID:19129173|PMID:19864492|PMID:23307924|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32737436 11958749 GDF6 growth differentiation factor 6 gene DOID:10426 Klippel-Feil syndrome ISO RGD:1347722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CERVICAL VERTEBRAL FUSION, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Klippel-Feil syndrome PMID:18425797|PMID:19129173|PMID:23307924|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32737436 11958749 GDF6 growth differentiation factor 6 gene DOID:630 genetic disease ISO RGD:1347722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11958749 GDF6 growth differentiation factor 6 gene DOID:674 cleft palate ISO RGD:1347722 D RGD:9068941 20200609 RGD PMID:18716610|REF_RGD_ID:12798509 11958749 GDF6 growth differentiation factor 6 gene DOID:9001685 Isolated Microphthalmia with Coloboma 6 ISO RGD:1347722 D RGD:7240710 20180130 OMIM 11958749 GDF6 growth differentiation factor 6 gene DOID:9001685 Isolated Microphthalmia with Coloboma 6 ISO RGD:1347722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6 PMID:18425797|PMID:19129173|PMID:19864492|PMID:23307924|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32737436 11958749 GDF6 growth differentiation factor 6 gene DOID:9296 cleft lip ISO RGD:1347722 D RGD:9068941 20200609 RGD PMID:18716610|REF_RGD_ID:12798509 11958757 CHTF18 chromosome transmission fidelity factor 18 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1321395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 11958757 CHTF18 chromosome transmission fidelity factor 18 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1321395 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11958757 CHTF18 chromosome transmission fidelity factor 18 gene DOID:1826 epilepsy ISO RGD:1321395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11958757 CHTF18 chromosome transmission fidelity factor 18 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1321395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11958757 CHTF18 chromosome transmission fidelity factor 18 gene DOID:630 genetic disease ISO RGD:1321395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11958791 NHERF1 NHERF family PDZ scaffold protein 1 gene DOID:0080078 hypophosphatemic nephrolithiasis/osteoporosis 2 ISO RGD:1342625 D RGD:7240710 20180130 OMIM 11958791 NHERF1 NHERF family PDZ scaffold protein 1 gene DOID:0080078 hypophosphatemic nephrolithiasis/osteoporosis 2 ISO RGD:1342625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 2 PMID:18784102|PMID:24033266|PMID:25326635|PMID:25741868|PMID:28492532|PMID:28893421 11958791 NHERF1 NHERF family PDZ scaffold protein 1 gene DOID:10763 hypertension ISO RGD:708538 D RGD:9068941 20200609 RGD PMID:15311100|REF_RGD_ID:1580741 11958791 NHERF1 NHERF family PDZ scaffold protein 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:1342625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28235801 11958791 NHERF1 NHERF family PDZ scaffold protein 1 gene DOID:585 nephrolithiasis ISO RGD:1342625 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrolithiasis PMID:18784102|PMID:24033266|PMID:28492532|PMID:28893421 11958791 NHERF1 NHERF family PDZ scaffold protein 1 gene DOID:630 genetic disease ISO RGD:1342625 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11958791 NHERF1 NHERF family PDZ scaffold protein 1 gene DOID:784 chronic kidney disease ISO RGD:1342625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:18784102|PMID:25741868|PMID:28492532 11958801 PCMTD1 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 gene DOID:630 genetic disease ISO RGD:1602190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11958845 QRSL1 glutaminyl-tRNA amidotransferase subunit QRSL1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1343877 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 11958845 QRSL1 glutaminyl-tRNA amidotransferase subunit QRSL1 gene DOID:0112117 combined oxidative phosphorylation deficiency 40 ISO RGD:1343877 D RGD:7240710 20200429 OMIM 11958845 QRSL1 glutaminyl-tRNA amidotransferase subunit QRSL1 gene DOID:0112117 combined oxidative phosphorylation deficiency 40 ISO RGD:1343877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 40 PMID:17576681|PMID:25741868|PMID:26741492|PMID:28492532|PMID:29440775|PMID:30283131|PMID:9536098 11958845 QRSL1 glutaminyl-tRNA amidotransferase subunit QRSL1 gene DOID:630 genetic disease ISO RGD:1343877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11958845 QRSL1 glutaminyl-tRNA amidotransferase subunit QRSL1 gene DOID:9000777 Mitochondrial Cardiomyopathy ISO RGD:1343877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, mitochondrial PMID:26741492|PMID:30283131 11958845 QRSL1 glutaminyl-tRNA amidotransferase subunit QRSL1 gene DOID:9008086 Developmental Disabilities ISO RGD:1343877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11958860 CPSF2 cleavage and polyadenylation specific factor 2 gene DOID:0080054 achondrogenesis type IA ISO RGD:1320166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11958860 CPSF2 cleavage and polyadenylation specific factor 2 gene DOID:630 genetic disease ISO RGD:1320166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11958885 SMKR1 small lysine rich protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:7204969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11958885 SMKR1 small lysine rich protein 1 gene DOID:630 genetic disease ISO RGD:7204969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11958890 FBXO4 F-box protein 4 gene DOID:630 genetic disease ISO RGD:1316856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11958890 FBXO4 F-box protein 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11958909 N4BP1 NEDD4 binding protein 1 gene DOID:630 genetic disease ISO RGD:1605706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11958921 LOC100980741 olfactory receptor 13G1 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1349302 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11958921 LOC100980741 olfactory receptor 13G1 gene DOID:1540 parathyroid carcinoma ISO RGD:1349302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11958921 LOC100980741 olfactory receptor 13G1 gene DOID:630 genetic disease ISO RGD:1349302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11958921 LOC100980741 olfactory receptor 13G1 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1349302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome PMID:28492532 11958921 LOC100980741 olfactory receptor 13G1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:0050127 sinusitis ISO RGD:735638 D RGD:9068941 20200611 RGD PMID:21711960|REF_RGD_ID:6483796 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:735638 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:10591 pre-eclampsia ISO RGD:735638 D RGD:9068941 20200611 RGD protein:increased expression:plasma PMID:21722073|REF_RGD_ID:6484119 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:11729 Lyme disease ISO RGD:735638 D RGD:9068941 20200611 RGD mRNA:increased expression:skin PMID:19461880|REF_RGD_ID:6483813 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:12849 autistic disorder ISO RGD:735638 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:19360663|PMID:21328570 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:1287 cardiovascular system disease ISO RGD:735638 D RGD:9068941 20200611 RGD PMID:22119508|REF_RGD_ID:6483791 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:14566 disease of cellular proliferation ISO RGD:735638 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:22261521 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:14566 disease of cellular proliferation ISO RGD:735638 D RGD:9068941 20200611 RGD PMID:14595671|REF_RGD_ID:1549414 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:2043 hepatitis B severity ISO RGD:735638 D RGD:9068941 20200611 RGD protein:increased expression:plasma PMID:18691743|REF_RGD_ID:6483828 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:2957 pulmonary tuberculosis severity ISO RGD:735638 D RGD:9068941 20200611 RGD PMID:18359089|REF_RGD_ID:6483832 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:305 carcinoma ISO RGD:735638 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:15302576 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:5052 melioidosis ISO RGD:735638 D RGD:9068941 20200611 RGD mRNA, protein:increased expression:blood, granulocyte, monocyte PMID:20142364|REF_RGD_ID:6484129 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:5082 liver cirrhosis disease_progression ISO RGD:735638 D RGD:9068941 20200611 RGD protein:increased expression:serum PMID:22098627|REF_RGD_ID:6484116 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735638 D RGD:9068941 20200611 RGD protein:increased expression:plasma PMID:21384094|REF_RGD_ID:6484120 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:526 human immunodeficiency virus infectious disease disease_progression ISO RGD:735638 D RGD:9068941 20200611 RGD PMID:20229356|REF_RGD_ID:6484128 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:5419 schizophrenia ISO RGD:735638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:5844 myocardial infarction ISO RGD:735638 D RGD:9068941 20200611 RGD PMID:12393744|REF_RGD_ID:1580897 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:630 genetic disease ISO RGD:735638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735638 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:7148 rheumatoid arthritis ISO RGD:735638 D RGD:9068941 20200611 RGD PMID:22011479|REF_RGD_ID:6484117 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:783 end stage renal disease ISO RGD:735638 D RGD:9068941 20200611 RGD PMID:19926968|REF_RGD_ID:6483806 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735638 D RGD:9068941 20200611 RGD protein:increased expression:plasma PMID:1304722|REF_RGD_ID:6483787 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:8778 Crohn's disease ISO RGD:735638 D RGD:9068941 20200611 RGD PMID:21114432|REF_RGD_ID:6483800 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:9000169 Systemic Inflammatory Response Syndrome disease_progression ISO RGD:735638 D RGD:9068941 20200611 RGD PMID:18197443|REF_RGD_ID:6484114 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:735638 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:15659795 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:735638 D RGD:9068941 20200611 RGD protein:increased expression:serum PMID:22098627|REF_RGD_ID:6484116 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:9001472 Nasal Polyps ISO RGD:735638 D RGD:9068941 20200611 RGD associated with Sinusitis PMID:21711960|REF_RGD_ID:6483796 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:735638 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:15302576 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:9004484 Sepsis ISO RGD:735638 D RGD:9068941 20200611 RGD protein:increased expression:plasma PMID:22550400|REF_RGD_ID:6483789 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735638 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:22261521 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:9005036 Bacteremia severity ISO RGD:735638 D RGD:9068941 20200611 RGD PMID:21332843|REF_RGD_ID:6483799 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:9005372 Inflammation ISO RGD:735638 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:22261521 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:735638 D RGD:9068941 20200611 RGD protein:increased expression:plasma PMID:22050462|REF_RGD_ID:6483792 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:9471 meningitis disease_progression ISO RGD:735638 D RGD:9068941 20200611 RGD PMID:21971819|REF_RGD_ID:6484118 11958926 PLAUR plasminogen activator, urokinase receptor gene DOID:9970 obesity ISO RGD:735638 D RGD:9068941 20200611 RGD PMID:21372607|REF_RGD_ID:6484121 11958938 PHACTR3 phosphatase and actin regulator 3 gene DOID:630 genetic disease ISO RGD:1605886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11958959 RNF111 ring finger protein 111 gene DOID:2717 Bloom syndrome ISO RGD:1320805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11958959 RNF111 ring finger protein 111 gene DOID:630 genetic disease ISO RGD:1320805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11958959 RNF111 ring finger protein 111 gene DOID:9256 colorectal cancer ISO RGD:1320805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11959006 RTL6 retrotransposon Gag like 6 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1345067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11959006 RTL6 retrotransposon Gag like 6 gene DOID:1059 intellectual disability ISO RGD:1345067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11959006 RTL6 retrotransposon Gag like 6 gene DOID:303 substance-related disorder ISO RGD:1345067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11959006 RTL6 retrotransposon Gag like 6 gene DOID:630 genetic disease ISO RGD:1345067 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11959011 ID3 inhibitor of DNA binding 3 gene DOID:12894 Sjogren's syndrome ISO RGD:1553777 D RGD:9068941 20220825 MouseDO OMIM:270150 11959011 ID3 inhibitor of DNA binding 3 gene DOID:299 adenocarcinoma ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 11959011 ID3 inhibitor of DNA binding 3 gene DOID:305 carcinoma ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11959011 ID3 inhibitor of DNA binding 3 gene DOID:50 thyroid gland disease ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 11959011 ID3 inhibitor of DNA binding 3 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:734069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11959011 ID3 inhibitor of DNA binding 3 gene DOID:630 genetic disease ISO RGD:734069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11959011 ID3 inhibitor of DNA binding 3 gene DOID:8584 Burkitt lymphoma ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143595|PMID:23143597 11959011 ID3 inhibitor of DNA binding 3 gene DOID:863 nervous system disease ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 11959011 ID3 inhibitor of DNA binding 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2860 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord (rat) PMID:11746449|REF_RGD_ID:9686138 11959011 ID3 inhibitor of DNA binding 3 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11959011 ID3 inhibitor of DNA binding 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 11959011 ID3 inhibitor of DNA binding 3 gene DOID:9002928 Colonic Neoplasms ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 11959011 ID3 inhibitor of DNA binding 3 gene DOID:9004009 Reperfusion Injury ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 11959011 ID3 inhibitor of DNA binding 3 gene DOID:9005172 Lung Neoplasms ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 11959011 ID3 inhibitor of DNA binding 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11959011 ID3 inhibitor of DNA binding 3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:734069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11959011 ID3 inhibitor of DNA binding 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11959018 LRCH2 leucine rich repeats and calponin homology domain containing 2 gene DOID:0050753 cerebellar ataxia ISO RGD:1354195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:35351988 11959018 LRCH2 leucine rich repeats and calponin homology domain containing 2 gene DOID:0060165 Kleine-Levin syndrome ISO RGD:1354195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kleine-Levin syndrome 11959018 LRCH2 leucine rich repeats and calponin homology domain containing 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11959018 LRCH2 leucine rich repeats and calponin homology domain containing 2 gene DOID:11476 osteoporosis ISO RGD:1354195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 PMID:24088041|PMID:26633545 11959018 LRCH2 leucine rich repeats and calponin homology domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1354195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11959018 LRCH2 leucine rich repeats and calponin homology domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1354195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11959018 LRCH2 leucine rich repeats and calponin homology domain containing 2 gene DOID:630 genetic disease ISO RGD:1354195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11959048 ENTREP2 endosomal transmembrane epsin interactor 2 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:2311472 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:31690835 11959048 ENTREP2 endosomal transmembrane epsin interactor 2 gene DOID:1059 intellectual disability ISO RGD:2311472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11959048 ENTREP2 endosomal transmembrane epsin interactor 2 gene DOID:12849 autistic disorder ISO RGD:2311472 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 11959048 ENTREP2 endosomal transmembrane epsin interactor 2 gene DOID:1932 Angelman syndrome ISO RGD:2311472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome 11959048 ENTREP2 endosomal transmembrane epsin interactor 2 gene DOID:5419 schizophrenia ISO RGD:2311472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11959048 ENTREP2 endosomal transmembrane epsin interactor 2 gene DOID:630 genetic disease ISO RGD:2311472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11959048 ENTREP2 endosomal transmembrane epsin interactor 2 gene DOID:9001610 Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome ISO RGD:2311472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung disease, immunodeficiency, and chromosome breakage syndrome PMID:20864041|PMID:25741868|PMID:27427983|PMID:28492532 11959088 CTDNEP1 CTD nuclear envelope phosphatase 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1320917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11959088 CTDNEP1 CTD nuclear envelope phosphatase 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1320917 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11959088 CTDNEP1 CTD nuclear envelope phosphatase 1 gene DOID:1059 intellectual disability ISO RGD:1320917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11959088 CTDNEP1 CTD nuclear envelope phosphatase 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1320917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11959088 CTDNEP1 CTD nuclear envelope phosphatase 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1320917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11959088 CTDNEP1 CTD nuclear envelope phosphatase 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1320917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11959088 CTDNEP1 CTD nuclear envelope phosphatase 1 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1320917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 11959100 DST dystonin gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1315255 D RGD:9068941 20220825 MouseDO 11959100 DST dystonin gene DOID:0050700 cardiomyopathy ISO RGD:1605439 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 11959100 DST dystonin gene DOID:0060041 autism spectrum disorder ISO RGD:1605439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11959100 DST dystonin gene DOID:0070151 hereditary sensory and autonomic neuropathy type 6 ISO RGD:1605439 D RGD:7240710 20180130 OMIM 11959100 DST dystonin gene DOID:0070151 hereditary sensory and autonomic neuropathy type 6 ISO RGD:1605439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 6 | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type VI PMID:16199547|PMID:17576681|PMID:20164846|PMID:22522446|PMID:24033266|PMID:25059916|PMID:25741868|PMID:25790160|PMID:28468842|PMID:28492532|PMID:28558912|PMID:30371979|PMID:31474762|PMID:32802955|PMID:33471381|PMID:9536098 11959100 DST dystonin gene DOID:10485 esophageal atresia ISO RGD:1605439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 11959100 DST dystonin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1605439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:28492532 11959100 DST dystonin gene DOID:12377 spinal muscular atrophy ISO RGD:1605439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:16199547|PMID:25059916|PMID:28492532 11959100 DST dystonin gene DOID:630 genetic disease ISO RGD:1605439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:17849487|PMID:22522446|PMID:23056405|PMID:25059916|PMID:25741868|PMID:25790160|PMID:27698030|PMID:28492532|PMID:30371979|PMID:31474762|PMID:32802955|PMID:7670468|PMID:9536098 11959100 DST dystonin gene DOID:9001248 Epidermolysis Bullosa Simplex 3, Localized or Generalized Intermediate, with BP230 Deficiency ISO RGD:1605439 D RGD:7240710 20180130 OMIM 11959100 DST dystonin gene DOID:9001248 Epidermolysis Bullosa Simplex 3, Localized or Generalized Intermediate, with BP230 Deficiency ISO RGD:1605439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive 2 PMID:20164846|PMID:22113475|PMID:22522446|PMID:24033266|PMID:25059916|PMID:25741868|PMID:28492532|PMID:30371979|PMID:31474762|PMID:33471381 11959100 DST dystonin gene DOID:9006519 Generalized Epidermolysis Bullosa Simplex 1D ISO RGD:1605439 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11959233 GLDC glycine decarboxylase gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1318561 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 11959233 GLDC glycine decarboxylase gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1318561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:25741868|PMID:27799067|PMID:28492532 11959233 GLDC glycine decarboxylase gene DOID:0080074 neural tube defect ISO RGD:1623050 D RGD:9068941 20200609 RGD PMID:25736695|REF_RGD_ID:12904662 11959233 GLDC glycine decarboxylase gene DOID:0080600 COVID-19 ISO RGD:1318561 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11959233 GLDC glycine decarboxylase gene DOID:0090056 dystonia 12 ISO RGD:1318561 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dystonia 12 PMID:25741868|PMID:27799067|PMID:28492532 11959233 GLDC glycine decarboxylase gene DOID:10534 stomach cancer ISO RGD:1318561 D RGD:9068941 20200609 RGD mRNA:decreased expression:stomach: PMID:26722042|REF_RGD_ID:12904663 11959233 GLDC glycine decarboxylase gene DOID:10908 hydrocephalus ISO RGD:1623050 D RGD:9068941 20200609 RGD PMID:25736695|REF_RGD_ID:12904662 11959233 GLDC glycine decarboxylase gene DOID:630 genetic disease ISO RGD:1318561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16601880|PMID:16802295|PMID:17576681|PMID:25741868|PMID:26179960|PMID:26467025|PMID:27362913|PMID:27799067|PMID:28244183|PMID:28492532|PMID:29205322|PMID:29988937|PMID:32421718|PMID:32743799|PMID:33524012|PMID:9536098 11959233 GLDC glycine decarboxylase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11959233 GLDC glycine decarboxylase gene DOID:9268 glycine encephalopathy ISO RGD:1318561 D RGD:7240710 20180130 OMIM 11959233 GLDC glycine decarboxylase gene DOID:9268 glycine encephalopathy ISO RGD:1318561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:10798358|PMID:10873393|PMID:11286506|PMID:11592811|PMID:12126939|PMID:12402263|PMID:15192636|PMID:15236413|PMID:15272469|PMID:15670722|PMID:15791207|PMID:15824356|PMID:15851735|PMID:15864413|PMID:16199547|PMID:1634607|PMID:16404748|PMID:16450403|PMID:16601880|PMID:16802295|PMID:17074608|PMID:17361008|PMID:17576681|PMID:18581728|PMID:1996985|PMID:20301531|PMID:20691948|PMID:20933183|PMID:21411353|PMID:22171071|PMID:22206881|PMID:22532538|PMID:22633639|PMID:23349517|PMID:24033266|PMID:24123366|PMID:24407464|PMID:25231368|PMID:25326637|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26179960|PMID:26467025|PMID:26539891|PMID:26749113|PMID:26947380|PMID:26969502|PMID:27362813|PMID:27362913|PMID:273629130|PMID:27535533|PMID:27617160|PMID:27799067|PMID:27884173|PMID:27896094|PMID:28116331|PMID:28244183|PMID:28302194|PMID:28416785|PMID:28468868|PMID:28492532|PMID:28737873|PMID:29046206|PMID:29153744|PMID:29205322|PMID:29232014|PMID:29239742|PMID:29988937|PMID:30609409|PMID:31028937|PMID:31319225|PMID:31785789|PMID:32421718|PMID:32593896|PMID:32743799|PMID:33502061|PMID:33524012|PMID:33977025|PMID:34513771|PMID:445864|PMID:660|PMID:9536098 11959233 GLDC glycine decarboxylase gene DOID:9970 obesity ISO RGD:1318561 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Obesity PMID:10873393|PMID:11286506|PMID:12126939|PMID:15670722|PMID:15791207|PMID:17361008|PMID:20301531|PMID:25741868|PMID:26179960|PMID:27362913|PMID:28492532 11959262 DRAP1 DR1 associated protein 1 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1318268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 11959262 DRAP1 DR1 associated protein 1 gene DOID:1059 intellectual disability ISO RGD:1318268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11959262 DRAP1 DR1 associated protein 1 gene DOID:1909 melanoma ISO RGD:1318268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11959262 DRAP1 DR1 associated protein 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1318268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11959262 DRAP1 DR1 associated protein 1 gene DOID:2746 glycogen storage disease V ISO RGD:1318268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11959262 DRAP1 DR1 associated protein 1 gene DOID:630 genetic disease ISO RGD:1318268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11959262 DRAP1 DR1 associated protein 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1318268 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11959262 DRAP1 DR1 associated protein 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1318268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11959271 NHERF4 NHERF family PDZ scaffold protein 4 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1348843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 11959271 NHERF4 NHERF family PDZ scaffold protein 4 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1348843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11959271 NHERF4 NHERF family PDZ scaffold protein 4 gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1348843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:22742743|PMID:28492532 11959271 NHERF4 NHERF family PDZ scaffold protein 4 gene DOID:0080690 RASopathy ISO RGD:1348843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:22742743|PMID:28492532 11959271 NHERF4 NHERF family PDZ scaffold protein 4 gene DOID:0110651 long QT syndrome 10 ISO RGD:1348843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11959271 NHERF4 NHERF family PDZ scaffold protein 4 gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1348843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates PMID:22742743|PMID:28492532 11959271 NHERF4 NHERF family PDZ scaffold protein 4 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1348843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 11959271 NHERF4 NHERF family PDZ scaffold protein 4 gene DOID:0111971 immunodeficiency 18 ISO RGD:1348843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 11959271 NHERF4 NHERF family PDZ scaffold protein 4 gene DOID:0111972 immunodeficiency 19 ISO RGD:1348843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 11959271 NHERF4 NHERF family PDZ scaffold protein 4 gene DOID:0111973 immunodeficiency 17 ISO RGD:1348843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 11959271 NHERF4 NHERF family PDZ scaffold protein 4 gene DOID:5419 schizophrenia ISO RGD:1348843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11959271 NHERF4 NHERF family PDZ scaffold protein 4 gene DOID:630 genetic disease ISO RGD:1348843 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11959271 NHERF4 NHERF family PDZ scaffold protein 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1348843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11959271 NHERF4 NHERF family PDZ scaffold protein 4 gene DOID:9007661 Dwarfism ISO RGD:1348843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11959297 SHISAL2A shisa like 2A gene DOID:630 genetic disease ISO RGD:1601694 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11959313 DLGAP3 DLG associated protein 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1347439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11959342 C22H22orf42 chromosome 22 C22orf42 homolog gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1604988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 11959342 C22H22orf42 chromosome 22 C22orf42 homolog gene DOID:630 genetic disease ISO RGD:1604988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11959342 C22H22orf42 chromosome 22 C22orf42 homolog gene DOID:9001750 Glucose-Galactose Malabsorption ISO RGD:1604988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital glucose-galactose malabsorption PMID:28492532 11959351 UCN urocortin gene DOID:0060180 colitis ISO RGD:3929 D RGD:9068941 20200609 RGD mRNA:altered expression:distal colon (rat) PMID:21330446|REF_RGD_ID:5490987 11959351 UCN urocortin gene DOID:0080125 mitochondrial DNA depletion syndrome 6 ISO RGD:1349219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Navajo neurohepatopathy PMID:25741868 11959351 UCN urocortin gene DOID:0080855 Parkinsonism ISO RGD:3929 D RGD:9068941 20200609 RGD PMID:21362449|REF_RGD_ID:5508188 11959351 UCN urocortin gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1349219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11959351 UCN urocortin gene DOID:10763 hypertension ISO RGD:1349219 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20237592 11959351 UCN urocortin gene DOID:10763 hypertension ISO RGD:1349219 D RGD:9068941 20200609 RGD associated with Pregnancy Complications;protein:increased expression:plasma PMID:16915033|REF_RGD_ID:1642775 11959351 UCN urocortin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1349219 D RGD:9068941 20200609 RGD PMID:14577573|REF_RGD_ID:1580792 11959351 UCN urocortin gene DOID:12930 dilated cardiomyopathy ISO RGD:1349219 D RGD:9068941 20200609 RGD PMID:14577573|REF_RGD_ID:1580792 11959351 UCN urocortin gene DOID:12930 dilated cardiomyopathy ISO RGD:1349219 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle PMID:11087261|REF_RGD_ID:1642796 11959351 UCN urocortin gene DOID:2030 anxiety disorder ISO RGD:1349219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16488545 11959351 UCN urocortin gene DOID:2841 asthma ISO RGD:3929 D RGD:9068941 20200609 RGD associated with Hypersensitivity;mRNA, protein:increased expression:lung PMID:16427607|REF_RGD_ID:1642781 11959351 UCN urocortin gene DOID:6000 congestive heart failure ISO RGD:1349219 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:19808377|REF_RGD_ID:5490589 11959351 UCN urocortin gene DOID:630 genetic disease ISO RGD:1349219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11959351 UCN urocortin gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3929 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA:increased expression:heart left ventricle PMID:11087261|REF_RGD_ID:1642796 11959351 UCN urocortin gene DOID:9005372 Inflammation ISO RGD:1349219 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10213916 11959351 UCN urocortin gene DOID:9006024 Hypotension ISO RGD:1349219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10213916 11959351 UCN urocortin gene DOID:9007730 Burns ISO RGD:3929 D RGD:9068941 20200609 RGD PMID:16125201|REF_RGD_ID:1642782 11959351 UCN urocortin gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3929 D RGD:9068941 20200609 RGD PMID:15806110|REF_RGD_ID:1642783 11959351 UCN urocortin gene DOID:9970 obesity treatment ISO RGD:735588 D RGD:9068941 20200609 RGD PMID:17932219|REF_RGD_ID:1642774 11959351 Ucn urocortin gene DOID:12918 thromboangiitis obliterans ISO RGD:3929 D RGD:9068941 20200609 RGD PMID:19572944|REF_RGD_ID:5508315 11959357 PSMD4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 gene DOID:0080422 Dravet syndrome ISO RGD:734297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 11959357 PSMD4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:734297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11959357 PSMD4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:734297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11959357 PSMD4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:734297 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11959357 PSMD4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 gene DOID:1540 parathyroid carcinoma ISO RGD:734297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11959357 PSMD4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 gene DOID:5812 MHC class II deficiency ISO RGD:734297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11959357 PSMD4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 gene DOID:630 genetic disease ISO RGD:734297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11959357 PSMD4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11959414 GNL2 G protein nucleolar 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1343978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11959414 GNL2 G protein nucleolar 2 gene DOID:630 genetic disease ISO RGD:1343978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11959439 CBX7 chromobox 7 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1353483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11959439 CBX7 chromobox 7 gene DOID:0080199 colorectal carcinoma disease_progression ISO RGD:1353483 D RGD:9068941 20200609 RGD mRNA:decreased expression::colorectum: PMID:22041561|REF_RGD_ID:9587355 11959439 CBX7 chromobox 7 gene DOID:0080522 thyroid gland anaplastic carcinoma ISO RGD:1353483 D RGD:9068941 20200609 RGD mRNA,protein,DNA:decreased expression, loss of heterozygosity:thyroid gland: PMID:18701502|REF_RGD_ID:9587357 11959439 CBX7 chromobox 7 gene DOID:0080522 thyroid gland anaplastic carcinoma ISO RGD:1353483 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:thyroid gland: PMID:19706751|REF_RGD_ID:9586729 11959439 CBX7 chromobox 7 gene DOID:0080522 thyroid gland anaplastic carcinoma ISO RGD:1550491 D RGD:9068941 20200609 RGD mRNA:decreased expression:thyroid gland: PMID:18701502|REF_RGD_ID:9587357 11959439 CBX7 chromobox 7 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1550491 D RGD:9068941 20200609 RGD PMID:17374722|REF_RGD_ID:11352707 11959439 CBX7 chromobox 7 gene DOID:10283 prostate cancer ISO RGD:1353483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11959439 CBX7 chromobox 7 gene DOID:10534 stomach cancer disease_progression ISO RGD:1353483 D RGD:9068941 20200609 RGD protein:increased expression:stomach: PMID:20723236|REF_RGD_ID:9587358 11959439 CBX7 chromobox 7 gene DOID:11054 urinary bladder cancer severity ISO RGD:1353483 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder (human) PMID:18984978|REF_RGD_ID:9587361 11959439 CBX7 chromobox 7 gene DOID:1612 breast cancer severity ISO RGD:1353483 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:25351982|REF_RGD_ID:11352704 11959439 CBX7 chromobox 7 gene DOID:2671 transitional cell carcinoma severity ISO RGD:1353483 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder: PMID:18984978|REF_RGD_ID:9587361 11959439 CBX7 chromobox 7 gene DOID:3068 glioblastoma disease_progression ISO RGD:1353483 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:astrocyte: PMID:24260522|REF_RGD_ID:9587354 11959439 CBX7 chromobox 7 gene DOID:3459 breast carcinoma severity ISO RGD:1353483 D RGD:9068941 20200609 RGD protein:decreased expression:breast (human) PMID:21779448|REF_RGD_ID:11352698 11959439 CBX7 chromobox 7 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1353483 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:20185297|REF_RGD_ID:9587360 11959439 CBX7 chromobox 7 gene DOID:3910 lung adenocarcinoma ISO RGD:1353483 D RGD:9068941 20200609 RGD mRNA,DNA:decreased expression, loss of heterozygosity:lung: PMID:22214847|REF_RGD_ID:9587356 11959439 CBX7 chromobox 7 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1353483 D RGD:9068941 20200609 RGD mRNA,protein,DNA:decreased expression, loss of heterozygosity:thyroid gland: PMID:18701502|REF_RGD_ID:9587357 11959439 CBX7 chromobox 7 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1550491 D RGD:9068941 20200609 RGD mRNA:decreased expression:thyroid gland (mouse) PMID:18701502|REF_RGD_ID:9587357 11959439 CBX7 chromobox 7 gene DOID:4468 clear cell adenocarcinoma disease_progression ISO RGD:1353483 D RGD:9068941 20200609 RGD PMID:24375438|REF_RGD_ID:9587359 11959439 CBX7 chromobox 7 gene DOID:5517 stomach carcinoma ISO RGD:1353483 D RGD:9068941 20200609 RGD mRNA:decreased expression:stomach: PMID:22041561|REF_RGD_ID:9587355 11959439 CBX7 chromobox 7 gene DOID:630 genetic disease ISO RGD:1353483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11959439 CBX7 chromobox 7 gene DOID:684 hepatocellular carcinoma ISO RGD:1353483 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:22041561|REF_RGD_ID:9587355 11959439 CBX7 chromobox 7 gene DOID:707 B-cell lymphoma ISO RGD:1550491 D RGD:9068941 20200609 RGD PMID:17374722|REF_RGD_ID:11352707 11959439 CBX7 chromobox 7 gene DOID:8161 thyroid gland Hurthle cell carcinoma ISO RGD:1353483 D RGD:9068941 20200609 RGD protein:decreased expression:thyroid Human) PMID:25759796|REF_RGD_ID:11352710 11959439 CBX7 chromobox 7 gene DOID:8692 myeloid leukemia treatment ISO RGD:1353483 D RGD:9068941 20200609 RGD PMID:26343356|REF_RGD_ID:11352715 11959439 CBX7 chromobox 7 gene DOID:9004078 Pancreatic Intraepithelial Neoplasia disease_progression ISO RGD:1353483 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:20185297|REF_RGD_ID:9587360 11959439 CBX7 chromobox 7 gene DOID:9004441 Experimental Leukemia ISO RGD:1550491 D RGD:9068941 20200609 RGD PMID:25434821|REF_RGD_ID:11352713 11959439 CBX7 chromobox 7 gene DOID:9005172 Lung Neoplasms ISO RGD:1353483 D RGD:9068941 20200609 RGD protein:decreased expression:lung (human) PMID:22214847|REF_RGD_ID:9587356 11959439 CBX7 chromobox 7 gene DOID:9005172 Lung Neoplasms ISO RGD:1550491 D RGD:9068941 20200609 RGD PMID:22214847|REF_RGD_ID:9587356 11959439 CBX7 chromobox 7 gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:1353483 D RGD:9068941 20200609 RGD protein:decreased expression:thyroid gland: PMID:18701502|REF_RGD_ID:9587357 11959439 CBX7 chromobox 7 gene DOID:916 liver benign neoplasm ISO RGD:1550491 D RGD:9068941 20200609 RGD PMID:22214847|REF_RGD_ID:9587356 11959439 CBX7 chromobox 7 gene DOID:9538 multiple myeloma ISO RGD:1353483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23955597 11959439 CBX7 chromobox 7 gene DOID:9538 multiple myeloma susceptibility ISO RGD:1353483 D RGD:9068941 20200609 RGD DNA:snp:intron:c.113+3502C>T (human) (rs877529) PMID:23955597|REF_RGD_ID:11352716 11959450 ARMH1 armadillo like helical domain containing 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11959450 ARMH1 armadillo like helical domain containing 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11959450 ARMH1 armadillo like helical domain containing 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11959478 NOS3 nitric oxide synthase 3 gene DOID:0050700 cardiomyopathy ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expression:heart PMID:17589825|REF_RGD_ID:1642825 11959478 NOS3 nitric oxide synthase 3 gene DOID:0050700 cardiomyopathy susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Beta-Thalassemia;DNA:repeats:intron: PMID:25699607|REF_RGD_ID:11533642 11959478 NOS3 nitric oxide synthase 3 gene DOID:0050848 obstructive sleep apnea ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: p. E298D (human) PMID:18651156|REF_RGD_ID:4892052 11959478 NOS3 nitric oxide synthase 3 gene DOID:0050848 obstructive sleep apnea ISO RGD:735618 D RGD:9068941 20200609 RGD associated with heart failure; protein:decreased expression:serum PMID:16806535|REF_RGD_ID:4892059 11959478 NOS3 nitric oxide synthase 3 gene DOID:0050848 obstructive sleep apnea ISO RGD:735618 D RGD:9068941 20200609 RGD protein:decreased expression, decreased phosphorylation:endothelial cells PMID:20159829|REF_RGD_ID:4892051 11959478 NOS3 nitric oxide synthase 3 gene DOID:0050848 obstructive sleep apnea severity ISO RGD:735618 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell PMID:18413499|REF_RGD_ID:4891909 11959478 NOS3 nitric oxide synthase 3 gene DOID:0050852 limb ischemia ISO RGD:735618 D RGD:9068941 20200609 RGD human gene in rat model PMID:12171788|REF_RGD_ID:7794776 11959478 NOS3 nitric oxide synthase 3 gene DOID:0050852 limb ischemia treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:28979692|REF_RGD_ID:13450931 11959478 NOS3 nitric oxide synthase 3 gene DOID:0050852 limb ischemia treatment ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19080171|REF_RGD_ID:7794710 11959478 NOS3 nitric oxide synthase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:735618 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11959478 NOS3 nitric oxide synthase 3 gene DOID:0060180 colitis ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:17947450|REF_RGD_ID:2292124 11959478 NOS3 nitric oxide synthase 3 gene DOID:0060224 atrial fibrillation ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11761419 11959478 NOS3 nitric oxide synthase 3 gene DOID:0060496 respiratory allergy ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphism: :c. -786C>T (human) PMID:18086269|REF_RGD_ID:4892054 11959478 NOS3 nitric oxide synthase 3 gene DOID:0080322 polycystic kidney disease ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:12675853|REF_RGD_ID:11534000 11959478 NOS3 nitric oxide synthase 3 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:735618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 11959478 NOS3 nitric oxide synthase 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.E298D (human) PMID:16458450|REF_RGD_ID:2292076 11959478 NOS3 nitric oxide synthase 3 gene DOID:10591 pre-eclampsia ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11959478 NOS3 nitric oxide synthase 3 gene DOID:10591 pre-eclampsia treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29250138|REF_RGD_ID:13504712 11959478 NOS3 nitric oxide synthase 3 gene DOID:10652 Alzheimer's disease ISO RGD:735618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer disease, late-onset, susceptibility to PMID:10475066|PMID:10510054|PMID:10514107|PMID:11026457|PMID:11354626|PMID:11394896|PMID:11745998|PMID:15007011|PMID:16059745|PMID:16813604|PMID:17165044|PMID:24033266|PMID:25741868|PMID:9737779|PMID:9894802 11959478 NOS3 nitric oxide synthase 3 gene DOID:10652 Alzheimer's disease onset ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:cds:p.E298D (human) PMID:10514107|REF_RGD_ID:1358752 11959478 NOS3 nitric oxide synthase 3 gene DOID:1070 primary open angle glaucoma ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:duplication:intron:IVS4?-?+27 (human) PMID:20069064|REF_RGD_ID:7771573 11959478 NOS3 nitric oxide synthase 3 gene DOID:1070 primary open angle glaucoma ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-690C>T (human) PMID:9493554|REF_RGD_ID:7771575 11959478 NOS3 nitric oxide synthase 3 gene DOID:1070 primary open angle glaucoma ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snps, haplotype:promoter, intron:g.-457C>T, g.IVS5+1182G>A (rs11771443, rs3793342) (human) PMID:21245953|REF_RGD_ID:7775039 11959478 NOS3 nitric oxide synthase 3 gene DOID:1070 primary open angle glaucoma no_association ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:intron:g.IVS15+1759C>A (rs3918188) (human) PMID:21245953|REF_RGD_ID:7775039 11959478 NOS3 nitric oxide synthase 3 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snps, haplotype:promoter, cds:g.-786T>C, p.E298D (human) PMID:22561696|REF_RGD_ID:7775055 11959478 NOS3 nitric oxide synthase 3 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD High Tension;DNA:snps:promoter, intron:g.-786T>C, g.IVS15+1759C>A (rs3918188) (human) PMID:19815736|REF_RGD_ID:7771543 11959478 NOS3 nitric oxide synthase 3 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Hypertension;DNA:snp:promoter:g.-786T>C (rs2070744) (human) PMID:21670344|REF_RGD_ID:7771542 11959478 NOS3 nitric oxide synthase 3 gene DOID:1073 renal hypertension ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:20938214|REF_RGD_ID:4891989 11959478 NOS3 nitric oxide synthase 3 gene DOID:10762 portal hypertension ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:16142243|REF_RGD_ID:1580269 11959478 NOS3 nitric oxide synthase 3 gene DOID:10762 portal hypertension ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta (rat) PMID:10889169|REF_RGD_ID:7794685 11959478 NOS3 nitric oxide synthase 3 gene DOID:10762 portal hypertension ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18070013 11959478 NOS3 nitric oxide synthase 3 gene DOID:10762 portal hypertension treatment ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis, Biliary PMID:29263339|REF_RGD_ID:13504710 11959478 NOS3 nitric oxide synthase 3 gene DOID:10763 hypertension ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:11882615|REF_RGD_ID:1580271 11959478 NOS3 nitric oxide synthase 3 gene DOID:10763 hypertension ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Pregnancy Complications PMID:18047920|REF_RGD_ID:2292113 11959478 NOS3 nitric oxide synthase 3 gene DOID:10763 hypertension ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:brain PMID:20813549|REF_RGD_ID:4891993 11959478 NOS3 nitric oxide synthase 3 gene DOID:10763 hypertension ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11457755|PMID:12947532|PMID:16331104|PMID:19008412|PMID:19407804 11959478 NOS3 nitric oxide synthase 3 gene DOID:10763 hypertension ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:cds:p.E298D (human) PMID:9674630|REF_RGD_ID:1580282 11959478 NOS3 nitric oxide synthase 3 gene DOID:10763 hypertension no_association ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:duplication, snp:intron, cds:IVS4?-?+27, p.E298D (human) PMID:10981549|REF_RGD_ID:1580278 11959478 NOS3 nitric oxide synthase 3 gene DOID:10763 hypertension treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29084084|PMID:29285068|REF_RGD_ID:13446414|REF_RGD_ID:13504683 11959478 NOS3 nitric oxide synthase 3 gene DOID:10808 gastric ulcer ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19066340 11959478 NOS3 nitric oxide synthase 3 gene DOID:10808 gastric ulcer treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29095895|REF_RGD_ID:13446410 11959478 NOS3 nitric oxide synthase 3 gene DOID:10825 essential hypertension ISO RGD:735618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential hypertension PMID:25741868 11959478 NOS3 nitric oxide synthase 3 gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:cds:c.894G>T (rs1799983) (human) PMID:23276910|REF_RGD_ID:7771558 11959478 NOS3 nitric oxide synthase 3 gene DOID:10923 sickle cell anemia severity ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphisms,haplotype:intron,cds:894G>T, -786T>C(human) PMID:24088668|REF_RGD_ID:11533647 11959478 NOS3 nitric oxide synthase 3 gene DOID:10941 intracranial aneurysm ISO RGD:10997 D RGD:9068941 20200609 RGD PMID:21321533|REF_RGD_ID:5131897 11959478 NOS3 nitric oxide synthase 3 gene DOID:10941 intracranial aneurysm ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:21321533|REF_RGD_ID:5131897 11959478 NOS3 nitric oxide synthase 3 gene DOID:10952 nephritis susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Purpura, Schoenlein-Henoch;DNA:polymorphisms,haplotype: :894G>T,-786T>C (human) PMID:22895845|REF_RGD_ID:11533935 11959478 NOS3 nitric oxide synthase 3 gene DOID:11054 urinary bladder cancer ISO RGD:735618 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:10475345|REF_RGD_ID:2292089 11959478 NOS3 nitric oxide synthase 3 gene DOID:11396 pulmonary edema ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:14767587|REF_RGD_ID:5132626 11959478 NOS3 nitric oxide synthase 3 gene DOID:11396 pulmonary edema ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16844920 11959478 NOS3 nitric oxide synthase 3 gene DOID:1168 familial hyperlipidemia ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased phosphorylation:aorta PMID:17895290|REF_RGD_ID:2292129 11959478 NOS3 nitric oxide synthase 3 gene DOID:1168 familial hyperlipidemia ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11457755 11959478 NOS3 nitric oxide synthase 3 gene DOID:11713 diabetic angiopathy ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:cochlea PMID:19241604|REF_RGD_ID:4891384 11959478 NOS3 nitric oxide synthase 3 gene DOID:11713 diabetic angiopathy ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12124201 11959478 NOS3 nitric oxide synthase 3 gene DOID:11713 diabetic angiopathy treatment ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:29329611|REF_RGD_ID:13504708 11959478 NOS3 nitric oxide synthase 3 gene DOID:11840 coronary artery vasospasm ISO RGD:735618 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Coronary artery spasm 1, susceptibility to PMID:10359729|PMID:10475066|PMID:10510054|PMID:10514107|PMID:11026457|PMID:11354626|PMID:11394896|PMID:11745998|PMID:15007011|PMID:16059745|PMID:16813604|PMID:17165044|PMID:24033266|PMID:25741868|PMID:9737779|PMID:9894802 11959478 NOS3 nitric oxide synthase 3 gene DOID:12010 anterior ischemic optic neuropathy susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-786T>C (human) PMID:16633797|REF_RGD_ID:7775040 11959478 NOS3 nitric oxide synthase 3 gene DOID:12236 primary biliary cholangitis ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 11959478 NOS3 nitric oxide synthase 3 gene DOID:12336 male infertility ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25517965 11959478 NOS3 nitric oxide synthase 3 gene DOID:1245 vulva cancer disease_progression ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:repeat:intron PMID:15196865|REF_RGD_ID:2292078 11959478 NOS3 nitric oxide synthase 3 gene DOID:127 leiomyoma ISO RGD:735618 D RGD:9068941 20200609 RGD protein:increased expression:smooth muscle cell PMID:10671823|REF_RGD_ID:2292088 11959478 NOS3 nitric oxide synthase 3 gene DOID:1272 telangiectasis susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with radiation treatment of Breast Neoplasms;DNA:polymorphisms PMID:18027873|REF_RGD_ID:2292067 11959478 NOS3 nitric oxide synthase 3 gene DOID:12858 Huntington's disease ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum (rat) PMID:17850874|REF_RGD_ID:2292130 11959478 NOS3 nitric oxide synthase 3 gene DOID:1287 cardiovascular system disease ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12947532|PMID:20610621 11959478 NOS3 nitric oxide synthase 3 gene DOID:13025 retinopathy of prematurity severity ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:duplication:intron:IVS4?-?+27 (human) PMID:18334945|REF_RGD_ID:7771560 11959478 NOS3 nitric oxide synthase 3 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:10997 D RGD:9068941 20220825 MouseDO OMIM:265380 11959478 NOS3 nitric oxide synthase 3 gene DOID:13241 Behcet's disease no_association ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:duplication:intron:g.IVS4?-?+27 (human) PMID:21957880|REF_RGD_ID:7775050 11959478 NOS3 nitric oxide synthase 3 gene DOID:13241 Behcet's disease no_association ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:cds:p.E298D PMID:16463158|REF_RGD_ID:7771577 11959478 NOS3 nitric oxide synthase 3 gene DOID:13241 Behcet's disease susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human) PMID:15705632|REF_RGD_ID:7775048 11959478 NOS3 nitric oxide synthase 3 gene DOID:13241 Behcet's disease susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:cds:p.E298D (human) PMID:11908569|REF_RGD_ID:7771576 11959478 NOS3 nitric oxide synthase 3 gene DOID:13550 angle-closure glaucoma ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:duplication:intron:IVS4?-?+27 (human) PMID:20069064|REF_RGD_ID:7771573 11959478 NOS3 nitric oxide synthase 3 gene DOID:13550 angle-closure glaucoma susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snps:introns:g.IVS5+1182G>A, g.IVS25+11C>A (rs3793342, rs7830) (human) PMID:23422825|REF_RGD_ID:7775046 11959478 NOS3 nitric oxide synthase 3 gene DOID:13580 cholestasis ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:11352814|REF_RGD_ID:7775033 11959478 NOS3 nitric oxide synthase 3 gene DOID:13619 extrahepatic cholestasis ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 11959478 NOS3 nitric oxide synthase 3 gene DOID:13948 bladder neck obstruction ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder PMID:21256554|REF_RGD_ID:4891960 11959478 NOS3 nitric oxide synthase 3 gene DOID:14228 oligospermia ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29983398 11959478 NOS3 nitric oxide synthase 3 gene DOID:14566 disease of cellular proliferation ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18344980 11959478 NOS3 nitric oxide synthase 3 gene DOID:1459 hypothyroidism ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased activity:ovary (rat) PMID:29214681|REF_RGD_ID:13504721 11959478 NOS3 nitric oxide synthase 3 gene DOID:1485 cystic fibrosis ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: c. 894G>T (human) PMID:12406848|REF_RGD_ID:4892049 11959478 NOS3 nitric oxide synthase 3 gene DOID:1584 acute chest syndrome susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:polymorphism: :-786T>C(human) PMID:14687036|REF_RGD_ID:11533934 11959478 NOS3 nitric oxide synthase 3 gene DOID:1584 acute chest syndrome susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:repeats:intron: PMID:25263931|REF_RGD_ID:11533931 11959478 NOS3 nitric oxide synthase 3 gene DOID:1591 renovascular hypertension ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18641695 11959478 NOS3 nitric oxide synthase 3 gene DOID:1612 breast cancer disease_progression ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:17891484|REF_RGD_ID:2292068 11959478 NOS3 nitric oxide synthase 3 gene DOID:1612 breast cancer no_association ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.E298D (human) PMID:16807677|REF_RGD_ID:2292075 11959478 NOS3 nitric oxide synthase 3 gene DOID:1612 breast cancer susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-786T>C (human) PMID:17063466|REF_RGD_ID:2292074 11959478 NOS3 nitric oxide synthase 3 gene DOID:1875 impotence ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Cocaine-Related Disorders;protein:decreased expression:penis PMID:17420087|REF_RGD_ID:2292142 11959478 NOS3 nitric oxide synthase 3 gene DOID:1875 impotence ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression, decreased activity PMID:20807325|REF_RGD_ID:4891999 11959478 NOS3 nitric oxide synthase 3 gene DOID:1875 impotence ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12002441|PMID:17071732 11959478 NOS3 nitric oxide synthase 3 gene DOID:1875 impotence treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29260891|REF_RGD_ID:13504711 11959478 NOS3 nitric oxide synthase 3 gene DOID:1936 atherosclerosis ISO RGD:10997 D RGD:9068941 20200609 RGD PMID:12163452|REF_RGD_ID:7771607 11959478 NOS3 nitric oxide synthase 3 gene DOID:1936 atherosclerosis ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12677255|PMID:20720404 11959478 NOS3 nitric oxide synthase 3 gene DOID:1936 atherosclerosis susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:exon:c.894G>T (human) PMID:21114134|REF_RGD_ID:7771564 11959478 NOS3 nitric oxide synthase 3 gene DOID:2018 hyperinsulinism ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19008412 11959478 NOS3 nitric oxide synthase 3 gene DOID:2074 intestinal perforation ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18030227 11959478 NOS3 nitric oxide synthase 3 gene DOID:224 transient cerebral ischemia ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:29298658|REF_RGD_ID:13503353 11959478 NOS3 nitric oxide synthase 3 gene DOID:224 transient cerebral ischemia treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:28944915|PMID:29312485|REF_RGD_ID:13450951|REF_RGD_ID:13503330 11959478 NOS3 nitric oxide synthase 3 gene DOID:2316 brain ischemia ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:17600658|PMID:21212863|REF_RGD_ID:2292134|REF_RGD_ID:4891961 11959478 NOS3 nitric oxide synthase 3 gene DOID:2349 arteriosclerosis ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14736551 11959478 NOS3 nitric oxide synthase 3 gene DOID:2394 ovarian cancer disease_progression ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:repeat:intron PMID:12144818|REF_RGD_ID:2298575 11959478 NOS3 nitric oxide synthase 3 gene DOID:2799 bronchiolitis obliterans ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15136885|REF_RGD_ID:4892068 11959478 NOS3 nitric oxide synthase 3 gene DOID:2841 asthma susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:c. -786C>T, -691C>T (human) PMID:16837812|REF_RGD_ID:4892058 11959478 NOS3 nitric oxide synthase 3 gene DOID:2841 asthma susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:repeats:intron PMID:16081038|REF_RGD_ID:4892062 11959478 NOS3 nitric oxide synthase 3 gene DOID:2841 asthma susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snps, repeat, haplotype:promoter, introns, exons:multiple (human) PMID:18486767|REF_RGD_ID:4892053 11959478 NOS3 nitric oxide synthase 3 gene DOID:2843 long QT syndrome ISO RGD:735618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 11959478 NOS3 nitric oxide synthase 3 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:735618 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:9276029|REF_RGD_ID:2292090 11959478 NOS3 nitric oxide synthase 3 gene DOID:299 adenocarcinoma ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 11959478 NOS3 nitric oxide synthase 3 gene DOID:3021 acute kidney failure ISO RGD:3186 D RGD:9068941 20200609 RGD in females;mRNA:increased expression:cortex of kidney (rat) PMID:28947737|REF_RGD_ID:13450947 11959478 NOS3 nitric oxide synthase 3 gene DOID:3021 acute kidney failure ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9788586 11959478 NOS3 nitric oxide synthase 3 gene DOID:3070 high grade glioma ISO RGD:735618 D RGD:9068941 20200609 RGD protein:increased expression:blood vessel endothelial cell PMID:14672505|REF_RGD_ID:2292080 11959478 NOS3 nitric oxide synthase 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21843929 11959478 NOS3 nitric oxide synthase 3 gene DOID:326 ischemia ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15036356 11959478 NOS3 nitric oxide synthase 3 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:735618 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11306434|REF_RGD_ID:4892080 11959478 NOS3 nitric oxide synthase 3 gene DOID:3393 coronary artery disease ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10510054|PMID:14989558|PMID:17267746|PMID:19696404 11959478 NOS3 nitric oxide synthase 3 gene DOID:3393 coronary artery disease ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:duplication:intron:IVS4?-?+27 (human) PMID:8564837|REF_RGD_ID:7421529 11959478 NOS3 nitric oxide synthase 3 gene DOID:3393 coronary artery disease susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:cds:c.894G>T (human) PMID:16284093|REF_RGD_ID:7771567 11959478 NOS3 nitric oxide synthase 3 gene DOID:3393 coronary artery disease susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-786T>C (human) PMID:19761682|REF_RGD_ID:7771578 11959478 NOS3 nitric oxide synthase 3 gene DOID:3426 vestibular disease ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18776599 11959478 NOS3 nitric oxide synthase 3 gene DOID:3526 cerebral infarction ISO RGD:735618 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ischemic stroke PMID:10475066|PMID:10510054|PMID:10514107|PMID:11026457|PMID:11354626|PMID:11394896|PMID:11745998|PMID:15007011|PMID:16059745|PMID:16813604|PMID:17165044|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9737779|PMID:9894802 11959478 NOS3 nitric oxide synthase 3 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased expression:pulmonary artery (rat) PMID:29216632|REF_RGD_ID:13504720 11959478 NOS3 nitric oxide synthase 3 gene DOID:4195 hyperglycemia ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11696579 11959478 NOS3 nitric oxide synthase 3 gene DOID:4449 macular retinal edema susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human) PMID:15333482|REF_RGD_ID:7775044 11959478 NOS3 nitric oxide synthase 3 gene DOID:4676 uremia ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 11959478 NOS3 nitric oxide synthase 3 gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:735618 D RGD:9068941 20210521 RGD DNA:SNP:3'utr: (rs2070744) (human) PMID:21472143|REF_RGD_ID:126925218 11959478 NOS3 nitric oxide synthase 3 gene DOID:5082 liver cirrhosis ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:10535886|REF_RGD_ID:7775034 11959478 NOS3 nitric oxide synthase 3 gene DOID:5082 liver cirrhosis treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:12759254|REF_RGD_ID:7794774 11959478 NOS3 nitric oxide synthase 3 gene DOID:5199 ureteral obstruction ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26207612 11959478 NOS3 nitric oxide synthase 3 gene DOID:5426 primary ovarian insufficiency ISO RGD:735618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11959478 NOS3 nitric oxide synthase 3 gene DOID:5844 myocardial infarction ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:22012955|REF_RGD_ID:7771563 11959478 NOS3 nitric oxide synthase 3 gene DOID:5844 myocardial infarction ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased expression:aorta (rat) PMID:28980197|REF_RGD_ID:13450930 11959478 NOS3 nitric oxide synthase 3 gene DOID:5844 myocardial infarction ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10510054|PMID:16337503 11959478 NOS3 nitric oxide synthase 3 gene DOID:5844 myocardial infarction ISO RGD:735618 D RGD:9068941 20200609 RGD PMID:12362496|REF_RGD_ID:1580283 11959478 NOS3 nitric oxide synthase 3 gene DOID:5844 myocardial infarction ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:duplication:intron:IVS4?-?+27 (human) PMID:11903359|REF_RGD_ID:1580284 11959478 NOS3 nitric oxide synthase 3 gene DOID:5844 myocardial infarction ISO RGD:735618 D RGD:9068941 20200609 RGD human gene in rat model PMID:17637430|REF_RGD_ID:7771561 11959478 NOS3 nitric oxide synthase 3 gene DOID:5844 myocardial infarction susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:repeats:intron PMID:10531147|REF_RGD_ID:5128481 11959478 NOS3 nitric oxide synthase 3 gene DOID:5844 myocardial infarction treatment ISO RGD:10997 D RGD:9068941 20200609 RGD PMID:29311930|REF_RGD_ID:13503346 11959478 NOS3 nitric oxide synthase 3 gene DOID:6000 congestive heart failure ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19168511|PMID:20304815 11959478 NOS3 nitric oxide synthase 3 gene DOID:6000 congestive heart failure treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29351461|REF_RGD_ID:13504746 11959478 NOS3 nitric oxide synthase 3 gene DOID:62 aortic valve disease ISO RGD:10997 D RGD:9068941 20220825 MouseDO 11959478 NOS3 nitric oxide synthase 3 gene DOID:630 genetic disease ISO RGD:735618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11959478 NOS3 nitric oxide synthase 3 gene DOID:6364 migraine ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Glaucoma;DNA:snp, haplotype:promoter:g.-786T>C (human) PMID:16123422|REF_RGD_ID:7771539 11959478 NOS3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:10997 D RGD:9068941 20200609 RGD PMID:19487814|REF_RGD_ID:4892039 11959478 NOS3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:10997 D RGD:9068941 20200609 RGD RNA:increased expression:lung PMID:11686901|REF_RGD_ID:5132631 11959478 NOS3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:17065228|PMID:20215577|REF_RGD_ID:4892038|REF_RGD_ID:4892043 11959478 NOS3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pulmonary endothelial cell PMID:20724942|REF_RGD_ID:4892004 11959478 NOS3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21144100 11959478 NOS3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.E298D (human) PMID:21144100|REF_RGD_ID:4892009 11959478 NOS3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:735618 D RGD:9068941 20200609 RGD associated with chronic obstructive pulmonary disease; DNA:polymorphism:cds:p.G894T (human) PMID:18953956|REF_RGD_ID:4892042 11959478 NOS3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:735618 D RGD:9068941 20200609 RGD associated with heart disease; protein:increased expression:endothelial cell PMID:19912632|REF_RGD_ID:5132602 11959478 NOS3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:735618 D RGD:9068941 20200609 RGD protein:increased expression:arteriole PMID:21111729|REF_RGD_ID:4892010 11959478 NOS3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Beta-Thalassemia;DNA:repeats:intron: PMID:25699607|REF_RGD_ID:11533642 11959478 NOS3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29151278|REF_RGD_ID:13504742 11959478 NOS3 nitric oxide synthase 3 gene DOID:654 overnutrition ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA:decreased expression:renal artery (rat) PMID:28958692|REF_RGD_ID:13450942 11959478 NOS3 nitric oxide synthase 3 gene DOID:674 cleft palate ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 11959478 NOS3 nitric oxide synthase 3 gene DOID:783 end stage renal disease ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus PMID:18089446|REF_RGD_ID:2292109 11959478 NOS3 nitric oxide synthase 3 gene DOID:783 end stage renal disease susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:duplication, snp:intron, cds:g.IVS4?-?+27, p.E298D (human) PMID:12701818|REF_RGD_ID:7777097 11959478 NOS3 nitric oxide synthase 3 gene DOID:784 chronic kidney disease susceptibility ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA:decreased expression:cortex of kidney (rat) PMID:29018182|REF_RGD_ID:13450920 11959478 NOS3 nitric oxide synthase 3 gene DOID:784 chronic kidney disease treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29247650|REF_RGD_ID:13504713 11959478 NOS3 nitric oxide synthase 3 gene DOID:8440 ileus treatment ISO RGD:3186 D RGD:9068941 20220421 RGD PMID:30852906|REF_RGD_ID:151893492 11959478 NOS3 nitric oxide synthase 3 gene DOID:8466 retinal degeneration ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:retina (rat) PMID:16209285|REF_RGD_ID:7775035 11959478 NOS3 nitric oxide synthase 3 gene DOID:8466 retinal degeneration treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:16209285|REF_RGD_ID:7775035 11959478 NOS3 nitric oxide synthase 3 gene DOID:850 lung disease ISO RGD:10997 D RGD:9068941 20200609 RGD lung injury associated with hyperoxia PMID:20497690|REF_RGD_ID:4891426 11959478 NOS3 nitric oxide synthase 3 gene DOID:850 lung disease ISO RGD:10997 D RGD:9068941 20200609 RGD ventilator-induced lung injury PMID:20453164|REF_RGD_ID:4892013 11959478 NOS3 nitric oxide synthase 3 gene DOID:850 lung disease ISO RGD:3186 D RGD:9068941 20200609 RGD lung injury associated with reperfusion injury; protein:decreased expression:lung PMID:21056587|REF_RGD_ID:4892011 11959478 NOS3 nitric oxide synthase 3 gene DOID:865 vasculitis susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.E298D (human) PMID:14583572|REF_RGD_ID:7775052 11959478 NOS3 nitric oxide synthase 3 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23650378 11959478 NOS3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:retina (rat) PMID:23059402|REF_RGD_ID:7771569 11959478 NOS3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:duplication:intron:IVS4?-?+27 (human) PMID:11918626|REF_RGD_ID:7421532 11959478 NOS3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:snps, duplication, haplotype:promoter, cds, intron:g.-786T>C, p.E298N, IVS4?-?+27 (human) PMID:17973941|REF_RGD_ID:7421533 11959478 NOS3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy no_association ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:duplication:intron:IVS4?-?+27 (human) PMID:16581274|PMID:17558849|REF_RGD_ID:7421531|REF_RGD_ID:7775042 11959478 NOS3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy no_association ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:snps, duplication, haplotype:promoter, cds, intron:g.-786T>C, p.E298N, IVS4?-?+27 (human) PMID:22017289|REF_RGD_ID:7777101 11959478 NOS3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy onset ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snps:promoter, exon:c.-786T>C, c.774C>T (human) PMID:15890549|REF_RGD_ID:7771565 11959478 NOS3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy severity ISO RGD:10997 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:20435587|REF_RGD_ID:7771568 11959478 NOS3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:snp:exon:c.894G>T (human) PMID:23776381|REF_RGD_ID:7777103 11959478 NOS3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy treatment ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18840783|REF_RGD_ID:7771606 11959478 NOS3 nitric oxide synthase 3 gene DOID:900 hepatopulmonary syndrome ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis;protein:increased expression:lung PMID:18081228|REF_RGD_ID:2292110 11959478 NOS3 nitric oxide synthase 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:17287083|REF_RGD_ID:4891407 11959478 NOS3 nitric oxide synthase 3 gene DOID:9000081 Lymphatic Metastasis susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;DNA:polymorphisms:promoter, exon:-786T>C,p.E298D (human) PMID:17262178|REF_RGD_ID:2292070 11959478 NOS3 nitric oxide synthase 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 11959478 NOS3 nitric oxide synthase 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11959478 NOS3 nitric oxide synthase 3 gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased expression:kidney: PMID:10908153|REF_RGD_ID:11533936 11959478 NOS3 nitric oxide synthase 3 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA:increased expression:parietal cortex, arteriole (rat) PMID:11273938|REF_RGD_ID:7794687 11959478 NOS3 nitric oxide synthase 3 gene DOID:9000641 Pain ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:18079061|REF_RGD_ID:2292111 11959478 NOS3 nitric oxide synthase 3 gene DOID:9000669 Ventricular Dysfunction, Right ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary PMID:16820570|REF_RGD_ID:4892044 11959478 NOS3 nitric oxide synthase 3 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:10997 D RGD:9068941 20200609 RGD PMID:16714207|REF_RGD_ID:4892061 11959478 NOS3 nitric oxide synthase 3 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:10997 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:19286931|REF_RGD_ID:5132864 11959478 NOS3 nitric oxide synthase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735618 D RGD:9068941 20200609 RGD protein:increased expression:blood vessel endothelial cell PMID:14672505|REF_RGD_ID:2292080 11959478 NOS3 nitric oxide synthase 3 gene DOID:9000965 Neoplasm Metastasis susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;DNA:polymorphism:promoter:-786T>C (human) PMID:14623178|REF_RGD_ID:2292081 11959478 NOS3 nitric oxide synthase 3 gene DOID:9000965 Neoplasm Metastasis susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;DNA:polymorphism PMID:12445681|REF_RGD_ID:2292087 11959478 NOS3 nitric oxide synthase 3 gene DOID:9001390 Testis Reperfusion Injury ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:18205898|REF_RGD_ID:2292105 11959478 NOS3 nitric oxide synthase 3 gene DOID:9001472 Nasal Polyps ISO RGD:735618 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa (human) PMID:15942806|REF_RGD_ID:7771559 11959478 NOS3 nitric oxide synthase 3 gene DOID:9001553 Spinal Cord Compression treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29323048|REF_RGD_ID:13504709 11959478 NOS3 nitric oxide synthase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:17918268|REF_RGD_ID:2292126 11959478 NOS3 nitric oxide synthase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased expression:spleen PMID:17481668|REF_RGD_ID:2292140 11959478 NOS3 nitric oxide synthase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18555214 11959478 NOS3 nitric oxide synthase 3 gene DOID:9001650 Pregnancy-Induced Hypertension ISO RGD:735618 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertension, pregnancy-induced, susceptibility to PMID:10475066|PMID:10510054|PMID:10514107|PMID:11026457|PMID:11354626|PMID:11394896|PMID:11745998|PMID:15007011|PMID:16059745|PMID:16813604|PMID:17165044|PMID:24033266|PMID:25741868|PMID:9737779|PMID:9894802 11959478 NOS3 nitric oxide synthase 3 gene DOID:9001708 Hemorrhagic Shock ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA:increased expression: :multiple PMID:15854664|REF_RGD_ID:1580937 11959478 NOS3 nitric oxide synthase 3 gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29122552|REF_RGD_ID:13450929 11959478 NOS3 nitric oxide synthase 3 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA:altered expression:retina (rat) PMID:9950605|REF_RGD_ID:7771570 11959478 NOS3 nitric oxide synthase 3 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:retinal vasculature, retinal ganglion cell layer (rat) PMID:12634478|REF_RGD_ID:7775037 11959478 NOS3 nitric oxide synthase 3 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:11496119|REF_RGD_ID:7775036 11959478 NOS3 nitric oxide synthase 3 gene DOID:9001955 Diabetic Gastroparesis ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA:decreased expression:pyloric antrum (rat) PMID:29071981|REF_RGD_ID:13446417 11959478 NOS3 nitric oxide synthase 3 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:28966130|REF_RGD_ID:13450941 11959478 NOS3 nitric oxide synthase 3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20042665 11959478 NOS3 nitric oxide synthase 3 gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:duplication:intron:IVS4?-?+27 (human) PMID:10741691|REF_RGD_ID:7421534 11959478 NOS3 nitric oxide synthase 3 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:duplication:intron:IVS4?-?+27 (human) PMID:10868974|REF_RGD_ID:7421530 11959478 NOS3 nitric oxide synthase 3 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:29336891|REF_RGD_ID:13504726 11959478 NOS3 nitric oxide synthase 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3186 D RGD:9068941 20200609 RGD RNA, protein:increased expression:thoracic aorta: PMID:29741931|REF_RGD_ID:13792602 11959478 NOS3 nitric oxide synthase 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3186 D RGD:9068941 20200609 RGD associated with hyperinsulinemia; protein:decreased expression:placenta PMID:19709742|REF_RGD_ID:5132592 11959478 NOS3 nitric oxide synthase 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22421449|PMID:23667712 11959478 NOS3 nitric oxide synthase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12429631|PMID:12445681|PMID:16458450 11959478 NOS3 nitric oxide synthase 3 gene DOID:9002321 Teratozoospermia ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29983398 11959478 NOS3 nitric oxide synthase 3 gene DOID:9002371 Cardiotoxicity treatment ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphism: :894G>T(human) PMID:26345518|REF_RGD_ID:11533645 11959478 NOS3 nitric oxide synthase 3 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29337196|REF_RGD_ID:13504725 11959478 NOS3 nitric oxide synthase 3 gene DOID:9002669 Hypoxia ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10956627 11959478 NOS3 nitric oxide synthase 3 gene DOID:9003104 Intracranial Hemorrhages treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29203281|REF_RGD_ID:13504724 11959478 NOS3 nitric oxide synthase 3 gene DOID:9003121 Thromboembolism susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:repeats:intron PMID:10531147|REF_RGD_ID:5128481 11959478 NOS3 nitric oxide synthase 3 gene DOID:9003197 Vaso-occlusive Crisis susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:repeats:intron: PMID:25263931|REF_RGD_ID:11533931 11959478 NOS3 nitric oxide synthase 3 gene DOID:9003230 Graft Occlusion, Vascular susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:repeats:intron PMID:17365407|REF_RGD_ID:11533930 11959478 NOS3 nitric oxide synthase 3 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-786T>C (human) PMID:18086269|REF_RGD_ID:4892054 11959478 NOS3 nitric oxide synthase 3 gene DOID:9003817 Sudden Hearing Loss ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:cds:p.E298D (rs1799983) (human) PMID:23560644|REF_RGD_ID:7771541 11959478 NOS3 nitric oxide synthase 3 gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with orthopedic surgery;DNA:SNP::rs1799983(human) PMID:23922896|REF_RGD_ID:11533639 11959478 NOS3 nitric oxide synthase 3 gene DOID:9003936 Cardiomegaly ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:17487232|REF_RGD_ID:2289120 11959478 NOS3 nitric oxide synthase 3 gene DOID:9003936 Cardiomegaly ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11504159|PMID:12224825|PMID:16844920|PMID:17487232 11959478 NOS3 nitric oxide synthase 3 gene DOID:9003936 Cardiomegaly treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29331788|REF_RGD_ID:13504707 11959478 NOS3 nitric oxide synthase 3 gene DOID:9004009 Reperfusion Injury ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21968084 11959478 NOS3 nitric oxide synthase 3 gene DOID:9004240 Phyllodes Tumor ISO RGD:735618 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:15917410|REF_RGD_ID:2292077 11959478 NOS3 nitric oxide synthase 3 gene DOID:9004250 Hepatic Insufficiency ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 11959478 NOS3 nitric oxide synthase 3 gene DOID:9004283 Transplant Rejection treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29218089|REF_RGD_ID:13504718 11959478 NOS3 nitric oxide synthase 3 gene DOID:9004484 Sepsis ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20035746 11959478 NOS3 nitric oxide synthase 3 gene DOID:9004484 Sepsis ISO RGD:735618 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:17999941|REF_RGD_ID:2292119 11959478 NOS3 nitric oxide synthase 3 gene DOID:9004590 Acute Liver Failure ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:17276928|REF_RGD_ID:2292148 11959478 NOS3 nitric oxide synthase 3 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:cardiac myocyte (rat) PMID:9747440|REF_RGD_ID:7794715 11959478 NOS3 nitric oxide synthase 3 gene DOID:9004756 Brain Hypoxia ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:caudate putamen (rat) PMID:14980808|REF_RGD_ID:7794714 11959478 NOS3 nitric oxide synthase 3 gene DOID:9005141 Ventricular Tachycardia ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11761419 11959478 NOS3 nitric oxide synthase 3 gene DOID:9005369 Hepatomegaly ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 11959478 NOS3 nitric oxide synthase 3 gene DOID:9005396 Intimal Hyperplasia treatment ISO RGD:735618 D RGD:9068941 20200609 RGD PMID:9576106|REF_RGD_ID:11534002 11959478 NOS3 nitric oxide synthase 3 gene DOID:9005605 Arteriovenous Fistula ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:vena cava PMID:17344190|REF_RGD_ID:2292146 11959478 NOS3 nitric oxide synthase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10997 D RGD:9068941 20200609 RGD protein:decreased expression:thoracic aorta (mouse) PMID:21050844|REF_RGD_ID:7777108 11959478 NOS3 nitric oxide synthase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:18825362|REF_RGD_ID:4892007 11959478 NOS3 nitric oxide synthase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:18287592|REF_RGD_ID:2292100 11959478 NOS3 nitric oxide synthase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11696579|PMID:14871415|PMID:15490108|PMID:16959961|PMID:18266981|PMID:19478208|PMID:22191573|PMID:22933112 11959478 NOS3 nitric oxide synthase 3 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:10997 D RGD:9068941 20200609 RGD PMID:21050844|REF_RGD_ID:7777108 11959478 NOS3 nitric oxide synthase 3 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:28976888|REF_RGD_ID:13450939 11959478 NOS3 nitric oxide synthase 3 gene DOID:9005930 Endotoxemia ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:aorta (rat) PMID:10462376|REF_RGD_ID:7794732 11959478 NOS3 nitric oxide synthase 3 gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary PMID:22022327|REF_RGD_ID:7794708 11959478 NOS3 nitric oxide synthase 3 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:pulmonary artery PMID:9950873|REF_RGD_ID:11533933 11959478 NOS3 nitric oxide synthase 3 gene DOID:9006182 Carotid Artery Injuries treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29207649|REF_RGD_ID:13504723 11959478 NOS3 nitric oxide synthase 3 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29291552|REF_RGD_ID:13504682 11959478 NOS3 nitric oxide synthase 3 gene DOID:9006599 Hypertriglyceridemia ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased expression:aorta PMID:17824809|REF_RGD_ID:2292131 11959478 NOS3 nitric oxide synthase 3 gene DOID:9006646 Metabolic Syndrome ISO RGD:735618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to PMID:28361419 11959478 NOS3 nitric oxide synthase 3 gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:28967023|REF_RGD_ID:13461762 11959478 NOS3 nitric oxide synthase 3 gene DOID:9006738 Hypertension Resistant to Conventional Therapy ISO RGD:735618 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertension resistant to conventional therapy PMID:10475066|PMID:10510054|PMID:10514107|PMID:11026457|PMID:11354626|PMID:11394896|PMID:11745998|PMID:15007011|PMID:16059745|PMID:16813604|PMID:17165044|PMID:24033266|PMID:25741868|PMID:9737779|PMID:9894802 11959478 NOS3 nitric oxide synthase 3 gene DOID:9006827 Lung Reperfusion Injury ISO RGD:10997 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:25382268|REF_RGD_ID:11533932 11959478 NOS3 nitric oxide synthase 3 gene DOID:9006827 Lung Reperfusion Injury ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:20815765|REF_RGD_ID:4892012 11959478 NOS3 nitric oxide synthase 3 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:29274332|REF_RGD_ID:13504685 11959478 NOS3 nitric oxide synthase 3 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11761419 11959478 NOS3 nitric oxide synthase 3 gene DOID:9007096 Stroke ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:18234158|REF_RGD_ID:2292103 11959478 NOS3 nitric oxide synthase 3 gene DOID:9007096 Stroke susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:repeats:intron: PMID:25263931|REF_RGD_ID:11533931 11959478 NOS3 nitric oxide synthase 3 gene DOID:9007096 Stroke treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29152647|REF_RGD_ID:13504814 11959478 NOS3 nitric oxide synthase 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:735618 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ischemic heart disease, susceptibility to PMID:10475066|PMID:10510054|PMID:10514107|PMID:11026457|PMID:11354626|PMID:11394896|PMID:11745998|PMID:15007011|PMID:16059745|PMID:16813604|PMID:17165044|PMID:24033266|PMID:25741868|PMID:9737779|PMID:9894802 11959478 NOS3 nitric oxide synthase 3 gene DOID:9007102 Myocardial Ischemia susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:duplication, snp:intron, cds:g.IVS4?-?+27, p.E298D (human) PMID:15007011|REF_RGD_ID:7777100 11959478 NOS3 nitric oxide synthase 3 gene DOID:9007370 Child Behavior Disorders susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated withPrecursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymprphism,haplotype: :-786T>C(human) PMID:23612386|REF_RGD_ID:11533937 11959478 NOS3 nitric oxide synthase 3 gene DOID:9007480 Hyperoxia ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung PMID:17937862|REF_RGD_ID:2292125 11959478 NOS3 nitric oxide synthase 3 gene DOID:9007692 Insulin Resistance ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:18298918|REF_RGD_ID:2292098 11959478 NOS3 nitric oxide synthase 3 gene DOID:9007692 Insulin Resistance ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11457755|PMID:12716763|PMID:12947532|PMID:19008412 11959478 NOS3 nitric oxide synthase 3 gene DOID:9007692 Insulin Resistance treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:28946194|REF_RGD_ID:13450950 11959478 NOS3 nitric oxide synthase 3 gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:16610051|REF_RGD_ID:7777112 11959478 NOS3 nitric oxide synthase 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:18390819|PMID:20828747|REF_RGD_ID:2292091|REF_RGD_ID:4891991 11959478 NOS3 nitric oxide synthase 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12354446 11959478 NOS3 nitric oxide synthase 3 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29274587|PMID:29299201|REF_RGD_ID:13503347|REF_RGD_ID:13504684 11959478 NOS3 nitric oxide synthase 3 gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:15703700|REF_RGD_ID:13824977 11959478 NOS3 nitric oxide synthase 3 gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with carcinoma, non-small-cell lung;DNA:SNP:cds:c.894G>T rs1799983 (human) PMID:20811626|REF_RGD_ID:5131286 11959478 NOS3 nitric oxide synthase 3 gene DOID:9008939 Breast Neoplasms ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15375496|PMID:19671875 11959478 NOS3 nitric oxide synthase 3 gene DOID:9009039 Hyperemia ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:SNP: :894G>T (human) PMID:11668050|REF_RGD_ID:7777102 11959478 NOS3 nitric oxide synthase 3 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung PMID:7576705|REF_RGD_ID:5132862 11959478 NOS3 nitric oxide synthase 3 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7576705|PMID:8863223 11959478 NOS3 nitric oxide synthase 3 gene DOID:9009107 Drug-Induced Enteropathy treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29064425|REF_RGD_ID:13450913 11959478 NOS3 nitric oxide synthase 3 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphgism: : 894 G>T(human) PMID:24684492|REF_RGD_ID:11533640 11959478 NOS3 nitric oxide synthase 3 gene DOID:9220 central sleep apnea ISO RGD:735618 D RGD:9068941 20200609 RGD associated with heart failure; protein:decreased expression:serum PMID:16806535|REF_RGD_ID:4892059 11959478 NOS3 nitric oxide synthase 3 gene DOID:9296 cleft lip ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 11959478 NOS3 nitric oxide synthase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:18356581|REF_RGD_ID:2292097 11959478 NOS3 nitric oxide synthase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12716763|PMID:16959961 11959478 NOS3 nitric oxide synthase 3 gene DOID:9477 pulmonary embolism ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:17219957|REF_RGD_ID:2292151 11959478 NOS3 nitric oxide synthase 3 gene DOID:9498 pulmonary eosinophilia ISO RGD:10997 D RGD:9068941 20200609 RGD PMID:16714207|REF_RGD_ID:4892061 11959478 NOS3 nitric oxide synthase 3 gene DOID:9667 placental abruption ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11354626 11959478 NOS3 nitric oxide synthase 3 gene DOID:9675 pulmonary emphysema ISO RGD:10997 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung PMID:20956973|REF_RGD_ID:4891415 11959478 NOS3 nitric oxide synthase 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21666113 11959478 NOS3 nitric oxide synthase 3 gene DOID:9778 irritable bowel syndrome ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:23691109|REF_RGD_ID:7771566 11959478 NOS3 nitric oxide synthase 3 gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype:cds,intron:P.E298D,-786T>C(human) PMID:20510681|REF_RGD_ID:11533646 11959478 NOS3 nitric oxide synthase 3 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:SNP: :rs3918186(human) PMID:23922896|REF_RGD_ID:11533639 11959478 NOS3 nitric oxide synthase 3 gene DOID:9970 obesity ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased expression:artery PMID:17623751|REF_RGD_ID:2292133 11959478 NOS3 nitric oxide synthase 3 gene DOID:9970 obesity treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29180887|REF_RGD_ID:13504728 11959508 AP4B1 adaptor related protein complex 4 subunit beta 1 gene DOID:0080690 RASopathy ISO RGD:1321485 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11959508 AP4B1 adaptor related protein complex 4 subunit beta 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1321485 D RGD:7240710 20180130 OMIM 11959508 AP4B1 adaptor related protein complex 4 subunit beta 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1321485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AP4-related intellectual disability and spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:16199547|PMID:17576681|PMID:18414213|PMID:21440262|PMID:21620353|PMID:22290197|PMID:24700674|PMID:24781758|PMID:25167861|PMID:25693842|PMID:25741868|PMID:26544806|PMID:27625858|PMID:28492532|PMID:29193663|PMID:31915823|PMID:32964447|PMID:32979048|PMID:33594065|PMID:9536098 11959508 AP4B1 adaptor related protein complex 4 subunit beta 1 gene DOID:1059 intellectual disability ISO RGD:1321485 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21440262|PMID:21620353|PMID:22290197|PMID:24700674|PMID:24781758|PMID:25167861|PMID:25741868|PMID:26544806|PMID:28492532|PMID:29193663|PMID:32979048 11959508 AP4B1 adaptor related protein complex 4 subunit beta 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1321485 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18414213|PMID:22290197|PMID:24700674|PMID:24781758|PMID:25167861|PMID:25741868|PMID:26544806|PMID:28492532|PMID:28832565|PMID:29193663|PMID:32979048|PMID:33594065 11959508 AP4B1 adaptor related protein complex 4 subunit beta 1 gene DOID:607 paraplegia ISO RGD:1321485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:17576681|PMID:18414213|PMID:21440262|PMID:21620353|PMID:22290197|PMID:24700674|PMID:24781758|PMID:25693842|PMID:25741868|PMID:26539891|PMID:27625858|PMID:28492532|PMID:29193663|PMID:31915823|PMID:32979048|PMID:33594065|PMID:9536098 11959508 AP4B1 adaptor related protein complex 4 subunit beta 1 gene DOID:630 genetic disease ISO RGD:1321485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:21440262|PMID:21620353|PMID:22290197|PMID:24700674|PMID:24781758|PMID:25167861|PMID:25693842|PMID:25741868|PMID:26544806|PMID:27625858|PMID:28492532|PMID:29193663|PMID:31915823|PMID:32979048|PMID:9536098 11959508 AP4B1 adaptor related protein complex 4 subunit beta 1 gene DOID:9001272 Hoyeraal Hreidarsson Syndrome ISO RGD:1321485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome PMID:28492532 11959508 AP4B1 adaptor related protein complex 4 subunit beta 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1321485 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:21440262|PMID:21620353|PMID:22290197|PMID:24700674|PMID:24781758|PMID:25741868|PMID:28492532|PMID:29193663|PMID:32979048 11959538 OGDH oxoglutarate dehydrogenase gene DOID:0081326 oxoglutarate dehydrogenase deficiency ISO RGD:1353072 D RGD:7240710 20180130 OMIM 11959538 OGDH oxoglutarate dehydrogenase gene DOID:0081326 oxoglutarate dehydrogenase deficiency ISO RGD:1353072 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 2 alpha ketoglutarate dehydrogenase deficiency | ClinVar Annotator: match by term: Alpha-ketoglutarate dehydrogenase deficiency PMID:17576681|PMID:25741868|PMID:28492532|PMID:32383294|PMID:36520152|PMID:9536098 11959538 OGDH oxoglutarate dehydrogenase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11959538 OGDH oxoglutarate dehydrogenase gene DOID:630 genetic disease ISO RGD:1353072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11959538 OGDH oxoglutarate dehydrogenase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11959572 HSPA2 heat shock protein family A (Hsp70) member 2 gene DOID:630 genetic disease ISO RGD:735843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11959572 HSPA2 heat shock protein family A (Hsp70) member 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:735843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 11959572 HSPA2 heat shock protein family A (Hsp70) member 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:735843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11959577 PPP1R16A protein phosphatase 1 regulatory subunit 16A gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1317459 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 11959577 PPP1R16A protein phosphatase 1 regulatory subunit 16A gene DOID:4621 holoprosencephaly ISO RGD:1317459 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11959577 PPP1R16A protein phosphatase 1 regulatory subunit 16A gene DOID:630 genetic disease ISO RGD:1317459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11959592 PAGE1 PAGE family member 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344360 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11959592 PAGE1 PAGE family member 1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1344360 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 11959592 PAGE1 PAGE family member 1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1344360 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11959592 PAGE1 PAGE family member 1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1344360 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11959592 PAGE1 PAGE family member 1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1344360 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11959592 PAGE1 PAGE family member 1 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1344360 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 11959592 PAGE1 PAGE family member 1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1344360 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 11959592 PAGE1 PAGE family member 1 gene DOID:12849 autistic disorder ISO RGD:1344360 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11959592 PAGE1 PAGE family member 1 gene DOID:630 genetic disease ISO RGD:1344360 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11959598 HOXB8 homeobox B8 gene DOID:0050587 trichotillomania ISO RGD:1345658 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11779477 11959598 HOXB8 homeobox B8 gene DOID:0050587 trichotillomania ISO RGD:1557995 D RGD:9068941 20220825 MouseDO OMIM:613229 11959598 HOXB8 homeobox B8 gene DOID:10933 obsessive-compulsive disorder ISO RGD:1345658 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11779477 11959598 HOXB8 homeobox B8 gene DOID:630 genetic disease ISO RGD:1345658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11959629 KRTCAP3 keratinocyte associated protein 3 gene DOID:0081009 Bardet-Biedl syndrome 20 ISO RGD:1342898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 20 PMID:25168386 11959629 KRTCAP3 keratinocyte associated protein 3 gene DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly ISO RGD:1342898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly PMID:11030072|PMID:16199547|PMID:17576681|PMID:24140113|PMID:25664603|PMID:25741868|PMID:28492532|PMID:33393400|PMID:9536098 11959629 KRTCAP3 keratinocyte associated protein 3 gene DOID:0110363 retinitis pigmentosa 71 ISO RGD:1342898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 71 PMID:25168386 11959629 KRTCAP3 keratinocyte associated protein 3 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1342898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 11959629 KRTCAP3 keratinocyte associated protein 3 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1342898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11959629 KRTCAP3 keratinocyte associated protein 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1342898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11030072|PMID:24140113|PMID:25664603|PMID:25741868|PMID:28492532 11959629 KRTCAP3 keratinocyte associated protein 3 gene DOID:630 genetic disease ISO RGD:1342898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11959642 DNAH8 dynein axonemal heavy chain 8 gene DOID:0050117 disease by infectious agent ISO RGD:1348996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent infections PMID:25741868 11959642 DNAH8 dynein axonemal heavy chain 8 gene DOID:0112164 spermatogenic failure 46 ISO RGD:1348996 D RGD:7240710 20201202 OMIM 11959642 DNAH8 dynein axonemal heavy chain 8 gene DOID:0112164 spermatogenic failure 46 ISO RGD:1348996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 46 PMID:24033266|PMID:25741868|PMID:28492532|PMID:32619401|PMID:32681648 11959642 DNAH8 dynein axonemal heavy chain 8 gene DOID:10283 prostate cancer ISO RGD:1348996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11959642 DNAH8 dynein axonemal heavy chain 8 gene DOID:303 substance-related disorder ISO RGD:1348996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11959642 DNAH8 dynein axonemal heavy chain 8 gene DOID:630 genetic disease ISO RGD:1348996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 11959642 DNAH8 dynein axonemal heavy chain 8 gene DOID:9004890 Paranoid Disorders ISO RGD:1348996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 11959642 DNAH8 dynein axonemal heavy chain 8 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1348996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 11959642 DNAH8 dynein axonemal heavy chain 8 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1348996 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:24033266|PMID:24307375|PMID:25741868|PMID:28492532|PMID:31213628|PMID:32037394|PMID:32619401|PMID:32681648|PMID:9536098 11959739 SNRNP27 small nuclear ribonucleoprotein U4/U6.U5 subunit 27 gene DOID:0060224 atrial fibrillation ISO RGD:1605404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 11959739 SNRNP27 small nuclear ribonucleoprotein U4/U6.U5 subunit 27 gene DOID:630 genetic disease ISO RGD:1605404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11959753 BPTF bromodomain PHD finger transcription factor gene DOID:1059 intellectual disability ISO RGD:1315998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28942966 11959753 BPTF bromodomain PHD finger transcription factor gene DOID:10652 Alzheimer's disease ISO RGD:1315998 D RGD:9068941 20200609 RGD protein:increased expression:microglia: PMID:9792236|REF_RGD_ID:9586059 11959753 BPTF bromodomain PHD finger transcription factor gene DOID:10907 microcephaly ISO RGD:1315998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11959753 BPTF bromodomain PHD finger transcription factor gene DOID:11054 urinary bladder cancer ISO RGD:1315998 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121791 11959753 BPTF bromodomain PHD finger transcription factor gene DOID:12849 autistic disorder ISO RGD:1315998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 11959753 BPTF bromodomain PHD finger transcription factor gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1315998 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal cord: PMID:9225734|REF_RGD_ID:9586057 11959753 BPTF bromodomain PHD finger transcription factor gene DOID:630 genetic disease ISO RGD:1315998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25954003|PMID:27452334|PMID:27618451|PMID:28490743|PMID:28492532|PMID:28942966|PMID:33522091 11959753 BPTF bromodomain PHD finger transcription factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 11959753 BPTF bromodomain PHD finger transcription factor gene DOID:9008086 Developmental Disabilities ISO RGD:1315998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28942966 11959753 BPTF bromodomain PHD finger transcription factor gene DOID:9009097 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies ISO RGD:1315998 D RGD:7240710 20190315 OMIM 11959753 BPTF bromodomain PHD finger transcription factor gene DOID:9009097 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies ISO RGD:1315998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532|PMID:28942966|PMID:33522091 11959785 IL4R interleukin 4 receptor gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q551R (human) PMID:11164908|REF_RGD_ID:1358313 11959785 IL4R interleukin 4 receptor gene DOID:0060500 drug allergy ISO RGD:10798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 11959785 IL4R interleukin 4 receptor gene DOID:0080600 COVID-19 ISO RGD:735615 D RGD:9068941 20200618 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11959785 IL4R interleukin 4 receptor gene DOID:10533 viral pneumonia ISO RGD:735615 D RGD:9068941 20200618 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11959785 IL4R interleukin 4 receptor gene DOID:11204 allergic conjunctivitis susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD associated with rhinitis; DNA:SNP: : rs2107356 (human) PMID:20002627|REF_RGD_ID:4890389 11959785 IL4R interleukin 4 receptor gene DOID:11963 esophagitis susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD associated with carcinoma, non-small-cell lung;DNA:SNP: :rs1801275(human) PMID:20811626|REF_RGD_ID:5131286 11959785 IL4R interleukin 4 receptor gene DOID:12053 cryptococcosis ISO RGD:10798 D RGD:9068941 20200609 RGD PMID:18954266|REF_RGD_ID:4890005 11959785 IL4R interleukin 4 receptor gene DOID:1793 pancreatic cancer disease_progression ISO RGD:735615 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:18758789|REF_RGD_ID:2317669 11959785 IL4R interleukin 4 receptor gene DOID:2377 multiple sclerosis ISO RGD:735615 D RGD:9068941 20200609 RGD PMID:14712310|REF_RGD_ID:4890395 11959785 IL4R interleukin 4 receptor gene DOID:2841 asthma ISO RGD:10798 D RGD:9068941 20200609 RGD PMID:20605987|PMID:20953944|REF_RGD_ID:5128514|REF_RGD_ID:5128553 11959785 IL4R interleukin 4 receptor gene DOID:2841 asthma ISO RGD:10798 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.Q576R (mouse) PMID:19770271|REF_RGD_ID:4890003 11959785 IL4R interleukin 4 receptor gene DOID:2841 asthma ISO RGD:10798 D RGD:9068941 20220825 MouseDO OMIM:600807 11959785 IL4R interleukin 4 receptor gene DOID:2841 asthma ISO RGD:735615 D RGD:9068941 20200609 RGD PMID:11398072|PMID:16917945|REF_RGD_ID:4890352|REF_RGD_ID:4890406 11959785 IL4R interleukin 4 receptor gene DOID:2841 asthma ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c.-3223C>T (human) PMID:15479272|REF_RGD_ID:4890351 11959785 IL4R interleukin 4 receptor gene DOID:2841 asthma disease_progression ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:SNPs:cds:p.E375A, Q551R (human) PMID:17170387|REF_RGD_ID:4890349 11959785 IL4R interleukin 4 receptor gene DOID:2841 asthma severity ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.I50V (human) PMID:18425216|REF_RGD_ID:4890346 11959785 IL4R interleukin 4 receptor gene DOID:2841 asthma susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:17823973|REF_RGD_ID:4890347 11959785 IL4R interleukin 4 receptor gene DOID:2841 asthma susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:SNPs:cds:p. I75V, Q576R (human) PMID:12133990|REF_RGD_ID:4890404 11959785 IL4R interleukin 4 receptor gene DOID:2841 asthma susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:polymorphism::-1902G/A (human) PMID:20868478|REF_RGD_ID:4890387 11959785 IL4R interleukin 4 receptor gene DOID:2841 asthma susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p. S478P (human) PMID:11709756|REF_RGD_ID:4890024 11959785 IL4R interleukin 4 receptor gene DOID:2841 asthma susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.Q551R (human) PMID:17586032|REF_RGD_ID:4890348 11959785 IL4R interleukin 4 receptor gene DOID:2841 asthma susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.Q576R (human) PMID:12940513|REF_RGD_ID:4890402 11959785 IL4R interleukin 4 receptor gene DOID:2957 pulmonary tuberculosis ISO RGD:735615 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:21251883|REF_RGD_ID:5128510 11959785 IL4R interleukin 4 receptor gene DOID:3082 interstitial lung disease ISO RGD:735615 D RGD:9068941 20200609 RGD Idiopathic Interstitial Pneumonias PMID:15161635|REF_RGD_ID:4890021 11959785 IL4R interleukin 4 receptor gene DOID:3261 hyper IgE recurrent infection syndrome 1 no_association ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.Q576R(human) PMID:9537881|REF_RGD_ID:11530003 11959785 IL4R interleukin 4 receptor gene DOID:3310 atopic dermatitis susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.Q576R(human) PMID:9392697|REF_RGD_ID:11530001 11959785 IL4R interleukin 4 receptor gene DOID:350 mastocytosis ISO RGD:10798 D RGD:9068941 20200609 RGD PMID:23149659|REF_RGD_ID:7829822 11959785 IL4R interleukin 4 receptor gene DOID:3587 pancreatic ductal carcinoma ISO RGD:735615 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:17942922|REF_RGD_ID:2317264 11959785 IL4R interleukin 4 receptor gene DOID:4450 renal cell carcinoma ISO RGD:735615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22317767|PMID:30472377 11959785 IL4R interleukin 4 receptor gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.I50V (human) PMID:12171893|REF_RGD_ID:7207070 11959785 IL4R interleukin 4 receptor gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.I50V (human) PMID:22317767|REF_RGD_ID:7207066 11959785 IL4R interleukin 4 receptor gene DOID:4483 rhinitis ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.1432T>C (human) PMID:15564773|REF_RGD_ID:4890394 11959785 IL4R interleukin 4 receptor gene DOID:4947 cholangiocarcinoma ISO RGD:735615 D RGD:9068941 20200609 RGD mRNA:increased expression:bile duct PMID:18798553|REF_RGD_ID:2317263 11959785 IL4R interleukin 4 receptor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735615 D RGD:7240710 20230517 OMIM 11959785 IL4R interleukin 4 receptor gene DOID:552 pneumonia ISO RGD:735615 D RGD:9068941 20200618 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11959785 IL4R interleukin 4 receptor gene DOID:5844 myocardial infarction ISO RGD:2899 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:10807530|REF_RGD_ID:4889985 11959785 IL4R interleukin 4 receptor gene DOID:630 genetic disease ISO RGD:735615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11959785 IL4R interleukin 4 receptor gene DOID:635 acquired immunodeficiency syndrome ISO RGD:735615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, slow progression to PMID:15712015|PMID:16189667|PMID:2278997|PMID:2307934|PMID:9620765 11959785 IL4R interleukin 4 receptor gene DOID:6543 acne ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.Q551R (human) PMID:22705603|REF_RGD_ID:7829779 11959785 IL4R interleukin 4 receptor gene DOID:7148 rheumatoid arthritis severity ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:SNP: :rs1805010 (human) PMID:24782180|REF_RGD_ID:10402783 11959785 IL4R interleukin 4 receptor gene DOID:8398 osteoarthritis ISO RGD:735615 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16647277|REF_RGD_ID:10402785 11959785 IL4R interleukin 4 receptor gene DOID:850 lung disease ISO RGD:10798 D RGD:9068941 20200609 RGD associated with respiratory syncytial virus infection PMID:20861354|REF_RGD_ID:4889995 11959785 IL4R interleukin 4 receptor gene DOID:9000011 Gallbladder Neoplasms ISO RGD:735615 D RGD:9068941 20200609 RGD mRNA:increased expression:gallbladder PMID:18798553|REF_RGD_ID:2317263 11959785 IL4R interleukin 4 receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:2899 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:20623539|REF_RGD_ID:5128562 11959785 IL4R interleukin 4 receptor gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:735615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30472377 11959785 IL4R interleukin 4 receptor gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:10798 D RGD:9068941 20200609 RGD PMID:16890766|REF_RGD_ID:4890011 11959785 IL4R interleukin 4 receptor gene DOID:9001733 Tinnitus ISO RGD:735615 D RGD:9068941 20200609 RGD associated with Hearing Loss, Sudden;DNA:SNP: :p.Q576R (rs 180275) (human) PMID:16280132|REF_RGD_ID:7829784 11959785 IL4R interleukin 4 receptor gene DOID:9002669 Hypoxia ISO RGD:10798 D RGD:9068941 20200609 RGD PMID:19380795|REF_RGD_ID:4890390 11959785 IL4R interleukin 4 receptor gene DOID:9002850 Immediate Hypersensitivity ISO RGD:10798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 11959785 IL4R interleukin 4 receptor gene DOID:9003817 Sudden Hearing Loss ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:SNP: :p.Q576R (rs 180275) (human) PMID:16280132|REF_RGD_ID:7829784 11959785 IL4R interleukin 4 receptor gene DOID:9004501 Meningeal Tuberculosis ISO RGD:735615 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:21251883|REF_RGD_ID:5128510 11959785 IL4R interleukin 4 receptor gene DOID:9005040 Hand Osteoarthritis no_association ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exons:multiple PMID:20219689|REF_RGD_ID:10402786 11959785 IL4R interleukin 4 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10798 D RGD:9068941 20200609 RGD PMID:12165974|REF_RGD_ID:4889983 11959785 IL4R interleukin 4 receptor gene DOID:9006041 Osteoarthritis, Hip no_association ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.S411L, p.S727A (rs1805013, rs1805016) (human) PMID:19036616|REF_RGD_ID:10402784 11959785 IL4R interleukin 4 receptor gene DOID:9006041 Osteoarthritis, Hip susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:SNPs:multiple PMID:14745651|REF_RGD_ID:10402782 11959785 IL4R interleukin 4 receptor gene DOID:9006928 Viral Bronchiolitis ISO RGD:10798 D RGD:9068941 20200609 RGD PMID:20404812|REF_RGD_ID:4889996 11959785 IL4R interleukin 4 receptor gene DOID:9006928 Viral Bronchiolitis ISO RGD:735615 D RGD:9068941 20200609 RGD associated with respiratory syncystial virus infection; DNA:polymorphism:cds:p. Q551R (human) PMID:12508140|REF_RGD_ID:4890022 11959785 IL4R interleukin 4 receptor gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1805011,rs2057768 (human) PMID:17703412|REF_RGD_ID:4889847 11959785 IL4R interleukin 4 receptor gene DOID:9007096 Stroke disease_progression ISO RGD:735615 D RGD:9068941 20200609 RGD PMID:24386991|REF_RGD_ID:11530005 11959785 IL4R interleukin 4 receptor gene DOID:9007096 Stroke susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:polymorphism:cds:p.S503P(rs1805015)(human) PMID:14615367|REF_RGD_ID:11529997 11959785 IL4R interleukin 4 receptor gene DOID:9007356 Eczema ISO RGD:10798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19759553 11959785 IL4R interleukin 4 receptor gene DOID:9007356 Eczema susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:SNP: : rs2057768 (human) PMID:20002627|REF_RGD_ID:4890389 11959785 IL4R interleukin 4 receptor gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:2899 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:19395316|REF_RGD_ID:4889981 11959785 IL4R interleukin 4 receptor gene DOID:9008727 Ige Responsiveness, Atopic ISO RGD:735615 D RGD:7240710 20230517 OMIM 11959785 IL4R interleukin 4 receptor gene DOID:9008727 Ige Responsiveness, Atopic ISO RGD:735615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atopy, resistance to | ClinVar Annotator: match by term: Atopy, susceptibility to | ClinVar Annotator: match by term: IgE responsiveness, atopic PMID:10233717|PMID:10905893|PMID:11709756|PMID:15173254|PMID:15712015|PMID:16189667|PMID:2278997|PMID:2307934|PMID:25741868|PMID:28492532|PMID:9392697|PMID:9515586|PMID:9537881|PMID:9620765 11959785 IL4R interleukin 4 receptor gene DOID:9008821 Otitis Media with Effusion treatment ISO RGD:10798 D RGD:9068941 20200609 RGD PMID:12297806|REF_RGD_ID:11530017 11959785 IL4R interleukin 4 receptor gene DOID:9008821 Otitis Media with Effusion treatment ISO RGD:2899 D RGD:9068941 20200609 RGD PMID:12297806|REF_RGD_ID:11530017 11959785 IL4R interleukin 4 receptor gene DOID:9119 acute myeloid leukemia ISO RGD:735615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11918534 11959785 IL4R interleukin 4 receptor gene DOID:9538 multiple myeloma susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:SNP: :-228120T>C(rs2107356)(human) PMID:17315188|REF_RGD_ID:11040938 11959785 IL4R interleukin 4 receptor gene DOID:9733 renal tuberculosis ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.I50V (human) PMID:19548368|REF_RGD_ID:7207069 11959785 IL4R interleukin 4 receptor gene DOID:9733 renal tuberculosis ISO RGD:735615 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:21251883|REF_RGD_ID:5128510 11959803 APRG1 APRG1 tumor suppressor candidate gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1605538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 11959822 SCD5 stearoyl-CoA desaturase 5 gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1349660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 11959822 SCD5 stearoyl-CoA desaturase 5 gene DOID:0112160 autosomal dominant nonsyndromic deafness 79 ISO RGD:1349660 D RGD:7240710 20201111 OMIM 11959822 SCD5 stearoyl-CoA desaturase 5 gene DOID:0112160 autosomal dominant nonsyndromic deafness 79 ISO RGD:1349660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 79 PMID:31972369 11959822 SCD5 stearoyl-CoA desaturase 5 gene DOID:10316 pneumoconiosis ISO RGD:1349660 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 11959822 SCD5 stearoyl-CoA desaturase 5 gene DOID:630 genetic disease ISO RGD:1349660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11959822 SCD5 stearoyl-CoA desaturase 5 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1349660 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11959834 CCDC80 coiled-coil domain containing 80 gene DOID:0080600 COVID-19 ISO RGD:736330 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11959834 CCDC80 coiled-coil domain containing 80 gene DOID:3310 atopic dermatitis ISO RGD:736330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23042114 11959834 CCDC80 coiled-coil domain containing 80 gene DOID:630 genetic disease ISO RGD:736330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11959834 CCDC80 coiled-coil domain containing 80 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11959846 ELAC2 elaC ribonuclease Z 2 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1342597 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency | ClinVar Annotator: match by term: NADH coenzyme Q reductase deficiency PMID:25741868|PMID:27769300|PMID:28492532|PMID:31045291 11959846 ELAC2 elaC ribonuclease Z 2 gene DOID:0111496 combined oxidative phosphorylation deficiency 17 ISO RGD:1342597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 17 PMID:10986046|PMID:11175785|PMID:11507049|PMID:12515253|PMID:12522685|PMID:15863270|PMID:16199547|PMID:17576681|PMID:23849775|PMID:24033266|PMID:25326635|PMID:25741868|PMID:27769300|PMID:28441660|PMID:28454995|PMID:28492532|PMID:30094188|PMID:30217939|PMID:31045291|PMID:32685970|PMID:32870709|PMID:34056100|PMID:34732400|PMID:9536098 11959846 ELAC2 elaC ribonuclease Z 2 gene DOID:0111496 combined oxidative phosphorylation deficiency 17 susceptibility ISO RGD:1342597 D RGD:7240710 20230517 OMIM 11959846 ELAC2 elaC ribonuclease Z 2 gene DOID:10907 microcephaly ISO RGD:1342597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11959846 ELAC2 elaC ribonuclease Z 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1342597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:27769300|PMID:28492532|PMID:31045291 11959846 ELAC2 elaC ribonuclease Z 2 gene DOID:2394 ovarian cancer ISO RGD:1342597 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 11959846 ELAC2 elaC ribonuclease Z 2 gene DOID:630 genetic disease ISO RGD:1342597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11175785|PMID:15863270|PMID:25326635|PMID:25741868|PMID:27769300|PMID:28492532|PMID:31045291|PMID:32685970|PMID:34056100|PMID:34732400 11959846 ELAC2 elaC ribonuclease Z 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1342597 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16114055 11959846 ELAC2 elaC ribonuclease Z 2 gene DOID:9002356 Prostate Cancer, Hereditary, 2 ISO RGD:1342597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 2 PMID:10986046|PMID:11175785|PMID:11254448|PMID:11507049|PMID:12515253|PMID:12522685|PMID:15863270|PMID:24033266|PMID:25326635|PMID:25741868|PMID:28492532|PMID:31045291 11959846 ELAC2 elaC ribonuclease Z 2 gene DOID:9002356 Prostate Cancer, Hereditary, 2 susceptibility ISO RGD:1342597 D RGD:7240710 20230517 OMIM 11959881 CYP4A22 cytochrome P450 family 4 subfamily A member 22 gene DOID:0060041 autism spectrum disorder ISO RGD:1603864 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11959881 CYP4A22 cytochrome P450 family 4 subfamily A member 22 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:68945 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:19129252|REF_RGD_ID:2303380 11959881 CYP4A22 cytochrome P450 family 4 subfamily A member 22 gene DOID:10763 hypertension ISO RGD:68945 D RGD:9068941 20200609 RGD PMID:18952718|REF_RGD_ID:2303381 11959881 CYP4A22 cytochrome P450 family 4 subfamily A member 22 gene DOID:10763 hypertension ISO RGD:68945 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney cortex PMID:16339392|REF_RGD_ID:2303383 11959881 CYP4A22 cytochrome P450 family 4 subfamily A member 22 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1603864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 11959881 CYP4A22 cytochrome P450 family 4 subfamily A member 22 gene DOID:630 genetic disease ISO RGD:1603864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11959897 NEDD1 NEDD1 gamma-tubulin ring complex targeting factor gene DOID:630 genetic disease ISO RGD:1317123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11959937 CASP6 caspase 6 gene DOID:0060074 ductal carcinoma in situ ISO RGD:732006 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:10574243|REF_RGD_ID:2301339 11959937 CASP6 caspase 6 gene DOID:1002 endometritis treatment ISO RGD:70967 D RGD:9068941 20200609 RGD PMID:26920733|REF_RGD_ID:13782281 11959937 CASP6 caspase 6 gene DOID:10286 prostate carcinoma ISO RGD:70967 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:11406539|REF_RGD_ID:1582381 11959937 CASP6 caspase 6 gene DOID:10652 Alzheimer's disease ISO RGD:732006 D RGD:9068941 20200609 RGD PMID:12633148|REF_RGD_ID:13782269 11959937 CASP6 caspase 6 gene DOID:11132 prostatic hypertrophy ISO RGD:732006 D RGD:9068941 20200609 RGD PMID:15507514|REF_RGD_ID:2301337 11959937 CASP6 caspase 6 gene DOID:1824 status epilepticus ISO RGD:70967 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:hippocampus PMID:15749343|REF_RGD_ID:2301314 11959937 CASP6 caspase 6 gene DOID:2316 brain ischemia ISO RGD:70967 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:11311984|REF_RGD_ID:2301331 11959937 CASP6 caspase 6 gene DOID:3525 middle cerebral artery infarction ISO RGD:70967 D RGD:9068941 20200609 RGD PMID:26868427|REF_RGD_ID:13782346 11959937 CASP6 caspase 6 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732006 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:16231180|REF_RGD_ID:13434909 11959937 CASP6 caspase 6 gene DOID:4001 ovarian carcinoma ISO RGD:732006 D RGD:9068941 20200609 RGD PMID:17283169|REF_RGD_ID:2301336 11959937 CASP6 caspase 6 gene DOID:630 genetic disease ISO RGD:732006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11959937 CASP6 caspase 6 gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:732006 D RGD:9068941 20220414 RGD human cells in mouse model PMID:31952546|REF_RGD_ID:151667904 11959937 CASP6 caspase 6 gene DOID:9004009 Reperfusion Injury ISO RGD:70967 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:small intestine mucosa PMID:15010362|REF_RGD_ID:2301320 11959937 CASP6 caspase 6 gene DOID:9004332 Osteoarthritis, Experimental treatment ISO RGD:70967 D RGD:9068941 20200609 RGD PMID:29621761|REF_RGD_ID:13782275 11959937 CASP6 caspase 6 gene DOID:9004484 Sepsis ISO RGD:70967 D RGD:9068941 20200609 RGD protein:increased activity:thymus, T cell PMID:11086028|REF_RGD_ID:2301332 11959937 CASP6 caspase 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70967 D RGD:9068941 20200609 RGD protein:increased activity:heart left ventricle PMID:15662549|REF_RGD_ID:2301316 11959937 CASP6 caspase 6 gene DOID:9008939 Breast Neoplasms ISO RGD:732006 D RGD:9068941 20200609 RGD PMID:15210759|REF_RGD_ID:2301338 11959937 CASP6 caspase 6 gene DOID:9008939 Breast Neoplasms ISO RGD:732006 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:10574243|REF_RGD_ID:2301339 11959954 CNPY2 canopy FGF signaling regulator 2 gene DOID:630 genetic disease ISO RGD:1350709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11959954 CNPY2 canopy FGF signaling regulator 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1350709 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11959954 CNPY2 canopy FGF signaling regulator 2 gene DOID:9000918 Disease Progression ISO RGD:1350709 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11959954 CNPY2 canopy FGF signaling regulator 2 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1350709 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868 11959964 CLUL1 clusterin like 1 gene DOID:12849 autistic disorder ISO RGD:1315705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11959964 CLUL1 clusterin like 1 gene DOID:630 genetic disease ISO RGD:1315705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11959964 CLUL1 clusterin like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11959964 CLUL1 clusterin like 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1315705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 11959988 TIMM44 translocase of inner mitochondrial membrane 44 gene DOID:0080490 mucolipidosis type IV ISO RGD:734087 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11959988 TIMM44 translocase of inner mitochondrial membrane 44 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:734087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 11959988 TIMM44 translocase of inner mitochondrial membrane 44 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:734087 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina PMID:22003103|REF_RGD_ID:13463597 11959988 TIMM44 translocase of inner mitochondrial membrane 44 gene DOID:630 genetic disease ISO RGD:734087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11959988 TIMM44 translocase of inner mitochondrial membrane 44 gene DOID:8947 diabetic retinopathy ISO RGD:3864 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:retina PMID:22003103|REF_RGD_ID:13463597 11959988 TIMM44 translocase of inner mitochondrial membrane 44 gene DOID:9002514 Neointima treatment ISO RGD:737090 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16186389|REF_RGD_ID:13463598 11959988 TIMM44 translocase of inner mitochondrial membrane 44 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3864 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:23255365|REF_RGD_ID:13463486 11960005 FRY FRY microtubule binding protein gene DOID:1059 intellectual disability ISO RGD:1349911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11960005 FRY FRY microtubule binding protein gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1349911 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome 11960005 FRY FRY microtubule binding protein gene DOID:630 genetic disease ISO RGD:1349911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11960005 FRY FRY microtubule binding protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11960077 THRSP thyroid hormone responsive gene DOID:1059 intellectual disability ISO RGD:734265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11960077 THRSP thyroid hormone responsive gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:11417 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 11960077 THRSP thyroid hormone responsive gene DOID:305 carcinoma ISO RGD:734265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11960077 THRSP thyroid hormone responsive gene DOID:630 genetic disease ISO RGD:734265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11960077 THRSP thyroid hormone responsive gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:734265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11960077 THRSP thyroid hormone responsive gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11960083 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603206 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11960083 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:0110198 Charcot-Marie-Tooth disease recessive intermediate C ISO RGD:1603206 D RGD:7240710 20180130 OMIM 11960083 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:0110198 Charcot-Marie-Tooth disease recessive intermediate C ISO RGD:1603206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate C PMID:16199547|PMID:17564964|PMID:23777631|PMID:23844677|PMID:25741868|PMID:26392352|PMID:28492532 11960083 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:1603206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:16728649|PMID:17564964 11960083 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:0111213 distal spinal muscular atrophy type 4 ISO RGD:1603206 D RGD:7240710 20180130 OMIM 11960083 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:0111213 distal spinal muscular atrophy type 4 ISO RGD:1603206 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal recessive lower motor neuron disease with childhood onset | ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 4 PMID:16199547|PMID:16728649|PMID:17564964|PMID:17576681|PMID:23777631|PMID:23844677|PMID:24497998|PMID:25741868|PMID:26392352|PMID:26752306|PMID:28160950|PMID:28492532|PMID:33220101|PMID:9536098 11960083 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:11612 polycystic ovary syndrome ISO RGD:1603206 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11960083 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:12377 spinal muscular atrophy ISO RGD:1603206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:17576681|PMID:28492532|PMID:9536098 11960083 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1603206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11960083 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:574 peripheral nervous system disease ISO RGD:1603206 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868 11960083 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:630 genetic disease ISO RGD:1603206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17564964|PMID:17576681|PMID:23777631|PMID:24497998|PMID:25741868|PMID:26392352|PMID:26752306|PMID:28160950|PMID:28492532|PMID:9536098 11960083 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:870 neuropathy ISO RGD:1603206 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868 11960083 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:9000276 Juvenile Amyotrophic Lateral Sclerosis ISO RGD:1603206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis PMID:25741868 11960083 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11960083 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:9004930 Spinal Muscular Atrophy, Facioscapulohumeral Type ISO RGD:1603206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, facioscapulohumeral type 11960130 CTXN1 cortexin 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1353903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11960130 CTXN1 cortexin 1 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1353903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 11960130 CTXN1 cortexin 1 gene DOID:630 genetic disease ISO RGD:1353903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11960138 CLDN2 claudin 2 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1352349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 11960138 CLDN2 claudin 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11960138 CLDN2 claudin 2 gene DOID:12336 male infertility ISO RGD:1352349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility PMID:31320686 11960138 CLDN2 claudin 2 gene DOID:12849 autistic disorder ISO RGD:1352349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11960138 CLDN2 claudin 2 gene DOID:4989 pancreatitis ISO RGD:1352349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143602 11960138 CLDN2 claudin 2 gene DOID:630 genetic disease ISO RGD:1352349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11960138 CLDN2 claudin 2 gene DOID:9004144 AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS ISO RGD:1352349 D RGD:7240710 20210414 OMIM 11960138 CLDN2 claudin 2 gene DOID:9004144 AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS ISO RGD:1352349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia, obstructive, with nephrolithiasis PMID:31320686 11960143 RPUSD4 RNA pseudouridine synthase D4 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1345355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11960143 RPUSD4 RNA pseudouridine synthase D4 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1345355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11960143 RPUSD4 RNA pseudouridine synthase D4 gene DOID:5419 schizophrenia ISO RGD:1345355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11960143 RPUSD4 RNA pseudouridine synthase D4 gene DOID:630 genetic disease ISO RGD:1345355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11960143 RPUSD4 RNA pseudouridine synthase D4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11960143 RPUSD4 RNA pseudouridine synthase D4 gene DOID:9007661 Dwarfism ISO RGD:1345355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11960155 EXTL1 exostosin like glycosyltransferase 1 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1319981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 11960155 EXTL1 exostosin like glycosyltransferase 1 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1319981 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 11960155 EXTL1 exostosin like glycosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1319981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11960155 EXTL1 exostosin like glycosyltransferase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11960172 RUVBL1 RuvB like AAA ATPase 1 gene DOID:0050770 polycystic liver disease ISO RGD:68537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 11960172 RUVBL1 RuvB like AAA ATPase 1 gene DOID:0111947 immunodeficiency 21 ISO RGD:68537 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:21670465|PMID:22147895|PMID:23223431|PMID:28492532 11960172 RUVBL1 RuvB like AAA ATPase 1 gene DOID:630 genetic disease ISO RGD:68537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11960172 RUVBL1 RuvB like AAA ATPase 1 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:68537 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 11960172 RUVBL1 RuvB like AAA ATPase 1 gene DOID:9004877 Autosomal Dominant Tubulointerstitial Kidney Disease 5 ISO RGD:68537 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 PMID:25741868|PMID:28492532 11960172 RUVBL1 RuvB like AAA ATPase 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:68537 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:21670465|PMID:22147895|PMID:23223431|PMID:25741868|PMID:26710799|PMID:28492532 11960172 RUVBL1 RuvB like AAA ATPase 1 gene DOID:9270 alkaptonuria ISO RGD:68537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11960188 ZNF574 zinc finger protein 574 gene DOID:0050888 syndromic intellectual disability ISO RGD:1322875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 11960188 ZNF574 zinc finger protein 574 gene DOID:0080600 COVID-19 ISO RGD:1322875 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11960188 ZNF574 zinc finger protein 574 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1322875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11960188 ZNF574 zinc finger protein 574 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1322875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11960188 ZNF574 zinc finger protein 574 gene DOID:2340 craniosynostosis ISO RGD:1322875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:28492532 11960188 ZNF574 zinc finger protein 574 gene DOID:5419 schizophrenia ISO RGD:1322875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11960188 ZNF574 zinc finger protein 574 gene DOID:630 genetic disease ISO RGD:1322875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11960188 ZNF574 zinc finger protein 574 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1322875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11960188 ZNF574 zinc finger protein 574 gene DOID:9269 maple syrup urine disease ISO RGD:1322875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11960200 STUM stum, mechanosensory transduction mediator homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1605215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11960200 STUM stum, mechanosensory transduction mediator homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11960206 RASGRP4 RAS guanyl releasing protein 4 gene DOID:630 genetic disease ISO RGD:733193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11960234 PSMD14 proteasome 26S subunit, non-ATPase 14 gene DOID:12849 autistic disorder ISO RGD:1315018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213|PMID:25741868 11960234 PSMD14 proteasome 26S subunit, non-ATPase 14 gene DOID:630 genetic disease ISO RGD:1315018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11960234 PSMD14 proteasome 26S subunit, non-ATPase 14 gene DOID:769 neuroblastoma ISO RGD:1315018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30871063 11960234 PSMD14 proteasome 26S subunit, non-ATPase 14 gene DOID:9000918 Disease Progression ISO RGD:1315018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30871063 11960234 PSMD14 proteasome 26S subunit, non-ATPase 14 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:1594532 D RGD:9068941 20200609 RGD protein:decreased expression:liver, cytosolic proteasome complex (rat) PMID:19609968|REF_RGD_ID:9480236 11960253 GCNA germ cell nuclear acidic peptidase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11960253 GCNA germ cell nuclear acidic peptidase gene DOID:0070168 spermatogenic failure 3 ISO RGD:1346265 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:34413498 11960253 GCNA germ cell nuclear acidic peptidase gene DOID:12849 autistic disorder ISO RGD:1346265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11960253 GCNA germ cell nuclear acidic peptidase gene DOID:14227 azoospermia ISO RGD:1346265 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Azoospermia PMID:35172124 11960253 GCNA germ cell nuclear acidic peptidase gene DOID:630 genetic disease ISO RGD:1346265 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11960253 GCNA germ cell nuclear acidic peptidase gene DOID:9001624 X-Linked Spermatogenic Failure 4 ISO RGD:1346265 D RGD:7240710 20220427 OMIM 11960253 GCNA germ cell nuclear acidic peptidase gene DOID:9001624 X-Linked Spermatogenic Failure 4 ISO RGD:1346265 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 4 PMID:34413498|PMID:35172124 11960266 NCOR1 nuclear receptor corepressor 1 gene DOID:0060351 mitochondrial complex III deficiency nuclear type 2 ISO RGD:730890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 2 11960266 NCOR1 nuclear receptor corepressor 1 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:730890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 11960266 NCOR1 nuclear receptor corepressor 1 gene DOID:11054 urinary bladder cancer ISO RGD:730890 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 11960266 NCOR1 nuclear receptor corepressor 1 gene DOID:12849 autistic disorder ISO RGD:730890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 11960266 NCOR1 nuclear receptor corepressor 1 gene DOID:12858 Huntington's disease ISO RGD:730890 D RGD:9068941 20200611 RGD protein:decreased expression:temporal cortex, neuron, nucleus (human) PMID:10441327|REF_RGD_ID:5688338 11960266 NCOR1 nuclear receptor corepressor 1 gene DOID:1459 hypothyroidism ISO RGD:3612 D RGD:9068941 20200611 RGD mRNA:altered expression:brain PMID:11850121|REF_RGD_ID:2306463 11960266 NCOR1 nuclear receptor corepressor 1 gene DOID:2030 anxiety disorder ISO RGD:3612 D RGD:9068941 20200611 RGD PMID:20051490|REF_RGD_ID:5688287 11960266 NCOR1 nuclear receptor corepressor 1 gene DOID:2671 transitional cell carcinoma ISO RGD:730890 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 11960266 NCOR1 nuclear receptor corepressor 1 gene DOID:289 endometriosis ISO RGD:730890 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 11960266 NCOR1 nuclear receptor corepressor 1 gene DOID:3068 glioblastoma ISO RGD:730890 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:17312396 11960266 NCOR1 nuclear receptor corepressor 1 gene DOID:630 genetic disease ISO RGD:730890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11960266 NCOR1 nuclear receptor corepressor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730890 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11960266 NCOR1 nuclear receptor corepressor 1 gene DOID:9002532 Neonatal Hyperbilirubinemia ISO RGD:730890 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:28167773 11960266 NCOR1 nuclear receptor corepressor 1 gene DOID:9004713 Acute-Phase Reaction ISO RGD:3612 D RGD:9068941 20200611 RGD mRNA:decreased expression:liver PMID:20949361|REF_RGD_ID:10412679 11960266 NCOR1 nuclear receptor corepressor 1 gene DOID:9007188 Liver Neoplasms ISO RGD:730890 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:27064257 11960266 NCOR1 nuclear receptor corepressor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:730890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay 11960266 NCOR1 nuclear receptor corepressor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:730890 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:19781322 11960266 NCOR1 nuclear receptor corepressor 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:730890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 11960266 Ncor1 nuclear receptor co-repressor 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:3612 D RGD:9068941 20200611 RGD mRNA:increased expression:ovary (rat) PMID:22349439|REF_RGD_ID:5688285 11960280 C10H10orf67 chromosome 10 C10orf67 homolog gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1350054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 11960280 C10H10orf67 chromosome 10 C10orf67 homolog gene DOID:630 genetic disease ISO RGD:1350054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11960280 C10H10orf67 chromosome 10 C10orf67 homolog gene DOID:9007770 Pancreatic Agenesis 2 ISO RGD:1350054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pancreatic agenesis 2 PMID:25741868 11960280 C10H10orf67 chromosome 10 C10orf67 homolog gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 11960292 DGKD diacylglycerol kinase delta gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:1323100 D RGD:9068941 20220825 MouseDO OMIM:606369 11960292 DGKD diacylglycerol kinase delta gene DOID:0060476 Perlman syndrome ISO RGD:1323099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11960292 DGKD diacylglycerol kinase delta gene DOID:0110991 Joubert syndrome 22 ISO RGD:1323099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11960292 DGKD diacylglycerol kinase delta gene DOID:630 genetic disease ISO RGD:1323099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11960292 DGKD diacylglycerol kinase delta gene DOID:9352 type 2 diabetes mellitus ISO RGD:1323099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 11960340 CLDN8 claudin 8 gene DOID:1790 malignant mesothelioma ISO RGD:1318427 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:28377727 11960340 CLDN8 claudin 8 gene DOID:630 genetic disease ISO RGD:1318427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11960345 CIMIP4 ciliary microtubule inner protein 4 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1606105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11960345 CIMIP4 ciliary microtubule inner protein 4 gene DOID:0070194 autosomal recessive chronic granulomatous disease 3 ISO RGD:1606105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III PMID:28492532 11960345 CIMIP4 ciliary microtubule inner protein 4 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1606105 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11960345 CIMIP4 ciliary microtubule inner protein 4 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1606105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11960345 CIMIP4 ciliary microtubule inner protein 4 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1606105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11960345 CIMIP4 ciliary microtubule inner protein 4 gene DOID:630 genetic disease ISO RGD:1606105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11960355 GNB5 G protein subunit beta 5 gene DOID:0081008 intellectual developmental disorder with cardiac arrhythmia ISO RGD:731985 D RGD:7240710 20190315 OMIM 11960355 GNB5 G protein subunit beta 5 gene DOID:0081008 intellectual developmental disorder with cardiac arrhythmia ISO RGD:731985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gnb5-related intellectual disability-cardiac arrhythmia syndrome PMID:21766168|PMID:25741868|PMID:25741873|PMID:27523599|PMID:27677260|PMID:28492532|PMID:29368331|PMID:30631341|PMID:31130284|PMID:31631344|PMID:32203251|PMID:32280589|PMID:32987464|PMID:33172956|PMID:33176815 11960355 GNB5 G protein subunit beta 5 gene DOID:0111406 Fraser syndrome 3 ISO RGD:731985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 11960355 GNB5 G protein subunit beta 5 gene DOID:2717 Bloom syndrome ISO RGD:731985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11960355 GNB5 G protein subunit beta 5 gene DOID:607 paraplegia ISO RGD:731985 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 11960355 GNB5 G protein subunit beta 5 gene DOID:630 genetic disease ISO RGD:731985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21766168|PMID:25741868|PMID:27523599|PMID:27677260|PMID:28492532|PMID:30631341|PMID:31130284|PMID:31631344|PMID:33172956|PMID:33176815 11960355 GNB5 G protein subunit beta 5 gene DOID:9000267 LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA ISO RGD:731985 D RGD:7240710 20190315 OMIM 11960355 GNB5 G protein subunit beta 5 gene DOID:9000267 LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA ISO RGD:731985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia PMID:25741868|PMID:27523599|PMID:27677260|PMID:30631341|PMID:31130284|PMID:33176815 11960355 GNB5 G protein subunit beta 5 gene DOID:9008086 Developmental Disabilities ISO RGD:731985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741873|PMID:27523599|PMID:27677260|PMID:30631341|PMID:31130284|PMID:33172956|PMID:33176815 11960355 GNB5 G protein subunit beta 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:731985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 11960355 GNB5 G protein subunit beta 5 gene DOID:9256 colorectal cancer ISO RGD:731985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11960370 CFAP69 cilia and flagella associated protein 69 gene DOID:0111929 spermatogenic failure 24 ISO RGD:1605631 D RGD:7240710 20190315 OMIM 11960370 CFAP69 cilia and flagella associated protein 69 gene DOID:0111929 spermatogenic failure 24 ISO RGD:1605631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 24 PMID:25741868|PMID:29606301|PMID:30415212 11960370 CFAP69 cilia and flagella associated protein 69 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11960370 CFAP69 cilia and flagella associated protein 69 gene DOID:630 genetic disease ISO RGD:1605631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11960415 CIMIP2A ciliary microtubule inner protein 2A gene DOID:0050777 Joubert syndrome ISO RGD:1603805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11960415 CIMIP2A ciliary microtubule inner protein 2A gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1603805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 11960415 CIMIP2A ciliary microtubule inner protein 2A gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1603805 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 11960415 CIMIP2A ciliary microtubule inner protein 2A gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1603805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11960415 CIMIP2A ciliary microtubule inner protein 2A gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1603805 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11960415 CIMIP2A ciliary microtubule inner protein 2A gene DOID:0081097 Rafiq syndrome ISO RGD:1603805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11960415 CIMIP2A ciliary microtubule inner protein 2A gene DOID:1826 epilepsy ISO RGD:1603805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11960415 CIMIP2A ciliary microtubule inner protein 2A gene DOID:630 genetic disease ISO RGD:1603805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11960415 CIMIP2A ciliary microtubule inner protein 2A gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1603805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11960436 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:0050451 Brugada syndrome ISO RGD:1349086 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:11527630|PMID:11901046|PMID:12417552|PMID:1309182|PMID:15381640|PMID:15655131|PMID:16199547|PMID:16943940|PMID:17576681|PMID:18355654|PMID:20129283|PMID:21646736|PMID:22789973|PMID:23115331|PMID:23986244|PMID:24820863|PMID:24998131|PMID:25053638|PMID:25085921|PMID:25301907|PMID:25437880|PMID:25691538|PMID:25691686|PMID:25741868|PMID:25842276|PMID:26220970|PMID:26423924|PMID:26711856|PMID:26733327|PMID:27272739|PMID:28074886|PMID:28078312|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29247119|PMID:29911575|PMID:29992996|PMID:30099632|PMID:30135145|PMID:31106349|PMID:31195250|PMID:31292628|PMID:31780880|PMID:32581362|PMID:32948286|PMID:33352116|PMID:9536098 11960436 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:0050451 Brugada syndrome ISO RGD:1349086 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:11527630|PMID:11901046|PMID:12097481|PMID:12417552|PMID:1309182|PMID:15381640|PMID:15655131|PMID:16199547|PMID:16943940|PMID:17576681|PMID:18355654|PMID:20129283|PMID:21646736|PMID:22789973|PMID:23115331|PMID:23986244|PMID:24820863|PMID:24998131|PMID:25053638|PMID:25085921|PMID:25301907|PMID:25437880|PMID:25650408|PMID:25691538|PMID:25691686|PMID:25741868|PMID:25842276|PMID:26220970|PMID:26423924|PMID:26711856|PMID:26733327|PMID:27272739|PMID:27711072|PMID:27727376|PMID:27884173|PMID:28074849|PMID:28074886|PMID:28078312|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29016797|PMID:29181379|PMID:29247119|PMID:29264398|PMID:29273096|PMID:29502107|PMID:29874177|PMID:29884292|PMID:29911575|PMID:29992996|PMID:30099632|PMID:30135145|PMID:30177317|PMID:30403391|PMID:30554136|PMID:30662450|PMID:30664616|PMID:30821013|PMID:30847666|PMID:31106349|PMID:31195250|PMID:31292628|PMID:31571979|PMID:31780880|PMID:32581362|PMID:32948286|PMID:33352116|PMID:9536098 11960436 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:0050451 Brugada syndrome ISO RGD:1349086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome, lidocaine-induced | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:11527630|PMID:11901046|PMID:12097481|PMID:12417552|PMID:1309182|PMID:15381640|PMID:15655131|PMID:16199547|PMID:16943940|PMID:17576681|PMID:18355654|PMID:19763152|PMID:20129283|PMID:20307669|PMID:21270786|PMID:21646736|PMID:22406018|PMID:22789973|PMID:23115331|PMID:23986244|PMID:24820863|PMID:24998131|PMID:25053638|PMID:25085921|PMID:25250524|PMID:25301907|PMID:25437880|PMID:25650408|PMID:25691538|PMID:25691686|PMID:25741868|PMID:25842276|PMID:25974703|PMID:25998140|PMID:26220970|PMID:26423924|PMID:26711856|PMID:26733327|PMID:27272739|PMID:27711072|PMID:27727376|PMID:27884173|PMID:28074849|PMID:28074886|PMID:28078312|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29016797|PMID:29181379|PMID:29247119|PMID:29264398|PMID:29273096|PMID:29502107|PMID:29874177|PMID:29884292|PMID:29911575|PMID:29992996|PMID:30086531|PMID:30099632|PMID:30135145|PMID:30177317|PMID:30403391|PMID:30554136|PMID:30662450|PMID:30664616|PMID:30821013|PMID:30847666|PMID:30975432|PMID:31106349|PMID:31195250|PMID:31292628|PMID:31571979|PMID:31780880|PMID:31928344|PMID:31977013|PMID:32581362|PMID:32917565|PMID:32948286|PMID:33352116|PMID:34385907|PMID:9536098 11960436 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:0050451 Brugada syndrome ISO RGD:1349086 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:11527630|PMID:11901046|PMID:12097481|PMID:12417552|PMID:1309182|PMID:15381640|PMID:15655131|PMID:16199547|PMID:16943940|PMID:17576681|PMID:18355654|PMID:19763152|PMID:20129283|PMID:20307669|PMID:21646736|PMID:22406018|PMID:22789973|PMID:23115331|PMID:23986244|PMID:24820863|PMID:24998131|PMID:25053638|PMID:25085921|PMID:25250524|PMID:25301907|PMID:25437880|PMID:25650408|PMID:25691538|PMID:25691686|PMID:25741868|PMID:25842276|PMID:25998140|PMID:26220970|PMID:26423924|PMID:26711856|PMID:26733327|PMID:27272739|PMID:27711072|PMID:27727376|PMID:27884173|PMID:28074849|PMID:28074886|PMID:28078312|PMID:28106320|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29016797|PMID:29181379|PMID:29247119|PMID:29264398|PMID:29273096|PMID:29502107|PMID:29874177|PMID:29884292|PMID:29911575|PMID:29992996|PMID:30086531|PMID:30099632|PMID:30135145|PMID:30177317|PMID:30403391|PMID:30554136|PMID:30662450|PMID:30664616|PMID:30821013|PMID:30847666|PMID:30975432|PMID:31106349|PMID:31195250|PMID:31292628|PMID:31571979|PMID:31780880|PMID:31928344|PMID:31977013|PMID:32581362|PMID:32917565|PMID:32948286|PMID:33352116|PMID:34385907|PMID:9536098 11960436 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:0060224 atrial fibrillation ISO RGD:1349086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062060|PMID:29892015|PMID:30061737 11960436 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:0070149 hereditary sensory and autonomic neuropathy type 7 ISO RGD:1349086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 7 PMID:28492532 11960436 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:0081075 Marsili syndrome ISO RGD:1349086 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Impaired thermal sensitivity PMID:25741868|PMID:28492532|PMID:32581362 11960436 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:0110218 Brugada syndrome 1 ISO RGD:1349086 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:24998131|PMID:25053638|PMID:25085921|PMID:25650408|PMID:25691538|PMID:25691686|PMID:25741868|PMID:26733327|PMID:27711072|PMID:27884173|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29874177|PMID:30662450|PMID:32581362 11960436 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:0111730 familial episodic pain syndrome 2 ISO RGD:1349086 D RGD:7240710 20180130 OMIM 11960436 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:0111730 familial episodic pain syndrome 2 ISO RGD:1349086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic pain syndrome, familial, 2 PMID:17576681|PMID:23115331|PMID:24820863|PMID:24998131|PMID:25053638|PMID:25085921|PMID:25691538|PMID:25691686|PMID:25741868|PMID:25842276|PMID:26220970|PMID:26423924|PMID:26733327|PMID:27711072|PMID:28074886|PMID:28078312|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29247119|PMID:29874177|PMID:29911575|PMID:30135145|PMID:30403391|PMID:30554136|PMID:30662450|PMID:30821013|PMID:31195250|PMID:31780880|PMID:31928344|PMID:32581362|PMID:32917565|PMID:32948286|PMID:9536098 11960436 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:11446 sciatic neuropathy ISO RGD:3629 D RGD:9068941 20200609 RGD PMID:21965668|REF_RGD_ID:6484251 11960436 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:630 genetic disease ISO RGD:1349086 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11527630|PMID:11901046|PMID:12417552|PMID:1309182|PMID:15381640|PMID:15655131|PMID:16943940|PMID:18355654|PMID:21646736|PMID:23115331|PMID:24998131|PMID:25053638|PMID:25301907|PMID:25437880|PMID:25741868|PMID:28078312|PMID:28106320|PMID:28492532 11960436 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1349086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062061 11960436 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:9002211 Hyperalgesia ISO RGD:1349086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16545521 11960436 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:9002211 Hyperalgesia ISO RGD:3629 D RGD:9068941 20200609 RGD PMID:19070548|REF_RGD_ID:6484253 11960436 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1349086 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:11527630|PMID:11901046|PMID:12097481|PMID:12417552|PMID:1309182|PMID:15381640|PMID:15655131|PMID:16199547|PMID:16943940|PMID:17576681|PMID:18355654|PMID:21646736|PMID:23115331|PMID:24820863|PMID:24998131|PMID:25053638|PMID:25085921|PMID:25250524|PMID:25301907|PMID:25437880|PMID:25650408|PMID:25691538|PMID:25691686|PMID:25741868|PMID:25842276|PMID:25998140|PMID:26220970|PMID:26423924|PMID:26711856|PMID:26733327|PMID:27272739|PMID:27711072|PMID:27727376|PMID:27884173|PMID:28074849|PMID:28074886|PMID:28078312|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29016797|PMID:29181379|PMID:29247119|PMID:29264398|PMID:29273096|PMID:29502107|PMID:29874177|PMID:29884292|PMID:29911575|PMID:29992996|PMID:30086531|PMID:30099632|PMID:30135145|PMID:30177317|PMID:30403391|PMID:30554136|PMID:30662450|PMID:30664616|PMID:30821013|PMID:30847666|PMID:30975432|PMID:31106349|PMID:31195250|PMID:31292628|PMID:31571979|PMID:31780880|PMID:31977013|PMID:32581362|PMID:32917565|PMID:32948286|PMID:34385907|PMID:9536098 11960436 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:9003163 Heart Block ISO RGD:1349086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062061 11960436 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:9005968 Neuralgia ISO RGD:1349086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18400411 11960436 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1349086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 11960436 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:9240 erythromelalgia ISO RGD:1349086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sodium channelopathy-related small fiber neuropathy PMID:25741868|PMID:28492532 11960468 ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 gene DOID:10283 prostate cancer ISO RGD:1321838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11960468 ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 gene DOID:5419 schizophrenia ISO RGD:1321838 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 11960468 ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 gene DOID:630 genetic disease ISO RGD:1321838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:30450763 11960468 ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1321838 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11960468 ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 gene DOID:9004748 Hennekam Lymphangiectasia-Lymphedema Syndrome 3 ISO RGD:1321838 D RGD:7240710 20190315 OMIM 11960468 ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 gene DOID:9004748 Hennekam Lymphangiectasia-Lymphedema Syndrome 3 ISO RGD:1321838 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 3 PMID:25741868|PMID:28492532|PMID:28985353|PMID:30450763 11960494 NDRG4 NDRG family member 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1353588 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11960494 NDRG4 NDRG family member 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1353588 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11960494 NDRG4 NDRG family member 4 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11960494 NDRG4 NDRG family member 4 gene DOID:224 transient cerebral ischemia ISO RGD:1332043 D RGD:9068941 20200609 RGD PMID:21636852|REF_RGD_ID:7247728 11960494 NDRG4 NDRG family member 4 gene DOID:3068 glioblastoma ISO RGD:1353588 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brain PMID:22489821|REF_RGD_ID:7247726 11960494 NDRG4 NDRG family member 4 gene DOID:3070 high grade glioma disease_progression ISO RGD:1353588 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:22399192|REF_RGD_ID:7247727 11960494 NDRG4 NDRG family member 4 gene DOID:630 genetic disease ISO RGD:1353588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11960494 NDRG4 NDRG family member 4 gene DOID:687 hepatoblastoma ISO RGD:1353588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 11960538 SLC31A1 solute carrier family 31 member 1 gene DOID:1059 intellectual disability ISO RGD:735683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11960538 SLC31A1 solute carrier family 31 member 1 gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:735684 D RGD:9068941 20200609 RGD protein:increased expression:spinal chord PMID:19656261|REF_RGD_ID:13524567 11960538 SLC31A1 solute carrier family 31 member 1 gene DOID:630 genetic disease ISO RGD:735683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11960538 SLC31A1 solute carrier family 31 member 1 gene DOID:6432 pulmonary hypertension ISO RGD:735683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24614111 11960538 SLC31A1 solute carrier family 31 member 1 gene DOID:9000304 Manganese Poisoning ISO RGD:735683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22465424 11960538 SLC31A1 solute carrier family 31 member 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:735683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23792645 11960538 SLC31A1 solute carrier family 31 member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25320179 11960538 SLC31A1 solute carrier family 31 member 1 gene DOID:9004994 Embryo Loss ISO RGD:735683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11391004 11960538 SLC31A1 solute carrier family 31 member 1 gene DOID:9005749 Necrosis ISO RGD:735683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19144690 11960538 SLC31A1 solute carrier family 31 member 1 gene DOID:9005835 Congenital Abnormalities ISO RGD:735683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11391004 11960547 TNS3 tensin 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11960547 TNS3 tensin 3 gene DOID:630 genetic disease ISO RGD:1323398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11960636 BMP2 bone morphogenetic protein 2 gene DOID:0050591 tooth agenesis ISO RGD:733110 D RGD:9068941 20200609 RGD DNA:SNPs:cds:c.261A>G(p.S87S),c.570A>T (p.R190S)(human) PMID:23079991|REF_RGD_ID:13446405 11960636 BMP2 bone morphogenetic protein 2 gene DOID:0050830 peripheral artery disease ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27082954 11960636 BMP2 bone morphogenetic protein 2 gene DOID:0060770 dextro-looped transposition of the great arteries ISO RGD:733110 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Transposition of the great arteries, dextro-looped 11960636 BMP2 bone morphogenetic protein 2 gene DOID:0080001 bone disease ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22023753 11960636 BMP2 bone morphogenetic protein 2 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:733110 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11960636 BMP2 bone morphogenetic protein 2 gene DOID:0110106 atrial heart septal defect 1 ISO RGD:733110 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Atrial septal defect 1 11960636 BMP2 bone morphogenetic protein 2 gene DOID:0110965 brachydactyly type A2 ISO RGD:733110 D RGD:7240710 20180130 OMIM 11960636 BMP2 bone morphogenetic protein 2 gene DOID:0110965 brachydactyly type A2 ISO RGD:733110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly type A2 PMID:19327734|PMID:21357617|PMID:25741868|PMID:28492532 11960636 BMP2 bone morphogenetic protein 2 gene DOID:0111029 hemochromatosis type 1 ISO RGD:733110 D RGD:7240710 20180130 OMIM 11960636 BMP2 bone morphogenetic protein 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:733110 D RGD:9068941 20200609 RGD PMID:15042598|REF_RGD_ID:2299981 11960636 BMP2 bone morphogenetic protein 2 gene DOID:10283 prostate cancer susceptibility ISO RGD:733110 D RGD:9068941 20200609 RGD DNA:amplification:prostate gland PMID:17656261|REF_RGD_ID:2289030 11960636 BMP2 bone morphogenetic protein 2 gene DOID:10286 prostate carcinoma disease_progression ISO RGD:733110 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:16519147|REF_RGD_ID:1643592 11960636 BMP2 bone morphogenetic protein 2 gene DOID:11476 osteoporosis ISO RGD:733110 D RGD:9068941 20200609 RGD PMID:17002564|REF_RGD_ID:1625350 11960636 BMP2 bone morphogenetic protein 2 gene DOID:11830 myopia ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 11960636 BMP2 bone morphogenetic protein 2 gene DOID:12185 otosclerosis susceptibility ISO RGD:733110 D RGD:9068941 20200609 RGD DNA:SNP:3'UTR:rs3178250(human) PMID:18021008|REF_RGD_ID:8698669 11960636 BMP2 bone morphogenetic protein 2 gene DOID:1324 lung cancer ISO RGD:733110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:21515830|PMID:24465802|PMID:26253951 11960636 BMP2 bone morphogenetic protein 2 gene DOID:13832 patent ductus arteriosus ISO RGD:733110 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: PDA1 11960636 BMP2 bone morphogenetic protein 2 gene DOID:182 calcinosis ISO RGD:733110 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:30963258|PMID:31843813 11960636 BMP2 bone morphogenetic protein 2 gene DOID:2340 craniosynostosis ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23160099 11960636 BMP2 bone morphogenetic protein 2 gene DOID:2352 hemochromatosis ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11960636 BMP2 bone morphogenetic protein 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:733110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11960636 BMP2 bone morphogenetic protein 2 gene DOID:4676 uremia ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 11960636 BMP2 bone morphogenetic protein 2 gene DOID:630 genetic disease ISO RGD:733110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11960636 BMP2 bone morphogenetic protein 2 gene DOID:8398 osteoarthritis susceptibility ISO RGD:733110 D RGD:9068941 20200609 RGD PMID:15334463|REF_RGD_ID:1625347 11960636 BMP2 bone morphogenetic protein 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2211 D RGD:9068941 20200609 RGD PMID:23770801|REF_RGD_ID:9068404 11960636 BMP2 bone morphogenetic protein 2 gene DOID:9000082 Craniosynostosis 7 ISO RGD:733110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis 7 PMID:27606499 11960636 BMP2 bone morphogenetic protein 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16314833 11960636 BMP2 bone morphogenetic protein 2 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29800642 11960636 BMP2 bone morphogenetic protein 2 gene DOID:9001547 Tibial Fractures ISO RGD:2211 D RGD:9068941 20200609 RGD protein:increased expression:tibia PMID:16651391|REF_RGD_ID:2289037 11960636 BMP2 bone morphogenetic protein 2 gene DOID:9002371 Cardiotoxicity ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29800642 11960636 BMP2 bone morphogenetic protein 2 gene DOID:9002589 Bone Fractures ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27394662 11960636 BMP2 bone morphogenetic protein 2 gene DOID:9004538 Hearing Loss ISO RGD:733110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30872814 11960636 BMP2 bone morphogenetic protein 2 gene DOID:9004675 Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies ISO RGD:733110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies PMID:25741868|PMID:28492532|PMID:29198724 11960636 BMP2 bone morphogenetic protein 2 gene DOID:9004971 Right Ventricle Hypoplasia ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29800642 11960636 BMP2 bone morphogenetic protein 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 11960636 BMP2 bone morphogenetic protein 2 gene DOID:9008939 Breast Neoplasms ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 11960636 BMP2 bone morphogenetic protein 2 gene DOID:9009129 Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 1 ISO RGD:733110 D RGD:7240710 20190315 OMIM 11960636 BMP2 bone morphogenetic protein 2 gene DOID:9009129 Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 1 ISO RGD:733110 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 PMID:25741868|PMID:29198724|PMID:35227291 11960643 YPEL3 yippee like 3 gene DOID:0060019 coronin-1A deficiency ISO RGD:1347620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:28492532 11960643 YPEL3 yippee like 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1347620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 11960643 YPEL3 yippee like 3 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1347620 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 11960643 YPEL3 yippee like 3 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1347620 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 11960643 YPEL3 yippee like 3 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1347620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11960643 YPEL3 yippee like 3 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1347620 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 11960643 YPEL3 yippee like 3 gene DOID:12849 autistic disorder ISO RGD:1347620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11960643 YPEL3 yippee like 3 gene DOID:1882 atrial heart septal defect ISO RGD:1347620 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 11960643 YPEL3 yippee like 3 gene DOID:5419 schizophrenia ISO RGD:1347620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11960643 YPEL3 yippee like 3 gene DOID:630 genetic disease ISO RGD:1347620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11960643 YPEL3 yippee like 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11960643 YPEL3 yippee like 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11960643 YPEL3 yippee like 3 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1347620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 11960643 YPEL3 yippee like 3 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1347620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 11960656 LRRCC1 leucine rich repeat and coiled-coil centrosomal protein 1 gene DOID:0050777 Joubert syndrome ISO RGD:1604564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders 11960656 LRRCC1 leucine rich repeat and coiled-coil centrosomal protein 1 gene DOID:630 genetic disease ISO RGD:1604564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11960686 OTUD7A OTU deubiquitinase 7A gene DOID:0050889 non-syndromic intellectual disability ISO RGD:1351552 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Non-syndromic intellectual disability PMID:25741868 11960686 OTUD7A OTU deubiquitinase 7A gene DOID:0060041 autism spectrum disorder ISO RGD:1351552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:19050728|PMID:19289393|PMID:21844811|PMID:23044707|PMID:25255310|PMID:25741868|PMID:27569545 11960686 OTUD7A OTU deubiquitinase 7A gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1351552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome 11960686 OTUD7A OTU deubiquitinase 7A gene DOID:0060394 chromosome 15q13.3 microdeletion syndrome ISO RGD:1351552 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome PMID:31690835 11960686 OTUD7A OTU deubiquitinase 7A gene DOID:12849 autistic disorder ISO RGD:1351552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311 11960686 OTUD7A OTU deubiquitinase 7A gene DOID:5419 schizophrenia ISO RGD:1351552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11960686 OTUD7A OTU deubiquitinase 7A gene DOID:630 genetic disease ISO RGD:1351552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11960686 OTUD7A OTU deubiquitinase 7A gene DOID:8927 learning disability ISO RGD:1351552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Specific learning disability PMID:31997314 11960686 OTUD7A OTU deubiquitinase 7A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11960686 OTUD7A OTU deubiquitinase 7A gene DOID:9256 colorectal cancer ISO RGD:1351552 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 11960686 OTUD7A OTU deubiquitinase 7A gene DOID:93 language disorder ISO RGD:1351552 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Language disorder PMID:31997314 11960703 CIT citron rho-interacting serine/threonine kinase gene DOID:0070288 primary autosomal recessive microcephaly 17 ISO RGD:731048 D RGD:7240710 20190315 OMIM 11960703 CIT citron rho-interacting serine/threonine kinase gene DOID:0070288 primary autosomal recessive microcephaly 17 ISO RGD:731048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 17, primary, autosomal recessive PMID:25741868|PMID:27453578|PMID:27453579|PMID:27503289|PMID:27519304|PMID:28492532 11960703 CIT citron rho-interacting serine/threonine kinase gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:731048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive primary microcephaly PMID:27453579|PMID:27503289 11960703 CIT citron rho-interacting serine/threonine kinase gene DOID:0080600 COVID-19 ISO RGD:731048 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11960703 CIT citron rho-interacting serine/threonine kinase gene DOID:1059 intellectual disability ISO RGD:731048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11960703 CIT citron rho-interacting serine/threonine kinase gene DOID:10907 microcephaly ISO RGD:70878 D RGD:9068941 20200609 RGD PMID:10219263|REF_RGD_ID:13204836 11960703 CIT citron rho-interacting serine/threonine kinase gene DOID:11832 visual epilepsy ISO RGD:70878 D RGD:9068941 20200609 RGD PMID:10219263|REF_RGD_ID:13204836 11960703 CIT citron rho-interacting serine/threonine kinase gene DOID:11832 visual epilepsy ISO RGD:731049 D RGD:9068941 20200609 RGD PMID:11086988|REF_RGD_ID:734780 11960703 CIT citron rho-interacting serine/threonine kinase gene DOID:1826 epilepsy ISO RGD:70878 D RGD:9068941 20201211 RGD PMID:10219263|REF_RGD_ID:13204836 11960703 CIT citron rho-interacting serine/threonine kinase gene DOID:2843 long QT syndrome ISO RGD:731048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11960703 CIT citron rho-interacting serine/threonine kinase gene DOID:630 genetic disease ISO RGD:731048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27453579|PMID:28492532 11960703 CIT citron rho-interacting serine/threonine kinase gene DOID:9004866 Ataxia ISO RGD:731049 D RGD:9068941 20200609 RGD PMID:11086988|REF_RGD_ID:734780 11960703 CIT citron rho-interacting serine/threonine kinase gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:731048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11960760 RBM44 RNA binding motif protein 44 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1625816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11960760 RBM44 RNA binding motif protein 44 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1625816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11960760 RBM44 RNA binding motif protein 44 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1625816 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11960760 RBM44 RNA binding motif protein 44 gene DOID:1059 intellectual disability ISO RGD:1625816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11960760 RBM44 RNA binding motif protein 44 gene DOID:630 genetic disease ISO RGD:1625816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11960760 RBM44 RNA binding motif protein 44 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1625816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11960786 IQCK IQ motif containing K gene DOID:10652 Alzheimer's disease ISO RGD:1605300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30820047 11960786 IQCK IQ motif containing K gene DOID:630 genetic disease ISO RGD:1605300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11960818 SALL1 spalt like transcription factor 1 gene DOID:0050887 Townes-Brocks syndrome ISO RGD:1320515 D RGD:7240710 20180130 OMIM 11960818 SALL1 spalt like transcription factor 1 gene DOID:0050887 Townes-Brocks syndrome ISO RGD:1320515 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, sensorineural, with imperforate anus and hypoplastic thumbs | ClinVar Annotator: match by term: Townes syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 PMID:10533063|PMID:10819639|PMID:10928856|PMID:11102974|PMID:11478532|PMID:11484202|PMID:12915476|PMID:14627694|PMID:14755477|PMID:16088922|PMID:16971658|PMID:17221874|PMID:17431915|PMID:18000979|PMID:19005989|PMID:19429598|PMID:20301618|PMID:23069192|PMID:23894113|PMID:24429398|PMID:25741868|PMID:25741886|PMID:26380986|PMID:26467025|PMID:26489027|PMID:27073431|PMID:27657687|PMID:28492532|PMID:29758562|PMID:30143558|PMID:30311386|PMID:30655312|PMID:8133838|PMID:9425907|PMID:9973281 11960818 SALL1 spalt like transcription factor 1 gene DOID:0080205 CAKUT ISO RGD:1320515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868|PMID:28492532|PMID:30143558 11960818 SALL1 spalt like transcription factor 1 gene DOID:0111122 nephronophthisis 14 ISO RGD:1320515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 11960818 SALL1 spalt like transcription factor 1 gene DOID:0111766 X-linked VACTERL association ISO RGD:1320515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: VACTERL-H PMID:25741868 11960818 SALL1 spalt like transcription factor 1 gene DOID:10907 microcephaly ISO RGD:1320515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11960818 SALL1 spalt like transcription factor 1 gene DOID:14766 renal agenesis ISO RGD:1320516 D RGD:9068941 20221103 RGD PMID:11688560|REF_RGD_ID:155641230 11960818 SALL1 spalt like transcription factor 1 gene DOID:2810 middle lobe syndrome ISO RGD:1320515 D RGD:9068941 20200609 RGD Townes-Brocks syndrome. OMIM:602218 PMID:11102974|PMID:16088922|REF_RGD_ID:1599551|REF_RGD_ID:1599553 11960818 SALL1 spalt like transcription factor 1 gene DOID:5176 renal Wilms' tumor ISO RGD:1320515 D RGD:9068941 20221103 RGD human tumor in mouse model PMID:18467665|REF_RGD_ID:155631277 11960818 SALL1 spalt like transcription factor 1 gene DOID:630 genetic disease ISO RGD:1320515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11960818 SALL1 spalt like transcription factor 1 gene DOID:687 hepatoblastoma ISO RGD:1320515 D RGD:9068941 20200609 RGD embryonal subtype;protein:increased expression:liver, nucleus (human) PMID:23822878|REF_RGD_ID:11556217 11960818 SALL1 spalt like transcription factor 1 gene DOID:784 chronic kidney disease treatment ISO RGD:1320515 D RGD:9068941 20221103 RGD human cells in rat model PMID:33298161|REF_RGD_ID:155631310 11960818 SALL1 spalt like transcription factor 1 gene DOID:9004452 Townes-Brocks-Branchiootorenal-Like Syndrome ISO RGD:1320515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome PMID:10928856|PMID:12915476|PMID:14755477|PMID:16088922|PMID:23069192|PMID:28492532|PMID:9973281 11960818 SALL1 spalt like transcription factor 1 gene DOID:9004994 Embryo Loss ISO RGD:1320516 D RGD:9068941 20221103 RGD PMID:11688560|REF_RGD_ID:155641230 11960818 SALL1 spalt like transcription factor 1 gene DOID:9005835 Congenital Abnormalities ISO RGD:1320515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20127799 11960818 SALL1 spalt like transcription factor 1 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1320515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16088922|PMID:9425907 11960818 SALL1 spalt like transcription factor 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:1320515 D RGD:9068941 20200609 RGD Townes-Brocks syndrome. OMIM:602218 PMID:11102974|PMID:16088922|REF_RGD_ID:1599551|REF_RGD_ID:1599553 11960824 NXPE4 neurexophilin and PC-esterase domain family member 4 gene DOID:1059 intellectual disability ISO RGD:1350536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11960824 NXPE4 neurexophilin and PC-esterase domain family member 4 gene DOID:630 genetic disease ISO RGD:1350536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11960824 NXPE4 neurexophilin and PC-esterase domain family member 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1350536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11960824 NXPE4 neurexophilin and PC-esterase domain family member 4 gene DOID:9007661 Dwarfism ISO RGD:1350536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11960837 SSNA1 SS nuclear autoantigen 1 gene DOID:0050777 Joubert syndrome ISO RGD:1321056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11960837 SSNA1 SS nuclear autoantigen 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1321056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 11960837 SSNA1 SS nuclear autoantigen 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1321056 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 11960837 SSNA1 SS nuclear autoantigen 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11960837 SSNA1 SS nuclear autoantigen 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1321056 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11960837 SSNA1 SS nuclear autoantigen 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1321056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11960837 SSNA1 SS nuclear autoantigen 1 gene DOID:1826 epilepsy ISO RGD:1321056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11960837 SSNA1 SS nuclear autoantigen 1 gene DOID:630 genetic disease ISO RGD:1321056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11960837 SSNA1 SS nuclear autoantigen 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1321056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11960844 EXOC6B exocyst complex component 6B gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1349809 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11960844 EXOC6B exocyst complex component 6B gene DOID:0112200 spondyloepimetaphyseal dysplasia with joint laxity type 3 ISO RGD:1349809 D RGD:7240710 20190515 OMIM 11960844 EXOC6B exocyst complex component 6B gene DOID:0112200 spondyloepimetaphyseal dysplasia with joint laxity type 3 ISO RGD:1349809 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 3 PMID:25741868|PMID:26669664|PMID:30284759 11960844 EXOC6B exocyst complex component 6B gene DOID:5419 schizophrenia ISO RGD:1349809 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11960844 EXOC6B exocyst complex component 6B gene DOID:543 dystonia ISO RGD:1349809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11960844 EXOC6B exocyst complex component 6B gene DOID:630 genetic disease ISO RGD:1349809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11960844 EXOC6B exocyst complex component 6B gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1349809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11960872 EIF2D eukaryotic translation initiation factor 2D gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1322883 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11960872 EIF2D eukaryotic translation initiation factor 2D gene DOID:12849 autistic disorder ISO RGD:1322883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11960872 EIF2D eukaryotic translation initiation factor 2D gene DOID:1540 parathyroid carcinoma ISO RGD:1322883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11960872 EIF2D eukaryotic translation initiation factor 2D gene DOID:630 genetic disease ISO RGD:1322883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11960872 EIF2D eukaryotic translation initiation factor 2D gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1322883 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11960872 EIF2D eukaryotic translation initiation factor 2D gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11960893 C13H13orf42 chromosome 13 C13orf42 homolog gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:7242868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11960905 YIF1A Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:0060071 pre-malignant neoplasm ISO RGD:732225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11960905 YIF1A Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:732225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 11960905 YIF1A Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:1059 intellectual disability ISO RGD:732225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11960905 YIF1A Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11960905 YIF1A Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:2746 glycogen storage disease V ISO RGD:732225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11960905 YIF1A Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:630 genetic disease ISO RGD:732225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11960905 YIF1A Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:732225 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11960905 YIF1A Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:9007188 Liver Neoplasms ISO RGD:732225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11960905 YIF1A Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:732225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11960921 BCAS3 BCAS3 microtubule associated cell migration factor gene DOID:0050777 Joubert syndrome ISO RGD:1319844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11960921 BCAS3 BCAS3 microtubule associated cell migration factor gene DOID:11372 megacolon ISO RGD:1319844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11960921 BCAS3 BCAS3 microtubule associated cell migration factor gene DOID:1612 breast cancer ISO RGD:1319844 D RGD:9068941 20200609 RGD PMID:16855396|REF_RGD_ID:2317828 11960921 BCAS3 BCAS3 microtubule associated cell migration factor gene DOID:630 genetic disease ISO RGD:1319844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11960921 BCAS3 BCAS3 microtubule associated cell migration factor gene DOID:9005952 HENGEL-MAROOFIAN-SCHOLS SYNDROME ISO RGD:1319844 D RGD:7240710 20220209 OMIM 11960921 BCAS3 BCAS3 microtubule associated cell migration factor gene DOID:9005952 HENGEL-MAROOFIAN-SCHOLS SYNDROME ISO RGD:1319844 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hengel-Maroofian-Schols syndrome PMID:25741868|PMID:34022130 11960921 BCAS3 BCAS3 microtubule associated cell migration factor gene DOID:9008086 Developmental Disabilities ISO RGD:1319844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:34022130 11960960 MIR1915HG MIR1915 host gene gene DOID:630 genetic disease ISO RGD:1348766 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11960971 PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting gene DOID:0050545 visceral heterotaxy ISO RGD:1352736 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Situs ambiguus | ClinVar Annotator: match by term: Visceral heterotaxy 11960971 PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11960971 PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting gene DOID:630 genetic disease ISO RGD:1352736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27616478|PMID:28492532|PMID:31026592 11960971 PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting gene DOID:758 situs inversus ISO RGD:1352736 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Laterality sequence | ClinVar Annotator: match by term: Situs inversus PMID:25741868|PMID:27616478|PMID:30664273|PMID:32111882 11960971 PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting gene DOID:758 situs inversus susceptibility ISO RGD:1615749 D RGD:9068941 20221027 RGD PMID:20080492|REF_RGD_ID:155630601 11960971 PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting gene DOID:9000438 Subarachnoid Hemorrhage susceptibility ISO RGD:1352736 D RGD:9068941 20221027 RGD DNA:polymorphism:cds:p.Gly243Asp(human) PMID:16741147|REF_RGD_ID:155630602 11960971 PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting gene DOID:9007421 Visceral Heterotaxy 8, Autosomal ISO RGD:1352736 D RGD:7240710 20190315 OMIM 11960971 PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting gene DOID:9007421 Visceral Heterotaxy 8, Autosomal ISO RGD:1352736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 8, autosomal PMID:25741868|PMID:27616478|PMID:28492532|PMID:30664273|PMID:31026592|PMID:32111882|PMID:34008892 11961035 VEGFD vascular endothelial growth factor D gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11961035 VEGFD vascular endothelial growth factor D gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:731830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 11961035 VEGFD vascular endothelial growth factor D gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:731830 D RGD:9068941 20200609 RGD PMID:17970053|REF_RGD_ID:2315479 11961035 VEGFD vascular endothelial growth factor D gene DOID:12849 autistic disorder ISO RGD:731830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11961035 VEGFD vascular endothelial growth factor D gene DOID:13636 Fanconi anemia ISO RGD:731830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 11961035 VEGFD vascular endothelial growth factor D gene DOID:3319 lymphangioleiomyomatosis ISO RGD:731830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20038814 11961035 VEGFD vascular endothelial growth factor D gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:731830 D RGD:9068941 20221027 RGD protein:increased expression:blood serum (human) PMID:21410412|REF_RGD_ID:155630646 11961035 VEGFD vascular endothelial growth factor D gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:731830 D RGD:9068941 20200609 RGD PMID:18343598|REF_RGD_ID:2315478 11961035 VEGFD vascular endothelial growth factor D gene DOID:7575 pancreatic intraductal papillary-mucinous neoplasm ISO RGD:731830 D RGD:9068941 20221027 RGD protein:increased expression:blood serum (human) PMID:21410412|REF_RGD_ID:155630646 11961035 VEGFD vascular endothelial growth factor D gene DOID:9000081 Lymphatic Metastasis ISO RGD:731830 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:17951197|REF_RGD_ID:2315480 11961035 VEGFD vascular endothelial growth factor D gene DOID:9000081 Lymphatic Metastasis ISO RGD:731830 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms PMID:19589137|REF_RGD_ID:2315475 11961035 VEGFD vascular endothelial growth factor D gene DOID:9004009 Reperfusion Injury ISO RGD:731830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 11961035 VEGFD vascular endothelial growth factor D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11961047 EIF3F eukaryotic translation initiation factor 3 subunit F gene DOID:0081228 autosomal recessive intellectual developmental disorder 67 ISO RGD:1314535 D RGD:7240710 20190315 OMIM 11961047 EIF3F eukaryotic translation initiation factor 3 subunit F gene DOID:0081228 autosomal recessive intellectual developmental disorder 67 ISO RGD:1314535 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 67 PMID:25741868|PMID:30409806|PMID:33736665 11961047 EIF3F eukaryotic translation initiation factor 3 subunit F gene DOID:1059 intellectual disability ISO RGD:1314535 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:30409806|PMID:33736665 11961047 EIF3F eukaryotic translation initiation factor 3 subunit F gene DOID:630 genetic disease ISO RGD:1314535 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30409806|PMID:33736665 11961047 EIF3F eukaryotic translation initiation factor 3 subunit F gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314535 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30409806|PMID:33736665 11961047 EIF3F eukaryotic translation initiation factor 3 subunit F gene DOID:9009097 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies ISO RGD:1314535 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies PMID:25741868|PMID:30409806|PMID:33736665 11961047 EIF3F eukaryotic translation initiation factor 3 subunit F gene DOID:9352 type 2 diabetes mellitus ISO RGD:1306112 D RGD:9068941 20200609 RGD PMID:12875716|REF_RGD_ID:10755506 11961061 MAN2A1 mannosidase alpha class 2A member 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:735705 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11961061 MAN2A1 mannosidase alpha class 2A member 1 gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:735706 D RGD:9068941 20220825 MouseDO OMIM:105600 | OMIM:224100 | OMIM:224120 | OMIM:613673 | OMIM:615631 11961061 MAN2A1 mannosidase alpha class 2A member 1 gene DOID:630 genetic disease ISO RGD:735705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11961061 MAN2A1 mannosidase alpha class 2A member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11961061 MAN2A1 mannosidase alpha class 2A member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 11961061 MAN2A1 mannosidase alpha class 2A member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735705 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11961061 MAN2A1 mannosidase alpha class 2A member 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:735706 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 11961089 PLPP3 phospholipid phosphatase 3 gene DOID:3393 coronary artery disease ISO RGD:1604845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 11961089 PLPP3 phospholipid phosphatase 3 gene DOID:630 genetic disease ISO RGD:1604845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11961089 PLPP3 phospholipid phosphatase 3 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1604845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28982073 11961089 PLPP3 phospholipid phosphatase 3 gene DOID:9003936 Cardiomegaly ISO RGD:1604845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28982073 11961099 CCR9 C-C motif chemokine receptor 9 gene DOID:0080600 COVID-19 ISO RGD:1352272 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11961099 CCR9 C-C motif chemokine receptor 9 gene DOID:10487 Hirschsprung's disease ISO RGD:1352272 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 11961099 CCR9 C-C motif chemokine receptor 9 gene DOID:1205 allergic disease ISO RGD:1352272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11961099 CCR9 C-C motif chemokine receptor 9 gene DOID:1824 status epilepticus ISO RGD:1352272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17181556 11961099 CCR9 C-C motif chemokine receptor 9 gene DOID:2841 asthma ISO RGD:1352272 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:blood, mature NK T cell PMID:16210593|REF_RGD_ID:5130925 11961099 CCR9 C-C motif chemokine receptor 9 gene DOID:552 pneumonia ISO RGD:1352272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11961099 CCR9 C-C motif chemokine receptor 9 gene DOID:630 genetic disease ISO RGD:1352272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11961099 CCR9 C-C motif chemokine receptor 9 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1352272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11961110 BNC2 basonuclin 2 gene DOID:2187 amelogenesis imperfecta ISO RGD:1321747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta 11961110 BNC2 basonuclin 2 gene DOID:630 genetic disease ISO RGD:1321747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11961110 BNC2 basonuclin 2 gene DOID:674 cleft palate ISO RGD:1321747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19706529 11961110 BNC2 basonuclin 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1321747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20852632 11961110 BNC2 basonuclin 2 gene DOID:9006024 Hypotension ISO RGD:1321747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotension PMID:24033266|PMID:28492532 11961110 BNC2 basonuclin 2 gene DOID:9007386 Congenital Lower Urinary Tract Obstruction ISO RGD:1321747 D RGD:7240710 20191113 OMIM 11961110 BNC2 basonuclin 2 gene DOID:9007386 Congenital Lower Urinary Tract Obstruction ISO RGD:1321747 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital PMID:25741868|PMID:28492532|PMID:31051115 11961110 BNC2 basonuclin 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1321747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19706529 11961154 MCCC1 methylcrotonyl-CoA carboxylase subunit 1 gene DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency ISO RGD:1321620 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency PMID:10485305|PMID:11170888|PMID:11181649|PMID:11406611|PMID:14680978|PMID:15359379|PMID:15868465|PMID:16010683|PMID:16199547|PMID:16835865|PMID:17576681|PMID:22264772|PMID:22642865|PMID:24033266|PMID:25356967|PMID:25382614|PMID:25741868|PMID:26566957|PMID:27601257|PMID:28492532|PMID:29111448|PMID:30626930|PMID:31730530|PMID:31901042|PMID:32746448|PMID:9536098 11961154 MCCC1 methylcrotonyl-CoA carboxylase subunit 1 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1321620 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11961154 MCCC1 methylcrotonyl-CoA carboxylase subunit 1 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1321620 D RGD:7240710 20180130 OMIM 11961154 MCCC1 methylcrotonyl-CoA carboxylase subunit 1 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1321620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 | ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 1 deficiency PMID:10485305|PMID:11170888|PMID:11181649|PMID:11406611|PMID:14680978|PMID:15359379|PMID:15868465|PMID:16010683|PMID:16199547|PMID:16835865|PMID:17576681|PMID:17968484|PMID:19339287|PMID:21071250|PMID:22264772|PMID:22642865|PMID:24033266|PMID:24078573|PMID:25190158|PMID:25356967|PMID:25382614|PMID:25640679|PMID:25741868|PMID:26566957|PMID:27577216|PMID:27601257|PMID:28492532|PMID:29111448|PMID:30626930|PMID:30887117|PMID:31730530|PMID:31901042|PMID:32746448|PMID:9187484|PMID:9536098 11961154 MCCC1 methylcrotonyl-CoA carboxylase subunit 1 gene DOID:0081327 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures ISO RGD:1321620 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures PMID:11181649|PMID:15359379|PMID:16199547|PMID:22642865|PMID:25741868|PMID:28492532 11961154 MCCC1 methylcrotonyl-CoA carboxylase subunit 1 gene DOID:0111546 Currarino syndrome ISO RGD:1321620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11961154 MCCC1 methylcrotonyl-CoA carboxylase subunit 1 gene DOID:630 genetic disease ISO RGD:1321620 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10485305|PMID:11170888|PMID:11181649|PMID:14680978|PMID:15359379|PMID:15868465|PMID:16010683|PMID:16835865|PMID:17576681|PMID:22264772|PMID:22642865|PMID:25356967|PMID:25741868|PMID:28492532|PMID:29111448|PMID:30626930|PMID:9536098 11961154 MCCC1 methylcrotonyl-CoA carboxylase subunit 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11961182 TRMT61A tRNA methyltransferase 61A gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1343016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11961182 TRMT61A tRNA methyltransferase 61A gene DOID:630 genetic disease ISO RGD:1343016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11961182 TRMT61A tRNA methyltransferase 61A gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1343016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 11961195 MYL6B myosin light chain 6B gene DOID:630 genetic disease ISO RGD:1606964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11961195 MYL6B myosin light chain 6B gene DOID:9000058 Keloid ISO RGD:1606964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 11961225 SERINC3 serine incorporator 3 gene DOID:2234 focal epilepsy ISO RGD:1318130 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11961225 SERINC3 serine incorporator 3 gene DOID:630 genetic disease ISO RGD:1318130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11961225 SERINC3 serine incorporator 3 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1318130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11961225 SERINC3 serine incorporator 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11961248 MTLN mitoregulin gene DOID:0050795 cone dystrophy ISO RGD:2303856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:28041643 11961248 MTLN mitoregulin gene DOID:0060041 autism spectrum disorder ISO RGD:2303856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:24807792|PMID:25255310 11961248 MTLN mitoregulin gene DOID:0111112 nephronophthisis 1 ISO RGD:2303856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis 1 PMID:10839884|PMID:10980528 11961267 ZCCHC13 zinc finger CCHC-type containing 13 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11961267 ZCCHC13 zinc finger CCHC-type containing 13 gene DOID:12849 autistic disorder ISO RGD:1346047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11961267 ZCCHC13 zinc finger CCHC-type containing 13 gene DOID:630 genetic disease ISO RGD:1346047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11961276 RHOV ras homolog family member V gene DOID:2717 Bloom syndrome ISO RGD:1604729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11961276 RHOV ras homolog family member V gene DOID:630 genetic disease ISO RGD:1604729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11961276 RHOV ras homolog family member V gene DOID:9256 colorectal cancer ISO RGD:1604729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11961283 SMAD7 SMAD family member 7 gene DOID:0060224 atrial fibrillation ISO RGD:1344957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11961283 SMAD7 SMAD family member 7 gene DOID:0080412 familial adenomatous polyposis 4 ISO RGD:1344957 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 4 PMID:25741868 11961283 SMAD7 SMAD family member 7 gene DOID:1059 intellectual disability ISO RGD:1344957 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11961283 SMAD7 SMAD family member 7 gene DOID:10952 nephritis ISO RGD:69314 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:11170839|REF_RGD_ID:2315074 11961283 SMAD7 SMAD family member 7 gene DOID:1380 endometrial cancer disease_progression ISO RGD:1344957 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:15661223|REF_RGD_ID:2299963 11961283 SMAD7 SMAD family member 7 gene DOID:1793 pancreatic cancer ISO RGD:1344957 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (human) PMID:10498890|REF_RGD_ID:14394510 11961283 SMAD7 SMAD family member 7 gene DOID:3770 pulmonary fibrosis ISO RGD:1344957 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23590892 11961283 SMAD7 SMAD family member 7 gene DOID:4074 pancreatic adenocarcinoma severity ISO RGD:1344957 D RGD:9068941 20200609 RGD human cell and construct in a mouse model PMID:10498890|REF_RGD_ID:14394510 11961283 SMAD7 SMAD family member 7 gene DOID:5082 liver cirrhosis ISO RGD:1344957 D RGD:9068941 20200609 RGD associated with hepatocellular carcinoma; mRNA:increased expression:liver (human) PMID:25602745|REF_RGD_ID:14401589 11961283 SMAD7 SMAD family member 7 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11961283 SMAD7 SMAD family member 7 gene DOID:630 genetic disease ISO RGD:1344957 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11961283 SMAD7 SMAD family member 7 gene DOID:6432 pulmonary hypertension ISO RGD:69314 D RGD:9068941 20200609 RGD PMID:17347486|REF_RGD_ID:1643222 11961283 SMAD7 SMAD family member 7 gene DOID:684 hepatocellular carcinoma ISO RGD:1344957 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:25602745|REF_RGD_ID:14401589 11961283 SMAD7 SMAD family member 7 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:69314 D RGD:9068941 20200609 RGD mRNA:increased expression:hypoglossal nucleus PMID:17166487|REF_RGD_ID:1643227 11961283 SMAD7 SMAD family member 7 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1344957 D RGD:9068941 20200609 RGD DNA:polymorphism:cds PMID:11078792|REF_RGD_ID:2300008 11961283 SMAD7 SMAD family member 7 gene DOID:9004018 Paraquat Lung ISO RGD:1344957 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23590892 11961283 SMAD7 SMAD family member 7 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1344957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17934461 11961283 SMAD7 SMAD family member 7 gene DOID:9256 colorectal cancer ISO RGD:1344957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 3 PMID:17934461|PMID:18372901|PMID:18372905 11961283 SMAD7 SMAD family member 7 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1344957 D RGD:7240710 20200226 OMIM 11961298 TFE3 transcription factor binding to IGHM enhancer 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11961298 TFE3 transcription factor binding to IGHM enhancer 3 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1351703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 11961298 TFE3 transcription factor binding to IGHM enhancer 3 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1351703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11961298 TFE3 transcription factor binding to IGHM enhancer 3 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1351703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11961298 TFE3 transcription factor binding to IGHM enhancer 3 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1351703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11961298 TFE3 transcription factor binding to IGHM enhancer 3 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1351703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 11961298 TFE3 transcription factor binding to IGHM enhancer 3 gene DOID:1059 intellectual disability ISO RGD:1351703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11961298 TFE3 transcription factor binding to IGHM enhancer 3 gene DOID:12849 autistic disorder ISO RGD:1351703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11961298 TFE3 transcription factor binding to IGHM enhancer 3 gene DOID:4450 renal cell carcinoma ISO RGD:1351703 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11961298 TFE3 transcription factor binding to IGHM enhancer 3 gene DOID:4450 renal cell carcinoma ISO RGD:1351703 D RGD:9068941 20200609 RGD PMID:12917640|REF_RGD_ID:1599384 11961298 TFE3 transcription factor binding to IGHM enhancer 3 gene DOID:630 genetic disease ISO RGD:1351703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30595499|PMID:32409512 11961298 TFE3 transcription factor binding to IGHM enhancer 3 gene DOID:9001418 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES ISO RGD:1351703 D RGD:7240710 20220209 OMIM 11961298 TFE3 transcription factor binding to IGHM enhancer 3 gene DOID:9001418 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES ISO RGD:1351703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies PMID:25741868|PMID:30595499|PMID:31833172|PMID:32409512 11961298 TFE3 transcription factor binding to IGHM enhancer 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30595499|PMID:31833172|PMID:32409512 11961298 TFE3 transcription factor binding to IGHM enhancer 3 gene DOID:9006749 Renal Cell Carcinoma, Xp11-Associated ISO RGD:1351703 D RGD:7240710 20180130 OMIM 11961298 TFE3 transcription factor binding to IGHM enhancer 3 gene DOID:9006749 Renal Cell Carcinoma, Xp11-Associated ISO RGD:1351703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma, Xp11-associated 11961318 LOC100986472 death-associated protein kinase 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19874806 11961318 LOC100986472 death-associated protein kinase 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11961318 LOC100986472 death-associated protein kinase 1 gene DOID:11054 urinary bladder cancer ISO RGD:1323186 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:12124340|REF_RGD_ID:734875 11961318 LOC100986472 death-associated protein kinase 1 gene DOID:1579 respiratory system disease ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23872714 11961318 LOC100986472 death-associated protein kinase 1 gene DOID:2661 myoepithelioma ISO RGD:1323186 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11961318 LOC100986472 death-associated protein kinase 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17133271 11961318 LOC100986472 death-associated protein kinase 1 gene DOID:299 adenocarcinoma ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15172992 11961318 LOC100986472 death-associated protein kinase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11313923 11961318 LOC100986472 death-associated protein kinase 1 gene DOID:4251 conjunctival disease ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23872714 11961318 LOC100986472 death-associated protein kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17133271 11961318 LOC100986472 death-associated protein kinase 1 gene DOID:574 peripheral nervous system disease ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23872714 11961318 LOC100986472 death-associated protein kinase 1 gene DOID:630 genetic disease ISO RGD:1323186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11961318 LOC100986472 death-associated protein kinase 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11961318 LOC100986472 death-associated protein kinase 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17319784 11961318 LOC100986472 death-associated protein kinase 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11961318 LOC100986472 death-associated protein kinase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15172992 11961318 LOC100986472 death-associated protein kinase 1 gene DOID:9005715 Neoplasms, Second Primary ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19874806 11961318 LOC100986472 death-associated protein kinase 1 gene DOID:9007502 Brain Neoplasms ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17319784 11961318 LOC100986472 death-associated protein kinase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19874806 11961353 EVC2 EvC ciliary complex subunit 2 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1321308 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:17024374|PMID:19251731|PMID:19810119|PMID:19876929|PMID:25741868|PMID:28492532|PMID:29068549 11961353 EVC2 EvC ciliary complex subunit 2 gene DOID:0050778 Meckel syndrome ISO RGD:1321308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25558065 11961353 EVC2 EvC ciliary complex subunit 2 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1321308 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:12571802|PMID:17024374|PMID:19810119|PMID:19876929|PMID:21199751|PMID:22190900|PMID:23026208|PMID:25525159|PMID:25741868|PMID:28492532|PMID:29068549 11961353 EVC2 EvC ciliary complex subunit 2 gene DOID:0111571 Weyers acrofacial dysostosis ISO RGD:1321308 D RGD:7240710 20180130 OMIM 11961353 EVC2 EvC ciliary complex subunit 2 gene DOID:0111571 Weyers acrofacial dysostosis ISO RGD:1321308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Curry-Hall syndrome PMID:16404586|PMID:17024374|PMID:18182642|PMID:19251731|PMID:19810119|PMID:19876929|PMID:23220543|PMID:25741868|PMID:28492532 11961353 EVC2 EvC ciliary complex subunit 2 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1321308 D RGD:7240710 20180130 OMIM 11961353 EVC2 EvC ciliary complex subunit 2 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1321308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:12468274|PMID:12571802|PMID:16199547|PMID:16404586|PMID:17024374|PMID:17576681|PMID:18454448|PMID:19251731|PMID:19810119|PMID:19876929|PMID:20184732|PMID:21199751|PMID:21815252|PMID:22190900|PMID:22406498|PMID:23026208|PMID:23220543|PMID:24033266|PMID:25047945|PMID:25174843|PMID:25326635|PMID:25500235|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26064711|PMID:26580685|PMID:26748586|PMID:26818569|PMID:27168972|PMID:27280866|PMID:28492532|PMID:29068549|PMID:29456477|PMID:30881389|PMID:31645978|PMID:32369273|PMID:7218275|PMID:9536098 11961353 EVC2 EvC ciliary complex subunit 2 gene DOID:12714 Ellis-Van Creveld syndrome susceptibility ISO RGD:1321308 D RGD:9068941 20200609 RGD DNA:mutations PMID:12571802|REF_RGD_ID:1600212 11961353 EVC2 EvC ciliary complex subunit 2 gene DOID:630 genetic disease ISO RGD:1321308 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12468274|PMID:17024374|PMID:19810119|PMID:19876929|PMID:23220543|PMID:24033266|PMID:25525159|PMID:25741868|PMID:28492532 11961353 EVC2 EvC ciliary complex subunit 2 gene DOID:6678 tooth and nail syndrome ISO RGD:1321308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:14630905|PMID:28492532|PMID:9742121 11961353 EVC2 EvC ciliary complex subunit 2 gene DOID:9249 Beemer-Langer syndrome ISO RGD:1321308 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome PMID:17024374|PMID:19810119|PMID:19876929|PMID:25741868|PMID:28492532|PMID:29068549 11961394 LOC100987305 Leucine-rich repeat-containing protein 29 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1353942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11961394 LOC100987305 Leucine-rich repeat-containing protein 29 gene DOID:10316 pneumoconiosis ISO RGD:1353942 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 11961394 LOC100987305 Leucine-rich repeat-containing protein 29 gene DOID:630 genetic disease ISO RGD:1353942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11961404 TAF9B TATA-box binding protein associated factor 9b gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11961404 TAF9B TATA-box binding protein associated factor 9b gene DOID:1059 intellectual disability ISO RGD:1351331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11961404 TAF9B TATA-box binding protein associated factor 9b gene DOID:12849 autistic disorder ISO RGD:1351331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11961404 TAF9B TATA-box binding protein associated factor 9b gene DOID:630 genetic disease ISO RGD:1351331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11961416 SEC62 SEC62 homolog, preprotein translocation factor gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1318878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 11961416 SEC62 SEC62 homolog, preprotein translocation factor gene DOID:1062 Fanconi syndrome ISO RGD:1318878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 11961416 SEC62 SEC62 homolog, preprotein translocation factor gene DOID:630 genetic disease ISO RGD:1318878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11961434 STBD1 starch binding domain 1 gene DOID:630 genetic disease ISO RGD:1604058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11961434 STBD1 starch binding domain 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1604058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 11961434 STBD1 starch binding domain 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1604058 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11961440 FBXO17 F-box protein 17 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1318004 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11961440 FBXO17 F-box protein 17 gene DOID:630 genetic disease ISO RGD:1318004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11961440 FBXO17 F-box protein 17 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1318004 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11961455 PPIL4 peptidylprolyl isomerase like 4 gene DOID:630 genetic disease ISO RGD:1322302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11961481 TPM4 tropomyosin 4 gene DOID:0060071 pre-malignant neoplasm ISO RGD:736665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 11961481 TPM4 tropomyosin 4 gene DOID:10320 asbestosis ISO RGD:736665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22537621 11961481 TPM4 tropomyosin 4 gene DOID:11476 osteoporosis ISO RGD:736665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 11961481 TPM4 tropomyosin 4 gene DOID:2213 hemorrhagic disease ISO RGD:736665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 11961481 TPM4 tropomyosin 4 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11961481 TPM4 tropomyosin 4 gene DOID:630 genetic disease ISO RGD:736665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11961481 TPM4 tropomyosin 4 gene DOID:9000117 Esophageal Neoplasms ISO RGD:736665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 11961481 TPM4 tropomyosin 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 11961481 TPM4 tropomyosin 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11961481 TPM4 tropomyosin 4 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:736665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 11961481 TPM4 tropomyosin 4 gene DOID:9004657 Weight Gain ISO RGD:736665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11961504 CSGALNACT2 chondroitin sulfate N-acetylgalactosaminyltransferase 2 gene DOID:630 genetic disease ISO RGD:1604805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11961523 SNX4 sorting nexin 4 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1320273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 11961523 SNX4 sorting nexin 4 gene DOID:630 genetic disease ISO RGD:1320273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11961523 SNX4 sorting nexin 4 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1320273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 11961523 SNX4 sorting nexin 4 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1320273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 11961523 SNX4 sorting nexin 4 gene DOID:9270 alkaptonuria ISO RGD:1320273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11961541 PRSS50 serine protease 50 gene DOID:630 genetic disease ISO RGD:1605685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11961541 PRSS50 serine protease 50 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1605685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11961551 PCSK2 proprotein convertase subtilisin/kexin type 2 gene DOID:0110264 cataract 33 ISO RGD:736345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 33 PMID:28492532 11961551 PCSK2 proprotein convertase subtilisin/kexin type 2 gene DOID:5844 myocardial infarction ISO RGD:736345 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs6080699) (human) PMID:20036365|REF_RGD_ID:6483554 11961551 PCSK2 proprotein convertase subtilisin/kexin type 2 gene DOID:630 genetic disease ISO RGD:736345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11961551 PCSK2 proprotein convertase subtilisin/kexin type 2 gene DOID:784 chronic kidney disease ISO RGD:3273 D RGD:9068941 20200609 RGD PMID:18039782|REF_RGD_ID:6483556 11961551 PCSK2 proprotein convertase subtilisin/kexin type 2 gene DOID:9004009 Reperfusion Injury ISO RGD:3273 D RGD:9068941 20200609 RGD PMID:19142196|REF_RGD_ID:6483555 11961551 PCSK2 proprotein convertase subtilisin/kexin type 2 gene DOID:9004009 Reperfusion Injury ISO RGD:736346 D RGD:9068941 20200609 RGD PMID:19142196|REF_RGD_ID:6483555 11961551 PCSK2 proprotein convertase subtilisin/kexin type 2 gene DOID:9005372 Inflammation ISO RGD:3273 D RGD:9068941 20200609 RGD PMID:14630714|REF_RGD_ID:2308900 11961551 PCSK2 proprotein convertase subtilisin/kexin type 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3273 D RGD:9068941 20200609 RGD mRNA:increased expression:spleen PMID:11730986|REF_RGD_ID:2308905 11961551 PCSK2 proprotein convertase subtilisin/kexin type 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 11961551 PCSK2 proprotein convertase subtilisin/kexin type 2 gene DOID:9005930 Endotoxemia ISO RGD:3273 D RGD:9068941 20200609 RGD PMID:16337011|REF_RGD_ID:6483567 11961551 PCSK2 proprotein convertase subtilisin/kexin type 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 11961551 PCSK2 proprotein convertase subtilisin/kexin type 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736345 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2CA (human) PMID:7698505|REF_RGD_ID:2308936 11961567 CABIN1 calcineurin binding protein 1 gene DOID:10283 prostate cancer ISO RGD:732324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11961567 CABIN1 calcineurin binding protein 1 gene DOID:1826 epilepsy ISO RGD:732324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11961567 CABIN1 calcineurin binding protein 1 gene DOID:4001 ovarian carcinoma ISO RGD:732324 D RGD:9068941 20200609 RGD DNA:hypermethylation: : PMID:18757082|REF_RGD_ID:10054392 11961567 CABIN1 calcineurin binding protein 1 gene DOID:5419 schizophrenia ISO RGD:732324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11961567 CABIN1 calcineurin binding protein 1 gene DOID:630 genetic disease ISO RGD:732324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11961567 CABIN1 calcineurin binding protein 1 gene DOID:9002457 Experimental Arthritis ISO RGD:732324 D RGD:9068941 20200609 RGD PMID:22275266|REF_RGD_ID:10054391 11961567 CABIN1 calcineurin binding protein 1 gene DOID:9003936 Cardiomegaly ISO RGD:732324 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11248077 11961625 TOMM6 translocase of outer mitochondrial membrane 6 gene DOID:0050444 infantile Refsum disease ISO RGD:2300132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11961625 TOMM6 translocase of outer mitochondrial membrane 6 gene DOID:630 genetic disease ISO RGD:2300132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11961625 TOMM6 translocase of outer mitochondrial membrane 6 gene DOID:905 Zellweger syndrome ISO RGD:2300132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11961679 ARFGEF3 ARFGEF family member 3 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1320499 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 11961679 ARFGEF3 ARFGEF family member 3 gene DOID:543 dystonia ISO RGD:1320499 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868|PMID:33098801 11961679 ARFGEF3 ARFGEF family member 3 gene DOID:630 genetic disease ISO RGD:1320499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11961679 ARFGEF3 ARFGEF family member 3 gene DOID:9007956 Febrile Seizures ISO RGD:1320499 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Febrile seizures PMID:25741868 11961720 ARPC4 actin related protein 2/3 complex subunit 4 gene DOID:14250 Down syndrome ISO RGD:1320803 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (human) PMID:12054546|REF_RGD_ID:11570562 11961720 ARPC4 actin related protein 2/3 complex subunit 4 gene DOID:2843 long QT syndrome ISO RGD:1320803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11961720 ARPC4 actin related protein 2/3 complex subunit 4 gene DOID:630 genetic disease ISO RGD:1320803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:35047857 11961720 ARPC4 actin related protein 2/3 complex subunit 4 gene DOID:8893 psoriasis ISO RGD:1320804 D RGD:9068941 20220825 MouseDO OMIM:177900 | OMIM:601454 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106 11961720 ARPC4 actin related protein 2/3 complex subunit 4 gene DOID:9000955 Acute Otitis Media ISO RGD:8803523 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:mucosa of middle ear PMID:26711468|REF_RGD_ID:11553828 11961720 ARPC4 actin related protein 2/3 complex subunit 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11961720 ARPC4 actin related protein 2/3 complex subunit 4 gene DOID:9005464 Developmental Delay, Language Impairment, and Ocular Abnormalities ISO RGD:1320803 D RGD:7240710 20221214 OMIM 11961720 ARPC4 actin related protein 2/3 complex subunit 4 gene DOID:9005464 Developmental Delay, Language Impairment, and Ocular Abnormalities ISO RGD:1320803 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental delay, language impairment, and ocular abnormalities PMID:35047857 11961720 ARPC4 actin related protein 2/3 complex subunit 4 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1320803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 11961737 USB1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606230 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11961737 USB1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:0060551 poikiloderma with neutropenia ISO RGD:1606230 D RGD:7240710 20190315 OMIM 11961737 USB1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:0060551 poikiloderma with neutropenia ISO RGD:1606230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Poikiloderma with neutropenia PMID:11737690|PMID:16199547|PMID:18925663|PMID:20004881|PMID:20503306|PMID:20618321|PMID:20817924|PMID:21271650|PMID:21872685|PMID:21967010|PMID:23190533|PMID:25044170|PMID:25741868|PMID:27247962|PMID:27612988|PMID:28492532|PMID:29072891|PMID:29770900|PMID:29982244|PMID:32897901|PMID:34179048 11961737 USB1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606230 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11961737 USB1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606230 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11961737 USB1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:630 genetic disease ISO RGD:1606230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11961751 EIPR1 EARP complex and GARP complex interacting protein 1 gene DOID:303 substance-related disorder ISO RGD:1314080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11961780 SP4 Sp4 transcription factor gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:731794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 11961780 SP4 Sp4 transcription factor gene DOID:12930 dilated cardiomyopathy ISO RGD:731794 D RGD:9068941 20200609 RGD PMID:15972724|REF_RGD_ID:1581308 11961780 SP4 Sp4 transcription factor gene DOID:1682 congenital heart disease ISO RGD:731794 D RGD:9068941 20200609 RGD PMID:15907824|REF_RGD_ID:1581309 11961780 SP4 Sp4 transcription factor gene DOID:3312 bipolar disorder ISO RGD:731794 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19401786 11961780 SP4 Sp4 transcription factor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11961780 SP4 Sp4 transcription factor gene DOID:5419 schizophrenia ISO RGD:11335 D RGD:9068941 20220825 MouseDO OMIM:181500 11961780 SP4 Sp4 transcription factor gene DOID:5419 schizophrenia ISO RGD:731794 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19401786 11961780 SP4 Sp4 transcription factor gene DOID:630 genetic disease ISO RGD:731794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11961780 SP4 Sp4 transcription factor gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:731794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 11961780 SP4 Sp4 transcription factor gene DOID:9007925 Sudden Cardiac Death ISO RGD:11335 D RGD:9068941 20200609 RGD PMID:11007485|REF_RGD_ID:1580019 11961780 SP4 Sp4 transcription factor gene DOID:9562 primary ciliary dyskinesia ISO RGD:731794 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 11961796 MRM2 mitochondrial rRNA methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1314273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11961796 MRM2 mitochondrial rRNA methyltransferase 2 gene DOID:9005661 Mitochondrial DNA Depletion Syndrome 17 ISO RGD:1314273 D RGD:7240710 20190911 OMIM 11961796 MRM2 mitochondrial rRNA methyltransferase 2 gene DOID:9005661 Mitochondrial DNA Depletion Syndrome 17 ISO RGD:1314273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 17 PMID:28973171 11961809 DELE1 DAP3 binding cell death enhancer 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11961809 DELE1 DAP3 binding cell death enhancer 1 gene DOID:630 genetic disease ISO RGD:1353765 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11961809 DELE1 DAP3 binding cell death enhancer 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11961809 DELE1 DAP3 binding cell death enhancer 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11961837 EPHB3 EPH receptor B3 gene DOID:0111546 Currarino syndrome ISO RGD:1313727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11961837 EPHB3 EPH receptor B3 gene DOID:12365 malaria ISO RGD:1305602 D RGD:9068941 20210625 RGD PMID:25784101|REF_RGD_ID:127285023 11961837 EPHB3 EPH receptor B3 gene DOID:630 genetic disease ISO RGD:1313727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11961856 CHMP4C charged multivesicular body protein 4C gene DOID:630 genetic disease ISO RGD:1606751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11961856 CHMP4C charged multivesicular body protein 4C gene DOID:9002762 Ovarian Neoplasms ISO RGD:1606751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23535730|PMID:31043753 11961865 LGR5 leucine rich repeat containing G protein-coupled receptor 5 gene DOID:0060604 ankyloglossia ISO RGD:1550798 D RGD:9068941 20220825 MouseDO OMIM:106280 11961865 LGR5 leucine rich repeat containing G protein-coupled receptor 5 gene DOID:630 genetic disease ISO RGD:1605118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11961865 LGR5 leucine rich repeat containing G protein-coupled receptor 5 gene DOID:9002928 Colonic Neoplasms ISO RGD:1605118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21188121 11961865 LGR5 leucine rich repeat containing G protein-coupled receptor 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1605118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25280562 11961900 TNKS2 tankyrase 2 gene DOID:630 genetic disease ISO RGD:1312811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11961940 MGA MAX dimerization protein MGA gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1351170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11961940 MGA MAX dimerization protein MGA gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1351170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413735 11961940 MGA MAX dimerization protein MGA gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1351170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 11961940 MGA MAX dimerization protein MGA gene DOID:2717 Bloom syndrome ISO RGD:1351170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11961940 MGA MAX dimerization protein MGA gene DOID:630 genetic disease ISO RGD:1351170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11961940 MGA MAX dimerization protein MGA gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11961940 MGA MAX dimerization protein MGA gene DOID:9256 colorectal cancer ISO RGD:1351170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11961940 MGA MAX dimerization protein MGA gene DOID:9538 multiple myeloma ISO RGD:1351170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11962006 PPP2R5E protein phosphatase 2 regulatory subunit B'epsilon gene DOID:224 transient cerebral ischemia treatment ISO RGD:1305657 D RGD:9068941 20230105 RGD PMID:30712471|REF_RGD_ID:155791663 11962006 PPP2R5E protein phosphatase 2 regulatory subunit B'epsilon gene DOID:630 genetic disease ISO RGD:1313814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962006 PPP2R5E protein phosphatase 2 regulatory subunit B'epsilon gene DOID:9003882 Chromosomal Instability ISO RGD:1313814 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25772433 11962006 PPP2R5E protein phosphatase 2 regulatory subunit B'epsilon gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1313814 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25772433 11962028 RRP36 ribosomal RNA processing 36 gene DOID:0050444 infantile Refsum disease ISO RGD:1317478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11962028 RRP36 ribosomal RNA processing 36 gene DOID:630 genetic disease ISO RGD:1317478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962028 RRP36 ribosomal RNA processing 36 gene DOID:905 Zellweger syndrome ISO RGD:1317478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11962038 TMEM60 transmembrane protein 60 gene DOID:0080600 COVID-19 ISO RGD:1318999 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11962038 TMEM60 transmembrane protein 60 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11962038 TMEM60 transmembrane protein 60 gene DOID:630 genetic disease ISO RGD:1318999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962038 TMEM60 transmembrane protein 60 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1318999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 11962044 TEX30 testis expressed 30 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1605014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:28492532 11962044 TEX30 testis expressed 30 gene DOID:14701 propionic acidemia ISO RGD:1605014 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 11962044 TEX30 testis expressed 30 gene DOID:630 genetic disease ISO RGD:1605014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962044 TEX30 testis expressed 30 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1605014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11962044 TEX30 testis expressed 30 gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:1605014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532 11962070 CHST9 carbohydrate sulfotransferase 9 gene DOID:1059 intellectual disability ISO RGD:1316417 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11962070 CHST9 carbohydrate sulfotransferase 9 gene DOID:630 genetic disease ISO RGD:1316417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962095 EPM2A EPM2A glucan phosphatase, laforin gene DOID:1059 intellectual disability ISO RGD:736258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26467025|PMID:28492532 11962095 EPM2A EPM2A glucan phosphatase, laforin gene DOID:1826 epilepsy ISO RGD:736258 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26467025|PMID:28492532 11962095 EPM2A EPM2A glucan phosphatase, laforin gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:736258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:29358611 11962095 EPM2A EPM2A glucan phosphatase, laforin gene DOID:3534 Lafora disease ISO RGD:736258 D RGD:7240710 20180130 OMIM 11962095 EPM2A EPM2A glucan phosphatase, laforin gene DOID:3534 Lafora disease ISO RGD:736258 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Lafora disease PMID:10932264|PMID:11175283|PMID:11735300|PMID:11739371|PMID:12019207|PMID:14532330|PMID:14706656|PMID:14722920|PMID:16021330|PMID:16134145|PMID:16199547|PMID:17010495|PMID:17389303|PMID:19403557|PMID:20738377|PMID:21623095|PMID:25246353|PMID:25544560|PMID:25741868|PMID:26467025|PMID:27843123|PMID:28492532|PMID:33773408|PMID:34755096|PMID:9771710|PMID:9931343 11962095 EPM2A EPM2A glucan phosphatase, laforin gene DOID:630 genetic disease ISO RGD:736258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10932264|PMID:11175283|PMID:11735300|PMID:12019207|PMID:14532330|PMID:14706656|PMID:16021330|PMID:17010495|PMID:17389303|PMID:17576681|PMID:18414213|PMID:20738377|PMID:21623095|PMID:21652633|PMID:22618127|PMID:25246353|PMID:25741868|PMID:26467025|PMID:27843123|PMID:28492532|PMID:30947044|PMID:31493945|PMID:33773408|PMID:34755096|PMID:9536098|PMID:9771710|PMID:9931343 11962095 EPM2A EPM2A glucan phosphatase, laforin gene DOID:83 cataract ISO RGD:736258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract PMID:25741868|PMID:28492532 11962095 EPM2A EPM2A glucan phosphatase, laforin gene DOID:891 progressive myoclonus epilepsy ISO RGD:736258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myoclonic epilepsy, progressive, X-linked | ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:10932264|PMID:11175283|PMID:11735300|PMID:12019207|PMID:14532330|PMID:14706656|PMID:14722920|PMID:16021330|PMID:16134145|PMID:16199547|PMID:16311711|PMID:17010495|PMID:17389303|PMID:17509003|PMID:17576681|PMID:18029386|PMID:18311786|PMID:18414213|PMID:19403557|PMID:20738377|PMID:21623095|PMID:25246353|PMID:25544560|PMID:25741868|PMID:26467025|PMID:26493215|PMID:27843123|PMID:28492532|PMID:28800070|PMID:28934672|PMID:30041081|PMID:31493945|PMID:9536098|PMID:9771710|PMID:9931343 11962095 EPM2A EPM2A glucan phosphatase, laforin gene DOID:891 progressive myoclonus epilepsy ISO RGD:736258 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myoclonic epilepsy, progressive, X-linked | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:10932264|PMID:11175283|PMID:11735300|PMID:12019207|PMID:14706656|PMID:14722920|PMID:16021330|PMID:16134145|PMID:16199547|PMID:17010495|PMID:17389303|PMID:17576681|PMID:18311786|PMID:18414213|PMID:20738377|PMID:21623095|PMID:25246353|PMID:25741868|PMID:26467025|PMID:27843123|PMID:28492532|PMID:30041081|PMID:9536098|PMID:9771710|PMID:9931343 11962095 EPM2A EPM2A glucan phosphatase, laforin gene DOID:891 progressive myoclonus epilepsy ISO RGD:736258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:10932264|PMID:11175283|PMID:11735300|PMID:11739371|PMID:12019207|PMID:14532330|PMID:14706656|PMID:14722920|PMID:16021330|PMID:16134145|PMID:16199547|PMID:16311711|PMID:17010495|PMID:17389303|PMID:17576681|PMID:18029386|PMID:18311786|PMID:18414213|PMID:19403557|PMID:20738377|PMID:21623095|PMID:21652633|PMID:25246353|PMID:25544560|PMID:25741868|PMID:26467025|PMID:26493215|PMID:27574708|PMID:27843123|PMID:28492532|PMID:28800070|PMID:28934672|PMID:30041081|PMID:30947044|PMID:31227012|PMID:31493945|PMID:32342326|PMID:34117373|PMID:9536098|PMID:9771710|PMID:9931343 11962095 EPM2A EPM2A glucan phosphatase, laforin gene DOID:891 progressive myoclonus epilepsy ISO RGD:736258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:10932264|PMID:11175283|PMID:11735300|PMID:11739371|PMID:12019207|PMID:14532330|PMID:14706656|PMID:14722920|PMID:16021330|PMID:16134145|PMID:16199547|PMID:16311711|PMID:17010495|PMID:17389303|PMID:17509003|PMID:17576681|PMID:18029386|PMID:18311786|PMID:18414213|PMID:19403557|PMID:20738377|PMID:21623095|PMID:21652633|PMID:25246353|PMID:25544560|PMID:25741868|PMID:26467025|PMID:26493215|PMID:27574708|PMID:27843123|PMID:28492532|PMID:28800070|PMID:28934672|PMID:30041081|PMID:30947044|PMID:31227012|PMID:31493945|PMID:32342326|PMID:33773408|PMID:34117373|PMID:34755096|PMID:9536098|PMID:9771710|PMID:9931343 11962095 EPM2A EPM2A glucan phosphatase, laforin gene DOID:9006534 Nervous System Malformations ISO RGD:736258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11962104 STATH statherin gene DOID:12849 autistic disorder ISO RGD:1352585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19367726 11962104 STATH statherin gene DOID:630 genetic disease ISO RGD:1352585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962104 STATH statherin gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1352585 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11962120 CLEC4E C-type lectin domain family 4 member E gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1344050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11962120 CLEC4E C-type lectin domain family 4 member E gene DOID:0060758 immunodeficiency with hyper-IgM type 2 ISO RGD:1344050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 PMID:16964591|PMID:28492532 11962120 CLEC4E C-type lectin domain family 4 member E gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1344050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11962120 CLEC4E C-type lectin domain family 4 member E gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1344050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11962120 CLEC4E C-type lectin domain family 4 member E gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1344050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11962120 CLEC4E C-type lectin domain family 4 member E gene DOID:0111621 Temtamy syndrome ISO RGD:1344050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11962120 CLEC4E C-type lectin domain family 4 member E gene DOID:630 genetic disease ISO RGD:1344050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962120 CLEC4E C-type lectin domain family 4 member E gene DOID:850 lung disease ISO RGD:1344050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21602193 11962120 CLEC4E C-type lectin domain family 4 member E gene DOID:9000998 Brain Injuries ISO RGD:1344050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 11962120 CLEC4E C-type lectin domain family 4 member E gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1344050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11962137 EREG epiregulin gene DOID:0050598 extrapulmonary tuberculosis susceptibility ISO RGD:730898 D RGD:9068941 20201008 RGD DNA:SNP:exon 4: (rs2367707) (human) PMID:30634928|REF_RGD_ID:39457687 11962137 EREG epiregulin gene DOID:13270 erythropoietic protoporphyria ISO RGD:730898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19267999 11962137 EREG epiregulin gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:730898 D RGD:9068941 20201008 RGD DNA:SNP:exon 4: (rs2367707) (human) PMID:30634928|REF_RGD_ID:39457687 11962137 EREG epiregulin gene DOID:399 tuberculosis susceptibility ISO RGD:730898 D RGD:9068941 20201008 RGD DNA:SNP:intron: (rs7675690) (human) PMID:22170233|REF_RGD_ID:39457686 11962137 EREG epiregulin gene DOID:630 genetic disease ISO RGD:730898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962137 EREG epiregulin gene DOID:684 hepatocellular carcinoma ISO RGD:730898 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35776891 11962137 EREG epiregulin gene DOID:869 cholesteatoma ISO RGD:730898 D RGD:9068941 20201008 RGD mRNA:increased expression:external acoustic meatus (human) PMID:24256036|REF_RGD_ID:39457690 11962137 EREG epiregulin gene DOID:9000099 Experimental Colitis ISO RGD:730899 D RGD:9068941 20201008 RGD protein:increased expression:colonic mucosa (mouse) PMID:20498653|REF_RGD_ID:39457688 11962137 EREG epiregulin gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:730898 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11962137 EREG epiregulin gene DOID:9002762 Ovarian Neoplasms ISO RGD:730898 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15313392 11962146 PARS2 prolyl-tRNA synthetase 2, mitochondrial gene DOID:0112211 developmental and epileptic encephalopathy 75 ISO RGD:1603670 D RGD:7240710 20190612 OMIM 11962146 PARS2 prolyl-tRNA synthetase 2, mitochondrial gene DOID:0112211 developmental and epileptic encephalopathy 75 ISO RGD:1603670 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 75 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75 PMID:22237560|PMID:25629079|PMID:25705216|PMID:25741868|PMID:27290639|PMID:27348859|PMID:28077841|PMID:28492532|PMID:29410512|PMID:29915213|PMID:30237576|PMID:31130284|PMID:31487502|PMID:32071833|PMID:32514400|PMID:32533790 11962146 PARS2 prolyl-tRNA synthetase 2, mitochondrial gene DOID:2661 myoepithelioma ISO RGD:1603670 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11962146 PARS2 prolyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1603670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10447505|PMID:25629079|PMID:25705216|PMID:25741868|PMID:27290639|PMID:27348859|PMID:28492532|PMID:29410512|PMID:29915213|PMID:30237576|PMID:31487502|PMID:32071833|PMID:32514400 11962152 SFTPD surfactant protein D gene DOID:0050127 sinusitis ISO RGD:735702 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;mRNA:increased expression:respiratory system mucosa PMID:17599561|REF_RGD_ID:4143506 11962152 SFTPD surfactant protein D gene DOID:0060071 pre-malignant neoplasm ISO RGD:735702 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:18779194|REF_RGD_ID:4143498 11962152 SFTPD surfactant protein D gene DOID:0080599 Coronavirus infectious disease ISO RGD:3667 D RGD:9068941 20200609 RGD Severe Acute Respiratory Syndrome;protein:increased expression:lung PMID:19741068|REF_RGD_ID:4143520 11962152 SFTPD surfactant protein D gene DOID:11335 sarcoidosis ISO RGD:735702 D RGD:9068941 20200609 RGD associated with Uveitis;protein:increased expression:serum PMID:20151281|REF_RGD_ID:4143491 11962152 SFTPD surfactant protein D gene DOID:11339 pneumocystosis ISO RGD:11287 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11385364|REF_RGD_ID:4143431 11962152 SFTPD surfactant protein D gene DOID:11394 adult respiratory distress syndrome ISO RGD:735702 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:10588595|REF_RGD_ID:4143436 11962152 SFTPD surfactant protein D gene DOID:11650 bronchopulmonary dysplasia ISO RGD:735702 D RGD:9068941 20200609 RGD PMID:17264398|REF_RGD_ID:4143384 11962152 SFTPD surfactant protein D gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:735702 D RGD:9068941 20200609 RGD associated with Acquired Immunodeficiency Syndrome;protein:increased expression:lung PMID:16849999|REF_RGD_ID:4143461 11962152 SFTPD surfactant protein D gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:735702 D RGD:9068941 20200609 RGD protein:increased expression:blood, lung PMID:19046553|REF_RGD_ID:4143497 11962152 SFTPD surfactant protein D gene DOID:12716 newborn respiratory distress syndrome ISO RGD:3667 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11504697|REF_RGD_ID:4143428 11962152 SFTPD surfactant protein D gene DOID:12716 newborn respiratory distress syndrome susceptibility ISO RGD:735702 D RGD:9068941 20200609 RGD DNA:SNP: :p.A160T (human) PMID:17524024|REF_RGD_ID:4143507 11962152 SFTPD surfactant protein D gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:735702 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:10194154|REF_RGD_ID:4143439 11962152 SFTPD surfactant protein D gene DOID:1273 respiratory syncytial virus infectious disease susceptibility ISO RGD:735702 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.M11T, p.A160T (human PMID:19287351|REF_RGD_ID:4143495 11962152 SFTPD surfactant protein D gene DOID:1485 cystic fibrosis ISO RGD:735702 D RGD:9068941 20200609 RGD protein:decreased expression, altered degradation:lung PMID:18211966|REF_RGD_ID:4143502 11962152 SFTPD surfactant protein D gene DOID:2799 bronchiolitis obliterans ISO RGD:735702 D RGD:9068941 20200609 RGD PMID:18347569|REF_RGD_ID:4143500 11962152 SFTPD surfactant protein D gene DOID:2841 asthma ISO RGD:11287 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11472974|REF_RGD_ID:4143465 11962152 SFTPD surfactant protein D gene DOID:2841 asthma ISO RGD:3667 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:18802356|REF_RGD_ID:4143516 11962152 SFTPD surfactant protein D gene DOID:2841 asthma ISO RGD:735702 D RGD:9068941 20200609 RGD PMID:16839409|REF_RGD_ID:4143508 11962152 SFTPD surfactant protein D gene DOID:2841 asthma ISO RGD:735702 D RGD:9068941 20200609 RGD associated with Bronchitis;protein:increased expression:lung PMID:18266831|REF_RGD_ID:4143517 11962152 SFTPD surfactant protein D gene DOID:2841 asthma ISO RGD:735702 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:16629790|REF_RGD_ID:4143462 11962152 SFTPD surfactant protein D gene DOID:2914 immune system disease ISO RGD:11287 D RGD:9068941 20200609 RGD associated with Pneumonia, Pneumocystis carinii;protein:increased expression, increased nitrosylation:lung PMID:19201882|REF_RGD_ID:4143286 11962152 SFTPD surfactant protein D gene DOID:3082 interstitial lung disease ISO RGD:735702 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;protein:increased expression:serum PMID:19286849|REF_RGD_ID:4143496 11962152 SFTPD surfactant protein D gene DOID:3082 interstitial lung disease ISO RGD:735702 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9216212|REF_RGD_ID:4143449 11962152 SFTPD surfactant protein D gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28166215 11962152 SFTPD surfactant protein D gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735702 D RGD:9068941 20200609 RGD PMID:18310480|REF_RGD_ID:4143501 11962152 SFTPD surfactant protein D gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735702 D RGD:9068941 20200609 RGD DNA:SNP: :p.A160T (human) PMID:19797132|REF_RGD_ID:4143281 11962152 SFTPD surfactant protein D gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:735702 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20075511|REF_RGD_ID:4143492 11962152 SFTPD surfactant protein D gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:735702 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:20448057|REF_RGD_ID:4143487 11962152 SFTPD surfactant protein D gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735702 D RGD:9068941 20200609 RGD PMID:20401612|REF_RGD_ID:4143490 11962152 SFTPD surfactant protein D gene DOID:4483 rhinitis susceptibility ISO RGD:735702 D RGD:9068941 20200609 RGD associated with Hypersensitivity;DNA:polymorphism: :p.M11T (human) PMID:19493231|REF_RGD_ID:4143494 11962152 SFTPD surfactant protein D gene DOID:552 pneumonia ISO RGD:11287 D RGD:9068941 20200609 RGD PMID:15967375|PMID:17925426|REF_RGD_ID:4143394|REF_RGD_ID:4143504 11962152 SFTPD surfactant protein D gene DOID:552 pneumonia ISO RGD:735702 D RGD:9068941 20200609 RGD PMID:17925426|REF_RGD_ID:4143504 11962152 SFTPD surfactant protein D gene DOID:552 pneumonia ISO RGD:735702 D RGD:9068941 20200609 RGD associated with Bronchitis;protein:decreased expression:lung PMID:18266831|REF_RGD_ID:4143517 11962152 SFTPD surfactant protein D gene DOID:630 genetic disease ISO RGD:735702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962152 SFTPD surfactant protein D gene DOID:850 lung disease ISO RGD:11287 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:20639460|REF_RGD_ID:4143256 11962152 SFTPD surfactant protein D gene DOID:850 lung disease ISO RGD:3667 D RGD:9068941 20200609 RGD Lung Injury PMID:17616020|REF_RGD_ID:4143505 11962152 SFTPD surfactant protein D gene DOID:850 lung disease ISO RGD:735702 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:17974096|REF_RGD_ID:4143503 11962152 SFTPD surfactant protein D gene DOID:850 lung disease disease_progression ISO RGD:735702 D RGD:9068941 20200609 RGD Acute Lung Injury;protein:increased expression:plasma PMID:20435656|REF_RGD_ID:4143488 11962152 SFTPD surfactant protein D gene DOID:874 bacterial pneumonia ISO RGD:3667 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:12169586|REF_RGD_ID:4143464 11962152 SFTPD surfactant protein D gene DOID:874 bacterial pneumonia ISO RGD:735702 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;protein:decreased expression:lung PMID:15271694|REF_RGD_ID:4143403 11962152 SFTPD surfactant protein D gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:11287 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:14748931|REF_RGD_ID:4143407 11962152 SFTPD surfactant protein D gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:3667 D RGD:9068941 20200609 RGD PMID:12882759|REF_RGD_ID:4144051 11962152 SFTPD surfactant protein D gene DOID:9001488 Human Influenza ISO RGD:11287 D RGD:9068941 20200609 RGD PMID:16787926|REF_RGD_ID:4143518 11962152 SFTPD surfactant protein D gene DOID:9001488 Human Influenza ISO RGD:3667 D RGD:9068941 20200609 RGD PMID:16787926|REF_RGD_ID:4143518 11962152 SFTPD surfactant protein D gene DOID:9002106 Pneumococcal Pneumonia severity ISO RGD:11287 D RGD:9068941 20200609 RGD PMID:16255775|REF_RGD_ID:4143519 11962152 SFTPD surfactant protein D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11962152 SFTPD surfactant protein D gene DOID:9004610 Acute Lung Injury ISO RGD:735702 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30060251 11962152 SFTPD surfactant protein D gene DOID:9005172 Lung Neoplasms ISO RGD:735702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14522914|PMID:15136449 11962152 SFTPD surfactant protein D gene DOID:9005724 Fungal Lung Diseases ISO RGD:735702 D RGD:9068941 20200609 RGD PMID:20413160|REF_RGD_ID:4143489 11962152 SFTPD surfactant protein D gene DOID:9005724 Fungal Lung Diseases susceptibility ISO RGD:11287 D RGD:9068941 20200609 RGD PMID:20413160|REF_RGD_ID:4143489 11962152 SFTPD surfactant protein D gene DOID:9007480 Hyperoxia ISO RGD:3667 D RGD:9068941 20200609 RGD PMID:18635887|REF_RGD_ID:4143499 11962152 SFTPD surfactant protein D gene DOID:9007480 Hyperoxia ISO RGD:3667 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:11472975|REF_RGD_ID:4143429 11962152 SFTPD surfactant protein D gene DOID:9007480 Hyperoxia resistance ISO RGD:11287 D RGD:9068941 20200609 RGD PMID:17158597|REF_RGD_ID:4143385 11962152 SFTPD surfactant protein D gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:735702 D RGD:9068941 20200609 RGD PMID:20459699|REF_RGD_ID:4143486 11962152 SFTPD surfactant protein D gene DOID:9074 systemic lupus erythematosus ISO RGD:735702 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19833760|REF_RGD_ID:4143493 11962163 ZGPAT zinc finger CCCH-type and G-patch domain containing gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 11962163 ZGPAT zinc finger CCCH-type and G-patch domain containing gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1606771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 11962163 ZGPAT zinc finger CCCH-type and G-patch domain containing gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1606771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11962163 ZGPAT zinc finger CCCH-type and G-patch domain containing gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1606771 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 11962163 ZGPAT zinc finger CCCH-type and G-patch domain containing gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 11962163 ZGPAT zinc finger CCCH-type and G-patch domain containing gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1606771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 11962163 ZGPAT zinc finger CCCH-type and G-patch domain containing gene DOID:630 genetic disease ISO RGD:1606771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962205 TEC tec protein tyrosine kinase gene DOID:630 genetic disease ISO RGD:732236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962235 CD7 CD7 molecule gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1320672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 11962235 CD7 CD7 molecule gene DOID:630 genetic disease ISO RGD:1320672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962235 CD7 CD7 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11962235 CD7 CD7 molecule gene DOID:9003281 Spontaneous Abortions ISO RGD:1320672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11962247 PDCD4 programmed cell death 4 gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:732159 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 11962247 PDCD4 programmed cell death 4 gene DOID:0110447 dilated cardiomyopathy 1DD ISO RGD:732159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:28492532 11962247 PDCD4 programmed cell death 4 gene DOID:630 genetic disease ISO RGD:732159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962247 PDCD4 programmed cell death 4 gene DOID:8923 skin melanoma disease_progression ISO RGD:732159 D RGD:9068941 20220630 RGD mRNA:decreased expression:skin (human) PMID:26150475|REF_RGD_ID:11342032 11962247 PDCD4 programmed cell death 4 gene DOID:9001820 Pulmonary Arterial Hypertension treatment ISO RGD:620816 D RGD:9068941 20230225 RGD PMID:30240970|REF_RGD_ID:156430315 11962247 PDCD4 programmed cell death 4 gene DOID:9002056 Arterial Injury ISO RGD:620816 D RGD:9068941 20200609 RGD PMID:20357187|REF_RGD_ID:9589087 11962247 PDCD4 programmed cell death 4 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732159 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23272133 11962247 PDCD4 programmed cell death 4 gene DOID:9005172 Lung Neoplasms ISO RGD:732159 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27323401 11962247 PDCD4 programmed cell death 4 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732159 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27323401|PMID:27344173|PMID:28881718 11962270 OXCT1 3-oxoacid CoA-transferase 1 gene DOID:11476 osteoporosis ISO RGD:1312252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 11962270 OXCT1 3-oxoacid CoA-transferase 1 gene DOID:2978 carbohydrate metabolic disorder ISO RGD:1312252 D RGD:9068941 20200609 RGD protein:decreased activity:multiple (human) PMID:8844009|REF_RGD_ID:2326201 11962270 OXCT1 3-oxoacid CoA-transferase 1 gene DOID:630 genetic disease ISO RGD:1312252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962270 OXCT1 3-oxoacid CoA-transferase 1 gene DOID:9001530 Succinyl-CoA:3-oxoacid CoA transferase deficiency ISO RGD:1312252 D RGD:7240710 20180130 OMIM 11962270 OXCT1 3-oxoacid CoA-transferase 1 gene DOID:9001530 Succinyl-CoA:3-oxoacid CoA transferase deficiency ISO RGD:1312252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3-Oxoacid CoA Transferase Deficiency | ClinVar Annotator: match by term: Succinyl-CoA:3-oxoacid CoA transferase deficiency PMID:10964512|PMID:1405472|PMID:15669687|PMID:16199547|PMID:17576681|PMID:17706444|PMID:20818383|PMID:21296660|PMID:23281106|PMID:23420214|PMID:23757202|PMID:25741868|PMID:28488182|PMID:28492532|PMID:31216074|PMID:8751852|PMID:9392403|PMID:9536098|PMID:9671268 11962270 OXCT1 3-oxoacid CoA-transferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11962270 OXCT1 3-oxoacid CoA-transferase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1584008 D RGD:9068941 20200609 RGD protein:decreased activity:heart, mitochondrion (rat) PMID:3548709|REF_RGD_ID:2326100 11962270 OXCT1 3-oxoacid CoA-transferase 1 gene DOID:9007730 Burns ISO RGD:1584008 D RGD:9068941 20200609 RGD protein:increased expression:ileum (rat) PMID:15449568|REF_RGD_ID:2326198 11962270 OXCT1 3-oxoacid CoA-transferase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1584008 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression, decreased activity:pancreatic islets (rat) PMID:20460097|REF_RGD_ID:2326185 11962270 OXCT1 3-oxoacid CoA-transferase 1 gene DOID:9970 obesity ISO RGD:1584008 D RGD:9068941 20200609 RGD mRNA:decreased expression:thalamus (rat) PMID:19219059|REF_RGD_ID:2326191 11962291 RALGAPA2 Ral GTPase activating protein catalytic subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1343955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962344 DISP3 dispatched RND transporter family member 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1603018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11962344 DISP3 dispatched RND transporter family member 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603018 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11962344 DISP3 dispatched RND transporter family member 3 gene DOID:630 genetic disease ISO RGD:1603018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962344 DISP3 dispatched RND transporter family member 3 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1603018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 11962373 NDEL1 nudE neurodevelopment protein 1 like 1 gene DOID:5419 schizophrenia ISO RGD:1352165 D RGD:9068941 20200609 RGD mRNA:decreased expression:hipocampus,dorsolateral prefrontal cortex: PMID:16510495|REF_RGD_ID:12790585 11962373 NDEL1 nudE neurodevelopment protein 1 like 1 gene DOID:630 genetic disease ISO RGD:1352165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962373 NDEL1 nudE neurodevelopment protein 1 like 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1352165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11962388 NT5M 5',3'-nucleotidase, mitochondrial gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1320058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 11962388 NT5M 5',3'-nucleotidase, mitochondrial gene DOID:0050777 Joubert syndrome ISO RGD:1320058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11962388 NT5M 5',3'-nucleotidase, mitochondrial gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1320058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 11962388 NT5M 5',3'-nucleotidase, mitochondrial gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1320058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 11962388 NT5M 5',3'-nucleotidase, mitochondrial gene DOID:12849 autistic disorder ISO RGD:1320058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11962388 NT5M 5',3'-nucleotidase, mitochondrial gene DOID:630 genetic disease ISO RGD:1320058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962397 CIART circadian associated repressor of transcription gene DOID:0111940 immunodeficiency 42 ISO RGD:1347816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11962397 CIART circadian associated repressor of transcription gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1347816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11962397 CIART circadian associated repressor of transcription gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1347816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11962397 CIART circadian associated repressor of transcription gene DOID:1540 parathyroid carcinoma ISO RGD:1347816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11962397 CIART circadian associated repressor of transcription gene DOID:5812 MHC class II deficiency ISO RGD:1347816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11962397 CIART circadian associated repressor of transcription gene DOID:630 genetic disease ISO RGD:1347816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962397 CIART circadian associated repressor of transcription gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11962417 EDN1 endothelin 1 gene DOID:0050152 aspiration pneumonia ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (rat) PMID:19262391|REF_RGD_ID:4145069 11962417 EDN1 endothelin 1 gene DOID:0050700 cardiomyopathy ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11589785 11962417 EDN1 endothelin 1 gene DOID:0050758 metabolic acidosis treatment ISO RGD:2532 D RGD:9068941 20200609 RGD PMID:17255858|REF_RGD_ID:1625312 11962417 EDN1 endothelin 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:myocardium (rat) PMID:19358946|REF_RGD_ID:4145067 11962417 EDN1 endothelin 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:730848 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.K198N (human) PMID:18580062|REF_RGD_ID:4145075 11962417 EDN1 endothelin 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:17198911|REF_RGD_ID:4144901 11962417 EDN1 endothelin 1 gene DOID:0060224 atrial fibrillation ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762801 11962417 EDN1 endothelin 1 gene DOID:0060224 atrial fibrillation severity ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:22669310|REF_RGD_ID:8661797 11962417 EDN1 endothelin 1 gene DOID:0070355 overactive bladder syndrome ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15371886 11962417 EDN1 endothelin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:20005906|REF_RGD_ID:8661800 11962417 EDN1 endothelin 1 gene DOID:10591 pre-eclampsia ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25230003 11962417 EDN1 endothelin 1 gene DOID:1070 primary open angle glaucoma ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:22406080|REF_RGD_ID:8661676 11962417 EDN1 endothelin 1 gene DOID:1074 kidney failure ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7967349 11962417 EDN1 endothelin 1 gene DOID:1074 kidney failure onset ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:20888384|REF_RGD_ID:4144130 11962417 EDN1 endothelin 1 gene DOID:10762 portal hypertension ISO RGD:2532 D RGD:9068941 20200609 RGD PMID:17214938|REF_RGD_ID:4892595 11962417 EDN1 endothelin 1 gene DOID:10763 hypertension ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (rat) PMID:20733093|REF_RGD_ID:4144829 11962417 EDN1 endothelin 1 gene DOID:10763 hypertension ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10474778|PMID:10669576|PMID:11847185|PMID:12149661|PMID:12425201|PMID:12600921|PMID:15188945|PMID:15302986|PMID:15314687|PMID:15834289|PMID:17130675|PMID:7721406|PMID:8152482|PMID:8440307 11962417 EDN1 endothelin 1 gene DOID:10763 hypertension ISO RGD:730848 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.K198N (human) PMID:17444275|REF_RGD_ID:1625065 11962417 EDN1 endothelin 1 gene DOID:10763 hypertension ISO RGD:730848 D RGD:9068941 20200609 RGD associated with Diabetic Nephropathies;protein:increased secretion:plasma PMID:18496905|REF_RGD_ID:2313283 11962417 EDN1 endothelin 1 gene DOID:10763 hypertension ISO RGD:730848 D RGD:9068941 20200609 RGD human gene in a rat model PMID:11078355|REF_RGD_ID:8661804 11962417 EDN1 endothelin 1 gene DOID:10941 intracranial aneurysm ISO RGD:730848 D RGD:9068941 20230202 RGD protein:increased expression:serum PMID:32602008|REF_RGD_ID:155882593 11962417 EDN1 endothelin 1 gene DOID:10952 nephritis treatment ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:multiple (rat) PMID:9176845|REF_RGD_ID:8662324 11962417 EDN1 endothelin 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (rat) PMID:1618274|REF_RGD_ID:4145073 11962417 EDN1 endothelin 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16625121 11962417 EDN1 endothelin 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:8256914|REF_RGD_ID:4145079 11962417 EDN1 endothelin 1 gene DOID:11394 adult respiratory distress syndrome treatment ISO RGD:2532 D RGD:9068941 20200609 RGD PMID:16741035|REF_RGD_ID:8662284 11962417 EDN1 endothelin 1 gene DOID:114 heart disease ISO RGD:2532 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:heart left ventricle, plasma PMID:16810072|REF_RGD_ID:4892599 11962417 EDN1 endothelin 1 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:20647310|REF_RGD_ID:4144841 11962417 EDN1 endothelin 1 gene DOID:11823 hepatorenal syndrome ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7967349 11962417 EDN1 endothelin 1 gene DOID:1184 nephrotic syndrome ISO RGD:730848 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:34783119 11962417 EDN1 endothelin 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:2532 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased secretion:serum (rat) PMID:19000375|REF_RGD_ID:2302065 11962417 EDN1 endothelin 1 gene DOID:12217 Lewy body dementia ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 11962417 EDN1 endothelin 1 gene DOID:1222 cartilage disease ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20707411 11962417 EDN1 endothelin 1 gene DOID:1287 cardiovascular system disease ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16332659 11962417 EDN1 endothelin 1 gene DOID:12930 dilated cardiomyopathy severity ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:aorta, plasma (human) PMID:10026353|REF_RGD_ID:8661756 11962417 EDN1 endothelin 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16191423 11962417 EDN1 endothelin 1 gene DOID:13241 Behcet's disease ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:9132327|REF_RGD_ID:8661801 11962417 EDN1 endothelin 1 gene DOID:13544 low tension glaucoma ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:21946544|REF_RGD_ID:8661736 11962417 EDN1 endothelin 1 gene DOID:13550 angle-closure glaucoma ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:21946544|REF_RGD_ID:8661736 11962417 EDN1 endothelin 1 gene DOID:13641 exfoliation syndrome ISO RGD:730848 D RGD:9068941 20200609 RGD associated with Cataract;protein:increased expression:aqueous humor (human) PMID:15031170|REF_RGD_ID:8661674 11962417 EDN1 endothelin 1 gene DOID:14330 Parkinson's disease ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 11962417 EDN1 endothelin 1 gene DOID:1470 major depressive disorder ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29175309 11962417 EDN1 endothelin 1 gene DOID:1485 cystic fibrosis ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:sputum (human) PMID:10445603|REF_RGD_ID:4145062 11962417 EDN1 endothelin 1 gene DOID:1682 congenital heart disease ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9671575 11962417 EDN1 endothelin 1 gene DOID:1687 neovascular glaucoma ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor (human) PMID:20373895|REF_RGD_ID:8661689 11962417 EDN1 endothelin 1 gene DOID:1875 impotence ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17420087|REF_RGD_ID:2292142 11962417 EDN1 endothelin 1 gene DOID:1875 impotence ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12002441 11962417 EDN1 endothelin 1 gene DOID:1891 optic nerve disease ISO RGD:730848 D RGD:9068941 20200609 RGD human protein in a rat model PMID:18442442|REF_RGD_ID:8661688 11962417 EDN1 endothelin 1 gene DOID:1924 hypogonadism ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:testis (rat) PMID:17880366|REF_RGD_ID:4833436 11962417 EDN1 endothelin 1 gene DOID:1936 atherosclerosis treatment ISO RGD:10499 D RGD:9068941 20200609 RGD PMID:16806235|REF_RGD_ID:8661682 11962417 EDN1 endothelin 1 gene DOID:2316 brain ischemia ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:8113329|REF_RGD_ID:4144887 11962417 EDN1 endothelin 1 gene DOID:2377 multiple sclerosis ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:12646761|REF_RGD_ID:8661710 11962417 EDN1 endothelin 1 gene DOID:2388 renal artery disease ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA:increased expression:afferent arteriole of kidney (rat) PMID:10217661|REF_RGD_ID:8662320 11962417 EDN1 endothelin 1 gene DOID:2527 nephrosis ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus (rat) PMID:9175058|REF_RGD_ID:4144855 11962417 EDN1 endothelin 1 gene DOID:2527 nephrosis ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7756592 11962417 EDN1 endothelin 1 gene DOID:2799 bronchiolitis obliterans ISO RGD:730848 D RGD:9068941 20200609 RGD human gene in a rat model PMID:9595474|REF_RGD_ID:8662402 11962417 EDN1 endothelin 1 gene DOID:2841 asthma ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16981460 11962417 EDN1 endothelin 1 gene DOID:2841 asthma ISO RGD:730848 D RGD:9068941 20200609 RGD DNA:transition:intron:g.4124T>C (human) PMID:11668616|REF_RGD_ID:4144869 11962417 EDN1 endothelin 1 gene DOID:2841 asthma ISO RGD:730848 D RGD:9068941 20200609 RGD Severe Persistent Allergic Asthma; protein:increased secretion:lung (human) PMID:20588001|REF_RGD_ID:4144895 11962417 EDN1 endothelin 1 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:glomerulus (rat) PMID:8569091|REF_RGD_ID:4144848 11962417 EDN1 endothelin 1 gene DOID:2920 membranoproliferative glomerulonephritis treatment ISO RGD:2532 D RGD:9068941 20200609 RGD PMID:11601021|REF_RGD_ID:8662296 11962417 EDN1 endothelin 1 gene DOID:3021 acute kidney failure ISO RGD:10499 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (mouse) PMID:19967049|REF_RGD_ID:4144852 11962417 EDN1 endothelin 1 gene DOID:3021 acute kidney failure ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9788586 11962417 EDN1 endothelin 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730848 D RGD:9068941 20200609 RGD DNA:insertion, transversion:5' utr, exon:c.138_139insA, p.K198N (human) PMID:20707291|REF_RGD_ID:4144868 11962417 EDN1 endothelin 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:sputum (human) PMID:10445603|REF_RGD_ID:4145062 11962417 EDN1 endothelin 1 gene DOID:3393 coronary artery disease ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:atherosclerotic lesions (human) PMID:7968078|REF_RGD_ID:4144886 11962417 EDN1 endothelin 1 gene DOID:3393 coronary artery disease severity ISO RGD:730848 D RGD:9068941 20200609 RGD associated with Hypertension;DNA:missense mutation:cds:p.L198N (human) PMID:18923236|REF_RGD_ID:8661705 11962417 EDN1 endothelin 1 gene DOID:3393 coronary artery disease treatment ISO RGD:2532 D RGD:9068941 20200609 RGD PMID:11927217|REF_RGD_ID:8662294 11962417 EDN1 endothelin 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17197033 11962417 EDN1 endothelin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:lung, airway epithelium, leukocyte (rat) PMID:9279246|REF_RGD_ID:4144892 11962417 EDN1 endothelin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17235729 11962417 EDN1 endothelin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:730848 D RGD:9068941 20200609 RGD Cryptogenic Fibrosing Alveolitis; mRNA, protein:increased expression:lung, pneumocyte, airway epithelium (human) PMID:8099638|REF_RGD_ID:4144889 11962417 EDN1 endothelin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:730848 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic; protein:increased expression:lung (human) PMID:9284832|REF_RGD_ID:4144866 11962417 EDN1 endothelin 1 gene DOID:4001 ovarian carcinoma ISO RGD:730848 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ovarian tumor (human) PMID:9973223|REF_RGD_ID:4144954 11962417 EDN1 endothelin 1 gene DOID:418 systemic scleroderma ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:7653485|REF_RGD_ID:4145072 11962417 EDN1 endothelin 1 gene DOID:4248 coronary stenosis treatment ISO RGD:730848 D RGD:9068941 20200609 RGD PMID:10854676|REF_RGD_ID:8661796 11962417 EDN1 endothelin 1 gene DOID:4676 uremia ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:11518857|REF_RGD_ID:8662310 11962417 EDN1 endothelin 1 gene DOID:5082 liver cirrhosis ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:20628429|REF_RGD_ID:4144843 11962417 EDN1 endothelin 1 gene DOID:5199 ureteral obstruction ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:renal tubule, renal interstitium (rat) PMID:12887768|REF_RGD_ID:8662268 11962417 EDN1 endothelin 1 gene DOID:5199 ureteral obstruction ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26207612 11962417 EDN1 endothelin 1 gene DOID:5327 retinal detachment ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:23974951|REF_RGD_ID:8661680 11962417 EDN1 endothelin 1 gene DOID:552 pneumonia severity ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:20529344|REF_RGD_ID:4144879 11962417 EDN1 endothelin 1 gene DOID:557 kidney disease ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10399635|PMID:15106802|PMID:8604712 11962417 EDN1 endothelin 1 gene DOID:5844 myocardial infarction ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle (rat) PMID:10573185|REF_RGD_ID:1580921 11962417 EDN1 endothelin 1 gene DOID:5844 myocardial infarction severity ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:17893002|REF_RGD_ID:4144880 11962417 EDN1 endothelin 1 gene DOID:5845 anterolateral myocardial infarction ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:aortic root, coronary sinus, plasma (human) PMID:12581682|REF_RGD_ID:8661757 11962417 EDN1 endothelin 1 gene DOID:6000 congestive heart failure ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:heart: PMID:10199843|REF_RGD_ID:7244167 11962417 EDN1 endothelin 1 gene DOID:6000 congestive heart failure ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11136700|PMID:11707688|PMID:16360360|PMID:16762801|PMID:7967349|PMID:7969316|PMID:9861300 11962417 EDN1 endothelin 1 gene DOID:6000 congestive heart failure severity ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:8149524|REF_RGD_ID:4144845 11962417 EDN1 endothelin 1 gene DOID:6000 congestive heart failure treatment ISO RGD:730848 D RGD:9068941 20200609 RGD PMID:10973842|REF_RGD_ID:8661798 11962417 EDN1 endothelin 1 gene DOID:630 genetic disease ISO RGD:730848 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11962417 EDN1 endothelin 1 gene DOID:6432 pulmonary hypertension ISO RGD:10499 D RGD:9068941 20200609 RGD Hypertension, Heritable Pulmonary Artery; mRNA:increased expression:bone marrow, macrophage (mouse) PMID:20562228|REF_RGD_ID:4144877 11962417 EDN1 endothelin 1 gene DOID:6432 pulmonary hypertension ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:20889845|REF_RGD_ID:4144128 11962417 EDN1 endothelin 1 gene DOID:6432 pulmonary hypertension ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12391278|PMID:20929026|PMID:20967148|PMID:7549228|PMID:9918753 11962417 EDN1 endothelin 1 gene DOID:6432 pulmonary hypertension ISO RGD:730848 D RGD:9068941 20200609 RGD Hypertension, Portopulmonary; protein:increased secretion:plasma (human) PMID:20498147|REF_RGD_ID:4144882 11962417 EDN1 endothelin 1 gene DOID:6432 pulmonary hypertension ISO RGD:730848 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive; protein:increased secretion:plasma (human) PMID:20890431|REF_RGD_ID:4144865 11962417 EDN1 endothelin 1 gene DOID:6713 cerebrovascular disease ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17578707 11962417 EDN1 endothelin 1 gene DOID:7148 rheumatoid arthritis treatment ISO RGD:730848 D RGD:9068941 20200609 RGD PMID:22249931|REF_RGD_ID:8661695 11962417 EDN1 endothelin 1 gene DOID:750 peptic ulcer disease ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16384872 11962417 EDN1 endothelin 1 gene DOID:77 gastrointestinal system disease ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16324314 11962417 EDN1 endothelin 1 gene DOID:783 end stage renal disease ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:8441230|REF_RGD_ID:4144849 11962417 EDN1 endothelin 1 gene DOID:8252 chronic rhinitis ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:inferior turbinate, nasal gland, inflammatory cell (human) PMID:8845175|REF_RGD_ID:8661738 11962417 EDN1 endothelin 1 gene DOID:8466 retinal degeneration ISO RGD:10499 D RGD:9068941 20200609 RGD PMID:22729434|REF_RGD_ID:8661730 11962417 EDN1 endothelin 1 gene DOID:8466 retinal degeneration ISO RGD:10499 D RGD:9068941 20200609 RGD protein:altered expression:retinal pigment epithelium, outer plexiform layer, retinal astrocyte (mouse) PMID:16129094|REF_RGD_ID:8661732 11962417 EDN1 endothelin 1 gene DOID:8805 intermediate coronary syndrome ISO RGD:730848 D RGD:9068941 20200609 RGD associated with Coronary Artery Disease;protein:increased expression:coronary sinus, plasma (human) PMID:14556009|REF_RGD_ID:8661755 11962417 EDN1 endothelin 1 gene DOID:8947 diabetic retinopathy ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (rat) PMID:20628425|REF_RGD_ID:9068929 11962417 EDN1 endothelin 1 gene DOID:8947 diabetic retinopathy ISO RGD:730848 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased secretion:plasma PMID:19293263|REF_RGD_ID:2313279 11962417 EDN1 endothelin 1 gene DOID:8947 diabetic retinopathy ISO RGD:730848 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:exon:p.K198N (human) PMID:18806884|REF_RGD_ID:2313281 11962417 EDN1 endothelin 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:730848 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (human) PMID:12629276|REF_RGD_ID:4144854 11962417 EDN1 endothelin 1 gene DOID:900 hepatopulmonary syndrome ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased secretion:liver, plasma (rat) PMID:15185300|REF_RGD_ID:4144891 11962417 EDN1 endothelin 1 gene DOID:9000040 Hypertrophy ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12791704|PMID:20177073 11962417 EDN1 endothelin 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12011762|PMID:15838369 11962417 EDN1 endothelin 1 gene DOID:9000208 Auriculocondylar Syndrome ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11962417 EDN1 endothelin 1 gene DOID:9000307 Presbycusis susceptibility ISO RGD:730848 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L198N (rs5370) (human) PMID:19358249|REF_RGD_ID:8661662 11962417 EDN1 endothelin 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8587695 11962417 EDN1 endothelin 1 gene DOID:9000590 Dyspnea ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased secretion:urine (human) PMID:18831711|REF_RGD_ID:4145071 11962417 EDN1 endothelin 1 gene DOID:9000641 Pain ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19429182|PMID:20042899 11962417 EDN1 endothelin 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15486036 11962417 EDN1 endothelin 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:10499 D RGD:9068941 20200609 RGD PMID:12941866|REF_RGD_ID:734914 11962417 EDN1 endothelin 1 gene DOID:9001090 Question Mark Ears, Isolated ISO RGD:730848 D RGD:7240710 20180130 OMIM 11962417 EDN1 endothelin 1 gene DOID:9001090 Question Mark Ears, Isolated ISO RGD:730848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Question mark ears, isolated PMID:23315542|PMID:24268655|PMID:28492532 11962417 EDN1 endothelin 1 gene DOID:9001443 Hypercapnia ISO RGD:10499 D RGD:9068941 20200609 RGD PMID:8764295|REF_RGD_ID:4144902 11962417 EDN1 endothelin 1 gene DOID:9001443 Hypercapnia ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (rat) PMID:11230327|REF_RGD_ID:4144885 11962417 EDN1 endothelin 1 gene DOID:9001542 Albuminuria ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:renal papilla (rat) PMID:20666571|REF_RGD_ID:4144838 11962417 EDN1 endothelin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12609069 11962417 EDN1 endothelin 1 gene DOID:9001614 Chronic Tubulointerstitial Nephropathy ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA:increased expression:renal cortex (rat) PMID:9893116|REF_RGD_ID:8662387 11962417 EDN1 endothelin 1 gene DOID:9001650 Pregnancy-Induced Hypertension ISO RGD:730848 D RGD:9068941 20200609 RGD DNA:transversion:exon:p.K198N rs5370 (human) PMID:19730395|REF_RGD_ID:4145063 11962417 EDN1 endothelin 1 gene DOID:9001650 Pregnancy-Induced Hypertension no_association ISO RGD:730848 D RGD:9068941 20200609 RGD DNA:transversion:exon:p.K198N rs5370 (human) PMID:11593097|REF_RGD_ID:4145070 11962417 EDN1 endothelin 1 gene DOID:9001809 Urinary Retention ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15371886 11962417 EDN1 endothelin 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:730848 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased secretion:plasma (human) PMID:18346810|REF_RGD_ID:2313284 11962417 EDN1 endothelin 1 gene DOID:9002211 Hyperalgesia ISO RGD:10499 D RGD:9068941 20200609 RGD mRNA:increased expression:paw skin (mouse) PMID:23347081|REF_RGD_ID:8661716 11962417 EDN1 endothelin 1 gene DOID:9002211 Hyperalgesia ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19429182 11962417 EDN1 endothelin 1 gene DOID:9002211 Hyperalgesia susceptibility ISO RGD:10499 D RGD:9068941 20200609 RGD PMID:15664691|REF_RGD_ID:8661735 11962417 EDN1 endothelin 1 gene DOID:9002457 Experimental Arthritis ISO RGD:10499 D RGD:9068941 20200609 RGD mRNA:increased expression:inguinal lymph node (mouse) PMID:22249931|REF_RGD_ID:8661695 11962417 EDN1 endothelin 1 gene DOID:9002646 Auriculocondylar Syndrome 3 ISO RGD:730848 D RGD:7240710 20180130 OMIM 11962417 EDN1 endothelin 1 gene DOID:9002646 Auriculocondylar Syndrome 3 ISO RGD:730848 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Auriculocondylar syndrome 3 PMID:12244558|PMID:17357073|PMID:18288492|PMID:23315542|PMID:24268655|PMID:25741868|PMID:28492532 11962417 EDN1 endothelin 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20707411 11962417 EDN1 endothelin 1 gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:2532 D RGD:9068941 20200609 RGD PMID:11430925|REF_RGD_ID:8662299 11962417 EDN1 endothelin 1 gene DOID:9003507 Premature Birth ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25230003 11962417 EDN1 endothelin 1 gene DOID:9003936 Cardiomegaly ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22198280 11962417 EDN1 endothelin 1 gene DOID:9003936 Cardiomegaly severity ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:heart ventricle, plasma (rat) PMID:7771559|REF_RGD_ID:8661803 11962417 EDN1 endothelin 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2532 D RGD:9068941 20200609 RGD PMID:18722366|REF_RGD_ID:4892577 11962417 EDN1 endothelin 1 gene DOID:9004009 Reperfusion Injury ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17470888 11962417 EDN1 endothelin 1 gene DOID:9004484 Sepsis ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:multiple (rat) PMID:10838194|REF_RGD_ID:8662298 11962417 EDN1 endothelin 1 gene DOID:9004610 Acute Lung Injury ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16625121 11962417 EDN1 endothelin 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle (rat) PMID:10543394|REF_RGD_ID:8661692 11962417 EDN1 endothelin 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10601118|PMID:15486036 11962417 EDN1 endothelin 1 gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:2532 D RGD:9068941 20200609 RGD PMID:10601118|REF_RGD_ID:8662288 11962417 EDN1 endothelin 1 gene DOID:9005005 Oral Ulcer ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16391412 11962417 EDN1 endothelin 1 gene DOID:9005372 Inflammation ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23451061 11962417 EDN1 endothelin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10499 D RGD:9068941 20200609 RGD PMID:18351623|REF_RGD_ID:2312288 11962417 EDN1 endothelin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA:increased expression:heart, kidney, retina (rat) PMID:18516100|REF_RGD_ID:2313282 11962417 EDN1 endothelin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12458661|PMID:12967931 11962417 EDN1 endothelin 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2532 D RGD:9068941 20200609 RGD PMID:18351623|REF_RGD_ID:2312288 11962417 EDN1 endothelin 1 gene DOID:9005930 Endotoxemia ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (rat) PMID:11206318|REF_RGD_ID:8662297 11962417 EDN1 endothelin 1 gene DOID:9006024 Hypotension ISO RGD:10499 D RGD:9068941 20200609 RGD PMID:20516397|REF_RGD_ID:4144881 11962417 EDN1 endothelin 1 gene DOID:9006024 Hypotension ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10399635|PMID:1309933 11962417 EDN1 endothelin 1 gene DOID:9007001 Bradycardia ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1309933|PMID:8440307 11962417 EDN1 endothelin 1 gene DOID:9007095 Pneumoperitoneum ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney, peritubular capillary, proximal tubule (rat) PMID:11285964|REF_RGD_ID:8662302 11962417 EDN1 endothelin 1 gene DOID:9007096 Stroke ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20083630 11962417 EDN1 endothelin 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10462014|PMID:11707688|PMID:16306806 11962417 EDN1 endothelin 1 gene DOID:9007480 Hyperoxia ISO RGD:2532 D RGD:9068941 20200609 RGD protein:altered expression:lung (rat) PMID:20589171|REF_RGD_ID:4144857 11962417 EDN1 endothelin 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25194819 11962417 EDN1 endothelin 1 gene DOID:9007651 Chronic Bronchitis ISO RGD:10499 D RGD:9068941 20200609 RGD Chronic Allergic Airway Inflammation; protein:increased secretion:bronchoalveolar lavage (mouse) PMID:18631350|REF_RGD_ID:4145074 11962417 EDN1 endothelin 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2532 D RGD:9068941 20200609 RGD PMID:18586023|REF_RGD_ID:4892580 11962417 EDN1 endothelin 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15642760|PMID:16700825 11962417 EDN1 endothelin 1 gene DOID:9008091 Optic Nerve Injuries ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:18600494|REF_RGD_ID:4892579 11962417 EDN1 endothelin 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:10499 D RGD:9068941 20200609 RGD PMID:8152482|REF_RGD_ID:734913 11962417 EDN1 endothelin 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10100047|PMID:20707411|PMID:8152482|PMID:9671575 11962417 EDN1 endothelin 1 gene DOID:9008848 Slow Coronary Flow ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:plasma, coronary sinus, femoral artery (human) PMID:15336804|REF_RGD_ID:9684971 11962417 EDN1 endothelin 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10693666|PMID:9473106 11962417 EDN1 endothelin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:mesenteric artery PMID:19286964|REF_RGD_ID:2313280 11962417 EDN1 endothelin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16387788 11962417 EDN1 endothelin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730848 D RGD:9068941 20200609 RGD mRNA:increased expression:blood vessel endothelial cell PMID:19581418|REF_RGD_ID:2313278 11962417 EDN1 endothelin 1 gene DOID:9477 pulmonary embolism severity ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (rat) PMID:20559433|REF_RGD_ID:4144858 11962417 EDN1 endothelin 1 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:23974951|REF_RGD_ID:8661680 11962417 EDN1 endothelin 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:2198188|REF_RGD_ID:4144835 11962417 EDN1 endothelin 1 gene DOID:9970 obesity ISO RGD:730848 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.K198N (human) PMID:17444275|REF_RGD_ID:1625065 11962430 MAGEF1 MAGE family member F1 gene DOID:0111546 Currarino syndrome ISO RGD:1348798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11962430 MAGEF1 MAGE family member F1 gene DOID:630 genetic disease ISO RGD:1348798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962435 TULP4 TUB like protein 4 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1350994 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 11962435 TULP4 TUB like protein 4 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1350994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 11962435 TULP4 TUB like protein 4 gene DOID:630 genetic disease ISO RGD:1350994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962453 KIFAP3 kinesin associated protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1313072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11962453 KIFAP3 kinesin associated protein 3 gene DOID:630 genetic disease ISO RGD:1313072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962453 KIFAP3 kinesin associated protein 3 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1313072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 11962453 KIFAP3 kinesin associated protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11962488 LOC100986394 olfactory receptor 5D16 gene DOID:1059 intellectual disability ISO RGD:1352687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11962488 LOC100986394 olfactory receptor 5D16 gene DOID:630 genetic disease ISO RGD:1352687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962489 PROSER1 proline and serine rich 1 gene DOID:630 genetic disease ISO RGD:1319730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962509 CAPNS1 calpain small subunit 1 gene DOID:0080600 COVID-19 ISO RGD:735486 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11962509 CAPNS1 calpain small subunit 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:735486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11962509 CAPNS1 calpain small subunit 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:735486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11962509 CAPNS1 calpain small subunit 1 gene DOID:630 genetic disease ISO RGD:735486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962509 CAPNS1 calpain small subunit 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11962538 SYCE2 synaptonemal complex central element protein 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1603348 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11962538 SYCE2 synaptonemal complex central element protein 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1603348 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11962538 SYCE2 synaptonemal complex central element protein 2 gene DOID:0111254 glutaric acidemia I ISO RGD:1603348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:10960496|PMID:11058907|PMID:11073722|PMID:11854167|PMID:12948740|PMID:15248096|PMID:15505393|PMID:16602100|PMID:17188916|PMID:17478444|PMID:17576681|PMID:18683078|PMID:18926513|PMID:19486177|PMID:1951469|PMID:19630565|PMID:21031586|PMID:21176883|PMID:22728054|PMID:23104440|PMID:24973495|PMID:25256449|PMID:25735478|PMID:25741868|PMID:27250579|PMID:27672653|PMID:28302372|PMID:28438223|PMID:28492532|PMID:29201125|PMID:29665094|PMID:31536184|PMID:31952437|PMID:32005694|PMID:34258142|PMID:34344405|PMID:8900227|PMID:8900228|PMID:9536098|PMID:9600243|PMID:9711871 11962538 SYCE2 synaptonemal complex central element protein 2 gene DOID:3413 alpha-mannosidosis ISO RGD:1603348 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11962538 SYCE2 synaptonemal complex central element protein 2 gene DOID:630 genetic disease ISO RGD:1603348 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11962538 SYCE2 synaptonemal complex central element protein 2 gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1603348 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 PMID:28492532 11962538 SYCE2 synaptonemal complex central element protein 2 gene DOID:9009132 Glutaric Aciduria ISO RGD:1603348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric acidemia PMID:25741868 11962554 KCTD2 potassium channel tetramerization domain containing 2 gene DOID:630 genetic disease ISO RGD:1348745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962564 TRAPPC9 trafficking protein particle complex subunit 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1605926 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11962564 TRAPPC9 trafficking protein particle complex subunit 9 gene DOID:0081098 autosomal recessive intellectual developmental disorder 13 ISO RGD:1605926 D RGD:7240710 20180130 OMIM 11962564 TRAPPC9 trafficking protein particle complex subunit 9 gene DOID:0081098 autosomal recessive intellectual developmental disorder 13 ISO RGD:1605926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 13 | ClinVar Annotator: match by term: Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome PMID:17120046|PMID:18414213|PMID:2000476|PMID:20004763|PMID:20004764|PMID:20004765|PMID:21629298|PMID:22549410|PMID:25533962|PMID:25741868|PMID:28492532|PMID:29187737|PMID:29610177|PMID:33403770 11962564 TRAPPC9 trafficking protein particle complex subunit 9 gene DOID:1059 intellectual disability ISO RGD:1605926 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability | ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome PMID:18414213|PMID:25533962|PMID:25741868|PMID:28492532 11962564 TRAPPC9 trafficking protein particle complex subunit 9 gene DOID:1059 intellectual disability ISO RGD:1605926 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability | ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome PMID:18414213|PMID:25533962|PMID:25741868|PMID:28492532|PMID:29610177 11962564 TRAPPC9 trafficking protein particle complex subunit 9 gene DOID:1059 intellectual disability ISO RGD:1605926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability | ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25533962|PMID:25741868|PMID:26934580|PMID:28492532|PMID:29610177 11962564 TRAPPC9 trafficking protein particle complex subunit 9 gene DOID:5419 schizophrenia ISO RGD:1605926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11962564 TRAPPC9 trafficking protein particle complex subunit 9 gene DOID:630 genetic disease ISO RGD:1605926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:2000476|PMID:20004763|PMID:20004764|PMID:25533962|PMID:25741868|PMID:26934580|PMID:28492532|PMID:29187737|PMID:29610177|PMID:33403770 11962564 TRAPPC9 trafficking protein particle complex subunit 9 gene DOID:9006534 Nervous System Malformations ISO RGD:1605926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:2000476|PMID:20004763|PMID:20004764|PMID:20004765|PMID:21629298|PMID:25741868|PMID:28492532 11962599 JAG2 jagged canonical Notch ligand 2 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:733495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11962599 JAG2 jagged canonical Notch ligand 2 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:733495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 11962599 JAG2 jagged canonical Notch ligand 2 gene DOID:11193 syndactyly ISO RGD:733495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9531541 11962599 JAG2 jagged canonical Notch ligand 2 gene DOID:3068 glioblastoma ISO RGD:733495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 11962599 JAG2 jagged canonical Notch ligand 2 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:733495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20038814 11962599 JAG2 jagged canonical Notch ligand 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:733495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 11962599 JAG2 jagged canonical Notch ligand 2 gene DOID:630 genetic disease ISO RGD:733495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962599 JAG2 jagged canonical Notch ligand 2 gene DOID:9005234 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 27 ISO RGD:733495 D RGD:7240710 20211110 OMIM 11962599 JAG2 jagged canonical Notch ligand 2 gene DOID:9005234 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 27 ISO RGD:733495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 27 PMID:25741868|PMID:28492532|PMID:33861953 11962599 JAG2 jagged canonical Notch ligand 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9531541 11962599 JAG2 jagged canonical Notch ligand 2 gene DOID:9008939 Breast Neoplasms ISO RGD:733495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 11962650 IQCF1 IQ motif containing F1 gene DOID:630 genetic disease ISO RGD:1348129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962664 HEXB hexosaminidase subunit beta gene DOID:0080600 COVID-19 ISO RGD:1316898 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11962664 HEXB hexosaminidase subunit beta gene DOID:1059 intellectual disability ISO RGD:1316898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11962664 HEXB hexosaminidase subunit beta gene DOID:12377 spinal muscular atrophy ISO RGD:1316898 D RGD:9068941 20200609 RGD DNA,protein:point_mutations:CDS:compound heterozygosity for A619G/I207V and A1367C/Y456S PMID:1720305|REF_RGD_ID:1599424 11962664 HEXB hexosaminidase subunit beta gene DOID:3021 acute kidney failure ISO RGD:1316898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22005293 11962664 HEXB hexosaminidase subunit beta gene DOID:3323 Sandhoff disease ISO RGD:1316898 D RGD:7240710 20180130 OMIM 11962664 HEXB hexosaminidase subunit beta gene DOID:3323 Sandhoff disease ISO RGD:1316898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sandhoff disease | ClinVar Annotator: match by term: Sandhoff disease, chronic | ClinVar Annotator: match by term: Sandhoff-Jatzkewitz-Pilz disease PMID:10724|PMID:10982028|PMID:11329289|PMID:11897243|PMID:12027830|PMID:12166653|PMID:12706724|PMID:1386607|PMID:1390948|PMID:14724290|PMID:1487253|PMID:1531140|PMID:1532910|PMID:16169011|PMID:16199547|PMID:17015493|PMID:1720305|PMID:1723749|PMID:17237499|PMID:17576681|PMID:18758829|PMID:19595619|PMID:1975561|PMID:19763152|PMID:19823769|PMID:19898952|PMID:20307669|PMID:20798201|PMID:20926324|PMID:21150067|PMID:2139865|PMID:2147027|PMID:2147031|PMID:21483992|PMID:21567908|PMID:2170400|PMID:22191674|PMID:22406018|PMID:22789865|PMID:22848519|PMID:23010210|PMID:23046579|PMID:23113155|PMID:23127958|PMID:23158871|PMID:23418865|PMID:23759947|PMID:24022928|PMID:24033266|PMID:24082139|PMID:24263030|PMID:24356898|PMID:24461908|PMID:24503148|PMID:24613245|PMID:24915922|PMID:2522450|PMID:25525159|PMID:25640679|PMID:25736553|PMID:25741868|PMID:26582265|PMID:27021291|PMID:27142713|PMID:27435318|PMID:27629047|PMID:27682710|PMID:27697305|PMID:28281504|PMID:28476546|PMID:28492532|PMID:28895707|PMID:2921040|PMID:29448188|PMID:29451896|PMID:2948136|PMID:2973515|PMID:30065954|PMID:30075786|PMID:3014997|PMID:30548430|PMID:31319225|PMID:31367523|PMID:3156493|PMID:31589614|PMID:31852446|PMID:31974414|PMID:31995250|PMID:32036093|PMID:32860008|PMID:33176815|PMID:33407268|PMID:33673364|PMID:33742171|PMID:33824075|PMID:34210542|PMID:34226107|PMID:34856081|PMID:571983|PMID:7550345|PMID:7557963|PMID:7633435|PMID:8045559|PMID:8076944|PMID:8106452|PMID:8162015|PMID:8357844|PMID:8593535|PMID:868875|PMID:8950198|PMID:9401004|PMID:9475608|PMID:9536098|PMID:9562328|PMID:9694901 11962664 HEXB hexosaminidase subunit beta gene DOID:630 genetic disease ISO RGD:1316898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10724|PMID:17015493|PMID:19595619|PMID:20798201|PMID:2147031|PMID:2170400|PMID:22789865|PMID:24461908|PMID:24915922|PMID:2522450|PMID:25741868|PMID:27021291|PMID:28492532 11962664 HEXB hexosaminidase subunit beta gene DOID:9002051 Sandhoff Disease, Juvenile Type ISO RGD:1316898 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sandhoff disease, juvenile type PMID:10724|PMID:1386607|PMID:1531140|PMID:17015493|PMID:1720305|PMID:17237499|PMID:20798201|PMID:21150067|PMID:2147027|PMID:2147031|PMID:2170400|PMID:22789865|PMID:23127958|PMID:24263030|PMID:24915922|PMID:2522450|PMID:25736553|PMID:25741868|PMID:27021291|PMID:27142713|PMID:28492532|PMID:29448188|PMID:3014997|PMID:7557963|PMID:8106452 11962664 HEXB hexosaminidase subunit beta gene DOID:9003926 Sandhoff Disease, Infantile Type ISO RGD:1316898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sandhoff disease, infantile type PMID:10982028|PMID:18758829|PMID:19823769|PMID:21483992|PMID:23010210|PMID:23046579|PMID:24613245|PMID:25741868|PMID:26582265|PMID:28492532|PMID:29448188|PMID:7550345|PMID:7633435|PMID:8045559|PMID:8162015|PMID:9888387 11962664 HEXB hexosaminidase subunit beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11962664 HEXB hexosaminidase subunit beta gene DOID:9008015 Sandhoff Disease, Adult Type ISO RGD:1316898 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sandhoff disease, adult type PMID:12027830|PMID:12166653|PMID:1386607|PMID:1531140|PMID:17237499|PMID:17251047|PMID:20798201|PMID:20926324|PMID:21150067|PMID:2147027|PMID:22789865|PMID:23010210|PMID:23127958|PMID:23759947|PMID:24263030|PMID:25736553|PMID:25741868|PMID:28492532|PMID:29448188|PMID:2948136|PMID:571983|PMID:7557963|PMID:8357844|PMID:8950198|PMID:9562328 11962683 WFDC10A WAP four-disulfide core domain 10A gene DOID:2234 focal epilepsy ISO RGD:1315782 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11962683 WFDC10A WAP four-disulfide core domain 10A gene DOID:630 genetic disease ISO RGD:1315782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962683 WFDC10A WAP four-disulfide core domain 10A gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1315782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11962692 VPS41 VPS41 subunit of HOPS complex gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11962692 VPS41 VPS41 subunit of HOPS complex gene DOID:630 genetic disease ISO RGD:1353898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962692 VPS41 VPS41 subunit of HOPS complex gene DOID:9008255 Cognitive Impairment with or Without Cerebellar Ataxia ISO RGD:1353898 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cognitive impairment with or without cerebellar ataxia PMID:25741868 11962692 VPS41 VPS41 subunit of HOPS complex gene DOID:9008984 Autosomal Recessive Spinocerebellar Ataxia 29 ISO RGD:1353898 D RGD:7240710 20210728 OMIM 11962692 VPS41 VPS41 subunit of HOPS complex gene DOID:9008984 Autosomal Recessive Spinocerebellar Ataxia 29 ISO RGD:1353898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 29 PMID:32808683|PMID:33764426|PMID:33851776 11962726 CCKAR cholecystokinin A receptor gene DOID:10211 cholelithiasis ISO RGD:731770 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; mRNA:decreased expression:gallbladder,smooth muscle PMID:15908333|REF_RGD_ID:2314139 11962726 CCKAR cholecystokinin A receptor gene DOID:1574 alcohol use disorder ISO RGD:731770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9922984 11962726 CCKAR cholecystokinin A receptor gene DOID:1793 pancreatic cancer ISO RGD:2289 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:8222074|REF_RGD_ID:4110822 11962726 CCKAR cholecystokinin A receptor gene DOID:1793 pancreatic cancer ISO RGD:731770 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:10457335|REF_RGD_ID:4110817 11962726 CCKAR cholecystokinin A receptor gene DOID:3587 pancreatic ductal carcinoma ISO RGD:731770 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreatic duct PMID:9239407|REF_RGD_ID:4110818 11962726 CCKAR cholecystokinin A receptor gene DOID:3587 pancreatic ductal carcinoma ISO RGD:731770 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:12851875|REF_RGD_ID:4110816 11962726 CCKAR cholecystokinin A receptor gene DOID:630 genetic disease ISO RGD:731770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962726 CCKAR cholecystokinin A receptor gene DOID:9000011 Gallbladder Neoplasms ISO RGD:731770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25025063 11962726 CCKAR cholecystokinin A receptor gene DOID:9003126 Hallucinations ISO RGD:731770 D RGD:9068941 20200609 RGD associated with Parkinson Disease;DNA:polymorphism, haplotype: :779T>C (human) PMID:12777967|REF_RGD_ID:1625802 11962726 CCKAR cholecystokinin A receptor gene DOID:9003126 Hallucinations ISO RGD:731770 D RGD:9068941 20200609 RGD associated with Schizophrenia PMID:10572328|REF_RGD_ID:1358451 11962726 CCKAR cholecystokinin A receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:2289 D RGD:9068941 20200609 RGD DNA:deletion PMID:16815799|REF_RGD_ID:1625200 11962726 CCKAR cholecystokinin A receptor gene DOID:9970 obesity ISO RGD:2289 D RGD:9068941 20200609 RGD DNA:deletion PMID:9530226|REF_RGD_ID:7257724 11962726 CCKAR cholecystokinin A receptor gene DOID:9970 obesity ISO RGD:731770 D RGD:9068941 20200609 RGD PMID:9192855|REF_RGD_ID:734711 11962735 PIGB phosphatidylinositol glycan anchor biosynthesis class B gene DOID:0060833 Griscelli syndrome type 2 ISO RGD:1316334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 2 PMID:10835631|PMID:23160464|PMID:28492532 11962735 PIGB phosphatidylinositol glycan anchor biosynthesis class B gene DOID:0112216 developmental and epileptic encephalopathy 80 ISO RGD:1316334 D RGD:7240710 20191002 OMIM 11962735 PIGB phosphatidylinositol glycan anchor biosynthesis class B gene DOID:0112216 developmental and epileptic encephalopathy 80 ISO RGD:1316334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 80 PMID:17343268|PMID:25326635|PMID:25741868|PMID:28492532|PMID:31256876|PMID:34400385 11962735 PIGB phosphatidylinositol glycan anchor biosynthesis class B gene DOID:2717 Bloom syndrome ISO RGD:1316334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11962735 PIGB phosphatidylinositol glycan anchor biosynthesis class B gene DOID:630 genetic disease ISO RGD:1316334 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11962735 PIGB phosphatidylinositol glycan anchor biosynthesis class B gene DOID:9002100 Hyperphosphatasia with Mental Retardation Syndrome 1 ISO RGD:1316334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 PMID:25326635|PMID:25741868|PMID:31256876 11962735 PIGB phosphatidylinositol glycan anchor biosynthesis class B gene DOID:9256 colorectal cancer ISO RGD:1316334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11962752 LOC103782663 E3 ubiquitin-protein ligase TRIM34 gene DOID:630 genetic disease ISO RGD:1316640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962783 ZNF620 zinc finger protein 620 gene DOID:630 genetic disease ISO RGD:1606672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962814 ZNF260 zinc finger protein 260 gene DOID:630 genetic disease ISO RGD:1606913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962866 HYOU1 hypoxia up-regulated 1 gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:1606826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 11962866 HYOU1 hypoxia up-regulated 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1606826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11962866 HYOU1 hypoxia up-regulated 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1606826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11962866 HYOU1 hypoxia up-regulated 1 gene DOID:0080690 RASopathy ISO RGD:1606826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11962866 HYOU1 hypoxia up-regulated 1 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1606826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 11962866 HYOU1 hypoxia up-regulated 1 gene DOID:0110651 long QT syndrome 10 ISO RGD:1606826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11962866 HYOU1 hypoxia up-regulated 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1606826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11962866 HYOU1 hypoxia up-regulated 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1606826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11962866 HYOU1 hypoxia up-regulated 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1606826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11962866 HYOU1 hypoxia up-regulated 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1606826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11962866 HYOU1 hypoxia up-regulated 1 gene DOID:0111974 immunodeficiency 59 ISO RGD:1606826 D RGD:7240710 20200826 OMIM 11962866 HYOU1 hypoxia up-regulated 1 gene DOID:0111974 immunodeficiency 59 ISO RGD:1606826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality PMID:25741868|PMID:27913302|PMID:28492532 11962866 HYOU1 hypoxia up-regulated 1 gene DOID:5419 schizophrenia ISO RGD:1606826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11962866 HYOU1 hypoxia up-regulated 1 gene DOID:630 genetic disease ISO RGD:1606826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11962866 HYOU1 hypoxia up-regulated 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11962866 HYOU1 hypoxia up-regulated 1 gene DOID:9007661 Dwarfism ISO RGD:1606826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11962920 SPATA33 spermatogenesis associated 33 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1602656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 11962920 SPATA33 spermatogenesis associated 33 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1602656 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11962920 SPATA33 spermatogenesis associated 33 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1602656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:23613520 11962920 SPATA33 spermatogenesis associated 33 gene DOID:13636 Fanconi anemia ISO RGD:1602656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 11962920 SPATA33 spermatogenesis associated 33 gene DOID:14780 KBG syndrome ISO RGD:1602656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 11962920 SPATA33 spermatogenesis associated 33 gene DOID:630 genetic disease ISO RGD:1602656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962933 MKI67 marker of proliferation Ki-67 gene DOID:0050745 diffuse large B-cell lymphoma disease_progression ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:20919850|REF_RGD_ID:6483541 11962933 MKI67 marker of proliferation Ki-67 gene DOID:0050868 hepatocellular adenoma ISO RGD:1313525 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:31939706 11962933 MKI67 marker of proliferation Ki-67 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1313525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11962933 MKI67 marker of proliferation Ki-67 gene DOID:0080178 mucositis ISO RGD:1305476 D RGD:9068941 20200609 RGD PMID:21846355|REF_RGD_ID:5509078 11962933 MKI67 marker of proliferation Ki-67 gene DOID:0080600 COVID-19 ISO RGD:1313525 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11962933 MKI67 marker of proliferation Ki-67 gene DOID:0081267 graft-versus-host disease ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:21440078|REF_RGD_ID:6483534 11962933 MKI67 marker of proliferation Ki-67 gene DOID:10286 prostate carcinoma ISO RGD:1305476 D RGD:9068941 20200609 RGD PMID:22268182|REF_RGD_ID:6483545 11962933 MKI67 marker of proliferation Ki-67 gene DOID:10534 stomach cancer treatment ISO RGD:1313525 D RGD:9068941 20210611 RGD human cells in mouse model PMID:29408335|REF_RGD_ID:127284846 11962933 MKI67 marker of proliferation Ki-67 gene DOID:11054 urinary bladder cancer ISO RGD:1305476 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:20367636|REF_RGD_ID:2317708 11962933 MKI67 marker of proliferation Ki-67 gene DOID:1227 neutropenia ISO RGD:1313525 D RGD:9068941 20200609 RGD protein:increased expression:blood, T cell PMID:22092365|REF_RGD_ID:6483522 11962933 MKI67 marker of proliferation Ki-67 gene DOID:12365 malaria ISO RGD:1313526 D RGD:9068941 20200609 RGD associated with Lung Neoplasms PMID:21931708|REF_RGD_ID:6483517 11962933 MKI67 marker of proliferation Ki-67 gene DOID:127 leiomyoma ISO RGD:1305476 D RGD:9068941 20200609 RGD PMID:22302692|REF_RGD_ID:6483544 11962933 MKI67 marker of proliferation Ki-67 gene DOID:1324 lung cancer ameliorates ISO RGD:1313525 D RGD:9068941 20220901 RGD human cells in mouse model PMID:29183007|REF_RGD_ID:153344580 11962933 MKI67 marker of proliferation Ki-67 gene DOID:13949 interstitial cystitis ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:21166752|REF_RGD_ID:6483539 11962933 MKI67 marker of proliferation Ki-67 gene DOID:1612 breast cancer ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:21880954|REF_RGD_ID:6483528 11962933 MKI67 marker of proliferation Ki-67 gene DOID:1612 breast cancer disease_progression ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:22004841|REF_RGD_ID:6483516 11962933 MKI67 marker of proliferation Ki-67 gene DOID:1793 pancreatic cancer ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:20137856|REF_RGD_ID:2317704 11962933 MKI67 marker of proliferation Ki-67 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1313525 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:20350215|REF_RGD_ID:2317703 11962933 MKI67 marker of proliferation Ki-67 gene DOID:219 colon cancer treatment ISO RGD:1305476 D RGD:9068941 20210611 RGD PMID:33360052|REF_RGD_ID:127229954 11962933 MKI67 marker of proliferation Ki-67 gene DOID:2843 long QT syndrome ISO RGD:1313525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11962933 MKI67 marker of proliferation Ki-67 gene DOID:299 adenocarcinoma ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19028472 11962933 MKI67 marker of proliferation Ki-67 gene DOID:3042 allergic contact dermatitis ISO RGD:1313526 D RGD:9068941 20200609 RGD PMID:21294775|REF_RGD_ID:6483538 11962933 MKI67 marker of proliferation Ki-67 gene DOID:3070 high grade glioma ISO RGD:1305476 D RGD:9068941 20200609 RGD PMID:22262719|REF_RGD_ID:6483547 11962933 MKI67 marker of proliferation Ki-67 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1313525 D RGD:9068941 20220901 RGD human cells in mouse model PMID:31205511|PMID:32276600|REF_RGD_ID:151357000|REF_RGD_ID:153344584 11962933 MKI67 marker of proliferation Ki-67 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1313525 D RGD:9068941 20220721 RGD protein:altered expression:lung (human) PMID:26942465|REF_RGD_ID:152999419 11962933 MKI67 marker of proliferation Ki-67 gene DOID:4545 mesenchymal chondrosarcoma ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12817616 11962933 MKI67 marker of proliferation Ki-67 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:12903495|REF_RGD_ID:2317705 11962933 MKI67 marker of proliferation Ki-67 gene DOID:5031 adult pineal parenchymal tumor severity ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:21696422|REF_RGD_ID:6483520 11962933 MKI67 marker of proliferation Ki-67 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:21576701|REF_RGD_ID:6483531 11962933 MKI67 marker of proliferation Ki-67 gene DOID:557 kidney disease ISO RGD:1305476 D RGD:9068941 20200609 RGD PMID:22017545|REF_RGD_ID:6483553 11962933 MKI67 marker of proliferation Ki-67 gene DOID:574 peripheral nervous system disease ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 11962933 MKI67 marker of proliferation Ki-67 gene DOID:630 genetic disease ISO RGD:1313525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11962933 MKI67 marker of proliferation Ki-67 gene DOID:684 hepatocellular carcinoma ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11962933 MKI67 marker of proliferation Ki-67 gene DOID:687 hepatoblastoma ameliorates ISO RGD:1313525 D RGD:9068941 20220825 RGD human cells in mouse model PMID:31541079|REF_RGD_ID:153344539 11962933 MKI67 marker of proliferation Ki-67 gene DOID:8719 in situ carcinoma ISO RGD:1313525 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms;protein:increased expression:pancreas PMID:20350215|REF_RGD_ID:2317703 11962933 MKI67 marker of proliferation Ki-67 gene DOID:8778 Crohn's disease ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:21364546|REF_RGD_ID:6483536 11962933 MKI67 marker of proliferation Ki-67 gene DOID:8893 psoriasis ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10384915 11962933 MKI67 marker of proliferation Ki-67 gene DOID:8893 psoriasis ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:22499302|REF_RGD_ID:6483515 11962933 MKI67 marker of proliferation Ki-67 gene DOID:9000918 Disease Progression ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29179997 11962933 MKI67 marker of proliferation Ki-67 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313525 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:20388395|REF_RGD_ID:2317702 11962933 MKI67 marker of proliferation Ki-67 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11962933 MKI67 marker of proliferation Ki-67 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21442130 11962933 MKI67 marker of proliferation Ki-67 gene DOID:9002928 Colonic Neoplasms ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19028472 11962933 MKI67 marker of proliferation Ki-67 gene DOID:9002928 Colonic Neoplasms ISO RGD:1313526 D RGD:9068941 20200609 RGD PMID:22070864|REF_RGD_ID:6483523 11962933 MKI67 marker of proliferation Ki-67 gene DOID:9002936 Bile Duct Neoplasms disease_progression ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:9869516|REF_RGD_ID:2317706 11962933 MKI67 marker of proliferation Ki-67 gene DOID:9005372 Inflammation ISO RGD:1313525 D RGD:9068941 20200609 RGD associated with Common Variable Immunodeficiency PMID:21536322|REF_RGD_ID:6483533 11962933 MKI67 marker of proliferation Ki-67 gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 11962933 MKI67 marker of proliferation Ki-67 gene DOID:9007533 Hantavirus Infections ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:21795350|REF_RGD_ID:6483519 11962933 MKI67 marker of proliferation Ki-67 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1305476 D RGD:9068941 20200609 RGD PMID:22405128|REF_RGD_ID:6483543 11962933 MKI67 marker of proliferation Ki-67 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12645814 11962933 MKI67 marker of proliferation Ki-67 gene DOID:9008510 Chronic Hepatitis ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 11962933 MKI67 marker of proliferation Ki-67 gene DOID:9008939 Breast Neoplasms ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15706428|PMID:18768436|PMID:19436038 11962933 MKI67 marker of proliferation Ki-67 gene DOID:9074 systemic lupus erythematosus ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:21693493|REF_RGD_ID:6483529 11962933 MKI67 marker of proliferation Ki-67 gene DOID:9206 Barrett's esophagus severity ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:22147251|REF_RGD_ID:6483521 11962933 MKI67 marker of proliferation Ki-67 gene DOID:9256 colorectal cancer ameliorates ISO RGD:1313525 D RGD:9068941 20220908 RGD human cells in mouse model PMID:34974791|REF_RGD_ID:153344629 11962933 MKI67 marker of proliferation Ki-67 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1305476 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:20045412|REF_RGD_ID:2317709 11962956 PER1 period circadian regulator 1 gene DOID:0060001 withdrawal disorder ISO RGD:1349050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20738730 11962956 PER1 period circadian regulator 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1349050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11962956 PER1 period circadian regulator 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1552867 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 11962956 PER1 period circadian regulator 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1349050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11962956 PER1 period circadian regulator 1 gene DOID:12849 autistic disorder ISO RGD:1349050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17264841 11962956 PER1 period circadian regulator 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1349050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11962956 PER1 period circadian regulator 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1349050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11962956 PER1 period circadian regulator 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1349050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 11962956 PER1 period circadian regulator 1 gene DOID:630 genetic disease ISO RGD:1349050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962956 PER1 period circadian regulator 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1349050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11962956 PER1 period circadian regulator 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:1349050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16999817 11962986 PLEKHN1 pleckstrin homology domain containing N1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11962986 PLEKHN1 pleckstrin homology domain containing N1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604774 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11962986 PLEKHN1 pleckstrin homology domain containing N1 gene DOID:0080600 COVID-19 ISO RGD:1604774 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11962986 PLEKHN1 pleckstrin homology domain containing N1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1604774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11962986 PLEKHN1 pleckstrin homology domain containing N1 gene DOID:0111934 immunodeficiency 38 ISO RGD:1604774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11962986 PLEKHN1 pleckstrin homology domain containing N1 gene DOID:0111935 immunodeficiency 16 ISO RGD:1604774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11962986 PLEKHN1 pleckstrin homology domain containing N1 gene DOID:630 genetic disease ISO RGD:1604774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11962986 PLEKHN1 pleckstrin homology domain containing N1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11962986 PLEKHN1 pleckstrin homology domain containing N1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1604774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11963005 FOXP4 forkhead box P4 gene DOID:0050444 infantile Refsum disease ISO RGD:1322820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11963005 FOXP4 forkhead box P4 gene DOID:10003 sensorineural hearing loss ISO RGD:1322820 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868|PMID:28492532 11963005 FOXP4 forkhead box P4 gene DOID:3910 lung adenocarcinoma ISO RGD:1322820 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 11963005 FOXP4 forkhead box P4 gene DOID:6000 congestive heart failure ISO RGD:1322820 D RGD:9068941 20200609 RGD PMID:16952980|REF_RGD_ID:1582564 11963005 FOXP4 forkhead box P4 gene DOID:630 genetic disease ISO RGD:1322820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963005 FOXP4 forkhead box P4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20676098 11963005 FOXP4 forkhead box P4 gene DOID:9008086 Developmental Disabilities ISO RGD:1322820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11963005 FOXP4 forkhead box P4 gene DOID:905 Zellweger syndrome ISO RGD:1322820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11963055 PCNX3 pecanex 3 gene DOID:1059 intellectual disability ISO RGD:1602160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11963055 PCNX3 pecanex 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11963055 PCNX3 pecanex 3 gene DOID:2746 glycogen storage disease V ISO RGD:1602160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11963055 PCNX3 pecanex 3 gene DOID:3070 high grade glioma ISO RGD:1602160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11963055 PCNX3 pecanex 3 gene DOID:630 genetic disease ISO RGD:1602160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963055 PCNX3 pecanex 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1602160 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11963055 PCNX3 pecanex 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1602160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 11963055 PCNX3 pecanex 3 gene DOID:9074 systemic lupus erythematosus ISO RGD:1602160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26808113 11963094 SNRPN small nuclear ribonucleoprotein polypeptide N gene DOID:0060041 autism spectrum disorder ISO RGD:1343749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545|PMID:28492532 11963094 SNRPN small nuclear ribonucleoprotein polypeptide N gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1343749 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 11963094 SNRPN small nuclear ribonucleoprotein polypeptide N gene DOID:11983 Prader-Willi syndrome ISO RGD:1343749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 11963094 SNRPN small nuclear ribonucleoprotein polypeptide N gene DOID:11983 Prader-Willi syndrome susceptibility ISO RGD:1343749 D RGD:9068941 20200702 RGD DNA:deletion PMID:8723064|REF_RGD_ID:1601354 11963094 SNRPN small nuclear ribonucleoprotein polypeptide N gene DOID:12849 autistic disorder ISO RGD:1343749 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 11963094 SNRPN small nuclear ribonucleoprotein polypeptide N gene DOID:1932 Angelman syndrome ISO RGD:1343749 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:12210318|PMID:18821858|PMID:22190369|PMID:23495136|PMID:24088041|PMID:25099823|PMID:25212744|PMID:25884337|PMID:26633545|PMID:28492532 11963094 SNRPN small nuclear ribonucleoprotein polypeptide N gene DOID:5419 schizophrenia ISO RGD:1343749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11963094 SNRPN small nuclear ribonucleoprotein polypeptide N gene DOID:630 genetic disease ISO RGD:1343749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963094 SNRPN small nuclear ribonucleoprotein polypeptide N gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11963112 MYCL MYCL proto-oncogene, bHLH transcription factor gene DOID:0050902 medulloblastoma ISO RGD:1346068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 11963112 MYCL MYCL proto-oncogene, bHLH transcription factor gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1346068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11963112 MYCL MYCL proto-oncogene, bHLH transcription factor gene DOID:5409 lung small cell carcinoma ISO RGD:1346068 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22941189 11963112 MYCL MYCL proto-oncogene, bHLH transcription factor gene DOID:630 genetic disease ISO RGD:1346068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963112 MYCL MYCL proto-oncogene, bHLH transcription factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26005866 11963150 MAGEB2 MAGE family member B2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11963150 MAGEB2 MAGE family member B2 gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:1350701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked PMID:17504899|PMID:20685758|PMID:21408189|PMID:26980296|PMID:28492532 11963150 MAGEB2 MAGE family member B2 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1350701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:12632325|PMID:19937601|PMID:22510846|PMID:23453023|PMID:24302611|PMID:24504883|PMID:28492532|PMID:31705731 11963150 MAGEB2 MAGE family member B2 gene DOID:12849 autistic disorder ISO RGD:1350701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11963150 MAGEB2 MAGE family member B2 gene DOID:630 genetic disease ISO RGD:1350701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963150 MAGEB2 MAGE family member B2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11963161 TRIM41 tripartite motif containing 41 gene DOID:630 genetic disease ISO RGD:1318911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963190 DLAT dihydrolipoamide S-acetyltransferase gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:735273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 11963190 DLAT dihydrolipoamide S-acetyltransferase gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:735273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:25966638|PMID:28492532 11963190 DLAT dihydrolipoamide S-acetyltransferase gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:735273 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 11963190 DLAT dihydrolipoamide S-acetyltransferase gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:735273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:28492532 11963190 DLAT dihydrolipoamide S-acetyltransferase gene DOID:10283 prostate cancer ISO RGD:735273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11963190 DLAT dihydrolipoamide S-acetyltransferase gene DOID:1059 intellectual disability ISO RGD:735273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11963190 DLAT dihydrolipoamide S-acetyltransferase gene DOID:12704 ataxia telangiectasia ISO RGD:735273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11963190 DLAT dihydrolipoamide S-acetyltransferase gene DOID:630 genetic disease ISO RGD:735273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29093066 11963190 DLAT dihydrolipoamide S-acetyltransferase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:735273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11963190 DLAT dihydrolipoamide S-acetyltransferase gene DOID:9007102 Myocardial Ischemia ISO RGD:735273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11963190 DLAT dihydrolipoamide S-acetyltransferase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11963190 DLAT dihydrolipoamide S-acetyltransferase gene DOID:9007980 Sleep Deprivation ISO RGD:619859 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex PMID:16923172|REF_RGD_ID:2313667 11963190 DLAT dihydrolipoamide S-acetyltransferase gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:735273 D RGD:7240710 20180130 OMIM 11963190 DLAT dihydrolipoamide S-acetyltransferase gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:735273 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:16049940|PMID:16199547|PMID:17576681|PMID:20022530|PMID:25326637|PMID:25741868|PMID:28492532|PMID:29093066|PMID:9536098 11963208 ADPRH ADP-ribosylarginine hydrolase gene DOID:0080600 COVID-19 ISO RGD:732427 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11963208 ADPRH ADP-ribosylarginine hydrolase gene DOID:630 genetic disease ISO RGD:732427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963208 ADPRH ADP-ribosylarginine hydrolase gene DOID:9007702 Carcinogenesis ISO RGD:10094 D RGD:9068941 20200609 RGD PMID:21697277|REF_RGD_ID:13838723 11963218 PLEKHJ1 pleckstrin homology domain containing J1 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1316273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 11963218 PLEKHJ1 pleckstrin homology domain containing J1 gene DOID:630 genetic disease ISO RGD:1316273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963218 PLEKHJ1 pleckstrin homology domain containing J1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11963227 TPRKB TP53RK binding protein gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1603050 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11963227 TPRKB TP53RK binding protein gene DOID:0080247 Galloway-Mowat syndrome 5 ISO RGD:1603050 D RGD:7240710 20190315 OMIM 11963227 TPRKB TP53RK binding protein gene DOID:0080247 Galloway-Mowat syndrome 5 ISO RGD:1603050 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 5 PMID:25741868|PMID:28492532|PMID:28805828|PMID:29127259 11963227 TPRKB TP53RK binding protein gene DOID:0080694 Galloway-Mowat syndrome ISO RGD:1603050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28805828 11963227 TPRKB TP53RK binding protein gene DOID:1184 nephrotic syndrome ISO RGD:1603050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:28805828|PMID:29127259 11963227 TPRKB TP53RK binding protein gene DOID:543 dystonia ISO RGD:1603050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11963227 TPRKB TP53RK binding protein gene DOID:630 genetic disease ISO RGD:1603050 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11963227 TPRKB TP53RK binding protein gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1603050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11963249 PSMD13 proteasome 26S subunit, non-ATPase 13 gene DOID:0111969 immunodeficiency 39 ISO RGD:1313146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11963249 PSMD13 proteasome 26S subunit, non-ATPase 13 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11963249 PSMD13 proteasome 26S subunit, non-ATPase 13 gene DOID:630 genetic disease ISO RGD:1313146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963266 IRF4 interferon regulatory factor 4 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1317594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 11963266 IRF4 interferon regulatory factor 4 gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:1317594 D RGD:9068941 20200609 RGD DNA:translocation PMID:18987657|REF_RGD_ID:11526155 11963266 IRF4 interferon regulatory factor 4 gene DOID:0050745 diffuse large B-cell lymphoma disease_progression ISO RGD:1317594 D RGD:9068941 20200609 RGD PMID:15701085|REF_RGD_ID:11530023 11963266 IRF4 interferon regulatory factor 4 gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1317594 D RGD:9068941 20200609 RGD DNA:translocation PMID:18987657|REF_RGD_ID:11526155 11963266 IRF4 interferon regulatory factor 4 gene DOID:0050873 follicular lymphoma severity ISO RGD:1317594 D RGD:9068941 20200609 RGD PMID:17296585|REF_RGD_ID:11530032 11963266 IRF4 interferon regulatory factor 4 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1317594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 11963266 IRF4 interferon regulatory factor 4 gene DOID:0060901 lymphoplasmacytic lymphoma ISO RGD:1317594 D RGD:9068941 20200609 RGD PMID:23355206|REF_RGD_ID:11530052 11963266 IRF4 interferon regulatory factor 4 gene DOID:0070004 myeloid neoplasm ISO RGD:1317595 D RGD:9068941 20200609 RGD PMID:20585039|REF_RGD_ID:11530030 11963266 IRF4 interferon regulatory factor 4 gene DOID:0080600 COVID-19 ISO RGD:1317594 D RGD:9068941 20200709 RGD mRNA:decreased expression:antibody secreting B cells (human) PMID:32377375|REF_RGD_ID:32716422 11963266 IRF4 interferon regulatory factor 4 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1317595 D RGD:9068941 20200609 RGD PMID:20585039|PMID:21818355|PMID:25006123|REF_RGD_ID:11526159|REF_RGD_ID:11530020|REF_RGD_ID:11530030 11963266 IRF4 interferon regulatory factor 4 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1317594 D RGD:9068941 20200609 RGD DNA:SNP: :rs872071 (human) PMID:20731705|REF_RGD_ID:11530029 11963266 IRF4 interferon regulatory factor 4 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1317594 D RGD:9068941 20200609 RGD DNA:SNPs:3' utr:multiple PMID:20123861|REF_RGD_ID:11530031 11963266 IRF4 interferon regulatory factor 4 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1317594 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.L116R (human) PMID:21791429|REF_RGD_ID:11526158 11963266 IRF4 interferon regulatory factor 4 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1317595 D RGD:9068941 20200609 RGD PMID:23926303|REF_RGD_ID:11530026 11963266 IRF4 interferon regulatory factor 4 gene DOID:1040 chronic lymphocytic leukemia disease_progression ISO RGD:1317594 D RGD:9068941 20200609 RGD PMID:20090783|REF_RGD_ID:11530021 11963266 IRF4 interferon regulatory factor 4 gene DOID:1040 chronic lymphocytic leukemia disease_progression ISO RGD:1317595 D RGD:9068941 20200609 RGD PMID:23897826|REF_RGD_ID:11526156 11963266 IRF4 interferon regulatory factor 4 gene DOID:1240 leukemia disease_progression ISO RGD:1317594 D RGD:9068941 20200609 RGD PMID:23977280|REF_RGD_ID:11526157 11963266 IRF4 interferon regulatory factor 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317594 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:23589561|REF_RGD_ID:11530060 11963266 IRF4 interferon regulatory factor 4 gene DOID:3525 middle cerebral artery infarction ISO RGD:1308050 D RGD:9068941 20200609 RGD PMID:25652434|REF_RGD_ID:11530061 11963266 IRF4 interferon regulatory factor 4 gene DOID:630 genetic disease ISO RGD:1317594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11963266 IRF4 interferon regulatory factor 4 gene DOID:9000752 Skin/Hair/Eye Pigmentation, Variation In, 1 ISO RGD:1317594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 1 PMID:25741868 11963266 IRF4 interferon regulatory factor 4 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1317594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18758461 11963266 IRF4 interferon regulatory factor 4 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:1317594 D RGD:9068941 20200609 RGD PMID:12079517|PMID:12393648|REF_RGD_ID:11526160|REF_RGD_ID:11530024 11963266 IRF4 interferon regulatory factor 4 gene DOID:9003936 Cardiomegaly ISO RGD:1317595 D RGD:9068941 20200609 RGD PMID:23589561|REF_RGD_ID:11530060 11963266 IRF4 interferon regulatory factor 4 gene DOID:9005172 Lung Neoplasms ISO RGD:1317594 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35915169 11963266 IRF4 interferon regulatory factor 4 gene DOID:9006853 Skin/Hair/Eye Pigmentation, Variation In, 8 ISO RGD:1317594 D RGD:7240710 20221214 OMIM 11963266 IRF4 interferon regulatory factor 4 gene DOID:9006853 Skin/Hair/Eye Pigmentation, Variation In, 8 ISO RGD:1317594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 8 PMID:18483556|PMID:24267888|PMID:25631878 11963266 IRF4 interferon regulatory factor 4 gene DOID:9538 multiple myeloma ISO RGD:1317594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18568025 11963266 IRF4 interferon regulatory factor 4 gene DOID:9538 multiple myeloma ISO RGD:1317594 D RGD:9068941 20200609 RGD DNA:translocation PMID:10557056|REF_RGD_ID:11526161 11963266 IRF4 interferon regulatory factor 4 gene DOID:9538 multiple myeloma disease_progression ISO RGD:1317594 D RGD:9068941 20200609 RGD PMID:17690696|REF_RGD_ID:11530019 11963266 IRF4 interferon regulatory factor 4 gene DOID:9538 multiple myeloma treatment ISO RGD:1317594 D RGD:9068941 20200609 RGD PMID:21707574|REF_RGD_ID:11530055 11963266 IRF4 interferon regulatory factor 4 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1317594 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs12203592 (human) PMID:19897031|REF_RGD_ID:11526162 11963278 HYCC2 hyccin PI4KA lipid kinase complex subunit 2 gene DOID:630 genetic disease ISO RGD:1605824 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963278 HYCC2 hyccin PI4KA lipid kinase complex subunit 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1605824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 11963278 HYCC2 hyccin PI4KA lipid kinase complex subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11963278 HYCC2 hyccin PI4KA lipid kinase complex subunit 2 gene DOID:9004657 Weight Gain ISO RGD:1605824 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11963320 MKRN2OS MKRN2 opposite strand gene DOID:630 genetic disease ISO RGD:6481351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963328 GSDMB gasdermin B gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1346441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 11963328 GSDMB gasdermin B gene DOID:2841 asthma ISO RGD:1346441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24241537 11963328 GSDMB gasdermin B gene DOID:630 genetic disease ISO RGD:1346441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963351 RPS7 ribosomal protein S7 gene DOID:0111881 Diamond-Blackfan anemia 8 ISO RGD:1348295 D RGD:7240710 20180130 OMIM 11963351 RPS7 ribosomal protein S7 gene DOID:0111881 Diamond-Blackfan anemia 8 ISO RGD:1348295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 PMID:17576681|PMID:19061985|PMID:23718193|PMID:25424902|PMID:25741868|PMID:27882484|PMID:28102861|PMID:28492532|PMID:9536098 11963351 RPS7 ribosomal protein S7 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1348295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:25741868|PMID:26136524|PMID:28492532 11963351 RPS7 ribosomal protein S7 gene DOID:9008939 Breast Neoplasms ISO RGD:1348295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 11963365 FPR1 formyl peptide receptor 1 gene DOID:10283 prostate cancer ISO RGD:1322039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11963365 FPR1 formyl peptide receptor 1 gene DOID:1483 gingival disease ISO RGD:1322039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gingival disorder PMID:17927965|PMID:24033266|PMID:28492532|PMID:31534221 11963365 FPR1 formyl peptide receptor 1 gene DOID:3482 plague ISO RGD:1322039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: N-FORMYLPEPTIDE RECEPTOR POLYMORPHISM PMID:28492532|PMID:31534221 11963365 FPR1 formyl peptide receptor 1 gene DOID:630 genetic disease ISO RGD:1322039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11963365 FPR1 formyl peptide receptor 1 gene DOID:824 periodontitis ISO RGD:1322039 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Periodontitis PMID:28492532 11963371 SLCO3A1 solute carrier organic anion transporter family member 3A1 gene DOID:630 genetic disease ISO RGD:733471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963402 FRMPD3 FERM and PDZ domain containing 3 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1601735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 11963402 FRMPD3 FERM and PDZ domain containing 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1601735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11963402 FRMPD3 FERM and PDZ domain containing 3 gene DOID:12849 autistic disorder ISO RGD:1601735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11963421 RFC3 replication factor C subunit 3 gene DOID:630 genetic disease ISO RGD:1315670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963453 DHX34 DExH-box helicase 34 gene DOID:0080322 polycystic kidney disease ISO RGD:1605422 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:31256877 11963453 DHX34 DExH-box helicase 34 gene DOID:1059 intellectual disability ISO RGD:1605422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability 11963453 DHX34 DExH-box helicase 34 gene DOID:1826 epilepsy ISO RGD:1605422 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:31256877 11963453 DHX34 DExH-box helicase 34 gene DOID:630 genetic disease ISO RGD:1605422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963453 DHX34 DExH-box helicase 34 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605422 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorders PMID:31256877 11963453 DHX34 DExH-box helicase 34 gene DOID:9007661 Dwarfism ISO RGD:1605422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:31256877 11963477 NUP62 nucleoporin 62 gene DOID:12236 primary biliary cholangitis severity ISO RGD:1349933 D RGD:9068941 20200609 RGD PMID:12753810|REF_RGD_ID:9831196 11963477 NUP62 nucleoporin 62 gene DOID:630 genetic disease ISO RGD:1349933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11963477 NUP62 nucleoporin 62 gene DOID:9008334 Striatonigral Degeneration, Infantile ISO RGD:1349933 D RGD:7240710 20180130 OMIM 11963477 NUP62 nucleoporin 62 gene DOID:9008334 Striatonigral Degeneration, Infantile ISO RGD:1349933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile bilateral striatal necrosis | ClinVar Annotator: match by term: Striatal degeneration familial PMID:16786527|PMID:25741868|PMID:28492532 11963492 ZFP64 ZFP64 zinc finger protein gene DOID:630 genetic disease ISO RGD:1317439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963520 LOC100982351 ubiquinol-cytochrome-c reductase complex assembly factor 2 gene DOID:0050553 JMP syndrome ISO RGD:1315803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11963520 LOC100982351 ubiquinol-cytochrome-c reductase complex assembly factor 2 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1315803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11963520 LOC100982351 ubiquinol-cytochrome-c reductase complex assembly factor 2 gene DOID:0080116 mitochondrial complex III deficiency nuclear type 7 ISO RGD:1315803 D RGD:7240710 20180130 OMIM 11963520 LOC100982351 ubiquinol-cytochrome-c reductase complex assembly factor 2 gene DOID:0080116 mitochondrial complex III deficiency nuclear type 7 ISO RGD:1315803 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 7 PMID:24385928|PMID:25741868|PMID:28492532 11963520 LOC100982351 ubiquinol-cytochrome-c reductase complex assembly factor 2 gene DOID:630 genetic disease ISO RGD:1315803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:0050860 colorectal adenoma ISO RGD:732271 D RGD:9068941 20200609 RGD PMID:21122381|PMID:23082052|REF_RGD_ID:13217408|REF_RGD_ID:13217413 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:732271 D RGD:9068941 20200609 RGD PMID:21122381|REF_RGD_ID:13217408 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:0060071 pre-malignant neoplasm ISO RGD:732271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21317887 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:621506 D RGD:9068941 20210827 RGD protein:increased phosphorylation:adipose tissue, liver (rat) PMID:27909723|REF_RGD_ID:150340686 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:621506 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; PMID:24404139|REF_RGD_ID:13506784 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:732271 D RGD:9068941 20200609 RGD protein:increased expression:brain,CA1 field of hippocampus: PMID:11208906|REF_RGD_ID:10412676 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:10763 hypertension ISO RGD:621506 D RGD:9068941 20200609 RGD PMID:15302844|REF_RGD_ID:1582315 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:732272 D RGD:9068941 20200609 RGD PMID:23341606|REF_RGD_ID:10412675 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:11168 anogenital venereal wart treatment ISO RGD:732271 D RGD:9068941 20210827 RGD mRNA:increased expression:zone of skin (human) PMID:25774455|REF_RGD_ID:36174028 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:11372 megacolon ISO RGD:732271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:12098 trigeminal neuralgia ISO RGD:732271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:12205 dengue disease ISO RGD:732272 D RGD:9068941 20210827 RGD protein:increased phosphorylation:liver (mouse) PMID:28188818|REF_RGD_ID:150340680 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:13619 extrahepatic cholestasis ISO RGD:732271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:1508 candidiasis ameliorates ISO RGD:732272 D RGD:9068941 20210827 RGD PMID:28112734|REF_RGD_ID:150340684 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:1984 rectal benign neoplasm ISO RGD:732271 D RGD:9068941 20200609 RGD DNA:SNP: :rs10508901 (human) PMID:22199996|REF_RGD_ID:13217410 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:1984 rectal benign neoplasm ISO RGD:732271 D RGD:9068941 20200609 RGD DNA:SNP: :rs10857561 (human) PMID:23027623|REF_RGD_ID:13217411 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:2058 chronic mucocutaneous candidiasis ISO RGD:732271 D RGD:9068941 20210827 RGD associated with connective tissue disease;DNA:splice-site mutation:splice junction:c.311+1G>A (human) PMID:31784499|REF_RGD_ID:150340677 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:2237 hepatitis ISO RGD:732272 D RGD:9068941 20220811 RGD PMID:25173965|REF_RGD_ID:153305943 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:2316 brain ischemia ISO RGD:621506 D RGD:9068941 20200609 RGD PMID:15797868|REF_RGD_ID:1582325 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:289 endometriosis ISO RGD:732271 D RGD:9068941 20210827 RGD mRNA:increased expression:peritoneum (human) PMID:25207642|REF_RGD_ID:150340690 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732272 D RGD:9068941 20221117 RGD mRNA, protein:increased expression:lung (mouse) PMID:34331613|REF_RGD_ID:155663371 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:732271 D RGD:9068941 20200609 RGD PMID:20699612|REF_RGD_ID:5490968 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:3310 atopic dermatitis ISO RGD:732271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24046278 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:732272 D RGD:9068941 20200609 RGD protein:increased phosphorylation:pancreas (mouse) PMID:23237571|REF_RGD_ID:14348975 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:732272 D RGD:9068941 20200609 RGD PMID:28837246|REF_RGD_ID:14348974 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:3944 Arenaviridae infectious disease ISO RGD:732272 D RGD:9068941 20210827 RGD PMID:11927625|REF_RGD_ID:150340679 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:4074 pancreatic adenocarcinoma exacerbates ISO RGD:732271 D RGD:9068941 20210827 RGD protein:increased phosphorylation:pancreas (human) PMID:24395444|REF_RGD_ID:150340683 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:621506 D RGD:9068941 20200609 RGD PMID:21894146|REF_RGD_ID:6218988 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:5419 schizophrenia ISO RGD:732271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:5844 myocardial infarction ameliorates ISO RGD:621506 D RGD:9068941 20230427 RGD PMID:28622474|REF_RGD_ID:329333030 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:732271 D RGD:9068941 20210827 RGD protein:decreased phosphorylation:liver (human) PMID:33875785|REF_RGD_ID:150340688 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:7693 abdominal aortic aneurysm ISO RGD:732271 D RGD:9068941 20200609 RGD PMID:16311603|REF_RGD_ID:1582313 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:7693 abdominal aortic aneurysm ISO RGD:732272 D RGD:9068941 20200609 RGD PMID:16311603|REF_RGD_ID:1582313 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:874 bacterial pneumonia severity ISO RGD:732272 D RGD:9068941 20210827 RGD associated with Escherichia Coli Infections PMID:22514650|REF_RGD_ID:150340681 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:9000217 Stomach Neoplasms ISO RGD:732271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18593901 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:9000371 influenza A ameliorates ISO RGD:732272 D RGD:9068941 20210827 RGD PMID:22514650|REF_RGD_ID:150340681 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:9000955 Acute Otitis Media ISO RGD:732272 D RGD:9068941 20210827 RGD mRNA:decreased expression:middle ear (mouse) PMID:21307808|REF_RGD_ID:150340689 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:9002137 Infectious Ectromelia exacerbates ISO RGD:732272 D RGD:9068941 20210827 RGD PMID:24673683|REF_RGD_ID:150340678 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:621506 D RGD:9068941 20200609 RGD protein:increased activity:liver: PMID:11679968|REF_RGD_ID:10412680 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:9002211 Hyperalgesia ISO RGD:732271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:9002245 Intestinal Neoplasms ISO RGD:732272 D RGD:9068941 20200609 RGD PMID:17591974|REF_RGD_ID:13217412 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:9002245 Intestinal Neoplasms treatment ISO RGD:732272 D RGD:9068941 20200609 RGD PMID:23327547|REF_RGD_ID:13217409 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:732272 D RGD:9068941 20200609 RGD PMID:19433784|REF_RGD_ID:10412674 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:9002928 Colonic Neoplasms ISO RGD:732271 D RGD:9068941 20200609 RGD PMID:17591974|REF_RGD_ID:13217412 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:732271 D RGD:9068941 20200609 RGD PMID:18460448|REF_RGD_ID:13217414 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:9003936 Cardiomegaly ISO RGD:732272 D RGD:9068941 20200609 RGD PMID:12668503|REF_RGD_ID:1582316 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:9004009 Reperfusion Injury ISO RGD:621506 D RGD:9068941 20200609 RGD PMID:16699462|REF_RGD_ID:1582310 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:9004009 Reperfusion Injury ISO RGD:732271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20302854 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:9004484 Sepsis treatment ISO RGD:621506 D RGD:9068941 20210827 RGD PMID:14662889|REF_RGD_ID:126928138 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:9004590 Acute Liver Failure ISO RGD:732271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17185352 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:9005666 Contrast-Induced Nephropathy treatment ISO RGD:621506 D RGD:9068941 20200609 RGD PMID:27781957|REF_RGD_ID:13782262 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:9005930 Endotoxemia ISO RGD:621506 D RGD:9068941 20210827 RGD protein:increased phophorylation:hippocampus (rat) PMID:12207162|REF_RGD_ID:150340687 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:9006205 Animal Disease Models ISO RGD:732271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:9007096 Stroke ISO RGD:621506 D RGD:9068941 20200609 RGD PMID:10773432|REF_RGD_ID:1582317 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:9007417 Pseudomonas Infections ameliorates ISO RGD:732272 D RGD:9068941 20210827 RGD associated with Pneumonia, Ventilator-Associated PMID:27506464|REF_RGD_ID:150340682 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21726611 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:621506 D RGD:9068941 20200609 RGD PMID:12883833|PMID:15309413|REF_RGD_ID:1582311|REF_RGD_ID:1582312 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:621506 D RGD:9068941 20220923 RGD PMID:31583047|REF_RGD_ID:155230831 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:9008114 Helicobacter Infections ISO RGD:732271 D RGD:9068941 20210827 RGD protein:increased expression:pyloric antrum (human) PMID:17643099|REF_RGD_ID:150340691 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:621506 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:pancreatic islet: PMID:21911753|REF_RGD_ID:13506785 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732271 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:pancreatic islet: PMID:21911753|REF_RGD_ID:13506785 11963528 MAPK8 mitogen-activated protein kinase 8 gene DOID:9452 fatty liver disease ISO RGD:732272 D RGD:9068941 20200609 RGD PMID:21540183|REF_RGD_ID:9585751 11963530 ENTPD3 ectonucleoside triphosphate diphosphohydrolase 3 gene DOID:10283 prostate cancer ISO RGD:1346927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11963530 ENTPD3 ectonucleoside triphosphate diphosphohydrolase 3 gene DOID:630 genetic disease ISO RGD:1346927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963545 PLAU plasminogen activator, urokinase gene DOID:0050127 sinusitis ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:21711960|REF_RGD_ID:6483796 11963545 PLAU plasminogen activator, urokinase gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18491991 11963545 PLAU plasminogen activator, urokinase gene DOID:0050855 renal fibrosis ISO RGD:733174 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:15882265|PMID:19690163|REF_RGD_ID:7241138|REF_RGD_ID:7241268 11963545 PLAU plasminogen activator, urokinase gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:oral mucosa (rat) PMID:15878520|REF_RGD_ID:8547730 11963545 PLAU plasminogen activator, urokinase gene DOID:0060903 thrombosis ISO RGD:3343 D RGD:9068941 20200609 RGD protein:increased activity:extracellular region (rat) PMID:20016209|REF_RGD_ID:2325698 11963545 PLAU plasminogen activator, urokinase gene DOID:0060903 thrombosis ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12830724|PMID:2106299|PMID:2133253|PMID:2795766|PMID:4884574|PMID:8657906 11963545 PLAU plasminogen activator, urokinase gene DOID:0080348 Alzheimer's disease 1 susceptibility ISO RGD:735727 D RGD:7240710 20230517 OMIM 11963545 PLAU plasminogen activator, urokinase gene DOID:0080653 urolithiasis ISO RGD:735727 D RGD:9068941 20200609 RGD DNA:snp:3' utr:g.4065C>T (human) PMID:18240004|REF_RGD_ID:7241142 11963545 PLAU plasminogen activator, urokinase gene DOID:0111050 Quebec platelet disorder ISO RGD:735727 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Quebec platelet disorder PMID:12689937|PMID:18988861|PMID:20007542|PMID:22102275|PMID:25741868|PMID:28301587|PMID:28492532|PMID:32663239|PMID:33270854 11963545 PLAU plasminogen activator, urokinase gene DOID:0111050 Quebec platelet disorder susceptibility ISO RGD:735727 D RGD:7240710 20230517 OMIM 11963545 PLAU plasminogen activator, urokinase gene DOID:10283 prostate cancer severity ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:10024688|REF_RGD_ID:7241264 11963545 PLAU plasminogen activator, urokinase gene DOID:10487 Hirschsprung's disease ISO RGD:735727 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:28492532 11963545 PLAU plasminogen activator, urokinase gene DOID:10652 Alzheimer's disease ISO RGD:735727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease, late-onset, susceptibility to PMID:12898287|PMID:15615772|PMID:15616835|PMID:16341549|PMID:28492532 11963545 PLAU plasminogen activator, urokinase gene DOID:10652 Alzheimer's disease no_association ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:19889475|REF_RGD_ID:6483807 11963545 PLAU plasminogen activator, urokinase gene DOID:10754 otitis media treatment ISO RGD:8776154 D RGD:9068941 20200609 RGD PMID:2473673|REF_RGD_ID:11553864 11963545 PLAU plasminogen activator, urokinase gene DOID:10941 intracranial aneurysm ISO RGD:733174 D RGD:9068941 20200609 RGD PMID:21786025|REF_RGD_ID:6483795 11963545 PLAU plasminogen activator, urokinase gene DOID:10952 nephritis ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12671112 11963545 PLAU plasminogen activator, urokinase gene DOID:11054 urinary bladder cancer ISO RGD:735727 D RGD:9068941 20200609 RGD DNA:snp:3' utr:g.4065C>T (human) PMID:16825821|REF_RGD_ID:7241144 11963545 PLAU plasminogen activator, urokinase gene DOID:11054 urinary bladder cancer ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder (human) PMID:18336603|REF_RGD_ID:7241213 11963545 PLAU plasminogen activator, urokinase gene DOID:11054 urinary bladder cancer treatment ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:19010488|REF_RGD_ID:4144867 11963545 PLAU plasminogen activator, urokinase gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12671112|PMID:9002298 11963545 PLAU plasminogen activator, urokinase gene DOID:11394 adult respiratory distress syndrome ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:17994220|REF_RGD_ID:4892109 11963545 PLAU plasminogen activator, urokinase gene DOID:11446 sciatic neuropathy ISO RGD:3343 D RGD:9068941 20200609 RGD mRNA:increased expression:sciatic nerve (rat) PMID:18716863|REF_RGD_ID:6483827 11963545 PLAU plasminogen activator, urokinase gene DOID:11446 sciatic neuropathy treatment ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:21151668|REF_RGD_ID:7241585 11963545 PLAU plasminogen activator, urokinase gene DOID:1168 familial hyperlipidemia ISO RGD:733174 D RGD:9068941 20200609 RGD associated with Venous Thrombosis; protein:increased expression:wall of vein, thrombus (mouse) PMID:22119245|REF_RGD_ID:6903200 11963545 PLAU plasminogen activator, urokinase gene DOID:11832 visual epilepsy ISO RGD:733174 D RGD:9068941 20200609 RGD PMID:22293605|REF_RGD_ID:6483790 11963545 PLAU plasminogen activator, urokinase gene DOID:14018 alcoholic liver cirrhosis ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:19615318|REF_RGD_ID:7241800 11963545 PLAU plasminogen activator, urokinase gene DOID:1461 cholesterol embolism ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16773802 11963545 PLAU plasminogen activator, urokinase gene DOID:1612 breast cancer ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:nipple, discharge (human) PMID:22296682|REF_RGD_ID:7241082 11963545 PLAU plasminogen activator, urokinase gene DOID:1612 breast cancer treatment ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:19500378|REF_RGD_ID:7241801 11963545 PLAU plasminogen activator, urokinase gene DOID:1749 squamous cell carcinoma severity ISO RGD:735727 D RGD:9068941 20200609 RGD mRNA:increased expression:oral cavity (human) PMID:12866027|REF_RGD_ID:7241134 11963545 PLAU plasminogen activator, urokinase gene DOID:1793 pancreatic cancer ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10467400 11963545 PLAU plasminogen activator, urokinase gene DOID:1824 status epilepticus ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:17040480|REF_RGD_ID:6484215 11963545 PLAU plasminogen activator, urokinase gene DOID:1824 status epilepticus ISO RGD:3343 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hippocampus (rat) PMID:19527776|REF_RGD_ID:6483810 11963545 PLAU plasminogen activator, urokinase gene DOID:1824 status epilepticus ISO RGD:733174 D RGD:9068941 20200609 RGD PMID:20026272|REF_RGD_ID:6483805 11963545 PLAU plasminogen activator, urokinase gene DOID:1936 atherosclerosis ISO RGD:733174 D RGD:9068941 20200609 RGD PMID:15096455|REF_RGD_ID:7241203 11963545 PLAU plasminogen activator, urokinase gene DOID:1936 atherosclerosis ISO RGD:735727 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic; protein:increased expression:plasma (human) PMID:17706748|REF_RGD_ID:7241201 11963545 PLAU plasminogen activator, urokinase gene DOID:2043 hepatitis B severity ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18691743|REF_RGD_ID:6483828 11963545 PLAU plasminogen activator, urokinase gene DOID:224 transient cerebral ischemia ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:19952306|REF_RGD_ID:7241795 11963545 PLAU plasminogen activator, urokinase gene DOID:224 transient cerebral ischemia ISO RGD:3343 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:21375013|REF_RGD_ID:7241584 11963545 PLAU plasminogen activator, urokinase gene DOID:2316 brain ischemia ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10472989|PMID:10512912|PMID:17927297|PMID:9731615 11963545 PLAU plasminogen activator, urokinase gene DOID:2671 transitional cell carcinoma ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14644129 11963545 PLAU plasminogen activator, urokinase gene DOID:2671 transitional cell carcinoma severity ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:urinary tract, tumor (human) PMID:15191676|REF_RGD_ID:7241280 11963545 PLAU plasminogen activator, urokinase gene DOID:2841 asthma ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21912604 11963545 PLAU plasminogen activator, urokinase gene DOID:2841 asthma ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:18519237|REF_RGD_ID:4892037 11963545 PLAU plasminogen activator, urokinase gene DOID:2983 anuria ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8225663 11963545 PLAU plasminogen activator, urokinase gene DOID:2986 IgA glomerulonephritis ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9002298 11963545 PLAU plasminogen activator, urokinase gene DOID:299 adenocarcinoma ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10467400 11963545 PLAU plasminogen activator, urokinase gene DOID:3070 high grade glioma severity ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:brain (human) PMID:7604873|REF_RGD_ID:7241260 11963545 PLAU plasminogen activator, urokinase gene DOID:3071 gliosarcoma severity ISO RGD:733174 D RGD:9068941 20200609 RGD mouse gene in rat model PMID:20606645|REF_RGD_ID:7241591 11963545 PLAU plasminogen activator, urokinase gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:17651644|REF_RGD_ID:6484146 11963545 PLAU plasminogen activator, urokinase gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:sputum, neutrophil PMID:20624254|REF_RGD_ID:6483803 11963545 PLAU plasminogen activator, urokinase gene DOID:326 ischemia ISO RGD:733174 D RGD:9068941 20200609 RGD PMID:17653104|REF_RGD_ID:6484145 11963545 PLAU plasminogen activator, urokinase gene DOID:326 ischemia ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15557913|PMID:8662173 11963545 PLAU plasminogen activator, urokinase gene DOID:3407 carotid artery disease ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10512912 11963545 PLAU plasminogen activator, urokinase gene DOID:3525 middle cerebral artery infarction ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11677890|PMID:15181847|PMID:17702958 11963545 PLAU plasminogen activator, urokinase gene DOID:3526 cerebral infarction ISO RGD:735727 D RGD:9068941 20210312 CTD CTD Direct Evidence: therapeutic PMID:12133459|PMID:16773802 11963545 PLAU plasminogen activator, urokinase gene DOID:3576 sagittal sinus thrombosis ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10668740 11963545 PLAU plasminogen activator, urokinase gene DOID:3770 pulmonary fibrosis ISO RGD:733174 D RGD:9068941 20200609 RGD PMID:12376355|REF_RGD_ID:7241206 11963545 PLAU plasminogen activator, urokinase gene DOID:3770 pulmonary fibrosis treatment ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:23327706|REF_RGD_ID:7241544 11963545 PLAU plasminogen activator, urokinase gene DOID:3770 pulmonary fibrosis treatment ISO RGD:735727 D RGD:9068941 20200609 RGD human protein in rat model PMID:7516275|REF_RGD_ID:7241204 11963545 PLAU plasminogen activator, urokinase gene DOID:3798 pleural empyema ISO RGD:735727 D RGD:9068941 20200609 RGD Gene product used in treatment of disease PMID:20304453|REF_RGD_ID:4891955 11963545 PLAU plasminogen activator, urokinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:20937265|REF_RGD_ID:4892055 11963545 PLAU plasminogen activator, urokinase gene DOID:3969 thyroid gland papillary carcinoma severity ISO RGD:735727 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid gland (human) PMID:22702340|REF_RGD_ID:7241798 11963545 PLAU plasminogen activator, urokinase gene DOID:4450 renal cell carcinoma severity ISO RGD:735727 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (human) PMID:20544684|REF_RGD_ID:7241133 11963545 PLAU plasminogen activator, urokinase gene DOID:4483 rhinitis ISO RGD:733174 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium PMID:21339035|REF_RGD_ID:8547809 11963545 PLAU plasminogen activator, urokinase gene DOID:4724 brain edema ISO RGD:3343 D RGD:9068941 20200609 RGD associated with Burns;mRNA:increased expression:brain PMID:18718505|REF_RGD_ID:6483826 11963545 PLAU plasminogen activator, urokinase gene DOID:4724 brain edema ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11677890 11963545 PLAU plasminogen activator, urokinase gene DOID:5082 liver cirrhosis ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18481824|PMID:26396155 11963545 PLAU plasminogen activator, urokinase gene DOID:5844 myocardial infarction ISO RGD:3343 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium PMID:20952728|REF_RGD_ID:6484133 11963545 PLAU plasminogen activator, urokinase gene DOID:5844 myocardial infarction ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1908371|PMID:2174952|PMID:2382605|PMID:3068399|PMID:3984876|PMID:8416330 11963545 PLAU plasminogen activator, urokinase gene DOID:5844 myocardial infarction ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:17653104|REF_RGD_ID:6484145 11963545 PLAU plasminogen activator, urokinase gene DOID:5844 myocardial infarction ISO RGD:735727 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:c.*141C>T (rs4065) (human) PMID:20518747|REF_RGD_ID:6484126 11963545 PLAU plasminogen activator, urokinase gene DOID:630 genetic disease ISO RGD:735727 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11963545 PLAU plasminogen activator, urokinase gene DOID:649 prion disease ISO RGD:733174 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:19459212|REF_RGD_ID:6483816 11963545 PLAU plasminogen activator, urokinase gene DOID:6713 cerebrovascular disease ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1265806|PMID:17308290 11963545 PLAU plasminogen activator, urokinase gene DOID:684 hepatocellular carcinoma ISO RGD:733174 D RGD:9068941 20220825 MouseDO OMIM:114550 11963545 PLAU plasminogen activator, urokinase gene DOID:783 end stage renal disease ISO RGD:3343 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:kidney (rat) PMID:15506291|REF_RGD_ID:7241279 11963545 PLAU plasminogen activator, urokinase gene DOID:783 end stage renal disease ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:19926968|REF_RGD_ID:6483806 11963545 PLAU plasminogen activator, urokinase gene DOID:783 end stage renal disease severity ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:22683425|REF_RGD_ID:7241081 11963545 PLAU plasminogen activator, urokinase gene DOID:783 end stage renal disease treatment ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:17869326|REF_RGD_ID:7241218 11963545 PLAU plasminogen activator, urokinase gene DOID:8283 peritonitis ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:18571586|REF_RGD_ID:6484139 11963545 PLAU plasminogen activator, urokinase gene DOID:8337 appendicitis ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:appendix PMID:19153874|REF_RGD_ID:6483822 11963545 PLAU plasminogen activator, urokinase gene DOID:8805 intermediate coronary syndrome ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2382605 11963545 PLAU plasminogen activator, urokinase gene DOID:9000039 Spinal Cord Injuries ISO RGD:733174 D RGD:9068941 20200609 RGD PMID:21573723|REF_RGD_ID:6483797 11963545 PLAU plasminogen activator, urokinase gene DOID:9000184 Ventricular Fibrillation ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9083243 11963545 PLAU plasminogen activator, urokinase gene DOID:9000217 Stomach Neoplasms ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11963545 PLAU plasminogen activator, urokinase gene DOID:9000310 Lung Injury ISO RGD:3343 D RGD:9068941 20200609 RGD associated with Hyperoxia PMID:19099788|REF_RGD_ID:4143526 11963545 PLAU plasminogen activator, urokinase gene DOID:9000363 Hematuria ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8225663 11963545 PLAU plasminogen activator, urokinase gene DOID:9000469 Viral Myocarditis susceptibility ISO RGD:733174 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (mouse) PMID:19246678|REF_RGD_ID:7241803 11963545 PLAU plasminogen activator, urokinase gene DOID:9000483 Angina Pectoris ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1730212 11963545 PLAU plasminogen activator, urokinase gene DOID:9000528 Coronary Disease ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1730212|PMID:9181759 11963545 PLAU plasminogen activator, urokinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16475674 11963545 PLAU plasminogen activator, urokinase gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:3343 D RGD:9068941 20200609 RGD Cavernous Nerve Injury; mRNA:increased expression:pelvic ganglion (rat) PMID:22300381|REF_RGD_ID:7241556 11963545 PLAU plasminogen activator, urokinase gene DOID:9001513 Asthenozoospermia ISO RGD:3343 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:testes, epididymis (rat) PMID:18998460|REF_RGD_ID:7241809 11963545 PLAU plasminogen activator, urokinase gene DOID:9001513 Asthenozoospermia ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18998460 11963545 PLAU plasminogen activator, urokinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11963545 PLAU plasminogen activator, urokinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:16958060|REF_RGD_ID:2317516 11963545 PLAU plasminogen activator, urokinase gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:23018346|REF_RGD_ID:7241553 11963545 PLAU plasminogen activator, urokinase gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased secretion:T lymphocyte (human) PMID:16387096|REF_RGD_ID:7241259 11963545 PLAU plasminogen activator, urokinase gene DOID:9002165 Diabetic Nephropathies ISO RGD:3343 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (rat) PMID:15322501|REF_RGD_ID:1580123 11963545 PLAU plasminogen activator, urokinase gene DOID:9002265 Kidney Neoplasms ISO RGD:735727 D RGD:9068941 20200609 RGD protein:decreased expression:kidney (human) PMID:18336603|REF_RGD_ID:7241213 11963545 PLAU plasminogen activator, urokinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11454671|PMID:16430655|PMID:17192053 11963545 PLAU plasminogen activator, urokinase gene DOID:9002457 Experimental Arthritis ISO RGD:733174 D RGD:9068941 20200609 RGD PMID:20973954|REF_RGD_ID:6483801 11963545 PLAU plasminogen activator, urokinase gene DOID:9002676 Cerebral Hemorrhage ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1265806|PMID:15181847|PMID:17702958|PMID:8025938|PMID:9731615 11963545 PLAU plasminogen activator, urokinase gene DOID:9002928 Colonic Neoplasms ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:colon, mucosa (human) PMID:3884145|REF_RGD_ID:7241262 11963545 PLAU plasminogen activator, urokinase gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:735727 D RGD:9068941 20200609 RGD human tumor cell line in mouse model PMID:19214512|REF_RGD_ID:7241805 11963545 PLAU plasminogen activator, urokinase gene DOID:9003023 Heart Rupture, Post-Infarction ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9403446 11963545 PLAU plasminogen activator, urokinase gene DOID:9003104 Intracranial Hemorrhages ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:21779364|REF_RGD_ID:6484131 11963545 PLAU plasminogen activator, urokinase gene DOID:9003104 Intracranial Hemorrhages ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10392865|PMID:10472989|PMID:10512912|PMID:17308290 11963545 PLAU plasminogen activator, urokinase gene DOID:9003121 Thromboembolism ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3718210 11963545 PLAU plasminogen activator, urokinase gene DOID:9003230 Graft Occlusion, Vascular ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10392865|PMID:11041470|PMID:8025938|PMID:8416330 11963545 PLAU plasminogen activator, urokinase gene DOID:9003369 Strongylida Infections ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:18022622|REF_RGD_ID:6484141 11963545 PLAU plasminogen activator, urokinase gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:19587273|REF_RGD_ID:2316117 11963545 PLAU plasminogen activator, urokinase gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:3343 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:hippocampus (rat) PMID:18467699|REF_RGD_ID:6483831 11963545 PLAU plasminogen activator, urokinase gene DOID:9003871 Venous Thrombosis ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15557913|PMID:3161212|PMID:3488869|PMID:6359570 11963545 PLAU plasminogen activator, urokinase gene DOID:9003936 Cardiomegaly treatment ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:22160250|REF_RGD_ID:7241558 11963545 PLAU plasminogen activator, urokinase gene DOID:9004009 Reperfusion Injury ISO RGD:3343 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (rat) PMID:19663807|REF_RGD_ID:6483808 11963545 PLAU plasminogen activator, urokinase gene DOID:9004009 Reperfusion Injury ISO RGD:733174 D RGD:9068941 20200609 RGD PMID:18586014|REF_RGD_ID:6483830 11963545 PLAU plasminogen activator, urokinase gene DOID:9004009 Reperfusion Injury ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15181847 11963545 PLAU plasminogen activator, urokinase gene DOID:9004017 Chronic Hepatitis C ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:19628656|REF_RGD_ID:6483809 11963545 PLAU plasminogen activator, urokinase gene DOID:9004283 Transplant Rejection ISO RGD:735727 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (human) PMID:14531820|REF_RGD_ID:7241140 11963545 PLAU plasminogen activator, urokinase gene DOID:9004389 Bone Neoplasms ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16475674 11963545 PLAU plasminogen activator, urokinase gene DOID:9004484 Sepsis disease_progression ISO RGD:735727 D RGD:9068941 20200609 RGD Pneumonia associated sepsis PMID:21219633|REF_RGD_ID:4891938 11963545 PLAU plasminogen activator, urokinase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14644129|PMID:26284488 11963545 PLAU plasminogen activator, urokinase gene DOID:9004610 Acute Lung Injury ISO RGD:3343 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:21473829|REF_RGD_ID:5147760 11963545 PLAU plasminogen activator, urokinase gene DOID:9004610 Acute Lung Injury treatment ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:23324284|REF_RGD_ID:7241552 11963545 PLAU plasminogen activator, urokinase gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:733174 D RGD:9068941 20200609 RGD PMID:15631996|REF_RGD_ID:7241205 11963545 PLAU plasminogen activator, urokinase gene DOID:9004816 Jaw Cysts severity ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:cyst, liquid (human) PMID:20646237|REF_RGD_ID:6484123 11963545 PLAU plasminogen activator, urokinase gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16430655 11963545 PLAU plasminogen activator, urokinase gene DOID:9005172 Lung Neoplasms severity ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:tumor, cytoplasm (human) PMID:2054790|REF_RGD_ID:7241261 11963545 PLAU plasminogen activator, urokinase gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:18052026|REF_RGD_ID:6484140 11963545 PLAU plasminogen activator, urokinase gene DOID:9005372 Inflammation ISO RGD:733174 D RGD:9068941 20200609 RGD PMID:20466854|REF_RGD_ID:6484127 11963545 PLAU plasminogen activator, urokinase gene DOID:9005372 Inflammation ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:20646237|REF_RGD_ID:6484123 11963545 PLAU plasminogen activator, urokinase gene DOID:9005520 Genitopatellar Syndrome ISO RGD:735727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:28492532 11963545 PLAU plasminogen activator, urokinase gene DOID:9005741 Intracranial Embolism and Thrombosis ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9403446 11963545 PLAU plasminogen activator, urokinase gene DOID:9006024 Hypotension ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10392865 11963545 PLAU plasminogen activator, urokinase gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15557913|PMID:1713745|PMID:9181759|PMID:9731615 11963545 PLAU plasminogen activator, urokinase gene DOID:9007096 Stroke ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12742636 11963545 PLAU plasminogen activator, urokinase gene DOID:9007356 Eczema ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:19416247|REF_RGD_ID:6483821 11963545 PLAU plasminogen activator, urokinase gene DOID:9007364 Mouth Neoplasms ISO RGD:735727 D RGD:9068941 20200609 RGD DNA:snp:3' utr:g.4065C>T (human) PMID:15356878|REF_RGD_ID:7241146 11963545 PLAU plasminogen activator, urokinase gene DOID:9007480 Hyperoxia ISO RGD:3343 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:lung (rat) PMID:19099788|REF_RGD_ID:4143526 11963545 PLAU plasminogen activator, urokinase gene DOID:9008091 Optic Nerve Injuries ISO RGD:3343 D RGD:9068941 20200609 RGD mRNA:increased expression:optic nerve (rat) PMID:20798533|REF_RGD_ID:6483802 11963545 PLAU plasminogen activator, urokinase gene DOID:9008217 Hemorrhage ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15502123|PMID:15557913|PMID:8225663|PMID:9266785 11963545 PLAU plasminogen activator, urokinase gene DOID:9452 fatty liver disease ISO RGD:733174 D RGD:9068941 20220825 MouseDO OMIM:228100 11963545 PLAU plasminogen activator, urokinase gene DOID:9471 meningitis ISO RGD:735727 D RGD:9068941 20200609 RGD associated with Angiostrongyliasis PMID:20584616|REF_RGD_ID:6484124 11963545 PLAU plasminogen activator, urokinase gene DOID:9477 pulmonary embolism ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1098216|PMID:11041470|PMID:4430106|PMID:4884574|PMID:9038699|PMID:9266785 11963545 PLAU plasminogen activator, urokinase gene DOID:988 mitral valve prolapse ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:15262029|REF_RGD_ID:1580896 11963545 Plau plasminogen activator, urokinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3343 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:20035854|REF_RGD_ID:6484134 11963569 PSMD8 proteasome 26S subunit, non-ATPase 8 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1320403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11963569 PSMD8 proteasome 26S subunit, non-ATPase 8 gene DOID:630 genetic disease ISO RGD:1320403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963580 EPB41L4B erythrocyte membrane protein band 4.1 like 4B gene DOID:630 genetic disease ISO RGD:1320612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963610 TSC22D4 TSC22 domain family member 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11963610 TSC22D4 TSC22 domain family member 4 gene DOID:630 genetic disease ISO RGD:1601955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963619 MTREX Mtr4 exosome RNA helicase gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1606819 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood lymphocyte (human) PMID:23006766|REF_RGD_ID:11041891 11963619 MTREX Mtr4 exosome RNA helicase gene DOID:630 genetic disease ISO RGD:1606819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963619 MTREX Mtr4 exosome RNA helicase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11963619 MTREX Mtr4 exosome RNA helicase gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1606819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11963650 SERPINB7 serpin family B member 7 gene DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies ISO RGD:736732 D RGD:9068941 20200609 RGD PMID:16782060|REF_RGD_ID:7207386 11963650 SERPINB7 serpin family B member 7 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:736732 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11963650 SERPINB7 serpin family B member 7 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:736732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 11963650 SERPINB7 serpin family B member 7 gene DOID:10952 nephritis ISO RGD:71063 D RGD:9068941 20200609 RGD PMID:11473647|REF_RGD_ID:70611 11963650 SERPINB7 serpin family B member 7 gene DOID:2986 IgA glomerulonephritis ISO RGD:736732 D RGD:9068941 20200609 RGD DNA:SNP:5' utr, exon:267G>A (human) PMID:16796905|REF_RGD_ID:7207380 11963650 SERPINB7 serpin family B member 7 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:736732 D RGD:9068941 20200609 RGD DNA:SNP: :23167A>G (human) PMID:16550745|REF_RGD_ID:7207372 11963650 SERPINB7 serpin family B member 7 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:736732 D RGD:9068941 20200609 RGD DNA:SNPs:3' utr:2093C>T, 2180C>T (human) PMID:18793525|REF_RGD_ID:7207366 11963650 SERPINB7 serpin family B member 7 gene DOID:630 genetic disease ISO RGD:736732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11963650 SERPINB7 serpin family B member 7 gene DOID:9000205 Palmoplantar Keratoderma, Nagashima Type ISO RGD:736732 D RGD:7240710 20180130 OMIM 11963650 SERPINB7 serpin family B member 7 gene DOID:9000205 Palmoplantar Keratoderma, Nagashima Type ISO RGD:736732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma, Nagashima type PMID:24207119|PMID:24514002|PMID:24773080|PMID:25741868|PMID:27543371|PMID:27666198|PMID:28492532 11963650 SERPINB7 serpin family B member 7 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736732 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1 PMID:16443768|REF_RGD_ID:7207374 11963650 SERPINB7 serpin family B member 7 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736732 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP:intron:rs1720843 (human) PMID:19690890|REF_RGD_ID:7207378 11963669 ASAP2 ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 gene DOID:630 genetic disease ISO RGD:1313189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963702 KIF3A kinesin family member 3A gene DOID:0080006 bone development disease ISO RGD:1352051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17698054 11963702 KIF3A kinesin family member 3A gene DOID:0080322 polycystic kidney disease ISO RGD:1552608 D RGD:9068941 20220825 MouseDO 11963702 KIF3A kinesin family member 3A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1352051 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11963702 KIF3A kinesin family member 3A gene DOID:0080600 COVID-19 ISO RGD:1352051 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11963702 KIF3A kinesin family member 3A gene DOID:10325 silicosis ISO RGD:1352051 D RGD:9068941 20230105 RGD protein:increased expression:respiratory system fluid/secretion: PMID:32042332|REF_RGD_ID:155791682 11963702 KIF3A kinesin family member 3A gene DOID:10325 silicosis ISO RGD:621536 D RGD:9068941 20230105 RGD protein:decreased expression:lung PMID:32042332|REF_RGD_ID:155791682 11963702 KIF3A kinesin family member 3A gene DOID:1148 polydactyly ISO RGD:1352051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17698054 11963702 KIF3A kinesin family member 3A gene DOID:1934 dysostosis ISO RGD:1552608 D RGD:9068941 20220825 MouseDO 11963702 KIF3A kinesin family member 3A gene DOID:2841 asthma ISO RGD:1352051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21912604 11963702 KIF3A kinesin family member 3A gene DOID:630 genetic disease ISO RGD:1352051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963702 KIF3A kinesin family member 3A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11963702 KIF3A kinesin family member 3A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352051 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11963702 KIF3A kinesin family member 3A gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1352051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17698054 11963702 KIF3A kinesin family member 3A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11963735 PDXDC1 pyridoxal dependent decarboxylase domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1604634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11963735 PDXDC1 pyridoxal dependent decarboxylase domain containing 1 gene DOID:1826 epilepsy ISO RGD:1604634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11963735 PDXDC1 pyridoxal dependent decarboxylase domain containing 1 gene DOID:4450 renal cell carcinoma ISO RGD:1604634 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 11963735 PDXDC1 pyridoxal dependent decarboxylase domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1604634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11963735 PDXDC1 pyridoxal dependent decarboxylase domain containing 1 gene DOID:630 genetic disease ISO RGD:1604634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963737 APLF aprataxin and PNKP like factor gene DOID:630 genetic disease ISO RGD:1344091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963764 RAD23B RAD23 homolog B, nucleotide excision repair protein gene DOID:12336 male infertility ISO RGD:1351559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11809813 11963764 RAD23B RAD23 homolog B, nucleotide excision repair protein gene DOID:630 genetic disease ISO RGD:1351559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963764 RAD23B RAD23 homolog B, nucleotide excision repair protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 11963764 RAD23B RAD23 homolog B, nucleotide excision repair protein gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1351559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11809813 11963778 GPSM3 G protein signaling modulator 3 gene DOID:0050553 JMP syndrome ISO RGD:1343729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11963778 GPSM3 G protein signaling modulator 3 gene DOID:630 genetic disease ISO RGD:1343729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963795 ZNF81 zinc finger protein 81 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1349324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability 11963795 ZNF81 zinc finger protein 81 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11963795 ZNF81 zinc finger protein 81 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1349324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 11963795 ZNF81 zinc finger protein 81 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1349324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11963795 ZNF81 zinc finger protein 81 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1349324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11963795 ZNF81 zinc finger protein 81 gene DOID:0112028 non-syndromic X-linked intellectual disability 45 ISO RGD:1349324 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked 45 PMID:10398246|PMID:15121780 11963795 ZNF81 zinc finger protein 81 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1349324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11963795 ZNF81 zinc finger protein 81 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1349324 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 11963795 ZNF81 zinc finger protein 81 gene DOID:12849 autistic disorder ISO RGD:1349324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11963795 ZNF81 zinc finger protein 81 gene DOID:630 genetic disease ISO RGD:1349324 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868 11963811 AKNAD1 AKNA domain containing 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1604964 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11963811 AKNAD1 AKNA domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1604964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11963811 AKNAD1 AKNA domain containing 1 gene DOID:630 genetic disease ISO RGD:1604964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963860 ADAM21 ADAM metallopeptidase domain 21 gene DOID:630 genetic disease ISO RGD:1314846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963866 NELL2 neural EGFL like 2 gene DOID:630 genetic disease ISO RGD:732316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963914 RAP2A RAP2A, member of RAS oncogene family gene DOID:0110878 holoprosencephaly 5 ISO RGD:1348992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 11963914 RAP2A RAP2A, member of RAS oncogene family gene DOID:630 genetic disease ISO RGD:1348992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963914 RAP2A RAP2A, member of RAS oncogene family gene DOID:7148 rheumatoid arthritis ISO RGD:1348992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 11963914 RAP2A RAP2A, member of RAS oncogene family gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1348992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11963926 ZDHHC19 zinc finger DHHC-type palmitoyltransferase 19 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1346417 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 11963926 ZDHHC19 zinc finger DHHC-type palmitoyltransferase 19 gene DOID:12849 autistic disorder ISO RGD:1346417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11963926 ZDHHC19 zinc finger DHHC-type palmitoyltransferase 19 gene DOID:5419 schizophrenia ISO RGD:1346417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11963926 ZDHHC19 zinc finger DHHC-type palmitoyltransferase 19 gene DOID:630 genetic disease ISO RGD:1346417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963962 ADAM15 ADAM metallopeptidase domain 15 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:733223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11963962 ADAM15 ADAM metallopeptidase domain 15 gene DOID:0080600 COVID-19 ISO RGD:733223 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11963962 ADAM15 ADAM metallopeptidase domain 15 gene DOID:0111940 immunodeficiency 42 ISO RGD:733223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11963962 ADAM15 ADAM metallopeptidase domain 15 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:733223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11963962 ADAM15 ADAM metallopeptidase domain 15 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:733223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11963962 ADAM15 ADAM metallopeptidase domain 15 gene DOID:1540 parathyroid carcinoma ISO RGD:733223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11963962 ADAM15 ADAM metallopeptidase domain 15 gene DOID:1793 pancreatic cancer ISO RGD:733223 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas, epithelial cell PMID:17465204|REF_RGD_ID:2325247 11963962 ADAM15 ADAM metallopeptidase domain 15 gene DOID:5812 MHC class II deficiency ISO RGD:733223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11963962 ADAM15 ADAM metallopeptidase domain 15 gene DOID:630 genetic disease ISO RGD:733223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11963962 ADAM15 ADAM metallopeptidase domain 15 gene DOID:8398 osteoarthritis ISO RGD:733224 D RGD:9068941 20200609 RGD PMID:15818704|REF_RGD_ID:1559176 11963962 ADAM15 ADAM metallopeptidase domain 15 gene DOID:9004756 Brain Hypoxia ISO RGD:620402 D RGD:9068941 20200609 RGD PMID:22230263|REF_RGD_ID:13703065 11963962 ADAM15 ADAM metallopeptidase domain 15 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11964014 KLC4 kinesin light chain 4 gene DOID:0050444 infantile Refsum disease ISO RGD:1315239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11964014 KLC4 kinesin light chain 4 gene DOID:630 genetic disease ISO RGD:1315239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964014 KLC4 kinesin light chain 4 gene DOID:905 Zellweger syndrome ISO RGD:1315239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11964038 EBP EBP cholestenol delta-isomerase gene DOID:0060292 X-linked chondrodysplasia punctata 1 ISO RGD:733162 D RGD:9068941 20220825 MouseDO OMIM:302950 | OMIM:302960 11964038 EBP EBP cholestenol delta-isomerase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11964038 EBP EBP cholestenol delta-isomerase gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1345811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 11964038 EBP EBP cholestenol delta-isomerase gene DOID:0080352 X-linked chondrodysplasia punctata 2 ISO RGD:1345811 D RGD:7240710 20180130 OMIM 11964038 EBP EBP cholestenol delta-isomerase gene DOID:0080352 X-linked chondrodysplasia punctata 2 ISO RGD:1345811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chondrodysplasia punctata 2 X-linked dominant | ClinVar Annotator: match by term: Chondrodysplasia punctata 2, X-linked dominant, atypical PMID:10391218|PMID:10391219|PMID:10710233|PMID:10942423|PMID:11038443|PMID:11493318|PMID:11982764|PMID:12483303|PMID:12503102|PMID:12509714|PMID:1355069|PMID:15368506|PMID:17625999|PMID:18414213|PMID:20949533|PMID:22121851|PMID:22229330|PMID:24726177|PMID:24915996|PMID:25741868|PMID:26075358|PMID:28492532|PMID:29851033|PMID:30098249|PMID:7677157 11964038 EBP EBP cholestenol delta-isomerase gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1345811 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11964038 EBP EBP cholestenol delta-isomerase gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1345811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11964038 EBP EBP cholestenol delta-isomerase gene DOID:0111865 MEND syndrome ISO RGD:1345811 D RGD:7240710 20180130 OMIM 11964038 EBP EBP cholestenol delta-isomerase gene DOID:0111865 MEND syndrome ISO RGD:1345811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MEND syndrome PMID:11038443|PMID:12503101|PMID:12966533|PMID:18414213|PMID:20949533|PMID:23307567|PMID:24459067|PMID:24700572|PMID:25741868|PMID:28492532 11964038 EBP EBP cholestenol delta-isomerase gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1345811 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11964038 EBP EBP cholestenol delta-isomerase gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1345811 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 11964038 EBP EBP cholestenol delta-isomerase gene DOID:12849 autistic disorder ISO RGD:1345811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11964038 EBP EBP cholestenol delta-isomerase gene DOID:2581 chondrodysplasia punctata ISO RGD:1345811 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18176751 11964038 EBP EBP cholestenol delta-isomerase gene DOID:2581 chondrodysplasia punctata ISO RGD:1345811 D RGD:9068941 20200609 RGD CDPX2, OMIM:302960;DNA:point mutation:exon:W29X, R63X PMID:10391218|REF_RGD_ID:734908 11964038 EBP EBP cholestenol delta-isomerase gene DOID:2581 chondrodysplasia punctata ISO RGD:733162 D RGD:9068941 20200609 RGD PMID:10391218|REF_RGD_ID:734908 11964038 EBP EBP cholestenol delta-isomerase gene DOID:630 genetic disease ISO RGD:1345811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12509714|PMID:25741868|PMID:28492532 11964038 EBP EBP cholestenol delta-isomerase gene DOID:65 connective tissue disease ISO RGD:1345811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:10391219|PMID:11038443|PMID:12503102|PMID:12509714|PMID:18414213|PMID:25741868|PMID:28492532 11964038 EBP EBP cholestenol delta-isomerase gene DOID:9008582 Developmental Disease ISO RGD:1345811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11964045 ALKBH6 alkB homolog 6 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1605913 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11964045 ALKBH6 alkB homolog 6 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1605913 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11964045 ALKBH6 alkB homolog 6 gene DOID:630 genetic disease ISO RGD:1605913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964075 KIAA1210 KIAA1210 ortholog gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:2301934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11964075 KIAA1210 KIAA1210 ortholog gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:2301934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 11964075 KIAA1210 KIAA1210 ortholog gene DOID:12849 autistic disorder ISO RGD:2301934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11964075 KIAA1210 KIAA1210 ortholog gene DOID:630 genetic disease ISO RGD:2301934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11964092 VENTX VENT homeobox gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1354153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11964092 VENTX VENT homeobox gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1354153 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30431698 11964092 VENTX VENT homeobox gene DOID:630 genetic disease ISO RGD:1354153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964125 RAPGEF6 Rap guanine nucleotide exchange factor 6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1316955 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11964125 RAPGEF6 Rap guanine nucleotide exchange factor 6 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1316955 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:28492532 11964125 RAPGEF6 Rap guanine nucleotide exchange factor 6 gene DOID:5419 schizophrenia ISO RGD:1316955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11964125 RAPGEF6 Rap guanine nucleotide exchange factor 6 gene DOID:630 genetic disease ISO RGD:1316955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964125 RAPGEF6 Rap guanine nucleotide exchange factor 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11964125 RAPGEF6 Rap guanine nucleotide exchange factor 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316955 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11964175 TTK TTK protein kinase gene DOID:0080600 COVID-19 ISO RGD:1313655 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11964175 TTK TTK protein kinase gene DOID:11612 polycystic ovary syndrome ISO RGD:1313655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11964175 TTK TTK protein kinase gene DOID:630 genetic disease ISO RGD:1313655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964175 TTK TTK protein kinase gene DOID:684 hepatocellular carcinoma ISO RGD:1313655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11964175 TTK TTK protein kinase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1313655 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 11964175 TTK TTK protein kinase gene DOID:9003100 Pancreatic Neoplasms ISO RGD:1313655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic neoplasm PMID:20581473 11964175 TTK TTK protein kinase gene DOID:9269 maple syrup urine disease ISO RGD:1313655 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:16786533|PMID:22593002|PMID:24571530|PMID:28492532 11964209 REXO1 RNA exonuclease 1 homolog gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1320447 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 11964209 REXO1 RNA exonuclease 1 homolog gene DOID:11612 polycystic ovary syndrome ISO RGD:1320447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11964209 REXO1 RNA exonuclease 1 homolog gene DOID:5339 cyclic hematopoiesis ISO RGD:1320447 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11964209 REXO1 RNA exonuclease 1 homolog gene DOID:630 genetic disease ISO RGD:1320447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964209 REXO1 RNA exonuclease 1 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11964228 SLC4A1AP solute carrier family 4 member 1 adaptor protein gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1316058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11964228 SLC4A1AP solute carrier family 4 member 1 adaptor protein gene DOID:630 genetic disease ISO RGD:1316058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964246 RYR3 ryanodine receptor 3 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:69015 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868|PMID:28492532 11964246 RYR3 ryanodine receptor 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:69015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 11964246 RYR3 ryanodine receptor 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:69015 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy PMID:28492532 11964246 RYR3 ryanodine receptor 3 gene DOID:13938 amenorrhea ISO RGD:69015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11964246 RYR3 ryanodine receptor 3 gene DOID:1826 epilepsy ISO RGD:69015 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11964246 RYR3 ryanodine receptor 3 gene DOID:2717 Bloom syndrome ISO RGD:69015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11964246 RYR3 ryanodine receptor 3 gene DOID:5426 primary ovarian insufficiency ISO RGD:69015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868|PMID:28492532 11964246 RYR3 ryanodine receptor 3 gene DOID:630 genetic disease ISO RGD:69015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10664581|PMID:25741868|PMID:28492532 11964246 RYR3 ryanodine receptor 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:69015 D RGD:9068941 20230128 RGD DNA:SNP:3'UTR:rs1044129(human) PMID:26309413|REF_RGD_ID:155882454 11964246 RYR3 ryanodine receptor 3 gene DOID:9001793 Generalized Epilepsy ISO RGD:69015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:25262651|PMID:25640679|PMID:25741868|PMID:28492532|PMID:29498452|PMID:31230720|PMID:9536098 11964246 RYR3 ryanodine receptor 3 gene DOID:9006540 Congenital Myopathy 20 ISO RGD:69015 D RGD:7240710 20230505 OMIM 11964246 RYR3 ryanodine receptor 3 gene DOID:9006540 Congenital Myopathy 20 ISO RGD:69015 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital myopathy 20 PMID:28492532|PMID:29498452|PMID:31230720 11964246 RYR3 ryanodine receptor 3 gene DOID:9006836 Contracture ISO RGD:69015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Contractures PMID:28492532|PMID:29498452|PMID:31230720 11964246 RYR3 ryanodine receptor 3 gene DOID:9008386 Hydrops Fetalis ISO RGD:69015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrops fetalis PMID:25741868 11964246 RYR3 ryanodine receptor 3 gene DOID:9256 colorectal cancer ISO RGD:69015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11964246 RYR3 ryanodine receptor 3 gene DOID:9256 colorectal cancer ISO RGD:69015 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 11964354 SRCIN1 SRC kinase signaling inhibitor 1 gene DOID:630 genetic disease ISO RGD:1606779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964354 SRCIN1 SRC kinase signaling inhibitor 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1606779 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27506785 11964408 BARHL2 BarH like homeobox 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1344726 D RGD:9068941 20200609 RGD protein:decreased expression:mouth mucosa PMID:27542258|REF_RGD_ID:14390167 11964408 BARHL2 BarH like homeobox 2 gene DOID:10534 stomach cancer treatment ISO RGD:1344726 D RGD:9068941 20200609 RGD PMID:27441821|REF_RGD_ID:14392685 11964408 BARHL2 BarH like homeobox 2 gene DOID:630 genetic disease ISO RGD:1344726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964408 BARHL2 BarH like homeobox 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1344726 D RGD:9068941 20200609 RGD associated with oral squamous cell carcinoma; mRNA:decreased expression:mouth mucosa PMID:27542258|REF_RGD_ID:14390167 11964408 BARHL2 BarH like homeobox 2 gene DOID:9256 colorectal cancer severity ISO RGD:1344726 D RGD:9068941 20200609 RGD PMID:27453340|REF_RGD_ID:14392684 11964423 STXBP3 syntaxin binding protein 3 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:732509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11964423 STXBP3 syntaxin binding protein 3 gene DOID:0112045 non-syndromic X-linked intellectual disability 93 ISO RGD:732509 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 93 PMID:25741868 11964423 STXBP3 syntaxin binding protein 3 gene DOID:12849 autistic disorder ISO RGD:732509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11964423 STXBP3 syntaxin binding protein 3 gene DOID:630 genetic disease ISO RGD:732509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964445 HSP90AB1 heat shock protein 90 alpha family class B member 1 gene DOID:2377 multiple sclerosis ISO RGD:1346893 D RGD:9068941 20200609 RGD PMID:14688203|REF_RGD_ID:5686803 11964445 HSP90AB1 heat shock protein 90 alpha family class B member 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1303075 D RGD:9068941 20200609 RGD protein:decreased expression:lung (rat) PMID:24670792|REF_RGD_ID:10445835 11964445 HSP90AB1 heat shock protein 90 alpha family class B member 1 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1346893 D RGD:9068941 20220519 RGD protein:increased expression:liver (human) PMID:24796583|REF_RGD_ID:152177907 11964445 HSP90AB1 heat shock protein 90 alpha family class B member 1 gene DOID:4989 pancreatitis ISO RGD:1303075 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:19346995|REF_RGD_ID:5686868 11964445 HSP90AB1 heat shock protein 90 alpha family class B member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1346893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11964445 HSP90AB1 heat shock protein 90 alpha family class B member 1 gene DOID:630 genetic disease ISO RGD:1346893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964445 HSP90AB1 heat shock protein 90 alpha family class B member 1 gene DOID:767 muscular atrophy ISO RGD:1303075 D RGD:9068941 20200609 RGD mRNA:decreased expression:soleus muscle (rat) PMID:21639837|REF_RGD_ID:5686383 11964445 HSP90AB1 heat shock protein 90 alpha family class B member 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1303075 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord (rat) PMID:24499940|REF_RGD_ID:10445836 11964445 HSP90AB1 heat shock protein 90 alpha family class B member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 11964445 HSP90AB1 heat shock protein 90 alpha family class B member 1 gene DOID:9007456 Female Infertility ISO RGD:1346893 D RGD:9068941 20200609 RGD PMID:19022436|REF_RGD_ID:10445839 11964461 CCNB3 cyclin B3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11964461 CCNB3 cyclin B3 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1352366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 11964461 CCNB3 cyclin B3 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1352366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11964461 CCNB3 cyclin B3 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1352366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11964461 CCNB3 cyclin B3 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1352366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11964461 CCNB3 cyclin B3 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1352366 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 11964461 CCNB3 cyclin B3 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1352366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 11964461 CCNB3 cyclin B3 gene DOID:12849 autistic disorder ISO RGD:1352366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11964461 CCNB3 cyclin B3 gene DOID:3347 osteosarcoma ISO RGD:1352366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22387997 11964461 CCNB3 cyclin B3 gene DOID:630 genetic disease ISO RGD:1352366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964461 CCNB3 cyclin B3 gene DOID:9007479 Habitual Abortions ISO RGD:1352366 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 1 11964478 SLC38A2 solute carrier family 38 member 2 gene DOID:11832 visual epilepsy ISO RGD:69420 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:21138736|REF_RGD_ID:9999229 11964478 SLC38A2 solute carrier family 38 member 2 gene DOID:630 genetic disease ISO RGD:736694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964478 SLC38A2 solute carrier family 38 member 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:69420 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:placenta PMID:21812961|REF_RGD_ID:9999212 11964478 SLC38A2 solute carrier family 38 member 2 gene DOID:9004484 Sepsis ISO RGD:69420 D RGD:9068941 20200609 RGD PMID:20338592|REF_RGD_ID:9999218 11964478 SLC38A2 solute carrier family 38 member 2 gene DOID:9005166 Contusions ISO RGD:69420 D RGD:9068941 20200609 RGD PMID:24045877|REF_RGD_ID:9999219 11964478 SLC38A2 solute carrier family 38 member 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69420 D RGD:9068941 20200609 RGD PMID:11798158|REF_RGD_ID:9999213 11964501 ACKR1 atypical chemokine receptor 1 (Duffy blood group) gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1347611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11964501 ACKR1 atypical chemokine receptor 1 (Duffy blood group) gene DOID:12365 malaria ISO RGD:1347611 D RGD:7240710 20230505 OMIM 11964501 ACKR1 atypical chemokine receptor 1 (Duffy blood group) gene DOID:12365 malaria ISO RGD:1347611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Plasmodium vivax, resistance to PMID:10570183|PMID:10791881|PMID:17304246|PMID:18179887|PMID:18621010|PMID:19180233|PMID:19620399|PMID:20932074|PMID:7663520|PMID:8547665|PMID:8651934 11964501 ACKR1 atypical chemokine receptor 1 (Duffy blood group) gene DOID:12978 Plasmodium vivax malaria ISO RGD:1347611 D RGD:7240710 20200527 OMIM 11964501 ACKR1 atypical chemokine receptor 1 (Duffy blood group) gene DOID:12978 Plasmodium vivax malaria ISO RGD:1347611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Resistance to Plasmodium vivax infection PMID:10570183|PMID:10791881|PMID:17304246|PMID:18179887|PMID:18621010|PMID:19180233|PMID:19620399|PMID:20932074|PMID:7663520|PMID:8547665|PMID:8651934 11964501 ACKR1 atypical chemokine receptor 1 (Duffy blood group) gene DOID:1540 parathyroid carcinoma ISO RGD:1347611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11964501 ACKR1 atypical chemokine receptor 1 (Duffy blood group) gene DOID:630 genetic disease ISO RGD:1347611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964501 ACKR1 atypical chemokine receptor 1 (Duffy blood group) gene DOID:9005605 Arteriovenous Fistula ISO RGD:1596198 D RGD:9068941 20200609 RGD PMID:24429330|REF_RGD_ID:9681736 11964501 ACKR1 atypical chemokine receptor 1 (Duffy blood group) gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11964507 TMEM126B transmembrane protein 126B gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1603632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 11964507 TMEM126B transmembrane protein 126B gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1603632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 11964507 TMEM126B transmembrane protein 126B gene DOID:0112084 nuclear type mitochondrial complex I deficiency 29 ISO RGD:1603632 D RGD:7240710 20190315 OMIM 11964507 TMEM126B transmembrane protein 126B gene DOID:0112084 nuclear type mitochondrial complex I deficiency 29 ISO RGD:1603632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 PMID:25741868|PMID:27290639|PMID:27374773|PMID:27374774|PMID:28492532|PMID:29093663|PMID:30369941|PMID:31658717 11964507 TMEM126B transmembrane protein 126B gene DOID:1059 intellectual disability ISO RGD:1603632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11964507 TMEM126B transmembrane protein 126B gene DOID:630 genetic disease ISO RGD:1603632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11964507 TMEM126B transmembrane protein 126B gene DOID:700 mitochondrial metabolism disease ISO RGD:1603632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:25741868|PMID:27290639|PMID:27374773|PMID:27374774|PMID:28492532|PMID:29093663|PMID:30369941|PMID:31658717 11964527 RAP2C RAP2C, member of RAS oncogene family gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11964527 RAP2C RAP2C, member of RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:1353605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11964538 MYOM2 myomesin 2 gene DOID:630 genetic disease ISO RGD:1343651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964538 MYOM2 myomesin 2 gene DOID:9006836 Contracture ISO RGD:1343651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 11964583 MGARP mitochondria localized glutamic acid rich protein gene DOID:630 genetic disease ISO RGD:1603194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964583 MGARP mitochondria localized glutamic acid rich protein gene DOID:7148 rheumatoid arthritis ISO RGD:1603194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 11964591 ECPAS Ecm29 proteasome adaptor and scaffold gene DOID:630 genetic disease ISO RGD:1314598 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964644 FBXL16 F-box and leucine rich repeat protein 16 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1319294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 11964644 FBXL16 F-box and leucine rich repeat protein 16 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1319294 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11964644 FBXL16 F-box and leucine rich repeat protein 16 gene DOID:1826 epilepsy ISO RGD:1319294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11964644 FBXL16 F-box and leucine rich repeat protein 16 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11964644 FBXL16 F-box and leucine rich repeat protein 16 gene DOID:630 genetic disease ISO RGD:1319294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964652 SIGLEC11 sialic acid binding Ig like lectin 11 gene DOID:0080600 COVID-19 ISO RGD:1354413 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11964652 SIGLEC11 sialic acid binding Ig like lectin 11 gene DOID:630 genetic disease ISO RGD:1354413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964669 HNRNPL heterogeneous nuclear ribonucleoprotein L gene DOID:0050457 Sertoli cell-only syndrome ISO RGD:737263 D RGD:9068941 20200609 RGD protein:decreased expression:testis (human) PMID:22245417|REF_RGD_ID:9999426 11964669 HNRNPL heterogeneous nuclear ribonucleoprotein L gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:737263 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11964669 HNRNPL heterogeneous nuclear ribonucleoprotein L gene DOID:1319 brain cancer susceptibility ISO RGD:737263 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;mRNA:decreased expression:bone marrow (human) PMID:15543619|REF_RGD_ID:10002773 11964669 HNRNPL heterogeneous nuclear ribonucleoprotein L gene DOID:1324 lung cancer severity ISO RGD:737263 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:20972334|REF_RGD_ID:9999427 11964669 HNRNPL heterogeneous nuclear ribonucleoprotein L gene DOID:418 systemic scleroderma ISO RGD:737263 D RGD:9068941 20200609 RGD PMID:21569507|REF_RGD_ID:9999440 11964669 HNRNPL heterogeneous nuclear ribonucleoprotein L gene DOID:630 genetic disease ISO RGD:737263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964669 HNRNPL heterogeneous nuclear ribonucleoprotein L gene DOID:684 hepatocellular carcinoma ISO RGD:737263 D RGD:9068941 20200609 RGD associated with Hepatitis B PMID:24125732|REF_RGD_ID:9999429 11964669 HNRNPL heterogeneous nuclear ribonucleoprotein L gene DOID:9000217 Stomach Neoplasms ISO RGD:737263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11964669 HNRNPL heterogeneous nuclear ribonucleoprotein L gene DOID:9000918 Disease Progression ISO RGD:737263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11964669 HNRNPL heterogeneous nuclear ribonucleoprotein L gene DOID:9008939 Breast Neoplasms ISO RGD:737263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 11964669 HNRNPL heterogeneous nuclear ribonucleoprotein L gene DOID:9352 type 2 diabetes mellitus ISO RGD:737263 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11964692 MRPS35 mitochondrial ribosomal protein S35 gene DOID:630 genetic disease ISO RGD:1315499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964706 ITM2C integral membrane protein 2C gene DOID:0060476 Perlman syndrome ISO RGD:1319877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11964706 ITM2C integral membrane protein 2C gene DOID:0110991 Joubert syndrome 22 ISO RGD:1319877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11964706 ITM2C integral membrane protein 2C gene DOID:630 genetic disease ISO RGD:1319877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964715 TRIM13 tripartite motif containing 13 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1316901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11964715 TRIM13 tripartite motif containing 13 gene DOID:1059 intellectual disability ISO RGD:1316901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11964715 TRIM13 tripartite motif containing 13 gene DOID:630 genetic disease ISO RGD:1316901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964740 DQX1 DEAQ-box RNA dependent ATPase 1 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1312375 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11964740 DQX1 DEAQ-box RNA dependent ATPase 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1312375 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 11964740 DQX1 DEAQ-box RNA dependent ATPase 1 gene DOID:543 dystonia ISO RGD:1312375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11964740 DQX1 DEAQ-box RNA dependent ATPase 1 gene DOID:630 genetic disease ISO RGD:1312375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964740 DQX1 DEAQ-box RNA dependent ATPase 1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1312375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11964759 RAB39A RAB39A, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1322661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11964759 RAB39A RAB39A, member RAS oncogene family gene DOID:12704 ataxia telangiectasia ISO RGD:1322661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11964759 RAB39A RAB39A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1322661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964759 RAB39A RAB39A, member RAS oncogene family gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11964765 NFIA nuclear factor I A gene DOID:0060409 NFIA-related disorder ISO RGD:69144 D RGD:7240710 20190315 OMIM 11964765 NFIA nuclear factor I A gene DOID:0060409 NFIA-related disorder ISO RGD:69144 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Brain malformations with or without urinary tract defects | ClinVar Annotator: match by term: Chromosome 1p32-p31 deletion syndrome PMID:24462883|PMID:25714559|PMID:25741868|PMID:27081522|PMID:28492532|PMID:31730271 11964765 NFIA nuclear factor I A gene DOID:1059 intellectual disability ISO RGD:69144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11964765 NFIA nuclear factor I A gene DOID:630 genetic disease ISO RGD:69144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10518556|PMID:1618796|PMID:17530927|PMID:19058033|PMID:19763616|PMID:20673863|PMID:22301465|PMID:22542183|PMID:24098143|PMID:24267886|PMID:24462883|PMID:24657733|PMID:25741868|PMID:27081522|PMID:28492532 11964765 NFIA nuclear factor I A gene DOID:9003816 Macrocephaly ISO RGD:69144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly 11964765 NFIA nuclear factor I A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69144 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11964786 LIN7B lin-7 homolog B, crumbs cell polarity complex component gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:734321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11964786 LIN7B lin-7 homolog B, crumbs cell polarity complex component gene DOID:0111076 progressive familial heart block type IB ISO RGD:734321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:28492532 11964786 LIN7B lin-7 homolog B, crumbs cell polarity complex component gene DOID:630 genetic disease ISO RGD:734321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964795 RAB38 RAB38, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:734295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11964795 RAB38 RAB38, member RAS oncogene family gene DOID:2223 platelet storage pool deficiency ISO RGD:628752 D RGD:9068941 20201211 RGD PMID:9250486|REF_RGD_ID:1302447 11964795 RAB38 RAB38, member RAS oncogene family gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:628752 D RGD:9068941 20200609 RGD PMID:19897744|REF_RGD_ID:2324690 11964795 RAB38 RAB38, member RAS oncogene family gene DOID:576 proteinuria ISO RGD:628752 D RGD:9068941 20200609 RGD PMID:15758045|REF_RGD_ID:1357409 11964795 RAB38 RAB38, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:734295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964795 RAB38 RAB38, member RAS oncogene family gene DOID:9001542 Albuminuria ISO RGD:628752 D RGD:9068941 20200609 RGD PMID:15758045|REF_RGD_ID:1357409 11964795 RAB38 RAB38, member RAS oncogene family gene DOID:9001542 Albuminuria ISO RGD:628752 D RGD:9068941 20201211 RGD compared to FHH-Tg(CAG-Rab38)1Mcwi, FHH.BN-(D1Hmgc14-D1Hmgc15)/Mcwi PMID:23291471|REF_RGD_ID:13782139 11964802 FAT1 FAT atypical cadherin 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:732532 D RGD:9068941 20220204 RGD protein:increased expression:tongue (mouse) PMID:30624777|REF_RGD_ID:151347668 11964802 FAT1 FAT atypical cadherin 1 gene DOID:0050866 oral squamous cell carcinoma onset ISO RGD:732531 D RGD:9068941 20220204 RGD DNA:mutations:multiple PMID:28435450|REF_RGD_ID:151347687 11964802 FAT1 FAT atypical cadherin 1 gene DOID:0060673 Peters anomaly ISO RGD:732531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:26893459|PMID:28492532 11964802 FAT1 FAT atypical cadherin 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:732531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11964802 FAT1 FAT atypical cadherin 1 gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:732531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome 11964802 FAT1 FAT atypical cadherin 1 gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:732532 D RGD:9068941 20220825 MouseDO OMIM:158900 | OMIM:158901 11964802 FAT1 FAT atypical cadherin 1 gene DOID:1184 nephrotic syndrome ISO RGD:732531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:26905694|PMID:28492532 11964802 FAT1 FAT atypical cadherin 1 gene DOID:12849 autistic disorder ISO RGD:732531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11964802 FAT1 FAT atypical cadherin 1 gene DOID:1324 lung cancer ISO RGD:732531 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 11964802 FAT1 FAT atypical cadherin 1 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:732531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:28492532 11964802 FAT1 FAT atypical cadherin 1 gene DOID:2229 factor XI deficiency ISO RGD:732531 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:34355501 11964802 FAT1 FAT atypical cadherin 1 gene DOID:3068 glioblastoma ISO RGD:732531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23354438 11964802 FAT1 FAT atypical cadherin 1 gene DOID:3151 skin squamous cell carcinoma disease_progression ISO RGD:732532 D RGD:9068941 20220128 RGD associated with Neoplasm Metastasis PMID:33328637|REF_RGD_ID:151347447 11964802 FAT1 FAT atypical cadherin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 11964802 FAT1 FAT atypical cadherin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732531 D RGD:9068941 20220204 RGD protein:decreased expression:esophagus squamous epithelium (human) PMID:24590895|REF_RGD_ID:151347630 11964802 FAT1 FAT atypical cadherin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732531 D RGD:9068941 20220204 RGD protein:decreased expression:esophagus squamous epithelium (human) PMID:29365412|REF_RGD_ID:151347646 11964802 FAT1 FAT atypical cadherin 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732531 D RGD:9068941 20220407 CTD CTD Direct Evidence: therapeutic PMID:34390292 11964802 FAT1 FAT atypical cadherin 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732531 D RGD:9068941 20220204 RGD PMID:31085721|REF_RGD_ID:151347689 11964802 FAT1 FAT atypical cadherin 1 gene DOID:5409 lung small cell carcinoma ISO RGD:732531 D RGD:9068941 20220204 RGD DNA:mutations:multiple (human) PMID:31199602|REF_RGD_ID:150429733 11964802 FAT1 FAT atypical cadherin 1 gene DOID:630 genetic disease ISO RGD:732531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11964802 FAT1 FAT atypical cadherin 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:732531 D RGD:9068941 20220204 RGD mRNA,protein:increased expression:liver (human) PMID:24590895|REF_RGD_ID:151347630 11964802 FAT1 FAT atypical cadherin 1 gene DOID:9000918 Disease Progression ISO RGD:732531 D RGD:9068941 20220407 CTD CTD Direct Evidence: therapeutic PMID:34390292 11964802 FAT1 FAT atypical cadherin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11964802 FAT1 FAT atypical cadherin 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:732531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11964802 FAT1 FAT atypical cadherin 1 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:732531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23354438 11964802 FAT1 FAT atypical cadherin 1 gene DOID:9006836 Contracture ISO RGD:732531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Contractures PMID:26489027|PMID:28492532 11964802 FAT1 FAT atypical cadherin 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23354438 11964802 FAT1 FAT atypical cadherin 1 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:732531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 11964802 FAT1 FAT atypical cadherin 1 gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:732531 D RGD:9068941 20220204 RGD left-sided colorectal cancer;DNA:mutations:multiple (human) PMID:33106877|REF_RGD_ID:150539450 11964802 FAT1 FAT atypical cadherin 1 gene DOID:9538 multiple myeloma ISO RGD:732531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11964846 GOLGA1 golgin A1 gene DOID:630 genetic disease ISO RGD:1322690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964883 DUSP29 dual specificity phosphatase 29 gene DOID:630 genetic disease ISO RGD:1321010 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964883 DUSP29 dual specificity phosphatase 29 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1321010 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:22077973|PMID:23436491|PMID:25424711|PMID:27880066|PMID:28492532 11964890 IL13 interleukin 13 gene DOID:0050127 sinusitis ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20358028 11964890 IL13 interleukin 13 gene DOID:0050127 sinusitis susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD associated with asthma; DNA:polymorphisms:promoter:c. -1510A>C, -1055C>T (human) PMID:20358028|REF_RGD_ID:4145767 11964890 IL13 interleukin 13 gene DOID:0060496 respiratory allergy ISO RGD:69009 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19564030|REF_RGD_ID:4145637 11964890 IL13 interleukin 13 gene DOID:0060496 respiratory allergy susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNP, missense mutation:promoter, exon:-1112C>T, p.R130Q (human) PMID:18849614|REF_RGD_ID:8549507 11964890 IL13 interleukin 13 gene DOID:0060500 drug allergy ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 11964890 IL13 interleukin 13 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18802068|REF_RGD_ID:4145478 11964890 IL13 interleukin 13 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:69008 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11964890 IL13 interleukin 13 gene DOID:0080600 COVID-19 severity ISO RGD:69008 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|PMID:32360286|REF_RGD_ID:30309209|REF_RGD_ID:30309212 11964890 IL13 interleukin 13 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:19951958|REF_RGD_ID:8549563 11964890 IL13 interleukin 13 gene DOID:10966 lipoid nephrosis ISO RGD:68949 D RGD:9068941 20200609 RGD PMID:17429054|REF_RGD_ID:2290347 11964890 IL13 interleukin 13 gene DOID:11132 prostatic hypertrophy ISO RGD:68949 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:20945403|REF_RGD_ID:5684375 11964890 IL13 interleukin 13 gene DOID:11204 allergic conjunctivitis ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:9191598|REF_RGD_ID:8549533 11964890 IL13 interleukin 13 gene DOID:11204 allergic conjunctivitis ISO RGD:69008 D RGD:9068941 20200609 RGD associated with Allergic Rhinitis;DNA:SNPs, haplotype:promoter, exon:-1112C>T (rs1800925), p.R130Q (rs20541) (human) PMID:22023794|REF_RGD_ID:8549595 11964890 IL13 interleukin 13 gene DOID:11263 chlamydia ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:21573182|REF_RGD_ID:5684365 11964890 IL13 interleukin 13 gene DOID:11396 pulmonary edema ISO RGD:69008 D RGD:9068941 20200609 RGD aosciated with Enterovirus Infections PMID:15635619|REF_RGD_ID:4145737 11964890 IL13 interleukin 13 gene DOID:11678 onchocerciasis severity ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22805723|REF_RGD_ID:8549600 11964890 IL13 interleukin 13 gene DOID:11963 esophagitis ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:20543112|REF_RGD_ID:4145528 11964890 IL13 interleukin 13 gene DOID:1205 allergic disease ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11964890 IL13 interleukin 13 gene DOID:1205 allergic disease ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNP:promoter, 3' utr:-1055C>T, 4738G>A (human) PMID:11588017|REF_RGD_ID:4765128 11964890 IL13 interleukin 13 gene DOID:12306 vitiligo treatment ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:23680073|REF_RGD_ID:8549591 11964890 IL13 interleukin 13 gene DOID:12351 alcoholic hepatitis ISO RGD:68949 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:16698589|REF_RGD_ID:1581860 11964890 IL13 interleukin 13 gene DOID:12361 Graves' disease disease_progression ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1112C>T (rs1800925) (human) PMID:21235536|REF_RGD_ID:7829719 11964890 IL13 interleukin 13 gene DOID:12361 Graves' disease susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon:-1112C>T (rs1800925), p.R130Q (rs20541) (human) PMID:15483090|REF_RGD_ID:8549544 11964890 IL13 interleukin 13 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:18250447|REF_RGD_ID:4145641 11964890 IL13 interleukin 13 gene DOID:12849 autistic disorder ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16360218 11964890 IL13 interleukin 13 gene DOID:12894 Sjogren's syndrome ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12051401|REF_RGD_ID:8549582 11964890 IL13 interleukin 13 gene DOID:13141 uveitis ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:17392164|REF_RGD_ID:4145496 11964890 IL13 interleukin 13 gene DOID:13141 uveitis treatment ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:11481267|REF_RGD_ID:8549551 11964890 IL13 interleukin 13 gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20416219|REF_RGD_ID:4145765 11964890 IL13 interleukin 13 gene DOID:13378 Kawasaki disease ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:21958311|REF_RGD_ID:5684363 11964890 IL13 interleukin 13 gene DOID:13976 peptic esophagitis ISO RGD:68949 D RGD:9068941 20200609 RGD associated with asthma; mRNA, protein:increased expression:esophagus, Bronchoalveolar Lavage Fluid PMID:18222984|REF_RGD_ID:2307110 11964890 IL13 interleukin 13 gene DOID:14067 Plasmodium falciparum malaria ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21985368|REF_RGD_ID:5684362 11964890 IL13 interleukin 13 gene DOID:1485 cystic fibrosis ISO RGD:69008 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchoalveolar lavage fluid PMID:15463872|REF_RGD_ID:4312589 11964890 IL13 interleukin 13 gene DOID:1580 diffuse scleroderma ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNPs:5' utr, enhancer: (rs1800925, rs2243204) (human) PMID:16832637|REF_RGD_ID:5684369 11964890 IL13 interleukin 13 gene DOID:1793 pancreatic cancer ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:12808442|REF_RGD_ID:2317670 11964890 IL13 interleukin 13 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:18758789|REF_RGD_ID:2317669 11964890 IL13 interleukin 13 gene DOID:1883 hepatitis C ISO RGD:69008 D RGD:9068941 20201112 RGD protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:17553896|REF_RGD_ID:40400745 11964890 IL13 interleukin 13 gene DOID:1883 hepatitis C disease_progression ISO RGD:69008 D RGD:9068941 20201112 RGD protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:17553896|REF_RGD_ID:40400745 11964890 IL13 interleukin 13 gene DOID:2048 autoimmune hepatitis ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 11964890 IL13 interleukin 13 gene DOID:2377 multiple sclerosis ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22031307|REF_RGD_ID:5684368 11964890 IL13 interleukin 13 gene DOID:2377 multiple sclerosis severity ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:21677024|REF_RGD_ID:8549589 11964890 IL13 interleukin 13 gene DOID:2723 dermatitis ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31330126 11964890 IL13 interleukin 13 gene DOID:2723 dermatitis ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs20541 (human) PMID:23171465|REF_RGD_ID:8549505 11964890 IL13 interleukin 13 gene DOID:2773 contact dermatitis treatment ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:19951958|REF_RGD_ID:8549563 11964890 IL13 interleukin 13 gene DOID:2799 bronchiolitis obliterans ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:bronchoalveolar lavage fluid PMID:17182591|REF_RGD_ID:4146242 11964890 IL13 interleukin 13 gene DOID:2799 bronchiolitis obliterans ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:17182591|REF_RGD_ID:4146242 11964890 IL13 interleukin 13 gene DOID:2841 asthma ISO RGD:69008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma, susceptibility to PMID:10699178|PMID:11588017|PMID:11709756|PMID:12847555|PMID:12928861|PMID:15356556|PMID:15483090|PMID:15711639|PMID:15879126 11964890 IL13 interleukin 13 gene DOID:2841 asthma no_association ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R130Q (human) PMID:11678850|REF_RGD_ID:4763761 11964890 IL13 interleukin 13 gene DOID:2841 asthma severity ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.-1055C>T (human) PMID:20198887|REF_RGD_ID:4145593 11964890 IL13 interleukin 13 gene DOID:2841 asthma severity ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11758895|REF_RGD_ID:4763153 11964890 IL13 interleukin 13 gene DOID:2841 asthma severity ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:18328894|REF_RGD_ID:4145777 11964890 IL13 interleukin 13 gene DOID:2841 asthma severity ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:18258919|REF_RGD_ID:4145639 11964890 IL13 interleukin 13 gene DOID:2841 asthma susceptibility ISO RGD:69008 D RGD:7240710 20190502 OMIM 11964890 IL13 interleukin 13 gene DOID:2957 pulmonary tuberculosis ISO RGD:69008 D RGD:9068941 20200609 RGD mRNA:increased expression:Leukocytes, Mononuclear PMID:10608794|REF_RGD_ID:4145649 11964890 IL13 interleukin 13 gene DOID:3008 invasive ductal carcinoma ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:22135852|REF_RGD_ID:8549515 11964890 IL13 interleukin 13 gene DOID:3044 food allergy ISO RGD:69009 D RGD:9068941 20200609 RGD mRNA:increased expression:small intestine PMID:22038918|REF_RGD_ID:5684372 11964890 IL13 interleukin 13 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNP:promoter:c.-1055 C>T (human) PMID:15820084|REF_RGD_ID:4145714 11964890 IL13 interleukin 13 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:polymorphism: :c. 1103C>T (human) PMID:15308043|REF_RGD_ID:4145668 11964890 IL13 interleukin 13 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c.-1055C>T (human) PMID:19995275|REF_RGD_ID:4145596 11964890 IL13 interleukin 13 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:polymorphisms:intron1,exon4s: rs2066960, rs20541, rs1295685 (human) PMID:19796199|REF_RGD_ID:4145601 11964890 IL13 interleukin 13 gene DOID:3310 atopic dermatitis ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437|PMID:22355542 11964890 IL13 interleukin 13 gene DOID:3310 atopic dermatitis ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:16672002|REF_RGD_ID:8549583 11964890 IL13 interleukin 13 gene DOID:3310 atopic dermatitis ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNP:exon:4257G>A (human) PMID:10887320|REF_RGD_ID:8549529 11964890 IL13 interleukin 13 gene DOID:3310 atopic dermatitis ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNPs: :rs3091307, rs20541 (human) PMID:21913997|REF_RGD_ID:5684364 11964890 IL13 interleukin 13 gene DOID:3310 atopic dermatitis ISO RGD:69009 D RGD:9068941 20220825 MouseDO OMIM:603165 11964890 IL13 interleukin 13 gene DOID:3310 atopic dermatitis severity ISO RGD:69008 D RGD:9068941 20200609 RGD DNA, protein:SNP, increased expression:promoter, serum:-1112C>T (human) PMID:23317483|REF_RGD_ID:8549509 11964890 IL13 interleukin 13 gene DOID:3310 atopic dermatitis severity ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:17313488|REF_RGD_ID:8549539 11964890 IL13 interleukin 13 gene DOID:3310 atopic dermatitis treatment ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:19006098|REF_RGD_ID:8549531 11964890 IL13 interleukin 13 gene DOID:3326 purpura susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD associated withe Sjogren's Syndrome;DNA:SNP:cds:2044 G>A(human) PMID:16166103|REF_RGD_ID:11528572 11964890 IL13 interleukin 13 gene DOID:350 mastocytosis ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1112C>T (rs1800925) (human) PMID:19178408|REF_RGD_ID:8549523 11964890 IL13 interleukin 13 gene DOID:3525 middle cerebral artery infarction ISO RGD:68949 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:23028794|REF_RGD_ID:7204480 11964890 IL13 interleukin 13 gene DOID:3770 pulmonary fibrosis ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15322207 11964890 IL13 interleukin 13 gene DOID:3770 pulmonary fibrosis ISO RGD:69008 D RGD:9068941 20200609 RGD idiopathic pulmonary fibrosis PMID:19654941|REF_RGD_ID:4145627 11964890 IL13 interleukin 13 gene DOID:3770 pulmonary fibrosis ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:20176803|REF_RGD_ID:4888529 11964890 IL13 interleukin 13 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:68949 D RGD:9068941 20200609 RGD PMID:19154443|REF_RGD_ID:2314537 11964890 IL13 interleukin 13 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:19154443|REF_RGD_ID:2314537 11964890 IL13 interleukin 13 gene DOID:4001 ovarian carcinoma ISO RGD:69008 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:tumor,ascites:mRNA increased relative to normal ovary, protein increased in tumor tissue/cancer ascites relative to normal ovary/ascites PMID:14984938|REF_RGD_ID:2290344 11964890 IL13 interleukin 13 gene DOID:418 systemic scleroderma ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9034992|REF_RGD_ID:5684371 11964890 IL13 interleukin 13 gene DOID:418 systemic scleroderma ISO RGD:69009 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:skin PMID:15564778|REF_RGD_ID:5684370 11964890 IL13 interleukin 13 gene DOID:418 systemic scleroderma no_association ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human) PMID:22045834|REF_RGD_ID:8549502 11964890 IL13 interleukin 13 gene DOID:4376 milk allergy ISO RGD:69008 D RGD:9068941 20200609 RGD associated with Dermatitis, Atopic; DNA:missense mutation:cds:p.R130Q (c.389G>A) (rs20541) (human) PMID:19220774|REF_RGD_ID:8549541 11964890 IL13 interleukin 13 gene DOID:4377 egg allergy ISO RGD:69008 D RGD:9068941 20200609 RGD associated with Dermatitis, Atopic; DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (c.389G>A) (rs1800925, rs20541) (human) PMID:19220774|REF_RGD_ID:8549541 11964890 IL13 interleukin 13 gene DOID:4378 peanut allergy ISO RGD:69008 D RGD:9068941 20200609 RGD associated with Dermatitis, Atopic; DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (c.389G>A) (rs1800925, rs20541) (human) PMID:19220774|REF_RGD_ID:8549541 11964890 IL13 interleukin 13 gene DOID:4404 occupational dermatitis ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:19254288|REF_RGD_ID:8549579 11964890 IL13 interleukin 13 gene DOID:4450 renal cell carcinoma ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22317767 11964890 IL13 interleukin 13 gene DOID:4481 allergic rhinitis ISO RGD:69008 D RGD:9068941 20230216 CTD CTD Direct Evidence: marker/mechanism 11964890 IL13 interleukin 13 gene DOID:4481 allergic rhinitis no_association ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human) PMID:12928861|REF_RGD_ID:8549516 11964890 IL13 interleukin 13 gene DOID:4481 allergic rhinitis susceptibility ISO RGD:69008 D RGD:7240710 20190502 OMIM 11964890 IL13 interleukin 13 gene DOID:4483 rhinitis ISO RGD:68949 D RGD:9068941 20200609 RGD mRNA:increased expression:nose PMID:20696593|REF_RGD_ID:4145454 11964890 IL13 interleukin 13 gene DOID:4483 rhinitis ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:16120094|REF_RGD_ID:4206706 11964890 IL13 interleukin 13 gene DOID:4483 rhinitis disease_progression ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:17088137|REF_RGD_ID:4159171 11964890 IL13 interleukin 13 gene DOID:4483 rhinitis susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs1800925 (human) PMID:20484924|REF_RGD_ID:4145534 11964890 IL13 interleukin 13 gene DOID:4483 rhinitis susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD associated with asthma; DNA:polymorphisms:promoter:c. -1510A>C, -1055C>T (human) PMID:20358028|REF_RGD_ID:4145767 11964890 IL13 interleukin 13 gene DOID:4989 pancreatitis ISO RGD:68949 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:20100461|REF_RGD_ID:4145466 11964890 IL13 interleukin 13 gene DOID:4989 pancreatitis ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:20100461|REF_RGD_ID:4145466 11964890 IL13 interleukin 13 gene DOID:552 pneumonia ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11964890 IL13 interleukin 13 gene DOID:552 pneumonia ISO RGD:69008 D RGD:9068941 20200609 RGD associated with Respiratory Distress Syndrome, Newborn; protein:increased expression:bronchoalveolar lavage fluid PMID:19695190|REF_RGD_ID:4145774 11964890 IL13 interleukin 13 gene DOID:630 genetic disease ISO RGD:69008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964890 IL13 interleukin 13 gene DOID:6432 pulmonary hypertension ISO RGD:69008 D RGD:9068941 20200609 RGD associated with Scleroderma, Limited;protein:increased expression:plasma PMID:21425123|REF_RGD_ID:8549528 11964890 IL13 interleukin 13 gene DOID:6432 pulmonary hypertension ISO RGD:69008 D RGD:9068941 20200609 RGD associated with sclerosis; protein:increased expression:plasma (human) PMID:19799786|REF_RGD_ID:4145600 11964890 IL13 interleukin 13 gene DOID:7148 rheumatoid arthritis ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12051401|REF_RGD_ID:8549582 11964890 IL13 interleukin 13 gene DOID:841 extrinsic allergic alveolitis ISO RGD:68949 D RGD:9068941 20200609 RGD PMID:9916735|REF_RGD_ID:4145650 11964890 IL13 interleukin 13 gene DOID:841 extrinsic allergic alveolitis ISO RGD:69009 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:20861649|REF_RGD_ID:5128548 11964890 IL13 interleukin 13 gene DOID:8472 localized scleroderma ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12920362|REF_RGD_ID:8549537 11964890 IL13 interleukin 13 gene DOID:850 lung disease ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22355542 11964890 IL13 interleukin 13 gene DOID:850 lung disease ISO RGD:69008 D RGD:9068941 20200609 RGD associated with Behcet Syndrome; protein:increased expression:Bronchoalveolar lavage fluid PMID:20716936|REF_RGD_ID:4145526 11964890 IL13 interleukin 13 gene DOID:850 lung disease ISO RGD:69009 D RGD:9068941 20200609 RGD acute lung injury PMID:17404281|REF_RGD_ID:4145647 11964890 IL13 interleukin 13 gene DOID:8893 psoriasis ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19169254|PMID:20953190 11964890 IL13 interleukin 13 gene DOID:8893 psoriasis no_association ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNP, missense mutation:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human) PMID:21349879|REF_RGD_ID:8549517 11964890 IL13 interleukin 13 gene DOID:8893 psoriasis susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: (rs20541) (human) PMID:23617596|REF_RGD_ID:8549593 11964890 IL13 interleukin 13 gene DOID:9000081 Lymphatic Metastasis ISO RGD:69008 D RGD:9068941 20200609 RGD associated with Melanoma, Cutaneous Malignant;mRNA:increased expression:lymph node PMID:17545514|REF_RGD_ID:8549587 11964890 IL13 interleukin 13 gene DOID:9000156 Metaplasia ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21203431 11964890 IL13 interleukin 13 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12654629|PMID:23434795 11964890 IL13 interleukin 13 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:12669034|REF_RGD_ID:4761594 11964890 IL13 interleukin 13 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:69009 D RGD:9068941 20200609 RGD associated with Eosinophilic enteropathy PMID:15236177|REF_RGD_ID:4145432 11964890 IL13 interleukin 13 gene DOID:9000772 Bronchial Hyperreactivity susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1055C>T (human) PMID:11588017|REF_RGD_ID:4765128 11964890 IL13 interleukin 13 gene DOID:9000784 Fibrosis treatment ISO RGD:68949 D RGD:9068941 20200609 RGD associated with Venous Thrombosis PMID:12947342|REF_RGD_ID:8549644 11964890 IL13 interleukin 13 gene DOID:9001472 Nasal Polyps ISO RGD:69008 D RGD:9068941 20200609 RGD associated with Rhinosinusitis;protein:increased expression:serum PMID:23969075|REF_RGD_ID:8549540 11964890 IL13 interleukin 13 gene DOID:9001488 Human Influenza ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20003352|REF_RGD_ID:4888530 11964890 IL13 interleukin 13 gene DOID:9002211 Hyperalgesia treatment ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:11399514|REF_RGD_ID:8549555 11964890 IL13 interleukin 13 gene DOID:9002221 Hyperplasia ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19342650 11964890 IL13 interleukin 13 gene DOID:9002287 Respiratory Tract Granuloma treatment ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:10857756|REF_RGD_ID:8549624 11964890 IL13 interleukin 13 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:68949 D RGD:9068941 20200609 RGD PMID:15902684|REF_RGD_ID:8549607 11964890 IL13 interleukin 13 gene DOID:9002457 Experimental Arthritis ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10444273 11964890 IL13 interleukin 13 gene DOID:9002457 Experimental Arthritis ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:17665443|REF_RGD_ID:4889497 11964890 IL13 interleukin 13 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:68949 D RGD:9068941 20200609 RGD PMID:11860705|REF_RGD_ID:8549606 11964890 IL13 interleukin 13 gene DOID:9002605 Delayed Hypersensitivity treatment ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:19951958|REF_RGD_ID:8549563 11964890 IL13 interleukin 13 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:7523520|REF_RGD_ID:5684367 11964890 IL13 interleukin 13 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis severity ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:18250480|REF_RGD_ID:5684366 11964890 IL13 interleukin 13 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159|PMID:22967010 11964890 IL13 interleukin 13 gene DOID:9002869 Schistosomiasis Mansoni treatment ISO RGD:68949 D RGD:9068941 20200609 RGD PMID:10903803|REF_RGD_ID:8549615 11964890 IL13 interleukin 13 gene DOID:9003157 Respiratory Sounds ISO RGD:69008 D RGD:9068941 20200609 RGD associated with Bronchiolitis; protein:increased expression:serum PMID:18312531|REF_RGD_ID:4145779 11964890 IL13 interleukin 13 gene DOID:9003470 Picornaviridae Infections ISO RGD:69009 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive;mRNA,protein:increased expression:lung PMID:19748999|REF_RGD_ID:4145626 11964890 IL13 interleukin 13 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:69008 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:nasal mucosa PMID:8520776|REF_RGD_ID:4782826 11964890 IL13 interleukin 13 gene DOID:9004009 Reperfusion Injury ISO RGD:68949 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:18354382|REF_RGD_ID:2301685 11964890 IL13 interleukin 13 gene DOID:9004009 Reperfusion Injury ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:18354382|REF_RGD_ID:2301685 11964890 IL13 interleukin 13 gene DOID:9004283 Transplant Rejection ISO RGD:68949 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:17532783|REF_RGD_ID:10402939 11964890 IL13 interleukin 13 gene DOID:9004283 Transplant Rejection treatment ISO RGD:68949 D RGD:9068941 20200609 RGD PMID:17331844|REF_RGD_ID:8549647 11964890 IL13 interleukin 13 gene DOID:9004283 Transplant Rejection treatment ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:17902182|REF_RGD_ID:8549629 11964890 IL13 interleukin 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11964890 IL13 interleukin 13 gene DOID:9004484 Sepsis ISO RGD:68949 D RGD:9068941 20200609 RGD protein:decreased expression:ileum PMID:21159497|REF_RGD_ID:8549643 11964890 IL13 interleukin 13 gene DOID:9004484 Sepsis ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:10679115|REF_RGD_ID:4145654 11964890 IL13 interleukin 13 gene DOID:9004610 Acute Lung Injury ISO RGD:68949 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15461830|REF_RGD_ID:4145512 11964890 IL13 interleukin 13 gene DOID:9005372 Inflammation ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22867017 11964890 IL13 interleukin 13 gene DOID:9005724 Fungal Lung Diseases ISO RGD:68949 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:16544260|REF_RGD_ID:4145506 11964890 IL13 interleukin 13 gene DOID:9005724 Fungal Lung Diseases ISO RGD:69009 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19752036|REF_RGD_ID:4145474 11964890 IL13 interleukin 13 gene DOID:9005930 Endotoxemia treatment ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:10674721|REF_RGD_ID:8549626 11964890 IL13 interleukin 13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 11964890 IL13 interleukin 13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69008 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11964890 IL13 interleukin 13 gene DOID:9007356 Eczema ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNP:CDS:p.R130Q (rs20541) (human) PMID:23815671|REF_RGD_ID:8549530 11964890 IL13 interleukin 13 gene DOID:9007356 Eczema no_association ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple PMID:18410415|REF_RGD_ID:8549512 11964890 IL13 interleukin 13 gene DOID:9007417 Pseudomonas Infections ISO RGD:69008 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:16387607|REF_RGD_ID:4145500 11964890 IL13 interleukin 13 gene DOID:9007651 Chronic Bronchitis ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:Respiratory Mucosa PMID:14582911|REF_RGD_ID:4759835 11964890 IL13 interleukin 13 gene DOID:9008 psoriatic arthritis susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNP, missense mutation:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human PMID:21349879|REF_RGD_ID:8549517 11964890 IL13 interleukin 13 gene DOID:9008 psoriatic arthritis susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon:rs1800925, rs20541, rs848 (human) PMID:19554022|REF_RGD_ID:8549552 11964890 IL13 interleukin 13 gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD associated with carcinoma, non-small-cell lung; DNA:SNPs: :rs20541, rs180925 (human) PMID:20811626|REF_RGD_ID:5131286 11964890 IL13 interleukin 13 gene DOID:9008680 Respiratory Tract Infections ISO RGD:69008 D RGD:9068941 20200609 RGD Severe Acute Respiratory Syndrome PMID:14633438|REF_RGD_ID:4145665 11964890 IL13 interleukin 13 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:promoter, exon:-1512A>C, -1055C>T, 2044G>A (human) PMID:18989750|REF_RGD_ID:8549503 11964890 IL13 interleukin 13 gene DOID:9008939 Breast Neoplasms treatment ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:17438063|REF_RGD_ID:8549557 11964890 IL13 interleukin 13 gene DOID:9074 systemic lupus erythematosus ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12051401|REF_RGD_ID:8549582 11964890 IL13 interleukin 13 gene DOID:9111 cutaneous leishmaniasis treatment ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:12739821|PMID:18924210|REF_RGD_ID:8549536|REF_RGD_ID:8549561 11964890 IL13 interleukin 13 gene DOID:9498 pulmonary eosinophilia ISO RGD:69009 D RGD:9068941 20200609 RGD associated with Respiratory Syncytial Virus Infections PMID:12574374|REF_RGD_ID:8549597 11964890 IL13 interleukin 13 gene DOID:9675 pulmonary emphysema ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:11067861|REF_RGD_ID:4145652 11964905 NUDT4 nudix hydrolase 4 gene DOID:630 genetic disease ISO RGD:1320353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964920 RPS6KA4 ribosomal protein S6 kinase A4 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1316377 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11964920 RPS6KA4 ribosomal protein S6 kinase A4 gene DOID:1059 intellectual disability ISO RGD:1316377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11964920 RPS6KA4 ribosomal protein S6 kinase A4 gene DOID:3070 high grade glioma ISO RGD:1316377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11964920 RPS6KA4 ribosomal protein S6 kinase A4 gene DOID:630 genetic disease ISO RGD:1316377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964943 KLF9 KLF transcription factor 9 gene DOID:289 endometriosis ISO RGD:1350312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 11964943 KLF9 KLF transcription factor 9 gene DOID:50 thyroid gland disease ISO RGD:1350312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 11964943 KLF9 KLF transcription factor 9 gene DOID:630 genetic disease ISO RGD:1350312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964943 KLF9 KLF transcription factor 9 gene DOID:9007633 Body Weight ISO RGD:1350312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344221 11964943 KLF9 KLF transcription factor 9 gene DOID:9775 diastolic heart failure ISO RGD:1350312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 11964949 STIMATE STIM activating enhancer gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1602041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 11964961 FRG1 FSHD region gene 1 gene DOID:0111192 facioscapulohumeral muscular dystrophy 1 ISO RGD:1320772 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11964961 FRG1 FSHD region gene 1 gene DOID:2229 factor XI deficiency ISO RGD:1320772 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:34355501 11964961 FRG1 FSHD region gene 1 gene DOID:630 genetic disease ISO RGD:1320772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11964961 FRG1 FSHD region gene 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11964961 FRG1 FSHD region gene 1 gene DOID:9007098 Pulmonary Atresia ISO RGD:1320772 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia 11964978 ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0080600 COVID-19 ISO RGD:1604512 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11964978 ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0110658 congenital myasthenic syndrome 15 ISO RGD:1604512 D RGD:7240710 20180130 OMIM 11964978 ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0110658 congenital myasthenic syndrome 15 ISO RGD:1604512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 15 PMID:16199547|PMID:17576681|PMID:23404334|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28733338|PMID:33751823|PMID:9536098 11964978 ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:3635 congenital myasthenic syndrome ISO RGD:1604512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11964978 ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:630 genetic disease ISO RGD:1604512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:28733338|PMID:9536098 11964978 ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9003980 Myopathy, Epilepsy, and Progressive Cerebral Atrophy ISO RGD:1604512 D RGD:7240710 20201021 OMIM 11964978 ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9003980 Myopathy, Epilepsy, and Progressive Cerebral Atrophy ISO RGD:1604512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, epilepsy, and progressive cerebral atrophy PMID:25741868|PMID:26467025|PMID:28492532|PMID:28733338|PMID:33751823 11964986 RAP1GAP2 RAP1 GTPase activating protein 2 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1346377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome PMID:25741868 11964986 RAP1GAP2 RAP1 GTPase activating protein 2 gene DOID:630 genetic disease ISO RGD:1346377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11965026 ABI3 ABI family member 3 gene DOID:10652 Alzheimer's disease ISO RGD:1323432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28714976 11965026 ABI3 ABI family member 3 gene DOID:630 genetic disease ISO RGD:1323432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11965038 ZNF296 zinc finger protein 296 gene DOID:630 genetic disease ISO RGD:1343580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11965045 NUP42 nucleoporin 42 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11965045 NUP42 nucleoporin 42 gene DOID:630 genetic disease ISO RGD:1344412 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11965091 KCNK18 potassium two pore domain channel subfamily K member 18 gene DOID:630 genetic disease ISO RGD:1346775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11965091 KCNK18 potassium two pore domain channel subfamily K member 18 gene DOID:6364 migraine ISO RGD:1346775 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Migraine, with or without aura, susceptibility to, 13 PMID:20871611|PMID:25741868|PMID:28492532|PMID:30573346 11965091 KCNK18 potassium two pore domain channel subfamily K member 18 gene DOID:6364 migraine susceptibility ISO RGD:1346775 D RGD:7240710 20220216 OMIM 11965096 MDM2 MDM2 proto-oncogene gene DOID:0050625 biliary tract benign neoplasm ISO RGD:1313299 D RGD:9068941 20200609 RGD protein:increased expression:biliary epithelium (human) PMID:16505435|REF_RGD_ID:2317415 11965096 MDM2 MDM2 proto-oncogene gene DOID:0050908 myelodysplastic syndrome no_association ISO RGD:1313299 D RGD:9068941 20200609 RGD DNA:SNP:cds:309T>G(rs2279744)(human) PMID:22668018|REF_RGD_ID:11073731 11965096 MDM2 MDM2 proto-oncogene gene DOID:0060071 pre-malignant neoplasm ISO RGD:1313299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14555611 11965096 MDM2 MDM2 proto-oncogene gene DOID:10923 sickle cell anemia ISO RGD:1313300 D RGD:9068941 20200609 RGD PMID:21085184|REF_RGD_ID:10412315 11965096 MDM2 MDM2 proto-oncogene gene DOID:11054 urinary bladder cancer severity ISO RGD:1313299 D RGD:9068941 20200609 RGD mRNA:increased expression:bladder PMID:27798881|REF_RGD_ID:13602098 11965096 MDM2 MDM2 proto-oncogene gene DOID:1115 sarcoma ISO RGD:1313299 D RGD:9068941 20200609 RGD DNA:amplification:cds (human) PMID:1614537|REF_RGD_ID:2317412 11965096 MDM2 MDM2 proto-oncogene gene DOID:12336 male infertility ISO RGD:1313299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22773013 11965096 MDM2 MDM2 proto-oncogene gene DOID:13677 SAPHO syndrome ISO RGD:1313299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19779722 11965096 MDM2 MDM2 proto-oncogene gene DOID:14566 disease of cellular proliferation ISO RGD:1313299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Accelerated tumor formation, susceptibility to PMID:15550242|PMID:16258005|PMID:17003841|PMID:17360557|PMID:17576681|PMID:19521721|PMID:28492532|PMID:9536098 11965096 MDM2 MDM2 proto-oncogene gene DOID:14566 disease of cellular proliferation ISO RGD:1313299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Accelerated tumor formation, susceptibility to PMID:15550242|PMID:16199547|PMID:16258005|PMID:17003841|PMID:17360557|PMID:17576681|PMID:19521721|PMID:23653682|PMID:28492532|PMID:9536098 11965096 MDM2 MDM2 proto-oncogene gene DOID:1612 breast cancer ISO RGD:1305332 D RGD:9068941 20200609 RGD protein:increased expression:breast tumor (rat) PMID:15844214|REF_RGD_ID:2293626 11965096 MDM2 MDM2 proto-oncogene gene DOID:1697 ichthyosis ISO RGD:1313299 D RGD:9068941 20200609 RGD PMID:24005053|REF_RGD_ID:10412066 11965096 MDM2 MDM2 proto-oncogene gene DOID:1697 ichthyosis treatment ISO RGD:1305332 D RGD:9068941 20200609 RGD PMID:24005053|REF_RGD_ID:10412066 11965096 MDM2 MDM2 proto-oncogene gene DOID:1909 melanoma ISO RGD:1313299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17210701 11965096 MDM2 MDM2 proto-oncogene gene DOID:2055 post-traumatic stress disorder ISO RGD:1305332 D RGD:9068941 20200609 RGD PMID:23174211|REF_RGD_ID:10412309 11965096 MDM2 MDM2 proto-oncogene gene DOID:224 transient cerebral ischemia treatment ISO RGD:1305332 D RGD:9068941 20200609 RGD PMID:24334056|REF_RGD_ID:10412310 11965096 MDM2 MDM2 proto-oncogene gene DOID:3068 glioblastoma ISO RGD:1313299 D RGD:9068941 20200609 RGD DNA:amplication PMID:23796897|REF_RGD_ID:13702089 11965096 MDM2 MDM2 proto-oncogene gene DOID:3587 pancreatic ductal carcinoma onset ISO RGD:1313299 D RGD:9068941 20200609 RGD DNA:snp:promoter, intron:IVS1+309T>G (human) PMID:19752772|REF_RGD_ID:2317414 11965096 MDM2 MDM2 proto-oncogene gene DOID:3587 pancreatic ductal carcinoma severity ISO RGD:1313299 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:15810085|REF_RGD_ID:2317416 11965096 MDM2 MDM2 proto-oncogene gene DOID:3669 intermittent claudication treatment ISO RGD:1305332 D RGD:9068941 20200609 RGD PMID:23658678|REF_RGD_ID:9586024 11965096 MDM2 MDM2 proto-oncogene gene DOID:3908 lung non-small cell carcinoma ISO RGD:1313299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19941079|PMID:21268124 11965096 MDM2 MDM2 proto-oncogene gene DOID:409 liver disease onset ISO RGD:1305332 D RGD:9068941 20200609 RGD protein:increased expression:Enzyme altered focus (rat) PMID:14555611|REF_RGD_ID:2317409 11965096 MDM2 MDM2 proto-oncogene gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1313299 D RGD:9068941 20200609 RGD protein:increased expression:intrahepatic bile duct (human) PMID:15619210|REF_RGD_ID:2317417 11965096 MDM2 MDM2 proto-oncogene gene DOID:4989 pancreatitis ISO RGD:1305332 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (rat) PMID:19850968|REF_RGD_ID:2317361 11965096 MDM2 MDM2 proto-oncogene gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 11965096 MDM2 MDM2 proto-oncogene gene DOID:630 genetic disease ISO RGD:1313299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11965096 MDM2 MDM2 proto-oncogene gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1313299 D RGD:9068941 20200609 RGD DNA:transversion:promoter:g.-309T>G (human) PMID:20019189|REF_RGD_ID:2317357 11965096 MDM2 MDM2 proto-oncogene gene DOID:8552 chronic myeloid leukemia onset ISO RGD:1313299 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs2279744(human) PMID:23818300|REF_RGD_ID:13703044 11965096 MDM2 MDM2 proto-oncogene gene DOID:9000039 Spinal Cord Injuries ISO RGD:1305332 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:23595775|REF_RGD_ID:10412063 11965096 MDM2 MDM2 proto-oncogene gene DOID:9000217 Stomach Neoplasms ISO RGD:1313299 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:31945315 11965096 MDM2 MDM2 proto-oncogene gene DOID:9000998 Brain Injuries ISO RGD:1305332 D RGD:9068941 20200609 RGD protein:increased expression:brain cortex (rat) PMID:15165363|REF_RGD_ID:2317397 11965096 MDM2 MDM2 proto-oncogene gene DOID:9002231 Fetal Growth Retardation ISO RGD:1305332 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebrum (rat) PMID:15563574|REF_RGD_ID:2317395 11965096 MDM2 MDM2 proto-oncogene gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20875869 11965096 MDM2 MDM2 proto-oncogene gene DOID:9002395 Hypothermia ISO RGD:1305332 D RGD:9068941 20200609 RGD associated with Reperfusion Injury; protein:increased expression:hippocampus (rat) PMID:15777295|REF_RGD_ID:2317393 11965096 MDM2 MDM2 proto-oncogene gene DOID:9002644 Premature Aging ISO RGD:1313300 D RGD:9068941 20200609 RGD PMID:23766372|REF_RGD_ID:10412052 11965096 MDM2 MDM2 proto-oncogene gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia susceptibility ISO RGD:1313299 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;DNA:SNP:cds:309T>G(rs2279744)(human) PMID:21706156|REF_RGD_ID:11073725 11965096 MDM2 MDM2 proto-oncogene gene DOID:9003292 Intracranial Subdural Hematoma treatment ISO RGD:1305332 D RGD:9068941 20230128 RGD PMID:34334113|REF_RGD_ID:155882538 11965096 MDM2 MDM2 proto-oncogene gene DOID:9004277 Lessel-Kubisch Syndrome ISO RGD:1313299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lessel-kubisch syndrome PMID:28846075 11965096 MDM2 MDM2 proto-oncogene gene DOID:9004277 Lessel-Kubisch Syndrome susceptibility ISO RGD:1313299 D RGD:7240710 20230505 OMIM 11965096 MDM2 MDM2 proto-oncogene gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:1313299 D RGD:9068941 20200609 RGD associated with Small Cell Lung Carcinoma;DNA:SNP::rs2279744(human) PMID:24732641|REF_RGD_ID:11073715 11965096 MDM2 MDM2 proto-oncogene gene DOID:9005396 Intimal Hyperplasia treatment ISO RGD:1313300 D RGD:9068941 20200609 RGD PMID:21498419|REF_RGD_ID:10412065 11965096 MDM2 MDM2 proto-oncogene gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1305332 D RGD:9068941 20200609 RGD protein:increased degradation:myocardium PMID:23530877|REF_RGD_ID:10412313 11965096 MDM2 MDM2 proto-oncogene gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1313299 D RGD:9068941 20230511 CTD CTD Direct Evidence: marker/mechanism PMID:15550242 11965096 MDM2 MDM2 proto-oncogene gene DOID:9007608 Neoplastic Cell Transformation susceptibility ISO RGD:1313299 D RGD:7240710 20230505 OMIM 11965096 MDM2 MDM2 proto-oncogene gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1305332 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:heart ventricle (rat) PMID:14644432|REF_RGD_ID:2317401 11965096 MDM2 MDM2 proto-oncogene gene DOID:9008939 Breast Neoplasms ISO RGD:1313299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26229107 11965096 MDM2 MDM2 proto-oncogene gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1313299 D RGD:9068941 20200609 RGD PMID:11064355|REF_RGD_ID:11251749 11965096 MDM2 MDM2 proto-oncogene gene DOID:9286 priapism ISO RGD:1305332 D RGD:9068941 20200609 RGD protein:increased expression:corpus cavernosum PMID:21085184|REF_RGD_ID:10412315 11965130 MAGEB5 MAGE family member B5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11965130 MAGEB5 MAGE family member B5 gene DOID:12849 autistic disorder ISO RGD:1349538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11965130 MAGEB5 MAGE family member B5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11965143 SNX6 sorting nexin 6 gene DOID:630 genetic disease ISO RGD:1312208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11965143 SNX6 sorting nexin 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1312208 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11965159 NPPA natriuretic peptide A gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:730878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11965159 NPPA natriuretic peptide A gene DOID:0050685 small cell carcinoma ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18717826 11965159 NPPA natriuretic peptide A gene DOID:0060036 intrinsic cardiomyopathy ISO RGD:730878 D RGD:9068941 20221110 RGD protein:increased expression:heart (human) PMID:27249171|REF_RGD_ID:155646134 11965159 NPPA natriuretic peptide A gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:730878 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11965159 NPPA natriuretic peptide A gene DOID:0080662 atrial standstill 1 ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11965159 NPPA natriuretic peptide A gene DOID:0080663 atrial standstill 2 ISO RGD:730878 D RGD:7240710 20180130 OMIM 11965159 NPPA natriuretic peptide A gene DOID:0080663 atrial standstill 2 ISO RGD:730878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial standstill 2 PMID:23275345|PMID:28492532|PMID:6225642 11965159 NPPA natriuretic peptide A gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:730878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 PMID:28492532 11965159 NPPA natriuretic peptide A gene DOID:1073 renal hypertension ISO RGD:3193 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:20139323|REF_RGD_ID:7248593 11965159 NPPA natriuretic peptide A gene DOID:1073 renal hypertension ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8763405 11965159 NPPA natriuretic peptide A gene DOID:1073 renal hypertension ISO RGD:730878 D RGD:9068941 20200609 RGD PMID:15241786|REF_RGD_ID:7248617 11965159 NPPA natriuretic peptide A gene DOID:1073 renal hypertension ISO RGD:730878 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:plasma PMID:12697975|REF_RGD_ID:7248660 11965159 NPPA natriuretic peptide A gene DOID:10763 hypertension ISO RGD:11003 D RGD:9068941 20220825 MouseDO 11965159 NPPA natriuretic peptide A gene DOID:10763 hypertension ISO RGD:3193 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:20139323|REF_RGD_ID:7248593 11965159 NPPA natriuretic peptide A gene DOID:10763 hypertension ISO RGD:730878 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12940879|PMID:19219041|PMID:24039778|PMID:2526952|PMID:32147540|PMID:7839143|PMID:8188982|PMID:9869009 11965159 NPPA natriuretic peptide A gene DOID:114 heart disease ISO RGD:730878 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:plasma PMID:12916000|REF_RGD_ID:2313591 11965159 NPPA natriuretic peptide A gene DOID:114 heart disease ISO RGD:730878 D RGD:9068941 20221027 RGD mRNA, protein:increased expression:heart (human) PMID:26597775|REF_RGD_ID:11554891 11965159 NPPA natriuretic peptide A gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:3193 D RGD:9068941 20200609 RGD protein:decreased expression:cardiomyocyte PMID:25820375|REF_RGD_ID:13792650 11965159 NPPA natriuretic peptide A gene DOID:11984 hypertrophic cardiomyopathy treatment ISO RGD:11003 D RGD:9068941 20221110 RGD protein:increased expression:heart (human) PMID:27249171|REF_RGD_ID:155646134 11965159 NPPA natriuretic peptide A gene DOID:12930 dilated cardiomyopathy ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11986409|PMID:16762803 11965159 NPPA natriuretic peptide A gene DOID:12930 dilated cardiomyopathy ISO RGD:730878 D RGD:9068941 20230415 RGD mRNA,protein:increased expression:heart (human) PMID:24275554|REF_RGD_ID:11252017 11965159 NPPA natriuretic peptide A gene DOID:13832 patent ductus arteriosus ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1421905 11965159 NPPA natriuretic peptide A gene DOID:1909 melanoma ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18004088 11965159 NPPA natriuretic peptide A gene DOID:2316 brain ischemia no_association ISO RGD:730878 D RGD:9068941 20200609 RGD DNA:polymorphism:G664A PMID:11706124|REF_RGD_ID:1626244 11965159 NPPA natriuretic peptide A gene DOID:2527 nephrosis ISO RGD:3193 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:8289999|REF_RGD_ID:7247315 11965159 NPPA natriuretic peptide A gene DOID:2921 glomerulonephritis ISO RGD:730878 D RGD:9068941 20200609 RGD associated with Streptococcal Infections;protein:increased expression:plasma PMID:12654066|REF_RGD_ID:7248663 11965159 NPPA natriuretic peptide A gene DOID:299 adenocarcinoma ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18225537 11965159 NPPA natriuretic peptide A gene DOID:3021 acute kidney failure ISO RGD:3193 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:22209992|REF_RGD_ID:7247715 11965159 NPPA natriuretic peptide A gene DOID:3021 acute kidney failure ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1825077|PMID:19298916|PMID:2948068 11965159 NPPA natriuretic peptide A gene DOID:3393 coronary artery disease ISO RGD:730878 D RGD:9068941 20200609 RGD DNA:snp:cds:c.2238T>C (human) PMID:12514664|REF_RGD_ID:1579982 11965159 NPPA natriuretic peptide A gene DOID:3393 coronary artery disease ISO RGD:730878 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP:exon: 2238T>C,rs5065 (human) PMID:22170009|REF_RGD_ID:7247716 11965159 NPPA natriuretic peptide A gene DOID:4248 coronary stenosis ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12721106 11965159 NPPA natriuretic peptide A gene DOID:5082 liver cirrhosis ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15613622 11965159 NPPA natriuretic peptide A gene DOID:5199 ureteral obstruction ISO RGD:11003 D RGD:9068941 20200609 RGD protein, mRNA:increased expression:plasma, kidney: PMID:19223006|REF_RGD_ID:7247722 11965159 NPPA natriuretic peptide A gene DOID:5199 ureteral obstruction ISO RGD:3193 D RGD:9068941 20200609 RGD PMID:19223006|REF_RGD_ID:7247722 11965159 NPPA natriuretic peptide A gene DOID:5199 ureteral obstruction ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26207612 11965159 NPPA natriuretic peptide A gene DOID:57 aortic valve insufficiency ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 11965159 NPPA natriuretic peptide A gene DOID:5844 myocardial infarction ISO RGD:3193 D RGD:9068941 20200609 RGD PMID:16087130|REF_RGD_ID:1580000 11965159 NPPA natriuretic peptide A gene DOID:5844 myocardial infarction ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11743230|PMID:9527094 11965159 NPPA natriuretic peptide A gene DOID:5844 myocardial infarction ISO RGD:730878 D RGD:9068941 20200609 RGD DNA:snp:cds:c.2238T>C (human) PMID:12514664|REF_RGD_ID:1579982 11965159 NPPA natriuretic peptide A gene DOID:6000 congestive heart failure ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11136700|PMID:16101196|PMID:1647690|PMID:8112904 11965159 NPPA natriuretic peptide A gene DOID:6000 congestive heart failure ISO RGD:730878 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:heart,plasma PMID:11421854|REF_RGD_ID:1580139 11965159 NPPA natriuretic peptide A gene DOID:6000 congestive heart failure ISO RGD:730878 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:2143809|REF_RGD_ID:1580140 11965159 NPPA natriuretic peptide A gene DOID:6000 congestive heart failure severity ISO RGD:730878 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:23566312|REF_RGD_ID:7247714 11965159 NPPA natriuretic peptide A gene DOID:6000 congestive heart failure treatment ISO RGD:3193 D RGD:9068941 20200609 RGD PMID:23931972|REF_RGD_ID:7297049 11965159 NPPA natriuretic peptide A gene DOID:630 genetic disease ISO RGD:730878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11965159 NPPA natriuretic peptide A gene DOID:6432 pulmonary hypertension ISO RGD:3193 D RGD:9068941 20200609 RGD PMID:2136863|REF_RGD_ID:7247720 11965159 NPPA natriuretic peptide A gene DOID:784 chronic kidney disease disease_progression ISO RGD:730878 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19052536|REF_RGD_ID:7247723 11965159 NPPA natriuretic peptide A gene DOID:8283 peritonitis ISO RGD:730878 D RGD:9068941 20200609 RGD PMID:23422200|REF_RGD_ID:7247713 11965159 NPPA natriuretic peptide A gene DOID:8725 vascular dementia ISO RGD:730878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:28492532|PMID:33268848 11965159 NPPA natriuretic peptide A gene DOID:8947 diabetic retinopathy ISO RGD:730878 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor PMID:15273657|REF_RGD_ID:2313589 11965159 NPPA natriuretic peptide A gene DOID:9000064 Cardiac Arrhythmias ISO RGD:730878 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:17460430|PMID:25741868|PMID:28492532 11965159 NPPA natriuretic peptide A gene DOID:9000641 Pain ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:13679232 11965159 NPPA natriuretic peptide A gene DOID:9000965 Neoplasm Metastasis ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18717826 11965159 NPPA natriuretic peptide A gene DOID:9001443 Hypercapnia ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11311734 11965159 NPPA natriuretic peptide A gene DOID:9002165 Diabetic Nephropathies ISO RGD:3193 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:blood PMID:10381153|REF_RGD_ID:2313592 11965159 NPPA natriuretic peptide A gene DOID:9002165 Diabetic Nephropathies ISO RGD:730878 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma PMID:10404802|REF_RGD_ID:7247731 11965159 NPPA natriuretic peptide A gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:730878 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism: :2238T>C (human) PMID:15111511|REF_RGD_ID:2313590 11965159 NPPA natriuretic peptide A gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:730878 D RGD:9068941 20200609 RGD DNA:polymorphism:intron PMID:9681733|REF_RGD_ID:2313593 11965159 NPPA natriuretic peptide A gene DOID:9002304 Prostatic Neoplasms ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18225537 11965159 NPPA natriuretic peptide A gene DOID:9002669 Hypoxia ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11311734 11965159 NPPA natriuretic peptide A gene DOID:9003919 Urination Disorders ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8318687 11965159 NPPA natriuretic peptide A gene DOID:9003936 Cardiomegaly ISO RGD:11003 D RGD:9068941 20221027 RGD mRNA, protein:increased expression:heart (mouse) PMID:26597775|REF_RGD_ID:11554891 11965159 NPPA natriuretic peptide A gene DOID:9003936 Cardiomegaly ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12224825|PMID:18056528|PMID:20886221|PMID:21242511|PMID:21297083|PMID:22083722 11965159 NPPA natriuretic peptide A gene DOID:9003936 Cardiomegaly ameliorates ISO RGD:11003 D RGD:9068941 20230415 RGD PMID:24275554|REF_RGD_ID:11252017 11965159 NPPA natriuretic peptide A gene DOID:9003936 Cardiomegaly treatment ISO RGD:11003 D RGD:9068941 20221111 RGD PMID:23188126|REF_RGD_ID:155663352 11965159 NPPA natriuretic peptide A gene DOID:9003936 Cardiomegaly treatment ISO RGD:3193 D RGD:9068941 20200609 RGD PMID:23905381|REF_RGD_ID:7297051 11965159 NPPA natriuretic peptide A gene DOID:9004283 Transplant Rejection treatment ISO RGD:730878 D RGD:9068941 20200609 RGD PMID:23826817|REF_RGD_ID:7297054 11965159 NPPA natriuretic peptide A gene DOID:9004464 Skin Neoplasms ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18004088 11965159 NPPA natriuretic peptide A gene DOID:9004610 Acute Lung Injury ISO RGD:730878 D RGD:9068941 20200609 RGD PMID:23422200|REF_RGD_ID:7247713 11965159 NPPA natriuretic peptide A gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3193 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic;mRNA:increased expression:heart PMID:24013683|REF_RGD_ID:7297044 11965159 NPPA natriuretic peptide A gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3193 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:16272201|REF_RGD_ID:1580154 11965159 NPPA natriuretic peptide A gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10755198|PMID:9455993 11965159 NPPA natriuretic peptide A gene DOID:9005172 Lung Neoplasms ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18717826 11965159 NPPA natriuretic peptide A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3193 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:15789000|REF_RGD_ID:1580773 11965159 NPPA natriuretic peptide A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3193 D RGD:9068941 20200609 RGD protein:increased expression:plasma, kidney, heart; PMID:17151304|REF_RGD_ID:7248602 11965159 NPPA natriuretic peptide A gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:730878 D RGD:9068941 20200609 RGD PMID:19298916|REF_RGD_ID:7247719 11965159 NPPA natriuretic peptide A gene DOID:9006024 Hypotension ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2951327|PMID:2961279 11965159 NPPA natriuretic peptide A gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3193 D RGD:9068941 20200609 RGD PMID:2136863|REF_RGD_ID:7247720 11965159 NPPA natriuretic peptide A gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:730878 D RGD:9068941 20200609 RGD PMID:20471588|REF_RGD_ID:7247717 11965159 NPPA natriuretic peptide A gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:3193 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23497378|REF_RGD_ID:7297056 11965159 NPPA natriuretic peptide A gene DOID:9007096 Stroke susceptibility ISO RGD:730878 D RGD:9068941 20200609 RGD DNA:missense:exon:rs5063(human) PMID:25452597|REF_RGD_ID:14696737 11965159 NPPA natriuretic peptide A gene DOID:9007096 Stroke susceptibility ISO RGD:730878 D RGD:9068941 20200609 RGD DNA:polymorphism:TC2238 PMID:15017020|REF_RGD_ID:1580137 11965159 NPPA natriuretic peptide A gene DOID:9007096 Stroke susceptibility ISO RGD:730878 D RGD:9068941 20210730 RGD DNA:SNP, missense mutation:intron 2, CDS:1837G>A, 664G>A (p.V7M) (human) PMID:10525492|REF_RGD_ID:149735577 11965159 NPPA natriuretic peptide A gene DOID:9007102 Myocardial Ischemia ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1830552 11965159 NPPA natriuretic peptide A gene DOID:9007174 Ventricular Remodeling ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20886221 11965159 NPPA natriuretic peptide A gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:11003 D RGD:9068941 20230406 RGD associated with myocardial infarction PMID:25726944|REF_RGD_ID:11252030 11965159 NPPA natriuretic peptide A gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:730878 D RGD:7240710 20180130 OMIM 11965159 NPPA natriuretic peptide A gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:730878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:15017020|PMID:17460430|PMID:17576681|PMID:17984371|PMID:18614783|PMID:19646991|PMID:19702001|PMID:20064500|PMID:20543198|PMID:22400494|PMID:22575314|PMID:22818067|PMID:23275345|PMID:23529183|PMID:23838598|PMID:24033266|PMID:24041948|PMID:25401746|PMID:25410959|PMID:25467552|PMID:25741868|PMID:26200358|PMID:26383259|PMID:28492532|PMID:30847666|PMID:31034774|PMID:31983221|PMID:33268848|PMID:33552729|PMID:6225642|PMID:9536098 11965159 NPPA natriuretic peptide A gene DOID:9009073 Diaphragmatic Hernia ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11584395 11965159 NPPA natriuretic peptide A gene DOID:9352 type 2 diabetes mellitus ISO RGD:11003 D RGD:9068941 20200609 RGD PMID:19675071|REF_RGD_ID:2313586 11965159 NPPA natriuretic peptide A gene DOID:9775 diastolic heart failure ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 11965159 NPPA natriuretic peptide A gene DOID:9970 obesity ISO RGD:730878 D RGD:9068941 20200609 RGD associated with Heart Failure; PMID:23566312|REF_RGD_ID:7247714 11965167 SEMA3E semaphorin 3E gene DOID:0050834 CHARGE syndrome ISO RGD:1322177 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:15235037|PMID:17576681|PMID:25640679|PMID:25741868|PMID:25985275|PMID:26467025|PMID:27854218|PMID:28492532|PMID:32870266|PMID:9536098 11965167 SEMA3E semaphorin 3E gene DOID:0050834 CHARGE syndrome ISO RGD:1322177 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:15235037|PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:25985275|PMID:26467025|PMID:28492532|PMID:30773290|PMID:32441320|PMID:32870266|PMID:35628442|PMID:9536098 11965167 SEMA3E semaphorin 3E gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1322177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25741868 11965167 SEMA3E semaphorin 3E gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1322177 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A 11965167 SEMA3E semaphorin 3E gene DOID:13938 amenorrhea ISO RGD:1322177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:28492532|PMID:32870266 11965167 SEMA3E semaphorin 3E gene DOID:1826 epilepsy ISO RGD:1322177 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 11965167 SEMA3E semaphorin 3E gene DOID:224 transient cerebral ischemia disease_progression ISO RGD:1310973 D RGD:9068941 20221117 RGD PMID:30653356|REF_RGD_ID:155663383 11965167 SEMA3E semaphorin 3E gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11965167 SEMA3E semaphorin 3E gene DOID:5419 schizophrenia ISO RGD:1322177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11965167 SEMA3E semaphorin 3E gene DOID:630 genetic disease ISO RGD:1322177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11965204 TMEM145 transmembrane protein 145 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11965204 TMEM145 transmembrane protein 145 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1602052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11965204 TMEM145 transmembrane protein 145 gene DOID:2340 craniosynostosis ISO RGD:1602052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11965204 TMEM145 transmembrane protein 145 gene DOID:5419 schizophrenia ISO RGD:1602052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11965204 TMEM145 transmembrane protein 145 gene DOID:630 genetic disease ISO RGD:1602052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11965204 TMEM145 transmembrane protein 145 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1602052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11965204 TMEM145 transmembrane protein 145 gene DOID:9269 maple syrup urine disease ISO RGD:1602052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11965226 EEF1AKMT2 EEF1A lysine methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1604914 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11965242 MRTFB myocardin related transcription factor B gene DOID:0060040 pervasive developmental disorder ISO RGD:1345947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20442744 11965242 MRTFB myocardin related transcription factor B gene DOID:0110848 xeroderma pigmentosum group F ISO RGD:1345947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group F PMID:28492532 11965242 MRTFB myocardin related transcription factor B gene DOID:630 genetic disease ISO RGD:1345947 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11965277 TRIM55 tripartite motif containing 55 gene DOID:630 genetic disease ISO RGD:1603290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11965295 LOC100992184 SLC22A18 antisense RNA gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1352553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11965295 LOC100992184 SLC22A18 antisense RNA gene DOID:0080773 delta beta-thalassemia ISO RGD:1352553 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11965295 LOC100992184 SLC22A18 antisense RNA gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1352553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11965295 LOC100992184 SLC22A18 antisense RNA gene DOID:630 genetic disease ISO RGD:1352553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11965308 CAV1 caveolin 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 11965308 CAV1 caveolin 1 gene DOID:0050440 familial partial lipodystrophy ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19793595 11965308 CAV1 caveolin 1 gene DOID:0060224 atrial fibrillation ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062060|PMID:22544366|PMID:29892015 11965308 CAV1 caveolin 1 gene DOID:0111137 congenital generalized lipodystrophy type 3 ISO RGD:619568 D RGD:7240710 20180130 OMIM 11965308 CAV1 caveolin 1 gene DOID:0111137 congenital generalized lipodystrophy type 3 ISO RGD:619568 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 3 PMID:18211975|PMID:25356970|PMID:25741868|PMID:25898808|PMID:28492532|PMID:29231014|PMID:31727138|PMID:33264630|PMID:34643546 11965308 CAV1 caveolin 1 gene DOID:10283 prostate cancer ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:11170154|REF_RGD_ID:2289112 11965308 CAV1 caveolin 1 gene DOID:10283 prostate cancer ISO RGD:619568 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14506154|REF_RGD_ID:2289109 11965308 CAV1 caveolin 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:619568 D RGD:9068941 20200609 RGD PMID:15948133|REF_RGD_ID:2289104 11965308 CAV1 caveolin 1 gene DOID:10325 silicosis ISO RGD:619568 D RGD:9068941 20230128 CTD CTD Direct Evidence: marker/mechanism PMID:36053221 11965308 CAV1 caveolin 1 gene DOID:10652 Alzheimer's disease ISO RGD:1553438 D RGD:9068941 20220825 MouseDO OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 11965308 CAV1 caveolin 1 gene DOID:1067 open-angle glaucoma ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20835238 11965308 CAV1 caveolin 1 gene DOID:1070 primary open angle glaucoma ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs4236601 (human) PMID:20835238|REF_RGD_ID:8661783 11965308 CAV1 caveolin 1 gene DOID:1070 primary open angle glaucoma ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:24572674|REF_RGD_ID:8661770 11965308 CAV1 caveolin 1 gene DOID:1070 primary open angle glaucoma no_association ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs4236601 (human) PMID:22876122|REF_RGD_ID:8661776 11965308 CAV1 caveolin 1 gene DOID:10763 hypertension ISO RGD:2280 D RGD:9068941 20200609 RGD protein:increased expression:artery smooth muscle, blood vessel endothelial cell PMID:17986358|REF_RGD_ID:2289116 11965308 CAV1 caveolin 1 gene DOID:10763 hypertension ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1798635 11965308 CAV1 caveolin 1 gene DOID:11054 urinary bladder cancer severity ISO RGD:619568 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:12866378|REF_RGD_ID:2289110 11965308 CAV1 caveolin 1 gene DOID:11446 sciatic neuropathy ISO RGD:2280 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord, blood vessel PMID:21795534|REF_RGD_ID:6784526 11965308 CAV1 caveolin 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1553438 D RGD:9068941 20220825 MouseDO 11965308 CAV1 caveolin 1 gene DOID:12689 acoustic neuroma ISO RGD:619568 D RGD:9068941 20200609 RGD PMID:20881564|REF_RGD_ID:8661782 11965308 CAV1 caveolin 1 gene DOID:127 leiomyoma ISO RGD:619568 D RGD:9068941 20200609 RGD protein:increased expression:uterus PMID:17952758|REF_RGD_ID:2296031 11965308 CAV1 caveolin 1 gene DOID:13544 low tension glaucoma no_association ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs4236601 (human) PMID:23743525|REF_RGD_ID:8661774 11965308 CAV1 caveolin 1 gene DOID:13641 exfoliation syndrome no_association ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs4236601 (human) PMID:20835238|REF_RGD_ID:8661783 11965308 CAV1 caveolin 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11965308 CAV1 caveolin 1 gene DOID:1459 hypothyroidism ISO RGD:2280 D RGD:9068941 20200609 RGD protein:increased expression:cerebellum PMID:21611807|REF_RGD_ID:6784532 11965308 CAV1 caveolin 1 gene DOID:1577 limited scleroderma no_association ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNPs:3' utr, intron: (rs9920, rs729949, rs3815412) (human) PMID:22402147|REF_RGD_ID:8661768 11965308 CAV1 caveolin 1 gene DOID:1577 limited scleroderma susceptibility ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNPs:enhancer, intron:multiple PMID:22402147|REF_RGD_ID:8661768 11965308 CAV1 caveolin 1 gene DOID:1580 diffuse scleroderma no_association ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNPs:enhancer, intron:multiple PMID:22402147|REF_RGD_ID:8661768 11965308 CAV1 caveolin 1 gene DOID:1580 diffuse scleroderma susceptibility ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNPs:intron, 3' utr: (rs729949, rs3815412, rs9920) (human) PMID:22402147|REF_RGD_ID:8661768 11965308 CAV1 caveolin 1 gene DOID:1612 breast cancer ISO RGD:1553438 D RGD:9068941 20220825 MouseDO OMIM:114480 11965308 CAV1 caveolin 1 gene DOID:1612 breast cancer ISO RGD:619568 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, breast PMID:15375584|REF_RGD_ID:2289105 11965308 CAV1 caveolin 1 gene DOID:1612 breast cancer ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNPs: :14713G>A (rs3807987), 29107T>A (rs7804372) (human) PMID:21965771|REF_RGD_ID:8661769 11965308 CAV1 caveolin 1 gene DOID:1612 breast cancer disease_progression ISO RGD:619568 D RGD:9068941 20200609 RGD PMID:21585620|REF_RGD_ID:8661766 11965308 CAV1 caveolin 1 gene DOID:1612 breast cancer no_association ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:21965771|REF_RGD_ID:8661769 11965308 CAV1 caveolin 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1553438 D RGD:9068941 20200609 RGD PMID:23267770|REF_RGD_ID:8661786 11965308 CAV1 caveolin 1 gene DOID:1909 melanoma disease_progression ISO RGD:619568 D RGD:9068941 20200609 RGD PMID:22134245|REF_RGD_ID:8661767 11965308 CAV1 caveolin 1 gene DOID:1936 atherosclerosis treatment ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:23675421|REF_RGD_ID:8662275 11965308 CAV1 caveolin 1 gene DOID:224 transient cerebral ischemia ISO RGD:1553438 D RGD:9068941 20200609 RGD PMID:22007835|REF_RGD_ID:8661794 11965308 CAV1 caveolin 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:22007835|REF_RGD_ID:8661794 11965308 CAV1 caveolin 1 gene DOID:2316 brain ischemia ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:16417587|REF_RGD_ID:1581152 11965308 CAV1 caveolin 1 gene DOID:2377 multiple sclerosis ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:repeats, haplotypes:multiple PMID:19828204|REF_RGD_ID:8661778 11965308 CAV1 caveolin 1 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:619568 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:16328005|REF_RGD_ID:2289103 11965308 CAV1 caveolin 1 gene DOID:3008 invasive ductal carcinoma no_association ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.P132L (human) PMID:21909981|REF_RGD_ID:8661779 11965308 CAV1 caveolin 1 gene DOID:3070 high grade glioma ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:22528460|REF_RGD_ID:6784517 11965308 CAV1 caveolin 1 gene DOID:3459 breast carcinoma ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.P132L (human) PMID:11289096|REF_RGD_ID:8661775 11965308 CAV1 caveolin 1 gene DOID:3459 breast carcinoma ISO RGD:619568 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17915016|REF_RGD_ID:2289101 11965308 CAV1 caveolin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1553438 D RGD:9068941 20200609 RGD PMID:18759267|REF_RGD_ID:8661773 11965308 CAV1 caveolin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:619568 D RGD:9068941 20230128 CTD CTD Direct Evidence: marker/mechanism PMID:36053221 11965308 CAV1 caveolin 1 gene DOID:4001 ovarian carcinoma ISO RGD:619568 D RGD:9068941 20200609 RGD PMID:11032026|REF_RGD_ID:2289113 11965308 CAV1 caveolin 1 gene DOID:4001 ovarian carcinoma ISO RGD:619568 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35622184 11965308 CAV1 caveolin 1 gene DOID:418 systemic scleroderma ISO RGD:619568 D RGD:9068941 20200609 RGD protein:decreased expression:lung, skin PMID:18759267|REF_RGD_ID:8661773 11965308 CAV1 caveolin 1 gene DOID:418 systemic scleroderma susceptibility ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNPs:enhancer, intron: (rs7795356, rs926198, rs959173) (human) PMID:22402147|REF_RGD_ID:8661768 11965308 CAV1 caveolin 1 gene DOID:4450 renal cell carcinoma ISO RGD:619568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:28492532 11965308 CAV1 caveolin 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:619568 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:15247769|REF_RGD_ID:2289107 11965308 CAV1 caveolin 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:619568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11965308 CAV1 caveolin 1 gene DOID:630 genetic disease ISO RGD:619568 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356970|PMID:25741868|PMID:25898808|PMID:28492532 11965308 CAV1 caveolin 1 gene DOID:6432 pulmonary hypertension ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:15353500|REF_RGD_ID:1581153 11965308 CAV1 caveolin 1 gene DOID:6432 pulmonary hypertension ISO RGD:619568 D RGD:9068941 20200609 RGD idiopathic pulmonary arterial hypertension (IPAH) PMID:17470567|REF_RGD_ID:1625360 11965308 CAV1 caveolin 1 gene DOID:6432 pulmonary hypertension treatment ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:23538027|REF_RGD_ID:8662276 11965308 CAV1 caveolin 1 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1553438 D RGD:9068941 20200609 RGD associated with Hypertension PMID:24329494|REF_RGD_ID:8661789 11965308 CAV1 caveolin 1 gene DOID:8398 osteoarthritis ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:16508959|REF_RGD_ID:10043354 11965308 CAV1 caveolin 1 gene DOID:8893 psoriasis ISO RGD:619568 D RGD:9068941 20200609 RGD protein:decreased expression:skin PMID:12366416|REF_RGD_ID:8661784 11965308 CAV1 caveolin 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2280 D RGD:9068941 20200609 RGD protein:increased phosphorylation:spinal cord PMID:17275798|REF_RGD_ID:2289124 11965308 CAV1 caveolin 1 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:619568 D RGD:9068941 20200609 RGD associated with Melanoma PMID:22134245|REF_RGD_ID:8661767 11965308 CAV1 caveolin 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11965308 CAV1 caveolin 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1553438 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:15355971|REF_RGD_ID:2289106 11965308 CAV1 caveolin 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 11965308 CAV1 caveolin 1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:619568 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:15334058|REF_RGD_ID:8661780 11965308 CAV1 caveolin 1 gene DOID:9001140 Lipodystrophy with Congenital Cataracts and Neurodegeneration ISO RGD:619568 D RGD:7240710 20180130 OMIM 11965308 CAV1 caveolin 1 gene DOID:9001140 Lipodystrophy with Congenital Cataracts and Neurodegeneration ISO RGD:619568 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome PMID:11739396|PMID:18211975|PMID:18237401|PMID:25356970|PMID:25741868|PMID:25898808|PMID:34643546 11965308 CAV1 caveolin 1 gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:23764359|REF_RGD_ID:8662277 11965308 CAV1 caveolin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11965308 CAV1 caveolin 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:619568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease PMID:25741868|PMID:30029678 11965308 CAV1 caveolin 1 gene DOID:9002221 Hyperplasia ISO RGD:1553438 D RGD:9068941 20200609 RGD PMID:12368209|REF_RGD_ID:8661765 11965308 CAV1 caveolin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1553438 D RGD:9068941 20200609 RGD PMID:11751529|REF_RGD_ID:2289111 11965308 CAV1 caveolin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15948133|PMID:22159333 11965308 CAV1 caveolin 1 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1553438 D RGD:9068941 20200609 RGD PMID:17786030|REF_RGD_ID:2289102 11965308 CAV1 caveolin 1 gene DOID:9002311 Experimental Autoimmune Myocarditis ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:17060028|REF_RGD_ID:1625364 11965308 CAV1 caveolin 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15674352 11965308 CAV1 caveolin 1 gene DOID:9003936 Cardiomegaly ISO RGD:2280 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:17487232|REF_RGD_ID:2289120 11965308 CAV1 caveolin 1 gene DOID:9003936 Cardiomegaly ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17487232 11965308 CAV1 caveolin 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2280 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17293479|REF_RGD_ID:2289123 11965308 CAV1 caveolin 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:24919947|REF_RGD_ID:10045573 11965308 CAV1 caveolin 1 gene DOID:9004657 Weight Gain ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11965308 CAV1 caveolin 1 gene DOID:9004874 Dermal Fibrosis ISO RGD:1553438 D RGD:9068941 20200609 RGD PMID:18759267|REF_RGD_ID:8661773 11965308 CAV1 caveolin 1 gene DOID:9005172 Lung Neoplasms ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29247004 11965308 CAV1 caveolin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1553438 D RGD:9068941 20200609 RGD protein:decreased expression:mammary gland PMID:9685399|REF_RGD_ID:2289100 11965308 CAV1 caveolin 1 gene DOID:9005233 Experimental Mammary Neoplasms onset ISO RGD:1553438 D RGD:9068941 20200609 RGD PMID:15355971|REF_RGD_ID:2289106 11965308 CAV1 caveolin 1 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:619568 D RGD:9068941 20200609 RGD PMID:15334058|REF_RGD_ID:8661780 11965308 CAV1 caveolin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:25086377|REF_RGD_ID:10045572 11965308 CAV1 caveolin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18266981 11965308 CAV1 caveolin 1 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:2280 D RGD:9068941 20200609 RGD protein:increased phosphorylation:sciatic nerve PMID:17234162|REF_RGD_ID:2289125 11965308 CAV1 caveolin 1 gene DOID:9007702 Carcinogenesis ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29247004 11965308 CAV1 caveolin 1 gene DOID:9007888 Primary Pulmonary Hypertension, 3 ISO RGD:619568 D RGD:7240710 20180130 OMIM 11965308 CAV1 caveolin 1 gene DOID:9007888 Primary Pulmonary Hypertension, 3 ISO RGD:619568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3 PMID:22474227|PMID:25741868|PMID:26387786|PMID:28492532|PMID:29231014|PMID:31727138 11965308 CAV1 caveolin 1 gene DOID:9007889 Nephrogenic Fibrosing Dermopathy no_association ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs4730751) (human) PMID:23051628|REF_RGD_ID:8661777 11965308 CAV1 caveolin 1 gene DOID:9008217 Hemorrhage ISO RGD:2280 D RGD:9068941 20200609 RGD protein:decreased expression:myocardium PMID:22954805|REF_RGD_ID:8661809 11965308 CAV1 caveolin 1 gene DOID:9008824 Sarcopenia severity ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNP:intron:14713G>A (rs3807987) (human) PMID:24815842|REF_RGD_ID:10045568 11965308 CAV1 caveolin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19234134|PMID:19288272|PMID:20562527|PMID:21501481 11965308 CAV1 caveolin 1 gene DOID:9351 diabetes mellitus ISO RGD:619568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 11965308 CAV1 caveolin 1 gene DOID:9743 diabetic neuropathy ISO RGD:1553438 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19675140|REF_RGD_ID:8661787 11965308 CAV1 caveolin 1 gene DOID:9970 obesity ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:22492718|REF_RGD_ID:6784520 11965321 HAPLN1 hyaluronan and proteoglycan link protein 1 gene DOID:14789 spondyloepiphyseal dysplasia congenita ISO RGD:737597 D RGD:9068941 20220825 MouseDO OMIM:183900 11965321 HAPLN1 hyaluronan and proteoglycan link protein 1 gene DOID:630 genetic disease ISO RGD:1346855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11965321 HAPLN1 hyaluronan and proteoglycan link protein 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1346855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 11965321 HAPLN1 hyaluronan and proteoglycan link protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11965321 HAPLN1 hyaluronan and proteoglycan link protein 1 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1346855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9988279 11965321 HAPLN1 hyaluronan and proteoglycan link protein 1 gene DOID:9007661 Dwarfism ISO RGD:1346855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9988279 11965321 HAPLN1 hyaluronan and proteoglycan link protein 1 gene DOID:9007661 Dwarfism ISO RGD:737597 D RGD:9068941 20200609 RGD PMID:9988279|REF_RGD_ID:734826 11965321 HAPLN1 hyaluronan and proteoglycan link protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1346855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 11965321 HAPLN1 hyaluronan and proteoglycan link protein 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1346855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9988279 11965330 NDFIP2 Nedd4 family interacting protein 2 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1320205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11965330 NDFIP2 Nedd4 family interacting protein 2 gene DOID:630 genetic disease ISO RGD:1320205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11965368 RHNO1 RAD9-HUS1-RAD1 interacting nuclear orphan 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1602857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11965377 SLC25A12 solute carrier family 25 member 12 gene DOID:0050432 Asperger syndrome susceptibility ISO RGD:1313056 D RGD:9068941 20200609 RGD DNA:SNP: :rs6716901(human) PMID:24679184|REF_RGD_ID:13628740 11965377 SLC25A12 solute carrier family 25 member 12 gene DOID:0060041 autism spectrum disorder ISO RGD:1313056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11965377 SLC25A12 solute carrier family 25 member 12 gene DOID:0060041 autism spectrum disorder no_association ISO RGD:1313056 D RGD:9068941 20200609 RGD PMID:17151801|REF_RGD_ID:13628739 11965377 SLC25A12 solute carrier family 25 member 12 gene DOID:0080349 developmental and epileptic encephalopathy 39 ISO RGD:1313056 D RGD:7240710 20180130 OMIM 11965377 SLC25A12 solute carrier family 25 member 12 gene DOID:0080349 developmental and epileptic encephalopathy 39 ISO RGD:1313056 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 39 PMID:17576681|PMID:19641205|PMID:24515575|PMID:25741868|PMID:28492532|PMID:31403263|PMID:9536098 11965377 SLC25A12 solute carrier family 25 member 12 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1313056 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 11965377 SLC25A12 solute carrier family 25 member 12 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1313056 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11965377 SLC25A12 solute carrier family 25 member 12 gene DOID:12849 autistic disorder ISO RGD:1313056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15056512|PMID:18348195 11965377 SLC25A12 solute carrier family 25 member 12 gene DOID:12849 autistic disorder susceptibility ISO RGD:1313056 D RGD:9068941 20200609 RGD DNA:snps:introns:IVS3-21A>G (rs2056202), IVS16+70A>G (rs2292813) (human) PMID:15056512|REF_RGD_ID:1358576 11965377 SLC25A12 solute carrier family 25 member 12 gene DOID:1826 epilepsy ISO RGD:1313056 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11965377 SLC25A12 solute carrier family 25 member 12 gene DOID:630 genetic disease ISO RGD:1313056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11965377 SLC25A12 solute carrier family 25 member 12 gene DOID:7148 rheumatoid arthritis ISO RGD:1313056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 11965403 EIF2B3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:732190 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11965403 EIF2B3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:732190 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:11835386|PMID:16807905|PMID:18263758|PMID:18414213|PMID:19158808|PMID:19909266|PMID:20301435|PMID:22312164|PMID:23932106|PMID:24028880|PMID:25079571|PMID:25326635|PMID:25741868|PMID:25761052|PMID:26162493|PMID:26467025|PMID:28492532|PMID:31072091|PMID:31418856|PMID:31692161|PMID:32180488|PMID:33432707 11965403 EIF2B3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:732190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:28492532 11965403 EIF2B3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:732190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11965403 EIF2B3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:732190 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11965403 EIF2B3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:630 genetic disease ISO RGD:732190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23932106|PMID:28492532 11965403 EIF2B3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:9002704 Leukoencephalopathies ISO RGD:732190 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: CACH syndrome | ClinVar Annotator: match by term: CACH/VWM syndrome PMID:11835386|PMID:16807905|PMID:18263758|PMID:18414213|PMID:19158808|PMID:19909266|PMID:20301435|PMID:21484434|PMID:22312164|PMID:23932106|PMID:24028880|PMID:25079571|PMID:25326635|PMID:25741868|PMID:25761052|PMID:26162493|PMID:26467025|PMID:28492532|PMID:31072091 11965403 EIF2B3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:9002704 Leukoencephalopathies ISO RGD:732190 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CACH/VWM syndrome PMID:11835386|PMID:16807905|PMID:18263758|PMID:18414213|PMID:19158808|PMID:19909266|PMID:20301435|PMID:22312164|PMID:23932106|PMID:24028880|PMID:25079571|PMID:25326635|PMID:25741868|PMID:25761052|PMID:26162493|PMID:26467025|PMID:28492532|PMID:31072091|PMID:31418856|PMID:31692161|PMID:32180488|PMID:33432707 11965403 EIF2B3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:9005348 Leukoencephalopathy with Vanishing White Matter 1 ISO RGD:732190 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1 PMID:11835386|PMID:16807905|PMID:18263758|PMID:18414213|PMID:19158808|PMID:19909266|PMID:20301435|PMID:22312164|PMID:23932106|PMID:24028880|PMID:25079571|PMID:25326635|PMID:25741868|PMID:25761052|PMID:26162493|PMID:26467025|PMID:28492532|PMID:31072091|PMID:31418856|PMID:31692161|PMID:32180488|PMID:33432707 11965403 EIF2B3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:9008859 Leukoencephalopathy with Vanishing White Matter 3 ISO RGD:732190 D RGD:7240710 20230505 OMIM 11965403 EIF2B3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:9008859 Leukoencephalopathy with Vanishing White Matter 3 ISO RGD:732190 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 3 PMID:11835386|PMID:15776425|PMID:19158808|PMID:20301435|PMID:21484434|PMID:22312164|PMID:25079571|PMID:25761052|PMID:28492532|PMID:31418856 11965421 PRM3 protamine 3 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1345034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 11965421 PRM3 protamine 3 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1345034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 11965421 PRM3 protamine 3 gene DOID:5812 MHC class II deficiency ISO RGD:1345034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11965421 PRM3 protamine 3 gene DOID:630 genetic disease ISO RGD:1345034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11965426 CCER1 coiled-coil glutamate rich protein 1 gene DOID:630 genetic disease ISO RGD:1606687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11965437 XYLT2 xylosyltransferase 2 gene DOID:0080322 polycystic kidney disease ISO RGD:731565 D RGD:9068941 20220825 MouseDO 11965437 XYLT2 xylosyltransferase 2 gene DOID:12347 osteogenesis imperfecta ISO RGD:731564 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:16571645|PMID:25741868|PMID:28492532 11965437 XYLT2 xylosyltransferase 2 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:731564 D RGD:7240710 20180130 OMIM 11965437 XYLT2 xylosyltransferase 2 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:731564 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum | ClinVar Annotator: match by term: Pseudoxanthoma elasticum, modifier of severity of PMID:16571645|PMID:25741868|PMID:28492532 11965437 XYLT2 xylosyltransferase 2 gene DOID:630 genetic disease ISO RGD:731564 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26027496|PMID:26987875|PMID:28492532 11965437 XYLT2 xylosyltransferase 2 gene DOID:9005347 Spondyloocular Syndrome, Autosomal Recessive ISO RGD:731564 D RGD:7240710 20221109 OMIM 11965437 XYLT2 xylosyltransferase 2 gene DOID:9005347 Spondyloocular Syndrome, Autosomal Recessive ISO RGD:731564 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondyloocular syndrome, autosomal recessive PMID:16571645|PMID:25741868|PMID:26027496|PMID:28492532|PMID:30496831 11965457 MAEA macrophage erythroblast attacher, E3 ubiquitin ligase gene DOID:1856 cherubism ISO RGD:1320456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11965457 MAEA macrophage erythroblast attacher, E3 ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1320456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11965457 MAEA macrophage erythroblast attacher, E3 ubiquitin ligase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1320456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22158537 11965468 SLC18A3 solute carrier family 18 member A3 gene DOID:0110671 congenital myasthenic syndrome 6 ISO RGD:732691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial infantile myasthenia PMID:21948486|PMID:25741868|PMID:28492532 11965468 SLC18A3 solute carrier family 18 member A3 gene DOID:0110672 congenital myasthenic syndrome 21 ISO RGD:732691 D RGD:7240710 20190315 OMIM 11965468 SLC18A3 solute carrier family 18 member A3 gene DOID:0110672 congenital myasthenic syndrome 21 ISO RGD:732691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 21 PMID:25741868|PMID:27590285|PMID:28492532 11965468 SLC18A3 solute carrier family 18 member A3 gene DOID:10652 Alzheimer's disease ISO RGD:62364 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex PMID:21333939|REF_RGD_ID:5686673 11965468 SLC18A3 solute carrier family 18 member A3 gene DOID:10652 Alzheimer's disease ISO RGD:732691 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:frontal association cortex PMID:21743130|REF_RGD_ID:5686430 11965468 SLC18A3 solute carrier family 18 member A3 gene DOID:11372 megacolon ISO RGD:732691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11965468 SLC18A3 solute carrier family 18 member A3 gene DOID:12858 Huntington's disease ISO RGD:62364 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brain, spinal cord PMID:16987871|REF_RGD_ID:5686805 11965468 SLC18A3 solute carrier family 18 member A3 gene DOID:12858 Huntington's disease ISO RGD:732691 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:striatum PMID:16987871|REF_RGD_ID:5686805 11965468 SLC18A3 solute carrier family 18 member A3 gene DOID:1824 status epilepticus ISO RGD:62364 D RGD:9068941 20200609 RGD PMID:18394802|REF_RGD_ID:5686685 11965468 SLC18A3 solute carrier family 18 member A3 gene DOID:2841 asthma ISO RGD:62072 D RGD:9068941 20200609 RGD PMID:17328924|REF_RGD_ID:5686690 11965468 SLC18A3 solute carrier family 18 member A3 gene DOID:3635 congenital myasthenic syndrome ISO RGD:732691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11965468 SLC18A3 solute carrier family 18 member A3 gene DOID:365 bladder disease ISO RGD:62072 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries;protein:decreased expression:axon terminus PMID:17229408|REF_RGD_ID:5686699 11965468 SLC18A3 solute carrier family 18 member A3 gene DOID:5419 schizophrenia ISO RGD:732691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11965468 SLC18A3 solute carrier family 18 member A3 gene DOID:630 genetic disease ISO RGD:732691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11965468 SLC18A3 solute carrier family 18 member A3 gene DOID:9000998 Brain Injuries ISO RGD:62072 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:18848922|REF_RGD_ID:5686682 11965468 SLC18A3 solute carrier family 18 member A3 gene DOID:9005930 Endotoxemia ISO RGD:62072 D RGD:9068941 20200609 RGD protein:decreased expression:parietal cortex PMID:17306796|REF_RGD_ID:5686693 11965473 RACGAP1 Rac GTPase activating protein 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1314228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11965473 RACGAP1 Rac GTPase activating protein 1 gene DOID:630 genetic disease ISO RGD:1314228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11965473 RACGAP1 Rac GTPase activating protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1314228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11965473 RACGAP1 Rac GTPase activating protein 1 gene DOID:9002225 Congenital Dyserythropoietic Anemia Type IIIb ISO RGD:1314228 D RGD:7240710 20220330 OMIM 11965473 RACGAP1 Rac GTPase activating protein 1 gene DOID:9002225 Congenital Dyserythropoietic Anemia Type IIIb ISO RGD:1314228 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive PMID:34818416|PMID:36200420 11965517 RNPS1 RNA binding protein with serine rich domain 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1316766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 11965517 RNPS1 RNA binding protein with serine rich domain 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1316766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11965517 RNPS1 RNA binding protein with serine rich domain 1 gene DOID:1826 epilepsy ISO RGD:1316766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11965517 RNPS1 RNA binding protein with serine rich domain 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1316766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11965517 RNPS1 RNA binding protein with serine rich domain 1 gene DOID:2871 endometrial carcinoma ISO RGD:1316766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 11965517 RNPS1 RNA binding protein with serine rich domain 1 gene DOID:630 genetic disease ISO RGD:1316766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11965545 BVES blood vessel epicardial substance gene DOID:0110290 autosomal recessive limb-girdle muscular dystrophy type 2X ISO RGD:1344210 D RGD:7240710 20190315 OMIM 11965545 BVES blood vessel epicardial substance gene DOID:0110290 autosomal recessive limb-girdle muscular dystrophy type 2X ISO RGD:1344210 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2X PMID:25741868|PMID:26642364|PMID:28492532|PMID:31119192|PMID:35660068 11965545 BVES blood vessel epicardial substance gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1344210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:25741868|PMID:31119192 11965545 BVES blood vessel epicardial substance gene DOID:630 genetic disease ISO RGD:1344210 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11965569 TGOLN2 trans-golgi network protein 2 gene DOID:50 thyroid gland disease ISO RGD:1351226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 11965569 TGOLN2 trans-golgi network protein 2 gene DOID:630 genetic disease ISO RGD:1351226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11965569 TGOLN2 trans-golgi network protein 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1624067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11965577 PRSS12 serine protease 12 gene DOID:0081177 autosomal recessive intellectual developmental disorder 1 ISO RGD:733403 D RGD:7240710 20180130 OMIM 11965577 PRSS12 serine protease 12 gene DOID:0081177 autosomal recessive intellectual developmental disorder 1 ISO RGD:733403 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 1 PMID:12459588|PMID:18414213|PMID:25741868|PMID:28492532 11965577 PRSS12 serine protease 12 gene DOID:1059 intellectual disability ISO RGD:733403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability PMID:18414213 11965577 PRSS12 serine protease 12 gene DOID:2843 long QT syndrome ISO RGD:733403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11965577 PRSS12 serine protease 12 gene DOID:630 genetic disease ISO RGD:733403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11965577 PRSS12 serine protease 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11965594 SLC2A2 solute carrier family 2 member 2 gene DOID:0080074 neural tube defect ISO RGD:11306 D RGD:9068941 20200609 RGD associated with Hyperglycemia PMID:17235524|REF_RGD_ID:2312360 11965594 SLC2A2 solute carrier family 2 member 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:730861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:17636114|PMID:24033266|PMID:25741868|PMID:26495765|PMID:27035118|PMID:28492532|PMID:34669123 11965594 SLC2A2 solute carrier family 2 member 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:730861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:11810292|PMID:13480676|PMID:15397919|PMID:16199547|PMID:17636114|PMID:22145468|PMID:24033266|PMID:24718840|PMID:25741868|PMID:26495765|PMID:27035118|PMID:27487919|PMID:28492532|PMID:34669123|PMID:35738466|PMID:8027028|PMID:8063045|PMID:9354798 11965594 SLC2A2 solute carrier family 2 member 2 gene DOID:1062 Fanconi syndrome ISO RGD:730861 D RGD:7240710 20180130 OMIM 11965594 SLC2A2 solute carrier family 2 member 2 gene DOID:1062 Fanconi syndrome ISO RGD:730861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome | ClinVar Annotator: match by term: Glycogen storage disease XI PMID:10697967|PMID:10987651|PMID:11044475|PMID:11810292|PMID:13480676|PMID:14551916|PMID:15397919|PMID:16199547|PMID:17576681|PMID:17636114|PMID:18414213|PMID:22145468|PMID:23271022|PMID:23986439|PMID:24033266|PMID:24718840|PMID:25741868|PMID:26495765|PMID:27035118|PMID:27487919|PMID:27738794|PMID:28492532|PMID:34669123|PMID:3839598|PMID:6274135|PMID:7564233|PMID:7632512|PMID:8362811|PMID:9266402|PMID:9354798|PMID:9536098|PMID:9686354 11965594 SLC2A2 solute carrier family 2 member 2 gene DOID:1062 Fanconi syndrome ISO RGD:730861 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:10697967|PMID:10987651|PMID:11044475|PMID:11810292|PMID:13480676|PMID:14551916|PMID:15397919|PMID:16199547|PMID:17576681|PMID:17636114|PMID:18414213|PMID:22145468|PMID:23271022|PMID:23986439|PMID:24033266|PMID:24718840|PMID:25741868|PMID:26495765|PMID:27035118|PMID:27487919|PMID:27738794|PMID:28492532|PMID:34669123|PMID:35738466|PMID:3839598|PMID:6274135|PMID:7564233|PMID:7632512|PMID:8362811|PMID:9266402|PMID:9354798|PMID:9536098|PMID:9686354 11965594 SLC2A2 solute carrier family 2 member 2 gene DOID:1062 Fanconi syndrome ISO RGD:730861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:10697967|PMID:10987651|PMID:11044475|PMID:11810292|PMID:13480676|PMID:14551916|PMID:15397919|PMID:16199547|PMID:17576681|PMID:17636114|PMID:18414213|PMID:21271664|PMID:22145468|PMID:22214819|PMID:22865906|PMID:23271022|PMID:23986439|PMID:24033266|PMID:24718840|PMID:25741868|PMID:25919556|PMID:26495765|PMID:27035118|PMID:27487919|PMID:27738794|PMID:28492532|PMID:30950137|PMID:34669123|PMID:35738466|PMID:3839598|PMID:6274135|PMID:7564233|PMID:7632512|PMID:8027028|PMID:8063045|PMID:8362811|PMID:9266402|PMID:9354798|PMID:9536098|PMID:9686354 11965594 SLC2A2 solute carrier family 2 member 2 gene DOID:2747 glycogen storage disease ISO RGD:730861 D RGD:9068941 20200609 RGD Fanconi-Bickel syndrome,OMIM:227810;DNA:point mutation:exon:p.R365X (human) PMID:9354798|REF_RGD_ID:1624253 11965594 SLC2A2 solute carrier family 2 member 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:11306 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic duct PMID:19252908|REF_RGD_ID:2324975 11965594 SLC2A2 solute carrier family 2 member 2 gene DOID:3892 insulinoma ISO RGD:730861 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet PMID:8421107|REF_RGD_ID:2324977 11965594 SLC2A2 solute carrier family 2 member 2 gene DOID:3892 insulinoma ISO RGD:730861 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic B cell PMID:12114701|REF_RGD_ID:2324976 11965594 SLC2A2 solute carrier family 2 member 2 gene DOID:5577 gastrinoma ISO RGD:730861 D RGD:9068941 20200609 RGD PMID:12114701|REF_RGD_ID:2324976 11965594 SLC2A2 solute carrier family 2 member 2 gene DOID:5577 gastrinoma ISO RGD:730861 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet PMID:8421107|REF_RGD_ID:2324977 11965594 SLC2A2 solute carrier family 2 member 2 gene DOID:630 genetic disease ISO RGD:730861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11965594 SLC2A2 solute carrier family 2 member 2 gene DOID:684 hepatocellular carcinoma ISO RGD:730861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8364915 11965594 SLC2A2 solute carrier family 2 member 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3705 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:9886959|REF_RGD_ID:12879480 11965594 SLC2A2 solute carrier family 2 member 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3705 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:19433262|REF_RGD_ID:2312358 11965594 SLC2A2 solute carrier family 2 member 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 11965594 SLC2A2 solute carrier family 2 member 2 gene DOID:9007821 Glucagonoma ISO RGD:730861 D RGD:9068941 20200609 RGD PMID:12114701|REF_RGD_ID:2324976 11965594 SLC2A2 solute carrier family 2 member 2 gene DOID:9007821 Glucagonoma ISO RGD:730861 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet PMID:8421107|REF_RGD_ID:2324977 11965594 SLC2A2 solute carrier family 2 member 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579870 11965594 SLC2A2 solute carrier family 2 member 2 gene DOID:9351 diabetes mellitus ISO RGD:730861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:11810292|PMID:23986439|PMID:25741868|PMID:28492532|PMID:8027028|PMID:8063045 11965594 SLC2A2 solute carrier family 2 member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730861 D RGD:7240710 20180130 OMIM 11965594 SLC2A2 solute carrier family 2 member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:11810292|PMID:13480676|PMID:15397919|PMID:16199547|PMID:17636114|PMID:22145468|PMID:24033266|PMID:24718840|PMID:25741868|PMID:26495765|PMID:27035118|PMID:27487919|PMID:28492532|PMID:34669123|PMID:35738466|PMID:8027028|PMID:8063045|PMID:9354798 11965594 SLC2A2 solute carrier family 2 member 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:730861 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:17636114|REF_RGD_ID:2312359 11965594 SLC2A2 solute carrier family 2 member 2 gene DOID:9452 fatty liver disease ISO RGD:730861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12048068 11965614 FNBP4 formin binding protein 4 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1319467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11965614 FNBP4 formin binding protein 4 gene DOID:1059 intellectual disability ISO RGD:1319467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11965614 FNBP4 formin binding protein 4 gene DOID:630 genetic disease ISO RGD:1319467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11965641 KIF7 kinesin family member 7 gene DOID:0050753 cerebellar ataxia ISO RGD:1343265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:28492532|PMID:29286531 11965641 KIF7 kinesin family member 7 gene DOID:0050777 Joubert syndrome ISO RGD:1343265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:21633164|PMID:25741868|PMID:28492532 11965641 KIF7 kinesin family member 7 gene DOID:0050779 hydrolethalus syndrome ISO RGD:1321141 D RGD:9068941 20220825 MouseDO OMIM:236680 | OMIM:614120 11965641 KIF7 kinesin family member 7 gene DOID:0050779 hydrolethalus syndrome ISO RGD:1343265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552264 11965641 KIF7 kinesin family member 7 gene DOID:0060250 idiopathic scoliosis ISO RGD:1343265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1 PMID:21552264|PMID:25741868|PMID:28492532 11965641 KIF7 kinesin family member 7 gene DOID:0060340 ciliopathy ISO RGD:1321141 D RGD:9068941 20220825 MouseDO 11965641 KIF7 kinesin family member 7 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1343265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 11965641 KIF7 kinesin family member 7 gene DOID:0111355 hydrolethalus syndrome 1 ISO RGD:1343265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11965641 KIF7 kinesin family member 7 gene DOID:0111356 hydrolethalus syndrome 2 ISO RGD:1343265 D RGD:7240710 20180130 OMIM 11965641 KIF7 kinesin family member 7 gene DOID:0111356 hydrolethalus syndrome 2 ISO RGD:1343265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrolethalus syndrome 2 PMID:16199547|PMID:19666503|PMID:21552264|PMID:21633164|PMID:25741868|PMID:26648833|PMID:28492532 11965641 KIF7 kinesin family member 7 gene DOID:1059 intellectual disability ISO RGD:1343265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21552264|PMID:21633164|PMID:25741868|PMID:26092869|PMID:28492532 11965641 KIF7 kinesin family member 7 gene DOID:12712 nephronophthisis ISO RGD:1343265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:21552264|PMID:25741868|PMID:28492532 11965641 KIF7 kinesin family member 7 gene DOID:2717 Bloom syndrome ISO RGD:1343265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11965641 KIF7 kinesin family member 7 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1310310 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:diaphragmatic mesenchyme, pulmonary mesenchyme; PMID:25921351|REF_RGD_ID:11553839 11965641 KIF7 kinesin family member 7 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1321141 D RGD:9068941 20220825 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 11965641 KIF7 kinesin family member 7 gene DOID:630 genetic disease ISO RGD:1343265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:18414213|PMID:19666503|PMID:21552264|PMID:21633164|PMID:25131622|PMID:25741868|PMID:26174511|PMID:26648833|PMID:28492532|PMID:29915382 11965641 KIF7 kinesin family member 7 gene DOID:674 cleft palate ISO RGD:1343265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552264 11965641 KIF7 kinesin family member 7 gene DOID:9000923 Joubert Syndrome 12 ISO RGD:1343265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 12 PMID:21633164|PMID:22246503 11965641 KIF7 kinesin family member 7 gene DOID:9001875 Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency ISO RGD:1343265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-limb skeletal dysplasia with severe combined immunodeficiency PMID:25741868 11965641 KIF7 kinesin family member 7 gene DOID:9003677 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies ISO RGD:1343265 D RGD:7240710 20190315 OMIM 11965641 KIF7 kinesin family member 7 gene DOID:9003677 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies ISO RGD:1343265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly with multiple epiphyseal dysplasia and distinctive facies PMID:21552264|PMID:22587682|PMID:25741868|PMID:28492532|PMID:9689990 11965641 KIF7 kinesin family member 7 gene DOID:9250 acrocallosal syndrome ISO RGD:1343265 D RGD:7240710 20180130 OMIM 11965641 KIF7 kinesin family member 7 gene DOID:9250 acrocallosal syndrome ISO RGD:1343265 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acrocallosal syndrome | ClinVar Annotator: match by term: Joubert syndrome 12/15, digenic | ClinVar Annotator: match by term: Schinzel syndrome 1 PMID:16199547|PMID:17576681|PMID:18414213|PMID:19666503|PMID:21552264|PMID:21633164|PMID:22246503|PMID:22587682|PMID:23125460|PMID:24033266|PMID:24339784|PMID:25131622|PMID:25640679|PMID:25741868|PMID:26092869|PMID:26174511|PMID:26349186|PMID:26633542|PMID:26648833|PMID:27081521|PMID:28492532|PMID:28805617|PMID:29286531|PMID:29321670|PMID:29915382|PMID:30315573|PMID:31399769|PMID:32164589|PMID:32738303|PMID:9536098 11965641 KIF7 kinesin family member 7 gene DOID:9256 colorectal cancer ISO RGD:1343265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11965641 KIF7 kinesin family member 7 gene DOID:9296 cleft lip ISO RGD:1343265 D RGD:9068941 20200609 RGD DNA:SNPs:introns:rs4932238,rs4932240(human) PMID:26602496|REF_RGD_ID:11553833 11965665 LOC100986734 olfactory receptor 5W2 gene DOID:1059 intellectual disability ISO RGD:1342811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11965665 LOC100986734 olfactory receptor 5W2 gene DOID:630 genetic disease ISO RGD:1342811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11965666 ORAI2 ORAI calcium release-activated calcium modulator 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11965666 ORAI2 ORAI calcium release-activated calcium modulator 2 gene DOID:630 genetic disease ISO RGD:1320982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:0050593 primary congenital glaucoma ISO RGD:736765 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary congenital glaucoma PMID:10227395|PMID:10655546|PMID:11184479|PMID:11403040|PMID:11980847|PMID:12036985|PMID:12525557|PMID:14507861|PMID:15037581|PMID:15255109|PMID:15342693|PMID:16384942|PMID:16735994|PMID:17224759|PMID:17363580|PMID:17563717|PMID:17591938|PMID:18227148|PMID:18414103|PMID:18537981|PMID:18622259|PMID:18852424|PMID:19195637|PMID:19204079|PMID:19234632|PMID:20151268|PMID:20664688|PMID:21081970|PMID:21168818|PMID:21306220|PMID:21600657|PMID:21850185|PMID:21854771|PMID:22942166|PMID:23218183|PMID:23218701|PMID:24033266|PMID:24227805|PMID:24940937|PMID:25109919|PMID:25261878|PMID:25741868|PMID:25978063|PMID:26550445|PMID:27243976|PMID:27272408|PMID:27508083|PMID:27820421|PMID:28492532|PMID:30662834|PMID:31024815|PMID:32830442|PMID:32832252|PMID:32860008|PMID:9463332|PMID:94927261|PMID:9497261 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:0060648 anterior segment dysgenesis ISO RGD:736765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: Ocular anterior segment dysgenesis PMID:10655546|PMID:11403040|PMID:11527932|PMID:12036985|PMID:15342693|PMID:15475877|PMID:17591938|PMID:18470941|PMID:18622259|PMID:18852424|PMID:19179758|PMID:19234632|PMID:19643970|PMID:22004014|PMID:23218701|PMID:23922489|PMID:24033266|PMID:24281366|PMID:24940937|PMID:25741868|PMID:26550445|PMID:27243976|PMID:27272408|PMID:27508083|PMID:27777502|PMID:27820421|PMID:28192799|PMID:28448622|PMID:28492532|PMID:30520782|PMID:32499604|PMID:32832252|PMID:9097971|PMID:9497261 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:0060673 Peters anomaly ISO RGD:736765 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:10655546|PMID:11403040|PMID:11527932|PMID:11558822|PMID:11774072|PMID:11854439|PMID:11980847|PMID:12036985|PMID:12525557|PMID:14507861|PMID:15037581|PMID:15255109|PMID:15342693|PMID:16688110|PMID:16735991|PMID:16735994|PMID:16862072|PMID:17363580|PMID:17563717|PMID:17591938|PMID:17718864|PMID:18470941|PMID:18537981|PMID:18622259|PMID:18852424|PMID:19204079|PMID:19234632|PMID:19236111|PMID:19536304|PMID:19597567|PMID:19643970|PMID:19744731|PMID:19793111|PMID:20151268|PMID:20198978|PMID:20664688|PMID:21081970|PMID:21168818|PMID:21572728|PMID:21815720|PMID:21850185|PMID:21854771|PMID:22004014|PMID:22128238|PMID:22942166|PMID:23028769|PMID:23218183|PMID:23218701|PMID:23922489|PMID:24033266|PMID:24123366|PMID:24227805|PMID:24281366|PMID:25091052|PMID:25333069|PMID:25527694|PMID:25580891|PMID:25646030|PMID:25741868|PMID:25950505|PMID:25978063|PMID:26550445|PMID:26997785|PMID:27060699|PMID:27243976|PMID:27270415|PMID:27272408|PMID:27408750|PMID:27508083|PMID:27535533|PMID:27777502|PMID:27820421|PMID:28384041|PMID:28448622|PMID:28492532|PMID:28620713|PMID:29142762|PMID:29556725|PMID:30108387|PMID:30484747|PMID:30520782|PMID:30653986|PMID:30788381|PMID:31024815|PMID:32476818|PMID:32499604|PMID:32510024|PMID:32830442|PMID:32832252|PMID:32883240|PMID:34956319|PMID:9097971|PMID:9497261 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:0080610 anterior segment dysgenesis 5 ISO RGD:736765 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 PMID:10655546|PMID:11403040|PMID:11527932|PMID:11558822|PMID:11774072|PMID:11854439|PMID:11980847|PMID:12036985|PMID:12525557|PMID:14507861|PMID:15037581|PMID:15255109|PMID:15342693|PMID:16688110|PMID:16735991|PMID:16735994|PMID:16862072|PMID:17363580|PMID:17563717|PMID:17591938|PMID:17718864|PMID:18470941|PMID:18537981|PMID:18622259|PMID:18852424|PMID:19204079|PMID:19234632|PMID:19236111|PMID:19536304|PMID:19597567|PMID:19643970|PMID:19744731|PMID:19793111|PMID:20151268|PMID:20198978|PMID:20664688|PMID:21081970|PMID:21168818|PMID:21572728|PMID:21815720|PMID:21850185|PMID:21854771|PMID:22004014|PMID:22128238|PMID:22942166|PMID:23028769|PMID:23218183|PMID:23218701|PMID:23922489|PMID:24033266|PMID:24123366|PMID:24227805|PMID:24281366|PMID:25091052|PMID:25333069|PMID:25527694|PMID:25580891|PMID:25646030|PMID:25741868|PMID:25950505|PMID:25978063|PMID:26550445|PMID:26997785|PMID:27060699|PMID:27243976|PMID:27270415|PMID:27272408|PMID:27408750|PMID:27508083|PMID:27535533|PMID:27777502|PMID:27820421|PMID:28384041|PMID:28448622|PMID:28492532|PMID:28620713|PMID:29142762|PMID:29556725|PMID:30108387|PMID:30484747|PMID:30520782|PMID:30653986|PMID:30788381|PMID:31024815|PMID:32476818|PMID:32499604|PMID:32510024|PMID:32830442|PMID:32832252|PMID:32883240|PMID:34956319|PMID:9097971|PMID:9497261 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:0080611 anterior segment dysgenesis 6 ISO RGD:736765 D RGD:7240710 20190315 OMIM 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:0080611 anterior segment dysgenesis 6 ISO RGD:736765 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis 6 | ClinVar Annotator: match by term: Anterior segment dysgenesis 6, multiple subtypes PMID:10227395|PMID:10426814|PMID:10655546|PMID:10739169|PMID:10910054|PMID:11403040|PMID:11527932|PMID:11774072|PMID:11980847|PMID:12036985|PMID:12372064|PMID:12525557|PMID:15037581|PMID:15342693|PMID:15621878|PMID:16384942|PMID:16735994|PMID:17164573|PMID:17563717|PMID:17591938|PMID:17893647|PMID:18055790|PMID:18227148|PMID:18414103|PMID:18470941|PMID:18537981|PMID:18622259|PMID:18852424|PMID:19204079|PMID:19234632|PMID:19247456|PMID:19536304|PMID:19597567|PMID:19643970|PMID:19744731|PMID:19793111|PMID:20151268|PMID:21081970|PMID:21168818|PMID:21572728|PMID:21600657|PMID:21850185|PMID:21854771|PMID:22004014|PMID:22878448|PMID:22942166|PMID:23218183|PMID:23218701|PMID:23922489|PMID:24033266|PMID:24281366|PMID:24940937|PMID:25091052|PMID:25109919|PMID:25527694|PMID:25646030|PMID:25741868|PMID:25950505|PMID:25978063|PMID:26550445|PMID:26550974|PMID:26997785|PMID:27060699|PMID:27243976|PMID:27272408|PMID:27508083|PMID:27777502|PMID:27820421|PMID:28448622|PMID:28492532|PMID:28644236|PMID:31024815|PMID:32224865|PMID:32476818|PMID:32499604|PMID:32832252|PMID:9097971|PMID:9463332|PMID:94927261|PMID:9497261 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:0080690 RASopathy ISO RGD:736765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:0111222 centronuclear myopathy 5 ISO RGD:736765 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 5 PMID:10655546|PMID:11774072|PMID:11980847|PMID:14507861|PMID:15037581|PMID:16688110|PMID:16735991|PMID:16735994|PMID:17563717|PMID:17591938|PMID:17718864|PMID:18622259|PMID:18852424|PMID:19204079|PMID:19236111|PMID:19536304|PMID:19597567|PMID:19643970|PMID:19744731|PMID:19793111|PMID:21081970|PMID:21168818|PMID:23028769|PMID:24033266|PMID:24123366|PMID:24281366|PMID:25091052|PMID:25333069|PMID:25580891|PMID:25741868|PMID:25978063|PMID:26997785|PMID:27243976|PMID:27408750|PMID:27508083|PMID:27535533|PMID:28384041|PMID:28492532|PMID:28620713|PMID:29142762|PMID:29556725|PMID:30108387|PMID:30653986|PMID:30788381|PMID:32510024 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:10603 glucose intolerance ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27036855 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:1068 juvenile glaucoma ISO RGD:736765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Glaucoma of childhood PMID:10227395|PMID:15342693|PMID:16735994|PMID:18227148|PMID:18414103|PMID:18537981|PMID:21081970|PMID:21600657|PMID:21854771|PMID:23218183|PMID:23218701|PMID:24033266|PMID:25109919|PMID:25741868|PMID:27243976|PMID:27272408|PMID:27820421|PMID:28492532|PMID:32832252|PMID:94927261|PMID:9497261 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:1070 primary open angle glaucoma ISO RGD:736765 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:10655546|PMID:15342693|PMID:18470941|PMID:19234632|PMID:22004014|PMID:24281366|PMID:25741868|PMID:26550445|PMID:27508083|PMID:27777502|PMID:28492532|PMID:30520782 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:1070 primary open angle glaucoma severity ISO RGD:736765 D RGD:9068941 20200609 RGD DNA:snp:cds:p.N453S (human) PMID:16319821|REF_RGD_ID:7800664 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:736765 D RGD:9068941 20200609 RGD DNA:missense mutations:exons:p.P193L, p.E229K, p.M292K (human) PMID:17563717|REF_RGD_ID:7800695 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:736765 D RGD:9068941 20200609 RGD DNA:snp, missense mutations, haplotype:promoter, cds:multiple (human) PMID:18055790|REF_RGD_ID:7800696 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:736765 D RGD:9068941 20200609 RGD DNA:snp:cds:p.L432V (human) PMID:18483560|REF_RGD_ID:7800658 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:11054 urinary bladder cancer ISO RGD:736765 D RGD:9068941 20200609 RGD PMID:21990318|REF_RGD_ID:7257730 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:11211 buphthalmos ISO RGD:736765 D RGD:7240710 20180130 OMIM 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:11211 buphthalmos ISO RGD:736765 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital glaucoma | ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A | ClinVar Annotator: match by term: Glaucoma, primary open angle, juvenile-onset PMID:10227395|PMID:10426814|PMID:10655546|PMID:10739169|PMID:10910054|PMID:11184479|PMID:11403040|PMID:11527932|PMID:11558822|PMID:11774072|PMID:11854439|PMID:11980847|PMID:12036985|PMID:12372064|PMID:12525557|PMID:14507861|PMID:14635112|PMID:15037581|PMID:15255109|PMID:15342693|PMID:15621878|PMID:16384942|PMID:16688110|PMID:16735991|PMID:16735994|PMID:16862072|PMID:17164573|PMID:17363580|PMID:17563717|PMID:17576681|PMID:17591938|PMID:17718864|PMID:17893647|PMID:18055790|PMID:18227148|PMID:18414103|PMID:18470941|PMID:18537981|PMID:18622259|PMID:18852424|PMID:19195637|PMID:19204079|PMID:19234632|PMID:19236111|PMID:19247456|PMID:19536304|PMID:19597567|PMID:19643970|PMID:19744731|PMID:19793111|PMID:19807744|PMID:20057908|PMID:20151268|PMID:20198978|PMID:20664688|PMID:21081970|PMID:21168818|PMID:21572728|PMID:21600657|PMID:21815720|PMID:21850185|PMID:21854771|PMID:22004014|PMID:22128238|PMID:22942166|PMID:23028769|PMID:23218183|PMID:23218701|PMID:23922489|PMID:24033266|PMID:24123366|PMID:24227805|PMID:24281366|PMID:24940937|PMID:25091052|PMID:25109919|PMID:25261878|PMID:25333069|PMID:25527694|PMID:25580891|PMID:25646030|PMID:25741868|PMID:25950505|PMID:25978063|PMID:26550445|PMID:26550974|PMID:26997785|PMID:27060699|PMID:27243976|PMID:27270415|PMID:27272408|PMID:27408750|PMID:27508083|PMID:27535533|PMID:27777502|PMID:2782041|PMID:27820421|PMID:28192799|PMID:28384041|PMID:28448622|PMID:28492532|PMID:28620713|PMID:28644236|PMID:29142762|PMID:29556725|PMID:30108387|PMID:30484747|PMID:30520782|PMID:30653986|PMID:30662834|PMID:30788381|PMID:31024815|PMID:31251480|PMID:32224865|PMID:32476818|PMID:32499604|PMID:32510024|PMID:32830442|PMID:32832252|PMID:32860008|PMID:32883240|PMID:34956319|PMID:9097971|PMID:9463332|PMID:94927261|PMID:9497261|PMID:9536098 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:11211 buphthalmos susceptibility ISO RGD:736765 D RGD:9068941 20200609 RGD DNA:deletion, snp:exons:g.4339delG, p.G61E (human) PMID:20664688|REF_RGD_ID:7800680 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:11211 buphthalmos susceptibility ISO RGD:736765 D RGD:9068941 20200609 RGD DNA:missense mutations:exons:p.G61E, p.R368H, p.D374N (human) PMID:19597567|REF_RGD_ID:7800689 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:11211 buphthalmos susceptibility ISO RGD:736765 D RGD:9068941 20200609 RGD DNA:polymorphisms:multiple (human) PMID:23922489|REF_RGD_ID:7800657 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:11211 buphthalmos susceptibility ISO RGD:736765 D RGD:9068941 20200609 RGD DNA:snp:cds:p.E387K (human) PMID:10227395|REF_RGD_ID:7800670 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:11212 hydrophthalmos ISO RGD:736765 D RGD:9068941 20200609 RGD DNA:insertion, deletions:exons, intron:g.1209_1214insC, g.1410_1422del, g.1389-?-1422+?del (human) PMID:9097971|REF_RGD_ID:1599716 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:12270 coloboma ISO RGD:736765 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coloboma of eye PMID:10655546|PMID:11558822|PMID:11774072|PMID:11980847|PMID:14507861|PMID:15037581|PMID:15342693|PMID:16688110|PMID:16735991|PMID:16735994|PMID:17563717|PMID:17591938|PMID:17718864|PMID:17893647|PMID:18470941|PMID:18622259|PMID:18852424|PMID:19204079|PMID:19234632|PMID:19236111|PMID:19536304|PMID:19597567|PMID:19643970|PMID:19744731|PMID:19793111|PMID:21081970|PMID:21168818|PMID:21854771|PMID:22004014|PMID:23028769|PMID:24033266|PMID:24123366|PMID:24281366|PMID:25091052|PMID:25333069|PMID:25580891|PMID:25741868|PMID:25950505|PMID:25978063|PMID:26550445|PMID:26997785|PMID:27243976|PMID:27408750|PMID:27508083|PMID:27535533|PMID:27777502|PMID:28384041|PMID:28492532|PMID:28620713|PMID:29142762|PMID:29556725|PMID:30108387|PMID:30520782|PMID:30653986|PMID:30788381|PMID:32510024|PMID:9097971|PMID:9497261 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:1612 breast cancer susceptibility ISO RGD:736765 D RGD:9068941 20200609 RGD DNA:snp:cds:p.A119S (human) PMID:10739169|REF_RGD_ID:7829734 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:1749 squamous cell carcinoma ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22114726 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:1909 melanoma ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:2773 contact dermatitis ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:3458 breast adenocarcinoma ISO RGD:2460 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary epithelium (rat) PMID:11097088|REF_RGD_ID:7829735 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:2460 D RGD:9068941 20200609 RGD protein:increased expression:esophagus (rat) PMID:18618592|REF_RGD_ID:7829715 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:3883 Lynch syndrome ISO RGD:736765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:736765 D RGD:9068941 20200609 RGD Carcinoma, Squamous Cell;DNA:snp:cds:p.A119S (human) PMID:10739169|REF_RGD_ID:7829734 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:3910 lung adenocarcinoma ISO RGD:736765 D RGD:9068941 20220519 RGD protein:increased expression:lung (human) PMID:19358281|REF_RGD_ID:152177688 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:5844 myocardial infarction ameliorates ISO RGD:2460 D RGD:9068941 20230330 RGD PMID:33389498|REF_RGD_ID:242905187 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:630 genetic disease ISO RGD:736765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:657 adenoma ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11376689 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17704407 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17372243 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:9003936 Cardiomegaly ISO RGD:10439 D RGD:9068941 20200609 RGD associated with Hypertension PMID:20805442|REF_RGD_ID:7829714 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:9003936 Cardiomegaly ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18725507 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:2460 D RGD:9068941 20200609 RGD associated with Hypertension PMID:20805442|REF_RGD_ID:7829714 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:9005172 Lung Neoplasms ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11376689 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:9005369 Hepatomegaly ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27036855 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:9007147 Glaucoma 3, Primary Infantile, B ISO RGD:736765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary congenital glaucoma type 3B PMID:10227395|PMID:10426814|PMID:10739169|PMID:11403040|PMID:11527932|PMID:11774072|PMID:11980847|PMID:12036985|PMID:12372064|PMID:12525557|PMID:15037581|PMID:15342693|PMID:15621878|PMID:16384942|PMID:16735994|PMID:17164573|PMID:17563717|PMID:17591938|PMID:17893647|PMID:18055790|PMID:18227148|PMID:18414103|PMID:18470941|PMID:18537981|PMID:18622259|PMID:18852424|PMID:19234632|PMID:19247456|PMID:19597567|PMID:19643970|PMID:19744731|PMID:19793111|PMID:20151268|PMID:21081970|PMID:21572728|PMID:21600657|PMID:21850185|PMID:21854771|PMID:22004014|PMID:22942166|PMID:23218183|PMID:23218701|PMID:23922489|PMID:24033266|PMID:24281366|PMID:25091052|PMID:25109919|PMID:25527694|PMID:25646030|PMID:25741868|PMID:25950505|PMID:25978063|PMID:26550445|PMID:26550974|PMID:26997785|PMID:27060699|PMID:27243976|PMID:27272408|PMID:27777502|PMID:27820421|PMID:28448622|PMID:28492532|PMID:28644236|PMID:31024815|PMID:32224865|PMID:32476818|PMID:32499604|PMID:32832252|PMID:9097971|PMID:9463332|PMID:94927261|PMID:9497261 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22114726 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736765 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:33814510 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20878130 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037|PMID:17297925 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:9452 fatty liver disease ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27036855 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22674224 11965673 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:9970 obesity ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27036855 11965680 ALOX15 arachidonate 15-lipoxygenase gene DOID:0060041 autism spectrum disorder ISO RGD:1352372 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11965680 ALOX15 arachidonate 15-lipoxygenase gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:20967760|REF_RGD_ID:5509622 11965680 ALOX15 arachidonate 15-lipoxygenase gene DOID:0111579 asthma, nasal polyps, and aspirin intolerance ISO RGD:1352372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance PMID:17959182|PMID:21558275|PMID:30643255 11965680 ALOX15 arachidonate 15-lipoxygenase gene DOID:10652 Alzheimer's disease ISO RGD:1352372 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:15111312|REF_RGD_ID:5509620 11965680 ALOX15 arachidonate 15-lipoxygenase gene DOID:10652 Alzheimer's disease ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:20570249|REF_RGD_ID:5509595 11965680 ALOX15 arachidonate 15-lipoxygenase gene DOID:10763 hypertension ISO RGD:1352372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22467300 11965680 ALOX15 arachidonate 15-lipoxygenase gene DOID:1936 atherosclerosis ISO RGD:1352372 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16303615 11965680 ALOX15 arachidonate 15-lipoxygenase gene DOID:1936 atherosclerosis ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:18206890|REF_RGD_ID:5509610 11965680 ALOX15 arachidonate 15-lipoxygenase gene DOID:2316 brain ischemia ISO RGD:70493 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:20167207|REF_RGD_ID:5509598 11965680 ALOX15 arachidonate 15-lipoxygenase gene DOID:2841 asthma ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:18692885|REF_RGD_ID:5509784 11965680 ALOX15 arachidonate 15-lipoxygenase gene DOID:2841 asthma ISO RGD:733626 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19628725|REF_RGD_ID:5509605 11965680 ALOX15 arachidonate 15-lipoxygenase gene DOID:2921 glomerulonephritis ISO RGD:70493 D RGD:9068941 20200609 RGD PMID:7967345|REF_RGD_ID:5128564 11965680 ALOX15 arachidonate 15-lipoxygenase gene DOID:6000 congestive heart failure ISO RGD:70493 D RGD:9068941 20200609 RGD associated with Myocardial Infarction; mRNA:increased expression:heart left ventricle, septum PMID:16497176|REF_RGD_ID:1642301 11965680 ALOX15 arachidonate 15-lipoxygenase gene DOID:6000 congestive heart failure ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:19546247|REF_RGD_ID:5509627 11965680 ALOX15 arachidonate 15-lipoxygenase gene DOID:630 genetic disease ISO RGD:1352372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11965680 ALOX15 arachidonate 15-lipoxygenase gene DOID:8283 peritonitis ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:18941242|REF_RGD_ID:5509607 11965680 ALOX15 arachidonate 15-lipoxygenase gene DOID:9000117 Esophageal Neoplasms ISO RGD:1352372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11406566 11965680 ALOX15 arachidonate 15-lipoxygenase gene DOID:9001472 Nasal Polyps ISO RGD:1352372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30643255 11965680 ALOX15 arachidonate 15-lipoxygenase gene DOID:9001472 Nasal Polyps ISO RGD:1352372 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium PMID:20554417|REF_RGD_ID:5509597 11965680 ALOX15 arachidonate 15-lipoxygenase gene DOID:9001600 Wounds and Injuries ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:15708862|REF_RGD_ID:5509615 11965680 ALOX15 arachidonate 15-lipoxygenase gene DOID:9002457 Experimental Arthritis ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:19675173|REF_RGD_ID:5509599 11965680 ALOX15 arachidonate 15-lipoxygenase gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:15328042|REF_RGD_ID:5509618 11965680 ALOX15 arachidonate 15-lipoxygenase gene DOID:9004009 Reperfusion Injury ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:18635843|REF_RGD_ID:5509608 11965680 ALOX15 arachidonate 15-lipoxygenase gene DOID:9004610 Acute Lung Injury ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:19752233|REF_RGD_ID:5509626 11965680 ALOX15 arachidonate 15-lipoxygenase gene DOID:9005372 Inflammation ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:19787041|REF_RGD_ID:5509625 11965680 ALOX15 arachidonate 15-lipoxygenase gene DOID:9005372 Inflammation ISO RGD:733626 D RGD:9068941 20200609 RGD associated with Wounds and Injuries PMID:17384141|REF_RGD_ID:5509613 11965680 ALOX15 arachidonate 15-lipoxygenase gene DOID:9007692 Insulin Resistance ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:19787041|REF_RGD_ID:5509625 11965680 ALOX15 arachidonate 15-lipoxygenase gene DOID:9743 diabetic neuropathy ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:20724598|REF_RGD_ID:5509623 11965680 ALOX15 arachidonate 15-lipoxygenase gene DOID:9744 type 1 diabetes mellitus ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:17940120|REF_RGD_ID:5509611 11965680 ALOX15 arachidonate 15-lipoxygenase gene DOID:9775 diastolic heart failure ISO RGD:1352372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 11965698 STPG3 sperm-tail PG-rich repeat containing 3 gene DOID:0050777 Joubert syndrome ISO RGD:1604889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11965698 STPG3 sperm-tail PG-rich repeat containing 3 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1604889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 11965698 STPG3 sperm-tail PG-rich repeat containing 3 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1604889 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 11965698 STPG3 sperm-tail PG-rich repeat containing 3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1604889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11965698 STPG3 sperm-tail PG-rich repeat containing 3 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1604889 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11965698 STPG3 sperm-tail PG-rich repeat containing 3 gene DOID:0081097 Rafiq syndrome ISO RGD:1604889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11965698 STPG3 sperm-tail PG-rich repeat containing 3 gene DOID:1826 epilepsy ISO RGD:1604889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11965698 STPG3 sperm-tail PG-rich repeat containing 3 gene DOID:630 genetic disease ISO RGD:1604889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11965698 STPG3 sperm-tail PG-rich repeat containing 3 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1604889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11965715 LOC100992664 olfactory receptor 8A1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1349349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11965715 LOC100992664 olfactory receptor 8A1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1349349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11965715 LOC100992664 olfactory receptor 8A1 gene DOID:5419 schizophrenia ISO RGD:1349349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11965715 LOC100992664 olfactory receptor 8A1 gene DOID:630 genetic disease ISO RGD:1349349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11965715 LOC100992664 olfactory receptor 8A1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1349349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11965715 LOC100992664 olfactory receptor 8A1 gene DOID:9007661 Dwarfism ISO RGD:1349349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11965721 GRB2 growth factor receptor bound protein 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:732473 D RGD:9068941 20200609 RGD DNA:amplification, mutation PMID:28930697|REF_RGD_ID:13504750 11965721 GRB2 growth factor receptor bound protein 2 gene DOID:10283 prostate cancer treatment ISO RGD:732473 D RGD:9068941 20200609 RGD PMID:17372910|REF_RGD_ID:13504751 11965721 GRB2 growth factor receptor bound protein 2 gene DOID:1612 breast cancer treatment ISO RGD:732473 D RGD:9068941 20200609 RGD PMID:17372910|REF_RGD_ID:13504751 11965721 GRB2 growth factor receptor bound protein 2 gene DOID:2526 prostate adenocarcinoma ISO RGD:732473 D RGD:9068941 20200609 RGD PMID:26103942|REF_RGD_ID:11056009 11965721 GRB2 growth factor receptor bound protein 2 gene DOID:2871 endometrial carcinoma severity ISO RGD:732473 D RGD:9068941 20200609 RGD Shc-Grb2 complex;protein:increased expression:serum (human) PMID:22459351|REF_RGD_ID:13441552 11965721 GRB2 growth factor receptor bound protein 2 gene DOID:630 genetic disease ISO RGD:732473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11965744 MISP mitotic spindle positioning gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1317766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 11965744 MISP mitotic spindle positioning gene DOID:5339 cyclic hematopoiesis ISO RGD:1317766 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11965744 MISP mitotic spindle positioning gene DOID:630 genetic disease ISO RGD:1317766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11965771 PDE12 phosphodiesterase 12 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1606683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26055709 11965771 PDE12 phosphodiesterase 12 gene DOID:630 genetic disease ISO RGD:1606683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11965771 PDE12 phosphodiesterase 12 gene DOID:9004531 Cardiovirus Infections ISO RGD:1606683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26055709 11965771 PDE12 phosphodiesterase 12 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1606683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 11965783 CD81 CD81 molecule gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11965783 CD81 CD81 molecule gene DOID:0080773 delta beta-thalassemia ISO RGD:731700 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11965783 CD81 CD81 molecule gene DOID:0081149 common variable immunodeficiency 6 ISO RGD:731700 D RGD:7240710 20190327 OMIM 11965783 CD81 CD81 molecule gene DOID:0081149 common variable immunodeficiency 6 ISO RGD:731700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 6 PMID:20237408|PMID:25741868|PMID:28492532 11965783 CD81 CD81 molecule gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11965783 CD81 CD81 molecule gene DOID:12177 common variable immunodeficiency ISO RGD:731700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11965783 CD81 CD81 molecule gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:731700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11965783 CD81 CD81 molecule gene DOID:1883 hepatitis C ISO RGD:731700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17517063 11965783 CD81 CD81 molecule gene DOID:630 genetic disease ISO RGD:731700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11965783 CD81 CD81 molecule gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:731700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11965794 AKAP9 A-kinase anchoring protein 9 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:23861362|PMID:25741868|PMID:28492532 11965794 AKAP9 A-kinase anchoring protein 9 gene DOID:0050700 cardiomyopathy ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25016126|PMID:25741868|PMID:28492532 11965794 AKAP9 A-kinase anchoring protein 9 gene DOID:0060224 atrial fibrillation ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:23861362|PMID:25741868|PMID:28492532 11965794 AKAP9 A-kinase anchoring protein 9 gene DOID:0060319 cardiac arrest ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:23861362|PMID:25741868|PMID:28492532 11965794 AKAP9 A-kinase anchoring protein 9 gene DOID:0060669 cerebral cavernous malformation ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 11965794 AKAP9 A-kinase anchoring protein 9 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:23861362|PMID:25741868|PMID:28492532 11965794 AKAP9 A-kinase anchoring protein 9 gene DOID:0110218 Brugada syndrome 1 ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:23861362|PMID:25741868|PMID:28492532 11965794 AKAP9 A-kinase anchoring protein 9 gene DOID:0110644 long QT syndrome 1 ISO RGD:1349720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:24033266|PMID:24123366|PMID:25467552|PMID:25649125|PMID:25741868|PMID:26159999|PMID:26220970|PMID:26743238|PMID:28074886|PMID:28492532|PMID:28750076|PMID:29574703|PMID:30276209|PMID:30471092|PMID:30847666|PMID:34088380 11965794 AKAP9 A-kinase anchoring protein 9 gene DOID:0110645 long QT syndrome 2 ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:23861362|PMID:28492532 11965794 AKAP9 A-kinase anchoring protein 9 gene DOID:0110652 long QT syndrome 11 ISO RGD:1349720 D RGD:7240710 20180130 OMIM 11965794 AKAP9 A-kinase anchoring protein 9 gene DOID:0110652 long QT syndrome 11 ISO RGD:1349720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:17576681|PMID:18093912|PMID:22378279|PMID:23174487|PMID:23861362|PMID:24033266|PMID:24467814|PMID:25172201|PMID:25363768|PMID:25467552|PMID:25649125|PMID:25741868|PMID:26159999|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26350513|PMID:26704558|PMID:27707468|PMID:28074886|PMID:28341588|PMID:28492532|PMID:28666525|PMID:28714951|PMID:28750076|PMID:28986455|PMID:29247119|PMID:29350269|PMID:29574703|PMID:29641532|PMID:30276209|PMID:30471092|PMID:30615648|PMID:30847666|PMID:31418098|PMID:31534214|PMID:31785789|PMID:31847883|PMID:33084842|PMID:33789662|PMID:34011629|PMID:9536098 11965794 AKAP9 A-kinase anchoring protein 9 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 11965794 AKAP9 A-kinase anchoring protein 9 gene DOID:12930 dilated cardiomyopathy ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 11965794 AKAP9 A-kinase anchoring protein 9 gene DOID:2843 long QT syndrome ISO RGD:1349720 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:16199547|PMID:17576681|PMID:18093912|PMID:23861362|PMID:24033266|PMID:24123366|PMID:25172201|PMID:25363768|PMID:25467552|PMID:25649125|PMID:25661095|PMID:25741868|PMID:26132555|PMID:26159999|PMID:26230511|PMID:26580448|PMID:26671970|PMID:26704558|PMID:26743238|PMID:27707468|PMID:28074886|PMID:28166811|PMID:28341588|PMID:28492532|PMID:28666525|PMID:28714951|PMID:28750076|PMID:29247119|PMID:29574703|PMID:30276209|PMID:30821013|PMID:30847666|PMID:31534214|PMID:32233023|PMID:33084842|PMID:9536098 11965794 AKAP9 A-kinase anchoring protein 9 gene DOID:2843 long QT syndrome ISO RGD:1349720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:16199547|PMID:17576681|PMID:18093912|PMID:22378279|PMID:22584458|PMID:23174487|PMID:23861362|PMID:24033266|PMID:24123366|PMID:24467814|PMID:24981977|PMID:25016126|PMID:25172201|PMID:25363768|PMID:25467552|PMID:25649125|PMID:25661095|PMID:25741868|PMID:26132555|PMID:26159999|PMID:26189708|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26350513|PMID:26580448|PMID:26671970|PMID:26704558|PMID:26743238|PMID:27332903|PMID:27707468|PMID:28003625|PMID:28074886|PMID:28341588|PMID:28492532|PMID:28666525|PMID:28714951|PMID:28750076|PMID:28986455|PMID:29181379|PMID:29247119|PMID:29350269|PMID:29511324|PMID:29574703|PMID:29641532|PMID:29688227|PMID:30276209|PMID:30471092|PMID:30615648|PMID:30821013|PMID:30847666|PMID:30975432|PMID:31418098|PMID:31534214|PMID:31654968|PMID:31847883|PMID:32233023|PMID:33084842|PMID:33232181|PMID:33789662|PMID:34011629|PMID:34088380|PMID:9536098 11965794 AKAP9 A-kinase anchoring protein 9 gene DOID:2843 long QT syndrome ISO RGD:1349720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:16199547|PMID:17576681|PMID:18093912|PMID:22378279|PMID:22584458|PMID:23174487|PMID:23861362|PMID:24033266|PMID:24123366|PMID:24467814|PMID:24981977|PMID:25016126|PMID:25172201|PMID:25363768|PMID:25467552|PMID:25649125|PMID:25661095|PMID:25741868|PMID:26132555|PMID:26159999|PMID:26189708|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26350513|PMID:26580448|PMID:26671970|PMID:26704558|PMID:26743238|PMID:27332903|PMID:27707468|PMID:28003625|PMID:28074886|PMID:28341588|PMID:28492532|PMID:28666525|PMID:28714951|PMID:28750076|PMID:28986455|PMID:29181379|PMID:29247119|PMID:29350269|PMID:29511324|PMID:29574703|PMID:29641532|PMID:29688227|PMID:30276209|PMID:30471092|PMID:30615648|PMID:30821013|PMID:30847666|PMID:30975432|PMID:31418098|PMID:31534214|PMID:31654968|PMID:31785789|PMID:31847883|PMID:32233023|PMID:33084842|PMID:33232181|PMID:33789662|PMID:34011629|PMID:34088380|PMID:9536098 11965794 AKAP9 A-kinase anchoring protein 9 gene DOID:37 skin disease ISO RGD:1349720 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11965794 AKAP9 A-kinase anchoring protein 9 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1349720 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:22584458|PMID:28492532|PMID:32233023 11965794 AKAP9 A-kinase anchoring protein 9 gene DOID:397 restrictive cardiomyopathy ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:25741868|PMID:28492532 11965794 AKAP9 A-kinase anchoring protein 9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11965794 AKAP9 A-kinase anchoring protein 9 gene DOID:6000 congestive heart failure ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart failure PMID:23861362|PMID:25741868|PMID:28492532 11965794 AKAP9 A-kinase anchoring protein 9 gene DOID:630 genetic disease ISO RGD:1349720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11965794 AKAP9 A-kinase anchoring protein 9 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:28492532 11965794 AKAP9 A-kinase anchoring protein 9 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:23861362|PMID:25741868|PMID:28074886|PMID:28492532|PMID:28750076|PMID:29574703 11965794 AKAP9 A-kinase anchoring protein 9 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:24033266|PMID:24123366|PMID:25467552|PMID:25649125|PMID:25741868|PMID:26743238|PMID:28074886|PMID:28492532|PMID:28750076|PMID:29574703|PMID:30276209 11965794 AKAP9 A-kinase anchoring protein 9 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1349720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:24033266|PMID:24123366|PMID:25467552|PMID:25649125|PMID:25741868|PMID:26159999|PMID:26743238|PMID:28074886|PMID:28492532|PMID:28750076|PMID:29574703|PMID:30276209|PMID:30471092|PMID:30847666|PMID:34088380 11965794 AKAP9 A-kinase anchoring protein 9 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28492532 11965794 AKAP9 A-kinase anchoring protein 9 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia PMID:23861362|PMID:25741868|PMID:28492532 11965794 AKAP9 A-kinase anchoring protein 9 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:23861362|PMID:25741868|PMID:28492532 11965794 AKAP9 A-kinase anchoring protein 9 gene DOID:9007964 Arsenic Poisoning ISO RGD:1349720 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11965794 AKAP9 A-kinase anchoring protein 9 gene DOID:9120 amyloidosis ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidosis PMID:23861362|PMID:25741868|PMID:28492532 11965794 AKAP9 A-kinase anchoring protein 9 gene DOID:9256 colorectal cancer ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 11965847 LAMB4 laminin subunit beta 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1342609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11965847 LAMB4 laminin subunit beta 4 gene DOID:630 genetic disease ISO RGD:1342609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11965883 P3H1 prolyl 3-hydroxylase 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1602868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11965883 P3H1 prolyl 3-hydroxylase 1 gene DOID:0110336 osteogenesis imperfecta type 8 ISO RGD:1602868 D RGD:7240710 20180130 OMIM 11965883 P3H1 prolyl 3-hydroxylase 1 gene DOID:0110336 osteogenesis imperfecta type 8 ISO RGD:1602868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 8 PMID:16199547|PMID:17277775|PMID:17576681|PMID:18566967|PMID:19088120|PMID:21667357|PMID:22281939|PMID:22615817|PMID:23613367|PMID:24498616|PMID:25741868|PMID:26634552|PMID:27509835|PMID:27545679|PMID:27864101|PMID:28492532|PMID:29150909|PMID:29499418|PMID:29620724|PMID:32123938|PMID:32770541|PMID:3545499|PMID:9536098 11965883 P3H1 prolyl 3-hydroxylase 1 gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:1602868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type III PMID:22615817|PMID:25741868|PMID:27864101|PMID:28492532|PMID:32770541 11965883 P3H1 prolyl 3-hydroxylase 1 gene DOID:12347 osteogenesis imperfecta ISO RGD:1602868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:17277775|PMID:17576681|PMID:18566967|PMID:19088120|PMID:22281939|PMID:24498616|PMID:25741868|PMID:26634552|PMID:28492532|PMID:31319225|PMID:9536098 11965883 P3H1 prolyl 3-hydroxylase 1 gene DOID:12347 osteogenesis imperfecta ISO RGD:1602868 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:16199547|PMID:17277775|PMID:17576681|PMID:18566967|PMID:19088120|PMID:22281939|PMID:24498616|PMID:25741868|PMID:26634552|PMID:27509835|PMID:28492532|PMID:29150909|PMID:31319225|PMID:9536098 11965883 P3H1 prolyl 3-hydroxylase 1 gene DOID:630 genetic disease ISO RGD:1602868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11965944 TTLL12 tubulin tyrosine ligase like 12 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1604381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11965944 TTLL12 tubulin tyrosine ligase like 12 gene DOID:1059 intellectual disability ISO RGD:1604381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11965944 TTLL12 tubulin tyrosine ligase like 12 gene DOID:630 genetic disease ISO RGD:1604381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11965944 TTLL12 tubulin tyrosine ligase like 12 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1604381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:735912 D RGD:9068941 20220121 RGD mRNA:increased expression:lung (human) PMID:30119248|REF_RGD_ID:151347411 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:0050156 idiopathic pulmonary fibrosis treatment ISO RGD:2252 D RGD:9068941 20220121 RGD PMID:30119248|REF_RGD_ID:151347411 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:0050553 JMP syndrome ISO RGD:735912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:735912 D RGD:9068941 20220128 RGD mRNA, protein:increased expression:mouth (human) PMID:31253192|REF_RGD_ID:151347620 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:10271 D RGD:9068941 20220121 RGD PMID:28863860|REF_RGD_ID:150519888 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:11372 megacolon ISO RGD:735912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:12351 alcoholic hepatitis disease_progression ISO RGD:10271 D RGD:9068941 20220204 RGD mRNA:increased expression:liver (mouse) PMID:33173221|REF_RGD_ID:151347691 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:12351 alcoholic hepatitis severity ISO RGD:735912 D RGD:9068941 20220204 RGD mRNA:increased expression:liver (human) PMID:33173221|REF_RGD_ID:151347691 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:14018 alcoholic liver cirrhosis severity ISO RGD:735912 D RGD:9068941 20220204 RGD mRNA:increased expression:liver (human) PMID:33173221|REF_RGD_ID:151347691 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:1612 breast cancer ISO RGD:735912 D RGD:9068941 20220128 RGD mRNA, protein:increased expression:breast cancer tissue (human) PMID:31578591|REF_RGD_ID:151347435 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:1793 pancreatic cancer treatment ISO RGD:10271 D RGD:9068941 20220121 RGD PMID:31310125|REF_RGD_ID:151347425 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:2394 ovarian cancer severity ISO RGD:735912 D RGD:9068941 20220128 RGD mRNA:increased expression:ovary (human) PMID:28743276|REF_RGD_ID:151347541 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:299 adenocarcinoma ISO RGD:735912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:3070 high grade glioma severity ISO RGD:735912 D RGD:9068941 20220128 RGD mRNA, protein:increased expression:brain (human) PMID:16652150|REF_RGD_ID:151347531 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:3347 osteosarcoma ISO RGD:735912 D RGD:9068941 20220128 RGD human cells in mouse model PMID:29039472|REF_RGD_ID:151347601 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:3347 osteosarcoma severity ISO RGD:735912 D RGD:9068941 20220128 RGD protein:increased expression:bone (human) PMID:29039472|REF_RGD_ID:151347601 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:3459 breast carcinoma ISO RGD:10271 D RGD:9068941 20220128 RGD PMID:29483153|REF_RGD_ID:151347599 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:3459 breast carcinoma ISO RGD:3796 D RGD:9068941 20220128 RGD DDR1 acts with Syk PMID:21499918|REF_RGD_ID:151347448 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735912 D RGD:9068941 20210924 RGD PMID:17299390|REF_RGD_ID:150429714 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:735912 D RGD:9068941 20220128 RGD mRNA, protein:decreased expression:kidney (human) PMID:31018949|REF_RGD_ID:151347528 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:4467 clear cell renal cell carcinoma severity ISO RGD:735912 D RGD:9068941 20220204 RGD mRNA:increased expression:kidney, lymph nodes (human) PMID:27020590|REF_RGD_ID:151347863 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:6000 congestive heart failure ISO RGD:2252 D RGD:9068941 20200609 RGD associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum PMID:16497176|REF_RGD_ID:1642301 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:630 genetic disease ISO RGD:735912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:10271 D RGD:9068941 20220204 RGD PMID:33173221|REF_RGD_ID:151347691 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:735912 D RGD:9068941 20220204 RGD mRNA:increased expression:liver (human) PMID:33173221|REF_RGD_ID:151347691 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:8923 skin melanoma severity ISO RGD:735912 D RGD:9068941 20220204 RGD protein:increased expression:skin lesion (human) PMID:31271515|REF_RGD_ID:151347864 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:8923 skin melanoma treatment ISO RGD:735912 D RGD:9068941 20220204 RGD human cells in mouse model; DDR1-IN-1 PMID:31271515|REF_RGD_ID:151347864 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:735912 D RGD:9068941 20220128 RGD mRNA, protein:increased expression:mouth (human) PMID:31253192|REF_RGD_ID:151347620 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9000081 Lymphatic Metastasis severity ISO RGD:735912 D RGD:9068941 20220204 RGD mRNA:increased expression:kidney, lymph nodes (human) PMID:27020590|REF_RGD_ID:151347863 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9000965 Neoplasm Metastasis severity ISO RGD:735912 D RGD:9068941 20220128 RGD mRNA:increased expression:ovary (human) PMID:28743276|REF_RGD_ID:151347541 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9000965 Neoplasm Metastasis severity ISO RGD:735912 D RGD:9068941 20220128 RGD protein:increased expression:bone (human) PMID:29039472|REF_RGD_ID:151347601 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9002170 Experimental Neoplasms treatment ISO RGD:735912 D RGD:9068941 20220128 RGD human cancer cells in mouse model PMID:26719540|REF_RGD_ID:11520844 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:735912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:10271 D RGD:9068941 20220128 RGD PMID:29298894|REF_RGD_ID:151347446 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21283680 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10271 D RGD:9068941 20220128 RGD protein:increased expression:kidney (mouse) PMID:31383731|REF_RGD_ID:151347540 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9006618 Liver Metastasis ISO RGD:10271 D RGD:9068941 20220128 RGD PMID:33110221|REF_RGD_ID:151347537 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9006618 Liver Metastasis ISO RGD:10271 D RGD:9068941 20220204 RGD mRNA:increased expression:liver (mouse) PMID:30666650|REF_RGD_ID:151347840 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9006618 Liver Metastasis treatment ISO RGD:735912 D RGD:9068941 20220204 RGD human cells in mouse model; nilotinib PMID:29438985|REF_RGD_ID:151347685 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:10271 D RGD:9068941 20220210 RGD PMID:32360427|REF_RGD_ID:151347874 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9009121 lung metastasis ISO RGD:10271 D RGD:9068941 20220128 RGD PMID:29483153|REF_RGD_ID:151347599 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9256 colorectal cancer ISO RGD:10271 D RGD:9068941 20220204 RGD mRNA:increased expression:colon (mouse) PMID:30666650|REF_RGD_ID:151347840 11965965 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9256 colorectal cancer severity ISO RGD:735912 D RGD:9068941 20220204 RGD protein:increased expression, increased phosphorylation:tumor cells (human) PMID:29438985|REF_RGD_ID:151347685 11966022 TSC2 TSC complex subunit 2 gene DOID:0050562 West syndrome ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18345974 11966022 TSC2 TSC complex subunit 2 gene DOID:0050902 medulloblastoma ISO RGD:736193 D RGD:9068941 20200609 RGD DNA:polymorphism:intron PMID:11603814|REF_RGD_ID:11072879 11966022 TSC2 TSC complex subunit 2 gene DOID:0060041 autism spectrum disorder ISO RGD:736193 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:15024740|PMID:17304050|PMID:21572417|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22867869|PMID:23514105|PMID:24033266|PMID:24728327|PMID:25231023|PMID:25401301|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29655203|PMID:30763456|PMID:31623367 11966022 TSC2 TSC complex subunit 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 11966022 TSC2 TSC complex subunit 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:736193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:25741868|PMID:28215400|PMID:28492532 11966022 TSC2 TSC complex subunit 2 gene DOID:0080322 polycystic kidney disease ISO RGD:736193 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease, adult type PMID:17304050|PMID:22703879|PMID:22903760|PMID:24728327|PMID:25741868|PMID:28492532 11966022 TSC2 TSC complex subunit 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:736193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:10205261|PMID:17304050|PMID:21520333|PMID:25741868|PMID:27859028|PMID:28492532 11966022 TSC2 TSC complex subunit 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736193 D RGD:7240710 20180130 OMIM 11966022 TSC2 TSC complex subunit 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736193 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10069705|PMID:10090883|PMID:10205261|PMID:10206124|PMID:10215407|PMID:10227394|PMID:10330349|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10577937|PMID:10607950|PMID:10633137|PMID:10732801|PMID:10735580|PMID:10823953|PMID:10905251|PMID:10942116|PMID:11068191|PMID:11112665|PMID:1112665|PMID:11129334|PMID:11208653|PMID:11281455|PMID:11290735|PMID:11403047|PMID:11437991|PMID:11520734|PMID:11521203|PMID:11603814|PMID:11741832|PMID:11741833|PMID:11810271|PMID:11829138|PMID:12015165|PMID:12062115|PMID:12086608|PMID:12111193|PMID:12136241|PMID:12235314|PMID:12511557|PMID:12752578|PMID:12869586|PMID:12906785|PMID:12913212|PMID:14508401|PMID:14641237|PMID:14718525|PMID:14756965|PMID:14993219|PMID:15024740|PMID:15072102|PMID:15121792|PMID:15121797|PMID:15141215|PMID:1520333|PMID:15340059|PMID:15483652|PMID:15595939|PMID:15712319|PMID:15798777|PMID:15851026|PMID:15874888|PMID:15963462|PMID:16032769|PMID:16042315|PMID:16114042|PMID:16129702|PMID:16199547|PMID:16237225|PMID:16417848|PMID:16464865|PMID:16554133|PMID:16822245|PMID:16835931|PMID:16877242|PMID:16981987|PMID:17005952|PMID:17034546|PMID:17120248|PMID:17287951|PMID:17304050|PMID:17536269|PMID:17576681|PMID:17671177|PMID:18032745|PMID:18230340|PMID:18302728|PMID:18308511|PMID:18411301|PMID:18414213|PMID:18466115|PMID:18550814|PMID:18695678|PMID:1870099|PMID:18722871|PMID:18772611|PMID:18792920|PMID:18830229|PMID:18854862|PMID:19166931|PMID:19254590|PMID:19258292|PMID:19259131|PMID:19369101|PMID:19419980|PMID:19747374|PMID:19823873|PMID:20108343|PMID:20165957|PMID:2039137|PMID:20399389|PMID:20498439|PMID:20633017|PMID:21252315|PMID:21309039|PMID:21332470|PMID:21407201|PMID:21407264|PMID:21418539|PMID:21510812|PMID:21520333|PMID:21567926|PMID:21572417|PMID:21624971|PMID:21811971|PMID:21846442|PMID:21910228|PMID:22055460|PMID:22161988|PMID:22169896|PMID:22343534|PMID:22490766|PMID:22495309|PMID:22552000|PMID:22558107|PMID:22703879|PMID:22707510|PMID:22748302|PMID:22791573|PMID:22805177|PMID:22867869|PMID:22903760|PMID:22974335|PMID:22995991|PMID:23006675|PMID:23217510|PMID:23254740|PMID:23389244|PMID:23504366|PMID:23514105|PMID:23955302|PMID:24033266|PMID:24053982|PMID:24055113|PMID:24075384|PMID:24271014|PMID:24412076|PMID:24668795|PMID:24728327|PMID:24737435|PMID:24770934|PMID:24789117|PMID:25039834|PMID:25058500|PMID:25088526|PMID:25180276|PMID:25203624|PMID:25231023|PMID:25281918|PMID:25338684|PMID:25363768|PMID:25401301|PMID:25432535|PMID:25498131|PMID:25525159|PMID:25593300|PMID:25599672|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25782670|PMID:25862857|PMID:25892863|PMID:25900779|PMID:25911330|PMID:25927202|PMID:26155992|PMID:26332594|PMID:26467025|PMID:26489027|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26633542|PMID:26637798|PMID:26703369|PMID:26822237|PMID:26994145|PMID:27060308|PMID:27078846|PMID:27153395|PMID:27174333|PMID:27176796|PMID:27185581|PMID:27194594|PMID:27406250|PMID:27493206|PMID:27494029|PMID:27600092|PMID:27621404|PMID:27757534|PMID:27824329|PMID:27854218|PMID:27859028|PMID:27884173|PMID:27930734|PMID:28065512|PMID:28074849|PMID:28087349|PMID:28127866|PMID:28149746|PMID:28178598|PMID:28191889|PMID:28202063|PMID:28211972|PMID:28215400|PMID:28250423|PMID:28302202|PMID:28397210|PMID:28407358|PMID:28409891|PMID:28492532|PMID:28505269|PMID:28600779|PMID:28623545|PMID:28643795|PMID:28659645|PMID:28687356|PMID:28771801|PMID:28786016|PMID:28873162|PMID:28968464|PMID:2903760|PMID:29101226|PMID:29167182|PMID:29196670|PMID:29271092|PMID:29286531|PMID:29308833|PMID:29344138|PMID:29432982|PMID:29476190|PMID:29500070|PMID:29641532|PMID:29642139|PMID:29655203|PMID:29684080|PMID:29740858|PMID:29778030|PMID:29801666|PMID:29868112|PMID:29892012|PMID:29925043|PMID:29926239|PMID:29930392|PMID:29932062|PMID:29933521|PMID:3|PMID:30024541|PMID:30036593|PMID:30086788|PMID:30093976|PMID:30185235|PMID:30255984|PMID:30260069|PMID:30311386|PMID:30336374|PMID:30548481|PMID:30712878|PMID:30763456|PMID:30911571|PMID:30986793|PMID:31005478|PMID:31018109|PMID:31140686 11966022 TSC2 TSC complex subunit 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736193 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:31370276|PMID:31444548|PMID:31525612|PMID:31586081|PMID:31591157|PMID:31623367|PMID:31650098|PMID:31655562|PMID:31780880|PMID:31799751|PMID:31832524|PMID:31855466|PMID:31856217|PMID:31875159|PMID:31927531|PMID:31981491|PMID:32193183|PMID:32211034|PMID:32313033|PMID:32340510|PMID:32382396|PMID:32410215|PMID:32461669|PMID:32502382|PMID:32555378|PMID:32581362|PMID:32647919|PMID:32830346|PMID:32849516|PMID:32860008|PMID:32917028|PMID:32917966|PMID:32964447|PMID:33074564|PMID:33226606|PMID:33391346|PMID:33436626|PMID:33532864|PMID:33575217|PMID:33686467|PMID:34070849|PMID:34489640|PMID:34754157|PMID:35307828|PMID:36232477|PMID:4461062|PMID:5279523|PMID:7581393|PMID:7823706|PMID:8634701|PMID:8799170|PMID:8824881|PMID:8825048|PMID:9045618|PMID:9076719|PMID:9242607|PMID:9285776|PMID:9302281|PMID:9328481|PMID:9361032|PMID:9412784|PMID:9452050|PMID:9463313|PMID:9536098|PMID:9580671|PMID:9829910|PMID:9881533 11966022 TSC2 TSC complex subunit 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 11966022 TSC2 TSC complex subunit 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11966022 TSC2 TSC complex subunit 2 gene DOID:10487 Hirschsprung's disease ISO RGD:736193 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:10205261|PMID:15798777|PMID:17304050|PMID:22703879|PMID:24728327|PMID:25741868|PMID:28492532 11966022 TSC2 TSC complex subunit 2 gene DOID:1059 intellectual disability ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:17304050|PMID:25741868 11966022 TSC2 TSC complex subunit 2 gene DOID:10652 Alzheimer's disease ISO RGD:736193 D RGD:9068941 20200609 RGD PMID:16341938|REF_RGD_ID:1580518 11966022 TSC2 TSC complex subunit 2 gene DOID:127 leiomyoma ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15937110 11966022 TSC2 TSC complex subunit 2 gene DOID:127 leiomyoma ISO RGD:736193 D RGD:9068941 20200609 RGD PMID:21145542|REF_RGD_ID:11568684 11966022 TSC2 TSC complex subunit 2 gene DOID:12849 autistic disorder ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14627686 11966022 TSC2 TSC complex subunit 2 gene DOID:13223 uterine fibroid ISO RGD:11457 D RGD:9068941 20220825 MouseDO OMIM:150699 11966022 TSC2 TSC complex subunit 2 gene DOID:13515 tuberous sclerosis ISO RGD:736193 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cortical tubers | ClinVar Annotator: match by term: Tuberous sclerosis syndrome PMID:10069705|PMID:10090883|PMID:10205261|PMID:10206124|PMID:10215407|PMID:10227394|PMID:10330349|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10577937|PMID:10607950|PMID:10633137|PMID:10732801|PMID:10735580|PMID:10823953|PMID:10905251|PMID:10942116|PMID:11068191|PMID:11112665|PMID:1112665|PMID:11208653|PMID:11290735|PMID:11403047|PMID:11437991|PMID:11468687|PMID:11520734|PMID:11521203|PMID:11603814|PMID:11741832|PMID:11741833|PMID:11810271|PMID:11829138|PMID:12015165|PMID:12062115|PMID:12086608|PMID:12111193|PMID:12136241|PMID:12235314|PMID:12511557|PMID:12752578|PMID:12906785|PMID:12913212|PMID:14508401|PMID:14641237|PMID:14718525|PMID:14756965|PMID:14993219|PMID:15024740|PMID:15072102|PMID:15121792|PMID:15121797|PMID:1520333|PMID:15236319|PMID:15483652|PMID:15595939|PMID:15712319|PMID:15798777|PMID:15874888|PMID:15963462|PMID:16032769|PMID:16042315|PMID:16114042|PMID:16129702|PMID:16199547|PMID:16237225|PMID:16417848|PMID:16464865|PMID:16554133|PMID:16822245|PMID:16877242|PMID:16981987|PMID:17034546|PMID:17120248|PMID:17304050|PMID:17536269|PMID:17576681|PMID:17681840|PMID:18032745|PMID:18302728|PMID:18308511|PMID:18410267|PMID:18411301|PMID:18414213|PMID:18550814|PMID:18695678|PMID:1870099|PMID:18772611|PMID:18792920|PMID:18830229|PMID:18854862|PMID:19254590|PMID:19258292|PMID:19259131|PMID:19369101|PMID:19419980|PMID:19747374|PMID:19823873|PMID:20108343|PMID:20165957|PMID:2039137|PMID:20399389|PMID:20498439|PMID:20633017|PMID:21309039|PMID:21332470|PMID:21407264|PMID:21418539|PMID:21510812|PMID:21520333|PMID:21567926|PMID:21624971|PMID:21811971|PMID:21846442|PMID:21910228|PMID:22055460|PMID:22161988|PMID:22189265|PMID:22343534|PMID:22490766|PMID:22552000|PMID:22558107|PMID:22703879|PMID:22707510|PMID:22805177|PMID:22867869|PMID:22903760|PMID:22974335|PMID:22995991|PMID:23006675|PMID:23217510|PMID:23254740|PMID:23389244|PMID:23504366|PMID:23514105|PMID:23955302|PMID:24033266|PMID:24055113|PMID:24271014|PMID:24412076|PMID:24668795|PMID:24728327|PMID:24789117|PMID:25039834|PMID:25058500|PMID:25088526|PMID:25180276|PMID:25203624|PMID:25231023|PMID:25281918|PMID:25338684|PMID:25401301|PMID:25432535|PMID:25498131|PMID:25525159|PMID:25593300|PMID:25599672|PMID:25637381|PMID:25741868|PMID:25782670|PMID:25862857|PMID:25911330|PMID:25927202|PMID:26155992|PMID:26332594|PMID:26467025|PMID:26489027|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26633542|PMID:26703369|PMID:26994145|PMID:27060308|PMID:27078846|PMID:27153395|PMID:27174333|PMID:27176796|PMID:27194594|PMID:27406250|PMID:27493206|PMID:27494029|PMID:27600092|PMID:27621404|PMID:27757534|PMID:27854218|PMID:27859028|PMID:27884173|PMID:27930734|PMID:28065512|PMID:28074849|PMID:28087349|PMID:28127866|PMID:28149746|PMID:28178598|PMID:28202063|PMID:28211972|PMID:28250423|PMID:28397210|PMID:28409891|PMID:28492532|PMID:28505269|PMID:28600779|PMID:28623545|PMID:28643795|PMID:28771801|PMID:28786016|PMID:28968464|PMID:2903760|PMID:29101226|PMID:29167182|PMID:29196670|PMID:29271092|PMID:29286531|PMID:29308833|PMID:29344138|PMID:29432982|PMID:29476190|PMID:29500070|PMID:29641532|PMID:29642139|PMID:29655203|PMID:29740858|PMID:29801666|PMID:29925043|PMID:29932062|PMID:29933521|PMID:30024541|PMID:30036593|PMID:30093976|PMID:30185235|PMID:30255984|PMID:30548481|PMID:30712878|PMID:30986793|PMID:31005478|PMID:31018109|PMID:31370276|PMID:31444548|PMID:31586081|PMID:31591157|PMID:31799751|PMID:31855466|PMID:31856217|PMID:31927531|PMID:32211034|PMID:32313033|PMID:32382396|PMID:32461669|PMID:32502382|PMID:32555378|PMID:32581362|PMID:32830346|PMID:32860008|PMID:32917028|PMID:32917966|PMID:33074564|PMID:33391346|PMID:33532864|PMID:34070849|PMID:34489640|PMID:34754157|PMID:36232477|PMID:4461062|PMID:5279523|PMID:7581393|PMID:7823706|PMID:8634701|PMID:8824881|PMID:8825048|PMID:9076719|PMID:9242607|PMID:9285776|PMID:9302281|PMID:9328481|PMID:9361032|PMID:9412784|PMID:9452050|PMID:9463313|PMID:9536098|PMID:9829910|PMID:9881533 11966022 TSC2 TSC complex subunit 2 gene DOID:1612 breast cancer disease_progression ISO RGD:736193 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:breast PMID:15951164|REF_RGD_ID:11568707 11966022 TSC2 TSC complex subunit 2 gene DOID:1749 squamous cell carcinoma ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18538015 11966022 TSC2 TSC complex subunit 2 gene DOID:1793 pancreatic cancer ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19917848 11966022 TSC2 TSC complex subunit 2 gene DOID:1826 epilepsy ISO RGD:736193 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:17304050|PMID:25741868|PMID:26467025|PMID:28492532 11966022 TSC2 TSC complex subunit 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11966022 TSC2 TSC complex subunit 2 gene DOID:2394 ovarian cancer ISO RGD:736193 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:10732801|PMID:15798777|PMID:16114042|PMID:17304050|PMID:18302728|PMID:21309039|PMID:22703879|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:27930734|PMID:28492532|PMID:29641532|PMID:30548481|PMID:32830346|PMID:32917966|PMID:33575217 11966022 TSC2 TSC complex subunit 2 gene DOID:255 hemangioma ISO RGD:11457 D RGD:9068941 20200609 RGD PMID:10096549|REF_RGD_ID:11568655 11966022 TSC2 TSC complex subunit 2 gene DOID:2871 endometrial carcinoma ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 11966022 TSC2 TSC complex subunit 2 gene DOID:3314 angiomyolipoma ISO RGD:736193 D RGD:9068941 20200609 RGD associated with Tuberous Sclerosis;protein:decreased expression, increased threonine phosphorylation:kidney PMID:19265534|REF_RGD_ID:8657154 11966022 TSC2 TSC complex subunit 2 gene DOID:3317 hepatic angiomyolipoma ISO RGD:11457 D RGD:9068941 20200609 RGD DNA:mutations:multiple PMID:29512829|REF_RGD_ID:21079730 11966022 TSC2 TSC complex subunit 2 gene DOID:3317 hepatic angiomyolipoma ISO RGD:11457 D RGD:9068941 20200609 RGD associated with tuberous sclerosis;DNA:mutations:multiple PMID:22251200|REF_RGD_ID:21079732 11966022 TSC2 TSC complex subunit 2 gene DOID:3317 hepatic angiomyolipoma ISO RGD:3908 D RGD:9068941 20200609 RGD DNA:mutations:multiple PMID:29512829|REF_RGD_ID:21079730 11966022 TSC2 TSC complex subunit 2 gene DOID:3317 hepatic angiomyolipoma ISO RGD:3908 D RGD:9068941 20200609 RGD associated with tuberous sclerosis;DNA:mutations:multiple PMID:22251200|REF_RGD_ID:21079732 11966022 TSC2 TSC complex subunit 2 gene DOID:3317 hepatic angiomyolipoma ISO RGD:736193 D RGD:9068941 20200609 RGD DNA:mutations:multiple PMID:29512829|REF_RGD_ID:21079730 11966022 TSC2 TSC complex subunit 2 gene DOID:3317 hepatic angiomyolipoma ISO RGD:736193 D RGD:9068941 20200609 RGD associated with tuberous sclerosis;DNA:mutations:multiple PMID:22251200|REF_RGD_ID:21079732 11966022 TSC2 TSC complex subunit 2 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:736193 D RGD:7240710 20180130 OMIM 11966022 TSC2 TSC complex subunit 2 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:736193 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lymphangioleiomyomatosis | ClinVar Annotator: match by term: Lymphangiomyomatosis PMID:10090883|PMID:10205261|PMID:10215407|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10577937|PMID:10607950|PMID:10633137|PMID:10732801|PMID:10735580|PMID:10823953|PMID:10905251|PMID:10942116|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11290735|PMID:11520734|PMID:11521203|PMID:11603814|PMID:11741832|PMID:11741833|PMID:11829138|PMID:12015165|PMID:12062115|PMID:12086608|PMID:12111193|PMID:12136241|PMID:12235314|PMID:12752578|PMID:14641237|PMID:14756965|PMID:14993219|PMID:15024740|PMID:15072102|PMID:15483652|PMID:15595939|PMID:15798777|PMID:15874888|PMID:15963462|PMID:16032769|PMID:16114042|PMID:16129702|PMID:16199547|PMID:16464865|PMID:16554133|PMID:16981987|PMID:17034546|PMID:17120248|PMID:17304050|PMID:17536269|PMID:17576681|PMID:18032745|PMID:18302728|PMID:18308511|PMID:18792920|PMID:18854862|PMID:19254590|PMID:19259131|PMID:19369101|PMID:19747374|PMID:19823873|PMID:20108343|PMID:20165957|PMID:20399389|PMID:20633017|PMID:21252315|PMID:21309039|PMID:21332470|PMID:21407264|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:21910228|PMID:22343534|PMID:22552000|PMID:22558107|PMID:22703879|PMID:22805177|PMID:22867869|PMID:22903760|PMID:23006675|PMID:23217510|PMID:23254740|PMID:23389244|PMID:23504366|PMID:23514105|PMID:23955302|PMID:24033266|PMID:24055113|PMID:24271014|PMID:24412076|PMID:24728327|PMID:25039834|PMID:25058500|PMID:25088526|PMID:25231023|PMID:25281918|PMID:25338684|PMID:25432535|PMID:25498131|PMID:25525159|PMID:25599672|PMID:25637381|PMID:25741868|PMID:25862857|PMID:25927202|PMID:26155992|PMID:26332594|PMID:26467025|PMID:26489027|PMID:26540169|PMID:26633542|PMID:26703369|PMID:27153395|PMID:27174333|PMID:27176796|PMID:27406250|PMID:27493206|PMID:27600092|PMID:27757534|PMID:27859028|PMID:27884173|PMID:27930734|PMID:28065512|PMID:28087349|PMID:28127866|PMID:28149746|PMID:28178598|PMID:28250423|PMID:28397210|PMID:28409891|PMID:28492532|PMID:28505269|PMID:28968464|PMID:29167182|PMID:29196670|PMID:29271092|PMID:29286531|PMID:29308833|PMID:29344138|PMID:29476190|PMID:29500070|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29801666|PMID:30255984|PMID:30712878|PMID:30986793|PMID:31005478|PMID:31018109|PMID:31370276|PMID:31525612|PMID:31586081|PMID:31591157|PMID:31875159|PMID:32211034|PMID:32313033|PMID:32410215|PMID:32502382|PMID:32555378|PMID:32860008|PMID:34070849|PMID:5279523|PMID:8824881|PMID:9076719|PMID:9285776|PMID:9302281|PMID:9412784|PMID:9463313|PMID:9536098|PMID:9829910 11966022 TSC2 TSC complex subunit 2 gene DOID:3376 bone osteosarcoma ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone osteosarcoma PMID:25741868|PMID:26822237 11966022 TSC2 TSC complex subunit 2 gene DOID:3587 pancreatic ductal carcinoma severity ISO RGD:736193 D RGD:9068941 20200609 RGD PMID:16213898|REF_RGD_ID:11568674 11966022 TSC2 TSC complex subunit 2 gene DOID:4450 renal cell carcinoma ISO RGD:11457 D RGD:9068941 20200609 RGD PMID:10096549|REF_RGD_ID:11568655 11966022 TSC2 TSC complex subunit 2 gene DOID:4450 renal cell carcinoma ISO RGD:3908 D RGD:9068941 20200609 RGD DNA:nonsense mutations;missense mutations; splice-site mutation:multiple PMID:10029074|REF_RGD_ID:68666 11966022 TSC2 TSC complex subunit 2 gene DOID:4450 renal cell carcinoma treatment ISO RGD:3908 D RGD:9068941 20200609 RGD PMID:18695678|REF_RGD_ID:11568661 11966022 TSC2 TSC complex subunit 2 gene DOID:630 genetic disease ISO RGD:736193 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10090883|PMID:10205261|PMID:11112665|PMID:15121797|PMID:15798777|PMID:17304050|PMID:20633017|PMID:21510812|PMID:21520333|PMID:25741868|PMID:25782670|PMID:26467025|PMID:28065512|PMID:28492532|PMID:31785789 11966022 TSC2 TSC complex subunit 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:11457 D RGD:9068941 20200609 RGD protein:decreased expression:liver (human) PMID:24119083|REF_RGD_ID:21079731 11966022 TSC2 TSC complex subunit 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:3908 D RGD:9068941 20200609 RGD protein:decreased expression:liver (human) PMID:24119083|REF_RGD_ID:21079731 11966022 TSC2 TSC complex subunit 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:736193 D RGD:9068941 20200609 RGD protein:decreased expression:liver (human) PMID:24119083|REF_RGD_ID:21079731 11966022 TSC2 TSC complex subunit 2 gene DOID:769 neuroblastoma ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26822237 11966022 TSC2 TSC complex subunit 2 gene DOID:8725 vascular dementia ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:28492532|PMID:35307828 11966022 TSC2 TSC complex subunit 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:736193 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:15951164|REF_RGD_ID:11568707 11966022 TSC2 TSC complex subunit 2 gene DOID:9000972 Fever ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic fever PMID:28492532 11966022 TSC2 TSC complex subunit 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11170505|PMID:12110509|PMID:21693435 11966022 TSC2 TSC complex subunit 2 gene DOID:9002453 Cafe-au-Lait Spots ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cafe-au-lait spot PMID:25741868|PMID:28492532|PMID:30311386 11966022 TSC2 TSC complex subunit 2 gene DOID:9002955 Nerve Degeneration ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21419848 11966022 TSC2 TSC complex subunit 2 gene DOID:9003122 Rhabdomyoma ISO RGD:736193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rhabdomyoma PMID:10205261|PMID:17304050|PMID:25741868|PMID:28492532|PMID:32211034|PMID:32313033 11966022 TSC2 TSC complex subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11966022 TSC2 TSC complex subunit 2 gene DOID:9005077 Joint Instability ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:25741868|PMID:28492532|PMID:30311386 11966022 TSC2 TSC complex subunit 2 gene DOID:9005172 Lung Neoplasms ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30008631 11966022 TSC2 TSC complex subunit 2 gene DOID:9005372 Inflammation ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 11966022 TSC2 TSC complex subunit 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3908 D RGD:9068941 20200609 RGD protein:increased threonine phosphorylation:cortex of kidney PMID:18599524|REF_RGD_ID:8657153 11966022 TSC2 TSC complex subunit 2 gene DOID:9006065 Arthralgia ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthralgia PMID:25741868|PMID:28492532|PMID:30311386 11966022 TSC2 TSC complex subunit 2 gene DOID:9006534 Nervous System Malformations ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11966022 TSC2 TSC complex subunit 2 gene DOID:9006741 Acute Hepatitis ISO RGD:3908 D RGD:9068941 20200609 RGD PMID:20033472|REF_RGD_ID:11568659 11966022 TSC2 TSC complex subunit 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736193 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090883|PMID:10205261|PMID:10215407|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10577937|PMID:10607950|PMID:10633137|PMID:10732801|PMID:10735580|PMID:10823953|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11437991|PMID:11521203|PMID:11603814|PMID:11741832|PMID:11741833|PMID:11810271|PMID:11829138|PMID:12015165|PMID:12062115|PMID:12086608|PMID:12111193|PMID:12136241|PMID:12235314|PMID:12752578|PMID:14993219|PMID:15024740|PMID:15072102|PMID:15121797|PMID:15141215|PMID:15483652|PMID:15595939|PMID:15798777|PMID:15851026|PMID:15874888|PMID:15963462|PMID:16032769|PMID:16042315|PMID:16114042|PMID:16129702|PMID:16464865|PMID:16554133|PMID:16981987|PMID:17005952|PMID:17120248|PMID:17304050|PMID:17536269|PMID:17576681|PMID:17671177|PMID:18032745|PMID:18302728|PMID:18308511|PMID:18414213|PMID:18722871|PMID:18854862|PMID:19166931|PMID:19254590|PMID:19258292|PMID:19369101|PMID:19747374|PMID:20108343|PMID:20165957|PMID:2039137|PMID:20399389|PMID:20498439|PMID:20633017|PMID:21252315|PMID:21309039|PMID:21332470|PMID:21407264|PMID:21510812|PMID:21520333|PMID:21572417|PMID:21624971|PMID:21811971|PMID:21819393|PMID:21910228|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22867869|PMID:22903760|PMID:22995991|PMID:23006675|PMID:23254740|PMID:23389244|PMID:23504366|PMID:23514105|PMID:23955302|PMID:24033266|PMID:24055113|PMID:24412076|PMID:24425785|PMID:24728327|PMID:24770934|PMID:25058500|PMID:25088526|PMID:25203624|PMID:25231023|PMID:25281918|PMID:25338684|PMID:25432535|PMID:25498131|PMID:25525159|PMID:25599672|PMID:25637381|PMID:25741868|PMID:25782670|PMID:25862857|PMID:25900779|PMID:25911330|PMID:26155992|PMID:26332594|PMID:26467025|PMID:26489027|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26633542|PMID:26703369|PMID:27153395|PMID:27174333|PMID:27176796|PMID:27493206|PMID:27600092|PMID:27884173|PMID:27930734|PMID:28065512|PMID:28087349|PMID:28127866|PMID:28178598|PMID:28211972|PMID:28215400|PMID:28250423|PMID:28397210|PMID:28409891|PMID:28492532|PMID:28505269|PMID:28687356|PMID:28771801|PMID:28873162|PMID:28968464|PMID:29167182|PMID:29271092|PMID:29344138|PMID:29476190|PMID:29500070|PMID:29641532|PMID:29655203|PMID:29740858|PMID:29778030|PMID:29801666|PMID:29868112|PMID:31586081|PMID:31832524|PMID:32193183|PMID:5279523|PMID:8634701|PMID:8824881|PMID:9076719|PMID:9285776|PMID:9302281|PMID:9412784|PMID:9463313|PMID:9536098|PMID:9829910 11966022 TSC2 TSC complex subunit 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736193 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090883|PMID:10205261|PMID:10215407|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10577937|PMID:10607950|PMID:10633137|PMID:10732801|PMID:10735580|PMID:10823953|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11437991|PMID:11521203|PMID:11603814|PMID:11741832|PMID:11741833|PMID:11810271|PMID:11829138|PMID:12015165|PMID:12062115|PMID:12086608|PMID:12111193|PMID:12136241|PMID:12235314|PMID:12752578|PMID:14993219|PMID:15024740|PMID:15072102|PMID:15121797|PMID:15141215|PMID:15483652|PMID:15595939|PMID:15798777|PMID:15851026|PMID:15874888|PMID:15963462|PMID:16032769|PMID:16042315|PMID:16114042|PMID:16129702|PMID:16464865|PMID:16554133|PMID:16981987|PMID:17005952|PMID:17120248|PMID:17304050|PMID:17536269|PMID:17576681|PMID:17671177|PMID:18032745|PMID:18302728|PMID:18308511|PMID:18414213|PMID:18722871|PMID:18854862|PMID:19166931|PMID:19254590|PMID:19258292|PMID:19369101|PMID:19747374|PMID:20108343|PMID:20165957|PMID:2039137|PMID:20399389|PMID:20498439|PMID:20633017|PMID:21252315|PMID:21309039|PMID:21332470|PMID:21407264|PMID:21510812|PMID:21520333|PMID:21572417|PMID:21624971|PMID:21811971|PMID:21819393|PMID:21910228|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22867869|PMID:22903760|PMID:22995991|PMID:23006675|PMID:23254740|PMID:23389244|PMID:23504366|PMID:23514105|PMID:23955302|PMID:24033266|PMID:24055113|PMID:24412076|PMID:24425785|PMID:24728327|PMID:24770934|PMID:25058500|PMID:25088526|PMID:25203624|PMID:25231023|PMID:25281918|PMID:25338684|PMID:25432535|PMID:25498131|PMID:25525159|PMID:25599672|PMID:25637381|PMID:25741868|PMID:25782670|PMID:25862857|PMID:25900779|PMID:25911330|PMID:26155992|PMID:26332594|PMID:26467025|PMID:26489027|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26633542|PMID:26703369|PMID:27153395|PMID:27174333|PMID:27176796|PMID:27493206|PMID:27600092|PMID:27884173|PMID:27930734|PMID:28065512|PMID:28087349|PMID:28127866|PMID:28178598|PMID:28211972|PMID:28215400|PMID:28250423|PMID:28397210|PMID:28409891|PMID:28492532|PMID:28505269|PMID:28687356|PMID:28771801|PMID:28873162|PMID:28968464|PMID:2903760|PMID:29167182|PMID:29271092|PMID:29344138|PMID:29432982|PMID:29476190|PMID:29500070|PMID:29641532|PMID:29655203|PMID:29740858|PMID:29778030|PMID:29801666|PMID:29868112|PMID:30093976|PMID:30763456|PMID:31018109|PMID:31586081|PMID:31650098|PMID:31799751|PMID:31832524|PMID:31856217|PMID:32193183|PMID:32313033|PMID:32502382|PMID:32555378|PMID:32830346|PMID:32917028|PMID:32917966|PMID:33226606|PMID:33686467|PMID:34070849|PMID:5279523|PMID:8634701|PMID:8824881|PMID:9076719|PMID:9285776|PMID:9302281|PMID:9412784|PMID:9463313|PMID:9536098|PMID:9829910 11966022 TSC2 TSC complex subunit 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736193 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090883|PMID:10205261|PMID:10215407|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10577937|PMID:10607950|PMID:10633137|PMID:10732801|PMID:10735580|PMID:10823953|PMID:10905251|PMID:10942116|PMID:11068191|PMID:11112665|PMID:1112665|PMID:11208653|PMID:11290735|PMID:11403047|PMID:11437991|PMID:11520734|PMID:11521203|PMID:11603814|PMID:11741832|PMID:11741833|PMID:11810271|PMID:11829138|PMID:12015165|PMID:12062115|PMID:12086608|PMID:12111193|PMID:12136241|PMID:12235314|PMID:12752578|PMID:12869586|PMID:12906785|PMID:14508401|PMID:14641237|PMID:14718525|PMID:14756965|PMID:14993219|PMID:15024740|PMID:15072102|PMID:15121792|PMID:15121797|PMID:15141215|PMID:15483652|PMID:15595939|PMID:15798777|PMID:15851026|PMID:15874888|PMID:15963462|PMID:16032769|PMID:16042315|PMID:16114042|PMID:16129702|PMID:16199547|PMID:16237225|PMID:16417848|PMID:16464865|PMID:16554133|PMID:16822245|PMID:16981987|PMID:17005952|PMID:17034546|PMID:17120248|PMID:17304050|PMID:17536269|PMID:17576681|PMID:17671177|PMID:18032745|PMID:18302728|PMID:18308511|PMID:18411301|PMID:18414213|PMID:18550814|PMID:18722871|PMID:18772611|PMID:18792920|PMID:18854862|PMID:19166931|PMID:19254590|PMID:19258292|PMID:19259131|PMID:19369101|PMID:19747374|PMID:19823873|PMID:20108343|PMID:20165957|PMID:2039137|PMID:20399389|PMID:20498439|PMID:20633017|PMID:21252315|PMID:21309039|PMID:21332470|PMID:21407201|PMID:21407264|PMID:21510812|PMID:21520333|PMID:21572417|PMID:21624971|PMID:21811971|PMID:21846442|PMID:21910228|PMID:22055460|PMID:22161988|PMID:22189265|PMID:22343534|PMID:22490766|PMID:22495309|PMID:22552000|PMID:22558107|PMID:22703879|PMID:22805177|PMID:22867869|PMID:22903760|PMID:22995991|PMID:23006675|PMID:23254740|PMID:23389244|PMID:23504366|PMID:23514105|PMID:23955302|PMID:24033266|PMID:24055113|PMID:24271014|PMID:24412076|PMID:24728327|PMID:24770934|PMID:25039834|PMID:25058500|PMID:25088526|PMID:25180276|PMID:25203624|PMID:25231023|PMID:25281918|PMID:25338684|PMID:25363768|PMID:25401301|PMID:25432535|PMID:25498131|PMID:25525159|PMID:25593300|PMID:25599672|PMID:25637381|PMID:25741868|PMID:25782670|PMID:25862857|PMID:25892863|PMID:25900779|PMID:25911330|PMID:25927202|PMID:26155992|PMID:26332594|PMID:26467025|PMID:26489027|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26633542|PMID:26637798|PMID:26703369|PMID:26994145|PMID:27061015|PMID:27078846|PMID:27153395|PMID:27174333|PMID:27176796|PMID:27406250|PMID:27493206|PMID:27600092|PMID:27621404|PMID:27824329|PMID:27854218|PMID:27859028|PMID:27884173|PMID:27930734|PMID:28065512|PMID:28087349|PMID:28127866|PMID:28149746|PMID:28178598|PMID:28191889|PMID:28202063|PMID:28211972|PMID:28215400|PMID:28250423|PMID:28397210|PMID:28407358|PMID:28409891|PMID:28492532|PMID:28505269|PMID:28623545|PMID:28643795|PMID:28687356|PMID:28771801|PMID:28786016|PMID:28873162|PMID:28968464|PMID:2903760|PMID:29101226|PMID:29167182|PMID:29196670|PMID:29271092|PMID:29286531|PMID:29308833|PMID:29344138|PMID:29432982|PMID:29476190|PMID:29500070|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29740858|PMID:29778030|PMID:29801666|PMID:29868112|PMID:29892012|PMID:29930392|PMID:29932062|PMID:29933521|PMID:30024541|PMID:30036593|PMID:30086788|PMID:30093976|PMID:30185235|PMID:30255984|PMID:30311386|PMID:30336374|PMID:30548481|PMID:30712878|PMID:30763456|PMID:30911571|PMID:30986793|PMID:31005478|PMID:31018109|PMID:31370276|PMID:31444548|PMID:31525612|PMID:31586081|PMID:31591157|PMID:31623367|PMID:31650098|PMID:31799751|PMID:31832524|PMID:31856217|PMID:31875159|PMID:31927531|PMID:31981491|PMID:32193183|PMID:32211034|PMID:32313033|PMID:32382396|PMID:32502382|PMID:32555378|PMID:32581362|PMID:32830346|PMID:32849516|PMID:32860008|PMID:32917028|PMID:32917966|PMID:33226606|PMID:33436626|PMID:33532864|PMID:33575217|PMID:33686467|PMID:34070849|PMID:34489640|PMID:34754157|PMID:35307828|PMID:36232477|PMID:5279523|PMID:8634701|PMID:8824881|PMID:9076719|PMID:9285776|PMID:9302281|PMID:9412784|PMID:9463313|PMID:9536098|PMID:9829910 11966022 TSC2 TSC complex subunit 2 gene DOID:9007253 Hamartoma ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hamartoma PMID:25741868 11966022 TSC2 TSC complex subunit 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18538015 11966022 TSC2 TSC complex subunit 2 gene DOID:9007456 Female Infertility ISO RGD:11457 D RGD:9068941 20200609 RGD PMID:25189766|REF_RGD_ID:11568667 11966022 TSC2 TSC complex subunit 2 gene DOID:9007502 Brain Neoplasms ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of brain PMID:10205261|PMID:10533067|PMID:10735580|PMID:11208653|PMID:11603814|PMID:12136241|PMID:15798777|PMID:16114042|PMID:17304050|PMID:18854862|PMID:21309039|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 11966022 TSC2 TSC complex subunit 2 gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:736193 D RGD:7240710 20190315 OMIM 11966022 TSC2 TSC complex subunit 2 gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal cortical dysplasia type 2 PMID:15798777|PMID:21309039|PMID:22703879|PMID:22903760|PMID:24033266|PMID:24728327|PMID:25741868|PMID:28215400|PMID:28492532 11966022 TSC2 TSC complex subunit 2 gene DOID:9119 acute myeloid leukemia ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19250671 11966022 TSC2 TSC complex subunit 2 gene DOID:936 brain disease ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21062901 11966079 TNFSF18 TNF superfamily member 18 gene DOID:1540 parathyroid carcinoma ISO RGD:1312875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11966079 TNFSF18 TNF superfamily member 18 gene DOID:3755 antithrombin III deficiency ISO RGD:1312875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 11966079 TNFSF18 TNF superfamily member 18 gene DOID:630 genetic disease ISO RGD:1312875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11966079 TNFSF18 TNF superfamily member 18 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1312875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 11966079 TNFSF18 TNF superfamily member 18 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1312875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 11966079 TNFSF18 TNF superfamily member 18 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11966086 IRX6 iroquois homeobox 6 gene DOID:0050777 Joubert syndrome ISO RGD:1344383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:17558409|PMID:28492532 11966086 IRX6 iroquois homeobox 6 gene DOID:630 genetic disease ISO RGD:1344383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11966096 LOC100975448 olfactory receptor 52A1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1342762 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11966096 LOC100975448 olfactory receptor 52A1 gene DOID:630 genetic disease ISO RGD:1342762 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11966099 ADAMTS14 ADAM metallopeptidase with thrombospondin type 1 motif 14 gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:1318933 D RGD:9068941 20200609 RGD DNA:SNPs:intron: A>G, C>G (human) PMID:15913795|REF_RGD_ID:6771190 11966099 ADAMTS14 ADAM metallopeptidase with thrombospondin type 1 motif 14 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1318933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 11966099 ADAMTS14 ADAM metallopeptidase with thrombospondin type 1 motif 14 gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:1318933 D RGD:9068941 20200609 RGD DNA:SNP:intron: C>T (human) PMID:15913795|REF_RGD_ID:6771190 11966099 ADAMTS14 ADAM metallopeptidase with thrombospondin type 1 motif 14 gene DOID:630 genetic disease ISO RGD:1318933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11966099 ADAMTS14 ADAM metallopeptidase with thrombospondin type 1 motif 14 gene DOID:8398 osteoarthritis ISO RGD:1318933 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: (rs4747096) (human) PMID:18790654|REF_RGD_ID:6771189 11966127 IHO1 interactor of HORMAD1 1 gene DOID:0060852 Pierson syndrome ISO RGD:1605539 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 11966127 IHO1 interactor of HORMAD1 1 gene DOID:630 genetic disease ISO RGD:1605539 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11966127 IHO1 interactor of HORMAD1 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1605539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11966138 AFG2A AFG2 AAA ATPase homolog A gene DOID:1826 epilepsy ISO RGD:1321404 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11966138 AFG2A AFG2 AAA ATPase homolog A gene DOID:5419 schizophrenia ISO RGD:1321404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 11966138 AFG2A AFG2 AAA ATPase homolog A gene DOID:630 genetic disease ISO RGD:1321404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:25741868|PMID:26299366|PMID:28293831|PMID:28492532 11966138 AFG2A AFG2 AAA ATPase homolog A gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1321404 D RGD:7240710 20180130 OMIM 11966138 AFG2A AFG2 AAA ATPase homolog A gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1321404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:26299366|PMID:26467025|PMID:27683084|PMID:28293831|PMID:28492532|PMID:28513609|PMID:29343804|PMID:29389922|PMID:30552426|PMID:31912665|PMID:9536098 11966138 AFG2A AFG2 AAA ATPase homolog A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11966166 CCR8 C-C motif chemokine receptor 8 gene DOID:1824 status epilepticus ISO RGD:1312592 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17181556 11966166 CCR8 C-C motif chemokine receptor 8 gene DOID:2841 asthma ISO RGD:1304893 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15993846|REF_RGD_ID:2306304 11966166 CCR8 C-C motif chemokine receptor 8 gene DOID:3770 pulmonary fibrosis ISO RGD:1304893 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15993846|REF_RGD_ID:2306304 11966166 CCR8 C-C motif chemokine receptor 8 gene DOID:630 genetic disease ISO RGD:1312592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11966177 LOC100991542 keratin-associated protein 12-3 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1350615 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 11966177 LOC100991542 keratin-associated protein 12-3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1350615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11966177 LOC100991542 keratin-associated protein 12-3 gene DOID:0110266 cataract 9 multiple types ISO RGD:1350615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11966177 LOC100991542 keratin-associated protein 12-3 gene DOID:12849 autistic disorder ISO RGD:1350615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11966177 LOC100991542 keratin-associated protein 12-3 gene DOID:630 genetic disease ISO RGD:1350615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11966177 LOC100991542 keratin-associated protein 12-3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1350615 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11966177 LOC100991542 keratin-associated protein 12-3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11966177 LOC100991542 keratin-associated protein 12-3 gene DOID:9263 homocystinuria ISO RGD:1350615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11966177 LOC100991542 keratin-associated protein 12-3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1350615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11966187 HNF1A HNF1 homeobox A gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:737153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:23771925|PMID:25741868|PMID:28492532|PMID:31517624|PMID:32395877|PMID:35328643|PMID:35673428 11966187 HNF1A HNF1 homeobox A gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:737153 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10027593|PMID:10102714|PMID:10333057|PMID:10447526|PMID:10581189|PMID:10585442|PMID:10588527|PMID:10634407|PMID:10690959|PMID:10754480|PMID:10852449|PMID:10966642|PMID:11058894|PMID:11162430|PMID:11272211|PMID:11289470|PMID:11296231|PMID:11315828|PMID:11315851|PMID:11393552|PMID:11463573|PMID:11668618|PMID:11692182|PMID:11719843|PMID:11904371|PMID:11942313|PMID:12050210|PMID:12107757|PMID:12355088|PMID:12359128|PMID:12378390|PMID:12453420|PMID:12453976|PMID:12488961|PMID:12530534|PMID:12574234|PMID:12618559|PMID:12627330|PMID:12675668|PMID:12788852|PMID:12832318|PMID:14614204|PMID:14747304|PMID:15031772|PMID:15114102|PMID:15277395|PMID:15305805|PMID:15522234|PMID:15649945|PMID:15657605|PMID:15726414|PMID:15761192|PMID:15841481|PMID:15883474|PMID:15928245|PMID:16046319|PMID:16186275|PMID:16249556|PMID:16274290|PMID:16496320|PMID:16562587|PMID:16602010|PMID:16917892|PMID:16963153|PMID:17033837|PMID:17054605|PMID:17062882|PMID:17116178|PMID:17192490|PMID:17220065|PMID:17407072|PMID:17407387|PMID:17425917|PMID:17440016|PMID:17496355|PMID:17573900|PMID:17601994|PMID:17700391|PMID:17919177|PMID:17924661|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18221440|PMID:18332101|PMID:18414213|PMID:18439552|PMID:18498634|PMID:18513305|PMID:18672310|PMID:18811724|PMID:18838325|PMID:19150152|PMID:19169489|PMID:19336507|PMID:19672314|PMID:19754856|PMID:19929997|PMID:20031592|PMID:20132997|PMID:20210571|PMID:20393147|PMID:20690076|PMID:20705777|PMID:20981092|PMID:21051477|PMID:21168233|PMID:21170474|PMID:21224407|PMID:21395678|PMID:21628466|PMID:21648289|PMID:21683639|PMID:21696527|PMID:21761282|PMID:21823540|PMID:22060211|PMID:22348187|PMID:22432108|PMID:23139355|PMID:23274891|PMID:23348805|PMID:23517481|PMID:23551881|PMID:23607861|PMID:23610083|PMID:23616187|PMID:23624530|PMID:23771925|PMID:24014008|PMID:24033266|PMID:24097065|PMID:24698406|PMID:24728327|PMID:24905847|PMID:24915262|PMID:24933231|PMID:25057215|PMID:25174781|PMID:25306193|PMID:25414397|PMID:25483937|PMID:25525159|PMID:25555642|PMID:25575005|PMID:25741868|PMID:25935773|PMID:26059258|PMID:26110317|PMID:26287533|PMID:26431509|PMID:26446475|PMID:26467025|PMID:26479152|PMID:26817999|PMID:26853433|PMID:26981542|PMID:27148439|PMID:27271189|PMID:27398945|PMID:27458973|PMID:27634015|PMID:27659712|PMID:27899486|PMID:27913849|PMID:28012402|PMID:28105082|PMID:28166811|PMID:28170077|PMID:28395978|PMID:28410371|PMID:28492532|PMID:28597946|PMID:28701371|PMID:28862987|PMID:29207974|PMID:29376044|PMID:29417725|PMID:29439679|PMID:29666556|PMID:29758564|PMID:29844095|PMID:29895593|PMID:29927023|PMID:30155490|PMID:30191644|PMID:30202817|PMID:30293189|PMID:30455330|PMID:30507613|PMID:30663027|PMID:30814848|PMID:31109344|PMID:31166087|PMID:31216263|PMID:31264968|PMID:31363388|PMID:31365591|PMID:31385057|PMID:31485449|PMID:31517624|PMID:31566143|PMID:31576961|PMID:31604004|PMID:31638168|PMID:31673528|PMID:31844173|PMID:31968565|PMID:31968686|PMID:32017842|PMID:32238361|PMID:32395877|PMID:32581083|PMID:32684311|PMID:32910913|PMID:32928877|PMID:33046911|PMID:33363396|PMID:33477506|PMID:33651556|PMID:34668636|PMID:34803393|PMID:35328643|PMID:35673428|PMID:36257325|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9075819|PMID:9097962|PMID:9112026|PMID:9133564|PMID:9166684|PMID:9287053|PMID:9313763|PMID:9313764|PMID:9392505|PMID:9439666|PMID:9604876|PMID:9626139|PMID:9754819 11966187 HNF1A HNF1 homeobox A gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:737153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10027593|PMID:10027594|PMID:10078571|PMID:10102714|PMID:10333057|PMID:10447526|PMID:10581189|PMID:10585442|PMID:10588527|PMID:10634407|PMID:10690959|PMID:10754480|PMID:10852449|PMID:10966642|PMID:11058894|PMID:11162430|PMID:11272211|PMID:11289470|PMID:11296231|PMID:11315828|PMID:11315851|PMID:11393552|PMID:11463573|PMID:11668618|PMID:11692182|PMID:11719843|PMID:11904371|PMID:11938027|PMID:11942313|PMID:11978663|PMID:12050210|PMID:12107757|PMID:12355088|PMID:12359128|PMID:12378390|PMID:12442280|PMID:12453420|PMID:12453976|PMID:12488961|PMID:12530534|PMID:12574234|PMID:12618559|PMID:12627330|PMID:12646418|PMID:12675668|PMID:12788852|PMID:12832318|PMID:14614204|PMID:14747304|PMID:15031772|PMID:15114102|PMID:15277395|PMID:15305805|PMID:15387959|PMID:15522234|PMID:15649945|PMID:15657605|PMID:15726414|PMID:15761192|PMID:15841481|PMID:15883474|PMID:15928245|PMID:16046319|PMID:16186275|PMID:16199547|PMID:16223942|PMID:16249556|PMID:16274290|PMID:16496320|PMID:16562587|PMID:16602010|PMID:16834925|PMID:16917892|PMID:16930618|PMID:16963153|PMID:17033837|PMID:17054605|PMID:17062882|PMID:17116178|PMID:17192490|PMID:17220065|PMID:17407072|PMID:17407387|PMID:17425917|PMID:17440016|PMID:17496355|PMID:17573900|PMID:17601994|PMID:17700391|PMID:17919177|PMID:17924661|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18221440|PMID:18332101|PMID:18414213|PMID:18439552|PMID:18498634|PMID:18513302|PMID:18513305|PMID:18672310|PMID:18811724|PMID:18838325|PMID:19150152|PMID:19169489|PMID:19336507|PMID:19672314|PMID:19754856|PMID:1985954|PMID:19929997|PMID:20031592|PMID:20132997|PMID:20210571|PMID:20393147|PMID:20690076|PMID:20705777|PMID:20981092|PMID:21051477|PMID:21168233|PMID:21170474|PMID:21224407|PMID:21395678|PMID:21628466|PMID:21648289|PMID:21683639|PMID:21696527|PMID:21761282|PMID:21823540|PMID:22060211|PMID:22341299|PMID:22348187|PMID:22413961|PMID:22432108|PMID:22808921|PMID:23139355|PMID:23274891|PMID:23348805|PMID:23517481|PMID:23548576|PMID:23551881|PMID:23607861|PMID:23610083|PMID:23616187|PMID:23624530|PMID:23674172|PMID:23771925|PMID:23803251|PMID:24014008|PMID:24033266|PMID:24041679|PMID:24069322|PMID:24097065|PMID:24323243|PMID:24698406|PMID:24728327|PMID:24905847|PMID:24915262|PMID:24933231|PMID:25057215|PMID:25174781|PMID:25306193|PMID:25414397|PMID:25483937|PMID:25525159|PMID:25555642|PMID:25575005|PMID:25741868|PMID:25887915|PMID:25935773|PMID:26059258|PMID:26110317|PMID:26287533|PMID:26431509|PMID:26446475|PMID:26467025|PMID:26479152|PMID:26552609|PMID:26817999|PMID:26853433|PMID:26981542|PMID:26997508|PMID:27035118|PMID:27083284|PMID:27148439|PMID:27271189|PMID:27398945|PMID:27458973|PMID:27486234|PMID:27634015|PMID:27659712|PMID:27899486|PMID:27913849|PMID:27967291|PMID:28012402|PMID:28105082|PMID:28170077|PMID:28324025|PMID:28395978|PMID:28410371|PMID:28492532|PMID:28597946|PMID:28701371|PMID:28862987|PMID:28938416|PMID:29207974|PMID:29334895|PMID:29376044|PMID:29417725|PMID:29439679|PMID:29666556|PMID:29758564|PMID:29844095|PMID:29895593|PMID:29927023|PMID:30121369|PMID:30155490|PMID:30191644|PMID:30202817|PMID:30293189|PMID:30455330|PMID:30487145|PMID:30507613|PMID:30663027|PMID:30814848|PMID:31109344|PMID:31166087|PMID:31216263|PMID:31264968|PMID:31333579|PMID:31363388|PMID:31365591|PMID:31385057|PMID:31483937|PMID:31485449|PMID:31517624|PMID:31566143|PMID:31576961|PMID:31604004|PMID:31638168|PMID:31673528|PMID:31675503|PMID:31754975|PMID:31844173|PMID:31968565|PMID:31968686|PMID:32017842|PMID:32041611|PMID:32238361|PMID:32375679|PMID:32395877|PMID:32581083|PMID:32684311|PMID:32741144|PMID:32910913|PMID:32928877|PMID:33046911|PMID:33363396|PMID:33459938|PMID:33477506|PMID:33538814|PMID:33651556|PMID:33889819|PMID:33950347|PMID:34035238|PMID:34161864|PMID:34373539|PMID:34440499|PMID:34458657|PMID:34462253|PMID:34496959|PMID:34668636|PMID:34741762|PMID:34803393|PMID:35218126|PMID:35328643|PMID:35673428|PMID:36257325|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9075819|PMID:9097962|PMID:9112026 11966187 HNF1A HNF1 homeobox A gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:737153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:9133564|PMID:9166684|PMID:9287053|PMID:9313763|PMID:9313764|PMID:9392505|PMID:9439666|PMID:9604876|PMID:9626139|PMID:9727913|PMID:9754819|PMID:9867222 11966187 HNF1A HNF1 homeobox A gene DOID:0050788 proximal symphalangism ISO RGD:737153 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger PMID:11938027|PMID:24033266|PMID:24728327|PMID:25741868|PMID:25887915|PMID:28492532|PMID:29334895 11966187 HNF1A HNF1 homeobox A gene DOID:0050868 hepatocellular adenoma exacerbates ISO RGD:737153 D RGD:9068941 20211210 RGD DNA:mutation: (human) PMID:17663417|REF_RGD_ID:150530291 11966187 HNF1A HNF1 homeobox A gene DOID:0050868 hepatocellular adenoma susceptibility ISO RGD:11397 D RGD:9068941 20200609 RGD DNA:frameshift mutation, non-sense mutation:cds:R229X, G55fsX57 (human) PMID:14598263|REF_RGD_ID:14700774 11966187 HNF1A HNF1 homeobox A gene DOID:0050868 hepatocellular adenoma susceptibility ISO RGD:11397 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity, mutations:multiple PMID:12355088|REF_RGD_ID:14700683 11966187 HNF1A HNF1 homeobox A gene DOID:0050868 hepatocellular adenoma susceptibility ISO RGD:3828 D RGD:9068941 20200609 RGD DNA:frameshift mutation, non-sense mutation:cds:R229X, G55fsX57 (human) PMID:14598263|REF_RGD_ID:14700774 11966187 HNF1A HNF1 homeobox A gene DOID:0050868 hepatocellular adenoma susceptibility ISO RGD:3828 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity, mutations:multiple PMID:12355088|REF_RGD_ID:14700683 11966187 HNF1A HNF1 homeobox A gene DOID:0050868 hepatocellular adenoma susceptibility ISO RGD:737153 D RGD:9068941 20200609 RGD DNA:frameshift mutation, non-sense mutation:cds:R229X, G55fsX57 (human) PMID:14598263|REF_RGD_ID:14700774 11966187 HNF1A HNF1 homeobox A gene DOID:0050868 hepatocellular adenoma susceptibility ISO RGD:737153 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity, mutations:multiple PMID:12355088|REF_RGD_ID:14700683 11966187 HNF1A HNF1 homeobox A gene DOID:0110757 type 1 diabetes mellitus 20 ISO RGD:737153 D RGD:7240710 20180130 OMIM 11966187 HNF1A HNF1 homeobox A gene DOID:0110757 type 1 diabetes mellitus 20 ISO RGD:737153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 20 PMID:10333057|PMID:10447526|PMID:10585442|PMID:10754480|PMID:11058894|PMID:11315851|PMID:11393552|PMID:11463573|PMID:11668618|PMID:11692182|PMID:11942313|PMID:12050210|PMID:12355088|PMID:12453420|PMID:12453976|PMID:12530534|PMID:12574234|PMID:12618559|PMID:12627330|PMID:14747304|PMID:15114102|PMID:15649945|PMID:15657605|PMID:15726414|PMID:15883474|PMID:15928245|PMID:16917892|PMID:16930618|PMID:17054605|PMID:17407387|PMID:17440016|PMID:17573900|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18672310|PMID:19150152|PMID:21051477|PMID:21224407|PMID:21236713|PMID:21395678|PMID:21628466|PMID:21648289|PMID:21683639|PMID:21823540|PMID:22808921|PMID:23348805|PMID:23551881|PMID:23607861|PMID:23610083|PMID:23803251|PMID:24097065|PMID:25174781|PMID:25555642|PMID:25741868|PMID:25935773|PMID:26431509|PMID:26467025|PMID:26479152|PMID:27899486|PMID:28012402|PMID:28170077|PMID:28395978|PMID:28492532|PMID:28862987|PMID:29207974|PMID:29417725|PMID:29439679|PMID:30293189|PMID:30814848|PMID:31483937|PMID:31517624|PMID:32395877|PMID:32741144|PMID:32910913|PMID:34373539|PMID:34496959|PMID:35328643|PMID:35673428|PMID:36257325|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9166684|PMID:9313763|PMID:9439666 11966187 HNF1A HNF1 homeobox A gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:737153 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10333057|PMID:10588527|PMID:10634407|PMID:10852449|PMID:11058894|PMID:11942313|PMID:12355088|PMID:12359128|PMID:12574234|PMID:12627330|PMID:12675668|PMID:12788852|PMID:12832318|PMID:15031772|PMID:15657605|PMID:15761192|PMID:15883474|PMID:15928245|PMID:16917892|PMID:16963153|PMID:17033837|PMID:17062882|PMID:17192490|PMID:17220065|PMID:17407072|PMID:17425917|PMID:17440016|PMID:17573900|PMID:17937063|PMID:18003757|PMID:18332101|PMID:18414213|PMID:18439552|PMID:18498634|PMID:18811724|PMID:19754856|PMID:20031592|PMID:20393147|PMID:20690076|PMID:20705777|PMID:21170474|PMID:21761282|PMID:23139355|PMID:23274891|PMID:23348805|PMID:23607861|PMID:24033266|PMID:24097065|PMID:24728327|PMID:24915262|PMID:24933231|PMID:25057215|PMID:25555642|PMID:25741868|PMID:26059258|PMID:26431509|PMID:26467025|PMID:26981542|PMID:27035118|PMID:27458973|PMID:27899486|PMID:28105082|PMID:28492532|PMID:29207974|PMID:29376044|PMID:29758564|PMID:29844095|PMID:30155490|PMID:30202817|PMID:31109344|PMID:31264968|PMID:31385057|PMID:31485449|PMID:31566143|PMID:31673528|PMID:31844173|PMID:31968565|PMID:32910913|PMID:32928877|PMID:33046911|PMID:33477506|PMID:33651556|PMID:34668636|PMID:34803393|PMID:35218126|PMID:35328643|PMID:8945470|PMID:9112026|PMID:9133564|PMID:9287053|PMID:9313764|PMID:9604876|PMID:9867222 11966187 HNF1A HNF1 homeobox A gene DOID:0111102 maturity-onset diabetes of the young type 3 ISO RGD:737153 D RGD:7240710 20180130 OMIM 11966187 HNF1A HNF1 homeobox A gene DOID:0111102 maturity-onset diabetes of the young type 3 ISO RGD:737153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 3 PMID:10027593|PMID:10027594|PMID:10078571|PMID:10333057|PMID:10447526|PMID:10482964|PMID:10585442|PMID:10588527|PMID:10634407|PMID:10649494|PMID:10754480|PMID:10852449|PMID:10966642|PMID:11058894|PMID:11162430|PMID:11272211|PMID:11289470|PMID:11296231|PMID:11315828|PMID:11315851|PMID:11393552|PMID:11463573|PMID:11692182|PMID:11938027|PMID:11942313|PMID:11978663|PMID:12050210|PMID:12107757|PMID:12355088|PMID:12359128|PMID:12378390|PMID:12442280|PMID:12453420|PMID:12453976|PMID:12488961|PMID:12488962|PMID:12530534|PMID:12574234|PMID:12618559|PMID:12627330|PMID:12646418|PMID:12675668|PMID:12788852|PMID:12832318|PMID:14747304|PMID:15031772|PMID:15114102|PMID:15277395|PMID:15305805|PMID:15387959|PMID:15522234|PMID:15649945|PMID:15657605|PMID:15726414|PMID:15761192|PMID:15841481|PMID:15883474|PMID:15928245|PMID:16046319|PMID:16186275|PMID:16199547|PMID:16223942|PMID:16249556|PMID:16274290|PMID:16834925|PMID:16917892|PMID:16963153|PMID:17033837|PMID:17054605|PMID:17062882|PMID:17116178|PMID:17192490|PMID:17220065|PMID:17407072|PMID:17407387|PMID:17425917|PMID:17440016|PMID:17496355|PMID:17573900|PMID:17576681|PMID:17601994|PMID:17700391|PMID:17924661|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18221440|PMID:18332101|PMID:18414213|PMID:18439552|PMID:18498634|PMID:18513302|PMID:18513305|PMID:18672310|PMID:18811724|PMID:18838325|PMID:19150152|PMID:19169489|PMID:19336507|PMID:19339519|PMID:19672314|PMID:19754856|PMID:19929997|PMID:20031592|PMID:20132997|PMID:20210571|PMID:20393147|PMID:20690076|PMID:20705777|PMID:20981092|PMID:21051477|PMID:21168233|PMID:21170474|PMID:21224407|PMID:21236713|PMID:21395678|PMID:21518407|PMID:21628466|PMID:21648289|PMID:21683639|PMID:21696527|PMID:21761282|PMID:21823540|PMID:22060211|PMID:22341299|PMID:22348187|PMID:22413961|PMID:22432108|PMID:22432796|PMID:22802087|PMID:22808921|PMID:23139355|PMID:23274891|PMID:23348805|PMID:23517481|PMID:23548576|PMID:23551881|PMID:23607861|PMID:23610083|PMID:23624530|PMID:23771925|PMID:23803251|PMID:23869231|PMID:24014008|PMID:24033266|PMID:24041679|PMID:24097065|PMID:24323243|PMID:24728327|PMID:24915262|PMID:24933231|PMID:25057215|PMID:25174781|PMID:25306193|PMID:25414397|PMID:25483937|PMID:25555642|PMID:25575005|PMID:25741868|PMID:25887915|PMID:25935773|PMID:26059258|PMID:26110317|PMID:26287533|PMID:26431509|PMID:26467025|PMID:26479152|PMID:26552609|PMID:26853433|PMID:26981542|PMID:26997508|PMID:27035118|PMID:27083284|PMID:27148439|PMID:27271189|PMID:27458973|PMID:27486234|PMID:27659712|PMID:27899486|PMID:27913849|PMID:28012402|PMID:28105082|PMID:28170077|PMID:28324025|PMID:28395978|PMID:28410371|PMID:28492532|PMID:28597946|PMID:28701371|PMID:28862987|PMID:28938416|PMID:29179779|PMID:29207974|PMID:29334895|PMID:29376044|PMID:29417725|PMID:29439679|PMID:29666556|PMID:29758564|PMID:29844095|PMID:29895593|PMID:29927023|PMID:30155490|PMID:30181854|PMID:30191644|PMID:30202817|PMID:30293189|PMID:30455330|PMID:30487145|PMID:30663027|PMID:30814848|PMID:31109344|PMID:31264968|PMID:31333579|PMID:31363388|PMID:31365591|PMID:31385057|PMID:31483937|PMID:31485449|PMID:31517624|PMID:31566143|PMID:31576961|PMID:31604004|PMID:31638168|PMID:31673528|PMID:31675503|PMID:31754975|PMID:31844173|PMID:31968565|PMID:31968686|PMID:32017842|PMID:32041611|PMID:32238361|PMID:32375679|PMID:32395877|PMID:32581083|PMID:32684311|PMID:32741144|PMID:32910913|PMID:32928877|PMID:33046911|PMID:33363396|PMID:33459938|PMID:33477506|PMID:33538814|PMID:33651556|PMID:33889819|PMID:33950347|PMID:34373539|PMID:34440499|PMID:34458657|PMID:34462253|PMID:34496959|PMID:34668636|PMID:34741762|PMID:34803393|PMID:35218126|PMID:35299962|PMID:35328643|PMID:35535697|PMID:35673428|PMID:36257325|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9075819|PMID:9097962|PMID:9112026|PMID:9133564|PMID:9166684|PMID:9287053|PMID:9313763|PMID:9313764|PMID:9392505|PMID:9439666|PMID:9536098|PMID:9562352|PMID:9604876|PMID:9626139|PMID:9727913|PMID:9754819 11966187 HNF1A HNF1 homeobox A gene DOID:0111366 familial hepatic adenoma ISO RGD:737153 D RGD:7240710 20180130 OMIM 11966187 HNF1A HNF1 homeobox A gene DOID:0111366 familial hepatic adenoma ISO RGD:737153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatic adenomas, familial PMID:10333057|PMID:10447526|PMID:10754480|PMID:11058894|PMID:11315851|PMID:12050210|PMID:12355088|PMID:12530534|PMID:12574234|PMID:12618559|PMID:14747304|PMID:15649945|PMID:15928245|PMID:17054605|PMID:17407387|PMID:17440016|PMID:17573900|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18672310|PMID:21051477|PMID:21628466|PMID:23348805|PMID:23551881|PMID:23607861|PMID:25174781|PMID:25555642|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28862987|PMID:29417725|PMID:30814848|PMID:32741144|PMID:34373539|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9166684|PMID:9313763|PMID:9439666 11966187 HNF1A HNF1 homeobox A gene DOID:10603 glucose intolerance susceptibility ISO RGD:737153 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A98V PMID:15277395|REF_RGD_ID:1601481 11966187 HNF1A HNF1 homeobox A gene DOID:11714 gestational diabetes ISO RGD:737153 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gestational diabetes PMID:35299962|PMID:9562352 11966187 HNF1A HNF1 homeobox A gene DOID:13619 extrahepatic cholestasis ISO RGD:3828 D RGD:9068941 20200609 RGD mRNA,protein,DNA:decreased expression, decreased binding, decreased expression:liver, nuclear (rat) PMID:15723437|REF_RGD_ID:14700989 11966187 HNF1A HNF1 homeobox A gene DOID:2394 ovarian cancer ISO RGD:737153 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:10333057|PMID:10588527|PMID:10634407|PMID:11289470|PMID:12359128|PMID:12574234|PMID:12618559|PMID:12675668|PMID:15277395|PMID:15761192|PMID:15928245|PMID:16046319|PMID:16186275|PMID:16917892|PMID:16963153|PMID:17033837|PMID:17116178|PMID:17192490|PMID:17425917|PMID:17440016|PMID:17496355|PMID:17573900|PMID:17601994|PMID:17700391|PMID:17924661|PMID:17937063|PMID:18332101|PMID:18414213|PMID:18513305|PMID:23348805|PMID:24728327|PMID:25575005|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29895593|PMID:31109344|PMID:32238361|PMID:35328643|PMID:8945470|PMID:9112026|PMID:9133564|PMID:9287053 11966187 HNF1A HNF1 homeobox A gene DOID:3459 breast carcinoma ISO RGD:737153 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:11938027|PMID:24033266|PMID:24728327|PMID:25741868|PMID:25887915|PMID:28492532|PMID:29334895 11966187 HNF1A HNF1 homeobox A gene DOID:4195 hyperglycemia ISO RGD:737153 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29753610 11966187 HNF1A HNF1 homeobox A gene DOID:4450 renal cell carcinoma ISO RGD:737153 D RGD:7240710 20180130 OMIM 11966187 HNF1A HNF1 homeobox A gene DOID:4467 clear cell renal cell carcinoma ISO RGD:737153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:10333057|PMID:10447526|PMID:10754480|PMID:10966642|PMID:11058894|PMID:11315851|PMID:11393552|PMID:12050210|PMID:12355088|PMID:12530534|PMID:12574234|PMID:12618559|PMID:14747304|PMID:15649945|PMID:15928245|PMID:17054605|PMID:17407387|PMID:17440016|PMID:17573900|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18672310|PMID:19169489|PMID:19929997|PMID:21051477|PMID:21628466|PMID:21696527|PMID:22348187|PMID:22432108|PMID:23348805|PMID:23551881|PMID:23607861|PMID:24097065|PMID:25174781|PMID:25555642|PMID:25741868|PMID:26059258|PMID:26431509|PMID:26467025|PMID:27148439|PMID:28395978|PMID:28492532|PMID:28862987|PMID:29417725|PMID:30814848|PMID:31365591|PMID:31576961|PMID:31638168|PMID:32741144|PMID:34373539|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9166684|PMID:9313763|PMID:9392505|PMID:9439666|PMID:9754819 11966187 HNF1A HNF1 homeobox A gene DOID:4471 chromophobe renal cell carcinoma ISO RGD:737153 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromophobe renal cell carcinoma PMID:10966642|PMID:11393552|PMID:15649945|PMID:17573900|PMID:19169489|PMID:19929997|PMID:21696527|PMID:22348187|PMID:22432108|PMID:24097065|PMID:25741868|PMID:26059258|PMID:26431509|PMID:26467025|PMID:27148439|PMID:28395978|PMID:28492532|PMID:31365591|PMID:31576961|PMID:31638168|PMID:9392505|PMID:9754819 11966187 HNF1A HNF1 homeobox A gene DOID:5524 adenoid squamous cell carcinoma ISO RGD:11397 D RGD:9068941 20211231 RGD PMID:10489374|REF_RGD_ID:150540314 11966187 HNF1A HNF1 homeobox A gene DOID:557 kidney disease ISO RGD:3828 D RGD:9068941 20200609 RGD associated with Hypertension PMID:18443232|REF_RGD_ID:2301829 11966187 HNF1A HNF1 homeobox A gene DOID:684 hepatocellular carcinoma treatment ISO RGD:11397 D RGD:9068941 20200609 RGD human cell line in mouse model PMID:29466992|REF_RGD_ID:14700664 11966187 HNF1A HNF1 homeobox A gene DOID:684 hepatocellular carcinoma treatment ISO RGD:3828 D RGD:9068941 20200609 RGD human cell line in mouse model PMID:29466992|REF_RGD_ID:14700664 11966187 HNF1A HNF1 homeobox A gene DOID:684 hepatocellular carcinoma treatment ISO RGD:737153 D RGD:9068941 20200609 RGD human cell line in mouse model PMID:29466992|REF_RGD_ID:14700664 11966187 HNF1A HNF1 homeobox A gene DOID:9000149 Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive ISO RGD:737153 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive PMID:30561130 11966187 HNF1A HNF1 homeobox A gene DOID:9000528 Coronary Disease ISO RGD:737153 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 11966187 HNF1A HNF1 homeobox A gene DOID:9002605 Delayed Hypersensitivity ISO RGD:737153 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Reduced delayed hypersensitivity PMID:11938027|PMID:24033266|PMID:24728327|PMID:25741868|PMID:25887915|PMID:28492532|PMID:29334895 11966187 HNF1A HNF1 homeobox A gene DOID:9005369 Hepatomegaly ISO RGD:11397 D RGD:9068941 20200609 RGD PMID:28394260|REF_RGD_ID:14700773 11966187 HNF1A HNF1 homeobox A gene DOID:9005369 Hepatomegaly ISO RGD:3828 D RGD:9068941 20200609 RGD PMID:28394260|REF_RGD_ID:14700773 11966187 HNF1A HNF1 homeobox A gene DOID:9005369 Hepatomegaly ISO RGD:737153 D RGD:9068941 20200609 RGD PMID:28394260|REF_RGD_ID:14700773 11966187 HNF1A HNF1 homeobox A gene DOID:9007692 Insulin Resistance ISO RGD:737153 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF PMID:10333057|PMID:10588527|PMID:10634407|PMID:10852449|PMID:12627330|PMID:12675668|PMID:12788852|PMID:15031772|PMID:15761192|PMID:15928245|PMID:16963153|PMID:17033837|PMID:17192490|PMID:17407072|PMID:17425917|PMID:17440016|PMID:17573900|PMID:17937063|PMID:18332101|PMID:18498634|PMID:18811724|PMID:20031592|PMID:24728327|PMID:24933231|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31109344|PMID:35328643|PMID:8945470|PMID:9112026|PMID:9287053|PMID:9604876 11966187 HNF1A HNF1 homeobox A gene DOID:9008691 Liver Injury susceptibility ISO RGD:11397 D RGD:9068941 20200609 RGD protein:decreased expression:liver (mouse) PMID:26857093|REF_RGD_ID:14700772 11966187 HNF1A HNF1 homeobox A gene DOID:9008691 Liver Injury susceptibility ISO RGD:3828 D RGD:9068941 20200609 RGD protein:decreased expression:liver (mouse) PMID:26857093|REF_RGD_ID:14700772 11966187 HNF1A HNF1 homeobox A gene DOID:9008691 Liver Injury susceptibility ISO RGD:737153 D RGD:9068941 20200609 RGD protein:decreased expression:liver (mouse) PMID:26857093|REF_RGD_ID:14700772 11966187 HNF1A HNF1 homeobox A gene DOID:9256 colorectal cancer ISO RGD:737153 D RGD:9068941 20211231 RGD RNA:increased expression:colon (human) PMID:27433921|REF_RGD_ID:150540315 11966187 HNF1A HNF1 homeobox A gene DOID:9256 colorectal cancer treatment ISO RGD:737153 D RGD:9068941 20211231 RGD DNA:SNPs:multiple (human) PMID:29066969|REF_RGD_ID:150540313 11966187 HNF1A HNF1 homeobox A gene DOID:9281 phenylketonuria ISO RGD:11397 D RGD:9068941 20220825 MouseDO OMIM:261600 11966187 HNF1A HNF1 homeobox A gene DOID:9351 diabetes mellitus ISO RGD:737153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:10027594|PMID:10078571|PMID:10102714|PMID:10333057|PMID:10447526|PMID:10482964|PMID:10585442|PMID:10588527|PMID:10634407|PMID:10754480|PMID:10966642|PMID:11058894|PMID:11162430|PMID:11272211|PMID:11289470|PMID:11296231|PMID:11315828|PMID:11315851|PMID:11393552|PMID:11463573|PMID:11668618|PMID:11692182|PMID:11719843|PMID:11938027|PMID:11978663|PMID:12050210|PMID:12107757|PMID:12355088|PMID:12359128|PMID:12442280|PMID:12453420|PMID:12453976|PMID:12488961|PMID:12488962|PMID:12530534|PMID:12547858|PMID:12574234|PMID:12618559|PMID:12627330|PMID:12646418|PMID:12675668|PMID:14747304|PMID:15031772|PMID:15114102|PMID:15277395|PMID:15305805|PMID:15522234|PMID:15649945|PMID:15657605|PMID:15726414|PMID:15761192|PMID:15841481|PMID:15928245|PMID:16046319|PMID:16186275|PMID:16199547|PMID:16223942|PMID:16249556|PMID:16274290|PMID:16496320|PMID:16562587|PMID:16917892|PMID:16930618|PMID:16963153|PMID:17033837|PMID:17054605|PMID:17116178|PMID:17192490|PMID:17407387|PMID:17425917|PMID:17440016|PMID:17496355|PMID:17573900|PMID:17601994|PMID:17700391|PMID:17924661|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18332101|PMID:18414213|PMID:18513302|PMID:18513305|PMID:18672310|PMID:18811724|PMID:18838325|PMID:19150152|PMID:19169489|PMID:19336507|PMID:19339519|PMID:19754856|PMID:1985954|PMID:19929997|PMID:20132997|PMID:20393147|PMID:20705777|PMID:20981092|PMID:21051477|PMID:21168233|PMID:21170474|PMID:21224407|PMID:21395678|PMID:21518407|PMID:21628466|PMID:21648289|PMID:21683639|PMID:21696527|PMID:21823540|PMID:22060211|PMID:22341299|PMID:22348187|PMID:22413961|PMID:22432108|PMID:22432796|PMID:22802087|PMID:22808921|PMID:23139355|PMID:23274891|PMID:23348805|PMID:23517481|PMID:23548576|PMID:23551881|PMID:23607861|PMID:23610083|PMID:23624530|PMID:23674172|PMID:23771925|PMID:23803251|PMID:24014008|PMID:24033266|PMID:24041679|PMID:24069322|PMID:24097065|PMID:24323243|PMID:24728327|PMID:24915262|PMID:25174781|PMID:25306193|PMID:25414397|PMID:25483937|PMID:25525159|PMID:25555642|PMID:25575005|PMID:25741868|PMID:25887915|PMID:25935773|PMID:26059258|PMID:26110317|PMID:26287533|PMID:26431509|PMID:26446475|PMID:26467025|PMID:26479152|PMID:26817999|PMID:26853433|PMID:26997508|PMID:27083284|PMID:27148439|PMID:27229139|PMID:27271189|PMID:27398945|PMID:27458973|PMID:27486234|PMID:27899486|PMID:27913849|PMID:28012402|PMID:28105082|PMID:28170077|PMID:28395978|PMID:28410371|PMID:28492532|PMID:28597946|PMID:28701371|PMID:28862987|PMID:28938416|PMID:29179779|PMID:29207974|PMID:29334895|PMID:29376044|PMID:29417725|PMID:29439679|PMID:29493090|PMID:29666556|PMID:29758564|PMID:29777474|PMID:29844095|PMID:29895593|PMID:29927023|PMID:30121369|PMID:30155490|PMID:30181854|PMID:30191644|PMID:30293189|PMID:30455330|PMID:30487145|PMID:30507613|PMID:30561130|PMID:30663027|PMID:30814848|PMID:31109344|PMID:31166087|PMID:31264968|PMID:31363388|PMID:31365591|PMID:31385057|PMID:31483937|PMID:31517624|PMID:31566143|PMID:31576961|PMID:31604004|PMID:31638168|PMID:31658956|PMID:31675503|PMID:31754975|PMID:31844173|PMID:31968565|PMID:31968686|PMID:32041611|PMID:32238361|PMID:32395877|PMID:32684311|PMID:32741144|PMID:32910913|PMID:33046911|PMID:33363396|PMID:33459938|PMID:33477506|PMID:33538814|PMID:33651556|PMID:33889819|PMID:33950347|PMID:34035238|PMID:34373539|PMID:34440499|PMID:34458657|PMID:34462253|PMID:34496959|PMID:34741762|PMID:35328643|PMID:35673428|PMID:36257325|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9075819|PMID:9097962|PMID:9112026|PMID:9133564|PMID:9166684|PMID:9287053|PMID:9313763|PMID:9313764|PMID:9392505|PMID:9439666|PMID:9604876|PMID:9727913|PMID:9754819|PMID:9867222 11966187 HNF1A HNF1 homeobox A gene DOID:9352 type 2 diabetes mellitus ISO RGD:737153 D RGD:7240710 20180130 OMIM 11966187 HNF1A HNF1 homeobox A gene DOID:9352 type 2 diabetes mellitus ISO RGD:737153 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Insulin-resistant diabetes mellitus | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10084598|PMID:10333057|PMID:10588527|PMID:10634407|PMID:10843190|PMID:10852449|PMID:11058894|PMID:11904371|PMID:11942313|PMID:12355088|PMID:12359128|PMID:12574234|PMID:12627330|PMID:12675668|PMID:12788852|PMID:12832318|PMID:15031772|PMID:15657605|PMID:15761192|PMID:15883474|PMID:15928245|PMID:16917892|PMID:16963153|PMID:17033837|PMID:17062882|PMID:17192490|PMID:17220065|PMID:17407072|PMID:17425917|PMID:17440016|PMID:17573900|PMID:17937063|PMID:18003757|PMID:18332101|PMID:18414213|PMID:18439552|PMID:18498634|PMID:18811724|PMID:19672314|PMID:19754856|PMID:20031592|PMID:20393147|PMID:20690076|PMID:20705777|PMID:21170474|PMID:21761282|PMID:23139355|PMID:23274891|PMID:23348805|PMID:23607861|PMID:24033266|PMID:24097065|PMID:24728327|PMID:24915262|PMID:24933231|PMID:25057215|PMID:25555642|PMID:25741868|PMID:26059258|PMID:26431509|PMID:26467025|PMID:26981542|PMID:27035118|PMID:27458973|PMID:27899486|PMID:28105082|PMID:28492532|PMID:29207974|PMID:29376044|PMID:29758564|PMID:29844095|PMID:30155490|PMID:30202817|PMID:31109344|PMID:31264968|PMID:31385057|PMID:31485449|PMID:31566143|PMID:31673528|PMID:31844173|PMID:31968565|PMID:32910913|PMID:32928877|PMID:33477506|PMID:33651556|PMID:34668636|PMID:34803393|PMID:35218126|PMID:35328643|PMID:8945470|PMID:9112026|PMID:9133564|PMID:9287053|PMID:9313764|PMID:9604876|PMID:9867222 11966187 HNF1A HNF1 homeobox A gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:737153 D RGD:9068941 20200609 RGD DNA:nonsense mutations, missense mutations: :multiple PMID:18003757|REF_RGD_ID:2301827 11966187 HNF1A HNF1 homeobox A gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737153 D RGD:9068941 20200609 RGD DNA:SNP::rs1169288 associated with future risk of developing T2DM (p=0.0002) in individuals from the Botnia study in Finland and the Malmo project in Sweden PMID:18332101|REF_RGD_ID:2301863 11966187 HNF1A HNF1 homeobox A gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737153 D RGD:9068941 20200609 RGD Maturity-onset diabetes of the young type III, OMIM:600496;DNA:insertions, deletions, point mutations: :multiple PMID:8945470|REF_RGD_ID:1601479 11966187 HNF1A HNF1 homeobox A gene DOID:9744 type 1 diabetes mellitus ISO RGD:737153 D RGD:7240710 20180130 OMIM 11966187 HNF1A HNF1 homeobox A gene DOID:9744 type 1 diabetes mellitus ISO RGD:737153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 1 PMID:10333057|PMID:10447526|PMID:10585442|PMID:10588527|PMID:10690959|PMID:10754480|PMID:10966642|PMID:11058894|PMID:11296231|PMID:11315828|PMID:11315851|PMID:11393552|PMID:11719843|PMID:11938027|PMID:11942313|PMID:12050210|PMID:12355088|PMID:12359128|PMID:12453420|PMID:12488961|PMID:12530534|PMID:12574234|PMID:12618559|PMID:12627330|PMID:12832318|PMID:14747304|PMID:15649945|PMID:15657605|PMID:15883474|PMID:15928245|PMID:16274290|PMID:16562587|PMID:16917892|PMID:17054605|PMID:17407387|PMID:17440016|PMID:17573900|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18672310|PMID:18838325|PMID:19169489|PMID:19754856|PMID:19929997|PMID:20393147|PMID:21051477|PMID:21168233|PMID:21170474|PMID:21224407|PMID:21628466|PMID:21696527|PMID:21761282|PMID:21823540|PMID:22348187|PMID:22432108|PMID:23139355|PMID:23274891|PMID:23348805|PMID:23517481|PMID:23551881|PMID:23607861|PMID:23771925|PMID:23869231|PMID:24033266|PMID:24097065|PMID:24728327|PMID:24915262|PMID:25174781|PMID:25414397|PMID:25483937|PMID:25555642|PMID:25741868|PMID:25887915|PMID:26059258|PMID:26431509|PMID:26467025|PMID:27083284|PMID:27148439|PMID:27271189|PMID:27899486|PMID:27913849|PMID:28395978|PMID:28410371|PMID:28492532|PMID:28701371|PMID:28862987|PMID:28938416|PMID:29207974|PMID:29334895|PMID:29417725|PMID:29439679|PMID:29666556|PMID:29758564|PMID:29927023|PMID:30155490|PMID:30202817|PMID:30293189|PMID:30455330|PMID:30814848|PMID:31264968|PMID:31363388|PMID:31365591|PMID:31485449|PMID:31517624|PMID:31576961|PMID:31638168|PMID:32041611|PMID:32238361|PMID:32395877|PMID:32741144|PMID:32910913|PMID:33046911|PMID:33477506|PMID:34161864|PMID:34373539|PMID:34496959|PMID:34741762|PMID:35218126|PMID:35328643|PMID:35673428|PMID:36257325|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9075819|PMID:9112026|PMID:9166684|PMID:9313763|PMID:9313764|PMID:9392505|PMID:9439666|PMID:9727913|PMID:9754819 11966187 HNF1A HNF1 homeobox A gene DOID:9993 hypoglycemia ISO RGD:737153 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15787664 11966207 SLC25A14 solute carrier family 25 member 14 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11966207 SLC25A14 solute carrier family 25 member 14 gene DOID:12849 autistic disorder ISO RGD:736693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11966236 SLC26A3 solute carrier family 26 member 3 gene DOID:0060296 congenital secretory chloride diarrhea 1 ISO RGD:1346275 D RGD:7240710 20180130 OMIM 11966236 SLC26A3 solute carrier family 26 member 3 gene DOID:0060296 congenital secretory chloride diarrhea 1 ISO RGD:1346275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE | ClinVar Annotator: match by term: Congenital chloride diarrhea | ClinVar Annotator: match by term: Darrow-Gamble disease PMID:10671059|PMID:10881594|PMID:11302976|PMID:11524734|PMID:12411484|PMID:12442266|PMID:16199547|PMID:18216024|PMID:18728535|PMID:18847625|PMID:19861545|PMID:21127979|PMID:21150650|PMID:21332001|PMID:21394828|PMID:21853658|PMID:22779076|PMID:23274434|PMID:23361499|PMID:23756661|PMID:24033266|PMID:24350656|PMID:25568271|PMID:25711268|PMID:25741868|PMID:27525615|PMID:28422190|PMID:28492532|PMID:28644346|PMID:29086717|PMID:30775050|PMID:31325522|PMID:31680349|PMID:8896562|PMID:9554749|PMID:9718329 11966236 SLC26A3 solute carrier family 26 member 3 gene DOID:13250 diarrhea ISO RGD:1346275 D RGD:9068941 20200609 RGD DNA:frameshift mutation, missense mutations PMID:8896562|REF_RGD_ID:1600011 11966236 SLC26A3 solute carrier family 26 member 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11966236 SLC26A3 solute carrier family 26 member 3 gene DOID:630 genetic disease ISO RGD:1346275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11966236 SLC26A3 solute carrier family 26 member 3 gene DOID:8437 intestinal obstruction ISO RGD:1346275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intestinal obstruction PMID:21394828|PMID:25741868|PMID:31680349|PMID:9718329 11966236 SLC26A3 solute carrier family 26 member 3 gene DOID:8488 polyhydramnios ISO RGD:1346275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyhydramnios PMID:21394828|PMID:25741868|PMID:31680349|PMID:9718329 11966236 SLC26A3 solute carrier family 26 member 3 gene DOID:8577 ulcerative colitis ISO RGD:1346275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19915573 11966236 SLC26A3 solute carrier family 26 member 3 gene DOID:9002135 Congenital Infantile Lactic Acidosis due to LAD Deficiency ISO RGD:1346275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to PMID:28492532|PMID:8968745|PMID:9934985 11966236 SLC26A3 solute carrier family 26 member 3 gene DOID:9008386 Hydrops Fetalis ISO RGD:1346275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrops fetalis PMID:21394828|PMID:25741868|PMID:31680349|PMID:9718329 11966261 TEX46 testis expressed 46 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:7256452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11966293 USP5 ubiquitin specific peptidase 5 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1318206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11966293 USP5 ubiquitin specific peptidase 5 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1318206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11966293 USP5 ubiquitin specific peptidase 5 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1318206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11966293 USP5 ubiquitin specific peptidase 5 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1318206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11966293 USP5 ubiquitin specific peptidase 5 gene DOID:0111621 Temtamy syndrome ISO RGD:1318206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11966293 USP5 ubiquitin specific peptidase 5 gene DOID:630 genetic disease ISO RGD:1318206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11966293 USP5 ubiquitin specific peptidase 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1318206 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11966293 USP5 ubiquitin specific peptidase 5 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1318206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11966319 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:0060041 autism spectrum disorder ISO RGD:733097 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11966319 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:0060178 familial hemiplegic migraine ISO RGD:733097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 11966319 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:733097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) PMID:28492532 11966319 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:733097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11966319 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:10327 anthracosis ISO RGD:733097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394417 11966319 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:1540 parathyroid carcinoma ISO RGD:733097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11966319 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:630 genetic disease ISO RGD:733097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11966319 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11966349 LOC100970614 putative uncharacterized protein LINC02898 gene DOID:3883 Lynch syndrome ISO RGD:5688543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11966349 LOC100970614 putative uncharacterized protein LINC02898 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:5688543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11966357 ZCCHC9 zinc finger CCHC-type containing 9 gene DOID:630 genetic disease ISO RGD:1316648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11966357 ZCCHC9 zinc finger CCHC-type containing 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11966381 JRKL JRK like gene DOID:1059 intellectual disability ISO RGD:1319078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11966381 JRKL JRK like gene DOID:12704 ataxia telangiectasia ISO RGD:1319078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11966381 JRKL JRK like gene DOID:630 genetic disease ISO RGD:1319078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11966387 PRSS35 serine protease 35 gene DOID:0111953 immunodeficiency 23 ISO RGD:1322654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 23 PMID:24931394 11966387 PRSS35 serine protease 35 gene DOID:630 genetic disease ISO RGD:1322654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11966387 PRSS35 serine protease 35 gene DOID:9005369 Hepatomegaly ISO RGD:1322654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 11966394 EMCN endomucin gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:1602001 D RGD:9068941 20220310 RGD PMID:32626543|REF_RGD_ID:151665104 11966394 EMCN endomucin gene DOID:630 genetic disease ISO RGD:1602001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11966415 LDHD lactate dehydrogenase D gene DOID:2565 macular corneal dystrophy ISO RGD:1317689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 11966415 LDHD lactate dehydrogenase D gene DOID:607 paraplegia ISO RGD:1317689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11966415 LDHD lactate dehydrogenase D gene DOID:630 genetic disease ISO RGD:1317689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11966415 LDHD lactate dehydrogenase D gene DOID:9000653 Lactic Aciduria due to D-Lactic Acid ISO RGD:1317689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lactic aciduria due to D-lactic acid PMID:25741868|PMID:30931947|PMID:31638601 11966415 LDHD lactate dehydrogenase D gene DOID:9000653 Lactic Aciduria due to D-Lactic Acid susceptibility ISO RGD:1317689 D RGD:7240710 20200520 OMIM 11966435 MICOS10 mitochondrial contact site and cristae organizing system subunit 10 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1603802 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11966435 MICOS10 mitochondrial contact site and cristae organizing system subunit 10 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603802 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11966435 MICOS10 mitochondrial contact site and cristae organizing system subunit 10 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1603802 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11966435 MICOS10 mitochondrial contact site and cristae organizing system subunit 10 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1603802 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11966435 MICOS10 mitochondrial contact site and cristae organizing system subunit 10 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1603802 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11966443 CLDN5 claudin 5 gene DOID:0060041 autism spectrum disorder ISO RGD:68644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11966443 CLDN5 claudin 5 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:68644 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 11966443 CLDN5 claudin 5 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:68644 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 11966443 CLDN5 claudin 5 gene DOID:0060496 respiratory allergy ISO RGD:68644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30608172 11966443 CLDN5 claudin 5 gene DOID:0111996 immunodeficiency 51 ISO RGD:68644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11966443 CLDN5 claudin 5 gene DOID:1059 intellectual disability ISO RGD:68644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11966443 CLDN5 claudin 5 gene DOID:11198 DiGeorge syndrome ISO RGD:68644 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 11966443 CLDN5 claudin 5 gene DOID:11372 megacolon ISO RGD:68644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11966443 CLDN5 claudin 5 gene DOID:12583 velocardiofacial syndrome ISO RGD:68644 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 11966443 CLDN5 claudin 5 gene DOID:12849 autistic disorder ISO RGD:68644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11966443 CLDN5 claudin 5 gene DOID:1790 malignant mesothelioma ISO RGD:68644 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:28377727 11966443 CLDN5 claudin 5 gene DOID:1826 epilepsy ISO RGD:68644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11966443 CLDN5 claudin 5 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:68431 D RGD:9068941 20200609 RGD PMID:24842554|REF_RGD_ID:13204729 11966443 CLDN5 claudin 5 gene DOID:5419 schizophrenia ISO RGD:68644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11966443 CLDN5 claudin 5 gene DOID:612 primary immunodeficiency disease ISO RGD:68644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11966443 CLDN5 claudin 5 gene DOID:630 genetic disease ISO RGD:68644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11966443 CLDN5 claudin 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11966443 CLDN5 claudin 5 gene DOID:9007661 Dwarfism ISO RGD:68644 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11966443 CLDN5 claudin 5 gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:68431 D RGD:9068941 20200609 RGD protein:decreased expression:colon: PMID:19929946|REF_RGD_ID:2325127 11966443 CLDN5 claudin 5 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:68644 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11966453 HEG1 heart development protein with EGF like domains 1 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1603204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 11966453 HEG1 heart development protein with EGF like domains 1 gene DOID:630 genetic disease ISO RGD:1603204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11966453 HEG1 heart development protein with EGF like domains 1 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1603204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 11966453 HEG1 heart development protein with EGF like domains 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1603204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 11966453 HEG1 heart development protein with EGF like domains 1 gene DOID:9270 alkaptonuria ISO RGD:1603204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11966475 PNKD PNKD metallo-beta-lactamase domain containing gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1346850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11966475 PNKD PNKD metallo-beta-lactamase domain containing gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1346850 D RGD:7240710 20180130 OMIM 11966475 PNKD PNKD metallo-beta-lactamase domain containing gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1346850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia | ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia 1 PMID:10612827|PMID:15262732|PMID:15496428|PMID:15824259|PMID:16199547|PMID:16216955|PMID:16632198|PMID:17576681|PMID:19124534|PMID:20301400|PMID:21487022|PMID:22967746|PMID:24033266|PMID:25107857|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28893297|PMID:8659518|PMID:9490305|PMID:9536098 11966475 PNKD PNKD metallo-beta-lactamase domain containing gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1346850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11966475 PNKD PNKD metallo-beta-lactamase domain containing gene DOID:4450 renal cell carcinoma ISO RGD:1346850 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 11966475 PNKD PNKD metallo-beta-lactamase domain containing gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1346850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11966475 PNKD PNKD metallo-beta-lactamase domain containing gene DOID:543 dystonia ISO RGD:1346850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paroxysmal dystonia PMID:15262732|PMID:15496428|PMID:15824259|PMID:16216955|PMID:20301400|PMID:28492532|PMID:8659518|PMID:9490305 11966475 PNKD PNKD metallo-beta-lactamase domain containing gene DOID:630 genetic disease ISO RGD:1346850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11966475 PNKD PNKD metallo-beta-lactamase domain containing gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11966501 DNAJB7 DnaJ heat shock protein family (Hsp40) member B7 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1353448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11966501 DNAJB7 DnaJ heat shock protein family (Hsp40) member B7 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1353448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:15706485|PMID:24476420|PMID:28492532 11966501 DNAJB7 DnaJ heat shock protein family (Hsp40) member B7 gene DOID:557 kidney disease ISO RGD:1353448 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases PMID:25741868 11966501 DNAJB7 DnaJ heat shock protein family (Hsp40) member B7 gene DOID:630 genetic disease ISO RGD:1353448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11966506 PGBD1 piggyBac transposable element derived 1 gene DOID:11372 megacolon ISO RGD:1352422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11966506 PGBD1 piggyBac transposable element derived 1 gene DOID:5419 schizophrenia ISO RGD:1352422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22037552 11966506 PGBD1 piggyBac transposable element derived 1 gene DOID:630 genetic disease ISO RGD:1352422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11966519 ATAD1 ATPase family AAA domain containing 1 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1318420 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 11966519 ATAD1 ATPase family AAA domain containing 1 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1318420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 11966519 ATAD1 ATPase family AAA domain containing 1 gene DOID:0080581 hyperekplexia 4 ISO RGD:1318420 D RGD:7240710 20190315 OMIM 11966519 ATAD1 ATPase family AAA domain containing 1 gene DOID:0080581 hyperekplexia 4 ISO RGD:1318420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperekplexia 4 PMID:25741868|PMID:28180185|PMID:28492532|PMID:29390050|PMID:29659736|PMID:33134516 11966519 ATAD1 ATPase family AAA domain containing 1 gene DOID:630 genetic disease ISO RGD:1318420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11966541 ERO1B endoplasmic reticulum oxidoreductase 1 beta gene DOID:1540 parathyroid carcinoma ISO RGD:1344502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11966541 ERO1B endoplasmic reticulum oxidoreductase 1 beta gene DOID:630 genetic disease ISO RGD:1344502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11966541 ERO1B endoplasmic reticulum oxidoreductase 1 beta gene DOID:83 cataract ISO RGD:1344502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:33867527 11966541 ERO1B endoplasmic reticulum oxidoreductase 1 beta gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11966564 GPI glucose-6-phosphate isomerase gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1344852 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11966564 GPI glucose-6-phosphate isomerase gene DOID:1059 intellectual disability ISO RGD:1344852 D RGD:9068941 20200609 RGD Severe GPI deficiency with neurologic deficits DNA:point_mutations:CDS:compound heterozygote for 59A>C (amino acid H20P), and 1016T>C (amino acid L339P) PMID:9856489|REF_RGD_ID:1600632 11966564 GPI glucose-6-phosphate isomerase gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:10680 D RGD:9068941 20200609 RGD PMID:8417789|REF_RGD_ID:11051955 11966564 GPI glucose-6-phosphate isomerase gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:10680 D RGD:9068941 20220825 MouseDO OMIM:206300 | OMIM:206400 | OMIM:300908 | OMIM:613470 11966564 GPI glucose-6-phosphate isomerase gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:1344852 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:9446754|REF_RGD_ID:11051849 11966564 GPI glucose-6-phosphate isomerase gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:1344852 D RGD:9068941 20200609 RGD DNA:point_mutation:CDS:1648A>G amino acid K550E PMID:17041899|REF_RGD_ID:1600633 11966564 GPI glucose-6-phosphate isomerase gene DOID:3910 lung adenocarcinoma ISO RGD:10680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11966564 GPI glucose-6-phosphate isomerase gene DOID:440 neuromuscular disease ISO RGD:1344852 D RGD:9068941 20200609 RGD Severe GPI deficiency with neurologic deficits DNA:point_mutations:CDS:compound heterozygote for 59A>C (amino acid H20P), and 1016T>C (amino acid L339P) PMID:9856489|REF_RGD_ID:1600632 11966564 GPI glucose-6-phosphate isomerase gene DOID:583 hemolytic anemia ISO RGD:1344852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemolytic anemia PMID:32581362 11966564 GPI glucose-6-phosphate isomerase gene DOID:589 congenital hemolytic anemia ISO RGD:1344852 D RGD:9068941 20200609 RGD DNA:point_mutations:CDS:compound heterozygote for amino acids G158S and R346H PMID:8499925|REF_RGD_ID:1600631 11966564 GPI glucose-6-phosphate isomerase gene DOID:589 congenital hemolytic anemia ISO RGD:1344852 D RGD:9068941 20200609 RGD Severe GPI deficiency with neurologic deficits DNA:point_mutations:CDS:compound heterozygote for 59A>C (amino acid H20P), and 1016T>C (amino acid L339P) PMID:9856489|REF_RGD_ID:1600632 11966564 GPI glucose-6-phosphate isomerase gene DOID:630 genetic disease ISO RGD:1344852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19064002|PMID:25741868|PMID:28492532|PMID:31133865|PMID:8499925 11966564 GPI glucose-6-phosphate isomerase gene DOID:9000965 Neoplasm Metastasis ISO RGD:10680 D RGD:9068941 20200609 RGD PMID:20978190|REF_RGD_ID:11051956 11966564 GPI glucose-6-phosphate isomerase gene DOID:9002457 Experimental Arthritis ISO RGD:1344852 D RGD:9068941 20200609 RGD PMID:23911657|REF_RGD_ID:11051957 11966564 GPI glucose-6-phosphate isomerase gene DOID:9005912 Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency ISO RGD:1344852 D RGD:7240710 20180130 OMIM 11966564 GPI glucose-6-phosphate isomerase gene DOID:9005912 Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency ISO RGD:1344852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hemolytic anemia, nonspherocytic, and neurologic deficits, due to glucose phosphate isomerase deficiency | ClinVar Annotator: match by term: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency PMID:10916680|PMID:19064002|PMID:24033266|PMID:25741868|PMID:26509025|PMID:27519939|PMID:28492532|PMID:30585945|PMID:31133865|PMID:32581362|PMID:4076245|PMID:7989588|PMID:8499925|PMID:8822952|PMID:8822954|PMID:9616041|PMID:9856489 11966564 GPI glucose-6-phosphate isomerase gene DOID:9006205 Animal Disease Models ISO RGD:10680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11966564 GPI glucose-6-phosphate isomerase gene DOID:9008939 Breast Neoplasms ISO RGD:1344852 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 11966564 GPI glucose-6-phosphate isomerase gene DOID:9119 acute myeloid leukemia ISO RGD:1344852 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:6589021|REF_RGD_ID:11051848 11966564 GPI glucose-6-phosphate isomerase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1344852 D RGD:9068941 20200609 RGD PMID:6589021|REF_RGD_ID:11051848 11966604 YKT6 YKT6 v-SNARE homolog gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11966604 YKT6 YKT6 v-SNARE homolog gene DOID:630 genetic disease ISO RGD:735770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11966614 MIEF1 mitochondrial elongation factor 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1604008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11966614 MIEF1 mitochondrial elongation factor 1 gene DOID:630 genetic disease ISO RGD:1604008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11966628 RELN reelin gene DOID:0050453 lissencephaly ISO RGD:735880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:23757202|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29671837 11966628 RELN reelin gene DOID:0060041 autism spectrum disorder ISO RGD:735880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24781735|PMID:28191889 11966628 RELN reelin gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:735880 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy with auditory features | ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:14515139|PMID:14593429|PMID:18414213|PMID:20697953|PMID:23287318|PMID:24467814|PMID:24828792|PMID:25620207|PMID:2564880|PMID:25648840|PMID:25741868|PMID:26467025|PMID:26544041|PMID:27064498|PMID:27884173|PMID:28419454|PMID:28492532|PMID:28677532|PMID:29358611|PMID:29969175|PMID:30891068|PMID:31875159|PMID:33004838 11966628 RELN reelin gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:735880 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:14515139|PMID:14593429|PMID:18414213|PMID:20697953|PMID:23287318|PMID:24467814|PMID:24828792|PMID:24848745|PMID:25620207|PMID:25648840|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28419454|PMID:28492532|PMID:28677532|PMID:29056246|PMID:29358611|PMID:29969175|PMID:30891068|PMID:33004838 11966628 RELN reelin gene DOID:0060751 familial temporal lobe epilepsy 7 ISO RGD:735880 D RGD:7240710 20180130 OMIM 11966628 RELN reelin gene DOID:0060751 familial temporal lobe epilepsy 7 ISO RGD:735880 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 7 PMID:14515139|PMID:14593429|PMID:20697953|PMID:24828792|PMID:25620207|PMID:25741868|PMID:26046367|PMID:26467025|PMID:27884173|PMID:28492532|PMID:29358611|PMID:32860008 11966628 RELN reelin gene DOID:0060902 Norman-Roberts syndrome ISO RGD:735880 D RGD:7240710 20180130 OMIM 11966628 RELN reelin gene DOID:0060902 Norman-Roberts syndrome ISO RGD:735880 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:10973257|PMID:11748497|PMID:14515139|PMID:14593429|PMID:16199547|PMID:16311013|PMID:16958033|PMID:17124408|PMID:17366345|PMID:17431900|PMID:17576681|PMID:17955477|PMID:18414213|PMID:19319887|PMID:19435634|PMID:20697953|PMID:21549172|PMID:23287318|PMID:23334996|PMID:23757202|PMID:24267886|PMID:24385848|PMID:24467814|PMID:24828792|PMID:24848745|PMID:25326637|PMID:25620207|PMID:25621899|PMID:25640679|PMID:25648840|PMID:25741868|PMID:26046367|PMID:26302956|PMID:26459092|PMID:26467025|PMID:26901136|PMID:27884173|PMID:28419454|PMID:28454995|PMID:28492532|PMID:28677532|PMID:28783747|PMID:29056246|PMID:29358611|PMID:29671837|PMID:29706646|PMID:29969175|PMID:30091983|PMID:30891068|PMID:31031587|PMID:31134136|PMID:31144778|PMID:31209962|PMID:32086284|PMID:33004838|PMID:33453592|PMID:33994118|PMID:34489640|PMID:7682675|PMID:9536098 11966628 RELN reelin gene DOID:1059 intellectual disability ISO RGD:735880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:14515139|PMID:24828792|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28677532|PMID:29969175 11966628 RELN reelin gene DOID:10652 Alzheimer's disease ISO RGD:735880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20610758 11966628 RELN reelin gene DOID:10652 Alzheimer's disease ISO RGD:735880 D RGD:9068941 20200609 RGD protein: increased expression: brain PMID:20025970|REF_RGD_ID:13207521 11966628 RELN reelin gene DOID:10652 Alzheimer's disease ISO RGD:735880 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:12645087|REF_RGD_ID:729771 11966628 RELN reelin gene DOID:12849 autistic disorder ISO RGD:735880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:24467814|PMID:25741868|PMID:28492532 11966628 RELN reelin gene DOID:12849 autistic disorder no_association ISO RGD:735880 D RGD:9068941 20200609 RGD increased GGC repeats PMID:15048647|REF_RGD_ID:13207520 11966628 RELN reelin gene DOID:12849 autistic disorder susceptibility ISO RGD:735880 D RGD:9068941 20200609 RGD DNA:repeat:promoter: (human) PMID:11317216|REF_RGD_ID:9743913 11966628 RELN reelin gene DOID:12849 autistic disorder susceptibility ISO RGD:735880 D RGD:9068941 20200609 RGD increased GGC repeats PMID:20436377|REF_RGD_ID:13207517 11966628 RELN reelin gene DOID:1324 lung cancer ISO RGD:735880 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 11966628 RELN reelin gene DOID:14250 Down syndrome ISO RGD:735880 D RGD:9068941 20200609 RGD protein: increased expression: brain PMID:20025970|REF_RGD_ID:13207521 11966628 RELN reelin gene DOID:1459 hypothyroidism ISO RGD:3553 D RGD:9068941 20200609 RGD protein:increased expression:layers of neocortex, hypothalamus (rat) PMID:10436054|REF_RGD_ID:634730 11966628 RELN reelin gene DOID:1470 major depressive disorder ISO RGD:735880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11126396 11966628 RELN reelin gene DOID:1596 depressive disorder ISO RGD:735880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 11966628 RELN reelin gene DOID:1824 status epilepticus ISO RGD:3553 D RGD:9068941 20200609 RGD protein:decreased expression:dentate gyrus (rat) PMID:17314278|REF_RGD_ID:2317783 11966628 RELN reelin gene DOID:1826 epilepsy ISO RGD:735880 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11966628 RELN reelin gene DOID:1826 epilepsy ISO RGD:735880 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 11966628 RELN reelin gene DOID:3312 bipolar disorder ISO RGD:735880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11126396|PMID:14708030|PMID:15560956 11966628 RELN reelin gene DOID:3312 bipolar disorder ISO RGD:735880 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus (human) PMID:11126396|REF_RGD_ID:2324681 11966628 RELN reelin gene DOID:3328 temporal lobe epilepsy ISO RGD:735880 D RGD:9068941 20200609 RGD protein: increased methylation: brain PMID:19287316|REF_RGD_ID:13207524 11966628 RELN reelin gene DOID:3328 temporal lobe epilepsy severity ISO RGD:735880 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus (human) PMID:12122039|REF_RGD_ID:2317926 11966628 RELN reelin gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:735880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:14515139|PMID:14593429|PMID:20697953|PMID:24828792|PMID:25620207|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532|PMID:29358611 11966628 RELN reelin gene DOID:3525 middle cerebral artery infarction severity ISO RGD:735881 D RGD:9068941 20200609 RGD PMID:16438965|REF_RGD_ID:13207538 11966628 RELN reelin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11966628 RELN reelin gene DOID:5082 liver cirrhosis ISO RGD:735880 D RGD:9068941 20200609 RGD protein:altered expression:plasma (human) PMID:18449964|REF_RGD_ID:2317777 11966628 RELN reelin gene DOID:5419 schizophrenia ISO RGD:735880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11966628 RELN reelin gene DOID:630 genetic disease ISO RGD:735880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10973257|PMID:11748497|PMID:14515139|PMID:16958033|PMID:17431900|PMID:17955477|PMID:24267886|PMID:24848745|PMID:25621899|PMID:25648840|PMID:25741868|PMID:26046367|PMID:26467025|PMID:28419454|PMID:28492532|PMID:28677532|PMID:29358611|PMID:29671837|PMID:29969175|PMID:33004838 11966628 RELN reelin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3553 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, plasma (rat) PMID:18449964|REF_RGD_ID:2317777 11966628 RELN reelin gene DOID:9004866 Ataxia ISO RGD:735881 D RGD:9068941 20200609 RGD PMID:7715726|REF_RGD_ID:2324615 11966628 RELN reelin gene DOID:9006255 Sacroiliac Arthritis ISO RGD:735880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthritis, sacroiliac 11966628 RELN reelin gene DOID:9006534 Nervous System Malformations ISO RGD:735880 D RGD:9068941 20200609 RGD mRNA:splicing errors:exon 36, exon 42:c.5705_5790del, c.6696_6844del (human) PMID:10973257|REF_RGD_ID:1358410 11966703 EGFL6 EGF like domain multiple 6 gene DOID:0050777 Joubert syndrome ISO RGD:1354247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:27081566|PMID:28492532 11966703 EGFL6 EGF like domain multiple 6 gene DOID:12849 autistic disorder ISO RGD:1354247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11966703 EGFL6 EGF like domain multiple 6 gene DOID:630 genetic disease ISO RGD:1354247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11966703 EGFL6 EGF like domain multiple 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11966721 MPPED1 metallophosphoesterase domain containing 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1317908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11966721 MPPED1 metallophosphoesterase domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1317908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11966721 MPPED1 metallophosphoesterase domain containing 1 gene DOID:630 genetic disease ISO RGD:1317908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11966735 SPCS3 signal peptidase complex subunit 3 gene DOID:630 genetic disease ISO RGD:1353202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11966735 SPCS3 signal peptidase complex subunit 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11966743 GADD45A growth arrest and DNA damage inducible alpha gene DOID:1059 intellectual disability ISO RGD:733803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11966743 GADD45A growth arrest and DNA damage inducible alpha gene DOID:1793 pancreatic cancer ISO RGD:733803 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19003803 11966743 GADD45A growth arrest and DNA damage inducible alpha gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:733803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 11966743 GADD45A growth arrest and DNA damage inducible alpha gene DOID:630 genetic disease ISO RGD:733803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11966743 GADD45A growth arrest and DNA damage inducible alpha gene DOID:676 juvenile rheumatoid arthritis ISO RGD:733803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11966743 GADD45A growth arrest and DNA damage inducible alpha gene DOID:9000217 Stomach Neoplasms ISO RGD:733803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15837757 11966743 GADD45A growth arrest and DNA damage inducible alpha gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:736689 D RGD:9068941 20200609 RGD PMID:19124556|REF_RGD_ID:5509080 11966743 GADD45A growth arrest and DNA damage inducible alpha gene DOID:9001341 Chloracne ISO RGD:733803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 11966743 GADD45A growth arrest and DNA damage inducible alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:733803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19190346 11966743 GADD45A growth arrest and DNA damage inducible alpha gene DOID:9002762 Ovarian Neoplasms ISO RGD:733803 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17474084 11966743 GADD45A growth arrest and DNA damage inducible alpha gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 11966743 GADD45A growth arrest and DNA damage inducible alpha gene DOID:9074 systemic lupus erythematosus ISO RGD:736689 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 11966751 TAAR6 trace amine-associated receptor 6 gene DOID:630 genetic disease ISO RGD:1348964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11966754 TRPC5 transient receptor potential cation channel subfamily C member 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11966754 TRPC5 transient receptor potential cation channel subfamily C member 5 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:733334 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:heart: PMID:16950785|REF_RGD_ID:10044019 11966754 TRPC5 transient receptor potential cation channel subfamily C member 5 gene DOID:1059 intellectual disability ISO RGD:733334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11966754 TRPC5 transient receptor potential cation channel subfamily C member 5 gene DOID:10763 hypertension ISO RGD:733334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17351372 11966754 TRPC5 transient receptor potential cation channel subfamily C member 5 gene DOID:12849 autistic disorder ISO RGD:733334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11966754 TRPC5 transient receptor potential cation channel subfamily C member 5 gene DOID:5419 schizophrenia ISO RGD:733334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11966754 TRPC5 transient receptor potential cation channel subfamily C member 5 gene DOID:630 genetic disease ISO RGD:733334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11966754 TRPC5 transient receptor potential cation channel subfamily C member 5 gene DOID:9001542 Albuminuria ISO RGD:733335 D RGD:9068941 20200609 RGD PMID:24231357|REF_RGD_ID:10043830 11966770 INSIG2 insulin induced gene 2 gene DOID:630 genetic disease ISO RGD:735428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11966770 INSIG2 insulin induced gene 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11966770 INSIG2 insulin induced gene 2 gene DOID:9004657 Weight Gain ISO RGD:735428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18195716|PMID:20373477 11966770 INSIG2 insulin induced gene 2 gene DOID:9006599 Hypertriglyceridemia severity ISO RGD:735429 D RGD:9068941 20200609 RGD associated with Obesity PMID:15096598|REF_RGD_ID:2308857 11966770 INSIG2 insulin induced gene 2 gene DOID:9452 fatty liver disease severity ISO RGD:735429 D RGD:9068941 20200609 RGD associated with Obesity PMID:15096598|REF_RGD_ID:2308857 11966786 GOT1 glutamic-oxaloacetic transaminase 1 gene DOID:0050700 cardiomyopathy ISO RGD:2721 D RGD:9068941 20200609 RGD mRNA:decreased expression:myocardium (rat) PMID:20733562|REF_RGD_ID:13504856 11966786 GOT1 glutamic-oxaloacetic transaminase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:10675 D RGD:9068941 20200609 RGD PMID:21361730|REF_RGD_ID:13504855 11966786 GOT1 glutamic-oxaloacetic transaminase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2721 D RGD:9068941 20200609 RGD PMID:20145654|REF_RGD_ID:13504854 11966786 GOT1 glutamic-oxaloacetic transaminase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:735827 D RGD:9068941 20200609 RGD human protein in a rat model PMID:24407245|REF_RGD_ID:13504852 11966786 GOT1 glutamic-oxaloacetic transaminase 1 gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:735827 D RGD:9068941 20200609 RGD human protein in a rat model PMID:26113413|REF_RGD_ID:13506239 11966786 GOT1 glutamic-oxaloacetic transaminase 1 gene DOID:3498 pancreatic ductal adenocarcinoma treatment ISO RGD:735827 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:23535601|REF_RGD_ID:13504844 11966786 GOT1 glutamic-oxaloacetic transaminase 1 gene DOID:630 genetic disease ISO RGD:735827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11966786 GOT1 glutamic-oxaloacetic transaminase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735827 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 11966786 GOT1 glutamic-oxaloacetic transaminase 1 gene DOID:9004610 Acute Lung Injury ISO RGD:2721 D RGD:9068941 20200609 RGD protein:decreased expression:lung (rat) PMID:25581610|REF_RGD_ID:13504847 11966786 GOT1 glutamic-oxaloacetic transaminase 1 gene DOID:9006008 Closed Head Injuries ISO RGD:735827 D RGD:9068941 20200609 RGD human protein in a rat model PMID:17014847|REF_RGD_ID:13504858 11966786 GOT1 glutamic-oxaloacetic transaminase 1 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:2721 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (rat) PMID:19823174|REF_RGD_ID:4145499 11966786 GOT1 glutamic-oxaloacetic transaminase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735827 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11966786 GOT1 glutamic-oxaloacetic transaminase 1 gene DOID:9007480 Hyperoxia ISO RGD:2721 D RGD:9068941 20200609 RGD protein:increased expression:brain (rat) PMID:20049628|REF_RGD_ID:13504857 11966786 GOT1 glutamic-oxaloacetic transaminase 1 gene DOID:9007956 Febrile Seizures ISO RGD:2721 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:24373994|REF_RGD_ID:13504853 11966786 GOT1 glutamic-oxaloacetic transaminase 1 gene DOID:9120 amyloidosis treatment ISO RGD:735827 D RGD:9068941 20200609 RGD human protein in a rat model PMID:28390893|REF_RGD_ID:13504835 11966799 ITGAM integrin subunit alpha M gene DOID:0060189 ileitis ISO RGD:1343608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10647630 11966799 ITGAM integrin subunit alpha M gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1343608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16764927 11966799 ITGAM integrin subunit alpha M gene DOID:0080162 lupus nephritis ISO RGD:1343608 D RGD:9068941 20200609 RGD PMID:21719445|REF_RGD_ID:5147916 11966799 ITGAM integrin subunit alpha M gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1343608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11966799 ITGAM integrin subunit alpha M gene DOID:10952 nephritis ISO RGD:732433 D RGD:9068941 20200609 RGD PMID:21900205|REF_RGD_ID:7207258 11966799 ITGAM integrin subunit alpha M gene DOID:2018 hyperinsulinism ISO RGD:1343608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 11966799 ITGAM integrin subunit alpha M gene DOID:2921 glomerulonephritis ISO RGD:732433 D RGD:9068941 20200609 RGD PMID:19752320|REF_RGD_ID:6907051 11966799 ITGAM integrin subunit alpha M gene DOID:3042 allergic contact dermatitis ISO RGD:1343608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 11966799 ITGAM integrin subunit alpha M gene DOID:4195 hyperglycemia ISO RGD:1343608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 11966799 ITGAM integrin subunit alpha M gene DOID:630 genetic disease ISO RGD:1343608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11966799 ITGAM integrin subunit alpha M gene DOID:9000522 Invasive Candidiasis ISO RGD:732433 D RGD:9068941 20200609 RGD protein: increased expression: kidney PMID:21063074|REF_RGD_ID:7207265 11966799 ITGAM integrin subunit alpha M gene DOID:9002955 Nerve Degeneration ISO RGD:1343608 D RGD:9068941 20201106 CTD CTD Direct Evidence: therapeutic PMID:32375810 11966799 ITGAM integrin subunit alpha M gene DOID:9005125 Lupus Vasculitis, Central Nervous System ISO RGD:1343608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26773105 11966799 ITGAM integrin subunit alpha M gene DOID:9005968 Neuralgia ISO RGD:2926 D RGD:9068941 20200609 RGD mRNA:increased expression:lumbar vertebra PMID:15145554|REF_RGD_ID:1342461 11966799 ITGAM integrin subunit alpha M gene DOID:9007692 Insulin Resistance ISO RGD:1343608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 11966799 ITGAM integrin subunit alpha M gene DOID:9074 systemic lupus erythematosus ISO RGD:1343608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 6 PMID:25741868|PMID:28492532 11966799 ITGAM integrin subunit alpha M gene DOID:9970 obesity ISO RGD:1343608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 11966835 SGMS2 sphingomyelin synthase 2 gene DOID:0080721 calvarial doughnut lesions with bone fragility ISO RGD:1605563 D RGD:7240710 20190731 OMIM 11966835 SGMS2 sphingomyelin synthase 2 gene DOID:0080721 calvarial doughnut lesions with bone fragility ISO RGD:1605563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia | ClinVar Annotator: match by term: Doughnut lesions of skull, familial PMID:19839042|PMID:25741868|PMID:28492532|PMID:30779713|PMID:32028018 11966835 SGMS2 sphingomyelin synthase 2 gene DOID:630 genetic disease ISO RGD:1605563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19839042|PMID:25741868|PMID:28492532|PMID:30779713|PMID:32028018 11966835 SGMS2 sphingomyelin synthase 2 gene DOID:9001715 3-Hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:1605563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of 3-hydroxyacyl-CoA dehydrogenase PMID:28492532 11966857 TRDMT1 tRNA aspartic acid methyltransferase 1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1606039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11966857 TRDMT1 tRNA aspartic acid methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1606039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11966857 TRDMT1 tRNA aspartic acid methyltransferase 1 gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:1606039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532 11966887 DCAF15 DDB1 and CUL4 associated factor 15 gene DOID:630 genetic disease ISO RGD:2306328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11966910 SNX12 sorting nexin 12 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11966910 SNX12 sorting nexin 12 gene DOID:12849 autistic disorder ISO RGD:1350610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11966910 SNX12 sorting nexin 12 gene DOID:630 genetic disease ISO RGD:1350610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11966910 SNX12 sorting nexin 12 gene DOID:9007898 FG Syndrome 1 ISO RGD:1350610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 11966962 CUX2 cut like homeobox 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1314310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11966962 CUX2 cut like homeobox 2 gene DOID:0111455 GRACILE syndrome ISO RGD:1314310 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GRACILE syndrome PMID:25741868 11966962 CUX2 cut like homeobox 2 gene DOID:0112203 developmental and epileptic encephalopathy 67 ISO RGD:1314310 D RGD:7240710 20190315 OMIM 11966962 CUX2 cut like homeobox 2 gene DOID:0112203 developmental and epileptic encephalopathy 67 ISO RGD:1314310 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 67 PMID:20404132|PMID:23020937|PMID:25741868|PMID:28492532|PMID:28628100|PMID:29630738|PMID:29795476 11966962 CUX2 cut like homeobox 2 gene DOID:1059 intellectual disability ISO RGD:1314310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11966962 CUX2 cut like homeobox 2 gene DOID:2224 essential thrombocythemia ISO RGD:1314310 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 PMID:20404132|PMID:25741868 11966962 CUX2 cut like homeobox 2 gene DOID:4971 myelofibrosis ISO RGD:1314310 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis PMID:20404132|PMID:25741868 11966962 CUX2 cut like homeobox 2 gene DOID:630 genetic disease ISO RGD:1314310 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11966962 CUX2 cut like homeobox 2 gene DOID:687 hepatoblastoma ISO RGD:1314310 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:20404132|PMID:25741868 11966962 CUX2 cut like homeobox 2 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:1314310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures 11966990 SLC22A9 solute carrier family 22 member 9 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1343950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11966990 SLC22A9 solute carrier family 22 member 9 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1343950 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 11966990 SLC22A9 solute carrier family 22 member 9 gene DOID:1059 intellectual disability ISO RGD:1343950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11966990 SLC22A9 solute carrier family 22 member 9 gene DOID:3883 Lynch syndrome ISO RGD:1343950 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 11966990 SLC22A9 solute carrier family 22 member 9 gene DOID:630 genetic disease ISO RGD:1343950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11967009 NIF3L1 NGG1 interacting factor 3 like 1 gene DOID:630 genetic disease ISO RGD:1321170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11967009 NIF3L1 NGG1 interacting factor 3 like 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1321170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 11967009 NIF3L1 NGG1 interacting factor 3 like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11967030 LTB lymphotoxin beta gene DOID:0050553 JMP syndrome ISO RGD:1353964 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11967030 LTB lymphotoxin beta gene DOID:11372 megacolon ISO RGD:1353964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11967030 LTB lymphotoxin beta gene DOID:2773 contact dermatitis ISO RGD:1551006 D RGD:9068941 20200609 RGD PMID:11390430|REF_RGD_ID:8548819 11967030 LTB lymphotoxin beta gene DOID:630 genetic disease ISO RGD:1353964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11967030 LTB lymphotoxin beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11967030 LTB lymphotoxin beta gene DOID:9111 cutaneous leishmaniasis ISO RGD:1551006 D RGD:9068941 20200609 RGD PMID:17911622|REF_RGD_ID:8548820 11967030 LTB lymphotoxin beta gene DOID:9146 visceral leishmaniasis ISO RGD:1551006 D RGD:9068941 20200609 RGD PMID:12115620|REF_RGD_ID:8548822 11967048 OVOL3 ovo like zinc finger 3 gene DOID:0110222 Brugada syndrome 5 ISO RGD:5683924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11967048 OVOL3 ovo like zinc finger 3 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:5683924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11967059 FASTK Fas activated serine/threonine kinase gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1605699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 11967059 FASTK Fas activated serine/threonine kinase gene DOID:2843 long QT syndrome ISO RGD:1605699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 11967059 FASTK Fas activated serine/threonine kinase gene DOID:630 genetic disease ISO RGD:1605699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0050573 2-hydroxyglutaric aciduria ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0050575 D-2-hydroxyglutaric aciduria treatment ISO RGD:1557355 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.R140Q(mouse) PMID:27469509|REF_RGD_ID:13506812 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413734|PMID:24413737 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1313391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:20171147|PMID:20847235|PMID:20946881|PMID:21250968|PMID:21596855|PMID:21889589|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:20171147|PMID:20847235|PMID:20946881|PMID:21250968|PMID:21596855|PMID:21647154|PMID:21889589|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:34641967 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0080005 bone remodeling disease ISO RGD:1557355 D RGD:9068941 20220825 MouseDO 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0080546 non-alcoholic fatty liver severity ISO RGD:1557355 D RGD:9068941 20200609 RGD PMID:29861476|REF_RGD_ID:14985251 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0080546 non-alcoholic fatty liver susceptibility ISO RGD:1557355 D RGD:9068941 20200609 RGD PMID:31064654|REF_RGD_ID:14985252 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0080547 non-alcoholic steatohepatitis ameliorates ISO RGD:1557355 D RGD:9068941 20210730 RGD PMID:28415887|REF_RGD_ID:14985253 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1313391 D RGD:7240710 20190918 OMIM 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:16199547|PMID:17576681|PMID:18414213|PMID:20171147|PMID:20847235|PMID:20946881|PMID:21647154|PMID:21889589|PMID:22160010|PMID:22397365|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:30975432|PMID:34641967|PMID:9536098 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:10534 stomach cancer ISO RGD:1313391 D RGD:9068941 20210723 RGD protein:decreased expression:stomach (human) PMID:27466503|REF_RGD_ID:149735569 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:10534 stomach cancer disease_progression ISO RGD:1313391 D RGD:9068941 20210730 RGD protein:decreased expression:stomach (human) PMID:25098926|REF_RGD_ID:149735841 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:1074 kidney failure ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:11111 hydronephrosis ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:11476 osteoporosis ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:1324 lung cancer ISO RGD:1313391 D RGD:9068941 20210723 RGD PMID:30128035|REF_RGD_ID:149735564 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:1824 status epilepticus ISO RGD:1597139 D RGD:9068941 20200609 RGD protein:increased acetylation:hippocampus PMID:29778462|REF_RGD_ID:14985255 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:255 hemangioma ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22057234 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:2602 chondroma ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22057234|PMID:25895133 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:2717 Bloom syndrome ISO RGD:1313391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3070 high grade glioma ISO RGD:1313391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brainstem glioma PMID:20946881|PMID:21250968|PMID:21596855|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23949315|PMID:24606448|PMID:25157968|PMID:26619011 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3181 oligodendroglioma ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20160062 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3307 teratoma ISO RGD:1313391 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:331 central nervous system disease ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1313391 D RGD:9068941 20210723 RGD human cells in mouse model PMID:32367071|REF_RGD_ID:149735568 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1313391 D RGD:9068941 20210723 RGD protein:increased expression:lung (human) PMID:30128035|REF_RGD_ID:149735564 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3907 lung squamous cell carcinoma severity ISO RGD:1313391 D RGD:9068941 20210723 RGD protein:increased expression:blood serum (human) PMID:29465809|REF_RGD_ID:149735567 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1313391 D RGD:9068941 20210723 RGD DNA:SNP:CD: (rs11540478) C>T (human) PMID:27649069|REF_RGD_ID:149735566 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1313391 D RGD:9068941 20210820 RGD DNA:SNP: (rs11540478) (human) PMID:25576295|REF_RGD_ID:150340558 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1313391 D RGD:9068941 20210723 RGD protein:increased expression:lung (human) PMID:30128035|REF_RGD_ID:149735564 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1313391 D RGD:9068941 20210723 RGD protein:increased expression:blood serum (human) PMID:29465809|REF_RGD_ID:149735567 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:4624 Ollier disease ISO RGD:1313391 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Enchondromatosis PMID:18414213|PMID:25741868|PMID:28492532 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:1557355 D RGD:9068941 20210730 RGD mRNA:decreased expression:liver (mouse) PMID:32463951|REF_RGD_ID:149735894 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1313391 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:22824796|REF_RGD_ID:14985256 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:4947 cholangiocarcinoma ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24185509 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:5016 hepatocellular clear cell carcinoma disease_progression ISO RGD:1313391 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs11632348(human) PMID:25355558|REF_RGD_ID:14974228 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:20171147|PMID:20847235|PMID:20946881|PMID:21647154|PMID:21889589|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:34641967 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:630 genetic disease ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20171147|PMID:20847235|PMID:20946881|PMID:21647154|PMID:21889589|PMID:22160010|PMID:22397365|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:34641967 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:6536 plasma cell neoplasm ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:20171147|PMID:20847235|PMID:20946881|PMID:21647154|PMID:21889589|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:34641967 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1313391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:20946881|PMID:21250968|PMID:21596855|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23949315|PMID:24606448|PMID:25157968|PMID:26619011 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1313391 D RGD:9068941 20200609 RGD PMID:24716838|REF_RGD_ID:14985249 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:8398 osteoarthritis ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9002159 Liver Reperfusion Injury severity ISO RGD:1557355 D RGD:9068941 20200609 RGD PMID:28938192|REF_RGD_ID:14985248 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9003571 Paraproteinemias ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:20171147|PMID:20847235|PMID:20946881|PMID:21647154|PMID:21889589|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:34641967 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9003936 Cardiomegaly ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9004253 Immunoblastic Lymphadenopathy ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413737 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9006205 Animal Disease Models ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9006257 Growth Disorders ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:1557355 D RGD:9068941 20200609 RGD PMID:31064654|REF_RGD_ID:14985252 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:1557355 D RGD:9068941 20200609 RGD PMID:31121248|REF_RGD_ID:14985250 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9007502 Brain Neoplasms ISO RGD:1313391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brain Neoplasms PMID:20946881|PMID:21250968|PMID:21596855|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23949315|PMID:24606448|PMID:25157968|PMID:26619011 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:20171147|PMID:20847235|PMID:20946881|PMID:21250968|PMID:21596855|PMID:21647154|PMID:21889589|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:34641967 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1313391 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:20171147|PMID:20847235|PMID:20946881|PMID:21250968|PMID:21596855|PMID:21889589|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26619011|PMID:28492532 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:20171147|PMID:20847235|PMID:20946881|PMID:21250968|PMID:21596855|PMID:21647154|PMID:21889589|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:34641967 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1313391 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.R140 (human) PMID:25324972|REF_RGD_ID:11522721 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1313391 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.R172(human) PMID:20368543|REF_RGD_ID:11522718 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9256 colorectal cancer ISO RGD:1313391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9408 acute myocardial infarction ISO RGD:1313391 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Acute myocardial infarction PMID:20946881|PMID:21250968|PMID:21596855|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23949315|PMID:24606448|PMID:25157968|PMID:26619011 11967090 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9538 multiple myeloma ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:20171147|PMID:20847235|PMID:20946881|PMID:21647154|PMID:21889589|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:34641967 11967105 LOC100981824 histone H4 gene DOID:9006342 Tessadori-van Haaften Neurodevelopmental Syndrome 4 ISO RGD:1342673 D RGD:7240710 20220720 OMIM 11967105 LOC100981824 histone H4 gene DOID:9006342 Tessadori-van Haaften Neurodevelopmental Syndrome 4 ISO RGD:1342673 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tessadori-Van Haaften neurodevelopmental syndrome 4 PMID:35202563 11967110 HBQ1 hemoglobin subunit theta 1 gene DOID:1099 alpha thalassemia ISO RGD:1313995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: alpha Thalassemia PMID:10602170|PMID:11017952|PMID:12393486|PMID:1553958|PMID:15650030|PMID:20154289|PMID:21599435|PMID:2318293|PMID:23590659|PMID:24025420|PMID:28791910|PMID:30864493|PMID:3191033|PMID:538560|PMID:7910813|PMID:8781536 11967110 HBQ1 hemoglobin subunit theta 1 gene DOID:630 genetic disease ISO RGD:1313995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11967140 MTUS1 microtubule associated scaffold protein 1 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:1343554 D RGD:9068941 20200609 RGD PMID:22153618|REF_RGD_ID:25330347 11967140 MTUS1 microtubule associated scaffold protein 1 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1343554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 11967140 MTUS1 microtubule associated scaffold protein 1 gene DOID:219 colon cancer ISO RGD:1343554 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:colon (human) PMID:19956880|REF_RGD_ID:2317016 11967140 MTUS1 microtubule associated scaffold protein 1 gene DOID:3459 breast carcinoma ISO RGD:1343554 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:breast carcinoma (human) PMID:19794912|REF_RGD_ID:2317017 11967140 MTUS1 microtubule associated scaffold protein 1 gene DOID:4001 ovarian carcinoma ISO RGD:1343554 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovarian carcinoma (human) PMID:16270321|REF_RGD_ID:2317019 11967140 MTUS1 microtubule associated scaffold protein 1 gene DOID:4866 salivary gland adenoid cystic carcinoma disease_progression ISO RGD:1343554 D RGD:9068941 20200609 RGD PMID:25885343|REF_RGD_ID:25330345 11967140 MTUS1 microtubule associated scaffold protein 1 gene DOID:4948 gallbladder carcinoma disease_progression ISO RGD:1343554 D RGD:9068941 20200609 RGD PMID:31882471|REF_RGD_ID:25330344 11967140 MTUS1 microtubule associated scaffold protein 1 gene DOID:630 genetic disease ISO RGD:1343554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11967169 MCM2 minichromosome maintenance complex component 2 gene DOID:0080600 COVID-19 ISO RGD:1313689 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11967169 MCM2 minichromosome maintenance complex component 2 gene DOID:0110592 autosomal dominant nonsyndromic deafness 70 ISO RGD:1313689 D RGD:7240710 20190315 OMIM 11967169 MCM2 minichromosome maintenance complex component 2 gene DOID:0110592 autosomal dominant nonsyndromic deafness 70 ISO RGD:1313689 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 70 PMID:25741868|PMID:26196677|PMID:28492532 11967169 MCM2 minichromosome maintenance complex component 2 gene DOID:0111947 immunodeficiency 21 ISO RGD:1313689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 11967169 MCM2 minichromosome maintenance complex component 2 gene DOID:10652 Alzheimer's disease ISO RGD:1313689 D RGD:9068941 20200609 RGD PMID:19946466|REF_RGD_ID:10412048 11967169 MCM2 minichromosome maintenance complex component 2 gene DOID:10652 Alzheimer's disease ISO RGD:1313690 D RGD:9068941 20200609 RGD PMID:17070803|REF_RGD_ID:10412050 11967169 MCM2 minichromosome maintenance complex component 2 gene DOID:630 genetic disease ISO RGD:1313689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11967169 MCM2 minichromosome maintenance complex component 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1313689 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11967169 MCM2 minichromosome maintenance complex component 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:1313689 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23770000 11967169 MCM2 minichromosome maintenance complex component 2 gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:1305577 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus PMID:17931356|REF_RGD_ID:10412049 11967169 MCM2 minichromosome maintenance complex component 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1313689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 11967169 MCM2 minichromosome maintenance complex component 2 gene DOID:9270 alkaptonuria ISO RGD:1313689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11967235 RTP3 receptor transporter protein 3 gene DOID:630 genetic disease ISO RGD:1353966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11967235 RTP3 receptor transporter protein 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1353966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17693185 11967235 RTP3 receptor transporter protein 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11967235 RTP3 receptor transporter protein 3 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1353966 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11967235 RTP3 receptor transporter protein 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1353966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17693185 11967242 ROR1 receptor tyrosine kinase like orphan receptor 1 gene DOID:0080263 autosomal recessive nonsyndromic deafness 108 ISO RGD:1352147 D RGD:7240710 20190315 OMIM 11967242 ROR1 receptor tyrosine kinase like orphan receptor 1 gene DOID:0080263 autosomal recessive nonsyndromic deafness 108 ISO RGD:1352147 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 108 PMID:25741868|PMID:27162350|PMID:28492532 11967242 ROR1 receptor tyrosine kinase like orphan receptor 1 gene DOID:1059 intellectual disability ISO RGD:1352147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11967242 ROR1 receptor tyrosine kinase like orphan receptor 1 gene DOID:630 genetic disease ISO RGD:1352147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11967242 ROR1 receptor tyrosine kinase like orphan receptor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 11967242 ROR1 receptor tyrosine kinase like orphan receptor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1352147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 11967251 DENND2A DENN domain containing 2A gene DOID:0080690 RASopathy ISO RGD:1314588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 11967251 DENND2A DENN domain containing 2A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11967251 DENND2A DENN domain containing 2A gene DOID:630 genetic disease ISO RGD:1314588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11967281 FAM43A family with sequence similarity 43 member A gene DOID:630 genetic disease ISO RGD:1343774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11967281 FAM43A family with sequence similarity 43 member A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11967301 POC1B POC1 centriolar protein B gene DOID:0050572 cone-rod dystrophy ISO RGD:1350683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868 11967301 POC1B POC1 centriolar protein B gene DOID:0111026 cone-rod dystrophy 20 ISO RGD:1350683 D RGD:7240710 20180130 OMIM 11967301 POC1B POC1 centriolar protein B gene DOID:0111026 cone-rod dystrophy 20 ISO RGD:1350683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 20 PMID:17576681|PMID:24945461|PMID:25018096|PMID:25044745|PMID:25741868|PMID:28492532|PMID:29220607|PMID:32244552|PMID:34065499|PMID:9536098 11967301 POC1B POC1 centriolar protein B gene DOID:630 genetic disease ISO RGD:1350683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11967301 POC1B POC1 centriolar protein B gene DOID:8501 fundus dystrophy ISO RGD:1350683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25018096|PMID:28492532|PMID:29220607 11967301 POC1B POC1 centriolar protein B gene DOID:9007491 Childhood Schizophrenia ISO RGD:1350683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 11967335 TBC1D5 TBC1 domain family member 5 gene DOID:0060417 3p deletion syndrome ISO RGD:1321047 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 11967335 TBC1D5 TBC1 domain family member 5 gene DOID:630 genetic disease ISO RGD:1321047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11967409 ZBTB34 zinc finger and BTB domain containing 34 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1353753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11967409 ZBTB34 zinc finger and BTB domain containing 34 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1353753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11967409 ZBTB34 zinc finger and BTB domain containing 34 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1353753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11967409 ZBTB34 zinc finger and BTB domain containing 34 gene DOID:630 genetic disease ISO RGD:1353753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11967429 CHRDL2 chordin like 2 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1314650 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11967429 CHRDL2 chordin like 2 gene DOID:1059 intellectual disability ISO RGD:1314650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11967429 CHRDL2 chordin like 2 gene DOID:630 genetic disease ISO RGD:1314650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11967459 PLEKHA8 pleckstrin homology domain containing A8 gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1348276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 11967459 PLEKHA8 pleckstrin homology domain containing A8 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11967459 PLEKHA8 pleckstrin homology domain containing A8 gene DOID:630 genetic disease ISO RGD:1348276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:0050902 medulloblastoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:26619011 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:0060040 pervasive developmental disorder ISO RGD:1347453 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pervasive developmental disorder PMID:25741868|PMID:28135719|PMID:35395208 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:26619011 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:25741868|PMID:26619011 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:1107 esophageal carcinoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:25741868|PMID:26619011 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:1324 lung cancer ISO RGD:1347453 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:1909 melanoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:25741868|PMID:26619011 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:2513 basal cell carcinoma ISO RGD:1347453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:2671 transitional cell carcinoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:25741868|PMID:26619011 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:3068 glioblastoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:26619011 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:3070 high grade glioma ISO RGD:1347453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18931460 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:363 uterine cancer ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:25741868|PMID:26619011 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:3717 gastric adenocarcinoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:25741868|PMID:26619011 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1347453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:25741868|PMID:26619011 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:3910 lung adenocarcinoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:26619011 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:4465 papillary renal cell carcinoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:26619011 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:25741868|PMID:26619011 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1347453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19246562|PMID:24394663 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:25741868|PMID:26619011 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:6171 uterine carcinosarcoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:25741868|PMID:26619011 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:630 genetic disease ISO RGD:1347453 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:8923 skin melanoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:25741868|PMID:26619011 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:9000135 Developmental Delay, Hypotonia, and Impaired Language ISO RGD:1347453 D RGD:7240710 20221109 OMIM 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:9000135 Developmental Delay, Hypotonia, and Impaired Language ISO RGD:1347453 D RGD:8554872 20221115 ClinVar ClinVar Annotator: match by term: Developmental delay, hypotonia, and impaired language PMID:25741868|PMID:28135719|PMID:35395208 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:25741868|PMID:26619011 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:9002981 Genomic Instability ISO RGD:1347453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17588203 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix PMID:25741868|PMID:26619011 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347453 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33057194 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:9006618 Liver Metastasis disease_progression ISO RGD:1347453 D RGD:9068941 20200609 RGD associated with colorectal cancer; PMID:28846828|REF_RGD_ID:21408566 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1347453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:26619011 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:25741868|PMID:26619011 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:9008939 Breast Neoplasms ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast tumor PMID:26619011 11967486 FBXW7 F-box and WD repeat domain containing 7 gene DOID:9256 colorectal cancer ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 11967513 F5 coagulation factor V gene DOID:0050424 familial adenomatous polyposis ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25200834 11967513 F5 coagulation factor V gene DOID:0050860 colorectal adenoma ISO RGD:1344593 D RGD:9068941 20210115 RGD protein:increased expression:serum PMID:30971492|REF_RGD_ID:40907058 11967513 F5 coagulation factor V gene DOID:0050864 non-arteritic anterior ischemic optic neuropathy ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R506Q (1691G>A) (human) PMID:15043529|REF_RGD_ID:7394764 11967513 F5 coagulation factor V gene DOID:0060903 thrombosis ISO RGD:10557 D RGD:9068941 20200609 RGD PMID:11110695|REF_RGD_ID:11564340 11967513 F5 coagulation factor V gene DOID:0060903 thrombosis ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11132655|PMID:9164807 11967513 F5 coagulation factor V gene DOID:0060903 thrombosis ISO RGD:1344593 D RGD:9068941 20200609 RGD associated with kidney failure, chronic;DNA:mutation: :1691G>A(human) PMID:16549134|REF_RGD_ID:6893627 11967513 F5 coagulation factor V gene DOID:0080600 COVID-19 ISO RGD:1344593 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11967513 F5 coagulation factor V gene DOID:0111902 thrombophilia due to activated protein C resistance ISO RGD:1344593 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thrombophilia due to activated protein C resistance PMID:10328130|PMID:10348711|PMID:10477778|PMID:10494770|PMID:10507841|PMID:10666427|PMID:11018168|PMID:11110695|PMID:11686338|PMID:11950065|PMID:12070000|PMID:12421138|PMID:12816860|PMID:14617013|PMID:14695241|PMID:14996674|PMID:15534175|PMID:15638861|PMID:16246256|PMID:16493002|PMID:16931580|PMID:19486170|PMID:19652888|PMID:20051284|PMID:21116184|PMID:21774968|PMID:22704462|PMID:23382263|PMID:23677252|PMID:23900608|PMID:24033266|PMID:25741868|PMID:25977387|PMID:26251307|PMID:26990548|PMID:27797270|PMID:28492532|PMID:31064749|PMID:34355501|PMID:7586244|PMID:7803250|PMID:7877648|PMID:7910348|PMID:7911872|PMID:8049422|PMID:8164730|PMID:8164741|PMID:8566967|PMID:8616100|PMID:8822583|PMID:9245936|PMID:9339109|PMID:9372726|PMID:9415695|PMID:9454741|PMID:9454742|PMID:9459326|PMID:9518910|PMID:9734642|PMID:9746807 11967513 F5 coagulation factor V gene DOID:0111902 thrombophilia due to activated protein C resistance susceptibility ISO RGD:1344593 D RGD:7240710 20230517 OMIM 11967513 F5 coagulation factor V gene DOID:0111907 thrombophilia due to thrombin defect ISO RGD:1344593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thrombophilia due to thrombin defect PMID:11950065|PMID:12816860|PMID:16246256|PMID:19486170|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31064749|PMID:34355501 11967513 F5 coagulation factor V gene DOID:10003 sensorineural hearing loss ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:mutation PMID:16015153|REF_RGD_ID:7387260 11967513 F5 coagulation factor V gene DOID:10003 sensorineural hearing loss no_association ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:SNP: :1691G>A (human) PMID:16572609|REF_RGD_ID:7387240 11967513 F5 coagulation factor V gene DOID:10283 prostate cancer ISO RGD:1344593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11967513 F5 coagulation factor V gene DOID:10487 Hirschsprung's disease ISO RGD:1344593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 11967513 F5 coagulation factor V gene DOID:10591 pre-eclampsia severity ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:mutation: :1691G>A(human) PMID:16246971|REF_RGD_ID:6893628 11967513 F5 coagulation factor V gene DOID:10762 portal hypertension ISO RGD:10557 D RGD:9068941 20200609 RGD associated with Acute Hepatitis;protein:decreased expression:serum (human) PMID:2777210|REF_RGD_ID:14700665 11967513 F5 coagulation factor V gene DOID:10762 portal hypertension ISO RGD:1344593 D RGD:9068941 20200609 RGD associated with Acute Hepatitis;protein:decreased expression:serum (human) PMID:2777210|REF_RGD_ID:14700665 11967513 F5 coagulation factor V gene DOID:10762 portal hypertension ISO RGD:1589758 D RGD:9068941 20200609 RGD associated with Acute Hepatitis;protein:decreased expression:serum (human) PMID:2777210|REF_RGD_ID:14700665 11967513 F5 coagulation factor V gene DOID:11512 Budd-Chiari syndrome ISO RGD:1344593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Budd-Chiari syndrome PMID:11950065|PMID:16246256|PMID:19486170|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31064749|PMID:34355501 11967513 F5 coagulation factor V gene DOID:11512 Budd-Chiari syndrome disease_progression ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:R506Q (human) PMID:26238013|REF_RGD_ID:11537993 11967513 F5 coagulation factor V gene DOID:11512 Budd-Chiari syndrome severity ISO RGD:1344593 D RGD:9068941 20200609 RGD Factor V Leiden;DNA:missense mutation:cds:G1691A (human) PMID:29771426|REF_RGD_ID:14700660 11967513 F5 coagulation factor V gene DOID:11512 Budd-Chiari syndrome severity ISO RGD:1344593 D RGD:9068941 20200609 RGD associated with hyperhomocysteinemia:DNA:missense mutation:cds: (R506Q) (human) PMID:16825912|REF_RGD_ID:14700661 11967513 F5 coagulation factor V gene DOID:11512 Budd-Chiari syndrome susceptibility ISO RGD:1344593 D RGD:7240710 20230517 OMIM 11967513 F5 coagulation factor V gene DOID:1247 blood coagulation disease ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17721328 11967513 F5 coagulation factor V gene DOID:13241 Behcet's disease no_association ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:mutation: :1691G>A (human) PMID:15077257|REF_RGD_ID:7394769 11967513 F5 coagulation factor V gene DOID:1540 parathyroid carcinoma ISO RGD:1344593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11967513 F5 coagulation factor V gene DOID:1612 breast cancer ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:25407022|REF_RGD_ID:10449101 11967513 F5 coagulation factor V gene DOID:1612 breast cancer no_association ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:SNPs: :rs6025 (human) PMID:25407022|REF_RGD_ID:10449101 11967513 F5 coagulation factor V gene DOID:1727 retinal vein occlusion ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12022286 11967513 F5 coagulation factor V gene DOID:1727 retinal vein occlusion ISO RGD:1344593 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;DNA:missense mutation:cds:p.R506Q (human) PMID:10511031|REF_RGD_ID:7394767 11967513 F5 coagulation factor V gene DOID:1727 retinal vein occlusion no_association ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:SNP:cds:1691G>A (human) PMID:10634550|REF_RGD_ID:7394773 11967513 F5 coagulation factor V gene DOID:1727 retinal vein occlusion onset ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:1691G>A (human) PMID:16113792|REF_RGD_ID:7394778 11967513 F5 coagulation factor V gene DOID:2213 hemorrhagic disease ISO RGD:1344593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532|PMID:31064749|PMID:34355501 11967513 F5 coagulation factor V gene DOID:2216 factor V deficiency ISO RGD:1344593 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Factor V deficiency | ClinVar Annotator: match by term: PARAHEMOPHILIA PMID:10328130|PMID:10348711|PMID:10477778|PMID:10494770|PMID:10507841|PMID:10666427|PMID:10942390|PMID:11018168|PMID:11110695|PMID:11418372|PMID:11435304|PMID:11564077|PMID:11686338|PMID:11781258|PMID:11950065|PMID:12070000|PMID:12393490|PMID:12421138|PMID:12816860|PMID:14996674|PMID:15534175|PMID:15638861|PMID:16246256|PMID:16476093|PMID:16493002|PMID:16931580|PMID:19486170|PMID:19652888|PMID:19900106|PMID:20051284|PMID:20735394|PMID:21116184|PMID:21774968|PMID:22044617|PMID:22704462|PMID:23382263|PMID:23677252|PMID:23900608|PMID:24033266|PMID:25741868|PMID:25977387|PMID:26251307|PMID:26990548|PMID:27797270|PMID:28492532|PMID:31064749|PMID:31268865|PMID:34355501|PMID:7586244|PMID:7803250|PMID:7877648|PMID:7910348|PMID:7911872|PMID:8049422|PMID:8164730|PMID:8164741|PMID:8566967|PMID:8616100|PMID:8822583|PMID:9245936|PMID:9339109|PMID:9372726|PMID:9415695|PMID:9454741|PMID:9459326|PMID:9488630|PMID:9518910|PMID:9694743|PMID:9734642|PMID:9746807 11967513 F5 coagulation factor V gene DOID:2216 factor V deficiency susceptibility ISO RGD:1344593 D RGD:7240710 20230517 OMIM 11967513 F5 coagulation factor V gene DOID:2237 hepatitis severity ISO RGD:10557 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:15340576|REF_RGD_ID:14700682 11967513 F5 coagulation factor V gene DOID:2237 hepatitis severity ISO RGD:1344593 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:15340576|REF_RGD_ID:14700682 11967513 F5 coagulation factor V gene DOID:2237 hepatitis severity ISO RGD:1589758 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:15340576|REF_RGD_ID:14700682 11967513 F5 coagulation factor V gene DOID:2237 hepatitis treatment ISO RGD:1344593 D RGD:9068941 20200609 RGD protein:increased expression (human) PMID:1903342|REF_RGD_ID:14700657 11967513 F5 coagulation factor V gene DOID:2316 brain ischemia ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15534175 11967513 F5 coagulation factor V gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1589758 D RGD:9068941 20200609 RGD PMID:15172885|REF_RGD_ID:1601118 11967513 F5 coagulation factor V gene DOID:3526 cerebral infarction ISO RGD:1344593 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ischemic stroke, susceptibility to PMID:10328130|PMID:10348711|PMID:10477778|PMID:10494770|PMID:10507841|PMID:10666427|PMID:11018168|PMID:11110695|PMID:11686338|PMID:12070000|PMID:12421138|PMID:14996674|PMID:15534175|PMID:15638861|PMID:16493002|PMID:16931580|PMID:19652888|PMID:20051284|PMID:21116184|PMID:21774968|PMID:22704462|PMID:23382263|PMID:23677252|PMID:23900608|PMID:24033266|PMID:25741868|PMID:25977387|PMID:26251307|PMID:26990548|PMID:27797270|PMID:28492532|PMID:34355501|PMID:7586244|PMID:7803250|PMID:7877648|PMID:7910348|PMID:7911872|PMID:8049422|PMID:8164730|PMID:8164741|PMID:8566967|PMID:8616100|PMID:8822583|PMID:9245936|PMID:9339109|PMID:9372726|PMID:9415695|PMID:9454741|PMID:9459326|PMID:9518910|PMID:9734642 11967513 F5 coagulation factor V gene DOID:3526 cerebral infarction susceptibility ISO RGD:1344593 D RGD:7240710 20230517 OMIM 11967513 F5 coagulation factor V gene DOID:3576 sagittal sinus thrombosis ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18382986 11967513 F5 coagulation factor V gene DOID:3770 pulmonary fibrosis severity ISO RGD:10557 D RGD:9068941 20200609 RGD PMID:11307811|REF_RGD_ID:11564339 11967513 F5 coagulation factor V gene DOID:5082 liver cirrhosis ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18485088 11967513 F5 coagulation factor V gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1344593 D RGD:9068941 20200609 RGD PMID:10520855|REF_RGD_ID:14700663 11967513 F5 coagulation factor V gene DOID:5082 liver cirrhosis susceptibility ISO RGD:1344593 D RGD:9068941 20200609 RGD associated with liver fibrosis, Factor V Leiden;DNA:missense mutation:cds:rs6025 (human) PMID:26226452|REF_RGD_ID:14700659 11967513 F5 coagulation factor V gene DOID:5844 myocardial infarction ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9531249 11967513 F5 coagulation factor V gene DOID:5844 myocardial infarction no_association ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:mutation:cds:1691G>A (human) PMID:10590188|REF_RGD_ID:11564337 11967513 F5 coagulation factor V gene DOID:5844 myocardial infarction susceptibility ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:mutation:cds:1691G>A (human) PMID:15131548|REF_RGD_ID:11564335 11967513 F5 coagulation factor V gene DOID:630 genetic disease ISO RGD:1344593 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10328130|PMID:10348711|PMID:10477778|PMID:10494770|PMID:10507841|PMID:10666427|PMID:11018168|PMID:11110695|PMID:11686338|PMID:12070000|PMID:12421138|PMID:14996674|PMID:15534175|PMID:15638861|PMID:16493002|PMID:16931580|PMID:19652888|PMID:20051284|PMID:21116184|PMID:21774968|PMID:22704462|PMID:23382263|PMID:23677252|PMID:23900608|PMID:24033266|PMID:25741868|PMID:25977387|PMID:26251307|PMID:26990548|PMID:27797270|PMID:28492532|PMID:34355501|PMID:7586244|PMID:7803250|PMID:7877648|PMID:7910348|PMID:7911872|PMID:8049422|PMID:8164730|PMID:8164741|PMID:8566967|PMID:8616100|PMID:8822583|PMID:9245936|PMID:9339109|PMID:9372726|PMID:9415695|PMID:9454741|PMID:9459326|PMID:9518910|PMID:9734642 11967513 F5 coagulation factor V gene DOID:6432 pulmonary hypertension ISO RGD:1344593 D RGD:9068941 20200609 RGD Chronic thromboembolic pulmonary hypertension (CTEPH) PMID:20182352|REF_RGD_ID:4892669 11967513 F5 coagulation factor V gene DOID:783 end stage renal disease ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:mutation: :1691G>A(human) PMID:19520684|REF_RGD_ID:6893522 11967513 F5 coagulation factor V gene DOID:8483 retinal artery occlusion no_association ISO RGD:1344593 D RGD:9068941 20200609 RGD PMID:12928685|REF_RGD_ID:1580362 11967513 F5 coagulation factor V gene DOID:869 cholesteatoma ISO RGD:1344593 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cholesteatoma 11967513 F5 coagulation factor V gene DOID:9000590 Dyspnea ISO RGD:1344593 D RGD:9068941 20200609 RGD PMID:16186475|REF_RGD_ID:4892656 11967513 F5 coagulation factor V gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:1589758 D RGD:9068941 20200609 RGD PMID:17431769|REF_RGD_ID:7394781 11967513 F5 coagulation factor V gene DOID:9001722 Dysarthria ISO RGD:1344593 D RGD:9068941 20200609 RGD PMID:15026880|REF_RGD_ID:1580361 11967513 F5 coagulation factor V gene DOID:9001916 Fetal Death no_association ISO RGD:1344593 D RGD:9068941 20200609 RGD PMID:14706682|REF_RGD_ID:1580130 11967513 F5 coagulation factor V gene DOID:9002488 Peritoneal Fibrosis ISO RGD:1589758 D RGD:9068941 20200609 RGD PMID:19458308|REF_RGD_ID:7394780 11967513 F5 coagulation factor V gene DOID:9002928 Colonic Neoplasms ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25200834 11967513 F5 coagulation factor V gene DOID:9002928 Colonic Neoplasms ISO RGD:1589758 D RGD:9068941 20210115 RGD protein:increased expression:serum PMID:25200834|REF_RGD_ID:10449102 11967513 F5 coagulation factor V gene DOID:9003049 Femur Head Necrosis ISO RGD:1344593 D RGD:9068941 20200609 RGD associated with kidney transplantation;1691G>A(human) PMID:16968732|REF_RGD_ID:6902907 11967513 F5 coagulation factor V gene DOID:9003121 Thromboembolism ISO RGD:1344593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thromboembolism PMID:25741868|PMID:31064749|PMID:34355501 11967513 F5 coagulation factor V gene DOID:9003505 Venous Thromboembolism ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7500743|PMID:9149031 11967513 F5 coagulation factor V gene DOID:9003505 Venous Thromboembolism ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:mutation: :1691G>A (human) PMID:25665832|REF_RGD_ID:10449100 11967513 F5 coagulation factor V gene DOID:9003505 Venous Thromboembolism disease_progression ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:SNP: :rs6025(human) PMID:26245493|REF_RGD_ID:11536892 11967513 F5 coagulation factor V gene DOID:9003871 Venous Thrombosis ISO RGD:1344593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:19486170|PMID:25741868|PMID:31064749 11967513 F5 coagulation factor V gene DOID:9004082 Mesenteric Ischemia ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24282370 11967513 F5 coagulation factor V gene DOID:9004484 Sepsis severity ISO RGD:1344593 D RGD:9068941 20200609 RGD PMID:16235188|REF_RGD_ID:4892622 11967513 F5 coagulation factor V gene DOID:9004484 Sepsis treatment ISO RGD:1589758 D RGD:9068941 20200609 RGD PMID:12000738|REF_RGD_ID:1598921 11967513 F5 coagulation factor V gene DOID:9004590 Acute Liver Failure severity ISO RGD:1344593 D RGD:9068941 20200609 RGD protein:altered expression (human) PMID:1740285|REF_RGD_ID:14700653 11967513 F5 coagulation factor V gene DOID:9005359 Hereditary Thrombophilia ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9136971 11967513 F5 coagulation factor V gene DOID:9005930 Endotoxemia ISO RGD:1589758 D RGD:9068941 20200609 RGD PMID:11092686|REF_RGD_ID:7394782 11967513 F5 coagulation factor V gene DOID:9007096 Stroke ISO RGD:1344593 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: CEREBROVASCULAR ACCIDENT PMID:10328130|PMID:10348711|PMID:10477778|PMID:10494770|PMID:10507841|PMID:10666427|PMID:11018168|PMID:11110695|PMID:11686338|PMID:12070000|PMID:12421138|PMID:14996674|PMID:15534175|PMID:15638861|PMID:16493002|PMID:16931580|PMID:19652888|PMID:20051284|PMID:21116184|PMID:21774968|PMID:22704462|PMID:23382263|PMID:23677252|PMID:23900608|PMID:24033266|PMID:25741868|PMID:25977387|PMID:26251307|PMID:26990548|PMID:27797270|PMID:28492532|PMID:34355501|PMID:7586244|PMID:7803250|PMID:7877648|PMID:7910348|PMID:7911872|PMID:8049422|PMID:8164730|PMID:8164741|PMID:8566967|PMID:8616100|PMID:8822583|PMID:9245936|PMID:9339109|PMID:9372726|PMID:9415695|PMID:9454741|PMID:9459326|PMID:9518910|PMID:9734642 11967513 F5 coagulation factor V gene DOID:9007102 Myocardial Ischemia ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:mutation, haplotype: :1691G>A (human) PMID:19524925|REF_RGD_ID:4892673 11967513 F5 coagulation factor V gene DOID:9007367 Septic Peritonitis disease_progression ISO RGD:10557 D RGD:9068941 20200609 RGD PMID:25690763|REF_RGD_ID:11564333 11967513 F5 coagulation factor V gene DOID:9007479 Habitual Abortions ISO RGD:1344593 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: FETAL LOSS, RECURRENT, SUSCEPTIBILITY TO PMID:10328130|PMID:10348711|PMID:10477778|PMID:10494770|PMID:10507841|PMID:10666427|PMID:11018168|PMID:11110695|PMID:11686338|PMID:12070000|PMID:12421138|PMID:14996674|PMID:15534175|PMID:15638861|PMID:16493002|PMID:16931580|PMID:19652888|PMID:20051284|PMID:21116184|PMID:21774968|PMID:22704462|PMID:23382263|PMID:23677252|PMID:23900608|PMID:24033266|PMID:25741868|PMID:25977387|PMID:26251307|PMID:26990548|PMID:27797270|PMID:28492532|PMID:34355501|PMID:7586244|PMID:7803250|PMID:7877648|PMID:7910348|PMID:7911872|PMID:8049422|PMID:8164730|PMID:8164741|PMID:8566967|PMID:8616100|PMID:8822583|PMID:9245936|PMID:9339109|PMID:9372726|PMID:9415695|PMID:9454741|PMID:9459326|PMID:9518910|PMID:9734642 11967513 F5 coagulation factor V gene DOID:9007479 Habitual Abortions susceptibility ISO RGD:1344593 D RGD:7240710 20230517 OMIM 11967513 F5 coagulation factor V gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1344593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 11967513 F5 coagulation factor V gene DOID:9008217 Hemorrhage ISO RGD:1344593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hemorrhage PMID:25741868|PMID:28492532|PMID:34355501 11967513 F5 coagulation factor V gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11967513 F5 coagulation factor V gene DOID:9477 pulmonary embolism ISO RGD:1344593 D RGD:9068941 20200609 RGD PMID:14996674|REF_RGD_ID:4892657 11967513 F5 coagulation factor V gene DOID:999 hypereosinophilic syndrome ISO RGD:1344593 D RGD:9068941 20200609 RGD PMID:15026880|REF_RGD_ID:1580361 11967542 LOC100983343 cytochrome c oxidase subunit 6B2 gene DOID:630 genetic disease ISO RGD:1349779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11967556 SPATA46 spermatogenesis associated 46 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1603514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11967556 SPATA46 spermatogenesis associated 46 gene DOID:1540 parathyroid carcinoma ISO RGD:1603514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11967556 SPATA46 spermatogenesis associated 46 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11967566 COPS5 COP9 signalosome subunit 5 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1321125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 11967566 COPS5 COP9 signalosome subunit 5 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1321125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 21 PMID:28492532 11967566 COPS5 COP9 signalosome subunit 5 gene DOID:630 genetic disease ISO RGD:1321125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11967566 COPS5 COP9 signalosome subunit 5 gene DOID:684 hepatocellular carcinoma ISO RGD:1321125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20698225 11967566 COPS5 COP9 signalosome subunit 5 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1321125 D RGD:9068941 20220707 RGD protein:increased expression:liver (human) PMID:26606000|REF_RGD_ID:11354707 11967566 COPS5 COP9 signalosome subunit 5 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1310301 D RGD:9068941 20220707 RGD protein:increased expression:liver (rat) PMID:26606000|REF_RGD_ID:11354707 11967579 SMPDL3B sphingomyelin phosphodiesterase acid like 3B gene DOID:630 genetic disease ISO RGD:1316663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11967594 MOSPD1 motile sperm domain containing 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11967594 MOSPD1 motile sperm domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1347086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11967594 MOSPD1 motile sperm domain containing 1 gene DOID:630 genetic disease ISO RGD:1347086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11967605 LEKR1 leucine, glutamate and lysine rich 1 gene DOID:630 genetic disease ISO RGD:1605790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11967627 CLCNKB chloride voltage-gated channel Kb gene DOID:0050450 Gitelman syndrome ISO RGD:736095 D RGD:9068941 20200609 RGD PMID:11102542|REF_RGD_ID:1300379 11967627 CLCNKB chloride voltage-gated channel Kb gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:736095 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11967627 CLCNKB chloride voltage-gated channel Kb gene DOID:0080130 mitochondrial DNA depletion syndrome 12a ISO RGD:736095 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant PMID:21415153|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 11967627 CLCNKB chloride voltage-gated channel Kb gene DOID:0110144 Bartter disease type 3 ISO RGD:736095 D RGD:7240710 20180509 OMIM 11967627 CLCNKB chloride voltage-gated channel Kb gene DOID:0110144 Bartter disease type 3 ISO RGD:736095 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bartter disease type 3 PMID:10831588|PMID:10906158|PMID:11102542|PMID:11734858|PMID:15531551|PMID:15875219|PMID:16902263|PMID:17185149|PMID:17622951|PMID:21415153|PMID:21631963|PMID:21865213|PMID:23703872|PMID:23991001|PMID:24033266|PMID:24058621|PMID:24271511|PMID:24830959|PMID:24965226|PMID:25326637|PMID:25525159|PMID:25741868|PMID:25810436|PMID:26467025|PMID:26920127|PMID:28288174|PMID:28381550|PMID:28492532|PMID:28555925|PMID:29254190|PMID:30773290|PMID:31115572|PMID:31672324|PMID:31690835|PMID:31803959|PMID:31834604|PMID:32576985|PMID:32857947|PMID:33532864|PMID:9326936 11967627 CLCNKB chloride voltage-gated channel Kb gene DOID:0110146 Bartter disease type 4b ISO RGD:736095 D RGD:7240710 20180509 OMIM 11967627 CLCNKB chloride voltage-gated channel Kb gene DOID:0110146 Bartter disease type 4b ISO RGD:736095 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bartter disease type 4B PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 11967627 CLCNKB chloride voltage-gated channel Kb gene DOID:10763 hypertension ISO RGD:736095 D RGD:9068941 20200609 RGD DNA:polymorphism:T481S PMID:15148291|REF_RGD_ID:1600684 11967627 CLCNKB chloride voltage-gated channel Kb gene DOID:10763 hypertension no_association ISO RGD:736095 D RGD:9068941 20200609 RGD DNA:polymorphism:T481S PMID:16003175|REF_RGD_ID:1600683 11967627 CLCNKB chloride voltage-gated channel Kb gene DOID:445 Bartter disease ISO RGD:736095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10561751 11967627 CLCNKB chloride voltage-gated channel Kb gene DOID:445 Bartter disease ISO RGD:736096 D RGD:9068941 20220825 MouseDO 11967627 CLCNKB chloride voltage-gated channel Kb gene DOID:576 proteinuria ISO RGD:736095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:24830959|PMID:25741868|PMID:26920127|PMID:28381550|PMID:28492532|PMID:29254190 11967627 CLCNKB chloride voltage-gated channel Kb gene DOID:630 genetic disease ISO RGD:736095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 11967627 CLCNKB chloride voltage-gated channel Kb gene DOID:9001601 Familial Focal Epilepsy, with Variable Foci 1 ISO RGD:736095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 1 PMID:25741868|PMID:30773290 11967627 CLCNKB chloride voltage-gated channel Kb gene DOID:9007758 Bartter Syndrome Type 3, with Hypocalciuria ISO RGD:736095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria PMID:15531551|PMID:16902263|PMID:17622951|PMID:24830959|PMID:24965226|PMID:25741868|PMID:26920127|PMID:28381550|PMID:28492532|PMID:29254190 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:0050534 congenital stationary night blindness ISO RGD:1319792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:12515255|PMID:28041643 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:0050535 exudative vitreoretinopathy ISO RGD:1319792 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29207047 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:0050572 cone-rod dystrophy ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:10090887|PMID:10413692|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11444963|PMID:11527935|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:14971589|PMID:15108289|PMID:15192030|PMID:15494742|PMID:15516930|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22264887|PMID:22312191|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24453473|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26247787|PMID:26527198|PMID:26593885|PMID:26780318|PMID:26872967|PMID:27014590|PMID:27535533|PMID:27628848|PMID:27739528|PMID:27820952|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29854428|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30480703|PMID:30718709|PMID:31015497|PMID:31212395|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31576780|PMID:31736247|PMID:31814694|PMID:32278709|PMID:32307445|PMID:32531858|PMID:32619608|PMID:32717343|PMID:32783370|PMID:33223529|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:0050664 Bietti crystalline corneoretinal dystrophy ISO RGD:1319792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy | ClinVar Annotator: match by term: Bietti tapetoretinal degeneration with marginal corneal dystrophy PMID:10958761|PMID:23755871|PMID:24938718|PMID:25312043|PMID:25741868|PMID:26780318|PMID:28041643|PMID:28492532|PMID:29186038|PMID:30718709|PMID:33546218|PMID:9054934 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:0050795 cone dystrophy ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:10880298|PMID:10958761|PMID:16103129|PMID:20335603|PMID:22427542|PMID:22968130|PMID:23134348|PMID:23755871|PMID:23940504|PMID:24265693|PMID:24938718|PMID:25312043|PMID:25346251|PMID:25474345|PMID:25525159|PMID:25698705|PMID:25741868|PMID:26593885|PMID:26780318|PMID:28041643|PMID:28118664|PMID:28224992|PMID:28341476|PMID:28492532|PMID:30060493|PMID:30190494|PMID:30718709|PMID:31522899|PMID:31736247|PMID:32783370|PMID:33546218|PMID:9054934|PMID:9973280 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:0050817 Stargardt disease ISO RGD:1319792 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10458172|PMID:10509673|PMID:10612508|PMID:10634594|PMID:10634626|PMID:10711710|PMID:10746567|PMID:10874631|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11379881|PMID:11385708|PMID:11527935|PMID:11673412|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11818392|PMID:11846518|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12202497|PMID:12515255|PMID:12592048|PMID:12796258|PMID:12962493|PMID:14517951|PMID:14709597|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16533065|PMID:16546111|PMID:16682602|PMID:16703556|PMID:16917483|PMID:17277736|PMID:17296903|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17893657|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18334942|PMID:18414213|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19339744|PMID:19365591|PMID:20029649|PMID:20108432|PMID:20128570|PMID:20335603|PMID:20404325|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22076985|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22395892|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22863181|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23134348|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23424971|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23940504|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24020726|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24273789|PMID:24342785|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24550365|PMID:24585425|PMID:24632595|PMID:24713488|PMID:24743636|PMID:24763286|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25087612|PMID:25097154|PMID:25097241|PMID:25283059|PMID:25301883|PMID:25312043|PMID:25326637|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25412400|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25884411|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26024099|PMID:26047050|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26377081|PMID:26527198|PMID:26551331|PMID:26593885|PMID:26720470|PMID:26764160|PMID:26766544|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27032803|PMID:27353947|PMID:27367509|PMID:27535533|PMID:27699414|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28118664|PMID:28130426|PMID:28166811|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28341476|PMID:28355279|PMID:28365912|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28771251|PMID:28947085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29343940|PMID:29422768|PMID:29461686|PMID:29526278|PMID:29555955|PMID:29641573|PMID:29847635|PMID:29847639|PMID:29847651|PMID:29848554|PMID:29854428|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30029497|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30337596|PMID:30480703|PMID:30576320|PMID:30643219|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30834176|PMID:30945053|PMID:31129250|PMID:31144483|PMID:31456290|PMID:31576780|PMID:31614660|PMID:31618761|PMID:31814693|PMID:31814694|PMID:31968401|PMID:32235935|PMID:32307445|PMID:32619608|PMID:32783370|PMID:32845068|PMID:33090715|PMID:33223529|PMID:33301772|PMID:33375396|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9490294|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:0050817 Stargardt disease ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10458172|PMID:10509673|PMID:10612508|PMID:10634594|PMID:10634626|PMID:10711710|PMID:10746567|PMID:10874631|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11673412|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11818392|PMID:11846518|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12202497|PMID:12515255|PMID:12592048|PMID:12796258|PMID:12962493|PMID:14517951|PMID:14709597|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16533065|PMID:16546111|PMID:16682602|PMID:16703556|PMID:16917483|PMID:17277736|PMID:17296903|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17724221|PMID:17893657|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18334942|PMID:18414213|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19339744|PMID:19365591|PMID:20029649|PMID:20108432|PMID:20128570|PMID:20335603|PMID:20404325|PMID:20647261|PMID:20696155|PMID:20801516|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22076985|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22395892|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22863181|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23134348|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23424971|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23940504|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24020726|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24273789|PMID:24342785|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24550365|PMID:24585425|PMID:24632595|PMID:24713488|PMID:24743636|PMID:24763286|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097154|PMID:25097241|PMID:25283059|PMID:25301883|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25412400|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25884411|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26024099|PMID:26047050|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26377081|PMID:26527198|PMID:26551331|PMID:26593885|PMID:26720470|PMID:26743751|PMID:26764160|PMID:26780318|PMID:26872967|PMID:26976702|PMID:26992781|PMID:27014590|PMID:27030965|PMID:27032803|PMID:27353947|PMID:27367509|PMID:27535533|PMID:27699414|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28341476|PMID:28355279|PMID:28365912|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28771251|PMID:28947085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29178665|PMID:29186038|PMID:29310964|PMID:29343940|PMID:29422768|PMID:29461686|PMID:29526278|PMID:29555955|PMID:29625472|PMID:29641573|PMID:29847635|PMID:29847639|PMID:29847651|PMID:29848554|PMID:29854428|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30029497|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30337596|PMID:30480703|PMID:30576320|PMID:30578500|PMID:30643219|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30820146|PMID:30834176|PMID:30903310|PMID:30945053|PMID:31129250|PMID:31144483|PMID:31212395|PMID:31213501|PMID:31318848|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31543898|PMID:31576780|PMID:31614660|PMID:31618761|PMID:31630094|PMID:31736247|PMID:31766579|PMID:31814693|PMID:31814694|PMID:31884623|PMID:31934596|PMID:31968401|PMID:32036094|PMID:32141364|PMID:32235935|PMID:32278709|PMID:32307445 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:0050817 Stargardt disease ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease PMID:32531858|PMID:32581362|PMID:32619608|PMID:32627976|PMID:32717343|PMID:32783370|PMID:32821503|PMID:32845050|PMID:32845068|PMID:33090715|PMID:33223529|PMID:33261146|PMID:33301772|PMID:33375396|PMID:33546218|PMID:33732702|PMID:34008892|PMID:34214897|PMID:35608843|PMID:8533764|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9490294|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:0110015 age related macular degeneration 2 ISO RGD:1319792 D RGD:7240710 20180130 OMIM 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:0110015 age related macular degeneration 2 ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 2 | ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 2 PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10634626|PMID:10711710|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12592048|PMID:12796258|PMID:14517951|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16533065|PMID:16546111|PMID:16682602|PMID:16703556|PMID:17277736|PMID:17296903|PMID:17325136|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18334942|PMID:18414213|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19365591|PMID:20029649|PMID:20128570|PMID:20404325|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23953153|PMID:23982839|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24265693|PMID:24273789|PMID:24342785|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24550365|PMID:24585425|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25301883|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25412400|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26527198|PMID:26593885|PMID:26743751|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27032803|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28355279|PMID:28365912|PMID:28446513|PMID:28492532|PMID:28559085|PMID:28947085|PMID:29099798|PMID:29114839|PMID:29162642|PMID:29178665|PMID:29186038|PMID:29310964|PMID:29422768|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29847651|PMID:29848554|PMID:29854428|PMID:29925512|PMID:29971439|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30337596|PMID:30480703|PMID:30576320|PMID:30643219|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30834176|PMID:30945053|PMID:31212395|PMID:31456290|PMID:31522899|PMID:31576780|PMID:31614660|PMID:31618761|PMID:31766579|PMID:32036094|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32531858|PMID:32619608|PMID:32821503|PMID:33223529|PMID:33375396|PMID:33546218|PMID:34008892|PMID:34214897|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9490294|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:0110026 age related macular degeneration 14 ISO RGD:1319792 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF PMID:10090887|PMID:10612508|PMID:10634594|PMID:10880298|PMID:11017087|PMID:11444963|PMID:11726554|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:15516930|PMID:16400609|PMID:18285826|PMID:18977788|PMID:19217903|PMID:20981092|PMID:22264887|PMID:22589445|PMID:23144455|PMID:23695285|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24409374|PMID:24713488|PMID:25082885|PMID:25097241|PMID:25283059|PMID:25333069|PMID:25741868|PMID:26247787|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28446513|PMID:28492532|PMID:29925512|PMID:30718709|PMID:31522899|PMID:32278709|PMID:32531858|PMID:9054934|PMID:9973280 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:0110354 retinitis pigmentosa 19 ISO RGD:1319792 D RGD:7240710 20180130 OMIM 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:0110354 retinitis pigmentosa 19 ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 19 PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10634626|PMID:10711710|PMID:10874631|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11846518|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12592048|PMID:12796258|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16533065|PMID:16546111|PMID:16682602|PMID:16703556|PMID:17277736|PMID:17296903|PMID:17576681|PMID:17724221|PMID:18024811|PMID:18285826|PMID:18414213|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19074458|PMID:19217903|PMID:19265867|PMID:19365591|PMID:20128570|PMID:20554613|PMID:20696155|PMID:20981092|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22395892|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22968130|PMID:23105016|PMID:23134348|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23953153|PMID:23982839|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24265693|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24585425|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25356976|PMID:25412400|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26527198|PMID:26593885|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27032803|PMID:27353947|PMID:27535533|PMID:27583828|PMID:27775217|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28341476|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28559085|PMID:28947085|PMID:29099798|PMID:29114839|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29422768|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29847651|PMID:29854428|PMID:29925512|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30337596|PMID:30576320|PMID:30578500|PMID:30670881|PMID:30718709|PMID:30834176|PMID:31212395|PMID:31213501|PMID:31456290|PMID:31522899|PMID:31576780|PMID:31766579|PMID:32235935|PMID:32278709|PMID:32531858|PMID:32619608|PMID:32821503|PMID:33223529|PMID:33546218|PMID:34008892|PMID:34214897|PMID:9054934|PMID:9070931|PMID:9295268|PMID:92952680|PMID:9425888|PMID:9466990|PMID:9490294|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:0111000 Joubert syndrome 5 ISO RGD:1319792 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Joubert syndrome 5 PMID:10958763|PMID:11017087|PMID:12037008|PMID:12796258|PMID:16103129|PMID:18285826|PMID:19074458|PMID:19217903|PMID:20696155|PMID:21786275|PMID:22025579|PMID:22264887|PMID:22312191|PMID:22427542|PMID:22661473|PMID:23755871|PMID:23769331|PMID:24033266|PMID:24265693|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25640233|PMID:25712131|PMID:25741868|PMID:25921964|PMID:26527198|PMID:26593885|PMID:26780318|PMID:27535533|PMID:28041643|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28327576|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30060493|PMID:30718709|PMID:31522899|PMID:33223529|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9973280 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:0111013 cone-rod dystrophy 3 ISO RGD:1319792 D RGD:7240710 20180130 OMIM 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:0111013 cone-rod dystrophy 3 ISO RGD:1319792 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 3 PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10458172|PMID:10509673|PMID:10612508|PMID:10634594|PMID:10634626|PMID:10711710|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11594993|PMID:11673412|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12592048|PMID:12796258|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16533065|PMID:16546111|PMID:16682602|PMID:16703556|PMID:17277736|PMID:17296903|PMID:17325136|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18414213|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19074458|PMID:19217903|PMID:19265867|PMID:19365591|PMID:20029649|PMID:20128570|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22968130|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24265693|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24632595|PMID:24713488|PMID:24763286|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25087612|PMID:25097154|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25356976|PMID:25412400|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26047050|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26527198|PMID:26593885|PMID:26743751|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27032803|PMID:27535533|PMID:27583828|PMID:27596865|PMID:27775217|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28355279|PMID:28446513|PMID:28492532|PMID:28559085|PMID:28947085|PMID:29114839|PMID:29162642|PMID:29178665|PMID:29186038|PMID:29310964|PMID:29343940|PMID:29422768|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29847639|PMID:29847651|PMID:29854428|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30060493|PMID:30093795|PMID:30337596|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:30820146|PMID:30834176|PMID:30902645|PMID:31129250|PMID:31212395|PMID:31318848|PMID:31522899|PMID:31576780|PMID:31766579|PMID:32141364|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32531858|PMID:32619608|PMID:32821503|PMID:32845050|PMID:33090715|PMID:33223529|PMID:33375396|PMID:33546218|PMID:34008892|PMID:34214897|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9490294|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1319792 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090887|PMID:10206579|PMID:10396622|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11527935|PMID:11594993|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:14971589|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16917483|PMID:17325136|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25640233|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26497376|PMID:26527198|PMID:26593885|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28118664|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:31015497|PMID:31814694|PMID:31968401|PMID:32235935|PMID:32307445|PMID:32619608|PMID:33223529|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1319792 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090887|PMID:10206579|PMID:10396622|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11527935|PMID:11594993|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:14971589|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16917483|PMID:17325136|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25640233|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26497376|PMID:26527198|PMID:26593885|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28118664|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:31015497|PMID:31213501|PMID:31456290|PMID:31814694|PMID:31968401|PMID:32235935|PMID:32307445|PMID:32619608|PMID:33223529|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1319792 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090887|PMID:10206579|PMID:10396622|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11527935|PMID:11594993|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:14971589|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16917483|PMID:17325136|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25640233|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26497376|PMID:26527198|PMID:26593885|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28118664|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:31015497|PMID:31213501|PMID:31456290|PMID:31814694|PMID:31968401|PMID:32235935|PMID:32307445|PMID:32531858|PMID:32619608|PMID:33223529|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090887|PMID:10206579|PMID:10396622|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11444963|PMID:11527935|PMID:11594993|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:14971589|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16917483|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26497376|PMID:26527198|PMID:26593885|PMID:26743751|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27628848|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28512305|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:30902645|PMID:31015497|PMID:31213501|PMID:31456290|PMID:31522899|PMID:31736247|PMID:31814694|PMID:31968401|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32413971|PMID:32531858|PMID:32619608|PMID:32783370|PMID:32845050|PMID:33223529|PMID:33375396|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1319792 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090887|PMID:10206579|PMID:10396622|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11444963|PMID:11527935|PMID:11594993|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:14971589|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16917483|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26497376|PMID:26527198|PMID:26593885|PMID:26743751|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27628848|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28512305|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29847651|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:30902645|PMID:31015497|PMID:31213501|PMID:31456290|PMID:31522899|PMID:31736247|PMID:31814694|PMID:31968401|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32413971|PMID:32531858|PMID:32619608|PMID:32783370|PMID:32845050|PMID:33223529|PMID:33375396|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:10584 retinitis pigmentosa susceptibility ISO RGD:1319792 D RGD:9068941 20200609 RGD PMID:9466990|REF_RGD_ID:1598552 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:10871 age related macular degeneration ISO RGD:1319792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Age-related macular degeneration | ClinVar Annotator: match by term: MACULAR DEGENERATION, SENILE | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10634626|PMID:10711710|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12592048|PMID:12796258|PMID:14517951|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16533065|PMID:16546111|PMID:16682602|PMID:16703556|PMID:17277736|PMID:17296903|PMID:17325136|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18334942|PMID:18414213|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19365591|PMID:20029649|PMID:20128570|PMID:20404325|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23953153|PMID:23982839|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24265693|PMID:24273789|PMID:24342785|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24585425|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25301883|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25412400|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26527198|PMID:26593885|PMID:26743751|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27032803|PMID:27367509|PMID:27535533|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28355279|PMID:28365912|PMID:28446513|PMID:28492532|PMID:28559085|PMID:28947085|PMID:29099798|PMID:29114839|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29422768|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29847651|PMID:29848554|PMID:29854428|PMID:29925512|PMID:29971439|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30337596|PMID:30480703|PMID:30576320|PMID:30643219|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30834176|PMID:30945053|PMID:31212395|PMID:31522899|PMID:31576780|PMID:31614660|PMID:31618761|PMID:31766579|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32531858|PMID:32619608|PMID:32821503|PMID:33223529|PMID:33375396|PMID:33546218|PMID:34008892|PMID:34214897|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9490294|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:1242 globe disease ISO RGD:1319792 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Globe disease PMID:11527935|PMID:24265693|PMID:25741868|PMID:28118664|PMID:28492532|PMID:29925512|PMID:33546218 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:1432 blindness ISO RGD:1319792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blindness PMID:10958761|PMID:24938718|PMID:25312043|PMID:25741868|PMID:26780318|PMID:28041643|PMID:28492532|PMID:9973280 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:14791 Leber congenital amaurosis ISO RGD:1319792 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congenital retinal blindness PMID:10090887|PMID:10711710|PMID:10958761|PMID:11527935|PMID:11687513|PMID:19074458|PMID:21873672|PMID:23755871|PMID:23769331|PMID:24342785|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25312043|PMID:25525159|PMID:25544989|PMID:25741868|PMID:25922843|PMID:26103963|PMID:26780318|PMID:26872967|PMID:28041643|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29854428|PMID:29925512|PMID:30060493|PMID:30718709|PMID:30834176|PMID:31522899|PMID:31766579|PMID:33546218|PMID:9781034 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:4448 macular degeneration ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular degeneration | ClinVar Annotator: match by term: Macular dystrophy PMID:10090887|PMID:10206579|PMID:10458172|PMID:10634594|PMID:10711710|PMID:10874631|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11527935|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:14971589|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20647261|PMID:20696155|PMID:20960624|PMID:20981092|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23143460|PMID:23419329|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26229699|PMID:26261413|PMID:26527198|PMID:26593885|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27367509|PMID:27535533|PMID:27628848|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28559085|PMID:28947085|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29925512|PMID:29971439|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:31015497|PMID:31213501|PMID:31456290|PMID:31522899|PMID:31736247|PMID:32036094|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32619608|PMID:32783370|PMID:33223529|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:4448 macular degeneration susceptibility ISO RGD:1319792 D RGD:9068941 20200609 RGD PMID:9295268|REF_RGD_ID:1598551 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:574 peripheral nervous system disease ISO RGD:1319792 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10090887|PMID:10612508|PMID:10634594|PMID:10880298|PMID:10958763|PMID:11017087|PMID:11444963|PMID:11726554|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:15516930|PMID:16400609|PMID:18285826|PMID:18977788|PMID:19265867|PMID:20981092|PMID:22247458|PMID:22264887|PMID:23144455|PMID:23695285|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24713488|PMID:25082885|PMID:25097241|PMID:25283059|PMID:25333069|PMID:25741868|PMID:26247787|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28446513|PMID:28492532|PMID:30718709|PMID:31522899|PMID:32278709|PMID:32531858|PMID:9054934 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:630 genetic disease ISO RGD:1319792 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10090887|PMID:10612508|PMID:10634594|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11444963|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:15108289|PMID:15516930|PMID:15579991|PMID:16103129|PMID:16400609|PMID:17576681|PMID:18285826|PMID:18977788|PMID:19074458|PMID:19217903|PMID:20029649|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21786275|PMID:22025579|PMID:22229821|PMID:22264887|PMID:22312191|PMID:22427542|PMID:22449572|PMID:22661473|PMID:23144455|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23953153|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24265693|PMID:24713488|PMID:24938718|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25474345|PMID:25640233|PMID:25712131|PMID:25741868|PMID:25921964|PMID:26103963|PMID:26247787|PMID:26527198|PMID:26593885|PMID:26743751|PMID:26780318|PMID:26872967|PMID:27535533|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28327576|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29162642|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30060493|PMID:30718709|PMID:31522899|PMID:32278709|PMID:32531858|PMID:33223529|PMID:33375396|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9536098|PMID:9973280 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:8466 retinal degeneration ISO RGD:1319792 D RGD:9068941 20200609 RGD DNA:mutation:exon:p.G1961E PMID:22661473|REF_RGD_ID:7829712 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:8466 retinal degeneration ISO RGD:1616873 D RGD:9068941 20200609 RGD PMID:19553623|REF_RGD_ID:7829710 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:8501 fundus dystrophy ISO RGD:1319792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10458172|PMID:10509673|PMID:10612508|PMID:10634594|PMID:10634626|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11594993|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11818392|PMID:11846518|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12592048|PMID:12796258|PMID:12962493|PMID:14517951|PMID:14709597|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16533065|PMID:16546111|PMID:16682602|PMID:16703556|PMID:16896346|PMID:16917483|PMID:17277736|PMID:17296903|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17893657|PMID:17932850|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18334942|PMID:18414213|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19339744|PMID:19352439|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20404325|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20852892|PMID:20960624|PMID:20981092|PMID:21293320|PMID:21296825|PMID:21330655|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22076985|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22395892|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22863181|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23341817|PMID:23419329|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23940504|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24020726|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24273789|PMID:24342785|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24550365|PMID:24632595|PMID:24677105|PMID:24713488|PMID:24743636|PMID:24763286|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25301883|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25412400|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25681002|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26024099|PMID:26047050|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26377081|PMID:26527198|PMID:26551331|PMID:26593885|PMID:26720470|PMID:26743751|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27030965|PMID:27032803|PMID:27353947|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27699414|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28147405|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28341476|PMID:28355279|PMID:28365912|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28771251|PMID:28947085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29178665|PMID:29186038|PMID:29310964|PMID:29343940|PMID:29422768|PMID:29461686|PMID:29526278|PMID:29555955|PMID:29641573|PMID:29847635|PMID:29847651|PMID:29848554|PMID:29854428|PMID:29925512|PMID:29975949|PMID:30029497|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30337596|PMID:30576320|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30820146|PMID:30834176|PMID:30903310|PMID:31015497|PMID:31144483|PMID:31212395|PMID:31213501|PMID:31318848|PMID:31397521|PMID:31456290|PMID:31522899|PMID:31576780|PMID:31736247|PMID:31766579|PMID:31884623|PMID:31934596|PMID:31968401|PMID:32016942|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32627976|PMID:32783370|PMID:32821503|PMID:33090715|PMID:33129279|PMID:33223529|PMID:33261146|PMID:33301772|PMID:33375396|PMID:33546218 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:8501 fundus dystrophy ISO RGD:1319792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:33691693|PMID:33732702|PMID:34008892|PMID:34073554|PMID:8533764|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9490294|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:870 neuropathy ISO RGD:1319792 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10090887|PMID:10612508|PMID:10634594|PMID:10880298|PMID:10958763|PMID:11017087|PMID:11444963|PMID:11726554|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:15516930|PMID:16400609|PMID:18285826|PMID:18977788|PMID:19265867|PMID:20981092|PMID:22247458|PMID:22264887|PMID:23144455|PMID:23695285|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24713488|PMID:25082885|PMID:25097241|PMID:25283059|PMID:25333069|PMID:25741868|PMID:26247787|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28446513|PMID:28492532|PMID:30718709|PMID:31522899|PMID:32278709|PMID:32531858|PMID:9054934 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:9000290 Stargardt Disease 3 ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stargardt disease 3 PMID:25741868|PMID:28492532 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:9000341 Concentric Annular Macular Dystrophy ISO RGD:1319792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy, concentric annular PMID:10090887|PMID:10958761|PMID:10958763|PMID:15614537|PMID:18285826|PMID:19074458|PMID:20696155|PMID:22264887|PMID:22328824|PMID:23443024|PMID:23591405|PMID:23695285|PMID:24342785|PMID:24713488|PMID:24938718|PMID:25082885|PMID:25097241|PMID:25312043|PMID:25525159|PMID:25544989|PMID:25741868|PMID:26261413|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27775217|PMID:28041643|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29310964|PMID:29461686|PMID:29925512|PMID:30576320|PMID:30718709|PMID:32235935|PMID:33546218 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:9000343 Vision Disorders ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:10958761|PMID:10958763|PMID:11702214|PMID:15192030|PMID:16199547|PMID:24550365|PMID:24938718|PMID:25312043|PMID:25741868|PMID:26780318|PMID:28118664|PMID:28492532|PMID:28559085|PMID:31212395 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:9005690 Mandibulofacial Dysostosis with Mental Deficiency ISO RGD:1319792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mandibulofacial dysostosis with mental deficiency PMID:10396622|PMID:11017087|PMID:11527935|PMID:11726554|PMID:15579991|PMID:16682602|PMID:18854780|PMID:19074458|PMID:23419329|PMID:25283059|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30718709|PMID:33546218|PMID:9973280 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1319792 D RGD:7240710 20180130 OMIM 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Generalized choriocapillaris dystrophy | ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1 PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10458172|PMID:10509673|PMID:10612508|PMID:10634594|PMID:10634626|PMID:10711710|PMID:10746567|PMID:10874631|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11673412|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11818392|PMID:11846518|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12202497|PMID:12515255|PMID:12592048|PMID:12796258|PMID:12962493|PMID:14517951|PMID:14709597|PMID:14971589|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16533065|PMID:16546111|PMID:16682602|PMID:16703556|PMID:16917483|PMID:17277736|PMID:17296903|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17724221|PMID:17893657|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18334942|PMID:18414213|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19339744|PMID:19365591|PMID:20029649|PMID:20108432|PMID:20128570|PMID:20335603|PMID:20404325|PMID:20647261|PMID:20696155|PMID:20801516|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22076985|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22395892|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22863181|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23134348|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23424971|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24020726|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24273789|PMID:24342785|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24550365|PMID:24585425|PMID:24632595|PMID:24713488|PMID:24743636|PMID:24763286|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097154|PMID:25097241|PMID:25283059|PMID:25301883|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25412400|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25884411|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26024099|PMID:26047050|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26377081|PMID:26527198|PMID:26551331|PMID:26593885|PMID:26720470|PMID:26743751|PMID:26764160|PMID:26780318|PMID:26872967|PMID:26976702|PMID:26992781|PMID:27014590|PMID:27030965|PMID:27032803|PMID:27353947|PMID:27367509|PMID:27535533|PMID:27628848|PMID:27699414|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28341476|PMID:28355279|PMID:28365912|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28771251|PMID:28947085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29178665|PMID:29186038|PMID:29310964|PMID:29343940|PMID:29422768|PMID:29461686|PMID:29526278|PMID:29555955|PMID:29625472|PMID:29641573|PMID:29847635|PMID:29847639|PMID:29847651|PMID:29848554|PMID:29854428|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30029497|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30337596|PMID:30480703|PMID:30576320|PMID:30643219|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30820146|PMID:30834176|PMID:30903310|PMID:30945053|PMID:31015497|PMID:31129250|PMID:31144483|PMID:31212395|PMID:31213501|PMID:31318848|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31543898|PMID:31576780|PMID:31614660|PMID:31618761|PMID:31630094|PMID:31736247|PMID:31766579|PMID:31814693|PMID:31814694|PMID:31884623|PMID:31934596|PMID:32036094 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Generalized choriocapillaris dystrophy | ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1 PMID:32141364|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32627976|PMID:32717343|PMID:32783370|PMID:32821503|PMID:32845050|PMID:32845068|PMID:33090715|PMID:33223529|PMID:33261146|PMID:33301772|PMID:33375396|PMID:33546218|PMID:33732702|PMID:34008892|PMID:34214897|PMID:35608843|PMID:8533764|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9490294|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:9006630 Stargardt Disease 1 susceptibility ISO RGD:1319792 D RGD:9068941 20200609 RGD DNA:mutation:exon:c.2041C>T(human) PMID:24342785|REF_RGD_ID:7829716 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:9006630 Stargardt Disease 1 susceptibility ISO RGD:1319792 D RGD:9068941 20200609 RGD DNA:mutations:multiple: PMID:22328824|REF_RGD_ID:7815045 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:9006630 Stargardt Disease 1 treatment ISO RGD:1319792 D RGD:9068941 20200609 RGD PMID:18463687|REF_RGD_ID:7815046 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:9008296 Eye Abnormalities ISO RGD:1319792 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:11017087|PMID:11527935|PMID:19265867|PMID:22264887|PMID:24265693|PMID:25741868|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29925512|PMID:30576320|PMID:33546218|PMID:9054934 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319792 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:9008818 Retinal Dystrophy, Early Onset Severe ISO RGD:1319792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy, early-onset severe PMID:10958761|PMID:11385708|PMID:24938718|PMID:25312043|PMID:25544989|PMID:25741868|PMID:26780318|PMID:28041643|PMID:28492532|PMID:28947085|PMID:30718709|PMID:33546218|PMID:9973280 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:9296 cleft lip ISO RGD:1319792 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20436469 11967653 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:9335 scotoma ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Central scotoma PMID:10958761|PMID:16199547|PMID:24938718|PMID:25312043|PMID:25741868|PMID:26780318|PMID:28118664|PMID:28492532|PMID:28559085 11967707 SERPINB11 serpin family B member 11 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1315147 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11967707 SERPINB11 serpin family B member 11 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1315147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 11967707 SERPINB11 serpin family B member 11 gene DOID:630 genetic disease ISO RGD:1315147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11967729 IFI27 interferon alpha inducible protein 27 gene DOID:0080054 achondrogenesis type IA ISO RGD:1351661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11967729 IFI27 interferon alpha inducible protein 27 gene DOID:0081063 DICER1 syndrome ISO RGD:1351661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 11967729 IFI27 interferon alpha inducible protein 27 gene DOID:10608 celiac disease ISO RGD:1351661 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 11967729 IFI27 interferon alpha inducible protein 27 gene DOID:630 genetic disease ISO RGD:1351661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11967729 IFI27 interferon alpha inducible protein 27 gene DOID:9001488 Human Influenza ISO RGD:1351661 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11967754 PCDHB13 protocadherin beta 13 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1313625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11967754 PCDHB13 protocadherin beta 13 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313625 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11967754 PCDHB13 protocadherin beta 13 gene DOID:630 genetic disease ISO RGD:1313625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11967754 PCDHB13 protocadherin beta 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11967754 PCDHB13 protocadherin beta 13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313625 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11967761 TMX3 thioredoxin related transmembrane protein 3 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1348440 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11967761 TMX3 thioredoxin related transmembrane protein 3 gene DOID:11372 megacolon ISO RGD:1348440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11967761 TMX3 thioredoxin related transmembrane protein 3 gene DOID:630 genetic disease ISO RGD:1348440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11967761 TMX3 thioredoxin related transmembrane protein 3 gene DOID:8445 intestinal volvulus ISO RGD:1348440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11967761 TMX3 thioredoxin related transmembrane protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11967761 TMX3 thioredoxin related transmembrane protein 3 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1348440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11967781 IKZF5 IKAROS family zinc finger 5 gene DOID:2340 craniosynostosis ISO RGD:1322164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 11967781 IKZF5 IKAROS family zinc finger 5 gene DOID:9003149 2-Methylbutyryl-CoA Dehydrogenase Deficiency ISO RGD:1322164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase PMID:28492532 11967781 IKZF5 IKAROS family zinc finger 5 gene DOID:9008457 Thrombocytopenia 7 ISO RGD:1322164 D RGD:7240710 20210113 OMIM 11967781 IKZF5 IKAROS family zinc finger 5 gene DOID:9008457 Thrombocytopenia 7 ISO RGD:1322164 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 7 PMID:25741868|PMID:31217188|PMID:32419556 11967804 ZNF33B zinc finger protein 33B gene DOID:630 genetic disease ISO RGD:1347257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11967817 BCAT1 branched chain amino acid transaminase 1 gene DOID:0080600 COVID-19 ISO RGD:1345403 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11967817 BCAT1 branched chain amino acid transaminase 1 gene DOID:13580 cholestasis ISO RGD:1345403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 11967817 BCAT1 branched chain amino acid transaminase 1 gene DOID:630 genetic disease ISO RGD:1345403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11967817 BCAT1 branched chain amino acid transaminase 1 gene DOID:9000998 Brain Injuries ISO RGD:2195 D RGD:9068941 20200609 RGD Protein:increased expression:neurons PMID:10686349|REF_RGD_ID:631308 11967817 BCAT1 branched chain amino acid transaminase 1 gene DOID:9004657 Weight Gain ISO RGD:1345403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11967847 RYK receptor like tyrosine kinase gene DOID:630 genetic disease ISO RGD:1346179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11967847 RYK receptor like tyrosine kinase gene DOID:674 cleft palate ISO RGD:1346179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10932185 11967847 RYK receptor like tyrosine kinase gene DOID:9004657 Weight Gain ISO RGD:1346179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11967847 RYK receptor like tyrosine kinase gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1346179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10932185 11967847 RYK receptor like tyrosine kinase gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1346179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 11967875 TULP1 TUB like protein 1 gene DOID:0050553 JMP syndrome ISO RGD:1322319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11967875 TULP1 TUB like protein 1 gene DOID:0050581 brachydactyly ISO RGD:1322319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:15024725|PMID:31549751 11967875 TULP1 TUB like protein 1 gene DOID:0050817 Stargardt disease ISO RGD:1322319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:25741868 11967875 TULP1 TUB like protein 1 gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:1322319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:17620573|PMID:17962469|PMID:21792230|PMID:23661368|PMID:25741868|PMID:26394700|PMID:26856745|PMID:28492532|PMID:28559085|PMID:29178942|PMID:33691693|PMID:33851411|PMID:9462750 11967875 TULP1 TUB like protein 1 gene DOID:0110189 Leber congenital amaurosis 15 ISO RGD:1322319 D RGD:7240710 20180130 OMIM 11967875 TULP1 TUB like protein 1 gene DOID:0110189 Leber congenital amaurosis 15 ISO RGD:1322319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 15 PMID:10549638|PMID:15024725|PMID:16199547|PMID:17576681|PMID:17962469|PMID:18055821|PMID:18432314|PMID:18936139|PMID:19339744|PMID:21792230|PMID:22665969|PMID:23105016|PMID:23847139|PMID:24265693|PMID:25074776|PMID:25342276|PMID:25692139|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26448634|PMID:28492532|PMID:29641573|PMID:30054919|PMID:30337596|PMID:30950243|PMID:31054281|PMID:31549751|PMID:31736247|PMID:32037395|PMID:33781268|PMID:8606774|PMID:9462750|PMID:9462751|PMID:9536098|PMID:9660588 11967875 TULP1 TUB like protein 1 gene DOID:0110381 retinitis pigmentosa 14 ISO RGD:1322319 D RGD:7240710 20180130 OMIM 11967875 TULP1 TUB like protein 1 gene DOID:0110381 retinitis pigmentosa 14 ISO RGD:1322319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 14 PMID:10440267|PMID:10549638|PMID:15024725|PMID:15557452|PMID:16199547|PMID:17576681|PMID:17620573|PMID:17962469|PMID:18055821|PMID:18432314|PMID:18936139|PMID:21792230|PMID:22665969|PMID:23105016|PMID:23499059|PMID:23591405|PMID:23661368|PMID:25324289|PMID:25342276|PMID:25741868|PMID:26103963|PMID:26355662|PMID:26427415|PMID:26766544|PMID:26856745|PMID:26987071|PMID:27440997|PMID:28127548|PMID:28492532|PMID:28559085|PMID:28981474|PMID:30054919|PMID:30337596|PMID:30718709|PMID:30950243|PMID:32531858|PMID:32901917|PMID:33090715|PMID:33691693|PMID:33921607|PMID:33946315|PMID:8606774|PMID:9462750|PMID:9462751|PMID:9536098|PMID:9660588 11967875 TULP1 TUB like protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1322319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10440267|PMID:10549638|PMID:15024725|PMID:15557452|PMID:17576681|PMID:17962469|PMID:18055821|PMID:18432314|PMID:18936139|PMID:22605927|PMID:23105016|PMID:23847139|PMID:24033266|PMID:24265693|PMID:25324289|PMID:25342276|PMID:25342620|PMID:25692139|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26766544|PMID:28127548|PMID:28492532|PMID:28981474|PMID:29625443|PMID:29843741|PMID:30054919|PMID:30337596|PMID:30718709|PMID:31630094|PMID:32531858|PMID:32901917|PMID:33090715|PMID:33173045|PMID:33576794|PMID:33946315|PMID:8606774|PMID:9462750|PMID:9462751|PMID:9536098|PMID:9660588 11967875 TULP1 TUB like protein 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1322319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:10549638|PMID:15024725|PMID:18055821|PMID:18936139|PMID:23105016|PMID:25342276|PMID:25741868|PMID:26355662|PMID:26766544|PMID:28127548|PMID:28492532|PMID:28981474|PMID:30054919|PMID:30718709|PMID:32531858|PMID:8606774|PMID:9462750|PMID:9660588 11967875 TULP1 TUB like protein 1 gene DOID:630 genetic disease ISO RGD:1322319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11967875 TULP1 TUB like protein 1 gene DOID:8501 fundus dystrophy ISO RGD:1322319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10549638|PMID:15024725|PMID:17576681|PMID:18055821|PMID:18432314|PMID:22605927|PMID:22665969|PMID:24265693|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26427415|PMID:26766544|PMID:28127548|PMID:28492532|PMID:28981474|PMID:29641573|PMID:30337596|PMID:30718709|PMID:31054281|PMID:32531858|PMID:33173045|PMID:33781268|PMID:8606774|PMID:9462750|PMID:9462751|PMID:9536098|PMID:9660588 11967875 TULP1 TUB like protein 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1322319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:10549638|PMID:15024725|PMID:18055821|PMID:18936139|PMID:23105016|PMID:25342276|PMID:25741868|PMID:26355662|PMID:28492532|PMID:30054919|PMID:8606774 11967894 GPX3 glutathione peroxidase 3 gene DOID:0050860 colorectal adenoma ISO RGD:1343858 D RGD:9068941 20220407 RGD mRNA:decreased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 11967894 GPX3 glutathione peroxidase 3 gene DOID:0080199 colorectal carcinoma ISO RGD:1343858 D RGD:9068941 20220407 RGD mRNA:decreased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 11967894 GPX3 glutathione peroxidase 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343858 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11967894 GPX3 glutathione peroxidase 3 gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma treatment ISO RGD:1343858 D RGD:9068941 20220414 RGD associated with ethmoid sinus cancer and Neoplasm Metastasis PMID:29496492|REF_RGD_ID:151708712 11967894 GPX3 glutathione peroxidase 3 gene DOID:10534 stomach cancer ISO RGD:1343858 D RGD:9068941 20220324 RGD protein:decreased expression:stomach (human) PMID:20043075|REF_RGD_ID:151665486 11967894 GPX3 glutathione peroxidase 3 gene DOID:10534 stomach cancer disease_progression ISO RGD:1343858 D RGD:9068941 20220324 RGD protein:decreased expression:stomach (human) PMID:22843889|REF_RGD_ID:151665483 11967894 GPX3 glutathione peroxidase 3 gene DOID:10534 stomach cancer onset ISO RGD:1343858 D RGD:9068941 20220331 RGD DNA:hypermethylation PMID:30924352|REF_RGD_ID:151665514 11967894 GPX3 glutathione peroxidase 3 gene DOID:10534 stomach cancer susceptibility ISO RGD:1343858 D RGD:9068941 20220324 RGD DNA:SNPs:intron 1,3'utr: (rs3805435, rs3828599, rs2070593) (human) PMID:20576521|REF_RGD_ID:151665489 11967894 GPX3 glutathione peroxidase 3 gene DOID:10534 stomach cancer treatment ISO RGD:1343858 D RGD:9068941 20220331 RGD PMID:30114685|REF_RGD_ID:151665512 11967894 GPX3 glutathione peroxidase 3 gene DOID:1062 Fanconi syndrome ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9851889 11967894 GPX3 glutathione peroxidase 3 gene DOID:1184 nephrotic syndrome ISO RGD:1343858 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:12824952|REF_RGD_ID:1625122 11967894 GPX3 glutathione peroxidase 3 gene DOID:1289 neurodegenerative disease ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 11967894 GPX3 glutathione peroxidase 3 gene DOID:1324 lung cancer treatment ISO RGD:1343858 D RGD:9068941 20220414 RGD PMID:26767034|PMID:33255360|REF_RGD_ID:151708705|REF_RGD_ID:151708707 11967894 GPX3 glutathione peroxidase 3 gene DOID:14566 disease of cellular proliferation ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21684681 11967894 GPX3 glutathione peroxidase 3 gene DOID:1993 rectum cancer susceptibility ISO RGD:1343858 D RGD:9068941 20220331 RGD DNA:SNPs: (rs3828599, rs736775, rs8177447) (human) PMID:22371331|REF_RGD_ID:151665750 11967894 GPX3 glutathione peroxidase 3 gene DOID:219 colon cancer disease_progression ISO RGD:737382 D RGD:9068941 20220331 RGD associated with Experimental Colitis PMID:23221387|REF_RGD_ID:151665510 11967894 GPX3 glutathione peroxidase 3 gene DOID:2870 endometrial adenocarcinoma ISO RGD:69224 D RGD:9068941 20200609 RGD mRNA:decreased expression:endometrium (rat) PMID:19426485|REF_RGD_ID:2312621 11967894 GPX3 glutathione peroxidase 3 gene DOID:289 endometriosis ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642|PMID:21063030 11967894 GPX3 glutathione peroxidase 3 gene DOID:299 adenocarcinoma ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 11967894 GPX3 glutathione peroxidase 3 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1343858 D RGD:9068941 20220331 RGD DNA:hypermethylation PMID:25050929|PMID:30018730|REF_RGD_ID:151665494|REF_RGD_ID:151665741 11967894 GPX3 glutathione peroxidase 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1343858 D RGD:9068941 20220414 RGD mRNA:decreased expression:lung (human) PMID:23374247|REF_RGD_ID:151708716 11967894 GPX3 glutathione peroxidase 3 gene DOID:4914 esophagus adenocarcinoma susceptibility ISO RGD:1343858 D RGD:9068941 20220630 RGD DNA:SNPs:intron: (rs4958872, rs3792797) (human) PMID:22715394|REF_RGD_ID:152995500 11967894 GPX3 glutathione peroxidase 3 gene DOID:4948 gallbladder carcinoma severity ISO RGD:1343858 D RGD:9068941 20220331 RGD protein:decreased expression:gallbladder (human) PMID:24167362|REF_RGD_ID:151665515 11967894 GPX3 glutathione peroxidase 3 gene DOID:5041 esophageal cancer treatment ISO RGD:1343858 D RGD:9068941 20220407 RGD DNA:hypermethylation PMID:33292587|REF_RGD_ID:151665781 11967894 GPX3 glutathione peroxidase 3 gene DOID:630 genetic disease ISO RGD:1343858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11967894 GPX3 glutathione peroxidase 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1343858 D RGD:9068941 20220331 RGD DNA:hypermethylation PMID:25445749|REF_RGD_ID:151665509 11967894 GPX3 glutathione peroxidase 3 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1343858 D RGD:9068941 20220324 RGD mRNA,protein:decreased expression:liver, blood plasma (human) PMID:25333265|REF_RGD_ID:151665355 11967894 GPX3 glutathione peroxidase 3 gene DOID:7941 Barrett's adenocarcinoma ISO RGD:1343858 D RGD:9068941 20220324 RGD DNA:hypermethylation PMID:16229808|REF_RGD_ID:151665354 11967894 GPX3 glutathione peroxidase 3 gene DOID:7941 Barrett's adenocarcinoma ISO RGD:1343858 D RGD:9068941 20220630 RGD DNA:hypermethylation:promoter PMID:18664505|REF_RGD_ID:151665749 11967894 GPX3 glutathione peroxidase 3 gene DOID:850 lung disease ISO RGD:69224 D RGD:9068941 20200609 RGD mRNA:decreased expression:pneumocyte (rat) PMID:16049373|REF_RGD_ID:2312626 11967894 GPX3 glutathione peroxidase 3 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1343858 D RGD:9068941 20220324 RGD associated with stomach carcinoma; DNA:hypermethylation:promoter PMID:23071548|REF_RGD_ID:151665353 11967894 GPX3 glutathione peroxidase 3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1343858 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:serum (human) PMID:17269729|REF_RGD_ID:2312635 11967894 GPX3 glutathione peroxidase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17804715 11967894 GPX3 glutathione peroxidase 3 gene DOID:9005172 Lung Neoplasms ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19180532|PMID:21552421 11967894 GPX3 glutathione peroxidase 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343858 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11967894 GPX3 glutathione peroxidase 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20195826 11967894 GPX3 glutathione peroxidase 3 gene DOID:9007692 Insulin Resistance ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270708 11967894 GPX3 glutathione peroxidase 3 gene DOID:9206 Barrett's esophagus ISO RGD:1343858 D RGD:9068941 20220630 RGD DNA:hypermethylation:promoter PMID:18664505|REF_RGD_ID:151665749 11967894 GPX3 glutathione peroxidase 3 gene DOID:9351 diabetes mellitus ISO RGD:737382 D RGD:9068941 20200609 RGD PMID:18562625|REF_RGD_ID:2312633 11967894 GPX3 glutathione peroxidase 3 gene DOID:9351 diabetes mellitus ISO RGD:737382 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle (mouse) PMID:18936159|REF_RGD_ID:2312632 11967894 GPX3 glutathione peroxidase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343858 D RGD:9068941 20200609 RGD PMID:18936159|REF_RGD_ID:2312632 11967894 GPX3 glutathione peroxidase 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1343858 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (human) PMID:16489975|REF_RGD_ID:2312634 11967894 GPX3 glutathione peroxidase 3 gene DOID:9970 obesity ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11328671|PMID:19270708 11967894 GPX3 glutathione peroxidase 3 gene DOID:9970 obesity ISO RGD:69224 D RGD:9068941 20200609 RGD mRNA:decreased expression:adipose tissue (rat) PMID:19212806|REF_RGD_ID:2307430 11967894 GPX3 glutathione peroxidase 3 gene DOID:9970 obesity ISO RGD:737382 D RGD:9068941 20200609 RGD protein:decreased expression, activity:plasma (mouse) PMID:18562625|REF_RGD_ID:2312633 11967894 Gpx3 glutathione peroxidase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69224 D RGD:9068941 20200609 RGD PMID:12753302|REF_RGD_ID:2312629 11967894 Gpx3 glutathione peroxidase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737382 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (mouse) PMID:16651743|REF_RGD_ID:2312631 11967903 LOC100995951 protein SSX3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11967903 LOC100995951 protein SSX3 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1345829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 11967903 LOC100995951 protein SSX3 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1345829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11967903 LOC100995951 protein SSX3 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1345829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11967903 LOC100995951 protein SSX3 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1345829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11967903 LOC100995951 protein SSX3 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1345829 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 11967903 LOC100995951 protein SSX3 gene DOID:12849 autistic disorder ISO RGD:1345829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11967903 LOC100995951 protein SSX3 gene DOID:630 genetic disease ISO RGD:1345829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11967967 LAMTOR5 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1312775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 11967967 LAMTOR5 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1312775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11967967 LAMTOR5 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 gene DOID:10603 glucose intolerance ISO RGD:1312775 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29259128 11967967 LAMTOR5 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 gene DOID:12849 autistic disorder ISO RGD:1312775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11967967 LAMTOR5 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 gene DOID:630 genetic disease ISO RGD:1312775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11967967 LAMTOR5 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 gene DOID:9008939 Breast Neoplasms ISO RGD:1312775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26229107 11967976 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:1344590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lennox-Gastaut syndrome PMID:22539854|PMID:22750526|PMID:24407264|PMID:25741868|PMID:27066572|PMID:28492532 11967976 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:0060170 generalized epilepsy with febrile seizures plus ISO RGD:1344590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus 11967976 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1344590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25741868|PMID:28492532|PMID:33391346 11967976 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:0080422 Dravet syndrome ISO RGD:1344590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy 11967976 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1344590 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25741868|PMID:28492532|PMID:33391346 11967976 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:0111298 familial febrile seizures 8 ISO RGD:1344590 D RGD:7240710 20190605 OMIM 11967976 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:0111298 familial febrile seizures 8 ISO RGD:1344590 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CONVULSIONS, FAMILIAL FEBRILE, 8 | ClinVar Annotator: match by term: Febrile seizures, familial, 8 PMID:11326274|PMID:11326275|PMID:11748509|PMID:12097483|PMID:12117362|PMID:15342642|PMID:15470132|PMID:15866052|PMID:16510738|PMID:16924025|PMID:17148443|PMID:17576681|PMID:18094250|PMID:22539854|PMID:22750526|PMID:23708187|PMID:23935098|PMID:24407264|PMID:25726841|PMID:25730860|PMID:25731747|PMID:25741868|PMID:26467025|PMID:27730413|PMID:27864268|PMID:28460589|PMID:28492532|PMID:29100083|PMID:29358611|PMID:31175295|PMID:31216405|PMID:33391346|PMID:9536098|PMID:9894880 11967976 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:0112210 developmental and epileptic encephalopathy 74 ISO RGD:1344590 D RGD:7240710 20190515 OMIM 11967976 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:0112210 developmental and epileptic encephalopathy 74 ISO RGD:1344590 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 74 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74 PMID:22539854|PMID:22750526|PMID:23708187|PMID:24407264|PMID:25726841|PMID:25730860|PMID:25741868|PMID:26467025|PMID:27730413|PMID:27864268|PMID:28460589|PMID:28492532|PMID:29100083|PMID:29358611|PMID:29778030|PMID:31216405|PMID:31785789|PMID:32371413 11967976 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:10485 esophageal atresia ISO RGD:1344590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 11967976 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:1059 intellectual disability ISO RGD:1344590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23708187|PMID:25741868|PMID:27864268|PMID:28492532 11967976 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:13413 hepatic encephalopathy ISO RGD:1344590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15929193 11967976 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:13413 hepatic encephalopathy ISO RGD:61966 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:15929193|REF_RGD_ID:6480237 11967976 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:1574 alcohol use disorder ISO RGD:1344590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 11967976 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:1825 childhood absence epilepsy ISO RGD:1344590 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS6+2T>G (human) PMID:12117362|REF_RGD_ID:1358631 11967976 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:1826 epilepsy ISO RGD:1344590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizures PMID:23708187|PMID:25726841|PMID:25730860|PMID:27864268|PMID:28492532|PMID:29100083|PMID:29358611 11967976 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:1826 epilepsy ISO RGD:1344590 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11967976 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:16718694|PMID:22190369|PMID:24811917|PMID:28492532 11967976 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1344590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:17576681|PMID:23708187|PMID:25726841|PMID:25730860|PMID:27864268|PMID:28492532|PMID:29100083|PMID:29358611|PMID:9536098 11967976 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:630 genetic disease ISO RGD:1344590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11326274|PMID:11326275|PMID:11748509|PMID:12097483|PMID:12477709|PMID:15470132|PMID:16924025|PMID:17947380|PMID:20485450|PMID:20551311|PMID:22539854|PMID:22750526|PMID:23708187|PMID:24407264|PMID:24480790|PMID:24798517|PMID:25726841|PMID:25730860|PMID:25731747|PMID:25741868|PMID:26467025|PMID:27066572|PMID:27340224|PMID:27367160|PMID:27622563|PMID:27730413|PMID:27864268|PMID:27899622|PMID:28460589|PMID:28492532|PMID:29100083|PMID:29358611|PMID:29950725|PMID:30660939|PMID:31216405|PMID:32086284 11967976 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:670 amphetamine abuse ISO RGD:1344590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15772696 11967976 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:9002914 Familial Sudden Death ISO RGD:1344590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death in childhood PMID:25741868 11967976 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:9005485 Generalized Epilepsy with Febrile Seizures Plus, Type 3 ISO RGD:1344590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 3 PMID:23708187|PMID:25726841|PMID:25730860|PMID:27864268|PMID:28492532|PMID:29100083|PMID:29358611 11967976 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1344590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 11967976 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:9007956 Febrile Seizures ISO RGD:1344590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25362483 11967976 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:9009061 Childhood Absence Epilepsy 2 ISO RGD:1344590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence 2 | ClinVar Annotator: match by term: GABRG2-Related Disorder PMID:11326274|PMID:11326275|PMID:11748509|PMID:12097483|PMID:12117362|PMID:12477709|PMID:15342642|PMID:15470132|PMID:15866052|PMID:16199547|PMID:16510738|PMID:16924025|PMID:17148443|PMID:17576681|PMID:17947380|PMID:18094250|PMID:18414213|PMID:18566737|PMID:19261880|PMID:20485450|PMID:20551311|PMID:21714819|PMID:22190369|PMID:22539854|PMID:22750526|PMID:23708187|PMID:23720301|PMID:23935098|PMID:24407264|PMID:24480790|PMID:24798517|PMID:24811917|PMID:24848745|PMID:24874541|PMID:25640679|PMID:25726841|PMID:25730860|PMID:25731747|PMID:25741868|PMID:26005849|PMID:26467025|PMID:26633542|PMID:27066572|PMID:27334371|PMID:27340224|PMID:27367160|PMID:27622563|PMID:27730413|PMID:27762395|PMID:27864268|PMID:27899622|PMID:28460589|PMID:28492532|PMID:29100083|PMID:29358611|PMID:29655203|PMID:29778030|PMID:29950725|PMID:30557390|PMID:30660939|PMID:31004928|PMID:31175295|PMID:31216405|PMID:31471553|PMID:31785789|PMID:32086284|PMID:32371413|PMID:33004838|PMID:33391346|PMID:9536098 11967991 CETN3 centrin 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733085 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11967991 CETN3 centrin 3 gene DOID:630 genetic disease ISO RGD:733085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11967991 CETN3 centrin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11967991 CETN3 centrin 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733085 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11968009 RAB20 RAB20, member RAS oncogene family gene DOID:0080600 COVID-19 ISO RGD:1315116 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11968009 RAB20 RAB20, member RAS oncogene family gene DOID:2222 factor X deficiency ISO RGD:1315116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 11968009 RAB20 RAB20, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1315116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11968009 RAB20 RAB20, member RAS oncogene family gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1315116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11968015 RHOH ras homolog family member H gene DOID:0060019 coronin-1A deficiency ISO RGD:1316925 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis PMID:25741868|PMID:28492532 11968015 RHOH ras homolog family member H gene DOID:630 genetic disease ISO RGD:1316925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11968015 RHOH ras homolog family member H gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1316925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 11968015 RHOH ras homolog family member H gene DOID:9001570 Epidermodysplasia Verruciformis 4 ISO RGD:1316925 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4 PMID:22850876|PMID:25741868|PMID:28492532 11968015 RHOH ras homolog family member H gene DOID:9001570 Epidermodysplasia Verruciformis 4 susceptibility ISO RGD:1316925 D RGD:7240710 20190502 OMIM 11968027 GATB glutamyl-tRNA amidotransferase subunit B gene DOID:0112119 combined oxidative phosphorylation deficiency 41 ISO RGD:1317305 D RGD:7240710 20200520 OMIM 11968027 GATB glutamyl-tRNA amidotransferase subunit B gene DOID:0112119 combined oxidative phosphorylation deficiency 41 ISO RGD:1317305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 41 PMID:25741868|PMID:30283131 11968027 GATB glutamyl-tRNA amidotransferase subunit B gene DOID:630 genetic disease ISO RGD:1317305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11968027 GATB glutamyl-tRNA amidotransferase subunit B gene DOID:9000777 Mitochondrial Cardiomyopathy ISO RGD:1317305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, mitochondrial PMID:30283131 11968047 RBM45 RNA binding motif protein 45 gene DOID:630 genetic disease ISO RGD:730942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11968063 CYFIP2 cytoplasmic FMR1 interacting protein 2 gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1312845 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 11968063 CYFIP2 cytoplasmic FMR1 interacting protein 2 gene DOID:0080430 developmental and epileptic encephalopathy 65 ISO RGD:1312845 D RGD:7240710 20190315 OMIM 11968063 CYFIP2 cytoplasmic FMR1 interacting protein 2 gene DOID:0080430 developmental and epileptic encephalopathy 65 ISO RGD:1312845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 65 PMID:21107423|PMID:25741868|PMID:25741869|PMID:25741870|PMID:26582918|PMID:28492532|PMID:29534297|PMID:29667327|PMID:30664714 11968063 CYFIP2 cytoplasmic FMR1 interacting protein 2 gene DOID:1059 intellectual disability ISO RGD:1312845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:30664714 11968063 CYFIP2 cytoplasmic FMR1 interacting protein 2 gene DOID:1826 epilepsy ISO RGD:1312845 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:29667327|PMID:30664714 11968063 CYFIP2 cytoplasmic FMR1 interacting protein 2 gene DOID:630 genetic disease ISO RGD:1312845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:29667327|PMID:30664714 11968063 CYFIP2 cytoplasmic FMR1 interacting protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1312845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741870|PMID:30664714 11968101 SP8 Sp8 transcription factor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11968101 SP8 Sp8 transcription factor gene DOID:630 genetic disease ISO RGD:1316919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11968108 AUNIP aurora kinase A and ninein interacting protein gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1601974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 11968108 AUNIP aurora kinase A and ninein interacting protein gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1601974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 11968108 AUNIP aurora kinase A and ninein interacting protein gene DOID:630 genetic disease ISO RGD:1601974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11968116 ATG4A autophagy related 4A cysteine peptidase gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1604759 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 11968116 ATG4A autophagy related 4A cysteine peptidase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11968116 ATG4A autophagy related 4A cysteine peptidase gene DOID:0110034 X-linked Alport syndrome ISO RGD:1604759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked Alport syndrome 11968116 ATG4A autophagy related 4A cysteine peptidase gene DOID:12849 autistic disorder ISO RGD:1604759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11968116 ATG4A autophagy related 4A cysteine peptidase gene DOID:630 genetic disease ISO RGD:1604759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11968140 TEKT3 tektin 3 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1321573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:1303230|PMID:1677316|PMID:1822787|PMID:28492532 11968140 TEKT3 tektin 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1321573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:23044707|PMID:25741868|PMID:27569545 11968140 TEKT3 tektin 3 gene DOID:0110148 Charcot-Marie-Tooth disease type 1A ISO RGD:1321573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA PMID:25741868 11968140 TEKT3 tektin 3 gene DOID:12849 autistic disorder ISO RGD:1321573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11968140 TEKT3 tektin 3 gene DOID:5419 schizophrenia ISO RGD:1321573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11968140 TEKT3 tektin 3 gene DOID:630 genetic disease ISO RGD:1321573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11968140 TEKT3 tektin 3 gene DOID:9003963 Spermatogenic Failure 81 ISO RGD:1321573 D RGD:7240710 20230505 OMIM 11968140 TEKT3 tektin 3 gene DOID:9003963 Spermatogenic Failure 81 ISO RGD:1321573 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 81 PMID:36708031 11968156 LINC02897 long intergenic non-protein coding RNA 2897 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1603331 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11968156 LINC02897 long intergenic non-protein coding RNA 2897 gene DOID:13938 amenorrhea ISO RGD:1603331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11968156 LINC02897 long intergenic non-protein coding RNA 2897 gene DOID:1540 parathyroid carcinoma ISO RGD:1603331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11968156 LINC02897 long intergenic non-protein coding RNA 2897 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11968160 MYH13 myosin heavy chain 13 gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:737050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 11968160 MYH13 myosin heavy chain 13 gene DOID:630 genetic disease ISO RGD:737050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11968160 MYH13 myosin heavy chain 13 gene DOID:8398 osteoarthritis ISO RGD:737050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11968207 PLA2R1 phospholipase A2 receptor 1 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1350138 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868 11968207 PLA2R1 phospholipase A2 receptor 1 gene DOID:12849 autistic disorder ISO RGD:1350138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 11968207 PLA2R1 phospholipase A2 receptor 1 gene DOID:303 substance-related disorder ISO RGD:1350138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11968207 PLA2R1 phospholipase A2 receptor 1 gene DOID:557 kidney disease ISO RGD:1350138 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868 11968207 PLA2R1 phospholipase A2 receptor 1 gene DOID:630 genetic disease ISO RGD:1350138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11968241 INSR insulin receptor gene DOID:0050470 Donohue syndrome ISO RGD:69029 D RGD:7240710 20180130 OMIM 11968241 INSR insulin receptor gene DOID:0050470 Donohue syndrome ISO RGD:69029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Donohue syndrome | ClinVar Annotator: match by term: Leprechaunism | ClinVar Annotator: match by term: Leprechaunism syndrome PMID:10084586|PMID:10933564|PMID:11463381|PMID:12023989|PMID:12970295|PMID:1315125|PMID:1607067|PMID:1657953|PMID:1730625|PMID:19135752|PMID:2002058|PMID:2040394|PMID:2211730|PMID:22775283|PMID:2300553|PMID:2365819|PMID:24033266|PMID:24498630|PMID:2479553|PMID:25741868|PMID:26874853|PMID:27840822|PMID:27896077|PMID:2834824|PMID:28492532|PMID:29369573|PMID:2983222|PMID:30663027|PMID:31989990|PMID:3280314|PMID:7042734|PMID:7657032|PMID:7693131|PMID:7815442|PMID:8101305|PMID:8188715|PMID:8257688|PMID:8314008|PMID:8326490|PMID:8419945|PMID:8432414|PMID:8900242 11968241 INSR insulin receptor gene DOID:0050700 cardiomyopathy ISO RGD:10813 D RGD:9068941 20200609 RGD PMID:11877471|REF_RGD_ID:1302524 11968241 INSR insulin receptor gene DOID:0060041 autism spectrum disorder ISO RGD:69029 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11968241 INSR insulin receptor gene DOID:0060071 pre-malignant neoplasm ISO RGD:2917 D RGD:9068941 20200609 RGD associated with Carcinoma, Hepatocellular PMID:21411721|REF_RGD_ID:10403043 11968241 INSR insulin receptor gene DOID:0060346 Native American myopathy ISO RGD:69029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA PMID:10084586|PMID:11463381|PMID:2040394|PMID:25741868|PMID:27896077|PMID:28492532|PMID:8432414|PMID:8900242 11968241 INSR insulin receptor gene DOID:0070215 familial hyperinsulinemic hypoglycemia 4 ISO RGD:69029 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 | ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency PMID:15161766|PMID:19135752|PMID:2002058|PMID:25741868|PMID:27896077|PMID:28492532|PMID:7042734|PMID:8288049 11968241 INSR insulin receptor gene DOID:0070215 familial hyperinsulinemic hypoglycemia 4 ISO RGD:69029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency PMID:15161766|PMID:19135752|PMID:2002058|PMID:25741868|PMID:26874853|PMID:27840822|PMID:27896077|PMID:28492532|PMID:30663027|PMID:7042734|PMID:8288049 11968241 INSR insulin receptor gene DOID:0070220 familial hyperinsulinemic hypoglycemia 5 ISO RGD:69029 D RGD:7240710 20180130 OMIM 11968241 INSR insulin receptor gene DOID:0070220 familial hyperinsulinemic hypoglycemia 5 ISO RGD:69029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 5 | ClinVar Annotator: match by term: Hyperinsulinism due to INSR deficiency PMID:15161766|PMID:19135752|PMID:2002058|PMID:25741868|PMID:26874853|PMID:27840822|PMID:27896077|PMID:28492532|PMID:30663027|PMID:7042734|PMID:8288049 11968241 INSR insulin receptor gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:10813 D RGD:9068941 20200609 RGD DNA:deletion:cds: (codon 306, exon 4) (mouse) PMID:28468951|REF_RGD_ID:14700929 11968241 INSR insulin receptor gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:2917 D RGD:9068941 20200609 RGD DNA:deletion:cds:codon 306 in exon 4 (mouse) PMID:28468951|REF_RGD_ID:14700929 11968241 INSR insulin receptor gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:2917 D RGD:9068941 20200609 RGD PMID:29325294|REF_RGD_ID:14700932 11968241 INSR insulin receptor gene DOID:0080490 mucolipidosis type IV ISO RGD:69029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11968241 INSR insulin receptor gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:69029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10084586|PMID:11463381|PMID:1607076|PMID:2040394|PMID:25741868|PMID:27896077|PMID:28492532|PMID:31989990|PMID:7814014|PMID:8432414|PMID:8900242 11968241 INSR insulin receptor gene DOID:10485 esophageal atresia ISO RGD:69029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 11968241 INSR insulin receptor gene DOID:10603 glucose intolerance ISO RGD:10813 D RGD:9068941 20200609 RGD PMID:10949030|REF_RGD_ID:1302523 11968241 INSR insulin receptor gene DOID:10603 glucose intolerance ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10949030 11968241 INSR insulin receptor gene DOID:10605 short bowel syndrome treatment ISO RGD:2917 D RGD:9068941 20200609 RGD PMID:19847442|REF_RGD_ID:10403044 11968241 INSR insulin receptor gene DOID:10652 Alzheimer's disease ISO RGD:2917 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:16627931|REF_RGD_ID:5509963 11968241 INSR insulin receptor gene DOID:10652 Alzheimer's disease ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24055495 11968241 INSR insulin receptor gene DOID:10652 Alzheimer's disease ISO RGD:69029 D RGD:9068941 20200609 RGD protein:altered localization:brain, neuron PMID:18479783|REF_RGD_ID:10045894 11968241 INSR insulin receptor gene DOID:10652 Alzheimer's disease treatment ISO RGD:10813 D RGD:9068941 20200609 RGD PMID:23011726|REF_RGD_ID:10403036 11968241 INSR insulin receptor gene DOID:11712 lipoatrophic diabetes mellitus ISO RGD:10813 D RGD:9068941 20200609 RGD PMID:14722613|REF_RGD_ID:1302525 11968241 INSR insulin receptor gene DOID:11714 gestational diabetes ISO RGD:2917 D RGD:9068941 20200609 RGD PMID:22241286|REF_RGD_ID:10046048 11968241 INSR insulin receptor gene DOID:11714 gestational diabetes ISO RGD:69029 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:placenta (human) PMID:19179458|REF_RGD_ID:2307336 11968241 INSR insulin receptor gene DOID:12217 Lewy body dementia ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 11968241 INSR insulin receptor gene DOID:13413 hepatic encephalopathy ISO RGD:2917 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus, cerebral cortex (rat) PMID:28505381|REF_RGD_ID:14700777 11968241 INSR insulin receptor gene DOID:14330 Parkinson's disease ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 11968241 INSR insulin receptor gene DOID:1612 breast cancer ISO RGD:69029 D RGD:9068941 20200609 RGD protein:increased expression:tumor:four-fold higher vs normal breast tissue PMID:8518410|REF_RGD_ID:2290465 11968241 INSR insulin receptor gene DOID:1612 breast cancer severity ISO RGD:69029 D RGD:9068941 20200609 RGD protein:increased expression:tumor:higher expression associated with favorable prognostic markers and increased disease-free survival (P=0.027) PMID:17221153|REF_RGD_ID:2290447 11968241 INSR insulin receptor gene DOID:1837 diabetic ketoacidosis ISO RGD:10813 D RGD:9068941 20200609 RGD PMID:15254588|REF_RGD_ID:1302526 11968241 INSR insulin receptor gene DOID:2018 hyperinsulinism ISO RGD:10813 D RGD:9068941 20200609 RGD PMID:10949030|REF_RGD_ID:1302523 11968241 INSR insulin receptor gene DOID:2018 hyperinsulinism ISO RGD:10813 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.P1195L (mouse) PMID:21549686|REF_RGD_ID:10403034 11968241 INSR insulin receptor gene DOID:2018 hyperinsulinism ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10949030|PMID:18411068 11968241 INSR insulin receptor gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:69029 D RGD:9068941 20200609 RGD PMID:26452103|REF_RGD_ID:13504753 11968241 INSR insulin receptor gene DOID:303 substance-related disorder ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11968241 INSR insulin receptor gene DOID:3594 choriocarcinoma disease_progression ISO RGD:69029 D RGD:9068941 20200609 RGD protein:increased activity:tumor:IGF-II increased choriocarcinoma cell invasion via activation of INSR PMID:17556377|REF_RGD_ID:2290454 11968241 INSR insulin receptor gene DOID:3827 congenital diaphragmatic hernia ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21433279 11968241 INSR insulin receptor gene DOID:4195 hyperglycemia ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18056790 11968241 INSR insulin receptor gene DOID:4440 seminoma ISO RGD:69029 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:isoform B PMID:15967097|REF_RGD_ID:2290460 11968241 INSR insulin receptor gene DOID:4450 renal cell carcinoma ISO RGD:69029 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:isoform A PMID:15753986|REF_RGD_ID:2290462 11968241 INSR insulin receptor gene DOID:630 genetic disease ISO RGD:69029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:2211730|PMID:25741868|PMID:26874853|PMID:27840822|PMID:28492532|PMID:2983222|PMID:30663027|PMID:8257688 11968241 INSR insulin receptor gene DOID:684 hepatocellular carcinoma ISO RGD:2917 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:29610518|REF_RGD_ID:14700930 11968241 INSR insulin receptor gene DOID:684 hepatocellular carcinoma ISO RGD:2917 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (human, rat) PMID:23633480|REF_RGD_ID:9685423 11968241 INSR insulin receptor gene DOID:684 hepatocellular carcinoma ISO RGD:69029 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (human, rat) PMID:23633480|REF_RGD_ID:9685423 11968241 INSR insulin receptor gene DOID:784 chronic kidney disease ISO RGD:2917 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:aorta PMID:22942179|REF_RGD_ID:7207055 11968241 INSR insulin receptor gene DOID:811 lipodystrophy ISO RGD:10813 D RGD:9068941 20200609 RGD PMID:14722613|REF_RGD_ID:1302525 11968241 INSR insulin receptor gene DOID:850 lung disease ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20438933|PMID:21433279 11968241 INSR insulin receptor gene DOID:8947 diabetic retinopathy ISO RGD:10813 D RGD:9068941 20220825 MouseDO 11968241 INSR insulin receptor gene DOID:9001586 Experimental Liver Neoplasms disease_progression ISO RGD:2917 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:cytoplasm,liver (rat) PMID:15520221|REF_RGD_ID:2306052 11968241 INSR insulin receptor gene DOID:9001751 Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans ISO RGD:69029 D RGD:7240710 20180130 OMIM 11968241 INSR insulin receptor gene DOID:9001751 Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans ISO RGD:69029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS, TYPE A | ClinVar Annotator: match by term: IRAN, TYPE A PMID:10084586|PMID:10933564|PMID:11463381|PMID:13302174|PMID:15161766|PMID:1644241|PMID:19135752|PMID:1963473|PMID:1971035|PMID:2002058|PMID:2040394|PMID:2121734|PMID:2203761|PMID:2211730|PMID:22775283|PMID:2365819|PMID:24033266|PMID:2460770|PMID:2544998|PMID:25741868|PMID:2662406|PMID:26874853|PMID:27840822|PMID:27896077|PMID:28492532|PMID:2859121|PMID:2983222|PMID:30663027|PMID:31989990|PMID:3283938|PMID:3384956|PMID:3510919|PMID:6339538|PMID:7042734|PMID:7657032|PMID:8096518|PMID:8257688|PMID:8288049|PMID:8314008|PMID:8432414|PMID:8900242 11968241 INSR insulin receptor gene DOID:9001863 PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES ISO RGD:69029 D RGD:7240710 20190918 OMIM 11968241 INSR insulin receptor gene DOID:9001863 PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES ISO RGD:69029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mendenhall Syndrome | ClinVar Annotator: match by term: Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities | ClinVar Annotator: match by term: Rabson-Mendenhall syndrome PMID:10084586|PMID:10933564|PMID:11463381|PMID:19135752|PMID:2002058|PMID:2040394|PMID:2121734|PMID:2211730|PMID:2233914|PMID:22775283|PMID:2365819|PMID:23969187|PMID:24033266|PMID:25358339|PMID:25741868|PMID:26691667|PMID:26874853|PMID:27840822|PMID:27896077|PMID:28492532|PMID:29082893|PMID:2983222|PMID:30663027|PMID:31989990|PMID:3721065|PMID:7042734|PMID:7657032|PMID:8257688|PMID:8314008|PMID:8432414|PMID:8900242|PMID:9249867|PMID:9449692 11968241 INSR insulin receptor gene DOID:9002211 Hyperalgesia ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18331706 11968241 INSR insulin receptor gene DOID:9002211 Hyperalgesia treatment ISO RGD:10813 D RGD:9068941 20200609 RGD associated with Diabetic Neuropathies PMID:23511693|REF_RGD_ID:10403050 11968241 INSR insulin receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:69029 D RGD:9068941 20200609 RGD protein:increased expression:LNCaP tumors:increased tumor size and INSR levels in human tumor cells injected subcutaneously into mice on a high carbohydrate-high fat diet PMID:18042933|REF_RGD_ID:2290446 11968241 INSR insulin receptor gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:69029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 11968241 INSR insulin receptor gene DOID:9004086 AIDS Dementia Complex severity ISO RGD:69029 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid, plasma PMID:22629383|REF_RGD_ID:10403033 11968241 INSR insulin receptor gene DOID:9004989 Protein Deficiency treatment ISO RGD:2917 D RGD:9068941 20200609 RGD PMID:19880292|REF_RGD_ID:4107735 11968241 INSR insulin receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2917 D RGD:9068941 20200609 RGD associated with streptozocin;protein:altered activity:liver plasma membrane (rat) PMID:2180315|REF_RGD_ID:14981592 11968241 INSR insulin receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2917 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, adipose tissue (rat) PMID:18638371|REF_RGD_ID:2307025 11968241 INSR insulin receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2917 D RGD:9068941 20200609 RGD protein:decreased expression:erythrocyte (rat) PMID:18376071|REF_RGD_ID:2307339 11968241 INSR insulin receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2917 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:17855644|REF_RGD_ID:2290475 11968241 INSR insulin receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138235|PMID:9243097 11968241 INSR insulin receptor gene DOID:9005643 Experimental Diabetes Mellitus disease_progression ISO RGD:2917 D RGD:9068941 20200609 RGD mRNA:increased expression:liver nuclei, liver cell membrane (rat) PMID:1280238|REF_RGD_ID:15036814 11968241 INSR insulin receptor gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:69029 D RGD:9068941 20200609 RGD PMID:23874448|REF_RGD_ID:10403045 11968241 INSR insulin receptor gene DOID:9007692 Insulin Resistance ISO RGD:69029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Insulin resistance | ClinVar Annotator: match by term: Insulin-resistance syndrome type A PMID:10084586|PMID:10933564|PMID:11463381|PMID:1314826|PMID:13302174|PMID:15161766|PMID:1644241|PMID:1890161|PMID:19135752|PMID:1963473|PMID:1971035|PMID:2002058|PMID:2040394|PMID:2121734|PMID:2203761|PMID:2211730|PMID:22775283|PMID:2365819|PMID:24033266|PMID:2460770|PMID:2544998|PMID:25741868|PMID:2662406|PMID:26874853|PMID:27840822|PMID:27896077|PMID:28492532|PMID:2859121|PMID:2983222|PMID:30663027|PMID:31989990|PMID:3283938|PMID:3384956|PMID:3510919|PMID:6339538|PMID:7042734|PMID:7657032|PMID:8096518|PMID:8202531|PMID:8257688|PMID:8288049|PMID:8314008|PMID:8432414|PMID:8900242 11968241 INSR insulin receptor gene DOID:9007692 Insulin Resistance disease_progression ISO RGD:2917 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver (rat) PMID:26300412|REF_RGD_ID:11529553 11968241 INSR insulin receptor gene DOID:9007692 Insulin Resistance treatment ISO RGD:2917 D RGD:9068941 20200609 RGD PMID:23538485|REF_RGD_ID:10403037 11968241 INSR insulin receptor gene DOID:9351 diabetes mellitus ISO RGD:69029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10084586|PMID:11463381|PMID:2040394|PMID:2211730|PMID:25741868|PMID:26874853|PMID:27840822|PMID:27896077|PMID:28492532|PMID:2983222|PMID:30663027|PMID:8257688|PMID:8432414|PMID:8900242 11968241 INSR insulin receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:69029 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Insulin-resistant diabetes mellitus | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10084586|PMID:11463381|PMID:1607076|PMID:1845971|PMID:2040394|PMID:25741868|PMID:27896077|PMID:28492532|PMID:2884728|PMID:31989990|PMID:4413914|PMID:7814014|PMID:8432414|PMID:8900242 11968241 INSR insulin receptor gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:10813 D RGD:9068941 20200609 RGD PMID:19224872|REF_RGD_ID:2307335 11968241 INSR insulin receptor gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:2917 D RGD:9068941 20200609 RGD PMID:19251743|PMID:23700236|REF_RGD_ID:10403046|REF_RGD_ID:2307334 11968241 INSR insulin receptor gene DOID:9452 fatty liver disease ISO RGD:2917 D RGD:9068941 20200609 RGD protein:decreased phosphorylation: liver (rat) PMID:22546076|REF_RGD_ID:14700935 11968241 INSR insulin receptor gene DOID:9452 fatty liver disease treatment ISO RGD:2917 D RGD:9068941 20200609 RGD PMID:25160038|REF_RGD_ID:14700926 11968241 INSR insulin receptor gene DOID:9452 fatty liver disease treatment ISO RGD:2917 D RGD:9068941 20200609 RGD associated with obesity;human gene in mouse model PMID:30642871|REF_RGD_ID:14701028 11968241 INSR insulin receptor gene DOID:9743 diabetic neuropathy ISO RGD:2917 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased phosphorylation:sciatic nerve PMID:18331706|REF_RGD_ID:2307344 11968241 INSR insulin receptor gene DOID:9743 diabetic neuropathy ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18331706 11968266 UTP3 UTP3 small subunit processome component gene DOID:630 genetic disease ISO RGD:1603977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11968266 UTP3 UTP3 small subunit processome component gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1603977 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11968311 CD8B CD8 subunit beta gene DOID:630 genetic disease ISO RGD:736307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11968311 CD8B CD8 subunit beta gene DOID:676 juvenile rheumatoid arthritis ISO RGD:736307 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11968324 PIGV phosphatidylinositol glycan anchor biosynthesis class V gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1349310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 11968324 PIGV phosphatidylinositol glycan anchor biosynthesis class V gene DOID:630 genetic disease ISO RGD:1349310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1724113|PMID:20578257|PMID:20802478|PMID:21739589|PMID:22228761|PMID:22315194|PMID:24033266|PMID:24129430|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28688840|PMID:28817240 11968324 PIGV phosphatidylinositol glycan anchor biosynthesis class V gene DOID:9002100 Hyperphosphatasia with Mental Retardation Syndrome 1 ISO RGD:1349310 D RGD:7240710 20180130 OMIM 11968324 PIGV phosphatidylinositol glycan anchor biosynthesis class V gene DOID:9002100 Hyperphosphatasia with Mental Retardation Syndrome 1 ISO RGD:1349310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 PMID:1724113|PMID:17351347|PMID:20578257|PMID:20802478|PMID:21739589|PMID:22228761|PMID:22315194|PMID:24033266|PMID:24129430|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28688840 11968324 PIGV phosphatidylinositol glycan anchor biosynthesis class V gene DOID:9005046 Hyperphosphatasia with Impaired Intellectual Development Syndrome ISO RGD:1349310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome PMID:1724113|PMID:20578257|PMID:20802478|PMID:21739589|PMID:22228761|PMID:22315194|PMID:24033266|PMID:24129430|PMID:25741868|PMID:28492532|PMID:28688840 11968324 PIGV phosphatidylinositol glycan anchor biosynthesis class V gene DOID:9005421 Paget Disease of Bone 5, Juvenile-Onset ISO RGD:1349310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Elevated alkaline phosphatase PMID:28492532 11968350 ZBTB24 zinc finger and BTB domain containing 24 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1315856 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 11968350 ZBTB24 zinc finger and BTB domain containing 24 gene DOID:0090009 immunodeficiency-centromeric instability-facial anomalies syndrome 2 ISO RGD:1315856 D RGD:7240710 20180130 OMIM 11968350 ZBTB24 zinc finger and BTB domain containing 24 gene DOID:0090009 immunodeficiency-centromeric instability-facial anomalies syndrome 2 ISO RGD:1315856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 2 PMID:16199547|PMID:17576681|PMID:21596365|PMID:22786748|PMID:25330735|PMID:25741868|PMID:28128455|PMID:28492532|PMID:28518168|PMID:29023266|PMID:29255178|PMID:30010917|PMID:30511102|PMID:30719684|PMID:30987377|PMID:31066130|PMID:31130284|PMID:32461654|PMID:33995370|PMID:9536098 11968350 ZBTB24 zinc finger and BTB domain containing 24 gene DOID:630 genetic disease ISO RGD:1315856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:28518168|PMID:32461654 11968350 ZBTB24 zinc finger and BTB domain containing 24 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1315856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:28492532|PMID:29255178 11968362 ACP2 acid phosphatase 2, lysosomal gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:10071 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11968362 ACP2 acid phosphatase 2, lysosomal gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:10071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 11968362 ACP2 acid phosphatase 2, lysosomal gene DOID:1059 intellectual disability ISO RGD:10071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11968362 ACP2 acid phosphatase 2, lysosomal gene DOID:11832 visual epilepsy ISO RGD:10070 D RGD:9068941 20200609 RGD PMID:9228031|REF_RGD_ID:1300245 11968362 ACP2 acid phosphatase 2, lysosomal gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:10071 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 11968362 ACP2 acid phosphatase 2, lysosomal gene DOID:630 genetic disease ISO RGD:10071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11968362 ACP2 acid phosphatase 2, lysosomal gene DOID:9006216 Acid Phosphatase Deficiency ISO RGD:10071 D RGD:7240710 20180130 OMIM 11968377 DNAI1 dynein axonemal intermediate chain 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1346895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:10577904|PMID:11231901|PMID:16199547|PMID:16858015|PMID:17576681|PMID:18434704|PMID:18492703|PMID:19300481|PMID:21143860|PMID:21270641|PMID:22416021|PMID:23477994|PMID:24033266|PMID:24498942|PMID:24912412|PMID:25741868|PMID:25802884|PMID:26918822|PMID:28152038|PMID:28492532|PMID:28939216|PMID:28952366|PMID:29363216|PMID:30067075|PMID:30868567|PMID:31589614|PMID:33032373|PMID:9536098 11968377 DNAI1 dynein axonemal intermediate chain 1 gene DOID:0050144 Kartagener syndrome susceptibility ISO RGD:1346895 D RGD:9068941 20200609 RGD DNA:missense mutation, insertion, deletion:exon, intron:p.G515S PMID:11231901|REF_RGD_ID:1601083 11968377 DNAI1 dynein axonemal intermediate chain 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1556874 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 11968377 DNAI1 dynein axonemal intermediate chain 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1346895 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11968377 DNAI1 dynein axonemal intermediate chain 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1346895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11968377 DNAI1 dynein axonemal intermediate chain 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1346895 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11968377 DNAI1 dynein axonemal intermediate chain 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:1346895 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11968377 DNAI1 dynein axonemal intermediate chain 1 gene DOID:0110594 primary ciliary dyskinesia 1 ISO RGD:1346895 D RGD:7240710 20200226 OMIM 11968377 DNAI1 dynein axonemal intermediate chain 1 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1346895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11968377 DNAI1 dynein axonemal intermediate chain 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1346895 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11968377 DNAI1 dynein axonemal intermediate chain 1 gene DOID:12336 male infertility ISO RGD:1346895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility PMID:25741868|PMID:28492532 11968377 DNAI1 dynein axonemal intermediate chain 1 gene DOID:5223 infertility ISO RGD:1346895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infertility PMID:25741868|PMID:28492532 11968377 DNAI1 dynein axonemal intermediate chain 1 gene DOID:630 genetic disease ISO RGD:1346895 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10577904|PMID:11231901|PMID:16858015|PMID:17576681|PMID:18434704|PMID:21143860|PMID:23477994|PMID:24033266|PMID:25741868|PMID:26918822|PMID:28492532|PMID:29363216|PMID:30067075|PMID:9536098 11968377 DNAI1 dynein axonemal intermediate chain 1 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1346895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11968377 DNAI1 dynein axonemal intermediate chain 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1346895 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:10577904|PMID:11231901|PMID:11713099|PMID:16199547|PMID:16858015|PMID:17576681|PMID:18434704|PMID:18492703|PMID:19300481|PMID:19675306|PMID:21143860|PMID:21270641|PMID:23477994|PMID:24033266|PMID:24498942|PMID:25741868|PMID:25802884|PMID:26918822|PMID:28152038|PMID:28492532|PMID:28939216|PMID:28952366|PMID:29095814|PMID:29363216|PMID:30067075|PMID:30300419|PMID:30868567|PMID:31589614|PMID:31650533|PMID:31772028|PMID:33032373|PMID:33131162|PMID:33715250|PMID:34445527|PMID:9536098 11968377 DNAI1 dynein axonemal intermediate chain 1 gene DOID:9870 galactosemia ISO RGD:1346895 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11968404 CLNS1A chloride nucleotide-sensitive channel 1A gene DOID:1059 intellectual disability ISO RGD:732210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11968404 CLNS1A chloride nucleotide-sensitive channel 1A gene DOID:1909 melanoma ISO RGD:732210 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11968404 CLNS1A chloride nucleotide-sensitive channel 1A gene DOID:630 genetic disease ISO RGD:732210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11968415 MFN2 mitofusin 2 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:732569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I 11968415 MFN2 mitofusin 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732569 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:10732809|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26955893|PMID:26968897|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29215088|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29674596|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30442897|PMID:30649465|PMID:30882371|PMID:31127728|PMID:31188717|PMID:31315766|PMID:31453851|PMID:31664033|PMID:31673878|PMID:32376792|PMID:32963807|PMID:33415332|PMID:8406488|PMID:9333264|PMID:9409358|PMID:9536098 11968415 MFN2 mitofusin 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732569 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:10732809|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25326637|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26955893|PMID:26968897|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29215088|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29674596|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30442897|PMID:30649465|PMID:30882371|PMID:31127728|PMID:31188717|PMID:31315766|PMID:31453851|PMID:31664033|PMID:31673878|PMID:32376792|PMID:32963807|PMID:33415332|PMID:8406488|PMID:9333264|PMID:9409358|PMID:9536098 11968415 MFN2 mitofusin 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732569 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:10732809|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21735565|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26955893|PMID:26968460|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27859025|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29215088|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30340945|PMID:30442897|PMID:30642740|PMID:30649465|PMID:30882371|PMID:31108397|PMID:31127728|PMID:31188717|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:34060689|PMID:34232518|PMID:34366782|PMID:34721278|PMID:8406488|PMID:9409358|PMID:9536098 11968415 MFN2 mitofusin 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732569 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:10732809|PMID:12601114|PMID:15064763|PMID:15297672|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17940179|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18490623|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:20819609|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21647385|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22556188|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25326637|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968460|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27859025|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:28902413|PMID:29068134|PMID:29215088|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30210586|PMID:30340945|PMID:30442897|PMID:30642740|PMID:30649465|PMID:30724636|PMID:30807887|PMID:30882371|PMID:31108397|PMID:31127728|PMID:31188717|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34060689|PMID:34193129|PMID:34232518|PMID:34366782|PMID:34721278|PMID:8406488|PMID:9409358|PMID:9536098 11968415 MFN2 mitofusin 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:10732809|PMID:12601114|PMID:15064763|PMID:15297672|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17940179|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18490623|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:20819609|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21647385|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22556188|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968460|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27859025|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:28902413|PMID:29068134|PMID:29215088|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30210586|PMID:30340945|PMID:30442897|PMID:30642740|PMID:30649465|PMID:30724636|PMID:30807887|PMID:30882371|PMID:31108397|PMID:31127728|PMID:31130284|PMID:31188717|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34060689|PMID:34193129|PMID:34232518|PMID:34366782|PMID:34721278|PMID:35938991|PMID:8406488|PMID:9409358|PMID:9536098 11968415 MFN2 mitofusin 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:732569 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:15549395|PMID:16437557|PMID:16762064|PMID:16835246|PMID:20301684|PMID:20350294|PMID:20587496|PMID:21508331|PMID:21707411|PMID:22206013|PMID:22492563|PMID:22762946|PMID:24604904|PMID:24819634|PMID:25448007|PMID:25741868|PMID:25802885|PMID:26085578|PMID:26467025|PMID:27549087|PMID:28063088|PMID:28492532|PMID:29898954|PMID:31673878|PMID:32376792 11968415 MFN2 mitofusin 2 gene DOID:0050753 cerebellar ataxia ISO RGD:732569 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:15064763|PMID:16043786|PMID:16835246|PMID:17296794|PMID:17959936|PMID:18316077|PMID:19812251|PMID:20008656|PMID:21508331|PMID:22492563|PMID:24126688|PMID:24957169|PMID:25741868|PMID:26467025|PMID:26801520|PMID:27100445|PMID:28492532|PMID:28660751|PMID:29898954 11968415 MFN2 mitofusin 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:732569 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11968415 MFN2 mitofusin 2 gene DOID:0080068 Charcot-Marie-Tooth disease type 6 ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, TYPE 6 | ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY AND OPTIC ATROPHY PMID:15064763|PMID:15549395|PMID:16043786|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18946002|PMID:18957892|PMID:19889647|PMID:20008656|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21707411|PMID:21715711|PMID:21840889|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:23456260|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24473995|PMID:24604904|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26257172|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26801520|PMID:26955893|PMID:27549087|PMID:27582484|PMID:27863451|PMID:28063088|PMID:28251916|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30340945|PMID:30649465|PMID:31108397|PMID:31130284|PMID:31188717|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34366782|PMID:35938991|PMID:8406488 11968415 MFN2 mitofusin 2 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:26401075|REF_RGD_ID:13204743 11968415 MFN2 mitofusin 2 gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:732569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 PMID:28492532 11968415 MFN2 mitofusin 2 gene DOID:0110155 Charcot-Marie-Tooth disease type 2A2A ISO RGD:732569 D RGD:7240710 20190703 OMIM 11968415 MFN2 mitofusin 2 gene DOID:0110155 Charcot-Marie-Tooth disease type 2A2A ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2A2A PMID:10732809|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:19889647|PMID:20008656|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:23456260|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24126688|PMID:24473995|PMID:24604904|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26257172|PMID:26307494|PMID:26316991|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26801520|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30340945|PMID:30649465|PMID:31108397|PMID:31130284|PMID:31188717|PMID:31211173|PMID:31372974|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34366782|PMID:35938991|PMID:8406488 11968415 MFN2 mitofusin 2 gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:732569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:16199547|PMID:16714318|PMID:18425620|PMID:21715711|PMID:22206013|PMID:26955893|PMID:28492532 11968415 MFN2 mitofusin 2 gene DOID:0111557 Charcot-Marie-Tooth disease type 2A2B ISO RGD:732569 D RGD:7240710 20190315 OMIM 11968415 MFN2 mitofusin 2 gene DOID:0111557 Charcot-Marie-Tooth disease type 2A2B ISO RGD:732569 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2A2B | ClinVar Annotator: match by term: Severe early-onset axonal neuropathy due to MFN2 deficiency PMID:15064763|PMID:16043786|PMID:16199547|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18946002|PMID:18957892|PMID:19889647|PMID:20008656|PMID:20335458|PMID:20350294|PMID:20482598|PMID:21326314|PMID:21508331|PMID:21531138|PMID:21576112|PMID:21715711|PMID:21840889|PMID:22492563|PMID:22494076|PMID:23147504|PMID:23456260|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24126688|PMID:24803844|PMID:24819634|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25614874|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26257172|PMID:26307494|PMID:26316991|PMID:26382835|PMID:26454100|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26801520|PMID:26955893|PMID:28215760|PMID:28251916|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29625556|PMID:29790872|PMID:29858556|PMID:30158064|PMID:30649465|PMID:31673878|PMID:31701603|PMID:32214227|PMID:32399692|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34193129|PMID:8406488 11968415 MFN2 mitofusin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:198122151|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28166811|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29898954|PMID:30158064|PMID:30442897|PMID:30882371|PMID:31188717|PMID:31211173|PMID:31673878|PMID:32376792|PMID:32963807|PMID:8406488|PMID:9409358|PMID:9536098 11968415 MFN2 mitofusin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732569 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:198122151|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28166811|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29898954|PMID:30158064|PMID:30442897|PMID:30882371|PMID:31188717|PMID:31211173|PMID:31673878|PMID:32376792|PMID:32963807|PMID:33415332|PMID:8406488|PMID:9409358|PMID:9536098 11968415 MFN2 mitofusin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732569 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26968897|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29898954|PMID:30158064|PMID:30442897|PMID:30882371|PMID:31188717|PMID:31453851|PMID:31673878|PMID:32376792|PMID:32963807|PMID:33415332|PMID:8406488|PMID:9409358|PMID:9536098 11968415 MFN2 mitofusin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732569 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25326637|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30442897|PMID:30882371|PMID:31188717|PMID:31453851|PMID:31673878|PMID:31832804|PMID:32376792|PMID:32963807|PMID:33415332|PMID:34060689|PMID:34232518|PMID:34366782|PMID:34721278|PMID:8406488|PMID:9409358|PMID:9536098 11968415 MFN2 mitofusin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732569 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25326637|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30340945|PMID:30442897|PMID:30649465|PMID:30807887|PMID:30882371|PMID:31127728|PMID:31188717|PMID:31211173|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34060689|PMID:34232518|PMID:34366782|PMID:34721278|PMID:8406488|PMID:9409358|PMID:9536098 11968415 MFN2 mitofusin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30340945|PMID:30442897|PMID:30649465|PMID:30807887|PMID:30882371|PMID:31127728|PMID:31130284|PMID:31188717|PMID:31211173|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34060689|PMID:34232518|PMID:34366782|PMID:34721278|PMID:35938991|PMID:8406488|PMID:9409358|PMID:9536098 11968415 MFN2 mitofusin 2 gene DOID:10652 Alzheimer's disease ISO RGD:628843 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:28302704|REF_RGD_ID:12910737 11968415 MFN2 mitofusin 2 gene DOID:10652 Alzheimer's disease ISO RGD:732569 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus (human) PMID:19605646|REF_RGD_ID:7800727 11968415 MFN2 mitofusin 2 gene DOID:10763 hypertension ISO RGD:628843 D RGD:9068941 20200609 RGD protein:decreased expression:aorta (rat) PMID:25464244|REF_RGD_ID:13204764 11968415 MFN2 mitofusin 2 gene DOID:10763 hypertension treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:27847271|REF_RGD_ID:12910764 11968415 MFN2 mitofusin 2 gene DOID:10907 microcephaly ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:15064763|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991 11968415 MFN2 mitofusin 2 gene DOID:11716 prediabetes syndrome ISO RGD:628843 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle (rat) PMID:27521417|REF_RGD_ID:12910830 11968415 MFN2 mitofusin 2 gene DOID:11720 distal myopathy ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Distal muscle weakness PMID:15064763|PMID:15549395|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25403865|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:32963807|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991 11968415 MFN2 mitofusin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:732570 D RGD:9068941 20200609 RGD with Mfn1 knockout PMID:22052916|REF_RGD_ID:11251967 11968415 MFN2 mitofusin 2 gene DOID:13001 carotid stenosis treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:15322553|REF_RGD_ID:1304351 11968415 MFN2 mitofusin 2 gene DOID:1596 depressive disorder treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:22244747|REF_RGD_ID:13204844 11968415 MFN2 mitofusin 2 gene DOID:1969 cerebral palsy ISO RGD:732569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 11968415 MFN2 mitofusin 2 gene DOID:224 transient cerebral ischemia ISO RGD:628843 D RGD:9068941 20200609 RGD protein:decreased expression:brain (rat) PMID:25147362|REF_RGD_ID:13204807 11968415 MFN2 mitofusin 2 gene DOID:2477 motor peripheral neuropathy ISO RGD:732569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:25741868|PMID:26467025|PMID:28492532 11968415 MFN2 mitofusin 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732569 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:22975021 11968415 MFN2 mitofusin 2 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:24912636|REF_RGD_ID:13204824 11968415 MFN2 mitofusin 2 gene DOID:4752 multiple system atrophy ISO RGD:732569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple system atrophy, cerebellar type PMID:25741868 11968415 MFN2 mitofusin 2 gene DOID:574 peripheral nervous system disease ISO RGD:732569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10732809|PMID:15064763|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:18602827|PMID:21149811|PMID:21772703|PMID:22492563|PMID:24863639|PMID:24957169|PMID:25741868|PMID:26467025|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27863451|PMID:28286897|PMID:28492532|PMID:28660751|PMID:30340945|PMID:31211173|PMID:31372974|PMID:31832804|PMID:34193129 11968415 MFN2 mitofusin 2 gene DOID:5844 myocardial infarction treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:20886221|REF_RGD_ID:12738232 11968415 MFN2 mitofusin 2 gene DOID:630 genetic disease ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15064763|PMID:16043786|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:17215403|PMID:17296794|PMID:17444508|PMID:17576681|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19889647|PMID:20008656|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21707411|PMID:21715711|PMID:21840889|PMID:22442078|PMID:22492563|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24473995|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26955893|PMID:26968897|PMID:26989944|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28251916|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29453956|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:30011089|PMID:30158064|PMID:30340945|PMID:30442897|PMID:30649465|PMID:31108397|PMID:31130284|PMID:31188717|PMID:31372974|PMID:31453851|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34060689|PMID:34232518|PMID:34366782|PMID:34721278|PMID:35938991|PMID:8406488|PMID:9536098 11968415 MFN2 mitofusin 2 gene DOID:7319 axonal neuropathy ISO RGD:732569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral axonal neuropathy PMID:18458227|PMID:20008656|PMID:20350294|PMID:20482598|PMID:22492563|PMID:24033266|PMID:24126688|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:28251916|PMID:28414270|PMID:28492532|PMID:29358271|PMID:30158064|PMID:33415332|PMID:33502018 11968415 MFN2 mitofusin 2 gene DOID:870 neuropathy ISO RGD:732569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10732809|PMID:15064763|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:18602827|PMID:21149811|PMID:21772703|PMID:22492563|PMID:24863639|PMID:24957169|PMID:25741868|PMID:26467025|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27863451|PMID:28286897|PMID:28492532|PMID:28660751|PMID:30340945|PMID:31211173|PMID:31372974|PMID:31832804|PMID:34193129 11968415 MFN2 mitofusin 2 gene DOID:8947 diabetic retinopathy ISO RGD:628843 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:decreased expression:retina (rat) PMID:28487236|REF_RGD_ID:12910715 11968415 MFN2 mitofusin 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:628843 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (rat) PMID:26079325|REF_RGD_ID:12437066 11968415 MFN2 mitofusin 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:28404953|REF_RGD_ID:12910735 11968415 MFN2 mitofusin 2 gene DOID:9000304 Manganese Poisoning ISO RGD:628843 D RGD:9068941 20200609 RGD protein:decreased expression:striatum (rat) PMID:28232070|REF_RGD_ID:12910738 11968415 MFN2 mitofusin 2 gene DOID:9001276 Failure to Thrive ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:15064763|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991 11968415 MFN2 mitofusin 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:628843 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver (rat) PMID:25369251|REF_RGD_ID:13204798 11968415 MFN2 mitofusin 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:26882442|REF_RGD_ID:12910839 11968415 MFN2 mitofusin 2 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:628843 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver (rat) PMID:24898700|REF_RGD_ID:13204829 11968415 MFN2 mitofusin 2 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:27363631|REF_RGD_ID:12910833 11968415 MFN2 mitofusin 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:732569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27997345 11968415 MFN2 mitofusin 2 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:628843 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:26123583|PMID:27997345|REF_RGD_ID:11053290|REF_RGD_ID:12910740 11968415 MFN2 mitofusin 2 gene DOID:9002211 Hyperalgesia ISO RGD:628843 D RGD:9068941 20200609 RGD mRNA:decreased expression:spinal cord (rat) PMID:28587902|REF_RGD_ID:12910704 11968415 MFN2 mitofusin 2 gene DOID:9002211 Hyperalgesia ISO RGD:732569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28587902 11968415 MFN2 mitofusin 2 gene DOID:9003139 Cardiac Fibrosis ISO RGD:628843 D RGD:9068941 20200609 RGD protein:decreased expression:heart (rat) PMID:26692091|REF_RGD_ID:11557238 11968415 MFN2 mitofusin 2 gene DOID:9003936 Cardiomegaly ISO RGD:628843 D RGD:9068941 20200609 RGD associated with Hypertension:protein:decreased expression:heart (rat) PMID:27085127|REF_RGD_ID:12910835 11968415 MFN2 mitofusin 2 gene DOID:9003936 Cardiomegaly ISO RGD:732569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17499311 11968415 MFN2 mitofusin 2 gene DOID:9003936 Cardiomegaly ISO RGD:732570 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart (mouse) PMID:27565029|REF_RGD_ID:12910768 11968415 MFN2 mitofusin 2 gene DOID:9003936 Cardiomegaly treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:27847271|REF_RGD_ID:12910764 11968415 MFN2 mitofusin 2 gene DOID:9003936 Cardiomegaly treatment ISO RGD:732570 D RGD:9068941 20200609 RGD PMID:28503736|REF_RGD_ID:12910714 11968415 MFN2 mitofusin 2 gene DOID:9003984 Hyperpigmentation ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyperpigmentation PMID:15064763|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991 11968415 MFN2 mitofusin 2 gene DOID:9004484 Sepsis ISO RGD:628843 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:24720571|REF_RGD_ID:13204837 11968415 MFN2 mitofusin 2 gene DOID:9004551 Charcot-Marie-Tooth Disease Type 2A2 ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2A2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A2 PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15136675|PMID:15297672|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21987543|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:23456260|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26801520|PMID:26955893|PMID:26968460|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30340945|PMID:30649465|PMID:30882371|PMID:31108397|PMID:31127728|PMID:31130284|PMID:31188717|PMID:31211173|PMID:31372974|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34232518|PMID:34366782|PMID:34721278|PMID:35938991|PMID:8406488|PMID:9409358 11968415 MFN2 mitofusin 2 gene DOID:9004610 Acute Lung Injury ISO RGD:628843 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (rat) PMID:25560372|REF_RGD_ID:12437080 11968415 MFN2 mitofusin 2 gene DOID:9004739 Cicatrix ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Scarring PMID:15064763|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991 11968415 MFN2 mitofusin 2 gene DOID:9005526 Pulmonary Edema of Mountaineers ISO RGD:628843 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (rat) PMID:23517027|REF_RGD_ID:12738217 11968415 MFN2 mitofusin 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628843 D RGD:9068941 20200609 RGD protein:increased expression:heart, mitochondrion (rat) PMID:27998959|REF_RGD_ID:12910739 11968415 MFN2 mitofusin 2 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:28483572|REF_RGD_ID:12910731 11968415 MFN2 mitofusin 2 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:628843 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung (rat) PMID:26485208|REF_RGD_ID:12910856 11968415 MFN2 mitofusin 2 gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:27491814|REF_RGD_ID:12910831 11968415 MFN2 mitofusin 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:732569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20886221 11968415 MFN2 mitofusin 2 gene DOID:9007661 Dwarfism ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Short stature PMID:15064763|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991 11968415 MFN2 mitofusin 2 gene DOID:9007692 Insulin Resistance treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:24715199|REF_RGD_ID:13204838 11968415 MFN2 mitofusin 2 gene DOID:9007697 Charcot-Marie-Tooth Disease Type 6A ISO RGD:732569 D RGD:7240710 20190911 OMIM 11968415 MFN2 mitofusin 2 gene DOID:9007697 Charcot-Marie-Tooth Disease Type 6A ISO RGD:732569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HMSN VIA | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY PMID:10732809|PMID:15064763|PMID:16043786|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:18458227|PMID:18602827|PMID:19889647|PMID:20008656|PMID:20350294|PMID:20482598|PMID:21149811|PMID:21576112|PMID:21772703|PMID:22492563|PMID:22494076|PMID:23456260|PMID:24033266|PMID:24126688|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26316991|PMID:26454100|PMID:26467025|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27863451|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29358271|PMID:30158064|PMID:30340945|PMID:31211173|PMID:31372974|PMID:31832804|PMID:33415332|PMID:33502018 11968415 MFN2 mitofusin 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:24721408|REF_RGD_ID:13204835 11968415 MFN2 mitofusin 2 gene DOID:9008086 Developmental Disabilities ISO RGD:732569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16714318|PMID:21715711|PMID:26955893|PMID:28492532 11968415 MFN2 mitofusin 2 gene DOID:9008563 Charcot-Marie-Tooth Disease, Type 2A ISO RGD:732569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HMSN IIA PMID:18458227|PMID:20008656|PMID:20350294|PMID:20482598|PMID:22492563|PMID:24033266|PMID:24126688|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:28251916|PMID:28414270|PMID:28492532|PMID:29358271|PMID:30158064|PMID:33415332|PMID:33502018 11968415 MFN2 mitofusin 2 gene DOID:9008824 Sarcopenia ISO RGD:628843 D RGD:9068941 20200609 RGD protein:increased expression:extensor digitorum longus (rat) PMID:23220115|REF_RGD_ID:12738219 11968415 MFN2 mitofusin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732569 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle tissue (human) PMID:16123358|REF_RGD_ID:13204820 11968415 MFN2 mitofusin 2 gene DOID:9452 fatty liver disease ISO RGD:628843 D RGD:9068941 20200609 RGD protein:decreased expression:liver (rat) PMID:24663492|REF_RGD_ID:12453042 11968415 MFN2 mitofusin 2 gene DOID:9970 obesity ISO RGD:628843 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:25336449|REF_RGD_ID:12880438 11968415 MFN2 mitofusin 2 gene DOID:9970 obesity ISO RGD:732569 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle tissue (human) PMID:12598526|REF_RGD_ID:1601412 11968456 PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11968456 PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:732809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 11968456 PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 gene DOID:12849 autistic disorder ISO RGD:732809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11968456 PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 gene DOID:2018 hyperinsulinism ISO RGD:3307 D RGD:9068941 20200609 RGD associated with Obesity;protein:increased expression:liver PMID:9705027|REF_RGD_ID:2302681 11968456 PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 gene DOID:630 genetic disease ISO RGD:732809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11968478 EPHA4 EPH receptor A4 gene DOID:10652 Alzheimer's disease ISO RGD:1345605 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:19542617|REF_RGD_ID:6218956 11968478 EPHA4 EPH receptor A4 gene DOID:10652 Alzheimer's disease ISO RGD:1558389 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:19542617|REF_RGD_ID:6218956 11968478 EPHA4 EPH receptor A4 gene DOID:3602 toxic encephalopathy ISO RGD:1560587 D RGD:9068941 20200609 RGD PMID:10336070|REF_RGD_ID:5688752 11968478 EPHA4 EPH receptor A4 gene DOID:630 genetic disease ISO RGD:1345605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11968478 EPHA4 EPH receptor A4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1558389 D RGD:9068941 20200609 RGD PMID:21931787|REF_RGD_ID:5688764 11968478 EPHA4 EPH receptor A4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1560587 D RGD:9068941 20200609 RGD PMID:17418490|PMID:17970742|REF_RGD_ID:5688750|REF_RGD_ID:5688782 11968478 EPHA4 EPH receptor A4 gene DOID:9000998 Brain Injuries ISO RGD:1345605 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:astrocyte PMID:22318127|REF_RGD_ID:5688763 11968478 EPHA4 EPH receptor A4 gene DOID:9001793 Generalized Epilepsy ISO RGD:1345605 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 11968478 EPHA4 EPH receptor A4 gene DOID:9002211 Hyperalgesia ISO RGD:1560587 D RGD:9068941 20200609 RGD associated with spinal cord injuries; PMID:16959251|REF_RGD_ID:5688783 11968478 EPHA4 EPH receptor A4 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1560587 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:21736568|REF_RGD_ID:5688765 11968478 EPHA4 EPH receptor A4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11968478 EPHA4 EPH receptor A4 gene DOID:9007402 Gliosis ISO RGD:1558389 D RGD:9068941 20200609 RGD associated with spinal cord injuries; PMID:15537875|REF_RGD_ID:5688771 11968478 EPHA4 EPH receptor A4 gene DOID:9007402 Gliosis no_association ISO RGD:1558389 D RGD:9068941 20200609 RGD associated with spinal cord injuries; PMID:20170651|REF_RGD_ID:5688772 11968513 CTPS2 CTP synthase 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11968513 CTPS2 CTP synthase 2 gene DOID:12849 autistic disorder ISO RGD:1602693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11968513 CTPS2 CTP synthase 2 gene DOID:630 genetic disease ISO RGD:1602693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11968513 CTPS2 CTP synthase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11968513 CTPS2 CTP synthase 2 gene DOID:9256 colorectal cancer resistance ISO RGD:1602693 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor (human) PMID:21378502|REF_RGD_ID:5132879 11968536 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 gene DOID:0060470 salt and pepper syndrome ISO RGD:1346095 D RGD:7240710 20190315 OMIM 11968536 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 gene DOID:0060470 salt and pepper syndrome ISO RGD:1346095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GM3 synthase deficiency | ClinVar Annotator: match by term: Infantile epilepsy syndrome PMID:15502825|PMID:16199547|PMID:17576681|PMID:18414213|PMID:22990144|PMID:23436467|PMID:24026681|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26649472|PMID:27232954|PMID:28492532|PMID:28726809|PMID:30576498|PMID:32404165|PMID:34906476|PMID:9536098 11968536 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1346095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 11968536 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 gene DOID:1059 intellectual disability ISO RGD:1346095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25741868 11968536 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 gene DOID:1826 epilepsy ISO RGD:1346095 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11968536 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 gene DOID:630 genetic disease ISO RGD:1346095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:30576498|PMID:32404165|PMID:34906476 11968536 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1346095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 11968550 DHRS4 dehydrogenase/reductase 4 gene DOID:0060439 lysinuric protein intolerance ISO RGD:732149 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11968550 DHRS4 dehydrogenase/reductase 4 gene DOID:0080600 COVID-19 ISO RGD:732149 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11968550 DHRS4 dehydrogenase/reductase 4 gene DOID:630 genetic disease ISO RGD:732149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11968550 DHRS4 dehydrogenase/reductase 4 gene DOID:9000265 Specific Granule Deficiency ISO RGD:732149 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11968550 DHRS4 dehydrogenase/reductase 4 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:732149 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11968561 ANKRD13A ankyrin repeat domain 13A gene DOID:630 genetic disease ISO RGD:1318431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11968584 ODF4 outer dense fiber of sperm tails 4 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1346133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22431104|PMID:23172776|PMID:28492532 11968584 ODF4 outer dense fiber of sperm tails 4 gene DOID:2729 dyskeratosis congenita ISO RGD:1346133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11968584 ODF4 outer dense fiber of sperm tails 4 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1346133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 11968584 ODF4 outer dense fiber of sperm tails 4 gene DOID:630 genetic disease ISO RGD:1346133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11968594 ZER1 zyg-11 related cell cycle regulator gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11968594 ZER1 zyg-11 related cell cycle regulator gene DOID:630 genetic disease ISO RGD:1321095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11968623 LRRC66 leucine rich repeat containing 66 gene DOID:630 genetic disease ISO RGD:1602410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11968630 SLC6A9 solute carrier family 6 member 9 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:732096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:23252400|PMID:28492532 11968630 SLC6A9 solute carrier family 6 member 9 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:732096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11968630 SLC6A9 solute carrier family 6 member 9 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:732096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:23252400|PMID:28492532 11968630 SLC6A9 solute carrier family 6 member 9 gene DOID:10283 prostate cancer ISO RGD:732096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 11968630 SLC6A9 solute carrier family 6 member 9 gene DOID:630 genetic disease ISO RGD:732096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11968630 SLC6A9 solute carrier family 6 member 9 gene DOID:670 amphetamine abuse ISO RGD:732096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17582620 11968630 SLC6A9 solute carrier family 6 member 9 gene DOID:9007710 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE ISO RGD:732096 D RGD:7240710 20190315 OMIM 11968630 SLC6A9 solute carrier family 6 member 9 gene DOID:9007710 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE ISO RGD:732096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycine encephalopathy with normal serum glycine PMID:16199547|PMID:17576681|PMID:23265383|PMID:25741868|PMID:27481395|PMID:27773429|PMID:28492532|PMID:29190063|PMID:32712301|PMID:9536098 11968630 SLC6A9 solute carrier family 6 member 9 gene DOID:9268 glycine encephalopathy ISO RGD:732097 D RGD:9068941 20220825 MouseDO OMIM:605899 11968668 SUCNR1 succinate receptor 1 gene DOID:630 genetic disease ISO RGD:1353653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11968675 CCNH cyclin H gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:69470 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11968675 CCNH cyclin H gene DOID:0111563 Sturge-Weber syndrome ISO RGD:69470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkes Weber syndrome PMID:25741868|PMID:28492532 11968675 CCNH cyclin H gene DOID:0111563 Sturge-Weber syndrome ISO RGD:69470 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Parkes Weber syndrome PMID:24038909|PMID:25741868|PMID:27081547|PMID:28492532|PMID:28655553|PMID:29891884 11968675 CCNH cyclin H gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:69470 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:18446851|PMID:24038909|PMID:25741868|PMID:28295764|PMID:28492532|PMID:29891884 11968675 CCNH cyclin H gene DOID:224 transient cerebral ischemia ISO RGD:69419 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hippocampus PMID:10501206|REF_RGD_ID:69371 11968675 CCNH cyclin H gene DOID:2513 basal cell carcinoma ISO RGD:69470 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 PMID:18446851|PMID:24038909|PMID:25741868|PMID:28492532|PMID:29891884|PMID:8275088 11968675 CCNH cyclin H gene DOID:2926 Klippel-Trenaunay syndrome ISO RGD:69470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angio-osteohypertrophy syndrome 11968675 CCNH cyclin H gene DOID:305 carcinoma ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 11968675 CCNH cyclin H gene DOID:3068 glioblastoma ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11968675 CCNH cyclin H gene DOID:3908 lung non-small cell carcinoma ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11968675 CCNH cyclin H gene DOID:630 genetic disease ISO RGD:69470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11968675 CCNH cyclin H gene DOID:9000039 Spinal Cord Injuries ISO RGD:69419 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord PMID:21710280|REF_RGD_ID:9590263 11968675 CCNH cyclin H gene DOID:9000081 Lymphatic Metastasis ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11968675 CCNH cyclin H gene DOID:9000117 Esophageal Neoplasms ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11968675 CCNH cyclin H gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 11968675 CCNH cyclin H gene DOID:9002304 Prostatic Neoplasms ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11968675 CCNH cyclin H gene DOID:9002762 Ovarian Neoplasms ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11968675 CCNH cyclin H gene DOID:9002928 Colonic Neoplasms ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11968675 CCNH cyclin H gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11968675 CCNH cyclin H gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69419 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:12606953|REF_RGD_ID:9590264 11968675 CCNH cyclin H gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 11968675 CCNH cyclin H gene DOID:9005469 Capillary Malformation-Arteriovenous Malformation ISO RGD:69470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome PMID:14639529|PMID:16199547|PMID:17576681|PMID:18446851|PMID:22200646|PMID:23164092|PMID:23650393|PMID:23687085|PMID:24038909|PMID:24139535|PMID:25741868|PMID:26499346|PMID:27081547|PMID:27535533|PMID:28295764|PMID:28492532|PMID:28655553|PMID:29024832|PMID:29120072|PMID:29891884|PMID:30120215|PMID:9536098 11968675 CCNH cyclin H gene DOID:9006290 Central Nervous System Venous Angioma ISO RGD:69470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral venous angioma PMID:23650393|PMID:25741868|PMID:31680349 11968675 CCNH cyclin H gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69470 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11968675 CCNH cyclin H gene DOID:9007188 Liver Neoplasms ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11968675 CCNH cyclin H gene DOID:9007729 Multiple Basal Cell Carcinoma ISO RGD:69470 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, multiple PMID:24038909|PMID:25741868|PMID:28492532 11968675 CCNH cyclin H gene DOID:9008640 Capillary Malformation-Arteriovenous Malformation 1 ISO RGD:69470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 PMID:14639529|PMID:16199547|PMID:18363760|PMID:18446851|PMID:23164092|PMID:24038909|PMID:25040287|PMID:25741868|PMID:26499346|PMID:27081547|PMID:27535533|PMID:28492532|PMID:28655553|PMID:29891884 11968675 CCNH cyclin H gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:69470 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY PMID:25741868 11968675 CCNH cyclin H gene DOID:9008939 Breast Neoplasms ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737399 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:0060770 dextro-looped transposition of the great arteries susceptibility ISO RGD:737399 D RGD:9068941 20200609 RGD DNA:SNP: : (rs1051266) (human) PMID:22868813|REF_RGD_ID:11565105 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:737399 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:737399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:737399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:10584 retinitis pigmentosa ISO RGD:737399 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29977801 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:11054 urinary bladder cancer ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21760912 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:12365 malaria ISO RGD:737399 D RGD:9068941 20210219 RGD DNA:SNP::g.80G>A (human) PMID:27198213|REF_RGD_ID:40903062 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:12849 autistic disorder ISO RGD:737399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:1289 neurodegenerative disease ISO RGD:737399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive neurodegenerative disease PMID:25741868|PMID:28492532|PMID:31623504 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:13550 angle-closure glaucoma ISO RGD:737399 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glaucoma, primary closed-angle PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:26467025|PMID:28041643|PMID:28492532|PMID:29977801|PMID:31623504 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:14250 Down syndrome ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16845273|PMID:17431899 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:1826 epilepsy ISO RGD:737399 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:2531 hematologic cancer ameliorates ISO RGD:737399 D RGD:9068941 20210219 RGD DNA:missense mutation:CDS:p.H27R (human) PMID:21984221|REF_RGD_ID:10449413 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:3910 lung adenocarcinoma ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:4448 macular degeneration ISO RGD:737399 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29977801 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:630 genetic disease ISO RGD:737399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:657 adenoma ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16963246 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:674 cleft palate ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:784 chronic kidney disease ISO RGD:3695 D RGD:9068941 20200609 RGD mRNA:decreased expression:multiple (rat) PMID:21149507|REF_RGD_ID:7327184 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:83 cataract ISO RGD:737399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract PMID:12415512|PMID:25456301|PMID:28492532 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:8501 fundus dystrophy ISO RGD:737399 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29977801 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:863 nervous system disease ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:737399 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:9002017 Folate-Responsive Megaloblastic Anemia ISO RGD:737399 D RGD:7240710 20210414 OMIM 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:9002033 Knobloch Syndrome ISO RGD:737399 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Knobloch syndrome PMID:12415512|PMID:14695535|PMID:1554013|PMID:17546652|PMID:17576681|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:24033266|PMID:25456301|PMID:25741868|PMID:26467025|PMID:28041643|PMID:28492532|PMID:29977801|PMID:32860008|PMID:9536098 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:9002766 Knobloch Syndrome Type I ISO RGD:737399 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Knobloch syndrome 1 PMID:25741868|PMID:28492532 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:9002801 Recurrence ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17255265 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15705887 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:9006205 Animal Disease Models ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16963246 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737399 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma PMID:15457444|PMID:15677700|PMID:17325736|PMID:18322994|PMID:19827168|PMID:22450926|PMID:22992668|PMID:25227144|PMID:26616421|PMID:27992285|PMID:28492532|PMID:31099054 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:9263 homocystinuria ISO RGD:737399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:9296 cleft lip ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:9296 cleft lip susceptibility ISO RGD:737399 D RGD:9068941 20200609 RGD DNA:SNP: :80G>A (human) PMID:18797703|REF_RGD_ID:11565176 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:737399 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11968712 SLC19A1 solute carrier family 19 member 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17255265 11968731 TCF7 transcription factor 7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314197 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11968731 TCF7 transcription factor 7 gene DOID:10283 prostate cancer severity ISO RGD:1314197 D RGD:9068941 20200609 RGD PMID:28220803|REF_RGD_ID:13506820 11968731 TCF7 transcription factor 7 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1314197 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 11968731 TCF7 transcription factor 7 gene DOID:630 genetic disease ISO RGD:1314197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11968731 TCF7 transcription factor 7 gene DOID:8778 Crohn's disease ISO RGD:1314197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24994854 11968731 TCF7 transcription factor 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11968731 TCF7 transcription factor 7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314197 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11968731 TCF7 transcription factor 7 gene DOID:9074 systemic lupus erythematosus ISO RGD:1314197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26808113 11968758 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:1616839 D RGD:9068941 20201211 RGD PMID:15670795|REF_RGD_ID:40902819 11968758 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:0080690 RASopathy ISO RGD:1345835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11968758 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1345835 D RGD:9068941 20200609 RGD PMID:15567511|REF_RGD_ID:10395348 11968758 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1616839 D RGD:9068941 20200609 RGD protein:increased threonine phosphorylation:hippocampus PMID:24315369|REF_RGD_ID:10395344 11968758 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:12858 Huntington's disease ISO RGD:1345835 D RGD:9068941 20200609 RGD PMID:11468270|PMID:15567511|REF_RGD_ID:10395345|REF_RGD_ID:10395348 11968758 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:12858 Huntington's disease ISO RGD:1616839 D RGD:9068941 20200609 RGD PMID:11468270|REF_RGD_ID:10395345 11968758 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:14330 Parkinson's disease ISO RGD:1345835 D RGD:9068941 20200609 RGD PMID:15567511|REF_RGD_ID:10395348 11968758 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:1824 status epilepticus ISO RGD:1345835 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16492139 11968758 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:2043 hepatitis B disease_progression ISO RGD:1345835 D RGD:9068941 20201218 RGD PMID:11861827|REF_RGD_ID:40902828 11968758 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:3298 vaccinia severity ISO RGD:1616839 D RGD:9068941 20201211 RGD PMID:11967338|REF_RGD_ID:40902818 11968758 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:3298 vaccinia susceptibility ISO RGD:1616839 D RGD:9068941 20201211 RGD PMID:20943971|REF_RGD_ID:40902816 11968758 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1345835 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:12675919|REF_RGD_ID:2301741 11968758 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:3402 D RGD:9068941 20200903 RGD protein:increased expression:lung PMID:32209028|REF_RGD_ID:38549370 11968758 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:630 genetic disease ISO RGD:1345835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32197074 11968758 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:9000794 Sporadic Creutzfeldt-Jakob Disease ISO RGD:1345835 D RGD:9068941 20200609 RGD PMID:19151623|REF_RGD_ID:10395347 11968758 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:9001488 Human Influenza ISO RGD:1345835 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11968758 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345835 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 11968758 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1345835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:25741868|PMID:32197074 11968758 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:9003110 LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME ISO RGD:1345835 D RGD:7240710 20200715 OMIM 11968758 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:9003110 LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME ISO RGD:1345835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome PMID:25741868|PMID:32197074|PMID:33236446|PMID:33553620|PMID:35146068 11968758 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:9004531 Cardiovirus Infections ISO RGD:1616839 D RGD:9068941 20201211 RGD PMID:21636578|REF_RGD_ID:40902809 11968758 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:9007930 Dystonia 33 ISO RGD:1345835 D RGD:7240710 20220112 OMIM 11968758 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:9007930 Dystonia 33 ISO RGD:1345835 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dystonia 33 PMID:25741868|PMID:33236446|PMID:33866603|PMID:35146068 11968758 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1345835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:32197074 11968789 TRIM23 tripartite motif containing 23 gene DOID:630 genetic disease ISO RGD:1606340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11968789 TRIM23 tripartite motif containing 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11968808 TMPRSS12 transmembrane serine protease 12 gene DOID:630 genetic disease ISO RGD:1606922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11968818 ZNF473 zinc finger protein 473 gene DOID:3007 breast ductal carcinoma ISO RGD:1352232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 11968818 ZNF473 zinc finger protein 473 gene DOID:630 genetic disease ISO RGD:1352232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11968827 MYO18B myosin XVIIIB gene DOID:0060224 atrial fibrillation ISO RGD:1349934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11968827 MYO18B myosin XVIIIB gene DOID:0080592 Klippel-Feil syndrome 4 ISO RGD:1349934 D RGD:7240710 20191225 OMIM 11968827 MYO18B myosin XVIIIB gene DOID:0080592 Klippel-Feil syndrome 4 ISO RGD:1349934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | ClinVar Annotator: match by term: Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism PMID:17576681|PMID:25741868|PMID:25748484|PMID:26752647|PMID:27858739|PMID:28492532|PMID:31195167|PMID:31230720|PMID:32184166|PMID:32637634|PMID:33179433|PMID:9536098 11968827 MYO18B myosin XVIIIB gene DOID:0110271 cataract 23 ISO RGD:1349934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 11968827 MYO18B myosin XVIIIB gene DOID:0111406 Fraser syndrome 3 ISO RGD:1349934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 PMID:28492532 11968827 MYO18B myosin XVIIIB gene DOID:10426 Klippel-Feil syndrome ISO RGD:1349934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome PMID:25741868 11968827 MYO18B myosin XVIIIB gene DOID:630 genetic disease ISO RGD:1349934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11968827 MYO18B myosin XVIIIB gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1349934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29054765 11968827 MYO18B myosin XVIIIB gene DOID:9003566 Mesothelioma ISO RGD:1349934 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17294804 11968827 MYO18B myosin XVIIIB gene DOID:9005172 Lung Neoplasms ISO RGD:1349934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29054765 11968877 MRPL10 mitochondrial ribosomal protein L10 gene DOID:630 genetic disease ISO RGD:1315061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11968886 IFT70B intraflagellar transport 70B gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1603563 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11968886 IFT70B intraflagellar transport 70B gene DOID:630 genetic disease ISO RGD:1603563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11968891 SERPINB5 serpin family B member 5 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:69089 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11968891 SERPINB5 serpin family B member 5 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:69089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 11968891 SERPINB5 serpin family B member 5 gene DOID:3008 invasive ductal carcinoma ISO RGD:69089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19944674 11968891 SERPINB5 serpin family B member 5 gene DOID:630 genetic disease ISO RGD:69089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11968891 SERPINB5 serpin family B member 5 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:69089 D RGD:9068941 20200609 RGD associated with hepatitis B; PMID:26296971|REF_RGD_ID:11520929 11968891 SERPINB5 serpin family B member 5 gene DOID:9000058 Keloid ISO RGD:69089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 11968891 SERPINB5 serpin family B member 5 gene DOID:9000965 Neoplasm Metastasis ISO RGD:69089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19514085 11968891 SERPINB5 serpin family B member 5 gene DOID:9002928 Colonic Neoplasms ISO RGD:69089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 11968891 SERPINB5 serpin family B member 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:69089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16331619 11968891 SERPINB5 serpin family B member 5 gene DOID:9008939 Breast Neoplasms ISO RGD:69089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16799634 11968902 LOC100986809 metallothionein-1E gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351881 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11968902 LOC100986809 metallothionein-1E gene DOID:0080600 COVID-19 ISO RGD:1351881 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11968902 LOC100986809 metallothionein-1E gene DOID:0080600 COVID-19 ISO RGD:1351881 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD14 monocytes (human) PMID:32377375|REF_RGD_ID:32716422 11968902 LOC100986809 metallothionein-1E gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351881 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11968902 LOC100986809 metallothionein-1E gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1351881 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11968902 LOC100986809 metallothionein-1E gene DOID:630 genetic disease ISO RGD:1351881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11968902 LOC100986809 metallothionein-1E gene DOID:684 hepatocellular carcinoma ISO RGD:1351881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11968914 MPLKIP M-phase specific PLK1 interacting protein gene DOID:0050528 nonphotosensitive trichothiodystrophy 4 ISO RGD:1344320 D RGD:7240710 20190904 OMIM 11968914 MPLKIP M-phase specific PLK1 interacting protein gene DOID:0050528 nonphotosensitive trichothiodystrophy 4 ISO RGD:1344320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 4, nonphotosensitive PMID:15645389|PMID:1634754|PMID:16977596|PMID:2333887|PMID:24824130|PMID:25290684|PMID:25606444|PMID:25741868|PMID:26880286|PMID:28492532|PMID:4847854|PMID:5645693 11968914 MPLKIP M-phase specific PLK1 interacting protein gene DOID:0111866 trichothiodystrophy ISO RGD:1344320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11968914 MPLKIP M-phase specific PLK1 interacting protein gene DOID:0111873 photosensitive trichothiodystrophy 1 ISO RGD:1344320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive 11968914 MPLKIP M-phase specific PLK1 interacting protein gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1344320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:10441570|PMID:15739154|PMID:18000979|PMID:20672375|PMID:24736735|PMID:28492532|PMID:29236091 11968914 MPLKIP M-phase specific PLK1 interacting protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11968914 MPLKIP M-phase specific PLK1 interacting protein gene DOID:630 genetic disease ISO RGD:1344320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11968920 DCHS1 dachsous cadherin-related 1 gene DOID:0060238 Van Maldergem syndrome ISO RGD:1349063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24056717 11968920 DCHS1 dachsous cadherin-related 1 gene DOID:0080585 Van Maldergem syndrome 1 ISO RGD:1349063 D RGD:7240710 20190327 OMIM 11968920 DCHS1 dachsous cadherin-related 1 gene DOID:0080585 Van Maldergem syndrome 1 ISO RGD:1349063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Van Maldergem syndrome 1 PMID:22473091|PMID:24056717|PMID:25741868|PMID:28492532 11968920 DCHS1 dachsous cadherin-related 1 gene DOID:2661 myoepithelioma ISO RGD:1349063 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11968920 DCHS1 dachsous cadherin-related 1 gene DOID:630 genetic disease ISO RGD:1349063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28518168|PMID:30755392|PMID:32461654 11968920 DCHS1 dachsous cadherin-related 1 gene DOID:9002205 Periventricular Nodular Heterotopia 2 ISO RGD:1349063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24056717 11968920 DCHS1 dachsous cadherin-related 1 gene DOID:9002971 Myxomatous Mitral Valve Prolapse 2 ISO RGD:1349063 D RGD:7240710 20180130 OMIM 11968920 DCHS1 dachsous cadherin-related 1 gene DOID:9002971 Myxomatous Mitral Valve Prolapse 2 ISO RGD:1349063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DCHS1-related disorder | ClinVar Annotator: match by term: Mitral valve prolapse, myxomatous 2 PMID:12707861|PMID:25741868|PMID:26258302|PMID:28492532 11968920 DCHS1 dachsous cadherin-related 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1349063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:30755392 11968920 DCHS1 dachsous cadherin-related 1 gene DOID:988 mitral valve prolapse ISO RGD:1616539 D RGD:9068941 20220825 MouseDO OMIM:157700 | OMIM:607829 | OMIM:610840 11968945 WBP2 WW domain binding protein 2 gene DOID:0080262 autosomal recessive nonsyndromic deafness 107 ISO RGD:1348215 D RGD:7240710 20190315 OMIM 11968945 WBP2 WW domain binding protein 2 gene DOID:0080262 autosomal recessive nonsyndromic deafness 107 ISO RGD:1348215 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 107 PMID:25741868|PMID:26881968|PMID:28492532 11968945 WBP2 WW domain binding protein 2 gene DOID:630 genetic disease ISO RGD:1348215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11968963 S100A13 S100 calcium binding protein A13 gene DOID:0111940 immunodeficiency 42 ISO RGD:1312636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11968963 S100A13 S100 calcium binding protein A13 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1312636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11968963 S100A13 S100 calcium binding protein A13 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1312636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11968963 S100A13 S100 calcium binding protein A13 gene DOID:1540 parathyroid carcinoma ISO RGD:1312636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11968963 S100A13 S100 calcium binding protein A13 gene DOID:5812 MHC class II deficiency ISO RGD:1312636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11968963 S100A13 S100 calcium binding protein A13 gene DOID:630 genetic disease ISO RGD:1312636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11968963 S100A13 S100 calcium binding protein A13 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11968983 STOML3 stomatin like 3 gene DOID:630 genetic disease ISO RGD:1322361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11968998 RTL5 retrotransposon Gag like 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11968998 RTL5 retrotransposon Gag like 5 gene DOID:12849 autistic disorder ISO RGD:1350874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11968998 RTL5 retrotransposon Gag like 5 gene DOID:630 genetic disease ISO RGD:1350874 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11969005 LRP6 LDL receptor related protein 6 gene DOID:0050567 orofacial cleft ISO RGD:1312373 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Orofacial cleft PMID:22813217|PMID:23806086|PMID:26963285 11969005 LRP6 LDL receptor related protein 6 gene DOID:0050591 tooth agenesis ISO RGD:1312373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Oligodontia | ClinVar Annotator: match by term: Tooth agenesis PMID:22813217|PMID:23033978|PMID:25741868|PMID:26963285|PMID:28492532 11969005 LRP6 LDL receptor related protein 6 gene DOID:0050770 polycystic liver disease ISO RGD:1312373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:28492532 11969005 LRP6 LDL receptor related protein 6 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1312373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 11969005 LRP6 LDL receptor related protein 6 gene DOID:0080074 neural tube defect ISO RGD:1312374 D RGD:9068941 20220825 MouseDO OMIM:182940 | OMIM:301410 | OMIM:601634 11969005 LRP6 LDL receptor related protein 6 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1312373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 11969005 LRP6 LDL receptor related protein 6 gene DOID:10126 keratoconus ISO RGD:1312373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 11969005 LRP6 LDL receptor related protein 6 gene DOID:10283 prostate cancer ISO RGD:1312373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11969005 LRP6 LDL receptor related protein 6 gene DOID:3393 coronary artery disease ISO RGD:1312373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease PMID:28492532 11969005 LRP6 LDL receptor related protein 6 gene DOID:630 genetic disease ISO RGD:1312373 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11969005 LRP6 LDL receptor related protein 6 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1312373 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868|PMID:28492532 11969005 LRP6 LDL receptor related protein 6 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1312373 D RGD:9068941 20200609 RGD PMID:12660824|REF_RGD_ID:2298724 11969005 LRP6 LDL receptor related protein 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312374 D RGD:9068941 20200609 RGD PMID:18006602|REF_RGD_ID:4110127 11969005 LRP6 LDL receptor related protein 6 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1312373 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease PMID:28492532 11969005 LRP6 LDL receptor related protein 6 gene DOID:9002374 Coronary Artery Disease, Autosomal Dominant 2 ISO RGD:1312373 D RGD:7240710 20180130 OMIM 11969005 LRP6 LDL receptor related protein 6 gene DOID:9002374 Coronary Artery Disease, Autosomal Dominant 2 ISO RGD:1312373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease, autosomal dominant 2 PMID:17332414|PMID:23703864|PMID:25741868|PMID:28492532 11969005 LRP6 LDL receptor related protein 6 gene DOID:9006646 Metabolic Syndrome ISO RGD:1312373 D RGD:9068941 20200609 RGD DNA:missense mutation:cds PMID:17332414|REF_RGD_ID:2298725 11969005 LRP6 LDL receptor related protein 6 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1312373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24552774 11969005 LRP6 LDL receptor related protein 6 gene DOID:9007661 Dwarfism ISO RGD:1312373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11969005 LRP6 LDL receptor related protein 6 gene DOID:9008283 Selective Tooth Agenesis 7 ISO RGD:1312373 D RGD:7240710 20180130 OMIM 11969005 LRP6 LDL receptor related protein 6 gene DOID:9008283 Selective Tooth Agenesis 7 ISO RGD:1312373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 7 PMID:22813217|PMID:23033978|PMID:25741868|PMID:26387593|PMID:26963285|PMID:28492532|PMID:34306029 11969005 LRP6 LDL receptor related protein 6 gene DOID:9452 fatty liver disease ISO RGD:1312374 D RGD:9068941 20220825 MouseDO OMIM:228100 11969050 ADSS2 adenylosuccinate synthase 2 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1321450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11969050 ADSS2 adenylosuccinate synthase 2 gene DOID:1115 sarcoma ISO RGD:1310508 D RGD:9068941 20200609 RGD protein:increased activity:tumor (rat) PMID:2560335|REF_RGD_ID:5143928 11969050 ADSS2 adenylosuccinate synthase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1321450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11969050 ADSS2 adenylosuccinate synthase 2 gene DOID:630 genetic disease ISO RGD:1321450 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11969050 ADSS2 adenylosuccinate synthase 2 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1321450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:28492532 11969050 ADSS2 adenylosuccinate synthase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11969067 PLXDC2 plexin domain containing 2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1314300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder 11969067 PLXDC2 plexin domain containing 2 gene DOID:630 genetic disease ISO RGD:1314300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11969089 GBP5 guanylate binding protein 5 gene DOID:10608 celiac disease ISO RGD:1322285 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 11969089 GBP5 guanylate binding protein 5 gene DOID:630 genetic disease ISO RGD:1322285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11969089 GBP5 guanylate binding protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11969112 HAUS3 HAUS augmin like complex subunit 3 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1312658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 11969112 HAUS3 HAUS augmin like complex subunit 3 gene DOID:1856 cherubism ISO RGD:1312658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11969112 HAUS3 HAUS augmin like complex subunit 3 gene DOID:630 genetic disease ISO RGD:1312658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11969157 MAP6D1 MAP6 domain containing 1 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1602463 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11969157 MAP6D1 MAP6 domain containing 1 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1602463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11969157 MAP6D1 MAP6 domain containing 1 gene DOID:0111546 Currarino syndrome ISO RGD:1602463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11969157 MAP6D1 MAP6 domain containing 1 gene DOID:630 genetic disease ISO RGD:1602463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11969168 SNCAIP synuclein alpha interacting protein gene DOID:0060892 late onset Parkinson's disease ISO RGD:1319545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:12761037|PMID:18366718|PMID:28492532 11969168 SNCAIP synuclein alpha interacting protein gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1319545 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11969168 SNCAIP synuclein alpha interacting protein gene DOID:14330 Parkinson's disease ISO RGD:1319545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Dominant/Recessive PMID:12761037|PMID:18366718|PMID:21344240|PMID:24033266|PMID:28492532 11969168 SNCAIP synuclein alpha interacting protein gene DOID:630 genetic disease ISO RGD:1319545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11969168 SNCAIP synuclein alpha interacting protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11969168 SNCAIP synuclein alpha interacting protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 11969168 SNCAIP synuclein alpha interacting protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319545 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11969168 SNCAIP synuclein alpha interacting protein gene DOID:9007386 Congenital Lower Urinary Tract Obstruction ISO RGD:1319545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital PMID:31690835 11969197 NCR2 natural cytotoxicity triggering receptor 2 gene DOID:0050444 infantile Refsum disease ISO RGD:1342633 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11969197 NCR2 natural cytotoxicity triggering receptor 2 gene DOID:630 genetic disease ISO RGD:1342633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11969197 NCR2 natural cytotoxicity triggering receptor 2 gene DOID:905 Zellweger syndrome ISO RGD:1342633 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11969218 NDUFB9 NADH:ubiquinone oxidoreductase subunit B9 gene DOID:0112079 nuclear type mitochondrial complex I deficiency 24 ISO RGD:1316117 D RGD:7240710 20190315 OMIM 11969218 NDUFB9 NADH:ubiquinone oxidoreductase subunit B9 gene DOID:0112079 nuclear type mitochondrial complex I deficiency 24 ISO RGD:1316117 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 PMID:22200994|PMID:25741868|PMID:28492532 11969218 NDUFB9 NADH:ubiquinone oxidoreductase subunit B9 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1316117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11969218 NDUFB9 NADH:ubiquinone oxidoreductase subunit B9 gene DOID:630 genetic disease ISO RGD:1316117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11969218 NDUFB9 NADH:ubiquinone oxidoreductase subunit B9 gene DOID:9004657 Weight Gain ISO RGD:1316117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11969228 SLC9A6 solute carrier family 9 member A6 gene DOID:0060022 CD40 ligand deficiency ISO RGD:1352693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11969228 SLC9A6 solute carrier family 9 member A6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11969228 SLC9A6 solute carrier family 9 member A6 gene DOID:0060825 Christianson syndrome ISO RGD:1352693 D RGD:7240710 20180130 OMIM 11969228 SLC9A6 solute carrier family 9 member A6 gene DOID:0060825 Christianson syndrome ISO RGD:1352693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:16199547|PMID:17576681|PMID:18342287|PMID:18414213|PMID:19471312|PMID:19619532|PMID:20395263|PMID:21465648|PMID:24123876|PMID:24123890|PMID:25044251|PMID:25167861|PMID:25741868|PMID:26467025|PMID:27256868|PMID:28492532|PMID:29588952|PMID:32581362|PMID:32776513|PMID:32860008|PMID:9536098 11969228 SLC9A6 solute carrier family 9 member A6 gene DOID:1059 intellectual disability ISO RGD:1352693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25167861|PMID:25741868|PMID:27256868|PMID:28492532 11969228 SLC9A6 solute carrier family 9 member A6 gene DOID:11782 astigmatism ISO RGD:1352693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astigmatism PMID:25741868 11969228 SLC9A6 solute carrier family 9 member A6 gene DOID:12849 autistic disorder ISO RGD:1352693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:25741868|PMID:30208311 11969228 SLC9A6 solute carrier family 9 member A6 gene DOID:630 genetic disease ISO RGD:1352693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:19471312|PMID:25167861|PMID:25741868|PMID:26467025|PMID:27256868|PMID:28492532 11969228 SLC9A6 solute carrier family 9 member A6 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1352693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11969228 SLC9A6 solute carrier family 9 member A6 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1352693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Visceral heterotaxia PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11969228 SLC9A6 solute carrier family 9 member A6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 11969228 SLC9A6 solute carrier family 9 member A6 gene DOID:9008086 Developmental Disabilities ISO RGD:1352693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:32581362|PMID:32860008 11969255 NDC1 NDC1 transmembrane nucleoporin gene DOID:630 genetic disease ISO RGD:1601865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11969255 NDC1 NDC1 transmembrane nucleoporin gene DOID:9004657 Weight Gain ISO RGD:1601865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11969255 NDC1 NDC1 transmembrane nucleoporin gene DOID:9008086 Developmental Disabilities ISO RGD:1601865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11969283 EIF2A eukaryotic translation initiation factor 2A gene DOID:0050579 glycogen storage disease XV ISO RGD:1605026 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 11969283 EIF2A eukaryotic translation initiation factor 2A gene DOID:5154 borna disease ISO RGD:1589591 D RGD:9068941 20200702 RGD protein:increased expression:cerebellum,hippocampus PMID:16912310|REF_RGD_ID:32733622 11969283 EIF2A eukaryotic translation initiation factor 2A gene DOID:630 genetic disease ISO RGD:1605026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11969283 EIF2A eukaryotic translation initiation factor 2A gene DOID:9004009 Reperfusion Injury ISO RGD:1605026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19041636 11969283 EIF2A eukaryotic translation initiation factor 2A gene DOID:9007102 Myocardial Ischemia ISO RGD:1605026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19041636 11969301 ARL4C ADP ribosylation factor like GTPase 4C gene DOID:0080600 COVID-19 ISO RGD:1345856 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11969301 ARL4C ADP ribosylation factor like GTPase 4C gene DOID:630 genetic disease ISO RGD:1345856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11969307 LOC100988094 cytochrome c oxidase subunit 5A, mitochondrial gene DOID:0080600 COVID-19 ISO RGD:732301 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11969307 LOC100988094 cytochrome c oxidase subunit 5A, mitochondrial gene DOID:2717 Bloom syndrome ISO RGD:732301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11969307 LOC100988094 cytochrome c oxidase subunit 5A, mitochondrial gene DOID:5419 schizophrenia ISO RGD:732301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11969307 LOC100988094 cytochrome c oxidase subunit 5A, mitochondrial gene DOID:630 genetic disease ISO RGD:732301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11969307 LOC100988094 cytochrome c oxidase subunit 5A, mitochondrial gene DOID:9004621 Mitochondrial Complex IV Deficiency, Nuclear Type 20 ISO RGD:732301 D RGD:7240710 20201111 OMIM 11969307 LOC100988094 cytochrome c oxidase subunit 5A, mitochondrial gene DOID:9004621 Mitochondrial Complex IV Deficiency, Nuclear Type 20 ISO RGD:732301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 PMID:28247525 11969307 LOC100988094 cytochrome c oxidase subunit 5A, mitochondrial gene DOID:9256 colorectal cancer ISO RGD:732301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11969313 CDH11 cadherin 11 gene DOID:0080631 Elsahy-Waters syndrome ISO RGD:1351773 D RGD:7240710 20190315 OMIM 11969313 CDH11 cadherin 11 gene DOID:0080631 Elsahy-Waters syndrome ISO RGD:1351773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Elsahy-Waters syndrome PMID:25741868|PMID:27431290|PMID:29271567 11969313 CDH11 cadherin 11 gene DOID:0081074 Teebi hypertelorism syndrome 2 ISO RGD:1351773 D RGD:7240710 20220413 OMIM 11969313 CDH11 cadherin 11 gene DOID:0081074 Teebi hypertelorism syndrome 2 ISO RGD:1351773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Teebi hypertelorism syndrome 2 PMID:33811546 11969313 CDH11 cadherin 11 gene DOID:13501 Moebius syndrome ISO RGD:1351773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 11969313 CDH11 cadherin 11 gene DOID:630 genetic disease ISO RGD:1351773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11969313 CDH11 cadherin 11 gene DOID:936 brain disease ISO RGD:1351773 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 4 PMID:25741868 11969363 POLR1F RNA polymerase I subunit F gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11969371 EMILIN3 elastin microfibril interfacer 3 gene DOID:2234 focal epilepsy ISO RGD:1320036 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11969371 EMILIN3 elastin microfibril interfacer 3 gene DOID:630 genetic disease ISO RGD:1320036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11969371 EMILIN3 elastin microfibril interfacer 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1320036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11969398 MDN1 midasin AAA ATPase 1 gene DOID:2843 long QT syndrome ISO RGD:1314985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11969398 MDN1 midasin AAA ATPase 1 gene DOID:630 genetic disease ISO RGD:1314985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11969507 HMGB1 high mobility group box 1 gene DOID:10652 Alzheimer's disease ISO RGD:10711 D RGD:9068941 20200609 RGD PMID:23905994|REF_RGD_ID:10402058 11969507 HMGB1 high mobility group box 1 gene DOID:10763 hypertension ISO RGD:1605729 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32147540 11969507 HMGB1 high mobility group box 1 gene DOID:10825 essential hypertension ISO RGD:1605729 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 11969507 HMGB1 high mobility group box 1 gene DOID:10908 hydrocephalus ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:22116431|REF_RGD_ID:10402405 11969507 HMGB1 high mobility group box 1 gene DOID:11446 sciatic neuropathy treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:23991202|REF_RGD_ID:10402062 11969507 HMGB1 high mobility group box 1 gene DOID:12986 leukostasis ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28294475 11969507 HMGB1 high mobility group box 1 gene DOID:13378 Kawasaki disease ISO RGD:1605729 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18720262|REF_RGD_ID:8695977 11969507 HMGB1 high mobility group box 1 gene DOID:13603 obstructive jaundice ISO RGD:2802 D RGD:9068941 20210122 RGD protein:increased expression:liver, plasma PMID:21737101|REF_RGD_ID:10402168 11969507 HMGB1 high mobility group box 1 gene DOID:13619 extrahepatic cholestasis ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 11969507 HMGB1 high mobility group box 1 gene DOID:1936 atherosclerosis treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:20519084|REF_RGD_ID:10402182 11969507 HMGB1 high mobility group box 1 gene DOID:224 transient cerebral ischemia ISO RGD:10711 D RGD:9068941 20200609 RGD protein:increased expression:brain, plasma PMID:23288172|REF_RGD_ID:8696004 11969507 HMGB1 high mobility group box 1 gene DOID:234 colon adenocarcinoma ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:20616616|REF_RGD_ID:10402080 11969507 HMGB1 high mobility group box 1 gene DOID:3070 high grade glioma treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:10830965|REF_RGD_ID:10402059 11969507 HMGB1 high mobility group box 1 gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:1605729 D RGD:9068941 20200609 RGD PMID:23639787|REF_RGD_ID:10402056 11969507 HMGB1 high mobility group box 1 gene DOID:3454 brain infarction ISO RGD:2802 D RGD:9068941 20230216 RGD PMID:19944723|REF_RGD_ID:2316741 11969507 HMGB1 high mobility group box 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:23480850|REF_RGD_ID:9681449 11969507 HMGB1 high mobility group box 1 gene DOID:3526 cerebral infarction ISO RGD:1605729 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:23288172|REF_RGD_ID:8696004 11969507 HMGB1 high mobility group box 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 11969507 HMGB1 high mobility group box 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27616297 11969507 HMGB1 high mobility group box 1 gene DOID:418 systemic scleroderma ISO RGD:10711 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18825489|REF_RGD_ID:8695973 11969507 HMGB1 high mobility group box 1 gene DOID:418 systemic scleroderma ISO RGD:1605729 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18825489|REF_RGD_ID:8695973 11969507 HMGB1 high mobility group box 1 gene DOID:5844 myocardial infarction ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21113057 11969507 HMGB1 high mobility group box 1 gene DOID:5844 myocardial infarction treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:23188125|REF_RGD_ID:10402174 11969507 HMGB1 high mobility group box 1 gene DOID:6000 congestive heart failure ISO RGD:1605729 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:23708738|REF_RGD_ID:10402070 11969507 HMGB1 high mobility group box 1 gene DOID:6000 congestive heart failure treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:24204700|REF_RGD_ID:10402081 11969507 HMGB1 high mobility group box 1 gene DOID:630 genetic disease ISO RGD:1605729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11969507 HMGB1 high mobility group box 1 gene DOID:6432 pulmonary hypertension treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:25032709|REF_RGD_ID:10402082 11969507 HMGB1 high mobility group box 1 gene DOID:824 periodontitis ISO RGD:2802 D RGD:9068941 20200609 RGD protein:increased expression:gingiva PMID:24692854|REF_RGD_ID:10402172 11969507 HMGB1 high mobility group box 1 gene DOID:8398 osteoarthritis ISO RGD:10711 D RGD:9068941 20200609 RGD PMID:22330250|REF_RGD_ID:10401949 11969507 HMGB1 high mobility group box 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2802 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:20195207|REF_RGD_ID:2325645 11969507 HMGB1 high mobility group box 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:2802 D RGD:9068941 20200609 RGD associated with Adenocarcinoma, Colon PMID:20616616|REF_RGD_ID:10402080 11969507 HMGB1 high mobility group box 1 gene DOID:9000099 Experimental Colitis treatment ISO RGD:2802 D RGD:9068941 20220623 RGD PMID:29572553|REF_RGD_ID:152995414 11969507 HMGB1 high mobility group box 1 gene DOID:9000238 Acute-On-Chronic Liver Failure treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:23591781|REF_RGD_ID:10402084 11969507 HMGB1 high mobility group box 1 gene DOID:9000945 Ventilator-Induced Lung Injury treatment ISO RGD:2802 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:24058610|REF_RGD_ID:10402091 11969507 HMGB1 high mobility group box 1 gene DOID:9000972 Fever ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19265175 11969507 HMGB1 high mobility group box 1 gene DOID:9000998 Brain Injuries treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:22915134|REF_RGD_ID:7245513 11969507 HMGB1 high mobility group box 1 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:21999229|REF_RGD_ID:10402064 11969507 HMGB1 high mobility group box 1 gene DOID:9002153 Chronic Allograft Dysfunction treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:22217518|REF_RGD_ID:7245568 11969507 HMGB1 high mobility group box 1 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2802 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, altered localization:serum, hepatocyte, cytoplasm PMID:21431875|REF_RGD_ID:10402078 11969507 HMGB1 high mobility group box 1 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2802 D RGD:9068941 20200609 RGD protein:increased oxidation:liver PMID:22514737|REF_RGD_ID:10402175 11969507 HMGB1 high mobility group box 1 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:24578610|REF_RGD_ID:10402068 11969507 HMGB1 high mobility group box 1 gene DOID:9002211 Hyperalgesia ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27474498 11969507 HMGB1 high mobility group box 1 gene DOID:9002211 Hyperalgesia treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:24077211|PMID:30142543|REF_RGD_ID:13838658|REF_RGD_ID:7364865 11969507 HMGB1 high mobility group box 1 gene DOID:9002311 Experimental Autoimmune Myocarditis ISO RGD:2802 D RGD:9068941 20200609 RGD protein:increased expression:heart, serum PMID:24599045|REF_RGD_ID:8696002 11969507 HMGB1 high mobility group box 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1605729 D RGD:9068941 20200609 RGD mRNA:decreased expression:articular cartilage PMID:19139395|REF_RGD_ID:10402184 11969507 HMGB1 high mobility group box 1 gene DOID:9002331 Knee Osteoarthritis severity ISO RGD:1605729 D RGD:9068941 20200609 RGD protein:increased expression:synovial fluid PMID:21968272|REF_RGD_ID:10402061 11969507 HMGB1 high mobility group box 1 gene DOID:9002457 Experimental Arthritis ISO RGD:2802 D RGD:9068941 20200609 RGD protein:altered localization:cytoplasm, extracellular matrix PMID:12384917|REF_RGD_ID:728698 11969507 HMGB1 high mobility group box 1 gene DOID:9002644 Premature Aging ISO RGD:10711 D RGD:9068941 20200609 RGD protein:increased expression:adipose tissue PMID:21828285|REF_RGD_ID:10043099 11969507 HMGB1 high mobility group box 1 gene DOID:9002906 Multiple Organ Failure ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19265175 11969507 HMGB1 high mobility group box 1 gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:10711 D RGD:9068941 20200609 RGD PMID:24371837|REF_RGD_ID:10402057 11969507 HMGB1 high mobility group box 1 gene DOID:9003199 Systemic Vasculitis ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23146691 11969507 HMGB1 high mobility group box 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1605729 D RGD:9068941 20200609 RGD PMID:23708738|REF_RGD_ID:10402070 11969507 HMGB1 high mobility group box 1 gene DOID:9004009 Reperfusion Injury treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:22392147|REF_RGD_ID:10402071 11969507 HMGB1 high mobility group box 1 gene DOID:9004484 Sepsis ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19265175|PMID:23146691 11969507 HMGB1 high mobility group box 1 gene DOID:9004484 Sepsis treatment ISO RGD:10711 D RGD:9068941 20200609 RGD PMID:20936717|REF_RGD_ID:10402173 11969507 HMGB1 high mobility group box 1 gene DOID:9004484 Sepsis treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:19623040|REF_RGD_ID:10402067 11969507 HMGB1 high mobility group box 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2802 D RGD:9068941 20200609 RGD associated with Burns PMID:23874764|REF_RGD_ID:10402098 11969507 HMGB1 high mobility group box 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2802 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:19766246|REF_RGD_ID:4892587 11969507 HMGB1 high mobility group box 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2802 D RGD:9068941 20200709 RGD associated with Crush Injuries PMID:30465396|REF_RGD_ID:34901874 11969507 HMGB1 high mobility group box 1 gene DOID:9004649 Heat Stroke treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:20047080|REF_RGD_ID:10402179 11969507 HMGB1 high mobility group box 1 gene DOID:9004974 Painful Neuropathy ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27474498 11969507 HMGB1 high mobility group box 1 gene DOID:9005372 Inflammation ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21617575|PMID:22178603|PMID:22386814|PMID:22429818|PMID:23146691 11969507 HMGB1 high mobility group box 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2802 D RGD:9068941 20200609 RGD associated with Endotoxemia;protein:increased expression:serum PMID:19959191|REF_RGD_ID:2316737 11969507 HMGB1 high mobility group box 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2802 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:retina, cytoplasm PMID:23261684|REF_RGD_ID:10402069 11969507 HMGB1 high mobility group box 1 gene DOID:9005749 Necrosis ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19783637|PMID:22178603 11969507 HMGB1 high mobility group box 1 gene DOID:9005930 Endotoxemia ISO RGD:2802 D RGD:9068941 20200609 RGD protein:increased expression:heart, serum PMID:18503231|REF_RGD_ID:10402065 11969507 HMGB1 high mobility group box 1 gene DOID:9005968 Neuralgia ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25014009 11969507 HMGB1 high mobility group box 1 gene DOID:9006444 Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia ISO RGD:1605729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia PMID:20661588 11969507 HMGB1 high mobility group box 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27474498 11969507 HMGB1 high mobility group box 1 gene DOID:9006827 Lung Reperfusion Injury ISO RGD:2802 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:22115333|REF_RGD_ID:10402095 11969507 HMGB1 high mobility group box 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11969507 HMGB1 high mobility group box 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19783637 11969507 HMGB1 high mobility group box 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:10711 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 11969507 HMGB1 high mobility group box 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 11969507 HMGB1 high mobility group box 1 gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:23706497|REF_RGD_ID:10402063 11969507 HMGB1 high mobility group box 1 gene DOID:9007730 Burns treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:20723408|REF_RGD_ID:10402183 11969507 HMGB1 high mobility group box 1 gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:22093738|REF_RGD_ID:10402181 11969507 HMGB1 high mobility group box 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21113057 11969507 HMGB1 high mobility group box 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:19540007|PMID:23531454|REF_RGD_ID:10402066|REF_RGD_ID:10402170 11969517 ITGB3 integrin subunit beta 3 gene DOID:0050864 non-arteritic anterior ischemic optic neuropathy susceptibility ISO RGD:1345363 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:20162297|REF_RGD_ID:8693343 11969517 ITGB3 integrin subunit beta 3 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1345363 D RGD:9068941 20200609 RGD PMID:16121636|REF_RGD_ID:10755468 11969517 ITGB3 integrin subunit beta 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254450 11969517 ITGB3 integrin subunit beta 3 gene DOID:0060691 platelet-type bleeding disorder 16 ISO RGD:1345363 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Platelet-type bleeding disorder 16 PMID:1371279|PMID:19570064|PMID:19821948|PMID:20804530|PMID:21287507|PMID:22490273|PMID:22862885|PMID:24617330|PMID:25741868|PMID:28492532|PMID:9351872 11969517 ITGB3 integrin subunit beta 3 gene DOID:0080199 colorectal carcinoma severity ISO RGD:1345363 D RGD:9068941 20200609 RGD PMID:11299820|REF_RGD_ID:5112894 11969517 ITGB3 integrin subunit beta 3 gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome severity ISO RGD:1345363 D RGD:9068941 20200609 RGD protein:increased expression:platelet PMID:18419255|REF_RGD_ID:6907404 11969517 ITGB3 integrin subunit beta 3 gene DOID:11847 coronary thrombosis ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8598867 11969517 ITGB3 integrin subunit beta 3 gene DOID:12361 Graves' disease ISO RGD:1345363 D RGD:9068941 20200609 RGD PMID:23109646|REF_RGD_ID:8693341 11969517 ITGB3 integrin subunit beta 3 gene DOID:12849 autistic disorder ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16721604|PMID:16724005|PMID:17203304 11969517 ITGB3 integrin subunit beta 3 gene DOID:13001 carotid stenosis ISO RGD:737483 D RGD:9068941 20200609 RGD PMID:15007005|REF_RGD_ID:1582450 11969517 ITGB3 integrin subunit beta 3 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:733132 D RGD:9068941 20200609 RGD PMID:21804539|REF_RGD_ID:6907385 11969517 ITGB3 integrin subunit beta 3 gene DOID:1588 thrombocytopenia ISO RGD:1345363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532|PMID:31064749|PMID:32581362 11969517 ITGB3 integrin subunit beta 3 gene DOID:2213 hemorrhagic disease ISO RGD:1345363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532|PMID:31064749 11969517 ITGB3 integrin subunit beta 3 gene DOID:2219 Glanzmann's thrombasthenia ISO RGD:1345363 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2 | ClinVar Annotator: match by term: Glanzmann thrombasthenia | ClinVar Annotator: match by term: Glanzmann thrombasthenia type A PMID:10233432|PMID:10583927|PMID:10727448|PMID:10891446|PMID:11507099|PMID:11723016|PMID:11776310|PMID:11806996|PMID:12083483|PMID:12152649|PMID:12353082|PMID:1371279|PMID:1430225|PMID:1438206|PMID:14516468|PMID:14629479|PMID:14690453|PMID:15583747|PMID:15634267|PMID:1602006|PMID:16199547|PMID:16463284|PMID:16722529|PMID:16879215|PMID:17264806|PMID:18832906|PMID:19570064|PMID:19691478|PMID:19821948|PMID:20020534|PMID:2014236|PMID:20438394|PMID:20514620|PMID:20804530|PMID:21113249|PMID:21287507|PMID:21658138|PMID:21917754|PMID:22190468|PMID:22250950|PMID:22490273|PMID:22862885|PMID:2392682|PMID:24236036|PMID:2428841|PMID:24617330|PMID:24685245|PMID:25373348|PMID:25539746|PMID:25728920|PMID:25741868|PMID:25827233|PMID:26829726|PMID:27469266|PMID:28492532|PMID:28748566|PMID:28983057|PMID:30138987|PMID:30792900|PMID:30828542|PMID:31064749|PMID:31088191|PMID:31565851|PMID:32139434|PMID:32237906|PMID:32581362|PMID:32757236|PMID:34355501|PMID:7570918|PMID:7694683|PMID:8080992|PMID:8132570|PMID:8457479|PMID:8598867|PMID:8667943|PMID:8781422|PMID:8838346|PMID:9215749|PMID:9351872|PMID:9376589|PMID:9450787|PMID:9700201|PMID:9787162|PMID:9845537 11969517 ITGB3 integrin subunit beta 3 gene DOID:224 transient cerebral ischemia ISO RGD:628868 D RGD:9068941 20200609 RGD PMID:18638458|REF_RGD_ID:6907424 11969517 ITGB3 integrin subunit beta 3 gene DOID:2349 arteriosclerosis ISO RGD:737483 D RGD:9068941 20200609 RGD PMID:12746502|REF_RGD_ID:5100478 11969517 ITGB3 integrin subunit beta 3 gene DOID:2841 asthma ISO RGD:1345363 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:17556058|REF_RGD_ID:5037230 11969517 ITGB3 integrin subunit beta 3 gene DOID:2921 glomerulonephritis ISO RGD:1345363 D RGD:9068941 20200609 RGD PMID:11051455|REF_RGD_ID:6907411 11969517 ITGB3 integrin subunit beta 3 gene DOID:2921 glomerulonephritis ISO RGD:628868 D RGD:9068941 20200609 RGD PMID:8083378|REF_RGD_ID:6907420 11969517 ITGB3 integrin subunit beta 3 gene DOID:3410 carotid artery thrombosis ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1605806 11969517 ITGB3 integrin subunit beta 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345363 D RGD:9068941 20200609 RGD PMID:19386436|REF_RGD_ID:5037228 11969517 ITGB3 integrin subunit beta 3 gene DOID:552 pneumonia disease_progression ISO RGD:737483 D RGD:9068941 20200609 RGD PMID:12746502|REF_RGD_ID:5100478 11969517 ITGB3 integrin subunit beta 3 gene DOID:5844 myocardial infarction ISO RGD:1345363 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:10583927|PMID:10727448|PMID:11723016|PMID:17264806|PMID:2014236|PMID:25728920|PMID:25741868|PMID:28492532|PMID:7570918|PMID:8598867|PMID:8667943|PMID:8838346|PMID:9700201 11969517 ITGB3 integrin subunit beta 3 gene DOID:5844 myocardial infarction no_association ISO RGD:1345363 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:9716140|REF_RGD_ID:5128498 11969517 ITGB3 integrin subunit beta 3 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1345363 D RGD:7240710 20230517 OMIM 11969517 ITGB3 integrin subunit beta 3 gene DOID:630 genetic disease ISO RGD:1345363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11969517 ITGB3 integrin subunit beta 3 gene DOID:783 end stage renal disease ISO RGD:1345363 D RGD:9068941 20200609 RGD associated with Hypertension;DNA:polymorphism PMID:19368146|REF_RGD_ID:6907396 11969517 ITGB3 integrin subunit beta 3 gene DOID:850 lung disease ISO RGD:737483 D RGD:9068941 20200609 RGD acute lung injury PMID:19272161|REF_RGD_ID:5037229 11969517 ITGB3 integrin subunit beta 3 gene DOID:874 bacterial pneumonia ISO RGD:628868 D RGD:9068941 20200609 RGD protein:increased expression:lung, neutrophil PMID:15114484|REF_RGD_ID:4993468 11969517 ITGB3 integrin subunit beta 3 gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1345363 D RGD:9068941 20200609 RGD PMID:10936026|REF_RGD_ID:10755473 11969517 ITGB3 integrin subunit beta 3 gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:737483 D RGD:9068941 20200609 RGD PMID:24258817|REF_RGD_ID:10755475 11969517 ITGB3 integrin subunit beta 3 gene DOID:8947 diabetic retinopathy ISO RGD:1345363 D RGD:9068941 20200609 RGD protein:increased expression:optic choroid vascular plexus: PMID:11375345|REF_RGD_ID:8693344 11969517 ITGB3 integrin subunit beta 3 gene DOID:9000146 Plaque, Atherosclerotic severity ISO RGD:1345363 D RGD:9068941 20200609 RGD DNA:SNP: :rs5918(human) PMID:21353223|REF_RGD_ID:13602095 11969517 ITGB3 integrin subunit beta 3 gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:1345363 D RGD:9068941 20200609 RGD associated with Chronic Allograft Dysfunction;protein:increased expression:arteriole PMID:18234279|REF_RGD_ID:10755463 11969517 ITGB3 integrin subunit beta 3 gene DOID:9000430 Platelet-Type Bleeding Disorder 24 ISO RGD:1345363 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 24 PMID:15583747|PMID:18065693|PMID:19336737|PMID:20081061|PMID:20804530|PMID:23253071|PMID:25741868|PMID:27469266|PMID:28492532|PMID:33276370 11969517 ITGB3 integrin subunit beta 3 gene DOID:9000430 Platelet-Type Bleeding Disorder 24 susceptibility ISO RGD:1345363 D RGD:7240710 20230517 OMIM 11969517 ITGB3 integrin subunit beta 3 gene DOID:9000528 Coronary Disease ISO RGD:1345363 D RGD:9068941 20200609 RGD DNA:polymorphism:exon PMID:10583927|REF_RGD_ID:5128478 11969517 ITGB3 integrin subunit beta 3 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1345363 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:15817799|REF_RGD_ID:5037231 11969517 ITGB3 integrin subunit beta 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345363 D RGD:9068941 20200609 RGD associated with renal cell carcinoma;DNA:missense mutation:cds:p.L33P (human) PMID:16831169|REF_RGD_ID:6907406 11969517 ITGB3 integrin subunit beta 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737483 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:21107114|REF_RGD_ID:5037225 11969517 ITGB3 integrin subunit beta 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11969517 ITGB3 integrin subunit beta 3 gene DOID:9001627 Pathologic Constriction ISO RGD:1345363 D RGD:9068941 20200609 RGD DNA:polymorphism:exon PMID:9315527|REF_RGD_ID:5128501 11969517 ITGB3 integrin subunit beta 3 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15840736 11969517 ITGB3 integrin subunit beta 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16158739 11969517 ITGB3 integrin subunit beta 3 gene DOID:9002319 Glanzmann Thrombasthenia 1 ISO RGD:1345363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glanzmann thrombasthenia 1 PMID:11776310|PMID:1371279|PMID:15583747|PMID:1602006|PMID:25728920|PMID:25741868|PMID:28492532|PMID:30138987|PMID:32757236|PMID:9215749|PMID:9351872 11969517 ITGB3 integrin subunit beta 3 gene DOID:9002457 Experimental Arthritis ISO RGD:628868 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell PMID:16869003|REF_RGD_ID:2317300 11969517 ITGB3 integrin subunit beta 3 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9445356 11969517 ITGB3 integrin subunit beta 3 gene DOID:9003340 Neonatal Alloimmune Thrombocytopenia ISO RGD:1345363 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ca/Tu ALLOANTIGEN POLYMORPHISM | ClinVar Annotator: match by term: Fetal and neonatal alloimmune thrombocytopenia | ClinVar Annotator: match by term: Mo ALLOANTIGEN POLYMORPHISM | ClinVar Annotator: match by term: PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM PMID:1430225|PMID:14516468|PMID:21658138|PMID:2257303|PMID:25741868|PMID:25827233|PMID:28370162|PMID:28492532|PMID:7694683|PMID:8093349|PMID:8457479|PMID:9787162 11969517 ITGB3 integrin subunit beta 3 gene DOID:9003758 Banti's Syndrome ISO RGD:1345363 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.L33P (human) PMID:18685811|REF_RGD_ID:10755472 11969517 ITGB3 integrin subunit beta 3 gene DOID:9003790 Posttransfusion Purpura ISO RGD:1345363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM PMID:1430225|PMID:14516468|PMID:21658138|PMID:25741868|PMID:28492532|PMID:9787162 11969517 ITGB3 integrin subunit beta 3 gene DOID:9003790 Posttransfusion Purpura susceptibility ISO RGD:1345363 D RGD:7240710 20230517 OMIM 11969517 ITGB3 integrin subunit beta 3 gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:1345363 D RGD:9068941 20200609 RGD associated with Behcet Syndrome; DNA:polymorphism: : PMID:21813062|REF_RGD_ID:8693342 11969517 ITGB3 integrin subunit beta 3 gene DOID:9004009 Reperfusion Injury ISO RGD:628868 D RGD:9068941 20200609 RGD PMID:11705748|REF_RGD_ID:2316361 11969517 ITGB3 integrin subunit beta 3 gene DOID:9005175 Ulcer susceptibility ISO RGD:1345363 D RGD:9068941 20200609 RGD associated with Behcet Syndrome; DNA:polymorphism: : PMID:21813062|REF_RGD_ID:8693342 11969517 ITGB3 integrin subunit beta 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:628868 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland: PMID:22022542|REF_RGD_ID:8693386 11969517 ITGB3 integrin subunit beta 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628868 D RGD:9068941 20200609 RGD protein:increased expression:aorta: PMID:12606526|REF_RGD_ID:8693385 11969517 ITGB3 integrin subunit beta 3 gene DOID:9005876 Thrombocytopenic Purpura ISO RGD:1345363 D RGD:9068941 20200609 RGD associated with HIV Infections PMID:8565280|REF_RGD_ID:10755471 11969517 ITGB3 integrin subunit beta 3 gene DOID:9005876 Thrombocytopenic Purpura ISO RGD:737483 D RGD:9068941 20200609 RGD PMID:11493456|REF_RGD_ID:2316362 11969517 ITGB3 integrin subunit beta 3 gene DOID:9005930 Endotoxemia ISO RGD:628868 D RGD:9068941 20200609 RGD PMID:15280099|REF_RGD_ID:2316360 11969517 ITGB3 integrin subunit beta 3 gene DOID:9006182 Carotid Artery Injuries ISO RGD:628868 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery PMID:17868879|REF_RGD_ID:4892652 11969517 ITGB3 integrin subunit beta 3 gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:628868 D RGD:9068941 20200609 RGD neointima PMID:16793666|REF_RGD_ID:4990460 11969517 ITGB3 integrin subunit beta 3 gene DOID:9007096 Stroke ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9445356 11969517 ITGB3 integrin subunit beta 3 gene DOID:9007096 Stroke ISO RGD:1345363 D RGD:9068941 20200609 RGD associated with hypertension; DNA:polymorphism:exon PMID:20846430|REF_RGD_ID:5128476 11969517 ITGB3 integrin subunit beta 3 gene DOID:9007096 Stroke ISO RGD:628868 D RGD:9068941 20200609 RGD PMID:15678115|REF_RGD_ID:2316358 11969517 ITGB3 integrin subunit beta 3 gene DOID:9007265 Hip Fractures ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17264806 11969517 ITGB3 integrin subunit beta 3 gene DOID:9007402 Gliosis ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12851778 11969517 ITGB3 integrin subunit beta 3 gene DOID:9007533 Hantavirus Infections ISO RGD:737483 D RGD:9068941 20200609 RGD PMID:15886525|REF_RGD_ID:6907410 11969517 ITGB3 integrin subunit beta 3 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1345363 D RGD:9068941 20200609 RGD associated with arteriosclerosis; DNA:polymorphism:exon PMID:20846430|REF_RGD_ID:5128476 11969517 ITGB3 integrin subunit beta 3 gene DOID:9008217 Hemorrhage ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16153930 11969517 ITGB3 integrin subunit beta 3 gene DOID:9008438 Glanzmann Thrombasthenia 2 ISO RGD:1345363 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glanzmann thrombasthenia 2 PMID:11806996|PMID:1371279|PMID:1438206|PMID:15583747|PMID:1602006|PMID:16199547|PMID:16463284|PMID:20020534|PMID:2014236|PMID:21917754|PMID:2392682|PMID:2428841|PMID:25539746|PMID:25728920|PMID:25741868|PMID:28492532|PMID:28983057|PMID:30138987|PMID:30828542|PMID:32757236|PMID:34355501|PMID:8080992|PMID:8471765|PMID:8781422|PMID:9160670|PMID:9215749|PMID:9351872|PMID:9376589|PMID:9845537 11969517 ITGB3 integrin subunit beta 3 gene DOID:9008438 Glanzmann Thrombasthenia 2 susceptibility ISO RGD:1345363 D RGD:7240710 20230517 OMIM 11969517 ITGB3 integrin subunit beta 3 gene DOID:9119 acute myeloid leukemia ISO RGD:737483 D RGD:9068941 20200609 RGD PMID:23770013|REF_RGD_ID:10755448 11969517 ITGB3 integrin subunit beta 3 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1345363 D RGD:9068941 20200609 RGD PMID:23770013|REF_RGD_ID:10755448 11969535 TMEM161B transmembrane protein 161B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603558 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11969535 TMEM161B transmembrane protein 161B gene DOID:630 genetic disease ISO RGD:1603558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11969535 TMEM161B transmembrane protein 161B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11969535 TMEM161B transmembrane protein 161B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603558 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11969562 FBXO5 F-box protein 5 gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:1319734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:28492532 11969562 FBXO5 F-box protein 5 gene DOID:630 genetic disease ISO RGD:1319734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11969582 STARD9 StAR related lipid transfer domain containing 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1349851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11969582 STARD9 StAR related lipid transfer domain containing 9 gene DOID:2717 Bloom syndrome ISO RGD:1349851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11969582 STARD9 StAR related lipid transfer domain containing 9 gene DOID:3312 bipolar disorder ISO RGD:1349851 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 11969582 STARD9 StAR related lipid transfer domain containing 9 gene DOID:630 genetic disease ISO RGD:1349851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11969582 STARD9 StAR related lipid transfer domain containing 9 gene DOID:9008086 Developmental Disabilities ISO RGD:1349851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11969582 STARD9 StAR related lipid transfer domain containing 9 gene DOID:9256 colorectal cancer ISO RGD:1349851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11969626 TMEM30A transmembrane protein 30A gene DOID:630 genetic disease ISO RGD:1345323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11969640 CRACDL CRACD like gene DOID:630 genetic disease ISO RGD:1602270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11969655 LBH LBH regulator of WNT signaling pathway gene DOID:630 genetic disease ISO RGD:1604281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11969655 LBH LBH regulator of WNT signaling pathway gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604281 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11969665 H1-4 H1.4 linker histone, cluster member gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1345558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11969665 H1-4 H1.4 linker histone, cluster member gene DOID:630 genetic disease ISO RGD:1345558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23945933|PMID:25081361|PMID:25741868|PMID:25741869|PMID:28475857|PMID:31447100|PMID:33270410 11969665 H1-4 H1.4 linker histone, cluster member gene DOID:9002839 Rahman Syndrome ISO RGD:1345558 D RGD:7240710 20190315 OMIM 11969665 H1-4 H1.4 linker histone, cluster member gene DOID:9002839 Rahman Syndrome ISO RGD:1345558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rahman syndrome PMID:23945933|PMID:25081361|PMID:25741868|PMID:25741869|PMID:28475857|PMID:28492532|PMID:29383847|PMID:29704315|PMID:31447100|PMID:33270410 11969665 H1-4 H1.4 linker histone, cluster member gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33270410 11969665 H1-4 H1.4 linker histone, cluster member gene DOID:9008582 Developmental Disease ISO RGD:1345558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11969665 H1-4 H1.4 linker histone, cluster member gene DOID:9538 multiple myeloma ISO RGD:1345558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11969674 NTAQ1 N-terminal glutamine amidase 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1602877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11969674 NTAQ1 N-terminal glutamine amidase 1 gene DOID:630 genetic disease ISO RGD:1602877 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11969705 CD55 CD55 molecule (Cromer blood group) gene DOID:0050589 inflammatory bowel disease ISO RGD:737499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 11969705 CD55 CD55 molecule (Cromer blood group) gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:737499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 11969705 CD55 CD55 molecule (Cromer blood group) gene DOID:10283 prostate cancer ISO RGD:737499 D RGD:9068941 20200609 RGD PMID:16533428|PMID:18288643|REF_RGD_ID:2326167|REF_RGD_ID:2326168 11969705 CD55 CD55 molecule (Cromer blood group) gene DOID:10611 protein-losing enteropathy ISO RGD:737499 D RGD:7240710 20190315 OMIM 11969705 CD55 CD55 molecule (Cromer blood group) gene DOID:10611 protein-losing enteropathy ISO RGD:737499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Protein-losing enteropathy PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:28657829|PMID:28657861|PMID:9536098 11969705 CD55 CD55 molecule (Cromer blood group) gene DOID:12849 autistic disorder ISO RGD:737499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11969705 CD55 CD55 molecule (Cromer blood group) gene DOID:1540 parathyroid carcinoma ISO RGD:737499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11969705 CD55 CD55 molecule (Cromer blood group) gene DOID:1612 breast cancer disease_progression ISO RGD:737499 D RGD:9068941 20200609 RGD PMID:15102687|PMID:18676748|REF_RGD_ID:2326166|REF_RGD_ID:2326170 11969705 CD55 CD55 molecule (Cromer blood group) gene DOID:2870 endometrial adenocarcinoma ISO RGD:737499 D RGD:9068941 20200609 RGD PMID:11506079|REF_RGD_ID:2326173 11969705 CD55 CD55 molecule (Cromer blood group) gene DOID:289 endometriosis ISO RGD:737499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 11969705 CD55 CD55 molecule (Cromer blood group) gene DOID:4362 cervical cancer ISO RGD:737499 D RGD:9068941 20200609 RGD PMID:9358772|REF_RGD_ID:2293549 11969705 CD55 CD55 molecule (Cromer blood group) gene DOID:576 proteinuria ISO RGD:620651 D RGD:9068941 20200609 RGD PMID:12427125|REF_RGD_ID:2326179 11969705 CD55 CD55 molecule (Cromer blood group) gene DOID:630 genetic disease ISO RGD:737499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11969705 CD55 CD55 molecule (Cromer blood group) gene DOID:670 amphetamine abuse ISO RGD:737499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11969705 CD55 CD55 molecule (Cromer blood group) gene DOID:769 neuroblastoma ISO RGD:620651 D RGD:9068941 20200609 RGD PMID:10850450|REF_RGD_ID:2326181 11969705 CD55 CD55 molecule (Cromer blood group) gene DOID:9000469 Viral Myocarditis treatment ISO RGD:737499 D RGD:9068941 20200609 RGD PMID:12533688|REF_RGD_ID:13702890 11969705 CD55 CD55 molecule (Cromer blood group) gene DOID:9004009 Reperfusion Injury ISO RGD:620651 D RGD:9068941 20200609 RGD PMID:20403613|REF_RGD_ID:2326175 11969705 CD55 CD55 molecule (Cromer blood group) gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:737499 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11969705 CD55 CD55 molecule (Cromer blood group) gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11969737 C8H8orf33 chromosome 8 C8orf33 homolog gene DOID:630 genetic disease ISO RGD:1606509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11969738 TLL1 tolloid like 1 gene DOID:0110111 atrial heart septal defect 6 ISO RGD:1314549 D RGD:7240710 20180130 OMIM 11969738 TLL1 tolloid like 1 gene DOID:0110111 atrial heart septal defect 6 ISO RGD:1314549 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Atrial septal defect 6 PMID:10331975|PMID:18830233|PMID:25741868|PMID:31570783 11969738 TLL1 tolloid like 1 gene DOID:1681 heart septal defect ISO RGD:1550401 D RGD:9068941 20230202 RGD PMID:10331975|REF_RGD_ID:155882595 11969738 TLL1 tolloid like 1 gene DOID:1682 congenital heart disease ISO RGD:1314549 D RGD:9068941 20230202 RGD DNA:insertion:exon:exon 10 (human) PMID:22883091|REF_RGD_ID:155882571 11969738 TLL1 tolloid like 1 gene DOID:3393 coronary artery disease severity ISO RGD:1314549 D RGD:9068941 20230202 RGD associated with type 2 diabetes:DNA:SNP:CDS:rs1503298 (human) PMID:21911782|REF_RGD_ID:155883159 11969738 TLL1 tolloid like 1 gene DOID:630 genetic disease ISO RGD:1314549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11969774 HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:0060543 Hermansky-Pudlak syndrome 5 ISO RGD:1323623 D RGD:7240710 20180130 OMIM 11969774 HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:0060543 Hermansky-Pudlak syndrome 5 ISO RGD:1323623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 5 PMID:12548288|PMID:15296495|PMID:21833017|PMID:22995991|PMID:23607980|PMID:24033266|PMID:24698632|PMID:25741868|PMID:26785811|PMID:28296950|PMID:28492532|PMID:28640947|PMID:31064749 11969774 HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1323623 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 11969774 HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:1059 intellectual disability ISO RGD:1323623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11969774 HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:1062 Fanconi syndrome ISO RGD:1323623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XI PMID:28492532 11969774 HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:2213 hemorrhagic disease ISO RGD:1323623 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:24033266|PMID:25741868|PMID:28492532 11969774 HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:2223 platelet storage pool deficiency ISO RGD:1323624 D RGD:9068941 20220825 MouseDO OMIM:185050 11969774 HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1323623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:12548288|PMID:15296495|PMID:16199547|PMID:21833017|PMID:23607980|PMID:24698632|PMID:25741868|PMID:26785811|PMID:28492532|PMID:28640947|PMID:31064749 11969774 HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:630 genetic disease ISO RGD:1323623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 11969774 HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:9003665 Glycogen Storage Disease XI ISO RGD:1323623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lactate dehydrogenase deficiency type A PMID:28492532 11969826 TMEM164 transmembrane protein 164 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11969826 TMEM164 transmembrane protein 164 gene DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ISO RGD:1604569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis PMID:21681106|PMID:27811305|PMID:28089922 11969826 TMEM164 transmembrane protein 164 gene DOID:12849 autistic disorder ISO RGD:1604569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11969826 TMEM164 transmembrane protein 164 gene DOID:5419 schizophrenia ISO RGD:1604569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11969826 TMEM164 transmembrane protein 164 gene DOID:630 genetic disease ISO RGD:1604569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11969826 TMEM164 transmembrane protein 164 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1604569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11969874 FAF2 Fas associated factor family member 2 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1604379 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11969874 FAF2 Fas associated factor family member 2 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1604379 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11969874 FAF2 Fas associated factor family member 2 gene DOID:630 genetic disease ISO RGD:1604379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11969874 FAF2 Fas associated factor family member 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604379 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 11969874 FAF2 Fas associated factor family member 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1604379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11969874 FAF2 Fas associated factor family member 2 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1604379 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 11969889 CMA1 chymase 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:735367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11969889 CMA1 chymase 1 gene DOID:10763 hypertension ISO RGD:735367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14620933 11969889 CMA1 chymase 1 gene DOID:11335 sarcoidosis ISO RGD:735367 D RGD:9068941 20200609 RGD DNA:snp:5' utr:g.-526C>T (human) PMID:16446531|REF_RGD_ID:5128561 11969889 CMA1 chymase 1 gene DOID:11984 hypertrophic cardiomyopathy susceptibility ISO RGD:735367 D RGD:9068941 20200609 RGD DNA:snp:5' utr:g.-1903G>A rs1800875 (human) PMID:8759823|REF_RGD_ID:5128572 11969889 CMA1 chymase 1 gene DOID:1591 renovascular hypertension ISO RGD:2365 D RGD:9068941 20211224 RGD protein:increased activity:kidney (rat) PMID:15869764|REF_RGD_ID:1581745 11969889 CMA1 chymase 1 gene DOID:1682 congenital heart disease ISO RGD:735367 D RGD:9068941 20200609 RGD protein:increased expression:lung interstitial tissue, vasculature, mast cell (human) PMID:10508822|REF_RGD_ID:5128660 11969889 CMA1 chymase 1 gene DOID:2841 asthma no_association ISO RGD:735367 D RGD:9068941 20200609 RGD DNA:polymorphism:5' utr:g.-1903G>A rs1800875 (human) PMID:15248847|REF_RGD_ID:1625397 11969889 CMA1 chymase 1 gene DOID:2841 asthma severity ISO RGD:735367 D RGD:9068941 20200609 RGD protein:increased expression:lung epithelium, mast cell (human) PMID:20813890|REF_RGD_ID:5128804 11969889 CMA1 chymase 1 gene DOID:2841 asthma susceptibility ISO RGD:735367 D RGD:9068941 20200609 RGD DNA:duplications:3' utr:g.*254-?dupTG, dupGA (human) PMID:15924217|REF_RGD_ID:1625396 11969889 CMA1 chymase 1 gene DOID:3082 interstitial lung disease ISO RGD:735367 D RGD:9068941 20200609 RGD protein:increased expression:lung, mast cell (human) PMID:17334631|REF_RGD_ID:5128816 11969889 CMA1 chymase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735367 D RGD:9068941 20200609 RGD protein:increased expression:respiratory tract epithelium, mast cell (human) PMID:18783610|REF_RGD_ID:5128552 11969889 CMA1 chymase 1 gene DOID:3310 atopic dermatitis ISO RGD:735367 D RGD:9068941 20200609 RGD DNA:polymorphism:5' utr:g.-1903G>A rs1800875 (human) PMID:16134991|REF_RGD_ID:1625394 11969889 CMA1 chymase 1 gene DOID:3770 pulmonary fibrosis ISO RGD:735367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15297733 11969889 CMA1 chymase 1 gene DOID:630 genetic disease ISO RGD:735367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11969889 CMA1 chymase 1 gene DOID:820 myocarditis ISO RGD:735368 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle (mouse) PMID:14578624|REF_RGD_ID:5128509 11969889 CMA1 chymase 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:735367 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11969889 CMA1 chymase 1 gene DOID:9002019 Granuloma ISO RGD:2365 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor (rat) PMID:15723097|REF_RGD_ID:5128499 11969889 CMA1 chymase 1 gene DOID:9003936 Cardiomegaly ISO RGD:735368 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle (mouse) PMID:11828013|REF_RGD_ID:5128508 11969889 CMA1 chymase 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:735367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14620933 11969889 CMA1 chymase 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:735367 D RGD:9068941 20200609 RGD human gene in mouse model PMID:14620933|REF_RGD_ID:5128600 11969889 CMA1 chymase 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:735367 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11969889 CMA1 chymase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2365 D RGD:9068941 20200609 RGD protein:increased expression:mesenteric artery, mast cell (rat) PMID:15337505|REF_RGD_ID:5128799 11969889 CMA1 chymase 1 gene DOID:9007278 Anaphylaxis ISO RGD:735367 D RGD:9068941 20200609 RGD protein:increased expression:lung, mast cell (human) PMID:17081716|REF_RGD_ID:5128820 11969889 CMA1 chymase 1 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:735367 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa, mast cell (human) PMID:11549546|REF_RGD_ID:5128839 11969897 LEAP2 liver enriched antimicrobial peptide 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601831 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11969897 LEAP2 liver enriched antimicrobial peptide 2 gene DOID:630 genetic disease ISO RGD:1601831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11969897 LEAP2 liver enriched antimicrobial peptide 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11969897 LEAP2 liver enriched antimicrobial peptide 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601831 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11969904 SLC25A18 solute carrier family 25 member 18 gene DOID:0111996 immunodeficiency 51 ISO RGD:1350192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11969904 SLC25A18 solute carrier family 25 member 18 gene DOID:630 genetic disease ISO RGD:1350192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11969904 SLC25A18 solute carrier family 25 member 18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11969904 SLC25A18 solute carrier family 25 member 18 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1350192 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11969939 BAD BCL2 associated agonist of cell death gene DOID:0080855 Parkinsonism ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:23251488|REF_RGD_ID:10053712 11969939 BAD BCL2 associated agonist of cell death gene DOID:0081292 traumatic brain injury treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:24582457|REF_RGD_ID:13782254 11969939 BAD BCL2 associated agonist of cell death gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:735541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11969939 BAD BCL2 associated agonist of cell death gene DOID:10286 prostate carcinoma ISO RGD:735541 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:11781193|REF_RGD_ID:2292676 11969939 BAD BCL2 associated agonist of cell death gene DOID:1059 intellectual disability ISO RGD:735541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11969939 BAD BCL2 associated agonist of cell death gene DOID:10652 Alzheimer's disease ISO RGD:735541 D RGD:9068941 20200609 RGD protein:increased expression:temporal cortex, membrane PMID:9507158|REF_RGD_ID:10053642 11969939 BAD BCL2 associated agonist of cell death gene DOID:10652 Alzheimer's disease treatment ISO RGD:733062 D RGD:9068941 20200609 RGD PMID:15339646|REF_RGD_ID:10053639 11969939 BAD BCL2 associated agonist of cell death gene DOID:10763 hypertension treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:20065158|REF_RGD_ID:10053702 11969939 BAD BCL2 associated agonist of cell death gene DOID:10808 gastric ulcer treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:24378970|REF_RGD_ID:10053695 11969939 BAD BCL2 associated agonist of cell death gene DOID:11132 prostatic hypertrophy ISO RGD:735541 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:11781193|REF_RGD_ID:2292676 11969939 BAD BCL2 associated agonist of cell death gene DOID:11832 visual epilepsy ISO RGD:620103 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:hippocampus PMID:15968425|REF_RGD_ID:2292693 11969939 BAD BCL2 associated agonist of cell death gene DOID:1240 leukemia ISO RGD:735541 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12970779 11969939 BAD BCL2 associated agonist of cell death gene DOID:1380 endometrial cancer disease progression ISO RGD:735541 D RGD:9068941 20200609 RGD protein:altered expression:endometrium (human) PMID:24645842|REF_RGD_ID:13432164 11969939 BAD BCL2 associated agonist of cell death gene DOID:1459 hypothyroidism ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:22513421|REF_RGD_ID:10053713 11969939 BAD BCL2 associated agonist of cell death gene DOID:1612 breast cancer disease_progression ISO RGD:735541 D RGD:9068941 20200609 RGD PMID:17004114|REF_RGD_ID:2292674 11969939 BAD BCL2 associated agonist of cell death gene DOID:1686 glaucoma ISO RGD:620103 D RGD:9068941 20200609 RGD protein:decreased serine phosphorylation:retina PMID:16103353|REF_RGD_ID:2292690 11969939 BAD BCL2 associated agonist of cell death gene DOID:1793 pancreatic cancer treatment ISO RGD:735541 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:23523869|REF_RGD_ID:13451129 11969939 BAD BCL2 associated agonist of cell death gene DOID:1875 impotence treatment ISO RGD:620103 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21235725|REF_RGD_ID:10053666 11969939 BAD BCL2 associated agonist of cell death gene DOID:219 colon cancer treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:21214291|REF_RGD_ID:10053668 11969939 BAD BCL2 associated agonist of cell death gene DOID:224 transient cerebral ischemia ISO RGD:735541 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12629175 11969939 BAD BCL2 associated agonist of cell death gene DOID:2316 brain ischemia ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:22843461|REF_RGD_ID:10053716 11969939 BAD BCL2 associated agonist of cell death gene DOID:2316 brain ischemia ISO RGD:620103 D RGD:9068941 20200609 RGD protein:decreased serine phosphorylation:brain PMID:18078455|REF_RGD_ID:2292681 11969939 BAD BCL2 associated agonist of cell death gene DOID:3021 acute kidney failure treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:20037173|REF_RGD_ID:10053672 11969939 BAD BCL2 associated agonist of cell death gene DOID:3070 high grade glioma ISO RGD:735541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11969939 BAD BCL2 associated agonist of cell death gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:733062 D RGD:9068941 20200609 RGD PMID:10582606|REF_RGD_ID:13506907 11969939 BAD BCL2 associated agonist of cell death gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:21891976|PMID:22200499|REF_RGD_ID:10053665|REF_RGD_ID:10053704 11969939 BAD BCL2 associated agonist of cell death gene DOID:3669 intermittent claudication ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:23658678|REF_RGD_ID:9586024 11969939 BAD BCL2 associated agonist of cell death gene DOID:3770 pulmonary fibrosis ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:18198484|REF_RGD_ID:2292680 11969939 BAD BCL2 associated agonist of cell death gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735541 D RGD:9068941 20200609 RGD PMID:24092988|REF_RGD_ID:13434906 11969939 BAD BCL2 associated agonist of cell death gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735541 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:21918885|REF_RGD_ID:13432584 11969939 BAD BCL2 associated agonist of cell death gene DOID:4448 macular degeneration severity ISO RGD:735541 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor PMID:22773904|REF_RGD_ID:10053644 11969939 BAD BCL2 associated agonist of cell death gene DOID:4450 renal cell carcinoma ISO RGD:735541 D RGD:9068941 20200609 RGD PMID:15851405|REF_RGD_ID:2292677 11969939 BAD BCL2 associated agonist of cell death gene DOID:630 genetic disease ISO RGD:735541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11969939 BAD BCL2 associated agonist of cell death gene DOID:8398 osteoarthritis ISO RGD:735541 D RGD:9068941 20200609 RGD PMID:19217321|REF_RGD_ID:10053643 11969939 BAD BCL2 associated agonist of cell death gene DOID:9000998 Brain Injuries ISO RGD:620103 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex PMID:15941375|REF_RGD_ID:2292694 11969939 BAD BCL2 associated agonist of cell death gene DOID:9001708 Hemorrhagic Shock ISO RGD:620103 D RGD:9068941 20200609 RGD protein:decreased serine phosphorylation:lung PMID:15345971|REF_RGD_ID:2292699 11969939 BAD BCL2 associated agonist of cell death gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:23056591|REF_RGD_ID:10053711 11969939 BAD BCL2 associated agonist of cell death gene DOID:9002138 Spinal Cord Reperfusion Injury treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:23643992|REF_RGD_ID:10053660 11969939 BAD BCL2 associated agonist of cell death gene DOID:9002159 Liver Reperfusion Injury ISO RGD:620103 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:22647552|REF_RGD_ID:10053673 11969939 BAD BCL2 associated agonist of cell death gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:620103 D RGD:9068941 20200609 RGD associated with Non-alcoholic Fatty Liver Disease PMID:22847887|REF_RGD_ID:10053710 11969939 BAD BCL2 associated agonist of cell death gene DOID:9002304 Prostatic Neoplasms ISO RGD:733062 D RGD:9068941 20200609 RGD PMID:17607361|REF_RGD_ID:2292673 11969939 BAD BCL2 associated agonist of cell death gene DOID:9002304 Prostatic Neoplasms ISO RGD:735541 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17542986|PMID:19593445 11969939 BAD BCL2 associated agonist of cell death gene DOID:9003936 Cardiomegaly treatment ISO RGD:620103 D RGD:9068941 20200609 RGD associated with Hypertension PMID:21921241|REF_RGD_ID:10053646 11969939 BAD BCL2 associated agonist of cell death gene DOID:9004009 Reperfusion Injury ISO RGD:620103 D RGD:9068941 20200609 RGD protein:altered localization:brain, mitochondria PMID:18347331|REF_RGD_ID:2292679 11969939 BAD BCL2 associated agonist of cell death gene DOID:9004484 Sepsis ISO RGD:620103 D RGD:9068941 20200609 RGD protein:increased localization:mitochondrion PMID:24011917|REF_RGD_ID:10053647 11969939 BAD BCL2 associated agonist of cell death gene DOID:9004484 Sepsis treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:22683079|REF_RGD_ID:10053707 11969939 BAD BCL2 associated agonist of cell death gene DOID:9004953 Diabetic Cystopathy treatment ISO RGD:620103 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23129268|REF_RGD_ID:10053664 11969939 BAD BCL2 associated agonist of cell death gene DOID:9005233 Experimental Mammary Neoplasms severity ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:20732338|REF_RGD_ID:10053708 11969939 BAD BCL2 associated agonist of cell death gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:23404339|REF_RGD_ID:10053670 11969939 BAD BCL2 associated agonist of cell death gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620103 D RGD:9068941 20200609 RGD protein:decreased serine phosphorylation:cornea PMID:21330660|REF_RGD_ID:5131482 11969939 BAD BCL2 associated agonist of cell death gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620103 D RGD:9068941 20200609 RGD protein:increased expression, decreased phosphorylation, altered activity:testis PMID:17870134|REF_RGD_ID:2292685 11969939 BAD BCL2 associated agonist of cell death gene DOID:9006190 Chronic Pancreatitis severity ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:22549003|REF_RGD_ID:10053701 11969939 BAD BCL2 associated agonist of cell death gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:620103 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21296063|REF_RGD_ID:10053697 11969939 BAD BCL2 associated agonist of cell death gene DOID:9007334 Small-For-Size Syndrome treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:22151301|REF_RGD_ID:10053671 11969939 BAD BCL2 associated agonist of cell death gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:25447754|REF_RGD_ID:10053709 11969939 BAD BCL2 associated agonist of cell death gene DOID:9007692 Insulin Resistance ISO RGD:620103 D RGD:9068941 20200609 RGD protein:decreased phosphorylation, increased dimerization, increased glycosylation:heart PMID:21385329|REF_RGD_ID:10053645 11969939 BAD BCL2 associated agonist of cell death gene DOID:9007730 Burns ISO RGD:620103 D RGD:9068941 20200609 RGD protein:increased expression:neutrophil PMID:15625305|REF_RGD_ID:2292697 11969939 BAD BCL2 associated agonist of cell death gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620103 D RGD:9068941 20200609 RGD protein:increased expression, decreased serine phosphorylation:heart PMID:15339931|REF_RGD_ID:2292700 11969939 BAD BCL2 associated agonist of cell death gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:23364609|REF_RGD_ID:10053674 11969939 BAD BCL2 associated agonist of cell death gene DOID:9352 type 2 diabetes mellitus ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:23032698|REF_RGD_ID:10053698 11969939 BAD BCL2 associated agonist of cell death gene DOID:9743 diabetic neuropathy treatment ISO RGD:620103 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24288572|REF_RGD_ID:10053667 11969939 BAD BCL2 associated agonist of cell death gene DOID:9970 obesity ISO RGD:620103 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle PMID:18070754|REF_RGD_ID:2292682 11969950 OSBPL5 oxysterol binding protein like 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11969950 OSBPL5 oxysterol binding protein like 5 gene DOID:0080773 delta beta-thalassemia ISO RGD:1318150 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11969950 OSBPL5 oxysterol binding protein like 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11969950 OSBPL5 oxysterol binding protein like 5 gene DOID:630 genetic disease ISO RGD:1318150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11969975 CLSTN3 calsyntenin 3 gene DOID:0060041 autism spectrum disorder ISO RGD:732033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11969975 CLSTN3 calsyntenin 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:732033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11969975 CLSTN3 calsyntenin 3 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:732033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11969975 CLSTN3 calsyntenin 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:732033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11969975 CLSTN3 calsyntenin 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:732033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11969975 CLSTN3 calsyntenin 3 gene DOID:0111621 Temtamy syndrome ISO RGD:732033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11969975 CLSTN3 calsyntenin 3 gene DOID:630 genetic disease ISO RGD:732033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11969975 CLSTN3 calsyntenin 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:732033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11970000 GALNTL5 polypeptide N-acetylgalactosaminyltransferase like 5 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1351459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:18348270|PMID:25606385|PMID:28492532 11970000 GALNTL5 polypeptide N-acetylgalactosaminyltransferase like 5 gene DOID:12336 male infertility ISO RGD:1351459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 11970000 GALNTL5 polypeptide N-acetylgalactosaminyltransferase like 5 gene DOID:2843 long QT syndrome ISO RGD:1351459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11970000 GALNTL5 polypeptide N-acetylgalactosaminyltransferase like 5 gene DOID:37 skin disease ISO RGD:1351459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28720099 11970000 GALNTL5 polypeptide N-acetylgalactosaminyltransferase like 5 gene DOID:630 genetic disease ISO RGD:1351459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11970016 TAF7L TATA-box binding protein associated factor 7 like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11970016 TAF7L TATA-box binding protein associated factor 7 like gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1350801 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 11970016 TAF7L TATA-box binding protein associated factor 7 like gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1350801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 11970016 TAF7L TATA-box binding protein associated factor 7 like gene DOID:12849 autistic disorder ISO RGD:1350801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11970016 TAF7L TATA-box binding protein associated factor 7 like gene DOID:14499 Fabry disease ISO RGD:1350801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:10666480|PMID:12175777|PMID:28492532 11970016 TAF7L TATA-box binding protein associated factor 7 like gene DOID:630 genetic disease ISO RGD:1350801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11970016 TAF7L TATA-box binding protein associated factor 7 like gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1350801 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 11970033 CCDC172 coiled-coil domain containing 172 gene DOID:0050778 Meckel syndrome ISO RGD:1346141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome 11970033 CCDC172 coiled-coil domain containing 172 gene DOID:630 genetic disease ISO RGD:1346141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11970046 WDR72 WD repeat domain 72 gene DOID:0110056 amelogenesis imperfecta type 1C ISO RGD:1602418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive PMID:25741868 11970046 WDR72 WD repeat domain 72 gene DOID:0110061 amelogenesis imperfecta hypomaturation type 2A3 ISO RGD:1602418 D RGD:7240710 20180130 OMIM 11970046 WDR72 WD repeat domain 72 gene DOID:0110061 amelogenesis imperfecta hypomaturation type 2A3 ISO RGD:1602418 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A3 PMID:19853237|PMID:20938048|PMID:24033266|PMID:25741868|PMID:30028003 11970046 WDR72 WD repeat domain 72 gene DOID:14219 renal tubular acidosis ISO RGD:1602418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:31959358 11970046 WDR72 WD repeat domain 72 gene DOID:2187 amelogenesis imperfecta ISO RGD:1602418 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta PMID:24033266|PMID:25741868 11970046 WDR72 WD repeat domain 72 gene DOID:2717 Bloom syndrome ISO RGD:1602418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11970046 WDR72 WD repeat domain 72 gene DOID:607 paraplegia ISO RGD:1602418 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 11970046 WDR72 WD repeat domain 72 gene DOID:630 genetic disease ISO RGD:1602418 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11970046 WDR72 WD repeat domain 72 gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:1602418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets PMID:31959358 11970046 WDR72 WD repeat domain 72 gene DOID:9007406 Distal Renal Tubular Acidosis ISO RGD:1602418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:31959358 11970046 WDR72 WD repeat domain 72 gene DOID:9007818 Distal Renal Tubular Acidosis 4 with Hemolytic Anemia ISO RGD:1602418 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal tubular acidosis, distal, 4, with hemolytic anemia PMID:25741868|PMID:30028003 11970046 WDR72 WD repeat domain 72 gene DOID:9256 colorectal cancer ISO RGD:1602418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11970081 SKIC3 SKI3 subunit of superkiller complex gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314461 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11970081 SKIC3 SKI3 subunit of superkiller complex gene DOID:0111414 trichohepatoenteric syndrome ISO RGD:1314461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichohepatoenteric syndrome PMID:24033266 11970081 SKIC3 SKI3 subunit of superkiller complex gene DOID:0111415 trichohepatoenteric syndrome 1 ISO RGD:1314461 D RGD:7240710 20180130 OMIM 11970081 SKIC3 SKI3 subunit of superkiller complex gene DOID:0111415 trichohepatoenteric syndrome 1 ISO RGD:1314461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 PMID:16199547|PMID:20176027|PMID:21120949|PMID:23326254|PMID:25326635|PMID:25714577|PMID:25741868|PMID:28292286|PMID:28492532|PMID:28750028|PMID:29527791|PMID:34093558 11970081 SKIC3 SKI3 subunit of superkiller complex gene DOID:10283 prostate cancer ISO RGD:1314461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11970081 SKIC3 SKI3 subunit of superkiller complex gene DOID:612 primary immunodeficiency disease ISO RGD:1314461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:20176027|PMID:21120949|PMID:25741868|PMID:28492532 11970081 SKIC3 SKI3 subunit of superkiller complex gene DOID:630 genetic disease ISO RGD:1314461 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11970081 SKIC3 SKI3 subunit of superkiller complex gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11970081 SKIC3 SKI3 subunit of superkiller complex gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314461 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11970134 KRT25 keratin 25 gene DOID:0110705 hypotrichosis 8 ISO RGD:1353851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotrichosis 8 PMID:24824130|PMID:26160856 11970134 KRT25 keratin 25 gene DOID:0111574 autosomal recessive woolly hair 3 ISO RGD:1353851 D RGD:7240710 20190315 OMIM 11970134 KRT25 keratin 25 gene DOID:0111574 autosomal recessive woolly hair 3 ISO RGD:1353851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Woolly hair, autosomal recessive 3 PMID:24824130|PMID:26160856|PMID:26902920 11970134 KRT25 keratin 25 gene DOID:630 genetic disease ISO RGD:1353851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11970134 KRT25 keratin 25 gene DOID:9001083 Autosomal Recessive Woolly Hair ISO RGD:1353851 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11970146 CHCHD4 coiled-coil-helix-coiled-coil-helix domain containing 4 gene DOID:0060417 3p deletion syndrome ISO RGD:1321831 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 11970146 CHCHD4 coiled-coil-helix-coiled-coil-helix domain containing 4 gene DOID:630 genetic disease ISO RGD:1321831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11970157 CDCP2 CUB domain containing protein 2 gene DOID:630 genetic disease ISO RGD:1603885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11970165 TRAFD1 TRAF-type zinc finger domain containing 1 gene DOID:630 genetic disease ISO RGD:1605702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11970165 TRAFD1 TRAF-type zinc finger domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11970204 APOC4 apolipoprotein C4 gene DOID:630 genetic disease ISO RGD:736043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11970204 APOC4 apolipoprotein C4 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736043 D RGD:9068941 20220908 RGD associated with hepatitis B; PMID:31211449|REF_RGD_ID:153350082 11970212 ZNF343 zinc finger protein 343 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1344905 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11970212 ZNF343 zinc finger protein 343 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1344905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11970212 ZNF343 zinc finger protein 343 gene DOID:630 genetic disease ISO RGD:1344905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11970226 IL1RAPL1 interleukin 1 receptor accessory protein like 1 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:735979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability 11970226 IL1RAPL1 interleukin 1 receptor accessory protein like 1 gene DOID:0060041 autism spectrum disorder ISO RGD:735979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20479760 11970226 IL1RAPL1 interleukin 1 receptor accessory protein like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11970226 IL1RAPL1 interleukin 1 receptor accessory protein like 1 gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:735979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked PMID:17504899|PMID:20685758|PMID:21408189|PMID:26980296|PMID:28492532 11970226 IL1RAPL1 interleukin 1 receptor accessory protein like 1 gene DOID:0112022 non-syndromic X-linked intellectual disability 21 ISO RGD:735979 D RGD:7240710 20180130 OMIM 11970226 IL1RAPL1 interleukin 1 receptor accessory protein like 1 gene DOID:0112022 non-syndromic X-linked intellectual disability 21 ISO RGD:735979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 21 | ClinVar Annotator: match by term: Mental retardation, X-linked 21/34 PMID:10471494|PMID:16470793|PMID:18801879|PMID:19012350|PMID:21484992|PMID:25741868|PMID:28492532|PMID:8230164 11970226 IL1RAPL1 interleukin 1 receptor accessory protein like 1 gene DOID:1059 intellectual disability ISO RGD:735979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25167861|PMID:25741868 11970226 IL1RAPL1 interleukin 1 receptor accessory protein like 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:735979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:12632325|PMID:19937601|PMID:22510846|PMID:23453023|PMID:24302611|PMID:24504883|PMID:28492532|PMID:31705731 11970226 IL1RAPL1 interleukin 1 receptor accessory protein like 1 gene DOID:12849 autistic disorder ISO RGD:735979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11970226 IL1RAPL1 interleukin 1 receptor accessory protein like 1 gene DOID:1909 melanoma ISO RGD:735979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11970226 IL1RAPL1 interleukin 1 receptor accessory protein like 1 gene DOID:5419 schizophrenia ISO RGD:735979 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11970226 IL1RAPL1 interleukin 1 receptor accessory protein like 1 gene DOID:630 genetic disease ISO RGD:735979 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12783849|PMID:25741868|PMID:28492532 11970226 IL1RAPL1 interleukin 1 receptor accessory protein like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11970226 IL1RAPL1 interleukin 1 receptor accessory protein like 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:735979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18801879 11970226 IL1RAPL1 interleukin 1 receptor accessory protein like 1 gene DOID:9008582 Developmental Disease ISO RGD:735979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11970238 EPG5 ectopic P-granules 5 autophagy tethering factor gene DOID:0050700 cardiomyopathy ISO RGD:1347008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23222957 11970238 EPG5 ectopic P-granules 5 autophagy tethering factor gene DOID:0060356 Vici syndrome ISO RGD:1347008 D RGD:7240710 20180130 OMIM 11970238 EPG5 ectopic P-granules 5 autophagy tethering factor gene DOID:0060356 Vici syndrome ISO RGD:1347008 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23222957|PMID:23674064|PMID:24033266|PMID:25331754|PMID:25640679|PMID:25741868|PMID:26854214|PMID:26917586|PMID:27343256|PMID:27577878|PMID:28168853|PMID:28492532|PMID:28615637|PMID:28939701|PMID:29130391|PMID:31184778|PMID:31625567|PMID:31981491|PMID:32313153|PMID:33365035|PMID:3344762|PMID:9536098 11970238 EPG5 ectopic P-granules 5 autophagy tethering factor gene DOID:10584 retinitis pigmentosa ISO RGD:1347008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic retinitis pigmentosa 11970238 EPG5 ectopic P-granules 5 autophagy tethering factor gene DOID:1059 intellectual disability ISO RGD:1347008 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11970238 EPG5 ectopic P-granules 5 autophagy tethering factor gene DOID:10907 microcephaly ISO RGD:1347008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11970238 EPG5 ectopic P-granules 5 autophagy tethering factor gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1314820 D RGD:9068941 20220825 MouseDO 11970238 EPG5 ectopic P-granules 5 autophagy tethering factor gene DOID:612 primary immunodeficiency disease ISO RGD:1347008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23222957 11970238 EPG5 ectopic P-granules 5 autophagy tethering factor gene DOID:630 genetic disease ISO RGD:1347008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23222957|PMID:23674064|PMID:25741868|PMID:28492532|PMID:31625567|PMID:9536098 11970238 EPG5 ectopic P-granules 5 autophagy tethering factor gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1347008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 11970238 EPG5 ectopic P-granules 5 autophagy tethering factor gene DOID:9005660 Hypopigmentation ISO RGD:1347008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23222957 11970238 EPG5 ectopic P-granules 5 autophagy tethering factor gene DOID:9008086 Developmental Disabilities ISO RGD:1347008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:28492532 11970307 ANKRD44 ankyrin repeat domain 44 gene DOID:630 genetic disease ISO RGD:1605602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11970307 ANKRD44 ankyrin repeat domain 44 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11970345 SALL4 spalt like transcription factor 4 gene DOID:0060468 Holt-Oram syndrome ISO RGD:1351271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30067223 11970345 SALL4 spalt like transcription factor 4 gene DOID:0060468 Holt-Oram syndrome ISO RGD:1351271 D RGD:9068941 20200609 RGD DNA:deletion, nonsense mutations:exon:c.326delC, p.K175X, p.R617X (human) PMID:12843316|REF_RGD_ID:11556209 11970345 SALL4 spalt like transcription factor 4 gene DOID:0060747 Duane-radial ray syndrome ISO RGD:1351271 D RGD:7240710 20180425 OMIM 11970345 SALL4 spalt like transcription factor 4 gene DOID:0060747 Duane-radial ray syndrome ISO RGD:1351271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duane-radial ray syndrome PMID:11826030|PMID:12393809|PMID:12395297|PMID:12789647|PMID:12843316|PMID:12868480|PMID:15342710|PMID:16086360|PMID:16199547|PMID:16402211|PMID:16411190|PMID:17576681|PMID:22382802|PMID:25741868|PMID:26571382|PMID:26791099|PMID:27661448|PMID:28166811|PMID:28492532|PMID:31502745|PMID:8025439|PMID:8287186|PMID:843249|PMID:9536098 11970345 SALL4 spalt like transcription factor 4 gene DOID:0080074 neural tube defect ISO RGD:1619916 D RGD:9068941 20200609 RGD PMID:18818376|REF_RGD_ID:11556229 11970345 SALL4 spalt like transcription factor 4 gene DOID:0111381 IVIC syndrome ISO RGD:1351271 D RGD:7240710 20180130 OMIM 11970345 SALL4 spalt like transcription factor 4 gene DOID:0111381 IVIC syndrome ISO RGD:1351271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders PMID:17256792|PMID:25741868|PMID:28492532|PMID:7395922 11970345 SALL4 spalt like transcription factor 4 gene DOID:10754 otitis media ISO RGD:1619916 D RGD:9068941 20220825 MouseDO OMIM:166760 11970345 SALL4 spalt like transcription factor 4 gene DOID:12557 Duane retraction syndrome ISO RGD:1351271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16402211|PMID:30067223 11970345 SALL4 spalt like transcription factor 4 gene DOID:12557 Duane retraction syndrome ISO RGD:1351271 D RGD:9068941 20200609 RGD DNA:deletions, nonsense mutation:cds:c.1904delT, c.2425delG, p.R865X (human) PMID:12395297|REF_RGD_ID:11556232 11970345 SALL4 spalt like transcription factor 4 gene DOID:12557 Duane retraction syndrome ISO RGD:1351271 D RGD:9068941 20200609 RGD DNA:duplication:cds:c.410dupG (human) PMID:26791099|REF_RGD_ID:11532205 11970345 SALL4 spalt like transcription factor 4 gene DOID:12557 Duane retraction syndrome ISO RGD:1351271 D RGD:9068941 20200609 RGD DNA:frameshift mutation:cds:p.M640IfsX25 (human) PMID:23687435|REF_RGD_ID:11556211 11970345 SALL4 spalt like transcription factor 4 gene DOID:12557 Duane retraction syndrome ISO RGD:1351271 D RGD:9068941 20200609 RGD DNA:nonsense mutation:cds:p.R905X (human) PMID:16411190|REF_RGD_ID:11556231 11970345 SALL4 spalt like transcription factor 4 gene DOID:12557 Duane retraction syndrome ISO RGD:1351271 D RGD:9068941 20200609 RGD DNA:snps, deletions, insertion:multiple (human) PMID:12393809|REF_RGD_ID:11556210 11970345 SALL4 spalt like transcription factor 4 gene DOID:12557 Duane retraction syndrome ISO RGD:1619916 D RGD:9068941 20200609 RGD PMID:17216607|REF_RGD_ID:11556215 11970345 SALL4 spalt like transcription factor 4 gene DOID:1657 ventricular septal defect ISO RGD:1351271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30067223 11970345 SALL4 spalt like transcription factor 4 gene DOID:1657 ventricular septal defect ISO RGD:1351271 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.R196W, p.S797C (human) PMID:19619907|REF_RGD_ID:11556206 11970345 SALL4 spalt like transcription factor 4 gene DOID:1911 endodermal sinus tumor ISO RGD:1351271 D RGD:9068941 20200609 RGD protein:increased expression:testis, nucleus (human) PMID:23347651|REF_RGD_ID:11557983 11970345 SALL4 spalt like transcription factor 4 gene DOID:2156 ovarian germ cell cancer ISO RGD:1351271 D RGD:9068941 20200609 RGD protein:increased expression:female gonad (human) PMID:19295406|REF_RGD_ID:11556233 11970345 SALL4 spalt like transcription factor 4 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1351271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30431698 11970345 SALL4 spalt like transcription factor 4 gene DOID:630 genetic disease ISO RGD:1351271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11970345 SALL4 spalt like transcription factor 4 gene DOID:687 hepatoblastoma ISO RGD:1351271 D RGD:9068941 20200609 RGD Embryonal Hepatoblastoma;protein:increased expression:liver (human) PMID:23822878|REF_RGD_ID:11556217 11970345 SALL4 spalt like transcription factor 4 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1351271 D RGD:9068941 20200609 RGD protein:increased expression:testis (human) PMID:19390421|REF_RGD_ID:11556205 11970345 SALL4 spalt like transcription factor 4 gene DOID:9004994 Embryo Loss ISO RGD:1619916 D RGD:9068941 20221103 RGD PMID:16790473|REF_RGD_ID:155631313 11970345 SALL4 spalt like transcription factor 4 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1351271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30067223 11970345 SALL4 spalt like transcription factor 4 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1351271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16402211 11970353 CIMIP1 ciliary microtubule inner protein 1 gene DOID:630 genetic disease ISO RGD:1342910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11970361 PAX7 paired box 7 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604064 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11970361 PAX7 paired box 7 gene DOID:4051 alveolar rhabdomyosarcoma ISO RGD:1604064 D RGD:7240710 20180130 OMIM 11970361 PAX7 paired box 7 gene DOID:4051 alveolar rhabdomyosarcoma ISO RGD:1604064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma | ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2 PMID:25741868|PMID:31092906|PMID:32214227 11970361 PAX7 paired box 7 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1604064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11970361 PAX7 paired box 7 gene DOID:630 genetic disease ISO RGD:1604064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11970361 PAX7 paired box 7 gene DOID:9002481 Congenital Myopathy 19 ISO RGD:1604064 D RGD:7240710 20191016 OMIM 11970361 PAX7 paired box 7 gene DOID:9002481 Congenital Myopathy 19 ISO RGD:1604064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, progressive, with scoliosis PMID:25741868|PMID:31092906|PMID:32214227 11970389 PTPN3 protein tyrosine phosphatase non-receptor type 3 gene DOID:10283 prostate cancer ISO RGD:1322781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11970389 PTPN3 protein tyrosine phosphatase non-receptor type 3 gene DOID:630 genetic disease ISO RGD:1322781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11970389 PTPN3 protein tyrosine phosphatase non-receptor type 3 gene DOID:9775 diastolic heart failure ISO RGD:1322781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 11970428 GAN gigaxonin gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1317147 D RGD:7240710 20180221 OMIM 11970428 GAN gigaxonin gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1317147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:11053687|PMID:11062483|PMID:11971098|PMID:12655563|PMID:12668605|PMID:14718689|PMID:15897506|PMID:16199547|PMID:17331252|PMID:17576681|PMID:17578852|PMID:17587580|PMID:19231187|PMID:19295179|PMID:20949505|PMID:21356581|PMID:2153943|PMID:23248352|PMID:23316953|PMID:23332420|PMID:23585478|PMID:23890932|PMID:24464710|PMID:24627108|PMID:24758703|PMID:25025039|PMID:25040701|PMID:25326635|PMID:25741868|PMID:26392352|PMID:28492532|PMID:29876741|PMID:30373780|PMID:30532362|PMID:32999401|PMID:9536098 11970428 GAN gigaxonin gene DOID:1059 intellectual disability ISO RGD:1317147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 11970428 GAN gigaxonin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1317147 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:24627108|PMID:25025039|PMID:25741868|PMID:28492532 11970428 GAN gigaxonin gene DOID:574 peripheral nervous system disease ISO RGD:1317147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:24758703|PMID:25741868|PMID:28492532 11970428 GAN gigaxonin gene DOID:630 genetic disease ISO RGD:1317147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11062483|PMID:12655563|PMID:12668605|PMID:14718689|PMID:16199547|PMID:17331252|PMID:17576681|PMID:17578852|PMID:20949505|PMID:23248352|PMID:23332420|PMID:23585478|PMID:23890932|PMID:24758703|PMID:25025039|PMID:25741868|PMID:26392352|PMID:28492532|PMID:32999401|PMID:9536098 11970428 GAN gigaxonin gene DOID:870 neuropathy ISO RGD:1317147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:24758703|PMID:25741868|PMID:28492532 11970428 GAN gigaxonin gene DOID:9000462 Giant Axonal Neuropathy ISO RGD:1317147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11970428 GAN gigaxonin gene DOID:9005603 Muscle Hypotonia ISO RGD:1317147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotonia 11970450 NOVA2 NOVA alternative splicing regulator 2 gene DOID:1059 intellectual disability ISO RGD:1317566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25167861|PMID:32197073 11970450 NOVA2 NOVA alternative splicing regulator 2 gene DOID:630 genetic disease ISO RGD:1317566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11970450 NOVA2 NOVA alternative splicing regulator 2 gene DOID:9001712 Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities ISO RGD:1317566 D RGD:7240710 20200812 OMIM 11970450 NOVA2 NOVA alternative splicing regulator 2 gene DOID:9001712 Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities ISO RGD:1317566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities PMID:25167861|PMID:25741868|PMID:32197073 11970467 PROX1 prospero homeobox 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1315764 D RGD:9068941 20220825 MouseDO 11970467 PROX1 prospero homeobox 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1315763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11970467 PROX1 prospero homeobox 1 gene DOID:1824 status epilepticus ISO RGD:1306890 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus hilus PMID:17042797|REF_RGD_ID:5133273 11970467 PROX1 prospero homeobox 1 gene DOID:630 genetic disease ISO RGD:1315763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11970467 PROX1 prospero homeobox 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1315763 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17415710 11970467 PROX1 prospero homeobox 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11970467 PROX1 prospero homeobox 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1315763 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20081858 11970467 PROX1 prospero homeobox 1 gene DOID:9970 obesity ISO RGD:1315764 D RGD:9068941 20220825 MouseDO OMIM:601665 11970485 HNRNPF heterogeneous nuclear ribonucleoprotein F gene DOID:630 genetic disease ISO RGD:1349083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11970485 HNRNPF heterogeneous nuclear ribonucleoprotein F gene DOID:9432 renal glycosuria ISO RGD:731709 D RGD:9068941 20220825 MouseDO OMIM:233100 11970558 MAST1 microtubule associated serine/threonine kinase 1 gene DOID:0050671 female breast cancer susceptibility ISO RGD:1354102 D RGD:9068941 20220609 RGD DNA:missense mutation:cds: (human) PMID:30303537|REF_RGD_ID:152995259 11970558 MAST1 microtubule associated serine/threonine kinase 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1354102 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11970558 MAST1 microtubule associated serine/threonine kinase 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1354102 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11970558 MAST1 microtubule associated serine/threonine kinase 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1354102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11970558 MAST1 microtubule associated serine/threonine kinase 1 gene DOID:0111403 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations ISO RGD:1354102 D RGD:7240710 20190417 OMIM 11970558 MAST1 microtubule associated serine/threonine kinase 1 gene DOID:0111403 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations ISO RGD:1354102 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations PMID:25741868|PMID:28492532|PMID:30449657|PMID:32198973 11970558 MAST1 microtubule associated serine/threonine kinase 1 gene DOID:1059 intellectual disability ISO RGD:1354102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11970558 MAST1 microtubule associated serine/threonine kinase 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1354102 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11970558 MAST1 microtubule associated serine/threonine kinase 1 gene DOID:630 genetic disease ISO RGD:1354102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12614677|PMID:25741868|PMID:28492532 11970558 MAST1 microtubule associated serine/threonine kinase 1 gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1354102 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 PMID:28492532 11970602 VPS51 VPS51 subunit of GARP complex gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1351540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11970602 VPS51 VPS51 subunit of GARP complex gene DOID:0112332 pontocerebellar hypoplasia type 13 ISO RGD:1351540 D RGD:7240710 20191030 OMIM 11970602 VPS51 VPS51 subunit of GARP complex gene DOID:0112332 pontocerebellar hypoplasia type 13 ISO RGD:1351540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 13 PMID:25741868|PMID:30624672|PMID:31207318 11970602 VPS51 VPS51 subunit of GARP complex gene DOID:1059 intellectual disability ISO RGD:1351540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11970602 VPS51 VPS51 subunit of GARP complex gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1351540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11970602 VPS51 VPS51 subunit of GARP complex gene DOID:2746 glycogen storage disease V ISO RGD:1351540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11970602 VPS51 VPS51 subunit of GARP complex gene DOID:3070 high grade glioma ISO RGD:1351540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11970602 VPS51 VPS51 subunit of GARP complex gene DOID:630 genetic disease ISO RGD:1351540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11970616 NXN nucleoredoxin gene DOID:630 genetic disease ISO RGD:1321419 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11970616 NXN nucleoredoxin gene DOID:9007716 Autosomal Recessive Robinow Syndrome 2 ISO RGD:1321419 D RGD:7240710 20230420 OMIM 11970616 NXN nucleoredoxin gene DOID:9007716 Autosomal Recessive Robinow Syndrome 2 ISO RGD:1321419 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive 2 PMID:25741868|PMID:28492532|PMID:29276006 11970616 NXN nucleoredoxin gene DOID:9008443 Colorectal Neoplasms ISO RGD:1321419 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:24836286 11970628 CD79B CD79b molecule gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:730908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21173233 11970628 CD79B CD79b molecule gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:730908 D RGD:9068941 20220311 RGD DNA:mutation:multiple (human) PMID:28803429|REF_RGD_ID:151665120 11970628 CD79B CD79b molecule gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:730908 D RGD:9068941 20220317 RGD DNA:missense mutation:multiple, exon 5-6 (human) PMID:25347427|REF_RGD_ID:11075852 11970628 CD79B CD79b molecule gene DOID:0050745 diffuse large B-cell lymphoma severity ISO RGD:730908 D RGD:9068941 20220317 RGD DNA:missense mutation:multiple, exon 5 (human) PMID:31609782|REF_RGD_ID:151665203 11970628 CD79B CD79b molecule gene DOID:0050745 diffuse large B-cell lymphoma treatment ISO RGD:730908 D RGD:9068941 20220311 RGD PMID:25708834|REF_RGD_ID:151665133 11970628 CD79B CD79b molecule gene DOID:0050746 mantle cell lymphoma ISO RGD:730908 D RGD:9068941 20200609 RGD protein:decreased expression:blood, B cell (human) PMID:10329919|REF_RGD_ID:11531139 11970628 CD79B CD79b molecule gene DOID:0050746 mantle cell lymphoma treatment ISO RGD:730908 D RGD:9068941 20220317 RGD human cells in mouse model PMID:17374736|REF_RGD_ID:151665154 11970628 CD79B CD79b molecule gene DOID:0050750 splenic marginal zone lymphoma ISO RGD:730908 D RGD:9068941 20200609 RGD protein:decreased expression:blood, B cell (human) PMID:10329919|REF_RGD_ID:11531139 11970628 CD79B CD79b molecule gene DOID:0050873 follicular lymphoma treatment ISO RGD:730908 D RGD:9068941 20220317 RGD human cells in mouse model PMID:17374736|REF_RGD_ID:151665154 11970628 CD79B CD79b molecule gene DOID:0060060 non-Hodgkin lymphoma treatment ISO RGD:730908 D RGD:9068941 20220311 RGD human cells in mouse model PMID:19633198|REF_RGD_ID:151665149 11970628 CD79B CD79b molecule gene DOID:0081138 agammaglobulinemia 6 ISO RGD:730908 D RGD:7240710 20180130 OMIM 11970628 CD79B CD79b molecule gene DOID:0081138 agammaglobulinemia 6 ISO RGD:730908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 6, autosomal recessive PMID:17576681|PMID:17675462|PMID:17709424|PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532|PMID:9536098 11970628 CD79B CD79b molecule gene DOID:1040 chronic lymphocytic leukemia ISO RGD:730908 D RGD:9068941 20220311 RGD protein:decreased expression:blood cells (human) PMID:10753858|REF_RGD_ID:151665152 11970628 CD79B CD79b molecule gene DOID:1040 chronic lymphocytic leukemia ISO RGD:730908 D RGD:9068941 20220311 RGD protein:decreased expression:peripheral blood cells (human) PMID:10516749|REF_RGD_ID:151665125 11970628 CD79B CD79b molecule gene DOID:1040 chronic lymphocytic leukemia ISO RGD:730908 D RGD:9068941 20220317 RGD mRNA, protein:splice variants, alternative forms:exon 3 (human) PMID:10090943|REF_RGD_ID:151665190 11970628 CD79B CD79b molecule gene DOID:1040 chronic lymphocytic leukemia ISO RGD:730908 D RGD:9068941 20220317 RGD protein:decreased expression:blood, B cell (human) PMID:10329919|REF_RGD_ID:11531139 11970628 CD79B CD79b molecule gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:730908 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 11970628 CD79B CD79b molecule gene DOID:2583 agammaglobulinemia ISO RGD:730908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11970628 CD79B CD79b molecule gene DOID:3234 central nervous system lymphoma treatment ISO RGD:730908 D RGD:9068941 20220317 RGD PMID:28619981|REF_RGD_ID:151665208 11970628 CD79B CD79b molecule gene DOID:409 liver disease ISO RGD:730908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11970628 CD79B CD79b molecule gene DOID:630 genetic disease ISO RGD:730908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11970628 CD79B CD79b molecule gene DOID:8584 Burkitt lymphoma treatment ISO RGD:730908 D RGD:9068941 20220317 RGD human cells in mouse model PMID:17374736|REF_RGD_ID:151665154 11970628 CD79B CD79b molecule gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:730908 D RGD:9068941 20200609 RGD protein:decreased expression:B lymphocyte, cell surface (human) PMID:9269755|REF_RGD_ID:11250403 11970628 CD79B CD79b molecule gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:730908 D RGD:9068941 20220317 RGD DNA:polymorphism:multiple (human) PMID:10552962|REF_RGD_ID:151665202 11970628 CD79B CD79b molecule gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:730908 D RGD:9068941 20220317 RGD mRNA, protein:splice variants, alternative forms:exon 3 (human) PMID:10090943|REF_RGD_ID:151665190 11970628 CD79B CD79b molecule gene DOID:9952 acute lymphoblastic leukemia ISO RGD:730908 D RGD:9068941 20200609 RGD protein:decreased expression:bone marrow, mononuclear cell (human) PMID:21487112|REF_RGD_ID:11250414 11970651 RAB19 RAB19, member RAS oncogene family gene DOID:0080690 RASopathy ISO RGD:1604143 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 11970651 RAB19 RAB19, member RAS oncogene family gene DOID:11193 syndactyly ISO RGD:1604143 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Non-syndromic syndactyly PMID:25741868 11970651 RAB19 RAB19, member RAS oncogene family gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11970651 RAB19 RAB19, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1604143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11970659 KAZALD1 Kazal type serine peptidase inhibitor domain 1 gene DOID:630 genetic disease ISO RGD:1321754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11970669 ZNF813 zinc finger protein 813 gene DOID:630 genetic disease ISO RGD:1603586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11970678 LOC100975517 uncharacterized LOC100975517 gene DOID:1059 intellectual disability ISO RGD:1601987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11970678 LOC100975517 uncharacterized LOC100975517 gene DOID:630 genetic disease ISO RGD:1601987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11970699 MBP myelin basic protein gene DOID:0050256 angiostrongyliasis disease_progression ISO RGD:10884 D RGD:9068941 20200609 RGD PMID:20399564|REF_RGD_ID:27226693 11970699 MBP myelin basic protein gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:736262 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11970699 MBP myelin basic protein gene DOID:0080695 Burn-McKeown syndrome ISO RGD:736262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 11970699 MBP myelin basic protein gene DOID:12858 Huntington's disease ISO RGD:3054 D RGD:9068941 20200609 RGD protein:decreased expression:brain: PMID:21906685|REF_RGD_ID:7349325 11970699 MBP myelin basic protein gene DOID:13088 periventricular leukomalacia ISO RGD:3054 D RGD:9068941 20200609 RGD protein:decreased expression:brain: PMID:23614640|REF_RGD_ID:7327203 11970699 MBP myelin basic protein gene DOID:1459 hypothyroidism ISO RGD:3054 D RGD:9068941 20200609 RGD PMID:11592121|REF_RGD_ID:27226698 11970699 MBP myelin basic protein gene DOID:224 transient cerebral ischemia ISO RGD:3054 D RGD:9068941 20200609 RGD mRNA:increased expression:oligodendrocyte: PMID:11460777|REF_RGD_ID:7349336 11970699 MBP myelin basic protein gene DOID:2377 multiple sclerosis ISO RGD:736262 D RGD:9068941 20200609 RGD PMID:1691612|REF_RGD_ID:1358488 11970699 MBP myelin basic protein gene DOID:3213 demyelinating disease ISO RGD:3054 D RGD:9068941 20200609 RGD DNA:insertion:intron (rat) PMID:10212300|REF_RGD_ID:1358763 11970699 MBP myelin basic protein gene DOID:3213 demyelinating disease ISO RGD:736262 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2580064 11970699 MBP myelin basic protein gene DOID:3328 temporal lobe epilepsy ISO RGD:3054 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus: PMID:23727401|REF_RGD_ID:7327195 11970699 MBP myelin basic protein gene DOID:5419 schizophrenia ISO RGD:3054 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex: PMID:22750584|REF_RGD_ID:7349324 11970699 MBP myelin basic protein gene DOID:630 genetic disease ISO RGD:736262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11970699 MBP myelin basic protein gene DOID:6420 pulmonary valve stenosis ISO RGD:736262 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 11970699 MBP myelin basic protein gene DOID:6713 cerebrovascular disease ISO RGD:736262 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15159442 11970699 MBP myelin basic protein gene DOID:8445 intestinal volvulus ISO RGD:736262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11970699 MBP myelin basic protein gene DOID:8869 neuromyelitis optica ISO RGD:736262 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18509235 11970699 MBP myelin basic protein gene DOID:9000998 Brain Injuries ISO RGD:3054 D RGD:9068941 20200609 RGD PMID:18583256|REF_RGD_ID:7349333 11970699 MBP myelin basic protein gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:736262 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 11970699 MBP myelin basic protein gene DOID:9001809 Urinary Retention ISO RGD:736262 D RGD:9068941 20200609 RGD associated with Meningitis;protein:increased expression:cerebrospinal fluid: PMID:16680560|REF_RGD_ID:7349338 11970699 MBP myelin basic protein gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:736262 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11501064|PMID:15159442|PMID:17884951|PMID:24070732 11970699 MBP myelin basic protein gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:736262 D RGD:9068941 20200609 RGD PMID:16285900|REF_RGD_ID:7349334 11970699 MBP myelin basic protein gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:736262 D RGD:9068941 20200618 RGD human sequence peptide in a rat model; associated with Herpesviridae infections PMID:12811845|REF_RGD_ID:30296670 11970699 MBP myelin basic protein gene DOID:9003420 Carbon Monoxide Poisoning ISO RGD:3054 D RGD:9068941 20200609 RGD protein:decreased expression:brain: PMID:23146304|REF_RGD_ID:7327205 11970699 MBP myelin basic protein gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:3054 D RGD:9068941 20200609 RGD protein:decreased expression:white matter: PMID:23715956|REF_RGD_ID:7327196 11970699 MBP myelin basic protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11970699 MBP myelin basic protein gene DOID:9005372 Inflammation ISO RGD:736262 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15159442 11970699 MBP myelin basic protein gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3054 D RGD:9068941 20200609 RGD PMID:23667870|REF_RGD_ID:7327197 11970699 MBP myelin basic protein gene DOID:9007553 neurotoxicity treatment ISO RGD:3054 D RGD:9068941 20230323 RGD PMID:33166664|REF_RGD_ID:213230154 11970699 MBP myelin basic protein gene DOID:9008419 Volvulus Of Midgut ISO RGD:736262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11970699 MBP myelin basic protein gene DOID:9588 encephalitis ISO RGD:3054 D RGD:9068941 20200609 RGD associated with maternal Periapical Abscess;protein:decreased expression:brain: PMID:23245577|REF_RGD_ID:7327204 11970699 MBP myelin basic protein gene DOID:9743 diabetic neuropathy ISO RGD:3054 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:decreased expression:sciatic nerve: PMID:23735240|REF_RGD_ID:7327194 11970721 HSPA1B heat shock protein family A (Hsp70) member 1B gene DOID:0050553 JMP syndrome ISO RGD:736398 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11970721 HSPA1B heat shock protein family A (Hsp70) member 1B gene DOID:0080205 CAKUT ISO RGD:736398 D RGD:9068941 20230427 RGD DNA: SNP: :g.1267A>G PMID:20692469|REF_RGD_ID:7242732 11970721 HSPA1B heat shock protein family A (Hsp70) member 1B gene DOID:0080784 urinary tract infection ISO RGD:736398 D RGD:9068941 20230427 RGD DNA: SNP: :g.1267A>G PMID:20379347|REF_RGD_ID:7242733 11970721 HSPA1B heat shock protein family A (Hsp70) member 1B gene DOID:0081267 graft-versus-host disease severity ISO RGD:2840 D RGD:9068941 20230427 RGD mRNA:increased expression:skin PMID:18580475|REF_RGD_ID:8662845 11970721 HSPA1B heat shock protein family A (Hsp70) member 1B gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:736398 D RGD:9068941 20230427 RGD DNA:polymorphism: : PMID:12967056|REF_RGD_ID:10402401 11970721 HSPA1B heat shock protein family A (Hsp70) member 1B gene DOID:1168 familial hyperlipidemia ISO RGD:736398 D RGD:9068941 20230427 RGD associated with advanced age and Diabetes Mellitus, Type 2 (MeSH:D003924); DNA:SNP:CDS:B allele at position 1267 (=P2 allele) PMID:15992611|REF_RGD_ID:1626649 11970721 HSPA1B heat shock protein family A (Hsp70) member 1B gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:736398 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:12868502 11970721 HSPA1B heat shock protein family A (Hsp70) member 1B gene DOID:14115 toxic shock syndrome susceptibility ISO RGD:736398 D RGD:9068941 20230427 RGD associated wit community-acquired pneumonia;DNA:SNP: :1267A>G (human) PMID:12771604|REF_RGD_ID:5147601 11970721 HSPA1B heat shock protein family A (Hsp70) member 1B gene DOID:1936 atherosclerosis ISO RGD:736398 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:16513158 11970721 HSPA1B heat shock protein family A (Hsp70) member 1B gene DOID:2316 brain ischemia ISO RGD:736398 D RGD:9068941 20230427 RGD associated with advanced age and Diabetes Mellitus, Type 2 (MeSH:D003924); DNA:SNP:CDS:B allele at position 1267 (=P2 allele) PMID:15992611|REF_RGD_ID:1626649 11970721 HSPA1B heat shock protein family A (Hsp70) member 1B gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736398 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease 11970721 HSPA1B heat shock protein family A (Hsp70) member 1B gene DOID:3587 pancreatic ductal carcinoma ISO RGD:736398 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:17234771 11970721 HSPA1B heat shock protein family A (Hsp70) member 1B gene DOID:37 skin disease ISO RGD:736398 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11970721 HSPA1B heat shock protein family A (Hsp70) member 1B gene DOID:5419 schizophrenia ISO RGD:736398 D RGD:9068941 20230427 RGD DNA:silent mutation, haplotype:cds: (rs539689) (human) PMID:18299791|REF_RGD_ID:5147596 11970721 HSPA1B heat shock protein family A (Hsp70) member 1B gene DOID:630 genetic disease ISO RGD:736398 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11970721 HSPA1B heat shock protein family A (Hsp70) member 1B gene DOID:9002165 Diabetic Nephropathies ISO RGD:736398 D RGD:9068941 20230427 RGD PMID:18518860|REF_RGD_ID:7242747 11970721 HSPA1B heat shock protein family A (Hsp70) member 1B gene DOID:9002669 Hypoxia ISO RGD:12344815 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:18258771 11970721 HSPA1B heat shock protein family A (Hsp70) member 1B gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:736398 D RGD:9068941 20230427 RGD DNA:SNP, haplotype: :rs1061581 (human) PMID:18813331|REF_RGD_ID:8662841 11970721 HSPA1B heat shock protein family A (Hsp70) member 1B gene DOID:9003817 Sudden Hearing Loss ISO RGD:736398 D RGD:9068941 20230427 RGD DNA:SNP, haplotype: :rs2763979 (human) PMID:22922572|REF_RGD_ID:8662465 11970721 HSPA1B heat shock protein family A (Hsp70) member 1B gene DOID:9004009 Reperfusion Injury ISO RGD:2840 D RGD:9068941 20230427 RGD PMID:10550516|REF_RGD_ID:7242749 11970721 HSPA1B heat shock protein family A (Hsp70) member 1B gene DOID:9004009 Reperfusion Injury ISO RGD:736398 D RGD:9068941 20230427 RGD PMID:10965299|REF_RGD_ID:7242748 11970721 HSPA1B heat shock protein family A (Hsp70) member 1B gene DOID:9007964 Arsenic Poisoning ISO RGD:736398 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11970721 HSPA1B heat shock protein family A (Hsp70) member 1B gene DOID:9008212 Diabetic Foot severity ISO RGD:736398 D RGD:9068941 20230427 RGD DNA:polymorphism: :1538G>A (human) PMID:19731315|REF_RGD_ID:8662463 11970721 HSPA1B heat shock protein family A (Hsp70) member 1B gene DOID:9008939 Breast Neoplasms ISO RGD:736398 D RGD:9068941 20230427 CTD CTD Direct Evidence: therapeutic PMID:15665820 11970721 HSPA1B heat shock protein family A (Hsp70) member 1B gene DOID:9352 type 2 diabetes mellitus ISO RGD:736398 D RGD:9068941 20230427 RGD DNA:SNP:CDS:homozygous P2/P2 allele at position 1267 (p=0.001 for all diabetic patients, p=0.0012 for non-obese diabetic patients) PMID:15223990|REF_RGD_ID:1626646 11970721 HSPA1B heat shock protein family A (Hsp70) member 1B gene DOID:9669 senile cataract susceptibility ISO RGD:736398 D RGD:9068941 20230427 RGD DNA:SNP: :1267A>G (human) PMID:23666708|REF_RGD_ID:8662462 11970721 HSPA1B heat shock protein family A (Hsp70) member 1B gene DOID:9970 obesity ISO RGD:736398 D RGD:9068941 20230427 RGD DNA:SNP:CDS:homozygous P2/P2 allele at position 1267 (p<0.000001) PMID:11319647|REF_RGD_ID:1626642 11970726 HCLS1 hematopoietic cell-specific Lyn substrate 1 gene DOID:630 genetic disease ISO RGD:1312380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11970726 HCLS1 hematopoietic cell-specific Lyn substrate 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1312380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 11970726 HCLS1 hematopoietic cell-specific Lyn substrate 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1312380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 11970726 HCLS1 hematopoietic cell-specific Lyn substrate 1 gene DOID:9270 alkaptonuria ISO RGD:1312380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11970744 TAOK3 TAO kinase 3 gene DOID:10283 prostate cancer ISO RGD:1605388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11970744 TAOK3 TAO kinase 3 gene DOID:630 genetic disease ISO RGD:1605388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11970744 TAOK3 TAO kinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11970786 PPP5C protein phosphatase 5 catalytic subunit gene DOID:630 genetic disease ISO RGD:68614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11970786 PPP5C protein phosphatase 5 catalytic subunit gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:68615 D RGD:9068941 20200609 RGD PMID:20875921|REF_RGD_ID:8693745 11970803 CHRM4 cholinergic receptor muscarinic 4 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:68976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11970803 CHRM4 cholinergic receptor muscarinic 4 gene DOID:1059 intellectual disability ISO RGD:68976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11970803 CHRM4 cholinergic receptor muscarinic 4 gene DOID:6000 congestive heart failure ISO RGD:2344 D RGD:9068941 20200609 RGD associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum PMID:16497176|REF_RGD_ID:1642301 11970803 CHRM4 cholinergic receptor muscarinic 4 gene DOID:630 genetic disease ISO RGD:68976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11970803 CHRM4 cholinergic receptor muscarinic 4 gene DOID:9000495 Tremor ISO RGD:68976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9920179 11970803 CHRM4 cholinergic receptor muscarinic 4 gene DOID:9008086 Developmental Disabilities ISO RGD:68976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11970803 CHRM4 cholinergic receptor muscarinic 4 gene DOID:9008639 Catatonia ISO RGD:68976 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15273762 11970809 MIER1 MIER1 transcriptional regulator gene DOID:1059 intellectual disability ISO RGD:1605649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11970809 MIER1 MIER1 transcriptional regulator gene DOID:630 genetic disease ISO RGD:1605649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11970888 RUSC1 RUN and SH3 domain containing 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1349680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11970888 RUSC1 RUN and SH3 domain containing 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1349680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11970888 RUSC1 RUN and SH3 domain containing 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1349680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11970888 RUSC1 RUN and SH3 domain containing 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1349680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11970888 RUSC1 RUN and SH3 domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1349680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11970888 RUSC1 RUN and SH3 domain containing 1 gene DOID:5812 MHC class II deficiency ISO RGD:1349680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11970888 RUSC1 RUN and SH3 domain containing 1 gene DOID:630 genetic disease ISO RGD:1349680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11970888 RUSC1 RUN and SH3 domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11970921 ATP2B2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:736839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA 11970921 ATP2B2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:736839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 11970921 ATP2B2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy ISO RGD:736839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy PMID:15829536|PMID:22047666|PMID:25741868|PMID:27535533|PMID:28492532 11970921 ATP2B2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:736839 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:25741868 11970921 ATP2B2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:736839 D RGD:7240710 20180130 OMIM 11970921 ATP2B2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:736839 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12, modifier of PMID:15829536|PMID:22047666|PMID:25741868|PMID:27535533|PMID:28492532|PMID:29452611 11970921 ATP2B2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:630 genetic disease ISO RGD:736839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11970921 ATP2B2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:9001133 Autosomal Dominant Nonsyndromic Deafness 82 ISO RGD:736839 D RGD:7240710 20220406 OMIM 11970921 ATP2B2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:9001133 Autosomal Dominant Nonsyndromic Deafness 82 ISO RGD:736839 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ATP2B2-related Progressive hearing impairment | ClinVar Annotator: match by term: Deafness, autosomal dominant 82 PMID:25741868|PMID:28492532|PMID:30535804 11970921 ATP2B2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11970921 ATP2B2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:9004538 Hearing Loss ISO RGD:736839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 11970921 ATP2B2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:736839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 11970978 CCDC152 coiled-coil domain containing 152 gene DOID:630 genetic disease ISO RGD:2298815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11970978 CCDC152 coiled-coil domain containing 152 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2298815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11970998 SPSB3 splA/ryanodine receptor domain and SOCS box containing 3 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1603939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 11970998 SPSB3 splA/ryanodine receptor domain and SOCS box containing 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1603939 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11970998 SPSB3 splA/ryanodine receptor domain and SOCS box containing 3 gene DOID:1826 epilepsy ISO RGD:1603939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11970998 SPSB3 splA/ryanodine receptor domain and SOCS box containing 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11970998 SPSB3 splA/ryanodine receptor domain and SOCS box containing 3 gene DOID:630 genetic disease ISO RGD:1603939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11971011 TMEM209 transmembrane protein 209 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11971011 TMEM209 transmembrane protein 209 gene DOID:630 genetic disease ISO RGD:1605919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11971049 TMEM204 transmembrane protein 204 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1350691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 11971049 TMEM204 transmembrane protein 204 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1350691 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:25741868|PMID:26216056|PMID:28492532 11971049 TMEM204 transmembrane protein 204 gene DOID:1826 epilepsy ISO RGD:1350691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11971049 TMEM204 transmembrane protein 204 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1350691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11971049 TMEM204 transmembrane protein 204 gene DOID:630 genetic disease ISO RGD:1350691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11971056 LPAR4 lysophosphatidic acid receptor 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11971056 LPAR4 lysophosphatidic acid receptor 4 gene DOID:12849 autistic disorder ISO RGD:1350247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11971056 LPAR4 lysophosphatidic acid receptor 4 gene DOID:630 genetic disease ISO RGD:1350247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11971069 MTFR2 mitochondrial fission regulator 2 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1344625 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 11971069 MTFR2 mitochondrial fission regulator 2 gene DOID:0111955 immunodeficiency 27A ISO RGD:1344625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 11971069 MTFR2 mitochondrial fission regulator 2 gene DOID:630 genetic disease ISO RGD:1344625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11971091 MAPK9 mitogen-activated protein kinase 9 gene DOID:0060071 pre-malignant neoplasm ISO RGD:628847 D RGD:9068941 20200609 RGD associated with Liver Neoplasms, Experimental;protein:decreased expression:liver PMID:18081878|REF_RGD_ID:2304231 11971091 MAPK9 mitogen-activated protein kinase 9 gene DOID:0060071 pre-malignant neoplasm ISO RGD:736023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21317887 11971091 MAPK9 mitogen-activated protein kinase 9 gene DOID:10652 Alzheimer's disease ISO RGD:736023 D RGD:9068941 20200609 RGD protein:increased expression:brain,CA1 field of hippocampus: PMID:11208906|REF_RGD_ID:10412676 11971091 MAPK9 mitogen-activated protein kinase 9 gene DOID:12098 trigeminal neuralgia ISO RGD:736023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 11971091 MAPK9 mitogen-activated protein kinase 9 gene DOID:13619 extrahepatic cholestasis ISO RGD:736023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 11971091 MAPK9 mitogen-activated protein kinase 9 gene DOID:2237 hepatitis ISO RGD:736024 D RGD:9068941 20220811 RGD PMID:25173965|REF_RGD_ID:153305943 11971091 MAPK9 mitogen-activated protein kinase 9 gene DOID:2349 arteriosclerosis ISO RGD:736024 D RGD:9068941 20200609 RGD PMID:15567863|REF_RGD_ID:1582314 11971091 MAPK9 mitogen-activated protein kinase 9 gene DOID:326 ischemia ISO RGD:736023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19667931 11971091 MAPK9 mitogen-activated protein kinase 9 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:736023 D RGD:9068941 20200609 RGD PMID:22517435|REF_RGD_ID:14348976 11971091 MAPK9 mitogen-activated protein kinase 9 gene DOID:630 genetic disease ISO RGD:736023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11971091 MAPK9 mitogen-activated protein kinase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736023 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21779479 11971091 MAPK9 mitogen-activated protein kinase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736023 D RGD:9068941 20200609 RGD associated with Colorectal Neoplasms PMID:25205654|REF_RGD_ID:13217416 11971091 MAPK9 mitogen-activated protein kinase 9 gene DOID:9002211 Hyperalgesia ISO RGD:736023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 11971091 MAPK9 mitogen-activated protein kinase 9 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736023 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32512071 11971091 MAPK9 mitogen-activated protein kinase 9 gene DOID:9004009 Reperfusion Injury ISO RGD:736023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19667931|PMID:20302854 11971091 MAPK9 mitogen-activated protein kinase 9 gene DOID:9006205 Animal Disease Models ISO RGD:736023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 11971091 MAPK9 mitogen-activated protein kinase 9 gene DOID:9256 colorectal cancer treatment ISO RGD:736023 D RGD:9068941 20200609 RGD PMID:25205654|REF_RGD_ID:13217416 11971091 MAPK9 mitogen-activated protein kinase 9 gene DOID:9352 type 2 diabetes mellitus ISO RGD:628847 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:pancreatic islet: PMID:21911753|REF_RGD_ID:13506785 11971091 MAPK9 mitogen-activated protein kinase 9 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736023 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:pancreatic islet: PMID:21911753|REF_RGD_ID:13506785 11971121 FXYD5 FXYD domain containing ion transport regulator 5 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1605677 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11971121 FXYD5 FXYD domain containing ion transport regulator 5 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1605677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11971121 FXYD5 FXYD domain containing ion transport regulator 5 gene DOID:543 dystonia ISO RGD:1605677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11971121 FXYD5 FXYD domain containing ion transport regulator 5 gene DOID:630 genetic disease ISO RGD:1605677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11971121 FXYD5 FXYD domain containing ion transport regulator 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11971144 PLBD2 phospholipase B domain containing 2 gene DOID:630 genetic disease ISO RGD:1606689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11971160 TRUB1 TruB pseudouridine synthase family member 1 gene DOID:630 genetic disease ISO RGD:1318307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11971197 IL1A interleukin 1 alpha gene DOID:0050152 aspiration pneumonia ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:Bronchoalveolar Lavage Fluid PMID:18042282|REF_RGD_ID:4142854 11971197 IL1A interleukin 1 alpha gene DOID:0050697 chorioamnionitis ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21493953 11971197 IL1A interleukin 1 alpha gene DOID:0050700 cardiomyopathy ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 11971197 IL1A interleukin 1 alpha gene DOID:0060496 respiratory allergy ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:12663678|REF_RGD_ID:4143222 11971197 IL1A interleukin 1 alpha gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 11971197 IL1A interleukin 1 alpha gene DOID:0080642 Middle East respiratory syndrome onset ISO RGD:10789 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 11971197 IL1A interleukin 1 alpha gene DOID:0080745 polymyositis ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 11971197 IL1A interleukin 1 alpha gene DOID:0080784 urinary tract infection ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:21690238|REF_RGD_ID:6907113 11971197 IL1A interleukin 1 alpha gene DOID:0080784 urinary tract infection ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:19171043|REF_RGD_ID:2311084 11971197 IL1A interleukin 1 alpha gene DOID:0081120 Graves ophthalmopathy ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:8444271|REF_RGD_ID:7794734 11971197 IL1A interleukin 1 alpha gene DOID:0081267 graft-versus-host disease ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-889T>C (rs1800587) (human) PMID:23645090|REF_RGD_ID:11049180 11971197 IL1A interleukin 1 alpha gene DOID:1002 endometritis ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:25330821|REF_RGD_ID:11059518 11971197 IL1A interleukin 1 alpha gene DOID:10126 keratoconus ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs2071376 (human) PMID:19043479|REF_RGD_ID:7794709 11971197 IL1A interleukin 1 alpha gene DOID:10223 dermatomyositis ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19035492 11971197 IL1A interleukin 1 alpha gene DOID:10327 anthracosis ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20005085 11971197 IL1A interleukin 1 alpha gene DOID:10459 common cold ISO RGD:735707 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucus PMID:10358201|REF_RGD_ID:4143183 11971197 IL1A interleukin 1 alpha gene DOID:10652 Alzheimer's disease ISO RGD:735707 D RGD:9068941 20200609 RGD protein:increased expression:microglial cell, cortical layer: PMID:9775393|REF_RGD_ID:10046059 11971197 IL1A interleukin 1 alpha gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP:5'UTR:rs1800587(human) PMID:11402127|REF_RGD_ID:10045947 11971197 IL1A interleukin 1 alpha gene DOID:10652 Alzheimer's disease no_association ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP:5'UTR:rs1800587(human) PMID:19158434|REF_RGD_ID:10045945 11971197 IL1A interleukin 1 alpha gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:10716257|REF_RGD_ID:1358667 11971197 IL1A interleukin 1 alpha gene DOID:10754 otitis media ISO RGD:2890 D RGD:9068941 20200609 RGD associated with Haemophilus Infections;mRNA, protein:increased expression:middle ear PMID:18524391|REF_RGD_ID:4891398 11971197 IL1A interleukin 1 alpha gene DOID:10914 amnestic disorder ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8003924 11971197 IL1A interleukin 1 alpha gene DOID:10964 cholesteatoma of middle ear ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:12768791|PMID:7503375|REF_RGD_ID:11059515|REF_RGD_ID:7794712 11971197 IL1A interleukin 1 alpha gene DOID:11030 corneal edema ISO RGD:735707 D RGD:9068941 20200609 RGD mRNA:increased expression:cornea PMID:7657553|REF_RGD_ID:7794733 11971197 IL1A interleukin 1 alpha gene DOID:11476 osteoporosis ISO RGD:735707 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid PMID:10555884|REF_RGD_ID:6907107 11971197 IL1A interleukin 1 alpha gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:10789 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:8790403|REF_RGD_ID:10045948 11971197 IL1A interleukin 1 alpha gene DOID:12241 beta thalassemia ISO RGD:735707 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood, mononuclear cell PMID:21576933|REF_RGD_ID:11051969 11971197 IL1A interleukin 1 alpha gene DOID:12306 vitiligo ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28836394 11971197 IL1A interleukin 1 alpha gene DOID:12306 vitiligo ISO RGD:735707 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:16911396|REF_RGD_ID:7794736 11971197 IL1A interleukin 1 alpha gene DOID:12337 varicocele ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:16616101|REF_RGD_ID:2311094 11971197 IL1A interleukin 1 alpha gene DOID:12554 hemolytic-uremic syndrome ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15384034 11971197 IL1A interleukin 1 alpha gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 11971197 IL1A interleukin 1 alpha gene DOID:12934 Kearns-Sayre syndrome ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 11971197 IL1A interleukin 1 alpha gene DOID:13141 uveitis ISO RGD:2890 D RGD:9068941 20200609 RGD PMID:8125721|REF_RGD_ID:7401166 11971197 IL1A interleukin 1 alpha gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:8699818|REF_RGD_ID:7794730 11971197 IL1A interleukin 1 alpha gene DOID:13250 diarrhea ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9278552 11971197 IL1A interleukin 1 alpha gene DOID:13580 cholestasis ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:19535096|REF_RGD_ID:2311076 11971197 IL1A interleukin 1 alpha gene DOID:14499 Fabry disease ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-889C>T (human) PMID:17353161|REF_RGD_ID:6907117 11971197 IL1A interleukin 1 alpha gene DOID:1485 cystic fibrosis severity ISO RGD:735707 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:8333775|REF_RGD_ID:4142849 11971197 IL1A interleukin 1 alpha gene DOID:1790 malignant mesothelioma ISO RGD:735707 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 11971197 IL1A interleukin 1 alpha gene DOID:1793 pancreatic cancer ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:7787209|REF_RGD_ID:2311069 11971197 IL1A interleukin 1 alpha gene DOID:2316 brain ischemia ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 11971197 IL1A interleukin 1 alpha gene DOID:2841 asthma ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:18763028|REF_RGD_ID:4142802 11971197 IL1A interleukin 1 alpha gene DOID:2921 glomerulonephritis ISO RGD:10789 D RGD:9068941 20200609 RGD associated with Malaria PMID:10469263|REF_RGD_ID:6907108 11971197 IL1A interleukin 1 alpha gene DOID:2945 severe acute respiratory syndrome ISO RGD:10789 D RGD:9068941 20200609 RGD mRNA:altered expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 11971197 IL1A interleukin 1 alpha gene DOID:2957 pulmonary tuberculosis ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:9176116|REF_RGD_ID:4142835 11971197 IL1A interleukin 1 alpha gene DOID:2986 IgA glomerulonephritis no_association ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP:promoter PMID:21049406|REF_RGD_ID:6907116 11971197 IL1A interleukin 1 alpha gene DOID:3021 acute kidney failure ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:21716595|REF_RGD_ID:6907069 11971197 IL1A interleukin 1 alpha gene DOID:3042 allergic contact dermatitis ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23178550 11971197 IL1A interleukin 1 alpha gene DOID:3082 interstitial lung disease ISO RGD:2890 D RGD:9068941 20200609 RGD associated with Immune Complex Diseases PMID:1826836|REF_RGD_ID:7794767 11971197 IL1A interleukin 1 alpha gene DOID:3082 interstitial lung disease susceptibility ISO RGD:735707 D RGD:9068941 20200609 RGD associated with sclerosis: DNA:SNPs:5' UTR, exon, intron: PMID:12528118|REF_RGD_ID:4142806 11971197 IL1A interleukin 1 alpha gene DOID:310 MERRF Syndrome ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 11971197 IL1A interleukin 1 alpha gene DOID:3687 MELAS syndrome ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 11971197 IL1A interleukin 1 alpha gene DOID:37 skin disease ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:8524866|REF_RGD_ID:7794729 11971197 IL1A interleukin 1 alpha gene DOID:37 skin disease ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338|PMID:22533443 11971197 IL1A interleukin 1 alpha gene DOID:3770 pulmonary fibrosis ISO RGD:2890 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:alveolar macrophage PMID:9100454|REF_RGD_ID:4142838 11971197 IL1A interleukin 1 alpha gene DOID:3770 pulmonary fibrosis ISO RGD:735707 D RGD:9068941 20200609 RGD idiopathic pulmonary fibrosis; DNA:polymorphism:promoter: PMID:17309781|REF_RGD_ID:4142803 11971197 IL1A interleukin 1 alpha gene DOID:3908 lung non-small cell carcinoma ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:19505916|REF_RGD_ID:4142793 11971197 IL1A interleukin 1 alpha gene DOID:4109 tick infestation ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:7835923|REF_RGD_ID:7794724 11971197 IL1A interleukin 1 alpha gene DOID:4195 hyperglycemia ISO RGD:735707 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:plasma PMID:18211631|REF_RGD_ID:2311062 11971197 IL1A interleukin 1 alpha gene DOID:4371 Schnitzler syndrome ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:1831824|REF_RGD_ID:7794711 11971197 IL1A interleukin 1 alpha gene DOID:4545 mesenchymal chondrosarcoma ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12817616 11971197 IL1A interleukin 1 alpha gene DOID:552 pneumonia ISO RGD:2890 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:8806881|REF_RGD_ID:7794765 11971197 IL1A interleukin 1 alpha gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27738319 11971197 IL1A interleukin 1 alpha gene DOID:630 genetic disease ISO RGD:735707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11971197 IL1A interleukin 1 alpha gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-889C>T (human) PMID:8162643|REF_RGD_ID:7794716 11971197 IL1A interleukin 1 alpha gene DOID:699 mitochondrial myopathy ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 11971197 IL1A interleukin 1 alpha gene DOID:705 Leber hereditary optic neuropathy ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 11971197 IL1A interleukin 1 alpha gene DOID:7148 rheumatoid arthritis ISO RGD:735707 D RGD:9068941 20200609 RGD associated with lung disease, interstitial PMID:11192540|REF_RGD_ID:4142818 11971197 IL1A interleukin 1 alpha gene DOID:7148 rheumatoid arthritis severity ISO RGD:735707 D RGD:9068941 20200609 RGD protein:increased expression:plasma, synovial fluid PMID:8162643|REF_RGD_ID:7794716 11971197 IL1A interleukin 1 alpha gene DOID:783 end stage renal disease ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP, insertion/deletion:intron, 3' utr:rs1516792-3, rs16347-2 (human) PMID:12837270|REF_RGD_ID:6907105 11971197 IL1A interleukin 1 alpha gene DOID:783 end stage renal disease ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNPs, deletion, haplotypes:3' utr:multiple (human) PMID:12631337|REF_RGD_ID:6907106 11971197 IL1A interleukin 1 alpha gene DOID:783 end stage renal disease no_association ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP PMID:20551628|REF_RGD_ID:6907070 11971197 IL1A interleukin 1 alpha gene DOID:824 periodontitis ISO RGD:735707 D RGD:9068941 20200609 RGD mRNA:increased expression:gingiva PMID:22795294|REF_RGD_ID:6906881 11971197 IL1A interleukin 1 alpha gene DOID:8398 osteoarthritis ISO RGD:735707 D RGD:9068941 20200609 RGD protein:increased expression:chonodrocyte: PMID:9497936|REF_RGD_ID:10047053 11971197 IL1A interleukin 1 alpha gene DOID:841 extrinsic allergic alveolitis ISO RGD:10789 D RGD:9068941 20200609 RGD protein:increased expression:Bronchoalveolar Lavage Fluid PMID:10882225|REF_RGD_ID:4142832 11971197 IL1A interleukin 1 alpha gene DOID:850 lung disease ISO RGD:10789 D RGD:9068941 20200609 RGD lung injury; mRNA:increased expression:lung PMID:12377989|PMID:12745880|REF_RGD_ID:4142805|REF_RGD_ID:4142809 11971197 IL1A interleukin 1 alpha gene DOID:850 lung disease ISO RGD:735707 D RGD:9068941 20200609 RGD radiation pneumonitis; protein:increased expression:plasma PMID:11917281|REF_RGD_ID:4142811 11971197 IL1A interleukin 1 alpha gene DOID:869 cholesteatoma ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:1384343|REF_RGD_ID:7401205 11971197 IL1A interleukin 1 alpha gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-899C>T (human) PMID:21591983|REF_RGD_ID:11051966 11971197 IL1A interleukin 1 alpha gene DOID:8947 diabetic retinopathy ISO RGD:735707 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor PMID:18978347|REF_RGD_ID:2307061 11971197 IL1A interleukin 1 alpha gene DOID:9000046 Poisoning treatment ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:1868253|REF_RGD_ID:11051971 11971197 IL1A interleukin 1 alpha gene DOID:9000046 Poisoning treatment ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:2258610|REF_RGD_ID:11059514 11971197 IL1A interleukin 1 alpha gene DOID:9000111 Radiation Injuries ISO RGD:2890 D RGD:9068941 20200609 RGD PMID:7938676|REF_RGD_ID:7794763 11971197 IL1A interleukin 1 alpha gene DOID:9000540 HIV Wasting Syndrome ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 11971197 IL1A interleukin 1 alpha gene DOID:9000918 Disease Progression ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27738319 11971197 IL1A interleukin 1 alpha gene DOID:9000972 Fever ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15384034 11971197 IL1A interleukin 1 alpha gene DOID:9000998 Brain Injuries ISO RGD:2890 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex PMID:16024175|REF_RGD_ID:2311098 11971197 IL1A interleukin 1 alpha gene DOID:9000998 Brain Injuries ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 11971197 IL1A interleukin 1 alpha gene DOID:9001109 Anorexia ISO RGD:2890 D RGD:9068941 20200609 RGD associated with Sarcoma, Experimental;protein:increased expression:cerebrospinal fluid PMID:8748250|REF_RGD_ID:7794755 11971197 IL1A interleukin 1 alpha gene DOID:9001472 Nasal Polyps ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNPs:exon: PMID:17638785|REF_RGD_ID:4142855 11971197 IL1A interleukin 1 alpha gene DOID:9001472 Nasal Polyps susceptibility ISO RGD:735707 D RGD:9068941 20200609 RGD associated with asthma; DNA:polymorphism:exon: PMID:12752325|REF_RGD_ID:4142804 11971197 IL1A interleukin 1 alpha gene DOID:9001488 Human Influenza ISO RGD:10789 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11535264|REF_RGD_ID:4142860 11971197 IL1A interleukin 1 alpha gene DOID:9001600 Wounds and Injuries ISO RGD:2890 D RGD:9068941 20200609 RGD PMID:18638276|REF_RGD_ID:2311088 11971197 IL1A interleukin 1 alpha gene DOID:9001708 Hemorrhagic Shock ISO RGD:2890 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15580020|REF_RGD_ID:2311100 11971197 IL1A interleukin 1 alpha gene DOID:9001725 Retina Reperfusion Injury ISO RGD:2890 D RGD:9068941 20200609 RGD PMID:7890488|REF_RGD_ID:7401191 11971197 IL1A interleukin 1 alpha gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2890 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19595018|REF_RGD_ID:2314952 11971197 IL1A interleukin 1 alpha gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19283466|REF_RGD_ID:6907377 11971197 IL1A interleukin 1 alpha gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2890 D RGD:9068941 20200609 RGD PMID:9840148|REF_RGD_ID:11059517 11971197 IL1A interleukin 1 alpha gene DOID:9002211 Hyperalgesia ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12727271 11971197 IL1A interleukin 1 alpha gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:19074885|REF_RGD_ID:11051968 11971197 IL1A interleukin 1 alpha gene DOID:9002231 Fetal Growth Retardation ISO RGD:735707 D RGD:9068941 20200609 RGD mRNA:increased expression:placenta PMID:11005132|REF_RGD_ID:2311066 11971197 IL1A interleukin 1 alpha gene DOID:9002331 Knee Osteoarthritis ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:9497937|REF_RGD_ID:10046057 11971197 IL1A interleukin 1 alpha gene DOID:9002331 Knee Osteoarthritis ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:cartilage cell: PMID:24534736|REF_RGD_ID:10045944 11971197 IL1A interleukin 1 alpha gene DOID:9002331 Knee Osteoarthritis ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:9034998|REF_RGD_ID:10045946 11971197 IL1A interleukin 1 alpha gene DOID:9002457 Experimental Arthritis ISO RGD:2890 D RGD:9068941 20200609 RGD PMID:20379758|REF_RGD_ID:6907373 11971197 IL1A interleukin 1 alpha gene DOID:9002457 Experimental Arthritis ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19169271|REF_RGD_ID:8662976 11971197 IL1A interleukin 1 alpha gene DOID:9002805 Enterocolitis ISO RGD:2890 D RGD:9068941 20200609 RGD PMID:8144001|REF_RGD_ID:2311103 11971197 IL1A interleukin 1 alpha gene DOID:9003036 Oral Lichen Planus treatment ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:16476030|REF_RGD_ID:7794728 11971197 IL1A interleukin 1 alpha gene DOID:9003219 Invasive Pulmonary Aspergillosis ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype:promoter:-889C>T (human) PMID:18484169|REF_RGD_ID:4142867 11971197 IL1A interleukin 1 alpha gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:c.4845G>T (human) PMID:14533660|REF_RGD_ID:4142859 11971197 IL1A interleukin 1 alpha gene DOID:9003730 Chemical Burns ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 11971197 IL1A interleukin 1 alpha gene DOID:9003871 Venous Thrombosis ISO RGD:2890 D RGD:9068941 20200609 RGD PMID:17651586|REF_RGD_ID:2311092 11971197 IL1A interleukin 1 alpha gene DOID:9004009 Reperfusion Injury ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23875703 11971197 IL1A interleukin 1 alpha gene DOID:9004118 Experimental Melanoma treatment ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:8061895|REF_RGD_ID:7794735 11971197 IL1A interleukin 1 alpha gene DOID:9004441 Experimental Leukemia treatment ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:2117483|REF_RGD_ID:11051972 11971197 IL1A interleukin 1 alpha gene DOID:9004464 Skin Neoplasms ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8435107 11971197 IL1A interleukin 1 alpha gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:735707 D RGD:9068941 20200609 RGD associated with Carcinoma, Non-Small-Cell Lung PMID:7666093|REF_RGD_ID:11051963 11971197 IL1A interleukin 1 alpha gene DOID:9004593 Drug-Induced Immune Thrombocytopenia treatment ISO RGD:735707 D RGD:9068941 20200609 RGD associated with Carcinoma, Non-Small-Cell Lung PMID:7666093|REF_RGD_ID:11051963 11971197 IL1A interleukin 1 alpha gene DOID:9004593 Drug-Induced Immune Thrombocytopenia treatment ISO RGD:735707 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms PMID:8151314|REF_RGD_ID:11051964 11971197 IL1A interleukin 1 alpha gene DOID:9004649 Heat Stroke ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19295493|REF_RGD_ID:6907071 11971197 IL1A interleukin 1 alpha gene DOID:9004649 Heat Stroke ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 11971197 IL1A interleukin 1 alpha gene DOID:9005372 Inflammation ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21467745|PMID:22163019 11971197 IL1A interleukin 1 alpha gene DOID:9005372 Inflammation ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:2636224|REF_RGD_ID:7794766 11971197 IL1A interleukin 1 alpha gene DOID:9005372 Inflammation treatment ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:8761432|REF_RGD_ID:7794725 11971197 IL1A interleukin 1 alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:20555424|REF_RGD_ID:4142788 11971197 IL1A interleukin 1 alpha gene DOID:9005930 Endotoxemia ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:9636192|REF_RGD_ID:6907109 11971197 IL1A interleukin 1 alpha gene DOID:9005930 Endotoxemia ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22426124|REF_RGD_ID:7794786 11971197 IL1A interleukin 1 alpha gene DOID:9006024 Hypotension ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15384034 11971197 IL1A interleukin 1 alpha gene DOID:9007102 Myocardial Ischemia ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11971197 IL1A interleukin 1 alpha gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8218930 11971197 IL1A interleukin 1 alpha gene DOID:9007621 Craniocerebral Trauma ISO RGD:735707 D RGD:9068941 20200609 RGD protein:increased expression:microglial cell PMID:7830934|REF_RGD_ID:10045949 11971197 IL1A interleukin 1 alpha gene DOID:9007730 Burns ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10431976 11971197 IL1A interleukin 1 alpha gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2890 D RGD:9068941 20200609 RGD PMID:7622355|REF_RGD_ID:7794764 11971197 IL1A interleukin 1 alpha gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:8576926|REF_RGD_ID:7794741 11971197 IL1A interleukin 1 alpha gene DOID:9007896 Sclerosis susceptibility ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNPs:5' UTR, exon, intron: PMID:12528118|REF_RGD_ID:4142806 11971197 IL1A interleukin 1 alpha gene DOID:9007964 Arsenic Poisoning ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11971197 IL1A interleukin 1 alpha gene DOID:9008217 Hemorrhage ISO RGD:2890 D RGD:9068941 20200609 RGD PMID:9326742|REF_RGD_ID:11059516 11971197 IL1A interleukin 1 alpha gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:735707 D RGD:9068941 20200609 RGD associated with carcinoma, non-small-cell lung: DNA:SNPs: :rs1800587,rs17561(human) PMID:20811626|REF_RGD_ID:5131286 11971197 IL1A interleukin 1 alpha gene DOID:9008763 Femoral Fractures ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:lung, serum PMID:21442011|REF_RGD_ID:5131471 11971197 IL1A interleukin 1 alpha gene DOID:9119 acute myeloid leukemia treatment ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:2460157|REF_RGD_ID:11051965 11971197 IL1A interleukin 1 alpha gene DOID:9383 iridocyclitis ISO RGD:735707 D RGD:9068941 20200609 RGD associated with Arthritis, Juvenile;DNA:SNP:promoter:-889C>T (human) PMID:8162643|REF_RGD_ID:7794716 11971197 IL1A interleukin 1 alpha gene DOID:9538 multiple myeloma ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:1777241|REF_RGD_ID:11059513 11971197 IL1A interleukin 1 alpha gene DOID:9538 multiple myeloma ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-511C>T (human) PMID:25469832|REF_RGD_ID:11049156 11971197 IL1A interleukin 1 alpha gene DOID:9538 multiple myeloma ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-889C>T (human) PMID:17926179|REF_RGD_ID:11051973 11971197 IL1A interleukin 1 alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:10789 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreatic islet, leukocyte PMID:8612552|REF_RGD_ID:2311067 11971197 IL1A interleukin 1 alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:17953531|PMID:2405400|REF_RGD_ID:2311064|REF_RGD_ID:2311075 11971197 IL1A interleukin 1 alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:735707 D RGD:9068941 20200609 RGD protein:increased expression:small intestine mucosa PMID:12941768|REF_RGD_ID:2311065 11971208 BLTP3B bridge-like lipid transfer protein family member 3B gene DOID:630 genetic disease ISO RGD:1604632 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11971208 BLTP3B bridge-like lipid transfer protein family member 3B gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1604632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11971242 EBAG9 estrogen receptor binding site associated antigen 9 gene DOID:10591 pre-eclampsia ISO RGD:1316400 D RGD:9068941 20200609 RGD protein:increased expression:decidua PMID:17845206|REF_RGD_ID:2289846 11971242 EBAG9 estrogen receptor binding site associated antigen 9 gene DOID:1612 breast cancer ISO RGD:1316400 D RGD:9068941 20200609 RGD DNA:amplification PMID:12160478|REF_RGD_ID:2289857 11971242 EBAG9 estrogen receptor binding site associated antigen 9 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1316400 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:15164121|REF_RGD_ID:2289854 11971242 EBAG9 estrogen receptor binding site associated antigen 9 gene DOID:2870 endometrial adenocarcinoma ISO RGD:1316400 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:16112719|REF_RGD_ID:2289850 11971242 EBAG9 estrogen receptor binding site associated antigen 9 gene DOID:289 endometriosis ISO RGD:1316400 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium PMID:16112719|REF_RGD_ID:2289850 11971242 EBAG9 estrogen receptor binding site associated antigen 9 gene DOID:3007 breast ductal carcinoma severity ISO RGD:1316400 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:12054692|REF_RGD_ID:2298489 11971242 EBAG9 estrogen receptor binding site associated antigen 9 gene DOID:3008 invasive ductal carcinoma ISO RGD:1316400 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:breast PMID:11742495|REF_RGD_ID:2289858 11971242 EBAG9 estrogen receptor binding site associated antigen 9 gene DOID:363 uterine cancer ISO RGD:1316400 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16842844|REF_RGD_ID:2289849 11971242 EBAG9 estrogen receptor binding site associated antigen 9 gene DOID:4362 cervical cancer disease_progression ISO RGD:1316400 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:16112176|REF_RGD_ID:2289851 11971242 EBAG9 estrogen receptor binding site associated antigen 9 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1316401 D RGD:9068941 20200609 RGD PMID:15867365|REF_RGD_ID:2289852 11971242 EBAG9 estrogen receptor binding site associated antigen 9 gene DOID:630 genetic disease ISO RGD:1316400 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11971242 EBAG9 estrogen receptor binding site associated antigen 9 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1316400 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:increased expression:breast PMID:12054692|PMID:17187007|REF_RGD_ID:2289847|REF_RGD_ID:2298489 11971242 EBAG9 estrogen receptor binding site associated antigen 9 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1316400 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasm;protein:increased expression:prostate gland, lymph node PMID:12845666|REF_RGD_ID:2289856 11971270 ZNF229 zinc finger protein 229 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1348111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 11971270 ZNF229 zinc finger protein 229 gene DOID:630 genetic disease ISO RGD:1348111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11971292 CYP2C9 cytochrome P450 family 2 subfamily C member 9 gene DOID:0050700 cardiomyopathy ISO RGD:1317784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16580879 11971292 CYP2C9 cytochrome P450 family 2 subfamily C member 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1317784 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11971292 CYP2C9 cytochrome P450 family 2 subfamily C member 9 gene DOID:0060500 drug allergy ISO RGD:1317784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 11971292 CYP2C9 cytochrome P450 family 2 subfamily C member 9 gene DOID:0080665 warfarin resistance ISO RGD:1317784 D RGD:7240710 20180130 OMIM 11971292 CYP2C9 cytochrome P450 family 2 subfamily C member 9 gene DOID:0080665 warfarin resistance ISO RGD:1317784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coumarin resistance PMID:10073515|PMID:10208645|PMID:11588061|PMID:12698304|PMID:15608560|PMID:15714076|PMID:15805193|PMID:16198655|PMID:16611750|PMID:17112811|PMID:17681167|PMID:19422321|PMID:20555338|PMID:25099164|PMID:25712887|PMID:25775139|PMID:28740425|PMID:30742399|PMID:30742400|PMID:30742401|PMID:32779747|PMID:8873220|PMID:9352571 11971292 CYP2C9 cytochrome P450 family 2 subfamily C member 9 gene DOID:0080666 warfarin sensitivity ISO RGD:1317784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Warfarin sensitivity PMID:10073515|PMID:10208645|PMID:11588061|PMID:12698304|PMID:15608560|PMID:15714076|PMID:15805193|PMID:16198655|PMID:16611750|PMID:17112811|PMID:17681167|PMID:19422321|PMID:20555338|PMID:25099164|PMID:25712887|PMID:25775139|PMID:28740425|PMID:30742399|PMID:30742400|PMID:30742401|PMID:32779747|PMID:8873220|PMID:9352571 11971292 CYP2C9 cytochrome P450 family 2 subfamily C member 9 gene DOID:1063 interstitial nephritis ISO RGD:1317784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19814645 11971292 CYP2C9 cytochrome P450 family 2 subfamily C member 9 gene DOID:10763 hypertension ISO RGD:1317784 D RGD:9068941 20200609 RGD PMID:19669737|REF_RGD_ID:6903909 11971292 CYP2C9 cytochrome P450 family 2 subfamily C member 9 gene DOID:10763 hypertension ISO RGD:1317784 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; DNA:polymorphism:cds:I359L (human) PMID:17305793|REF_RGD_ID:2307150 11971292 CYP2C9 cytochrome P450 family 2 subfamily C member 9 gene DOID:10763 hypertension ISO RGD:2469 D RGD:9068941 20230504 RGD PMID:18829737|REF_RGD_ID:6903915 11971292 CYP2C9 cytochrome P450 family 2 subfamily C member 9 gene DOID:11054 urinary bladder cancer ISO RGD:1317784 D RGD:9068941 20200609 RGD PMID:16985032|REF_RGD_ID:6903918 11971292 CYP2C9 cytochrome P450 family 2 subfamily C member 9 gene DOID:1596 depressive disorder ISO RGD:2469 D RGD:9068941 20230504 RGD PMID:20595028|REF_RGD_ID:4892242 11971292 CYP2C9 cytochrome P450 family 2 subfamily C member 9 gene DOID:3021 acute kidney failure ISO RGD:1317784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19814645 11971292 CYP2C9 cytochrome P450 family 2 subfamily C member 9 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1317784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 11971292 CYP2C9 cytochrome P450 family 2 subfamily C member 9 gene DOID:4195 hyperglycemia ISO RGD:1317784 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; Diabetic Nephropathies; DNA:polymorphisms:polymorphisms:cds:R144C, I359L (human) PMID:17597710|REF_RGD_ID:2307149 11971292 CYP2C9 cytochrome P450 family 2 subfamily C member 9 gene DOID:630 genetic disease ISO RGD:1317784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11971292 CYP2C9 cytochrome P450 family 2 subfamily C member 9 gene DOID:783 end stage renal disease ISO RGD:2469 D RGD:9068941 20230504 RGD PMID:11158222|PMID:8531418|REF_RGD_ID:6903939|REF_RGD_ID:6903940 11971292 CYP2C9 cytochrome P450 family 2 subfamily C member 9 gene DOID:863 nervous system disease ISO RGD:1317784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 11971292 CYP2C9 cytochrome P450 family 2 subfamily C member 9 gene DOID:9000185 Coumarin Sensitivity ISO RGD:1317784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COUMARIN SENSITIVITY PMID:10073515|PMID:10208645|PMID:11588061|PMID:12698304|PMID:15608560|PMID:15714076|PMID:15805193|PMID:16198655|PMID:16611750|PMID:17112811|PMID:17681167|PMID:19422321|PMID:20555338|PMID:25099164|PMID:25712887|PMID:25775139|PMID:28740425|PMID:30742399|PMID:30742400|PMID:30742401|PMID:32779747|PMID:8873220|PMID:9352571 11971292 CYP2C9 cytochrome P450 family 2 subfamily C member 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2469 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11971292 CYP2C9 cytochrome P450 family 2 subfamily C member 9 gene DOID:9002661 Diabetes Complications ISO RGD:1317784 D RGD:9068941 20200609 RGD PMID:15963101|REF_RGD_ID:2307154 11971292 CYP2C9 cytochrome P450 family 2 subfamily C member 9 gene DOID:9003936 Cardiomegaly ISO RGD:2469 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:18725507 11971292 CYP2C9 cytochrome P450 family 2 subfamily C member 9 gene DOID:9004306 Peptic Ulcer Hemorrhage ISO RGD:1317784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17681167 11971292 CYP2C9 cytochrome P450 family 2 subfamily C member 9 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1317784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11740344|PMID:19925388|PMID:23104259 11971292 CYP2C9 cytochrome P450 family 2 subfamily C member 9 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1317784 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:14971821|PMID:21741958|PMID:28762043|PMID:33814510 11971292 CYP2C9 cytochrome P450 family 2 subfamily C member 9 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2469 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11971292 CYP2C9 cytochrome P450 family 2 subfamily C member 9 gene DOID:9007502 Brain Neoplasms ISO RGD:1317784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16475710 11971292 CYP2C9 cytochrome P450 family 2 subfamily C member 9 gene DOID:9008217 Hemorrhage ISO RGD:1317784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18429757|PMID:18756910|PMID:20597268|PMID:25521356|PMID:27581200 11971292 CYP2C9 cytochrome P450 family 2 subfamily C member 9 gene DOID:9008550 Vitamin A Deficiency treatment ISO RGD:2469 D RGD:9068941 20230504 RGD PMID:11724755|REF_RGD_ID:13782260 11971292 CYP2C9 cytochrome P450 family 2 subfamily C member 9 gene DOID:9351 diabetes mellitus ISO RGD:1317784 D RGD:9068941 20200609 RGD DNA:polymorphism:multiple (human) PMID:16788382|REF_RGD_ID:2307151 11971292 CYP2C9 cytochrome P450 family 2 subfamily C member 9 gene DOID:9351 diabetes mellitus ISO RGD:1317784 D RGD:9068941 20200609 RGD associated with Thromboembolism; DNA:polymorphism:cds:R144C, I359L (human) PMID:16303885|REF_RGD_ID:2307153 11971292 CYP2C9 cytochrome P450 family 2 subfamily C member 9 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317784 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:I359L (human) PMID:16325295|REF_RGD_ID:2307152 11971292 CYP2C9 cytochrome P450 family 2 subfamily C member 9 gene DOID:9993 hypoglycemia ISO RGD:1317784 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphisms:cds:R144C, I359L (human) PMID:15963101|REF_RGD_ID:2307154 11971305 HOMER3 homer scaffold protein 3 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:731655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11971305 HOMER3 homer scaffold protein 3 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:731655 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 11971305 HOMER3 homer scaffold protein 3 gene DOID:10126 keratoconus ISO RGD:731655 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratoconus 11971305 HOMER3 homer scaffold protein 3 gene DOID:630 genetic disease ISO RGD:731655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11971305 HOMER3 homer scaffold protein 3 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:731655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11971305 HOMER3 homer scaffold protein 3 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:731655 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11971367 KDF1 keratinocyte differentiation factor 1 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1602654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 11971367 KDF1 keratinocyte differentiation factor 1 gene DOID:0111652 ectodermal dysplasia 12 ISO RGD:1602654 D RGD:7240710 20190315 OMIM 11971367 KDF1 keratinocyte differentiation factor 1 gene DOID:0111652 ectodermal dysplasia 12 ISO RGD:1602654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type PMID:27838789 11971367 KDF1 keratinocyte differentiation factor 1 gene DOID:13714 anodontia ISO RGD:1602654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Partial congenital absence of teeth 11971367 KDF1 keratinocyte differentiation factor 1 gene DOID:630 genetic disease ISO RGD:1602654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11971381 CHD6 chromodomain helicase DNA binding protein 6 gene DOID:11054 urinary bladder cancer ISO RGD:1321381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 11971381 CHD6 chromodomain helicase DNA binding protein 6 gene DOID:2234 focal epilepsy ISO RGD:1321381 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11971381 CHD6 chromodomain helicase DNA binding protein 6 gene DOID:2671 transitional cell carcinoma ISO RGD:1321381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 11971381 CHD6 chromodomain helicase DNA binding protein 6 gene DOID:630 genetic disease ISO RGD:1321381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11971381 CHD6 chromodomain helicase DNA binding protein 6 gene DOID:769 neuroblastoma ISO RGD:1321381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18577749 11971381 CHD6 chromodomain helicase DNA binding protein 6 gene DOID:7788 adult spinal cord ependymoma ISO RGD:1321381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adult spinal cord ependymoma 11971381 CHD6 chromodomain helicase DNA binding protein 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11971426 LUM lumican gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:1344357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12868502 11971426 LUM lumican gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:734193 D RGD:9068941 20220825 MouseDO OMIM:130000 11971426 LUM lumican gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1344357 D RGD:9068941 20200609 RGD PMID:17671699|REF_RGD_ID:2317682 11971426 LUM lumican gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1344357 D RGD:9068941 20200609 RGD DNA:SNP: :rs2268578 (human) PMID:19843670|REF_RGD_ID:2317230 11971426 LUM lumican gene DOID:3393 coronary artery disease ISO RGD:1344357 D RGD:9068941 20200609 RGD PMID:11890723|REF_RGD_ID:1582121 11971426 LUM lumican gene DOID:3407 carotid artery disease ISO RGD:1344357 D RGD:9068941 20200609 RGD PMID:15970583|REF_RGD_ID:1582117 11971426 LUM lumican gene DOID:5082 liver cirrhosis ISO RGD:1344357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 11971426 LUM lumican gene DOID:5199 ureteral obstruction ISO RGD:620984 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:12787392|REF_RGD_ID:2317694 11971426 LUM lumican gene DOID:630 genetic disease ISO RGD:1344357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11971426 LUM lumican gene DOID:799 varicose veins ISO RGD:1344357 D RGD:9068941 20200609 RGD PMID:15871312|REF_RGD_ID:1582120 11971426 LUM lumican gene DOID:9000039 Spinal Cord Injuries ISO RGD:620984 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:18482974|REF_RGD_ID:2317692 11971426 LUM lumican gene DOID:9000784 Fibrosis ISO RGD:620984 D RGD:9068941 20200609 RGD associated with Pancreatitis;mRNA, protein:increased expression, altered localization:pancreas PMID:12645630|REF_RGD_ID:724427 11971426 LUM lumican gene DOID:9000784 Fibrosis ISO RGD:620984 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:1385211|REF_RGD_ID:2317695 11971426 LUM lumican gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11971426 LUM lumican gene DOID:9001600 Wounds and Injuries ISO RGD:1344357 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24367547 11971426 LUM lumican gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620984 D RGD:9068941 20200609 RGD PMID:11348051|REF_RGD_ID:1582122 11971442 A1BG alpha-1-B glycoprotein gene DOID:5419 schizophrenia ISO RGD:69466 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25821032 11971442 A1BG alpha-1-B glycoprotein gene DOID:630 genetic disease ISO RGD:69466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11971442 A1BG alpha-1-B glycoprotein gene DOID:9005369 Hepatomegaly ISO RGD:69466 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 11971454 P2RY1 purinergic receptor P2Y1 gene DOID:0060903 thrombosis ISO RGD:736104 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17334511 11971454 P2RY1 purinergic receptor P2Y1 gene DOID:1875 impotence ISO RGD:3242 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19303093|REF_RGD_ID:2315809 11971454 P2RY1 purinergic receptor P2Y1 gene DOID:630 genetic disease ISO RGD:736104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11971454 P2RY1 purinergic receptor P2Y1 gene DOID:9000998 Brain Injuries ISO RGD:3242 D RGD:9068941 20200609 RGD protein:increased expression:brain, astrocyte PMID:19115395|REF_RGD_ID:2315811 11971460 ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603321 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11971460 ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 gene DOID:630 genetic disease ISO RGD:1603321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11971460 ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11971460 ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603321 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11971469 CXCR1 C-X-C motif chemokine receptor 1 gene DOID:0080600 COVID-19 ISO RGD:1353194 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11971469 CXCR1 C-X-C motif chemokine receptor 1 gene DOID:0080784 urinary tract infection ISO RGD:1353194 D RGD:9068941 20200609 RGD PMID:21151974|REF_RGD_ID:7207862 11971469 CXCR1 C-X-C motif chemokine receptor 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1353194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11971469 CXCR1 C-X-C motif chemokine receptor 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1353194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11971469 CXCR1 C-X-C motif chemokine receptor 1 gene DOID:11400 pyelonephritis ISO RGD:1353194 D RGD:9068941 20200609 RGD DNA:SNP: :2608G>C (human) PMID:22325052|REF_RGD_ID:7207860 11971469 CXCR1 C-X-C motif chemokine receptor 1 gene DOID:11400 pyelonephritis ISO RGD:1353194 D RGD:9068941 20200609 RGD DNA:mutations, polymorphisms: :multiple PMID:17786197|REF_RGD_ID:7207864 11971469 CXCR1 C-X-C motif chemokine receptor 1 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:2905 D RGD:9068941 20200609 RGD PMID:23336303|REF_RGD_ID:7207859 11971469 CXCR1 C-X-C motif chemokine receptor 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1353194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11971469 CXCR1 C-X-C motif chemokine receptor 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1353194 D RGD:7240710 20230505 OMIM 11971469 CXCR1 C-X-C motif chemokine receptor 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1353194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:25741868 11971469 CXCR1 C-X-C motif chemokine receptor 1 gene DOID:630 genetic disease ISO RGD:1353194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11971469 CXCR1 C-X-C motif chemokine receptor 1 gene DOID:783 end stage renal disease ISO RGD:1353194 D RGD:9068941 20200609 RGD PMID:20649681|REF_RGD_ID:7207863 11971469 CXCR1 C-X-C motif chemokine receptor 1 gene DOID:8577 ulcerative colitis ISO RGD:1353194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297633 11971469 CXCR1 C-X-C motif chemokine receptor 1 gene DOID:9004283 Transplant Rejection ISO RGD:1353194 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-2668G>A (rs2671222) (human) PMID:21452410|REF_RGD_ID:7257676 11971469 CXCR1 C-X-C motif chemokine receptor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11971475 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:0060581 Noonan syndrome 3 ISO RGD:1317750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 3 PMID:25741868|PMID:28492532 11971475 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:0080212 polycystic kidney disease 4 ISO RGD:1317750 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26467025|PMID:26519477|PMID:27466182|PMID:28492532|PMID:30348783|PMID:34008892 11971475 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1317750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 11971475 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:1317750 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 11971475 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:0080690 RASopathy ISO RGD:1317750 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: RASopathy PMID:17576681|PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25137548|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26519477|PMID:27466182|PMID:28074886|PMID:28166811|PMID:28301460|PMID:28492532|PMID:29907801|PMID:30348783|PMID:34008892|PMID:9536098 11971475 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:0080690 RASopathy ISO RGD:1317750 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:17576681|PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25137548|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26467025|PMID:26519477|PMID:27466182|PMID:28074886|PMID:28166811|PMID:28301460|PMID:28492532|PMID:29907801|PMID:30348783|PMID:34008892|PMID:9536098 11971475 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:0080690 RASopathy ISO RGD:1317750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:17576681|PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25137548|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26467025|PMID:26519477|PMID:27466182|PMID:27763634|PMID:28074886|PMID:28301460|PMID:28492532|PMID:29907801|PMID:30348783|PMID:33673806|PMID:34008892|PMID:9536098 11971475 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:0080691 Noonan syndrome-like disorder with loose anagen hair ISO RGD:1317750 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22670144|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26467025|PMID:26519477|PMID:27466182|PMID:28492532|PMID:30348783|PMID:34008892 11971475 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:0080692 Noonan syndrome-like disorder with loose anagen hair 1 ISO RGD:1317750 D RGD:7240710 20180130 OMIM 11971475 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:0080692 Noonan syndrome-like disorder with loose anagen hair 1 ISO RGD:1317750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 1 PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22670144|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25137548|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26467025|PMID:26519477|PMID:27466182|PMID:28074886|PMID:28301460|PMID:28492532|PMID:29907801|PMID:30348783|PMID:33673806|PMID:34008892 11971475 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:0110447 dilated cardiomyopathy 1DD ISO RGD:1317750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:28492532 11971475 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:1059 intellectual disability ISO RGD:1317750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11971475 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:3310 atopic dermatitis ISO RGD:1317750 D RGD:9068941 20230112 RGD associated with Noonan syndrome and related diseases; DNA:mutation:cds:c.4A>G (p.S2G)(human) PMID:20882035|REF_RGD_ID:11071178 11971475 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:3490 Noonan syndrome ISO RGD:1317750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26467025|PMID:26519477|PMID:27466182|PMID:28492532|PMID:30348783|PMID:33673806|PMID:34008892 11971475 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:421 hair disease ISO RGD:1317750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19684605 11971475 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:630 genetic disease ISO RGD:1317750 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25137548|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26467025|PMID:26519477|PMID:27466182|PMID:28492532|PMID:29907801|PMID:30348783|PMID:34008892 11971475 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:9003104 Intracranial Hemorrhages ISO RGD:1308146 D RGD:9068941 20230112 RGD mRNA:decreased expression:brain: PMID:34368865|REF_RGD_ID:155804268 11971475 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:9008386 Hydrops Fetalis ISO RGD:1317750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25137548|PMID:25741868|PMID:28492532|PMID:29907801|PMID:30348783 11971495 ACKR3 atypical chemokine receptor 3 gene DOID:1059 intellectual disability ISO RGD:1343702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11971495 ACKR3 atypical chemokine receptor 3 gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:1343702 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34624384 11971495 ACKR3 atypical chemokine receptor 3 gene DOID:2600 laryngeal carcinoma disease_progression ISO RGD:1343702 D RGD:9068941 20220506 RGD protein:increased expression:larynx (human) PMID:16494043|REF_RGD_ID:152025548 11971495 ACKR3 atypical chemokine receptor 3 gene DOID:305 carcinoma ISO RGD:1343702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22180778 11971495 ACKR3 atypical chemokine receptor 3 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1343702 D RGD:9068941 20230128 RGD mRNA:increased expression:kidney: PMID:29218250|REF_RGD_ID:155804290 11971495 ACKR3 atypical chemokine receptor 3 gene DOID:5426 primary ovarian insufficiency ISO RGD:1343702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11971495 ACKR3 atypical chemokine receptor 3 gene DOID:557 kidney disease ISO RGD:1343702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22880115 11971495 ACKR3 atypical chemokine receptor 3 gene DOID:630 genetic disease ISO RGD:1343702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11971495 ACKR3 atypical chemokine receptor 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1343702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 11971495 ACKR3 atypical chemokine receptor 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1343702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22180778 11971495 ACKR3 atypical chemokine receptor 3 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1343702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11971495 ACKR3 atypical chemokine receptor 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11971495 ACKR3 atypical chemokine receptor 3 gene DOID:9002297 OCULOMOTOR-ABDUCENS SYNKINESIS ISO RGD:1343702 D RGD:7240710 20210414 OMIM 11971495 ACKR3 atypical chemokine receptor 3 gene DOID:9002297 OCULOMOTOR-ABDUCENS SYNKINESIS ISO RGD:1343702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculomotor-abducens synkinesis PMID:31211835 11971495 ACKR3 atypical chemokine receptor 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1343702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22180778 11971504 PDP2 pyruvate dehydrogenase phosphatase catalytic subunit 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1603017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11971504 PDP2 pyruvate dehydrogenase phosphatase catalytic subunit 2 gene DOID:0110255 cataract 5 multiple types ISO RGD:1603017 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 11971504 PDP2 pyruvate dehydrogenase phosphatase catalytic subunit 2 gene DOID:10283 prostate cancer ISO RGD:1603017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11971504 PDP2 pyruvate dehydrogenase phosphatase catalytic subunit 2 gene DOID:630 genetic disease ISO RGD:1603017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11971504 PDP2 pyruvate dehydrogenase phosphatase catalytic subunit 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628812 D RGD:9068941 20210219 RGD PMID:12765946|REF_RGD_ID:1582364 11971529 MOB3B MOB kinase activator 3B gene DOID:630 genetic disease ISO RGD:1346999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11971543 KIRREL2 kirre like nephrin family adhesion molecule 2 gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1318234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome PMID:11317351|PMID:11854170|PMID:12039988|PMID:15338398|PMID:15906409|PMID:18436095|PMID:18503012|PMID:19406966|PMID:20172850|PMID:20507940|PMID:22584503|PMID:23949594|PMID:25741868|PMID:26467025|PMID:27594755|PMID:28117080|PMID:28476686|PMID:28492532|PMID:29127259|PMID:30963316|PMID:31216994|PMID:9660941|PMID:9915943 11971543 KIRREL2 kirre like nephrin family adhesion molecule 2 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1318234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11971543 KIRREL2 kirre like nephrin family adhesion molecule 2 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1318234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11971543 KIRREL2 kirre like nephrin family adhesion molecule 2 gene DOID:1184 nephrotic syndrome ISO RGD:1318234 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:11317351|PMID:11854170|PMID:12039988|PMID:18503012|PMID:20507940|PMID:22584503|PMID:25741868|PMID:28492532|PMID:29127259|PMID:30963316 11971543 KIRREL2 kirre like nephrin family adhesion molecule 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1318234 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:19406966|PMID:25741868|PMID:26467025|PMID:28492532 11971543 KIRREL2 kirre like nephrin family adhesion molecule 2 gene DOID:1826 epilepsy ISO RGD:1318234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 11971543 KIRREL2 kirre like nephrin family adhesion molecule 2 gene DOID:2590 familial nephrotic syndrome ISO RGD:1318234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital nephrotic syndrome PMID:18436095|PMID:19406966|PMID:25741868|PMID:26467025|PMID:28117080|PMID:28476686|PMID:28492532|PMID:31216994 11971543 KIRREL2 kirre like nephrin family adhesion molecule 2 gene DOID:630 genetic disease ISO RGD:1318234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11971564 NKX1-2 NK1 homeobox 2 gene DOID:630 genetic disease ISO RGD:1315537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11971570 PNMA8B PNMA family member 8B gene DOID:630 genetic disease ISO RGD:2290513 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11971624 INPP4A inositol polyphosphate-4-phosphatase type I A gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:68560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:15849264|PMID:21931702|PMID:25741868 11971624 INPP4A inositol polyphosphate-4-phosphatase type I A gene DOID:1059 intellectual disability ISO RGD:68560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11971624 INPP4A inositol polyphosphate-4-phosphatase type I A gene DOID:630 genetic disease ISO RGD:68560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11971693 HYDIN HYDIN axonemal central pair apparatus protein gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1347981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11971693 HYDIN HYDIN axonemal central pair apparatus protein gene DOID:0110617 primary ciliary dyskinesia 5 ISO RGD:1347981 D RGD:7240710 20180130 OMIM 11971693 HYDIN HYDIN axonemal central pair apparatus protein gene DOID:0110617 primary ciliary dyskinesia 5 ISO RGD:1347981 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 5 PMID:14985390|PMID:23022101|PMID:23849777|PMID:24033266|PMID:25741868|PMID:28512736 11971693 HYDIN HYDIN axonemal central pair apparatus protein gene DOID:10908 hydrocephalus ISO RGD:1347981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12719380|PMID:19029900 11971693 HYDIN HYDIN axonemal central pair apparatus protein gene DOID:10908 hydrocephalus ISO RGD:1558533 D RGD:9068941 20200609 RGD DNA:nonsense mutation:exon (mouse) PMID:12719380|REF_RGD_ID:634487 11971693 HYDIN HYDIN axonemal central pair apparatus protein gene DOID:10908 hydrocephalus ISO RGD:1558533 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 11971693 HYDIN HYDIN axonemal central pair apparatus protein gene DOID:630 genetic disease ISO RGD:1347981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11971693 HYDIN HYDIN axonemal central pair apparatus protein gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1347981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25741868 11971793 SYN1 synapsin I gene DOID:0060041 autism spectrum disorder ISO RGD:731422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11971793 SYN1 synapsin I gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11971793 SYN1 synapsin I gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:731422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 11971793 SYN1 synapsin I gene DOID:0080598 Kleefstra syndrome 2 ISO RGD:731422 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 2 PMID:25741868 11971793 SYN1 synapsin I gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:731422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11971793 SYN1 synapsin I gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:731422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11971793 SYN1 synapsin I gene DOID:0112029 non-syndromic X-linked intellectual disability 50 ISO RGD:731422 D RGD:7240710 20190717 OMIM 11971793 SYN1 synapsin I gene DOID:0112029 non-syndromic X-linked intellectual disability 50 ISO RGD:731422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 50 PMID:14985377|PMID:21441247|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28973667|PMID:31969655|PMID:36568968|PMID:9415477 11971793 SYN1 synapsin I gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:731422 D RGD:7240710 20180130 OMIM 11971793 SYN1 synapsin I gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:731422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BATHING EPILEPSY, X-LINKED | ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:15071120|PMID:16199547|PMID:17576681|PMID:21441247|PMID:23406870|PMID:23871722|PMID:24691301|PMID:25741868|PMID:25741869|PMID:26173895|PMID:26467025|PMID:27884173|PMID:28492532|PMID:28973667|PMID:30390306|PMID:31969655|PMID:32235935|PMID:34078716|PMID:34243774|PMID:36568968|PMID:9536098 11971793 SYN1 synapsin I gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:731422 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 11971793 SYN1 synapsin I gene DOID:1059 intellectual disability ISO RGD:731422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:36568968 11971793 SYN1 synapsin I gene DOID:12849 autistic disorder ISO RGD:731422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11971793 SYN1 synapsin I gene DOID:1470 major depressive disorder ISO RGD:731422 D RGD:9068941 20200609 RGD mRNA:decreased expression:dorsolateral prefrontal cortex PMID:22885997|REF_RGD_ID:6892958 11971793 SYN1 synapsin I gene DOID:1826 epilepsy ISO RGD:731422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:36568968 11971793 SYN1 synapsin I gene DOID:630 genetic disease ISO RGD:731422 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15071120|PMID:25741868|PMID:26467025|PMID:28492532 11971793 SYN1 synapsin I gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 11971793 SYN1 synapsin I gene DOID:9007692 Insulin Resistance ISO RGD:3797 D RGD:9068941 20200609 RGD PMID:29566703|REF_RGD_ID:13542091 11971808 SDF4 stromal cell derived factor 4 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:731601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11971808 SDF4 stromal cell derived factor 4 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:731601 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11971808 SDF4 stromal cell derived factor 4 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:731601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11971808 SDF4 stromal cell derived factor 4 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:731601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11971808 SDF4 stromal cell derived factor 4 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:731601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11971808 SDF4 stromal cell derived factor 4 gene DOID:0110994 Joubert syndrome 25 ISO RGD:731601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11971808 SDF4 stromal cell derived factor 4 gene DOID:0111934 immunodeficiency 38 ISO RGD:731601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11971808 SDF4 stromal cell derived factor 4 gene DOID:0111935 immunodeficiency 16 ISO RGD:731601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11971808 SDF4 stromal cell derived factor 4 gene DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 ISO RGD:731601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures PMID:28492532 11971808 SDF4 stromal cell derived factor 4 gene DOID:5419 schizophrenia ISO RGD:731601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 11971808 SDF4 stromal cell derived factor 4 gene DOID:630 genetic disease ISO RGD:731601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11971808 SDF4 stromal cell derived factor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11971808 SDF4 stromal cell derived factor 4 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:731601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11971808 SDF4 stromal cell derived factor 4 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:731601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11971819 ITPKB inositol-trisphosphate 3-kinase B gene DOID:1540 parathyroid carcinoma ISO RGD:1345915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11971819 ITPKB inositol-trisphosphate 3-kinase B gene DOID:2226 myeloproliferative neoplasm ISO RGD:1345915 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable PMID:35101336 11971819 ITPKB inositol-trisphosphate 3-kinase B gene DOID:630 genetic disease ISO RGD:1345915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11971819 ITPKB inositol-trisphosphate 3-kinase B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11971837 ODF1 outer dense fiber of sperm tails 1 gene DOID:0111590 Cohen syndrome ISO RGD:733828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 11971837 ODF1 outer dense fiber of sperm tails 1 gene DOID:630 genetic disease ISO RGD:733828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11971843 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1601772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11971843 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1601772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proximal muscle weakness in upper limbs 11971843 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:0080600 COVID-19 ISO RGD:1601772 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11971843 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:0111193 facioscapulohumeral muscular dystrophy 2 ISO RGD:1601772 D RGD:7240710 20180130 OMIM 11971843 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:0111193 facioscapulohumeral muscular dystrophy 2 ISO RGD:1601772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: FSHD2, DIGENIC | ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 | ClinVar Annotator: match by term: Weakness of facial musculature PMID:16199547|PMID:17576681|PMID:23143600|PMID:24075187|PMID:24755953|PMID:25214167|PMID:25256356|PMID:25370034|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26842768|PMID:27061275|PMID:28067909|PMID:28067911|PMID:28492532|PMID:29980640|PMID:30327220|PMID:30546343|PMID:31243061|PMID:31312724|PMID:31600781|PMID:32528171|PMID:34008892|PMID:8723126|PMID:9536098 11971843 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1601772 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11971843 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:11383 cryptorchidism ISO RGD:1601772 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cryptorchidism PMID:25741868|PMID:28067909 11971843 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1601772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 11971843 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:630 genetic disease ISO RGD:1601772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23143600|PMID:25256356|PMID:25370034|PMID:25741868|PMID:26467025|PMID:27061275|PMID:28492532 11971843 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9004042 Olfaction Disorders ISO RGD:1601772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anosmia PMID:28067909|PMID:28492532|PMID:31312724|PMID:8723126 11971843 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9004147 Anosmia ISO RGD:1601772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anosmia PMID:28067909|PMID:28492532|PMID:31312724|PMID:8723126 11971843 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9005523 Majeed Syndrome ISO RGD:1601772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Majeed syndrome PMID:15994876|PMID:23087183|PMID:28492532 11971843 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9005532 Muscle Weakness ISO RGD:1601772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:23143600|PMID:28492532 11971843 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9006386 Scapulohumeral Muscular Dystrophy ISO RGD:1601772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Scapulohumeral muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532|PMID:32528171 11971843 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9007423 Arhinia, Choanal Atresia, and Microphthalmia ISO RGD:1601772 D RGD:7240710 20190315 OMIM 11971843 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9007423 Arhinia, Choanal Atresia, and Microphthalmia ISO RGD:1601772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arhinia, choanal atresia, and microphthalmia PMID:11321738|PMID:16353241|PMID:23143600|PMID:23432817|PMID:23852095|PMID:25741868|PMID:26440771|PMID:26467025|PMID:26842768|PMID:28067909|PMID:28067911|PMID:28492532|PMID:31243061|PMID:31312724|PMID:5032329|PMID:672092|PMID:6802865|PMID:8446727|PMID:8723126 11971843 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9008342 Johnson Munson Syndrome ISO RGD:1601772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aphalangy of the hands and feet, hemivertebrae, and visceral malformations PMID:25741868 11971843 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9884 muscular dystrophy ISO RGD:1601772 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscular dystrophy 11971902 LOC100977922 olfactory receptor 10G6 gene DOID:5419 schizophrenia ISO RGD:1354122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11971907 NFASC neurofascin gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:733496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11971907 NFASC neurofascin gene DOID:12849 autistic disorder ISO RGD:733496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11971907 NFASC neurofascin gene DOID:1540 parathyroid carcinoma ISO RGD:733496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11971907 NFASC neurofascin gene DOID:630 genetic disease ISO RGD:733496 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11971907 NFASC neurofascin gene DOID:9003193 Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction ISO RGD:733496 D RGD:7240710 20190424 OMIM 11971907 NFASC neurofascin gene DOID:9003193 Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction ISO RGD:733496 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with central and peripheral motor dysfunction PMID:25741868|PMID:28940097|PMID:30124836|PMID:30850329|PMID:31501903 11971907 NFASC neurofascin gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:733496 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11971907 NFASC neurofascin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11971960 RIPPLY3 ripply transcriptional repressor 3 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1318761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11971960 RIPPLY3 ripply transcriptional repressor 3 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1318761 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11971960 RIPPLY3 ripply transcriptional repressor 3 gene DOID:1826 epilepsy ISO RGD:1318761 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11971960 RIPPLY3 ripply transcriptional repressor 3 gene DOID:630 genetic disease ISO RGD:1318761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11971967 RANBP10 RAN binding protein 10 gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:1343804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 11971967 RANBP10 RAN binding protein 10 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1343804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11971967 RANBP10 RAN binding protein 10 gene DOID:630 genetic disease ISO RGD:1343804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11971967 RANBP10 RAN binding protein 10 gene DOID:9000217 Stomach Neoplasms ISO RGD:1343804 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11971967 RANBP10 RAN binding protein 10 gene DOID:9000918 Disease Progression ISO RGD:1343804 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11971967 RANBP10 RAN binding protein 10 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1343804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11971990 ELP5 elongator acetyltransferase complex subunit 5 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1606812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11971990 ELP5 elongator acetyltransferase complex subunit 5 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1606812 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11971990 ELP5 elongator acetyltransferase complex subunit 5 gene DOID:1059 intellectual disability ISO RGD:1606812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11971990 ELP5 elongator acetyltransferase complex subunit 5 gene DOID:12177 common variable immunodeficiency ISO RGD:1606812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11971990 ELP5 elongator acetyltransferase complex subunit 5 gene DOID:2729 dyskeratosis congenita ISO RGD:1606812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11971990 ELP5 elongator acetyltransferase complex subunit 5 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1606812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11971990 ELP5 elongator acetyltransferase complex subunit 5 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1606812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 11971990 ELP5 elongator acetyltransferase complex subunit 5 gene DOID:630 genetic disease ISO RGD:1606812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11972004 LYSMD2 LysM domain containing 2 gene DOID:0080445 developmental and epileptic encephalopathy 13 ISO RGD:1605838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 11972004 LYSMD2 LysM domain containing 2 gene DOID:0080600 COVID-19 ISO RGD:1605838 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11972004 LYSMD2 LysM domain containing 2 gene DOID:2717 Bloom syndrome ISO RGD:1605838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11972004 LYSMD2 LysM domain containing 2 gene DOID:607 paraplegia ISO RGD:1605838 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 11972004 LYSMD2 LysM domain containing 2 gene DOID:630 genetic disease ISO RGD:1605838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11972004 LYSMD2 LysM domain containing 2 gene DOID:9256 colorectal cancer ISO RGD:1605838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11972015 PSAP prosaposin gene DOID:0050439 Usher syndrome ISO RGD:736284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:18429043|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 11972015 PSAP prosaposin gene DOID:0060892 late onset Parkinson's disease ISO RGD:736284 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Parkinson disease 24, autosomal dominant, susceptibility to | ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:17576681|PMID:25741868|PMID:28492532|PMID:30632081|PMID:31319425|PMID:32180488|PMID:32201884|PMID:33402667|PMID:9536098 11972015 PSAP prosaposin gene DOID:0060892 late onset Parkinson's disease susceptibility ISO RGD:736284 D RGD:7240710 20230517 OMIM 11972015 PSAP prosaposin gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:736284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:18429043|PMID:24033266|PMID:24416283|PMID:25741868|PMID:28492532 11972015 PSAP prosaposin gene DOID:0110826 Usher syndrome type 1 ISO RGD:736284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:18429043|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 11972015 PSAP prosaposin gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:736284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome PMID:18429043|PMID:24033266|PMID:25741868|PMID:28492532 11972015 PSAP prosaposin gene DOID:0110831 Usher syndrome type 1D ISO RGD:736284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1D PMID:18429043|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 11972015 PSAP prosaposin gene DOID:0110961 atypical Gaucher's disease due to saposin C deficiency ISO RGD:736284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency PMID:11309366|PMID:1371116|PMID:15856305|PMID:16199547|PMID:17576681|PMID:17616409|PMID:19267410|PMID:20484222|PMID:25741868|PMID:2615292|PMID:26822237|PMID:28457694|PMID:28492532|PMID:30632081|PMID:31319425|PMID:32180488|PMID:6256275|PMID:8460394|PMID:8554069|PMID:9536098 11972015 PSAP prosaposin gene DOID:0110961 atypical Gaucher's disease due to saposin C deficiency susceptibility ISO RGD:736284 D RGD:7240710 20230517 OMIM 11972015 PSAP prosaposin gene DOID:0111330 combined saposin deficiency ISO RGD:736284 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency PMID:10196694|PMID:10682309|PMID:11309366|PMID:1350885|PMID:1371116|PMID:15773042|PMID:16199547|PMID:17561962|PMID:17576681|PMID:17616409|PMID:17919309|PMID:18429043|PMID:18693274|PMID:19267410|PMID:19955343|PMID:2019586|PMID:20484222|PMID:2302219|PMID:2320574|PMID:24033266|PMID:24416283|PMID:24925315|PMID:25640679|PMID:25741868|PMID:25991456|PMID:26462614|PMID:26822237|PMID:26831127|PMID:28457694|PMID:28492532|PMID:30037697|PMID:30632081|PMID:31319425|PMID:32180488|PMID:33402667|PMID:8554069|PMID:9536098 11972015 PSAP prosaposin gene DOID:0111330 combined saposin deficiency susceptibility ISO RGD:736284 D RGD:7240710 20230517 OMIM 11972015 PSAP prosaposin gene DOID:10581 metachromatic leukodystrophy ISO RGD:736284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10196694|PMID:1371116|PMID:17576681|PMID:17616409|PMID:18429043|PMID:18693274|PMID:20484222|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:26462614|PMID:28492532|PMID:9536098 11972015 PSAP prosaposin gene DOID:10581 metachromatic leukodystrophy ISO RGD:736284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10196694|PMID:1371116|PMID:17576681|PMID:17616409|PMID:18429043|PMID:18693274|PMID:20484222|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:26462614|PMID:28492532|PMID:30632081|PMID:31319425|PMID:32180488|PMID:9536098 11972015 PSAP prosaposin gene DOID:10587 Krabbe disease ISO RGD:736284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell PMID:18429043|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 11972015 PSAP prosaposin gene DOID:630 genetic disease ISO RGD:736284 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1350885|PMID:17576681|PMID:2302219|PMID:2320574|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31439510|PMID:9536098 11972015 PSAP prosaposin gene DOID:9001061 Atypical Krabbe Disease due to Saposin A Deficiency ISO RGD:736284 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency | ClinVar Annotator: match by term: Saposin A Deficiency PMID:15773042|PMID:17576681|PMID:25741868|PMID:26822237|PMID:28492532|PMID:29995202|PMID:30632081|PMID:31319425|PMID:31439510|PMID:32180488|PMID:9536098 11972015 PSAP prosaposin gene DOID:9001061 Atypical Krabbe Disease due to Saposin A Deficiency susceptibility ISO RGD:736284 D RGD:7240710 20230517 OMIM 11972015 PSAP prosaposin gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:736284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:18429043|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 11972015 PSAP prosaposin gene DOID:9004538 Hearing Loss ISO RGD:736284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:18429043|PMID:24033266|PMID:25741868|PMID:28492532 11972015 PSAP prosaposin gene DOID:9004615 Metachromatic Leukodystrophy due to Saposin B Deficiency ISO RGD:736284 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy due to saposin B deficiency | ClinVar Annotator: match by term: Saposin B Deficiency PMID:11309366|PMID:1371116|PMID:15773042|PMID:16199547|PMID:17576681|PMID:17616409|PMID:19267410|PMID:19955343|PMID:2019586|PMID:20484222|PMID:25741868|PMID:26822237|PMID:28457694|PMID:28492532|PMID:30632081|PMID:31319425|PMID:32180488|PMID:8554069|PMID:9536098 11972015 PSAP prosaposin gene DOID:9004615 Metachromatic Leukodystrophy due to Saposin B Deficiency susceptibility ISO RGD:736284 D RGD:7240710 20230517 OMIM 11972037 PLD1 phospholipase D1 gene DOID:0080633 developmental cardiac valvular defect ISO RGD:70829 D RGD:7240710 20200311 OMIM 11972037 PLD1 phospholipase D1 gene DOID:0080633 developmental cardiac valvular defect ISO RGD:70829 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiac valvular defect, developmental PMID:16199547|PMID:25741868|PMID:27799408|PMID:28492532|PMID:33645542 11972037 PLD1 phospholipase D1 gene DOID:1062 Fanconi syndrome ISO RGD:70829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 11972037 PLD1 phospholipase D1 gene DOID:11832 visual epilepsy ISO RGD:3349 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:15330336|REF_RGD_ID:2299910 11972037 PLD1 phospholipase D1 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:70829 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:27713167|REF_RGD_ID:14392801 11972037 PLD1 phospholipase D1 gene DOID:3525 middle cerebral artery infarction ISO RGD:70829 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 11972037 PLD1 phospholipase D1 gene DOID:630 genetic disease ISO RGD:70829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27513193|PMID:27799408|PMID:28492532|PMID:33645542 11972037 PLD1 phospholipase D1 gene DOID:9003936 Cardiomegaly ISO RGD:70829 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15988127 11972072 LUC7L LUC7 like gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1316796 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11972072 LUC7L LUC7 like gene DOID:1826 epilepsy ISO RGD:1316796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 11972072 LUC7L LUC7 like gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1316796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11972072 LUC7L LUC7 like gene DOID:630 genetic disease ISO RGD:1316796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11972106 LARP1B La ribonucleoprotein 1B gene DOID:0110722 neuronal ceroid lipofuscinosis 7 ISO RGD:1605666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 PMID:19177532|PMID:28492532 11972106 LARP1B La ribonucleoprotein 1B gene DOID:10283 prostate cancer ISO RGD:1605666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11972106 LARP1B La ribonucleoprotein 1B gene DOID:630 genetic disease ISO RGD:1605666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11972154 TLX2 T cell leukemia homeobox 2 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1320082 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11972154 TLX2 T cell leukemia homeobox 2 gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1320083 D RGD:9068941 20220825 MouseDO OMIM:243180 | OMIM:601223 11972154 TLX2 T cell leukemia homeobox 2 gene DOID:543 dystonia ISO RGD:1320082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11972154 TLX2 T cell leukemia homeobox 2 gene DOID:630 genetic disease ISO RGD:1320082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11972154 TLX2 T cell leukemia homeobox 2 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1320082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11972160 TCEAL9 transcription elongation factor A like 9 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11972160 TCEAL9 transcription elongation factor A like 9 gene DOID:12849 autistic disorder ISO RGD:1352656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11972160 TCEAL9 transcription elongation factor A like 9 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1352656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:31690835 11972160 TCEAL9 transcription elongation factor A like 9 gene DOID:630 genetic disease ISO RGD:1352656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11972167 ANAPC16 anaphase promoting complex subunit 16 gene DOID:630 genetic disease ISO RGD:1345646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11972182 ERVFRD-1 endogenous retrovirus group FRD member 1, envelope gene DOID:630 genetic disease ISO RGD:1606632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11972188 KIF21A kinesin family member 21A gene DOID:0080143 congenital fibrosis of the extraocular muscles ISO RGD:1312975 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles | ClinVar Annotator: match by term: OPHTHALMOPLEGIA, CONGENITAL PMID:14595441|PMID:15621876|PMID:15621877|PMID:15827546|PMID:18332320|PMID:19551685|PMID:24656932|PMID:25741868|PMID:28492532 11972188 KIF21A kinesin family member 21A gene DOID:0080600 COVID-19 ISO RGD:1312975 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11972188 KIF21A kinesin family member 21A gene DOID:0081015 congenital fibrosis of the extraocular muscles 1 ISO RGD:1312975 D RGD:7240710 20180130 OMIM 11972188 KIF21A kinesin family member 21A gene DOID:0081015 congenital fibrosis of the extraocular muscles 1 ISO RGD:1312975 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS | ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3b PMID:10922204|PMID:14595441|PMID:15223798|PMID:15621876|PMID:15621877|PMID:15827546|PMID:18332320|PMID:19551685|PMID:24656932|PMID:25741868|PMID:28492532 11972188 KIF21A kinesin family member 21A gene DOID:12271 aniridia ISO RGD:1312975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia PMID:26893459 11972188 KIF21A kinesin family member 21A gene DOID:5409 lung small cell carcinoma ISO RGD:1312975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 11972188 KIF21A kinesin family member 21A gene DOID:630 genetic disease ISO RGD:1312975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11972242 LOC100989974 DDB1- and CUL4-associated factor 12-like protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11972242 LOC100989974 DDB1- and CUL4-associated factor 12-like protein 1 gene DOID:1056 oculocerebrorenal syndrome ISO RGD:1347831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lowe syndrome PMID:17142121 11972242 LOC100989974 DDB1- and CUL4-associated factor 12-like protein 1 gene DOID:12849 autistic disorder ISO RGD:1347831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11972242 LOC100989974 DDB1- and CUL4-associated factor 12-like protein 1 gene DOID:630 genetic disease ISO RGD:1347831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11972250 DUXA double homeobox A gene DOID:630 genetic disease ISO RGD:1604882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11972260 GPNMB glycoprotein nmb gene DOID:0060680 pigment dispersion syndrome ISO RGD:733525 D RGD:9068941 20220825 MouseDO OMIM:600510 11972260 GPNMB glycoprotein nmb gene DOID:0080600 COVID-19 ISO RGD:736300 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11972260 GPNMB glycoprotein nmb gene DOID:0080932 primary localized cutaneous amyloidosis 3 ISO RGD:736300 D RGD:7240710 20190315 OMIM 11972260 GPNMB glycoprotein nmb gene DOID:0080932 primary localized cutaneous amyloidosis 3 ISO RGD:736300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyloidosis, primary localized cutaneous, 3 PMID:19416385|PMID:25741868|PMID:25866143|PMID:28492532|PMID:29336782 11972260 GPNMB glycoprotein nmb gene DOID:3021 acute kidney failure ISO RGD:736300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23052191 11972260 GPNMB glycoprotein nmb gene DOID:3587 pancreatic ductal carcinoma ISO RGD:736300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24979617 11972260 GPNMB glycoprotein nmb gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11972260 GPNMB glycoprotein nmb gene DOID:630 genetic disease ISO RGD:736300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11972260 GPNMB glycoprotein nmb gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11972260 GPNMB glycoprotein nmb gene DOID:9004590 Acute Liver Failure ISO RGD:736300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15763343 11972260 GPNMB glycoprotein nmb gene DOID:9008443 Colorectal Neoplasms ISO RGD:736300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 11972260 GPNMB glycoprotein nmb gene DOID:9008939 Breast Neoplasms ISO RGD:736300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 11972275 ZBTB32 zinc finger and BTB domain containing 32 gene DOID:0080600 COVID-19 ISO RGD:1604369 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11972275 ZBTB32 zinc finger and BTB domain containing 32 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1604369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11972275 ZBTB32 zinc finger and BTB domain containing 32 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1604369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11972275 ZBTB32 zinc finger and BTB domain containing 32 gene DOID:543 dystonia ISO RGD:1604369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11972275 ZBTB32 zinc finger and BTB domain containing 32 gene DOID:630 genetic disease ISO RGD:1604369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11972299 MNT MAX network transcriptional repressor gene DOID:0060469 Miller-Dieker lissencephaly syndrome ISO RGD:1318598 D RGD:9068941 20220825 MouseDO OMIM:247200 11972299 MNT MAX network transcriptional repressor gene DOID:630 genetic disease ISO RGD:1318597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11972299 MNT MAX network transcriptional repressor gene DOID:674 cleft palate ISO RGD:1318597 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15028671 11972299 MNT MAX network transcriptional repressor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11972299 MNT MAX network transcriptional repressor gene DOID:9008500 Classical Lissencephalies and Subcortical Band Heterotopias ISO RGD:1318597 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15028671 11972299 MNT MAX network transcriptional repressor gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1318597 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15028671 11972368 PPDPF pancreatic progenitor cell differentiation and proliferation factor gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1321693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 11972368 PPDPF pancreatic progenitor cell differentiation and proliferation factor gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1321693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532 11972368 PPDPF pancreatic progenitor cell differentiation and proliferation factor gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1321693 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 11972368 PPDPF pancreatic progenitor cell differentiation and proliferation factor gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1321694 D RGD:9068941 20220825 MouseDO OMIM:613282 | OMIM:613387 11972368 PPDPF pancreatic progenitor cell differentiation and proliferation factor gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1321693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532|PMID:30866059 11972368 PPDPF pancreatic progenitor cell differentiation and proliferation factor gene DOID:0080600 COVID-19 ISO RGD:1321693 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD8+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 11972368 PPDPF pancreatic progenitor cell differentiation and proliferation factor gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1321693 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532 11972368 PPDPF pancreatic progenitor cell differentiation and proliferation factor gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1321693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 11972368 PPDPF pancreatic progenitor cell differentiation and proliferation factor gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1321693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 11972368 PPDPF pancreatic progenitor cell differentiation and proliferation factor gene DOID:630 genetic disease ISO RGD:1321693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11972368 PPDPF pancreatic progenitor cell differentiation and proliferation factor gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:1321693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 11972375 NEURL1 neuralized E3 ubiquitin protein ligase 1 gene DOID:0060224 atrial fibrillation ISO RGD:1315966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11972375 NEURL1 neuralized E3 ubiquitin protein ligase 1 gene DOID:11832 visual epilepsy ISO RGD:1307021 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:12213446|REF_RGD_ID:2302390 11972375 NEURL1 neuralized E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1315966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11972375 NEURL1 neuralized E3 ubiquitin protein ligase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1315966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 11972389 PRND prion like protein doppel gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1315338 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11972389 PRND prion like protein doppel gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1315338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11972389 PRND prion like protein doppel gene DOID:630 genetic disease ISO RGD:1315338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11972395 COL9A1 collagen type IX alpha 1 chain gene DOID:0050717 methylmalonic aciduria and homocystinuria type cblF ISO RGD:1298223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF PMID:19136951|PMID:21303734|PMID:28492532 11972395 COL9A1 collagen type IX alpha 1 chain gene DOID:0070301 multiple epiphyseal dysplasia 6 ISO RGD:1298223 D RGD:7240710 20180130 OMIM 11972395 COL9A1 collagen type IX alpha 1 chain gene DOID:0070301 multiple epiphyseal dysplasia 6 ISO RGD:1298223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 6 PMID:11565064|PMID:16199547|PMID:16909383|PMID:17576681|PMID:21421862|PMID:25741868|PMID:26467025|PMID:27959697|PMID:28492532|PMID:9536098 11972395 COL9A1 collagen type IX alpha 1 chain gene DOID:10003 sensorineural hearing loss ISO RGD:1298223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 11972395 COL9A1 collagen type IX alpha 1 chain gene DOID:11830 myopia ISO RGD:1298223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16909383 11972395 COL9A1 collagen type IX alpha 1 chain gene DOID:12721 multiple epiphyseal dysplasia ISO RGD:1298223 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant PMID:28492532 11972395 COL9A1 collagen type IX alpha 1 chain gene DOID:14323 Marfan syndrome ISO RGD:1298223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 11972395 COL9A1 collagen type IX alpha 1 chain gene DOID:2256 osteochondrodysplasia ISO RGD:1298223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11565064|PMID:16909383 11972395 COL9A1 collagen type IX alpha 1 chain gene DOID:2256 osteochondrodysplasia susceptibility ISO RGD:1298223 D RGD:9068941 20200609 RGD DNA:mutation PMID:11565064|REF_RGD_ID:1600949 11972395 COL9A1 collagen type IX alpha 1 chain gene DOID:5679 retinal disease ISO RGD:1298223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16909383 11972395 COL9A1 collagen type IX alpha 1 chain gene DOID:630 genetic disease ISO RGD:1298223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:16909383|PMID:21421862|PMID:25741868|PMID:28492532 11972395 COL9A1 collagen type IX alpha 1 chain gene DOID:65 connective tissue disease ISO RGD:1298223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:16909383|PMID:17576681|PMID:21421862|PMID:24036952|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386|PMID:9536098 11972395 COL9A1 collagen type IX alpha 1 chain gene DOID:8398 osteoarthritis ISO RGD:1319762 D RGD:9068941 20220825 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 11972395 COL9A1 collagen type IX alpha 1 chain gene DOID:9001539 Stickler Syndrome, Type IV ISO RGD:1298223 D RGD:7240710 20180130 OMIM 11972395 COL9A1 collagen type IX alpha 1 chain gene DOID:9001539 Stickler Syndrome, Type IV ISO RGD:1298223 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Stickler Syndrome, Recessive | ClinVar Annotator: match by term: Stickler syndrome, type 4 PMID:16199547|PMID:16909383|PMID:20301479|PMID:21421862|PMID:23967202|PMID:25741868|PMID:27959697|PMID:28492532 11972395 COL9A1 collagen type IX alpha 1 chain gene DOID:9004538 Hearing Loss ISO RGD:1298223 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24036952|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386 11972445 HAUS4 HAUS augmin like complex subunit 4 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1313228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11972445 HAUS4 HAUS augmin like complex subunit 4 gene DOID:630 genetic disease ISO RGD:1313228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11972445 HAUS4 HAUS augmin like complex subunit 4 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1313228 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11972445 HAUS4 HAUS augmin like complex subunit 4 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1313228 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11972477 APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:736126 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11972477 APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:736126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11972477 APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:736126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11972477 APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:736126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11972477 APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:0111621 Temtamy syndrome ISO RGD:736126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11972477 APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:1168 familial hyperlipidemia ISO RGD:2133 D RGD:9068941 20200609 RGD PMID:11116209|REF_RGD_ID:1626277 11972477 APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:219 colon cancer ISO RGD:2133 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:colon PMID:12020819|REF_RGD_ID:625559 11972477 APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:630 genetic disease ISO RGD:736126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11972477 APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736126 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11972477 APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:736126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11972477 APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:916 liver benign neoplasm ISO RGD:2133 D RGD:9068941 20200609 RGD PMID:9633945|REF_RGD_ID:10755510 11972477 APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:9970 obesity ISO RGD:2133 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:8781289|REF_RGD_ID:1626278 11972485 LOC100988022 sperm protein associated with the nucleus on the X chromosome N2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11972485 LOC100988022 sperm protein associated with the nucleus on the X chromosome N2 gene DOID:12849 autistic disorder ISO RGD:1606620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11972485 LOC100988022 sperm protein associated with the nucleus on the X chromosome N2 gene DOID:630 genetic disease ISO RGD:1606620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11972490 KRTCAP2 keratinocyte associated protein 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1318165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 11972490 KRTCAP2 keratinocyte associated protein 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1318165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11972490 KRTCAP2 keratinocyte associated protein 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1318165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11972490 KRTCAP2 keratinocyte associated protein 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1318165 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11972490 KRTCAP2 keratinocyte associated protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1318165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11972490 KRTCAP2 keratinocyte associated protein 2 gene DOID:5812 MHC class II deficiency ISO RGD:1318165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11972490 KRTCAP2 keratinocyte associated protein 2 gene DOID:630 genetic disease ISO RGD:1318165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11972490 KRTCAP2 keratinocyte associated protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11972499 LAMTOR4 late endosomal/lysosomal adaptor, MAPK and MTOR activator 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11972499 LAMTOR4 late endosomal/lysosomal adaptor, MAPK and MTOR activator 4 gene DOID:630 genetic disease ISO RGD:1604690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11972512 UBN1 ubinuclein 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1323115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:28492532 11972512 UBN1 ubinuclein 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1323115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 11972543 NLGN1 neuroligin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736454 D RGD:9068941 20220825 MouseDO 11972543 NLGN1 neuroligin 1 gene DOID:12849 autistic disorder ISO RGD:736453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, 20 PMID:28972980 11972543 NLGN1 neuroligin 1 gene DOID:1824 status epilepticus ISO RGD:621117 D RGD:9068941 20200609 RGD PMID:22539981|REF_RGD_ID:9831126 11972543 NLGN1 neuroligin 1 gene DOID:630 genetic disease ISO RGD:736453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11972571 LAMA1 laminin subunit alpha 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1316264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11972571 LAMA1 laminin subunit alpha 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1316264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 11972571 LAMA1 laminin subunit alpha 1 gene DOID:0081292 traumatic brain injury ISO RGD:1316264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25668593 11972571 LAMA1 laminin subunit alpha 1 gene DOID:1059 intellectual disability ISO RGD:1316264 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11972571 LAMA1 laminin subunit alpha 1 gene DOID:5419 schizophrenia ISO RGD:1316264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 11972571 LAMA1 laminin subunit alpha 1 gene DOID:630 genetic disease ISO RGD:1316264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:25105227|PMID:25741868|PMID:26350204|PMID:26932191|PMID:28492532|PMID:32590954|PMID:34423300 11972571 LAMA1 laminin subunit alpha 1 gene DOID:9008073 PORETTI-BOLTSHAUSER SYNDROME ISO RGD:1316264 D RGD:7240710 20180130 OMIM 11972571 LAMA1 laminin subunit alpha 1 gene DOID:9008073 PORETTI-BOLTSHAUSER SYNDROME ISO RGD:1316264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Poretti-Boltshauser syndrome PMID:16199547|PMID:17576681|PMID:24033266|PMID:25105227|PMID:25741868|PMID:26932191|PMID:28492532|PMID:33101984|PMID:33767182|PMID:34423300|PMID:9536098 11972571 LAMA1 laminin subunit alpha 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 11972644 PDE5A phosphodiesterase 5A gene DOID:10591 pre-eclampsia ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:18538317|REF_RGD_ID:2314465 11972644 PDE5A phosphodiesterase 5A gene DOID:12236 primary biliary cholangitis ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:17610866|REF_RGD_ID:2314466 11972644 PDE5A phosphodiesterase 5A gene DOID:1875 impotence ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:15667904|REF_RGD_ID:2314520 11972644 PDE5A phosphodiesterase 5A gene DOID:1875 impotence ISO RGD:620995 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:15578039|REF_RGD_ID:2314521 11972644 PDE5A phosphodiesterase 5A gene DOID:1875 impotence ISO RGD:620995 D RGD:9068941 20200609 RGD associated with Hypercholesterolemia PMID:15920460|REF_RGD_ID:2314519 11972644 PDE5A phosphodiesterase 5A gene DOID:2986 IgA glomerulonephritis ISO RGD:732674 D RGD:9068941 20200609 RGD DNA:SNP: :rs13124532(human) PMID:20563733|REF_RGD_ID:7248685 11972644 PDE5A phosphodiesterase 5A gene DOID:4762 vasculogenic impotence ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:17287493|REF_RGD_ID:2314469 11972644 PDE5A phosphodiesterase 5A gene DOID:5844 myocardial infarction ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:17339532|REF_RGD_ID:2314468 11972644 PDE5A phosphodiesterase 5A gene DOID:630 genetic disease ISO RGD:732674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11972644 PDE5A phosphodiesterase 5A gene DOID:6432 pulmonary hypertension ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:19881228|REF_RGD_ID:2314460 11972644 PDE5A phosphodiesterase 5A gene DOID:9000965 Neoplasm Metastasis ISO RGD:732674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12972520 11972644 PDE5A phosphodiesterase 5A gene DOID:9003936 Cardiomegaly treatment ISO RGD:737352 D RGD:9068941 20200609 RGD PMID:15665834|REF_RGD_ID:1581008 11972644 PDE5A phosphodiesterase 5A gene DOID:9004009 Reperfusion Injury ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:19474186|REF_RGD_ID:2314462 11972644 PDE5A phosphodiesterase 5A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11972644 PDE5A phosphodiesterase 5A gene DOID:9004538 Hearing Loss treatment ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:22270721|REF_RGD_ID:7775056 11972644 PDE5A phosphodiesterase 5A gene DOID:9004538 Hearing Loss treatment ISO RGD:737352 D RGD:9068941 20200609 RGD PMID:22270721|REF_RGD_ID:7775056 11972644 PDE5A phosphodiesterase 5A gene DOID:9005372 Inflammation ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:19129291|REF_RGD_ID:2314463 11972644 PDE5A phosphodiesterase 5A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:19542492|REF_RGD_ID:2314461 11972644 PDE5A phosphodiesterase 5A gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:17606845|REF_RGD_ID:2314467 11972644 PDE5A phosphodiesterase 5A gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:732674 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium PMID:17606845|REF_RGD_ID:2314467 11972644 PDE5A phosphodiesterase 5A gene DOID:9006599 Hypertriglyceridemia ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:18787522|REF_RGD_ID:2314464 11972644 PDE5A phosphodiesterase 5A gene DOID:9007096 Stroke ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:19729580|REF_RGD_ID:2314459 11972680 LOC100994016 killer cell immunoglobulin-like receptor 3DL3 gene DOID:630 genetic disease ISO RGD:1352085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11972689 PDIA6 protein disulfide isomerase family A member 6 gene DOID:630 genetic disease ISO RGD:1354298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11972735 OLIG2 oligodendrocyte transcription factor 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1316088 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11972735 OLIG2 oligodendrocyte transcription factor 2 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1316088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 11972735 OLIG2 oligodendrocyte transcription factor 2 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1316088 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11972735 OLIG2 oligodendrocyte transcription factor 2 gene DOID:1824 status epilepticus ISO RGD:1307098 D RGD:9068941 20201218 RGD mRNA, protein:decreased expression:white matter of cerebral lobe PMID:31415741|REF_RGD_ID:40902837 11972735 OLIG2 oligodendrocyte transcription factor 2 gene DOID:630 genetic disease ISO RGD:1316088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11337472|PMID:27479843 11972735 OLIG2 oligodendrocyte transcription factor 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1307098 D RGD:9068941 20201218 RGD PMID:22173726|REF_RGD_ID:40902844 11972735 OLIG2 oligodendrocyte transcription factor 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1316089 D RGD:9068941 20201218 RGD PMID:28452182|REF_RGD_ID:40902836 11972735 OLIG2 oligodendrocyte transcription factor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1316088 D RGD:9068941 20201211 RGD associated with breast cancer PMID:27340107|REF_RGD_ID:40902824 11972735 OLIG2 oligodendrocyte transcription factor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1307098 D RGD:9068941 20201218 RGD PMID:29682587|REF_RGD_ID:40902863 11972735 OLIG2 oligodendrocyte transcription factor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1316089 D RGD:9068941 20201211 RGD PMID:24941845|REF_RGD_ID:40902822 11972735 OLIG2 oligodendrocyte transcription factor 2 gene DOID:9005698 ZTTK Syndrome ISO RGD:1316088 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 11972735 OLIG2 oligodendrocyte transcription factor 2 gene DOID:9009105 HIV Encephalitis ISO RGD:1316088 D RGD:9068941 20201211 RGD PMID:15579294|REF_RGD_ID:40902823 11972735 OLIG2 oligodendrocyte transcription factor 2 gene DOID:9790 toxocariasis ISO RGD:1316089 D RGD:9068941 20201211 RGD PMID:25773181|REF_RGD_ID:40902825 11972741 ATP5F1A ATP synthase F1 subunit alpha gene DOID:0060333 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 ISO RGD:734400 D RGD:7240710 20180130 OMIM 11972741 ATP5F1A ATP synthase F1 subunit alpha gene DOID:0060333 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 ISO RGD:734400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 4 PMID:23599390 11972741 ATP5F1A ATP synthase F1 subunit alpha gene DOID:0060356 Vici syndrome ISO RGD:734400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 11972741 ATP5F1A ATP synthase F1 subunit alpha gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:619993 D RGD:9068941 20200609 RGD PMID:25222487|REF_RGD_ID:13703054 11972741 ATP5F1A ATP synthase F1 subunit alpha gene DOID:0111498 combined oxidative phosphorylation deficiency 22 ISO RGD:734400 D RGD:7240710 20180130 OMIM 11972741 ATP5F1A ATP synthase F1 subunit alpha gene DOID:0111498 combined oxidative phosphorylation deficiency 22 ISO RGD:734400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ATP5F1A-related condition | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 22 PMID:23596069|PMID:25741868|PMID:28492532|PMID:34954817 11972741 ATP5F1A ATP synthase F1 subunit alpha gene DOID:1059 intellectual disability ISO RGD:734400 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11972741 ATP5F1A ATP synthase F1 subunit alpha gene DOID:10652 Alzheimer's disease ISO RGD:734400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19374891 11972741 ATP5F1A ATP synthase F1 subunit alpha gene DOID:10652 Alzheimer's disease onset ISO RGD:734401 D RGD:9068941 20200609 RGD protein:increased modification:inferior parietal cortex (human) PMID:19374891|REF_RGD_ID:13703046 11972741 ATP5F1A ATP synthase F1 subunit alpha gene DOID:10652 Alzheimer's disease treatment ISO RGD:619993 D RGD:9068941 20200609 RGD PMID:25561935|REF_RGD_ID:13703056 11972741 ATP5F1A ATP synthase F1 subunit alpha gene DOID:10763 hypertension ISO RGD:619993 D RGD:9068941 20200609 RGD protein:decreased expression:heart left ventricle (rat) PMID:24388463|REF_RGD_ID:7800726 11972741 ATP5F1A ATP synthase F1 subunit alpha gene DOID:3650 lactic acidosis ISO RGD:734400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lactic acidosis PMID:25741868 11972741 ATP5F1A ATP synthase F1 subunit alpha gene DOID:630 genetic disease ISO RGD:734400 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11972741 ATP5F1A ATP synthase F1 subunit alpha gene DOID:6432 pulmonary hypertension treatment ISO RGD:619993 D RGD:9068941 20200609 RGD chronic thromboembolic pulmonary hypertension PMID:21396162|REF_RGD_ID:13703061 11972741 ATP5F1A ATP synthase F1 subunit alpha gene DOID:8725 vascular dementia ISO RGD:734400 D RGD:9068941 20200609 RGD PMID:24448401|REF_RGD_ID:14696801 11972741 ATP5F1A ATP synthase F1 subunit alpha gene DOID:9000099 Experimental Colitis treatment ISO RGD:619993 D RGD:9068941 20200609 RGD PMID:25689466|REF_RGD_ID:13703055 11972741 ATP5F1A ATP synthase F1 subunit alpha gene DOID:9002231 Fetal Growth Retardation ISO RGD:619993 D RGD:9068941 20200609 RGD protein:increased expression:retroperitoneal fat pad (rat) PMID:26633942|REF_RGD_ID:13703049 11972741 ATP5F1A ATP synthase F1 subunit alpha gene DOID:9002669 Hypoxia ISO RGD:619993 D RGD:9068941 20200609 RGD protein:decreased expression:gastrocnemius (rat) PMID:22401655|REF_RGD_ID:13703058 11972741 ATP5F1A ATP synthase F1 subunit alpha gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:734400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 11972741 ATP5F1A ATP synthase F1 subunit alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619993 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex, mitochondrion (rat) PMID:28526935|REF_RGD_ID:13703047 11972741 ATP5F1A ATP synthase F1 subunit alpha gene DOID:9005930 Endotoxemia ISO RGD:734400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16741687 11972741 ATP5F1A ATP synthase F1 subunit alpha gene DOID:9008691 Liver Injury ISO RGD:619993 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:25772430|REF_RGD_ID:13800895 11972741 ATP5F1A ATP synthase F1 subunit alpha gene DOID:9008824 Sarcopenia ISO RGD:619993 D RGD:9068941 20200609 RGD protein:increased localization:gastrocnemius (rat) PMID:20850499|REF_RGD_ID:13703063 11972757 PIGA phosphatidylinositol glycan anchor biosynthesis class A gene DOID:0060284 paroxysmal nocturnal hemoglobinuria ISO RGD:1607087 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria PMID:10220445|PMID:8167330|PMID:8500164|PMID:8541558|PMID:8557259|PMID:9019395|PMID:9233558|PMID:9787183 11972757 PIGA phosphatidylinositol glycan anchor biosynthesis class A gene DOID:0060713 autosomal recessive congenital ichthyosis 4B ISO RGD:11100 D RGD:9068941 20220825 MouseDO OMIM:242500 11972757 PIGA phosphatidylinositol glycan anchor biosynthesis class A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1607087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11972757 PIGA phosphatidylinositol glycan anchor biosynthesis class A gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1607087 D RGD:7240710 20180130 OMIM 11972757 PIGA phosphatidylinositol glycan anchor biosynthesis class A gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1607087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:10087994|PMID:15307104|PMID:17576681|PMID:19377476|PMID:22305531|PMID:24259184|PMID:24259288|PMID:24357517|PMID:24706016|PMID:24759409|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26545172|PMID:27353043|PMID:28133863|PMID:28441409|PMID:28492532|PMID:2915993|PMID:29159939|PMID:29310717|PMID:29314583|PMID:29656098|PMID:31164858|PMID:31704190|PMID:32176464|PMID:32220244|PMID:32452540|PMID:33763700|PMID:34355501|PMID:34782754|PMID:8541557|PMID:8599356|PMID:8652378|PMID:9307258|PMID:9536098 11972757 PIGA phosphatidylinositol glycan anchor biosynthesis class A gene DOID:1059 intellectual disability ISO RGD:1607087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11972757 PIGA phosphatidylinositol glycan anchor biosynthesis class A gene DOID:12849 autistic disorder ISO RGD:1607087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11972757 PIGA phosphatidylinositol glycan anchor biosynthesis class A gene DOID:13636 Fanconi anemia ISO RGD:1607087 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 11972757 PIGA phosphatidylinositol glycan anchor biosynthesis class A gene DOID:630 genetic disease ISO RGD:1607087 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10087994|PMID:15307104|PMID:24357517|PMID:24706016|PMID:25741868|PMID:26467025|PMID:28492532|PMID:2915993|PMID:29159939|PMID:29314583|PMID:31164858|PMID:32176464|PMID:8541557|PMID:8652378 11972757 PIGA phosphatidylinositol glycan anchor biosynthesis class A gene DOID:9004285 Paroxysmal Nocturnal Hemoglobinuria 1 ISO RGD:1607087 D RGD:7240710 20220727 OMIM 11972757 PIGA phosphatidylinositol glycan anchor biosynthesis class A gene DOID:9004285 Paroxysmal Nocturnal Hemoglobinuria 1 ISO RGD:1607087 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1 PMID:25741868|PMID:28492532|PMID:31704190|PMID:32452540|PMID:34355501 11972757 PIGA phosphatidylinositol glycan anchor biosynthesis class A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11972757 PIGA phosphatidylinositol glycan anchor biosynthesis class A gene DOID:9008096 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS ISO RGD:1607087 D RGD:7240710 20220706 OMIM 11972757 PIGA phosphatidylinositol glycan anchor biosynthesis class A gene DOID:9008096 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS ISO RGD:1607087 D RGD:8554872 20220705 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and hemochromatosis PMID:24259288|PMID:34875027 11972770 BCL3 BCL3 transcription coactivator gene DOID:1936 atherosclerosis ISO RGD:1314971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25374339 11972770 BCL3 BCL3 transcription coactivator gene DOID:630 genetic disease ISO RGD:1314971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11972770 BCL3 BCL3 transcription coactivator gene DOID:649 prion disease severity ISO RGD:1314972 D RGD:9068941 20201218 RGD PMID:17573907|REF_RGD_ID:40902830 11972770 BCL3 BCL3 transcription coactivator gene DOID:9003370 Dyslipidemias ISO RGD:1314971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29670124 11972782 XYLT1 xylosyltransferase 1 gene DOID:0060462 Desbuquois dysplasia ISO RGD:737486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11972782 XYLT1 xylosyltransferase 1 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:737486 D RGD:7240710 20180130 OMIM 11972782 XYLT1 xylosyltransferase 1 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:737486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum | ClinVar Annotator: match by term: Pseudoxanthoma elasticum, modifier of severity of PMID:16571645|PMID:24581741|PMID:25741868|PMID:28085539|PMID:28492532 11972782 XYLT1 xylosyltransferase 1 gene DOID:303 substance-related disorder ISO RGD:737486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11972782 XYLT1 xylosyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:737486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11972782 XYLT1 xylosyltransferase 1 gene DOID:557 kidney disease ISO RGD:620093 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:18095597|REF_RGD_ID:2313146 11972782 XYLT1 xylosyltransferase 1 gene DOID:630 genetic disease ISO RGD:737486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 11972782 XYLT1 xylosyltransferase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620093 D RGD:9068941 20200609 RGD PMID:18765417|REF_RGD_ID:2313145 11972782 XYLT1 xylosyltransferase 1 gene DOID:9001046 Desbuquois Dysplasia 2 ISO RGD:737486 D RGD:7240710 20180130 OMIM 11972782 XYLT1 xylosyltransferase 1 gene DOID:9001046 Desbuquois Dysplasia 2 ISO RGD:737486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 2 PMID:16571645|PMID:22711505|PMID:23982343|PMID:24581741|PMID:25741868|PMID:28462984|PMID:28492532|PMID:30554721 11972782 XYLT1 xylosyltransferase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737486 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:missense mutation:cds:p.A115S (human) PMID:17003309|REF_RGD_ID:2313138 11972782 XYLT1 xylosyltransferase 1 gene DOID:9002457 Experimental Arthritis ISO RGD:620093 D RGD:9068941 20200609 RGD mRNA:decreased expression:articular cartilage PMID:19001053|REF_RGD_ID:2313142 11972782 XYLT1 xylosyltransferase 1 gene DOID:9007521 Desbuquois Dysplasia 1 ISO RGD:737486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 1 PMID:16376579|PMID:16571645|PMID:17576681|PMID:24581741|PMID:25741868|PMID:26601923|PMID:28085539|PMID:28229453|PMID:28462984|PMID:28492532|PMID:30554721|PMID:31785789|PMID:9536098 11972782 XYLT1 xylosyltransferase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737486 D RGD:9068941 20200609 RGD DNA:missense mutation, polymorphisms:cds, intron :p.A115S, IVS3+10C>T, IVS3+30G>C (human) PMID:16759312|REF_RGD_ID:2313136 11972798 CA13 carbonic anhydrase 13 gene DOID:630 genetic disease ISO RGD:1322168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11972809 LAMP2 lysosomal associated membrane protein 2 gene DOID:0050437 Danon disease ISO RGD:735952 D RGD:7240710 20180130 OMIM 11972809 LAMP2 lysosomal associated membrane protein 2 gene DOID:0050437 Danon disease ISO RGD:735952 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Danon disease | ClinVar Annotator: match by term: Glycogen Storage Disease Type IIb | ClinVar Annotator: match by term: Glycogen storage cardiomyopathy PMID:10972294|PMID:12112061|PMID:14598234|PMID:15253947|PMID:15673802|PMID:15792868|PMID:15889279|PMID:15907287|PMID:16144992|PMID:16190986|PMID:16199547|PMID:16217705|PMID:16565504|PMID:17576681|PMID:17899313|PMID:18061453|PMID:18282207|PMID:18312451|PMID:18555174|PMID:18990578|PMID:19318653|PMID:19373884|PMID:19533775|PMID:20173215|PMID:20445193|PMID:20960602|PMID:21070164|PMID:21415759|PMID:21520333|PMID:21896538|PMID:22074992|PMID:22695892|PMID:23168931|PMID:23785128|PMID:23955649|PMID:24033266|PMID:24503780|PMID:24691104|PMID:25091525|PMID:25326635|PMID:25458169|PMID:25525159|PMID:25611685|PMID:25640679|PMID:25741868|PMID:25826782|PMID:26748608|PMID:27179547|PMID:27460667|PMID:27532257|PMID:27600940|PMID:27678261|PMID:27816333|PMID:28255936|PMID:28491796|PMID:28492532|PMID:28771489|PMID:28822614|PMID:28874292|PMID:29753918|PMID:29875424|PMID:29915097|PMID:29961767|PMID:30019023|PMID:30108015|PMID:30847666|PMID:3087571|PMID:30984009|PMID:31464081|PMID:31638414|PMID:31729179|PMID:33495597|PMID:34906502|PMID:6408499|PMID:6450334|PMID:8504498|PMID:9536098 11972809 LAMP2 lysosomal associated membrane protein 2 gene DOID:0050700 cardiomyopathy ISO RGD:735952 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:19533775|PMID:23785128|PMID:24033266|PMID:24503780|PMID:25091525|PMID:25741868|PMID:26748608|PMID:27600940|PMID:28492532|PMID:28771489|PMID:30984009|PMID:31464081|PMID:33495597 11972809 LAMP2 lysosomal associated membrane protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11972809 LAMP2 lysosomal associated membrane protein 2 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:735952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 11972809 LAMP2 lysosomal associated membrane protein 2 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:735952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 11972809 LAMP2 lysosomal associated membrane protein 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:735952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:28492532 11972809 LAMP2 lysosomal associated membrane protein 2 gene DOID:0081292 traumatic brain injury ISO RGD:2990 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus: PMID:28365875|REF_RGD_ID:13703062 11972809 LAMP2 lysosomal associated membrane protein 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:735952 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28492532 11972809 LAMP2 lysosomal associated membrane protein 2 gene DOID:1059 intellectual disability ISO RGD:735952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23785128|PMID:24033266|PMID:25091525|PMID:25741868|PMID:27600940|PMID:28492532|PMID:28771489 11972809 LAMP2 lysosomal associated membrane protein 2 gene DOID:11446 sciatic neuropathy treatment ISO RGD:2990 D RGD:9068941 20200609 RGD PMID:30015858|REF_RGD_ID:13703060 11972809 LAMP2 lysosomal associated membrane protein 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:735952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:15673802|PMID:16199547|PMID:16217705|PMID:17576681|PMID:18282207|PMID:18555174|PMID:19318653|PMID:19373884|PMID:19533775|PMID:21415759|PMID:24033266|PMID:24503780|PMID:25458169|PMID:25525159|PMID:25611685|PMID:25741868|PMID:26748608|PMID:27532257|PMID:28492532|PMID:29753918|PMID:9536098 11972809 LAMP2 lysosomal associated membrane protein 2 gene DOID:12849 autistic disorder ISO RGD:735952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11972809 LAMP2 lysosomal associated membrane protein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:735952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21415759|PMID:24033266|PMID:25741868|PMID:28492532 11972809 LAMP2 lysosomal associated membrane protein 2 gene DOID:13580 cholestasis ISO RGD:2990 D RGD:9068941 20200609 RGD in hemizygote mutant male (LAMP2y/-) PMID:28124283|REF_RGD_ID:13703118 11972809 LAMP2 lysosomal associated membrane protein 2 gene DOID:1561 cognitive disorder ISO RGD:2990 D RGD:9068941 20200609 RGD in hemizygote mutant male (LAMP2y/-) PMID:29720683|REF_RGD_ID:13703117 11972809 LAMP2 lysosomal associated membrane protein 2 gene DOID:1824 status epilepticus ISO RGD:735952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19272430 11972809 LAMP2 lysosomal associated membrane protein 2 gene DOID:2475 chronic conjunctivitis ISO RGD:2990 D RGD:9068941 20200609 RGD in hemizygote mutant male (LAMP2y/-) PMID:29720683|REF_RGD_ID:13703117 11972809 LAMP2 lysosomal associated membrane protein 2 gene DOID:5844 myocardial infarction ISO RGD:2990 D RGD:9068941 20200609 RGD mRNA:increased expression:plantaris PMID:24427319|REF_RGD_ID:11557988 11972809 LAMP2 lysosomal associated membrane protein 2 gene DOID:630 genetic disease ISO RGD:735952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11972809 LAMP2 lysosomal associated membrane protein 2 gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:10857 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:22850625|REF_RGD_ID:11560530 11972809 LAMP2 lysosomal associated membrane protein 2 gene DOID:9007905 Trifascicular Block ISO RGD:735952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trifascicular block on electrocardiogram PMID:28492532 11972828 MAN2C1 mannosidase alpha class 2C member 1 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:733679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 11972828 MAN2C1 mannosidase alpha class 2C member 1 gene DOID:1826 epilepsy ISO RGD:733679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11972828 MAN2C1 mannosidase alpha class 2C member 1 gene DOID:2717 Bloom syndrome ISO RGD:733679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11972828 MAN2C1 mannosidase alpha class 2C member 1 gene DOID:5419 schizophrenia ISO RGD:733679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11972828 MAN2C1 mannosidase alpha class 2C member 1 gene DOID:630 genetic disease ISO RGD:733679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11972828 MAN2C1 mannosidase alpha class 2C member 1 gene DOID:9001812 CONGENITAL DISORDER OF DEGLYCOSYLATION 2 ISO RGD:733679 D RGD:7240710 20220427 OMIM 11972828 MAN2C1 mannosidase alpha class 2C member 1 gene DOID:9001812 CONGENITAL DISORDER OF DEGLYCOSYLATION 2 ISO RGD:733679 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Congenital disorder of deglycosylation 2 PMID:25741868|PMID:35045343 11972828 MAN2C1 mannosidase alpha class 2C member 1 gene DOID:9006791 Hypogonadotropic Hypogonadism 27 without Anosmia ISO RGD:733679 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 27 without anosmia 11972828 MAN2C1 mannosidase alpha class 2C member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:733679 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 11972828 MAN2C1 mannosidase alpha class 2C member 1 gene DOID:9256 colorectal cancer ISO RGD:733679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:10268 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:23861362|PMID:25447171|PMID:25661095|PMID:25741868|PMID:28492532 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:0050451 Brugada syndrome ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:17224476|PMID:17576681|PMID:20817017|PMID:22385640|PMID:22581653|PMID:22840528|PMID:23414114|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:25333069|PMID:25633834|PMID:25637381|PMID:25741868|PMID:25974115|PMID:27231019|PMID:27662471|PMID:27711072|PMID:28341588|PMID:28492532|PMID:28750076|PMID:30172029|PMID:30279520|PMID:31293105|PMID:31539150|PMID:31737537|PMID:32145446|PMID:9536098 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:0050700 cardiomyopathy ISO RGD:10268 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25184293|PMID:25741868|PMID:26230511|PMID:26386135|PMID:27502440|PMID:28492532|PMID:29046645|PMID:30345660 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:0050741 alcohol dependence ISO RGD:2245 D RGD:9068941 20220609 RGD mRNA, protein:increased expression:amygdala, hippocampus (rat) PMID:27905406|REF_RGD_ID:152985537 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:0050741 alcohol dependence ISO RGD:2245 D RGD:9068941 20220609 RGD protein:increased expression:inferior colliculus (human) PMID:25556199|REF_RGD_ID:152985539 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:0050793 short QT syndrome ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short QT Syndrome 4 | ClinVar Annotator: match by term: Short QT syndrome PMID:20031608|PMID:20817017|PMID:22840528|PMID:23861362|PMID:25447171|PMID:25633834|PMID:25741868|PMID:28492532 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:0060041 autism spectrum disorder ISO RGD:10268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:0060173 Timothy syndrome ISO RGD:10268 D RGD:7240710 20180130 OMIM 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:0060173 Timothy syndrome ISO RGD:10268 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CACNA1C-Related Disorder | ClinVar Annotator: match by term: Long qt syndrome 8 | ClinVar Annotator: match by term: Timothy syndrome | ClinVar Annotator: match by term: Timothy syndrome type 1 PMID:10343407|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22106044|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26637798|PMID:26822303|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28492532|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30023270|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31293105|PMID:31376648|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32145446|PMID:32161207|PMID:33488405|PMID:9536098 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:10268 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25260352|PMID:25633834|PMID:25741868|PMID:28492532|PMID:30847666 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:0110220 Brugada syndrome 3 ISO RGD:10268 D RGD:7240710 20180130 OMIM 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:0110220 Brugada syndrome 3 ISO RGD:10268 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome 3 PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21878566|PMID:21910241|PMID:22385640|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23313911|PMID:23414114|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24728418|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25500949|PMID:25633834|PMID:25741868|PMID:25974115|PMID:26227324|PMID:26230511|PMID:26383259|PMID:26386135|PMID:26637798|PMID:26822303|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28371864|PMID:28492532|PMID:28600387|PMID:28704380|PMID:28750076|PMID:29046645|PMID:29568937|PMID:29915097|PMID:30027834|PMID:30279520|PMID:30345660|PMID:31539150|PMID:31737537|PMID:32145446|PMID:33488405|PMID:9536098 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:10268 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:25741868|PMID:26253506|PMID:28492532|PMID:30025578|PMID:30172029|PMID:31110529|PMID:31408100|PMID:31430211|PMID:32161207 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:0110644 long QT syndrome 1 ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:18250309|PMID:19074970|PMID:20817017|PMID:21307850|PMID:21878566|PMID:21910241|PMID:22581653|PMID:23313911|PMID:23414114|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23678275|PMID:23690510|PMID:24033266|PMID:24183960|PMID:25333069|PMID:25741868|PMID:25974115|PMID:26227324|PMID:26822303|PMID:27593853|PMID:27711072|PMID:27868338|PMID:28211989|PMID:28371864|PMID:28492532 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:10485 esophageal atresia ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:1059 intellectual disability ISO RGD:10268 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:34163037 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:1059 intellectual disability ISO RGD:10268 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:10652 Alzheimer's disease ISO RGD:1550302 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:23403102|REF_RGD_ID:13782264 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:10763 hypertension ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22949532 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:10268 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Concentric hypertrophic cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:20817017|PMID:22840528|PMID:23861362|PMID:24439875|PMID:25260352|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26498160|PMID:28492532 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Concentric hypertrophic cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:20817017|PMID:22840528|PMID:23861362|PMID:24439875|PMID:25260352|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26498160|PMID:28492532|PMID:32145446 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:12849 autistic disorder ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15454078 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:12930 dilated cardiomyopathy ISO RGD:10268 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23677916|PMID:24033266|PMID:25184293|PMID:25741868|PMID:28492532|PMID:30027834 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:1470 major depressive disorder ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28696432 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:1612 breast cancer ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, invasive ductal PMID:28492532 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:1826 epilepsy ISO RGD:10268 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seizure PMID:33818783|PMID:34163037 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:1969 cerebral palsy ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868|PMID:28492532 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:2030 anxiety disorder ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28696432 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:2055 post-traumatic stress disorder ISO RGD:10268 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Post-traumatic stress disorder PMID:32332995 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:12166659|PMID:15454078|PMID:15863612|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23174487|PMID:23414114|PMID:23575362|PMID:23631430|PMID:23677916|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26230511|PMID:26253506|PMID:26386135|PMID:26498160|PMID:26743238|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27662471|PMID:27711072|PMID:27871843|PMID:27920829|PMID:27930701|PMID:28166811|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29568937|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30530868|PMID:30847666|PMID:31130284|PMID:31408100|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:33488405|PMID:9536098 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:2547171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26743238|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29396286|PMID:29568937|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:33488405|PMID:9536098 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26743238|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:33488405|PMID:9536098 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:9536098 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27854218|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:9536098 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34163037|PMID:9536098 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:3007 breast ductal carcinoma ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma PMID:28492532 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:3008 invasive ductal carcinoma ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, invasive ductal PMID:28492532 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:3312 bipolar disorder ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711365|PMID:21926972|PMID:21926974|PMID:31043756 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:10268 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25633834|PMID:25741868|PMID:28492532|PMID:28600387|PMID:28616568|PMID:29071820|PMID:31408100|PMID:32233023 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:397 restrictive cardiomyopathy ISO RGD:10268 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:20817017|PMID:22840528|PMID:23861362|PMID:25633834|PMID:25741868|PMID:27662471|PMID:28492532|PMID:28750076 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:5419 schizophrenia ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:6000 congestive heart failure ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:25741868|PMID:28492532 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:6088 acute stress disorder ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28696432 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:612 primary immunodeficiency disease ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15454078 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:630 genetic disease ISO RGD:10268 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10343407|PMID:23861362|PMID:25260352|PMID:25633834|PMID:25741868|PMID:27920829|PMID:28492532|PMID:34163037 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:6420 pulmonary valve stenosis ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:28492532 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9000064 Cardiac Arrhythmias ISO RGD:10268 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:24690944|PMID:25741868|PMID:26253506|PMID:27218670|PMID:28492532|PMID:30025578|PMID:30172029|PMID:31110529|PMID:31408100|PMID:31430211|PMID:32161207 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28696432 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9000495 Tremor ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intention tremor 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9001366 Psychomotor Agitation ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28696432 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9002231 Fetal Growth Retardation ISO RGD:2245 D RGD:9068941 20220609 RGD protein:decreased expression:pancreas (rat) PMID:20873977|REF_RGD_ID:152985538 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9002775 Cognitive Dysfunction ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28696432 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:17224476|PMID:17576681|PMID:20817017|PMID:22581653|PMID:22840528|PMID:23414114|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24183960|PMID:25333069|PMID:25633834|PMID:25637381|PMID:25741868|PMID:25974115|PMID:27231019|PMID:27662471|PMID:27711072|PMID:28341588|PMID:28492532|PMID:28750076|PMID:30279520|PMID:31293105|PMID:31539150|PMID:31737537|PMID:32145446|PMID:9536098 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9003163 Heart Block ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:25741868 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:10268 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25260352|PMID:25741868|PMID:34163037 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9004730 Romano-Ward Syndrome ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:18250309|PMID:19074970|PMID:21307850|PMID:21878566|PMID:21910241|PMID:22581653|PMID:23313911|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23678275|PMID:23690510|PMID:25741868|PMID:26227324|PMID:26822303|PMID:27593853|PMID:27868338|PMID:28211989|PMID:28371864|PMID:28492532 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9005077 Joint Instability ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joint laxity 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9005141 Ventricular Tachycardia ISO RGD:10268 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25260352|PMID:25741868|PMID:28492532|PMID:28704380|PMID:31737537 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9005466 Language Development Disorders ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Expressive language delay 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9006294 Congenital Limb Deformities ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15454078 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9006904 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES ISO RGD:10268 D RGD:7240710 20221214 OMIM 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9006904 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES ISO RGD:10268 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:18250309|PMID:19074970|PMID:20817017|PMID:21307850|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22840528|PMID:23313911|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23678275|PMID:23690510|PMID:23861362|PMID:25633834|PMID:25741868|PMID:26227324|PMID:26822303|PMID:27593853|PMID:27662471|PMID:27868338|PMID:28211989|PMID:28371864|PMID:28492532|PMID:28750076|PMID:30513141|PMID:34163037 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:10268 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia PMID:25260352|PMID:25633834|PMID:25741868|PMID:28492532|PMID:30847666 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9007820 Sudden Death ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:25741868|PMID:28492532 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9007925 Sudden Cardiac Death ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:25741868|PMID:28492532 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:10268 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:28492532 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9120 amyloidosis ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidosis PMID:25741868|PMID:28492532 11972864 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9993 hypoglycemia ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15454078 11972939 MAGEA1 MAGE family member A1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1348245 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11972939 MAGEA1 MAGE family member A1 gene DOID:0050476 Barth syndrome ISO RGD:1348245 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11972939 MAGEA1 MAGE family member A1 gene DOID:0050800 creatine transporter deficiency ISO RGD:1348245 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11972939 MAGEA1 MAGE family member A1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11972939 MAGEA1 MAGE family member A1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1348245 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11972939 MAGEA1 MAGE family member A1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1348245 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11972939 MAGEA1 MAGE family member A1 gene DOID:12849 autistic disorder ISO RGD:1348245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11972939 MAGEA1 MAGE family member A1 gene DOID:13628 favism ISO RGD:1348245 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11972939 MAGEA1 MAGE family member A1 gene DOID:1909 melanoma ISO RGD:1348245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26640592 11972939 MAGEA1 MAGE family member A1 gene DOID:2729 dyskeratosis congenita ISO RGD:1348245 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11972939 MAGEA1 MAGE family member A1 gene DOID:607 paraplegia ISO RGD:1348245 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11972939 MAGEA1 MAGE family member A1 gene DOID:630 genetic disease ISO RGD:1348245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11972939 MAGEA1 MAGE family member A1 gene DOID:684 hepatocellular carcinoma ISO RGD:1348245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11972956 TEX12 testis expressed 12 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1351277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:19830588|PMID:20059486|PMID:25741868|PMID:28492532|PMID:31332730|PMID:32651154|PMID:33234470|PMID:33822819|PMID:7563095 11972956 TEX12 testis expressed 12 gene DOID:1059 intellectual disability ISO RGD:1351277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11972956 TEX12 testis expressed 12 gene DOID:630 genetic disease ISO RGD:1351277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11972956 TEX12 testis expressed 12 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1351277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11972956 TEX12 testis expressed 12 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1351277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 11972971 IFI44 interferon induced protein 44 gene DOID:0080600 COVID-19 ISO RGD:1321473 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11972971 IFI44 interferon induced protein 44 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1321473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 11972971 IFI44 interferon induced protein 44 gene DOID:630 genetic disease ISO RGD:1321473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11972971 IFI44 interferon induced protein 44 gene DOID:9001488 Human Influenza ISO RGD:1321473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11972971 IFI44 interferon induced protein 44 gene DOID:9003281 Spontaneous Abortions ISO RGD:1321473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11973007 LOC100978149 NADH-cytochrome b5 reductase 2 gene DOID:630 genetic disease ISO RGD:1602002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11973044 GEN1 GEN1 Holliday junction 5' flap endonuclease gene DOID:630 genetic disease ISO RGD:1606393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11973044 GEN1 GEN1 Holliday junction 5' flap endonuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:26845104|PMID:28492532|PMID:9536098 11973044 GEN1 GEN1 Holliday junction 5' flap endonuclease gene DOID:9008939 Breast Neoplasms ISO RGD:1606393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:25741868|PMID:28492532 11973044 GEN1 GEN1 Holliday junction 5' flap endonuclease gene DOID:9256 colorectal cancer ISO RGD:1606393 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:25741868 11973083 DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1349519 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:25741868|PMID:28492532 11973083 DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:0080307 myofibrillar myopathy ISO RGD:1349519 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant PMID:26467025|PMID:27642634|PMID:28422763|PMID:28492532 11973083 DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:0110305 autosomal dominant limb-girdle muscular dystrophy type 1 ISO RGD:1349519 D RGD:7240710 20180130 OMIM 11973083 DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:0110305 autosomal dominant limb-girdle muscular dystrophy type 1 ISO RGD:1349519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1D | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal dominant 1 PMID:10489050|PMID:17576681|PMID:20682716|PMID:21376592|PMID:22334415|PMID:22366786|PMID:23394708|PMID:24033266|PMID:24594375|PMID:24920671|PMID:25214167|PMID:25306414|PMID:25741868|PMID:26205529|PMID:26338452|PMID:26362252|PMID:26371419|PMID:26467025|PMID:26847086|PMID:27642634|PMID:27671536|PMID:28233300|PMID:28422763|PMID:28492532|PMID:28794355|PMID:28973549|PMID:29437287|PMID:29970176|PMID:30564623|PMID:30838352|PMID:31034989|PMID:31955980|PMID:32528171|PMID:8533766|PMID:9536098|PMID:9973293 11973083 DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1349519 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:22354285|PMID:22683912|PMID:23370340|PMID:24095820|PMID:28284480|PMID:28492532|PMID:28588853|PMID:29983323|PMID:29992659|PMID:31334757|PMID:32677110 11973083 DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1349519 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Dominant PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 11973083 DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:12849 autistic disorder ISO RGD:1349519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11973083 DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:14330 Parkinson's disease ISO RGD:1349519 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease PMID:25741868|PMID:28492532 11973083 DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:630 genetic disease ISO RGD:1349519 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11973083 DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:9005532 Muscle Weakness ISO RGD:1349519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868|PMID:28492532 11973121 MLLT10 MLLT10 histone lysine methyltransferase DOT1L cofactor gene DOID:1909 melanoma ISO RGD:1322026 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11973121 MLLT10 MLLT10 histone lysine methyltransferase DOT1L cofactor gene DOID:3565 meningioma ISO RGD:1322026 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:21804547 11973121 MLLT10 MLLT10 histone lysine methyltransferase DOT1L cofactor gene DOID:4450 renal cell carcinoma ISO RGD:1322026 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 11973121 MLLT10 MLLT10 histone lysine methyltransferase DOT1L cofactor gene DOID:630 genetic disease ISO RGD:1322026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11973121 MLLT10 MLLT10 histone lysine methyltransferase DOT1L cofactor gene DOID:8864 acute monocytic leukemia ISO RGD:1322026 D RGD:9068941 20200611 RGD PMID:7662954|REF_RGD_ID:1598771 11973121 MLLT10 MLLT10 histone lysine methyltransferase DOT1L cofactor gene DOID:9119 acute myeloid leukemia ISO RGD:1322026 D RGD:7240710 20200610 OMIM 11973121 MLLT10 MLLT10 histone lysine methyltransferase DOT1L cofactor gene DOID:9119 acute myeloid leukemia ISO RGD:1322026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:25741868 11973149 LOC100982148 LMO7 downstream neighbor protein gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:6901146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11973157 AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 gene DOID:0080600 COVID-19 ISO RGD:1319477 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11973157 AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 gene DOID:12849 autistic disorder ISO RGD:1319477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11973157 AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 gene DOID:630 genetic disease ISO RGD:1319477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11973157 AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1319477 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11973190 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:0050908 myelodysplastic syndrome ISO RGD:1348038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24571310 11973190 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:0080199 colorectal carcinoma ISO RGD:1348038 D RGD:9068941 20200609 RGD PMID:14732230|REF_RGD_ID:1580058 11973190 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:10487 Hirschsprung's disease ISO RGD:1348038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29429387 11973190 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:2913 acute pancreatitis ISO RGD:1316582 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic acinar cell: PMID:19585519|REF_RGD_ID:9491843 11973190 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:3068 glioblastoma ISO RGD:1348038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19823589 11973190 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:3070 high grade glioma ISO RGD:1348038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23383216 11973190 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:3347 osteosarcoma ISO RGD:1348038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21311599 11973190 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1316582 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19585519|REF_RGD_ID:9491843 11973190 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1348038 D RGD:9068941 20200609 RGD protein:increased expression:exocrine pancreas: PMID:19585519|REF_RGD_ID:9491843 11973190 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1348038 D RGD:9068941 20210416 RGD PMID:21165554|REF_RGD_ID:126781701 11973190 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:5176 renal Wilms' tumor ISO RGD:1348038 D RGD:9068941 20221103 RGD human tumor in mouse model PMID:18467665|REF_RGD_ID:155631277 11973190 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1348038 D RGD:9068941 20200609 RGD PMID:26919246|REF_RGD_ID:14928318 11973190 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9000918 Disease Progression ISO RGD:1348038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24571310 11973190 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9001865 Myeloid Leukemia, Accelerated Phase ISO RGD:1348038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24571310 11973190 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9003204 Neovascularization, Pathologic ISO RGD:1348038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23383216 11973190 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9004078 Pancreatic Intraepithelial Neoplasia ISO RGD:1316582 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic acinar cell: PMID:19585519|REF_RGD_ID:9491843 11973190 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9004078 Pancreatic Intraepithelial Neoplasia ISO RGD:1348038 D RGD:9068941 20200609 RGD protein:increased expression:exocrine pancreas: PMID:19585519|REF_RGD_ID:9491843 11973190 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9006190 Chronic Pancreatitis ISO RGD:1316582 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic acinar cell: PMID:19585519|REF_RGD_ID:9491843 11973190 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9006190 Chronic Pancreatitis ISO RGD:1348038 D RGD:9068941 20200609 RGD protein:increased expression:exocrine pancreas: PMID:19585519|REF_RGD_ID:9491843 11973190 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1316582 D RGD:9068941 20221103 RGD mRNA:altered expression:kidney (mouse) PMID:18467665|REF_RGD_ID:155631277 11973190 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9119 acute myeloid leukemia ISO RGD:1348038 D RGD:9068941 20200609 RGD PMID:16105758|REF_RGD_ID:1580059 11973212 SLC33A1 solute carrier family 33 member 1 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:732825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant 11973212 SLC33A1 solute carrier family 33 member 1 gene DOID:0110794 hereditary spastic paraplegia 42 ISO RGD:732825 D RGD:7240710 20180130 OMIM 11973212 SLC33A1 solute carrier family 33 member 1 gene DOID:0110794 hereditary spastic paraplegia 42 ISO RGD:732825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 42 PMID:19061983|PMID:24583203|PMID:25402622|PMID:25741868|PMID:26467025|PMID:28492532 11973212 SLC33A1 solute carrier family 33 member 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:732825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:24583203|PMID:25741868|PMID:26467025|PMID:28492532 11973212 SLC33A1 solute carrier family 33 member 1 gene DOID:607 paraplegia ISO RGD:732825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:22243965|PMID:24583203|PMID:25741868|PMID:26467025|PMID:27306358|PMID:28492532 11973212 SLC33A1 solute carrier family 33 member 1 gene DOID:630 genetic disease ISO RGD:732825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11973212 SLC33A1 solute carrier family 33 member 1 gene DOID:83 cataract ISO RGD:732825 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22243965 11973212 SLC33A1 solute carrier family 33 member 1 gene DOID:9004538 Hearing Loss ISO RGD:732825 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22243965 11973212 SLC33A1 solute carrier family 33 member 1 gene DOID:9005895 Congenital Cataracts, Hearing Loss, and Neurodegeneration ISO RGD:732825 D RGD:7240710 20180130 OMIM 11973212 SLC33A1 solute carrier family 33 member 1 gene DOID:9005895 Congenital Cataracts, Hearing Loss, and Neurodegeneration ISO RGD:732825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataracts, hearing loss, and neurodegeneration PMID:15902551|PMID:22243965|PMID:22508683|PMID:25741868|PMID:28492532|PMID:31194315 11973212 SLC33A1 solute carrier family 33 member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:732825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:32581362 11973232 COMMD9 COMM domain containing 9 gene DOID:0080600 COVID-19 ISO RGD:1317050 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11973232 COMMD9 COMM domain containing 9 gene DOID:1059 intellectual disability ISO RGD:1317050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11973232 COMMD9 COMM domain containing 9 gene DOID:630 genetic disease ISO RGD:1317050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11973248 ANKLE1 ankyrin repeat and LEM domain containing 1 gene DOID:0080600 COVID-19 ISO RGD:1605878 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11973248 ANKLE1 ankyrin repeat and LEM domain containing 1 gene DOID:630 genetic disease ISO RGD:1605878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11973270 MMP16 matrix metallopeptidase 16 gene DOID:630 genetic disease ISO RGD:735917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11973284 LOC100988641 zinc finger protein 266 gene DOID:0080600 COVID-19 ISO RGD:1352902 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11973284 LOC100988641 zinc finger protein 266 gene DOID:12849 autistic disorder ISO RGD:1352902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11973284 LOC100988641 zinc finger protein 266 gene DOID:630 genetic disease ISO RGD:1352902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11973330 GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:0050572 cone-rod dystrophy ISO RGD:1353704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:15060128|PMID:19370764|PMID:20301784|PMID:25741868|PMID:28492532 11973330 GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1353704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 11973330 GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:0080488 mucolipidosis ISO RGD:1353704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucolipidosis PMID:24033266|PMID:25741868 11973330 GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:0080678 mucolipidosis III gamma ISO RGD:1353704 D RGD:7240710 20190315 OMIM 11973330 GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:0080678 mucolipidosis III gamma ISO RGD:1353704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: MUCOLIPIDOSIS III, VARIANT FORM | ClinVar Annotator: match by term: Mucolipidosis type III gamma PMID:10712439|PMID:15060128|PMID:15532026|PMID:16199547|PMID:17576681|PMID:19370764|PMID:19659762|PMID:20034096|PMID:20147709|PMID:20301784|PMID:20951619|PMID:21792934|PMID:23430803|PMID:24033266|PMID:24123366|PMID:24316125|PMID:24767253|PMID:24807205|PMID:25182519|PMID:25741868|PMID:26130485|PMID:26935170|PMID:27038293|PMID:27243974|PMID:27896079|PMID:28492532|PMID:28950892|PMID:29170090|PMID:29704188|PMID:30235039|PMID:30507725|PMID:30882951|PMID:32651481|PMID:9536098 11973330 GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1353704 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11973330 GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:1826 epilepsy ISO RGD:1353704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11973330 GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1353704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11973330 GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:3343 glycoproteinosis ISO RGD:1353704 D RGD:9068941 20200609 RGD mucolipidosis IIIC/variant pseudo-hurler polydystrophy PMID:10712439|REF_RGD_ID:1599045 11973330 GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:630 genetic disease ISO RGD:1353704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11973345 SLC25A23 solute carrier family 25 member 23 gene DOID:0080490 mucolipidosis type IV ISO RGD:1343183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11973345 SLC25A23 solute carrier family 25 member 23 gene DOID:630 genetic disease ISO RGD:1343183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11973364 MEP1B meprin A subunit beta gene DOID:1059 intellectual disability ISO RGD:737385 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11973364 MEP1B meprin A subunit beta gene DOID:630 genetic disease ISO RGD:737385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11973385 PRSS56 serine protease 56 gene DOID:0060476 Perlman syndrome ISO RGD:5128927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11973385 PRSS56 serine protease 56 gene DOID:0060835 isolated microphthalmia 6 ISO RGD:5128927 D RGD:7240710 20180130 OMIM 11973385 PRSS56 serine protease 56 gene DOID:0060835 isolated microphthalmia 6 ISO RGD:5128927 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 6 PMID:15823920|PMID:17576681|PMID:19526372|PMID:21397065|PMID:21532570|PMID:21670352|PMID:21850159|PMID:22908982|PMID:23127749|PMID:24033266|PMID:24227917|PMID:25587058|PMID:25741868|PMID:28492532|PMID:31266062|PMID:31992737|PMID:32830442|PMID:32996714|PMID:33203948|PMID:9536098 11973385 PRSS56 serine protease 56 gene DOID:0080634 nanophthalmos ISO RGD:5128927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nanophthalmia PMID:19526372|PMID:21397065|PMID:21532570|PMID:21670352|PMID:22908982|PMID:23127749|PMID:24033266|PMID:24227917|PMID:25741868|PMID:28492532|PMID:31266062|PMID:31992737 11973385 PRSS56 serine protease 56 gene DOID:0110991 Joubert syndrome 22 ISO RGD:5128927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11973385 PRSS56 serine protease 56 gene DOID:10629 microphthalmia ISO RGD:5128927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21532570 11973385 PRSS56 serine protease 56 gene DOID:11830 myopia ISO RGD:5128927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 11973385 PRSS56 serine protease 56 gene DOID:13550 angle-closure glaucoma ISO RGD:5128927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21532570 11973385 PRSS56 serine protease 56 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:5128927 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 11973385 PRSS56 serine protease 56 gene DOID:630 genetic disease ISO RGD:5128927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11973385 PRSS56 serine protease 56 gene DOID:9005962 Multiple Pterygium Syndrome, Lethal Type ISO RGD:5128927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:19526372|PMID:21532570|PMID:24033266|PMID:28492532 11973403 CDC42EP5 CDC42 effector protein 5 gene DOID:630 genetic disease ISO RGD:1318117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11973408 OTOP1 otopetrin 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:735811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 11973408 OTOP1 otopetrin 1 gene DOID:630 genetic disease ISO RGD:735811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11973419 KIF26A kinesin family member 26A gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1317452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11973419 KIF26A kinesin family member 26A gene DOID:630 genetic disease ISO RGD:1317452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:36228617 11973419 KIF26A kinesin family member 26A gene DOID:9007250 Complex Cortical Dysplasia with Other Brain Malformations 11 ISO RGD:1317452 D RGD:7240710 20221214 OMIM 11973419 KIF26A kinesin family member 26A gene DOID:9007250 Complex Cortical Dysplasia with Other Brain Malformations 11 ISO RGD:1317452 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 11 PMID:36228617 11973438 DNAAF5 dynein axonemal assembly factor 5 gene DOID:0110604 primary ciliary dyskinesia 18 ISO RGD:1606283 D RGD:7240710 20190315 OMIM 11973438 DNAAF5 dynein axonemal assembly factor 5 gene DOID:0110604 primary ciliary dyskinesia 18 ISO RGD:1606283 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 18 PMID:20301301|PMID:23040496|PMID:24033266|PMID:24307375|PMID:25232951|PMID:25741868|PMID:28492532|PMID:29358401|PMID:29363216 11973438 DNAAF5 dynein axonemal assembly factor 5 gene DOID:5419 schizophrenia ISO RGD:1606283 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11973438 DNAAF5 dynein axonemal assembly factor 5 gene DOID:630 genetic disease ISO RGD:1606283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11973438 DNAAF5 dynein axonemal assembly factor 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1606283 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:20301301|PMID:23040496|PMID:24033266|PMID:24307375|PMID:25232951|PMID:25741868|PMID:28492532|PMID:29358401|PMID:29363216|PMID:9536098 11973460 ZNF197 zinc finger protein 197 gene DOID:630 genetic disease ISO RGD:1353796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11973496 MAGEC3 MAGE family member C3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603580 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11973496 MAGEC3 MAGE family member C3 gene DOID:12849 autistic disorder ISO RGD:1603580 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11973496 MAGEC3 MAGE family member C3 gene DOID:630 genetic disease ISO RGD:1603580 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11973513 GALNT8 polypeptide N-acetylgalactosaminyltransferase 8 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1350587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 11973513 GALNT8 polypeptide N-acetylgalactosaminyltransferase 8 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1350587 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11973513 GALNT8 polypeptide N-acetylgalactosaminyltransferase 8 gene DOID:630 genetic disease ISO RGD:1350587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11973513 GALNT8 polypeptide N-acetylgalactosaminyltransferase 8 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1350587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11973536 ZNF425 zinc finger protein 425 gene DOID:630 genetic disease ISO RGD:1606140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11973554 LACTBL1 lactamase beta like 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:3077861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11973563 CD93 CD93 molecule gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:1351917 D RGD:9068941 20220310 RGD PMID:32626543|REF_RGD_ID:151665104 11973563 CD93 CD93 molecule gene DOID:630 genetic disease ISO RGD:1351917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11973574 CPO carboxypeptidase O gene DOID:14557 primary pulmonary hypertension ISO RGD:1342793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11973574 CPO carboxypeptidase O gene DOID:630 genetic disease ISO RGD:1342793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11973574 CPO carboxypeptidase O gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11973587 NOC2L NOC2 like nucleolar associated transcriptional repressor gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1606804 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11973587 NOC2L NOC2 like nucleolar associated transcriptional repressor gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606804 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11973587 NOC2L NOC2 like nucleolar associated transcriptional repressor gene DOID:0110994 Joubert syndrome 25 ISO RGD:1606804 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11973587 NOC2L NOC2 like nucleolar associated transcriptional repressor gene DOID:0111934 immunodeficiency 38 ISO RGD:1606804 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11973587 NOC2L NOC2 like nucleolar associated transcriptional repressor gene DOID:0111935 immunodeficiency 16 ISO RGD:1606804 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11973587 NOC2L NOC2 like nucleolar associated transcriptional repressor gene DOID:630 genetic disease ISO RGD:1606804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11973587 NOC2L NOC2 like nucleolar associated transcriptional repressor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11973587 NOC2L NOC2 like nucleolar associated transcriptional repressor gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1606804 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11973608 ZFP36L2 ZFP36 ring finger protein like 2 gene DOID:0080600 COVID-19 ISO RGD:1318953 D RGD:9068941 20200709 RGD mRNA:decreased expression:memory B cells (human) PMID:32377375|REF_RGD_ID:32716422 11973608 ZFP36L2 ZFP36 ring finger protein like 2 gene DOID:3883 Lynch syndrome ISO RGD:1318953 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11973608 ZFP36L2 ZFP36 ring finger protein like 2 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1318953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28671688 11973608 ZFP36L2 ZFP36 ring finger protein like 2 gene DOID:630 genetic disease ISO RGD:1318953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11973608 ZFP36L2 ZFP36 ring finger protein like 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 11973608 ZFP36L2 ZFP36 ring finger protein like 2 gene DOID:9004592 Oocyte/Zygote/Embryo Maturation Arrest 13 ISO RGD:1318953 D RGD:7240710 20221214 OMIM 11973608 ZFP36L2 ZFP36 ring finger protein like 2 gene DOID:9004592 Oocyte/Zygote/Embryo Maturation Arrest 13 ISO RGD:1318953 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 13 PMID:34611029 11973608 ZFP36L2 ZFP36 ring finger protein like 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 11973615 LOC100978214 stAR-related lipid transfer protein 13 gene DOID:0080600 COVID-19 ISO RGD:1344085 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11973615 LOC100978214 stAR-related lipid transfer protein 13 gene DOID:630 genetic disease ISO RGD:1344085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11973615 LOC100978214 stAR-related lipid transfer protein 13 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11973649 KLLN killin, p53 regulated DNA replication inhibitor gene DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome ISO RGD:5013846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:12844284|PMID:16773562|PMID:17427195|PMID:21194675|PMID:21417916|PMID:21532617|PMID:2338203|PMID:24033266|PMID:25669429|PMID:25741868|PMID:26467025|PMID:27535533|PMID:27878467|PMID:27884173|PMID:28492532 11973649 KLLN killin, p53 regulated DNA replication inhibitor gene DOID:0050787 juvenile polyposis syndrome ISO RGD:5013846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 11973649 KLLN killin, p53 regulated DNA replication inhibitor gene DOID:0060867 macrocephaly-autism syndrome ISO RGD:5013846 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Macrocephaly-autism syndrome PMID:12844284|PMID:16773562|PMID:17427195|PMID:21417916|PMID:2338203|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27535533|PMID:27878467|PMID:27884173|PMID:28492532 11973649 KLLN killin, p53 regulated DNA replication inhibitor gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:5013846 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:11906179|PMID:12844284|PMID:16052674|PMID:16287957|PMID:16685657|PMID:16773562|PMID:17427195|PMID:18456716|PMID:18510548|PMID:20862607|PMID:21194675|PMID:21417916|PMID:21532617|PMID:21633361|PMID:21926107|PMID:21956414|PMID:22171747|PMID:22382802|PMID:22595938|PMID:22993021|PMID:23132533|PMID:23161105|PMID:23331837|PMID:23335809|PMID:2338203|PMID:23399955|PMID:23475934|PMID:24033266|PMID:25669429|PMID:25741868|PMID:26229595|PMID:26467025|PMID:26800850|PMID:27535533|PMID:27878467|PMID:27884173|PMID:28492532|PMID:28526761|PMID:30311380|PMID:9286463|PMID:9467011 11973649 KLLN killin, p53 regulated DNA replication inhibitor gene DOID:0081000 Cowden syndrome 4 ISO RGD:5013846 D RGD:7240710 20180829 OMIM 11973649 KLLN killin, p53 regulated DNA replication inhibitor gene DOID:0081000 Cowden syndrome 4 ISO RGD:5013846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cowden syndrome 4 PMID:25741868 11973649 KLLN killin, p53 regulated DNA replication inhibitor gene DOID:1826 epilepsy ISO RGD:5013846 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25669429|PMID:25741868|PMID:27535533 11973649 KLLN killin, p53 regulated DNA replication inhibitor gene DOID:630 genetic disease ISO RGD:5013846 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11973649 KLLN killin, p53 regulated DNA replication inhibitor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:5013846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12844284|PMID:16773562|PMID:17427195|PMID:20862607|PMID:21194675|PMID:21417916|PMID:21532617|PMID:21956414|PMID:2338203|PMID:24033266|PMID:25669429|PMID:25741868|PMID:26467025|PMID:27535533|PMID:27878467|PMID:27884173|PMID:28492532 11973649 KLLN killin, p53 regulated DNA replication inhibitor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:5013846 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12844284|PMID:16773562|PMID:17427195|PMID:18794879|PMID:20862607|PMID:21194675|PMID:21417916|PMID:21532617|PMID:21633361|PMID:21956414|PMID:22171747|PMID:23161105|PMID:2338203|PMID:23475934|PMID:24033266|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26800850|PMID:27535533|PMID:27878467|PMID:27884173|PMID:28492532|PMID:30311380 11973649 KLLN killin, p53 regulated DNA replication inhibitor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:5013846 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12844284|PMID:16773562|PMID:17427195|PMID:18794879|PMID:20862607|PMID:21194675|PMID:21417916|PMID:21532617|PMID:21633361|PMID:21956414|PMID:22171747|PMID:23161105|PMID:2338203|PMID:23475934|PMID:24033266|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26800850|PMID:27535533|PMID:27854218|PMID:27878467|PMID:27884173|PMID:28492532|PMID:30311380 11973654 POLR1C RNA polymerase I and III subunit C gene DOID:0050427 xeroderma pigmentosum ISO RGD:1320170 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:10398605|PMID:10871396|PMID:11121129|PMID:17344931|PMID:18368133|PMID:18703314|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30414346|PMID:33558524 11973654 POLR1C RNA polymerase I and III subunit C gene DOID:0050444 infantile Refsum disease ISO RGD:1320170 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11973654 POLR1C RNA polymerase I and III subunit C gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1320170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:28492532 11973654 POLR1C RNA polymerase I and III subunit C gene DOID:0060792 hypomyelinating leukodystrophy 11 ISO RGD:1320170 D RGD:7240710 20180130 OMIM 11973654 POLR1C RNA polymerase I and III subunit C gene DOID:0060792 hypomyelinating leukodystrophy 11 ISO RGD:1320170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 11 PMID:11013442|PMID:21131976|PMID:22563501|PMID:22855961|PMID:25741868|PMID:26151409|PMID:26467025|PMID:28327206|PMID:28492532|PMID:29567474|PMID:30311386|PMID:30505682|PMID:30957429|PMID:32042905|PMID:33804237|PMID:610060 11973654 POLR1C RNA polymerase I and III subunit C gene DOID:0080205 CAKUT ISO RGD:1320170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:27657687 11973654 POLR1C RNA polymerase I and III subunit C gene DOID:0080791 Treacher Collins syndrome 3 ISO RGD:1320170 D RGD:7240710 20180130 OMIM 11973654 POLR1C RNA polymerase I and III subunit C gene DOID:0080791 Treacher Collins syndrome 3 ISO RGD:1320170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: POLR1C-Related Disorders | ClinVar Annotator: match by term: Treacher Collins Syndrome, Recessive | ClinVar Annotator: match by term: Treacher Collins syndrome 3 PMID:11013442|PMID:17576681|PMID:21131976|PMID:22563501|PMID:22855961|PMID:24942156|PMID:25741868|PMID:26151409|PMID:26467025|PMID:28327206|PMID:28492532|PMID:29567474|PMID:30311386|PMID:30957429|PMID:32042905|PMID:33804237|PMID:610060|PMID:9536098 11973654 POLR1C RNA polymerase I and III subunit C gene DOID:0110601 primary ciliary dyskinesia 12 ISO RGD:1320170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 12 PMID:19200523|PMID:23993197|PMID:24033266|PMID:25741868|PMID:28492532 11973654 POLR1C RNA polymerase I and III subunit C gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1320170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Iron accumulation in brain PMID:32581362 11973654 POLR1C RNA polymerase I and III subunit C gene DOID:0110847 xeroderma pigmentosum variant type ISO RGD:1320170 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum variant type PMID:10385124|PMID:10398605|PMID:10871396|PMID:11121129|PMID:17344931|PMID:18368133|PMID:18703314|PMID:24033266|PMID:24130121|PMID:25741868|PMID:26884178|PMID:27004399|PMID:28202063|PMID:28492532|PMID:30414346|PMID:33558524|PMID:35111200|PMID:36308448 11973654 POLR1C RNA polymerase I and III subunit C gene DOID:0111479 combined oxidative phosphorylation deficiency 8 ISO RGD:1320170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, HYPERTROPHIC MITOCHONDRIAL, FATAL INFANTILE | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8 PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27734837|PMID:27749956|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:29749055|PMID:29971983|PMID:30054184|PMID:30285085|PMID:30819764|PMID:31099476|PMID:31106991|PMID:31885218|PMID:35305867 11973654 POLR1C RNA polymerase I and III subunit C gene DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity ISO RGD:1320170 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations PMID:35325049 11973654 POLR1C RNA polymerase I and III subunit C gene DOID:1098 fetal erythroblastosis ISO RGD:1320170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal Erythroblastosis 11973654 POLR1C RNA polymerase I and III subunit C gene DOID:11713 diabetic angiopathy ISO RGD:1320170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 1 PMID:11978667 11973654 POLR1C RNA polymerase I and III subunit C gene DOID:1612 breast cancer ISO RGD:1320170 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532|PMID:30414346|PMID:33558524 11973654 POLR1C RNA polymerase I and III subunit C gene DOID:1936 atherosclerosis ISO RGD:1320170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atherosclerosis, susceptibility to PMID:15732116|PMID:15937083|PMID:18413368 11973654 POLR1C RNA polymerase I and III subunit C gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1320170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 11973654 POLR1C RNA polymerase I and III subunit C gene DOID:630 genetic disease ISO RGD:1320170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11013442|PMID:17576681|PMID:21131976|PMID:21549344|PMID:22277967|PMID:22855961|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:26151409|PMID:27734837|PMID:27749956|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:29567474|PMID:29749055|PMID:29971983|PMID:30285085|PMID:30957429|PMID:31099476|PMID:31885218|PMID:32042905|PMID:32080176|PMID:32319008|PMID:32581362|PMID:33804237|PMID:35305867|PMID:610060|PMID:9536098 11973654 POLR1C RNA polymerase I and III subunit C gene DOID:9000096 Lung Agenesis ISO RGD:1320170 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pulmonary hypoplasia PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:29971983|PMID:30285085|PMID:30819764|PMID:31106991 11973654 POLR1C RNA polymerase I and III subunit C gene DOID:9004538 Hearing Loss ISO RGD:1320170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:22855961|PMID:25741868|PMID:26151409|PMID:28492532|PMID:30311386|PMID:32042905|PMID:33804237|PMID:610060 11973654 POLR1C RNA polymerase I and III subunit C gene DOID:9004768 Carey-Fineman-Ziter Syndrome 2 ISO RGD:1320170 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2 PMID:35642635 11973654 POLR1C RNA polymerase I and III subunit C gene DOID:9005019 JABERI-ELAHI SYNDROME ISO RGD:1320170 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Jaberi-Elahi syndrome PMID:25741868|PMID:29449720|PMID:30790272|PMID:32860008 11973654 POLR1C RNA polymerase I and III subunit C gene DOID:9006658 Progressive Leukoencephalopathy, with Ovarian Failure ISO RGD:1320170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy, progressive, with ovarian failure PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27734837|PMID:27749956|PMID:28492532|PMID:29440775|PMID:29749055|PMID:29971983|PMID:30285085|PMID:30819764|PMID:31099476|PMID:31885218|PMID:33972171|PMID:35084689|PMID:35305867 11973654 POLR1C RNA polymerase I and III subunit C gene DOID:9008003 Mandibulofacial Dysostosis ISO RGD:1320170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21131976 11973654 POLR1C RNA polymerase I and III subunit C gene DOID:9008469 Hypomyelinating Leukodystrophy 26 ISO RGD:1320170 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 26, with chondrodysplasia PMID:35325049 11973654 POLR1C RNA polymerase I and III subunit C gene DOID:905 Zellweger syndrome ISO RGD:1320170 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11973654 POLR1C RNA polymerase I and III subunit C gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320170 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:19200523|PMID:22384920|PMID:23993197|PMID:24033266|PMID:24307375|PMID:25741868|PMID:25789548|PMID:28492532|PMID:30067075 11973667 LOC100984808 olfactory receptor 10K2 gene DOID:1540 parathyroid carcinoma ISO RGD:1349498 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11973667 LOC100984808 olfactory receptor 10K2 gene DOID:630 genetic disease ISO RGD:1349498 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11973667 LOC100984808 olfactory receptor 10K2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349498 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11973670 PAX4 paired box 4 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:1347682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:11723072|PMID:15509590|PMID:15596543|PMID:16423628|PMID:18414213|PMID:21263211|PMID:25741868|PMID:25951767|PMID:27334367|PMID:28492532|PMID:31264968|PMID:32801813|PMID:33031055 11973670 PAX4 paired box 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1347682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:11723072|PMID:15596543|PMID:16423628|PMID:18414213|PMID:21263211|PMID:25741868|PMID:25951767|PMID:27334367|PMID:28492532|PMID:31264968|PMID:32801813|PMID:33031055 11973670 PAX4 paired box 4 gene DOID:0111107 maturity-onset diabetes of the young type 9 ISO RGD:1347682 D RGD:7240710 20230517 OMIM 11973670 PAX4 paired box 4 gene DOID:0111107 maturity-onset diabetes of the young type 9 ISO RGD:1347682 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 9 PMID:15509590|PMID:17426099|PMID:25741868|PMID:28492532 11973670 PAX4 paired box 4 gene DOID:1837 diabetic ketoacidosis ISO RGD:1347682 D RGD:7240710 20230517 OMIM 11973670 PAX4 paired box 4 gene DOID:1837 diabetic ketoacidosis ISO RGD:1347682 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, ketosis-prone | ClinVar Annotator: match by term: Diabetes mellitus, ketosis-prone, susceptibility to PMID:15509590|PMID:17576681|PMID:18414213|PMID:25741868|PMID:28492532|PMID:9536098 11973670 PAX4 paired box 4 gene DOID:1909 melanoma ISO RGD:1347682 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18949370 11973670 PAX4 paired box 4 gene DOID:4195 hyperglycemia ISO RGD:1347682 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyperglycemia PMID:15509590|PMID:25741868|PMID:28492532 11973670 PAX4 paired box 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11973670 PAX4 paired box 4 gene DOID:630 genetic disease ISO RGD:1347682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11973670 PAX4 paired box 4 gene DOID:9351 diabetes mellitus ISO RGD:1347682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:15509590|PMID:18414213|PMID:25741868|PMID:28492532 11973670 PAX4 paired box 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347682 D RGD:7240710 20230517 OMIM 11973670 PAX4 paired box 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:11723072|PMID:15596543|PMID:16423628|PMID:18414213|PMID:21263211|PMID:25741868|PMID:25951767|PMID:27334367|PMID:28492532|PMID:31264968|PMID:32801813|PMID:33031055 11973670 PAX4 paired box 4 gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:1347682 D RGD:9068941 20200609 RGD DNA:mutation: :p.R121W (human) PMID:12604352|REF_RGD_ID:2311635 11973670 PAX4 paired box 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1347682 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11973670 PAX4 paired box 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1347682 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R133W (human) PMID:15509590|REF_RGD_ID:2311634 11973670 PAX4 paired box 4 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1347682 D RGD:9068941 20200609 RGD PMID:15834548|REF_RGD_ID:2311633 11973691 TMLHE trimethyllysine hydroxylase, epsilon gene DOID:0050454 periventricular nodular heterotopia ISO RGD:736195 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11973691 TMLHE trimethyllysine hydroxylase, epsilon gene DOID:0050476 Barth syndrome ISO RGD:736195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11973691 TMLHE trimethyllysine hydroxylase, epsilon gene DOID:0050800 creatine transporter deficiency ISO RGD:736195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11973691 TMLHE trimethyllysine hydroxylase, epsilon gene DOID:0070338 cerebellar hypoplasia ISO RGD:736195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 11973691 TMLHE trimethyllysine hydroxylase, epsilon gene DOID:0112003 immunodeficiency 33 ISO RGD:736195 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11973691 TMLHE trimethyllysine hydroxylase, epsilon gene DOID:10588 adrenoleukodystrophy ISO RGD:736195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11973691 TMLHE trimethyllysine hydroxylase, epsilon gene DOID:1059 intellectual disability ISO RGD:736195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23092983|PMID:25741868 11973691 TMLHE trimethyllysine hydroxylase, epsilon gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:736195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11973691 TMLHE trimethyllysine hydroxylase, epsilon gene DOID:12849 autistic disorder ISO RGD:736195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Epsilon-trimethyllysine hydroxylase deficiency PMID:21681106|PMID:21865298|PMID:22566635|PMID:23092983|PMID:25741868|PMID:30208311 11973691 TMLHE trimethyllysine hydroxylase, epsilon gene DOID:12849 autistic disorder susceptibility ISO RGD:736195 D RGD:7240710 20190502 OMIM 11973691 TMLHE trimethyllysine hydroxylase, epsilon gene DOID:5419 schizophrenia ISO RGD:736195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11973691 TMLHE trimethyllysine hydroxylase, epsilon gene DOID:607 paraplegia ISO RGD:736195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11973691 TMLHE trimethyllysine hydroxylase, epsilon gene DOID:630 genetic disease ISO RGD:736195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11973691 TMLHE trimethyllysine hydroxylase, epsilon gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:736195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:31474318 11973691 TMLHE trimethyllysine hydroxylase, epsilon gene DOID:9002720 Splenomegaly ISO RGD:736195 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11973708 HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:1321513 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 11973708 HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:0050711 aceruloplasminemia ISO RGD:1321513 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deficiency of ferroxidase PMID:18414213|PMID:24033266|PMID:28492532 11973708 HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1321513 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:11590544|PMID:28492532|PMID:31898847|PMID:32581362 11973708 HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:0060541 Hermansky-Pudlak syndrome 3 ISO RGD:1321513 D RGD:7240710 20180130 OMIM 11973708 HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:0060541 Hermansky-Pudlak syndrome 3 ISO RGD:1321513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3 PMID:11455388|PMID:11590544|PMID:16199547|PMID:17576681|PMID:17933573|PMID:18414213|PMID:24033266|PMID:25525159|PMID:25741868|PMID:27593200|PMID:28492532|PMID:30387913|PMID:30990103|PMID:31141302|PMID:31898847|PMID:9536098 11973708 HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1321513 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 11973708 HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:10283 prostate cancer ISO RGD:1321513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11973708 HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:2213 hemorrhagic disease ISO RGD:1321513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 11973708 HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:2223 platelet storage pool deficiency ISO RGD:1321514 D RGD:9068941 20220825 MouseDO OMIM:185050 11973708 HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1321513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:11590544|PMID:16199547|PMID:17933573|PMID:18414213|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26575419|PMID:27593200|PMID:28492532|PMID:30387913|PMID:30990103|PMID:31064749|PMID:31141302|PMID:31898847|PMID:32581362|PMID:35886065 11973708 HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:630 genetic disease ISO RGD:1321513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11973734 CACNG3 calcium voltage-gated channel auxiliary subunit gamma 3 gene DOID:1825 childhood absence epilepsy ISO RGD:736548 D RGD:9068941 20200609 RGD PMID:11904235|REF_RGD_ID:728397 11973734 CACNG3 calcium voltage-gated channel auxiliary subunit gamma 3 gene DOID:4448 macular degeneration susceptibility ISO RGD:736548 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:21169531|REF_RGD_ID:13524556 11973734 CACNG3 calcium voltage-gated channel auxiliary subunit gamma 3 gene DOID:630 genetic disease ISO RGD:736548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11973775 SFRP1 secreted frizzled related protein 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:735754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18716850 11973775 SFRP1 secreted frizzled related protein 1 gene DOID:114 heart disease ISO RGD:735754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30377735 11973775 SFRP1 secreted frizzled related protein 1 gene DOID:127 leiomyoma ISO RGD:735754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15972578 11973775 SFRP1 secreted frizzled related protein 1 gene DOID:127 leiomyoma ISO RGD:735754 D RGD:9068941 20200609 RGD Uterine leiomyoma; mRNA:increased expression:leiomyoma smooth muscle cells (SMCs):vs matched myometrial SMCs PMID:15972578|REF_RGD_ID:2298808 11973775 SFRP1 secreted frizzled related protein 1 gene DOID:4450 renal cell carcinoma ISO RGD:735754 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:20420713|REF_RGD_ID:4107084 11973775 SFRP1 secreted frizzled related protein 1 gene DOID:630 genetic disease ISO RGD:735754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11973775 SFRP1 secreted frizzled related protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11973775 SFRP1 secreted frizzled related protein 1 gene DOID:8719 in situ carcinoma ISO RGD:735754 D RGD:9068941 20200609 RGD testicular CIS; mRNA:increased expression:tumor PMID:15123780|REF_RGD_ID:2301712 11973775 SFRP1 secreted frizzled related protein 1 gene DOID:9000784 Fibrosis ISO RGD:735754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30377735 11973775 SFRP1 secreted frizzled related protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:735754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17923031|PMID:18716850 11973775 SFRP1 secreted frizzled related protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18283316 11973775 SFRP1 secreted frizzled related protein 1 gene DOID:9775 diastolic heart failure ISO RGD:735754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 11973832 MIS18A MIS18 kinetochore protein A gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1321877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11973832 MIS18A MIS18 kinetochore protein A gene DOID:0060898 Parkinson's disease 20 ISO RGD:1321877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 11973832 MIS18A MIS18 kinetochore protein A gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1321877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11973832 MIS18A MIS18 kinetochore protein A gene DOID:630 genetic disease ISO RGD:1321877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11973832 MIS18A MIS18 kinetochore protein A gene DOID:9005698 ZTTK Syndrome ISO RGD:1321877 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 11973841 IRF2 interferon regulatory factor 2 gene DOID:0080600 COVID-19 ISO RGD:1312641 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11973841 IRF2 interferon regulatory factor 2 gene DOID:630 genetic disease ISO RGD:1312641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11973841 IRF2 interferon regulatory factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1312641 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561517 11973859 PAX9 paired box 9 gene DOID:0050591 tooth agenesis ISO RGD:1352334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligodontia | ClinVar Annotator: match by term: Selective tooth agenesis | ClinVar Annotator: match by term: Tooth agenesis PMID:25741868|PMID:29969831 11973859 PAX9 paired box 9 gene DOID:12859 choreatic disease ISO RGD:1352334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign hereditary chorea PMID:11971878 11973859 PAX9 paired box 9 gene DOID:13714 anodontia ISO RGD:1352334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Partial congenital absence of teeth PMID:11827258|PMID:12605438|PMID:14571272|PMID:14607846|PMID:16236760|PMID:16479262|PMID:19429910|PMID:22581971|PMID:25741868|PMID:28166811|PMID:28492532|PMID:28910570 11973859 PAX9 paired box 9 gene DOID:630 genetic disease ISO RGD:1352334 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28166811|PMID:28492532 11973859 PAX9 paired box 9 gene DOID:674 cleft palate ISO RGD:733158 D RGD:9068941 20200609 RGD PMID:17097601|REF_RGD_ID:12801424 11973859 PAX9 paired box 9 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1352334 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11973859 PAX9 paired box 9 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1352334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11973859 PAX9 paired box 9 gene DOID:9007839 Selective Tooth Agenesis 3 ISO RGD:1352334 D RGD:7240710 20180130 OMIM 11973859 PAX9 paired box 9 gene DOID:9007839 Selective Tooth Agenesis 3 ISO RGD:1352334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 3 PMID:10615120|PMID:11781684|PMID:11827258|PMID:11941488|PMID:12605438|PMID:12786960|PMID:14571272|PMID:14607846|PMID:14689302|PMID:15615874|PMID:16191360|PMID:16479262|PMID:17910065|PMID:18414213|PMID:19429910|PMID:25741868|PMID:28492532|PMID:29023497 11973868 CDK17 cyclin dependent kinase 17 gene DOID:2377 multiple sclerosis ISO RGD:1343326 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 11973868 CDK17 cyclin dependent kinase 17 gene DOID:630 genetic disease ISO RGD:1343326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11973892 GSKIP GSK3B interacting protein gene DOID:0070004 myeloid neoplasm ISO RGD:1318256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26280900 11973892 GSKIP GSK3B interacting protein gene DOID:2224 essential thrombocythemia ISO RGD:1318256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 11973892 GSKIP GSK3B interacting protein gene DOID:4971 myelofibrosis ISO RGD:1318256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis 11973892 GSKIP GSK3B interacting protein gene DOID:630 genetic disease ISO RGD:1318256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11973892 GSKIP GSK3B interacting protein gene DOID:8692 myeloid leukemia ISO RGD:1318256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26280900 11973892 GSKIP GSK3B interacting protein gene DOID:9119 acute myeloid leukemia ISO RGD:1318256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 11973899 SNX22 sorting nexin 22 gene DOID:0110349 osteogenesis imperfecta type 9 ISO RGD:1312835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 9 PMID:19781681|PMID:25741868|PMID:28492532|PMID:29620724 11973899 SNX22 sorting nexin 22 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1312835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11973899 SNX22 sorting nexin 22 gene DOID:12347 osteogenesis imperfecta ISO RGD:1312835 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:19781681|PMID:25741868|PMID:28492532 11973899 SNX22 sorting nexin 22 gene DOID:2717 Bloom syndrome ISO RGD:1312835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11973899 SNX22 sorting nexin 22 gene DOID:630 genetic disease ISO RGD:1312835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11973899 SNX22 sorting nexin 22 gene DOID:9256 colorectal cancer ISO RGD:1312835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11973935 PABPC5 poly(A) binding protein cytoplasmic 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11973935 PABPC5 poly(A) binding protein cytoplasmic 5 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1348533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:25741868 11973935 PABPC5 poly(A) binding protein cytoplasmic 5 gene DOID:12849 autistic disorder ISO RGD:1348533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11973935 PABPC5 poly(A) binding protein cytoplasmic 5 gene DOID:630 genetic disease ISO RGD:1348533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11973944 CSRNP3 cysteine and serine rich nuclear protein 3 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11973944 CSRNP3 cysteine and serine rich nuclear protein 3 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 11973944 CSRNP3 cysteine and serine rich nuclear protein 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11973944 CSRNP3 cysteine and serine rich nuclear protein 3 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11973944 CSRNP3 cysteine and serine rich nuclear protein 3 gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11973944 CSRNP3 cysteine and serine rich nuclear protein 3 gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11973944 CSRNP3 cysteine and serine rich nuclear protein 3 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 11973944 CSRNP3 cysteine and serine rich nuclear protein 3 gene DOID:0111112 nephronophthisis 1 ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 11973944 CSRNP3 cysteine and serine rich nuclear protein 3 gene DOID:0111295 generalized epilepsy with febrile seizures plus 7 ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11973944 CSRNP3 cysteine and serine rich nuclear protein 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11973944 CSRNP3 cysteine and serine rich nuclear protein 3 gene DOID:12712 nephronophthisis ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 11973944 CSRNP3 cysteine and serine rich nuclear protein 3 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial neonatal seizures PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 11973944 CSRNP3 cysteine and serine rich nuclear protein 3 gene DOID:1826 epilepsy ISO RGD:1605039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 11973944 CSRNP3 cysteine and serine rich nuclear protein 3 gene DOID:303 substance-related disorder ISO RGD:1605039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11973944 CSRNP3 cysteine and serine rich nuclear protein 3 gene DOID:630 genetic disease ISO RGD:1605039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11973944 CSRNP3 cysteine and serine rich nuclear protein 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:1605039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11973963 SSR1 signal sequence receptor subunit 1 gene DOID:630 genetic disease ISO RGD:1322158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11973977 NDUFA5 NADH:ubiquinone oxidoreductase subunit A5 gene DOID:10652 Alzheimer's disease ISO RGD:731254 D RGD:9068941 20200609 RGD PMID:19760337|REF_RGD_ID:13801191 11973977 NDUFA5 NADH:ubiquinone oxidoreductase subunit A5 gene DOID:10652 Alzheimer's disease ISO RGD:735249 D RGD:9068941 20200609 RGD PMID:19760337|REF_RGD_ID:13801191 11973977 NDUFA5 NADH:ubiquinone oxidoreductase subunit A5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11973977 NDUFA5 NADH:ubiquinone oxidoreductase subunit A5 gene DOID:9004001 Facial Nerve Injuries ISO RGD:3155 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:8875451|REF_RGD_ID:2302319 11973994 IZUMO3 IZUMO family member 3 gene DOID:5419 schizophrenia ISO RGD:1351856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11974004 L2HGDH L-2-hydroxyglutarate dehydrogenase gene DOID:0050573 2-hydroxyglutaric aciduria ISO RGD:12225670 D RGD:9068941 20210604 OMIA L-2-hydroxyglutaricacidemia PMID:11708646|PMID:12892272|PMID:12892307|PMID:15715007|PMID:17475916|PMID:18295785|PMID:20852250|PMID:22834903|PMID:22843824|PMID:24830757|PMID:27729589 11974004 L2HGDH L-2-hydroxyglutarate dehydrogenase gene DOID:0050573 2-hydroxyglutaric aciduria ISO RGD:1314761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15385440|PMID:15548604|PMID:21937992 11974004 L2HGDH L-2-hydroxyglutarate dehydrogenase gene DOID:0050573 2-hydroxyglutaric aciduria ISO RGD:1314761 D RGD:9068941 20200609 RGD DNA:mutations:exons:c.1015delA,c.1319C>A, c.169G>A(human) PMID:24894778|REF_RGD_ID:13506818 11974004 L2HGDH L-2-hydroxyglutarate dehydrogenase gene DOID:0050573 2-hydroxyglutaric aciduria ISO RGD:1314761 D RGD:9068941 20200609 RGD DNA:mutations:exons:c.169G>A,c.542G>T(human) PMID:26208971|REF_RGD_ID:13506814 11974004 L2HGDH L-2-hydroxyglutarate dehydrogenase gene DOID:0050573 2-hydroxyglutaric aciduria ISO RGD:1550752 D RGD:9068941 20200609 RGD PMID:25763823|REF_RGD_ID:13506815 11974004 L2HGDH L-2-hydroxyglutarate dehydrogenase gene DOID:0050574 L-2-hydroxyglutaric aciduria ISO RGD:1314761 D RGD:7240710 20180307 OMIM 11974004 L2HGDH L-2-hydroxyglutarate dehydrogenase gene DOID:0050574 L-2-hydroxyglutaric aciduria ISO RGD:1314761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria PMID:15385440|PMID:15548604|PMID:16134148|PMID:16199547|PMID:17576681|PMID:18362286|PMID:18414213|PMID:18415700|PMID:18780161|PMID:19863265|PMID:19911013|PMID:20052767|PMID:21937992|PMID:22030381|PMID:24573090|PMID:25033591|PMID:25741868|PMID:26467025|PMID:26829733|PMID:28492532|PMID:29458334|PMID:32626804|PMID:9536098 11974004 L2HGDH L-2-hydroxyglutarate dehydrogenase gene DOID:0050753 cerebellar ataxia ISO RGD:1314761 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.241A4G(p.K81E)(human) PMID:24573090|REF_RGD_ID:13506824 11974004 L2HGDH L-2-hydroxyglutarate dehydrogenase gene DOID:0060587 Noonan syndrome 9 ISO RGD:1314761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Noonan syndrome 9 PMID:28492532 11974004 L2HGDH L-2-hydroxyglutarate dehydrogenase gene DOID:0111040 glycogen storage disease IXd ISO RGD:1314761 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXd PMID:16134148|PMID:20052767|PMID:25741868|PMID:28492532 11974004 L2HGDH L-2-hydroxyglutarate dehydrogenase gene DOID:1059 intellectual disability ISO RGD:1314761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11974004 L2HGDH L-2-hydroxyglutarate dehydrogenase gene DOID:11832 visual epilepsy ISO RGD:1314761 D RGD:9068941 20200609 RGD DNA:mutations:exons:c.1015delA,c.1319C>A, c.169G>A(human) PMID:24894778|REF_RGD_ID:13506818 11974004 L2HGDH L-2-hydroxyglutarate dehydrogenase gene DOID:1826 epilepsy ISO RGD:1314761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15385440 11974004 L2HGDH L-2-hydroxyglutarate dehydrogenase gene DOID:2476 hereditary spastic paraplegia ISO RGD:1314761 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.241A4G(p.K81E)(human) PMID:24573090|REF_RGD_ID:13506824 11974004 L2HGDH L-2-hydroxyglutarate dehydrogenase gene DOID:630 genetic disease ISO RGD:1314761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 11974004 L2HGDH L-2-hydroxyglutarate dehydrogenase gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1314761 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11974004 L2HGDH L-2-hydroxyglutarate dehydrogenase gene DOID:9006534 Nervous System Malformations ISO RGD:1314761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15385440 11974023 COL8A1 collagen type VIII alpha 1 chain gene DOID:630 genetic disease ISO RGD:1319668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974023 COL8A1 collagen type VIII alpha 1 chain gene DOID:9005835 Congenital Abnormalities ISO RGD:1319668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19035365 11974023 COL8A1 collagen type VIII alpha 1 chain gene DOID:9775 diastolic heart failure ISO RGD:1319668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 11974038 CRYBB1 crystallin beta B1 gene DOID:0110270 cataract 17 multiple types ISO RGD:731502 D RGD:7240710 20180130 OMIM 11974038 CRYBB1 crystallin beta B1 gene DOID:0110270 cataract 17 multiple types ISO RGD:731502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 17 multiple types PMID:12360425|PMID:16110300|PMID:17460281|PMID:17576681|PMID:20565250|PMID:21972112|PMID:25741868|PMID:28492532|PMID:32854469|PMID:33223529|PMID:9536098 11974038 CRYBB1 crystallin beta B1 gene DOID:0110271 cataract 23 ISO RGD:731502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 11974038 CRYBB1 crystallin beta B1 gene DOID:5419 schizophrenia ISO RGD:731502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11974038 CRYBB1 crystallin beta B1 gene DOID:630 genetic disease ISO RGD:731502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11974038 CRYBB1 crystallin beta B1 gene DOID:83 cataract ISO RGD:731502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:26694549|PMID:28272538 11974053 LOC100982295 olfactory receptor 6F1 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1352611 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11974053 LOC100982295 olfactory receptor 6F1 gene DOID:1540 parathyroid carcinoma ISO RGD:1352611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11974053 LOC100982295 olfactory receptor 6F1 gene DOID:630 genetic disease ISO RGD:1352611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974053 LOC100982295 olfactory receptor 6F1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11974053 LOC100982295 olfactory receptor 6F1 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1352611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome PMID:28492532 11974053 LOC100982295 olfactory receptor 6F1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11974062 FAM53B family with sequence similarity 53 member B gene DOID:630 genetic disease ISO RGD:1350576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974076 MAP6 microtubule associated protein 6 gene DOID:1059 intellectual disability ISO RGD:1606581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11974076 MAP6 microtubule associated protein 6 gene DOID:5419 schizophrenia ISO RGD:62096 D RGD:9068941 20220825 MouseDO OMIM:181500 11974076 MAP6 microtubule associated protein 6 gene DOID:630 genetic disease ISO RGD:1606581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974076 MAP6 microtubule associated protein 6 gene DOID:9002362 Hyperkinesis ISO RGD:1606581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16046005 11974084 ETF1 eukaryotic translation termination factor 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1313906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11974084 ETF1 eukaryotic translation termination factor 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313906 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11974084 ETF1 eukaryotic translation termination factor 1 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1313906 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 11974084 ETF1 eukaryotic translation termination factor 1 gene DOID:630 genetic disease ISO RGD:1313906 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974084 ETF1 eukaryotic translation termination factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11974084 ETF1 eukaryotic translation termination factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313906 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11974106 FIBIN fin bud initiation factor homolog gene DOID:1059 intellectual disability ISO RGD:1606090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11974106 FIBIN fin bud initiation factor homolog gene DOID:630 genetic disease ISO RGD:1606090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974106 FIBIN fin bud initiation factor homolog gene DOID:9775 diastolic heart failure ISO RGD:1606090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 11974111 WDHD1 WD repeat and HMG-box DNA binding protein 1 gene DOID:4947 cholangiocarcinoma ameliorates ISO RGD:1320961 D RGD:9068941 20230216 RGD PMID:30314946|REF_RGD_ID:156420141 11974111 WDHD1 WD repeat and HMG-box DNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1320961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974141 GPALPP1 GPALPP motifs containing 1 gene DOID:630 genetic disease ISO RGD:1316340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974153 DMP1 dentin matrix acidic phosphoprotein 1 gene DOID:0050949 autosomal recessive hypophosphatemic rickets ISO RGD:736576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive 11974153 DMP1 dentin matrix acidic phosphoprotein 1 gene DOID:630 genetic disease ISO RGD:736576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11974153 DMP1 dentin matrix acidic phosphoprotein 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 11974153 DMP1 dentin matrix acidic phosphoprotein 1 gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:736576 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets PMID:24033266|PMID:25741868|PMID:35738466 11974153 DMP1 dentin matrix acidic phosphoprotein 1 gene DOID:9001514 Hypophosphatemic Rickets, Autosomal Recessive, 1 ISO RGD:736576 D RGD:7240710 20180130 OMIM 11974153 DMP1 dentin matrix acidic phosphoprotein 1 gene DOID:9001514 Hypophosphatemic Rickets, Autosomal Recessive, 1 ISO RGD:736576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 1 PMID:16199547|PMID:16294270|PMID:17033621|PMID:17033625|PMID:17576681|PMID:19007919|PMID:21050253|PMID:25741868|PMID:28492532|PMID:9536098 11974166 CCL23 C-C motif chemokine ligand 23 gene DOID:0060496 respiratory allergy ISO RGD:1321540 D RGD:9068941 20210521 CTD CTD Direct Evidence: marker/mechanism PMID:17085522 11974166 CCL23 C-C motif chemokine ligand 23 gene DOID:1205 allergic disease ISO RGD:1321540 D RGD:9068941 20210521 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11974166 CCL23 C-C motif chemokine ligand 23 gene DOID:1790 malignant mesothelioma ISO RGD:1348813 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 11974166 CCL23 C-C motif chemokine ligand 23 gene DOID:2316 brain ischemia ISO RGD:1321540 D RGD:9068941 20210521 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 11974166 CCL23 C-C motif chemokine ligand 23 gene DOID:552 pneumonia ISO RGD:1321540 D RGD:9068941 20210521 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11974166 CCL23 C-C motif chemokine ligand 23 gene DOID:630 genetic disease ISO RGD:1348813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974166 CCL23 C-C motif chemokine ligand 23 gene DOID:684 hepatocellular carcinoma ISO RGD:1321540 D RGD:9068941 20210521 RGD mRNA:increased expression:liver (mouse) PMID:26569409|REF_RGD_ID:11344640 11974176 HELZ helicase with zinc finger gene DOID:630 genetic disease ISO RGD:1316013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974219 UPK1B uroplakin 1B gene DOID:630 genetic disease ISO RGD:1317213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974219 UPK1B uroplakin 1B gene DOID:9008939 Breast Neoplasms ISO RGD:1317213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25330770 11974234 TSPYL4 TSPY like 4 gene DOID:0060163 body dysmorphic disorder ISO RGD:1315389 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 11974234 TSPYL4 TSPY like 4 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1315389 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 11974234 TSPYL4 TSPY like 4 gene DOID:1909 melanoma ISO RGD:1315389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11974234 TSPYL4 TSPY like 4 gene DOID:630 genetic disease ISO RGD:1315389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974240 BPIFB1 BPI fold containing family B member 1 gene DOID:630 genetic disease ISO RGD:1343435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974260 YPEL4 yippee like 4 gene DOID:0080600 COVID-19 ISO RGD:1345149 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11974260 YPEL4 yippee like 4 gene DOID:1059 intellectual disability ISO RGD:1345149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11974260 YPEL4 yippee like 4 gene DOID:630 genetic disease ISO RGD:1345149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974276 NOP10 NOP10 ribonucleoprotein gene DOID:0070015 autosomal recessive dyskeratosis congenita 1 ISO RGD:1353461 D RGD:7240710 20180418 OMIM 11974276 NOP10 NOP10 ribonucleoprotein gene DOID:0070015 autosomal recessive dyskeratosis congenita 1 ISO RGD:1353461 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 PMID:17507419|PMID:20301779|PMID:24033266|PMID:25741868|PMID:28492532 11974276 NOP10 NOP10 ribonucleoprotein gene DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy ISO RGD:1353461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy 11974276 NOP10 NOP10 ribonucleoprotein gene DOID:0110317 hypertrophic cardiomyopathy 11 ISO RGD:1353461 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 PMID:18458017|PMID:27125413|PMID:28492532 11974276 NOP10 NOP10 ribonucleoprotein gene DOID:2717 Bloom syndrome ISO RGD:1353461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11974276 NOP10 NOP10 ribonucleoprotein gene DOID:2729 dyskeratosis congenita ISO RGD:1353461 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:24033266|PMID:25741868|PMID:28492532 11974276 NOP10 NOP10 ribonucleoprotein gene DOID:9004373 Autosomal Recessive Dyskeratosis Congenita ISO RGD:1353461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive 11974276 NOP10 NOP10 ribonucleoprotein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353461 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 11974276 NOP10 NOP10 ribonucleoprotein gene DOID:9256 colorectal cancer ISO RGD:1353461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11974282 LUZP1 leucine zipper protein 1 gene DOID:630 genetic disease ISO RGD:736317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974282 LUZP1 leucine zipper protein 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:736317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11974380 ARHGEF11 Rho guanine nucleotide exchange factor 11 gene DOID:1540 parathyroid carcinoma ISO RGD:734056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11974380 ARHGEF11 Rho guanine nucleotide exchange factor 11 gene DOID:630 genetic disease ISO RGD:734056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974380 ARHGEF11 Rho guanine nucleotide exchange factor 11 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11974434 DLEC1 DLEC1 cilia and flagella associated protein gene DOID:0050451 Brugada syndrome ISO RGD:1604836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 11974434 DLEC1 DLEC1 cilia and flagella associated protein gene DOID:5041 esophageal cancer ISO RGD:1604836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophagus cancer PMID:25741868 11974434 DLEC1 DLEC1 cilia and flagella associated protein gene DOID:630 genetic disease ISO RGD:1604836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974434 DLEC1 DLEC1 cilia and flagella associated protein gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1604836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 11974434 DLEC1 DLEC1 cilia and flagella associated protein gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1604836 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:27168825|REF_RGD_ID:11252164 11974481 NIPA2 NIPA magnesium transporter 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1348761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21187176|PMID:21844811|PMID:23044707|PMID:23495136|PMID:25255310|PMID:25741868|PMID:27569545 11974481 NIPA2 NIPA magnesium transporter 2 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1348761 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome PMID:31690835 11974481 NIPA2 NIPA magnesium transporter 2 gene DOID:0110811 hereditary spastic paraplegia 6 ISO RGD:1348761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 PMID:17268193|PMID:23032108|PMID:25689425|PMID:28492532 11974481 NIPA2 NIPA magnesium transporter 2 gene DOID:1059 intellectual disability ISO RGD:1348761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11974481 NIPA2 NIPA magnesium transporter 2 gene DOID:12849 autistic disorder ISO RGD:1348761 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 11974481 NIPA2 NIPA magnesium transporter 2 gene DOID:1932 Angelman syndrome ISO RGD:1348761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome 11974481 NIPA2 NIPA magnesium transporter 2 gene DOID:5419 schizophrenia ISO RGD:1348761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11974481 NIPA2 NIPA magnesium transporter 2 gene DOID:630 genetic disease ISO RGD:1348761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974481 NIPA2 NIPA magnesium transporter 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 11974514 RRAGD Ras related GTP binding D gene DOID:630 genetic disease ISO RGD:1320660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974514 RRAGD Ras related GTP binding D gene DOID:9005972 Renal Hypomagnesemia 7 with or without Dilated Cardiomyopathy ISO RGD:1320660 D RGD:7240710 20221214 OMIM 11974514 RRAGD Ras related GTP binding D gene DOID:9005972 Renal Hypomagnesemia 7 with or without Dilated Cardiomyopathy ISO RGD:1320660 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HYPOMAGNESEMIA 7, RENAL, WITH DILATED CARDIOMYOPATHY | ClinVar Annotator: match by term: Hypomagnesemia 7, renal, with or without dilated cardiomyopathy PMID:34607910 11974528 LOC100972354 interferon alpha-2 gene DOID:0002116 pterygium ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16723453 11974528 LOC100972354 interferon alpha-2 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 11974528 LOC100972354 interferon alpha-2 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12560223|PMID:17077332 11974528 LOC100972354 interferon alpha-2 gene DOID:0050873 follicular lymphoma ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12855623 11974528 LOC100972354 interferon alpha-2 gene DOID:0060001 withdrawal disorder ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2449543 11974528 LOC100972354 interferon alpha-2 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7515650 11974528 LOC100972354 interferon alpha-2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1350795 D RGD:9068941 20200609 RGD associated with obesity, protein:increased expression:serum (human) PMID:30602382|REF_RGD_ID:21406431 11974528 LOC100972354 interferon alpha-2 gene DOID:10300 Raynaud disease ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12620292 11974528 LOC100972354 interferon alpha-2 gene DOID:10459 common cold treatment ISO RGD:1350795 D RGD:9068941 20201211 RGD PMID:6381610|REF_RGD_ID:40886344 11974528 LOC100972354 interferon alpha-2 gene DOID:1074 kidney failure ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3597002 11974528 LOC100972354 interferon alpha-2 gene DOID:11054 urinary bladder cancer ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17172406 11974528 LOC100972354 interferon alpha-2 gene DOID:12010 anterior ischemic optic neuropathy ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15980766 11974528 LOC100972354 interferon alpha-2 gene DOID:1227 neutropenia ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1670585 11974528 LOC100972354 interferon alpha-2 gene DOID:12297 Vogt-Koyanagi-Harada disease ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14633182|PMID:15951019|PMID:20172621|PMID:20177954 11974528 LOC100972354 interferon alpha-2 gene DOID:13250 diarrhea ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12620292 11974528 LOC100972354 interferon alpha-2 gene DOID:150 disease of mental health ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10715301 11974528 LOC100972354 interferon alpha-2 gene DOID:1588 thrombocytopenia ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10520005|PMID:12620292|PMID:15274073|PMID:8886046 11974528 LOC100972354 interferon alpha-2 gene DOID:1596 depressive disorder ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12297606|PMID:17292481|PMID:17451562|PMID:19691667 11974528 LOC100972354 interferon alpha-2 gene DOID:1749 squamous cell carcinoma ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17172406 11974528 LOC100972354 interferon alpha-2 gene DOID:1793 pancreatic cancer ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12738744 11974528 LOC100972354 interferon alpha-2 gene DOID:1883 hepatitis C ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11010742|PMID:11132533|PMID:11981781|PMID:15980766|PMID:19302339|PMID:19691667|PMID:9722937 11974528 LOC100972354 interferon alpha-2 gene DOID:1883 hepatitis C treatment ISO RGD:1350795 D RGD:9068941 20200609 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:24983321|REF_RGD_ID:21406430 11974528 LOC100972354 interferon alpha-2 gene DOID:1909 melanoma ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11135225|PMID:12374674|PMID:12393984|PMID:12439608|PMID:12829675|PMID:12883367|PMID:15917704|PMID:16034308|PMID:16248763|PMID:16939954|PMID:17023156|PMID:17576461|PMID:17709802|PMID:17761969|PMID:17973783|PMID:18176117|PMID:18281266|PMID:18332650 11974528 LOC100972354 interferon alpha-2 gene DOID:2030 anxiety disorder ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12297606 11974528 LOC100972354 interferon alpha-2 gene DOID:2043 hepatitis B ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10836394|PMID:11112032|PMID:9339942 11974528 LOC100972354 interferon alpha-2 gene DOID:2043 hepatitis B treatment ISO RGD:1350795 D RGD:9068941 20200609 RGD PMID:8509638|REF_RGD_ID:21406432 11974528 LOC100972354 interferon alpha-2 gene DOID:2074 intestinal perforation ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12810204 11974528 LOC100972354 interferon alpha-2 gene DOID:2224 essential thrombocythemia ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12924084 11974528 LOC100972354 interferon alpha-2 gene DOID:2355 anemia ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11981781|PMID:12620292|PMID:16557544|PMID:1670585|PMID:8886046 11974528 LOC100972354 interferon alpha-2 gene DOID:2671 transitional cell carcinoma ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17172406 11974528 LOC100972354 interferon alpha-2 gene DOID:3021 acute kidney failure ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12810204 11974528 LOC100972354 interferon alpha-2 gene DOID:3068 glioblastoma ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18679580 11974528 LOC100972354 interferon alpha-2 gene DOID:37 skin disease ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12620292 11974528 LOC100972354 interferon alpha-2 gene DOID:4450 renal cell carcinoma ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8886046 11974528 LOC100972354 interferon alpha-2 gene DOID:4737 somatoform disorder ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12297606 11974528 LOC100972354 interferon alpha-2 gene DOID:5082 liver cirrhosis treatment ISO RGD:1350795 D RGD:9068941 20200609 RGD associated with extrahepatic cholestasis;human protein in a rat model PMID:7646558|REF_RGD_ID:21406433 11974528 LOC100972354 interferon alpha-2 gene DOID:5327 retinal detachment ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15951019|PMID:20177954 11974528 LOC100972354 interferon alpha-2 gene DOID:5419 schizophrenia ISO RGD:1350795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11974528 LOC100972354 interferon alpha-2 gene DOID:5679 retinal disease ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12578794 11974528 LOC100972354 interferon alpha-2 gene DOID:583 hemolytic anemia ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11010742|PMID:15293138|PMID:16633111 11974528 LOC100972354 interferon alpha-2 gene DOID:5844 myocardial infarction ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3597002 11974528 LOC100972354 interferon alpha-2 gene DOID:615 leukopenia ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10520005|PMID:12620292|PMID:3298131|PMID:3597002|PMID:8886046 11974528 LOC100972354 interferon alpha-2 gene DOID:630 genetic disease ISO RGD:1350795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974528 LOC100972354 interferon alpha-2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1350795 D RGD:9068941 20200609 RGD associated with hepatitis B; DNA:SNP:enhancer: (rs649053) (human) PMID:29080269|REF_RGD_ID:21406429 11974528 LOC100972354 interferon alpha-2 gene DOID:8552 chronic myeloid leukemia ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10520005|PMID:10715301|PMID:12620292 11974528 LOC100972354 interferon alpha-2 gene DOID:8567 Hodgkin's lymphoma ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16170182 11974528 LOC100972354 interferon alpha-2 gene DOID:8997 polycythemia vera ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20160369 11974528 LOC100972354 interferon alpha-2 gene DOID:9000053 Headache ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15951019 11974528 LOC100972354 interferon alpha-2 gene DOID:9000269 Epithelioid Hemangioendothelioma ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15982392 11974528 LOC100972354 interferon alpha-2 gene DOID:9000386 Polyomavirus Infections ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 11974528 LOC100972354 interferon alpha-2 gene DOID:9000641 Pain ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8759893 11974528 LOC100972354 interferon alpha-2 gene DOID:9000972 Fever ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8026229|PMID:8759893 11974528 LOC100972354 interferon alpha-2 gene DOID:9001109 Anorexia ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8759893 11974528 LOC100972354 interferon alpha-2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12649538 11974528 LOC100972354 interferon alpha-2 gene DOID:9001733 Tinnitus ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15951019 11974528 LOC100972354 interferon alpha-2 gene DOID:9001981 Weight Loss ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1670585 11974528 LOC100972354 interferon alpha-2 gene DOID:9003303 Meningism ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15951019 11974528 LOC100972354 interferon alpha-2 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11454181|PMID:15293138|PMID:15751770|PMID:15951019|PMID:15996025|PMID:16476009|PMID:16633111|PMID:18294165|PMID:9563925|PMID:9860407 11974528 LOC100972354 interferon alpha-2 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1350795 D RGD:9068941 20201211 RGD PMID:19152412|PMID:21272456|PMID:7493300|PMID:8868074|PMID:9187562|PMID:9310930|REF_RGD_ID:40886308|REF_RGD_ID:40886310|REF_RGD_ID:40886313|REF_RGD_ID:40886314|REF_RGD_ID:40886316|REF_RGD_ID:40886318 11974528 LOC100972354 interferon alpha-2 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1350795 D RGD:9068941 20201211 RGD associated with end stage renal disease PMID:17881538|REF_RGD_ID:40886311 11974528 LOC100972354 interferon alpha-2 gene DOID:9004146 Flavivirus Infections ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16902856 11974528 LOC100972354 interferon alpha-2 gene DOID:9004484 Sepsis ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3597002 11974528 LOC100972354 interferon alpha-2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17909728 11974528 LOC100972354 interferon alpha-2 gene DOID:9004657 Weight Gain ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31299271 11974528 LOC100972354 interferon alpha-2 gene DOID:9004751 Nausea ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8759893|PMID:8886046|PMID:9234591 11974528 LOC100972354 interferon alpha-2 gene DOID:9005369 Hepatomegaly ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31299271 11974528 LOC100972354 interferon alpha-2 gene DOID:9005734 Abdominal Pain ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9234591 11974528 LOC100972354 interferon alpha-2 gene DOID:9006449 Chills ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8759893 11974528 LOC100972354 interferon alpha-2 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12643008 11974528 LOC100972354 interferon alpha-2 gene DOID:9006617 Fatigue ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8759893 11974528 LOC100972354 interferon alpha-2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1670585 11974528 LOC100972354 interferon alpha-2 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12802750|PMID:15340535|PMID:15751770|PMID:16246192|PMID:16476009|PMID:16557544|PMID:16944240 11974528 LOC100972354 interferon alpha-2 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1350795 D RGD:9068941 20201211 RGD DNA:SNP:exon: p.Ala120Thr (human) PMID:22610944|REF_RGD_ID:40886317 11974528 LOC100972354 interferon alpha-2 gene DOID:9008385 Vomiting ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8759893|PMID:8886046 11974528 LOC100972354 interferon alpha-2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8026229 11974528 LOC100972354 interferon alpha-2 gene DOID:9008510 Chronic Hepatitis ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15516819 11974528 LOC100972354 interferon alpha-2 gene DOID:9008707 Viremia ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11132533 11974528 LOC100972354 interferon alpha-2 gene DOID:9452 fatty liver disease ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:31299271|PMID:7736406 11974528 LOC100972354 interferon alpha-2 gene DOID:9538 multiple myeloma ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3597002|PMID:8833401|PMID:9234591 11974528 LOC100972354 interferon alpha-2 gene DOID:9637 stomatitis ISO RGD:1350795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9234591 11974533 SEC11A SEC11 homolog A, signal peptidase complex subunit gene DOID:0080600 COVID-19 ISO RGD:1344783 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11974533 SEC11A SEC11 homolog A, signal peptidase complex subunit gene DOID:2717 Bloom syndrome ISO RGD:1344783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11974533 SEC11A SEC11 homolog A, signal peptidase complex subunit gene DOID:630 genetic disease ISO RGD:1344783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974533 SEC11A SEC11 homolog A, signal peptidase complex subunit gene DOID:9256 colorectal cancer ISO RGD:1344783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11974552 RPL13A ribosomal protein L13a gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1351312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11974552 RPL13A ribosomal protein L13a gene DOID:3910 lung adenocarcinoma ISO RGD:1351312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11974552 RPL13A ribosomal protein L13a gene DOID:630 genetic disease ISO RGD:1351312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974552 RPL13A ribosomal protein L13a gene DOID:9006205 Animal Disease Models ISO RGD:1351312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11974564 PLIN3 perilipin 3 gene DOID:630 genetic disease ISO RGD:1343845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974564 PLIN3 perilipin 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11974577 PTBP3 polypyrimidine tract binding protein 3 gene DOID:630 genetic disease ISO RGD:732344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974617 WAS WASP actin nucleation promoting factor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11974617 WAS WASP actin nucleation promoting factor gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1349471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 11974617 WAS WASP actin nucleation promoting factor gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1349471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11974617 WAS WASP actin nucleation promoting factor gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1349471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11974617 WAS WASP actin nucleation promoting factor gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1349471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11974617 WAS WASP actin nucleation promoting factor gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1349471 D RGD:7240710 20180130 OMIM 11974617 WAS WASP actin nucleation promoting factor gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1349471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10202051|PMID:10447259|PMID:10449748|PMID:10653325|PMID:10691337|PMID:10698340|PMID:10737997|PMID:10909851|PMID:11167787|PMID:11242115|PMID:11298372|PMID:11442475|PMID:11793485|PMID:11877312|PMID:12199801|PMID:12727931|PMID:12969986|PMID:14504083|PMID:15284122|PMID:15469902|PMID:15497008|PMID:16091449|PMID:16199547|PMID:16511828|PMID:16638962|PMID:16804117|PMID:17213309|PMID:17250667|PMID:17400488|PMID:17576681|PMID:17703096|PMID:18162713|PMID:19006568|PMID:19308710|PMID:19328743|PMID:19817875|PMID:19863535|PMID:20173115|PMID:20232122|PMID:20513746|PMID:20546529|PMID:20959042|PMID:21185603|PMID:21710275|PMID:21771083|PMID:22038941|PMID:22229731|PMID:22426750|PMID:22523910|PMID:22679904|PMID:23023736|PMID:23033889|PMID:23160469|PMID:23527602|PMID:23689198|PMID:23807894|PMID:24210885|PMID:24402308|PMID:24728327|PMID:25091438|PMID:25332606|PMID:25476427|PMID:25741868|PMID:25792466|PMID:25862925|PMID:25931402|PMID:26261240|PMID:26368308|PMID:26502776|PMID:27566838|PMID:28492532|PMID:28600779|PMID:28623282|PMID:28641574|PMID:28748566|PMID:28901403|PMID:28956125|PMID:29078804|PMID:29896746|PMID:29991546|PMID:30549999|PMID:30697212|PMID:30981783|PMID:31064749|PMID:31352750|PMID:31354712|PMID:31965297|PMID:32097281|PMID:3284030|PMID:33225392|PMID:34355501|PMID:35729272|PMID:7579329|PMID:7579347|PMID:7753869|PMID:8069912|PMID:8528198|PMID:8528199|PMID:8530058|PMID:8595430|PMID:8666397|PMID:8682510|PMID:8743175|PMID:8757562|PMID:8757563|PMID:8931701|PMID:9126958|PMID:9326235|PMID:9476131|PMID:9536098 11974617 WAS WASP actin nucleation promoting factor gene DOID:12155 lymphocytic choriomeningitis ISO RGD:1558289 D RGD:9068941 20200917 RGD PMID:23141740|REF_RGD_ID:38676258 11974617 WAS WASP actin nucleation promoting factor gene DOID:12849 autistic disorder ISO RGD:1349471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11974617 WAS WASP actin nucleation promoting factor gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1349471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:16783379|PMID:22706301|PMID:23704091|PMID:24453067|PMID:28492532 11974617 WAS WASP actin nucleation promoting factor gene DOID:1588 thrombocytopenia ISO RGD:1349471 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:11167787|PMID:12969986|PMID:15284122|PMID:19817875|PMID:20546529|PMID:21185603|PMID:23160469|PMID:25741868|PMID:27885891|PMID:28492532|PMID:28641574|PMID:31064749|PMID:7753869|PMID:8666397|PMID:8757563|PMID:9326235 11974617 WAS WASP actin nucleation promoting factor gene DOID:2213 hemorrhagic disease ISO RGD:1349471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 11974617 WAS WASP actin nucleation promoting factor gene DOID:2986 IgA glomerulonephritis ISO RGD:1558289 D RGD:9068941 20220825 MouseDO OMIM:161950 | OMIM:616818 11974617 WAS WASP actin nucleation promoting factor gene DOID:3298 vaccinia severity ISO RGD:1558289 D RGD:9068941 20200917 RGD PMID:15681416|REF_RGD_ID:38599240 11974617 WAS WASP actin nucleation promoting factor gene DOID:630 genetic disease ISO RGD:1349471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11974617 WAS WASP actin nucleation promoting factor gene DOID:9000557 Thrombocytopenia 1 ISO RGD:1349471 D RGD:7240710 20180130 OMIM 11974617 WAS WASP actin nucleation promoting factor gene DOID:9000557 Thrombocytopenia 1 ISO RGD:1349471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 1 PMID:10447259|PMID:10575547|PMID:11167787|PMID:11442475|PMID:11793485|PMID:12199801|PMID:12591280|PMID:12727931|PMID:12969986|PMID:14504083|PMID:14612666|PMID:15284122|PMID:16199547|PMID:16562789|PMID:17400488|PMID:17576681|PMID:17703096|PMID:19308710|PMID:19817875|PMID:19863535|PMID:20173115|PMID:20232122|PMID:20546529|PMID:21185603|PMID:22038941|PMID:23023736|PMID:23160469|PMID:24210885|PMID:24728327|PMID:25091438|PMID:25741868|PMID:26261240|PMID:28492532|PMID:28641574|PMID:31064749|PMID:31965297|PMID:33225392|PMID:7579329|PMID:7753869|PMID:7795648|PMID:8528198|PMID:8595430|PMID:8666397|PMID:8682510|PMID:8757563|PMID:8931701|PMID:9126958|PMID:9326235|PMID:9536098 11974617 WAS WASP actin nucleation promoting factor gene DOID:9005525 X-Linked Thrombocytopenia, Intermittent ISO RGD:1349471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia, X-linked, intermittent PMID:11877312 11974617 WAS WASP actin nucleation promoting factor gene DOID:9006262 Cytomegalovirus Infections severity ISO RGD:1558289 D RGD:9068941 20200917 RGD PMID:30981413|REF_RGD_ID:38676256 11974617 WAS WASP actin nucleation promoting factor gene DOID:9169 Wiskott-Aldrich syndrome ISO RGD:1349471 D RGD:7240710 20180130 OMIM 11974617 WAS WASP actin nucleation promoting factor gene DOID:9169 Wiskott-Aldrich syndrome ISO RGD:1349471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Wiskott-Aldrich syndrome | ClinVar Annotator: match by term: Wiskott-Aldrich syndrome, attenuated PMID:10202051|PMID:10447259|PMID:10449748|PMID:10653325|PMID:10691337|PMID:10737997|PMID:11242115|PMID:11298372|PMID:11442475|PMID:11793485|PMID:12073025|PMID:12199801|PMID:12351383|PMID:12437929|PMID:12727931|PMID:12969986|PMID:14504083|PMID:14566484|PMID:14612666|PMID:15284122|PMID:15497008|PMID:16091449|PMID:16199547|PMID:16511828|PMID:16638962|PMID:17065640|PMID:17213309|PMID:17250667|PMID:17390083|PMID:17400488|PMID:17576681|PMID:17703096|PMID:18162713|PMID:19308710|PMID:19817875|PMID:19863535|PMID:20173115|PMID:20232122|PMID:20513746|PMID:20546529|PMID:20959042|PMID:21185603|PMID:21710275|PMID:21771083|PMID:22038941|PMID:22426750|PMID:22523910|PMID:22679904|PMID:23023736|PMID:23033889|PMID:23527602|PMID:23689198|PMID:24210885|PMID:24728327|PMID:25091438|PMID:25332606|PMID:25741868|PMID:25792466|PMID:25931402|PMID:27885891|PMID:27993330|PMID:28492532|PMID:2906042|PMID:30981783|PMID:31965297|PMID:33225392|PMID:34355501|PMID:35729272|PMID:7579329|PMID:7579347|PMID:7735919|PMID:7753869|PMID:7795648|PMID:8069912|PMID:8528198|PMID:8528199|PMID:8595430|PMID:8673127|PMID:8682510|PMID:8743175|PMID:8931701|PMID:9126958|PMID:9326235|PMID:9536098|PMID:9657775 11974633 BRDT bromodomain testis associated gene DOID:0070163 spermatogenic failure 21 ISO RGD:1315431 D RGD:7240710 20190315 OMIM 11974633 BRDT bromodomain testis associated gene DOID:0070163 spermatogenic failure 21 ISO RGD:1315431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 21 PMID:28199965 11974633 BRDT bromodomain testis associated gene DOID:14227 azoospermia ISO RGD:1315431 D RGD:9068941 20200609 RGD protein:decreased expression:testis: PMID:22035730|REF_RGD_ID:9586359 11974633 BRDT bromodomain testis associated gene DOID:14227 azoospermia susceptibility ISO RGD:1315431 D RGD:9068941 20200609 RGD DNA:SNP: :rs3088232(human) PMID:22016351|REF_RGD_ID:9586360 11974633 BRDT bromodomain testis associated gene DOID:14228 oligospermia susceptibility ISO RGD:1315431 D RGD:9068941 20200609 RGD DNA:SNP: :rs3088232(human) PMID:22016351|REF_RGD_ID:9586360 11974633 BRDT bromodomain testis associated gene DOID:5426 primary ovarian insufficiency ISO RGD:1315431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11974633 BRDT bromodomain testis associated gene DOID:630 genetic disease ISO RGD:1315431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974671 SNAP47 synaptosome associated protein 47 gene DOID:1540 parathyroid carcinoma ISO RGD:1601832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11974671 SNAP47 synaptosome associated protein 47 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1601832 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:34664776 11974671 SNAP47 synaptosome associated protein 47 gene DOID:630 genetic disease ISO RGD:1601832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974671 SNAP47 synaptosome associated protein 47 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11974704 ARID5A AT-rich interaction domain 5A gene DOID:1059 intellectual disability ISO RGD:1322287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11974704 ARID5A AT-rich interaction domain 5A gene DOID:5419 schizophrenia ISO RGD:1322287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11974704 ARID5A AT-rich interaction domain 5A gene DOID:630 genetic disease ISO RGD:1322287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974721 GKN1 gastrokine 1 gene DOID:299 adenocarcinoma ISO RGD:1351595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 11974721 GKN1 gastrokine 1 gene DOID:5119 ovarian cyst ISO RGD:1351595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 11974721 GKN1 gastrokine 1 gene DOID:630 genetic disease ISO RGD:1351595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974721 GKN1 gastrokine 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1351595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 11974731 DDX49 DEAD-box helicase 49 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1322415 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 11974731 DDX49 DEAD-box helicase 49 gene DOID:630 genetic disease ISO RGD:1322415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974731 DDX49 DEAD-box helicase 49 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1322415 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11974780 CA3 carbonic anhydrase 3 gene DOID:10316 pneumoconiosis ISO RGD:1353547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 11974780 CA3 carbonic anhydrase 3 gene DOID:630 genetic disease ISO RGD:1353547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974780 CA3 carbonic anhydrase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1332219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11974780 CA3 carbonic anhydrase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 11974780 CA3 carbonic anhydrase 3 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1332219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 11974780 CA3 carbonic anhydrase 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1332219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11974780 CA3 carbonic anhydrase 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11974780 CA3 carbonic anhydrase 3 gene DOID:9452 fatty liver disease ISO RGD:1332219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11974780 CA3 carbonic anhydrase 3 gene DOID:9970 obesity ISO RGD:1353547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 11974792 SYNPO2L synaptopodin 2 like gene DOID:0060224 atrial fibrillation ISO RGD:1348800 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11974792 SYNPO2L synaptopodin 2 like gene DOID:630 genetic disease ISO RGD:1348800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974805 LOC100970584 cytochrome b-c1 complex subunit 10 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1348323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 11974805 LOC100970584 cytochrome b-c1 complex subunit 10 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1348323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11974805 LOC100970584 cytochrome b-c1 complex subunit 10 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1348323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 11974805 LOC100970584 cytochrome b-c1 complex subunit 10 gene DOID:5339 cyclic hematopoiesis ISO RGD:1348323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11974805 LOC100970584 cytochrome b-c1 complex subunit 10 gene DOID:630 genetic disease ISO RGD:1348323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974805 LOC100970584 cytochrome b-c1 complex subunit 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:0040084 Streptococcus pneumonia ISO RGD:731346 D RGD:9068941 20201015 RGD mRNA:increased expression:lung (mouse) PMID:20385761|REF_RGD_ID:39938865 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:0050120 hemophagocytic lymphohistiocytosis ISO RGD:731346 D RGD:9068941 20201015 RGD PMID:26914138|REF_RGD_ID:11529541 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:0050211 swine influenza ISO RGD:731346 D RGD:9068941 20201029 RGD PMID:24799604|REF_RGD_ID:39939082 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:0050211 swine influenza disease_progression ISO RGD:731346 D RGD:9068941 20201029 RGD PMID:23785507|REF_RGD_ID:39939079 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1346818 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35687267 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:10591 pre-eclampsia ISO RGD:731346 D RGD:9068941 20220825 MouseDO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:11263 chlamydia ISO RGD:731346 D RGD:9068941 20201015 RGD mRNA:increased expression:lung (mouse) PMID:31249813|REF_RGD_ID:39938856 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:11263 chlamydia treatment ISO RGD:1346818 D RGD:9068941 20200807 RGD PMID:30832593|REF_RGD_ID:38455984 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:12205 dengue disease treatment ISO RGD:1346818 D RGD:9068941 20201029 RGD PMID:31821895|REF_RGD_ID:39939074 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:12385 shigellosis treatment ISO RGD:731346 D RGD:9068941 20201022 RGD PMID:30615126|REF_RGD_ID:39938959 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:12662 paracoccidioidomycosis ISO RGD:731346 D RGD:9068941 20201029 RGD mRNA, protein:decreased expression, decreased activity:lung,plasmacytoid dendritic cell (mouse) PMID:27992577|REF_RGD_ID:39939072 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:1289 neurodegenerative disease ISO RGD:1346818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16365156 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:14115 toxic shock syndrome severity ISO RGD:1346818 D RGD:9068941 20201029 RGD protein:increased activity, increased expression:plasma, heart (human) PMID:21765346|REF_RGD_ID:39939075 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:2122 pneumonic tularemia ISO RGD:731346 D RGD:9068941 20201015 RGD PMID:20385761|REF_RGD_ID:39938865 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:2272 vulvovaginal candidiasis ISO RGD:731346 D RGD:9068941 20201015 RGD PMID:23853597|REF_RGD_ID:39938863 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:289 endometriosis ISO RGD:1346818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:2957 pulmonary tuberculosis treatment ISO RGD:1346818 D RGD:9068941 20201029 RGD PMID:32369456|REF_RGD_ID:39939073 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:630 genetic disease ISO RGD:1346818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:635 acquired immunodeficiency syndrome ISO RGD:1346818 D RGD:9068941 20201029 RGD associated with pulmonary tuberculosis;protein:increased expression:blood (human) PMID:32369456|REF_RGD_ID:39939073 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:646 viral encephalitis ISO RGD:731346 D RGD:9068941 20201023 RGD PMID:30770561|REF_RGD_ID:39939045 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9000113 Pneumococcal Meningitis treatment ISO RGD:731346 D RGD:9068941 20201029 RGD PMID:24844751|REF_RGD_ID:39939118 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9000469 Viral Myocarditis ISO RGD:731346 D RGD:9068941 20201023 RGD PMID:31416389|REF_RGD_ID:39939047 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731346 D RGD:9068941 20201023 RGD PMID:28465467|REF_RGD_ID:39939037 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9001573 Experimental Liver Cirrhosis severity ISO RGD:731346 D RGD:9068941 20201023 RGD protein:increased expression:serum (mouse) PMID:28465467|REF_RGD_ID:39939037 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9002765 Systemic Juvenile Rheumatoid Arthritis ISO RGD:731346 D RGD:9068941 20201015 RGD PMID:26914138|REF_RGD_ID:11529541 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:731346 D RGD:9068941 20201029 RGD associated with Pneumococcal Meningitis PMID:24844751|REF_RGD_ID:39939118 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1346818 D RGD:9068941 20201029 RGD mRNA, protein:increased expression, increased activity:monocytes,myeloid dendritic cells,serum (human) PMID:25605587|REF_RGD_ID:39939081 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9004484 Sepsis treatment ISO RGD:731346 D RGD:9068941 20201015 RGD PMID:25114116|REF_RGD_ID:39938864 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:731346 D RGD:9068941 20201022 RGD PMID:25278421|REF_RGD_ID:39939031 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9004657 Weight Gain ISO RGD:1346818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27020609 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1346818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9005099 Salmonella Infections, Animal susceptibility ISO RGD:731346 D RGD:9068941 20201022 RGD PMID:24930766|REF_RGD_ID:39939032 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9005106 Animal Toxoplasmosis ISO RGD:731346 D RGD:9068941 20201023 RGD PMID:31231617|REF_RGD_ID:39939039 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9005372 Inflammation ISO RGD:1346818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16365156 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9005930 Endotoxemia ISO RGD:731346 D RGD:9068941 20201029 RGD PMID:24930766|PMID:28077574|REF_RGD_ID:39939032|REF_RGD_ID:39939117 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1346818 D RGD:9068941 20201022 RGD protein:increased expression:serum (human) PMID:28465467|REF_RGD_ID:39939037 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1346818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9123 eczema herpeticum severity ISO RGD:1346818 D RGD:9068941 20201022 RGD associated with atopic dermatitis; protein:increased activity:serum (human) PMID:26198597|REF_RGD_ID:11528429 11974812 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9970 obesity ISO RGD:1346818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27020609 11974835 ZNF341 zinc finger protein 341 gene DOID:0080595 hyper IgE recurrent infection syndrome 3 ISO RGD:1346802 D RGD:7240710 20190315 OMIM 11974835 ZNF341 zinc finger protein 341 gene DOID:0080595 hyper IgE recurrent infection syndrome 3 ISO RGD:1346802 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 3, autosomal recessive PMID:25741868|PMID:28492532|PMID:29907690|PMID:29907691 11974835 ZNF341 zinc finger protein 341 gene DOID:2843 long QT syndrome ISO RGD:1346802 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555|PMID:28492532 11974835 ZNF341 zinc finger protein 341 gene DOID:630 genetic disease ISO RGD:1346802 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11974858 NECAB2 N-terminal EF-hand calcium binding protein 2 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1345623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 11974858 NECAB2 N-terminal EF-hand calcium binding protein 2 gene DOID:630 genetic disease ISO RGD:1345623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974858 NECAB2 N-terminal EF-hand calcium binding protein 2 gene DOID:9005126 Malonic Aciduria ISO RGD:1345623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of malonyl-CoA decarboxylase PMID:12955715|PMID:17186413|PMID:28492532 11974858 NECAB2 N-terminal EF-hand calcium binding protein 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1345623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11974882 XPNPEP1 X-prolyl aminopeptidase 1 gene DOID:630 genetic disease ISO RGD:733430 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974910 SGO2 shugoshin 2 gene DOID:630 genetic disease ISO RGD:1318224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974910 SGO2 shugoshin 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1318224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 11974910 SGO2 shugoshin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11974923 MPP7 MAGUK p55 scaffold protein 7 gene DOID:303 substance-related disorder ISO RGD:1344792 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11974923 MPP7 MAGUK p55 scaffold protein 7 gene DOID:630 genetic disease ISO RGD:1344792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11974952 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1343816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability PMID:25741868|PMID:28492532 11974952 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:0060022 CD40 ligand deficiency ISO RGD:1343816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11974952 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11974952 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:0060825 Christianson syndrome ISO RGD:1343816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11974952 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:1343816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:25741868 11974952 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:0112055 non-syndromic X-linked intellectual disability 46 ISO RGD:1343816 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked 46 PMID:11017088|PMID:18414213|PMID:25741868|PMID:28492532 11974952 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:1059 intellectual disability ISO RGD:1343816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11974952 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:1059 intellectual disability susceptibility ISO RGD:1343816 D RGD:9068941 20200609 RGD PMID:11017088|REF_RGD_ID:1599214 11974952 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:12849 autistic disorder ISO RGD:1343816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11974952 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:630 genetic disease ISO RGD:1343816 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 11974952 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1343816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11974952 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:9002704 Leukoencephalopathies ISO RGD:1343816 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CACH/VWM syndrome PMID:25741868 11974952 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1343816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Visceral heterotaxia PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11974952 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343816 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ARHGEF6-associated Neurodevelopmental disorder 11974952 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:9005348 Leukoencephalopathy with Vanishing White Matter 1 ISO RGD:1343816 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1 PMID:25741868 11974952 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:9007823 Chromosome Xq26.3 Duplication Syndrome ISO RGD:1343816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome PMID:25712922|PMID:26935837 11974987 DNAAF9 dynein axonemal assembly factor 9 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1349038 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11974987 DNAAF9 dynein axonemal assembly factor 9 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1349038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11974987 DNAAF9 dynein axonemal assembly factor 9 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1349038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 11975037 PAX3 paired box 3 gene DOID:0080016 spina bifida ISO RGD:1351352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12854658|PMID:17149730|PMID:3902948|PMID:6385329 11975037 PAX3 paired box 3 gene DOID:0080074 neural tube defect ISO RGD:1351352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12739027|PMID:12854658|PMID:3293260 11975037 PAX3 paired box 3 gene DOID:0080074 neural tube defect ISO RGD:1552573 D RGD:9068941 20220825 MouseDO OMIM:182940 | OMIM:301410 | OMIM:601634 11975037 PAX3 paired box 3 gene DOID:0080799 sinonasal undifferentiated carcinoma ISO RGD:1351352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24859338 11975037 PAX3 paired box 3 gene DOID:0090100 ocular albinism with sensorineural deafness ISO RGD:1351352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness PMID:25741868 11975037 PAX3 paired box 3 gene DOID:0110948 Waardenburg syndrome type 1 ISO RGD:1351352 D RGD:7240710 20200812 OMIM 11975037 PAX3 paired box 3 gene DOID:0110948 Waardenburg syndrome type 1 ISO RGD:1351352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 1 PMID:12414908|PMID:1303193|PMID:1308353|PMID:1347148|PMID:1347149|PMID:16199547|PMID:18325909|PMID:1887852|PMID:20127975|PMID:20199465|PMID:20301703|PMID:20478267|PMID:21965087|PMID:23512835|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24651602|PMID:25525159|PMID:25736269|PMID:25741868|PMID:25991456|PMID:26149688|PMID:26275939|PMID:26467025|PMID:27759048|PMID:28381738|PMID:28492532|PMID:28686331|PMID:29407415|PMID:30311386|PMID:30936914|PMID:30978479|PMID:32747562|PMID:34008892|PMID:34599368|PMID:7573125|PMID:7726174|PMID:7897628|PMID:8019556|PMID:8423616|PMID:8447316|PMID:8490648|PMID:8533800|PMID:858969|PMID:8589691|PMID:8799378|PMID:8845842|PMID:8863157|PMID:9017978|PMID:9067759|PMID:9232624|PMID:9279758|PMID:9302254|PMID:9584079|PMID:9654197|PMID:9856573 11975037 PAX3 paired box 3 gene DOID:0110949 Waardenburg syndrome type 3 ISO RGD:1351352 D RGD:7240710 20180130 OMIM 11975037 PAX3 paired box 3 gene DOID:0110949 Waardenburg syndrome type 3 ISO RGD:1351352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 3 PMID:11683776|PMID:12949970|PMID:1536170|PMID:20127975|PMID:23512835|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26275939|PMID:27759048|PMID:28492532|PMID:29407415|PMID:30311386|PMID:30978479|PMID:32747562|PMID:34008892|PMID:34599368|PMID:7091186|PMID:7726174|PMID:8019556|PMID:8447316 11975037 PAX3 paired box 3 gene DOID:0111336 craniofacial-deafness-hand syndrome ISO RGD:1351352 D RGD:7240710 20180130 OMIM 11975037 PAX3 paired box 3 gene DOID:0111336 craniofacial-deafness-hand syndrome ISO RGD:1351352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniofacial-deafness-hand syndrome PMID:23806086|PMID:24033266|PMID:24088041|PMID:25736269|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29407415|PMID:30311386|PMID:6859126|PMID:8589691|PMID:8664898|PMID:8863157|PMID:9584079|PMID:9856573 11975037 PAX3 paired box 3 gene DOID:1059 intellectual disability ISO RGD:1351352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18325909|PMID:25741868|PMID:28381738|PMID:28492532|PMID:28686331|PMID:29407415 11975037 PAX3 paired box 3 gene DOID:1115 sarcoma ISO RGD:1351352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24859338 11975037 PAX3 paired box 3 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1351352 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia PMID:23806086|PMID:24033266|PMID:24088041|PMID:25736269|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29407415|PMID:8589691|PMID:8863157|PMID:9584079|PMID:9856573 11975037 PAX3 paired box 3 gene DOID:4051 alveolar rhabdomyosarcoma ISO RGD:1351352 D RGD:7240710 20180130 OMIM 11975037 PAX3 paired box 3 gene DOID:4051 alveolar rhabdomyosarcoma ISO RGD:1351352 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma PMID:20199465|PMID:20478267|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32747562|PMID:8589691|PMID:8799378|PMID:9654197 11975037 PAX3 paired box 3 gene DOID:4202 brain stem glioma ISO RGD:1552573 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brain stem: PMID:25330836|REF_RGD_ID:13702891 11975037 PAX3 paired box 3 gene DOID:630 genetic disease ISO RGD:1351352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11975037 PAX3 paired box 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11975037 PAX3 paired box 3 gene DOID:9004538 Hearing Loss ISO RGD:1351352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:28492532|PMID:30311386 11975037 PAX3 paired box 3 gene DOID:9004795 Congenital Hand Deformities ISO RGD:1351352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14556253 11975037 PAX3 paired box 3 gene DOID:9006534 Nervous System Malformations ISO RGD:1351352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7556916 11975037 PAX3 paired box 3 gene DOID:9008681 Deafness ISO RGD:1351352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14556253 11975037 PAX3 paired box 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1351352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14556253 11975037 PAX3 paired box 3 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:620431 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart (rat) PMID:15616818|REF_RGD_ID:1580942 11975037 PAX3 paired box 3 gene DOID:9258 Waardenburg's syndrome ISO RGD:1351352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome | ClinVar Annotator: match by term: White forelock (poliosis) syndrome with multiple congenital malformations PMID:12414908|PMID:1308353|PMID:1349198|PMID:20127975|PMID:20301703|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24651602|PMID:25736269|PMID:25741868|PMID:26467025|PMID:26512583|PMID:28492532|PMID:29407415|PMID:30311386|PMID:8447316|PMID:8533800|PMID:8589691|PMID:8863157|PMID:9017978|PMID:9302254|PMID:9584079|PMID:9654197|PMID:9856573 11975061 TRIM45 tripartite motif containing 45 gene DOID:630 genetic disease ISO RGD:1319359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11975081 NIPAL2 NIPA like domain containing 2 gene DOID:0111590 Cohen syndrome ISO RGD:1605636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 11975081 NIPAL2 NIPA like domain containing 2 gene DOID:630 genetic disease ISO RGD:1605636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11975081 NIPAL2 NIPA like domain containing 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11975097 DUSP15 dual specificity phosphatase 15 gene DOID:630 genetic disease ISO RGD:1314347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11975114 EPC2 enhancer of polycomb homolog 2 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1316366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:19904302|PMID:21981781|PMID:23632792 11975114 EPC2 enhancer of polycomb homolog 2 gene DOID:630 genetic disease ISO RGD:1316366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11975114 EPC2 enhancer of polycomb homolog 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1316366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 11975135 TMEM266 transmembrane protein 266 gene DOID:2717 Bloom syndrome ISO RGD:1351477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11975135 TMEM266 transmembrane protein 266 gene DOID:5419 schizophrenia ISO RGD:1351477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11975135 TMEM266 transmembrane protein 266 gene DOID:630 genetic disease ISO RGD:1351477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11975135 TMEM266 transmembrane protein 266 gene DOID:9256 colorectal cancer ISO RGD:1351477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11975150 NODAL nodal growth differentiation factor gene DOID:0050545 visceral heterotaxy ISO RGD:1314354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visceral heterotaxy PMID:19064609|PMID:25741868|PMID:28492532 11975150 NODAL nodal growth differentiation factor gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ISO RGD:1314354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 PMID:28492532 11975150 NODAL nodal growth differentiation factor gene DOID:1682 congenital heart disease ISO RGD:1314354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:19064609|PMID:25741868|PMID:31680349 11975150 NODAL nodal growth differentiation factor gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1314354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:19064609|PMID:25741868|PMID:28492532 11975150 NODAL nodal growth differentiation factor gene DOID:4621 holoprosencephaly ISO RGD:1314354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:19064609|PMID:19553149|PMID:22352765|PMID:24033266|PMID:25741868|PMID:28492532 11975150 NODAL nodal growth differentiation factor gene DOID:630 genetic disease ISO RGD:1314354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19064609|PMID:25741868|PMID:28492532 11975150 NODAL nodal growth differentiation factor gene DOID:758 situs inversus ISO RGD:1314354 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Situs inversus PMID:19064609|PMID:19553149|PMID:25741868 11975150 NODAL nodal growth differentiation factor gene DOID:769 neuroblastoma ISO RGD:1314354 D RGD:9068941 20220922 RGD mRNA:increased expression:neural tissue (human) PMID:30985990|REF_RGD_ID:155226876 11975150 NODAL nodal growth differentiation factor gene DOID:9002116 Congenitally Corrected Transposition of the Great Arteries ISO RGD:1314354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenitally corrected transposition of the great arteries PMID:25741868 11975150 NODAL nodal growth differentiation factor gene DOID:9007098 Pulmonary Atresia susceptibility ISO RGD:1314354 D RGD:9068941 20220922 RGD DNA:mutations PMID:19064609|REF_RGD_ID:11568370 11975150 NODAL nodal growth differentiation factor gene DOID:9008288 Visceral Heterotaxy 5, Autosomal ISO RGD:1314354 D RGD:7240710 20180130 OMIM 11975150 NODAL nodal growth differentiation factor gene DOID:9008288 Visceral Heterotaxy 5, Autosomal ISO RGD:1314354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal | ClinVar Annotator: match by term: NODAL-Related Disorders PMID:12447384|PMID:16199547|PMID:17576681|PMID:18579681|PMID:19064609|PMID:19553149|PMID:19933292|PMID:22352765|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29368431|PMID:9354794|PMID:9536098 11975159 ECI1 enoyl-CoA delta isomerase 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1352961 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 11975159 ECI1 enoyl-CoA delta isomerase 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1352961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 11975159 ECI1 enoyl-CoA delta isomerase 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1352961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11975159 ECI1 enoyl-CoA delta isomerase 1 gene DOID:1826 epilepsy ISO RGD:1352961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11975159 ECI1 enoyl-CoA delta isomerase 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1352961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11975159 ECI1 enoyl-CoA delta isomerase 1 gene DOID:2871 endometrial carcinoma ISO RGD:1352961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 11975159 ECI1 enoyl-CoA delta isomerase 1 gene DOID:630 genetic disease ISO RGD:1352961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11975181 IRS2 insulin receptor substrate 2 gene DOID:0050902 medulloblastoma ISO RGD:736204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 11975181 IRS2 insulin receptor substrate 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69316 D RGD:9068941 20200609 RGD PMID:20846698|REF_RGD_ID:6483014 11975181 IRS2 insulin receptor substrate 2 gene DOID:10652 Alzheimer's disease ISO RGD:736205 D RGD:9068941 20200609 RGD PMID:19487308|REF_RGD_ID:10045878 11975181 IRS2 insulin receptor substrate 2 gene DOID:10652 Alzheimer's disease ISO RGD:736205 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus: PMID:24887203|REF_RGD_ID:10045934 11975181 IRS2 insulin receptor substrate 2 gene DOID:10652 Alzheimer's disease severity ISO RGD:736204 D RGD:9068941 20200609 RGD protein:decreased expression:temporal cortex: PMID:18479783|REF_RGD_ID:10045894 11975181 IRS2 insulin receptor substrate 2 gene DOID:11476 osteoporosis ISO RGD:69316 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; protein:decreased expression:liver,kidney, muscle: PMID:22820932|REF_RGD_ID:7207063 11975181 IRS2 insulin receptor substrate 2 gene DOID:2222 factor X deficiency ISO RGD:736204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 11975181 IRS2 insulin receptor substrate 2 gene DOID:4195 hyperglycemia ISO RGD:736204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20028942|PMID:25808216 11975181 IRS2 insulin receptor substrate 2 gene DOID:630 genetic disease ISO RGD:736204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11975181 IRS2 insulin receptor substrate 2 gene DOID:684 hepatocellular carcinoma ISO RGD:736204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16127164 11975181 IRS2 insulin receptor substrate 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:736204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11975181 IRS2 insulin receptor substrate 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736204 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney tubule: PMID:23617393|REF_RGD_ID:7257702 11975181 IRS2 insulin receptor substrate 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:69316 D RGD:9068941 20200609 RGD PMID:20720385|REF_RGD_ID:7257699 11975181 IRS2 insulin receptor substrate 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:736204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11975181 IRS2 insulin receptor substrate 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69316 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:heart PMID:20555424|REF_RGD_ID:4142788 11975181 IRS2 insulin receptor substrate 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25808216 11975181 IRS2 insulin receptor substrate 2 gene DOID:9007692 Insulin Resistance ISO RGD:736204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25808216 11975181 IRS2 insulin receptor substrate 2 gene DOID:9007692 Insulin Resistance ISO RGD:736204 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:G1057D PMID:15811564|REF_RGD_ID:1625025 11975181 IRS2 insulin receptor substrate 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736204 D RGD:7240710 20180130 OMIM 11975188 CHST6 carbohydrate sulfotransferase 6 gene DOID:0060041 autism spectrum disorder ISO RGD:1342606 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11975188 CHST6 carbohydrate sulfotransferase 6 gene DOID:0110989 Joubert syndrome 20 ISO RGD:1342606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 20 PMID:23012439|PMID:27449316|PMID:28492532 11975188 CHST6 carbohydrate sulfotransferase 6 gene DOID:2565 macular corneal dystrophy ISO RGD:1342606 D RGD:7240710 20180130 OMIM 11975188 CHST6 carbohydrate sulfotransferase 6 gene DOID:2565 macular corneal dystrophy ISO RGD:1342606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy | ClinVar Annotator: match by term: Macular corneal dystrophy, type II PMID:11017086|PMID:11278593|PMID:11818380|PMID:12824236|PMID:12882775|PMID:14609920|PMID:14735064|PMID:14984470|PMID:15013869|PMID:15652851|PMID:15953452|PMID:16207214|PMID:16568029|PMID:17093400|PMID:17896316|PMID:17962390|PMID:18500531|PMID:19204788|PMID:19337156|PMID:19365571|PMID:19710953|PMID:20539220|PMID:24033266|PMID:24311932|PMID:24926691|PMID:25081284|PMID:25741868|PMID:26604660|PMID:27439461|PMID:28492532|PMID:29221207|PMID:32472422|PMID:33816482|PMID:35985662 11975188 CHST6 carbohydrate sulfotransferase 6 gene DOID:630 genetic disease ISO RGD:1342606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11975201 RWDD2B RWD domain containing 2B gene DOID:630 genetic disease ISO RGD:1312868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11975215 BRWD1 bromodomain and WD repeat domain containing 1 gene DOID:12336 male infertility ISO RGD:1345101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 11975215 BRWD1 bromodomain and WD repeat domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1345101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:22495309|PMID:25326635|PMID:25741868|PMID:30208311 11975215 BRWD1 bromodomain and WD repeat domain containing 1 gene DOID:14228 oligospermia ISO RGD:1345101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18353305 11975215 BRWD1 bromodomain and WD repeat domain containing 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1345101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11975215 BRWD1 bromodomain and WD repeat domain containing 1 gene DOID:630 genetic disease ISO RGD:1345101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11975256 ALCAM activated leukocyte cell adhesion molecule gene DOID:0080600 COVID-19 ISO RGD:733283 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11975256 ALCAM activated leukocyte cell adhesion molecule gene DOID:305 carcinoma ISO RGD:733283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11975256 ALCAM activated leukocyte cell adhesion molecule gene DOID:630 genetic disease ISO RGD:733283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11975256 ALCAM activated leukocyte cell adhesion molecule gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11975256 ALCAM activated leukocyte cell adhesion molecule gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:619972 D RGD:9068941 20220324 RGD mRNA:increased expression:mammary gland (rat) PMID:16316942|REF_RGD_ID:2306898 11975256 ALCAM activated leukocyte cell adhesion molecule gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11975277 PPP1R14C protein phosphatase 1 regulatory inhibitor subunit 14C gene DOID:0080599 Coronavirus infectious disease ISO RGD:735967 D RGD:9068941 20220825 MouseDO 11975277 PPP1R14C protein phosphatase 1 regulatory inhibitor subunit 14C gene DOID:630 genetic disease ISO RGD:735966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11975287 SSH3 slingshot protein phosphatase 3 gene DOID:1059 intellectual disability ISO RGD:1318592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11975287 SSH3 slingshot protein phosphatase 3 gene DOID:630 genetic disease ISO RGD:1318592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11975287 SSH3 slingshot protein phosphatase 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1318592 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11975287 SSH3 slingshot protein phosphatase 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1318592 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11975305 CDC25A cell division cycle 25A gene DOID:0050770 polycystic liver disease ISO RGD:731492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 11975305 CDC25A cell division cycle 25A gene DOID:0050770 polycystic liver disease treatment ISO RGD:731493 D RGD:9068941 20200609 RGD PMID:22155366|REF_RGD_ID:14700990 11975305 CDC25A cell division cycle 25A gene DOID:0080600 COVID-19 ISO RGD:731492 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11975305 CDC25A cell division cycle 25A gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:621498 D RGD:9068941 20200609 RGD protein:increased expression:cholangiocyte: PMID:22155366|REF_RGD_ID:14700990 11975305 CDC25A cell division cycle 25A gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:731492 D RGD:9068941 20200609 RGD protein:increased expression:cholangiocyte: PMID:22155366|REF_RGD_ID:14700990 11975305 CDC25A cell division cycle 25A gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:731493 D RGD:9068941 20200609 RGD protein:increased expression:cholangiocyte: PMID:22155366|REF_RGD_ID:14700990 11975305 CDC25A cell division cycle 25A gene DOID:0110861 autosomal recessive polycystic kidney disease treatment ISO RGD:621498 D RGD:9068941 20200609 RGD PMID:22155366|REF_RGD_ID:14700990 11975305 CDC25A cell division cycle 25A gene DOID:10283 prostate cancer ISO RGD:731492 D RGD:9068941 20200609 RGD PMID:18974148|REF_RGD_ID:2743964 11975305 CDC25A cell division cycle 25A gene DOID:11054 urinary bladder cancer ISO RGD:731492 D RGD:9068941 20200609 RGD PMID:17145867|REF_RGD_ID:2715645 11975305 CDC25A cell division cycle 25A gene DOID:2101 vulva squamous cell carcinoma ISO RGD:731492 D RGD:9068941 20200609 RGD protein:increased expression:vulva PMID:20500813|REF_RGD_ID:2729590 11975305 CDC25A cell division cycle 25A gene DOID:3459 breast carcinoma disease_progression ISO RGD:731492 D RGD:9068941 20200609 RGD PMID:19555767|REF_RGD_ID:2734052 11975305 CDC25A cell division cycle 25A gene DOID:4362 cervical cancer ISO RGD:731492 D RGD:9068941 20200609 RGD PMID:18299147|REF_RGD_ID:2296067 11975305 CDC25A cell division cycle 25A gene DOID:630 genetic disease ISO RGD:731492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11975305 CDC25A cell division cycle 25A gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:731492 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Isolated polycystic liver disease 11975305 CDC25A cell division cycle 25A gene DOID:9002221 Hyperplasia ISO RGD:731492 D RGD:9068941 20200609 RGD PMID:17283130|REF_RGD_ID:2764000 11975305 CDC25A cell division cycle 25A gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:731492 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11975305 CDC25A cell division cycle 25A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731492 D RGD:9068941 20200609 RGD PMID:17283130|REF_RGD_ID:2764000 11975305 CDC25A cell division cycle 25A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731493 D RGD:9068941 20200609 RGD PMID:16951165|PMID:17638870|REF_RGD_ID:2754551|REF_RGD_ID:2771824 11975331 ZNF250 zinc finger protein 250 gene DOID:630 genetic disease ISO RGD:1349906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11975342 BCO1 beta-carotene oxygenase 1 gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1346552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:28492532 11975342 BCO1 beta-carotene oxygenase 1 gene DOID:630 genetic disease ISO RGD:1346552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11975342 BCO1 beta-carotene oxygenase 1 gene DOID:9001798 Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant ISO RGD:1346552 D RGD:7240710 20180130 OMIM 11975342 BCO1 beta-carotene oxygenase 1 gene DOID:9001798 Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant ISO RGD:1346552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercarotenemia and vitamin a deficiency, autosomal dominant PMID:17951468|PMID:5453458 11975362 GORAB golgin, RAB6 interacting gene DOID:0111266 geroderma osteodysplasticum ISO RGD:1603372 D RGD:7240710 20180130 OMIM 11975362 GORAB golgin, RAB6 interacting gene DOID:0111266 geroderma osteodysplasticum ISO RGD:1603372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Geroderma osteodysplastica PMID:18997784|PMID:19681135|PMID:25741868|PMID:28492532|PMID:31829210|PMID:631850 11975362 GORAB golgin, RAB6 interacting gene DOID:11476 osteoporosis ISO RGD:1603372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18997784 11975362 GORAB golgin, RAB6 interacting gene DOID:1540 parathyroid carcinoma ISO RGD:1603372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11975362 GORAB golgin, RAB6 interacting gene DOID:630 genetic disease ISO RGD:1603372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18997784|PMID:19681135|PMID:28492532|PMID:28807865 11975362 GORAB golgin, RAB6 interacting gene DOID:9001946 Skin Abnormalities ISO RGD:1603372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18997784 11975362 GORAB golgin, RAB6 interacting gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1603372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 11975362 GORAB golgin, RAB6 interacting gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11975371 PNMA2 PNMA family member 2 gene DOID:630 genetic disease ISO RGD:1316357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11975381 EVI2B ecotropic viral integration site 2B gene DOID:0111253 neurofibromatosis 1 ISO RGD:1347396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10587576|PMID:10607834|PMID:10631140|PMID:10712197|PMID:10980545|PMID:11857752|PMID:12566521|PMID:12807981|PMID:14722914|PMID:15257518|PMID:1568247|PMID:16199547|PMID:16283621|PMID:16786508|PMID:18183042|PMID:18196300|PMID:19221814|PMID:20513137|PMID:22241097|PMID:22807134|PMID:22837079|PMID:23244495|PMID:23532973|PMID:23913538|PMID:24033266|PMID:24232412|PMID:24357598|PMID:24958239|PMID:25205021|PMID:25480383|PMID:25541118|PMID:25631097|PMID:25640679|PMID:25741868|PMID:26178382|PMID:26189818|PMID:26458495|PMID:26635368|PMID:26740943|PMID:27322474|PMID:27629806|PMID:28492532|PMID:30530636|PMID:33877690|PMID:8116612|PMID:8931693|PMID:9643287 11975381 EVI2B ecotropic viral integration site 2B gene DOID:1969 cerebral palsy ISO RGD:1347396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 11975381 EVI2B ecotropic viral integration site 2B gene DOID:630 genetic disease ISO RGD:1347396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11975381 EVI2B ecotropic viral integration site 2B gene DOID:9008086 Developmental Disabilities ISO RGD:1347396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 11975387 SLC44A3 solute carrier family 44 member 3 gene DOID:630 genetic disease ISO RGD:1602189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11975420 TG thyroglobulin gene DOID:0050328 congenital hypothyroidism ISO RGD:735819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:10404833|PMID:11484898|PMID:14764776|PMID:15769978|PMID:16199547|PMID:16403815|PMID:17532758|PMID:19837936|PMID:20410234|PMID:21128992|PMID:21372558|PMID:23164529|PMID:25741868|PMID:2584351|PMID:28492532|PMID:7593451|PMID:8325944|PMID:9588493 11975420 TG thyroglobulin gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:735819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:12872253|PMID:23996628|PMID:28492532 11975420 TG thyroglobulin gene DOID:0060870 isolated growth hormone deficiency ISO RGD:3848 D RGD:9068941 20200609 RGD PMID:11089535|PMID:3366187|REF_RGD_ID:12880373|REF_RGD_ID:730133 11975420 TG thyroglobulin gene DOID:0112183 familial thyroid dyshormonogenesis ISO RGD:735819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid dyshormonogenesis 11975420 TG thyroglobulin gene DOID:0112187 thyroid dyshormonogenesis 3 ISO RGD:735819 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 3 | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3 PMID:10199792|PMID:10403171|PMID:10404833|PMID:11484898|PMID:12915634|PMID:14657345|PMID:14764776|PMID:15579800|PMID:15611820|PMID:15769978|PMID:16187910|PMID:16187918|PMID:16199547|PMID:16403815|PMID:16477365|PMID:16720658|PMID:17033963|PMID:17244789|PMID:1752952|PMID:19339519|PMID:19438905|PMID:19837936|PMID:20410234|PMID:20447071|PMID:20981092|PMID:21128992|PMID:21372558|PMID:21900383|PMID:21958696|PMID:23164529|PMID:23455760|PMID:23457309|PMID:23535966|PMID:23933148|PMID:24033266|PMID:25741868|PMID:2584351|PMID:26595189|PMID:26742565|PMID:26777470|PMID:26813946|PMID:27373559|PMID:27498126|PMID:28492532|PMID:29590070|PMID:31042289|PMID:34248839|PMID:34780050|PMID:7593451|PMID:8094490|PMID:8325944|PMID:9588493 11975420 TG thyroglobulin gene DOID:0112187 thyroid dyshormonogenesis 3 susceptibility ISO RGD:735819 D RGD:7240710 20230505 OMIM 11975420 TG thyroglobulin gene DOID:10283 prostate cancer ISO RGD:735819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11975420 TG thyroglobulin gene DOID:12176 goiter ISO RGD:735819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24582622|PMID:8094490 11975420 TG thyroglobulin gene DOID:12176 goiter susceptibility ISO RGD:735819 D RGD:9068941 20200609 RGD associated with Hypothyroidism;DNA:deletion:exon PMID:1752952|REF_RGD_ID:1600141 11975420 TG thyroglobulin gene DOID:12361 Graves' disease ISO RGD:735819 D RGD:9068941 20200609 RGD PMID:14636875|REF_RGD_ID:8548606 11975420 TG thyroglobulin gene DOID:12361 Graves' disease ISO RGD:735819 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:intron:rs2256366, rs2687836 (human) PMID:22662162|REF_RGD_ID:8548643 11975420 TG thyroglobulin gene DOID:12361 Graves' disease ISO RGD:735819 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:95586|REF_RGD_ID:8548645 11975420 TG thyroglobulin gene DOID:12361 Graves' disease ISO RGD:735819 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 11975420 TG thyroglobulin gene DOID:12361 Graves' disease no_association ISO RGD:735819 D RGD:9068941 20200609 RGD DNA:SNPs:exon:multiple PMID:18656705|REF_RGD_ID:8548630 11975420 TG thyroglobulin gene DOID:12361 Graves' disease treatment ISO RGD:735819 D RGD:9068941 20200609 RGD DNA:SNP:exon PMID:17550957|REF_RGD_ID:8548644 11975420 TG thyroglobulin gene DOID:14264 benign neonatal seizures ISO RGD:735819 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:28492532|PMID:29383681|PMID:29852413 11975420 TG thyroglobulin gene DOID:1459 hypothyroidism ISO RGD:735819 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:25741868 11975420 TG thyroglobulin gene DOID:1459 hypothyroidism treatment ISO RGD:3848 D RGD:9068941 20211001 RGD PMID:16365524|REF_RGD_ID:150429798 11975420 TG thyroglobulin gene DOID:1596 depressive disorder ISO RGD:735819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30373627 11975420 TG thyroglobulin gene DOID:2030 anxiety disorder ISO RGD:735819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30373627 11975420 TG thyroglobulin gene DOID:417 autoimmune disease ISO RGD:735819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869686 11975420 TG thyroglobulin gene DOID:5426 primary ovarian insufficiency ISO RGD:735819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:16187910|PMID:28492532|PMID:31042289|PMID:8094490 11975420 TG thyroglobulin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast and ovarian cancer PMID:25741868 11975420 TG thyroglobulin gene DOID:630 genetic disease ISO RGD:735819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11975420 TG thyroglobulin gene DOID:7188 autoimmune thyroiditis ISO RGD:735819 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3 PMID:10403171|PMID:10404833|PMID:11484898|PMID:12915634|PMID:14657345|PMID:14764776|PMID:15579800|PMID:15769978|PMID:16477365|PMID:19339519|PMID:19438905|PMID:19837936|PMID:20410234|PMID:21128992|PMID:21372558|PMID:21757724|PMID:23164529|PMID:23535966|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28942902|PMID:29590070|PMID:34248839|PMID:34780050|PMID:8325944|PMID:9588493 11975420 TG thyroglobulin gene DOID:7188 autoimmune thyroiditis susceptibility ISO RGD:735819 D RGD:7240710 20230505 OMIM 11975420 TG thyroglobulin gene DOID:9006101 Primary Ovarian Failure ISO RGD:735819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ovarian failure PMID:16187910|PMID:28492532|PMID:31042289|PMID:8094490 11975420 TG thyroglobulin gene DOID:9006205 Animal Disease Models ISO RGD:735819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30373627 11975420 TG thyroglobulin gene DOID:9007355 Hashimoto Disease ISO RGD:3848 D RGD:9068941 20200609 RGD PMID:3052944|REF_RGD_ID:8548647 11975420 TG thyroglobulin gene DOID:9007355 Hashimoto Disease ISO RGD:735819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30373627 11975420 TG thyroglobulin gene DOID:9007355 Hashimoto Disease ISO RGD:735819 D RGD:9068941 20200609 RGD PMID:14636875|PMID:21559421|REF_RGD_ID:8548606|REF_RGD_ID:8548607 11975420 TG thyroglobulin gene DOID:9007355 Hashimoto Disease no_association ISO RGD:735819 D RGD:9068941 20200609 RGD DNA:SNPs:exon:multiple PMID:18656705|REF_RGD_ID:8548630 11975420 TG thyroglobulin gene DOID:9007661 Dwarfism ISO RGD:3848 D RGD:9068941 20201211 RGD PMID:10760744|REF_RGD_ID:13605608 11975420 TG thyroglobulin gene DOID:9007661 Dwarfism ISO RGD:735819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24582622 11975420 TG thyroglobulin gene DOID:9007661 Dwarfism treatment ISO RGD:3848 D RGD:9068941 20211001 RGD PMID:16365524|REF_RGD_ID:150429798 11975472 UBXN2B UBX domain protein 2B gene DOID:630 genetic disease ISO RGD:2299012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11975488 RITA1 RBPJ interacting and tubulin associated 1 gene DOID:630 genetic disease ISO RGD:1602853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11975498 ORC1 origin recognition complex subunit 1 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1350406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:11477602|PMID:14564153|PMID:21358631|PMID:21358632|PMID:21358633|PMID:22333897|PMID:22855792|PMID:23023959|PMID:23516378|PMID:24033266|PMID:25689043|PMID:25741868|PMID:28492532|PMID:819054 11975498 ORC1 origin recognition complex subunit 1 gene DOID:0080512 Meier-Gorlin syndrome 1 ISO RGD:1350406 D RGD:7240710 20190424 OMIM 11975498 ORC1 origin recognition complex subunit 1 gene DOID:0080512 Meier-Gorlin syndrome 1 ISO RGD:1350406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 PMID:11477602|PMID:14564153|PMID:18414213|PMID:21358631|PMID:21358632|PMID:21358633|PMID:22333897|PMID:22689986|PMID:22855792|PMID:23023959|PMID:23516378|PMID:24033266|PMID:25689043|PMID:25741868|PMID:28112645|PMID:28492532|PMID:31274184|PMID:33482836|PMID:819054 11975498 ORC1 origin recognition complex subunit 1 gene DOID:0080600 COVID-19 ISO RGD:1350406 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11975498 ORC1 origin recognition complex subunit 1 gene DOID:10907 microcephaly ISO RGD:1350406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21358633 11975498 ORC1 origin recognition complex subunit 1 gene DOID:630 genetic disease ISO RGD:1350406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11975498 ORC1 origin recognition complex subunit 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1350406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11975498 ORC1 origin recognition complex subunit 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1350406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21358633 11975498 ORC1 origin recognition complex subunit 1 gene DOID:9007661 Dwarfism ISO RGD:1350406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21358633 11975521 WDR64 WD repeat domain 64 gene DOID:0111261 fumarase deficiency ISO RGD:1605299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fumarase deficiency PMID:11865300|PMID:12761039|PMID:21398687|PMID:22069215|PMID:28300276|PMID:28492532 11975521 WDR64 WD repeat domain 64 gene DOID:1540 parathyroid carcinoma ISO RGD:1605299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11975521 WDR64 WD repeat domain 64 gene DOID:630 genetic disease ISO RGD:1605299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11975521 WDR64 WD repeat domain 64 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11975521 WDR64 WD repeat domain 64 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1605299 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 11975521 WDR64 WD repeat domain 64 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11975554 HUS1 HUS1 checkpoint clamp component gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11975554 HUS1 HUS1 checkpoint clamp component gene DOID:630 genetic disease ISO RGD:1318030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11975582 STAP1 signal transducing adaptor family member 1 gene DOID:13810 familial hypercholesterolemia ISO RGD:1603225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:26036859 11975582 STAP1 signal transducing adaptor family member 1 gene DOID:630 genetic disease ISO RGD:1603225 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11975582 STAP1 signal transducing adaptor family member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11975595 PLSCR1 phospholipid scramblase 1 gene DOID:0080600 COVID-19 ISO RGD:1350472 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11975595 PLSCR1 phospholipid scramblase 1 gene DOID:0080600 COVID-19 ISO RGD:1350472 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 11975595 PLSCR1 phospholipid scramblase 1 gene DOID:630 genetic disease ISO RGD:1350472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11975595 PLSCR1 phospholipid scramblase 1 gene DOID:9001488 Human Influenza ISO RGD:1350472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11975595 PLSCR1 phospholipid scramblase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11975647 YME1L1 YME1 like 1 ATPase gene DOID:0111436 optic atrophy 11 ISO RGD:733459 D RGD:7240710 20190315 OMIM 11975647 YME1L1 YME1 like 1 ATPase gene DOID:0111436 optic atrophy 11 ISO RGD:733459 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Optic atrophy 11 PMID:25741868|PMID:27495975|PMID:28492532 11975647 YME1L1 YME1 like 1 ATPase gene DOID:10907 microcephaly ISO RGD:733459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11975647 YME1L1 YME1 like 1 ATPase gene DOID:12930 dilated cardiomyopathy ISO RGD:733460 D RGD:9068941 20220825 MouseDO 11975647 YME1L1 YME1 like 1 ATPase gene DOID:2843 long QT syndrome ISO RGD:733459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11975647 YME1L1 YME1 like 1 ATPase gene DOID:630 genetic disease ISO RGD:733459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11975671 KDM5C lysine demethylase 5C gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1349337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:27799067 11975671 KDM5C lysine demethylase 5C gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11975671 KDM5C lysine demethylase 5C gene DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type ISO RGD:1349337 D RGD:7240710 20180130 OMIM 11975671 KDM5C lysine demethylase 5C gene DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type ISO RGD:1349337 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Claes-Jensen type PMID:10982473|PMID:15586325|PMID:1605217|PMID:16538222|PMID:16541399|PMID:17244608|PMID:18203167|PMID:18414213|PMID:18697827|PMID:19826449|PMID:21575681|PMID:23356856|PMID:25644381|PMID:25666439|PMID:25666757|PMID:25741868|PMID:25741873|PMID:27959697|PMID:28492532|PMID:28708303|PMID:29304373|PMID:31419599|PMID:32279304|PMID:34356104|PMID:36672956 11975671 KDM5C lysine demethylase 5C gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1349337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 11975671 KDM5C lysine demethylase 5C gene DOID:0112038 non-syndromic X-linked intellectual disability 1 ISO RGD:1349337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 PMID:26059843|PMID:28492532 11975671 KDM5C lysine demethylase 5C gene DOID:10534 stomach cancer ISO RGD:1349337 D RGD:9068941 20220303 RGD mRNA:increased expression:stomach (human) PMID:26858085|REF_RGD_ID:151361174 11975671 KDM5C lysine demethylase 5C gene DOID:1059 intellectual disability ISO RGD:1349337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25167861|PMID:25741868|PMID:32581362 11975671 KDM5C lysine demethylase 5C gene DOID:12190 descending colon cancer onset ISO RGD:1349337 D RGD:9068941 20220303 RGD associate with colorectal cancer;DNA:mutations:multiple (human) PMID:30018131|REF_RGD_ID:151361178 11975671 KDM5C lysine demethylase 5C gene DOID:12849 autistic disorder ISO RGD:1349337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11975671 KDM5C lysine demethylase 5C gene DOID:12858 Huntington's disease ISO RGD:1349337 D RGD:9068941 20200609 RGD mRNA:increased expression:caudate nucleus (human) PMID:23872847|REF_RGD_ID:9587806 11975671 KDM5C lysine demethylase 5C gene DOID:1612 breast cancer severity ISO RGD:1349337 D RGD:9068941 20200609 RGD mRNA:altered expression:breast (human) PMID:22199269|REF_RGD_ID:9586031 11975671 KDM5C lysine demethylase 5C gene DOID:1826 epilepsy ISO RGD:1349337 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11975671 KDM5C lysine demethylase 5C gene DOID:219 colon cancer ISO RGD:1349337 D RGD:9068941 20220303 RGD mRNA:increased expression:colon (human) PMID:33042830|REF_RGD_ID:151361176 11975671 KDM5C lysine demethylase 5C gene DOID:4450 renal cell carcinoma ISO RGD:1349337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 11975671 KDM5C lysine demethylase 5C gene DOID:4928 intrahepatic cholangiocarcinoma exacerbates ISO RGD:1349337 D RGD:9068941 20220303 RGD protein:decreased expression:bile duct (human) PMID:32714863|REF_RGD_ID:151361175 11975671 KDM5C lysine demethylase 5C gene DOID:5419 schizophrenia ISO RGD:1560601 D RGD:9068941 20200609 RGD protein:increased expression:prefrontal cortex (rat) PMID:23932495|REF_RGD_ID:9586022 11975671 KDM5C lysine demethylase 5C gene DOID:607 paraplegia ISO RGD:1349337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:15586325|PMID:16199547|PMID:18414213|PMID:18697827|PMID:22326837|PMID:23356856|PMID:23757202|PMID:24583395|PMID:24728327|PMID:25644381|PMID:25666439|PMID:25666757|PMID:25741868|PMID:25801821|PMID:26467025|PMID:26863999|PMID:26934580|PMID:27959697|PMID:28492532|PMID:29304373|PMID:29670509|PMID:32279304 11975671 KDM5C lysine demethylase 5C gene DOID:630 genetic disease ISO RGD:1349337 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15586325|PMID:1605217|PMID:17244608|PMID:17468742|PMID:18414213|PMID:18697827|PMID:19826449|PMID:20181063|PMID:23757202|PMID:24583395|PMID:24728327|PMID:25666439|PMID:25741868|PMID:26467025|PMID:27214403|PMID:28492532|PMID:28708303|PMID:31912665|PMID:32279304 11975671 KDM5C lysine demethylase 5C gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1349337 D RGD:9068941 20220303 RGD protein:increased expression:liver (human) PMID:26503415|REF_RGD_ID:11530160 11975671 KDM5C lysine demethylase 5C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11975671 KDM5C lysine demethylase 5C gene DOID:9004507 Hirsutism ISO RGD:1349337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirsutism 11975671 KDM5C lysine demethylase 5C gene DOID:9004603 Atkin Syndrome ISO RGD:1349337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome PMID:26059843|PMID:28492532 11975671 KDM5C lysine demethylase 5C gene DOID:9005219 Abnormal Reflexes ISO RGD:1349337 D RGD:9068941 20200609 RGD DNA:missense mutations, frameshift mutations:multiple (human) PMID:18697827|REF_RGD_ID:9587807 11975671 KDM5C lysine demethylase 5C gene DOID:9008582 Developmental Disease ISO RGD:1349337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:28708303 11975671 KDM5C lysine demethylase 5C gene DOID:9256 colorectal cancer ISO RGD:1349337 D RGD:9068941 20220303 RGD mRNA:increased expression:colorectum (human) PMID:32552762|REF_RGD_ID:151361177 11975671 KDM5C lysine demethylase 5C gene DOID:9538 multiple myeloma ISO RGD:1349337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11975732 IFT52 intraflagellar transport 52 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1322228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:27466190|PMID:28492532|PMID:29068549 11975732 IFT52 intraflagellar transport 52 gene DOID:2234 focal epilepsy ISO RGD:1322228 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11975732 IFT52 intraflagellar transport 52 gene DOID:630 genetic disease ISO RGD:1322228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11975732 IFT52 intraflagellar transport 52 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1322228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11975732 IFT52 intraflagellar transport 52 gene DOID:9006222 Short-Rib Thoracic Dysplasia 16 with or without Polydactyly ISO RGD:1322228 D RGD:7240710 20190315 OMIM 11975732 IFT52 intraflagellar transport 52 gene DOID:9006222 Short-Rib Thoracic Dysplasia 16 with or without Polydactyly ISO RGD:1322228 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 16 with or without polydactyly PMID:25741868|PMID:26880018|PMID:27466190|PMID:28492532|PMID:30242358|PMID:31042281 11975732 IFT52 intraflagellar transport 52 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11975756 EZHIP EZH inhibitory protein gene DOID:12849 autistic disorder ISO RGD:1603340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11975761 SERPIND1 serpin family D member 1 gene DOID:0050117 disease by infectious agent ISO RGD:732320 D RGD:9068941 20200609 RGD associated with Disseminated Intravascular Coagulation;protein:decreased expression:plasma (human) PMID:12361205|REF_RGD_ID:1580300 11975761 SERPIND1 serpin family D member 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:732320 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 11975761 SERPIND1 serpin family D member 1 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:732320 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 11975761 SERPIND1 serpin family D member 1 gene DOID:0111901 heparin cofactor II deficiency ISO RGD:732320 D RGD:7240710 20180130 OMIM 11975761 SERPIND1 serpin family D member 1 gene DOID:0111901 heparin cofactor II deficiency ISO RGD:732320 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Heparin cofactor II deficiency | ClinVar Annotator: match by term: Thrombotic stroke PMID:11204559|PMID:25741868|PMID:2647747|PMID:28492532|PMID:31064749|PMID:34355501|PMID:8562924|PMID:8902986 11975761 SERPIND1 serpin family D member 1 gene DOID:1059 intellectual disability ISO RGD:732320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11975761 SERPIND1 serpin family D member 1 gene DOID:11198 DiGeorge syndrome ISO RGD:732320 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 11975761 SERPIND1 serpin family D member 1 gene DOID:11372 megacolon ISO RGD:732320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11975761 SERPIND1 serpin family D member 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:732320 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 11975761 SERPIND1 serpin family D member 1 gene DOID:12849 autistic disorder ISO RGD:732320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11975761 SERPIND1 serpin family D member 1 gene DOID:13252 mesenteric vascular occlusion ISO RGD:732320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1831893 11975761 SERPIND1 serpin family D member 1 gene DOID:1826 epilepsy ISO RGD:732320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11975761 SERPIND1 serpin family D member 1 gene DOID:2213 hemorrhagic disease ISO RGD:732320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 11975761 SERPIND1 serpin family D member 1 gene DOID:2452 thrombophilia ISO RGD:732320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2214444 11975761 SERPIND1 serpin family D member 1 gene DOID:3410 carotid artery thrombosis ISO RGD:732320 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11805133 11975761 SERPIND1 serpin family D member 1 gene DOID:5419 schizophrenia ISO RGD:732320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11975761 SERPIND1 serpin family D member 1 gene DOID:612 primary immunodeficiency disease ISO RGD:732320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11975761 SERPIND1 serpin family D member 1 gene DOID:630 genetic disease ISO RGD:732320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11975761 SERPIND1 serpin family D member 1 gene DOID:9003505 Venous Thromboembolism ISO RGD:732320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1831893 11975761 SERPIND1 serpin family D member 1 gene DOID:9003871 Venous Thrombosis ISO RGD:732320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 11975761 SERPIND1 serpin family D member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11975761 SERPIND1 serpin family D member 1 gene DOID:9007661 Dwarfism ISO RGD:732320 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11975770 TMEM67 transmembrane protein 67 gene DOID:0050545 visceral heterotaxy ISO RGD:1316347 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 11975770 TMEM67 transmembrane protein 67 gene DOID:0050777 Joubert syndrome ISO RGD:1606753 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:10567047|PMID:12368986|PMID:16199547|PMID:16541367|PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:19763152|PMID:20232449|PMID:20307669|PMID:20607301|PMID:21068128|PMID:21493627|PMID:21633164|PMID:21866095|PMID:22406018|PMID:23034536|PMID:23351400|PMID:23559409|PMID:24033266|PMID:24039893|PMID:25326635|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26123494|PMID:26191240|PMID:26467025|PMID:26546361|PMID:26729329|PMID:27434533|PMID:27457812|PMID:27491411|PMID:28125082|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28719906|PMID:28771248|PMID:28973083|PMID:29127258|PMID:29146704|PMID:2929661|PMID:29568536|PMID:29891882|PMID:29947050|PMID:29974258|PMID:30455918|PMID:31019026|PMID:31411728|PMID:31589614|PMID:31738409|PMID:32000717|PMID:32404165|PMID:33532864|PMID:34032358|PMID:34645491|PMID:34675960|PMID:34964473|PMID:8862632|PMID:9375913|PMID:9536098 11975770 TMEM67 transmembrane protein 67 gene DOID:0050778 Meckel syndrome ISO RGD:1606753 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:17160906|PMID:17377820|PMID:17397051|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21493627|PMID:21866095|PMID:23559409|PMID:24033266|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:29127258|PMID:29146704|PMID:29891882|PMID:9375913 11975770 TMEM67 transmembrane protein 67 gene DOID:0050952 spastic ataxia ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 11975770 TMEM67 transmembrane protein 67 gene DOID:0060340 ciliopathy ISO RGD:1606753 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ciliopathy PMID:25741868|PMID:28492532|PMID:28771248 11975770 TMEM67 transmembrane protein 67 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1606753 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 PMID:17377820|PMID:17397051|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:24033266|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28492532|PMID:29891882|PMID:9375913 11975770 TMEM67 transmembrane protein 67 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1606753 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome PMID:17160906|PMID:17377820|PMID:17397051|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28289063|PMID:28431631|PMID:28492532|PMID:29127258|PMID:29146704|PMID:29891882|PMID:9375913 11975770 TMEM67 transmembrane protein 67 gene DOID:0070117 Meckel syndrome 3 ISO RGD:1606753 D RGD:7240710 20180130 OMIM 11975770 TMEM67 transmembrane protein 67 gene DOID:0070117 Meckel syndrome 3 ISO RGD:1606753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 3 | ClinVar Annotator: match by term: Meckel syndrome, type 3 PMID:16199547|PMID:16415887|PMID:16541367|PMID:17160906|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21633164|PMID:21866095|PMID:22121117|PMID:23351400|PMID:23559409|PMID:25326635|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26123494|PMID:26467025|PMID:26546361|PMID:26729329|PMID:28125082|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28771248|PMID:28973083|PMID:29127258|PMID:29146704|PMID:2929661|PMID:29891882|PMID:29974258|PMID:31411728|PMID:34032358|PMID:34675960|PMID:9375913|PMID:9536098 11975770 TMEM67 transmembrane protein 67 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1606753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868|PMID:28492532 11975770 TMEM67 transmembrane protein 67 gene DOID:0110136 Bardet-Biedl syndrome 14 ISO RGD:1606753 D RGD:7240710 20180130 OMIM 11975770 TMEM67 transmembrane protein 67 gene DOID:0110136 Bardet-Biedl syndrome 14 ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 PMID:17397051|PMID:18327255|PMID:18414213|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28492532|PMID:29127258 11975770 TMEM67 transmembrane protein 67 gene DOID:0110136 Bardet-Biedl syndrome 14 ISO RGD:1606753 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 14, modifier of PMID:17377820|PMID:17397051|PMID:18327255|PMID:18414213|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28492532|PMID:29127258|PMID:29146704|PMID:29891882|PMID:9375913 11975770 TMEM67 transmembrane protein 67 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1586167 D RGD:9068941 20201211 RGD PMID:11095650|PMID:15052665|PMID:30705305|REF_RGD_ID:1300514|REF_RGD_ID:14995942|REF_RGD_ID:15014788 11975770 TMEM67 transmembrane protein 67 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1606753 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:17160906|PMID:17377820|PMID:17397051|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28289063|PMID:28431631|PMID:28492532|PMID:29127258|PMID:29146704|PMID:29891882|PMID:9375913 11975770 TMEM67 transmembrane protein 67 gene DOID:0111001 Joubert syndrome 6 ISO RGD:1606753 D RGD:7240710 20180130 OMIM 11975770 TMEM67 transmembrane protein 67 gene DOID:0111001 Joubert syndrome 6 ISO RGD:1606753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 6 PMID:10567047|PMID:12368986|PMID:16199547|PMID:16541367|PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21633164|PMID:21866095|PMID:23351400|PMID:23559409|PMID:25326635|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26467025|PMID:26729329|PMID:27434533|PMID:27457812|PMID:27491411|PMID:28125082|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28508964|PMID:28719906|PMID:28771248|PMID:28973083|PMID:29127258|PMID:29146704|PMID:2929661|PMID:29568536|PMID:29891882|PMID:29974258|PMID:30055837|PMID:30455918|PMID:31019026|PMID:31319225|PMID:31589614|PMID:31738409|PMID:32000717|PMID:32404165|PMID:34645491|PMID:34675960|PMID:34964473|PMID:36617405|PMID:8862632|PMID:9375913|PMID:9536098 11975770 TMEM67 transmembrane protein 67 gene DOID:0111112 nephronophthisis 1 ISO RGD:1606753 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:17160906|PMID:18327255|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28289063|PMID:28492532 11975770 TMEM67 transmembrane protein 67 gene DOID:0111118 nephronophthisis 11 ISO RGD:1606753 D RGD:7240710 20180130 OMIM 11975770 TMEM67 transmembrane protein 67 gene DOID:0111118 nephronophthisis 11 ISO RGD:1606753 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis 11 PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26467025|PMID:26729329|PMID:28289063|PMID:28492532|PMID:28771248|PMID:29127258|PMID:29146704|PMID:29891882|PMID:29974258|PMID:33532864|PMID:9375913|PMID:9536098 11975770 TMEM67 transmembrane protein 67 gene DOID:0111589 COACH syndrome ISO RGD:1606753 D RGD:9068941 20201203 RGD DNA:missense mutations: :multiple PMID:19058225|PMID:19574260|REF_RGD_ID:11535944|REF_RGD_ID:11535946 11975770 TMEM67 transmembrane protein 67 gene DOID:0111589 COACH syndrome ISO RGD:1606753 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism 11975770 TMEM67 transmembrane protein 67 gene DOID:1059 intellectual disability ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 11975770 TMEM67 transmembrane protein 67 gene DOID:10907 microcephaly ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11975770 TMEM67 transmembrane protein 67 gene DOID:10908 hydrocephalus ISO RGD:1586167 D RGD:9068941 20201211 RGD PMID:15052665|PMID:30705305|REF_RGD_ID:14995942|REF_RGD_ID:15014788 11975770 TMEM67 transmembrane protein 67 gene DOID:12215 oligohydramnios ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligohydramnios | ClinVar Annotator: match by term: anhydramnios PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532|PMID:35005812 11975770 TMEM67 transmembrane protein 67 gene DOID:12270 coloboma ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coloboma of eye | ClinVar Annotator: match by term: Congenital ocular coloboma PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23351400|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 11975770 TMEM67 transmembrane protein 67 gene DOID:12712 nephronophthisis ISO RGD:1606753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:17160906|PMID:17397051|PMID:18327255|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28289063|PMID:28492532|PMID:28497568|PMID:29568536 11975770 TMEM67 transmembrane protein 67 gene DOID:1573 communicating hydrocephalus ISO RGD:1586167 D RGD:9068941 20200609 RGD PMID:30705305|REF_RGD_ID:14995942 11975770 TMEM67 transmembrane protein 67 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606753 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16415887|PMID:25741868 11975770 TMEM67 transmembrane protein 67 gene DOID:2975 cystic kidney disease ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystic kidney disease PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 11975770 TMEM67 transmembrane protein 67 gene DOID:4989 pancreatitis ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatitis PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 11975770 TMEM67 transmembrane protein 67 gene DOID:5082 liver cirrhosis ISO RGD:1606753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19508969 11975770 TMEM67 transmembrane protein 67 gene DOID:557 kidney disease ISO RGD:1606753 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:17160906|PMID:18327255|PMID:18414213|PMID:25741868|PMID:28289063|PMID:28492532|PMID:29127258 11975770 TMEM67 transmembrane protein 67 gene DOID:576 proteinuria ISO RGD:1586167 D RGD:9068941 20201211 RGD compared to RGD:14995941 PMID:11095650|REF_RGD_ID:1300514 11975770 TMEM67 transmembrane protein 67 gene DOID:630 genetic disease ISO RGD:1606753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23351400|PMID:23559409|PMID:25326635|PMID:25741868|PMID:26035863|PMID:26092869|PMID:27491411|PMID:28492532|PMID:28719906 11975770 TMEM67 transmembrane protein 67 gene DOID:8283 peritonitis ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peritonitis PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 11975770 TMEM67 transmembrane protein 67 gene DOID:9000343 Vision Disorders ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 11975770 TMEM67 transmembrane protein 67 gene DOID:9000495 Tremor ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 11975770 TMEM67 transmembrane protein 67 gene DOID:9000639 COACH Syndrome 1 ISO RGD:1606753 D RGD:7240710 20201202 OMIM 11975770 TMEM67 transmembrane protein 67 gene DOID:9000639 COACH Syndrome 1 ISO RGD:1606753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COACH syndrome 1 PMID:12368986|PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21633164|PMID:21866095|PMID:23351400|PMID:23559409|PMID:24033266|PMID:25326635|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26467025|PMID:26729329|PMID:27434533|PMID:27491411|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28719906|PMID:28771248|PMID:28973083|PMID:29127258|PMID:29146704|PMID:2929661|PMID:29568536|PMID:29891882|PMID:29974258|PMID:36617405|PMID:8862632|PMID:9375913|PMID:9536098 11975770 TMEM67 transmembrane protein 67 gene DOID:9001575 IRIS COLOBOMA ISO RGD:1606753 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Iris coloboma PMID:20232449|PMID:23559409|PMID:24033266|PMID:25741868|PMID:26729329|PMID:28492532 11975770 TMEM67 transmembrane protein 67 gene DOID:9005786 RHYNS Syndrome ISO RGD:1606753 D RGD:7240710 20221207 OMIM 11975770 TMEM67 transmembrane protein 67 gene DOID:9005786 RHYNS Syndrome ISO RGD:1606753 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RHYNS syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa syndrome PMID:17377820|PMID:17397051|PMID:18327255|PMID:18414213|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28492532|PMID:29127258|PMID:29146704|PMID:29891882|PMID:9375913 11975770 TMEM67 transmembrane protein 67 gene DOID:9006534 Nervous System Malformations ISO RGD:1606753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:19574260|PMID:23559409|PMID:25741868|PMID:26092869|PMID:27491411|PMID:28492532|PMID:28719906 11975770 TMEM67 transmembrane protein 67 gene DOID:9008086 Developmental Disabilities ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 11975770 TMEM67 transmembrane protein 67 gene DOID:9650 pathologic nystagmus ISO RGD:1606753 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 11975831 LOC100974844 Fc receptor-like protein 6 gene DOID:0080600 COVID-19 ISO RGD:1606397 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11975831 LOC100974844 Fc receptor-like protein 6 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1606397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11975831 LOC100974844 Fc receptor-like protein 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1606397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11975831 LOC100974844 Fc receptor-like protein 6 gene DOID:630 genetic disease ISO RGD:1606397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11975831 LOC100974844 Fc receptor-like protein 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11975856 RAD51D RAD51 paralog D gene DOID:0070271 Lynch syndrome 1 ISO RGD:1315846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:21822267|PMID:25741868|PMID:26261251|PMID:26467025|PMID:28492532|PMID:29371908|PMID:31159747 11975856 RAD51D RAD51 paralog D gene DOID:10534 stomach cancer ISO RGD:1315846 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10749867|PMID:14704354|PMID:19327148|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24240112|PMID:25445424|PMID:25452441|PMID:25741868|PMID:26046366|PMID:26057125|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26659639|PMID:26681312|PMID:27083178|PMID:27093186|PMID:27978560|PMID:28008555|PMID:28423363|PMID:28492532|PMID:28724667|PMID:29020732|PMID:29255180|PMID:29348823|PMID:29360550|PMID:29409816|PMID:29566657|PMID:30103829|PMID:30111881|PMID:30322717|PMID:31300551|PMID:31843900|PMID:32029870|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32566746|PMID:32885271|PMID:32980694|PMID:33471991|PMID:33504652|PMID:34838098|PMID:36988593 11975856 RAD51D RAD51 paralog D gene DOID:1520 colon carcinoma ISO RGD:1315846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:25741868|PMID:28492532 11975856 RAD51D RAD51 paralog D gene DOID:1612 breast cancer ISO RGD:1315846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10749867|PMID:14704354|PMID:15170666|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:30086788|PMID:30111881|PMID:30374176|PMID:30651582|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32107557|PMID:32295079|PMID:32566746 11975856 RAD51D RAD51 paralog D gene DOID:1612 breast cancer ISO RGD:1315846 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10749867|PMID:14704354|PMID:15170666|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:30086788|PMID:30111881|PMID:30374176|PMID:30651582|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32107557|PMID:32295079|PMID:32566746|PMID:32885271 11975856 RAD51D RAD51 paralog D gene DOID:1612 breast cancer ISO RGD:1315846 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10749867|PMID:14704354|PMID:15170666|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:30086788|PMID:30111881|PMID:30374176|PMID:30651582|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32338768|PMID:32426482|PMID:32566746|PMID:32885271|PMID:33471991|PMID:34200360 11975856 RAD51D RAD51 paralog D gene DOID:1612 breast cancer ISO RGD:1315846 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, protection against | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10749867|PMID:14704354|PMID:15170666|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:30086788|PMID:30111881|PMID:30165555|PMID:30374176|PMID:30651582|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32566746|PMID:32756499|PMID:32885271|PMID:33471991|PMID:34200360 11975856 RAD51D RAD51 paralog D gene DOID:1612 breast cancer ISO RGD:1315846 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10749867|PMID:14704354|PMID:15170666|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:30086788|PMID:30111881|PMID:30165555|PMID:30374176|PMID:30651582|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32566746|PMID:32756499|PMID:32885271|PMID:33471991|PMID:34117267|PMID:34200360 11975856 RAD51D RAD51 paralog D gene DOID:1612 breast cancer ISO RGD:1315846 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:30086788|PMID:30111881|PMID:30165555|PMID:30374176|PMID:30651582|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32885271|PMID:33471991|PMID:33630411|PMID:34117267|PMID:34200360|PMID:34606182|PMID:35565380|PMID:35710434|PMID:36988593 11975856 RAD51D RAD51 paralog D gene DOID:3459 breast carcinoma ISO RGD:1315846 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:21822267|PMID:25741868|PMID:26720727|PMID:26720728|PMID:28492532|PMID:28724667|PMID:30165555 11975856 RAD51D RAD51 paralog D gene DOID:4001 ovarian carcinoma ISO RGD:1315846 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:16199547|PMID:21822267|PMID:25741868|PMID:26720727|PMID:26720728|PMID:28492532|PMID:28724667|PMID:30165555|PMID:32107557 11975856 RAD51D RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:30086788|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32863928|PMID:32980694|PMID:33151324|PMID:33430302|PMID:33471991|PMID:6329717|PMID:9536098 11975856 RAD51D RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:30086788|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33151324|PMID:33430302|PMID:33471991|PMID:6329717|PMID:9536098 11975856 RAD51D RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27854218|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29625052|PMID:30086788|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33151324|PMID:33430302|PMID:33471991|PMID:34200360|PMID:6329717|PMID:9536098 11975856 RAD51D RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29753700|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33151324|PMID:33430302|PMID:33471991|PMID:33901219|PMID:34200360|PMID:34923718|PMID:6329717|PMID:9536098 11975856 RAD51D RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29753700|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33151324|PMID:33430302|PMID:33471991|PMID:33901219|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:6329717|PMID:9536098 11975856 RAD51D RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33901219|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:6329717|PMID:9536098 11975856 RAD51D RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33504652|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:35565380|PMID:6329717|PMID:9536098 11975856 RAD51D RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33504652|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35565380|PMID:6329717|PMID:9536098 11975856 RAD51D RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33504652|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098 11975856 RAD51D RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome susceptibility ISO RGD:1315846 D RGD:7240710 20190502 OMIM 11975856 RAD51D RAD51 paralog D gene DOID:9002762 Ovarian Neoplasms ISO RGD:1315846 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:10749867|PMID:14704354|PMID:16199547|PMID:19327148|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24240112|PMID:25445424|PMID:25452441|PMID:25741868|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26659639|PMID:26681312|PMID:26822949|PMID:27083178|PMID:27153395|PMID:27273131|PMID:28008555|PMID:28423363|PMID:28492532|PMID:28724667|PMID:28821472|PMID:28874143|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29348823|PMID:29409816|PMID:29566657|PMID:30111881|PMID:30165555|PMID:30927251|PMID:30980208|PMID:31300551|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32566746|PMID:32885271|PMID:33471991|PMID:36988593 11975856 RAD51D RAD51 paralog D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11975856 RAD51D RAD51 paralog D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315846 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29753700|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32566746|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33471991|PMID:33901219|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:6329717|PMID:9536098 11975856 RAD51D RAD51 paralog D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315846 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33471991|PMID:33901219|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:6329717|PMID:9536098 11975856 RAD51D RAD51 paralog D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33471991|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:35565380|PMID:6329717|PMID:9536098 11975856 RAD51D RAD51 paralog D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33471991|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35565380|PMID:6329717|PMID:9536098 11975856 RAD51D RAD51 paralog D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315846 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098 11975856 RAD51D RAD51 paralog D gene DOID:9008165 Chromosome Deletion ISO RGD:1315846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27924006 11975856 RAD51D RAD51 paralog D gene DOID:9008952 Breast Cancer, Familial ISO RGD:1315846 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16199547|PMID:21822267|PMID:25741868|PMID:28492532|PMID:32107557 11975856 RAD51D RAD51 paralog D gene DOID:9256 colorectal cancer ISO RGD:1315846 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:20665887|PMID:21822267|PMID:22986143|PMID:24130102|PMID:24240112|PMID:25445424|PMID:25741868|PMID:26057125|PMID:26467025|PMID:26659639|PMID:26681312|PMID:27083178|PMID:28423363|PMID:28492532|PMID:29409816|PMID:32295079|PMID:32359370|PMID:36988593 11975882 CDK19 cyclin dependent kinase 19 gene DOID:0112221 developmental and epileptic encephalopathy 87 ISO RGD:1343762 D RGD:7240710 20200701 OMIM 11975882 CDK19 cyclin dependent kinase 19 gene DOID:0112221 developmental and epileptic encephalopathy 87 ISO RGD:1343762 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 87 PMID:25741868|PMID:32330417|PMID:33134521|PMID:33495529|PMID:33568421 11975882 CDK19 cyclin dependent kinase 19 gene DOID:10907 microcephaly ISO RGD:1343762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11975882 CDK19 cyclin dependent kinase 19 gene DOID:630 genetic disease ISO RGD:1343762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32330417 11975882 CDK19 cyclin dependent kinase 19 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1305435 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord PMID:18008145|REF_RGD_ID:2316019 11975882 CDK19 cyclin dependent kinase 19 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11975907 PSMA6 proteasome 20S subunit alpha 6 gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:736338 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 PMID:28492532 11975907 PSMA6 proteasome 20S subunit alpha 6 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:736338 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11975907 PSMA6 proteasome 20S subunit alpha 6 gene DOID:5844 myocardial infarction ISO RGD:736338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:16845397|PMID:19282875 11975907 PSMA6 proteasome 20S subunit alpha 6 gene DOID:5844 myocardial infarction susceptibility ISO RGD:736338 D RGD:7240710 20190502 OMIM 11975907 PSMA6 proteasome 20S subunit alpha 6 gene DOID:630 genetic disease ISO RGD:736338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11975907 PSMA6 proteasome 20S subunit alpha 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:736338 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0050427 xeroderma pigmentosum ISO RGD:1319264 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:10447254|PMID:11285194|PMID:11319176|PMID:11335038|PMID:11443545|PMID:11710928|PMID:11734544|PMID:12820975|PMID:15982307|PMID:16111488|PMID:16199547|PMID:16707649|PMID:17403617|PMID:17576681|PMID:18191955|PMID:18470933|PMID:18510925|PMID:18578568|PMID:18637129|PMID:19085937|PMID:19934020|PMID:22234153|PMID:22826098|PMID:23221806|PMID:23232694|PMID:23382212|PMID:23800062|PMID:24033266|PMID:24252196|PMID:24448499|PMID:24514865|PMID:24728327|PMID:25002996|PMID:25431422|PMID:25716912|PMID:25741868|PMID:26344056|PMID:26467025|PMID:26556299|PMID:26577220|PMID:26689913|PMID:26884178|PMID:26957611|PMID:27004399|PMID:27085493|PMID:27396511|PMID:27504877|PMID:28492532|PMID:29178624|PMID:29478780|PMID:29607586|PMID:29625052|PMID:29754767|PMID:30136158|PMID:30919937|PMID:31937902|PMID:31980526|PMID:32830346|PMID:33095795|PMID:33199492|PMID:34308104|PMID:35477182|PMID:36033485|PMID:7585650|PMID:7849702|PMID:7920640|PMID:8571952|PMID:9195225|PMID:9238033|PMID:9536098|PMID:9758621 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0050908 myelodysplastic syndrome ISO RGD:1319264 D RGD:9068941 20200609 RGD PMID:25154760|REF_RGD_ID:11252197 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNP: :p.K751Q (rs13181) (human) PMID:26482462|REF_RGD_ID:11075607 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1319264 D RGD:9068941 20200609 RGD trichothiodystrophy,OMIM:601675;DNA:point mutation:exon:A725P PMID:9195225|REF_RGD_ID:1601069 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0080911 cerebrooculofacioskeletal syndrome 1 ISO RGD:1319264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1 PMID:24728327|PMID:25741868|PMID:28492532 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0080912 cerebrooculofacioskeletal syndrome 2 ISO RGD:1319264 D RGD:7240710 20180130 OMIM 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0080912 cerebrooculofacioskeletal syndrome 2 ISO RGD:1319264 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2 PMID:11242112|PMID:11335038|PMID:11443545|PMID:11585917|PMID:11709541|PMID:11710928|PMID:11734544|PMID:12820975|PMID:15494306|PMID:15534626|PMID:16054878|PMID:18470933|PMID:18510924|PMID:18510925|PMID:18637129|PMID:18709642|PMID:19085937|PMID:19434073|PMID:19470925|PMID:19931493|PMID:19934020|PMID:20633800|PMID:20944642|PMID:22234153|PMID:22826098|PMID:23039039|PMID:23221806|PMID:23232694|PMID:23800062|PMID:24033266|PMID:24252196|PMID:24418926|PMID:24448499|PMID:24514865|PMID:24728327|PMID:25002996|PMID:25431422|PMID:25620205|PMID:25741868|PMID:26344056|PMID:26556299|PMID:26577220|PMID:26884178|PMID:27004399|PMID:27396511|PMID:27504877|PMID:28492532|PMID:28749383|PMID:29169765|PMID:29478780|PMID:31282071|PMID:31803976|PMID:31937902|PMID:32047639|PMID:32830346|PMID:33095795|PMID:7585650|PMID:7920640|PMID:8571952|PMID:9195225|PMID:9238033|PMID:9651581 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0110698 hypotrichosis 1 ISO RGD:1319264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypotrichosis simplex PMID:19931493|PMID:20944642|PMID:23039039|PMID:23232694|PMID:24033266|PMID:25620205|PMID:25741868|PMID:28492532|PMID:31282071|PMID:31803976|PMID:7920640|PMID:8571952|PMID:9238033|PMID:9651581 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0110845 xeroderma pigmentosum group D ISO RGD:1319264 D RGD:7240710 20180130 OMIM 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0110845 xeroderma pigmentosum group D ISO RGD:1319264 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: XP4 XERODERMA PIGMENTOSUM VIII | ClinVar Annotator: match by term: Xeroderma pigmentosum, group D PMID:11156600|PMID:11285194|PMID:11319176|PMID:11335038|PMID:11443545|PMID:11709541|PMID:11710928|PMID:11734544|PMID:12458209|PMID:12820975|PMID:15494306|PMID:15534626|PMID:15982307|PMID:16054878|PMID:16111488|PMID:16199547|PMID:16707649|PMID:17403617|PMID:17576681|PMID:18191955|PMID:18510924|PMID:18510925|PMID:18637129|PMID:18709642|PMID:19085937|PMID:19434073|PMID:19470925|PMID:19931493|PMID:19934020|PMID:20633800|PMID:20944642|PMID:22234153|PMID:22572993|PMID:22826098|PMID:23039039|PMID:23221806|PMID:23232694|PMID:23276657|PMID:23800062|PMID:24033266|PMID:24252196|PMID:24418926|PMID:24448499|PMID:24728327|PMID:25431422|PMID:25620205|PMID:25716912|PMID:25741868|PMID:26344056|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26884178|PMID:27004399|PMID:27085493|PMID:27396511|PMID:27504877|PMID:28376765|PMID:28492532|PMID:29169765|PMID:29178624|PMID:29478780|PMID:29607586|PMID:29754767|PMID:30136158|PMID:31282071|PMID:31803976|PMID:31937902|PMID:31980526|PMID:32047639|PMID:32830346|PMID:33095795|PMID:33199492|PMID:34308104|PMID:35477182|PMID:36033485|PMID:7585650|PMID:7849702|PMID:7920640|PMID:8571952|PMID:9101292|PMID:9195225|PMID:9238033|PMID:9536098|PMID:9651581|PMID:9758621 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0111866 trichothiodystrophy ISO RGD:1319264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PIBIDS syndrome | ClinVar Annotator: match by term: Trichothiodystrophy PMID:15982307|PMID:19931493|PMID:20944642|PMID:22234153|PMID:23039039|PMID:23221806|PMID:23232694|PMID:24033266|PMID:24728327|PMID:25620205|PMID:25716912|PMID:25741868|PMID:26884178|PMID:27504877|PMID:28492532|PMID:29607586|PMID:31282071|PMID:31803976|PMID:7585650|PMID:7920640|PMID:8571952|PMID:9195225|PMID:9238033|PMID:9651581 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0111873 photosensitive trichothiodystrophy 1 ISO RGD:1319264 D RGD:7240710 20180130 OMIM 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0111873 photosensitive trichothiodystrophy 1 ISO RGD:1319264 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive PMID:11242112|PMID:11335038|PMID:11443545|PMID:11585917|PMID:11709541|PMID:11734544|PMID:12820975|PMID:15982307|PMID:16199547|PMID:17576681|PMID:18470933|PMID:19085937|PMID:19434073|PMID:19470925|PMID:19931493|PMID:19934020|PMID:20944642|PMID:22234153|PMID:22826098|PMID:23039039|PMID:23221806|PMID:23232694|PMID:23800062|PMID:24033266|PMID:24514865|PMID:24728327|PMID:25002996|PMID:25431422|PMID:25620205|PMID:25716912|PMID:25741868|PMID:26344056|PMID:26577220|PMID:26884178|PMID:27085493|PMID:27396511|PMID:27504877|PMID:28492532|PMID:29607586|PMID:29625052|PMID:29754767|PMID:30136158|PMID:31282071|PMID:31803976|PMID:31980526|PMID:34308104|PMID:35477182|PMID:36033485|PMID:7585650|PMID:7849702|PMID:7920640|PMID:8571952|PMID:9195225|PMID:9238033|PMID:9536098|PMID:9651581|PMID:9758621 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:10283 prostate cancer susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.D312N (human) PMID:17695467|REF_RGD_ID:5688739 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:10283 prostate cancer susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.R156R(human) PMID:24649009|REF_RGD_ID:8657136 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:10534 stomach cancer ameliorates ISO RGD:1319264 D RGD:9068941 20221006 RGD mRNA:increased expression:stomach (human) PMID:30417012|REF_RGD_ID:155260342 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:10534 stomach cancer disease_progression ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.K751Q (2251A>C) (rs13181) (human) PMID:26499900|REF_RGD_ID:11340202 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:10534 stomach cancer exacerbates ISO RGD:1319264 D RGD:9068941 20221006 RGD DNA:SNP:intron: (rs50871) (human) PMID:27340861|REF_RGD_ID:155260339 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:10581 metachromatic leukodystrophy ISO RGD:1319264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy variant PMID:11335038|PMID:11709541|PMID:19085937|PMID:19934020|PMID:20633800|PMID:24728327|PMID:25741868|PMID:27504877|PMID:28492532|PMID:9238033 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:10652 Alzheimer's disease ISO RGD:1319264 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:9714461|REF_RGD_ID:5688738 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:11054 urinary bladder cancer ISO RGD:1319264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121791|PMID:27111033 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1319264 D RGD:9068941 20200609 RGD PMID:25316812|REF_RGD_ID:11252208 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:11088 asphyxia neonatorum ISO RGD:1309109 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:9763211|REF_RGD_ID:2302855 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:12603 acute leukemia ISO RGD:1319264 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified PMID:15982307|PMID:22234153|PMID:23221806|PMID:23232694|PMID:24728327|PMID:25716912|PMID:25741868|PMID:26884178|PMID:27504877|PMID:28492532|PMID:29607586|PMID:7585650|PMID:8571952|PMID:9195225|PMID:9238033 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:12689 acoustic neuroma susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.D312N (rs1799793) (human) PMID:20150366|REF_RGD_ID:5688735 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:14250 Down syndrome ISO RGD:1319264 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:9714461|REF_RGD_ID:5688738 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:1612 breast cancer susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:haplotype:cds:6540G>A(D312N),18880A>C(p.K751Q)(human) PMID:15598761|REF_RGD_ID:12880387 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:1749 squamous cell carcinoma ISO RGD:1319264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17687452 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:1793 pancreatic cancer ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA,protein:SNPs:exons:rs1799793,rs1052559 PMID:16458430|REF_RGD_ID:2317228 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:1793 pancreatic cancer ISO RGD:1319264 D RGD:9068941 20200609 RGD pancreatic adenocarcinoma;DNA:SNPs: :rs1799793,rs1052555(human) PMID:18544627|REF_RGD_ID:2317223 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:1793 pancreatic cancer treatment ISO RGD:1319264 D RGD:9068941 20200609 RGD PMID:21404106|REF_RGD_ID:11252206 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:1909 melanoma disease_progression ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.K751Q(human) PMID:21390047|REF_RGD_ID:12880434 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:2152 ovary epithelial cancer severity ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.D312N (rs1799793) (human) PMID:19786980|REF_RGD_ID:5688741 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:2394 ovarian cancer ISO RGD:1319264 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:11242112|PMID:11585917|PMID:12820975|PMID:24728327|PMID:25431422|PMID:25741868|PMID:26344056|PMID:28492532|PMID:8571952|PMID:9238033 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:2960 photosensitive trichothiodystrophy ISO RGD:1319264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS PMID:15982307|PMID:19931493|PMID:20944642|PMID:22234153|PMID:23039039|PMID:23221806|PMID:23232694|PMID:24033266|PMID:24728327|PMID:25620205|PMID:25716912|PMID:25741868|PMID:26884178|PMID:27504877|PMID:28492532|PMID:29607586|PMID:31282071|PMID:31803976|PMID:7585650|PMID:7920640|PMID:8571952|PMID:9195225|PMID:9238033|PMID:9651581 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:2962 Cockayne syndrome ISO RGD:1319265 D RGD:9068941 20200609 RGD associated with Xeroderma Pigmentosum;DNA:missense mutation: :p.G602D (mouse) PMID:16904611|REF_RGD_ID:10401080 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:3070 high grade glioma susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD PMID:11319176|REF_RGD_ID:10401082 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:3376 bone osteosarcoma ISO RGD:1319264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone osteosarcoma PMID:19434073|PMID:19470925|PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:3393 coronary artery disease susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNP: :rs13181(human) PMID:27566080|REF_RGD_ID:12880440 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:37 skin disease ISO RGD:1319264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17050553 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:37 skin disease susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD associated with Arsenic Poisoning;DNA:polymorphism:cds:35931A>C(p. K751Q)(human) PMID:19834688|REF_RGD_ID:12880437 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:3908 lung non-small cell carcinoma ISO RGD:1319264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:19434073|PMID:19470925|PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.K751Q(human) PMID:25596702|REF_RGD_ID:12880391 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1319264 D RGD:9068941 20221006 RGD DNA:SNPs:multiple (human) PMID:28924235|REF_RGD_ID:153323316 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:4448 macular degeneration susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotype:cds:p.D312N, p.K751Q (human) PMID:20375340|REF_RGD_ID:10401085 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:4603 epidermolytic hyperkeratosis ISO RGD:1319264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17050553 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:4971 myelofibrosis no_association ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.K751Q (rs13181) (human) PMID:23716550|REF_RGD_ID:11252191 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:630 genetic disease ISO RGD:1319264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11443545|PMID:11710928|PMID:11734544|PMID:12820975|PMID:15494306|PMID:15534626|PMID:15982307|PMID:16054878|PMID:18470933|PMID:18510925|PMID:18637129|PMID:18709642|PMID:19934020|PMID:22234153|PMID:22826098|PMID:23221806|PMID:23232694|PMID:23800062|PMID:24033266|PMID:24252196|PMID:24418926|PMID:24448499|PMID:24728327|PMID:25620205|PMID:25716912|PMID:25741868|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26884178|PMID:27004399|PMID:27396511|PMID:27504877|PMID:28376765|PMID:28492532|PMID:29169765|PMID:29478780|PMID:29607586|PMID:30136158|PMID:31980526|PMID:33199492|PMID:7585650|PMID:7849702|PMID:7920640|PMID:8571952|PMID:9195225|PMID:9238033 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:635 acquired immunodeficiency syndrome susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.K751Q(human) PMID:20127180|REF_RGD_ID:5688740 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1319264 D RGD:9068941 20211217 RGD DNA:SNP:cd: 312A>G (human) PMID:28927037|REF_RGD_ID:150530503 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNPs:exon 23: p.K751Q (human) PMID:19919686|REF_RGD_ID:25671459 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNPs:exon 23: p.K751Q (human) PMID:25531380|REF_RGD_ID:25671460 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNPs:exon 23: p.K751Q (rs13181) (human) PMID:28598207|REF_RGD_ID:25671461 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:687 hepatoblastoma ISO RGD:1319264 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:24728327|PMID:25741868|PMID:28492532|PMID:29178624 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:83 cataract ISO RGD:1319265 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.2209T>C (p.S37P) (human) PMID:25951169|REF_RGD_ID:12880390 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:8552 chronic myeloid leukemia ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.K751Q (human) PMID:24955348|REF_RGD_ID:11252188 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:8552 chronic myeloid leukemia ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.K751Q (rs13181) (human) PMID:25311495|REF_RGD_ID:11060463 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9000011 Gallbladder Neoplasms ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNP: :p.D312N (rs1799793) (human) PMID:21283657|REF_RGD_ID:5688734 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9000217 Stomach Neoplasms ISO RGD:1319264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17009404 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9001946 Skin Abnormalities ISO RGD:1319264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17470448 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1319264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:25741868|PMID:28492532 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNP: :p.K751Q (rs13181) (human) PMID:22739018|REF_RGD_ID:11252203 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNP: :p.K751Q (rs13181) (human) PMID:19484764|REF_RGD_ID:11252204 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17695467 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNP: :rs1799793(human) PMID:25881102|REF_RGD_ID:11252176 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9003386 Sunburn ISO RGD:1319264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17470448 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9004464 Skin Neoplasms ISO RGD:1319264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17050553 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:1319264 D RGD:9068941 20200609 RGD associated with Urinary Bladder Neoplasms;DNA:SNP: :p.K751Q (rs13181) (human) PMID:21047201|REF_RGD_ID:11098572 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9004814 Chromosome Aberrations susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD associated with arsenic induced Hyperkeratosis; DNA:polymorphism:cds:p. K751Q(human) PMID:17050553|REF_RGD_ID:12880393 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9005172 Lung Neoplasms susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:haplotype:cds:p.K751Q(human) PMID:17498557|REF_RGD_ID:12880386 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9005463 Occupational Diseases ISO RGD:1319264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16889696 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9005622 Congenital Ichthyosis with Trichothiodystrophy ISO RGD:1319264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS PMID:15982307|PMID:19931493|PMID:20944642|PMID:22234153|PMID:23039039|PMID:23221806|PMID:23232694|PMID:24033266|PMID:24728327|PMID:25620205|PMID:25716912|PMID:25741868|PMID:26884178|PMID:27504877|PMID:28492532|PMID:29607586|PMID:31282071|PMID:31803976|PMID:7585650|PMID:7920640|PMID:8571952|PMID:9195225|PMID:9238033|PMID:9651581 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9006169 Head and Neck Neoplasms severity ISO RGD:1319264 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:26659720|REF_RGD_ID:11573297 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions treatment ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNP: :p.K751Q (rs13181) (human) PMID:15339847|REF_RGD_ID:11252202 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions treatment ISO RGD:1319264 D RGD:9068941 20200609 RGD associated with Leukemia, Myeloid, Acute;DNA:SNPs, haplotypes: :p.D312N, p.K751Q (human) PMID:17197435|REF_RGD_ID:11252178 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9007364 Mouth Neoplasms susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.D312N,K751Q(human) PMID:17290401|REF_RGD_ID:8552678 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9007659 Anthracycline-induced Cardiotoxicity ISO RGD:1319264 D RGD:9068941 20200609 RGD associated with Leukemia, Myeloid, Acute;DNA:SNP:exon:p.K751Q (rs13181) (human) PMID:24284041|REF_RGD_ID:11252190 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9007715 Endometrial Neoplasms susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.R156R(human) PMID:26349749|REF_RGD_ID:12880439 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18267032 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.K751Q (rs13181) (human) PMID:19307510|REF_RGD_ID:11340203 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9119 acute myeloid leukemia ISO RGD:1319264 D RGD:9068941 20200609 RGD associated with Myeloproliferative Disorders;DNA:polymorphism: :p.K751Q (rs13181) (human) PMID:22496165|REF_RGD_ID:11252198 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :p.D312N, p.K751Q (human) PMID:21394217|REF_RGD_ID:11252209 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.K751Q (rs13181) (human) PMID:20141440|REF_RGD_ID:11252173 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9119 acute myeloid leukemia no_association ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.K751Q (rs13181) (human) PMID:23397959|REF_RGD_ID:11252193 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9256 colorectal cancer ISO RGD:1319264 D RGD:9068941 20221006 RGD mRNA:increased expression:colorectum (human) PMID:16951227|REF_RGD_ID:155260343 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9538 multiple myeloma disease_progression ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.K751Q (rs13181) (human) PMID:22183071|REF_RGD_ID:11252199 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9655 oral mucosa leukoplakia susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.K751Q(human) PMID:17290401|REF_RGD_ID:8552678 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9669 senile cataract no_association ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.K751Q (human) PMID:21599457|REF_RGD_ID:10401083 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9669 senile cataract susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.D312N (human) PMID:24868140|REF_RGD_ID:10401084 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:haplotype PMID:21987080|REF_RGD_ID:11340201 11975918 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.D312N, p.K751Q (human) PMID:19101034|REF_RGD_ID:11252192 11975951 C2AH2orf42 chromosome 2A C2orf42 homolog gene DOID:630 genetic disease ISO RGD:1603029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11975964 TTLL11 tubulin tyrosine ligase like 11 gene DOID:630 genetic disease ISO RGD:1322671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11975981 SFI1 SFI1 centrin binding protein gene DOID:630 genetic disease ISO RGD:1347387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11976033 COL10A1 collagen type X alpha 1 chain gene DOID:0060163 body dysmorphic disorder ISO RGD:735281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 11976033 COL10A1 collagen type X alpha 1 chain gene DOID:0080021 Schmid metaphyseal chondrodysplasia ISO RGD:735281 D RGD:7240710 20180130 OMIM 11976033 COL10A1 collagen type X alpha 1 chain gene DOID:0080021 Schmid metaphyseal chondrodysplasia ISO RGD:735281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE PMID:10721676|PMID:10991694|PMID:11805116|PMID:12554676|PMID:12584438|PMID:15695517|PMID:15880705|PMID:16088909|PMID:17403716|PMID:20872587|PMID:25741868|PMID:28492532|PMID:29234170|PMID:30202406|PMID:30408610|PMID:34423584|PMID:7607655|PMID:7749409|PMID:7936797|PMID:8004099|PMID:8012364|PMID:8220429|PMID:8304336|PMID:8554571|PMID:8782043|PMID:8986632|PMID:9067753|PMID:9525992|PMID:9708440|PMID:9837818|PMID:9852679|PMID:9920912 11976033 COL10A1 collagen type X alpha 1 chain gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:735281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 11976033 COL10A1 collagen type X alpha 1 chain gene DOID:2256 osteochondrodysplasia susceptibility ISO RGD:735281 D RGD:9068941 20200609 RGD Schmid metaphyseal chondrodysplasia, OMIM:156500;DNA:deletion mutations, missense mutation: :1856delC, 1992delCT, p.C591R PMID:8004099|REF_RGD_ID:1600880 11976033 COL10A1 collagen type X alpha 1 chain gene DOID:3910 lung adenocarcinoma ISO RGD:735281 D RGD:9068941 20210924 RGD mRNA:increased expression:lung PMID:33324550|REF_RGD_ID:150429752 11976033 COL10A1 collagen type X alpha 1 chain gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:735281 D RGD:9068941 20210924 RGD PMID:33324550|REF_RGD_ID:150429752 11976033 COL10A1 collagen type X alpha 1 chain gene DOID:630 genetic disease ISO RGD:735281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11976033 COL10A1 collagen type X alpha 1 chain gene DOID:90 degenerative disc disease ISO RGD:2371 D RGD:9068941 20200609 RGD PMID:20948465|REF_RGD_ID:8661231 11976033 COL10A1 collagen type X alpha 1 chain gene DOID:9000073 Metaphyseal Chondrodysplasia ISO RGD:735281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia PMID:25741868|PMID:28492532 11976033 COL10A1 collagen type X alpha 1 chain gene DOID:9006041 Osteoarthritis, Hip ISO RGD:2371 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cartilage PMID:22670655|REF_RGD_ID:10043109 11976033 COL10A1 collagen type X alpha 1 chain gene DOID:9009121 lung metastasis ameliorates ISO RGD:735281 D RGD:9068941 20210924 RGD associated with H1299 cell PMID:33324550|REF_RGD_ID:150429752 11976066 TMED3 transmembrane p24 trafficking protein 3 gene DOID:2717 Bloom syndrome ISO RGD:1347293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11976066 TMED3 transmembrane p24 trafficking protein 3 gene DOID:630 genetic disease ISO RGD:1347293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11976066 TMED3 transmembrane p24 trafficking protein 3 gene DOID:9256 colorectal cancer ISO RGD:1347293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11976076 FGF22 fibroblast growth factor 22 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:733776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 11976076 FGF22 fibroblast growth factor 22 gene DOID:5339 cyclic hematopoiesis ISO RGD:733776 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11976076 FGF22 fibroblast growth factor 22 gene DOID:630 genetic disease ISO RGD:733776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11976082 MAP10 microtubule associated protein 10 gene DOID:1540 parathyroid carcinoma ISO RGD:1607026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11976082 MAP10 microtubule associated protein 10 gene DOID:630 genetic disease ISO RGD:1607026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11976082 MAP10 microtubule associated protein 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11976087 C1H1orf56 chromosome 1 C1orf56 homolog gene DOID:0111940 immunodeficiency 42 ISO RGD:1603033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11976087 C1H1orf56 chromosome 1 C1orf56 homolog gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11976087 C1H1orf56 chromosome 1 C1orf56 homolog gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11976087 C1H1orf56 chromosome 1 C1orf56 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1603033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11976087 C1H1orf56 chromosome 1 C1orf56 homolog gene DOID:5812 MHC class II deficiency ISO RGD:1603033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11976087 C1H1orf56 chromosome 1 C1orf56 homolog gene DOID:630 genetic disease ISO RGD:1603033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11976087 C1H1orf56 chromosome 1 C1orf56 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11976093 PLA2G1B phospholipase A2 group IB gene DOID:630 genetic disease ISO RGD:735909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11976093 PLA2G1B phospholipase A2 group IB gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:62242 D RGD:9068941 20200609 RGD PMID:12376327|REF_RGD_ID:1302550 11976101 CFAP58 cilia and flagella associated protein 58 gene DOID:0070311 oligoasthenoteratozoospermia ISO RGD:1621194 D RGD:9068941 20220825 MouseDO 11976101 CFAP58 cilia and flagella associated protein 58 gene DOID:0112271 spermatogenic failure 49 ISO RGD:1317458 D RGD:7240710 20210113 OMIM 11976101 CFAP58 cilia and flagella associated protein 58 gene DOID:0112271 spermatogenic failure 49 ISO RGD:1317458 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 49 PMID:25741868|PMID:32791035 11976101 CFAP58 cilia and flagella associated protein 58 gene DOID:630 genetic disease ISO RGD:1317458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11976128 LPIN1 lipin 1 gene DOID:11981 morbid obesity ISO RGD:1316957 D RGD:9068941 20200609 RGD PMID:17563064|REF_RGD_ID:1641822 11976128 LPIN1 lipin 1 gene DOID:5419 schizophrenia ISO RGD:1316957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11976128 LPIN1 lipin 1 gene DOID:630 genetic disease ISO RGD:1316957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11976128 LPIN1 lipin 1 gene DOID:783 end stage renal disease ISO RGD:1307646 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:14718385|REF_RGD_ID:1641826 11976128 LPIN1 lipin 1 gene DOID:811 lipodystrophy ISO RGD:1316958 D RGD:9068941 20220825 MouseDO OMIM:608709 11976128 LPIN1 lipin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1307646 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:14718385|REF_RGD_ID:1641826 11976128 LPIN1 lipin 1 gene DOID:9007346 Cachexia ISO RGD:1307646 D RGD:9068941 20200609 RGD associated with Carcinoma, Hepatocellular;mRNA:increased expression:skeletal muscle PMID:14718385|REF_RGD_ID:1641826 11976128 LPIN1 lipin 1 gene DOID:9007692 Insulin Resistance ISO RGD:1316957 D RGD:9068941 20200609 RGD PMID:17563064|REF_RGD_ID:1641822 11976128 LPIN1 lipin 1 gene DOID:9007777 Acute Recurrent Myoglobinuria, Autosomal Recessive ISO RGD:1316957 D RGD:7240710 20180130 OMIM 11976128 LPIN1 lipin 1 gene DOID:9007777 Acute Recurrent Myoglobinuria, Autosomal Recessive ISO RGD:1316957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute Recurrent Myoglobinuria | ClinVar Annotator: match by term: Myoglobinuria, acute recurrent, autosomal recessive PMID:16199547|PMID:17576681|PMID:18591397|PMID:18817903|PMID:20583302|PMID:22481384|PMID:24033266|PMID:25741868|PMID:26111941|PMID:28492532|PMID:32041611|PMID:9536098 11976166 RSPH14 radial spoke head 14 homolog gene DOID:11198 DiGeorge syndrome ISO RGD:1313725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 11976166 RSPH14 radial spoke head 14 homolog gene DOID:5419 schizophrenia ISO RGD:1313725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11976166 RSPH14 radial spoke head 14 homolog gene DOID:630 genetic disease ISO RGD:1313725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11976180 KIAA1522 KIAA1522 ortholog gene DOID:630 genetic disease ISO RGD:1602871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11976180 KIAA1522 KIAA1522 ortholog gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1561149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11976200 PJA2 praja ring finger ubiquitin ligase 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733552 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11976200 PJA2 praja ring finger ubiquitin ligase 2 gene DOID:630 genetic disease ISO RGD:733552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11976200 PJA2 praja ring finger ubiquitin ligase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11976200 PJA2 praja ring finger ubiquitin ligase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733552 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11976214 ACCS 1-aminocyclopropane-1-carboxylate synthase homolog (inactive) gene DOID:0080600 COVID-19 ISO RGD:1606762 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11976214 ACCS 1-aminocyclopropane-1-carboxylate synthase homolog (inactive) gene DOID:1059 intellectual disability ISO RGD:1606762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11976214 ACCS 1-aminocyclopropane-1-carboxylate synthase homolog (inactive) gene DOID:630 genetic disease ISO RGD:1606762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11976241 C4H4orf46 chromosome 4 C4orf46 homolog gene DOID:11372 megacolon ISO RGD:1606430 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11976241 C4H4orf46 chromosome 4 C4orf46 homolog gene DOID:630 genetic disease ISO RGD:1606430 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11976247 ALG8 ALG8 alpha-1,3-glucosyltransferase gene DOID:0080560 congenital disorder of glycosylation Ih ISO RGD:1313512 D RGD:7240710 20180130 OMIM 11976247 ALG8 ALG8 alpha-1,3-glucosyltransferase gene DOID:0080560 congenital disorder of glycosylation Ih ISO RGD:1313512 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1H PMID:12480927|PMID:15235028|PMID:16199547|PMID:17576681|PMID:19688606|PMID:19862844|PMID:23806237|PMID:25428507|PMID:25741868|PMID:26066342|PMID:26653770|PMID:28106320|PMID:28375157|PMID:28492532|PMID:28940310|PMID:9536098 11976247 ALG8 ALG8 alpha-1,3-glucosyltransferase gene DOID:1059 intellectual disability ISO RGD:1313512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11976247 ALG8 ALG8 alpha-1,3-glucosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1313512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 11976247 ALG8 ALG8 alpha-1,3-glucosyltransferase gene DOID:630 genetic disease ISO RGD:1313512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19688606|PMID:19862844|PMID:25741868|PMID:26066342|PMID:28106320|PMID:28375157|PMID:28492532|PMID:9536098 11976247 ALG8 ALG8 alpha-1,3-glucosyltransferase gene DOID:9009126 Polycystic Liver Disease 3 with or without Kidney Cysts ISO RGD:1313512 D RGD:7240710 20190315 OMIM 11976247 ALG8 ALG8 alpha-1,3-glucosyltransferase gene DOID:9009126 Polycystic Liver Disease 3 with or without Kidney Cysts ISO RGD:1313512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS | ClinVar Annotator: match by term: Polycystic liver disease 3 with or without kidney cysts PMID:15235028|PMID:16199547|PMID:17576681|PMID:19688606|PMID:19862844|PMID:25741868|PMID:26066342|PMID:28106320|PMID:28375157|PMID:28492532|PMID:9536098 11976267 ARPP21 cAMP regulated phosphoprotein 21 gene DOID:10283 prostate cancer ISO RGD:1606317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11976267 ARPP21 cAMP regulated phosphoprotein 21 gene DOID:630 genetic disease ISO RGD:1606317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11976340 TNFRSF25 TNF receptor superfamily member 25 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1312746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11976340 TNFRSF25 TNF receptor superfamily member 25 gene DOID:0111213 distal spinal muscular atrophy type 4 ISO RGD:1312746 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive lower motor neuron disease with childhood onset 11976340 TNFRSF25 TNF receptor superfamily member 25 gene DOID:12377 spinal muscular atrophy ISO RGD:1312746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy 11976340 TNFRSF25 TNF receptor superfamily member 25 gene DOID:630 genetic disease ISO RGD:1312746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11976340 TNFRSF25 TNF receptor superfamily member 25 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11976358 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:0050553 JMP syndrome ISO RGD:1353044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11976358 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1353044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 11976358 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:0060260 ptosis ISO RGD:1353044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ptosis PMID:23161826|PMID:23708187|PMID:25741868|PMID:26989088|PMID:28492532|PMID:30440138|PMID:30541864 11976358 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:0060470 salt and pepper syndrome ISO RGD:1353044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile epilepsy syndrome PMID:23161826|PMID:23708187|PMID:25418537|PMID:25741868|PMID:26989088|PMID:28492532 11976358 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1353044 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy PMID:23161826|PMID:25741868|PMID:26989088|PMID:28492532 11976358 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1353044 D RGD:7240710 20180130 OMIM 11976358 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1353044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 5 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 | ClinVar Annotator: match by term: SYNGAP1-related developmental and epileptic encephalopathy | ClinVar Annotator: match by term: SYNGAP1-related encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:19196676|PMID:20683986|PMID:21237447|PMID:21376300|PMID:22692543|PMID:23161826|PMID:23687080|PMID:23708187|PMID:24690944|PMID:25167861|PMID:25186178|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25363768|PMID:25418537|PMID:25640679|PMID:25741868|PMID:25852444|PMID:26079862|PMID:26467025|PMID:26795593|PMID:26989088|PMID:27159028|PMID:27334371|PMID:28135719|PMID:28333917|PMID:28492532|PMID:28554332|PMID:28576131|PMID:28600779|PMID:28708303|PMID:29390993|PMID:29778030|PMID:30440138|PMID:30455457|PMID:30541864|PMID:30564305|PMID:30577886|PMID:30901256|PMID:31349857|PMID:31395010|PMID:31554424|PMID:31981491|PMID:32238909|PMID:32730690|PMID:33639450|PMID:34782754|PMID:9536098 11976358 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:0081181 autosomal recessive intellectual developmental disorder 5 ISO RGD:1353044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 5 PMID:23161826|PMID:23708187|PMID:25741868|PMID:26989088|PMID:27334371|PMID:28492532 11976358 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:1059 intellectual disability ISO RGD:1353044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21237447|PMID:23161826|PMID:23708187|PMID:25167861|PMID:25741868|PMID:26079862|PMID:26989088|PMID:28492532|PMID:28554332|PMID:30541864 11976358 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:12849 autistic disorder ISO RGD:1353044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20531469 11976358 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:1826 epilepsy ISO RGD:1353044 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11976358 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:5419 schizophrenia ISO RGD:1617329 D RGD:9068941 20220825 MouseDO OMIM:181500 11976358 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:630 genetic disease ISO RGD:1353044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19196676|PMID:21237447|PMID:21376300|PMID:22692543|PMID:23033978|PMID:23161826|PMID:23708187|PMID:24690944|PMID:25326635|PMID:25356970|PMID:25418537|PMID:25741868|PMID:25852444|PMID:26467025|PMID:26795593|PMID:26989088|PMID:27334371|PMID:28492532|PMID:30541864|PMID:31349857|PMID:31395010|PMID:31554424|PMID:32730690|PMID:34782754|PMID:9581761 11976358 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:1353044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 11976358 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11976358 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1353044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:16199547|PMID:21237447|PMID:23161826|PMID:23708187|PMID:25326635|PMID:25356970|PMID:25741868|PMID:26795593|PMID:26989088|PMID:28492532|PMID:28708303|PMID:29778030|PMID:30541864 11976358 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1353044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11976358 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1353044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11976427 OXTR oxytocin receptor gene DOID:0050700 cardiomyopathy ISO RGD:736017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:09536092|PMID:11251997|PMID:11884389|PMID:14672715|PMID:15099591|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:18253147|PMID:18509671|PMID:19380584|PMID:19773168|PMID:22245016|PMID:22378279|PMID:22581547|PMID:22584458|PMID:22595201|PMID:23465283|PMID:23631430|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:24917393|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26404900|PMID:26467025|PMID:26498160|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27772553|PMID:27930701|PMID:28407228|PMID:28492532|PMID:28810874|PMID:28898996|PMID:29396561|PMID:29501670|PMID:29961767|PMID:30055862|PMID:30704477|PMID:30847666|PMID:31043699|PMID:31638414|PMID:31737537|PMID:9536092 11976427 OXTR oxytocin receptor gene DOID:0060041 autism spectrum disorder ISO RGD:736017 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:20832055 11976427 OXTR oxytocin receptor gene DOID:0060255 rippling muscle disease 2 ISO RGD:736017 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Caveolinopathy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1C | ClinVar Annotator: match by term: Rippling muscle disease 2 | ClinVar Annotator: match by term: Rippling muscle disease 2, autosomal recessive PMID:09536092|PMID:09537420|PMID:10227634|PMID:10464299|PMID:11001938|PMID:11251997|PMID:11431690|PMID:1146501|PMID:11884389|PMID:12666119|PMID:14600260|PMID:14663034|PMID:14672715|PMID:15580566|PMID:15668980|PMID:16247063|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:17556197|PMID:17994539|PMID:18253147|PMID:18509671|PMID:18583131|PMID:19380584|PMID:19697367|PMID:19773168|PMID:20229577|PMID:20472890|PMID:21660982|PMID:22245016|PMID:22378279|PMID:22584458|PMID:22595201|PMID:22976939|PMID:23465283|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:25351510|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26404900|PMID:26467025|PMID:26498160|PMID:26947586|PMID:2705900|PMID:27184587|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27930701|PMID:28407228|PMID:28492532|PMID:28807458|PMID:28837624|PMID:28877744|PMID:28898996|PMID:29396561|PMID:29501670|PMID:29961767|PMID:30055862|PMID:30704477|PMID:30847666|PMID:31043699|PMID:31638414|PMID:32419263|PMID:32528171|PMID:9536092|PMID:9537420 11976427 OXTR oxytocin receptor gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736017 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:14672715|PMID:15580566 11976427 OXTR oxytocin receptor gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736017 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:09536092|PMID:11251997|PMID:11884389|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:18509671|PMID:19380584|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26467025|PMID:26498160|PMID:27483260|PMID:27930701|PMID:28492532|PMID:28837624|PMID:29961767|PMID:30055862|PMID:9536092 11976427 OXTR oxytocin receptor gene DOID:0110644 long QT syndrome 1 ISO RGD:736017 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:09536092|PMID:11251997|PMID:11884389|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:17556197|PMID:18253147|PMID:18509671|PMID:19380584|PMID:19773168|PMID:22245016|PMID:22378279|PMID:22584458|PMID:22595201|PMID:23465283|PMID:23631430|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:24917393|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26467025|PMID:26498160|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27930701|PMID:28407228|PMID:28492532|PMID:28810874|PMID:28898996|PMID:29396561|PMID:29501670|PMID:29961767|PMID:30055862|PMID:30704477|PMID:30847666|PMID:31043699|PMID:31737537|PMID:9536092 11976427 OXTR oxytocin receptor gene DOID:0110650 long QT syndrome 9 ISO RGD:736017 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 9 | ClinVar Annotator: match by term: Long QT syndrome 9, acquired, susceptibility to PMID:09536092|PMID:11251997|PMID:11884389|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:18253147|PMID:18509671|PMID:19380584|PMID:19773168|PMID:22245016|PMID:22378279|PMID:22584458|PMID:22595201|PMID:23465283|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26467025|PMID:26498160|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27930701|PMID:28407228|PMID:28492532|PMID:28837624|PMID:28898996|PMID:29396561|PMID:29501670|PMID:29961767|PMID:30055862|PMID:30704477|PMID:31043699|PMID:9536092 11976427 OXTR oxytocin receptor gene DOID:0111004 Joubert syndrome 9 ISO RGD:736017 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Joubert syndrome 9 11976427 OXTR oxytocin receptor gene DOID:0111191 distal muscular dystrophy Tateyama type ISO RGD:736017 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal myopathy, Tateyama type PMID:09536092|PMID:11251997|PMID:11884389|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:18509671|PMID:19380584|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26467025|PMID:26498160|PMID:27483260|PMID:27930701|PMID:28492532|PMID:28837624|PMID:29961767|PMID:30055862|PMID:9536092 11976427 OXTR oxytocin receptor gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:736017 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:09536092|PMID:10227634|PMID:11001938|PMID:11251997|PMID:11431690|PMID:1146501|PMID:11884389|PMID:12666119|PMID:14663034|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17994539|PMID:18509671|PMID:18583131|PMID:19380584|PMID:20229577|PMID:20472890|PMID:21660982|PMID:22976939|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26947586|PMID:27483260|PMID:27930701|PMID:28492532|PMID:28807458|PMID:28837624|PMID:28877744|PMID:29961767|PMID:30055862|PMID:9536092 11976427 OXTR oxytocin receptor gene DOID:10763 hypertension ISO RGD:3239 D RGD:9068941 20200618 RGD mRNA:decreased expression:brainstem PMID:16157794|REF_RGD_ID:2304174 11976427 OXTR oxytocin receptor gene DOID:10808 gastric ulcer ISO RGD:3239 D RGD:9068941 20200618 RGD PMID:11764003|REF_RGD_ID:2304192 11976427 OXTR oxytocin receptor gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:736017 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Dominant | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:09536092|PMID:11251997|PMID:11884389|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17556197|PMID:18509671|PMID:19380584|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26467025|PMID:26498160|PMID:27483260|PMID:27930701|PMID:28492532|PMID:29961767|PMID:30055862|PMID:9536092 11976427 OXTR oxytocin receptor gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736017 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11976427 OXTR oxytocin receptor gene DOID:12849 autistic disorder ISO RGD:736017 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:15288368|PMID:15992526|PMID:17383819|PMID:17893705|PMID:18207134|PMID:21082655 11976427 OXTR oxytocin receptor gene DOID:1561 cognitive disorder ISO RGD:736017 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:20347913 11976427 OXTR oxytocin receptor gene DOID:2843 long QT syndrome ISO RGD:736017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:09536092|PMID:10227634|PMID:11001938|PMID:11251997|PMID:11431690|PMID:1146501|PMID:11884389|PMID:12666119|PMID:14647208|PMID:14672715|PMID:15099591|PMID:15580566|PMID:15668980|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:17405141|PMID:17537631|PMID:17556197|PMID:17576681|PMID:17994539|PMID:18253147|PMID:18509671|PMID:18583131|PMID:19238754|PMID:19380584|PMID:19697367|PMID:19773168|PMID:20229577|PMID:20472890|PMID:21182936|PMID:21660982|PMID:22245016|PMID:22378279|PMID:22581547|PMID:22584458|PMID:22595201|PMID:22976939|PMID:23465283|PMID:23631430|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:24917393|PMID:25351510|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26404900|PMID:26467025|PMID:26498160|PMID:26947586|PMID:27184587|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27772553|PMID:27854218|PMID:27930701|PMID:28232187|PMID:28407228|PMID:28492532|PMID:28807458|PMID:28810874|PMID:28837624|PMID:28877744|PMID:28898996|PMID:29396561|PMID:29501670|PMID:29961767|PMID:29970176|PMID:30055862|PMID:30153853|PMID:30174172|PMID:30564623|PMID:30704477|PMID:30847666|PMID:31043699|PMID:31638414|PMID:31737537|PMID:32004987|PMID:32419263|PMID:32528171|PMID:9536092|PMID:9536098|PMID:9537420 11976427 OXTR oxytocin receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:736017 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:17043644 11976427 OXTR oxytocin receptor gene DOID:5419 schizophrenia ISO RGD:736017 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:20196918 11976427 OXTR oxytocin receptor gene DOID:630 genetic disease ISO RGD:736017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11976427 OXTR oxytocin receptor gene DOID:9002669 Hypoxia ISO RGD:3239 D RGD:9068941 20200618 RGD PMID:18655887|REF_RGD_ID:2304092 11976427 OXTR oxytocin receptor gene DOID:9003129 Chromosome 3, Monosomy 3p25 ISO RGD:736017 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:21082655 11976427 OXTR oxytocin receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11976427 OXTR oxytocin receptor gene DOID:9004730 Romano-Ward Syndrome ISO RGD:736017 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:17556197|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 11976427 OXTR oxytocin receptor gene DOID:9007 sudden infant death syndrome ISO RGD:736017 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:12666119|PMID:15580566|PMID:25741868|PMID:28492532 11976427 OXTR oxytocin receptor gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:736017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 11976440 ALDH6A1 aldehyde dehydrogenase 6 family member A1 gene DOID:0060041 autism spectrum disorder ISO RGD:1344188 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11976440 ALDH6A1 aldehyde dehydrogenase 6 family member A1 gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1344188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 11976440 ALDH6A1 aldehyde dehydrogenase 6 family member A1 gene DOID:1059 intellectual disability ISO RGD:1344188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11976440 ALDH6A1 aldehyde dehydrogenase 6 family member A1 gene DOID:630 genetic disease ISO RGD:1344188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11976440 ALDH6A1 aldehyde dehydrogenase 6 family member A1 gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1344188 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:25741868|PMID:28492532 11976440 ALDH6A1 aldehyde dehydrogenase 6 family member A1 gene DOID:9006567 Methylmalonate Semialdehyde Dehydrogenase Deficiency ISO RGD:1344188 D RGD:7240710 20180130 OMIM 11976440 ALDH6A1 aldehyde dehydrogenase 6 family member A1 gene DOID:9006567 Methylmalonate Semialdehyde Dehydrogenase Deficiency ISO RGD:1344188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonate semialdehyde dehydrogenase deficiency PMID:10947204|PMID:11446412|PMID:21863277|PMID:23835272|PMID:25741868|PMID:28492532|PMID:3117077|PMID:32151545|PMID:3939535 11976440 ALDH6A1 aldehyde dehydrogenase 6 family member A1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1344188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11976440 ALDH6A1 aldehyde dehydrogenase 6 family member A1 gene DOID:9252 amino acid metabolic disorder ISO RGD:1344188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10947204 11976440 ALDH6A1 aldehyde dehydrogenase 6 family member A1 gene DOID:9970 obesity ISO RGD:1344188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 11976456 RPA3 replication protein A3 gene DOID:630 genetic disease ISO RGD:1315635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11976472 AP3D1 adaptor related protein complex 3 subunit delta 1 gene DOID:0050633 ocular albinism ISO RGD:1318559 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ocular albinism PMID:25741868 11976472 AP3D1 adaptor related protein complex 3 subunit delta 1 gene DOID:0060539 Hermansky-Pudlak syndrome 1 ISO RGD:1553020 D RGD:9068941 20220825 MouseDO OMIM:203300 11976472 AP3D1 adaptor related protein complex 3 subunit delta 1 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1318559 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 11976472 AP3D1 adaptor related protein complex 3 subunit delta 1 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1318559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 11976472 AP3D1 adaptor related protein complex 3 subunit delta 1 gene DOID:2213 hemorrhagic disease ISO RGD:1318559 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532 11976472 AP3D1 adaptor related protein complex 3 subunit delta 1 gene DOID:2223 platelet storage pool deficiency ISO RGD:1553020 D RGD:9068941 20220825 MouseDO OMIM:185050 11976472 AP3D1 adaptor related protein complex 3 subunit delta 1 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1318559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11976472 AP3D1 adaptor related protein complex 3 subunit delta 1 gene DOID:5339 cyclic hematopoiesis ISO RGD:1318559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11976472 AP3D1 adaptor related protein complex 3 subunit delta 1 gene DOID:630 genetic disease ISO RGD:1318559 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11976472 AP3D1 adaptor related protein complex 3 subunit delta 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11976472 AP3D1 adaptor related protein complex 3 subunit delta 1 gene DOID:9006228 Hermansky-Pudlak Syndrome 10 ISO RGD:1318559 D RGD:7240710 20190315 OMIM 11976472 AP3D1 adaptor related protein complex 3 subunit delta 1 gene DOID:9006228 Hermansky-Pudlak Syndrome 10 ISO RGD:1318559 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 10 PMID:17576681|PMID:25741868|PMID:26744459|PMID:28492532|PMID:9536098 11976510 CCDC3 coiled-coil domain containing 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1351886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11976510 CCDC3 coiled-coil domain containing 3 gene DOID:1070 primary open angle glaucoma ISO RGD:1351886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:28492532 11976510 CCDC3 coiled-coil domain containing 3 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1351886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:26614431 11976510 CCDC3 coiled-coil domain containing 3 gene DOID:630 genetic disease ISO RGD:1351886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11976530 LEPROTL1 leptin receptor overlapping transcript like 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11976530 LEPROTL1 leptin receptor overlapping transcript like 1 gene DOID:630 genetic disease ISO RGD:1316198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11976543 MED7 mediator complex subunit 7 gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1321085 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 11976543 MED7 mediator complex subunit 7 gene DOID:630 genetic disease ISO RGD:1321085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11976552 RINT1 RAD50 interactor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11976552 RINT1 RAD50 interactor 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25050558|PMID:25741868|PMID:28492532|PMID:32566746 11976552 RINT1 RAD50 interactor 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25050558|PMID:25741868|PMID:28492532|PMID:31204009|PMID:32566746 11976552 RINT1 RAD50 interactor 1 gene DOID:630 genetic disease ISO RGD:1605055 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32566746 11976552 RINT1 RAD50 interactor 1 gene DOID:9004590 Acute Liver Failure ISO RGD:1605055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fulminant hepatic failure PMID:25050558|PMID:25741868|PMID:28492532|PMID:31204009|PMID:32283892|PMID:33099839 11976552 RINT1 RAD50 interactor 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1605055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 PMID:16199547|PMID:25741868|PMID:28492532|PMID:31204009|PMID:33471991 11976552 RINT1 RAD50 interactor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605055 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:17576681|PMID:24033266|PMID:25050558|PMID:25741868|PMID:26787654|PMID:26928227|PMID:27544226|PMID:28166811|PMID:28492532|PMID:31173646|PMID:31204009|PMID:31567591|PMID:32566746|PMID:33471991|PMID:9536098 11976552 RINT1 RAD50 interactor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:24033266|PMID:25050558|PMID:25741868|PMID:26787654|PMID:26928227|PMID:27544226|PMID:28166811|PMID:28492532|PMID:31173646|PMID:31204009|PMID:31567591|PMID:32283892|PMID:32566746|PMID:33099839|PMID:33471991|PMID:9536098 11976552 RINT1 RAD50 interactor 1 gene DOID:9008663 Infantile Liver Failure Syndrome 3 ISO RGD:1605055 D RGD:7240710 20191030 OMIM 11976552 RINT1 RAD50 interactor 1 gene DOID:9008663 Infantile Liver Failure Syndrome 3 ISO RGD:1605055 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Infantile liver failure syndrome 3 PMID:17576681|PMID:24033266|PMID:25050558|PMID:25741868|PMID:26787654|PMID:27544226|PMID:28492532|PMID:31204009|PMID:31567591|PMID:32283892|PMID:33099839|PMID:9536098 11976578 SIM1 SIM bHLH transcription factor 1 gene DOID:0050581 brachydactyly ISO RGD:1320567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly 11976578 SIM1 SIM bHLH transcription factor 1 gene DOID:0111715 Schaaf-Yang syndrome ISO RGD:1320567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schaaf-Yang syndrome 11976578 SIM1 SIM bHLH transcription factor 1 gene DOID:10907 microcephaly ISO RGD:1320567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11976578 SIM1 SIM bHLH transcription factor 1 gene DOID:13501 Moebius syndrome ISO RGD:1320567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum PMID:2152513|PMID:23778139|PMID:25234154|PMID:25741868|PMID:28492532 11976578 SIM1 SIM bHLH transcription factor 1 gene DOID:4195 hyperglycemia ISO RGD:1320567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18056790 11976578 SIM1 SIM bHLH transcription factor 1 gene DOID:630 genetic disease ISO RGD:1320567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:2152513|PMID:23778139|PMID:25234154|PMID:25741868 11976578 SIM1 SIM bHLH transcription factor 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:1320567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: SIM1-associated metabolic syndrome 11976578 SIM1 SIM bHLH transcription factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1320567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15818620 11976578 SIM1 SIM bHLH transcription factor 1 gene DOID:9351 diabetes mellitus ISO RGD:1320567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:16924270|PMID:21512513|PMID:2152513|PMID:23778136|PMID:23778139|PMID:25234154|PMID:25741868|PMID:28492532 11976578 SIM1 SIM bHLH transcription factor 1 gene DOID:9970 obesity ISO RGD:1320567 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency PMID:16924270|PMID:19401419|PMID:21512513|PMID:2152513|PMID:23778136|PMID:23778139|PMID:24097297|PMID:25234154|PMID:25741868|PMID:26795956|PMID:28492532|PMID:29216354|PMID:30991789 11976594 TMEM212 transmembrane protein 212 gene DOID:1062 Fanconi syndrome ISO RGD:2300031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 11976594 TMEM212 transmembrane protein 212 gene DOID:630 genetic disease ISO RGD:2300031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11976603 ITLN2 intelectin 2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1353033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11976603 ITLN2 intelectin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1353033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11976603 ITLN2 intelectin 2 gene DOID:630 genetic disease ISO RGD:1353033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11976603 ITLN2 intelectin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11976618 SUPT6H SPT6 homolog, histone chaperone and transcription elongation factor gene DOID:630 genetic disease ISO RGD:1319556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11976664 SPEG striated muscle enriched protein kinase gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:734132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11976664 SPEG striated muscle enriched protein kinase gene DOID:0111216 autosomal recessive centronuclear myopathy ISO RGD:734132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11976664 SPEG striated muscle enriched protein kinase gene DOID:0111217 autosomal dominant centronuclear myopathy ISO RGD:734132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:25741868|PMID:28492532 11976664 SPEG striated muscle enriched protein kinase gene DOID:0111222 centronuclear myopathy 5 ISO RGD:734132 D RGD:7240710 20180130 OMIM 11976664 SPEG striated muscle enriched protein kinase gene DOID:0111222 centronuclear myopathy 5 ISO RGD:734132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 5 PMID:25087613|PMID:25741868|PMID:28492532 11976664 SPEG striated muscle enriched protein kinase gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:734132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11976664 SPEG striated muscle enriched protein kinase gene DOID:1148 polydactyly ISO RGD:734132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 11976664 SPEG striated muscle enriched protein kinase gene DOID:422 congenital structural myopathy ISO RGD:734132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:25741868|PMID:28492532 11976664 SPEG striated muscle enriched protein kinase gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:734132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11976664 SPEG striated muscle enriched protein kinase gene DOID:630 genetic disease ISO RGD:734132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11976664 SPEG striated muscle enriched protein kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11976711 ANKRD18A ankyrin repeat domain 18A gene DOID:630 genetic disease ISO RGD:1352126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11976711 ANKRD18A ankyrin repeat domain 18A gene DOID:9005172 Lung Neoplasms ISO RGD:1352126 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:23131552 11976727 ERLEC1 endoplasmic reticulum lectin 1 gene DOID:13580 cholestasis ISO RGD:1315163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 11976727 ERLEC1 endoplasmic reticulum lectin 1 gene DOID:630 genetic disease ISO RGD:1315163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11976727 ERLEC1 endoplasmic reticulum lectin 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1315163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 11976727 ERLEC1 endoplasmic reticulum lectin 1 gene DOID:9007478 Malocclusion, Angle Class III ISO RGD:1315163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hapsburg jaw 11976746 SNRPF small nuclear ribonucleoprotein polypeptide F gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313451 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased protein binding:multiple (human) PMID:23799036|REF_RGD_ID:10768838 11976746 SNRPF small nuclear ribonucleoprotein polypeptide F gene DOID:9261 nasopharynx carcinoma ISO RGD:1313451 D RGD:9068941 20200609 RGD mRNA:increased expression:nasopharynx (human) PMID:24080422|REF_RGD_ID:10755709 11976754 LOC100993774 transmembrane ascorbate-dependent reductase CYB561 gene DOID:630 genetic disease ISO RGD:1322199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11976754 LOC100993774 transmembrane ascorbate-dependent reductase CYB561 gene DOID:9009252 Orthostatic Hypotension 2 ISO RGD:1322199 D RGD:7240710 20190315 OMIM 11976754 LOC100993774 transmembrane ascorbate-dependent reductase CYB561 gene DOID:9009252 Orthostatic Hypotension 2 ISO RGD:1322199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orthostatic hypotension 2 11976767 FBXL6 F-box and leucine rich repeat protein 6 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1353759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11976767 FBXL6 F-box and leucine rich repeat protein 6 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1353759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11976767 FBXL6 F-box and leucine rich repeat protein 6 gene DOID:4621 holoprosencephaly ISO RGD:1353759 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11976767 FBXL6 F-box and leucine rich repeat protein 6 gene DOID:630 genetic disease ISO RGD:1353759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11976830 NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1321883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25741868 11976830 NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1321883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 11976830 NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1321883 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11976830 NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 gene DOID:0112139 nuclear type mitochondrial complex I deficiency 35 ISO RGD:1321883 D RGD:7240710 20200930 OMIM 11976830 NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 gene DOID:0112139 nuclear type mitochondrial complex I deficiency 35 ISO RGD:1321883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35 PMID:28040730 11976830 NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 gene DOID:1826 epilepsy ISO RGD:1321883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11976830 NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1321883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11976830 NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 gene DOID:630 genetic disease ISO RGD:1321883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11976849 ACVR1B activin A receptor type 1B gene DOID:0060770 dextro-looped transposition of the great arteries ISO RGD:1349804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transposition of the great arteries, dextro-looped 11976849 ACVR1B activin A receptor type 1B gene DOID:0080600 COVID-19 ISO RGD:1349804 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11976849 ACVR1B activin A receptor type 1B gene DOID:10534 stomach cancer ISO RGD:1349804 D RGD:9068941 20220324 RGD PMID:32066878|REF_RGD_ID:151665490 11976849 ACVR1B activin A receptor type 1B gene DOID:10534 stomach cancer disease_progression ISO RGD:1349804 D RGD:9068941 20220324 RGD PMID:32066878|REF_RGD_ID:151665490 11976849 ACVR1B activin A receptor type 1B gene DOID:1790 malignant mesothelioma ameliorates ISO RGD:1349804 D RGD:9068941 20220324 RGD PMID:30061637|REF_RGD_ID:151665492 11976849 ACVR1B activin A receptor type 1B gene DOID:1793 pancreatic cancer ISO RGD:1349804 D RGD:9068941 20200609 RGD PMID:11248065|REF_RGD_ID:1598735 11976849 ACVR1B activin A receptor type 1B gene DOID:1793 pancreatic cancer ISO RGD:1349804 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:9714055|REF_RGD_ID:2317217 11976849 ACVR1B activin A receptor type 1B gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1349804 D RGD:9068941 20220324 RGD DNA:SNP:intron:rs12809597(human) PMID:22586632|REF_RGD_ID:151665491 11976849 ACVR1B activin A receptor type 1B gene DOID:4905 pancreatic carcinoma ISO RGD:1349804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:11248065 11976849 ACVR1B activin A receptor type 1B gene DOID:5409 lung small cell carcinoma ISO RGD:1349804 D RGD:9068941 20220324 RGD PMID:33880365|REF_RGD_ID:151665493 11976849 ACVR1B activin A receptor type 1B gene DOID:630 genetic disease ISO RGD:1349804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11976849 ACVR1B activin A receptor type 1B gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:735207 D RGD:9068941 20220324 RGD PMID:9013782|REF_RGD_ID:151665480 11976849 ACVR1B activin A receptor type 1B gene DOID:9007102 Myocardial Ischemia ISO RGD:735207 D RGD:9068941 20200609 RGD PMID:14993131|REF_RGD_ID:1580888 11976849 ACVR1B activin A receptor type 1B gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:1349804 D RGD:9068941 20220324 RGD associated with stomach cancer;mRNA:increased expression:stomach: PMID:32066878|REF_RGD_ID:151665490 11976861 LOC100978318 glycine N-acyltransferase-like protein 1 gene DOID:1059 intellectual disability ISO RGD:1603595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11976861 LOC100978318 glycine N-acyltransferase-like protein 1 gene DOID:630 genetic disease ISO RGD:1603595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11976881 TTYH3 tweety family member 3 gene DOID:0111957 immunodeficiency 11A ISO RGD:1319948 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency PMID:28492532 11976881 TTYH3 tweety family member 3 gene DOID:630 genetic disease ISO RGD:1319948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11976906 RABL6 RAB, member RAS oncogene family like 6 gene DOID:0050777 Joubert syndrome ISO RGD:1316912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11976906 RABL6 RAB, member RAS oncogene family like 6 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1316912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11976906 RABL6 RAB, member RAS oncogene family like 6 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1316912 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11976906 RABL6 RAB, member RAS oncogene family like 6 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1316912 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11976906 RABL6 RAB, member RAS oncogene family like 6 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11976906 RABL6 RAB, member RAS oncogene family like 6 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1316912 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11976906 RABL6 RAB, member RAS oncogene family like 6 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 11976906 RABL6 RAB, member RAS oncogene family like 6 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316912 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11976906 RABL6 RAB, member RAS oncogene family like 6 gene DOID:0081097 Rafiq syndrome ISO RGD:1316912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11976906 RABL6 RAB, member RAS oncogene family like 6 gene DOID:1059 intellectual disability ISO RGD:1316912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11976906 RABL6 RAB, member RAS oncogene family like 6 gene DOID:3652 Leigh disease ISO RGD:1316912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11976906 RABL6 RAB, member RAS oncogene family like 6 gene DOID:630 genetic disease ISO RGD:1316912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11976906 RABL6 RAB, member RAS oncogene family like 6 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1316912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11976939 IGSF21 immunoglobin superfamily member 21 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602849 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11976939 IGSF21 immunoglobin superfamily member 21 gene DOID:11054 urinary bladder cancer ISO RGD:1602849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 11976939 IGSF21 immunoglobin superfamily member 21 gene DOID:630 genetic disease ISO RGD:1602849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11976968 LDHAL6A lactate dehydrogenase A like 6A gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1345599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 11976968 LDHAL6A lactate dehydrogenase A like 6A gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1345599 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 11976968 LDHAL6A lactate dehydrogenase A like 6A gene DOID:1059 intellectual disability ISO RGD:1345599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11976968 LDHAL6A lactate dehydrogenase A like 6A gene DOID:630 genetic disease ISO RGD:1345599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11976992 ADAM29 ADAM metallopeptidase domain 29 gene DOID:630 genetic disease ISO RGD:1342886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11976992 ADAM29 ADAM metallopeptidase domain 29 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11976998 HCFC1R1 host cell factor C1 regulator 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1351730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11976998 HCFC1R1 host cell factor C1 regulator 1 gene DOID:1826 epilepsy ISO RGD:1351730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11976998 HCFC1R1 host cell factor C1 regulator 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1351730 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11976998 HCFC1R1 host cell factor C1 regulator 1 gene DOID:630 genetic disease ISO RGD:1351730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977013 HSBP1L1 heat shock factor binding protein 1 like 1 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:2902676 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11977013 HSBP1L1 heat shock factor binding protein 1 like 1 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:2902676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 11977013 HSBP1L1 heat shock factor binding protein 1 like 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:2902676 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 11977013 HSBP1L1 heat shock factor binding protein 1 like 1 gene DOID:8445 intestinal volvulus ISO RGD:2902676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11977013 HSBP1L1 heat shock factor binding protein 1 like 1 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:2902676 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 11977013 HSBP1L1 heat shock factor binding protein 1 like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2902676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11977013 HSBP1L1 heat shock factor binding protein 1 like 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:2902676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11977031 MTRNR2L4 MT-RNR2 like 4 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:4105667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11977031 MTRNR2L4 MT-RNR2 like 4 gene DOID:1826 epilepsy ISO RGD:4105667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11977031 MTRNR2L4 MT-RNR2 like 4 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:4105667 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11977031 MTRNR2L4 MT-RNR2 like 4 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:4105667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 11977031 MTRNR2L4 MT-RNR2 like 4 gene DOID:630 genetic disease ISO RGD:4105667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977037 TSNAX translin associated factor X gene DOID:1540 parathyroid carcinoma ISO RGD:1346427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11977037 TSNAX translin associated factor X gene DOID:630 genetic disease ISO RGD:1346427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977037 TSNAX translin associated factor X gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1346427 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 11977037 TSNAX translin associated factor X gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11977047 FAM171A1 family with sequence similarity 171 member A1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1313160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11977047 FAM171A1 family with sequence similarity 171 member A1 gene DOID:630 genetic disease ISO RGD:1313160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977058 HOXD9 homeobox D9 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1354432 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11977058 HOXD9 homeobox D9 gene DOID:3030 mucinous adenocarcinoma ISO RGD:1354432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075790 11977058 HOXD9 homeobox D9 gene DOID:630 genetic disease ISO RGD:1354432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977058 HOXD9 homeobox D9 gene DOID:684 hepatocellular carcinoma ISO RGD:1354432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11977058 HOXD9 homeobox D9 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1354432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075790 11977058 HOXD9 homeobox D9 gene DOID:9008192 Neoplastic Processes ISO RGD:1354432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075790 11977058 HOXD9 homeobox D9 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1354432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075790 11977069 SLC47A2 solute carrier family 47 member 2 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1603576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 11977069 SLC47A2 solute carrier family 47 member 2 gene DOID:12849 autistic disorder ISO RGD:1603576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11977069 SLC47A2 solute carrier family 47 member 2 gene DOID:630 genetic disease ISO RGD:1603576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977069 SLC47A2 solute carrier family 47 member 2 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1603576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 11977094 ABCA9 ATP binding cassette subfamily A member 9 gene DOID:630 genetic disease ISO RGD:1314254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977094 ABCA9 ATP binding cassette subfamily A member 9 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1314254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 11977166 CD2 CD2 molecule gene DOID:0060903 thrombosis ISO RGD:10305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16932337 11977166 CD2 CD2 molecule gene DOID:10283 prostate cancer ISO RGD:10305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11977166 CD2 CD2 molecule gene DOID:1184 nephrotic syndrome ISO RGD:10305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2465858 11977166 CD2 CD2 molecule gene DOID:630 genetic disease ISO RGD:10305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977166 CD2 CD2 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:10305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 11977180 EFNB3 ephrin B3 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1346330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11977180 EFNB3 ephrin B3 gene DOID:12177 common variable immunodeficiency ISO RGD:1346330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11977180 EFNB3 ephrin B3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1346330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11977180 EFNB3 ephrin B3 gene DOID:2729 dyskeratosis congenita ISO RGD:1346330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11977180 EFNB3 ephrin B3 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1346330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 11977180 EFNB3 ephrin B3 gene DOID:480 movement disease ISO RGD:10509 D RGD:9068941 20220825 MouseDO 11977180 EFNB3 ephrin B3 gene DOID:630 genetic disease ISO RGD:1346330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977189 NBAS NBAS subunit of NRZ tethering complex gene DOID:0080716 infantile liver failure syndrome ISO RGD:1604810 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Infantile liver failure syndrome PMID:24033266|PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28492532|PMID:31761904 11977189 NBAS NBAS subunit of NRZ tethering complex gene DOID:0080778 transient infantile liver failure ISO RGD:1604810 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28252636|PMID:28492532|PMID:30825388|PMID:31761904|PMID:33042920 11977189 NBAS NBAS subunit of NRZ tethering complex gene DOID:13938 amenorrhea ISO RGD:1604810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11977189 NBAS NBAS subunit of NRZ tethering complex gene DOID:5419 schizophrenia ISO RGD:1604810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11977189 NBAS NBAS subunit of NRZ tethering complex gene DOID:630 genetic disease ISO RGD:1604810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11977189 NBAS NBAS subunit of NRZ tethering complex gene DOID:9000217 Stomach Neoplasms ISO RGD:1604810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11977189 NBAS NBAS subunit of NRZ tethering complex gene DOID:9000918 Disease Progression ISO RGD:1604810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11977189 NBAS NBAS subunit of NRZ tethering complex gene DOID:9002596 Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly ISO RGD:1604810 D RGD:7240710 20180130 OMIM 11977189 NBAS NBAS subunit of NRZ tethering complex gene DOID:9002596 Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly ISO RGD:1604810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature, optic nerve atrophy, and Pelger-Huet anomaly PMID:16199547|PMID:17576681|PMID:20577004|PMID:24033266|PMID:24884844|PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28115293|PMID:28425089|PMID:28492532|PMID:30542205|PMID:30825388|PMID:31761904|PMID:32768688|PMID:32805445|PMID:32812336|PMID:33042920|PMID:34386911|PMID:9536098 11977189 NBAS NBAS subunit of NRZ tethering complex gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1604810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 11977189 NBAS NBAS subunit of NRZ tethering complex gene DOID:9004590 Acute Liver Failure ISO RGD:1604810 D RGD:9068941 20200609 RGD DNA:mutations:multiple PMID:26541327|REF_RGD_ID:25671408 11977189 NBAS NBAS subunit of NRZ tethering complex gene DOID:9007272 Infantile Liver Failure Syndrome 2 ISO RGD:1604810 D RGD:7240710 20180130 OMIM 11977189 NBAS NBAS subunit of NRZ tethering complex gene DOID:9007272 Infantile Liver Failure Syndrome 2 ISO RGD:1604810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fever-associated acute infantile liver failure syndrome | ClinVar Annotator: match by term: Infantile liver failure syndrome 2 PMID:16199547|PMID:24033266|PMID:25741868|PMID:26073778|PMID:26286438|PMID:26541327|PMID:26578240|PMID:27789416|PMID:28031453|PMID:28252636|PMID:28492532|PMID:28576691|PMID:30558828|PMID:30825388|PMID:31761904|PMID:32313153|PMID:32768688|PMID:32805445|PMID:32812336|PMID:33042920|PMID:34298581|PMID:34386911 11977246 NR2F6 nuclear receptor subfamily 2 group F member 6 gene DOID:289 endometriosis ISO RGD:733507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 11977246 NR2F6 nuclear receptor subfamily 2 group F member 6 gene DOID:630 genetic disease ISO RGD:733507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977246 NR2F6 nuclear receptor subfamily 2 group F member 6 gene DOID:9008939 Breast Neoplasms ISO RGD:733507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11850205 11977254 TMEM54 transmembrane protein 54 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11977254 TMEM54 transmembrane protein 54 gene DOID:630 genetic disease ISO RGD:1606187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977264 CDC7 cell division cycle 7 gene DOID:5426 primary ovarian insufficiency ISO RGD:1318070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 11977264 CDC7 cell division cycle 7 gene DOID:630 genetic disease ISO RGD:1318070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977294 CRIPT CXXC repeat containing interactor of PDZ3 domain gene DOID:0060873 isolated growth hormone deficiency type IA ISO RGD:736668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary dwarfism 1 PMID:24389050|PMID:25558065 11977294 CRIPT CXXC repeat containing interactor of PDZ3 domain gene DOID:3883 Lynch syndrome ISO RGD:736668 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11977294 CRIPT CXXC repeat containing interactor of PDZ3 domain gene DOID:630 genetic disease ISO RGD:736668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11977294 CRIPT CXXC repeat containing interactor of PDZ3 domain gene DOID:9004904 SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES ISO RGD:736668 D RGD:7240710 20180130 OMIM 11977294 CRIPT CXXC repeat containing interactor of PDZ3 domain gene DOID:9004904 SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES ISO RGD:736668 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Short stature with microcephaly and distinctive facies PMID:24389050|PMID:25558065|PMID:25741868|PMID:27250922|PMID:31101064 11977303 CARS2 cysteinyl-tRNA synthetase 2, mitochondrial gene DOID:0111489 combined oxidative phosphorylation deficiency 27 ISO RGD:1606504 D RGD:7240710 20180130 OMIM 11977303 CARS2 cysteinyl-tRNA synthetase 2, mitochondrial gene DOID:0111489 combined oxidative phosphorylation deficiency 27 ISO RGD:1606504 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27 PMID:16199547|PMID:17576681|PMID:25361775|PMID:25640679|PMID:25741868|PMID:25787132|PMID:28492532|PMID:30139652|PMID:9536098 11977303 CARS2 cysteinyl-tRNA synthetase 2, mitochondrial gene DOID:10907 microcephaly ISO RGD:1606504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11977303 CARS2 cysteinyl-tRNA synthetase 2, mitochondrial gene DOID:2222 factor X deficiency ISO RGD:1606504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 11977303 CARS2 cysteinyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1606504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30139652 11977303 CARS2 cysteinyl-tRNA synthetase 2, mitochondrial gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1606504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11977321 CDX2 caudal type homeobox 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:730914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29439001 11977321 CDX2 caudal type homeobox 2 gene DOID:0080700 caudal regression syndrome ISO RGD:730914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sirenomelia PMID:25741868 11977321 CDX2 caudal type homeobox 2 gene DOID:630 genetic disease ISO RGD:730914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977321 CDX2 caudal type homeobox 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:730914 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35674868 11977321 CDX2 caudal type homeobox 2 gene DOID:9000545 Ectromelia ISO RGD:730914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sirenomelia PMID:25741868 11977321 CDX2 caudal type homeobox 2 gene DOID:9001441 Adenomatous Polyps ISO RGD:730915 D RGD:9068941 20200609 RGD PMID:9052785|REF_RGD_ID:734757 11977321 CDX2 caudal type homeobox 2 gene DOID:9001471 Anorectal Malformations ISO RGD:730914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anorectal malformation PMID:25741868 11977321 CDX2 caudal type homeobox 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:730914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29439001 11977321 CDX2 caudal type homeobox 2 gene DOID:9206 Barrett's esophagus disease_progression ISO RGD:730914 D RGD:9068941 20200609 RGD PMID:23011828|REF_RGD_ID:7349348 11977332 LOC100978529 myosin-7 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:736718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:10024460|PMID:10725281|PMID:12974739|PMID:16650083|PMID:17125710|PMID:17192269|PMID:17703256|PMID:19150014|PMID:20031618|PMID:21310275|PMID:21674835|PMID:21750094|PMID:22429680|PMID:22765922|PMID:23074333|PMID:23283745|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24793961|PMID:25031304|PMID:25351510|PMID:25611685|PMID:25741868|PMID:27247418|PMID:27519903|PMID:27532257|PMID:28492532|PMID:28640247|PMID:28771489|PMID:29300372|PMID:29875424|PMID:30297972|PMID:30847666|PMID:31447099|PMID:31513939|PMID:31737537|PMID:32746448|PMID:32894683|PMID:33087929|PMID:33673806|PMID:34067482|PMID:7731997|PMID:7796500|PMID:8483915|PMID:8541871|PMID:9172070 11977332 LOC100978529 myosin-7 gene DOID:0050700 cardiomyopathy ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10424815|PMID:10521296|PMID:10563488|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11106718|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11499719|PMID:11723028|PMID:11748309|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12016059|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12473556|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12749056|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14520662|PMID:14563299|PMID:14656445|PMID:1472461|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15010274|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15699387|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:15940186|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16715312|PMID:16754800|PMID:16858239|PMID:16870472|PMID:16918501|PMID:16938236|PMID:16983074|PMID:17019812|PMID:17095604|PMID:17097032|PMID:17118657|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17336526|PMID:17351073|PMID:17372140|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17502101|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17599605|PMID:17612745|PMID:17703256|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18076673|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19035361|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19336582|PMID:19412328|PMID:1944483|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:19913502|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20309391|PMID:20350521|PMID:20359594|PMID:20376763|PMID:20378854|PMID:20394946|PMID:20428263|PMID:20439259|PMID:20474083|PMID:20530761|PMID:2062450|PMID:20624503|PMID:20641121|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20738943|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20952769|PMID:20965760|PMID:20975235|PMID:20981092|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21425739|PMID:21426742|PMID:21483645|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21817903|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21846512|PMID:21896538|PMID:21943931|PMID:21958740|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22177269|PMID:22213221|PMID:22260945|PMID:22267749|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22784669|PMID:22811549|PMID:22857948|PMID:22859017|PMID:22918376|PMID:22949430|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23271734|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23313350|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:23870641|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113 11977332 LOC100978529 myosin-7 gene DOID:0050700 cardiomyopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24215330|PMID:24268868|PMID:24298987|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24558114|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24721642|PMID:24749114|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25214167|PMID:25228707|PMID:25239116|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25447171|PMID:25448463|PMID:25467552|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25607779|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25931334|PMID:25935763|PMID:25937279|PMID:25937619|PMID:25961035|PMID:25979592|PMID:26025024|PMID:26084686|PMID:26150528|PMID:26162782|PMID:26187847|PMID:26199943|PMID:26220970|PMID:26223264|PMID:26246073|PMID:26272908|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26406308|PMID:26446785|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26654849|PMID:26656175|PMID:26688388|PMID:26718681|PMID:26743238|PMID:26782017|PMID:26846766|PMID:26899768|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161882|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27282841|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27519903|PMID:2753225|PMID:27532257|PMID:27574918|PMID:27576561|PMID:27600940|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27788187|PMID:27831900|PMID:27841901|PMID:27854218|PMID:27884173|PMID:27885498|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28002430|PMID:28005231|PMID:28045975|PMID:28067235|PMID:28087426|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28396031|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28449774|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28699631|PMID:28704380|PMID:28706299|PMID:28750076|PMID:28771251|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28912206|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29073106|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29178653|PMID:29192238|PMID:29212898|PMID:29253866|PMID:29255176|PMID:29300372|PMID:29343710|PMID:29343803|PMID:29398688|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29517769|PMID:29540472|PMID:29631964|PMID:29661763|PMID:29666183|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29867217|PMID:29875424|PMID:29892087|PMID:29907873|PMID:29915097|PMID:29915098|PMID:29970176|PMID:29997562|PMID:30022097|PMID:30052928|PMID:30105547|PMID:30122538|PMID:30165862|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30359267|PMID:30371277|PMID:30384889|PMID:30385303|PMID:30403391|PMID:30462978|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30615648|PMID:30665703|PMID:30696458|PMID:30731207|PMID:30745532|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30972196|PMID:30996762|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31064352|PMID:31110529|PMID:31112422|PMID:31130284|PMID:31156706|PMID:31195250|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31514951|PMID:31517061|PMID:31534214|PMID:31568572|PMID:31582565|PMID:31589614|PMID:31638223|PMID:31722741|PMID:31735781|PMID:31737537|PMID:31771441|PMID:31918855|PMID:31919335|PMID:31931472|PMID:31931689|PMID:31941943|PMID:31977013|PMID:31980526|PMID:31983221 11977332 LOC100978529 myosin-7 gene DOID:0050700 cardiomyopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:32013205|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32381727|PMID:32458740|PMID:32481709|PMID:32492895|PMID:32528171|PMID:32531501|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32731933|PMID:32746448|PMID:32789579|PMID:32830170|PMID:32833721|PMID:32880476|PMID:32894683|PMID:32931854|PMID:32960281|PMID:32968017|PMID:32969603|PMID:33087929|PMID:33190526|PMID:33232181|PMID:33297573|PMID:33302605|PMID:33309763|PMID:33382884|PMID:33407484|PMID:33448881|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33586461|PMID:33658040|PMID:33673806|PMID:33764162|PMID:33906374|PMID:34008892|PMID:34036930|PMID:34135346|PMID:34263907|PMID:34310159|PMID:34426522|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34615813|PMID:34621001|PMID:34675999|PMID:34819141|PMID:34949102|PMID:35050212|PMID:35063694|PMID:35265679|PMID:35288587|PMID:35456187|PMID:35535697|PMID:35544052|PMID:35653365|PMID:36129056|PMID:7532257|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7786104|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8250038|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8343162|PMID:8375803|PMID:8435239|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9047366|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9476679|PMID:9503187|PMID:9536098|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9874056|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:0050821 first-degree atrioventricular block ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: First degree atrioventricular block PMID:21127202|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26150528|PMID:28492532|PMID:28798025|PMID:32880476|PMID:33495597|PMID:34542152 11977332 LOC100978529 myosin-7 gene DOID:0060036 intrinsic cardiomyopathy ISO RGD:736718 D RGD:9068941 20221110 RGD protein:increased expression:heart (human) PMID:27249171|REF_RGD_ID:155646134 11977332 LOC100978529 myosin-7 gene DOID:0060041 autism spectrum disorder ISO RGD:736718 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:22958901|PMID:24033266|PMID:24111713|PMID:24793961|PMID:25611685|PMID:25741868|PMID:26076356|PMID:26468400|PMID:27247418|PMID:27532257|PMID:27600940|PMID:28492532|PMID:28790153|PMID:28807990 11977332 LOC100978529 myosin-7 gene DOID:0060224 atrial fibrillation ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:25741868 11977332 LOC100978529 myosin-7 gene DOID:0060253 scapuloperoneal myopathy ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE | ClinVar Annotator: match by term: Scapuloperoneal muscular dystrophy | ClinVar Annotator: match by term: Scapuloperoneal myopathy | ClinVar Annotator: match by term: Scapuloperoneal syndrome, myopathic type PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:15000344|PMID:15010274|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17351073|PMID:17372140|PMID:17383184|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19412328|PMID:1944483|PMID:19477645|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24721642|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25576864|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26688388|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27082122|PMID:27153395 11977332 LOC100978529 myosin-7 gene DOID:0060253 scapuloperoneal myopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE | ClinVar Annotator: match by term: Scapuloperoneal muscular dystrophy | ClinVar Annotator: match by term: Scapuloperoneal myopathy | ClinVar Annotator: match by term: Scapuloperoneal syndrome, myopathic type PMID:27194543|PMID:27224906|PMID:27247418|PMID:27387980|PMID:27483260|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28912206|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29253866|PMID:29300372|PMID:29343710|PMID:29343803|PMID:29398688|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29892087|PMID:29907873|PMID:29915098|PMID:29970176|PMID:30022097|PMID:30122538|PMID:30165862|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30371277|PMID:30403391|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32458740|PMID:32492895|PMID:32528171|PMID:32531501|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32880476|PMID:32894683|PMID:32931854|PMID:33232181|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34008892|PMID:34426522|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34949102|PMID:35535697|PMID:35653365|PMID:36129056|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:0060439 lysinuric protein intolerance ISO RGD:736718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11977332 LOC100978529 myosin-7 gene DOID:0060480 left ventricular noncompaction ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:10900182|PMID:12749056|PMID:15322983|PMID:16199547|PMID:16754800|PMID:17372140|PMID:17947214|PMID:18159245|PMID:18258667|PMID:18506004|PMID:18519860|PMID:19808347|PMID:19864899|PMID:20031602|PMID:20031619|PMID:20530761|PMID:20624503|PMID:20733148|PMID:20800588|PMID:20965760|PMID:21127202|PMID:21310275|PMID:2136805|PMID:21499742|PMID:21511876|PMID:21551322|PMID:22464770|PMID:22763267|PMID:22859017|PMID:22918376|PMID:22958901|PMID:23281406|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23426552|PMID:23707328|PMID:23861362|PMID:23956225|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24691700|PMID:25125180|PMID:25163546|PMID:25351510|PMID:25524337|PMID:25666907|PMID:25741868|PMID:26332594|PMID:26743238|PMID:27153395|PMID:27532257|PMID:27788187|PMID:28193612|PMID:28265379|PMID:28416588|PMID:28492532|PMID:28807990|PMID:28971120|PMID:29121657|PMID:29253866|PMID:29300372|PMID:29892087|PMID:29915098|PMID:30371277|PMID:30775854|PMID:31006259|PMID:3203908|PMID:32458740|PMID:7883988|PMID:7909436|PMID:8614836|PMID:8981935|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:0070197 distal myopathy 1 ISO RGD:736718 D RGD:7240710 20180912 OMIM 11977332 LOC100978529 myosin-7 gene DOID:0070197 distal myopathy 1 ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Laing early-onset distal myopathy | ClinVar Annotator: match by term: Myopathy, distal, 1 PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10424815|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17351073|PMID:17372140|PMID:17383184|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19412328|PMID:1944483|PMID:19477645|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24721642|PMID:24726209|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:24953931|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25447691|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25576864|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26688388|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166 11977332 LOC100978529 myosin-7 gene DOID:0070197 distal myopathy 1 ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Laing early-onset distal myopathy | ClinVar Annotator: match by term: Myopathy, distal, 1 PMID:27066506|PMID:27082122|PMID:27153395|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27387980|PMID:27483260|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28912206|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29343803|PMID:29398688|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:29970176|PMID:30022097|PMID:30122538|PMID:30165862|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30403391|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:30996762|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32492895|PMID:32528171|PMID:32531501|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32880476|PMID:32894683|PMID:32931854|PMID:33232181|PMID:33297573|PMID:33298082|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34008892|PMID:34426522|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34949102|PMID:35535697|PMID:35653365|PMID:36129056|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7786104|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:0080000 muscular disease ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:15358028|PMID:16938236|PMID:19149795|PMID:20975235|PMID:22958901|PMID:24033266|PMID:24093860|PMID:24111713|PMID:24793961|PMID:25086479|PMID:25611685|PMID:25741868|PMID:25937619|PMID:26187847|PMID:27247418|PMID:27532257|PMID:28492532|PMID:28498465|PMID:31513939|PMID:31589614|PMID:32894683|PMID:34542152 11977332 LOC100978529 myosin-7 gene DOID:0080100 congenital myopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital myopathy PMID:24033266|PMID:25741868|PMID:27854218|PMID:28492532|PMID:33500567 11977332 LOC100978529 myosin-7 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:10024460|PMID:10065021|PMID:10328076|PMID:10521296|PMID:10725281|PMID:10750581|PMID:10882745|PMID:11133230|PMID:11186938|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11968089|PMID:12081993|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12975413|PMID:1430197|PMID:1472461|PMID:15010274|PMID:15136674|PMID:15358028|PMID:15483641|PMID:15528230|PMID:1552912|PMID:15563892|PMID:15757018|PMID:15856146|PMID:15858117|PMID:16199542|PMID:16267253|PMID:1638703|PMID:16630449|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17125710|PMID:17438619|PMID:17560888|PMID:17612745|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:18761664|PMID:19149795|PMID:19150014|PMID:1944483|PMID:1975517|PMID:19880069|PMID:20031618|PMID:20350521|PMID:20359594|PMID:20800588|PMID:20975235|PMID:21127202|PMID:21239446|PMID:21310275|PMID:21750094|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22765922|PMID:22857948|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23197161|PMID:23233322|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23396983|PMID:23403236|PMID:23549607|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24093860|PMID:24111713|PMID:24298987|PMID:24503780|PMID:24510615|PMID:24691700|PMID:24704860|PMID:24749114|PMID:24793961|PMID:25031304|PMID:25086479|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25741868|PMID:25937619|PMID:26187847|PMID:26573135|PMID:26743238|PMID:26914223|PMID:26936621|PMID:26969327|PMID:27082122|PMID:27153395|PMID:27247418|PMID:27532257|PMID:27600940|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27974200|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28241245|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28606303|PMID:28615295|PMID:28790153|PMID:29121657|PMID:29212898|PMID:29300372|PMID:30297972|PMID:30511546|PMID:30731207|PMID:30847666|PMID:30871747|PMID:30924982|PMID:31006259|PMID:31110529|PMID:31199839|PMID:31333075|PMID:31493341|PMID:31513939|PMID:31568572|PMID:32381727|PMID:7581410|PMID:7662452|PMID:7731997|PMID:7848420|PMID:8186698|PMID:8254035|PMID:8268932|PMID:8490051|PMID:9105042|PMID:9140839|PMID:9826622|PMID:9835779 11977332 LOC100978529 myosin-7 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:736718 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:10024460|PMID:10065021|PMID:10328076|PMID:10521296|PMID:10725281|PMID:10750581|PMID:10882745|PMID:11133230|PMID:11186938|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11968089|PMID:12081993|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12975413|PMID:1430197|PMID:1472461|PMID:15010274|PMID:15136674|PMID:15358028|PMID:15483641|PMID:15528230|PMID:1552912|PMID:15563892|PMID:15757018|PMID:15856146|PMID:15858117|PMID:16199542|PMID:16267253|PMID:1638703|PMID:16630449|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17125710|PMID:17438619|PMID:17560888|PMID:17612745|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:18761664|PMID:19149795|PMID:19150014|PMID:1944483|PMID:19666645|PMID:1975517|PMID:19880069|PMID:20031618|PMID:20301436|PMID:20350521|PMID:20359594|PMID:20800588|PMID:20975235|PMID:21127202|PMID:21239446|PMID:21288719|PMID:21310275|PMID:21750094|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22765922|PMID:22857948|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23197161|PMID:23233322|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23396983|PMID:23403236|PMID:23549607|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24093860|PMID:24111713|PMID:24183960|PMID:24298987|PMID:24503780|PMID:24510615|PMID:24691700|PMID:24704860|PMID:24749114|PMID:24793961|PMID:25031304|PMID:25086479|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25741868|PMID:25937619|PMID:26187847|PMID:26573135|PMID:26743238|PMID:26914223|PMID:26936621|PMID:26969327|PMID:27082122|PMID:27153395|PMID:27247418|PMID:27532257|PMID:27600940|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27974200|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28241245|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28606303|PMID:28615295|PMID:28790153|PMID:29121657|PMID:29212898|PMID:29300372|PMID:29907873|PMID:30217213|PMID:30291343|PMID:30297972|PMID:30511546|PMID:30731207|PMID:30755392|PMID:30847666|PMID:30871747|PMID:30924982|PMID:31006259|PMID:31110529|PMID:31199839|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31931472|PMID:32233023|PMID:32284968|PMID:32381727|PMID:33297573|PMID:33673806|PMID:34540771|PMID:7581410|PMID:7662452|PMID:7731997|PMID:7848420|PMID:8186698|PMID:8254035|PMID:8268932|PMID:8490051|PMID:9105042|PMID:9140839|PMID:9826622|PMID:9835779 11977332 LOC100978529 myosin-7 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:736718 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:1472461|PMID:15000344|PMID:15010274|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17125710|PMID:17180650|PMID:17351073|PMID:17372140|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18565996|PMID:18660445|PMID:18761664|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19412328|PMID:1944483|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20301436|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21288719|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24749114|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163546|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25467552|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27082122|PMID:27153395|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27483260|PMID:27532257|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27974200|PMID:28138913|PMID:28152038|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465 11977332 LOC100978529 myosin-7 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:736718 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:28518168|PMID:28566242|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29447731|PMID:29517769|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:30022097|PMID:30122538|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32381727|PMID:32492895|PMID:32531501|PMID:32612965|PMID:32880476|PMID:32894683|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:34426522|PMID:34540771|PMID:34542152|PMID:35535697|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8375803|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:1472461|PMID:15000344|PMID:15010274|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17125710|PMID:17180650|PMID:17351073|PMID:17372140|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18565996|PMID:18660445|PMID:18761664|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19412328|PMID:1944483|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20301436|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21288719|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24749114|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163546|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25467552|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27082122|PMID:27153395|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27387980|PMID:27483260|PMID:27532257|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27974200|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356 11977332 LOC100978529 myosin-7 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28927399|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29447731|PMID:29517769|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:30022097|PMID:30122538|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32381727|PMID:32492895|PMID:32531501|PMID:32612965|PMID:32659924|PMID:32880476|PMID:32894683|PMID:33232181|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34426522|PMID:34540771|PMID:34542152|PMID:35535697|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8375803|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:1472461|PMID:15000344|PMID:15010274|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15857933|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17125710|PMID:17180650|PMID:17351073|PMID:17372140|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18565996|PMID:18660445|PMID:18761664|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19412328|PMID:1944483|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20301436|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21288719|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24749114|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163546|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25467552|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27082122|PMID:27153395|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27387980|PMID:27483260|PMID:27532257|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27974200|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666 11977332 LOC100978529 myosin-7 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28912206|PMID:28927399|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29447731|PMID:29517769|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:30022097|PMID:30122538|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32381727|PMID:32492895|PMID:32531501|PMID:32612965|PMID:32659924|PMID:32880476|PMID:32894683|PMID:32931854|PMID:33232181|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34949102|PMID:35535697|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8375803|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28912206|PMID:28927399|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29447731|PMID:29517769|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:30022097|PMID:30122538|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32381727|PMID:32492895|PMID:32531501|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32880476|PMID:32894683|PMID:32931854|PMID:33232181|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34426522|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34949102|PMID:35535697|PMID:35653365|PMID:36129056|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8375803|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10024460|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12473556|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14656445|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15136674|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15550524|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630450|PMID:16650083|PMID:16715312|PMID:16858239|PMID:16918501|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17351073|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17502101|PMID:17560888|PMID:17599605|PMID:17703256|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18175163|PMID:18258667|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18533079|PMID:18565996|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808356|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20428263|PMID:20624503|PMID:20664766|PMID:20800588|PMID:20819418|PMID:20865685|PMID:20975235|PMID:21127202|PMID:21211974|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:21425739|PMID:21511876|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21817903|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22213221|PMID:22260945|PMID:22267749|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23197161|PMID:23233322|PMID:23271734|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23508784|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24093860|PMID:24111713|PMID:24183960|PMID:24268868|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24704860|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25239116|PMID:25326637|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26246073|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26573135|PMID:26627873|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161364|PMID:27247418|PMID:27318203|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27930701|PMID:27974200|PMID:28087426|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28518168|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28971120 11977332 LOC100978529 myosin-7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29300372|PMID:29343710|PMID:29398688|PMID:29420653|PMID:29661763|PMID:29709087|PMID:29773157|PMID:29875424|PMID:29907873|PMID:30022097|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30297972|PMID:30403391|PMID:30531895|PMID:30588760|PMID:30623132|PMID:30731207|PMID:30775854|PMID:30847666|PMID:30871747|PMID:31006259|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31199839|PMID:31308319|PMID:31333075|PMID:31493341|PMID:31568572|PMID:31638223|PMID:31722741|PMID:31790337|PMID:31918855|PMID:32481709|PMID:32880476|PMID:32894683|PMID:33673806|PMID:34542152|PMID:7581410|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7848441|PMID:7874131|PMID:7883988|PMID:7994801|PMID:8250038|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8435239|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9271024|PMID:9541509|PMID:9544842|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779 11977332 LOC100978529 myosin-7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10024460|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12473556|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14656445|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15136674|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15550524|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630450|PMID:16650083|PMID:16715312|PMID:16858239|PMID:16918501|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17351073|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17502101|PMID:17560888|PMID:17599605|PMID:17703256|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18533079|PMID:18565996|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808356|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20428263|PMID:20624503|PMID:20664766|PMID:20800588|PMID:20819418|PMID:20865685|PMID:20975235|PMID:21127202|PMID:21211974|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:21425739|PMID:21511876|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21817903|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22213221|PMID:22260945|PMID:22267749|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23197161|PMID:23233322|PMID:23271734|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23508784|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24093860|PMID:24111713|PMID:24183960|PMID:24268868|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24704860|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25239116|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26246073|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26573135|PMID:26627873|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161364|PMID:27247418|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27930701|PMID:27974200|PMID:28087426|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28518168|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025 11977332 LOC100978529 myosin-7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29300372|PMID:29343710|PMID:29398688|PMID:29420653|PMID:29661763|PMID:29709087|PMID:29773157|PMID:29875424|PMID:29907873|PMID:30022097|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30531895|PMID:30588760|PMID:30623132|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30871747|PMID:31006259|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31199839|PMID:31308319|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:32013205|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32481709|PMID:32746448|PMID:32880476|PMID:32894683|PMID:33087929|PMID:33297573|PMID:33673806|PMID:34067482|PMID:34542152|PMID:7581410|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7848441|PMID:7874131|PMID:7883988|PMID:7994801|PMID:8250038|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8435239|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9271024|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779 11977332 LOC100978529 myosin-7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10024460|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12473556|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14656445|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15136674|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15550524|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630450|PMID:16650083|PMID:16715312|PMID:16858239|PMID:16918501|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17351073|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17502101|PMID:17560888|PMID:17599605|PMID:17703256|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18533079|PMID:18565996|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808356|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20428263|PMID:20624503|PMID:20664766|PMID:20800588|PMID:20819418|PMID:20865685|PMID:20975235|PMID:21127202|PMID:21211974|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:21425739|PMID:21511876|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21817903|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22213221|PMID:22260945|PMID:22267749|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23197161|PMID:23233322|PMID:23271734|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23508784|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24093860|PMID:24111713|PMID:24183960|PMID:24268868|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24704860|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25239116|PMID:25326637|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26246073|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26573135|PMID:26627873|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161364|PMID:27247418|PMID:27318203|PMID:27373729|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27930701|PMID:27974200|PMID:28087426|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28518168|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025 11977332 LOC100978529 myosin-7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29300372|PMID:29343710|PMID:29420653|PMID:29661763|PMID:29709087|PMID:29773157|PMID:29875424|PMID:29907873|PMID:30022097|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30531895|PMID:30588760|PMID:30623132|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30871747|PMID:31006259|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31199839|PMID:31308319|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:32013205|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32481709|PMID:32746448|PMID:32833721|PMID:32880476|PMID:32894683|PMID:33087929|PMID:33297573|PMID:33673806|PMID:34067482|PMID:34542152|PMID:35535697|PMID:7581410|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7874131|PMID:7883988|PMID:7994801|PMID:8250038|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8435239|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9271024|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779 11977332 LOC100978529 myosin-7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10024460|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12473556|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14656445|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15136674|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15550524|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630450|PMID:16650083|PMID:16715312|PMID:16858239|PMID:16918501|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17351073|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17502101|PMID:17560888|PMID:17599605|PMID:17703256|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18533079|PMID:18565996|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808356|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20428263|PMID:20624503|PMID:20664766|PMID:20800588|PMID:20819418|PMID:20865685|PMID:20975235|PMID:21127202|PMID:21211974|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:21425739|PMID:21511876|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21817903|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22213221|PMID:22260945|PMID:22267749|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23197161|PMID:23233322|PMID:23271734|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23508784|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24183960|PMID:24268868|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24704860|PMID:24714796|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26246073|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161364|PMID:27247418|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27930701|PMID:27974200|PMID:28087426|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28255936|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28518168 11977332 LOC100978529 myosin-7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29300372|PMID:29343710|PMID:29420653|PMID:29661763|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:30022097|PMID:30165862|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30531895|PMID:30588760|PMID:30623132|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30871747|PMID:31006259|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31199839|PMID:31308319|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:32013205|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32481709|PMID:32492895|PMID:32612965|PMID:32746448|PMID:32833721|PMID:32880476|PMID:32894683|PMID:32960281|PMID:32968017|PMID:33087929|PMID:33190526|PMID:33297573|PMID:33302605|PMID:33382884|PMID:33487615|PMID:33673806|PMID:34067482|PMID:34310159|PMID:34542152|PMID:34598319|PMID:34615813|PMID:35535697|PMID:35544052|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7815466|PMID:7874131|PMID:7883988|PMID:7994801|PMID:8180512|PMID:8194835|PMID:8196066|PMID:8250038|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8375803|PMID:8435239|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779 11977332 LOC100978529 myosin-7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10024460|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12473556|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14656445|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15136674|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15550524|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630450|PMID:16650083|PMID:16715312|PMID:16858239|PMID:16918501|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17351073|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17502101|PMID:17560888|PMID:17576681|PMID:17599605|PMID:17703256|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18533079|PMID:18565996|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808356|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20428263|PMID:20624503|PMID:20664766|PMID:20800588|PMID:20819418|PMID:20865685|PMID:20975235|PMID:21127202|PMID:21211974|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:21425739|PMID:21511876|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21817903|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22213221|PMID:22260945|PMID:22267749|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23197161|PMID:23233322|PMID:23271734|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23508784|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24183960|PMID:24268868|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26246073|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161364|PMID:27247418|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27930701|PMID:27974200|PMID:28002430|PMID:28087426|PMID:28138913|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28255936|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28481356 11977332 LOC100978529 myosin-7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532|PMID:28518168|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29300372|PMID:29343710|PMID:29398688|PMID:29420653|PMID:29661763|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:30022097|PMID:30165862|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30531895|PMID:30588760|PMID:30623132|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30871747|PMID:31006259|PMID:31110529|PMID:31112422|PMID:31199839|PMID:31308319|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:32013205|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32481709|PMID:32492895|PMID:32612965|PMID:32746448|PMID:32833721|PMID:32880476|PMID:32894683|PMID:32960281|PMID:32968017|PMID:33087929|PMID:33190526|PMID:33297573|PMID:33302605|PMID:33382884|PMID:33487615|PMID:33673806|PMID:34067482|PMID:34310159|PMID:34542152|PMID:34598319|PMID:34615813|PMID:35535697|PMID:35544052|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7815466|PMID:7874131|PMID:7883988|PMID:7994801|PMID:8180512|PMID:8194835|PMID:8196066|PMID:8250038|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8375803|PMID:8435239|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779 11977332 LOC100978529 myosin-7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10024460|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12473556|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14656445|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15136674|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15550524|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630450|PMID:16650083|PMID:16715312|PMID:16858239|PMID:16918501|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17351073|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17502101|PMID:17560888|PMID:17576681|PMID:17599605|PMID:17703256|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18533079|PMID:18565996|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808356|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20428263|PMID:20624503|PMID:20664766|PMID:20800588|PMID:20819418|PMID:20865685|PMID:20975235|PMID:21127202|PMID:21211974|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:21425739|PMID:21511876|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21817903|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22213221|PMID:22260945|PMID:22267749|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23197161|PMID:23233322|PMID:23271734|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23508784|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24183960|PMID:24268868|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25214167|PMID:25239116|PMID:25326637|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26246073|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161364|PMID:27247418|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27930701|PMID:27974200|PMID:28002430|PMID:28087426|PMID:28138913|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28255936|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28420666 11977332 LOC100978529 myosin-7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28481356|PMID:28492532|PMID:28518168|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29300372|PMID:29343710|PMID:29398688|PMID:29420653|PMID:29661763|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:30022097|PMID:30165862|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30531895|PMID:30588760|PMID:30623132|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30871747|PMID:31006259|PMID:31110529|PMID:31112422|PMID:31199839|PMID:31308319|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:32013205|PMID:32165824|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32481709|PMID:32492895|PMID:32612965|PMID:32746448|PMID:32833721|PMID:32880476|PMID:32894683|PMID:32960281|PMID:32968017|PMID:33087929|PMID:33190526|PMID:33297573|PMID:33302605|PMID:33382884|PMID:33487615|PMID:33673806|PMID:34067482|PMID:34310159|PMID:34542152|PMID:34598319|PMID:34615813|PMID:35535697|PMID:35544052|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7815466|PMID:7874131|PMID:7883988|PMID:7994801|PMID:8180512|PMID:8194835|PMID:8196066|PMID:8250038|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8375803|PMID:8435239|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779 11977332 LOC100978529 myosin-7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532|PMID:28518168|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28840316|PMID:28912206|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29300372|PMID:29343710|PMID:29398688|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29661763|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:30022097|PMID:30052928|PMID:30165862|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30531895|PMID:30588760|PMID:30623132|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30871747|PMID:31006259|PMID:31110529|PMID:31112422|PMID:31199839|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:32013205|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32481709|PMID:32492895|PMID:32612965|PMID:32627857|PMID:32746448|PMID:32833721|PMID:32880476|PMID:32894683|PMID:32931854|PMID:32960281|PMID:32968017|PMID:33087929|PMID:33190526|PMID:33297573|PMID:33302605|PMID:33309763|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33673806|PMID:34067482|PMID:34310159|PMID:34426522|PMID:34503678|PMID:34542152|PMID:34598319|PMID:34615813|PMID:34949102|PMID:35535697|PMID:35544052|PMID:35653365|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7815466|PMID:7874131|PMID:7883988|PMID:7994801|PMID:8180512|PMID:8194835|PMID:8196066|PMID:8250038|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8375803|PMID:8435239|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779 11977332 LOC100978529 myosin-7 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:736718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:25741868 11977332 LOC100978529 myosin-7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:7240710 20180130 OMIM 11977332 LOC100978529 myosin-7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10424815|PMID:10521296|PMID:10563488|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11733062|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12473556|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12749056|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:1361491|PMID:13732753|PMID:1423936|PMID:1430197|PMID:1472461|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15010274|PMID:15114369|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15550524|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16630450|PMID:16650083|PMID:16684601|PMID:16715312|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17019812|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17336526|PMID:17351073|PMID:17372140|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17599605|PMID:17612745|PMID:17703256|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18076673|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18761664|PMID:18953637|PMID:19134269|PMID:19138847|PMID:19149795|PMID:19150014|PMID:19336582|PMID:19412328|PMID:1944483|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808347|PMID:19808356|PMID:19864899|PMID:19880069|PMID:19913502|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20215591|PMID:20298698|PMID:20309391|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20394946|PMID:20428263|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20573160|PMID:20624503|PMID:20641121|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20738943|PMID:20800588|PMID:20811150|PMID:20817590|PMID:20819418|PMID:20865685|PMID:20965760|PMID:20975235|PMID:20981092|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21425739|PMID:21426742|PMID:21483645|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21943931|PMID:21958740|PMID:21959974|PMID:22112859|PMID:22213221|PMID:22260945|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22784669|PMID:22811549|PMID:22857948|PMID:22859017|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23197161|PMID:23233322|PMID:23271734|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086 11977332 LOC100978529 myosin-7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25228707|PMID:25239116|PMID:25326635|PMID:25326637|PMID:25327599|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25448463|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26199943|PMID:26220970|PMID:26332594|PMID:26446785|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26688388|PMID:26743238|PMID:26782017|PMID:26846766|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27066506|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161882|PMID:27247418|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27576561|PMID:27600940|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27788187|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28005231|PMID:28067235|PMID:28087426|PMID:28125727|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28588093|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28878402|PMID:28971120|PMID:28973424|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29178653|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29398688|PMID:29420653|PMID:29447731|PMID:29661763|PMID:29709087|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915097|PMID:29970176|PMID:30022097|PMID:30165862|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30511546|PMID:30531895|PMID:30731207|PMID:30745532|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:31006259|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31517061|PMID:31568572|PMID:31589614|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:32013205|PMID:3203908|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32380161|PMID:32381727|PMID:32481709|PMID:32528171|PMID:32746448|PMID:32894683|PMID:33087929|PMID:33297573|PMID:33673806|PMID:34008892|PMID:34067482|PMID:34135346|PMID:34540771|PMID:4104682|PMID:7581410|PMID:7662452|PMID:7731997|PMID:7786104|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7848420|PMID:7848441|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8186698|PMID:8250038|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8343162|PMID:8435239|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9271024|PMID:9536098|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9874056|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25228707|PMID:25239116|PMID:25326635|PMID:25326637|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26076356|PMID:26187847|PMID:26199943|PMID:26220970|PMID:26246073|PMID:26332594|PMID:26446785|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26688388|PMID:26743238|PMID:26782017|PMID:26846766|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27066506|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161882|PMID:27247418|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27576561|PMID:27600940|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27788187|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28005231|PMID:28067235|PMID:28087426|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28588093|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28878402|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29178653|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29398688|PMID:29420653|PMID:29540472|PMID:29661763|PMID:29709087|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915097|PMID:29970176|PMID:30022097|PMID:30165862|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30731207|PMID:30745532|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:31006259|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31199839|PMID:31308319|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31517061|PMID:31568572|PMID:31589614|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:31931689|PMID:32013205|PMID:3203908|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32381727|PMID:32481709|PMID:32528171|PMID:32746448|PMID:32880476|PMID:32894683|PMID:33087929|PMID:33297573|PMID:33673806|PMID:34008892|PMID:34067482|PMID:34135346|PMID:34540771|PMID:35535697|PMID:4104682|PMID:7581410|PMID:7662452|PMID:7731997|PMID:7786104|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7848420|PMID:7848441|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8186698|PMID:8250038|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8343162|PMID:8435239|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9271024|PMID:9536098|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9874056|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25228707|PMID:25239116|PMID:25326635|PMID:25326637|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26199943|PMID:26220970|PMID:26246073|PMID:26332594|PMID:26446785|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26688388|PMID:26743238|PMID:26782017|PMID:26846766|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27066506|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161882|PMID:27247418|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27576561|PMID:27600940|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27788187|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28005231|PMID:28067235|PMID:28087426|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28588093|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28878402|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29178653|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29398688|PMID:29420653|PMID:29540472|PMID:29661763|PMID:29709087|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915097|PMID:29970176|PMID:30022097|PMID:30165862|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30731207|PMID:30745532|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:31006259|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31199839|PMID:31308319|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31517061|PMID:31568572|PMID:31589614|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:31931689|PMID:32013205|PMID:3203908|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32381727|PMID:32481709|PMID:32528171|PMID:32746448|PMID:32880476|PMID:32894683|PMID:33087929|PMID:33297573|PMID:33673806|PMID:34008892|PMID:34067482|PMID:34135346|PMID:34540771|PMID:35535697|PMID:4104682|PMID:7581410|PMID:7662452|PMID:7731997|PMID:7786104|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7848420|PMID:7848441|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8186698|PMID:8250038|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8343162|PMID:8435239|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9271024|PMID:9536098|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9874056|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10424815|PMID:10521296|PMID:10563488|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11733062|PMID:11748309|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12016059|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12473556|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12749056|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:1361491|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14656445|PMID:1472461|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15010274|PMID:15114369|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15386449|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15550524|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16630450|PMID:16650083|PMID:16684601|PMID:16715312|PMID:16754800|PMID:16858239|PMID:16870472|PMID:16918501|PMID:16938236|PMID:17019812|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17336526|PMID:17351073|PMID:17372140|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17502101|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17599605|PMID:17612745|PMID:17703256|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18076673|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18761664|PMID:18953637|PMID:19138847|PMID:19149795|PMID:19150014|PMID:19336582|PMID:19412328|PMID:1944483|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808347|PMID:19808356|PMID:19864899|PMID:19880069|PMID:19913502|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20309391|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20394946|PMID:20428263|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20641121|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20738943|PMID:20800588|PMID:20811150|PMID:20817590|PMID:20819418|PMID:20865685|PMID:20965760|PMID:20975235|PMID:20981092|PMID:21127202|PMID:21211974|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21425739|PMID:21426742|PMID:21483645|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21943931|PMID:21958740|PMID:21959974|PMID:22112859|PMID:22213221|PMID:22260945|PMID:22267749|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22784669|PMID:22811549|PMID:22857948|PMID:22859017|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23197161|PMID:23233322|PMID:23271734|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24691700|PMID:24704860 11977332 LOC100978529 myosin-7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:24721642|PMID:24749114|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25214167|PMID:25228707|PMID:25239116|PMID:25326635|PMID:25326637|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26199943|PMID:26220970|PMID:26246073|PMID:26332594|PMID:26446785|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26782017|PMID:26846766|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161882|PMID:27247418|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27576561|PMID:27600940|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27788187|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28005231|PMID:28067235|PMID:28087426|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28588093|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29073106|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29178653|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29398688|PMID:29420653|PMID:29447731|PMID:29540472|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915097|PMID:29915098|PMID:29970176|PMID:30022097|PMID:30105547|PMID:30165862|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30615648|PMID:30731207|PMID:30745532|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31195250|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31517061|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:31931689|PMID:32013205|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32381727|PMID:32481709|PMID:32492895|PMID:32528171|PMID:32612965|PMID:32659924|PMID:32746448|PMID:32880476|PMID:32894683|PMID:32960281|PMID:32968017|PMID:33019804|PMID:33087929|PMID:33297573|PMID:33302605|PMID:33382884|PMID:33407484|PMID:33487615|PMID:33658040|PMID:33673806|PMID:33764162|PMID:34008892|PMID:34067482|PMID:34135346|PMID:34310159|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34615813|PMID:34621001|PMID:35535697|PMID:4104682|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7786104|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7815466|PMID:7848420|PMID:7848441|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8250038|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8343162|PMID:8375803|PMID:8435239|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9047366|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541100 11977332 LOC100978529 myosin-7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9874056|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10424815|PMID:10521296|PMID:10563488|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11733062|PMID:11748309|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12016059|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12473556|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12749056|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:1361491|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14656445|PMID:14659406|PMID:1472461|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15010274|PMID:15114369|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15386449|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15550524|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16630450|PMID:16650083|PMID:16684601|PMID:16715312|PMID:16754800|PMID:16858239|PMID:16870472|PMID:16918501|PMID:16938236|PMID:17019812|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17336526|PMID:17351073|PMID:17372140|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17502101|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17599605|PMID:17612745|PMID:17703256|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18076673|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19138847|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19336582|PMID:19412328|PMID:1944483|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:19913502|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20309391|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20394946|PMID:20428263|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20641121|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20738943|PMID:20800588|PMID:20811150|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20865685|PMID:20965760|PMID:20975235|PMID:20981092|PMID:21127202|PMID:21211974|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21425739|PMID:21426742|PMID:21483645|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21817903|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21943931|PMID:21958740|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22260945|PMID:22267749|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22784669|PMID:22811549|PMID:22857948|PMID:22859017|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23271734|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960 11977332 LOC100978529 myosin-7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:24215330|PMID:24268868|PMID:24298987|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24721642|PMID:24749114|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25214167|PMID:25228707|PMID:25239116|PMID:25326635|PMID:25326637|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25447171|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26199943|PMID:26220970|PMID:26246073|PMID:26332594|PMID:26383716|PMID:26446785|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26688388|PMID:26718681|PMID:26743238|PMID:26782017|PMID:26846766|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161882|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27282841|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27576561|PMID:27600940|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27788187|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28005231|PMID:28067235|PMID:28087426|PMID:28125727|PMID:28138913|PMID:28152038|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28971120|PMID:28973424|PMID:28986452|PMID:28986455|PMID:29029073|PMID:29030401|PMID:29073106|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29178653|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29398688|PMID:29420653|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915097|PMID:29915098|PMID:29970176|PMID:30022097|PMID:30025578|PMID:30105547|PMID:30122538|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30403391|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30615648|PMID:30696458|PMID:30731207|PMID:30745532|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31195250|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31517061|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:31931689|PMID:32013205|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32381727|PMID:32481709|PMID:32492895|PMID:32528171|PMID:32531501|PMID:32612965|PMID:32659924|PMID:32746448|PMID:32815737|PMID:32880476|PMID:32894683|PMID:32960281|PMID:32968017|PMID:33019804|PMID:33087929|PMID:33190526|PMID:33297573|PMID:33302605|PMID:33382884|PMID:33407484|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33658040|PMID:33673806|PMID:33764162|PMID:34008892|PMID:34067482|PMID:34135346|PMID:34310159|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34615813|PMID:34621001|PMID:35535697|PMID:35544052|PMID:4104682|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7786104|PMID:7788887|PMID:7789380 11977332 LOC100978529 myosin-7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:7796500|PMID:7815466|PMID:7848420|PMID:7848441|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8250038|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8343162|PMID:8375803|PMID:8435239|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9047366|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9874056|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10424815|PMID:10521296|PMID:10563488|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11733062|PMID:11748309|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12016059|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12473556|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12749056|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:1361491|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14656445|PMID:14659406|PMID:1472461|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15010274|PMID:15114369|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15386449|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15550524|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16630450|PMID:16650083|PMID:16684601|PMID:16715312|PMID:16754800|PMID:16858239|PMID:16870472|PMID:16918501|PMID:16938236|PMID:17019812|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17336526|PMID:17351073|PMID:17372140|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17502101|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17599605|PMID:17612745|PMID:17703256|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18076673|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19138847|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19336582|PMID:19412328|PMID:1944483|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:19913502|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20309391|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20394946|PMID:20428263|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20641121|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20738943|PMID:20800588|PMID:20811150|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20865685|PMID:20965760|PMID:20975235|PMID:20981092|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21425739|PMID:21426742|PMID:21483645|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21817903|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21943931|PMID:21958740|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22260945|PMID:22267749|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22784669|PMID:22811549|PMID:22857948|PMID:22859017|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23271734|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960 11977332 LOC100978529 myosin-7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:24215330|PMID:24268868|PMID:24298987|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24721642|PMID:24749114|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25214167|PMID:25228707|PMID:25239116|PMID:25326635|PMID:25326637|PMID:25327599|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25447171|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26178432|PMID:26187847|PMID:26199943|PMID:26220970|PMID:26246073|PMID:26332594|PMID:26383716|PMID:26446785|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26688388|PMID:26718681|PMID:26743238|PMID:26782017|PMID:26846766|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161882|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27282841|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27576561|PMID:27600940|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27788187|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28005231|PMID:28067235|PMID:28087426|PMID:28125727|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28699631|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28912206|PMID:28971120|PMID:28973424|PMID:28986452|PMID:28986455|PMID:29029073|PMID:29030401|PMID:29073106|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29178653|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29343803|PMID:29398688|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29517769|PMID:29540472|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915097|PMID:29915098|PMID:29970176|PMID:30022097|PMID:30025578|PMID:30052928|PMID:30105547|PMID:30122538|PMID:30165862|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30403391|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30615648|PMID:30696458|PMID:30731207|PMID:30745532|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31195250|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31517061|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:31931689|PMID:31983221|PMID:32013205|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32381727|PMID:32481709|PMID:32492895|PMID:32528171|PMID:32531501|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32710294|PMID:32746448|PMID:32815737|PMID:32833721|PMID:32880476|PMID:32894683|PMID:32931854|PMID:32960281|PMID:32968017|PMID:33019804|PMID:33087929|PMID:33190526|PMID:33232181|PMID:33297573|PMID:33302605|PMID:33309763|PMID:33382884|PMID:33407484|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33658040|PMID:33673806|PMID:33764162|PMID:33906374|PMID:34008892|PMID:34036930 11977332 LOC100978529 myosin-7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:34067482|PMID:34135346|PMID:34310159|PMID:34426522|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34615813|PMID:34621001|PMID:34691145|PMID:34949102|PMID:35063694|PMID:35456187|PMID:35535697|PMID:35544052|PMID:35653365|PMID:36129056|PMID:4104682|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7786104|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7815466|PMID:7848420|PMID:7848441|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8250038|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8343162|PMID:8375803|PMID:8435239|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9047366|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9874056|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:23233322|PMID:24111713|PMID:25741868|PMID:28492532|PMID:34460321 11977332 LOC100978529 myosin-7 gene DOID:0110320 hypertrophic cardiomyopathy 14 ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 PMID:28492532 11977332 LOC100978529 myosin-7 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:24033266|PMID:25741868|PMID:28492532|PMID:30105547 11977332 LOC100978529 myosin-7 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:10521296|PMID:11186938|PMID:11447480|PMID:12951062|PMID:15358028|PMID:15769782|PMID:16858239|PMID:17125710|PMID:17192269|PMID:18029407|PMID:19880069|PMID:20031618|PMID:21302287|PMID:21310275|PMID:21482996|PMID:21750094|PMID:21943931|PMID:22464770|PMID:22857948|PMID:22975586|PMID:23233322|PMID:23283745|PMID:23299917|PMID:24033266|PMID:24038877|PMID:24093860|PMID:24111713|PMID:24503780|PMID:24793961|PMID:25031304|PMID:25351510|PMID:25448463|PMID:25637381|PMID:25741868|PMID:26025024|PMID:26743238|PMID:26969327|PMID:27247418|PMID:27532257|PMID:27600940|PMID:27737317|PMID:27831900|PMID:28138913|PMID:28420666|PMID:28492532|PMID:28606303|PMID:28615295|PMID:28790153|PMID:29093449|PMID:29300372|PMID:29773157|PMID:30291343|PMID:30755392|PMID:31006259|PMID:31110529|PMID:31447099|PMID:31589614|PMID:32233023|PMID:32880476|PMID:33297573|PMID:33673806|PMID:7581410 11977332 LOC100978529 myosin-7 gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:736718 D RGD:7240710 20180130 OMIM 11977332 LOC100978529 myosin-7 gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Biventricular noncompaction cardiomyopathy | ClinVar Annotator: match by term: Dilated cardiomyopathy 1S | ClinVar Annotator: match by term: Left ventricular noncompaction 5 PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11106718|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12749056|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:15000344|PMID:15010274|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16684601|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:16983074|PMID:17019812|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17336526|PMID:17351073|PMID:17372140|PMID:17383184|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18258667|PMID:18374998|PMID:18380764|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19138847|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19336582|PMID:19412328|PMID:1944483|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20738943|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20965760|PMID:20975235|PMID:20981092|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21425739|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21943931|PMID:21958740|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22177269|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22859017|PMID:22918376|PMID:22949430|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23313350|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25214167|PMID:25228707|PMID:25239116|PMID:25326635|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25447171|PMID:25448463|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25607779|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937279 11977332 LOC100978529 myosin-7 gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Biventricular noncompaction cardiomyopathy | ClinVar Annotator: match by term: Dilated cardiomyopathy 1S | ClinVar Annotator: match by term: Left ventricular noncompaction 5 PMID:25937619|PMID:25961035|PMID:26025024|PMID:26187847|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26446785|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26688388|PMID:26718681|PMID:26743238|PMID:26846766|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27082122|PMID:27153395|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27387980|PMID:27483260|PMID:2753225|PMID:27532257|PMID:27574918|PMID:27576561|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27788187|PMID:27831900|PMID:27841901|PMID:27884173|PMID:2790153|PMID:27930701|PMID:27965028|PMID:27974200|PMID:28045975|PMID:28125727|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28912206|PMID:28971120|PMID:28973424|PMID:28986452|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29178653|PMID:29192238|PMID:29212898|PMID:29253866|PMID:29255176|PMID:29300372|PMID:29343710|PMID:29343803|PMID:29398688|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29661763|PMID:29666183|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29867217|PMID:29875424|PMID:29892087|PMID:29907873|PMID:29915098|PMID:29970176|PMID:30022097|PMID:30122538|PMID:30165862|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30371277|PMID:30403391|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30578397|PMID:30588760|PMID:30665703|PMID:30674652|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:30996762|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31737537|PMID:31771441|PMID:31918855|PMID:31931472|PMID:31931689|PMID:31983221|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32458740|PMID:32492895|PMID:32528171|PMID:32531501|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32746448|PMID:32789579|PMID:32880476|PMID:32894683|PMID:32931854|PMID:33232181|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33764162|PMID:33906374|PMID:34008892|PMID:34011823|PMID:34036930|PMID:34426522|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34949102|PMID:35050212|PMID:35265679|PMID:35535697|PMID:35653365|PMID:36129056|PMID:4104682|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:0111267 hyaline body myopathy ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyaline body myopathy | ClinVar Annotator: match by term: Myosin storage myopathy PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14520662|PMID:14563299|PMID:14659406|PMID:14663035|PMID:15000344|PMID:15010274|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15699387|PMID:15699411|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15857933|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16684601|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17097032|PMID:17118657|PMID:17125710|PMID:17180650|PMID:17336526|PMID:17351073|PMID:17372140|PMID:17383184|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19138847|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19336582|PMID:19412328|PMID:1944483|PMID:19477645|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20301436|PMID:20350521|PMID:20359594|PMID:20376763|PMID:20378854|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21288719|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24721642|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25576864|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175 11977332 LOC100978529 myosin-7 gene DOID:0111267 hyaline body myopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hyaline body myopathy | ClinVar Annotator: match by term: Myosin storage myopathy PMID:26688388|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27082122|PMID:27153395|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27387980|PMID:27483260|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28125727|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28912206|PMID:28927399|PMID:28971120|PMID:28973424|PMID:28986452|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29253866|PMID:29300372|PMID:29343710|PMID:29343803|PMID:29398688|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29892087|PMID:29907873|PMID:29915098|PMID:29970176|PMID:30022097|PMID:30122538|PMID:30165862|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30371277|PMID:30403391|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32458740|PMID:32492895|PMID:32528171|PMID:32531501|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32880476|PMID:32894683|PMID:32931854|PMID:33232181|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34008892|PMID:34426522|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34949102|PMID:35535697|PMID:35653365|PMID:36129056|PMID:4104682|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:0111268 autosomal recessive hyaline body myopathy ISO RGD:736718 D RGD:7240710 20180130 OMIM 11977332 LOC100978529 myosin-7 gene DOID:0111268 autosomal recessive hyaline body myopathy ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 7B, MYOSIN STORAGE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Myopathy, myosin storage, autosomal recessive PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:15000344|PMID:15010274|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17125710|PMID:17180650|PMID:17351073|PMID:17372140|PMID:17383184|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18565996|PMID:18660445|PMID:18761664|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19336582|PMID:19412328|PMID:1944483|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20439259|PMID:20513729|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163546|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27082122|PMID:27153395|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27387980|PMID:27483260|PMID:27532257|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:2790153|PMID:27974200|PMID:28125727|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639 11977332 LOC100978529 myosin-7 gene DOID:0111268 autosomal recessive hyaline body myopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 7B, MYOSIN STORAGE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Myopathy, myosin storage, autosomal recessive PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28912206|PMID:28971120|PMID:28973424|PMID:28986452|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29343803|PMID:29398688|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:29970176|PMID:30022097|PMID:30122538|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32492895|PMID:32531501|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32710294|PMID:32880476|PMID:32894683|PMID:32931854|PMID:33232181|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34426522|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34691145|PMID:34949102|PMID:35535697|PMID:35653365|PMID:36129056|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:0111269 autosomal dominant hyaline body myopathy ISO RGD:736718 D RGD:7240710 20180130 OMIM 11977332 LOC100978529 myosin-7 gene DOID:0111269 autosomal dominant hyaline body myopathy ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT PMID:10024460|PMID:10065021|PMID:10328076|PMID:10521296|PMID:10725281|PMID:10750581|PMID:10882745|PMID:10900182|PMID:11133230|PMID:11186938|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11968089|PMID:12081993|PMID:12379228|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12974739|PMID:12975413|PMID:1430197|PMID:14520662|PMID:15010274|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15699387|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16253604|PMID:16267253|PMID:1638703|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:17125710|PMID:17336526|PMID:17372140|PMID:17438619|PMID:17476457|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18519860|PMID:18533079|PMID:18555187|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19336582|PMID:19412328|PMID:1944483|PMID:19477645|PMID:19645038|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20086309|PMID:20350521|PMID:20359594|PMID:20474083|PMID:20530761|PMID:20624503|PMID:20664766|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20975235|PMID:21127202|PMID:21239446|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24298987|PMID:24503780|PMID:24510615|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24721642|PMID:24758099|PMID:24793961|PMID:25031304|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25576864|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25935763|PMID:25937619|PMID:26220970|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26688388|PMID:26743238|PMID:26914223|PMID:26936621|PMID:26969327|PMID:27066506|PMID:27082122|PMID:27153395|PMID:27247418|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27930701|PMID:27974200|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28606303|PMID:28615295|PMID:28704380|PMID:28750076|PMID:28790153|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28878402|PMID:28971120|PMID:29121657|PMID:29212898|PMID:29253866|PMID:29300372|PMID:29540472|PMID:29892087|PMID:29907873|PMID:29915098|PMID:30165862|PMID:30217213|PMID:30291343|PMID:30297972|PMID:30371277|PMID:30403391|PMID:30511546|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30924982|PMID:31006259|PMID:31110529|PMID:31199839|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31737537|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32458740|PMID:32528171|PMID:32659924|PMID:32880476|PMID:33297573|PMID:33673806|PMID:34008892|PMID:34540771|PMID:34542152|PMID:34598319|PMID:7581410|PMID:7662452|PMID:7731997|PMID:7848420|PMID:7883988|PMID:7909436|PMID:8186698|PMID:8254035|PMID:8268932|PMID:8533830|PMID:8614836|PMID:8981935|PMID:9105042|PMID:9140839|PMID:9536098 11977332 LOC100978529 myosin-7 gene DOID:0111269 autosomal dominant hyaline body myopathy ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT PMID:9826622|PMID:9835779|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:0111269 autosomal dominant hyaline body myopathy ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Scapuloperoneal myopathy, MYH7-related PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:15000344|PMID:15010274|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17351073|PMID:17372140|PMID:17383184|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19412328|PMID:1944483|PMID:19477645|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24721642|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25576864|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26688388|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27082122|PMID:27153395 11977332 LOC100978529 myosin-7 gene DOID:0111269 autosomal dominant hyaline body myopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Scapuloperoneal myopathy, MYH7-related PMID:27194543|PMID:27224906|PMID:27247418|PMID:27387980|PMID:27483260|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28912206|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29253866|PMID:29300372|PMID:29343710|PMID:29343803|PMID:29398688|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29892087|PMID:29907873|PMID:29915098|PMID:29970176|PMID:30022097|PMID:30122538|PMID:30165862|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30371277|PMID:30403391|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32458740|PMID:32492895|PMID:32528171|PMID:32531501|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32880476|PMID:32894683|PMID:32931854|PMID:33232181|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34008892|PMID:34426522|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34949102|PMID:35535697|PMID:35653365|PMID:36129056|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:0111962 combined immunodeficiency ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:10521296|PMID:11186938|PMID:11447480|PMID:15358028|PMID:16858239|PMID:17125710|PMID:18029407|PMID:19880069|PMID:20031618|PMID:21310275|PMID:22857948|PMID:22975586|PMID:23233322|PMID:23283745|PMID:23299917|PMID:24033266|PMID:24038877|PMID:24093860|PMID:24111713|PMID:24793961|PMID:25031304|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26743238|PMID:26969327|PMID:27247418|PMID:27532257|PMID:27737317|PMID:27831900|PMID:28138913|PMID:28420666|PMID:28492532|PMID:28606303|PMID:28615295|PMID:28790153|PMID:30291343|PMID:30755392|PMID:31006259|PMID:31110529|PMID:31447099|PMID:31589614|PMID:32233023|PMID:33297573|PMID:33673806|PMID:7581410 11977332 LOC100978529 myosin-7 gene DOID:10763 hypertension ISO RGD:62030 D RGD:9068941 20200609 RGD protein:decreased expression:heart left ventricle, arteriole PMID:9686760|REF_RGD_ID:9835388 11977332 LOC100978529 myosin-7 gene DOID:10763 hypertension ISO RGD:736718 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32147540 11977332 LOC100978529 myosin-7 gene DOID:114 heart disease ISO RGD:736718 D RGD:9068941 20221027 RGD mRNA, protein:increased expression:heart (human) PMID:26597775|REF_RGD_ID:11554891 11977332 LOC100978529 myosin-7 gene DOID:11720 distal myopathy ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10024460|PMID:10065021|PMID:10328076|PMID:10424815|PMID:10521296|PMID:10563488|PMID:10725281|PMID:10750581|PMID:10882745|PMID:10900182|PMID:11133230|PMID:11186938|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11968089|PMID:12081993|PMID:12379228|PMID:12566107|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12974739|PMID:12975413|PMID:1430197|PMID:15010274|PMID:15114369|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16253604|PMID:16267253|PMID:1638703|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:17125710|PMID:17372140|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:18555187|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19412328|PMID:1944483|PMID:19477645|PMID:19645038|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20086309|PMID:20350521|PMID:20359594|PMID:20474083|PMID:20530761|PMID:20624503|PMID:20664766|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21239446|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21811976|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24298987|PMID:24503780|PMID:24510615|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24721642|PMID:24726209|PMID:24758099|PMID:24793961|PMID:24953931|PMID:25031304|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25342278|PMID:25351510|PMID:25447691|PMID:25524337|PMID:25576864|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25935763|PMID:25937619|PMID:26220970|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26688388|PMID:26743238|PMID:26914223|PMID:26936621|PMID:26969327|PMID:27066506|PMID:27082122|PMID:27153395|PMID:27247418|PMID:27483260|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27930701|PMID:27974200|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28606303|PMID:28615295|PMID:28704380|PMID:28750076|PMID:28790153|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28878402|PMID:28971120|PMID:29121657|PMID:29212898|PMID:29300372|PMID:29540472|PMID:29907873|PMID:29915098|PMID:30165862|PMID:30166250|PMID:30217213|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30511546|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30924982|PMID:31006259|PMID:31110529|PMID:31199839|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31737537|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32528171|PMID:32659924|PMID:32880476|PMID:32894683|PMID:33297573|PMID:33298082|PMID:33673806|PMID:34008892|PMID:34540771|PMID:34542152|PMID:34598319|PMID:7581410|PMID:7662452|PMID:7731997 11977332 LOC100978529 myosin-7 gene DOID:11720 distal myopathy ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:7786104|PMID:7848420|PMID:7883988|PMID:7909436|PMID:8186698|PMID:8254035|PMID:8268932|PMID:8533830|PMID:8614836|PMID:8981935|PMID:9105042|PMID:9140839|PMID:9536098|PMID:9826622|PMID:9835779|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:11720 distal myopathy ISO RGD:736718 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal myopathy | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10424815|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17125710|PMID:17180650|PMID:17351073|PMID:17372140|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19412328|PMID:1944483|PMID:19477645|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20474083|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24721642|PMID:24726209|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:24953931|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25447691|PMID:25467552|PMID:25524337|PMID:25576864|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26688388|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27082122|PMID:27153395|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27483260|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:27707468 11977332 LOC100978529 myosin-7 gene DOID:11720 distal myopathy ISO RGD:736718 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal myopathy | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:27737317|PMID:27831900|PMID:27841901|PMID:27930701|PMID:27974200|PMID:28138913|PMID:28152038|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:30022097|PMID:30122538|PMID:30165862|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30403391|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32492895|PMID:32528171|PMID:32531501|PMID:32612965|PMID:32659924|PMID:32880476|PMID:32894683|PMID:33297573|PMID:33298082|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:34008892|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34598319|PMID:35535697|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7786104|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:11720 distal myopathy ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10424815|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17351073|PMID:17372140|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19412328|PMID:1944483|PMID:19477645|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24721642|PMID:24726209|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:24953931|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25447691|PMID:25467552|PMID:25524337|PMID:25576864|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26688388|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27082122|PMID:27153395|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27387980 11977332 LOC100978529 myosin-7 gene DOID:11720 distal myopathy ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:27483260|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27930701|PMID:27974200|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29398688|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:30022097|PMID:30122538|PMID:30165862|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30403391|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:30996762|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32492895|PMID:32528171|PMID:32531501|PMID:32612965|PMID:32659924|PMID:32880476|PMID:32894683|PMID:33232181|PMID:33297573|PMID:33298082|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34008892|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34598319|PMID:35535697|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7786104|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:11720 distal myopathy ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10424815|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17351073|PMID:17372140|PMID:17383184|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19412328|PMID:1944483|PMID:19477645|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24721642|PMID:24726209|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:24953931|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25447691|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25576864|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26688388|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166 11977332 LOC100978529 myosin-7 gene DOID:11720 distal myopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:27066506|PMID:27082122|PMID:27153395|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27387980|PMID:27483260|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28912206|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29343803|PMID:29398688|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:29970176|PMID:30022097|PMID:30122538|PMID:30165862|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30403391|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:30996762|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32492895|PMID:32528171|PMID:32531501|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32880476|PMID:32894683|PMID:32931854|PMID:33232181|PMID:33297573|PMID:33298082|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34008892|PMID:34426522|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34949102|PMID:35535697|PMID:35653365|PMID:36129056|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7786104|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10424815|PMID:10521296|PMID:10563488|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10679957|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11106718|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11499719|PMID:11723028|PMID:11733062|PMID:11748309|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12016059|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12473556|PMID:12566107|PMID:12590187|PMID:12601548|PMID:12707239|PMID:12749056|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:1361491|PMID:13732753|PMID:1417858|PMID:1423936|PMID:1430197|PMID:14520662|PMID:14563299|PMID:14656445|PMID:14659406|PMID:1472461|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15010274|PMID:15114369|PMID:15136674|PMID:15184651|PMID:15322983|PMID:15358028|PMID:15386449|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15550524|PMID:15556047|PMID:15563892|PMID:15699387|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15857933|PMID:15858117|PMID:15940186|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16630450|PMID:16650083|PMID:16684601|PMID:16715312|PMID:16754800|PMID:16858239|PMID:16870472|PMID:16918501|PMID:16938236|PMID:16983074|PMID:17019812|PMID:17095604|PMID:17097032|PMID:17118657|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17336526|PMID:17351073|PMID:17372140|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17502101|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17599605|PMID:17612745|PMID:17643520|PMID:17703256|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18076673|PMID:18159245|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18374998|PMID:18380764|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19035361|PMID:19134269|PMID:19138847|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19336582|PMID:19412328|PMID:1944483|PMID:19477645|PMID:19586842|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808347|PMID:19808356|PMID:19843903|PMID:19854198|PMID:19864899|PMID:19880069|PMID:19913502|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20038417|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20301436|PMID:20309391|PMID:20350521|PMID:20359594|PMID:20376763|PMID:20378854|PMID:20394946|PMID:20428263|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20573160|PMID:2062450|PMID:20624503|PMID:20641121|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20738943|PMID:20800588|PMID:20811150|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20865685|PMID:20952769|PMID:20965760|PMID:20975235|PMID:20981092|PMID:21127202|PMID:21183079|PMID:21185001|PMID:21211974|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21288719|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21425739|PMID:21426742|PMID:21482996|PMID:21483645|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21817903|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21846512|PMID:21896538|PMID:21943931|PMID:21958740|PMID:21959974|PMID:22037585|PMID:22112859|PMID:22155079|PMID:22177269|PMID:22213221|PMID:22260945|PMID:22267749|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22784669|PMID:22811549|PMID:22857948|PMID:22859017|PMID:22918376|PMID:22949430|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321 11977332 LOC100978529 myosin-7 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23153285|PMID:23197161|PMID:23197398|PMID:23233322|PMID:23271734|PMID:23274168|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23313350|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23426552|PMID:23478172|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:23870641|PMID:23956225|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24215330|PMID:24268868|PMID:24298987|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24558114|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24721642|PMID:24749114|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:24963656|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25182012|PMID:25189259|PMID:25214167|PMID:25228707|PMID:25239116|PMID:25326635|PMID:25327599|PMID:25332820|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25422285|PMID:25447171|PMID:25447691|PMID:25448463|PMID:25467552|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25547560|PMID:25558701|PMID:25569433|PMID:25576864|PMID:25607779|PMID:25611685|PMID:25637381|PMID:25640679|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25931334|PMID:25935763|PMID:25937279|PMID:25937619|PMID:25961035|PMID:25979592|PMID:26025024|PMID:26084686|PMID:26150528|PMID:26162782|PMID:26178432|PMID:26187847|PMID:26199943|PMID:26220970|PMID:26223264|PMID:26246073|PMID:26271555|PMID:26272908|PMID:26332594|PMID:26337809|PMID:26383716|PMID:26406308|PMID:26446785|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26654849|PMID:26656175|PMID:26688388|PMID:26718681|PMID:26743238|PMID:26782017|PMID:26846766|PMID:26899768|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161364|PMID:27161882|PMID:27194543|PMID:27217341|PMID:27224906|PMID:27247418|PMID:27282841|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27519903|PMID:27527004|PMID:2753225|PMID:27532257|PMID:27574918|PMID:27576561|PMID:27600940|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27788187|PMID:27831900|PMID:27841901|PMID:27854218|PMID:27884173|PMID:27885498|PMID:2790153|PMID:27930701|PMID:27965028|PMID:27974200|PMID:28002430|PMID:28005231|PMID:28045975|PMID:28067235|PMID:28087426|PMID:28125727|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28395747|PMID:28396031|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28449774|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28642161|PMID:28687478|PMID:28699631|PMID:28704380|PMID:28706299|PMID:28750076|PMID:28759816|PMID:28771489|PMID:28775348|PMID:28777849|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28815794|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28912206|PMID:28927399|PMID:28971120|PMID:28973424|PMID:28986452|PMID:28986455|PMID:29029073|PMID:29030401|PMID:29073106|PMID:29093449|PMID:29095814|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29178653|PMID:29192238|PMID:29212898|PMID:29253866|PMID:29255176|PMID:29300372|PMID:29343710|PMID:29343803|PMID:29386531|PMID:29398688|PMID:29420653|PMID:29447731|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29540472|PMID:29624713|PMID:29631964|PMID:29661763|PMID:29666183|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29867217|PMID:29875424|PMID:29892087|PMID:29907873|PMID:29915097|PMID:29915098|PMID:29970176 11977332 LOC100978529 myosin-7 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:29997562|PMID:30022097|PMID:30025578|PMID:30052928|PMID:30095857|PMID:30105547|PMID:30122538|PMID:30165862|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30298955|PMID:30327538|PMID:30359267|PMID:30371277|PMID:30384889|PMID:30385303|PMID:30403391|PMID:30462978|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30578397|PMID:30588760|PMID:30615648|PMID:30623132|PMID:30665703|PMID:30674652|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30745532|PMID:30755392|PMID:30775854|PMID:30794915|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30972196|PMID:30984009|PMID:30996762|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31064352|PMID:31110529|PMID:31112422|PMID:31130284|PMID:31130376|PMID:31147515|PMID:31156706|PMID:31195250|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31424582|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31514951|PMID:31517061|PMID:31534214|PMID:31568572|PMID:31582565|PMID:31589614|PMID:31638223|PMID:31722741|PMID:31735781|PMID:31737537|PMID:31771441|PMID:31783775|PMID:31790337|PMID:31918855|PMID:31919335|PMID:31931472|PMID:31931689|PMID:31941943|PMID:31977013|PMID:31980526|PMID:31983221|PMID:31983222|PMID:32013205|PMID:3203908|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32381727|PMID:32403337|PMID:32410215|PMID:32422568|PMID:32458740|PMID:32481709|PMID:32492895|PMID:32516855|PMID:32528171|PMID:32531501|PMID:32607476|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32710294|PMID:32731933|PMID:32746448|PMID:32789579|PMID:32815737|PMID:32830170|PMID:32833721|PMID:32880476|PMID:32894683|PMID:32931854|PMID:32960281|PMID:32968017|PMID:32969603|PMID:33019804|PMID:33087929|PMID:33190526|PMID:33232181|PMID:33297573|PMID:33302605|PMID:33309763|PMID:33382884|PMID:33407484|PMID:33448871|PMID:33448881|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33586461|PMID:33605878|PMID:33658040|PMID:33673806|PMID:33764162|PMID:33874732|PMID:33906374|PMID:34008892|PMID:34011823|PMID:34036930|PMID:34067482|PMID:34135346|PMID:34213952|PMID:34263907|PMID:34310159|PMID:34426522|PMID:34460321|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34598319|PMID:34615813|PMID:34621001|PMID:34667957|PMID:34675999|PMID:34691145|PMID:34752814|PMID:34935411|PMID:34949102|PMID:35050212|PMID:35063694|PMID:35265679|PMID:35288587|PMID:35456187|PMID:35535697|PMID:35544052|PMID:35653365|PMID:36129056|PMID:4104682|PMID:7532257|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7648684|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7739336|PMID:7786104|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7815466|PMID:7848420|PMID:7848441|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8250038|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8343162|PMID:8375803|PMID:8435239|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9047366|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9476679|PMID:9503187|PMID:9536098|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9874056|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:11984 hypertrophic cardiomyopathy severity ISO RGD:736718 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.R719W (human) PMID:9154300|REF_RGD_ID:11065270 11977332 LOC100978529 myosin-7 gene DOID:11984 hypertrophic cardiomyopathy treatment ISO RGD:62322 D RGD:9068941 20221110 RGD protein:increased expression:heart (human) PMID:27249171|REF_RGD_ID:155646134 11977332 LOC100978529 myosin-7 gene DOID:12930 dilated cardiomyopathy ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10662815|PMID:10900182|PMID:11106718|PMID:11133230|PMID:12084606|PMID:12379228|PMID:12707239|PMID:12881443|PMID:12951062|PMID:12974739|PMID:12975413|PMID:15001446|PMID:15322983|PMID:15358028|PMID:1552912|PMID:15556047|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16715312|PMID:16754800|PMID:16983074|PMID:17192269|PMID:17351073|PMID:17372140|PMID:1739523|PMID:17495353|PMID:17576681|PMID:17599605|PMID:17947214|PMID:18175163|PMID:18258667|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18555187|PMID:18660445|PMID:19293840|PMID:19412328|PMID:19477645|PMID:1975599|PMID:19808347|PMID:19854198|PMID:19864899|PMID:20031602|PMID:20031619|PMID:20428263|PMID:20474083|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20733148|PMID:20800588|PMID:20965760|PMID:21211974|PMID:21310275|PMID:2136805|PMID:21482996|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21839045|PMID:21943931|PMID:22155079|PMID:22260945|PMID:22337857|PMID:22464770|PMID:22763267|PMID:22918376|PMID:22949430|PMID:22958901|PMID:23054336|PMID:23153285|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23299917|PMID:23313350|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23707328|PMID:23798412|PMID:23861362|PMID:24033266|PMID:24047955|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24344137|PMID:24503780|PMID:24664454|PMID:24691700|PMID:24721642|PMID:24758099|PMID:24829265|PMID:25031304|PMID:25125180|PMID:25163446|PMID:25163546|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25576864|PMID:25607779|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25741868|PMID:25937279|PMID:25961035|PMID:26025024|PMID:26220970|PMID:26383716|PMID:26467025|PMID:26497160|PMID:26688388|PMID:26743238|PMID:27153395|PMID:27247418|PMID:27387980|PMID:2753225|PMID:27532257|PMID:27576561|PMID:27600940|PMID:28045975|PMID:28193612|PMID:28265379|PMID:28416588|PMID:28492532|PMID:28588093|PMID:28750076|PMID:28771251|PMID:28790153|PMID:28798025|PMID:28855170|PMID:29093449|PMID:29212898|PMID:29300372|PMID:29447731|PMID:29666183|PMID:29709087|PMID:29773157|PMID:29867217|PMID:30122538|PMID:30775854|PMID:31006259|PMID:31317183|PMID:31333075|PMID:31568572|PMID:3203908|PMID:32458740|PMID:33673806|PMID:34008892|PMID:34460321|PMID:7731997|PMID:7883988|PMID:7909436|PMID:8250038|PMID:8335820|PMID:8614836|PMID:8655135|PMID:8981935|PMID:9536098|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:12930 dilated cardiomyopathy ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10662815|PMID:10900182|PMID:11106718|PMID:11133230|PMID:12084606|PMID:12379228|PMID:12707239|PMID:12881443|PMID:12951062|PMID:12974739|PMID:12975413|PMID:15001446|PMID:15322983|PMID:15358028|PMID:1552912|PMID:15556047|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16715312|PMID:16754800|PMID:16983074|PMID:17192269|PMID:17351073|PMID:17372140|PMID:1739523|PMID:17495353|PMID:17576681|PMID:17599605|PMID:17947214|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18555187|PMID:18660445|PMID:19293840|PMID:19412328|PMID:19477645|PMID:1975599|PMID:19808347|PMID:19854198|PMID:19864899|PMID:20031602|PMID:20031619|PMID:20428263|PMID:20474083|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20733148|PMID:20800588|PMID:20965760|PMID:21211974|PMID:21310275|PMID:2136805|PMID:21482996|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21750094|PMID:21839045|PMID:21943931|PMID:22155079|PMID:22260945|PMID:22337857|PMID:22464770|PMID:22763267|PMID:22918376|PMID:22949430|PMID:22958901|PMID:23054336|PMID:23153285|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23299917|PMID:23313350|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23707328|PMID:23798412|PMID:23861362|PMID:24033266|PMID:24047955|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24344137|PMID:24503780|PMID:24664454|PMID:24691700|PMID:24721642|PMID:24758099|PMID:24829265|PMID:25031304|PMID:25125180|PMID:25163446|PMID:25163546|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25576864|PMID:25607779|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25741868|PMID:25937279|PMID:25961035|PMID:26025024|PMID:26220970|PMID:26383716|PMID:26467025|PMID:26497160|PMID:26688388|PMID:26743238|PMID:27153395|PMID:27247418|PMID:27373729|PMID:27387980|PMID:2753225|PMID:27532257|PMID:27576561|PMID:27600940|PMID:28045975|PMID:28193612|PMID:28265379|PMID:28416588|PMID:28492532|PMID:28588093|PMID:28750076|PMID:28771251|PMID:28790153|PMID:28798025|PMID:28855170|PMID:29029073|PMID:29093449|PMID:29212898|PMID:29300372|PMID:29447731|PMID:29666183|PMID:29709087|PMID:29773157|PMID:29867217|PMID:29907873|PMID:30122538|PMID:30775854|PMID:31006259|PMID:31317183|PMID:31333075|PMID:31513939|PMID:31568572|PMID:32013205|PMID:3203908|PMID:32283115|PMID:32458740|PMID:33673806|PMID:34008892|PMID:34213952|PMID:34460321|PMID:7731997|PMID:7883988|PMID:7909436|PMID:8250038|PMID:8335820|PMID:8614836|PMID:8655135|PMID:8981935|PMID:9536098|PMID:9541100|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:12930 dilated cardiomyopathy ISO RGD:736718 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10662815|PMID:10900182|PMID:11106718|PMID:11133230|PMID:12084606|PMID:12379228|PMID:12707239|PMID:12881443|PMID:12951062|PMID:12974739|PMID:12975413|PMID:15001446|PMID:15322983|PMID:15358028|PMID:1552912|PMID:15556047|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16715312|PMID:16754800|PMID:16983074|PMID:17192269|PMID:17351073|PMID:17372140|PMID:1739523|PMID:17495353|PMID:17576681|PMID:17599605|PMID:17947214|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18555187|PMID:18660445|PMID:19412328|PMID:19477645|PMID:1975599|PMID:19808347|PMID:19854198|PMID:19864899|PMID:20031602|PMID:20031619|PMID:20428263|PMID:20474083|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20733148|PMID:20800588|PMID:20965760|PMID:21211974|PMID:21310275|PMID:2136805|PMID:21482996|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21943931|PMID:22155079|PMID:22260945|PMID:22337857|PMID:22464770|PMID:22763267|PMID:22918376|PMID:22949430|PMID:22958901|PMID:23054336|PMID:23153285|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23299917|PMID:23313350|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23707328|PMID:23798412|PMID:23861362|PMID:24033266|PMID:24047955|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24344137|PMID:24503780|PMID:24664454|PMID:24691700|PMID:24721642|PMID:24758099|PMID:24829265|PMID:25031304|PMID:25125180|PMID:25163446|PMID:25163546|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25576864|PMID:25607779|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25741868|PMID:25937279|PMID:25961035|PMID:26025024|PMID:26220970|PMID:26383716|PMID:26467025|PMID:26497160|PMID:26688388|PMID:26743238|PMID:27153395|PMID:27247418|PMID:27373729|PMID:2753225|PMID:27532257|PMID:27576561|PMID:27600940|PMID:28045975|PMID:28193612|PMID:28265379|PMID:28416588|PMID:28492532|PMID:28588093|PMID:28750076|PMID:28771251|PMID:28790153|PMID:28798025|PMID:28855170|PMID:29029073|PMID:29093449|PMID:29212898|PMID:29300372|PMID:29447731|PMID:29666183|PMID:29709087|PMID:29773157|PMID:29867217|PMID:29907873|PMID:30122538|PMID:30775854|PMID:31006259|PMID:31317183|PMID:31333075|PMID:31513939|PMID:31568572|PMID:31638223|PMID:31931689|PMID:32013205|PMID:3203908|PMID:32283115|PMID:32458740|PMID:33673806|PMID:34008892|PMID:34213952|PMID:34460321|PMID:7731997|PMID:7883988|PMID:7909436|PMID:8250038|PMID:8335820|PMID:8614836|PMID:8655135|PMID:8981935|PMID:9536098|PMID:9541100|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:12930 dilated cardiomyopathy ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10662815|PMID:10900182|PMID:11106718|PMID:11133230|PMID:12084606|PMID:12379228|PMID:12707239|PMID:12881443|PMID:12951062|PMID:12974739|PMID:12975413|PMID:15001446|PMID:15322983|PMID:15358028|PMID:1552912|PMID:15556047|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16715312|PMID:16754800|PMID:16983074|PMID:17192269|PMID:17351073|PMID:17372140|PMID:1739523|PMID:17495353|PMID:17576681|PMID:17599605|PMID:17947214|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18555187|PMID:18660445|PMID:19293840|PMID:19412328|PMID:19477645|PMID:1975599|PMID:19808347|PMID:19854198|PMID:19864899|PMID:20031602|PMID:20031619|PMID:20428263|PMID:20474083|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20733148|PMID:20800588|PMID:20965760|PMID:21211974|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21482996|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21750094|PMID:21839045|PMID:21943931|PMID:22155079|PMID:22260945|PMID:22337857|PMID:22464770|PMID:22763267|PMID:22918376|PMID:22949430|PMID:22958901|PMID:23054336|PMID:23153285|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23299917|PMID:23313350|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23707328|PMID:23798412|PMID:23861362|PMID:24033266|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24344137|PMID:24503780|PMID:24664454|PMID:24691700|PMID:24721642|PMID:24758099|PMID:24829265|PMID:25031304|PMID:25125180|PMID:25163446|PMID:25163546|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25576864|PMID:25607779|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25741868|PMID:25937279|PMID:25961035|PMID:26025024|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26467025|PMID:26497160|PMID:26688388|PMID:26743238|PMID:27153395|PMID:27247418|PMID:27373729|PMID:2753225|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:28045975|PMID:28193612|PMID:28265379|PMID:28416588|PMID:28492532|PMID:28588093|PMID:28750076|PMID:28771251|PMID:28790153|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28971120|PMID:29029073|PMID:29093449|PMID:29212898|PMID:29253866|PMID:29300372|PMID:29447731|PMID:29666183|PMID:29709087|PMID:29773157|PMID:29867217|PMID:29892087|PMID:29907873|PMID:29915098|PMID:30095857|PMID:30122538|PMID:30188508|PMID:30298955|PMID:30371277|PMID:30775854|PMID:30847666|PMID:31006259|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31638223|PMID:31737537|PMID:31783775|PMID:31931689|PMID:31983221|PMID:32013205|PMID:3203908|PMID:32228044|PMID:32283115|PMID:32458740|PMID:32528171|PMID:32659924|PMID:32789579|PMID:33673806|PMID:34008892|PMID:34213952|PMID:34460321|PMID:34935411|PMID:7731997|PMID:7883988|PMID:7909436|PMID:8250038|PMID:8335820|PMID:8614836|PMID:8655135|PMID:8981935|PMID:9536098|PMID:9541100|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:12930 dilated cardiomyopathy ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10662815|PMID:10900182|PMID:11106718|PMID:11133230|PMID:12084606|PMID:12379228|PMID:12707239|PMID:12881443|PMID:12951062|PMID:12974739|PMID:12975413|PMID:15001446|PMID:15322983|PMID:15358028|PMID:1552912|PMID:15556047|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16715312|PMID:16754800|PMID:16983074|PMID:17192269|PMID:17351073|PMID:17372140|PMID:1739523|PMID:17495353|PMID:17576681|PMID:17599605|PMID:17947214|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18555187|PMID:18660445|PMID:19293840|PMID:19412328|PMID:19477645|PMID:1975599|PMID:19808347|PMID:19854198|PMID:19864899|PMID:20031602|PMID:20031619|PMID:20428263|PMID:20474083|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20733148|PMID:20800588|PMID:20965760|PMID:21211974|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21482996|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21750094|PMID:21839045|PMID:21943931|PMID:22155079|PMID:22260945|PMID:22337857|PMID:22464770|PMID:22763267|PMID:22918376|PMID:22949430|PMID:22958901|PMID:23054336|PMID:23153285|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23299917|PMID:23313350|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23707328|PMID:23798412|PMID:23861362|PMID:24033266|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24344137|PMID:24503780|PMID:24664454|PMID:24691700|PMID:24721642|PMID:24758099|PMID:24829265|PMID:25031304|PMID:25125180|PMID:25163446|PMID:25163546|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25576864|PMID:25607779|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25741868|PMID:25937279|PMID:25961035|PMID:26025024|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26467025|PMID:26497160|PMID:26688388|PMID:26743238|PMID:27153395|PMID:27247418|PMID:27373729|PMID:2753225|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:28045975|PMID:28193612|PMID:28265379|PMID:28416588|PMID:28492532|PMID:28498465|PMID:28588093|PMID:28750076|PMID:28771251|PMID:28790153|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28971120|PMID:29029073|PMID:29093449|PMID:29212898|PMID:29253866|PMID:29300372|PMID:29447731|PMID:29666183|PMID:29709087|PMID:29773157|PMID:29867217|PMID:29892087|PMID:29907873|PMID:29915098|PMID:30095857|PMID:30122538|PMID:30188508|PMID:30298955|PMID:30371277|PMID:30775854|PMID:30794915|PMID:30847666|PMID:30996762|PMID:31006259|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31638223|PMID:31737537|PMID:31783775|PMID:31931689|PMID:31983221|PMID:32013205|PMID:3203908|PMID:32228044|PMID:32283115|PMID:32458740|PMID:32528171|PMID:32659924|PMID:32789579|PMID:32880476|PMID:33673806|PMID:34008892|PMID:34213952|PMID:34460321|PMID:34935411|PMID:7731997|PMID:7883988|PMID:7909436|PMID:8250038|PMID:8335820|PMID:8614836|PMID:8655135|PMID:8981935|PMID:9536098|PMID:9541100|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:12930 dilated cardiomyopathy ISO RGD:736718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10662815|PMID:10900182|PMID:11106718|PMID:11133230|PMID:12084606|PMID:12379228|PMID:12707239|PMID:12881443|PMID:12951062|PMID:12974739|PMID:12975413|PMID:15001446|PMID:15322983|PMID:15358028|PMID:1552912|PMID:15556047|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16715312|PMID:16754800|PMID:16983074|PMID:17192269|PMID:17351073|PMID:17372140|PMID:1739523|PMID:17495353|PMID:17576681|PMID:17599605|PMID:17947214|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18555187|PMID:18660445|PMID:19293840|PMID:19412328|PMID:19477645|PMID:1975599|PMID:19808347|PMID:19854198|PMID:19864899|PMID:20031602|PMID:20031619|PMID:20428263|PMID:20474083|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20733148|PMID:20800588|PMID:20965760|PMID:21211974|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21482996|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21750094|PMID:21839045|PMID:21943931|PMID:22155079|PMID:22260945|PMID:22337857|PMID:22464770|PMID:22763267|PMID:22918376|PMID:22949430|PMID:22958901|PMID:23054336|PMID:23153285|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23299917|PMID:23313350|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23707328|PMID:23798412|PMID:23861362|PMID:24033266|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24344137|PMID:24503780|PMID:24664454|PMID:24691700|PMID:24721642|PMID:24758099|PMID:24829265|PMID:25031304|PMID:25125180|PMID:25163446|PMID:25163546|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25576864|PMID:25607779|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25741868|PMID:25937279|PMID:25961035|PMID:26025024|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26467025|PMID:26497160|PMID:26688388|PMID:26743238|PMID:27153395|PMID:27247418|PMID:27373729|PMID:2753225|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:28045975|PMID:28193612|PMID:28265379|PMID:28416588|PMID:28492532|PMID:28498465|PMID:28588093|PMID:28750076|PMID:28771251|PMID:28790153|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28971120|PMID:29029073|PMID:29093449|PMID:29212898|PMID:29253866|PMID:29300372|PMID:29447731|PMID:29666183|PMID:29709087|PMID:29773157|PMID:29867217|PMID:29892087|PMID:29907873|PMID:29915098|PMID:30095857|PMID:30122538|PMID:30188508|PMID:30298955|PMID:30371277|PMID:30775854|PMID:30794915|PMID:30847666|PMID:30996762|PMID:31006259|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31638223|PMID:31737537|PMID:31783775|PMID:31931689|PMID:31983221|PMID:32013205|PMID:3203908|PMID:32228044|PMID:32283115|PMID:32458740|PMID:32528171|PMID:32659924|PMID:32789579|PMID:32880476|PMID:33673806|PMID:34008892|PMID:34213952|PMID:34460321|PMID:34935411|PMID:7731997|PMID:7883988|PMID:7909436|PMID:8250038|PMID:8335820|PMID:8614836|PMID:8655135|PMID:8981935|PMID:9536098|PMID:9541100|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:12930 dilated cardiomyopathy ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10662815|PMID:10900182|PMID:11106718|PMID:11133230|PMID:12084606|PMID:12379228|PMID:12707239|PMID:12881443|PMID:12951062|PMID:12974739|PMID:12975413|PMID:15001446|PMID:15322983|PMID:15358028|PMID:1552912|PMID:15556047|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16715312|PMID:16754800|PMID:16983074|PMID:17192269|PMID:17351073|PMID:17372140|PMID:1739523|PMID:17495353|PMID:17576681|PMID:17599605|PMID:17947214|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18555187|PMID:18660445|PMID:19293840|PMID:19412328|PMID:19477645|PMID:1975599|PMID:19808347|PMID:19854198|PMID:19864899|PMID:20031602|PMID:20031619|PMID:20428263|PMID:20474083|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20733148|PMID:20800588|PMID:20965760|PMID:21211974|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21482996|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21750094|PMID:21839045|PMID:21943931|PMID:22155079|PMID:22260945|PMID:22337857|PMID:22464770|PMID:22763267|PMID:22918376|PMID:22949430|PMID:22958901|PMID:23054336|PMID:23153285|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23299917|PMID:23313350|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23707328|PMID:23798412|PMID:23861362|PMID:24033266|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24344137|PMID:24503780|PMID:24664454|PMID:24691700|PMID:24721642|PMID:24758099|PMID:24829265|PMID:25031304|PMID:25125180|PMID:25163446|PMID:25163546|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25576864|PMID:25607779|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25741868|PMID:25937279|PMID:25961035|PMID:26025024|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26467025|PMID:26497160|PMID:26688388|PMID:26743238|PMID:27153395|PMID:27247418|PMID:27373729|PMID:2753225|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:28045975|PMID:28193612|PMID:28265379|PMID:28416588|PMID:28492532|PMID:28498465|PMID:28588093|PMID:28750076|PMID:28771251|PMID:28790153|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28971120|PMID:29029073|PMID:29093449|PMID:29212898|PMID:29253866|PMID:29300372|PMID:29447731|PMID:29666183|PMID:29709087|PMID:29773157|PMID:29867217|PMID:29892087|PMID:29907873|PMID:29915098|PMID:30095857|PMID:30122538|PMID:30188508|PMID:30298955|PMID:30371277|PMID:30775854|PMID:30794915|PMID:30847666|PMID:30996762|PMID:31006259|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31638223|PMID:31737537|PMID:31783775|PMID:31931689|PMID:31983221|PMID:32013205|PMID:3203908|PMID:32228044|PMID:32283115|PMID:32458740|PMID:32528171|PMID:32659924|PMID:32789579|PMID:32880476|PMID:33673806|PMID:34008892|PMID:34213952|PMID:34460321|PMID:34935411|PMID:35288587|PMID:7731997|PMID:7883988|PMID:7909436|PMID:8250038|PMID:8335820|PMID:8614836|PMID:8655135|PMID:8981935|PMID:9536098|PMID:9541100|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:12930 dilated cardiomyopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10662815|PMID:10900182|PMID:11106718|PMID:11133230|PMID:12084606|PMID:12379228|PMID:12707239|PMID:12881443|PMID:12951062|PMID:12974739|PMID:12975413|PMID:15001446|PMID:15322983|PMID:15358028|PMID:1552912|PMID:15556047|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16715312|PMID:16754800|PMID:16983074|PMID:17192269|PMID:17351073|PMID:17372140|PMID:1739523|PMID:17495353|PMID:17576681|PMID:17599605|PMID:17947214|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18555187|PMID:18660445|PMID:19293840|PMID:19412328|PMID:19477645|PMID:1975599|PMID:19808347|PMID:19854198|PMID:19864899|PMID:20031602|PMID:20031619|PMID:20428263|PMID:20474083|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20733148|PMID:20800588|PMID:20965760|PMID:21211974|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21482996|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21750094|PMID:21839045|PMID:21943931|PMID:22155079|PMID:22260945|PMID:22337857|PMID:22464770|PMID:22763267|PMID:22918376|PMID:22949430|PMID:22958901|PMID:23054336|PMID:23153285|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23299917|PMID:23313350|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23707328|PMID:23798412|PMID:23861362|PMID:24033266|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24344137|PMID:24503780|PMID:24664454|PMID:24691700|PMID:24721642|PMID:24758099|PMID:24829265|PMID:25031304|PMID:25125180|PMID:25163446|PMID:25163546|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25576864|PMID:25607779|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25741868|PMID:25937279|PMID:25961035|PMID:26025024|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26467025|PMID:26497160|PMID:26688388|PMID:26743238|PMID:27153395|PMID:27247418|PMID:27373729|PMID:2753225|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:28045975|PMID:28193612|PMID:28265379|PMID:28416588|PMID:28492532|PMID:28498465|PMID:28588093|PMID:28750076|PMID:28771251|PMID:28790153|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28971120|PMID:29029073|PMID:29093449|PMID:29212898|PMID:29253866|PMID:29300372|PMID:29447731|PMID:29666183|PMID:29709087|PMID:29773157|PMID:29867217|PMID:29892087|PMID:29907873|PMID:29915098|PMID:30095857|PMID:30122538|PMID:30188508|PMID:30298955|PMID:30371277|PMID:30775854|PMID:30794915|PMID:30847666|PMID:30996762|PMID:31006259|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31638223|PMID:31737537|PMID:31783775|PMID:31931689|PMID:31983221|PMID:32013205|PMID:3203908|PMID:32228044|PMID:32283115|PMID:32458740|PMID:32528171|PMID:32659924|PMID:32789579|PMID:32880476|PMID:33500567|PMID:33673806|PMID:34008892|PMID:34213952|PMID:34460321|PMID:34542152|PMID:34935411|PMID:35288587|PMID:7731997|PMID:7883988|PMID:7909436|PMID:8250038|PMID:8335820|PMID:8614836|PMID:8655135|PMID:8981935|PMID:9536098|PMID:9541100|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:12930 dilated cardiomyopathy onset ISO RGD:736718 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:p.S532P, p.F764L (human) PMID:11106718|REF_RGD_ID:1556469 11977332 LOC100978529 myosin-7 gene DOID:14289 Ebstein anomaly ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ebstein anomaly PMID:21127202|PMID:23956225|PMID:24033266|PMID:27153395|PMID:28492532|PMID:29300372 11977332 LOC100978529 myosin-7 gene DOID:1459 hypothyroidism ISO RGD:62030 D RGD:9068941 20200609 RGD PMID:1703406|PMID:2950137|REF_RGD_ID:12792943|REF_RGD_ID:12798563 11977332 LOC100978529 myosin-7 gene DOID:14791 Leber congenital amaurosis ISO RGD:736718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:10862102|PMID:12975413|PMID:19149795|PMID:20075948|PMID:20298698|PMID:20975235|PMID:22112859|PMID:23299917|PMID:24033266|PMID:24621997|PMID:25132132|PMID:25637381|PMID:25741868|PMID:27247418|PMID:27532257|PMID:28492532|PMID:28771489|PMID:29300372|PMID:29907873|PMID:30022097|PMID:30206291|PMID:30217213|PMID:32165824|PMID:32492895 11977332 LOC100978529 myosin-7 gene DOID:1682 congenital heart disease ISO RGD:736718 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.R281T (c.842G>C) (human) PMID:18159245|REF_RGD_ID:11098258 11977332 LOC100978529 myosin-7 gene DOID:1882 atrial heart septal defect ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect 11977332 LOC100978529 myosin-7 gene DOID:2340 craniosynostosis ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lambdoid synostosis PMID:25741868|PMID:28492532|PMID:29892087|PMID:31737537 11977332 LOC100978529 myosin-7 gene DOID:2843 long QT syndrome ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prolonged QT interval PMID:25741868|PMID:27532257|PMID:28492532 11977332 LOC100978529 myosin-7 gene DOID:2843 long QT syndrome ISO RGD:736718 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 11977332 LOC100978529 myosin-7 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:10521296|PMID:11186938|PMID:11447480|PMID:12749056|PMID:15358028|PMID:15757018|PMID:16267253|PMID:16858239|PMID:17125710|PMID:18029407|PMID:18409188|PMID:18506004|PMID:19150014|PMID:19880069|PMID:20031618|PMID:20624503|PMID:20965760|PMID:21127202|PMID:21239446|PMID:21310275|PMID:21551322|PMID:21799269|PMID:22765922|PMID:22857948|PMID:22958901|PMID:22975586|PMID:23074333|PMID:23140321|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23794396|PMID:24033266|PMID:24038877|PMID:24093860|PMID:24111713|PMID:24714796|PMID:24793961|PMID:25031304|PMID:25214167|PMID:25342278|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26497160|PMID:26743238|PMID:26969327|PMID:27066506|PMID:27247418|PMID:27387980|PMID:27532257|PMID:27737317|PMID:27788187|PMID:27831900|PMID:28138913|PMID:28356264|PMID:28420666|PMID:28492532|PMID:28606303|PMID:28615295|PMID:28790153|PMID:28912206|PMID:29121657|PMID:29300372|PMID:29447731|PMID:30291343|PMID:30755392|PMID:30871747|PMID:31006259|PMID:31110529|PMID:31447099|PMID:31589614|PMID:32233023|PMID:33297573|PMID:33673806|PMID:7581410 11977332 LOC100978529 myosin-7 gene DOID:397 restrictive cardiomyopathy ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:11861413|PMID:12707239|PMID:15358028|PMID:15483641|PMID:15769782|PMID:17125710|PMID:17336526|PMID:18076673|PMID:18380764|PMID:18409188|PMID:19150014|PMID:20394946|PMID:20800588|PMID:20818890|PMID:20981092|PMID:21302287|PMID:21310275|PMID:21425739|PMID:22260945|PMID:22763267|PMID:22765922|PMID:22958901|PMID:23299917|PMID:23396983|PMID:23549607|PMID:23690394|PMID:23861362|PMID:23870641|PMID:24033266|PMID:25125180|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25741868|PMID:25935763|PMID:26084686|PMID:26467025|PMID:26654849|PMID:26846766|PMID:26914223|PMID:27224906|PMID:27247418|PMID:27532257|PMID:27600940|PMID:27884173|PMID:27965028|PMID:28067235|PMID:28356264|PMID:28492532|PMID:28606303|PMID:28855170|PMID:29178653|PMID:29300372|PMID:29631964|PMID:30105547|PMID:30745532|PMID:32013205|PMID:33495597|PMID:34542152 11977332 LOC100978529 myosin-7 gene DOID:422 congenital structural myopathy ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:10024460|PMID:10065021|PMID:10328076|PMID:10521296|PMID:10725281|PMID:10750581|PMID:10882745|PMID:11133230|PMID:11186938|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11968089|PMID:12081993|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12975413|PMID:1430197|PMID:15010274|PMID:15136674|PMID:15358028|PMID:15483641|PMID:15528230|PMID:1552912|PMID:15563892|PMID:15757018|PMID:15856146|PMID:15858117|PMID:16199542|PMID:16267253|PMID:1638703|PMID:16630449|PMID:16858239|PMID:16918501|PMID:17125710|PMID:17438619|PMID:17560888|PMID:17612745|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:18761664|PMID:19150014|PMID:1944483|PMID:19666645|PMID:1975517|PMID:19880069|PMID:20031618|PMID:20350521|PMID:20800588|PMID:21127202|PMID:21239446|PMID:21310275|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22429680|PMID:22455086|PMID:22765922|PMID:22857948|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23197161|PMID:23233322|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23396983|PMID:23403236|PMID:23549607|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24093860|PMID:24111713|PMID:24183960|PMID:24298987|PMID:24503780|PMID:24510615|PMID:24691700|PMID:24704860|PMID:24793961|PMID:25031304|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25741868|PMID:25937619|PMID:26573135|PMID:26743238|PMID:26914223|PMID:26936621|PMID:26969327|PMID:27082122|PMID:27153395|PMID:27247418|PMID:27532257|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27974200|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28241245|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28518168|PMID:28606303|PMID:28615295|PMID:28790153|PMID:29121657|PMID:29212898|PMID:29300372|PMID:29907873|PMID:30217213|PMID:30291343|PMID:30297972|PMID:30511546|PMID:30731207|PMID:30755392|PMID:30847666|PMID:30871747|PMID:30924982|PMID:31006259|PMID:31110529|PMID:31199839|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31931472|PMID:32233023|PMID:32284968|PMID:32381727|PMID:33297573|PMID:33673806|PMID:34540771|PMID:7581410|PMID:7662452|PMID:7731997|PMID:7848420|PMID:8186698|PMID:8254035|PMID:8268932|PMID:9105042|PMID:9140839|PMID:9826622|PMID:9835779 11977332 LOC100978529 myosin-7 gene DOID:422 congenital structural myopathy ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:15000344|PMID:15010274|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17125710|PMID:17180650|PMID:17351073|PMID:17372140|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18565996|PMID:18660445|PMID:18761664|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19412328|PMID:1944483|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163546|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25467552|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27082122|PMID:27153395|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27387980|PMID:27483260|PMID:27532257|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27974200|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28606303 11977332 LOC100978529 myosin-7 gene DOID:422 congenital structural myopathy ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:28615295|PMID:28640247|PMID:28687478|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29447731|PMID:29517769|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:30022097|PMID:30122538|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32381727|PMID:32492895|PMID:32531501|PMID:32612965|PMID:32659924|PMID:32880476|PMID:32894683|PMID:33232181|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34426522|PMID:34540771|PMID:34542152|PMID:35535697|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:422 congenital structural myopathy ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:28615295|PMID:28640247|PMID:28687478|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28912206|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29447731|PMID:29517769|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:30022097|PMID:30122538|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32381727|PMID:32492895|PMID:32531501|PMID:32612965|PMID:32659924|PMID:32880476|PMID:32894683|PMID:32931854|PMID:33232181|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34949102|PMID:35535697|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:422 congenital structural myopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:28615295|PMID:28640247|PMID:28687478|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28912206|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29447731|PMID:29517769|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:30022097|PMID:30122538|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32381727|PMID:32492895|PMID:32531501|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32880476|PMID:32894683|PMID:32931854|PMID:33232181|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34426522|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34949102|PMID:35535697|PMID:35653365|PMID:36129056|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:423 myopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myopathy PMID:15358028|PMID:16938236|PMID:19149795|PMID:20975235|PMID:22958901|PMID:24033266|PMID:24093860|PMID:24111713|PMID:24793961|PMID:25086479|PMID:25611685|PMID:25741868|PMID:25937619|PMID:26187847|PMID:27247418|PMID:27532257|PMID:28492532|PMID:28498465|PMID:31513939|PMID:31589614|PMID:32894683|PMID:34542152 11977332 LOC100978529 myosin-7 gene DOID:4248 coronary stenosis ISO RGD:736718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12721106 11977332 LOC100978529 myosin-7 gene DOID:440 neuromuscular disease ISO RGD:736718 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Neuromuscular disorder PMID:19477645|PMID:22918376|PMID:24033266|PMID:24503780|PMID:24664454|PMID:25576864|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28855170|PMID:29300372 11977332 LOC100978529 myosin-7 gene DOID:5810 adenosine deaminase deficiency ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bubble boy disease PMID:10521296|PMID:11186938|PMID:11447480|PMID:15358028|PMID:16858239|PMID:17125710|PMID:18029407|PMID:19880069|PMID:20031618|PMID:21310275|PMID:22857948|PMID:22975586|PMID:23233322|PMID:23283745|PMID:23299917|PMID:24033266|PMID:24038877|PMID:24093860|PMID:24111713|PMID:24793961|PMID:25031304|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26743238|PMID:26969327|PMID:27247418|PMID:27532257|PMID:27737317|PMID:27831900|PMID:28138913|PMID:28420666|PMID:28492532|PMID:28606303|PMID:28615295|PMID:28790153|PMID:30291343|PMID:30755392|PMID:31006259|PMID:31110529|PMID:31447099|PMID:31589614|PMID:32233023|PMID:33297573|PMID:33673806|PMID:7581410 11977332 LOC100978529 myosin-7 gene DOID:5844 myocardial infarction ISO RGD:62030 D RGD:9068941 20200609 RGD PMID:15090263|REF_RGD_ID:11565830 11977332 LOC100978529 myosin-7 gene DOID:5844 myocardial infarction ISO RGD:736718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11743230 11977332 LOC100978529 myosin-7 gene DOID:6000 congestive heart failure treatment ISO RGD:62030 D RGD:9068941 20200609 RGD associated with Myocardial Infarction PMID:18088389|REF_RGD_ID:12792974 11977332 LOC100978529 myosin-7 gene DOID:614 lymphopenia ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lymphopenia PMID:10521296|PMID:11186938|PMID:11447480|PMID:15358028|PMID:16858239|PMID:17125710|PMID:18029407|PMID:19880069|PMID:20031618|PMID:21310275|PMID:22857948|PMID:22975586|PMID:23233322|PMID:23283745|PMID:23299917|PMID:24033266|PMID:24038877|PMID:24093860|PMID:24111713|PMID:24793961|PMID:25031304|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26743238|PMID:26969327|PMID:27247418|PMID:27532257|PMID:27737317|PMID:27831900|PMID:28138913|PMID:28420666|PMID:28492532|PMID:28606303|PMID:28615295|PMID:28790153|PMID:30291343|PMID:30755392|PMID:31006259|PMID:31110529|PMID:31447099|PMID:31589614|PMID:32233023|PMID:33297573|PMID:33673806|PMID:7581410 11977332 LOC100978529 myosin-7 gene DOID:627 severe combined immunodeficiency ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:10521296|PMID:11186938|PMID:11447480|PMID:15358028|PMID:16858239|PMID:17125710|PMID:18029407|PMID:19880069|PMID:20031618|PMID:21310275|PMID:22857948|PMID:22975586|PMID:23233322|PMID:23283745|PMID:23299917|PMID:24033266|PMID:24038877|PMID:24093860|PMID:24111713|PMID:24793961|PMID:25031304|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26743238|PMID:26969327|PMID:27247418|PMID:27532257|PMID:27737317|PMID:27831900|PMID:28138913|PMID:28420666|PMID:28492532|PMID:28606303|PMID:28615295|PMID:28790153|PMID:30291343|PMID:30755392|PMID:31006259|PMID:31110529|PMID:31447099|PMID:31589614|PMID:32233023|PMID:33297573|PMID:33673806|PMID:7581410 11977332 LOC100978529 myosin-7 gene DOID:628 combined T cell and B cell immunodeficiency ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined T and B cell immunodeficiency PMID:10521296|PMID:11186938|PMID:11447480|PMID:15358028|PMID:16858239|PMID:17125710|PMID:18029407|PMID:19880069|PMID:20031618|PMID:21310275|PMID:22857948|PMID:22975586|PMID:23233322|PMID:23283745|PMID:23299917|PMID:24033266|PMID:24038877|PMID:24093860|PMID:24111713|PMID:24793961|PMID:25031304|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26743238|PMID:26969327|PMID:27247418|PMID:27532257|PMID:27737317|PMID:27831900|PMID:28138913|PMID:28420666|PMID:28492532|PMID:28606303|PMID:28615295|PMID:28790153|PMID:30291343|PMID:30755392|PMID:31006259|PMID:31110529|PMID:31447099|PMID:31589614|PMID:32233023|PMID:33297573|PMID:33673806|PMID:7581410 11977332 LOC100978529 myosin-7 gene DOID:630 genetic disease ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10900182|PMID:11433818|PMID:12820698|PMID:12974739|PMID:14656445|PMID:15322983|PMID:15358028|PMID:15563892|PMID:16754800|PMID:17372140|PMID:17502101|PMID:17947214|PMID:18383048|PMID:19808347|PMID:19864899|PMID:20031602|PMID:20624503|PMID:20733148|PMID:20800588|PMID:21252143|PMID:2136805|PMID:21499742|PMID:21511876|PMID:21839045|PMID:22455086|PMID:22763267|PMID:22765922|PMID:22918376|PMID:22958901|PMID:23281406|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23426552|PMID:23707328|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:25086479|PMID:25125180|PMID:25163546|PMID:25351510|PMID:25524337|PMID:25666907|PMID:25741868|PMID:26246073|PMID:26332594|PMID:26743238|PMID:26914223|PMID:27532257|PMID:28193612|PMID:28265379|PMID:28408708|PMID:28416588|PMID:28492532|PMID:28615295|PMID:28771489|PMID:28807990|PMID:28971120|PMID:29300372|PMID:29915098|PMID:30588760|PMID:30775854|PMID:31006259|PMID:3203908|PMID:32344918|PMID:32894683|PMID:33309763|PMID:33495597|PMID:33673806|PMID:34542152|PMID:34598319|PMID:35653365|PMID:7883988|PMID:7909436|PMID:8533830|PMID:8614836|PMID:8981935|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:24793961|PMID:25741868|PMID:27532257|PMID:28492532 11977332 LOC100978529 myosin-7 gene DOID:9000184 Ventricular Fibrillation ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:15483641|PMID:20624503|PMID:21310275|PMID:22958901|PMID:23054336|PMID:23197161|PMID:23299917|PMID:23403236|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24047955|PMID:24510615|PMID:25637381|PMID:25741868|PMID:26573135|PMID:27153395|PMID:27247418|PMID:27574918|PMID:28492532|PMID:29300372 11977332 LOC100978529 myosin-7 gene DOID:9000265 Specific Granule Deficiency ISO RGD:736718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 11977332 LOC100978529 myosin-7 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:10024460|PMID:12379228|PMID:12707239|PMID:12749056|PMID:12818575|PMID:12974739|PMID:1430197|PMID:15358028|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15769782|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199547|PMID:16253604|PMID:16630449|PMID:17125710|PMID:17476457|PMID:17576681|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19412328|PMID:19477645|PMID:19645038|PMID:19864899|PMID:20086309|PMID:20359594|PMID:20474083|PMID:20664766|PMID:20975235|PMID:21127202|PMID:21551322|PMID:21750094|PMID:21959974|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22763267|PMID:22859017|PMID:22918376|PMID:22958901|PMID:23233322|PMID:23299917|PMID:23403236|PMID:23508784|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24664454|PMID:24721642|PMID:24758099|PMID:24793961|PMID:25086479|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25576864|PMID:25607779|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26743238|PMID:27082122|PMID:27247418|PMID:27532257|PMID:27600940|PMID:27707468|PMID:27788187|PMID:27930701|PMID:28255936|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28606303|PMID:28704380|PMID:28706299|PMID:28750076|PMID:28790153|PMID:28807990|PMID:28855170|PMID:28878402|PMID:29300372|PMID:30165862|PMID:30471092|PMID:30847666|PMID:31028938|PMID:31333075|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32528171|PMID:32880476|PMID:32894683|PMID:33495597|PMID:33500567|PMID:34008892|PMID:34426522|PMID:34540771|PMID:34542152|PMID:35653365|PMID:7731997|PMID:8533830|PMID:9536098 11977332 LOC100978529 myosin-7 gene DOID:9000590 Dyspnea ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dyspnea PMID:18258667|PMID:24033266|PMID:24111713|PMID:25741868|PMID:26914223|PMID:27930701|PMID:28492532|PMID:28771489|PMID:31737537 11977332 LOC100978529 myosin-7 gene DOID:9000655 Hereditary Motor Neuropathy with Myopathic Features ISO RGD:736718 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Neuromyopathy PMID:19477645|PMID:22918376|PMID:24033266|PMID:24503780|PMID:24664454|PMID:25576864|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28855170|PMID:29300372 11977332 LOC100978529 myosin-7 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:16199547|PMID:25741868|PMID:28492532|PMID:29343803 11977332 LOC100978529 myosin-7 gene DOID:9003163 Heart Block ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:16199547|PMID:25741868|PMID:28492532|PMID:29343803 11977332 LOC100978529 myosin-7 gene DOID:9003936 Cardiomegaly ISO RGD:62030 D RGD:9068941 20200609 RGD PMID:1703406|REF_RGD_ID:12798563 11977332 LOC100978529 myosin-7 gene DOID:9003936 Cardiomegaly ISO RGD:62322 D RGD:9068941 20221027 RGD mRNA, protein:increased expression:heart (mouse) PMID:26597775|REF_RGD_ID:11554891 11977332 LOC100978529 myosin-7 gene DOID:9004470 Craniosynostosis 4 ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniosynostosis 4 PMID:25741868|PMID:28492532|PMID:29892087|PMID:31737537 11977332 LOC100978529 myosin-7 gene DOID:9004493 Camptocormia ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Bent Spine Syndrome PMID:12707239|PMID:23861362|PMID:24033266|PMID:24793961|PMID:25467552|PMID:25741868|PMID:25961035|PMID:26627873|PMID:26969127|PMID:27247418|PMID:27532257|PMID:28492532|PMID:29300372|PMID:31918855|PMID:32894683|PMID:33673806|PMID:34542152 11977332 LOC100978529 myosin-7 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Increased left ventricular wall thickness | ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:10900182|PMID:15322983|PMID:16754800|PMID:17372140|PMID:17947214|PMID:19808347|PMID:19864899|PMID:20031602|PMID:20624503|PMID:20733148|PMID:20800588|PMID:2136805|PMID:21499742|PMID:21511876|PMID:22763267|PMID:22918376|PMID:22958901|PMID:23281406|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23426552|PMID:23707328|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24119082|PMID:24503780|PMID:25125180|PMID:25163546|PMID:25351510|PMID:25524337|PMID:25666907|PMID:25741868|PMID:26332594|PMID:26743238|PMID:28193612|PMID:28265379|PMID:28416588|PMID:28492532|PMID:28807990|PMID:28971120|PMID:29300372|PMID:29915098|PMID:30775854|PMID:31006259|PMID:3203908|PMID:7883988|PMID:7909436|PMID:8614836|PMID:8981935|PMID:9884344 11977332 LOC100978529 myosin-7 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11977332 LOC100978529 myosin-7 gene DOID:9005141 Ventricular Tachycardia ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28492532 11977332 LOC100978529 myosin-7 gene DOID:9005930 Endotoxemia ISO RGD:62030 D RGD:9068941 20200609 RGD PMID:7874842|REF_RGD_ID:12792976 11977332 LOC100978529 myosin-7 gene DOID:9007820 Sudden Death ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:15358028|PMID:15856146|PMID:16335287|PMID:19808356|PMID:19913502|PMID:20800588|PMID:22857948|PMID:23074333|PMID:23283745|PMID:23396983|PMID:23782526|PMID:23861362|PMID:24047955|PMID:25351510|PMID:25741868|PMID:26688388|PMID:27247418|PMID:27532257|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28687478|PMID:29300372|PMID:30165862|PMID:31199839 11977332 LOC100978529 myosin-7 gene DOID:9007925 Sudden Cardiac Death ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:25741868 11977332 LOC100978529 myosin-7 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:736718 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:18414213|PMID:20474083|PMID:23233322|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29300372 11977332 LOC100978529 myosin-7 gene DOID:9775 diastolic heart failure ISO RGD:736718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 11977332 LOC100978529 myosin-7 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:737147 D RGD:9068941 20200609 RGD PMID:27789736|REF_RGD_ID:12798513 11977376 ETFA electron transfer flavoprotein subunit alpha gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1342675 D RGD:7240710 20180130 OMIM 11977376 ETFA electron transfer flavoprotein subunit alpha gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1342675 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ETFA deficiency | ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:12486872|PMID:12815589|PMID:1430199|PMID:16199547|PMID:16510302|PMID:16546179|PMID:17576681|PMID:18289905|PMID:1882842|PMID:20674745|PMID:20736750|PMID:23785301|PMID:23867278|PMID:25741868|PMID:26409463|PMID:28492532|PMID:29096039|PMID:30510944|PMID:31268564|PMID:33450351|PMID:33768790|PMID:9334218|PMID:9536098 11977376 ETFA electron transfer flavoprotein subunit alpha gene DOID:2717 Bloom syndrome ISO RGD:1342675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11977376 ETFA electron transfer flavoprotein subunit alpha gene DOID:5419 schizophrenia ISO RGD:1342675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11977376 ETFA electron transfer flavoprotein subunit alpha gene DOID:630 genetic disease ISO RGD:1342675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16510302|PMID:23785301|PMID:28492532 11977376 ETFA electron transfer flavoprotein subunit alpha gene DOID:684 hepatocellular carcinoma ISO RGD:1342675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11977376 ETFA electron transfer flavoprotein subunit alpha gene DOID:8398 osteoarthritis ISO RGD:1342675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11977376 ETFA electron transfer flavoprotein subunit alpha gene DOID:9001253 Glutaric Aciduria 2 ISO RGD:1342675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glutaric acidemia type 2A PMID:16510302|PMID:17576681|PMID:18289905|PMID:23785301|PMID:25741868|PMID:28492532|PMID:29096039|PMID:31268564|PMID:9536098 11977376 ETFA electron transfer flavoprotein subunit alpha gene DOID:9256 colorectal cancer ISO RGD:1342675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11977395 OVGP1 oviductal glycoprotein 1 gene DOID:10316 pneumoconiosis ISO RGD:1349339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 11977395 OVGP1 oviductal glycoprotein 1 gene DOID:630 genetic disease ISO RGD:1349339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977415 NSUN5 NOP2/Sun RNA methyltransferase 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1319518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 11977415 NSUN5 NOP2/Sun RNA methyltransferase 5 gene DOID:10923 sickle cell anemia ISO RGD:1319518 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 11977415 NSUN5 NOP2/Sun RNA methyltransferase 5 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1319518 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 11977415 NSUN5 NOP2/Sun RNA methyltransferase 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11977415 NSUN5 NOP2/Sun RNA methyltransferase 5 gene DOID:630 genetic disease ISO RGD:1319518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977415 NSUN5 NOP2/Sun RNA methyltransferase 5 gene DOID:8445 intestinal volvulus ISO RGD:1319518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11977415 NSUN5 NOP2/Sun RNA methyltransferase 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11977415 NSUN5 NOP2/Sun RNA methyltransferase 5 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1319518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11977430 ZNF428 zinc finger protein 428 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1603271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 11977430 ZNF428 zinc finger protein 428 gene DOID:5419 schizophrenia ISO RGD:1603271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11977430 ZNF428 zinc finger protein 428 gene DOID:630 genetic disease ISO RGD:1603271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977438 PLLP plasmolipin gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736785 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11977438 PLLP plasmolipin gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736785 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11977438 PLLP plasmolipin gene DOID:1790 malignant mesothelioma ISO RGD:736785 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 11977438 PLLP plasmolipin gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11977438 PLLP plasmolipin gene DOID:5419 schizophrenia ISO RGD:736785 D RGD:9068941 20200609 RGD PMID:15334603|REF_RGD_ID:1358792 11977438 PLLP plasmolipin gene DOID:630 genetic disease ISO RGD:736785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977446 PROX2 prospero homeobox 2 gene DOID:1059 intellectual disability ISO RGD:1606668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11977446 PROX2 prospero homeobox 2 gene DOID:630 genetic disease ISO RGD:1606668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977458 DNAJC18 DnaJ heat shock protein family (Hsp40) member C18 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1602641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11977458 DNAJC18 DnaJ heat shock protein family (Hsp40) member C18 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602641 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11977458 DNAJC18 DnaJ heat shock protein family (Hsp40) member C18 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1602641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 11977458 DNAJC18 DnaJ heat shock protein family (Hsp40) member C18 gene DOID:630 genetic disease ISO RGD:1602641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977458 DNAJC18 DnaJ heat shock protein family (Hsp40) member C18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11977458 DNAJC18 DnaJ heat shock protein family (Hsp40) member C18 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602641 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11977476 TSPYL6 TSPY like 6 gene DOID:630 genetic disease ISO RGD:1603148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977487 KAT8 lysine acetyltransferase 8 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1323009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11977487 KAT8 lysine acetyltransferase 8 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1323009 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27768893 11977487 KAT8 lysine acetyltransferase 8 gene DOID:1612 breast cancer severity ISO RGD:1323009 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:22199269|REF_RGD_ID:9586031 11977487 KAT8 lysine acetyltransferase 8 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1323009 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney (human) PMID:23394073|REF_RGD_ID:9586034 11977487 KAT8 lysine acetyltransferase 8 gene DOID:6000 congestive heart failure ISO RGD:1323009 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27768893 11977487 KAT8 lysine acetyltransferase 8 gene DOID:630 genetic disease ISO RGD:1323009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:31794431 11977487 KAT8 lysine acetyltransferase 8 gene DOID:9000897 LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME ISO RGD:1323009 D RGD:7240710 20201216 OMIM 11977487 KAT8 lysine acetyltransferase 8 gene DOID:9000897 LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME ISO RGD:1323009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Li-Ghorbani-Weisz-Hubshman syndrome PMID:25741868|PMID:31794431 11977487 KAT8 lysine acetyltransferase 8 gene DOID:9003936 Cardiomegaly ISO RGD:1323010 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart (mouse) PMID:24802406|REF_RGD_ID:9586036 11977487 KAT8 lysine acetyltransferase 8 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1323009 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:24802406|REF_RGD_ID:9586036 11977508 RAB9A RAB9A, member RAS oncogene family gene DOID:0050777 Joubert syndrome ISO RGD:1350613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:27081566|PMID:28492532 11977508 RAB9A RAB9A, member RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:1350613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11977508 RAB9A RAB9A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1350613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977508 RAB9A RAB9A, member RAS oncogene family gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11977520 CNBD2 cyclic nucleotide binding domain containing 2 gene DOID:630 genetic disease ISO RGD:1323261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977546 MAD2L1 mitotic arrest deficient 2 like 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1322050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11977546 MAD2L1 mitotic arrest deficient 2 like 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1322050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18691855 11977546 MAD2L1 mitotic arrest deficient 2 like 1 gene DOID:630 genetic disease ISO RGD:1322050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977546 MAD2L1 mitotic arrest deficient 2 like 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1322050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11977546 MAD2L1 mitotic arrest deficient 2 like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11977555 LOC100991103 apoptosis-associated speck-like protein containing a CARD gene DOID:0050685 small cell carcinoma ISO RGD:1602723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778195 11977555 LOC100991103 apoptosis-associated speck-like protein containing a CARD gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1602723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11977555 LOC100991103 apoptosis-associated speck-like protein containing a CARD gene DOID:1749 squamous cell carcinoma ISO RGD:1602723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778195 11977555 LOC100991103 apoptosis-associated speck-like protein containing a CARD gene DOID:1790 malignant mesothelioma ISO RGD:1602723 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26935421 11977555 LOC100991103 apoptosis-associated speck-like protein containing a CARD gene DOID:182 calcinosis ISO RGD:1602723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11977555 LOC100991103 apoptosis-associated speck-like protein containing a CARD gene DOID:299 adenocarcinoma ISO RGD:1602723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778195 11977555 LOC100991103 apoptosis-associated speck-like protein containing a CARD gene DOID:3908 lung non-small cell carcinoma ISO RGD:1602723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778195 11977555 LOC100991103 apoptosis-associated speck-like protein containing a CARD gene DOID:4079 heart valve disease ISO RGD:1602723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11977555 LOC100991103 apoptosis-associated speck-like protein containing a CARD gene DOID:4552 large cell carcinoma ISO RGD:1602723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778195 11977555 LOC100991103 apoptosis-associated speck-like protein containing a CARD gene DOID:557 kidney disease ISO RGD:1602723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:22647887|PMID:24508291 11977555 LOC100991103 apoptosis-associated speck-like protein containing a CARD gene DOID:630 genetic disease ISO RGD:1602723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977555 LOC100991103 apoptosis-associated speck-like protein containing a CARD gene DOID:684 hepatocellular carcinoma ISO RGD:1602723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17471463 11977555 LOC100991103 apoptosis-associated speck-like protein containing a CARD gene DOID:9000217 Stomach Neoplasms ISO RGD:1602723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11977555 LOC100991103 apoptosis-associated speck-like protein containing a CARD gene DOID:9001542 Albuminuria ISO RGD:1602723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22647887 11977555 LOC100991103 apoptosis-associated speck-like protein containing a CARD gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11977555 LOC100991103 apoptosis-associated speck-like protein containing a CARD gene DOID:9004657 Weight Gain ISO RGD:1602723 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24508291 11977555 LOC100991103 apoptosis-associated speck-like protein containing a CARD gene DOID:9005172 Lung Neoplasms ISO RGD:1602723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778195 11977555 LOC100991103 apoptosis-associated speck-like protein containing a CARD gene DOID:9008443 Colorectal Neoplasms ISO RGD:1602723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17986858 11977555 LOC100991103 apoptosis-associated speck-like protein containing a CARD gene DOID:9279 hyperhomocysteinemia ISO RGD:1602723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22647887 11977565 ABI2 abl interactor 2 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1353143 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11977565 ABI2 abl interactor 2 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1353143 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11977565 ABI2 abl interactor 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:1353143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11977565 ABI2 abl interactor 2 gene DOID:630 genetic disease ISO RGD:1353143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977565 ABI2 abl interactor 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1353143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 11977565 ABI2 abl interactor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11977565 ABI2 abl interactor 2 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1353143 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11977581 BZW2 basic leucine zipper and W2 domains 2 gene DOID:0080600 COVID-19 ISO RGD:731291 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11977581 BZW2 basic leucine zipper and W2 domains 2 gene DOID:0111234 congenital muscular dystrophy-dystroglycanopathy A7 ISO RGD:731291 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 PMID:23288328|PMID:28492532 11977581 BZW2 basic leucine zipper and W2 domains 2 gene DOID:3910 lung adenocarcinoma ISO RGD:731291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11977581 BZW2 basic leucine zipper and W2 domains 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11977581 BZW2 basic leucine zipper and W2 domains 2 gene DOID:630 genetic disease ISO RGD:731291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977581 BZW2 basic leucine zipper and W2 domains 2 gene DOID:9006205 Animal Disease Models ISO RGD:731291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11977602 ZCCHC2 zinc finger CCHC-type containing 2 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1343061 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 11977602 ZCCHC2 zinc finger CCHC-type containing 2 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1343061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 11977602 ZCCHC2 zinc finger CCHC-type containing 2 gene DOID:3312 bipolar disorder ISO RGD:1343061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 11977602 ZCCHC2 zinc finger CCHC-type containing 2 gene DOID:630 genetic disease ISO RGD:1343061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977602 ZCCHC2 zinc finger CCHC-type containing 2 gene DOID:9001488 Human Influenza ISO RGD:1343061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11977624 LOC100992975 olfactory receptor 4S1 gene DOID:1059 intellectual disability ISO RGD:1348625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11977624 LOC100992975 olfactory receptor 4S1 gene DOID:630 genetic disease ISO RGD:1348625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977627 DCUN1D5 defective in cullin neddylation 1 domain containing 5 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1601949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 11977627 DCUN1D5 defective in cullin neddylation 1 domain containing 5 gene DOID:1059 intellectual disability ISO RGD:1601949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11977627 DCUN1D5 defective in cullin neddylation 1 domain containing 5 gene DOID:12704 ataxia telangiectasia ISO RGD:1601949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11977627 DCUN1D5 defective in cullin neddylation 1 domain containing 5 gene DOID:630 genetic disease ISO RGD:1601949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977648 APAF1 apoptotic peptidase activating factor 1 gene DOID:0080074 neural tube defect ISO RGD:733293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:25741868 11977648 APAF1 apoptotic peptidase activating factor 1 gene DOID:0080855 Parkinsonism treatment ISO RGD:733294 D RGD:9068941 20200609 RGD PMID:11535810|REF_RGD_ID:13503334 11977648 APAF1 apoptotic peptidase activating factor 1 gene DOID:11832 visual epilepsy ISO RGD:620575 D RGD:9068941 20200609 RGD protein:increased activity:hippocampus PMID:11753565|REF_RGD_ID:2325750 11977648 APAF1 apoptotic peptidase activating factor 1 gene DOID:14330 Parkinson's disease ISO RGD:733293 D RGD:9068941 20200609 RGD PMID:24835407|REF_RGD_ID:13503333 11977648 APAF1 apoptotic peptidase activating factor 1 gene DOID:1793 pancreatic cancer ISO RGD:733293 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:17224646|REF_RGD_ID:2325739 11977648 APAF1 apoptotic peptidase activating factor 1 gene DOID:219 colon cancer treatment ISO RGD:620575 D RGD:9068941 20200609 RGD PMID:22369161|REF_RGD_ID:13703116 11977648 APAF1 apoptotic peptidase activating factor 1 gene DOID:2316 brain ischemia ISO RGD:620575 D RGD:9068941 20200609 RGD protein:increased expression:striatum PMID:17640469|REF_RGD_ID:2325742 11977648 APAF1 apoptotic peptidase activating factor 1 gene DOID:2671 transitional cell carcinoma ISO RGD:733293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17133271 11977648 APAF1 apoptotic peptidase activating factor 1 gene DOID:3490 Noonan syndrome ISO RGD:733294 D RGD:9068941 20220825 MouseDO 11977648 APAF1 apoptotic peptidase activating factor 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:620575 D RGD:9068941 20200609 RGD PMID:24012531|REF_RGD_ID:13703113 11977648 APAF1 apoptotic peptidase activating factor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733293 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:28982084|REF_RGD_ID:13703106 11977648 APAF1 apoptotic peptidase activating factor 1 gene DOID:4450 renal cell carcinoma ISO RGD:733293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17133271 11977648 APAF1 apoptotic peptidase activating factor 1 gene DOID:5327 retinal detachment ISO RGD:733293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18497877 11977648 APAF1 apoptotic peptidase activating factor 1 gene DOID:630 genetic disease ISO RGD:733293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977648 APAF1 apoptotic peptidase activating factor 1 gene DOID:767 muscular atrophy ISO RGD:620575 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle tissue PMID:17029665|REF_RGD_ID:2325745 11977648 APAF1 apoptotic peptidase activating factor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620575 D RGD:9068941 20200609 RGD PMID:21748659|REF_RGD_ID:10053608 11977648 APAF1 apoptotic peptidase activating factor 1 gene DOID:9000998 Brain Injuries ISO RGD:620575 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:11567033|REF_RGD_ID:2325751 11977648 APAF1 apoptotic peptidase activating factor 1 gene DOID:9001390 Testis Reperfusion Injury treatment ISO RGD:620575 D RGD:9068941 20200609 RGD PMID:27748062|REF_RGD_ID:13703108 11977648 APAF1 apoptotic peptidase activating factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11977648 APAF1 apoptotic peptidase activating factor 1 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:620575 D RGD:9068941 20200609 RGD PMID:22143029|REF_RGD_ID:5686888 11977648 APAF1 apoptotic peptidase activating factor 1 gene DOID:9001946 Skin Abnormalities ISO RGD:733293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9753320 11977648 APAF1 apoptotic peptidase activating factor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:620575 D RGD:9068941 20200609 RGD PMID:18205898|REF_RGD_ID:2292105 11977648 APAF1 apoptotic peptidase activating factor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:620575 D RGD:9068941 20200609 RGD PMID:14973070|REF_RGD_ID:2325748 11977648 APAF1 apoptotic peptidase activating factor 1 gene DOID:9005465 Renal Ischemia treatment ISO RGD:620575 D RGD:9068941 20200609 RGD PMID:25330150|REF_RGD_ID:13703111 11977648 APAF1 apoptotic peptidase activating factor 1 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:620575 D RGD:9068941 20200609 RGD PMID:26362957|REF_RGD_ID:13703110 11977648 APAF1 apoptotic peptidase activating factor 1 gene DOID:9008296 Eye Abnormalities ISO RGD:733293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9753320 11977648 APAF1 apoptotic peptidase activating factor 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9753320|PMID:9753321 11977713 BRD9 bromodomain containing 9 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1316511 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 11977713 BRD9 bromodomain containing 9 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1316511 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 11977713 BRD9 bromodomain containing 9 gene DOID:630 genetic disease ISO RGD:1316511 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977713 BRD9 bromodomain containing 9 gene DOID:8541 Sezary's disease ISO RGD:1316511 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 11977713 BRD9 bromodomain containing 9 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1316511 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 11977741 PLK2 polo like kinase 2 gene DOID:10485 esophageal atresia ISO RGD:1348089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 11977741 PLK2 polo like kinase 2 gene DOID:305 carcinoma ISO RGD:1348089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11977741 PLK2 polo like kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11977741 PLK2 polo like kinase 2 gene DOID:630 genetic disease ISO RGD:1348089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977741 PLK2 polo like kinase 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1348089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11977741 PLK2 polo like kinase 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1348089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11977741 PLK2 polo like kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11977741 PLK2 polo like kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1348089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11977741 PLK2 polo like kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:620760 D RGD:9068941 20220331 RGD mRNA, protein:increased expression:mammary gland (rat) PMID:12376462|REF_RGD_ID:2292404 11977741 PLK2 polo like kinase 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1348089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12897130 11977759 REV3L REV3 like, DNA directed polymerase zeta catalytic subunit gene DOID:1520 colon carcinoma ISO RGD:1316069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:25058500|PMID:27165003 11977759 REV3L REV3 like, DNA directed polymerase zeta catalytic subunit gene DOID:630 genetic disease ISO RGD:1316069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11977807 FAM200B family with sequence similarity 200 member B gene DOID:0050777 Joubert syndrome ISO RGD:3130454 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11977807 FAM200B family with sequence similarity 200 member B gene DOID:630 genetic disease ISO RGD:3130454 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977828 DOCK6 dedicator of cytokinesis 6 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1315180 D RGD:9068941 20221222 RGD PMID:34742001|REF_RGD_ID:155791563 11977828 DOCK6 dedicator of cytokinesis 6 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1315180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11977828 DOCK6 dedicator of cytokinesis 6 gene DOID:0060227 Adams-Oliver syndrome ISO RGD:1315180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome PMID:21820096|PMID:24033266|PMID:25558065|PMID:25824905|PMID:28492532 11977828 DOCK6 dedicator of cytokinesis 6 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1315180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11977828 DOCK6 dedicator of cytokinesis 6 gene DOID:0111254 glutaric acidemia I ISO RGD:1315180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11977828 DOCK6 dedicator of cytokinesis 6 gene DOID:10534 stomach cancer disease_progression ISO RGD:1315180 D RGD:9068941 20221222 RGD PMID:32753649|REF_RGD_ID:155791565 11977828 DOCK6 dedicator of cytokinesis 6 gene DOID:10534 stomach cancer severity ISO RGD:1315180 D RGD:9068941 20221222 RGD PMID:29587866|REF_RGD_ID:155791564 11977828 DOCK6 dedicator of cytokinesis 6 gene DOID:1059 intellectual disability ISO RGD:1315180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11977828 DOCK6 dedicator of cytokinesis 6 gene DOID:10907 microcephaly ISO RGD:1315180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11977828 DOCK6 dedicator of cytokinesis 6 gene DOID:10908 hydrocephalus ISO RGD:1315180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 1 11977828 DOCK6 dedicator of cytokinesis 6 gene DOID:13810 familial hypercholesterolemia ISO RGD:1315180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:14756670|PMID:17094996|PMID:19538517|PMID:20045108|PMID:22698793|PMID:25741868 11977828 DOCK6 dedicator of cytokinesis 6 gene DOID:3413 alpha-mannosidosis ISO RGD:1315180 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11977828 DOCK6 dedicator of cytokinesis 6 gene DOID:5408 Paget's disease of bone ISO RGD:1315180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone Paget disease PMID:25741868|PMID:28492532 11977828 DOCK6 dedicator of cytokinesis 6 gene DOID:630 genetic disease ISO RGD:1315180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:21820096|PMID:23522784|PMID:25091416|PMID:25724810|PMID:25741868|PMID:25824905|PMID:26457590|PMID:28160419|PMID:28492532|PMID:28884918|PMID:29961505|PMID:30111349|PMID:30293987 11977828 DOCK6 dedicator of cytokinesis 6 gene DOID:9002962 Adams-Oliver Syndrome 2 ISO RGD:1315180 D RGD:7240710 20180130 OMIM 11977828 DOCK6 dedicator of cytokinesis 6 gene DOID:9002962 Adams-Oliver Syndrome 2 ISO RGD:1315180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 2 PMID:16199547|PMID:17159513|PMID:21820096|PMID:23522784|PMID:25091416|PMID:25558065|PMID:25741868|PMID:25824905|PMID:26457590|PMID:28135719|PMID:28492532|PMID:28884918|PMID:29924900|PMID:29961505|PMID:30111349|PMID:8849019 11977828 DOCK6 dedicator of cytokinesis 6 gene DOID:9004220 Adams-Oliver Syndrome 1 ISO RGD:1315180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 1 PMID:25741868|PMID:26457590|PMID:29924900 11977828 DOCK6 dedicator of cytokinesis 6 gene DOID:9005961 Familial Hypercholanemia 1 ISO RGD:1315180 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypercholanemia, familial 1 11977828 DOCK6 dedicator of cytokinesis 6 gene DOID:9006618 Liver Metastasis ameliorates ISO RGD:1315180 D RGD:9068941 20221222 RGD associated with stomach cancer; PMID:29587866|REF_RGD_ID:155791564 11977881 CCS copper chaperone for superoxide dismutase gene DOID:1059 intellectual disability ISO RGD:733606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11977881 CCS copper chaperone for superoxide dismutase gene DOID:1289 neurodegenerative disease ISO RGD:733606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder PMID:22243965|PMID:22508683 11977881 CCS copper chaperone for superoxide dismutase gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:733606 D RGD:9068941 20200609 RGD PMID:26826269|REF_RGD_ID:13524551 11977881 CCS copper chaperone for superoxide dismutase gene DOID:5113 nutritional deficiency disease ISO RGD:733606 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12514262 11977881 CCS copper chaperone for superoxide dismutase gene DOID:630 genetic disease ISO RGD:733606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977881 CCS copper chaperone for superoxide dismutase gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:733606 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11977881 CCS copper chaperone for superoxide dismutase gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:733606 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11977881 CCS copper chaperone for superoxide dismutase gene DOID:9008510 Chronic Hepatitis ISO RGD:733606 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 11977895 SMO smoothened, frizzled class receptor gene DOID:0050894 ameloblastoma ISO RGD:733306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24859340 11977895 SMO smoothened, frizzled class receptor gene DOID:0050902 medulloblastoma ISO RGD:733306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:19726788|PMID:22679179|PMID:25759020 11977895 SMO smoothened, frizzled class receptor gene DOID:0050902 medulloblastoma treatment ISO RGD:735969 D RGD:9068941 20211112 RGD PMID:22084163|REF_RGD_ID:150521622 11977895 SMO smoothened, frizzled class receptor gene DOID:0060071 pre-malignant neoplasm ISO RGD:3726 D RGD:9068941 20211105 RGD PMID:30537251|REF_RGD_ID:150520178 11977895 SMO smoothened, frizzled class receptor gene DOID:0060318 acute promyelocytic leukemia ISO RGD:733306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23867347 11977895 SMO smoothened, frizzled class receptor gene DOID:10534 stomach cancer disease_progression ISO RGD:733306 D RGD:9068941 20210813 RGD mRNA:increased expression:liver PMID:16339184|REF_RGD_ID:150340550 11977895 SMO smoothened, frizzled class receptor gene DOID:10534 stomach cancer treatment ISO RGD:733306 D RGD:9068941 20210813 RGD PMID:28350784|REF_RGD_ID:150340549 11977895 SMO smoothened, frizzled class receptor gene DOID:10534 stomach cancer treatment ISO RGD:735969 D RGD:9068941 20210813 RGD PMID:28350784|REF_RGD_ID:150340549 11977895 SMO smoothened, frizzled class receptor gene DOID:10907 microcephaly ISO RGD:733306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11977895 SMO smoothened, frizzled class receptor gene DOID:11832 visual epilepsy ISO RGD:3726 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus PMID:16197497|REF_RGD_ID:2324992 11977895 SMO smoothened, frizzled class receptor gene DOID:1793 pancreatic cancer ISO RGD:733306 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19396459|REF_RGD_ID:2324910 11977895 SMO smoothened, frizzled class receptor gene DOID:1793 pancreatic cancer ISO RGD:735969 D RGD:9068941 20200609 RGD PMID:19460966|REF_RGD_ID:2324978 11977895 SMO smoothened, frizzled class receptor gene DOID:1793 pancreatic cancer treatment ISO RGD:733306 D RGD:9068941 20210813 RGD PMID:22859707|REF_RGD_ID:150340554 11977895 SMO smoothened, frizzled class receptor gene DOID:219 colon cancer ISO RGD:733306 D RGD:9068941 20210813 RGD protein:increased expression:colon PMID:23098507|REF_RGD_ID:150340555 11977895 SMO smoothened, frizzled class receptor gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:733306 D RGD:9068941 20200609 RGD PMID:15308259|REF_RGD_ID:12801443 11977895 SMO smoothened, frizzled class receptor gene DOID:2513 basal cell carcinoma ISO RGD:733306 D RGD:7240710 20230505 OMIM 11977895 SMO smoothened, frizzled class receptor gene DOID:2513 basal cell carcinoma ISO RGD:733306 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 PMID:19726788|PMID:22679179|PMID:25741868|PMID:25759020|PMID:28492532|PMID:9422511 11977895 SMO smoothened, frizzled class receptor gene DOID:2513 basal cell carcinoma disease_progression ISO RGD:733306 D RGD:9068941 20200609 RGD mRNA:increased expression:skin of body PMID:10504535|REF_RGD_ID:12801453 11977895 SMO smoothened, frizzled class receptor gene DOID:2602 chondroma treatment ISO RGD:735969 D RGD:9068941 20200609 RGD PMID:26091072|REF_RGD_ID:12910968 11977895 SMO smoothened, frizzled class receptor gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3726 D RGD:9068941 20200609 RGD PMID:23499832|PMID:23696546|REF_RGD_ID:12832759|REF_RGD_ID:12879404 11977895 SMO smoothened, frizzled class receptor gene DOID:3565 meningioma ISO RGD:733306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23334667 11977895 SMO smoothened, frizzled class receptor gene DOID:3587 pancreatic ductal carcinoma ISO RGD:733306 D RGD:9068941 20200609 RGD PMID:16826192|REF_RGD_ID:2324981 11977895 SMO smoothened, frizzled class receptor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11977895 SMO smoothened, frizzled class receptor gene DOID:4914 esophagus adenocarcinoma treatment ISO RGD:3726 D RGD:9068941 20210813 RGD PMID:23108119|REF_RGD_ID:150340553 11977895 SMO smoothened, frizzled class receptor gene DOID:4989 pancreatitis ISO RGD:3726 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:20062892|REF_RGD_ID:2324983 11977895 SMO smoothened, frizzled class receptor gene DOID:5082 liver cirrhosis treatment ISO RGD:3726 D RGD:9068941 20211119 RGD PMID:22994359|REF_RGD_ID:150521663 11977895 SMO smoothened, frizzled class receptor gene DOID:5593 gastric papillary adenocarcinoma ISO RGD:733306 D RGD:9068941 20210813 RGD protein:increased expression:stomach PMID:17259107|REF_RGD_ID:150340552 11977895 SMO smoothened, frizzled class receptor gene DOID:630 genetic disease ISO RGD:733306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977895 SMO smoothened, frizzled class receptor gene DOID:6595 gastric tubular adenocarcinoma ISO RGD:733306 D RGD:9068941 20210813 RGD protein:increased expression:stomach PMID:17259107|REF_RGD_ID:150340552 11977895 SMO smoothened, frizzled class receptor gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:733306 D RGD:9068941 20210813 RGD DNA:SNP: :rs3824 (human) PMID:25944162|REF_RGD_ID:150340548 11977895 SMO smoothened, frizzled class receptor gene DOID:687 hepatoblastoma ISO RGD:733306 D RGD:9068941 20211112 RGD protein:increased expression:liver PMID:21159571|REF_RGD_ID:150521618 11977895 SMO smoothened, frizzled class receptor gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:733306 D RGD:9068941 20211112 RGD PMID:23379358|REF_RGD_ID:150521620 11977895 SMO smoothened, frizzled class receptor gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:733306 D RGD:9068941 20211112 RGD DNA:missense mutations PMID:33209614|REF_RGD_ID:150521621 11977895 SMO smoothened, frizzled class receptor gene DOID:9000066 Jaw Abnormalities ISO RGD:733306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16580747 11977895 SMO smoothened, frizzled class receptor gene DOID:9000081 Lymphatic Metastasis ISO RGD:733306 D RGD:9068941 20211105 RGD associated with colorectal cancer PMID:30784110|REF_RGD_ID:150520177 11977895 SMO smoothened, frizzled class receptor gene DOID:9000392 Fluoride Poisoning treatment ISO RGD:3726 D RGD:9068941 20200609 RGD PMID:24388991|REF_RGD_ID:12879411 11977895 SMO smoothened, frizzled class receptor gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:3726 D RGD:9068941 20211112 RGD PMID:28149272|REF_RGD_ID:150521623 11977895 SMO smoothened, frizzled class receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:733306 D RGD:9068941 20210813 RGD associated with colon cancer PMID:23098507|REF_RGD_ID:150340555 11977895 SMO smoothened, frizzled class receptor gene DOID:9001441 Adenomatous Polyps ISO RGD:735969 D RGD:9068941 20210813 RGD PMID:19427313|REF_RGD_ID:150340551 11977895 SMO smoothened, frizzled class receptor gene DOID:9002201 Maxillary Neoplasms ISO RGD:733306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24859340 11977895 SMO smoothened, frizzled class receptor gene DOID:9002457 Experimental Arthritis treatment ISO RGD:3726 D RGD:9068941 20200609 RGD PMID:25821409|REF_RGD_ID:12879456 11977895 SMO smoothened, frizzled class receptor gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:733306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9581815 11977895 SMO smoothened, frizzled class receptor gene DOID:9004464 Skin Neoplasms ISO RGD:733306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9581815 11977895 SMO smoothened, frizzled class receptor gene DOID:9005729 Chronic Experimental Pancreatitis ISO RGD:3726 D RGD:9068941 20200609 RGD PMID:24782623|REF_RGD_ID:12879405 11977895 SMO smoothened, frizzled class receptor gene DOID:9006041 Osteoarthritis, Hip ISO RGD:733306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 11977895 SMO smoothened, frizzled class receptor gene DOID:9006151 Choroidal Neovascularization, Experimental treatment ISO RGD:3726 D RGD:9068941 20200609 RGD PMID:21063852|REF_RGD_ID:12859045 11977895 SMO smoothened, frizzled class receptor gene DOID:9007456 Female Infertility ISO RGD:733306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28560483 11977895 SMO smoothened, frizzled class receptor gene DOID:9007502 Brain Neoplasms ISO RGD:733306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9581815 11977895 SMO smoothened, frizzled class receptor gene DOID:9007660 Pallister-Hall-like Syndrome ISO RGD:733306 D RGD:7240710 20200812 OMIM 11977895 SMO smoothened, frizzled class receptor gene DOID:9007660 Pallister-Hall-like Syndrome ISO RGD:733306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hypothalamic hamartoma syndrome | ClinVar Annotator: match by term: Hamartoma of the hypothalamus | ClinVar Annotator: match by term: Hypothalamic hamartoma PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532|PMID:30497210|PMID:32413283 11977895 SMO smoothened, frizzled class receptor gene DOID:9007790 Winter Shortland Temple Syndrome ISO RGD:733306 D RGD:7240710 20190315 OMIM 11977895 SMO smoothened, frizzled class receptor gene DOID:9007790 Winter Shortland Temple Syndrome ISO RGD:733306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Curry-Jones syndrome PMID:16531740|PMID:18798318|PMID:24728327|PMID:25741868|PMID:27236920|PMID:3144990|PMID:7606318 11977895 SMO smoothened, frizzled class receptor gene DOID:9206 Barrett's esophagus treatment ISO RGD:3726 D RGD:9068941 20210813 RGD PMID:23108119|REF_RGD_ID:150340553 11977895 SMO smoothened, frizzled class receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11977895 SMO smoothened, frizzled class receptor gene DOID:9256 colorectal cancer ISO RGD:733306 D RGD:9068941 20211105 RGD PMID:22901214|REF_RGD_ID:150520174 11977895 SMO smoothened, frizzled class receptor gene DOID:9282 ocular hypertension ISO RGD:3726 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retinal ganglion cell PMID:20071678|REF_RGD_ID:2324982 11977895 SMO smoothened, frizzled class receptor gene DOID:9675 pulmonary emphysema ISO RGD:735969 D RGD:9068941 20220825 MouseDO OMIM:130700 11977911 LOC100983651 zinc finger protein 7 gene DOID:630 genetic disease ISO RGD:1321655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977960 VWDE von Willebrand factor D and EGF domains gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2299987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11977960 VWDE von Willebrand factor D and EGF domains gene DOID:630 genetic disease ISO RGD:2299987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977995 AIDA axin interactor, dorsalization associated gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1603969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 11977995 AIDA axin interactor, dorsalization associated gene DOID:0080600 COVID-19 ISO RGD:1603969 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11977995 AIDA axin interactor, dorsalization associated gene DOID:1540 parathyroid carcinoma ISO RGD:1603969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11977995 AIDA axin interactor, dorsalization associated gene DOID:630 genetic disease ISO RGD:1603969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11977995 AIDA axin interactor, dorsalization associated gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11977995 AIDA axin interactor, dorsalization associated gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11978009 MYBPC1 myosin binding protein C1 gene DOID:0050646 distal arthrogryposis ISO RGD:1351602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis PMID:25741868 11978009 MYBPC1 myosin binding protein C1 gene DOID:0060654 lethal congenital contracture syndrome 4 ISO RGD:1351602 D RGD:7240710 20180130 OMIM 11978009 MYBPC1 myosin binding protein C1 gene DOID:0060654 lethal congenital contracture syndrome 4 ISO RGD:1351602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 4 PMID:18414213|PMID:22610851|PMID:25741868 11978009 MYBPC1 myosin binding protein C1 gene DOID:0080100 congenital myopathy ISO RGD:1550682 D RGD:9068941 20220825 MouseDO OMIM:255300 11978009 MYBPC1 myosin binding protein C1 gene DOID:0111598 distal arthrogryposis type 1B ISO RGD:1351602 D RGD:7240710 20180130 OMIM 11978009 MYBPC1 myosin binding protein C1 gene DOID:0111598 distal arthrogryposis type 1B ISO RGD:1351602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1B PMID:18414213|PMID:20045868|PMID:22415774|PMID:23657818|PMID:23873045|PMID:25741868|PMID:26287277|PMID:28492532 11978009 MYBPC1 myosin binding protein C1 gene DOID:630 genetic disease ISO RGD:1351602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31025394|PMID:31264822 11978009 MYBPC1 myosin binding protein C1 gene DOID:9004398 Congenital Myopathy 16 ISO RGD:1351602 D RGD:7240710 20191016 OMIM 11978009 MYBPC1 myosin binding protein C1 gene DOID:9004398 Congenital Myopathy 16 ISO RGD:1351602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, with tremor PMID:18414213|PMID:22610851|PMID:25741868|PMID:28492532|PMID:31025394|PMID:31264822 11978064 ENTHD1 ENTH domain containing 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1602180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11978064 ENTHD1 ENTH domain containing 1 gene DOID:630 genetic disease ISO RGD:1602180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11978075 MPST mercaptopyruvate sulfurtransferase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:735977 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11978075 MPST mercaptopyruvate sulfurtransferase gene DOID:0090036 myoclonic dystonia 26 ISO RGD:735977 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11978075 MPST mercaptopyruvate sulfurtransferase gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:735977 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11978075 MPST mercaptopyruvate sulfurtransferase gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735977 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11978075 MPST mercaptopyruvate sulfurtransferase gene DOID:1909 melanoma ISO RGD:735977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25205294 11978075 MPST mercaptopyruvate sulfurtransferase gene DOID:630 genetic disease ISO RGD:735977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11978075 MPST mercaptopyruvate sulfurtransferase gene DOID:9352 type 2 diabetes mellitus ISO RGD:620065 D RGD:9068941 20200609 RGD PMID:20127051|REF_RGD_ID:5134362 11978098 FSCB fibrous sheath CABYR binding protein gene DOID:13636 Fanconi anemia ISO RGD:1343697 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532|PMID:29895858|PMID:30075111 11978098 FSCB fibrous sheath CABYR binding protein gene DOID:630 genetic disease ISO RGD:1343697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11978098 FSCB fibrous sheath CABYR binding protein gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343697 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11978103 SPRED3 sprouty related EVH1 domain containing 3 gene DOID:630 genetic disease ISO RGD:1606081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11978114 C2CD2L C2CD2 like gene DOID:0060017 CD3epsilon deficiency ISO RGD:1321089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 11978114 C2CD2L C2CD2 like gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1321089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11978114 C2CD2L C2CD2 like gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1321089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:22742743|PMID:28492532 11978114 C2CD2L C2CD2 like gene DOID:0080690 RASopathy ISO RGD:1321089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:22742743|PMID:28492532 11978114 C2CD2L C2CD2 like gene DOID:0110651 long QT syndrome 10 ISO RGD:1321089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11978114 C2CD2L C2CD2 like gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1321089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates PMID:22742743|PMID:28492532 11978114 C2CD2L C2CD2 like gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1321089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 11978114 C2CD2L C2CD2 like gene DOID:0111971 immunodeficiency 18 ISO RGD:1321089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 11978114 C2CD2L C2CD2 like gene DOID:0111972 immunodeficiency 19 ISO RGD:1321089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 11978114 C2CD2L C2CD2 like gene DOID:0111973 immunodeficiency 17 ISO RGD:1321089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 11978114 C2CD2L C2CD2 like gene DOID:5419 schizophrenia ISO RGD:1321089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11978114 C2CD2L C2CD2 like gene DOID:630 genetic disease ISO RGD:1321089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11978114 C2CD2L C2CD2 like gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1321089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11978114 C2CD2L C2CD2 like gene DOID:9007661 Dwarfism ISO RGD:1321089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11978132 PRDM10 PR/SET domain 10 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1348926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11978132 PRDM10 PR/SET domain 10 gene DOID:5419 schizophrenia ISO RGD:1348926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11978132 PRDM10 PR/SET domain 10 gene DOID:630 genetic disease ISO RGD:1348926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11978132 PRDM10 PR/SET domain 10 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1348926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11978132 PRDM10 PR/SET domain 10 gene DOID:9007661 Dwarfism ISO RGD:1348926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11978193 LARP4 La ribonucleoprotein 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:1603283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11978193 LARP4 La ribonucleoprotein 4 gene DOID:630 genetic disease ISO RGD:1603283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11978257 NIPAL4 NIPA like domain containing 4 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:2306343 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:15317751|PMID:17557927|PMID:19434086|PMID:20016120|PMID:20301593|PMID:22098531|PMID:22622417|PMID:24397709|PMID:25326635|PMID:25458912|PMID:25741868|PMID:26762237|PMID:27025581|PMID:28492532|PMID:29444371|PMID:29453417|PMID:31046801|PMID:31168818|PMID:31532840|PMID:33786896 11978257 NIPAL4 NIPA like domain containing 4 gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:2306343 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 11978257 NIPAL4 NIPA like domain containing 4 gene DOID:0060715 autosomal recessive congenital ichthyosis 6 ISO RGD:2306343 D RGD:7240710 20180130 OMIM 11978257 NIPAL4 NIPA like domain containing 4 gene DOID:0060715 autosomal recessive congenital ichthyosis 6 ISO RGD:2306343 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 6 PMID:15317751|PMID:17557927|PMID:19434086|PMID:20016120|PMID:20301593|PMID:22098531|PMID:22622417|PMID:24397709|PMID:25326635|PMID:25458912|PMID:25741868|PMID:26762237|PMID:27025581|PMID:28492532|PMID:29444371|PMID:29453417|PMID:31046801|PMID:31168818|PMID:31532840|PMID:33786896 11978257 NIPAL4 NIPA like domain containing 4 gene DOID:0111195 erythrokeratodermia variabilis et progressiva 1 ISO RGD:2306343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1 11978257 NIPAL4 NIPA like domain containing 4 gene DOID:630 genetic disease ISO RGD:2306343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11978267 SNRPD3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:1826 epilepsy ISO RGD:1345342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11978267 SNRPD3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:305 carcinoma ISO RGD:1345342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11978267 SNRPD3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1345342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11978267 SNRPD3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:5419 schizophrenia ISO RGD:1345342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11978267 SNRPD3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:630 genetic disease ISO RGD:1345342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11978267 SNRPD3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1345342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11978267 SNRPD3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1345342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11978267 SNRPD3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:9007429 Soft Tissue Neoplasms severity ISO RGD:1345342 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:multiple (human) PMID:20165692|REF_RGD_ID:10766477 11978267 SNRPD3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:9074 systemic lupus erythematosus ISO RGD:1345342 D RGD:9068941 20200609 RGD PMID:17640359|REF_RGD_ID:10755704 11978285 DYNLL1 dynein light chain LC8-type 1 gene DOID:0060319 cardiac arrest ISO RGD:619866 D RGD:9068941 20200609 RGD PMID:9522364|REF_RGD_ID:13208524 11978285 DYNLL1 dynein light chain LC8-type 1 gene DOID:0080600 COVID-19 ISO RGD:731010 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11978285 DYNLL1 dynein light chain LC8-type 1 gene DOID:10763 hypertension treatment ISO RGD:619866 D RGD:9068941 20200609 RGD PMID:24035314|REF_RGD_ID:13207430 11978285 DYNLL1 dynein light chain LC8-type 1 gene DOID:1875 impotence treatment ISO RGD:619866 D RGD:9068941 20200609 RGD PMID:17433082|REF_RGD_ID:13207433 11978285 DYNLL1 dynein light chain LC8-type 1 gene DOID:2316 brain ischemia ISO RGD:731010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9522364 11978285 DYNLL1 dynein light chain LC8-type 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:619866 D RGD:9068941 20200609 RGD PMID:9522364|REF_RGD_ID:13208524 11978285 DYNLL1 dynein light chain LC8-type 1 gene DOID:6000 congestive heart failure ISO RGD:619866 D RGD:9068941 20200609 RGD protein:increased expression:paraventricular nucleus PMID:23832698|REF_RGD_ID:7257598 11978297 GSTO1 glutathione S-transferase omega 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1345331 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11978297 GSTO1 glutathione S-transferase omega 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1345331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11978297 GSTO1 glutathione S-transferase omega 1 gene DOID:0080600 COVID-19 ISO RGD:1345331 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11978297 GSTO1 glutathione S-transferase omega 1 gene DOID:10652 Alzheimer's disease no_association ISO RGD:1345331 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p. A140D (rs4925) (human) PMID:15917099|REF_RGD_ID:5490514 11978297 GSTO1 glutathione S-transferase omega 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:1345331 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p. A140D (rs4925) (human) PMID:14570706|REF_RGD_ID:1358651 11978297 GSTO1 glutathione S-transferase omega 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1345331 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p. A140D (rs4925) (human) PMID:20818931|REF_RGD_ID:5490521 11978297 GSTO1 glutathione S-transferase omega 1 gene DOID:1240 leukemia ISO RGD:1345331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22293942 11978297 GSTO1 glutathione S-transferase omega 1 gene DOID:1289 neurodegenerative disease ISO RGD:1345331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 11978297 GSTO1 glutathione S-transferase omega 1 gene DOID:14330 Parkinson's disease onset ISO RGD:1345331 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p. A140D (rs4925) (human) PMID:14570706|REF_RGD_ID:1358651 11978297 GSTO1 glutathione S-transferase omega 1 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1345331 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p. A140D (rs4925) (human) PMID:17194543|REF_RGD_ID:5490299 11978297 GSTO1 glutathione S-transferase omega 1 gene DOID:14566 disease of cellular proliferation ISO RGD:1345331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21899313 11978297 GSTO1 glutathione S-transferase omega 1 gene DOID:37 skin disease ISO RGD:1345331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17548696 11978297 GSTO1 glutathione S-transferase omega 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1345331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 11978297 GSTO1 glutathione S-transferase omega 1 gene DOID:630 genetic disease ISO RGD:1345331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11978297 GSTO1 glutathione S-transferase omega 1 gene DOID:850 lung disease ISO RGD:1345331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22293942 11978297 GSTO1 glutathione S-transferase omega 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11978297 GSTO1 glutathione S-transferase omega 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11978297 GSTO1 glutathione S-transferase omega 1 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:1345331 D RGD:9068941 20200609 RGD protein:decreased expression;T lymphocyte: PMID:21410266|REF_RGD_ID:5491008 11978313 FMN1 formin 1 gene DOID:630 genetic disease ISO RGD:1606398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11978338 CRABP2 cellular retinoic acid binding protein 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:731412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11978338 CRABP2 cellular retinoic acid binding protein 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:731412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11978338 CRABP2 cellular retinoic acid binding protein 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:731412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11978338 CRABP2 cellular retinoic acid binding protein 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:731412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11978338 CRABP2 cellular retinoic acid binding protein 2 gene DOID:14749 methylmalonic acidemia ISO RGD:731412 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 11978338 CRABP2 cellular retinoic acid binding protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:731412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11978338 CRABP2 cellular retinoic acid binding protein 2 gene DOID:5812 MHC class II deficiency ISO RGD:731412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11978338 CRABP2 cellular retinoic acid binding protein 2 gene DOID:630 genetic disease ISO RGD:731412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11978338 CRABP2 cellular retinoic acid binding protein 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:731412 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35442568 11978338 CRABP2 cellular retinoic acid binding protein 2 gene DOID:9002801 Recurrence ISO RGD:731412 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8400267 11978338 CRABP2 cellular retinoic acid binding protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11978346 MMP2 matrix metallopeptidase 2 gene DOID:0002116 pterygium disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:19420332|REF_RGD_ID:8657043 11978346 MMP2 matrix metallopeptidase 2 gene DOID:0050700 cardiomyopathy ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:16681691|REF_RGD_ID:1581215 11978346 MMP2 matrix metallopeptidase 2 gene DOID:0050777 Joubert syndrome ISO RGD:730821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:17558409|PMID:28492532 11978346 MMP2 matrix metallopeptidase 2 gene DOID:0060074 ductal carcinoma in situ ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17642161|REF_RGD_ID:2290392 11978346 MMP2 matrix metallopeptidase 2 gene DOID:0060224 atrial fibrillation ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:18194448|REF_RGD_ID:8547896 11978346 MMP2 matrix metallopeptidase 2 gene DOID:0080001 bone disease ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17440987 11978346 MMP2 matrix metallopeptidase 2 gene DOID:0080162 lupus nephritis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22479529 11978346 MMP2 matrix metallopeptidase 2 gene DOID:0080334 aortic valve disease 2 ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:23615040|REF_RGD_ID:13204802 11978346 MMP2 matrix metallopeptidase 2 gene DOID:0080600 COVID-19 ISO RGD:730821 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 11978346 MMP2 matrix metallopeptidase 2 gene DOID:0080685 aortic dissection treatment ISO RGD:730822 D RGD:9068941 20230223 RGD Apolipoprotein E knockout PMID:33403385|REF_RGD_ID:156420156 11978346 MMP2 matrix metallopeptidase 2 gene DOID:0080696 Winchester syndrome ISO RGD:730821 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Winchester-Grossman syndrome PMID:10356396|PMID:11431697|PMID:15691365|PMID:16458924|PMID:16542393|PMID:17059372|PMID:17576681|PMID:19019335|PMID:20617897|PMID:20673868|PMID:21421877|PMID:23313298|PMID:23378725|PMID:25600631|PMID:25704319|PMID:25741868|PMID:2625626|PMID:27182040|PMID:28492532|PMID:6525336|PMID:9536098 11978346 MMP2 matrix metallopeptidase 2 gene DOID:0080746 Sweet syndrome ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:21658319|REF_RGD_ID:8657060 11978346 MMP2 matrix metallopeptidase 2 gene DOID:0080933 immunoglobulin light chain amyloidosis ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:renal glomeruli (human) PMID:16164636|REF_RGD_ID:7207084 11978346 MMP2 matrix metallopeptidase 2 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (rat) PMID:11590325|REF_RGD_ID:7207204 11978346 MMP2 matrix metallopeptidase 2 gene DOID:0111563 Sturge-Weber syndrome severity ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:23720035|REF_RGD_ID:13204823 11978346 MMP2 matrix metallopeptidase 2 gene DOID:10126 keratoconus ISO RGD:730821 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:22580443|REF_RGD_ID:8657033 11978346 MMP2 matrix metallopeptidase 2 gene DOID:10159 osteonecrosis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19070762 11978346 MMP2 matrix metallopeptidase 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18329693|REF_RGD_ID:2290389 11978346 MMP2 matrix metallopeptidase 2 gene DOID:10588 adrenoleukodystrophy ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:23185624|REF_RGD_ID:13204814 11978346 MMP2 matrix metallopeptidase 2 gene DOID:10591 pre-eclampsia ISO RGD:730821 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:placenta PMID:17083831|REF_RGD_ID:2290399 11978346 MMP2 matrix metallopeptidase 2 gene DOID:10652 Alzheimer's disease ISO RGD:730821 D RGD:9068941 20200609 RGD protein:decreased expression:platelet PMID:21875409|REF_RGD_ID:10059680 11978346 MMP2 matrix metallopeptidase 2 gene DOID:1073 renal hypertension ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:12923405|REF_RGD_ID:1302333 11978346 MMP2 matrix metallopeptidase 2 gene DOID:10763 hypertension ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:17977875|REF_RGD_ID:2290351 11978346 MMP2 matrix metallopeptidase 2 gene DOID:10763 hypertension ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18836702 11978346 MMP2 matrix metallopeptidase 2 gene DOID:10763 hypertension ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:16840178|REF_RGD_ID:1582612 11978346 MMP2 matrix metallopeptidase 2 gene DOID:10808 gastric ulcer ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach PMID:15375341|REF_RGD_ID:10043177 11978346 MMP2 matrix metallopeptidase 2 gene DOID:10941 intracranial aneurysm ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA:increased expression:blood vessel PMID:17569872|REF_RGD_ID:2290352 11978346 MMP2 matrix metallopeptidase 2 gene DOID:10941 intracranial aneurysm ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:9724118|REF_RGD_ID:1582590 11978346 MMP2 matrix metallopeptidase 2 gene DOID:10941 intracranial aneurysm susceptibility ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:16961137|REF_RGD_ID:1582646 11978346 MMP2 matrix metallopeptidase 2 gene DOID:10964 cholesteatoma of middle ear severity ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:15620146|REF_RGD_ID:8547870 11978346 MMP2 matrix metallopeptidase 2 gene DOID:11054 urinary bladder cancer ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30548095 11978346 MMP2 matrix metallopeptidase 2 gene DOID:11054 urinary bladder cancer ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:17466450|REF_RGD_ID:2290395 11978346 MMP2 matrix metallopeptidase 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:621316 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:21910062|REF_RGD_ID:9999396 11978346 MMP2 matrix metallopeptidase 2 gene DOID:11830 myopia ISO RGD:730821 D RGD:9068941 20200609 RGD DNA:SNPs:cds, introns:multiple PMID:20484597|REF_RGD_ID:8549731 11978346 MMP2 matrix metallopeptidase 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18585501|REF_RGD_ID:5130889 11978346 MMP2 matrix metallopeptidase 2 gene DOID:12236 primary biliary cholangitis treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:20056896|REF_RGD_ID:8552731 11978346 MMP2 matrix metallopeptidase 2 gene DOID:12662 paracoccidioidomycosis ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:19765107|REF_RGD_ID:8657058 11978346 MMP2 matrix metallopeptidase 2 gene DOID:127 leiomyoma ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:myometrium PMID:17943549|REF_RGD_ID:2290362 11978346 MMP2 matrix metallopeptidase 2 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:730822 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:bronchoalveolar lavage fluid PMID:17254480|REF_RGD_ID:5130726 11978346 MMP2 matrix metallopeptidase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:11034943|REF_RGD_ID:1582586 11978346 MMP2 matrix metallopeptidase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:16037568|REF_RGD_ID:1582576 11978346 MMP2 matrix metallopeptidase 2 gene DOID:13001 carotid stenosis ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:16147977|REF_RGD_ID:1582575 11978346 MMP2 matrix metallopeptidase 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:kidney PMID:19357873|REF_RGD_ID:2325738 11978346 MMP2 matrix metallopeptidase 2 gene DOID:13241 Behcet's disease ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:17949555|REF_RGD_ID:8657044 11978346 MMP2 matrix metallopeptidase 2 gene DOID:13375 temporal arteritis ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased activity:temporal artery PMID:17502363|REF_RGD_ID:8657040 11978346 MMP2 matrix metallopeptidase 2 gene DOID:13580 cholestasis treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:21274875|REF_RGD_ID:8552699 11978346 MMP2 matrix metallopeptidase 2 gene DOID:13619 extrahepatic cholestasis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 11978346 MMP2 matrix metallopeptidase 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta PMID:20621845|REF_RGD_ID:5129489 11978346 MMP2 matrix metallopeptidase 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16159824 11978346 MMP2 matrix metallopeptidase 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:16159824|REF_RGD_ID:1582608 11978346 MMP2 matrix metallopeptidase 2 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 11978346 MMP2 matrix metallopeptidase 2 gene DOID:14323 Marfan syndrome ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18178469 11978346 MMP2 matrix metallopeptidase 2 gene DOID:14323 Marfan syndrome ISO RGD:730821 D RGD:9068941 20200609 RGD associated with thoracic aortic aneurysm;protein:decreased activity:aorta (human) PMID:16820601|REF_RGD_ID:1582351 11978346 MMP2 matrix metallopeptidase 2 gene DOID:14323 Marfan syndrome treatment ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:18178469|REF_RGD_ID:13204796 11978346 MMP2 matrix metallopeptidase 2 gene DOID:1574 alcohol use disorder ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:24966898|REF_RGD_ID:13207311 11978346 MMP2 matrix metallopeptidase 2 gene DOID:1727 retinal vein occlusion ISO RGD:730821 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1306C>T (rs243865) (human) PMID:23791966|REF_RGD_ID:8657048 11978346 MMP2 matrix metallopeptidase 2 gene DOID:1749 squamous cell carcinoma ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa PMID:21624249|REF_RGD_ID:8657057 11978346 MMP2 matrix metallopeptidase 2 gene DOID:1793 pancreatic cancer ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30603057 11978346 MMP2 matrix metallopeptidase 2 gene DOID:1793 pancreatic cancer ISO RGD:730821 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:7635566|REF_RGD_ID:2325766 11978346 MMP2 matrix metallopeptidase 2 gene DOID:1793 pancreatic cancer ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased activity:pancreatic juice PMID:11961486|REF_RGD_ID:2325752 11978346 MMP2 matrix metallopeptidase 2 gene DOID:182 calcinosis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15545515|PMID:21193197 11978346 MMP2 matrix metallopeptidase 2 gene DOID:1936 atherosclerosis ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:16317521|REF_RGD_ID:1582628 11978346 MMP2 matrix metallopeptidase 2 gene DOID:1936 atherosclerosis ameliorates ISO RGD:730822 D RGD:9068941 20230330 RGD PMID:31757932|REF_RGD_ID:242905202 11978346 MMP2 matrix metallopeptidase 2 gene DOID:1936 atherosclerosis treatment ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:20370796|REF_RGD_ID:8657031 11978346 MMP2 matrix metallopeptidase 2 gene DOID:224 transient cerebral ischemia ISO RGD:621316 D RGD:9068941 20200609 RGD protein:increased activity, increased expression:brain PMID:11592852|REF_RGD_ID:8547930 11978346 MMP2 matrix metallopeptidase 2 gene DOID:224 transient cerebral ischemia treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:24828425|REF_RGD_ID:8657086 11978346 MMP2 matrix metallopeptidase 2 gene DOID:2316 brain ischemia ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:15963646|REF_RGD_ID:1582577 11978346 MMP2 matrix metallopeptidase 2 gene DOID:234 colon adenocarcinoma ISO RGD:730821 D RGD:9068941 20220826 RGD protein:increased expression:colon (human) PMID:22419013|REF_RGD_ID:153344572 11978346 MMP2 matrix metallopeptidase 2 gene DOID:2349 arteriosclerosis ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:12526080|REF_RGD_ID:1582580 11978346 MMP2 matrix metallopeptidase 2 gene DOID:255 hemangioma ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:19821096|REF_RGD_ID:8657063 11978346 MMP2 matrix metallopeptidase 2 gene DOID:2615 papilloma treatment ISO RGD:730822 D RGD:9068941 20200609 RGD associated with Skin Neoplasms PMID:20619141|REF_RGD_ID:8657035 11978346 MMP2 matrix metallopeptidase 2 gene DOID:2671 transitional cell carcinoma ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16901349|REF_RGD_ID:2290349 11978346 MMP2 matrix metallopeptidase 2 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:730821 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:multiple PMID:20541540|REF_RGD_ID:8657064 11978346 MMP2 matrix metallopeptidase 2 gene DOID:2876 laryngeal squamous cell carcinoma ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:17786346|REF_RGD_ID:5130203 11978346 MMP2 matrix metallopeptidase 2 gene DOID:289 endometriosis ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:20056200|REF_RGD_ID:2325695 11978346 MMP2 matrix metallopeptidase 2 gene DOID:3068 glioblastoma ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16598420 11978346 MMP2 matrix metallopeptidase 2 gene DOID:3068 glioblastoma severity ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:brain (human) PMID:7616276|REF_RGD_ID:7207145 11978346 MMP2 matrix metallopeptidase 2 gene DOID:3070 high grade glioma treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:19292920|REF_RGD_ID:8657080 11978346 MMP2 matrix metallopeptidase 2 gene DOID:321 tropical spastic paraparesis ISO RGD:730821 D RGD:9068941 20200609 RGD associated with Sjogren's Syndrome PMID:10464559|REF_RGD_ID:8657078 11978346 MMP2 matrix metallopeptidase 2 gene DOID:326 ischemia ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:12842442|REF_RGD_ID:1582562 11978346 MMP2 matrix metallopeptidase 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:730822 D RGD:9068941 20200609 RGD protein:increased expression:skin of body, spinal cord PMID:20441996|REF_RGD_ID:13204793 11978346 MMP2 matrix metallopeptidase 2 gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:serum, cerebrospinal fluid (human) PMID:19796283|REF_RGD_ID:7207054 11978346 MMP2 matrix metallopeptidase 2 gene DOID:3347 osteosarcoma ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25605016 11978346 MMP2 matrix metallopeptidase 2 gene DOID:3407 carotid artery disease ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:16339461|REF_RGD_ID:1582626 11978346 MMP2 matrix metallopeptidase 2 gene DOID:3526 cerebral infarction ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16846501 11978346 MMP2 matrix metallopeptidase 2 gene DOID:3587 pancreatic ductal carcinoma severity ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:17377415|REF_RGD_ID:2325746 11978346 MMP2 matrix metallopeptidase 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:730821 D RGD:9068941 20220526 RGD protein:increased activity: esophagus PMID:24789592|REF_RGD_ID:152600903 11978346 MMP2 matrix metallopeptidase 2 gene DOID:3770 pulmonary fibrosis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21468558 11978346 MMP2 matrix metallopeptidase 2 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:lung PMID:17143501|REF_RGD_ID:5130739 11978346 MMP2 matrix metallopeptidase 2 gene DOID:4079 heart valve disease ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:24093773|REF_RGD_ID:13204818 11978346 MMP2 matrix metallopeptidase 2 gene DOID:4448 macular degeneration no_association ISO RGD:730821 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1306C>T (rs243865) (human) PMID:23536957|REF_RGD_ID:8657041 11978346 MMP2 matrix metallopeptidase 2 gene DOID:4448 macular degeneration susceptibility ISO RGD:730821 D RGD:9068941 20200609 RGD DNA:silent mutation:cds:c.1380G>A (rs2287074) (human) PMID:18359774|REF_RGD_ID:8657039 11978346 MMP2 matrix metallopeptidase 2 gene DOID:4450 renal cell carcinoma ISO RGD:730821 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:18035688|REF_RGD_ID:2290358 11978346 MMP2 matrix metallopeptidase 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17572184|REF_RGD_ID:2290359 11978346 MMP2 matrix metallopeptidase 2 gene DOID:4947 cholangiocarcinoma ISO RGD:621316 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:15213623|REF_RGD_ID:2324667 11978346 MMP2 matrix metallopeptidase 2 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:19629755|REF_RGD_ID:2325769 11978346 MMP2 matrix metallopeptidase 2 gene DOID:5082 liver cirrhosis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15763341|PMID:26396155 11978346 MMP2 matrix metallopeptidase 2 gene DOID:5082 liver cirrhosis treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:23411180|REF_RGD_ID:8657103 11978346 MMP2 matrix metallopeptidase 2 gene DOID:520 aortic disease ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15545515 11978346 MMP2 matrix metallopeptidase 2 gene DOID:5517 stomach carcinoma ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:stomach PMID:20434464|REF_RGD_ID:2325777 11978346 MMP2 matrix metallopeptidase 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:28595731 11978346 MMP2 matrix metallopeptidase 2 gene DOID:5773 oral submucous fibrosis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 11978346 MMP2 matrix metallopeptidase 2 gene DOID:5844 myocardial infarction ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:10773235|PMID:11179039|REF_RGD_ID:1582587|REF_RGD_ID:7207136 11978346 MMP2 matrix metallopeptidase 2 gene DOID:5844 myocardial infarction ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16310260|PMID:24358288 11978346 MMP2 matrix metallopeptidase 2 gene DOID:6000 congestive heart failure ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:10773234|REF_RGD_ID:2290467 11978346 MMP2 matrix metallopeptidase 2 gene DOID:6000 congestive heart failure ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle, plasma PMID:20606426|REF_RGD_ID:8694112 11978346 MMP2 matrix metallopeptidase 2 gene DOID:6000 congestive heart failure severity ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:16169329|REF_RGD_ID:1582574 11978346 MMP2 matrix metallopeptidase 2 gene DOID:6195 conjunctivitis treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:23378729|REF_RGD_ID:8657047 11978346 MMP2 matrix metallopeptidase 2 gene DOID:630 genetic disease ISO RGD:730821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11978346 MMP2 matrix metallopeptidase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20084675 11978346 MMP2 matrix metallopeptidase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16872482 11978346 MMP2 matrix metallopeptidase 2 gene DOID:7693 abdominal aortic aneurysm ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:15238617|PMID:15300177|PMID:20016209|REF_RGD_ID:1302825|REF_RGD_ID:1582579|REF_RGD_ID:2325698 11978346 MMP2 matrix metallopeptidase 2 gene DOID:7693 abdominal aortic aneurysm ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:11457749|REF_RGD_ID:1582585 11978346 MMP2 matrix metallopeptidase 2 gene DOID:7693 abdominal aortic aneurysm no_association ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:16458924|REF_RGD_ID:1582621 11978346 MMP2 matrix metallopeptidase 2 gene DOID:7693 abdominal aortic aneurysm treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:21256058|PMID:24484904|REF_RGD_ID:13207313|REF_RGD_ID:8657104 11978346 MMP2 matrix metallopeptidase 2 gene DOID:783 end stage renal disease ISO RGD:730821 D RGD:9068941 20200609 RGD associated with Hypertension; protein:increased expression:plasma (human) PMID:19886850|REF_RGD_ID:7207051 11978346 MMP2 matrix metallopeptidase 2 gene DOID:820 myocarditis ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:16533694|REF_RGD_ID:1582352 11978346 MMP2 matrix metallopeptidase 2 gene DOID:824 periodontitis ISO RGD:621316 D RGD:9068941 20200609 RGD protein:increased expression: periodontal ligament PMID:16845949|REF_RGD_ID:2325939 11978346 MMP2 matrix metallopeptidase 2 gene DOID:8398 osteoarthritis ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:synovial fluid (human) PMID:15194590|REF_RGD_ID:7207131 11978346 MMP2 matrix metallopeptidase 2 gene DOID:8553 pyoderma gangrenosum ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:21658319|REF_RGD_ID:8657060 11978346 MMP2 matrix metallopeptidase 2 gene DOID:869 cholesteatoma ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:19484988|REF_RGD_ID:8657059 11978346 MMP2 matrix metallopeptidase 2 gene DOID:8725 vascular dementia ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:16385583|REF_RGD_ID:1582624 11978346 MMP2 matrix metallopeptidase 2 gene DOID:8923 skin melanoma ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:12404291|PMID:20966734|REF_RGD_ID:13204786|REF_RGD_ID:8657055 11978346 MMP2 matrix metallopeptidase 2 gene DOID:8923 skin melanoma severity ISO RGD:730821 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:18251742|REF_RGD_ID:8657075 11978346 MMP2 matrix metallopeptidase 2 gene DOID:8947 diabetic retinopathy ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:12714657|REF_RGD_ID:1582582 11978346 MMP2 matrix metallopeptidase 2 gene DOID:8947 diabetic retinopathy ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18552985|REF_RGD_ID:8547849 11978346 MMP2 matrix metallopeptidase 2 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:16619570|REF_RGD_ID:2290402 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9000011 Gallbladder Neoplasms disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:gallbladder PMID:18665467|REF_RGD_ID:2325743 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:24436993|REF_RGD_ID:8657106 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:730821 D RGD:9068941 20200609 RGD associated with Carcinoma, Ductal, Breast PMID:23280016|REF_RGD_ID:8655998 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD associated with Tongue Neoplasms PMID:23107277|REF_RGD_ID:8547824 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9000099 Experimental Colitis treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:23323009|REF_RGD_ID:13207328 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9000113 Pneumococcal Meningitis treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:24419461|REF_RGD_ID:8657111 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:22475348|REF_RGD_ID:8657107 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9000784 Fibrosis ISO RGD:621316 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:20108118|REF_RGD_ID:2325790 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9000918 Disease Progression ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22321834 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9000955 Acute Otitis Media ISO RGD:730822 D RGD:9068941 20210611 RGD mRNA:increased expression:middle ear (mouse) PMID:21889218|REF_RGD_ID:127284853 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:621316 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Animal;protein:increased expression:brain PMID:16158251|REF_RGD_ID:8547884 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16475674|PMID:18398872|PMID:21209944|PMID:22321834|PMID:23707804|PMID:30603057 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730821 D RGD:9068941 20200609 RGD associated with Gallbladder Neoplasms; protein:increased expression:gallbladder PMID:18665467|REF_RGD_ID:2325743 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD associated with pancreatic cancer; protein:increased expression, increased activity:pancreas PMID:12173379|REF_RGD_ID:2325749 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9001004 Chronic Periodontitis ISO RGD:730821 D RGD:9068941 20200609 RGD mRNA:increased expression:gingival tissues PMID:21382035|REF_RGD_ID:6480655 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9001004 Chronic Periodontitis treatment ISO RGD:621316 D RGD:9068941 20200609 RGD associated with Atherosclerosis PMID:24820783|REF_RGD_ID:13207324 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:25314292|REF_RGD_ID:13207327 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:21666238|REF_RGD_ID:8657062 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9001472 Nasal Polyps ISO RGD:730821 D RGD:9068941 20200609 RGD associated with Rhinosinusitis;mRNA:increased expression:nasal cavity mucosa PMID:23064462|REF_RGD_ID:8549735 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9001472 Nasal Polyps treatment ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:21305560|REF_RGD_ID:8656001 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15095483|PMID:25380136 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:19528495|REF_RGD_ID:2325736 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:liver PMID:19539802|REF_RGD_ID:2325734 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30603057 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:621316 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23384615|REF_RGD_ID:13204971 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9002221 Hyperplasia ISO RGD:621316 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19726059|REF_RGD_ID:2325718 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28157488 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:730821 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1306C>T (human) PMID:17367869|REF_RGD_ID:13204803 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17440987 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9002484 Maxillary Diseases ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19070762 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9002514 Neointima ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17964422 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9002514 Neointima treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:23344254|REF_RGD_ID:13207403 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9002522 Embolism ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:15920147|REF_RGD_ID:1582578 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10698078 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:730821 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-735C>T PMID:18424416|REF_RGD_ID:2298519 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:19922364|REF_RGD_ID:2325703 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9002906 Multiple Organ Failure ISO RGD:730822 D RGD:9068941 20200609 RGD protein:increased activity:liver, spleen (mouse) PMID:15259001|REF_RGD_ID:7207133 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9003036 Oral Lichen Planus ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:22554030|REF_RGD_ID:8656000 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9003230 Graft Occlusion, Vascular ISO RGD:730822 D RGD:9068941 20200609 RGD associated with Renal Insufficiency; mRNA:increased expression:arteriovenous fistula (mouse) PMID:20598569|REF_RGD_ID:7207202 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:16619570|REF_RGD_ID:2290402 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22321834 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa: PMID:19786210|REF_RGD_ID:5130872 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased activity:urine (human) PMID:17898039|REF_RGD_ID:7207083 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:730822 D RGD:9068941 20200609 RGD protein:increased activity:brain PMID:15364410|REF_RGD_ID:8547868 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9003871 Venous Thrombosis ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:16171603|PMID:20515599|REF_RGD_ID:1582570|REF_RGD_ID:2325775 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9003936 Cardiomegaly ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:16327176|REF_RGD_ID:1582627 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9004080 Aortic Rupture ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18178469 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9004389 Bone Neoplasms ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16475674 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9004484 Sepsis treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:23479197|REF_RGD_ID:8657110 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:730821 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:18398872|PMID:19770485|PMID:22321834|PMID:23707804|PMID:34278709 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9004610 Acute Lung Injury ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:23040778|REF_RGD_ID:13207316 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:621316 D RGD:9068941 20200609 RGD associated with Hypertension, Renovascular PMID:23073243|REF_RGD_ID:8657108 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9004657 Weight Gain ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25322899 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9005147 Hydatidiform Mole ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:syncytiotrophoblast cell PMID:16884384|REF_RGD_ID:2290363 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9005175 Ulcer ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:16934674|REF_RGD_ID:1582595 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9005175 Ulcer ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:12452868|REF_RGD_ID:1582583 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17607721 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:621316 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland PMID:19725228|REF_RGD_ID:2325823 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28574600 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:23359979|REF_RGD_ID:8657038 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9005372 Inflammation ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24795235 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9005605 Arteriovenous Fistula ISO RGD:621316 D RGD:9068941 20200609 RGD protein:increased expression:ileal vein PMID:17398390|REF_RGD_ID:1642040 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9005605 Arteriovenous Fistula treatment ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:23924957|REF_RGD_ID:13204800 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21963884 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9006081 Osteolysis ISO RGD:730821 D RGD:9068941 20200609 RGD OMIM:277950, Winchester syndrome PMID:16542393|REF_RGD_ID:1601416 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:621316 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary; protein:increased expression:heart PMID:17913382|REF_RGD_ID:5130174 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9006182 Carotid Artery Injuries ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:9327785|REF_RGD_ID:8547910 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9006309 Mandibular Diseases ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19070762 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9006569 Osteolysis Hereditary Multicentric ISO RGD:730821 D RGD:7240710 20180130 OMIM 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9006569 Osteolysis Hereditary Multicentric ISO RGD:730821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders | ClinVar Annotator: match by term: Multicentric osteolysis, nodulosis, and arthropathy | ClinVar Annotator: match by term: Osteolysis, hereditary multicentric PMID:10356396|PMID:11431697|PMID:15691365|PMID:16458924|PMID:16542393|PMID:17059372|PMID:17576681|PMID:19019335|PMID:20617897|PMID:20673868|PMID:21421877|PMID:23313298|PMID:23378725|PMID:25600631|PMID:25704319|PMID:25741868|PMID:2625626|PMID:27182040|PMID:28492532|PMID:6525336|PMID:9536098 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9006832 Puromycin Aminonucleoside Nephrosis ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (rat) PMID:9175058|REF_RGD_ID:4144855 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9007096 Stroke ISO RGD:621316 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:19840223|REF_RGD_ID:2325713 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9007096 Stroke ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:16599837|REF_RGD_ID:1582617 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15763341 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9007480 Hyperoxia ISO RGD:621316 D RGD:9068941 20200609 RGD protein:decreased expression, decreased activity:lung PMID:15128910|REF_RGD_ID:8547972 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9007590 Gouty Arthritis severity ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:14687896|REF_RGD_ID:8547877 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:17009991|REF_RGD_ID:2290360 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:16699069|REF_RGD_ID:1582614 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:23889688|REF_RGD_ID:8657084 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9007871 Malignant Pleural Effusions ISO RGD:730821 D RGD:9068941 20200609 RGD associated with pleurisy; protein:decreased activity:pleura PMID:17611666|REF_RGD_ID:5130711 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9007889 Nephrogenic Fibrosing Dermopathy ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:skin (human) PMID:20708474|REF_RGD_ID:7207047 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9007971 Nose Neoplasms ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16178123 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9008443 Colorectal Neoplasms treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:23149858|REF_RGD_ID:8657112 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9008527 Chlamydophila Infections ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:12526080|REF_RGD_ID:1582580 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9008537 Polypoidal Choroidal Vasculopathy ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:23559867|REF_RGD_ID:8547885 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17400654|PMID:17440987 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18398872|PMID:18507500 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730821 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1306C>T (human) PMID:17851253|REF_RGD_ID:8655999 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17642161|REF_RGD_ID:2290392 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:15538048|REF_RGD_ID:8547818 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:16949931|REF_RGD_ID:2290401 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9111 cutaneous leishmaniasis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21091666 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9111 cutaneous leishmaniasis treatment ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:21091666|REF_RGD_ID:8657030 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9256 colorectal cancer ISO RGD:730821 D RGD:9068941 20220421 RGD human cells in mouse model PMID:30789971|REF_RGD_ID:151893289 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9282 ocular hypertension ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:eye PMID:19575923|REF_RGD_ID:2325732 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:17320450|REF_RGD_ID:7207195 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9477 pulmonary embolism ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:16304337|REF_RGD_ID:1582630 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9675 pulmonary emphysema ISO RGD:621316 D RGD:9068941 20200609 RGD protein:increased activity:lung PMID:19897563|REF_RGD_ID:4892307 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9675 pulmonary emphysema ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25106431 11978346 MMP2 matrix metallopeptidase 2 gene DOID:9743 diabetic neuropathy ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20213226 11978366 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1347509 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung myofibroblast: PMID:22582174|REF_RGD_ID:11341695 11978366 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:0050908 myelodysplastic syndrome ISO RGD:1347509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16105982 11978366 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:0050908 myelodysplastic syndrome ISO RGD:1347509 D RGD:9068941 20200609 RGD PMID:14562111|REF_RGD_ID:11341680 11978366 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma ISO RGD:1347509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15924153 11978366 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1347509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11978366 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1347509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11978366 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:1240 leukemia ISO RGD:1347509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12970779 11978366 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:1793 pancreatic cancer ISO RGD:1347509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20876774 11978366 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:3770 pulmonary fibrosis ISO RGD:731977 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung myofibroblast: PMID:22582174|REF_RGD_ID:11341695 11978366 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:6000 congestive heart failure ISO RGD:1347509 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cardiomyocyte: PMID:11033112|REF_RGD_ID:11341730 11978366 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:630 genetic disease ISO RGD:1347509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11978366 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:8567 Hodgkin's lymphoma ISO RGD:1347509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659339 11978366 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:1347509 D RGD:9068941 20200609 RGD protein:decreased expression:endothelial cell,macrophage: PMID:10623660|REF_RGD_ID:11341688 11978366 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1347509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 11978366 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11978366 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:9006182 Carotid Artery Injuries disease_progression ISO RGD:620847 D RGD:9068941 20200609 RGD PMID:10623660|REF_RGD_ID:11341688 11978366 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1347509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11978366 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:9007480 Hyperoxia ISO RGD:620847 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:19107989|REF_RGD_ID:8662854 11978366 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:620847 D RGD:9068941 20200609 RGD PMID:18466417|REF_RGD_ID:11341714 11978366 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1347509 D RGD:9068941 20200609 RGD PMID:23167276|REF_RGD_ID:11341679 11978397 QSOX2 quiescin sulfhydryl oxidase 2 gene DOID:0050777 Joubert syndrome ISO RGD:1316813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11978397 QSOX2 quiescin sulfhydryl oxidase 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1316813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11978397 QSOX2 quiescin sulfhydryl oxidase 2 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1316813 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11978397 QSOX2 quiescin sulfhydryl oxidase 2 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1316813 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11978397 QSOX2 quiescin sulfhydryl oxidase 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11978397 QSOX2 quiescin sulfhydryl oxidase 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1316813 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11978397 QSOX2 quiescin sulfhydryl oxidase 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316813 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11978397 QSOX2 quiescin sulfhydryl oxidase 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1316813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11978397 QSOX2 quiescin sulfhydryl oxidase 2 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1316813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 11978397 QSOX2 quiescin sulfhydryl oxidase 2 gene DOID:3652 Leigh disease ISO RGD:1316813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11978397 QSOX2 quiescin sulfhydryl oxidase 2 gene DOID:630 genetic disease ISO RGD:1316813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11978397 QSOX2 quiescin sulfhydryl oxidase 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1316813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:0050746 mantle cell lymphoma ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18787224 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:0050850 diabetic encephalopathy treatment ISO RGD:70982 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:26970304|REF_RGD_ID:13792771 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:0050861 colorectal adenocarcinoma ISO RGD:733891 D RGD:9068941 20200609 RGD PMID:21609933|REF_RGD_ID:13210767 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:733891 D RGD:9068941 20211217 RGD DNA:SNP:intron: (rs9879992) (human) PMID:21393552|REF_RGD_ID:150530486 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23516525 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:10652 Alzheimer's disease ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:22982863|REF_RGD_ID:10045670 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:10652 Alzheimer's disease ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17409235|PMID:22944069 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:10652 Alzheimer's disease ISO RGD:733891 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs334558 (human) PMID:19154537|REF_RGD_ID:13782364 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:10652 Alzheimer's disease ISO RGD:733891 D RGD:9068941 20200609 RGD DNA:altered methylation:CpG island: PMID:24101602|REF_RGD_ID:10045668 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:10652 Alzheimer's disease ISO RGD:733892 D RGD:9068941 20200609 RGD PMID:11226152|REF_RGD_ID:1302533 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:10652 Alzheimer's disease treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:27893738|PMID:29257340|REF_RGD_ID:13792736|REF_RGD_ID:13792777 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:10652 Alzheimer's disease treatment ISO RGD:733892 D RGD:9068941 20200609 RGD PMID:22623685|REF_RGD_ID:10401801 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:10652 Alzheimer's disease treatment ISO RGD:733892 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:hippocampus: PMID:22048123|REF_RGD_ID:10045669 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:10763 hypertension ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22982863 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:10763 hypertension treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:22982863|REF_RGD_ID:10045670 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:11054 urinary bladder cancer ISO RGD:733891 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36115647 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:114 heart disease treatment ISO RGD:70982 D RGD:9068941 20200609 RGD associated with hypertension PMID:28440874|REF_RGD_ID:13792734 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:11446 sciatic neuropathy ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:27125978|REF_RGD_ID:13792740 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:14330 Parkinson's disease treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:23094836|REF_RGD_ID:10045553 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:1561 cognitive disorder ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24634145 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:1596 depressive disorder ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20357757|PMID:20534517 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:1596 depressive disorder treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:19815943|REF_RGD_ID:10045564 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:1824 status epilepticus treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:22761705|REF_RGD_ID:10045560 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:219 colon cancer treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:22561258|REF_RGD_ID:10045586 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:2871 endometrial carcinoma severity ISO RGD:733891 D RGD:9068941 20200609 RGD protein:increased expression:endometrium (human) PMID:27050373|REF_RGD_ID:13524565 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:3021 acute kidney failure ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22785175 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:303 substance-related disorder treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:30188517|REF_RGD_ID:13792724 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:3312 bipolar disorder ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20357757 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:3312 bipolar disorder ISO RGD:733891 D RGD:9068941 20200609 RGD PMID:16397405|PMID:17357145|REF_RGD_ID:1641929|REF_RGD_ID:1641931 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:332 amyotrophic lateral sclerosis ISO RGD:733891 D RGD:9068941 20200609 RGD PMID:12675919|REF_RGD_ID:2301741 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:28440874|REF_RGD_ID:13792734 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:5419 schizophrenia ISO RGD:70982 D RGD:9068941 20200609 RGD protein:decreased expression,decreased activity:brain: PMID:12644246|REF_RGD_ID:10045563 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:5419 schizophrenia ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14745448|PMID:31563592 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:5419 schizophrenia ISO RGD:733891 D RGD:9068941 20200609 RGD PMID:16397405|REF_RGD_ID:1641931 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:5419 schizophrenia ISO RGD:733891 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid (human) PMID:15254796|REF_RGD_ID:1358650 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:5419 schizophrenia ISO RGD:733891 D RGD:9068941 20200609 RGD protein:decreased serine phosphorylation:frontal cortex PMID:14745448|REF_RGD_ID:1358369 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:5844 myocardial infarction ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16716347 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:5844 myocardial infarction treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:16565311|REF_RGD_ID:10045368 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:6000 congestive heart failure ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17901358 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:630 genetic disease ISO RGD:733891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:680 tauopathy ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26945731 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:767 muscular atrophy ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18467435 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:8283 peritonitis ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16713974 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:8725 vascular dementia treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:27118553|REF_RGD_ID:13792766 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:90 degenerative disc disease ISO RGD:733891 D RGD:9068941 20200609 RGD PMID:29393545|REF_RGD_ID:13792726 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:9000046 Poisoning ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22975441 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:27026509|REF_RGD_ID:13792767 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:9000998 Brain Injuries ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:22643085|REF_RGD_ID:10045646 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:9000998 Brain Injuries ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24675465 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:70982 D RGD:9068941 20200609 RGD associated with nonalcoholic fatty liver disease PMID:28807209|REF_RGD_ID:13792730 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:26888388|REF_RGD_ID:13792773 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:9002245 Intestinal Neoplasms treatment ISO RGD:733892 D RGD:9068941 20200609 RGD PMID:24670930|REF_RGD_ID:13210772 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:9002304 Prostatic Neoplasms ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16421604|PMID:25246272 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:9002457 Experimental Arthritis ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16713974 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:9002554 Tachycardia treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:28446231|REF_RGD_ID:13792733 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:9002762 Ovarian Neoplasms severity ISO RGD:733891 D RGD:9068941 20200609 RGD protein:increased expression:ovary (human) PMID:22455883|REF_RGD_ID:13441553 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:9002928 Colonic Neoplasms disease_progression ISO RGD:733891 D RGD:9068941 20200609 RGD protein:increased expression:nucleus PMID:23389968|REF_RGD_ID:13210769 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:733891 D RGD:9068941 20200609 RGD PMID:23729362|REF_RGD_ID:13210765 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:9003936 Cardiomegaly ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:19318234|REF_RGD_ID:10045585 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:9003936 Cardiomegaly ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17901358 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:9004484 Sepsis ISO RGD:70982 D RGD:9068941 20200609 RGD protein:decreased phosphorylation,increased activity: : PMID:20926980|REF_RGD_ID:10045370 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:9004673 Hearing Loss, Cisplatin-Induced treatment ISO RGD:733892 D RGD:9068941 20200609 RGD PMID:19666099|REF_RGD_ID:10045579 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:9005100 Aberrant Crypt Foci treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:23554136|REF_RGD_ID:13210771 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:28810530|REF_RGD_ID:13792729 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29626521 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:9007653 Multiple Abnormalities ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22975441 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:9007715 Endometrial Neoplasms treatment ISO RGD:733891 D RGD:9068941 20200609 RGD human cells in a mouse xenograft model PMID:23941783|REF_RGD_ID:13441554 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:9007730 Burns ISO RGD:70982 D RGD:9068941 20200609 RGD protein:increased activity,altered phosphorylation:skeletal muscle: PMID:17686886|REF_RGD_ID:10045647 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:20217242|PMID:26918336|PMID:29978610|REF_RGD_ID:13792725|REF_RGD_ID:13792772|REF_RGD_ID:5509104 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:9008394 Drug-Induced Dyskinesia treatment ISO RGD:70982 D RGD:9068941 20200609 RGD associated with Parkinsonian Disorders PMID:26997328|REF_RGD_ID:13792768 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:9008939 Breast Neoplasms ISO RGD:733891 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35639300 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:9352 type 2 diabetes mellitus ISO RGD:733892 D RGD:9068941 20200609 RGD PMID:20821187|REF_RGD_ID:10045562 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:27164497|REF_RGD_ID:13792739 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:70982 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 11978412 GSK3B glycogen synthase kinase 3 beta gene DOID:9408 acute myocardial infarction treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:26591365|REF_RGD_ID:13792778 11978435 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:0111940 immunodeficiency 42 ISO RGD:732739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11978435 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11978435 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732739 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11978435 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:1540 parathyroid carcinoma ISO RGD:732739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11978435 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:1909 melanoma ISO RGD:732739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983785 11978435 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:289 endometriosis ISO RGD:732739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 11978435 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:4450 renal cell carcinoma treatment ISO RGD:732739 D RGD:9068941 20200609 RGD DNA:missense mutation: :pF446L (human) PMID:27595394|REF_RGD_ID:13503335 11978435 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:5082 liver cirrhosis ISO RGD:732739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22271822 11978435 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:5812 MHC class II deficiency ISO RGD:732739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11978435 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:630 genetic disease ISO RGD:732739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11978435 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:9002170 Experimental Neoplasms ISO RGD:732739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9496914 11978435 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:9003281 Spontaneous Abortions ISO RGD:732739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11978435 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20935161 11978435 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:9008443 Colorectal Neoplasms ISO RGD:732739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21081473 11978435 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11978435 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:9352 type 2 diabetes mellitus ISO RGD:732739 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet PMID:16096055|REF_RGD_ID:2313995 11978435 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:9952 acute lymphoblastic leukemia ISO RGD:732739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22674224 11978470 TICAM1 TIR domain containing adaptor molecule 1 gene DOID:0081013 severe COVID-19 ISO RGD:1603893 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to severe COVID-19 PMID:28492532 11978470 TICAM1 TIR domain containing adaptor molecule 1 gene DOID:10316 pneumoconiosis ISO RGD:1603893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 11978470 TICAM1 TIR domain containing adaptor molecule 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1603893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478430 11978470 TICAM1 TIR domain containing adaptor molecule 1 gene DOID:630 genetic disease ISO RGD:1603893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11978470 TICAM1 TIR domain containing adaptor molecule 1 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:1603893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11978470 TICAM1 TIR domain containing adaptor molecule 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1603893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25780291 11978470 TICAM1 TIR domain containing adaptor molecule 1 gene DOID:9008401 Herpes Simplex Encephalitis 4 ISO RGD:1603893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 4 PMID:22105173|PMID:24033266|PMID:25741868|PMID:26513235|PMID:28492532 11978470 TICAM1 TIR domain containing adaptor molecule 1 gene DOID:9008401 Herpes Simplex Encephalitis 4 susceptibility ISO RGD:1603893 D RGD:7240710 20190502 OMIM 11978478 PODXL podocalyxin like gene DOID:0060368 Parkinson's disease 2 ISO RGD:736843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 PMID:26864383 11978478 PODXL podocalyxin like gene DOID:0060892 late onset Parkinson's disease ISO RGD:736843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:26864383|PMID:28492532 11978478 PODXL podocalyxin like gene DOID:0060903 thrombosis ISO RGD:736843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22016802 11978478 PODXL podocalyxin like gene DOID:3407 carotid artery disease ISO RGD:736843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22016802 11978478 PODXL podocalyxin like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11978478 PODXL podocalyxin like gene DOID:630 genetic disease ISO RGD:736843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11978478 PODXL podocalyxin like gene DOID:9002304 Prostatic Neoplasms ISO RGD:736843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16434482 11978478 PODXL podocalyxin like gene DOID:9008217 Hemorrhage ISO RGD:736843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22016802 11978494 THAP7 THAP domain containing 7 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1317614 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 11978494 THAP7 THAP domain containing 7 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1317614 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 11978494 THAP7 THAP domain containing 7 gene DOID:1059 intellectual disability ISO RGD:1317614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11978494 THAP7 THAP domain containing 7 gene DOID:11198 DiGeorge syndrome ISO RGD:1317614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:31690835|PMID:32581362 11978494 THAP7 THAP domain containing 7 gene DOID:11372 megacolon ISO RGD:1317614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11978494 THAP7 THAP domain containing 7 gene DOID:12583 velocardiofacial syndrome ISO RGD:1317614 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 11978494 THAP7 THAP domain containing 7 gene DOID:12849 autistic disorder ISO RGD:1317614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11978494 THAP7 THAP domain containing 7 gene DOID:1826 epilepsy ISO RGD:1317614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11978494 THAP7 THAP domain containing 7 gene DOID:5419 schizophrenia ISO RGD:1317614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11978494 THAP7 THAP domain containing 7 gene DOID:612 primary immunodeficiency disease ISO RGD:1317614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11978494 THAP7 THAP domain containing 7 gene DOID:630 genetic disease ISO RGD:1317614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11978494 THAP7 THAP domain containing 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11978494 THAP7 THAP domain containing 7 gene DOID:9007661 Dwarfism ISO RGD:1317614 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11978506 HIPK4 homeodomain interacting protein kinase 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1316795 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11978506 HIPK4 homeodomain interacting protein kinase 4 gene DOID:10283 prostate cancer ISO RGD:1316795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11978506 HIPK4 homeodomain interacting protein kinase 4 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1316795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11978506 HIPK4 homeodomain interacting protein kinase 4 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1316795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11978506 HIPK4 homeodomain interacting protein kinase 4 gene DOID:2340 craniosynostosis ISO RGD:1316795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11978506 HIPK4 homeodomain interacting protein kinase 4 gene DOID:630 genetic disease ISO RGD:1316795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11978506 HIPK4 homeodomain interacting protein kinase 4 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1316795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11978506 HIPK4 homeodomain interacting protein kinase 4 gene DOID:9269 maple syrup urine disease ISO RGD:1316795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11978506 HIPK4 homeodomain interacting protein kinase 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1316795 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11978513 SLC28A2 solute carrier family 28 member 2 gene DOID:0050712 AGAT deficiency ISO RGD:732572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 11978513 SLC28A2 solute carrier family 28 member 2 gene DOID:2717 Bloom syndrome ISO RGD:732572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11978513 SLC28A2 solute carrier family 28 member 2 gene DOID:630 genetic disease ISO RGD:732572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11978513 SLC28A2 solute carrier family 28 member 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61840 D RGD:9068941 20200609 RGD PMID:16014043|REF_RGD_ID:2317455 11978513 SLC28A2 solute carrier family 28 member 2 gene DOID:9256 colorectal cancer ISO RGD:732572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11978535 MCM4 minichromosome maintenance complex component 4 gene DOID:0111961 immunodeficiency 26 ISO RGD:735578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency PMID:28492532 11978535 MCM4 minichromosome maintenance complex component 4 gene DOID:0111967 immunodeficiency 54 ISO RGD:735578 D RGD:7240710 20180130 OMIM 11978535 MCM4 minichromosome maintenance complex component 4 gene DOID:0111967 immunodeficiency 54 ISO RGD:735578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency PMID:16199547|PMID:16532402|PMID:17576681|PMID:22354167|PMID:22354170|PMID:22499342|PMID:24033266|PMID:25741868|PMID:26633542|PMID:28492532|PMID:9536098 11978535 MCM4 minichromosome maintenance complex component 4 gene DOID:10907 microcephaly ISO RGD:735578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11978535 MCM4 minichromosome maintenance complex component 4 gene DOID:630 genetic disease ISO RGD:735578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11978555 CHD9 chromodomain helicase DNA binding protein 9 gene DOID:630 genetic disease ISO RGD:1315612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11978596 TTC7A tetratricopeptide repeat domain 7A gene DOID:12177 common variable immunodeficiency ISO RGD:1314700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:17576681|PMID:25741868|PMID:28492532|PMID:32499645|PMID:9536098 11978596 TTC7A tetratricopeptide repeat domain 7A gene DOID:14671 multiple intestinal atresia ISO RGD:1314700 D RGD:7240710 20180130 OMIM 11978596 TTC7A tetratricopeptide repeat domain 7A gene DOID:14671 multiple intestinal atresia ISO RGD:1314700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome | ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome 1 | ClinVar Annotator: match by term: Multiple gastrointestinal atresias PMID:16199547|PMID:17576681|PMID:23423984|PMID:23830146|PMID:24033266|PMID:24266605|PMID:24292712|PMID:24417819|PMID:24448499|PMID:24931897|PMID:25174867|PMID:25326635|PMID:25534311|PMID:25587526|PMID:25741868|PMID:26193622|PMID:26938784|PMID:27418642|PMID:28492532|PMID:28808844|PMID:28930861|PMID:28936210|PMID:29174094|PMID:30443250|PMID:30553809|PMID:31787977|PMID:31814065|PMID:31980526|PMID:32499645|PMID:32531373|PMID:35627206|PMID:9536098 11978596 TTC7A tetratricopeptide repeat domain 7A gene DOID:3883 Lynch syndrome ISO RGD:1314700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11978596 TTC7A tetratricopeptide repeat domain 7A gene DOID:627 severe combined immunodeficiency ISO RGD:1314700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 11978596 TTC7A tetratricopeptide repeat domain 7A gene DOID:630 genetic disease ISO RGD:1314700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11978596 TTC7A tetratricopeptide repeat domain 7A gene DOID:8893 psoriasis ISO RGD:1314701 D RGD:9068941 20220825 MouseDO OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106 11978626 KIAA0930 KIAA0930 ortholog gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1312287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11978626 KIAA0930 KIAA0930 ortholog gene DOID:0080600 COVID-19 ISO RGD:1312287 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11978626 KIAA0930 KIAA0930 ortholog gene DOID:1059 intellectual disability ISO RGD:1312287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11978626 KIAA0930 KIAA0930 ortholog gene DOID:630 genetic disease ISO RGD:1312287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11978643 HIKESHI heat shock protein nuclear import factor hikeshi gene DOID:0060795 hypomyelinating leukodystrophy 13 ISO RGD:1604822 D RGD:7240710 20190315 OMIM 11978643 HIKESHI heat shock protein nuclear import factor hikeshi gene DOID:0060795 hypomyelinating leukodystrophy 13 ISO RGD:1604822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 13 PMID:25741868|PMID:26545878|PMID:28492532|PMID:31912665 11978643 HIKESHI heat shock protein nuclear import factor hikeshi gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1604822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 11978643 HIKESHI heat shock protein nuclear import factor hikeshi gene DOID:1059 intellectual disability ISO RGD:1604822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11978643 HIKESHI heat shock protein nuclear import factor hikeshi gene DOID:1909 melanoma ISO RGD:1604822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11978643 HIKESHI heat shock protein nuclear import factor hikeshi gene DOID:630 genetic disease ISO RGD:1604822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25760597|PMID:28492532 11978643 HIKESHI heat shock protein nuclear import factor hikeshi gene DOID:9000217 Stomach Neoplasms ISO RGD:1604822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11978643 HIKESHI heat shock protein nuclear import factor hikeshi gene DOID:9000918 Disease Progression ISO RGD:1604822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11978658 THEMIS2 thymocyte selection associated family member 2 gene DOID:630 genetic disease ISO RGD:1353481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11978658 THEMIS2 thymocyte selection associated family member 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1353481 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19942713 11978673 CAMK2D calcium/calmodulin dependent protein kinase II delta gene DOID:0060224 atrial fibrillation ISO RGD:736174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11978673 CAMK2D calcium/calmodulin dependent protein kinase II delta gene DOID:11612 polycystic ovary syndrome ISO RGD:736174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11978673 CAMK2D calcium/calmodulin dependent protein kinase II delta gene DOID:12271 aniridia ISO RGD:736174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 11978673 CAMK2D calcium/calmodulin dependent protein kinase II delta gene DOID:1826 epilepsy ISO RGD:2263 D RGD:9068941 20200609 RGD DNA:SNP:intron:g.24024428G>T (rat) PMID:20638246|REF_RGD_ID:6907065 11978673 CAMK2D calcium/calmodulin dependent protein kinase II delta gene DOID:630 genetic disease ISO RGD:736174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11978673 CAMK2D calcium/calmodulin dependent protein kinase II delta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11978673 CAMK2D calcium/calmodulin dependent protein kinase II delta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736174 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 11978673 CAMK2D calcium/calmodulin dependent protein kinase II delta gene DOID:9007102 Myocardial Ischemia ISO RGD:736174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11978726 L3MBTL2 L3MBTL histone methyl-lysine binding protein 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1318418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11978726 L3MBTL2 L3MBTL histone methyl-lysine binding protein 2 gene DOID:0050902 medulloblastoma ISO RGD:1318418 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 11978726 L3MBTL2 L3MBTL histone methyl-lysine binding protein 2 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1318418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 11978726 L3MBTL2 L3MBTL histone methyl-lysine binding protein 2 gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:1318418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 PMID:28492532 11978726 L3MBTL2 L3MBTL histone methyl-lysine binding protein 2 gene DOID:630 genetic disease ISO RGD:1318418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11978754 MYO6 myosin VI gene DOID:0050563 nonsyndromic deafness ISO RGD:1352294 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386|PMID:33279834 11978754 MYO6 myosin VI gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:1352294 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA PMID:25741868 11978754 MYO6 myosin VI gene DOID:0080600 COVID-19 ISO RGD:1352294 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11978754 MYO6 myosin VI gene DOID:0110495 autosomal recessive nonsyndromic deafness 37 ISO RGD:1352294 D RGD:7240710 20180130 OMIM 11978754 MYO6 myosin VI gene DOID:0110495 autosomal recessive nonsyndromic deafness 37 ISO RGD:1352294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 37 PMID:11167014|PMID:12687499|PMID:17576681|PMID:18212818|PMID:18348273|PMID:23767834|PMID:24033266|PMID:25741868|PMID:25741877|PMID:25999546|PMID:26445815|PMID:26467025|PMID:26969326|PMID:28492532|PMID:30311386|PMID:30582396|PMID:31589614|PMID:32143290|PMID:32747562|PMID:33724713|PMID:9536098 11978754 MYO6 myosin VI gene DOID:0110552 autosomal dominant nonsyndromic deafness 22 ISO RGD:1352294 D RGD:7240710 20180130 OMIM 11978754 MYO6 myosin VI gene DOID:0110552 autosomal dominant nonsyndromic deafness 22 ISO RGD:1352294 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22 | ClinVar Annotator: match by term: DFNA 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 22 PMID:11167014|PMID:11468689|PMID:12687499|PMID:15123708|PMID:16199547|PMID:17576681|PMID:18212818|PMID:18348273|PMID:23767834|PMID:24033266|PMID:25741868|PMID:25741877|PMID:25999546|PMID:26445815|PMID:26467025|PMID:26969326|PMID:28492532|PMID:30311386|PMID:30582396|PMID:31589614|PMID:32143290|PMID:32747562|PMID:33724713|PMID:35802133|PMID:36633841|PMID:9536098 11978754 MYO6 myosin VI gene DOID:10003 sensorineural hearing loss ISO RGD:1352294 D RGD:9068941 20200609 RGD DFNA22, OMIM:606346, DNA:point mutation:exon:C442Y PMID:11468689|REF_RGD_ID:1600556 11978754 MYO6 myosin VI gene DOID:10283 prostate cancer ISO RGD:1352294 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland epithelium, perinuclear region of cytoplasm PMID:18543251|REF_RGD_ID:2314956 11978754 MYO6 myosin VI gene DOID:10763 hypertension ISO RGD:1560646 D RGD:9068941 20200609 RGD protein:altered localization:renal proximal tubule, microvillus PMID:16107581|REF_RGD_ID:2314963 11978754 MYO6 myosin VI gene DOID:12336 male infertility ISO RGD:1352294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:9536098 11978754 MYO6 myosin VI gene DOID:2394 ovarian cancer disease_progression ISO RGD:1352294 D RGD:9068941 20200609 RGD PMID:15146066|REF_RGD_ID:2314958 11978754 MYO6 myosin VI gene DOID:303 substance-related disorder ISO RGD:1352294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11978754 MYO6 myosin VI gene DOID:4990 essential tremor ISO RGD:1352294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:25741868|PMID:33279834 11978754 MYO6 myosin VI gene DOID:630 genetic disease ISO RGD:1352294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18212818|PMID:23967202|PMID:24033266|PMID:25741868|PMID:25999546|PMID:28492532 11978754 MYO6 myosin VI gene DOID:9004538 Hearing Loss ISO RGD:1352294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:9536098 11978754 MYO6 myosin VI gene DOID:9004538 Hearing Loss ISO RGD:1352294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:12687499|PMID:17576681|PMID:18348273|PMID:21078986|PMID:23767834|PMID:24033266|PMID:25741868|PMID:25999546|PMID:28000701|PMID:28492532|PMID:30311386|PMID:30582396|PMID:32143290|PMID:9536098 11978754 MYO6 myosin VI gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1352294 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:25741868|PMID:28492532 11978754 MYO6 myosin VI gene DOID:9008768 Sensorineural Deafness with Hypertrophic Cardiomyopathy ISO RGD:1352294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural deafness with hypertrophic cardiomyopathy PMID:15060111|PMID:18212818|PMID:18348273|PMID:24033266|PMID:28492532 11978806 ELMO3 engulfment and cell motility 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1312348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11978806 ELMO3 engulfment and cell motility 3 gene DOID:630 genetic disease ISO RGD:1312348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11978851 PDIA5 protein disulfide isomerase family A member 5 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1605694 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 11978851 PDIA5 protein disulfide isomerase family A member 5 gene DOID:0080600 COVID-19 ISO RGD:1605694 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11978851 PDIA5 protein disulfide isomerase family A member 5 gene DOID:630 genetic disease ISO RGD:1605694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11978851 PDIA5 protein disulfide isomerase family A member 5 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1605694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 11978851 PDIA5 protein disulfide isomerase family A member 5 gene DOID:9270 alkaptonuria ISO RGD:1605694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11978872 SERINC4 serine incorporator 4 gene DOID:2717 Bloom syndrome ISO RGD:1606056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11978872 SERINC4 serine incorporator 4 gene DOID:9256 colorectal cancer ISO RGD:1606056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11978889 CSRNP1 cysteine and serine rich nuclear protein 1 gene DOID:0080600 COVID-19 ISO RGD:1314362 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11978889 CSRNP1 cysteine and serine rich nuclear protein 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314362 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16243910 11978889 CSRNP1 cysteine and serine rich nuclear protein 1 gene DOID:630 genetic disease ISO RGD:1314362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11978889 CSRNP1 cysteine and serine rich nuclear protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1314362 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11978904 WLS Wnt ligand secretion mediator gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1605334 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:25741868 11978904 WLS Wnt ligand secretion mediator gene DOID:1059 intellectual disability ISO RGD:1605334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11978904 WLS Wnt ligand secretion mediator gene DOID:630 genetic disease ISO RGD:1605334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11978904 WLS Wnt ligand secretion mediator gene DOID:9001208 ZAKI SYNDROME ISO RGD:1605334 D RGD:7240710 20220223 OMIM 11978904 WLS Wnt ligand secretion mediator gene DOID:9001208 ZAKI SYNDROME ISO RGD:1605334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Zaki syndrome PMID:25741868|PMID:34587386 11978904 WLS Wnt ligand secretion mediator gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11978925 DOCK5 dedicator of cytokinesis 5 gene DOID:0110165 Charcot-Marie-Tooth disease type 2E ISO RGD:1315737 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E PMID:19158810|PMID:20039262|PMID:28492532 11978925 DOCK5 dedicator of cytokinesis 5 gene DOID:10283 prostate cancer ISO RGD:1315737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11978925 DOCK5 dedicator of cytokinesis 5 gene DOID:630 genetic disease ISO RGD:1315737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11978983 LOC100991599 creatine kinase U-type, mitochondrial gene DOID:0110471 autosomal recessive nonsyndromic deafness 16 ISO RGD:1603442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 16 PMID:25741868 11978983 LOC100991599 creatine kinase U-type, mitochondrial gene DOID:2717 Bloom syndrome ISO RGD:1603442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11978983 LOC100991599 creatine kinase U-type, mitochondrial gene DOID:630 genetic disease ISO RGD:1603442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11978983 LOC100991599 creatine kinase U-type, mitochondrial gene DOID:9002477 Sensorineural Deafness and Male Infertility ISO RGD:1603442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness-infertility syndrome PMID:25741868 11978983 LOC100991599 creatine kinase U-type, mitochondrial gene DOID:9004538 Hearing Loss ISO RGD:1603442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment 11978983 LOC100991599 creatine kinase U-type, mitochondrial gene DOID:9256 colorectal cancer ISO RGD:1603442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11978987 CAP2 cyclase associated actin cytoskeleton regulatory protein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:733379 D RGD:9068941 20220825 MouseDO 11978987 CAP2 cyclase associated actin cytoskeleton regulatory protein 2 gene DOID:630 genetic disease ISO RGD:733378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11978987 CAP2 cyclase associated actin cytoskeleton regulatory protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:733378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11979005 HRCT1 histidine rich carboxyl terminus 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:2301113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11979005 HRCT1 histidine rich carboxyl terminus 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:2301113 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11979005 HRCT1 histidine rich carboxyl terminus 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:2301113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11979005 HRCT1 histidine rich carboxyl terminus 1 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:2301113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11979005 HRCT1 histidine rich carboxyl terminus 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:2301113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11979005 HRCT1 histidine rich carboxyl terminus 1 gene DOID:630 genetic disease ISO RGD:2301113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11979005 HRCT1 histidine rich carboxyl terminus 1 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:2301113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11979005 HRCT1 histidine rich carboxyl terminus 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:2301113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11979005 HRCT1 histidine rich carboxyl terminus 1 gene DOID:9870 galactosemia ISO RGD:2301113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11979010 ZNF630 zinc finger protein 630 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11979010 ZNF630 zinc finger protein 630 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1352524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 11979010 ZNF630 zinc finger protein 630 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1352524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11979010 ZNF630 zinc finger protein 630 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1352524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11979010 ZNF630 zinc finger protein 630 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1352524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11979010 ZNF630 zinc finger protein 630 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1352524 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 11979010 ZNF630 zinc finger protein 630 gene DOID:12849 autistic disorder ISO RGD:1352524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11979010 ZNF630 zinc finger protein 630 gene DOID:630 genetic disease ISO RGD:1352524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11979034 DDHD1 DDHD domain containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1318429 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31209396 11979034 DDHD1 DDHD domain containing 1 gene DOID:0110779 hereditary spastic paraplegia 28 ISO RGD:1318429 D RGD:7240710 20180130 OMIM 11979034 DDHD1 DDHD domain containing 1 gene DOID:0110779 hereditary spastic paraplegia 28 ISO RGD:1318429 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 28 PMID:15786464|PMID:17576681|PMID:23176821|PMID:24989667|PMID:25741868|PMID:26944165|PMID:27216551|PMID:27999540|PMID:28492532|PMID:28818478|PMID:9536098 11979034 DDHD1 DDHD domain containing 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1318429 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:23176821|PMID:24989667|PMID:25741868|PMID:26944165|PMID:27216551|PMID:28492532 11979034 DDHD1 DDHD domain containing 1 gene DOID:630 genetic disease ISO RGD:1318429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11979034 DDHD1 DDHD domain containing 1 gene DOID:9007428 Muscle Spasticity ISO RGD:1318429 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spasticity 11979061 C1H1orf131 chromosome 1 C1orf131 homolog gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1605298 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 11979061 C1H1orf131 chromosome 1 C1orf131 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1605298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11979061 C1H1orf131 chromosome 1 C1orf131 homolog gene DOID:630 genetic disease ISO RGD:1605298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11979061 C1H1orf131 chromosome 1 C1orf131 homolog gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1605298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 11979061 C1H1orf131 chromosome 1 C1orf131 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11979074 WDR47 WD repeat domain 47 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1343602 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11979074 WDR47 WD repeat domain 47 gene DOID:12849 autistic disorder ISO RGD:1343602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:21681106|PMID:30208311 11979074 WDR47 WD repeat domain 47 gene DOID:630 genetic disease ISO RGD:1343602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11979105 CKLF chemokine like factor gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1606001 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11979105 CKLF chemokine like factor gene DOID:0110255 cataract 5 multiple types ISO RGD:1606001 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 11979105 CKLF chemokine like factor gene DOID:630 genetic disease ISO RGD:1606001 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11979105 CKLF chemokine like factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606001 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11979138 ZNF222 zinc finger protein 222 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1345369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 11979138 ZNF222 zinc finger protein 222 gene DOID:5419 schizophrenia ISO RGD:1345369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11979138 ZNF222 zinc finger protein 222 gene DOID:630 genetic disease ISO RGD:1345369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11979157 ZNF366 zinc finger protein 366 gene DOID:0080600 COVID-19 ISO RGD:1314635 D RGD:9068941 20220523 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11979157 ZNF366 zinc finger protein 366 gene DOID:11198 DiGeorge syndrome ISO RGD:1616531 D RGD:9068941 20220825 MouseDO OMIM:188400 11979157 ZNF366 zinc finger protein 366 gene DOID:303 substance-related disorder ISO RGD:1314635 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11979157 ZNF366 zinc finger protein 366 gene DOID:630 genetic disease ISO RGD:1314635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11979157 ZNF366 zinc finger protein 366 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11979157 ZNF366 zinc finger protein 366 gene DOID:9008939 Breast Neoplasms ISO RGD:1314635 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008677 11979157 ZNF366 zinc finger protein 366 gene DOID:9008939 Breast Neoplasms ISO RGD:1616531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21122099 11979167 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:0060240 UV-sensitive syndrome ISO RGD:1601889 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11979167 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1601889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:19384974|PMID:20571988|PMID:21924235|PMID:22099533|PMID:25741868|PMID:27597947|PMID:28492532 11979167 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:0080907 Cockayne syndrome A ISO RGD:1601889 D RGD:7240710 20180130 OMIM 11979167 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:0080907 Cockayne syndrome A ISO RGD:1601889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cockayne syndrome type 1 | ClinVar Annotator: match by term: Cockayne syndrome type 1 PMID:14661080|PMID:15744458|PMID:16199547|PMID:16865293|PMID:16949367|PMID:17576681|PMID:18414213|PMID:18695064|PMID:19309286|PMID:19329487|PMID:19384974|PMID:19894250|PMID:20571988|PMID:21108394|PMID:21681106|PMID:21924235|PMID:22099533|PMID:22829088|PMID:24033266|PMID:25333069|PMID:25525159|PMID:25741868|PMID:26173784|PMID:26616585|PMID:27004399|PMID:27597947|PMID:28492532|PMID:29057985|PMID:29422660|PMID:29531219|PMID:29572252|PMID:29742419|PMID:30182135|PMID:30200888|PMID:30871974|PMID:31319225|PMID:32048102|PMID:32404165|PMID:32557569|PMID:33199595|PMID:7664335|PMID:9338586|PMID:9536098 11979167 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1601889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:19384974|PMID:20571988|PMID:21924235|PMID:22099533|PMID:25741868|PMID:27597947|PMID:28492532 11979167 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:0112075 nuclear type mitochondrial complex I deficiency 10 ISO RGD:1601889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 PMID:19384974|PMID:20571988|PMID:21924235|PMID:22099533|PMID:25741868|PMID:27597947|PMID:28492532 11979167 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:10003 sensorineural hearing loss ISO RGD:1553774 D RGD:9068941 20200609 RGD associated with Cockayne Syndrome PMID:25762674|REF_RGD_ID:11567237 11979167 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:2962 Cockayne syndrome ISO RGD:1601889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cockayne syndrome | ClinVar Annotator: match by term: Progeroid nanism PMID:14661080|PMID:15744458|PMID:19309286|PMID:19329487|PMID:19894250|PMID:24033266|PMID:25333069|PMID:25741868|PMID:28492532|PMID:29572252|PMID:30182135|PMID:30871974|PMID:32404165 11979167 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:3652 Leigh disease ISO RGD:1601889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:25741868|PMID:28492532 11979167 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:5679 retinal disease ISO RGD:1553774 D RGD:9068941 20200609 RGD PMID:17145777|REF_RGD_ID:10401109 11979167 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1601889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 11979167 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:630 genetic disease ISO RGD:1601889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11814058|PMID:16865293|PMID:19894250|PMID:25741868|PMID:28492532 11979167 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:9000316 UV-Sensitive Syndrome 2 ISO RGD:1601889 D RGD:7240710 20180130 OMIM 11979167 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:9000316 UV-Sensitive Syndrome 2 ISO RGD:1601889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: UV-sensitive syndrome 2 PMID:18414213|PMID:19329487|PMID:25741868|PMID:28492532 11979167 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1601889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:28492532 11979167 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11979167 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:9006534 Nervous System Malformations ISO RGD:1601889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16199547|PMID:19894250|PMID:25741868|PMID:28492532|PMID:29572252 11979195 LDLR low density lipoprotein receptor gene DOID:0050990 episodic ataxia type 2 ISO RGD:735594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11979195 LDLR low density lipoprotein receptor gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:735594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 11979195 LDLR low density lipoprotein receptor gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:735594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20938947|PMID:23127599|PMID:23285030 11979195 LDLR low density lipoprotein receptor gene DOID:0080600 COVID-19 ISO RGD:735594 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11979195 LDLR low density lipoprotein receptor gene DOID:0080685 aortic dissection ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic dissection PMID:10782930|PMID:10978268|PMID:12837857|PMID:1301956|PMID:16183066|PMID:16250003|PMID:17094996|PMID:17765246|PMID:18677035|PMID:19318025|PMID:20506408|PMID:2088165|PMID:21310417|PMID:21475731|PMID:21722902|PMID:22390909|PMID:22698793|PMID:2318961|PMID:23375686|PMID:24033266|PMID:25741868|PMID:27765764|PMID:28492532|PMID:29261184|PMID:29399563|PMID:31345425|PMID:3263645|PMID:8882879|PMID:9157944|PMID:9484998 11979195 LDLR low density lipoprotein receptor gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:735594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11979195 LDLR low density lipoprotein receptor gene DOID:0111254 glutaric acidemia I ISO RGD:735594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11979195 LDLR low density lipoprotein receptor gene DOID:10230 aortic atherosclerosis ISO RGD:2998 D RGD:9068941 20211112 RGD PMID:29459263|REF_RGD_ID:13703129 11979195 LDLR low density lipoprotein receptor gene DOID:10652 Alzheimer's disease ISO RGD:10864 D RGD:9068941 20200609 RGD PMID:21755005|REF_RGD_ID:5490231 11979195 LDLR low density lipoprotein receptor gene DOID:10652 Alzheimer's disease ISO RGD:735594 D RGD:9068941 20200609 RGD DNA:SNPs: :rs5925, rs2738444, rs11669576 (human) PMID:17239995|REF_RGD_ID:5490239 11979195 LDLR low density lipoprotein receptor gene DOID:10652 Alzheimer's disease ISO RGD:735594 D RGD:9068941 20200609 RGD DNA:SNPs:exon (human) PMID:15689450|REF_RGD_ID:5490242 11979195 LDLR low density lipoprotein receptor gene DOID:10652 Alzheimer's disease ISO RGD:735594 D RGD:9068941 20200609 RGD DNA:SNPs:exon:rs5925, rs5927, rs5930 (human) PMID:15585340|REF_RGD_ID:5490244 11979195 LDLR low density lipoprotein receptor gene DOID:10652 Alzheimer's disease no_association ISO RGD:735594 D RGD:9068941 20200609 RGD DNA:SNPs:exon:rs5925, rs5927, rs5930 (human) PMID:16378661|REF_RGD_ID:5490243 11979195 LDLR low density lipoprotein receptor gene DOID:10652 Alzheimer's disease no_association ISO RGD:735594 D RGD:9068941 20200609 RGD DNA:SNPs:exon:rs5925, rs5930, rs11669576 (human) PMID:16741934|REF_RGD_ID:5490241 11979195 LDLR low density lipoprotein receptor gene DOID:11100 Q fever ISO RGD:735594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16469060 11979195 LDLR low density lipoprotein receptor gene DOID:1168 familial hyperlipidemia ISO RGD:2998 D RGD:9068941 20211112 RGD PMID:29459263|REF_RGD_ID:13703129 11979195 LDLR low density lipoprotein receptor gene DOID:1168 familial hyperlipidemia ISO RGD:735594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11947894|PMID:25619500 11979195 LDLR low density lipoprotein receptor gene DOID:12783 migraine without aura ISO RGD:735594 D RGD:9068941 20200609 RGD DNA:repeat:exon (human) PMID:12873747|REF_RGD_ID:5490245 11979195 LDLR low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:7240710 20180130 OMIM 11979195 LDLR low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20809525|PMID:20828696|PMID:2088165|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21418584|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22220933|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22544571|PMID:22683370|PMID:22691586|PMID:22698793|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23669246|PMID:23680767|PMID:23815734|PMID:23820649|PMID:23833242|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24671153|PMID:24722143|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26361156|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27206935|PMID:27247956|PMID:2726768|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578127|PMID:27578128|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:2831865|PMID:28349240|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:2920733|PMID:29233637|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29874871|PMID:2988123|PMID:29974534|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527 11979195 LDLR low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270359|PMID:30293936|PMID:30312929|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31345425|PMID:31371270|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31617323|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31947532|PMID:31980526|PMID:3198114|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32113782|PMID:32143996|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32466883|PMID:32489792|PMID:32522009|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32706999|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33079599|PMID:33087929|PMID:33111339|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33418990|PMID:3343347|PMID:33508743|PMID:33740630|PMID:3391282|PMID:33955087|PMID:33994402|PMID:34037665|PMID:34249980|PMID:3425583|PMID:34297352|PMID:34456200|PMID:3472763|PMID:3475071|PMID:34906454|PMID:34998859|PMID:3549308|PMID:35535697|PMID:3572996|PMID:3627182|PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6324732|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426 11979195 LDLR low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208489|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10412552|PMID:10422802|PMID:10422803|PMID:10422804|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10611909|PMID:10634824|PMID:10657581|PMID:10660340|PMID:10668928|PMID:10704205|PMID:1073562|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10926901|PMID:10933493|PMID:10947889|PMID:10978268|PMID:10980548|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11194025|PMID:11194027|PMID:11196104|PMID:11237541|PMID:11257257|PMID:11295843|PMID:11298688|PMID:11298777|PMID:11310584|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11389828|PMID:1139254|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11675977|PMID:11737238|PMID:11754108|PMID:11792717|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12112655|PMID:12113284|PMID:12124988|PMID:12205127|PMID:12227864|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12485531|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12673584|PMID:12705331|PMID:12730724|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1315570|PMID:1319734|PMID:1348044|PMID:1352322|PMID:1362925|PMID:1372927|PMID:14209286|PMID:1438159|PMID:1446662|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14616764|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:14756670|PMID:14767901|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15135252|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:15477777|PMID:15494314|PMID:15497035|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15633194|PMID:15637307|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15842735|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:1609792|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16211558|PMID:16250003|PMID:16286607|PMID:16314194|PMID:16343504|PMID:1634609|PMID:16389549|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16530458|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16740646|PMID:1677927|PMID:16792510|PMID:16796766|PMID:16801348|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:1727071|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17399720|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17625505|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:1863993|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412 11979195 LDLR low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:19520913|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22683370|PMID:22691586|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23536757|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218 11979195 LDLR low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30332439|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31371270|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34906454|PMID:3494949|PMID:34998859|PMID:35076666|PMID:35339733|PMID:35460704|PMID:3549308|PMID:35535697|PMID:3572996|PMID:35929461|PMID:3627182|PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972 11979195 LDLR low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426 11979195 LDLR low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208489|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10412552|PMID:10422802|PMID:10422803|PMID:10422804|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10611909|PMID:10634824|PMID:10657581|PMID:10660340|PMID:10668928|PMID:10704205|PMID:1073562|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10926901|PMID:10933493|PMID:10947889|PMID:10978268|PMID:10980548|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11194027|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11298688|PMID:11298777|PMID:11310584|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11389828|PMID:1139254|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11675977|PMID:11737238|PMID:11754108|PMID:11792717|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:12227864|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12485531|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12673584|PMID:12705331|PMID:12730724|PMID:12820708|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1315570|PMID:1319734|PMID:1348044|PMID:1352322|PMID:1362925|PMID:1372927|PMID:14209286|PMID:1438159|PMID:1446662|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14616764|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:14756670|PMID:14767901|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15135252|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:15477777|PMID:15494314|PMID:15497035|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15633194|PMID:15637307|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15842735|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:1609792|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16211558|PMID:16250003|PMID:16286607|PMID:16314194|PMID:16343504|PMID:1634609|PMID:16389549|PMID:16406299|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16530458|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:1677927|PMID:16792510|PMID:16796766|PMID:16801348|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:1727071|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17399720|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17625505|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:1863993|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18701038|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025 11979195 LDLR low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:34970301|PMID:34998859|PMID:35076666|PMID:35339733|PMID:35460704|PMID:3549308|PMID:35535697|PMID:35568682|PMID:3572996|PMID:35929461|PMID:3627182|PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6091915 11979195 LDLR low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426 11979195 LDLR low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23536757|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104 11979195 LDLR low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32165824|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35076666|PMID:35339733|PMID:35460704|PMID:3549308|PMID:35535697|PMID:35568682|PMID:3572996|PMID:35929461|PMID:3627182|PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990 11979195 LDLR low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:4750422|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426 11979195 LDLR low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25786579|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104 11979195 LDLR low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35076666|PMID:35339733|PMID:35460704|PMID:3549308|PMID:35535697|PMID:35568682|PMID:35631530|PMID:3572996|PMID:35929461|PMID:36226792|PMID:3627182|PMID:36325061|PMID:36499307 11979195 LDLR low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426 11979195 LDLR low density lipoprotein receptor gene DOID:14692 Smith-Lemli-Opitz syndrome ISO RGD:735594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome PMID:10208499|PMID:12730724|PMID:15701167|PMID:17445538|PMID:17694954|PMID:25741868|PMID:28492532 11979195 LDLR low density lipoprotein receptor gene DOID:1883 hepatitis C disease_progression ISO RGD:735594 D RGD:9068941 20200609 RGD DNA:polymorphisms:exon, 3' utr (human) PMID:12209363|REF_RGD_ID:5490246 11979195 LDLR low density lipoprotein receptor gene DOID:1936 atherosclerosis ISO RGD:10864 D RGD:9068941 20200609 RGD PMID:9614153|REF_RGD_ID:5490255 11979195 LDLR low density lipoprotein receptor gene DOID:1936 atherosclerosis ISO RGD:2998 D RGD:9068941 20200609 RGD DNA:mutation:exon:478T > A(rat) PMID:22293196|REF_RGD_ID:12910105 11979195 LDLR low density lipoprotein receptor gene DOID:1936 atherosclerosis ISO RGD:735594 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11947894|PMID:18450471|PMID:22153697|PMID:25619500|PMID:28899902|PMID:34717031|PMID:36108984 11979195 LDLR low density lipoprotein receptor gene DOID:2349 arteriosclerosis ISO RGD:735594 D RGD:9068941 20200609 RGD PMID:12969990|REF_RGD_ID:1581826 11979195 LDLR low density lipoprotein receptor gene DOID:3145 hyperlipoproteinemia type III ISO RGD:735594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia PMID:20809525|PMID:25741868|PMID:28492532|PMID:28645073|PMID:33740630 11979195 LDLR low density lipoprotein receptor gene DOID:3345 xanthomatosis ISO RGD:2998 D RGD:9068941 20200609 RGD DNA:mutation:exon:478T > A(rat) PMID:22293196|REF_RGD_ID:12910105 11979195 LDLR low density lipoprotein receptor gene DOID:3393 coronary artery disease ISO RGD:735594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990|PMID:27135400 11979195 LDLR low density lipoprotein receptor gene DOID:3393 coronary artery disease no_association ISO RGD:735594 D RGD:9068941 20200609 RGD PMID:16459141|REF_RGD_ID:1581823 11979195 LDLR low density lipoprotein receptor gene DOID:3413 alpha-mannosidosis ISO RGD:735594 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11979195 LDLR low density lipoprotein receptor gene DOID:5082 liver cirrhosis ISO RGD:735594 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36108984 11979195 LDLR low density lipoprotein receptor gene DOID:557 kidney disease ISO RGD:10864 D RGD:9068941 20200609 RGD PMID:21795641|REF_RGD_ID:7241070 11979195 LDLR low density lipoprotein receptor gene DOID:630 genetic disease ISO RGD:735594 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11005141|PMID:11238294|PMID:11668640|PMID:11810272|PMID:11845603|PMID:11857755|PMID:11939787|PMID:12436241|PMID:12459547|PMID:1301940|PMID:1301956|PMID:1352322|PMID:15199436|PMID:16205024|PMID:16250003|PMID:16792510|PMID:17094996|PMID:17576681|PMID:19208450|PMID:20236128|PMID:20736250|PMID:2088165|PMID:21310417|PMID:21382890|PMID:21418584|PMID:22698793|PMID:23064986|PMID:2318961|PMID:23680767|PMID:24033266|PMID:24507775|PMID:25487149|PMID:25525159|PMID:25637381|PMID:25682442|PMID:25741868|PMID:26467025|PMID:26795593|PMID:27678436|PMID:27765764|PMID:28492532|PMID:30583242|PMID:31048103|PMID:31345425|PMID:3263645|PMID:34363016|PMID:35047021|PMID:36499307|PMID:4061491|PMID:4061492|PMID:6438436|PMID:9536098|PMID:9664576 11979195 LDLR low density lipoprotein receptor gene DOID:807 carotid artery occlusion ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carotid artery occlusion PMID:10782930|PMID:10978268|PMID:12837857|PMID:1301956|PMID:16183066|PMID:16250003|PMID:17094996|PMID:17765246|PMID:18677035|PMID:19318025|PMID:20506408|PMID:2088165|PMID:21310417|PMID:21475731|PMID:21722902|PMID:22390909|PMID:22698793|PMID:2318961|PMID:23375686|PMID:24033266|PMID:25741868|PMID:27765764|PMID:28492532|PMID:29261184|PMID:29399563|PMID:31345425|PMID:3263645|PMID:8882879|PMID:9157944|PMID:9484998 11979195 LDLR low density lipoprotein receptor gene DOID:9000528 Coronary Disease ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Early-onset coronary artery disease PMID:10422804|PMID:11810272|PMID:11845603|PMID:17765246|PMID:19318025|PMID:20506408|PMID:21382890|PMID:21642693|PMID:22390909|PMID:23375686|PMID:24033266|PMID:25487149|PMID:25647241|PMID:25741868|PMID:28161202|PMID:28492532|PMID:28895539|PMID:29353225|PMID:30971288|PMID:32719484|PMID:33454241|PMID:33740630|PMID:34037665|PMID:35339733|PMID:9712531 11979195 LDLR low density lipoprotein receptor gene DOID:9000808 Hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia PMID:10090473|PMID:10090484|PMID:10208479|PMID:10230472|PMID:10422803|PMID:10441197|PMID:10532689|PMID:10559517|PMID:10634824|PMID:10657581|PMID:10704205|PMID:10735632|PMID:10882754|PMID:11005141|PMID:11139254|PMID:11196104|PMID:11317361|PMID:11435110|PMID:11462246|PMID:11600564|PMID:11641914|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11857755|PMID:11939787|PMID:12124988|PMID:12406975|PMID:12436241|PMID:12492446|PMID:12553167|PMID:12730724|PMID:1301940|PMID:1301956|PMID:1352322|PMID:14209286|PMID:14508510|PMID:1453433|PMID:14974088|PMID:15199436|PMID:15241806|PMID:15256764|PMID:15359125|PMID:15523646|PMID:15556094|PMID:15576851|PMID:15701167|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15890894|PMID:16159606|PMID:16199547|PMID:16250003|PMID:16314194|PMID:16389549|PMID:16424354|PMID:16542394|PMID:16627557|PMID:16792510|PMID:17087781|PMID:17094996|PMID:17142622|PMID:17196209|PMID:17335829|PMID:17347910|PMID:1734910|PMID:17539906|PMID:17761685|PMID:17765246|PMID:18096825|PMID:18206115|PMID:18263977|PMID:18325082|PMID:18400033|PMID:18503695|PMID:18718593|PMID:19026292|PMID:19062533|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19446849|PMID:1959928|PMID:19602640|PMID:19717150|PMID:19837725|PMID:19843101|PMID:20018285|PMID:20091938|PMID:20145306|PMID:20236128|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20809525|PMID:2088165|PMID:20981092|PMID:21145767|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21418584|PMID:21475731|PMID:21531209|PMID:21722902|PMID:21865347|PMID:21925044|PMID:21935675|PMID:21957200|PMID:21990180|PMID:22294733|PMID:22353362|PMID:22390909|PMID:22487947|PMID:22683370|PMID:22698793|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:22995991|PMID:23054246|PMID:23064986|PMID:23130880|PMID:2318961|PMID:23375686|PMID:23669246|PMID:23680767|PMID:23820649|PMID:23833242|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24373485|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24956927|PMID:25154303|PMID:25333069|PMID:25378237|PMID:25395200|PMID:25437892|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25606447|PMID:25637381|PMID:25647241|PMID:25682026|PMID:25741862|PMID:25741868|PMID:25741872|PMID:25781017|PMID:25936317|PMID:26020417|PMID:26036859|PMID:26238499|PMID:26332594|PMID:26342331|PMID:26361156|PMID:26415676|PMID:26467025|PMID:26723464|PMID:26748104|PMID:26802169|PMID:26892515|PMID:26927322|PMID:27044878|PMID:27050191|PMID:27153395|PMID:27175606|PMID:27206935|PMID:27206941|PMID:27247956|PMID:27497240|PMID:27578104|PMID:27578128|PMID:27596133|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27878139|PMID:27998977|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28161202|PMID:28166811|PMID:28220743|PMID:28391882|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28645073|PMID:28873201|PMID:28965616|PMID:29083407|PMID:29172679|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29292049|PMID:29353225|PMID:29396260|PMID:29502162|PMID:29874871|PMID:29937437|PMID:30019023|PMID:30179711|PMID:3025214|PMID:30270083|PMID:30270091|PMID:30293936|PMID:30312929|PMID:30333156|PMID:30413722|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30710474|PMID:30777337|PMID:30795984|PMID:30971288|PMID:31048103|PMID:31106297|PMID:31213876|PMID:31345425|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:32015373|PMID:32041611|PMID:32163632|PMID:32331935|PMID:32423031|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32719484|PMID:32770674|PMID:32878475|PMID:32892247|PMID:32977124|PMID:33079599|PMID:33087929|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33508743|PMID:33740630|PMID:33854068|PMID:33955087|PMID:33975813|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34167030|PMID:34426522|PMID:34511120|PMID:3475071 11979195 LDLR low density lipoprotein receptor gene DOID:9000808 Hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia PMID:34906454|PMID:34906840|PMID:35460704|PMID:35535697|PMID:36226792|PMID:3815525|PMID:4061491|PMID:4061492|PMID:4083361|PMID:6438436|PMID:7548065|PMID:7573037|PMID:7603991|PMID:7616128|PMID:7718019|PMID:7749829|PMID:7820934|PMID:7833932|PMID:7979249|PMID:8295321|PMID:8535447|PMID:8829662|PMID:8911609|PMID:9026534|PMID:9104431|PMID:9237502|PMID:9254862|PMID:9259195|PMID:9409298|PMID:9544745|PMID:9544746|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9698020|PMID:9763532|PMID:9767373|PMID:9974426 11979195 LDLR low density lipoprotein receptor gene DOID:9002221 Hyperplasia ISO RGD:735594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9207284 11979195 LDLR low density lipoprotein receptor gene DOID:9003370 Dyslipidemias ISO RGD:735594 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dyslipidemia 11979195 LDLR low density lipoprotein receptor gene DOID:9004009 Reperfusion Injury ISO RGD:2998 D RGD:9068941 20200609 RGD PMID:17288738|REF_RGD_ID:2324630 11979195 LDLR low density lipoprotein receptor gene DOID:9005106 Animal Toxoplasmosis ISO RGD:10864 D RGD:9068941 20200609 RGD PMID:18316222|REF_RGD_ID:5490254 11979195 LDLR low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:10090473|PMID:10090484|PMID:10208479|PMID:10208489|PMID:10357843|PMID:10407508|PMID:10422803|PMID:10422804|PMID:10441197|PMID:10532689|PMID:10559517|PMID:10634824|PMID:10657581|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10978268|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11196104|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11373616|PMID:11381031|PMID:1139254|PMID:11462246|PMID:11491306|PMID:11585102|PMID:11641914|PMID:11668627|PMID:11668640|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11933210|PMID:12113284|PMID:12124988|PMID:12406975|PMID:12417285|PMID:12436241|PMID:12553167|PMID:12730724|PMID:12837857|PMID:1301940|PMID:1301956|PMID:1319734|PMID:1352322|PMID:14209286|PMID:14508510|PMID:14512370|PMID:1453433|PMID:1463746|PMID:1464748|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15100232|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15359125|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15864114|PMID:15936313|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16466730|PMID:16542394|PMID:16627557|PMID:16796766|PMID:17087781|PMID:17094996|PMID:17142622|PMID:17196209|PMID:17335829|PMID:17347910|PMID:1734910|PMID:17406740|PMID:17426749|PMID:17539906|PMID:17576681|PMID:17765246|PMID:17955342|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18503695|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19007590|PMID:19013141|PMID:19026292|PMID:19062533|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19411563|PMID:19446849|PMID:19467224|PMID:1952806|PMID:19538517|PMID:1959928|PMID:19602640|PMID:19717150|PMID:1978682|PMID:19837725|PMID:19843101|PMID:1999337|PMID:20045108|PMID:20089850|PMID:20145306|PMID:20236128|PMID:2029498|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20809525|PMID:20828696|PMID:2088165|PMID:21145767|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21418584|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21642693|PMID:21722902|PMID:21865347|PMID:21925044|PMID:21935675|PMID:21990180|PMID:220236128|PMID:22095935|PMID:22294733|PMID:22353362|PMID:22390909|PMID:22461740|PMID:22487947|PMID:22698793|PMID:22859806|PMID:22881376|PMID:22883975|PMID:23054246|PMID:23064986|PMID:23155708|PMID:2318961|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23537714|PMID:23669246|PMID:23680767|PMID:23833242|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24281370|PMID:24373485|PMID:24507775|PMID:24627126|PMID:24956927|PMID:25154303|PMID:25257073|PMID:25282520|PMID:25378237|PMID:25412742|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25637381|PMID:25647241|PMID:2569482|PMID:25741868|PMID:25741871|PMID:25911074|PMID:25921077|PMID:25936317|PMID:25962062|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26238499|PMID:26343872|PMID:26433113|PMID:26467025|PMID:26633542|PMID:26723464|PMID:26748104|PMID:26892515|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27206935|PMID:27247956|PMID:2726768|PMID:27542166|PMID:27578127|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27824480|PMID:27854218|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28169869|PMID:28235710|PMID:28349240|PMID:28379029|PMID:28391882|PMID:28458923|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28958694|PMID:28964736|PMID:28965616|PMID:2901412|PMID:29083407|PMID:2920733|PMID:29233637|PMID:29261184|PMID:29284604|PMID:29353225|PMID:29407885|PMID:29531935|PMID:29874871|PMID:30112042|PMID:3020025|PMID:30241732|PMID:3025214 11979195 LDLR low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:30270055|PMID:30270076|PMID:30293936|PMID:30312929|PMID:30333156|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30710474|PMID:30795984|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31345425|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31727422|PMID:31980526|PMID:3198114|PMID:32015373|PMID:3202825|PMID:32041611|PMID:32143996|PMID:32220565|PMID:32331935|PMID:32522009|PMID:3263645|PMID:32660911|PMID:32719484|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32922439|PMID:32977124|PMID:33087929|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33508743|PMID:33740630|PMID:34037665|PMID:3425583|PMID:3472763|PMID:3815525|PMID:4061492|PMID:6324732|PMID:7489239|PMID:7548065|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7894220|PMID:7903864|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8347689|PMID:8399083|PMID:8535447|PMID:8645371|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9016531|PMID:9026534|PMID:9048913|PMID:9104431|PMID:9157944|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9409298|PMID:9452078|PMID:9452095|PMID:9484998|PMID:9536098|PMID:9544745|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9974426 11979195 LDLR low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:30312929|PMID:30333156|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30710474|PMID:30795984|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31345425|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31727422|PMID:31980526|PMID:3198114|PMID:32015373|PMID:3202825|PMID:32041611|PMID:32143996|PMID:32220565|PMID:32331935|PMID:32522009|PMID:3263645|PMID:32660911|PMID:32719484|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32922439|PMID:32977124|PMID:33087929|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33508743|PMID:33740630|PMID:34037665|PMID:3425583|PMID:3472763|PMID:3815525|PMID:4061492|PMID:6324732|PMID:7489239|PMID:7548065|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7894220|PMID:7903864|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8347689|PMID:8399083|PMID:8535447|PMID:8645371|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9016531|PMID:9026534|PMID:9048913|PMID:9104431|PMID:9157944|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9409298|PMID:9452078|PMID:9452095|PMID:9484998|PMID:9536098|PMID:9544745|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9974426 11979195 LDLR low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208489|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10422803|PMID:10422804|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10634824|PMID:10657581|PMID:10668928|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10933493|PMID:10947889|PMID:10978268|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11196104|PMID:11237541|PMID:11257257|PMID:11295843|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:1139254|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11491306|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12730724|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1319734|PMID:1352322|PMID:14209286|PMID:1438159|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:15494314|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15633194|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:16792510|PMID:16796766|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19007590|PMID:19013141|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:1978682|PMID:19797716|PMID:19837725|PMID:19843101|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21475731|PMID:21511053 11979195 LDLR low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23536757|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25637381|PMID:25647241|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25781017|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26833332|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29720182|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083 11979195 LDLR low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31653860|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33890362|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34906454|PMID:3494949|PMID:35339733|PMID:35460704|PMID:35535697|PMID:35568682|PMID:35929461|PMID:3815525|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7548065|PMID:7550239|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426 11979195 LDLR low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:2143996|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23536757|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25637381|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26833332|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:30112042 11979195 LDLR low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31653860|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:35339733|PMID:35460704|PMID:35535697|PMID:35568682|PMID:35929461|PMID:3815525|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426 11979195 LDLR low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:2143996|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23536757|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25637381|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:30112042|PMID:30179711|PMID:3020025 11979195 LDLR low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31653860|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32165824|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:35339733|PMID:35460704|PMID:35535697|PMID:35568682|PMID:35929461|PMID:3815525|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426 11979195 LDLR low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208489|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10422803|PMID:10422804|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10634824|PMID:10657581|PMID:10668928|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10933493|PMID:10947889|PMID:10978268|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11196104|PMID:11237541|PMID:11257257|PMID:11295843|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:1139254|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11491306|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12730724|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1319734|PMID:1352322|PMID:14209286|PMID:1438159|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:15494314|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15633194|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:16792510|PMID:16796766|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19007590|PMID:19013141|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:1978682|PMID:19797716|PMID:19837725|PMID:19843101|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890 11979195 LDLR low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:21418584|PMID:2143996|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25637381|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:30112042 11979195 LDLR low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31653860|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:33955087|PMID:33975813|PMID:33992589|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:35339733|PMID:35460704|PMID:35535697|PMID:35568682|PMID:35631530|PMID:35929461|PMID:36226792|PMID:36325061|PMID:3815525|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426 11979195 LDLR low density lipoprotein receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2998 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:18054320|REF_RGD_ID:2324626 11979195 LDLR low density lipoprotein receptor gene DOID:9006599 Hypertriglyceridemia ISO RGD:2998 D RGD:9068941 20200609 RGD PMID:27378433|PMID:28469073|REF_RGD_ID:12910100|REF_RGD_ID:12910104 11979195 LDLR low density lipoprotein receptor gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:10864 D RGD:9068941 20200609 RGD protein:decreased expression: liver (rat) PMID:20028367|REF_RGD_ID:21410185 11979195 LDLR low density lipoprotein receptor gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:2998 D RGD:9068941 20200609 RGD protein:decreased expression: liver (rat) PMID:20028367|REF_RGD_ID:21410185 11979195 LDLR low density lipoprotein receptor gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:735594 D RGD:9068941 20200609 RGD protein:decreased expression: liver (rat) PMID:20028367|REF_RGD_ID:21410185 11979195 LDLR low density lipoprotein receptor gene DOID:9007096 Stroke ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Stroke PMID:10782930|PMID:10978268|PMID:12837857|PMID:1301956|PMID:16183066|PMID:16250003|PMID:17094996|PMID:17765246|PMID:18677035|PMID:19318025|PMID:20506408|PMID:2088165|PMID:21310417|PMID:21475731|PMID:21722902|PMID:22390909|PMID:22698793|PMID:2318961|PMID:23375686|PMID:24033266|PMID:25741868|PMID:27765764|PMID:28492532|PMID:29261184|PMID:29399563|PMID:31345425|PMID:3263645|PMID:8882879|PMID:9157944|PMID:9484998 11979195 LDLR low density lipoprotein receptor gene DOID:9007096 Stroke susceptibility ISO RGD:735594 D RGD:9068941 20200609 RGD DNA:SNPs:introns: (rs2738446, rs2738450) (human) PMID:19589204|REF_RGD_ID:5490232 11979195 LDLR low density lipoprotein receptor gene DOID:9007234 Carotid Artery Dissection, Internal ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Internal carotid artery dissection PMID:10782930|PMID:10978268|PMID:12837857|PMID:1301956|PMID:16183066|PMID:16250003|PMID:17094996|PMID:17765246|PMID:18677035|PMID:19318025|PMID:20506408|PMID:2088165|PMID:21310417|PMID:21475731|PMID:21722902|PMID:22390909|PMID:22698793|PMID:2318961|PMID:23375686|PMID:24033266|PMID:25741868|PMID:27765764|PMID:28492532|PMID:29261184|PMID:29399563|PMID:31345425|PMID:3263645|PMID:8882879|PMID:9157944|PMID:9484998 11979195 LDLR low density lipoprotein receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735594 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36108984 11979195 LDLR low density lipoprotein receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:735594 D RGD:9068941 20200609 RGD mRNA:decreased expression:leukocyte PMID:19811272|REF_RGD_ID:5490253 11979195 LDLR low density lipoprotein receptor gene DOID:9348 carotid artery dissection ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carotid artery dissection PMID:10782930|PMID:10978268|PMID:12837857|PMID:1301956|PMID:16183066|PMID:16250003|PMID:17094996|PMID:17765246|PMID:18677035|PMID:19318025|PMID:20506408|PMID:2088165|PMID:21310417|PMID:21475731|PMID:21722902|PMID:22390909|PMID:22698793|PMID:2318961|PMID:23375686|PMID:24033266|PMID:25741868|PMID:27765764|PMID:28492532|PMID:29261184|PMID:29399563|PMID:31345425|PMID:3263645|PMID:8882879|PMID:9157944|PMID:9484998 11979195 LDLR low density lipoprotein receptor gene DOID:9452 fatty liver disease ISO RGD:10864 D RGD:9068941 20220825 MouseDO OMIM:228100 11979195 LDLR low density lipoprotein receptor gene DOID:9452 fatty liver disease ISO RGD:2998 D RGD:9068941 20211112 RGD PMID:29459263|REF_RGD_ID:13703129 11979195 LDLR low density lipoprotein receptor gene DOID:9452 fatty liver disease ISO RGD:735594 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:25554529|PMID:36108984 11979195 LDLR low density lipoprotein receptor gene DOID:9970 obesity ISO RGD:735594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25554529 11979217 CANT1 calcium activated nucleotidase 1 gene DOID:0060462 Desbuquois dysplasia ISO RGD:1348972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desbuquois syndrome 11979217 CANT1 calcium activated nucleotidase 1 gene DOID:0070302 multiple epiphyseal dysplasia 7 ISO RGD:1348972 D RGD:7240710 20190315 OMIM 11979217 CANT1 calcium activated nucleotidase 1 gene DOID:0070302 multiple epiphyseal dysplasia 7 ISO RGD:1348972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 7 PMID:20358597|PMID:21037275|PMID:21412251|PMID:25741868|PMID:28492532|PMID:28742282 11979217 CANT1 calcium activated nucleotidase 1 gene DOID:12721 multiple epiphyseal dysplasia ISO RGD:1348972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia PMID:28492532|PMID:28742282 11979217 CANT1 calcium activated nucleotidase 1 gene DOID:2256 osteochondrodysplasia ISO RGD:1348972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia PMID:28492532|PMID:28742282 11979217 CANT1 calcium activated nucleotidase 1 gene DOID:630 genetic disease ISO RGD:1348972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19853239|PMID:21037275|PMID:21654728|PMID:22539336|PMID:28492532 11979217 CANT1 calcium activated nucleotidase 1 gene DOID:9007521 Desbuquois Dysplasia 1 ISO RGD:1348972 D RGD:7240710 20190327 OMIM 11979217 CANT1 calcium activated nucleotidase 1 gene DOID:9007521 Desbuquois Dysplasia 1 ISO RGD:1348972 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 1 PMID:17576681|PMID:19853239|PMID:20358597|PMID:20358610|PMID:21037275|PMID:21412251|PMID:21654728|PMID:22539336|PMID:25741868|PMID:28492532|PMID:28742282|PMID:31988067|PMID:32907608|PMID:34270679|PMID:9536098 11979217 CANT1 calcium activated nucleotidase 1 gene DOID:9007661 Dwarfism ISO RGD:1348972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11979217 CANT1 calcium activated nucleotidase 1 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1348972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 11979226 ZNF221 zinc finger protein 221 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1347890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 11979226 ZNF221 zinc finger protein 221 gene DOID:5419 schizophrenia ISO RGD:1347890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11979226 ZNF221 zinc finger protein 221 gene DOID:630 genetic disease ISO RGD:1347890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11979235 SMC6 structural maintenance of chromosomes 6 gene DOID:630 genetic disease ISO RGD:1322555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11979266 RBM20 RNA binding motif protein 20 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1316618 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:23396983|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26498160|PMID:26656175|PMID:27296017|PMID:28492532|PMID:29892087|PMID:30775854 11979266 RBM20 RNA binding motif protein 20 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1316618 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:27854218 11979266 RBM20 RNA binding motif protein 20 gene DOID:0050700 cardiomyopathy ISO RGD:1316618 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:18585512|PMID:19712804|PMID:20590677|PMID:21483645|PMID:22004663|PMID:22466703|PMID:23396983|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25448463|PMID:25637381|PMID:25741868|PMID:26084686|PMID:26257771|PMID:26272908|PMID:26498160|PMID:26656175|PMID:27296017|PMID:27496873|PMID:27531932|PMID:27532257|PMID:27650965|PMID:27896284|PMID:28074886|PMID:28087566|PMID:28301460|PMID:28492532|PMID:28798025|PMID:29247119|PMID:29517769|PMID:29540472|PMID:29628476|PMID:29650543|PMID:29892087|PMID:29895960|PMID:30012837|PMID:30547036|PMID:30775854|PMID:30847666|PMID:30871348|PMID:30871351|PMID:30972196|PMID:31737537|PMID:32187365|PMID:32840935|PMID:32851336|PMID:32880476|PMID:33134301|PMID:34540771 11979266 RBM20 RNA binding motif protein 20 gene DOID:0060224 atrial fibrillation ISO RGD:1316618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11979266 RBM20 RNA binding motif protein 20 gene DOID:0060224 atrial fibrillation ISO RGD:1616733 D RGD:9068941 20220825 MouseDO 11979266 RBM20 RNA binding motif protein 20 gene DOID:0060319 cardiac arrest ISO RGD:1316618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:22004663|PMID:24033266|PMID:24503780|PMID:25637381|PMID:25741868|PMID:27896284|PMID:28492532|PMID:28798025 11979266 RBM20 RNA binding motif protein 20 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1316618 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:25163546|PMID:25351510|PMID:25741868|PMID:28492532|PMID:30847666 11979266 RBM20 RNA binding motif protein 20 gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:1316618 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 11979266 RBM20 RNA binding motif protein 20 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1316618 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:24033266|PMID:25163546|PMID:25351510|PMID:25741868|PMID:28492532|PMID:30847666 11979266 RBM20 RNA binding motif protein 20 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1316618 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:19712804|PMID:20590677|PMID:22004663|PMID:22466703|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25351510|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28798025|PMID:29253866|PMID:29367541|PMID:29650543|PMID:30847666|PMID:30871348|PMID:31737537|PMID:32840935|PMID:32969603 11979266 RBM20 RNA binding motif protein 20 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1316618 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:19712804|PMID:20590677|PMID:22004663|PMID:22466703|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25351510|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28798025|PMID:29253866|PMID:29367541|PMID:29650543|PMID:30847666|PMID:30871348|PMID:31737537|PMID:32840935|PMID:32969603 11979266 RBM20 RNA binding motif protein 20 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1316618 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:19712804|PMID:20590677|PMID:21483645|PMID:22004663|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:25448463|PMID:25741868|PMID:26084686|PMID:28492532|PMID:29247119|PMID:29895960|PMID:30972196 11979266 RBM20 RNA binding motif protein 20 gene DOID:0110447 dilated cardiomyopathy 1DD ISO RGD:1316618 D RGD:7240710 20180130 OMIM 11979266 RBM20 RNA binding motif protein 20 gene DOID:0110447 dilated cardiomyopathy 1DD ISO RGD:1316618 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:16199547|PMID:17576681|PMID:18585512|PMID:19712804|PMID:20590677|PMID:21483645|PMID:21846512|PMID:22004663|PMID:22466703|PMID:22561820|PMID:23396983|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25163546|PMID:25351510|PMID:25448463|PMID:25637381|PMID:25741868|PMID:25979592|PMID:26084686|PMID:26257771|PMID:26272908|PMID:26458567|PMID:26498160|PMID:26604136|PMID:26656175|PMID:27296017|PMID:27496873|PMID:27531932|PMID:27532257|PMID:27650965|PMID:27896284|PMID:28074886|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28301460|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28704380|PMID:28798025|PMID:29029073|PMID:29247119|PMID:29253866|PMID:29367541|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29628476|PMID:29650543|PMID:29892087|PMID:29895960|PMID:29915098|PMID:29961767|PMID:30012837|PMID:30165862|PMID:30262924|PMID:30262925|PMID:30276801|PMID:30487145|PMID:30547036|PMID:30557877|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30871348|PMID:30871351|PMID:30972196|PMID:31198128|PMID:31317183|PMID:31333075|PMID:31376648|PMID:31514951|PMID:31568572|PMID:31583969|PMID:31638414|PMID:31648988|PMID:31737537|PMID:31918855|PMID:32187365|PMID:32344918|PMID:32674065|PMID:32746448|PMID:32789579|PMID:32789749|PMID:32817827|PMID:32840935|PMID:32851336|PMID:32880476|PMID:32969603|PMID:33019804|PMID:33029862|PMID:33134301|PMID:33188278|PMID:33450993|PMID:33662488|PMID:34174465|PMID:34486814|PMID:34540771|PMID:35470680|PMID:36417486|PMID:9536098 11979266 RBM20 RNA binding motif protein 20 gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1316618 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:19712804|PMID:20590677|PMID:22004663|PMID:22466703|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28798025|PMID:29253866|PMID:29367541|PMID:29650543|PMID:30847666|PMID:30871348|PMID:31737537|PMID:32840935|PMID:32969603 11979266 RBM20 RNA binding motif protein 20 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1316618 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:22004663|PMID:24033266|PMID:24503780|PMID:25637381|PMID:25741868|PMID:27650965|PMID:27896284|PMID:28492532|PMID:28798025|PMID:29650543|PMID:29895960|PMID:30847666|PMID:30871348|PMID:32187365|PMID:32840935 11979266 RBM20 RNA binding motif protein 20 gene DOID:12930 dilated cardiomyopathy ISO RGD:1316618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18585512|PMID:19712804|PMID:20590677|PMID:21483645|PMID:22004663|PMID:22466703|PMID:22561820|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25163546|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26084686|PMID:26458567|PMID:26604136|PMID:27496873|PMID:27531932|PMID:27532257|PMID:27896284|PMID:28492532|PMID:28798025|PMID:29029073|PMID:29540472|PMID:29650543|PMID:30012837|PMID:30871348|PMID:30871351|PMID:31333075|PMID:31568572|PMID:32789749|PMID:32880476 11979266 RBM20 RNA binding motif protein 20 gene DOID:12930 dilated cardiomyopathy ISO RGD:1316618 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18585512|PMID:19712804|PMID:20590677|PMID:21483645|PMID:22004663|PMID:22466703|PMID:22561820|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25163546|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26084686|PMID:26458567|PMID:26604136|PMID:27496873|PMID:27531932|PMID:27532257|PMID:27896284|PMID:28492532|PMID:28798025|PMID:29029073|PMID:29540472|PMID:29650543|PMID:30012837|PMID:30871348|PMID:30871351|PMID:31333075|PMID:31568572|PMID:32789749|PMID:32880476|PMID:34540771 11979266 RBM20 RNA binding motif protein 20 gene DOID:12930 dilated cardiomyopathy ISO RGD:1316618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18585512|PMID:19712804|PMID:20590677|PMID:21483645|PMID:22004663|PMID:22466703|PMID:22561820|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25163546|PMID:25351510|PMID:25448463|PMID:25637381|PMID:25741868|PMID:26084686|PMID:26458567|PMID:26604136|PMID:27496873|PMID:27531932|PMID:27532257|PMID:27650965|PMID:27896284|PMID:28492532|PMID:28798025|PMID:29029073|PMID:29253866|PMID:29367541|PMID:29540472|PMID:29650543|PMID:29895960|PMID:30012837|PMID:30165862|PMID:30487145|PMID:30547036|PMID:30847666|PMID:30871348|PMID:30871351|PMID:30972196|PMID:31317183|PMID:31333075|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31918855|PMID:32187365|PMID:32789749|PMID:32840935|PMID:32880476|PMID:32969603|PMID:33134301|PMID:33662488|PMID:34174465|PMID:34540771 11979266 RBM20 RNA binding motif protein 20 gene DOID:12930 dilated cardiomyopathy severity ISO RGD:1316618 D RGD:9068941 20221110 RGD DNA:missense mutations:exon 9:multiple (human) PMID:19712804|REF_RGD_ID:11067476 11979266 RBM20 RNA binding motif protein 20 gene DOID:2843 long QT syndrome ISO RGD:1316618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:22004663|PMID:23396983|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26498160|PMID:26656175|PMID:27296017|PMID:28492532|PMID:30775854 11979266 RBM20 RNA binding motif protein 20 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1316618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 11979266 RBM20 RNA binding motif protein 20 gene DOID:6000 congestive heart failure ISO RGD:1316618 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Heart failure PMID:25741868|PMID:28492532|PMID:31376648 11979266 RBM20 RNA binding motif protein 20 gene DOID:630 genetic disease ISO RGD:1316618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11979266 RBM20 RNA binding motif protein 20 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1316618 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:24033266|PMID:24503780|PMID:25741868|PMID:27496873|PMID:27531932|PMID:27532257|PMID:28492532|PMID:29650543|PMID:29895960|PMID:30547036|PMID:30871348|PMID:30871351|PMID:32187365|PMID:32840935|PMID:33134301|PMID:34540771 11979266 RBM20 RNA binding motif protein 20 gene DOID:9003163 Heart Block ISO RGD:1316618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:24033266|PMID:25741868|PMID:28492532 11979266 RBM20 RNA binding motif protein 20 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1316618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:28492532 11979266 RBM20 RNA binding motif protein 20 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:1316618 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:24033266|PMID:25741868|PMID:28492532 11979284 NAP1L3 nucleosome assembly protein 1 like 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11979284 NAP1L3 nucleosome assembly protein 1 like 3 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1343656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:25741868 11979284 NAP1L3 nucleosome assembly protein 1 like 3 gene DOID:12849 autistic disorder ISO RGD:1343656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11979284 NAP1L3 nucleosome assembly protein 1 like 3 gene DOID:630 genetic disease ISO RGD:1343656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11979289 BEND2 BEN domain containing 2 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1350095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11979289 BEND2 BEN domain containing 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11979289 BEND2 BEN domain containing 2 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1350095 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:19780792|PMID:21770923|PMID:22872100|PMID:23184456|PMID:25315662|PMID:28492532|PMID:30945684 11979289 BEND2 BEN domain containing 2 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1350095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11979289 BEND2 BEN domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1350095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11979289 BEND2 BEN domain containing 2 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1350095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11979289 BEND2 BEN domain containing 2 gene DOID:630 genetic disease ISO RGD:1350095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11979289 BEND2 BEN domain containing 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1350095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11979289 BEND2 BEN domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11979310 TEX36 testis expressed 36 gene DOID:630 genetic disease ISO RGD:1352588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11979323 POU2F3 POU class 2 homeobox 3 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1351293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 11979323 POU2F3 POU class 2 homeobox 3 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1351293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11979323 POU2F3 POU class 2 homeobox 3 gene DOID:0080690 RASopathy ISO RGD:1351293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11979323 POU2F3 POU class 2 homeobox 3 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1351293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 11979323 POU2F3 POU class 2 homeobox 3 gene DOID:0111971 immunodeficiency 18 ISO RGD:1351293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 11979323 POU2F3 POU class 2 homeobox 3 gene DOID:0111972 immunodeficiency 19 ISO RGD:1351293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 11979323 POU2F3 POU class 2 homeobox 3 gene DOID:0111973 immunodeficiency 17 ISO RGD:1351293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 11979323 POU2F3 POU class 2 homeobox 3 gene DOID:5419 schizophrenia ISO RGD:1351293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11979323 POU2F3 POU class 2 homeobox 3 gene DOID:630 genetic disease ISO RGD:1351293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11979323 POU2F3 POU class 2 homeobox 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1351293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11979323 POU2F3 POU class 2 homeobox 3 gene DOID:9007661 Dwarfism ISO RGD:1351293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11979364 RAD23A RAD23 homolog A, nucleotide excision repair protein gene DOID:0050990 episodic ataxia type 2 ISO RGD:1320493 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11979364 RAD23A RAD23 homolog A, nucleotide excision repair protein gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1320493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11979364 RAD23A RAD23 homolog A, nucleotide excision repair protein gene DOID:0111254 glutaric acidemia I ISO RGD:1320493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11979364 RAD23A RAD23 homolog A, nucleotide excision repair protein gene DOID:3413 alpha-mannosidosis ISO RGD:1320493 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11979364 RAD23A RAD23 homolog A, nucleotide excision repair protein gene DOID:630 genetic disease ISO RGD:1320493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11979364 RAD23A RAD23 homolog A, nucleotide excision repair protein gene DOID:9000217 Stomach Neoplasms ISO RGD:1320493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11979364 RAD23A RAD23 homolog A, nucleotide excision repair protein gene DOID:9000918 Disease Progression ISO RGD:1320493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11979379 OCRL OCRL inositol polyphosphate-5-phosphatase gene DOID:0050699 Dent disease ISO RGD:1350136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dent disease PMID:15108291|PMID:21031565|PMID:21971085|PMID:27398910|PMID:29300302 11979379 OCRL OCRL inositol polyphosphate-5-phosphatase gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1350136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis PMID:23047739|PMID:25741868|PMID:26694549|PMID:28492532 11979379 OCRL OCRL inositol polyphosphate-5-phosphatase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11979379 OCRL OCRL inositol polyphosphate-5-phosphatase gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:1350136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:22796527|PMID:24357419|PMID:28492532 11979379 OCRL OCRL inositol polyphosphate-5-phosphatase gene DOID:0080600 COVID-19 ISO RGD:1350136 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11979379 OCRL OCRL inositol polyphosphate-5-phosphatase gene DOID:1056 oculocerebrorenal syndrome ISO RGD:1350136 D RGD:7240710 20180130 OMIM 11979379 OCRL OCRL inositol polyphosphate-5-phosphatase gene DOID:1056 oculocerebrorenal syndrome ISO RGD:1350136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lowe syndrome | ClinVar Annotator: match by term: Oculocerebrorenal Syndrome PMID:10364518|PMID:10767176|PMID:10923037|PMID:11149618|PMID:14981612|PMID:15627218|PMID:16199547|PMID:16381338|PMID:17142121|PMID:17162149|PMID:17384968|PMID:17576681|PMID:17765681|PMID:18500547|PMID:19390221|PMID:19902262|PMID:20301653|PMID:21031565|PMID:21225285|PMID:21233288|PMID:21666675|PMID:22381590|PMID:22965764|PMID:23047739|PMID:24081861|PMID:24711037|PMID:24912603|PMID:25305077|PMID:25326635|PMID:25480730|PMID:25741868|PMID:26694549|PMID:27059748|PMID:27625797|PMID:27708066|PMID:28492532|PMID:28669993|PMID:28803024|PMID:28973083|PMID:29300302|PMID:30773290|PMID:31672324|PMID:31674016|PMID:32712215|PMID:34125233|PMID:34139759|PMID:8504307|PMID:9199559|PMID:9536098|PMID:9632163|PMID:9682219|PMID:9788721 11979379 OCRL OCRL inositol polyphosphate-5-phosphatase gene DOID:1059 intellectual disability ISO RGD:1350136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11979379 OCRL OCRL inositol polyphosphate-5-phosphatase gene DOID:12849 autistic disorder ISO RGD:1350136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11979379 OCRL OCRL inositol polyphosphate-5-phosphatase gene DOID:630 genetic disease ISO RGD:1350136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19390221|PMID:21031565|PMID:22381590|PMID:23047739|PMID:25326635|PMID:25480730|PMID:25741868|PMID:26694549|PMID:28492532 11979379 OCRL OCRL inositol polyphosphate-5-phosphatase gene DOID:83 cataract ISO RGD:1350136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:23047739|PMID:25741868|PMID:26694549|PMID:28492532 11979379 OCRL OCRL inositol polyphosphate-5-phosphatase gene DOID:9007045 Dent Disease 2 ISO RGD:1350136 D RGD:7240710 20180130 OMIM 11979379 OCRL OCRL inositol polyphosphate-5-phosphatase gene DOID:9007045 Dent Disease 2 ISO RGD:1350136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dent disease type 2 PMID:1321346|PMID:15627218|PMID:16381338|PMID:17162149|PMID:17384968|PMID:19390221|PMID:21031565|PMID:22381590|PMID:23047739|PMID:24081861|PMID:25480730|PMID:25741868|PMID:26694549|PMID:27625797|PMID:28018608|PMID:28492532|PMID:28803024|PMID:31674016|PMID:34125233|PMID:34139759|PMID:8504307 11979413 KRT28 keratin 28 gene DOID:630 genetic disease ISO RGD:1319917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11979424 CA8 carbonic anhydrase 8 gene DOID:0050834 CHARGE syndrome ISO RGD:1312313 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:18413373|PMID:19772954|PMID:22258531|PMID:22902603|PMID:28492532 11979424 CA8 carbonic anhydrase 8 gene DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome ISO RGD:1312314 D RGD:9068941 20220825 MouseDO OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268 11979424 CA8 carbonic anhydrase 8 gene DOID:1059 intellectual disability ISO RGD:1312313 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11979424 CA8 carbonic anhydrase 8 gene DOID:630 genetic disease ISO RGD:1312313 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 11979424 CA8 carbonic anhydrase 8 gene DOID:9005300 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 ISO RGD:1312313 D RGD:7240710 20180130 OMIM 11979424 CA8 carbonic anhydrase 8 gene DOID:9005300 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 ISO RGD:1312313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 PMID:19461874|PMID:21937992|PMID:25741868 11979437 DEK DEK proto-oncogene gene DOID:630 genetic disease ISO RGD:1349075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11979437 DEK DEK proto-oncogene gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349075 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 11979437 DEK DEK proto-oncogene gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1349075 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21291860|PMID:27811057 11979437 DEK DEK proto-oncogene gene DOID:9006205 Animal Disease Models ISO RGD:1349075 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 11979437 DEK DEK proto-oncogene gene DOID:9008939 Breast Neoplasms ISO RGD:1349075 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 11979472 ARHGEF3 Rho guanine nucleotide exchange factor 3 gene DOID:630 genetic disease ISO RGD:1321712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11979518 SPMIP10 sperm associated microtubule inner protein 10 gene DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy ISO RGD:1605198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy PMID:25741868 11979518 SPMIP10 sperm associated microtubule inner protein 10 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605198 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11979518 SPMIP10 sperm associated microtubule inner protein 10 gene DOID:630 genetic disease ISO RGD:1605198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11979518 SPMIP10 sperm associated microtubule inner protein 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11979518 SPMIP10 sperm associated microtubule inner protein 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605198 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11979525 LINC02991 long intergenic non-protein coding RNA 2991 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:8663197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 11979525 LINC02991 long intergenic non-protein coding RNA 2991 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:8663197 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11979538 TRAPPC3 trafficking protein particle complex subunit 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11979538 TRAPPC3 trafficking protein particle complex subunit 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1319308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 11979538 TRAPPC3 trafficking protein particle complex subunit 3 gene DOID:630 genetic disease ISO RGD:1319308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11979551 DPP3 dipeptidyl peptidase 3 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:736150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:22219654|PMID:28492532 11979551 DPP3 dipeptidyl peptidase 3 gene DOID:1059 intellectual disability ISO RGD:736150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11979551 DPP3 dipeptidyl peptidase 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11979551 DPP3 dipeptidyl peptidase 3 gene DOID:2746 glycogen storage disease V ISO RGD:736150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11979551 DPP3 dipeptidyl peptidase 3 gene DOID:630 genetic disease ISO RGD:736150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11979551 DPP3 dipeptidyl peptidase 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:736150 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11979551 DPP3 dipeptidyl peptidase 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:736150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11979590 PDZD4 PDZ domain containing 4 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1343770 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11979590 PDZD4 PDZ domain containing 4 gene DOID:0050476 Barth syndrome ISO RGD:1343770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11979590 PDZD4 PDZ domain containing 4 gene DOID:0050800 creatine transporter deficiency ISO RGD:1343770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 11979590 PDZD4 PDZ domain containing 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11979590 PDZD4 PDZ domain containing 4 gene DOID:0080600 COVID-19 ISO RGD:1343770 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11979590 PDZD4 PDZ domain containing 4 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1343770 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 11979590 PDZD4 PDZ domain containing 4 gene DOID:0112003 immunodeficiency 33 ISO RGD:1343770 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11979590 PDZD4 PDZ domain containing 4 gene DOID:10588 adrenoleukodystrophy ISO RGD:1343770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11979590 PDZD4 PDZ domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1343770 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: intellectual disabilities 11979590 PDZD4 PDZ domain containing 4 gene DOID:10907 microcephaly ISO RGD:1343770 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Microcephaly 11979590 PDZD4 PDZ domain containing 4 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11979590 PDZD4 PDZ domain containing 4 gene DOID:12849 autistic disorder ISO RGD:1343770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11979590 PDZD4 PDZ domain containing 4 gene DOID:13628 favism ISO RGD:1343770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11979590 PDZD4 PDZ domain containing 4 gene DOID:2729 dyskeratosis congenita ISO RGD:1343770 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11979590 PDZD4 PDZ domain containing 4 gene DOID:480 movement disease ISO RGD:1343770 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Movement disorder 11979590 PDZD4 PDZ domain containing 4 gene DOID:607 paraplegia ISO RGD:1343770 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11979590 PDZD4 PDZ domain containing 4 gene DOID:630 genetic disease ISO RGD:1343770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11979590 PDZD4 PDZ domain containing 4 gene DOID:9002720 Splenomegaly ISO RGD:1343770 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11979627 CDKL4 cyclin dependent kinase like 4 gene DOID:1682 congenital heart disease ISO RGD:1603844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of 11979627 CDKL4 cyclin dependent kinase like 4 gene DOID:3883 Lynch syndrome ISO RGD:1603844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11979627 CDKL4 cyclin dependent kinase like 4 gene DOID:630 genetic disease ISO RGD:1603844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11979627 CDKL4 cyclin dependent kinase like 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11979639 GLIPR1L1 GLIPR1 like 1 gene DOID:630 genetic disease ISO RGD:1605255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11979650 GARNL3 GTPase activating Rap/RanGAP domain like 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11979650 GARNL3 GTPase activating Rap/RanGAP domain like 3 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1346418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11979650 GARNL3 GTPase activating Rap/RanGAP domain like 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11979650 GARNL3 GTPase activating Rap/RanGAP domain like 3 gene DOID:1059 intellectual disability ISO RGD:1346418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 11979650 GARNL3 GTPase activating Rap/RanGAP domain like 3 gene DOID:630 genetic disease ISO RGD:1346418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11979688 NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1321815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:22277967|PMID:22499348|PMID:25741868|PMID:26467025|PMID:27091925|PMID:28492532|PMID:31000363 11979688 NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1321815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11979688 NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1321815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11979688 NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:0112067 nuclear type mitochondrial complex I deficiency 25 ISO RGD:1321815 D RGD:7240710 20190315 OMIM 11979688 NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:0112067 nuclear type mitochondrial complex I deficiency 25 ISO RGD:1321815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 PMID:22277967|PMID:22499348|PMID:25741868|PMID:26467025|PMID:26795593|PMID:27091925|PMID:28492532|PMID:31000363 11979688 NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:10652 Alzheimer's disease ISO RGD:1321815 D RGD:9068941 20200609 RGD PMID:28474567|REF_RGD_ID:13792588 11979688 NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:1826 epilepsy ISO RGD:1321815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11979688 NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:630 genetic disease ISO RGD:1321815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22277967|PMID:22499348|PMID:25741868|PMID:26467025|PMID:26795593|PMID:27091925|PMID:28492532|PMID:31000363 11979688 NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:83 cataract ISO RGD:1321815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 11979688 NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1321815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 11979688 NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11979688 NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1321815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11979703 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:0050952 spastic ataxia ISO RGD:68558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 11979703 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:0050993 episodic ataxia type 5 ISO RGD:68558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 5 PMID:10762541|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28492532 11979703 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:0050993 episodic ataxia type 5 susceptibility ISO RGD:68558 D RGD:7240710 20230505 OMIM 11979703 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:0110928 nemaline myopathy 2 ISO RGD:68558 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25205138|PMID:28492532 11979703 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:0111323 idiopathic generalized epilepsy 9 ISO RGD:68558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 9 | ClinVar Annotator: match by term: Epilepsy, juvenile myoclonic, susceptibility to, 6 PMID:10762541|PMID:25741868|PMID:26467025|PMID:28492532 11979703 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:0111323 idiopathic generalized epilepsy 9 susceptibility ISO RGD:68558 D RGD:7240710 20190904 OMIM 11979703 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:68558 D RGD:9068941 20200609 RGD DNA:SNPs:introns: PMID:29495422|REF_RGD_ID:13515053 11979703 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:68558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:10762541|PMID:17576681|PMID:18755274|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28492532|PMID:9536098 11979703 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:68558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Juvenile myoclonic epilepsy PMID:10762541|PMID:25741868|PMID:26467025|PMID:28492532 11979703 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:630 genetic disease ISO RGD:68558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 11979703 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:9001793 Generalized Epilepsy ISO RGD:68558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10762541 11979703 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:9001793 Generalized Epilepsy ISO RGD:68558 D RGD:9068941 20200609 RGD PMID:10762541|REF_RGD_ID:734674 11979703 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:9004866 Ataxia ISO RGD:68558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10762541 11979703 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:963 episodic ataxia ISO RGD:68558 D RGD:8554872 20220628 ClinVar ClinVar Annotator: match by term: Hereditary episodic ataxia 11979734 TNC tenascin C gene DOID:0080322 polycystic kidney disease ISO RGD:621057 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:15565633|REF_RGD_ID:4889614 11979734 TNC tenascin C gene DOID:0110581 autosomal dominant nonsyndromic deafness 56 ISO RGD:1354144 D RGD:7240710 20180130 OMIM 11979734 TNC tenascin C gene DOID:0110581 autosomal dominant nonsyndromic deafness 56 ISO RGD:1354144 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 56 PMID:21681106|PMID:23936043|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29531218|PMID:30311386|PMID:31190668 11979734 TNC tenascin C gene DOID:10003 sensorineural hearing loss ISO RGD:1354144 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:25741868 11979734 TNC tenascin C gene DOID:10320 asbestosis ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:pleura PMID:10950882|REF_RGD_ID:4889594 11979734 TNC tenascin C gene DOID:106 pleural tuberculosis ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:pleura PMID:10950882|REF_RGD_ID:4889594 11979734 TNC tenascin C gene DOID:11204 allergic conjunctivitis ISO RGD:1354144 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:18305139|REF_RGD_ID:4889589 11979734 TNC tenascin C gene DOID:11830 myopia ISO RGD:1354144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868 11979734 TNC tenascin C gene DOID:13100 intracranial vasospasm ISO RGD:1354144 D RGD:9068941 20200609 RGD associated with Subarachnoid Hemorrhage;protein:increased expression:serum PMID:19589197|REF_RGD_ID:4889600 11979734 TNC tenascin C gene DOID:1324 lung cancer ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:16928692|REF_RGD_ID:4889612 11979734 TNC tenascin C gene DOID:13406 pulmonary sarcoidosis ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:9780295|REF_RGD_ID:4889595 11979734 TNC tenascin C gene DOID:1532 pleural disease ISO RGD:1354144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10950882 11979734 TNC tenascin C gene DOID:1909 melanoma ISO RGD:1354144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842228 11979734 TNC tenascin C gene DOID:2841 asthma ISO RGD:1354144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16115819 11979734 TNC tenascin C gene DOID:2841 asthma ISO RGD:1354144 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.L1677I (human) PMID:16115819|REF_RGD_ID:4889569 11979734 TNC tenascin C gene DOID:2841 asthma ISO RGD:1354144 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:18305139|REF_RGD_ID:4889589 11979734 TNC tenascin C gene DOID:2841 asthma ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:bronchus basement membrane PMID:9310019|REF_RGD_ID:4889572 11979734 TNC tenascin C gene DOID:2841 asthma ISO RGD:1615156 D RGD:9068941 20200609 RGD PMID:17125141|REF_RGD_ID:4889565 11979734 TNC tenascin C gene DOID:289 endometriosis ISO RGD:1354144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11979734 TNC tenascin C gene DOID:3068 glioblastoma ISO RGD:1354144 D RGD:9068941 20200609 RGD PMID:16928692|REF_RGD_ID:4889612 11979734 TNC tenascin C gene DOID:3070 high grade glioma ISO RGD:621057 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:16928692|REF_RGD_ID:4889612 11979734 TNC tenascin C gene DOID:3798 pleural empyema ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:pleura PMID:10950882|REF_RGD_ID:4889594 11979734 TNC tenascin C gene DOID:4947 cholangiocarcinoma severity ISO RGD:621057 D RGD:9068941 20200609 RGD PMID:20816680|REF_RGD_ID:4889598 11979734 TNC tenascin C gene DOID:552 pneumonia ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:serum, respiratory system fluid/secretion PMID:19721293|REF_RGD_ID:4889573 11979734 TNC tenascin C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1354144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11979734 TNC tenascin C gene DOID:5844 myocardial infarction ISO RGD:621057 D RGD:9068941 20200609 RGD protein:increased expression:heart, fibroblast PMID:11454990|REF_RGD_ID:4889618 11979734 TNC tenascin C gene DOID:630 genetic disease ISO RGD:1354144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30311386 11979734 TNC tenascin C gene DOID:6432 pulmonary hypertension ISO RGD:1354144 D RGD:9068941 20200609 RGD PMID:16782755|REF_RGD_ID:4889567 11979734 TNC tenascin C gene DOID:6432 pulmonary hypertension ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20528622|REF_RGD_ID:4889562 11979734 TNC tenascin C gene DOID:6432 pulmonary hypertension ISO RGD:621057 D RGD:9068941 20200609 RGD PMID:15879421|REF_RGD_ID:4889570 11979734 TNC tenascin C gene DOID:6432 pulmonary hypertension severity ISO RGD:621057 D RGD:9068941 20200609 RGD PMID:19288153|REF_RGD_ID:4889564 11979734 TNC tenascin C gene DOID:799 varicose veins ISO RGD:1354144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17643059 11979734 TNC tenascin C gene DOID:841 extrinsic allergic alveolitis ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:9780295|REF_RGD_ID:4889595 11979734 TNC tenascin C gene DOID:850 lung disease ISO RGD:10271 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:16690978|REF_RGD_ID:4889568 11979734 TNC tenascin C gene DOID:850 lung disease ISO RGD:1615156 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:20833777|REF_RGD_ID:4889561 11979734 TNC tenascin C gene DOID:9000039 Spinal Cord Injuries ISO RGD:621057 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:11085900|REF_RGD_ID:4889619 11979734 TNC tenascin C gene DOID:9000310 Lung Injury ISO RGD:1354144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18978301 11979734 TNC tenascin C gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:621057 D RGD:9068941 20200609 RGD protein:increased expression:basilar artery PMID:19589197|REF_RGD_ID:4889600 11979734 TNC tenascin C gene DOID:9000965 Neoplasm Metastasis ISO RGD:1354144 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell;protein:increased expression:lung PMID:16928692|REF_RGD_ID:4889612 11979734 TNC tenascin C gene DOID:9001472 Nasal Polyps ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity epithelium PMID:12916355|REF_RGD_ID:4889591 11979734 TNC tenascin C gene DOID:9003566 Mesothelioma ISO RGD:1354144 D RGD:9068941 20200609 RGD PMID:16928692|REF_RGD_ID:4889612 11979734 TNC tenascin C gene DOID:9003566 Mesothelioma disease_progression ISO RGD:1354144 D RGD:9068941 20200609 RGD PMID:12605648|REF_RGD_ID:4889571 11979734 TNC tenascin C gene DOID:9004538 Hearing Loss ISO RGD:1354144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 11979734 TNC tenascin C gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621057 D RGD:9068941 20200609 RGD PMID:17999372|REF_RGD_ID:4889609 11979734 TNC tenascin C gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1354144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 11979734 TNC tenascin C gene DOID:9007480 Hyperoxia ISO RGD:1615156 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:17001473|REF_RGD_ID:4889566 11979734 TNC tenascin C gene DOID:9007736 Vertigo ISO RGD:1354144 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Vertigo PMID:25741868 11979734 TNC tenascin C gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:621057 D RGD:9068941 20200609 RGD PMID:20554738|REF_RGD_ID:4889599 11979780 SPATA31F1 SPATA31 subfamily F member 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:5477831 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11979780 SPATA31F1 SPATA31 subfamily F member 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:5477831 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11979780 SPATA31F1 SPATA31 subfamily F member 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:5477831 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11979780 SPATA31F1 SPATA31 subfamily F member 1 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:5477831 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11979780 SPATA31F1 SPATA31 subfamily F member 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:5477831 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11979780 SPATA31F1 SPATA31 subfamily F member 1 gene DOID:630 genetic disease ISO RGD:5477831 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11979780 SPATA31F1 SPATA31 subfamily F member 1 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:5477831 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11979780 SPATA31F1 SPATA31 subfamily F member 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:5477831 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11979780 SPATA31F1 SPATA31 subfamily F member 1 gene DOID:9870 galactosemia ISO RGD:5477831 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11979787 CNOT3 CCR4-NOT transcription complex subunit 3 gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:1312407 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:25741868 11979787 CNOT3 CCR4-NOT transcription complex subunit 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1312407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11979787 CNOT3 CCR4-NOT transcription complex subunit 3 gene DOID:1059 intellectual disability ISO RGD:1312407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11979787 CNOT3 CCR4-NOT transcription complex subunit 3 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1312407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23263491 11979787 CNOT3 CCR4-NOT transcription complex subunit 3 gene DOID:630 genetic disease ISO RGD:1312407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28518168|PMID:31474762|PMID:32461654 11979787 CNOT3 CCR4-NOT transcription complex subunit 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475|PMID:29662167 11979787 CNOT3 CCR4-NOT transcription complex subunit 3 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1312407 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:25741868 11979787 CNOT3 CCR4-NOT transcription complex subunit 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1312407 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11979787 CNOT3 CCR4-NOT transcription complex subunit 3 gene DOID:9008787 Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies ISO RGD:1312407 D RGD:7240710 20200115 OMIM 11979787 CNOT3 CCR4-NOT transcription complex subunit 3 gene DOID:9008787 Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies ISO RGD:1312407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies PMID:25741868|PMID:28492532|PMID:31201375|PMID:32720325 11979821 LOC100980037 olfactory receptor 1C1 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1350511 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11979821 LOC100980037 olfactory receptor 1C1 gene DOID:1540 parathyroid carcinoma ISO RGD:1350511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11979821 LOC100980037 olfactory receptor 1C1 gene DOID:630 genetic disease ISO RGD:1350511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11979821 LOC100980037 olfactory receptor 1C1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11979821 LOC100980037 olfactory receptor 1C1 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1350511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome PMID:28492532 11979821 LOC100980037 olfactory receptor 1C1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11979827 CLVS2 clavesin 2 gene DOID:1826 epilepsy ISO RGD:1604529 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11979827 CLVS2 clavesin 2 gene DOID:630 genetic disease ISO RGD:1604529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11979837 IDS iduronate 2-sulfatase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11979837 IDS iduronate 2-sulfatase gene DOID:0080125 mitochondrial DNA depletion syndrome 6 ISO RGD:1351665 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Navajo neurohepatopathy PMID:25741868 11979837 IDS iduronate 2-sulfatase gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1351665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:1303211|PMID:1550586|PMID:18414213|PMID:18500569|PMID:19573456|PMID:21291454|PMID:21829674|PMID:22976768|PMID:22976778|PMID:24515576|PMID:25741868|PMID:27146977|PMID:27848944|PMID:28492532|PMID:29801497|PMID:31877959|PMID:8318991 11979837 IDS iduronate 2-sulfatase gene DOID:12799 mucopolysaccharidosis II ISO RGD:1351665 D RGD:7240710 20180130 OMIM 11979837 IDS iduronate 2-sulfatase gene DOID:12799 mucopolysaccharidosis II ISO RGD:1351665 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II | ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, mild form | ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, severe form PMID:10215411|PMID:10220152|PMID:10671065|PMID:10738003|PMID:10814710|PMID:10838181|PMID:11452244|PMID:11462244|PMID:11683780|PMID:11731225|PMID:12572848|PMID:1284597|PMID:1303211|PMID:1355630|PMID:14728992|PMID:1550586|PMID:15614569|PMID:16133661|PMID:16199547|PMID:1639384|PMID:16480701|PMID:16495038|PMID:17063374|PMID:17091340|PMID:17284421|PMID:17343270|PMID:17391447|PMID:17576681|PMID:17655837|PMID:18414213|PMID:18500569|PMID:1906048|PMID:19573456|PMID:20104590|PMID:20301451|PMID:21291454|PMID:21639919|PMID:21829674|PMID:22153556|PMID:22190500|PMID:22286622|PMID:22492741|PMID:22912587|PMID:22976768|PMID:22976778|PMID:22990955|PMID:23430829|PMID:24125893|PMID:24268528|PMID:24515576|PMID:24780617|PMID:24875751|PMID:25038527|PMID:25640679|PMID:25681085|PMID:25741868|PMID:25976201|PMID:26407519|PMID:26693516|PMID:26752647|PMID:26762690|PMID:27146977|PMID:27246110|PMID:27351199|PMID:27848944|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28492532|PMID:28543354|PMID:28593992|PMID:29801497|PMID:30409495|PMID:30639582|PMID:30755392|PMID:30809705|PMID:31732130|PMID:31877959|PMID:32005694|PMID:32014045|PMID:33075783|PMID:33096603|PMID:33117908|PMID:33124617|PMID:33622387|PMID:33676511|PMID:34670126|PMID:35144014|PMID:35242576|PMID:7581397|PMID:7728156|PMID:7814022|PMID:7866405|PMID:7887413|PMID:8111411|PMID:8318991|PMID:8364592|PMID:8664909|PMID:8807335|PMID:8829647|PMID:8829661|PMID:8830188|PMID:8940265|PMID:9222763|PMID:9266380|PMID:9375851|PMID:9501270|PMID:9536098|PMID:9573369|PMID:9660053|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361 11979837 IDS iduronate 2-sulfatase gene DOID:12801 mucopolysaccharidosis III ISO RGD:1351665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency PMID:1303211|PMID:1550586|PMID:18414213|PMID:18500569|PMID:21291454|PMID:21829674|PMID:25741868|PMID:27146977|PMID:28492532|PMID:8318991 11979837 IDS iduronate 2-sulfatase gene DOID:12849 autistic disorder ISO RGD:1351665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11979837 IDS iduronate 2-sulfatase gene DOID:630 genetic disease ISO RGD:1351665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10215411|PMID:10671065|PMID:1639384|PMID:16495038|PMID:17063374|PMID:17091340|PMID:18414213|PMID:19573456|PMID:21291454|PMID:21639919|PMID:21829674|PMID:22286622|PMID:22976768|PMID:22976778|PMID:24125893|PMID:24515576|PMID:24780617|PMID:25741868|PMID:26407519|PMID:27246110|PMID:27883178|PMID:28077157|PMID:28492532|PMID:29801497|PMID:31877959|PMID:7728156|PMID:7887413|PMID:8940265|PMID:9501270|PMID:9573369|PMID:9875019|PMID:9950361 11979837 IDS iduronate 2-sulfatase gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:1351665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy 11979837 IDS iduronate 2-sulfatase gene DOID:9005172 Lung Neoplasms ISO RGD:1351665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 11979837 IDS iduronate 2-sulfatase gene DOID:9008086 Developmental Disabilities ISO RGD:1351665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:30755392|PMID:34670126 11979871 SACS sacsin molecular chaperone gene DOID:0050942 spastic ataxia 3 ISO RGD:1316383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive spastic ataxia PMID:20876471|PMID:21450511|PMID:24033266|PMID:24180463|PMID:25741868 11979871 SACS sacsin molecular chaperone gene DOID:0050946 Charlevoix-Saguenay spastic ataxia ISO RGD:1316383 D RGD:7240710 20180130 OMIM 11979871 SACS sacsin molecular chaperone gene DOID:0050946 Charlevoix-Saguenay spastic ataxia ISO RGD:1316383 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia PMID:10053011|PMID:10610707|PMID:10655055|PMID:11788093|PMID:12873855|PMID:14718706|PMID:14718707|PMID:14718708|PMID:15156359|PMID:15486997|PMID:15985586|PMID:16007637|PMID:16198375|PMID:16606928|PMID:16944349|PMID:16961075|PMID:17516465|PMID:17576681|PMID:18414213|PMID:18439928|PMID:18465152|PMID:18484239|PMID:18569450|PMID:18604465|PMID:19208651|PMID:19779133|PMID:19892370|PMID:20301432|PMID:20368637|PMID:20798953|PMID:20852969|PMID:20876471|PMID:21410841|PMID:21450511|PMID:21507954|PMID:21665375|PMID:21745802|PMID:21993619|PMID:22287014|PMID:22307627|PMID:22751902|PMID:22816526|PMID:22892508|PMID:23043354|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23338241|PMID:23497566|PMID:23598833|PMID:24033266|PMID:24108619|PMID:24180463|PMID:24318559|PMID:24384335|PMID:24457356|PMID:25237835|PMID:25260547|PMID:25326637|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25819952|PMID:25887915|PMID:26010040|PMID:26068213|PMID:26288984|PMID:26302956|PMID:26366743|PMID:26410750|PMID:26467025|PMID:26530509|PMID:26539891|PMID:27133561|PMID:27142713|PMID:27217339|PMID:27288452|PMID:27391121|PMID:27433545|PMID:27871429|PMID:27980752|PMID:28251916|PMID:28362824|PMID:28454995|PMID:28491899|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:28972115|PMID:29220673|PMID:29277257|PMID:29379980|PMID:29389947|PMID:29417091|PMID:29453517|PMID:29482223|PMID:29538656|PMID:29858556|PMID:29915382|PMID:29945973|PMID:29968200|PMID:30271475|PMID:30460542|PMID:30638817|PMID:30901567|PMID:31429931|PMID:31475473|PMID:31493945|PMID:31637422|PMID:31673878|PMID:31692161|PMID:31980526|PMID:32140197|PMID:32488064|PMID:32606552|PMID:33624863|PMID:33746006|PMID:34600502|PMID:34758253|PMID:35578252|PMID:35731353|PMID:9536098|PMID:9892370 11979871 SACS sacsin molecular chaperone gene DOID:0050951 hereditary ataxia ISO RGD:1316383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary ataxia PMID:19892370|PMID:23250129|PMID:23280630|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30901567 11979871 SACS sacsin molecular chaperone gene DOID:0050952 spastic ataxia ISO RGD:1316383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:26467025|PMID:28492532 11979871 SACS sacsin molecular chaperone gene DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 ISO RGD:1316383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 PMID:18465152|PMID:20876471|PMID:25741868|PMID:28492532 11979871 SACS sacsin molecular chaperone gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1316383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 11979871 SACS sacsin molecular chaperone gene DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C ISO RGD:1316383 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2C PMID:18285821|PMID:18398442|PMID:18414213|PMID:19031088|PMID:19208398|PMID:24033266|PMID:24180463|PMID:25741868|PMID:26467025|PMID:28492532 11979871 SACS sacsin molecular chaperone gene DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D ISO RGD:1316383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sarcoglycanopathy PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 11979871 SACS sacsin molecular chaperone gene DOID:1826 epilepsy ISO RGD:1316383 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11979871 SACS sacsin molecular chaperone gene DOID:2476 hereditary spastic paraplegia ISO RGD:1316383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:10610707|PMID:10655055|PMID:11788093|PMID:14718706|PMID:15156359|PMID:18414213|PMID:18465152|PMID:19779133|PMID:19892370|PMID:20301432|PMID:20852969|PMID:20876471|PMID:21507954|PMID:21745802|PMID:22287014|PMID:22307627|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23497566|PMID:24108619|PMID:24457356|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25887915|PMID:26302956|PMID:26410750|PMID:26467025|PMID:26539891|PMID:27433545|PMID:27980752|PMID:28251916|PMID:28454995|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:29220673|PMID:29379980|PMID:29449188|PMID:29482223|PMID:29538656|PMID:29915382|PMID:30680480|PMID:31637422|PMID:31673878|PMID:33624863 11979871 SACS sacsin molecular chaperone gene DOID:2476 hereditary spastic paraplegia ISO RGD:1316383 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:10610707|PMID:10655055|PMID:11788093|PMID:14718706|PMID:15156359|PMID:18414213|PMID:18465152|PMID:19779133|PMID:20301432|PMID:20852969|PMID:20876471|PMID:21507954|PMID:22287014|PMID:22307627|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23497566|PMID:24108619|PMID:24457356|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25887915|PMID:26302956|PMID:26410750|PMID:26467025|PMID:26539891|PMID:27433545|PMID:27980752|PMID:28251916|PMID:28454995|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:29220673|PMID:29379980|PMID:29449188|PMID:29482223|PMID:29538656|PMID:29915382|PMID:30460542|PMID:30638817|PMID:30680480|PMID:30901567|PMID:31637422|PMID:31673878|PMID:33624863 11979871 SACS sacsin molecular chaperone gene DOID:2476 hereditary spastic paraplegia ISO RGD:1316383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:10610707|PMID:10655055|PMID:11788093|PMID:14718706|PMID:15156359|PMID:18414213|PMID:18465152|PMID:19779133|PMID:19892370|PMID:20301432|PMID:20852969|PMID:20876471|PMID:21507954|PMID:21745802|PMID:22287014|PMID:22307627|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23497566|PMID:24108619|PMID:24457356|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25887915|PMID:26302956|PMID:26410750|PMID:26467025|PMID:26539891|PMID:27288452|PMID:27433545|PMID:27871429|PMID:27980752|PMID:28251916|PMID:28454995|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:29220673|PMID:29379980|PMID:29449188|PMID:29482223|PMID:29538656|PMID:29915382|PMID:30271475|PMID:30460542|PMID:30638817|PMID:30901567|PMID:31637422|PMID:31673878|PMID:33624863 11979871 SACS sacsin molecular chaperone gene DOID:2476 hereditary spastic paraplegia ISO RGD:1316383 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia PMID:10610707|PMID:10655055|PMID:11788093|PMID:14718706|PMID:15156359|PMID:18414213|PMID:18465152|PMID:19779133|PMID:19892370|PMID:20301432|PMID:20852969|PMID:20876471|PMID:21507954|PMID:21745802|PMID:22287014|PMID:22307627|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23497566|PMID:24108619|PMID:24457356|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25887915|PMID:26302956|PMID:26410750|PMID:26467025|PMID:26539891|PMID:27288452|PMID:27433545|PMID:27871429|PMID:27980752|PMID:28251916|PMID:28454995|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:29220673|PMID:29379980|PMID:29449188|PMID:29482223|PMID:29538656|PMID:29915382|PMID:30271475|PMID:30460542|PMID:30638817|PMID:30901567|PMID:31637422|PMID:31673878|PMID:33624863|PMID:34600502 11979871 SACS sacsin molecular chaperone gene DOID:2661 myoepithelioma ISO RGD:1316383 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11979871 SACS sacsin molecular chaperone gene DOID:5419 schizophrenia ISO RGD:1316383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11979871 SACS sacsin molecular chaperone gene DOID:607 paraplegia ISO RGD:1316383 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10053011|PMID:10610707|PMID:10655055|PMID:11788093|PMID:12873855|PMID:14718706|PMID:14718707|PMID:15156359|PMID:15486997|PMID:16007637|PMID:16198375|PMID:16199547|PMID:16944349|PMID:17290461|PMID:17516465|PMID:17576681|PMID:18285821|PMID:18398442|PMID:18414213|PMID:18439928|PMID:18465152|PMID:18604465|PMID:19031088|PMID:19208398|PMID:19208651|PMID:19763152|PMID:19779133|PMID:19892370|PMID:20301432|PMID:20307669|PMID:20368637|PMID:20798953|PMID:20852969|PMID:20876471|PMID:21410841|PMID:21416271|PMID:21507954|PMID:21665375|PMID:21745802|PMID:21993619|PMID:22287014|PMID:22307627|PMID:22406018|PMID:22816526|PMID:23043354|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23338241|PMID:23497566|PMID:23785480|PMID:24033266|PMID:24108619|PMID:24164681|PMID:24180463|PMID:24457356|PMID:25260547|PMID:25326637|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25819952|PMID:25887915|PMID:26068213|PMID:26288984|PMID:26302956|PMID:26366743|PMID:26410750|PMID:26467025|PMID:26530509|PMID:26539891|PMID:27133561|PMID:27142713|PMID:27217339|PMID:27288452|PMID:27391121|PMID:27433545|PMID:27600236|PMID:27871429|PMID:27980752|PMID:28251916|PMID:28330790|PMID:28454995|PMID:28491899|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:28972115|PMID:29093530|PMID:29220673|PMID:29277257|PMID:29321516|PMID:29379980|PMID:29389947|PMID:29417091|PMID:29449188|PMID:29453517|PMID:29482223|PMID:29538656|PMID:29858556|PMID:29915382|PMID:29945973|PMID:29968200|PMID:30271475|PMID:30460542|PMID:30638817|PMID:30901567|PMID:31230722|PMID:31429931|PMID:31475473|PMID:31493945|PMID:31637422|PMID:31673878|PMID:31692161|PMID:31980526|PMID:32140197|PMID:32488064|PMID:32581362|PMID:32606552|PMID:33414805|PMID:33624863|PMID:33746006|PMID:34600502|PMID:34758253|PMID:35578252|PMID:35731353|PMID:9536098|PMID:9892370 11979871 SACS sacsin molecular chaperone gene DOID:630 genetic disease ISO RGD:1316383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15156359|PMID:18465152|PMID:19779133|PMID:19892370|PMID:20488193|PMID:21507954|PMID:21745802|PMID:23123642|PMID:23280630|PMID:23497566|PMID:24108619|PMID:25741868|PMID:25819952|PMID:26288984|PMID:26467025|PMID:27288452|PMID:28491899|PMID:28492532|PMID:28658401|PMID:29538656|PMID:29915382|PMID:31493945|PMID:33624863|PMID:33746006|PMID:35578252 11979871 SACS sacsin molecular chaperone gene DOID:891 progressive myoclonus epilepsy ISO RGD:1316383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 11979871 SACS sacsin molecular chaperone gene DOID:9009163 ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION ISO RGD:1316383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation PMID:15156359|PMID:21507954|PMID:25741868|PMID:28492532|PMID:30460542|PMID:31692161 11979871 SACS sacsin molecular chaperone gene DOID:9277 primary cerebellar degeneration ISO RGD:1316383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary ataxia PMID:19892370|PMID:23250129|PMID:23280630|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30901567 11979882 ZNF667 zinc finger protein 667 gene DOID:630 genetic disease ISO RGD:1603200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11979905 PTAFR platelet activating factor receptor gene DOID:10247 pleurisy treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:8395390|REF_RGD_ID:10043147 11979905 PTAFR platelet activating factor receptor gene DOID:11446 sciatic neuropathy ISO RGD:61897 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord, microglia (rat) PMID:22296727|REF_RGD_ID:9999207 11979905 PTAFR platelet activating factor receptor gene DOID:11612 polycystic ovary syndrome ISO RGD:733075 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11979905 PTAFR platelet activating factor receptor gene DOID:1227 neutropenia treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:3011900|REF_RGD_ID:10043179 11979905 PTAFR platelet activating factor receptor gene DOID:224 transient cerebral ischemia ISO RGD:61897 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex (rat) PMID:17268849|REF_RGD_ID:9999221 11979905 PTAFR platelet activating factor receptor gene DOID:224 transient cerebral ischemia treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:8158141|REF_RGD_ID:10043297 11979905 PTAFR platelet activating factor receptor gene DOID:2921 glomerulonephritis treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:1668710|REF_RGD_ID:10041057 11979905 PTAFR platelet activating factor receptor gene DOID:3021 acute kidney failure treatment ISO RGD:61897 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:2538527|REF_RGD_ID:10043182 11979905 PTAFR platelet activating factor receptor gene DOID:6195 conjunctivitis ISO RGD:61897 D RGD:9068941 20200609 RGD protein:increased expression:conjunctiva, eosinophil (rat) PMID:15735601|REF_RGD_ID:9999205 11979905 PTAFR platelet activating factor receptor gene DOID:630 genetic disease ISO RGD:733075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11979905 PTAFR platelet activating factor receptor gene DOID:8677 perinatal necrotizing enterocolitis treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:17515866|REF_RGD_ID:9999208 11979905 PTAFR platelet activating factor receptor gene DOID:8778 Crohn's disease ISO RGD:733075 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 11979905 PTAFR platelet activating factor receptor gene DOID:9000728 Traumatic Shock treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:2165204|REF_RGD_ID:10043180 11979905 PTAFR platelet activating factor receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733075 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11979905 PTAFR platelet activating factor receptor gene DOID:9002211 Hyperalgesia treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:16925995|REF_RGD_ID:10041052 11979905 PTAFR platelet activating factor receptor gene DOID:9002906 Multiple Organ Failure treatment ISO RGD:61897 D RGD:9068941 20200609 RGD associated with Pancreatitis, Experimental PMID:9750012|REF_RGD_ID:10043149 11979905 PTAFR platelet activating factor receptor gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:12356842|REF_RGD_ID:10041062 11979905 PTAFR platelet activating factor receptor gene DOID:9004009 Reperfusion Injury ISO RGD:62190 D RGD:9068941 20200609 RGD PMID:12812996|REF_RGD_ID:1581279 11979905 PTAFR platelet activating factor receptor gene DOID:9004009 Reperfusion Injury treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:11139461|REF_RGD_ID:10043168 11979905 PTAFR platelet activating factor receptor gene DOID:9004590 Acute Liver Failure ISO RGD:61897 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:11414308|REF_RGD_ID:10043144 11979905 PTAFR platelet activating factor receptor gene DOID:9005930 Endotoxemia treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:2178565|REF_RGD_ID:10041063 11979905 PTAFR platelet activating factor receptor gene DOID:9006024 Hypotension treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:3011900|REF_RGD_ID:10043179 11979905 PTAFR platelet activating factor receptor gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:21633536|REF_RGD_ID:9999225 11979905 PTAFR platelet activating factor receptor gene DOID:9008232 Neutrophilia treatment ISO RGD:61897 D RGD:9068941 20200609 RGD associated with Scorpion Stings PMID:10770284|REF_RGD_ID:10043145 11979905 PTAFR platelet activating factor receptor gene DOID:9008821 Otitis Media with Effusion treatment ISO RGD:8944602 D RGD:9068941 20200609 RGD PMID:14759570|REF_RGD_ID:11554333 11979927 EDNRB endothelin receptor type B gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:736090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness PMID:16944573|PMID:18162831|PMID:25741868|PMID:30303587|PMID:32747562 11979927 EDNRB endothelin receptor type B gene DOID:0050600 ABCD syndrome ISO RGD:736090 D RGD:7240710 20230517 OMIM 11979927 EDNRB endothelin receptor type B gene DOID:0050600 ABCD syndrome ISO RGD:736090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ABCD syndrome PMID:10528251|PMID:11891690|PMID:20127975|PMID:24033266|PMID:25741868|PMID:26100139|PMID:26467025|PMID:28492532|PMID:30394532|PMID:7778600|PMID:8001159 11979927 EDNRB endothelin receptor type B gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:736090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11979927 EDNRB endothelin receptor type B gene DOID:0080130 mitochondrial DNA depletion syndrome 12a ISO RGD:736090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant PMID:10090908|PMID:10874640|PMID:16145050|PMID:16954478|PMID:19320733|PMID:20009762|PMID:21507037|PMID:22993632|PMID:22995991|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28492532|PMID:29407415|PMID:8852659 11979927 EDNRB endothelin receptor type B gene DOID:0110950 Waardenburg syndrome type 2A ISO RGD:736090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 2A PMID:10090908|PMID:10874640|PMID:16145050|PMID:16954478|PMID:19320733|PMID:20009762|PMID:21507037|PMID:22993632|PMID:22995991|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28492532|PMID:29407415|PMID:8852659 11979927 EDNRB endothelin receptor type B gene DOID:0110953 Waardenburg syndrome type 4A ISO RGD:736090 D RGD:7240710 20230517 OMIM 11979927 EDNRB endothelin receptor type B gene DOID:0110953 Waardenburg syndrome type 4A ISO RGD:736090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 4A PMID:10090908|PMID:10458491|PMID:10528251|PMID:10664228|PMID:10874640|PMID:11891690|PMID:14633923|PMID:16145050|PMID:16944573|PMID:16954478|PMID:17011274|PMID:18162831|PMID:19320733|PMID:20009762|PMID:20127975|PMID:21507037|PMID:22993632|PMID:22995991|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28492532|PMID:29407415|PMID:30303587|PMID:30311386|PMID:30394532|PMID:32747562|PMID:7778600|PMID:8001158|PMID:8001159|PMID:8634719|PMID:8852659|PMID:8852660 11979927 EDNRB endothelin receptor type B gene DOID:10003 sensorineural hearing loss ISO RGD:2536 D RGD:9068941 20200609 RGD DNA:mutation:cds: PMID:21915282|REF_RGD_ID:6480217 11979927 EDNRB endothelin receptor type B gene DOID:10487 Hirschsprung's disease ISO RGD:736090 D RGD:7240710 20230517 OMIM 11979927 EDNRB endothelin receptor type B gene DOID:10487 Hirschsprung's disease ISO RGD:736090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Recessive | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 PMID:10090908|PMID:10458491|PMID:10664228|PMID:10874640|PMID:12628594|PMID:14633923|PMID:16145050|PMID:16518596|PMID:16944573|PMID:16954478|PMID:17011274|PMID:17223014|PMID:17618893|PMID:18162831|PMID:18633623|PMID:18758497|PMID:19320733|PMID:20009762|PMID:21507037|PMID:22993632|PMID:22995991|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27535533|PMID:27639823|PMID:28492532|PMID:29407415|PMID:30218169|PMID:30303587|PMID:32747562|PMID:8001158|PMID:8852658|PMID:8852659|PMID:8852660|PMID:9359036|PMID:9760196 11979927 EDNRB endothelin receptor type B gene DOID:10487 Hirschsprung's disease treatment ISO RGD:2536 D RGD:9068941 20200609 RGD PMID:9739043|REF_RGD_ID:628516 11979927 EDNRB endothelin receptor type B gene DOID:10762 portal hypertension ISO RGD:2536 D RGD:9068941 20200609 RGD PMID:17214938|REF_RGD_ID:4892595 11979927 EDNRB endothelin receptor type B gene DOID:10763 hypertension ISO RGD:2536 D RGD:9068941 20200609 RGD PMID:10749572|REF_RGD_ID:628518 11979927 EDNRB endothelin receptor type B gene DOID:10763 hypertension ISO RGD:2536 D RGD:9068941 20200609 RGD associated with Uremia PMID:20144075|REF_RGD_ID:4892284 11979927 EDNRB endothelin receptor type B gene DOID:11372 megacolon ISO RGD:2536 D RGD:9068941 20200609 RGD PMID:8570650|REF_RGD_ID:628515 11979927 EDNRB endothelin receptor type B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736090 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10528251|PMID:20127975|PMID:20157158|PMID:22589734|PMID:28492532|PMID:30394532|PMID:31406620|PMID:32393339|PMID:8001159 11979927 EDNRB endothelin receptor type B gene DOID:2527 nephrosis ISO RGD:736090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7756592 11979927 EDNRB endothelin receptor type B gene DOID:2841 asthma ISO RGD:10505 D RGD:9068941 20200609 RGD PMID:18632188|REF_RGD_ID:4892288 11979927 EDNRB endothelin receptor type B gene DOID:2841 asthma ISO RGD:2536 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchus, smooth muscle cell PMID:15245576|REF_RGD_ID:4892324 11979927 EDNRB endothelin receptor type B gene DOID:2841 asthma ISO RGD:736090 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:17470272|REF_RGD_ID:4892321 11979927 EDNRB endothelin receptor type B gene DOID:5844 myocardial infarction ISO RGD:2536 D RGD:9068941 20200609 RGD PMID:12524016|REF_RGD_ID:1580948 11979927 EDNRB endothelin receptor type B gene DOID:6000 congestive heart failure ISO RGD:736090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28095452 11979927 EDNRB endothelin receptor type B gene DOID:614 lymphopenia ISO RGD:2536 D RGD:9068941 20200609 RGD PMID:22975636|REF_RGD_ID:7207471 11979927 EDNRB endothelin receptor type B gene DOID:630 genetic disease ISO RGD:736090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 11979927 EDNRB endothelin receptor type B gene DOID:6432 pulmonary hypertension ISO RGD:2536 D RGD:9068941 20200609 RGD PMID:15243299|PMID:18091567|REF_RGD_ID:1580949|REF_RGD_ID:4892289 11979927 EDNRB endothelin receptor type B gene DOID:6432 pulmonary hypertension ISO RGD:736090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15927975 11979927 EDNRB endothelin receptor type B gene DOID:6432 pulmonary hypertension ISO RGD:736090 D RGD:9068941 20200609 RGD PMID:20562228|REF_RGD_ID:4144877 11979927 EDNRB endothelin receptor type B gene DOID:900 hepatopulmonary syndrome ISO RGD:2536 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:17110505|REF_RGD_ID:4892290 11979927 EDNRB endothelin receptor type B gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:736090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8587695 11979927 EDNRB endothelin receptor type B gene DOID:9003546 Total Intestinal Aganglionosis ISO RGD:736090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionosis, total intestinal PMID:16944573|PMID:18162831|PMID:25741868|PMID:30303587|PMID:32747562 11979927 EDNRB endothelin receptor type B gene DOID:9004009 Reperfusion Injury ISO RGD:2536 D RGD:9068941 20200609 RGD PMID:18722366|REF_RGD_ID:4892577 11979927 EDNRB endothelin receptor type B gene DOID:9004538 Hearing Loss ISO RGD:736090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:16944573|PMID:18162831|PMID:25741868|PMID:30303587|PMID:30311386|PMID:32747562 11979927 EDNRB endothelin receptor type B gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 11979927 EDNRB endothelin receptor type B gene DOID:9005027 Waardenburg Syndrome Type 4 ISO RGD:736090 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease with pigmentary anomaly PMID:16944573|PMID:18162831|PMID:25741868|PMID:30303587|PMID:32747562 11979927 EDNRB endothelin receptor type B gene DOID:9005660 Hypopigmentation ISO RGD:2536 D RGD:9068941 20210219 RGD compared to LE/Hkv.AR-Ednrbsl PMID:26796131|REF_RGD_ID:10755346 11979927 EDNRB endothelin receptor type B gene DOID:9007102 Myocardial Ischemia ISO RGD:736090 D RGD:9068941 20200609 RGD PMID:14729387|REF_RGD_ID:1580946 11979927 EDNRB endothelin receptor type B gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2536 D RGD:9068941 20200609 RGD PMID:21048781|REF_RGD_ID:4892332 11979927 EDNRB endothelin receptor type B gene DOID:9008091 Optic Nerve Injuries ISO RGD:2536 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:18600494|REF_RGD_ID:4892579 11979927 EDNRB endothelin receptor type B gene DOID:9008539 Perinatal Death ISO RGD:2536 D RGD:9068941 20210409 RGD PMID:8570650|REF_RGD_ID:628515 11979927 EDNRB endothelin receptor type B gene DOID:9008939 Breast Neoplasms ISO RGD:736090 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16244791 11979927 EDNRB endothelin receptor type B gene DOID:9009073 Diaphragmatic Hernia ISO RGD:736090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10693666 11979927 EDNRB endothelin receptor type B gene DOID:9258 Waardenburg's syndrome ISO RGD:736090 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 11979927 EDNRB endothelin receptor type B gene DOID:9352 type 2 diabetes mellitus ISO RGD:2536 D RGD:9068941 20200609 RGD PMID:19286964|REF_RGD_ID:2313280 11979927 EDNRB endothelin receptor type B gene DOID:9352 type 2 diabetes mellitus ISO RGD:736090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16387788 11979939 LIN7C lin-7 homolog C, crumbs cell polarity complex component gene DOID:1059 intellectual disability ISO RGD:735828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11979952 KCNA6 potassium voltage-gated channel subfamily A member 6 gene DOID:0050753 cerebellar ataxia ISO RGD:731012 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 11979952 KCNA6 potassium voltage-gated channel subfamily A member 6 gene DOID:0050989 episodic ataxia type 1 ISO RGD:731012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 11979952 KCNA6 potassium voltage-gated channel subfamily A member 6 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:731012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11979952 KCNA6 potassium voltage-gated channel subfamily A member 6 gene DOID:10485 esophageal atresia ISO RGD:731012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 11979952 KCNA6 potassium voltage-gated channel subfamily A member 6 gene DOID:1826 epilepsy ISO RGD:731012 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Generalized-onset seizure PMID:25741868 11979952 KCNA6 potassium voltage-gated channel subfamily A member 6 gene DOID:2234 focal epilepsy ISO RGD:731012 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:25741868 11979952 KCNA6 potassium voltage-gated channel subfamily A member 6 gene DOID:630 genetic disease ISO RGD:731012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11979952 KCNA6 potassium voltage-gated channel subfamily A member 6 gene DOID:9003816 Macrocephaly ISO RGD:731012 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868 11979952 KCNA6 potassium voltage-gated channel subfamily A member 6 gene DOID:9007573 Flatfoot ISO RGD:731012 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: flatfoot PMID:25741868 11979952 KCNA6 potassium voltage-gated channel subfamily A member 6 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:731012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11979952 KCNA6 potassium voltage-gated channel subfamily A member 6 gene DOID:9834 hyperopia ISO RGD:731012 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperopia PMID:25741868 11979965 MON1B MON1 homolog B, secretory trafficking associated gene DOID:0070168 spermatogenic failure 3 ISO RGD:1605088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:28492532|PMID:31479588 11979965 MON1B MON1 homolog B, secretory trafficking associated gene DOID:630 genetic disease ISO RGD:1605088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11979981 ZNF641 zinc finger protein 641 gene DOID:630 genetic disease ISO RGD:1606174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11979994 TRMT1 tRNA methyltransferase 1 gene DOID:0050858 Marshall-Smith syndrome ISO RGD:1601995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marshall-Smith syndrome PMID:20673863|PMID:23495138|PMID:25118028|PMID:25736188|PMID:26927468|PMID:27688808|PMID:28492532|PMID:29184170 11979994 TRMT1 tRNA methyltransferase 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1601995 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532|PMID:29184170 11979994 TRMT1 tRNA methyltransferase 1 gene DOID:0081229 autosomal recessive intellectual developmental disorder 68 ISO RGD:1601995 D RGD:7240710 20200701 OMIM 11979994 TRMT1 tRNA methyltransferase 1 gene DOID:0081229 autosomal recessive intellectual developmental disorder 68 ISO RGD:1601995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 68 PMID:21937992|PMID:25741868|PMID:26308914|PMID:30289604 11979994 TRMT1 tRNA methyltransferase 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1601995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11979994 TRMT1 tRNA methyltransferase 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1601995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11979994 TRMT1 tRNA methyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:1601995 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11979994 TRMT1 tRNA methyltransferase 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1601995 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11979994 TRMT1 tRNA methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1601995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11980002 LOC100990186 cytochrome b-c1 complex subunit 6, mitochondrial gene DOID:630 genetic disease ISO RGD:10045718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980007 MTG1 mitochondrial ribosome associated GTPase 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1603933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11980007 MTG1 mitochondrial ribosome associated GTPase 1 gene DOID:630 genetic disease ISO RGD:1603933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980025 BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2 gene DOID:0112224 chondrodysplasia with joint dislocations gPAPP type ISO RGD:1603038 D RGD:7240710 20180130 OMIM 11980025 BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2 gene DOID:0112224 chondrodysplasia with joint dislocations gPAPP type ISO RGD:1603038 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondrodysplasia with joint dislocations, gPAPP type PMID:21549340|PMID:21834032|PMID:22887726|PMID:25741868|PMID:28492532|PMID:31130284 11980025 BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2 gene DOID:2256 osteochondrodysplasia ISO RGD:1603038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chondrodysplasia 11980025 BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2 gene DOID:630 genetic disease ISO RGD:1603038 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11980034 DPF3 double PHD fingers 3 gene DOID:0060224 atrial fibrillation ISO RGD:1319176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11980034 DPF3 double PHD fingers 3 gene DOID:1059 intellectual disability ISO RGD:1319176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11980034 DPF3 double PHD fingers 3 gene DOID:630 genetic disease ISO RGD:1319176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980052 SSBP1 single stranded DNA binding protein 1 gene DOID:0080690 RASopathy ISO RGD:736464 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 11980052 SSBP1 single stranded DNA binding protein 1 gene DOID:37 skin disease ISO RGD:736464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11980052 SSBP1 single stranded DNA binding protein 1 gene DOID:630 genetic disease ISO RGD:736464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980052 SSBP1 single stranded DNA binding protein 1 gene DOID:9005656 Optic Atrophy 13 ISO RGD:736464 D RGD:7240710 20200930 OMIM 11980052 SSBP1 single stranded DNA binding protein 1 gene DOID:9005656 Optic Atrophy 13 ISO RGD:736464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic atrophy 13 with retinal and foveal abnormalities PMID:25741868|PMID:31298765|PMID:31550237|PMID:31550240 11980052 SSBP1 single stranded DNA binding protein 1 gene DOID:9007964 Arsenic Poisoning ISO RGD:736464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11980052 SSBP1 single stranded DNA binding protein 1 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:736464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 11980083 FAM13B family with sequence similarity 13 member B gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1321412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11980083 FAM13B family with sequence similarity 13 member B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321412 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11980083 FAM13B family with sequence similarity 13 member B gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1321412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 11980083 FAM13B family with sequence similarity 13 member B gene DOID:630 genetic disease ISO RGD:1321412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980083 FAM13B family with sequence similarity 13 member B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11980083 FAM13B family with sequence similarity 13 member B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321412 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11980120 ZCCHC12 zinc finger CCHC-type containing 12 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11980120 ZCCHC12 zinc finger CCHC-type containing 12 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1342670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 11980120 ZCCHC12 zinc finger CCHC-type containing 12 gene DOID:12849 autistic disorder ISO RGD:1342670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11980120 ZCCHC12 zinc finger CCHC-type containing 12 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1342670 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30431698 11980120 ZCCHC12 zinc finger CCHC-type containing 12 gene DOID:630 genetic disease ISO RGD:1342670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980128 UNC119B unc-119 lipid binding chaperone B gene DOID:630 genetic disease ISO RGD:1345863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980137 PNN pinin, desmosome associated protein gene DOID:630 genetic disease ISO RGD:1313105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980137 PNN pinin, desmosome associated protein gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1313105 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11980150 GLS glutaminase gene DOID:0111944 immunodeficiency 31B ISO RGD:736636 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 11980150 GLS glutaminase gene DOID:0112207 developmental and epileptic encephalopathy 71 ISO RGD:736636 D RGD:7240710 20190315 OMIM 11980150 GLS glutaminase gene DOID:0112207 developmental and epileptic encephalopathy 71 ISO RGD:736636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 71 PMID:25741868|PMID:30575854 11980150 GLS glutaminase gene DOID:3319 lymphangioleiomyomatosis ISO RGD:736636 D RGD:9068941 20220630 RGD protein:increased expression:lung (human) PMID:29885404|REF_RGD_ID:152995523 11980150 GLS glutaminase gene DOID:630 genetic disease ISO RGD:736636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980150 GLS glutaminase gene DOID:8398 osteoarthritis ISO RGD:736636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11980150 GLS glutaminase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11980150 GLS glutaminase gene DOID:9001649 Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development ISO RGD:736636 D RGD:7240710 20190315 OMIM 11980150 GLS glutaminase gene DOID:9001649 Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development ISO RGD:736636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development PMID:25741868|PMID:30239721 11980150 GLS glutaminase gene DOID:9003281 Spontaneous Abortions ISO RGD:736636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11980150 GLS glutaminase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11980150 GLS glutaminase gene DOID:9005979 Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine ISO RGD:736636 D RGD:7240710 20190821 OMIM 11980150 GLS glutaminase gene DOID:9005979 Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine ISO RGD:736636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay, progressive ataxia, and elevated glutamine 11980150 GLS glutaminase gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:736636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 11980220 COMP cartilage oligomeric matrix protein gene DOID:0070303 multiple epiphyseal dysplasia 1 ISO RGD:736605 D RGD:7240710 20180130 OMIM 11980220 COMP cartilage oligomeric matrix protein gene DOID:0070303 multiple epiphyseal dysplasia 1 ISO RGD:736605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 1, severe | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1 PMID:10405447|PMID:11968079|PMID:12483304|PMID:12768438|PMID:14684695|PMID:15523498|PMID:15756302|PMID:17133256|PMID:19276170|PMID:21834907|PMID:21922596|PMID:21965141|PMID:23562786|PMID:24595329|PMID:25741868|PMID:27330822|PMID:27432013|PMID:28051032|PMID:28492532|PMID:30138938|PMID:30408610|PMID:32686688|PMID:33030144|PMID:7670471|PMID:7670472|PMID:9021009|PMID:9463320 11980220 COMP cartilage oligomeric matrix protein gene DOID:0080047 pseudoachondroplasia ISO RGD:736605 D RGD:7240710 20180130 OMIM 11980220 COMP cartilage oligomeric matrix protein gene DOID:0080047 pseudoachondroplasia ISO RGD:736605 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome PMID:10405447|PMID:11565064|PMID:11746044|PMID:11746045|PMID:12483304|PMID:12768438|PMID:15756302|PMID:17394206|PMID:17570134|PMID:20936634|PMID:21922596|PMID:21965141|PMID:23956175|PMID:24595329|PMID:25741868|PMID:26377240|PMID:28492532|PMID:30138938|PMID:7670471|PMID:7670472|PMID:9463320|PMID:9632164|PMID:9880218|PMID:9921895 11980220 COMP cartilage oligomeric matrix protein gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:736605 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 11980220 COMP cartilage oligomeric matrix protein gene DOID:12721 multiple epiphyseal dysplasia ISO RGD:736605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia PMID:11565064|PMID:12483304|PMID:14684695|PMID:15756302|PMID:17570134|PMID:21834907|PMID:21965141|PMID:23956175|PMID:24595329|PMID:25741868|PMID:28051032|PMID:28492532|PMID:32686688|PMID:9021009|PMID:9463320 11980220 COMP cartilage oligomeric matrix protein gene DOID:2256 osteochondrodysplasia ISO RGD:736605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia PMID:11565064|PMID:12483304|PMID:14684695|PMID:15756302|PMID:17570134|PMID:21834907|PMID:21965141|PMID:23956175|PMID:24595329|PMID:25741868|PMID:28051032|PMID:28492532|PMID:32686688|PMID:9021009|PMID:9463320 11980220 COMP cartilage oligomeric matrix protein gene DOID:630 genetic disease ISO RGD:736605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15756302|PMID:19276170|PMID:24595329|PMID:25741868|PMID:28492532 11980220 COMP cartilage oligomeric matrix protein gene DOID:65 connective tissue disease ISO RGD:736605 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 11980220 COMP cartilage oligomeric matrix protein gene DOID:8398 osteoarthritis ISO RGD:736605 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7670472 11980220 COMP cartilage oligomeric matrix protein gene DOID:9003916 Carpal Tunnel Syndrome 2 ISO RGD:736605 D RGD:7240710 20210203 OMIM 11980220 COMP cartilage oligomeric matrix protein gene DOID:9003916 Carpal Tunnel Syndrome 2 ISO RGD:736605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carpal tunnel syndrome 2 PMID:12483304|PMID:14684695|PMID:21834907|PMID:21965141|PMID:24595329|PMID:25741868|PMID:28492532|PMID:32686688 11980220 COMP cartilage oligomeric matrix protein gene DOID:9005077 Joint Instability ISO RGD:736605 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9887340 11980220 COMP cartilage oligomeric matrix protein gene DOID:9006041 Osteoarthritis, Hip ISO RGD:736605 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28319091 11980220 COMP cartilage oligomeric matrix protein gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:736605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11980243 RLF RLF zinc finger gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1313242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11980243 RLF RLF zinc finger gene DOID:630 genetic disease ISO RGD:1313242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980255 SLC25A4 solute carrier family 25 member 4 gene DOID:0080130 mitochondrial DNA depletion syndrome 12a ISO RGD:732748 D RGD:7240710 20190315 OMIM 11980255 SLC25A4 solute carrier family 25 member 4 gene DOID:0080130 mitochondrial DNA depletion syndrome 12a ISO RGD:732748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant PMID:25741868|PMID:27693233 11980255 SLC25A4 solute carrier family 25 member 4 gene DOID:0080335 mitochondrial DNA depletion syndrome 12b ISO RGD:732748 D RGD:7240710 20180130 OMIM 11980255 SLC25A4 solute carrier family 25 member 4 gene DOID:0080335 mitochondrial DNA depletion syndrome 12b ISO RGD:732748 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive PMID:16155110|PMID:21549803|PMID:22187496|PMID:22497660|PMID:25732997|PMID:25741868|PMID:27693233|PMID:28492532|PMID:7609449|PMID:8479824 11980255 SLC25A4 solute carrier family 25 member 4 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:732748 D RGD:9068941 20200609 RGD PMID:12056860|REF_RGD_ID:9681470 11980255 SLC25A4 solute carrier family 25 member 4 gene DOID:0111517 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 ISO RGD:732748 D RGD:7240710 20180130 OMIM 11980255 SLC25A4 solute carrier family 25 member 4 gene DOID:0111517 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 ISO RGD:732748 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 PMID:10364542|PMID:10926541|PMID:11756613|PMID:12112115|PMID:16155110|PMID:21549803|PMID:22497660|PMID:25741868|PMID:26467025|PMID:27693233|PMID:28492532|PMID:8644740 11980255 SLC25A4 solute carrier family 25 member 4 gene DOID:10003 sensorineural hearing loss ISO RGD:732748 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:16155110|PMID:21549803|PMID:22497660|PMID:25741868|PMID:27693233 11980255 SLC25A4 solute carrier family 25 member 4 gene DOID:10652 Alzheimer's disease ISO RGD:732748 D RGD:9068941 20200609 RGD PMID:21958963|REF_RGD_ID:9681463 11980255 SLC25A4 solute carrier family 25 member 4 gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:732748 D RGD:9068941 20200609 RGD PMID:15551024|REF_RGD_ID:1580621 11980255 SLC25A4 solute carrier family 25 member 4 gene DOID:11830 myopia ISO RGD:732748 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myopia PMID:16155110|PMID:21549803|PMID:22497660|PMID:25741868|PMID:27693233 11980255 SLC25A4 solute carrier family 25 member 4 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732748 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:16155110|PMID:21549803|PMID:22497660|PMID:25741868|PMID:27693233 11980255 SLC25A4 solute carrier family 25 member 4 gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:732748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions 11980255 SLC25A4 solute carrier family 25 member 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:732748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 11980255 SLC25A4 solute carrier family 25 member 4 gene DOID:12935 alcoholic cardiomyopathy ISO RGD:620352 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:myocardium PMID:21169901|REF_RGD_ID:9681464 11980255 SLC25A4 solute carrier family 25 member 4 gene DOID:397 restrictive cardiomyopathy ISO RGD:732748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:25741868|PMID:28492532 11980255 SLC25A4 solute carrier family 25 member 4 gene DOID:630 genetic disease ISO RGD:732748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:27693233|PMID:28492532 11980255 SLC25A4 solute carrier family 25 member 4 gene DOID:699 mitochondrial myopathy ISO RGD:732748 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial Myopathies PMID:16155110|PMID:21549803|PMID:22497660|PMID:25741868|PMID:27693233 11980255 SLC25A4 solute carrier family 25 member 4 gene DOID:700 mitochondrial metabolism disease ISO RGD:732748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:27693233 11980255 SLC25A4 solute carrier family 25 member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11980255 SLC25A4 solute carrier family 25 member 4 gene DOID:9003936 Cardiomegaly treatment ISO RGD:620352 D RGD:9068941 20200609 RGD associated with Hypertension PMID:17210842|REF_RGD_ID:9681469 11980255 SLC25A4 solute carrier family 25 member 4 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:732748 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:16155110|PMID:21549803|PMID:22497660|PMID:25741868|PMID:27693233 11980255 SLC25A4 solute carrier family 25 member 4 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:732748 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18945756 11980255 SLC25A4 solute carrier family 25 member 4 gene DOID:9007346 Cachexia ISO RGD:620352 D RGD:9068941 20200609 RGD associated with hepatocellular carcinoma PMID:23200745|REF_RGD_ID:13782066 11980255 SLC25A4 solute carrier family 25 member 4 gene DOID:9007736 Vertigo ISO RGD:732748 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Vertigo PMID:16155110|PMID:21549803|PMID:22497660|PMID:25741868|PMID:27693233 11980255 SLC25A4 solute carrier family 25 member 4 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:620352 D RGD:9068941 20200609 RGD PMID:24126566|REF_RGD_ID:9681554 11980255 SLC25A4 solute carrier family 25 member 4 gene DOID:9007925 Sudden Cardiac Death ISO RGD:732748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Family history of sudden cardiac death PMID:25741868|PMID:28492532 11980255 SLC25A4 solute carrier family 25 member 4 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:732748 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 11980261 ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1320234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 11980261 ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1320234 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 11980261 ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:1059 intellectual disability ISO RGD:1320234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11980261 ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:11476 osteoporosis ISO RGD:1320234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20548961 11980261 ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:12858 Huntington's disease ISO RGD:1320235 D RGD:9068941 20220825 MouseDO OMIM:143100 11980261 ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:630 genetic disease ISO RGD:1320234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980261 ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11980261 ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:9120 amyloidosis ISO RGD:1320234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20548961 11980261 ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:987 alopecia ISO RGD:1320234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20548961 11980299 LOC100972109 olfactory receptor 8J3 gene DOID:1059 intellectual disability ISO RGD:1342544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11980299 LOC100972109 olfactory receptor 8J3 gene DOID:630 genetic disease ISO RGD:1342544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980300 LOC100973723 pepsinogen A5 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350538 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11980300 LOC100973723 pepsinogen A5 gene DOID:1059 intellectual disability ISO RGD:1350538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11980300 LOC100973723 pepsinogen A5 gene DOID:11963 esophagitis ISO RGD:1350538 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12928072 11980300 LOC100973723 pepsinogen A5 gene DOID:630 genetic disease ISO RGD:1350538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980308 GDF15 growth differentiation factor 15 gene DOID:1909 melanoma ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 11980308 GDF15 growth differentiation factor 15 gene DOID:2355 anemia treatment ISO RGD:1344001 D RGD:9068941 20200609 RGD associated with Multiple Myeloma PMID:25052873|REF_RGD_ID:11041612 11980308 GDF15 growth differentiation factor 15 gene DOID:3393 coronary artery disease ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20855664 11980308 GDF15 growth differentiation factor 15 gene DOID:403 mouth disease ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 11980308 GDF15 growth differentiation factor 15 gene DOID:6000 congestive heart failure ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20855664 11980308 GDF15 growth differentiation factor 15 gene DOID:630 genetic disease ISO RGD:1344001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980308 GDF15 growth differentiation factor 15 gene DOID:684 hepatocellular carcinoma ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20512989 11980308 GDF15 growth differentiation factor 15 gene DOID:8955 sideroblastic anemia ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19036111 11980308 GDF15 growth differentiation factor 15 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23996089 11980308 GDF15 growth differentiation factor 15 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16775185|PMID:23996089 11980308 GDF15 growth differentiation factor 15 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19505289 11980308 GDF15 growth differentiation factor 15 gene DOID:9004657 Weight Gain ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11980308 GDF15 growth differentiation factor 15 gene DOID:9006796 Gastrointestinal Neoplasms ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24440808 11980308 GDF15 growth differentiation factor 15 gene DOID:9007102 Myocardial Ischemia ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11980308 GDF15 growth differentiation factor 15 gene DOID:9007346 Cachexia ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30782979 11980308 GDF15 growth differentiation factor 15 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1344001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11980314 SAFB2 scaffold attachment factor B2 gene DOID:10283 prostate cancer ISO RGD:1342747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11980314 SAFB2 scaffold attachment factor B2 gene DOID:630 genetic disease ISO RGD:1342747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980344 ACTRT1 actin related protein T1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11980344 ACTRT1 actin related protein T1 gene DOID:1056 oculocerebrorenal syndrome ISO RGD:1605289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lowe syndrome PMID:17142121 11980344 ACTRT1 actin related protein T1 gene DOID:12849 autistic disorder ISO RGD:1605289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11980344 ACTRT1 actin related protein T1 gene DOID:630 genetic disease ISO RGD:1605289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980349 NRF1 nuclear respiratory factor 1 gene DOID:12858 Huntington's disease ISO RGD:1312138 D RGD:9068941 20200609 RGD mRNA:decreased expression:striatum PMID:20529956|REF_RGD_ID:6771173 11980349 NRF1 nuclear respiratory factor 1 gene DOID:12858 Huntington's disease onset ISO RGD:1312137 D RGD:9068941 20200609 RGD DNA:SNPs: :rs6949152, rs7781972 (human) PMID:21595933|REF_RGD_ID:6770890 11980349 NRF1 nuclear respiratory factor 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1312137 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:22975021 11980349 NRF1 nuclear respiratory factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11980349 NRF1 nuclear respiratory factor 1 gene DOID:630 genetic disease ISO RGD:1312137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980349 NRF1 nuclear respiratory factor 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1304603 D RGD:9068941 20230406 RGD mRNA, protein:increase expression:cerebral cortex PMID:18723421|REF_RGD_ID:2302400 11980349 NRF1 nuclear respiratory factor 1 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1304603 D RGD:9068941 20200609 RGD mRNA:increased expression:hear right ventricle PMID:17704287|REF_RGD_ID:2302404 11980349 NRF1 nuclear respiratory factor 1 gene DOID:9007170 Bowen's Disease ISO RGD:1312137 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21514422 11980381 NELFE negative elongation factor complex member E gene DOID:0050553 JMP syndrome ISO RGD:1344973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11980381 NELFE negative elongation factor complex member E gene DOID:0111414 trichohepatoenteric syndrome ISO RGD:1344973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichohepatoenteric syndrome 11980381 NELFE negative elongation factor complex member E gene DOID:630 genetic disease ISO RGD:1344973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:0080596 hyper IgE recurrent infection syndrome 4 ISO RGD:731409 D RGD:7240710 20190911 OMIM 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:0080596 hyper IgE recurrent infection syndrome 4 ISO RGD:731409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4A, autosomal dominant PMID:17576681|PMID:25741868|PMID:28492532|PMID:28747427|PMID:30309848|PMID:32207811|PMID:33771552|PMID:9536098 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:731409 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:25741868 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:10534 stomach cancer ISO RGD:731410 D RGD:9068941 20220825 MouseDO OMIM:137215 | OMIM:613659 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:10652 Alzheimer's disease ISO RGD:731409 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:10095017|REF_RGD_ID:10402847 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:10763 hypertension severity ISO RGD:731409 D RGD:9068941 20200609 RGD Hypertension, Pregnancy-Induced;protein:increased expression:serum PMID:11778537|REF_RGD_ID:1625432 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:11613 hyperandrogenism resistance ISO RGD:731409 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p148G>R PMID:12917504|REF_RGD_ID:1625428 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:11832 visual epilepsy ISO RGD:2903 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus, granule cell (rat) PMID:14597225|REF_RGD_ID:1627572 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:1205 allergic disease ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:1824 status epilepticus ISO RGD:2903 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:14614900|REF_RGD_ID:1627571 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:2316 brain ischemia ISO RGD:2903 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, astrocyte PMID:15469886|REF_RGD_ID:1627568 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:2349 arteriosclerosis ISO RGD:731410 D RGD:9068941 20200609 RGD PMID:17664290|REF_RGD_ID:1626686 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:2349 arteriosclerosis susceptibility ISO RGD:731409 D RGD:9068941 20200609 RGD DNA:SNPs PMID:17664290|REF_RGD_ID:1626686 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:305 carcinoma ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:3261 hyper IgE recurrent infection syndrome 1 ISO RGD:731409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1 PMID:25741868|PMID:32207811 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:3525 middle cerebral artery infarction ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21940958 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:552 pneumonia ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:630 genetic disease ISO RGD:731409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:684 hepatocellular carcinoma ISO RGD:2903 D RGD:9068941 20200609 RGD PMID:15780071|REF_RGD_ID:1626706 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:7148 rheumatoid arthritis ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:7148 rheumatoid arthritis ISO RGD:731410 D RGD:9068941 20220825 MouseDO OMIM:180300 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:8466 retinal degeneration ISO RGD:731410 D RGD:9068941 20200609 RGD PMID:19948961|REF_RGD_ID:10402848 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9000641 Pain ISO RGD:731409 D RGD:9068941 20200609 RGD PMID:20626857|REF_RGD_ID:5509945 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9000702 Stuve-Wiedemann Syndrome 2 ISO RGD:731409 D RGD:7240710 20220330 OMIM 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9000702 Stuve-Wiedemann Syndrome 2 ISO RGD:731409 D RGD:8554872 20220517 ClinVar ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 PMID:25741868|PMID:31914175 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9001114 Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies ISO RGD:731409 D RGD:7240710 20220316 OMIM 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9001114 Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies ISO RGD:731409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 94 with autoinflammation and dysmorphic facies PMID:19020503|PMID:33517393 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9002234 Pituitary Neoplasms ISO RGD:2903 D RGD:9068941 20200609 RGD PMID:15538938|REF_RGD_ID:1627046 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9002304 Prostatic Neoplasms ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475|PMID:29662167 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9002457 Experimental Arthritis ISO RGD:731409 D RGD:9068941 20200609 RGD PMID:20626857|REF_RGD_ID:5509945 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9002720 Splenomegaly ISO RGD:731410 D RGD:9068941 20200609 RGD PMID:12219085|REF_RGD_ID:737752 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9002762 Ovarian Neoplasms ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11161848 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9003936 Cardiomegaly ISO RGD:731410 D RGD:9068941 20200609 RGD PMID:10219240|REF_RGD_ID:737751 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9004009 Reperfusion Injury ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21940958 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9004577 Stuve-Wiedemann Syndrome ISO RGD:731409 D RGD:8554872 20220816 ClinVar ClinVar Annotator: match by term: Stuve-Wiedemann syndrome PMID:25741868|PMID:31914175 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9006599 Hypertriglyceridemia ISO RGD:2903 D RGD:9068941 20200609 RGD PMID:8843746|REF_RGD_ID:1626687 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9007102 Myocardial Ischemia ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11980402 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9008443 Colorectal Neoplasms ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19223499 11980468 HSD17B12 hydroxysteroid 17-beta dehydrogenase 12 gene DOID:1059 intellectual disability ISO RGD:1346748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11980468 HSD17B12 hydroxysteroid 17-beta dehydrogenase 12 gene DOID:630 genetic disease ISO RGD:1346748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980483 SPATA25 spermatogenesis associated 25 gene DOID:0080540 galactosialidosis ISO RGD:1351206 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined deficiency of sialidase AND beta galactosidase 11980483 SPATA25 spermatogenesis associated 25 gene DOID:2234 focal epilepsy ISO RGD:1351206 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11980483 SPATA25 spermatogenesis associated 25 gene DOID:630 genetic disease ISO RGD:1351206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980483 SPATA25 spermatogenesis associated 25 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1351206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11980489 SPOPL speckle type BTB/POZ protein like gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1605812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 11980489 SPOPL speckle type BTB/POZ protein like gene DOID:630 genetic disease ISO RGD:1605812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980514 SYPL2 synaptophysin like 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1603517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11980514 SYPL2 synaptophysin like 2 gene DOID:12849 autistic disorder ISO RGD:1603517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11980514 SYPL2 synaptophysin like 2 gene DOID:630 genetic disease ISO RGD:1603517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980523 ZNF335 zinc finger protein 335 gene DOID:0070294 primary autosomal recessive microcephaly 10 ISO RGD:732123 D RGD:7240710 20180130 OMIM 11980523 ZNF335 zinc finger protein 335 gene DOID:0070294 primary autosomal recessive microcephaly 10 ISO RGD:732123 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 10 PMID:19131338|PMID:23178126|PMID:25741868|PMID:27540107|PMID:28327206|PMID:28492532|PMID:29652087|PMID:33216650 11980523 ZNF335 zinc finger protein 335 gene DOID:2234 focal epilepsy ISO RGD:732123 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11980523 ZNF335 zinc finger protein 335 gene DOID:630 genetic disease ISO RGD:732123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19131338|PMID:22495306|PMID:23178126|PMID:25741868|PMID:26795593|PMID:27540107|PMID:28492532 11980523 ZNF335 zinc finger protein 335 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:732123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11980523 ZNF335 zinc finger protein 335 gene DOID:9003016 Aminoacylase 1 Deficiency ISO RGD:732123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of the aminoacylase-1 enzyme 11980563 NUP205 nucleoporin 205 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1319746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26878725 11980563 NUP205 nucleoporin 205 gene DOID:0080381 nephrotic syndrome type 13 ISO RGD:1319746 D RGD:7240710 20190315 OMIM 11980563 NUP205 nucleoporin 205 gene DOID:0080381 nephrotic syndrome type 13 ISO RGD:1319746 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 13 PMID:25741868|PMID:26878725|PMID:28492532 11980563 NUP205 nucleoporin 205 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11980563 NUP205 nucleoporin 205 gene DOID:5408 Paget's disease of bone ISO RGD:1319746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21623375 11980563 NUP205 nucleoporin 205 gene DOID:630 genetic disease ISO RGD:1319746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11980563 NUP205 nucleoporin 205 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1319746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11980608 STXBP4 syntaxin binding protein 4 gene DOID:630 genetic disease ISO RGD:1317366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980608 STXBP4 syntaxin binding protein 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1317366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 11980634 LOC100975313 olfactory receptor 2M4 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1347987 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11980634 LOC100975313 olfactory receptor 2M4 gene DOID:1540 parathyroid carcinoma ISO RGD:1347987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11980634 LOC100975313 olfactory receptor 2M4 gene DOID:630 genetic disease ISO RGD:1347987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980634 LOC100975313 olfactory receptor 2M4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11980634 LOC100975313 olfactory receptor 2M4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11980637 DERL2 derlin 2 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1344289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 11980637 DERL2 derlin 2 gene DOID:630 genetic disease ISO RGD:1344289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980654 CHAT choline O-acetyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:1312173 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11980654 CHAT choline O-acetyltransferase gene DOID:0110671 congenital myasthenic syndrome 6 ISO RGD:1312173 D RGD:7240710 20180130 OMIM 11980654 CHAT choline O-acetyltransferase gene DOID:0110671 congenital myasthenic syndrome 6 ISO RGD:1312173 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial infantile myasthenia PMID:11172068|PMID:12548525|PMID:12756141|PMID:15381704|PMID:15701560|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19520274|PMID:19900826|PMID:21786365|PMID:21948486|PMID:22678886|PMID:23292760|PMID:24033266|PMID:25741868|PMID:26080897|PMID:26467025|PMID:26789281|PMID:28492532|PMID:28497657|PMID:28991257|PMID:29054425|PMID:29189923|PMID:32368696|PMID:9073174|PMID:9536098 11980654 CHAT choline O-acetyltransferase gene DOID:0110671 congenital myasthenic syndrome 6 susceptibility ISO RGD:1312173 D RGD:9068941 20200609 RGD DNA:frameshift mutation, missense mutations PMID:11172068|REF_RGD_ID:1600831 11980654 CHAT choline O-acetyltransferase gene DOID:0110672 congenital myasthenic syndrome 21 ISO RGD:1312173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 21 PMID:25741868|PMID:27590285|PMID:28492532 11980654 CHAT choline O-acetyltransferase gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:1312173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C PMID:25741868 11980654 CHAT choline O-acetyltransferase gene DOID:10652 Alzheimer's disease ISO RGD:1304627 D RGD:9068941 20200609 RGD PMID:16834974|REF_RGD_ID:1600851 11980654 CHAT choline O-acetyltransferase gene DOID:10652 Alzheimer's disease ISO RGD:1312173 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:4G>A PMID:12401548|REF_RGD_ID:1358495 11980654 CHAT choline O-acetyltransferase gene DOID:11372 megacolon ISO RGD:1312173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11980654 CHAT choline O-acetyltransferase gene DOID:12858 Huntington's disease ISO RGD:1549990 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex PMID:16987871|REF_RGD_ID:5686805 11980654 CHAT choline O-acetyltransferase gene DOID:13550 angle-closure glaucoma ISO RGD:1312173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27064256 11980654 CHAT choline O-acetyltransferase gene DOID:2841 asthma ISO RGD:1304627 D RGD:9068941 20200609 RGD Protein:decreased expression:lung epithelium PMID:17328924|REF_RGD_ID:5686690 11980654 CHAT choline O-acetyltransferase gene DOID:3635 congenital myasthenic syndrome ISO RGD:1312173 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:11172068|PMID:12548525|PMID:21786365|PMID:22678886|PMID:23292760|PMID:24033266|PMID:25741868|PMID:26080897|PMID:28492532|PMID:28497657|PMID:28991257|PMID:29189923|PMID:32368696 11980654 CHAT choline O-acetyltransferase gene DOID:535 sleep disorder ISO RGD:1312173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sleep disturbance PMID:25741868 11980654 CHAT choline O-acetyltransferase gene DOID:5419 schizophrenia ISO RGD:1312173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11980654 CHAT choline O-acetyltransferase gene DOID:5679 retinal disease ISO RGD:1312173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 11980654 CHAT choline O-acetyltransferase gene DOID:630 genetic disease ISO RGD:1312173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 11980654 CHAT choline O-acetyltransferase gene DOID:9004009 Reperfusion Injury ISO RGD:1312173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 11980654 CHAT choline O-acetyltransferase gene DOID:9220 central sleep apnea ISO RGD:1312173 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Apnea, central sleep PMID:15701560|PMID:25741868|PMID:28492532 11980654 Chat choline O-acetyltransferase gene DOID:1596 depressive disorder ISO RGD:1304627 D RGD:9068941 20220128 RGD mRNA:decreased expression:habenula: PMID:28420875|REF_RGD_ID:151347550 11980655 NOSIP nitric oxide synthase interacting protein gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1320636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11980655 NOSIP nitric oxide synthase interacting protein gene DOID:4621 holoprosencephaly ISO RGD:1320637 D RGD:9068941 20220825 MouseDO 11980655 NOSIP nitric oxide synthase interacting protein gene DOID:630 genetic disease ISO RGD:1320636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980677 PLAAT2 phospholipase A and acyltransferase 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1344464 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11980677 PLAAT2 phospholipase A and acyltransferase 2 gene DOID:1059 intellectual disability ISO RGD:1344464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11980688 CDON cell adhesion associated, oncogene regulated gene DOID:0060857 septooptic dysplasia ISO RGD:733697 D RGD:9068941 20200609 RGD PMID:27935818|REF_RGD_ID:12801420 11980688 CDON cell adhesion associated, oncogene regulated gene DOID:0110877 holoprosencephaly 11 ISO RGD:1345886 D RGD:7240710 20180130 OMIM 11980688 CDON cell adhesion associated, oncogene regulated gene DOID:0110877 holoprosencephaly 11 ISO RGD:1345886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:16199547|PMID:17576681|PMID:20301702|PMID:21802063|PMID:25741868|PMID:26529631|PMID:26728615|PMID:28492532|PMID:31502381|PMID:9536098 11980688 CDON cell adhesion associated, oncogene regulated gene DOID:0110881 holoprosencephaly 1 ISO RGD:1345886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 1 PMID:25741868|PMID:28492532 11980688 CDON cell adhesion associated, oncogene regulated gene DOID:0111723 Jacobsen Syndrome ISO RGD:1345886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11980688 CDON cell adhesion associated, oncogene regulated gene DOID:10907 microcephaly ISO RGD:1345886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11980688 CDON cell adhesion associated, oncogene regulated gene DOID:12270 coloboma ISO RGD:1345886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma 11980688 CDON cell adhesion associated, oncogene regulated gene DOID:4621 holoprosencephaly ISO RGD:1345886 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Holoprosencephaly spectrum disorder PMID:20301702|PMID:26728615|PMID:28492532 11980688 CDON cell adhesion associated, oncogene regulated gene DOID:5419 schizophrenia ISO RGD:1345886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11980688 CDON cell adhesion associated, oncogene regulated gene DOID:630 genetic disease ISO RGD:1345886 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11980688 CDON cell adhesion associated, oncogene regulated gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1345886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868|PMID:26529631 11980688 CDON cell adhesion associated, oncogene regulated gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11980688 CDON cell adhesion associated, oncogene regulated gene DOID:9007284 Precocious Puberty ISO RGD:1345886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral precocious puberty 11980688 CDON cell adhesion associated, oncogene regulated gene DOID:9007661 Dwarfism ISO RGD:1345886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11980688 CDON cell adhesion associated, oncogene regulated gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11980730 CCP110 centriolar coiled-coil protein 110 gene DOID:630 genetic disease ISO RGD:1605415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980759 MAGEB16 MAGE family member B16 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11980759 MAGEB16 MAGE family member B16 gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1353190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 11980759 MAGEB16 MAGE family member B16 gene DOID:12849 autistic disorder ISO RGD:1353190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11980759 MAGEB16 MAGE family member B16 gene DOID:630 genetic disease ISO RGD:1353190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980759 MAGEB16 MAGE family member B16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11980759 MAGEB16 MAGE family member B16 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1353190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 11980765 FHIP2A FHF complex subunit HOOK interacting protein 2A gene DOID:0050888 syndromic intellectual disability ISO RGD:1314542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 11980765 FHIP2A FHF complex subunit HOOK interacting protein 2A gene DOID:1909 melanoma ISO RGD:1314542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11980765 FHIP2A FHF complex subunit HOOK interacting protein 2A gene DOID:630 genetic disease ISO RGD:1314542 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980785 SREK1IP1 SREK1 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1604479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980785 SREK1IP1 SREK1 interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11980794 XRN2 5'-3' exoribonuclease 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1320991 D RGD:9068941 20200609 RGD DNA:hypermethylation:3' utr: (human) PMID:21692051|REF_RGD_ID:11041796 11980794 XRN2 5'-3' exoribonuclease 2 gene DOID:1324 lung cancer susceptibility ISO RGD:1320991 D RGD:9068941 20200609 RGD DNA:snp:intron:c.2171-314T>C (rs2025811) (human) PMID:19915612|REF_RGD_ID:11041753 11980794 XRN2 5'-3' exoribonuclease 2 gene DOID:1824 status epilepticus ISO RGD:1310218 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:26869208|REF_RGD_ID:11041797 11980794 XRN2 5'-3' exoribonuclease 2 gene DOID:1967 leiomyosarcoma ISO RGD:1320991 D RGD:9068941 20200609 RGD mRNA:increased expression:uterus (human) PMID:24485798|REF_RGD_ID:11041788 11980794 XRN2 5'-3' exoribonuclease 2 gene DOID:630 genetic disease ISO RGD:1320991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980836 SHOX2 short stature homeobox 2 gene DOID:0060847 Leri-Weill dyschondrosteosis ISO RGD:11290 D RGD:9068941 20220825 MouseDO OMIM:127300 11980836 SHOX2 short stature homeobox 2 gene DOID:1324 lung cancer ISO RGD:736918 D RGD:9068941 20200609 RGD PMID:25331797|REF_RGD_ID:12859082 11980836 SHOX2 short stature homeobox 2 gene DOID:630 genetic disease ISO RGD:736918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980836 SHOX2 short stature homeobox 2 gene DOID:674 cleft palate ISO RGD:11290 D RGD:9068941 20200609 RGD PMID:16141225|REF_RGD_ID:12859081 11980852 KLHDC2 kelch domain containing 2 gene DOID:630 genetic disease ISO RGD:1315157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980852 KLHDC2 kelch domain containing 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1315157 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11980852 KLHDC2 kelch domain containing 2 gene DOID:9004881 Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy ISO RGD:1315157 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay and axonal peripheral neuropathy PMID:25741868 11980872 PTPRJ protein tyrosine phosphatase receptor type J gene DOID:1059 intellectual disability ISO RGD:736433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11980872 PTPRJ protein tyrosine phosphatase receptor type J gene DOID:10763 hypertension ISO RGD:3454 D RGD:9068941 20200609 RGD PMID:15710778|REF_RGD_ID:1357414 11980872 PTPRJ protein tyrosine phosphatase receptor type J gene DOID:1520 colon carcinoma ISO RGD:736433 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:12089527|PMID:25741868|PMID:33116287 11980872 PTPRJ protein tyrosine phosphatase receptor type J gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:736433 D RGD:9068941 20220512 RGD DNA:missense mutations:cds:p.R326Q, p.Q276P (human) PMID:19672627|REF_RGD_ID:152176665 11980872 PTPRJ protein tyrosine phosphatase receptor type J gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:736433 D RGD:9068941 20220512 RGD DNA:missense mutations:cds:p.R326Q, p.Q276P (human) PMID:19672627|REF_RGD_ID:152176665 11980872 PTPRJ protein tyrosine phosphatase receptor type J gene DOID:630 genetic disease ISO RGD:736433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980872 PTPRJ protein tyrosine phosphatase receptor type J gene DOID:9008443 Colorectal Neoplasms ISO RGD:736433 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 11980872 PTPRJ protein tyrosine phosphatase receptor type J gene DOID:9256 colorectal cancer ISO RGD:736433 D RGD:7240710 20200226 OMIM 11980872 PTPRJ protein tyrosine phosphatase receptor type J gene DOID:9256 colorectal cancer ISO RGD:736433 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:12089527|PMID:25741868|PMID:33116287 11980872 PTPRJ protein tyrosine phosphatase receptor type J gene DOID:9256 colorectal cancer susceptibility ISO RGD:736433 D RGD:9068941 20220512 RGD DNA:missense mutations:cds:p.R326Q, p.Q276P (human) PMID:19672627|REF_RGD_ID:152176665 11980901 JADE3 jade family PHD finger 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11980901 JADE3 jade family PHD finger 3 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1344107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11980901 JADE3 jade family PHD finger 3 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1344107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders PMID:14985377|PMID:21441247|PMID:28492532 11980901 JADE3 jade family PHD finger 3 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1344107 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 11980901 JADE3 jade family PHD finger 3 gene DOID:12849 autistic disorder ISO RGD:1344107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11980901 JADE3 jade family PHD finger 3 gene DOID:630 genetic disease ISO RGD:1344107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980901 JADE3 jade family PHD finger 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11980916 FOXRED2 FAD dependent oxidoreductase domain containing 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1602317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11980916 FOXRED2 FAD dependent oxidoreductase domain containing 2 gene DOID:630 genetic disease ISO RGD:1602317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980936 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0050700 cardiomyopathy ISO RGD:1346463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16199547|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17576681|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18811822|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24558114|PMID:24938736|PMID:25741868|PMID:25997934|PMID:26265630|PMID:27532257|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28707430|PMID:28771489|PMID:28917552|PMID:29121657|PMID:29298659|PMID:29875424|PMID:30122538|PMID:30615648|PMID:30847666|PMID:31513939|PMID:31737537|PMID:31785789|PMID:31838722|PMID:32009526|PMID:32150461|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33495597|PMID:33673806|PMID:9536098 11980936 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0050700 cardiomyopathy ISO RGD:1346463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16199547|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17576681|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18811822|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24558114|PMID:24938736|PMID:25611685|PMID:25741868|PMID:25997934|PMID:26265630|PMID:27532257|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28707430|PMID:28771489|PMID:28917552|PMID:29121657|PMID:29298659|PMID:29875424|PMID:30122538|PMID:30615648|PMID:30847666|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31785789|PMID:31838722|PMID:32009526|PMID:32150461|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33495597|PMID:33673806|PMID:33762593|PMID:35413566|PMID:9536098 11980936 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1346463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:25741868|PMID:25997934|PMID:27532257|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28917552|PMID:29298659|PMID:30847666|PMID:31513939|PMID:31737537|PMID:32681253|PMID:33244021|PMID:33673806|PMID:33762593 11980936 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1346463 D RGD:7240710 20180130 OMIM 11980936 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1346463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart | ClinVar Annotator: match by term: PHOSPHORYLASE KINASE DEFICIENCY OF HEART PMID:10355918|PMID:10368461|PMID:10820940|PMID:11371514|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14696860|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16199547|PMID:16275868|PMID:16487706|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17576681|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18348270|PMID:18403758|PMID:18811822|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23741347|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24938736|PMID:25606385|PMID:25611685|PMID:25640679|PMID:25741868|PMID:25997934|PMID:26085771|PMID:26265630|PMID:27532257|PMID:27573176|PMID:27621313|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28546535|PMID:28690312|PMID:28707430|PMID:28771489|PMID:28801758|PMID:28917552|PMID:29121657|PMID:29298659|PMID:29875424|PMID:30122538|PMID:30165862|PMID:30206291|PMID:30336887|PMID:30615648|PMID:30847666|PMID:31513939|PMID:31527676|PMID:31720784|PMID:31737537|PMID:31785789|PMID:31838722|PMID:32009526|PMID:32150461|PMID:32215636|PMID:32259713|PMID:32314121|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33495597|PMID:33673806|PMID:33762593|PMID:35413566|PMID:9536098 11980936 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1346463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:14519435|PMID:24033266|PMID:25741868|PMID:28492532 11980936 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1346463 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:25741868|PMID:25997934|PMID:27532257|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28917552|PMID:29298659|PMID:30847666|PMID:31513939|PMID:31527676|PMID:31737537|PMID:32681253|PMID:33244021|PMID:33673806|PMID:33762593 11980936 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0110312 hypertrophic cardiomyopathy 6 ISO RGD:1346463 D RGD:7240710 20180130 OMIM 11980936 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0110312 hypertrophic cardiomyopathy 6 ISO RGD:1346463 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 6 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 6 PMID:10355918|PMID:10820940|PMID:11371514|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16487706|PMID:16686673|PMID:16716659|PMID:16836667|PMID:17483151|PMID:17597581|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18403758|PMID:19787389|PMID:19808419|PMID:20005292|PMID:20031621|PMID:20381067|PMID:20600102|PMID:20888928|PMID:21409595|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24558114|PMID:25092788|PMID:25741868|PMID:25997934|PMID:26085771|PMID:26729852|PMID:27532257|PMID:27573176|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28917552|PMID:29298659|PMID:29875424|PMID:30165862|PMID:30336887|PMID:30847666|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31838722|PMID:32314121|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33673806|PMID:33762593|PMID:7657794 11980936 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0111101 maturity-onset diabetes of the young type 5 ISO RGD:1346463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal cysts and diabetes syndrome PMID:23778007|PMID:23992123|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28498465 11980936 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:10763 hypertension ISO RGD:1346463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertension PMID:25741868|PMID:28492532 11980936 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1346463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10355918|PMID:10368461|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14696860|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16487706|PMID:16686673|PMID:16716659|PMID:16836667|PMID:17483151|PMID:17597581|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18403758|PMID:19787389|PMID:19808419|PMID:20005292|PMID:20031621|PMID:20381067|PMID:20600102|PMID:20888928|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:25092788|PMID:25611685|PMID:25741868|PMID:25997934|PMID:26085771|PMID:26729852|PMID:27532257|PMID:27573176|PMID:27621313|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28801758|PMID:28917552|PMID:29298659|PMID:30165862|PMID:30336887|PMID:31513939|PMID:31737537|PMID:32314121|PMID:32681253|PMID:33244021|PMID:33673806 11980936 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1346463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 11980936 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:2747 glycogen storage disease ISO RGD:1346463 D RGD:9068941 20200609 RGD PMID:15877279|REF_RGD_ID:1580717 11980936 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:2843 long QT syndrome ISO RGD:1346463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 11980936 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:3393 coronary artery disease ISO RGD:1346463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease PMID:25741868|PMID:28492532 11980936 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1346463 D RGD:7240710 20180130 OMIM 11980936 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1346463 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern | ClinVar Annotator: match by term: Wolff-Parkinson-White syndrome, childhood-onset PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24558114|PMID:25741868|PMID:25997934|PMID:27532257|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28917552|PMID:29253866|PMID:29298659|PMID:32746448 11980936 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1346463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: False bundle branch block syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern | ClinVar Annotator: match by term: Wolff-Parkinson-White syndrome, childhood-onset PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16339829|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24352254|PMID:24503780|PMID:24558114|PMID:25741868|PMID:25997934|PMID:27532257|PMID:27621313|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28917552|PMID:29121657|PMID:29253866|PMID:29298659|PMID:29875424|PMID:30847666|PMID:31513939|PMID:31737537|PMID:31838722|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33673806 11980936 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1346463 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: False bundle branch block syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern | ClinVar Annotator: match by term: Wolff-Parkinson-White syndrome, childhood-onset PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16339829|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24352254|PMID:24558114|PMID:25741868|PMID:25997934|PMID:27532257|PMID:27621313|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28917552|PMID:29121657|PMID:29298659|PMID:29875424|PMID:30847666|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31838722|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33673806|PMID:33762593 11980936 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:6000 congestive heart failure ISO RGD:1346463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congestive heart failure | ClinVar Annotator: match by term: Heart failure PMID:21409595|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532 11980936 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:630 genetic disease ISO RGD:1346463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 11980936 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1346463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:25741868|PMID:28492532 11980936 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1346463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28492532 11980936 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:9007096 Stroke ISO RGD:1346463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:28492532 11980961 ZNF304 zinc finger protein 304 gene DOID:10283 prostate cancer ISO RGD:1352206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11980961 ZNF304 zinc finger protein 304 gene DOID:630 genetic disease ISO RGD:1352206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980969 FBXO48 F-box protein 48 gene DOID:630 genetic disease ISO RGD:1605751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980994 RRM1 ribonucleotide reductase catalytic subunit M1 gene DOID:0080074 neural tube defect ISO RGD:737409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10716750 11980994 RRM1 ribonucleotide reductase catalytic subunit M1 gene DOID:0080773 delta beta-thalassemia ISO RGD:737409 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11980994 RRM1 ribonucleotide reductase catalytic subunit M1 gene DOID:11832 visual epilepsy ISO RGD:1592569 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus (rat) PMID:15725396|REF_RGD_ID:5133692 11980994 RRM1 ribonucleotide reductase catalytic subunit M1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:737409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21496433 11980994 RRM1 ribonucleotide reductase catalytic subunit M1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:737409 D RGD:9068941 20210604 RGD PMID:19002265|REF_RGD_ID:127229933 11980994 RRM1 ribonucleotide reductase catalytic subunit M1 gene DOID:3910 lung adenocarcinoma ISO RGD:737409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11980994 RRM1 ribonucleotide reductase catalytic subunit M1 gene DOID:3948 adrenocortical carcinoma ISO RGD:737409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22547773 11980994 RRM1 ribonucleotide reductase catalytic subunit M1 gene DOID:630 genetic disease ISO RGD:737409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11980994 RRM1 ribonucleotide reductase catalytic subunit M1 gene DOID:684 hepatocellular carcinoma ISO RGD:737409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18230555 11980994 RRM1 ribonucleotide reductase catalytic subunit M1 gene DOID:9000918 Disease Progression ISO RGD:737409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21496433 11980994 RRM1 ribonucleotide reductase catalytic subunit M1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1592569 D RGD:9068941 20200609 RGD PMID:15224347|REF_RGD_ID:2316863 11980994 RRM1 ribonucleotide reductase catalytic subunit M1 gene DOID:9006205 Animal Disease Models ISO RGD:737409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11981017 CFAP157 cilia and flagella associated protein 157 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343575 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11981017 CFAP157 cilia and flagella associated protein 157 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1343575 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11981017 CFAP157 cilia and flagella associated protein 157 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1343575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11981017 CFAP157 cilia and flagella associated protein 157 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1343575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 11981017 CFAP157 cilia and flagella associated protein 157 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343575 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11981017 CFAP157 cilia and flagella associated protein 157 gene DOID:630 genetic disease ISO RGD:1343575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981033 SLC5A2 solute carrier family 5 member 2 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:731434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11981033 SLC5A2 solute carrier family 5 member 2 gene DOID:10283 prostate cancer ISO RGD:731434 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:25741868 11981033 SLC5A2 solute carrier family 5 member 2 gene DOID:10763 hypertension ISO RGD:620217 D RGD:9068941 20200609 RGD PMID:14506074|REF_RGD_ID:1599050 11981033 SLC5A2 solute carrier family 5 member 2 gene DOID:630 genetic disease ISO RGD:731434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11981033 SLC5A2 solute carrier family 5 member 2 gene DOID:9432 renal glycosuria ISO RGD:731434 D RGD:7240710 20180130 OMIM 11981033 SLC5A2 solute carrier family 5 member 2 gene DOID:9432 renal glycosuria ISO RGD:731434 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial renal glucosuria PMID:12436245|PMID:14569097|PMID:14614622|PMID:15110322|PMID:18622023|PMID:21165652|PMID:23265383|PMID:25741868|PMID:26376857|PMID:28492532 11981057 ACP1 acid phosphatase 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:10069 D RGD:9068941 20200609 RGD associated with Tourette Syndrome;DNA:SNP: :p.Q105R, 216A>G (human) PMID:12231445|REF_RGD_ID:1358577 11981057 ACP1 acid phosphatase 1 gene DOID:12995 conduct disorder ISO RGD:10069 D RGD:9068941 20200609 RGD associated with Tourette Syndrome;DNA:SNP: :p.Q105R, 216A>G (human) PMID:12231445|REF_RGD_ID:1358577 11981057 ACP1 acid phosphatase 1 gene DOID:3393 coronary artery disease ISO RGD:10069 D RGD:9068941 20200609 RGD PMID:19246900|REF_RGD_ID:2313179 11981057 ACP1 acid phosphatase 1 gene DOID:630 genetic disease ISO RGD:10069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981057 ACP1 acid phosphatase 1 gene DOID:8947 diabetic retinopathy ISO RGD:10069 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:12495297|REF_RGD_ID:2313184 11981057 ACP1 acid phosphatase 1 gene DOID:9006599 Hypertriglyceridemia ISO RGD:10069 D RGD:9068941 20200609 RGD associated with Obesity PMID:12409270|REF_RGD_ID:1625288 11981057 ACP1 acid phosphatase 1 gene DOID:9007692 Insulin Resistance ISO RGD:10068 D RGD:9068941 20200609 RGD associated with Obesity PMID:17353188|REF_RGD_ID:2313180 11981057 ACP1 acid phosphatase 1 gene DOID:9351 diabetes mellitus ISO RGD:10069 D RGD:9068941 20200609 RGD PMID:8620937|REF_RGD_ID:2313188 11981057 ACP1 acid phosphatase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:10069 D RGD:9068941 20200609 RGD PMID:15281007|REF_RGD_ID:2313183 11981057 ACP1 acid phosphatase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:10069 D RGD:9068941 20200609 RGD PMID:15586390|REF_RGD_ID:2313182 11981057 ACP1 acid phosphatase 1 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:10069 D RGD:9068941 20200609 RGD PMID:11912546|REF_RGD_ID:2313186 11981057 ACP1 acid phosphatase 1 gene DOID:9970 obesity ISO RGD:10069 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:9198310|REF_RGD_ID:2313187 11981057 ACP1 acid phosphatase 1 gene DOID:9970 obesity severity ISO RGD:10069 D RGD:9068941 20200609 RGD PMID:2373509|REF_RGD_ID:1625289 11981073 ANK1 ankyrin 1 gene DOID:0080006 bone development disease ISO RGD:1320055 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18728347 11981073 ANK1 ankyrin 1 gene DOID:0090039 torsion dystonia 6 ISO RGD:1320055 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 11981073 ANK1 ankyrin 1 gene DOID:0110916 hereditary spherocytosis type 1 ISO RGD:1320055 D RGD:7240710 20180130 OMIM 11981073 ANK1 ankyrin 1 gene DOID:0110916 hereditary spherocytosis type 1 ISO RGD:1320055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis type 1 | ClinVar Annotator: match by term: Spherocytosis, type 1, autosomal recessive PMID:11102985|PMID:11167760|PMID:11372755|PMID:12899723|PMID:1486040|PMID:15071790|PMID:16037067|PMID:16199547|PMID:17327413|PMID:22573887|PMID:24033266|PMID:25741868|PMID:26830532|PMID:27292444|PMID:27427187|PMID:28492532|PMID:29597199|PMID:31016877|PMID:31122244|PMID:31669644|PMID:31980736|PMID:32436265|PMID:32518793|PMID:32641076|PMID:33014018|PMID:33074480|PMID:33116287|PMID:7883994|PMID:8640229|PMID:9590147 11981073 ANK1 ankyrin 1 gene DOID:0111959 immunodeficiency 15B ISO RGD:1320055 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 11981073 ANK1 ankyrin 1 gene DOID:10907 microcephaly ISO RGD:1320055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11981073 ANK1 ankyrin 1 gene DOID:12365 malaria ISO RGD:1320056 D RGD:9068941 20220825 MouseDO OMIM:609148 | OMIM:611162 11981073 ANK1 ankyrin 1 gene DOID:12971 hereditary spherocytosis ISO RGD:1320055 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant PMID:25741868|PMID:28492532 11981073 ANK1 ankyrin 1 gene DOID:12971 hereditary spherocytosis severity ISO RGD:1320056 D RGD:9068941 20200609 RGD DNA:deletion mutation:exon: PMID:14671619|REF_RGD_ID:11251681 11981073 ANK1 ankyrin 1 gene DOID:224 transient cerebral ischemia ISO RGD:1309620 D RGD:9068941 20200609 RGD PMID:9202331|REF_RGD_ID:1599109 11981073 ANK1 ankyrin 1 gene DOID:2355 anemia ISO RGD:1320055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia PMID:25741868 11981073 ANK1 ankyrin 1 gene DOID:2355 anemia severity ISO RGD:1320055 D RGD:9068941 20200609 RGD associated with Spherocytosis, Hereditary;DNA:nonsense, frameshift,splice mutations:exons,introns: PMID:11372755|REF_RGD_ID:11251706 11981073 ANK1 ankyrin 1 gene DOID:630 genetic disease ISO RGD:1320055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11981073 ANK1 ankyrin 1 gene DOID:9000582 Reticulocytosis severity ISO RGD:1320055 D RGD:9068941 20200609 RGD associated with Spherocytosis, Hereditary;DNA:nonsense, frameshift,splice mutations:exons,introns: PMID:11372755|REF_RGD_ID:11251706 11981073 ANK1 ankyrin 1 gene DOID:9005099 Salmonella Infections, Animal ISO RGD:1320056 D RGD:9068941 20200609 RGD PMID:23390527|REF_RGD_ID:11041609 11981073 ANK1 ankyrin 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1309620 D RGD:9068941 20200609 RGD PMID:9378703|REF_RGD_ID:1599110 11981073 ANK1 ankyrin 1 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1320055 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 11981138 LOC100993657 zinc finger protein 559 gene DOID:12849 autistic disorder ISO RGD:1352023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11981138 LOC100993657 zinc finger protein 559 gene DOID:630 genetic disease ISO RGD:1352023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981138 LOC100993657 zinc finger protein 559 gene DOID:9000217 Stomach Neoplasms ISO RGD:1352023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11981148 GPX5 glutathione peroxidase 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1352844 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11981148 GPX5 glutathione peroxidase 5 gene DOID:11372 megacolon ISO RGD:1352844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11981148 GPX5 glutathione peroxidase 5 gene DOID:630 genetic disease ISO RGD:1352844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981155 ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1602704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11981155 ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1602704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11981155 ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1602704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11981155 ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 gene DOID:1148 polydactyly ISO RGD:1602704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 11981155 ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1602704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11981155 ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 gene DOID:630 genetic disease ISO RGD:1602704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11981155 ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11981189 LOC103783390 protocadherin beta-10 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1343718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11981189 LOC103783390 protocadherin beta-10 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343718 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11981189 LOC103783390 protocadherin beta-10 gene DOID:630 genetic disease ISO RGD:1343718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981189 LOC103783390 protocadherin beta-10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11981189 LOC103783390 protocadherin beta-10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343718 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11981254 ZNHIT1 zinc finger HIT-type containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11981254 ZNHIT1 zinc finger HIT-type containing 1 gene DOID:630 genetic disease ISO RGD:1318185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981263 MTMR3 myotubularin related protein 3 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1343929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 11981263 MTMR3 myotubularin related protein 3 gene DOID:630 genetic disease ISO RGD:1343929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981263 MTMR3 myotubularin related protein 3 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1343929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:21876083|PMID:24713400|PMID:28492532 11981294 CCNJ cyclin J gene DOID:0060027 agammaglobulinemia 4 ISO RGD:1314992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive PMID:28492532 11981294 CCNJ cyclin J gene DOID:630 genetic disease ISO RGD:1314992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981317 TTC34 tetratricopeptide repeat domain 34 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:2293894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11981317 TTC34 tetratricopeptide repeat domain 34 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:2293894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11981317 TTC34 tetratricopeptide repeat domain 34 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:2293894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11981317 TTC34 tetratricopeptide repeat domain 34 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:2293894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11981317 TTC34 tetratricopeptide repeat domain 34 gene DOID:0110994 Joubert syndrome 25 ISO RGD:2293894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11981317 TTC34 tetratricopeptide repeat domain 34 gene DOID:0111934 immunodeficiency 38 ISO RGD:2293894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11981317 TTC34 tetratricopeptide repeat domain 34 gene DOID:0111935 immunodeficiency 16 ISO RGD:2293894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11981317 TTC34 tetratricopeptide repeat domain 34 gene DOID:630 genetic disease ISO RGD:2293894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981317 TTC34 tetratricopeptide repeat domain 34 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2293894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11981317 TTC34 tetratricopeptide repeat domain 34 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:2293894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11981317 TTC34 tetratricopeptide repeat domain 34 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:2293894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11981324 PODXL2 podocalyxin like 2 gene DOID:0111947 immunodeficiency 21 ISO RGD:1347781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 11981324 PODXL2 podocalyxin like 2 gene DOID:630 genetic disease ISO RGD:1347781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981324 PODXL2 podocalyxin like 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 11981324 PODXL2 podocalyxin like 2 gene DOID:9270 alkaptonuria ISO RGD:1347781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11981334 ZC3H4 zinc finger CCCH-type containing 4 gene DOID:630 genetic disease ISO RGD:1316321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981334 ZC3H4 zinc finger CCCH-type containing 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 11981359 GNL3L G protein nucleolar 3 like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11981359 GNL3L G protein nucleolar 3 like gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1346519 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 11981359 GNL3L G protein nucleolar 3 like gene DOID:12849 autistic disorder ISO RGD:1346519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11981359 GNL3L G protein nucleolar 3 like gene DOID:630 genetic disease ISO RGD:1346519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981389 LOC100981662 olfactory receptor 52E1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1346521 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11981394 RUFY2 RUN and FYVE domain containing 2 gene DOID:630 genetic disease ISO RGD:1312074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981433 SCRG1 stimulator of chondrogenesis 1 gene DOID:630 genetic disease ISO RGD:68543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981433 SCRG1 stimulator of chondrogenesis 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11981440 PLCH2 phospholipase C eta 2 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1346590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11981440 PLCH2 phospholipase C eta 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1346590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11981440 PLCH2 phospholipase C eta 2 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1346590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11981440 PLCH2 phospholipase C eta 2 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1346590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11981440 PLCH2 phospholipase C eta 2 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1346590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11981440 PLCH2 phospholipase C eta 2 gene DOID:0111934 immunodeficiency 38 ISO RGD:1346590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11981440 PLCH2 phospholipase C eta 2 gene DOID:0111935 immunodeficiency 16 ISO RGD:1346590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11981440 PLCH2 phospholipase C eta 2 gene DOID:630 genetic disease ISO RGD:1346590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981440 PLCH2 phospholipase C eta 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11981440 PLCH2 phospholipase C eta 2 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1346590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11981440 PLCH2 phospholipase C eta 2 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1346590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11981466 CCDC88B coiled-coil domain containing 88B gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603867 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11981466 CCDC88B coiled-coil domain containing 88B gene DOID:1024 leprosy ISO RGD:1603867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25642632 11981466 CCDC88B coiled-coil domain containing 88B gene DOID:1059 intellectual disability ISO RGD:1603867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11981466 CCDC88B coiled-coil domain containing 88B gene DOID:3070 high grade glioma ISO RGD:1603867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11981466 CCDC88B coiled-coil domain containing 88B gene DOID:630 genetic disease ISO RGD:1603867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981495 CDK11B cyclin dependent kinase 11B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11981495 CDK11B cyclin dependent kinase 11B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604656 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11981495 CDK11B cyclin dependent kinase 11B gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1604656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11981495 CDK11B cyclin dependent kinase 11B gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1604656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11981495 CDK11B cyclin dependent kinase 11B gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1604656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11981495 CDK11B cyclin dependent kinase 11B gene DOID:0110994 Joubert syndrome 25 ISO RGD:1604656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11981495 CDK11B cyclin dependent kinase 11B gene DOID:0111934 immunodeficiency 38 ISO RGD:1604656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11981495 CDK11B cyclin dependent kinase 11B gene DOID:0111935 immunodeficiency 16 ISO RGD:1604656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11981495 CDK11B cyclin dependent kinase 11B gene DOID:1826 epilepsy ISO RGD:1604656 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11981495 CDK11B cyclin dependent kinase 11B gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11981495 CDK11B cyclin dependent kinase 11B gene DOID:630 genetic disease ISO RGD:1604656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981495 CDK11B cyclin dependent kinase 11B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11981495 CDK11B cyclin dependent kinase 11B gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1604656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11981495 CDK11B cyclin dependent kinase 11B gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1604656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11981522 PPP2R3C protein phosphatase 2 regulatory subunit B''gamma gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:1319421 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 PMID:28492532 11981522 PPP2R3C protein phosphatase 2 regulatory subunit B''gamma gene DOID:0111921 spermatogenic failure 36 ISO RGD:1319421 D RGD:7240710 20190529 OMIM 11981522 PPP2R3C protein phosphatase 2 regulatory subunit B''gamma gene DOID:0111921 spermatogenic failure 36 ISO RGD:1319421 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 36 PMID:25741868|PMID:30893644|PMID:34714774|PMID:34750818|PMID:8849014 11981522 PPP2R3C protein phosphatase 2 regulatory subunit B''gamma gene DOID:630 genetic disease ISO RGD:1319421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981522 PPP2R3C protein phosphatase 2 regulatory subunit B''gamma gene DOID:9002447 Myoectodermal Gonadal Dysgenesis Syndrome ISO RGD:1319421 D RGD:7240710 20191023 OMIM 11981522 PPP2R3C protein phosphatase 2 regulatory subunit B''gamma gene DOID:9002447 Myoectodermal Gonadal Dysgenesis Syndrome ISO RGD:1319421 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy PMID:25741868|PMID:30893644|PMID:34714774|PMID:34750818|PMID:35812758|PMID:8849014 11981522 PPP2R3C protein phosphatase 2 regulatory subunit B''gamma gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319421 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11981549 PROZ protein Z, vitamin K dependent plasma glycoprotein gene DOID:1247 blood coagulation disease ISO RGD:1318570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Protein Z deficiency PMID:15626740 11981549 PROZ protein Z, vitamin K dependent plasma glycoprotein gene DOID:1247 blood coagulation disease severity ISO RGD:1318571 D RGD:9068941 20200609 RGD PMID:10829076|REF_RGD_ID:1580102 11981549 PROZ protein Z, vitamin K dependent plasma glycoprotein gene DOID:13241 Behcet's disease ISO RGD:1318570 D RGD:9068941 20200609 RGD PMID:14507116|REF_RGD_ID:1580692 11981549 PROZ protein Z, vitamin K dependent plasma glycoprotein gene DOID:2213 hemorrhagic disease ISO RGD:1318570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 11981549 PROZ protein Z, vitamin K dependent plasma glycoprotein gene DOID:2222 factor X deficiency ISO RGD:1318570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 11981549 PROZ protein Z, vitamin K dependent plasma glycoprotein gene DOID:2316 brain ischemia ISO RGD:1318570 D RGD:9068941 20200609 RGD PMID:14671240|REF_RGD_ID:1358564 11981549 PROZ protein Z, vitamin K dependent plasma glycoprotein gene DOID:630 genetic disease ISO RGD:1318570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981549 PROZ protein Z, vitamin K dependent plasma glycoprotein gene DOID:9003121 Thromboembolism ISO RGD:1318570 D RGD:9068941 20200609 RGD PMID:12970515|REF_RGD_ID:1580693 11981549 PROZ protein Z, vitamin K dependent plasma glycoprotein gene DOID:9003121 Thromboembolism ISO RGD:1318570 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:12297123|REF_RGD_ID:1580720 11981549 PROZ protein Z, vitamin K dependent plasma glycoprotein gene DOID:9007096 Stroke ISO RGD:1318570 D RGD:9068941 20200609 RGD PMID:15879328|REF_RGD_ID:1580691 11981571 ITPKA inositol-trisphosphate 3-kinase A gene DOID:2717 Bloom syndrome ISO RGD:732603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11981571 ITPKA inositol-trisphosphate 3-kinase A gene DOID:630 genetic disease ISO RGD:732603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981571 ITPKA inositol-trisphosphate 3-kinase A gene DOID:9256 colorectal cancer ISO RGD:732603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11981587 MRO maestro gene DOID:1059 intellectual disability ISO RGD:1342837 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11981587 MRO maestro gene DOID:630 genetic disease ISO RGD:1342837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981587 MRO maestro gene DOID:684 hepatocellular carcinoma ISO RGD:1342837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11981587 MRO maestro gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11981627 SIK3 SIK family kinase 3 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1603681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 11981627 SIK3 SIK family kinase 3 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1603681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11981627 SIK3 SIK family kinase 3 gene DOID:0080690 RASopathy ISO RGD:1603681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11981627 SIK3 SIK family kinase 3 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1603681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 11981627 SIK3 SIK family kinase 3 gene DOID:0111123 nephronophthisis 15 ISO RGD:1603681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 11981627 SIK3 SIK family kinase 3 gene DOID:0111971 immunodeficiency 18 ISO RGD:1603681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 11981627 SIK3 SIK family kinase 3 gene DOID:0111972 immunodeficiency 19 ISO RGD:1603681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 11981627 SIK3 SIK family kinase 3 gene DOID:0111973 immunodeficiency 17 ISO RGD:1603681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 11981627 SIK3 SIK family kinase 3 gene DOID:1059 intellectual disability ISO RGD:1603681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11981627 SIK3 SIK family kinase 3 gene DOID:630 genetic disease ISO RGD:1603681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981627 SIK3 SIK family kinase 3 gene DOID:9000975 Spondyloepimetaphyseal Dysplasia, Krakow Type ISO RGD:1603681 D RGD:7240710 20190315 OMIM 11981627 SIK3 SIK family kinase 3 gene DOID:9000975 Spondyloepimetaphyseal Dysplasia, Krakow Type ISO RGD:1603681 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Krakow type PMID:25741868|PMID:28492532|PMID:30232230 11981627 SIK3 SIK family kinase 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11981627 SIK3 SIK family kinase 3 gene DOID:9007661 Dwarfism ISO RGD:1603681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11981667 PIF1 PIF1 5'-to-3' DNA helicase gene DOID:0110935 nemaline myopathy 6 ISO RGD:1316743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11981667 PIF1 PIF1 5'-to-3' DNA helicase gene DOID:2717 Bloom syndrome ISO RGD:1316743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11981667 PIF1 PIF1 5'-to-3' DNA helicase gene DOID:630 genetic disease ISO RGD:1316743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981667 PIF1 PIF1 5'-to-3' DNA helicase gene DOID:9007479 Habitual Abortions ISO RGD:1316743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent spontaneous abortion 11981667 PIF1 PIF1 5'-to-3' DNA helicase gene DOID:9256 colorectal cancer ISO RGD:1316743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11981687 MXD1 MAX dimerization protein 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1353608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 11981687 MXD1 MAX dimerization protein 1 gene DOID:630 genetic disease ISO RGD:1353608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981698 C1GALT1C1 C1GALT1 specific chaperone 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11981698 C1GALT1C1 C1GALT1 specific chaperone 1 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1344219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 11981698 C1GALT1C1 C1GALT1 specific chaperone 1 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1344219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 11981698 C1GALT1C1 C1GALT1 specific chaperone 1 gene DOID:0080520 Tn polyagglutination syndrome ISO RGD:1344219 D RGD:7240710 20180130 OMIM 11981698 C1GALT1C1 C1GALT1 specific chaperone 1 gene DOID:0080520 Tn polyagglutination syndrome ISO RGD:1344219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GALACTOSYLTRANSFERASE DEFICIENCY PMID:16251947|PMID:18537974|PMID:25741868|PMID:28492532 11981698 C1GALT1C1 C1GALT1 specific chaperone 1 gene DOID:12849 autistic disorder ISO RGD:1344219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11981698 C1GALT1C1 C1GALT1 specific chaperone 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1344219 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormal protein O-linked glycosylation PMID:25741868 11981698 C1GALT1C1 C1GALT1 specific chaperone 1 gene DOID:630 genetic disease ISO RGD:1344219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11981705 WFDC1 WAP four-disulfide core domain 1 gene DOID:0080600 COVID-19 ISO RGD:68974 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11981705 WFDC1 WAP four-disulfide core domain 1 gene DOID:10283 prostate cancer ISO RGD:68974 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland PMID:15305342|REF_RGD_ID:2291859 11981705 WFDC1 WAP four-disulfide core domain 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:68974 D RGD:9068941 20200609 RGD protein:decreased expression, increased expression:connective tissue, epithelium PMID:15305341|REF_RGD_ID:2291860 11981705 WFDC1 WAP four-disulfide core domain 1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:68974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 11981705 WFDC1 WAP four-disulfide core domain 1 gene DOID:1909 melanoma ISO RGD:68974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 11981705 WFDC1 WAP four-disulfide core domain 1 gene DOID:630 genetic disease ISO RGD:68974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981717 CASP10 caspase 10 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1347736 D RGD:7240710 20180130 OMIM 11981717 CASP10 caspase 10 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1347736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:11973654|PMID:12010812 11981717 CASP10 caspase 10 gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:1347736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract PMID:16446975|PMID:22995991|PMID:25741868|PMID:28492532 11981717 CASP10 caspase 10 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1347736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11981717 CASP10 caspase 10 gene DOID:0110115 autoimmune lymphoproliferative syndrome type 2A ISO RGD:1347736 D RGD:7240710 20180130 OMIM 11981717 CASP10 caspase 10 gene DOID:0110115 autoimmune lymphoproliferative syndrome type 2A ISO RGD:1347736 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2A PMID:10412980|PMID:11973654|PMID:16199547|PMID:16446975|PMID:17576681|PMID:17999750|PMID:21382177|PMID:22995991|PMID:24033266|PMID:25640679|PMID:25741868|PMID:27535533|PMID:27577878|PMID:27799292|PMID:27872624|PMID:28492532|PMID:34329798|PMID:9536098 11981717 CASP10 caspase 10 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1347736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11981717 CASP10 caspase 10 gene DOID:10534 stomach cancer ISO RGD:1347736 D RGD:7240710 20220209 OMIM 11981717 CASP10 caspase 10 gene DOID:10534 stomach cancer ISO RGD:1347736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:11973654|PMID:12010812|PMID:28492532 11981717 CASP10 caspase 10 gene DOID:1909 melanoma ISO RGD:1347736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18563783 11981717 CASP10 caspase 10 gene DOID:630 genetic disease ISO RGD:1347736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11981717 CASP10 caspase 10 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1347736 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:11973654|PMID:27577878|PMID:27872624|PMID:28492532|PMID:34329798 11981717 CASP10 caspase 10 gene DOID:9000217 Stomach Neoplasms ISO RGD:1347736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of stomach PMID:25741868 11981717 CASP10 caspase 10 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1347736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 11981717 CASP10 caspase 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11981717 CASP10 caspase 10 gene DOID:9004464 Skin Neoplasms ISO RGD:1347736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18563783 11981717 CASP10 caspase 10 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1347736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11981751 SIRT3 sirtuin 3 gene DOID:0060611 abdominal obesity-metabolic syndrome ISO RGD:1318107 D RGD:9068941 20220825 MouseDO 11981751 SIRT3 sirtuin 3 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:1308374 D RGD:9068941 20200609 RGD associated with Obesity PMID:22327056|REF_RGD_ID:9586049 11981751 SIRT3 sirtuin 3 gene DOID:0111969 immunodeficiency 39 ISO RGD:1318106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11981751 SIRT3 sirtuin 3 gene DOID:10652 Alzheimer's disease ISO RGD:1318106 D RGD:9068941 20200609 RGD mRNA:increased expression:temporal cortex PMID:23139766|REF_RGD_ID:9586045 11981751 SIRT3 sirtuin 3 gene DOID:10652 Alzheimer's disease ISO RGD:1318107 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:23139766|REF_RGD_ID:9586045 11981751 SIRT3 sirtuin 3 gene DOID:11714 gestational diabetes ISO RGD:1318106 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23956348 11981751 SIRT3 sirtuin 3 gene DOID:11716 prediabetes syndrome ISO RGD:1308374 D RGD:9068941 20200609 RGD protein:decreased expression:testis PMID:24361842|REF_RGD_ID:9586046 11981751 SIRT3 sirtuin 3 gene DOID:1749 squamous cell carcinoma ISO RGD:1318106 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472714 11981751 SIRT3 sirtuin 3 gene DOID:5844 myocardial infarction treatment ISO RGD:1308374 D RGD:9068941 20200609 RGD PMID:24471974|REF_RGD_ID:9586050 11981751 SIRT3 sirtuin 3 gene DOID:6000 congestive heart failure ISO RGD:1308374 D RGD:9068941 20200609 RGD protein:decreased expression:heart left ventricle PMID:22155497|REF_RGD_ID:9586040 11981751 SIRT3 sirtuin 3 gene DOID:630 genetic disease ISO RGD:1318106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981751 SIRT3 sirtuin 3 gene DOID:9000307 Presbycusis ISO RGD:1308374 D RGD:9068941 20200609 RGD protein:decreased expression:auditory cortex: PMID:24505357|REF_RGD_ID:8158103 11981751 SIRT3 sirtuin 3 gene DOID:9007364 Mouth Neoplasms ISO RGD:1318106 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472714 11981751 SIRT3 sirtuin 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1318106 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet PMID:23397292|REF_RGD_ID:9586042 11981751 SIRT3 sirtuin 3 gene DOID:9970 obesity ISO RGD:1308374 D RGD:9068941 20200609 RGD PMID:21901160|REF_RGD_ID:9586047 11981751 SIRT3 sirtuin 3 gene DOID:9970 obesity ISO RGD:1318106 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23956348 11981779 TIMM17A translocase of inner mitochondrial membrane 17A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:733790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11981779 TIMM17A translocase of inner mitochondrial membrane 17A gene DOID:1540 parathyroid carcinoma ISO RGD:733790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11981779 TIMM17A translocase of inner mitochondrial membrane 17A gene DOID:630 genetic disease ISO RGD:733790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981779 TIMM17A translocase of inner mitochondrial membrane 17A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:733790 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11981779 TIMM17A translocase of inner mitochondrial membrane 17A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11981791 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:0050469 Costello syndrome ISO RGD:1343460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17703371 11981791 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:1343460 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome PMID:16439621|PMID:17981815|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:19376813|PMID:20358587|PMID:23885229|PMID:24033266|PMID:24265153|PMID:25487361|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29493581|PMID:33452774 11981791 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:27799067 11981791 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1343460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11981791 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:0080690 RASopathy ISO RGD:1343460 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: RASopathy PMID:15175348|PMID:16199547|PMID:16439621|PMID:17366577|PMID:17576681|PMID:17981815|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18470943|PMID:19156172|PMID:19376813|PMID:21178588|PMID:22558107|PMID:22589294|PMID:22753777|PMID:23885229|PMID:24033266|PMID:24265153|PMID:24719372|PMID:24803665|PMID:24896146|PMID:25326637|PMID:25487361|PMID:25621899|PMID:25640679|PMID:25741868|PMID:25802880|PMID:25974318|PMID:26580448|PMID:27763634|PMID:28492532|PMID:28798025|PMID:29493581|PMID:29625052|PMID:29654263|PMID:29696744|PMID:29907801|PMID:30050098|PMID:30095857|PMID:30762279|PMID:30773290|PMID:32901917|PMID:33452774|PMID:9536098 11981791 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:0111152 multicentric Castleman disease ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TAFRO syndrome 11981791 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:0111460 cardiofaciocutaneous syndrome 1 ISO RGD:1343460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 PMID:17366577|PMID:24719372|PMID:25326637|PMID:25741868|PMID:28492532 11981791 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:0111463 cardiofaciocutaneous syndrome 4 ISO RGD:1343460 D RGD:7240710 20180130 OMIM 11981791 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:0111463 cardiofaciocutaneous syndrome 4 ISO RGD:1343460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 4 PMID:15175348|PMID:16439621|PMID:17366577|PMID:17576681|PMID:17981815|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:19156172|PMID:19376813|PMID:20358587|PMID:21178588|PMID:22753777|PMID:23885229|PMID:24033266|PMID:24265153|PMID:24719372|PMID:24803665|PMID:25326637|PMID:25487361|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29493581|PMID:29625052|PMID:29696744|PMID:29907801|PMID:30050098|PMID:30773290|PMID:32901917|PMID:9536098 11981791 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:0111683 neurofibromatosis-Noonan syndrome ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome PMID:28492532 11981791 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 11981791 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:13938 amenorrhea ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11981791 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines PMID:17366577|PMID:24033266|PMID:24719372|PMID:28492532|PMID:30773290 11981791 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:1612 breast cancer ISO RGD:1343460 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:tumor PMID:10216485|REF_RGD_ID:2292627 11981791 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:1909 melanoma ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melanoma PMID:24265153|PMID:24265154|PMID:25487361|PMID:28492532 11981791 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:3068 glioblastoma treatment ISO RGD:1343460 D RGD:9068941 20200609 RGD PMID:26189368|REF_RGD_ID:13702862 11981791 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:3490 Noonan syndrome ISO RGD:1343460 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:17981815|PMID:18039235|PMID:18413255|PMID:19376813|PMID:22753777|PMID:23885229|PMID:24033266|PMID:25741868|PMID:25802880|PMID:28492532|PMID:29493581|PMID:29696744|PMID:30050098|PMID:30762279|PMID:33452774 11981791 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:3717 gastric adenocarcinoma ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:18042262|PMID:26619011 11981791 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1550208 D RGD:9068941 20211210 RGD PMID:21514245|REF_RGD_ID:150530476 11981791 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:18042262|PMID:26619011 11981791 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:4906 small intestine adenocarcinoma ISO RGD:1343460 D RGD:9068941 20200609 RGD PMID:19014680|REF_RGD_ID:13464351 11981791 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:18042262|PMID:26619011 11981791 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:630 genetic disease ISO RGD:1343460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11981791 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:6364 migraine ISO RGD:1343460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Migraine PMID:25741868|PMID:28492532 11981791 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:61888 D RGD:9068941 20211210 RGD protein:increased expression:liver, cytosol (rat) PMID:9397988|REF_RGD_ID:150530477 11981791 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1343460 D RGD:9068941 20211210 RGD mRNA:increased expression:liver (human) PMID:33553243|REF_RGD_ID:150530475 11981791 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:8923 skin melanoma ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:18042262|PMID:26619011 11981791 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343460 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32512071 11981791 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1343460 D RGD:9068941 20200609 RGD PMID:18060073|REF_RGD_ID:2298686 11981791 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:1343460 D RGD:9068941 20221222 RGD mRNA:decreased expression:blood, leukocyte (human) PMID:26956845|REF_RGD_ID:155791561 11981791 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:9256 colorectal cancer ISO RGD:1343460 D RGD:9068941 20211210 RGD mRNA:decreased expression:colorectum (human) PMID:28000901|REF_RGD_ID:150530480 11981808 WDPCP WD repeat containing planar cell polarity effector gene DOID:0050777 Joubert syndrome ISO RGD:1603046 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:27158779|PMID:28492532 11981808 WDPCP WD repeat containing planar cell polarity effector gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1603046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:25741868|PMID:28492532 11981808 WDPCP WD repeat containing planar cell polarity effector gene DOID:0110137 Bardet-Biedl syndrome 15 ISO RGD:1603046 D RGD:7240710 20180130 OMIM 11981808 WDPCP WD repeat containing planar cell polarity effector gene DOID:0110137 Bardet-Biedl syndrome 15 ISO RGD:1603046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 15 PMID:16199547|PMID:17576681|PMID:20671153|PMID:25326635|PMID:25427950|PMID:25741868|PMID:27158779|PMID:28289185|PMID:28492532|PMID:32860008|PMID:9536098 11981808 WDPCP WD repeat containing planar cell polarity effector gene DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly ISO RGD:1603046 D RGD:7240710 20180130 OMIM 11981808 WDPCP WD repeat containing planar cell polarity effector gene DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly ISO RGD:1603046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart defect - tongue hamartoma - polysyndactyly syndrome PMID:17576681|PMID:20671153|PMID:25326635|PMID:25427950|PMID:25741868|PMID:27158779|PMID:28289185|PMID:28492532|PMID:9536098 11981808 WDPCP WD repeat containing planar cell polarity effector gene DOID:0112222 developmental and epileptic encephalopathy 88 ISO RGD:1603046 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 88 PMID:31538237 11981808 WDPCP WD repeat containing planar cell polarity effector gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1603046 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16199547|PMID:17576681|PMID:20671153|PMID:25326635|PMID:25427950|PMID:25640679|PMID:25741868|PMID:27158779|PMID:28289185|PMID:28492532|PMID:29588463|PMID:33046855|PMID:9536098 11981808 WDPCP WD repeat containing planar cell polarity effector gene DOID:4501 orofaciodigital syndrome ISO RGD:1603046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome PMID:17576681|PMID:20671153|PMID:25326635|PMID:25427950|PMID:25741868|PMID:27158779|PMID:28289185|PMID:28492532|PMID:9536098 11981808 WDPCP WD repeat containing planar cell polarity effector gene DOID:630 genetic disease ISO RGD:1603046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20671153|PMID:25427950|PMID:25741868|PMID:27158779|PMID:28492532|PMID:33046855 11981846 ATG4D autophagy related 4D cysteine peptidase gene DOID:0050753 cerebellar ataxia ISO RGD:12101885 D RGD:9068941 20210604 OMIA Neurodegenerative vacuolar storage disease PMID:25875846|PMID:28583040|PMID:33016245 11981846 ATG4D autophagy related 4D cysteine peptidase gene DOID:630 genetic disease ISO RGD:1348604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981865 OBP2B odorant binding protein 2B gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1347589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11981865 OBP2B odorant binding protein 2B gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1347589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11981865 OBP2B odorant binding protein 2B gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1347589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11981865 OBP2B odorant binding protein 2B gene DOID:0081097 Rafiq syndrome ISO RGD:1347589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11981865 OBP2B odorant binding protein 2B gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1347589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11981865 OBP2B odorant binding protein 2B gene DOID:3652 Leigh disease ISO RGD:1347589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11981865 OBP2B odorant binding protein 2B gene DOID:630 genetic disease ISO RGD:1347589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981879 CCL13 C-C motif chemokine ligand 13 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1319498 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28434932 11981879 CCL13 C-C motif chemokine ligand 13 gene DOID:1205 allergic disease ISO RGD:1319498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11981879 CCL13 C-C motif chemokine ligand 13 gene DOID:2316 brain ischemia ISO RGD:1319498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 11981879 CCL13 C-C motif chemokine ligand 13 gene DOID:2377 multiple sclerosis ISO RGD:1353724 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:intron, 3' utr:c.77-105T>C, c.*856T>C (rs159313, rs2072070) (human) PMID:19865101|REF_RGD_ID:4145472 11981879 CCL13 C-C motif chemokine ligand 13 gene DOID:552 pneumonia ISO RGD:1319498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 11981879 CCL13 C-C motif chemokine ligand 13 gene DOID:630 genetic disease ISO RGD:1353724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981879 CCL13 C-C motif chemokine ligand 13 gene DOID:684 hepatocellular carcinoma ISO RGD:1319498 D RGD:9068941 20210423 RGD mRNA:increased expression:liver (mouse) PMID:26569409|REF_RGD_ID:11344640 11981879 CCL13 C-C motif chemokine ligand 13 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1309255 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:9698165|REF_RGD_ID:5135274 11981879 CCL13 C-C motif chemokine ligand 13 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1319498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12388339 11981879 CCL13 C-C motif chemokine ligand 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11981886 GRAMD1A GRAM domain containing 1A gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1322253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11981886 GRAMD1A GRAM domain containing 1A gene DOID:630 genetic disease ISO RGD:1322253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981934 KDM4A lysine demethylase 4A gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1314960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11981934 KDM4A lysine demethylase 4A gene DOID:10283 prostate cancer ISO RGD:1314960 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate (human) PMID:22120715|REF_RGD_ID:9586733 11981934 KDM4A lysine demethylase 4A gene DOID:11054 urinary bladder cancer ISO RGD:1314960 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder (human) PMID:23603248|REF_RGD_ID:9587435 11981934 KDM4A lysine demethylase 4A gene DOID:1324 lung cancer ISO RGD:1314960 D RGD:9068941 20200609 RGD protein:increased expression:lung (human) PMID:23168260|REF_RGD_ID:9587434 11981934 KDM4A lysine demethylase 4A gene DOID:1612 breast cancer severity ISO RGD:1314960 D RGD:9068941 20200609 RGD mRNA:altered expression:breast (human) PMID:22199269|REF_RGD_ID:9586031 11981934 KDM4A lysine demethylase 4A gene DOID:1909 melanoma ISO RGD:1314960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 11981934 KDM4A lysine demethylase 4A gene DOID:5517 stomach carcinoma severity ISO RGD:1314960 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:gastric mucosa (human) PMID:24802408|REF_RGD_ID:9587437 11981934 KDM4A lysine demethylase 4A gene DOID:630 genetic disease ISO RGD:1314960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981934 KDM4A lysine demethylase 4A gene DOID:9003936 Cardiomegaly ISO RGD:1314961 D RGD:9068941 20200609 RGD PMID:21555854|REF_RGD_ID:9587422 11981934 KDM4A lysine demethylase 4A gene DOID:986 alopecia areata ISO RGD:1314960 D RGD:9068941 20200609 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:21936853|REF_RGD_ID:9587460 11981972 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1346246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26457647 11981972 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27992414 11981972 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346246 D RGD:9068941 20220114 RGD DNA:missense mutation:multiple (human) PMID:25586593|PMID:28942350|REF_RGD_ID:151232290|REF_RGD_ID:151232291 11981972 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346246 D RGD:9068941 20220114 RGD DNA:missense mutations:multiple (human) PMID:22343920|REF_RGD_ID:151232292 11981972 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346246 D RGD:9068941 20220121 RGD PMID:28220884|REF_RGD_ID:151347177 11981972 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11981972 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1346246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 11981972 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:12849 autistic disorder ISO RGD:1346246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11981972 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:13636 Fanconi anemia ISO RGD:1346246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 11981972 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:4621 holoprosencephaly ISO RGD:1346246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:25679214|PMID:25741868|PMID:31680349 11981972 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:630 genetic disease ISO RGD:1346246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981972 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:9003273 Chromosome 8, Trisomy ISO RGD:1346246 D RGD:9068941 20220121 RGD PMID:28220884|REF_RGD_ID:151347177 11981972 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:9003890 X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia ISO RGD:1346246 D RGD:9068941 20220114 RGD DNA:missense mutation:multiple (human) PMID:28942350|REF_RGD_ID:151232291 11981972 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11981972 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1346246 D RGD:9068941 20220121 RGD DNA:missense mutations:multiple (human) PMID:25550361|REF_RGD_ID:151232299 11981972 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1346246 D RGD:9068941 20220121 RGD associated with aging PMID:32027246|REF_RGD_ID:151347178 11981994 FOXR1 forkhead box R1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1320240 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11981994 FOXR1 forkhead box R1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1320240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11981994 FOXR1 forkhead box R1 gene DOID:0080690 RASopathy ISO RGD:1320240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11981994 FOXR1 forkhead box R1 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1320240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 11981994 FOXR1 forkhead box R1 gene DOID:0110651 long QT syndrome 10 ISO RGD:1320240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11981994 FOXR1 forkhead box R1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1320240 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11981994 FOXR1 forkhead box R1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1320240 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11981994 FOXR1 forkhead box R1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1320240 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11981994 FOXR1 forkhead box R1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1320240 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11981994 FOXR1 forkhead box R1 gene DOID:630 genetic disease ISO RGD:1320240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11981994 FOXR1 forkhead box R1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1320240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11981994 FOXR1 forkhead box R1 gene DOID:9007661 Dwarfism ISO RGD:1320240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11982004 ADGRL3 adhesion G protein-coupled receptor L3 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1353351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22405201 11982004 ADGRL3 adhesion G protein-coupled receptor L3 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1553247 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 11982004 ADGRL3 adhesion G protein-coupled receptor L3 gene DOID:630 genetic disease ISO RGD:1353351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982004 ADGRL3 adhesion G protein-coupled receptor L3 gene DOID:9004009 Reperfusion Injury ISO RGD:620836 D RGD:9068941 20200609 RGD PMID:12225880|REF_RGD_ID:2314400 11982004 ADGRL3 adhesion G protein-coupled receptor L3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11982051 LOC100983880 cadherin-23 gene DOID:0050439 Usher syndrome ISO RGD:733851 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:12522556|PMID:15353998|PMID:15537665|PMID:15660226|PMID:16199547|PMID:16281288|PMID:16679490|PMID:16963483|PMID:17407589|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18323324|PMID:18348277|PMID:18368581|PMID:18429043|PMID:18484607|PMID:19375528|PMID:19683999|PMID:20146813|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21078986|PMID:21174530|PMID:21228398|PMID:21436283|PMID:21569298|PMID:21738395|PMID:21940737|PMID:22135276|PMID:22443853|PMID:22607986|PMID:2289998|PMID:22899989|PMID:22995991|PMID:23208854|PMID:23451239|PMID:23591405|PMID:23757202|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24164807|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24767429|PMID:24875298|PMID:25231367|PMID:25262649|PMID:25279224|PMID:25333064|PMID:25356970|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25587757|PMID:25605338|PMID:25741868|PMID:25788563|PMID:25963016|PMID:25991456|PMID:26226137|PMID:26264712|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26681316|PMID:26763877|PMID:26969326|PMID:27018795|PMID:2706105|PMID:27068579|PMID:27349180|PMID:27460420|PMID:27583405|PMID:27743452|PMID:27792758|PMID:27884173|PMID:28483220|PMID:28492532|PMID:28501645|PMID:28847902|PMID:28912962|PMID:29148562|PMID:29343940|PMID:29986705|PMID:30029624|PMID:30033219|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:30459346|PMID:30718709|PMID:30733538|PMID:31054281|PMID:31152317|PMID:31445392|PMID:32467589|PMID:32645618|PMID:32747562|PMID:32842620|PMID:32991204|PMID:34837038|PMID:35020051|PMID:35186827|PMID:35802133|PMID:36633841|PMID:9536098 11982051 LOC100983880 cadherin-23 gene DOID:0050563 nonsyndromic deafness ISO RGD:733851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:15660226|PMID:16679490|PMID:17850630|PMID:18429043|PMID:19683999|PMID:21078986|PMID:21228398|PMID:21569298|PMID:22135276|PMID:22443853|PMID:22899989|PMID:22995991|PMID:23208854|PMID:23967202|PMID:24033266|PMID:24164807|PMID:24416283|PMID:24618850|PMID:24767429|PMID:25279224|PMID:25474345|PMID:25741868|PMID:25963016|PMID:26264712|PMID:26467025|PMID:26763877|PMID:27460420|PMID:27583405|PMID:27792758|PMID:28492532|PMID:29343940|PMID:30029624|PMID:30311386|PMID:30367262|PMID:30718709|PMID:32467589|PMID:32860223 11982051 LOC100983880 cadherin-23 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:733851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:15353998|PMID:16199547|PMID:16679490|PMID:17407589|PMID:18429043|PMID:19683999|PMID:20513143|PMID:20613545|PMID:21436283|PMID:21569298|PMID:21940737|PMID:22899989|PMID:23804846|PMID:24033266|PMID:24498627|PMID:25404053|PMID:25741868|PMID:25963016|PMID:26763877|PMID:27573290|PMID:28492532|PMID:29148562|PMID:30303587|PMID:31445392|PMID:32645618|PMID:32842620|PMID:8894709 11982051 LOC100983880 cadherin-23 gene DOID:0080046 Stickler syndrome ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stickler syndrome PMID:28492532|PMID:30311386 11982051 LOC100983880 cadherin-23 gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:733851 D RGD:7240710 20180130 OMIM 11982051 LOC100983880 cadherin-23 gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:733851 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:12522556|PMID:12910270|PMID:15353998|PMID:15537665|PMID:15660226|PMID:15829536|PMID:16199547|PMID:16281288|PMID:16679490|PMID:16963483|PMID:17407589|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18323324|PMID:18348277|PMID:18368581|PMID:18429043|PMID:18484607|PMID:19375528|PMID:19683999|PMID:19888295|PMID:20146813|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21078986|PMID:21174530|PMID:21228398|PMID:21436283|PMID:21569298|PMID:21738395|PMID:21917145|PMID:21940737|PMID:22135276|PMID:22443853|PMID:22607986|PMID:2289998|PMID:22899989|PMID:22995991|PMID:23208854|PMID:23451239|PMID:23591405|PMID:23757202|PMID:23804846|PMID:23967202|PMID:24006325|PMID:24033266|PMID:24164807|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24767429|PMID:24875298|PMID:25231367|PMID:25262649|PMID:25279224|PMID:25333064|PMID:25356970|PMID:25373420|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25587757|PMID:25605338|PMID:25741868|PMID:25788563|PMID:25963016|PMID:26226137|PMID:26264712|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26633542|PMID:26763877|PMID:26969326|PMID:27018795|PMID:2706105|PMID:27068579|PMID:27349180|PMID:27460420|PMID:27583405|PMID:27583663|PMID:27610647|PMID:27743452|PMID:27792758|PMID:27884173|PMID:28383030|PMID:28483220|PMID:28492532|PMID:28501645|PMID:28847902|PMID:28912962|PMID:29148562|PMID:29343940|PMID:29568747|PMID:29889784|PMID:29986705|PMID:30029624|PMID:30033219|PMID:30123251|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:30459346|PMID:30622556|PMID:30718709|PMID:30733538|PMID:31054281|PMID:31152317|PMID:31445392|PMID:31541171|PMID:31850270|PMID:32238869|PMID:32467589|PMID:32747562|PMID:32842620|PMID:32860223|PMID:32991204|PMID:34906502|PMID:35020051|PMID:35186827|PMID:35802133|PMID:36633841|PMID:9536098 11982051 LOC100983880 cadherin-23 gene DOID:0110826 Usher syndrome type 1 ISO RGD:733851 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:12522556|PMID:15353998|PMID:15537665|PMID:15660226|PMID:16199547|PMID:16281288|PMID:16679490|PMID:16963483|PMID:17407589|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18323324|PMID:18348277|PMID:18368581|PMID:18429043|PMID:18484607|PMID:19375528|PMID:19683999|PMID:20146813|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21078986|PMID:21228398|PMID:21436283|PMID:21569298|PMID:21738395|PMID:21940737|PMID:22135276|PMID:22443853|PMID:22607986|PMID:2289998|PMID:22899989|PMID:22995991|PMID:23208854|PMID:23451239|PMID:23591405|PMID:23757202|PMID:23767834|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24164807|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24767429|PMID:24875298|PMID:25211151|PMID:25231367|PMID:25262649|PMID:25279224|PMID:25356970|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25587757|PMID:25605338|PMID:25741868|PMID:25788563|PMID:25963016|PMID:25991456|PMID:26226137|PMID:26264712|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26763877|PMID:26969326|PMID:2706105|PMID:27068579|PMID:27349180|PMID:27460420|PMID:27583405|PMID:27583663|PMID:27610647|PMID:27743452|PMID:27792758|PMID:27884173|PMID:28383030|PMID:28413019|PMID:28483220|PMID:28492532|PMID:28847902|PMID:28912962|PMID:29148562|PMID:29343940|PMID:29986705|PMID:30029624|PMID:30033219|PMID:30123251|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:30459346|PMID:30718709|PMID:30733538|PMID:31054281|PMID:31152317|PMID:31231422|PMID:31445392|PMID:32467589|PMID:32645618|PMID:32991204|PMID:33316915|PMID:33924653|PMID:34837038|PMID:35020051|PMID:35186827|PMID:9536098 11982051 LOC100983880 cadherin-23 gene DOID:0110827 Usher syndrome type 2 ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2 PMID:25741868 11982051 LOC100983880 cadherin-23 gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:733851 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome PMID:12075507|PMID:16963483|PMID:18429043|PMID:19683999|PMID:21174530|PMID:21228398|PMID:21569298|PMID:22135276|PMID:22995991|PMID:24033266|PMID:25474345|PMID:25741868|PMID:26467025|PMID:26969326|PMID:27018795|PMID:28492532|PMID:30029624|PMID:30718709 11982051 LOC100983880 cadherin-23 gene DOID:0110831 Usher syndrome type 1D ISO RGD:733851 D RGD:7240710 20180130 OMIM 11982051 LOC100983880 cadherin-23 gene DOID:0110831 Usher syndrome type 1D ISO RGD:733851 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:12522556|PMID:15353998|PMID:15537665|PMID:15660226|PMID:16199547|PMID:16281288|PMID:16679490|PMID:16963483|PMID:17407589|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18323324|PMID:18348277|PMID:18368581|PMID:18429043|PMID:18484607|PMID:19375528|PMID:19683999|PMID:20146813|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21078986|PMID:21174530|PMID:21228398|PMID:21436283|PMID:21569298|PMID:21940737|PMID:22135276|PMID:22443853|PMID:22607986|PMID:2289998|PMID:22899989|PMID:22995991|PMID:23208854|PMID:23451239|PMID:23591405|PMID:23757202|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24164807|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24767429|PMID:24875298|PMID:25231367|PMID:25262649|PMID:25279224|PMID:25333064|PMID:25356970|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25587757|PMID:25605338|PMID:25741868|PMID:25788563|PMID:25963016|PMID:25991456|PMID:26226137|PMID:26264712|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26633542|PMID:26763877|PMID:26969326|PMID:27018795|PMID:2706105|PMID:27068579|PMID:27349180|PMID:27460420|PMID:27583405|PMID:27610647|PMID:27743452|PMID:27792758|PMID:27884173|PMID:28383030|PMID:28483220|PMID:28492532|PMID:28501645|PMID:28847902|PMID:28912962|PMID:29148562|PMID:29343940|PMID:29986705|PMID:30029624|PMID:30033219|PMID:30123251|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30774966|PMID:31054281|PMID:31152317|PMID:31231422|PMID:31445392|PMID:31541171|PMID:31546658|PMID:32467589|PMID:32747562|PMID:32991204|PMID:34906502|PMID:35020051|PMID:35186827|PMID:9536098 11982051 LOC100983880 cadherin-23 gene DOID:0110838 Usher syndrome type 2A ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:12075507|PMID:12522556|PMID:15353998|PMID:21940737|PMID:24033266|PMID:25741868|PMID:2706105|PMID:27460420|PMID:28492532 11982051 LOC100983880 cadherin-23 gene DOID:0110961 atypical Gaucher's disease due to saposin C deficiency ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency PMID:25741868|PMID:28492532 11982051 LOC100983880 cadherin-23 gene DOID:0111330 combined saposin deficiency ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency PMID:18429043|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 11982051 LOC100983880 cadherin-23 gene DOID:0112008 pituitary adenoma 5 ISO RGD:733851 D RGD:7240710 20190315 OMIM 11982051 LOC100983880 cadherin-23 gene DOID:0112008 pituitary adenoma 5 ISO RGD:733851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:15353998|PMID:15537665|PMID:15660226|PMID:16281288|PMID:16679490|PMID:17407589|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18323324|PMID:18368581|PMID:18429043|PMID:18484607|PMID:19683999|PMID:20146813|PMID:20513143|PMID:20613545|PMID:21228398|PMID:21436283|PMID:21569298|PMID:21940737|PMID:22135276|PMID:22443853|PMID:22899989|PMID:22995991|PMID:23451239|PMID:23591405|PMID:23757202|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24164807|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24767429|PMID:24875298|PMID:25231367|PMID:25279224|PMID:25333064|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25587757|PMID:25605338|PMID:25741868|PMID:25788563|PMID:25963016|PMID:26226137|PMID:26264712|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26763877|PMID:26969326|PMID:27068579|PMID:27349180|PMID:27583405|PMID:27743452|PMID:27792758|PMID:27884173|PMID:28383030|PMID:28413019|PMID:28483220|PMID:28492532|PMID:28847902|PMID:29148562|PMID:29986705|PMID:30029624|PMID:30033219|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:30459346|PMID:30718709|PMID:31054281|PMID:31152317|PMID:31541171|PMID:32467589|PMID:32991204|PMID:35020051|PMID:35186827|PMID:9536098 11982051 LOC100983880 cadherin-23 gene DOID:10003 sensorineural hearing loss ISO RGD:733851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:22899989|PMID:25741868|PMID:25963016|PMID:26763877|PMID:28492532|PMID:30303587 11982051 LOC100983880 cadherin-23 gene DOID:10316 pneumoconiosis ISO RGD:733851 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 11982051 LOC100983880 cadherin-23 gene DOID:10581 metachromatic leukodystrophy ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:18429043|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 11982051 LOC100983880 cadherin-23 gene DOID:10584 retinitis pigmentosa ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:18429043|PMID:21228398|PMID:21569298|PMID:22135276|PMID:22995991|PMID:24033266|PMID:24416283|PMID:25474345|PMID:25741868|PMID:28492532|PMID:30029624|PMID:30718709 11982051 LOC100983880 cadherin-23 gene DOID:10587 Krabbe disease ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:18429043|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 11982051 LOC100983880 cadherin-23 gene DOID:3633 beta-mannosidosis ISO RGD:733851 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:25741868|PMID:28492532|PMID:30311386 11982051 LOC100983880 cadherin-23 gene DOID:5679 retinal disease ISO RGD:733852 D RGD:9068941 20200609 RGD PMID:14609561|REF_RGD_ID:8662280 11982051 LOC100983880 cadherin-23 gene DOID:630 genetic disease ISO RGD:733851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11090341|PMID:11138009|PMID:12075507|PMID:16281288|PMID:17850630|PMID:18273900|PMID:18368581|PMID:18484607|PMID:20613545|PMID:21940737|PMID:24033266|PMID:24416283|PMID:25356970|PMID:25468891|PMID:25472526|PMID:25741868|PMID:26399936|PMID:26467025|PMID:26969326|PMID:27349180|PMID:27743452|PMID:28492532|PMID:28501645|PMID:29986705|PMID:30311386|PMID:32747562|PMID:32991204|PMID:34837038|PMID:35186827 11982051 LOC100983880 cadherin-23 gene DOID:8501 fundus dystrophy ISO RGD:733851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11138009|PMID:12075507|PMID:16199547|PMID:18273900|PMID:18429043|PMID:18484607|PMID:20613545|PMID:21940737|PMID:24033266|PMID:25211151|PMID:25468891|PMID:25472526|PMID:25741868|PMID:26399936|PMID:26467025|PMID:26969326|PMID:27208204|PMID:28492532|PMID:30311386|PMID:30718709|PMID:31546658|PMID:32141364|PMID:32991204|PMID:35020051|PMID:35186827 11982051 LOC100983880 cadherin-23 gene DOID:9000307 Presbycusis ISO RGD:733852 D RGD:9068941 20200609 RGD PMID:12910270|REF_RGD_ID:737781 11982051 LOC100983880 cadherin-23 gene DOID:9000307 Presbycusis no_association ISO RGD:733851 D RGD:9068941 20200609 RGD DNA:SNP:intron:g.72996763C>T (rs7087735) (human) PMID:22581638|REF_RGD_ID:8662287 11982051 LOC100983880 cadherin-23 gene DOID:9001061 Atypical Krabbe Disease due to Saposin A Deficiency ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency PMID:25741868|PMID:28492532 11982051 LOC100983880 cadherin-23 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:733851 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1227049, rs3802711 (human) PMID:16598924|REF_RGD_ID:8662283 11982051 LOC100983880 cadherin-23 gene DOID:9002910 Hearing Loss, Noise-Induced no_association ISO RGD:733851 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1227049, rs1227051 (human) PMID:16598924|REF_RGD_ID:8662283 11982051 LOC100983880 cadherin-23 gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:733851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:12522556|PMID:15353998|PMID:15537665|PMID:15660226|PMID:16281288|PMID:16679490|PMID:16963483|PMID:17407589|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18323324|PMID:18348277|PMID:18368581|PMID:18429043|PMID:18484607|PMID:19375528|PMID:19683999|PMID:20146813|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21078986|PMID:21228398|PMID:21436283|PMID:21569298|PMID:21738395|PMID:21940737|PMID:22135276|PMID:22443853|PMID:22607986|PMID:2289998|PMID:22899989|PMID:22995991|PMID:23208854|PMID:23451239|PMID:23591405|PMID:23757202|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24164807|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24767429|PMID:24875298|PMID:25231367|PMID:25262649|PMID:25279224|PMID:25356970|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25587757|PMID:25605338|PMID:25741868|PMID:25788563|PMID:25963016|PMID:25991456|PMID:26226137|PMID:26264712|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26763877|PMID:26969326|PMID:2706105|PMID:27068579|PMID:27349180|PMID:27460420|PMID:27583405|PMID:27743452|PMID:27792758|PMID:27884173|PMID:28483220|PMID:28492532|PMID:28847902|PMID:28912962|PMID:29148562|PMID:29343940|PMID:29986705|PMID:30029624|PMID:30033219|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:30459346|PMID:30718709|PMID:30733538|PMID:31054281|PMID:31152317|PMID:31445392|PMID:32467589|PMID:32645618|PMID:32991204|PMID:34837038|PMID:35020051|PMID:35186827|PMID:9536098 11982051 LOC100983880 cadherin-23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:12075507|PMID:16963483|PMID:19683999|PMID:21174530|PMID:24033266|PMID:25741868|PMID:26969326|PMID:27018795|PMID:28492532 11982051 LOC100983880 cadherin-23 gene DOID:9004538 Hearing Loss ISO RGD:733851 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:18429043|PMID:21117948|PMID:24033266|PMID:25404053|PMID:25741868|PMID:26467025|PMID:27068579|PMID:28492532|PMID:30245029|PMID:30311386 11982051 LOC100983880 cadherin-23 gene DOID:9004615 Metachromatic Leukodystrophy due to Saposin B Deficiency ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy due to saposin B deficiency | ClinVar Annotator: match by term: Saposin B Deficiency PMID:25741868|PMID:28492532 11982051 LOC100983880 cadherin-23 gene DOID:9006896 Usher Syndrome, Type ID/F ISO RGD:733851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC PMID:11138009|PMID:12075507|PMID:15537665|PMID:15660226|PMID:21940737|PMID:24033266|PMID:25741868|PMID:28492532 11982051 LOC100983880 cadherin-23 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:733851 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment PMID:18429043|PMID:21228398|PMID:21569298|PMID:22135276|PMID:22995991|PMID:24033266|PMID:25474345|PMID:25741868|PMID:28492532|PMID:30029624|PMID:30718709 11982051 LOC100983880 cadherin-23 gene DOID:9008681 Deafness ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 11982051 LOC100983880 cadherin-23 gene DOID:9849 Meniere's disease ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:18429043|PMID:24033266|PMID:25741868|PMID:28492532 11982142 CCDC57 coiled-coil domain containing 57 gene DOID:630 genetic disease ISO RGD:1605253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982161 PLA2G15 phospholipase A2 group XV gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1344350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11982161 PLA2G15 phospholipase A2 group XV gene DOID:0080600 COVID-19 ISO RGD:1344350 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11982161 PLA2G15 phospholipase A2 group XV gene DOID:2349 arteriosclerosis ISO RGD:1552207 D RGD:9068941 20200609 RGD PMID:15781238|REF_RGD_ID:1582126 11982161 PLA2G15 phospholipase A2 group XV gene DOID:630 genetic disease ISO RGD:1344350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982172 TRAM1L1 translocation associated membrane protein 1 like 1 gene DOID:630 genetic disease ISO RGD:1314990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982172 TRAM1L1 translocation associated membrane protein 1 like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11982177 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:0050860 colorectal adenoma ameliorates ISO RGD:1312524 D RGD:9068941 20220204 RGD protein:increased expression:colorectal mucosa (human) PMID:19156145|REF_RGD_ID:151347861 11982177 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1312524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11982177 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:0080199 colorectal carcinoma exacerbates ISO RGD:1312524 D RGD:9068941 20220204 RGD protein:increased expression:colorectum (human) PMID:30144500|REF_RGD_ID:151347859 11982177 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:10908 hydrocephalus ISO RGD:1312524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 11982177 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:299 adenocarcinoma ISO RGD:1312524 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 11982177 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1312524 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11982177 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1312524 D RGD:9068941 20210625 RGD PMID:33532313|REF_RGD_ID:127285652 11982177 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:630 genetic disease ISO RGD:1312524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982177 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1312524 D RGD:9068941 20220204 RGD mRNA, protein:increased expression:liver (human) PMID:32514535|REF_RGD_ID:151347860 11982177 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312524 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11982177 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:9002758 Congenital Hydrocephalus 5 ISO RGD:1312524 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hydrocephalus, congenital, 5, susceptibility to PMID:29983323|PMID:33077954 11982177 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:9002758 Congenital Hydrocephalus 5 susceptibility ISO RGD:1312524 D RGD:7240710 20230505 OMIM 11982177 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1312524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11982177 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1312524 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 11982177 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:9006205 Animal Disease Models ISO RGD:1312524 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11982177 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:9008840 DNA Repair-Deficiency Disorders ISO RGD:1312524 D RGD:9068941 20220204 RGD associated with gastric carcinoma;protein:decreased expression:stomach (human) PMID:31922331|REF_RGD_ID:126848759 11982177 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:9256 colorectal cancer ISO RGD:1312524 D RGD:9068941 20220204 RGD RNA:increased expression:colorectum (human) PMID:32606978|REF_RGD_ID:151347862 11982209 PRMT6 protein arginine methyltransferase 6 gene DOID:12849 autistic disorder ISO RGD:1312299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11982209 PRMT6 protein arginine methyltransferase 6 gene DOID:630 genetic disease ISO RGD:1312299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982209 PRMT6 protein arginine methyltransferase 6 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1312299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27506785 11982214 LOC100988105 protocadherin beta-6 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1321102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11982214 LOC100988105 protocadherin beta-6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321102 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11982214 LOC100988105 protocadherin beta-6 gene DOID:630 genetic disease ISO RGD:1321102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982214 LOC100988105 protocadherin beta-6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11982214 LOC100988105 protocadherin beta-6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321102 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11982237 UTP23 UTP23 small subunit processome component gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1601941 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P215Q (rs16888728) (human) PMID:26553438|REF_RGD_ID:11041896 11982237 UTP23 UTP23 small subunit processome component gene DOID:0080508 Cornelia de Lange syndrome 4 ISO RGD:1601941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 4 PMID:28492532 11982237 UTP23 UTP23 small subunit processome component gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1601941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11982237 UTP23 UTP23 small subunit processome component gene DOID:206 hereditary multiple exostoses ISO RGD:1601941 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 11982237 UTP23 UTP23 small subunit processome component gene DOID:630 genetic disease ISO RGD:1601941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982244 ACTR5 actin related protein 5 gene DOID:2234 focal epilepsy ISO RGD:1317453 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11982244 ACTR5 actin related protein 5 gene DOID:630 genetic disease ISO RGD:1317453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982257 SDCBP syndecan binding protein gene DOID:630 genetic disease ISO RGD:1343667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982257 SDCBP syndecan binding protein gene DOID:8398 osteoarthritis ISO RGD:1343667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11982277 TRMT6 tRNA methyltransferase 6 non-catalytic subunit gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1604623 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11982277 TRMT6 tRNA methyltransferase 6 non-catalytic subunit gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1604623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11982277 TRMT6 tRNA methyltransferase 6 non-catalytic subunit gene DOID:630 genetic disease ISO RGD:1604623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982293 RGL1 ral guanine nucleotide dissociation stimulator like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1319015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11982293 RGL1 ral guanine nucleotide dissociation stimulator like 1 gene DOID:630 genetic disease ISO RGD:1319015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982293 RGL1 ral guanine nucleotide dissociation stimulator like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11982326 TNFSF11 TNF superfamily member 11 gene DOID:0080011 bone resorption disease ISO RGD:1347343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26319416 11982326 TNFSF11 TNF superfamily member 11 gene DOID:0110943 autosomal recessive osteopetrosis 2 ISO RGD:1347343 D RGD:7240710 20180130 OMIM 11982326 TNFSF11 TNF superfamily member 11 gene DOID:0110943 autosomal recessive osteopetrosis 2 ISO RGD:1347343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 2 | ClinVar Annotator: match by term: Osteopetrosis osteoclast-poor PMID:17632511|PMID:20499338|PMID:21541994|PMID:23762088|PMID:25741868|PMID:28492532 11982326 TNFSF11 TNF superfamily member 11 gene DOID:11476 osteoporosis ISO RGD:1347343 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17882678 11982326 TNFSF11 TNF superfamily member 11 gene DOID:11476 osteoporosis ISO RGD:1347343 D RGD:9068941 20200609 RGD PMID:17002564|REF_RGD_ID:1625350 11982326 TNFSF11 TNF superfamily member 11 gene DOID:11476 osteoporosis ISO RGD:1551655 D RGD:9068941 20220825 MouseDO OMIM:166710 11982326 TNFSF11 TNF superfamily member 11 gene DOID:12678 hypercalcemia ISO RGD:1347343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15845617 11982326 TNFSF11 TNF superfamily member 11 gene DOID:12800 mucopolysaccharidosis VI treatment ISO RGD:620784 D RGD:9068941 20210514 RGD PMID:21887218|REF_RGD_ID:39131283 11982326 TNFSF11 TNF superfamily member 11 gene DOID:13533 osteopetrosis ISO RGD:1347343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteopetrosis 11982326 TNFSF11 TNF superfamily member 11 gene DOID:4254 osteosclerosis ISO RGD:1347343 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:20499338|PMID:21541994|PMID:25741868|PMID:28492532 11982326 TNFSF11 TNF superfamily member 11 gene DOID:5844 myocardial infarction ISO RGD:1347343 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18298349|REF_RGD_ID:2302363 11982326 TNFSF11 TNF superfamily member 11 gene DOID:630 genetic disease ISO RGD:1347343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11982326 TNFSF11 TNF superfamily member 11 gene DOID:820 myocarditis ISO RGD:620784 D RGD:9068941 20200609 RGD associated with Autoimmune Diseases;mRNA:increased expression:heart myocardium PMID:18417124|REF_RGD_ID:2302361 11982326 TNFSF11 TNF superfamily member 11 gene DOID:9000927 Alveolar Bone Loss ISO RGD:1347343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19249596 11982326 TNFSF11 TNF superfamily member 11 gene DOID:9001004 Chronic Periodontitis ISO RGD:1347343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20731768 11982326 TNFSF11 TNF superfamily member 11 gene DOID:9001547 Tibial Fractures ISO RGD:620784 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18592139|REF_RGD_ID:2302324 11982326 TNFSF11 TNF superfamily member 11 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1347343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16270354 11982326 TNFSF11 TNF superfamily member 11 gene DOID:9006081 Osteolysis ISO RGD:1347343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18606716 11982327 ADAM28 ADAM metallopeptidase domain 28 gene DOID:0060075 estrogen-receptor positive breast cancer ISO RGD:1347348 D RGD:9068941 20220804 RGD DNA:hypermethylation: PMID:25620615|REF_RGD_ID:153298970 11982327 ADAM28 ADAM metallopeptidase domain 28 gene DOID:1612 breast cancer exacerbates ISO RGD:1347348 D RGD:9068941 20220728 RGD PMID:19549921|REF_RGD_ID:153298911 11982327 ADAM28 ADAM metallopeptidase domain 28 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11982327 ADAM28 ADAM metallopeptidase domain 28 gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1347348 D RGD:9068941 20220728 RGD DNA:hypermethylation:CpG island PMID:19549921|REF_RGD_ID:153298911 11982327 ADAM28 ADAM metallopeptidase domain 28 gene DOID:3459 breast carcinoma ISO RGD:1347348 D RGD:9068941 20220728 RGD protein:increased expression:breast PMID:29882245|REF_RGD_ID:153297792 11982327 ADAM28 ADAM metallopeptidase domain 28 gene DOID:3571 liver cancer ISO RGD:1347348 D RGD:9068941 20220728 RGD mRNA:increased expression:liver PMID:32782619|REF_RGD_ID:153297784 11982327 ADAM28 ADAM metallopeptidase domain 28 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1347348 D RGD:9068941 20220728 RGD DNA:hypermethylation:promoter PMID:21429053|REF_RGD_ID:153298914 11982327 ADAM28 ADAM metallopeptidase domain 28 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1347348 D RGD:9068941 20220728 RGD PMID:22354764|REF_RGD_ID:153297789 11982327 ADAM28 ADAM metallopeptidase domain 28 gene DOID:3910 lung adenocarcinoma ISO RGD:1347348 D RGD:9068941 20220728 RGD protein:increased expression:lung PMID:29882245|REF_RGD_ID:153297792 11982327 ADAM28 ADAM metallopeptidase domain 28 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1347348 D RGD:9068941 20220728 RGD PMID:30190423|REF_RGD_ID:153297795 11982327 ADAM28 ADAM metallopeptidase domain 28 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1347348 D RGD:9068941 20220728 RGD PMID:26800504|REF_RGD_ID:11531771 11982327 ADAM28 ADAM metallopeptidase domain 28 gene DOID:3910 lung adenocarcinoma treatment ISO RGD:1347348 D RGD:9068941 20220728 RGD PMID:20112342|REF_RGD_ID:153297794 11982327 ADAM28 ADAM metallopeptidase domain 28 gene DOID:630 genetic disease ISO RGD:1347348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982327 ADAM28 ADAM metallopeptidase domain 28 gene DOID:7596 asbestos-related lung carcinoma ISO RGD:1347348 D RGD:9068941 20220728 RGD associated with lung adenocarcinoma ;mRNA:increased expression:lung PMID:20544843|REF_RGD_ID:153298907 11982327 ADAM28 ADAM metallopeptidase domain 28 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1347348 D RGD:9068941 20220804 RGD associated with breast cancer;DNA:hypermethylation: PMID:25620615|REF_RGD_ID:153298970 11982327 ADAM28 ADAM metallopeptidase domain 28 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 11982327 ADAM28 ADAM metallopeptidase domain 28 gene DOID:9005172 Lung Neoplasms ISO RGD:1347348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20544843 11982327 ADAM28 ADAM metallopeptidase domain 28 gene DOID:9009121 lung metastasis ameliorates ISO RGD:1347348 D RGD:9068941 20220728 RGD associated with lung adenocarcinoma; PMID:26800504|REF_RGD_ID:11531771 11982327 ADAM28 ADAM metallopeptidase domain 28 gene DOID:9009121 lung metastasis ameliorates ISO RGD:1347348 D RGD:9068941 20220728 RGD associated with lung carcinoma, breast carcinoma PMID:22636800|REF_RGD_ID:153297785 11982327 ADAM28 ADAM metallopeptidase domain 28 gene DOID:9256 colorectal cancer ISO RGD:1347348 D RGD:9068941 20220728 RGD mRNA,protein:decreased expression:colorectum PMID:27661126|REF_RGD_ID:153298906 11982327 ADAM28 ADAM metallopeptidase domain 28 gene DOID:9256 colorectal cancer severity ISO RGD:1347348 D RGD:9068941 20220728 RGD PMID:31565100|REF_RGD_ID:153298908 11982355 TPST1 tyrosylprotein sulfotransferase 1 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1318261 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs3757417) G>T (human) PMID:27354594|REF_RGD_ID:152177496 11982355 TPST1 tyrosylprotein sulfotransferase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1318261 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11982355 TPST1 tyrosylprotein sulfotransferase 1 gene DOID:0080600 COVID-19 ISO RGD:1318261 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11982355 TPST1 tyrosylprotein sulfotransferase 1 gene DOID:14755 argininosuccinic aciduria ISO RGD:1318261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency PMID:28492532 11982355 TPST1 tyrosylprotein sulfotransferase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11982355 TPST1 tyrosylprotein sulfotransferase 1 gene DOID:630 genetic disease ISO RGD:1318261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982385 GRXCR2 glutaredoxin and cysteine rich domain containing 2 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:2301277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 11982385 GRXCR2 glutaredoxin and cysteine rich domain containing 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:2301277 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11982385 GRXCR2 glutaredoxin and cysteine rich domain containing 2 gene DOID:0110462 autosomal recessive nonsyndromic deafness 101 ISO RGD:2301277 D RGD:7240710 20180130 OMIM 11982385 GRXCR2 glutaredoxin and cysteine rich domain containing 2 gene DOID:0110462 autosomal recessive nonsyndromic deafness 101 ISO RGD:2301277 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 101 PMID:24619944|PMID:25741868|PMID:28492532 11982385 GRXCR2 glutaredoxin and cysteine rich domain containing 2 gene DOID:630 genetic disease ISO RGD:2301277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11982385 GRXCR2 glutaredoxin and cysteine rich domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2301277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11982385 GRXCR2 glutaredoxin and cysteine rich domain containing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:2301277 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11982469 NSUN3 NOP2/Sun RNA methyltransferase 3 gene DOID:0111003 Joubert syndrome 8 ISO RGD:1351028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 8 PMID:28492532 11982469 NSUN3 NOP2/Sun RNA methyltransferase 3 gene DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency ISO RGD:1351028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive PMID:16363235|PMID:22627709|PMID:28492532|PMID:9241758 11982469 NSUN3 NOP2/Sun RNA methyltransferase 3 gene DOID:0112112 combined oxidative phosphorylation deficiency 48 ISO RGD:1351028 D RGD:7240710 20200930 OMIM 11982469 NSUN3 NOP2/Sun RNA methyltransferase 3 gene DOID:0112112 combined oxidative phosphorylation deficiency 48 ISO RGD:1351028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 48 PMID:27356879|PMID:28492532|PMID:32671698 11982469 NSUN3 NOP2/Sun RNA methyltransferase 3 gene DOID:2451 protein S deficiency ISO RGD:1351028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Protein S deficiency disease PMID:32581362 11982469 NSUN3 NOP2/Sun RNA methyltransferase 3 gene DOID:630 genetic disease ISO RGD:1351028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11982479 SLC41A1 solute carrier family 41 member 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1322838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11982479 SLC41A1 solute carrier family 41 member 1 gene DOID:12849 autistic disorder ISO RGD:1322838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11982479 SLC41A1 solute carrier family 41 member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1322838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11982479 SLC41A1 solute carrier family 41 member 1 gene DOID:630 genetic disease ISO RGD:1322838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11982479 SLC41A1 solute carrier family 41 member 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1322838 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11982479 SLC41A1 solute carrier family 41 member 1 gene DOID:9006423 Nephronophthisis-like Nephropathy 2 ISO RGD:1322838 D RGD:7240710 20210818 OMIM 11982479 SLC41A1 solute carrier family 41 member 1 gene DOID:9006423 Nephronophthisis-like Nephropathy 2 ISO RGD:1322838 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 2 PMID:23661805|PMID:25741868|PMID:28492532 11982479 SLC41A1 solute carrier family 41 member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11982504 LOC100969907 PI-PLC X domain-containing protein 1 gene DOID:12849 autistic disorder ISO RGD:1349595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11982505 CNTN5 contactin 5 gene DOID:10487 Hirschsprung's disease ISO RGD:734326 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 11982505 CNTN5 contactin 5 gene DOID:1059 intellectual disability ISO RGD:734326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11982505 CNTN5 contactin 5 gene DOID:12704 ataxia telangiectasia ISO RGD:734326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11982505 CNTN5 contactin 5 gene DOID:12849 autistic disorder ISO RGD:734326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11982505 CNTN5 contactin 5 gene DOID:630 genetic disease ISO RGD:734326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21325069 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:0050908 myelodysplastic syndrome severity ISO RGD:737039 D RGD:9068941 20200609 RGD DNA:hypermethylation: : PMID:20658957|REF_RGD_ID:11251750 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:0060058 lymphoma ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9488045 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma disease_progression ISO RGD:737039 D RGD:9068941 20200609 RGD DNA:deletion (human) PMID:20118908|REF_RGD_ID:8552306 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:0060071 pre-malignant neoplasm ISO RGD:2323 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:12547284|REF_RGD_ID:1600820 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:0060071 pre-malignant neoplasm ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24991542 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:0060221 Maffucci syndrome ISO RGD:737039 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maffucci syndrome PMID:11687599|PMID:12532425|PMID:12538475|PMID:16234564|PMID:16818274|PMID:16896043|PMID:17218939|PMID:17255954|PMID:18519632|PMID:19690981|PMID:21150883|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25980754|PMID:26104880|PMID:26225579|PMID:26467025|PMID:26681309|PMID:27621404|PMID:27756164|PMID:27960642|PMID:28492532|PMID:28726808|PMID:28765326|PMID:7718873|PMID:8710906|PMID:9166859|PMID:9416844 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:0060282 persistent hyperplastic primary vitreous ISO RGD:10322 D RGD:9068941 20200609 RGD PMID:16620915|REF_RGD_ID:8552304 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:0080001 bone disease ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30259626 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:10322 D RGD:9068941 20200609 RGD PMID:21622646|REF_RGD_ID:11251772 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:0080630 B-lymphoblastic leukemia/lymphoma susceptibility ISO RGD:737039 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.442C>T,p.A148T,rs3731249 (human) PMID:26104880|REF_RGD_ID:11057958 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:0080630 B-lymphoblastic leukemia/lymphoma treatment ISO RGD:10322 D RGD:9068941 20200609 RGD PMID:16618932|REF_RGD_ID:11251751 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:0111511 melanoma and neural system tumor syndrome ISO RGD:737039 D RGD:7240710 20180130 OMIM 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:0111511 melanoma and neural system tumor syndrome ISO RGD:737039 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Melanoma and neural system tumor syndrome PMID:10389768|PMID:10667595|PMID:10719365|PMID:10738302|PMID:11136714|PMID:11687599|PMID:15075790|PMID:16234564|PMID:16397522|PMID:16818274|PMID:16896043|PMID:17218939|PMID:17713569|PMID:18025365|PMID:18335566|PMID:18337833|PMID:18519632|PMID:19523171|PMID:20093296|PMID:21085193|PMID:21462282|PMID:22440936|PMID:24733792|PMID:25078331|PMID:25741868|PMID:25780468|PMID:25980754|PMID:26467025|PMID:26670561|PMID:26681309|PMID:26775776|PMID:27756164|PMID:27960642|PMID:28454591|PMID:28492532|PMID:28640387|PMID:28765326|PMID:28830827|PMID:30207590|PMID:30339520|PMID:31567591|PMID:31921681|PMID:32191290|PMID:33823155|PMID:35001868|PMID:7566978|PMID:7647780|PMID:7718873|PMID:7881419|PMID:7987387|PMID:8570179|PMID:8573142|PMID:8653684|PMID:8727306|PMID:9166859|PMID:9389568|PMID:9916806 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:10041 dysplastic nevus syndrome ISO RGD:737039 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.P48L (human) PMID:10338331|REF_RGD_ID:8552302 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:10283 prostate cancer ISO RGD:737039 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:16483154|REF_RGD_ID:2289685 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:10283 prostate cancer disease_progression ISO RGD:737039 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:16799475|REF_RGD_ID:2289684 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:10534 stomach cancer ISO RGD:737039 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:22804906|PMID:25741868|PMID:28492532|PMID:36988593 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:10763 hypertension ISO RGD:2323 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:18504326|REF_RGD_ID:2316082 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:10763 hypertension ISO RGD:737039 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:18504326|REF_RGD_ID:2316082 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:11054 urinary bladder cancer ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12973940|PMID:15987713 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:11054 urinary bladder cancer ISO RGD:737039 D RGD:9068941 20200609 RGD DNA:deletion PMID:15897688|REF_RGD_ID:2289687 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:11054 urinary bladder cancer ISO RGD:737039 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:17119258|REF_RGD_ID:2296052 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:11054 urinary bladder cancer ISO RGD:737039 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:18234280|REF_RGD_ID:2296048 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:1107 esophageal carcinoma ISO RGD:737039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:25741868|PMID:26619011|PMID:28492532 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:11166 papillomavirus infectious disease ISO RGD:737039 D RGD:9068941 20200609 RGD associated with Cervical Intraepithelial Neoplasms;protein:increased expression:uterine cervix PMID:16415792|REF_RGD_ID:2296057 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:11166 papillomavirus infectious disease ISO RGD:737039 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms;protein:increased expression:uterine cervix PMID:16406113|REF_RGD_ID:2296058 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:1240 leukemia ISO RGD:737039 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:8631003|REF_RGD_ID:8548743 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:1324 lung cancer ISO RGD:737039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:10498896|PMID:10892805|PMID:18803811|PMID:21462282|PMID:22841127|PMID:25741868|PMID:28492532|PMID:7777061|PMID:9751050 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:1380 endometrial cancer ISO RGD:2323 D RGD:9068941 20200609 RGD DNA:deletions:exon (rat) PMID:18558284|REF_RGD_ID:2316081 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:14566 disease of cellular proliferation ISO RGD:737039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:10360174|PMID:10491434|PMID:10498896|PMID:10874641|PMID:12606942|PMID:15146471|PMID:16234564|PMID:16374456|PMID:16896043|PMID:16905682|PMID:17255954|PMID:18573309|PMID:18983535|PMID:19523171|PMID:21085193|PMID:21462282|PMID:21801156|PMID:22841127|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26650189|PMID:26681309|PMID:28492532|PMID:31775759|PMID:7780957|PMID:7987387|PMID:8521414|PMID:8668202|PMID:9132280|PMID:9324288 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:1612 breast cancer susceptibility ISO RGD:737039 D RGD:9068941 20200609 RGD DNA:insertion:cds:p.R112_L113insR (human) PMID:10922411|REF_RGD_ID:8552383 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:1686 glaucoma ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21532571 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:1749 squamous cell carcinoma ISO RGD:10322 D RGD:9068941 20200609 RGD DNA:transitions: :multiple PMID:15057871|REF_RGD_ID:8552295 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:1749 squamous cell carcinoma ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25125259 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:1790 malignant mesothelioma ISO RGD:737039 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:19223589|PMID:21526190|PMID:29112861 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:1793 pancreatic cancer ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10627132|PMID:26098869 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:1793 pancreatic cancer ISO RGD:737039 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:18772397|REF_RGD_ID:5490966 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:1909 melanoma ISO RGD:737039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10389768|PMID:10491434|PMID:10508477|PMID:10738302|PMID:10869234|PMID:11078762|PMID:11358797|PMID:11477665|PMID:11500805|PMID:11579459|PMID:11687599|PMID:11807902|PMID:12001124|PMID:12072543|PMID:12606942|PMID:14679123|PMID:15140233|PMID:15146471|PMID:16234564|PMID:16397522|PMID:16818274|PMID:16896043|PMID:16905682|PMID:17397031|PMID:17576681|PMID:17713569|PMID:17992122|PMID:18025365|PMID:18205010|PMID:18337833|PMID:18519632|PMID:18573309|PMID:19260062|PMID:19360740|PMID:19523171|PMID:20093296|PMID:20340136|PMID:20505745|PMID:21462282|PMID:21507037|PMID:21609436|PMID:21801156|PMID:24336570|PMID:24659262|PMID:25157968|PMID:25356972|PMID:25741868|PMID:25780468|PMID:26381259|PMID:26467025|PMID:26619011|PMID:26658419|PMID:26681309|PMID:26775776|PMID:27181379|PMID:27756164|PMID:27960642|PMID:28146043|PMID:28492532|PMID:28592523|PMID:28765326|PMID:28830827|PMID:29915805|PMID:29983899|PMID:30291219|PMID:30306255|PMID:30742731|PMID:31382929|PMID:31567591|PMID:31775759|PMID:7566978|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7881419|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8153634|PMID:8521414|PMID:8552158|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8653684|PMID:8668202|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:9053859|PMID:9166859|PMID:9324288|PMID:9328469|PMID:9425228|PMID:9536098|PMID:9660926|PMID:9710613|PMID:9751050|PMID:9823374|PMID:9856841|PMID:9916806 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:1909 melanoma susceptibility ISO RGD:737039 D RGD:9068941 20200609 RGD DNA:point mutation, insertion:exon PMID:9168184|REF_RGD_ID:1600812 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:1967 leiomyosarcoma ISO RGD:737039 D RGD:9068941 20200609 RGD associated with Myometrial Neoplasms;protein:increased expression:myometrium PMID:18156978|REF_RGD_ID:2296049 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:2154 nephroblastoma ISO RGD:737039 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17369505|REF_RGD_ID:2289679 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:224 transient cerebral ischemia ISO RGD:10322 D RGD:9068941 20200609 RGD protein:decreased expression:striatum, neuron PMID:11438580|REF_RGD_ID:8552691 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:2394 ovarian cancer ISO RGD:737039 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:17047042|PMID:19260062|PMID:20340316|PMID:21462282|PMID:22841127|PMID:24660985|PMID:25741868|PMID:26104880|PMID:28492532|PMID:30548481|PMID:35001868|PMID:9425228 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:2526 prostate adenocarcinoma ISO RGD:737039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:25741868|PMID:26619011|PMID:28492532 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:2671 transitional cell carcinoma ISO RGD:737039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:10491434|PMID:16234564|PMID:16896043|PMID:21462282|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7780957|PMID:8521414|PMID:9324288 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:737039 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:16316628|REF_RGD_ID:2289686 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:299 adenocarcinoma ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20135361 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:2999 granulosa cell tumor ISO RGD:737039 D RGD:9068941 20200609 RGD PMID:12203782|REF_RGD_ID:2296066 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3008 invasive ductal carcinoma ISO RGD:737039 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter:breast, serum PMID:17383681|REF_RGD_ID:2289677 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3068 glioblastoma treatment ISO RGD:737039 D RGD:9068941 20200609 RGD PMID:10720483|REF_RGD_ID:8552659 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3070 high grade glioma ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814359|PMID:19578367 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3070 high grade glioma disease_progression ISO RGD:737039 D RGD:9068941 20200609 RGD DNA:deletions PMID:11314047|REF_RGD_ID:8552305 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737039 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35303175 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3192 neurilemmoma ISO RGD:737039 D RGD:9068941 20200609 RGD DNA,protein:deletion,decreased expression: : PMID:10595918|REF_RGD_ID:1358481 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3247 rhabdomyosarcoma ISO RGD:2323 D RGD:9068941 20200609 RGD DNA, mRNA:hypermethylation, decreased expression:promoter, skeletal muscle PMID:21565688|REF_RGD_ID:8552662 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3275 thymoma ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24974848 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3304 germinoma ISO RGD:737039 D RGD:9068941 20200609 RGD DNA:transition:exon:142G>A PMID:9554401|REF_RGD_ID:2289698 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3347 osteosarcoma ISO RGD:737039 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Osteoblastic osteosarcoma PMID:10389768|PMID:10667595|PMID:10719365|PMID:11687599|PMID:15075790|PMID:16234564|PMID:16818274|PMID:16896043|PMID:17218939|PMID:18335566|PMID:18519632|PMID:21085193|PMID:21462282|PMID:22440936|PMID:24733792|PMID:25078331|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26670561|PMID:26681309|PMID:27756164|PMID:27960642|PMID:28454591|PMID:28492532|PMID:28640387|PMID:28765326|PMID:28830827|PMID:30207590|PMID:30339520|PMID:31921681|PMID:32191290|PMID:33823155|PMID:35001868|PMID:7566978|PMID:7647780|PMID:7718873|PMID:7987387|PMID:8573142|PMID:9166859|PMID:9389568 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3587 pancreatic ductal carcinoma ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24986516 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3717 gastric adenocarcinoma ISO RGD:737039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:10491434|PMID:11477665|PMID:11500805|PMID:11687599|PMID:12072543|PMID:16234564|PMID:16896043|PMID:16905682|PMID:17576681|PMID:18573309|PMID:21462282|PMID:25157968|PMID:25356972|PMID:25741868|PMID:26619011|PMID:26681309|PMID:26775776|PMID:28492532|PMID:28830827|PMID:29983899|PMID:7780957|PMID:8521414|PMID:8595405|PMID:8723678|PMID:9324288|PMID:9536098|PMID:9751050|PMID:9823374 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3717 gastric adenocarcinoma ISO RGD:737039 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:10491434|PMID:11477665|PMID:11500805|PMID:11687599|PMID:12072543|PMID:16234564|PMID:16896043|PMID:16905682|PMID:17576681|PMID:18573309|PMID:21462282|PMID:25157968|PMID:25356972|PMID:25741868|PMID:26619011|PMID:26681309|PMID:26775776|PMID:28492532|PMID:28830827|PMID:29983899|PMID:7780957|PMID:8521414|PMID:8573142|PMID:8595405|PMID:8723678|PMID:9324288|PMID:9536098|PMID:9751050|PMID:9823374 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3721 plasmacytoma ISO RGD:10322 D RGD:9068941 20200609 RGD PMID:11113205|REF_RGD_ID:11251742 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3907 lung squamous cell carcinoma ISO RGD:737039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:10498896|PMID:11078762|PMID:11358797|PMID:11477665|PMID:11500805|PMID:11687599|PMID:12072543|PMID:12606942|PMID:15140233|PMID:15146471|PMID:15235029|PMID:15860862|PMID:16354195|PMID:16905682|PMID:17576681|PMID:17992122|PMID:18024887|PMID:18573309|PMID:20505745|PMID:21325014|PMID:21462282|PMID:21507037|PMID:22841127|PMID:24336570|PMID:25157968|PMID:25356972|PMID:25741868|PMID:25780468|PMID:26619011|PMID:26681309|PMID:26775776|PMID:28146043|PMID:28492532|PMID:28592523|PMID:28830827|PMID:29983899|PMID:30291219|PMID:30742731|PMID:7777060|PMID:7777061|PMID:8552400|PMID:8573142|PMID:8595405|PMID:8668202|PMID:8723678|PMID:8755727|PMID:8834170|PMID:9053859|PMID:9328469|PMID:9536098|PMID:9660926|PMID:9710613|PMID:9751050|PMID:9823374|PMID:9856841 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3908 lung non-small cell carcinoma ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18337602|PMID:19375815 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3910 lung adenocarcinoma ISO RGD:737039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:10491434|PMID:16234564|PMID:16896043|PMID:21462282|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7780957|PMID:8521414|PMID:9324288 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3948 adrenocortical carcinoma ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747642 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:4074 pancreatic adenocarcinoma ISO RGD:737039 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:10491434|PMID:11477665|PMID:11500805|PMID:11687599|PMID:12072543|PMID:16234564|PMID:16896043|PMID:16905682|PMID:17576681|PMID:18573309|PMID:21462282|PMID:25157968|PMID:25356972|PMID:25741868|PMID:26619011|PMID:26681309|PMID:26775776|PMID:28492532|PMID:28830827|PMID:29983899|PMID:7780957|PMID:8521414|PMID:8573142|PMID:8595405|PMID:8723678|PMID:9324288|PMID:9536098|PMID:9751050|PMID:9823374 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:4450 renal cell carcinoma ISO RGD:2323 D RGD:9068941 20200609 RGD DNA:gene instability PMID:11839561|REF_RGD_ID:1298747 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:4450 renal cell carcinoma ISO RGD:737039 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, increased expression:promoter, kidney PMID:15232742|REF_RGD_ID:2289699 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:4450 renal cell carcinoma ISO RGD:737039 D RGD:9068941 20200609 RGD DNA:deletion PMID:17201148|REF_RGD_ID:2289680 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:4465 papillary renal cell carcinoma ISO RGD:737039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:25741868|PMID:26619011|PMID:28492532 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:4488 sarcomatoid mesothelioma ISO RGD:2323 D RGD:9068941 20200609 RGD DNA:deletion PMID:20065947|REF_RGD_ID:7248760 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:4905 pancreatic carcinoma susceptibility ISO RGD:737039 D RGD:9068941 20200609 RGD DNA:insertion:cds:p.R112_L113insR (human) PMID:10922411|REF_RGD_ID:8552383 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:4914 esophagus adenocarcinoma ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23525077 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:4947 cholangiocarcinoma onset ISO RGD:737039 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:15619210|REF_RGD_ID:2317417 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:5419 schizophrenia ISO RGD:737039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:737039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:10491434|PMID:11078762|PMID:11358797|PMID:11477665|PMID:11500805|PMID:11687599|PMID:12072543|PMID:12606942|PMID:15140233|PMID:15146471|PMID:16234564|PMID:16374456|PMID:16818274|PMID:16896043|PMID:16905682|PMID:17576681|PMID:17992122|PMID:18205010|PMID:18519632|PMID:18573309|PMID:20505745|PMID:21462282|PMID:21507037|PMID:21609436|PMID:21801156|PMID:24336570|PMID:25157968|PMID:25356972|PMID:25741868|PMID:26619011|PMID:26681309|PMID:26775776|PMID:27756164|PMID:27960642|PMID:28146043|PMID:28492532|PMID:28765326|PMID:28830827|PMID:29915805|PMID:29983899|PMID:30291219|PMID:30742731|PMID:31382929|PMID:31775759|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:8153634|PMID:8521414|PMID:8573142|PMID:8595405|PMID:8668202|PMID:8723678|PMID:8755727|PMID:8834170|PMID:9053859|PMID:9166859|PMID:9324288|PMID:9328469|PMID:9536098|PMID:9660926|PMID:9710613|PMID:9751050|PMID:9823374|PMID:9856841 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:5520 head and neck squamous cell carcinoma disease_progression ISO RGD:737039 D RGD:9068941 20200609 RGD DNA:SNPs: :rs3731217, rs3088440 (human) PMID:21381012|REF_RGD_ID:8552291 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:10322 D RGD:9068941 20200609 RGD PMID:19759355|PMID:23178376|REF_RGD_ID:11251744|REF_RGD_ID:11251774 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:737039 D RGD:9068941 20200609 RGD PMID:17507663|REF_RGD_ID:11251765 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:737039 D RGD:9068941 20200609 RGD DNA:deletion, missense, nonsense mutations:cds: PMID:8637233|REF_RGD_ID:11251776 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:5603 T-cell acute lymphoblastic leukemia disease_progression ISO RGD:10322 D RGD:9068941 20200609 RGD PMID:16407836|REF_RGD_ID:11251741 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:574 peripheral nervous system disease ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23872714 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6171 uterine carcinosarcoma disease_progression ISO RGD:737039 D RGD:9068941 20200609 RGD PMID:16803529|REF_RGD_ID:2296053 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:630 genetic disease ISO RGD:737039 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10389768|PMID:10508477|PMID:10869234|PMID:11579459|PMID:11807902|PMID:12001124|PMID:14679123|PMID:15146471|PMID:16818274|PMID:17397031|PMID:18519632|PMID:19260062|PMID:19360740|PMID:20340136|PMID:21462282|PMID:21801156|PMID:24659262|PMID:25741868|PMID:26381259|PMID:26467025|PMID:26658419|PMID:26681309|PMID:26775776|PMID:27181379|PMID:27756164|PMID:27960642|PMID:28146043|PMID:28492532|PMID:28592523|PMID:28765326|PMID:7566978|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8552158|PMID:8668202|PMID:8755727|PMID:9166859|PMID:9324288|PMID:9425228 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:684 hepatocellular carcinoma ISO RGD:737039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA PMID:10491434|PMID:14508519|PMID:16234564|PMID:16896043|PMID:21462282|PMID:25157968|PMID:25741868|PMID:25780468|PMID:26225579|PMID:26467025|PMID:26619011|PMID:28492532|PMID:7780957|PMID:8521414|PMID:9185756|PMID:9324288 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:684 hepatocellular carcinoma severity ISO RGD:737039 D RGD:9068941 20200609 RGD Protein:decreased expression:liver PMID:16317707|REF_RGD_ID:1600816 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:7240710 20190410 OMIM 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12175554|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12673200|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14584079|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18025365|PMID:18178632|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18519632|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21614589|PMID:21619050|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23757202|PMID:23897584|PMID:24033266|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26104880|PMID:26206375|PMID:26225579|PMID:26295973|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28592523|PMID:28599463|PMID:28640387 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29263814|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29758216|PMID:29774366|PMID:29922827|PMID:29983899|PMID:30038052|PMID:30086788|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31382929|PMID:31775759|PMID:31921681|PMID:32113160|PMID:32191290|PMID:33322357|PMID:33823155|PMID:7566978|PMID:7569991|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9366518|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10070944|PMID:10229204|PMID:10338331|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12118338|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12673200|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14508519|PMID:14584079|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18025365|PMID:18178632|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18519632|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21614589|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23757202|PMID:23897584|PMID:24033266|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26104880|PMID:26206375|PMID:26225579|PMID:26295973|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:26775776|PMID:26800492|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28830827|PMID:28830923 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29263814|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29758216|PMID:29774366|PMID:29922827|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31382929|PMID:31775759|PMID:31921681|PMID:32113160|PMID:32191290|PMID:33322357|PMID:33823155|PMID:7566978|PMID:7569991|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10070944|PMID:10229204|PMID:10338331|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12118338|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12673200|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14508519|PMID:14584079|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18025365|PMID:18178632|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18519632|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21614589|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23757202|PMID:23897584|PMID:24033266|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26104880|PMID:26206375|PMID:26225579|PMID:26295973|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:26775776|PMID:26800492|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:28767289|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29263814|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29758216|PMID:29774366|PMID:29922827|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31382929|PMID:31775759|PMID:31921681|PMID:32113160|PMID:32191290|PMID:33322357|PMID:33823155|PMID:33945383|PMID:35001868|PMID:7566978|PMID:7569991|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10070944|PMID:10229204|PMID:10338331|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12118338|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12673200|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14508519|PMID:14584079|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18025365|PMID:18178632|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18519632|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21614589|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23757202|PMID:23897584|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26104880|PMID:26206375|PMID:26225579|PMID:26295973|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28592523|PMID:28599463|PMID:28640387 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29263814|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29758216|PMID:29774366|PMID:29922827|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31382929|PMID:31775759|PMID:31921681|PMID:32113160|PMID:32191290|PMID:33309985|PMID:33322357|PMID:33823155|PMID:33945383|PMID:35001868|PMID:7566978|PMID:7569991|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10070944|PMID:10229204|PMID:10338331|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12118338|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12673200|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14584079|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069952|PMID:35001868|PMID:5001868|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34426522|PMID:35001868|PMID:5001868|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26557774|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34426522|PMID:35001868|PMID:5001868|PMID:539244|PMID:6307646|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18612309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26557774|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34369425|PMID:34426522|PMID:35001868|PMID:5001868|PMID:539244|PMID:6307646|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34369425|PMID:34426522|PMID:35001868|PMID:5001868|PMID:539244|PMID:6307646|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18612309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26557774|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18612309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30548481|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31159747|PMID:31382929|PMID:31432501|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34369425|PMID:34426522|PMID:35001868|PMID:36988593|PMID:5001868|PMID:539244|PMID:6307646|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:768 retinoblastoma ISO RGD:737039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:25741868|PMID:28492532 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:769 neuroblastoma ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814359 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:769 neuroblastoma treatment ISO RGD:737039 D RGD:9068941 20200609 RGD PMID:24714808|REF_RGD_ID:10043806 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:8398 osteoarthritis treatment ISO RGD:2323 D RGD:9068941 20200609 RGD PMID:24009074|REF_RGD_ID:10043190 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:8541 Sezary's disease ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551670 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:737039 D RGD:9068941 20200609 RGD PMID:16533530|REF_RGD_ID:11251777 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:8719 in situ carcinoma ISO RGD:737039 D RGD:9068941 20200609 RGD associated with Bladder Neoplasms;protein:increased expression:urinary bladder PMID:18234280|REF_RGD_ID:2296048 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:8923 skin melanoma ISO RGD:737039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:10491434|PMID:11078762|PMID:11358797|PMID:11477665|PMID:11500805|PMID:11687599|PMID:12072543|PMID:12606942|PMID:15140233|PMID:15146471|PMID:16234564|PMID:16896043|PMID:16905682|PMID:17576681|PMID:17992122|PMID:18573309|PMID:20505745|PMID:21462282|PMID:21507037|PMID:24336570|PMID:25157968|PMID:25356972|PMID:25741868|PMID:26619011|PMID:26681309|PMID:26775776|PMID:28146043|PMID:28492532|PMID:28830827|PMID:29983899|PMID:30291219|PMID:30742731|PMID:7777060|PMID:7777061|PMID:7780957|PMID:8521414|PMID:8573142|PMID:8595405|PMID:8668202|PMID:8723678|PMID:8755727|PMID:8834170|PMID:9053859|PMID:9324288|PMID:9328469|PMID:9536098|PMID:9660926|PMID:9710613|PMID:9751050|PMID:9823374|PMID:9856841 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:737039 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:16778587|REF_RGD_ID:2296054 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:737039 D RGD:9068941 20200609 RGD protein:increased expression PMID:17910346|REF_RGD_ID:2289675 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:737039 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17415114|REF_RGD_ID:2289676 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:737039 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:16406113|REF_RGD_ID:2296058 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9000046 Poisoning ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20044985 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9000081 Lymphatic Metastasis ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29426936 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9000117 Esophageal Neoplasms ISO RGD:2323 D RGD:9068941 20200609 RGD Protein:decreased expression:esophagus PMID:10969811|REF_RGD_ID:1600828 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9000117 Esophageal Neoplasms ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18410530 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9000217 Stomach Neoplasms ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747643 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9000392 Fluoride Poisoning ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30259626 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:737039 D RGD:9068941 20200609 RGD associated with Testicular Neoplasms;DNA:missense mutation, deletion, polymorphism:cds, intron:p.A140T PMID:9554401|REF_RGD_ID:2289698 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9000555 Vulvar Lichen Sclerosus ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17300232 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9000965 Neoplasm Metastasis ISO RGD:737039 D RGD:9068941 20200609 RGD associated with Paraganglioma, Extra-Adrenal;DNA:hypermethylation PMID:18509008|REF_RGD_ID:8552280 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9002221 Hyperplasia treatment ISO RGD:2323 D RGD:9068941 20200609 RGD PMID:23427405|REF_RGD_ID:8552677 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9002265 Kidney Neoplasms ISO RGD:737039 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity PMID:11037653|REF_RGD_ID:2289689 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9002265 Kidney Neoplasms ISO RGD:737039 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17369505|REF_RGD_ID:2289679 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9002304 Prostatic Neoplasms ISO RGD:10322 D RGD:9068941 20200609 RGD DNA, mRNA, protein:hypermethylation, increased expression:exon, prostate PMID:17178860|REF_RGD_ID:2289681 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9002457 Experimental Arthritis treatment ISO RGD:737039 D RGD:9068941 20200609 RGD PMID:10395320|REF_RGD_ID:8552686 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9002644 Premature Aging ISO RGD:10322 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:21108731|REF_RGD_ID:10043189 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9002644 Premature Aging treatment ISO RGD:10322 D RGD:9068941 20200609 RGD PMID:23207764|REF_RGD_ID:10043192 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9002762 Ovarian Neoplasms ISO RGD:737039 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:10738302|PMID:16397522|PMID:16896043|PMID:17713569|PMID:18025365|PMID:18337833|PMID:19523171|PMID:20093296|PMID:25741868|PMID:25780468|PMID:26467025|PMID:26681309|PMID:26775776|PMID:28492532|PMID:31567591|PMID:7881419|PMID:8570179|PMID:8653684|PMID:8727306|PMID:9916806 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:737039 D RGD:9068941 20200609 RGD PMID:17242700|REF_RGD_ID:2296051 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9002762 Ovarian Neoplasms severity ISO RGD:737039 D RGD:9068941 20200609 RGD PMID:17493241|REF_RGD_ID:2296050 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9002777 Brain Stem Neoplasms ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24098593 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9002928 Colonic Neoplasms ISO RGD:2323 D RGD:9068941 20200609 RGD mRNA, Protein:decreased expression:colon PMID:12189186|REF_RGD_ID:1600823 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737039 D RGD:9068941 20200609 RGD PMID:17369842|REF_RGD_ID:2289678 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737039 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17415114|REF_RGD_ID:2289676 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:737039 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:16415792|REF_RGD_ID:2296057 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9003566 Mesothelioma ISO RGD:2323 D RGD:9068941 20200609 RGD DNA:deletion PMID:20065947|REF_RGD_ID:7248760 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9003566 Mesothelioma ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18379362 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9003960 Trisomy ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21526190 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9004217 Nerve Sheath Neoplasms ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25240281 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9004441 Experimental Leukemia ISO RGD:10322 D RGD:9068941 20200609 RGD PMID:10090949|REF_RGD_ID:11251764 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24495407 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9005006 Melanoma-Pancreatic Cancer Syndrome ISO RGD:737039 D RGD:7240710 20180130 OMIM 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9005006 Melanoma-Pancreatic Cancer Syndrome ISO RGD:737039 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Melanoma-pancreatic cancer syndrome PMID:10229204|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10498896|PMID:10508477|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10869234|PMID:10874641|PMID:10892805|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11156381|PMID:11360201|PMID:11433531|PMID:11506491|PMID:11556834|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12606942|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:14508519|PMID:14679123|PMID:14735200|PMID:15075790|PMID:15122588|PMID:15146471|PMID:15173226|PMID:15235029|PMID:15705881|PMID:15761864|PMID:15860862|PMID:15945100|PMID:16169933|PMID:16234564|PMID:16354195|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17218939|PMID:17255954|PMID:17370310|PMID:17397031|PMID:17713569|PMID:18023021|PMID:18025365|PMID:18178632|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18981015|PMID:18983535|PMID:19141585|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19799798|PMID:20093296|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21614589|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22368299|PMID:22440936|PMID:22636603|PMID:22703879|PMID:22841127|PMID:22995991|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23897584|PMID:24033266|PMID:24185512|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:25064638|PMID:25078331|PMID:25186627|PMID:25227142|PMID:25318351|PMID:25356972|PMID:25372287|PMID:25479140|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25846456|PMID:25980754|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26225579|PMID:26295973|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26498684|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:26775776|PMID:26845104|PMID:26876133|PMID:26976419|PMID:27181379|PMID:27473757|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27960642|PMID:27978560|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28410231|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28830827|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29360161|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29684080|PMID:29758216|PMID:29774366|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30291219|PMID:30339520|PMID:30548481|PMID:30967399|PMID:31567591|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33322357|PMID:33823155|PMID:34069252|PMID:34069952|PMID:34426522|PMID:35001868|PMID:5001868|PMID:7566978|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595411|PMID:8603820|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8727306|PMID:8755727|PMID:8841025|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9133447|PMID:9166859|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9473234|PMID:9516223|PMID:9660926|PMID:9699728|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9005172 Lung Neoplasms ISO RGD:2323 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:11872642|PMID:19409458|REF_RGD_ID:1298567|REF_RGD_ID:7248761 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9005172 Lung Neoplasms ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11872642|PMID:12115568|PMID:18337602|PMID:20135361 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2323 D RGD:9068941 20200609 RGD PMID:20681787|REF_RGD_ID:8552689 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:10322 D RGD:9068941 20200609 RGD PMID:18060046|REF_RGD_ID:2289674 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9005804 Vulvar Neoplasms ISO RGD:737039 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections;protein:increased expression:vulva PMID:18192968|REF_RGD_ID:2289673 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9005804 Vulvar Neoplasms ISO RGD:737039 D RGD:9068941 20200609 RGD protein:increased expression:vulva PMID:16998595|REF_RGD_ID:2289682 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9005873 Tongue Neoplasms ISO RGD:2323 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity PMID:16527513|REF_RGD_ID:1578522 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9005873 Tongue Neoplasms ISO RGD:2323 D RGD:9068941 20200609 RGD DNA:point mutations, missense mutation:exon PMID:17091472|REF_RGD_ID:1600814 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9005873 Tongue Neoplasms severity ISO RGD:2323 D RGD:9068941 20200609 RGD protein:decreased expression:tongue PMID:18804414|REF_RGD_ID:11252155 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26410583 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737039 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10070944|PMID:10229204|PMID:10338331|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12072543|PMID:12118338|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12556369|PMID:12606942|PMID:12673200|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14508519|PMID:14584079|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15945100|PMID:16169933|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16608795|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17340131|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17495976|PMID:17576681|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18025365|PMID:18178632|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18519632|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21614589|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23757202|PMID:23897584|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26104880|PMID:26206375|PMID:26225579|PMID:26295973|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737039 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28944238|PMID:28979722|PMID:29091774|PMID:29263814|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29758216|PMID:29774366|PMID:29922827|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31382929|PMID:31775759|PMID:31921681|PMID:32113160|PMID:32191290|PMID:33309985|PMID:33322357|PMID:33823155|PMID:33945383|PMID:35001868|PMID:7566978|PMID:7569991|PMID:7614482|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777061|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737039 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10070944|PMID:10229204|PMID:10338331|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12118338|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12556369|PMID:12606942|PMID:12673200|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14584079|PMID:14646619|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16608795|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17340131|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17495976|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26557774|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737039 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29110637|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30306255|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069952|PMID:35001868|PMID:5001868|PMID:7566978|PMID:7614482|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737039 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29110637|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30306255|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34426522|PMID:35001868|PMID:5001868|PMID:7566978|PMID:7614482|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29110637|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30306255|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34426522|PMID:35001868|PMID:5001868|PMID:539244|PMID:7566978|PMID:7614482|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29110637|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30306255|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34369425|PMID:34426522|PMID:35001868|PMID:5001868|PMID:539244|PMID:7566978|PMID:7614482|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737039 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12556369|PMID:12606942|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14646619|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16608795|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17340131|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17495976|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737039 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29110637|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30306255|PMID:30339520|PMID:30548481|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31382929|PMID:31432501|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34369425|PMID:34426522|PMID:35001868|PMID:36988593|PMID:5001868|PMID:539244|PMID:7566978|PMID:7614482|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9007150 Urogenital Neoplasms ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17300232 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9007188 Liver Neoplasms ISO RGD:737039 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:12378512|PMID:16317707|PMID:27064257|PMID:33010264 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9007364 Mouth Neoplasms ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24991542 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9007502 Brain Neoplasms ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15144691|PMID:16860786 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9007702 Carcinogenesis ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21526190 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9007715 Endometrial Neoplasms severity ISO RGD:737039 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:16837908|REF_RGD_ID:2289683 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9007973 Genetic Translocation ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21325069|PMID:21526190 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:737039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:25741868|PMID:26619011|PMID:28492532 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9008165 Chromosome Deletion ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21526190 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9008443 Colorectal Neoplasms ISO RGD:737039 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:11477665|PMID:11500805|PMID:11687599|PMID:12072543|PMID:16905682|PMID:17576681|PMID:18573309|PMID:21462282|PMID:25356972|PMID:25741868|PMID:26619011|PMID:26681309|PMID:26775776|PMID:28492532|PMID:28830827|PMID:29983899|PMID:8573142|PMID:8595405|PMID:8723678|PMID:9536098|PMID:9751050|PMID:9823374 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9008939 Breast Neoplasms ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20948315 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9008939 Breast Neoplasms ISO RGD:737039 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:8686738|REF_RGD_ID:2289690 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:737039 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:23712779|REF_RGD_ID:8552384 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:737039 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.A148T PMID:15879498|REF_RGD_ID:2289688 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9119 acute myeloid leukemia ISO RGD:737039 D RGD:9068941 20200609 RGD mRNA,protein:altered expression:bone marrow: PMID:11697625|REF_RGD_ID:11252080 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:737039 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:11064355|REF_RGD_ID:11251749 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9538 multiple myeloma ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16008847 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9538 multiple myeloma disease_progression ISO RGD:737039 D RGD:9068941 20200609 RGD DNA:hypermethylation:: PMID:12681979|REF_RGD_ID:11252185 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9952 acute lymphoblastic leukemia ISO RGD:737039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453839 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:737039 D RGD:9068941 20200609 RGD PMID:25675863|REF_RGD_ID:11252082 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:737039 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:10090949|REF_RGD_ID:11251764 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:737039 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:9204978|REF_RGD_ID:11252081 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:737039 D RGD:9068941 20200609 RGD DNA:missense mutations:cds: PMID:26104880|REF_RGD_ID:11057958 11982537 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9970 obesity ISO RGD:2323 D RGD:9068941 20200609 RGD PMID:22194422|REF_RGD_ID:8552660 11982549 HSPB6 heat shock protein family B (small) member 6 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1343256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11982549 HSPB6 heat shock protein family B (small) member 6 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1343256 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11982549 HSPB6 heat shock protein family B (small) member 6 gene DOID:114 heart disease ISO RGD:1343256 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18948619 11982549 HSPB6 heat shock protein family B (small) member 6 gene DOID:543 dystonia ISO RGD:1343256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11982549 HSPB6 heat shock protein family B (small) member 6 gene DOID:630 genetic disease ISO RGD:1343256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982549 HSPB6 heat shock protein family B (small) member 6 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1343256 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18948619 11982555 LOC100979469 olfactory receptor 1F1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1348262 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11982555 LOC100979469 olfactory receptor 1F1 gene DOID:10487 Hirschsprung's disease ISO RGD:1348262 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 11982555 LOC100979469 olfactory receptor 1F1 gene DOID:1826 epilepsy ISO RGD:1348262 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11982555 LOC100979469 olfactory receptor 1F1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1348262 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11982555 LOC100979469 olfactory receptor 1F1 gene DOID:630 genetic disease ISO RGD:1348262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982559 ZDHHC23 zinc finger DHHC-type palmitoyltransferase 23 gene DOID:630 genetic disease ISO RGD:1345232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982559 ZDHHC23 zinc finger DHHC-type palmitoyltransferase 23 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11982592 TLE1 TLE family member 1, transcriptional corepressor gene DOID:630 genetic disease ISO RGD:1319465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982629 CD274 CD274 molecule gene DOID:0040083 Chlamydia pneumonia ISO RGD:1553554 D RGD:9068941 20210219 RGD mRNA:increased expression:lung PMID:26378990|REF_RGD_ID:41412180 11982629 CD274 CD274 molecule gene DOID:0050523 adult T-cell leukemia/lymphoma disease_progression ISO RGD:1605684 D RGD:9068941 20210219 RGD PMID:27418641|REF_RGD_ID:41412177 11982629 CD274 CD274 molecule gene DOID:0050784 primary progressive multiple sclerosis severity ISO RGD:1553554 D RGD:9068941 20200609 RGD PMID:21494618|REF_RGD_ID:6893669 11982629 CD274 CD274 molecule gene DOID:0060058 lymphoma ISO RGD:1605684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28736328 11982629 CD274 CD274 molecule gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1605684 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 11982629 CD274 CD274 molecule gene DOID:0080158 herpes simplex virus keratitis ISO RGD:1553554 D RGD:9068941 20210219 RGD PMID:16253242|REF_RGD_ID:41410794 11982629 CD274 CD274 molecule gene DOID:0080159 cryptococcal meningitis treatment ISO RGD:1605684 D RGD:9068941 20210219 RGD PMID:29058791|REF_RGD_ID:41412178 11982629 CD274 CD274 molecule gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma disease_progression ISO RGD:1605684 D RGD:9068941 20210219 RGD associated with Epstein-Barr Virus Infections PMID:27595782|REF_RGD_ID:41412182 11982629 CD274 CD274 molecule gene DOID:10534 stomach cancer disease_progression ISO RGD:1605684 D RGD:9068941 20210219 RGD PMID:32089413|PMID:32380498|REF_RGD_ID:40818238|REF_RGD_ID:41410803 11982629 CD274 CD274 molecule gene DOID:10591 pre-eclampsia treatment ISO RGD:1566211 D RGD:9068941 20201203 RGD PMID:27277012|REF_RGD_ID:40886269 11982629 CD274 CD274 molecule gene DOID:11166 papillomavirus infectious disease ISO RGD:1605684 D RGD:9068941 20201203 RGD associated with cervix uteri carcinoma in situ; protein:increased expression:dendritic cell PMID:23521696|REF_RGD_ID:40822817 11982629 CD274 CD274 molecule gene DOID:11260 rabies ISO RGD:1553554 D RGD:9068941 20210219 RGD PMID:18490751|REF_RGD_ID:41410795 11982629 CD274 CD274 molecule gene DOID:1205 allergic disease ISO RGD:1605684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20488241|PMID:23624239 11982629 CD274 CD274 molecule gene DOID:12148 alveolar echinococcosis treatment ISO RGD:1553554 D RGD:9068941 20210212 RGD PMID:30315719|REF_RGD_ID:41410787 11982629 CD274 CD274 molecule gene DOID:12155 lymphocytic choriomeningitis ISO RGD:1553554 D RGD:9068941 20210219 RGD PMID:23230000|REF_RGD_ID:41410802 11982629 CD274 CD274 molecule gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1553554 D RGD:9068941 20201112 RGD protein:increased expression: lung PMID:25465101|REF_RGD_ID:11056952 11982629 CD274 CD274 molecule gene DOID:1273 respiratory syncytial virus infectious disease severity ISO RGD:1553554 D RGD:9068941 20201112 RGD PMID:25465101|REF_RGD_ID:11056952 11982629 CD274 CD274 molecule gene DOID:14115 toxic shock syndrome ISO RGD:1605684 D RGD:9068941 20201203 RGD protein:increased expression:serum PMID:29702526|REF_RGD_ID:40822808 11982629 CD274 CD274 molecule gene DOID:14115 toxic shock syndrome severity ISO RGD:1605684 D RGD:9068941 20210212 RGD protein:increased expression:lymphocyte, mononcyte PMID:26063974|REF_RGD_ID:41410786 11982629 CD274 CD274 molecule gene DOID:1731 histoplasmosis ISO RGD:1553554 D RGD:9068941 20201203 RGD protein:increased expression:macrophage, dendritic cell, lymphocyte, splenocytes, PMID:18268348|REF_RGD_ID:40822806 11982629 CD274 CD274 molecule gene DOID:1883 hepatitis C ISO RGD:1605684 D RGD:9068941 20210219 RGD protein:increased expression:dendritic cell PMID:20513078|REF_RGD_ID:41410799 11982629 CD274 CD274 molecule gene DOID:2048 autoimmune hepatitis ISO RGD:1553554 D RGD:9068941 20210219 RGD PMID:19781375|REF_RGD_ID:41412171 11982629 CD274 CD274 molecule gene DOID:219 colon cancer treatment ISO RGD:1553554 D RGD:9068941 20210219 RGD PMID:28424330|REF_RGD_ID:41410791 11982629 CD274 CD274 molecule gene DOID:2394 ovarian cancer ISO RGD:1553554 D RGD:9068941 20210219 RGD associated with ovarian cancer PMID:23340297|REF_RGD_ID:41410797 11982629 CD274 CD274 molecule gene DOID:2394 ovarian cancer treatment ISO RGD:1553554 D RGD:9068941 20210219 RGD PMID:28424330|REF_RGD_ID:41410791 11982629 CD274 CD274 molecule gene DOID:2841 asthma treatment ISO RGD:1553554 D RGD:9068941 20210219 RGD associated with Chlamydia pneumonia PMID:26378990|REF_RGD_ID:41412180 11982629 CD274 CD274 molecule gene DOID:2957 pulmonary tuberculosis ISO RGD:1605684 D RGD:9068941 20201203 RGD protein:increased expression:Tcell, B cell, monocyte PMID:23661793|REF_RGD_ID:40818418 11982629 CD274 CD274 molecule gene DOID:303 substance-related disorder ISO RGD:1605684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11982629 CD274 CD274 molecule gene DOID:3951 acute myocarditis ISO RGD:1553554 D RGD:9068941 20201203 RGD associated with Coxsackievirus Infections;protein:increased expression:ventricle: PMID:17434153|REF_RGD_ID:40822819 11982629 CD274 CD274 molecule gene DOID:399 tuberculosis ISO RGD:1605684 D RGD:9068941 20210219 RGD mRNA, protein:increased expression:blood, neutrophil PMID:21509782|REF_RGD_ID:41412173 11982629 CD274 CD274 molecule gene DOID:4780 anti-basement membrane glomerulonephritis treatment ISO RGD:1553554 D RGD:9068941 20200609 RGD PMID:21965585|REF_RGD_ID:7248671 11982629 CD274 CD274 molecule gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1605684 D RGD:9068941 20210219 RGD PMID:30161254|PMID:30236481|REF_RGD_ID:41412179|REF_RGD_ID:41412181 11982629 CD274 CD274 molecule gene DOID:630 genetic disease ISO RGD:1605684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982629 CD274 CD274 molecule gene DOID:646 viral encephalitis ISO RGD:1553554 D RGD:9068941 20201113 RGD PMID:20876353|PMID:31105690|REF_RGD_ID:40818239|REF_RGD_ID:6893671 11982629 CD274 CD274 molecule gene DOID:646 viral encephalitis ISO RGD:1553554 D RGD:9068941 20201113 RGD protein:increased expression: myeloid cells, microglia, astrocytes PMID:31105690|REF_RGD_ID:40818239 11982629 CD274 CD274 molecule gene DOID:684 hepatocellular carcinoma ISO RGD:1605684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22396772 11982629 CD274 CD274 molecule gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1605684 D RGD:9068941 20201113 RGD associated with hepatitis B PMID:30267213|REF_RGD_ID:40818240 11982629 CD274 CD274 molecule gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1605684 D RGD:9068941 20210219 RGD associated with hepatitis B PMID:21912640|REF_RGD_ID:41410800 11982629 CD274 CD274 molecule gene DOID:824 periodontitis ISO RGD:1566211 D RGD:9068941 20201203 RGD protein:increased expression:periodontium PMID:32346701|REF_RGD_ID:40886271 11982629 CD274 CD274 molecule gene DOID:8469 influenza ISO RGD:1605684 D RGD:9068941 20210219 RGD PMID:24187568|REF_RGD_ID:41410793 11982629 CD274 CD274 molecule gene DOID:8566 herpes simplex ISO RGD:1553554 D RGD:9068941 20210219 RGD PMID:29669784|REF_RGD_ID:41412169 11982629 CD274 CD274 molecule gene DOID:8991 cervix uteri carcinoma in situ severity ISO RGD:1605684 D RGD:9068941 20201203 RGD associated with Papillomavirus Infections; protein:increased expression:dendritic cell PMID:23521696|REF_RGD_ID:40822817 11982629 CD274 CD274 molecule gene DOID:9000039 Spinal Cord Injuries ISO RGD:1566211 D RGD:9068941 20201203 RGD mRNA:increased expression:microglial cell PMID:29665726|REF_RGD_ID:40886268 11982629 CD274 CD274 molecule gene DOID:9000220 Coxsackievirus Infections treatment ISO RGD:1553554 D RGD:9068941 20201203 RGD PMID:30904424|REF_RGD_ID:40818421 11982629 CD274 CD274 molecule gene DOID:9000277 Radiation-Induced Neoplasms ISO RGD:1605684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28736328 11982629 CD274 CD274 molecule gene DOID:9000918 Disease Progression ISO RGD:1605684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27692344 11982629 CD274 CD274 molecule gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1605684 D RGD:9068941 20210219 RGD associated with ovarian cancer PMID:23340297|REF_RGD_ID:41410797 11982629 CD274 CD274 molecule gene DOID:9001228 Fungemia treatment ISO RGD:1553554 D RGD:9068941 20201112 RGD PMID:23663657|REF_RGD_ID:40818234 11982629 CD274 CD274 molecule gene DOID:9002780 Recurrent Respiratory Papillomatosis ISO RGD:1605684 D RGD:9068941 20201203 RGD protein:increased expression: larynx PMID:22322668|REF_RGD_ID:40822813 11982629 CD274 CD274 molecule gene DOID:9002801 Recurrence ISO RGD:1605684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22396772 11982629 CD274 CD274 molecule gene DOID:9003223 Corneal Graft Rejection treatment ISO RGD:1566211 D RGD:9068941 20210219 RGD PMID:22300371|REF_RGD_ID:41412184 11982629 CD274 CD274 molecule gene DOID:9004017 Chronic Hepatitis C ISO RGD:1605684 D RGD:9068941 20210219 RGD protein:increased expression:peripheral blood mononuclear cell PMID:18086898|REF_RGD_ID:41410796 11982629 CD274 CD274 molecule gene DOID:9004283 Transplant Rejection ISO RGD:1553554 D RGD:9068941 20200609 RGD PMID:14662900|REF_RGD_ID:8657367 11982629 CD274 CD274 molecule gene DOID:9004484 Sepsis ISO RGD:1605684 D RGD:9068941 20201112 RGD protein:increased expression:monocyte PMID:30595665|REF_RGD_ID:40818235 11982629 CD274 CD274 molecule gene DOID:9004484 Sepsis ISO RGD:1605684 D RGD:9068941 20201203 RGD protein:increased expression:B cell,CD4T cell PMID:29661225|REF_RGD_ID:40818424 11982629 CD274 CD274 molecule gene DOID:9004484 Sepsis disease_progression ISO RGD:1605684 D RGD:9068941 20201203 RGD PMID:29702526|REF_RGD_ID:40822808 11982629 CD274 CD274 molecule gene DOID:9004484 Sepsis disease_progression ISO RGD:1605684 D RGD:9068941 20210219 RGD protein:increased expression:monocyte PMID:27156867|REF_RGD_ID:41412183 11982629 CD274 CD274 molecule gene DOID:9005161 Thymus Neoplasms ISO RGD:1605684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28736328 11982629 CD274 CD274 molecule gene DOID:9005172 Lung Neoplasms ISO RGD:1605684 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:27692344|PMID:34166680 11982629 CD274 CD274 molecule gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:1566211 D RGD:9068941 20201203 RGD PMID:29043842|REF_RGD_ID:40886270 11982629 CD274 CD274 molecule gene DOID:9006644 Retroviridae Infections treatment ISO RGD:1553554 D RGD:9068941 20210219 RGD PMID:24187568|REF_RGD_ID:41410793 11982629 CD274 CD274 molecule gene DOID:9006925 Hepatic Echinococcosis ISO RGD:1553554 D RGD:9068941 20210219 RGD mRNA, protein:increased expression:liver PMID:25907244|REF_RGD_ID:41412175 11982629 CD274 CD274 molecule gene DOID:9006928 Viral Bronchiolitis ISO RGD:1553554 D RGD:9068941 20201117 RGD mRNA:increased expression:lung PMID:22797302|REF_RGD_ID:40818270 11982629 CD274 CD274 molecule gene DOID:9006928 Viral Bronchiolitis treatment ISO RGD:1553554 D RGD:9068941 20201117 RGD PMID:22797302|REF_RGD_ID:40818270 11982629 CD274 CD274 molecule gene DOID:9008163 Chronic Hepatitis B ISO RGD:1605684 D RGD:9068941 20210219 RGD protein:increased expression:regulatory T cell PMID:26266813|REF_RGD_ID:11344683 11982629 CD274 CD274 molecule gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1553554 D RGD:9068941 20210219 RGD PMID:20460044|REF_RGD_ID:41412166 11982629 CD274 CD274 molecule gene DOID:9111 cutaneous leishmaniasis ISO RGD:1553554 D RGD:9068941 20210219 RGD PMID:16358363|REF_RGD_ID:41410801 11982643 GCC1 GRIP and coiled-coil domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11982643 GCC1 GRIP and coiled-coil domain containing 1 gene DOID:5062 phencyclidine abuse ISO RGD:1352654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 11982643 GCC1 GRIP and coiled-coil domain containing 1 gene DOID:630 genetic disease ISO RGD:1352654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982643 GCC1 GRIP and coiled-coil domain containing 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1352654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 11982643 GCC1 GRIP and coiled-coil domain containing 1 gene DOID:9505 cannabis abuse ISO RGD:1352654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 11982649 TAF7 TATA-box binding protein associated factor 7 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1320545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11982649 TAF7 TATA-box binding protein associated factor 7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1320545 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11982649 TAF7 TATA-box binding protein associated factor 7 gene DOID:630 genetic disease ISO RGD:1320545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982649 TAF7 TATA-box binding protein associated factor 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11982649 TAF7 TATA-box binding protein associated factor 7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320545 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11982654 PTDSS1 phosphatidylserine synthase 1 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1319019 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant PMID:24442880|PMID:28492532 11982654 PTDSS1 phosphatidylserine synthase 1 gene DOID:0111507 Lenz-Majewski hyperostotic dwarfism ISO RGD:1319019 D RGD:7240710 20180130 OMIM 11982654 PTDSS1 phosphatidylserine synthase 1 gene DOID:0111507 Lenz-Majewski hyperostotic dwarfism ISO RGD:1319019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lenz-Majewski hyperostosis syndrome PMID:10756342|PMID:15194948|PMID:24241535|PMID:25741868|PMID:2773987 11982654 PTDSS1 phosphatidylserine synthase 1 gene DOID:10907 microcephaly ISO RGD:1319019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11982654 PTDSS1 phosphatidylserine synthase 1 gene DOID:630 genetic disease ISO RGD:1319019 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11982672 SLC51A solute carrier family 51 subunit alpha gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1604974 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 11982672 SLC51A solute carrier family 51 subunit alpha gene DOID:12236 primary biliary cholangitis ISO RGD:1604974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16423920 11982672 SLC51A solute carrier family 51 subunit alpha gene DOID:12849 autistic disorder ISO RGD:1604974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11982672 SLC51A solute carrier family 51 subunit alpha gene DOID:13580 cholestasis ISO RGD:1604974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16423920|PMID:22461449 11982672 SLC51A solute carrier family 51 subunit alpha gene DOID:1561 cognitive disorder ISO RGD:1604974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 11982672 SLC51A solute carrier family 51 subunit alpha gene DOID:5419 schizophrenia ISO RGD:1604974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11982672 SLC51A solute carrier family 51 subunit alpha gene DOID:630 genetic disease ISO RGD:1604974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982672 SLC51A solute carrier family 51 subunit alpha gene DOID:9002471 Progressive Familial Intrahepatic Cholestasis 6 ISO RGD:1604974 D RGD:7240710 20210825 OMIM 11982672 SLC51A solute carrier family 51 subunit alpha gene DOID:9002471 Progressive Familial Intrahepatic Cholestasis 6 ISO RGD:1604974 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 6 PMID:25741868|PMID:31863603 11982672 SLC51A solute carrier family 51 subunit alpha gene DOID:9002661 Diabetes Complications ISO RGD:1604974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 11982687 DAD1 defender against cell death 1 gene DOID:630 genetic disease ISO RGD:1350029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982687 DAD1 defender against cell death 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1350029 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11982694 RGS21 regulator of G protein signaling 21 gene DOID:1540 parathyroid carcinoma ISO RGD:1353958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11982694 RGS21 regulator of G protein signaling 21 gene DOID:630 genetic disease ISO RGD:1353958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982694 RGS21 regulator of G protein signaling 21 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1353958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:28774260 11982694 RGS21 regulator of G protein signaling 21 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:0080351 CLOVES syndrome ISO RGD:731958 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: CLOVE SYNDROME PMID:25741868|PMID:34040190 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:0081139 agammaglobulinemia 7 ISO RGD:731958 D RGD:7240710 20180130 OMIM 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:0081139 agammaglobulinemia 7 ISO RGD:731958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 7, autosomal recessive PMID:18414213|PMID:22351933|PMID:24033266|PMID:25133428|PMID:25741868|PMID:28492532 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:0111454 SHORT syndrome ISO RGD:731958 D RGD:7240710 20180130 OMIM 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:0111454 SHORT syndrome ISO RGD:731958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SHORT syndrome PMID:10768093|PMID:11135494|PMID:12514365|PMID:16199547|PMID:17576681|PMID:18384141|PMID:18414213|PMID:22351933|PMID:23810378|PMID:23810379|PMID:23810382|PMID:23980586|PMID:24033266|PMID:24088041|PMID:24459181|PMID:24728327|PMID:24886349|PMID:25133428|PMID:25157968|PMID:25326637|PMID:25488983|PMID:25741868|PMID:25939554|PMID:26497935|PMID:26529633|PMID:26633545|PMID:26974159|PMID:269880|PMID:27076228|PMID:27116393|PMID:27221134|PMID:27693481|PMID:27766312|PMID:28104464|PMID:28143957|PMID:28302518|PMID:28492532|PMID:28632845|PMID:29051493|PMID:29178053|PMID:29636477|PMID:29740032|PMID:32499645|PMID:34008892|PMID:6407320|PMID:7705412|PMID:8574420|PMID:9536098 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:0111949 immunodeficiency 36 ISO RGD:731958 D RGD:7240710 20180130 OMIM 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:0111949 immunodeficiency 36 ISO RGD:731958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 36 PMID:11135494|PMID:12514365|PMID:18384141|PMID:18414213|PMID:22351933|PMID:23810378|PMID:23810379|PMID:23810382|PMID:23980586|PMID:24033266|PMID:24886349|PMID:25133428|PMID:25326637|PMID:25488983|PMID:25741868|PMID:25939554|PMID:26529633|PMID:26974159|PMID:269880|PMID:27076228|PMID:27116393|PMID:27221134|PMID:27693481|PMID:27766312|PMID:28104464|PMID:28302518|PMID:28492532|PMID:28632845|PMID:34008892|PMID:6407320|PMID:7705412|PMID:8574420 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:10283 prostate cancer ISO RGD:731958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:731958 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:lower in high versus low Gleason score tumors (p<0.05 compared to at least one housekeeping gene) PMID:18336616|REF_RGD_ID:2301729 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:10603 glucose intolerance ISO RGD:731958 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:33567340 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:731958 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M326I (human) PMID:12185156|REF_RGD_ID:1625215 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:10762 portal hypertension ISO RGD:3329 D RGD:9068941 20200609 RGD protein:altered localization, increased tyrosine phosphorylation:plasma membrane, stomach mucosa PMID:11826414|REF_RGD_ID:1625216 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:10763 hypertension ISO RGD:3329 D RGD:9068941 20200609 RGD PMID:19015400|REF_RGD_ID:4108483 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:10763 hypertension ISO RGD:3329 D RGD:9068941 20200609 RGD protein:decreased expression:ventricular myocyte (rat) PMID:18300869|REF_RGD_ID:4108492 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:12306 vitiligo ISO RGD:731958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28836394 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:1380 endometrial cancer ISO RGD:731958 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:21984976|REF_RGD_ID:13674179 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:14179 X-linked agammaglobulinemia ISO RGD:11103 D RGD:9068941 20220825 MouseDO OMIM:300310 | OMIM:300755 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:14566 disease of cellular proliferation ISO RGD:731958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:19962457|PMID:22351933|PMID:24459181|PMID:25133428|PMID:25157968|PMID:26619011|PMID:28104464|PMID:28492532|PMID:29051493 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:1909 melanoma ISO RGD:731958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:25157968|PMID:26619011 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:2870 endometrial adenocarcinoma ISO RGD:731958 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:21478295|REF_RGD_ID:13441595 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:2871 endometrial carcinoma ISO RGD:731958 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:23636398|REF_RGD_ID:13628733 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:305 carcinoma ISO RGD:731958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:3068 glioblastoma ISO RGD:731958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:19962457|PMID:25157968|PMID:26619011 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:363 uterine cancer ISO RGD:731958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:25157968|PMID:26619011 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:3910 lung adenocarcinoma ISO RGD:731958 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:26695082|REF_RGD_ID:13464334 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:731958 D RGD:9068941 20200609 RGD PMID:25757764|REF_RGD_ID:13504823 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:731958 D RGD:9068941 20200609 RGD DNA:SNPs: :rs3756668,rs12755(human) PMID:28280736|REF_RGD_ID:13825123 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:612 primary immunodeficiency disease ISO RGD:731958 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:16199547|PMID:22351933|PMID:25133428|PMID:25488983|PMID:25741868|PMID:25939554|PMID:27076228|PMID:27116393|PMID:27693481|PMID:28302518|PMID:28492532|PMID:32499645 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:6171 uterine carcinosarcoma ISO RGD:731958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:19962457|PMID:25157968|PMID:26619011 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:630 genetic disease ISO RGD:731958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11135494|PMID:12514365|PMID:18384141|PMID:22351933|PMID:23810378|PMID:23810379|PMID:23810382|PMID:23980586|PMID:24886349|PMID:25133428|PMID:25326637|PMID:25488983|PMID:25741868|PMID:25939554|PMID:26529633|PMID:26974159|PMID:269880|PMID:27076228|PMID:27116393|PMID:27221134|PMID:27693481|PMID:27766312|PMID:28302518|PMID:28492532|PMID:28632845|PMID:34008892|PMID:6407320|PMID:7705412|PMID:8574420 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:3329 D RGD:9068941 20220520 RGD PMID:25999787|PMID:31801250|REF_RGD_ID:151893509|REF_RGD_ID:152177911 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:7148 rheumatoid arthritis ISO RGD:731958 D RGD:9068941 20220519 RGD mRNA:increased expression:cartilage tissue (human) PMID:31472145|REF_RGD_ID:152177908 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:7305 astroblastoma ISO RGD:731958 D RGD:9068941 20200609 RGD PMID:26956052|REF_RGD_ID:11343921 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:7305 astroblastoma severity ISO RGD:731958 D RGD:9068941 20200609 RGD PMID:26286747|REF_RGD_ID:13782052 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:8398 osteoarthritis ISO RGD:731958 D RGD:9068941 20220519 RGD mRNA:increased expression:cartilage tissue (human) PMID:31472145|REF_RGD_ID:152177908 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:8584 Burkitt lymphoma ISO RGD:731958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:8923 skin melanoma ISO RGD:731958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:19962457|PMID:25157968|PMID:26619011 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731958 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:29610475|PMID:29662167|PMID:33129824 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9002992 Nematode Infections susceptibility ISO RGD:11103 D RGD:9068941 20200609 RGD PMID:11850627|REF_RGD_ID:737789 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9004009 Reperfusion Injury ISO RGD:3329 D RGD:9068941 20200609 RGD proetin:decreased dimerization:skeletal muscle (rat) PMID:19100383|REF_RGD_ID:4108481 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3329 D RGD:9068941 20200609 RGD protein:increased expression:gastrocnemius (rat) PMID:18430054|REF_RGD_ID:2307338 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9007367 Septic Peritonitis treatment ISO RGD:11103 D RGD:9068941 20200609 RGD PMID:11850627|REF_RGD_ID:737789 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9007502 Brain Neoplasms ISO RGD:731958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain PMID:19962457|PMID:25157968|PMID:26619011 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9007692 Insulin Resistance ISO RGD:11103 D RGD:9068941 20200609 RGD PMID:17283057|REF_RGD_ID:1625211 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9007692 Insulin Resistance ISO RGD:3329 D RGD:9068941 20200609 RGD PMID:10426374|REF_RGD_ID:1625262 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9007692 Insulin Resistance ISO RGD:731958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14714311 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9007692 Insulin Resistance ISO RGD:731958 D RGD:9068941 20200609 RGD associated with Pre-Eclampsia;protein:increased tyrosine phosphorylation:placenta PMID:16332940|REF_RGD_ID:1625212 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:731958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:25157968|PMID:26619011 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9008939 Breast Neoplasms ISO RGD:11103 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary tumor (mouse) PMID:17699716|REF_RGD_ID:4108502 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9256 colorectal cancer ISO RGD:731958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:25741868 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3329 D RGD:9068941 20200609 RGD protein:increased phosphorylation:retina (rat) PMID:18443201|REF_RGD_ID:4108490 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:731958 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:14551916|REF_RGD_ID:11067972 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9970 obesity ISO RGD:11103 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation:skeletal muscle, liver PMID:9399964|REF_RGD_ID:1625218 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9970 obesity ISO RGD:3329 D RGD:9068941 20200609 RGD protein:decreased expression:soleus PMID:16123202|REF_RGD_ID:1625220 11982703 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9993 hypoglycemia ISO RGD:11103 D RGD:9068941 20200609 RGD PMID:9988280|REF_RGD_ID:737788 11982737 FOXO4 forkhead box O4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11982737 FOXO4 forkhead box O4 gene DOID:0080147 lymphoblastic lymphoma ISO RGD:1556902 D RGD:9068941 20221027 RGD PMID:17254969|REF_RGD_ID:155630604 11982737 FOXO4 forkhead box O4 gene DOID:1059 intellectual disability ISO RGD:1353756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11982737 FOXO4 forkhead box O4 gene DOID:10808 gastric ulcer ISO RGD:1561201 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:gastric mucosa: PMID:22735908|REF_RGD_ID:10402364 11982737 FOXO4 forkhead box O4 gene DOID:12849 autistic disorder ISO RGD:1353756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11982737 FOXO4 forkhead box O4 gene DOID:251 alcohol-induced mental disorder ISO RGD:1561201 D RGD:9068941 20200609 RGD protein:increased phosphorylation:small intestine: PMID:23292333|REF_RGD_ID:10402360 11982737 FOXO4 forkhead box O4 gene DOID:255 hemangioma ISO RGD:1556902 D RGD:9068941 20221027 RGD PMID:17254969|REF_RGD_ID:155630604 11982737 FOXO4 forkhead box O4 gene DOID:607 paraplegia ISO RGD:1561201 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle: PMID:18236467|REF_RGD_ID:5509082 11982737 FOXO4 forkhead box O4 gene DOID:630 genetic disease ISO RGD:1353756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982737 FOXO4 forkhead box O4 gene DOID:9002514 Neointima ISO RGD:1556902 D RGD:9068941 20200609 RGD PMID:17242183|REF_RGD_ID:10402361 11982737 FOXO4 forkhead box O4 gene DOID:9002514 Neointima ISO RGD:1556902 D RGD:9068941 20200609 RGD protein:increased expression:smooth muscle cell: PMID:16054032|REF_RGD_ID:10402362 11982737 FOXO4 forkhead box O4 gene DOID:9007898 FG Syndrome 1 ISO RGD:1353756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 11982737 FOXO4 forkhead box O4 gene DOID:9008824 Sarcopenia ISO RGD:1561201 D RGD:9068941 20200609 RGD PMID:16870627|REF_RGD_ID:10402356 11982760 LOC100967245 NADH-cytochrome b5 reductase 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1314495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11982760 LOC100967245 NADH-cytochrome b5 reductase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1314495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11982760 LOC100967245 NADH-cytochrome b5 reductase 1 gene DOID:630 genetic disease ISO RGD:1314495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982760 LOC100967245 NADH-cytochrome b5 reductase 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1314495 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11982760 LOC100967245 NADH-cytochrome b5 reductase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11982773 HESX1 HESX homeobox 1 gene DOID:0060857 septooptic dysplasia ISO RGD:1353119 D RGD:7240710 20200115 OMIM 11982773 HESX1 HESX homeobox 1 gene DOID:0060857 septooptic dysplasia ISO RGD:1353119 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence | ClinVar Annotator: match by term: Septooptic dysplasia, mild PMID:10599689|PMID:11136712|PMID:11748154|PMID:14557462|PMID:16199547|PMID:16940453|PMID:17148560|PMID:17315526|PMID:17576681|PMID:18852528|PMID:21270112|PMID:21325470|PMID:22466334|PMID:23465708|PMID:24703149|PMID:25741868|PMID:25910213|PMID:26781211|PMID:27000987|PMID:2700987|PMID:27013732|PMID:27343026|PMID:28332357|PMID:28396770|PMID:28492532|PMID:30888394|PMID:31022718|PMID:31395954|PMID:32796691|PMID:32870266|PMID:33451138|PMID:8696006|PMID:9536098|PMID:9620767 11982773 HESX1 HESX homeobox 1 gene DOID:13938 amenorrhea ISO RGD:1353119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:21325470|PMID:23465708|PMID:24703149|PMID:25741868|PMID:28492532|PMID:32870266 11982773 HESX1 HESX homeobox 1 gene DOID:630 genetic disease ISO RGD:1353119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11136712|PMID:17315526|PMID:17576681|PMID:22145475|PMID:23465708|PMID:25741868|PMID:28492532|PMID:9536098 11982773 HESX1 HESX homeobox 1 gene DOID:9002446 Combined Pituitary Hormone Deficiency 5 ISO RGD:1353119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth hormone deficiency with pituitary anomalies | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 5 PMID:11136712|PMID:14561704|PMID:16940453|PMID:17148560|PMID:18852528|PMID:28492532|PMID:31022718|PMID:33451138 11982773 HESX1 HESX homeobox 1 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1353119 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 11982773 HESX1 HESX homeobox 1 gene DOID:9005344 Combined Pituitary Hormone Deficiency 1 ISO RGD:1353119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant/Recessive | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 PMID:21325470|PMID:23465708|PMID:24703149|PMID:25741868|PMID:28492532|PMID:32870266 11982773 HESX1 HESX homeobox 1 gene DOID:9406 hypopituitarism ISO RGD:1558586 D RGD:9068941 20220825 MouseDO OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 11982785 FGF2 fibroblast growth factor 2 gene DOID:0002116 pterygium ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:20198298|REF_RGD_ID:8554855 11982785 FGF2 fibroblast growth factor 2 gene DOID:0080001 bone disease ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17066631|REF_RGD_ID:2315858 11982785 FGF2 fibroblast growth factor 2 gene DOID:0080600 COVID-19 severity ISO RGD:70822 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 11982785 FGF2 fibroblast growth factor 2 gene DOID:0080855 Parkinsonism treatment ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:27228974|REF_RGD_ID:13801017 11982785 FGF2 fibroblast growth factor 2 gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:70822 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:8098714|REF_RGD_ID:2317763 11982785 FGF2 fibroblast growth factor 2 gene DOID:10763 hypertension ISO RGD:2609 D RGD:9068941 20200609 RGD associated with Aortic Coarctation PMID:17562191|REF_RGD_ID:8655614 11982785 FGF2 fibroblast growth factor 2 gene DOID:10808 gastric ulcer treatment ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:9127818|REF_RGD_ID:8655642 11982785 FGF2 fibroblast growth factor 2 gene DOID:10964 cholesteatoma of middle ear ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:11078065|REF_RGD_ID:8547968 11982785 FGF2 fibroblast growth factor 2 gene DOID:11054 urinary bladder cancer ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:11908679|REF_RGD_ID:2290291 11982785 FGF2 fibroblast growth factor 2 gene DOID:11382 corneal neovascularization ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9301478 11982785 FGF2 fibroblast growth factor 2 gene DOID:11382 corneal neovascularization ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:11437330|REF_RGD_ID:8655668 11982785 FGF2 fibroblast growth factor 2 gene DOID:11664 nephrosclerosis ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 11982785 FGF2 fibroblast growth factor 2 gene DOID:11714 gestational diabetes ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20421132 11982785 FGF2 fibroblast growth factor 2 gene DOID:1184 nephrotic syndrome ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21441931 11982785 FGF2 fibroblast growth factor 2 gene DOID:127 leiomyoma disease_progression ISO RGD:70822 D RGD:9068941 20200609 RGD protein:increased expression:uterus PMID:16139411|REF_RGD_ID:2290287 11982785 FGF2 fibroblast growth factor 2 gene DOID:1380 endometrial cancer disease_progression ISO RGD:70822 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myometrium PMID:8685603|REF_RGD_ID:2298516 11982785 FGF2 fibroblast growth factor 2 gene DOID:1561 cognitive disorder ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:17955369|REF_RGD_ID:2315912 11982785 FGF2 fibroblast growth factor 2 gene DOID:1596 depressive disorder ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16861106 11982785 FGF2 fibroblast growth factor 2 gene DOID:1612 breast cancer disease_progression ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:14715109|REF_RGD_ID:8655549 11982785 FGF2 fibroblast growth factor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:70822 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland fluid/secretion PMID:12184408|REF_RGD_ID:8655587 11982785 FGF2 fibroblast growth factor 2 gene DOID:1727 retinal vein occlusion ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:10342378|REF_RGD_ID:8655593 11982785 FGF2 fibroblast growth factor 2 gene DOID:1793 pancreatic cancer ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:12670449|REF_RGD_ID:2317759 11982785 FGF2 fibroblast growth factor 2 gene DOID:1793 pancreatic cancer ISO RGD:70822 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:11562741|REF_RGD_ID:2317760 11982785 FGF2 fibroblast growth factor 2 gene DOID:1793 pancreatic cancer ISO RGD:70822 D RGD:9068941 20200609 RGD protein:increased expression:bile PMID:11478488|REF_RGD_ID:2317765 11982785 FGF2 fibroblast growth factor 2 gene DOID:1793 pancreatic cancer severity ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:9293890|REF_RGD_ID:2317762 11982785 FGF2 fibroblast growth factor 2 gene DOID:1875 impotence ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:15758817|REF_RGD_ID:2315866 11982785 FGF2 fibroblast growth factor 2 gene DOID:2224 essential thrombocythemia ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15682418 11982785 FGF2 fibroblast growth factor 2 gene DOID:2394 ovarian cancer disease_progression ISO RGD:70822 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:14613644|REF_RGD_ID:2290288 11982785 FGF2 fibroblast growth factor 2 gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:14522896|REF_RGD_ID:2290290 11982785 FGF2 fibroblast growth factor 2 gene DOID:2671 transitional cell carcinoma ISO RGD:70822 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:7549793|REF_RGD_ID:2298517 11982785 FGF2 fibroblast growth factor 2 gene DOID:2723 dermatitis ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:16507899|REF_RGD_ID:8554852 11982785 FGF2 fibroblast growth factor 2 gene DOID:2843 long QT syndrome ISO RGD:70822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11982785 FGF2 fibroblast growth factor 2 gene DOID:3070 high grade glioma ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10673511 11982785 FGF2 fibroblast growth factor 2 gene DOID:3213 demyelinating disease ISO RGD:70823 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:11020217|REF_RGD_ID:8655565 11982785 FGF2 fibroblast growth factor 2 gene DOID:3393 coronary artery disease ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:14585103|REF_RGD_ID:2315879 11982785 FGF2 fibroblast growth factor 2 gene DOID:3454 brain infarction ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17524524 11982785 FGF2 fibroblast growth factor 2 gene DOID:3459 breast carcinoma disease_progression ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:8532703|REF_RGD_ID:8655550 11982785 FGF2 fibroblast growth factor 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:18704599|REF_RGD_ID:2317756 11982785 FGF2 fibroblast growth factor 2 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:12717266|REF_RGD_ID:2317758 11982785 FGF2 fibroblast growth factor 2 gene DOID:365 bladder disease ISO RGD:2609 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:urinary bladder PMID:17763394|REF_RGD_ID:2315846 11982785 FGF2 fibroblast growth factor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8952537 11982785 FGF2 fibroblast growth factor 2 gene DOID:4449 macular retinal edema ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;protein:increased expression:aqueous humor PMID:17505145|REF_RGD_ID:8655594 11982785 FGF2 fibroblast growth factor 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:70822 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:1718278|REF_RGD_ID:2290303 11982785 FGF2 fibroblast growth factor 2 gene DOID:4947 cholangiocarcinoma ISO RGD:70822 D RGD:9068941 20200609 RGD protein:increased expression:bile PMID:11478488|REF_RGD_ID:2317765 11982785 FGF2 fibroblast growth factor 2 gene DOID:5041 esophageal cancer ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:29660336|REF_RGD_ID:21409755 11982785 FGF2 fibroblast growth factor 2 gene DOID:5082 liver cirrhosis ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17093919 11982785 FGF2 fibroblast growth factor 2 gene DOID:557 kidney disease ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8995747 11982785 FGF2 fibroblast growth factor 2 gene DOID:5773 oral submucous fibrosis ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 11982785 FGF2 fibroblast growth factor 2 gene DOID:630 genetic disease ISO RGD:70822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982785 FGF2 fibroblast growth factor 2 gene DOID:6432 pulmonary hypertension ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:19197140|REF_RGD_ID:2315911 11982785 FGF2 fibroblast growth factor 2 gene DOID:6432 pulmonary hypertension ISO RGD:70822 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19197140|REF_RGD_ID:2315911 11982785 FGF2 fibroblast growth factor 2 gene DOID:674 cleft palate ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 11982785 FGF2 fibroblast growth factor 2 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023256 11982785 FGF2 fibroblast growth factor 2 gene DOID:823 periapical periodontitis ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16631837 11982785 FGF2 fibroblast growth factor 2 gene DOID:83 cataract ISO RGD:70822 D RGD:9068941 20200609 RGD mRNA:increased expression:lens, epithelial cell PMID:19491954|REF_RGD_ID:8554856 11982785 FGF2 fibroblast growth factor 2 gene DOID:8549 chronic ulcer of skin ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:19638336|REF_RGD_ID:2315843 11982785 FGF2 fibroblast growth factor 2 gene DOID:8717 decubitus ulcer ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:23740668|REF_RGD_ID:8655548 11982785 FGF2 fibroblast growth factor 2 gene DOID:8947 diabetic retinopathy ISO RGD:2609 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:14975211|REF_RGD_ID:2315875 11982785 FGF2 fibroblast growth factor 2 gene DOID:8947 diabetic retinopathy ISO RGD:70822 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:g.754C>G(human) PMID:17997184|REF_RGD_ID:2315845 11982785 FGF2 fibroblast growth factor 2 gene DOID:8947 diabetic retinopathy ISO RGD:70822 D RGD:9068941 20200609 RGD DNA:polymorphism:promotor:g.-553T>A(human) PMID:18279437|REF_RGD_ID:2315844 11982785 FGF2 fibroblast growth factor 2 gene DOID:8947 diabetic retinopathy ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Pregnancy in Diabetics PMID:9141532|REF_RGD_ID:2315885 11982785 FGF2 fibroblast growth factor 2 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:70822 D RGD:9068941 20200609 RGD protein:increased expression:bile PMID:11478488|REF_RGD_ID:2317765 11982785 FGF2 fibroblast growth factor 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2609 D RGD:9068941 20210122 RGD PMID:24968269|REF_RGD_ID:40924652 11982785 FGF2 fibroblast growth factor 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:70823 D RGD:9068941 20200609 RGD PMID:22407271|REF_RGD_ID:8554853 11982785 FGF2 fibroblast growth factor 2 gene DOID:9000528 Coronary Disease ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:15451784|REF_RGD_ID:2315870 11982785 FGF2 fibroblast growth factor 2 gene DOID:9000808 Hypercholesterolemia ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Carcinoma, Ductal, Breast PMID:15491965|REF_RGD_ID:8655598 11982785 FGF2 fibroblast growth factor 2 gene DOID:9000888 Pregnancy in Diabetics ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:14706681|REF_RGD_ID:2315876 11982785 FGF2 fibroblast growth factor 2 gene DOID:9000918 Disease Progression ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12644816 11982785 FGF2 fibroblast growth factor 2 gene DOID:9000998 Brain Injuries ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21269288 11982785 FGF2 fibroblast growth factor 2 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:10359334|REF_RGD_ID:8655568 11982785 FGF2 fibroblast growth factor 2 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19014962 11982785 FGF2 fibroblast growth factor 2 gene DOID:9001384 Kaposiform Hemangioendothelioma ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:14517397|REF_RGD_ID:8655667 11982785 FGF2 fibroblast growth factor 2 gene DOID:9001472 Nasal Polyps ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:16720444|REF_RGD_ID:8655569 11982785 FGF2 fibroblast growth factor 2 gene DOID:9001553 Spinal Cord Compression ISO RGD:2609 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:17244329|REF_RGD_ID:8655633 11982785 FGF2 fibroblast growth factor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16116963 11982785 FGF2 fibroblast growth factor 2 gene DOID:9001600 Wounds and Injuries ISO RGD:2609 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:12533868|REF_RGD_ID:2292211 11982785 FGF2 fibroblast growth factor 2 gene DOID:9001600 Wounds and Injuries ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11842932 11982785 FGF2 fibroblast growth factor 2 gene DOID:9001600 Wounds and Injuries ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:16008728|REF_RGD_ID:2315863 11982785 FGF2 fibroblast growth factor 2 gene DOID:9001600 Wounds and Injuries treatment ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:23603001|REF_RGD_ID:8655580 11982785 FGF2 fibroblast growth factor 2 gene DOID:9001600 Wounds and Injuries treatment ISO RGD:70823 D RGD:9068941 20200609 RGD PMID:21402405|REF_RGD_ID:8655582 11982785 FGF2 fibroblast growth factor 2 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:9561364|REF_RGD_ID:8554857 11982785 FGF2 fibroblast growth factor 2 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:14975212|PMID:8125754|REF_RGD_ID:8655585|REF_RGD_ID:8655591 11982785 FGF2 fibroblast growth factor 2 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:9183688|REF_RGD_ID:8655640 11982785 FGF2 fibroblast growth factor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:70822 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:19279131|REF_RGD_ID:2315842 11982785 FGF2 fibroblast growth factor 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12644816 11982785 FGF2 fibroblast growth factor 2 gene DOID:9002514 Neointima ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:8808969|REF_RGD_ID:8655643 11982785 FGF2 fibroblast growth factor 2 gene DOID:9002560 Penetrating Eye Injuries ISO RGD:70823 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:9268592|REF_RGD_ID:8655567 11982785 FGF2 fibroblast growth factor 2 gene DOID:9002589 Bone Fractures ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:8033826|REF_RGD_ID:2315907 11982785 FGF2 fibroblast growth factor 2 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:16507899|REF_RGD_ID:8554852 11982785 FGF2 fibroblast growth factor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:9814819|REF_RGD_ID:9831448 11982785 FGF2 fibroblast growth factor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2609 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:8929896|REF_RGD_ID:8655647 11982785 FGF2 fibroblast growth factor 2 gene DOID:9002955 Nerve Degeneration ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10203697 11982785 FGF2 fibroblast growth factor 2 gene DOID:9003219 Invasive Pulmonary Aspergillosis treatment ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:23303813|REF_RGD_ID:8655596 11982785 FGF2 fibroblast growth factor 2 gene DOID:9003566 Mesothelioma ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15878867 11982785 FGF2 fibroblast growth factor 2 gene DOID:9003936 Cardiomegaly ISO RGD:2609 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:18196276|REF_RGD_ID:2289364 11982785 FGF2 fibroblast growth factor 2 gene DOID:9003936 Cardiomegaly ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10491406 11982785 FGF2 fibroblast growth factor 2 gene DOID:9004009 Reperfusion Injury ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 11982785 FGF2 fibroblast growth factor 2 gene DOID:9004210 Tympanic Membrane Perforation ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:9840508|REF_RGD_ID:8655577 11982785 FGF2 fibroblast growth factor 2 gene DOID:9004210 Tympanic Membrane Perforation disease_progression ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:20015768|REF_RGD_ID:8655595 11982785 FGF2 fibroblast growth factor 2 gene DOID:9004210 Tympanic Membrane Perforation treatment ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:12897558|PMID:8969759|REF_RGD_ID:11554033|REF_RGD_ID:8655592 11982785 FGF2 fibroblast growth factor 2 gene DOID:9004237 Hyperoxic Lung Injury ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:12626345|REF_RGD_ID:11567262 11982785 FGF2 fibroblast growth factor 2 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:70822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:26299366|PMID:28492532 11982785 FGF2 fibroblast growth factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:70822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11982785 FGF2 fibroblast growth factor 2 gene DOID:9005175 Ulcer ISO RGD:2609 D RGD:9068941 20200609 RGD protein:increased expression, alternative forms:mucosa of stomach PMID:21600881|REF_RGD_ID:8655658 11982785 FGF2 fibroblast growth factor 2 gene DOID:9005372 Inflammation ISO RGD:2609 D RGD:9068941 20200609 RGD associated with Diabetic retinopathy;protein:increased expression:retina PMID:19474406|REF_RGD_ID:2315840 11982785 FGF2 fibroblast growth factor 2 gene DOID:9005372 Inflammation ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21087489 11982785 FGF2 fibroblast growth factor 2 gene DOID:9005605 Arteriovenous Fistula ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:10541235|REF_RGD_ID:8655590 11982785 FGF2 fibroblast growth factor 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19014962 11982785 FGF2 fibroblast growth factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:10792180|REF_RGD_ID:8655613 11982785 FGF2 fibroblast growth factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2609 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor PMID:12663474|REF_RGD_ID:2315880 11982785 FGF2 fibroblast growth factor 2 gene DOID:9005749 Necrosis treatment ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Ischemia PMID:22924373|REF_RGD_ID:8655615 11982785 FGF2 fibroblast growth factor 2 gene DOID:9006447 Eye Injuries ISO RGD:2609 D RGD:9068941 20200609 RGD protein:increased expression:lens PMID:15273655|REF_RGD_ID:8655664 11982785 FGF2 fibroblast growth factor 2 gene DOID:9006447 Eye Injuries ISO RGD:70823 D RGD:9068941 20200609 RGD PMID:15273655|REF_RGD_ID:8655664 11982785 FGF2 fibroblast growth factor 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12173832|PMID:14583313 11982785 FGF2 fibroblast growth factor 2 gene DOID:9007402 Gliosis ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21087489 11982785 FGF2 fibroblast growth factor 2 gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:70822 D RGD:9068941 20210604 RGD human protein in mouse model PMID:26617350|REF_RGD_ID:126928152 11982785 FGF2 fibroblast growth factor 2 gene DOID:9008091 Optic Nerve Injuries treatment ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:14664816|REF_RGD_ID:8554854 11982785 FGF2 fibroblast growth factor 2 gene DOID:9008763 Femoral Fractures ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:11704499|REF_RGD_ID:11567258 11982785 FGF2 fibroblast growth factor 2 gene DOID:9008861 Wound Infection ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:16008728|REF_RGD_ID:2315863 11982785 FGF2 fibroblast growth factor 2 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10646786 11982785 FGF2 fibroblast growth factor 2 gene DOID:9296 cleft lip ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 11982785 FGF2 fibroblast growth factor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:70822 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18279437|REF_RGD_ID:2315844 11982785 FGF2 fibroblast growth factor 2 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Retinal Detachment PMID:9613386|REF_RGD_ID:8655597 11982785 FGF2 fibroblast growth factor 2 gene DOID:9741 biliary tract disease ISO RGD:70822 D RGD:9068941 20200609 RGD protein:increased expression:bile PMID:11478488|REF_RGD_ID:2317765 11982785 FGF2 fibroblast growth factor 2 gene DOID:9743 diabetic neuropathy ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16644707|REF_RGD_ID:2315860 11982785 FGF2 fibroblast growth factor 2 gene DOID:9810 polyarteritis nodosa ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:15965421|REF_RGD_ID:8655581 11982792 LAMC1 laminin subunit gamma 1 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1318553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 11982792 LAMC1 laminin subunit gamma 1 gene DOID:0080600 COVID-19 ISO RGD:1318553 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11982792 LAMC1 laminin subunit gamma 1 gene DOID:14323 Marfan syndrome ISO RGD:1318553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 11982792 LAMC1 laminin subunit gamma 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1318553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11982792 LAMC1 laminin subunit gamma 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1318553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 11982792 LAMC1 laminin subunit gamma 1 gene DOID:520 aortic disease ISO RGD:1318553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 11982792 LAMC1 laminin subunit gamma 1 gene DOID:630 genetic disease ISO RGD:1318553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982792 LAMC1 laminin subunit gamma 1 gene DOID:9000165 Neuromuscular Manifestations ISO RGD:1318553 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:30476904 11982792 LAMC1 laminin subunit gamma 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 11982792 LAMC1 laminin subunit gamma 1 gene DOID:9002955 Nerve Degeneration ISO RGD:1318553 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:30476904 11982792 LAMC1 laminin subunit gamma 1 gene DOID:9007402 Gliosis ISO RGD:1318553 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:30476904 11982792 LAMC1 laminin subunit gamma 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1318553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11982792 LAMC1 laminin subunit gamma 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11982824 ADGRL4 adhesion G protein-coupled receptor L4 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1347532 D RGD:9068941 20200609 RGD protein:decreased expression:heart: PMID:22606234|REF_RGD_ID:13838662 11982824 ADGRL4 adhesion G protein-coupled receptor L4 gene DOID:3068 glioblastoma severity ISO RGD:1347532 D RGD:9068941 20200609 RGD PMID:23096411|REF_RGD_ID:13838665 11982824 ADGRL4 adhesion G protein-coupled receptor L4 gene DOID:3068 glioblastoma severity ISO RGD:621136 D RGD:9068941 20200609 RGD PMID:23096411|REF_RGD_ID:13838665 11982824 ADGRL4 adhesion G protein-coupled receptor L4 gene DOID:3068 glioblastoma treatment ISO RGD:732484 D RGD:9068941 20200609 RGD PMID:27416955|REF_RGD_ID:13838664 11982824 ADGRL4 adhesion G protein-coupled receptor L4 gene DOID:630 genetic disease ISO RGD:1347532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982824 ADGRL4 adhesion G protein-coupled receptor L4 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:732484 D RGD:9068941 20200609 RGD PMID:22606234|REF_RGD_ID:13838662 11982844 TCEAL6 transcription elongation factor A like 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11982844 TCEAL6 transcription elongation factor A like 6 gene DOID:12849 autistic disorder ISO RGD:1606134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11982850 DENND3 DENN domain containing 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1605083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 11982850 DENND3 DENN domain containing 3 gene DOID:630 genetic disease ISO RGD:1605083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982907 AREG amphiregulin gene DOID:0060074 ductal carcinoma in situ ISO RGD:1345760 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:8543395|REF_RGD_ID:2292664 11982907 AREG amphiregulin gene DOID:0080600 COVID-19 ISO RGD:1345760 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11982907 AREG amphiregulin gene DOID:11054 urinary bladder cancer ISO RGD:736382 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:11133810|REF_RGD_ID:2292662 11982907 AREG amphiregulin gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1345760 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:11507076|REF_RGD_ID:2292661 11982907 AREG amphiregulin gene DOID:13270 erythropoietic protoporphyria ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19267999 11982907 AREG amphiregulin gene DOID:1612 breast cancer ISO RGD:1345760 D RGD:9068941 20200609 RGD PMID:16438846|REF_RGD_ID:2292658 11982907 AREG amphiregulin gene DOID:1749 squamous cell carcinoma ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11237771 11982907 AREG amphiregulin gene DOID:2671 transitional cell carcinoma ISO RGD:1345760 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:16469638|REF_RGD_ID:2289980 11982907 AREG amphiregulin gene DOID:2841 asthma ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15696081 11982907 AREG amphiregulin gene DOID:289 endometriosis ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11982907 AREG amphiregulin gene DOID:3008 invasive ductal carcinoma ISO RGD:1345760 D RGD:9068941 20200609 RGD PMID:11523048|REF_RGD_ID:2292660 11982907 AREG amphiregulin gene DOID:3070 high grade glioma ISO RGD:2149 D RGD:9068941 20200609 RGD PMID:8621257|REF_RGD_ID:2292668 11982907 AREG amphiregulin gene DOID:3770 pulmonary fibrosis ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26817844 11982907 AREG amphiregulin gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496427|PMID:16230376 11982907 AREG amphiregulin gene DOID:630 genetic disease ISO RGD:1345760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982907 AREG amphiregulin gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11982907 AREG amphiregulin gene DOID:8634 prostate carcinoma in situ ISO RGD:1345760 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:14716741|REF_RGD_ID:2292659 11982907 AREG amphiregulin gene DOID:9000217 Stomach Neoplasms ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15723263|PMID:15940630|PMID:16367923 11982907 AREG amphiregulin gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:2149 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:18421211|REF_RGD_ID:2292665 11982907 AREG amphiregulin gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1345760 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11982907 AREG amphiregulin gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345760 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:14716741|REF_RGD_ID:2292659 11982907 AREG amphiregulin gene DOID:9002762 Ovarian Neoplasms ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15313392 11982907 AREG amphiregulin gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1345760 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:endometrium PMID:16962163|REF_RGD_ID:2289950 11982907 AREG amphiregulin gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2149 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:18421211|REF_RGD_ID:2292665 11982907 AREG amphiregulin gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736382 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland PMID:10225449|REF_RGD_ID:2292663 11982907 AREG amphiregulin gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342401 11982907 AREG amphiregulin gene DOID:9007102 Myocardial Ischemia ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11982907 AREG amphiregulin gene DOID:9008939 Breast Neoplasms ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11237771 11982917 SERPINA7 serpin family A member 7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11982917 SERPINA7 serpin family A member 7 gene DOID:12849 autistic disorder ISO RGD:1351148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11982917 SERPINA7 serpin family A member 7 gene DOID:1459 hypothyroidism ISO RGD:619833 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:2106883|REF_RGD_ID:1600137 11982917 SERPINA7 serpin family A member 7 gene DOID:1837 diabetic ketoacidosis ISO RGD:1351148 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:6768790|REF_RGD_ID:2312332 11982917 SERPINA7 serpin family A member 7 gene DOID:630 genetic disease ISO RGD:1351148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982917 SERPINA7 serpin family A member 7 gene DOID:655 inherited metabolic disorder ISO RGD:1351148 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2155256 11982917 SERPINA7 serpin family A member 7 gene DOID:7998 hyperthyroidism ISO RGD:619833 D RGD:9068941 20200609 RGD protein:decreased expression:serum (rat) PMID:2505856|REF_RGD_ID:1600139 11982917 SERPINA7 serpin family A member 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351148 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11982917 SERPINA7 serpin family A member 7 gene DOID:9001797 Inherited Thyroxine-Binding Globulin Deficiency ISO RGD:1351148 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Thyroxine-binding globulin, variant P PMID:18407078|PMID:1901689|PMID:2155256|PMID:2495303|PMID:33554479 11982917 SERPINA7 serpin family A member 7 gene DOID:9005007 Thyroxine-Binding Globulin Deficiency ISO RGD:1351148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroxine-binding globulin deficiency | ClinVar Annotator: match by term: Thyroxine-binding globulin deficiency, partial PMID:1901689|PMID:2155256|PMID:2495303|PMID:25741868|PMID:28492532|PMID:3093522 11982917 SERPINA7 serpin family A member 7 gene DOID:9351 diabetes mellitus ISO RGD:1351148 D RGD:9068941 20200609 RGD PMID:8742570|REF_RGD_ID:2312329 11982917 SERPINA7 serpin family A member 7 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1351148 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:1867879|REF_RGD_ID:2312330 11982931 LOC100975002 zinc finger protein 155 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1352629 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 11982931 LOC100975002 zinc finger protein 155 gene DOID:5419 schizophrenia ISO RGD:1352629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11982931 LOC100975002 zinc finger protein 155 gene DOID:630 genetic disease ISO RGD:1352629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982963 SORBS3 sorbin and SH3 domain containing 3 gene DOID:630 genetic disease ISO RGD:1604395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11982963 SORBS3 sorbin and SH3 domain containing 3 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1604395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 11983006 SLC25A40 solute carrier family 25 member 40 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1607018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11983006 SLC25A40 solute carrier family 25 member 40 gene DOID:630 genetic disease ISO RGD:1607018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983029 ZNF609 zinc finger protein 609 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1349333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11983029 ZNF609 zinc finger protein 609 gene DOID:11054 urinary bladder cancer ISO RGD:1349333 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35567596 11983029 ZNF609 zinc finger protein 609 gene DOID:2717 Bloom syndrome ISO RGD:1349333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11983029 ZNF609 zinc finger protein 609 gene DOID:630 genetic disease ISO RGD:1349333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983029 ZNF609 zinc finger protein 609 gene DOID:9256 colorectal cancer ISO RGD:1349333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11983043 CLK3 CDC like kinase 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:733625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11983043 CLK3 CDC like kinase 3 gene DOID:2717 Bloom syndrome ISO RGD:733625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11983043 CLK3 CDC like kinase 3 gene DOID:5419 schizophrenia ISO RGD:733625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11983043 CLK3 CDC like kinase 3 gene DOID:630 genetic disease ISO RGD:733625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983043 CLK3 CDC like kinase 3 gene DOID:9256 colorectal cancer ISO RGD:733625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11983059 EIF5B eukaryotic translation initiation factor 5B gene DOID:630 genetic disease ISO RGD:1353401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983087 CCDC159 coiled-coil domain containing 159 gene DOID:0050990 episodic ataxia type 2 ISO RGD:3566767 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11983087 CCDC159 coiled-coil domain containing 159 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:3566767 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11983087 CCDC159 coiled-coil domain containing 159 gene DOID:0111254 glutaric acidemia I ISO RGD:3566767 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11983087 CCDC159 coiled-coil domain containing 159 gene DOID:3413 alpha-mannosidosis ISO RGD:3566767 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11983087 CCDC159 coiled-coil domain containing 159 gene DOID:630 genetic disease ISO RGD:3566767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983132 ZNF474 zinc finger protein 474 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606968 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11983132 ZNF474 zinc finger protein 474 gene DOID:630 genetic disease ISO RGD:1606968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983132 ZNF474 zinc finger protein 474 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11983132 ZNF474 zinc finger protein 474 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606968 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11983137 RMDN3 regulator of microtubule dynamics 3 gene DOID:2717 Bloom syndrome ISO RGD:1602700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11983137 RMDN3 regulator of microtubule dynamics 3 gene DOID:630 genetic disease ISO RGD:1602700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983137 RMDN3 regulator of microtubule dynamics 3 gene DOID:9256 colorectal cancer ISO RGD:1602700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11983154 SLC24A4 solute carrier family 24 member 4 gene DOID:0080054 achondrogenesis type IA ISO RGD:1314247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 11983154 SLC24A4 solute carrier family 24 member 4 gene DOID:0110063 amelogenesis imperfecta hypomaturation type 2A5 ISO RGD:1314247 D RGD:7240710 20180130 OMIM 11983154 SLC24A4 solute carrier family 24 member 4 gene DOID:0110063 amelogenesis imperfecta hypomaturation type 2A5 ISO RGD:1314247 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A5 PMID:23375655|PMID:24621671|PMID:25741868 11983154 SLC24A4 solute carrier family 24 member 4 gene DOID:2187 amelogenesis imperfecta ISO RGD:1314247 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta 11983154 SLC24A4 solute carrier family 24 member 4 gene DOID:630 genetic disease ISO RGD:1314247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983154 SLC24A4 solute carrier family 24 member 4 gene DOID:9004829 Skin/Hair/Eye Pigmentation, Variation In, 6 ISO RGD:1314247 D RGD:7240710 20221130 OMIM 11983154 SLC24A4 solute carrier family 24 member 4 gene DOID:9004829 Skin/Hair/Eye Pigmentation, Variation In, 6 ISO RGD:1314247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 6, BLOND/BROWN HAIR PMID:17952075 11983192 GHITM growth hormone inducible transmembrane protein gene DOID:630 genetic disease ISO RGD:1345873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983205 INKA2 inka box actin regulator 2 gene DOID:630 genetic disease ISO RGD:1603392 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983217 USP50 ubiquitin specific peptidase 50 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1343119 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28492532 11983217 USP50 ubiquitin specific peptidase 50 gene DOID:2717 Bloom syndrome ISO RGD:1343119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11983217 USP50 ubiquitin specific peptidase 50 gene DOID:630 genetic disease ISO RGD:1343119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983217 USP50 ubiquitin specific peptidase 50 gene DOID:9256 colorectal cancer ISO RGD:1343119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11983228 PITPNM3 PITPNM family member 3 gene DOID:0050572 cone-rod dystrophy ISO RGD:1317841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant PMID:28492532 11983228 PITPNM3 PITPNM family member 3 gene DOID:0050795 cone dystrophy ISO RGD:1317841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:25741868 11983228 PITPNM3 PITPNM family member 3 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1317841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 11983228 PITPNM3 PITPNM family member 3 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1317841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:28492532 11983228 PITPNM3 PITPNM family member 3 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1317841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 11983228 PITPNM3 PITPNM family member 3 gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:1317841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 11983228 PITPNM3 PITPNM family member 3 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1317841 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11983228 PITPNM3 PITPNM family member 3 gene DOID:0111010 cone-rod dystrophy 5 ISO RGD:1317841 D RGD:7240710 20180130 OMIM 11983228 PITPNM3 PITPNM family member 3 gene DOID:0111010 cone-rod dystrophy 5 ISO RGD:1317841 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 5 PMID:17377520|PMID:22405330|PMID:25472526|PMID:25741868|PMID:27160483|PMID:28492532|PMID:30718709|PMID:8586428 11983228 PITPNM3 PITPNM family member 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1317841 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17377520|PMID:22405330|PMID:25472526|PMID:25741868|PMID:27160483|PMID:28492532|PMID:30718709|PMID:8586428 11983228 PITPNM3 PITPNM family member 3 gene DOID:630 genetic disease ISO RGD:1317841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11983228 PITPNM3 PITPNM family member 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1317841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11983228 PITPNM3 PITPNM family member 3 gene DOID:8501 fundus dystrophy ISO RGD:1317841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 11983251 ITPRIPL2 ITPRIP like 2 gene DOID:630 genetic disease ISO RGD:1604732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983256 SIGLEC6 sialic acid binding Ig like lectin 6 gene DOID:10283 prostate cancer ISO RGD:1348004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11983256 SIGLEC6 sialic acid binding Ig like lectin 6 gene DOID:630 genetic disease ISO RGD:1348004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983256 SIGLEC6 sialic acid binding Ig like lectin 6 gene DOID:9074 systemic lupus erythematosus ISO RGD:1348004 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26808113 11983278 ID2 inhibitor of DNA binding 2 gene DOID:37 skin disease ISO RGD:732001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11983278 ID2 inhibitor of DNA binding 2 gene DOID:50 thyroid gland disease ISO RGD:732001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 11983278 ID2 inhibitor of DNA binding 2 gene DOID:5409 lung small cell carcinoma ISO RGD:732001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23582323 11983278 ID2 inhibitor of DNA binding 2 gene DOID:630 genetic disease ISO RGD:732001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983278 ID2 inhibitor of DNA binding 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2859 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord (rat) PMID:11746449|REF_RGD_ID:9686138 11983278 ID2 inhibitor of DNA binding 2 gene DOID:9000352 Vascular System Injuries ISO RGD:2859 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery, blood vessel wall (rat) PMID:11706002|REF_RGD_ID:619536 11983278 ID2 inhibitor of DNA binding 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732001 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17127702 11983278 ID2 inhibitor of DNA binding 2 gene DOID:9007964 Arsenic Poisoning ISO RGD:732001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11983278 ID2 inhibitor of DNA binding 2 gene DOID:9119 acute myeloid leukemia ISO RGD:732001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11983288 TTYH1 tweety family member 1 gene DOID:630 genetic disease ISO RGD:1320816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983306 AHCYL2 adenosylhomocysteinase like 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11983306 AHCYL2 adenosylhomocysteinase like 2 gene DOID:630 genetic disease ISO RGD:1601771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983306 AHCYL2 adenosylhomocysteinase like 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1601771 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 11983336 AKAP5 A-kinase anchoring protein 5 gene DOID:0080600 COVID-19 ISO RGD:1345297 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11983336 AKAP5 A-kinase anchoring protein 5 gene DOID:10652 Alzheimer's disease ISO RGD:1345297 D RGD:9068941 20200609 RGD protein:increased expression:cell soma, dendritic arbor (human) PMID:10460255|REF_RGD_ID:2313287 11983336 AKAP5 A-kinase anchoring protein 5 gene DOID:630 genetic disease ISO RGD:1345297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983336 AKAP5 A-kinase anchoring protein 5 gene DOID:9003936 Cardiomegaly ISO RGD:1345297 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11248077 11983336 AKAP5 A-kinase anchoring protein 5 gene DOID:9003936 Cardiomegaly ISO RGD:1345297 D RGD:9068941 20200609 RGD human gene, mouse model PMID:11248077|REF_RGD_ID:2313290 11983336 AKAP5 A-kinase anchoring protein 5 gene DOID:9008023 Memory Disorders ISO RGD:1345297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711127 11983336 AKAP5 A-kinase anchoring protein 5 gene DOID:9008449 Tetany ISO RGD:620829 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus (rat) PMID:12542670|REF_RGD_ID:2313247 11983336 AKAP5 A-kinase anchoring protein 5 gene DOID:9923 developmental coordination disorder ISO RGD:1345297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711127 11983342 CNPY1 canopy FGF signaling regulator 1 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1603862 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:23370340|PMID:24095820|PMID:28492532|PMID:29992659|PMID:31334757 11983342 CNPY1 canopy FGF signaling regulator 1 gene DOID:12849 autistic disorder ISO RGD:1603862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11983342 CNPY1 canopy FGF signaling regulator 1 gene DOID:630 genetic disease ISO RGD:1603862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983361 GRM5 glutamate metabotropic receptor 5 gene DOID:0060041 autism spectrum disorder ISO RGD:730960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11983361 GRM5 glutamate metabotropic receptor 5 gene DOID:1059 intellectual disability ISO RGD:730960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11983361 GRM5 glutamate metabotropic receptor 5 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:730960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19546859|PMID:22138692 11983361 GRM5 glutamate metabotropic receptor 5 gene DOID:12858 Huntington's disease disease_progression ISO RGD:736778 D RGD:9068941 20200609 RGD PMID:15306259|REF_RGD_ID:13432562 11983361 GRM5 glutamate metabotropic receptor 5 gene DOID:12858 Huntington's disease treatment ISO RGD:736778 D RGD:9068941 20200609 RGD PMID:23489026|PMID:24282028|PMID:25160573|REF_RGD_ID:13432158|REF_RGD_ID:13432558|REF_RGD_ID:13432561 11983361 GRM5 glutamate metabotropic receptor 5 gene DOID:1824 status epilepticus ISO RGD:730960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17634364|PMID:18774262 11983361 GRM5 glutamate metabotropic receptor 5 gene DOID:303 substance-related disorder ISO RGD:730960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11983361 GRM5 glutamate metabotropic receptor 5 gene DOID:3328 temporal lobe epilepsy ISO RGD:730960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15694259 11983361 GRM5 glutamate metabotropic receptor 5 gene DOID:5419 schizophrenia ISO RGD:736778 D RGD:9068941 20220825 MouseDO OMIM:181500 11983361 GRM5 glutamate metabotropic receptor 5 gene DOID:630 genetic disease ISO RGD:730960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983361 GRM5 glutamate metabotropic receptor 5 gene DOID:9001957 Keratosis Palmoplantaris with Periodontopathia and Onychogryposis ISO RGD:730960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Haim-Munk syndrome PMID:28492532 11983361 GRM5 glutamate metabotropic receptor 5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20826661 11983361 GRM5 glutamate metabotropic receptor 5 gene DOID:9005968 Neuralgia ISO RGD:730960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19840219 11983361 GRM5 glutamate metabotropic receptor 5 gene DOID:9743 diabetic neuropathy ISO RGD:730960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19840219 11983389 NRROS negative regulator of reactive oxygen species gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1602040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 11983389 NRROS negative regulator of reactive oxygen species gene DOID:0111444 progressive myoclonus epilepsy 4 ISO RGD:1602040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome PMID:25741868 11983389 NRROS negative regulator of reactive oxygen species gene DOID:12849 autistic disorder ISO RGD:1602040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11983389 NRROS negative regulator of reactive oxygen species gene DOID:5419 schizophrenia ISO RGD:1602040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11983389 NRROS negative regulator of reactive oxygen species gene DOID:630 genetic disease ISO RGD:1602040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11983389 NRROS negative regulator of reactive oxygen species gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11983389 NRROS negative regulator of reactive oxygen species gene DOID:9006016 SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS ISO RGD:1602040 D RGD:7240710 20200819 OMIM 11983389 NRROS negative regulator of reactive oxygen species gene DOID:9006016 SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS ISO RGD:1602040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizures, early-onset, with neurodegeneration and brain calcifications PMID:25741868|PMID:28492532|PMID:32100099|PMID:32197075 11983400 ZNF740 zinc finger protein 740 gene DOID:630 genetic disease ISO RGD:1603524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983414 TPCN1 two pore segment channel 1 gene DOID:14228 oligospermia ISO RGD:1344084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24451262 11983414 TPCN1 two pore segment channel 1 gene DOID:630 genetic disease ISO RGD:1344084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983457 TRIML2 tripartite motif family like 2 gene DOID:12849 autistic disorder ISO RGD:1602827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11983457 TRIML2 tripartite motif family like 2 gene DOID:2229 factor XI deficiency ISO RGD:1602827 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:34355501 11983457 TRIML2 tripartite motif family like 2 gene DOID:630 genetic disease ISO RGD:1602827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983457 TRIML2 tripartite motif family like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11983476 LOC100991966 uncharacterized LOC100991966 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1603140 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 11983482 ROM1 retinal outer segment membrane protein 1 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1314474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:20335603|PMID:28492532 11983482 ROM1 retinal outer segment membrane protein 1 gene DOID:0110383 retinitis pigmentosa 7 ISO RGD:1314474 D RGD:7240710 20180130 OMIM 11983482 ROM1 retinal outer segment membrane protein 1 gene DOID:0110383 retinitis pigmentosa 7 ISO RGD:1314474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 7 | ClinVar Annotator: match by term: Retinitis pigmentosa 7, digenic PMID:16799052|PMID:25741868|PMID:28492532|PMID:7904211|PMID:8202715 11983482 ROM1 retinal outer segment membrane protein 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1314474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11983482 ROM1 retinal outer segment membrane protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1314474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16799052|PMID:20335603|PMID:24265693|PMID:24938718|PMID:25741868|PMID:28492532|PMID:7904211|PMID:8202715|PMID:8595413|PMID:9187681|PMID:9331261 11983482 ROM1 retinal outer segment membrane protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1314474 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16799052|PMID:20335603|PMID:24265693|PMID:24938718|PMID:25741868|PMID:28492532|PMID:33688152|PMID:7904211|PMID:8202715|PMID:8595413|PMID:9187681|PMID:9331261 11983482 ROM1 retinal outer segment membrane protein 1 gene DOID:1059 intellectual disability ISO RGD:1314474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11983482 ROM1 retinal outer segment membrane protein 1 gene DOID:4448 macular degeneration ISO RGD:1314474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:28492532|PMID:30718709 11983482 ROM1 retinal outer segment membrane protein 1 gene DOID:630 genetic disease ISO RGD:1314474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11983482 ROM1 retinal outer segment membrane protein 1 gene DOID:8466 retinal degeneration ISO RGD:1314475 D RGD:9068941 20200609 RGD PMID:10802659|REF_RGD_ID:8553197 11983482 ROM1 retinal outer segment membrane protein 1 gene DOID:8501 fundus dystrophy ISO RGD:1314474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532|PMID:30718709|PMID:8595413 11983489 VIM vimentin gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 11983489 VIM vimentin gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:733128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 11983489 VIM vimentin gene DOID:0080600 COVID-19 ISO RGD:733128 D RGD:9068941 20200709 RGD mRNA:decreased expression:antibody secreting B cells (human) PMID:32377375|REF_RGD_ID:32716422 11983489 VIM vimentin gene DOID:0110248 cataract 30 ISO RGD:733128 D RGD:7240710 20180130 OMIM 11983489 VIM vimentin gene DOID:0110248 cataract 30 ISO RGD:733128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CATARACT 30, PULVERULENT | ClinVar Annotator: match by term: Cataract 30 PMID:19126778|PMID:25741868|PMID:26694549|PMID:28450710|PMID:28492532 11983489 VIM vimentin gene DOID:10652 Alzheimer's disease ISO RGD:733128 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19728994|REF_RGD_ID:6480519 11983489 VIM vimentin gene DOID:10652 Alzheimer's disease ISO RGD:733129 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19728994|REF_RGD_ID:6480519 11983489 VIM vimentin gene DOID:12140 Chagas disease ISO RGD:621646 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22199233|REF_RGD_ID:6480538 11983489 VIM vimentin gene DOID:12140 Chagas disease severity ISO RGD:733128 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22199233|REF_RGD_ID:6480538 11983489 VIM vimentin gene DOID:1289 neurodegenerative disease ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16831193 11983489 VIM vimentin gene DOID:12894 Sjogren's syndrome ISO RGD:733128 D RGD:9068941 20200609 RGD PMID:6352937|REF_RGD_ID:6480477 11983489 VIM vimentin gene DOID:13241 Behcet's disease ISO RGD:733128 D RGD:9068941 20200609 RGD PMID:3780056|REF_RGD_ID:6480476 11983489 VIM vimentin gene DOID:1790 malignant mesothelioma ISO RGD:733128 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 11983489 VIM vimentin gene DOID:1936 atherosclerosis ISO RGD:733128 D RGD:9068941 20200609 RGD associated with arthritis,rheumatoid PMID:21362765|REF_RGD_ID:6480618 11983489 VIM vimentin gene DOID:231 motor neuron disease ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16831193 11983489 VIM vimentin gene DOID:2527 nephrosis ISO RGD:621646 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:podocyte PMID:16418842|REF_RGD_ID:6480447 11983489 VIM vimentin gene DOID:2527 nephrosis ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16418842 11983489 VIM vimentin gene DOID:2945 severe acute respiratory syndrome ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26801988 11983489 VIM vimentin gene DOID:3393 coronary artery disease ISO RGD:733128 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:21938407|REF_RGD_ID:6480617 11983489 VIM vimentin gene DOID:3526 cerebral infarction ISO RGD:621646 D RGD:9068941 20200609 RGD PMID:18802758|REF_RGD_ID:6480442 11983489 VIM vimentin gene DOID:4236 carcinosarcoma ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15132766 11983489 VIM vimentin gene DOID:5082 liver cirrhosis ISO RGD:733128 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:25226513|PMID:26396155|PMID:32659284 11983489 VIM vimentin gene DOID:5485 synovial sarcoma ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15043115 11983489 VIM vimentin gene DOID:557 kidney disease ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31697999 11983489 VIM vimentin gene DOID:5679 retinal disease ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 11983489 VIM vimentin gene DOID:630 genetic disease ISO RGD:733128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983489 VIM vimentin gene DOID:6432 pulmonary hypertension ISO RGD:621646 D RGD:9068941 20200924 RGD protein:increased expression, increased phosphorylation:lung PMID:25593290|REF_RGD_ID:38500244 11983489 VIM vimentin gene DOID:7148 rheumatoid arthritis ISO RGD:733128 D RGD:9068941 20200609 RGD PMID:21792832|REF_RGD_ID:6480508 11983489 VIM vimentin gene DOID:799 varicose veins ISO RGD:733128 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:vein: PMID:26808710|REF_RGD_ID:11529441 11983489 VIM vimentin gene DOID:7998 hyperthyroidism ISO RGD:621646 D RGD:9068941 20200609 RGD protein:increased expression, hyperphosphorylation:testis PMID:17306450|REF_RGD_ID:6480446 11983489 VIM vimentin gene DOID:83 cataract ISO RGD:733128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:26694549 11983489 VIM vimentin gene DOID:8398 osteoarthritis ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16876394|PMID:18784066 11983489 VIM vimentin gene DOID:9000039 Spinal Cord Injuries ISO RGD:621646 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:21250919|REF_RGD_ID:6480511 11983489 VIM vimentin gene DOID:9000039 Spinal Cord Injuries ISO RGD:733129 D RGD:9068941 20200609 RGD PMID:10225952|REF_RGD_ID:6480471 11983489 VIM vimentin gene DOID:9000784 Fibrosis ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31697999 11983489 VIM vimentin gene DOID:9000965 Neoplasm Metastasis ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 11983489 VIM vimentin gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:733128 D RGD:9068941 20220616 RGD associated with stomach cancer; human cells in mouse model PMID:27431311|REF_RGD_ID:152995400 11983489 VIM vimentin gene DOID:9000972 Fever ISO RGD:621646 D RGD:9068941 20200609 RGD protein:increased expression:glial cell PMID:12834255|REF_RGD_ID:1304397 11983489 VIM vimentin gene DOID:9000998 Brain Injuries ISO RGD:621646 D RGD:9068941 20200609 RGD PMID:15527750|REF_RGD_ID:6480527 11983489 VIM vimentin gene DOID:9000998 Brain Injuries ISO RGD:733129 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19728994|REF_RGD_ID:6480519 11983489 VIM vimentin gene DOID:9001036 Penetrating Head Injuries ISO RGD:733129 D RGD:9068941 20200609 RGD PMID:10225952|REF_RGD_ID:6480471 11983489 VIM vimentin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621646 D RGD:9068941 20220520 RGD associated with Schistosomiasis Japonica; mRNA:increased expression:liver (rat) PMID:29323718|REF_RGD_ID:38599216 11983489 VIM vimentin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11983489 VIM vimentin gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:621646 D RGD:9068941 20200609 RGD PMID:19199359|REF_RGD_ID:6480440 11983489 VIM vimentin gene DOID:9001686 Acute Coronary Syndrome ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 11983489 VIM vimentin gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:733128 D RGD:9068941 20200924 RGD protein:increased phosphorylation:lung PMID:25593290|REF_RGD_ID:38500244 11983489 VIM vimentin gene DOID:9001834 Peritoneal Neoplasms ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 11983489 VIM vimentin gene DOID:9002304 Prostatic Neoplasms ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566973|PMID:24763052 11983489 VIM vimentin gene DOID:9002457 Experimental Arthritis ISO RGD:621646 D RGD:9068941 20200609 RGD PMID:7516431|REF_RGD_ID:6480480 11983489 VIM vimentin gene DOID:9003919 Urination Disorders ISO RGD:621646 D RGD:9068941 20200609 RGD associated with spinal cord injuries PMID:21250919|REF_RGD_ID:6480511 11983489 VIM vimentin gene DOID:9004009 Reperfusion Injury ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 11983489 VIM vimentin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 11983489 VIM vimentin gene DOID:9004657 Weight Gain ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11983489 VIM vimentin gene DOID:9004771 Vascular Remodeling ISO RGD:621646 D RGD:9068941 20200924 RGD protein:increased phosphorylation:lung PMID:25593290|REF_RGD_ID:38500244 11983489 VIM vimentin gene DOID:9006008 Closed Head Injuries ISO RGD:621646 D RGD:9068941 20200609 RGD PMID:8833197|REF_RGD_ID:6480531 11983489 VIM vimentin gene DOID:9006205 Animal Disease Models ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16831193 11983489 VIM vimentin gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:733128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532 11983489 VIM vimentin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 11983489 VIM vimentin gene DOID:9007402 Gliosis ISO RGD:621646 D RGD:9068941 20200609 RGD associated with alcohol-induced disorders, nervous system;protein:increased expression:astrocyte PMID:21958862|REF_RGD_ID:6480622 11983489 VIM vimentin gene DOID:9007402 Gliosis ISO RGD:621646 D RGD:9068941 20200609 RGD associated with head injuries, penetrating PMID:15684657|REF_RGD_ID:6480626 11983489 VIM vimentin gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 11983489 VIM vimentin gene DOID:9008939 Breast Neoplasms ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21501481|PMID:24014025|PMID:25330770|PMID:27811057 11983489 VIM vimentin gene DOID:9074 systemic lupus erythematosus ISO RGD:733128 D RGD:9068941 20200609 RGD PMID:3780056|REF_RGD_ID:6480476 11983489 VIM vimentin gene DOID:9351 diabetes mellitus ISO RGD:733128 D RGD:9068941 20220527 RGD associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:increased expression:lung (human) PMID:27411924|REF_RGD_ID:152975631 11983502 NAGS N-acetylglutamate synthase gene DOID:0112258 N-acetylglutamate synthase deficiency ISO RGD:1349520 D RGD:7240710 20180130 OMIM 11983502 NAGS N-acetylglutamate synthase gene DOID:10485 esophageal atresia ISO RGD:1349520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 11983502 NAGS N-acetylglutamate synthase gene DOID:630 genetic disease ISO RGD:1349520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12594532|PMID:15050968|PMID:15714518|PMID:16199547|PMID:17421020|PMID:25741868|PMID:27570737|PMID:28492532 11983502 NAGS N-acetylglutamate synthase gene DOID:9008972 Hyperammonemia ISO RGD:1349520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperammonemia, type III PMID:12594532|PMID:12754705|PMID:15050968|PMID:15714518|PMID:15858972|PMID:15878741|PMID:16199547|PMID:17421020|PMID:23776373|PMID:23894642|PMID:24233332|PMID:25741868|PMID:27037498|PMID:27570737|PMID:28492532|PMID:32021803|PMID:9877039 11983502 NAGS N-acetylglutamate synthase gene DOID:9252 amino acid metabolic disorder ISO RGD:1349520 D RGD:9068941 20200609 RGD N-acetylglutamate synthase deficiency, OMIM:237310, DNA:frameshift:1025delG, point mutation:W324X PMID:12594532|REF_RGD_ID:1600560 11983521 ALPI alkaline phosphatase, intestinal gene DOID:0050589 inflammatory bowel disease ISO RGD:737157 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:29567797|REF_RGD_ID:14367877 11983521 ALPI alkaline phosphatase, intestinal gene DOID:0060476 Perlman syndrome ISO RGD:737157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11983521 ALPI alkaline phosphatase, intestinal gene DOID:0110991 Joubert syndrome 22 ISO RGD:737157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11983521 ALPI alkaline phosphatase, intestinal gene DOID:630 genetic disease ISO RGD:737157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983521 ALPI alkaline phosphatase, intestinal gene DOID:8577 ulcerative colitis ISO RGD:737157 D RGD:9068941 20200609 RGD protein:decreased expression:colonic mucosa PMID:22783049|REF_RGD_ID:14367879 11983521 ALPI alkaline phosphatase, intestinal gene DOID:8778 Crohn's disease ISO RGD:737157 D RGD:9068941 20200609 RGD protein:decreased expression:colonic mucosa PMID:22783049|REF_RGD_ID:14367879 11983521 ALPI alkaline phosphatase, intestinal gene DOID:9007204 Dysbiosis ISO RGD:2099 D RGD:9068941 20200609 RGD PMID:28985873|REF_RGD_ID:14367878 11983536 ZNF687 zinc finger protein 687 gene DOID:0080422 Dravet syndrome ISO RGD:1606250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 11983536 ZNF687 zinc finger protein 687 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11983536 ZNF687 zinc finger protein 687 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11983536 ZNF687 zinc finger protein 687 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11983536 ZNF687 zinc finger protein 687 gene DOID:1540 parathyroid carcinoma ISO RGD:1606250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11983536 ZNF687 zinc finger protein 687 gene DOID:5408 Paget's disease of bone ISO RGD:1606250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11983536 ZNF687 zinc finger protein 687 gene DOID:5812 MHC class II deficiency ISO RGD:1606250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11983536 ZNF687 zinc finger protein 687 gene DOID:630 genetic disease ISO RGD:1606250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11983536 ZNF687 zinc finger protein 687 gene DOID:9001120 Paget Disease of Bone 6 ISO RGD:1606250 D RGD:7240710 20190315 OMIM 11983536 ZNF687 zinc finger protein 687 gene DOID:9001120 Paget Disease of Bone 6 ISO RGD:1606250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paget disease of bone 6 PMID:15123951|PMID:22936311|PMID:25741868|PMID:26849110|PMID:28492532|PMID:29493781 11983536 ZNF687 zinc finger protein 687 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11983627 PPT1 palmitoyl-protein thioesterase 1 gene DOID:0050952 spastic ataxia ISO RGD:736552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:12382155|PMID:16759889|PMID:19302939|PMID:21990111|PMID:23374165|PMID:25741868|PMID:28492532|PMID:28878621 11983627 PPT1 palmitoyl-protein thioesterase 1 gene DOID:0080600 COVID-19 ISO RGD:736552 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11983627 PPT1 palmitoyl-protein thioesterase 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:736552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11983627 PPT1 palmitoyl-protein thioesterase 1 gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:736552 D RGD:7240710 20180130 OMIM 11983627 PPT1 palmitoyl-protein thioesterase 1 gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:736552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1 PMID:10191107|PMID:10191109|PMID:10477428|PMID:10649502|PMID:10679943|PMID:10781062|PMID:11001811|PMID:11073228|PMID:11332767|PMID:11440996|PMID:11506414|PMID:11520175|PMID:11589012|PMID:11727201|PMID:12125808|PMID:12382155|PMID:12796825|PMID:12855696|PMID:14997939|PMID:15464427|PMID:15965709|PMID:16199547|PMID:16644870|PMID:16759889|PMID:17044973|PMID:17261688|PMID:17565660|PMID:17576681|PMID:18414213|PMID:18704195|PMID:19302939|PMID:19440452|PMID:19793312|PMID:19793631|PMID:19941651|PMID:20301601|PMID:21228398|PMID:21499717|PMID:21704547|PMID:21990111|PMID:22387303|PMID:23374165|PMID:23539563|PMID:23772246|PMID:23857568|PMID:24033266|PMID:24082928|PMID:24997880|PMID:25205113|PMID:2538469|PMID:25525159|PMID:25574475|PMID:25640679|PMID:25741868|PMID:26075876|PMID:26275418|PMID:26467025|PMID:26510000|PMID:26707855|PMID:26795593|PMID:28492532|PMID:28559085|PMID:28878621|PMID:29631617|PMID:29655203|PMID:30378543|PMID:30541466|PMID:30842224|PMID:31741823|PMID:33547378|PMID:33561134|PMID:34114234|PMID:7637805|PMID:9425237|PMID:9536098|PMID:9571187|PMID:9664077|PMID:9733046|PMID:9793631 11983627 PPT1 palmitoyl-protein thioesterase 1 gene DOID:0110731 neuronal ceroid lipofuscinosis 3 ISO RGD:736553 D RGD:9068941 20220825 MouseDO OMIM:204200 11983627 PPT1 palmitoyl-protein thioesterase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:736552 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10191107|PMID:10477428|PMID:10649502|PMID:11073228|PMID:11440996|PMID:11520175|PMID:12796825|PMID:15464427|PMID:19302939|PMID:21499717|PMID:21990111|PMID:22387303|PMID:23374165|PMID:23539563|PMID:25741868|PMID:26510000|PMID:28492532|PMID:28559085|PMID:28878621|PMID:30541466|PMID:9425237|PMID:9664077|PMID:9733046 11983627 PPT1 palmitoyl-protein thioesterase 1 gene DOID:1059 intellectual disability ISO RGD:736552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:28492532 11983627 PPT1 palmitoyl-protein thioesterase 1 gene DOID:1059 intellectual disability ISO RGD:736552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:30541466 11983627 PPT1 palmitoyl-protein thioesterase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736552 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10191107|PMID:10477428|PMID:10649502|PMID:10679943|PMID:10781062|PMID:11001811|PMID:11073228|PMID:11332767|PMID:11440996|PMID:11506414|PMID:11589012|PMID:12382155|PMID:15965709|PMID:16199547|PMID:16644870|PMID:16759889|PMID:17044973|PMID:17261688|PMID:17565660|PMID:18704195|PMID:19302939|PMID:19793312|PMID:19941651|PMID:20301601|PMID:21228398|PMID:21499717|PMID:21990111|PMID:22387303|PMID:23374165|PMID:23539563|PMID:23772246|PMID:24082928|PMID:24997880|PMID:25205113|PMID:2538469|PMID:25525159|PMID:25574475|PMID:25741868|PMID:26467025|PMID:26707855|PMID:26795593|PMID:28492532|PMID:28878621|PMID:29631617|PMID:31741823|PMID:33561134|PMID:7637805|PMID:9425237|PMID:9571187|PMID:9664077|PMID:9733046|PMID:9793631 11983627 PPT1 palmitoyl-protein thioesterase 1 gene DOID:14566 disease of cellular proliferation ISO RGD:736552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30442709 11983627 PPT1 palmitoyl-protein thioesterase 1 gene DOID:1826 epilepsy ISO RGD:736552 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 11983627 PPT1 palmitoyl-protein thioesterase 1 gene DOID:3529 central core disease ISO RGD:736552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central core myopathy PMID:18414213|PMID:21990111|PMID:24033266|PMID:25741868|PMID:28492532 11983627 PPT1 palmitoyl-protein thioesterase 1 gene DOID:630 genetic disease ISO RGD:736552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10191107|PMID:10191109|PMID:10477428|PMID:10649502|PMID:10679943|PMID:10781062|PMID:11001811|PMID:11073228|PMID:11332767|PMID:11440996|PMID:11506414|PMID:11520175|PMID:12796825|PMID:12855696|PMID:15464427|PMID:15965709|PMID:17044973|PMID:17261688|PMID:17565660|PMID:17576681|PMID:18414213|PMID:19201763|PMID:19302939|PMID:19793312|PMID:19941651|PMID:20301601|PMID:21228398|PMID:21499717|PMID:21704547|PMID:21990111|PMID:22387303|PMID:23374165|PMID:23539563|PMID:23772246|PMID:24033266|PMID:24082928|PMID:24997880|PMID:25205113|PMID:2538469|PMID:25525159|PMID:25574475|PMID:25741868|PMID:26467025|PMID:26510000|PMID:26795593|PMID:28492532|PMID:28559085|PMID:28878621|PMID:29631617|PMID:30378543|PMID:30541466|PMID:33561134|PMID:7637805|PMID:9425237|PMID:9536098|PMID:9664077|PMID:9733046|PMID:9793631 11983627 PPT1 palmitoyl-protein thioesterase 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:736552 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive PMID:10649502|PMID:10679943|PMID:11440996|PMID:11506414|PMID:17261688|PMID:19793312|PMID:20301601|PMID:21228398|PMID:21990111|PMID:23539563|PMID:23772246|PMID:24082928|PMID:25205113|PMID:25525159|PMID:25574475|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9425237|PMID:9664077|PMID:9733046 11983627 PPT1 palmitoyl-protein thioesterase 1 gene DOID:9006534 Nervous System Malformations ISO RGD:736552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:21990111|PMID:25741868 11983627 PPT1 palmitoyl-protein thioesterase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:736552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:10477428|PMID:11440996|PMID:19302939|PMID:21499717|PMID:21990111|PMID:22387303|PMID:23374165|PMID:25741868|PMID:28492532|PMID:28878621|PMID:31741823|PMID:9664077 11983640 IDO2 indoleamine 2,3-dioxygenase 2 gene DOID:5082 liver cirrhosis ISO RGD:1602972 D RGD:9068941 20200910 CTD CTD Direct Evidence: marker/mechanism PMID:32289347 11983640 IDO2 indoleamine 2,3-dioxygenase 2 gene DOID:630 genetic disease ISO RGD:1602972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983640 IDO2 indoleamine 2,3-dioxygenase 2 gene DOID:9005930 Endotoxemia ISO RGD:1316595 D RGD:9068941 20201022 RGD PMID:24930766|REF_RGD_ID:39939032 11983640 IDO2 indoleamine 2,3-dioxygenase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1602972 D RGD:9068941 20200910 CTD CTD Direct Evidence: marker/mechanism PMID:32289347 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:0060180 colitis ISO RGD:1348941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colitis PMID:25741868|PMID:28492532 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:0060180 colitis severity ISO RGD:734236 D RGD:9068941 20200609 RGD protein:increased expression:T cells:constitutive expression of transgene increases severity PMID:17043423|REF_RGD_ID:5491188 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1348941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:11476 osteoporosis ISO RGD:734236 D RGD:9068941 20220825 MouseDO OMIM:166710 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:12556 acute kidney tubular necrosis ISO RGD:734236 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:9422398|REF_RGD_ID:7242901 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:13774 Addison's disease ISO RGD:1348941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18593762 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:13774 Addison's disease ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:rs8048002T>C PMID:18593762|REF_RGD_ID:5491177 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:2377 multiple sclerosis ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:c.1632G>C, rs4774 PMID:21653641|REF_RGD_ID:5491175 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:2377 multiple sclerosis no_association ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs3087456, no association in a German cohort PMID:16426246|REF_RGD_ID:5491189 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-168A>G PMID:15821736|REF_RGD_ID:1358146 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1348941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:399 tuberculosis susceptibility ISO RGD:734236 D RGD:9068941 20200609 RGD knockouts show increased susceptibility to infection by all available criteria including mycobacterial growth, lung damage and survival time PMID:12828554|REF_RGD_ID:5491205 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:5812 MHC class II deficiency ISO RGD:1348941 D RGD:7240710 20230510 OMIM 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:5812 MHC class II deficiency ISO RGD:1348941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bare lymphocyte syndrome type 2, complementation group A | ClinVar Annotator: match by term: MHC class II deficiency PMID:11704716|PMID:11862382|PMID:15897313|PMID:16199547|PMID:17576681|PMID:24033266|PMID:24044430|PMID:25741868|PMID:26271388|PMID:27484032|PMID:28492532|PMID:29095814|PMID:8402893|PMID:9099848|PMID:9536098 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:5812 MHC class II deficiency severity ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:mutation:CDS:c.1524T>C, p.L469P associated with mild or asymptomatic disease despite absence of MHC-II expression on immune cells PMID:11466404|REF_RGD_ID:5491200 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:5844 myocardial infarction no_association ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-168A>G PMID:17183695|REF_RGD_ID:5491201 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:5844 myocardial infarction susceptibility ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-168A>G PMID:15821736|REF_RGD_ID:1358146 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:630 genetic disease ISO RGD:1348941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:676 juvenile rheumatoid arthritis no_association ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs3087456, no association in a German cohort PMID:16426246|REF_RGD_ID:5491189 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:676 juvenile rheumatoid arthritis susceptibility ISO RGD:1348941 D RGD:9068941 20200814 RGD DNA:polymorphism:exon:1614G>C (human) PMID:17661914|REF_RGD_ID:5491187 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:7148 rheumatoid arthritis ISO RGD:1348941 D RGD:7240710 20230510 OMIM 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:7148 rheumatoid arthritis ISO RGD:1348941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis PMID:15821736|PMID:16849401|PMID:25741868|PMID:28492532 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:7148 rheumatoid arthritis no_association ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs3087456, no association in a German cohort PMID:16426246|REF_RGD_ID:5491189 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1348941 D RGD:9068941 20230511 RGD DNA:polymorphism:promoter:-168A>G PMID:15821736|REF_RGD_ID:1358146 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:820 myocarditis ISO RGD:734236 D RGD:9068941 20200609 RGD Experimental autoimmune myocarditis; mRNA:antisense knockdown PMID:15808836|REF_RGD_ID:5491199 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:823 periapical periodontitis ISO RGD:619813 D RGD:9068941 20200609 RGD PMID:20478458|REF_RGD_ID:7242892 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:9001542 Albuminuria ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-168A>G, in non-diabetic subjects PMID:17183695|REF_RGD_ID:5491201 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:619813 D RGD:9068941 20200609 RGD PMID:15821736|REF_RGD_ID:1358146 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1348941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:734236 D RGD:9068941 20200609 RGD PMID:14569092|REF_RGD_ID:7242896 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:9006646 Metabolic Syndrome ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-168A>G PMID:17183695|REF_RGD_ID:5491201 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:9074 systemic lupus erythematosus ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:g.485A>G PMID:15897313|REF_RGD_ID:5491190 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs3087456 PMID:17711409|REF_RGD_ID:5491203 11983652 CIITA class II major histocompatibility complex transactivator gene DOID:9074 systemic lupus erythematosus resistance ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs3087456A, in a Japanese cohort A allele was protective/decreased risk of developing disease (p=0.006) PMID:17693604|REF_RGD_ID:5491204 11983685 TCTE1 t-complex-associated-testis-expressed 1 gene DOID:12336 male infertility ISO RGD:1313959 D RGD:9068941 20220825 MouseDO 11983685 TCTE1 t-complex-associated-testis-expressed 1 gene DOID:630 genetic disease ISO RGD:1604203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983712 WDFY2 WD repeat and FYVE domain containing 2 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1316474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11983712 WDFY2 WD repeat and FYVE domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1316474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11983712 WDFY2 WD repeat and FYVE domain containing 2 gene DOID:630 genetic disease ISO RGD:1316474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983712 WDFY2 WD repeat and FYVE domain containing 2 gene DOID:893 Wilson disease ISO RGD:1316474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:28492532 11983734 IGFN1 immunoglobulin like and fibronectin type III domain containing 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 11983734 IGFN1 immunoglobulin like and fibronectin type III domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11983734 IGFN1 immunoglobulin like and fibronectin type III domain containing 1 gene DOID:630 genetic disease ISO RGD:1606752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983734 IGFN1 immunoglobulin like and fibronectin type III domain containing 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606752 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 11983734 IGFN1 immunoglobulin like and fibronectin type III domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11983763 ZNF263 zinc finger protein 263 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1316415 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11983763 ZNF263 zinc finger protein 263 gene DOID:1826 epilepsy ISO RGD:1316415 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11983763 ZNF263 zinc finger protein 263 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1316415 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11983763 ZNF263 zinc finger protein 263 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1316415 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 11983763 ZNF263 zinc finger protein 263 gene DOID:630 genetic disease ISO RGD:1316415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983792 ETV7 ETS variant transcription factor 7 gene DOID:0050553 JMP syndrome ISO RGD:1353246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11983792 ETV7 ETS variant transcription factor 7 gene DOID:630 genetic disease ISO RGD:1353246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983819 JTB jumping translocation breakpoint gene DOID:0070048 GAND syndrome ISO RGD:736325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GAND SYNDROME PMID:21681106 11983819 JTB jumping translocation breakpoint gene DOID:0111940 immunodeficiency 42 ISO RGD:736325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11983819 JTB jumping translocation breakpoint gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:736325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11983819 JTB jumping translocation breakpoint gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:736325 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11983819 JTB jumping translocation breakpoint gene DOID:1540 parathyroid carcinoma ISO RGD:736325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11983819 JTB jumping translocation breakpoint gene DOID:5812 MHC class II deficiency ISO RGD:736325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11983819 JTB jumping translocation breakpoint gene DOID:630 genetic disease ISO RGD:736325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983819 JTB jumping translocation breakpoint gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11983828 SMOX spermine oxidase gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1314443 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11983828 SMOX spermine oxidase gene DOID:3525 middle cerebral artery infarction ISO RGD:1314443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30576531 11983828 SMOX spermine oxidase gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1314443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11983828 SMOX spermine oxidase gene DOID:630 genetic disease ISO RGD:1314443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983828 SMOX spermine oxidase gene DOID:9007096 Stroke ISO RGD:1314443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16269634 11983841 BTD biotinidase gene DOID:0060417 3p deletion syndrome ISO RGD:1313273 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 11983841 BTD biotinidase gene DOID:1059 intellectual disability ISO RGD:1313273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:14707518|PMID:17185019|PMID:20224900|PMID:20301497|PMID:22698809|PMID:23644139|PMID:24797656|PMID:25174816|PMID:25423671|PMID:25741868|PMID:25754625|PMID:26361991|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27378695|PMID:27657684|PMID:28492532|PMID:28498829|PMID:28971021|PMID:29359854|PMID:31337602|PMID:9232193|PMID:9375914|PMID:9396567|PMID:9654207 11983841 BTD biotinidase gene DOID:11383 cryptorchidism ISO RGD:1313273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryptorchidism 11983841 BTD biotinidase gene DOID:12849 autistic disorder ISO RGD:1313273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:13680408 11983841 BTD biotinidase gene DOID:630 genetic disease ISO RGD:1313273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:1668630|PMID:18845537|PMID:19757147|PMID:20083419|PMID:20224900|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:21752405|PMID:22698809|PMID:22975760|PMID:22995991|PMID:23644139|PMID:23971085|PMID:24033266|PMID:24066991|PMID:24525934|PMID:24797656|PMID:25087612|PMID:25174816|PMID:25333069|PMID:25741868|PMID:25754625|PMID:25967232|PMID:26334177|PMID:26361991|PMID:26467025|PMID:26589311|PMID:26810761|PMID:27207447|PMID:27329734|PMID:27535533|PMID:27625817|PMID:27657684|PMID:27760515|PMID:27845546|PMID:28281033|PMID:28492532|PMID:28498829|PMID:28682309|PMID:28971021|PMID:29353266|PMID:29359854|PMID:29995633|PMID:30912303|PMID:31208052|PMID:31337602|PMID:31801038|PMID:32300527|PMID:33123633|PMID:33189081|PMID:33217065|PMID:33312878|PMID:34136440|PMID:7509806|PMID:9099842|PMID:9232193|PMID:9375914|PMID:9396567|PMID:9654207 11983841 BTD biotinidase gene DOID:856 biotinidase deficiency ISO RGD:1313273 D RGD:7240710 20180130 OMIM 11983841 BTD biotinidase gene DOID:856 biotinidase deficiency ISO RGD:1313273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Biotinidase deficiency PMID:10206677|PMID:10394193|PMID:10400129|PMID:10655158|PMID:10801053|PMID:10801060|PMID:11313766|PMID:11380987|PMID:11668630|PMID:11865279|PMID:12227467|PMID:12359137|PMID:12618081|PMID:14628140|PMID:14707518|PMID:15059618|PMID:15060693|PMID:15776412|PMID:16199547|PMID:16435182|PMID:1668630|PMID:17185019|PMID:17382128|PMID:17576681|PMID:18645204|PMID:18845537|PMID:19728141|PMID:19757147|PMID:20083419|PMID:20224900|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:21752405|PMID:21907891|PMID:22011816|PMID:22106832|PMID:22698809|PMID:22863189|PMID:22975760|PMID:22995991|PMID:23644139|PMID:23971085|PMID:24033266|PMID:24066991|PMID:24516753|PMID:24525934|PMID:24797656|PMID:24932929|PMID:25087612|PMID:25144890|PMID:25174816|PMID:25333069|PMID:25423671|PMID:25741868|PMID:25754625|PMID:25967232|PMID:25972378|PMID:26117549|PMID:26203071|PMID:26334177|PMID:26361991|PMID:26467025|PMID:26589311|PMID:26635394|PMID:26656798|PMID:26810761|PMID:26990548|PMID:27207447|PMID:27329734|PMID:27378695|PMID:27533158|PMID:27535533|PMID:27625817|PMID:27629047|PMID:27657684|PMID:27760515|PMID:27845546|PMID:28220409|PMID:28281033|PMID:28492532|PMID:28498829|PMID:28649532|PMID:28649539|PMID:28682309|PMID:28971021|PMID:29353266|PMID:29359854|PMID:29728376|PMID:29995633|PMID:30616616|PMID:30912303|PMID:31035122|PMID:31208052|PMID:31337602|PMID:31618753|PMID:31801038|PMID:31973013|PMID:31980526|PMID:32300527|PMID:33123633|PMID:33189081|PMID:33217065|PMID:33223529|PMID:33312878|PMID:34136440|PMID:34448386|PMID:7509806|PMID:7550325|PMID:88555|PMID:9099842|PMID:9158148|PMID:9232193|PMID:9375914|PMID:9396567|PMID:9506660|PMID:9536098|PMID:9654207|PMID:9705240 11983841 BTD biotinidase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1313273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15469856 11983841 BTD biotinidase gene DOID:9008086 Developmental Disabilities ISO RGD:1313273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11983862 RIPK2 receptor interacting serine/threonine kinase 2 gene DOID:1024 leprosy ISO RGD:1319357 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 11983862 RIPK2 receptor interacting serine/threonine kinase 2 gene DOID:630 genetic disease ISO RGD:1319357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983862 RIPK2 receptor interacting serine/threonine kinase 2 gene DOID:8577 ulcerative colitis ISO RGD:1319357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20452301 11983877 EIF4E1B eukaryotic translation initiation factor 4E family member 1B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1601810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11983877 EIF4E1B eukaryotic translation initiation factor 4E family member 1B gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1601810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11983877 EIF4E1B eukaryotic translation initiation factor 4E family member 1B gene DOID:0112103 Sotos syndrome 1 ISO RGD:1601810 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11983877 EIF4E1B eukaryotic translation initiation factor 4E family member 1B gene DOID:630 genetic disease ISO RGD:1601810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983877 EIF4E1B eukaryotic translation initiation factor 4E family member 1B gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1601810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11983877 EIF4E1B eukaryotic translation initiation factor 4E family member 1B gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1601810 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 11983897 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:0060745 Doyne honeycomb retinal dystrophy ISO RGD:1318351 D RGD:7240710 20180130 OMIM 11983897 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:0060745 Doyne honeycomb retinal dystrophy ISO RGD:1318351 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Doyne honeycomb retinal dystrophy | ClinVar Annotator: match by term: Malattia leventinese PMID:10369267|PMID:11384588|PMID:11389162|PMID:12242346|PMID:17666404|PMID:22031286|PMID:25077532|PMID:25741868|PMID:26162006|PMID:28492532|PMID:30541486|PMID:33542268|PMID:33546218 11983897 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:1068 juvenile glaucoma ISO RGD:1318351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma of childhood 11983897 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:11353 bladder diverticulum ISO RGD:1318351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diverticulum of bladder PMID:25741868 11983897 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:1283 enterocele ISO RGD:1318352 D RGD:9068941 20200609 RGD PMID:17872905|REF_RGD_ID:10401789 11983897 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:1432 blindness ISO RGD:1318351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blindness PMID:25741868 11983897 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:1790 malignant mesothelioma ISO RGD:1318351 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27032653 11983897 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:1793 pancreatic cancer ISO RGD:1318351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208748 11983897 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:299 adenocarcinoma ISO RGD:1318351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17671114 11983897 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:305 carcinoma ISO RGD:1318351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11983897 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:3070 high grade glioma ISO RGD:1318351 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:19887559|REF_RGD_ID:10401656 11983897 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:3144 cutis laxa ISO RGD:1318351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa PMID:25741868 11983897 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:4448 macular degeneration ISO RGD:1318351 D RGD:9068941 20200609 RGD protein:altered expression: : PMID:12242346|REF_RGD_ID:10401794 11983897 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:4448 macular degeneration ISO RGD:1318352 D RGD:9068941 20200609 RGD PMID:17666404|REF_RGD_ID:10401788 11983897 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:4448 macular degeneration no_association ISO RGD:1318352 D RGD:9068941 20200609 RGD PMID:17872905|REF_RGD_ID:10401789 11983897 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:630 genetic disease ISO RGD:1318351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11983897 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:657 adenoma ISO RGD:1318351 D RGD:9068941 20200609 RGD protein:decreased expression: : PMID:24080855|REF_RGD_ID:10401654 11983897 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1318351 D RGD:9068941 20200609 RGD protein:decreased expression:liver: PMID:23936443|REF_RGD_ID:10401793 11983897 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:8501 fundus dystrophy ISO RGD:1318351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10369267|PMID:11384588|PMID:11389162|PMID:12242346|PMID:17666404|PMID:22031286|PMID:25077532|PMID:25741868|PMID:26162006|PMID:28492532|PMID:30541486|PMID:33542268|PMID:33546218 11983897 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1318351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11983897 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1318351 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:22275171|REF_RGD_ID:10401792 11983897 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:9002644 Premature Aging ISO RGD:1318352 D RGD:9068941 20200609 RGD PMID:17872905|REF_RGD_ID:10401789 11983897 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1318351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17671114 11983897 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1318351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11983897 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:9007529 Marfan Syndrome, Autosomal Recessive ISO RGD:1318351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recessive Marfanoid Syndrome with Severe Herniation PMID:28492532|PMID:32006683 11983897 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 11983897 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1318351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19115204 11983915 LOC100991458 NKG2-E type II integral membrane protein gene DOID:630 genetic disease ISO RGD:1346640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983930 ABHD4 abhydrolase domain containing 4, N-acyl phospholipase B gene DOID:630 genetic disease ISO RGD:1323534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983930 ABHD4 abhydrolase domain containing 4, N-acyl phospholipase B gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1323534 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11983944 PGLYRP4 peptidoglycan recognition protein 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1318338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11983944 PGLYRP4 peptidoglycan recognition protein 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1318338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11983944 PGLYRP4 peptidoglycan recognition protein 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1318338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11983944 PGLYRP4 peptidoglycan recognition protein 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1318338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11983944 PGLYRP4 peptidoglycan recognition protein 4 gene DOID:5812 MHC class II deficiency ISO RGD:1318338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11983944 PGLYRP4 peptidoglycan recognition protein 4 gene DOID:630 genetic disease ISO RGD:1318338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983944 PGLYRP4 peptidoglycan recognition protein 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11983982 FGF3 fibroblast growth factor 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1346722 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17656375 11983982 FGF3 fibroblast growth factor 3 gene DOID:1059 intellectual disability ISO RGD:1346722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11983982 FGF3 fibroblast growth factor 3 gene DOID:630 genetic disease ISO RGD:1346722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11983982 FGF3 fibroblast growth factor 3 gene DOID:674 cleft palate ISO RGD:1346722 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 11983982 FGF3 fibroblast growth factor 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1346722 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25822088 11983982 FGF3 fibroblast growth factor 3 gene DOID:9000955 Acute Otitis Media ISO RGD:732330 D RGD:9068941 20210611 RGD mRNA:decreased expression:middle ear (mouse) PMID:21889218|REF_RGD_ID:127284853 11983982 FGF3 fibroblast growth factor 3 gene DOID:9001349 Stomatognathic Diseases ISO RGD:1346722 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17656375 11983982 FGF3 fibroblast growth factor 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1346722 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11983982 FGF3 fibroblast growth factor 3 gene DOID:9005439 Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia ISO RGD:1346722 D RGD:7240710 20180130 OMIM 11983982 FGF3 fibroblast growth factor 3 gene DOID:9005439 Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia ISO RGD:1346722 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia | ClinVar Annotator: match by term: Deafness with labyrinthine aplasia microtia and microdontia (LAMM) PMID:17236138|PMID:18435799|PMID:19950373|PMID:21306635|PMID:21480479|PMID:22993869|PMID:25741868|PMID:28492532|PMID:31336982|PMID:33187236 11983982 FGF3 fibroblast growth factor 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1346722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11983982 FGF3 fibroblast growth factor 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1346722 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17656375 11983982 FGF3 fibroblast growth factor 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1346722 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21936542 11983982 FGF3 fibroblast growth factor 3 gene DOID:9296 cleft lip ISO RGD:1346722 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 11983990 BIRC2 baculoviral IAP repeat containing 2 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1347209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 11983990 BIRC2 baculoviral IAP repeat containing 2 gene DOID:0050773 paraganglioma exacerbates ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:adrenal gland, chromaffin cell (human) PMID:31964418|REF_RGD_ID:153344516 11983990 BIRC2 baculoviral IAP repeat containing 2 gene DOID:0050865 tongue squamous cell carcinoma exacerbates ISO RGD:1347209 D RGD:9068941 20220818 RGD protein:increased expression:tongue (human) PMID:18621506|REF_RGD_ID:153323319 11983990 BIRC2 baculoviral IAP repeat containing 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1347209 D RGD:9068941 20220721 RGD protein:increased expression:oral cavity (human) PMID:20967871|REF_RGD_ID:152999012 11983990 BIRC2 baculoviral IAP repeat containing 2 gene DOID:1059 intellectual disability ISO RGD:1347209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11983990 BIRC2 baculoviral IAP repeat containing 2 gene DOID:1240 leukemia ISO RGD:1347209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12970779 11983990 BIRC2 baculoviral IAP repeat containing 2 gene DOID:12704 ataxia telangiectasia ISO RGD:1347209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11983990 BIRC2 baculoviral IAP repeat containing 2 gene DOID:1612 breast cancer ISO RGD:1347209 D RGD:9068941 20200609 RGD PMID:12218061|REF_RGD_ID:1643528 11983990 BIRC2 baculoviral IAP repeat containing 2 gene DOID:1996 rectum adenocarcinoma disease_progression ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:rectum (human) PMID:31964418|REF_RGD_ID:153344516 11983990 BIRC2 baculoviral IAP repeat containing 2 gene DOID:3275 thymoma ameliorates ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:thymus (human) PMID:31964418|REF_RGD_ID:153344516 11983990 BIRC2 baculoviral IAP repeat containing 2 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:stomach (human) PMID:31964418|REF_RGD_ID:153344516 11983990 BIRC2 baculoviral IAP repeat containing 2 gene DOID:3744 cervical squamous cell carcinoma disease_progression ISO RGD:1347209 D RGD:9068941 20200609 RGD DNA, protein:amplification, increased expression:uterine cervix, nucleus PMID:12208731|REF_RGD_ID:1643529 11983990 BIRC2 baculoviral IAP repeat containing 2 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1347209 D RGD:9068941 20220714 RGD protein:increased expression:lung (human) PMID:27737687|REF_RGD_ID:152998985 11983990 BIRC2 baculoviral IAP repeat containing 2 gene DOID:3948 adrenocortical carcinoma exacerbates ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:adrenal gland (human) PMID:31964418|REF_RGD_ID:153344516 11983990 BIRC2 baculoviral IAP repeat containing 2 gene DOID:4074 pancreatic adenocarcinoma exacerbates ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:pancreas (human) PMID:31964418|REF_RGD_ID:153344516 11983990 BIRC2 baculoviral IAP repeat containing 2 gene DOID:4362 cervical cancer ISO RGD:1347209 D RGD:9068941 20200609 RGD mRNA:decreased expression:uterine cervix PMID:16504151|REF_RGD_ID:1643527 11983990 BIRC2 baculoviral IAP repeat containing 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1347209 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney PMID:17154176|REF_RGD_ID:1643526 11983990 BIRC2 baculoviral IAP repeat containing 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1347209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 11983990 BIRC2 baculoviral IAP repeat containing 2 gene DOID:5520 head and neck squamous cell carcinoma exacerbates ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:head or neck skin (human) PMID:31964418|REF_RGD_ID:153344516 11983990 BIRC2 baculoviral IAP repeat containing 2 gene DOID:630 genetic disease ISO RGD:1347209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11983990 BIRC2 baculoviral IAP repeat containing 2 gene DOID:769 neuroblastoma ISO RGD:1347209 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 11983990 BIRC2 baculoviral IAP repeat containing 2 gene DOID:8923 skin melanoma exacerbates ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:zone of skin (human) PMID:31964418|REF_RGD_ID:153344516 11983990 BIRC2 baculoviral IAP repeat containing 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1347209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14647439 11983990 BIRC2 baculoviral IAP repeat containing 2 gene DOID:9000918 Disease Progression ISO RGD:1347209 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 11983990 BIRC2 baculoviral IAP repeat containing 2 gene DOID:9002846 bowenoid papulosis ISO RGD:1347209 D RGD:9068941 20220714 RGD mRNA:increased expression:perianal skin (human) PMID:20346172|REF_RGD_ID:152998971 11983990 BIRC2 baculoviral IAP repeat containing 2 gene DOID:9003654 Testicular Germ Cell Tumor exacerbates ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:testis (human) PMID:31964418|REF_RGD_ID:153344516 11983990 BIRC2 baculoviral IAP repeat containing 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1347209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25330770 11983990 BIRC2 baculoviral IAP repeat containing 2 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1347209 D RGD:9068941 20220825 RGD mRNA:decreased expression:colonic mucosa (human) PMID:27827395|REF_RGD_ID:153344527 11984012 OTOP3 otopetrin 3 gene DOID:630 genetic disease ISO RGD:1315404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11984043 CREG2 cellular repressor of E1A stimulated genes 2 gene DOID:630 genetic disease ISO RGD:1350803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11984055 CLDND1 claudin domain containing 1 gene DOID:630 genetic disease ISO RGD:1349033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11984085 GOLPH3L golgi phosphoprotein 3 like gene DOID:0111940 immunodeficiency 42 ISO RGD:1347625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11984085 GOLPH3L golgi phosphoprotein 3 like gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1347625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11984085 GOLPH3L golgi phosphoprotein 3 like gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1347625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11984085 GOLPH3L golgi phosphoprotein 3 like gene DOID:1540 parathyroid carcinoma ISO RGD:1347625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11984085 GOLPH3L golgi phosphoprotein 3 like gene DOID:5812 MHC class II deficiency ISO RGD:1347625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11984085 GOLPH3L golgi phosphoprotein 3 like gene DOID:630 genetic disease ISO RGD:1347625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11984085 GOLPH3L golgi phosphoprotein 3 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11984094 ZFAND1 zinc finger AN1-type containing 1 gene DOID:630 genetic disease ISO RGD:1605942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11984109 NCF1 neutrophil cytosolic factor 1 gene DOID:0070192 autosomal recessive chronic granulomatous disease 1 ISO RGD:1348698 D RGD:7240710 20180130 OMIM 11984109 NCF1 neutrophil cytosolic factor 1 gene DOID:0070192 autosomal recessive chronic granulomatous disease 1 ISO RGD:1348698 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF1 DEFICIENCY | ClinVar Annotator: match by term: p47-PHOX DEFICIENCY PMID:11133775|PMID:11433300|PMID:11920901|PMID:16972229|PMID:24446915|PMID:25741868|PMID:33746979|PMID:742630|PMID:7678602 11984109 NCF1 neutrophil cytosolic factor 1 gene DOID:0070194 autosomal recessive chronic granulomatous disease 3 ISO RGD:1348698 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III PMID:11920901|PMID:24446915|PMID:25741868|PMID:33746979 11984109 NCF1 neutrophil cytosolic factor 1 gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:1348698 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CYTOCHROME b-NEGATIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED PMID:25741868 11984109 NCF1 neutrophil cytosolic factor 1 gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:1348698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 11984109 NCF1 neutrophil cytosolic factor 1 gene DOID:10763 hypertension ISO RGD:1348698 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:16331104|PMID:17324946|PMID:19018797|PMID:32165127 11984109 NCF1 neutrophil cytosolic factor 1 gene DOID:10825 essential hypertension ISO RGD:1348698 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 11984109 NCF1 neutrophil cytosolic factor 1 gene DOID:10941 intracranial aneurysm ISO RGD:1348698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381132 11984109 NCF1 neutrophil cytosolic factor 1 gene DOID:12894 Sjogren's syndrome ISO RGD:1348698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28135245 11984109 NCF1 neutrophil cytosolic factor 1 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1348698 D RGD:9068941 20200609 RGD DNA:deletion PMID:16532385|REF_RGD_ID:1624399 11984109 NCF1 neutrophil cytosolic factor 1 gene DOID:3265 chronic granulomatous disease ISO RGD:1348698 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chronic granulomatous disease PMID:11920901|PMID:24446915|PMID:25741868|PMID:33746979 11984109 NCF1 neutrophil cytosolic factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11984109 NCF1 neutrophil cytosolic factor 1 gene DOID:630 genetic disease ISO RGD:1348698 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11984109 NCF1 neutrophil cytosolic factor 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1348698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524|PMID:28135245 11984109 NCF1 neutrophil cytosolic factor 1 gene DOID:7148 rheumatoid arthritis induced ISO XCO:0000263 D RGD:9068941 20210212 RGD DNA:polymorphism:M153T (rat) PMID:21275845|REF_RGD_ID:41404729 11984109 NCF1 neutrophil cytosolic factor 1 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1348698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16864727 11984109 NCF1 neutrophil cytosolic factor 1 gene DOID:783 end stage renal disease ISO RGD:1348698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 11984109 NCF1 neutrophil cytosolic factor 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:1348698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14871415 11984109 NCF1 neutrophil cytosolic factor 1 gene DOID:9002395 Hypothermia ISO RGD:1348698 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30366073 11984109 NCF1 neutrophil cytosolic factor 1 gene DOID:9002457 Experimental Arthritis severity ISO RGD:61307 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.M106V, p.M153T (rat) PMID:12461526|REF_RGD_ID:628543 11984109 NCF1 neutrophil cytosolic factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1348698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14871415|PMID:16380483 11984109 NCF1 neutrophil cytosolic factor 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1348698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21742780 11984109 NCF1 neutrophil cytosolic factor 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1348698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28135245 11984109 NCF1 neutrophil cytosolic factor 1 gene DOID:9351 diabetes mellitus ISO RGD:1348698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23723366 11984137 HOXC13 homeobox C13 gene DOID:0111656 ectodermal dysplasia 9 ISO RGD:1349214 D RGD:7240710 20180130 OMIM 11984137 HOXC13 homeobox C13 gene DOID:0111656 ectodermal dysplasia 9 ISO RGD:1349214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 9, hair/nail type PMID:23063621|PMID:23315978|PMID:25741868 11984137 HOXC13 homeobox C13 gene DOID:0111658 ectodermal dysplasia 4 ISO RGD:1349214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24239177 11984137 HOXC13 homeobox C13 gene DOID:630 genetic disease ISO RGD:1349214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11984137 HOXC13 homeobox C13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11984146 GLB1L3 galactosidase beta 1 like 3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1603928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11984146 GLB1L3 galactosidase beta 1 like 3 gene DOID:5419 schizophrenia ISO RGD:1603928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11984146 GLB1L3 galactosidase beta 1 like 3 gene DOID:630 genetic disease ISO RGD:1603928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11984146 GLB1L3 galactosidase beta 1 like 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11984215 HGF hepatocyte growth factor gene DOID:0050625 biliary tract benign neoplasm ISO RGD:70837 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:12819026|REF_RGD_ID:2317903 11984215 HGF hepatocyte growth factor gene DOID:0050700 cardiomyopathy ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16109756|PMID:18083897 11984215 HGF hepatocyte growth factor gene DOID:0050834 CHARGE syndrome ISO RGD:70837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532 11984215 HGF hepatocyte growth factor gene DOID:0050852 limb ischemia treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:15238569|REF_RGD_ID:8548639 11984215 HGF hepatocyte growth factor gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:tongue: PMID:20848408|REF_RGD_ID:8548612 11984215 HGF hepatocyte growth factor gene DOID:0060041 autism spectrum disorder ISO RGD:70837 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11984215 HGF hepatocyte growth factor gene DOID:0060224 atrial fibrillation ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:15008956|REF_RGD_ID:8548608 11984215 HGF hepatocyte growth factor gene DOID:0060903 thrombosis ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15367830 11984215 HGF hepatocyte growth factor gene DOID:0080600 COVID-19 ISO RGD:70837 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11984215 HGF hepatocyte growth factor gene DOID:0080600 COVID-19 severity ISO RGD:70837 D RGD:9068941 20200618 RGD protein:increased expression:plasma (human) PMID:32360286|REF_RGD_ID:30309209 11984215 HGF hepatocyte growth factor gene DOID:0080745 polymyositis disease_progression ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:8952317|REF_RGD_ID:8548628 11984215 HGF hepatocyte growth factor gene DOID:0081267 graft-versus-host disease treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:11390418|REF_RGD_ID:8548544 11984215 HGF hepatocyte growth factor gene DOID:0110497 autosomal recessive nonsyndromic deafness 39 ISO RGD:70837 D RGD:7240710 20180130 OMIM 11984215 HGF hepatocyte growth factor gene DOID:0110497 autosomal recessive nonsyndromic deafness 39 ISO RGD:70837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 39 PMID:18564920|PMID:19576567|PMID:24033266|PMID:25741868|PMID:28492532 11984215 HGF hepatocyte growth factor gene DOID:10126 keratoconus ISO RGD:70837 D RGD:9068941 20200609 RGD DNA:SNP: : rs2286194(human) PMID:24416191|REF_RGD_ID:8548553 11984215 HGF hepatocyte growth factor gene DOID:10223 dermatomyositis disease_progression ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:8952317|REF_RGD_ID:8548628 11984215 HGF hepatocyte growth factor gene DOID:10584 retinitis pigmentosa ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor: PMID:20053975|REF_RGD_ID:8548602 11984215 HGF hepatocyte growth factor gene DOID:10763 hypertension susceptibility ISO RGD:70837 D RGD:9068941 20200609 RGD DNA:polymorphism:intron13:C/A PMID:15127882|REF_RGD_ID:1642064 11984215 HGF hepatocyte growth factor gene DOID:11446 sciatic neuropathy treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:18941443|REF_RGD_ID:8548631 11984215 HGF hepatocyte growth factor gene DOID:11830 myopia ISO RGD:70837 D RGD:9068941 20200609 RGD Han Chinese population PMID:16723436|REF_RGD_ID:1642706 11984215 HGF hepatocyte growth factor gene DOID:11830 myopia no_association ISO RGD:70837 D RGD:9068941 20200609 RGD DNA:SNP: : rs3735520(human) PMID:19060265|REF_RGD_ID:8548600 11984215 HGF hepatocyte growth factor gene DOID:11830 myopia susceptibility ISO RGD:70837 D RGD:9068941 20200609 RGD DNA:SNPs,haplotypes:multiple: PMID:19471602|REF_RGD_ID:8548542 11984215 HGF hepatocyte growth factor gene DOID:12306 vitiligo treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:16117796|REF_RGD_ID:8548598 11984215 HGF hepatocyte growth factor gene DOID:13025 retinopathy of prematurity ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:10751359|REF_RGD_ID:8548546 11984215 HGF hepatocyte growth factor gene DOID:13550 angle-closure glaucoma susceptibility ISO RGD:70837 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype::rs5745718,rs1742817(human) PMID:23585864|REF_RGD_ID:8548548 11984215 HGF hepatocyte growth factor gene DOID:14256 adult-onset Still's disease ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:24387171|REF_RGD_ID:8548659 11984215 HGF hepatocyte growth factor gene DOID:14330 Parkinson's disease ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16791285 11984215 HGF hepatocyte growth factor gene DOID:1612 breast cancer ISO RGD:10708 D RGD:9068941 20220825 MouseDO OMIM:114480 11984215 HGF hepatocyte growth factor gene DOID:1749 squamous cell carcinoma ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21273587 11984215 HGF hepatocyte growth factor gene DOID:178 vascular disease ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15071489 11984215 HGF hepatocyte growth factor gene DOID:1790 malignant mesothelioma ISO RGD:70837 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 11984215 HGF hepatocyte growth factor gene DOID:1793 pancreatic cancer ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20017454|REF_RGD_ID:2317895 11984215 HGF hepatocyte growth factor gene DOID:1826 epilepsy ISO RGD:70837 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 11984215 HGF hepatocyte growth factor gene DOID:2349 arteriosclerosis severity ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:9350587|REF_RGD_ID:8548601 11984215 HGF hepatocyte growth factor gene DOID:2741 bilirubin metabolic disorder treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:9073133|REF_RGD_ID:8548604 11984215 HGF hepatocyte growth factor gene DOID:3069 malignant astrocytoma ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11223164 11984215 HGF hepatocyte growth factor gene DOID:3070 high grade glioma disease_progression ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:12115353|REF_RGD_ID:8548633 11984215 HGF hepatocyte growth factor gene DOID:3082 interstitial lung disease severity ISO RGD:70837 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;DNA:polymorphism:promoter:-1652C>T(human) PMID:21520010|REF_RGD_ID:8548623 11984215 HGF hepatocyte growth factor gene DOID:3179 inverted papilloma ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:inferior nasal concha: PMID:22730814|REF_RGD_ID:8548614 11984215 HGF hepatocyte growth factor gene DOID:331 central nervous system disease ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid: PMID:12100369|REF_RGD_ID:8548547 11984215 HGF hepatocyte growth factor gene DOID:3393 coronary artery disease ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:11669408|REF_RGD_ID:8548610 11984215 HGF hepatocyte growth factor gene DOID:3407 carotid artery disease ISO RGD:70837 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum PMID:16759302|REF_RGD_ID:2313566 11984215 HGF hepatocyte growth factor gene DOID:3454 brain infarction treatment ISO RGD:2794 D RGD:9068941 20200609 RGD PMID:16421510|REF_RGD_ID:8548626 11984215 HGF hepatocyte growth factor gene DOID:3565 meningioma disease_progression ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:12115353|REF_RGD_ID:8548633 11984215 HGF hepatocyte growth factor gene DOID:3770 pulmonary fibrosis ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16324872 11984215 HGF hepatocyte growth factor gene DOID:3770 pulmonary fibrosis ISO RGD:70837 D RGD:9068941 20200609 RGD associated with myositis;protein:increased expression:serum: PMID:8952317|REF_RGD_ID:8548628 11984215 HGF hepatocyte growth factor gene DOID:418 systemic scleroderma ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:24387171|REF_RGD_ID:8548659 11984215 HGF hepatocyte growth factor gene DOID:418 systemic scleroderma severity ISO RGD:70837 D RGD:9068941 20200609 RGD mRNA:increased expression:skin: PMID:22286923|REF_RGD_ID:8548651 11984215 HGF hepatocyte growth factor gene DOID:418 systemic scleroderma treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:17049072|REF_RGD_ID:8548624 11984215 HGF hepatocyte growth factor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:70837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11984215 HGF hepatocyte growth factor gene DOID:4947 cholangiocarcinoma ISO RGD:2794 D RGD:9068941 20200609 RGD mRNA, protein:increased expression: : PMID:10827151|REF_RGD_ID:2317925 11984215 HGF hepatocyte growth factor gene DOID:4947 cholangiocarcinoma ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16974053|REF_RGD_ID:2317909 11984215 HGF hepatocyte growth factor gene DOID:4989 pancreatitis ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14751415 11984215 HGF hepatocyte growth factor gene DOID:5082 liver cirrhosis ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17097021 11984215 HGF hepatocyte growth factor gene DOID:5419 schizophrenia ISO RGD:70837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11984215 HGF hepatocyte growth factor gene DOID:5844 myocardial infarction ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:12419930|REF_RGD_ID:8548609 11984215 HGF hepatocyte growth factor gene DOID:5844 myocardial infarction treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:16570015|REF_RGD_ID:8548632 11984215 HGF hepatocyte growth factor gene DOID:630 genetic disease ISO RGD:70837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 11984215 HGF hepatocyte growth factor gene DOID:633 myositis disease_progression ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:8952317|REF_RGD_ID:8548628 11984215 HGF hepatocyte growth factor gene DOID:684 hepatocellular carcinoma ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11896611|PMID:9932610 11984215 HGF hepatocyte growth factor gene DOID:7148 rheumatoid arthritis disease_progression ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:24387171|REF_RGD_ID:8548659 11984215 HGF hepatocyte growth factor gene DOID:769 neuroblastoma ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16051641 11984215 HGF hepatocyte growth factor gene DOID:8466 retinal degeneration treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:15505072|REF_RGD_ID:8548603 11984215 HGF hepatocyte growth factor gene DOID:8472 localized scleroderma treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:14712301|REF_RGD_ID:8548627 11984215 HGF hepatocyte growth factor gene DOID:869 cholesteatoma ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:fibroblast: PMID:15267172|REF_RGD_ID:8547969 11984215 HGF hepatocyte growth factor gene DOID:8947 diabetic retinopathy ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:15525877|REF_RGD_ID:8548539 11984215 HGF hepatocyte growth factor gene DOID:8947 diabetic retinopathy disease_progression ISO RGD:70837 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum PMID:18335393|REF_RGD_ID:2313565 11984215 HGF hepatocyte growth factor gene DOID:9000011 Gallbladder Neoplasms ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:15118756|REF_RGD_ID:2317899 11984215 HGF hepatocyte growth factor gene DOID:9000039 Spinal Cord Injuries ISO RGD:2794 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal cord: PMID:17549731|REF_RGD_ID:2317487 11984215 HGF hepatocyte growth factor gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2794 D RGD:9068941 20200609 RGD PMID:17549731|REF_RGD_ID:2317487 11984215 HGF hepatocyte growth factor gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:22140459|REF_RGD_ID:8548666 11984215 HGF hepatocyte growth factor gene DOID:9000319 Lentigo ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:dermis: PMID:20662835|REF_RGD_ID:8548653 11984215 HGF hepatocyte growth factor gene DOID:9000386 Polyomavirus Infections ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 11984215 HGF hepatocyte growth factor gene DOID:9000641 Pain ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26000320 11984215 HGF hepatocyte growth factor gene DOID:9000656 Penetrating Wounds ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12890377 11984215 HGF hepatocyte growth factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:10708 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental; PMID:16459153|REF_RGD_ID:8548625 11984215 HGF hepatocyte growth factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25971889 11984215 HGF hepatocyte growth factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:70837 D RGD:9068941 20200609 RGD associated with Melanoma; PMID:10688652|REF_RGD_ID:8548538 11984215 HGF hepatocyte growth factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:70837 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:11893931|REF_RGD_ID:2317904 11984215 HGF hepatocyte growth factor gene DOID:9001044 Choroidal Neovascularization ISO RGD:2794 D RGD:9068941 20200609 RGD protein:increased expression:choroidal tissue: PMID:19013152|REF_RGD_ID:8548599 11984215 HGF hepatocyte growth factor gene DOID:9001472 Nasal Polyps ISO RGD:70837 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:nasal cavity mucosa: PMID:16982975|REF_RGD_ID:8548613 11984215 HGF hepatocyte growth factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10677585|PMID:12918455|PMID:15793283|PMID:16465399|PMID:16627068|PMID:17714472|PMID:18637143 11984215 HGF hepatocyte growth factor gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11896611 11984215 HGF hepatocyte growth factor gene DOID:9001600 Wounds and Injuries treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:16572191|REF_RGD_ID:8548635 11984215 HGF hepatocyte growth factor gene DOID:9001725 Retina Reperfusion Injury ISO RGD:2794 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:retina: PMID:11818401|REF_RGD_ID:8548551 11984215 HGF hepatocyte growth factor gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:11818401|REF_RGD_ID:8548551 11984215 HGF hepatocyte growth factor gene DOID:9002165 Diabetic Nephropathies ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:16340242|REF_RGD_ID:2313567 11984215 HGF hepatocyte growth factor gene DOID:9002170 Experimental Neoplasms ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21273587 11984215 HGF hepatocyte growth factor gene DOID:9004001 Facial Nerve Injuries treatment ISO RGD:2794 D RGD:9068941 20200609 RGD PMID:21562589|REF_RGD_ID:8548634 11984215 HGF hepatocyte growth factor gene DOID:9004009 Reperfusion Injury ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 11984215 HGF hepatocyte growth factor gene DOID:9004118 Experimental Melanoma ISO RGD:10708 D RGD:9068941 20200609 RGD PMID:9823327|REF_RGD_ID:8548620 11984215 HGF hepatocyte growth factor gene DOID:9004217 Nerve Sheath Neoplasms ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:9308731|REF_RGD_ID:2317564 11984215 HGF hepatocyte growth factor gene DOID:9004464 Skin Neoplasms susceptibility ISO RGD:10708 D RGD:9068941 20200609 RGD PMID:10919643|REF_RGD_ID:8548621 11984215 HGF hepatocyte growth factor gene DOID:9004538 Hearing Loss ISO RGD:70837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386 11984215 HGF hepatocyte growth factor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15654357|PMID:9932610 11984215 HGF hepatocyte growth factor gene DOID:9004590 Acute Liver Failure ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12479984 11984215 HGF hepatocyte growth factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2794 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:16297324|REF_RGD_ID:2313568 11984215 HGF hepatocyte growth factor gene DOID:9005941 Rhinosinusitis susceptibility ISO RGD:70837 D RGD:9068941 20200609 RGD DNA:haplotype::rs38850,rs38855,rs38857(human) PMID:20416453|REF_RGD_ID:8548615 11984215 HGF hepatocyte growth factor gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 11984215 HGF hepatocyte growth factor gene DOID:9006646 Metabolic Syndrome ISO RGD:70837 D RGD:9068941 20200609 RGD study in the Japanese population PMID:15713721|REF_RGD_ID:1642702 11984215 HGF hepatocyte growth factor gene DOID:9007096 Stroke treatment ISO RGD:2794 D RGD:9068941 20200609 RGD PMID:16421510|REF_RGD_ID:8548626 11984215 HGF hepatocyte growth factor gene DOID:9007102 Myocardial Ischemia ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12447174 11984215 HGF hepatocyte growth factor gene DOID:9007188 Liver Neoplasms ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8807143 11984215 HGF hepatocyte growth factor gene DOID:9007748 Retinal Neovascularization ISO RGD:10708 D RGD:9068941 20200609 RGD mRNA:increased expression:retina: PMID:17389513|REF_RGD_ID:8548541 11984215 HGF hepatocyte growth factor gene DOID:9008091 Optic Nerve Injuries treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:21443522|REF_RGD_ID:8548549 11984215 HGF hepatocyte growth factor gene DOID:9008510 Chronic Hepatitis ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 11984215 HGF hepatocyte growth factor gene DOID:9008691 Liver Injury treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:16246197|REF_RGD_ID:8548597 11984215 HGF hepatocyte growth factor gene DOID:9119 acute myeloid leukemia ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22683780 11984215 HGF hepatocyte growth factor gene DOID:9206 Barrett's esophagus ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15387324 11984215 HGF hepatocyte growth factor gene DOID:9351 diabetes mellitus ISO RGD:70837 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cornea PMID:16186340|REF_RGD_ID:2313569 11984215 HGF hepatocyte growth factor gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor: PMID:10967068|REF_RGD_ID:8548540 11984215 HGF hepatocyte growth factor gene DOID:9743 diabetic neuropathy ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26000320 11984215 HGF hepatocyte growth factor gene DOID:9743 diabetic neuropathy ISO RGD:70837 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:15734864|REF_RGD_ID:2313570 11984215 HGF hepatocyte growth factor gene DOID:9970 obesity ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12706940|REF_RGD_ID:1642704 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:0060318 acute promyelocytic leukemia ISO RGD:731382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:731382 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:731382 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:16307017|PMID:22703879|PMID:24728327|PMID:25741868|PMID:28492532|PMID:31775759 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:10487 Hirschsprung's disease ISO RGD:731382 D RGD:9068941 20200609 RGD protein:decreased expression:aganglionic colon: PMID:8831584|REF_RGD_ID:12910727 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:10487 Hirschsprung's disease ISO RGD:731382 D RGD:9068941 20200609 RGD protein:decreased expression:intestine smooth muscle" PMID:9247236|REF_RGD_ID:12910747 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:11044 gastroschisis severity ISO RGD:620568 D RGD:9068941 20200609 RGD protein:decreased expression:intestine: PMID:15486901|REF_RGD_ID:12910745 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:11054 urinary bladder cancer ISO RGD:731382 D RGD:9068941 20200609 RGD urinary bladder small cell carcinoma; protein:increased expression:tumor:14/52 (27%) positive (>10% staining) PMID:15502806|REF_RGD_ID:2292430 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:12336 male infertility ISO RGD:620568 D RGD:9068941 20200609 RGD PMID:12932303|REF_RGD_ID:1600050 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:12449 aplastic anemia severity ISO RGD:620568 D RGD:9068941 20200609 RGD PMID:7694680|REF_RGD_ID:12910751 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:14566 disease of cellular proliferation ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:25157968|PMID:28492532 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:1790 malignant mesothelioma ISO RGD:731382 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:1909 melanoma ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10224103|PMID:10362788|PMID:10680913|PMID:11073817|PMID:11276010|PMID:11505412|PMID:11526490|PMID:12697809|PMID:12960119|PMID:14977822|PMID:15685537|PMID:15790786|PMID:16046538|PMID:16226710|PMID:16638875|PMID:16731599|PMID:16741525|PMID:16751810|PMID:16908931|PMID:16954519|PMID:17259998|PMID:17363509|PMID:17372901|PMID:17489795|PMID:17699867|PMID:17824795|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18936790|PMID:18955458|PMID:18980976|PMID:19164557|PMID:19671763|PMID:19737976|PMID:19812602|PMID:19865100|PMID:19996579|PMID:20088873|PMID:20147452|PMID:20545949|PMID:20736294|PMID:21131919|PMID:21159146|PMID:21569090|PMID:21642685|PMID:21689725|PMID:21690468|PMID:21969494|PMID:22160160|PMID:22261812|PMID:22355224|PMID:22357254|PMID:22626674|PMID:22932406|PMID:23106360|PMID:23149070|PMID:23375402|PMID:23582185|PMID:23598963|PMID:23648119|PMID:23714533|PMID:23775962|PMID:24531699|PMID:24661573|PMID:24755198|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:27771813|PMID:28492532|PMID:29098070|PMID:7513208|PMID:7530509|PMID:8589724|PMID:9438854|PMID:9657776 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:1909 melanoma ISO RGD:731382 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10362788|PMID:11073817|PMID:11276010|PMID:11505412|PMID:11526490|PMID:12960119|PMID:15685537|PMID:15790786|PMID:16046538|PMID:16638875|PMID:16731599|PMID:16741525|PMID:16751810|PMID:16908931|PMID:16954519|PMID:17259998|PMID:17363509|PMID:17372901|PMID:17699867|PMID:17824795|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18936790|PMID:18955458|PMID:18980976|PMID:19164557|PMID:19671763|PMID:19737976|PMID:19812602|PMID:19865100|PMID:19996579|PMID:20088873|PMID:20147452|PMID:20545949|PMID:20736294|PMID:21131919|PMID:21159146|PMID:21569090|PMID:21642685|PMID:21689725|PMID:21690468|PMID:21969494|PMID:22160160|PMID:22261812|PMID:22355224|PMID:22357254|PMID:22932406|PMID:23149070|PMID:23375402|PMID:23582185|PMID:23598963|PMID:23714533|PMID:23775962|PMID:24531699|PMID:24661573|PMID:24755198|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:27771813|PMID:28492532|PMID:7513208|PMID:7530509|PMID:8589724|PMID:9438854|PMID:9657776 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:1909 melanoma ISO RGD:731382 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10362788|PMID:10680913|PMID:11073817|PMID:11276010|PMID:11505412|PMID:11526490|PMID:12960119|PMID:14977822|PMID:15685537|PMID:15790786|PMID:16046538|PMID:16638875|PMID:16731599|PMID:16741525|PMID:16751810|PMID:16908931|PMID:16954519|PMID:17259998|PMID:17363509|PMID:17372901|PMID:17699867|PMID:17824795|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18936790|PMID:18955458|PMID:18980976|PMID:19164557|PMID:19671763|PMID:19737976|PMID:19812602|PMID:19865100|PMID:19996579|PMID:20088873|PMID:20147452|PMID:20545949|PMID:20736294|PMID:21131919|PMID:21159146|PMID:21569090|PMID:21642685|PMID:21689725|PMID:21690468|PMID:21969494|PMID:22160160|PMID:22261812|PMID:22355224|PMID:22357254|PMID:22932406|PMID:23149070|PMID:23375402|PMID:23582185|PMID:23598963|PMID:23714533|PMID:23775962|PMID:24531699|PMID:24661573|PMID:24755198|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:27771813|PMID:27981619|PMID:28492532|PMID:28710566|PMID:7513208|PMID:7530509|PMID:8589724|PMID:9438854|PMID:9657776 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:1909 melanoma ISO RGD:731382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10362788|PMID:10680913|PMID:11073817|PMID:11276010|PMID:11505412|PMID:11526490|PMID:12960119|PMID:14645423|PMID:14695343|PMID:14977822|PMID:15685537|PMID:15790786|PMID:16046538|PMID:16638875|PMID:16731599|PMID:16741525|PMID:16751810|PMID:16908931|PMID:16954519|PMID:17259998|PMID:17363509|PMID:17372901|PMID:17489795|PMID:17699867|PMID:17824795|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18936790|PMID:18955458|PMID:18980976|PMID:19164557|PMID:19671763|PMID:19737976|PMID:19812602|PMID:19865100|PMID:19996579|PMID:20088873|PMID:20147452|PMID:20545949|PMID:20736294|PMID:20890793|PMID:21131919|PMID:21159146|PMID:21569090|PMID:21642685|PMID:21689725|PMID:21690468|PMID:21969494|PMID:22160160|PMID:22261812|PMID:22355224|PMID:22357254|PMID:22626674|PMID:22932406|PMID:23106360|PMID:23149070|PMID:23375402|PMID:23582185|PMID:23598963|PMID:23648119|PMID:23714533|PMID:23775962|PMID:24531699|PMID:24661573|PMID:24755198|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:27771813|PMID:27981619|PMID:28492532|PMID:28506695|PMID:28710566|PMID:29098070|PMID:33212994|PMID:34338390|PMID:7513208|PMID:7530509|PMID:8589724|PMID:9438854|PMID:9657776 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:1909 melanoma disease_progression ISO RGD:731382 D RGD:9068941 20200609 RGD PMID:9310959|REF_RGD_ID:12910725 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:1967 leiomyosarcoma ISO RGD:731382 D RGD:9068941 20200609 RGD Uterine; protein:increased expression:tumor:10/14 tumors (71%) PMID:17367465|REF_RGD_ID:2292170 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:2154 nephroblastoma disease_progression ISO RGD:731382 D RGD:9068941 20200609 RGD PMID:19010635|REF_RGD_ID:12910726 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:2226 myeloproliferative neoplasm ISO RGD:731382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm PMID:11208730|PMID:11505412|PMID:15837988|PMID:17259998|PMID:19175693|PMID:21689725|PMID:23582185|PMID:24847623|PMID:25157968|PMID:28492532 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:2361 macrocytic anemia ISO RGD:731383 D RGD:9068941 20220825 MouseDO 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:2394 ovarian cancer ISO RGD:731382 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:22703879|PMID:25176472|PMID:25741868|PMID:28492532|PMID:31911633|PMID:32091409 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:2531 hematologic cancer ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hematological malignancies PMID:11380399|PMID:11493470|PMID:15790786|PMID:15972446|PMID:16352739|PMID:16384925|PMID:16731599|PMID:16741525|PMID:16912224|PMID:17259998|PMID:18024392|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19865100|PMID:21689725|PMID:22504184|PMID:23582185|PMID:23714533|PMID:24045550|PMID:25157968|PMID:25741868|PMID:26158763|PMID:26822237|PMID:27777718|PMID:28492532|PMID:7479840|PMID:7513208|PMID:7691885|PMID:8589724|PMID:9657776|PMID:9827716|PMID:9990072 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:2913 acute pancreatitis ISO RGD:620568 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:jejunum PMID:23599644|REF_RGD_ID:12910752 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:2998 testicular cancer ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cancer of the testes | ClinVar Annotator: match by term: Malignant tumor of testis PMID:25741868|PMID:28492532 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:2999 granulosa cell tumor ISO RGD:731382 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary PMID:18028988|REF_RGD_ID:2302173 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:3008 invasive ductal carcinoma severity ISO RGD:731382 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:loss of expression associated with lymph node metastasis (p<0.0001) and reduced disease-free survival (p=0.0041) PMID:16721362|REF_RGD_ID:2292426 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:3082 interstitial lung disease ISO RGD:731382 D RGD:9068941 20200609 RGD PMID:15887294|REF_RGD_ID:12910743 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:3263 piebaldism ISO RGD:731382 D RGD:7240710 20180130 OMIM 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:3263 piebaldism ISO RGD:731382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Partial albinism | ClinVar Annotator: match by term: Piebaldism | ClinVar Annotator: match by term: Piebaldism with sensorineural deafness | ClinVar Annotator: match by term: Piebaldism, progressive PMID:10554798|PMID:11074500|PMID:11174389|PMID:11380399|PMID:1370874|PMID:1376329|PMID:1384325|PMID:15194144|PMID:16081693|PMID:16199547|PMID:16307017|PMID:17065430|PMID:1717985|PMID:1720553|PMID:17525721|PMID:20140688|PMID:20205869|PMID:20339585|PMID:20890793|PMID:22670867|PMID:22703879|PMID:23020152|PMID:23593539|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25176472|PMID:25637381|PMID:25741868|PMID:25975190|PMID:26158763|PMID:27023146|PMID:27214377|PMID:27258816|PMID:28492532|PMID:30019023|PMID:31775759|PMID:338655|PMID:34008892|PMID:7529964|PMID:9450866|PMID:9699740 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:3275 thymoma ISO RGD:731382 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thymoma PMID:10680913|PMID:11276010|PMID:11505412|PMID:12960119|PMID:14977822|PMID:15790786|PMID:16731599|PMID:16908931|PMID:17372901|PMID:17699867|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18936790|PMID:18980976|PMID:19461405|PMID:19671763|PMID:19812602|PMID:19861435|PMID:19996579|PMID:20736294|PMID:20970876|PMID:21159146|PMID:21325067|PMID:21642685|PMID:21690468|PMID:21969494|PMID:22261812|PMID:22357254|PMID:23375402|PMID:23598963|PMID:24755198|PMID:25157968|PMID:27771813|PMID:27981619|PMID:28492532|PMID:28710566|PMID:7530509|PMID:9438854 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:349 systemic mastocytosis ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systemic mast cell disease PMID:18559612 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:350 mastocytosis ISO RGD:731382 D RGD:7240710 20180130 OMIM 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:350 mastocytosis ISO RGD:731382 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mast cell disease | ClinVar Annotator: match by term: Mastocytosis PMID:10554798|PMID:11380399|PMID:15790786|PMID:16081693|PMID:16307017|PMID:17065430|PMID:17525721|PMID:20140688|PMID:20205869|PMID:20339585|PMID:20890793|PMID:22703879|PMID:23020152|PMID:23593539|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25637381|PMID:25741868|PMID:25975190|PMID:26158763|PMID:27023146|PMID:27214377|PMID:27258816|PMID:28492532|PMID:30019023|PMID:31775759|PMID:7529964|PMID:8589724 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:3663 cutaneous mastocytosis ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous mastocytosis PMID:11276010|PMID:11380399|PMID:11493470|PMID:11505412|PMID:12960119|PMID:15173254|PMID:15790786|PMID:15972446|PMID:16352739|PMID:16384925|PMID:16731599|PMID:16908931|PMID:16912224|PMID:17259998|PMID:17372901|PMID:18024392|PMID:18980976|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19812602|PMID:19865100|PMID:20736294|PMID:21159146|PMID:21689725|PMID:22357254|PMID:22504184|PMID:23582185|PMID:23714533|PMID:24045550|PMID:24755198|PMID:25157968|PMID:25741868|PMID:26158763|PMID:26822237|PMID:27777718|PMID:28492532|PMID:7479840|PMID:7530509|PMID:7691885|PMID:8589724|PMID:9438854|PMID:9827716|PMID:9990072 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:3717 gastric adenocarcinoma ISO RGD:731382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:11073817|PMID:11276010|PMID:11526490|PMID:15790786|PMID:16908931|PMID:17372901|PMID:17824795|PMID:18510589|PMID:18980976|PMID:20545949|PMID:22626674|PMID:23648119|PMID:25157968|PMID:26619011|PMID:28492532|PMID:29098070|PMID:7530509|PMID:9438854 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:3907 lung squamous cell carcinoma ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:731382 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:11276010|PMID:15790786|PMID:16731599|PMID:16908931|PMID:17372901|PMID:18448188|PMID:18980976|PMID:19671763|PMID:19996579|PMID:21642685|PMID:21690468|PMID:22261812|PMID:22357254|PMID:23598963|PMID:25157968|PMID:27771813|PMID:27981619|PMID:28492532|PMID:7530509|PMID:9438854 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:4226 endometrial stromal sarcoma ISO RGD:731382 D RGD:9068941 20200609 RGD protein:increased expression:tumor:increased in 6/8 (75%) of tumors PMID:17367465|REF_RGD_ID:2292170 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:4440 seminoma ISO RGD:731382 D RGD:9068941 20200609 RGD DNA:transversion:CDS:2467G>C, amino acid D816H PMID:10362788|REF_RGD_ID:2292181 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:4441 dysgerminoma ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysgerminoma PMID:10362788|PMID:11276010|PMID:11380399|PMID:11493470|PMID:15790786|PMID:15972446|PMID:16352739|PMID:16384925|PMID:16731599|PMID:16912224|PMID:17259998|PMID:18024392|PMID:18955458|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19865100|PMID:20147452|PMID:21642685|PMID:21689725|PMID:21690468|PMID:22504184|PMID:23582185|PMID:23714533|PMID:24045550|PMID:25157968|PMID:25741868|PMID:26158763|PMID:26822237|PMID:27777718|PMID:28492532|PMID:7479840|PMID:7530509|PMID:7691885|PMID:8589724|PMID:9438854|PMID:9827716|PMID:9990072 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:4450 renal cell carcinoma ISO RGD:731382 D RGD:9068941 20200609 RGD chromophobe RCC only; mRNA:increased expression:tumor:positive in 6/7 chromophobe RCCs, but 0/15 clear cell RCCs and 1/15 papillary RCCs PMID:15780567|REF_RGD_ID:2292414 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:4450 renal cell carcinoma ISO RGD:731382 D RGD:9068941 20200609 RGD papillary RCC only; DNA:mutation:intron:heterozygous T>A mutation in intron 17 found in 94% of cases, also protein found to be cytoplasmic not membrane-bound in 100% of cases PMID:15073597|REF_RGD_ID:2292421 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:731382 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:5389 oxyphilic adenoma ISO RGD:731382 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:positive in 7/8 renal oncocytomas PMID:15780567|REF_RGD_ID:2292414 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:5409 lung small cell carcinoma ISO RGD:731382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15499612 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:5419 schizophrenia ISO RGD:731382 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:16307017|PMID:22703879|PMID:24728327|PMID:25741868|PMID:28492532|PMID:31775759 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:5557 testicular germ cell cancer ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis PMID:10362788|PMID:11276010|PMID:15790786|PMID:16731599|PMID:18955458|PMID:19164557|PMID:20147452|PMID:21642685|PMID:21690468|PMID:25157968|PMID:25741868|PMID:26822237|PMID:7530509|PMID:9438854 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:612 primary immunodeficiency disease ISO RGD:731383 D RGD:9068941 20200609 RGD PMID:12354381|REF_RGD_ID:12910746 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:6171 uterine carcinosarcoma ISO RGD:731382 D RGD:9068941 20200609 RGD Uterine Carcinosarcomas; protein:increased expression:tumor:10/12 tumors (83%) PMID:17367465|REF_RGD_ID:2292170 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:731382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:8440 ileus treatment ISO RGD:620568 D RGD:9068941 20220421 RGD PMID:30852906|REF_RGD_ID:151893492 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:850 lung disease ISO RGD:731382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21471107 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:8923 skin melanoma ISO RGD:731382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:11073817|PMID:11276010|PMID:11526490|PMID:15790786|PMID:16908931|PMID:17372901|PMID:17824795|PMID:18510589|PMID:18980976|PMID:20545949|PMID:22626674|PMID:23648119|PMID:25157968|PMID:26619011|PMID:28492532|PMID:29098070|PMID:7530509|PMID:9438854 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:731382 D RGD:9068941 20200609 RGD DNA:missense mutations: :multiple (human) PMID:17768701|REF_RGD_ID:2302175 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:731382 D RGD:9068941 20200609 RGD DNA:mutations:exon (human) PMID:18006222|REF_RGD_ID:2302174 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9001581 Constipation ISO RGD:620568 D RGD:9068941 20220505 RGD mRNA, protein:decreased expression:colon PMID:33792838|REF_RGD_ID:152025536 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9002566 Gastric Reperfusion Injury ISO RGD:620568 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:stomach: PMID:20040059|REF_RGD_ID:12911222 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:731382 D RGD:9068941 20200609 RGD advanced serous ovarian carcinoma; protein:increased expression:tumor:expression correlated with disease progression after first-line chemotherapy (i.e. chemotherapy resistance), p=0.029 PMID:15033665|REF_RGD_ID:2292422 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:731383 D RGD:9068941 20200609 RGD PMID:25972476|REF_RGD_ID:12910744 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:731382 D RGD:7240710 20180130 OMIM 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis PMID:10362788|PMID:11276010|PMID:15790786|PMID:16731599|PMID:18955458|PMID:19164557|PMID:20147452|PMID:21642685|PMID:21690468|PMID:25157968|PMID:25741868|PMID:26822237|PMID:7530509|PMID:9438854 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9004240 Phyllodes Tumor severity ISO RGD:731382 D RGD:9068941 20200609 RGD protein:increased expression:tumor:significantly more malignant tumors positive for KIT (46%) vs benign (17%) or borderline (24%), p=0.001 PMID:15044924|REF_RGD_ID:2292419 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9004283 Transplant Rejection ISO RGD:620568 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:9862859|REF_RGD_ID:12910749 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9004590 Acute Liver Failure ISO RGD:731382 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:10385646|REF_RGD_ID:12910730 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:731382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22277784 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:620568 D RGD:9068941 20200609 RGD DNA:mutation (rat) PMID:18445266|REF_RGD_ID:2302172 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620568 D RGD:9068941 20221020 RGD protein:increased expression:pancreas PMID:17235568|REF_RGD_ID:2311225 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9006532 Hematologic Neoplasms ISO RGD:731382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hematologic neoplasm | ClinVar Annotator: match by term: Hematological neoplasm PMID:10362788|PMID:11073817|PMID:11276010|PMID:11380399|PMID:11493470|PMID:11526490|PMID:15790786|PMID:15972446|PMID:16352739|PMID:16384925|PMID:16731599|PMID:16741525|PMID:16908931|PMID:16912224|PMID:17259998|PMID:17372901|PMID:17824795|PMID:18024392|PMID:18510589|PMID:18955458|PMID:18980976|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19865100|PMID:20147452|PMID:20545949|PMID:21642685|PMID:21689725|PMID:21690468|PMID:22504184|PMID:22626674|PMID:23582185|PMID:23648119|PMID:23714533|PMID:24045550|PMID:25157968|PMID:25741868|PMID:26158763|PMID:26619011|PMID:26822237|PMID:27777718|PMID:28492532|PMID:29098070|PMID:7479840|PMID:7513208|PMID:7530509|PMID:7691885|PMID:8589724|PMID:9438854|PMID:9657776|PMID:9827716|PMID:9990072 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9006796 Gastrointestinal Neoplasms ISO RGD:731382 D RGD:9068941 20200609 RGD Gastrointestinal Stromal Tumors PMID:9697690|REF_RGD_ID:1600047 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9007058 Primitive Peripheral Neuroectodermal Tumors ISO RGD:731382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15618851 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11380399|PMID:16081693|PMID:16307017|PMID:17065430|PMID:18830255|PMID:19861435|PMID:20140688|PMID:20205869|PMID:20339585|PMID:22703879|PMID:23020152|PMID:23593539|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25637381|PMID:25741868|PMID:26158763|PMID:27023146|PMID:27214377|PMID:27258816|PMID:28166811|PMID:28492532|PMID:29146883|PMID:31775759|PMID:7529964 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731382 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11380399|PMID:16081693|PMID:16307017|PMID:17065430|PMID:18830255|PMID:19861435|PMID:20140688|PMID:20205869|PMID:20339585|PMID:22703879|PMID:23020152|PMID:23593539|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25637381|PMID:25741868|PMID:26158763|PMID:27023146|PMID:27214377|PMID:27258816|PMID:28492532|PMID:29146883|PMID:29625052|PMID:31775759|PMID:7529964 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731382 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10554798|PMID:11380399|PMID:16081693|PMID:16307017|PMID:17065430|PMID:18830255|PMID:19861435|PMID:20140688|PMID:20205869|PMID:20339585|PMID:22703879|PMID:23020152|PMID:23593539|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25637381|PMID:25741868|PMID:26158763|PMID:27023146|PMID:27214377|PMID:27258816|PMID:28492532|PMID:29146883|PMID:29625052|PMID:31775759|PMID:7529964 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731382 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10554798|PMID:10680913|PMID:11276010|PMID:11380399|PMID:11493470|PMID:12960119|PMID:14977822|PMID:15790786|PMID:15897563|PMID:15972446|PMID:16081693|PMID:16307017|PMID:16352739|PMID:16384925|PMID:16460801|PMID:16731599|PMID:16908931|PMID:16912224|PMID:17001171|PMID:17065430|PMID:17259998|PMID:17372901|PMID:17576681|PMID:17943734|PMID:18024392|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18830255|PMID:18936790|PMID:18980976|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19671763|PMID:19812602|PMID:19861435|PMID:19865100|PMID:19996579|PMID:20140688|PMID:20205869|PMID:20339585|PMID:21642685|PMID:21689725|PMID:21690468|PMID:22083669|PMID:22261812|PMID:22357254|PMID:22504184|PMID:22703879|PMID:23020152|PMID:23582185|PMID:23593539|PMID:23598963|PMID:23714533|PMID:24045550|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25243845|PMID:25504284|PMID:25637381|PMID:25741868|PMID:26158763|PMID:26822237|PMID:27023146|PMID:27214377|PMID:27258816|PMID:27771813|PMID:27777718|PMID:27981619|PMID:28327988|PMID:28492532|PMID:28520972|PMID:28710566|PMID:28724667|PMID:29146883|PMID:29625052|PMID:29641532|PMID:30019023|PMID:30280421|PMID:31350202|PMID:31775759|PMID:7479840|PMID:7529964|PMID:7530509|PMID:7691885|PMID:8589724|PMID:9438854|PMID:9536098|PMID:9797363|PMID:9827716|PMID:9990072 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731382 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10554798|PMID:10680913|PMID:11276010|PMID:11380399|PMID:11493470|PMID:12960119|PMID:14977822|PMID:15790786|PMID:15897563|PMID:15972446|PMID:16081693|PMID:16307017|PMID:16352739|PMID:16384925|PMID:16460801|PMID:16731599|PMID:16908931|PMID:16912224|PMID:17001171|PMID:17065430|PMID:17259998|PMID:17372901|PMID:17576681|PMID:17943734|PMID:18024392|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18830255|PMID:18936790|PMID:18980976|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19671763|PMID:19812602|PMID:19861435|PMID:19865100|PMID:19996579|PMID:20140688|PMID:20205869|PMID:20339585|PMID:21642685|PMID:21689725|PMID:21690468|PMID:22083669|PMID:22261812|PMID:22357254|PMID:22504184|PMID:22703879|PMID:23020152|PMID:23582185|PMID:23593539|PMID:23598963|PMID:23714533|PMID:24045550|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25243845|PMID:25504284|PMID:25637381|PMID:25741868|PMID:26158763|PMID:26822237|PMID:27023146|PMID:27214377|PMID:27258816|PMID:27771813|PMID:27777718|PMID:27981619|PMID:28327988|PMID:28492532|PMID:28520972|PMID:28710566|PMID:28724667|PMID:29146883|PMID:29625052|PMID:29641532|PMID:30019023|PMID:30280421|PMID:31350202|PMID:31775759|PMID:31911633|PMID:32091409|PMID:7479840|PMID:7529964|PMID:7530509|PMID:7691885|PMID:8589724|PMID:9438854|PMID:9536098|PMID:9797363|PMID:9827716|PMID:9990072 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9007432 Latent Tuberculosis ISO RGD:731382 D RGD:9068941 20210212 RGD mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human PMID:29602771|REF_RGD_ID:41404732 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:731382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20941507 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:731382 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:mean immunoreactive score = 5.90 in normal breast, 0.90 in malignant tissue (p=0.001) PMID:14669790|REF_RGD_ID:2292423 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:731382 D RGD:9068941 20200609 RGD protein:increased expression:tumor:significantly increased vs fibroadenoma (p=0.035) PMID:17848740|REF_RGD_ID:2292424 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:731382 D RGD:9068941 20200609 RGD PMID:21388062|REF_RGD_ID:12910741 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms severity ISO RGD:731382 D RGD:9068941 20200609 RGD protein:expression:tumor:expression correlated with poor overall survival (p=0.051) and with high grade (p=0.019) PMID:17867595|REF_RGD_ID:2292425 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9119 acute myeloid leukemia ISO RGD:731382 D RGD:7240710 20180130 OMIM 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9119 acute myeloid leukemia ISO RGD:731382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11380399|PMID:11493470|PMID:14645423|PMID:14695343|PMID:15685537|PMID:15790786|PMID:15972446|PMID:16352739|PMID:16384925|PMID:16731599|PMID:16741525|PMID:16912224|PMID:17259998|PMID:17699867|PMID:18024392|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19865100|PMID:20890793|PMID:21642685|PMID:21689725|PMID:22504184|PMID:22932406|PMID:23149070|PMID:23582185|PMID:23714533|PMID:24045550|PMID:25157968|PMID:25741868|PMID:26158763|PMID:26822237|PMID:27777718|PMID:28492532|PMID:28506695|PMID:7479840|PMID:7513208|PMID:7691885|PMID:8589724|PMID:9657776|PMID:9827716|PMID:9990072 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731382 D RGD:7240710 20180130 OMIM 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731382 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, familial | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:10224103|PMID:10362788|PMID:10554798|PMID:10680913|PMID:11073817|PMID:11074500|PMID:11208730|PMID:11276010|PMID:11380399|PMID:11493470|PMID:11505412|PMID:11526490|PMID:11984533|PMID:1279971|PMID:12878163|PMID:12960119|PMID:1370874|PMID:1384325|PMID:14645423|PMID:14695343|PMID:14977822|PMID:15194144|PMID:15236194|PMID:15685537|PMID:15790786|PMID:15824741|PMID:15837988|PMID:15897563|PMID:15972446|PMID:16046538|PMID:16081693|PMID:16183119|PMID:16199547|PMID:16220461|PMID:16307017|PMID:16327443|PMID:16352739|PMID:16384925|PMID:16460801|PMID:16638875|PMID:16731599|PMID:16741525|PMID:16751810|PMID:16908931|PMID:16912224|PMID:16954519|PMID:17001171|PMID:17065430|PMID:17107413|PMID:17124503|PMID:1720553|PMID:17259998|PMID:17363509|PMID:17372901|PMID:17489795|PMID:17525721|PMID:17576681|PMID:17699867|PMID:17710669|PMID:17824795|PMID:17904548|PMID:17943734|PMID:18024392|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18567837|PMID:18830255|PMID:18936790|PMID:18955458|PMID:18980976|PMID:18986703|PMID:19164557|PMID:19175693|PMID:19262599|PMID:19671763|PMID:19737976|PMID:19812602|PMID:19847891|PMID:19861435|PMID:19865100|PMID:19996579|PMID:20137753|PMID:20140688|PMID:20147452|PMID:20205869|PMID:20339585|PMID:20545949|PMID:20736294|PMID:20890793|PMID:21119596|PMID:21159146|PMID:21569090|PMID:21642685|PMID:21689725|PMID:21690468|PMID:22083669|PMID:22160160|PMID:22261812|PMID:22355224|PMID:22357254|PMID:22504184|PMID:22626674|PMID:22670867|PMID:22703879|PMID:22932406|PMID:23020152|PMID:23106360|PMID:23149070|PMID:23567324|PMID:23582185|PMID:23593539|PMID:23598963|PMID:23610110|PMID:23648119|PMID:23714533|PMID:24045550|PMID:24205792|PMID:24531699|PMID:24565205|PMID:24582309|PMID:24661573|PMID:24687822|PMID:24728327|PMID:24755198|PMID:24847623|PMID:25079768|PMID:25139846|PMID:25157968|PMID:25176472|PMID:25243845|PMID:25504284|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25886408|PMID:25975190|PMID:26158763|PMID:26619011|PMID:26689913|PMID:26822237|PMID:27023146|PMID:27068398|PMID:27214377|PMID:27258816|PMID:27577211|PMID:27771813|PMID:27777718|PMID:27981619|PMID:28327988|PMID:28492532|PMID:28506695|PMID:28520972|PMID:28710566|PMID:28724667|PMID:29098070|PMID:29146883|PMID:29439183|PMID:29625052|PMID:29641532|PMID:29896733|PMID:30019023|PMID:30280421|PMID:30374176|PMID:31350202|PMID:31775759|PMID:31911633|PMID:32091409|PMID:33212994|PMID:34338390|PMID:7479840|PMID:7513208|PMID:7529964|PMID:7530509|PMID:7687267|PMID:7691885|PMID:7694728|PMID:8589724|PMID:8875953|PMID:9029028|PMID:9438854|PMID:9536098|PMID:9657776|PMID:9797363|PMID:9827716|PMID:9990072 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9253 gastrointestinal stromal tumor disease_progression ISO RGD:731382 D RGD:9068941 20220421 RGD DNA:SNP: :rs17084733 (human) PMID:30983504|REF_RGD_ID:151709007 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9254 mast-cell leukemia ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mast cell leukemia PMID:11380399|PMID:11493470|PMID:15972446|PMID:16352739|PMID:16384925|PMID:16731599|PMID:16912224|PMID:17259998|PMID:18024392|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19865100|PMID:21689725|PMID:22504184|PMID:23582185|PMID:23714533|PMID:24045550|PMID:25157968|PMID:25741868|PMID:26158763|PMID:26822237|PMID:27777718|PMID:28492532|PMID:7479840|PMID:7691885|PMID:8589724|PMID:9827716|PMID:9990072 11984273 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:962 neurofibroma ISO RGD:731382 D RGD:9068941 20200609 RGD mRNA:increased expression:skin: PMID:7692836|REF_RGD_ID:12910728 11984305 ODR4 odr-4 GPCR localization factor homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1346906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11984305 ODR4 odr-4 GPCR localization factor homolog gene DOID:630 genetic disease ISO RGD:1346906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11984305 ODR4 odr-4 GPCR localization factor homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11984326 WDR76 WD repeat domain 76 gene DOID:2717 Bloom syndrome ISO RGD:1605336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11984326 WDR76 WD repeat domain 76 gene DOID:630 genetic disease ISO RGD:1605336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11984326 WDR76 WD repeat domain 76 gene DOID:684 hepatocellular carcinoma ISO RGD:1605336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11984326 WDR76 WD repeat domain 76 gene DOID:9256 colorectal cancer ISO RGD:1605336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11984371 SLC25A43 solute carrier family 25 member 43 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11984371 SLC25A43 solute carrier family 25 member 43 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1605262 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 11984371 SLC25A43 solute carrier family 25 member 43 gene DOID:12849 autistic disorder ISO RGD:1605262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11984371 SLC25A43 solute carrier family 25 member 43 gene DOID:630 genetic disease ISO RGD:1605262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11984380 SUGP1 SURP and G-patch domain containing 1 gene DOID:630 genetic disease ISO RGD:1321429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11984398 CDCA2 cell division cycle associated 2 gene DOID:0080600 COVID-19 ISO RGD:1322226 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11984398 CDCA2 cell division cycle associated 2 gene DOID:0110165 Charcot-Marie-Tooth disease type 2E ISO RGD:1322226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E PMID:19158810|PMID:20039262|PMID:28492532 11984398 CDCA2 cell division cycle associated 2 gene DOID:2661 myoepithelioma ISO RGD:1322226 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11984398 CDCA2 cell division cycle associated 2 gene DOID:630 genetic disease ISO RGD:1322226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11984398 CDCA2 cell division cycle associated 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1322226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11984422 GFM2 GTP dependent ribosome recycling factor mitochondrial 2 gene DOID:0111474 combined oxidative phosphorylation deficiency 1 ISO RGD:1603941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 PMID:28492532|PMID:29075935 11984422 GFM2 GTP dependent ribosome recycling factor mitochondrial 2 gene DOID:0111475 combined oxidative phosphorylation deficiency 39 ISO RGD:1603941 D RGD:7240710 20190515 OMIM 11984422 GFM2 GTP dependent ribosome recycling factor mitochondrial 2 gene DOID:0111475 combined oxidative phosphorylation deficiency 39 ISO RGD:1603941 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 39 PMID:17576681|PMID:22700954|PMID:25741868|PMID:26016410|PMID:28492532|PMID:29075935|PMID:9536098 11984422 GFM2 GTP dependent ribosome recycling factor mitochondrial 2 gene DOID:3323 Sandhoff disease ISO RGD:1603941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:18758829|PMID:28492532|PMID:7550345 11984422 GFM2 GTP dependent ribosome recycling factor mitochondrial 2 gene DOID:630 genetic disease ISO RGD:1603941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22700954|PMID:25741868|PMID:28492532 11984422 GFM2 GTP dependent ribosome recycling factor mitochondrial 2 gene DOID:700 mitochondrial metabolism disease ISO RGD:1603941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:28492532|PMID:29075935 11984422 GFM2 GTP dependent ribosome recycling factor mitochondrial 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:2049575|PMID:21086191|PMID:24033266|PMID:25637381|PMID:25741868|PMID:25758994|PMID:25846194|PMID:27011056|PMID:27964749|PMID:28492532|PMID:28748566|PMID:30374176 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:0050827 rheumatic heart disease ISO RGD:71029 D RGD:9068941 20230202 RGD mRNA:increases expression:mitral valve, heart (rat) PMID:33179113|REF_RGD_ID:155882558 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:0050851 glomerulosclerosis ISO RGD:71029 D RGD:9068941 20200609 RGD PMID:20610530|REF_RGD_ID:7257557 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:0050855 renal fibrosis ISO RGD:732584 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:23224993|REF_RGD_ID:7257551 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:0111944 immunodeficiency 31B ISO RGD:737225 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:10763 hypertension ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11682445 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:11372 megacolon ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:11664 nephrosclerosis ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12868502 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:12932 endomyocardial fibrosis ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11300427 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:737225 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:737225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:18272325|PMID:19424605|PMID:2049575|PMID:21086191|PMID:21984974|PMID:22001912|PMID:22019127|PMID:2235526|PMID:24033266|PMID:24036952|PMID:24055113|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:27011056|PMID:27888582|PMID:27964749|PMID:28492532|PMID:28748566|PMID:29192238|PMID:30115950|PMID:30374176|PMID:30837697|PMID:31141158|PMID:8514866|PMID:9036918|PMID:9399899 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:13619 extrahepatic cholestasis ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:13948 bladder neck obstruction treatment ISO RGD:71029 D RGD:9068941 20200609 RGD PMID:23313213|REF_RGD_ID:7257549 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10706896|PMID:16199547|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19344236|PMID:19424605|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21984974|PMID:22001912|PMID:22019127|PMID:2235526|PMID:23148498|PMID:2349939|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24922459|PMID:24951259|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27153395|PMID:27306637|PMID:27888582|PMID:27964749|PMID:28087566|PMID:28492532|PMID:28655553|PMID:28748566|PMID:29543232|PMID:29590070|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30374176|PMID:30379966|PMID:30793832|PMID:30919682|PMID:31075413|PMID:31126764|PMID:31531849|PMID:31719132|PMID:7695699|PMID:8218237|PMID:8514866|PMID:8990011|PMID:9536098 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:737225 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10706896|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19344236|PMID:19424605|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21984974|PMID:22001912|PMID:22019127|PMID:2235526|PMID:23148498|PMID:2349939|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24922459|PMID:24951259|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27153395|PMID:27888582|PMID:27964749|PMID:28087566|PMID:28166811|PMID:28492532|PMID:28748566|PMID:29590070|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30374176|PMID:30379966|PMID:31075413|PMID:31531849|PMID:31719132|PMID:33282382|PMID:7695699|PMID:8218237|PMID:8514866|PMID:8990011|PMID:9536098 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:737225 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:12131463|PMID:12488462|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19477391|PMID:20052764|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25503501|PMID:25525159|PMID:25526469|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27153395|PMID:27168972|PMID:27488172|PMID:27888582|PMID:27964749|PMID:28035354|PMID:28087566|PMID:28166811|PMID:28492532|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29346445|PMID:29510914|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30793832|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:31719132|PMID:31833208|PMID:31903434|PMID:32483363|PMID:33087929|PMID:33282382|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:737225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:12131463|PMID:12488462|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19477391|PMID:20052764|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25503501|PMID:25525159|PMID:25526469|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27888582|PMID:27964749|PMID:28035354|PMID:28087566|PMID:28492532|PMID:28655553|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29346445|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30793832|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:31719132|PMID:31833208|PMID:31903434|PMID:32483363|PMID:33087929|PMID:33282382|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:737225 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:12131463|PMID:12488462|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19477391|PMID:20052764|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25503501|PMID:25525159|PMID:25526469|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27888582|PMID:27964749|PMID:28035354|PMID:28087566|PMID:28492532|PMID:28655553|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29346445|PMID:29485843|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30793832|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:31719132|PMID:31833208|PMID:31903434|PMID:32483363|PMID:33087929|PMID:33282382|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:14018 alcoholic liver cirrhosis ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:14323 Marfan syndrome ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:20648054|PMID:22696272|PMID:23587214|PMID:24922459|PMID:28492532 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:14756 vascular type Ehlers-Danlos syndrome ISO RGD:737225 D RGD:7240710 20180620 OMIM 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:14756 vascular type Ehlers-Danlos syndrome ISO RGD:737225 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, arterial type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, ecchymotic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome vascular type PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:12131463|PMID:12488462|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:20052764|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25503501|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26854089|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27888582|PMID:27964749|PMID:28035354|PMID:28087566|PMID:28492532|PMID:28655553|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29346445|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30793832|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:31719132|PMID:31903434|PMID:32483363|PMID:33087929|PMID:33282382|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8881656|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:14757 Ehlers-Danlos syndrome hypermobility type ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome, Hypermobility Type PMID:25741868|PMID:25758994|PMID:26854089|PMID:28087566|PMID:28492532|PMID:29590070|PMID:30087447|PMID:31075413|PMID:31531849 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:1826 epilepsy ISO RGD:737225 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:2018 hyperinsulinism ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20836762 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:3627 aortic aneurysm ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm PMID:24055113|PMID:25637381|PMID:25741868|PMID:28492532 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:3770 pulmonary fibrosis ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26817844 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:3770 pulmonary fibrosis disease_progression ISO RGD:732584 D RGD:9068941 20200619 RGD associated with Middle East respiratory syndrome; PMID:31838832|REF_RGD_ID:30309204 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:409 liver disease ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11738102 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:418 systemic scleroderma ISO RGD:732584 D RGD:9068941 20220825 MouseDO OMIM:181750 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:4195 hyperglycemia ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20836762 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:5082 liver cirrhosis ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11167689|PMID:15787813|PMID:16679477|PMID:1880254|PMID:2566230 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:5199 ureteral obstruction ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17164399 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:520 aortic disease ISO RGD:737225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:10706896|PMID:18272325|PMID:19344236|PMID:24033266|PMID:24922459|PMID:25741868|PMID:25758994|PMID:28492532|PMID:7695699|PMID:8218237 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:5419 schizophrenia ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:57 aortic valve insufficiency ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:5844 myocardial infarction treatment ISO RGD:71029 D RGD:9068941 20200609 RGD PMID:25636075|REF_RGD_ID:11041598 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:630 genetic disease ISO RGD:737225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1556139|PMID:16199547|PMID:17576681|PMID:24922459|PMID:25741868|PMID:27153395|PMID:28492532|PMID:30379966|PMID:9536098 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:65 connective tissue disease ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:2049575|PMID:21086191|PMID:21984974|PMID:22001912|PMID:24033266|PMID:24036952|PMID:24055113|PMID:25637381|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:26017485|PMID:26332594|PMID:27011056|PMID:27888582|PMID:27964749|PMID:28492532|PMID:28748566|PMID:30115950|PMID:30374176 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:783 end stage renal disease ISO RGD:737225 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.I1205V (human) PMID:19424605|REF_RGD_ID:7257553 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:9000058 Keloid ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:9000784 Fibrosis ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20388698 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:9000808 Hypercholesterolemia ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21852083 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:9000950 Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome ISO RGD:737225 D RGD:7240710 20190315 OMIM 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:9000950 Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome ISO RGD:737225 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type ehlers-danlos syndrome PMID:11577371|PMID:12131463|PMID:17576681|PMID:18272325|PMID:19344236|PMID:19455184|PMID:2049575|PMID:21086191|PMID:21984974|PMID:2235526|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24922459|PMID:25205403|PMID:25637381|PMID:25741868|PMID:25758994|PMID:25834947|PMID:25846194|PMID:26017485|PMID:26332594|PMID:27011056|PMID:27964749|PMID:28258187|PMID:28492532|PMID:28742248|PMID:28748566|PMID:29192238|PMID:29650765|PMID:30374176|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31719132|PMID:7695699|PMID:8218237|PMID:9050868|PMID:9536098 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:9000955 Acute Otitis Media ISO RGD:8821097 D RGD:9068941 20200609 RGD PMID:10453785|REF_RGD_ID:11556224 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:9001287 Ehlers-Danlos Syndrome Type 4 ISO RGD:737225 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 PMID:10051163|PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:11577371|PMID:12131463|PMID:12488462|PMID:12694234|PMID:12786757|PMID:1352273|PMID:1357232|PMID:1370809|PMID:1496983|PMID:1556139|PMID:1568754|PMID:1619632|PMID:16199547|PMID:1672129|PMID:16751282|PMID:16863833|PMID:17053184|PMID:17122455|PMID:17224388|PMID:17251678|PMID:17576681|PMID:1757960|PMID:18043893|PMID:18272325|PMID:1895316|PMID:19011090|PMID:19248182|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19695909|PMID:1998337|PMID:19993915|PMID:2002056|PMID:20052764|PMID:2049575|PMID:20518783|PMID:20648054|PMID:21086191|PMID:2145268|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22038052|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22610159|PMID:22647446|PMID:22696272|PMID:22713205|PMID:23148498|PMID:23234825|PMID:23293852|PMID:2349939|PMID:23587214|PMID:2365710|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:2492273|PMID:24932165|PMID:24951259|PMID:25149929|PMID:25205403|PMID:25326637|PMID:25355833|PMID:25503501|PMID:25525159|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:2583342|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26497932|PMID:26854089|PMID:27011056|PMID:2710295|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27611364|PMID:2771024|PMID:27888582|PMID:27964749|PMID:28035354|PMID:2808425|PMID:28087566|PMID:28166811|PMID:28258187|PMID:2834369|PMID:28349240|PMID:28492532|PMID:28655553|PMID:28742248|PMID:28748566|PMID:29192238|PMID:29216800|PMID:29309923|PMID:29346445|PMID:29381997|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:2981879|PMID:29907982|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30675029|PMID:3076851|PMID:30793832|PMID:30837697|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:3162228|PMID:31719132|PMID:31903434|PMID:3204406|PMID:32483363|PMID:33087929|PMID:33282382|PMID:34047934|PMID:6477831|PMID:6507506|PMID:7230200|PMID:7581395|PMID:7665911|PMID:7695699|PMID:7749417|PMID:7912131|PMID:8098182|PMID:8218237|PMID:8320698|PMID:8477261|PMID:8514866|PMID:8664902|PMID:8680408|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9147870|PMID:9399899|PMID:9536098|PMID:9546243|PMID:9841712 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:9001528 ARTERIAL DISSECTION ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arterial dissection PMID:17576681|PMID:28166811|PMID:28492532|PMID:9536098 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11788567|PMID:25380136 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:9001665 Aneurysm ISO RGD:737225 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS20+1G>A (human) PMID:2349939|REF_RGD_ID:1300382 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:9003139 Cardiac Fibrosis ISO RGD:71029 D RGD:9068941 20230225 RGD protein:increased expression:blood serum (rat) PMID:27318893|REF_RGD_ID:156430318 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:9004283 Transplant Rejection ISO RGD:737225 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:20150539|REF_RGD_ID:7248773 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:9004563 Maxillofacial Abnormalities ISO RGD:71029 D RGD:9068941 20200609 RGD PMID:10373016|REF_RGD_ID:704391 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181017 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:9005890 Disproportionate Tall Stature ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disproportionate tall stature 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:9006325 Ventral Hernia treatment ISO RGD:71029 D RGD:9068941 20200609 RGD PMID:26578432|REF_RGD_ID:11041579 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:9006827 Lung Reperfusion Injury ISO RGD:732584 D RGD:9068941 20220915 RGD mRNA:increased expression:lung (mouse) PMID:34238924|REF_RGD_ID:153350155 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:9006836 Contracture treatment ISO RGD:71029 D RGD:9068941 20200609 RGD PMID:26097527|REF_RGD_ID:11041578 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16679477 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:737225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AAT1 PMID:19344236|PMID:24922459|PMID:25758994|PMID:28492532|PMID:7695699|PMID:8218237 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:9009005 Familial Thoracic Aortic Aneurysm 2 ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:9352 type 2 diabetes mellitus ISO RGD:71029 D RGD:9068941 20200609 RGD PMID:20836762|REF_RGD_ID:7257556 11984455 COL3A1 collagen type III alpha 1 chain gene DOID:9452 fatty liver disease ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15787813 11984510 ITGA3 integrin subunit alpha 3 gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:1321177 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:23949819|PMID:25944380|PMID:26478226|PMID:28492532|PMID:7942841|PMID:9295084|PMID:9443882 11984510 ITGA3 integrin subunit alpha 3 gene DOID:11162 respiratory failure ISO RGD:1321177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Respiratory failure PMID:25741868 11984510 ITGA3 integrin subunit alpha 3 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:1321177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bronchopulmonary dysplasia PMID:25741868 11984510 ITGA3 integrin subunit alpha 3 gene DOID:1184 nephrotic syndrome ISO RGD:1321177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:22512483|PMID:29127259 11984510 ITGA3 integrin subunit alpha 3 gene DOID:2355 anemia ISO RGD:1321177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia PMID:25741868 11984510 ITGA3 integrin subunit alpha 3 gene DOID:2712 phimosis ISO RGD:1321177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phimosis PMID:25741868 11984510 ITGA3 integrin subunit alpha 3 gene DOID:2921 glomerulonephritis ISO RGD:1310333 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus (rat) PMID:19662603|REF_RGD_ID:2325666 11984510 ITGA3 integrin subunit alpha 3 gene DOID:5844 myocardial infarction ISO RGD:1310333 D RGD:9068941 20200609 RGD protein:increased expression:myocardium (rat) PMID:19041328|REF_RGD_ID:2325287 11984510 ITGA3 integrin subunit alpha 3 gene DOID:630 genetic disease ISO RGD:1321177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11984510 ITGA3 integrin subunit alpha 3 gene DOID:8534 gastroesophageal reflux disease ISO RGD:1321177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastroesophageal reflux PMID:25741868 11984510 ITGA3 integrin subunit alpha 3 gene DOID:9002211 Hyperalgesia ISO RGD:1310333 D RGD:9068941 20200609 RGD PMID:14984413|REF_RGD_ID:2302389 11984510 ITGA3 integrin subunit alpha 3 gene DOID:9002211 Hyperalgesia ISO RGD:1310333 D RGD:9068941 20200609 RGD knock-down using a specific monoclonal antibody or RNAi PMID:15836982|REF_RGD_ID:2302139 11984510 ITGA3 integrin subunit alpha 3 gene DOID:9003936 Cardiomegaly ISO RGD:1310333 D RGD:9068941 20200609 RGD protein:increased expression:cardiac myocyte (rat) PMID:1835909|REF_RGD_ID:2325829 11984510 ITGA3 integrin subunit alpha 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1310333 D RGD:9068941 20200609 RGD protein:decreased expression:renal cortex (rat) PMID:20525748|REF_RGD_ID:2325818 11984510 ITGA3 integrin subunit alpha 3 gene DOID:9006333 Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome ISO RGD:1321177 D RGD:7240710 20180130 OMIM 11984510 ITGA3 integrin subunit alpha 3 gene DOID:9006333 Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome ISO RGD:1321177 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 7, WITH INTERSTITIAL LUNG DISEASE AND NEPHROTIC SYNDROME | ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital PMID:22512483|PMID:24088041|PMID:25741868|PMID:25810266|PMID:26633545|PMID:28492532|PMID:29127259 11984510 ITGA3 integrin subunit alpha 3 gene DOID:9007356 Eczema ISO RGD:1321177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Eczema PMID:25741868 11984510 ITGA3 integrin subunit alpha 3 gene DOID:9007764 Penoscrotal Transposition ISO RGD:1321177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital transposition of the penis PMID:25741868 11984544 LOC100993994 olfactory receptor 7G1 gene DOID:12849 autistic disorder ISO RGD:1350658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11984544 LOC100993994 olfactory receptor 7G1 gene DOID:630 genetic disease ISO RGD:1350658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11984548 CAT catalase gene DOID:0002116 pterygium ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased activity:conjunctiva PMID:18987486|REF_RGD_ID:9068921 11984548 CAT catalase gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26074427 11984548 CAT catalase gene DOID:0050700 cardiomyopathy ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11800590 11984548 CAT catalase gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 11984548 CAT catalase gene DOID:0050853 chronic venous insufficiency ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:plasma: PMID:23182154|REF_RGD_ID:9479068 11984548 CAT catalase gene DOID:0060071 pre-malignant neoplasm ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14580687 11984548 CAT catalase gene DOID:0060180 colitis ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:21463646|REF_RGD_ID:5130869 11984548 CAT catalase gene DOID:0080199 colorectal carcinoma treatment ISO RGD:2279 D RGD:9068941 20210611 RGD PMID:29229353|REF_RGD_ID:127284843 11984548 CAT catalase gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29718361 11984548 CAT catalase gene DOID:0080600 COVID-19 ISO RGD:732740 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11984548 CAT catalase gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:737448 D RGD:9068941 20200609 RGD PMID:21557843|REF_RGD_ID:7205663 11984548 CAT catalase gene DOID:0081120 Graves ophthalmopathy ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:blood: PMID:20394549|REF_RGD_ID:9071200 11984548 CAT catalase gene DOID:0081120 Graves ophthalmopathy treatment ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased activity:plasma: PMID:15158621|REF_RGD_ID:9086875 11984548 CAT catalase gene DOID:10003 sensorineural hearing loss ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:15109710|REF_RGD_ID:8547516 11984548 CAT catalase gene DOID:10247 pleurisy ISO RGD:737448 D RGD:9068941 20200609 RGD PMID:19778612|REF_RGD_ID:5130749 11984548 CAT catalase gene DOID:10300 Raynaud disease treatment ISO RGD:732740 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;protein:decreased activity:serum: PMID:17401513|REF_RGD_ID:9479162 11984548 CAT catalase gene DOID:10316 pneumoconiosis ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:19273541|REF_RGD_ID:5130756 11984548 CAT catalase gene DOID:10584 retinitis pigmentosa ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:19293779|REF_RGD_ID:8158049 11984548 CAT catalase gene DOID:1059 intellectual disability ISO RGD:732740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11984548 CAT catalase gene DOID:10754 otitis media treatment ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased activity:cochlea,serum: PMID:22173336|REF_RGD_ID:7401215 11984548 CAT catalase gene DOID:10763 hypertension ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:16716903|REF_RGD_ID:1580833 11984548 CAT catalase gene DOID:10763 hypertension ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11479740|PMID:20667508|PMID:21593737|PMID:22228705 11984548 CAT catalase gene DOID:10808 gastric ulcer ISO RGD:2279 D RGD:9068941 20200609 RGD protein:increased expression:stomach PMID:17895592|REF_RGD_ID:5130860 11984548 CAT catalase gene DOID:10808 gastric ulcer ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1887894 11984548 CAT catalase gene DOID:10825 essential hypertension ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:15735318|REF_RGD_ID:1581147 11984548 CAT catalase gene DOID:11054 urinary bladder cancer ISO RGD:732740 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 11984548 CAT catalase gene DOID:11088 asphyxia neonatorum ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963755 11984548 CAT catalase gene DOID:11396 pulmonary edema ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15612528 11984548 CAT catalase gene DOID:11446 sciatic neuropathy ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased activity:sciatic nerve, spinal cord, dorsal root ganglion: PMID:19675389|REF_RGD_ID:9479064 11984548 CAT catalase gene DOID:11650 bronchopulmonary dysplasia ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:19693467|REF_RGD_ID:5130750 11984548 CAT catalase gene DOID:1210 optic neuritis treatment ISO RGD:732740 D RGD:9068941 20200609 RGD associated with Encephalomyelitis, Autoimmune, Experimental; PMID:18055782|REF_RGD_ID:9068881 11984548 CAT catalase gene DOID:1214 tympanosclerosis ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased activity:erythrocyte: PMID:14710000|REF_RGD_ID:9479056 11984548 CAT catalase gene DOID:12306 vitiligo ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:skin: PMID:19439879|REF_RGD_ID:9479169 11984548 CAT catalase gene DOID:12306 vitiligo no_association ISO RGD:732740 D RGD:9068941 20200609 RGD DNA:SNPs:promoter,exon: -89A>T rs7943316), 389C>T (rs769217)(human) PMID:23868633|REF_RGD_ID:9479150 11984548 CAT catalase gene DOID:12306 vitiligo susceptibility ISO RGD:732740 D RGD:9068941 20200609 RGD DNA:SNP,haplotype:promoter,cds:-89A>T,389C>T(human) PMID:20613769|REF_RGD_ID:9479149 11984548 CAT catalase gene DOID:12361 Graves' disease treatment ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:erythrocyte: PMID:12919155|REF_RGD_ID:9068908 11984548 CAT catalase gene DOID:12716 newborn respiratory distress syndrome susceptibility ISO RGD:732740 D RGD:9068941 20200609 RGD DNA:haplotype: : PMID:22574884|REF_RGD_ID:8655661 11984548 CAT catalase gene DOID:12849 autistic disorder ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15205966 11984548 CAT catalase gene DOID:12858 Huntington's disease ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:19445928|REF_RGD_ID:5130752 11984548 CAT catalase gene DOID:1289 neurodegenerative disease treatment ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:26208597|REF_RGD_ID:11557995 11984548 CAT catalase gene DOID:12930 dilated cardiomyopathy ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:10652196|REF_RGD_ID:1581150 11984548 CAT catalase gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:737448 D RGD:9068941 20200609 RGD PMID:22443450|REF_RGD_ID:7205647 11984548 CAT catalase gene DOID:13207 proliferative diabetic retinopathy ISO RGD:732740 D RGD:9068941 20200609 RGD associated withDiabetes Mellitus, Type 2; mRNA,protein:decreased expression, decreased activity:blood,l serum: PMID:24092995|REF_RGD_ID:9068931 11984548 CAT catalase gene DOID:13208 background diabetic retinopathy ISO RGD:732740 D RGD:9068941 20200609 RGD associated withDiabetes Mellitus, Type 2; mRNA,protein:decreased expression, decreased activity:blood,l serum: PMID:24092995|REF_RGD_ID:9068931 11984548 CAT catalase gene DOID:13241 Behcet's disease ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12074830 11984548 CAT catalase gene DOID:13241 Behcet's disease ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:erythrocyte: PMID:17206395|REF_RGD_ID:9068907 11984548 CAT catalase gene DOID:13550 angle-closure glaucoma severity ISO RGD:732740 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.4760C>T(rs1001179)(human) PMID:23961996|REF_RGD_ID:9068947 11984548 CAT catalase gene DOID:13580 cholestasis ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:21339256|REF_RGD_ID:5130873 11984548 CAT catalase gene DOID:13580 cholestasis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 11984548 CAT catalase gene DOID:14018 alcoholic liver cirrhosis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 11984548 CAT catalase gene DOID:14323 Marfan syndrome ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 11984548 CAT catalase gene DOID:14566 disease of cellular proliferation ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21854796 11984548 CAT catalase gene DOID:1459 hypothyroidism treatment ISO RGD:2279 D RGD:9068941 20200903 RGD PMID:29896255|REF_RGD_ID:38549578 11984548 CAT catalase gene DOID:1470 major depressive disorder ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20471444 11984548 CAT catalase gene DOID:1596 depressive disorder ISO RGD:732740 D RGD:9068941 20210528 RGD associated with gastric adenocarcinoma; protein:decreased expression:blood serum (human) PMID:31396300|REF_RGD_ID:126908003 11984548 CAT catalase gene DOID:161 keratosis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14580687 11984548 CAT catalase gene DOID:161 keratosis susceptibility ISO RGD:732740 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-262C>T(rs1001179)(human) PMID:14580687|REF_RGD_ID:9479152 11984548 CAT catalase gene DOID:1679 cystitis ISO RGD:2279 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder PMID:26109091|REF_RGD_ID:11035303 11984548 CAT catalase gene DOID:1793 pancreatic cancer disease_progression ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:12499913|REF_RGD_ID:2317410 11984548 CAT catalase gene DOID:1824 status epilepticus ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15245787|PMID:15752349|PMID:17383094|PMID:18096215 11984548 CAT catalase gene DOID:1909 melanoma ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased activity:melanocyte: PMID:9758419|REF_RGD_ID:9479151 11984548 CAT catalase gene DOID:1909 melanoma ISO RGD:737448 D RGD:9068941 20200609 RGD protein:increased activity:multiple: PMID:15224238|REF_RGD_ID:9479742 11984548 CAT catalase gene DOID:2237 hepatitis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1937386 11984548 CAT catalase gene DOID:2316 brain ischemia ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:21213399|REF_RGD_ID:5130891 11984548 CAT catalase gene DOID:2316 brain ischemia ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17564305 11984548 CAT catalase gene DOID:2527 nephrosis ISO RGD:732740 D RGD:9068941 20200609 RGD mRNA: decreased expression: glomerulus PMID:20685819|REF_RGD_ID:7205671 11984548 CAT catalase gene DOID:2582 acatalasia ISO RGD:732740 D RGD:7240710 20180130 OMIM 11984548 CAT catalase gene DOID:2582 acatalasia ISO RGD:732740 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Acatalasemia, japanese type | ClinVar Annotator: match by term: Acatalasia PMID:11197178|PMID:1551654|PMID:2308162|PMID:25741868|PMID:28492532|PMID:8673475 11984548 CAT catalase gene DOID:2738 pseudoxanthoma elasticum onset ISO RGD:732740 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c.-262C>T(rs1001179)(human) PMID:17693525|REF_RGD_ID:8547520 11984548 CAT catalase gene DOID:2841 asthma ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18048809 11984548 CAT catalase gene DOID:2841 asthma ISO RGD:732740 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-21A>T (human) PMID:19373626|REF_RGD_ID:5130753 11984548 CAT catalase gene DOID:2841 asthma ISO RGD:732740 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-262C>T (human) PMID:18048809|REF_RGD_ID:5130856 11984548 CAT catalase gene DOID:2841 asthma ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:respiratory system fluid/secretion PMID:16622028|REF_RGD_ID:5130867 11984548 CAT catalase gene DOID:2841 asthma ISO RGD:737448 D RGD:9068941 20200609 RGD protein:decreased activity PMID:16622028|REF_RGD_ID:5130867 11984548 CAT catalase gene DOID:2841 asthma severity ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased expression:erythrocyte PMID:19475625|REF_RGD_ID:5130751 11984548 CAT catalase gene DOID:2876 laryngeal squamous cell carcinoma ISO RGD:732740 D RGD:9068941 20220610 RGD protein:increased activity:larynx PMID:8138195|REF_RGD_ID:152995273 11984548 CAT catalase gene DOID:2987 familial Mediterranean fever disease_progression ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:22135646|REF_RGD_ID:9480233 11984548 CAT catalase gene DOID:3070 high grade glioma ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21138464 11984548 CAT catalase gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:20080081|REF_RGD_ID:4293707 11984548 CAT catalase gene DOID:3458 breast adenocarcinoma ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:25050522|REF_RGD_ID:9226881 11984548 CAT catalase gene DOID:3491 Turner syndrome ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 11984548 CAT catalase gene DOID:3602 toxic encephalopathy ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased activity:serum: PMID:16938375|REF_RGD_ID:9068882 11984548 CAT catalase gene DOID:3717 gastric adenocarcinoma ISO RGD:732740 D RGD:9068941 20210507 RGD protein:decreased expression:blood serum (human) PMID:31396300|REF_RGD_ID:126908003 11984548 CAT catalase gene DOID:3770 pulmonary fibrosis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19684199 11984548 CAT catalase gene DOID:3770 pulmonary fibrosis ISO RGD:732740 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung PMID:21190578|REF_RGD_ID:5130199 11984548 CAT catalase gene DOID:3908 lung non-small cell carcinoma ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11731445 11984548 CAT catalase gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased activity:plasma: PMID:20204550|REF_RGD_ID:9068926 11984548 CAT catalase gene DOID:4481 allergic rhinitis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29028686 11984548 CAT catalase gene DOID:4483 rhinitis treatment ISO RGD:737448 D RGD:9068941 20200609 RGD protein:increased activity:blood,nasal cavity mucosa: PMID:21541033|REF_RGD_ID:9479054 11984548 CAT catalase gene DOID:5199 ureteral obstruction ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:21305585|REF_RGD_ID:5130876 11984548 CAT catalase gene DOID:520 aortic disease ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 11984548 CAT catalase gene DOID:5679 retinal disease treatment ISO RGD:2279 D RGD:9068941 20200609 RGD associated with radiation injuries;protein:decreased activity:retina: PMID:17514533|REF_RGD_ID:9107626 11984548 CAT catalase gene DOID:5844 myocardial infarction ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:14575298|REF_RGD_ID:1581148 11984548 CAT catalase gene DOID:5844 myocardial infarction ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21600015 11984548 CAT catalase gene DOID:591 phobic disorder ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15309392 11984548 CAT catalase gene DOID:6000 congestive heart failure ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16105639 11984548 CAT catalase gene DOID:6000 congestive heart failure ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:10618301|REF_RGD_ID:1581151 11984548 CAT catalase gene DOID:630 genetic disease ISO RGD:732740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11984548 CAT catalase gene DOID:631 fibromyalgia ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:mononuclear cell: PMID:22532869|REF_RGD_ID:9479066 11984548 CAT catalase gene DOID:6543 acne ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:blood: PMID:16489259|REF_RGD_ID:9479167 11984548 CAT catalase gene DOID:6543 acne ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased activity:leukocyte: PMID:11349462|REF_RGD_ID:9479168 11984548 CAT catalase gene DOID:6543 acne severity ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:23174057|REF_RGD_ID:9479743 11984548 CAT catalase gene DOID:684 hepatocellular carcinoma ISO RGD:732740 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 11984548 CAT catalase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:732740 D RGD:9068941 20200609 RGD associated with liver cirrhosis with Hepatitis C;DNA:SNP:promoter:-262T>C (human) PMID:21907168|REF_RGD_ID:27095879 11984548 CAT catalase gene DOID:7148 rheumatoid arthritis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22450443 11984548 CAT catalase gene DOID:783 end stage renal disease ISO RGD:2279 D RGD:9068941 20200609 RGD protein: decreased expression :kidney PMID:20007347|REF_RGD_ID:6892947 11984548 CAT catalase gene DOID:783 end stage renal disease ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16518626|PMID:19420110 11984548 CAT catalase gene DOID:7998 hyperthyroidism ISO RGD:2279 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver: PMID:19914224|REF_RGD_ID:9068475 11984548 CAT catalase gene DOID:7998 hyperthyroidism ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23391542 11984548 CAT catalase gene DOID:8295 scabies treatment ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:17884035|REF_RGD_ID:9479747 11984548 CAT catalase gene DOID:83 cataract ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:erythrocyte: PMID:15295623|REF_RGD_ID:9068905 11984548 CAT catalase gene DOID:83 cataract no_association ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:11408722|REF_RGD_ID:9068911 11984548 CAT catalase gene DOID:83 cataract treatment ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased activity:lens: PMID:21635889|REF_RGD_ID:9068909 11984548 CAT catalase gene DOID:850 lung disease ISO RGD:2279 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:20534640|REF_RGD_ID:5130202 11984548 CAT catalase gene DOID:850 lung disease ISO RGD:2279 D RGD:9068941 20200609 RGD Lung Injury PMID:18793622|REF_RGD_ID:5130773 11984548 CAT catalase gene DOID:850 lung disease ISO RGD:2279 D RGD:9068941 20200609 RGD Lung Injury associated with Hyperoxia PMID:19895324|REF_RGD_ID:5130747 11984548 CAT catalase gene DOID:850 lung disease ISO RGD:732740 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-330G>A (rs1001179) (human) PMID:19897513|REF_RGD_ID:5130745 11984548 CAT catalase gene DOID:850 lung disease ISO RGD:737448 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:19151196|REF_RGD_ID:5130768 11984548 CAT catalase gene DOID:850 lung disease ISO RGD:737448 D RGD:9068941 20200609 RGD Lung Injury;protein:decreased expression:lung PMID:21190578|REF_RGD_ID:5130199 11984548 CAT catalase gene DOID:874 bacterial pneumonia ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased expression:lung, plasma PMID:19842849|REF_RGD_ID:5130748 11984548 CAT catalase gene DOID:8741 seborrheic dermatitis ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased activity:scalp: PMID:24001414|REF_RGD_ID:9479166 11984548 CAT catalase gene DOID:8893 psoriasis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12559600 11984548 CAT catalase gene DOID:8893 psoriasis ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased activity:serum: PMID:12602965|REF_RGD_ID:9479159 11984548 CAT catalase gene DOID:8893 psoriasis treatment ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:skin: PMID:12165738|REF_RGD_ID:9479170 11984548 CAT catalase gene DOID:8893 psoriasis treatment ISO RGD:737448 D RGD:9068941 20200609 RGD protein:decreased activity:liver: PMID:24018880|REF_RGD_ID:9479744 11984548 CAT catalase gene DOID:8947 diabetic retinopathy ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:21314438|REF_RGD_ID:5130875 11984548 CAT catalase gene DOID:9000197 Edema ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19874808 11984548 CAT catalase gene DOID:9000307 Presbycusis ISO RGD:737448 D RGD:9068941 20200609 RGD PMID:11678164|REF_RGD_ID:8655636 11984548 CAT catalase gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:732740 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 11984548 CAT catalase gene DOID:9000564 Prehypertension susceptibility ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:23096233|REF_RGD_ID:9068479 11984548 CAT catalase gene DOID:9000918 Disease Progression ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10673208|PMID:11283936|PMID:16081686 11984548 CAT catalase gene DOID:9000965 Neoplasm Metastasis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12538496|PMID:22580338|PMID:23518002 11984548 CAT catalase gene DOID:9001472 Nasal Polyps ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased activity:nasal concha: PMID:16287205|REF_RGD_ID:9479048 11984548 CAT catalase gene DOID:9001488 Human Influenza ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:19959187|REF_RGD_ID:5130744 11984548 CAT catalase gene DOID:9001488 Human Influenza ISO RGD:737448 D RGD:9068941 20200609 RGD PMID:16804020|PMID:20653246|REF_RGD_ID:5130201|REF_RGD_ID:5130864 11984548 CAT catalase gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased expression,decreased activity:retina: PMID:22509733|REF_RGD_ID:9068919 11984548 CAT catalase gene DOID:9002165 Diabetic Nephropathies ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:21525431|REF_RGD_ID:7205665 11984548 CAT catalase gene DOID:9002165 Diabetic Nephropathies ISO RGD:2279 D RGD:9068941 20200609 RGD associated with experimentally induced diabetes PMID:21686137|REF_RGD_ID:7205662 11984548 CAT catalase gene DOID:9002165 Diabetic Nephropathies ISO RGD:2279 D RGD:9068941 20200609 RGD rat gene in db/db mice PMID:20299359|REF_RGD_ID:7205676 11984548 CAT catalase gene DOID:9002165 Diabetic Nephropathies ISO RGD:737448 D RGD:9068941 20200609 RGD PMID:22315314|REF_RGD_ID:7205651 11984548 CAT catalase gene DOID:9002211 Hyperalgesia treatment ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:23658840|PMID:23952340|REF_RGD_ID:9479063|REF_RGD_ID:9479069 11984548 CAT catalase gene DOID:9002315 Kidney Calculi ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24360074 11984548 CAT catalase gene DOID:9002371 Cardiotoxicity ISO RGD:732740 D RGD:9068941 20221208 CTD CTD Direct Evidence: therapeutic PMID:35792220 11984548 CAT catalase gene DOID:9002457 Experimental Arthritis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22450443 11984548 CAT catalase gene DOID:9002910 Hearing Loss, Noise-Induced severity ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:18212468|REF_RGD_ID:9190810 11984548 CAT catalase gene DOID:9002910 Hearing Loss, Noise-Induced susceptibility ISO RGD:732740 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype:: PMID:17567781|REF_RGD_ID:9068906 11984548 CAT catalase gene DOID:9002910 Hearing Loss, Noise-Induced treatment ISO RGD:737448 D RGD:9068941 20200609 RGD PMID:23179931|REF_RGD_ID:9068923 11984548 CAT catalase gene DOID:9003049 Femur Head Necrosis susceptibility ISO RGD:732740 D RGD:9068941 20200609 RGD DNA:SNPs:multiple: PMID:18353692|REF_RGD_ID:9479160 11984548 CAT catalase gene DOID:9003106 Renoprival Hypertension ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:22733796|REF_RGD_ID:7206853 11984548 CAT catalase gene DOID:9003507 Premature Birth ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26055944 11984548 CAT catalase gene DOID:9003566 Mesothelioma ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11283936 11984548 CAT catalase gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:20493834|REF_RGD_ID:5130771 11984548 CAT catalase gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:21978706|REF_RGD_ID:9068474 11984548 CAT catalase gene DOID:9004009 Reperfusion Injury ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:19196076|PMID:20888583|REF_RGD_ID:5130200|REF_RGD_ID:5130760 11984548 CAT catalase gene DOID:9004009 Reperfusion Injury ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16682413|PMID:23743330|PMID:23875703|PMID:8215636 11984548 CAT catalase gene DOID:9004062 Hyperhidrosis ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:erythrocyte: PMID:16718367|REF_RGD_ID:9479745 11984548 CAT catalase gene DOID:9004203 Chromosome Breakage ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25172298 11984548 CAT catalase gene DOID:9004464 Skin Neoplasms disease_progression ISO RGD:737448 D RGD:9068941 20200609 RGD PMID:1747937|REF_RGD_ID:9479155 11984548 CAT catalase gene DOID:9004464 Skin Neoplasms treatment ISO RGD:737448 D RGD:9068941 20200609 RGD PMID:21517247|REF_RGD_ID:9479189 11984548 CAT catalase gene DOID:9004484 Sepsis severity ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:15836852|REF_RGD_ID:9068893 11984548 CAT catalase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21749277|PMID:22580338 11984548 CAT catalase gene DOID:9004610 Acute Lung Injury ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15612528 11984548 CAT catalase gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased expression:heart left ventricle PMID:19298531|REF_RGD_ID:5130755 11984548 CAT catalase gene DOID:9004673 Hearing Loss, Cisplatin-Induced ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased expression:cochlear: PMID:10220857|REF_RGD_ID:9197256 11984548 CAT catalase gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17227729 11984548 CAT catalase gene DOID:9004989 Protein Deficiency ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15865262 11984548 CAT catalase gene DOID:9005452 Ureteral Calculi ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24360074 11984548 CAT catalase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:20376213|REF_RGD_ID:5130772 11984548 CAT catalase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12123627|PMID:15855331|PMID:20709041 11984548 CAT catalase gene DOID:9005749 Necrosis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17309078|PMID:9548797 11984548 CAT catalase gene DOID:9006024 Hypotension ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15612528 11984548 CAT catalase gene DOID:9006928 Viral Bronchiolitis ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased expression:nasal mucus PMID:21471094|REF_RGD_ID:5130770 11984548 CAT catalase gene DOID:9006928 Viral Bronchiolitis ISO RGD:737448 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:21471094|REF_RGD_ID:5130770 11984548 CAT catalase gene DOID:9007355 Hashimoto Disease ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased activity:plasma: PMID:20204550|REF_RGD_ID:9068926 11984548 CAT catalase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:21138988|REF_RGD_ID:7241599 11984548 CAT catalase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750|PMID:25231249 11984548 CAT catalase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20516118|PMID:21742780|PMID:23518002|PMID:25448439|PMID:27323401|PMID:28881718 11984548 CAT catalase gene DOID:9007692 Insulin Resistance ISO RGD:732740 D RGD:9068941 20200609 RGD associated with Obesity PMID:19188683|REF_RGD_ID:5130761 11984548 CAT catalase gene DOID:9007828 Abnormalities, Drug-Induced ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21252394|PMID:26074427 11984548 CAT catalase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:11510883|REF_RGD_ID:1581149 11984548 CAT catalase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21600015 11984548 CAT catalase gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19109989 11984548 CAT catalase gene DOID:9008510 Chronic Hepatitis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 11984548 CAT catalase gene DOID:9008939 Breast Neoplasms ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25322848 11984548 CAT catalase gene DOID:9009039 Hyperemia ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10792963 11984548 CAT catalase gene DOID:9074 systemic lupus erythematosus ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27497885 11984548 CAT catalase gene DOID:9111 cutaneous leishmaniasis ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:erythrocyte: PMID:9892499|REF_RGD_ID:9479188 11984548 CAT catalase gene DOID:9182 pemphigus ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased activities:skin: PMID:22738420|REF_RGD_ID:9479165 11984548 CAT catalase gene DOID:9201 lichen planus ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:erythrocyte: PMID:20372767|REF_RGD_ID:9479158 11984548 CAT catalase gene DOID:9281 phenylketonuria ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased activity:brain: PMID:23232760|REF_RGD_ID:9068874 11984548 CAT catalase gene DOID:9351 diabetes mellitus ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11117918 11984548 CAT catalase gene DOID:9352 type 2 diabetes mellitus ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15111504|PMID:15531508 11984548 CAT catalase gene DOID:9352 type 2 diabetes mellitus ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:plasma: PMID:12357295|REF_RGD_ID:9068922 11984548 CAT catalase gene DOID:9452 fatty liver disease ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:21452373|REF_RGD_ID:5130871 11984548 CAT catalase gene DOID:9452 fatty liver disease ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10860543 11984548 CAT catalase gene DOID:9477 pulmonary embolism ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2510358 11984548 CAT catalase gene DOID:9637 stomatitis ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:10569634|REF_RGD_ID:5130878 11984548 CAT catalase gene DOID:9669 senile cataract ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:serum: PMID:23781296|REF_RGD_ID:9068934 11984548 CAT catalase gene DOID:9669 senile cataract treatment ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:16129095|REF_RGD_ID:10003112 11984548 CAT catalase gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:vitreous humor: PMID:10450379|REF_RGD_ID:9068932 11984548 CAT catalase gene DOID:9743 diabetic neuropathy ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10780678 11984548 CAT catalase gene DOID:9744 type 1 diabetes mellitus ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15111504 11984565 CASQ1 calsequestrin 1 gene DOID:0060178 familial hemiplegic migraine ISO RGD:1344349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 11984565 CASQ1 calsequestrin 1 gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:1344349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) PMID:28492532 11984565 CASQ1 calsequestrin 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1344349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11984565 CASQ1 calsequestrin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1344349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11984565 CASQ1 calsequestrin 1 gene DOID:423 myopathy ISO RGD:1344349 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 11984565 CASQ1 calsequestrin 1 gene DOID:630 genetic disease ISO RGD:1344349 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11984565 CASQ1 calsequestrin 1 gene DOID:9005189 Vacuolar Myopathy ISO RGD:1344349 D RGD:7240710 20180130 OMIM 11984565 CASQ1 calsequestrin 1 gene DOID:9005189 Vacuolar Myopathy ISO RGD:1344349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, vacuolar, with casq1 aggregates PMID:16714317|PMID:25116801|PMID:25741868|PMID:26136523|PMID:26416891|PMID:28492532 11984565 CASQ1 calsequestrin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1586677 D RGD:9068941 20200609 RGD protein:increased activity:skeletal muscle tissue PMID:11976916|REF_RGD_ID:2314137 11984565 CASQ1 calsequestrin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11984565 CASQ1 calsequestrin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344349 D RGD:9068941 20200609 RGD DNA:SNP: :rs617698(human) PMID:18269685|REF_RGD_ID:2314133 11984565 CASQ1 calsequestrin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344349 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:15561962|PMID:15561963|REF_RGD_ID:2314135|REF_RGD_ID:2314136 11984565 CASQ1 calsequestrin 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1344349 D RGD:9068941 20200609 RGD DNA:SNP: :rs2275703(human) PMID:17681849|REF_RGD_ID:2314134 11984580 CNST consortin, connexin sorting protein gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1606946 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11984580 CNST consortin, connexin sorting protein gene DOID:1540 parathyroid carcinoma ISO RGD:1606946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11984580 CNST consortin, connexin sorting protein gene DOID:50 thyroid gland disease ISO RGD:1606946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 11984580 CNST consortin, connexin sorting protein gene DOID:630 genetic disease ISO RGD:1606946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11984580 CNST consortin, connexin sorting protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11984597 CALHM2 calcium homeostasis modulator family member 2 gene DOID:630 genetic disease ISO RGD:1317957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11984615 MXD3 MAX dimerization protein 3 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:734323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11984615 MXD3 MAX dimerization protein 3 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:734323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11984615 MXD3 MAX dimerization protein 3 gene DOID:0112103 Sotos syndrome 1 ISO RGD:734323 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 11984615 MXD3 MAX dimerization protein 3 gene DOID:630 genetic disease ISO RGD:734323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11984615 MXD3 MAX dimerization protein 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:734323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11984615 MXD3 MAX dimerization protein 3 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:734323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 11984673 ZC3H10 zinc finger CCCH-type containing 10 gene DOID:4195 hyperglycemia ISO RGD:1602996 D RGD:9068941 20210212 CTD CTD Direct Evidence: therapeutic PMID:31775033 11984673 ZC3H10 zinc finger CCCH-type containing 10 gene DOID:630 genetic disease ISO RGD:1602996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11984673 ZC3H10 zinc finger CCCH-type containing 10 gene DOID:9007692 Insulin Resistance ISO RGD:1602996 D RGD:9068941 20210212 CTD CTD Direct Evidence: therapeutic PMID:31775033 11984673 ZC3H10 zinc finger CCCH-type containing 10 gene DOID:9970 obesity ISO RGD:1602996 D RGD:9068941 20210212 CTD CTD Direct Evidence: therapeutic PMID:31775033 11984687 ZMAT5 zinc finger matrin-type 5 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1607019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 11984687 ZMAT5 zinc finger matrin-type 5 gene DOID:630 genetic disease ISO RGD:1607019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11984687 ZMAT5 zinc finger matrin-type 5 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1607019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:21876083|PMID:24713400|PMID:28492532 11984700 C6H6orf15 chromosome 6 C6orf15 homolog gene DOID:0050553 JMP syndrome ISO RGD:1348540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11984700 C6H6orf15 chromosome 6 C6orf15 homolog gene DOID:11372 megacolon ISO RGD:1348540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11984700 C6H6orf15 chromosome 6 C6orf15 homolog gene DOID:630 genetic disease ISO RGD:1348540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11984700 C6H6orf15 chromosome 6 C6orf15 homolog gene DOID:9002384 Peeling Skin Syndrome 1 ISO RGD:1348540 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peeling skin syndrome 1 PMID:31690835 11984710 THSD4 thrombospondin type 1 domain containing 4 gene DOID:2717 Bloom syndrome ISO RGD:1605622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11984710 THSD4 thrombospondin type 1 domain containing 4 gene DOID:303 substance-related disorder ISO RGD:1605622 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11984710 THSD4 thrombospondin type 1 domain containing 4 gene DOID:630 genetic disease ISO RGD:1605622 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11984710 THSD4 thrombospondin type 1 domain containing 4 gene DOID:9008628 Familial Thoracic Aortic Aneurysm 12 ISO RGD:1605622 D RGD:7240710 20220413 OMIM 11984710 THSD4 thrombospondin type 1 domain containing 4 gene DOID:9008628 Familial Thoracic Aortic Aneurysm 12 ISO RGD:1605622 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 12 PMID:25741868|PMID:32855533 11984710 THSD4 thrombospondin type 1 domain containing 4 gene DOID:9256 colorectal cancer ISO RGD:1605622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11984734 PRAMEF20 PRAME family member 20 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1626252 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11984734 PRAMEF20 PRAME family member 20 gene DOID:630 genetic disease ISO RGD:1626252 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11984746 ALKAL2 ALK and LTK ligand 2 gene DOID:630 genetic disease ISO RGD:1602961 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11984755 C9H9orf43 chromosome 9 C9orf43 homolog gene DOID:630 genetic disease ISO RGD:1345519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11984792 CAGE1 cancer antigen 1 gene DOID:630 genetic disease ISO RGD:1604175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11984816 RASD2 RASD family member 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1346276 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11984816 RASD2 RASD family member 2 gene DOID:630 genetic disease ISO RGD:1346276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11984829 BCCIP BRCA2 and CDKN1A interacting protein gene DOID:630 genetic disease ISO RGD:1316516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11984849 SIRT5 sirtuin 5 gene DOID:630 genetic disease ISO RGD:1351920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11984880 PPP4R2 protein phosphatase 4 regulatory subunit 2 gene DOID:630 genetic disease ISO RGD:1316433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11984893 CTR9 CTR9 homolog, Paf1/RNA polymerase II complex component gene DOID:0060476 Perlman syndrome ISO RGD:1322372 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Predisposition to Wilms tumor PMID:25099282|PMID:28492532 11984893 CTR9 CTR9 homolog, Paf1/RNA polymerase II complex component gene DOID:630 genetic disease ISO RGD:1322372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11984893 CTR9 CTR9 homolog, Paf1/RNA polymerase II complex component gene DOID:9003133 Hypertelorism ISO RGD:1322372 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 11984893 CTR9 CTR9 homolog, Paf1/RNA polymerase II complex component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CTR9-related neurodevelopmental disorder PMID:25741868 11984922 MS4A14 membrane spanning 4-domains A14 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11984922 MS4A14 membrane spanning 4-domains A14 gene DOID:1059 intellectual disability ISO RGD:1606761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11984922 MS4A14 membrane spanning 4-domains A14 gene DOID:4990 essential tremor ISO RGD:1606761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 11984922 MS4A14 membrane spanning 4-domains A14 gene DOID:630 genetic disease ISO RGD:1606761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11984932 AP1G1 adaptor related protein complex 1 subunit gamma 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1346195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11984932 AP1G1 adaptor related protein complex 1 subunit gamma 1 gene DOID:630 genetic disease ISO RGD:1346195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:34102099 11984932 AP1G1 adaptor related protein complex 1 subunit gamma 1 gene DOID:9000636 USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT ISO RGD:1346195 D RGD:7240710 20211215 OMIM 11984932 AP1G1 adaptor related protein complex 1 subunit gamma 1 gene DOID:9000636 USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT ISO RGD:1346195 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Usmani-Riazuddin syndrome, autosomal dominant PMID:25741868|PMID:34102099 11984932 AP1G1 adaptor related protein complex 1 subunit gamma 1 gene DOID:9002076 USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE ISO RGD:1346195 D RGD:7240710 20211215 OMIM 11984932 AP1G1 adaptor related protein complex 1 subunit gamma 1 gene DOID:9002076 USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE ISO RGD:1346195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usmani-Riazuddin syndrome, autosomal recessive PMID:34102099 11984932 AP1G1 adaptor related protein complex 1 subunit gamma 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11984968 ETV2 ETS variant transcription factor 2 gene DOID:0050852 limb ischemia ameliorates ISO RGD:1351650 D RGD:9068941 20230323 RGD PMID:28424975|PMID:28466428|REF_RGD_ID:156451664|REF_RGD_ID:192379484 11984968 ETV2 ETS variant transcription factor 2 gene DOID:0050852 limb ischemia ameliorates ISO RGD:1616004 D RGD:9068941 20230323 RGD PMID:32075417|REF_RGD_ID:192186227 11984968 ETV2 ETS variant transcription factor 2 gene DOID:0050852 limb ischemia exacerbates ISO RGD:1616004 D RGD:9068941 20230316 RGD PMID:26586661|PMID:28424975|REF_RGD_ID:11076207|REF_RGD_ID:156451664 11984968 ETV2 ETS variant transcription factor 2 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1351650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11984968 ETV2 ETS variant transcription factor 2 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1351650 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11984968 ETV2 ETS variant transcription factor 2 gene DOID:1148 polydactyly ISO RGD:1351650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:33359164 11984968 ETV2 ETS variant transcription factor 2 gene DOID:543 dystonia ISO RGD:1351650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11984968 ETV2 ETS variant transcription factor 2 gene DOID:630 genetic disease ISO RGD:1351650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11984968 ETV2 ETS variant transcription factor 2 gene DOID:9009023 Aortic Remodeling ameliorates ISO RGD:1616004 D RGD:9068941 20230316 RGD PMID:29191922|REF_RGD_ID:156451665 11984990 EPC1 enhancer of polycomb homolog 1 gene DOID:630 genetic disease ISO RGD:1314407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11984990 EPC1 enhancer of polycomb homolog 1 gene DOID:9002514 Neointima treatment ISO RGD:1314408 D RGD:9068941 20200609 RGD PMID:22398275|REF_RGD_ID:9587795 11985048 ARHGEF16 Rho guanine nucleotide exchange factor 16 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1347062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11985048 ARHGEF16 Rho guanine nucleotide exchange factor 16 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1347062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11985048 ARHGEF16 Rho guanine nucleotide exchange factor 16 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1347062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11985048 ARHGEF16 Rho guanine nucleotide exchange factor 16 gene DOID:0111934 immunodeficiency 38 ISO RGD:1347062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11985048 ARHGEF16 Rho guanine nucleotide exchange factor 16 gene DOID:0111935 immunodeficiency 16 ISO RGD:1347062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11985048 ARHGEF16 Rho guanine nucleotide exchange factor 16 gene DOID:630 genetic disease ISO RGD:1347062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11985048 ARHGEF16 Rho guanine nucleotide exchange factor 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11985048 ARHGEF16 Rho guanine nucleotide exchange factor 16 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1347062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11985068 RAB7B RAB7B, member RAS oncogene family gene DOID:11476 osteoporosis ISO RGD:1346465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 11985068 RAB7B RAB7B, member RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:1346465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11985068 RAB7B RAB7B, member RAS oncogene family gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1346465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 11985085 FAM193B family with sequence similarity 193 member B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1601757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11985085 FAM193B family with sequence similarity 193 member B gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1601757 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11985085 FAM193B family with sequence similarity 193 member B gene DOID:0112103 Sotos syndrome 1 ISO RGD:1601757 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 11985085 FAM193B family with sequence similarity 193 member B gene DOID:630 genetic disease ISO RGD:1601757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11985085 FAM193B family with sequence similarity 193 member B gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1601757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11985110 PXDN peroxidasin gene DOID:0060648 anterior segment dysgenesis ISO RGD:1607083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES PMID:26694549|PMID:28492532|PMID:32499604 11985110 PXDN peroxidasin gene DOID:0080612 anterior segment dysgenesis 7 ISO RGD:1607083 D RGD:7240710 20180130 OMIM 11985110 PXDN peroxidasin gene DOID:0080612 anterior segment dysgenesis 7 ISO RGD:1607083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis 7 | ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES PMID:17576681|PMID:21474777|PMID:21907015|PMID:24939590|PMID:25741868|PMID:26694549|PMID:28492532|PMID:9536098 11985110 PXDN peroxidasin gene DOID:630 genetic disease ISO RGD:1607083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11985110 PXDN peroxidasin gene DOID:83 cataract ISO RGD:1607083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:26694549|PMID:28492532 11985110 PXDN peroxidasin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1607083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11985110 PXDN peroxidasin gene DOID:9119 acute myeloid leukemia ISO RGD:1607083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11985140 TBC1D20 TBC1 domain family member 20 gene DOID:0060237 Warburg micro syndrome ISO RGD:1346411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11985140 TBC1D20 TBC1 domain family member 20 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:1346411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:20206331|PMID:22824638|PMID:24239381|PMID:25462087|PMID:28492532 11985140 TBC1D20 TBC1 domain family member 20 gene DOID:0110719 Warburg micro syndrome 4 ISO RGD:1346411 D RGD:7240710 20180130 OMIM 11985140 TBC1D20 TBC1 domain family member 20 gene DOID:0110719 Warburg micro syndrome 4 ISO RGD:1346411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Warburg micro syndrome 4 PMID:24239381|PMID:25741868|PMID:32740904 11985140 TBC1D20 TBC1 domain family member 20 gene DOID:630 genetic disease ISO RGD:1346411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11985140 TBC1D20 TBC1 domain family member 20 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11985140 TBC1D20 TBC1 domain family member 20 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:1346411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: POLYGLUCOSAN BODY MYOPATHY WITHOUT IMMUNODEFICIENCY | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency PMID:28492532 11985152 NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1603947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11985152 NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit gene DOID:12177 common variable immunodeficiency ISO RGD:1603947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11985152 NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11985152 NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit gene DOID:2729 dyskeratosis congenita ISO RGD:1603947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11985152 NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1603947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 11985152 NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit gene DOID:630 genetic disease ISO RGD:1603947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11985152 NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit gene DOID:9001540 Snijders Blok-Campeau Syndrome ISO RGD:1603947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome PMID:25741868 11985166 AVIL advillin gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:731808 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:25741868|PMID:29058690 11985166 AVIL advillin gene DOID:0111486 combined oxidative phosphorylation deficiency 3 ISO RGD:731808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 PMID:25741868 11985166 AVIL advillin gene DOID:0112267 nephrotic syndrome type 21 ISO RGD:731808 D RGD:7240710 20191030 OMIM 11985166 AVIL advillin gene DOID:0112267 nephrotic syndrome type 21 ISO RGD:731808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 21 PMID:25741868|PMID:29058690 11985166 AVIL advillin gene DOID:630 genetic disease ISO RGD:731808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11985196 BYSL bystin like gene DOID:0050444 infantile Refsum disease ISO RGD:1352999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11985196 BYSL bystin like gene DOID:630 genetic disease ISO RGD:1352999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11985196 BYSL bystin like gene DOID:9000998 Brain Injuries ISO RGD:727959 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:substantia nigra, striatum (rat) PMID:15305856|REF_RGD_ID:2316201 11985196 BYSL bystin like gene DOID:905 Zellweger syndrome ISO RGD:1352999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11985207 MRI1 methylthioribose-1-phosphate isomerase 1 gene DOID:1289 neurodegenerative disease ISO RGD:1604271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe cystic degeneration of the brain PMID:25558065 11985207 MRI1 methylthioribose-1-phosphate isomerase 1 gene DOID:630 genetic disease ISO RGD:1604271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11985216 NTNG2 netrin G2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316073 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11985216 NTNG2 netrin G2 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1316073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11985216 NTNG2 netrin G2 gene DOID:3312 bipolar disorder ISO RGD:1316073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17507910 11985216 NTNG2 netrin G2 gene DOID:5419 schizophrenia ISO RGD:1316073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17507910 11985216 NTNG2 netrin G2 gene DOID:630 genetic disease ISO RGD:1316073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11985216 NTNG2 netrin G2 gene DOID:9000211 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE ISO RGD:1316073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language PMID:25741868|PMID:31668703 11985216 NTNG2 netrin G2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:31668703 11985216 NTNG2 netrin G2 gene DOID:9006418 NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA ISO RGD:1316073 D RGD:7240710 20200115 OMIM 11985216 NTNG2 netrin G2 gene DOID:9006418 NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA ISO RGD:1316073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia PMID:25741868|PMID:31372774|PMID:31668703|PMID:31692205 11985216 NTNG2 netrin G2 gene DOID:9006534 Nervous System Malformations ISO RGD:1316073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11985216 NTNG2 netrin G2 gene DOID:9008086 Developmental Disabilities ISO RGD:1316073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:31372774|PMID:31692205 11985236 PHF8 PHD finger protein 8 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11985236 PHF8 PHD finger protein 8 gene DOID:0060812 syndromic X-linked intellectual disability Siderius type ISO RGD:1347460 D RGD:7240710 20180130 OMIM 11985236 PHF8 PHD finger protein 8 gene DOID:0060812 syndromic X-linked intellectual disability Siderius type ISO RGD:1347460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Siderius type PMID:10398231|PMID:16199551|PMID:17594395|PMID:17661819|PMID:25741868|PMID:28492532 11985236 PHF8 PHD finger protein 8 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1347460 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 11985236 PHF8 PHD finger protein 8 gene DOID:10283 prostate cancer ISO RGD:1347460 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate (human) PMID:22120715|REF_RGD_ID:9586733 11985236 PHF8 PHD finger protein 8 gene DOID:1059 intellectual disability ISO RGD:1347460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25167861|PMID:25741868|PMID:28492532 11985236 PHF8 PHD finger protein 8 gene DOID:12849 autistic disorder ISO RGD:1347460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11985236 PHF8 PHD finger protein 8 gene DOID:630 genetic disease ISO RGD:1347460 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 11985277 TMEM176B transmembrane protein 176B gene DOID:2843 long QT syndrome ISO RGD:1606306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 11985277 TMEM176B transmembrane protein 176B gene DOID:630 genetic disease ISO RGD:1606306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11985295 GALM galactose mutarotase gene DOID:0080690 RASopathy ISO RGD:1350990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11985295 GALM galactose mutarotase gene DOID:11211 buphthalmos ISO RGD:1350990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital glaucoma PMID:19234632|PMID:28492532|PMID:31251480|PMID:9097971|PMID:9497261 11985295 GALM galactose mutarotase gene DOID:3883 Lynch syndrome ISO RGD:1350990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11985295 GALM galactose mutarotase gene DOID:630 genetic disease ISO RGD:1350990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11985295 GALM galactose mutarotase gene DOID:9004085 Galactosemia IV ISO RGD:1350990 D RGD:7240710 20200520 OMIM 11985295 GALM galactose mutarotase gene DOID:9004085 Galactosemia IV ISO RGD:1350990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GALACTOSE MUTAROTASE DEFICIENCY | ClinVar Annotator: match by term: GALACTOSEMIA IV PMID:25741868|PMID:28492532|PMID:30451973|PMID:30910422 11985306 LCE1F late cornified envelope 1F gene DOID:0111940 immunodeficiency 42 ISO RGD:1346167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11985306 LCE1F late cornified envelope 1F gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1346167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11985306 LCE1F late cornified envelope 1F gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1346167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11985306 LCE1F late cornified envelope 1F gene DOID:1540 parathyroid carcinoma ISO RGD:1346167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11985306 LCE1F late cornified envelope 1F gene DOID:5812 MHC class II deficiency ISO RGD:1346167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11985306 LCE1F late cornified envelope 1F gene DOID:630 genetic disease ISO RGD:1346167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11985306 LCE1F late cornified envelope 1F gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11985310 KRT80 keratin 80 gene DOID:630 genetic disease ISO RGD:1606454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11985325 COQ8A coenzyme Q8A gene DOID:0050730 coenzyme Q10 deficiency disease ISO RGD:1343862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type PMID:25741868|PMID:26467025|PMID:28492532 11985325 COQ8A coenzyme Q8A gene DOID:0050753 cerebellar ataxia ISO RGD:1343862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25558065 11985325 COQ8A coenzyme Q8A gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:1343862 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia PMID:18414213|PMID:22036850|PMID:24164873|PMID:25741868|PMID:26467025|PMID:26640698|PMID:28492532|PMID:29482223|PMID:29915382|PMID:30548255|PMID:30968303|PMID:31621627|PMID:32337771|PMID:32637629 11985325 COQ8A coenzyme Q8A gene DOID:0070238 primary coenzyme Q10 deficiency 1 ISO RGD:1343862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 1 PMID:24033266 11985325 COQ8A coenzyme Q8A gene DOID:0070241 primary coenzyme Q10 deficiency 4 ISO RGD:1343862 D RGD:7240710 20180130 OMIM 11985325 COQ8A coenzyme Q8A gene DOID:0070241 primary coenzyme Q10 deficiency 4 ISO RGD:1343862 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 9 PMID:12682339|PMID:15326254|PMID:16199547|PMID:17576681|PMID:18319072|PMID:18319074|PMID:18414213|PMID:19440741|PMID:20495179|PMID:20580948|PMID:21873089|PMID:22036850|PMID:24033266|PMID:24048965|PMID:24164873|PMID:24218524|PMID:25131622|PMID:25280894|PMID:25356970|PMID:25498144|PMID:25558065|PMID:25741868|PMID:26467025|PMID:26640698|PMID:26757139|PMID:27106809|PMID:27142713|PMID:27848944|PMID:28492532|PMID:29159460|PMID:29255295|PMID:29482223|PMID:29915382|PMID:30548255|PMID:30637285|PMID:30850373|PMID:30968303|PMID:31621627|PMID:31890231|PMID:32337771|PMID:32637629|PMID:32685350|PMID:32743982|PMID:32771712|PMID:32830305|PMID:32961396|PMID:33098801|PMID:33622667|PMID:34663476|PMID:9536098 11985325 COQ8A coenzyme Q8A gene DOID:0110986 Joubert Syndrome 17 ISO RGD:1343862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 17 PMID:18319074|PMID:24033266|PMID:25741868|PMID:28492532 11985325 COQ8A coenzyme Q8A gene DOID:1540 parathyroid carcinoma ISO RGD:1343862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11985325 COQ8A coenzyme Q8A gene DOID:630 genetic disease ISO RGD:1343862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25131622|PMID:25280894|PMID:25356970|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29255295|PMID:29915382|PMID:30637285|PMID:30850373|PMID:30968303|PMID:31621627|PMID:31890231|PMID:32337771|PMID:32685350|PMID:32771712|PMID:9536098 11985325 COQ8A coenzyme Q8A gene DOID:700 mitochondrial metabolism disease ISO RGD:1343862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:25131622|PMID:25741868|PMID:28492532|PMID:32337771|PMID:32685350 11985325 COQ8A coenzyme Q8A gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1343862 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spinocerebellar Ataxia, Recessive PMID:18414213|PMID:22036850|PMID:24164873|PMID:25741868|PMID:26467025|PMID:26640698|PMID:28492532|PMID:29482223|PMID:29915382|PMID:30548255|PMID:30968303|PMID:31621627|PMID:32337771|PMID:32637629 11985325 COQ8A coenzyme Q8A gene DOID:9006534 Nervous System Malformations ISO RGD:1343862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:18319072|PMID:25741868|PMID:27142713|PMID:28492532|PMID:29915382 11985325 COQ8A coenzyme Q8A gene DOID:9008086 Developmental Disabilities ISO RGD:1343862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:18319074|PMID:20580948|PMID:24164873|PMID:28492532 11985325 COQ8A coenzyme Q8A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11985325 COQ8A coenzyme Q8A gene DOID:9650 pathologic nystagmus ISO RGD:1343862 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:25558065 11985346 TMEM89 transmembrane protein 89 gene DOID:630 genetic disease ISO RGD:1606359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11985346 TMEM89 transmembrane protein 89 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1606359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11985346 TMEM89 transmembrane protein 89 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1606359 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11985357 LARS2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:0050563 nonsyndromic deafness ISO RGD:1318191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:23541342|PMID:28492532|PMID:30311386|PMID:30737337 11985357 LARS2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:0050857 Perrault syndrome ISO RGD:1318191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perrault syndrome PMID:23541342|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26537577|PMID:26970254|PMID:27650058|PMID:28492532|PMID:28832386|PMID:29205794|PMID:30311386|PMID:30737337|PMID:32747562|PMID:32767731|PMID:34997062 11985357 LARS2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:5426 primary ovarian insufficiency ISO RGD:1318191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11985357 LARS2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1318191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23541342|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30831263 11985357 LARS2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:699 mitochondrial myopathy ISO RGD:1318191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial Myopathies PMID:24033266|PMID:25741868|PMID:26467025|PMID:28430790|PMID:28492532|PMID:32442335 11985357 LARS2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:9002027 HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA ISO RGD:1318191 D RGD:7240710 20190315 OMIM 11985357 LARS2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:9002027 HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA ISO RGD:1318191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia PMID:23541342|PMID:24033266|PMID:25741868|PMID:26537577|PMID:26970254|PMID:28000701|PMID:28492532|PMID:28832386|PMID:30737337|PMID:32442335|PMID:32747562 11985357 LARS2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1318191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11985357 LARS2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:9004726 Perrault Syndrome 4 ISO RGD:1318191 D RGD:7240710 20180130 OMIM 11985357 LARS2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:9004726 Perrault Syndrome 4 ISO RGD:1318191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perrault syndrome 4 PMID:23541342|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26537577|PMID:26657938|PMID:26970254|PMID:28000701|PMID:28492532|PMID:28708303|PMID:28832386|PMID:29205794|PMID:30311386|PMID:30737337|PMID:32399598|PMID:32442335|PMID:32747562 11985400 ZC3H12B zinc finger CCCH-type containing 12B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1601698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11985400 ZC3H12B zinc finger CCCH-type containing 12B gene DOID:0060814 Wilson-Turner syndrome ISO RGD:1601698 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Wilson-Turner syndrome 11985400 ZC3H12B zinc finger CCCH-type containing 12B gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1601698 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:9383023 11985400 ZC3H12B zinc finger CCCH-type containing 12B gene DOID:12849 autistic disorder ISO RGD:1601698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11985400 ZC3H12B zinc finger CCCH-type containing 12B gene DOID:630 genetic disease ISO RGD:1601698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11985400 ZC3H12B zinc finger CCCH-type containing 12B gene DOID:9008262 WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED ISO RGD:1601698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted PMID:25741868 11985409 PFN1 profilin 1 gene DOID:0050941 spastic ataxia 2 ISO RGD:733332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 11985409 PFN1 profilin 1 gene DOID:0060209 amyotrophic lateral sclerosis type 18 ISO RGD:733332 D RGD:7240710 20180130 OMIM 11985409 PFN1 profilin 1 gene DOID:0060209 amyotrophic lateral sclerosis type 18 ISO RGD:733332 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 18 PMID:22801503|PMID:25741868|PMID:26908597|PMID:28492532|PMID:31346562|PMID:31991009|PMID:32392277|PMID:32589291 11985409 PFN1 profilin 1 gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:733332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 11985409 PFN1 profilin 1 gene DOID:1289 neurodegenerative disease ISO RGD:733332 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder PMID:25741868|PMID:26908597|PMID:31346562|PMID:31991009|PMID:32392277|PMID:32589291 11985409 PFN1 profilin 1 gene DOID:1793 pancreatic cancer ISO RGD:733332 D RGD:9068941 20200609 RGD PMID:16215274|REF_RGD_ID:2317552 11985409 PFN1 profilin 1 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:621825 D RGD:9068941 20200609 RGD PMID:8651905|REF_RGD_ID:729497 11985409 PFN1 profilin 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:733332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532 11985409 PFN1 profilin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:733332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 11985409 PFN1 profilin 1 gene DOID:630 genetic disease ISO RGD:733332 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11985409 PFN1 profilin 1 gene DOID:9000058 Keloid ISO RGD:733332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 11985409 PFN1 profilin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11985416 MYMK myomaker, myoblast fusion factor gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:3302829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 11985416 MYMK myomaker, myoblast fusion factor gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:3302829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11985416 MYMK myomaker, myoblast fusion factor gene DOID:0080194 Carey-Fineman-Ziter syndrome ISO RGD:3302829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences PMID:25741868|PMID:28681861|PMID:29560417|PMID:30016436|PMID:30065953|PMID:7131178 11985416 MYMK myomaker, myoblast fusion factor gene DOID:0080324 tuberous sclerosis 1 ISO RGD:3302829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11985416 MYMK myomaker, myoblast fusion factor gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:3302829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11985416 MYMK myomaker, myoblast fusion factor gene DOID:0081097 Rafiq syndrome ISO RGD:3302829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11985416 MYMK myomaker, myoblast fusion factor gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:3302829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11985416 MYMK myomaker, myoblast fusion factor gene DOID:3652 Leigh disease ISO RGD:3302829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11985416 MYMK myomaker, myoblast fusion factor gene DOID:9008218 Carey-Fineman-Ziter Syndrome 1 ISO RGD:3302829 D RGD:7240710 20220706 OMIM 11985416 MYMK myomaker, myoblast fusion factor gene DOID:9008218 Carey-Fineman-Ziter Syndrome 1 ISO RGD:3302829 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 1 PMID:25741868|PMID:28681861|PMID:29560417|PMID:30065953|PMID:7131178 11985425 CHIC2 cysteine rich hydrophobic domain 2 gene DOID:630 genetic disease ISO RGD:1319536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11985425 CHIC2 cysteine rich hydrophobic domain 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1319536 D RGD:7240710 20180130 OMIM 11985440 TNMD tenomodulin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11985440 TNMD tenomodulin gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:731806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:21053371|PMID:23712037|PMID:27179713|PMID:28492532|PMID:29377098 11985440 TNMD tenomodulin gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:731806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 11985440 TNMD tenomodulin gene DOID:12849 autistic disorder ISO RGD:731806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11985440 TNMD tenomodulin gene DOID:630 genetic disease ISO RGD:731806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11985482 PSCA prostate stem cell antigen gene DOID:0060071 pre-malignant neoplasm ISO RGD:1321185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28220687 11985482 PSCA prostate stem cell antigen gene DOID:11054 urinary bladder cancer ISO RGD:1321185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19648920|PMID:20083643 11985482 PSCA prostate stem cell antigen gene DOID:1724 duodenal ulcer ISO RGD:1321185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22387998 11985482 PSCA prostate stem cell antigen gene DOID:4023 linitis plastica ISO RGD:1321185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18488030 11985482 PSCA prostate stem cell antigen gene DOID:630 genetic disease ISO RGD:1321185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11985482 PSCA prostate stem cell antigen gene DOID:9000217 Stomach Neoplasms ISO RGD:1321185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18488030|PMID:26098866 11985482 PSCA prostate stem cell antigen gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16015594 11985482 PSCA prostate stem cell antigen gene DOID:9008114 Helicobacter Infections ISO RGD:1321185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28220687 11985489 KLHL33 kelch like family member 33 gene DOID:630 genetic disease ISO RGD:1642111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11985499 GPBP1L1 GC-rich promoter binding protein 1 like 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11985499 GPBP1L1 GC-rich promoter binding protein 1 like 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11985499 GPBP1L1 GC-rich promoter binding protein 1 like 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11985499 GPBP1L1 GC-rich promoter binding protein 1 like 1 gene DOID:13938 amenorrhea ISO RGD:1605641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11985499 GPBP1L1 GC-rich promoter binding protein 1 like 1 gene DOID:630 genetic disease ISO RGD:1605641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11985535 SH3RF1 SH3 domain containing ring finger 1 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1348094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:22499340|PMID:28492532|PMID:29068549 11985535 SH3RF1 SH3 domain containing ring finger 1 gene DOID:630 genetic disease ISO RGD:1348094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11985567 GNAO1 G protein subunit alpha o1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:23993195|PMID:25356970|PMID:25363768|PMID:25533962|PMID:25741868|PMID:25944380|PMID:25966631|PMID:26060304|PMID:26467025|PMID:26485252|PMID:26795593|PMID:27068059|PMID:27072799|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28135719|PMID:28191890|PMID:28202424|PMID:28357411|PMID:28492532|PMID:28628939|PMID:28688840|PMID:28747448|PMID:28817111|PMID:29390993|PMID:29761117|PMID:30682224|PMID:31406558|PMID:32581362|PMID:33298085|PMID:9536098 11985567 GNAO1 G protein subunit alpha o1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731076 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:23993195|PMID:25356970|PMID:25363768|PMID:25533962|PMID:25741868|PMID:25966631|PMID:26060304|PMID:26467025|PMID:26485252|PMID:26795593|PMID:27068059|PMID:27072799|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28135719|PMID:28191890|PMID:28202424|PMID:28357411|PMID:28492532|PMID:28628939|PMID:28688840|PMID:28747448|PMID:28817111|PMID:29390993|PMID:29761117|PMID:30682224|PMID:31406558|PMID:32581362|PMID:33298085|PMID:9536098 11985567 GNAO1 G protein subunit alpha o1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:16199547|PMID:17576681|PMID:18434540|PMID:23993195|PMID:25356970|PMID:25363768|PMID:25533962|PMID:25590979|PMID:25741868|PMID:25966631|PMID:26060304|PMID:26467025|PMID:26485252|PMID:26595808|PMID:26633542|PMID:26795593|PMID:27068059|PMID:27072799|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28135719|PMID:28191890|PMID:28202424|PMID:28357411|PMID:28492532|PMID:28628939|PMID:28668776|PMID:28688840|PMID:28714951|PMID:28747448|PMID:28817111|PMID:29389947|PMID:29390993|PMID:29761117|PMID:29935962|PMID:30642806|PMID:30682224|PMID:31130284|PMID:31394400|PMID:31406558|PMID:31737037|PMID:31780880|PMID:32581362|PMID:32898863|PMID:33298085|PMID:34122306|PMID:35509770|PMID:35722775|PMID:35782616|PMID:8521505|PMID:9108480|PMID:9536098 11985567 GNAO1 G protein subunit alpha o1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731076 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:16199547|PMID:17576681|PMID:18434540|PMID:20177705|PMID:23993195|PMID:24608809|PMID:25356970|PMID:25363768|PMID:25533962|PMID:25590979|PMID:25640679|PMID:25741868|PMID:25966631|PMID:26060304|PMID:26467025|PMID:26485252|PMID:26518167|PMID:26595808|PMID:26633542|PMID:26795593|PMID:27068059|PMID:27072799|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28135719|PMID:28191890|PMID:28202424|PMID:28357411|PMID:28492532|PMID:28628939|PMID:28668776|PMID:28688840|PMID:28714951|PMID:28747448|PMID:28817111|PMID:29389947|PMID:29390993|PMID:29761117|PMID:29935962|PMID:30642806|PMID:30682224|PMID:30866059|PMID:31130284|PMID:31394400|PMID:31406558|PMID:31737037|PMID:31780880|PMID:32581362|PMID:32898863|PMID:33298085|PMID:34122306|PMID:35509770|PMID:35722775|PMID:35782616|PMID:8521505|PMID:9108480|PMID:9536098 11985567 GNAO1 G protein subunit alpha o1 gene DOID:0060001 withdrawal disorder ISO RGD:731076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12199159 11985567 GNAO1 G protein subunit alpha o1 gene DOID:0080450 developmental and epileptic encephalopathy 17 ISO RGD:731076 D RGD:7240710 20180130 OMIM 11985567 GNAO1 G protein subunit alpha o1 gene DOID:0080450 developmental and epileptic encephalopathy 17 ISO RGD:731076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 17 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 17 PMID:17576681|PMID:18414213|PMID:23993195|PMID:25356970|PMID:25533962|PMID:25590979|PMID:25741868|PMID:25966631|PMID:26060304|PMID:26467025|PMID:26485252|PMID:26633542|PMID:26795593|PMID:27068059|PMID:27072799|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28202424|PMID:28357411|PMID:28492532|PMID:28503590|PMID:28628939|PMID:28668776|PMID:28688840|PMID:28747448|PMID:28817111|PMID:29389947|PMID:29761117|PMID:29935962|PMID:29961512|PMID:30642806|PMID:30682224|PMID:31130284|PMID:31406558|PMID:31737037|PMID:31780880|PMID:32581362|PMID:33298085|PMID:34122306|PMID:35509770|PMID:35722775|PMID:35782616|PMID:9536098 11985567 GNAO1 G protein subunit alpha o1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:731076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 11985567 GNAO1 G protein subunit alpha o1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731076 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:16199547|PMID:17576681|PMID:18434540|PMID:20177705|PMID:23993195|PMID:24608809|PMID:25356970|PMID:25363768|PMID:25533962|PMID:25590979|PMID:25640679|PMID:25741868|PMID:25966631|PMID:26060304|PMID:26467025|PMID:26485252|PMID:26518167|PMID:26595808|PMID:26633542|PMID:26795593|PMID:27068059|PMID:27072799|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28135719|PMID:28191890|PMID:28202424|PMID:28357411|PMID:28492532|PMID:28628939|PMID:28668776|PMID:28688840|PMID:28714951|PMID:28747448|PMID:28817111|PMID:29389947|PMID:29390993|PMID:29761117|PMID:29935962|PMID:30642806|PMID:30682224|PMID:30866059|PMID:31130284|PMID:31394400|PMID:31406558|PMID:31737037|PMID:31780880|PMID:32581362|PMID:32898863|PMID:33298085|PMID:34122306|PMID:35509770|PMID:35722775|PMID:35782616|PMID:8521505|PMID:9108480|PMID:9536098 11985567 GNAO1 G protein subunit alpha o1 gene DOID:0112276 neurodevelopmental disorder with involuntary movements ISO RGD:731076 D RGD:7240710 20190315 OMIM 11985567 GNAO1 G protein subunit alpha o1 gene DOID:0112276 neurodevelopmental disorder with involuntary movements ISO RGD:731076 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with involuntary movements PMID:23993195|PMID:25356970|PMID:25533962|PMID:25590979|PMID:25741868|PMID:25966631|PMID:26060304|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27068059|PMID:27072799|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28202424|PMID:28357411|PMID:28492532|PMID:28628939|PMID:28668776|PMID:28688840|PMID:28747448|PMID:29389947|PMID:29761117|PMID:29935962|PMID:30642806|PMID:31130284|PMID:31406558|PMID:31737037|PMID:31780880|PMID:32581362|PMID:33298085|PMID:34122306|PMID:35509770|PMID:35722775|PMID:35782616 11985567 GNAO1 G protein subunit alpha o1 gene DOID:1059 intellectual disability ISO RGD:731076 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26595808|PMID:28492532 11985567 GNAO1 G protein subunit alpha o1 gene DOID:10907 microcephaly ISO RGD:731076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:23993195|PMID:25741868|PMID:25966631|PMID:26060304|PMID:27072799|PMID:28202424|PMID:28492532|PMID:28628939|PMID:28747448 11985567 GNAO1 G protein subunit alpha o1 gene DOID:12859 choreatic disease ISO RGD:731076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Choreatic disease PMID:25741868|PMID:28492532|PMID:28668776|PMID:29389947|PMID:29935962|PMID:30642806|PMID:31130284|PMID:31737037|PMID:31780880|PMID:32581362 11985567 GNAO1 G protein subunit alpha o1 gene DOID:1826 epilepsy ISO RGD:731076 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11985567 GNAO1 G protein subunit alpha o1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:731076 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11985567 GNAO1 G protein subunit alpha o1 gene DOID:480 movement disease ISO RGD:731076 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Movement disorder PMID:23993195|PMID:25533962|PMID:25741868|PMID:25966631|PMID:26060304|PMID:27068059|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28357411|PMID:28492532|PMID:28688840|PMID:32581362 11985567 GNAO1 G protein subunit alpha o1 gene DOID:630 genetic disease ISO RGD:731076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15313569|PMID:16199547|PMID:18434540|PMID:23993195|PMID:24700286|PMID:25356970|PMID:25533962|PMID:25741868|PMID:25966631|PMID:26060304|PMID:26467025|PMID:26485252|PMID:26595808|PMID:26633542|PMID:26795593|PMID:27068059|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28135719|PMID:28191890|PMID:28357411|PMID:28492532|PMID:28628939|PMID:28688840|PMID:28747448|PMID:29761117|PMID:30682224|PMID:31130284|PMID:31406558|PMID:32581362|PMID:33298085|PMID:34122306|PMID:35509770|PMID:35722775|PMID:35782616|PMID:8521505|PMID:9108480 11985567 GNAO1 G protein subunit alpha o1 gene DOID:684 hepatocellular carcinoma ISO RGD:731076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11985567 GNAO1 G protein subunit alpha o1 gene DOID:9001793 Generalized Epilepsy ISO RGD:731076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:17576681|PMID:25741868|PMID:26485252|PMID:28357411|PMID:28492532|PMID:28747448|PMID:28817111|PMID:30682224|PMID:32581362|PMID:9536098 11985567 GNAO1 G protein subunit alpha o1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 11985567 GNAO1 G protein subunit alpha o1 gene DOID:9006534 Nervous System Malformations ISO RGD:731076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:23993195|PMID:25356970|PMID:25741868|PMID:25966631|PMID:26060304|PMID:26795593|PMID:27068059|PMID:27072799|PMID:28202424|PMID:28492532|PMID:28628939|PMID:28688840|PMID:28747448|PMID:29761117|PMID:31406558|PMID:33298085 11985567 GNAO1 G protein subunit alpha o1 gene DOID:9008086 Developmental Disabilities ISO RGD:731076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:25356970|PMID:25741868|PMID:25966631|PMID:26795593|PMID:27068059|PMID:28492532|PMID:28628939|PMID:28688840|PMID:28747448|PMID:29761117|PMID:31406558|PMID:33298085 11985567 GNAO1 G protein subunit alpha o1 gene DOID:9008675 Dyskinesias ISO RGD:731076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyskinesia PMID:25741868|PMID:28492532|PMID:28668776|PMID:29389947|PMID:29935962|PMID:30642806|PMID:31130284|PMID:31737037|PMID:31780880|PMID:32581362 11985589 LPCAT1 lysophosphatidylcholine acyltransferase 1 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1602676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 11985589 LPCAT1 lysophosphatidylcholine acyltransferase 1 gene DOID:630 genetic disease ISO RGD:1602676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11985589 LPCAT1 lysophosphatidylcholine acyltransferase 1 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1602676 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1349807 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:0111955 immunodeficiency 27A ISO RGD:1349807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:10192386|PMID:10811850|PMID:11583830|PMID:12516030|PMID:12712974|PMID:12743658|PMID:15589309|PMID:16690980|PMID:18171304|PMID:18593809|PMID:19488747|PMID:19880337|PMID:19880857|PMID:20015550|PMID:21448974|PMID:24033266|PMID:24199198|PMID:25216720|PMID:25592983|PMID:25741868|PMID:26060819|PMID:26173802|PMID:26343451|PMID:27356097|PMID:28492532|PMID:28902581|PMID:8960473|PMID:8960475|PMID:9142806|PMID:9389728|PMID:9497247|PMID:9806040 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:0111955 immunodeficiency 27A susceptibility ISO RGD:1349807 D RGD:7240710 20230505 OMIM 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:0111956 immunodeficiency 27B ISO RGD:1349807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency PMID:10192386|PMID:11583830|PMID:12712974|PMID:15589309|PMID:16867158|PMID:18171304|PMID:19880337|PMID:20015550|PMID:24033266|PMID:25216720|PMID:25741868|PMID:28492532|PMID:28902581|PMID:8960473|PMID:9806040 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:0111956 immunodeficiency 27B susceptibility ISO RGD:1349807 D RGD:7240710 20230505 OMIM 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:11476 osteoporosis ISO RGD:1551263 D RGD:9068941 20220825 MouseDO OMIM:166710 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:12155 lymphocytic choriomeningitis ameliorates ISO RGD:1551263 D RGD:9068941 20210326 RGD PMID:22496215|REF_RGD_ID:124715469 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:13141 uveitis ISO RGD:1349807 D RGD:9068941 20200609 RGD associated with Behcet's disease PMID:29534057|REF_RGD_ID:14974251 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:2043 hepatitis B ISO RGD:1349807 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HBV, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Hepatitis B virus, susceptibility to PMID:10192386|PMID:11583830|PMID:12516030|PMID:16690980|PMID:18171304|PMID:19488747|PMID:20015550|PMID:25741868|PMID:28492532|PMID:28902581 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:2043 hepatitis B susceptibility ISO RGD:1349807 D RGD:7240710 20190502 OMIM 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:2349 arteriosclerosis ISO RGD:1349807 D RGD:9068941 20200609 RGD PMID:20655098|REF_RGD_ID:6480271 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:2841 asthma ISO RGD:1349807 D RGD:9068941 20200609 RGD DNA: SNP: Leu467Pro PMID:12851715|REF_RGD_ID:6480431 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:2841 asthma ISO RGD:1551263 D RGD:9068941 20200609 RGD PMID:21737883|REF_RGD_ID:6480255 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:289 endometriosis ISO RGD:1349807 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:399 tuberculosis ISO RGD:1349807 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against | ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to PMID:10192386|PMID:11583830|PMID:12516030|PMID:16690980|PMID:18171304|PMID:19488747|PMID:20015550|PMID:25741868|PMID:28492532|PMID:28902581|PMID:9389728 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:399 tuberculosis susceptibility ISO RGD:1349807 D RGD:7240710 20190502 OMIM 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1349807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:12712974|PMID:15589309|PMID:19880337|PMID:24033266|PMID:25216720|PMID:25741868|PMID:28492532|PMID:8960473|PMID:9806040 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:630 genetic disease ISO RGD:1349807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:6432 pulmonary hypertension ISO RGD:1349807 D RGD:9068941 20200609 RGD mRNA: increased expression PMID:20808962|REF_RGD_ID:4892610 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:824 periodontitis ISO RGD:1349807 D RGD:9068941 20200609 RGD PMID:20655098|REF_RGD_ID:6480271 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:9000099 Experimental Colitis ameliorates ISO RGD:1551263 D RGD:9068941 20210326 RGD PMID:25918247|REF_RGD_ID:124715468 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:9001415 Mycobacterium Infections ISO RGD:1349807 D RGD:9068941 20200609 RGD DNA: missense mutations: cds: I87T; V63G PMID:21266457|REF_RGD_ID:6480268 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:9001415 Mycobacterium Infections ISO RGD:1349807 D RGD:9068941 20200609 RGD DNA: mutation PMID:15589309|REF_RGD_ID:6480429 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349807 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:1349807 D RGD:9068941 20200609 RGD DNA: SNP: Leu467Pro PMID:12851715|REF_RGD_ID:6480431 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:9004697 Interferon Gamma, Receptor 1, Deficiency ISO RGD:1349807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Interferon gamma receptor 1 deficiency | ClinVar Annotator: match by term: Interferon gamma receptor deficiency PMID:10192386|PMID:11583830|PMID:12516030|PMID:16199547|PMID:18171304|PMID:18593809|PMID:20015550|PMID:25741868|PMID:28492532|PMID:28902581|PMID:8960473|PMID:9806040 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1349807 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection PMID:10192386|PMID:10480427|PMID:10811850|PMID:11583830|PMID:12516030|PMID:12712974|PMID:12743658|PMID:15589309|PMID:16199547|PMID:16690980|PMID:17251453|PMID:17513528|PMID:17514500|PMID:17576681|PMID:18171304|PMID:18593809|PMID:19488747|PMID:19880337|PMID:20015550|PMID:21448974|PMID:24033266|PMID:24199198|PMID:24220318|PMID:25216720|PMID:25741868|PMID:26060819|PMID:26173802|PMID:26343451|PMID:26642243|PMID:27356097|PMID:28492532|PMID:28744922|PMID:28902581|PMID:29572183|PMID:8960473|PMID:9389728|PMID:9536098|PMID:9806040 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:9004729 Nontuberculous Mycobacterium Infections susceptibility ISO RGD:1349807 D RGD:9068941 20200609 RGD DNA:nonsense mutation PMID:8960473|REF_RGD_ID:1624283 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1349807 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:9007356 Eczema ISO RGD:1551263 D RGD:9068941 20200609 RGD DNA: insertion: exon 5: neo cassette PMID:21458658|REF_RGD_ID:6480259 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:9007356 Eczema resistance ISO RGD:1349807 D RGD:9068941 20200609 RGD DNA: snps: rs7749390, rs10457655 PMID:21458658|REF_RGD_ID:6480259 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:1349807 D RGD:9068941 20200609 RGD DNA: SNP: Leu467Pro PMID:12851715|REF_RGD_ID:6480431 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:9008114 Helicobacter Infections ISO RGD:1349807 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Helicobacter pylori infection, susceptibility to PMID:10192386|PMID:11583830|PMID:12516030|PMID:16690980|PMID:18171304|PMID:19488747|PMID:20015550|PMID:25741868|PMID:28492532|PMID:28902581 11985609 IFNGR1 interferon gamma receptor 1 gene DOID:9008114 Helicobacter Infections susceptibility ISO RGD:1349807 D RGD:7240710 20190502 OMIM 11985627 MARVELD1 MARVEL domain containing 1 gene DOID:0080600 COVID-19 ISO RGD:1353944 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11985627 MARVELD1 MARVEL domain containing 1 gene DOID:14566 disease of cellular proliferation ISO RGD:1353944 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:31205918 11985627 MARVELD1 MARVEL domain containing 1 gene DOID:630 genetic disease ISO RGD:1353944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11985633 NECTIN3 nectin cell adhesion molecule 3 gene DOID:630 genetic disease ISO RGD:1319897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11985633 NECTIN3 nectin cell adhesion molecule 3 gene DOID:83 cataract ISO RGD:1319897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract 11985633 NECTIN3 nectin cell adhesion molecule 3 gene DOID:9002321 Teratozoospermia ISO RGD:1319897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28689229 11985710 TMEM64 transmembrane protein 64 gene DOID:630 genetic disease ISO RGD:1606436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11985719 ZDHHC4 zinc finger DHHC-type palmitoyltransferase 4 gene DOID:630 genetic disease ISO RGD:1318128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11985749 VWC2L von Willebrand factor C domain containing 2 like gene DOID:630 genetic disease ISO RGD:2859445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11985749 VWC2L von Willebrand factor C domain containing 2 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2859445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11985757 LOC100970788 small proline-rich protein 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1354373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11985757 LOC100970788 small proline-rich protein 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1354373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11985757 LOC100970788 small proline-rich protein 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1354373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11985757 LOC100970788 small proline-rich protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1354373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11985757 LOC100970788 small proline-rich protein 3 gene DOID:5812 MHC class II deficiency ISO RGD:1354373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11985757 LOC100970788 small proline-rich protein 3 gene DOID:630 genetic disease ISO RGD:1354373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11985757 LOC100970788 small proline-rich protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11985772 NAF1 nuclear assembly factor 1 ribonucleoprotein gene DOID:1909 melanoma ISO RGD:1606990 D RGD:9068941 20220610 RGD DNA:SNP:cds:rs7675988 (human) PMID:25231748|REF_RGD_ID:152995261 11985772 NAF1 nuclear assembly factor 1 ribonucleoprotein gene DOID:3770 pulmonary fibrosis ISO RGD:1606990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:25741868 11985772 NAF1 nuclear assembly factor 1 ribonucleoprotein gene DOID:630 genetic disease ISO RGD:1606990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11985772 NAF1 nuclear assembly factor 1 ribonucleoprotein gene DOID:9005771 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 7 ISO RGD:1606990 D RGD:7240710 20230517 OMIM 11985787 ADAM12 ADAM metallopeptidase domain 12 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1317265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11985787 ADAM12 ADAM metallopeptidase domain 12 gene DOID:5199 ureteral obstruction ISO RGD:1317266 D RGD:9068941 20200609 RGD PMID:24103556|REF_RGD_ID:13703030 11985787 ADAM12 ADAM metallopeptidase domain 12 gene DOID:630 genetic disease ISO RGD:1317265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11985787 ADAM12 ADAM metallopeptidase domain 12 gene DOID:8398 osteoarthritis susceptibility ISO RGD:1317265 D RGD:9068941 20200609 RGD PMID:15334463|REF_RGD_ID:1625347 11985813 TVP23A trans-golgi network vesicle protein 23 homolog A gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1343449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 11985813 TVP23A trans-golgi network vesicle protein 23 homolog A gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1343449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 11985813 TVP23A trans-golgi network vesicle protein 23 homolog A gene DOID:5812 MHC class II deficiency ISO RGD:1343449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:26271388|PMID:28492532|PMID:8402893|PMID:9099848 11985813 TVP23A trans-golgi network vesicle protein 23 homolog A gene DOID:630 genetic disease ISO RGD:1343449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11985828 FMR1 fragile X messenger ribonucleoprotein 1 gene DOID:0050879 fragile X-associated tremor/ataxia syndrome ISO RGD:735919 D RGD:7240710 20180130 OMIM 11985828 FMR1 fragile X messenger ribonucleoprotein 1 gene DOID:0060001 withdrawal disorder ISO RGD:2623 D RGD:9068941 20200609 RGD mRNA:decreased expression:prefrontal cortex (rat) PMID:24810662|REF_RGD_ID:11667955 11985828 FMR1 fragile X messenger ribonucleoprotein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:2623 D RGD:9068941 20200609 RGD PMID:24773431|REF_RGD_ID:9831152 11985828 FMR1 fragile X messenger ribonucleoprotein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:735920 D RGD:9068941 20220825 MouseDO 11985828 FMR1 fragile X messenger ribonucleoprotein 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:2623 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus, cytosol (rat) PMID:23831253|REF_RGD_ID:11667971 11985828 FMR1 fragile X messenger ribonucleoprotein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11985828 FMR1 fragile X messenger ribonucleoprotein 1 gene DOID:0080600 COVID-19 ISO RGD:735919 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11985828 FMR1 fragile X messenger ribonucleoprotein 1 gene DOID:0080857 primary ovarian insufficiency 1 ISO RGD:735919 D RGD:7240710 20200219 OMIM 11985828 FMR1 fragile X messenger ribonucleoprotein 1 gene DOID:1059 intellectual disability ISO RGD:735919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25167861|PMID:25741868 11985828 FMR1 fragile X messenger ribonucleoprotein 1 gene DOID:12849 autistic disorder ISO RGD:735919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:21681106|PMID:25741868|PMID:30208311 11985828 FMR1 fragile X messenger ribonucleoprotein 1 gene DOID:14261 fragile X syndrome ISO RGD:735919 D RGD:7240710 20180130 OMIM 11985828 FMR1 fragile X messenger ribonucleoprotein 1 gene DOID:14261 fragile X syndrome ISO RGD:735919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fragile X syndrome PMID:15805463|PMID:18664458|PMID:21267007|PMID:25171808|PMID:25741868|PMID:7530551|PMID:7633450|PMID:7670500|PMID:8156595|PMID:8490650|PMID:9659908 11985828 FMR1 fragile X messenger ribonucleoprotein 1 gene DOID:14447 gonadal dysgenesis ISO RGD:735919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22043169 11985828 FMR1 fragile X messenger ribonucleoprotein 1 gene DOID:1561 cognitive disorder ISO RGD:735919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22043169 11985828 FMR1 fragile X messenger ribonucleoprotein 1 gene DOID:2030 anxiety disorder ISO RGD:735919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28616095 11985828 FMR1 fragile X messenger ribonucleoprotein 1 gene DOID:224 transient cerebral ischemia ISO RGD:2623 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:striatum (rat) PMID:22817682|REF_RGD_ID:11566024 11985828 FMR1 fragile X messenger ribonucleoprotein 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:735919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12548733 11985828 FMR1 fragile X messenger ribonucleoprotein 1 gene DOID:630 genetic disease ISO RGD:735919 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10448821|PMID:10611212|PMID:12418611|PMID:12529854|PMID:12871874|PMID:15052536|PMID:16700053|PMID:17166801|PMID:19367323|PMID:20799337|PMID:22463693|PMID:24448548|PMID:25171808|PMID:25561520|PMID:25741868|PMID:26819560|PMID:26880065|PMID:29178241|PMID:8037202|PMID:8490650|PMID:9606468 11985828 FMR1 fragile X messenger ribonucleoprotein 1 gene DOID:9000998 Brain Injuries ISO RGD:2623 D RGD:9068941 20200609 RGD protein:altered localization:hippocampus (rat) PMID:16510718|REF_RGD_ID:11667962 11985828 FMR1 fragile X messenger ribonucleoprotein 1 gene DOID:9001487 Facies ISO RGD:735919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22043169 11985828 FMR1 fragile X messenger ribonucleoprotein 1 gene DOID:9005363 Primary Ovarian Insufficiency, Fragile X-Associated ISO RGD:735920 D RGD:9068941 20200609 RGD PMID:22470123|REF_RGD_ID:12050152 11985828 FMR1 fragile X messenger ribonucleoprotein 1 gene DOID:9005835 Congenital Abnormalities ISO RGD:735919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20425835 11985828 FMR1 fragile X messenger ribonucleoprotein 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:735919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17065172|PMID:22043169 11985873 PHC1 polyhomeotic homolog 1 gene DOID:0070287 primary autosomal recessive microcephaly 11 ISO RGD:1319414 D RGD:7240710 20180130 OMIM 11985873 PHC1 polyhomeotic homolog 1 gene DOID:0070287 primary autosomal recessive microcephaly 11 ISO RGD:1319414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 11, primary, autosomal recessive PMID:23418308|PMID:25558065|PMID:25741868 11985873 PHC1 polyhomeotic homolog 1 gene DOID:1059 intellectual disability ISO RGD:1319414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23418308|PMID:25558065 11985873 PHC1 polyhomeotic homolog 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319415 D RGD:9068941 20220825 MouseDO 11985873 PHC1 polyhomeotic homolog 1 gene DOID:630 genetic disease ISO RGD:1319414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11985873 PHC1 polyhomeotic homolog 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1319415 D RGD:9068941 20220825 MouseDO OMIM:187500 11985873 PHC1 polyhomeotic homolog 1 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1319414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16168501 11985873 PHC1 polyhomeotic homolog 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1319414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11985919 PINLYP phospholipase A2 inhibitor and LY6/PLAUR domain containing gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:6771275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 11985919 PINLYP phospholipase A2 inhibitor and LY6/PLAUR domain containing gene DOID:5419 schizophrenia ISO RGD:6771275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11985919 PINLYP phospholipase A2 inhibitor and LY6/PLAUR domain containing gene DOID:630 genetic disease ISO RGD:6771275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11985937 PCBD1 pterin-4 alpha-carbinolamine dehydratase 1 gene DOID:0081131 BH4-deficient hyperphenylalaninemia D ISO RGD:1604063 D RGD:7240710 20180130 OMIM 11985937 PCBD1 pterin-4 alpha-carbinolamine dehydratase 1 gene DOID:0081131 BH4-deficient hyperphenylalaninemia D ISO RGD:1604063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE DEFICIENCY | ClinVar Annotator: match by term: Hyperphenylalaninemia, BH4-deficient, D | ClinVar Annotator: match by term: Hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-alpha-carbinolamine dehydratase deficiency PMID:24133926|PMID:24204001|PMID:24848070|PMID:25333069|PMID:25741868|PMID:27246466|PMID:28492532|PMID:8352282|PMID:8618906|PMID:9585615|PMID:958615|PMID:9760199 11985937 PCBD1 pterin-4 alpha-carbinolamine dehydratase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1604063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11985937 PCBD1 pterin-4 alpha-carbinolamine dehydratase 1 gene DOID:630 genetic disease ISO RGD:1604063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11985937 PCBD1 pterin-4 alpha-carbinolamine dehydratase 1 gene DOID:9006205 Animal Disease Models ISO RGD:1604063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11985937 PCBD1 pterin-4 alpha-carbinolamine dehydratase 1 gene DOID:9281 phenylketonuria ISO RGD:1604063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia 11985948 GBP7 guanylate binding protein 7 gene DOID:630 genetic disease ISO RGD:1601687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11985967 CHAD chondroadherin gene DOID:630 genetic disease ISO RGD:734435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11985976 GCC2 GRIP and coiled-coil domain containing 2 gene DOID:0111201 distal hereditary motor neuronopathy type 7A ISO RGD:1605713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A PMID:28492532 11985976 GCC2 GRIP and coiled-coil domain containing 2 gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1605713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant PMID:10431241|PMID:10431242|PMID:18854857|PMID:20979233|PMID:28492532|PMID:28981473 11985976 GCC2 GRIP and coiled-coil domain containing 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1605713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27876815 11985976 GCC2 GRIP and coiled-coil domain containing 2 gene DOID:630 genetic disease ISO RGD:1605713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11985976 GCC2 GRIP and coiled-coil domain containing 2 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1605713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:28492532 11986002 ECHDC2 enoyl-CoA hydratase domain containing 2 gene DOID:630 genetic disease ISO RGD:1349844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11986038 RUSF1 RUS family member 1 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1601979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11986038 RUSF1 RUS family member 1 gene DOID:630 genetic disease ISO RGD:1601979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11986038 RUSF1 RUS family member 1 gene DOID:9432 renal glycosuria ISO RGD:1601979 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial renal glucosuria PMID:14569097|PMID:14614622|PMID:15110322|PMID:18622023|PMID:25741868|PMID:28492532 11986070 ARHGAP18 Rho GTPase activating protein 18 gene DOID:5419 schizophrenia ISO RGD:1312852 D RGD:9068941 20200609 RGD DNA:SNPs:multiple PMID:19065146|REF_RGD_ID:5686816 11986070 ARHGAP18 Rho GTPase activating protein 18 gene DOID:630 genetic disease ISO RGD:1312852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11986089 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:0050477 Liddle syndrome ISO RGD:732847 D RGD:9068941 20200609 RGD DNA:nonsense mutation:exon:p.W574X (human) PMID:7550319|REF_RGD_ID:737754 11986089 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:0060041 autism spectrum disorder ISO RGD:732847 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11986089 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 ISO RGD:732847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive PMID:10391210|PMID:11231969|PMID:12473862|PMID:15198480|PMID:17460608|PMID:17634077|PMID:18424465|PMID:18507830|PMID:19462466|PMID:21956615|PMID:22995991|PMID:23149595|PMID:24033266|PMID:24882431|PMID:25741868|PMID:25900089|PMID:26135620|PMID:26467025|PMID:26537344|PMID:27884173|PMID:28492532|PMID:28497567|PMID:29229744|PMID:31655555|PMID:8640238 11986089 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 ISO RGD:732847 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 PMID:10391210|PMID:12473862|PMID:15198480|PMID:17460608|PMID:17560176|PMID:17634077|PMID:18424465|PMID:18507830|PMID:19017867|PMID:19462466|PMID:21956615|PMID:22995991|PMID:23149595|PMID:24033266|PMID:24882431|PMID:25741868|PMID:25900089|PMID:26135620|PMID:26467025|PMID:26537344|PMID:27884173|PMID:28492532|PMID:28497567|PMID:29229744|PMID:31655555 11986089 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:732847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:28492532 11986089 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:0080528 bronchiectasis 3 ISO RGD:732847 D RGD:7240710 20180130 OMIM 11986089 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:0080528 bronchiectasis 3 ISO RGD:732847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 3 PMID:10391210|PMID:12473862|PMID:17460608|PMID:17560176|PMID:17634077|PMID:18507830|PMID:19017867|PMID:19462466|PMID:21956615|PMID:22995991|PMID:24033266|PMID:24882431|PMID:25741868|PMID:25900089|PMID:26467025|PMID:26537344|PMID:27884173|PMID:28492532|PMID:28497567|PMID:29229744|PMID:31655555 11986089 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:10763 hypertension ISO RGD:732847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15198480 11986089 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:1485 cystic fibrosis ISO RGD:732847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16463024 11986089 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:2661 myoepithelioma ISO RGD:732847 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11986089 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:4479 pseudohypoaldosteronism ISO RGD:732847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8640238 11986089 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:4479 pseudohypoaldosteronism ISO RGD:732847 D RGD:9068941 20200609 RGD PHA type I,OMIM:264350;DNA:splice-site mutation:318-1G>A PMID:8640238|REF_RGD_ID:1624147 11986089 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:630 genetic disease ISO RGD:732847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11986089 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:9005031 Liddle Syndrome 1 ISO RGD:732847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Liddle syndrome 1 11986089 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:9006024 Hypotension ISO RGD:732847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11463765 11986089 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:9006708 PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE ISO RGD:732847 D RGD:7240710 20230308 OMIM 11986089 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:9006708 PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE ISO RGD:732847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pseudohypoaldosteronism, type IB3, autosomal recessive PMID:11231969|PMID:8640238 11986089 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:9007420 Liddle Syndrome 2 ISO RGD:732847 D RGD:7240710 20190315 OMIM 11986089 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:9007420 Liddle Syndrome 2 ISO RGD:732847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Liddle syndrome 2 PMID:10391210|PMID:12473862|PMID:15198480|PMID:17460608|PMID:17634077|PMID:18507830|PMID:19462466|PMID:20376790|PMID:21956615|PMID:22995991|PMID:23149595|PMID:24033266|PMID:24882431|PMID:25741868|PMID:25900089|PMID:26135620|PMID:26467025|PMID:26537344|PMID:27884173|PMID:28492532|PMID:28497567|PMID:29229744|PMID:31655555|PMID:7550319 11986129 LOC100969089 putative claudin-24 gene DOID:630 genetic disease ISO RGD:3378218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11986132 SLC6A16 solute carrier family 6 member 16 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1353315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11986132 SLC6A16 solute carrier family 6 member 16 gene DOID:630 genetic disease ISO RGD:1353315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11986160 CYP11B1 cytochrome P450 family 11 subfamily B member 1 gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:70835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia PMID:12452430|PMID:15026188|PMID:15062555|PMID:16046588|PMID:16670167|PMID:17371482|PMID:19204079|PMID:19844114|PMID:20089618|PMID:22333028|PMID:22964742|PMID:23940125|PMID:25525159|PMID:25741868|PMID:25911436|PMID:25913739|PMID:26053152|PMID:26467025|PMID:26476331|PMID:26806323|PMID:26956189|PMID:27316665|PMID:28492532|PMID:28514642|PMID:29626607|PMID:30223866|PMID:32203225|PMID:33275286|PMID:33785438|PMID:33830237|PMID:33864926|PMID:8506298|PMID:9302260|PMID:9546661 11986160 CYP11B1 cytochrome P450 family 11 subfamily B member 1 gene DOID:0050891 adrenal cortical adenoma ISO RGD:70835 D RGD:9068941 20200611 RGD mRNA:decreased expression:adrenal gland (human) PMID:12457455|REF_RGD_ID:4891170 11986160 CYP11B1 cytochrome P450 family 11 subfamily B member 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:70835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 11986160 CYP11B1 cytochrome P450 family 11 subfamily B member 1 gene DOID:10763 hypertension ISO RGD:2454 D RGD:9068941 20220107 RGD PMID:18495825|REF_RGD_ID:2307304 11986160 CYP11B1 cytochrome P450 family 11 subfamily B member 1 gene DOID:10763 hypertension ISO RGD:2454 D RGD:9068941 20220107 RGD mRNA:increased expression:brainstem, hippocampus, cortex (rat) PMID:19837774|REF_RGD_ID:4891156 11986160 CYP11B1 cytochrome P450 family 11 subfamily B member 1 gene DOID:114 heart disease ISO RGD:2454 D RGD:9068941 20220107 RGD PMID:15364804|REF_RGD_ID:2307309 11986160 CYP11B1 cytochrome P450 family 11 subfamily B member 1 gene DOID:14080 glucocorticoid-remediable aldosteronism ISO RGD:70835 D RGD:7240710 20200610 OMIM 11986160 CYP11B1 cytochrome P450 family 11 subfamily B member 1 gene DOID:14080 glucocorticoid-remediable aldosteronism ISO RGD:70835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE | ClinVar Annotator: match by term: Glucocorticoid-remediable aldosteronism | ClinVar Annotator: match by term: Hyperaldosteronism, familial, type I PMID:10487675|PMID:11095433|PMID:11549691|PMID:12452430|PMID:12966519|PMID:15026188|PMID:15062555|PMID:15751602|PMID:15755848|PMID:15807871|PMID:16030166|PMID:16046588|PMID:16670167|PMID:16984984|PMID:17121536|PMID:17296872|PMID:17371482|PMID:17576681|PMID:17692261|PMID:17726333|PMID:18204274|PMID:19567537|PMID:19820005|PMID:19844114|PMID:20024693|PMID:20089618|PMID:2022736|PMID:22333028|PMID:22465514|PMID:22964742|PMID:23345044|PMID:24022297|PMID:24033266|PMID:24536089|PMID:25525159|PMID:25741868|PMID:25911436|PMID:25913739|PMID:26053152|PMID:26300845|PMID:26467025|PMID:26476331|PMID:26956189|PMID:27376426|PMID:27376433|PMID:27821898|PMID:28228528|PMID:28492532|PMID:28514642|PMID:30223866|PMID:30242600|PMID:32850530|PMID:33275286|PMID:33864926|PMID:7049883|PMID:7903314|PMID:8004113|PMID:8506298|PMID:8768848|PMID:8964882|PMID:8989319|PMID:9302260|PMID:9435454|PMID:9536098|PMID:9546661 11986160 CYP11B1 cytochrome P450 family 11 subfamily B member 1 gene DOID:14219 renal tubular acidosis ISO RGD:2454 D RGD:9068941 20220107 RGD mRNA:increased expression:adrenal gland (rat) PMID:16495212|REF_RGD_ID:4891416 11986160 CYP11B1 cytochrome P450 family 11 subfamily B member 1 gene DOID:446 primary hyperaldosteronism ISO RGD:70835 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:11085685 11986160 CYP11B1 cytochrome P450 family 11 subfamily B member 1 gene DOID:446 primary hyperaldosteronism ISO RGD:70835 D RGD:9068941 20200611 RGD DNA:gene fusion:intron:Cyp11b2 (human) PMID:1731223|REF_RGD_ID:4891155 11986160 CYP11B1 cytochrome P450 family 11 subfamily B member 1 gene DOID:4621 holoprosencephaly ISO RGD:70835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11986160 CYP11B1 cytochrome P450 family 11 subfamily B member 1 gene DOID:5844 myocardial infarction ISO RGD:2454 D RGD:9068941 20220107 RGD PMID:18689429|REF_RGD_ID:2307303 11986160 CYP11B1 cytochrome P450 family 11 subfamily B member 1 gene DOID:6000 congestive heart failure ISO RGD:2454 D RGD:9068941 20220107 RGD protein:increased expression:heart (rat) PMID:19571523|REF_RGD_ID:4891162 11986160 CYP11B1 cytochrome P450 family 11 subfamily B member 1 gene DOID:630 genetic disease ISO RGD:70835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11986160 CYP11B1 cytochrome P450 family 11 subfamily B member 1 gene DOID:820 myocarditis ISO RGD:2454 D RGD:9068941 20220107 RGD protein:increased expression:myocardium PMID:18154949|REF_RGD_ID:2307306 11986160 CYP11B1 cytochrome P450 family 11 subfamily B member 1 gene DOID:9000784 Fibrosis ISO RGD:2454 D RGD:9068941 20220107 RGD protein:increased expression:liver (rat) PMID:16938653|REF_RGD_ID:4891377 11986160 CYP11B1 cytochrome P450 family 11 subfamily B member 1 gene DOID:9001542 Albuminuria ISO RGD:2454 D RGD:9068941 20220107 RGD PMID:15939810|REF_RGD_ID:2307307 11986160 CYP11B1 cytochrome P450 family 11 subfamily B member 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2454 D RGD:9068941 20220107 RGD mRNA:increased expression:fetus, adrenal gland (rat) PMID:19923365|REF_RGD_ID:4891147 11986160 CYP11B1 cytochrome P450 family 11 subfamily B member 1 gene DOID:9003936 Cardiomegaly ISO RGD:2454 D RGD:9068941 20220107 RGD PMID:15939810|REF_RGD_ID:2307307 11986160 CYP11B1 cytochrome P450 family 11 subfamily B member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2454 D RGD:9068941 20220107 RGD mRNA:increased expression:kidney PMID:18582458|REF_RGD_ID:2307289 11986160 CYP11B1 cytochrome P450 family 11 subfamily B member 1 gene DOID:9005925 Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency ISO RGD:70835 D RGD:7240710 20200610 OMIM 11986160 CYP11B1 cytochrome P450 family 11 subfamily B member 1 gene DOID:9005925 Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency ISO RGD:70835 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY | ClinVar Annotator: match by term: Adrenal hyperplasia hypertensive form | ClinVar Annotator: match by term: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: P450c11b1 deficiency PMID:10487675|PMID:11095433|PMID:11549691|PMID:12452430|PMID:12966519|PMID:1430088|PMID:15026188|PMID:15062555|PMID:15324322|PMID:15751602|PMID:15755848|PMID:15807871|PMID:16030166|PMID:16046588|PMID:16670167|PMID:16984984|PMID:17121536|PMID:17296872|PMID:17371482|PMID:17692261|PMID:17726333|PMID:18663314|PMID:19204079|PMID:19820005|PMID:19844114|PMID:20024693|PMID:20089618|PMID:2022736|PMID:22465514|PMID:22964742|PMID:23345044|PMID:23940125|PMID:23940126|PMID:24022297|PMID:24033266|PMID:24334966|PMID:24536089|PMID:24987415|PMID:25525159|PMID:25741868|PMID:25911436|PMID:25913739|PMID:26053152|PMID:26066897|PMID:26265915|PMID:26280318|PMID:26300845|PMID:26467025|PMID:26476331|PMID:26525354|PMID:26806323|PMID:26956189|PMID:27376426|PMID:27376433|PMID:27821898|PMID:28228528|PMID:28492532|PMID:28514642|PMID:28962970|PMID:29626607|PMID:30223866|PMID:32203225|PMID:3295546|PMID:33275286|PMID:33864926|PMID:7049883|PMID:7903314|PMID:8506298|PMID:8768848|PMID:8964882|PMID:8989319|PMID:9302260|PMID:9435454|PMID:9546661 11986160 CYP11B1 cytochrome P450 family 11 subfamily B member 1 gene DOID:9005925 Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency ISO RGD:70835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY | ClinVar Annotator: match by term: Adrenal hyperplasia hypertensive form | ClinVar Annotator: match by term: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: P450c11b1 deficiency PMID:10487675|PMID:11095433|PMID:11549691|PMID:12452430|PMID:12966519|PMID:1430088|PMID:15026188|PMID:15062555|PMID:15324322|PMID:15751602|PMID:15755848|PMID:15807871|PMID:16030166|PMID:16046588|PMID:16199547|PMID:16670167|PMID:16984984|PMID:17121536|PMID:17296872|PMID:17371482|PMID:17576681|PMID:17692261|PMID:17726333|PMID:18204274|PMID:18663314|PMID:19204079|PMID:19820005|PMID:19844114|PMID:20024693|PMID:20089618|PMID:2022736|PMID:20529578|PMID:20947076|PMID:22333028|PMID:22465514|PMID:22964742|PMID:23345044|PMID:23940125|PMID:23940126|PMID:24022297|PMID:24033266|PMID:24334966|PMID:24536089|PMID:24987415|PMID:25525159|PMID:25741868|PMID:25911436|PMID:25913739|PMID:26053152|PMID:26066897|PMID:26265915|PMID:26280318|PMID:26300845|PMID:26467025|PMID:26476331|PMID:26525354|PMID:26806323|PMID:26956189|PMID:27376426|PMID:27376433|PMID:27821898|PMID:28228528|PMID:28492532|PMID:28514642|PMID:28962970|PMID:29626607|PMID:29858860|PMID:29909741|PMID:30223866|PMID:31006099|PMID:32203225|PMID:32561571|PMID:3295546|PMID:33275286|PMID:33864926|PMID:7049883|PMID:7903314|PMID:8004113|PMID:8506298|PMID:8768848|PMID:8964882|PMID:8989319|PMID:9302260|PMID:9435454|PMID:9536098|PMID:9546661 11986172 FRMD6 FERM domain containing 6 gene DOID:630 genetic disease ISO RGD:1347019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11986208 CBX5 chromobox 5 gene DOID:10283 prostate cancer ISO RGD:1315340 D RGD:9068941 20200609 RGD protein:increased expression:prostate: PMID:18436254|REF_RGD_ID:9586744 11986208 CBX5 chromobox 5 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1315340 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung: PMID:22900142|REF_RGD_ID:9586743 11986208 CBX5 chromobox 5 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1315340 D RGD:9068941 20200609 RGD associated with Lung Neoplasms; PMID:22900142|REF_RGD_ID:9586743 11986208 CBX5 chromobox 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11986208 CBX5 chromobox 5 gene DOID:9005172 Lung Neoplasms ISO RGD:1315340 D RGD:9068941 20200609 RGD PMID:22900142|REF_RGD_ID:9586743 11986208 CBX5 chromobox 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1315340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 11986232 MUL1 mitochondrial E3 ubiquitin protein ligase 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1606503 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11986232 MUL1 mitochondrial E3 ubiquitin protein ligase 1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1606503 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11986232 MUL1 mitochondrial E3 ubiquitin protein ligase 1 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1606503 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11986232 MUL1 mitochondrial E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1606503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11986232 MUL1 mitochondrial E3 ubiquitin protein ligase 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1606503 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11986240 JKAMP JNK1/MAPK8 associated membrane protein gene DOID:630 genetic disease ISO RGD:1318960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11986264 MLLT6 MLLT6, PHD finger containing gene DOID:630 genetic disease ISO RGD:1315450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11986286 ADGRG6 adhesion G protein-coupled receptor G6 gene DOID:0060250 idiopathic scoliosis ISO RGD:1318390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23666238 11986286 ADGRG6 adhesion G protein-coupled receptor G6 gene DOID:0060250 idiopathic scoliosis ISO RGD:1551030 D RGD:9068941 20220825 MouseDO 11986286 ADGRG6 adhesion G protein-coupled receptor G6 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1318390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:26004201|PMID:26752647 11986286 ADGRG6 adhesion G protein-coupled receptor G6 gene DOID:3910 lung adenocarcinoma ISO RGD:1318390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 11986286 ADGRG6 adhesion G protein-coupled receptor G6 gene DOID:630 genetic disease ISO RGD:1318390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11986286 ADGRG6 adhesion G protein-coupled receptor G6 gene DOID:9001538 Lethal Congenital Contracture Syndrome 9 ISO RGD:1318390 D RGD:7240710 20190315 OMIM 11986286 ADGRG6 adhesion G protein-coupled receptor G6 gene DOID:9001538 Lethal Congenital Contracture Syndrome 9 ISO RGD:1318390 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 9 PMID:25741868|PMID:26004201|PMID:26752647|PMID:28492532 11986326 CLCN5 chloride voltage-gated channel 5 gene DOID:0050699 Dent disease ISO RGD:733029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dent disease PMID:15814539|PMID:28492532 11986326 CLCN5 chloride voltage-gated channel 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11986326 CLCN5 chloride voltage-gated channel 5 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:733029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 11986326 CLCN5 chloride voltage-gated channel 5 gene DOID:0080353 X-linked recessive hypophosphatemic rickets ISO RGD:733029 D RGD:7240710 20181017 OMIM 11986326 CLCN5 chloride voltage-gated channel 5 gene DOID:0080353 X-linked recessive hypophosphatemic rickets ISO RGD:733029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive PMID:11136179|PMID:15719255|PMID:15895257|PMID:16822791|PMID:18038239|PMID:19076289|PMID:19546586|PMID:19546591|PMID:22876375|PMID:24081861|PMID:25741868|PMID:25907713|PMID:26822237|PMID:27117801|PMID:27889724|PMID:28492532|PMID:28580211|PMID:31672324|PMID:32683654|PMID:7915957|PMID:8559248|PMID:9187673|PMID:9734595 11986326 CLCN5 chloride voltage-gated channel 5 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:733029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11986326 CLCN5 chloride voltage-gated channel 5 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:733029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11986326 CLCN5 chloride voltage-gated channel 5 gene DOID:0111798 X-linked nephrolithiasis type I ISO RGD:733029 D RGD:7240710 20180130 OMIM 11986326 CLCN5 chloride voltage-gated channel 5 gene DOID:0111798 X-linked nephrolithiasis type I ISO RGD:733029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: UROLITHIASIS, X-LINKED RECESSIVE, TYPE 1 | ClinVar Annotator: match by term: X-linked recessive nephrolithiasis with renal failure PMID:11136179|PMID:12637640|PMID:15719255|PMID:15895257|PMID:16822791|PMID:18038239|PMID:19076289|PMID:19546586|PMID:19546591|PMID:22876375|PMID:24081861|PMID:25741868|PMID:25907713|PMID:26822237|PMID:27117801|PMID:27889724|PMID:28492532|PMID:28580211|PMID:31672324|PMID:32683654|PMID:7915957|PMID:8559248|PMID:9187673|PMID:9602200|PMID:9734595 11986326 CLCN5 chloride voltage-gated channel 5 gene DOID:0111815 low molecular weight proteinuria with hypercalciuric nephrocalcinosis ISO RGD:733029 D RGD:7240710 20180130 OMIM 11986326 CLCN5 chloride voltage-gated channel 5 gene DOID:0111815 low molecular weight proteinuria with hypercalciuric nephrocalcinosis ISO RGD:733029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis PMID:11136179|PMID:15719255|PMID:15895257|PMID:16822791|PMID:18038239|PMID:19076289|PMID:19546586|PMID:19546591|PMID:22876375|PMID:24081861|PMID:25741868|PMID:25907713|PMID:26822237|PMID:27117801|PMID:27889724|PMID:28492532|PMID:28580211|PMID:31672324|PMID:32683654|PMID:7915957|PMID:8559248|PMID:9062355|PMID:9187673|PMID:9734595 11986326 CLCN5 chloride voltage-gated channel 5 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:733029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11986326 CLCN5 chloride voltage-gated channel 5 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:733029 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 11986326 CLCN5 chloride voltage-gated channel 5 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:733029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 11986326 CLCN5 chloride voltage-gated channel 5 gene DOID:1184 nephrotic syndrome ISO RGD:733029 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868 11986326 CLCN5 chloride voltage-gated channel 5 gene DOID:12176 goiter ISO RGD:733029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16306076 11986326 CLCN5 chloride voltage-gated channel 5 gene DOID:12849 autistic disorder ISO RGD:733029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11986326 CLCN5 chloride voltage-gated channel 5 gene DOID:3070 high grade glioma ISO RGD:733029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12843258 11986326 CLCN5 chloride voltage-gated channel 5 gene DOID:447 renal tubular transport disease ISO RGD:2362 D RGD:9068941 20200609 RGD PMID:12475763|REF_RGD_ID:628538 11986326 CLCN5 chloride voltage-gated channel 5 gene DOID:576 proteinuria ISO RGD:733029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15719255 11986326 CLCN5 chloride voltage-gated channel 5 gene DOID:630 genetic disease ISO RGD:733029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10906159|PMID:22876375|PMID:25741868|PMID:25907713|PMID:28166811|PMID:28492532|PMID:9734595 11986326 CLCN5 chloride voltage-gated channel 5 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:733029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:14673707|PMID:25741868|PMID:28492532 11986326 CLCN5 chloride voltage-gated channel 5 gene DOID:9001961 Hyperkalemia ISO RGD:733029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemia PMID:25741868 11986326 CLCN5 chloride voltage-gated channel 5 gene DOID:9007505 Familial Hypophosphatemic Rickets ISO RGD:733029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11986326 CLCN5 chloride voltage-gated channel 5 gene DOID:9008579 Dent Disease 1 ISO RGD:733029 D RGD:7240710 20180130 OMIM 11986326 CLCN5 chloride voltage-gated channel 5 gene DOID:9008579 Dent Disease 1 ISO RGD:733029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NEPHROLITHIASIS, HYPERCALCIURIC, X-LINKED | ClinVar Annotator: match by term: Nephrolithiasis 2 PMID:10469281|PMID:10906159|PMID:11136179|PMID:12637640|PMID:14569459|PMID:15052463|PMID:15086899|PMID:15719255|PMID:15895257|PMID:16041495|PMID:16247550|PMID:16822791|PMID:16861240|PMID:18038239|PMID:18184518|PMID:19076289|PMID:19546586|PMID:19546591|PMID:19657328|PMID:19673950|PMID:19806368|PMID:21305656|PMID:22876375|PMID:24081861|PMID:25001568|PMID:25326635|PMID:25741868|PMID:25907713|PMID:26822237|PMID:27117801|PMID:27889724|PMID:28492532|PMID:28580211|PMID:30773290|PMID:31672324|PMID:31674016|PMID:31852738|PMID:32289351|PMID:32683654|PMID:33532864|PMID:35738466|PMID:7874126|PMID:7915957|PMID:8559248|PMID:8950885|PMID:9062355|PMID:9187673|PMID:9259268|PMID:9328929|PMID:9734595|PMID:9853249 11986356 SLC30A7 solute carrier family 30 member 7 gene DOID:1826 epilepsy ISO RGD:1317319 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11986356 SLC30A7 solute carrier family 30 member 7 gene DOID:630 genetic disease ISO RGD:1317319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11986356 SLC30A7 solute carrier family 30 member 7 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1317319 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17068819 11986356 SLC30A7 solute carrier family 30 member 7 gene DOID:9008919 Neurodevelopmental Disorder with Short Stature, Prominent Forehead, and Feeding Difficulties ISO RGD:1317319 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties PMID:25741868|PMID:35482014 11986356 SLC30A7 solute carrier family 30 member 7 gene DOID:9269 maple syrup urine disease ISO RGD:1317319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 11986374 FGFBP2 fibroblast growth factor binding protein 2 gene DOID:0050777 Joubert syndrome ISO RGD:1602454 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11986374 FGFBP2 fibroblast growth factor binding protein 2 gene DOID:0080600 COVID-19 ISO RGD:1602454 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD8+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 11986374 FGFBP2 fibroblast growth factor binding protein 2 gene DOID:630 genetic disease ISO RGD:1602454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11986380 ADARB2 adenosine deaminase RNA specific B2 (inactive) gene DOID:13938 amenorrhea ISO RGD:736199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11986380 ADARB2 adenosine deaminase RNA specific B2 (inactive) gene DOID:14330 Parkinson's disease ISO RGD:736199 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 11986380 ADARB2 adenosine deaminase RNA specific B2 (inactive) gene DOID:303 substance-related disorder ISO RGD:736199 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11986380 ADARB2 adenosine deaminase RNA specific B2 (inactive) gene DOID:630 genetic disease ISO RGD:736199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11986394 BAG3 BAG cochaperone 3 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1317192 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:21898660|PMID:23861362|PMID:25741868|PMID:28492532|PMID:29382405|PMID:30615648|PMID:33658040|PMID:34426522 11986394 BAG3 BAG cochaperone 3 gene DOID:0050700 cardiomyopathy ISO RGD:1317192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:27042682|PMID:28166811|PMID:28492532 11986394 BAG3 BAG cochaperone 3 gene DOID:0050700 cardiomyopathy ISO RGD:1317192 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:21459883|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27042682|PMID:28492532 11986394 BAG3 BAG cochaperone 3 gene DOID:0050700 cardiomyopathy ISO RGD:1317192 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:21459883|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27042682|PMID:28492532 11986394 BAG3 BAG cochaperone 3 gene DOID:0060224 atrial fibrillation ISO RGD:1317192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:24033266|PMID:25741868|PMID:28492532 11986394 BAG3 BAG cochaperone 3 gene DOID:0060480 left ventricular noncompaction ISO RGD:1317192 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:21353195|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28254189|PMID:28492532|PMID:30847666 11986394 BAG3 BAG cochaperone 3 gene DOID:0080097 myofibrillar myopathy 6 ISO RGD:1317192 D RGD:7240710 20180130 OMIM 11986394 BAG3 BAG cochaperone 3 gene DOID:0080097 myofibrillar myopathy 6 ISO RGD:1317192 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 6 | ClinVar Annotator: match by term: Myofibrillar myopathy, BAG3-related PMID:16199547|PMID:17576681|PMID:19085932|PMID:20301672|PMID:20605452|PMID:21353195|PMID:21361913|PMID:21459883|PMID:2159883|PMID:21676617|PMID:21898660|PMID:22337857|PMID:22734908|PMID:23582692|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25208129|PMID:25273835|PMID:25326635|PMID:25448463|PMID:25617006|PMID:25640679|PMID:25728519|PMID:25741868|PMID:25925243|PMID:26272908|PMID:26383716|PMID:26392352|PMID:26467025|PMID:26512958|PMID:26545904|PMID:26899768|PMID:27042682|PMID:27164712|PMID:27321750|PMID:27443559|PMID:27896284|PMID:28224639|PMID:28254189|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28611029|PMID:28669108|PMID:28704380|PMID:28737513|PMID:28750076|PMID:28754666|PMID:28798025|PMID:29016939|PMID:29247119|PMID:29338979|PMID:29382405|PMID:29892087|PMID:29961767|PMID:30012837|PMID:30061062|PMID:30140897|PMID:30145633|PMID:30373780|PMID:30377383|PMID:30384889|PMID:30442290|PMID:30559338|PMID:30615648|PMID:30847666|PMID:31333075|PMID:31395899|PMID:31514951|PMID:31568572|PMID:31723063|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32160020|PMID:32458740|PMID:32472079|PMID:32746448|PMID:32859500|PMID:33146414|PMID:33658040|PMID:33874732|PMID:33917638|PMID:34036930|PMID:34117258|PMID:34213952|PMID:34426522|PMID:35029900|PMID:35732239|PMID:9536098 11986394 BAG3 BAG cochaperone 3 gene DOID:0080307 myofibrillar myopathy ISO RGD:1317192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant | ClinVar Annotator: match by term: Myofibrillar myopathy PMID:21361913|PMID:21898660|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 11986394 BAG3 BAG cochaperone 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1317192 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25741868|PMID:28492532|PMID:31395899 11986394 BAG3 BAG cochaperone 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317192 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:28492532|PMID:31395899 11986394 BAG3 BAG cochaperone 3 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1317192 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:21353195|PMID:24033266|PMID:25741868|PMID:28436997|PMID:28492532|PMID:28669108|PMID:32160020 11986394 BAG3 BAG cochaperone 3 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1317192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:21353195|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28669108 11986394 BAG3 BAG cochaperone 3 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1317192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL DILATED, 1 | ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:21459883|PMID:24033266|PMID:24558114|PMID:25008357|PMID:25448463|PMID:25741868|PMID:28436997|PMID:28492532|PMID:32160020|PMID:34213952 11986394 BAG3 BAG cochaperone 3 gene DOID:0110448 dilated cardiomyopathy 1HH ISO RGD:1317192 D RGD:7240710 20180130 OMIM 11986394 BAG3 BAG cochaperone 3 gene DOID:0110448 dilated cardiomyopathy 1HH ISO RGD:1317192 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1HH PMID:17576681|PMID:19085932|PMID:20301672|PMID:20605452|PMID:21353195|PMID:21361913|PMID:21459883|PMID:2159883|PMID:21676617|PMID:21898660|PMID:22337857|PMID:22734908|PMID:23582692|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25208129|PMID:25273835|PMID:25326635|PMID:25448463|PMID:25617006|PMID:25728519|PMID:25741868|PMID:25925243|PMID:26272908|PMID:26392352|PMID:26467025|PMID:26512958|PMID:26545904|PMID:26899768|PMID:27042682|PMID:27164712|PMID:27321750|PMID:27443559|PMID:27896284|PMID:28224639|PMID:28254189|PMID:28359509|PMID:28436997|PMID:28492532|PMID:28669108|PMID:28737513|PMID:28750076|PMID:28754666|PMID:28798025|PMID:29016939|PMID:29338979|PMID:29382405|PMID:30012837|PMID:30061062|PMID:30140897|PMID:30145633|PMID:30373780|PMID:30377383|PMID:30384889|PMID:30442290|PMID:30559338|PMID:30615648|PMID:30847666|PMID:31333075|PMID:31395899|PMID:31514951|PMID:31568572|PMID:31723063|PMID:31931689|PMID:31983221|PMID:32160020|PMID:32458740|PMID:32746448|PMID:33146414|PMID:33658040|PMID:33917638|PMID:34036930|PMID:34117258|PMID:34213952|PMID:34426522|PMID:35029900|PMID:9536098 11986394 BAG3 BAG cochaperone 3 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1317192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:28492532 11986394 BAG3 BAG cochaperone 3 gene DOID:11832 visual epilepsy ISO RGD:1307794 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, astrocyte PMID:12085992|REF_RGD_ID:2325847 11986394 BAG3 BAG cochaperone 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 11986394 BAG3 BAG cochaperone 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21353195|PMID:21459883|PMID:2159883|PMID:21898660|PMID:22337857|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25448463|PMID:25728519|PMID:25741868|PMID:25925243|PMID:26467025|PMID:27042682|PMID:27896284|PMID:28166811|PMID:28436997|PMID:28492532|PMID:28669108|PMID:28737513|PMID:28798025|PMID:30012837|PMID:31333075|PMID:31568572 11986394 BAG3 BAG cochaperone 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317192 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21353195|PMID:21459883|PMID:2159883|PMID:21898660|PMID:22337857|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25448463|PMID:25728519|PMID:25741868|PMID:25925243|PMID:26467025|PMID:27042682|PMID:27896284|PMID:28166811|PMID:28436997|PMID:28492532|PMID:28669108|PMID:28737513|PMID:28798025|PMID:30012837|PMID:31333075|PMID:31568572|PMID:34213952 11986394 BAG3 BAG cochaperone 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317192 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21353195|PMID:21459883|PMID:2159883|PMID:21898660|PMID:22337857|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25448463|PMID:25728519|PMID:25741868|PMID:25925243|PMID:26467025|PMID:27042682|PMID:27896284|PMID:28166811|PMID:28436997|PMID:28492532|PMID:28669108|PMID:28737513|PMID:28798025|PMID:30012837|PMID:30847666|PMID:31333075|PMID:31568572|PMID:34213952 11986394 BAG3 BAG cochaperone 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317192 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21353195|PMID:21459883|PMID:2159883|PMID:21898660|PMID:22337857|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25448463|PMID:25728519|PMID:25741868|PMID:25925243|PMID:26467025|PMID:27042682|PMID:27896284|PMID:28166811|PMID:28436997|PMID:28492532|PMID:28669108|PMID:28737513|PMID:28798025|PMID:30012837|PMID:30442290|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32458740|PMID:34213952 11986394 BAG3 BAG cochaperone 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317192 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21353195|PMID:21459883|PMID:2159883|PMID:21898660|PMID:22337857|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25448463|PMID:25728519|PMID:25741868|PMID:25925243|PMID:26467025|PMID:26512958|PMID:27042682|PMID:27896284|PMID:28436997|PMID:28492532|PMID:28669108|PMID:28737513|PMID:28798025|PMID:30012837|PMID:30442290|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32458740|PMID:34213952 11986394 BAG3 BAG cochaperone 3 gene DOID:1793 pancreatic cancer ISO RGD:1317192 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:11513873|REF_RGD_ID:2325843 11986394 BAG3 BAG cochaperone 3 gene DOID:3068 glioblastoma treatment ISO RGD:1307794 D RGD:9068941 20200609 RGD PMID:21561597|REF_RGD_ID:5687132 11986394 BAG3 BAG cochaperone 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1317192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17187345 11986394 BAG3 BAG cochaperone 3 gene DOID:574 peripheral nervous system disease ISO RGD:1317192 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:19085932|PMID:20301672|PMID:20605452|PMID:21361913|PMID:21676617|PMID:21898660|PMID:22734908|PMID:25208129|PMID:25273835|PMID:25326635|PMID:25728519|PMID:25741868|PMID:26545904|PMID:27164712|PMID:27321750|PMID:27443559|PMID:28224639|PMID:28492532|PMID:29338979|PMID:30061062|PMID:30145633|PMID:30384889|PMID:33146414|PMID:34117258|PMID:35029900 11986394 BAG3 BAG cochaperone 3 gene DOID:630 genetic disease ISO RGD:1317192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11986394 BAG3 BAG cochaperone 3 gene DOID:820 myocarditis ISO RGD:1317192 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myocarditis PMID:21459883|PMID:24033266|PMID:24558114|PMID:25008357|PMID:25448463|PMID:25741868|PMID:28492532|PMID:34213952 11986394 BAG3 BAG cochaperone 3 gene DOID:870 neuropathy ISO RGD:1317192 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:19085932|PMID:20301672|PMID:20605452|PMID:21361913|PMID:21676617|PMID:21898660|PMID:22734908|PMID:25208129|PMID:25273835|PMID:25326635|PMID:25728519|PMID:25741868|PMID:26545904|PMID:27164712|PMID:27321750|PMID:27443559|PMID:28224639|PMID:28492532|PMID:29338979|PMID:30061062|PMID:30145633|PMID:30384889|PMID:33146414|PMID:34117258|PMID:35029900 11986394 BAG3 BAG cochaperone 3 gene DOID:9004009 Reperfusion Injury ISO RGD:1307794 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, astrocyte PMID:12061864|REF_RGD_ID:2325848 11986394 BAG3 BAG cochaperone 3 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:1317192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction PMID:25741868|PMID:28492532 11986407 XKR5 XK related 5 gene DOID:630 genetic disease ISO RGD:1604445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11986424 TCHHL1 trichohyalin like 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1605587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11986424 TCHHL1 trichohyalin like 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11986424 TCHHL1 trichohyalin like 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605587 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11986424 TCHHL1 trichohyalin like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1605587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11986424 TCHHL1 trichohyalin like 1 gene DOID:5812 MHC class II deficiency ISO RGD:1605587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11986424 TCHHL1 trichohyalin like 1 gene DOID:630 genetic disease ISO RGD:1605587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11986424 TCHHL1 trichohyalin like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11986431 P2RY13 purinergic receptor P2Y13 gene DOID:0050579 glycogen storage disease XV ISO RGD:1602708 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 11986431 P2RY13 purinergic receptor P2Y13 gene DOID:630 genetic disease ISO RGD:1602708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11986437 GABRA4 gamma-aminobutyric acid type A receptor subunit alpha4 gene DOID:12849 autistic disorder ISO RGD:734147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16080114|PMID:16770606 11986437 GABRA4 gamma-aminobutyric acid type A receptor subunit alpha4 gene DOID:12849 autistic disorder ISO RGD:734147 D RGD:9068941 20200609 RGD PMID:20066485|REF_RGD_ID:6480253 11986437 GABRA4 gamma-aminobutyric acid type A receptor subunit alpha4 gene DOID:12849 autistic disorder ISO RGD:734147 D RGD:9068941 20200609 RGD DNA:SNPs: :rs17599165, rs1912960,rs17599416,rs7660336, rs2280073,rs16859788 (human) PMID:16770606|REF_RGD_ID:6480254 11986437 GABRA4 gamma-aminobutyric acid type A receptor subunit alpha4 gene DOID:630 genetic disease ISO RGD:734147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11986437 GABRA4 gamma-aminobutyric acid type A receptor subunit alpha4 gene DOID:9004866 Ataxia ISO RGD:734147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16091474 11986456 CIAO2B cytosolic iron-sulfur assembly component 2B gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1602116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11986456 CIAO2B cytosolic iron-sulfur assembly component 2B gene DOID:0110255 cataract 5 multiple types ISO RGD:1602116 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 11986456 CIAO2B cytosolic iron-sulfur assembly component 2B gene DOID:630 genetic disease ISO RGD:1602116 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11986465 UBR4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1350466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11986465 UBR4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1350466 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11986465 UBR4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1350466 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11986465 UBR4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1350466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11986465 UBR4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:2843 long QT syndrome ISO RGD:1350466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11986465 UBR4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:5426 primary ovarian insufficiency ISO RGD:1350466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 11986465 UBR4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:630 genetic disease ISO RGD:1350466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11986465 UBR4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11986465 UBR4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1350466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11986465 UBR4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:9007661 Dwarfism ISO RGD:1350466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11986465 UBR4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:9008582 Developmental Disease ISO RGD:1350466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11986627 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:0070221 progressive familial intrahepatic cholestasis ISO RGD:730944 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis PMID:10579978|PMID:12370274|PMID:12717091|PMID:15300568|PMID:16039748|PMID:16290310|PMID:16641580|PMID:17855769|PMID:18395098|PMID:18692205|PMID:19101985|PMID:19750581|PMID:20232290|PMID:20683201|PMID:22364601|PMID:24339557|PMID:25741868|PMID:26382629|PMID:26678486|PMID:26858187|PMID:27050426|PMID:27114171|PMID:27426735|PMID:28027573|PMID:28492532|PMID:28733223|PMID:29104077|PMID:29412511|PMID:30210030|PMID:31745229|PMID:32087350|PMID:32309332|PMID:32581362|PMID:32808743|PMID:32860008|PMID:33215027|PMID:33915153|PMID:34016879|PMID:9806540 11986627 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:0070222 progressive familial intrahepatic cholestasis 2 ISO RGD:730944 D RGD:7240710 20180130 OMIM 11986627 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:0070222 progressive familial intrahepatic cholestasis 2 ISO RGD:730944 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial intrahepatic cholestasis type 2 | ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2 PMID:10579978|PMID:12370274|PMID:12717091|PMID:14672610|PMID:14999697|PMID:15077010|PMID:15300568|PMID:15317749|PMID:15791618|PMID:16039748|PMID:16199547|PMID:16290310|PMID:16641580|PMID:16763017|PMID:16871584|PMID:17855769|PMID:17947449|PMID:18395098|PMID:18692205|PMID:18798335|PMID:18937870|PMID:19101985|PMID:19571440|PMID:19750581|PMID:19797282|PMID:19845854|PMID:20010382|PMID:20232290|PMID:20414253|PMID:20583290|PMID:20683201|PMID:20799350|PMID:21404481|PMID:21490445|PMID:22364601|PMID:22609309|PMID:22795478|PMID:23022423|PMID:23279303|PMID:23684896|PMID:23750872|PMID:24033266|PMID:24115678|PMID:24214725|PMID:24231640|PMID:24339557|PMID:24402531|PMID:24530123|PMID:24627769|PMID:24969679|PMID:24991443|PMID:25716872|PMID:25741868|PMID:25771912|PMID:25847299|PMID:26019043|PMID:26382629|PMID:26678486|PMID:26858187|PMID:27050426|PMID:27114171|PMID:27153395|PMID:27239116|PMID:27368585|PMID:27426735|PMID:28027573|PMID:28492532|PMID:28733223|PMID:28776642|PMID:29104077|PMID:29412511|PMID:30210030|PMID:31015375|PMID:31319225|PMID:31745229|PMID:32087350|PMID:32309332|PMID:32581362|PMID:32808743|PMID:32860008|PMID:33915153|PMID:34008892|PMID:9806540 11986627 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:0070222 progressive familial intrahepatic cholestasis 2 disease_progression ISO RGD:730944 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.D482G(human) PMID:20447715|REF_RGD_ID:14402418 11986627 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:0070222 progressive familial intrahepatic cholestasis 2 disease_progression ISO RGD:730944 D RGD:9068941 20200609 RGD DNA:mutation:exon:c.1120G>A(p.Gly374Ser)human PMID:23758865|REF_RGD_ID:14688048 11986627 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:0070223 progressive familial intrahepatic cholestasis 3 ISO RGD:730944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MDR3 deficiency PMID:16641580|PMID:18395098|PMID:19101985|PMID:22364601|PMID:25741868|PMID:27114171|PMID:28492532|PMID:28733223|PMID:33915153 11986627 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:0070226 progressive familial intrahepatic cholestasis 1 ISO RGD:730944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21056966 11986627 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:0070229 intrahepatic cholestasis of pregnancy 3 ISO RGD:730944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 PMID:10579978|PMID:12370274|PMID:12717091|PMID:15300568|PMID:16039748|PMID:16871584|PMID:17855769|PMID:18395098|PMID:18692205|PMID:19101985|PMID:19750581|PMID:20232290|PMID:20583290|PMID:20683201|PMID:23022423|PMID:23279303|PMID:23750872|PMID:24231640|PMID:24339557|PMID:24402531|PMID:25741868|PMID:26126923|PMID:26858187|PMID:27050426|PMID:27153395|PMID:27426735|PMID:28492532|PMID:28733223|PMID:29104077|PMID:29412511|PMID:30091450|PMID:30934130|PMID:31745229|PMID:32309332|PMID:32581362|PMID:32808743|PMID:9806540 11986627 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:0070232 benign recurrent intrahepatic cholestasis 2 ISO RGD:730944 D RGD:7240710 20180130 OMIM 11986627 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:0070232 benign recurrent intrahepatic cholestasis 2 ISO RGD:730944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Benign recurrent intrahepatic cholestasis type 2 PMID:10579978|PMID:12370274|PMID:12717091|PMID:14672610|PMID:15300568|PMID:15791618|PMID:16039748|PMID:16199547|PMID:16641580|PMID:16871584|PMID:17855769|PMID:18395098|PMID:18692205|PMID:18798335|PMID:19101985|PMID:19750581|PMID:20232290|PMID:20583290|PMID:20683201|PMID:23022423|PMID:23279303|PMID:23750872|PMID:24231640|PMID:24339557|PMID:24402531|PMID:24711118|PMID:25716872|PMID:25741868|PMID:25847299|PMID:26019043|PMID:26382629|PMID:26678486|PMID:26858187|PMID:27050426|PMID:27153395|PMID:27426735|PMID:28492532|PMID:28733223|PMID:29104077|PMID:29412511|PMID:31745229|PMID:32309332|PMID:32581362|PMID:32808743|PMID:33215027|PMID:34008892|PMID:34016879|PMID:9806540 11986627 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:12351 alcoholic hepatitis treatment ISO RGD:619930 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 11986627 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:13580 cholestasis ISO RGD:619930 D RGD:9068941 20200609 RGD PMID:12702498|REF_RGD_ID:1598571 11986627 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:13580 cholestasis ISO RGD:619930 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:29087027|REF_RGD_ID:14402412 11986627 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:13580 cholestasis ISO RGD:730944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11179459|PMID:22461449|PMID:24713091 11986627 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:13580 cholestasis susceptibility ISO RGD:730945 D RGD:9068941 20200609 RGD PMID:27593105|REF_RGD_ID:14402414 11986627 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:13580 cholestasis treatment ISO RGD:619930 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:27090119|REF_RGD_ID:15090804 11986627 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:1852 intrahepatic cholestasis ISO RGD:730944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive intrahepatic cholestasis PMID:16641580|PMID:18395098|PMID:19101985|PMID:22364601|PMID:25741868|PMID:27114171|PMID:28492532|PMID:28733223|PMID:33915153 11986627 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:1852 intrahepatic cholestasis susceptibility ISO RGD:730944 D RGD:9068941 20200609 RGD PMID:9806540|REF_RGD_ID:1598583 11986627 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:730944 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11986627 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:2236 congenital afibrinogenemia ISO RGD:730944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22120137 11986627 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:3571 liver cancer ISO RGD:730945 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:29651702|REF_RGD_ID:14402411 11986627 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:5082 liver cirrhosis severity ISO RGD:730944 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNP:cds:1331T>C, p.V444A,(rs2287622)(human) PMID:29755014|REF_RGD_ID:14402415 11986627 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:630 genetic disease ISO RGD:730944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10579978|PMID:18395098|PMID:20232290|PMID:26516723|PMID:28492532 11986627 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:9000808 Hypercholesterolemia ISO RGD:730945 D RGD:9068941 20200609 RGD PMID:21726512|REF_RGD_ID:14688050 11986627 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:619930 D RGD:9068941 20200609 RGD PMID:15853769|REF_RGD_ID:1598580 11986627 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:730944 D RGD:9068941 20200609 RGD DNA:SNP:cds:c.1331T>C (rs2287622)(human) PMID:22681771|REF_RGD_ID:14402416 11986627 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:730944 D RGD:9068941 20200609 RGD DNA:SNP:cds:1331T>C, p.V444A,(rs2287622)(human) PMID:29755014|REF_RGD_ID:14402415 11986627 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:730944 D RGD:9068941 20200609 RGD DNA:SNP:cds:c.1331T>C (rs2287622)(human) PMID:29091211|REF_RGD_ID:14402417 11986627 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:9005930 Endotoxemia ISO RGD:619930 D RGD:9068941 20200609 RGD PMID:9828229|REF_RGD_ID:1598596 11986627 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:9006202 Pruritus ISO RGD:730944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pruritus PMID:15300568|PMID:17855769|PMID:25741868|PMID:28492532|PMID:31015375 11986627 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:730944 D RGD:9068941 20200609 RGD DNA:SNP: :rs2287616(human) PMID:27293027|REF_RGD_ID:14402413 11986627 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 11986627 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:9970 obesity ISO RGD:730945 D RGD:9068941 20200609 RGD PMID:21726512|REF_RGD_ID:14688050 11986659 DENND4A DENN domain containing 4A gene DOID:0110935 nemaline myopathy 6 ISO RGD:1349929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11986659 DENND4A DENN domain containing 4A gene DOID:2717 Bloom syndrome ISO RGD:1349929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11986659 DENND4A DENN domain containing 4A gene DOID:630 genetic disease ISO RGD:1349929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11986659 DENND4A DENN domain containing 4A gene DOID:9256 colorectal cancer ISO RGD:1349929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11986705 TMEM218 transmembrane protein 218 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1332286 D RGD:9068941 20220825 MouseDO OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615 11986705 TMEM218 transmembrane protein 218 gene DOID:0050777 Joubert syndrome ISO RGD:2293899 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:33791682 11986705 TMEM218 transmembrane protein 218 gene DOID:0050777 Joubert syndrome ISO RGD:2293899 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:33791682 11986705 TMEM218 transmembrane protein 218 gene DOID:0070118 Meckel syndrome 4 ISO RGD:2293899 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 4 PMID:25741868|PMID:33791682 11986705 TMEM218 transmembrane protein 218 gene DOID:0110877 holoprosencephaly 11 ISO RGD:2293899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11986705 TMEM218 transmembrane protein 218 gene DOID:0111723 Jacobsen Syndrome ISO RGD:2293899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11986705 TMEM218 transmembrane protein 218 gene DOID:5419 schizophrenia ISO RGD:2293899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11986705 TMEM218 transmembrane protein 218 gene DOID:630 genetic disease ISO RGD:2293899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:33791682 11986705 TMEM218 transmembrane protein 218 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:2293899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11986705 TMEM218 transmembrane protein 218 gene DOID:9004188 Joubert Syndrome 39 ISO RGD:2293899 D RGD:7240710 20211027 OMIM 11986705 TMEM218 transmembrane protein 218 gene DOID:9004188 Joubert Syndrome 39 ISO RGD:2293899 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Joubert syndrome 39 PMID:25741868|PMID:33791682|PMID:35137054 11986705 TMEM218 transmembrane protein 218 gene DOID:9007661 Dwarfism ISO RGD:2293899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11986714 COPRS coordinator of PRMT5 and differentiation stimulator gene DOID:1969 cerebral palsy ISO RGD:1602321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 11986714 COPRS coordinator of PRMT5 and differentiation stimulator gene DOID:630 genetic disease ISO RGD:1602321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11986714 COPRS coordinator of PRMT5 and differentiation stimulator gene DOID:9008086 Developmental Disabilities ISO RGD:1602321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 11986722 ADRM1 ADRM1 26S proteasome ubiquitin receptor gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11986722 ADRM1 ADRM1 26S proteasome ubiquitin receptor gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:736707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11986722 ADRM1 ADRM1 26S proteasome ubiquitin receptor gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11986722 ADRM1 ADRM1 26S proteasome ubiquitin receptor gene DOID:10283 prostate cancer ISO RGD:736707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11986722 ADRM1 ADRM1 26S proteasome ubiquitin receptor gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 11986722 ADRM1 ADRM1 26S proteasome ubiquitin receptor gene DOID:630 genetic disease ISO RGD:736707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11986739 MEPCE methylphosphate capping enzyme gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11986739 MEPCE methylphosphate capping enzyme gene DOID:630 genetic disease ISO RGD:1603022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11986748 ZNF878 zinc finger protein 878 gene DOID:0050990 episodic ataxia type 2 ISO RGD:3207633 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11986748 ZNF878 zinc finger protein 878 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:3207633 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11986748 ZNF878 zinc finger protein 878 gene DOID:0111254 glutaric acidemia I ISO RGD:3207633 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11986748 ZNF878 zinc finger protein 878 gene DOID:3413 alpha-mannosidosis ISO RGD:3207633 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11986748 ZNF878 zinc finger protein 878 gene DOID:630 genetic disease ISO RGD:3207633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11986760 NR5A2 nuclear receptor subfamily 5 group A member 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:68499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29515023 11986760 NR5A2 nuclear receptor subfamily 5 group A member 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:68499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 11986760 NR5A2 nuclear receptor subfamily 5 group A member 2 gene DOID:10603 glucose intolerance ISO RGD:68499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29515023 11986760 NR5A2 nuclear receptor subfamily 5 group A member 2 gene DOID:1540 parathyroid carcinoma ISO RGD:68499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11986760 NR5A2 nuclear receptor subfamily 5 group A member 2 gene DOID:1793 pancreatic cancer ISO RGD:68499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20101243|PMID:26098869 11986760 NR5A2 nuclear receptor subfamily 5 group A member 2 gene DOID:219 colon cancer ISO RGD:68499 D RGD:9068941 20220901 RGD RNA:increased expression:colon (human) PMID:28710032|REF_RGD_ID:153344627 11986760 NR5A2 nuclear receptor subfamily 5 group A member 2 gene DOID:2237 hepatitis treatment ISO RGD:68500 D RGD:9068941 20200609 RGD PMID:28406481|REF_RGD_ID:14401591 11986760 NR5A2 nuclear receptor subfamily 5 group A member 2 gene DOID:2843 long QT syndrome ISO RGD:68499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11986760 NR5A2 nuclear receptor subfamily 5 group A member 2 gene DOID:3781 anovulation ISO RGD:68499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18628394 11986760 NR5A2 nuclear receptor subfamily 5 group A member 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:68499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 11986760 NR5A2 nuclear receptor subfamily 5 group A member 2 gene DOID:630 genetic disease ISO RGD:68499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11986760 NR5A2 nuclear receptor subfamily 5 group A member 2 gene DOID:9003370 Dyslipidemias ISO RGD:68499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29515023 11986760 NR5A2 nuclear receptor subfamily 5 group A member 2 gene DOID:9005369 Hepatomegaly ISO RGD:68499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29515023 11986760 NR5A2 nuclear receptor subfamily 5 group A member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:68499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29515023 11986760 NR5A2 nuclear receptor subfamily 5 group A member 2 gene DOID:9007456 Female Infertility ISO RGD:68499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17409375 11986760 NR5A2 nuclear receptor subfamily 5 group A member 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:68499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11986783 MMUT methylmalonyl-CoA mutase gene DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ISO RGD:1344450 D RGD:7240710 20180130 OMIM 11986783 MMUT methylmalonyl-CoA mutase gene DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ISO RGD:1344450 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, mut(-) TYPE | ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, mut(0) TYPE | ClinVar Annotator: match by term: Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency | ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency PMID:10923046|PMID:11350191|PMID:11528502|PMID:12402345|PMID:1346616|PMID:1351030|PMID:15643616|PMID:15781192|PMID:15781199|PMID:16199547|PMID:16281286|PMID:16435223|PMID:16451139|PMID:16490061|PMID:1670635|PMID:17075691|PMID:17113806|PMID:17410422|PMID:17432548|PMID:17445044|PMID:17470278|PMID:17576681|PMID:17823972|PMID:17948227|PMID:17957493|PMID:17966092|PMID:19088183|PMID:19375370|PMID:1970180|PMID:1977311|PMID:19955418|PMID:20301409|PMID:20549364|PMID:20603089|PMID:21048060|PMID:21114891|PMID:21671183|PMID:22614770|PMID:22695176|PMID:22727635|PMID:23024777|PMID:23045948|PMID:23430940|PMID:23479330|PMID:23729607|PMID:24033266|PMID:24059531|PMID:24330302|PMID:24464670|PMID:2453061|PMID:24865477|PMID:25087612|PMID:25125334|PMID:25299208|PMID:25525159|PMID:25689098|PMID:25736335|PMID:25741868|PMID:25750861|PMID:25771389|PMID:25959030|PMID:26174677|PMID:26270765|PMID:26318470|PMID:26420839|PMID:26454439|PMID:26483233|PMID:2661559|PMID:26615597|PMID:26790480|PMID:27060300|PMID:27167370|PMID:27233228|PMID:27489777|PMID:27578510|PMID:27591164|PMID:27751223|PMID:27884173|PMID:28101778|PMID:28468868|PMID:28492532|PMID:28811685|PMID:2881300|PMID:29158924|PMID:29896740|PMID:30022420|PMID:30041674|PMID:30209273|PMID:30577886|PMID:30712249|PMID:30728829|PMID:31466887|PMID:31525265|PMID:31622506|PMID:31757659|PMID:31813137|PMID:32451238|PMID:32754920|PMID:7602808|PMID:7909321|PMID:7912889|PMID:7951229|PMID:8880917|PMID:8990001|PMID:9285782|PMID:9536098|PMID:9554742|PMID:9929975 11986783 MMUT methylmalonyl-CoA mutase gene DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency treatment ISO RGD:1558195 D RGD:9068941 20200609 RGD PMID:19861951|REF_RGD_ID:13208535 11986783 MMUT methylmalonyl-CoA mutase gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1344450 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY PMID:15643616|PMID:16281286|PMID:16490061|PMID:17075691|PMID:17113806|PMID:17445044|PMID:17957493|PMID:20549364|PMID:22727635|PMID:24059531|PMID:25741868|PMID:26454439|PMID:27233228|PMID:27489777|PMID:28492532 11986783 MMUT methylmalonyl-CoA mutase gene DOID:0080483 peroxisome biogenesis disorder 8A ISO RGD:1344450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8A (Zellweger) PMID:25741868|PMID:28492532 11986783 MMUT methylmalonyl-CoA mutase gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1344450 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:16281286|PMID:16490061|PMID:17075691|PMID:17445044|PMID:22727635|PMID:25741868|PMID:26454439|PMID:27233228|PMID:27489777|PMID:28492532 11986783 MMUT methylmalonyl-CoA mutase gene DOID:14749 methylmalonic acidemia ISO RGD:1344450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:10923046|PMID:11350191|PMID:11528502|PMID:12402345|PMID:1346616|PMID:1351030|PMID:15643616|PMID:15781192|PMID:15781199|PMID:16199547|PMID:16281286|PMID:16435223|PMID:16490061|PMID:1670635|PMID:17075691|PMID:17113806|PMID:17410422|PMID:17445044|PMID:17470278|PMID:17957493|PMID:19088183|PMID:19375370|PMID:1970180|PMID:1977311|PMID:19955418|PMID:20549364|PMID:20603089|PMID:21048060|PMID:21114891|PMID:22614770|PMID:22727635|PMID:23024777|PMID:23045948|PMID:23430940|PMID:23479330|PMID:23729607|PMID:24033266|PMID:24059531|PMID:24464670|PMID:2453061|PMID:24865477|PMID:25087612|PMID:25125334|PMID:25299208|PMID:25525159|PMID:25689098|PMID:25741868|PMID:25750861|PMID:25771389|PMID:25959030|PMID:26270765|PMID:26420839|PMID:26454439|PMID:2661559|PMID:26615597|PMID:26790480|PMID:27167370|PMID:27233228|PMID:27489777|PMID:27578510|PMID:27591164|PMID:27751223|PMID:28468868|PMID:28492532|PMID:28811685|PMID:2881300|PMID:30041674|PMID:30080956|PMID:30209273|PMID:31525265|PMID:31622506|PMID:31757659|PMID:32451238|PMID:33413471|PMID:7909321|PMID:7912889|PMID:8880917|PMID:8990001|PMID:9285782|PMID:9929975 11986783 MMUT methylmalonyl-CoA mutase gene DOID:630 genetic disease ISO RGD:1344450 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11986783 MMUT methylmalonyl-CoA mutase gene DOID:655 inherited metabolic disorder ISO RGD:1344450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19427250 11986783 MMUT methylmalonyl-CoA mutase gene DOID:936 brain disease ISO RGD:1344450 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 11986783 MMUT methylmalonyl-CoA mutase gene DOID:9970 obesity ISO RGD:1344450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 11986810 SLC7A10 solute carrier family 7 member 10 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:731925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11986810 SLC7A10 solute carrier family 7 member 10 gene DOID:630 genetic disease ISO RGD:731925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11986810 SLC7A10 solute carrier family 7 member 10 gene DOID:9119 acute myeloid leukemia ISO RGD:731925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:28492532 11986828 ARL17B ADP ribosylation factor like GTPase 17B gene DOID:0050880 Koolen de Vries syndrome ISO RGD:1605146 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Koolen-de Vries syndrome PMID:25741868 11986828 ARL17B ADP ribosylation factor like GTPase 17B gene DOID:630 genetic disease ISO RGD:1605146 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11986834 TAC3 tachykinin precursor 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1353248 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11986834 TAC3 tachykinin precursor 3 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1353248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25636053 11986834 TAC3 tachykinin precursor 3 gene DOID:0090089 hypogonadotropic hypogonadism 10 with or without anosmia ISO RGD:1353248 D RGD:7240710 20180130 OMIM 11986834 TAC3 tachykinin precursor 3 gene DOID:0090089 hypogonadotropic hypogonadism 10 with or without anosmia ISO RGD:1353248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 10 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 10 without anosmia PMID:19079066|PMID:20332248 11986834 TAC3 tachykinin precursor 3 gene DOID:10763 hypertension ISO RGD:3809 D RGD:9068941 20200609 RGD protein:increased expression:supraoptic nucleus, medulla oblongata PMID:2478257|REF_RGD_ID:2305983 11986834 TAC3 tachykinin precursor 3 gene DOID:1924 hypogonadism ISO RGD:1353248 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19079066 11986834 TAC3 tachykinin precursor 3 gene DOID:5223 infertility ISO RGD:1353248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infertility PMID:25636053|PMID:28492532|PMID:29419413 11986834 TAC3 tachykinin precursor 3 gene DOID:630 genetic disease ISO RGD:1353248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11986834 TAC3 tachykinin precursor 3 gene DOID:9001239 Delayed Puberty ISO RGD:1353248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Delayed puberty PMID:25636053|PMID:28492532|PMID:29419413 11986849 LOC100992685 meiotic nuclear division protein 1 homolog gene DOID:0110161 Charcot-Marie-Tooth disease type 2R ISO RGD:1322189 D RGD:7240710 20180509 OMIM 11986849 LOC100992685 meiotic nuclear division protein 1 homolog gene DOID:0110161 Charcot-Marie-Tooth disease type 2R ISO RGD:1322189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2R PMID:16199547|PMID:17576681|PMID:23562820|PMID:23806086|PMID:24088041|PMID:25741868|PMID:25893792|PMID:26257172|PMID:28492532|PMID:9536098 11986849 LOC100992685 meiotic nuclear division protein 1 homolog gene DOID:630 genetic disease ISO RGD:1322189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11986849 LOC100992685 meiotic nuclear division protein 1 homolog gene DOID:7319 axonal neuropathy ISO RGD:1322189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral axonal neuropathy 11986849 LOC100992685 meiotic nuclear division protein 1 homolog gene DOID:8398 osteoarthritis ISO RGD:1322189 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 11986859 ADRA2C adrenoceptor alpha 2C gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:737142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 11986859 ADRA2C adrenoceptor alpha 2C gene DOID:6000 congestive heart failure ISO RGD:737142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congestive heart failure and beta-blocker response, modifier of PMID:12374873|PMID:17496726 11986859 ADRA2C adrenoceptor alpha 2C gene DOID:630 genetic disease ISO RGD:737142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11986859 ADRA2C adrenoceptor alpha 2C gene DOID:9000784 Fibrosis ISO RGD:737142 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20083574 11986859 ADRA2C adrenoceptor alpha 2C gene DOID:9002211 Hyperalgesia ISO RGD:2058 D RGD:9068941 20200609 RGD PMID:20007733|REF_RGD_ID:6893568 11986859 ADRA2C adrenoceptor alpha 2C gene DOID:9003936 Cardiomegaly ISO RGD:737142 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20083574 11986859 ADRA2C adrenoceptor alpha 2C gene DOID:9005968 Neuralgia ISO RGD:2058 D RGD:9068941 20200609 RGD PMID:12946573|REF_RGD_ID:6893571 11986865 HPDL 4-hydroxyphenylpyruvate dioxygenase like gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11986865 HPDL 4-hydroxyphenylpyruvate dioxygenase like gene DOID:0050952 spastic ataxia ISO RGD:1606204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:32707086|PMID:33970200 11986865 HPDL 4-hydroxyphenylpyruvate dioxygenase like gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1606204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:16557584|PMID:17949294|PMID:19806110|PMID:25820570|PMID:28492532 11986865 HPDL 4-hydroxyphenylpyruvate dioxygenase like gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11986865 HPDL 4-hydroxyphenylpyruvate dioxygenase like gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11986865 HPDL 4-hydroxyphenylpyruvate dioxygenase like gene DOID:0112346 hereditary spastic paraplegia 83 ISO RGD:1606204 D RGD:7240710 20201007 OMIM 11986865 HPDL 4-hydroxyphenylpyruvate dioxygenase like gene DOID:0112346 hereditary spastic paraplegia 83 ISO RGD:1606204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 83, autosomal recessive PMID:25741868|PMID:32707086|PMID:33970200 11986865 HPDL 4-hydroxyphenylpyruvate dioxygenase like gene DOID:1289 neurodegenerative disease ISO RGD:1332429 D RGD:9068941 20230406 MouseDO 11986865 HPDL 4-hydroxyphenylpyruvate dioxygenase like gene DOID:607 paraplegia ISO RGD:1606204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:32707086|PMID:33188300|PMID:33970200 11986865 HPDL 4-hydroxyphenylpyruvate dioxygenase like gene DOID:630 genetic disease ISO RGD:1606204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32707086|PMID:33188300|PMID:33970200 11986865 HPDL 4-hydroxyphenylpyruvate dioxygenase like gene DOID:9004548 Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities ISO RGD:1606204 D RGD:7240710 20201216 OMIM 11986865 HPDL 4-hydroxyphenylpyruvate dioxygenase like gene DOID:9004548 Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities ISO RGD:1606204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities PMID:25741868|PMID:32707086|PMID:33188300|PMID:33634263|PMID:33970200|PMID:9084927|PMID:9973289 11986870 EFCAB5 EF-hand calcium binding domain 5 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1606096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 11986870 EFCAB5 EF-hand calcium binding domain 5 gene DOID:630 genetic disease ISO RGD:1606096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11986906 TOMM7 translocase of outer mitochondrial membrane 7 gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:1317904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 11986906 TOMM7 translocase of outer mitochondrial membrane 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11986906 TOMM7 translocase of outer mitochondrial membrane 7 gene DOID:630 genetic disease ISO RGD:1317904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11986906 TOMM7 translocase of outer mitochondrial membrane 7 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317904 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 11986946 RPL34 ribosomal protein L34 gene DOID:630 genetic disease ISO RGD:1319729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11986964 F9 coagulation factor IX gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11986964 F9 coagulation factor IX gene DOID:0060903 thrombosis ISO RGD:735620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1279834 11986964 F9 coagulation factor IX gene DOID:0080839 X-linked warfarin sensitivity ISO RGD:735620 D RGD:7240710 20201118 OMIM 11986964 F9 coagulation factor IX gene DOID:0080839 X-linked warfarin sensitivity ISO RGD:735620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COUMARIN SENSITIVITY, X-LINKED | ClinVar Annotator: match by term: Warfarin sensitivity, X-linked PMID:10094553|PMID:10698280|PMID:19699296|PMID:2066105|PMID:22639855|PMID:2370049|PMID:24375831|PMID:2472424|PMID:25741868|PMID:2762170|PMID:2773937|PMID:28492532|PMID:2929599|PMID:29450643|PMID:29923114|PMID:30576981|PMID:31064749|PMID:3262389|PMID:7937052|PMID:8320491|PMID:8833911|PMID:9233593|PMID:9525872 11986964 F9 coagulation factor IX gene DOID:0111899 X-linked thrombophilia due to factor IX defect ISO RGD:735620 D RGD:7240710 20180130 OMIM 11986964 F9 coagulation factor IX gene DOID:0111899 X-linked thrombophilia due to factor IX defect ISO RGD:735620 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Thrombophilia, X-linked, due to factor IX defect PMID:10094553|PMID:10373456|PMID:10595634|PMID:10698280|PMID:10739381|PMID:11122099|PMID:11328285|PMID:12588353|PMID:1346975|PMID:14675097|PMID:15178576|PMID:15569175|PMID:15921378|PMID:1615486|PMID:16643212|PMID:1680287|PMID:17014892|PMID:1864609|PMID:1873221|PMID:19286883|PMID:1968152|PMID:19699296|PMID:19846852|PMID:2066105|PMID:2087690|PMID:2198809|PMID:22103590|PMID:2220823|PMID:22544209|PMID:22639855|PMID:23093250|PMID:23617593|PMID:2370049|PMID:24375831|PMID:2450455|PMID:2472424|PMID:25326637|PMID:2564457|PMID:25741868|PMID:25851415|PMID:2752109|PMID:27529981|PMID:2762170|PMID:2773937|PMID:27865967|PMID:28193338|PMID:28492532|PMID:2929599|PMID:29517974|PMID:29656491|PMID:29993188|PMID:31064749|PMID:31272859|PMID:3181127|PMID:32581362|PMID:3262389|PMID:34272389|PMID:34355501|PMID:34590426|PMID:35770352|PMID:3857619|PMID:5298508|PMID:6603618|PMID:7482402|PMID:7873393|PMID:7937052|PMID:8055323|PMID:8091381|PMID:8257988|PMID:8314564|PMID:8320491|PMID:8470048|PMID:8680410|PMID:8772212|PMID:9222764|PMID:9450791|PMID:9525872 11986964 F9 coagulation factor IX gene DOID:12134 factor VIII deficiency ISO RGD:735620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: Factor VIII deficiency, congenital PMID:10094553|PMID:10373456|PMID:10595634|PMID:10698280|PMID:10739381|PMID:11122099|PMID:11328285|PMID:12588353|PMID:1346975|PMID:14675097|PMID:15178576|PMID:15569175|PMID:15921378|PMID:1615486|PMID:16643212|PMID:1680287|PMID:17014892|PMID:1864609|PMID:1873221|PMID:1968152|PMID:19699296|PMID:2066105|PMID:2087690|PMID:2198809|PMID:22103590|PMID:2220823|PMID:22544209|PMID:22639855|PMID:23093250|PMID:24375831|PMID:2472424|PMID:25326637|PMID:25741868|PMID:2752109|PMID:27529981|PMID:2773937|PMID:27865967|PMID:28193338|PMID:28492532|PMID:2929599|PMID:29656491|PMID:29993188|PMID:31064749|PMID:3181127|PMID:32581362|PMID:34272389|PMID:34355501|PMID:34590426|PMID:5298508|PMID:6603618|PMID:7482402|PMID:7873393|PMID:7937052|PMID:8055323|PMID:8091381|PMID:8257988|PMID:8314564|PMID:8320491|PMID:8470048|PMID:8680410|PMID:8772212|PMID:9222764|PMID:9450791 11986964 F9 coagulation factor IX gene DOID:12259 hemophilia B ISO RGD:735620 D RGD:7240710 20180130 OMIM 11986964 F9 coagulation factor IX gene DOID:12259 hemophilia B ISO RGD:735620 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Factor IX deficiency | ClinVar Annotator: match by term: Hemophilia B Brandenburg | ClinVar Annotator: match by term: Hemophilia B leyden | ClinVar Annotator: match by term: Hemophilia B, Factor IX Deficiency | ClinVar Annotator: match by term: Hemophilia b(m) | ClinVar Annotator: match by term: Hereditary factor IX deficiency disease PMID:10090477|PMID:10094553|PMID:10373456|PMID:10595634|PMID:10647899|PMID:10698280|PMID:10739381|PMID:10874302|PMID:10942410|PMID:10980527|PMID:11013449|PMID:11122099|PMID:11328285|PMID:12588353|PMID:12709378|PMID:12780784|PMID:12997790|PMID:1346077|PMID:1346975|PMID:1357229|PMID:14675097|PMID:15086324|PMID:15178576|PMID:15569175|PMID:1579901|PMID:15921378|PMID:1598234|PMID:1615485|PMID:1615486|PMID:16199547|PMID:16270648|PMID:1631121|PMID:1631558|PMID:16643212|PMID:1680287|PMID:1680373|PMID:17014892|PMID:1733855|PMID:17397055|PMID:17576681|PMID:1796396|PMID:18479429|PMID:18540896|PMID:18624698|PMID:1864609|PMID:1873221|PMID:1897528|PMID:1902289|PMID:19236374|PMID:19286883|PMID:19522246|PMID:1958666|PMID:1968152|PMID:19686262|PMID:1969838|PMID:19699296|PMID:1972560|PMID:19763152|PMID:19815722|PMID:19846852|PMID:1986380|PMID:1998585|PMID:2004020|PMID:20059559|PMID:20301668|PMID:20305539|PMID:20307669|PMID:2066105|PMID:20695909|PMID:2087690|PMID:2093364|PMID:2111833|PMID:2198809|PMID:22103590|PMID:2220823|PMID:22406018|PMID:22544209|PMID:22639855|PMID:2270538|PMID:22707612|PMID:23093250|PMID:2320433|PMID:2339358|PMID:2342576|PMID:23472758|PMID:2352926|PMID:2355000|PMID:23617593|PMID:2370049|PMID:2372509|PMID:2388855|PMID:23913812|PMID:23998594|PMID:24375831|PMID:2438804|PMID:2450455|PMID:24533955|PMID:2472424|PMID:24816826|PMID:2494175|PMID:25251685|PMID:25326637|PMID:25470321|PMID:2563663|PMID:2564457|PMID:25741868|PMID:25851415|PMID:2592373|PMID:25929987|PMID:26612714|PMID:27109384|PMID:2714791|PMID:27213901|PMID:27227676|PMID:2738071|PMID:2741941|PMID:2743975|PMID:27501440|PMID:2752109|PMID:27529981|PMID:2753873|PMID:2757966|PMID:2762170|PMID:2773937|PMID:2775660|PMID:27824213|PMID:27865967|PMID:28168417|PMID:28193338|PMID:2821070|PMID:2831715|PMID:2841226|PMID:2846283|PMID:2848757|PMID:28492532|PMID:2873459|PMID:28752769|PMID:2875754|PMID:28834196|PMID:2886685|PMID:2917196|PMID:2929599|PMID:29296726|PMID:29450643|PMID:29517974|PMID:29656491|PMID:29923114|PMID:2992643|PMID:29993188|PMID:3009023|PMID:3029178|PMID:30576981|PMID:31026269|PMID:31064749|PMID:31272859|PMID:3181127|PMID:31840356|PMID:32155688|PMID:3243764|PMID:32581362|PMID:32596782|PMID:3262389|PMID:32875744|PMID:32935414|PMID:3392024|PMID:3401602|PMID:3411192|PMID:3416069|PMID:34272389|PMID:34355501|PMID:34590426|PMID:3461460|PMID:34626083|PMID:35770352|PMID:3790720|PMID:3857619|PMID:3965513|PMID:4033760|PMID:4045960|PMID:4163943|PMID:5298508|PMID:5450691|PMID:6603618|PMID:6843667|PMID:7062952|PMID:7101232|PMID:734633|PMID:7482402|PMID:7677806|PMID:7734378|PMID:7873393|PMID:7937052|PMID:7989034|PMID:8055323|PMID:8091381|PMID:8178822|PMID:8199596|PMID:8217825|PMID:8251390|PMID:8257988|PMID:8304338|PMID:8314564|PMID:8318985|PMID:8320491|PMID:8352232|PMID:8365725|PMID:8392713|PMID:8412791|PMID:8434583|PMID:8470048|PMID:8478007|PMID:8499919|PMID:8499951|PMID:8594556|PMID:8680410|PMID:8772212|PMID:8825645|PMID:8833911|PMID:884315|PMID:8990015|PMID:9222764|PMID:9450791|PMID:9525872|PMID:9536098|PMID:9590153|PMID:9600455 11986964 F9 coagulation factor IX gene DOID:12259 hemophilia B treatment ISO RGD:735620 D RGD:9068941 20200609 RGD PMID:20351275|PMID:21122306|REF_RGD_ID:10450761|REF_RGD_ID:10450764 11986964 F9 coagulation factor IX gene DOID:1247 blood coagulation disease ISO RGD:735620 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormality of coagulation PMID:2066105|PMID:23093250|PMID:25326637|PMID:25741868|PMID:27529981|PMID:27865967|PMID:28492532|PMID:29656491|PMID:31064749|PMID:34355501 11986964 F9 coagulation factor IX gene DOID:12849 autistic disorder ISO RGD:735620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11986964 F9 coagulation factor IX gene DOID:1790 malignant mesothelioma ISO RGD:735620 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 11986964 F9 coagulation factor IX gene DOID:630 genetic disease ISO RGD:735620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19846852|PMID:7937052 11986964 F9 coagulation factor IX gene DOID:9004484 Sepsis treatment ISO RGD:2589 D RGD:9068941 20200609 RGD PMID:12000738|REF_RGD_ID:1598921 11986964 F9 coagulation factor IX gene DOID:9352 type 2 diabetes mellitus ISO RGD:735620 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:7974333|REF_RGD_ID:2312416 11986976 EP400 E1A binding protein p400 gene DOID:630 genetic disease ISO RGD:1312347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11986976 EP400 E1A binding protein p400 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312347 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11986976 EP400 E1A binding protein p400 gene DOID:9256 colorectal cancer ISO RGD:1312347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 11987047 CRK CRK proto-oncogene, adaptor protein gene DOID:0060432 chromosome 17p13.3 duplication syndrome ISO RGD:736380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome PMID:21681106 11987047 CRK CRK proto-oncogene, adaptor protein gene DOID:630 genetic disease ISO RGD:736380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11987047 CRK CRK proto-oncogene, adaptor protein gene DOID:90 degenerative disc disease treatment ISO RGD:2405 D RGD:9068941 20200609 RGD PMID:23055810|REF_RGD_ID:11568070 11987047 CRK CRK proto-oncogene, adaptor protein gene DOID:9007102 Myocardial Ischemia ISO RGD:736380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11987063 SP110 SP110 nuclear body protein gene DOID:0060476 Perlman syndrome ISO RGD:1320919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11987063 SP110 SP110 nuclear body protein gene DOID:0110991 Joubert syndrome 22 ISO RGD:1320919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11987063 SP110 SP110 nuclear body protein gene DOID:0112254 hepatic venoocclusive disease with immunodeficiency ISO RGD:1320919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatic veno-occlusive disease-immunodeficiency syndrome PMID:16648851|PMID:16803959|PMID:16816019|PMID:17149599|PMID:17510920|PMID:17576681|PMID:19780822|PMID:20301448|PMID:21536091|PMID:22621957|PMID:23448538|PMID:24033266|PMID:25741868|PMID:27577878|PMID:28492532|PMID:32888943|PMID:9536098 11987063 SP110 SP110 nuclear body protein gene DOID:0112254 hepatic venoocclusive disease with immunodeficiency susceptibility ISO RGD:1320919 D RGD:7240710 20230510 OMIM 11987063 SP110 SP110 nuclear body protein gene DOID:399 tuberculosis ISO RGD:1320919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to PMID:16803959|PMID:16816019|PMID:17149599|PMID:24033266|PMID:25741868|PMID:28492532 11987063 SP110 SP110 nuclear body protein gene DOID:399 tuberculosis susceptibility ISO RGD:1320919 D RGD:7240710 20230510 OMIM 11987063 SP110 SP110 nuclear body protein gene DOID:630 genetic disease ISO RGD:1320919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11987095 TUBB tubulin beta class I gene DOID:0050453 lissencephaly ISO RGD:1606428 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:25741868|PMID:29671837|PMID:29706646 11987095 TUBB tubulin beta class I gene DOID:0090136 complex cortical dysplasia with other brain malformations 6 ISO RGD:1606428 D RGD:7240710 20180130 OMIM 11987095 TUBB tubulin beta class I gene DOID:0090136 complex cortical dysplasia with other brain malformations 6 ISO RGD:1606428 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 6 PMID:23246003|PMID:24833723|PMID:25741868|PMID:26637975|PMID:29671837|PMID:29706646|PMID:32085672|PMID:34211110 11987095 TUBB tubulin beta class I gene DOID:0112241 multiple benign circumferential skin creases on limbs ISO RGD:1606428 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CIRCUMFERENTIAL SKIN CREASES, KUNZE TYPE | ClinVar Annotator: match by term: Kunze Riehm syndrome PMID:12239728|PMID:23246003|PMID:23324645|PMID:25741868|PMID:26637975|PMID:29671837|PMID:29706646 11987095 TUBB tubulin beta class I gene DOID:0112242 congenital symmetric circumferential skin creases 1 ISO RGD:1606428 D RGD:7240710 20180130 OMIM 11987095 TUBB tubulin beta class I gene DOID:0112242 congenital symmetric circumferential skin creases 1 ISO RGD:1606428 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Symmetric circumferential skin creases, congenital, 1 PMID:12239728|PMID:23246003|PMID:23324645|PMID:25741868|PMID:26637975|PMID:29671837|PMID:29706646 11987095 TUBB tubulin beta class I gene DOID:10907 microcephaly ISO RGD:1624063 D RGD:9068941 20220825 MouseDO OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 11987095 TUBB tubulin beta class I gene DOID:10908 hydrocephalus ISO RGD:1606428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868 11987095 TUBB tubulin beta class I gene DOID:11372 megacolon ISO RGD:1606428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11987095 TUBB tubulin beta class I gene DOID:12930 dilated cardiomyopathy ISO RGD:1624063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16155095 11987095 TUBB tubulin beta class I gene DOID:6000 congestive heart failure ISO RGD:1624063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16155095 11987095 TUBB tubulin beta class I gene DOID:630 genetic disease ISO RGD:1606428 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23246003|PMID:24833723|PMID:25741868 11987095 TUBB tubulin beta class I gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1624063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 11987095 TUBB tubulin beta class I gene DOID:9009131 Ventriculomegaly ISO RGD:1606428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868 11987108 ITGAE integrin subunit alpha E gene DOID:3613 Canavan disease ISO RGD:1346113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:28492532|PMID:7668285 11987108 ITGAE integrin subunit alpha E gene DOID:630 genetic disease ISO RGD:1346113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11987140 FKBP3 FKBP prolyl isomerase 3 gene DOID:13636 Fanconi anemia ISO RGD:1312751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532|PMID:29895858|PMID:30075111 11987140 FKBP3 FKBP prolyl isomerase 3 gene DOID:630 genetic disease ISO RGD:1312751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11987140 FKBP3 FKBP prolyl isomerase 3 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1312751 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11987151 VPS13B vacuolar protein sorting 13 homolog B gene DOID:0080625 severe congenital neutropenia 1 ISO RGD:1317598 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant PMID:16648375|PMID:25741868|PMID:28492532 11987151 VPS13B vacuolar protein sorting 13 homolog B gene DOID:0111590 Cohen syndrome ISO RGD:1317598 D RGD:7240710 20180130 OMIM 11987151 VPS13B vacuolar protein sorting 13 homolog B gene DOID:0111590 Cohen syndrome ISO RGD:1317598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:11169562|PMID:12730828|PMID:15141358|PMID:15154116|PMID:15173253|PMID:15211651|PMID:15498460|PMID:15691367|PMID:15918062|PMID:16199547|PMID:16648375|PMID:16917849|PMID:17383910|PMID:17576681|PMID:17786118|PMID:17990063|PMID:18414213|PMID:18655112|PMID:19006247|PMID:19190672|PMID:19533689|PMID:19763152|PMID:20307669|PMID:20461111|PMID:20656880|PMID:20683995|PMID:20921020|PMID:21330571|PMID:21659346|PMID:21865173|PMID:22382802|PMID:22406018|PMID:22527104|PMID:22700954|PMID:22855652|PMID:23033978|PMID:23188044|PMID:23352163|PMID:23757202|PMID:24033266|PMID:24311531|PMID:24334746|PMID:24334764|PMID:25060287|PMID:25326635|PMID:25356970|PMID:25472526|PMID:25502226|PMID:25525159|PMID:25533962|PMID:25640679|PMID:25741868|PMID:26104215|PMID:26133662|PMID:26395554|PMID:26443248|PMID:26467025|PMID:26539891|PMID:26938784|PMID:27175599|PMID:27353947|PMID:27380831|PMID:27533158|PMID:27829003|PMID:28041643|PMID:28057753|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28631888|PMID:28832562|PMID:29149870|PMID:29431110|PMID:29453417|PMID:29634382|PMID:29706646|PMID:29758347|PMID:30138938|PMID:30290665|PMID:30792901|PMID:30843084|PMID:31580008|PMID:31736247|PMID:31943017|PMID:31965297|PMID:32170714|PMID:32384097|PMID:32505691|PMID:32581362|PMID:32860008|PMID:32919079|PMID:32959227|PMID:33023636|PMID:33025479|PMID:33217554|PMID:34353225|PMID:9536098 11987151 VPS13B vacuolar protein sorting 13 homolog B gene DOID:10584 retinitis pigmentosa ISO RGD:1317598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15141358|PMID:16648375|PMID:20461111|PMID:25741868|PMID:26467025|PMID:28492532 11987151 VPS13B vacuolar protein sorting 13 homolog B gene DOID:1059 intellectual disability ISO RGD:1317598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17990063|PMID:25741868|PMID:26467025|PMID:28492532 11987151 VPS13B vacuolar protein sorting 13 homolog B gene DOID:10907 microcephaly ISO RGD:1317598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11987151 VPS13B vacuolar protein sorting 13 homolog B gene DOID:11830 myopia ISO RGD:1317598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia PMID:15141358|PMID:16199547|PMID:16648375|PMID:20461111|PMID:24334764|PMID:28492532|PMID:32581362 11987151 VPS13B vacuolar protein sorting 13 homolog B gene DOID:5419 schizophrenia ISO RGD:1317598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11987151 VPS13B vacuolar protein sorting 13 homolog B gene DOID:630 genetic disease ISO RGD:1317598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15141358|PMID:15154116|PMID:15211651|PMID:15918062|PMID:16648375|PMID:17383910|PMID:17576681|PMID:17990063|PMID:18414213|PMID:19006247|PMID:20461111|PMID:20683995|PMID:20921020|PMID:21659346|PMID:22382802|PMID:22527104|PMID:23033978|PMID:23352163|PMID:23757202|PMID:24033266|PMID:25326635|PMID:25356970|PMID:25472526|PMID:25502226|PMID:25525159|PMID:25741868|PMID:26133662|PMID:26443248|PMID:26467025|PMID:27175599|PMID:27353947|PMID:27380831|PMID:27829003|PMID:28057753|PMID:28492532|PMID:29758347|PMID:30792901|PMID:30843084|PMID:31736247|PMID:31943017|PMID:32384097|PMID:9536098 11987151 VPS13B vacuolar protein sorting 13 homolog B gene DOID:83 cataract ISO RGD:1322508 D RGD:9068941 20220825 MouseDO OMIM:601371 11987151 VPS13B vacuolar protein sorting 13 homolog B gene DOID:8501 fundus dystrophy ISO RGD:1317598 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 11987151 VPS13B vacuolar protein sorting 13 homolog B gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1317598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868|PMID:28492532 11987151 VPS13B vacuolar protein sorting 13 homolog B gene DOID:9006534 Nervous System Malformations ISO RGD:1317598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:15141358|PMID:16648375|PMID:20461111|PMID:20656880|PMID:25741868|PMID:28492532 11987151 VPS13B vacuolar protein sorting 13 homolog B gene DOID:9007653 Multiple Abnormalities susceptibility ISO RGD:1317598 D RGD:9068941 20200609 RGD Cohen syndrome, OMIM:216550:DNA:deletion mutation, nonsense mutation, missense mutation PMID:12730828|REF_RGD_ID:1357205 11987151 VPS13B vacuolar protein sorting 13 homolog B gene DOID:9007661 Dwarfism ISO RGD:1317598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:15141358|PMID:15154116|PMID:16648375|PMID:17990063|PMID:20461111|PMID:25525159|PMID:25741868|PMID:28492532|PMID:34353225 11987151 VPS13B vacuolar protein sorting 13 homolog B gene DOID:9008086 Developmental Disabilities ISO RGD:1317598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:15141358|PMID:15173253|PMID:16199547|PMID:16648375|PMID:20461111|PMID:24334764|PMID:25741868|PMID:28492532|PMID:32581362 11987151 VPS13B vacuolar protein sorting 13 homolog B gene DOID:9008296 Eye Abnormalities ISO RGD:1317598 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:15141358|PMID:16648375|PMID:20461111|PMID:26395554|PMID:28041643|PMID:28492532|PMID:29149870 11987231 TENT5B terminal nucleotidyltransferase 5B gene DOID:630 genetic disease ISO RGD:1344774 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11987237 DICER1 dicer 1, ribonuclease III gene DOID:0050745 diffuse large B-cell lymphoma disease_progression ISO RGD:1319699 D RGD:9068941 20210716 RGD PMID:25195038|REF_RGD_ID:149735347 11987237 DICER1 dicer 1, ribonuclease III gene DOID:0050902 medulloblastoma ISO RGD:1319699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:25741868 11987237 DICER1 dicer 1, ribonuclease III gene DOID:0080615 nephroma ISO RGD:1319699 D RGD:9068941 20210716 RGD DNA:mutations: : PMID:24481001|REF_RGD_ID:149735348 11987237 DICER1 dicer 1, ribonuclease III gene DOID:0081063 DICER1 syndrome ISO RGD:1319699 D RGD:7240710 20220406 OMIM 11987237 DICER1 dicer 1, ribonuclease III gene DOID:0081063 DICER1 syndrome ISO RGD:1319699 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:15242644|PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:17920623|PMID:17923214|PMID:18453628|PMID:18570301|PMID:19556464|PMID:21036787|PMID:21205968|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22157934|PMID:22180160|PMID:22187960|PMID:22546613|PMID:22717647|PMID:23068969|PMID:23132766|PMID:23418872|PMID:23547758|PMID:23620094|PMID:23622242|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24151152|PMID:24481001|PMID:24513630|PMID:24617712|PMID:24628552|PMID:24675358|PMID:24676357|PMID:24708902|PMID:24728327|PMID:24823459|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25176334|PMID:25190313|PMID:25231023|PMID:25348012|PMID:25356068|PMID:25451712|PMID:25526195|PMID:25670082|PMID:25670083|PMID:25741868|PMID:25803323|PMID:25836323|PMID:25998712|PMID:26033159|PMID:26033501|PMID:26241669|PMID:26289771|PMID:26408257|PMID:26428316|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26556299|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26592504|PMID:26666178|PMID:26822237|PMID:26841698|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:26983701|PMID:27036314|PMID:27050224|PMID:27126690|PMID:27459524|PMID:27494611|PMID:27664536|PMID:27697588|PMID:27784193|PMID:27819237|PMID:27896549|PMID:27930734|PMID:28007021|PMID:28012864|PMID:28097783|PMID:28177962|PMID:28202063|PMID:28222777|PMID:28323992|PMID:28459098|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28688118|PMID:28748527|PMID:28766837|PMID:28825729|PMID:28834809|PMID:28862265|PMID:28873162|PMID:28960912|PMID:29037807|PMID:29187512|PMID:29315962|PMID:29351919|PMID:29395683|PMID:29399970|PMID:29459759|PMID:29469200|PMID:29474644|PMID:29538609|PMID:29625052|PMID:29633305|PMID:29641532|PMID:29660837|PMID:29698806|PMID:29706542|PMID:29708584|PMID:29726952|PMID:29753010|PMID:29762508|PMID:29881993|PMID:29883781|PMID:29938629|PMID:29943907|PMID:29945567|PMID:30014022|PMID:30072170|PMID:30093976|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30446821|PMID:30585947|PMID:30597651|PMID:30649606|PMID:30665929|PMID:30672147|PMID:30989777|PMID:31067372|PMID:31278746|PMID:31285663|PMID:31300551|PMID:31342592|PMID:31820118|PMID:31838154|PMID:31883967|PMID:31900434|PMID:31911633|PMID:32291395|PMID:32714280|PMID:32832834|PMID:32973888|PMID:33158809|PMID:33372952|PMID:33630087|PMID:33718253|PMID:33729574|PMID:34291157|PMID:34313605|PMID:9295070|PMID:9345104|PMID:9536098 11987237 DICER1 dicer 1, ribonuclease III gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1319699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459|PMID:28492532 11987237 DICER1 dicer 1, ribonuclease III gene DOID:10534 stomach cancer disease_progression ISO RGD:1319699 D RGD:9068941 20210716 RGD PMID:18167183|REF_RGD_ID:149735323 11987237 DICER1 dicer 1, ribonuclease III gene DOID:11198 DiGeorge syndrome ISO RGD:1319700 D RGD:9068941 20220825 MouseDO OMIM:188400 11987237 DICER1 dicer 1, ribonuclease III gene DOID:12930 dilated cardiomyopathy ISO RGD:1319700 D RGD:9068941 20220825 MouseDO 11987237 DICER1 dicer 1, ribonuclease III gene DOID:1324 lung cancer exacerbates ISO RGD:1319700 D RGD:9068941 20210716 RGD PMID:19903759|REF_RGD_ID:149735199 11987237 DICER1 dicer 1, ribonuclease III gene DOID:14228 oligospermia ISO RGD:1319699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22381205 11987237 DICER1 dicer 1, ribonuclease III gene DOID:1612 breast cancer ISO RGD:1319699 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532|PMID:32714280 11987237 DICER1 dicer 1, ribonuclease III gene DOID:1664 pineoblastoma ISO RGD:1319699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pineoblastoma PMID:16199547|PMID:19556464|PMID:21266384|PMID:21882293|PMID:24909177|PMID:25022261|PMID:25118636|PMID:25741868|PMID:26925222|PMID:27459524|PMID:28492532|PMID:28960912|PMID:30097050 11987237 DICER1 dicer 1, ribonuclease III gene DOID:2154 nephroblastoma ISO RGD:1319699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 11987237 DICER1 dicer 1, ribonuclease III gene DOID:2394 ovarian cancer ISO RGD:1319699 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 11987237 DICER1 dicer 1, ribonuclease III gene DOID:289 endometriosis ISO RGD:1319699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 11987237 DICER1 dicer 1, ribonuclease III gene DOID:3247 rhabdomyosarcoma ISO RGD:1319699 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:19556464|PMID:21266384|PMID:24839956|PMID:25741868|PMID:26925222|PMID:28492532|PMID:28624956|PMID:28862265|PMID:30266945|PMID:33372952 11987237 DICER1 dicer 1, ribonuclease III gene DOID:3525 middle cerebral artery infarction ISO RGD:1309381 D RGD:9068941 20210723 RGD mRNA:decreased expression:brain: PMID:26294080|REF_RGD_ID:11553310 11987237 DICER1 dicer 1, ribonuclease III gene DOID:4769 pleuropulmonary blastoma ISO RGD:1319699 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome | ClinVar Annotator: match by term: Pleuropulmonary blastoma PMID:19556464|PMID:21036787|PMID:21266384|PMID:21501861|PMID:23728841|PMID:24481001|PMID:24676357|PMID:24839956|PMID:24909177|PMID:25451712|PMID:25741868|PMID:26467025|PMID:26925222|PMID:28323992|PMID:28492532|PMID:28654427|PMID:28825729|PMID:28862265|PMID:30178239|PMID:30266945|PMID:30339877|PMID:32714280|PMID:33372952 11987237 DICER1 dicer 1, ribonuclease III gene DOID:4791 supratentorial primitive neuroectodermal tumor ISO RGD:1319699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Supratentorial primitive neuroectodermal tumor PMID:21882293|PMID:24481001|PMID:24513630|PMID:24617712|PMID:24675358|PMID:24909177|PMID:25190313|PMID:25356068|PMID:25741868|PMID:25836323|PMID:26033159|PMID:26475046|PMID:26555935|PMID:26556299|PMID:26841698|PMID:26925222|PMID:26928971|PMID:27126690|PMID:27459524|PMID:28177962|PMID:28222777|PMID:28492532|PMID:28862265|PMID:29315962|PMID:29881993|PMID:30014022|PMID:30266945|PMID:30649606 11987237 DICER1 dicer 1, ribonuclease III gene DOID:5223 infertility ISO RGD:1319700 D RGD:9068941 20210820 RGD PMID:25525274|REF_RGD_ID:150340620 11987237 DICER1 dicer 1, ribonuclease III gene DOID:630 genetic disease ISO RGD:1319699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11987237 DICER1 dicer 1, ribonuclease III gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1319699 D RGD:9068941 20210716 RGD associated with hepatitis B; DNA:SNP: :rs1057035 T>C (human) PMID:23868705|REF_RGD_ID:149735346 11987237 DICER1 dicer 1, ribonuclease III gene DOID:768 retinoblastoma exacerbates ISO RGD:1319700 D RGD:9068941 20210716 RGD DNA:deletion:haploinsufficiency PMID:20019750|REF_RGD_ID:149735324 11987237 DICER1 dicer 1, ribonuclease III gene DOID:9004454 Multinodular Goiter 1 ISO RGD:1319699 D RGD:7240710 20220216 OMIM 11987237 DICER1 dicer 1, ribonuclease III gene DOID:9004454 Multinodular Goiter 1 ISO RGD:1319699 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Euthyroid goiter PMID:18570301|PMID:19556464|PMID:21036787|PMID:21205968|PMID:21266384|PMID:21882293|PMID:22187960|PMID:23620094|PMID:24708902|PMID:24728327|PMID:24909177|PMID:25741868|PMID:26033159|PMID:26467025|PMID:26475046|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26577641|PMID:26925222|PMID:27459524|PMID:28323992|PMID:28492532|PMID:28524158|PMID:29399970|PMID:29474644|PMID:29641532|PMID:29708584|PMID:29881993|PMID:30178239|PMID:30989777|PMID:31342592|PMID:31820118|PMID:32291395|PMID:32714280|PMID:34291157|PMID:34313605|PMID:6261577|PMID:9295070|PMID:9345104 11987237 DICER1 dicer 1, ribonuclease III gene DOID:9005606 Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor ISO RGD:1319699 D RGD:7240710 20190315 OMIM 11987237 DICER1 dicer 1, ribonuclease III gene DOID:9005606 Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor ISO RGD:1319699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GLOW SYNDROME PMID:19556464|PMID:21266384|PMID:24676357|PMID:24839956|PMID:25741868|PMID:28492532|PMID:28825729|PMID:28862265|PMID:30266945 11987237 DICER1 dicer 1, ribonuclease III gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:18453628|PMID:19556464|PMID:21036787|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22180160|PMID:22187960|PMID:23547758|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24481001|PMID:24708902|PMID:24728327|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25348012|PMID:25451712|PMID:25670082|PMID:25741868|PMID:26241669|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26628006|PMID:26666178|PMID:26822237|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:27050224|PMID:27459524|PMID:27819237|PMID:27896549|PMID:27930734|PMID:28012864|PMID:28097783|PMID:28166811|PMID:28202063|PMID:28323992|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28748527|PMID:28825729|PMID:28862265|PMID:29037807|PMID:29187512|PMID:29351919|PMID:29399970|PMID:29474644|PMID:29641532|PMID:29708584|PMID:29762508|PMID:29881993|PMID:29883781|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30665929|PMID:30672147|PMID:30989777|PMID:31342592|PMID:33718253|PMID:9536098 11987237 DICER1 dicer 1, ribonuclease III gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319699 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:18453628|PMID:19556464|PMID:21036787|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22180160|PMID:22187960|PMID:23547758|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24481001|PMID:24708902|PMID:24728327|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25348012|PMID:25451712|PMID:25670082|PMID:25741868|PMID:26241669|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26628006|PMID:26666178|PMID:26822237|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:27050224|PMID:27459524|PMID:27819237|PMID:27896549|PMID:27930734|PMID:28012864|PMID:28097783|PMID:28202063|PMID:28323992|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28748527|PMID:28825729|PMID:28862265|PMID:28873162|PMID:28960912|PMID:29037807|PMID:29187512|PMID:29351919|PMID:29399970|PMID:29474644|PMID:29641532|PMID:29708584|PMID:29762508|PMID:29881993|PMID:29883781|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30665929|PMID:30672147|PMID:30989777|PMID:31342592|PMID:31820118|PMID:32714280|PMID:33372952|PMID:33630087|PMID:33718253|PMID:33729574|PMID:34313605|PMID:9536098 11987237 DICER1 dicer 1, ribonuclease III gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15242644|PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:17920623|PMID:17923214|PMID:18453628|PMID:19556464|PMID:21036787|PMID:21205968|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22157934|PMID:22180160|PMID:22187960|PMID:22546613|PMID:23132766|PMID:23418872|PMID:23547758|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24481001|PMID:24617712|PMID:24675358|PMID:24676357|PMID:24708902|PMID:24728327|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25176334|PMID:25348012|PMID:25356068|PMID:25451712|PMID:25670082|PMID:25741868|PMID:25803323|PMID:25998712|PMID:26033159|PMID:26033501|PMID:26241669|PMID:26289771|PMID:26408257|PMID:26428316|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26592504|PMID:26666178|PMID:26822237|PMID:26841698|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:26983701|PMID:27036314|PMID:27050224|PMID:27126690|PMID:27459524|PMID:27494611|PMID:27664536|PMID:27697588|PMID:27784193|PMID:27819237|PMID:27830405|PMID:27896549|PMID:27930734|PMID:28007021|PMID:28012864|PMID:28097783|PMID:28177962|PMID:28202063|PMID:28222777|PMID:28323992|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28688118|PMID:28748527|PMID:28766837|PMID:28825729|PMID:28862265|PMID:28873162|PMID:28960912|PMID:29037807|PMID:29187512|PMID:29315962|PMID:29351919|PMID:29395683|PMID:29399970|PMID:29459759|PMID:29474644|PMID:29538609|PMID:29641532|PMID:29660837|PMID:29708584|PMID:29753010|PMID:29762508|PMID:29881993|PMID:29883781|PMID:29943907|PMID:29945567|PMID:30093976|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30446821|PMID:30585947|PMID:30597651|PMID:30649606|PMID:30665929|PMID:30672147|PMID:30989777|PMID:31067372|PMID:31285663|PMID:31300551|PMID:31342592|PMID:31820118|PMID:31838154|PMID:31883967|PMID:31900434|PMID:31911633|PMID:32291395|PMID:32714280|PMID:32832834|PMID:32973888|PMID:33372952|PMID:33630087|PMID:33718253|PMID:33729574|PMID:34291157|PMID:34313605|PMID:9345104|PMID:9536098 11987237 DICER1 dicer 1, ribonuclease III gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319699 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15242644|PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:17920623|PMID:17923214|PMID:18453628|PMID:19556464|PMID:21036787|PMID:21205968|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22157934|PMID:22180160|PMID:22187960|PMID:22546613|PMID:23132766|PMID:23418872|PMID:23547758|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24481001|PMID:24617712|PMID:24675358|PMID:24676357|PMID:24708902|PMID:24728327|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25176334|PMID:25348012|PMID:25356068|PMID:25451712|PMID:25670082|PMID:25741868|PMID:25803323|PMID:25998712|PMID:26033159|PMID:26033501|PMID:26241669|PMID:26289771|PMID:26408257|PMID:26428316|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26592504|PMID:26666178|PMID:26822237|PMID:26841698|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:26983701|PMID:27036314|PMID:27050224|PMID:27126690|PMID:27459524|PMID:27494611|PMID:27664536|PMID:27697588|PMID:27784193|PMID:27819237|PMID:27830405|PMID:27896549|PMID:27930734|PMID:28007021|PMID:28012864|PMID:28097783|PMID:28177962|PMID:28202063|PMID:28222777|PMID:28323992|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28688118|PMID:28748527|PMID:28766837|PMID:28825729|PMID:28862265|PMID:28873162|PMID:28960912|PMID:29037807|PMID:29187512|PMID:29315962|PMID:29351919|PMID:29395683|PMID:29399970|PMID:29459759|PMID:29474644|PMID:29538609|PMID:29641532|PMID:29660837|PMID:29708584|PMID:29753010|PMID:29762508|PMID:29881993|PMID:29883781|PMID:29943907|PMID:29945567|PMID:30093976|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30446821|PMID:30585947|PMID:30597651|PMID:30649606|PMID:30665929|PMID:30672147|PMID:30989777|PMID:31067372|PMID:31285663|PMID:31300551|PMID:31342592|PMID:31820118|PMID:31838154|PMID:31883967|PMID:31900434|PMID:31911633|PMID:32291395|PMID:32714280|PMID:32832834|PMID:32973888|PMID:33158809|PMID:33372952|PMID:33630087|PMID:33718253|PMID:33729574|PMID:34291157|PMID:34313605|PMID:9345104|PMID:9536098 11987237 DICER1 dicer 1, ribonuclease III gene DOID:9007188 Liver Neoplasms ISO RGD:1319699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478143 11987237 DICER1 dicer 1, ribonuclease III gene DOID:9008053 Embryonal Rhabdomyosarcoma 2 ISO RGD:1319699 D RGD:7240710 20180130 OMIM 11987237 DICER1 dicer 1, ribonuclease III gene DOID:9008053 Embryonal Rhabdomyosarcoma 2 ISO RGD:1319699 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma, embryonal, 2 PMID:19556464|PMID:21266384|PMID:24909177|PMID:25022261|PMID:25118636|PMID:25741868|PMID:26925222|PMID:27459524|PMID:28492532|PMID:28873162|PMID:30097050|PMID:30446821 11987237 DICER1 dicer 1, ribonuclease III gene DOID:9008939 Breast Neoplasms ISO RGD:1319699 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:21266384|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29474644|PMID:32714280 11987237 DICER1 dicer 1, ribonuclease III gene DOID:9256 colorectal cancer disease_progression ISO RGD:1319699 D RGD:9068941 20210716 RGD PMID:24649159|REF_RGD_ID:149735326 11987237 DICER1 dicer 1, ribonuclease III gene DOID:9256 colorectal cancer susceptibility ISO RGD:1319699 D RGD:9068941 20210716 RGD DNA:SNP: :rs3742330 A>G (human) PMID:30833603|REF_RGD_ID:149735345 11987237 DICER1 dicer 1, ribonuclease III gene DOID:9351 diabetes mellitus ISO RGD:1319700 D RGD:9068941 20210723 RGD PMID:22216196|REF_RGD_ID:149735536 11987299 RPS17 ribosomal protein S17 gene DOID:0111890 Diamond-Blackfan anemia 4 ISO RGD:1351474 D RGD:7240710 20180130 OMIM 11987299 RPS17 ribosomal protein S17 gene DOID:0111890 Diamond-Blackfan anemia 4 ISO RGD:1351474 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 4 PMID:17647292|PMID:19953637|PMID:23718193|PMID:23812780|PMID:25741868 11987299 RPS17 ribosomal protein S17 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1351474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:17647292|PMID:19953637|PMID:25741868 11987299 RPS17 ribosomal protein S17 gene DOID:2717 Bloom syndrome ISO RGD:1351474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11987299 RPS17 ribosomal protein S17 gene DOID:9256 colorectal cancer ISO RGD:1351474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11987329 LHX4 LIM homeobox 4 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1317585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 11987329 LHX4 LIM homeobox 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1317585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11987329 LHX4 LIM homeobox 4 gene DOID:630 genetic disease ISO RGD:1317585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11987329 LHX4 LIM homeobox 4 gene DOID:9005344 Combined Pituitary Hormone Deficiency 1 ISO RGD:1317585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 1 | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 PMID:25741868 11987329 LHX4 LIM homeobox 4 gene DOID:9005891 Combined Pituitary Hormone Deficiency, 6 ISO RGD:1317585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant PMID:28492532 11987329 LHX4 LIM homeobox 4 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1317585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11987329 LHX4 LIM homeobox 4 gene DOID:9008403 Combined Pituitary Hormone Deficiency 4 ISO RGD:1317585 D RGD:7240710 20180130 OMIM 11987329 LHX4 LIM homeobox 4 gene DOID:9008403 Combined Pituitary Hormone Deficiency 4 ISO RGD:1317585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined with or without cerebellar defects | ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica PMID:11567216|PMID:17201807|PMID:17527005|PMID:18073311|PMID:18445675|PMID:20534763|PMID:23029363|PMID:23990694|PMID:24033266|PMID:25741868|PMID:25910213|PMID:27820671|PMID:28492532|PMID:34008892 11987329 LHX4 LIM homeobox 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11987339 DCN decorin gene DOID:0060445 congenital stromal corneal dystrophy ISO RGD:1346102 D RGD:7240710 20180130 OMIM 11987339 DCN decorin gene DOID:0060445 congenital stromal corneal dystrophy ISO RGD:1346102 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital stromal corneal dystrophy PMID:11805522|PMID:15671264|PMID:16935612|PMID:20301741|PMID:21993463|PMID:24413633|PMID:28492532|PMID:5304426 11987339 DCN decorin gene DOID:1063 interstitial nephritis ISO RGD:1346102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16005714 11987339 DCN decorin gene DOID:11714 gestational diabetes ISO RGD:1346102 D RGD:9068941 20200609 RGD PMID:16630654|REF_RGD_ID:2311413 11987339 DCN decorin gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:1346102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12868502 11987339 DCN decorin gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:62188 D RGD:9068941 20220825 MouseDO OMIM:225400 11987339 DCN decorin gene DOID:2841 asthma ISO RGD:61895 D RGD:9068941 20200609 RGD PMID:16387756|REF_RGD_ID:2311423 11987339 DCN decorin gene DOID:3070 high grade glioma disease_progression ISO RGD:1346102 D RGD:9068941 20200609 RGD PMID:15475879|REF_RGD_ID:2311425 11987339 DCN decorin gene DOID:3459 breast carcinoma ISO RGD:1346102 D RGD:9068941 20200609 RGD PMID:18688028|REF_RGD_ID:2311418 11987339 DCN decorin gene DOID:5844 myocardial infarction ISO RGD:61895 D RGD:9068941 20200609 RGD PMID:16311904|REF_RGD_ID:1598497 11987339 DCN decorin gene DOID:630 genetic disease ISO RGD:1346102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11987339 DCN decorin gene DOID:684 hepatocellular carcinoma ISO RGD:1346102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11987339 DCN decorin gene DOID:9000784 Fibrosis ISO RGD:1346102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16005714 11987339 DCN decorin gene DOID:9000784 Fibrosis ISO RGD:61895 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:16005714|REF_RGD_ID:2311424 11987339 DCN decorin gene DOID:9000965 Neoplasm Metastasis ISO RGD:1346102 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:18688028|REF_RGD_ID:2311418 11987339 DCN decorin gene DOID:9001600 Wounds and Injuries ISO RGD:61895 D RGD:9068941 20200609 RGD PMID:19393425|REF_RGD_ID:2311417 11987339 DCN decorin gene DOID:9002165 Diabetic Nephropathies ISO RGD:1346102 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:12187087|REF_RGD_ID:2311415 11987339 DCN decorin gene DOID:9002165 Diabetic Nephropathies ISO RGD:1346102 D RGD:9068941 20200609 RGD protein:increased expression:plasma, urine PMID:11259366|REF_RGD_ID:2311416 11987339 DCN decorin gene DOID:9002165 Diabetic Nephropathies ISO RGD:62188 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17884968|REF_RGD_ID:2311411 11987339 DCN decorin gene DOID:9002165 Diabetic Nephropathies ISO RGD:62188 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;mRNA, protein:decreased expression:kidney cortex, glomerulus PMID:16868749|REF_RGD_ID:2311412 11987339 DCN decorin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61895 D RGD:9068941 20200609 RGD PMID:15713786|REF_RGD_ID:2311414 11987339 DCN decorin gene DOID:9007102 Myocardial Ischemia ISO RGD:1346102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11987339 DCN decorin gene DOID:9007715 Endometrial Neoplasms ISO RGD:1346102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16804899 11987339 DCN decorin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346102 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18414424|REF_RGD_ID:2311410 11987339 DCN decorin gene DOID:9970 obesity ISO RGD:61895 D RGD:9068941 20200609 RGD PMID:17244723|REF_RGD_ID:1600551 11987339 DCN decorin gene DOID:9970 obesity ISO RGD:62188 D RGD:9068941 20200609 RGD PMID:17244723|REF_RGD_ID:1600551 11987361 CHORDC1 cysteine and histidine rich domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1312263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11987361 CHORDC1 cysteine and histidine rich domain containing 1 gene DOID:630 genetic disease ISO RGD:1312263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11987361 CHORDC1 cysteine and histidine rich domain containing 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:1312264 D RGD:9068941 20220825 MouseDO OMIM:608232 11987361 CHORDC1 cysteine and histidine rich domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:0050169 cutaneous lupus erythematosus ISO RGD:1345616 D RGD:9068941 20200609 RGD PMID:21844117|REF_RGD_ID:6892918 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:0060189 ileitis ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:21945903|REF_RGD_ID:6892917 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:0060496 respiratory allergy ISO RGD:1345616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20022477 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:0080600 COVID-19 ISO RGD:1345616 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1345616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1345616 D RGD:9068941 20200609 RGD PMID:20022477|REF_RGD_ID:4145619 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:10247 pleurisy ISO RGD:733966 D RGD:9068941 20200609 RGD associated with Mycobacterium Infections PMID:17158890|REF_RGD_ID:4145643 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:11204 allergic conjunctivitis ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:18658092|REF_RGD_ID:6893389 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:11382 corneal neovascularization ISO RGD:733966 D RGD:9068941 20200609 RGD mRNA:increased expression:cornea PMID:20610836|REF_RGD_ID:6892921 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:12132 granulomatosis with polyangiitis ISO RGD:1345616 D RGD:9068941 20200609 RGD protein:increased expression:blood, T cell PMID:12716450|REF_RGD_ID:6893409 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:12132 granulomatosis with polyangiitis ISO RGD:1345616 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity epithelium PMID:11529927|REF_RGD_ID:4145634 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:13922 eosinophilic esophagitis ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:1316818|REF_RGD_ID:6893390 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:1485 cystic fibrosis ISO RGD:1345616 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion, neutrophil PMID:19017998|REF_RGD_ID:4145632 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:1555 urticaria ISO RGD:1345616 D RGD:9068941 20200609 RGD PMID:15721839|REF_RGD_ID:6893392 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:1824 status epilepticus ISO RGD:1345616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19490431 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:2043 hepatitis B ISO RGD:1345616 D RGD:9068941 20200609 RGD PMID:19185001|REF_RGD_ID:6893388 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:2152 ovary epithelial cancer severity ISO RGD:1345616 D RGD:9068941 20200609 RGD DNA:silent mutation:cds: (rs4987053) (human) PMID:20103664|REF_RGD_ID:6893445 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:2377 multiple sclerosis ISO RGD:1345616 D RGD:9068941 20200609 RGD PMID:21427490|REF_RGD_ID:6892919 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:2841 asthma ISO RGD:1345616 D RGD:9068941 20200609 RGD DNA:SNP:exon:51T>C (human) PMID:20220260|REF_RGD_ID:4145638 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:2841 asthma ISO RGD:1345616 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion, neutrophil PMID:19017998|REF_RGD_ID:4145632 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:2841 asthma ISO RGD:620593 D RGD:9068941 20200609 RGD PMID:16978084|REF_RGD_ID:4145646 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:2841 asthma ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:17145927|PMID:18699933|PMID:19657453|PMID:20134116|REF_RGD_ID:1601020|REF_RGD_ID:4145618|REF_RGD_ID:4145623|REF_RGD_ID:4145633 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:2945 severe acute respiratory syndrome ISO RGD:733966 D RGD:9068941 20200619 RGD mRNA:altered expression:lung (mouse) PMID:15356152|REF_RGD_ID:30309221 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:3042 allergic contact dermatitis ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:22075493|REF_RGD_ID:6892916 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1345616 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion, neutrophil PMID:19017998|REF_RGD_ID:4145632 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:3310 atopic dermatitis ISO RGD:1345616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:3310 atopic dermatitis ISO RGD:1345616 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:16449815|REF_RGD_ID:6893391 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:3770 pulmonary fibrosis ISO RGD:1345616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16314464 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:3770 pulmonary fibrosis ISO RGD:733966 D RGD:9068941 20200609 RGD associated with Lung Injury PMID:16314464|REF_RGD_ID:4145395 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:4483 rhinitis ISO RGD:1345616 D RGD:9068941 20200609 RGD DNA:SNP:exon:51T>C (human) PMID:17135764|REF_RGD_ID:4145111 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:4483 rhinitis ISO RGD:1345616 D RGD:9068941 20200609 RGD protein:increased expression:blood, T cell PMID:17156343|REF_RGD_ID:4145645 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:4483 rhinitis ISO RGD:620593 D RGD:9068941 20200609 RGD mRNA:increased expression:nose PMID:20696593|REF_RGD_ID:4145454 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:4617 periapical granuloma ISO RGD:1345616 D RGD:9068941 20200609 RGD PMID:11683586|REF_RGD_ID:6893426 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1345616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10202824 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:552 pneumonia ISO RGD:733966 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19762220|REF_RGD_ID:4145622 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:5844 myocardial infarction ISO RGD:620593 D RGD:9068941 20200609 RGD PMID:18954648|REF_RGD_ID:4890013 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:630 genetic disease ISO RGD:1345616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1345616 D RGD:9068941 20200609 RGD protein:increased expression:synovial fluid, neutrophil PMID:19017998|REF_RGD_ID:4145632 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1345616 D RGD:9068941 20200609 RGD PMID:19842835|REF_RGD_ID:4145620 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:8577 ulcerative colitis ISO RGD:1345616 D RGD:9068941 20200609 RGD PMID:21077277|REF_RGD_ID:6892920 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:19787232|REF_RGD_ID:6893387 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:9001044 Choroidal Neovascularization ISO RGD:1345616 D RGD:9068941 20200609 RGD associated with Macular Degeneration PMID:19525930|REF_RGD_ID:6893454 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:9001044 Choroidal Neovascularization ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:19525930|REF_RGD_ID:6893454 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:9001371 Eosinophilia ISO RGD:1345616 D RGD:9068941 20200609 RGD associated with Asthma PMID:17983872|REF_RGD_ID:4145642 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:15034073|REF_RGD_ID:6893394 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1345616 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:9004001 Facial Nerve Injuries ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:19922414|REF_RGD_ID:6892922 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:21621198|REF_RGD_ID:6893427 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1345616 D RGD:9068941 20200609 RGD PMID:21180278|REF_RGD_ID:6893428 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:9146 visceral leishmaniasis ISO RGD:1345616 D RGD:9068941 20200609 RGD protein:increased expression:blood, T cell PMID:15379987|REF_RGD_ID:6893393 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:9471 meningitis ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:19887061|REF_RGD_ID:6892923 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:9498 pulmonary eosinophilia ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:20732990|REF_RGD_ID:4145617 11987376 CCR3 C-C motif chemokine receptor 3 gene DOID:9970 obesity ISO RGD:1345616 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue PMID:18492752|REF_RGD_ID:6483834 11987391 SMYD2 SET and MYND domain containing 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1354091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11987391 SMYD2 SET and MYND domain containing 2 gene DOID:630 genetic disease ISO RGD:1354091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11987391 SMYD2 SET and MYND domain containing 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1354091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25825497 11987391 SMYD2 SET and MYND domain containing 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11987406 GPSM2 G protein signaling modulator 2 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1351498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:20602914|PMID:22578326|PMID:30303587|PMID:32747562 11987406 GPSM2 G protein signaling modulator 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1351498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11987406 GPSM2 G protein signaling modulator 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1351498 D RGD:9068941 20200609 RGD DNA:nonsense mutation:cds:p.R127X(human) PMID:20602914|REF_RGD_ID:11552577 11987406 GPSM2 G protein signaling modulator 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1351498 D RGD:9068941 20200609 RGD DNA:nonsense mutation:exon:c.1684C>T(p.Q562X(human) PMID:21348867|REF_RGD_ID:11552574 11987406 GPSM2 G protein signaling modulator 2 gene DOID:12849 autistic disorder ISO RGD:1351498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11987406 GPSM2 G protein signaling modulator 2 gene DOID:630 genetic disease ISO RGD:1351498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 11987406 GPSM2 G protein signaling modulator 2 gene DOID:9000177 Chudley-Mccullough syndrome ISO RGD:1351498 D RGD:7240710 20180130 OMIM 11987406 GPSM2 G protein signaling modulator 2 gene DOID:9000177 Chudley-Mccullough syndrome ISO RGD:1351498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chudley-McCullough syndrome | ClinVar Annotator: match by term: Deafness, autosomal recessive 82 | ClinVar Annotator: match by term: Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction PMID:10449658|PMID:20602914|PMID:21348867|PMID:22578326|PMID:22987632|PMID:23208854|PMID:23494849|PMID:24033266|PMID:25741868|PMID:26445815|PMID:26467025|PMID:28492532|PMID:32747562 11987406 GPSM2 G protein signaling modulator 2 gene DOID:9004538 Hearing Loss ISO RGD:1351498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:30311386 11987406 GPSM2 G protein signaling modulator 2 gene DOID:9008681 Deafness ISO RGD:1351498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 11987426 CMTR1 cap methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1317204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11987460 TCTN1 tectonic family member 1 gene DOID:0050777 Joubert syndrome ISO RGD:1606246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:17576681|PMID:18414213|PMID:21725307|PMID:22693042|PMID:25741868|PMID:25920555|PMID:26489806|PMID:27894351|PMID:28492532|PMID:9536098 11987460 TCTN1 tectonic family member 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1606246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 PMID:16199547|PMID:17576681|PMID:21725307|PMID:22693042|PMID:25741868|PMID:27894351|PMID:28492532|PMID:9536098 11987460 TCTN1 tectonic family member 1 gene DOID:0110982 Joubert Syndrome 13 ISO RGD:1606246 D RGD:7240710 20190315 OMIM 11987460 TCTN1 tectonic family member 1 gene DOID:0110982 Joubert Syndrome 13 ISO RGD:1606246 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome 13 PMID:16199547|PMID:18414213|PMID:21725307|PMID:22693042|PMID:25558065|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26123494|PMID:26477546|PMID:27894351|PMID:28492532|PMID:32949114|PMID:34645488 11987460 TCTN1 tectonic family member 1 gene DOID:630 genetic disease ISO RGD:1606246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11987460 TCTN1 tectonic family member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1606246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17984051 11987460 TCTN1 tectonic family member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1606246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065|PMID:25741868|PMID:26092869 11987460 TCTN1 tectonic family member 1 gene DOID:9008582 Developmental Disease ISO RGD:1606246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:26489806|PMID:28492532 11987499 GMPR2 guanosine monophosphate reductase 2 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1343245 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11987499 GMPR2 guanosine monophosphate reductase 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1343245 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11987499 GMPR2 guanosine monophosphate reductase 2 gene DOID:299 adenocarcinoma ISO RGD:1343245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 11987499 GMPR2 guanosine monophosphate reductase 2 gene DOID:630 genetic disease ISO RGD:1343245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11987499 GMPR2 guanosine monophosphate reductase 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1343245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 11987499 GMPR2 guanosine monophosphate reductase 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1343245 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11987499 GMPR2 guanosine monophosphate reductase 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343245 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11987536 HLF HLF transcription factor, PAR bZIP family member gene DOID:10283 prostate cancer ISO RGD:1347027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11987536 HLF HLF transcription factor, PAR bZIP family member gene DOID:10534 stomach cancer severity ISO RGD:1347027 D RGD:9068941 20220616 RGD mRNA:altered expression:stomach tumor (human) PMID:28035468|REF_RGD_ID:152995287 11987536 HLF HLF transcription factor, PAR bZIP family member gene DOID:630 genetic disease ISO RGD:1347027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11987536 HLF HLF transcription factor, PAR bZIP family member gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1347027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26214592 11987546 CFAP126 cilia and flagella associated protein 126 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1604188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 11987546 CFAP126 cilia and flagella associated protein 126 gene DOID:0050771 pheochromocytoma ISO RGD:1604188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pheochromocytoma 11987546 CFAP126 cilia and flagella associated protein 126 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1604188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11987546 CFAP126 cilia and flagella associated protein 126 gene DOID:1540 parathyroid carcinoma ISO RGD:1604188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11987546 CFAP126 cilia and flagella associated protein 126 gene DOID:630 genetic disease ISO RGD:1604188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11987546 CFAP126 cilia and flagella associated protein 126 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11987553 TOMM40L translocase of outer mitochondrial membrane 40 like gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1604579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11987553 TOMM40L translocase of outer mitochondrial membrane 40 like gene DOID:1540 parathyroid carcinoma ISO RGD:1604579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11987553 TOMM40L translocase of outer mitochondrial membrane 40 like gene DOID:630 genetic disease ISO RGD:1604579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11987553 TOMM40L translocase of outer mitochondrial membrane 40 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11987575 CETN2 centrin 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11987575 CETN2 centrin 2 gene DOID:12849 autistic disorder ISO RGD:736112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11987575 CETN2 centrin 2 gene DOID:630 genetic disease ISO RGD:736112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11987589 YIPF4 Yip1 domain family member 4 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1604267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:25065914|PMID:25741868 11987589 YIPF4 Yip1 domain family member 4 gene DOID:607 paraplegia ISO RGD:1604267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 11987589 YIPF4 Yip1 domain family member 4 gene DOID:630 genetic disease ISO RGD:1604267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11987600 RLIM ring finger protein, LIM domain interacting gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1352466 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability PMID:25735484|PMID:25741868 11987600 RLIM ring finger protein, LIM domain interacting gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11987600 RLIM ring finger protein, LIM domain interacting gene DOID:0112042 Tonne-Kalscheuer syndrome ISO RGD:1352466 D RGD:7240710 20190315 OMIM 11987600 RLIM ring finger protein, LIM domain interacting gene DOID:0112042 Tonne-Kalscheuer syndrome ISO RGD:1352466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT HAND AND FOOT ANOMALIES, GENITAL ANOMALIES, OR CONGENITAL DIAPHRAGMATIC HERNIA PMID:25644381|PMID:25735484|PMID:25741868|PMID:29728705|PMID:29742418 11987600 RLIM ring finger protein, LIM domain interacting gene DOID:10283 prostate cancer ISO RGD:1352466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11987600 RLIM ring finger protein, LIM domain interacting gene DOID:12849 autistic disorder ISO RGD:1352466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11987600 RLIM ring finger protein, LIM domain interacting gene DOID:630 genetic disease ISO RGD:1352466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25644381|PMID:25735484|PMID:29728705|PMID:29742418|PMID:33255631 11987600 RLIM ring finger protein, LIM domain interacting gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352466 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 11987600 RLIM ring finger protein, LIM domain interacting gene DOID:9008086 Developmental Disabilities ISO RGD:1352466 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25735484|PMID:25741868 11987610 PRPF6 pre-mRNA processing factor 6 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316097 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11987610 PRPF6 pre-mRNA processing factor 6 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1316097 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11987610 PRPF6 pre-mRNA processing factor 6 gene DOID:0110411 retinitis pigmentosa 60 ISO RGD:1316097 D RGD:7240710 20180130 OMIM 11987610 PRPF6 pre-mRNA processing factor 6 gene DOID:0110411 retinitis pigmentosa 60 ISO RGD:1316097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 60 PMID:21549338|PMID:25741868|PMID:28492532 11987610 PRPF6 pre-mRNA processing factor 6 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316097 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11987610 PRPF6 pre-mRNA processing factor 6 gene DOID:10584 retinitis pigmentosa ISO RGD:1316097 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 11987610 PRPF6 pre-mRNA processing factor 6 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1316097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 11987610 PRPF6 pre-mRNA processing factor 6 gene DOID:630 genetic disease ISO RGD:1316097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11987610 PRPF6 pre-mRNA processing factor 6 gene DOID:8501 fundus dystrophy ISO RGD:1316097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17576681|PMID:25356976|PMID:28492532|PMID:9536098 11987635 CHAF1B chromatin assembly factor 1 subunit B gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1316940 D RGD:9068941 20200609 RGD protein:increased expression:mouth mucosa: PMID:22882088|REF_RGD_ID:9587477 11987635 CHAF1B chromatin assembly factor 1 subunit B gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1316940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11987635 CHAF1B chromatin assembly factor 1 subunit B gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1316940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11987635 CHAF1B chromatin assembly factor 1 subunit B gene DOID:10283 prostate cancer ISO RGD:1316940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11987635 CHAF1B chromatin assembly factor 1 subunit B gene DOID:10283 prostate cancer disease_progression ISO RGD:1316940 D RGD:9068941 20200609 RGD protein:increased expression:prostate: PMID:19309489|REF_RGD_ID:9587461 11987635 CHAF1B chromatin assembly factor 1 subunit B gene DOID:3068 glioblastoma ISO RGD:1316940 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:24039914|REF_RGD_ID:9587472 11987635 CHAF1B chromatin assembly factor 1 subunit B gene DOID:3070 high grade glioma disease_progression ISO RGD:1316940 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:24039914|REF_RGD_ID:9587472 11987635 CHAF1B chromatin assembly factor 1 subunit B gene DOID:403 mouth disease ISO RGD:1316940 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 11987635 CHAF1B chromatin assembly factor 1 subunit B gene DOID:630 genetic disease ISO RGD:1316940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11987635 CHAF1B chromatin assembly factor 1 subunit B gene DOID:684 hepatocellular carcinoma ISO RGD:1316940 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11987635 CHAF1B chromatin assembly factor 1 subunit B gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1316940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 11987635 CHAF1B chromatin assembly factor 1 subunit B gene DOID:8923 skin melanoma severity ISO RGD:1316940 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:20178651|REF_RGD_ID:9587476 11987635 CHAF1B chromatin assembly factor 1 subunit B gene DOID:9003216 Salivary Gland Neoplasms disease_progression ISO RGD:1316940 D RGD:9068941 20200609 RGD protein:increased expression:salivary gland: PMID:21109952|REF_RGD_ID:9587467 11987635 CHAF1B chromatin assembly factor 1 subunit B gene DOID:9008086 Developmental Disabilities ISO RGD:1316940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 11987635 CHAF1B chromatin assembly factor 1 subunit B gene DOID:9008192 Neoplastic Processes ISO RGD:1316940 D RGD:9068941 20200609 RGD protein:increased expression:: PMID:22882088|REF_RGD_ID:9587477 11987654 LIPI lipase I gene DOID:10652 Alzheimer's disease ISO RGD:1605865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 11987654 LIPI lipase I gene DOID:630 genetic disease ISO RGD:1605865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11987654 LIPI lipase I gene DOID:9000810 HYPERTRIGLYCERIDEMIA 1 ISO RGD:1605865 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia, familial PMID:12719377|PMID:28492532 11987654 LIPI lipase I gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11987654 LIPI lipase I gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:1605865 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.C55Y PMID:12719377|REF_RGD_ID:1625450 11987680 ANKIB1 ankyrin repeat and IBR domain containing 1 gene DOID:0060669 cerebral cavernous malformation ISO RGD:1316285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation PMID:25741868 11987680 ANKIB1 ankyrin repeat and IBR domain containing 1 gene DOID:2843 long QT syndrome ISO RGD:1316285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11987680 ANKIB1 ankyrin repeat and IBR domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11987680 ANKIB1 ankyrin repeat and IBR domain containing 1 gene DOID:630 genetic disease ISO RGD:1316285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11987680 ANKIB1 ankyrin repeat and IBR domain containing 1 gene DOID:9000043 Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas ISO RGD:1316285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas PMID:25741868 11987708 BHLHE22 basic helix-loop-helix family member e22 gene DOID:630 genetic disease ISO RGD:1313486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11987717 AP3S1 adaptor related protein complex 3 subunit sigma 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1322400 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11987717 AP3S1 adaptor related protein complex 3 subunit sigma 1 gene DOID:12849 autistic disorder ISO RGD:1322400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11987717 AP3S1 adaptor related protein complex 3 subunit sigma 1 gene DOID:630 genetic disease ISO RGD:1322400 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11987717 AP3S1 adaptor related protein complex 3 subunit sigma 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11987717 AP3S1 adaptor related protein complex 3 subunit sigma 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11987717 AP3S1 adaptor related protein complex 3 subunit sigma 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322400 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11987737 GALE UDP-galactose-4-epimerase gene DOID:0111458 galactose epimerase deficiency ISO RGD:733015 D RGD:7240710 20191106 OMIM 11987737 GALE UDP-galactose-4-epimerase gene DOID:0111458 galactose epimerase deficiency ISO RGD:733015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: UDPglucose-4-epimerase deficiency PMID:10086948|PMID:11117433|PMID:11279193|PMID:15639193|PMID:16199547|PMID:16301867|PMID:16302980|PMID:16385452|PMID:17576681|PMID:18188677|PMID:19250319|PMID:21703329|PMID:23430501|PMID:23644136|PMID:23732289|PMID:24033266|PMID:24578239|PMID:25150110|PMID:25741868|PMID:26565537|PMID:27604308|PMID:28173647|PMID:28247339|PMID:28492532|PMID:30247636|PMID:33510604|PMID:6408303|PMID:7305435|PMID:9326324|PMID:9536098|PMID:9538513|PMID:9973283 11987737 GALE UDP-galactose-4-epimerase gene DOID:630 genetic disease ISO RGD:733015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10086948|PMID:11117433|PMID:11279193|PMID:18188677|PMID:23644136|PMID:23732289|PMID:25741868|PMID:27604308|PMID:28247339|PMID:28492532|PMID:6408303|PMID:7305435|PMID:9973283 11987737 GALE UDP-galactose-4-epimerase gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:733015 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11987737 GALE UDP-galactose-4-epimerase gene DOID:9870 galactosemia ISO RGD:733015 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25526675 11987769 MIS18BP1 MIS18 binding protein 1 gene DOID:630 genetic disease ISO RGD:1313558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11987769 MIS18BP1 MIS18 binding protein 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1313558 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11987790 TRNAU1AP tRNA selenocysteine 1 associated protein 1 gene DOID:630 genetic disease ISO RGD:733380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11987803 TMEM120A transmembrane protein 120A gene DOID:0080925 cytochrome P450 oxidoreductase deficiency ISO RGD:1605325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 11987803 TMEM120A transmembrane protein 120A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11987803 TMEM120A transmembrane protein 120A gene DOID:630 genetic disease ISO RGD:1605325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11987803 TMEM120A transmembrane protein 120A gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1605325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 11987822 SLC36A1 solute carrier family 36 member 1 gene DOID:0080287 spinocerebellar ataxia 45 ISO RGD:736301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 45 PMID:20301317|PMID:25741868|PMID:28492532|PMID:29053796|PMID:29847346 11987822 SLC36A1 solute carrier family 36 member 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736301 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11987822 SLC36A1 solute carrier family 36 member 1 gene DOID:0112265 iminoglycinuria ISO RGD:736301 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Iminoglycinuria PMID:19033659 11987822 SLC36A1 solute carrier family 36 member 1 gene DOID:630 genetic disease ISO RGD:736301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11987822 SLC36A1 solute carrier family 36 member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736301 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11987822 SLC36A1 solute carrier family 36 member 1 gene DOID:9008487 Glycinuria with or without Oxalate Urolithiasis ISO RGD:736301 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hyperglycinuria PMID:19033659 11987869 RNF11 ring finger protein 11 gene DOID:630 genetic disease ISO RGD:1314582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11987876 CHL1 cell adhesion molecule L1 like gene DOID:1059 intellectual disability ISO RGD:1346370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12812975 11987876 CHL1 cell adhesion molecule L1 like gene DOID:12849 autistic disorder ISO RGD:1346370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11987876 CHL1 cell adhesion molecule L1 like gene DOID:1826 epilepsy ISO RGD:1346370 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11987876 CHL1 cell adhesion molecule L1 like gene DOID:5419 schizophrenia ISO RGD:1346370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11986985|PMID:15653271 11987876 CHL1 cell adhesion molecule L1 like gene DOID:5419 schizophrenia ISO RGD:1346370 D RGD:9068941 20200609 RGD PMID:11986985|REF_RGD_ID:1358505 11987876 CHL1 cell adhesion molecule L1 like gene DOID:630 genetic disease ISO RGD:1346370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11987876 CHL1 cell adhesion molecule L1 like gene DOID:9000039 Spinal Cord Injuries ISO RGD:620122 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (rat) PMID:21337374|REF_RGD_ID:6483045 11987876 CHL1 cell adhesion molecule L1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11987876 Chl1 cell adhesion molecule L1-like gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:620122 D RGD:9068941 20200609 RGD PMID:21452236|REF_RGD_ID:6483040 11987918 PGPEP1L pyroglutamyl-peptidase I like gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:3052652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 11987918 PGPEP1L pyroglutamyl-peptidase I like gene DOID:630 genetic disease ISO RGD:3052652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11987927 CNOT1 CCR4-NOT transcription complex subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602129 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11987927 CNOT1 CCR4-NOT transcription complex subunit 1 gene DOID:0060751 familial temporal lobe epilepsy 7 ISO RGD:1602129 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 7 PMID:25741868 11987927 CNOT1 CCR4-NOT transcription complex subunit 1 gene DOID:0080950 alopecia-mental retardation syndrome 4 ISO RGD:1602129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 4 PMID:25741868 11987927 CNOT1 CCR4-NOT transcription complex subunit 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602129 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11987927 CNOT1 CCR4-NOT transcription complex subunit 1 gene DOID:1059 intellectual disability ISO RGD:1602129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11987927 CNOT1 CCR4-NOT transcription complex subunit 1 gene DOID:1826 epilepsy ISO RGD:1602129 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11987927 CNOT1 CCR4-NOT transcription complex subunit 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602129 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11987927 CNOT1 CCR4-NOT transcription complex subunit 1 gene DOID:4621 holoprosencephaly ISO RGD:1602129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:25741868|PMID:28525974|PMID:31006510|PMID:31006513|PMID:32553196 11987927 CNOT1 CCR4-NOT transcription complex subunit 1 gene DOID:630 genetic disease ISO RGD:1602129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 11987927 CNOT1 CCR4-NOT transcription complex subunit 1 gene DOID:9000895 Preterm Intraventricular Hemorrhage ISO RGD:1602129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Preterm intraventricular hemorrhage PMID:25741868 11987927 CNOT1 CCR4-NOT transcription complex subunit 1 gene DOID:9004008 VISSERS-BODMER SYNDROME ISO RGD:1602129 D RGD:7240710 20201223 OMIM 11987927 CNOT1 CCR4-NOT transcription complex subunit 1 gene DOID:9004008 VISSERS-BODMER SYNDROME ISO RGD:1602129 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Vissers-Bodmer syndrome PMID:25741868|PMID:28492532|PMID:32553196 11987927 CNOT1 CCR4-NOT transcription complex subunit 1 gene DOID:9004991 Holoprosencephaly 12 ISO RGD:1602129 D RGD:7240710 20190731 OMIM 11987927 CNOT1 CCR4-NOT transcription complex subunit 1 gene DOID:9004991 Holoprosencephaly 12 ISO RGD:1602129 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: CNOT1-Related Disorder | ClinVar Annotator: match by term: Holoprosencephaly 12 with or without pancreatic agenesis PMID:25741868|PMID:28492532|PMID:28525974|PMID:31006510|PMID:31006513|PMID:32553196 11987995 LOC100995302 RAD54 like 2 gene DOID:630 genetic disease ISO RGD:1604389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11988031 ZNF528 zinc finger protein 528 gene DOID:4990 essential tremor ISO RGD:1350395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:28492532|PMID:33279834 11988031 ZNF528 zinc finger protein 528 gene DOID:630 genetic disease ISO RGD:1350395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11988039 C4H4orf50 chromosome 4 C4orf50 homolog gene DOID:6678 tooth and nail syndrome ISO RGD:1602802 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:14630905|PMID:28492532|PMID:9742121 11988055 NRCAM neuronal cell adhesion molecule gene DOID:0060041 autism spectrum disorder ISO RGD:735378 D RGD:9068941 20220825 MouseDO 11988055 NRCAM neuronal cell adhesion molecule gene DOID:12849 autistic disorder ISO RGD:731343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17106428|PMID:18664314 11988055 NRCAM neuronal cell adhesion molecule gene DOID:303 substance-related disorder ISO RGD:731343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123759 11988055 NRCAM neuronal cell adhesion molecule gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11988055 NRCAM neuronal cell adhesion molecule gene DOID:630 genetic disease ISO RGD:731343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:35108495 11988055 NRCAM neuronal cell adhesion molecule gene DOID:9002189 High Myopia ISO RGD:731343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11988055 NRCAM neuronal cell adhesion molecule gene DOID:9007937 NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES ISO RGD:731343 D RGD:7240710 20220706 OMIM 11988055 NRCAM neuronal cell adhesion molecule gene DOID:9007937 NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES ISO RGD:731343 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: NRCAM-related disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with neuromuscular and skeletal abnormalities PMID:25741868|PMID:35108495 11988055 NRCAM neuronal cell adhesion molecule gene DOID:9008443 Colorectal Neoplasms ISO RGD:731343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 11988055 NRCAM neuronal cell adhesion molecule gene DOID:9008939 Breast Neoplasms ISO RGD:731343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 11988183 ERP29 endoplasmic reticulum protein 29 gene DOID:3910 lung adenocarcinoma ISO RGD:735473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 11988183 ERP29 endoplasmic reticulum protein 29 gene DOID:630 genetic disease ISO RGD:735473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11988183 ERP29 endoplasmic reticulum protein 29 gene DOID:684 hepatocellular carcinoma ISO RGD:735473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11988183 ERP29 endoplasmic reticulum protein 29 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 11988183 ERP29 endoplasmic reticulum protein 29 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11988207 MRPL55 mitochondrial ribosomal protein L55 gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:1317775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:28492532 11988207 MRPL55 mitochondrial ribosomal protein L55 gene DOID:1540 parathyroid carcinoma ISO RGD:1317775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11988207 MRPL55 mitochondrial ribosomal protein L55 gene DOID:630 genetic disease ISO RGD:1317775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11988207 MRPL55 mitochondrial ribosomal protein L55 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11988234 DNAJB14 DnaJ heat shock protein family (Hsp40) member B14 gene DOID:630 genetic disease ISO RGD:1605332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11988258 TIMM29 translocase of inner mitochondrial membrane 29 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1602195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11988258 TIMM29 translocase of inner mitochondrial membrane 29 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1602195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11988258 TIMM29 translocase of inner mitochondrial membrane 29 gene DOID:0111254 glutaric acidemia I ISO RGD:1602195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11988258 TIMM29 translocase of inner mitochondrial membrane 29 gene DOID:13810 familial hypercholesterolemia ISO RGD:1602195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:28492532 11988258 TIMM29 translocase of inner mitochondrial membrane 29 gene DOID:3413 alpha-mannosidosis ISO RGD:1602195 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11988262 ZSWIM2 zinc finger SWIM-type containing 2 gene DOID:630 genetic disease ISO RGD:1322798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11988262 ZSWIM2 zinc finger SWIM-type containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11988275 UBD ubiquitin D gene DOID:10608 celiac disease ISO RGD:69468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 11988275 UBD ubiquitin D gene DOID:11372 megacolon ISO RGD:69468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11988275 UBD ubiquitin D gene DOID:12236 primary biliary cholangitis ISO RGD:69468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18422935 11988275 UBD ubiquitin D gene DOID:630 genetic disease ISO RGD:69468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11988275 UBD ubiquitin D gene DOID:684 hepatocellular carcinoma ISO RGD:69468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 11988275 UBD ubiquitin D gene DOID:9000722 Animal Hepatitis ISO RGD:69468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18559427 11988275 UBD ubiquitin D gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11988275 UBD ubiquitin D gene DOID:9008939 Breast Neoplasms ISO RGD:69468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 11988275 Ubd ubiquitin D gene DOID:5844 myocardial infarction ISO RGD:69418 D RGD:9068941 20210521 RGD mRNA, protein; increased expression; myocardium (rat) PMID:29438664|REF_RGD_ID:126925221 11988282 GSS glutathione synthetase gene DOID:0080699 glutathione synthetase deficiency ISO RGD:735330 D RGD:9068941 20220224 RGD DNA:missense mutations:cds:multiple (human) PMID:9215686|REF_RGD_ID:1302516 11988282 GSS glutathione synthetase gene DOID:0080699 glutathione synthetase deficiency ISO RGD:735330 D RGD:9068941 20220224 RGD DNA:mutations: :multiple (human) PMID:8896573|REF_RGD_ID:1599324 11988282 GSS glutathione synthetase gene DOID:0080699 glutathione synthetase deficiency ISO RGD:735330 D RGD:9068941 20220303 CTD CTD Direct Evidence: marker/mechanism 11988282 GSS glutathione synthetase gene DOID:0081034 glutatione synthetase deficiency with 5-oxoprolinuria ISO RGD:735330 D RGD:7240710 20220223 OMIM 11988282 GSS glutathione synthetase gene DOID:0112252 glutathione synthetase deficiency of erythrocytes ISO RGD:735330 D RGD:7240710 20180130 OMIM 11988282 GSS glutathione synthetase gene DOID:0112252 glutathione synthetase deficiency of erythrocytes ISO RGD:735330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to PMID:11167850|PMID:15717202|PMID:25741868|PMID:28492532|PMID:5476481|PMID:8896573 11988282 GSS glutathione synthetase gene DOID:10652 Alzheimer's disease ISO RGD:735330 D RGD:9068941 20200609 RGD PMID:15693022|REF_RGD_ID:5508441 11988282 GSS glutathione synthetase gene DOID:2773 contact dermatitis ISO RGD:735330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11988282 GSS glutathione synthetase gene DOID:2843 long QT syndrome ISO RGD:735330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11988282 GSS glutathione synthetase gene DOID:305 carcinoma ISO RGD:735330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11988282 GSS glutathione synthetase gene DOID:403 mouth disease ISO RGD:735330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 11988282 GSS glutathione synthetase gene DOID:5419 schizophrenia ISO RGD:735330 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11988282 GSS glutathione synthetase gene DOID:630 genetic disease ISO RGD:735330 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15717202|PMID:17479648|PMID:17576681|PMID:25741868|PMID:25851806|PMID:28492532|PMID:28822442|PMID:8896573|PMID:9536098 11988282 GSS glutathione synthetase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11988282 GSS glutathione synthetase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11988282 GSS glutathione synthetase gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:2752 D RGD:9068941 20200609 RGD PMID:17897920|REF_RGD_ID:11353819 11988312 ATOSB atos homolog B gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1322605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11988312 ATOSB atos homolog B gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1322605 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11988312 ATOSB atos homolog B gene DOID:0080942 anauxetic dysplasia ISO RGD:1322605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11988312 ATOSB atos homolog B gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1322605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 11988312 ATOSB atos homolog B gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1322605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11988312 ATOSB atos homolog B gene DOID:630 genetic disease ISO RGD:1322605 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11988312 ATOSB atos homolog B gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1322605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 11988312 ATOSB atos homolog B gene DOID:9562 primary ciliary dyskinesia ISO RGD:1322605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11988312 ATOSB atos homolog B gene DOID:9870 galactosemia ISO RGD:1322605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11988344 HS2ST1 heparan sulfate 2-O-sulfotransferase 1 gene DOID:630 genetic disease ISO RGD:1313348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11988344 HS2ST1 heparan sulfate 2-O-sulfotransferase 1 gene DOID:9003425 NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS ISO RGD:1313348 D RGD:7240710 20210317 OMIM 11988344 HS2ST1 heparan sulfate 2-O-sulfotransferase 1 gene DOID:9003425 NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS ISO RGD:1313348 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurofacioskeletal syndrome with or without renal agenesis PMID:25741868|PMID:28492532|PMID:33159882 11988359 APCDD1L APC down-regulated 1 like gene DOID:630 genetic disease ISO RGD:1605849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11988367 CTU2 cytosolic thiouridylase subunit 2 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1604165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 11988367 CTU2 cytosolic thiouridylase subunit 2 gene DOID:0080205 CAKUT ISO RGD:1604165 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:28492532|PMID:30143558 11988367 CTU2 cytosolic thiouridylase subunit 2 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1604165 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11988367 CTU2 cytosolic thiouridylase subunit 2 gene DOID:14780 KBG syndrome ISO RGD:1604165 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 11988367 CTU2 cytosolic thiouridylase subunit 2 gene DOID:630 genetic disease ISO RGD:1604165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11988367 CTU2 cytosolic thiouridylase subunit 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1604165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 11988367 CTU2 cytosolic thiouridylase subunit 2 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1604165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 11988367 CTU2 cytosolic thiouridylase subunit 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1604165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 11988367 CTU2 cytosolic thiouridylase subunit 2 gene DOID:9006205 Animal Disease Models ISO RGD:1604165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 11988367 CTU2 cytosolic thiouridylase subunit 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1604165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 11988367 CTU2 cytosolic thiouridylase subunit 2 gene DOID:9009244 Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome ISO RGD:1604165 D RGD:7240710 20190315 OMIM 11988367 CTU2 cytosolic thiouridylase subunit 2 gene DOID:9009244 Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome ISO RGD:1604165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome PMID:25081361|PMID:25741868|PMID:26633546|PMID:27480277|PMID:28492532|PMID:31301155 11988400 TAGLN transgelin gene DOID:0060017 CD3epsilon deficiency ISO RGD:11324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 11988400 TAGLN transgelin gene DOID:0060837 isolated microphthalmia 5 ISO RGD:11324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11988400 TAGLN transgelin gene DOID:0080685 aortic dissection treatment ISO RGD:11323 D RGD:9068941 20230223 RGD Apolipoprotein E knockout PMID:33403385|REF_RGD_ID:156420156 11988400 TAGLN transgelin gene DOID:0080690 RASopathy ISO RGD:11324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11988400 TAGLN transgelin gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:11324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 11988400 TAGLN transgelin gene DOID:0111123 nephronophthisis 15 ISO RGD:11324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 11988400 TAGLN transgelin gene DOID:0111971 immunodeficiency 18 ISO RGD:11324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 11988400 TAGLN transgelin gene DOID:0111972 immunodeficiency 19 ISO RGD:11324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 11988400 TAGLN transgelin gene DOID:0111973 immunodeficiency 17 ISO RGD:11324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 11988400 TAGLN transgelin gene DOID:1059 intellectual disability ISO RGD:11324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11988400 TAGLN transgelin gene DOID:289 endometriosis ISO RGD:11324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 11988400 TAGLN transgelin gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:11324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 11988400 TAGLN transgelin gene DOID:630 genetic disease ISO RGD:11324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11988400 TAGLN transgelin gene DOID:9000058 Keloid ISO RGD:11324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 11988400 TAGLN transgelin gene DOID:9002928 Colonic Neoplasms ISO RGD:11324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 11988400 TAGLN transgelin gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:11324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11988400 TAGLN transgelin gene DOID:9006182 Carotid Artery Injuries ISO RGD:3723 D RGD:9068941 20230202 RGD mRNA:decreased expression:carotid artery: PMID:34694145|REF_RGD_ID:155883160 11988400 TAGLN transgelin gene DOID:9007661 Dwarfism ISO RGD:11324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11988400 TAGLN transgelin gene DOID:9455 lipid storage disease ISO RGD:11324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414|PMID:17175557 11988435 DOK3 docking protein 3 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1323508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11988435 DOK3 docking protein 3 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1323508 D RGD:9068941 20220512 RGD DNA:SNP:3'utr: (rs2279398) (human) PMID:27354594|REF_RGD_ID:152177496 11988435 DOK3 docking protein 3 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1323508 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11988435 DOK3 docking protein 3 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1323508 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 11988435 DOK3 docking protein 3 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1323509 D RGD:9068941 20220519 RGD PMID:20139980|REF_RGD_ID:152177521 11988435 DOK3 docking protein 3 gene DOID:630 genetic disease ISO RGD:1323508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11988435 DOK3 docking protein 3 gene DOID:9005172 Lung Neoplasms ISO RGD:1323508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20139980 11988435 DOK3 docking protein 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1323508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11988462 BMX BMX non-receptor tyrosine kinase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11988462 BMX BMX non-receptor tyrosine kinase gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1605440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 11988462 BMX BMX non-receptor tyrosine kinase gene DOID:12849 autistic disorder ISO RGD:1605440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11988462 BMX BMX non-receptor tyrosine kinase gene DOID:13636 Fanconi anemia ISO RGD:1605440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 11988462 BMX BMX non-receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:1605440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11988462 BMX BMX non-receptor tyrosine kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11988490 PDLIM1 PDZ and LIM domain 1 gene DOID:630 genetic disease ISO RGD:68448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11988500 TENM2 teneurin transmembrane protein 2 gene DOID:10485 esophageal atresia ISO RGD:732274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 11988500 TENM2 teneurin transmembrane protein 2 gene DOID:303 substance-related disorder ISO RGD:732274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11988500 TENM2 teneurin transmembrane protein 2 gene DOID:630 genetic disease ISO RGD:732274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11988539 RIMKLA ribosomal modification protein rimK like family member A gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11988539 RIMKLA ribosomal modification protein rimK like family member A gene DOID:630 genetic disease ISO RGD:1606921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11988548 TEX9 testis expressed 9 gene DOID:2717 Bloom syndrome ISO RGD:1606392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11988548 TEX9 testis expressed 9 gene DOID:630 genetic disease ISO RGD:1606392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11988548 TEX9 testis expressed 9 gene DOID:9003544 Visceral Heterotaxy 9, Autosomal ISO RGD:1606392 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 9, autosomal, with male infertility PMID:25741868|PMID:28492532|PMID:30148830|PMID:31534215 11988548 TEX9 testis expressed 9 gene DOID:9256 colorectal cancer ISO RGD:1606392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11988577 LRRFIP2 LRR binding FLII interacting protein 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:1314733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lynch syndrome II PMID:21785361 11988577 LRRFIP2 LRR binding FLII interacting protein 2 gene DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 ISO RGD:1314733 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 PMID:21785361|PMID:25741868 11988577 LRRFIP2 LRR binding FLII interacting protein 2 gene DOID:3883 Lynch syndrome ISO RGD:1314733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10422993|PMID:28492532 11988577 LRRFIP2 LRR binding FLII interacting protein 2 gene DOID:630 genetic disease ISO RGD:1314733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11988577 LRRFIP2 LRR binding FLII interacting protein 2 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1314733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 11988623 STAR steroidogenic acute regulatory protein gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:735413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia | ClinVar Annotator: match by term: Lipoid CAH PMID:10215405|PMID:10323391|PMID:10486704|PMID:10566637|PMID:10700722|PMID:11061515|PMID:11279152|PMID:11509019|PMID:12725533|PMID:12909641|PMID:14764819|PMID:15289763|PMID:15347444|PMID:15546900|PMID:15666846|PMID:15985476|PMID:16103714|PMID:16118340|PMID:16199547|PMID:16968793|PMID:17301050|PMID:18729825|PMID:19245813|PMID:19773404|PMID:20444910|PMID:21164258|PMID:21647419|PMID:21846663|PMID:22028173|PMID:22083155|PMID:22903695|PMID:23211570|PMID:23748066|PMID:23859637|PMID:23920000|PMID:24790358|PMID:24904850|PMID:24953586|PMID:25525159|PMID:25741868|PMID:25883920|PMID:26467025|PMID:26523528|PMID:26650942|PMID:26827627|PMID:27047663|PMID:28467518|PMID:28492532|PMID:28546232|PMID:28637490|PMID:29576868|PMID:30400872|PMID:30476142|PMID:31286101|PMID:31666050|PMID:32252217|PMID:33227378|PMID:34243750|PMID:34258490|PMID:7892608|PMID:8634702|PMID:8943003|PMID:8948562|PMID:9077535|PMID:9097960|PMID:9141542|PMID:9215316|PMID:9279522 11988623 STAR steroidogenic acute regulatory protein gene DOID:0050811 congenital adrenal hyperplasia susceptibility ISO RGD:735413 D RGD:9068941 20200609 RGD DNA:transversion:intron:g.IVS4-11T>A (human) PMID:8634702|REF_RGD_ID:1600070 11988623 STAR steroidogenic acute regulatory protein gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:735413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 11988623 STAR steroidogenic acute regulatory protein gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:735413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 11988623 STAR steroidogenic acute regulatory protein gene DOID:11612 polycystic ovary syndrome ISO RGD:3770 D RGD:9068941 20200609 RGD protein:increased expression:ovary (rat) PMID:19698287|REF_RGD_ID:4145934 11988623 STAR steroidogenic acute regulatory protein gene DOID:11612 polycystic ovary syndrome ISO RGD:735413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21262361 11988623 STAR steroidogenic acute regulatory protein gene DOID:1459 hypothyroidism ISO RGD:3770 D RGD:9068941 20200609 RGD mRNA:increased expression:corpus luteum (rat) PMID:17244746|REF_RGD_ID:4889527 11988623 STAR steroidogenic acute regulatory protein gene DOID:1924 hypogonadism ISO RGD:3770 D RGD:9068941 20200609 RGD mRNA:decreased expression:testis (rat) PMID:17880366|REF_RGD_ID:4833436 11988623 STAR steroidogenic acute regulatory protein gene DOID:2527 nephrosis ISO RGD:3770 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary PMID:16574160|REF_RGD_ID:1599698 11988623 STAR steroidogenic acute regulatory protein gene DOID:607 paraplegia ISO RGD:735413 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11988623 STAR steroidogenic acute regulatory protein gene DOID:630 genetic disease ISO RGD:735413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11988623 STAR steroidogenic acute regulatory protein gene DOID:9000972 Fever ISO RGD:3770 D RGD:9068941 20200609 RGD protein:decreased expression:testis (rat) PMID:20389168|REF_RGD_ID:4845252 11988623 STAR steroidogenic acute regulatory protein gene DOID:9002231 Fetal Growth Retardation ISO RGD:3770 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland, maternal (rat) PMID:17881205|REF_RGD_ID:4832477 11988623 STAR steroidogenic acute regulatory protein gene DOID:9003787 Lipoid Congenital Adrenal Hyperplasia ISO RGD:735413 D RGD:7240710 20180130 OMIM 11988623 STAR steroidogenic acute regulatory protein gene DOID:9003787 Lipoid Congenital Adrenal Hyperplasia ISO RGD:735413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital lipoid adrenal hyperplasia | ClinVar Annotator: match by term: Lipoid hyperplasia congenital of adrenal cortex with male pseudohermaphroditism PMID:10215405|PMID:10323391|PMID:10486704|PMID:10566637|PMID:10700722|PMID:11061515|PMID:11279152|PMID:11509019|PMID:12725533|PMID:12909641|PMID:14764819|PMID:15289763|PMID:15347444|PMID:15546900|PMID:15666846|PMID:15985476|PMID:16103714|PMID:16118340|PMID:16199547|PMID:16968793|PMID:17301050|PMID:18729825|PMID:19245813|PMID:19773404|PMID:20444910|PMID:21164258|PMID:21647419|PMID:21846663|PMID:22028173|PMID:22083155|PMID:22903695|PMID:23211570|PMID:23748066|PMID:23859637|PMID:23920000|PMID:24790358|PMID:24904850|PMID:24953586|PMID:25525159|PMID:25741868|PMID:25883920|PMID:26467025|PMID:26523528|PMID:26650942|PMID:26827627|PMID:27047663|PMID:28467518|PMID:28492532|PMID:28546232|PMID:28637490|PMID:29576868|PMID:30400872|PMID:30476142|PMID:31286101|PMID:31666050|PMID:32252217|PMID:33227378|PMID:34243750|PMID:34258490|PMID:7892608|PMID:8634702|PMID:8943003|PMID:8948562|PMID:9077535|PMID:9097960|PMID:9141542|PMID:9215316|PMID:9279522 11988623 STAR steroidogenic acute regulatory protein gene DOID:9003936 Cardiomegaly ISO RGD:3770 D RGD:9068941 20200609 RGD mRNA:increased expression:cardiac muscle tissue (rat) PMID:19349910|REF_RGD_ID:4145630 11988623 STAR steroidogenic acute regulatory protein gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3770 D RGD:9068941 20200609 RGD mRNA:decreased expression:sciatic nerve (rat) PMID:20826654|REF_RGD_ID:4145530 11988623 STAR steroidogenic acute regulatory protein gene DOID:9007715 Endometrial Neoplasms ISO RGD:735413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23200943 11988623 STAR steroidogenic acute regulatory protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:3770 D RGD:9068941 20200609 RGD mRNA:decreased expression:testis, Leydig cell (rat) PMID:18481435|REF_RGD_ID:4889107 11988633 JAK3 Janus kinase 3 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:737593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23832011 11988633 JAK3 Janus kinase 3 gene DOID:0050458 juvenile myelomonocytic leukemia disease_progression ISO RGD:737593 D RGD:9068941 20200609 RGD PMID:23832011|REF_RGD_ID:11069125 11988633 JAK3 Janus kinase 3 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:737593 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.L156P, p.R172Q, p.E183G (human) PMID:21821710|REF_RGD_ID:11531131 11988633 JAK3 Janus kinase 3 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:2940 D RGD:9068941 20200609 RGD PMID:26860129|REF_RGD_ID:11531126 11988633 JAK3 Janus kinase 3 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:737593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 11988633 JAK3 Janus kinase 3 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma 11988633 JAK3 Janus kinase 3 gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma ISO RGD:737593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22705984|PMID:23689514 11988633 JAK3 Janus kinase 3 gene DOID:0081042 T-cell prolymphocytic leukemia ISO RGD:737593 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:pM511I, p.R657Q (human) PMID:24446122|REF_RGD_ID:11531125 11988633 JAK3 Janus kinase 3 gene DOID:0081267 graft-versus-host disease treatment ISO RGD:10824 D RGD:9068941 20200609 RGD PMID:12010825|REF_RGD_ID:11531124 11988633 JAK3 Janus kinase 3 gene DOID:0081267 graft-versus-host disease treatment ISO RGD:2940 D RGD:9068941 20200609 RGD PMID:11781254|REF_RGD_ID:1600262 11988633 JAK3 Janus kinase 3 gene DOID:0081312 T-cell non-Hodgkin lymphoma treatment ISO RGD:737593 D RGD:9068941 20200609 RGD PMID:24153015|REF_RGD_ID:11531129 11988633 JAK3 Janus kinase 3 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:737593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:11668621|PMID:11741532|PMID:11781709|PMID:14615376|PMID:16199547|PMID:16843266|PMID:17252020|PMID:17433830|PMID:17456055|PMID:17576681|PMID:17644747|PMID:18270328|PMID:18397343|PMID:18845095|PMID:19203666|PMID:19282076|PMID:20132407|PMID:20372971|PMID:20400977|PMID:20417861|PMID:21050946|PMID:21184155|PMID:21228398|PMID:21599579|PMID:21821710|PMID:21868263|PMID:22237106|PMID:22425895|PMID:23384681|PMID:23832011|PMID:24033266|PMID:24139496|PMID:24446122|PMID:24728327|PMID:25146434|PMID:25157968|PMID:25193870|PMID:25333069|PMID:25395141|PMID:25505553|PMID:25595890|PMID:25672756|PMID:25741868|PMID:25815310|PMID:26915675|PMID:27484032|PMID:27577878|PMID:27593409|PMID:28109013|PMID:28492532|PMID:28747913|PMID:28916186|PMID:29375547|PMID:30697212|PMID:31440277|PMID:31589898|PMID:32445296|PMID:33040328|PMID:33365035|PMID:7481768|PMID:7659163|PMID:9354668|PMID:9536098|PMID:9753072 11988633 JAK3 Janus kinase 3 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:737593 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:11668621|PMID:11741532|PMID:11781709|PMID:14615376|PMID:16199547|PMID:16843266|PMID:17252020|PMID:17433830|PMID:17456055|PMID:17576681|PMID:17644747|PMID:18270328|PMID:18397343|PMID:18845095|PMID:19203666|PMID:19282076|PMID:20132407|PMID:20372971|PMID:20400977|PMID:20417861|PMID:21050946|PMID:21184155|PMID:21228398|PMID:21599579|PMID:21821710|PMID:21868263|PMID:22237106|PMID:22425895|PMID:23384681|PMID:23832011|PMID:24033266|PMID:24139496|PMID:24446122|PMID:24728327|PMID:25146434|PMID:25157968|PMID:25193870|PMID:25333069|PMID:25395141|PMID:25505553|PMID:25595890|PMID:25672756|PMID:25741868|PMID:25815310|PMID:28109013|PMID:28492532|PMID:28916186|PMID:29375547|PMID:30697212|PMID:30778343|PMID:31440277|PMID:31589898|PMID:32445296|PMID:33040328|PMID:33365035|PMID:7481768|PMID:7659163|PMID:9354668|PMID:9536098|PMID:9753072 11988633 JAK3 Janus kinase 3 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:737593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:11668621|PMID:11741532|PMID:11781709|PMID:14615376|PMID:16199547|PMID:16843266|PMID:17252020|PMID:17433830|PMID:17456055|PMID:17576681|PMID:17644747|PMID:18270328|PMID:18397343|PMID:18845095|PMID:19203666|PMID:19282076|PMID:20132407|PMID:20372971|PMID:20400977|PMID:20417861|PMID:21050946|PMID:21184155|PMID:21228398|PMID:21599579|PMID:21821710|PMID:21868263|PMID:22237106|PMID:22425895|PMID:23069490|PMID:23384681|PMID:23832011|PMID:24033266|PMID:24139496|PMID:24446122|PMID:24728327|PMID:25146434|PMID:25157968|PMID:25193870|PMID:25333069|PMID:25395141|PMID:25505553|PMID:25595890|PMID:25672756|PMID:25741868|PMID:25815310|PMID:26321643|PMID:26545580|PMID:26769277|PMID:26915675|PMID:27484032|PMID:27577878|PMID:27593409|PMID:28109013|PMID:28492532|PMID:28747913|PMID:28916186|PMID:29049190|PMID:29375547|PMID:30177960|PMID:30697212|PMID:30778343|PMID:31440277|PMID:31589898|PMID:32135276|PMID:32215810|PMID:32445296|PMID:32754152|PMID:33040328|PMID:33365035|PMID:7481768|PMID:7659163|PMID:9354668|PMID:9536098|PMID:9753072 11988633 JAK3 Janus kinase 3 gene DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive ISO RGD:10824 D RGD:9068941 20220825 MouseDO OMIM:608971 11988633 JAK3 Janus kinase 3 gene DOID:14069 cerebral malaria ISO RGD:10824 D RGD:9068941 20200609 RGD PMID:22363534|REF_RGD_ID:11531103 11988633 JAK3 Janus kinase 3 gene DOID:2226 myeloproliferative neoplasm ISO RGD:737593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm PMID:16843266|PMID:20372971|PMID:20385788|PMID:22271575|PMID:25157968 11988633 JAK3 Janus kinase 3 gene DOID:2476 hereditary spastic paraplegia ISO RGD:737593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11988633 JAK3 Janus kinase 3 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:737593 D RGD:9068941 20200609 RGD PMID:25193870|REF_RGD_ID:11531122 11988633 JAK3 Janus kinase 3 gene DOID:5810 adenosine deaminase deficiency ISO RGD:737593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bubble boy disease PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:14615376|PMID:17433830|PMID:17644747|PMID:19203666|PMID:21184155|PMID:23384681|PMID:25146434|PMID:25741868|PMID:28492532|PMID:30697212|PMID:32754152|PMID:33365035|PMID:9354668|PMID:9753072 11988633 JAK3 Janus kinase 3 gene DOID:614 lymphopenia ISO RGD:737593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lymphopenia PMID:25741868|PMID:28492532 11988633 JAK3 Janus kinase 3 gene DOID:627 severe combined immunodeficiency ISO RGD:737593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe Combined Immune Deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:14615376|PMID:17433830|PMID:17644747|PMID:18559588|PMID:19203666|PMID:21184155|PMID:23384681|PMID:25146434|PMID:25741868|PMID:28492532|PMID:30697212|PMID:32754152|PMID:33365035|PMID:9354668|PMID:9753072 11988633 JAK3 Janus kinase 3 gene DOID:627 severe combined immunodeficiency treatment ISO RGD:10824 D RGD:9068941 20200609 RGD PMID:9427607|REF_RGD_ID:11531109 11988633 JAK3 Janus kinase 3 gene DOID:630 genetic disease ISO RGD:737593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11988633 JAK3 Janus kinase 3 gene DOID:707 B-cell lymphoma ISO RGD:737593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24837469 11988633 JAK3 Janus kinase 3 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:737593 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia | ClinVar Annotator: match by term: Acute megakaryocytic leukemia PMID:10982185|PMID:16843266|PMID:18270328|PMID:18397343|PMID:20132407|PMID:20372971|PMID:20385788|PMID:20400977|PMID:21599579|PMID:21821710|PMID:22271575|PMID:24728327|PMID:25157968|PMID:25741868|PMID:28492532 11988633 JAK3 Janus kinase 3 gene DOID:9000197 Edema treatment ISO RGD:10824 D RGD:9068941 20200609 RGD associated with Hypersensitivity, Delayed PMID:25762693|REF_RGD_ID:11533938 11988633 JAK3 Janus kinase 3 gene DOID:9000933 Leukemoid Reaction ISO RGD:737593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukemoid reaction PMID:18397343|PMID:20400977|PMID:28492532 11988633 JAK3 Janus kinase 3 gene DOID:9002211 Hyperalgesia treatment ISO RGD:2940 D RGD:9068941 20200609 RGD PMID:21434883|REF_RGD_ID:11533942 11988633 JAK3 Janus kinase 3 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:10824 D RGD:9068941 20200609 RGD PMID:18234077|REF_RGD_ID:11533944 11988633 JAK3 Janus kinase 3 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2940 D RGD:9068941 20200609 RGD PMID:18234077|PMID:21434883|PMID:25762693|REF_RGD_ID:11533938|REF_RGD_ID:11533942|REF_RGD_ID:11533944 11988633 JAK3 Janus kinase 3 gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features ISO RGD:737593 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: LYMPHOMATOUS ALL PMID:10982185|PMID:16843266|PMID:18270328|PMID:20132407|PMID:20372971|PMID:21599579|PMID:21821710|PMID:24728327|PMID:25157968|PMID:25741868|PMID:28492532 11988633 JAK3 Janus kinase 3 gene DOID:9002669 Hypoxia ISO RGD:2940 D RGD:9068941 20211203 RGD protein:increased expression:lung PMID:14703438|REF_RGD_ID:150527843 11988633 JAK3 Janus kinase 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:2940 D RGD:9068941 20200609 RGD PMID:25012120|REF_RGD_ID:11533939 11988633 JAK3 Janus kinase 3 gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:2940 D RGD:9068941 20200609 RGD PMID:23514809|REF_RGD_ID:11533940 11988633 JAK3 Janus kinase 3 gene DOID:9003214 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative ISO RGD:737593 D RGD:7240710 20180130 OMIM 11988633 JAK3 Janus kinase 3 gene DOID:9003214 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative ISO RGD:737593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:11668621|PMID:11741532|PMID:11781709|PMID:14615376|PMID:16199547|PMID:16843266|PMID:17252020|PMID:17433830|PMID:17456055|PMID:17576681|PMID:17644747|PMID:18270328|PMID:18397343|PMID:18845095|PMID:19203666|PMID:19282076|PMID:20132407|PMID:20372971|PMID:20400977|PMID:20417861|PMID:21050946|PMID:21184155|PMID:21228398|PMID:21599579|PMID:21821710|PMID:21868263|PMID:22237106|PMID:22425895|PMID:23069490|PMID:23384681|PMID:23832011|PMID:24033266|PMID:24139496|PMID:24446122|PMID:24728327|PMID:25146434|PMID:25157968|PMID:25193870|PMID:25333069|PMID:25395141|PMID:25505553|PMID:25595890|PMID:25672756|PMID:25741868|PMID:25815310|PMID:26321643|PMID:26545580|PMID:26769277|PMID:26915675|PMID:27484032|PMID:27577878|PMID:27593409|PMID:28109013|PMID:28492532|PMID:28747913|PMID:28916186|PMID:29049190|PMID:29375547|PMID:30177960|PMID:30697212|PMID:30778343|PMID:31440277|PMID:31589898|PMID:32135276|PMID:32215810|PMID:32445296|PMID:32754152|PMID:33040328|PMID:33365035|PMID:7481768|PMID:7659163|PMID:9354668|PMID:9536098|PMID:9753072 11988633 JAK3 Janus kinase 3 gene DOID:9004610 Acute Lung Injury ISO RGD:10824 D RGD:9068941 20200609 RGD PMID:22359619|REF_RGD_ID:11531100 11988633 JAK3 Janus kinase 3 gene DOID:9005603 Muscle Hypotonia ISO RGD:737593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:25741868|PMID:28492532 11988633 JAK3 Janus kinase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2940 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:21575160|REF_RGD_ID:11533943 11988633 JAK3 Janus kinase 3 gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:737593 D RGD:9068941 20201218 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:26541527|REF_RGD_ID:40902860 11988633 JAK3 Janus kinase 3 gene DOID:9007138 Cd4+ Lymphocyte Deficiency ISO RGD:737593 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.C1066R (c.3196T>C) (human) PMID:25205547|REF_RGD_ID:11531127 11988633 JAK3 Janus kinase 3 gene DOID:9007647 Trichiasis ISO RGD:737593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Trichiasis PMID:25741868|PMID:28492532 11988633 JAK3 Janus kinase 3 gene DOID:9008299 Mediastinal Neoplasms ISO RGD:737593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24837469 11988633 JAK3 Janus kinase 3 gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:737593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 11988633 JAK3 Janus kinase 3 gene DOID:9008386 Hydrops Fetalis ISO RGD:737593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal edema PMID:25741868|PMID:28492532 11988633 JAK3 Janus kinase 3 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:737593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11988662 CREG1 cellular repressor of E1A stimulated genes 1 gene DOID:0080600 COVID-19 ISO RGD:1348156 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11988662 CREG1 cellular repressor of E1A stimulated genes 1 gene DOID:0111942 immunodeficiency 25 ISO RGD:1348156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 11988662 CREG1 cellular repressor of E1A stimulated genes 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1348156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11988662 CREG1 cellular repressor of E1A stimulated genes 1 gene DOID:630 genetic disease ISO RGD:1348156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11988662 CREG1 cellular repressor of E1A stimulated genes 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11988662 CREG1 cellular repressor of E1A stimulated genes 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11988662 CREG1 cellular repressor of E1A stimulated genes 1 gene DOID:9775 diastolic heart failure ISO RGD:1348156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 11988670 LOC100974207 eyes shut homolog gene DOID:0050817 Stargardt disease ISO RGD:1343004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:17576681|PMID:23591405|PMID:25133751|PMID:28492532|PMID:30718709|PMID:9536098 11988670 LOC100974207 eyes shut homolog gene DOID:0110384 retinitis pigmentosa 25 ISO RGD:1343004 D RGD:7240710 20180130 OMIM 11988670 LOC100974207 eyes shut homolog gene DOID:0110384 retinitis pigmentosa 25 ISO RGD:1343004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 25 PMID:16199547|PMID:17011488|PMID:17156103|PMID:17576681|PMID:18836446|PMID:18976725|PMID:18976726|PMID:20237254|PMID:2033377|PMID:20333770|PMID:20333771|PMID:20375346|PMID:20537394|PMID:21069908|PMID:21179430|PMID:21217109|PMID:21519034|PMID:22164218|PMID:22302105|PMID:22334370|PMID:22363543|PMID:22581970|PMID:23105016|PMID:23421333|PMID:23591405|PMID:23757202|PMID:24033266|PMID:24265693|PMID:24474277|PMID:24618324|PMID:24652164|PMID:24670872|PMID:24938718|PMID:25096270|PMID:25097241|PMID:25133751|PMID:25268133|PMID:25324289|PMID:25356976|PMID:25366773|PMID:25412400|PMID:25491159|PMID:25692139|PMID:25741868|PMID:25753737|PMID:26103963|PMID:26155838|PMID:26161267|PMID:26261414|PMID:26593283|PMID:26667666|PMID:26787102|PMID:26806561|PMID:26872967|PMID:27208204|PMID:27353947|PMID:27375351|PMID:27658286|PMID:27735924|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28704921|PMID:28763560|PMID:28838317|PMID:29074561|PMID:29159838|PMID:29550188|PMID:29625443|PMID:29641573|PMID:29785639|PMID:30153090|PMID:30337596|PMID:30487145|PMID:30513137|PMID:30543658|PMID:30718709|PMID:30804660|PMID:30902645|PMID:31054281|PMID:31074760|PMID:31106028|PMID:31144483|PMID:31213501|PMID:31456290|PMID:31725169|PMID:31814702|PMID:31872526|PMID:31960602|PMID:32036094|PMID:32037395|PMID:32218477|PMID:32531858|PMID:32581362|PMID:32675063|PMID:32728228|PMID:33090715|PMID:33247286|PMID:33576794|PMID:34178978|PMID:9536098|PMID:9585594 11988670 LOC100974207 eyes shut homolog gene DOID:10584 retinitis pigmentosa ISO RGD:1343004 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:17156103|PMID:17576681|PMID:18836446|PMID:18976725|PMID:18976726|PMID:20237254|PMID:2033377|PMID:20333770|PMID:20333771|PMID:20375346|PMID:20537394|PMID:21069908|PMID:21179430|PMID:21217109|PMID:21519034|PMID:22164218|PMID:22277662|PMID:22302105|PMID:22334370|PMID:22363543|PMID:22581970|PMID:23105016|PMID:23421333|PMID:23591405|PMID:24033266|PMID:24265693|PMID:24474277|PMID:24618324|PMID:24652164|PMID:24670872|PMID:24938718|PMID:25096270|PMID:25097241|PMID:25133751|PMID:25268133|PMID:25324289|PMID:25356976|PMID:25366773|PMID:25412400|PMID:25491159|PMID:25692139|PMID:25741868|PMID:25753737|PMID:26103963|PMID:26155838|PMID:26161267|PMID:26261414|PMID:26355662|PMID:26593283|PMID:26667666|PMID:26787102|PMID:26806561|PMID:26872967|PMID:27208204|PMID:27375351|PMID:27658286|PMID:27735924|PMID:28041643|PMID:28224992|PMID:28418496|PMID:28419563|PMID:28492532|PMID:28704921|PMID:28763560|PMID:28838317|PMID:29074561|PMID:29159838|PMID:29550188|PMID:29625443|PMID:29641573|PMID:29785639|PMID:30153090|PMID:30337596|PMID:30487145|PMID:30513137|PMID:30543658|PMID:30718709|PMID:30804660|PMID:31054281|PMID:31074760|PMID:31106028|PMID:31213501|PMID:31456290|PMID:31725169|PMID:31814702|PMID:31872526|PMID:31960602|PMID:32000842|PMID:32037395|PMID:32218477|PMID:32531858|PMID:32581362|PMID:32675063|PMID:32728228|PMID:33090715|PMID:33247286|PMID:33576794|PMID:33691693|PMID:33749171|PMID:34178978|PMID:9536098|PMID:9585594 11988670 LOC100974207 eyes shut homolog gene DOID:11782 astigmatism ISO RGD:1343004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astigmatism PMID:25741868 11988670 LOC100974207 eyes shut homolog gene DOID:4448 macular degeneration ISO RGD:1343004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:20237254|PMID:21069908|PMID:23105016|PMID:25097241|PMID:25741868|PMID:28492532|PMID:30153090|PMID:30718709|PMID:31074760|PMID:32728228 11988670 LOC100974207 eyes shut homolog gene DOID:5327 retinal detachment ISO RGD:1343004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal detachment PMID:25741868 11988670 LOC100974207 eyes shut homolog gene DOID:630 genetic disease ISO RGD:1343004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11988670 LOC100974207 eyes shut homolog gene DOID:8501 fundus dystrophy ISO RGD:1343004 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:17576681|PMID:18836446|PMID:18976725|PMID:18976726|PMID:20237254|PMID:20333770|PMID:20537394|PMID:21069908|PMID:21217109|PMID:21519034|PMID:22164218|PMID:22302105|PMID:22363543|PMID:22581970|PMID:23105016|PMID:23591405|PMID:23757202|PMID:24033266|PMID:24265693|PMID:24474277|PMID:24618324|PMID:24652164|PMID:24670872|PMID:24938718|PMID:25097241|PMID:25268133|PMID:25324289|PMID:25356976|PMID:25366773|PMID:25412400|PMID:25491159|PMID:25692139|PMID:25741868|PMID:25753737|PMID:26103963|PMID:26161267|PMID:26261414|PMID:26667666|PMID:26806561|PMID:26872967|PMID:27208204|PMID:27353947|PMID:27375351|PMID:27658286|PMID:28041643|PMID:28418496|PMID:28492532|PMID:28559085|PMID:28704921|PMID:28838317|PMID:29159838|PMID:29550188|PMID:29625443|PMID:29785639|PMID:30153090|PMID:30337596|PMID:30487145|PMID:30718709|PMID:31054281|PMID:31074760|PMID:31213501|PMID:31456290|PMID:31725169|PMID:31872526|PMID:32036094|PMID:32037395|PMID:32218477|PMID:32531858|PMID:32728228|PMID:33749171|PMID:9536098 11988670 LOC100974207 eyes shut homolog gene DOID:9000343 Vision Disorders ISO RGD:1343004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:25741868 11988670 LOC100974207 eyes shut homolog gene DOID:9008296 Eye Abnormalities ISO RGD:1343004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:16199547|PMID:18836446|PMID:20333770|PMID:25741868|PMID:28492532|PMID:29785639|PMID:33576794 11988670 LOC100974207 eyes shut homolog gene DOID:980 choroidal sclerosis ISO RGD:1343004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Central areolar choroidal dystrophy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11988693 VWA5B2 von Willebrand factor A domain containing 5B2 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:2300034 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11988693 VWA5B2 von Willebrand factor A domain containing 5B2 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:2300034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11988693 VWA5B2 von Willebrand factor A domain containing 5B2 gene DOID:0111546 Currarino syndrome ISO RGD:2300034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11988693 VWA5B2 von Willebrand factor A domain containing 5B2 gene DOID:630 genetic disease ISO RGD:2300034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11988758 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:732865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28220687 11988758 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:10603 glucose intolerance ISO RGD:732865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19934007 11988758 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:12858 Huntington's disease ISO RGD:1550489 D RGD:9068941 20200609 RGD protein:increased phosphorylation, altered localization:nucleus PMID:21768291|REF_RGD_ID:6484534 11988758 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:12858 Huntington's disease ISO RGD:732865 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:21768291|REF_RGD_ID:6484534 11988758 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:13580 cholestasis treatment ISO RGD:3387 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:27090119|REF_RGD_ID:15090804 11988758 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:13938 amenorrhea ISO RGD:732865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11988758 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:1612 breast cancer ISO RGD:732865 D RGD:9068941 20200609 RGD DNA:SNP: :rs10074991 (human) PMID:22562547|REF_RGD_ID:6484541 11988758 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:219 colon cancer ISO RGD:732865 D RGD:9068941 20200609 RGD PMID:20622004|REF_RGD_ID:5685669 11988758 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732865 D RGD:9068941 20210903 RGD human cells in mouse model PMID:23632475|REF_RGD_ID:150404268 11988758 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:630 genetic disease ISO RGD:732865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11988758 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:732865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098866 11988758 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9002661 Diabetes Complications ISO RGD:3387 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21548839|REF_RGD_ID:6484542 11988758 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis severity ISO RGD:1550489 D RGD:9068941 20200609 RGD PMID:19486896|REF_RGD_ID:6484540 11988758 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11988758 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9004610 Acute Lung Injury ISO RGD:1550489 D RGD:9068941 20200609 RGD PMID:21595935|REF_RGD_ID:6484539 11988758 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9005930 Endotoxemia ISO RGD:1550489 D RGD:9068941 20200609 RGD mRNA:decreased expression:epididymal fat pad PMID:20421294|REF_RGD_ID:6484543 11988758 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:1550489 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 11988758 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:3387 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 11988758 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9007692 Insulin Resistance ISO RGD:3387 D RGD:9068941 20200609 RGD associated with Obesity PMID:22231922|REF_RGD_ID:6484545 11988758 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9007692 Insulin Resistance ISO RGD:732865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19934007 11988758 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9008114 Helicobacter Infections ISO RGD:732865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28220687 11988758 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3387 D RGD:9068941 20200609 RGD PMID:20054491|REF_RGD_ID:2316808 11988758 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9452 fatty liver disease ISO RGD:1550489 D RGD:9068941 20200609 RGD PMID:19162361|REF_RGD_ID:6484544 11988774 MRPL37 mitochondrial ribosomal protein L37 gene DOID:0080600 COVID-19 ISO RGD:1348769 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11988774 MRPL37 mitochondrial ribosomal protein L37 gene DOID:630 genetic disease ISO RGD:1348769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11988786 MALL mal, T cell differentiation protein like gene DOID:0050795 cone dystrophy ISO RGD:1342796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:28041643 11988786 MALL mal, T cell differentiation protein like gene DOID:0060041 autism spectrum disorder ISO RGD:1342796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:24807792|PMID:25255310 11988786 MALL mal, T cell differentiation protein like gene DOID:0110999 Joubert syndrome 4 ISO RGD:1342796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 4 PMID:25741868 11988786 MALL mal, T cell differentiation protein like gene DOID:0111112 nephronophthisis 1 ISO RGD:1342796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis 1 PMID:10839884|PMID:10980528 11988786 MALL mal, T cell differentiation protein like gene DOID:12712 nephronophthisis ISO RGD:1342796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:10620543|PMID:10839884|PMID:15138899|PMID:24746959|PMID:28492532|PMID:8852662 11988786 MALL mal, T cell differentiation protein like gene DOID:630 genetic disease ISO RGD:1342796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11988794 MICU2 mitochondrial calcium uptake 2 gene DOID:630 genetic disease ISO RGD:1353196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11988810 TMEM273 transmembrane protein 273 gene DOID:11372 megacolon ISO RGD:1344407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11988810 TMEM273 transmembrane protein 273 gene DOID:5419 schizophrenia ISO RGD:1344407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11988811 POLR1H RNA polymerase I subunit H gene DOID:11372 megacolon ISO RGD:1351679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11988811 POLR1H RNA polymerase I subunit H gene DOID:9000217 Stomach Neoplasms ISO RGD:1351679 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16609701 11988811 POLR1H RNA polymerase I subunit H gene DOID:9002170 Experimental Neoplasms ISO RGD:1351679 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16609701 11988831 PTPRO protein tyrosine phosphatase receptor type O gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:731757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 11988831 PTPRO protein tyrosine phosphatase receptor type O gene DOID:0080384 nephrotic syndrome type 6 ISO RGD:731757 D RGD:7240710 20180130 OMIM 11988831 PTPRO protein tyrosine phosphatase receptor type O gene DOID:0080384 nephrotic syndrome type 6 ISO RGD:731757 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 6 PMID:21722858|PMID:25741868|PMID:28492532 11988831 PTPRO protein tyrosine phosphatase receptor type O gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:731757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 11988831 PTPRO protein tyrosine phosphatase receptor type O gene DOID:0080600 COVID-19 ISO RGD:731757 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11988831 PTPRO protein tyrosine phosphatase receptor type O gene DOID:1909 melanoma ISO RGD:731757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 11988831 PTPRO protein tyrosine phosphatase receptor type O gene DOID:630 genetic disease ISO RGD:731757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11988831 PTPRO protein tyrosine phosphatase receptor type O gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11988831 PTPRO protein tyrosine phosphatase receptor type O gene DOID:9007188 Liver Neoplasms ISO RGD:731757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941|PMID:20163174 11988866 CTSO cathepsin O gene DOID:630 genetic disease ISO RGD:1343138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11988878 PABIR3 PABIR family member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605854 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11988878 PABIR3 PABIR family member 3 gene DOID:12849 autistic disorder ISO RGD:1605854 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11988878 PABIR3 PABIR family member 3 gene DOID:630 genetic disease ISO RGD:1605854 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11988917 FAM3A FAM3 metabolism regulating signaling molecule A gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1349782 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11988917 FAM3A FAM3 metabolism regulating signaling molecule A gene DOID:0050476 Barth syndrome ISO RGD:1349782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11988917 FAM3A FAM3 metabolism regulating signaling molecule A gene DOID:0050800 creatine transporter deficiency ISO RGD:1349782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11988917 FAM3A FAM3 metabolism regulating signaling molecule A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11988917 FAM3A FAM3 metabolism regulating signaling molecule A gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 11988917 FAM3A FAM3 metabolism regulating signaling molecule A gene DOID:0112003 immunodeficiency 33 ISO RGD:1349782 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11988917 FAM3A FAM3 metabolism regulating signaling molecule A gene DOID:10588 adrenoleukodystrophy ISO RGD:1349782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11988917 FAM3A FAM3 metabolism regulating signaling molecule A gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11988917 FAM3A FAM3 metabolism regulating signaling molecule A gene DOID:12849 autistic disorder ISO RGD:1349782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11988917 FAM3A FAM3 metabolism regulating signaling molecule A gene DOID:13628 favism ISO RGD:1349782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11988917 FAM3A FAM3 metabolism regulating signaling molecule A gene DOID:2729 dyskeratosis congenita ISO RGD:1349782 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11988917 FAM3A FAM3 metabolism regulating signaling molecule A gene DOID:607 paraplegia ISO RGD:1349782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11988917 FAM3A FAM3 metabolism regulating signaling molecule A gene DOID:630 genetic disease ISO RGD:1349782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11988917 FAM3A FAM3 metabolism regulating signaling molecule A gene DOID:9002720 Splenomegaly ISO RGD:1349782 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:1314945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Regional enteritis PMID:11385576|PMID:11385577|PMID:11425413|PMID:11910337|PMID:12019468|PMID:12512038|PMID:12650796|PMID:12673278|PMID:12704363|PMID:15002819|PMID:15024686|PMID:15190267|PMID:15198989|PMID:15571588|PMID:16010583|PMID:16416181|PMID:16669960|PMID:17301648|PMID:17489054|PMID:18240302|PMID:18489434|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20047977|PMID:20332463|PMID:20713205|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22939045|PMID:23128233|PMID:23173613|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24047397|PMID:24345423|PMID:24586700|PMID:24597572|PMID:25365249|PMID:25741868|PMID:26042516|PMID:26167078|PMID:26500656|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:32597225|PMID:32716958 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:0050678 Blau syndrome ISO RGD:1314945 D RGD:7240710 20180130 OMIM 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:0050678 Blau syndrome ISO RGD:1314945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: Jabs syndrome PMID:11385576|PMID:11385577|PMID:11425413|PMID:11528384|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12115249|PMID:12202985|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12626759|PMID:12630966|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14508222|PMID:14522785|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15086578|PMID:15190267|PMID:15198989|PMID:15320482|PMID:15459013|PMID:15554080|PMID:15571588|PMID:15712650|PMID:15770725|PMID:15812565|PMID:15967635|PMID:15998797|PMID:16010583|PMID:16199547|PMID:16278823|PMID:16416181|PMID:16485124|PMID:16669960|PMID:16804397|PMID:17009307|PMID:17069729|PMID:17157607|PMID:17207093|PMID:17301648|PMID:17372104|PMID:17393391|PMID:17489054|PMID:17576681|PMID:17916199|PMID:17941079|PMID:17968944|PMID:18056399|PMID:18240302|PMID:18419343|PMID:18489434|PMID:18507017|PMID:18541930|PMID:18718560|PMID:18942754|PMID:18955195|PMID:19103559|PMID:19116920|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19479836|PMID:19479837|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20032092|PMID:20039400|PMID:20047977|PMID:20084402|PMID:20199415|PMID:20230816|PMID:20332463|PMID:20565245|PMID:20713205|PMID:20959815|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22377804|PMID:22440928|PMID:22509093|PMID:22543157|PMID:22684479|PMID:22859352|PMID:22926499|PMID:22939045|PMID:22942351|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23334666|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24033266|PMID:24047397|PMID:24345423|PMID:24391456|PMID:24583628|PMID:24586700|PMID:24595243|PMID:24597572|PMID:24713464|PMID:24803813|PMID:24876985|PMID:25093298|PMID:25136265|PMID:25209167|PMID:25365249|PMID:25416713|PMID:25429073|PMID:25619344|PMID:25741868|PMID:25829188|PMID:26042516|PMID:26070941|PMID:26164256|PMID:26167078|PMID:26316104|PMID:26500656|PMID:26606664|PMID:26768519|PMID:26774591|PMID:27306066|PMID:27339507|PMID:27373512|PMID:27419275|PMID:27625029|PMID:28008999|PMID:28130683|PMID:28166811|PMID:28422189|PMID:28492532|PMID:28639104|PMID:28658209|PMID:28721627|PMID:28750667|PMID:28814775|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29697845|PMID:29795570|PMID:29867916|PMID:30159790|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:30574935|PMID:30693132|PMID:30783801|PMID:32597225|PMID:32647028|PMID:32707200|PMID:32716958|PMID:33692434|PMID:34251956|PMID:7825454|PMID:9124059|PMID:9536098 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:0050678 Blau syndrome susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:snp:cds:p.E383G (human) PMID:19116920|REF_RGD_ID:8158051 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:0050678 Blau syndrome susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:snp:cds:p.E383K (human) PMID:15812565|REF_RGD_ID:8547515 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:0050678 Blau syndrome susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human) PMID:11528384|REF_RGD_ID:8158040 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:0050678 Blau syndrome susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human) PMID:19479837|REF_RGD_ID:8547518 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1314945 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs3135499) C>A (human) PMID:27354594|REF_RGD_ID:152177496 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:0050922 gastrointestinal carcinoma ISO RGD:1314945 D RGD:9068941 20200609 RGD associated with Helicobacter Infections;DNA:SNP: :c.802C>T (human) PMID:20230816|REF_RGD_ID:5508759 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:0060180 colitis ISO RGD:1306368 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:16891783|REF_RGD_ID:1600781 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:0060180 colitis ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:20921147|PMID:21471573|REF_RGD_ID:5508727|REF_RGD_ID:5508755 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:0080176 meningococcal meningitis susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :SNP8(human) PMID:23691182|REF_RGD_ID:7800668 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:0081267 graft-versus-host disease severity ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:snps, insertion:exons:p.R675W, p.G1881R, c.2936_2937insC (human) PMID:15090455|REF_RGD_ID:8158050 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:0110892 inflammatory bowel disease 1 ISO RGD:1314945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 PMID:11385576|PMID:11385577|PMID:11425413|PMID:11528384|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12115249|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12626759|PMID:12630966|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14508222|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15190267|PMID:15198989|PMID:15320482|PMID:15459013|PMID:15571588|PMID:15712650|PMID:15770725|PMID:15967635|PMID:16010583|PMID:16199547|PMID:16278823|PMID:16416181|PMID:16485124|PMID:16669960|PMID:16804397|PMID:17301648|PMID:17489054|PMID:18056399|PMID:18240302|PMID:18419343|PMID:18489434|PMID:18507017|PMID:18541930|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20032092|PMID:20047977|PMID:20230816|PMID:20332463|PMID:20713205|PMID:20959815|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22926499|PMID:22939045|PMID:22942351|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24033266|PMID:24047397|PMID:24345423|PMID:24391456|PMID:24583628|PMID:24586700|PMID:24597572|PMID:24803813|PMID:25365249|PMID:25741868|PMID:26042516|PMID:26070941|PMID:26164256|PMID:26167078|PMID:26316104|PMID:26500656|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:28814775|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:32597225|PMID:32716958 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:0111122 nephronophthisis 14 ISO RGD:1314945 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:1024 leprosy ISO RGD:1314945 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:104 bacterial infectious disease ISO RGD:1314946 D RGD:9068941 20200609 RGD associated with Virus Diseases PMID:21669398|REF_RGD_ID:5508748 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:10457 Legionnaires' disease ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:20685341|REF_RGD_ID:5131443 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:11729 Lyme disease ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:21387014|REF_RGD_ID:5508754 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:12583 velocardiofacial syndrome ISO RGD:1314945 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:13141 uveitis ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:21296813|REF_RGD_ID:5508729 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:1324 lung cancer susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:insertion: : 3020_3021insC (human) PMID:16267612|REF_RGD_ID:5131514 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:13241 Behcet's disease ISO RGD:1314945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Behcet disease PMID:28492532 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:13241 Behcet's disease no_association ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human) PMID:15515785|REF_RGD_ID:13204711 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:13241 Behcet's disease susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:snp, insertion:exons:p.R702W, p.L1007insC (human) PMID:19748964|REF_RGD_ID:8158059 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:13406 pulmonary sarcoidosis disease_progression ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:2104C>T (human) PMID:19679608|REF_RGD_ID:4892066 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:1612 breast cancer susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:insertion: : 3020_3021insC (human) PMID:16267612|REF_RGD_ID:5131514 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:1936 atherosclerosis ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:24324141|REF_RGD_ID:8158039 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:224 transient cerebral ischemia ISO RGD:1314946 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:20863826|REF_RGD_ID:5508733 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:2280 hidradenitis suppurativa ISO RGD:1314945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:2378 relapsing-remitting multiple sclerosis disease_progression ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:SNPs: :rs3135499,rs2066842(human) PMID:20595247|REF_RGD_ID:13204725 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:2394 ovarian cancer ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:insertion:Cds: 3020_3021insC (human) PMID:20223031|REF_RGD_ID:5131515 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:2596 larynx cancer onset ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:insertion:Cds: 3020_3021insC (human) PMID:20223031|REF_RGD_ID:5131515 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:2723 dermatitis ISO RGD:1314945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19467619 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:2799 bronchiolitis obliterans ISO RGD:1314945 D RGD:9068941 20200609 RGD PMID:18158963|REF_RGD_ID:5131450 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:2841 asthma ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:21051079|REF_RGD_ID:5508757 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:2841 asthma susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:polymorphisms:intron, exon/3'UTR (rs1077861, rs3135500) (human) PMID:16008671|REF_RGD_ID:5131477 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1314945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:11385576|PMID:11385577|PMID:11425413|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12115249|PMID:12202985|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12626759|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14508222|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15190267|PMID:15198989|PMID:15320482|PMID:15571588|PMID:15712650|PMID:15770725|PMID:15967635|PMID:16010583|PMID:16199547|PMID:16278823|PMID:16416181|PMID:16485124|PMID:16669960|PMID:17301648|PMID:17489054|PMID:17576681|PMID:18240302|PMID:18419343|PMID:18489434|PMID:18507017|PMID:18541930|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20032092|PMID:20047977|PMID:20230816|PMID:20332463|PMID:20713205|PMID:20959815|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22859352|PMID:22939045|PMID:22942351|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24033266|PMID:24047397|PMID:24345423|PMID:24391456|PMID:24583628|PMID:24586700|PMID:24597572|PMID:24803813|PMID:25093298|PMID:25209167|PMID:25365249|PMID:25416713|PMID:25741868|PMID:26042516|PMID:26070941|PMID:26164256|PMID:26167078|PMID:26316104|PMID:26500656|PMID:26774591|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28166811|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:28814775|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30159790|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:32597225|PMID:32716958|PMID:9536098 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:SNPs:CDs:p.P268S, R702W, A725G (human) PMID:18419343|REF_RGD_ID:5131510 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:2987 familial Mediterranean fever severity ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human) PMID:22244368|REF_RGD_ID:13204709 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs1077861) (human) PMID:21943069|REF_RGD_ID:5508720 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:3393 coronary artery disease ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.G908R, 3020_3021insC (human) PMID:21565239|REF_RGD_ID:5508725 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1306368 D RGD:9068941 20200609 RGD PMID:24842554|REF_RGD_ID:13204729 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:4029 gastritis ISO RGD:1314945 D RGD:9068941 20200609 RGD associated with Helicobacter Infections;DNA:SNP: :c.802C>T (human) PMID:20230816|REF_RGD_ID:5508759 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:417 autoimmune disease ISO RGD:1314945 D RGD:9068941 20200609 RGD associated with Common Variable Immunodeficiency;DNA:missense mutation: :p.G908R (human) PMID:20646002|REF_RGD_ID:5508739 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:4481 allergic rhinitis ISO RGD:1314945 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal mucosa (human) PMID:23858718|REF_RGD_ID:8547523 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:4483 rhinitis susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:2104C>T,2722G>C (human) PMID:12704363|REF_RGD_ID:5131484 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:4989 pancreatitis ISO RGD:1306368 D RGD:9068941 20200609 RGD protein, mRNA:decreased expression:pancreas, blood cells PMID:20442679|REF_RGD_ID:5131438 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:5295 intestinal disease ISO RGD:1314945 D RGD:9068941 20200609 RGD associated with Common Variable Immunodeficiency;DNA:missense mutation: :p.G908R (human) PMID:20646002|REF_RGD_ID:5508739 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:630 genetic disease ISO RGD:1314945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:19479836|PMID:25741868|PMID:28492532 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:6543 acne ISO RGD:1314945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:8553 pyoderma gangrenosum ISO RGD:1314945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:8577 ulcerative colitis ISO RGD:1314945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20452301 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:20580721|REF_RGD_ID:8547529 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:874 bacterial pneumonia ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:19360122|REF_RGD_ID:5131449 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:8778 Crohn's disease ISO RGD:1314945 D RGD:7240710 20180523 OMIM 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:8778 Crohn's disease ISO RGD:1314945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Crohn disease | ClinVar Annotator: match by term: Inflammatory bowel disease 1 PMID:11385576|PMID:11385577|PMID:11425413|PMID:11528384|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12115249|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12626759|PMID:12630966|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14508222|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15190267|PMID:15198989|PMID:15320482|PMID:15459013|PMID:15571588|PMID:15712650|PMID:15770725|PMID:15967635|PMID:16010583|PMID:16199547|PMID:16278823|PMID:16416181|PMID:16485124|PMID:16669960|PMID:16804397|PMID:17301648|PMID:17489054|PMID:18056399|PMID:18240302|PMID:18419343|PMID:18489434|PMID:18507017|PMID:18541930|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20032092|PMID:20047977|PMID:20230816|PMID:20332463|PMID:20713205|PMID:20959815|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22926499|PMID:22939045|PMID:22942351|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23334666|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24033266|PMID:24047397|PMID:24345423|PMID:24391456|PMID:24583628|PMID:24586700|PMID:24597572|PMID:24803813|PMID:25365249|PMID:25741868|PMID:26042516|PMID:26070941|PMID:26164256|PMID:26167078|PMID:26316104|PMID:26500656|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:28814775|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:32597225|PMID:32716958 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:8778 Crohn's disease no_association ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:missense mutations, frameshift mutation: :p.R702W, p.G908R, 3020_3021insC (human) PMID:21155887|REF_RGD_ID:5508730 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:8778 Crohn's disease susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:frameshift mutation, missense mutations PMID:11385576|REF_RGD_ID:1600778 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9000099 Experimental Colitis ISO RGD:1306368 D RGD:9068941 20200609 RGD protein:increased expression:colonic mucosa: PMID:22997830|REF_RGD_ID:13204727 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:1314946 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:25443778|REF_RGD_ID:9831197 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9000156 Metaplasia ISO RGD:1314945 D RGD:9068941 20200609 RGD associated with Helicobacter Infections;DNA:SNP: :c.802C>T (human) PMID:20230816|REF_RGD_ID:5508759 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:20493961|REF_RGD_ID:5131444 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9002019 Granuloma ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:20679225|REF_RGD_ID:5508736 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9002457 Experimental Arthritis ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:20131263|PMID:21424514|REF_RGD_ID:5508728|REF_RGD_ID:8552884 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9002720 Splenomegaly susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD associated with Common Variable Immunodeficiency;DNA:missense mutation:cds:p.R702W (rs2066844) (human) PMID:20646002|REF_RGD_ID:5508739 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:insertion:Cds: 3020_3021insC (human) PMID:20223031|REF_RGD_ID:5131515 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9004009 Reperfusion Injury ISO RGD:1306368 D RGD:9068941 20200609 RGD protein:increased expression:small intestine PMID:20107953|REF_RGD_ID:5131440 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9004484 Sepsis ISO RGD:1306368 D RGD:9068941 20200609 RGD mRNA:increased expression:intestine mucosa (rat) PMID:24059417|REF_RGD_ID:8547531 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9004484 Sepsis susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:missense mutations, frameshift mutation:cds:p.R702W, p.G908R, 3020_3021insC (human) PMID:21460759|REF_RGD_ID:5508752 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9004527 YAO SYNDROME ISO RGD:1314945 D RGD:7240710 20210127 OMIM 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9004527 YAO SYNDROME ISO RGD:1314945 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Yao syndrome PMID:11385576|PMID:11385577|PMID:11425413|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15190267|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:16010583|PMID:16416181|PMID:16669960|PMID:17301648|PMID:17489054|PMID:18240302|PMID:18489434|PMID:18541930|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20047977|PMID:20332463|PMID:20713205|PMID:20959815|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22939045|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24033266|PMID:24047397|PMID:24345423|PMID:24586700|PMID:24597572|PMID:25365249|PMID:25741868|PMID:26042516|PMID:26070941|PMID:26167078|PMID:26500656|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:32597225|PMID:32716958 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1306368 D RGD:9068941 20200609 RGD associated with Sepsis PMID:22575870|REF_RGD_ID:8547530 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9004945 Ocular Toxoplasmosis susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:snp:3' utr:g.*397A>C (rs3135499)(human) PMID:23100559|REF_RGD_ID:8547527 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9005036 Bacteremia severity ISO RGD:1314945 D RGD:9068941 20200609 RGD associated with Staphylococcal Infections; PMID:24086711|REF_RGD_ID:13204726 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9007906 PFAPA Syndrome ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:mutations:cds PMID:21914217|REF_RGD_ID:13204855 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9008103 Seasonal Allergic Rhinitis susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:polymorphisms:5'UTR/exon, exon:rs5743266, rs2066842 (human) PMID:16008671|REF_RGD_ID:5131477 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:1314945 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:21886831|REF_RGD_ID:5508746 11988958 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.G908R (rs2066845)(human) PMID:16642031|REF_RGD_ID:13204710 11988977 GNA14 G protein subunit alpha 14 gene DOID:0050766 choreaacanthocytosis ISO RGD:1317712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chorea-acanthocytosis PMID:15918062 11988977 GNA14 G protein subunit alpha 14 gene DOID:0080075 Neu-Laxova syndrome 2 ISO RGD:1317712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neu-Laxova syndrome 2 PMID:17436247|PMID:25152457|PMID:28492532 11988977 GNA14 G protein subunit alpha 14 gene DOID:630 genetic disease ISO RGD:1317712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11988977 GNA14 G protein subunit alpha 14 gene DOID:9001384 Kaposiform Hemangioendothelioma ISO RGD:1317712 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Kaposiform hemangioendothelioma PMID:25741868|PMID:27476652 11988977 GNA14 G protein subunit alpha 14 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11988977 GNA14 G protein subunit alpha 14 gene DOID:9002189 High Myopia ISO RGD:1317712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11988988 CFAP74 cilia and flagella associated protein 74 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11988988 CFAP74 cilia and flagella associated protein 74 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11988988 CFAP74 cilia and flagella associated protein 74 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1604563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11988988 CFAP74 cilia and flagella associated protein 74 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1604563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11988988 CFAP74 cilia and flagella associated protein 74 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1604563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11988988 CFAP74 cilia and flagella associated protein 74 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1604563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11988988 CFAP74 cilia and flagella associated protein 74 gene DOID:0111934 immunodeficiency 38 ISO RGD:1604563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11988988 CFAP74 cilia and flagella associated protein 74 gene DOID:0111935 immunodeficiency 16 ISO RGD:1604563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11988988 CFAP74 cilia and flagella associated protein 74 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11988988 CFAP74 cilia and flagella associated protein 74 gene DOID:630 genetic disease ISO RGD:1604563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11988988 CFAP74 cilia and flagella associated protein 74 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11988988 CFAP74 cilia and flagella associated protein 74 gene DOID:9005405 Primary Ciliary Dyskinesia 49 ISO RGD:1604563 D RGD:7240710 20230201 OMIM 11988988 CFAP74 cilia and flagella associated protein 74 gene DOID:9005405 Primary Ciliary Dyskinesia 49 ISO RGD:1604563 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 49, without situs inversus PMID:32555313|PMID:36047773 11988988 CFAP74 cilia and flagella associated protein 74 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1604563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11988988 CFAP74 cilia and flagella associated protein 74 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1604563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11989034 YDJC YdjC chitooligosaccharide deacetylase homolog gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1604990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 11989034 YDJC YdjC chitooligosaccharide deacetylase homolog gene DOID:11198 DiGeorge syndrome ISO RGD:1604990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 11989034 YDJC YdjC chitooligosaccharide deacetylase homolog gene DOID:630 genetic disease ISO RGD:1604990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11989045 EDEM3 ER degradation enhancing alpha-mannosidase like protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1353394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11989045 EDEM3 ER degradation enhancing alpha-mannosidase like protein 3 gene DOID:630 genetic disease ISO RGD:1353394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11989045 EDEM3 ER degradation enhancing alpha-mannosidase like protein 3 gene DOID:9005531 Congenital Disorder of Glycosylation Type IIv ISO RGD:1353394 D RGD:7240710 20210908 OMIM 11989045 EDEM3 ER degradation enhancing alpha-mannosidase like protein 3 gene DOID:9005531 Congenital Disorder of Glycosylation Type IIv ISO RGD:1353394 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type 2v PMID:25741868|PMID:34143952 11989045 EDEM3 ER degradation enhancing alpha-mannosidase like protein 3 gene DOID:9007661 Dwarfism ISO RGD:1353394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11989045 EDEM3 ER degradation enhancing alpha-mannosidase like protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11989074 C19H19orf47 chromosome 19 C19orf47 homolog gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1605879 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11989074 C19H19orf47 chromosome 19 C19orf47 homolog gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1605879 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11989074 C19H19orf47 chromosome 19 C19orf47 homolog gene DOID:1342 congenital hypoplastic anemia ISO RGD:1605879 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11989074 C19H19orf47 chromosome 19 C19orf47 homolog gene DOID:2340 craniosynostosis ISO RGD:1605879 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11989074 C19H19orf47 chromosome 19 C19orf47 homolog gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1605879 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11989074 C19H19orf47 chromosome 19 C19orf47 homolog gene DOID:9269 maple syrup urine disease ISO RGD:1605879 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11989074 C19H19orf47 chromosome 19 C19orf47 homolog gene DOID:9352 type 2 diabetes mellitus ISO RGD:1605879 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11989108 GGT6 gamma-glutamyltransferase 6 gene DOID:630 genetic disease ISO RGD:1603275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11989131 CCDC136 coiled-coil domain containing 136 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11989131 CCDC136 coiled-coil domain containing 136 gene DOID:630 genetic disease ISO RGD:1604321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11989159 SYTL1 synaptotagmin like 1 gene DOID:630 genetic disease ISO RGD:1321784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11989183 NEUROD4 neuronal differentiation 4 gene DOID:630 genetic disease ISO RGD:1321332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11989189 USP24 ubiquitin specific peptidase 24 gene DOID:630 genetic disease ISO RGD:1315618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11989189 USP24 ubiquitin specific peptidase 24 gene DOID:9007661 Dwarfism ISO RGD:1315618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11989261 AADAT aminoadipate aminotransferase gene DOID:630 genetic disease ISO RGD:1606004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11989261 AADAT aminoadipate aminotransferase gene DOID:684 hepatocellular carcinoma ISO RGD:1606004 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11989261 AADAT aminoadipate aminotransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606004 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11989296 LINGO2 leucine rich repeat and Ig domain containing 2 gene DOID:11372 megacolon ISO RGD:1344562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11989296 LINGO2 leucine rich repeat and Ig domain containing 2 gene DOID:630 genetic disease ISO RGD:1344562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11989296 LINGO2 leucine rich repeat and Ig domain containing 2 gene DOID:670 amphetamine abuse ISO RGD:1344562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11989296 LINGO2 leucine rich repeat and Ig domain containing 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1344562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11989320 LOC100968761 cytochrome c oxidase subunit 7A-related protein, mitochondrial gene DOID:3883 Lynch syndrome ISO RGD:1314534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11989328 CAMK4 calcium/calmodulin dependent protein kinase IV gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731356 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11989328 CAMK4 calcium/calmodulin dependent protein kinase IV gene DOID:1059 intellectual disability ISO RGD:731356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30262571 11989328 CAMK4 calcium/calmodulin dependent protein kinase IV gene DOID:12336 male infertility ISO RGD:735406 D RGD:9068941 20200609 RGD PMID:10932193|REF_RGD_ID:734683 11989328 CAMK4 calcium/calmodulin dependent protein kinase IV gene DOID:630 genetic disease ISO RGD:731356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11989328 CAMK4 calcium/calmodulin dependent protein kinase IV gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11989328 CAMK4 calcium/calmodulin dependent protein kinase IV gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19001277 11989328 CAMK4 calcium/calmodulin dependent protein kinase IV gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 11989328 CAMK4 calcium/calmodulin dependent protein kinase IV gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731356 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11989343 NRM nurim gene DOID:11372 megacolon ISO RGD:1352240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11989343 NRM nurim gene DOID:630 genetic disease ISO RGD:1352240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11989361 DMBT1 deleted in malignant brain tumors 1 gene DOID:0050771 pheochromocytoma ISO RGD:61984 D RGD:9068941 20200609 RGD mRNA:decreased expression PMID:17102098|REF_RGD_ID:1599780 11989361 DMBT1 deleted in malignant brain tumors 1 gene DOID:2340 craniosynostosis ISO RGD:735357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 11989361 DMBT1 deleted in malignant brain tumors 1 gene DOID:3068 glioblastoma ISO RGD:735357 D RGD:9068941 20200609 RGD DNA:deletion PMID:9288095|REF_RGD_ID:1599778 11989361 DMBT1 deleted in malignant brain tumors 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11989361 DMBT1 deleted in malignant brain tumors 1 gene DOID:630 genetic disease ISO RGD:735357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11989361 DMBT1 deleted in malignant brain tumors 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:735357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 11989361 DMBT1 deleted in malignant brain tumors 1 gene DOID:9007971 Nose Neoplasms ISO RGD:61984 D RGD:9068941 20200609 RGD mRNA, Protein:increased expression PMID:12419858|REF_RGD_ID:1599782 11989389 TMEM59 transmembrane protein 59 gene DOID:630 genetic disease ISO RGD:1321145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11989389 TMEM59 transmembrane protein 59 gene DOID:9002239 Estrogen Resistance ISO RGD:1321145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Estrogen resistance syndrome 11989421 HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1349400 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome PMID:25741868 11989421 HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:1059 intellectual disability ISO RGD:1349400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11989421 HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:13501 Moebius syndrome ISO RGD:1349400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 11989421 HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:5419 schizophrenia ISO RGD:1349400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11989421 HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:1349400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23545411|PMID:25741868|PMID:27334371|PMID:27389779|PMID:28492532|PMID:29807643 11989421 HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:9000211 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE ISO RGD:1349400 D RGD:7240710 20190315 OMIM 11989421 HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:9000211 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE ISO RGD:1349400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language PMID:23545411|PMID:25741868|PMID:27389779|PMID:28492532|PMID:29807643 11989421 HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11989421 HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:9006140 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies ISO RGD:1349400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies PMID:23545411|PMID:25741868|PMID:27389779 11989421 HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1349400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11989421 HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:9008582 Developmental Disease ISO RGD:1349400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11989461 MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit gene DOID:14671 multiple intestinal atresia ISO RGD:1350244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple gastrointestinal atresias PMID:23830146|PMID:24292712|PMID:25741868|PMID:28492532 11989461 MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit gene DOID:1588 thrombocytopenia ISO RGD:1350244 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 11989461 MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit gene DOID:2213 hemorrhagic disease ISO RGD:1350244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 11989461 MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit gene DOID:224 transient cerebral ischemia ISO RGD:628690 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:17610559|REF_RGD_ID:11062141 11989461 MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit gene DOID:3883 Lynch syndrome ISO RGD:1350244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11989461 MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit gene DOID:627 severe combined immunodeficiency ISO RGD:1350244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 11989461 MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit gene DOID:630 genetic disease ISO RGD:1350244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11989461 MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit gene DOID:9000717 Familial Multiple Coagulation Factor Deficiency I ISO RGD:1350244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FMFD I PMID:12717434|PMID:13229969|PMID:25741868|PMID:31064749 11989461 MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit gene DOID:9007584 Von Willebrand Factor, Deficiency ISO RGD:1350244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Reduced von Willebrand factor activity PMID:32581362 11989461 MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit gene DOID:9008839 Factor V and Factor VIII, Combined Deficiency of, 2 ISO RGD:1350244 D RGD:7240710 20180130 OMIM 11989461 MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit gene DOID:9008839 Factor V and Factor VIII, Combined Deficiency of, 2 ISO RGD:1350244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor v and factor viii, combined deficiency of, 2 PMID:12717434|PMID:13229969|PMID:18391077|PMID:25741868|PMID:31064749 11989475 LOC100983429 D-dopachrome decarboxylase-like protein gene DOID:1826 epilepsy ISO RGD:1625820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11989475 LOC100983429 D-dopachrome decarboxylase-like protein gene DOID:5419 schizophrenia ISO RGD:1625820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11989475 LOC100983429 D-dopachrome decarboxylase-like protein gene DOID:630 genetic disease ISO RGD:1625820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11989481 WFDC12 WAP four-disulfide core domain 12 gene DOID:2234 focal epilepsy ISO RGD:1349049 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11989481 WFDC12 WAP four-disulfide core domain 12 gene DOID:630 genetic disease ISO RGD:1349049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11989481 WFDC12 WAP four-disulfide core domain 12 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1349049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11989488 DTX3L deltex E3 ubiquitin ligase 3L gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1344833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 11989488 DTX3L deltex E3 ubiquitin ligase 3L gene DOID:630 genetic disease ISO RGD:1344833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11989488 DTX3L deltex E3 ubiquitin ligase 3L gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1344833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 11989488 DTX3L deltex E3 ubiquitin ligase 3L gene DOID:9270 alkaptonuria ISO RGD:1344833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11989507 RAMAC RNA guanine-7 methyltransferase activating subunit gene DOID:13938 amenorrhea ISO RGD:1320685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11989507 RAMAC RNA guanine-7 methyltransferase activating subunit gene DOID:2717 Bloom syndrome ISO RGD:1320685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11989507 RAMAC RNA guanine-7 methyltransferase activating subunit gene DOID:630 genetic disease ISO RGD:1320685 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11989507 RAMAC RNA guanine-7 methyltransferase activating subunit gene DOID:9256 colorectal cancer ISO RGD:1320685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11989521 RND1 Rho family GTPase 1 gene DOID:630 genetic disease ISO RGD:1314903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11989579 LOC100967959 kinesin-like protein KIF27 gene DOID:10908 hydrocephalus ISO RGD:1553484 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 11989592 ADCK1 aarF domain containing kinase 1 gene DOID:630 genetic disease ISO RGD:1317936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11989612 ATP2C1 ATPase secretory pathway Ca2+ transporting 1 gene DOID:0050429 Hailey-Hailey disease ISO RGD:733912 D RGD:7240710 20180130 OMIM 11989612 ATP2C1 ATPase secretory pathway Ca2+ transporting 1 gene DOID:0050429 Hailey-Hailey disease ISO RGD:733912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial benign pemphigus PMID:10615129|PMID:10767338|PMID:11874499|PMID:15545997|PMID:21883398|PMID:25741868|PMID:28492532|PMID:3978039 11989612 ATP2C1 ATPase secretory pathway Ca2+ transporting 1 gene DOID:0111947 immunodeficiency 21 ISO RGD:733912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 11989612 ATP2C1 ATPase secretory pathway Ca2+ transporting 1 gene DOID:630 genetic disease ISO RGD:733912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11989612 ATP2C1 ATPase secretory pathway Ca2+ transporting 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:733912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868|PMID:28492532 11989612 ATP2C1 ATPase secretory pathway Ca2+ transporting 1 gene DOID:9270 alkaptonuria ISO RGD:733912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11989663 CPSF4L cleavage and polyadenylation specific factor 4 like gene DOID:630 genetic disease ISO RGD:2290025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11989672 EPB41L2 erythrocyte membrane protein band 4.1 like 2 gene DOID:630 genetic disease ISO RGD:1348118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11989672 EPB41L2 erythrocyte membrane protein band 4.1 like 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11989728 CDC5L cell division cycle 5 like gene DOID:0080205 CAKUT ISO RGD:731949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:27657687 11989728 CDC5L cell division cycle 5 like gene DOID:3347 osteosarcoma ISO RGD:731949 D RGD:9068941 20200609 RGD DNA:amplification:cds (human) PMID:18567798|REF_RGD_ID:10047050 11989728 CDC5L cell division cycle 5 like gene DOID:4914 esophagus adenocarcinoma disease_progression ISO RGD:731949 D RGD:9068941 20200609 RGD protein:increased expression:esophageal mucosa (human) PMID:15725809|REF_RGD_ID:10047052 11989728 CDC5L cell division cycle 5 like gene DOID:630 genetic disease ISO RGD:731949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11989728 CDC5L cell division cycle 5 like gene DOID:9005172 Lung Neoplasms ISO RGD:736292 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:14647414|REF_RGD_ID:10047051 11989762 RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:1606480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:25741868|PMID:28492532|PMID:30193310 11989762 RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1606480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia PMID:25741868 11989762 RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0050777 Joubert syndrome ISO RGD:1606480 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16682973|PMID:16909394|PMID:17576681|PMID:19764032|PMID:20683928|PMID:21786365|PMID:23954617|PMID:25741868|PMID:27821535|PMID:28492532|PMID:29588463|PMID:30193310|PMID:34196655|PMID:9536098 11989762 RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0050778 Meckel syndrome ISO RGD:1606480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25741868 11989762 RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0070118 Meckel syndrome 4 ISO RGD:1606480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 4 PMID:28492532 11989762 RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0110136 Bardet-Biedl syndrome 14 ISO RGD:1606480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 PMID:28492532 11989762 RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0110291 Leber congenital amaurosis 10 ISO RGD:1606480 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 10 PMID:16682973|PMID:16909394|PMID:20683928|PMID:25741868|PMID:28492532|PMID:29588463 11989762 RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0111000 Joubert syndrome 5 ISO RGD:1606480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 5 PMID:16682973|PMID:16909394|PMID:20683928|PMID:25741868|PMID:28492532|PMID:29588463 11989762 RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:1059 intellectual disability ISO RGD:1606480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11989762 RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1606480 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:16682973|PMID:16909394|PMID:25741868|PMID:28492532|PMID:29588463|PMID:34196655 11989762 RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868 11989762 RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:630 genetic disease ISO RGD:1606480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11989762 RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:8501 fundus dystrophy ISO RGD:1606480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 11989762 RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1606480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16682973|PMID:16909394|PMID:25741868|PMID:28492532|PMID:29588463 11989762 RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:9008709 Senior-Loken Syndrome 6 ISO RGD:1606480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 6 PMID:28492532 11989773 PDSS2 decaprenyl diphosphate synthase subunit 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1353926 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 11989773 PDSS2 decaprenyl diphosphate synthase subunit 2 gene DOID:0050730 coenzyme Q10 deficiency disease ISO RGD:1353926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary 11989773 PDSS2 decaprenyl diphosphate synthase subunit 2 gene DOID:0070240 primary coenzyme Q10 deficiency 3 ISO RGD:1353926 D RGD:7240710 20180130 OMIM 11989773 PDSS2 decaprenyl diphosphate synthase subunit 2 gene DOID:0070240 primary coenzyme Q10 deficiency 3 ISO RGD:1353926 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 3 PMID:17186472|PMID:17374725|PMID:19096106|PMID:20495179|PMID:20689595|PMID:23816342|PMID:25349199|PMID:25741868|PMID:28492532|PMID:29127259 11989773 PDSS2 decaprenyl diphosphate synthase subunit 2 gene DOID:1184 nephrotic syndrome ISO RGD:1353926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:17186472|PMID:17374725|PMID:19096106|PMID:20689595|PMID:23816342|PMID:25349199|PMID:25741868|PMID:28492532|PMID:29127259 11989773 PDSS2 decaprenyl diphosphate synthase subunit 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1353926 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868|PMID:28492532 11989773 PDSS2 decaprenyl diphosphate synthase subunit 2 gene DOID:557 kidney disease ISO RGD:1353926 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 11989773 PDSS2 decaprenyl diphosphate synthase subunit 2 gene DOID:630 genetic disease ISO RGD:1353926 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11989773 PDSS2 decaprenyl diphosphate synthase subunit 2 gene DOID:9001753 Hypomyelinating Leukodystrophy 24 ISO RGD:1353926 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 24 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11989788 DNAH5 dynein axonemal heavy chain 5 gene DOID:0050144 Kartagener syndrome ISO RGD:1348406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:11788826|PMID:16627867|PMID:19357118|PMID:19630565|PMID:23477994|PMID:25741868|PMID:28492532|PMID:30067075 11989788 DNAH5 dynein axonemal heavy chain 5 gene DOID:0050144 Kartagener syndrome susceptibility ISO RGD:1348406 D RGD:9068941 20200609 RGD DNA:mutations PMID:11788826|REF_RGD_ID:1601080 11989788 DNAH5 dynein axonemal heavy chain 5 gene DOID:0050545 visceral heterotaxy ISO RGD:1348406 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Situs ambiguus PMID:11788826|PMID:16627867|PMID:19357118|PMID:25186273|PMID:25741868|PMID:26228299|PMID:28492532|PMID:30290127 11989788 DNAH5 dynein axonemal heavy chain 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1348406 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11989788 DNAH5 dynein axonemal heavy chain 5 gene DOID:0110599 primary ciliary dyskinesia 3 ISO RGD:1348406 D RGD:7240710 20180130 OMIM 11989788 DNAH5 dynein axonemal heavy chain 5 gene DOID:0110599 primary ciliary dyskinesia 3 ISO RGD:1348406 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 PMID:11062149|PMID:11788826|PMID:11912187|PMID:15750039|PMID:16199547|PMID:16492982|PMID:16627867|PMID:17534128|PMID:17576681|PMID:18492703|PMID:18950741|PMID:19357118|PMID:19630565|PMID:20301301|PMID:2127064|PMID:21270641|PMID:22416021|PMID:22499950|PMID:23261302|PMID:23477994|PMID:2389146|PMID:23891469|PMID:24033266|PMID:24150548|PMID:24448499|PMID:24498942|PMID:25066065|PMID:25118008|PMID:25186273|PMID:25326635|PMID:25741868|PMID:25802884|PMID:26139845|PMID:26228299|PMID:26373788|PMID:26918822|PMID:26938784|PMID:27637300|PMID:27779714|PMID:28492532|PMID:29089047|PMID:29363216|PMID:29402277|PMID:29453417|PMID:30067075|PMID:30293990|PMID:30300419|PMID:31213628|PMID:31589614|PMID:31624253|PMID:31638833|PMID:31772028|PMID:31879361|PMID:32357925|PMID:32367404|PMID:32502479|PMID:32502767|PMID:33574797|PMID:33589394|PMID:33635012|PMID:9536098 11989788 DNAH5 dynein axonemal heavy chain 5 gene DOID:10754 otitis media ISO RGD:1558622 D RGD:9068941 20220825 MouseDO OMIM:166760 11989788 DNAH5 dynein axonemal heavy chain 5 gene DOID:12336 male infertility ISO RGD:1348406 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Male infertility PMID:11788826|PMID:16627867|PMID:19357118|PMID:25741868|PMID:28492532|PMID:33574797 11989788 DNAH5 dynein axonemal heavy chain 5 gene DOID:2841 asthma ISO RGD:1348406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21912604 11989788 DNAH5 dynein axonemal heavy chain 5 gene DOID:5223 infertility ISO RGD:1348406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infertility PMID:11788826|PMID:16627867|PMID:25741868|PMID:27637300|PMID:28492532|PMID:30293990|PMID:31589614|PMID:31879361 11989788 DNAH5 dynein axonemal heavy chain 5 gene DOID:630 genetic disease ISO RGD:1348406 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11788826|PMID:16199547|PMID:16627867|PMID:17576681|PMID:2127064|PMID:21270641|PMID:23261302|PMID:2389146|PMID:23891469|PMID:24033266|PMID:25741868|PMID:26373788|PMID:27637300|PMID:28492532|PMID:30067075|PMID:9536098 11989788 DNAH5 dynein axonemal heavy chain 5 gene DOID:6419 tetralogy of Fallot ISO RGD:1558622 D RGD:9068941 20220825 MouseDO OMIM:187500 11989788 DNAH5 dynein axonemal heavy chain 5 gene DOID:758 situs inversus ISO RGD:1348406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence PMID:11788826|PMID:16627867|PMID:19357118|PMID:25186273|PMID:25741868|PMID:26228299|PMID:28492532|PMID:30290127 11989788 DNAH5 dynein axonemal heavy chain 5 gene DOID:9007073 Cough ISO RGD:1348406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cough PMID:25741868|PMID:28492532 11989788 DNAH5 dynein axonemal heavy chain 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1348406 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:11062149|PMID:11788826|PMID:11912187|PMID:15750039|PMID:16199547|PMID:16492982|PMID:16627867|PMID:17534128|PMID:17576681|PMID:18492703|PMID:18950741|PMID:19357118|PMID:19630565|PMID:19763152|PMID:20301301|PMID:20307669|PMID:2127064|PMID:21270641|PMID:22406018|PMID:22416021|PMID:22499950|PMID:23261302|PMID:23477994|PMID:2389146|PMID:23891469|PMID:24033266|PMID:24150548|PMID:24448499|PMID:24498942|PMID:24905662|PMID:2506606|PMID:25066065|PMID:25118008|PMID:25186273|PMID:25326635|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25802884|PMID:26139845|PMID:26228299|PMID:26373788|PMID:26918822|PMID:26938784|PMID:27428751|PMID:27618201|PMID:27637300|PMID:27637763|PMID:27779714|PMID:27988889|PMID:28492532|PMID:28939216|PMID:28976722|PMID:29089047|PMID:29363216|PMID:29402277|PMID:29453417|PMID:30067075|PMID:30148830|PMID:30290127|PMID:30293990|PMID:30300419|PMID:31213628|PMID:31443223|PMID:31469207|PMID:31589614|PMID:31624253|PMID:31638833|PMID:31765523|PMID:31772028|PMID:31879361|PMID:32357925|PMID:32367404|PMID:32502479|PMID:32502767|PMID:33574797|PMID:33577779|PMID:33589394|PMID:33635012|PMID:9536098 11989875 LOC100976419 interferon lambda-1 gene DOID:0080600 COVID-19 ameliorates ISO RGD:1347142 D RGD:9068941 20210430 RGD human protein in a mouse model PMID:32854108|REF_RGD_ID:126848773 11989875 LOC100976419 interferon lambda-1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1347142 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11989875 LOC100976419 interferon lambda-1 gene DOID:12205 dengue disease ameliorates ISO RGD:1347142 D RGD:9068941 20210430 RGD protein:increased expression:blood serum (human) PMID:28238051|REF_RGD_ID:126848771 11989875 LOC100976419 interferon lambda-1 gene DOID:12206 dengue hemorrhagic fever ameliorates ISO RGD:1347142 D RGD:9068941 20210430 RGD DNA:SNP:enhancer:-1043C>T (rs7247086) (human) PMID:31981768|REF_RGD_ID:126848742 11989875 LOC100976419 interferon lambda-1 gene DOID:1883 hepatitis C ISO RGD:1347142 D RGD:9068941 20210430 RGD DNA:missense mutation, haplotype:exon (rs30461) (human) PMID:24269996|REF_RGD_ID:126848746 11989875 LOC100976419 interferon lambda-1 gene DOID:2841 asthma exacerbates ISO RGD:1347142 D RGD:9068941 20210430 RGD associated with common cold;mRNA:decreased expression:sputum (human) PMID:25784275|REF_RGD_ID:126848770 11989875 LOC100976419 interferon lambda-1 gene DOID:2841 asthma exacerbates ISO RGD:1347142 D RGD:9068941 20210430 RGD associated with common cold;protein:increased expression: nasal cavity (human) PMID:22135341|REF_RGD_ID:126848775 11989875 LOC100976419 interferon lambda-1 gene DOID:321 tropical spastic paraparesis ISO RGD:1347142 D RGD:9068941 20210430 RGD associated with HTLV-I Infections;mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:29990995|REF_RGD_ID:126848769 11989875 LOC100976419 interferon lambda-1 gene DOID:630 genetic disease ISO RGD:1347142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11989875 LOC100976419 interferon lambda-1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1347142 D RGD:9068941 20210430 RGD human protein and cells in mouse model PMID:24769671|REF_RGD_ID:126848750 11989875 LOC100976419 interferon lambda-1 gene DOID:8970 subacute sclerosing panencephalitis ISO RGD:1347142 D RGD:9068941 20210430 RGD protein:increased expression:blood serum (human) PMID:30077763|REF_RGD_ID:126848745 11989875 LOC100976419 interferon lambda-1 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1347142 D RGD:9068941 20210430 RGD mRNA,protein:increased expression:liver, blood serum (human) PMID:23071503|REF_RGD_ID:126848749 11989875 LOC100976419 interferon lambda-1 gene DOID:9004017 Chronic Hepatitis C ameliorates ISO RGD:1347142 D RGD:9068941 20210430 RGD protein:altered expression:blood serum (human) PMID:21145813|REF_RGD_ID:126848747 11989875 LOC100976419 interferon lambda-1 gene DOID:9004017 Chronic Hepatitis C ameliorates ISO RGD:1347142 D RGD:9068941 20210430 RGD protein:increased expression:blood serum (human) PMID:30926417|REF_RGD_ID:126848741 11989875 LOC100976419 interferon lambda-1 gene DOID:9006081 Osteolysis ameliorates ISO RGD:1347142 D RGD:9068941 20210430 RGD associated with Inflammation; human protein in a mouse model PMID:32488049|REF_RGD_ID:126848774 11989875 LOC100976419 interferon lambda-1 gene DOID:9006928 Viral Bronchiolitis exacerbates ISO RGD:1347142 D RGD:9068941 20210430 RGD associated with respiratory syncytial virus infectious disease;mRNA:increased expression:mucosa of nasopharynx (human) PMID:24389019|REF_RGD_ID:126848743 11989875 LOC100976419 interferon lambda-1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1347142 D RGD:9068941 20210430 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:21957142|REF_RGD_ID:126848748 11989875 LOC100976419 interferon lambda-1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347142 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11989884 NUP62CL nucleoporin 62 C-terminal like gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1606555 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 11989884 NUP62CL nucleoporin 62 C-terminal like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11989884 NUP62CL nucleoporin 62 C-terminal like gene DOID:12849 autistic disorder ISO RGD:1606555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11989884 NUP62CL nucleoporin 62 C-terminal like gene DOID:630 genetic disease ISO RGD:1606555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11989896 CDHR1 cadherin related family member 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:737398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:16199547|PMID:17576681|PMID:23044944|PMID:23233793|PMID:23591405|PMID:24033266|PMID:25741868|PMID:26103963|PMID:26261414|PMID:27353947|PMID:28224992|PMID:28492532|PMID:28765526|PMID:28885867|PMID:29555955|PMID:30718709|PMID:31387115|PMID:32681094|PMID:33546218|PMID:9536098 11989896 CDHR1 cadherin related family member 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:737398 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:16199547|PMID:17576681|PMID:23044944|PMID:23233793|PMID:23591405|PMID:24033266|PMID:25741868|PMID:26103963|PMID:26261414|PMID:27353947|PMID:28224992|PMID:28492532|PMID:28765526|PMID:28885867|PMID:29555955|PMID:30718709|PMID:31387115|PMID:32681094|PMID:33546218|PMID:35627310|PMID:9536098 11989896 CDHR1 cadherin related family member 1 gene DOID:0050795 cone dystrophy ISO RGD:737398 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:25741868|PMID:26766544|PMID:28041643|PMID:28492532|PMID:28765526|PMID:30718709|PMID:33546218|PMID:35627310 11989896 CDHR1 cadherin related family member 1 gene DOID:0080600 COVID-19 ISO RGD:737398 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11989896 CDHR1 cadherin related family member 1 gene DOID:0111021 cone-rod dystrophy 15 ISO RGD:737398 D RGD:7240710 20180130 OMIM 11989896 CDHR1 cadherin related family member 1 gene DOID:0111021 cone-rod dystrophy 15 ISO RGD:737398 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 15 | ClinVar Annotator: match by term: Retinitis pigmentosa 65 PMID:16199547|PMID:17576681|PMID:20087419|PMID:20805371|PMID:23044944|PMID:23233793|PMID:23591405|PMID:24033266|PMID:24154662|PMID:25741868|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26766544|PMID:27353947|PMID:27623334|PMID:28041643|PMID:28224992|PMID:28418496|PMID:28492532|PMID:28765526|PMID:28885867|PMID:29555955|PMID:29785639|PMID:30576320|PMID:30718709|PMID:30992995|PMID:31387115|PMID:32681094|PMID:33546218|PMID:33691693|PMID:33946315|PMID:34926197|PMID:35627310|PMID:9536098 11989896 CDHR1 cadherin related family member 1 gene DOID:10584 retinitis pigmentosa ISO RGD:737398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:20805371|PMID:23044944|PMID:23591405|PMID:24033266|PMID:25741868|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26766544|PMID:27353947|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28765526|PMID:28885867|PMID:29555955|PMID:30718709|PMID:31387115|PMID:32681094|PMID:33546218|PMID:9536098 11989896 CDHR1 cadherin related family member 1 gene DOID:10584 retinitis pigmentosa ISO RGD:737398 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:20805371|PMID:23044944|PMID:23591405|PMID:24033266|PMID:25741868|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26766544|PMID:27353947|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28765526|PMID:28885867|PMID:29555955|PMID:30718709|PMID:31387115|PMID:32681094|PMID:33546218|PMID:35627310|PMID:9536098 11989896 CDHR1 cadherin related family member 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:737398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:20805371|PMID:23044944|PMID:23591405|PMID:25741868|PMID:26103963|PMID:26261414|PMID:28492532|PMID:30718709 11989896 CDHR1 cadherin related family member 1 gene DOID:630 genetic disease ISO RGD:737398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11989896 CDHR1 cadherin related family member 1 gene DOID:8501 fundus dystrophy ISO RGD:737398 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:17576681|PMID:20087419|PMID:23044944|PMID:23233793|PMID:23591405|PMID:24033266|PMID:25741868|PMID:26103963|PMID:26261414|PMID:26350383|PMID:26766544|PMID:27353947|PMID:27623334|PMID:28041643|PMID:28224992|PMID:28418496|PMID:28492532|PMID:28765526|PMID:28885867|PMID:29555955|PMID:30718709|PMID:31387115|PMID:32681094|PMID:33546218|PMID:35627310|PMID:9536098 11989918 ENDOD1 endonuclease domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1602126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11989918 ENDOD1 endonuclease domain containing 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1602126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11989918 ENDOD1 endonuclease domain containing 1 gene DOID:630 genetic disease ISO RGD:1602126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11989925 TMEM141 transmembrane protein 141 gene DOID:0050777 Joubert syndrome ISO RGD:1602669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11989925 TMEM141 transmembrane protein 141 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1602669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11989925 TMEM141 transmembrane protein 141 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1602669 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11989925 TMEM141 transmembrane protein 141 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1602669 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11989925 TMEM141 transmembrane protein 141 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1602669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11989925 TMEM141 transmembrane protein 141 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1602669 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11989925 TMEM141 transmembrane protein 141 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1602669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 11989925 TMEM141 transmembrane protein 141 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1602669 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11989925 TMEM141 transmembrane protein 141 gene DOID:0081097 Rafiq syndrome ISO RGD:1602669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11989925 TMEM141 transmembrane protein 141 gene DOID:3652 Leigh disease ISO RGD:1602669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11989925 TMEM141 transmembrane protein 141 gene DOID:630 genetic disease ISO RGD:1602669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11989925 TMEM141 transmembrane protein 141 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1602669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11989938 NLRP13 NLR family pyrin domain containing 13 gene DOID:2843 long QT syndrome ISO RGD:1353277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11989938 NLRP13 NLR family pyrin domain containing 13 gene DOID:630 genetic disease ISO RGD:1353277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11989963 DYM dymeclin gene DOID:0060247 Smith-McCort dysplasia ISO RGD:1350887 D RGD:8554872 20221122 ClinVar ClinVar Annotator: match by term: Smith-McCort dysplasia PMID:25741868|PMID:28492532 11989963 DYM dymeclin gene DOID:0081270 Smith-McCort dysplasia 1 ISO RGD:1350887 D RGD:7240710 20221123 OMIM 11989963 DYM dymeclin gene DOID:0081270 Smith-McCort dysplasia 1 ISO RGD:1350887 D RGD:8554872 20221122 ClinVar ClinVar Annotator: match by term: Smith-McCort dysplasia 1 PMID:12491225|PMID:16097008|PMID:18996921|PMID:19005420|PMID:25741868|PMID:28492532 11989963 DYM dymeclin gene DOID:0111167 Dyggve-Melchior-Clausen disease ISO RGD:1350887 D RGD:7240710 20180130 OMIM 11989963 DYM dymeclin gene DOID:0111167 Dyggve-Melchior-Clausen disease ISO RGD:1350887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndrome PMID:12161821|PMID:12491225|PMID:12554689|PMID:16097008|PMID:16199547|PMID:18996921|PMID:22090722|PMID:25741868|PMID:28492532|PMID:32886330 11989963 DYM dymeclin gene DOID:10283 prostate cancer ISO RGD:1350887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11989963 DYM dymeclin gene DOID:1059 intellectual disability ISO RGD:1350887 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11989963 DYM dymeclin gene DOID:2256 osteochondrodysplasia ISO RGD:1350887 D RGD:9068941 20200609 RGD PMID:12491225|REF_RGD_ID:1598787 11989963 DYM dymeclin gene DOID:5419 schizophrenia ISO RGD:1350887 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11989963 DYM dymeclin gene DOID:630 genetic disease ISO RGD:1350887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12491225|PMID:12554689|PMID:18996921|PMID:25741868|PMID:28492532 11989963 DYM dymeclin gene DOID:65 connective tissue disease ISO RGD:1350887 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 11989995 SLC15A1 solute carrier family 15 member 1 gene DOID:0110878 holoprosencephaly 5 ISO RGD:730868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 11989995 SLC15A1 solute carrier family 15 member 1 gene DOID:4621 holoprosencephaly ISO RGD:730868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 11989995 SLC15A1 solute carrier family 15 member 1 gene DOID:630 genetic disease ISO RGD:730868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11989995 SLC15A1 solute carrier family 15 member 1 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:730868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11990019 ARRB1 arrestin beta 1 gene DOID:0060180 colitis ISO RGD:2156 D RGD:9068941 20200609 RGD protein:increased expression:colon (rat) PMID:21066892|REF_RGD_ID:5509893 11990019 ARRB1 arrestin beta 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:732370 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11990019 ARRB1 arrestin beta 1 gene DOID:1059 intellectual disability ISO RGD:732370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11990019 ARRB1 arrestin beta 1 gene DOID:1470 major depressive disorder severity ISO RGD:732370 D RGD:9068941 20200609 RGD protein:decreased expression:blood, mononuclear cell PMID:15514408|REF_RGD_ID:1578803 11990019 ARRB1 arrestin beta 1 gene DOID:5082 liver cirrhosis ISO RGD:732370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 11990019 ARRB1 arrestin beta 1 gene DOID:6000 congestive heart failure treatment ISO RGD:2156 D RGD:9068941 20200609 RGD PMID:21232674|REF_RGD_ID:5509888 11990019 ARRB1 arrestin beta 1 gene DOID:630 genetic disease ISO RGD:732370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11990019 ARRB1 arrestin beta 1 gene DOID:9002457 Experimental Arthritis ISO RGD:2156 D RGD:9068941 20200609 RGD protein:increased expression:knee, synoviocyte (rat) PMID:20965243|REF_RGD_ID:5509895 11990019 ARRB1 arrestin beta 1 gene DOID:9004283 Transplant Rejection ISO RGD:2156 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood, leukocyte PMID:21193245|REF_RGD_ID:13506894 11990019 ARRB1 arrestin beta 1 gene DOID:9005605 Arteriovenous Fistula ISO RGD:2156 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:left ventricle (rat) PMID:22015551|REF_RGD_ID:5509867 11990058 C1QTNF4 C1q and TNF related 4 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1322231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11990058 C1QTNF4 C1q and TNF related 4 gene DOID:1059 intellectual disability ISO RGD:1322231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11990058 C1QTNF4 C1q and TNF related 4 gene DOID:630 genetic disease ISO RGD:1322231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11990063 NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1316424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 11990063 NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1316424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11990063 NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:0112086 nuclear type mitochondrial complex I deficiency 26 ISO RGD:1316424 D RGD:7240710 20190315 OMIM 11990063 NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:0112086 nuclear type mitochondrial complex I deficiency 26 ISO RGD:1316424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 PMID:22114105|PMID:25741868|PMID:28492532|PMID:28671271 11990063 NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:3652 Leigh disease ISO RGD:1316424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:28492532 11990063 NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:630 genetic disease ISO RGD:1316424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11990063 NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1316424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11990079 ISY1 ISY1 splicing factor homolog gene DOID:0111947 immunodeficiency 21 ISO RGD:1606526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 11990079 ISY1 ISY1 splicing factor homolog gene DOID:630 genetic disease ISO RGD:1606526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11990079 ISY1 ISY1 splicing factor homolog gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1606526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 11990079 ISY1 ISY1 splicing factor homolog gene DOID:9270 alkaptonuria ISO RGD:1606526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11990098 ATG14 autophagy related 14 gene DOID:630 genetic disease ISO RGD:1312148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11990112 LOC100987595 protein piccolo gene DOID:0050834 CHARGE syndrome ISO RGD:69449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532 11990112 LOC100987595 protein piccolo gene DOID:0060272 pontocerebellar hypoplasia type 3 ISO RGD:69449 D RGD:7240710 20180130 OMIM 11990112 LOC100987595 protein piccolo gene DOID:0060272 pontocerebellar hypoplasia type 3 ISO RGD:69449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 3 PMID:12771259|PMID:25741868|PMID:25832664|PMID:28492532 11990112 LOC100987595 protein piccolo gene DOID:10907 microcephaly ISO RGD:69449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11990112 LOC100987595 protein piccolo gene DOID:1826 epilepsy ISO RGD:69449 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 11990112 LOC100987595 protein piccolo gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11990112 LOC100987595 protein piccolo gene DOID:5419 schizophrenia ISO RGD:69449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11990112 LOC100987595 protein piccolo gene DOID:630 genetic disease ISO RGD:69449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31785789 11990112 LOC100987595 protein piccolo gene DOID:9000271 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation ISO RGD:69449 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation PMID:25741868|PMID:28492532 11990154 SEC14L5 SEC14 like lipid binding 5 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1605420 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:28492532 11990154 SEC14L5 SEC14 like lipid binding 5 gene DOID:630 genetic disease ISO RGD:1605420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11990175 FGB fibrinogen beta chain gene DOID:0060903 thrombosis ISO RGD:734251 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombus PMID:10688828|PMID:19420351|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31064749 11990175 FGB fibrinogen beta chain gene DOID:0060903 thrombosis susceptibility ISO RGD:734251 D RGD:9068941 20200609 RGD associated with Lupus Nephritis;;DNA:polymorphism: :-455G>A (human) PMID:17469143|REF_RGD_ID:7175506 11990175 FGB fibrinogen beta chain gene DOID:11476 osteoporosis ISO RGD:734251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 11990175 FGB fibrinogen beta chain gene DOID:1287 cardiovascular system disease disease_progression ISO RGD:734251 D RGD:9068941 20200609 RGD PMID:18278190|REF_RGD_ID:5688760 11990175 FGB fibrinogen beta chain gene DOID:14330 Parkinson's disease ISO RGD:734251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23233872 11990175 FGB fibrinogen beta chain gene DOID:2213 hemorrhagic disease ISO RGD:734251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:10688828|PMID:19420351|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31064749 11990175 FGB fibrinogen beta chain gene DOID:2236 congenital afibrinogenemia ISO RGD:734251 D RGD:7240710 20180130 OMIM 11990175 FGB fibrinogen beta chain gene DOID:2236 congenital afibrinogenemia ISO RGD:734251 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Hypofibrinogenemia PMID:10666208|PMID:10688828|PMID:11468164|PMID:12161363|PMID:12393540|PMID:12573244|PMID:15070683|PMID:1565641|PMID:15795540|PMID:19420351|PMID:21713329|PMID:22273812|PMID:22836883|PMID:23061815|PMID:24033266|PMID:24679643|PMID:25320241|PMID:25592583|PMID:25741868|PMID:27164460|PMID:28492532|PMID:30349899|PMID:31064749|PMID:31314131|PMID:3194892|PMID:34355501 11990175 FGB fibrinogen beta chain gene DOID:2945 severe acute respiratory syndrome ISO RGD:734252 D RGD:9068941 20200625 RGD protein:increased expression:lung (mouse) PMID:23919993|REF_RGD_ID:30310231 11990175 FGB fibrinogen beta chain gene DOID:3393 coronary artery disease ISO RGD:734251 D RGD:9068941 20200609 RGD PMID:8565160|REF_RGD_ID:1580382 11990175 FGB fibrinogen beta chain gene DOID:3407 carotid artery disease ISO RGD:734251 D RGD:9068941 20200609 RGD PMID:9514419|REF_RGD_ID:1580383 11990175 FGB fibrinogen beta chain gene DOID:4989 pancreatitis ISO RGD:2604 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, rough endoplasmic reticulum PMID:19954227|REF_RGD_ID:5688770 11990175 FGB fibrinogen beta chain gene DOID:5844 myocardial infarction ISO RGD:734251 D RGD:9068941 20200609 RGD PMID:9437197|REF_RGD_ID:1580381 11990175 FGB fibrinogen beta chain gene DOID:630 genetic disease ISO RGD:734251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11990175 FGB fibrinogen beta chain gene DOID:783 end stage renal disease treatment ISO RGD:734251 D RGD:9068941 20200609 RGD associated with hypertension;DNA:polymorphism: :-455G>A (human) PMID:19352213|REF_RGD_ID:7175505 11990175 FGB fibrinogen beta chain gene DOID:9003464 Congenital Dysfibrinogenemia ISO RGD:734251 D RGD:7240710 20180130 OMIM 11990175 FGB fibrinogen beta chain gene DOID:9003464 Congenital Dysfibrinogenemia ISO RGD:734251 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dysfibrinogenemia, congenital PMID:25741868 11990175 FGB fibrinogen beta chain gene DOID:9003871 Venous Thrombosis ISO RGD:734251 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:12573244|PMID:15795540|PMID:25741868|PMID:28492532|PMID:31064749 11990175 FGB fibrinogen beta chain gene DOID:9004929 Congenital Hypodysfibrinogenemia ISO RGD:734251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FIBRINOGEN BALTIMORE 2 | ClinVar Annotator: match by term: FIBRINOGEN CHRISTCHURCH 2 | ClinVar Annotator: match by term: FIBRINOGEN LONGMONT PMID:11468164|PMID:1565641|PMID:23061815|PMID:24679643|PMID:25320241|PMID:25741868|PMID:28492532|PMID:31064749|PMID:31314131|PMID:3194892 11990175 FGB fibrinogen beta chain gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2604 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:21685370|REF_RGD_ID:7175292 11990175 FGB fibrinogen beta chain gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:734251 D RGD:9068941 20200609 RGD PMID:21685370|REF_RGD_ID:7175292 11990175 FGB fibrinogen beta chain gene DOID:9007096 Stroke ISO RGD:734251 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:1565641|PMID:23061815|PMID:24679643|PMID:25320241|PMID:25741868|PMID:31064749|PMID:31314131 11990175 FGB fibrinogen beta chain gene DOID:9007096 Stroke susceptibility ISO RGD:734251 D RGD:9068941 20200609 RGD DNA:SNP:promoter:1038G>A (rs1800791) (human) PMID:18278190|REF_RGD_ID:5688760 11990175 FGB fibrinogen beta chain gene DOID:9007096 Stroke susceptibility ISO RGD:734251 D RGD:9068941 20200609 RGD DNA:polymorphism: :-455G>A(human) PMID:24107890|REF_RGD_ID:10450767 11990175 FGB fibrinogen beta chain gene DOID:9352 type 2 diabetes mellitus ISO RGD:734251 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:7974333|REF_RGD_ID:2312416 11990175 FGB fibrinogen beta chain gene DOID:9477 pulmonary embolism ISO RGD:2604 D RGD:9068941 20200609 RGD protein:increased expression:blood microparticle PMID:22014850|REF_RGD_ID:5688769 11990187 EEIG2 EEIG family member 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1603518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11990187 EEIG2 EEIG family member 2 gene DOID:12849 autistic disorder ISO RGD:1603518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11990187 EEIG2 EEIG family member 2 gene DOID:630 genetic disease ISO RGD:1603518 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11990187 EEIG2 EEIG family member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603518 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11990202 INA internexin neuronal intermediate filament protein alpha gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:69037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 11990202 INA internexin neuronal intermediate filament protein alpha gene DOID:3525 middle cerebral artery infarction ISO RGD:10806 D RGD:9068941 20201211 RGD PMID:29967576|REF_RGD_ID:27226878 11990202 INA internexin neuronal intermediate filament protein alpha gene DOID:630 genetic disease ISO RGD:69037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11990202 INA internexin neuronal intermediate filament protein alpha gene DOID:9002189 High Myopia ISO RGD:69037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11990202 INA internexin neuronal intermediate filament protein alpha gene DOID:9005125 Lupus Vasculitis, Central Nervous System severity ISO RGD:69037 D RGD:9068941 20201204 RGD PMID:20559547|REF_RGD_ID:40886275 11990209 MYO18A myosin XVIIIA gene DOID:10283 prostate cancer ISO RGD:1605490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11990209 MYO18A myosin XVIIIA gene DOID:630 genetic disease ISO RGD:1605490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11990209 MYO18A myosin XVIIIA gene DOID:9008386 Hydrops Fetalis ISO RGD:1605490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrops fetalis PMID:25741868 11990272 EXOSC1 exosome component 1 gene DOID:0112331 pontocerebellar hypoplasia type 1F ISO RGD:1352643 D RGD:7240710 20210526 OMIM 11990272 EXOSC1 exosome component 1 gene DOID:0112331 pontocerebellar hypoplasia type 1F ISO RGD:1352643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1F PMID:33463720 11990272 EXOSC1 exosome component 1 gene DOID:630 genetic disease ISO RGD:1352643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11990284 MRPL50 mitochondrial ribosomal protein L50 gene DOID:1059 intellectual disability ISO RGD:1317530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11990284 MRPL50 mitochondrial ribosomal protein L50 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:1317530 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:18541450|PMID:28492532 11990284 MRPL50 mitochondrial ribosomal protein L50 gene DOID:630 genetic disease ISO RGD:1317530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11990284 MRPL50 mitochondrial ribosomal protein L50 gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:1317530 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose intolerance PMID:18541450|PMID:28492532 11990357 PWP1 PWP1 homolog, endonuclein gene DOID:630 genetic disease ISO RGD:1605095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11990376 CLEC2A C-type lectin domain family 2 member A gene DOID:630 genetic disease ISO RGD:1348681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11990388 EMC8 ER membrane protein complex subunit 8 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1322563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 11990388 EMC8 ER membrane protein complex subunit 8 gene DOID:630 genetic disease ISO RGD:1322563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11990397 PDZD11 PDZ domain containing 11 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11990397 PDZD11 PDZ domain containing 11 gene DOID:12849 autistic disorder ISO RGD:1350594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11990397 PDZD11 PDZ domain containing 11 gene DOID:1826 epilepsy ISO RGD:1350594 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11990415 RAMP1 receptor activity modifying protein 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:735949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11990415 RAMP1 receptor activity modifying protein 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:735949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11990415 RAMP1 receptor activity modifying protein 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:735949 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11990415 RAMP1 receptor activity modifying protein 1 gene DOID:1059 intellectual disability ISO RGD:735949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11990415 RAMP1 receptor activity modifying protein 1 gene DOID:630 genetic disease ISO RGD:735949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11990415 RAMP1 receptor activity modifying protein 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:735949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11990415 RAMP1 receptor activity modifying protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11990425 FECH ferrochelatase gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1316819 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 11990425 FECH ferrochelatase gene DOID:0111988 immunodeficiency 12 ISO RGD:1316819 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 11990425 FECH ferrochelatase gene DOID:13270 erythropoietic protoporphyria ISO RGD:1316819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10464147|PMID:12950064|PMID:15284838|PMID:15793285|PMID:17600043|PMID:29906468 11990425 FECH ferrochelatase gene DOID:13270 erythropoietic protoporphyria ISO RGD:1316819 D RGD:9068941 20200609 RGD DNA:mutation:introns:IVS3-48C(human) PMID:26280465|REF_RGD_ID:14700883 11990425 FECH ferrochelatase gene DOID:13270 erythropoietic protoporphyria ISO RGD:1316819 D RGD:9068941 20200609 RGD DNA:mutations:exons: PMID:10942404|REF_RGD_ID:14700886 11990425 FECH ferrochelatase gene DOID:13270 erythropoietic protoporphyria ISO RGD:1316819 D RGD:9068941 20200609 RGD DNA:mutations:introns:IVS-48C,IVS1-23T(human) PMID:26789144|REF_RGD_ID:11556165 11990425 FECH ferrochelatase gene DOID:13270 erythropoietic protoporphyria ISO RGD:1316820 D RGD:9068941 20200609 RGD PMID:19787086|REF_RGD_ID:14700889 11990425 FECH ferrochelatase gene DOID:13270 erythropoietic protoporphyria ISO RGD:1316820 D RGD:9068941 20220825 MouseDO OMIM:177000 | OMIM:300752 11990425 FECH ferrochelatase gene DOID:13271 cutaneous porphyria ISO RGD:1316819 D RGD:9068941 20200609 RGD DNA:transitions, frameshift mutations:exon:multiple (human) PMID:8601739|REF_RGD_ID:1598932 11990425 FECH ferrochelatase gene DOID:13271 cutaneous porphyria ISO RGD:1316819 D RGD:9068941 20200609 RGD protein:decreased activity:skin fibroblast, liver (human) PMID:1184741|REF_RGD_ID:4145285 11990425 FECH ferrochelatase gene DOID:234 colon adenocarcinoma ISO RGD:1316819 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon PMID:28075030|REF_RGD_ID:14700888 11990425 FECH ferrochelatase gene DOID:4138 bile duct disease ISO RGD:1316819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10464147 11990425 FECH ferrochelatase gene DOID:630 genetic disease ISO RGD:1316819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11990425 FECH ferrochelatase gene DOID:9000784 Fibrosis ISO RGD:1316819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10464147 11990425 FECH ferrochelatase gene DOID:9004435 Erythropoietic Protoporphyria 1 ISO RGD:1316819 D RGD:7240710 20190327 OMIM 11990425 FECH ferrochelatase gene DOID:9004435 Erythropoietic Protoporphyria 1 ISO RGD:1316819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Increased erythrocyte protoporphyrin concentration | ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1 PMID:10431482|PMID:10942404|PMID:11753383|PMID:12063482|PMID:12601550|PMID:1376018|PMID:14669009|PMID:15286165|PMID:15574461|PMID:16199547|PMID:16385445|PMID:16844398|PMID:16958804|PMID:17196862|PMID:1729699|PMID:1755842|PMID:17576681|PMID:17711525|PMID:17875872|PMID:18758989|PMID:18787536|PMID:19298273|PMID:20105171|PMID:23016163|PMID:23364466|PMID:24033266|PMID:25741868|PMID:26280465|PMID:28054335|PMID:28093505|PMID:28492532|PMID:29941360|PMID:3047929|PMID:31304091|PMID:3940245|PMID:7541650|PMID:7910885|PMID:8151124|PMID:8242081|PMID:8276828|PMID:8481408|PMID:8500787|PMID:8601739|PMID:9536098|PMID:9585598|PMID:9649563 11990425 FECH ferrochelatase gene DOID:9004898 Jaundice ISO RGD:1316819 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Jaundice PMID:11753383|PMID:14669009|PMID:16385445|PMID:16958804|PMID:1729699|PMID:17875872|PMID:18758989|PMID:20105171|PMID:23016163|PMID:23364466|PMID:24033266|PMID:25741868|PMID:26280465|PMID:28054335|PMID:28093505|PMID:28492532|PMID:29941360|PMID:31304091 11990425 FECH ferrochelatase gene DOID:9005584 Hepatic Porphyrias ISO RGD:1307556 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:6721832|REF_RGD_ID:4144806 11990425 FECH ferrochelatase gene DOID:9009003 Erythropoietic Protoporphyria 2 ISO RGD:1316819 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal erythropoietic protoporphyria PMID:11753383|PMID:14669009|PMID:16385445|PMID:16958804|PMID:1729699|PMID:17875872|PMID:18758989|PMID:20105171|PMID:23016163|PMID:23364466|PMID:24033266|PMID:25741868|PMID:26280465|PMID:28054335|PMID:28093505|PMID:28492532|PMID:29941360|PMID:31304091 11990448 HMGB2 high mobility group box 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1605728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24366584|PMID:27602772 11990448 HMGB2 high mobility group box 2 gene DOID:630 genetic disease ISO RGD:1605728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11990448 HMGB2 high mobility group box 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1605728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20851854 11990448 HMGB2 high mobility group box 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29877212 11990448 HMGB2 high mobility group box 2 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1605728 D RGD:9068941 20200609 RGD mRNA:decreased expression:articular cartilage PMID:19139395|REF_RGD_ID:10402184 11990448 HMGB2 high mobility group box 2 gene DOID:9002331 Knee Osteoarthritis severity ISO RGD:736524 D RGD:9068941 20200609 RGD PMID:19139395|REF_RGD_ID:10402184 11990448 HMGB2 high mobility group box 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11990448 HMGB2 high mobility group box 2 gene DOID:9006205 Animal Disease Models ISO RGD:1605728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11990448 HMGB2 high mobility group box 2 gene DOID:9970 obesity ISO RGD:1605728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:0050563 nonsyndromic deafness ISO RGD:731649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:16648378|PMID:17492394|PMID:18544103|PMID:20301750|PMID:21917145|PMID:24033266|PMID:25741868|PMID:26346818|PMID:28492532|PMID:29529044|PMID:30311386|PMID:32567228 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:0050952 spastic ataxia ISO RGD:731649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:12955714|PMID:15605410|PMID:17603484|PMID:18060660|PMID:20301750|PMID:20738327|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:33879153 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:0080584 autosomal dominant Wolfram syndrome ISO RGD:731649 D RGD:7240710 20180130 OMIM 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:0080584 autosomal dominant Wolfram syndrome ISO RGD:731649 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION | ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant PMID:10521293|PMID:10679252|PMID:11244483|PMID:11295831|PMID:11709537|PMID:11709538|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12955714|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15912360|PMID:16151413|PMID:16648378|PMID:16806192|PMID:17492394|PMID:17603484|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18688868|PMID:19042979|PMID:19292454|PMID:19877185|PMID:20028947|PMID:20069065|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21143470|PMID:21446023|PMID:21538838|PMID:21602428|PMID:21917145|PMID:22238590|PMID:23429432|PMID:23981289|PMID:24033266|PMID:24890733|PMID:24909696|PMID:25048417|PMID:25133958|PMID:25211237|PMID:25262649|PMID:25388789|PMID:25497598|PMID:25741868|PMID:25895475|PMID:26025012|PMID:26284228|PMID:26346818|PMID:26435059|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27217304|PMID:27395765|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28432734|PMID:28468959|PMID:28492532|PMID:28559085|PMID:28802351|PMID:29529044|PMID:29563951|PMID:29632382|PMID:30180840|PMID:30311386|PMID:30773290|PMID:31264968|PMID:31313226|PMID:31600780|PMID:32219690|PMID:32567228|PMID:32883240|PMID:33046911|PMID:33841295|PMID:33879153|PMID:34746052 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:0110241 cataract 41 ISO RGD:731649 D RGD:7240710 20180130 OMIM 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:0110241 cataract 41 ISO RGD:731649 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CATARACT 41, CONGENITAL NUCLEAR TYPE | ClinVar Annotator: match by term: Cataract 41 PMID:10521293|PMID:10679252|PMID:11244483|PMID:11260218|PMID:11295831|PMID:11709537|PMID:11709538|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12707373|PMID:12754709|PMID:12955714|PMID:15151504|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15912360|PMID:16151413|PMID:16806192|PMID:17492394|PMID:17568405|PMID:17576681|PMID:17603484|PMID:18040659|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18688868|PMID:19042979|PMID:19292454|PMID:20028947|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21356526|PMID:21446023|PMID:21538838|PMID:21564155|PMID:21602428|PMID:23429432|PMID:23531866|PMID:23981289|PMID:24033266|PMID:24088041|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25262649|PMID:25388789|PMID:25497598|PMID:25542043|PMID:25714468|PMID:25741868|PMID:25895475|PMID:26025012|PMID:26284228|PMID:26435059|PMID:26467025|PMID:26633545|PMID:26969326|PMID:27068579|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28271504|PMID:28432734|PMID:28492532|PMID:28559085|PMID:28802351|PMID:29529044|PMID:29563951|PMID:29632382|PMID:30180840|PMID:30311386|PMID:30663027|PMID:30773290|PMID:31264968|PMID:31313226|PMID:31363008|PMID:31521625|PMID:31567480|PMID:31600780|PMID:31638168|PMID:32179840|PMID:32700054|PMID:32883240|PMID:33046911|PMID:33297549|PMID:33841295|PMID:33879153|PMID:34404380|PMID:34746052|PMID:9536098|PMID:9771706|PMID:9817917|PMID:9856492 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:0110584 autosomal dominant nonsyndromic deafness 6 ISO RGD:731649 D RGD:7240710 20180130 OMIM 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:0110584 autosomal dominant nonsyndromic deafness 6 ISO RGD:731649 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38 PMID:10521293|PMID:10624825|PMID:10679252|PMID:10760554|PMID:11161832|PMID:11244483|PMID:11295831|PMID:11317350|PMID:11694551|PMID:11709537|PMID:11709538|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12181639|PMID:12490066|PMID:12565131|PMID:12782971|PMID:12955714|PMID:15008830|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15852062|PMID:15912360|PMID:16151413|PMID:16408729|PMID:16648378|PMID:16806192|PMID:17492394|PMID:17517145|PMID:17576681|PMID:17603484|PMID:18040659|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18688868|PMID:18806274|PMID:19042979|PMID:19292454|PMID:19877185|PMID:20028947|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21127832|PMID:21143470|PMID:21446023|PMID:21538838|PMID:21602428|PMID:21917145|PMID:22238590|PMID:22938506|PMID:23257691|PMID:23429432|PMID:23535966|PMID:23595122|PMID:23845777|PMID:23856252|PMID:23981289|PMID:23990876|PMID:24033266|PMID:24875298|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25262649|PMID:25388789|PMID:25392243|PMID:25497598|PMID:25741868|PMID:25842391|PMID:25895475|PMID:26025012|PMID:26064370|PMID:26284228|PMID:26346818|PMID:26435059|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27185633|PMID:27395765|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28432734|PMID:28492532|PMID:28559085|PMID:28802351|PMID:28870582|PMID:28974383|PMID:28993341|PMID:29529044|PMID:29563951|PMID:29632382|PMID:29988211|PMID:30180840|PMID:30311386|PMID:30773290|PMID:31264968|PMID:31313226|PMID:31363008|PMID:31600780|PMID:31765440|PMID:32567228|PMID:32883240|PMID:33046911|PMID:33841295|PMID:33879153|PMID:34737607|PMID:34746052|PMID:34803393|PMID:35469785|PMID:35472603|PMID:8595423|PMID:9536098|PMID:9817917 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:0110629 Wolfram syndrome 1 ISO RGD:731649 D RGD:7240710 20180919 OMIM 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:0110629 Wolfram syndrome 1 ISO RGD:731649 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 | ClinVar Annotator: match by term: Wolfram syndrome 1 PMID:10521293|PMID:10624825|PMID:10679252|PMID:10760554|PMID:11161832|PMID:11244483|PMID:11260218|PMID:11295831|PMID:11317350|PMID:1161832|PMID:11694551|PMID:11709537|PMID:11709538|PMID:11811080|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12565131|PMID:12754709|PMID:12782971|PMID:12913071|PMID:12955714|PMID:15008830|PMID:15151504|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15852062|PMID:15912360|PMID:16151413|PMID:16195229|PMID:16199547|PMID:16648378|PMID:16806192|PMID:17492394|PMID:17517145|PMID:17568405|PMID:17576681|PMID:17603484|PMID:18040659|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18660851|PMID:18688868|PMID:18806274|PMID:19042979|PMID:19292454|PMID:19344068|PMID:19877185|PMID:20028947|PMID:20160352|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21127832|PMID:21143470|PMID:21446023|PMID:21454619|PMID:21538838|PMID:21602428|PMID:21917145|PMID:22226368|PMID:22238590|PMID:22662265|PMID:22797899|PMID:22938506|PMID:23257691|PMID:23429432|PMID:23535966|PMID:23595122|PMID:23596069|PMID:23845777|PMID:23856252|PMID:23981289|PMID:23990876|PMID:24033266|PMID:24088041|PMID:24117146|PMID:24227685|PMID:24424032|PMID:24497219|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25173644|PMID:25211237|PMID:25250959|PMID:25262649|PMID:25388789|PMID:25392243|PMID:25497598|PMID:25714468|PMID:25741868|PMID:25842391|PMID:25895475|PMID:26025012|PMID:26284228|PMID:26346818|PMID:26435059|PMID:26467025|PMID:26633545|PMID:26773575|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27185633|PMID:27395765|PMID:27434582|PMID:27468121|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28432734|PMID:28468959|PMID:28492532|PMID:28502252|PMID:28559085|PMID:28802351|PMID:28870582|PMID:28993341|PMID:29048421|PMID:29183106|PMID:29207974|PMID:29447883|PMID:29529044|PMID:29563951|PMID:29632382|PMID:30014265|PMID:30180840|PMID:30311386|PMID:30773290|PMID:30957632|PMID:31264968|PMID:31266054|PMID:31313226|PMID:31343797|PMID:31363008|PMID:31391115|PMID:31521625|PMID:31567480|PMID:31600780|PMID:31604968|PMID:31759989|PMID:31765440|PMID:31850070|PMID:32141364|PMID:32179840|PMID:32382995|PMID:32567228|PMID:32883240|PMID:33046911|PMID:33116287|PMID:33538814|PMID:33841295|PMID:3387915|PMID:33879153|PMID:34258273|PMID:34737607|PMID:34746052|PMID:34803393|PMID:34970515|PMID:8808601|PMID:9536098|PMID:9771706|PMID:9817917|PMID:9856492 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:731649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10521293|PMID:10679252|PMID:11161832|PMID:11244483|PMID:1161832|PMID:11709537|PMID:11709538|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12955714|PMID:15151504|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15912360|PMID:16151413|PMID:16806192|PMID:17492394|PMID:17603484|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18688868|PMID:19042979|PMID:19292454|PMID:20028947|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21446023|PMID:21538838|PMID:21602428|PMID:22238590|PMID:23257691|PMID:23429432|PMID:23981289|PMID:24033266|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25262649|PMID:25388789|PMID:25497598|PMID:25741868|PMID:25895475|PMID:26025012|PMID:26064370|PMID:26284228|PMID:26435059|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28432734|PMID:28492532|PMID:28559085|PMID:28802351|PMID:29529044|PMID:29563951|PMID:29632382|PMID:29988211|PMID:30180840|PMID:30311386|PMID:30773290|PMID:31264968|PMID:31313226|PMID:31600780|PMID:32141364|PMID:32883240|PMID:33046911|PMID:33841295|PMID:33879153|PMID:34746052 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:731649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10521293|PMID:10679252|PMID:11161832|PMID:11244483|PMID:11295831|PMID:1161832|PMID:11709537|PMID:11709538|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12955714|PMID:15151504|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15912360|PMID:16151413|PMID:16806192|PMID:17492394|PMID:17603484|PMID:18040659|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18688868|PMID:19042979|PMID:19292454|PMID:20028947|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21143470|PMID:21446023|PMID:21538838|PMID:21602428|PMID:22238590|PMID:23257691|PMID:23429432|PMID:23981289|PMID:24033266|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25262649|PMID:25388789|PMID:25497598|PMID:25714468|PMID:25741868|PMID:25895475|PMID:26025012|PMID:26064370|PMID:26284228|PMID:26435059|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28432734|PMID:28492532|PMID:28559085|PMID:28802351|PMID:29529044|PMID:29563951|PMID:29632382|PMID:29988211|PMID:30180840|PMID:30311386|PMID:30773290|PMID:31264968|PMID:31313226|PMID:31521625|PMID:31600780|PMID:31604968|PMID:31759989|PMID:32141364|PMID:32179840|PMID:32883240|PMID:33046911|PMID:33116287|PMID:33841295|PMID:33879153|PMID:34404380|PMID:34746052|PMID:9856492 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:0111441 optic atrophy 1 ISO RGD:731649 D RGD:9068941 20200609 RGD DNA:missense mutations, deletion:multiple PMID:21538838|REF_RGD_ID:7800683 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:10003 sensorineural hearing loss ISO RGD:731649 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss PMID:12107816|PMID:22238590|PMID:24033266|PMID:25741868|PMID:28492532 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:10603 glucose intolerance treatment ISO XCO:0000907 D RGD:9068941 20211022 RGD PMID:29976929|REF_RGD_ID:150519890 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:10632 Wolfram syndrome ISO RGD:731649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness | ClinVar Annotator: match by term: Wolfram syndrome PMID:10521293|PMID:11161832|PMID:11244483|PMID:1161832|PMID:12754709|PMID:12955714|PMID:15151504|PMID:15277431|PMID:16806192|PMID:17568405|PMID:17603484|PMID:18060660|PMID:19344068|PMID:20301750|PMID:20738327|PMID:21446023|PMID:21602428|PMID:22226368|PMID:22238590|PMID:23429432|PMID:23596069|PMID:24033266|PMID:24890733|PMID:25133958|PMID:25741868|PMID:26435059|PMID:26875006|PMID:27395765|PMID:28432734|PMID:28492532|PMID:29207974|PMID:30014265|PMID:30773290|PMID:30957632|PMID:31567480|PMID:32141364|PMID:33879153 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:11832 visual epilepsy treatment ISO RGD:68954 D RGD:9068941 20200609 RGD PMID:19799711|REF_RGD_ID:8694408 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:12849 autistic disorder ISO RGD:731649 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:12955714|PMID:17603484|PMID:18060660|PMID:20301750|PMID:20738327|PMID:25741868|PMID:26435059|PMID:26969326|PMID:28492532|PMID:29529044|PMID:32883240|PMID:33879153 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:2055 post-traumatic stress disorder treatment ISO RGD:68954 D RGD:9068941 20200609 RGD PMID:17968352|REF_RGD_ID:8694407 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:2785 Dandy-Walker syndrome ISO RGD:731649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:10521293|PMID:17568405|PMID:18700423|PMID:20888932|PMID:25741868 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:5723 optic atrophy ISO RGD:731649 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R456H (rs1801206) (human) PMID:23595122|REF_RGD_ID:8694404 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:630 genetic disease ISO RGD:731649 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10521293|PMID:11161832|PMID:11295831|PMID:11317350|PMID:11709537|PMID:11811080|PMID:11920861|PMID:12073007|PMID:12707373|PMID:12913071|PMID:12955714|PMID:17492394|PMID:17568405|PMID:17603484|PMID:18040659|PMID:18060660|PMID:18700423|PMID:19042979|PMID:19877185|PMID:20301750|PMID:20738327|PMID:20875904|PMID:20888932|PMID:21067485|PMID:21143470|PMID:21538838|PMID:21602428|PMID:22238590|PMID:23429432|PMID:23990876|PMID:24033266|PMID:24875298|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25173644|PMID:25211237|PMID:25714468|PMID:25741868|PMID:26435059|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27395765|PMID:27468121|PMID:28432734|PMID:28492532|PMID:29048421|PMID:29529044|PMID:29563951|PMID:30180840|PMID:30311386|PMID:30957632|PMID:31264968|PMID:31343797|PMID:31363008|PMID:31391115|PMID:31521625|PMID:31600780|PMID:31765440|PMID:31850070|PMID:32883240|PMID:33046911|PMID:33841295|PMID:33879153|PMID:34404380|PMID:35469785|PMID:35472603|PMID:9856492 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:6678 tooth and nail syndrome ISO RGD:731649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:14630905|PMID:28492532|PMID:9742121 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:83 cataract ISO RGD:731649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:83 cataract onset ISO RGD:68954 D RGD:9068941 20210806 RGD PMID:28860598|REF_RGD_ID:149735331 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:9000053 Headache ISO RGD:731649 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.H611R (human) PMID:17719176|REF_RGD_ID:8694403 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:9004538 Hearing Loss ISO RGD:731649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:11161832|PMID:11317350|PMID:12073007|PMID:15605410|PMID:22238590|PMID:23429432|PMID:24033266|PMID:24890733|PMID:24909696|PMID:25048417|PMID:25211237|PMID:25741868|PMID:27395765|PMID:28492532|PMID:29563951|PMID:30311386|PMID:31343797|PMID:31391115|PMID:31765440|PMID:31850070 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:731649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:12955714|PMID:17603484|PMID:18060660|PMID:20301750|PMID:20738327|PMID:21446023|PMID:21602428|PMID:24033266|PMID:28492532|PMID:33879153 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:9351 diabetes mellitus ISO RGD:731649 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:10521293|PMID:10624825|PMID:10679252|PMID:11161832|PMID:11244483|PMID:11295831|PMID:11317350|PMID:11694551|PMID:11709537|PMID:11709538|PMID:11811080|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12565131|PMID:12707373|PMID:12754709|PMID:12782971|PMID:12913071|PMID:12955714|PMID:15008830|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15852062|PMID:17492394|PMID:17568405|PMID:17603484|PMID:18060660|PMID:18414213|PMID:18544103|PMID:19042979|PMID:19292454|PMID:19344068|PMID:20028947|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21446023|PMID:21602428|PMID:22226368|PMID:22238590|PMID:22797899|PMID:23429432|PMID:23595122|PMID:23596069|PMID:23981289|PMID:24033266|PMID:24497219|PMID:24875298|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25173644|PMID:25211237|PMID:25262649|PMID:25497598|PMID:25741868|PMID:25842391|PMID:25895475|PMID:26025012|PMID:26435059|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27395765|PMID:27468121|PMID:27617222|PMID:28432734|PMID:28492532|PMID:28502252|PMID:28559085|PMID:29207974|PMID:29529044|PMID:29563951|PMID:30014265|PMID:30180840|PMID:30311386|PMID:30957632|PMID:31264968|PMID:31343797|PMID:31391115|PMID:31567480|PMID:31600780|PMID:31638168|PMID:31765440|PMID:31850070|PMID:32179840|PMID:33046911|PMID:33538814|PMID:33841295|PMID:33879153|PMID:34404380|PMID:34746052|PMID:35469785|PMID:35472603 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:9351 diabetes mellitus onset ISO RGD:68954 D RGD:9068941 20210806 RGD PMID:28860598|REF_RGD_ID:149735331 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:9352 type 2 diabetes mellitus ISO RGD:731649 D RGD:7240710 20180130 OMIM 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:9352 type 2 diabetes mellitus ISO RGD:731649 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST | ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus PMID:10521293|PMID:10679252|PMID:11161832|PMID:11244483|PMID:1161832|PMID:11709537|PMID:11709538|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12955714|PMID:15151504|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:16151413|PMID:16806192|PMID:17492394|PMID:17603484|PMID:18040659|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18688868|PMID:19042979|PMID:19292454|PMID:20028947|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21446023|PMID:21538838|PMID:21602428|PMID:22238590|PMID:23257691|PMID:23429432|PMID:23981289|PMID:24033266|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25262649|PMID:25326637|PMID:25388789|PMID:25497598|PMID:25714468|PMID:25741868|PMID:25895475|PMID:26025012|PMID:26064370|PMID:26284228|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28432734|PMID:28492532|PMID:28559085|PMID:28802351|PMID:29529044|PMID:29632382|PMID:29988211|PMID:30311386|PMID:30773290|PMID:31264968|PMID:31313226|PMID:31521625|PMID:31600780|PMID:31604968|PMID:31759989|PMID:32141364|PMID:32179840|PMID:33116287|PMID:33879153|PMID:34746052|PMID:9856492 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:9352 type 2 diabetes mellitus ISO RGD:731649 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus PMID:10521293|PMID:10679252|PMID:11161832|PMID:11244483|PMID:11295831|PMID:1161832|PMID:11709537|PMID:11709538|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12955714|PMID:15151504|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15912360|PMID:16151413|PMID:16806192|PMID:17492394|PMID:17603484|PMID:18040659|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18688868|PMID:19042979|PMID:19292454|PMID:20028947|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21143470|PMID:21446023|PMID:21538838|PMID:21602428|PMID:22238590|PMID:23257691|PMID:23429432|PMID:23981289|PMID:24033266|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25262649|PMID:25388789|PMID:25497598|PMID:25714468|PMID:25741868|PMID:25895475|PMID:26025012|PMID:26064370|PMID:26284228|PMID:26435059|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28432734|PMID:28492532|PMID:28559085|PMID:28802351|PMID:29529044|PMID:29563951|PMID:29632382|PMID:29988211|PMID:30180840|PMID:30311386|PMID:30773290|PMID:31264968|PMID:31313226|PMID:31521625|PMID:31600780|PMID:31604968|PMID:31759989|PMID:32141364|PMID:32179840|PMID:32883240|PMID:33046911|PMID:33116287|PMID:33841295|PMID:33879153|PMID:34404380|PMID:34746052|PMID:9856492 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:731649 D RGD:9068941 20200609 RGD DNA:SNPs: :rs734312, rs752854, rs10010131 (human) PMID:18060660|REF_RGD_ID:8694399 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:731649 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs734312, rs752854, rs10010131 (human) PMID:21713316|REF_RGD_ID:8694400 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:9744 type 1 diabetes mellitus ISO RGD:731649 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.R456H (human) PMID:10679252|REF_RGD_ID:8694402 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:9744 type 1 diabetes mellitus ISO RGD:731650 D RGD:9068941 20200609 RGD PMID:15056606|REF_RGD_ID:8694393 11990460 WFS1 wolframin ER transmembrane glycoprotein gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:731649 D RGD:9068941 20200609 RGD DNA:mutations:exons, 5' utr, 3' utr:multiple PMID:15008830|REF_RGD_ID:8694396 11990480 GPRASP3 G protein-coupled receptor associated sorting protein family member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11990480 GPRASP3 G protein-coupled receptor associated sorting protein family member 3 gene DOID:12849 autistic disorder ISO RGD:1347976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11990480 GPRASP3 G protein-coupled receptor associated sorting protein family member 3 gene DOID:630 genetic disease ISO RGD:1347976 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11990510 RELT RELT TNF receptor gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1313376 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11990510 RELT RELT TNF receptor gene DOID:0111722 amelogenesis imperfecta type 3C ISO RGD:1313376 D RGD:7240710 20190424 OMIM 11990510 RELT RELT TNF receptor gene DOID:0111722 amelogenesis imperfecta type 3C ISO RGD:1313376 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3c PMID:28492532|PMID:30506946|PMID:32052416 11990510 RELT RELT TNF receptor gene DOID:1059 intellectual disability ISO RGD:1313376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11990510 RELT RELT TNF receptor gene DOID:630 genetic disease ISO RGD:1313376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11990528 AARS1 alanyl-tRNA synthetase 1 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1312500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I 11990528 AARS1 alanyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:17576681|PMID:20045102|PMID:22009580|PMID:22206013|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25783436|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27164712|PMID:27549087|PMID:27993330|PMID:28166811|PMID:28492532|PMID:28493438|PMID:29653220|PMID:30124830|PMID:30373780|PMID:32314272|PMID:33909043|PMID:9536098 11990528 AARS1 alanyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312500 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:16199547|PMID:17576681|PMID:20045102|PMID:22009580|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25326637|PMID:25741868|PMID:25783436|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27164712|PMID:27549087|PMID:27993330|PMID:28492532|PMID:28493438|PMID:29653220|PMID:30124830|PMID:30373780|PMID:31791873|PMID:32314272|PMID:32376792|PMID:32403337|PMID:32571458|PMID:33294374|PMID:33909043|PMID:9536098 11990528 AARS1 alanyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312500 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:16199547|PMID:17576681|PMID:20045102|PMID:22009580|PMID:22206013|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27164712|PMID:27549087|PMID:27993330|PMID:28166811|PMID:28492532|PMID:28493438|PMID:28902413|PMID:29653220|PMID:30124830|PMID:30373780|PMID:31791873|PMID:31827005|PMID:32314272|PMID:32376792|PMID:32571458|PMID:33294374|PMID:33753480|PMID:33909043|PMID:34446925|PMID:6492094|PMID:9536098 11990528 AARS1 alanyl-tRNA synthetase 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1312500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11990528 AARS1 alanyl-tRNA synthetase 1 gene DOID:0080451 developmental and epileptic encephalopathy 29 ISO RGD:1312500 D RGD:7240710 20180130 OMIM 11990528 AARS1 alanyl-tRNA synthetase 1 gene DOID:0080451 developmental and epileptic encephalopathy 29 ISO RGD:1312500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 29 PMID:25741868|PMID:25817015|PMID:28492532|PMID:28493438|PMID:29653220|PMID:31791873|PMID:33294374 11990528 AARS1 alanyl-tRNA synthetase 1 gene DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ISO RGD:1312500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids PMID:31775912|PMID:6595937 11990528 AARS1 alanyl-tRNA synthetase 1 gene DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N ISO RGD:1312500 D RGD:7240710 20180130 OMIM 11990528 AARS1 alanyl-tRNA synthetase 1 gene DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N ISO RGD:1312500 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2N PMID:17576681|PMID:20045102|PMID:22009580|PMID:22206013|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25741868|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27993330|PMID:28492532|PMID:28902413|PMID:29653220|PMID:30124830|PMID:31827005|PMID:32314272|PMID:32376792|PMID:9536098 11990528 AARS1 alanyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1312500 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:17576681|PMID:20045102|PMID:22009580|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25783436|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27549087|PMID:28492532|PMID:29653220|PMID:32314272|PMID:32376792|PMID:32403337|PMID:33294374|PMID:9536098 11990528 AARS1 alanyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1312500 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:17576681|PMID:20045102|PMID:22009580|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27549087|PMID:28492532|PMID:29653220|PMID:30124830|PMID:32314272|PMID:32376792|PMID:33294374|PMID:33753480|PMID:9536098 11990528 AARS1 alanyl-tRNA synthetase 1 gene DOID:11836 clubfoot ISO RGD:1312500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:25741868 11990528 AARS1 alanyl-tRNA synthetase 1 gene DOID:12377 spinal muscular atrophy ISO RGD:1312500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:28492532 11990528 AARS1 alanyl-tRNA synthetase 1 gene DOID:574 peripheral nervous system disease ISO RGD:1312500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:27993330|PMID:28492532|PMID:29653220|PMID:30124830|PMID:31827005 11990528 AARS1 alanyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1312500 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:22009580|PMID:22206013|PMID:25025039|PMID:25741868|PMID:25817015|PMID:26257172|PMID:26752306|PMID:27993330|PMID:28166811|PMID:28492532|PMID:28902413|PMID:29653220|PMID:30124830|PMID:30373780|PMID:31827005|PMID:32376792|PMID:33294374|PMID:9536098 11990528 AARS1 alanyl-tRNA synthetase 1 gene DOID:870 neuropathy ISO RGD:1312500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:27993330|PMID:28492532|PMID:29653220|PMID:30124830|PMID:31827005 11990528 AARS1 alanyl-tRNA synthetase 1 gene DOID:9002363 Nonphotosensitive Trichothiodystrophy 8 ISO RGD:1312500 D RGD:7240710 20220112 OMIM 11990528 AARS1 alanyl-tRNA synthetase 1 gene DOID:9002363 Nonphotosensitive Trichothiodystrophy 8 ISO RGD:1312500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 8, nonphotosensitive PMID:28492532|PMID:33909043|PMID:6492094 11990528 AARS1 alanyl-tRNA synthetase 1 gene DOID:9008175 Hereditary Diffuse Leukoencephalopathy with Spheroids 2 ISO RGD:1312500 D RGD:7240710 20220112 OMIM 11990528 AARS1 alanyl-tRNA synthetase 1 gene DOID:9008175 Hereditary Diffuse Leukoencephalopathy with Spheroids 2 ISO RGD:1312500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy, hereditary diffuse, with spheroids 2 PMID:31775912|PMID:6595937 11990553 MVD mevalonate diphosphate decarboxylase gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:736074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:23910690|PMID:28492532 11990553 MVD mevalonate diphosphate decarboxylase gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:736074 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11990553 MVD mevalonate diphosphate decarboxylase gene DOID:14780 KBG syndrome ISO RGD:736074 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 11990553 MVD mevalonate diphosphate decarboxylase gene DOID:3805 porokeratosis ISO RGD:736074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Linear porokeratosis PMID:30942823|PMID:33005717 11990553 MVD mevalonate diphosphate decarboxylase gene DOID:630 genetic disease ISO RGD:736074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11990553 MVD mevalonate diphosphate decarboxylase gene DOID:9000411 Porokeratosis 7, Multiple Types ISO RGD:736074 D RGD:7240710 20180130 OMIM 11990553 MVD mevalonate diphosphate decarboxylase gene DOID:9000411 Porokeratosis 7, Multiple Types ISO RGD:736074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Porokeratosis 7, multiple types PMID:21161278|PMID:25741868|PMID:26202976 11990553 MVD mevalonate diphosphate decarboxylase gene DOID:9000808 Hypercholesterolemia ISO RGD:736075 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:25168180|REF_RGD_ID:13782271 11990553 MVD mevalonate diphosphate decarboxylase gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:736074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 11990567 CRISPLD1 cysteine rich secretory protein LCCL domain containing 1 gene DOID:630 genetic disease ISO RGD:1605927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11990590 CNN3 calponin 3 gene DOID:305 carcinoma ISO RGD:731963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11990590 CNN3 calponin 3 gene DOID:630 genetic disease ISO RGD:731963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11990590 CNN3 calponin 3 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11990590 CNN3 calponin 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11990590 CNN3 calponin 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11990601 MCC MCC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:1351997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8071957 11990601 MCC MCC regulator of WNT signaling pathway gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1351997 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11990601 MCC MCC regulator of WNT signaling pathway gene DOID:10283 prostate cancer ISO RGD:1351997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11990601 MCC MCC regulator of WNT signaling pathway gene DOID:1059 intellectual disability ISO RGD:1351997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8071957 11990601 MCC MCC regulator of WNT signaling pathway gene DOID:12849 autistic disorder ISO RGD:1351997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8071957 11990601 MCC MCC regulator of WNT signaling pathway gene DOID:1520 colon carcinoma ISO RGD:1351997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon 11990601 MCC MCC regulator of WNT signaling pathway gene DOID:1984 rectal benign neoplasm ISO RGD:1351997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8071957 11990601 MCC MCC regulator of WNT signaling pathway gene DOID:630 genetic disease ISO RGD:1351997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11990601 MCC MCC regulator of WNT signaling pathway gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11990601 MCC MCC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1351997 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11990601 MCC MCC regulator of WNT signaling pathway gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351997 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 11990601 MCC MCC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:1351997 D RGD:7240710 20200226 OMIM 11990622 HJV hemojuvelin BMP co-receptor gene DOID:0111027 hemochromatosis type 2A ISO RGD:1320952 D RGD:7240710 20190315 OMIM 11990622 HJV hemojuvelin BMP co-receptor gene DOID:0111027 hemochromatosis type 2A ISO RGD:1320952 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 2A PMID:12482411|PMID:12891378|PMID:14647275|PMID:14982867|PMID:14982873|PMID:15138164|PMID:15194541|PMID:15254010|PMID:15461631|PMID:15610558|PMID:15710580|PMID:15775751|PMID:15811010|PMID:16103117|PMID:17339196|PMID:17490902|PMID:17726683|PMID:17938254|PMID:18492090|PMID:18827264|PMID:18976966|PMID:19796184|PMID:19907145|PMID:20301349|PMID:21411349|PMID:21901660|PMID:22408404|PMID:24033266|PMID:25741868|PMID:26151776|PMID:26633544|PMID:27753142|PMID:28363629|PMID:28492532|PMID:29764732|PMID:30166352|PMID:30195625|PMID:30389309|PMID:32824233|PMID:34946929 11990622 HJV hemojuvelin BMP co-receptor gene DOID:0111029 hemochromatosis type 1 ISO RGD:1320952 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 1 PMID:12891378|PMID:14647275|PMID:14982867|PMID:14982873|PMID:15138164|PMID:15254010|PMID:15610558|PMID:15811010|PMID:16103117|PMID:17339196|PMID:18827264|PMID:19796184|PMID:22408404|PMID:24033266|PMID:25741868|PMID:28492532 11990622 HJV hemojuvelin BMP co-receptor gene DOID:0111034 hemochromatosis type 2 ISO RGD:1320952 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 2 | ClinVar Annotator: match by term: Juvenile hemochromatosis PMID:25741868|PMID:28492532|PMID:29764732 11990622 HJV hemojuvelin BMP co-receptor gene DOID:13580 cholestasis ISO RGD:1320952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 11990622 HJV hemojuvelin BMP co-receptor gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1320952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 11990622 HJV hemojuvelin BMP co-receptor gene DOID:1540 parathyroid carcinoma ISO RGD:1320952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11990622 HJV hemojuvelin BMP co-receptor gene DOID:2352 hemochromatosis ISO RGD:1320952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16868025|PMID:17255318|PMID:19252486|PMID:21411349 11990622 HJV hemojuvelin BMP co-receptor gene DOID:2352 hemochromatosis ISO RGD:1320952 D RGD:9068941 20200609 RGD juvenile hemochromatosis, type 2A, OMIM:602390 protein:substitution:CDS:G320V PMID:14647275|REF_RGD_ID:1599478 11990622 HJV hemojuvelin BMP co-receptor gene DOID:5419 schizophrenia ISO RGD:1320952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11990622 HJV hemojuvelin BMP co-receptor gene DOID:630 genetic disease ISO RGD:1320952 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11990622 HJV hemojuvelin BMP co-receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11990622 HJV hemojuvelin BMP co-receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11990641 RPUSD3 RNA pseudouridine synthase D3 gene DOID:2843 long QT syndrome ISO RGD:1351633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11990641 RPUSD3 RNA pseudouridine synthase D3 gene DOID:630 genetic disease ISO RGD:1351633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356970 11990641 RPUSD3 RNA pseudouridine synthase D3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11990641 RPUSD3 RNA pseudouridine synthase D3 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1351633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 11990689 CCDC115 coiled-coil domain containing 115 gene DOID:0070267 congenital disorder of glycosylation type IIo ISO RGD:1603946 D RGD:7240710 20190315 OMIM 11990689 CCDC115 coiled-coil domain containing 115 gene DOID:0070267 congenital disorder of glycosylation type IIo ISO RGD:1603946 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CCDC115-CDG PMID:24033266|PMID:25741868|PMID:26833330|PMID:26833332|PMID:28492532|PMID:29759592 11990689 CCDC115 coiled-coil domain containing 115 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1603946 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital disorders of glycosylation type II PMID:24033266|PMID:25741868|PMID:26833330|PMID:26833332|PMID:29759592 11990689 CCDC115 coiled-coil domain containing 115 gene DOID:630 genetic disease ISO RGD:1603946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11990715 LRRC8C leucine rich repeat containing 8 VRAC subunit C gene DOID:2377 multiple sclerosis ISO RGD:1604274 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 11990715 LRRC8C leucine rich repeat containing 8 VRAC subunit C gene DOID:630 genetic disease ISO RGD:1604274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11990733 ARF1 ADP ribosylation factor 1 gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:1353880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:28492532 11990733 ARF1 ADP ribosylation factor 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1353880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:12566280|PMID:24078732 11990733 ARF1 ADP ribosylation factor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1353880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11990733 ARF1 ADP ribosylation factor 1 gene DOID:2913 acute pancreatitis treatment ISO RGD:1553445 D RGD:9068941 20200609 RGD PMID:22570480|REF_RGD_ID:9684857 11990733 ARF1 ADP ribosylation factor 1 gene DOID:9002078 Periventricular Nodular Heterotopia 8 ISO RGD:1353880 D RGD:7240710 20190315 OMIM 11990733 ARF1 ADP ribosylation factor 1 gene DOID:9002078 Periventricular Nodular Heterotopia 8 ISO RGD:1353880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia 8 PMID:25741868|PMID:28868155 11990733 ARF1 ADP ribosylation factor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1353880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27517156 11990733 ARF1 ADP ribosylation factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1353880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27517156 11990733 ARF1 ADP ribosylation factor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11990757 LOC100970363 cytochrome c oxidase copper chaperone gene DOID:630 genetic disease ISO RGD:733581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11990757 LOC100970363 cytochrome c oxidase copper chaperone gene DOID:9005172 Lung Neoplasms ISO RGD:733581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23624903 11990757 LOC100970363 cytochrome c oxidase copper chaperone gene DOID:9008510 Chronic Hepatitis ISO RGD:733581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 11990764 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1558257 D RGD:9068941 20220825 MouseDO OMIM:300046 | OMIM:300047 | OMIM:300062 | OMIM:300114 | OMIM:300115 | OMIM:300143 | OMIM:300210 | OMIM:300271 | OMIM:300324 | OMIM:300355 | OMIM:300372 | OMIM:300387 | OMIM:300428 | OMIM:300433 | OMIM:300436 | OMIM:300454 | OMIM:300498 | OMIM:300505 | OMIM:300518 | OMIM:300558 | OMIM:300577 | OMIM:300659 | OMIM:300716 | OMIM:300802 | OMIM:300803 | OMIM:300844 | OMIM:300848 | OMIM:300849 | OMIM:300850 | OMIM:300851 | OMIM:300852 | OMIM:300912 | OMIM:300919 | OMIM:300923 | OMIM:309530 | OMIM:309549 11990764 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1353175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30763456 11990764 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1353175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy PMID:25741868 11990764 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11990764 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1353175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome | ClinVar Annotator: match by term: Cornelia de Lange syndrome 2 PMID:19052029|PMID:23683030|PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 11990764 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0111844 X-linked intellectual developmental disorder 108 ISO RGD:1353175 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 108 PMID:25741868 11990764 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0112038 non-syndromic X-linked intellectual disability 1 ISO RGD:1353175 D RGD:7240710 20180130 OMIM 11990764 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0112038 non-syndromic X-linked intellectual disability 1 ISO RGD:1353175 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 1 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 18 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 78 PMID:12210308|PMID:15197169|PMID:15669143|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19052029|PMID:19344873|PMID:19481195|PMID:20473311|PMID:21686261|PMID:23020937|PMID:23674175|PMID:23683030|PMID:23934111|PMID:24306141|PMID:24759409|PMID:25649377|PMID:25741868|PMID:25914188|PMID:26059843|PMID:26467025|PMID:26539891|PMID:26544041|PMID:26633542|PMID:2673329|PMID:26733290|PMID:26793055|PMID:26795593|PMID:27009485|PMID:27062609|PMID:27369185|PMID:27535533|PMID:27652284|PMID:27665735|PMID:27864847|PMID:28220259|PMID:28295041|PMID:28492532|PMID:28815955|PMID:29026562|PMID:29100083|PMID:29302074|PMID:29322350|PMID:29720203|PMID:30206421|PMID:30328660|PMID:30666632|PMID:30842726|PMID:31415821|PMID:31512412|PMID:3177466|PMID:32005694|PMID:33368194|PMID:33624935|PMID:33753861|PMID:34906502|PMID:7943039|PMID:8236453|PMID:9536098|PMID:9628581 11990764 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0112081 nuclear type mitochondrial complex I deficiency 8 ISO RGD:1353175 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 PMID:25741868 11990764 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:1059 intellectual disability ISO RGD:1353175 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:19481195|PMID:20473311|PMID:21686261|PMID:25167861|PMID:25741868|PMID:26633542|PMID:26793055|PMID:27665735|PMID:28492532|PMID:28815955|PMID:30666632|PMID:3177466|PMID:33368194 11990764 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:10907 microcephaly ISO RGD:1353175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11990764 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:12849 autistic disorder ISO RGD:1353175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11990764 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:1826 epilepsy ISO RGD:1353175 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11990764 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:607 paraplegia ISO RGD:1353175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11990764 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:630 genetic disease ISO RGD:1353175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15197169|PMID:15669143|PMID:17576681|PMID:18414213|PMID:19344873|PMID:20473311|PMID:21686261|PMID:23020937|PMID:23674175|PMID:23934111|PMID:24306141|PMID:25741868|PMID:25914188|PMID:26467025|PMID:26539891|PMID:26544041|PMID:2673329|PMID:26733290|PMID:26793055|PMID:26795593|PMID:27009485|PMID:27535533|PMID:27665735|PMID:27864847|PMID:28220259|PMID:28295041|PMID:28492532|PMID:28815955|PMID:29302074|PMID:29322350|PMID:29720203|PMID:30206421|PMID:3177466|PMID:7943039|PMID:8166633|PMID:8236453|PMID:9536098|PMID:9628581 11990764 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:8927 learning disability ISO RGD:1353175 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Specific learning disability PMID:25741868 11990764 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353175 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11990764 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:9004603 Atkin Syndrome ISO RGD:1353175 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome | ClinVar Annotator: match by term: Mental retardation, X-linked, nonspecific PMID:12210308|PMID:15197169|PMID:15669143|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19052029|PMID:19344873|PMID:19481195|PMID:20473311|PMID:21686261|PMID:23020937|PMID:23674175|PMID:23683030|PMID:23934111|PMID:24306141|PMID:24759409|PMID:25649377|PMID:25741868|PMID:25914188|PMID:26059843|PMID:26467025|PMID:26539891|PMID:26544041|PMID:26633542|PMID:2673329|PMID:26733290|PMID:26793055|PMID:26795593|PMID:27009485|PMID:27062609|PMID:27369185|PMID:27535533|PMID:27652284|PMID:27665735|PMID:27864847|PMID:28220259|PMID:28295041|PMID:28492532|PMID:28815955|PMID:29026562|PMID:29100083|PMID:29302074|PMID:29322350|PMID:29720203|PMID:30206421|PMID:30328660|PMID:30666632|PMID:30842726|PMID:31415821|PMID:31512412|PMID:3177466|PMID:32005694|PMID:33368194|PMID:33624935|PMID:33753861|PMID:34906502|PMID:7943039|PMID:8236453|PMID:9536098|PMID:9628581 11990764 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1353175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20473311 11990764 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:9006598 Three M Syndrome 2 ISO RGD:1353175 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Three M syndrome 2 PMID:19481195|PMID:20473311|PMID:25741868|PMID:3177466 11990782 NPAS4 neuronal PAS domain protein 4 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:734007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:22219654|PMID:28492532 11990782 NPAS4 neuronal PAS domain protein 4 gene DOID:1059 intellectual disability ISO RGD:734007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11990782 NPAS4 neuronal PAS domain protein 4 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:734007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11990782 NPAS4 neuronal PAS domain protein 4 gene DOID:2746 glycogen storage disease V ISO RGD:734007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11990782 NPAS4 neuronal PAS domain protein 4 gene DOID:630 genetic disease ISO RGD:734007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11990782 NPAS4 neuronal PAS domain protein 4 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:734007 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11990782 NPAS4 neuronal PAS domain protein 4 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:734007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11990799 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:0050770 polycystic liver disease ISO RGD:1353787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 11990799 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:0080322 polycystic kidney disease ISO RGD:1353787 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type PMID:10405208|PMID:10411676|PMID:10417277|PMID:10497221|PMID:10541293|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16223735|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17576681|PMID:17582161|PMID:17699277|PMID:18257781|PMID:18664456|PMID:18837007|PMID:19158373|PMID:19491093|PMID:19556541|PMID:19936001|PMID:20168298|PMID:20408813|PMID:20881056|PMID:21115670|PMID:21551026|PMID:22008521|PMID:22114106|PMID:22383692|PMID:22508176|PMID:22797899|PMID:22863349|PMID:22995991|PMID:23300259|PMID:23376035|PMID:24374109|PMID:24658975|PMID:25333066|PMID:25491204|PMID:25574838|PMID:25741868|PMID:26150605|PMID:26453610|PMID:26467025|PMID:26692149|PMID:26920127|PMID:26950445|PMID:27165007|PMID:27366664|PMID:27401137|PMID:27499327|PMID:27782177|PMID:27884173|PMID:27894351|PMID:28356211|PMID:28492532|PMID:29338003|PMID:29378535|PMID:29529603|PMID:29633482|PMID:30333007|PMID:30369598|PMID:30639418|PMID:30820006|PMID:31317121|PMID:31488014|PMID:31514750|PMID:31740684|PMID:32332171|PMID:32816041|PMID:32970388|PMID:33095447|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33569422|PMID:33964006|PMID:34101167|PMID:35778421|PMID:9326320|PMID:9402976|PMID:9536098|PMID:9573526|PMID:9773786|PMID:9949210 11990799 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:0110859 polycystic kidney disease 2 ISO RGD:1353787 D RGD:7240710 20180418 OMIM 11990799 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:0110859 polycystic kidney disease 2 ISO RGD:1353787 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 2 PMID:10405208|PMID:10411676|PMID:10417277|PMID:10497221|PMID:10541293|PMID:10648666|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16223735|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17576681|PMID:17582161|PMID:17699277|PMID:18257781|PMID:18664456|PMID:18837007|PMID:19158373|PMID:19491093|PMID:19556541|PMID:19936001|PMID:20168298|PMID:20408813|PMID:20881056|PMID:20950398|PMID:21115670|PMID:21551026|PMID:21719175|PMID:22008521|PMID:22034641|PMID:22114106|PMID:22185115|PMID:22383692|PMID:22508176|PMID:22797899|PMID:22863349|PMID:22995991|PMID:23300259|PMID:23376035|PMID:24374109|PMID:24611717|PMID:24658975|PMID:25149526|PMID:25333066|PMID:25491204|PMID:25574838|PMID:25741868|PMID:25741894|PMID:25741902|PMID:26150605|PMID:26453610|PMID:26467025|PMID:26692149|PMID:26920127|PMID:26950445|PMID:27165007|PMID:27366664|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27782177|PMID:27884173|PMID:27894351|PMID:28356211|PMID:28492532|PMID:28522688|PMID:29321346|PMID:29338003|PMID:29378535|PMID:29520754|PMID:29529603|PMID:29633482|PMID:30333007|PMID:30369598|PMID:30639418|PMID:30816285|PMID:30820006|PMID:30989420|PMID:31317121|PMID:31488014|PMID:31514750|PMID:31740684|PMID:31948117|PMID:31979107|PMID:32332171|PMID:32384474|PMID:32457805|PMID:32816041|PMID:32970388|PMID:33095447|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33569422|PMID:33964006|PMID:34008892|PMID:34101167|PMID:35005812|PMID:35778421|PMID:8650545|PMID:9175744|PMID:9326320|PMID:9402976|PMID:9536098|PMID:9573526|PMID:9773786|PMID:9949210 11990799 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1353787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:25741868 11990799 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:0111002 Joubert syndrome 7 ISO RGD:1353787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 7 PMID:19936001|PMID:25741868|PMID:28492532 11990799 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:10941 intracranial aneurysm susceptibility ISO RGD:1353787 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:12842373|REF_RGD_ID:1580867 11990799 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:12215 oligohydramnios ISO RGD:1353787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: anhydramnios PMID:25741868|PMID:35005812 11990799 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:1289 neurodegenerative disease ISO RGD:1353787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25013951 11990799 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:14323 Marfan syndrome ISO RGD:1353787 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868 11990799 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:178 vascular disease ISO RGD:1353787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25013951 11990799 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:3021 acute kidney failure ISO RGD:1559992 D RGD:9068941 20200609 RGD protein:altered localization PMID:12089381|REF_RGD_ID:7175293 11990799 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:5679 retinal disease ISO RGD:1353787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25013951 11990799 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:630 genetic disease ISO RGD:1353787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10411676|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11968093|PMID:12707387|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16540757|PMID:17100995|PMID:17576681|PMID:17582161|PMID:18837007|PMID:22383692|PMID:22863349|PMID:23300259|PMID:25574838|PMID:25741868|PMID:26467025|PMID:26692149|PMID:28356211|PMID:28492532|PMID:29529603|PMID:30333007|PMID:30820006|PMID:31317121|PMID:31740684|PMID:32332171|PMID:32457805|PMID:32816041|PMID:33437033|PMID:33454723|PMID:33532864|PMID:34101167|PMID:35778421|PMID:9326320|PMID:9402976|PMID:9536098|PMID:9573526 11990799 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:8466 retinal degeneration ISO RGD:1353787 D RGD:9068941 20200609 RGD PMID:16943309|REF_RGD_ID:13524568 11990799 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1353787 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:10411676|PMID:10417277|PMID:10497221|PMID:10541293|PMID:10648666|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16223735|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17576681|PMID:17582161|PMID:18257781|PMID:18664456|PMID:18837007|PMID:19491093|PMID:19556541|PMID:19936001|PMID:20168298|PMID:20881056|PMID:21115670|PMID:21551026|PMID:22008521|PMID:22185115|PMID:22383692|PMID:22508176|PMID:22863349|PMID:22995991|PMID:23300259|PMID:24374109|PMID:24611717|PMID:24658975|PMID:25149526|PMID:25333066|PMID:25491204|PMID:25574838|PMID:25741868|PMID:26453610|PMID:26467025|PMID:26692149|PMID:26920127|PMID:26950445|PMID:27165007|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27884173|PMID:27894351|PMID:28356211|PMID:28492532|PMID:28522688|PMID:29321346|PMID:29338003|PMID:29378535|PMID:29529603|PMID:29633482|PMID:30333007|PMID:30816285|PMID:31740684|PMID:31948117|PMID:31979107|PMID:32384474|PMID:32457805|PMID:32970388|PMID:33095447|PMID:33532864|PMID:33569422|PMID:33964006|PMID:34101167|PMID:8650545|PMID:9326320|PMID:9536098|PMID:9573526|PMID:9773786|PMID:9949210 11990799 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1353787 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:10411676|PMID:10417277|PMID:10497221|PMID:10541293|PMID:10648666|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16223735|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17576681|PMID:17582161|PMID:18257781|PMID:18664456|PMID:18837007|PMID:19158373|PMID:19491093|PMID:19556541|PMID:19936001|PMID:20168298|PMID:20881056|PMID:20950398|PMID:21115670|PMID:21551026|PMID:22008521|PMID:22034641|PMID:22114106|PMID:22185115|PMID:22383692|PMID:22508176|PMID:22797899|PMID:22863349|PMID:22995991|PMID:23300259|PMID:23376035|PMID:24374109|PMID:24611717|PMID:24658975|PMID:25149526|PMID:25333066|PMID:25491204|PMID:25574838|PMID:25741868|PMID:26453610|PMID:26467025|PMID:26692149|PMID:26920127|PMID:26950445|PMID:27165007|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27782177|PMID:27884173|PMID:27894351|PMID:28356211|PMID:28492532|PMID:28522688|PMID:29321346|PMID:29338003|PMID:29378535|PMID:29520754|PMID:29529603|PMID:29633482|PMID:30333007|PMID:30369598|PMID:30639418|PMID:30816285|PMID:30820006|PMID:30989420|PMID:31317121|PMID:31740684|PMID:31948117|PMID:31979107|PMID:32332171|PMID:32384474|PMID:32457805|PMID:32816041|PMID:32970388|PMID:33095447|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33569422|PMID:33964006|PMID:34101167|PMID:35778421|PMID:8650545|PMID:9326320|PMID:9536098|PMID:9573526|PMID:9773786|PMID:9949210 11990799 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:898 autosomal dominant polycystic kidney disease onset ISO RGD:1353787 D RGD:9068941 20200609 RGD DNA:mutations:multiple PMID:22863349|REF_RGD_ID:7175273 11990799 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11990799 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1353787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Polycystic liver disease 1 PMID:25741868 11990799 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1559992 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:12454224|REF_RGD_ID:1580868 11990799 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:9912 hydrocele ISO RGD:1353787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrocele PMID:25741868 11990818 IRS1 insulin receptor substrate 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:733473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9466558 11990818 IRS1 insulin receptor substrate 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:2922 D RGD:9068941 20200609 RGD PMID:20846698|REF_RGD_ID:6483014 11990818 IRS1 insulin receptor substrate 1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:733473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:11775217|PMID:12679424|PMID:24033266|PMID:25741868|PMID:28492532 11990818 IRS1 insulin receptor substrate 1 gene DOID:10652 Alzheimer's disease ISO RGD:10816 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:hippocampus PMID:22476196|REF_RGD_ID:6482861 11990818 IRS1 insulin receptor substrate 1 gene DOID:10652 Alzheimer's disease ISO RGD:2922 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus: PMID:22527777|REF_RGD_ID:10045939 11990818 IRS1 insulin receptor substrate 1 gene DOID:10652 Alzheimer's disease ISO RGD:733473 D RGD:9068941 20200609 RGD protein:increased expression, increased serine phosphorylation, increased tyrosine phosphorylation:hippocampus CA1 PMID:22476197|REF_RGD_ID:6482860 11990818 IRS1 insulin receptor substrate 1 gene DOID:10652 Alzheimer's disease severity ISO RGD:733473 D RGD:9068941 20200609 RGD DNA:SNP:cds:rs1801278(human) PMID:24589556|REF_RGD_ID:10045932 11990818 IRS1 insulin receptor substrate 1 gene DOID:10652 Alzheimer's disease severity ISO RGD:733473 D RGD:9068941 20200609 RGD protein:altered expression:temporal cortex: PMID:18479783|REF_RGD_ID:10045894 11990818 IRS1 insulin receptor substrate 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:10816 D RGD:9068941 20200609 RGD PMID:23011726|PMID:23660953|REF_RGD_ID:10045935|REF_RGD_ID:10403036 11990818 IRS1 insulin receptor substrate 1 gene DOID:11476 osteoporosis ISO RGD:2922 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:multiple PMID:22820932|REF_RGD_ID:7207063 11990818 IRS1 insulin receptor substrate 1 gene DOID:1168 familial hyperlipidemia ISO RGD:733473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10591678 11990818 IRS1 insulin receptor substrate 1 gene DOID:2018 hyperinsulinism ISO RGD:733473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19734900 11990818 IRS1 insulin receptor substrate 1 gene DOID:3393 coronary artery disease ISO RGD:733473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10591678 11990818 IRS1 insulin receptor substrate 1 gene DOID:3393 coronary artery disease ISO RGD:733473 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:G972R PMID:10591678|REF_RGD_ID:1624974 11990818 IRS1 insulin receptor substrate 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:733473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30594912 11990818 IRS1 insulin receptor substrate 1 gene DOID:630 genetic disease ISO RGD:733473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11990818 IRS1 insulin receptor substrate 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1311924|PMID:23958494 11990818 IRS1 insulin receptor substrate 1 gene DOID:783 end stage renal disease ISO RGD:2922 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation:aorta PMID:22942179|REF_RGD_ID:7207055 11990818 IRS1 insulin receptor substrate 1 gene DOID:9000528 Coronary Disease ISO RGD:733473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease, susceptibility to PMID:10084586|PMID:10430617|PMID:10591678|PMID:10843189|PMID:12843189|PMID:1311924|PMID:14671192|PMID:14707024|PMID:15240653|PMID:7623569|PMID:8104271|PMID:8647950 11990818 IRS1 insulin receptor substrate 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2922 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:growth plate: PMID:22995397|REF_RGD_ID:8661261 11990818 IRS1 insulin receptor substrate 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15678496 11990818 IRS1 insulin receptor substrate 1 gene DOID:9004086 AIDS Dementia Complex severity ISO RGD:733473 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte PMID:22629383|REF_RGD_ID:10403033 11990818 IRS1 insulin receptor substrate 1 gene DOID:9004484 Sepsis ISO RGD:2922 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation, increased serine phosphorylation:gastrocnemius PMID:19781177|REF_RGD_ID:6482862 11990818 IRS1 insulin receptor substrate 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2922 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:multiple PMID:22820932|REF_RGD_ID:7207063 11990818 IRS1 insulin receptor substrate 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138235 11990818 IRS1 insulin receptor substrate 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2922 D RGD:9068941 20200609 RGD PMID:22983684|REF_RGD_ID:7207061 11990818 IRS1 insulin receptor substrate 1 gene DOID:9005930 Endotoxemia ISO RGD:10816 D RGD:9068941 20200609 RGD protein:increased tyrosine nitration, decreased tyrosine phosphorylation:skeletal muscle PMID:21206533|REF_RGD_ID:6483008 11990818 IRS1 insulin receptor substrate 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:2922 D RGD:9068941 20200609 RGD protein:decreased expression:skeletal muscle PMID:10842668|REF_RGD_ID:6482864 11990818 IRS1 insulin receptor substrate 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23748240 11990818 IRS1 insulin receptor substrate 1 gene DOID:9007692 Insulin Resistance ISO RGD:733473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Insulin resistance, susceptibility to PMID:10084586|PMID:10430617|PMID:10591678|PMID:10843189|PMID:12843189|PMID:1311924|PMID:14671192|PMID:14707024|PMID:15240653|PMID:7623569|PMID:8104271|PMID:8647950 11990818 IRS1 insulin receptor substrate 1 gene DOID:9351 diabetes mellitus ISO RGD:733473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10591678 11990818 IRS1 insulin receptor substrate 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733473 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:11775217|PMID:12679424|PMID:24033266|PMID:25741868|PMID:28492532 11990818 IRS1 insulin receptor substrate 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:733473 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.P512A, p.G971R (human) PMID:15561966|REF_RGD_ID:6482863 11990818 IRS1 insulin receptor substrate 1 gene DOID:9970 obesity ISO RGD:2922 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation, increased serine phosphorylation:skeletal muscle PMID:22982470|REF_RGD_ID:7207062 11990818 IRS1 insulin receptor substrate 1 gene DOID:9970 obesity ISO RGD:733473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23954404 11990831 OSER1 oxidative stress responsive serine rich 1 gene DOID:2234 focal epilepsy ISO RGD:1350756 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11990831 OSER1 oxidative stress responsive serine rich 1 gene DOID:630 genetic disease ISO RGD:1350756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11990831 OSER1 oxidative stress responsive serine rich 1 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1350756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11990853 DCPS decapping enzyme, scavenger gene DOID:0111723 Jacobsen Syndrome ISO RGD:1344529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11990853 DCPS decapping enzyme, scavenger gene DOID:5419 schizophrenia ISO RGD:1344529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11990853 DCPS decapping enzyme, scavenger gene DOID:630 genetic disease ISO RGD:1344529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11990853 DCPS decapping enzyme, scavenger gene DOID:9003530 Al-Raqad Syndrome ISO RGD:1344529 D RGD:7240710 20180130 OMIM 11990853 DCPS decapping enzyme, scavenger gene DOID:9003530 Al-Raqad Syndrome ISO RGD:1344529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Al-Raqad syndrome PMID:25701870|PMID:25712129|PMID:25741868|PMID:28492532|PMID:30289615 11990853 DCPS decapping enzyme, scavenger gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1344529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11990853 DCPS decapping enzyme, scavenger gene DOID:9007661 Dwarfism ISO RGD:1344529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11990863 MTRF1L mitochondrial translation release factor 1 like gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:1316759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:28492532 11990863 MTRF1L mitochondrial translation release factor 1 like gene DOID:630 genetic disease ISO RGD:1316759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11990886 PCBP3 poly(rC) binding protein 3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1316622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11990886 PCBP3 poly(rC) binding protein 3 gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1316622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 11990886 PCBP3 poly(rC) binding protein 3 gene DOID:0110266 cataract 9 multiple types ISO RGD:1316622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11990886 PCBP3 poly(rC) binding protein 3 gene DOID:12849 autistic disorder ISO RGD:1316622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11990886 PCBP3 poly(rC) binding protein 3 gene DOID:630 genetic disease ISO RGD:1316622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11990886 PCBP3 poly(rC) binding protein 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1316622 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11990886 PCBP3 poly(rC) binding protein 3 gene DOID:9263 homocystinuria ISO RGD:1316622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11990886 PCBP3 poly(rC) binding protein 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11990936 TCAF1 TRPM8 channel associated factor 1 gene DOID:630 genetic disease ISO RGD:1602499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11990970 WSB2 WD repeat and SOCS box containing 2 gene DOID:630 genetic disease ISO RGD:1346731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11990995 PDAP1 PDGFA associated protein 1 gene DOID:3070 high grade glioma severity ISO RGD:733658 D RGD:9068941 20200609 RGD PMID:27448842|REF_RGD_ID:13702895 11990995 PDAP1 PDGFA associated protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11990995 PDAP1 PDGFA associated protein 1 gene DOID:630 genetic disease ISO RGD:733658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991005 ICE1 interactor of little elongation complex ELL subunit 1 gene DOID:630 genetic disease ISO RGD:2311267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991037 PIM3 Pim-3 proto-oncogene, serine/threonine kinase gene DOID:0060041 autism spectrum disorder ISO RGD:1344275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 11991037 PIM3 Pim-3 proto-oncogene, serine/threonine kinase gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1344275 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 11991037 PIM3 Pim-3 proto-oncogene, serine/threonine kinase gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1344275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11991037 PIM3 Pim-3 proto-oncogene, serine/threonine kinase gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1344275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 11991037 PIM3 Pim-3 proto-oncogene, serine/threonine kinase gene DOID:10581 metachromatic leukodystrophy ISO RGD:1344275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 11991037 PIM3 Pim-3 proto-oncogene, serine/threonine kinase gene DOID:1059 intellectual disability ISO RGD:1344275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11991037 PIM3 Pim-3 proto-oncogene, serine/threonine kinase gene DOID:630 genetic disease ISO RGD:1344275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991043 TSHZ2 teashirt zinc finger homeobox 2 gene DOID:0080600 COVID-19 ISO RGD:1353516 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11991043 TSHZ2 teashirt zinc finger homeobox 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1353516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 11991043 TSHZ2 teashirt zinc finger homeobox 2 gene DOID:13938 amenorrhea ISO RGD:1353516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11991043 TSHZ2 teashirt zinc finger homeobox 2 gene DOID:630 genetic disease ISO RGD:1353516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991057 OSBPL10 oxysterol binding protein like 10 gene DOID:630 genetic disease ISO RGD:1350183 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28106320 11991076 SNX30 sorting nexin family member 30 gene DOID:630 genetic disease ISO RGD:1601789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991089 RANBP9 RAN binding protein 9 gene DOID:630 genetic disease ISO RGD:1344686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991107 ZHX2 zinc fingers and homeoboxes 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1342946 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 11991107 ZHX2 zinc fingers and homeoboxes 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1342946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11991107 ZHX2 zinc fingers and homeoboxes 2 gene DOID:630 genetic disease ISO RGD:1342946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991116 NFIX nuclear factor I X gene DOID:0050858 Marshall-Smith syndrome ISO RGD:69161 D RGD:7240710 20180130 OMIM 11991116 NFIX nuclear factor I X gene DOID:0050858 Marshall-Smith syndrome ISO RGD:69161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marshall-Smith syndrome PMID:16086394|PMID:16199547|PMID:17576681|PMID:20673863|PMID:20949508|PMID:22301465|PMID:23495138|PMID:24924640|PMID:25118028|PMID:25356970|PMID:25640679|PMID:25736188|PMID:25741868|PMID:26193383|PMID:26200704|PMID:26927468|PMID:27688808|PMID:28333917|PMID:28475857|PMID:28492532|PMID:29142766|PMID:29184170|PMID:29897170|PMID:31036916|PMID:33767182|PMID:8910820|PMID:9536098|PMID:9717599 11991116 NFIX nuclear factor I X gene DOID:0050990 episodic ataxia type 2 ISO RGD:69161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532|PMID:29184170 11991116 NFIX nuclear factor I X gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:69161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 PMID:25741868 11991116 NFIX nuclear factor I X gene DOID:0080833 laryngomalacia ISO RGD:69161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital laryngomalacia PMID:25741868 11991116 NFIX nuclear factor I X gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:69161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11991116 NFIX nuclear factor I X gene DOID:0111254 glutaric acidemia I ISO RGD:69161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11991116 NFIX nuclear factor I X gene DOID:0112102 Sotos syndrome 2 ISO RGD:69161 D RGD:7240710 20180130 OMIM 11991116 NFIX nuclear factor I X gene DOID:0112102 Sotos syndrome 2 ISO RGD:69161 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malan overgrowth syndrome PMID:20673863|PMID:20949508|PMID:22301465|PMID:24088041|PMID:24375697|PMID:24924640|PMID:25118028|PMID:25356970|PMID:25590979|PMID:25741868|PMID:26193383|PMID:26633545|PMID:28475857|PMID:28492532|PMID:28708303|PMID:29897170|PMID:31036916|PMID:8910820 11991116 NFIX nuclear factor I X gene DOID:1059 intellectual disability ISO RGD:69161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11991116 NFIX nuclear factor I X gene DOID:13300 Scheuermann's disease ISO RGD:69162 D RGD:9068941 20220825 MouseDO OMIM:181440 11991116 NFIX nuclear factor I X gene DOID:3413 alpha-mannosidosis ISO RGD:69161 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11991116 NFIX nuclear factor I X gene DOID:630 genetic disease ISO RGD:69161 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20673863|PMID:22301465|PMID:25356970|PMID:25741868|PMID:26193383|PMID:28492532|PMID:29897170|PMID:33767182|PMID:8910820 11991116 NFIX nuclear factor I X gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:69161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11991156 RNASE10 ribonuclease A family member 10 (inactive) gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1347818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 11991156 RNASE10 ribonuclease A family member 10 (inactive) gene DOID:630 genetic disease ISO RGD:1347818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991162 SOCS4 suppressor of cytokine signaling 4 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1315155 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 11991162 SOCS4 suppressor of cytokine signaling 4 gene DOID:630 genetic disease ISO RGD:1315155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991162 SOCS4 suppressor of cytokine signaling 4 gene DOID:9004009 Reperfusion Injury ISO RGD:1306503 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:17880360|REF_RGD_ID:2303397 11991187 RNF223 ring finger protein 223 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:5132242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11991187 RNF223 ring finger protein 223 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:5132242 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11991187 RNF223 ring finger protein 223 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:5132242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11991187 RNF223 ring finger protein 223 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:5132242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11991187 RNF223 ring finger protein 223 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:5132242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11991187 RNF223 ring finger protein 223 gene DOID:0110994 Joubert syndrome 25 ISO RGD:5132242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11991187 RNF223 ring finger protein 223 gene DOID:0111934 immunodeficiency 38 ISO RGD:5132242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11991187 RNF223 ring finger protein 223 gene DOID:0111935 immunodeficiency 16 ISO RGD:5132242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11991187 RNF223 ring finger protein 223 gene DOID:630 genetic disease ISO RGD:5132242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991187 RNF223 ring finger protein 223 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:5132242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11991187 RNF223 ring finger protein 223 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:5132242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11991187 RNF223 ring finger protein 223 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:5132242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11991193 EIF3E eukaryotic translation initiation factor 3 subunit E gene DOID:3910 lung adenocarcinoma ISO RGD:1323023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11991193 EIF3E eukaryotic translation initiation factor 3 subunit E gene DOID:630 genetic disease ISO RGD:1323023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991193 EIF3E eukaryotic translation initiation factor 3 subunit E gene DOID:9006205 Animal Disease Models ISO RGD:1323023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11991216 MAU2 MAU2 sister chromatid cohesion factor gene DOID:0060041 autism spectrum disorder ISO RGD:1318717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11991216 MAU2 MAU2 sister chromatid cohesion factor gene DOID:630 genetic disease ISO RGD:1318717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991243 STMND1 stathmin domain containing 1 gene DOID:630 genetic disease ISO RGD:7205150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991253 ACSF3 acyl-CoA synthetase family member 3 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1604214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 11991253 ACSF3 acyl-CoA synthetase family member 3 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1604214 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11991253 ACSF3 acyl-CoA synthetase family member 3 gene DOID:0111263 combined malonic and methylmalonic acidemia ISO RGD:1604214 D RGD:7240710 20180130 OMIM 11991253 ACSF3 acyl-CoA synthetase family member 3 gene DOID:0111263 combined malonic and methylmalonic acidemia ISO RGD:1604214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined malonic and methylmalonic acidemia PMID:16199547|PMID:17576681|PMID:21785126|PMID:21841779|PMID:22421630|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26827111|PMID:26915364|PMID:28492532|PMID:29144512|PMID:29555771|PMID:29858964|PMID:30041674|PMID:30487145|PMID:30609409|PMID:30740739|PMID:31376476|PMID:31462756|PMID:33223529|PMID:9030548|PMID:9536098 11991253 ACSF3 acyl-CoA synthetase family member 3 gene DOID:14749 methylmalonic acidemia ISO RGD:1604214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:21785126|PMID:21841779|PMID:22421630|PMID:25741868|PMID:26827111|PMID:26915364|PMID:28492532|PMID:29144512|PMID:29858964|PMID:30041674|PMID:30740739|PMID:31376476|PMID:9030548 11991253 ACSF3 acyl-CoA synthetase family member 3 gene DOID:14780 KBG syndrome ISO RGD:1604214 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316|PMID:31690835 11991253 ACSF3 acyl-CoA synthetase family member 3 gene DOID:630 genetic disease ISO RGD:1604214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21841779|PMID:25741868|PMID:26827111|PMID:28492532 11991253 ACSF3 acyl-CoA synthetase family member 3 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1604214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 11991253 ACSF3 acyl-CoA synthetase family member 3 gene DOID:9005126 Malonic Aciduria ISO RGD:1604214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21841779 11991253 ACSF3 acyl-CoA synthetase family member 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1604214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11991269 DENND1B DENN domain containing 1B gene DOID:0080600 COVID-19 ISO RGD:1318210 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11991269 DENND1B DENN domain containing 1B gene DOID:0110358 retinitis pigmentosa 12 ISO RGD:1318210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 12 PMID:10508521|PMID:17964524|PMID:22065545|PMID:23379534|PMID:25412400|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521 11991269 DENND1B DENN domain containing 1B gene DOID:12236 primary biliary cholangitis ISO RGD:1318210 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21399635 11991269 DENND1B DENN domain containing 1B gene DOID:1540 parathyroid carcinoma ISO RGD:1318210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11991269 DENND1B DENN domain containing 1B gene DOID:630 genetic disease ISO RGD:1318210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991269 DENND1B DENN domain containing 1B gene DOID:8778 Crohn's disease ISO RGD:1318210 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 11991269 DENND1B DENN domain containing 1B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11991311 CBLL1 Cbl proto-oncogene like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11991311 CBLL1 Cbl proto-oncogene like 1 gene DOID:630 genetic disease ISO RGD:1321764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991340 RAB30 RAB30, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1319882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11991340 RAB30 RAB30, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1319882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991340 RAB30 RAB30, member RAS oncogene family gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11991352 FAM193A family with sequence similarity 193 member A gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1320077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 11991352 FAM193A family with sequence similarity 193 member A gene DOID:1856 cherubism ISO RGD:1320077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11991352 FAM193A family with sequence similarity 193 member A gene DOID:630 genetic disease ISO RGD:1320077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991383 POLR2M RNA polymerase II subunit M gene DOID:2717 Bloom syndrome ISO RGD:731440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11991383 POLR2M RNA polymerase II subunit M gene DOID:630 genetic disease ISO RGD:731440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991383 POLR2M RNA polymerase II subunit M gene DOID:9256 colorectal cancer ISO RGD:731440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 11991411 ARG1 arginase 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11991411 ARG1 arginase 1 gene DOID:0060180 colitis severity ISO RGD:1353986 D RGD:9068941 20201023 RGD PMID:28423665|REF_RGD_ID:39939041 11991411 ARG1 arginase 1 gene DOID:0080000 muscular disease ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239484 11991411 ARG1 arginase 1 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:736430 D RGD:9068941 20200619 RGD mRNA:increased expression:lung PMID:31838832|REF_RGD_ID:30309204 11991411 ARG1 arginase 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:2150 D RGD:9068941 20200609 RGD PMID:20697209|REF_RGD_ID:4142795 11991411 ARG1 arginase 1 gene DOID:0081190 autosomal recessive intellectual developmental disorder 18 ISO RGD:1353986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 18, WITH OR WITHOUT EPILEPSY PMID:25741868|PMID:28492532 11991411 ARG1 arginase 1 gene DOID:10320 asbestosis ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26699812 11991411 ARG1 arginase 1 gene DOID:10325 silicosis ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15292275 11991411 ARG1 arginase 1 gene DOID:10325 silicosis ISO RGD:2150 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:17365572|REF_RGD_ID:4143368 11991411 ARG1 arginase 1 gene DOID:10763 hypertension ISO RGD:2150 D RGD:9068941 20200609 RGD PMID:18475148|REF_RGD_ID:4142834 11991411 ARG1 arginase 1 gene DOID:10763 hypertension ISO RGD:2150 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta (rat) PMID:17223136|REF_RGD_ID:1626296 11991411 ARG1 arginase 1 gene DOID:13141 uveitis ISO RGD:2150 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:eye (rat) PMID:12470967|REF_RGD_ID:631755 11991411 ARG1 arginase 1 gene DOID:13580 cholestasis ISO RGD:2150 D RGD:9068941 20200609 RGD protein:altered activity:liver (rat) PMID:15916970|REF_RGD_ID:4143230 11991411 ARG1 arginase 1 gene DOID:2841 asthma ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19281908|PMID:19800904 11991411 ARG1 arginase 1 gene DOID:2841 asthma ISO RGD:1353986 D RGD:9068941 20200609 RGD DNA:SNP: :rs2781667 (human) PMID:20124949|REF_RGD_ID:5129205 11991411 ARG1 arginase 1 gene DOID:2841 asthma ISO RGD:1353986 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung, mononuclear cell (human) PMID:12813022|REF_RGD_ID:4143187 11991411 ARG1 arginase 1 gene DOID:2841 asthma ISO RGD:736430 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:12813022|REF_RGD_ID:4143187 11991411 ARG1 arginase 1 gene DOID:2914 immune system disease ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239484 11991411 ARG1 arginase 1 gene DOID:3021 acute kidney failure ISO RGD:2150 D RGD:9068941 20200609 RGD mRNA:decreased expression:renal tubule (rat) PMID:12371970|REF_RGD_ID:631989 11991411 ARG1 arginase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11991411 ARG1 arginase 1 gene DOID:409 liver disease ISO RGD:2150 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:16872590|REF_RGD_ID:1599211 11991411 ARG1 arginase 1 gene DOID:421 hair disease ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239484 11991411 ARG1 arginase 1 gene DOID:5199 ureteral obstruction ISO RGD:2150 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney, glomerulus (rat) PMID:18552509|REF_RGD_ID:4143282 11991411 ARG1 arginase 1 gene DOID:630 genetic disease ISO RGD:1353986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10502833|PMID:12052859|PMID:21802329|PMID:25741868|PMID:28492532|PMID:29726057|PMID:7649538 11991411 ARG1 arginase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1353986 D RGD:9068941 20200609 RGD PMID:17210712|REF_RGD_ID:4140476 11991411 ARG1 arginase 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1353986 D RGD:9068941 20220616 RGD associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 11991411 ARG1 arginase 1 gene DOID:9001015 Intestinal Fistula ISO RGD:2150 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:colon (rat) PMID:12654563|REF_RGD_ID:4144044 11991411 ARG1 arginase 1 gene DOID:9001443 Hypercapnia ISO RGD:2150 D RGD:9068941 20200609 RGD protein:decreased expression:lung (rat) PMID:19666777|REF_RGD_ID:4143279 11991411 ARG1 arginase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2150 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver (rat) PMID:11931836|REF_RGD_ID:1626298 11991411 ARG1 arginase 1 gene DOID:9001600 Wounds and Injuries ISO RGD:2150 D RGD:9068941 20200609 RGD protein:increased expression:wound, fibroblast (rat) PMID:12069499|REF_RGD_ID:634666 11991411 ARG1 arginase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2150 D RGD:9068941 20200609 RGD RNA:increased expression:thoracic aorta: PMID:29741931|REF_RGD_ID:13792602 11991411 ARG1 arginase 1 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:1353986 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:16387594|REF_RGD_ID:5129207 11991411 ARG1 arginase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2150 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:17023552|REF_RGD_ID:4143185 11991411 ARG1 arginase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2150 D RGD:9068941 20200609 RGD protein:increased expression:aorta, liver (rat) PMID:17967788|REF_RGD_ID:4142848 11991411 ARG1 arginase 1 gene DOID:9006205 Animal Disease Models ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11991411 ARG1 arginase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22872058 11991411 ARG1 arginase 1 gene DOID:9007480 Hyperoxia ISO RGD:2150 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:9688940|REF_RGD_ID:4144054 11991411 ARG1 arginase 1 gene DOID:9007692 Insulin Resistance ISO RGD:2150 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:20593143|REF_RGD_ID:4142796 11991411 ARG1 arginase 1 gene DOID:9007874 Liver Failure ISO RGD:2150 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:11779202|REF_RGD_ID:70249 11991411 ARG1 arginase 1 gene DOID:9009138 Citrullinemia Type 2 ISO RGD:1353986 D RGD:9068941 20200609 RGD protein:altered expression:liver PMID:3369364|REF_RGD_ID:13628398 11991411 ARG1 arginase 1 gene DOID:9065 leishmaniasis ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21232540 11991411 ARG1 arginase 1 gene DOID:9252 amino acid metabolic disorder ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239484 11991411 ARG1 arginase 1 gene DOID:9278 hyperargininemia ISO RGD:1353986 D RGD:7240710 20180130 OMIM 11991411 ARG1 arginase 1 gene DOID:9278 hyperargininemia ISO RGD:1353986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arginase deficiency | ClinVar Annotator: match by term: Argininemia PMID:10502833|PMID:11883902|PMID:12052859|PMID:1463019|PMID:15565656|PMID:1598908|PMID:16199547|PMID:17576681|PMID:18666241|PMID:18957279|PMID:19052914|PMID:19562505|PMID:19936428|PMID:21310339|PMID:21802329|PMID:22959135|PMID:22964440|PMID:2365823|PMID:23859858|PMID:24103480|PMID:24482476|PMID:24814679|PMID:25741868|PMID:26169240|PMID:26310552|PMID:27038030|PMID:27898091|PMID:28089752|PMID:28492532|PMID:29443755|PMID:29726057|PMID:30285816|PMID:31130284|PMID:32450233|PMID:32778825|PMID:33193012|PMID:3658675|PMID:480013|PMID:624188|PMID:7649538|PMID:7981719|PMID:8902193|PMID:9536098 11991411 ARG1 arginase 1 gene DOID:9278 hyperargininemia susceptibility ISO RGD:1353986 D RGD:9068941 20200609 RGD PMID:7649538|REF_RGD_ID:1599208 11991423 SLFN11 schlafen family member 11 gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:1605312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 11991423 SLFN11 schlafen family member 11 gene DOID:0080600 COVID-19 ISO RGD:1605312 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11991423 SLFN11 schlafen family member 11 gene DOID:630 genetic disease ISO RGD:1605312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991434 SORL1 sortilin related receptor 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1322123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 11991434 SORL1 sortilin related receptor 1 gene DOID:0060224 atrial fibrillation ISO RGD:1322123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 11991434 SORL1 sortilin related receptor 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1322123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11991434 SORL1 sortilin related receptor 1 gene DOID:0080690 RASopathy ISO RGD:1322123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11991434 SORL1 sortilin related receptor 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1322123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 11991434 SORL1 sortilin related receptor 1 gene DOID:0111364 Alzheimer's disease 9 ISO RGD:1322123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease 9 PMID:28789839 11991434 SORL1 sortilin related receptor 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1322123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 11991434 SORL1 sortilin related receptor 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1322123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 11991434 SORL1 sortilin related receptor 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1322123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 11991434 SORL1 sortilin related receptor 1 gene DOID:10652 Alzheimer's disease ISO RGD:1322123 D RGD:9068941 20200609 RGD PMID:15313836|REF_RGD_ID:1581303 11991434 SORL1 sortilin related receptor 1 gene DOID:13580 cholestasis ISO RGD:1322123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 11991434 SORL1 sortilin related receptor 1 gene DOID:5419 schizophrenia ISO RGD:1322123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11991434 SORL1 sortilin related receptor 1 gene DOID:630 genetic disease ISO RGD:1322123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11991434 SORL1 sortilin related receptor 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1322123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30503753 11991434 SORL1 sortilin related receptor 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11991434 SORL1 sortilin related receptor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1322123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 11991434 SORL1 sortilin related receptor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1322123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 11991434 SORL1 sortilin related receptor 1 gene DOID:9007661 Dwarfism ISO RGD:1322123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11991486 COPG2 COPI coat complex subunit gamma 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11991486 COPG2 COPI coat complex subunit gamma 2 gene DOID:630 genetic disease ISO RGD:1347391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991486 COPG2 COPI coat complex subunit gamma 2 gene DOID:9004657 Weight Gain ISO RGD:1347391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11991517 LOC100980406 olfactory receptor 2C3 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1346992 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11991517 LOC100980406 olfactory receptor 2C3 gene DOID:1540 parathyroid carcinoma ISO RGD:1346992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11991517 LOC100980406 olfactory receptor 2C3 gene DOID:630 genetic disease ISO RGD:1346992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991517 LOC100980406 olfactory receptor 2C3 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1346992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome PMID:28492532 11991517 LOC100980406 olfactory receptor 2C3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11991523 PPEF1 protein phosphatase with EF-hand domain 1 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1606579 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11991523 PPEF1 protein phosphatase with EF-hand domain 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11991523 PPEF1 protein phosphatase with EF-hand domain 1 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1606579 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11991523 PPEF1 protein phosphatase with EF-hand domain 1 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1606579 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11991523 PPEF1 protein phosphatase with EF-hand domain 1 gene DOID:12849 autistic disorder ISO RGD:1606579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11991523 PPEF1 protein phosphatase with EF-hand domain 1 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1606579 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11991523 PPEF1 protein phosphatase with EF-hand domain 1 gene DOID:630 genetic disease ISO RGD:1606579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991523 PPEF1 protein phosphatase with EF-hand domain 1 gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:1606579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:17172462|PMID:20591708|PMID:21914562|PMID:22473288|PMID:28492532|PMID:9618178 11991523 PPEF1 protein phosphatase with EF-hand domain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11991546 MYO9A myosin IXA gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:732261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868|PMID:33412162 11991546 MYO9A myosin IXA gene DOID:14159 obstructive hydrocephalus ISO RGD:1551281 D RGD:9068941 20220825 MouseDO 11991546 MYO9A myosin IXA gene DOID:2717 Bloom syndrome ISO RGD:732261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11991546 MYO9A myosin IXA gene DOID:3320 Tay-Sachs disease ISO RGD:732261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 11991546 MYO9A myosin IXA gene DOID:3635 congenital myasthenic syndrome ISO RGD:732261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Presynaptic congenital myasthenic syndromes PMID:25741868 11991546 MYO9A myosin IXA gene DOID:630 genetic disease ISO RGD:732261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11991546 MYO9A myosin IXA gene DOID:9006836 Contracture ISO RGD:732261 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Contractures PMID:25741868|PMID:26752647 11991546 MYO9A myosin IXA gene DOID:9009246 Congenital Myasthenic Syndrome 24 ISO RGD:732261 D RGD:7240710 20190315 OMIM 11991546 MYO9A myosin IXA gene DOID:9009246 Congenital Myasthenic Syndrome 24 ISO RGD:732261 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 24, presynaptic PMID:25741868|PMID:26752647|PMID:27259756|PMID:28492532|PMID:30237576|PMID:33412162 11991546 MYO9A myosin IXA gene DOID:9256 colorectal cancer ISO RGD:732261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11991546 MYO9A myosin IXA gene DOID:9563 bronchiectasis ISO RGD:732261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bronchiectasis 11991616 ZCCHC10 zinc finger CCHC-type containing 10 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1317755 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11991616 ZCCHC10 zinc finger CCHC-type containing 10 gene DOID:630 genetic disease ISO RGD:1317755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991616 ZCCHC10 zinc finger CCHC-type containing 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11991616 ZCCHC10 zinc finger CCHC-type containing 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317755 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11991638 JAGN1 jagunal homolog 1 gene DOID:0050590 severe congenital neutropenia ISO RGD:1342770 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe congenital neutropenia PMID:25129144|PMID:25741868|PMID:25851723|PMID:28492532|PMID:30044346|PMID:31031743|PMID:32419428|PMID:32888943|PMID:33206996|PMID:33718801 11991638 JAGN1 jagunal homolog 1 gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1342770 D RGD:7240710 20180130 OMIM 11991638 JAGN1 jagunal homolog 1 gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1342770 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:17576681|PMID:25129144|PMID:25741868|PMID:25851723|PMID:28492532|PMID:30044346|PMID:31031743|PMID:32419428|PMID:32888943|PMID:33206996|PMID:33718801|PMID:9536098 11991638 JAGN1 jagunal homolog 1 gene DOID:1227 neutropenia ISO RGD:1342770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25129144|PMID:25129145 11991638 JAGN1 jagunal homolog 1 gene DOID:2843 long QT syndrome ISO RGD:1342770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11991638 JAGN1 jagunal homolog 1 gene DOID:630 genetic disease ISO RGD:1342770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11991638 JAGN1 jagunal homolog 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11991638 JAGN1 jagunal homolog 1 gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1342770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 11991638 JAGN1 jagunal homolog 1 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1342770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 11991646 EIF1AD eukaryotic translation initiation factor 1A domain containing gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1601944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 11991646 EIF1AD eukaryotic translation initiation factor 1A domain containing gene DOID:0081334 Nestor-Guillermo progeria syndrome ISO RGD:1601944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome 11991646 EIF1AD eukaryotic translation initiation factor 1A domain containing gene DOID:1059 intellectual disability ISO RGD:1601944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11991646 EIF1AD eukaryotic translation initiation factor 1A domain containing gene DOID:1909 melanoma ISO RGD:1601944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 11991646 EIF1AD eukaryotic translation initiation factor 1A domain containing gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1601944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11991646 EIF1AD eukaryotic translation initiation factor 1A domain containing gene DOID:2746 glycogen storage disease V ISO RGD:1601944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11991646 EIF1AD eukaryotic translation initiation factor 1A domain containing gene DOID:630 genetic disease ISO RGD:1601944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991646 EIF1AD eukaryotic translation initiation factor 1A domain containing gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1601944 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11991646 EIF1AD eukaryotic translation initiation factor 1A domain containing gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1601944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11991687 MRPL24 mitochondrial ribosomal protein L24 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1344820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 11991687 MRPL24 mitochondrial ribosomal protein L24 gene DOID:0111940 immunodeficiency 42 ISO RGD:1344820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11991687 MRPL24 mitochondrial ribosomal protein L24 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11991687 MRPL24 mitochondrial ribosomal protein L24 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11991687 MRPL24 mitochondrial ribosomal protein L24 gene DOID:1540 parathyroid carcinoma ISO RGD:1344820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11991687 MRPL24 mitochondrial ribosomal protein L24 gene DOID:5812 MHC class II deficiency ISO RGD:1344820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11991687 MRPL24 mitochondrial ribosomal protein L24 gene DOID:630 genetic disease ISO RGD:1344820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991687 MRPL24 mitochondrial ribosomal protein L24 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11991703 TNPO1 transportin 1 gene DOID:630 genetic disease ISO RGD:1318103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991703 TNPO1 transportin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11991738 PRDX6 peroxiredoxin 6 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1602898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 11991738 PRDX6 peroxiredoxin 6 gene DOID:14250 Down syndrome ISO RGD:1602898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11771762 11991738 PRDX6 peroxiredoxin 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1602898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11991738 PRDX6 peroxiredoxin 6 gene DOID:2349 arteriosclerosis ISO RGD:736132 D RGD:9068941 20200609 RGD PMID:15488866|REF_RGD_ID:1580711 11991738 PRDX6 peroxiredoxin 6 gene DOID:2773 contact dermatitis ISO RGD:1602898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11991738 PRDX6 peroxiredoxin 6 gene DOID:3755 antithrombin III deficiency ISO RGD:1602898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 11991738 PRDX6 peroxiredoxin 6 gene DOID:630 genetic disease ISO RGD:1602898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991738 PRDX6 peroxiredoxin 6 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1602898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 11991738 PRDX6 peroxiredoxin 6 gene DOID:684 hepatocellular carcinoma ISO RGD:1602898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11991738 PRDX6 peroxiredoxin 6 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1602898 D RGD:9068941 20200609 RGD protein:decreased expression:placenta PMID:25171874|REF_RGD_ID:26884462 11991738 PRDX6 peroxiredoxin 6 gene DOID:9002231 Fetal Growth Retardation ISO RGD:71005 D RGD:9068941 20200609 RGD protein:decreased expression:placenta PMID:25171874|REF_RGD_ID:26884462 11991738 PRDX6 peroxiredoxin 6 gene DOID:9004009 Reperfusion Injury ISO RGD:736132 D RGD:9068941 20200609 RGD PMID:16766642|REF_RGD_ID:1580710 11991738 PRDX6 peroxiredoxin 6 gene DOID:9005172 Lung Neoplasms ISO RGD:1602898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23692979 11991738 PRDX6 peroxiredoxin 6 gene DOID:9007102 Myocardial Ischemia ISO RGD:1602898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11991738 PRDX6 peroxiredoxin 6 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1602898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 11991738 PRDX6 peroxiredoxin 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11991753 RALYL RALY RNA binding protein like gene DOID:630 genetic disease ISO RGD:1606457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991753 RALYL RALY RNA binding protein like gene DOID:9008939 Breast Neoplasms ISO RGD:1606457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 11991778 CFAP77 cilia and flagella associated protein 77 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1604151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11991778 CFAP77 cilia and flagella associated protein 77 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1604151 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11991778 CFAP77 cilia and flagella associated protein 77 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1604151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 11991778 CFAP77 cilia and flagella associated protein 77 gene DOID:0081097 Rafiq syndrome ISO RGD:1604151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11991778 CFAP77 cilia and flagella associated protein 77 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1604151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 11991778 CFAP77 cilia and flagella associated protein 77 gene DOID:3652 Leigh disease ISO RGD:1604151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11991778 CFAP77 cilia and flagella associated protein 77 gene DOID:630 genetic disease ISO RGD:1604151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991788 FAM186B family with sequence similarity 186 member B gene DOID:12712 nephronophthisis ISO RGD:1604773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:26489029 11991788 FAM186B family with sequence similarity 186 member B gene DOID:630 genetic disease ISO RGD:1604773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11991814 AIF1 allograft inflammatory factor 1 gene DOID:0050553 JMP syndrome ISO RGD:735562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11991814 AIF1 allograft inflammatory factor 1 gene DOID:10554 meningoencephalitis ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:brain (rat) PMID:16150122|REF_RGD_ID:2313041 11991814 AIF1 allograft inflammatory factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:62217 D RGD:9068941 20200609 RGD protein:altered expression:hippocampus (mouse) PMID:19084047|REF_RGD_ID:2313023 11991814 AIF1 allograft inflammatory factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:735562 D RGD:9068941 20200609 RGD mRNA:increased expression:frontal cortex (human) PMID:16340083|REF_RGD_ID:2313045 11991814 AIF1 allograft inflammatory factor 1 gene DOID:10763 hypertension ISO RGD:735562 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32147540 11991814 AIF1 allograft inflammatory factor 1 gene DOID:10825 essential hypertension ISO RGD:735562 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 11991814 AIF1 allograft inflammatory factor 1 gene DOID:11372 megacolon ISO RGD:735562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11991814 AIF1 allograft inflammatory factor 1 gene DOID:11832 visual epilepsy ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:brain (rat) PMID:16635480|REF_RGD_ID:2313039 11991814 AIF1 allograft inflammatory factor 1 gene DOID:12098 trigeminal neuralgia ISO RGD:735562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 11991814 AIF1 allograft inflammatory factor 1 gene DOID:12217 Lewy body dementia ISO RGD:735562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 11991814 AIF1 allograft inflammatory factor 1 gene DOID:14330 Parkinson's disease ISO RGD:735562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 11991814 AIF1 allograft inflammatory factor 1 gene DOID:1824 status epilepticus ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus, brain subventricular zone (rat) PMID:17178407|REF_RGD_ID:2313036 11991814 AIF1 allograft inflammatory factor 1 gene DOID:1969 cerebral palsy ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:corpus callosum (rat) PMID:19010395|REF_RGD_ID:2313028 11991814 AIF1 allograft inflammatory factor 1 gene DOID:231 motor neuron disease ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:cervical spinal cord (rat) PMID:18931666|REF_RGD_ID:2313029 11991814 AIF1 allograft inflammatory factor 1 gene DOID:2316 brain ischemia ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:18301954|REF_RGD_ID:2313032 11991814 AIF1 allograft inflammatory factor 1 gene DOID:2349 arteriosclerosis ISO RGD:62217 D RGD:9068941 20200609 RGD PMID:18204784|REF_RGD_ID:2313033 11991814 AIF1 allograft inflammatory factor 1 gene DOID:2921 glomerulonephritis ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:17035944|REF_RGD_ID:2313038 11991814 AIF1 allograft inflammatory factor 1 gene DOID:3454 brain infarction ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:brain subventricular zone (rat) PMID:19053043|REF_RGD_ID:2313025 11991814 AIF1 allograft inflammatory factor 1 gene DOID:3454 brain infarction ISO RGD:735562 D RGD:9068941 20200609 RGD protein:increased expression:brain white matter (human) PMID:10683518|REF_RGD_ID:2313026 11991814 AIF1 allograft inflammatory factor 1 gene DOID:630 genetic disease ISO RGD:735562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991814 AIF1 allograft inflammatory factor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:61924 D RGD:9068941 20200609 RGD protein:altered expression:spinal cord dorsal horn (rat) PMID:17158026|REF_RGD_ID:2313037 11991814 AIF1 allograft inflammatory factor 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:735562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27157545 11991814 AIF1 allograft inflammatory factor 1 gene DOID:9000641 Pain ISO RGD:61924 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:spinal cord dorsal horn (rat) PMID:18186080|REF_RGD_ID:2313034 11991814 AIF1 allograft inflammatory factor 1 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:61924 D RGD:9068941 20200609 RGD protein:decreased expression:brain (rat) PMID:19070908|REF_RGD_ID:2313024 11991814 AIF1 allograft inflammatory factor 1 gene DOID:9000998 Brain Injuries ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:19520144|REF_RGD_ID:2313020 11991814 AIF1 allograft inflammatory factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11991814 AIF1 allograft inflammatory factor 1 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:61924 D RGD:9068941 20200609 RGD PMID:9698327|REF_RGD_ID:704401 11991814 AIF1 allograft inflammatory factor 1 gene DOID:9002211 Hyperalgesia ISO RGD:61924 D RGD:9068941 20200609 RGD associated with Alcohol-Induced Disorders, Nervous System; protein:increased expression:spinal cord (rat) PMID:17284346|REF_RGD_ID:2313035 11991814 AIF1 allograft inflammatory factor 1 gene DOID:9002211 Hyperalgesia ISO RGD:735562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 11991814 AIF1 allograft inflammatory factor 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:61924 D RGD:9068941 20200609 RGD protein:altered expression:spinal cord (rat) PMID:19246105|REF_RGD_ID:2313022 11991814 AIF1 allograft inflammatory factor 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:right cerebral hemisphere (rat) PMID:19447505|REF_RGD_ID:2313021 11991814 AIF1 allograft inflammatory factor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:Kupffer cell (rat) PMID:16500929|REF_RGD_ID:2313040 11991814 AIF1 allograft inflammatory factor 1 gene DOID:9005372 Inflammation ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus (rat) PMID:19020040|REF_RGD_ID:2313027 11991814 AIF1 allograft inflammatory factor 1 gene DOID:9006205 Animal Disease Models ISO RGD:735562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 11991814 AIF1 allograft inflammatory factor 1 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (rat) PMID:15710454|REF_RGD_ID:2313042 11991814 AIF1 allograft inflammatory factor 1 gene DOID:9007727 Alcohol-Induced Disorders, Nervous System ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:cortex, hippocampus (rat) PMID:18585922|REF_RGD_ID:2313030 11991814 AIF1 allograft inflammatory factor 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735562 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:rs2259571 (human) PMID:18987644|REF_RGD_ID:2313199 11991814 AIF1 allograft inflammatory factor 1 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:61924 D RGD:9068941 20200609 RGD PMID:9391121|REF_RGD_ID:2313043 11991834 BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor gene DOID:0060041 autism spectrum disorder ISO RGD:1344086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 11991834 BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor gene DOID:10923 sickle cell anemia ISO RGD:1344086 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 11991834 BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor gene DOID:12849 autistic disorder ISO RGD:1344086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11991834 BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor gene DOID:1928 Williams-Beuren syndrome ISO RGD:1344086 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 11991834 BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11991834 BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor gene DOID:5419 schizophrenia ISO RGD:1344086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11991834 BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor gene DOID:630 genetic disease ISO RGD:1344086 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991834 BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor gene DOID:8445 intestinal volvulus ISO RGD:1344086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11991834 BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11991834 BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor gene DOID:9008419 Volvulus Of Midgut ISO RGD:1344086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11991856 RPP40 ribonuclease P/MRP subunit p40 gene DOID:630 genetic disease ISO RGD:1321008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991868 GSX1 GS homeobox 1 gene DOID:630 genetic disease ISO RGD:1320681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991874 JOSD1 Josephin domain containing 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1604837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11991874 JOSD1 Josephin domain containing 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1604837 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11991874 JOSD1 Josephin domain containing 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1604837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11991874 JOSD1 Josephin domain containing 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1604837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11991874 JOSD1 Josephin domain containing 1 gene DOID:630 genetic disease ISO RGD:1604837 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991882 ZC3HAV1L zinc finger CCCH-type containing, antiviral 1 like gene DOID:0080690 RASopathy ISO RGD:1601938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 11991882 ZC3HAV1L zinc finger CCCH-type containing, antiviral 1 like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11991882 ZC3HAV1L zinc finger CCCH-type containing, antiviral 1 like gene DOID:630 genetic disease ISO RGD:1601938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991891 CDK12 cyclin dependent kinase 12 gene DOID:10534 stomach cancer exacerbates ISO RGD:733880 D RGD:9068941 20220303 RGD protein:decreased expression:stomach (human) PMID:32534699|REF_RGD_ID:151361171 11991891 CDK12 cyclin dependent kinase 12 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:733880 D RGD:9068941 20220303 RGD protein:increased expression:stomach (human) PMID:31523177|REF_RGD_ID:151361173 11991891 CDK12 cyclin dependent kinase 12 gene DOID:3910 lung adenocarcinoma ISO RGD:733880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma 11991891 CDK12 cyclin dependent kinase 12 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733880 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24728327|PMID:25741868 11991891 CDK12 cyclin dependent kinase 12 gene DOID:630 genetic disease ISO RGD:733880 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991891 CDK12 cyclin dependent kinase 12 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:733880 D RGD:9068941 20220303 RGD mRNA, protein:increased expression:liver (human) PMID:31519701|REF_RGD_ID:151361172 11991891 CDK12 cyclin dependent kinase 12 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11991936 ANKRD28 ankyrin repeat domain 28 gene DOID:0060417 3p deletion syndrome ISO RGD:1343361 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 11991936 ANKRD28 ankyrin repeat domain 28 gene DOID:630 genetic disease ISO RGD:1343361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991990 NDRG2 NDRG family member 2 gene DOID:224 transient cerebral ischemia ISO RGD:732058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23451161 11991990 NDRG2 NDRG family member 2 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:732058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 11991990 NDRG2 NDRG family member 2 gene DOID:630 genetic disease ISO RGD:732058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11991990 NDRG2 NDRG family member 2 gene DOID:83 cataract ISO RGD:732058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22043305 11991990 NDRG2 NDRG family member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11991990 NDRG2 NDRG family member 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:732058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 11991990 NDRG2 NDRG family member 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:732058 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11992072 CETP cholesteryl ester transfer protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345977 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11992072 CETP cholesteryl ester transfer protein gene DOID:0111368 cholesterol-ester transfer protein deficiency ISO RGD:1345977 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CETP DEFICIENCY PMID:14559957|PMID:17190939|PMID:20068209|PMID:25741868|PMID:28492532 11992072 CETP cholesteryl ester transfer protein gene DOID:0111369 hyperalphalipoproteinemia 1 ISO RGD:1345977 D RGD:7240710 20180130 OMIM 11992072 CETP cholesteryl ester transfer protein gene DOID:0111369 hyperalphalipoproteinemia 1 ISO RGD:1345977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: High density lipoprotein cholesterol level quantitative trait locus 10 | ClinVar Annotator: match by term: Hyperalphalipoproteinemia 1 PMID:14559957|PMID:17190939|PMID:17952847|PMID:18468607|PMID:20068209|PMID:2215607|PMID:2390095|PMID:24497850|PMID:25201589|PMID:25741868|PMID:2586614|PMID:26740239|PMID:28166811|PMID:28492532|PMID:28506971|PMID:6738363|PMID:7605382|PMID:7962532|PMID:7989465|PMID:8408659 11992072 CETP cholesteryl ester transfer protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345977 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11992072 CETP cholesteryl ester transfer protein gene DOID:10763 hypertension ISO RGD:1345977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20511482 11992072 CETP cholesteryl ester transfer protein gene DOID:1168 familial hyperlipidemia ISO RGD:1345977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10519734 11992072 CETP cholesteryl ester transfer protein gene DOID:1287 cardiovascular system disease ISO RGD:1345977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16544732 11992072 CETP cholesteryl ester transfer protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1345977 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 11992072 CETP cholesteryl ester transfer protein gene DOID:1936 atherosclerosis ISO RGD:1345977 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28096968 11992072 CETP cholesteryl ester transfer protein gene DOID:3393 coronary artery disease ISO RGD:1345977 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Coronary artery disease PMID:14559957|PMID:17190939|PMID:20068209|PMID:25741868|PMID:28492532 11992072 CETP cholesteryl ester transfer protein gene DOID:3407 carotid artery disease ISO RGD:1345977 D RGD:9068941 20200609 RGD PMID:10619997|REF_RGD_ID:1580359 11992072 CETP cholesteryl ester transfer protein gene DOID:630 genetic disease ISO RGD:1345977 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28106320|PMID:28492532 11992072 CETP cholesteryl ester transfer protein gene DOID:684 hepatocellular carcinoma ISO RGD:1345977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11992072 CETP cholesteryl ester transfer protein gene DOID:9003370 Dyslipidemias ISO RGD:1345977 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dyslipidemia 11992072 CETP cholesteryl ester transfer protein gene DOID:9004581 Pediatric Obesity ISO RGD:1345977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25137265 11992072 CETP cholesteryl ester transfer protein gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:1345977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16030523 11992072 CETP cholesteryl ester transfer protein gene DOID:9006205 Animal Disease Models ISO RGD:1345977 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28096968 11992072 CETP cholesteryl ester transfer protein gene DOID:9006599 Hypertriglyceridemia ISO RGD:1345977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12754275 11992072 CETP cholesteryl ester transfer protein gene DOID:9007571 Hyperlipoproteinemias ISO RGD:1345977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2215607|PMID:8408659 11992093 LOC100984737 acetylcholine receptor subunit epsilon gene DOID:0050941 spastic ataxia 2 ISO RGD:734106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 11992093 LOC100984737 acetylcholine receptor subunit epsilon gene DOID:0110662 congenital myasthenic syndrome 1B ISO RGD:734106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 1B, fast-channel PMID:17878953|PMID:26467025|PMID:28492532|PMID:8755487 11992093 LOC100984737 acetylcholine receptor subunit epsilon gene DOID:0110663 congenital myasthenic syndrome 1A ISO RGD:734106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic slow-channel PMID:20301347|PMID:20562457|PMID:22678886|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29054425|PMID:29383513|PMID:9708546 11992093 LOC100984737 acetylcholine receptor subunit epsilon gene DOID:0110677 congenital myasthenic syndrome 4B ISO RGD:734106 D RGD:7240710 20180214 OMIM 11992093 LOC100984737 acetylcholine receptor subunit epsilon gene DOID:0110677 congenital myasthenic syndrome 4B ISO RGD:734106 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4B | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4b, fast-channel PMID:10211467|PMID:10382905|PMID:10496269|PMID:10514102|PMID:10534268|PMID:10962020|PMID:11030414|PMID:11960891|PMID:12417530|PMID:15322984|PMID:15367858|PMID:15951177|PMID:16087917|PMID:17878953|PMID:18414213|PMID:19064877|PMID:19544078|PMID:20301347|PMID:20562457|PMID:21175599|PMID:21940170|PMID:22592360|PMID:22678886|PMID:24033266|PMID:24295813|PMID:25326635|PMID:25741868|PMID:26467025|PMID:27634344|PMID:28024842|PMID:28492532|PMID:29054425|PMID:29189923|PMID:29383513|PMID:31980526|PMID:8232384|PMID:8663316|PMID:8755487|PMID:8957026|PMID:9097970|PMID:9158150|PMID:9443457|PMID:9606190|PMID:9668239|PMID:9708546 11992093 LOC100984737 acetylcholine receptor subunit epsilon gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:734106 D RGD:7240710 20180130 OMIM 11992093 LOC100984737 acetylcholine receptor subunit epsilon gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:734106 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel PMID:10211467|PMID:10382905|PMID:10496269|PMID:10514102|PMID:10534268|PMID:10962020|PMID:11030414|PMID:11408331|PMID:11960891|PMID:12034803|PMID:12141316|PMID:12356851|PMID:12417530|PMID:12536367|PMID:14532324|PMID:14592868|PMID:15145336|PMID:15322984|PMID:15367858|PMID:15951177|PMID:16061559|PMID:16087917|PMID:16198106|PMID:16199547|PMID:16550914|PMID:17576681|PMID:17878953|PMID:18414213|PMID:19064877|PMID:19153382|PMID:19289485|PMID:19544078|PMID:20157724|PMID:20301347|PMID:20562457|PMID:21150643|PMID:21175599|PMID:21520333|PMID:21822932|PMID:21940170|PMID:22178625|PMID:22382357|PMID:22678886|PMID:22865819|PMID:24033266|PMID:24295813|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26284228|PMID:26467025|PMID:27634344|PMID:27717316|PMID:27779167|PMID:28024842|PMID:28464723|PMID:28492532|PMID:29054425|PMID:29189923|PMID:29367459|PMID:29383513|PMID:29702980|PMID:30124556|PMID:30542963|PMID:30898524|PMID:30931400|PMID:31773638|PMID:31980526|PMID:32721234|PMID:33756069|PMID:3651795|PMID:7531341|PMID:7538206|PMID:7863154|PMID:8232384|PMID:8663316|PMID:8755487|PMID:8872460|PMID:8957026|PMID:9097970|PMID:9158150|PMID:9443457|PMID:9536098|PMID:9539130|PMID:9606190|PMID:9668239|PMID:9708546 11992093 LOC100984737 acetylcholine receptor subunit epsilon gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:734106 D RGD:7240710 20180130 OMIM 11992093 LOC100984737 acetylcholine receptor subunit epsilon gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:734106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic, associated with acetylcholine receptor deficiency PMID:10211467|PMID:10496269|PMID:10514102|PMID:10534268|PMID:11030414|PMID:12417530|PMID:14532324|PMID:15322984|PMID:15367858|PMID:15951177|PMID:16087917|PMID:16199547|PMID:16550914|PMID:17576681|PMID:17878953|PMID:18414213|PMID:19064877|PMID:19544078|PMID:20301347|PMID:20562457|PMID:21175599|PMID:21940170|PMID:22678886|PMID:24033266|PMID:24295813|PMID:25326635|PMID:25741868|PMID:26467025|PMID:27634344|PMID:28024842|PMID:28492532|PMID:29054425|PMID:29189923|PMID:29383513|PMID:31980526|PMID:8755487|PMID:8957026|PMID:9097970|PMID:9158150|PMID:9443457|PMID:9536098|PMID:9668239|PMID:9708546 11992093 LOC100984737 acetylcholine receptor subunit epsilon gene DOID:3635 congenital myasthenic syndrome ISO RGD:734106 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital PMID:10496269|PMID:10514102|PMID:10534268|PMID:11030414|PMID:11408331|PMID:12141316|PMID:12417530|PMID:12536367|PMID:15322984|PMID:15367858|PMID:15951177|PMID:16087917|PMID:16199547|PMID:17363247|PMID:17576681|PMID:17878953|PMID:18414213|PMID:19064877|PMID:19153382|PMID:19544078|PMID:20157724|PMID:20301347|PMID:20562457|PMID:21150643|PMID:21175599|PMID:21940170|PMID:22382357|PMID:22678886|PMID:22865819|PMID:24033266|PMID:24295813|PMID:25326635|PMID:25741868|PMID:26284228|PMID:26467025|PMID:27634344|PMID:27717316|PMID:28024842|PMID:28464723|PMID:28492532|PMID:29054425|PMID:29189923|PMID:29383513|PMID:31980526|PMID:8755487|PMID:8957026|PMID:9097970|PMID:9158150|PMID:9443457|PMID:9536098|PMID:9539130|PMID:9668239|PMID:9708546 11992093 LOC100984737 acetylcholine receptor subunit epsilon gene DOID:630 genetic disease ISO RGD:734106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11992093 LOC100984737 acetylcholine receptor subunit epsilon gene DOID:9006988 Congenital Myasthenic Syndrome, Fast-Channel ISO RGD:734106 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11992109 SEC16B SEC16 homolog B, endoplasmic reticulum export factor gene DOID:1540 parathyroid carcinoma ISO RGD:737396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11992109 SEC16B SEC16 homolog B, endoplasmic reticulum export factor gene DOID:630 genetic disease ISO RGD:737396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11992109 SEC16B SEC16 homolog B, endoplasmic reticulum export factor gene DOID:9007633 Body Weight ISO RGD:737396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344219|PMID:22344221 11992109 SEC16B SEC16 homolog B, endoplasmic reticulum export factor gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:737396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11992109 SEC16B SEC16 homolog B, endoplasmic reticulum export factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11992157 SLC26A5 solute carrier family 26 member 5 gene DOID:0060902 Norman-Roberts syndrome ISO RGD:1603482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:10973257|PMID:17124408|PMID:26046367|PMID:28454995|PMID:28492532 11992157 SLC26A5 solute carrier family 26 member 5 gene DOID:0110513 autosomal recessive nonsyndromic deafness 61 ISO RGD:1603482 D RGD:7240710 20180130 OMIM 11992157 SLC26A5 solute carrier family 26 member 5 gene DOID:0110513 autosomal recessive nonsyndromic deafness 61 ISO RGD:1603482 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 61 PMID:12719379|PMID:16086836|PMID:24033266|PMID:24164807|PMID:25262649|PMID:25741868|PMID:26467025|PMID:28492532 11992157 SLC26A5 solute carrier family 26 member 5 gene DOID:10003 sensorineural hearing loss ISO RGD:1621439 D RGD:9068941 20200609 RGD mRNA:decreased expression:organ of Corti (mouse) PMID:19363478|REF_RGD_ID:9585667 11992157 SLC26A5 solute carrier family 26 member 5 gene DOID:1459 hypothyroidism ISO RGD:1621439 D RGD:9068941 20200609 RGD Secondary Hypothyroidism;protein:altered expression:cochlear outer hair cell (mouse) PMID:19176829|REF_RGD_ID:9585687 11992157 SLC26A5 solute carrier family 26 member 5 gene DOID:1459 hypothyroidism ISO RGD:69334 D RGD:9068941 20200609 RGD protein:altered expression:cochlear outer hair cell (rat) PMID:17520268|REF_RGD_ID:9585686 11992157 SLC26A5 solute carrier family 26 member 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11992157 SLC26A5 solute carrier family 26 member 5 gene DOID:630 genetic disease ISO RGD:1603482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11992157 SLC26A5 solute carrier family 26 member 5 gene DOID:9000307 Presbycusis ISO RGD:69334 D RGD:9068941 20200609 RGD protein:altered expression:cochlear outer hair cell (rat) PMID:19111601|REF_RGD_ID:9585690 11992157 SLC26A5 solute carrier family 26 member 5 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1621439 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cochlea (mouse) PMID:24376553|REF_RGD_ID:9585684 11992157 SLC26A5 solute carrier family 26 member 5 gene DOID:9004538 Hearing Loss ISO RGD:1603482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:30311386 11992157 SLC26A5 solute carrier family 26 member 5 gene DOID:9004538 Hearing Loss no_association ISO RGD:1603482 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS2-2A>G (human) PMID:16086836|REF_RGD_ID:9479051 11992157 SLC26A5 solute carrier family 26 member 5 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1603482 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS2-2A>G (human) PMID:23554706|REF_RGD_ID:7364803 11992157 SLC26A5 solute carrier family 26 member 5 gene DOID:9008681 Deafness ISO RGD:1603482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12719379 11992196 LOC100986112 olfactory receptor 52N1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1348757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11992196 LOC100986112 olfactory receptor 52N1 gene DOID:630 genetic disease ISO RGD:1348757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11992199 SLITRK2 SLIT and NTRK like family member 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11992199 SLITRK2 SLIT and NTRK like family member 2 gene DOID:1059 intellectual disability ISO RGD:1344547 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual disability 11992199 SLITRK2 SLIT and NTRK like family member 2 gene DOID:12849 autistic disorder ISO RGD:1344547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11992199 SLITRK2 SLIT and NTRK like family member 2 gene DOID:630 genetic disease ISO RGD:1344547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11992199 SLITRK2 SLIT and NTRK like family member 2 gene DOID:9007793 X-Linked Intellectual Developmental Disorder 111 ISO RGD:1344547 D RGD:7240710 20230505 OMIM 11992213 ACTL8 actin like 8 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602092 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11992213 ACTL8 actin like 8 gene DOID:630 genetic disease ISO RGD:1602092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11992220 PEX26 peroxisomal biogenesis factor 26 gene DOID:0050444 infantile Refsum disease ISO RGD:1350248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:12717447|PMID:12851857|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16257970|PMID:19105186|PMID:19877282|PMID:21031596|PMID:25741868|PMID:26287655|PMID:26627908|PMID:27392320|PMID:28492532|PMID:28944237|PMID:29947050|PMID:30366024|PMID:30446579|PMID:9090381 11992220 PEX26 peroxisomal biogenesis factor 26 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1350248 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12851857 11992220 PEX26 peroxisomal biogenesis factor 26 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1350248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) PMID:16257970|PMID:25741868|PMID:28492532 11992220 PEX26 peroxisomal biogenesis factor 26 gene DOID:0080482 peroxisome biogenesis disorder 7A ISO RGD:1350248 D RGD:7240710 20180130 OMIM 11992220 PEX26 peroxisomal biogenesis factor 26 gene DOID:0080482 peroxisome biogenesis disorder 7A ISO RGD:1350248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A (Zellweger) PMID:12717447|PMID:12851857|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16257970|PMID:17336976|PMID:17576681|PMID:19105186|PMID:19877282|PMID:21031596|PMID:25016021|PMID:25640679|PMID:25741868|PMID:26287655|PMID:26627908|PMID:27392320|PMID:28492532|PMID:28944237|PMID:29947050|PMID:30366024|PMID:30446579|PMID:32140910|PMID:32552793|PMID:9090381|PMID:9536098 11992220 PEX26 peroxisomal biogenesis factor 26 gene DOID:0080623 Heimler syndrome 1 ISO RGD:1350248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heimler syndrome 1 PMID:28492532 11992220 PEX26 peroxisomal biogenesis factor 26 gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:1350248 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:25741868|PMID:28492532 11992220 PEX26 peroxisomal biogenesis factor 26 gene DOID:0111996 immunodeficiency 51 ISO RGD:1350248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11992220 PEX26 peroxisomal biogenesis factor 26 gene DOID:10588 adrenoleukodystrophy ISO RGD:1350248 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12851857 11992220 PEX26 peroxisomal biogenesis factor 26 gene DOID:11198 DiGeorge syndrome ISO RGD:1350248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 11992220 PEX26 peroxisomal biogenesis factor 26 gene DOID:630 genetic disease ISO RGD:1350248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11992220 PEX26 peroxisomal biogenesis factor 26 gene DOID:9002413 Peroxisome Biogenesis Disorder 7B ISO RGD:1350248 D RGD:7240710 20180130 OMIM 11992220 PEX26 peroxisomal biogenesis factor 26 gene DOID:9002413 Peroxisome Biogenesis Disorder 7B ISO RGD:1350248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7B PMID:12717447|PMID:12851857|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16257970|PMID:19105186|PMID:19877282|PMID:21031596|PMID:25016021|PMID:25741868|PMID:26287655|PMID:26627908|PMID:27392320|PMID:28492532|PMID:28944237|PMID:29947050|PMID:30366024|PMID:30446579|PMID:9090381 11992220 PEX26 peroxisomal biogenesis factor 26 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11992220 PEX26 peroxisomal biogenesis factor 26 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1350248 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 11992220 PEX26 peroxisomal biogenesis factor 26 gene DOID:905 Zellweger syndrome ISO RGD:1350248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:12717447|PMID:12851857|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16257970|PMID:19105186|PMID:19877282|PMID:21031596|PMID:25741868|PMID:26287655|PMID:26627908|PMID:27392320|PMID:28492532|PMID:28944237|PMID:29947050|PMID:30366024|PMID:30446579|PMID:9090381 11992230 LOC100987081 HLA class II histocompatibility antigen, DR alpha chain gene DOID:0050553 JMP syndrome ISO RGD:1344093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11992230 LOC100987081 HLA class II histocompatibility antigen, DR alpha chain gene DOID:0060892 late onset Parkinson's disease ISO RGD:1344093 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs3129882) (human) PMID:21791235|REF_RGD_ID:5490156 11992230 LOC100987081 HLA class II histocompatibility antigen, DR alpha chain gene DOID:11716 prediabetes syndrome ISO RGD:1593283 D RGD:9068941 20200609 RGD mRNA:increased expression:spleen, lymphocyte PMID:3142800|REF_RGD_ID:5147592 11992230 LOC100987081 HLA class II histocompatibility antigen, DR alpha chain gene DOID:1205 allergic disease ISO RGD:1344093 D RGD:9068941 20200609 RGD PMID:9104792|REF_RGD_ID:5490205 11992230 LOC100987081 HLA class II histocompatibility antigen, DR alpha chain gene DOID:14115 toxic shock syndrome ISO RGD:1344093 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28771573 11992230 LOC100987081 HLA class II histocompatibility antigen, DR alpha chain gene DOID:14115 toxic shock syndrome ISO RGD:1344093 D RGD:9068941 20200609 RGD associated with Burns PMID:17568330|REF_RGD_ID:5490160 11992230 LOC100987081 HLA class II histocompatibility antigen, DR alpha chain gene DOID:14115 toxic shock syndrome disease_progression ISO RGD:1344093 D RGD:9068941 20200609 RGD PMID:15644645|REF_RGD_ID:5490203 11992230 LOC100987081 HLA class II histocompatibility antigen, DR alpha chain gene DOID:14330 Parkinson's disease ISO RGD:1344093 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20711177 11992230 LOC100987081 HLA class II histocompatibility antigen, DR alpha chain gene DOID:14330 Parkinson's disease onset ISO RGD:1344093 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs3129882) (human) PMID:20711177|REF_RGD_ID:5490158 11992230 LOC100987081 HLA class II histocompatibility antigen, DR alpha chain gene DOID:2377 multiple sclerosis ISO RGD:1344093 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17660530 11992230 LOC100987081 HLA class II histocompatibility antigen, DR alpha chain gene DOID:2377 multiple sclerosis ISO RGD:1344093 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:c.*406+228A>G (rs3135388) (human) PMID:19834503|REF_RGD_ID:5490202 11992230 LOC100987081 HLA class II histocompatibility antigen, DR alpha chain gene DOID:2377 multiple sclerosis ISO RGD:1344093 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:17660530|REF_RGD_ID:5490159 11992230 LOC100987081 HLA class II histocompatibility antigen, DR alpha chain gene DOID:2377 multiple sclerosis ISO RGD:1344093 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter (human) PMID:10527398|REF_RGD_ID:5490204 11992230 LOC100987081 HLA class II histocompatibility antigen, DR alpha chain gene DOID:2841 asthma susceptibility ISO RGD:1344093 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:20159242|REF_RGD_ID:13506913 11992230 LOC100987081 HLA class II histocompatibility antigen, DR alpha chain gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1344093 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19635508|REF_RGD_ID:5490168 11992230 LOC100987081 HLA class II histocompatibility antigen, DR alpha chain gene DOID:3312 bipolar disorder ISO RGD:1344093 D RGD:9068941 20200609 RGD PMID:16687443|REF_RGD_ID:5490162 11992230 LOC100987081 HLA class II histocompatibility antigen, DR alpha chain gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1344093 D RGD:9068941 20200609 RGD PMID:21427211|REF_RGD_ID:5490157 11992230 LOC100987081 HLA class II histocompatibility antigen, DR alpha chain gene DOID:7188 autoimmune thyroiditis ISO RGD:1344093 D RGD:9068941 20200609 RGD PMID:12126634|REF_RGD_ID:5147805 11992230 LOC100987081 HLA class II histocompatibility antigen, DR alpha chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1593283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11992230 LOC100987081 HLA class II histocompatibility antigen, DR alpha chain gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1344093 D RGD:9068941 20200609 RGD PMID:8676084|REF_RGD_ID:5490166 11992230 LOC100987081 HLA class II histocompatibility antigen, DR alpha chain gene DOID:9006961 Asthma and Nasal Polyps susceptibility ISO RGD:1344093 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype:introns: PMID:22391069|REF_RGD_ID:13506908 11992230 LOC100987081 HLA class II histocompatibility antigen, DR alpha chain gene DOID:9744 type 1 diabetes mellitus ISO RGD:1558302 D RGD:9068941 20200609 RGD PMID:11812739|REF_RGD_ID:5490164 11992239 UBTF upstream binding transcription factor gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:734082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 11992239 UBTF upstream binding transcription factor gene DOID:630 genetic disease ISO RGD:734082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28191890|PMID:28777933|PMID:29300972|PMID:30517966|PMID:31931739|PMID:33026538 11992239 UBTF upstream binding transcription factor gene DOID:9003936 Cardiomegaly ISO RGD:737074 D RGD:9068941 20200609 RGD PMID:12885411|REF_RGD_ID:1580791 11992239 UBTF upstream binding transcription factor gene DOID:9008006 Childhood-Onset Neurodegeneration with Brain Atrophy ISO RGD:734082 D RGD:7240710 20190315 OMIM 11992239 UBTF upstream binding transcription factor gene DOID:9008006 Childhood-Onset Neurodegeneration with Brain Atrophy ISO RGD:734082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY | ClinVar Annotator: match by term: UBTF-Related Disorder PMID:24033266|PMID:25741868|PMID:28191890|PMID:28777933|PMID:29300972|PMID:30517966|PMID:31931739|PMID:33026538 11992270 PTGES prostaglandin E synthase gene DOID:0060041 autism spectrum disorder ISO RGD:69032 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11992270 PTGES prostaglandin E synthase gene DOID:0060074 ductal carcinoma in situ ISO RGD:69032 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:16353170|REF_RGD_ID:2300083 11992270 PTGES prostaglandin E synthase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:69032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11992270 PTGES prostaglandin E synthase gene DOID:11111 hydronephrosis ISO RGD:69032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22430074|PMID:25015655 11992270 PTGES prostaglandin E synthase gene DOID:11624 penile benign neoplasm ISO RGD:69032 D RGD:9068941 20200609 RGD protein:increased expression:penis, skin PMID:14871981|REF_RGD_ID:2300087 11992270 PTGES prostaglandin E synthase gene DOID:13976 peptic esophagitis ISO RGD:62076 D RGD:9068941 20200609 RGD protein:increased expression:esophagus PMID:16210398|REF_RGD_ID:2300085 11992270 PTGES prostaglandin E synthase gene DOID:2152 ovary epithelial cancer ISO RGD:69032 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:17107625|REF_RGD_ID:2300080 11992270 PTGES prostaglandin E synthase gene DOID:2615 papilloma ISO RGD:62076 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:16621493|REF_RGD_ID:1642457 11992270 PTGES prostaglandin E synthase gene DOID:2671 transitional cell carcinoma ISO RGD:62076 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:16621493|REF_RGD_ID:1642457 11992270 PTGES prostaglandin E synthase gene DOID:2671 transitional cell carcinoma ISO RGD:69032 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:14499677|REF_RGD_ID:2300088 11992270 PTGES prostaglandin E synthase gene DOID:2870 endometrial adenocarcinoma ISO RGD:69032 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:11592775|REF_RGD_ID:2300089 11992270 PTGES prostaglandin E synthase gene DOID:289 endometriosis ISO RGD:69032 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:epithelial cell PMID:17295901|REF_RGD_ID:2300079 11992270 PTGES prostaglandin E synthase gene DOID:326 ischemia ISO RGD:62076 D RGD:9068941 20200609 RGD PMID:12431630|REF_RGD_ID:2300116 11992270 PTGES prostaglandin E synthase gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:69032 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20592629|REF_RGD_ID:5135302 11992270 PTGES prostaglandin E synthase gene DOID:630 genetic disease ISO RGD:69032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11992270 PTGES prostaglandin E synthase gene DOID:8719 in situ carcinoma ISO RGD:69032 D RGD:9068941 20200609 RGD protein:increased expression:penis, skin PMID:14871981|REF_RGD_ID:2300087 11992270 PTGES prostaglandin E synthase gene DOID:8719 in situ carcinoma ISO RGD:69032 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:14499677|REF_RGD_ID:2300088 11992270 PTGES prostaglandin E synthase gene DOID:9000972 Fever ISO RGD:69032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25164664 11992270 PTGES prostaglandin E synthase gene DOID:9002331 Knee Osteoarthritis ISO RGD:62076 D RGD:9068941 20200609 RGD PMID:17530714|REF_RGD_ID:2300093 11992270 PTGES prostaglandin E synthase gene DOID:9002457 Experimental Arthritis ISO RGD:62076 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:paw PMID:12707354|REF_RGD_ID:2300108 11992270 PTGES prostaglandin E synthase gene DOID:9004009 Reperfusion Injury ISO RGD:62076 D RGD:9068941 20200609 RGD PMID:12431630|REF_RGD_ID:2300116 11992270 PTGES prostaglandin E synthase gene DOID:9004009 Reperfusion Injury ISO RGD:62368 D RGD:9068941 20200609 RGD PMID:16864802|REF_RGD_ID:2300094 11992270 PTGES prostaglandin E synthase gene DOID:9005274 Polyuria ISO RGD:69032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19692487 11992270 PTGES prostaglandin E synthase gene DOID:9005372 Inflammation ISO RGD:62076 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, paw, spinal cord PMID:15044444|REF_RGD_ID:2300106 11992270 PTGES prostaglandin E synthase gene DOID:9005372 Inflammation ISO RGD:69032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25314295 11992270 PTGES prostaglandin E synthase gene DOID:9008939 Breast Neoplasms ISO RGD:69032 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:16353170|REF_RGD_ID:2300083 11992270 PTGES prostaglandin E synthase gene DOID:9206 Barrett's esophagus ISO RGD:62076 D RGD:9068941 20200609 RGD mRNA:increased expression:esophagus PMID:14684572|REF_RGD_ID:2300107 11992278 ABCD2 ATP binding cassette subfamily D member 2 gene DOID:1459 hypothyroidism treatment ISO RGD:730968 D RGD:9068941 20200609 RGD PMID:28200172|REF_RGD_ID:13673918 11992278 ABCD2 ATP binding cassette subfamily D member 2 gene DOID:630 genetic disease ISO RGD:730967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11992278 ABCD2 ATP binding cassette subfamily D member 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730967 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 11992292 PELP1 proline, glutamate and leucine rich protein 1 gene DOID:630 genetic disease ISO RGD:1604366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11992292 PELP1 proline, glutamate and leucine rich protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1604366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11992318 FAM9A family with sequence similarity 9 member A gene DOID:12849 autistic disorder ISO RGD:1348978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11992318 FAM9A family with sequence similarity 9 member A gene DOID:630 genetic disease ISO RGD:1348978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11992318 FAM9A family with sequence similarity 9 member A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11992331 CENPM centromere protein M gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11992331 CENPM centromere protein M gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1316428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 11992331 CENPM centromere protein M gene DOID:1059 intellectual disability ISO RGD:1316428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11992331 CENPM centromere protein M gene DOID:630 genetic disease ISO RGD:1316428 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11992331 CENPM centromere protein M gene DOID:684 hepatocellular carcinoma ISO RGD:1316428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11992346 TSPAN4 tetraspanin 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1314069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11992346 TSPAN4 tetraspanin 4 gene DOID:0080773 delta beta-thalassemia ISO RGD:1314069 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11992346 TSPAN4 tetraspanin 4 gene DOID:0111969 immunodeficiency 39 ISO RGD:1314069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11992346 TSPAN4 tetraspanin 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1314069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11992346 TSPAN4 tetraspanin 4 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1314069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11992346 TSPAN4 tetraspanin 4 gene DOID:630 genetic disease ISO RGD:1314069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11992346 TSPAN4 tetraspanin 4 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1314069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11992394 NCS1 neuronal calcium sensor 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:68618 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11992394 NCS1 neuronal calcium sensor 1 gene DOID:630 genetic disease ISO RGD:68618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11992409 PUS1 pseudouridine synthase 1 gene DOID:0080099 myopathy, lactic acidosis, and sideroblastic anemia ISO RGD:1323553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia PMID:28492532 11992409 PUS1 pseudouridine synthase 1 gene DOID:0111185 myopathy, lactic acidosis, and sideroblastic anemia 1 ISO RGD:1323553 D RGD:7240710 20190320 OMIM 11992409 PUS1 pseudouridine synthase 1 gene DOID:0111185 myopathy, lactic acidosis, and sideroblastic anemia 1 ISO RGD:1323553 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 1 PMID:14981724|PMID:15108122|PMID:15772074|PMID:15971356|PMID:17056637|PMID:18648068|PMID:19731322|PMID:23707380|PMID:25058219|PMID:25227147|PMID:25326637|PMID:25741868|PMID:26556812|PMID:28492532|PMID:7726239 11992409 PUS1 pseudouridine synthase 1 gene DOID:630 genetic disease ISO RGD:1323553 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11992409 PUS1 pseudouridine synthase 1 gene DOID:699 mitochondrial myopathy ISO RGD:1323553 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial Myopathies PMID:25741868|PMID:28492532 11992409 PUS1 pseudouridine synthase 1 gene DOID:8955 sideroblastic anemia ISO RGD:1323553 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sideroblastic anemia PMID:25741868|PMID:28492532 11992409 PUS1 pseudouridine synthase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1323553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11992409 PUS1 pseudouridine synthase 1 gene DOID:9000918 Disease Progression ISO RGD:1323553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11992409 PUS1 pseudouridine synthase 1 gene DOID:9256 colorectal cancer ISO RGD:1323553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 11992422 RCC2 regulator of chromosome condensation 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603393 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11992422 RCC2 regulator of chromosome condensation 2 gene DOID:10283 prostate cancer ISO RGD:1603393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11992422 RCC2 regulator of chromosome condensation 2 gene DOID:630 genetic disease ISO RGD:1603393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:0050700 cardiomyopathy ISO RGD:1352615 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33171190 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1352615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625222 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:0060041 autism spectrum disorder ISO RGD:1352615 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:12236 primary biliary cholangitis ISO RGD:1352615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15542527 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:12466 secondary hyperparathyroidism treatment ISO RGD:631345 D RGD:9068941 20200609 RGD PMID:27988213|REF_RGD_ID:13450940 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:13189 gout ISO RGD:1352615 D RGD:7240710 20181003 OMIM 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:13189 gout ISO RGD:1352615 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: GOUT SUSCEPTIBILITY 1 | ClinVar Annotator: match by term: Uric acid concentration, serum, quantitative trait locus 1 PMID:16702730|PMID:16784736|PMID:18834626|PMID:19474787|PMID:19506252|PMID:20130569|PMID:20207952|PMID:20368174|PMID:20679960|PMID:22112610|PMID:22246505|PMID:22246507|PMID:22992668|PMID:23876492|PMID:23930675|PMID:25630984|PMID:25741868|PMID:28322941|PMID:29751792|PMID:29950617|PMID:31857620|PMID:32361904 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:13189 gout susceptibility ISO RGD:1352615 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs2231142(human) PMID:19506252|REF_RGD_ID:13439747 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:13250 diarrhea ISO RGD:1352615 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32387182 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:13270 erythropoietic protoporphyria ISO RGD:1551496 D RGD:9068941 20220825 MouseDO OMIM:177000 | OMIM:300752 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:1824 status epilepticus ISO RGD:631345 D RGD:9068941 20200609 RGD protein:increased expression:brain, astrocyte PMID:16190927|REF_RGD_ID:2315587 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:1920 hyperuricemia ISO RGD:1352615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21821808 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:1920 hyperuricemia ISO RGD:1551496 D RGD:9068941 20220825 MouseDO 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:3459 breast carcinoma ISO RGD:1352615 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:11948115|REF_RGD_ID:2315568 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:3602 toxic encephalopathy susceptibility ISO RGD:1352615 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :421C>A(human) PMID:17938643|REF_RGD_ID:11081146 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:1352615 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.Q141K (human) PMID:15906349|REF_RGD_ID:2315569 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1352615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25275603 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1352615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20019844 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1352615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:6000 congestive heart failure ISO RGD:1352615 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:630 genetic disease ISO RGD:1352615 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:657 adenoma ISO RGD:1352615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21544799 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:707 B-cell lymphoma susceptibility ISO RGD:1352615 D RGD:9068941 20200609 RGD DNA:SNP: :rs6857600(human) PMID:21918980|REF_RGD_ID:11080977 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:7148 rheumatoid arthritis ISO RGD:1352615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:1352615 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :C>A421(human) PMID:26250462|REF_RGD_ID:11081180 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:1352615 D RGD:9068941 20200609 RGD DNA:SNP: :421C>A(human) PMID:24581936|REF_RGD_ID:11081178 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:1352615 D RGD:9068941 20200609 RGD DNA:haplotype:cds: p.Q141K,p.V12M,(rs2231142),(rs2725252)(human) PMID:24123600|REF_RGD_ID:11081181 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:863 nervous system disease ISO RGD:1352615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:8761 acute megakaryocytic leukemia ISO RGD:1352615 D RGD:9068941 20200609 RGD PMID:21640380|REF_RGD_ID:11081147 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1352615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia susceptibility ISO RGD:1352615 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: :rs1481012,rs2231142(human) PMID:21918980|REF_RGD_ID:11080977 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:9002457 Experimental Arthritis ISO RGD:631345 D RGD:9068941 20200609 RGD mRNA:decreased expression:small intestine PMID:19152228|REF_RGD_ID:2315573 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:9002762 Ovarian Neoplasms ISO RGD:1352615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:16702730|PMID:16784736|PMID:18834626|PMID:19474787|PMID:19506252|PMID:20130569|PMID:20207952|PMID:20368174|PMID:20679960|PMID:22112610|PMID:22992668|PMID:23876492|PMID:23930675|PMID:25630984|PMID:28322941|PMID:29751792|PMID:29950617|PMID:31857620|PMID:32361904 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:9004009 Reperfusion Injury ISO RGD:631345 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, altered localization:small intestine PMID:18451542|REF_RGD_ID:2315580 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1352615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22767648 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:631345 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex PMID:17915193|REF_RGD_ID:2315584 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1352615 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:21064136|PMID:32387182 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:9008443 Colorectal Neoplasms ISO RGD:1352615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21544799|PMID:22294766 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:9008691 Liver Injury ISO RGD:631345 D RGD:9068941 20200609 RGD PMID:12819005|REF_RGD_ID:1304394 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:9008939 Breast Neoplasms ISO RGD:1352615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10930538 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1352615 D RGD:9068941 20200609 RGD PMID:26512967|REF_RGD_ID:11081145 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1352615 D RGD:9068941 20200609 RGD PMID:12145683|REF_RGD_ID:11099971 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:9351 diabetes mellitus ISO RGD:631345 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:28679589|REF_RGD_ID:13439745 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:9352 type 2 diabetes mellitus ISO RGD:631345 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:25152023|REF_RGD_ID:14700811 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:9538 multiple myeloma treatment ISO RGD:1352615 D RGD:9068941 20200609 RGD PMID:16917002|PMID:26314844|REF_RGD_ID:11081075|REF_RGD_ID:11081144 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1352615 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell: PMID:12100141|REF_RGD_ID:11081143 11992437 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:1352615 D RGD:9068941 20200609 RGD PMID:15521915|REF_RGD_ID:11081076 11992472 HOPX HOP homeobox gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1603377 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:28492532 11992472 HOPX HOP homeobox gene DOID:630 genetic disease ISO RGD:1603377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11992472 HOPX HOP homeobox gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603377 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11992533 KCTD7 potassium channel tetramerization domain containing 7 gene DOID:0111446 progressive myoclonus epilepsy 3 ISO RGD:1314738 D RGD:7240710 20180130 OMIM 11992533 KCTD7 potassium channel tetramerization domain containing 7 gene DOID:0111446 progressive myoclonus epilepsy 3 ISO RGD:1314738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 | ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS PMID:16199547|PMID:17455289|PMID:17576681|PMID:18414213|PMID:22606975|PMID:22638565|PMID:22693283|PMID:22748208|PMID:25060828|PMID:25326635|PMID:25533962|PMID:25640679|PMID:25741868|PMID:25976102|PMID:26467025|PMID:26795593|PMID:27742667|PMID:28492532|PMID:29056246|PMID:29302074|PMID:29619247|PMID:29655203|PMID:30295347|PMID:30500434|PMID:30776697|PMID:30825425|PMID:30919572|PMID:31130284|PMID:31216804|PMID:31965297|PMID:32412666|PMID:32581362|PMID:34866617|PMID:9536098 11992533 KCTD7 potassium channel tetramerization domain containing 7 gene DOID:1059 intellectual disability ISO RGD:1314738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 11992533 KCTD7 potassium channel tetramerization domain containing 7 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1314738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:22748208|PMID:25741868|PMID:25976102|PMID:27742667|PMID:28492532|PMID:30295347|PMID:31130284 11992533 KCTD7 potassium channel tetramerization domain containing 7 gene DOID:14755 argininosuccinic aciduria ISO RGD:1314738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency PMID:28492532 11992533 KCTD7 potassium channel tetramerization domain containing 7 gene DOID:1826 epilepsy ISO RGD:1314738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:26467025|PMID:28492532 11992533 KCTD7 potassium channel tetramerization domain containing 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11992533 KCTD7 potassium channel tetramerization domain containing 7 gene DOID:630 genetic disease ISO RGD:1314738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:22693283|PMID:22748208|PMID:25060828|PMID:25533962|PMID:25741868|PMID:25976102|PMID:26467025|PMID:26795593|PMID:27742667|PMID:28492532|PMID:29056246|PMID:30295347|PMID:30825425|PMID:30919572|PMID:31130284|PMID:32412666|PMID:32581362 11992533 KCTD7 potassium channel tetramerization domain containing 7 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1314738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy 11992533 KCTD7 potassium channel tetramerization domain containing 7 gene DOID:9001793 Generalized Epilepsy ISO RGD:1314738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532|PMID:30295347|PMID:32581362 11992541 TEX2 testis expressed 2 gene DOID:0080600 COVID-19 ISO RGD:1603633 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11992541 TEX2 testis expressed 2 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1603633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 11992541 TEX2 testis expressed 2 gene DOID:630 genetic disease ISO RGD:1603633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11992567 NOP53 NOP53 ribosome biogenesis factor gene DOID:11612 polycystic ovary syndrome ISO RGD:1353107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11992567 NOP53 NOP53 ribosome biogenesis factor gene DOID:630 genetic disease ISO RGD:1353107 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11992582 GCSAML germinal center associated signaling and motility like gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1605281 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11992582 GCSAML germinal center associated signaling and motility like gene DOID:1540 parathyroid carcinoma ISO RGD:1605281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11992582 GCSAML germinal center associated signaling and motility like gene DOID:630 genetic disease ISO RGD:1605281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11992582 GCSAML germinal center associated signaling and motility like gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1605281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome PMID:28492532 11992582 GCSAML germinal center associated signaling and motility like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11992607 FOXN4 forkhead box N4 gene DOID:630 genetic disease ISO RGD:1314977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11992622 PITPNM1 phosphatidylinositol transfer protein membrane associated 1 gene DOID:1059 intellectual disability ISO RGD:1315482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11992622 PITPNM1 phosphatidylinositol transfer protein membrane associated 1 gene DOID:5419 schizophrenia ISO RGD:1315482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 11992622 PITPNM1 phosphatidylinositol transfer protein membrane associated 1 gene DOID:630 genetic disease ISO RGD:1315482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11992622 PITPNM1 phosphatidylinositol transfer protein membrane associated 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1315482 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11992622 PITPNM1 phosphatidylinositol transfer protein membrane associated 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1315482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11992654 MAX MYC associated factor X gene DOID:0050771 pheochromocytoma ISO RGD:731306 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:25741868|PMID:26070438|PMID:26467025|PMID:27838885|PMID:28152038|PMID:28492532|PMID:34130653|PMID:7630640|PMID:9536098 11992654 MAX MYC associated factor X gene DOID:0050771 pheochromocytoma susceptibility ISO RGD:731306 D RGD:7240710 20230505 OMIM 11992654 MAX MYC associated factor X gene DOID:0050773 paraganglioma ISO RGD:731306 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:27838885|PMID:27903915|PMID:28152038|PMID:28492532|PMID:7630640|PMID:9536098 11992654 MAX MYC associated factor X gene DOID:0050773 paraganglioma ISO RGD:731306 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:27838885|PMID:27903915|PMID:28152038|PMID:28492532|PMID:28552549|PMID:30455982|PMID:34130653|PMID:34439168|PMID:7630640|PMID:9115440|PMID:9536098 11992654 MAX MYC associated factor X gene DOID:0050773 paraganglioma ISO RGD:731306 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:26467025|PMID:27838885|PMID:27903915|PMID:28152038|PMID:28492532|PMID:28552549|PMID:30455982|PMID:34130653|PMID:34439168|PMID:7630640|PMID:9115440|PMID:9536098 11992654 MAX MYC associated factor X gene DOID:0050773 paraganglioma ISO RGD:731306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:26467025|PMID:27838885|PMID:27903915|PMID:28152038|PMID:28384794|PMID:28492532|PMID:28552549|PMID:29909963|PMID:30455982|PMID:34130653|PMID:34439168|PMID:7630640|PMID:9115440|PMID:9536098 11992654 MAX MYC associated factor X gene DOID:2154 nephroblastoma ISO RGD:731306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 11992654 MAX MYC associated factor X gene DOID:5409 lung small cell carcinoma ISO RGD:731306 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:lung PMID:24362264|REF_RGD_ID:13793386 11992654 MAX MYC associated factor X gene DOID:768 retinoblastoma ISO RGD:731306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:25741868|PMID:28492532 11992654 MAX MYC associated factor X gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:731306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:21685915|PMID:22452945|PMID:25741868|PMID:26070438|PMID:26467025|PMID:28492532|PMID:34130653 11992654 MAX MYC associated factor X gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:731306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:26467025|PMID:27838885|PMID:27903915|PMID:28152038|PMID:28384794|PMID:28492532|PMID:28552549|PMID:29909963|PMID:30455982|PMID:34130653|PMID:34439168|PMID:7630640|PMID:9115440|PMID:9536098 11992654 MAX MYC associated factor X gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731306 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:26467025|PMID:27838885|PMID:28152038|PMID:28492532|PMID:28552549|PMID:29264463|PMID:30455982|PMID:30877234|PMID:33367756|PMID:34130653|PMID:34169220|PMID:34439168|PMID:7630640|PMID:9115440|PMID:9536098 11992654 MAX MYC associated factor X gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:26467025|PMID:27838885|PMID:28152038|PMID:28492532|PMID:28552549|PMID:29264463|PMID:29909963|PMID:30455982|PMID:30877234|PMID:33367756|PMID:34130653|PMID:34169220|PMID:34439168|PMID:7630640|PMID:9115440|PMID:9536098 11992677 HAND2 heart and neural crest derivatives expressed 2 gene DOID:0060224 atrial fibrillation ISO RGD:731603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28416822|PMID:29892015|PMID:30061737 11992677 HAND2 heart and neural crest derivatives expressed 2 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:731603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:26676105 11992677 HAND2 heart and neural crest derivatives expressed 2 gene DOID:1682 congenital heart disease ISO RGD:731603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9671575 11992677 HAND2 heart and neural crest derivatives expressed 2 gene DOID:6000 congestive heart failure ISO RGD:731603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11992677 HAND2 heart and neural crest derivatives expressed 2 gene DOID:630 genetic disease ISO RGD:731603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11992677 HAND2 heart and neural crest derivatives expressed 2 gene DOID:6419 tetralogy of Fallot ISO RGD:731603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25093829 11992677 HAND2 heart and neural crest derivatives expressed 2 gene DOID:769 neuroblastoma ISO RGD:731603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30127528 11992677 HAND2 heart and neural crest derivatives expressed 2 gene DOID:9003936 Cardiomegaly ISO RGD:621207 D RGD:9068941 20200609 RGD mRNA:altered expression:cardiac ventricle PMID:12359233|REF_RGD_ID:727442 11992677 HAND2 heart and neural crest derivatives expressed 2 gene DOID:9003936 Cardiomegaly ISO RGD:731603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11992677 HAND2 heart and neural crest derivatives expressed 2 gene DOID:9003936 Cardiomegaly ISO RGD:731604 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart right ventricle PMID:12359233|REF_RGD_ID:727442 11992677 HAND2 heart and neural crest derivatives expressed 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11992677 HAND2 heart and neural crest derivatives expressed 2 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:621207 D RGD:9068941 20200609 RGD protein:increased expression:heart right ventricle PMID:12955401|REF_RGD_ID:5132894 11992677 HAND2 heart and neural crest derivatives expressed 2 gene DOID:9006205 Animal Disease Models ISO RGD:731603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11992677 HAND2 heart and neural crest derivatives expressed 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:731603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11992682 NKTR natural killer cell triggering receptor gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1353165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 11992682 NKTR natural killer cell triggering receptor gene DOID:630 genetic disease ISO RGD:1353165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11992732 TMEM80 transmembrane protein 80 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11992732 TMEM80 transmembrane protein 80 gene DOID:0050729 neutral lipid storage disease ISO RGD:1603868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 11992732 TMEM80 transmembrane protein 80 gene DOID:0080773 delta beta-thalassemia ISO RGD:1603868 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11992732 TMEM80 transmembrane protein 80 gene DOID:0111969 immunodeficiency 39 ISO RGD:1603868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 11992732 TMEM80 transmembrane protein 80 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11992732 TMEM80 transmembrane protein 80 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11992732 TMEM80 transmembrane protein 80 gene DOID:630 genetic disease ISO RGD:1603868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11992732 TMEM80 transmembrane protein 80 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1603868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 11992749 SLC18A2 solute carrier family 18 member A2 gene DOID:0080855 Parkinsonism ISO RGD:734009 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16269145 11992749 SLC18A2 solute carrier family 18 member A2 gene DOID:13548 secondary Parkinson disease ISO RGD:734009 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:34774656 11992749 SLC18A2 solute carrier family 18 member A2 gene DOID:14330 Parkinson's disease ISO RGD:11300 D RGD:9068941 20200609 RGD PMID:11463816|REF_RGD_ID:5131163 11992749 SLC18A2 solute carrier family 18 member A2 gene DOID:14330 Parkinson's disease ISO RGD:3694 D RGD:9068941 20200609 RGD PMID:16269145|REF_RGD_ID:5129143 11992749 SLC18A2 solute carrier family 18 member A2 gene DOID:14330 Parkinson's disease ISO RGD:3694 D RGD:9068941 20200609 RGD mRNA:decreased expression:substantia nigra (rat) PMID:21291984|REF_RGD_ID:5131086 11992749 SLC18A2 solute carrier family 18 member A2 gene DOID:14330 Parkinson's disease ISO RGD:734009 D RGD:9068941 20200609 RGD protein:decreased expression:putamen, caudate nucleus, striatum (human) PMID:16421508|REF_RGD_ID:5131167 11992749 SLC18A2 solute carrier family 18 member A2 gene DOID:14330 Parkinson's disease ISO RGD:734009 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:16112329|PMID:34774656 11992749 SLC18A2 solute carrier family 18 member A2 gene DOID:14330 Parkinson's disease resistance ISO RGD:734009 D RGD:9068941 20200609 RGD DNA:snps:5' utr:g.-103C>A, g.-74C>T, g.-62G>A (human) PMID:16339215|REF_RGD_ID:5131165 11992749 SLC18A2 solute carrier family 18 member A2 gene DOID:1440 Machado-Joseph disease ISO RGD:3694 D RGD:9068941 20200609 RGD protein:decreased expression:substantia nigra (rat) PMID:18385100|REF_RGD_ID:5131159 11992749 SLC18A2 solute carrier family 18 member A2 gene DOID:1596 depressive disorder ISO RGD:11300 D RGD:9068941 20200609 RGD PMID:17898223|REF_RGD_ID:5131168 11992749 SLC18A2 solute carrier family 18 member A2 gene DOID:303 substance-related disorder ISO RGD:3694 D RGD:9068941 20200609 RGD protein:increased cysteine nitrosylation:striatum, vesicle (rat) PMID:17683483|REF_RGD_ID:5131179 11992749 SLC18A2 solute carrier family 18 member A2 gene DOID:3602 toxic encephalopathy ISO RGD:3694 D RGD:9068941 20200609 RGD protein:increased expression:thalamus (rat) PMID:19798748|REF_RGD_ID:5130970 11992749 SLC18A2 solute carrier family 18 member A2 gene DOID:630 genetic disease ISO RGD:734009 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 11992749 SLC18A2 solute carrier family 18 member A2 gene DOID:863 nervous system disease ISO RGD:734009 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12890883 11992749 SLC18A2 solute carrier family 18 member A2 gene DOID:9002955 Nerve Degeneration ISO RGD:734009 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18643795 11992749 SLC18A2 solute carrier family 18 member A2 gene DOID:9009198 Parkinsonism-Dystonia, Infantile, 2 ISO RGD:734009 D RGD:7240710 20190315 OMIM 11992749 SLC18A2 solute carrier family 18 member A2 gene DOID:9009198 Parkinsonism-Dystonia, Infantile, 2 ISO RGD:734009 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormal dense granules | ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile, 2 PMID:23363473|PMID:25741868|PMID:26497564|PMID:28492532|PMID:28716265|PMID:32581362|PMID:35002152|PMID:36318270 11992749 SLC18A2 solute carrier family 18 member A2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:3694 D RGD:9068941 20200609 RGD PMID:16710474|REF_RGD_ID:2317333 11992749 SLC18A2 solute carrier family 18 member A2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:734009 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas (human) PMID:19223416|REF_RGD_ID:5131199 11992770 FYTTD1 forty-two-three domain containing 1 gene DOID:630 genetic disease ISO RGD:1345293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11992783 CRLF1 cytokine receptor like factor 1 gene DOID:0060294 cold-induced sweating syndrome ISO RGD:1322794 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cold-induced sweating syndrome 11992783 CRLF1 cytokine receptor like factor 1 gene DOID:0080329 cold-induced sweating syndrome 1 ISO RGD:1322794 D RGD:7240710 20180307 OMIM 11992783 CRLF1 cytokine receptor like factor 1 gene DOID:0080329 cold-induced sweating syndrome 1 ISO RGD:1322794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 PMID:12509788|PMID:17436251|PMID:17436252|PMID:19012339|PMID:20186812|PMID:20400119|PMID:21326283|PMID:21370513|PMID:24008591|PMID:24488861|PMID:25326637|PMID:25741868|PMID:26752647|PMID:27976805|PMID:28492532|PMID:31497877|PMID:35699517|PMID:8723066 11992783 CRLF1 cytokine receptor like factor 1 gene DOID:630 genetic disease ISO RGD:1322794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11992783 CRLF1 cytokine receptor like factor 1 gene DOID:9007653 Multiple Abnormalities susceptibility ISO RGD:1322794 D RGD:9068941 20200609 RGD Cold-induced sweating syndrome-1, OMIM:272430 PMID:12509788|REF_RGD_ID:1600970 11992783 CRLF1 cytokine receptor like factor 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1322794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11992797 CCDC30 coiled-coil domain containing 30 gene DOID:0081159 dilated cardiomyopathy 2C ISO RGD:1605139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2c PMID:25741868|PMID:28492532|PMID:29754768 11992797 CCDC30 coiled-coil domain containing 30 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11992797 CCDC30 coiled-coil domain containing 30 gene DOID:630 genetic disease ISO RGD:1605139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11992819 LOC100968773 olfactory receptor 4K17 gene DOID:630 genetic disease ISO RGD:1317906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11992823 PSMB8 proteasome 20S subunit beta 8 gene DOID:0050553 JMP syndrome ISO RGD:731895 D RGD:7240710 20180130 OMIM 11992823 PSMB8 proteasome 20S subunit beta 8 gene DOID:0050553 JMP syndrome ISO RGD:731895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:16199547|PMID:20159315|PMID:20534754|PMID:21129723|PMID:21881205|PMID:21953331|PMID:23768303|PMID:24033266|PMID:25741868|PMID:26524591|PMID:28492532|PMID:28895430|PMID:8495043 11992823 PSMB8 proteasome 20S subunit beta 8 gene DOID:0060009 MHC class I deficiency ISO RGD:731895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class I deficiency PMID:28492532 11992823 PSMB8 proteasome 20S subunit beta 8 gene DOID:0080600 COVID-19 ISO RGD:731895 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11992823 PSMB8 proteasome 20S subunit beta 8 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:731895 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:24033266|PMID:25741868|PMID:26524591|PMID:28492532 11992823 PSMB8 proteasome 20S subunit beta 8 gene DOID:630 genetic disease ISO RGD:731895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11992823 PSMB8 proteasome 20S subunit beta 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11992836 NEDD4 NEDD4 E3 ubiquitin protein ligase gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:736612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 11992836 NEDD4 NEDD4 E3 ubiquitin protein ligase gene DOID:2717 Bloom syndrome ISO RGD:736612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11992836 NEDD4 NEDD4 E3 ubiquitin protein ligase gene DOID:630 genetic disease ISO RGD:736612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11992836 NEDD4 NEDD4 E3 ubiquitin protein ligase gene DOID:767 muscular atrophy ISO RGD:3157 D RGD:9068941 20200609 RGD protein:increased expression:gastrocnemius PMID:19125695|REF_RGD_ID:7242174 11992836 NEDD4 NEDD4 E3 ubiquitin protein ligase gene DOID:9000058 Keloid ISO RGD:736612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20711176 11992836 NEDD4 NEDD4 E3 ubiquitin protein ligase gene DOID:9007102 Myocardial Ischemia ISO RGD:736612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11992836 NEDD4 NEDD4 E3 ubiquitin protein ligase gene DOID:9256 colorectal cancer ISO RGD:736612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 11992877 SPATA22 spermatogenesis associated 22 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1606760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 PMID:28492532 11992877 SPATA22 spermatogenesis associated 22 gene DOID:0111708 focal nonepidermolytic palmoplantar keratoderma ISO RGD:1606760 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated focal non-epidermolytic palmoplantar keratoderma 11992877 SPATA22 spermatogenesis associated 22 gene DOID:0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques ISO RGD:1606760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Olmsted syndrome 1 11992877 SPATA22 spermatogenesis associated 22 gene DOID:1059 intellectual disability ISO RGD:1606760 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28101991|PMID:28492532|PMID:29453510 11992877 SPATA22 spermatogenesis associated 22 gene DOID:3613 Canavan disease ISO RGD:1606760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Canavan Disease, Familial Form | ClinVar Annotator: match by term: Mild Canavan disease | ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10407784|PMID:10564886|PMID:10701101|PMID:10704428|PMID:10724099|PMID:10909858|PMID:11238686|PMID:12205125|PMID:12638939|PMID:14567959|PMID:15243987|PMID:16138249|PMID:16199547|PMID:16217711|PMID:16437572|PMID:16802711|PMID:16854607|PMID:17027983|PMID:17194761|PMID:17391648|PMID:17576681|PMID:17999961|PMID:18070137|PMID:18978679|PMID:19685155|PMID:20129749|PMID:20301412|PMID:21228398|PMID:21520333|PMID:21907889|PMID:22019069|PMID:22219087|PMID:22611636|PMID:22750302|PMID:22850825|PMID:22878930|PMID:23233226|PMID:23253610|PMID:23971085|PMID:24033266|PMID:24036223|PMID:25003821|PMID:25107638|PMID:25668701|PMID:25741868|PMID:26586007|PMID:26992473|PMID:27457812|PMID:27531131|PMID:27927234|PMID:28101991|PMID:28492532|PMID:29453510|PMID:31839386|PMID:32403196|PMID:33547378|PMID:34011350|PMID:34316023|PMID:7599639|PMID:7668285|PMID:8023850|PMID:8037206|PMID:8088831|PMID:8252036|PMID:8659549|PMID:9452117|PMID:9536098|PMID:9887384 11992877 SPATA22 spermatogenesis associated 22 gene DOID:630 genetic disease ISO RGD:1606760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10407784|PMID:10909858|PMID:11238686|PMID:12205125|PMID:12638939|PMID:16217711|PMID:16437572|PMID:16854607|PMID:17027983|PMID:17194761|PMID:17391648|PMID:18070137|PMID:18293939|PMID:20301412|PMID:21228398|PMID:22750302|PMID:22850825|PMID:23233226|PMID:23253610|PMID:23971085|PMID:24033266|PMID:25003821|PMID:25107638|PMID:25668701|PMID:25741868|PMID:26586007|PMID:27531131|PMID:27927234|PMID:28101991|PMID:28492532|PMID:34011350|PMID:7668285|PMID:8023850|PMID:8037206|PMID:8088831|PMID:8252036|PMID:8659549|PMID:9887384 11992896 MYO7B myosin VIIB gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:1352567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:28492532 11992896 MYO7B myosin VIIB gene DOID:0111220 centronuclear myopathy 2 ISO RGD:1352567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:28492532 11992896 MYO7B myosin VIIB gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1352567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 11992896 MYO7B myosin VIIB gene DOID:630 genetic disease ISO RGD:1352567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11992948 MTTP microsomal triglyceride transfer protein gene DOID:0060041 autism spectrum disorder ISO RGD:1318126 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11992948 MTTP microsomal triglyceride transfer protein gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1318126 D RGD:9068941 20200609 RGD PMID:15094225|REF_RGD_ID:1581245 11992948 MTTP microsomal triglyceride transfer protein gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1318126 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 11992948 MTTP microsomal triglyceride transfer protein gene DOID:10763 hypertension onset ISO RGD:1318126 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-493G>T PMID:16328015|REF_RGD_ID:1625485 11992948 MTTP microsomal triglyceride transfer protein gene DOID:1168 familial hyperlipidemia ISO RGD:1308388 D RGD:9068941 20200609 RGD PMID:12191589|REF_RGD_ID:1625489 11992948 MTTP microsomal triglyceride transfer protein gene DOID:1386 abetalipoproteinemia ISO RGD:1318126 D RGD:7240710 20190315 OMIM 11992948 MTTP microsomal triglyceride transfer protein gene DOID:1386 abetalipoproteinemia ISO RGD:1318126 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Abetalipoproteinemia | ClinVar Annotator: match by term: Betalipoprotein deficiency disease | ClinVar Annotator: match by term: MTP DEFICIENCY | ClinVar Annotator: match by term: Microsomal triglyceride transfer protein deficiency disease | ClinVar Annotator: match by term: Microsomal-triglyceride transfer protein deficiency PMID:10446076|PMID:10679949|PMID:10946006|PMID:12630961|PMID:1439810|PMID:16199547|PMID:16721486|PMID:17275380|PMID:17576681|PMID:18027103|PMID:18611256|PMID:20592474|PMID:21394827|PMID:22236406|PMID:23043934|PMID:23475612|PMID:24842304|PMID:25108285|PMID:25741868|PMID:27170061|PMID:27271787|PMID:27487388|PMID:27578136|PMID:28492532|PMID:28818680|PMID:2903181|PMID:30522860|PMID:32041611|PMID:33258201|PMID:7782284|PMID:8111381|PMID:8361539|PMID:8533758|PMID:8939939|PMID:9536098|PMID:9671739 11992948 MTTP microsomal triglyceride transfer protein gene DOID:14221 abdominal obesity-metabolic syndrome 1 ISO RGD:1318126 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 1 PMID:16199547|PMID:16721486|PMID:21394827|PMID:25741868|PMID:27578136|PMID:28492532|PMID:30522860|PMID:33258201|PMID:8533758|PMID:9671739 11992948 MTTP microsomal triglyceride transfer protein gene DOID:2018 hyperinsulinism susceptibility ISO RGD:1318126 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-493G>T PMID:11849654|REF_RGD_ID:1625490 11992948 MTTP microsomal triglyceride transfer protein gene DOID:630 genetic disease ISO RGD:1318126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11992948 MTTP microsomal triglyceride transfer protein gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1318126 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-493G>T PMID:15136504|REF_RGD_ID:1625487 11992948 MTTP microsomal triglyceride transfer protein gene DOID:9002123 Familial Hypobetalipoproteinemia, Apolipoprotein B ISO RGD:1318126 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Apolipoprotein B deficiency PMID:10446076|PMID:10679949|PMID:10946006|PMID:12630961|PMID:1439810|PMID:16199547|PMID:16721486|PMID:17275380|PMID:17576681|PMID:18027103|PMID:18611256|PMID:20592474|PMID:21394827|PMID:22236406|PMID:23043934|PMID:23475612|PMID:24842304|PMID:25108285|PMID:25741868|PMID:27170061|PMID:27271787|PMID:27487388|PMID:27578136|PMID:28492532|PMID:28818680|PMID:2903181|PMID:30522860|PMID:32041611|PMID:33258201|PMID:7782284|PMID:8111381|PMID:8361539|PMID:8533758|PMID:8939939|PMID:9536098|PMID:9671739 11992948 MTTP microsomal triglyceride transfer protein gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:1318126 D RGD:9068941 20200609 RGD PMID:17215532|REF_RGD_ID:1625482 11992948 MTTP microsomal triglyceride transfer protein gene DOID:9006098 Abetalipoproteinemia Neuropathy ISO RGD:1318126 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Abetalipoproteinemia neuropathy PMID:10446076|PMID:10679949|PMID:10946006|PMID:12630961|PMID:1439810|PMID:16199547|PMID:16721486|PMID:17275380|PMID:17576681|PMID:18027103|PMID:18611256|PMID:20592474|PMID:21394827|PMID:22236406|PMID:23043934|PMID:23475612|PMID:24842304|PMID:25108285|PMID:25741868|PMID:27170061|PMID:27271787|PMID:27487388|PMID:27578136|PMID:28492532|PMID:28818680|PMID:2903181|PMID:30522860|PMID:32041611|PMID:33258201|PMID:7782284|PMID:8111381|PMID:8361539|PMID:8533758|PMID:8939939|PMID:9536098|PMID:9671739 11992948 MTTP microsomal triglyceride transfer protein gene DOID:9006646 Metabolic Syndrome ISO RGD:1318126 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Metabolic syndrome X | ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to PMID:16199547|PMID:16721486|PMID:21394827|PMID:25741868|PMID:27578136|PMID:28492532|PMID:30522860|PMID:33258201|PMID:8533758|PMID:9671739 11992948 MTTP microsomal triglyceride transfer protein gene DOID:9452 fatty liver disease ISO RGD:1318126 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17303181 11992948 MTTP microsomal triglyceride transfer protein gene DOID:9452 fatty liver disease ISO RGD:1318126 D RGD:9068941 20200609 RGD associated with Hepatitis C;mRNA:decreased expression:liver PMID:16697730|REF_RGD_ID:1625483 11992948 MTTP microsomal triglyceride transfer protein gene DOID:9970 obesity susceptibility ISO RGD:1318126 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:15635487|REF_RGD_ID:1625486 11992971 LOC100973340 cytochrome c oxidase assembly factor 6 homolog gene DOID:0080357 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 ISO RGD:1352912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11992971 LOC100973340 cytochrome c oxidase assembly factor 6 homolog gene DOID:0080360 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 ISO RGD:1352912 D RGD:7240710 20180130 OMIM 11992971 LOC100973340 cytochrome c oxidase assembly factor 6 homolog gene DOID:0080360 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 ISO RGD:1352912 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 PMID:22277967|PMID:24549041|PMID:25339201|PMID:25741868|PMID:25959673|PMID:26160915|PMID:28492532 11992971 LOC100973340 cytochrome c oxidase assembly factor 6 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1352912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11992971 LOC100973340 cytochrome c oxidase assembly factor 6 homolog gene DOID:630 genetic disease ISO RGD:1352912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11992971 LOC100973340 cytochrome c oxidase assembly factor 6 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11992981 CIBAR1 CBY1 interacting BAR domain containing 1 gene DOID:0060340 ciliopathy ISO RGD:1604747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30395363 11992981 CIBAR1 CBY1 interacting BAR domain containing 1 gene DOID:11193 syndactyly ISO RGD:1604747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30395363 11992981 CIBAR1 CBY1 interacting BAR domain containing 1 gene DOID:1148 polydactyly ISO RGD:1332560 D RGD:9068941 20220825 MouseDO OMIM:174200 | OMIM:174500 | OMIM:174700 | OMIM:603596 11992981 CIBAR1 CBY1 interacting BAR domain containing 1 gene DOID:630 genetic disease ISO RGD:1604747 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11992981 CIBAR1 CBY1 interacting BAR domain containing 1 gene DOID:9002200 Postaxial Polydactyly, Type A9 ISO RGD:1604747 D RGD:7240710 20190315 OMIM 11992981 CIBAR1 CBY1 interacting BAR domain containing 1 gene DOID:9002200 Postaxial Polydactyly, Type A9 ISO RGD:1604747 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type A9 PMID:25741868|PMID:30395363 11992981 CIBAR1 CBY1 interacting BAR domain containing 1 gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1604747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Postaxial polydactyly type A PMID:30395363 11993002 BACH2 BTB domain and CNC homolog 2 gene DOID:0111954 immunodeficiency 60 ISO RGD:1319503 D RGD:7240710 20190515 OMIM 11993002 BACH2 BTB domain and CNC homolog 2 gene DOID:0111954 immunodeficiency 60 ISO RGD:1319503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 60 PMID:25741868|PMID:28492532|PMID:28530713 11993002 BACH2 BTB domain and CNC homolog 2 gene DOID:10608 celiac disease ISO RGD:1319503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 11993002 BACH2 BTB domain and CNC homolog 2 gene DOID:12306 vitiligo ISO RGD:1319503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 11993002 BACH2 BTB domain and CNC homolog 2 gene DOID:630 genetic disease ISO RGD:1319503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11993002 BACH2 BTB domain and CNC homolog 2 gene DOID:8778 Crohn's disease ISO RGD:1319503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 11993002 BACH2 BTB domain and CNC homolog 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1319503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21441929 11993002 BACH2 BTB domain and CNC homolog 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1319503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18978792 11993022 TRA2A transformer 2 alpha homolog gene DOID:37 skin disease ISO RGD:1603645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11993022 TRA2A transformer 2 alpha homolog gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11993022 TRA2A transformer 2 alpha homolog gene DOID:630 genetic disease ISO RGD:1603645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11993022 TRA2A transformer 2 alpha homolog gene DOID:9007964 Arsenic Poisoning ISO RGD:1603645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 11993058 VRK1 VRK serine/threonine kinase 1 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1314472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:28492532 11993058 VRK1 VRK serine/threonine kinase 1 gene DOID:0060265 pontocerebellar hypoplasia type 1A ISO RGD:1314472 D RGD:7240710 20180130 OMIM 11993058 VRK1 VRK serine/threonine kinase 1 gene DOID:0060265 pontocerebellar hypoplasia type 1A ISO RGD:1314472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital pontocerebellar hypoplasia type 1 | ClinVar Annotator: match by term: Distal hereditary motor neuropathy associated with upper motor neuron signs | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1A | ClinVar Annotator: match by term: Pontocerebellar hypoplasia with anterior horn cell disease PMID:16199547|PMID:17576681|PMID:18414213|PMID:19646678|PMID:19763152|PMID:20307669|PMID:21937992|PMID:22406018|PMID:24088041|PMID:24126608|PMID:25356970|PMID:25741868|PMID:26467025|PMID:26583493|PMID:26633545|PMID:27281532|PMID:28492532|PMID:30617279|PMID:30847374|PMID:31090908|PMID:31167812|PMID:31178479|PMID:31527692|PMID:31560180|PMID:31837156|PMID:32242460|PMID:32298515|PMID:32365420|PMID:34169149|PMID:9536098 11993058 VRK1 VRK serine/threonine kinase 1 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1314472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1B PMID:25741868|PMID:28492532 11993058 VRK1 VRK serine/threonine kinase 1 gene DOID:0060839 isolated microphthalmia 2 ISO RGD:1314472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 2 PMID:25741868|PMID:28492532 11993058 VRK1 VRK serine/threonine kinase 1 gene DOID:0112322 pontocerebellar hypoplasia type 1 ISO RGD:1314472 D RGD:9068941 20220721 CTD CTD Direct Evidence: marker/mechanism 11993058 VRK1 VRK serine/threonine kinase 1 gene DOID:1059 intellectual disability ISO RGD:1314472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11993058 VRK1 VRK serine/threonine kinase 1 gene DOID:12377 spinal muscular atrophy ISO RGD:1314472 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:18414213|PMID:25741868|PMID:27281532|PMID:28492532|PMID:31527692 11993058 VRK1 VRK serine/threonine kinase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1314472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532|PMID:31090908 11993058 VRK1 VRK serine/threonine kinase 1 gene DOID:630 genetic disease ISO RGD:1314472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:18414213|PMID:19646678|PMID:24126608|PMID:25356970|PMID:25741868|PMID:27281532|PMID:28492532|PMID:31527692|PMID:31837156|PMID:34169149|PMID:9536098 11993058 VRK1 VRK serine/threonine kinase 1 gene DOID:9000276 Juvenile Amyotrophic Lateral Sclerosis ISO RGD:1314472 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis PMID:25741868|PMID:26583493|PMID:26633545|PMID:28492532|PMID:31167812|PMID:31527692 11993058 VRK1 VRK serine/threonine kinase 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:1314472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies PMID:19646678|PMID:24126608|PMID:25356970|PMID:25741868|PMID:27281532|PMID:28492532 11993087 GSR glutathione-disulfide reductase gene DOID:0050859 hemorrhagic cystitis ISO RGD:621747 D RGD:9068941 20200609 RGD protein:increased activity:urinary bladder: PMID:19107871|REF_RGD_ID:7257548 11993087 GSR glutathione-disulfide reductase gene DOID:0080108 myoglobinuria ISO RGD:621747 D RGD:9068941 20200609 RGD protein:decreased activity:kidney: PMID:15452363|REF_RGD_ID:7257577 11993087 GSR glutathione-disulfide reductase gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:24622831|REF_RGD_ID:10401873 11993087 GSR glutathione-disulfide reductase gene DOID:0080855 Parkinsonism ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22721943 11993087 GSR glutathione-disulfide reductase gene DOID:0080855 Parkinsonism treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:20951685|REF_RGD_ID:5128840 11993087 GSR glutathione-disulfide reductase gene DOID:0111363 Heinz body anemia treatment ISO RGD:732221 D RGD:9068941 20200609 RGD PMID:20692194|REF_RGD_ID:11059501 11993087 GSR glutathione-disulfide reductase gene DOID:1037 lymphoid leukemia ISO RGD:732221 D RGD:9068941 20200609 RGD protein:increased activity:erythrocyte: PMID:8569275|REF_RGD_ID:11059504 11993087 GSR glutathione-disulfide reductase gene DOID:10652 Alzheimer's disease ISO RGD:732221 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:10096042|REF_RGD_ID:10401847 11993087 GSR glutathione-disulfide reductase gene DOID:10652 Alzheimer's disease ISO RGD:732221 D RGD:9068941 20200609 RGD protein:decreased expression:blood PMID:17721818|REF_RGD_ID:10401827 11993087 GSR glutathione-disulfide reductase gene DOID:10652 Alzheimer's disease treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:19374888|REF_RGD_ID:10401849 11993087 GSR glutathione-disulfide reductase gene DOID:10652 Alzheimer's disease treatment ISO RGD:732222 D RGD:9068941 20200609 RGD PMID:21376020|REF_RGD_ID:10401857 11993087 GSR glutathione-disulfide reductase gene DOID:10763 hypertension ISO RGD:732221 D RGD:9068941 20200609 RGD protein,mRNA:decreased_expression:mononuclear_cells:after treatment, activity increased but mRNA expression decreased further PMID:17198913|REF_RGD_ID:1600704 11993087 GSR glutathione-disulfide reductase gene DOID:10923 sickle cell anemia ISO RGD:732222 D RGD:9068941 20200609 RGD protein:increased activity:erythrocyte: PMID:14717789|REF_RGD_ID:11059503 11993087 GSR glutathione-disulfide reductase gene DOID:11476 osteoporosis ISO RGD:732221 D RGD:9068941 20200609 RGD protein:decreased expression:blood PMID:19464221|REF_RGD_ID:10401828 11993087 GSR glutathione-disulfide reductase gene DOID:11713 diabetic angiopathy ISO RGD:732221 D RGD:9068941 20200609 RGD cardiovascular complications in type 2 diabetics; protein:reduced_activity:blood PMID:16338763|REF_RGD_ID:1600708 11993087 GSR glutathione-disulfide reductase gene DOID:11758 iron deficiency anemia ISO RGD:732221 D RGD:9068941 20200609 RGD protein:increased activity:plasma: PMID:25097522|REF_RGD_ID:11059505 11993087 GSR glutathione-disulfide reductase gene DOID:12241 beta thalassemia ISO RGD:732221 D RGD:9068941 20200609 RGD protein:decreased activity:erythrocyte: PMID:20126808|REF_RGD_ID:11052141 11993087 GSR glutathione-disulfide reductase gene DOID:12556 acute kidney tubular necrosis ISO RGD:621747 D RGD:9068941 20200609 RGD protein:decreased activity:renal cortex: PMID:12885594|REF_RGD_ID:7257573 11993087 GSR glutathione-disulfide reductase gene DOID:12556 acute kidney tubular necrosis ISO RGD:732222 D RGD:9068941 20200609 RGD PMID:17078987|REF_RGD_ID:7257555 11993087 GSR glutathione-disulfide reductase gene DOID:12858 Huntington's disease treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:11490092|REF_RGD_ID:10401927 11993087 GSR glutathione-disulfide reductase gene DOID:1289 neurodegenerative disease ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 11993087 GSR glutathione-disulfide reductase gene DOID:1307 dementia ISO RGD:732221 D RGD:9068941 20200609 RGD associated with Uremia PMID:19242659|REF_RGD_ID:10401864 11993087 GSR glutathione-disulfide reductase gene DOID:13328 diabetic cataract ISO RGD:732221 D RGD:9068941 20200609 RGD PMID:12518238|REF_RGD_ID:10401829 11993087 GSR glutathione-disulfide reductase gene DOID:224 transient cerebral ischemia treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:15525350|REF_RGD_ID:10401855 11993087 GSR glutathione-disulfide reductase gene DOID:2355 anemia ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:5984971 11993087 GSR glutathione-disulfide reductase gene DOID:251 alcohol-induced mental disorder treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:24972622|REF_RGD_ID:10401897 11993087 GSR glutathione-disulfide reductase gene DOID:2773 contact dermatitis ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11993087 GSR glutathione-disulfide reductase gene DOID:3021 acute kidney failure ISO RGD:621747 D RGD:9068941 20200609 RGD glycerol-induced PMID:1870354|REF_RGD_ID:7257559 11993087 GSR glutathione-disulfide reductase gene DOID:3021 acute kidney failure ISO RGD:732222 D RGD:9068941 20200609 RGD protein:decreased activity:kidney: PMID:22286819|REF_RGD_ID:7257585 11993087 GSR glutathione-disulfide reductase gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16681429 11993087 GSR glutathione-disulfide reductase gene DOID:3393 coronary artery disease ISO RGD:732221 D RGD:9068941 20200609 RGD cardiovascular complications in type 2 diabetics; protein:reduced_activity:blood PMID:16338763|REF_RGD_ID:1600708 11993087 GSR glutathione-disulfide reductase gene DOID:4448 macular degeneration ISO RGD:732221 D RGD:9068941 20200609 RGD protein:decreased expression:blood PMID:7803358|REF_RGD_ID:10401825 11993087 GSR glutathione-disulfide reductase gene DOID:4450 renal cell carcinoma ISO RGD:732221 D RGD:9068941 20200609 RGD protein:decreased expression:kidney: PMID:18312938|REF_RGD_ID:7257550 11993087 GSR glutathione-disulfide reductase gene DOID:583 hemolytic anemia ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:13931269 11993087 GSR glutathione-disulfide reductase gene DOID:5844 myocardial infarction treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:25119867|REF_RGD_ID:10401898 11993087 GSR glutathione-disulfide reductase gene DOID:585 nephrolithiasis ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:16670437|REF_RGD_ID:7257558 11993087 GSR glutathione-disulfide reductase gene DOID:589 congenital hemolytic anemia ISO RGD:732221 D RGD:9068941 20200609 RGD protein:reduced_expression:erythrocytes,leukocytes:hemolysis triggered by consumption of fava beans PMID:947404|REF_RGD_ID:1600697 11993087 GSR glutathione-disulfide reductase gene DOID:630 genetic disease ISO RGD:732221 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11993087 GSR glutathione-disulfide reductase gene DOID:750 peptic ulcer disease treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:24480520|REF_RGD_ID:10401900 11993087 GSR glutathione-disulfide reductase gene DOID:783 end stage renal disease ISO RGD:732221 D RGD:9068941 20200609 RGD protein:increased activity:blood: PMID:20181004|REF_RGD_ID:7257547 11993087 GSR glutathione-disulfide reductase gene DOID:783 end stage renal disease ISO RGD:732221 D RGD:9068941 20200609 RGD protein:increased activity:lymphocyte: PMID:6463365|REF_RGD_ID:7257560 11993087 GSR glutathione-disulfide reductase gene DOID:7998 hyperthyroidism ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19914224 11993087 GSR glutathione-disulfide reductase gene DOID:7998 hyperthyroidism treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:25242845|REF_RGD_ID:10401891 11993087 GSR glutathione-disulfide reductase gene DOID:83 cataract ISO RGD:732221 D RGD:9068941 20200609 RGD protein:reduced_expression PMID:947404|REF_RGD_ID:1600697 11993087 GSR glutathione-disulfide reductase gene DOID:83 cataract treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:24530554|REF_RGD_ID:10401885 11993087 GSR glutathione-disulfide reductase gene DOID:8997 polycythemia vera ISO RGD:732221 D RGD:9068941 20200609 RGD protein:increased activity:erythrocyte: PMID:8569275|REF_RGD_ID:11059504 11993087 GSR glutathione-disulfide reductase gene DOID:9000197 Edema ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19874808 11993087 GSR glutathione-disulfide reductase gene DOID:9000310 Lung Injury treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:24479952|REF_RGD_ID:10401875 11993087 GSR glutathione-disulfide reductase gene DOID:9000808 Hypercholesterolemia treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:24120393|PMID:24770475|REF_RGD_ID:10401874|REF_RGD_ID:10401896 11993087 GSR glutathione-disulfide reductase gene DOID:9001191 Cadmium Poisoning treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:24200859|REF_RGD_ID:10401881 11993087 GSR glutathione-disulfide reductase gene DOID:9002165 Diabetic Nephropathies ISO RGD:732221 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:decreased activity:kidney PMID:23626958|REF_RGD_ID:7257582 11993087 GSR glutathione-disulfide reductase gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:621747 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24947049|REF_RGD_ID:10401899 11993087 GSR glutathione-disulfide reductase gene DOID:9002331 Knee Osteoarthritis ISO RGD:732221 D RGD:9068941 20200609 RGD protein:increased expression:synovial fluid PMID:16289733|REF_RGD_ID:10401830 11993087 GSR glutathione-disulfide reductase gene DOID:9002644 Premature Aging ISO RGD:732222 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex PMID:16542809|REF_RGD_ID:10401826 11993087 GSR glutathione-disulfide reductase gene DOID:9002644 Premature Aging treatment ISO RGD:732222 D RGD:9068941 20200609 RGD PMID:21903878|REF_RGD_ID:10401863 11993087 GSR glutathione-disulfide reductase gene DOID:9002775 Cognitive Dysfunction ISO RGD:732221 D RGD:9068941 20200609 RGD PMID:18320305|REF_RGD_ID:10401853 11993087 GSR glutathione-disulfide reductase gene DOID:9004009 Reperfusion Injury treatment ISO RGD:621747 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24904723|REF_RGD_ID:10401882 11993087 GSR glutathione-disulfide reductase gene DOID:9004610 Acute Lung Injury ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:7896613|REF_RGD_ID:7257562 11993087 GSR glutathione-disulfide reductase gene DOID:9004989 Protein Deficiency ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15865262 11993087 GSR glutathione-disulfide reductase gene DOID:9005292 Organophosphate Poisoning treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:24188896|REF_RGD_ID:10401876 11993087 GSR glutathione-disulfide reductase gene DOID:9005452 Ureteral Calculi ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24360074 11993087 GSR glutathione-disulfide reductase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621747 D RGD:9068941 20200609 RGD protein:decreased activity:plasma: PMID:20187988|REF_RGD_ID:7257587 11993087 GSR glutathione-disulfide reductase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20620209 11993087 GSR glutathione-disulfide reductase gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:25050809|REF_RGD_ID:10401889 11993087 GSR glutathione-disulfide reductase gene DOID:9005930 Endotoxemia treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:25469663|REF_RGD_ID:10401928 11993087 GSR glutathione-disulfide reductase gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:24630969|REF_RGD_ID:10401866 11993087 GSR glutathione-disulfide reductase gene DOID:9006411 Testicular Injury treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:25446862|REF_RGD_ID:10401887 11993087 GSR glutathione-disulfide reductase gene DOID:9007213 Hemolytic Anemia due to Glutathione Reductase Deficiency ISO RGD:732221 D RGD:7240710 20191211 OMIM 11993087 GSR glutathione-disulfide reductase gene DOID:9007213 Hemolytic Anemia due to Glutathione Reductase Deficiency ISO RGD:732221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemolytic anemia due to glutathione reductase deficiency PMID:25741868|PMID:28492532 11993087 GSR glutathione-disulfide reductase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:621747 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:23554813|REF_RGD_ID:7257532 11993087 GSR glutathione-disulfide reductase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513|PMID:28069987 11993087 GSR glutathione-disulfide reductase gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:24154663|REF_RGD_ID:10401878 11993087 GSR glutathione-disulfide reductase gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:24769323|REF_RGD_ID:10401892 11993087 GSR glutathione-disulfide reductase gene DOID:9007964 Arsenic Poisoning ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:25209654|REF_RGD_ID:10401880 11993087 GSR glutathione-disulfide reductase gene DOID:9007980 Sleep Deprivation ISO RGD:621747 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, cortex, amygdala: PMID:21621560|REF_RGD_ID:11059509 11993087 GSR glutathione-disulfide reductase gene DOID:9008691 Liver Injury ISO RGD:621747 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:22120977|REF_RGD_ID:10401865 11993087 GSR glutathione-disulfide reductase gene DOID:9119 acute myeloid leukemia ISO RGD:732221 D RGD:9068941 20200609 RGD PMID:24191316|REF_RGD_ID:11059506 11993087 GSR glutathione-disulfide reductase gene DOID:9351 diabetes mellitus ISO RGD:732221 D RGD:9068941 20200609 RGD protein:decreased activity:blood: PMID:22540111|REF_RGD_ID:7257584 11993087 GSR glutathione-disulfide reductase gene DOID:9669 senile cataract ISO RGD:732221 D RGD:9068941 20200609 RGD PMID:12518238|REF_RGD_ID:10401829 11993087 GSR glutathione-disulfide reductase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:732221 D RGD:9068941 20200609 RGD PMID:24191316|REF_RGD_ID:11059506 11993087 GSR glutathione-disulfide reductase gene DOID:9993 hypoglycemia ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20620209 11993104 ZNF804A zinc finger protein 804A gene DOID:303 substance-related disorder ISO RGD:1349576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11993104 ZNF804A zinc finger protein 804A gene DOID:4450 renal cell carcinoma ISO RGD:1349576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 11993104 ZNF804A zinc finger protein 804A gene DOID:5419 schizophrenia ISO RGD:1349576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11993104 ZNF804A zinc finger protein 804A gene DOID:630 genetic disease ISO RGD:1349576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11993113 SLCO5A1 solute carrier organic anion transporter family member 5A1 gene DOID:630 genetic disease ISO RGD:1316144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11993126 SCAPER S-phase cyclin A associated protein in the ER gene DOID:0050572 cone-rod dystrophy ISO RGD:1345518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:28794130 11993126 SCAPER S-phase cyclin A associated protein in the ER gene DOID:10584 retinitis pigmentosa ISO RGD:1345518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic retinitis pigmentosa PMID:28794130|PMID:32214227 11993126 SCAPER S-phase cyclin A associated protein in the ER gene DOID:1059 intellectual disability ISO RGD:1345518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, moderate PMID:28794130 11993126 SCAPER S-phase cyclin A associated protein in the ER gene DOID:2717 Bloom syndrome ISO RGD:1345518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11993126 SCAPER S-phase cyclin A associated protein in the ER gene DOID:5419 schizophrenia ISO RGD:1345518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11993126 SCAPER S-phase cyclin A associated protein in the ER gene DOID:630 genetic disease ISO RGD:1345518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11993126 SCAPER S-phase cyclin A associated protein in the ER gene DOID:9001917 INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA ISO RGD:1345518 D RGD:7240710 20200115 OMIM 11993126 SCAPER S-phase cyclin A associated protein in the ER gene DOID:9001917 INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA ISO RGD:1345518 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA PMID:25741868|PMID:28492532|PMID:28794130|PMID:32214227 11993126 SCAPER S-phase cyclin A associated protein in the ER gene DOID:9256 colorectal cancer ISO RGD:1345518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11993126 SCAPER S-phase cyclin A associated protein in the ER gene DOID:9970 obesity ISO RGD:1345518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868|PMID:30723319 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10194514|PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:10685980|PMID:10720932|PMID:11226335|PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:11999683|PMID:12169627|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:12941782|PMID:14764815|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17114887|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17389331|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:18025408|PMID:18346985|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19342262|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:20573158|PMID:20685672|PMID:20943779|PMID:20943781|PMID:21109997|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21674179|PMID:21716120|PMID:21968111|PMID:21978130|PMID:2198959|PMID:21989597|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22855730|PMID:22876564|PMID:23067144|PMID:23093687|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23506826|PMID:24033266|PMID:24044690|PMID:24072082|PMID:24332968|PMID:24401662|PMID:24622368|PMID:24686051|PMID:25008049|PMID:25201519|PMID:25323548|PMID:25741868|PMID:25765446|PMID:26180531|PMID:26208381|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27271189|PMID:27313609|PMID:27538677|PMID:27573238|PMID:27682711|PMID:27889714|PMID:27908292|PMID:28270372|PMID:28442472|PMID:28492532|PMID:28701683|PMID:29216354|PMID:29439679|PMID:29644095|PMID:29893194|PMID:30186238|PMID:30352420|PMID:30386300|PMID:30395892|PMID:31208162|PMID:31997554|PMID:32027066|PMID:32202736|PMID:32333556|PMID:32792356|PMID:32893419|PMID:32928245|PMID:32935446|PMID:33046911|PMID:33185579|PMID:33606663|PMID:34764980|PMID:8751851|PMID:8923011|PMID:9519757|PMID:9536098|PMID:9618169|PMID:9648840|PMID:9769320|PMID:9867219 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0060319 cardiac arrest treatment ISO RGD:3786 D RGD:9068941 20200609 RGD PMID:26010685|REF_RGD_ID:12791997 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:733938 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:10202168|PMID:10204114|PMID:1021286|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:11226335|PMID:11395395|PMID:11872696|PMID:11999683|PMID:12169627|PMID:12196481|PMID:12475776|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16199547|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17257281|PMID:17378627|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17668386|PMID:17823772|PMID:18025408|PMID:18346985|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20424228|PMID:20573158|PMID:20685672|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21674179|PMID:21716120|PMID:21989597|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22876564|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24033266|PMID:24332968|PMID:24401662|PMID:24686051|PMID:25741868|PMID:25765446|PMID:26379717|PMID:26448950|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27313609|PMID:27538677|PMID:27908292|PMID:28270372|PMID:28492532|PMID:28587604|PMID:28701683|PMID:29216354|PMID:29644095|PMID:29893194|PMID:30186238|PMID:30386300|PMID:30515958|PMID:32027066|PMID:32202736|PMID:32333556|PMID:32792356|PMID:32935446|PMID:33046911|PMID:33185579|PMID:34194474|PMID:34631896|PMID:8923011|PMID:9519757|PMID:9568693|PMID:9618169|PMID:9648840|PMID:9769320|PMID:9867219 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:733938 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:10194514|PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:10685980|PMID:10720932|PMID:11226335|PMID:11395395|PMID:11872696|PMID:11999683|PMID:12169627|PMID:12196481|PMID:12475776|PMID:14764815|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17114887|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17668386|PMID:17823772|PMID:18025408|PMID:18346985|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20424228|PMID:20573158|PMID:20685672|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21674179|PMID:21716120|PMID:21978130|PMID:2198959|PMID:21989597|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22855730|PMID:22876564|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24033266|PMID:24044690|PMID:24332968|PMID:24401662|PMID:24686051|PMID:25008049|PMID:25201519|PMID:25323548|PMID:25741868|PMID:25765446|PMID:26180531|PMID:26379717|PMID:26448950|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27313609|PMID:27538677|PMID:27573238|PMID:27682711|PMID:27889714|PMID:27908292|PMID:28270372|PMID:28492532|PMID:28587604|PMID:28701683|PMID:29216354|PMID:29644095|PMID:29893194|PMID:30186238|PMID:30386300|PMID:30395892|PMID:30515958|PMID:31208162|PMID:31997554|PMID:32027066|PMID:32202736|PMID:32333556|PMID:32792356|PMID:32935446|PMID:33046911|PMID:33185579|PMID:34194474|PMID:34631896|PMID:8751851|PMID:8923011|PMID:9519757|PMID:9568693|PMID:9618169|PMID:9648840|PMID:9769320|PMID:9867219 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:733938 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:10194514|PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:10685980|PMID:10720932|PMID:11226335|PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:11999683|PMID:12169627|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:14764815|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17114887|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17575084|PMID:17668386|PMID:17823772|PMID:18025408|PMID:18346985|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20573158|PMID:20685672|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21674179|PMID:21716120|PMID:21978130|PMID:2198959|PMID:21989597|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22855730|PMID:22876564|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23506826|PMID:24033266|PMID:24044690|PMID:24072082|PMID:24332968|PMID:24401662|PMID:24686051|PMID:25008049|PMID:25201519|PMID:25323548|PMID:25741868|PMID:25765446|PMID:26180531|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27313609|PMID:27538677|PMID:27573238|PMID:27682711|PMID:27889714|PMID:27908292|PMID:28270372|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28701683|PMID:29216354|PMID:29644095|PMID:29893194|PMID:30186238|PMID:30386300|PMID:30395892|PMID:30515958|PMID:31208162|PMID:31997554|PMID:32027066|PMID:32202736|PMID:32333556|PMID:32792356|PMID:32935446|PMID:33046911|PMID:33185579|PMID:34194474|PMID:34631896|PMID:8751851|PMID:8923011|PMID:9519757|PMID:9568693|PMID:9618169|PMID:9648840|PMID:9769320|PMID:9867219 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:733938 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:10194514|PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:10685980|PMID:10720932|PMID:11226335|PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:11999683|PMID:12169627|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:14764815|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17114887|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17575084|PMID:17668386|PMID:17823772|PMID:18025408|PMID:18346985|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20573158|PMID:20685672|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21674179|PMID:21716120|PMID:21978130|PMID:2198959|PMID:21989597|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22855730|PMID:22876564|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23506826|PMID:24033266|PMID:24044690|PMID:24072082|PMID:24332968|PMID:24401662|PMID:24686051|PMID:25008049|PMID:25201519|PMID:25323548|PMID:25741868|PMID:25765446|PMID:26180531|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27313609|PMID:27538677|PMID:27573238|PMID:27682711|PMID:27889714|PMID:27908292|PMID:28270372|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28701683|PMID:29216354|PMID:29644095|PMID:29893194|PMID:30186238|PMID:30386300|PMID:30395892|PMID:30515958|PMID:31208162|PMID:31997554|PMID:32027066|PMID:32202736|PMID:32333556|PMID:32792356|PMID:32935446|PMID:33046911|PMID:33185579|PMID:34194474|PMID:34631896|PMID:34764980|PMID:8751851|PMID:8923011|PMID:9519757|PMID:9568693|PMID:9618169|PMID:9648840|PMID:9769320|PMID:9867219 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:10194514|PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:10685980|PMID:10720932|PMID:11226335|PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:11999683|PMID:12169627|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:12941782|PMID:14764815|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17114887|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:18025408|PMID:18346985|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20573158|PMID:20685672|PMID:20943779|PMID:20943781|PMID:21109997|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21674179|PMID:21716120|PMID:21968111|PMID:21978130|PMID:2198959|PMID:21989597|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22855730|PMID:22876564|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23506826|PMID:24033266|PMID:24044690|PMID:24072082|PMID:24332968|PMID:24401662|PMID:24686051|PMID:25008049|PMID:25201519|PMID:25323548|PMID:25741868|PMID:25765446|PMID:26180531|PMID:26208381|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27313609|PMID:27538677|PMID:27573238|PMID:27682711|PMID:27889714|PMID:27908292|PMID:28270372|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28701683|PMID:29216354|PMID:29644095|PMID:29893194|PMID:30186238|PMID:30352420|PMID:30386300|PMID:30395892|PMID:30515958|PMID:31208162|PMID:31997554|PMID:32027066|PMID:32202736|PMID:32333556|PMID:32792356|PMID:32893419|PMID:32928245|PMID:32935446|PMID:33046911|PMID:33185579|PMID:34194474|PMID:34631896|PMID:34764980|PMID:8751851|PMID:8923011|PMID:9519757|PMID:9536098|PMID:9568693|PMID:9618169|PMID:9648840|PMID:9769320|PMID:9867219 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Permanent diabetes mellitus of infancy | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:10204114|PMID:10338089|PMID:10426386|PMID:10447255|PMID:10487673|PMID:10685980|PMID:10720932|PMID:10857971|PMID:10923633|PMID:11272143|PMID:11318841|PMID:11692183|PMID:11872696|PMID:11999683|PMID:12166651|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:12941782|PMID:14692646|PMID:14715863|PMID:14764815|PMID:15111507|PMID:15356046|PMID:15513899|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15842514|PMID:15855351|PMID:16357843|PMID:16367916|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16455067|PMID:16613899|PMID:16860127|PMID:16885549|PMID:17257281|PMID:17378627|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17539904|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:17919176|PMID:18025408|PMID:18025464|PMID:18339976|PMID:18346985|PMID:18414213|PMID:18436707|PMID:18493152|PMID:18596924|PMID:18599530|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20672374|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20922570|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21544516|PMID:21674179|PMID:21716120|PMID:21814221|PMID:21851374|PMID:21989597|PMID:21992908|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22902787|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24033266|PMID:24080777|PMID:24332968|PMID:24401662|PMID:24616771|PMID:24768178|PMID:24814349|PMID:24959012|PMID:25306193|PMID:25741868|PMID:25765446|PMID:25871929|PMID:25955821|PMID:25972930|PMID:26180531|PMID:26379717|PMID:26448950|PMID:26467025|PMID:26740944|PMID:26758964|PMID:27175728|PMID:27313609|PMID:27538677|PMID:27677908|PMID:27681997|PMID:27754802|PMID:27810688|PMID:27908292|PMID:27913849|PMID:28346775|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28701683|PMID:28757749|PMID:29127764|PMID:29207974|PMID:29216354|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30098243|PMID:30297969|PMID:30352420|PMID:30354297|PMID:30386300|PMID:30447144|PMID:30515958|PMID:30977832|PMID:31595705|PMID:31604004|PMID:32027066|PMID:32041611|PMID:32333556|PMID:32640185|PMID:32792356|PMID:32893419|PMID:32928245|PMID:32934261|PMID:32935446|PMID:33046911|PMID:33185579|PMID:33400071|PMID:33410562|PMID:33728157|PMID:34171966|PMID:34194474|PMID:34309670|PMID:34462253|PMID:34631896|PMID:35402560|PMID:7716548|PMID:8650576|PMID:8923011|PMID:9075812|PMID:9382893|PMID:9519757|PMID:9536098|PMID:9568693|PMID:9618169|PMID:9648840|PMID:9867219 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0070218 familial hyperinsulinemic hypoglycemia 2 ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 2 PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16455067|PMID:17257281|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18414213|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:25741868|PMID:26448950|PMID:26467025|PMID:28492532|PMID:29893194|PMID:32935446|PMID:9867219 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0070219 familial hyperinsulinemic hypoglycemia 1 ISO RGD:733938 D RGD:7240710 20180912 OMIM 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0070219 familial hyperinsulinemic hypoglycemia 1 ISO RGD:733938 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 PMID:10194514|PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:10487673|PMID:10615958|PMID:10685979|PMID:10685980|PMID:10720932|PMID:10828824|PMID:10857971|PMID:10923633|PMID:10993895|PMID:11018078|PMID:11226335|PMID:11272143|PMID:11395395|PMID:11457841|PMID:11697420|PMID:11867634|PMID:11999683|PMID:12166651|PMID:12169627|PMID:12199344|PMID:12364426|PMID:12559865|PMID:12627323|PMID:12784138|PMID:12941782|PMID:14593442|PMID:14692646|PMID:14715863|PMID:14764815|PMID:15111507|PMID:15356046|PMID:15466080|PMID:15561897|PMID:15562009|PMID:15579781|PMID:15580558|PMID:15718250|PMID:15807877|PMID:15842514|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16367916|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16613899|PMID:16860127|PMID:16882742|PMID:16885549|PMID:16969006|PMID:17236890|PMID:17378627|PMID:17384337|PMID:17446535|PMID:17466004|PMID:17539904|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:17919176|PMID:17990484|PMID:18025408|PMID:18025464|PMID:18073294|PMID:18339976|PMID:18346985|PMID:18390792|PMID:18414213|PMID:18436707|PMID:18493152|PMID:18596924|PMID:18599530|PMID:18758683|PMID:18767144|PMID:18796520|PMID:18981553|PMID:18988933|PMID:19151370|PMID:19475716|PMID:19766903|PMID:20042013|PMID:20427569|PMID:20432820|PMID:20573158|PMID:20672374|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20922570|PMID:20943779|PMID:20943781|PMID:21109997|PMID:21142918|PMID:21214702|PMID:21321069|PMID:21378087|PMID:21411514|PMID:21422196|PMID:21544516|PMID:21617188|PMID:21674179|PMID:21716120|PMID:21814221|PMID:21851374|PMID:21968111|PMID:21978130|PMID:2198959|PMID:21989597|PMID:21992908|PMID:22151254|PMID:22210575|PMID:22308858|PMID:22533711|PMID:22562119|PMID:22662265|PMID:22704848|PMID:22796691|PMID:22802590|PMID:22855730|PMID:22876564|PMID:22902787|PMID:23067144|PMID:23226049|PMID:23261959|PMID:23266803|PMID:23273570|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23506826|PMID:23652837|PMID:23744072|PMID:23771172|PMID:23771920|PMID:23798684|PMID:23903354|PMID:24033266|PMID:24044690|PMID:24072082|PMID:24080777|PMID:24145932|PMID:24332968|PMID:24401662|PMID:24411943|PMID:24434300|PMID:24616771|PMID:24645945|PMID:24686051|PMID:24750227|PMID:24768178|PMID:24814349|PMID:24937539|PMID:24959012|PMID:25008049|PMID:25117148|PMID:25201519|PMID:25306193|PMID:25323548|PMID:25518065|PMID:25525159|PMID:25555642|PMID:25584046|PMID:25639667|PMID:25720052|PMID:25741868|PMID:25765446|PMID:25781672|PMID:25871929|PMID:25931474|PMID:25955821|PMID:25972930|PMID:26180531|PMID:26208381|PMID:26246406|PMID:26268944|PMID:26316440|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26545620|PMID:26545876|PMID:26594346|PMID:26740944|PMID:26758964|PMID:26839896|PMID:27175728|PMID:27188453|PMID:27313609|PMID:27334808|PMID:27538677|PMID:27573238|PMID:27677908|PMID:27681997|PMID:27682711|PMID:27691052|PMID:27754802|PMID:27810688|PMID:27889714|PMID:27908292|PMID:27913849|PMID:28018462|PMID:28095440|PMID:28270372|PMID:28346775|PMID:28439221|PMID:28442472|PMID:28492532|PMID:28529015|PMID:28587604|PMID:28701683|PMID:28757749|PMID:29082728|PMID:29127764|PMID:29207974|PMID:29216354|PMID:29644095|PMID:29675256|PMID:29751826|PMID:30098243|PMID:30114684|PMID:30186238|PMID:30191644|PMID:30297969|PMID:30352420|PMID:30354297|PMID:30386300|PMID:30395892|PMID:30447144|PMID:30462810|PMID:30515958|PMID:30977832|PMID:31002010|PMID:31208162|PMID:31218401|PMID:31291970|PMID:31464105|PMID:31595705|PMID:31604004|PMID:31727138|PMID:31997554|PMID:32027066|PMID:32041611|PMID:32202736|PMID:32640185|PMID:32670376|PMID:32792356|PMID:32893419|PMID:32928245|PMID:32934261|PMID:33046911|PMID:33240318|PMID:33300273|PMID:33400071|PMID:33410562|PMID:33502730|PMID:33728157|PMID:34015902|PMID:34171966|PMID:34194474|PMID:34309670|PMID:34462253|PMID:34566892|PMID:34631896|PMID:34764980|PMID:34777243|PMID:35402560|PMID:7716548|PMID:8650576|PMID:8751851|PMID:8923011|PMID:9041101|PMID:9075812|PMID:9382893 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0070219 familial hyperinsulinemic hypoglycemia 1 ISO RGD:733938 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 PMID:9519757|PMID:9536098|PMID:9568693|PMID:9618169|PMID:9642650|PMID:9648840|PMID:9769320 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0080855 Parkinsonism ISO RGD:3786 D RGD:9068941 20200609 RGD PMID:15857625|REF_RGD_ID:1598645 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:733938 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10204114|PMID:10426386|PMID:10685980|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15797964|PMID:15807877|PMID:15855351|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17539904|PMID:17823772|PMID:18025408|PMID:18025464|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18981553|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21674179|PMID:21989597|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22704848|PMID:22855730|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24145932|PMID:24332968|PMID:24401662|PMID:25306193|PMID:25741868|PMID:25765446|PMID:26379717|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27538677|PMID:27908292|PMID:28492532|PMID:28587604|PMID:28701683|PMID:28757749|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30098243|PMID:30297969|PMID:30386300|PMID:30447144|PMID:30515958|PMID:30977832|PMID:31604004|PMID:31997554|PMID:32027066|PMID:32792356|PMID:32893419|PMID:32928245|PMID:33240318|PMID:33400071|PMID:33410562|PMID:34194474|PMID:34309670|PMID:35402560|PMID:8650576|PMID:8923011|PMID:9382893|PMID:9519757|PMID:9648840|PMID:9867219 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10204114|PMID:10426386|PMID:10685980|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15797964|PMID:15807877|PMID:15855351|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17539904|PMID:17823772|PMID:18025408|PMID:18025464|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18981553|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21674179|PMID:21989597|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22704848|PMID:22749773|PMID:22855730|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24145932|PMID:24332968|PMID:24401662|PMID:24622368|PMID:25306193|PMID:25741868|PMID:25765446|PMID:25972930|PMID:26180531|PMID:26379717|PMID:26431509|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27538677|PMID:27681997|PMID:27908292|PMID:27913849|PMID:28439221|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28701683|PMID:28757749|PMID:29127764|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30098243|PMID:30186238|PMID:30297969|PMID:30386300|PMID:30447144|PMID:30487145|PMID:30515958|PMID:30977832|PMID:31604004|PMID:31997554|PMID:32027066|PMID:32041611|PMID:32640185|PMID:32792356|PMID:32893419|PMID:32928245|PMID:33013711|PMID:33240318|PMID:33400071|PMID:33410562|PMID:33587123|PMID:34171966|PMID:34194474|PMID:34309670|PMID:34462253|PMID:35402560|PMID:8650576|PMID:8923011|PMID:9382893|PMID:9519757|PMID:9648840|PMID:9867219 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0111110 maturity-onset diabetes of the young type 13 ISO RGD:733938 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 13 PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16455067|PMID:17257281|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18414213|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:25741868|PMID:26448950|PMID:26467025|PMID:28492532|PMID:29893194|PMID:32935446|PMID:9867219 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0112262 leucine-sensitive hypoglycemia of infancy ISO RGD:733938 D RGD:7240710 20180130 OMIM 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0112262 leucine-sensitive hypoglycemia of infancy ISO RGD:733938 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leucine-induced hypoglycemia | ClinVar Annotator: match by term: Leucine-sensitive hypoglycemia of infancy PMID:10204114|PMID:10426386|PMID:10857971|PMID:15356046|PMID:15579781|PMID:16429405|PMID:16442101|PMID:16613899|PMID:16885549|PMID:17378627|PMID:17466004|PMID:17823772|PMID:18025408|PMID:18414213|PMID:18596924|PMID:18981553|PMID:19475716|PMID:19766903|PMID:20685672|PMID:20799350|PMID:20943781|PMID:21142918|PMID:21422196|PMID:21674179|PMID:21814221|PMID:21989597|PMID:22151254|PMID:22533711|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23563683|PMID:24332968|PMID:24401662|PMID:25741868|PMID:25765446|PMID:25871929|PMID:26180531|PMID:26379717|PMID:26431509|PMID:26467025|PMID:26740944|PMID:27538677|PMID:27677908|PMID:28492532|PMID:28587604|PMID:28701683|PMID:28757749|PMID:29644095|PMID:29751826|PMID:30098243|PMID:30386300|PMID:30515958|PMID:30977832|PMID:31110826|PMID:31604004|PMID:32027066|PMID:32792356|PMID:32928245|PMID:33400071|PMID:34194474|PMID:34777243|PMID:8650576|PMID:8923011|PMID:9382893|PMID:9648840 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:1059 intellectual disability ISO RGD:733938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:10763 hypertension ISO RGD:733938 D RGD:9068941 20200609 RGD associated with obesity;DNA:polymorphism:exon: PMID:11030411|REF_RGD_ID:737749 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:11383 cryptorchidism ISO RGD:733938 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Bilateral cryptorchidism PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:11446 sciatic neuropathy ISO RGD:3786 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:21907492|REF_RGD_ID:12791994 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:11717 neonatal diabetes ISO RGD:733938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal diabetes mellitus PMID:15513899|PMID:16613899|PMID:16885549|PMID:17389331|PMID:17446535|PMID:17668386|PMID:17919176|PMID:17957187|PMID:18025408|PMID:18025464|PMID:18436707|PMID:18767144|PMID:18981553|PMID:19095654|PMID:20301620|PMID:21109997|PMID:21989597|PMID:22451668|PMID:22749773|PMID:24622368|PMID:25741868|PMID:26208381|PMID:26467025|PMID:27538677|PMID:28492532|PMID:32027066|PMID:32792356|PMID:32893419 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:11832 visual epilepsy ISO RGD:3786 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:dentate gyrus PMID:18021373|REF_RGD_ID:2301911 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:733938 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neonatal respiratory distress PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:13317 hyperinsulinemic hypoglycemia ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia | ClinVar Annotator: match by term: Islet cell hyperplasia | ClinVar Annotator: match by term: Persistent Hyperinsulinemia Hypoglycemia of Infancy | ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy PMID:10194514|PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:10685980|PMID:10720932|PMID:11226335|PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:11999683|PMID:12169627|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:12941782|PMID:14764815|PMID:15111507|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15797964|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17575084|PMID:17576681|PMID:17823772|PMID:18025408|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20573158|PMID:20685672|PMID:20799350|PMID:20943779|PMID:20943781|PMID:21378087|PMID:21422196|PMID:21674179|PMID:21716120|PMID:21968111|PMID:21978130|PMID:2198959|PMID:21989597|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22704848|PMID:22855730|PMID:22876564|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24033266|PMID:24044690|PMID:24072082|PMID:24332968|PMID:24401662|PMID:24616771|PMID:24686051|PMID:25201519|PMID:25323548|PMID:25741868|PMID:25765446|PMID:26180531|PMID:26379717|PMID:26431509|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27313609|PMID:27538677|PMID:27573238|PMID:27682711|PMID:27889714|PMID:28492532|PMID:28701683|PMID:29644095|PMID:29893194|PMID:30098243|PMID:30186238|PMID:30352420|PMID:30354297|PMID:30386300|PMID:30395892|PMID:30977832|PMID:31208162|PMID:31997554|PMID:32027066|PMID:32202736|PMID:32792356|PMID:32928245|PMID:34631896|PMID:34764980|PMID:8650576|PMID:8751851|PMID:8923011|PMID:9382893|PMID:9519757|PMID:9536098|PMID:9568693|PMID:9618169|PMID:9648840|PMID:9769320|PMID:9867219 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:1824 status epilepticus ISO RGD:3786 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus PMID:22050960|REF_RGD_ID:5686281 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:1882 atrial heart septal defect ISO RGD:733938 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:2018 hyperinsulinism ISO RGD:733938 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive PMID:10202168|PMID:10204114|PMID:1021286|PMID:10338089|PMID:10426386|PMID:10447255|PMID:10487673|PMID:10615958|PMID:10685980|PMID:10720932|PMID:10857971|PMID:10923633|PMID:10993895|PMID:11226335|PMID:11272143|PMID:11395395|PMID:11457841|PMID:11697420|PMID:11867634|PMID:11872696|PMID:11999683|PMID:12166651|PMID:12196481|PMID:12475776|PMID:12941782|PMID:14593442|PMID:14692646|PMID:14715863|PMID:14764815|PMID:15111507|PMID:15356046|PMID:15466080|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15807877|PMID:15842514|PMID:15855351|PMID:16199547|PMID:16357843|PMID:16367916|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16860127|PMID:16882742|PMID:16885549|PMID:16969006|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17539904|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:17919176|PMID:18025408|PMID:18073294|PMID:18339976|PMID:18346985|PMID:18414213|PMID:18436707|PMID:18493152|PMID:18596924|PMID:18599530|PMID:18758683|PMID:18767144|PMID:18796520|PMID:18981553|PMID:18988933|PMID:19151370|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20424228|PMID:20427569|PMID:20432820|PMID:20672374|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21321069|PMID:21378087|PMID:21411514|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21716120|PMID:21814221|PMID:21851374|PMID:21978130|PMID:21989597|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22562119|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22802590|PMID:22855730|PMID:22902787|PMID:23067144|PMID:23226049|PMID:23261959|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23744072|PMID:23771172|PMID:23771920|PMID:24145932|PMID:24332968|PMID:24401662|PMID:24434300|PMID:24616771|PMID:24645945|PMID:24686051|PMID:24768178|PMID:24814349|PMID:24937539|PMID:24959012|PMID:25008049|PMID:25117148|PMID:25201519|PMID:25306193|PMID:25518065|PMID:25525159|PMID:25555642|PMID:25584046|PMID:25639667|PMID:25741868|PMID:25765446|PMID:25781672|PMID:25871929|PMID:25931474|PMID:25955821|PMID:25972930|PMID:26180531|PMID:26221353|PMID:26246406|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26594346|PMID:26740944|PMID:26758964|PMID:26839896|PMID:27175728|PMID:27188453|PMID:27538677|PMID:27573238|PMID:27677908|PMID:27682711|PMID:27754802|PMID:27908292|PMID:28095440|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28701683|PMID:28757749|PMID:29207974|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30114684|PMID:30186238|PMID:30297969|PMID:30352420|PMID:30386300|PMID:30447144|PMID:30515958|PMID:31464105|PMID:31604004|PMID:32027066|PMID:32333556|PMID:32670376|PMID:32792356|PMID:32934261|PMID:32935446|PMID:33185579|PMID:33240318|PMID:33400071|PMID:33410562|PMID:34194474|PMID:34309670|PMID:34631896|PMID:34777243|PMID:35402560|PMID:7716548|PMID:8923011|PMID:9041101|PMID:9075812|PMID:9519757|PMID:9536098|PMID:9568693|PMID:9618169|PMID:9642650|PMID:9648840|PMID:9769320|PMID:9867219 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:2018 hyperinsulinism ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive PMID:10202168|PMID:10204114|PMID:1021286|PMID:10338089|PMID:10426386|PMID:10447255|PMID:10487673|PMID:10615958|PMID:10685979|PMID:10685980|PMID:10720932|PMID:10828824|PMID:10857971|PMID:10923633|PMID:10993895|PMID:11226335|PMID:11272143|PMID:11318841|PMID:11395395|PMID:11457841|PMID:11692183|PMID:11697420|PMID:11867634|PMID:11872696|PMID:11999683|PMID:12166651|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:12941782|PMID:14593442|PMID:14692646|PMID:14715863|PMID:14764815|PMID:15111507|PMID:15356046|PMID:15466080|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15807877|PMID:15842514|PMID:15855351|PMID:16199547|PMID:16357843|PMID:16367916|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16860127|PMID:16882742|PMID:16885549|PMID:16969006|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17539904|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:17919176|PMID:18025408|PMID:18025464|PMID:18073294|PMID:18339976|PMID:18346985|PMID:18414213|PMID:18436707|PMID:18493152|PMID:18596924|PMID:18599530|PMID:18758683|PMID:18767144|PMID:18796520|PMID:18981553|PMID:18988933|PMID:19151370|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:19933268|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20432820|PMID:20672374|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21321069|PMID:21378087|PMID:21411514|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21716120|PMID:21814221|PMID:21851374|PMID:21978130|PMID:21989597|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22562119|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22802363|PMID:22802590|PMID:22855730|PMID:22902787|PMID:23067144|PMID:23226049|PMID:23261959|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23744072|PMID:23771172|PMID:23771920|PMID:24145932|PMID:24332968|PMID:24401662|PMID:24434300|PMID:24616771|PMID:24645945|PMID:24686051|PMID:24768178|PMID:24814349|PMID:24937539|PMID:24959012|PMID:25008049|PMID:25117148|PMID:25201519|PMID:25306193|PMID:25518065|PMID:25525159|PMID:25555642|PMID:25584046|PMID:25639667|PMID:25741868|PMID:25765446|PMID:25781672|PMID:25871929|PMID:25931474|PMID:25955821|PMID:25972930|PMID:26180531|PMID:26221353|PMID:26246406|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26594346|PMID:26740944|PMID:26758964|PMID:26839896|PMID:27175728|PMID:27188453|PMID:27538677|PMID:27573238|PMID:27677908|PMID:27681997|PMID:27682711|PMID:27754802|PMID:27908292|PMID:27913849|PMID:28095440|PMID:28439221|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28663158|PMID:28701683|PMID:28757749|PMID:29207974|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30114684|PMID:30186238|PMID:30191644|PMID:30297969|PMID:30352420|PMID:30354297|PMID:30386300|PMID:30447144|PMID:30462810|PMID:30515958|PMID:31291970|PMID:31464105|PMID:31604004|PMID:32027066|PMID:32041611|PMID:32333556|PMID:32640185|PMID:32670376|PMID:32792356|PMID:32934261|PMID:32935446|PMID:33046911|PMID:33185579|PMID:33240318|PMID:33300273|PMID:33400071|PMID:33410562|PMID:34171966|PMID:34194474|PMID:34309670|PMID:34462253|PMID:34566892|PMID:34631896|PMID:34777243|PMID:35402560|PMID:7716548|PMID:8923011|PMID:9041101|PMID:9075812|PMID:9519757|PMID:9536098|PMID:9568693|PMID:9618169|PMID:9642650|PMID:9648840|PMID:9769320|PMID:9867219 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:2018 hyperinsulinism susceptibility ISO RGD:733938 D RGD:9068941 20200609 RGD PMID:12199344|REF_RGD_ID:1598639 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3786 D RGD:9068941 20200609 RGD PMID:23149556|PMID:24602692|REF_RGD_ID:12790979|REF_RGD_ID:12791996 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:4724 brain edema ISO RGD:733938 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cerebral edema PMID:25741868|PMID:26467025|PMID:27677908|PMID:28492532 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:4724 brain edema treatment ISO RGD:3786 D RGD:9068941 20200609 RGD associated with Neoplasms, Experimental PMID:23633925|REF_RGD_ID:12791991 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:6000 congestive heart failure ISO RGD:733938 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:630 genetic disease ISO RGD:733938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:10204114|PMID:10447255|PMID:10487673|PMID:10923633|PMID:11272143|PMID:11999683|PMID:12941782|PMID:14692646|PMID:14715863|PMID:15356046|PMID:15562009|PMID:15579781|PMID:16357843|PMID:16429405|PMID:16860127|PMID:17378627|PMID:18339976|PMID:18414213|PMID:18493152|PMID:20672374|PMID:21716120|PMID:21851374|PMID:23345197|PMID:24401662|PMID:25306193|PMID:25972930|PMID:26467025|PMID:27175728|PMID:27754802|PMID:28492532|PMID:7716548|PMID:8923011|PMID:9618169|PMID:9648840 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:630 genetic disease ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10204114|PMID:10447255|PMID:10487673|PMID:10923633|PMID:11272143|PMID:11999683|PMID:12941782|PMID:14692646|PMID:14715863|PMID:15111507|PMID:15356046|PMID:15562009|PMID:15579781|PMID:15580558|PMID:15718250|PMID:15842514|PMID:16357843|PMID:16429405|PMID:16613899|PMID:16860127|PMID:16885549|PMID:17378627|PMID:18025408|PMID:18339976|PMID:18414213|PMID:18493152|PMID:18599530|PMID:18662362|PMID:18758683|PMID:18767144|PMID:18981553|PMID:19475716|PMID:20672374|PMID:20685672|PMID:20943779|PMID:21544516|PMID:21716120|PMID:21851374|PMID:21989597|PMID:22704848|PMID:22902787|PMID:23275527|PMID:23345197|PMID:24401662|PMID:24411943|PMID:24768178|PMID:24959012|PMID:25008049|PMID:25306193|PMID:25741868|PMID:25931474|PMID:25955821|PMID:25972930|PMID:26221353|PMID:26448950|PMID:26467025|PMID:27175728|PMID:27538677|PMID:27754802|PMID:27908292|PMID:27913849|PMID:28442472|PMID:28492532|PMID:31291970|PMID:31604004|PMID:32027066|PMID:32792356|PMID:33046911|PMID:33300273|PMID:34309670|PMID:35402560|PMID:7716548|PMID:8923011|PMID:9075812|PMID:9618169|PMID:9648840 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:8488 polyhydramnios ISO RGD:733938 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Polyhydramnios PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:8534 gastroesophageal reflux disease ISO RGD:733938 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Gastroesophageal reflux PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9000039 Spinal Cord Injuries ISO RGD:733938 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:20410530|REF_RGD_ID:12790978 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9000039 Spinal Cord Injuries ISO RGD:736889 D RGD:9068941 20200609 RGD PMID:20410530|REF_RGD_ID:12790978 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:3786 D RGD:9068941 20200609 RGD PMID:20410530|PMID:25763638|REF_RGD_ID:12790978|REF_RGD_ID:12791993 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:3786 D RGD:9068941 20200609 RGD PMID:24114458|REF_RGD_ID:10003028 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9000998 Brain Injuries treatment ISO RGD:3786 D RGD:9068941 20200609 RGD PMID:21107131|REF_RGD_ID:12791995 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9001031 Retrognathia ISO RGD:733938 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: retrognathism PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9001250 Transient Neonatal Diabetes Mellitus, 3 ISO RGD:733938 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 3 PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16455067|PMID:17257281|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18414213|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:25741868|PMID:26448950|PMID:26467025|PMID:28492532|PMID:29893194|PMID:32935446|PMID:9867219 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9002221 Hyperplasia ISO RGD:733938 D RGD:9068941 20200609 RGD associated with Hyperinsulinism;DNA:missense mutations:exon:p.R1353P, p.R1421C, p.R1494W (human) PMID:9769320|REF_RGD_ID:2325205 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9002279 Permanent Neonatal Diabetes Mellitus 3 ISO RGD:733938 D RGD:7240710 20200520 OMIM 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9002279 Permanent Neonatal Diabetes Mellitus 3 ISO RGD:733938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 3 PMID:10204114|PMID:10426386|PMID:10685980|PMID:10857971|PMID:14715863|PMID:15513899|PMID:16357843|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16613899|PMID:16885549|PMID:17378627|PMID:17466004|PMID:17539904|PMID:17576681|PMID:17668386|PMID:17823772|PMID:17919176|PMID:18025408|PMID:18414213|PMID:18436707|PMID:18767144|PMID:18981553|PMID:19475716|PMID:19766903|PMID:20301620|PMID:20849526|PMID:21142918|PMID:21814221|PMID:21989597|PMID:22151254|PMID:22210575|PMID:22533711|PMID:22802590|PMID:23275527|PMID:23345197|PMID:25741868|PMID:25871929|PMID:25972930|PMID:26180531|PMID:26431509|PMID:26467025|PMID:27538677|PMID:27677908|PMID:28492532|PMID:28587604|PMID:28757749|PMID:29751826|PMID:30114684|PMID:30297969|PMID:30447144|PMID:30515958|PMID:31464105|PMID:31604004|PMID:32027066|PMID:32041611|PMID:32640185|PMID:32792356|PMID:32893419|PMID:33400071|PMID:34171966|PMID:34194474|PMID:34462253|PMID:34777243|PMID:8923011|PMID:9536098 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9003816 Macrocephaly ISO RGD:733938 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9005129 Transient Neonatal Diabetes Mellitus, 2 ISO RGD:733938 D RGD:7240710 20180130 OMIM 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9005129 Transient Neonatal Diabetes Mellitus, 2 ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 2 PMID:10204114|PMID:10338089|PMID:10426386|PMID:10447255|PMID:10487673|PMID:10685980|PMID:10720932|PMID:10857971|PMID:10923633|PMID:11272143|PMID:11867634|PMID:11999683|PMID:12166651|PMID:12784138|PMID:12941782|PMID:14692646|PMID:14715863|PMID:14764815|PMID:15111507|PMID:15356046|PMID:15466080|PMID:15562009|PMID:15579781|PMID:15580558|PMID:15718250|PMID:15842514|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16367916|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16613899|PMID:16860127|PMID:16882742|PMID:16885549|PMID:17236890|PMID:17378627|PMID:17389331|PMID:17446535|PMID:17466004|PMID:17539904|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:17919176|PMID:17957187|PMID:18025408|PMID:18025464|PMID:18073294|PMID:18339976|PMID:18346985|PMID:18414213|PMID:18436707|PMID:18493152|PMID:18596924|PMID:18599530|PMID:18758683|PMID:18767144|PMID:18796520|PMID:18981553|PMID:18988933|PMID:19151370|PMID:19475716|PMID:19766903|PMID:19933268|PMID:20427569|PMID:20432820|PMID:20672374|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20922570|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21321069|PMID:21378087|PMID:21411514|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21674179|PMID:21716120|PMID:21814221|PMID:21851374|PMID:21978130|PMID:21989597|PMID:22151254|PMID:22210575|PMID:22451668|PMID:22533711|PMID:22562119|PMID:22704848|PMID:22749773|PMID:22802363|PMID:22855730|PMID:22902787|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23506826|PMID:23652837|PMID:23744072|PMID:23798684|PMID:23807917|PMID:24033266|PMID:24080777|PMID:24332968|PMID:24401662|PMID:24434300|PMID:24616771|PMID:24622368|PMID:24645945|PMID:24750227|PMID:24768178|PMID:24814349|PMID:24937539|PMID:24959012|PMID:25008049|PMID:25117148|PMID:25201519|PMID:25306193|PMID:25518065|PMID:25525159|PMID:25555642|PMID:25584046|PMID:25720052|PMID:25741868|PMID:25765446|PMID:25871929|PMID:25931474|PMID:25955821|PMID:25972930|PMID:26180531|PMID:26221353|PMID:26316440|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26545620|PMID:26740944|PMID:26758964|PMID:26839896|PMID:27175728|PMID:27188453|PMID:27313609|PMID:27538677|PMID:27573238|PMID:27677908|PMID:27681997|PMID:27682711|PMID:27754802|PMID:27908292|PMID:27913849|PMID:28270372|PMID:28346775|PMID:28442472|PMID:28492532|PMID:28529015|PMID:28587604|PMID:28663158|PMID:28701683|PMID:28757749|PMID:29127764|PMID:29207974|PMID:29216354|PMID:29644095|PMID:29751826|PMID:30098243|PMID:30186238|PMID:30191644|PMID:30297969|PMID:30352420|PMID:30354297|PMID:30386300|PMID:30395892|PMID:30447144|PMID:30462810|PMID:30515958|PMID:30977832|PMID:31002010|PMID:31264968|PMID:31291970|PMID:31595705|PMID:31604004|PMID:32027066|PMID:32041611|PMID:32376986|PMID:32640185|PMID:32670376|PMID:32792356|PMID:32893419|PMID:32928245|PMID:32934261|PMID:33046911|PMID:33300273|PMID:33400071|PMID:33410562|PMID:33728157|PMID:34171966|PMID:34194474|PMID:34309670|PMID:34462253|PMID:34631896|PMID:34777243|PMID:35402560|PMID:7716548|PMID:8650576|PMID:8923011|PMID:9075812|PMID:9382893|PMID:9519757|PMID:9536098|PMID:9568693|PMID:9618169|PMID:9642650|PMID:9648840|PMID:9769320 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9005603 Muscle Hypotonia ISO RGD:733938 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9005749 Necrosis ISO RGD:3786 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries PMID:17657312|REF_RGD_ID:2301913 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9005930 Endotoxemia ISO RGD:3786 D RGD:9068941 20200609 RGD PMID:17285300|REF_RGD_ID:2301914 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9006009 Neonatal Hypoglycemia, Simulating Foetopathia Diabetica ISO RGD:733938 D RGD:8554872 20220705 ClinVar ClinVar Annotator: match by term: Neonatal hypoglycemia PMID:10857971|PMID:16885549|PMID:17466004|PMID:21814221|PMID:25741868|PMID:26467025|PMID:28492532 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9006257 Growth Disorders ISO RGD:733938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth Retardation PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:733938 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Congenital hyperinsulinism | ClinVar Annotator: match by term: Familial hyperinsulinism | ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL PMID:10194514|PMID:10334322|PMID:10338089|PMID:10447255|PMID:10487673|PMID:10615958|PMID:10685980|PMID:10720932|PMID:10923633|PMID:11226335|PMID:11272143|PMID:11318841|PMID:11692183|PMID:11872696|PMID:11999683|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:12784138|PMID:12941782|PMID:14692646|PMID:14715863|PMID:14764815|PMID:15111507|PMID:15356046|PMID:15466080|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15797964|PMID:15807877|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16860127|PMID:16882742|PMID:16885549|PMID:16969006|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:17919176|PMID:18025408|PMID:18339976|PMID:18414213|PMID:18436707|PMID:18493152|PMID:18758683|PMID:18767144|PMID:18796520|PMID:18981553|PMID:18988933|PMID:19151370|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20432820|PMID:20672374|PMID:20685672|PMID:20799350|PMID:20943781|PMID:21199866|PMID:21321069|PMID:21378087|PMID:21716120|PMID:21835061|PMID:21851374|PMID:21968111|PMID:21989597|PMID:21992908|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22311976|PMID:22591706|PMID:22704848|PMID:22802590|PMID:22855730|PMID:23067144|PMID:23261959|PMID:23275527|PMID:23345197|PMID:23506826|PMID:23652837|PMID:23744072|PMID:23771172|PMID:24145932|PMID:24401662|PMID:24434300|PMID:24616771|PMID:24645945|PMID:24686051|PMID:24937539|PMID:25008049|PMID:25117148|PMID:25201519|PMID:25306193|PMID:25323548|PMID:25518065|PMID:25639667|PMID:25741868|PMID:25781672|PMID:25931474|PMID:25972930|PMID:26180531|PMID:26431509|PMID:26467025|PMID:26740944|PMID:27175728|PMID:27188453|PMID:27538677|PMID:27573238|PMID:27682711|PMID:27754802|PMID:27810688|PMID:27908292|PMID:28270372|PMID:28439221|PMID:28442472|PMID:28492532|PMID:29082728|PMID:29893194|PMID:30114684|PMID:30186238|PMID:30352420|PMID:30354297|PMID:30386300|PMID:30395892|PMID:30462810|PMID:30487145|PMID:31218401|PMID:31464105|PMID:32027066|PMID:32670376|PMID:32792356|PMID:33046911|PMID:33240318|PMID:33410562|PMID:33587123|PMID:34566892|PMID:34764980|PMID:7716548|PMID:8751851|PMID:8923011|PMID:9041101|PMID:9536098|PMID:9618169|PMID:9648840|PMID:9867219 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9007096 Stroke ISO RGD:733938 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:17673715|REF_RGD_ID:2301906 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9007290 Traumatic Subarachnoid Hemorrhage treatment ISO RGD:3786 D RGD:9068941 20200609 RGD PMID:18854840|REF_RGD_ID:2325137 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9007661 Dwarfism ISO RGD:733938 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:736889 D RGD:9068941 20200609 RGD PMID:18316485|REF_RGD_ID:2301903 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9351 diabetes mellitus ISO RGD:733938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:10204114|PMID:10685979|PMID:10685980|PMID:10720932|PMID:10828824|PMID:14692646|PMID:14715863|PMID:14764815|PMID:15562009|PMID:16357843|PMID:16416420|PMID:16613899|PMID:16885549|PMID:17236890|PMID:17389331|PMID:17446535|PMID:17668386|PMID:18025408|PMID:18025464|PMID:18346985|PMID:18414213|PMID:18599530|PMID:18981553|PMID:19342262|PMID:20685672|PMID:20799350|PMID:20943781|PMID:21214702|PMID:21378087|PMID:21989597|PMID:22210575|PMID:22562119|PMID:22855730|PMID:23093687|PMID:23226049|PMID:23275527|PMID:23345197|PMID:23771920|PMID:24622368|PMID:24768178|PMID:24814349|PMID:25306193|PMID:25525159|PMID:25555642|PMID:25741868|PMID:26467025|PMID:26839896|PMID:27271189|PMID:27538677|PMID:27681997|PMID:27908292|PMID:28095440|PMID:28346775|PMID:28492532|PMID:29207974|PMID:29216354|PMID:30487145|PMID:31002010|PMID:32027066|PMID:32041611|PMID:32640185|PMID:32792356|PMID:33013711|PMID:33300273|PMID:33587123|PMID:33606663|PMID:34631896|PMID:9618169|PMID:9648840 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733938 D RGD:7240710 20180130 OMIM 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733938 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10204114|PMID:10426386|PMID:10685980|PMID:11872696|PMID:12196481|PMID:12475776|PMID:15579791|PMID:15797964|PMID:15855351|PMID:16380471|PMID:16416420|PMID:16442101|PMID:16455067|PMID:16885549|PMID:17257281|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17539904|PMID:17823772|PMID:18025464|PMID:18414213|PMID:18596924|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20424228|PMID:20799350|PMID:20849526|PMID:20943779|PMID:21142918|PMID:21378087|PMID:21544516|PMID:21674179|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22704848|PMID:22855730|PMID:23275527|PMID:23345197|PMID:24401662|PMID:25306193|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29751826|PMID:30098243|PMID:30297969|PMID:30447144|PMID:30977832|PMID:31604004|PMID:31997554|PMID:32027066|PMID:32893419|PMID:34194474|PMID:8650576|PMID:8923011|PMID:9382893|PMID:9519757|PMID:9648840|PMID:9867219 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733938 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10204114|PMID:10426386|PMID:10685980|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15797964|PMID:15807877|PMID:15855351|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17539904|PMID:17823772|PMID:18025408|PMID:18025464|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18981553|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21674179|PMID:21989597|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22704848|PMID:22855730|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24145932|PMID:24332968|PMID:24401662|PMID:25306193|PMID:25741868|PMID:25765446|PMID:26379717|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27538677|PMID:27908292|PMID:28492532|PMID:28587604|PMID:28701683|PMID:28757749|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30098243|PMID:30297969|PMID:30386300|PMID:30447144|PMID:30515958|PMID:30977832|PMID:31604004|PMID:31997554|PMID:32027066|PMID:32792356|PMID:32893419|PMID:32928245|PMID:33013711|PMID:33240318|PMID:33400071|PMID:33410562|PMID:34194474|PMID:34309670|PMID:35402560|PMID:8650576|PMID:8923011|PMID:9382893|PMID:9519757|PMID:9648840|PMID:9867219 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus PMID:10204114|PMID:10426386|PMID:10685980|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15797964|PMID:15807877|PMID:15855351|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17539904|PMID:17823772|PMID:18025408|PMID:18025464|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18981553|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21674179|PMID:21989597|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22704848|PMID:22749773|PMID:22855730|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24145932|PMID:24332968|PMID:24401662|PMID:24622368|PMID:25306193|PMID:25741868|PMID:25765446|PMID:25972930|PMID:26180531|PMID:26379717|PMID:26431509|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27538677|PMID:27681997|PMID:27908292|PMID:28439221|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28701683|PMID:28757749|PMID:29127764|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30098243|PMID:30186238|PMID:30297969|PMID:30386300|PMID:30447144|PMID:30487145|PMID:30515958|PMID:30977832|PMID:31604004|PMID:31997554|PMID:32027066|PMID:32041611|PMID:32640185|PMID:32792356|PMID:32893419|PMID:32928245|PMID:33013711|PMID:33240318|PMID:33400071|PMID:33410562|PMID:33587123|PMID:34171966|PMID:34194474|PMID:34309670|PMID:34462253|PMID:35402560|PMID:8650576|PMID:8923011|PMID:9382893|PMID:9519757|PMID:9648840|PMID:9867219 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus PMID:10204114|PMID:10426386|PMID:10685980|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15797964|PMID:15807877|PMID:15855351|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17539904|PMID:17823772|PMID:18025408|PMID:18025464|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18981553|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21674179|PMID:21989597|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22704848|PMID:22749773|PMID:22855730|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24145932|PMID:24332968|PMID:24401662|PMID:24622368|PMID:25306193|PMID:25741868|PMID:25765446|PMID:25972930|PMID:26180531|PMID:26379717|PMID:26431509|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27538677|PMID:27681997|PMID:27908292|PMID:27913849|PMID:28439221|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28701683|PMID:28757749|PMID:29127764|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30098243|PMID:30186238|PMID:30297969|PMID:30386300|PMID:30447144|PMID:30487145|PMID:30515958|PMID:30977832|PMID:31604004|PMID:31997554|PMID:32027066|PMID:32041611|PMID:32640185|PMID:32792356|PMID:32893419|PMID:32928245|PMID:33013711|PMID:33240318|PMID:33400071|PMID:33410562|PMID:33587123|PMID:34171966|PMID:34194474|PMID:34309670|PMID:34462253|PMID:35402560|PMID:8650576|PMID:8923011|PMID:9382893|PMID:9519757|PMID:9648840|PMID:9867219 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:733938 D RGD:9068941 20200609 RGD PMID:15579791|REF_RGD_ID:1598640 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:733938 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.R248Q, p.K1521N, p.Y356C (human) PMID:18346985|REF_RGD_ID:2301901 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9744 type 1 diabetes mellitus ISO RGD:733938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18025464 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9970 obesity ISO RGD:733938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Obesity PMID:15562009|PMID:16199547|PMID:17236890|PMID:20685672|PMID:23275527|PMID:23345197|PMID:24401662|PMID:25741868|PMID:26740944|PMID:28492532 11993162 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9993 hypoglycemia ISO RGD:733938 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hypoglycemia PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:23275527|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 11993211 USP14 ubiquitin specific peptidase 14 gene DOID:0050646 distal arthrogryposis ISO RGD:1323483 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis and CNS involvement PMID:25741868|PMID:35066879 11993211 USP14 ubiquitin specific peptidase 14 gene DOID:12849 autistic disorder ISO RGD:1323483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11993211 USP14 ubiquitin specific peptidase 14 gene DOID:630 genetic disease ISO RGD:1323483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11993211 USP14 ubiquitin specific peptidase 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11993236 OSR1 odd-skipped related transcription factor 1 gene DOID:630 genetic disease ISO RGD:1605876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11993243 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:25741868|PMID:26477325|PMID:28252636|PMID:28492532|PMID:28806457|PMID:29264397|PMID:31512327|PMID:31513310|PMID:31600826|PMID:32581362|PMID:32954514|PMID:33951346 11993243 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:732211 D RGD:7240710 20180130 OMIM 11993243 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:732211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 | ClinVar Annotator: match by term: KCNB1-related disorder PMID:17576681|PMID:19029374|PMID:25131622|PMID:25164438|PMID:25741868|PMID:26467025|PMID:26477325|PMID:26503721|PMID:26648591|PMID:27652284|PMID:27928161|PMID:28173649|PMID:28252636|PMID:28492532|PMID:28806457|PMID:29264397|PMID:29322350|PMID:31512327|PMID:31513310|PMID:31600826|PMID:31780880|PMID:31791873|PMID:32036363|PMID:32581362|PMID:32954514|PMID:33132203|PMID:33951346|PMID:8698327|PMID:9536098 11993243 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:0080461 developmental and epileptic encephalopathy 26 exacerbates ISO RGD:732212 D RGD:9068941 20210507 RGD DNA:missense mutation:CDS:p.G379R (mouse) PMID:33132203|REF_RGD_ID:126908009 11993243 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:0080461 developmental and epileptic encephalopathy 26 susceptibility ISO RGD:732211 D RGD:9068941 20210507 RGD DNA:missense mutations, nonsense mutations, frameshift mutation:CDS:multiple (human) PMID:28806457|REF_RGD_ID:126908008 11993243 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:28492532|PMID:31600826|PMID:32954514 11993243 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:1059 intellectual disability ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26477325|PMID:27652284|PMID:28492532|PMID:28806457|PMID:29264397|PMID:31512327|PMID:31513310|PMID:31600826|PMID:32581362|PMID:32954514 11993243 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:12377 spinal muscular atrophy ISO RGD:732212 D RGD:9068941 20210507 RGD protein:decreased expression:second lumbar spinal cord segment, motor neuron, neuronal cell body (mouse) PMID:28504671|REF_RGD_ID:126908005 11993243 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:1826 epilepsy ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:31600826|PMID:32954514 11993243 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:1826 epilepsy disease_progression ISO RGD:732212 D RGD:9068941 20210507 RGD PMID:24494598|REF_RGD_ID:126908006 11993243 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:1826 epilepsy susceptibility ISO RGD:732211 D RGD:9068941 20210507 RGD DNA:missense mutations, nonsense mutations, frameshift mutation:CDS:multiple (human) PMID:32954514|REF_RGD_ID:126908007 11993243 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:5419 schizophrenia ISO RGD:732211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26240432 11993243 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:630 genetic disease ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1881453|PMID:23705070|PMID:25164438|PMID:25741868|PMID:27652284|PMID:28492532|PMID:31600826|PMID:33144682|PMID:8398157|PMID:8541859|PMID:9526001 11993243 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2954 D RGD:9068941 20210507 RGD protein:decreased expression:tibial nerve, motor neuron, neuronal cell body (rat) PMID:24355600|REF_RGD_ID:126908004 11993243 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25164438|PMID:25741868|PMID:26477325|PMID:28492532|PMID:28806457|PMID:29264397|PMID:31512327|PMID:31513310|PMID:31600826|PMID:32581362|PMID:32954514 11993243 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:28492532 11993243 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:732211 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Myoclonic absence seizure PMID:25741868|PMID:26477325|PMID:28492532|PMID:28806457|PMID:29264397|PMID:31512327|PMID:31513310|PMID:32581362 11993243 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:28492532|PMID:31600826|PMID:32954514 11993243 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:732211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11993243 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:9007114 Mobility Limitation ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Difficulty walking PMID:25741868|PMID:28492532|PMID:31600826|PMID:32954514 11993243 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:732211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15088113 11993257 DYNC1LI2 dynein cytoplasmic 1 light intermediate chain 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1344148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11993257 DYNC1LI2 dynein cytoplasmic 1 light intermediate chain 2 gene DOID:0110255 cataract 5 multiple types ISO RGD:1344148 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 11993257 DYNC1LI2 dynein cytoplasmic 1 light intermediate chain 2 gene DOID:630 genetic disease ISO RGD:1344148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11993257 DYNC1LI2 dynein cytoplasmic 1 light intermediate chain 2 gene DOID:9004657 Weight Gain ISO RGD:1344148 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11993274 ZNF678 zinc finger protein 678 gene DOID:1540 parathyroid carcinoma ISO RGD:1603154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11993274 ZNF678 zinc finger protein 678 gene DOID:630 genetic disease ISO RGD:1603154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11993274 ZNF678 zinc finger protein 678 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11993282 PUM2 pumilio RNA binding family member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1322257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11993282 PUM2 pumilio RNA binding family member 2 gene DOID:630 genetic disease ISO RGD:1322257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11993331 MSH4 mutS homolog 4 gene DOID:0070164 spermatogenic failure 2 ISO RGD:1319392 D RGD:7240710 20220706 OMIM 11993331 MSH4 mutS homolog 4 gene DOID:0070164 spermatogenic failure 2 ISO RGD:1319392 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 2 PMID:25741868|PMID:33437391|PMID:33448284|PMID:34755185|PMID:35090489 11993331 MSH4 mutS homolog 4 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1319392 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:33448284|PMID:34755185 11993331 MSH4 mutS homolog 4 gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:1319392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:28492532 11993331 MSH4 mutS homolog 4 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1319392 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:35090489 11993331 MSH4 mutS homolog 4 gene DOID:14228 oligospermia ISO RGD:1319392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligospermia PMID:25741868|PMID:33448284 11993331 MSH4 mutS homolog 4 gene DOID:5426 primary ovarian insufficiency ISO RGD:1319392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868|PMID:33448284 11993331 MSH4 mutS homolog 4 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1319392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 11993331 MSH4 mutS homolog 4 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1319392 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:35090489 11993331 MSH4 mutS homolog 4 gene DOID:630 genetic disease ISO RGD:1319392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11993331 MSH4 mutS homolog 4 gene DOID:9002716 Primary Ovarian Insufficiency 20 ISO RGD:1319392 D RGD:7240710 20220720 OMIM 11993331 MSH4 mutS homolog 4 gene DOID:9002716 Primary Ovarian Insufficiency 20 ISO RGD:1319392 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 20 PMID:25741868|PMID:28541421|PMID:33448284|PMID:34755185 11993355 TAS2R8 taste 2 receptor member 8 gene DOID:630 genetic disease ISO RGD:1344558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11993360 AAAS aladin WD repeat nucleoporin gene DOID:0050602 triple-A syndrome ISO RGD:1318625 D RGD:7240710 20180130 OMIM 11993360 AAAS aladin WD repeat nucleoporin gene DOID:0050602 triple-A syndrome ISO RGD:1318625 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ACTH-resistant adrenal insufficiency, achalasia and alacrima | ClinVar Annotator: match by term: Achalasia alacrima syndrome | ClinVar Annotator: match by term: Achalasia-Addisonianism-Alacrima (Triple-A) Syndrome | ClinVar Annotator: match by term: Achalasia-addisonianism-alacrimia syndrome | ClinVar Annotator: match by term: Achalasia-alacrima syndrome PMID:11062474|PMID:11159947|PMID:11701718|PMID:11914417|PMID:12429595|PMID:12700313|PMID:12730363|PMID:12752575|PMID:15173230|PMID:15666842|PMID:16199547|PMID:16609705|PMID:18172684|PMID:18261130|PMID:18414213|PMID:18615337|PMID:18628786|PMID:20674935|PMID:22538409|PMID:25741868|PMID:26243364|PMID:26595337|PMID:27133709|PMID:28492532|PMID:29255950|PMID:29874194|PMID:30069287|PMID:30455725|PMID:31600784 11993360 AAAS aladin WD repeat nucleoporin gene DOID:10907 microcephaly ISO RGD:1318625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11993360 AAAS aladin WD repeat nucleoporin gene DOID:630 genetic disease ISO RGD:1318625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11159947|PMID:12752575|PMID:18172684|PMID:22538409|PMID:25741868|PMID:26243364|PMID:28492532|PMID:29255950|PMID:30455725 11993360 AAAS aladin WD repeat nucleoporin gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 11993360 AAAS aladin WD repeat nucleoporin gene DOID:9002598 Spastic Paraparesis ISO RGD:1318625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraparesis PMID:11159947|PMID:12752575|PMID:18172684|PMID:22538409|PMID:25741868|PMID:26243364|PMID:28492532|PMID:29255950|PMID:30455725 11993360 AAAS aladin WD repeat nucleoporin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:11062474|PMID:11914417|PMID:25741868 11993360 AAAS aladin WD repeat nucleoporin gene DOID:9005219 Abnormal Reflexes ISO RGD:1318625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperreflexia PMID:11159947|PMID:12752575|PMID:18172684|PMID:22538409|PMID:25741868|PMID:26243364|PMID:28492532|PMID:29255950|PMID:30455725 11993360 AAAS aladin WD repeat nucleoporin gene DOID:9006534 Nervous System Malformations ISO RGD:1318625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11993360 AAAS aladin WD repeat nucleoporin gene DOID:9164 achalasia ISO RGD:1318625 D RGD:9068941 20200609 RGD PMID:16098009|REF_RGD_ID:1598514 11993398 EMID1 EMI domain containing 1 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1349411 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 11993398 EMID1 EMI domain containing 1 gene DOID:630 genetic disease ISO RGD:1349411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11993398 EMID1 EMI domain containing 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1349411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 11993417 ANAPC5 anaphase promoting complex subunit 5 gene DOID:630 genetic disease ISO RGD:1314558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11993442 PRSS53 serine protease 53 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:2860194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11993442 PRSS53 serine protease 53 gene DOID:630 genetic disease ISO RGD:2860194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11993472 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:0040083 Chlamydia pneumonia severity ISO RGD:1322206 D RGD:9068941 20201211 RGD PMID:29893841|REF_RGD_ID:40890270 11993472 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:0040084 Streptococcus pneumonia treatment ISO RGD:1322206 D RGD:9068941 20201211 RGD associated with immunodeficiency 14 PMID:30093657|REF_RGD_ID:40890269 11993472 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1322205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11993472 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1322205 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21173233 11993472 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:0050746 mantle cell lymphoma ISO RGD:1322205 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23676220 11993472 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1322205 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11993472 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:0111936 immunodeficiency 14 ISO RGD:1322205 D RGD:7240710 20180130 OMIM 11993472 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:0111936 immunodeficiency 14 ISO RGD:1322205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Activated PI3K-delta syndrome | ClinVar Annotator: match by term: Immunodeficiency 14 | ClinVar Annotator: match by term: Immunodeficiency 14b, autosomal recessive PMID:16984281|PMID:17576681|PMID:24136356|PMID:24165795|PMID:24610295|PMID:25352054|PMID:25741868|PMID:26437962|PMID:26732860|PMID:27426521|PMID:27555459|PMID:27577878|PMID:27697496|PMID:28104464|PMID:28167755|PMID:28190860|PMID:28492532|PMID:29330011|PMID:29921932|PMID:30138677|PMID:30499059|PMID:30639166|PMID:31031754|PMID:31537641|PMID:32084423|PMID:32581362|PMID:32681977|PMID:34115277|PMID:9536098 11993472 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:11573 listeriosis ISO RGD:1322206 D RGD:9068941 20201211 RGD PMID:26311905|REF_RGD_ID:40890274 11993472 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:1380 endometrial cancer ISO RGD:1352691 D RGD:9068941 20200609 RGD PMID:21478295|REF_RGD_ID:13441595 11993472 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:14115 toxic shock syndrome severity ISO RGD:1322206 D RGD:9068941 20201211 RGD PMID:28659355|REF_RGD_ID:40890272 11993472 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:3068 glioblastoma disease_progression ISO RGD:1322205 D RGD:9068941 20200609 RGD PMID:24523440|REF_RGD_ID:13782051 11993472 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:612 primary immunodeficiency disease ISO RGD:1322205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:16984281|PMID:24136356|PMID:24165795|PMID:24610295|PMID:25352054|PMID:25741868|PMID:26437962|PMID:26732860|PMID:28492532|PMID:32581362 11993472 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:630 genetic disease ISO RGD:1322205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11993472 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:9000886 Roifman-Chitayat Syndrome ISO RGD:1322205 D RGD:7240710 20210505 OMIM 11993472 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:9000886 Roifman-Chitayat Syndrome ISO RGD:1322205 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Roifman-Chitayat syndrome | ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic PMID:16984281|PMID:17576681|PMID:19863561|PMID:24136356|PMID:24165795|PMID:24610295|PMID:25352054|PMID:25741868|PMID:26437962|PMID:26732860|PMID:28492532|PMID:29180244|PMID:29921932|PMID:32581362|PMID:9536098 11993472 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322205 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 11993472 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:9002457 Experimental Arthritis ISO RGD:1322206 D RGD:9068941 20200609 RGD PMID:18412166|REF_RGD_ID:6482696 11993472 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11993472 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:9111 cutaneous leishmaniasis treatment ISO RGD:1322206 D RGD:9068941 20201211 RGD PMID:27999013|REF_RGD_ID:40890273 11993472 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:9146 visceral leishmaniasis treatment ISO RGD:1322206 D RGD:9068941 20201211 RGD PMID:27999013|REF_RGD_ID:40890273 11993472 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:9256 colorectal cancer ISO RGD:1322205 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:25366420|REF_RGD_ID:13432038 11993508 PPP2R1B protein phosphatase 2 scaffold subunit Abeta gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1312396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 11993508 PPP2R1B protein phosphatase 2 scaffold subunit Abeta gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1312396 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 11993508 PPP2R1B protein phosphatase 2 scaffold subunit Abeta gene DOID:1059 intellectual disability ISO RGD:1312396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11993508 PPP2R1B protein phosphatase 2 scaffold subunit Abeta gene DOID:12704 ataxia telangiectasia ISO RGD:1312396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11993508 PPP2R1B protein phosphatase 2 scaffold subunit Abeta gene DOID:3905 lung carcinoma ISO RGD:1312396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:11996789|PMID:9765152 11993508 PPP2R1B protein phosphatase 2 scaffold subunit Abeta gene DOID:630 genetic disease ISO RGD:1312396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11993508 PPP2R1B protein phosphatase 2 scaffold subunit Abeta gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1312396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11993508 PPP2R1B protein phosphatase 2 scaffold subunit Abeta gene DOID:9005172 Lung Neoplasms ISO RGD:1312396 D RGD:7240710 20180130 OMIM 11993508 PPP2R1B protein phosphatase 2 scaffold subunit Abeta gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1312396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 11993537 SLFN14 schlafen family member 14 gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:1602272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 11993537 SLFN14 schlafen family member 14 gene DOID:0111055 platelet-type bleeding disorder 20 ISO RGD:1602272 D RGD:7240710 20190315 OMIM 11993537 SLFN14 schlafen family member 14 gene DOID:0111055 platelet-type bleeding disorder 20 ISO RGD:1602272 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Platelet-type bleeding disorder 20 PMID:25741868|PMID:26280575|PMID:26769223|PMID:28492532|PMID:29678925|PMID:32581362 11993537 SLFN14 schlafen family member 14 gene DOID:2213 hemorrhagic disease ISO RGD:1602272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:26280575|PMID:32581362 11993537 SLFN14 schlafen family member 14 gene DOID:630 genetic disease ISO RGD:1602272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26280575|PMID:28492532|PMID:29678925 11993544 ZNF843 zinc finger protein 843 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:2300359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11993544 ZNF843 zinc finger protein 843 gene DOID:630 genetic disease ISO RGD:2300359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11993548 TAC1 tachykinin precursor 1 gene DOID:0060180 colitis ISO RGD:3807 D RGD:9068941 20200609 RGD PMID:18715640|REF_RGD_ID:2304260 11993548 TAC1 tachykinin precursor 1 gene DOID:0060500 drug allergy ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21233199 11993548 TAC1 tachykinin precursor 1 gene DOID:10124 corneal disease ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12824234 11993548 TAC1 tachykinin precursor 1 gene DOID:10914 amnestic disorder ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20600432|PMID:7562510|PMID:9521815 11993548 TAC1 tachykinin precursor 1 gene DOID:1205 allergic disease ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11160071 11993548 TAC1 tachykinin precursor 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:3807 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung PMID:10516226|REF_RGD_ID:5147822 11993548 TAC1 tachykinin precursor 1 gene DOID:12783 migraine without aura ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11304026 11993548 TAC1 tachykinin precursor 1 gene DOID:1470 major depressive disorder ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15845098 11993548 TAC1 tachykinin precursor 1 gene DOID:2841 asthma ISO RGD:619560 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11031342|REF_RGD_ID:5147836 11993548 TAC1 tachykinin precursor 1 gene DOID:3312 bipolar disorder ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15845098 11993548 TAC1 tachykinin precursor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:619560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11993548 TAC1 tachykinin precursor 1 gene DOID:4989 pancreatitis ISO RGD:11379 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, pancreas PMID:16369913|REF_RGD_ID:5147636 11993548 TAC1 tachykinin precursor 1 gene DOID:5419 schizophrenia ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15845098 11993548 TAC1 tachykinin precursor 1 gene DOID:630 genetic disease ISO RGD:619560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11993548 TAC1 tachykinin precursor 1 gene DOID:6432 pulmonary hypertension ISO RGD:3807 D RGD:9068941 20200609 RGD PMID:12662901|REF_RGD_ID:5147638 11993548 TAC1 tachykinin precursor 1 gene DOID:8534 gastroesophageal reflux disease ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20616304 11993548 TAC1 tachykinin precursor 1 gene DOID:8986 narcolepsy ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17521418 11993548 TAC1 tachykinin precursor 1 gene DOID:9000197 Edema ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7508328 11993548 TAC1 tachykinin precursor 1 gene DOID:9000641 Pain ISO RGD:3807 D RGD:9068941 20200609 RGD PMID:17493276|REF_RGD_ID:2304337 11993548 TAC1 tachykinin precursor 1 gene DOID:9000641 Pain ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10445233|PMID:7694222 11993548 TAC1 tachykinin precursor 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16777450 11993548 TAC1 tachykinin precursor 1 gene DOID:9000784 Fibrosis ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28647476 11993548 TAC1 tachykinin precursor 1 gene DOID:9001109 Anorexia ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30336258 11993548 TAC1 tachykinin precursor 1 gene DOID:9001579 Neurogenic Inflammation ISO RGD:3807 D RGD:9068941 20200609 RGD PMID:18326823|REF_RGD_ID:2304321 11993548 TAC1 tachykinin precursor 1 gene DOID:9001579 Neurogenic Inflammation ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17257769|PMID:17961222|PMID:20138590|PMID:21570423|PMID:9291295 11993548 TAC1 tachykinin precursor 1 gene DOID:9002211 Hyperalgesia ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10499367|PMID:12351280|PMID:12787826|PMID:15626726|PMID:16259764|PMID:18234883|PMID:19231294|PMID:8864563|PMID:9714424 11993548 TAC1 tachykinin precursor 1 gene DOID:9002457 Experimental Arthritis ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9259450 11993548 TAC1 tachykinin precursor 1 gene DOID:9003132 Sialorrhea ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8938667 11993548 TAC1 tachykinin precursor 1 gene DOID:9004610 Acute Lung Injury ISO RGD:11379 D RGD:9068941 20200609 RGD PMID:19797759|REF_RGD_ID:5147812 11993548 TAC1 tachykinin precursor 1 gene DOID:9005236 Drug Eruptions ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1371395 11993548 TAC1 tachykinin precursor 1 gene DOID:9005372 Inflammation ISO RGD:3807 D RGD:9068941 20200609 RGD protein:increased expression:neuron PMID:18053315|REF_RGD_ID:2304327 11993548 TAC1 tachykinin precursor 1 gene DOID:9005372 Inflammation ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14499429|PMID:21294877|PMID:30116771|PMID:8880065 11993548 TAC1 tachykinin precursor 1 gene DOID:9005968 Neuralgia ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18400411 11993548 TAC1 tachykinin precursor 1 gene DOID:9006024 Hypotension ISO RGD:3807 D RGD:9068941 20200609 RGD PMID:18337316|REF_RGD_ID:2304320 11993548 TAC1 tachykinin precursor 1 gene DOID:9006024 Hypotension ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20138590|PMID:2445440 11993548 TAC1 tachykinin precursor 1 gene DOID:9006202 Pruritus ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19652466 11993548 TAC1 tachykinin precursor 1 gene DOID:9007001 Bradycardia ISO RGD:3807 D RGD:9068941 20200609 RGD PMID:2471579|REF_RGD_ID:2305984 11993548 TAC1 tachykinin precursor 1 gene DOID:9007001 Bradycardia ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2445440|PMID:8960879 11993548 TAC1 tachykinin precursor 1 gene DOID:9007730 Burns ISO RGD:11379 D RGD:9068941 20200609 RGD protein:increased expression:plasma, lung PMID:19797759|REF_RGD_ID:5147812 11993548 TAC1 tachykinin precursor 1 gene DOID:9008385 Vomiting ISO RGD:619560 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31738934 11993548 TAC1 tachykinin precursor 1 gene DOID:9008511 Extravasation of Diagnostic and Therapeutic Materials ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8938667|PMID:9622145 11993548 TAC1 tachykinin precursor 1 gene DOID:9009039 Hyperemia ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10564113|PMID:7507874 11993548 TAC1 tachykinin precursor 1 gene DOID:9220 central sleep apnea ISO RGD:3807 D RGD:9068941 20200609 RGD PMID:18420958|REF_RGD_ID:2304275 11993594 ZWINT ZW10 interacting kinetochore protein gene DOID:0080600 COVID-19 ISO RGD:1347195 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11993594 ZWINT ZW10 interacting kinetochore protein gene DOID:630 genetic disease ISO RGD:1347195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11993594 ZWINT ZW10 interacting kinetochore protein gene DOID:684 hepatocellular carcinoma ISO RGD:1347195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11993614 LOC100974743 lysosomal membrane ascorbate-dependent ferrireductase CYB561A3 gene DOID:0050777 Joubert syndrome ISO RGD:1350964 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 11993614 LOC100974743 lysosomal membrane ascorbate-dependent ferrireductase CYB561A3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350964 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11993614 LOC100974743 lysosomal membrane ascorbate-dependent ferrireductase CYB561A3 gene DOID:1059 intellectual disability ISO RGD:1350964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11993614 LOC100974743 lysosomal membrane ascorbate-dependent ferrireductase CYB561A3 gene DOID:630 genetic disease ISO RGD:1350964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11993636 SSTR4 somatostatin receptor 4 gene DOID:1824 status epilepticus ISO RGD:3764 D RGD:9068941 20200609 RGD PMID:18951627|REF_RGD_ID:2324996 11993636 SSTR4 somatostatin receptor 4 gene DOID:1824 status epilepticus ISO RGD:735550 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18951627 11993636 SSTR4 somatostatin receptor 4 gene DOID:630 genetic disease ISO RGD:735550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11993636 SSTR4 somatostatin receptor 4 gene DOID:9000998 Brain Injuries ISO RGD:3764 D RGD:9068941 20200609 RGD PMID:11879809|REF_RGD_ID:2325002 11993636 SSTR4 somatostatin receptor 4 gene DOID:9007821 Glucagonoma ISO RGD:735550 D RGD:9068941 20200609 RGD PMID:8132773|REF_RGD_ID:2324994 11993641 RAB3A RAB3A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:735498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11993641 RAB3A RAB3A, member RAS oncogene family gene DOID:9005834 Ependymomas ISO RGD:735498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075792 11993641 RAB3A RAB3A, member RAS oncogene family gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:735498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11993654 LDLRAD1 low density lipoprotein receptor class A domain containing 1 gene DOID:630 genetic disease ISO RGD:1603477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11993673 TMEM258 transmembrane protein 258 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1351820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11993673 TMEM258 transmembrane protein 258 gene DOID:1059 intellectual disability ISO RGD:1351820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11993673 TMEM258 transmembrane protein 258 gene DOID:630 genetic disease ISO RGD:1351820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11993681 GPRIN3 GPRIN family member 3 gene DOID:630 genetic disease ISO RGD:1604710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11993681 GPRIN3 GPRIN family member 3 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1604710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 11993690 CREBBP CREB binding protein gene DOID:0050873 follicular lymphoma ISO RGD:619552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 11993690 CREBBP CREB binding protein gene DOID:0050902 medulloblastoma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 11993690 CREBBP CREB binding protein gene DOID:0050908 myelodysplastic syndrome ISO RGD:619553 D RGD:9068941 20220825 MouseDO OMIM:614286 11993690 CREBBP CREB binding protein gene DOID:0060041 autism spectrum disorder ISO RGD:619553 D RGD:9068941 20220825 MouseDO 11993690 CREBBP CREB binding protein gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:619552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 11993690 CREBBP CREB binding protein gene DOID:0080202 adenoid cystic carcinoma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 11993690 CREBBP CREB binding protein gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:619552 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11993690 CREBBP CREB binding protein gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 11993690 CREBBP CREB binding protein gene DOID:10487 Hirschsprung's disease ISO RGD:619552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868|PMID:28492532 11993690 CREBBP CREB binding protein gene DOID:1059 intellectual disability ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:12566391|PMID:16359492|PMID:18414213|PMID:18792986|PMID:20684013|PMID:24088041|PMID:25388907|PMID:25741868|PMID:26633545|PMID:27311832|PMID:28492532|PMID:29460469 11993690 CREBBP CREB binding protein gene DOID:10591 pre-eclampsia ISO RGD:619552 D RGD:9068941 20220915 RGD mRNA:decreased expression:placenta (human) PMID:33625689|REF_RGD_ID:153350159 11993690 CREBBP CREB binding protein gene DOID:10652 Alzheimer's disease treatment ISO RGD:619553 D RGD:9068941 20200609 RGD PMID:21149712|REF_RGD_ID:10059608 11993690 CREBBP CREB binding protein gene DOID:10652 Alzheimer's disease treatment ISO RGD:619553 D RGD:9068941 20200609 RGD protein:increased phosphorylation:hippocampus: PMID:17760871|REF_RGD_ID:10059609 11993690 CREBBP CREB binding protein gene DOID:11054 urinary bladder cancer ISO RGD:619552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 11993690 CREBBP CREB binding protein gene DOID:12118 pulmonary hemosiderosis ISO RGD:619552 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Idiopathic pulmonary hemosiderosis PMID:25741868 11993690 CREBBP CREB binding protein gene DOID:12858 Huntington's disease ISO RGD:619552 D RGD:9068941 20200609 RGD PMID:11264541|REF_RGD_ID:13432093 11993690 CREBBP CREB binding protein gene DOID:12858 Huntington's disease ISO RGD:619553 D RGD:9068941 20200609 RGD PMID:11264541|REF_RGD_ID:13432093 11993690 CREBBP CREB binding protein gene DOID:12858 Huntington's disease disease_progression ISO RGD:619553 D RGD:9068941 20200609 RGD PMID:20448484|REF_RGD_ID:13432094 11993690 CREBBP CREB binding protein gene DOID:12858 Huntington's disease treatment ISO RGD:619553 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:19291221|REF_RGD_ID:10059583 11993690 CREBBP CREB binding protein gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:619552 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868 11993690 CREBBP CREB binding protein gene DOID:1682 congenital heart disease ISO RGD:619552 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 11993690 CREBBP CREB binding protein gene DOID:1686 glaucoma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma PMID:25741868 11993690 CREBBP CREB binding protein gene DOID:1749 squamous cell carcinoma ISO RGD:619552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 11993690 CREBBP CREB binding protein gene DOID:1826 epilepsy ISO RGD:619552 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:28492532 11993690 CREBBP CREB binding protein gene DOID:1827 idiopathic generalized epilepsy ISO RGD:619552 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11993690 CREBBP CREB binding protein gene DOID:1882 atrial heart septal defect ISO RGD:619552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868|PMID:28492532|PMID:29460469|PMID:30755392 11993690 CREBBP CREB binding protein gene DOID:1909 melanoma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 11993690 CREBBP CREB binding protein gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:619552 D RGD:7240710 20180130 OMIM 11993690 CREBBP CREB binding protein gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:619552 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:11331617|PMID:12070251|PMID:12114483|PMID:12566391|PMID:14974086|PMID:15706485|PMID:16021471|PMID:16199547|PMID:16359492|PMID:16980541|PMID:17052327|PMID:17855048|PMID:18414213|PMID:18792986|PMID:20583168|PMID:20684013|PMID:21390126|PMID:21680795|PMID:21796119|PMID:22591219|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:24088041|PMID:24728327|PMID:25388907|PMID:25599811|PMID:25640679|PMID:25741868|PMID:25741869|PMID:25805166|PMID:26087898|PMID:26486927|PMID:26619011|PMID:26633545|PMID:27257017|PMID:27257180|PMID:27311832|PMID:28492532|PMID:28523540|PMID:28707430|PMID:28970362|PMID:29460469|PMID:29551561|PMID:33560380|PMID:7630403|PMID:8967953 11993690 CREBBP CREB binding protein gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:619552 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 PMID:11331617|PMID:12070251|PMID:12114483|PMID:12566391|PMID:14974086|PMID:15706485|PMID:16021471|PMID:16199547|PMID:16359492|PMID:16980541|PMID:17052327|PMID:17855048|PMID:18414213|PMID:18792986|PMID:20583168|PMID:20684013|PMID:21390126|PMID:21680795|PMID:21796119|PMID:22591219|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:24088041|PMID:24728327|PMID:25388907|PMID:25599811|PMID:25640679|PMID:25741868|PMID:25741869|PMID:25805166|PMID:26087898|PMID:26486927|PMID:26619011|PMID:26633545|PMID:27257017|PMID:27257180|PMID:27311832|PMID:28492532|PMID:28523540|PMID:28707430|PMID:28970362|PMID:29460469|PMID:29551561|PMID:32170002|PMID:32827181|PMID:33560380|PMID:7630403|PMID:8967953 11993690 CREBBP CREB binding protein gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:619552 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:11331617|PMID:12070251|PMID:12114483|PMID:12566391|PMID:14974086|PMID:15706485|PMID:16021471|PMID:16199547|PMID:16359492|PMID:16980541|PMID:17052327|PMID:17576681|PMID:17855048|PMID:17942008|PMID:18414213|PMID:18688873|PMID:18792986|PMID:19833603|PMID:19852432|PMID:20358623|PMID:20583168|PMID:20684013|PMID:20689175|PMID:21302340|PMID:21390126|PMID:21680795|PMID:21796119|PMID:21932317|PMID:21984751|PMID:22307725|PMID:22591219|PMID:22664659|PMID:22832583|PMID:23063576|PMID:23334668|PMID:23685749|PMID:23778141|PMID:24088041|PMID:24728327|PMID:25108505|PMID:25388907|PMID:25599811|PMID:25640679|PMID:25741868|PMID:25741869|PMID:25805166|PMID:26087898|PMID:26486927|PMID:26619011|PMID:26633545|PMID:26788536|PMID:26956253|PMID:27257017|PMID:27257180|PMID:27311832|PMID:28492532|PMID:28523540|PMID:28970362|PMID:29132461|PMID:29460469|PMID:29551561|PMID:30587507|PMID:30755392|PMID:31566936|PMID:32170002|PMID:32594341|PMID:32827181|PMID:33560380|PMID:33747050|PMID:7630403|PMID:8967953|PMID:9536098 11993690 CREBBP CREB binding protein gene DOID:2671 transitional cell carcinoma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 11993690 CREBBP CREB binding protein gene DOID:3068 glioblastoma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 11993690 CREBBP CREB binding protein gene DOID:3307 teratoma ISO RGD:619552 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 11993690 CREBBP CREB binding protein gene DOID:3717 gastric adenocarcinoma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 11993690 CREBBP CREB binding protein gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:619552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 11993690 CREBBP CREB binding protein gene DOID:3907 lung squamous cell carcinoma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 11993690 CREBBP CREB binding protein gene DOID:3910 lung adenocarcinoma ISO RGD:619552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 11993690 CREBBP CREB binding protein gene DOID:5409 lung small cell carcinoma ISO RGD:619552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941188 11993690 CREBBP CREB binding protein gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 11993690 CREBBP CREB binding protein gene DOID:630 genetic disease ISO RGD:619552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11023789|PMID:12070251|PMID:12114483|PMID:12566391|PMID:16021471|PMID:16359492|PMID:17576681|PMID:18414213|PMID:18792986|PMID:19651603|PMID:20684013|PMID:20689175|PMID:22591219|PMID:23651431|PMID:23934153|PMID:24521098|PMID:24728327|PMID:25388907|PMID:25741868|PMID:25741869|PMID:28492532|PMID:34516402|PMID:9215639|PMID:9536098 11993690 CREBBP CREB binding protein gene DOID:684 hepatocellular carcinoma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: LIVER CELL CARCINOMA PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 11993690 CREBBP CREB binding protein gene DOID:8541 Sezary's disease ISO RGD:619552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 11993690 CREBBP CREB binding protein gene DOID:8923 skin melanoma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 11993690 CREBBP CREB binding protein gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:619552 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 11993690 CREBBP CREB binding protein gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:619552 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Corpus callosum agenesis PMID:12070251|PMID:12114483|PMID:16359492|PMID:17052327|PMID:20689175|PMID:25741868|PMID:32170002|PMID:32827181 11993690 CREBBP CREB binding protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:619552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378487|PMID:25735316 11993690 CREBBP CREB binding protein gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 11993690 CREBBP CREB binding protein gene DOID:9003748 Thumb Deformity ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thumb deformity PMID:25741868 11993690 CREBBP CREB binding protein gene DOID:9003837 Au-Kline Syndrome ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki-like syndrome PMID:25741868 11993690 CREBBP CREB binding protein gene DOID:9004286 Hirschsprung Disease 1 ISO RGD:619552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hirschsprung disease 1 PMID:25741868|PMID:28492532 11993690 CREBBP CREB binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11993690 CREBBP CREB binding protein gene DOID:9006534 Nervous System Malformations ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:12566391|PMID:16359492|PMID:18414213|PMID:18792986|PMID:25388907|PMID:25741868 11993690 CREBBP CREB binding protein gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11993690 CREBBP CREB binding protein gene DOID:9006827 Lung Reperfusion Injury ameliorates ISO RGD:619553 D RGD:9068941 20220915 RGD PMID:34238924|REF_RGD_ID:153350155 11993690 CREBBP CREB binding protein gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2401 D RGD:9068941 20220915 RGD PMID:24338162|REF_RGD_ID:153352322 11993690 CREBBP CREB binding protein gene DOID:9008086 Developmental Disabilities ISO RGD:619552 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 11993690 CREBBP CREB binding protein gene DOID:9008443 Colorectal Neoplasms ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 11993690 CREBBP CREB binding protein gene DOID:9008706 Menke-Hennekam Syndrome ISO RGD:619552 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Menke-Hennekam syndrome PMID:25741868|PMID:27311832|PMID:29460469|PMID:30892814 11993690 CREBBP CREB binding protein gene DOID:9008974 Menke-Hennekam Syndrome 1 ISO RGD:619552 D RGD:7240710 20190315 OMIM 11993690 CREBBP CREB binding protein gene DOID:9008974 Menke-Hennekam Syndrome 1 ISO RGD:619552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Menke-Hennekam syndrome 1 PMID:11023789|PMID:12114483|PMID:12566391|PMID:16359492|PMID:17576681|PMID:18414213|PMID:18792986|PMID:19651603|PMID:24088041|PMID:24728327|PMID:25388907|PMID:25741868|PMID:25741869|PMID:26633545|PMID:27311832|PMID:28492532|PMID:29460469|PMID:30737887|PMID:30892814|PMID:32827181|PMID:9215639|PMID:9536098 11993690 CREBBP CREB binding protein gene DOID:9119 acute myeloid leukemia ISO RGD:619552 D RGD:9068941 20200609 RGD DNA:translocations:intron:IVS2 (human) PMID:12461753|REF_RGD_ID:734819 11993690 CREBBP CREB binding protein gene DOID:9119 acute myeloid leukemia ISO RGD:619553 D RGD:9068941 20220825 MouseDO OMIM:601626 11993690 CREBBP CREB binding protein gene DOID:9538 multiple myeloma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11993690 CREBBP CREB binding protein gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:619552 D RGD:9068941 20200609 RGD DNA:mutations:multiple PMID:25917266|REF_RGD_ID:11060149 11993734 ERP44 endoplasmic reticulum protein 44 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1319370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 11993734 ERP44 endoplasmic reticulum protein 44 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1319370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 11993734 ERP44 endoplasmic reticulum protein 44 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1319370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 11993734 ERP44 endoplasmic reticulum protein 44 gene DOID:0111113 nephronophthisis 2 ISO RGD:1319370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile nephronophthisis PMID:25741868 11993734 ERP44 endoplasmic reticulum protein 44 gene DOID:1059 intellectual disability ISO RGD:1319370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11993734 ERP44 endoplasmic reticulum protein 44 gene DOID:12712 nephronophthisis ISO RGD:1319370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 11993734 ERP44 endoplasmic reticulum protein 44 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1319370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 11993734 ERP44 endoplasmic reticulum protein 44 gene DOID:630 genetic disease ISO RGD:1319370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11993734 ERP44 endoplasmic reticulum protein 44 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11993750 SLC15A4 solute carrier family 15 member 4 gene DOID:630 genetic disease ISO RGD:733038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11993750 SLC15A4 solute carrier family 15 member 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:733038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838193 11993768 MACF1 microtubule actin crosslinking factor 1 gene DOID:0050453 lissencephaly ISO RGD:1352225 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:25741868|PMID:30471716 11993768 MACF1 microtubule actin crosslinking factor 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1352225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 11993768 MACF1 microtubule actin crosslinking factor 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1352225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11993768 MACF1 microtubule actin crosslinking factor 1 gene DOID:0112228 lissencephaly 9 with complex brainstem malformation ISO RGD:1352225 D RGD:7240710 20190315 OMIM 11993768 MACF1 microtubule actin crosslinking factor 1 gene DOID:0112228 lissencephaly 9 with complex brainstem malformation ISO RGD:1352225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lissencephaly 9 with complex brainstem malformation | ClinVar Annotator: match by term: Spectraplakinopathy type I | ClinVar Annotator: match by term: lissencephaly with brainstem hypoplasia PMID:24507697|PMID:25741868|PMID:28492532|PMID:30471716|PMID:33600046 11993768 MACF1 microtubule actin crosslinking factor 1 gene DOID:10283 prostate cancer ISO RGD:1352225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11993768 MACF1 microtubule actin crosslinking factor 1 gene DOID:1059 intellectual disability ISO RGD:1352225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11993768 MACF1 microtubule actin crosslinking factor 1 gene DOID:1826 epilepsy ISO RGD:1352225 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11993768 MACF1 microtubule actin crosslinking factor 1 gene DOID:630 genetic disease ISO RGD:1352225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11993768 MACF1 microtubule actin crosslinking factor 1 gene DOID:9004125 Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas ISO RGD:1352225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Facial hemangioma PMID:31474318 11993768 MACF1 microtubule actin crosslinking factor 1 gene DOID:9007661 Dwarfism ISO RGD:1352225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11993768 MACF1 microtubule actin crosslinking factor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1352225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 11993880 ITGBL1 integrin subunit beta like 1 gene DOID:0050976 spinocerebellar ataxia type 27 ISO RGD:1348863 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 27 PMID:25741868 11993880 ITGBL1 integrin subunit beta like 1 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1348863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 11993880 ITGBL1 integrin subunit beta like 1 gene DOID:14701 propionic acidemia ISO RGD:1348863 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 11993880 ITGBL1 integrin subunit beta like 1 gene DOID:630 genetic disease ISO RGD:1348863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11993880 ITGBL1 integrin subunit beta like 1 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1348863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11993901 HAUS6 HAUS augmin like complex subunit 6 gene DOID:630 genetic disease ISO RGD:1320176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11993901 HAUS6 HAUS augmin like complex subunit 6 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1320176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043753 11993901 HAUS6 HAUS augmin like complex subunit 6 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1320176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11993923 RHOBTB1 Rho related BTB domain containing 1 gene DOID:630 genetic disease ISO RGD:1315735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11993923 RHOBTB1 Rho related BTB domain containing 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1315735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11993972 ZNF568 zinc finger protein 568 gene DOID:630 genetic disease ISO RGD:1342686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994012 POLR2G RNA polymerase II subunit G gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:733856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11994012 POLR2G RNA polymerase II subunit G gene DOID:1059 intellectual disability ISO RGD:733856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11994012 POLR2G RNA polymerase II subunit G gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733856 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11994024 LOC100968789 olfactory receptor 6B3 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1350028 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11994024 LOC100968789 olfactory receptor 6B3 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1350028 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11994024 LOC100968789 olfactory receptor 6B3 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1350028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 11994024 LOC100968789 olfactory receptor 6B3 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1350028 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11994024 LOC100968789 olfactory receptor 6B3 gene DOID:1059 intellectual disability ISO RGD:1350028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11994024 LOC100968789 olfactory receptor 6B3 gene DOID:630 genetic disease ISO RGD:1350028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994024 LOC100968789 olfactory receptor 6B3 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1350028 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11994027 ZDHHC2 zinc finger DHHC-type palmitoyltransferase 2 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:736613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 11994027 ZDHHC2 zinc finger DHHC-type palmitoyltransferase 2 gene DOID:630 genetic disease ISO RGD:736613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994027 ZDHHC2 zinc finger DHHC-type palmitoyltransferase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11994027 ZDHHC2 zinc finger DHHC-type palmitoyltransferase 2 gene DOID:9004657 Weight Gain ISO RGD:736613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11994027 ZDHHC2 zinc finger DHHC-type palmitoyltransferase 2 gene DOID:9007188 Liver Neoplasms ISO RGD:736613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25058030|PMID:28108177 11994049 RPS14 ribosomal protein S14 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731753 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11994049 RPS14 ribosomal protein S14 gene DOID:0090016 chromosome 5q deletion syndrome ISO RGD:731753 D RGD:7240710 20180130 OMIM 11994049 RPS14 ribosomal protein S14 gene DOID:1227 neutropenia ISO RGD:731753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 11994049 RPS14 ribosomal protein S14 gene DOID:305 carcinoma ISO RGD:731753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11994049 RPS14 ribosomal protein S14 gene DOID:630 genetic disease ISO RGD:731753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994049 RPS14 ribosomal protein S14 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11994049 RPS14 ribosomal protein S14 gene DOID:9002669 Hypoxia ISO RGD:731753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18258771 11994049 RPS14 ribosomal protein S14 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 11994049 RPS14 ribosomal protein S14 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731753 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11994063 DPP9 dipeptidyl peptidase 9 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1350502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23583980 11994063 DPP9 dipeptidyl peptidase 9 gene DOID:630 genetic disease ISO RGD:1350502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994063 DPP9 dipeptidyl peptidase 9 gene DOID:9008764 Immunodeficiency 111 ISO RGD:1350502 D RGD:7240710 20230505 OMIM 11994063 DPP9 dipeptidyl peptidase 9 gene DOID:9008764 Immunodeficiency 111 ISO RGD:1350502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hatipoglu immunodeficiency syndrome PMID:36112693 11994097 PGC progastricsin gene DOID:0050444 infantile Refsum disease ISO RGD:735292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11994097 PGC progastricsin gene DOID:630 genetic disease ISO RGD:735292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994097 PGC progastricsin gene DOID:905 Zellweger syndrome ISO RGD:735292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11994121 MEX3D mex-3 RNA binding family member D gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1321562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 11994121 MEX3D mex-3 RNA binding family member D gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1321562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 11994121 MEX3D mex-3 RNA binding family member D gene DOID:5339 cyclic hematopoiesis ISO RGD:1321562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11994121 MEX3D mex-3 RNA binding family member D gene DOID:630 genetic disease ISO RGD:1321562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994121 MEX3D mex-3 RNA binding family member D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11994129 NPS neuropeptide S gene DOID:0060390 distal 10q deletion syndrome ISO RGD:2291750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11994129 NPS neuropeptide S gene DOID:2030 anxiety disorder ISO RGD:2291750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19339610|PMID:21466221 11994129 NPS neuropeptide S gene DOID:2560 morphine dependence ISO RGD:2324597 D RGD:9068941 20200609 RGD PMID:23684726|REF_RGD_ID:9831198 11994129 NPS neuropeptide S gene DOID:630 genetic disease ISO RGD:2291750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994129 NPS neuropeptide S gene DOID:9000499 Alcoholic Intoxication ISO RGD:2324597 D RGD:9068941 20200609 RGD PMID:19860802|REF_RGD_ID:9831199 11994129 NPS neuropeptide S gene DOID:9002362 Hyperkinesis ISO RGD:2291750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19339610 11994129 NPS neuropeptide S gene DOID:9005632 Cocaine-Related Disorders ISO RGD:2291750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19339610|PMID:20974945|PMID:21466221 11994136 SLC1A3 solute carrier family 1 member 3 gene DOID:0050952 spastic ataxia ISO RGD:732126 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:26467025|PMID:28492532 11994136 SLC1A3 solute carrier family 1 member 3 gene DOID:0050994 episodic ataxia type 6 ISO RGD:732126 D RGD:7240710 20180130 OMIM 11994136 SLC1A3 solute carrier family 1 member 3 gene DOID:0050994 episodic ataxia type 6 ISO RGD:732126 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 6 PMID:16116111|PMID:19139306|PMID:23107647|PMID:24214974|PMID:25497598|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28472652|PMID:28492532|PMID:29062094|PMID:32741053 11994136 SLC1A3 solute carrier family 1 member 3 gene DOID:0080600 COVID-19 ISO RGD:732126 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11994136 SLC1A3 solute carrier family 1 member 3 gene DOID:12849 autistic disorder ISO RGD:732126 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11706102 11994136 SLC1A3 solute carrier family 1 member 3 gene DOID:13544 low tension glaucoma ISO RGD:736549 D RGD:9068941 20220825 MouseDO OMIM:606657 11994136 SLC1A3 solute carrier family 1 member 3 gene DOID:1826 epilepsy ISO RGD:732126 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19853022 11994136 SLC1A3 solute carrier family 1 member 3 gene DOID:630 genetic disease ISO RGD:732126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 11994136 SLC1A3 solute carrier family 1 member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11994136 SLC1A3 solute carrier family 1 member 3 gene DOID:9008086 Developmental Disabilities ISO RGD:732126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11994136 SLC1A3 solute carrier family 1 member 3 gene DOID:963 episodic ataxia ISO RGD:732126 D RGD:8554872 20220628 ClinVar ClinVar Annotator: match by term: Hereditary episodic ataxia 11994156 FBXO2 F-box protein 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11994156 FBXO2 F-box protein 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:732900 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11994156 FBXO2 F-box protein 2 gene DOID:630 genetic disease ISO RGD:732900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994156 FBXO2 F-box protein 2 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:732900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 11994166 ERICH4 glutamate rich 4 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:2299179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11994166 ERICH4 glutamate rich 4 gene DOID:1342 congenital hypoplastic anemia ISO RGD:2299179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11994166 ERICH4 glutamate rich 4 gene DOID:2340 craniosynostosis ISO RGD:2299179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11994166 ERICH4 glutamate rich 4 gene DOID:630 genetic disease ISO RGD:2299179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994166 ERICH4 glutamate rich 4 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:2299179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11994166 ERICH4 glutamate rich 4 gene DOID:9269 maple syrup urine disease ISO RGD:2299179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11994172 LRRC49 leucine rich repeat containing 49 gene DOID:2717 Bloom syndrome ISO RGD:1606554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11994172 LRRC49 leucine rich repeat containing 49 gene DOID:630 genetic disease ISO RGD:1606554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994172 LRRC49 leucine rich repeat containing 49 gene DOID:9256 colorectal cancer ISO RGD:1606554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11994192 HIVEP2 HIVEP zinc finger 2 gene DOID:0060041 autism spectrum disorder ISO RGD:734342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11994192 HIVEP2 HIVEP zinc finger 2 gene DOID:0060812 syndromic X-linked intellectual disability Siderius type ISO RGD:734342 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Siderius type PMID:25741868 11994192 HIVEP2 HIVEP zinc finger 2 gene DOID:0060825 Christianson syndrome ISO RGD:734342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome-like PMID:25741868 11994192 HIVEP2 HIVEP zinc finger 2 gene DOID:0070073 autosomal dominant intellectual developmental disorder 43 ISO RGD:734342 D RGD:7240710 20190315 OMIM 11994192 HIVEP2 HIVEP zinc finger 2 gene DOID:0070073 autosomal dominant intellectual developmental disorder 43 ISO RGD:734342 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 43 PMID:23020937|PMID:24033266|PMID:25741868|PMID:26153216|PMID:27003583|PMID:28492532|PMID:29758562 11994192 HIVEP2 HIVEP zinc finger 2 gene DOID:0080436 developmental and epileptic encephalopathy 4 ISO RGD:734342 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4 PMID:25741868 11994192 HIVEP2 HIVEP zinc finger 2 gene DOID:1059 intellectual disability ISO RGD:734342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11994192 HIVEP2 HIVEP zinc finger 2 gene DOID:5419 schizophrenia ISO RGD:62280 D RGD:9068941 20220825 MouseDO OMIM:181500 11994192 HIVEP2 HIVEP zinc finger 2 gene DOID:630 genetic disease ISO RGD:734342 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12527760|PMID:1567844|PMID:22294689|PMID:23020937|PMID:25741868|PMID:26153216|PMID:27003583|PMID:28492532 11994192 HIVEP2 HIVEP zinc finger 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 11994192 HIVEP2 HIVEP zinc finger 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:734342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11994205 HOXC11 homeobox C11 gene DOID:630 genetic disease ISO RGD:1313485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994205 HOXC11 homeobox C11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11994211 FLCN folliculin gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1604509 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:12204536|PMID:12471204|PMID:15805188|PMID:15852235|PMID:16199547|PMID:17028174|PMID:17496196|PMID:17576681|PMID:18234728|PMID:18505456|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21538689|PMID:21937013|PMID:22977732|PMID:23050938|PMID:23264078|PMID:23757202|PMID:23784378|PMID:24393238|PMID:24728327|PMID:25326637|PMID:25401301|PMID:25519458|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27257988|PMID:27355777|PMID:27652079|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28558743|PMID:28839995|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30548481|PMID:31615547|PMID:31958439|PMID:32091409|PMID:33137092|PMID:34008892|PMID:9536098 11994211 FLCN folliculin gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1604509 D RGD:7240710 20180130 OMIM 11994211 FLCN folliculin gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1604509 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome | ClinVar Annotator: match by term: Birt-Hogg-Dubé Syndrome | ClinVar Annotator: match by term: Fibrofolliculomas with trichodiscomas and acrochordons | ClinVar Annotator: match by term: Hornstein-Knickenberg syndrome PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19801896|PMID:19802896|PMID:19850877|PMID:20188345|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21412933|PMID:21506000|PMID:21520333|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22382802|PMID:22441547|PMID:22571569|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23052100|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23414156|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24297131|PMID:24346394|PMID:24393238|PMID:24728327|PMID:24910976|PMID:25059020|PMID:25126726|PMID:25302759|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25537564|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25807935|PMID:25827758|PMID:26028485|PMID:26334087|PMID:26342594|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26689913|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27642565|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27905298|PMID:27906882|PMID:28007907|PMID:28151982|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28724667|PMID:28785590|PMID:28805452|PMID:28839995|PMID:28869776|PMID:28873162|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29720200|PMID:30360018|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:30923304|PMID:31266032|PMID:31615547|PMID:31958439|PMID:32091409|PMID:33137092|PMID:33482948|PMID:33927747|PMID:34008892|PMID:34067022|PMID:34229741|PMID:34604083|PMID:35477461|PMID:35495172|PMID:35691222|PMID:9536098 11994211 FLCN folliculin gene DOID:0050777 Joubert syndrome ISO RGD:1604509 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 11994211 FLCN folliculin gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1604509 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Duplication 17p11.2 syndrome | ClinVar Annotator: match by term: Potocki-Lupski syndrome | ClinVar Annotator: match by term: Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) PMID:12204536|PMID:12471204|PMID:15805188|PMID:15852235|PMID:16199547|PMID:17028174|PMID:17496196|PMID:17576681|PMID:18234728|PMID:18505456|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21538689|PMID:21937013|PMID:22977732|PMID:23050938|PMID:23264078|PMID:23757202|PMID:23784378|PMID:24393238|PMID:24728327|PMID:25326637|PMID:25401301|PMID:25519458|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27257988|PMID:27355777|PMID:27652079|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28558743|PMID:28837307|PMID:28839995|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30548481|PMID:31615547|PMID:31958439|PMID:32091409|PMID:33137092|PMID:34008892|PMID:9536098 11994211 FLCN folliculin gene DOID:0080218 primary spontaneous pneumothorax ISO RGD:1604509 D RGD:7240710 20180523 OMIM 11994211 FLCN folliculin gene DOID:0080218 primary spontaneous pneumothorax ISO RGD:1604509 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pneumothorax, primary spontaneous PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:16199547|PMID:17028174|PMID:17496196|PMID:17576681|PMID:18234728|PMID:18505456|PMID:18579543|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23264078|PMID:23757202|PMID:23784378|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24393238|PMID:24728327|PMID:25126726|PMID:25326637|PMID:25401301|PMID:25519458|PMID:25525159|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27257988|PMID:27355777|PMID:27652079|PMID:27734835|PMID:27905298|PMID:28007907|PMID:28492532|PMID:28558743|PMID:28839995|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30548481|PMID:31615547|PMID:31958439|PMID:32091409|PMID:33137092|PMID:34008892|PMID:9536098 11994211 FLCN folliculin gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1604509 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 11994211 FLCN folliculin gene DOID:12849 autistic disorder ISO RGD:1604509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11994211 FLCN folliculin gene DOID:1520 colon carcinoma ISO RGD:1604509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:12843323|PMID:15805188|PMID:15852235|PMID:16199547|PMID:18234728|PMID:19457309|PMID:19802896|PMID:20618353|PMID:21937013|PMID:22703879|PMID:23050938|PMID:24033266|PMID:24393238|PMID:24728327|PMID:25594584|PMID:25741868|PMID:28492532|PMID:28558743 11994211 FLCN folliculin gene DOID:1520 colon carcinoma ISO RGD:1604509 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colon carcinoma PMID:12843323|PMID:15805188|PMID:15852235|PMID:16199547|PMID:18234728|PMID:19116017|PMID:19457309|PMID:19562744|PMID:20618353|PMID:21937013|PMID:22703879|PMID:23050938|PMID:24033266|PMID:24393238|PMID:24728327|PMID:25594584|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28558743 11994211 FLCN folliculin gene DOID:1673 pneumothorax ISO RGD:1604509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spontaneous pneumothorax PMID:25741868|PMID:28492532 11994211 FLCN folliculin gene DOID:2394 ovarian cancer ISO RGD:1604509 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:28492532|PMID:30548481 11994211 FLCN folliculin gene DOID:4450 renal cell carcinoma ISO RGD:1604509 D RGD:7240710 20180130 OMIM 11994211 FLCN folliculin gene DOID:4450 renal cell carcinoma treatment ISO RGD:735088 D RGD:9068941 20200609 RGD PMID:16369488|REF_RGD_ID:13605606 11994211 FLCN folliculin gene DOID:4851 pilocytic astrocytoma ISO RGD:1604509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pilocytic astrocytoma PMID:15852235|PMID:16199547|PMID:25741868|PMID:28492532 11994211 FLCN folliculin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1604509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11994211 FLCN folliculin gene DOID:6245 renal oncocytoma ISO RGD:1604509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12204536 11994211 FLCN folliculin gene DOID:630 genetic disease ISO RGD:1604509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994211 FLCN folliculin gene DOID:687 hepatoblastoma ISO RGD:1604509 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:28492532|PMID:35495172 11994211 FLCN folliculin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604509 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19785621|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25126726|PMID:25326637|PMID:25519458|PMID:25594584|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26334087|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:27220747|PMID:27257988|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:28007907|PMID:28151982|PMID:28166811|PMID:28202063|PMID:28492532|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28869776|PMID:28873162|PMID:28891800|PMID:28944238|PMID:28970150|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30360018|PMID:30580288|PMID:33137092|PMID:33482948|PMID:34008892|PMID:34067022|PMID:9536098 11994211 FLCN folliculin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604509 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25059020|PMID:25126726|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26334087|PMID:26387484|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:28007907|PMID:28151982|PMID:28166811|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28873162|PMID:28891800|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30360018|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:31615547|PMID:31958439|PMID:32091409|PMID:32257251|PMID:33137092|PMID:33482948|PMID:34008892|PMID:34067022|PMID:34229741|PMID:35495172|PMID:35691222|PMID:9536098 11994211 FLCN folliculin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604509 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22571569|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25059020|PMID:25126726|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26387484|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:27906882|PMID:28007907|PMID:28151982|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28873162|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30360018|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:31266032|PMID:31615547|PMID:31958439|PMID:32091409|PMID:32257251|PMID:33137092|PMID:33482948|PMID:34008892|PMID:34067022|PMID:34229741|PMID:35477461|PMID:35495172|PMID:35691222|PMID:9536098 11994211 FLCN folliculin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604509 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19802896|PMID:19850877|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22571569|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25059020|PMID:25126726|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26387484|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27642565|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:27906882|PMID:28007907|PMID:28151982|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28869776|PMID:28873162|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30360018|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:31266032|PMID:31615547|PMID:31958439|PMID:32091409|PMID:32257251|PMID:33137092|PMID:33482948|PMID:34008892|PMID:34067022|PMID:34229741|PMID:34604083|PMID:35477461|PMID:35495172|PMID:35691222|PMID:9536098 11994211 FLCN folliculin gene DOID:9007188 Liver Neoplasms ISO RGD:1604509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11994211 FLCN folliculin gene DOID:9007253 Hamartoma ISO RGD:1604509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12204536|PMID:27072130 11994211 FLCN folliculin gene DOID:9007583 Cysts ISO RGD:1604509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27072130 11994211 FLCN folliculin gene DOID:9008443 Colorectal Neoplasms ISO RGD:1604509 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 11994211 FLCN folliculin gene DOID:9256 colorectal cancer ISO RGD:1604509 D RGD:7240710 20200226 OMIM 11994211 FLCN folliculin gene DOID:9256 colorectal cancer ISO RGD:1604509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12204536|PMID:12471204|PMID:12843323|PMID:15852235|PMID:17496196|PMID:18505456|PMID:18794106|PMID:19562744|PMID:20522427|PMID:21538689|PMID:22703879|PMID:23155228|PMID:23217326|PMID:23757202|PMID:24033266|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26028485|PMID:26659639|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28492532|PMID:29357828|PMID:29548312|PMID:30360018|PMID:34008892 11994211 FLCN folliculin gene DOID:9256 colorectal cancer ISO RGD:1604509 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12204536|PMID:12471204|PMID:12843323|PMID:15852235|PMID:17496196|PMID:18505456|PMID:18794106|PMID:19562744|PMID:20522427|PMID:21538689|PMID:22703879|PMID:23155228|PMID:23217326|PMID:23757202|PMID:24033266|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26028485|PMID:26659639|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:33137092|PMID:34008892|PMID:34067022 11994211 FLCN folliculin gene DOID:9256 colorectal cancer ISO RGD:1604509 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12204536|PMID:12471204|PMID:12843323|PMID:15852235|PMID:17496196|PMID:18505456|PMID:18794106|PMID:19562744|PMID:20301695|PMID:20522427|PMID:21538689|PMID:22703879|PMID:23155228|PMID:23217326|PMID:23757202|PMID:24033266|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26028485|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:33137092|PMID:34008892|PMID:34067022 11994211 FLCN folliculin gene DOID:9256 colorectal cancer ISO RGD:1604509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12204536|PMID:12471204|PMID:12843323|PMID:15852235|PMID:16199547|PMID:17028174|PMID:17496196|PMID:17576681|PMID:18234728|PMID:18505456|PMID:18794106|PMID:19116017|PMID:19562744|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:21538689|PMID:22703879|PMID:22977732|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23757202|PMID:23784378|PMID:24033266|PMID:24055113|PMID:24728327|PMID:25326637|PMID:25401301|PMID:25519458|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27257988|PMID:27355777|PMID:27652079|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28558743|PMID:28839995|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:31615547|PMID:31958439|PMID:32091409|PMID:33137092|PMID:34008892|PMID:34067022|PMID:35691222|PMID:9536098 11994211 FLCN folliculin gene DOID:9256 colorectal cancer ISO RGD:1604509 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12204536|PMID:12471204|PMID:12843323|PMID:15852235|PMID:16199547|PMID:17028174|PMID:17496196|PMID:17576681|PMID:18234728|PMID:18505456|PMID:18794106|PMID:19116017|PMID:19562744|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:21538689|PMID:22703879|PMID:22977732|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23757202|PMID:23784378|PMID:24033266|PMID:24055113|PMID:24728327|PMID:25326637|PMID:25401301|PMID:25519458|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27257988|PMID:27355777|PMID:27652079|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28558743|PMID:28839995|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30548481|PMID:31615547|PMID:31958439|PMID:32091409|PMID:33137092|PMID:34008892|PMID:34067022|PMID:35691222|PMID:9536098 11994232 OTOGL otogelin like gene DOID:0110530 autosomal recessive nonsyndromic deafness 84B ISO RGD:1603526 D RGD:7240710 20180130 OMIM 11994232 OTOGL otogelin like gene DOID:0110530 autosomal recessive nonsyndromic deafness 84B ISO RGD:1603526 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 84b PMID:16199547|PMID:17576681|PMID:23122586|PMID:23850727|PMID:24033266|PMID:25719458|PMID:25741868|PMID:26969326|PMID:28492532|PMID:35802133|PMID:36633841|PMID:9536098 11994232 OTOGL otogelin like gene DOID:0111223 centronuclear myopathy 1 ISO RGD:1603526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 3 PMID:28492532 11994232 OTOGL otogelin like gene DOID:11372 megacolon ISO RGD:1603526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11994232 OTOGL otogelin like gene DOID:630 genetic disease ISO RGD:1603526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:23122586|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 11994232 OTOGL otogelin like gene DOID:9004538 Hearing Loss ISO RGD:1603526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:28492532|PMID:30311386 11994294 ARFGAP3 ADP ribosylation factor GTPase activating protein 3 gene DOID:1059 intellectual disability ISO RGD:1344539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11994294 ARFGAP3 ADP ribosylation factor GTPase activating protein 3 gene DOID:630 genetic disease ISO RGD:1344539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994294 ARFGAP3 ADP ribosylation factor GTPase activating protein 3 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1344539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 11994317 TRIM22 tripartite motif containing 22 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1347688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11994317 TRIM22 tripartite motif containing 22 gene DOID:630 genetic disease ISO RGD:1347688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994317 TRIM22 tripartite motif containing 22 gene DOID:9001488 Human Influenza ISO RGD:1347688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11994329 PPP1R36 protein phosphatase 1 regulatory subunit 36 gene DOID:630 genetic disease ISO RGD:1319175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994348 BCLAF3 BCLAF1 and THRAP3 family member 3 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1348660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11994348 BCLAF3 BCLAF1 and THRAP3 family member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11994348 BCLAF3 BCLAF1 and THRAP3 family member 3 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1348660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11994348 BCLAF3 BCLAF1 and THRAP3 family member 3 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1348660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11994348 BCLAF3 BCLAF1 and THRAP3 family member 3 gene DOID:12849 autistic disorder ISO RGD:1348660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11994348 BCLAF3 BCLAF1 and THRAP3 family member 3 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1348660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 11994348 BCLAF3 BCLAF1 and THRAP3 family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11994364 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:10763 hypertension ISO RGD:2846 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:11882579|REF_RGD_ID:1626447 11994364 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:731005 D RGD:9068941 20200609 RGD PMID:12556913|REF_RGD_ID:1358660 11994364 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:12849 autistic disorder ISO RGD:731005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19038234 11994364 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:12995 conduct disorder ISO RGD:731005 D RGD:9068941 20200609 RGD associated with Alcoholism PMID:14714219|REF_RGD_ID:1358661 11994364 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:2030 anxiety disorder ISO RGD:2846 D RGD:9068941 20200609 RGD PMID:12040062|REF_RGD_ID:625756 11994364 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:2468 psychotic disorder ISO RGD:731005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 11994364 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:326 ischemia ISO RGD:2846 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:12393100|REF_RGD_ID:1626445 11994364 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:630 genetic disease ISO RGD:731005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994364 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:670 amphetamine abuse ISO RGD:731005 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10780831 11994364 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:2846 D RGD:9068941 20200609 RGD PMID:17542534|REF_RGD_ID:1626451 11994364 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:9000641 Pain ISO RGD:2846 D RGD:9068941 20200609 RGD PMID:16165284|REF_RGD_ID:1626470 11994364 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:9001109 Anorexia ISO RGD:2846 D RGD:9068941 20200609 RGD associated with Sarcoma;protein:increased expression:hypothalamus PMID:15698923|REF_RGD_ID:1626473 11994364 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17509084|PMID:9603521 11994364 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:9006024 Hypotension ISO RGD:731005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9109356 11994364 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:10746 D RGD:9068941 20200609 RGD PMID:11739290|REF_RGD_ID:1626449 11994364 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:9008675 Dyskinesias ISO RGD:2846 D RGD:9068941 20200609 RGD PMID:17452372|REF_RGD_ID:1626453 11994364 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:9970 obesity ISO RGD:2846 D RGD:9068941 20200609 RGD protein:increase expression:arcuate nucleus PMID:10564740|REF_RGD_ID:1626450 11994369 SLC6A11 solute carrier family 6 member 11 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:732372 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 11994369 SLC6A11 solute carrier family 6 member 11 gene DOID:11832 visual epilepsy ISO RGD:628737 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:17408599|REF_RGD_ID:1643196 11994369 SLC6A11 solute carrier family 6 member 11 gene DOID:1909 melanoma ISO RGD:732372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 11994369 SLC6A11 solute carrier family 6 member 11 gene DOID:630 genetic disease ISO RGD:732372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994369 SLC6A11 solute carrier family 6 member 11 gene DOID:9004009 Reperfusion Injury ISO RGD:628737 D RGD:9068941 20200609 RGD PMID:13678673|REF_RGD_ID:1299345 11994369 SLC6A11 solute carrier family 6 member 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11994369 SLC6A11 solute carrier family 6 member 11 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:732372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 11994401 PPP4R3B protein phosphatase 4 regulatory subunit 3B gene DOID:630 genetic disease ISO RGD:1603387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994440 G3BP1 G3BP stress granule assembly factor 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604397 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11994440 G3BP1 G3BP stress granule assembly factor 1 gene DOID:3069 malignant astrocytoma ISO RGD:1604397 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:27106762 11994440 G3BP1 G3BP stress granule assembly factor 1 gene DOID:630 genetic disease ISO RGD:1604397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994440 G3BP1 G3BP stress granule assembly factor 1 gene DOID:9000918 Disease Progression ISO RGD:1604397 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:27106762 11994440 G3BP1 G3BP stress granule assembly factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 11994440 G3BP1 G3BP stress granule assembly factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604397 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11994484 BMP5 bone morphogenetic protein 5 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1314331 D RGD:9068941 20220825 MouseDO OMIM:224690 | OMIM:613800 | OMIM:613803 | OMIM:613804 | OMIM:613805 11994484 BMP5 bone morphogenetic protein 5 gene DOID:630 genetic disease ISO RGD:1314330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994500 ESRP2 epithelial splicing regulatory protein 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11994500 ESRP2 epithelial splicing regulatory protein 2 gene DOID:0080600 COVID-19 ISO RGD:1605047 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11994500 ESRP2 epithelial splicing regulatory protein 2 gene DOID:630 genetic disease ISO RGD:1605047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994500 ESRP2 epithelial splicing regulatory protein 2 gene DOID:9296 cleft lip ISO RGD:1605047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft lip with or without cleft palate PMID:29805042 11994520 LATS1 large tumor suppressor kinase 1 gene DOID:1788 peritoneal mesothelioma ISO RGD:1349703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant peritoneal mesothelioma 11994520 LATS1 large tumor suppressor kinase 1 gene DOID:2513 basal cell carcinoma ISO RGD:1349703 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 11994520 LATS1 large tumor suppressor kinase 1 gene DOID:2661 myoepithelioma ISO RGD:1349703 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11994520 LATS1 large tumor suppressor kinase 1 gene DOID:3069 malignant astrocytoma ISO RGD:1349703 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17049657 11994520 LATS1 large tumor suppressor kinase 1 gene DOID:3070 high grade glioma ISO RGD:1349703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11994520 LATS1 large tumor suppressor kinase 1 gene DOID:3307 teratoma ISO RGD:1349703 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 11994520 LATS1 large tumor suppressor kinase 1 gene DOID:630 genetic disease ISO RGD:1349703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994520 LATS1 large tumor suppressor kinase 1 gene DOID:9006493 Glandular and Epithelial Neoplasms ISO RGD:1349703 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21447609 11994520 LATS1 large tumor suppressor kinase 1 gene DOID:9538 multiple myeloma ISO RGD:1349703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11994541 PLK1 polo like kinase 1 gene DOID:0080600 COVID-19 ISO RGD:1353801 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11994541 PLK1 polo like kinase 1 gene DOID:10286 prostate carcinoma ISO RGD:1353801 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland PMID:15948124|REF_RGD_ID:2299939 11994541 PLK1 polo like kinase 1 gene DOID:11054 urinary bladder cancer ISO RGD:1353801 D RGD:9068941 20200609 RGD PMID:15761500|REF_RGD_ID:2299940 11994541 PLK1 polo like kinase 1 gene DOID:11054 urinary bladder cancer severity ISO RGD:1353801 D RGD:9068941 20200609 RGD PMID:16837776|REF_RGD_ID:2299938 11994541 PLK1 polo like kinase 1 gene DOID:1240 leukemia ISO RGD:1353801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26008977 11994541 PLK1 polo like kinase 1 gene DOID:2152 ovary epithelial cancer disease_progression ISO RGD:1353801 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:14970859|REF_RGD_ID:2299941 11994541 PLK1 polo like kinase 1 gene DOID:289 endometriosis ISO RGD:1353801 D RGD:9068941 20200609 RGD mRNA, protein:increased expression PMID:18353325|REF_RGD_ID:2299937 11994541 PLK1 polo like kinase 1 gene DOID:3070 high grade glioma ISO RGD:1353801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22000864 11994541 PLK1 polo like kinase 1 gene DOID:3459 breast carcinoma severity ISO RGD:1353801 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:15785925|REF_RGD_ID:2299942 11994541 PLK1 polo like kinase 1 gene DOID:630 genetic disease ISO RGD:1353801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994541 PLK1 polo like kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1353801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11994541 PLK1 polo like kinase 1 gene DOID:9007479 Habitual Abortions ISO RGD:1353801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent spontaneous abortion 11994555 GPR151 G protein-coupled receptor 151 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350857 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11994555 GPR151 G protein-coupled receptor 151 gene DOID:4990 essential tremor ISO RGD:1350857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:28492532|PMID:33279834 11994555 GPR151 G protein-coupled receptor 151 gene DOID:630 genetic disease ISO RGD:1350857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994555 GPR151 G protein-coupled receptor 151 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11994555 GPR151 G protein-coupled receptor 151 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350857 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11994558 BHLHA9 basic helix-loop-helix family member a9 gene DOID:0060432 chromosome 17p13.3 duplication syndrome ISO RGD:2302834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome PMID:21681106 11994558 BHLHA9 basic helix-loop-helix family member a9 gene DOID:630 genetic disease ISO RGD:2302834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994558 BHLHA9 basic helix-loop-helix family member a9 gene DOID:9002310 Split-Hand/Foot Malformation with Long Bone Deficiency 3 ISO RGD:2302834 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Chromosome 17P13.3, telomeric, duplication syndrome PMID:25741868 11994558 BHLHA9 basic helix-loop-helix family member a9 gene DOID:9002821 Bifid Femur with Monodactylous Ectrodactyly ISO RGD:2302834 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Gollop-Wolfgang complex PMID:25741868 11994558 BHLHA9 basic helix-loop-helix family member a9 gene DOID:9003579 Complex Camptosynpolydactyly ISO RGD:2302834 D RGD:7240710 20190315 OMIM 11994558 BHLHA9 basic helix-loop-helix family member a9 gene DOID:9003579 Complex Camptosynpolydactyly ISO RGD:2302834 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Camptosynpolydactyly, complex PMID:25741868|PMID:28492532 11994558 BHLHA9 basic helix-loop-helix family member a9 gene DOID:9005938 Mesoaxial Synostotic Syndactyly with Phalangeal Reduction ISO RGD:2302834 D RGD:7240710 20180130 OMIM 11994558 BHLHA9 basic helix-loop-helix family member a9 gene DOID:9005938 Mesoaxial Synostotic Syndactyly with Phalangeal Reduction ISO RGD:2302834 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mesoaxial synostotic syndactyly with phalangeal reduction PMID:15039974|PMID:25466284|PMID:25741868|PMID:28492532|PMID:9783716 11994563 UNC5C unc-5 netrin receptor C gene DOID:4450 renal cell carcinoma ISO RGD:1347353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21600761 11994563 UNC5C unc-5 netrin receptor C gene DOID:630 genetic disease ISO RGD:1347353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994585 PPP1R27 protein phosphatase 1 regulatory subunit 27 gene DOID:630 genetic disease ISO RGD:1346366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994592 DLX3 distal-less homeobox 3 gene DOID:0110052 amelogenesis imperfecta type 1B ISO RGD:1312567 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant PMID:28492532 11994592 DLX3 distal-less homeobox 3 gene DOID:0110053 amelogenesis imperfecta type 4 ISO RGD:1312567 D RGD:7240710 20180130 OMIM 11994592 DLX3 distal-less homeobox 3 gene DOID:0110053 amelogenesis imperfecta type 4 ISO RGD:1312567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV PMID:25741868|PMID:28492532 11994592 DLX3 distal-less homeobox 3 gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:1312567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:23949819|PMID:26478226|PMID:28492532|PMID:7942841|PMID:9295084|PMID:9443882 11994592 DLX3 distal-less homeobox 3 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1312567 D RGD:7240710 20180130 OMIM 11994592 DLX3 distal-less homeobox 3 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1312567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TDO syndrome | ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:17950683|PMID:18492670|PMID:20510228|PMID:21520071|PMID:25741868|PMID:27924851|PMID:28492532|PMID:9467018|PMID:9783705 11994592 DLX3 distal-less homeobox 3 gene DOID:13223 uterine fibroid ISO RGD:1312567 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Uterine leiomyoma PMID:25741868 11994592 DLX3 distal-less homeobox 3 gene DOID:2187 amelogenesis imperfecta ISO RGD:1312567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital enamel hypoplasia PMID:25741868 11994592 DLX3 distal-less homeobox 3 gene DOID:630 genetic disease ISO RGD:1312567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11994608 ATN1 atrophin 1 gene DOID:0060162 dentatorubral-pallidoluysian atrophy ISO RGD:1352790 D RGD:7240710 20180725 OMIM 11994608 ATN1 atrophin 1 gene DOID:0060162 dentatorubral-pallidoluysian atrophy ISO RGD:1352790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dentatorubral-pallidoluysian atrophy PMID:25741868 11994608 ATN1 atrophin 1 gene DOID:0060246 MASA syndrome ISO RGD:1352790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked hydrocephalus syndrome PMID:25741868 11994608 ATN1 atrophin 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1352790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11994608 ATN1 atrophin 1 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1352790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 11994608 ATN1 atrophin 1 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1352790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11994608 ATN1 atrophin 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1352790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11994608 ATN1 atrophin 1 gene DOID:0111621 Temtamy syndrome ISO RGD:1352790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11994608 ATN1 atrophin 1 gene DOID:5419 schizophrenia ISO RGD:1352790 D RGD:9068941 20200609 RGD PMID:9184318|REF_RGD_ID:1358440 11994608 ATN1 atrophin 1 gene DOID:630 genetic disease ISO RGD:1352790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28135719|PMID:30827498 11994608 ATN1 atrophin 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1352790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10814707 11994608 ATN1 atrophin 1 gene DOID:9007455 Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies ISO RGD:1352790 D RGD:7240710 20190814 OMIM 11994608 ATN1 atrophin 1 gene DOID:9007455 Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies ISO RGD:1352790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hypotonia, epilepsy, developmental delay, and digital anomalies PMID:17067864|PMID:25741868|PMID:30827498 11994608 ATN1 atrophin 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1352790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11994621 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:0060043 sexual health disorder ISO RGD:737336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19295509 11994621 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:737336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15264227 11994621 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:0060706 X-linked lymphoproliferative syndrome 2 ISO RGD:737336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked PMID:17080092|PMID:17989220|PMID:21119115|PMID:25666262|PMID:26581487|PMID:28492532 11994621 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:737336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11994621 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:0060823 syndromic X-linked intellectual disability 94 ISO RGD:737336 D RGD:7240710 20180130 OMIM 11994621 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:0060823 syndromic X-linked intellectual disability 94 ISO RGD:737336 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: GRIA3-Related Disorder | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 94 PMID:17989220|PMID:19022251|PMID:20716669|PMID:24721225|PMID:25326635|PMID:25741868|PMID:25985138|PMID:26467025|PMID:28492532|PMID:28708303|PMID:29016847|PMID:32977175|PMID:35031858 11994621 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:1059 intellectual disability ISO RGD:737336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:32581362|PMID:33818783 11994621 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:12849 autistic disorder ISO RGD:737336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11994621 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:1826 epilepsy ISO RGD:737336 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:33818783 11994621 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:543 dystonia ISO RGD:737336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868|PMID:32581362 11994621 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:630 genetic disease ISO RGD:737336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20716669|PMID:25741868|PMID:25985138|PMID:26467025|PMID:28492532|PMID:29016847|PMID:31209962|PMID:9536098 11994621 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:9001793 Generalized Epilepsy ISO RGD:737336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:32581362 11994621 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:9003937 X Chromosome, Trisomy Xq25 ISO RGD:737336 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Xq25 duplication syndrome 11994621 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25326635|PMID:25741868 11994621 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:9008086 Developmental Disabilities ISO RGD:737336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741907 11994727 LOC100968226 zinc finger protein 486 gene DOID:630 genetic disease ISO RGD:1346130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994736 EMX1 empty spiracles homeobox 1 gene DOID:0050473 Alstrom syndrome ISO RGD:1345106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 11994736 EMX1 empty spiracles homeobox 1 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1345106 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11994736 EMX1 empty spiracles homeobox 1 gene DOID:543 dystonia ISO RGD:1345106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11994736 EMX1 empty spiracles homeobox 1 gene DOID:630 genetic disease ISO RGD:1345106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994736 EMX1 empty spiracles homeobox 1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1345106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11994748 TMEM117 transmembrane protein 117 gene DOID:13580 cholestasis ISO RGD:1604277 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 11994748 TMEM117 transmembrane protein 117 gene DOID:630 genetic disease ISO RGD:1604277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994748 TMEM117 transmembrane protein 117 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1604277 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 11994764 LYL1 LYL1 basic helix-loop-helix family member gene DOID:0050858 Marshall-Smith syndrome ISO RGD:1343769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marshall-Smith syndrome PMID:20673863|PMID:23495138|PMID:25118028|PMID:25736188|PMID:26927468|PMID:27688808|PMID:28492532|PMID:29184170 11994764 LYL1 LYL1 basic helix-loop-helix family member gene DOID:0050908 myelodysplastic syndrome ISO RGD:1343769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16094422 11994764 LYL1 LYL1 basic helix-loop-helix family member gene DOID:0050990 episodic ataxia type 2 ISO RGD:1343769 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532|PMID:29184170 11994764 LYL1 LYL1 basic helix-loop-helix family member gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1343769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11994764 LYL1 LYL1 basic helix-loop-helix family member gene DOID:0111254 glutaric acidemia I ISO RGD:1343769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11994764 LYL1 LYL1 basic helix-loop-helix family member gene DOID:1037 lymphoid leukemia ISO RGD:1343769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3162254 11994764 LYL1 LYL1 basic helix-loop-helix family member gene DOID:3413 alpha-mannosidosis ISO RGD:1343769 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11994764 LYL1 LYL1 basic helix-loop-helix family member gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1343769 D RGD:7240710 20200325 OMIM 11994764 LYL1 LYL1 basic helix-loop-helix family member gene DOID:630 genetic disease ISO RGD:1343769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994764 LYL1 LYL1 basic helix-loop-helix family member gene DOID:9119 acute myeloid leukemia ISO RGD:1343769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16094422 11994772 SDC2 syndecan 2 gene DOID:630 genetic disease ISO RGD:734386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994772 SDC2 syndecan 2 gene DOID:674 cleft palate ISO RGD:734386 D RGD:9068941 20200609 RGD PMID:18716610|REF_RGD_ID:12798509 11994772 SDC2 syndecan 2 gene DOID:9296 cleft lip ISO RGD:734386 D RGD:9068941 20200609 RGD PMID:18716610|REF_RGD_ID:12798509 11994772 SDC2 syndecan 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:734386 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:14976204|REF_RGD_ID:2311706 11994784 PPA1 inorganic pyrophosphatase 1 gene DOID:630 genetic disease ISO RGD:1352864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994799 GALNT6 polypeptide N-acetylgalactosaminyltransferase 6 gene DOID:630 genetic disease ISO RGD:1321517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994838 CRYGA crystallin gamma A gene DOID:14557 primary pulmonary hypertension ISO RGD:1351411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11994838 CRYGA crystallin gamma A gene DOID:630 genetic disease ISO RGD:1351411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994838 CRYGA crystallin gamma A gene DOID:83 cataract ISO RGD:1351411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:28839118 11994838 CRYGA crystallin gamma A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11994845 SPEM2 SPEM family member 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1604207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11994845 SPEM2 SPEM family member 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1604207 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11994845 SPEM2 SPEM family member 2 gene DOID:1059 intellectual disability ISO RGD:1604207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11994845 SPEM2 SPEM family member 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1604207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 11994845 SPEM2 SPEM family member 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1604207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11994845 SPEM2 SPEM family member 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1604207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11994845 SPEM2 SPEM family member 2 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1604207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 11994873 YWHAB tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta gene DOID:11832 visual epilepsy ISO RGD:61998 D RGD:9068941 20230202 RGD PMID:12786973|REF_RGD_ID:2298728 11994873 YWHAB tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta gene DOID:2234 focal epilepsy ISO RGD:737527 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11994873 YWHAB tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta gene DOID:2316 brain ischemia ISO RGD:61998 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:15902199|REF_RGD_ID:2306031 11994873 YWHAB tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:737527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11994887 LOC100983617 protocadherin-8 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:735353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 11994887 LOC100983617 protocadherin-8 gene DOID:1059 intellectual disability ISO RGD:735353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11994887 LOC100983617 protocadherin-8 gene DOID:630 genetic disease ISO RGD:735353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994887 LOC100983617 protocadherin-8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735353 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 11994908 NUBP2 NUBP iron-sulfur cluster assembly factor 2, cytosolic gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1312953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 11994908 NUBP2 NUBP iron-sulfur cluster assembly factor 2, cytosolic gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1312953 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11994908 NUBP2 NUBP iron-sulfur cluster assembly factor 2, cytosolic gene DOID:1826 epilepsy ISO RGD:1312953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11994908 NUBP2 NUBP iron-sulfur cluster assembly factor 2, cytosolic gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1312953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11994908 NUBP2 NUBP iron-sulfur cluster assembly factor 2, cytosolic gene DOID:630 genetic disease ISO RGD:1312953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994928 EXOC3 exocyst complex component 3 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1344149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 11994928 EXOC3 exocyst complex component 3 gene DOID:630 genetic disease ISO RGD:1344149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994928 EXOC3 exocyst complex component 3 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1344149 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 11994955 MRPS18C mitochondrial ribosomal protein S18C gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1317511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 11994955 MRPS18C mitochondrial ribosomal protein S18C gene DOID:630 genetic disease ISO RGD:1317511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11994995 ARMCX2 armadillo repeat containing X-linked 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11994995 ARMCX2 armadillo repeat containing X-linked 2 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1602335 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 11994995 ARMCX2 armadillo repeat containing X-linked 2 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1602335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 11994995 ARMCX2 armadillo repeat containing X-linked 2 gene DOID:12849 autistic disorder ISO RGD:1602335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11994995 ARMCX2 armadillo repeat containing X-linked 2 gene DOID:630 genetic disease ISO RGD:1602335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995036 MRGPRD MAS related GPR family member D gene DOID:1059 intellectual disability ISO RGD:1344076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11995036 MRGPRD MAS related GPR family member D gene DOID:12930 dilated cardiomyopathy ISO RGD:1553636 D RGD:9068941 20220825 MouseDO 11995036 MRGPRD MAS related GPR family member D gene DOID:630 genetic disease ISO RGD:1344076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995036 MRGPRD MAS related GPR family member D gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1344076 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11995036 MRGPRD MAS related GPR family member D gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1344076 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0050696 fetal alcohol spectrum disorder treatment ISO RGD:2738 D RGD:9068941 20200609 RGD PMID:22037411|PMID:23763370|REF_RGD_ID:13210751|REF_RGD_ID:13432044 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0060041 autism spectrum disorder ISO RGD:731079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:731079 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability PMID:25741868 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:731079 D RGD:7240710 20180130 OMIM 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:731079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:16199547|PMID:16537520|PMID:17576681|PMID:18414213|PMID:19874789|PMID:20890276|PMID:22986046|PMID:23033978|PMID:23160955|PMID:23408766|PMID:23934111|PMID:24272827|PMID:24759409|PMID:25326635|PMID:25326637|PMID:25356899|PMID:25741868|PMID:25741869|PMID:26350515|PMID:26467025|PMID:26633542|PMID:27135925|PMID:27353043|PMID:27572814|PMID:27616045|PMID:27818011|PMID:27839871|PMID:28191890|PMID:28283559|PMID:28333917|PMID:28377535|PMID:28440294|PMID:28492532|PMID:28554332|PMID:28708303|PMID:28856709|PMID:28867141|PMID:29681796|PMID:29851452|PMID:30151416|PMID:30217972|PMID:30315573|PMID:30440138|PMID:30564305|PMID:30842224|PMID:31429998|PMID:31623504|PMID:33604570|PMID:34008892|PMID:34160719|PMID:9536098 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:731079 D RGD:7240710 20180130 OMIM 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:731079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 | ClinVar Annotator: match by term: GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder PMID:16199547|PMID:16537520|PMID:17576681|PMID:18414213|PMID:19874789|PMID:20890276|PMID:22986046|PMID:23033978|PMID:23408766|PMID:24272827|PMID:24759409|PMID:24863970|PMID:25326635|PMID:25356899|PMID:25741868|PMID:25741869|PMID:26350515|PMID:26467025|PMID:26633542|PMID:27353043|PMID:27572814|PMID:27616045|PMID:27818011|PMID:27839871|PMID:28191890|PMID:28283559|PMID:28333917|PMID:28377535|PMID:28492532|PMID:28554332|PMID:28708303|PMID:28856709|PMID:28867141|PMID:29681796|PMID:29851452|PMID:30151416|PMID:30217972|PMID:30315573|PMID:30440138|PMID:30564305|PMID:30842224|PMID:31429998|PMID:31623504|PMID:33604570|PMID:34008892|PMID:34160719|PMID:9536098 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:731079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 | ClinVar Annotator: match by term: GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder PMID:16199547|PMID:16537520|PMID:17576681|PMID:18414213|PMID:19874789|PMID:20890276|PMID:22986046|PMID:23033978|PMID:23408766|PMID:24272827|PMID:24759409|PMID:24863970|PMID:25326635|PMID:25356899|PMID:25741868|PMID:25741869|PMID:26350515|PMID:26467025|PMID:26633542|PMID:27353043|PMID:27572814|PMID:27616045|PMID:27818011|PMID:27839871|PMID:28191890|PMID:28283559|PMID:28333917|PMID:28377535|PMID:28440294|PMID:28492532|PMID:28554332|PMID:28708303|PMID:28856709|PMID:28867141|PMID:29681796|PMID:29851452|PMID:30151416|PMID:30217972|PMID:30315573|PMID:30440138|PMID:30564305|PMID:30842224|PMID:31429998|PMID:31623504|PMID:33604570|PMID:34008892|PMID:34160719|PMID:9536098 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:10584 retinitis pigmentosa ISO RGD:2738 D RGD:9068941 20200609 RGD protein:decreased expression:outer plexiform layer of retina (rat) PMID:11925013|REF_RGD_ID:13432034 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:1059 intellectual disability ISO RGD:731079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:20890276|PMID:23160955|PMID:24272827|PMID:25326637|PMID:25741868|PMID:27818011|PMID:27839871|PMID:28333917|PMID:28377535|PMID:28492532|PMID:28867141 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:10652 Alzheimer's disease ISO RGD:731079 D RGD:9068941 20200609 RGD PMID:24156266|REF_RGD_ID:13792688 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:10652 Alzheimer's disease ISO RGD:731079 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :rs1806201 (human) PMID:24292895|REF_RGD_ID:13792709 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:10652 Alzheimer's disease ISO RGD:731079 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-421C>A (rs3764028) (human) PMID:18983893|REF_RGD_ID:13792713 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:10652 Alzheimer's disease no_association ISO RGD:731079 D RGD:9068941 20200609 RGD DNA:SNP: :2664C>T (rs1806201) (human) PMID:24292895|REF_RGD_ID:13792709 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:10652 Alzheimer's disease no_association ISO RGD:731079 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon, 3' utr:-200T>G (rs1019385), 2664C>T (rs1806201), 5072G>T (rs890) (human) PMID:18303265|REF_RGD_ID:13792714 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:10652 Alzheimer's disease no_association ISO RGD:731079 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-200T>G (rs1019385), -1447T>C, -1497G>A (rs12368476) (human) PMID:18983893|REF_RGD_ID:13792713 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:10907 microcephaly ISO RGD:731079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:2738 D RGD:9068941 20200609 RGD PMID:18571865|REF_RGD_ID:13210768 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:2738 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain (rat) PMID:22777493|REF_RGD_ID:13432033 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:11446 sciatic neuropathy ISO RGD:2738 D RGD:9068941 20200609 RGD PMID:26656067|REF_RGD_ID:13792690 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:11782 astigmatism ISO RGD:731079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Astigmatism PMID:25741868|PMID:28377535|PMID:28492532|PMID:34160719 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:12849 autistic disorder ISO RGD:731079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:12858 Huntington's disease ISO RGD:10687 D RGD:9068941 20200609 RGD PMID:17409241|REF_RGD_ID:13432195 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:12858 Huntington's disease onset ISO RGD:731079 D RGD:9068941 20200609 RGD DNA:SNP: :2664C>T (rs1806201) (human) PMID:17569088|REF_RGD_ID:13432554 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:12858 Huntington's disease onset ISO RGD:731079 D RGD:9068941 20200609 RGD DNA:SNPs: :2664C>T (rs1806201), 5072T>G (rs890) (human) PMID:15742215|REF_RGD_ID:13432556 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:1561 cognitive disorder ISO RGD:2738 D RGD:9068941 20200609 RGD associated with Fetal Hypoxia;mRNA, protein:decreased expression:hippocampus PMID:26656067|REF_RGD_ID:13792690 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:1574 alcohol use disorder ISO RGD:731079 D RGD:9068941 20200609 RGD PMID:14573320|PMID:16911840|REF_RGD_ID:1642200|REF_RGD_ID:1642372 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:1826 epilepsy ISO RGD:731079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:25741868|PMID:27818011|PMID:28333917|PMID:28377535|PMID:28492532|PMID:28867141 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:1969 cerebral palsy ISO RGD:731079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868|PMID:28492532 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:2538 Landau-Kleffner syndrome ISO RGD:731079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:25741868 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:3312 bipolar disorder ISO RGD:731079 D RGD:9068941 20200609 RGD DNA:polymorphism:multiple PMID:16549338|REF_RGD_ID:1642201 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:3328 temporal lobe epilepsy ISO RGD:731079 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus pyramidal layer (human) PMID:9761317|REF_RGD_ID:13432039 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:3891 placental insufficiency ISO RGD:2738 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:19144756|REF_RGD_ID:2326049 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:4377 egg allergy ISO RGD:2738 D RGD:9068941 20200609 RGD protein:increased expression:brain, cingulate cortex (rat) PMID:19208366|REF_RGD_ID:2326032 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:535 sleep disorder ISO RGD:731079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sleep disturbance PMID:25741868 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:5419 schizophrenia ISO RGD:2738 D RGD:9068941 20200609 RGD PMID:28628228|REF_RGD_ID:13792717 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:5419 schizophrenia ISO RGD:731079 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:5419 schizophrenia ISO RGD:731079 D RGD:9068941 20200609 RGD PMID:17224684|REF_RGD_ID:1642197 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:5419 schizophrenia ISO RGD:731079 D RGD:9068941 20200609 RGD DNA:polymorphism:multiple PMID:16549338|REF_RGD_ID:1642201 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:543 dystonia ISO RGD:731079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal dystonia PMID:25741868 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:630 genetic disease ISO RGD:731079 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12738960|PMID:16157279|PMID:18414213|PMID:19874789|PMID:20890276|PMID:22986046|PMID:23020937|PMID:23160955|PMID:23408766|PMID:23478024|PMID:23934111|PMID:24272827|PMID:25326635|PMID:25356899|PMID:25363768|PMID:25741868|PMID:26467025|PMID:26633542|PMID:27135925|PMID:27818011|PMID:27839871|PMID:28191890|PMID:28377535|PMID:28492532|PMID:28856709|PMID:29655203|PMID:30217972|PMID:34008892 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:8725 vascular dementia severity ISO RGD:731079 D RGD:9068941 20200609 RGD PMID:25261450|REF_RGD_ID:13792687 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9001793 Generalized Epilepsy ISO RGD:731079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9002211 Hyperalgesia ISO RGD:731079 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20042082 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9002211 Hyperalgesia treatment ISO RGD:2738 D RGD:9068941 20200609 RGD PMID:24204988|REF_RGD_ID:13210755 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:2738 D RGD:9068941 20200609 RGD PMID:20423831|REF_RGD_ID:13210763 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9002669 Hypoxia treatment ISO RGD:2738 D RGD:9068941 20200609 RGD associated with Hypercapnia PMID:24718106|REF_RGD_ID:13210749 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2738 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus (rat) PMID:19761817|REF_RGD_ID:2325954 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9004009 Reperfusion Injury ISO RGD:2738 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cerebral cortex, hippocampus (rat) PMID:20350575|REF_RGD_ID:2325867 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731079 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9004866 Ataxia ISO RGD:731079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Dyssynergia PMID:25741868|PMID:27818011|PMID:28333917|PMID:28377535|PMID:28492532|PMID:28867141 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9005077 Joint Instability ISO RGD:731079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:25741868|PMID:28377535|PMID:28492532|PMID:34160719 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9005603 Muscle Hypotonia ISO RGD:731079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:25741868 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2738 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebellum (rat) PMID:20056114|REF_RGD_ID:4107025 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9006024 Hypotension ISO RGD:731079 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18639534 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9006062 Nervous System Trauma ISO RGD:2738 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord dorsal horn (rat) PMID:20079352|REF_RGD_ID:4107024 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:731079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:23020937|PMID:24272827|PMID:25326635|PMID:25356899|PMID:25741868|PMID:26350515|PMID:27572814|PMID:27839871|PMID:28191890|PMID:28377535|PMID:28492532|PMID:28856709|PMID:29681796|PMID:30217972|PMID:30440138|PMID:30842224|PMID:31429998|PMID:34008892 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9007980 Sleep Deprivation ISO RGD:2738 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus (rat) PMID:20237303|REF_RGD_ID:4107020 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9008086 Developmental Disabilities ISO RGD:731079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741871 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:731079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9008582 Developmental Disease ISO RGD:731079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:26350515|PMID:28377535|PMID:28492532|PMID:30842224 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:2738 D RGD:9068941 20200609 RGD PMID:25457025|REF_RGD_ID:13792697 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9281 phenylketonuria ISO RGD:10687 D RGD:9068941 20200609 RGD protein:decreased expression:forebrain (mouse) PMID:16153867|REF_RGD_ID:13210766 11995063 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9993 hypoglycemia ISO RGD:2738 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebellum (rat) PMID:20056114|REF_RGD_ID:4107025 11995079 ODF2 outer dense fiber of sperm tails 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731998 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11995079 ODF2 outer dense fiber of sperm tails 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:731998 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11995079 ODF2 outer dense fiber of sperm tails 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731998 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11995079 ODF2 outer dense fiber of sperm tails 2 gene DOID:630 genetic disease ISO RGD:731998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11995193 ZPBP2 zona pellucida binding protein 2 gene DOID:0060224 atrial fibrillation ISO RGD:1603918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 11995193 ZPBP2 zona pellucida binding protein 2 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1603918 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 11995193 ZPBP2 zona pellucida binding protein 2 gene DOID:630 genetic disease ISO RGD:1603918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995214 CIRBP cold inducible RNA binding protein gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1343841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 11995214 CIRBP cold inducible RNA binding protein gene DOID:0060041 autism spectrum disorder ISO RGD:1343841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24781735 11995214 CIRBP cold inducible RNA binding protein gene DOID:5339 cyclic hematopoiesis ISO RGD:1343841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 11995214 CIRBP cold inducible RNA binding protein gene DOID:630 genetic disease ISO RGD:1343841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995214 CIRBP cold inducible RNA binding protein gene DOID:9001579 Neurogenic Inflammation ISO RGD:1343841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24223948 11995214 CIRBP cold inducible RNA binding protein gene DOID:9007102 Myocardial Ischemia ISO RGD:1343841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11995214 CIRBP cold inducible RNA binding protein gene DOID:9007727 Alcohol-Induced Disorders, Nervous System ISO RGD:1343841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24223948 11995215 HMOX1 heme oxygenase 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:730901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11995215 HMOX1 heme oxygenase 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:17511582|REF_RGD_ID:4145404 11995215 HMOX1 heme oxygenase 1 gene DOID:0050852 limb ischemia ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:12593860|REF_RGD_ID:1598394 11995215 HMOX1 heme oxygenase 1 gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 11995215 HMOX1 heme oxygenase 1 gene DOID:0060180 colitis ISO RGD:2806 D RGD:9068941 20200609 RGD protein:increased expression:colon: PMID:22261574|REF_RGD_ID:7207796 11995215 HMOX1 heme oxygenase 1 gene DOID:0060180 colitis ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16365149|PMID:21444764 11995215 HMOX1 heme oxygenase 1 gene DOID:0060180 colitis treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:21853095|REF_RGD_ID:10766442 11995215 HMOX1 heme oxygenase 1 gene DOID:0060903 thrombosis ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:15242554|REF_RGD_ID:1598405 11995215 HMOX1 heme oxygenase 1 gene DOID:0060903 thrombosis ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19168058 11995215 HMOX1 heme oxygenase 1 gene DOID:0080177 hepatic veno-occlusive disease ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:19387321|REF_RGD_ID:4145318 11995215 HMOX1 heme oxygenase 1 gene DOID:0080855 Parkinsonism treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:24169105|REF_RGD_ID:10755712 11995215 HMOX1 heme oxygenase 1 gene DOID:10322 berylliosis ISO RGD:730901 D RGD:9068941 20200609 RGD protein:increased activity:sputum PMID:19453654|REF_RGD_ID:4145349 11995215 HMOX1 heme oxygenase 1 gene DOID:10325 silicosis ISO RGD:10717 D RGD:9068941 20200609 RGD protein:increased expression:serum, lung PMID:16858012|REF_RGD_ID:4145384 11995215 HMOX1 heme oxygenase 1 gene DOID:10325 silicosis ISO RGD:730901 D RGD:9068941 20200609 RGD protein:increased expression:serum, lung PMID:16858012|REF_RGD_ID:4145384 11995215 HMOX1 heme oxygenase 1 gene DOID:10533 viral pneumonia ISO RGD:10717 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:8843786|REF_RGD_ID:4145417 11995215 HMOX1 heme oxygenase 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16319717 11995215 HMOX1 heme oxygenase 1 gene DOID:10591 pre-eclampsia ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22197494 11995215 HMOX1 heme oxygenase 1 gene DOID:10652 Alzheimer's disease ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11144356 11995215 HMOX1 heme oxygenase 1 gene DOID:10652 Alzheimer's disease ISO RGD:730901 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, temporal cortex (human) PMID:7778849|REF_RGD_ID:1358658 11995215 HMOX1 heme oxygenase 1 gene DOID:1073 renal hypertension ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:16316349|REF_RGD_ID:1582711 11995215 HMOX1 heme oxygenase 1 gene DOID:10762 portal hypertension ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:16830363|REF_RGD_ID:1582701 11995215 HMOX1 heme oxygenase 1 gene DOID:10763 hypertension ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:12215473|REF_RGD_ID:1580453 11995215 HMOX1 heme oxygenase 1 gene DOID:10763 hypertension ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16959961|PMID:22349312|PMID:22352330 11995215 HMOX1 heme oxygenase 1 gene DOID:10763 hypertension susceptibility ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:12872043|REF_RGD_ID:1598400 11995215 HMOX1 heme oxygenase 1 gene DOID:10763 hypertension treatment ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:20836698|REF_RGD_ID:10755717 11995215 HMOX1 heme oxygenase 1 gene DOID:10923 sickle cell anemia ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:11238038|REF_RGD_ID:10755563 11995215 HMOX1 heme oxygenase 1 gene DOID:10923 sickle cell anemia ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:11238038|REF_RGD_ID:10755563 11995215 HMOX1 heme oxygenase 1 gene DOID:10923 sickle cell anemia treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:20306336|REF_RGD_ID:10755565 11995215 HMOX1 heme oxygenase 1 gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:730901 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20013271|REF_RGD_ID:10755701 11995215 HMOX1 heme oxygenase 1 gene DOID:11394 adult respiratory distress syndrome susceptibility ISO RGD:730901 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:19526221|REF_RGD_ID:4145346 11995215 HMOX1 heme oxygenase 1 gene DOID:11446 sciatic neuropathy treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23224421|REF_RGD_ID:10755722 11995215 HMOX1 heme oxygenase 1 gene DOID:11713 diabetic angiopathy ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16959961 11995215 HMOX1 heme oxygenase 1 gene DOID:11823 hepatorenal syndrome ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21253390 11995215 HMOX1 heme oxygenase 1 gene DOID:11914 gastroparesis ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20378827 11995215 HMOX1 heme oxygenase 1 gene DOID:12134 factor VIII deficiency treatment ISO RGD:730901 D RGD:9068941 20200609 RGD DNA:repeat:promoter PMID:23716558|REF_RGD_ID:10755564 11995215 HMOX1 heme oxygenase 1 gene DOID:12236 primary biliary cholangitis ISO RGD:2806 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, lung PMID:12114196|REF_RGD_ID:625603 11995215 HMOX1 heme oxygenase 1 gene DOID:12337 varicocele severity ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:15878918|REF_RGD_ID:1598403 11995215 HMOX1 heme oxygenase 1 gene DOID:12365 malaria ISO RGD:10717 D RGD:9068941 20220825 MouseDO OMIM:609148 | OMIM:611162 11995215 HMOX1 heme oxygenase 1 gene DOID:1247 blood coagulation disease ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9884342 11995215 HMOX1 heme oxygenase 1 gene DOID:12510 retinal ischemia treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23537149|REF_RGD_ID:10755711 11995215 HMOX1 heme oxygenase 1 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:730901 D RGD:9068941 20200609 RGD mRNA:increased expression:blood cells PMID:18301921|REF_RGD_ID:4145353 11995215 HMOX1 heme oxygenase 1 gene DOID:1289 neurodegenerative disease ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10942521|PMID:12709579|PMID:15964507 11995215 HMOX1 heme oxygenase 1 gene DOID:12894 Sjogren's syndrome treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:24941846|REF_RGD_ID:10450595 11995215 HMOX1 heme oxygenase 1 gene DOID:13100 intracranial vasospasm ISO RGD:2806 D RGD:9068941 20200609 RGD associated with Subarachnoid Hemorrhage PMID:19686725|REF_RGD_ID:4145300 11995215 HMOX1 heme oxygenase 1 gene DOID:13100 intracranial vasospasm ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:14657544|REF_RGD_ID:1598406 11995215 HMOX1 heme oxygenase 1 gene DOID:13100 intracranial vasospasm treatment ISO RGD:730901 D RGD:9068941 20200609 RGD associated with Subarachnoid Hemorrhage PMID:21654696|REF_RGD_ID:10755572 11995215 HMOX1 heme oxygenase 1 gene DOID:13241 Behcet's disease ISO RGD:730901 D RGD:9068941 20200609 RGD mRNA:decreased expression:mononulcear cell: PMID:18234118|REF_RGD_ID:7777175 11995215 HMOX1 heme oxygenase 1 gene DOID:13378 Kawasaki disease no_association ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:14521259|REF_RGD_ID:1598409 11995215 HMOX1 heme oxygenase 1 gene DOID:13406 pulmonary sarcoidosis ISO RGD:730901 D RGD:9068941 20200609 RGD protein:increased activity:sputum PMID:19453654|REF_RGD_ID:4145349 11995215 HMOX1 heme oxygenase 1 gene DOID:13413 hepatic encephalopathy treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23670786|REF_RGD_ID:10766445 11995215 HMOX1 heme oxygenase 1 gene DOID:14115 toxic shock syndrome ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:18208666|REF_RGD_ID:4145362 11995215 HMOX1 heme oxygenase 1 gene DOID:14330 Parkinson's disease ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21318773 11995215 HMOX1 heme oxygenase 1 gene DOID:1485 cystic fibrosis ISO RGD:730901 D RGD:9068941 20200609 RGD mRNA:protein:increased expression:lung PMID:15184199|REF_RGD_ID:4145410 11995215 HMOX1 heme oxygenase 1 gene DOID:1584 acute chest syndrome ISO RGD:730901 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:repeat:promoter PMID:22966170|REF_RGD_ID:10755560 11995215 HMOX1 heme oxygenase 1 gene DOID:1673 pneumothorax ISO RGD:730901 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20526373|REF_RGD_ID:4145332 11995215 HMOX1 heme oxygenase 1 gene DOID:1824 status epilepticus ISO RGD:2806 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:20971094|REF_RGD_ID:4145131 11995215 HMOX1 heme oxygenase 1 gene DOID:1824 status epilepticus ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20971094 11995215 HMOX1 heme oxygenase 1 gene DOID:2018 hyperinsulinism ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19171794 11995215 HMOX1 heme oxygenase 1 gene DOID:2237 hepatitis ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14512878 11995215 HMOX1 heme oxygenase 1 gene DOID:2316 brain ischemia ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:16464361|PMID:21276833|REF_RGD_ID:10755576|REF_RGD_ID:1582709 11995215 HMOX1 heme oxygenase 1 gene DOID:2349 arteriosclerosis ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:12958201|REF_RGD_ID:1598395 11995215 HMOX1 heme oxygenase 1 gene DOID:2351 iron metabolism disease ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9884342 11995215 HMOX1 heme oxygenase 1 gene DOID:2352 hemochromatosis ISO RGD:10717 D RGD:9068941 20220825 MouseDO OMIM:231100 11995215 HMOX1 heme oxygenase 1 gene DOID:26 pancreas disease ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18784349 11995215 HMOX1 heme oxygenase 1 gene DOID:2773 contact dermatitis ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11995215 HMOX1 heme oxygenase 1 gene DOID:2799 bronchiolitis obliterans ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:12973103|REF_RGD_ID:4145412 11995215 HMOX1 heme oxygenase 1 gene DOID:2841 asthma ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:20596599|REF_RGD_ID:4145403 11995215 HMOX1 heme oxygenase 1 gene DOID:2841 asthma ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18048809 11995215 HMOX1 heme oxygenase 1 gene DOID:2841 asthma severity ISO RGD:730901 D RGD:9068941 20200609 RGD mRNA;protein:increased expression:Leukocytes, Mononuclear PMID:16196283|REF_RGD_ID:4145408 11995215 HMOX1 heme oxygenase 1 gene DOID:299 adenocarcinoma susceptibility ISO RGD:730901 D RGD:9068941 20200609 RGD Lung Adenocarcinoma; DNA:allele:promoter:L allele of the (GT)n repeat (>30 repeats) PMID:15688187|REF_RGD_ID:1601607 11995215 HMOX1 heme oxygenase 1 gene DOID:3021 acute kidney failure ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21048024 11995215 HMOX1 heme oxygenase 1 gene DOID:3021 acute kidney failure treatment ISO RGD:2806 D RGD:9068941 20200609 RGD associated with Sepsis PMID:23807243|REF_RGD_ID:10755583 11995215 HMOX1 heme oxygenase 1 gene DOID:3082 interstitial lung disease ISO RGD:730901 D RGD:9068941 20200609 RGD Idiopathic Interstitial Pneumonias;protein:increased expression:lung PMID:11727267|REF_RGD_ID:4145416 11995215 HMOX1 heme oxygenase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730901 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 11995215 HMOX1 heme oxygenase 1 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:730901 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:17254481|REF_RGD_ID:4145371 11995215 HMOX1 heme oxygenase 1 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:730901 D RGD:7240710 20230505 OMIM 11995215 HMOX1 heme oxygenase 1 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:20705587|REF_RGD_ID:10755705 11995215 HMOX1 heme oxygenase 1 gene DOID:326 ischemia ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15036356|PMID:19667931 11995215 HMOX1 heme oxygenase 1 gene DOID:3393 coronary artery disease ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12136229 11995215 HMOX1 heme oxygenase 1 gene DOID:3393 coronary artery disease ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:12377749|REF_RGD_ID:1580454 11995215 HMOX1 heme oxygenase 1 gene DOID:3393 coronary artery disease no_association ISO RGD:730901 D RGD:9068941 20200609 RGD DNA:repeat:promoter PMID:14691581|REF_RGD_ID:1580470 11995215 HMOX1 heme oxygenase 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:12136229|REF_RGD_ID:1598401 11995215 HMOX1 heme oxygenase 1 gene DOID:3407 carotid artery disease ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17095719 11995215 HMOX1 heme oxygenase 1 gene DOID:3410 carotid artery thrombosis treatment ISO RGD:10717 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell PMID:23590132|REF_RGD_ID:10755698 11995215 HMOX1 heme oxygenase 1 gene DOID:349 systemic mastocytosis ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17420286 11995215 HMOX1 heme oxygenase 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23870531|PMID:24252362|REF_RGD_ID:10755587|REF_RGD_ID:10755755 11995215 HMOX1 heme oxygenase 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:20888632|REF_RGD_ID:10755588 11995215 HMOX1 heme oxygenase 1 gene DOID:3526 cerebral infarction ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:23311871|REF_RGD_ID:10755574 11995215 HMOX1 heme oxygenase 1 gene DOID:3770 pulmonary fibrosis ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814490 11995215 HMOX1 heme oxygenase 1 gene DOID:409 liver disease ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16964402|PMID:17002867|PMID:17275847 11995215 HMOX1 heme oxygenase 1 gene DOID:4247 coronary restenosis susceptibility ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:16020495|REF_RGD_ID:1598402 11995215 HMOX1 heme oxygenase 1 gene DOID:4724 brain edema ISO RGD:2806 D RGD:9068941 20200609 RGD associated with Cerebral Hemorrhage;mRNA, protein:increased expression:brain PMID:23438812|REF_RGD_ID:10766444 11995215 HMOX1 heme oxygenase 1 gene DOID:5041 esophageal cancer ISO RGD:2806 D RGD:9068941 20200609 RGD protein:increased expression:esophagus PMID:20498946|REF_RGD_ID:4145286 11995215 HMOX1 heme oxygenase 1 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:2806 D RGD:9068941 20200903 RGD protein:increased expression:lung PMID:32209028|REF_RGD_ID:38549370 11995215 HMOX1 heme oxygenase 1 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:730901 D RGD:9068941 20200903 RGD protein:increased expression:lung, endothelial cell PMID:32209028|REF_RGD_ID:38549370 11995215 HMOX1 heme oxygenase 1 gene DOID:552 pneumonia ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16582079 11995215 HMOX1 heme oxygenase 1 gene DOID:552 pneumonia susceptibility ISO RGD:730901 D RGD:9068941 20200609 RGD DNA:allele:promoter:L allele of the (GT)n repeat (>30 repeats) PMID:16582079|REF_RGD_ID:1601608 11995215 HMOX1 heme oxygenase 1 gene DOID:5679 retinal disease ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 11995215 HMOX1 heme oxygenase 1 gene DOID:583 hemolytic anemia ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9884342 11995215 HMOX1 heme oxygenase 1 gene DOID:5844 myocardial infarction ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:12392996|PMID:20925964|REF_RGD_ID:1598393|REF_RGD_ID:4145134 11995215 HMOX1 heme oxygenase 1 gene DOID:6000 congestive heart failure ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 11995215 HMOX1 heme oxygenase 1 gene DOID:6000 congestive heart failure treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23592614|REF_RGD_ID:10755584 11995215 HMOX1 heme oxygenase 1 gene DOID:630 genetic disease ISO RGD:730901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11995215 HMOX1 heme oxygenase 1 gene DOID:6432 pulmonary hypertension ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:20957739|REF_RGD_ID:4145325 11995215 HMOX1 heme oxygenase 1 gene DOID:6432 pulmonary hypertension ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:14970910|PMID:19409105|REF_RGD_ID:1582715|REF_RGD_ID:4145307 11995215 HMOX1 heme oxygenase 1 gene DOID:6432 pulmonary hypertension ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:20957739|REF_RGD_ID:4145325 11995215 HMOX1 heme oxygenase 1 gene DOID:750 peptic ulcer disease ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:20610858|REF_RGD_ID:4145283 11995215 HMOX1 heme oxygenase 1 gene DOID:7693 abdominal aortic aneurysm ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:12182912|REF_RGD_ID:1580455 11995215 HMOX1 heme oxygenase 1 gene DOID:783 end stage renal disease ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22622455 11995215 HMOX1 heme oxygenase 1 gene DOID:7998 hyperthyroidism treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23623788|REF_RGD_ID:10755742 11995215 HMOX1 heme oxygenase 1 gene DOID:8440 ileus treatment ISO RGD:2806 D RGD:9068941 20200609 RGD associated with Sepsis PMID:22921918|REF_RGD_ID:10755726 11995215 HMOX1 heme oxygenase 1 gene DOID:850 lung disease ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:17264168|REF_RGD_ID:4145370 11995215 HMOX1 heme oxygenase 1 gene DOID:850 lung disease ISO RGD:10717 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:16309574|REF_RGD_ID:4143390 11995215 HMOX1 heme oxygenase 1 gene DOID:850 lung disease ISO RGD:2806 D RGD:9068941 20200609 RGD Ventilator-Induced Lung Injury; protein:increased expression:lung PMID:20663303|REF_RGD_ID:4140396 11995215 HMOX1 heme oxygenase 1 gene DOID:850 lung disease ISO RGD:2806 D RGD:9068941 20200609 RGD acute lung injury PMID:19024100|PMID:20638132|REF_RGD_ID:4145327|REF_RGD_ID:4145350 11995215 HMOX1 heme oxygenase 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:22139798|REF_RGD_ID:10755566 11995215 HMOX1 heme oxygenase 1 gene DOID:8927 learning disability ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11718997 11995215 HMOX1 heme oxygenase 1 gene DOID:900 hepatopulmonary syndrome ISO RGD:2806 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:21518603|REF_RGD_ID:10755724 11995215 HMOX1 heme oxygenase 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23943397|REF_RGD_ID:10766443 11995215 HMOX1 heme oxygenase 1 gene DOID:9000184 Ventricular Fibrillation ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:12958158|REF_RGD_ID:1598396 11995215 HMOX1 heme oxygenase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14647439|PMID:22490514 11995215 HMOX1 heme oxygenase 1 gene DOID:9000310 Lung Injury ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17365036 11995215 HMOX1 heme oxygenase 1 gene DOID:9000352 Vascular System Injuries ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19234301 11995215 HMOX1 heme oxygenase 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:16543643|REF_RGD_ID:1582702 11995215 HMOX1 heme oxygenase 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:2806 D RGD:9068941 20200609 RGD mRNA:increased expression:subarachnoid space PMID:19686725|REF_RGD_ID:4145300 11995215 HMOX1 heme oxygenase 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:14657544|REF_RGD_ID:1598406 11995215 HMOX1 heme oxygenase 1 gene DOID:9000528 Coronary Disease ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:15869055|REF_RGD_ID:1598404 11995215 HMOX1 heme oxygenase 1 gene DOID:9000774 Brain Death ISO RGD:2806 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:23356498|REF_RGD_ID:10755728 11995215 HMOX1 heme oxygenase 1 gene DOID:9000774 Brain Death treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:20819234|REF_RGD_ID:10766439 11995215 HMOX1 heme oxygenase 1 gene DOID:9000784 Fibrosis ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18784349 11995215 HMOX1 heme oxygenase 1 gene DOID:9000855 Experimental Radiation Injuries treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:22247972|REF_RGD_ID:10755582 11995215 HMOX1 heme oxygenase 1 gene DOID:9000884 Rhabdomyolysis treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:21726176|REF_RGD_ID:10766438 11995215 HMOX1 heme oxygenase 1 gene DOID:9000972 Fever ISO RGD:2806 D RGD:9068941 20200609 RGD protein:increased expression:glial cell PMID:12834255|REF_RGD_ID:1304397 11995215 HMOX1 heme oxygenase 1 gene DOID:9000998 Brain Injuries ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23470432|REF_RGD_ID:10755702 11995215 HMOX1 heme oxygenase 1 gene DOID:9001390 Testis Reperfusion Injury treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23142244|REF_RGD_ID:10755740 11995215 HMOX1 heme oxygenase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:19554654|REF_RGD_ID:4145305 11995215 HMOX1 heme oxygenase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16025519|PMID:16610050|PMID:21163135|PMID:25380136 11995215 HMOX1 heme oxygenase 1 gene DOID:9001600 Wounds and Injuries ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12649161 11995215 HMOX1 heme oxygenase 1 gene DOID:9001614 Chronic Tubulointerstitial Nephropathy ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:11135063|REF_RGD_ID:10755562 11995215 HMOX1 heme oxygenase 1 gene DOID:9001627 Pathologic Constriction ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:20022212|REF_RGD_ID:4145296 11995215 HMOX1 heme oxygenase 1 gene DOID:9001650 Pregnancy-Induced Hypertension treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:21383306|REF_RGD_ID:10755723 11995215 HMOX1 heme oxygenase 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:20514418|REF_RGD_ID:10755719 11995215 HMOX1 heme oxygenase 1 gene DOID:9001708 Hemorrhagic Shock severity ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:20819606|REF_RGD_ID:10755727 11995215 HMOX1 heme oxygenase 1 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:2806 D RGD:9068941 20200609 RGD associated with Glaucoma PMID:20357190|REF_RGD_ID:4145289 11995215 HMOX1 heme oxygenase 1 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:10717 D RGD:9068941 20200609 RGD associated with influenza;protein:increased expression:lung PMID:17348295|REF_RGD_ID:4145366 11995215 HMOX1 heme oxygenase 1 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:20446775|REF_RGD_ID:10755725 11995215 HMOX1 heme oxygenase 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2806 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21849637|REF_RGD_ID:10755581 11995215 HMOX1 heme oxygenase 1 gene DOID:9002221 Hyperplasia ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19234301 11995215 HMOX1 heme oxygenase 1 gene DOID:9002254 Dilatation, Pathologic ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:15057912|REF_RGD_ID:1580452 11995215 HMOX1 heme oxygenase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25246272 11995215 HMOX1 heme oxygenase 1 gene DOID:9002473 Blast Crisis ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:22139798|REF_RGD_ID:10755566 11995215 HMOX1 heme oxygenase 1 gene DOID:9002514 Neointima treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:21804207|REF_RGD_ID:10755571 11995215 HMOX1 heme oxygenase 1 gene DOID:9002532 Neonatal Hyperbilirubinemia ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:19646271|REF_RGD_ID:4145302 11995215 HMOX1 heme oxygenase 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12401953 11995215 HMOX1 heme oxygenase 1 gene DOID:9003230 Graft Occlusion, Vascular ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:12958201|REF_RGD_ID:1598395 11995215 HMOX1 heme oxygenase 1 gene DOID:9003420 Carbon Monoxide Poisoning ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:19520142|PMID:20422170|REF_RGD_ID:4145288|REF_RGD_ID:4145306 11995215 HMOX1 heme oxygenase 1 gene DOID:9003603 Hemolysis ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25247420 11995215 HMOX1 heme oxygenase 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:730901 D RGD:9068941 20200609 RGD mRNA, protein:increased expression: nasal mucosa PMID:16540907|REF_RGD_ID:4145406 11995215 HMOX1 heme oxygenase 1 gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:25447631|REF_RGD_ID:10766440 11995215 HMOX1 heme oxygenase 1 gene DOID:9003936 Cardiomegaly ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15226216 11995215 HMOX1 heme oxygenase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:12919086|PMID:16699460|REF_RGD_ID:1582708|REF_RGD_ID:4145514 11995215 HMOX1 heme oxygenase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2806 D RGD:9068941 20200609 RGD protein:increased expression:serum, Bronchoalveolar Lavage Fluid PMID:19885035|REF_RGD_ID:4145338 11995215 HMOX1 heme oxygenase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12352873|PMID:16982915|PMID:17660127|PMID:17906103|PMID:23075401|PMID:25780291 11995215 HMOX1 heme oxygenase 1 gene DOID:9004237 Hyperoxic Lung Injury treatment ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:23475767|REF_RGD_ID:10755753 11995215 HMOX1 heme oxygenase 1 gene DOID:9004237 Hyperoxic Lung Injury treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23475767|REF_RGD_ID:10755753 11995215 HMOX1 heme oxygenase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24211270 11995215 HMOX1 heme oxygenase 1 gene DOID:9004610 Acute Lung Injury ISO RGD:2806 D RGD:9068941 20200609 RGD associated with Reperfusion Injury PMID:20850789|REF_RGD_ID:4145326 11995215 HMOX1 heme oxygenase 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:20360627|REF_RGD_ID:4140418 11995215 HMOX1 heme oxygenase 1 gene DOID:9004786 Carbon Tetrachloride Poisoning ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:24748974|REF_RGD_ID:10755718 11995215 HMOX1 heme oxygenase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15688187|PMID:18508827 11995215 HMOX1 heme oxygenase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16319139 11995215 HMOX1 heme oxygenase 1 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23215791|REF_RGD_ID:10755708 11995215 HMOX1 heme oxygenase 1 gene DOID:9005372 Inflammation ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12649161|PMID:16982915|PMID:23451061|PMID:29086419 11995215 HMOX1 heme oxygenase 1 gene DOID:9005526 Pulmonary Edema of Mountaineers ISO RGD:2806 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:21296072|REF_RGD_ID:10755745 11995215 HMOX1 heme oxygenase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:15734859|REF_RGD_ID:1582713 11995215 HMOX1 heme oxygenase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16123366|PMID:16959961|PMID:18375438|PMID:19804535 11995215 HMOX1 heme oxygenase 1 gene DOID:9005785 Altitude Sickness ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23537263|REF_RGD_ID:10755714 11995215 HMOX1 heme oxygenase 1 gene DOID:9005930 Endotoxemia treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:21396999|REF_RGD_ID:10755715 11995215 HMOX1 heme oxygenase 1 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:12230867|REF_RGD_ID:1598397 11995215 HMOX1 heme oxygenase 1 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:14587309|REF_RGD_ID:1598408 11995215 HMOX1 heme oxygenase 1 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:21291499|REF_RGD_ID:10755580 11995215 HMOX1 heme oxygenase 1 gene DOID:9006257 Growth Disorders ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9884342 11995215 HMOX1 heme oxygenase 1 gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:22193921|REF_RGD_ID:10763276 11995215 HMOX1 heme oxygenase 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18227147 11995215 HMOX1 heme oxygenase 1 gene DOID:9006827 Lung Reperfusion Injury ISO RGD:2806 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:21227458|REF_RGD_ID:10755577 11995215 HMOX1 heme oxygenase 1 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:2806 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23453443|PMID:23853776|REF_RGD_ID:10412713|REF_RGD_ID:9586347 11995215 HMOX1 heme oxygenase 1 gene DOID:9007096 Stroke ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:14753445|REF_RGD_ID:1598410 11995215 HMOX1 heme oxygenase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:15734859|REF_RGD_ID:1582713 11995215 HMOX1 heme oxygenase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11995215 HMOX1 heme oxygenase 1 gene DOID:9007102 Myocardial Ischemia susceptibility ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:15064108|REF_RGD_ID:1598399 11995215 HMOX1 heme oxygenase 1 gene DOID:9007188 Liver Neoplasms ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17002867 11995215 HMOX1 heme oxygenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18227147|PMID:22688006 11995215 HMOX1 heme oxygenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 11995215 HMOX1 heme oxygenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:22886620|PMID:29091898|REF_RGD_ID:10762620|REF_RGD_ID:15090820 11995215 HMOX1 heme oxygenase 1 gene DOID:9007692 Insulin Resistance ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18375438|PMID:19171794 11995215 HMOX1 heme oxygenase 1 gene DOID:9007692 Insulin Resistance ISO RGD:730901 D RGD:9068941 20200609 RGD mRNA:decreased expression:muscle:defective protection against oxidative stress PMID:12941774|REF_RGD_ID:1601621 11995215 HMOX1 heme oxygenase 1 gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:19362701|REF_RGD_ID:10766423 11995215 HMOX1 heme oxygenase 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:12709584|REF_RGD_ID:1598392 11995215 HMOX1 heme oxygenase 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:22179023|REF_RGD_ID:10755573 11995215 HMOX1 heme oxygenase 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:23921302|REF_RGD_ID:10755585 11995215 HMOX1 heme oxygenase 1 gene DOID:9008114 Helicobacter Infections ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:16100019|REF_RGD_ID:1598398 11995215 HMOX1 heme oxygenase 1 gene DOID:9008173 Paraparesis treatment ISO RGD:2806 D RGD:9068941 20200609 RGD associated with Lathyrism PMID:23068093|REF_RGD_ID:10766441 11995215 HMOX1 heme oxygenase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 11995215 HMOX1 heme oxygenase 1 gene DOID:9008996 Heme Oxygenase 1 Deficiency ISO RGD:730901 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Heme oxygenase 1 deficiency PMID:21088618|PMID:22023467|PMID:25741868|PMID:26526137|PMID:27662012|PMID:28492532|PMID:32587840|PMID:33066778|PMID:9884342 11995215 HMOX1 heme oxygenase 1 gene DOID:9008996 Heme Oxygenase 1 Deficiency susceptibility ISO RGD:730901 D RGD:7240710 20230505 OMIM 11995215 HMOX1 heme oxygenase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:2806 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, spleen PMID:19268504|REF_RGD_ID:10755700 11995215 HMOX1 heme oxygenase 1 gene DOID:9146 visceral leishmaniasis ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22461696 11995215 HMOX1 heme oxygenase 1 gene DOID:9146 visceral leishmaniasis treatment ISO RGD:730901 D RGD:9068941 20210312 RGD PMID:23729024|REF_RGD_ID:42724459 11995215 HMOX1 heme oxygenase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12136229|PMID:16123366|PMID:16959961 11995215 HMOX1 heme oxygenase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730901 D RGD:9068941 20200609 RGD DNA:repeat:promoter PMID:17991645|REF_RGD_ID:10755699 11995215 HMOX1 heme oxygenase 1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:2806 D RGD:9068941 20200609 RGD associated with Obesity PMID:23731386|REF_RGD_ID:8695927 11995215 HMOX1 heme oxygenase 1 gene DOID:9675 pulmonary emphysema ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10631150 11995215 HMOX1 heme oxygenase 1 gene DOID:9675 pulmonary emphysema susceptibility ISO RGD:730901 D RGD:9068941 20200609 RGD DNA:allele:promoter:L allele of the (GT)n repeat (>30 repeats) PMID:10631150|REF_RGD_ID:1601606 11995215 HMOX1 heme oxygenase 1 gene DOID:9970 obesity ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18334666|PMID:18375438|PMID:19171794 11995224 LRIT2 leucine rich repeat, Ig-like and transmembrane domains 2 gene DOID:630 genetic disease ISO RGD:1352534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995233 PANX1 pannexin 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:735204 D RGD:9068941 20200609 RGD PMID:31630543|REF_RGD_ID:14995937 11995233 PANX1 pannexin 1 gene DOID:1059 intellectual disability ISO RGD:1347653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11995233 PANX1 pannexin 1 gene DOID:630 genetic disease ISO RGD:1347653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995233 PANX1 pannexin 1 gene DOID:9004590 Acute Liver Failure ISO RGD:1347653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29246445 11995233 PANX1 pannexin 1 gene DOID:9004707 Massive Hepatic Necrosis ISO RGD:1347653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29246445 11995233 PANX1 pannexin 1 gene DOID:9005028 Oocyte Maturation Defect 7 ISO RGD:1347653 D RGD:7240710 20190911 OMIM 11995233 PANX1 pannexin 1 gene DOID:9005028 Oocyte Maturation Defect 7 ISO RGD:1347653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 7 PMID:25741868|PMID:30918116 11995233 PANX1 pannexin 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1347653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29246445 11995242 NCKAP1 NCK associated protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11995242 NCKAP1 NCK associated protein 1 gene DOID:1059 intellectual disability ISO RGD:732467 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intellectual disability 11995242 NCKAP1 NCK associated protein 1 gene DOID:12849 autistic disorder ISO RGD:732467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868 11995242 NCKAP1 NCK associated protein 1 gene DOID:630 genetic disease ISO RGD:732467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995242 NCKAP1 NCK associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732467 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: NCKAP1-Related Disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33157009 11995242 NCKAP1 NCK associated protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:732467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741875 11995279 DPP10 dipeptidyl peptidase like 10 gene DOID:0060041 autism spectrum disorder ISO RGD:1315036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18252227 11995279 DPP10 dipeptidyl peptidase like 10 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1315036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11995279 DPP10 dipeptidyl peptidase like 10 gene DOID:2841 asthma ISO RGD:1306427 D RGD:9068941 20200609 RGD protein:increased expression:bronchus PMID:17967935|REF_RGD_ID:4892278 11995279 DPP10 dipeptidyl peptidase like 10 gene DOID:2841 asthma ISO RGD:1315036 D RGD:9068941 20200609 RGD DNA:SNP: :rs10208402 (human) PMID:19672052|REF_RGD_ID:4892275 11995279 DPP10 dipeptidyl peptidase like 10 gene DOID:2841 asthma ISO RGD:1315036 D RGD:9068941 20200609 RGD DNA:SNP:exon (human) PMID:14566338|REF_RGD_ID:4892276 11995279 DPP10 dipeptidyl peptidase like 10 gene DOID:2841 asthma ISO RGD:1315036 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:21103062|REF_RGD_ID:4889866 11995279 DPP10 dipeptidyl peptidase like 10 gene DOID:5419 schizophrenia ISO RGD:1315036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11995279 DPP10 dipeptidyl peptidase like 10 gene DOID:630 genetic disease ISO RGD:1315036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995279 DPP10 dipeptidyl peptidase like 10 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1315036 D RGD:9068941 20200609 RGD PMID:19951440|REF_RGD_ID:4892274 11995279 DPP10 dipeptidyl peptidase like 10 gene DOID:9007188 Liver Neoplasms ISO RGD:1315036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11995306 FRMD8 FERM domain containing 8 gene DOID:1059 intellectual disability ISO RGD:1602672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11995306 FRMD8 FERM domain containing 8 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602672 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11995306 FRMD8 FERM domain containing 8 gene DOID:2746 glycogen storage disease V ISO RGD:1602672 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11995306 FRMD8 FERM domain containing 8 gene DOID:3070 high grade glioma ISO RGD:1602672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11995306 FRMD8 FERM domain containing 8 gene DOID:630 genetic disease ISO RGD:1602672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995306 FRMD8 FERM domain containing 8 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1602672 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11995306 FRMD8 FERM domain containing 8 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1602672 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11995328 EMD emerin gene DOID:0050454 periventricular nodular heterotopia ISO RGD:735605 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:18854860|PMID:19396829|PMID:19846429|PMID:20730588|PMID:20871226|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11995328 EMD emerin gene DOID:0050476 Barth syndrome ISO RGD:735605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11995328 EMD emerin gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:735605 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:25741868|PMID:32860008 11995328 EMD emerin gene DOID:0050700 cardiomyopathy ISO RGD:735605 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:19377476|PMID:20474083|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26467025|PMID:26820365|PMID:28492532|PMID:29961767|PMID:31024910 11995328 EMD emerin gene DOID:0050800 creatine transporter deficiency ISO RGD:735605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11995328 EMD emerin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11995328 EMD emerin gene DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 ISO RGD:735605 D RGD:7240710 20180912 OMIM 11995328 EMD emerin gene DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures PMID:10323252|PMID:10382909|PMID:10382910|PMID:10393813|PMID:10399752|PMID:10480214|PMID:11385714|PMID:15967842|PMID:16080119|PMID:16199547|PMID:17067998|PMID:17355552|PMID:17576681|PMID:17620497|PMID:18646565|PMID:19997654|PMID:20474083|PMID:21496632|PMID:21520333|PMID:21697856|PMID:23169761|PMID:23349452|PMID:23395478|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24375709|PMID:24503780|PMID:25030574|PMID:25210889|PMID:25741868|PMID:26187847|PMID:26247046|PMID:26415001|PMID:26467025|PMID:26675233|PMID:26899768|PMID:28492532|PMID:31185657|PMID:31474437|PMID:31475473|PMID:32860008|PMID:34524739|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:8655156|PMID:9195226|PMID:9266737|PMID:9384614|PMID:9472006|PMID:9536090|PMID:9536098 11995328 EMD emerin gene DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 ISO RGD:735605 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked | ClinVar Annotator: match by term: Muscular dystrophy, tardive Emery-Dreifuss type, with contractures | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures PMID:12872622|PMID:17576681|PMID:17620497|PMID:19377476|PMID:20474083|PMID:21496632|PMID:21520333|PMID:21697856|PMID:21993399|PMID:23395478|PMID:24033266|PMID:24365856|PMID:24503780|PMID:25741868|PMID:26467025|PMID:26820365|PMID:26899768|PMID:27854218|PMID:28492532|PMID:29961767|PMID:30079154|PMID:30763825|PMID:30847666|PMID:31024910|PMID:31185657|PMID:31718017|PMID:8595406|PMID:9536098 11995328 EMD emerin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 11995328 EMD emerin gene DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J ISO RGD:735605 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:24033266|PMID:27854218|PMID:28492532 11995328 EMD emerin gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868 11995328 EMD emerin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868 11995328 EMD emerin gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:735605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 11995328 EMD emerin gene DOID:0112003 immunodeficiency 33 ISO RGD:735605 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11995328 EMD emerin gene DOID:10588 adrenoleukodystrophy ISO RGD:735605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11995328 EMD emerin gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735605 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10323252|PMID:10382909|PMID:10393813|PMID:10399752|PMID:10428430|PMID:10480214|PMID:11385714|PMID:1178008|PMID:15967842|PMID:16080119|PMID:17067998|PMID:17355552|PMID:17576681|PMID:18646565|PMID:19345147|PMID:1998333|PMID:20474083|PMID:21496632|PMID:21697856|PMID:23169761|PMID:23349452|PMID:23395478|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24503780|PMID:25741868|PMID:26187847|PMID:26415001|PMID:26467025|PMID:26675233|PMID:26899768|PMID:28492532|PMID:31185657|PMID:31474437|PMID:32860008|PMID:34524739|PMID:7294729|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:8655156|PMID:9384614|PMID:9472006|PMID:9536090|PMID:9536098 11995328 EMD emerin gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735605 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10323252|PMID:10382909|PMID:10393813|PMID:10399752|PMID:10428430|PMID:10480214|PMID:11385714|PMID:1178008|PMID:15967842|PMID:16080119|PMID:17067998|PMID:17355552|PMID:17576681|PMID:18646565|PMID:19345147|PMID:1998333|PMID:20474083|PMID:21496632|PMID:21697856|PMID:23169761|PMID:23349452|PMID:23395478|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24503780|PMID:25741868|PMID:26187847|PMID:26415001|PMID:26467025|PMID:26675233|PMID:26820365|PMID:26899768|PMID:28492532|PMID:29961767|PMID:31024910|PMID:31185657|PMID:31474437|PMID:32860008|PMID:34524739|PMID:7294729|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:8655156|PMID:9384614|PMID:9472006|PMID:9536090|PMID:9536098 11995328 EMD emerin gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10220866|PMID:10323252|PMID:10382909|PMID:10382910|PMID:10393813|PMID:10399752|PMID:10428430|PMID:10480214|PMID:10874323|PMID:11385714|PMID:11587540|PMID:11748843|PMID:1178008|PMID:11968085|PMID:12872622|PMID:15328537|PMID:15967842|PMID:16080119|PMID:16199547|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17067998|PMID:17355552|PMID:17576681|PMID:17620497|PMID:18646565|PMID:19377476|PMID:19396829|PMID:19846429|PMID:1998333|PMID:19997654|PMID:20474083|PMID:20730588|PMID:21496632|PMID:21520333|PMID:21697856|PMID:21993399|PMID:22281021|PMID:22382802|PMID:23169761|PMID:23349452|PMID:23395478|PMID:23409742|PMID:23660394|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24375709|PMID:24503780|PMID:24962355|PMID:25030574|PMID:25210889|PMID:25741868|PMID:26187847|PMID:26247046|PMID:26415001|PMID:26467025|PMID:26471271|PMID:26675233|PMID:26820365|PMID:26899768|PMID:28492532|PMID:29334594|PMID:29349559|PMID:29961767|PMID:30079154|PMID:30763825|PMID:30847666|PMID:31024910|PMID:31185657|PMID:31474437|PMID:31475473|PMID:31645980|PMID:31718017|PMID:32860008|PMID:32880476|PMID:33124102|PMID:34026875|PMID:34524739|PMID:7294729|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:8655156|PMID:9195226|PMID:9266737|PMID:9384614|PMID:9472006|PMID:9536090|PMID:9536098 11995328 EMD emerin gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735605 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10220866|PMID:10323252|PMID:10382909|PMID:10382910|PMID:10393813|PMID:10399752|PMID:10428430|PMID:10480214|PMID:10874323|PMID:11385714|PMID:11587540|PMID:11748843|PMID:1178008|PMID:11968085|PMID:12872622|PMID:15328537|PMID:15967842|PMID:16080119|PMID:16199547|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17067998|PMID:17355552|PMID:17576681|PMID:17620497|PMID:18646565|PMID:19377476|PMID:19396829|PMID:19846429|PMID:1998333|PMID:19997654|PMID:20474083|PMID:20730588|PMID:21496632|PMID:21520333|PMID:21697856|PMID:21993399|PMID:22281021|PMID:22382802|PMID:23169761|PMID:23349452|PMID:23395478|PMID:23409742|PMID:23660394|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24375709|PMID:24503780|PMID:24962355|PMID:25030574|PMID:25210889|PMID:25741868|PMID:26187847|PMID:26247046|PMID:26415001|PMID:26467025|PMID:26471271|PMID:26675233|PMID:26820365|PMID:26899768|PMID:27854218|PMID:28492532|PMID:29334594|PMID:29349559|PMID:29961767|PMID:30079154|PMID:30763825|PMID:30847666|PMID:31024910|PMID:31185657|PMID:31474437|PMID:31475473|PMID:31645980|PMID:31718017|PMID:32860008|PMID:32880476|PMID:33124102|PMID:34026875|PMID:34524739|PMID:7294729|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:8655156|PMID:9195226|PMID:9266737|PMID:9384614|PMID:9472006|PMID:9536090|PMID:9536098 11995328 EMD emerin gene DOID:12849 autistic disorder ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11995328 EMD emerin gene DOID:12930 dilated cardiomyopathy ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy 11995328 EMD emerin gene DOID:13628 favism ISO RGD:735605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11995328 EMD emerin gene DOID:2729 dyskeratosis congenita ISO RGD:735605 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11995328 EMD emerin gene DOID:423 myopathy ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 11995328 EMD emerin gene DOID:440 neuromuscular disease ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:10382909|PMID:10428430|PMID:1178008|PMID:18646565|PMID:1998333|PMID:21697856|PMID:24033266|PMID:7294729|PMID:8595407 11995328 EMD emerin gene DOID:607 paraplegia ISO RGD:735605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11995328 EMD emerin gene DOID:9002720 Splenomegaly ISO RGD:735605 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11995329 LPXN leupaxin gene DOID:1059 intellectual disability ISO RGD:1312734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11995329 LPXN leupaxin gene DOID:630 genetic disease ISO RGD:1312734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995329 LPXN leupaxin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11995363 PAPA-C class I histocompatibility antigen, Gogo-C*0203 alpha chain gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1343149 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:19629158 11995363 PAPA-C class I histocompatibility antigen, Gogo-C*0203 alpha chain gene DOID:0050553 JMP syndrome ISO RGD:1343149 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11995363 PAPA-C class I histocompatibility antigen, Gogo-C*0203 alpha chain gene DOID:0080600 COVID-19 ISO RGD:1343149 D RGD:9068941 20230427 RGD DNA:polymorphism:cds:HLA-C*07:29 (human) PMID:32424945|REF_RGD_ID:32716370 11995363 PAPA-C class I histocompatibility antigen, Gogo-C*0203 alpha chain gene DOID:0080600 COVID-19 ISO RGD:1343149 D RGD:9068941 20230427 RGD mRNA:decreased expression:CD14 monocytes (human) PMID:32377375|REF_RGD_ID:32716422 11995363 PAPA-C class I histocompatibility antigen, Gogo-C*0203 alpha chain gene DOID:0111286 psoriasis 1 susceptibility ISO RGD:1343149 D RGD:7240710 20230505 OMIM 11995363 PAPA-C class I histocompatibility antigen, Gogo-C*0203 alpha chain gene DOID:11372 megacolon ISO RGD:1343149 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11995363 PAPA-C class I histocompatibility antigen, Gogo-C*0203 alpha chain gene DOID:3070 high grade glioma ISO RGD:1343149 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:14511464 11995363 PAPA-C class I histocompatibility antigen, Gogo-C*0203 alpha chain gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1343149 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: HIV-1 viremia, susceptibility to PMID:19935663 11995363 PAPA-C class I histocompatibility antigen, Gogo-C*0203 alpha chain gene DOID:526 human immunodeficiency virus infectious disease susceptibility ISO RGD:1343149 D RGD:7240710 20230505 OMIM 11995363 PAPA-C class I histocompatibility antigen, Gogo-C*0203 alpha chain gene DOID:8893 psoriasis ISO RGD:1343149 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:19169254|PMID:20953190 11995363 PAPA-C class I histocompatibility antigen, Gogo-C*0203 alpha chain gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1343149 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:19629158 11995363 PAPA-C class I histocompatibility antigen, Gogo-C*0203 alpha chain gene DOID:9008 psoriatic arthritis ISO RGD:1343149 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:20953186 11995363 PAPA-C class I histocompatibility antigen, Gogo-C*0203 alpha chain gene DOID:9008163 Chronic Hepatitis B ISO RGD:1343149 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:24162738 11995363 PAPA-C class I histocompatibility antigen, Gogo-C*0203 alpha chain gene DOID:9415 allergic asthma susceptibility ISO RGD:1343149 D RGD:9068941 20230427 RGD DNA:polymorphism: PMID:28380482|REF_RGD_ID:13506910 11995380 DGCR8 DGCR8 microprocessor complex subunit gene DOID:0060041 autism spectrum disorder ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11995380 DGCR8 DGCR8 microprocessor complex subunit gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1314941 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 11995380 DGCR8 DGCR8 microprocessor complex subunit gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1314941 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 11995380 DGCR8 DGCR8 microprocessor complex subunit gene DOID:1059 intellectual disability ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11995380 DGCR8 DGCR8 microprocessor complex subunit gene DOID:11198 DiGeorge syndrome ISO RGD:1314941 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 11995380 DGCR8 DGCR8 microprocessor complex subunit gene DOID:11372 megacolon ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11995380 DGCR8 DGCR8 microprocessor complex subunit gene DOID:12583 velocardiofacial syndrome ISO RGD:1314941 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 11995380 DGCR8 DGCR8 microprocessor complex subunit gene DOID:12849 autistic disorder ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11995380 DGCR8 DGCR8 microprocessor complex subunit gene DOID:150 disease of mental health ISO RGD:1314941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18469815 11995380 DGCR8 DGCR8 microprocessor complex subunit gene DOID:1826 epilepsy ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11995380 DGCR8 DGCR8 microprocessor complex subunit gene DOID:2154 nephroblastoma ISO RGD:1314941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 11995380 DGCR8 DGCR8 microprocessor complex subunit gene DOID:2213 hemorrhagic disease ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 11995380 DGCR8 DGCR8 microprocessor complex subunit gene DOID:5419 schizophrenia ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11995380 DGCR8 DGCR8 microprocessor complex subunit gene DOID:612 primary immunodeficiency disease ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 11995380 DGCR8 DGCR8 microprocessor complex subunit gene DOID:630 genetic disease ISO RGD:1314941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995380 DGCR8 DGCR8 microprocessor complex subunit gene DOID:9003871 Venous Thrombosis ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 11995380 DGCR8 DGCR8 microprocessor complex subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11995380 DGCR8 DGCR8 microprocessor complex subunit gene DOID:9007661 Dwarfism ISO RGD:1314941 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11995397 TAMALIN trafficking regulator and scaffold protein tamalin gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:733545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 11995397 TAMALIN trafficking regulator and scaffold protein tamalin gene DOID:630 genetic disease ISO RGD:733545 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995414 HDLBP high density lipoprotein binding protein gene DOID:0080600 COVID-19 ISO RGD:732166 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11995414 HDLBP high density lipoprotein binding protein gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:732166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11995414 HDLBP high density lipoprotein binding protein gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:732166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11995414 HDLBP high density lipoprotein binding protein gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:732166 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11995414 HDLBP high density lipoprotein binding protein gene DOID:1059 intellectual disability ISO RGD:732166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11995414 HDLBP high density lipoprotein binding protein gene DOID:12849 autistic disorder ISO RGD:732166 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19365831 11995414 HDLBP high density lipoprotein binding protein gene DOID:630 genetic disease ISO RGD:732166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995414 HDLBP high density lipoprotein binding protein gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:732166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11995414 HDLBP high density lipoprotein binding protein gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:732166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11995414 HDLBP high density lipoprotein binding protein gene DOID:9008192 Neoplastic Processes ISO RGD:732166 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25129143 11995458 GMFB glia maturation factor beta gene DOID:0090043 dystonia 5 ISO RGD:735553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia 5 PMID:17111153|PMID:19332422|PMID:19491146|PMID:25557619|PMID:28492532|PMID:9667588 11995458 GMFB glia maturation factor beta gene DOID:0111805 syndromic microphthalmia 6 ISO RGD:735553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies PMID:18252212|PMID:21340693|PMID:28492532 11995458 GMFB glia maturation factor beta gene DOID:630 genetic disease ISO RGD:735553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995469 SYNJ2BP synaptojanin 2 binding protein gene DOID:630 genetic disease ISO RGD:736800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995477 RBSN rabenosyn, RAB effector gene DOID:0060417 3p deletion syndrome ISO RGD:1313404 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 11995477 RBSN rabenosyn, RAB effector gene DOID:630 genetic disease ISO RGD:1313404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995509 TRNT1 tRNA nucleotidyl transferase 1 gene DOID:0080209 sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay ISO RGD:1318871 D RGD:7240710 20180130 OMIM 11995509 TRNT1 tRNA nucleotidyl transferase 1 gene DOID:0080209 sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay ISO RGD:1318871 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay PMID:16199547|PMID:17576681|PMID:24033266|PMID:25193871|PMID:25652405|PMID:25741868|PMID:2649490|PMID:26494905|PMID:27370603|PMID:27389523|PMID:27531075|PMID:28492532|PMID:29055896|PMID:29358286|PMID:29454993|PMID:29610179|PMID:30758723|PMID:31019026|PMID:31338833|PMID:31664448|PMID:32371413|PMID:32592741|PMID:33332575|PMID:33646446|PMID:33936027|PMID:34510712|PMID:9536098 11995509 TRNT1 tRNA nucleotidyl transferase 1 gene DOID:0081178 autosomal recessive intellectual developmental disorder 2 ISO RGD:1318871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 2 PMID:10932263|PMID:15557513|PMID:18414909|PMID:23983124|PMID:24088041|PMID:24993823|PMID:26633545|PMID:28143899|PMID:28492532 11995509 TRNT1 tRNA nucleotidyl transferase 1 gene DOID:630 genetic disease ISO RGD:1318871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25652405|PMID:25741868|PMID:27389523|PMID:27531075|PMID:28492532|PMID:29358286|PMID:30758723 11995509 TRNT1 tRNA nucleotidyl transferase 1 gene DOID:9002040 RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS ISO RGD:1318871 D RGD:7240710 20190315 OMIM 11995509 TRNT1 tRNA nucleotidyl transferase 1 gene DOID:9002040 RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS ISO RGD:1318871 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and erythrocytic microcytosis PMID:24033266|PMID:25193871|PMID:25652405|PMID:25741868|PMID:26494905|PMID:27389523|PMID:27531075|PMID:28492532|PMID:29358286|PMID:29610179|PMID:30758723|PMID:31338833|PMID:31664448|PMID:32371413|PMID:32592741|PMID:33332575|PMID:33646446|PMID:34510712 11995509 TRNT1 tRNA nucleotidyl transferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11995509 TRNT1 tRNA nucleotidyl transferase 1 gene DOID:9538 multiple myeloma ISO RGD:1318871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11995534 TBC1D10A TBC1 domain family member 10A gene DOID:630 genetic disease ISO RGD:1605322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995547 DDX53 DEAD-box helicase 53 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11995547 DDX53 DEAD-box helicase 53 gene DOID:1184 nephrotic syndrome ISO RGD:1604977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:29127259 11995547 DDX53 DEAD-box helicase 53 gene DOID:12849 autistic disorder ISO RGD:1604977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11995547 DDX53 DEAD-box helicase 53 gene DOID:630 genetic disease ISO RGD:1604977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995547 DDX53 DEAD-box helicase 53 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1347215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:0080207 CAKUT2 treatment ISO RGD:1347215 D RGD:9068941 20200609 RGD PMID:27448803|REF_RGD_ID:13204792 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:0080600 COVID-19 ISO RGD:1347215 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1347215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1347215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1347215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1347215 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:10588 adrenoleukodystrophy severity ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:23185624|REF_RGD_ID:13204814 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:10591 pre-eclampsia ISO RGD:1347215 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:placenta PMID:17083831|REF_RGD_ID:2290399 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:10763 hypertension ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21051829 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:10763 hypertension ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus PMID:19506087|REF_RGD_ID:2312464 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:10763 hypertension ISO RGD:621675 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:17977875|REF_RGD_ID:2290351 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:10808 gastric ulcer ISO RGD:621675 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach PMID:15375341|REF_RGD_ID:10043177 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:10941 intracranial aneurysm ISO RGD:621675 D RGD:9068941 20200609 RGD PMID:17569872|REF_RGD_ID:2290352 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:114 heart disease ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23558518 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:114 heart disease ISO RGD:621675 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:heart PMID:19134282|REF_RGD_ID:2312465 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:12849 autistic disorder ISO RGD:1347215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:13378 Kawasaki disease ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:12626459|REF_RGD_ID:1580170 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:13580 cholestasis ISO RGD:621675 D RGD:9068941 20200609 RGD PMID:8707259|REF_RGD_ID:2290364 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:13619 extrahepatic cholestasis ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:decreased expression:aorta (human) PMID:16820601|REF_RGD_ID:1582351 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:14250 Down syndrome ISO RGD:1347215 D RGD:9068941 20200609 RGD PMID:24519975|REF_RGD_ID:13204810 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:1485 cystic fibrosis ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:25545245|REF_RGD_ID:13204794 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:1612 breast cancer disease_progression ISO RGD:1347215 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:breast PMID:17114213|PMID:17478562|REF_RGD_ID:2290345|REF_RGD_ID:2290348 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:1612 breast cancer disease_progression ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18172859|REF_RGD_ID:2290343 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:178 vascular disease ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569694 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:178 vascular disease ISO RGD:621675 D RGD:9068941 20200609 RGD PMID:17569694|REF_RGD_ID:2290353 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:182 calcinosis ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:1936 atherosclerosis ameliorates ISO RGD:731433 D RGD:9068941 20230330 RGD PMID:31757932|REF_RGD_ID:242905202 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:2006 preretinal fibrosis ISO RGD:1347215 D RGD:9068941 20200609 RGD PMID:11004090|REF_RGD_ID:2312481 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:2378 relapsing-remitting multiple sclerosis treatment ISO RGD:1347215 D RGD:9068941 20200609 RGD PMID:16412833|REF_RGD_ID:13204825 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17695443|REF_RGD_ID:2298520 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16901349|REF_RGD_ID:2290349 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:12487935|REF_RGD_ID:2298523 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:621675 D RGD:9068941 20200609 RGD PMID:25842729|REF_RGD_ID:13207319 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21468558 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:621675 D RGD:9068941 20200609 RGD PMID:23318412|REF_RGD_ID:13204970 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:4079 heart valve disease ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:417 autoimmune disease ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:11595703|REF_RGD_ID:2290350 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:57 aortic valve insufficiency ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:5773 oral submucous fibrosis ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:6000 congestive heart failure ISO RGD:621675 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle PMID:10773234|REF_RGD_ID:2290467 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:630 genetic disease ISO RGD:1347215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:799 varicose veins ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17643059 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:893 Wilson disease ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26241054 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:90 degenerative disc disease treatment ISO RGD:621675 D RGD:9068941 20200609 RGD associated with Renal Insufficiency PMID:19063844|REF_RGD_ID:10043178 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1347215 D RGD:9068941 20200609 RGD associated with Endometrial Neoplasms;protein:increased expression:endometrium PMID:12487935|REF_RGD_ID:2298523 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1347215 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:increased expression:plasma PMID:17407159|REF_RGD_ID:2290346 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9000998 Brain Injuries ISO RGD:621675 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, astrocytes PMID:10719361|REF_RGD_ID:2290468 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16507762|PMID:16718785|PMID:16762003|PMID:21163135|PMID:25380136 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621675 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:8707259|REF_RGD_ID:2290364 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9001600 Wounds and Injuries ISO RGD:621675 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:dorsal root ganglion PMID:16683235|REF_RGD_ID:1600154 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9002739 Female Urogenital Diseases ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9002884 Emphysema treatment ISO RGD:621675 D RGD:9068941 20200609 RGD PMID:22633097|REF_RGD_ID:13207325 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1318976 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9005372 Inflammation ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569694 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21963884 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1347215 D RGD:9068941 20200609 RGD PMID:17192464|REF_RGD_ID:2312467 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621675 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17569353|REF_RGD_ID:2290354 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9006205 Animal Disease Models ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21051829 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9007096 Stroke ISO RGD:621675 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:9472898|REF_RGD_ID:2290356 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9007480 Hyperoxia ISO RGD:621675 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15128910|REF_RGD_ID:8547972 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:731433 D RGD:9068941 20200609 RGD PMID:24739303|REF_RGD_ID:13204791 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9351 diabetes mellitus ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus PMID:19506087|REF_RGD_ID:2312464 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023759 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16005367|REF_RGD_ID:1580148 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9446 cholangitis ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17020653|REF_RGD_ID:2312468 11995552 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9970 obesity ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17512313|REF_RGD_ID:1642026 11995562 CD84 CD84 molecule gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1349028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 11995562 CD84 CD84 molecule gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1349028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11995562 CD84 CD84 molecule gene DOID:1540 parathyroid carcinoma ISO RGD:1349028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11995562 CD84 CD84 molecule gene DOID:630 genetic disease ISO RGD:1349028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995562 CD84 CD84 molecule gene DOID:9003281 Spontaneous Abortions ISO RGD:1349028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11995562 CD84 CD84 molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11995589 ISOC1 isochorismatase domain containing 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347473 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11995589 ISOC1 isochorismatase domain containing 1 gene DOID:630 genetic disease ISO RGD:1347473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995589 ISOC1 isochorismatase domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11995589 ISOC1 isochorismatase domain containing 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347473 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11995598 MRPL54 mitochondrial ribosomal protein L54 gene DOID:13938 amenorrhea ISO RGD:1313872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11995598 MRPL54 mitochondrial ribosomal protein L54 gene DOID:630 genetic disease ISO RGD:1313872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995605 ZNF691 zinc finger protein 691 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11995605 ZNF691 zinc finger protein 691 gene DOID:630 genetic disease ISO RGD:1603045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995621 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:0050460 Wolf-Hirschhorn syndrome ISO RGD:1317450 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mental retardation, unusual facies, and intrauterine growth retardation | ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome PMID:11252005|PMID:25741868|PMID:28492532|PMID:29760529|PMID:29892088|PMID:30345613 11995621 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:0060058 lymphoma ISO RGD:1317450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoma PMID:25741868 11995621 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:10907 microcephaly ISO RGD:1317450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11995621 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:11514 fissured tongue ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Plicated tongue PMID:25741868 11995621 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:11836 clubfoot ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY PMID:25741868 11995621 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868 11995621 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:1588 thrombocytopenia ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868 11995621 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:1657 ventricular septal defect ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:25741868 11995621 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:1856 cherubism ISO RGD:1317450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11995621 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:2355 anemia ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anemia PMID:25741868 11995621 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1317450 D RGD:9068941 20221117 RGD PMID:34551195|REF_RGD_ID:155663369 11995621 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1319911 D RGD:9068941 20230218 RGD PMID:34551195|REF_RGD_ID:155663369 11995621 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:630 genetic disease ISO RGD:1317450 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25188243|PMID:28492532 11995621 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:9001031 Retrognathia ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: retrognathism PMID:25741868 11995621 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:9001308 Wittwer Syndrome ISO RGD:1317450 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Wittwer syndrome PMID:11252005|PMID:25741868|PMID:28492532|PMID:29760529|PMID:29892088|PMID:30345613 11995621 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:9003104 Intracranial Hemorrhages ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intracranial Hemorrhages PMID:25741868 11995621 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:9004360 RAUCH-STEINDL SYNDROME ISO RGD:1317450 D RGD:7240710 20220330 OMIM 11995621 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:9004360 RAUCH-STEINDL SYNDROME ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Rauch-Steindl syndrome PMID:25741868|PMID:28492532|PMID:29760529|PMID:29892088|PMID:31382906|PMID:33276791|PMID:33941880 11995621 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317450 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33941880 11995621 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:9005078 Congenital Macroglossia ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Giant tongue PMID:25741868 11995621 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:9005369 Hepatomegaly ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatomegaly PMID:25741868 11995621 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1317450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24076604 11995621 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:9007817 Macroglossia ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Macroglossia PMID:25741868 11995621 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1317450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24874954 11995621 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1317450 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24076604 11995621 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:9993 hypoglycemia ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypoglycemia PMID:25741868 11995661 FAM24A family with sequence similarity 24 member A gene DOID:2340 craniosynostosis ISO RGD:1342610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 11995661 FAM24A family with sequence similarity 24 member A gene DOID:630 genetic disease ISO RGD:1342610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995673 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:0080763 diffuse gastric cancer severity ISO RGD:733801 D RGD:9068941 20220114 RGD DNA:SNP:enhancer: (rs889312) (human) PMID:24759887|REF_RGD_ID:150573718 11995673 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:0111769 46,XY sex reversal 6 ISO RGD:733801 D RGD:7240710 20180130 OMIM 11995673 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:0111769 46,XY sex reversal 6 ISO RGD:733801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 6 PMID:11242112|PMID:12476449|PMID:20301714|PMID:21129722|PMID:24135036|PMID:24497709|PMID:25326637|PMID:25383892|PMID:25741868|PMID:27899157|PMID:28492532|PMID:28504475|PMID:30608580|PMID:30872814|PMID:32985417|PMID:5419329 11995673 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:733801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 11995673 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:10534 stomach cancer exacerbates ISO RGD:733801 D RGD:9068941 20220114 RGD DNA:SNP:enhancer: (rs889312) (human) PMID:31686841|REF_RGD_ID:150573716 11995673 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:10534 stomach cancer susceptibility ISO RGD:733801 D RGD:9068941 20220114 RGD DNA:SNP:intron:g.56206570C>G (rs16886448) (human) PMID:23042672|REF_RGD_ID:150573715 11995673 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:1612 breast cancer ISO RGD:733801 D RGD:9068941 20200609 RGD DNA:SNP:linkage disequilibrium block:minor allele of SNP rs889312, p=7x10e-20 PMID:17529967|REF_RGD_ID:2289657 11995673 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:1612 breast cancer ISO RGD:733801 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:increased expression in luminal A and normal-like vs other molecular subtypes, (p=5.2x10e-5) PMID:18036273|REF_RGD_ID:2293356 11995673 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:1612 breast cancer disease_progression ISO RGD:733801 D RGD:9068941 20200609 RGD DNA:SNP:linkage disequilibrium block:minor allele associated with reduced risk of lymph node involvement at diagnosis (p=0.044) PMID:17997823|REF_RGD_ID:2293357 11995673 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:1923 disorder of sexual development ISO RGD:733801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 11995673 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:1993 rectum cancer susceptibility ISO RGD:733801 D RGD:9068941 20220114 RGD DNA:SNP:intron: (rs43184) (human) PMID:23859041|REF_RGD_ID:150573807 11995673 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:1993 rectum cancer treatment ISO RGD:733801 D RGD:9068941 20220114 RGD DNA:SNP:intron: (rs2548663) (human) PMID:23027623|REF_RGD_ID:13217411 11995673 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:3748 esophagus squamous cell carcinoma sexual_dimorphism ISO RGD:733801 D RGD:9068941 20220114 RGD DNA:missense mutation, SNP:CDS, exon 14, 3'-UTR: (rs702689,rs702688) (human) PMID:32753933|REF_RGD_ID:150573717 11995673 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:733801 D RGD:9068941 20220114 RGD DNA:SNPs:5'-UTR, intron 1: (rs17661089, rs16886403, rs726501) (human) PMID:21636554|REF_RGD_ID:150573805 11995673 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:630 genetic disease ISO RGD:733801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28504475 11995673 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:733801 D RGD:9068941 20220114 RGD mRNA:decreased expression:liver (human) PMID:31310010|REF_RGD_ID:150573714 11995673 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 11995673 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms 11995673 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11995673 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:9004538 Hearing Loss ISO RGD:733801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30872814 11995673 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:733801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17529967 11995673 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:9009121 lung metastasis ameliorates ISO RGD:733802 D RGD:9068941 20220114 RGD associated with breast carcinoma PMID:16568086|REF_RGD_ID:150573808 11995701 TOR1A torsin family 1 member A gene DOID:0050836 focal dystonia ISO RGD:1615931 D RGD:9068941 20220825 MouseDO 11995701 TOR1A torsin family 1 member A gene DOID:0060730 torsion dystonia 1 ISO RGD:1345813 D RGD:7240710 20200610 OMIM 11995701 TOR1A torsin family 1 member A gene DOID:0060730 torsion dystonia 1 ISO RGD:1345813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia 1, torsion, autosomal dominant | ClinVar Annotator: match by term: Dystonia-1, torsion PMID:11523564|PMID:12391338|PMID:12391355|PMID:12402271|PMID:17503336|PMID:18477710|PMID:18519876|PMID:19955557|PMID:24033266|PMID:24930953|PMID:24931141|PMID:25741868|PMID:27168150|PMID:27477622|PMID:28492532|PMID:30244176|PMID:32243914|PMID:34008892|PMID:34298581|PMID:9288096 11995701 TOR1A torsin family 1 member A gene DOID:0070073 autosomal dominant intellectual developmental disorder 43 ISO RGD:1345813 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 43 PMID:25741868|PMID:30244176|PMID:34008892 11995701 TOR1A torsin family 1 member A gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1345813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11995701 TOR1A torsin family 1 member A gene DOID:0080047 pseudoachondroplasia ISO RGD:1345813 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome PMID:25741868 11995701 TOR1A torsin family 1 member A gene DOID:0080981 arthrogryposis multiplex congenita-5 ISO RGD:1345813 D RGD:7240710 20200812 OMIM 11995701 TOR1A torsin family 1 member A gene DOID:0080981 arthrogryposis multiplex congenita-5 ISO RGD:1345813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 5 PMID:11523564|PMID:17503336|PMID:18519876|PMID:18827015|PMID:25741868|PMID:28492532|PMID:28516161|PMID:29053766|PMID:30244176|PMID:34008892|PMID:9288096 11995701 TOR1A torsin family 1 member A gene DOID:543 dystonia ISO RGD:1345813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonia 1 | ClinVar Annotator: match by term: Dystonic disorder PMID:11523564|PMID:12391338|PMID:12391355|PMID:12402271|PMID:17503336|PMID:17576681|PMID:18477710|PMID:18519876|PMID:19955557|PMID:24033266|PMID:24930953|PMID:24931141|PMID:25741868|PMID:27168150|PMID:27477622|PMID:28166811|PMID:28492532|PMID:30244176|PMID:32243914|PMID:34008892|PMID:34298581|PMID:9288096|PMID:9536098 11995701 TOR1A torsin family 1 member A gene DOID:630 genetic disease ISO RGD:1345813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18827015|PMID:28166811|PMID:28492532|PMID:28516161|PMID:9536098 11995701 TOR1A torsin family 1 member A gene DOID:9005539 Familial Prostate Cancer ISO RGD:1345813 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11995701 TOR1A torsin family 1 member A gene DOID:9006836 Contracture ISO RGD:1345813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 11995728 KLHL34 kelch like family member 34 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11995728 KLHL34 kelch like family member 34 gene DOID:12849 autistic disorder ISO RGD:1603872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11995728 KLHL34 kelch like family member 34 gene DOID:630 genetic disease ISO RGD:1603872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995728 KLHL34 kelch like family member 34 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11995750 GPC1 glypican 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:730930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11995750 GPC1 glypican 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:730930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 11995750 GPC1 glypican 1 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:730930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 11995750 GPC1 glypican 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:730930 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 11995750 GPC1 glypican 1 gene DOID:1059 intellectual disability ISO RGD:730930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11995750 GPC1 glypican 1 gene DOID:630 genetic disease ISO RGD:730930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995750 GPC1 glypican 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:730930 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 11995750 GPC1 glypican 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:730930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 11995763 VSTM2L V-set and transmembrane domain containing 2 like gene DOID:2234 focal epilepsy ISO RGD:1313925 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11995763 VSTM2L V-set and transmembrane domain containing 2 like gene DOID:630 genetic disease ISO RGD:1313925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995771 BCL2A1 BCL2 related protein A1 gene DOID:0080600 COVID-19 ISO RGD:733985 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 11995771 BCL2A1 BCL2 related protein A1 gene DOID:1205 allergic disease ISO RGD:1621639 D RGD:9068941 20200609 RGD PMID:11733571|REF_RGD_ID:734640 11995771 BCL2A1 BCL2 related protein A1 gene DOID:2717 Bloom syndrome ISO RGD:733985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11995771 BCL2A1 BCL2 related protein A1 gene DOID:630 genetic disease ISO RGD:733985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995771 BCL2A1 BCL2 related protein A1 gene DOID:7148 rheumatoid arthritis ISO RGD:733985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 11995771 BCL2A1 BCL2 related protein A1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:733985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17634542 11995771 BCL2A1 BCL2 related protein A1 gene DOID:9008939 Breast Neoplasms ISO RGD:733985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037|PMID:17659439 11995771 BCL2A1 BCL2 related protein A1 gene DOID:9256 colorectal cancer ISO RGD:733985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11995780 IK IK cytokine gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1347168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11995780 IK IK cytokine gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347168 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11995780 IK IK cytokine gene DOID:630 genetic disease ISO RGD:1347168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995780 IK IK cytokine gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11995780 IK IK cytokine gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347168 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11995804 PSRC1 proline and serine rich coiled-coil 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1606488 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11995804 PSRC1 proline and serine rich coiled-coil 1 gene DOID:12849 autistic disorder ISO RGD:1606488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11995804 PSRC1 proline and serine rich coiled-coil 1 gene DOID:3393 coronary artery disease ISO RGD:1606488 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 11995804 PSRC1 proline and serine rich coiled-coil 1 gene DOID:630 genetic disease ISO RGD:1606488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995857 HS1BP3 HCLS1 binding protein 3 gene DOID:630 genetic disease ISO RGD:1602467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995874 PIWIL1 piwi like RNA-mediated gene silencing 1 gene DOID:303 substance-related disorder ISO RGD:1315902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11995874 PIWIL1 piwi like RNA-mediated gene silencing 1 gene DOID:630 genetic disease ISO RGD:1315902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995899 FTMT ferritin mitochondrial gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348564 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11995899 FTMT ferritin mitochondrial gene DOID:630 genetic disease ISO RGD:1348564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995899 FTMT ferritin mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11995899 FTMT ferritin mitochondrial gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348564 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11995904 CCDC110 coiled-coil domain containing 110 gene DOID:12849 autistic disorder ISO RGD:1606416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11995904 CCDC110 coiled-coil domain containing 110 gene DOID:12930 dilated cardiomyopathy ISO RGD:1606416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 11995904 CCDC110 coiled-coil domain containing 110 gene DOID:630 genetic disease ISO RGD:1606416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995904 CCDC110 coiled-coil domain containing 110 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1606416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 11995923 GRM6 glutamate metabotropic receptor 6 gene DOID:0050534 congenital stationary night blindness ISO RGD:70075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:15781871|PMID:16249515|PMID:16622103|PMID:17405131|PMID:19666700|PMID:22008250|PMID:24715752|PMID:26628857|PMID:28041643|PMID:28492532|PMID:30718709 11995923 GRM6 glutamate metabotropic receptor 6 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:70075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11995923 GRM6 glutamate metabotropic receptor 6 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:70075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 11995923 GRM6 glutamate metabotropic receptor 6 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:70075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11995923 GRM6 glutamate metabotropic receptor 6 gene DOID:0110865 congenital stationary night blindness 1B ISO RGD:70075 D RGD:7240710 20180130 OMIM 11995923 GRM6 glutamate metabotropic receptor 6 gene DOID:0110865 congenital stationary night blindness 1B ISO RGD:70075 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1B PMID:11874764|PMID:15781871|PMID:16249515|PMID:16622103|PMID:17405131|PMID:19578023|PMID:19666700|PMID:19862333|PMID:22008250|PMID:22735794|PMID:25307992|PMID:25741868|PMID:26628857|PMID:26667666|PMID:28041643|PMID:28492532|PMID:30718709 11995923 GRM6 glutamate metabotropic receptor 6 gene DOID:0112103 Sotos syndrome 1 ISO RGD:70075 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11995923 GRM6 glutamate metabotropic receptor 6 gene DOID:14791 Leber congenital amaurosis ISO RGD:70075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:11874764|PMID:15781871|PMID:16622103|PMID:22008250|PMID:25741868|PMID:28492532|PMID:30718709 11995923 GRM6 glutamate metabotropic receptor 6 gene DOID:630 genetic disease ISO RGD:70075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11995923 GRM6 glutamate metabotropic receptor 6 gene DOID:8501 fundus dystrophy ISO RGD:70075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11874764|PMID:15781871|PMID:16622103|PMID:19862333|PMID:22008250|PMID:22735794|PMID:25741868|PMID:28492532|PMID:30718709 11995937 ZNF3 zinc finger protein 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11995937 ZNF3 zinc finger protein 3 gene DOID:630 genetic disease ISO RGD:1348770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995967 GPAT3 glycerol-3-phosphate acyltransferase 3 gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1606210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 11995967 GPAT3 glycerol-3-phosphate acyltransferase 3 gene DOID:630 genetic disease ISO RGD:1606210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11995990 SZRD1 SUZ RNA binding domain containing 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1607050 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11996003 ACACA acetyl-CoA carboxylase alpha gene DOID:0060041 autism spectrum disorder ISO RGD:736015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 11996003 ACACA acetyl-CoA carboxylase alpha gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:736015 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 11996003 ACACA acetyl-CoA carboxylase alpha gene DOID:12849 autistic disorder ISO RGD:736015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11996003 ACACA acetyl-CoA carboxylase alpha gene DOID:5419 schizophrenia ISO RGD:736015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11996003 ACACA acetyl-CoA carboxylase alpha gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 PMID:25741868 11996003 ACACA acetyl-CoA carboxylase alpha gene DOID:6000 congestive heart failure ISO RGD:736015 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 11996003 ACACA acetyl-CoA carboxylase alpha gene DOID:630 genetic disease ISO RGD:736015 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11996003 ACACA acetyl-CoA carboxylase alpha gene DOID:684 hepatocellular carcinoma ISO RGD:736015 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 11996003 ACACA acetyl-CoA carboxylase alpha gene DOID:9000701 Acetyl-Coa Carboxylase Deficiency ISO RGD:736015 D RGD:7240710 20180130 OMIM 11996003 ACACA acetyl-CoA carboxylase alpha gene DOID:9000701 Acetyl-Coa Carboxylase Deficiency ISO RGD:736015 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ACACA DEFICIENCY | ClinVar Annotator: match by term: Acetyl-CoA carboxylase deficiency PMID:25741868|PMID:28492532 11996003 ACACA acetyl-CoA carboxylase alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11996003 ACACA acetyl-CoA carboxylase alpha gene DOID:9006646 Metabolic Syndrome ISO RGD:1552388 D RGD:9068941 20230427 RGD mRNA:increased expression:liver (mouse) PMID:29684438|REF_RGD_ID:329333017 11996003 ACACA acetyl-CoA carboxylase alpha gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:736015 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 11996003 ACACA acetyl-CoA carboxylase alpha gene DOID:9007692 Insulin Resistance ISO RGD:621248 D RGD:9068941 20200609 RGD PMID:16485039|REF_RGD_ID:1625727 11996003 ACACA acetyl-CoA carboxylase alpha gene DOID:9452 fatty liver disease ISO RGD:621248 D RGD:9068941 20200609 RGD PMID:16485039|REF_RGD_ID:1625727 11996085 TRMT9B tRNA methyltransferase 9B (putative) gene DOID:630 genetic disease ISO RGD:1602875 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996114 HM13 histocompatibility minor 13 gene DOID:630 genetic disease ISO RGD:1319013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996114 HM13 histocompatibility minor 13 gene DOID:9002834 Herpesviridae Infections treatment ISO RGD:1319014 D RGD:9068941 20210115 RGD PMID:24768597|PMID:31511378|REF_RGD_ID:40903051|REF_RGD_ID:40903053 11996114 HM13 histocompatibility minor 13 gene DOID:9452 fatty liver disease ISO RGD:1319014 D RGD:9068941 20210115 RGD associated with hepatitis PMID:27142248|REF_RGD_ID:40924634 11996161 ZSCAN4 zinc finger and SCAN domain containing 4 gene DOID:630 genetic disease ISO RGD:1351601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996185 ZBTB42 zinc finger and BTB domain containing 42 gene DOID:0081002 Cowden syndrome 6 ISO RGD:2290506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cowden syndrome 6 PMID:28492532 11996185 ZBTB42 zinc finger and BTB domain containing 42 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:2290506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11996185 ZBTB42 zinc finger and BTB domain containing 42 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:2290506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 11996185 ZBTB42 zinc finger and BTB domain containing 42 gene DOID:630 genetic disease ISO RGD:2290506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996185 ZBTB42 zinc finger and BTB domain containing 42 gene DOID:9001595 Lethal Congenital Contracture Syndrome 6 ISO RGD:2290506 D RGD:7240710 20180130 OMIM 11996185 ZBTB42 zinc finger and BTB domain containing 42 gene DOID:9001595 Lethal Congenital Contracture Syndrome 6 ISO RGD:2290506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 6 PMID:25055871|PMID:25741868 11996207 GPR61 G protein-coupled receptor 61 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1320923 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11996207 GPR61 G protein-coupled receptor 61 gene DOID:12849 autistic disorder ISO RGD:1320923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11996207 GPR61 G protein-coupled receptor 61 gene DOID:630 genetic disease ISO RGD:1320923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996217 PTCH1 patched 1 gene DOID:0050860 colorectal adenoma ISO RGD:1319156 D RGD:9068941 20211126 RGD PMID:24612059|REF_RGD_ID:150523840 11996217 PTCH1 patched 1 gene DOID:0050902 medulloblastoma ISO RGD:1319156 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:16301862|PMID:16419085|PMID:22952776|PMID:25741868|PMID:28492532 11996217 PTCH1 patched 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1319156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 11996217 PTCH1 patched 1 gene DOID:0060327 omphalocele ISO RGD:1319156 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Omphalocoele PMID:25741868 11996217 PTCH1 patched 1 gene DOID:0060673 Peters anomaly ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:1347096|PMID:26893459|PMID:28492532 11996217 PTCH1 patched 1 gene DOID:0080016 spina bifida ISO RGD:1319156 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:26446020|REF_RGD_ID:12801432 11996217 PTCH1 patched 1 gene DOID:0080600 COVID-19 ISO RGD:1319156 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11996217 PTCH1 patched 1 gene DOID:0110876 holoprosencephaly 7 ISO RGD:1319156 D RGD:7240710 20180130 OMIM 11996217 PTCH1 patched 1 gene DOID:0110876 holoprosencephaly 7 ISO RGD:1319156 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 7 PMID:11941477|PMID:12204003|PMID:12925203|PMID:1347096|PMID:15712338|PMID:16231297|PMID:16301862|PMID:17001668|PMID:17096318|PMID:17985375|PMID:18502968|PMID:19346217|PMID:20485063|PMID:21188540|PMID:22221699|PMID:22313357|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22995991|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24368541|PMID:24728327|PMID:24942795|PMID:25260786|PMID:25326637|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26893459|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27930734|PMID:28492532|PMID:28627087|PMID:28733979|PMID:28873162|PMID:29498494|PMID:29575684|PMID:30262796|PMID:31180159|PMID:31655866|PMID:32074614|PMID:32321774|PMID:32409749|PMID:32906206|PMID:33209614|PMID:33466296|PMID:33729574|PMID:34831015|PMID:8302318|PMID:9463336 11996217 PTCH1 patched 1 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 PMID:28492532 11996217 PTCH1 patched 1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1319156 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:16231297|PMID:23334667|PMID:24728327|PMID:25567908|PMID:25741868|PMID:26467025|PMID:26559152|PMID:26802149|PMID:26893459|PMID:28492532|PMID:33729574 11996217 PTCH1 patched 1 gene DOID:10460 nasopharyngitis ISO RGD:1319156 D RGD:9068941 20211126 RGD mRNA:decreased expression:epithelium of nasopharynx PMID:23001130|REF_RGD_ID:150523839 11996217 PTCH1 patched 1 gene DOID:10487 Hirschsprung's disease ISO RGD:1319156 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:16231297|PMID:23334667|PMID:24728327|PMID:26467025|PMID:26559152|PMID:26893459|PMID:28492532|PMID:33729574 11996217 PTCH1 patched 1 gene DOID:10534 stomach cancer ISO RGD:1319156 D RGD:9068941 20211126 RGD DNA:hypermethylation:promoter PMID:19673023|REF_RGD_ID:150523838 11996217 PTCH1 patched 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1319156 D RGD:9068941 20211126 RGD PMID:22456124|PMID:23371028|REF_RGD_ID:150523836|REF_RGD_ID:150523844 11996217 PTCH1 patched 1 gene DOID:10534 stomach cancer severity ISO RGD:1319156 D RGD:9068941 20211126 RGD PMID:23440386|REF_RGD_ID:150523843 11996217 PTCH1 patched 1 gene DOID:1059 intellectual disability ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11996217 PTCH1 patched 1 gene DOID:10908 hydrocephalus ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:28492532|PMID:29983323 11996217 PTCH1 patched 1 gene DOID:11830 myopia ISO RGD:1319156 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868|PMID:28492532 11996217 PTCH1 patched 1 gene DOID:13223 uterine fibroid ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uterine leiomyoma PMID:25741868 11996217 PTCH1 patched 1 gene DOID:13636 Fanconi anemia ISO RGD:1319156 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:17924555|PMID:23613520|PMID:28492532|PMID:31558676 11996217 PTCH1 patched 1 gene DOID:14686 Axenfeld-Rieger syndrome ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rieger anomaly PMID:26893459|PMID:28492532 11996217 PTCH1 patched 1 gene DOID:1682 congenital heart disease ISO RGD:1319156 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital heart disease PMID:25637381|PMID:28492532 11996217 PTCH1 patched 1 gene DOID:1793 pancreatic cancer ISO RGD:1319156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19077462 11996217 PTCH1 patched 1 gene DOID:1793 pancreatic cancer ISO RGD:1319156 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19396459|REF_RGD_ID:2324910 11996217 PTCH1 patched 1 gene DOID:2120 focal dermal hypoplasia ISO RGD:1319156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gorlin-Goltz Syndrome PMID:11457640|PMID:12204003|PMID:16301862|PMID:16419085|PMID:24728327|PMID:25741868|PMID:28492532 11996217 PTCH1 patched 1 gene DOID:2394 ovarian cancer ISO RGD:1319156 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:16931872|PMID:24204797|PMID:25326637|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28492532|PMID:29205322|PMID:30093976|PMID:31645765 11996217 PTCH1 patched 1 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1319156 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome PMID:10048928|PMID:10200051|PMID:10564585|PMID:10890722|PMID:11231326|PMID:11387302|PMID:11457640|PMID:11941477|PMID:12192414|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12900905|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15290653|PMID:15459969|PMID:15545745|PMID:15565302|PMID:15712338|PMID:16088933|PMID:16199547|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16906569|PMID:16909134|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17328283|PMID:17349603|PMID:17576681|PMID:17703323|PMID:17924555|PMID:18302678|PMID:18373848|PMID:18477452|PMID:1850296|PMID:18502968|PMID:18510667|PMID:18830227|PMID:19002359|PMID:19346217|PMID:19362041|PMID:19521425|PMID:19557015|PMID:20068110|PMID:20301330|PMID:20485063|PMID:20690502|PMID:21188540|PMID:21368767|PMID:21490102|PMID:21514272|PMID:21567912|PMID:22193408|PMID:22221699|PMID:22313357|PMID:22382802|PMID:22434048|PMID:22572734|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22829011|PMID:22844361|PMID:22952776|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24369017|PMID:24529220|PMID:24651015|PMID:24668667|PMID:24728327|PMID:24814739|PMID:24816767|PMID:24942795|PMID:25117323|PMID:25131638|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25727044|PMID:25741868|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26580448|PMID:26604511|PMID:26802149|PMID:26893459|PMID:26997948|PMID:27028851|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27793025|PMID:27930734|PMID:27993330|PMID:28342698|PMID:28492532|PMID:28596197|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:29146900|PMID:29205322|PMID:29212164|PMID:29230040|PMID:29277811|PMID:29381605|PMID:29446198|PMID:29498494|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29983323|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30262796|PMID:30368514|PMID:30411536|PMID:30584090|PMID:30666157|PMID:30754660|PMID:30936464|PMID:30997576|PMID:31127104|PMID:31180159|PMID:31437519|PMID:31548691|PMID:31639285|PMID:31644632|PMID:31645765|PMID:31655866|PMID:31837199|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32311334|PMID:32321774|PMID:32409749|PMID:32741058|PMID:32906206|PMID:33077954|PMID:33209614|PMID:33332384|PMID:33418956|PMID:33441926|PMID:33466296|PMID:33609447|PMID:33674644|PMID:33729574|PMID:34008892|PMID:34426522|PMID:34831015|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9231911|PMID:9341860|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294 11996217 PTCH1 patched 1 gene DOID:2513 basal cell carcinoma ISO RGD:1319156 D RGD:7240710 20230505 OMIM 11996217 PTCH1 patched 1 gene DOID:2513 basal cell carcinoma ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7 PMID:16301862|PMID:16419085|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8782823|PMID:9620294 11996217 PTCH1 patched 1 gene DOID:2513 basal cell carcinoma ISO RGD:1319156 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7 PMID:11941477|PMID:15712338|PMID:16301862|PMID:16419085|PMID:17096318|PMID:22703879|PMID:24728327|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29205322|PMID:30411536|PMID:31645765|PMID:32409749|PMID:33332384|PMID:8782823|PMID:9620294 11996217 PTCH1 patched 1 gene DOID:2513 basal cell carcinoma disease_progression ISO RGD:1319156 D RGD:9068941 20200609 RGD mRNA:increased expression:skin of body PMID:10504535|REF_RGD_ID:12801453 11996217 PTCH1 patched 1 gene DOID:3213 demyelinating disease treatment ISO RGD:1319157 D RGD:9068941 20200609 RGD PMID:15128833|REF_RGD_ID:12801445 11996217 PTCH1 patched 1 gene DOID:3247 rhabdomyosarcoma ISO RGD:1319156 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:33372952 11996217 PTCH1 patched 1 gene DOID:3304 germinoma ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Germinoma PMID:25741868|PMID:28492532 11996217 PTCH1 patched 1 gene DOID:3459 breast carcinoma ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:25741868|PMID:28492532 11996217 PTCH1 patched 1 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1319156 D RGD:9068941 20211126 RGD PMID:16475698|REF_RGD_ID:150523841 11996217 PTCH1 patched 1 gene DOID:3840 craniopharyngioma ISO RGD:1319156 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Craniopharyngioma PMID:25741868|PMID:26467025|PMID:28492532|PMID:29230040 11996217 PTCH1 patched 1 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:1319156 D RGD:9068941 20211203 RGD DNA:CNVs PMID:21889114|REF_RGD_ID:150524337 11996217 PTCH1 patched 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1319156 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330|PMID:28492532 11996217 PTCH1 patched 1 gene DOID:4195 hyperglycemia ISO RGD:1319156 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:16804411|REF_RGD_ID:2324911 11996217 PTCH1 patched 1 gene DOID:4621 holoprosencephaly ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:11941477|PMID:17001668|PMID:21188540|PMID:22703879|PMID:22820256|PMID:24055113|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26489027|PMID:26893459|PMID:27153395|PMID:28492532|PMID:8302318 11996217 PTCH1 patched 1 gene DOID:4948 gallbladder carcinoma disease_progression ISO RGD:1319156 D RGD:9068941 20211126 RGD PMID:22407314|REF_RGD_ID:150523794 11996217 PTCH1 patched 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1319156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 11996217 PTCH1 patched 1 gene DOID:5522 basaloid squamous cell carcinoma ISO RGD:1319156 D RGD:9068941 20211126 RGD DNA:missense mutations, nonsense mutations PMID:25395299|REF_RGD_ID:150523793 11996217 PTCH1 patched 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 11996217 PTCH1 patched 1 gene DOID:630 genetic disease ISO RGD:1319156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11941477|PMID:12879481|PMID:15545745|PMID:16301862|PMID:16419085|PMID:17001668|PMID:22313357|PMID:22703879|PMID:24204797|PMID:24529220|PMID:25403219|PMID:26356331|PMID:26604511|PMID:28492532|PMID:29212164|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9231911 11996217 PTCH1 patched 1 gene DOID:674 cleft palate ISO RGD:1319156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16405370 11996217 PTCH1 patched 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1319156 D RGD:9068941 20211126 RGD PMID:22911366|REF_RGD_ID:150523842 11996217 PTCH1 patched 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1319156 D RGD:9068941 20211126 RGD PMID:18538319|REF_RGD_ID:150523837 11996217 PTCH1 patched 1 gene DOID:768 retinoblastoma ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:24728327|PMID:25741868|PMID:28492532 11996217 PTCH1 patched 1 gene DOID:769 neuroblastoma ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:25741868|PMID:28492532 11996217 PTCH1 patched 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:621425 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:23933201|REF_RGD_ID:12859044 11996217 PTCH1 patched 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1319156 D RGD:9068941 20211126 RGD associated with colorectal cancer PMID:20230186|REF_RGD_ID:150523835 11996217 PTCH1 patched 1 gene DOID:9001044 Choroidal Neovascularization ISO RGD:621425 D RGD:9068941 20221201 RGD mRNA,protein:increased expression:choroid: PMID:21063852|REF_RGD_ID:12859045 11996217 PTCH1 patched 1 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:621425 D RGD:9068941 20200609 RGD PMID:25821409|REF_RGD_ID:12879456 11996217 PTCH1 patched 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1319156 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:10564585|PMID:25741868|PMID:28492532 11996217 PTCH1 patched 1 gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:1319156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9581815 11996217 PTCH1 patched 1 gene DOID:9003769 Patterson Stevenson Syndrome ISO RGD:1319156 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME PMID:12204003|PMID:24728327|PMID:25741868|PMID:28492532 11996217 PTCH1 patched 1 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1319156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868|PMID:28492532 11996217 PTCH1 patched 1 gene DOID:9004237 Hyperoxic Lung Injury ISO RGD:621425 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:22641469|REF_RGD_ID:12859031 11996217 PTCH1 patched 1 gene DOID:9004464 Skin Neoplasms ISO RGD:1319156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9581815 11996217 PTCH1 patched 1 gene DOID:9005100 Aberrant Crypt Foci ISO RGD:1319156 D RGD:9068941 20211105 RGD DNA:hypermethylation:colon PMID:22945423|REF_RGD_ID:150520176 11996217 PTCH1 patched 1 gene DOID:9005729 Chronic Experimental Pancreatitis ISO RGD:621425 D RGD:9068941 20200609 RGD PMID:24782623|REF_RGD_ID:12879405 11996217 PTCH1 patched 1 gene DOID:9005987 Basal Cell Nevus Syndrome 1 ISO RGD:1319156 D RGD:7240710 20230505 OMIM 11996217 PTCH1 patched 1 gene DOID:9005987 Basal Cell Nevus Syndrome 1 ISO RGD:1319156 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: BASAL CELL NEVUS SYNDROME 1 PMID:11457640|PMID:12204003|PMID:16301862|PMID:16419085|PMID:24728327|PMID:25741868|PMID:28492532 11996217 PTCH1 patched 1 gene DOID:9006796 Gastrointestinal Neoplasms ISO RGD:1319157 D RGD:9068941 20211126 RGD PMID:19321799|REF_RGD_ID:150523834 11996217 PTCH1 patched 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319156 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10048928|PMID:10200051|PMID:10564585|PMID:11941477|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15459969|PMID:15545745|PMID:15712338|PMID:16088933|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16906569|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:21188540|PMID:21325292|PMID:21520333|PMID:21834049|PMID:22313357|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24529220|PMID:24668667|PMID:24728327|PMID:24814739|PMID:24942795|PMID:25260786|PMID:25326635|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26604511|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27793025|PMID:27930734|PMID:28492532|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29205322|PMID:29212164|PMID:29498494|PMID:29575684|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30262796|PMID:30584090|PMID:30666157|PMID:30997576|PMID:31437519|PMID:31645765|PMID:31655866|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32321774|PMID:32409749|PMID:33077954|PMID:33209614|PMID:33729574|PMID:34426522|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9231911|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294 11996217 PTCH1 patched 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319156 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10048928|PMID:10200051|PMID:10564585|PMID:11941477|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15459969|PMID:15545745|PMID:15712338|PMID:16088933|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16906569|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:21188540|PMID:21234763|PMID:21325292|PMID:21520333|PMID:21834049|PMID:22313357|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24529220|PMID:24668667|PMID:24728327|PMID:24814739|PMID:24942795|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26604511|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27149842|PMID:27153395|PMID:27363716|PMID:27535533|PMID:27561271|PMID:27793025|PMID:27930734|PMID:28492532|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29205322|PMID:29212164|PMID:29498494|PMID:29575684|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30262796|PMID:30411536|PMID:30584090|PMID:30666157|PMID:30997576|PMID:31437519|PMID:31645765|PMID:31655866|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32321774|PMID:32409749|PMID:33077954|PMID:33209614|PMID:33729574|PMID:34426522|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9231911|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294 11996217 PTCH1 patched 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319156 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10048928|PMID:10200051|PMID:10564585|PMID:11457640|PMID:11531849|PMID:11941477|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15290653|PMID:15459969|PMID:15545745|PMID:15712338|PMID:16088933|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16906569|PMID:16909134|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:21188540|PMID:21234763|PMID:21325292|PMID:21490102|PMID:21520333|PMID:21834049|PMID:22193408|PMID:22313357|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22952776|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24529220|PMID:24668667|PMID:24728327|PMID:24814739|PMID:24942795|PMID:25260786|PMID:25326635|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:26290144|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26580448|PMID:26604511|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27149842|PMID:27153395|PMID:27363716|PMID:27535533|PMID:27561271|PMID:27680694|PMID:27793025|PMID:27930734|PMID:28492532|PMID:28596197|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29146900|PMID:29205322|PMID:29212164|PMID:29255261|PMID:29381605|PMID:29498494|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29792231|PMID:29849051|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30262796|PMID:30411536|PMID:30584090|PMID:30666157|PMID:30997576|PMID:31113992|PMID:31127104|PMID:31437519|PMID:31548691|PMID:31639285|PMID:31645765|PMID:31655866|PMID:31837199|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32311334|PMID:32321774|PMID:32409749|PMID:32860743|PMID:33077954|PMID:33209614|PMID:33270637|PMID:33332384|PMID:33609447|PMID:33729574|PMID:34426522|PMID:34698632|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9192811|PMID:9231911|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294 11996217 PTCH1 patched 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10048928|PMID:10200051|PMID:10564585|PMID:10890722|PMID:11457640|PMID:11531849|PMID:11941477|PMID:12192414|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15290653|PMID:15459969|PMID:15545745|PMID:15712338|PMID:16088933|PMID:16199547|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16906569|PMID:16909134|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:21188540|PMID:21325292|PMID:21490102|PMID:21834049|PMID:22193408|PMID:22221699|PMID:22313357|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22952776|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24529220|PMID:24668667|PMID:24728327|PMID:24814739|PMID:24942795|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:26290144|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26580448|PMID:26604511|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27680694|PMID:27793025|PMID:27930734|PMID:28492532|PMID:28596197|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29146900|PMID:29205322|PMID:29212164|PMID:29230040|PMID:29255261|PMID:29381605|PMID:29498494|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29792231|PMID:29849051|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30262796|PMID:30584090|PMID:30666157|PMID:30997576|PMID:31113992|PMID:31127104|PMID:31180159|PMID:31437519|PMID:31548691|PMID:31639285|PMID:31645765|PMID:31655866|PMID:31837199|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32311334|PMID:32321774|PMID:32409749|PMID:32860743|PMID:32906206|PMID:33077954|PMID:33209614|PMID:33332384|PMID:33466296|PMID:33609447|PMID:33674644|PMID:33729574|PMID:34426522|PMID:34698632|PMID:34831015|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9192811|PMID:9231911|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294 11996217 PTCH1 patched 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319156 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10048928|PMID:10200051|PMID:10564585|PMID:10890722|PMID:11457640|PMID:11531849|PMID:11941477|PMID:12192414|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15290653|PMID:15459969|PMID:15545745|PMID:15712338|PMID:16088933|PMID:16199547|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16906569|PMID:16909134|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:21188540|PMID:21325292|PMID:21490102|PMID:21834049|PMID:22193408|PMID:22221699|PMID:22313357|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22952776|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24529220|PMID:24668667|PMID:24728327|PMID:24814739|PMID:24942795|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:26290144|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26580448|PMID:26604511|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27680694|PMID:27793025|PMID:27930734|PMID:27993330|PMID:28492532|PMID:28596197|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29146900|PMID:29205322|PMID:29212164|PMID:29230040|PMID:29255261|PMID:29381605|PMID:29498494|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29792231|PMID:29849051|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30262796|PMID:30411536|PMID:30584090|PMID:30666157|PMID:30997576|PMID:31113992|PMID:31127104|PMID:31180159|PMID:31437519|PMID:31548691|PMID:31639285|PMID:31645765|PMID:31655866|PMID:31837199|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32311334|PMID:32321774|PMID:32409749|PMID:32860743|PMID:32906206|PMID:33077954|PMID:33209614|PMID:33332384|PMID:33466296|PMID:33609447|PMID:33674644|PMID:33729574|PMID:34426522|PMID:34698632|PMID:34831015|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9192811|PMID:9231911|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294 11996217 PTCH1 patched 1 gene DOID:9007284 Precocious Puberty ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Precocious puberty 11996217 PTCH1 patched 1 gene DOID:9007502 Brain Neoplasms ISO RGD:1319156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9581815 11996217 PTCH1 patched 1 gene DOID:9007798 Preaxial Polydactyly II ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly, preaxial II PMID:12204003|PMID:24728327|PMID:25741868|PMID:28492532 11996217 PTCH1 patched 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1319156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:17576681|PMID:25741868|PMID:28492532|PMID:31837199|PMID:9536098 11996217 PTCH1 patched 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1319156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16405370|PMID:18539553 11996217 PTCH1 patched 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:25741868|PMID:26467025|PMID:28492532|PMID:28873162|PMID:32321774 11996217 PTCH1 patched 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 11996217 PTCH1 patched 1 gene DOID:9296 cleft lip ISO RGD:1319156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16405370 11996254 HIVEP1 HIVEP zinc finger 1 gene DOID:1826 epilepsy ISO RGD:736425 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11996254 HIVEP1 HIVEP zinc finger 1 gene DOID:2661 myoepithelioma ISO RGD:736425 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11996254 HIVEP1 HIVEP zinc finger 1 gene DOID:630 genetic disease ISO RGD:736425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996264 RAB3C RAB3C, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:732895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996264 RAB3C RAB3C, member RAS oncogene family gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11996276 CCDC175 coiled-coil domain containing 175 gene DOID:630 genetic disease ISO RGD:1347710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996301 AIMP2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:1603320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868|PMID:36647049 11996301 AIMP2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 gene DOID:0080600 COVID-19 ISO RGD:1603320 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11996301 AIMP2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 gene DOID:3883 Lynch syndrome ISO RGD:1603320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18602922|PMID:18809606|PMID:20205264|PMID:21376568|PMID:24068316|PMID:24362816|PMID:28492532 11996301 AIMP2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 gene DOID:630 genetic disease ISO RGD:1603320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11996301 AIMP2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868|PMID:29215095 11996301 AIMP2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 gene DOID:9009183 Hypomyelinating Leukodystrophy 17 ISO RGD:1603320 D RGD:7240710 20190315 OMIM 11996301 AIMP2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 gene DOID:9009183 Hypomyelinating Leukodystrophy 17 ISO RGD:1603320 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 17 PMID:25741868|PMID:28492532|PMID:29215095 11996312 CDX1 caudal type homeobox 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321203 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11996312 CDX1 caudal type homeobox 1 gene DOID:630 genetic disease ISO RGD:1321203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996312 CDX1 caudal type homeobox 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321203 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11996326 BAMBI BMP and activin membrane bound inhibitor gene DOID:10534 stomach cancer disease_progression ISO RGD:1346993 D RGD:9068941 20200609 RGD PMID:24752577|REF_RGD_ID:14390158 11996326 BAMBI BMP and activin membrane bound inhibitor gene DOID:14654 prostatitis ISO RGD:1346993 D RGD:9068941 20200609 RGD associated with prostatic hypertrophy;mRNA,protein:decreased expression:prostate: PMID:27243216|REF_RGD_ID:14390161 11996326 BAMBI BMP and activin membrane bound inhibitor gene DOID:1712 aortic valve stenosis ISO RGD:1346993 D RGD:9068941 20200609 RGD protein:increased expression:myocardium: PMID:23168040|REF_RGD_ID:14390160 11996326 BAMBI BMP and activin membrane bound inhibitor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1346993 D RGD:9068941 20200609 RGD mRNA:increased expression:CD4+ T : PMID:27549738|REF_RGD_ID:14390164 11996326 BAMBI BMP and activin membrane bound inhibitor gene DOID:3908 lung non-small cell carcinoma ISO RGD:1346993 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung: PMID:20716422|REF_RGD_ID:14390157 11996326 BAMBI BMP and activin membrane bound inhibitor gene DOID:5082 liver cirrhosis ISO RGD:1346993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097701 11996326 BAMBI BMP and activin membrane bound inhibitor gene DOID:6000 congestive heart failure ISO RGD:1346993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11996326 BAMBI BMP and activin membrane bound inhibitor gene DOID:630 genetic disease ISO RGD:1346993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996326 BAMBI BMP and activin membrane bound inhibitor gene DOID:9000039 Spinal Cord Injuries ISO RGD:621831 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:spinal cord: PMID:28035406|REF_RGD_ID:14390163 11996326 BAMBI BMP and activin membrane bound inhibitor gene DOID:9000081 Lymphatic Metastasis ISO RGD:1346993 D RGD:9068941 20200609 RGD associated with stomach cancer; protein:increased expression: : PMID:24752577|REF_RGD_ID:14390158 11996326 BAMBI BMP and activin membrane bound inhibitor gene DOID:9003936 Cardiomegaly ISO RGD:1346993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 11996326 BAMBI BMP and activin membrane bound inhibitor gene DOID:9256 colorectal cancer ISO RGD:1346993 D RGD:9068941 20200609 RGD PMID:29085481|REF_RGD_ID:14390156 11996326 BAMBI BMP and activin membrane bound inhibitor gene DOID:9256 colorectal cancer disease_progression ISO RGD:1346993 D RGD:9068941 20200609 RGD PMID:18756595|REF_RGD_ID:14390154 11996326 BAMBI BMP and activin membrane bound inhibitor gene DOID:9970 obesity ISO RGD:736709 D RGD:9068941 20200609 RGD mRNA:decreased expression:adipose tissue PMID:22187378|REF_RGD_ID:14390162 11996326 Bambi BMP and activin membrane-bound inhibitor gene DOID:9004319 Ventricular Outflow Obstruction ISO RGD:736709 D RGD:9068941 20200609 RGD protein:increased expression:myocardium: PMID:23168040|REF_RGD_ID:14390160 11996333 TRABD2B TraB domain containing 2B gene DOID:630 genetic disease ISO RGD:6770286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996345 LIPC lipase C, hepatic type gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:736877 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:12777476|PMID:1671786|PMID:1883393|PMID:21986251|PMID:23685560|PMID:24033266|PMID:24497850|PMID:24633158|PMID:25741868|PMID:25995285|PMID:28492532|PMID:28870971|PMID:30333156|PMID:8123642|PMID:8732782 11996345 LIPC lipase C, hepatic type gene DOID:10652 Alzheimer's disease ISO RGD:736877 D RGD:9068941 20200609 RGD DNA:SNPs: :rs6084 (human) PMID:17175070|REF_RGD_ID:1600644 11996345 LIPC lipase C, hepatic type gene DOID:10652 Alzheimer's disease no_association ISO RGD:736877 D RGD:9068941 20200609 RGD DNA:SNPs: :rs6074, rs6083, rs6084 (human) PMID:17175070|REF_RGD_ID:1600644 11996345 LIPC lipase C, hepatic type gene DOID:1168 familial hyperlipidemia ISO RGD:3009 D RGD:9068941 20200609 RGD protein:reduced expression:plasma (rat) PMID:12935429|REF_RGD_ID:1581787 11996345 LIPC lipase C, hepatic type gene DOID:1168 familial hyperlipidemia ISO RGD:736877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1883393 11996345 LIPC lipase C, hepatic type gene DOID:11801 protein-energy malnutrition ISO RGD:3009 D RGD:9068941 20200609 RGD protein:reduced expression:plasma (rat) PMID:7666262|REF_RGD_ID:2308792 11996345 LIPC lipase C, hepatic type gene DOID:1184 nephrotic syndrome ISO RGD:3009 D RGD:9068941 20200609 RGD protein, mRNA:reduced expression:liver (rat) PMID:9186885|REF_RGD_ID:2308789 11996345 LIPC lipase C, hepatic type gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:3009 D RGD:9068941 20200609 RGD protein:reduced expression:serum (rat) PMID:14531811|REF_RGD_ID:2308781 11996345 LIPC lipase C, hepatic type gene DOID:13809 familial combined hyperlipidemia ISO RGD:736877 D RGD:9068941 20200609 RGD PMID:16338252|REF_RGD_ID:1580512 11996345 LIPC lipase C, hepatic type gene DOID:1459 hypothyroidism ISO RGD:3009 D RGD:9068941 20200609 RGD mRNA, protein:reduced expression:hepatocyte, extracellular space (rat) PMID:9106496|REF_RGD_ID:2308790 11996345 LIPC lipase C, hepatic type gene DOID:1459 hypothyroidism ISO RGD:3009 D RGD:9068941 20200609 RGD protein:reduced expression:plasma (rat) PMID:12841343|REF_RGD_ID:2308783 11996345 LIPC lipase C, hepatic type gene DOID:2018 hyperinsulinism ISO RGD:3009 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat) PMID:7047662|REF_RGD_ID:2308800 11996345 LIPC lipase C, hepatic type gene DOID:2018 hyperinsulinism ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human) PMID:11095452|PMID:1592086|REF_RGD_ID:2308794|REF_RGD_ID:2308844 11996345 LIPC lipase C, hepatic type gene DOID:2237 hepatitis ISO RGD:3009 D RGD:9068941 20200609 RGD protein:reduced expression:plasma (rat) PMID:7078435|REF_RGD_ID:2308799 11996345 LIPC lipase C, hepatic type gene DOID:2717 Bloom syndrome ISO RGD:736877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11996345 LIPC lipase C, hepatic type gene DOID:3146 lipid metabolism disorder ISO RGD:736877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15292318|PMID:1671786|PMID:1883393 11996345 LIPC lipase C, hepatic type gene DOID:326 ischemia ISO RGD:3009 D RGD:9068941 20200609 RGD protein:decreased expression:liver (rat) PMID:1918876|REF_RGD_ID:2308796 11996345 LIPC lipase C, hepatic type gene DOID:3393 coronary artery disease ISO RGD:736877 D RGD:9068941 20200609 RGD 250G/A PMID:15099346|REF_RGD_ID:1600663 11996345 LIPC lipase C, hepatic type gene DOID:3393 coronary artery disease ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; DNA:transition:promoter:-480C>T (human) PMID:11916946|REF_RGD_ID:2308839 11996345 LIPC lipase C, hepatic type gene DOID:3393 coronary artery disease no_association ISO RGD:736877 D RGD:9068941 20200609 RGD C514T PMID:12689525|REF_RGD_ID:1600664 11996345 LIPC lipase C, hepatic type gene DOID:341 peripheral vascular disease ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:transition:promoter:-250G>A (human) PMID:18413186|REF_RGD_ID:2308822 11996345 LIPC lipase C, hepatic type gene DOID:557 kidney disease resistance ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; DNA:transition:promoter:-514C>T (human) PMID:16928730|REF_RGD_ID:2308823 11996345 LIPC lipase C, hepatic type gene DOID:557 kidney disease susceptibility ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:transition:promoter:-514C>T (human) PMID:15983323|REF_RGD_ID:2308828 11996345 LIPC lipase C, hepatic type gene DOID:630 genetic disease ISO RGD:736877 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28106320|PMID:28492532 11996345 LIPC lipase C, hepatic type gene DOID:783 end stage renal disease ISO RGD:3009 D RGD:9068941 20200609 RGD protein, mRNA:decreased expression:hepatocytes, liver (rat) PMID:8636395|REF_RGD_ID:2308788 11996345 LIPC lipase C, hepatic type gene DOID:9000528 Coronary Disease susceptibility ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Obesity and Diabetes; DNA:transition:promoter:-514C>T (human) PMID:16570154|REF_RGD_ID:2308824 11996345 LIPC lipase C, hepatic type gene DOID:9000808 Hypercholesterolemia ISO RGD:10871 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:liver (mouse) PMID:11279518|REF_RGD_ID:2308841 11996345 LIPC lipase C, hepatic type gene DOID:9000808 Hypercholesterolemia ISO RGD:3009 D RGD:9068941 20200609 RGD protein, mRNA:decreased expression:plasma, liver (rat) PMID:7830494|REF_RGD_ID:2308793 11996345 LIPC lipase C, hepatic type gene DOID:9000808 Hypercholesterolemia ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus; protein:decreased expression:plasma (human) PMID:6340423|REF_RGD_ID:2308850 11996345 LIPC lipase C, hepatic type gene DOID:9001542 Albuminuria ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma (human) PMID:8666151|REF_RGD_ID:2308836 11996345 LIPC lipase C, hepatic type gene DOID:9002427 Fetal Macrosomia ISO RGD:3009 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat) PMID:10600655|REF_RGD_ID:2308786 11996345 LIPC lipase C, hepatic type gene DOID:9002513 Hypoproteinemia ISO RGD:3009 D RGD:9068941 20200609 RGD protein:reduced expression:plasma (rat) PMID:10844597|REF_RGD_ID:2308785 11996345 LIPC lipase C, hepatic type gene DOID:9003370 Dyslipidemias ISO RGD:736877 D RGD:7240710 20181003 OMIM 11996345 LIPC lipase C, hepatic type gene DOID:9003370 Dyslipidemias ISO RGD:736877 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dyslipidemia | ClinVar Annotator: match by term: High density lipoprotein cholesterol level quantitative trait locus 12 | ClinVar Annotator: match by term: High density lipoprotein cholesterol level quantitative trait locus 6 PMID:15292318|PMID:18364377|PMID:25741868|PMID:28492532 11996345 LIPC lipase C, hepatic type gene DOID:9004484 Sepsis ISO RGD:3009 D RGD:9068941 20200609 RGD protein:decreased expression:diaphragm, heart, adipose tissue (rat) PMID:2113037|REF_RGD_ID:2308797 11996345 LIPC lipase C, hepatic type gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:736877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16030523 11996345 LIPC lipase C, hepatic type gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3009 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:1868959|PMID:18758746|REF_RGD_ID:2307432|REF_RGD_ID:2308849 11996345 LIPC lipase C, hepatic type gene DOID:9006599 Hypertriglyceridemia ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma (human) PMID:187516|REF_RGD_ID:2308846 11996345 LIPC lipase C, hepatic type gene DOID:9007137 Hepatic Lipase Deficiency ISO RGD:736877 D RGD:7240710 20180130 OMIM 11996345 LIPC lipase C, hepatic type gene DOID:9007137 Hepatic Lipase Deficiency ISO RGD:736877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatic lipase deficiency | ClinVar Annotator: match by term: LIPC DEFICIENCY PMID:10729390|PMID:12777476|PMID:1671786|PMID:17576681|PMID:1883393|PMID:19088157|PMID:21130455|PMID:21986251|PMID:23685560|PMID:24033266|PMID:24497850|PMID:24633158|PMID:25361584|PMID:25741868|PMID:25995285|PMID:28492532|PMID:28870971|PMID:28951076|PMID:30333156|PMID:8123642|PMID:8732782|PMID:9536098 11996345 LIPC lipase C, hepatic type gene DOID:9007571 Hyperlipoproteinemias ISO RGD:3009 D RGD:9068941 20200609 RGD associated with Nephrosis; protein:decreased expression:plasma (rat) PMID:6480830|REF_RGD_ID:2308798 11996345 LIPC lipase C, hepatic type gene DOID:9007571 Hyperlipoproteinemias ISO RGD:736877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18160998 11996345 LIPC lipase C, hepatic type gene DOID:9007571 Hyperlipoproteinemias ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma (human) PMID:11427226|REF_RGD_ID:2308834 11996345 LIPC lipase C, hepatic type gene DOID:9007571 Hyperlipoproteinemias ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Obesity and Diabetes; DNA:transition:promoter:-514C>T (human) PMID:15941898|REF_RGD_ID:2308829 11996345 LIPC lipase C, hepatic type gene DOID:9007692 Insulin Resistance ISO RGD:736877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15504970 11996345 LIPC lipase C, hepatic type gene DOID:9009039 Hyperemia ISO RGD:736877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16330034 11996345 LIPC lipase C, hepatic type gene DOID:9256 colorectal cancer ISO RGD:736877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11996345 LIPC lipase C, hepatic type gene DOID:9352 type 2 diabetes mellitus ISO RGD:736877 D RGD:7240710 20180130 OMIM 11996345 LIPC lipase C, hepatic type gene DOID:9352 type 2 diabetes mellitus ISO RGD:736877 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:12777476|PMID:1671786|PMID:18364377|PMID:1883393|PMID:21986251|PMID:23685560|PMID:24033266|PMID:24497850|PMID:24633158|PMID:25741868|PMID:25995285|PMID:28492532|PMID:28870971|PMID:30333156|PMID:8123642|PMID:8732782 11996345 LIPC lipase C, hepatic type gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:736877 D RGD:9068941 20200609 RGD DNA:transition:promoter:-250G>A (human) PMID:15656877|REF_RGD_ID:2308830 11996345 LIPC lipase C, hepatic type gene DOID:9744 type 1 diabetes mellitus ISO RGD:736877 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:9580247|REF_RGD_ID:2308845 11996345 LIPC lipase C, hepatic type gene DOID:9970 obesity ISO RGD:3009 D RGD:9068941 20200609 RGD protein:altered expression:liver, plasma (rat) PMID:11544558|REF_RGD_ID:2308784 11996345 LIPC lipase C, hepatic type gene DOID:9970 obesity ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma (human) PMID:12843191|REF_RGD_ID:2308835 11996362 DCDC2B doublecortin domain containing 2B gene DOID:630 genetic disease ISO RGD:1604739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996384 H1-3 H1.3 linker histone, cluster member gene DOID:630 genetic disease ISO RGD:1343145 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996390 MUC22 mucin 22 gene DOID:0050553 JMP syndrome ISO RGD:5453552 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11996390 MUC22 mucin 22 gene DOID:11372 megacolon ISO RGD:5453552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11996390 MUC22 mucin 22 gene DOID:630 genetic disease ISO RGD:5453552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996400 NCR3LG1 natural killer cell cytotoxicity receptor 3 ligand 1 gene DOID:1059 intellectual disability ISO RGD:1601692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11996400 NCR3LG1 natural killer cell cytotoxicity receptor 3 ligand 1 gene DOID:630 genetic disease ISO RGD:1601692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996436 LYNX1 Ly6/neurotoxin 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1604308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 11996436 LYNX1 Ly6/neurotoxin 1 gene DOID:4621 holoprosencephaly ISO RGD:1604308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11996436 LYNX1 Ly6/neurotoxin 1 gene DOID:630 genetic disease ISO RGD:1604308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996454 LOC100982879 olfactory receptor 6Y1 gene DOID:1540 parathyroid carcinoma ISO RGD:1347188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11996454 LOC100982879 olfactory receptor 6Y1 gene DOID:630 genetic disease ISO RGD:1347188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996454 LOC100982879 olfactory receptor 6Y1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11996462 KHNYN KH and NYN domain containing gene DOID:0060439 lysinuric protein intolerance ISO RGD:1316201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11996462 KHNYN KH and NYN domain containing gene DOID:630 genetic disease ISO RGD:1316201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996462 KHNYN KH and NYN domain containing gene DOID:9000265 Specific Granule Deficiency ISO RGD:1316201 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 11996462 KHNYN KH and NYN domain containing gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1316201 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11996480 RSAD2 radical S-adenosyl methionine domain containing 2 gene DOID:0080600 COVID-19 ISO RGD:1345303 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11996480 RSAD2 radical S-adenosyl methionine domain containing 2 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:8778396 D RGD:9068941 20200609 RGD PMID:23018837|REF_RGD_ID:11554170 11996480 RSAD2 radical S-adenosyl methionine domain containing 2 gene DOID:1273 respiratory syncytial virus infectious disease treatment ISO RGD:1345303 D RGD:9068941 20200609 RGD PMID:23018837|REF_RGD_ID:11554170 11996480 RSAD2 radical S-adenosyl methionine domain containing 2 gene DOID:6000 congestive heart failure ISO RGD:1345303 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 11996480 RSAD2 radical S-adenosyl methionine domain containing 2 gene DOID:630 genetic disease ISO RGD:1345303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996480 RSAD2 radical S-adenosyl methionine domain containing 2 gene DOID:9001488 Human Influenza ISO RGD:1345303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 11996480 RSAD2 radical S-adenosyl methionine domain containing 2 gene DOID:9006205 Animal Disease Models ISO RGD:1345303 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 11996480 RSAD2 radical S-adenosyl methionine domain containing 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1345303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11996493 GPRIN2 G protein regulated inducer of neurite outgrowth 2 gene DOID:5419 schizophrenia ISO RGD:1318969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11996493 GPRIN2 G protein regulated inducer of neurite outgrowth 2 gene DOID:630 genetic disease ISO RGD:1318969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996540 POLD4 DNA polymerase delta 4, accessory subunit gene DOID:1059 intellectual disability ISO RGD:1318336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11996540 POLD4 DNA polymerase delta 4, accessory subunit gene DOID:630 genetic disease ISO RGD:1318336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996540 POLD4 DNA polymerase delta 4, accessory subunit gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1318336 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11996540 POLD4 DNA polymerase delta 4, accessory subunit gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1318336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11996553 SMPX small muscle protein X-linked gene DOID:0050566 X-linked nonsyndromic deafness ISO RGD:736270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked deafness 11996553 SMPX small muscle protein X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11996553 SMPX small muscle protein X-linked gene DOID:0111735 X-linked deafness 4 ISO RGD:736270 D RGD:7240710 20180130 OMIM 11996553 SMPX small muscle protein X-linked gene DOID:0111735 X-linked deafness 4 ISO RGD:736270 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: DEAFNESS, X-LINKED 6, PROGRESSIVE | ClinVar Annotator: match by term: Deafness, X-linked 4 PMID:21549336|PMID:21549342|PMID:22911656|PMID:25741868|PMID:28492532|PMID:8872482 11996553 SMPX small muscle protein X-linked gene DOID:12849 autistic disorder ISO RGD:736270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11996553 SMPX small muscle protein X-linked gene DOID:630 genetic disease ISO RGD:736270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996553 SMPX small muscle protein X-linked gene DOID:9003346 Distal Myopathy 7 ISO RGD:736270 D RGD:7240710 20220427 OMIM 11996553 SMPX small muscle protein X-linked gene DOID:9003346 Distal Myopathy 7 ISO RGD:736270 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myopathy, distal, 7, adult-onset, X-linked PMID:28492532|PMID:33974137 11996553 SMPX small muscle protein X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11996553 SMPX small muscle protein X-linked gene DOID:9004538 Hearing Loss ISO RGD:736270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 11996567 EFHD1 EF-hand domain family member D1 gene DOID:0060476 Perlman syndrome ISO RGD:1350827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11996567 EFHD1 EF-hand domain family member D1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1350827 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11996567 EFHD1 EF-hand domain family member D1 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1350827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11996567 EFHD1 EF-hand domain family member D1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1350827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 11996567 EFHD1 EF-hand domain family member D1 gene DOID:630 genetic disease ISO RGD:1350827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996567 EFHD1 EF-hand domain family member D1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1350827 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11996578 TMEM71 transmembrane protein 71 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1606965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:28492532 11996578 TMEM71 transmembrane protein 71 gene DOID:14264 benign neonatal seizures ISO RGD:1606965 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:28492532|PMID:29383681|PMID:29852413 11996578 TMEM71 transmembrane protein 71 gene DOID:6000 congestive heart failure ISO RGD:1606965 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 11996578 TMEM71 transmembrane protein 71 gene DOID:630 genetic disease ISO RGD:1606965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996608 SEMA4D semaphorin 4D gene DOID:630 genetic disease ISO RGD:1321523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996712 CD4 CD4 molecule gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:735603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11996712 CD4 CD4 molecule gene DOID:0080600 COVID-19 severity ISO RGD:735603 D RGD:9068941 20200609 RGD protein:decreased expression:blood, T cell (human) PMID:32364527|REF_RGD_ID:27226699 11996712 CD4 CD4 molecule gene DOID:0080600 COVID-19 severity ISO RGD:735603 D RGD:9068941 20200618 RGD protein:decreased expression:serum, lung, T cell (human) PMID:32427582|REF_RGD_ID:30309200 11996712 CD4 CD4 molecule gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:735603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11996712 CD4 CD4 molecule gene DOID:0111621 Temtamy syndrome ISO RGD:735603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11996712 CD4 CD4 molecule gene DOID:0112277 immunodeficiency 79 ISO RGD:735603 D RGD:7240710 20210505 OMIM 11996712 CD4 CD4 molecule gene DOID:0112277 immunodeficiency 79 ISO RGD:735603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 79 PMID:25741868|PMID:31781092|PMID:33471124 11996712 CD4 CD4 molecule gene DOID:10303 sialadenitis treatment ISO RGD:2306 D RGD:9068941 20200609 RGD PMID:1828009|REF_RGD_ID:10059317 11996712 CD4 CD4 molecule gene DOID:11723 Duchenne muscular dystrophy ISO RGD:735603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641384 11996712 CD4 CD4 molecule gene DOID:12361 Graves' disease ISO RGD:735603 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 11996712 CD4 CD4 molecule gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:735603 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 11996712 CD4 CD4 molecule gene DOID:2988 antiphospholipid syndrome treatment ISO RGD:10309 D RGD:9068941 20200609 RGD PMID:7914411|REF_RGD_ID:10058961 11996712 CD4 CD4 molecule gene DOID:630 genetic disease ISO RGD:735603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996712 CD4 CD4 molecule gene DOID:7188 autoimmune thyroiditis treatment ISO RGD:10309 D RGD:9068941 20200609 RGD PMID:1680568|REF_RGD_ID:10058966 11996712 CD4 CD4 molecule gene DOID:813 septic arthritis treatment ISO RGD:2306 D RGD:9068941 20200609 RGD PMID:1730259|REF_RGD_ID:10058962 11996712 CD4 CD4 molecule gene DOID:9000571 AIDS-Related Opportunistic Infections ISO RGD:735603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9546790 11996712 CD4 CD4 molecule gene DOID:9002457 Experimental Arthritis treatment ISO RGD:10309 D RGD:9068941 20200609 RGD PMID:15479897|REF_RGD_ID:10058957 11996712 CD4 CD4 molecule gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2306 D RGD:9068941 20200609 RGD PMID:12010568|REF_RGD_ID:10058960 11996712 CD4 CD4 molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2306 D RGD:9068941 20200609 RGD protein:decreased expression:T lymphocyte: PMID:9138014|REF_RGD_ID:10058963 11996712 CD4 CD4 molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:2306 D RGD:9068941 20200609 RGD PMID:3097071|REF_RGD_ID:10058968 11996712 CD4 CD4 molecule gene DOID:9002955 Nerve Degeneration ISO RGD:735603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9546790 11996712 CD4 CD4 molecule gene DOID:9003223 Corneal Graft Rejection treatment ISO RGD:2306 D RGD:9068941 20200609 RGD PMID:1358194|REF_RGD_ID:10059315 11996712 CD4 CD4 molecule gene DOID:9003796 T-Cell OKT4 Deficiency ISO RGD:735603 D RGD:7240710 20180405 OMIM 11996712 CD4 CD4 molecule gene DOID:9003796 T-Cell OKT4 Deficiency ISO RGD:735603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Okt4 epitope deficiency PMID:1708753|PMID:1961196|PMID:25741868|PMID:33116287|PMID:7689618 11996712 CD4 CD4 molecule gene DOID:9004283 Transplant Rejection treatment ISO RGD:10309 D RGD:9068941 20200609 RGD PMID:11081762|REF_RGD_ID:10058974 11996712 CD4 CD4 molecule gene DOID:9004283 Transplant Rejection treatment ISO RGD:2306 D RGD:9068941 20200609 RGD PMID:1704648|REF_RGD_ID:10058956 11996712 CD4 CD4 molecule gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:735603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11996712 CD4 CD4 molecule gene DOID:9074 systemic lupus erythematosus treatment ISO RGD:10309 D RGD:9068941 20200609 RGD PMID:7914411|REF_RGD_ID:10058961 11996726 MOSMO modulator of smoothened gene DOID:0080114 mitochondrial complex III deficiency nuclear type 5 ISO RGD:2302534 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 5 PMID:25741868 11996726 MOSMO modulator of smoothened gene DOID:12849 autistic disorder ISO RGD:2302534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11996726 MOSMO modulator of smoothened gene DOID:5419 schizophrenia ISO RGD:2302534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:0060071 pre-malignant neoplasm ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24991542 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:0060390 distal 10q deletion syndrome ISO RGD:735904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.L53L, p.L84F (human) PMID:15885889|REF_RGD_ID:2317672 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:1240 leukemia ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16412662 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:12859 choreatic disease ISO RGD:735904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal dyskinesia PMID:32581362 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:1612 breast cancer severity ISO RGD:735904 D RGD:9068941 20200609 RGD protein:decreased expression:tumor (human) PMID:15741301|REF_RGD_ID:2317691 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:1612 breast cancer susceptibility ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.L84F, p.I143V (human) PMID:16014702|REF_RGD_ID:2317675 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:1793 pancreatic cancer ISO RGD:735904 D RGD:9068941 20200609 RGD protein:decreased expression:neuroendocrine tumor (human) PMID:19118063|REF_RGD_ID:2317628 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:1798 pancreatic endocrine carcinoma ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:14501508|REF_RGD_ID:2317661 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:1909 melanoma ISO RGD:3087 D RGD:9068941 20200609 RGD protein:increased activity:skin tumor (rat) PMID:20182810|REF_RGD_ID:2316960 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:234 colon adenocarcinoma ISO RGD:3087 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon (rat) PMID:16886601|REF_RGD_ID:1599637 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:2893 cervix carcinoma ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.I143V, p.K178R (human) PMID:17234722|REF_RGD_ID:2317690 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:2999 granulosa cell tumor ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:14970867|REF_RGD_ID:2317693 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:3068 glioblastoma ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20131314|PMID:22162573 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:3068 glioblastoma ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:transition:cds:p.L84F (human) PMID:14669534|REF_RGD_ID:2317667 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:3070 high grade glioma ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033832|PMID:16899598|PMID:19901110 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:3181 oligodendroglioma ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:15455350|REF_RGD_ID:2317688 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:3587 pancreatic ductal carcinoma ISO RGD:735904 D RGD:9068941 20200609 RGD protein:increased activity, increased expression:ductal adenocarcinoma (human) PMID:9393761|REF_RGD_ID:2317664 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:3587 pancreatic ductal carcinoma susceptibility ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L84F rs12917 (human) PMID:16844323|REF_RGD_ID:2317648 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25520135 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:735904 D RGD:9068941 20210430 RGD DNA, protein:hypermethylation, decreased expression:promoter, esophagus PMID:21674174|REF_RGD_ID:126790574 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:4947 cholangiocarcinoma ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:17550320|REF_RGD_ID:2317632 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24991542 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:5577 gastrinoma ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:hypomethylation:promoter (human) PMID:17278096|REF_RGD_ID:2317340 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:630 genetic disease ISO RGD:735904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:768 retinoblastoma disease_progression ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:15799820|REF_RGD_ID:2317684 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:9000011 Gallbladder Neoplasms disease_progression ISO RGD:735904 D RGD:9068941 20200609 RGD protein:decreased expression:tumor (human) PMID:18158568|REF_RGD_ID:2317637 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:9000011 Gallbladder Neoplasms resistance ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:transition:exon:EX5-25C>T rs12917 (human) PMID:18708406|REF_RGD_ID:2317636 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:9002801 Recurrence ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20131314 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:9002936 Bile Duct Neoplasms severity ISO RGD:735904 D RGD:9068941 20200609 RGD protein:decreased expression:carcinoma of extrahepatic bile duct (human) PMID:11986189|REF_RGD_ID:2317662 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:9004207 Testicular Neoplasms ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:12483540|REF_RGD_ID:2317686 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:9005749 Necrosis ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21619552 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26410583 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:9007364 Mouth Neoplasms ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24991542 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:9007502 Brain Neoplasms ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20131314 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:9007502 Brain Neoplasms ISO RGD:735904 D RGD:9068941 20200609 RGD associated with Neoplasm Metastasis; DNA:hypermethylation:promoter (human) PMID:19274096|REF_RGD_ID:2317681 11996739 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:9007787 Carcinoid Tumor ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:12584572|REF_RGD_ID:2317635 11996769 RRH retinal pigment epithelium-derived rhodopsin homolog gene DOID:630 genetic disease ISO RGD:1319017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996780 GRIK3 glutamate ionotropic receptor kainate type subunit 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:735713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11996780 GRIK3 glutamate ionotropic receptor kainate type subunit 3 gene DOID:5409 lung small cell carcinoma ISO RGD:735713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 11996780 GRIK3 glutamate ionotropic receptor kainate type subunit 3 gene DOID:630 genetic disease ISO RGD:735713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996800 PPIC peptidylprolyl isomerase C gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1344607 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11996800 PPIC peptidylprolyl isomerase C gene DOID:630 genetic disease ISO RGD:1344607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996800 PPIC peptidylprolyl isomerase C gene DOID:9000217 Stomach Neoplasms ISO RGD:1344607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11996800 PPIC peptidylprolyl isomerase C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11996800 PPIC peptidylprolyl isomerase C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344607 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11996800 PPIC peptidylprolyl isomerase C gene DOID:9007386 Congenital Lower Urinary Tract Obstruction ISO RGD:1344607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital PMID:31690835 11996809 ZC3H15 zinc finger CCCH-type containing 15 gene DOID:630 genetic disease ISO RGD:1601751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996809 ZC3H15 zinc finger CCCH-type containing 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11996823 DHPS deoxyhypusine synthase gene DOID:0050990 episodic ataxia type 2 ISO RGD:1602903 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11996823 DHPS deoxyhypusine synthase gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1602903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11996823 DHPS deoxyhypusine synthase gene DOID:0111254 glutaric acidemia I ISO RGD:1602903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 11996823 DHPS deoxyhypusine synthase gene DOID:3413 alpha-mannosidosis ISO RGD:1602903 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11996823 DHPS deoxyhypusine synthase gene DOID:630 genetic disease ISO RGD:1602903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11996823 DHPS deoxyhypusine synthase gene DOID:9000463 Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment ISO RGD:1602903 D RGD:7240710 20190807 OMIM 11996823 DHPS deoxyhypusine synthase gene DOID:9000463 Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment ISO RGD:1602903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and speech and walking impairment PMID:25741868|PMID:30661771 11996836 FGD4 FYVE, RhoGEF and PH domain containing 4 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:732078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:15744041|PMID:16199547|PMID:17564959|PMID:17564972|PMID:17576681|PMID:19221294|PMID:25741868|PMID:26400421|PMID:26467025|PMID:26957070|PMID:28492532|PMID:28902413|PMID:32376792|PMID:9536098 11996836 FGD4 FYVE, RhoGEF and PH domain containing 4 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:732078 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:15744041|PMID:16199547|PMID:17564959|PMID:17564972|PMID:17576681|PMID:19221294|PMID:25741868|PMID:26467025|PMID:26957070|PMID:28492532|PMID:28902413|PMID:32376792|PMID:9536098 11996836 FGD4 FYVE, RhoGEF and PH domain containing 4 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:732078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:15744041|PMID:16199547|PMID:17564959|PMID:17564972|PMID:17576681|PMID:19221294|PMID:20301641|PMID:25741868|PMID:26400421|PMID:26467025|PMID:26957070|PMID:28492532|PMID:28847448|PMID:28902413|PMID:31152969|PMID:32376792|PMID:9536098 11996836 FGD4 FYVE, RhoGEF and PH domain containing 4 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:732078 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:27066507|PMID:28492532 11996836 FGD4 FYVE, RhoGEF and PH domain containing 4 gene DOID:0110192 Charcot-Marie-Tooth disease type 4H ISO RGD:732078 D RGD:7240710 20180130 OMIM 11996836 FGD4 FYVE, RhoGEF and PH domain containing 4 gene DOID:0110192 Charcot-Marie-Tooth disease type 4H ISO RGD:732078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4H PMID:15744041|PMID:17564959|PMID:17564972|PMID:17576681|PMID:19221294|PMID:19332693|PMID:20301641|PMID:22734899|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792|PMID:9536098 11996836 FGD4 FYVE, RhoGEF and PH domain containing 4 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:15744041|PMID:17564959|PMID:17564972|PMID:19332693|PMID:20301641|PMID:22734899|PMID:23466821|PMID:23550889|PMID:24078732|PMID:25231362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792 11996836 FGD4 FYVE, RhoGEF and PH domain containing 4 gene DOID:630 genetic disease ISO RGD:732078 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792 11996857 OST4 oligosaccharyltransferase complex subunit 4, non-catalytic gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:3418321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 11996857 OST4 oligosaccharyltransferase complex subunit 4, non-catalytic gene DOID:630 genetic disease ISO RGD:3418321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996865 GPR153 G protein-coupled receptor 153 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1319513 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11996865 GPR153 G protein-coupled receptor 153 gene DOID:5419 schizophrenia ISO RGD:1319513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 11996865 GPR153 G protein-coupled receptor 153 gene DOID:630 genetic disease ISO RGD:1319513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996865 GPR153 G protein-coupled receptor 153 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11996865 GPR153 G protein-coupled receptor 153 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1319513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 11996875 SOAT1 sterol O-acyltransferase 1 gene DOID:10230 aortic atherosclerosis ameliorates ISO RGD:1552527 D RGD:9068941 20210514 RGD associated with Hypercholesterolemia PMID:30282838|REF_RGD_ID:126925208 11996875 SOAT1 sterol O-acyltransferase 1 gene DOID:1168 familial hyperlipidemia ISO RGD:731039 D RGD:9068941 20210514 RGD DNA:Missense mutations, haplotype:CDS:multiple (mouse) PMID:22022387|REF_RGD_ID:126925202 11996875 SOAT1 sterol O-acyltransferase 1 gene DOID:12140 Chagas disease ameliorates ISO RGD:731038 D RGD:9068941 20210514 RGD DNA:SNP:exon: rs1044925 (human) PMID:31236660|REF_RGD_ID:126925205 11996875 SOAT1 sterol O-acyltransferase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:731038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11996875 SOAT1 sterol O-acyltransferase 1 gene DOID:1936 atherosclerosis ameliorates ISO RGD:731039 D RGD:9068941 20210514 RGD myeloid knockout PMID:31495784|REF_RGD_ID:126925203 11996875 SOAT1 sterol O-acyltransferase 1 gene DOID:3345 xanthomatosis ISO RGD:731039 D RGD:9068941 20210514 RGD associated with atherosclerosis PMID:30354239|REF_RGD_ID:126925206 11996875 SOAT1 sterol O-acyltransferase 1 gene DOID:630 genetic disease ISO RGD:731038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996875 SOAT1 sterol O-acyltransferase 1 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:731038 D RGD:9068941 20210514 RGD associated with hepatitis B;protein:increased expression:liver (human) PMID:30814741|REF_RGD_ID:126925204 11996875 SOAT1 sterol O-acyltransferase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11996875 SOAT1 sterol O-acyltransferase 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:731038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11996875 SOAT1 sterol O-acyltransferase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11996875 SOAT1 sterol O-acyltransferase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731039 D RGD:9068941 20210514 RGD mRNA:increased expression:peritoneal macrophage (mouse) PMID:26606676|REF_RGD_ID:126925207 11996903 PLEKHG3 pleckstrin homology and RhoGEF domain containing G3 gene DOID:589 congenital hemolytic anemia ISO RGD:1346378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868 11996903 PLEKHG3 pleckstrin homology and RhoGEF domain containing G3 gene DOID:630 genetic disease ISO RGD:1346378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11996936 FAAP24 FA core complex associated protein 24 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1605898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11996936 FAAP24 FA core complex associated protein 24 gene DOID:630 genetic disease ISO RGD:1605898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996953 JCHAIN joining chain of multimeric IgA and IgM gene DOID:0080600 COVID-19 ISO RGD:1320892 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11996953 JCHAIN joining chain of multimeric IgA and IgM gene DOID:630 genetic disease ISO RGD:1320892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996953 JCHAIN joining chain of multimeric IgA and IgM gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1320892 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 11996972 RHOC ras homolog family member C gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1312711 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 11996972 RHOC ras homolog family member C gene DOID:13938 amenorrhea ISO RGD:1312711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11996972 RHOC ras homolog family member C gene DOID:1612 breast cancer severity ISO RGD:1312711 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:12237774|REF_RGD_ID:2298874 11996972 RHOC ras homolog family member C gene DOID:4001 ovarian carcinoma ISO RGD:1312711 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:12808121|REF_RGD_ID:2298873 11996972 RHOC ras homolog family member C gene DOID:630 genetic disease ISO RGD:1312711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11996972 RHOC ras homolog family member C gene DOID:9000965 Neoplasm Metastasis ISO RGD:1312711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18230616 11996972 RHOC ras homolog family member C gene DOID:9000965 Neoplasm Metastasis ISO RGD:1312711 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms PMID:12808121|REF_RGD_ID:2298873 11996972 RHOC ras homolog family member C gene DOID:9007102 Myocardial Ischemia ISO RGD:1312711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11997021 DSC3 desmocollin 3 gene DOID:1059 intellectual disability ISO RGD:1323416 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11997021 DSC3 desmocollin 3 gene DOID:630 genetic disease ISO RGD:1323416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11997021 DSC3 desmocollin 3 gene DOID:9000225 Hypotrichosis and Recurrent Skin Vesicles ISO RGD:1323416 D RGD:7240710 20180130 OMIM 11997021 DSC3 desmocollin 3 gene DOID:9000225 Hypotrichosis and Recurrent Skin Vesicles ISO RGD:1323416 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypotrichosis and recurrent skin vesicles PMID:19765682|PMID:25741868|PMID:31790667 11997021 DSC3 desmocollin 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1323416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16799634 11997044 MFN1 mitofusin 1 gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:731663 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 11997044 MFN1 mitofusin 1 gene DOID:0111546 Currarino syndrome ISO RGD:731663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11997044 MFN1 mitofusin 1 gene DOID:10652 Alzheimer's disease ISO RGD:731663 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus (human) PMID:19605646|REF_RGD_ID:7800727 11997044 MFN1 mitofusin 1 gene DOID:11394 adult respiratory distress syndrome treatment ISO RGD:621460 D RGD:9068941 20200609 RGD PMID:27830717|REF_RGD_ID:12910765 11997044 MFN1 mitofusin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:731664 D RGD:9068941 20200609 RGD with Mfn2 knockout PMID:22052916|REF_RGD_ID:11251967 11997044 MFN1 mitofusin 1 gene DOID:13711 dental fluorosis ISO RGD:621460 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:frontal cortex (rat) PMID:23007560|REF_RGD_ID:12738230 11997044 MFN1 mitofusin 1 gene DOID:1596 depressive disorder treatment ISO RGD:731664 D RGD:9068941 20200609 RGD PMID:22244747|REF_RGD_ID:13204844 11997044 MFN1 mitofusin 1 gene DOID:1824 status epilepticus ISO RGD:621460 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus (rat) PMID:27045873|REF_RGD_ID:12436727 11997044 MFN1 mitofusin 1 gene DOID:3021 acute kidney failure ISO RGD:621460 D RGD:9068941 20200609 RGD protein:decreased expression:kidney (rat) PMID:26480480|REF_RGD_ID:12910862 11997044 MFN1 mitofusin 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731663 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:22975021 11997044 MFN1 mitofusin 1 gene DOID:4483 rhinitis ISO RGD:621460 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:nasal cavity mucosa (rat) PMID:28146064|REF_RGD_ID:13204839 11997044 MFN1 mitofusin 1 gene DOID:630 genetic disease ISO RGD:731663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11997044 MFN1 mitofusin 1 gene DOID:6364 migraine ISO RGD:621460 D RGD:9068941 20200609 RGD protein:decreased expression:trigeminal ganglion (rat) PMID:27984195|REF_RGD_ID:12910755 11997044 MFN1 mitofusin 1 gene DOID:6432 pulmonary hypertension ISO RGD:621460 D RGD:9068941 20200609 RGD protein:decreased expression:heart right ventricle (rat) PMID:27422986|REF_RGD_ID:12910832 11997044 MFN1 mitofusin 1 gene DOID:6457 Cowden syndrome ISO RGD:731663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cowden syndrome PMID:28492532 11997044 MFN1 mitofusin 1 gene DOID:784 chronic kidney disease treatment ISO RGD:621460 D RGD:9068941 20200609 RGD PMID:27801955|REF_RGD_ID:12738369 11997044 MFN1 mitofusin 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:621460 D RGD:9068941 20200609 RGD protein:altered expression:spinal cord, mitochondrion (rat) PMID:26981103|REF_RGD_ID:12910837 11997044 MFN1 mitofusin 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:621460 D RGD:9068941 20200609 RGD PMID:26079325|REF_RGD_ID:12437066 11997044 MFN1 mitofusin 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:731664 D RGD:9068941 20200609 RGD PMID:28503736|REF_RGD_ID:12910714 11997044 MFN1 mitofusin 1 gene DOID:9004610 Acute Lung Injury ISO RGD:621460 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:lung (rat) PMID:25560372|REF_RGD_ID:12437080 11997044 MFN1 mitofusin 1 gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:621460 D RGD:9068941 20200609 RGD PMID:27491814|REF_RGD_ID:12910831 11997044 MFN1 mitofusin 1 gene DOID:9009105 HIV Encephalitis ISO RGD:731663 D RGD:9068941 20200609 RGD associated with HIV Infections;protein:increased expression:frontal cortex, membrane (human) PMID:26611103|REF_RGD_ID:12910851 11997044 MFN1 mitofusin 1 gene DOID:9009106 Acute Heart Injury ISO RGD:621460 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart (rat) PMID:25677476|REF_RGD_ID:12437078 11997072 MACIR macrophage immunometabolism regulator gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602449 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11997072 MACIR macrophage immunometabolism regulator gene DOID:0080600 COVID-19 ISO RGD:1602449 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11997072 MACIR macrophage immunometabolism regulator gene DOID:3068 glioblastoma ISO RGD:1602449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11997072 MACIR macrophage immunometabolism regulator gene DOID:3908 lung non-small cell carcinoma ISO RGD:1602449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11997072 MACIR macrophage immunometabolism regulator gene DOID:9000081 Lymphatic Metastasis ISO RGD:1602449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11997072 MACIR macrophage immunometabolism regulator gene DOID:9000117 Esophageal Neoplasms ISO RGD:1602449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11997072 MACIR macrophage immunometabolism regulator gene DOID:9002304 Prostatic Neoplasms ISO RGD:1602449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11997072 MACIR macrophage immunometabolism regulator gene DOID:9002762 Ovarian Neoplasms ISO RGD:1602449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11997072 MACIR macrophage immunometabolism regulator gene DOID:9002928 Colonic Neoplasms ISO RGD:1602449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11997072 MACIR macrophage immunometabolism regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11997072 MACIR macrophage immunometabolism regulator gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602449 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11997072 MACIR macrophage immunometabolism regulator gene DOID:9007188 Liver Neoplasms ISO RGD:1602449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11997072 MACIR macrophage immunometabolism regulator gene DOID:9008939 Breast Neoplasms ISO RGD:1602449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 11997095 GPR101 G protein-coupled receptor 101 gene DOID:0060022 CD40 ligand deficiency ISO RGD:1344763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11997095 GPR101 G protein-coupled receptor 101 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11997095 GPR101 G protein-coupled receptor 101 gene DOID:0060825 Christianson syndrome ISO RGD:1344763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11997095 GPR101 G protein-coupled receptor 101 gene DOID:0112007 growth hormone secreting pituitary adenoma 2 ISO RGD:1344763 D RGD:7240710 20180130 OMIM 11997095 GPR101 G protein-coupled receptor 101 gene DOID:0112007 growth hormone secreting pituitary adenoma 2 ISO RGD:1344763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary adenoma, growth hormone-secreting, 2 PMID:25470569|PMID:25806919|PMID:25806920|PMID:25806921|PMID:26792934|PMID:26815903|PMID:27245663|PMID:27498687|PMID:28492532|PMID:29389097 11997095 GPR101 G protein-coupled receptor 101 gene DOID:12849 autistic disorder ISO RGD:1344763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11997095 GPR101 G protein-coupled receptor 101 gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:1344763 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11997095 GPR101 G protein-coupled receptor 101 gene DOID:630 genetic disease ISO RGD:1344763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11997095 GPR101 G protein-coupled receptor 101 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1344763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11997095 GPR101 G protein-coupled receptor 101 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1344763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Visceral heterotaxia PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11997095 GPR101 G protein-coupled receptor 101 gene DOID:9007823 Chromosome Xq26.3 Duplication Syndrome ISO RGD:1344763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome PMID:25712922|PMID:26935837 11997098 LOC100973526 olfactory receptor 52J3 gene DOID:0080773 delta beta-thalassemia ISO RGD:1353752 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11997098 LOC100973526 olfactory receptor 52J3 gene DOID:630 genetic disease ISO RGD:1353752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11997101 FAM104B family with sequence similarity 104 member B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11997101 FAM104B family with sequence similarity 104 member B gene DOID:12849 autistic disorder ISO RGD:1353979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11997101 FAM104B family with sequence similarity 104 member B gene DOID:630 genetic disease ISO RGD:1353979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11997142 CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1342685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11997142 CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:1342685 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Tourette syndrome PMID:25590979|PMID:25741868|PMID:30257206 11997142 CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1342685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11997142 CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 gene DOID:630 genetic disease ISO RGD:1342685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11997142 CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1342685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11997142 CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1342685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11997142 CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1342685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11997192 NLRC4 NLR family CARD domain containing 4 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1320383 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis PMID:25741868 11997192 NLRC4 NLR family CARD domain containing 4 gene DOID:0090065 familial cold autoinflammatory syndrome 4 ISO RGD:1320383 D RGD:7240710 20180130 OMIM 11997192 NLRC4 NLR family CARD domain containing 4 gene DOID:0090065 familial cold autoinflammatory syndrome 4 ISO RGD:1320383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 PMID:16199547|PMID:17576681|PMID:24033266|PMID:25217959|PMID:25217960|PMID:25385754|PMID:25741868|PMID:27974463|PMID:28492532|PMID:29326099|PMID:29778503|PMID:30783801|PMID:30864118|PMID:32081864|PMID:33822359|PMID:34248956|PMID:9536098 11997192 NLRC4 NLR family CARD domain containing 4 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1320383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:25065914|PMID:25741868|PMID:28492532 11997192 NLRC4 NLR family CARD domain containing 4 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1320383 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:24033266|PMID:25741868|PMID:28492532 11997192 NLRC4 NLR family CARD domain containing 4 gene DOID:607 paraplegia ISO RGD:1320383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:32581362 11997192 NLRC4 NLR family CARD domain containing 4 gene DOID:630 genetic disease ISO RGD:1320383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11997192 NLRC4 NLR family CARD domain containing 4 gene DOID:9002798 Macrophage Activation Syndrome ISO RGD:1320383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25217959 11997192 NLRC4 NLR family CARD domain containing 4 gene DOID:9002805 Enterocolitis ISO RGD:1320383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25217960 11997192 NLRC4 NLR family CARD domain containing 4 gene DOID:9006364 Hereditary Autoinflammatory Diseases ISO RGD:1320383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25217959|PMID:25217960 11997192 NLRC4 NLR family CARD domain containing 4 gene DOID:9008410 Autoinflammation with Infantile Enterocolitis ISO RGD:1320383 D RGD:7240710 20180130 OMIM 11997192 NLRC4 NLR family CARD domain containing 4 gene DOID:9008410 Autoinflammation with Infantile Enterocolitis ISO RGD:1320383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis | ClinVar Annotator: match by term: Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) PMID:16199547|PMID:17576681|PMID:24033266|PMID:25217959|PMID:25217960|PMID:25385754|PMID:25741868|PMID:27974463|PMID:28492532|PMID:29326099|PMID:29778503|PMID:30319625|PMID:30783801|PMID:30864118|PMID:32081864|PMID:33822359|PMID:34248956|PMID:9536098 11997192 NLRC4 NLR family CARD domain containing 4 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1320383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11997208 ZNF200 zinc finger protein 200 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1349966 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11997208 ZNF200 zinc finger protein 200 gene DOID:1826 epilepsy ISO RGD:1349966 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11997208 ZNF200 zinc finger protein 200 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1349966 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11997208 ZNF200 zinc finger protein 200 gene DOID:630 genetic disease ISO RGD:1349966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11997243 ARHGAP23 Rho GTPase activating protein 23 gene DOID:0080600 COVID-19 ISO RGD:1320244 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11997243 ARHGAP23 Rho GTPase activating protein 23 gene DOID:11612 polycystic ovary syndrome ISO RGD:1320244 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11997243 ARHGAP23 Rho GTPase activating protein 23 gene DOID:630 genetic disease ISO RGD:1320244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11997259 DMXL1 Dmx like 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1317027 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11997259 DMXL1 Dmx like 1 gene DOID:3070 high grade glioma ISO RGD:1317027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16865689 11997259 DMXL1 Dmx like 1 gene DOID:630 genetic disease ISO RGD:1317027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11997259 DMXL1 Dmx like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11997259 DMXL1 Dmx like 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317027 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11997308 ARMC3 armadillo repeat containing 3 gene DOID:630 genetic disease ISO RGD:1312695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11997308 ARMC3 armadillo repeat containing 3 gene DOID:9008973 Familial Persistent Stuttering 4 ISO RGD:1312695 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Stuttering, familial persistent, 4 11997357 TMEM86B transmembrane protein 86B gene DOID:0110936 nemaline myopathy 5 ISO RGD:1603160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5 PMID:28492532 11997357 TMEM86B transmembrane protein 86B gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1603160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 11997357 TMEM86B transmembrane protein 86B gene DOID:630 genetic disease ISO RGD:1603160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11997364 RBPJL recombination signal binding protein for immunoglobulin kappa J region like gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1312429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 11997364 RBPJL recombination signal binding protein for immunoglobulin kappa J region like gene DOID:2234 focal epilepsy ISO RGD:1312429 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11997364 RBPJL recombination signal binding protein for immunoglobulin kappa J region like gene DOID:630 genetic disease ISO RGD:1312429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11997364 RBPJL recombination signal binding protein for immunoglobulin kappa J region like gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1312429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11997364 RBPJL recombination signal binding protein for immunoglobulin kappa J region like gene DOID:9352 type 2 diabetes mellitus ISO RGD:1312429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 11997396 UBL4A ubiquitin like 4A gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1348580 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11997396 UBL4A ubiquitin like 4A gene DOID:0050476 Barth syndrome ISO RGD:1348580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11997396 UBL4A ubiquitin like 4A gene DOID:0050800 creatine transporter deficiency ISO RGD:1348580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11997396 UBL4A ubiquitin like 4A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11997396 UBL4A ubiquitin like 4A gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1348580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 11997396 UBL4A ubiquitin like 4A gene DOID:0112003 immunodeficiency 33 ISO RGD:1348580 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11997396 UBL4A ubiquitin like 4A gene DOID:10588 adrenoleukodystrophy ISO RGD:1348580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11997396 UBL4A ubiquitin like 4A gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1348580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11997396 UBL4A ubiquitin like 4A gene DOID:12849 autistic disorder ISO RGD:1348580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11997396 UBL4A ubiquitin like 4A gene DOID:13628 favism ISO RGD:1348580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11997396 UBL4A ubiquitin like 4A gene DOID:2729 dyskeratosis congenita ISO RGD:1348580 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11997396 UBL4A ubiquitin like 4A gene DOID:607 paraplegia ISO RGD:1348580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11997396 UBL4A ubiquitin like 4A gene DOID:630 genetic disease ISO RGD:1348580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11997396 UBL4A ubiquitin like 4A gene DOID:9002720 Splenomegaly ISO RGD:1348580 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11997401 PADI6 peptidyl arginine deiminase 6 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1354366 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11997401 PADI6 peptidyl arginine deiminase 6 gene DOID:5426 primary ovarian insufficiency ISO RGD:1354366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:31042289 11997401 PADI6 peptidyl arginine deiminase 6 gene DOID:630 genetic disease ISO RGD:1354366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11997401 PADI6 peptidyl arginine deiminase 6 gene DOID:9000708 Oocyte/Zygote/Embryo Maturation Arrest 16 ISO RGD:1354366 D RGD:7240710 20190315 OMIM 11997401 PADI6 peptidyl arginine deiminase 6 gene DOID:9000708 Oocyte/Zygote/Embryo Maturation Arrest 16 ISO RGD:1354366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Preimplantation embryonic lethality 2 PMID:25741868|PMID:27545678|PMID:34987164 11997424 ABITRAM actin binding transcription modulator gene DOID:0080435 developmental and epileptic encephalopathy 37 ISO RGD:1352417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 PMID:28492532 11997424 ABITRAM actin binding transcription modulator gene DOID:630 genetic disease ISO RGD:1352417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11997434 PPP1R14A protein phosphatase 1 regulatory inhibitor subunit 14A gene DOID:10534 stomach cancer severity ISO RGD:733523 D RGD:9068941 20220616 RGD mRNA:altered expression:stomach tumor (human) PMID:28035468|REF_RGD_ID:152995287 11997434 PPP1R14A protein phosphatase 1 regulatory inhibitor subunit 14A gene DOID:630 genetic disease ISO RGD:733523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11997434 PPP1R14A protein phosphatase 1 regulatory inhibitor subunit 14A gene DOID:9003566 Mesothelioma ISO RGD:733523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18835652 11997434 PPP1R14A protein phosphatase 1 regulatory inhibitor subunit 14A gene DOID:9008443 Colorectal Neoplasms ISO RGD:733523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 11997443 NPRL3 NPR3 like, GATOR1 complex subunit gene DOID:1059 intellectual disability ISO RGD:1606330 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26285051|PMID:26505888|PMID:28492532 11997443 NPRL3 NPR3 like, GATOR1 complex subunit gene DOID:1826 epilepsy ISO RGD:1606330 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:16199547|PMID:25741868|PMID:26285051|PMID:26505888|PMID:28492532|PMID:32086284 11997443 NPRL3 NPR3 like, GATOR1 complex subunit gene DOID:630 genetic disease ISO RGD:1606330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11997443 NPRL3 NPR3 like, GATOR1 complex subunit gene DOID:9001601 Familial Focal Epilepsy, with Variable Foci 1 ISO RGD:1606330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11997443 NPRL3 NPR3 like, GATOR1 complex subunit gene DOID:9006565 Familial Focal Epilepsy, with Variable Foci 3 ISO RGD:1606330 D RGD:7240710 20190315 OMIM 11997443 NPRL3 NPR3 like, GATOR1 complex subunit gene DOID:9006565 Familial Focal Epilepsy, with Variable Foci 3 ISO RGD:1606330 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 3 PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:26285051|PMID:26505888|PMID:26786403|PMID:27173016|PMID:28492532|PMID:28726809|PMID:30093711|PMID:31594065|PMID:31639411|PMID:32086284|PMID:35136953|PMID:9536098 11997462 RPL12 ribosomal protein L12 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1314871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11997462 RPL12 ribosomal protein L12 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1314871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11997462 RPL12 ribosomal protein L12 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1314871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11997462 RPL12 ribosomal protein L12 gene DOID:630 genetic disease ISO RGD:1314871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11997462 RPL12 ribosomal protein L12 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11997462 RPL12 ribosomal protein L12 gene DOID:9074 systemic lupus erythematosus ISO RGD:1314871 D RGD:9068941 20200609 RGD PMID:11161982|REF_RGD_ID:11035232 11997487 C2CD4B C2 calcium dependent domain containing 4B gene DOID:11372 megacolon ISO RGD:1604924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11997487 C2CD4B C2 calcium dependent domain containing 4B gene DOID:2717 Bloom syndrome ISO RGD:1604924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11997487 C2CD4B C2 calcium dependent domain containing 4B gene DOID:630 genetic disease ISO RGD:1604924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11997487 C2CD4B C2 calcium dependent domain containing 4B gene DOID:9256 colorectal cancer ISO RGD:1604924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11997487 C2CD4B C2 calcium dependent domain containing 4B gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604924 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:20818381 11997502 AGRN agrin gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1606873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11997502 AGRN agrin gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606873 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11997502 AGRN agrin gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1606873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11997502 AGRN agrin gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1606873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11997502 AGRN agrin gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1606873 D RGD:7240710 20180808 OMIM 11997502 AGRN agrin gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1606873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:16199547|PMID:17576681|PMID:18414213|PMID:19631309|PMID:22205389|PMID:24951643|PMID:25741868|PMID:25741872|PMID:26467025|PMID:28221305|PMID:28492532|PMID:29258548|PMID:30994901|PMID:31167812|PMID:32221959|PMID:33059315|PMID:33756069|PMID:9536098 11997502 AGRN agrin gene DOID:0110994 Joubert syndrome 25 ISO RGD:1606873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11997502 AGRN agrin gene DOID:0111934 immunodeficiency 38 ISO RGD:1606873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11997502 AGRN agrin gene DOID:0111935 immunodeficiency 16 ISO RGD:1606873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11997502 AGRN agrin gene DOID:3635 congenital myasthenic syndrome ISO RGD:1606873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:19631309|PMID:22205389|PMID:24951643|PMID:28221305|PMID:28492532|PMID:30994901|PMID:33756069 11997502 AGRN agrin gene DOID:630 genetic disease ISO RGD:1606873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 11997502 AGRN agrin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11997502 AGRN agrin gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1606873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11997502 AGRN agrin gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1606873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11997502 AGRN agrin gene DOID:9119 acute myeloid leukemia ISO RGD:1606873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11997539 CCNT2 cyclin T2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1319417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 11997539 CCNT2 cyclin T2 gene DOID:630 genetic disease ISO RGD:1319417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11997566 CYYR1 cysteine and tyrosine rich 1 gene DOID:10652 Alzheimer's disease ISO RGD:1354035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562|PMID:25741868 11997566 CYYR1 cysteine and tyrosine rich 1 gene DOID:630 genetic disease ISO RGD:1354035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11997566 CYYR1 cysteine and tyrosine rich 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11997584 NELFA negative elongation factor complex member A gene DOID:1856 cherubism ISO RGD:1313651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 11997584 NELFA negative elongation factor complex member A gene DOID:630 genetic disease ISO RGD:1313651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11997625 PLPBP pyridoxal phosphate binding protein gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:1319041 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11997625 PLPBP pyridoxal phosphate binding protein gene DOID:0080769 early-onset vitamin B6-dependent epilepsy ISO RGD:1319041 D RGD:7240710 20190315 OMIM 11997625 PLPBP pyridoxal phosphate binding protein gene DOID:0080769 early-onset vitamin B6-dependent epilepsy ISO RGD:1319041 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epilepsy, early-onset, vitamin B6-dependent PMID:16199547|PMID:25741868|PMID:27912044|PMID:28391250|PMID:28492532|PMID:28914444|PMID:29689137|PMID:30160830|PMID:30525118|PMID:31687261|PMID:31737911|PMID:31741821|PMID:33766999|PMID:33977028 11997625 PLPBP pyridoxal phosphate binding protein gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1319041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 11997625 PLPBP pyridoxal phosphate binding protein gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1319041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 11997625 PLPBP pyridoxal phosphate binding protein gene DOID:607 paraplegia ISO RGD:1319041 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 11997625 PLPBP pyridoxal phosphate binding protein gene DOID:630 genetic disease ISO RGD:1319041 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:10534 stomach cancer ISO RGD:732178 D RGD:9068941 20200609 RGD mRNA:decreased expression:stomach (human) PMID:23808167|REF_RGD_ID:8548675 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:11394 adult respiratory distress syndrome ISO RGD:732178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:1205 allergic disease ISO RGD:2092 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16979157|REF_RGD_ID:1626088 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:736610 D RGD:9068941 20200609 RGD PMID:10913167|REF_RGD_ID:8548674 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:2349 arteriosclerosis ISO RGD:732178 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16127462|REF_RGD_ID:1626081 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:289 endometriosis ISO RGD:732178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25446850 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:4195 hyperglycemia ISO RGD:2092 D RGD:9068941 20200609 RGD protein:increased expression:brain, liver PMID:17211565|REF_RGD_ID:1626079 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:4500 hypokalemia ISO RGD:2092 D RGD:9068941 20200609 RGD PMID:17409277|REF_RGD_ID:1626084 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:630 genetic disease ISO RGD:732178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:684 hepatocellular carcinoma ISO RGD:2092 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:21683810|REF_RGD_ID:5509919 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:684 hepatocellular carcinoma ISO RGD:732178 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:19422879|REF_RGD_ID:8548685 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:83 cataract ISO RGD:2092 D RGD:9068941 20200609 RGD associated with Galactosemia PMID:17444799|REF_RGD_ID:1626083 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:83 cataract ISO RGD:732178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21329682|PMID:21376710|PMID:25541468|PMID:28137510 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:83 cataract ISO RGD:732178 D RGD:9068941 20200609 RGD human gene in mouse model PMID:21329682|REF_RGD_ID:8548638 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:83 cataract susceptibility ISO RGD:732178 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:promoter:repeat:g.(AC)n (human) PMID:24360973|REF_RGD_ID:8548672 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:83 cataract treatment ISO RGD:2092 D RGD:9068941 20200609 RGD PMID:18452283|REF_RGD_ID:8548671 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:8947 diabetic retinopathy ISO RGD:2092 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17003340|REF_RGD_ID:1626080 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:8947 diabetic retinopathy ISO RGD:2092 D RGD:9068941 20200609 RGD protein:increased expression:retinal astrocyte (rat) PMID:8150024|REF_RGD_ID:8548684 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:8947 diabetic retinopathy no_association ISO RGD:732178 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:promoter:repeat:g.-2008(AC)n (rs35839483) (human) PMID:21067572|REF_RGD_ID:8548676 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:732178 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:snp:promoter:g.-106C>T (human) PMID:16701918|REF_RGD_ID:8548668 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:732178 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;DNA:repeats, snp:promoter:multiple (human) PMID:19587357|REF_RGD_ID:8548640 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:9001542 Albuminuria ISO RGD:732178 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;human gene in a rat model PMID:12166624|REF_RGD_ID:8548813 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:9002165 Diabetic Nephropathies ISO RGD:732178 D RGD:9068941 20200609 RGD PMID:9215310|REF_RGD_ID:734542 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:732178 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:promoter:repeat:g.?(AC)n (human) PMID:9000706|REF_RGD_ID:8548641 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:9002211 Hyperalgesia ISO RGD:2092 D RGD:9068941 20200609 RGD associated with Hyperglycemia PMID:12505670|REF_RGD_ID:1626082 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:9002661 Diabetes Complications ISO RGD:732178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25304492|PMID:25541468 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:9005372 Inflammation ISO RGD:736610 D RGD:9068941 20200609 RGD PMID:17030682|REF_RGD_ID:1626087 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2092 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:8204669|REF_RGD_ID:8548781 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:9007102 Myocardial Ischemia ISO RGD:2092 D RGD:9068941 20200609 RGD protein:increased activity:heart PMID:16567803|REF_RGD_ID:1626092 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:9007715 Endometrial Neoplasms ISO RGD:732178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23146748 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:9008609 Endotoxin-Induced Uveitis treatment ISO RGD:2092 D RGD:9068941 20200609 RGD PMID:17898287|REF_RGD_ID:8548683 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:732178 D RGD:9068941 20200609 RGD DNA:repeat, snp:promoter:g.(AC)n, g.-106C>T (human) PMID:15569136|REF_RGD_ID:8548678 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:9743 diabetic neuropathy ISO RGD:2092 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16900242|REF_RGD_ID:1626089 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:9743 diabetic neuropathy susceptibility ISO RGD:732178 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:repeat:promoter:g.(CA)n (human) PMID:9489533|REF_RGD_ID:8548642 11997637 AKR1B1 aldo-keto reductase family 1 member B gene DOID:9870 galactosemia ISO RGD:2092 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell, lens PMID:16936110|REF_RGD_ID:1599728 11997651 TPO thyroid peroxidase gene DOID:0050328 congenital hypothyroidism ISO RGD:735786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:25741868 11997651 TPO thyroid peroxidase gene DOID:0070126 congenital nongoitrous hypothyroidism 1 ISO RGD:735786 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 PMID:25741868 11997651 TPO thyroid peroxidase gene DOID:0112186 thyroid dyshormonogenesis 2A ISO RGD:735786 D RGD:7240710 20180130 OMIM 11997651 TPO thyroid peroxidase gene DOID:0112186 thyroid dyshormonogenesis 2A ISO RGD:735786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2A | ClinVar Annotator: match by term: THYROID PEROXIDASE DEFICIENCY | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 2A PMID:10084596|PMID:10468986|PMID:11061528|PMID:11238503|PMID:11916616|PMID:12213873|PMID:12843174|PMID:12938097|PMID:1401057|PMID:14751036|PMID:15055360|PMID:15279913|PMID:15745925|PMID:17468186|PMID:17547680|PMID:18029453|PMID:23236987|PMID:23512414|PMID:24482635|PMID:24790296|PMID:25241611|PMID:25564141|PMID:25741868|PMID:26565538|PMID:27373559|PMID:27617131|PMID:28492532|PMID:29546359|PMID:30022773|PMID:30240412|PMID:31430255|PMID:32424871|PMID:32425884|PMID:32765423|PMID:34426522|PMID:35002963|PMID:7550241|PMID:8027236|PMID:8964831|PMID:9024270|PMID:9814507 11997651 TPO thyroid peroxidase gene DOID:1059 intellectual disability ISO RGD:735786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 11997651 TPO thyroid peroxidase gene DOID:12176 goiter ISO RGD:735786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12564727|PMID:14751036|PMID:17547680 11997651 TPO thyroid peroxidase gene DOID:12361 Graves' disease ISO RGD:735786 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 11997651 TPO thyroid peroxidase gene DOID:1459 hypothyroidism ISO RGD:12139633 D RGD:9068941 20230518 OMIA Hypothyroidism, congenital PMID:10088086|PMID:10340243|PMID:10340250|PMID:11316303|PMID:11860240|PMID:12125189|PMID:12219595|PMID:12416867|PMID:12564727|PMID:12741092|PMID:12892299|PMID:14518649|PMID:16300118|PMID:16451201|PMID:17197623|PMID:1748985|PMID:17619002|PMID:17619004|PMID:2061865|PMID:21541884|PMID:2307615|PMID:23113744|PMID:23223904|PMID:23683021|PMID:25290378|PMID:25555336|PMID:25958183|PMID:26261983|PMID:26401337|PMID:26401340|PMID:26478542|PMID:26696394|PMID:27267591|PMID:3223852|PMID:35610669|PMID:37167252|PMID:7695146|PMID:7730121|PMID:7744675|PMID:8091179|PMID:8116929|PMID:8175472|PMID:8496104|PMID:8592797|PMID:8731132|PMID:8799987|PMID:8885174|PMID:8913019|PMID:9282344|PMID:9444634|PMID:9503354|PMID:9590447|PMID:9682425 11997651 TPO thyroid peroxidase gene DOID:2921 glomerulonephritis ISO RGD:735786 D RGD:9068941 20200609 RGD PMID:8393543|REF_RGD_ID:7207483 11997651 TPO thyroid peroxidase gene DOID:417 autoimmune disease ISO RGD:735786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869686 11997651 TPO thyroid peroxidase gene DOID:630 genetic disease ISO RGD:735786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11997651 TPO thyroid peroxidase gene DOID:9000591 Congenital Nongoitrous Hypothyroidism ISO RGD:735786 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: TSH RESISTANCE PMID:25741868 11997651 TPO thyroid peroxidase gene DOID:9004283 Transplant Rejection ISO RGD:735786 D RGD:9068941 20200609 RGD PMID:19506389|REF_RGD_ID:7207487 11997651 TPO thyroid peroxidase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11997651 TPO thyroid peroxidase gene DOID:9007661 Dwarfism ISO RGD:735786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 11997651 TPO thyroid peroxidase gene DOID:9008086 Developmental Disabilities ISO RGD:735786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11997675 ZNF213 zinc finger protein 213 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1314237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11997675 ZNF213 zinc finger protein 213 gene DOID:1826 epilepsy ISO RGD:1314237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11997675 ZNF213 zinc finger protein 213 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1314237 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11997675 ZNF213 zinc finger protein 213 gene DOID:630 genetic disease ISO RGD:1314237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11997732 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:0050477 Liddle syndrome ISO RGD:11272 D RGD:9068941 20200609 RGD PMID:10589691|REF_RGD_ID:737753 11997732 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:0050477 Liddle syndrome ISO RGD:11272 D RGD:9068941 20220825 MouseDO OMIM:177200 11997732 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:0050477 Liddle syndrome ISO RGD:734263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18398334|PMID:19344079 11997732 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:0060041 autism spectrum disorder ISO RGD:734263 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11997732 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 ISO RGD:734263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 PMID:10523338|PMID:11439319|PMID:15661075|PMID:16207733|PMID:18507830|PMID:19017867|PMID:19462466|PMID:21504729|PMID:24033266|PMID:25333069|PMID:25741868|PMID:25900089|PMID:26038974|PMID:26467025|PMID:28492532|PMID:29580127|PMID:8589714|PMID:9118951|PMID:9576123|PMID:9674649 11997732 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:734263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:28492532 11997732 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:0080526 bronchiectasis 1 ISO RGD:734263 D RGD:7240710 20180130 OMIM 11997732 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:0080526 bronchiectasis 1 ISO RGD:734263 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 PMID:10362597|PMID:10523338|PMID:11439319|PMID:11478429|PMID:14645220|PMID:15661075|PMID:16207733|PMID:18507830|PMID:19017867|PMID:19462466|PMID:21504729|PMID:24033266|PMID:24093724|PMID:24474657|PMID:25333069|PMID:25741868|PMID:25900089|PMID:26038974|PMID:26075967|PMID:26467025|PMID:27582106|PMID:27896928|PMID:27900368|PMID:28492532|PMID:28915228|PMID:29580127|PMID:34076240|PMID:7777572|PMID:7954808|PMID:8589714|PMID:9118951|PMID:9576123|PMID:9674649 11997732 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:0080760 Fanconi renotubular syndrome 4 ISO RGD:734263 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young PMID:25741868 11997732 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:10763 hypertension ISO RGD:734263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15174897|PMID:15198480|PMID:19344079 11997732 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:1184 nephrotic syndrome ISO RGD:3640 D RGD:9068941 20200609 RGD PMID:15075188|REF_RGD_ID:1624161 11997732 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:1485 cystic fibrosis ISO RGD:11272 D RGD:9068941 20220825 MouseDO OMIM:219700 11997732 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:1485 cystic fibrosis ISO RGD:734263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16207733|PMID:16463024 11997732 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:2320 obstructive lung disease ISO RGD:734263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27982104 11997732 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:4479 pseudohypoaldosteronism ISO RGD:734263 D RGD:9068941 20200609 RGD PHA type I,OMIM:264350;DNA:point mutation:exon:G37S PMID:8589714|REF_RGD_ID:1624117 11997732 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:5419 schizophrenia ISO RGD:734263 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11997732 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:630 genetic disease ISO RGD:734263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11997732 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:850 lung disease ISO RGD:734263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16207733 11997732 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:9000057 Pseudohypoaldosteronism Type IB2, Autosomal Recessive ISO RGD:734263 D RGD:7240710 20221214 OMIM 11997732 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:9000057 Pseudohypoaldosteronism Type IB2, Autosomal Recessive ISO RGD:734263 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pseudohypoaldosteronism, type IB2, autosomal recessive PMID:21504729|PMID:8589714|PMID:9118951 11997732 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:9001087 Opsoclonus-Myoclonus Syndrome ISO RGD:734263 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome 11997732 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:9005031 Liddle Syndrome 1 ISO RGD:734263 D RGD:7240710 20190320 OMIM 11997732 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:9005031 Liddle Syndrome 1 ISO RGD:734263 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Liddle syndrome 1 PMID:10362597|PMID:10523338|PMID:11439319|PMID:11478429|PMID:14645220|PMID:15483078|PMID:15661075|PMID:16207733|PMID:18398334|PMID:18507830|PMID:19017867|PMID:19462466|PMID:21504729|PMID:21525970|PMID:22809657|PMID:24033266|PMID:24093724|PMID:24474657|PMID:25210634|PMID:25333069|PMID:25741868|PMID:25900089|PMID:26038974|PMID:26075967|PMID:26467025|PMID:27896928|PMID:27900368|PMID:28236585|PMID:28492532|PMID:28915228|PMID:29580127|PMID:7777572|PMID:7954808|PMID:8524790|PMID:8589714|PMID:8601645|PMID:9100575|PMID:9118951|PMID:9350583|PMID:9576123|PMID:9626162|PMID:9674649 11997732 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:9008622 Adrenal Insufficiency ISO RGD:734263 D RGD:9068941 20200609 RGD Liddle syndrome, OMIM:177200;DNA:point mutation:exon:R564X PMID:7954808|REF_RGD_ID:1624136 11997732 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:9675 pulmonary emphysema ISO RGD:734263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27982104 11997755 KIAA1755 KIAA1755 ortholog gene DOID:10283 prostate cancer ISO RGD:2289756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11997755 KIAA1755 KIAA1755 ortholog gene DOID:2234 focal epilepsy ISO RGD:2289756 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11997755 KIAA1755 KIAA1755 ortholog gene DOID:630 genetic disease ISO RGD:2289756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11997785 SYVN1 synoviolin 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11997785 SYVN1 synoviolin 1 gene DOID:1059 intellectual disability ISO RGD:1603603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11997785 SYVN1 synoviolin 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1603603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11997785 SYVN1 synoviolin 1 gene DOID:2746 glycogen storage disease V ISO RGD:1603603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11997785 SYVN1 synoviolin 1 gene DOID:3070 high grade glioma ISO RGD:1603603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11997785 SYVN1 synoviolin 1 gene DOID:630 genetic disease ISO RGD:1603603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11997815 C8A complement C8 alpha chain gene DOID:0060301 type I complement component 8 deficiency ISO RGD:1318077 D RGD:7240710 20180130 OMIM 11997815 C8A complement C8 alpha chain gene DOID:0060301 type I complement component 8 deficiency ISO RGD:1318077 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: COMPLEMENT COMPONENT 8, ALPHA SUBUNIT, A/B POLYMORPHISM | ClinVar Annotator: match by term: Type I complement component 8 deficiency PMID:24033266|PMID:25741868|PMID:28492532|PMID:7649542|PMID:975502|PMID:9759902 11997815 C8A complement C8 alpha chain gene DOID:5844 myocardial infarction ISO RGD:1308355 D RGD:9068941 20200609 RGD PMID:7515561|REF_RGD_ID:1600501 11997815 C8A complement C8 alpha chain gene DOID:612 primary immunodeficiency disease ISO RGD:1318077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9759902 11997815 C8A complement C8 alpha chain gene DOID:630 genetic disease ISO RGD:1318077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11997815 C8A complement C8 alpha chain gene DOID:9008538 Neisseriaceae Infections ISO RGD:1318077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9759902 11997815 C8A complement C8 alpha chain gene DOID:9471 meningitis ISO RGD:1318077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9759902 11997830 CYP3A5 cytochrome P450 family 3 subfamily A member 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1348646 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11997830 CYP3A5 cytochrome P450 family 3 subfamily A member 5 gene DOID:0060903 thrombosis ISO RGD:1348646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16754899 11997830 CYP3A5 cytochrome P450 family 3 subfamily A member 5 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma treatment ISO RGD:1348646 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:21225912|REF_RGD_ID:11353807 11997830 CYP3A5 cytochrome P450 family 3 subfamily A member 5 gene DOID:10825 essential hypertension ISO RGD:1348646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertension, salt-sensitive essential, susceptibility to PMID:11279519|PMID:11740341|PMID:12065767|PMID:12754175|PMID:15492926 11997830 CYP3A5 cytochrome P450 family 3 subfamily A member 5 gene DOID:10825 essential hypertension susceptibility ISO RGD:1348646 D RGD:7240710 20230505 OMIM 11997830 CYP3A5 cytochrome P450 family 3 subfamily A member 5 gene DOID:13580 cholestasis ISO RGD:68959 D RGD:9068941 20210528 CTD CTD Direct Evidence: marker/mechanism PMID:22461449 11997830 CYP3A5 cytochrome P450 family 3 subfamily A member 5 gene DOID:2527 nephrosis ISO RGD:708392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18725544 11997830 CYP3A5 cytochrome P450 family 3 subfamily A member 5 gene DOID:3602 toxic encephalopathy ISO RGD:1348646 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21225912 11997830 CYP3A5 cytochrome P450 family 3 subfamily A member 5 gene DOID:437 myasthenia gravis ISO RGD:1348646 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: refractory myasthenia gravis PMID:11279519|PMID:11740341|PMID:12065767|PMID:12754175|PMID:15492926 11997830 CYP3A5 cytochrome P450 family 3 subfamily A member 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11997830 CYP3A5 cytochrome P450 family 3 subfamily A member 5 gene DOID:557 kidney disease ISO RGD:1348646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18408564|PMID:20526235 11997830 CYP3A5 cytochrome P450 family 3 subfamily A member 5 gene DOID:630 genetic disease ISO RGD:1348646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11997830 CYP3A5 cytochrome P450 family 3 subfamily A member 5 gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:1348646 D RGD:9068941 20200609 RGD DNA:polymorphism:intron :6986A>G(human) PMID:21039054|REF_RGD_ID:11353798 11997830 CYP3A5 cytochrome P450 family 3 subfamily A member 5 gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:1348646 D RGD:9068941 20200609 RGD DNA:SNP::rs776746(human) PMID:19584153|REF_RGD_ID:11353810 11997830 CYP3A5 cytochrome P450 family 3 subfamily A member 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:68959 D RGD:9068941 20210528 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 11997830 CYP3A5 cytochrome P450 family 3 subfamily A member 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:708392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11997830 CYP3A5 cytochrome P450 family 3 subfamily A member 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18306354 11997830 CYP3A5 cytochrome P450 family 3 subfamily A member 5 gene DOID:9002867 Myeloid Leukemia, Chronic-Phase treatment ISO RGD:1348646 D RGD:9068941 20200609 RGD DNA:polymorphism:intron :6986A>G(human) PMID:23394475|REF_RGD_ID:11353797 11997830 CYP3A5 cytochrome P450 family 3 subfamily A member 5 gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia susceptibility ISO RGD:1348646 D RGD:9068941 20200609 RGD associated with breast neoplasm;DNA:polymorphism:splice junction:6986A>G(human) PMID:19332043|REF_RGD_ID:11353804 11997830 CYP3A5 cytochrome P450 family 3 subfamily A member 5 gene DOID:9004009 Reperfusion Injury ISO RGD:708392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22749977 11997830 CYP3A5 cytochrome P450 family 3 subfamily A member 5 gene DOID:9004289 Drug-Induced Leukopenia susceptibility ISO RGD:1348646 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms: DNA:polymorphism: : PMID:21702053|REF_RGD_ID:11353800 11997830 CYP3A5 cytochrome P450 family 3 subfamily A member 5 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:1348646 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms: DNA:polymorphism: : PMID:21702053|REF_RGD_ID:11353800 11997830 CYP3A5 cytochrome P450 family 3 subfamily A member 5 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:1348646 D RGD:9068941 20200609 RGD associated with breast neoplasm;DNA:polymorphism:splice junction:6986A>G(human) PMID:19332043|REF_RGD_ID:11353804 11997830 CYP3A5 cytochrome P450 family 3 subfamily A member 5 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:68959 D RGD:9068941 20210528 CTD CTD Direct Evidence: marker/mechanism PMID:22342832 11997830 CYP3A5 cytochrome P450 family 3 subfamily A member 5 gene DOID:9007153 Pediatric Crohn's Disease ISO RGD:1348646 D RGD:9068941 20200609 RGD mRNA:increased expression:duodenum:non-inflamed tissue PMID:16917230|REF_RGD_ID:5685614 11997830 CYP3A5 cytochrome P450 family 3 subfamily A member 5 gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:1348646 D RGD:9068941 20200609 RGD PMID:19650988|REF_RGD_ID:11353796 11997830 CYP3A5 cytochrome P450 family 3 subfamily A member 5 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:1348646 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:22215203|REF_RGD_ID:11353805 11997853 DCBLD2 discoidin, CUB and LCCL domain containing 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1346250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11997853 DCBLD2 discoidin, CUB and LCCL domain containing 2 gene DOID:630 genetic disease ISO RGD:1346250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11997853 DCBLD2 discoidin, CUB and LCCL domain containing 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1346250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18314483 11997874 RELL2 RELT like 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313209 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11997874 RELL2 RELT like 2 gene DOID:630 genetic disease ISO RGD:1313209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11997874 RELL2 RELT like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11997874 RELL2 RELT like 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313209 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11997897 ARHGAP19 Rho GTPase activating protein 19 gene DOID:630 genetic disease ISO RGD:1351019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11997918 S100A10 S100 calcium binding protein A10 gene DOID:0050902 medulloblastoma ISO RGD:733247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17579622 11997918 S100A10 S100 calcium binding protein A10 gene DOID:0111940 immunodeficiency 42 ISO RGD:733247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11997918 S100A10 S100 calcium binding protein A10 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:733247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11997918 S100A10 S100 calcium binding protein A10 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:733247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11997918 S100A10 S100 calcium binding protein A10 gene DOID:1540 parathyroid carcinoma ISO RGD:733247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11997918 S100A10 S100 calcium binding protein A10 gene DOID:1596 depressive disorder ISO RGD:733247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21682946 11997918 S100A10 S100 calcium binding protein A10 gene DOID:5812 MHC class II deficiency ISO RGD:733247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11997918 S100A10 S100 calcium binding protein A10 gene DOID:630 genetic disease ISO RGD:733247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11997918 S100A10 S100 calcium binding protein A10 gene DOID:9000058 Keloid ISO RGD:733247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 11997918 S100A10 S100 calcium binding protein A10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11997918 S100A10 S100 calcium binding protein A10 gene DOID:9006205 Animal Disease Models ISO RGD:733247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21682946 11997918 S100A10 S100 calcium binding protein A10 gene DOID:9119 acute myeloid leukemia ISO RGD:733247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11997918 S100A10 S100 calcium binding protein A10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11997918 S100a10 S100 calcium binding protein A10 gene DOID:1596 depressive disorder ISO RGD:628655 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:prefrontal cortex: PMID:21682946|REF_RGD_ID:9588311 11997934 PDGFB platelet derived growth factor subunit B gene DOID:0050127 sinusitis ISO RGD:737124 D RGD:9068941 20200609 RGD protein: increased expression: nasal cavity epithelium PMID:21255638|REF_RGD_ID:6483060 11997934 PDGFB platelet derived growth factor subunit B gene DOID:0050589 inflammatory bowel disease ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:11780721|REF_RGD_ID:6482691 11997934 PDGFB platelet derived growth factor subunit B gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:737124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11997934 PDGFB platelet derived growth factor subunit B gene DOID:0080600 COVID-19 severity ISO RGD:737124 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 11997934 PDGFB platelet derived growth factor subunit B gene DOID:0081267 graft-versus-host disease ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:21211989|REF_RGD_ID:6482796 11997934 PDGFB platelet derived growth factor subunit B gene DOID:10286 prostate carcinoma ISO RGD:11068 D RGD:9068941 20200609 RGD PMID:23297038|REF_RGD_ID:13506769 11997934 PDGFB platelet derived growth factor subunit B gene DOID:10652 Alzheimer's disease ISO RGD:737124 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:22279551|REF_RGD_ID:10449445 11997934 PDGFB platelet derived growth factor subunit B gene DOID:10763 hypertension ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:8869081|REF_RGD_ID:10449484 11997934 PDGFB platelet derived growth factor subunit B gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:737124 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:24334449|REF_RGD_ID:10449444 11997934 PDGFB platelet derived growth factor subunit B gene DOID:11132 prostatic hypertrophy ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:22689130|REF_RGD_ID:13506770 11997934 PDGFB platelet derived growth factor subunit B gene DOID:11832 visual epilepsy ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:14980813|REF_RGD_ID:1581758 11997934 PDGFB platelet derived growth factor subunit B gene DOID:12215 oligohydramnios ISO RGD:3283 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:17519529|REF_RGD_ID:2292203 11997934 PDGFB platelet derived growth factor subunit B gene DOID:127 leiomyoma ISO RGD:737124 D RGD:9068941 20200609 RGD protein:increased expression:myometrium PMID:16294022|REF_RGD_ID:2292153 11997934 PDGFB platelet derived growth factor subunit B gene DOID:13207 proliferative diabetic retinopathy ISO RGD:737124 D RGD:9068941 20200609 RGD protein:increased expression:vitreous: PMID:19799585|REF_RGD_ID:10449447 11997934 PDGFB platelet derived growth factor subunit B gene DOID:13208 background diabetic retinopathy ISO RGD:737124 D RGD:9068941 20200609 RGD protein:decreased expression:vitreous: PMID:19799585|REF_RGD_ID:10449447 11997934 PDGFB platelet derived growth factor subunit B gene DOID:13580 cholestasis ISO RGD:3283 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cholangiocyte, bible duct: PMID:10424289|REF_RGD_ID:10449495 11997934 PDGFB platelet derived growth factor subunit B gene DOID:182 calcinosis ISO RGD:737124 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25938945 11997934 PDGFB platelet derived growth factor subunit B gene DOID:2224 essential thrombocythemia ISO RGD:737124 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15682418 11997934 PDGFB platelet derived growth factor subunit B gene DOID:2696 Leydig cell tumor ISO RGD:737124 D RGD:9068941 20200609 RGD protein:increased expression:testis, leydig cell PMID:11994382|REF_RGD_ID:2298579 11997934 PDGFB platelet derived growth factor subunit B gene DOID:2841 asthma ISO RGD:11068 D RGD:9068941 20200609 RGD protein: increased expression PMID:21216974|REF_RGD_ID:6483071 11997934 PDGFB platelet derived growth factor subunit B gene DOID:2841 asthma ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:21216974|REF_RGD_ID:6483071 11997934 PDGFB platelet derived growth factor subunit B gene DOID:2921 glomerulonephritis treatment ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:11316849|REF_RGD_ID:10449490 11997934 PDGFB platelet derived growth factor subunit B gene DOID:3068 glioblastoma ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:21210235|REF_RGD_ID:6482799 11997934 PDGFB platelet derived growth factor subunit B gene DOID:3070 high grade glioma ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:21677873|REF_RGD_ID:13702897 11997934 PDGFB platelet derived growth factor subunit B gene DOID:3070 high grade glioma severity ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:26945107|PMID:27448842|REF_RGD_ID:13702895|REF_RGD_ID:13702896 11997934 PDGFB platelet derived growth factor subunit B gene DOID:3454 brain infarction ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:14980813|REF_RGD_ID:1581758 11997934 PDGFB platelet derived growth factor subunit B gene DOID:3507 dermatofibrosarcoma protuberans ISO RGD:737124 D RGD:7240710 20180130 OMIM 11997934 PDGFB platelet derived growth factor subunit B gene DOID:3507 dermatofibrosarcoma protuberans ISO RGD:737124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dermatofibrosarcoma protuberans PMID:28492532 11997934 PDGFB platelet derived growth factor subunit B gene DOID:3565 meningioma ISO RGD:737124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meningioma PMID:2212004|PMID:3133569|PMID:3969118 11997934 PDGFB platelet derived growth factor subunit B gene DOID:3594 choriocarcinoma ISO RGD:737124 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cytotrophoblast cell PMID:8504434|REF_RGD_ID:2292200 11997934 PDGFB platelet derived growth factor subunit B gene DOID:3770 pulmonary fibrosis ISO RGD:11068 D RGD:9068941 20200609 RGD PMID:21868503|PMID:22523431|REF_RGD_ID:6482756|REF_RGD_ID:6482831 11997934 PDGFB platelet derived growth factor subunit B gene DOID:3770 pulmonary fibrosis ISO RGD:737124 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15286697 11997934 PDGFB platelet derived growth factor subunit B gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:23879920|PMID:25766258|REF_RGD_ID:13504817|REF_RGD_ID:13506650 11997934 PDGFB platelet derived growth factor subunit B gene DOID:4586 familial meningioma ISO RGD:737124 D RGD:7240710 20230505 OMIM 11997934 PDGFB platelet derived growth factor subunit B gene DOID:4586 familial meningioma ISO RGD:737124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial meningioma PMID:25741868 11997934 PDGFB platelet derived growth factor subunit B gene DOID:4989 pancreatitis ISO RGD:737124 D RGD:9068941 20200609 RGD protein: increased expression: serum PMID:21750433|REF_RGD_ID:6483007 11997934 PDGFB platelet derived growth factor subunit B gene DOID:5082 liver cirrhosis ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:22407906|REF_RGD_ID:6482858 11997934 PDGFB platelet derived growth factor subunit B gene DOID:5082 liver cirrhosis ISO RGD:3283 D RGD:9068941 20200609 RGD mRNA: increased expression PMID:22539040|REF_RGD_ID:6482830 11997934 PDGFB platelet derived growth factor subunit B gene DOID:5199 ureteral obstruction ISO RGD:3283 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney: PMID:10644908|REF_RGD_ID:10449497 11997934 PDGFB platelet derived growth factor subunit B gene DOID:5679 retinal disease ISO RGD:737124 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11840346 11997934 PDGFB platelet derived growth factor subunit B gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11997934 PDGFB platelet derived growth factor subunit B gene DOID:630 genetic disease ISO RGD:737124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11997934 PDGFB platelet derived growth factor subunit B gene DOID:6432 pulmonary hypertension ISO RGD:11068 D RGD:9068941 20200609 RGD PMID:22523431|REF_RGD_ID:6482831 11997934 PDGFB platelet derived growth factor subunit B gene DOID:6432 pulmonary hypertension ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:21819559|PMID:8447423|REF_RGD_ID:1580847|REF_RGD_ID:6482859 11997934 PDGFB platelet derived growth factor subunit B gene DOID:6432 pulmonary hypertension ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:21819559|REF_RGD_ID:6482859 11997934 PDGFB platelet derived growth factor subunit B gene DOID:679 basal ganglia disease ISO RGD:737124 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25938945 11997934 PDGFB platelet derived growth factor subunit B gene DOID:684 hepatocellular carcinoma ISO RGD:737124 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20506153 11997934 PDGFB platelet derived growth factor subunit B gene DOID:7148 rheumatoid arthritis ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:1708827|REF_RGD_ID:6482653 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9000039 Spinal Cord Injuries ISO RGD:11068 D RGD:9068941 20200609 RGD PMID:21568693|REF_RGD_ID:6482306 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9000081 Lymphatic Metastasis ISO RGD:737124 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;mRNA:increased expression:lymph node PMID:17674348|REF_RGD_ID:2292173 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9000784 Fibrosis ISO RGD:11068 D RGD:9068941 20200609 RGD PMID:17195235|REF_RGD_ID:6482660 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9000784 Fibrosis ISO RGD:737124 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22004089 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9000784 Fibrosis ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:11780721|PMID:8644858|REF_RGD_ID:6482673|REF_RGD_ID:6482691 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9000965 Neoplasm Metastasis ISO RGD:737124 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;mRNA, protein:increased expression:breast PMID:16596190|REF_RGD_ID:2292179 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9000998 Brain Injuries ISO RGD:3283 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex, hippocampus PMID:9645955|REF_RGD_ID:11084932 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9001036 Penetrating Head Injuries ISO RGD:3283 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:7526956|REF_RGD_ID:10449485 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9001547 Tibial Fractures treatment ISO RGD:737124 D RGD:9068941 20200609 RGD associated with Osteoporosis; PMID:17676626|REF_RGD_ID:10449446 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9001600 Wounds and Injuries ISO RGD:3283 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:12533868|REF_RGD_ID:2292211 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9001600 Wounds and Injuries treatment ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:3280728|REF_RGD_ID:10449501 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:11889420|REF_RGD_ID:11080974 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:3283 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney: PMID:15785371|REF_RGD_ID:10449491 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9002165 Diabetic Nephropathies ISO RGD:737124 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin Dependent PMID:15067514|REF_RGD_ID:2311646 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9002231 Fetal Growth Retardation ISO RGD:737124 D RGD:9068941 20200609 RGD mRNA:increased expression:placenta PMID:11005132|REF_RGD_ID:2311066 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9002514 Neointima ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:8585266|REF_RGD_ID:10449489 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9002699 Periapical Diseases ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:17509411|REF_RGD_ID:10449488 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:16042218|REF_RGD_ID:11080975 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:10215166|REF_RGD_ID:10449494 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9004086 AIDS Dementia Complex ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:21368226|REF_RGD_ID:6482787 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9004237 Hyperoxic Lung Injury ISO RGD:3283 D RGD:9068941 20200609 RGD mRNA:increased expression:lung: PMID:2696512|REF_RGD_ID:10449500 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9004933 Idiopathic Basal Ganglia Calcification 5 ISO RGD:737124 D RGD:7240710 20180130 OMIM 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9004933 Idiopathic Basal Ganglia Calcification 5 ISO RGD:737124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 5 PMID:21409505|PMID:23913003|PMID:25741868 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9005372 Inflammation ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:11780721|REF_RGD_ID:6482691 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:11068 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina PMID:14685146|REF_RGD_ID:2311648 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:9763208|REF_RGD_ID:10449499 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3283 D RGD:9068941 20200609 RGD mRNA: increased expression: mesenteric artery PMID:21367419|REF_RGD_ID:6483042 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3283 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:8094359|REF_RGD_ID:2311650 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3283 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:12606528|REF_RGD_ID:1581759 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9006010 Gingival Hyperplasia ISO RGD:737124 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8708960 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:3283 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:tubule, S3 segment: PMID:10550325|REF_RGD_ID:8554477 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:737124 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23913003 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9008091 Optic Nerve Injuries ISO RGD:3283 D RGD:9068941 20200609 RGD protein:decreased expression:nerve fiber: PMID:9893812|REF_RGD_ID:10449496 11997934 PDGFB platelet derived growth factor subunit B gene DOID:9008691 Liver Injury ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:8119696|REF_RGD_ID:10449498 11997945 MMEL1 membrane metalloendopeptidase like 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1603610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11997945 MMEL1 membrane metalloendopeptidase like 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11997945 MMEL1 membrane metalloendopeptidase like 1 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1603610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11997945 MMEL1 membrane metalloendopeptidase like 1 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1603610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11997945 MMEL1 membrane metalloendopeptidase like 1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1603610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11997945 MMEL1 membrane metalloendopeptidase like 1 gene DOID:0111934 immunodeficiency 38 ISO RGD:1603610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11997945 MMEL1 membrane metalloendopeptidase like 1 gene DOID:0111935 immunodeficiency 16 ISO RGD:1603610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11997945 MMEL1 membrane metalloendopeptidase like 1 gene DOID:12236 primary biliary cholangitis ISO RGD:1603610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20639879 11997945 MMEL1 membrane metalloendopeptidase like 1 gene DOID:630 genetic disease ISO RGD:1603610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11997945 MMEL1 membrane metalloendopeptidase like 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1603610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 11997945 MMEL1 membrane metalloendopeptidase like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11997945 MMEL1 membrane metalloendopeptidase like 1 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1603610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 11997945 MMEL1 membrane metalloendopeptidase like 1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1603610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11997974 TYRO3 TYRO3 protein tyrosine kinase gene DOID:0060903 thrombosis ISO RGD:11467 D RGD:9068941 20200609 RGD PMID:15733062|REF_RGD_ID:1580531 11997974 TYRO3 TYRO3 protein tyrosine kinase gene DOID:0060903 thrombosis ISO RGD:736404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15733062 11997974 TYRO3 TYRO3 protein tyrosine kinase gene DOID:2717 Bloom syndrome ISO RGD:736404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11997974 TYRO3 TYRO3 protein tyrosine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 11997974 TYRO3 TYRO3 protein tyrosine kinase gene DOID:630 genetic disease ISO RGD:736404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11997974 TYRO3 TYRO3 protein tyrosine kinase gene DOID:9005851 46, XX Disorders of Sex Development ISO RGD:736404 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: 46,XX disorder of sex development 11997974 TYRO3 TYRO3 protein tyrosine kinase gene DOID:9256 colorectal cancer ISO RGD:736404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11997997 RNF141 ring finger protein 141 gene DOID:630 genetic disease ISO RGD:1350770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998022 NRDC nardilysin convertase gene DOID:630 genetic disease ISO RGD:731928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998061 BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 gene DOID:0050439 Usher syndrome ISO RGD:1350405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 11998061 BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1350405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 11998061 BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1350405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11998061 BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 gene DOID:630 genetic disease ISO RGD:1350405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998061 BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 gene DOID:9006949 Martsolf Syndrome ISO RGD:1350405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 11998061 BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1350405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11998061 BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11998082 TRPM6 transient receptor potential cation channel subfamily M member 6 gene DOID:0050572 cone-rod dystrophy ISO RGD:1320558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:28041643|PMID:32581362 11998082 TRPM6 transient receptor potential cation channel subfamily M member 6 gene DOID:0060883 intestinal hypomagnesemia 1 ISO RGD:1320558 D RGD:7240710 20180130 OMIM 11998082 TRPM6 transient receptor potential cation channel subfamily M member 6 gene DOID:0060883 intestinal hypomagnesemia 1 ISO RGD:1320558 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 PMID:12032568|PMID:12032570|PMID:14976260|PMID:16107578|PMID:23942199|PMID:24030239|PMID:24985022|PMID:25741868|PMID:26813946|PMID:28492532|PMID:33565749|PMID:34906502|PMID:9285786 11998082 TRPM6 transient receptor potential cation channel subfamily M member 6 gene DOID:0080598 Kleefstra syndrome 2 ISO RGD:1320558 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 2 PMID:25741868 11998082 TRPM6 transient receptor potential cation channel subfamily M member 6 gene DOID:630 genetic disease ISO RGD:1320558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33565749 11998082 TRPM6 transient receptor potential cation channel subfamily M member 6 gene DOID:896 metal metabolism disorder ISO RGD:1320558 D RGD:9068941 20200609 RGD hypomagnesemia with secondary hypocalcemia, OMIM:602014 PMID:12032568|REF_RGD_ID:1599669 11998082 TRPM6 transient receptor potential cation channel subfamily M member 6 gene DOID:9008296 Eye Abnormalities ISO RGD:1320558 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:28041643|PMID:32581362 11998150 UROD uroporphyrinogen decarboxylase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11998150 UROD uroporphyrinogen decarboxylase gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1351123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:28492532 11998150 UROD uroporphyrinogen decarboxylase gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1351123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11998150 UROD uroporphyrinogen decarboxylase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11998150 UROD uroporphyrinogen decarboxylase gene DOID:13268 porphyria severity ISO RGD:3946 D RGD:9068941 20200609 RGD PMID:3596746|REF_RGD_ID:21081511 11998150 UROD uroporphyrinogen decarboxylase gene DOID:1612 breast cancer ISO RGD:1351123 D RGD:9068941 20200609 RGD protein:increased activity:tumor:in tissue explant cultures of breast cancers and corresponding normal breast tissue PMID:2276414|REF_RGD_ID:2301374 11998150 UROD uroporphyrinogen decarboxylase gene DOID:3132 porphyria cutanea tarda ISO RGD:1351123 D RGD:7240710 20180130 OMIM 11998150 UROD uroporphyrinogen decarboxylase gene DOID:3132 porphyria cutanea tarda ISO RGD:1351123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial porphyria cutanea tarda | ClinVar Annotator: match by term: Porphyria cutanea tarda | ClinVar Annotator: match by term: UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY PMID:11069625|PMID:11295834|PMID:11719352|PMID:15186324|PMID:16199547|PMID:1634232|PMID:17240319|PMID:17576681|PMID:19233912|PMID:19419417|PMID:19656450|PMID:22382040|PMID:2243121|PMID:23545314|PMID:24777812|PMID:25741868|PMID:28492532|PMID:2892774|PMID:2920211|PMID:3775362|PMID:7706766|PMID:8644733|PMID:8896428|PMID:9536098|PMID:9792863 11998150 UROD uroporphyrinogen decarboxylase gene DOID:5230 hepatoerythropoietic porphyria ISO RGD:1351123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatoerythropoietic porphyria PMID:10980536|PMID:1634232|PMID:1905636|PMID:23545314|PMID:25741868|PMID:28492532|PMID:2892774|PMID:2920211|PMID:3775362|PMID:7706766|PMID:8644733 11998150 UROD uroporphyrinogen decarboxylase gene DOID:630 genetic disease ISO RGD:1351123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998150 UROD uroporphyrinogen decarboxylase gene DOID:9005584 Hepatic Porphyrias ISO RGD:3946 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:6721832|REF_RGD_ID:4144806 11998150 UROD uroporphyrinogen decarboxylase gene DOID:9005584 Hepatic Porphyrias ISO RGD:735366 D RGD:9068941 20200609 RGD protein:decreased activity:liver (mouse) PMID:3271868|REF_RGD_ID:4145290 11998150 UROD uroporphyrinogen decarboxylase gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1351123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21270338 11998150 UROD uroporphyrinogen decarboxylase gene DOID:9009031 Porphyria Cutanea Tarda, Type I ISO RGD:1351123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Porphyria cutanea tarda, type I PMID:25741868|PMID:28492532|PMID:8644733 11998191 UBE2E2 ubiquitin conjugating enzyme E2 E2 gene DOID:0050868 hepatocellular adenoma ISO RGD:1346022 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27914986 11998191 UBE2E2 ubiquitin conjugating enzyme E2 E2 gene DOID:630 genetic disease ISO RGD:1346022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998191 UBE2E2 ubiquitin conjugating enzyme E2 E2 gene DOID:684 hepatocellular carcinoma ISO RGD:1346022 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27914986 11998191 UBE2E2 ubiquitin conjugating enzyme E2 E2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346022 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20818381 11998201 CD99L2 CD99 molecule like 2 gene DOID:0050760 X-linked myopathy with excessive autophagy ISO RGD:735542 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 11998201 CD99L2 CD99 molecule like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11998201 CD99L2 CD99 molecule like 2 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:735542 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 11998201 CD99L2 CD99 molecule like 2 gene DOID:12849 autistic disorder ISO RGD:735542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11998201 CD99L2 CD99 molecule like 2 gene DOID:630 genetic disease ISO RGD:735542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998201 CD99L2 CD99 molecule like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 11998215 ADPRS ADP-ribosylserine hydrolase gene DOID:0070352 stress-induced childhood-onset neurodegeneration with variable ataxia and seizures ISO RGD:1319201 D RGD:7240710 20190315 OMIM 11998215 ADPRS ADP-ribosylserine hydrolase gene DOID:0070352 stress-induced childhood-onset neurodegeneration with variable ataxia and seizures ISO RGD:1319201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures PMID:25741868|PMID:30100084|PMID:30401461 11998215 ADPRS ADP-ribosylserine hydrolase gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11998215 ADPRS ADP-ribosylserine hydrolase gene DOID:10003 sensorineural hearing loss ISO RGD:1319201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment 11998215 ADPRS ADP-ribosylserine hydrolase gene DOID:630 genetic disease ISO RGD:1319201 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998231 SGO1 shugoshin 1 gene DOID:0060339 chronic atrial and intestinal dysrhythmia ISO RGD:1344948 D RGD:7240710 20180130 OMIM 11998231 SGO1 shugoshin 1 gene DOID:0060339 chronic atrial and intestinal dysrhythmia ISO RGD:1344948 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chronic atrial and intestinal dysrhythmia PMID:25282101|PMID:25741868 11998231 SGO1 shugoshin 1 gene DOID:5295 intestinal disease ISO RGD:1344948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25282101 11998231 SGO1 shugoshin 1 gene DOID:630 genetic disease ISO RGD:1344948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998231 SGO1 shugoshin 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1344948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25282101 11998231 SGO1 shugoshin 1 gene DOID:9004980 Chronobiology Disorders ISO RGD:1344948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25282101 11998243 GLT6D1 glycosyltransferase 6 domain containing 1 gene DOID:0050777 Joubert syndrome ISO RGD:1350682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11998243 GLT6D1 glycosyltransferase 6 domain containing 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1350682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 11998243 GLT6D1 glycosyltransferase 6 domain containing 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11998243 GLT6D1 glycosyltransferase 6 domain containing 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1350682 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11998243 GLT6D1 glycosyltransferase 6 domain containing 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1350682 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11998243 GLT6D1 glycosyltransferase 6 domain containing 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1350682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 11998243 GLT6D1 glycosyltransferase 6 domain containing 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1350682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 11998243 GLT6D1 glycosyltransferase 6 domain containing 1 gene DOID:3652 Leigh disease ISO RGD:1350682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11998243 GLT6D1 glycosyltransferase 6 domain containing 1 gene DOID:630 genetic disease ISO RGD:1350682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998243 GLT6D1 glycosyltransferase 6 domain containing 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1350682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 11998251 EIF4EBP2 eukaryotic translation initiation factor 4E binding protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1321949 D RGD:9068941 20220825 MouseDO 11998251 EIF4EBP2 eukaryotic translation initiation factor 4E binding protein 2 gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ISO RGD:1321948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 PMID:28492532 11998251 EIF4EBP2 eukaryotic translation initiation factor 4E binding protein 2 gene DOID:630 genetic disease ISO RGD:1321948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998251 EIF4EBP2 eukaryotic translation initiation factor 4E binding protein 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 11998251 EIF4EBP2 eukaryotic translation initiation factor 4E binding protein 2 gene DOID:9008288 Visceral Heterotaxy 5, Autosomal ISO RGD:1321948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal PMID:12447384|PMID:18579681|PMID:28492532 11998257 SLC27A5 solute carrier family 27 member 5 gene DOID:2661 myoepithelioma ISO RGD:1349953 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11998257 SLC27A5 solute carrier family 27 member 5 gene DOID:630 genetic disease ISO RGD:1349953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11998274 RPL39L ribosomal protein L39 like gene DOID:0060575 3MC syndrome 1 ISO RGD:1347635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 11998274 RPL39L ribosomal protein L39 like gene DOID:630 genetic disease ISO RGD:1347635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998281 NME9 NME/NM23 family member 9 gene DOID:630 genetic disease ISO RGD:1351445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998297 ELK3 ETS transcription factor ELK3 gene DOID:0060646 congenital chylothorax ISO RGD:1317144 D RGD:9068941 20220825 MouseDO OMIM:603523 11998297 ELK3 ETS transcription factor ELK3 gene DOID:630 genetic disease ISO RGD:1317143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998297 ELK3 ETS transcription factor ELK3 gene DOID:9008939 Breast Neoplasms ISO RGD:1317143 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16583263 11998297 ELK3 ETS transcription factor ELK3 gene DOID:9775 diastolic heart failure ISO RGD:1317143 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 11998306 KCNG3 potassium voltage-gated channel modifier subfamily G member 3 gene DOID:3883 Lynch syndrome ISO RGD:735863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11998306 KCNG3 potassium voltage-gated channel modifier subfamily G member 3 gene DOID:630 genetic disease ISO RGD:735863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998313 SSH1 slingshot protein phosphatase 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1345208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 11998313 SSH1 slingshot protein phosphatase 1 gene DOID:630 genetic disease ISO RGD:1345208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998313 SSH1 slingshot protein phosphatase 1 gene DOID:9002514 Neointima ISO RGD:1306038 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery PMID:21868701|REF_RGD_ID:11535005 11998342 ATRN attractin gene DOID:0090103 Huntington's disease-like 1 ISO RGD:69117 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11998342 ATRN attractin gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:69117 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11998342 ATRN attractin gene DOID:630 genetic disease ISO RGD:69117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11998342 ATRN attractin gene DOID:9000495 Tremor ISO RGD:69063 D RGD:9068941 20200609 RGD DNA:deletion:exon PMID:12379762|REF_RGD_ID:1299186 11998342 ATRN attractin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11998342 ATRN attractin gene DOID:9002955 Nerve Degeneration ISO RGD:69117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16860906 11998342 ATRN attractin gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:69117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 11998342 ATRN attractin gene DOID:9970 obesity ISO RGD:69118 D RGD:9068941 20200609 RGD PMID:10086355|REF_RGD_ID:734623 11998378 ACSS3 acyl-CoA synthetase short chain family member 3 gene DOID:630 genetic disease ISO RGD:1603012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998405 SLC43A2 solute carrier family 43 member 2 gene DOID:630 genetic disease ISO RGD:1350504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998405 SLC43A2 solute carrier family 43 member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11998421 CRX cone-rod homeobox gene DOID:0050439 Usher syndrome ISO RGD:733182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:25741868 11998421 CRX cone-rod homeobox gene DOID:0050572 cone-rod dystrophy ISO RGD:733182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CONE-ROD RETINAL DYSTROPHY | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:10874321|PMID:11971869|PMID:25741868|PMID:26992781|PMID:28492532|PMID:30718709|PMID:31626798|PMID:32533067|PMID:33691693|PMID:9390563 11998421 CRX cone-rod homeobox gene DOID:0050817 Stargardt disease ISO RGD:733182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:28492532|PMID:29555955|PMID:30718709|PMID:32533067|PMID:35934205 11998421 CRX cone-rod homeobox gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:733182 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:25741868|PMID:26355662|PMID:28492532|PMID:29641573|PMID:30718709|PMID:31626798|PMID:31630094|PMID:32865313 11998421 CRX cone-rod homeobox gene DOID:0110333 Leber congenital amaurosis 7 ISO RGD:733182 D RGD:7240710 20180130 OMIM 11998421 CRX cone-rod homeobox gene DOID:0110333 Leber congenital amaurosis 7 ISO RGD:733182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 7 PMID:10766140|PMID:10874321|PMID:10916183|PMID:11139241|PMID:11748859|PMID:11910559|PMID:11971869|PMID:12208271|PMID:12359607|PMID:12843339|PMID:15531334|PMID:15994872|PMID:16123401|PMID:16199547|PMID:17576681|PMID:17964524|PMID:18682808|PMID:20301475|PMID:20513135|PMID:21602930|PMID:22960069|PMID:22968130|PMID:23049240|PMID:23806086|PMID:24088041|PMID:24154662|PMID:24265693|PMID:24516401|PMID:25259927|PMID:25270190|PMID:25326637|PMID:25356976|PMID:25741868|PMID:26161267|PMID:26355662|PMID:26682157|PMID:26992781|PMID:27032803|PMID:27208204|PMID:27624628|PMID:28041643|PMID:28492532|PMID:28945142|PMID:28966547|PMID:29068479|PMID:29555955|PMID:29568065|PMID:29641573|PMID:29785639|PMID:29847639|PMID:30029497|PMID:30460480|PMID:30543658|PMID:30557390|PMID:30718709|PMID:30945053|PMID:31047384|PMID:31054281|PMID:31215831|PMID:31626798|PMID:31630094|PMID:31743059|PMID:32533067|PMID:32581362|PMID:32689858|PMID:32865313|PMID:32927963|PMID:33090715|PMID:33546218|PMID:33691693|PMID:35934205|PMID:9390563|PMID:9427255|PMID:9536098|PMID:9537410|PMID:9792858|PMID:9931337 11998421 CRX cone-rod homeobox gene DOID:0111005 cone-rod dystrophy 2 ISO RGD:733182 D RGD:7240710 20180130 OMIM 11998421 CRX cone-rod homeobox gene DOID:0111005 cone-rod dystrophy 2 ISO RGD:733182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 PMID:10766140|PMID:10874321|PMID:10916183|PMID:11139241|PMID:11748859|PMID:11971869|PMID:15531334|PMID:16123401|PMID:17964524|PMID:18682808|PMID:22960069|PMID:23049240|PMID:24265693|PMID:25741868|PMID:26161267|PMID:26355662|PMID:26682157|PMID:28492532|PMID:28945142|PMID:29068479|PMID:29785639|PMID:30543658|PMID:30718709|PMID:31054281|PMID:31215831|PMID:31626798|PMID:31630094|PMID:32533067|PMID:33546218|PMID:33691693|PMID:9390563|PMID:9427255|PMID:9792858 11998421 CRX cone-rod homeobox gene DOID:10283 prostate cancer ISO RGD:733182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11998421 CRX cone-rod homeobox gene DOID:10584 retinitis pigmentosa ISO RGD:733182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10766140|PMID:11139241|PMID:11748859|PMID:16123401|PMID:17964524|PMID:18682808|PMID:20513135|PMID:22960069|PMID:23049240|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:30460480|PMID:30718709|PMID:9427255|PMID:9792858 11998421 CRX cone-rod homeobox gene DOID:10584 retinitis pigmentosa ISO RGD:733182 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10766140|PMID:11139241|PMID:11748859|PMID:16123401|PMID:17964524|PMID:18682808|PMID:22960069|PMID:23049240|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:30460480|PMID:30718709|PMID:9427255|PMID:9792858 11998421 CRX cone-rod homeobox gene DOID:10584 retinitis pigmentosa ISO RGD:733182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10766140|PMID:11139241|PMID:11748859|PMID:16123401|PMID:17964524|PMID:18682808|PMID:20513135|PMID:22960069|PMID:23049240|PMID:25741868|PMID:26355662|PMID:27624628|PMID:28041643|PMID:28492532|PMID:30460480|PMID:30718709|PMID:31626798|PMID:33090715|PMID:9427255|PMID:9792858 11998421 CRX cone-rod homeobox gene DOID:14791 Leber congenital amaurosis ISO RGD:733182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:26872967|PMID:32165824 11998421 CRX cone-rod homeobox gene DOID:3529 central core disease ISO RGD:733182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central core myopathy PMID:11139241|PMID:16123401|PMID:17964524|PMID:23049240|PMID:25741868|PMID:28492532 11998421 CRX cone-rod homeobox gene DOID:4448 macular degeneration ISO RGD:733182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:28041643 11998421 CRX cone-rod homeobox gene DOID:630 genetic disease ISO RGD:733182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11998421 CRX cone-rod homeobox gene DOID:8466 retinal degeneration ISO RGD:733182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9792858 11998421 CRX cone-rod homeobox gene DOID:8501 fundus dystrophy ISO RGD:733182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10916183|PMID:11748859|PMID:11971869|PMID:21602930|PMID:24154662|PMID:24265693|PMID:24516401|PMID:25270190|PMID:25326637|PMID:25741868|PMID:26161267|PMID:27624628|PMID:28041643|PMID:28492532|PMID:29068479|PMID:29555955|PMID:29641573|PMID:29785639|PMID:30543658|PMID:31215831|PMID:31626798|PMID:31630094|PMID:32533067|PMID:32581362|PMID:32689858|PMID:32927963|PMID:33090715|PMID:33546218|PMID:9427255|PMID:9792858|PMID:9931337 11998421 CRX cone-rod homeobox gene DOID:9000341 Concentric Annular Macular Dystrophy ISO RGD:733182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign concentric annular macular dystrophy PMID:23806086|PMID:24088041|PMID:25259927|PMID:28492532 11998426 AKIRIN2 akirin 2 gene DOID:630 genetic disease ISO RGD:1317188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998426 AKIRIN2 akirin 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1307791 D RGD:9068941 20200609 RGD PMID:18460465|REF_RGD_ID:2306009 11998432 TECPR2 tectonin beta-propeller repeat containing 2 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1316735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 11998432 TECPR2 tectonin beta-propeller repeat containing 2 gene DOID:0110801 hereditary spastic paraplegia 49 ISO RGD:1316735 D RGD:7240710 20180130 OMIM 11998432 TECPR2 tectonin beta-propeller repeat containing 2 gene DOID:0110801 hereditary spastic paraplegia 49 ISO RGD:1316735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 49 | ClinVar Annotator: match by term: Inherited spastic paresis | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY PMID:16199547|PMID:17576681|PMID:23176824|PMID:25590979|PMID:25640679|PMID:25741868|PMID:26431026|PMID:26542466|PMID:27406698|PMID:28492532|PMID:28940097|PMID:29908077|PMID:30681437|PMID:32209221|PMID:32657593|PMID:33847017|PMID:9536098 11998432 TECPR2 tectonin beta-propeller repeat containing 2 gene DOID:10907 microcephaly ISO RGD:1316735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11998432 TECPR2 tectonin beta-propeller repeat containing 2 gene DOID:2367 neuroaxonal dystrophy ISO RGD:1316735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26555167 11998432 TECPR2 tectonin beta-propeller repeat containing 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1316735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17576681|PMID:25741868|PMID:27406698|PMID:28492532|PMID:29908077|PMID:30681437|PMID:32209221|PMID:32657593|PMID:33847017|PMID:9536098 11998432 TECPR2 tectonin beta-propeller repeat containing 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1316735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia PMID:17576681|PMID:23176824|PMID:25590979|PMID:25741868|PMID:27406698|PMID:28492532|PMID:29908077|PMID:30681437|PMID:32209221|PMID:32657593|PMID:33847017|PMID:9536098 11998432 TECPR2 tectonin beta-propeller repeat containing 2 gene DOID:630 genetic disease ISO RGD:1316735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29908077|PMID:32657593 11998432 TECPR2 tectonin beta-propeller repeat containing 2 gene DOID:9002598 Spastic Paraparesis ISO RGD:1316735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23176824 11998432 TECPR2 tectonin beta-propeller repeat containing 2 gene DOID:9005790 Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type ISO RGD:1316735 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, FRA12A type PMID:25741868|PMID:28492532 11998470 TJAP1 tight junction associated protein 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1318637 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11998470 TJAP1 tight junction associated protein 1 gene DOID:630 genetic disease ISO RGD:1318637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998470 TJAP1 tight junction associated protein 1 gene DOID:905 Zellweger syndrome ISO RGD:1318637 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11998496 PCP2 Purkinje cell protein 2 gene DOID:0080490 mucolipidosis type IV ISO RGD:1314709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11998496 PCP2 Purkinje cell protein 2 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1314709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 11998496 PCP2 Purkinje cell protein 2 gene DOID:630 genetic disease ISO RGD:1314709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998514 FRMPD1 FERM and PDZ domain containing 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1313132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11998514 FRMPD1 FERM and PDZ domain containing 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1313132 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11998514 FRMPD1 FERM and PDZ domain containing 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1313132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11998514 FRMPD1 FERM and PDZ domain containing 1 gene DOID:630 genetic disease ISO RGD:1313132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998514 FRMPD1 FERM and PDZ domain containing 1 gene DOID:687 hepatoblastoma ISO RGD:1313132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 11998514 FRMPD1 FERM and PDZ domain containing 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1305229 D RGD:9068941 20200609 RGD PMID:17404222|REF_RGD_ID:1601189 11998514 FRMPD1 FERM and PDZ domain containing 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11998514 FRMPD1 FERM and PDZ domain containing 1 gene DOID:9870 galactosemia ISO RGD:1313132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11998534 DHX58 DExH-box helicase 58 gene DOID:630 genetic disease ISO RGD:1603964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998560 RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 gene DOID:0050562 West syndrome ISO RGD:731635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile spasms PMID:32004447 11998560 RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:731635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile spasm PMID:32004447 11998560 RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 gene DOID:2843 long QT syndrome ISO RGD:731635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11998560 RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 gene DOID:630 genetic disease ISO RGD:731635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24768767|PMID:26615199 11998560 RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 gene DOID:9001503 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION ISO RGD:731635 D RGD:7240710 20220216 OMIM 11998560 RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 gene DOID:9001503 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION ISO RGD:731635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation PMID:25741868|PMID:32004447 11998560 RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:731635 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11998560 RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:731635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:32004447 11998616 PFN2 profilin 2 gene DOID:0050579 glycogen storage disease XV ISO RGD:734176 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 11998616 PFN2 profilin 2 gene DOID:630 genetic disease ISO RGD:734176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998616 PFN2 profilin 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:734176 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 11998625 SYNGR1 synaptogyrin 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:736639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11998625 SYNGR1 synaptogyrin 1 gene DOID:10283 prostate cancer ISO RGD:736639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11998625 SYNGR1 synaptogyrin 1 gene DOID:5419 schizophrenia ISO RGD:736639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:25741868 11998625 SYNGR1 synaptogyrin 1 gene DOID:630 genetic disease ISO RGD:736639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998625 SYNGR1 synaptogyrin 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:736639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26808113 11998625 SYNGR1 synaptogyrin 1 gene DOID:9119 acute myeloid leukemia ISO RGD:736639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 11998632 USP44 ubiquitin specific peptidase 44 gene DOID:630 genetic disease ISO RGD:1317864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998654 LOC100987303 SRY-box transcription factor 11 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:735735 D RGD:9068941 20220825 MouseDO OMIM:261800 11998659 TAT tyrosine aminotransferase gene DOID:0050725 tyrosinemia type II ISO RGD:736963 D RGD:7240710 20180214 OMIM 11998659 TAT tyrosine aminotransferase gene DOID:0050725 tyrosinemia type II ISO RGD:736963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tyrosinemia type II PMID:1357662|PMID:16199547|PMID:16917729|PMID:17576681|PMID:18577048|PMID:21145993|PMID:25741868|PMID:25784227|PMID:27285949|PMID:27832414|PMID:28255985|PMID:28492532|PMID:31737040|PMID:9536098|PMID:9544843 11998659 TAT tyrosine aminotransferase gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:736963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11998659 TAT tyrosine aminotransferase gene DOID:10907 microcephaly ISO RGD:736963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11998659 TAT tyrosine aminotransferase gene DOID:630 genetic disease ISO RGD:736963 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11998659 TAT tyrosine aminotransferase gene DOID:9275 tyrosinemia ISO RGD:736963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertyrosinemia 11998659 TAT tyrosine aminotransferase gene DOID:9275 tyrosinemia susceptibility ISO RGD:736963 D RGD:9068941 20200609 RGD DNA:point mutations PMID:1357662|REF_RGD_ID:1600125 11998678 INVS inversin gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1604022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 11998678 INVS inversin gene DOID:0080322 polycystic kidney disease severity ISO RGD:1557314 D RGD:9068941 20230107 RGD PMID:16999740|REF_RGD_ID:155794378 11998678 INVS inversin gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1604022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 11998678 INVS inversin gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1604022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 11998678 INVS inversin gene DOID:0111112 nephronophthisis 1 ISO RGD:1604022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:17855640|PMID:24033266|PMID:25741868|PMID:28492532 11998678 INVS inversin gene DOID:0111113 nephronophthisis 2 ISO RGD:1604022 D RGD:7240710 20180130 OMIM 11998678 INVS inversin gene DOID:0111113 nephronophthisis 2 ISO RGD:1604022 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Infantile nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 2, infantile PMID:12872123|PMID:15852005|PMID:16199547|PMID:16522655|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19177160|PMID:20798123|PMID:21866095|PMID:23559409|PMID:23713026|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26489027|PMID:2702088|PMID:28492532|PMID:30029678|PMID:31131822|PMID:32173348|PMID:32335886|PMID:33532864|PMID:34031707|PMID:34295353|PMID:34298581|PMID:9536098 11998678 INVS inversin gene DOID:1059 intellectual disability ISO RGD:1604022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11998678 INVS inversin gene DOID:10763 hypertension ISO RGD:1604022 D RGD:9068941 20230107 RGD associated with nephronophthisis 2; PMID:19177160|REF_RGD_ID:155791686 11998678 INVS inversin gene DOID:12712 nephronophthisis ISO RGD:1604022 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:12872123|PMID:16199547|PMID:16522655|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19177160|PMID:20798123|PMID:21866095|PMID:23559409|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26489027|PMID:26862157|PMID:28492532|PMID:33532864|PMID:34298581|PMID:9536098 11998678 INVS inversin gene DOID:12712 nephronophthisis ISO RGD:1604022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:11935322|PMID:12872123|PMID:15852005|PMID:16199547|PMID:16522655|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19177160|PMID:20798123|PMID:21866095|PMID:23559409|PMID:23713026|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26489027|PMID:26862157|PMID:2702088|PMID:28492532|PMID:30029678|PMID:31131822|PMID:32173348|PMID:32335886|PMID:33532864|PMID:34031707|PMID:34295353|PMID:34298581|PMID:9536098 11998678 INVS inversin gene DOID:12712 nephronophthisis ISO RGD:1604022 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:11935322|PMID:12872123|PMID:15852005|PMID:16199547|PMID:16522655|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19177160|PMID:20798123|PMID:21866095|PMID:23559409|PMID:23713026|PMID:24033266|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26489027|PMID:26862157|PMID:2702088|PMID:28492532|PMID:30029678|PMID:31131822|PMID:32173348|PMID:32335886|PMID:33532864|PMID:34031707|PMID:34295353|PMID:34298581|PMID:9536098 11998678 INVS inversin gene DOID:13580 cholestasis ISO RGD:1557314 D RGD:9068941 20230107 RGD PMID:10421642|REF_RGD_ID:155791685 11998678 INVS inversin gene DOID:14004 thoracic aortic aneurysm ISO RGD:1604022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 11998678 INVS inversin gene DOID:2975 cystic kidney disease ISO RGD:1557314 D RGD:9068941 20230107 RGD PMID:24586938|REF_RGD_ID:155794377 11998678 INVS inversin gene DOID:557 kidney disease ISO RGD:1604022 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:17855640|PMID:24033266|PMID:25741868|PMID:28492532 11998678 INVS inversin gene DOID:630 genetic disease ISO RGD:1604022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11998678 INVS inversin gene DOID:6419 tetralogy of Fallot ISO RGD:1557314 D RGD:9068941 20220825 MouseDO OMIM:187500 11998678 INVS inversin gene DOID:9004898 Jaundice ISO RGD:1557314 D RGD:9068941 20230107 RGD PMID:10421642|REF_RGD_ID:155791685 11998731 RBM46 RNA binding motif protein 46 gene DOID:630 genetic disease ISO RGD:1602830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998757 ZCCHC14 zinc finger CCHC-type containing 14 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1349569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 11998757 ZCCHC14 zinc finger CCHC-type containing 14 gene DOID:630 genetic disease ISO RGD:1349569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998757 ZCCHC14 zinc finger CCHC-type containing 14 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1349569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 11998757 ZCCHC14 zinc finger CCHC-type containing 14 gene DOID:9007096 Stroke ISO RGD:1349569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 11998777 HMGN5 high mobility group nucleosome binding domain 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1318685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11998777 HMGN5 high mobility group nucleosome binding domain 5 gene DOID:11054 urinary bladder cancer ISO RGD:1318685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22109888 11998777 HMGN5 high mobility group nucleosome binding domain 5 gene DOID:12849 autistic disorder ISO RGD:1318685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11998777 HMGN5 high mobility group nucleosome binding domain 5 gene DOID:3070 high grade glioma ISO RGD:1318685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22109888 11998777 HMGN5 high mobility group nucleosome binding domain 5 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1318685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28914995 11998777 HMGN5 high mobility group nucleosome binding domain 5 gene DOID:630 genetic disease ISO RGD:1318685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998777 HMGN5 high mobility group nucleosome binding domain 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22109888 11998789 CYP7B1 cytochrome P450 family 7 subfamily B member 1 gene DOID:0050674 congenital bile acid synthesis defect ISO RGD:735270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect PMID:25741868|PMID:28492532 11998789 CYP7B1 cytochrome P450 family 7 subfamily B member 1 gene DOID:0050952 spastic ataxia ISO RGD:735270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 11998789 CYP7B1 cytochrome P450 family 7 subfamily B member 1 gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:735270 D RGD:7240710 20180130 OMIM 11998789 CYP7B1 cytochrome P450 family 7 subfamily B member 1 gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:735270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A PMID:12874406|PMID:15007371|PMID:16199547|PMID:17576681|PMID:18252231|PMID:18855023|PMID:19187859|PMID:19363635|PMID:19439320|PMID:1943942|PMID:19439420|PMID:19812052|PMID:21214876|PMID:21452256|PMID:21541746|PMID:21567895|PMID:21623769|PMID:21966169|PMID:22384504|PMID:22652365|PMID:23812641|PMID:24033266|PMID:24117163|PMID:2411763|PMID:24340040|PMID:24519355|PMID:24658845|PMID:24927729|PMID:25326635|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26370385|PMID:26374131|PMID:26467025|PMID:26714052|PMID:27077743|PMID:27217339|PMID:27879216|PMID:27879220|PMID:27957547|PMID:28039895|PMID:28492532|PMID:28832565|PMID:29126212|PMID:29228183|PMID:29482223|PMID:29980238|PMID:31227335|PMID:31407473|PMID:32202070|PMID:7987300|PMID:9536098|PMID:9802883 11998789 CYP7B1 cytochrome P450 family 7 subfamily B member 1 gene DOID:0111070 congenital bile acid synthesis defect 3 ISO RGD:735270 D RGD:7240710 20180130 OMIM 11998789 CYP7B1 cytochrome P450 family 7 subfamily B member 1 gene DOID:0111070 congenital bile acid synthesis defect 3 ISO RGD:735270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect 3 PMID:18252231|PMID:18367963|PMID:19363635|PMID:19439420|PMID:19812052|PMID:21541746|PMID:21567895|PMID:21623769|PMID:23812641|PMID:24117163|PMID:24641183|PMID:25741868|PMID:28039895|PMID:28492532|PMID:29980238|PMID:9802883 11998789 CYP7B1 cytochrome P450 family 7 subfamily B member 1 gene DOID:13580 cholestasis ISO RGD:735270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9802883 11998789 CYP7B1 cytochrome P450 family 7 subfamily B member 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:735270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:12874406|PMID:15007371|PMID:18252231|PMID:18367963|PMID:18855023|PMID:19187859|PMID:19363635|PMID:19439420|PMID:19812052|PMID:21214876|PMID:21541746|PMID:21567895|PMID:21623769|PMID:21966169|PMID:22384504|PMID:23812641|PMID:24033266|PMID:24117163|PMID:2411763|PMID:24340040|PMID:24641183|PMID:24658845|PMID:24927729|PMID:25326635|PMID:25525159|PMID:25741868|PMID:26370385|PMID:26467025|PMID:26714052|PMID:27077743|PMID:27217339|PMID:27879216|PMID:27957547|PMID:28492532|PMID:28832565|PMID:29228183|PMID:29980238|PMID:7987300 11998789 CYP7B1 cytochrome P450 family 7 subfamily B member 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:735270 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:12874406|PMID:15007371|PMID:17576681|PMID:18252231|PMID:18367963|PMID:18855023|PMID:19187859|PMID:19363635|PMID:1943942|PMID:19439420|PMID:19812052|PMID:21214876|PMID:21541746|PMID:21567895|PMID:21623769|PMID:21966169|PMID:22384504|PMID:23812641|PMID:24033266|PMID:24117163|PMID:2411763|PMID:24340040|PMID:24641183|PMID:24658845|PMID:24927729|PMID:25326635|PMID:25525159|PMID:25741868|PMID:26370385|PMID:26467025|PMID:26714052|PMID:27077743|PMID:27217339|PMID:27879216|PMID:27879220|PMID:27957547|PMID:28039895|PMID:28492532|PMID:28832565|PMID:29126212|PMID:29228183|PMID:29246610|PMID:29980238|PMID:32202070|PMID:7987300|PMID:9536098|PMID:9802883 11998789 CYP7B1 cytochrome P450 family 7 subfamily B member 1 gene DOID:299 adenocarcinoma ISO RGD:735270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17639508 11998789 CYP7B1 cytochrome P450 family 7 subfamily B member 1 gene DOID:3146 lipid metabolism disorder ISO RGD:735270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18252231 11998789 CYP7B1 cytochrome P450 family 7 subfamily B member 1 gene DOID:409 liver disease ISO RGD:735270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9802883 11998789 CYP7B1 cytochrome P450 family 7 subfamily B member 1 gene DOID:607 paraplegia ISO RGD:735270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:15007371|PMID:16199547|PMID:17576681|PMID:18252231|PMID:18367963|PMID:18855023|PMID:19187859|PMID:19363635|PMID:19439320|PMID:1943942|PMID:19439420|PMID:19812052|PMID:21214876|PMID:21452256|PMID:21541746|PMID:21567895|PMID:21623769|PMID:21966169|PMID:22384504|PMID:22652365|PMID:23812641|PMID:24033266|PMID:24117163|PMID:2411763|PMID:24340040|PMID:24482476|PMID:24519355|PMID:24641183|PMID:24658845|PMID:24927729|PMID:25326635|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26370385|PMID:26374131|PMID:26467025|PMID:26714052|PMID:27077743|PMID:27217339|PMID:27879216|PMID:27879220|PMID:27957547|PMID:28039895|PMID:28492532|PMID:28832565|PMID:29126212|PMID:29228183|PMID:29246610|PMID:29482223|PMID:29980238|PMID:31227335|PMID:31407473|PMID:7987300|PMID:9536098|PMID:9802883 11998789 CYP7B1 cytochrome P450 family 7 subfamily B member 1 gene DOID:630 genetic disease ISO RGD:735270 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18367963|PMID:19363635|PMID:19439420|PMID:21541746|PMID:21567895|PMID:24117163|PMID:24641183|PMID:25741868|PMID:28039895|PMID:28492532|PMID:29980238|PMID:9802883 11998789 CYP7B1 cytochrome P450 family 7 subfamily B member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17639508 11998789 CYP7B1 cytochrome P450 family 7 subfamily B member 1 gene DOID:9452 fatty liver disease ISO RGD:735270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23391614 11998814 CPLX3 complexin 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604870 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11998814 CPLX3 complexin 3 gene DOID:2717 Bloom syndrome ISO RGD:1604870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11998814 CPLX3 complexin 3 gene DOID:5419 schizophrenia ISO RGD:1604870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11998814 CPLX3 complexin 3 gene DOID:630 genetic disease ISO RGD:1604870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998814 CPLX3 complexin 3 gene DOID:9256 colorectal cancer ISO RGD:1604870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11998846 CCDC71 coiled-coil domain containing 71 gene DOID:0060852 Pierson syndrome ISO RGD:1601742 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 11998846 CCDC71 coiled-coil domain containing 71 gene DOID:630 genetic disease ISO RGD:1601742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998846 CCDC71 coiled-coil domain containing 71 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1601742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11998857 AJM1 apical junction component 1 homolog gene DOID:0050777 Joubert syndrome ISO RGD:3302853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11998857 AJM1 apical junction component 1 homolog gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:3302853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11998857 AJM1 apical junction component 1 homolog gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:3302853 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11998857 AJM1 apical junction component 1 homolog gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:3302853 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11998857 AJM1 apical junction component 1 homolog gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:3302853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11998857 AJM1 apical junction component 1 homolog gene DOID:0080324 tuberous sclerosis 1 ISO RGD:3302853 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11998857 AJM1 apical junction component 1 homolog gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:3302853 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11998857 AJM1 apical junction component 1 homolog gene DOID:0080600 COVID-19 ISO RGD:3302853 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11998857 AJM1 apical junction component 1 homolog gene DOID:0081097 Rafiq syndrome ISO RGD:3302853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11998857 AJM1 apical junction component 1 homolog gene DOID:3652 Leigh disease ISO RGD:3302853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11998857 AJM1 apical junction component 1 homolog gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:3302853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11998864 INSC INSC spindle orientation adaptor protein gene DOID:1059 intellectual disability ISO RGD:1606091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11998864 INSC INSC spindle orientation adaptor protein gene DOID:630 genetic disease ISO RGD:1606091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998894 LOC100975117 histone H2A type 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1320935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11998894 LOC100975117 histone H2A type 3 gene DOID:630 genetic disease ISO RGD:1320935 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998894 LOC100975117 histone H2A type 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11998900 TMEM150A transmembrane protein 150A gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1605297 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 11998900 TMEM150A transmembrane protein 150A gene DOID:630 genetic disease ISO RGD:1605297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998935 DPF2 double PHD fingers 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1323292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11998935 DPF2 double PHD fingers 2 gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1323292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 1 PMID:25741868|PMID:29429572 11998935 DPF2 double PHD fingers 2 gene DOID:0112369 Coffin-Siris syndrome 7 ISO RGD:1323292 D RGD:7240710 20190315 OMIM 11998935 DPF2 double PHD fingers 2 gene DOID:0112369 Coffin-Siris syndrome 7 ISO RGD:1323292 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 7 PMID:25741868|PMID:28492532|PMID:29429572|PMID:29429672|PMID:31207137 11998935 DPF2 double PHD fingers 2 gene DOID:1059 intellectual disability ISO RGD:1323292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11998935 DPF2 double PHD fingers 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1323292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11998935 DPF2 double PHD fingers 2 gene DOID:2746 glycogen storage disease V ISO RGD:1323292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11998935 DPF2 double PHD fingers 2 gene DOID:3070 high grade glioma ISO RGD:1323292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 11998935 DPF2 double PHD fingers 2 gene DOID:630 genetic disease ISO RGD:1323292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:28533407|PMID:29429572 11998935 DPF2 double PHD fingers 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1323292 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11998935 DPF2 double PHD fingers 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1323292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 11998935 DPF2 double PHD fingers 2 gene DOID:9008582 Developmental Disease ISO RGD:1323292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11998959 TMUB1 transmembrane and ubiquitin like domain containing 1 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1349176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 11998959 TMUB1 transmembrane and ubiquitin like domain containing 1 gene DOID:2843 long QT syndrome ISO RGD:1349176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 11998959 TMUB1 transmembrane and ubiquitin like domain containing 1 gene DOID:630 genetic disease ISO RGD:1349176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11998971 PCDH19 protocadherin 19 gene DOID:0060041 autism spectrum disorder ISO RGD:1354208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11998971 PCDH19 protocadherin 19 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11998971 PCDH19 protocadherin 19 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1354208 D RGD:7240710 20180130 OMIM 11998971 PCDH19 protocadherin 19 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1354208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 | ClinVar Annotator: match by term: JUBERG-HELLMAN SYNDROME PMID:16199547|PMID:17576681|PMID:18234694|PMID:18414213|PMID:18469813|PMID:19214208|PMID:19377476|PMID:19752159|PMID:20713952|PMID:21053371|PMID:21480887|PMID:21519002|PMID:21777234|PMID:22050978|PMID:22267240|PMID:22504056|PMID:2267240|PMID:22848613|PMID:22946748|PMID:22949144|PMID:23066759|PMID:23334464|PMID:23708187|PMID:23712037|PMID:23808377|PMID:25227595|PMID:25326635|PMID:25499160|PMID:25640679|PMID:25741868|PMID:25891919|PMID:26467025|PMID:26704558|PMID:26765483|PMID:26954813|PMID:26993267|PMID:27029629|PMID:27143072|PMID:27179713|PMID:27527380|PMID:27787195|PMID:27864847|PMID:27884173|PMID:28102150|PMID:28334947|PMID:28462982|PMID:28492532|PMID:28669061|PMID:28690234|PMID:28837158|PMID:29056246|PMID:29064093|PMID:29301106|PMID:29358611|PMID:29377098|PMID:29655203|PMID:29763708|PMID:29866057|PMID:29933145|PMID:29933521|PMID:30287595|PMID:30451291|PMID:30530412|PMID:30828795|PMID:30945278|PMID:31031587|PMID:31054490|PMID:31139143|PMID:31175295|PMID:31302675|PMID:31319225|PMID:31487502|PMID:31618753|PMID:31665840|PMID:31714027|PMID:31901402|PMID:32146541|PMID:32189863|PMID:32366910|PMID:32425876|PMID:33262389|PMID:34008892|PMID:34082468|PMID:5116697|PMID:9536098 11998971 PCDH19 protocadherin 19 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1354208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 11998971 PCDH19 protocadherin 19 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1354208 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 11998971 PCDH19 protocadherin 19 gene DOID:1059 intellectual disability ISO RGD:1354208 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11998971 PCDH19 protocadherin 19 gene DOID:12849 autistic disorder ISO RGD:1354208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11998971 PCDH19 protocadherin 19 gene DOID:1826 epilepsy ISO RGD:1354208 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11998971 PCDH19 protocadherin 19 gene DOID:2234 focal epilepsy ISO RGD:1354208 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:25741868|PMID:28492532|PMID:29377098 11998971 PCDH19 protocadherin 19 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1354208 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:19214208|PMID:19752159|PMID:20713952|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 11998971 PCDH19 protocadherin 19 gene DOID:535 sleep disorder ISO RGD:1354208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sleep disturbance PMID:18414213|PMID:25741868|PMID:28492532 11998971 PCDH19 protocadherin 19 gene DOID:630 genetic disease ISO RGD:1354208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11736639|PMID:18234694|PMID:18414213|PMID:18469813|PMID:19214208|PMID:19377476|PMID:19752159|PMID:20713952|PMID:21053371|PMID:21480887|PMID:21519002|PMID:22267240|PMID:2267240|PMID:22848613|PMID:22946748|PMID:22949144|PMID:23066759|PMID:23334464|PMID:23708187|PMID:23712037|PMID:23808377|PMID:25741868|PMID:25891919|PMID:26467025|PMID:26765483|PMID:27179713|PMID:27527380|PMID:27787195|PMID:27884173|PMID:28462982|PMID:28492532|PMID:28669061|PMID:29064093|PMID:29301106|PMID:29358611|PMID:29377098|PMID:29866057|PMID:29933145|PMID:30287595|PMID:30530412|PMID:31302675|PMID:34082468 11998971 PCDH19 protocadherin 19 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:1354208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:25741868 11998971 PCDH19 protocadherin 19 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1354208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:26704558|PMID:28492532 11998971 PCDH19 protocadherin 19 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1354208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18469813 11998971 PCDH19 protocadherin 19 gene DOID:9007956 Febrile Seizures ISO RGD:1354208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex febrile seizure PMID:25741868 11998971 PCDH19 protocadherin 19 gene DOID:9008086 Developmental Disabilities ISO RGD:1354208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:18469813|PMID:21053371|PMID:22267240|PMID:22946748|PMID:23334464|PMID:25741868|PMID:27143072|PMID:27527380|PMID:28492532|PMID:5116697 11998971 PCDH19 protocadherin 19 gene DOID:9268 glycine encephalopathy ISO RGD:1354208 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:28492532 11998985 MTERF3 mitochondrial transcription termination factor 3 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1603051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant PMID:24442880|PMID:28492532 11998985 MTERF3 mitochondrial transcription termination factor 3 gene DOID:630 genetic disease ISO RGD:1603051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11999000 SPTLC3 serine palmitoyltransferase long chain base subunit 3 gene DOID:2491 sensory peripheral neuropathy ISO RGD:1351339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensory neuropathy PMID:23806086|PMID:24088041|PMID:26257172 11999000 SPTLC3 serine palmitoyltransferase long chain base subunit 3 gene DOID:630 genetic disease ISO RGD:1351339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11999017 FGG fibrinogen gamma chain gene DOID:0060903 thrombosis ISO RGD:731481 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Thrombus PMID:10688828|PMID:15795540|PMID:21228398|PMID:24033266|PMID:25741868|PMID:26105150|PMID:28211264|PMID:28492532|PMID:29240685|PMID:30349899|PMID:30431218|PMID:30487145|PMID:30632992|PMID:31064749|PMID:31295712|PMID:31479941|PMID:33477601 11999017 FGG fibrinogen gamma chain gene DOID:0112313 brain small vessel disease ISO RGD:731481 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotypes PMID:17951283|REF_RGD_ID:5688761 11999017 FGG fibrinogen gamma chain gene DOID:1247 blood coagulation disease ISO RGD:731481 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fibrinogen Milano XII, digenic PMID:11435303|PMID:25741868|PMID:28492532|PMID:31064749|PMID:34355501 11999017 FGG fibrinogen gamma chain gene DOID:1588 thrombocytopenia ISO RGD:731481 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10688828|PMID:15795540|PMID:21228398|PMID:24033266|PMID:25741868|PMID:26105150|PMID:28211264|PMID:28492532|PMID:29240685|PMID:30349899|PMID:30431218|PMID:30487145|PMID:30632992|PMID:31064749|PMID:31295712|PMID:31479941|PMID:33477601 11999017 FGG fibrinogen gamma chain gene DOID:2213 hemorrhagic disease ISO RGD:731481 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:10688828|PMID:15795540|PMID:21228398|PMID:23560673|PMID:24033266|PMID:24556703|PMID:25741868|PMID:26105150|PMID:28211264|PMID:28492532|PMID:29240685|PMID:30349899|PMID:30418131|PMID:30431218|PMID:30487145|PMID:30632992|PMID:31064749|PMID:31295712|PMID:31479941|PMID:33477601 11999017 FGG fibrinogen gamma chain gene DOID:2236 congenital afibrinogenemia ISO RGD:731481 D RGD:7240710 20180130 OMIM 11999017 FGG fibrinogen gamma chain gene DOID:2236 congenital afibrinogenemia ISO RGD:731481 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: FIBRINOGEN PARIS 1 | ClinVar Annotator: match by term: Hypofibrinogenemia PMID:10688828|PMID:10911375|PMID:11001902|PMID:11001903|PMID:11435303|PMID:1249208|PMID:1471077|PMID:15795540|PMID:16144795|PMID:1733971|PMID:17854317|PMID:21228398|PMID:21725578|PMID:23560673|PMID:24033266|PMID:24556703|PMID:2512677|PMID:25320241|PMID:25741868|PMID:26105150|PMID:2617471|PMID:28211264|PMID:28492532|PMID:29240685|PMID:29351094|PMID:2971042|PMID:2976995|PMID:30349899|PMID:30418131|PMID:30431218|PMID:30487145|PMID:30632992|PMID:31064749|PMID:31295712|PMID:31479941|PMID:3337908|PMID:33477601|PMID:34355501|PMID:3563970|PMID:4002201|PMID:4427684|PMID:6654188|PMID:6886002|PMID:7635941|PMID:7654933|PMID:8470043 11999017 FGG fibrinogen gamma chain gene DOID:2945 severe acute respiratory syndrome ISO RGD:10586 D RGD:9068941 20200625 RGD protein:increased expression:lung (mouse) PMID:23919993|REF_RGD_ID:30310231 11999017 FGG fibrinogen gamma chain gene DOID:4989 pancreatitis ISO RGD:2613 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, rough endoplasmic reticulum PMID:19954227|REF_RGD_ID:5688770 11999017 FGG fibrinogen gamma chain gene DOID:630 genetic disease ISO RGD:731481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10613648|PMID:18832913|PMID:3160702|PMID:7740487 11999017 FGG fibrinogen gamma chain gene DOID:9000058 Keloid ISO RGD:731481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 11999017 FGG fibrinogen gamma chain gene DOID:9000217 Stomach Neoplasms ISO RGD:731481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 11999017 FGG fibrinogen gamma chain gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:731481 D RGD:9068941 20200609 RGD PMID:17038160|REF_RGD_ID:11352673 11999017 FGG fibrinogen gamma chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2613 D RGD:9068941 20200609 RGD mRNA:increased expression PMID:17054587|REF_RGD_ID:1599810 11999017 FGG fibrinogen gamma chain gene DOID:9003121 Thromboembolism ISO RGD:731481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thromboembolism PMID:25741868|PMID:31064749 11999017 FGG fibrinogen gamma chain gene DOID:9003464 Congenital Dysfibrinogenemia ISO RGD:731481 D RGD:7240710 20180130 OMIM 11999017 FGG fibrinogen gamma chain gene DOID:9003464 Congenital Dysfibrinogenemia ISO RGD:731481 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Dysfibrinogenemia | ClinVar Annotator: match by term: Dysfibrinogenemia, congenital | ClinVar Annotator: match by term: FIBRINOGEN BALTIMORE 3 PMID:10911375|PMID:11435303|PMID:1733971|PMID:19923982|PMID:19949684|PMID:22836217|PMID:2328317|PMID:2496144|PMID:2512677|PMID:25741868|PMID:2617471|PMID:28492532|PMID:29351094|PMID:2971042|PMID:2976995|PMID:31064749|PMID:3175983|PMID:3337908|PMID:34355501|PMID:3563970|PMID:4002201|PMID:6654188|PMID:6886002|PMID:7635941|PMID:7654933 11999017 FGG fibrinogen gamma chain gene DOID:9004929 Congenital Hypodysfibrinogenemia ISO RGD:731481 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: FIBRINOGEN HAIFA 1 | ClinVar Annotator: match by term: FIBRINOGEN TOKYO 2 | ClinVar Annotator: match by term: Hypodysfibrinogenemia PMID:10911375|PMID:11344575|PMID:15632207|PMID:1733971|PMID:2512677|PMID:25741868|PMID:2617471|PMID:29351094|PMID:2971042|PMID:2976995|PMID:31064749|PMID:3337908|PMID:34355501|PMID:3563970|PMID:4002201|PMID:6654188|PMID:6886002|PMID:7635941|PMID:7654933 11999017 FGG fibrinogen gamma chain gene DOID:9005372 Inflammation treatment ISO RGD:2613 D RGD:9068941 20200609 RGD PMID:11490095|REF_RGD_ID:11352805 11999017 FGG fibrinogen gamma chain gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2613 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney PMID:21685370|REF_RGD_ID:7175292 11999017 FGG fibrinogen gamma chain gene DOID:9007096 Stroke susceptibility ISO RGD:731481 D RGD:9068941 20200609 RGD DNA:SNP:promoter:902A>G (rs1800792) (human) PMID:18278190|REF_RGD_ID:5688760 11999017 FGG fibrinogen gamma chain gene DOID:9008217 Hemorrhage ISO RGD:731481 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hemorrhage PMID:25741868 11999017 FGG fibrinogen gamma chain gene DOID:9008691 Liver Injury ISO RGD:2613 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:26314240|REF_RGD_ID:11352697 11999017 FGG fibrinogen gamma chain gene DOID:9352 type 2 diabetes mellitus ISO RGD:731481 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:7974333|REF_RGD_ID:2312416 11999017 FGG fibrinogen gamma chain gene DOID:9477 pulmonary embolism ISO RGD:2613 D RGD:9068941 20200609 RGD protein:increased expression:blood microparticle PMID:22014850|REF_RGD_ID:5688769 11999017 FGG fibrinogen gamma chain gene DOID:9538 multiple myeloma treatment ISO RGD:731481 D RGD:9068941 20200609 RGD PMID:22348216|REF_RGD_ID:11040544 11999017 FGG fibrinogen gamma chain gene DOID:9970 obesity ISO RGD:2613 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:22134356|REF_RGD_ID:11352709 11999035 PDZRN3 PDZ domain containing ring finger 3 gene DOID:630 genetic disease ISO RGD:1313169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11999035 PDZRN3 PDZ domain containing ring finger 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313169 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11999035 PDZRN3 PDZ domain containing ring finger 3 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1313169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 11999035 PDZRN3 PDZ domain containing ring finger 3 gene DOID:9007661 Dwarfism ISO RGD:1313169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11999050 SMG7 SMG7 nonsense mediated mRNA decay factor gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1321852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 11999050 SMG7 SMG7 nonsense mediated mRNA decay factor gene DOID:1540 parathyroid carcinoma ISO RGD:1321852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11999050 SMG7 SMG7 nonsense mediated mRNA decay factor gene DOID:630 genetic disease ISO RGD:1321852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11999050 SMG7 SMG7 nonsense mediated mRNA decay factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 11999050 SMG7 SMG7 nonsense mediated mRNA decay factor gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1321852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 11999050 SMG7 SMG7 nonsense mediated mRNA decay factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11999109 ZMYM4 zinc finger MYM-type containing 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11999109 ZMYM4 zinc finger MYM-type containing 4 gene DOID:630 genetic disease ISO RGD:1319940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11999153 FERMT1 FERM domain containing kindlin 1 gene DOID:0060472 Kindler syndrome ISO RGD:1315645 D RGD:7240710 20190315 OMIM 11999153 FERMT1 FERM domain containing kindlin 1 gene DOID:0060472 Kindler syndrome ISO RGD:1315645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kindler syndrome PMID:12668616|PMID:12789646|PMID:14507403|PMID:14962093|PMID:15313809|PMID:16199547|PMID:16675959|PMID:16702500|PMID:17178989|PMID:17460733|PMID:17916195|PMID:18528435|PMID:19292718|PMID:19762715|PMID:20938162|PMID:21336475|PMID:21936020|PMID:22220914|PMID:22466645|PMID:24346923|PMID:24635075|PMID:24635080|PMID:25156791|PMID:25437880|PMID:25599393|PMID:25741868|PMID:27293055|PMID:27862150|PMID:28443301|PMID:28492532|PMID:29130490|PMID:29453417|PMID:30838128|PMID:31340837|PMID:31957900 11999153 FERMT1 FERM domain containing kindlin 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1315645 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11999153 FERMT1 FERM domain containing kindlin 1 gene DOID:1272 telangiectasis ISO RGD:1315645 D RGD:9068941 20200609 RGD Kindler syndrome, OMIM:173650 DNA:point_mutation:CDS:C787T, amino acid Q263X PMID:12668616|REF_RGD_ID:1600405 11999153 FERMT1 FERM domain containing kindlin 1 gene DOID:2731 vesiculobullous skin disease ISO RGD:1315645 D RGD:9068941 20200609 RGD Kindler syndrome, OMIM:173650 DNA:point_mutation:CDS:C787T, amino acid Q263X PMID:12668616|REF_RGD_ID:1600405 11999153 FERMT1 FERM domain containing kindlin 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1315645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11999153 FERMT1 FERM domain containing kindlin 1 gene DOID:630 genetic disease ISO RGD:1315645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11999153 FERMT1 FERM domain containing kindlin 1 gene DOID:9004462 Atrophy ISO RGD:1315645 D RGD:9068941 20200609 RGD Kindler syndrome, OMIM:173650 DNA:point_mutation:CDS:C787T, amino acid Q263X PMID:12668616|REF_RGD_ID:1600405 11999153 FERMT1 FERM domain containing kindlin 1 gene DOID:9006976 Erythema ISO RGD:1315645 D RGD:9068941 20200609 RGD Kindler syndrome, OMIM:173650 DNA:point_mutation:CDS:C787T, amino acid Q263X PMID:12668616|REF_RGD_ID:1600405 11999211 SLC45A1 solute carrier family 45 member 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:731828 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11999211 SLC45A1 solute carrier family 45 member 1 gene DOID:1826 epilepsy ISO RGD:731828 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11999211 SLC45A1 solute carrier family 45 member 1 gene DOID:630 genetic disease ISO RGD:731828 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11999211 SLC45A1 solute carrier family 45 member 1 gene DOID:9003344 INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES ISO RGD:731828 D RGD:7240710 20190315 OMIM 11999211 SLC45A1 solute carrier family 45 member 1 gene DOID:9003344 INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES ISO RGD:731828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with neuropsychiatric features PMID:25741868|PMID:28434495 11999211 SLC45A1 solute carrier family 45 member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11999223 FAM228B family with sequence similarity 228 member B gene DOID:4990 essential tremor ISO RGD:2305665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 11999223 FAM228B family with sequence similarity 228 member B gene DOID:630 genetic disease ISO RGD:2305665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11999238 NAPB NSF attachment protein beta gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1317299 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:33189936 11999238 NAPB NSF attachment protein beta gene DOID:10283 prostate cancer ISO RGD:1317299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11999238 NAPB NSF attachment protein beta gene DOID:10652 Alzheimer's disease ISO RGD:1317299 D RGD:9068941 20200609 RGD protein:decreased expression:temporal cortex PMID:11244216|REF_RGD_ID:10412652 11999238 NAPB NSF attachment protein beta gene DOID:14250 Down syndrome ISO RGD:1317299 D RGD:9068941 20200609 RGD protein:decreased expression:temporal cortex PMID:11244216|REF_RGD_ID:10412652 11999238 NAPB NSF attachment protein beta gene DOID:630 genetic disease ISO RGD:1317299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11999238 NAPB NSF attachment protein beta gene DOID:9004803 Developmental and Epileptic Encephalopathy 107 ISO RGD:1317299 D RGD:7240710 20220921 OMIM 11999238 NAPB NSF attachment protein beta gene DOID:9004803 Developmental and Epileptic Encephalopathy 107 ISO RGD:1317299 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy-107 PMID:25741868|PMID:26235277|PMID:28097321|PMID:33189936 11999255 DDX51 DEAD-box helicase 51 gene DOID:1790 malignant mesothelioma ISO RGD:1319993 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 11999255 DDX51 DEAD-box helicase 51 gene DOID:630 genetic disease ISO RGD:1319993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11999255 DDX51 DEAD-box helicase 51 gene DOID:9256 colorectal cancer ISO RGD:1319993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 11999273 PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1349345 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11999273 PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:0112365 spondylocostal dysostosis 1 ISO RGD:1349345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive PMID:25741868|PMID:28492532 11999273 PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:10907 microcephaly ISO RGD:1349345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 11999273 PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:11193 syndactyly ISO RGD:1349345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndactyly PMID:25741868|PMID:28492532 11999273 PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1349345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11999273 PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1349345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11999273 PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:2340 craniosynostosis ISO RGD:1349345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 11999273 PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:630 genetic disease ISO RGD:1349345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11999273 PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1349345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11999273 PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 11999273 PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:9009169 LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA ISO RGD:1349345 D RGD:7240710 20190315 OMIM 11999273 PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:9009169 LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA ISO RGD:1349345 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia PMID:25741868|PMID:26573021|PMID:28492532|PMID:34326120 11999273 PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:9269 maple syrup urine disease ISO RGD:1349345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 11999273 PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349345 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11999301 ULK3 unc-51 like kinase 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1349871 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11999301 ULK3 unc-51 like kinase 3 gene DOID:2717 Bloom syndrome ISO RGD:1349871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11999301 ULK3 unc-51 like kinase 3 gene DOID:5419 schizophrenia ISO RGD:1349871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11999301 ULK3 unc-51 like kinase 3 gene DOID:630 genetic disease ISO RGD:1349871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11999301 ULK3 unc-51 like kinase 3 gene DOID:9256 colorectal cancer ISO RGD:1349871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11999330 TMTC2 transmembrane O-mannosyltransferase targeting cadherins 2 gene DOID:0080600 COVID-19 ISO RGD:1605852 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11999330 TMTC2 transmembrane O-mannosyltransferase targeting cadherins 2 gene DOID:630 genetic disease ISO RGD:1605852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11999330 TMTC2 transmembrane O-mannosyltransferase targeting cadherins 2 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss susceptibility ISO RGD:1605852 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs35725509(human) PMID:27311106|REF_RGD_ID:11252147 11999330 TMTC2 transmembrane O-mannosyltransferase targeting cadherins 2 gene DOID:9008681 Deafness ISO RGD:1605852 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27311106 11999357 OTX1 orthodenticle homeobox 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11999357 OTX1 orthodenticle homeobox 1 gene DOID:630 genetic disease ISO RGD:736236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11999366 KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:0050451 Brugada syndrome ISO RGD:1347000 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:19122847|PMID:19306396|PMID:23861362|PMID:25741868|PMID:28492532|PMID:28855170|PMID:29247119 11999366 KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:0050700 cardiomyopathy ISO RGD:1347000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16449802|PMID:17395131|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 11999366 KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1347000 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11999366 KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:0110223 Brugada syndrome 6 ISO RGD:1347000 D RGD:7240710 20180130 OMIM 11999366 KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:0110223 Brugada syndrome 6 ISO RGD:1347000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome 6 PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16313760|PMID:16449802|PMID:17395131|PMID:18209471|PMID:19122847|PMID:19306396|PMID:22987075|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28747690|PMID:28855170|PMID:29247119|PMID:30847666 11999366 KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:1059 intellectual disability ISO RGD:1347000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11999366 KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:14452 hypokalemic periodic paralysis ISO RGD:1347000 D RGD:9068941 20200609 RGD PMID:11207363|REF_RGD_ID:1600040 11999366 KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:2843 long QT syndrome ISO RGD:1347000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:25741868|PMID:28492532 11999366 KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:630 genetic disease ISO RGD:1347000 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11999366 KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1347000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16449802|PMID:17395131|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 11999366 KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:9000727 Syncope ISO RGD:1347000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syncope PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16449802|PMID:17395131|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 11999366 KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1347000 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:19122847|PMID:19306396|PMID:23861362|PMID:25741868|PMID:28492532|PMID:28855170|PMID:29247119 11999366 KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:9007560 Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities ISO RGD:1347000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | ClinVar Annotator: match by term: LIPOYLTRANSFERASE 2 DEFICIENCY PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16449802|PMID:17395131|PMID:19306396|PMID:22987075|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28747690 11999382 SMC3 structural maintenance of chromosomes 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1354451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11999382 SMC3 structural maintenance of chromosomes 3 gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1354451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 11999382 SMC3 structural maintenance of chromosomes 3 gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:1354451 D RGD:7240710 20190424 OMIM 11999382 SMC3 structural maintenance of chromosomes 3 gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:1354451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:17576681|PMID:18414213|PMID:24088041|PMID:25125236|PMID:25574841|PMID:25655089|PMID:25741868|PMID:25741869|PMID:26467025|PMID:26633542|PMID:26633545|PMID:28492532|PMID:30158690|PMID:31334757|PMID:9536098 11999382 SMC3 structural maintenance of chromosomes 3 gene DOID:1059 intellectual disability ISO RGD:1354451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26633542|PMID:28492532 11999382 SMC3 structural maintenance of chromosomes 3 gene DOID:11725 Cornelia de Lange syndrome ISO RGD:1354451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: De Lange syndrome PMID:18414213|PMID:25741868|PMID:28492532 11999382 SMC3 structural maintenance of chromosomes 3 gene DOID:630 genetic disease ISO RGD:1354451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:19344873|PMID:21139566|PMID:25125236|PMID:25655089|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28286005|PMID:28492532|PMID:28607419 11999382 SMC3 structural maintenance of chromosomes 3 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1354451 D RGD:9068941 20230223 RGD mRNA:increased editing:cds:p.K96R,p.Q103R(human) PMID:29996118|REF_RGD_ID:156430111 11999382 SMC3 structural maintenance of chromosomes 3 gene DOID:8692 myeloid leukemia ISO RGD:1354451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23955599 11999382 SMC3 structural maintenance of chromosomes 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 11999421 LOC100979261 T-cell surface glycoprotein CD3 gamma chain gene DOID:0060017 CD3epsilon deficiency ISO RGD:1317072 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11999421 LOC100979261 T-cell surface glycoprotein CD3 gamma chain gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1317072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11999421 LOC100979261 T-cell surface glycoprotein CD3 gamma chain gene DOID:0080690 RASopathy ISO RGD:1317072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11999421 LOC100979261 T-cell surface glycoprotein CD3 gamma chain gene DOID:0081330 glycogen storage disease Ib ISO RGD:1317072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 11999421 LOC100979261 T-cell surface glycoprotein CD3 gamma chain gene DOID:0110651 long QT syndrome 10 ISO RGD:1317072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11999421 LOC100979261 T-cell surface glycoprotein CD3 gamma chain gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1317072 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11999421 LOC100979261 T-cell surface glycoprotein CD3 gamma chain gene DOID:0111971 immunodeficiency 18 ISO RGD:1317072 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11999421 LOC100979261 T-cell surface glycoprotein CD3 gamma chain gene DOID:0111972 immunodeficiency 19 ISO RGD:1317072 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11999421 LOC100979261 T-cell surface glycoprotein CD3 gamma chain gene DOID:0111973 immunodeficiency 17 ISO RGD:1317072 D RGD:7240710 20180130 OMIM 11999421 LOC100979261 T-cell surface glycoprotein CD3 gamma chain gene DOID:0111973 immunodeficiency 17 ISO RGD:1317072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient | ClinVar Annotator: match by term: Immunodeficiency due to defect in CD3-gamma PMID:14602880|PMID:15546002|PMID:16199547|PMID:1635567|PMID:1709425|PMID:17277165|PMID:17576681|PMID:24033266|PMID:24216686|PMID:24910257|PMID:25373860|PMID:25741868|PMID:26822028|PMID:28492532|PMID:31921117|PMID:8490660|PMID:9536098 11999421 LOC100979261 T-cell surface glycoprotein CD3 gamma chain gene DOID:1059 intellectual disability ISO RGD:1317072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11999421 LOC100979261 T-cell surface glycoprotein CD3 gamma chain gene DOID:5810 adenosine deaminase deficiency ISO RGD:1317072 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Bubble boy disease PMID:1635567|PMID:17277165|PMID:24910257|PMID:28492532|PMID:31921117 11999421 LOC100979261 T-cell surface glycoprotein CD3 gamma chain gene DOID:627 severe combined immunodeficiency ISO RGD:1317072 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:1635567|PMID:17277165|PMID:24910257|PMID:28492532|PMID:31921117 11999421 LOC100979261 T-cell surface glycoprotein CD3 gamma chain gene DOID:630 genetic disease ISO RGD:1317072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11999421 LOC100979261 T-cell surface glycoprotein CD3 gamma chain gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1317072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11999421 LOC100979261 T-cell surface glycoprotein CD3 gamma chain gene DOID:9007661 Dwarfism ISO RGD:1317072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11999439 GAST gastrin gene DOID:299 adenocarcinoma ISO RGD:735826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3952654 11999439 GAST gastrin gene DOID:630 genetic disease ISO RGD:735826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11999439 GAST gastrin gene DOID:750 peptic ulcer disease ISO RGD:735826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10700044 11999439 GAST gastrin gene DOID:77 gastrointestinal system disease ISO RGD:735826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12729842 11999439 GAST gastrin gene DOID:9000217 Stomach Neoplasms ISO RGD:735826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15492468 11999439 GAST gastrin gene DOID:9002928 Colonic Neoplasms ISO RGD:735826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3952654 11999439 GAST gastrin gene DOID:9004009 Reperfusion Injury ISO RGD:735826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10594344 11999439 GAST gastrin gene DOID:9005172 Lung Neoplasms ISO RGD:735826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11208460 11999439 GAST gastrin gene DOID:9206 Barrett's esophagus ISO RGD:735826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15387324 11999448 FEZF2 FEZ family zinc finger 2 gene DOID:630 genetic disease ISO RGD:1346685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11999458 TLCD5 TLC domain containing 5 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1603164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 11999458 TLCD5 TLC domain containing 5 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1603164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11999458 TLCD5 TLC domain containing 5 gene DOID:0080690 RASopathy ISO RGD:1603164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11999458 TLCD5 TLC domain containing 5 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1603164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 11999458 TLCD5 TLC domain containing 5 gene DOID:0111971 immunodeficiency 18 ISO RGD:1603164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 11999458 TLCD5 TLC domain containing 5 gene DOID:0111972 immunodeficiency 19 ISO RGD:1603164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 11999458 TLCD5 TLC domain containing 5 gene DOID:0111973 immunodeficiency 17 ISO RGD:1603164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 11999458 TLCD5 TLC domain containing 5 gene DOID:13641 exfoliation syndrome ISO RGD:1603164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28553957 11999458 TLCD5 TLC domain containing 5 gene DOID:5419 schizophrenia ISO RGD:1603164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11999458 TLCD5 TLC domain containing 5 gene DOID:630 genetic disease ISO RGD:1603164 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11999458 TLCD5 TLC domain containing 5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11999458 TLCD5 TLC domain containing 5 gene DOID:9007661 Dwarfism ISO RGD:1603164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11999475 EMC1 ER membrane protein complex subunit 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1602125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11999475 EMC1 ER membrane protein complex subunit 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602125 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11999475 EMC1 ER membrane protein complex subunit 1 gene DOID:0080205 CAKUT ISO RGD:1602125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:26572623|PMID:26942288|PMID:27657687|PMID:28492532|PMID:29271071 11999475 EMC1 ER membrane protein complex subunit 1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1602125 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 11999475 EMC1 ER membrane protein complex subunit 1 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1602125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11999475 EMC1 ER membrane protein complex subunit 1 gene DOID:0081276 cerebellar atrophy, visual impairment, and psychomotor retardation ISO RGD:1602125 D RGD:7240710 20190315 OMIM 11999475 EMC1 ER membrane protein complex subunit 1 gene DOID:0081276 cerebellar atrophy, visual impairment, and psychomotor retardation ISO RGD:1602125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar atrophy, visual impairment, and psychomotor retardation | ClinVar Annotator: match by term: EMC1-Related Disorder PMID:16199547|PMID:25741868|PMID:26572623|PMID:26942288|PMID:27657687|PMID:28492532|PMID:29271071|PMID:30577886|PMID:31904590|PMID:32092440|PMID:33236988|PMID:34426522 11999475 EMC1 ER membrane protein complex subunit 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1602125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa PMID:23105016|PMID:28492532 11999475 EMC1 ER membrane protein complex subunit 1 gene DOID:10907 microcephaly ISO RGD:1602125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 11999475 EMC1 ER membrane protein complex subunit 1 gene DOID:630 genetic disease ISO RGD:1602125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26942288|PMID:28492532|PMID:30577886|PMID:31904590|PMID:33236988|PMID:34426522|PMID:9536098 11999475 EMC1 ER membrane protein complex subunit 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1602125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11999475 EMC1 ER membrane protein complex subunit 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1602125 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:26572623|PMID:26942288|PMID:28492532|PMID:29271071|PMID:32092440 11999475 EMC1 ER membrane protein complex subunit 1 gene DOID:9970 obesity ISO RGD:1602125 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Obesity PMID:26572623|PMID:26942288|PMID:28492532|PMID:29271071 11999513 VEPH1 ventricular zone expressed PH domain containing 1 gene DOID:630 genetic disease ISO RGD:1353776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11999553 SPP2 secreted phosphoprotein 2 gene DOID:0060476 Perlman syndrome ISO RGD:1344565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11999553 SPP2 secreted phosphoprotein 2 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1344565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11999553 SPP2 secreted phosphoprotein 2 gene DOID:630 genetic disease ISO RGD:1344565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11999565 MAP3K14 mitogen-activated protein kinase kinase kinase 14 gene DOID:12236 primary biliary cholangitis ISO RGD:1321417 D RGD:9068941 20220825 MouseDO OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221 11999565 MAP3K14 mitogen-activated protein kinase kinase kinase 14 gene DOID:12894 Sjogren's syndrome ISO RGD:1321417 D RGD:9068941 20220825 MouseDO OMIM:270150 11999565 MAP3K14 mitogen-activated protein kinase kinase kinase 14 gene DOID:630 genetic disease ISO RGD:1321416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11999585 TRAP1 TNF receptor associated protein 1 gene DOID:0080205 CAKUT ISO RGD:1346837 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:28492532|PMID:30143558 11999585 TRAP1 TNF receptor associated protein 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1346837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11999585 TRAP1 TNF receptor associated protein 1 gene DOID:14679 VACTERL association ISO RGD:1346837 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: VACTERL association PMID:25741868 11999585 TRAP1 TNF receptor associated protein 1 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1346837 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868 11999585 TRAP1 TNF receptor associated protein 1 gene DOID:1682 congenital heart disease ISO RGD:1346837 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 11999585 TRAP1 TNF receptor associated protein 1 gene DOID:1826 epilepsy ISO RGD:1346837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11999585 TRAP1 TNF receptor associated protein 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1346837 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11999585 TRAP1 TNF receptor associated protein 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1346837 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 PMID:12114483|PMID:15706485|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:21932317|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25741868|PMID:25805166|PMID:27257017|PMID:28492532|PMID:31566936|PMID:32170002|PMID:32594341|PMID:32827181 11999585 TRAP1 TNF receptor associated protein 1 gene DOID:3459 breast carcinoma ISO RGD:1346837 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: HER2 positive breast carcinoma PMID:25741868|PMID:28492532 11999585 TRAP1 TNF receptor associated protein 1 gene DOID:4455 hereditary renal cell carcinoma ISO RGD:1346837 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary renal cell carcinoma PMID:28492532 11999585 TRAP1 TNF receptor associated protein 1 gene DOID:630 genetic disease ISO RGD:1346837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11999585 TRAP1 TNF receptor associated protein 1 gene DOID:8398 osteoarthritis ISO RGD:1346837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11999585 TRAP1 TNF receptor associated protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1346837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11999585 TRAP1 TNF receptor associated protein 1 gene DOID:9000918 Disease Progression ISO RGD:1346837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11999605 METTL18 methyltransferase 18, RPL3 N3-histidine gene DOID:1540 parathyroid carcinoma ISO RGD:1603373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11999605 METTL18 methyltransferase 18, RPL3 N3-histidine gene DOID:630 genetic disease ISO RGD:1603373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11999605 METTL18 methyltransferase 18, RPL3 N3-histidine gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1603373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 11999605 METTL18 methyltransferase 18, RPL3 N3-histidine gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11999614 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:0050589 inflammatory bowel disease ISO RGD:736886 D RGD:9068941 20200609 RGD protein, mRNA:increased expression: colonic mucosa: inflamed tissue only PMID:16195422|REF_RGD_ID:5688766 11999614 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:14283 primary hypertrophic osteoarthropathy ISO RGD:736886 D RGD:7240710 20180130 OMIM 11999614 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:14283 primary hypertrophic osteoarthropathy ISO RGD:736886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cranioosteoarthropathy | ClinVar Annotator: match by term: Isolated congenital digital clubbing PMID:17551338|PMID:18500342|PMID:18805827|PMID:19306095|PMID:25741868|PMID:28492532|PMID:32282352|PMID:9402870 11999614 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:1520 colon carcinoma ISO RGD:736886 D RGD:9068941 20200609 RGD DNA:::adenoviral delivery of human gene in mouse model of colon cancer PMID:19494278|REF_RGD_ID:5688759 11999614 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:305 carcinoma treatment ISO RGD:620087 D RGD:9068941 20200609 RGD PMID:18058808|REF_RGD_ID:11667092 11999614 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:5394 prolactinoma ISO RGD:736886 D RGD:9068941 20200609 RGD mRNA:decreased expression:pituitary gland PMID:22580984|REF_RGD_ID:11667097 11999614 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:736886 D RGD:9068941 20200609 RGD mRNA:decreased expression:pituitary gland PMID:22580984|REF_RGD_ID:11667097 11999614 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:630 genetic disease ISO RGD:736886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11999614 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:6432 pulmonary hypertension ISO RGD:736886 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:24657469|REF_RGD_ID:11667099 11999614 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:750 peptic ulcer disease treatment ISO RGD:620087 D RGD:9068941 20200609 RGD PMID:23884819|REF_RGD_ID:11667098 11999614 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:9000622 Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 1 ISO RGD:736886 D RGD:7240710 20180130 OMIM 11999614 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:9000622 Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 1 ISO RGD:736886 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 PMID:17551338|PMID:18500342|PMID:19306095|PMID:25741868|PMID:28492532|PMID:29758562|PMID:32282352|PMID:9402870 11999614 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:9000972 Fever ISO RGD:620087 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver, lung PMID:12399253|REF_RGD_ID:2316279 11999614 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:9002304 Prostatic Neoplasms ISO RGD:736886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11999614 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11999614 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:9004484 Sepsis ISO RGD:736887 D RGD:9068941 20200609 RGD protein: decreased expression PMID:9603077|REF_RGD_ID:5688768 11999614 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:9004547 Thyroid Neoplasms ISO RGD:736886 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11352223 11999614 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:620087 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:24657469|REF_RGD_ID:11667099 11999614 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:9006195 Medullary Carcinomas ISO RGD:736886 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11352223 11999625 FUCA1 alpha-L-fucosidase 1 gene DOID:1059 intellectual disability ISO RGD:735673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10094192|PMID:25741868|PMID:28492532|PMID:33266441|PMID:7581404|PMID:8401503 11999625 FUCA1 alpha-L-fucosidase 1 gene DOID:14500 fucosidosis ISO RGD:735673 D RGD:7240710 20180130 OMIM 11999625 FUCA1 alpha-L-fucosidase 1 gene DOID:14500 fucosidosis ISO RGD:735673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fucosidosis PMID:10094192|PMID:10496076|PMID:1214294|PMID:12408193|PMID:1281988|PMID:17427030|PMID:17576681|PMID:2012122|PMID:23210910|PMID:24033266|PMID:24767253|PMID:25640679|PMID:25741868|PMID:2642067|PMID:26515723|PMID:27706744|PMID:28492532|PMID:30109123|PMID:31618753|PMID:31980526|PMID:33266441|PMID:7581404|PMID:7815431|PMID:8097260|PMID:8401503|PMID:8504303|PMID:8739734|PMID:9039984|PMID:9536098|PMID:9762612 11999625 FUCA1 alpha-L-fucosidase 1 gene DOID:630 genetic disease ISO RGD:735673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11999625 FUCA1 alpha-L-fucosidase 1 gene DOID:8947 diabetic retinopathy ISO RGD:2636 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased activity:retina PMID:10353622|REF_RGD_ID:2315932 11999625 FUCA1 alpha-L-fucosidase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:735673 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased activity;urine PMID:8343614|REF_RGD_ID:2315943 11999625 FUCA1 alpha-L-fucosidase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1553501 D RGD:9068941 20200609 RGD PMID:3924473|REF_RGD_ID:2315947 11999625 FUCA1 alpha-L-fucosidase 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:735673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:17692550|PMID:23465862|PMID:28492532|PMID:9817922 11999625 FUCA1 alpha-L-fucosidase 1 gene DOID:9006534 Nervous System Malformations ISO RGD:735673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11999625 FUCA1 alpha-L-fucosidase 1 gene DOID:9351 diabetes mellitus ISO RGD:735673 D RGD:9068941 20200609 RGD protein:decreased activity:blood platelets PMID:3609421|REF_RGD_ID:2315945 11999625 FUCA1 alpha-L-fucosidase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735673 D RGD:9068941 20200609 RGD protein:increased activity:serum PMID:16176171|REF_RGD_ID:2315931 11999625 FUCA1 alpha-L-fucosidase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735673 D RGD:9068941 20200609 RGD protein:decreased activity:plasma PMID:7304074|REF_RGD_ID:2315949 11999637 KIAA1217 KIAA1217 ortholog gene DOID:630 genetic disease ISO RGD:1352431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11999682 PVALB parvalbumin gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:735961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11999682 PVALB parvalbumin gene DOID:0090036 myoclonic dystonia 26 ISO RGD:735961 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11999682 PVALB parvalbumin gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:735961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11999682 PVALB parvalbumin gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11999682 PVALB parvalbumin gene DOID:2468 psychotic disorder ISO RGD:735961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 11999682 PVALB parvalbumin gene DOID:3312 bipolar disorder ISO RGD:735961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 11999682 PVALB parvalbumin gene DOID:4450 renal cell carcinoma ISO RGD:735961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16927643 11999682 PVALB parvalbumin gene DOID:5389 oxyphilic adenoma ISO RGD:735961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16927643 11999682 PVALB parvalbumin gene DOID:5419 schizophrenia ISO RGD:735961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 11999682 PVALB parvalbumin gene DOID:630 genetic disease ISO RGD:735961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11999691 WDR27 WD repeat domain 27 gene DOID:630 genetic disease ISO RGD:1351994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11999722 AS3MT arsenite methyltransferase gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1350697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25461954 11999722 AS3MT arsenite methyltransferase gene DOID:11054 urinary bladder cancer ISO RGD:1350697 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:22747749|PMID:29669044|PMID:29859237|PMID:32539094 11999722 AS3MT arsenite methyltransferase gene DOID:5419 schizophrenia ISO RGD:1350697 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:27158905 11999722 AS3MT arsenite methyltransferase gene DOID:630 genetic disease ISO RGD:1350697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11999722 AS3MT arsenite methyltransferase gene DOID:9003996 Birth Weight ISO RGD:1350697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26928318 11999722 AS3MT arsenite methyltransferase gene DOID:9006493 Glandular and Epithelial Neoplasms ISO RGD:1350697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21447609 11999722 AS3MT arsenite methyltransferase gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1350697 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:24361376 11999722 AS3MT arsenite methyltransferase gene DOID:9007692 Insulin Resistance ISO RGD:1350697 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35226250 11999722 AS3MT arsenite methyltransferase gene DOID:9007964 Arsenic Poisoning ISO RGD:1350697 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21447609|PMID:26366667|PMID:35226250 11999722 AS3MT arsenite methyltransferase gene DOID:9008086 Developmental Disabilities ISO RGD:1350697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28235556 11999742 FLVCR2 FLVCR heme transporter 2 gene DOID:0080600 COVID-19 ISO RGD:1352163 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11999742 FLVCR2 FLVCR heme transporter 2 gene DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome ISO RGD:1352163 D RGD:7240710 20180130 OMIM 11999742 FLVCR2 FLVCR heme transporter 2 gene DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome ISO RGD:1352163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fowler syndrome | ClinVar Annotator: match by term: HYDROCEPHALY/HYDRANENCEPHALY DUE TO CEREBRAL VASCULOPATHY | ClinVar Annotator: match by term: Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome PMID:19635601|PMID:20206334|PMID:20518025|PMID:20690116|PMID:24033266|PMID:25677735|PMID:25741868|PMID:28492532|PMID:32369449 11999742 FLVCR2 FLVCR heme transporter 2 gene DOID:1059 intellectual disability ISO RGD:1352163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11999742 FLVCR2 FLVCR heme transporter 2 gene DOID:630 genetic disease ISO RGD:1352163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:33981013 11999742 FLVCR2 FLVCR heme transporter 2 gene DOID:9008679 Posterior Column Ataxia with Retinitis Pigmentosa ISO RGD:1352163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Posterior column ataxia with retinitis pigmentosa PMID:20206334|PMID:20518025|PMID:25741868|PMID:28492532 11999759 TTC16 tetratricopeptide repeat domain 16 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1321657 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11999759 TTC16 tetratricopeptide repeat domain 16 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321657 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 11999759 TTC16 tetratricopeptide repeat domain 16 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1321657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 11999759 TTC16 tetratricopeptide repeat domain 16 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1321657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 11999759 TTC16 tetratricopeptide repeat domain 16 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1321657 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 11999759 TTC16 tetratricopeptide repeat domain 16 gene DOID:5426 primary ovarian insufficiency ISO RGD:1321657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 11999759 TTC16 tetratricopeptide repeat domain 16 gene DOID:630 genetic disease ISO RGD:1321657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11999777 LOC100991346 D-dopachrome decarboxylase gene DOID:1826 epilepsy ISO RGD:1353002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11999777 LOC100991346 D-dopachrome decarboxylase gene DOID:5419 schizophrenia ISO RGD:1353002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11999777 LOC100991346 D-dopachrome decarboxylase gene DOID:630 genetic disease ISO RGD:1353002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11999783 LOC100992274 olfactory receptor 2B2 gene DOID:630 genetic disease ISO RGD:733998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11999788 TUFM Tu translation elongation factor, mitochondrial gene DOID:0050692 Brody myopathy ISO RGD:1313566 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brody myopathy PMID:17882224|PMID:24707176|PMID:28492532 11999788 TUFM Tu translation elongation factor, mitochondrial gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1313566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:17576681|PMID:28492532|PMID:9536098 11999788 TUFM Tu translation elongation factor, mitochondrial gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1313566 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 11999788 TUFM Tu translation elongation factor, mitochondrial gene DOID:0111494 combined oxidative phosphorylation deficiency 4 ISO RGD:1313566 D RGD:7240710 20180130 OMIM 11999788 TUFM Tu translation elongation factor, mitochondrial gene DOID:0111494 combined oxidative phosphorylation deficiency 4 ISO RGD:1313566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 4 PMID:17160893|PMID:19524667|PMID:20435138|PMID:25741868|PMID:26741492|PMID:28492532 11999788 TUFM Tu translation elongation factor, mitochondrial gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1313566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 11999788 TUFM Tu translation elongation factor, mitochondrial gene DOID:5419 schizophrenia ISO RGD:1313566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11999788 TUFM Tu translation elongation factor, mitochondrial gene DOID:630 genetic disease ISO RGD:1313566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11999788 TUFM Tu translation elongation factor, mitochondrial gene DOID:9000117 Esophageal Neoplasms ISO RGD:1313566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 11999788 TUFM Tu translation elongation factor, mitochondrial gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1313566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 11999804 LOC100993694 olfactory receptor 4X2 gene DOID:1059 intellectual disability ISO RGD:1353376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11999804 LOC100993694 olfactory receptor 4X2 gene DOID:630 genetic disease ISO RGD:1353376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11999809 TMEM167A transmembrane protein 167A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11999817 ABTB2 ankyrin repeat and BTB domain containing 2 gene DOID:1059 intellectual disability ISO RGD:733617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11999817 ABTB2 ankyrin repeat and BTB domain containing 2 gene DOID:630 genetic disease ISO RGD:733617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11999838 PDSS1 decaprenyl diphosphate synthase subunit 1 gene DOID:0050730 coenzyme Q10 deficiency disease ISO RGD:1354063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CoQ10 deficiency, primary | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary PMID:25741868|PMID:28492532 11999838 PDSS1 decaprenyl diphosphate synthase subunit 1 gene DOID:0070239 primary coenzyme Q10 deficiency 2 ISO RGD:1354063 D RGD:7240710 20180130 OMIM 11999838 PDSS1 decaprenyl diphosphate synthase subunit 1 gene DOID:0070239 primary coenzyme Q10 deficiency 2 ISO RGD:1354063 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome PMID:17332895|PMID:22494076|PMID:25264263|PMID:25326637|PMID:25741868|PMID:28492532|PMID:31683770|PMID:33285023|PMID:34765390 11999838 PDSS1 decaprenyl diphosphate synthase subunit 1 gene DOID:0080600 COVID-19 ISO RGD:1354063 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11999838 PDSS1 decaprenyl diphosphate synthase subunit 1 gene DOID:5419 schizophrenia ISO RGD:1354063 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 11999838 PDSS1 decaprenyl diphosphate synthase subunit 1 gene DOID:630 genetic disease ISO RGD:1354063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11999854 CMTM4 CKLF like MARVEL transmembrane domain containing 4 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1320683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11999854 CMTM4 CKLF like MARVEL transmembrane domain containing 4 gene DOID:0110255 cataract 5 multiple types ISO RGD:1320683 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 11999854 CMTM4 CKLF like MARVEL transmembrane domain containing 4 gene DOID:630 genetic disease ISO RGD:1320683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11999884 SKOR1 SKI family transcriptional corepressor 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1605497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11999884 SKOR1 SKI family transcriptional corepressor 1 gene DOID:2717 Bloom syndrome ISO RGD:1605497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11999884 SKOR1 SKI family transcriptional corepressor 1 gene DOID:9256 colorectal cancer ISO RGD:1605497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11999909 SMIM17 small integral membrane protein 17 gene DOID:630 genetic disease ISO RGD:7205118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11999973 HDC histidine decarboxylase gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:736253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tourette syndrome PMID:20445167|PMID:24411733|PMID:25741868 11999973 HDC histidine decarboxylase gene DOID:11119 Gilles de la Tourette syndrome susceptibility ISO RGD:736253 D RGD:7240710 20230505 OMIM 11999973 HDC histidine decarboxylase gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:10706 D RGD:9068941 20200609 RGD PMID:17158962|REF_RGD_ID:5143920 11999973 HDC histidine decarboxylase gene DOID:2717 Bloom syndrome ISO RGD:736253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11999973 HDC histidine decarboxylase gene DOID:2841 asthma ISO RGD:736253 D RGD:9068941 20200609 RGD associated with Rhinitis;DNA:SNP: :p.E644D (rs2073440) (human) PMID:20608921|REF_RGD_ID:5128884 11999973 HDC histidine decarboxylase gene DOID:4483 rhinitis ISO RGD:2790 D RGD:9068941 20200609 RGD PMID:15054596|REF_RGD_ID:5143921 11999973 HDC histidine decarboxylase gene DOID:4483 rhinitis ISO RGD:736253 D RGD:9068941 20200609 RGD DNA:SNP: :p.E644D (rs2073440) (human) PMID:20608921|REF_RGD_ID:5128884 11999973 HDC histidine decarboxylase gene DOID:552 pneumonia ISO RGD:10706 D RGD:9068941 20200609 RGD PMID:14556983|REF_RGD_ID:5143922 11999973 HDC histidine decarboxylase gene DOID:630 genetic disease ISO RGD:736253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11999973 HDC histidine decarboxylase gene DOID:9005369 Hepatomegaly ISO RGD:736253 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 11999973 HDC histidine decarboxylase gene DOID:9008527 Chlamydophila Infections ISO RGD:10706 D RGD:9068941 20200609 RGD PMID:14556983|REF_RGD_ID:5143922 11999973 HDC histidine decarboxylase gene DOID:9256 colorectal cancer ISO RGD:736253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:10356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25052858|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27054081|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059|PMID:9425895 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:10356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25052858|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27054081|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059|PMID:31418850 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0050742 nicotine dependence ISO RGD:10356 D RGD:7240710 20230517 OMIM 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0050742 nicotine dependence ISO RGD:10356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nicotine addiction, protection against PMID:15154117|PMID:25741868|PMID:26467025|PMID:28492532 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:10356 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy PMID:10448807|PMID:10563623|PMID:10643924|PMID:10964949|PMID:11904236|PMID:12887446|PMID:14534157|PMID:14623738|PMID:15154117|PMID:17290276|PMID:17576681|PMID:18414213|PMID:18685138|PMID:19020039|PMID:19058950|PMID:19237585|PMID:19628475|PMID:19822871|PMID:20016990|PMID:20805988|PMID:21107856|PMID:21683344|PMID:21753767|PMID:22036597|PMID:22873564|PMID:22883468|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24385388|PMID:24811917|PMID:25741868|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26467025|PMID:26561946|PMID:26704558|PMID:26758118|PMID:27029629|PMID:27779742|PMID:28492532|PMID:29590070|PMID:31628766|PMID:7476881|PMID:7550350|PMID:7647781|PMID:8696332|PMID:8833159|PMID:9339675|PMID:9536098 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:10356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:10448807|PMID:10563623|PMID:10643924|PMID:10939581|PMID:10964949|PMID:11904236|PMID:12887446|PMID:14534157|PMID:14623738|PMID:15154117|PMID:16222669|PMID:17290276|PMID:17576681|PMID:18414213|PMID:18685138|PMID:19020039|PMID:19058950|PMID:19237585|PMID:19628475|PMID:19822871|PMID:20016990|PMID:20805988|PMID:21107856|PMID:21683344|PMID:21753767|PMID:22036597|PMID:22118295|PMID:22873564|PMID:22883468|PMID:23166088|PMID:23360469|PMID:23593457|PMID:23692823|PMID:24385388|PMID:24811917|PMID:25741868|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26467025|PMID:26561946|PMID:26704558|PMID:26758118|PMID:27779742|PMID:28492532|PMID:29454195|PMID:29590070|PMID:3089211|PMID:31628766|PMID:36292983|PMID:7476881|PMID:7550350|PMID:7647781|PMID:8696332|PMID:8833159|PMID:9339675|PMID:9536098 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0060682 autosomal dominant nocturnal frontal lobe epilepsy 1 ISO RGD:10356 D RGD:7240710 20230517 OMIM 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0060682 autosomal dominant nocturnal frontal lobe epilepsy 1 ISO RGD:10356 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 1 PMID:10448807|PMID:10563623|PMID:10643924|PMID:10939581|PMID:11904236|PMID:12887446|PMID:14623738|PMID:15154117|PMID:16222669|PMID:18685138|PMID:19020039|PMID:19058950|PMID:19237585|PMID:19628475|PMID:20016990|PMID:21107856|PMID:21683344|PMID:21753767|PMID:22036597|PMID:22118295|PMID:22873564|PMID:22883468|PMID:23593457|PMID:24385388|PMID:25741868|PMID:26467025|PMID:26561946|PMID:26704558|PMID:28492532|PMID:29590070|PMID:7476881|PMID:7550350|PMID:7647781|PMID:8696332|PMID:8833159|PMID:9339675 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:10356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:23453664|PMID:23959892|PMID:25607374|PMID:28492532 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:10356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532|PMID:30866059 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:10356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:10448807|PMID:10563623|PMID:10643924|PMID:10939581|PMID:10964949|PMID:11904236|PMID:12887446|PMID:14534157|PMID:14623738|PMID:15154117|PMID:16222669|PMID:17290276|PMID:17576681|PMID:18414213|PMID:18685138|PMID:19020039|PMID:19058950|PMID:19237585|PMID:19628475|PMID:19822871|PMID:20016990|PMID:20805988|PMID:21107856|PMID:21683344|PMID:21753767|PMID:22036597|PMID:22118295|PMID:22873564|PMID:22883468|PMID:23166088|PMID:23360469|PMID:23593457|PMID:23692823|PMID:24385388|PMID:24811917|PMID:25741868|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26467025|PMID:26561946|PMID:26704558|PMID:26758118|PMID:27779742|PMID:28492532|PMID:29454195|PMID:29590070|PMID:3089211|PMID:31628766|PMID:36292983|PMID:7476881|PMID:7550350|PMID:7647781|PMID:8696332|PMID:8833159|PMID:9339675|PMID:9536098 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0081325 developmental and epileptic encephalopathy 94 ISO RGD:10356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 94 PMID:25741868 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:10356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25052858|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27054081|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059|PMID:31418850 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:1059 intellectual disability ISO RGD:10356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:10652 Alzheimer's disease ISO RGD:10356 D RGD:9068941 20200609 RGD PMID:15465084|REF_RGD_ID:1358509 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:10356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21748252 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:11832 visual epilepsy ISO RGD:10356 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:10563623|PMID:10643924|PMID:11904236|PMID:12887446|PMID:14623738|PMID:15154117|PMID:18414213|PMID:19020039|PMID:19058950|PMID:19628475|PMID:21107856|PMID:21683344|PMID:21753767|PMID:22036597|PMID:22873564|PMID:22883468|PMID:24385388|PMID:25741868|PMID:26467025|PMID:26561946|PMID:28492532 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:12217 Lewy body dementia ISO RGD:10356 D RGD:9068941 20200609 RGD PMID:15465084|REF_RGD_ID:1358509 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:12849 autistic disorder ISO RGD:10356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15046869 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:10356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:1826 epilepsy ISO RGD:10356 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:10563623|PMID:10643924|PMID:11904236|PMID:12887446|PMID:14623738|PMID:15154117|PMID:18414213|PMID:19020039|PMID:19058950|PMID:19628475|PMID:21107856|PMID:21683344|PMID:21753767|PMID:22036597|PMID:22873564|PMID:22883468|PMID:24385388|PMID:25741868|PMID:26467025|PMID:26561946|PMID:28492532 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:1826 epilepsy ISO RGD:10356 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:10563623|PMID:10643924|PMID:11904236|PMID:12887446|PMID:14623738|PMID:15154117|PMID:18414213|PMID:19020039|PMID:19058950|PMID:19628475|PMID:21107856|PMID:21683344|PMID:21753767|PMID:22036597|PMID:22873564|PMID:22883468|PMID:23593457|PMID:24385388|PMID:25741868|PMID:26467025|PMID:26561946|PMID:28492532 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:1826 epilepsy ISO RGD:10356 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:26467025|PMID:28492532 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:332 amyotrophic lateral sclerosis ISO RGD:10356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532|PMID:29454195|PMID:31628766 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:3331 frontal lobe epilepsy ISO RGD:10356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12823585|PMID:14996991|PMID:17881519 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:535 sleep disorder ISO RGD:10356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16339034 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:543 dystonia ISO RGD:10356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19404753 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:6000 congestive heart failure ISO RGD:2346 D RGD:9068941 20200609 RGD associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum PMID:16497176|REF_RGD_ID:1642301 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:630 genetic disease ISO RGD:10356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10563623|PMID:10643924|PMID:10939581|PMID:11904236|PMID:12887446|PMID:14623738|PMID:15154117|PMID:18414213|PMID:19020039|PMID:19058950|PMID:19237585|PMID:19628475|PMID:20016990|PMID:21107856|PMID:21683344|PMID:21753767|PMID:22036597|PMID:22118295|PMID:22873564|PMID:22883468|PMID:23593457|PMID:24385388|PMID:25282705|PMID:25741868|PMID:26467025|PMID:26561946|PMID:28492532|PMID:31628766|PMID:9339675 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:863 nervous system disease ISO RGD:10356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20805988 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:9001310 Tobacco Use Disorder ISO RGD:10356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tobacco use disorder PMID:19628475|PMID:21107856|PMID:21683344|PMID:22873564|PMID:24385388|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31628766 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:9005372 Inflammation ISO RGD:10356 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20943775 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:9008086 Developmental Disabilities ISO RGD:10356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20805988 11999990 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:9255 frontotemporal dementia ISO RGD:10356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:28492532 12000001 DALRD3 DALR anticodon binding domain containing 3 gene DOID:0112220 developmental and epileptic encephalopathy 86 ISO RGD:1352602 D RGD:7240710 20200701 OMIM 12000001 DALRD3 DALR anticodon binding domain containing 3 gene DOID:0112220 developmental and epileptic encephalopathy 86 ISO RGD:1352602 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 86 PMID:25741868|PMID:32427860 12000001 DALRD3 DALR anticodon binding domain containing 3 gene DOID:630 genetic disease ISO RGD:1352602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000001 DALRD3 DALR anticodon binding domain containing 3 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1352602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12000001 DALRD3 DALR anticodon binding domain containing 3 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1352602 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12000022 ABHD11 abhydrolase domain containing 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1606493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 12000022 ABHD11 abhydrolase domain containing 11 gene DOID:10923 sickle cell anemia ISO RGD:1606493 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 12000022 ABHD11 abhydrolase domain containing 11 gene DOID:12849 autistic disorder ISO RGD:1606493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12000022 ABHD11 abhydrolase domain containing 11 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1606493 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 12000022 ABHD11 abhydrolase domain containing 11 gene DOID:1929 supravalvular aortic stenosis ISO RGD:1606493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis PMID:10627943|PMID:11175284|PMID:25205790|PMID:28277377|PMID:28492532|PMID:7557968|PMID:7611295|PMID:7726172|PMID:8968740 12000022 ABHD11 abhydrolase domain containing 11 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12000022 ABHD11 abhydrolase domain containing 11 gene DOID:5419 schizophrenia ISO RGD:1606493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12000022 ABHD11 abhydrolase domain containing 11 gene DOID:630 genetic disease ISO RGD:1606493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000022 ABHD11 abhydrolase domain containing 11 gene DOID:8445 intestinal volvulus ISO RGD:1606493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12000022 ABHD11 abhydrolase domain containing 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12000022 ABHD11 abhydrolase domain containing 11 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1606493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:0050700 cardiomyopathy ISO RGD:734022 D RGD:9068941 20210122 RGD mRNA, protein:alternative form, increased expression:heart PMID:23462508|REF_RGD_ID:40924663 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:0050933 ovarian serous carcinoma disease_progression ISO RGD:734022 D RGD:9068941 20210115 RGD PMID:25455994|REF_RGD_ID:40907066 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:0060318 acute promyelocytic leukemia disease_progression ISO RGD:734022 D RGD:9068941 20210115 RGD PMID:24296270|REF_RGD_ID:40907062 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:1059 intellectual disability ISO RGD:734022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:10652 Alzheimer's disease ISO RGD:67378 D RGD:9068941 20210122 RGD PMID:31028587|REF_RGD_ID:40925918 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:11260 rabies ISO RGD:736988 D RGD:9068941 20210115 RGD PMID:9696812|REF_RGD_ID:40907065 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:1459 hypothyroidism ISO RGD:67378 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:20412599|REF_RGD_ID:2326028 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:1596 depressive disorder treatment ISO RGD:67378 D RGD:9068941 20210122 RGD PMID:29217494|REF_RGD_ID:13703051 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:734022 D RGD:9068941 20200609 RGD PMID:11249065|REF_RGD_ID:2326074 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:1793 pancreatic cancer severity ISO RGD:734022 D RGD:9068941 20200609 RGD PMID:10374842|REF_RGD_ID:2326075 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:3073 brain glioblastoma multiforme disease_progression ISO RGD:734022 D RGD:9068941 20210122 RGD PMID:20219118|REF_RGD_ID:40924672 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:3312 bipolar disorder ISO RGD:734022 D RGD:9068941 20200609 RGD DNA:snps:introns:IVS6+32T>C, IVS7+11G>C, IVS12+21C>A (human) PMID:15050861|REF_RGD_ID:1358750 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:67378 D RGD:9068941 20210122 RGD PMID:29497380|REF_RGD_ID:40925919 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:734022 D RGD:9068941 20210115 RGD PMID:32962079|REF_RGD_ID:40924633 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:3892 insulinoma ISO RGD:734022 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:8972754|REF_RGD_ID:2326080 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:4947 cholangiocarcinoma ISO RGD:734022 D RGD:9068941 20200609 RGD associated with hepatitis PMID:12031086|REF_RGD_ID:2326079 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:5419 schizophrenia ISO RGD:734022 D RGD:9068941 20210122 RGD PMID:30664618|REF_RGD_ID:40925920 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:734022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:5844 myocardial infarction ISO RGD:67378 D RGD:9068941 20210122 RGD protein:alternative form, increased expression:myocardium PMID:23462508|REF_RGD_ID:40924663 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:5844 myocardial infarction ISO RGD:736988 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart PMID:19853610|REF_RGD_ID:2325979 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:6000 congestive heart failure ISO RGD:67378 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart PMID:19853610|REF_RGD_ID:2325979 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:734022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:657 adenoma ISO RGD:734022 D RGD:9068941 20200609 RGD protein:increased expression:gallbladder PMID:15100237|REF_RGD_ID:2326070 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:9000011 Gallbladder Neoplasms disease_progression ISO RGD:734022 D RGD:9068941 20200609 RGD protein:increased expression:epithelial cell PMID:15100237|REF_RGD_ID:2326070 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:734022 D RGD:9068941 20210115 RGD PMID:28529158|REF_RGD_ID:40924632 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:736988 D RGD:9068941 20200609 RGD PMID:10086383|REF_RGD_ID:2326067 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:67378 D RGD:9068941 20210122 RGD protein:decreased expression:hippocampus PMID:17064783|REF_RGD_ID:40924670 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:9002936 Bile Duct Neoplasms ISO RGD:734022 D RGD:9068941 20200609 RGD PMID:9851639|REF_RGD_ID:2326076 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:9002936 Bile Duct Neoplasms disease_progression ISO RGD:734022 D RGD:9068941 20200609 RGD PMID:8501910|REF_RGD_ID:2326077 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:734022 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:734022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:9004332 Osteoarthritis, Experimental ISO RGD:67378 D RGD:9068941 20210122 RGD protein:decreased expression:skeletal joint PMID:31742919|REF_RGD_ID:40924673 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:734022 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19700239 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:9008091 Optic Nerve Injuries ISO RGD:736988 D RGD:9068941 20230223 RGD PMID:18757519|REF_RGD_ID:2326023 12000035 NCAM1 neural cell adhesion molecule 1 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:734022 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic islet PMID:15714132|REF_RGD_ID:2326066 12000092 YPEL5 yippee like 5 gene DOID:630 genetic disease ISO RGD:1320113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000113 USP8 ubiquitin specific peptidase 8 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1312730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12000113 USP8 ubiquitin specific peptidase 8 gene DOID:2717 Bloom syndrome ISO RGD:1312730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12000113 USP8 ubiquitin specific peptidase 8 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1312730 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35022897 12000113 USP8 ubiquitin specific peptidase 8 gene DOID:3946 pituitary-dependent Cushing's disease ISO RGD:1312730 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pituitary dependent hypercortisolism PMID:25675982|PMID:25741868|PMID:25942478|PMID:28492532 12000113 USP8 ubiquitin specific peptidase 8 gene DOID:7004 ACTH-secreting pituitary adenoma ISO RGD:1312730 D RGD:7240710 20190315 OMIM 12000113 USP8 ubiquitin specific peptidase 8 gene DOID:9256 colorectal cancer ISO RGD:1312730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12000138 GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 gene DOID:10652 Alzheimer's disease ISO RGD:731814 D RGD:9068941 20200609 RGD PMID:15571982|REF_RGD_ID:10401946 12000138 GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 gene DOID:630 genetic disease ISO RGD:731814 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000138 GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 gene DOID:9000794 Sporadic Creutzfeldt-Jakob Disease ISO RGD:731814 D RGD:9068941 20200609 RGD PMID:15571982|REF_RGD_ID:10401946 12000159 SYN2 synapsin II gene DOID:0060041 autism spectrum disorder ISO RGD:736268 D RGD:9068941 20220825 MouseDO 12000159 SYN2 synapsin II gene DOID:0080600 COVID-19 ISO RGD:736267 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12000159 SYN2 synapsin II gene DOID:1826 epilepsy ISO RGD:736268 D RGD:9068941 20220825 MouseDO 12000159 SYN2 synapsin II gene DOID:5419 schizophrenia ISO RGD:736267 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:25741868 12000159 SYN2 synapsin II gene DOID:5419 schizophrenia susceptibility ISO RGD:736267 D RGD:7240710 20230505 OMIM 12000159 SYN2 synapsin II gene DOID:630 genetic disease ISO RGD:736267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000159 SYN2 synapsin II gene DOID:9002211 Hyperalgesia ISO RGD:736267 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18701217 12000179 SYCP3 synaptonemal complex protein 3 gene DOID:0070176 spermatogenic failure 4 ISO RGD:733070 D RGD:7240710 20180130 OMIM 12000179 SYCP3 synaptonemal complex protein 3 gene DOID:0070176 spermatogenic failure 4 ISO RGD:733070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 4 PMID:14643120|PMID:19110213|PMID:28492532|PMID:28801929|PMID:29713536 12000179 SYCP3 synaptonemal complex protein 3 gene DOID:0111910 spermatogenic failure ISO RGD:733070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic Failure 12000179 SYCP3 synaptonemal complex protein 3 gene DOID:12336 male infertility ISO RGD:733070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 12000179 SYCP3 synaptonemal complex protein 3 gene DOID:14227 azoospermia ISO RGD:11368 D RGD:9068941 20221103 MouseDO OMIM:102530 | OMIM:108420 | OMIM:243060 | OMIM:258150 | OMIM:270960 | OMIM:309120 | OMIM:415000 | OMIM:606766 | OMIM:612997 | OMIM:613957 | OMIM:613958 | OMIM:614822 | OMIM:615081 | OMIM:615413 | OMIM:615841 | OMIM:615842 12000179 SYCP3 synaptonemal complex protein 3 gene DOID:14227 azoospermia ISO RGD:733070 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:14643120 12000179 SYCP3 synaptonemal complex protein 3 gene DOID:630 genetic disease ISO RGD:733070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000179 SYCP3 synaptonemal complex protein 3 gene DOID:9007479 Habitual Abortions ISO RGD:733070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19110213 12000199 ATG16L2 autophagy related 16 like 2 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1606757 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12000199 ATG16L2 autophagy related 16 like 2 gene DOID:1059 intellectual disability ISO RGD:1606757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12000199 ATG16L2 autophagy related 16 like 2 gene DOID:630 genetic disease ISO RGD:1606757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000242 GALNS galactosamine (N-acetyl)-6-sulfatase gene DOID:0060041 autism spectrum disorder ISO RGD:1343157 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12000242 GALNS galactosamine (N-acetyl)-6-sulfatase gene DOID:0060350 adenine phosphoribosyltransferase deficiency ISO RGD:1343157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency PMID:25741868|PMID:28492532 12000242 GALNS galactosamine (N-acetyl)-6-sulfatase gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1343157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 12000242 GALNS galactosamine (N-acetyl)-6-sulfatase gene DOID:0080006 bone development disease ISO RGD:1343157 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:1522213|PMID:20574428|PMID:22521955|PMID:23137060|PMID:25252036|PMID:25545067|PMID:25741868|PMID:28492532|PMID:30305043|PMID:31200731|PMID:31991612|PMID:32024277|PMID:34387910|PMID:9298823 12000242 GALNS galactosamine (N-acetyl)-6-sulfatase gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1343157 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12000242 GALNS galactosamine (N-acetyl)-6-sulfatase gene DOID:0111391 mucopolysaccharidosis IVA ISO RGD:1343157 D RGD:7240710 20191030 OMIM 12000242 GALNS galactosamine (N-acetyl)-6-sulfatase gene DOID:0111391 mucopolysaccharidosis IVA ISO RGD:1343157 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A PMID:10479485|PMID:10699374|PMID:10814710|PMID:11524742|PMID:12442278|PMID:12721840|PMID:12955720|PMID:1522213|PMID:15235041|PMID:15241807|PMID:15309681|PMID:15689448|PMID:16199547|PMID:16287098|PMID:16378744|PMID:16837223|PMID:16959974|PMID:17576681|PMID:17876718|PMID:18484607|PMID:18710657|PMID:18792995|PMID:19881469|PMID:20301515|PMID:20301788|PMID:20574428|PMID:21506915|PMID:21644215|PMID:21896407|PMID:21943391|PMID:22078177|PMID:22178352|PMID:22327063|PMID:22487817|PMID:22521955|PMID:22940367|PMID:22976768|PMID:23137060|PMID:23227063|PMID:23313879|PMID:23401410|PMID:23844448|PMID:23876334|PMID:24033266|PMID:24035930|PMID:24120057|PMID:24389823|PMID:24411403|PMID:24726177|PMID:24767253|PMID:24773188|PMID:24875751|PMID:25137622|PMID:25252036|PMID:25287660|PMID:25364648|PMID:25433535|PMID:25501214|PMID:25545067|PMID:25640679|PMID:25741868|PMID:26112015|PMID:26147980|PMID:26276046|PMID:26502894|PMID:27243974|PMID:27317439|PMID:27331011|PMID:27825773|PMID:28397226|PMID:28492532|PMID:28844463|PMID:29275451|PMID:29426755|PMID:29620724|PMID:29731656|PMID:29779902|PMID:29869463|PMID:30023300|PMID:30091983|PMID:30094185|PMID:30138938|PMID:30305043|PMID:30458289|PMID:30487145|PMID:30797135|PMID:30809705|PMID:30927141|PMID:30980944|PMID:31200731|PMID:3129221|PMID:31732130|PMID:31991612|PMID:32014045|PMID:32024277|PMID:32102177|PMID:32183856|PMID:32216080|PMID:32860008|PMID:32905071|PMID:32993725|PMID:33256811|PMID:33304816|PMID:33726816|PMID:33752727|PMID:34008892|PMID:34387910|PMID:34573925|PMID:34813777|PMID:34828358|PMID:35094026|PMID:35782601|PMID:36077388|PMID:7581409|PMID:7633425|PMID:7668283|PMID:7795586|PMID:7987329|PMID:8651279|PMID:8826435|PMID:8829629|PMID:8844220|PMID:9290256|PMID:9298823|PMID:9375852|PMID:9385378|PMID:9401012|PMID:9521421|PMID:9536098|PMID:9660054 12000242 GALNS galactosamine (N-acetyl)-6-sulfatase gene DOID:12804 mucopolysaccharidosis IV ISO RGD:1343157 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Galactosamine-6-sulfatase deficiency | ClinVar Annotator: match by term: Morquio syndrome PMID:10814710|PMID:11524742|PMID:12442278|PMID:12721840|PMID:15235041|PMID:15241807|PMID:15309681|PMID:16287098|PMID:16837223|PMID:16959974|PMID:17876718|PMID:18710657|PMID:20574428|PMID:21506915|PMID:22521955|PMID:22940367|PMID:22976768|PMID:23227063|PMID:23401410|PMID:23844448|PMID:23876334|PMID:24033266|PMID:24035930|PMID:24120057|PMID:24389823|PMID:24726177|PMID:24773188|PMID:25137622|PMID:25252036|PMID:25287660|PMID:25433535|PMID:25501214|PMID:25545067|PMID:25741868|PMID:26112015|PMID:26147980|PMID:26502894|PMID:27317439|PMID:28492532|PMID:28844463|PMID:29275451|PMID:29731656|PMID:29779902|PMID:29869463|PMID:30023300|PMID:30091983|PMID:30094185|PMID:30458289|PMID:30797135|PMID:30809705|PMID:30927141|PMID:30980944|PMID:31200731|PMID:31732130|PMID:32014045|PMID:32183856|PMID:32860008|PMID:32905071|PMID:32993725|PMID:33726816|PMID:34387910|PMID:34813777|PMID:34828358|PMID:35094026|PMID:35782601|PMID:36077388|PMID:7633425|PMID:7668283|PMID:7795586|PMID:8829629|PMID:9298823|PMID:9375852|PMID:9385378|PMID:9401012|PMID:9521421 12000242 GALNS galactosamine (N-acetyl)-6-sulfatase gene DOID:14780 KBG syndrome ISO RGD:1343157 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31690835 12000242 GALNS galactosamine (N-acetyl)-6-sulfatase gene DOID:630 genetic disease ISO RGD:1343157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11524742|PMID:15235041|PMID:16287098|PMID:16837223|PMID:20574428|PMID:21506915|PMID:22940367|PMID:22976768|PMID:23876334|PMID:24035930|PMID:24120057|PMID:24726177|PMID:25137622|PMID:25252036|PMID:25287660|PMID:25545067|PMID:25741868|PMID:27331011|PMID:28492532|PMID:29731656|PMID:30458289|PMID:31200731|PMID:32014045|PMID:34387910|PMID:7633425|PMID:7795586|PMID:9298823|PMID:9375852 12000242 GALNS galactosamine (N-acetyl)-6-sulfatase gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1343157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12000242 GALNS galactosamine (N-acetyl)-6-sulfatase gene DOID:9005372 Inflammation ISO RGD:1343157 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7849337 12000263 BRSK1 BR serine/threonine kinase 1 gene DOID:630 genetic disease ISO RGD:1353238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000287 HCRTR2 hypocretin receptor 2 gene DOID:4195 hyperglycemia treatment ISO RGD:2788 D RGD:9068941 20200609 RGD associated with Obesity PMID:12217430|REF_RGD_ID:1358430 12000287 HCRTR2 hypocretin receptor 2 gene DOID:630 genetic disease ISO RGD:1351591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000287 HCRTR2 hypocretin receptor 2 gene DOID:8986 narcolepsy ISO RGD:12143991 D RGD:9068941 20210924 OMIA Narcolepsy PMID:10458611|PMID:10471483|PMID:10552257|PMID:11282968|PMID:11442359|PMID:11682143|PMID:12044453|PMID:12846289|PMID:1393561|PMID:1455131|PMID:14746368|PMID:15308685|PMID:1645207|PMID:1673032|PMID:1687464|PMID:1689603|PMID:17873267|PMID:1831837|PMID:18714784|PMID:19689311|PMID:1972749|PMID:23582416|PMID:2523880|PMID:2557958|PMID:2563354|PMID:3010425|PMID:33313880|PMID:33556640|PMID:3704431|PMID:3704433|PMID:3704445|PMID:3775753|PMID:3828787|PMID:4472992|PMID:4736237|PMID:562026|PMID:574310|PMID:6188216|PMID:6539848|PMID:6996290|PMID:7199479|PMID:72649|PMID:7579139|PMID:7623112|PMID:7701203|PMID:7701206|PMID:7991953|PMID:8008205|PMID:8008206|PMID:8095066|PMID:8095546|PMID:8275992|PMID:8746387|PMID:8764647|PMID:8891251|PMID:8905685|PMID:9050784|PMID:9185233|PMID:9236248|PMID:9377531|PMID:945254|PMID:9462456|PMID:9481825|PMID:9870955|PMID:9987919 12000287 HCRTR2 hypocretin receptor 2 gene DOID:8986 narcolepsy ISO RGD:1351591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17521418 12000287 HCRTR2 hypocretin receptor 2 gene DOID:8986 narcolepsy ISO RGD:1553616 D RGD:9068941 20220825 MouseDO OMIM:161400 | OMIM:605841 | OMIM:609039 | OMIM:612417 | OMIM:612851 | OMIM:614223 | OMIM:614250 12000305 CCNJL cyclin J like gene DOID:630 genetic disease ISO RGD:1606241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000321 MAST4 microtubule associated serine/threonine kinase family member 4 gene DOID:0050562 West syndrome ISO RGD:1601915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile spasms 12000321 MAST4 microtubule associated serine/threonine kinase family member 4 gene DOID:630 genetic disease ISO RGD:1601915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000321 MAST4 microtubule associated serine/threonine kinase family member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12000382 ZNF658 zinc finger protein 658 gene DOID:37 skin disease ISO RGD:1345425 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28720099 12000382 ZNF658 zinc finger protein 658 gene DOID:630 genetic disease ISO RGD:1345425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000395 GPR89A G protein-coupled receptor 89A gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1642209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 12000395 GPR89A G protein-coupled receptor 89A gene DOID:1540 parathyroid carcinoma ISO RGD:1642209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12000395 GPR89A G protein-coupled receptor 89A gene DOID:5419 schizophrenia ISO RGD:1642209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12000395 GPR89A G protein-coupled receptor 89A gene DOID:630 genetic disease ISO RGD:1642209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000395 GPR89A G protein-coupled receptor 89A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1642209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12000416 ERC2 ELKS/RAB6-interacting/CAST family member 2 gene DOID:630 genetic disease ISO RGD:1607056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000436 C1QL3 complement C1q like 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1322092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12000436 C1QL3 complement C1q like 3 gene DOID:630 genetic disease ISO RGD:1322092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000445 C19H19orf84 chromosome 19 C19orf84 homolog gene DOID:0080600 COVID-19 ISO RGD:7778770 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12000445 C19H19orf84 chromosome 19 C19orf84 homolog gene DOID:630 genetic disease ISO RGD:7778770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:10283 prostate cancer ameliorates ISO RGD:737223 D RGD:9068941 20220429 RGD human cells in mouse model PMID:30537000|REF_RGD_ID:152025215 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:11664 nephrosclerosis ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:11713 diabetic angiopathy susceptibility ISO RGD:737223 D RGD:9068941 20200609 RGD associated with Diabetic Foot;DNA:polymorphism:3' utr (human) PMID:16723689|REF_RGD_ID:2306558 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:12932 endomyocardial fibrosis ISO RGD:737223 D RGD:9068941 20220310 CTD CTD Direct Evidence: therapeutic PMID:34310909 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:1790 malignant mesothelioma ISO RGD:737223 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:1824 status epilepticus ISO RGD:3651 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19054393|REF_RGD_ID:2306568 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:224 transient cerebral ischemia ISO RGD:3651 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus: PMID:24924806|REF_RGD_ID:11352662 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:2316 brain ischemia ISO RGD:3651 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:18206136|REF_RGD_ID:2306577 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:2596 larynx cancer exacerbates ISO RGD:737223 D RGD:9068941 20220512 RGD protein:increased expression: mucosa of larynx (human) PMID:23259294|REF_RGD_ID:152177474 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:2723 dermatitis ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27206134 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:326 ischemia ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18227068 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:3393 coronary artery disease ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:3459 breast carcinoma susceptibility ISO RGD:737223 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:15978329|REF_RGD_ID:2317609 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:3892 insulinoma ISO RGD:737223 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19013212|REF_RGD_ID:2317608 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:737223 D RGD:9068941 20230128 RGD mRNA:decreased expression:kidney: PMID:29218250|REF_RGD_ID:155804290 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:3651 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:17557270|REF_RGD_ID:2306579 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:737223 D RGD:7240710 20230505 OMIM 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:737223 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:25741868|PMID:9430590 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:5844 myocardial infarction ISO RGD:3651 D RGD:9068941 20200609 RGD PMID:19187644|REF_RGD_ID:2306567 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:5844 myocardial infarction ISO RGD:3651 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:11820456|REF_RGD_ID:632503 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:630 genetic disease ISO RGD:737223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:684 hepatocellular carcinoma ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144|PMID:28284560 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:824 periodontitis ISO RGD:737223 D RGD:9068941 20200609 RGD PMID:18454663|REF_RGD_ID:2306575 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:8947 diabetic retinopathy severity ISO RGD:737223 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor PMID:15630447|REF_RGD_ID:2306559 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:737223 D RGD:9068941 20220422 RGD associated with stomach cancer;mRNA:increased expression:stomach (human) PMID:21633638|REF_RGD_ID:152023624 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9000641 Pain ISO RGD:3651 D RGD:9068941 20200609 RGD PMID:11438578|REF_RGD_ID:2306307 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9000656 Penetrating Wounds ISO RGD:11280 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:17950070|REF_RGD_ID:2306556 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21312072|PMID:23743303 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737223 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:12761880|REF_RGD_ID:2317610 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:737223 D RGD:9068941 20200609 RGD associated with Pancreatic Carcinoma PMID:26330165|REF_RGD_ID:10398726 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9001004 Chronic Periodontitis ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20731768 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9001004 Chronic Periodontitis ISO RGD:737223 D RGD:9068941 20200609 RGD mRNA:increased expression:gingival tissues PMID:21382035|REF_RGD_ID:6480655 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9001600 Wounds and Injuries ISO RGD:3651 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ligament PMID:19327017|REF_RGD_ID:2306564 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:737223 D RGD:9068941 20220310 CTD CTD Direct Evidence: therapeutic PMID:34310909 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9002138 Spinal Cord Reperfusion Injury ISO RGD:3651 D RGD:9068941 20200609 RGD PMID:27760212|REF_RGD_ID:12910551 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9002211 Hyperalgesia ISO RGD:3651 D RGD:9068941 20200609 RGD PMID:28638088|REF_RGD_ID:13838657 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17785557 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9002801 Recurrence ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22607768 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9004009 Reperfusion Injury ISO RGD:3651 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:18709383|REF_RGD_ID:2306570 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19700239|PMID:25231984|PMID:25753200 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9004994 Embryo Loss ISO RGD:11280 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:18384776|REF_RGD_ID:2306554 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:11280 D RGD:9068941 20200609 RGD PMID:17878289|REF_RGD_ID:2306557 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3651 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:18201529|REF_RGD_ID:2306555 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9006618 Liver Metastasis ameliorates ISO RGD:737223 D RGD:9068941 20220421 RGD associated with colorectal cancer; human cells in mouse model PMID:30789971|REF_RGD_ID:151893289 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9008763 Femoral Fractures treatment ISO RGD:3651 D RGD:9068941 20200609 RGD PMID:25181476|REF_RGD_ID:11352664 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9008939 Breast Neoplasms ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18521742 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737223 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18451752|REF_RGD_ID:2306553 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9744 type 1 diabetes mellitus ISO RGD:11280 D RGD:9068941 20200609 RGD PMID:12383202|REF_RGD_ID:2306562 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:737223 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr (human) PMID:14679085|REF_RGD_ID:2306561 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:11280 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow PMID:18793419|REF_RGD_ID:2301942 12000451 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:737223 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr (human) PMID:11334429|PMID:14522095|REF_RGD_ID:2306560|REF_RGD_ID:2306563 12000477 ABHD12B abhydrolase domain containing 12B gene DOID:630 genetic disease ISO RGD:1349841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000493 DUOXA2 dual oxidase maturation factor 2 gene DOID:0050328 congenital hypothyroidism ISO RGD:1603235 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:25741868|PMID:28492532 12000493 DUOXA2 dual oxidase maturation factor 2 gene DOID:0050712 AGAT deficiency ISO RGD:1603235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 12000493 DUOXA2 dual oxidase maturation factor 2 gene DOID:0112184 thyroid dyshormonogenesis 5 ISO RGD:1603235 D RGD:7240710 20180130 OMIM 12000493 DUOXA2 dual oxidase maturation factor 2 gene DOID:0112184 thyroid dyshormonogenesis 5 ISO RGD:1603235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thyroid dyshormonogenesis 5 PMID:18042646|PMID:23292166|PMID:25675383|PMID:25741868|PMID:28492532|PMID:30110704|PMID:31044655|PMID:32252219|PMID:32860008 12000493 DUOXA2 dual oxidase maturation factor 2 gene DOID:2717 Bloom syndrome ISO RGD:1603235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12000493 DUOXA2 dual oxidase maturation factor 2 gene DOID:630 genetic disease ISO RGD:1603235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18042646|PMID:23292166|PMID:25675383|PMID:25741868|PMID:28492532|PMID:30110704|PMID:32252219 12000493 DUOXA2 dual oxidase maturation factor 2 gene DOID:9256 colorectal cancer ISO RGD:1603235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12000503 PLA2G2A phospholipase A2 group IIA gene DOID:0060180 colitis ISO RGD:731017 D RGD:9068941 20200609 RGD PMID:17982090|REF_RGD_ID:6482729 12000503 PLA2G2A phospholipase A2 group IIA gene DOID:0060369 Parkinson's disease 6 ISO RGD:731016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12000503 PLA2G2A phospholipase A2 group IIA gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:731016 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12000503 PLA2G2A phospholipase A2 group IIA gene DOID:0080543 hyperprolinemia type 2 ISO RGD:731016 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12000503 PLA2G2A phospholipase A2 group IIA gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:731016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12000503 PLA2G2A phospholipase A2 group IIA gene DOID:11151 cholecystolithiasis ISO RGD:731016 D RGD:9068941 20200609 RGD PMID:9695991|REF_RGD_ID:6482724 12000503 PLA2G2A phospholipase A2 group IIA gene DOID:11204 allergic conjunctivitis ISO RGD:731016 D RGD:9068941 20200609 RGD protein:increased expression:body fluid or substance PMID:21042565|REF_RGD_ID:6482725 12000503 PLA2G2A phospholipase A2 group IIA gene DOID:11394 adult respiratory distress syndrome ISO RGD:731016 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:22173044|REF_RGD_ID:6482717 12000503 PLA2G2A phospholipase A2 group IIA gene DOID:1596 depressive disorder ISO RGD:731016 D RGD:9068941 20200609 RGD mRNA:increased expression:blood PMID:22331023|REF_RGD_ID:6482716 12000503 PLA2G2A phospholipase A2 group IIA gene DOID:1936 atherosclerosis ISO RGD:731016 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19237014 12000503 PLA2G2A phospholipase A2 group IIA gene DOID:289 endometriosis ISO RGD:731016 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25446850 12000503 PLA2G2A phospholipase A2 group IIA gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:731016 D RGD:9068941 20200609 RGD PMID:18096355|REF_RGD_ID:6482728 12000503 PLA2G2A phospholipase A2 group IIA gene DOID:630 genetic disease ISO RGD:731016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000503 PLA2G2A phospholipase A2 group IIA gene DOID:8534 gastroesophageal reflux disease ISO RGD:731016 D RGD:9068941 20200609 RGD PMID:19672667|REF_RGD_ID:6482726 12000503 PLA2G2A phospholipase A2 group IIA gene DOID:9000039 Spinal Cord Injuries ISO RGD:620857 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:19306380|REF_RGD_ID:6482721 12000503 PLA2G2A phospholipase A2 group IIA gene DOID:9000039 Spinal Cord Injuries ISO RGD:731017 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:21868473|REF_RGD_ID:6482718 12000503 PLA2G2A phospholipase A2 group IIA gene DOID:9001934 Neonatal Sepsis susceptibility ISO RGD:731016 D RGD:9068941 20200609 RGD DNA:SNP:enhancer: (rs1891320) (human) PMID:20463618|REF_RGD_ID:6482720 12000503 PLA2G2A phospholipase A2 group IIA gene DOID:9002245 Intestinal Neoplasms ISO RGD:731017 D RGD:9068941 20200609 RGD PMID:19037975|REF_RGD_ID:6482727 12000503 PLA2G2A phospholipase A2 group IIA gene DOID:9004009 Reperfusion Injury ISO RGD:731016 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12967936 12000503 PLA2G2A phospholipase A2 group IIA gene DOID:9004610 Acute Lung Injury severity ISO RGD:620857 D RGD:9068941 20200609 RGD PMID:19235614|REF_RGD_ID:6482722 12000503 PLA2G2A phospholipase A2 group IIA gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:731016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12000503 PLA2G2A phospholipase A2 group IIA gene DOID:9007102 Myocardial Ischemia ISO RGD:731016 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12000503 PLA2G2A phospholipase A2 group IIA gene DOID:9008443 Colorectal Neoplasms ISO RGD:731016 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 12000503 PLA2G2A phospholipase A2 group IIA gene DOID:9008443 Colorectal Neoplasms susceptibility ISO RGD:731017 D RGD:9068941 20200609 RGD DNA:frameshift mutation:cds: (mouse) PMID:7781071|REF_RGD_ID:619597 12000503 PLA2G2A phospholipase A2 group IIA gene DOID:9008622 Adrenal Insufficiency ISO RGD:620857 D RGD:9068941 20200609 RGD associated with Pancreatitis, Acute Necrotizing;protein:increased expression:adrenal gland PMID:21161352|REF_RGD_ID:6482719 12000503 PLA2G2A phospholipase A2 group IIA gene DOID:9256 colorectal cancer susceptibility ISO RGD:731016 D RGD:7240710 20230505 OMIM 12000512 TAAR8 trace amine associated receptor 8 gene DOID:630 genetic disease ISO RGD:1345308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000516 GFRA4 GDNF family receptor alpha 4 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1343287 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12000516 GFRA4 GDNF family receptor alpha 4 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1343287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 12000516 GFRA4 GDNF family receptor alpha 4 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1343287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12000516 GFRA4 GDNF family receptor alpha 4 gene DOID:630 genetic disease ISO RGD:1343287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000516 GFRA4 GDNF family receptor alpha 4 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1343287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 12000525 CKAP4 cytoskeleton associated protein 4 gene DOID:630 genetic disease ISO RGD:1323735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000525 CKAP4 cytoskeleton associated protein 4 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1323735 D RGD:9068941 20220616 RGD associated with tumor vascularization; mRNA,protein:increased expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 12000531 MYH7B myosin heavy chain 7B gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 12000531 MYH7B myosin heavy chain 7B gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868 12000531 MYH7B myosin heavy chain 7B gene DOID:2843 long QT syndrome ISO RGD:1317507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12000531 MYH7B myosin heavy chain 7B gene DOID:630 genetic disease ISO RGD:1317507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12000531 MYH7B myosin heavy chain 7B gene DOID:9006836 Contracture ISO RGD:1317507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures PMID:26752647|PMID:28492532 12000531 MYH7B myosin heavy chain 7B gene DOID:9007661 Dwarfism ISO RGD:1317507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12000588 ERCC5 ERCC excision repair 5, endonuclease gene DOID:0050117 disease by infectious agent treatment ISO RGD:1342473 D RGD:9068941 20221006 RGD associated with lung non-small cell carcinoma;DNA:missense mutation:CDS:p.D1104H (human) PMID:23118991|REF_RGD_ID:155260358 12000588 ERCC5 ERCC excision repair 5, endonuclease gene DOID:0050427 xeroderma pigmentosum ISO RGD:1342473 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:11841555|PMID:23370536|PMID:24033266|PMID:24700531|PMID:2478446|PMID:25741868|PMID:28492532|PMID:29130490|PMID:29749609|PMID:30838033|PMID:31130284|PMID:32522879|PMID:7951246|PMID:8317483|PMID:9096355 12000588 ERCC5 ERCC excision repair 5, endonuclease gene DOID:0080763 diffuse gastric cancer ameliorates ISO RGD:1342473 D RGD:9068941 20221006 RGD mRNA:increased expression:stomach (human) PMID:30417012|REF_RGD_ID:155260342 12000588 ERCC5 ERCC excision repair 5, endonuclease gene DOID:0080913 cerebrooculofacioskeletal syndrome 3 ISO RGD:1342473 D RGD:7240710 20180130 OMIM 12000588 ERCC5 ERCC excision repair 5, endonuclease gene DOID:0080913 cerebrooculofacioskeletal syndrome 3 ISO RGD:1342473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 3 PMID:11443545|PMID:17466625|PMID:17576681|PMID:24700531|PMID:24728327|PMID:25741868|PMID:28492532|PMID:29641532|PMID:30306255|PMID:30838033|PMID:31130284|PMID:8818951|PMID:9096355|PMID:9536098 12000588 ERCC5 ERCC excision repair 5, endonuclease gene DOID:0110849 xeroderma pigmentosum group G ISO RGD:1342473 D RGD:7240710 20180130 OMIM 12000588 ERCC5 ERCC excision repair 5, endonuclease gene DOID:0110849 xeroderma pigmentosum group G ISO RGD:1342473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group G PMID:10026181|PMID:11219864|PMID:11841555|PMID:12060391|PMID:15082767|PMID:15682379|PMID:16550608|PMID:17466625|PMID:22821389|PMID:23255472|PMID:23370536|PMID:24033266|PMID:24354460|PMID:24700531|PMID:24728327|PMID:25714468|PMID:25741868|PMID:25795128|PMID:26149386|PMID:26580448|PMID:26884178|PMID:27104957|PMID:28492532|PMID:28654958|PMID:29641532|PMID:29891518|PMID:30086788|PMID:30306255|PMID:32522879|PMID:33219753|PMID:492197|PMID:698095|PMID:7951246|PMID:9096355 12000588 ERCC5 ERCC excision repair 5, endonuclease gene DOID:0110878 holoprosencephaly 5 ISO RGD:1342473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:28492532 12000588 ERCC5 ERCC excision repair 5, endonuclease gene DOID:10534 stomach cancer ameliorates ISO RGD:1342473 D RGD:9068941 20221006 RGD DNA:SNP:intron: (rs2094258) (human) PMID:27340861|REF_RGD_ID:155260339 12000588 ERCC5 ERCC excision repair 5, endonuclease gene DOID:1324 lung cancer susceptibility ISO RGD:1342473 D RGD:9068941 20221006 RGD mRNA:decreased expression:lung (human) PMID:10910954|REF_RGD_ID:155260338 12000588 ERCC5 ERCC excision repair 5, endonuclease gene DOID:14701 propionic acidemia ISO RGD:1342473 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 12000588 ERCC5 ERCC excision repair 5, endonuclease gene DOID:1909 melanoma disease_progression ISO RGD:1342473 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.D1104H(human) PMID:21390047|REF_RGD_ID:12880434 12000588 ERCC5 ERCC excision repair 5, endonuclease gene DOID:2394 ovarian cancer ISO RGD:1342473 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:28492532 12000588 ERCC5 ERCC excision repair 5, endonuclease gene DOID:2596 larynx cancer susceptibility ISO RGD:1342473 D RGD:9068941 20221006 RGD DNA:missense mutation:CDS:p.D1104H (human) PMID:19444904|REF_RGD_ID:155260337 12000588 ERCC5 ERCC excision repair 5, endonuclease gene DOID:2962 Cockayne syndrome ISO RGD:1342473 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum and Cockayne syndrome complex | ClinVar Annotator: match by term: Xeroderma pigmentosum group G/Cockayne syndrome PMID:11228268|PMID:2478446|PMID:25741868|PMID:30838033|PMID:8317483|PMID:9096355 12000588 ERCC5 ERCC excision repair 5, endonuclease gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1342473 D RGD:9068941 20220121 RGD PMID:24782167|REF_RGD_ID:151347410 12000588 ERCC5 ERCC excision repair 5, endonuclease gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1342473 D RGD:9068941 20221006 RGD DNA:SNPs:multiple (human) PMID:28924235|REF_RGD_ID:153323316 12000588 ERCC5 ERCC excision repair 5, endonuclease gene DOID:630 genetic disease ISO RGD:1342473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12060391|PMID:23255472|PMID:23370536|PMID:24728327|PMID:25741868|PMID:25795128|PMID:26149386|PMID:28492532|PMID:30086788|PMID:30306255|PMID:32522879 12000588 ERCC5 ERCC excision repair 5, endonuclease gene DOID:687 hepatoblastoma ISO RGD:1342473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 12000588 ERCC5 ERCC excision repair 5, endonuclease gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1342473 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:34182385 12000588 ERCC5 ERCC excision repair 5, endonuclease gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1342473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12000588 ERCC5 ERCC excision repair 5, endonuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1342473 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15682379|PMID:16550608|PMID:22821389|PMID:24728327|PMID:25741868|PMID:26580448|PMID:27104957|PMID:27356891|PMID:28492532|PMID:29641532|PMID:29891518|PMID:30086788|PMID:30306255|PMID:32127467|PMID:34130653 12000588 ERCC5 ERCC excision repair 5, endonuclease gene DOID:9008443 Colorectal Neoplasms ISO RGD:1342473 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:34182385 12000588 ERCC5 ERCC excision repair 5, endonuclease gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:1342473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532 12000608 RETSAT retinol saturase gene DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 ISO RGD:731874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19139408 12000608 RETSAT retinol saturase gene DOID:630 genetic disease ISO RGD:731874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000625 PDE11A phosphodiesterase 11A gene DOID:0090022 split hand-foot malformation 5 ISO RGD:737612 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12000625 PDE11A phosphodiesterase 11A gene DOID:0110138 Bardet-Biedl syndrome 16 ISO RGD:737612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 PMID:16767104|PMID:19671705|PMID:20351491|PMID:21047926|PMID:24033266|PMID:25741868|PMID:27535533|PMID:28492532 12000625 PDE11A phosphodiesterase 11A gene DOID:5419 schizophrenia ISO RGD:737612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12000625 PDE11A phosphodiesterase 11A gene DOID:630 genetic disease ISO RGD:737612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000625 PDE11A phosphodiesterase 11A gene DOID:9002348 Primary Pigmented Nodular Adrenocortical Disease, 2 ISO RGD:737612 D RGD:7240710 20180130 OMIM 12000625 PDE11A phosphodiesterase 11A gene DOID:9002348 Primary Pigmented Nodular Adrenocortical Disease, 2 ISO RGD:737612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 2 PMID:16767104|PMID:19671705|PMID:20351491|PMID:21047926|PMID:21681106|PMID:24033266|PMID:25741868|PMID:27535533|PMID:28492532 12000665 TBC1D10C TBC1 domain family member 10C gene DOID:1059 intellectual disability ISO RGD:1606878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12000665 TBC1D10C TBC1 domain family member 10C gene DOID:630 genetic disease ISO RGD:1606878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000665 TBC1D10C TBC1 domain family member 10C gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1606878 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12000665 TBC1D10C TBC1 domain family member 10C gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1606878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12000694 GRAMD2A GRAM domain containing 2A gene DOID:2717 Bloom syndrome ISO RGD:1605266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12000694 GRAMD2A GRAM domain containing 2A gene DOID:3320 Tay-Sachs disease ISO RGD:1605266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 12000694 GRAMD2A GRAM domain containing 2A gene DOID:630 genetic disease ISO RGD:1605266 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000694 GRAMD2A GRAM domain containing 2A gene DOID:9256 colorectal cancer ISO RGD:1605266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12000719 CEP164 centrosomal protein 164 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1605084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12000719 CEP164 centrosomal protein 164 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1605084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12000719 CEP164 centrosomal protein 164 gene DOID:0080690 RASopathy ISO RGD:1605084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12000719 CEP164 centrosomal protein 164 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1605084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12000719 CEP164 centrosomal protein 164 gene DOID:0111123 nephronophthisis 15 ISO RGD:1605084 D RGD:7240710 20180130 OMIM 12000719 CEP164 centrosomal protein 164 gene DOID:0111123 nephronophthisis 15 ISO RGD:1605084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:16199547|PMID:17576681|PMID:17954613|PMID:22863007|PMID:24033266|PMID:24882706|PMID:25340510|PMID:25741868|PMID:27708425|PMID:28125082|PMID:28492532|PMID:29974258|PMID:31785789|PMID:32055034|PMID:32367404|PMID:34013113|PMID:34132027|PMID:34499853|PMID:9536098 12000719 CEP164 centrosomal protein 164 gene DOID:0111971 immunodeficiency 18 ISO RGD:1605084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12000719 CEP164 centrosomal protein 164 gene DOID:0111972 immunodeficiency 19 ISO RGD:1605084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12000719 CEP164 centrosomal protein 164 gene DOID:0111973 immunodeficiency 17 ISO RGD:1605084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12000719 CEP164 centrosomal protein 164 gene DOID:1059 intellectual disability ISO RGD:1605084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12000719 CEP164 centrosomal protein 164 gene DOID:12712 nephronophthisis ISO RGD:1605084 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 12000719 CEP164 centrosomal protein 164 gene DOID:630 genetic disease ISO RGD:1605084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12000719 CEP164 centrosomal protein 164 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1605084 D RGD:9068941 20220317 RGD associated with Chronic Hepatitis C;DNA:SNP: :rs573455 (human) PMID:22004425|REF_RGD_ID:151665169 12000719 CEP164 centrosomal protein 164 gene DOID:8501 fundus dystrophy ISO RGD:1605084 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 12000719 CEP164 centrosomal protein 164 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12000719 CEP164 centrosomal protein 164 gene DOID:9007661 Dwarfism ISO RGD:1605084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12000756 IRAK2 interleukin 1 receptor associated kinase 2 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1319999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 12000756 IRAK2 interleukin 1 receptor associated kinase 2 gene DOID:14175 von Hippel-Lindau disease ISO RGD:1319999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Von Hippel-Lindau syndrome PMID:25741868 12000756 IRAK2 interleukin 1 receptor associated kinase 2 gene DOID:630 genetic disease ISO RGD:1319999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000756 IRAK2 interleukin 1 receptor associated kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12000756 IRAK2 interleukin 1 receptor associated kinase 2 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1319999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12000785 MED18 mediator complex subunit 18 gene DOID:630 genetic disease ISO RGD:1347067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000796 TMEM38A transmembrane protein 38A gene DOID:0080600 COVID-19 ISO RGD:1351909 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12000796 TMEM38A transmembrane protein 38A gene DOID:630 genetic disease ISO RGD:1351909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000814 STK31 serine/threonine kinase 31 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12000814 STK31 serine/threonine kinase 31 gene DOID:630 genetic disease ISO RGD:1606534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000842 S100A5 S100 calcium binding protein A5 gene DOID:0111940 immunodeficiency 42 ISO RGD:1319090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12000842 S100A5 S100 calcium binding protein A5 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1319090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12000842 S100A5 S100 calcium binding protein A5 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1319090 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12000842 S100A5 S100 calcium binding protein A5 gene DOID:1540 parathyroid carcinoma ISO RGD:1319090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12000842 S100A5 S100 calcium binding protein A5 gene DOID:3525 middle cerebral artery infarction ISO RGD:1319090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25257527 12000842 S100A5 S100 calcium binding protein A5 gene DOID:5812 MHC class II deficiency ISO RGD:1319090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12000842 S100A5 S100 calcium binding protein A5 gene DOID:630 genetic disease ISO RGD:1319090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000842 S100A5 S100 calcium binding protein A5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12000850 ARID5B AT-rich interaction domain 5B gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1323345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12000850 ARID5B AT-rich interaction domain 5B gene DOID:12361 Graves' disease ISO RGD:1323345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 12000850 ARID5B AT-rich interaction domain 5B gene DOID:630 genetic disease ISO RGD:1323345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000850 ARID5B AT-rich interaction domain 5B gene DOID:7148 rheumatoid arthritis ISO RGD:1323345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446963|PMID:23143596 12000850 ARID5B AT-rich interaction domain 5B gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1323345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24712521 12000850 ARID5B AT-rich interaction domain 5B gene DOID:9008086 Developmental Disabilities ISO RGD:1323345 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12000850 ARID5B AT-rich interaction domain 5B gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1323345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19684603|PMID:19684604 12000872 IL1B interleukin 1 beta gene DOID:0050127 sinusitis ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Hypersensitivity PMID:16358839|REF_RGD_ID:4143214 12000872 IL1B interleukin 1 beta gene DOID:0050700 cardiomyopathy ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 12000872 IL1B interleukin 1 beta gene DOID:0050848 obstructive sleep apnea ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:19342292|REF_RGD_ID:4142845 12000872 IL1B interleukin 1 beta gene DOID:0050848 obstructive sleep apnea ISO RGD:730981 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:20040038|REF_RGD_ID:4142829 12000872 IL1B interleukin 1 beta gene DOID:0050851 glomerulosclerosis ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Hypertension PMID:19948880|REF_RGD_ID:7175503 12000872 IL1B interleukin 1 beta gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:2891 D RGD:9068941 20220715 RGD associated with social isolation;protein:increased expression:tongue (rat) PMID:33411841|REF_RGD_ID:152998999 12000872 IL1B interleukin 1 beta gene DOID:0050908 myelodysplastic syndrome ISO RGD:730981 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow PMID:10697556|REF_RGD_ID:10450881 12000872 IL1B interleukin 1 beta gene DOID:0060180 colitis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22969190|REF_RGD_ID:7204699 12000872 IL1B interleukin 1 beta gene DOID:0060180 colitis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23810507|PMID:24548422 12000872 IL1B interleukin 1 beta gene DOID:0060496 respiratory allergy ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:12663678|REF_RGD_ID:4143222 12000872 IL1B interleukin 1 beta gene DOID:0080000 muscular disease ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9184656 12000872 IL1B interleukin 1 beta gene DOID:0080158 herpes simplex virus keratitis ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA:increased expression:cornea PMID:10624423|REF_RGD_ID:7401196 12000872 IL1B interleukin 1 beta gene DOID:0080162 lupus nephritis ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:21641991|REF_RGD_ID:7175315 12000872 IL1B interleukin 1 beta gene DOID:0080162 lupus nephritis ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (mouse) PMID:20410215|REF_RGD_ID:7175344 12000872 IL1B interleukin 1 beta gene DOID:0080178 mucositis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22984629|REF_RGD_ID:7204497 12000872 IL1B interleukin 1 beta gene DOID:0080178 mucositis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20844880 12000872 IL1B interleukin 1 beta gene DOID:0080178 mucositis treatment ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:30987265|REF_RGD_ID:14975283 12000872 IL1B interleukin 1 beta gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNPs:CDS:rs1143634 (human) PMID:27730688|REF_RGD_ID:14975293 12000872 IL1B interleukin 1 beta gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:730981 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32613381 12000872 IL1B interleukin 1 beta gene DOID:0080208 non-alcoholic fatty liver disease no_association ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNPs:CDS:rs16944 (human) PMID:27730688|REF_RGD_ID:14975293 12000872 IL1B interleukin 1 beta gene DOID:0080519 PAPA syndrome ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 12000872 IL1B interleukin 1 beta gene DOID:0080547 non-alcoholic steatohepatitis ameliorates ISO RGD:10790 D RGD:9068941 20210702 RGD PMID:28100771|REF_RGD_ID:127285675 12000872 IL1B interleukin 1 beta gene DOID:0080600 COVID-19 ISO RGD:730981 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12000872 IL1B interleukin 1 beta gene DOID:0080600 COVID-19 ISO RGD:730981 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12000872 IL1B interleukin 1 beta gene DOID:0080600 COVID-19 ISO RGD:730981 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:32171193 12000872 IL1B interleukin 1 beta gene DOID:0080600 COVID-19 severity ISO RGD:730981 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 12000872 IL1B interleukin 1 beta gene DOID:0080642 Middle East respiratory syndrome ISO RGD:10790 D RGD:9068941 20200618 RGD PMID:30626685|REF_RGD_ID:30309198 12000872 IL1B interleukin 1 beta gene DOID:0080642 Middle East respiratory syndrome onset ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 12000872 IL1B interleukin 1 beta gene DOID:0080642 Middle East respiratory syndrome treatment ISO RGD:10790 D RGD:9068941 20200625 RGD PMID:30634407|REF_RGD_ID:30309958 12000872 IL1B interleukin 1 beta gene DOID:0080744 antisynthetase syndrome ISO RGD:730981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Antisynthetase syndrome 12000872 IL1B interleukin 1 beta gene DOID:0080745 polymyositis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 12000872 IL1B interleukin 1 beta gene DOID:0080784 urinary tract infection ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:20886104|REF_RGD_ID:7175340 12000872 IL1B interleukin 1 beta gene DOID:0080784 urinary tract infection ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:19171043|REF_RGD_ID:2311084 12000872 IL1B interleukin 1 beta gene DOID:0080855 Parkinsonism ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:hypothalamus PMID:17520785|REF_RGD_ID:1626658 12000872 IL1B interleukin 1 beta gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA:increased expression:peritoneal macrophages (rat) PMID:22964727|REF_RGD_ID:7204517 12000872 IL1B interleukin 1 beta gene DOID:0081292 traumatic brain injury ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28642177 12000872 IL1B interleukin 1 beta gene DOID:10126 keratoconus ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:-31T>C (rs1143627), -511C>T (rs16944) (human) PMID:23592922|REF_RGD_ID:7401165 12000872 IL1B interleukin 1 beta gene DOID:10140 dry eye syndrome ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:rs1143634 (human) PMID:22128229|REF_RGD_ID:7401190 12000872 IL1B interleukin 1 beta gene DOID:10140 dry eye syndrome no_association ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:rs16944, rs1143627 (human) PMID:22128229|REF_RGD_ID:7401190 12000872 IL1B interleukin 1 beta gene DOID:10223 dermatomyositis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19035492 12000872 IL1B interleukin 1 beta gene DOID:10241 thalassemia ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11732868|REF_RGD_ID:10450569 12000872 IL1B interleukin 1 beta gene DOID:10247 pleurisy ISO RGD:10790 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20175894|REF_RGD_ID:4142826 12000872 IL1B interleukin 1 beta gene DOID:10247 pleurisy ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:20141620|REF_RGD_ID:4142808 12000872 IL1B interleukin 1 beta gene DOID:10247 pleurisy ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:pleural cavity, exudate (rat) PMID:21898269|REF_RGD_ID:7175307 12000872 IL1B interleukin 1 beta gene DOID:10247 pleurisy ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181422 12000872 IL1B interleukin 1 beta gene DOID:10320 asbestosis ISO RGD:730981 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:8473757 12000872 IL1B interleukin 1 beta gene DOID:10325 silicosis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23640035 12000872 IL1B interleukin 1 beta gene DOID:10327 anthracosis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20005085 12000872 IL1B interleukin 1 beta gene DOID:10459 common cold ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucus PMID:7734976|REF_RGD_ID:7401200 12000872 IL1B interleukin 1 beta gene DOID:10533 viral pneumonia ISO RGD:730981 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12000872 IL1B interleukin 1 beta gene DOID:10534 stomach cancer ISO RGD:730981 D RGD:7240710 20220209 OMIM 12000872 IL1B interleukin 1 beta gene DOID:10534 stomach cancer susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-31T>C (human) PMID:21653279|REF_RGD_ID:7401222 12000872 IL1B interleukin 1 beta gene DOID:106 pleural tuberculosis ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphism: :3953T>C (human) PMID:10377182|REF_RGD_ID:4143226 12000872 IL1B interleukin 1 beta gene DOID:10652 Alzheimer's disease ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22963993|REF_RGD_ID:7204700 12000872 IL1B interleukin 1 beta gene DOID:10652 Alzheimer's disease ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18675847 12000872 IL1B interleukin 1 beta gene DOID:10652 Alzheimer's disease ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNP: :rs1143634 (human) PMID:18830724|REF_RGD_ID:13792820 12000872 IL1B interleukin 1 beta gene DOID:10652 Alzheimer's disease ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-31T>C (human) PMID:24022074|PMID:26937653|REF_RGD_ID:11522340|REF_RGD_ID:13792818 12000872 IL1B interleukin 1 beta gene DOID:10652 Alzheimer's disease no_association ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNP: :rs1143634 (human) PMID:18830724|PMID:20413850|REF_RGD_ID:13792820|REF_RGD_ID:13793381 12000872 IL1B interleukin 1 beta gene DOID:10652 Alzheimer's disease onset ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16600299|REF_RGD_ID:1626633 12000872 IL1B interleukin 1 beta gene DOID:10652 Alzheimer's disease treatment ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:29447949|REF_RGD_ID:13792816 12000872 IL1B interleukin 1 beta gene DOID:10652 Alzheimer's disease treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23378761|REF_RGD_ID:13792819 12000872 IL1B interleukin 1 beta gene DOID:10652 Alzheimer's disease treatment ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:24874542|REF_RGD_ID:13792817 12000872 IL1B interleukin 1 beta gene DOID:1074 kidney failure ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (mouse) PMID:21907489|REF_RGD_ID:7175305 12000872 IL1B interleukin 1 beta gene DOID:1074 kidney failure ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:20722564|REF_RGD_ID:7175345 12000872 IL1B interleukin 1 beta gene DOID:10754 otitis media ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22173336|REF_RGD_ID:7401215 12000872 IL1B interleukin 1 beta gene DOID:10754 otitis media ISO RGD:8999086 D RGD:9068941 20200609 RGD PMID:10085040|REF_RGD_ID:11553900 12000872 IL1B interleukin 1 beta gene DOID:10762 portal hypertension ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15951934|REF_RGD_ID:1626634 12000872 IL1B interleukin 1 beta gene DOID:10763 hypertension ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:21173343|REF_RGD_ID:7175338 12000872 IL1B interleukin 1 beta gene DOID:10763 hypertension ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta, plasma PMID:15894892|REF_RGD_ID:1626635 12000872 IL1B interleukin 1 beta gene DOID:10763 hypertension ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Obesity;protein:increased expression:plasma PMID:15990729|REF_RGD_ID:1626638 12000872 IL1B interleukin 1 beta gene DOID:10763 hypertension ISO RGD:730981 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:27292124|PMID:27659729|PMID:27847271|PMID:32147540|PMID:32165127 12000872 IL1B interleukin 1 beta gene DOID:10808 gastric ulcer ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11376495 12000872 IL1B interleukin 1 beta gene DOID:10825 essential hypertension ISO RGD:730981 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 12000872 IL1B interleukin 1 beta gene DOID:10976 membranous glomerulonephritis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:20588061|REF_RGD_ID:7175342 12000872 IL1B interleukin 1 beta gene DOID:10983 Alport syndrome ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:22937108|REF_RGD_ID:7175090 12000872 IL1B interleukin 1 beta gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:730981 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder tumor (human) PMID:21308147|REF_RGD_ID:7175327 12000872 IL1B interleukin 1 beta gene DOID:11111 hydronephrosis ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:renal inner medulla, urine (rat) PMID:22150692|REF_RGD_ID:7175264 12000872 IL1B interleukin 1 beta gene DOID:11204 allergic conjunctivitis treatment ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:9326725|REF_RGD_ID:7401198 12000872 IL1B interleukin 1 beta gene DOID:11394 adult respiratory distress syndrome ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:18065658|REF_RGD_ID:4142869 12000872 IL1B interleukin 1 beta gene DOID:11394 adult respiratory distress syndrome disease_progression ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:bronchioalveolar lavage fluid (human) PMID:8810593|REF_RGD_ID:4143190 12000872 IL1B interleukin 1 beta gene DOID:11396 pulmonary edema ISO RGD:10790 D RGD:9068941 20200609 RGD associated with Subarachnoid Hemorrhage;protein:increased expression:lung PMID:19875734|REF_RGD_ID:4142817 12000872 IL1B interleukin 1 beta gene DOID:11446 sciatic neuropathy treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22173123|REF_RGD_ID:7364836 12000872 IL1B interleukin 1 beta gene DOID:11476 osteoporosis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22997530|REF_RGD_ID:7204491 12000872 IL1B interleukin 1 beta gene DOID:11650 bronchopulmonary dysplasia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16813970 12000872 IL1B interleukin 1 beta gene DOID:11650 bronchopulmonary dysplasia ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15539764|REF_RGD_ID:4143172 12000872 IL1B interleukin 1 beta gene DOID:11832 visual epilepsy ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:16886979|REF_RGD_ID:2315919 12000872 IL1B interleukin 1 beta gene DOID:1184 nephrotic syndrome ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:21359962|REF_RGD_ID:7175324 12000872 IL1B interleukin 1 beta gene DOID:1184 nephrotic syndrome ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21103916|REF_RGD_ID:7175339 12000872 IL1B interleukin 1 beta gene DOID:1184 nephrotic syndrome severity ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Purpura, Schoenlein-Henoch; DNA:snp:promoter:g.-511C>T (human) PMID:14760799|REF_RGD_ID:7175337 12000872 IL1B interleukin 1 beta gene DOID:1205 allergic disease ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12000872 IL1B interleukin 1 beta gene DOID:12098 trigeminal neuralgia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12000872 IL1B interleukin 1 beta gene DOID:1227 neutropenia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1884014 12000872 IL1B interleukin 1 beta gene DOID:12337 varicocele ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:16616101|REF_RGD_ID:2311094 12000872 IL1B interleukin 1 beta gene DOID:12361 Graves' disease ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:2674184|REF_RGD_ID:7401207 12000872 IL1B interleukin 1 beta gene DOID:12361 Graves' disease ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-511C>T (human) PMID:16025481|REF_RGD_ID:7401177 12000872 IL1B interleukin 1 beta gene DOID:12385 shigellosis treatment ISO RGD:10790 D RGD:9068941 20201022 RGD PMID:30615126|REF_RGD_ID:39938959 12000872 IL1B interleukin 1 beta gene DOID:12554 hemolytic-uremic syndrome ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15384034 12000872 IL1B interleukin 1 beta gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 12000872 IL1B interleukin 1 beta gene DOID:12662 paracoccidioidomycosis treatment ISO RGD:730981 D RGD:9068941 20201015 RGD PMID:28992214|REF_RGD_ID:39938858 12000872 IL1B interleukin 1 beta gene DOID:12934 Kearns-Sayre syndrome ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 12000872 IL1B interleukin 1 beta gene DOID:12987 agranulocytosis treatment ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:1331350|REF_RGD_ID:10450883 12000872 IL1B interleukin 1 beta gene DOID:13025 retinopathy of prematurity ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23113620|REF_RGD_ID:7204128 12000872 IL1B interleukin 1 beta gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:21412216|REF_RGD_ID:7175321 12000872 IL1B interleukin 1 beta gene DOID:13139 crescentic glomerulonephritis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:19959716|REF_RGD_ID:7175502 12000872 IL1B interleukin 1 beta gene DOID:13141 uveitis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:8125721|REF_RGD_ID:7401166 12000872 IL1B interleukin 1 beta gene DOID:13141 uveitis ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:1318867|REF_RGD_ID:7401178 12000872 IL1B interleukin 1 beta gene DOID:13189 gout ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26462562 12000872 IL1B interleukin 1 beta gene DOID:13241 Behcet's disease ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14600787|REF_RGD_ID:7401213 12000872 IL1B interleukin 1 beta gene DOID:13378 Kawasaki disease ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:22361326|REF_RGD_ID:6482661 12000872 IL1B interleukin 1 beta gene DOID:13378 Kawasaki disease ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:8777922|REF_RGD_ID:7401221 12000872 IL1B interleukin 1 beta gene DOID:13619 extrahepatic cholestasis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 12000872 IL1B interleukin 1 beta gene DOID:1387 hypolipoproteinemia ISO RGD:730981 D RGD:9068941 20200609 RGD mRNA:increased expression:macrophage PMID:17322100|REF_RGD_ID:1625405 12000872 IL1B interleukin 1 beta gene DOID:1389 polyneuropathy treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:29307658|REF_RGD_ID:13792836 12000872 IL1B interleukin 1 beta gene DOID:14115 toxic shock syndrome severity ISO RGD:10790 D RGD:9068941 20201211 RGD protein:increased expression:lung (mouse) PMID:28659355|REF_RGD_ID:40890272 12000872 IL1B interleukin 1 beta gene DOID:14330 Parkinson's disease ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23159314|REF_RGD_ID:7175549 12000872 IL1B interleukin 1 beta gene DOID:14330 Parkinson's disease ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:12070246|REF_RGD_ID:1358742 12000872 IL1B interleukin 1 beta gene DOID:14566 disease of cellular proliferation ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22467534 12000872 IL1B interleukin 1 beta gene DOID:1485 cystic fibrosis ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:10515411|REF_RGD_ID:4143181 12000872 IL1B interleukin 1 beta gene DOID:1485 cystic fibrosis severity ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1143634, rs1143639 (human) PMID:19431193|REF_RGD_ID:4142844 12000872 IL1B interleukin 1 beta gene DOID:1555 urticaria ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12121561 12000872 IL1B interleukin 1 beta gene DOID:1588 thrombocytopenia treatment ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:1331350|REF_RGD_ID:10450883 12000872 IL1B interleukin 1 beta gene DOID:1596 depressive disorder ISO RGD:10790 D RGD:9068941 20210507 RGD protein:increased expression:serum, hippocampus (mouse) PMID:31396300|REF_RGD_ID:126908003 12000872 IL1B interleukin 1 beta gene DOID:1596 depressive disorder ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:frontal cortex, hippocampus, hypothalamus (rat) PMID:15000880|REF_RGD_ID:1626681 12000872 IL1B interleukin 1 beta gene DOID:1596 depressive disorder ISO RGD:730981 D RGD:9068941 20210528 RGD associated with gastric adenocarcinoma; protein:increased expression:blood serum (human) PMID:31396300|REF_RGD_ID:126908003 12000872 IL1B interleukin 1 beta gene DOID:1612 breast cancer susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-31T>C (human) PMID:21653279|REF_RGD_ID:7401222 12000872 IL1B interleukin 1 beta gene DOID:1679 cystitis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23000860|REF_RGD_ID:7175333 12000872 IL1B interleukin 1 beta gene DOID:1679 cystitis ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:urinary bladder PMID:11948286|REF_RGD_ID:6907118 12000872 IL1B interleukin 1 beta gene DOID:1727 retinal vein occlusion ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA:increased expression:neuroretina, retinal pigment epithelium (rat) PMID:21487926|REF_RGD_ID:5490120 12000872 IL1B interleukin 1 beta gene DOID:1793 pancreatic cancer ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:7787209|REF_RGD_ID:2311069 12000872 IL1B interleukin 1 beta gene DOID:1793 pancreatic cancer susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:-511C>T, -31T>C (human) PMID:19251436|REF_RGD_ID:2317215 12000872 IL1B interleukin 1 beta gene DOID:182 calcinosis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12000872 IL1B interleukin 1 beta gene DOID:1824 status epilepticus ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22960129|REF_RGD_ID:7204701 12000872 IL1B interleukin 1 beta gene DOID:1824 status epilepticus ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:14678765|REF_RGD_ID:1626682 12000872 IL1B interleukin 1 beta gene DOID:1826 epilepsy ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:brain,plasma PMID:28303499|REF_RGD_ID:13524859 12000872 IL1B interleukin 1 beta gene DOID:1883 hepatitis C ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Glomerulonephritis; protein:increased expression:serum (human) PMID:21623661|REF_RGD_ID:7175316 12000872 IL1B interleukin 1 beta gene DOID:1936 atherosclerosis ISO RGD:10790 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic PMID:21245127|REF_RGD_ID:7175328 12000872 IL1B interleukin 1 beta gene DOID:1936 atherosclerosis ameliorates ISO RGD:10790 D RGD:9068941 20230330 RGD PMID:35854140|REF_RGD_ID:242905195 12000872 IL1B interleukin 1 beta gene DOID:216 dental caries ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNP: :rs1143627C>T (human) PMID:30803280|REF_RGD_ID:14975276 12000872 IL1B interleukin 1 beta gene DOID:2228 thrombocytosis ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:2265245|REF_RGD_ID:10450885 12000872 IL1B interleukin 1 beta gene DOID:224 transient cerebral ischemia ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:22284622|REF_RGD_ID:7175554 12000872 IL1B interleukin 1 beta gene DOID:224 transient cerebral ischemia ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23147509|REF_RGD_ID:7175551 12000872 IL1B interleukin 1 beta gene DOID:2297 leptospirosis ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (mouse) PMID:22323544|REF_RGD_ID:7175257 12000872 IL1B interleukin 1 beta gene DOID:2316 brain ischemia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15737438|PMID:15756928|PMID:17394460|PMID:9236716 12000872 IL1B interleukin 1 beta gene DOID:2349 arteriosclerosis ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Chlamydia Infections PMID:17132885|REF_RGD_ID:1626629 12000872 IL1B interleukin 1 beta gene DOID:2349 arteriosclerosis ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:decreased expression:monocyte PMID:17189873|REF_RGD_ID:1626627 12000872 IL1B interleukin 1 beta gene DOID:2349 arteriosclerosis susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNP:promoter PMID:17213232|REF_RGD_ID:1626624 12000872 IL1B interleukin 1 beta gene DOID:2355 anemia ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid;protein:increased expression:serum PMID:3264697|REF_RGD_ID:10450886 12000872 IL1B interleukin 1 beta gene DOID:2377 multiple sclerosis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15210533|PMID:25458313 12000872 IL1B interleukin 1 beta gene DOID:2377 multiple sclerosis severity ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:10025794|REF_RGD_ID:1358741 12000872 IL1B interleukin 1 beta gene DOID:2527 nephrosis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22582804|REF_RGD_ID:7175170 12000872 IL1B interleukin 1 beta gene DOID:2841 asthma ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:19684087|REF_RGD_ID:4142836 12000872 IL1B interleukin 1 beta gene DOID:2841 asthma ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9176529 12000872 IL1B interleukin 1 beta gene DOID:2841 asthma ISO RGD:730981 D RGD:9068941 20200609 RGD protein:decreased expression:neutrophil PMID:19842845|REF_RGD_ID:4142830 12000872 IL1B interleukin 1 beta gene DOID:2841 asthma susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphism: :-511C>T (human) PMID:18926055|REF_RGD_ID:4142864 12000872 IL1B interleukin 1 beta gene DOID:289 endometriosis ISO RGD:730981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometriosis 12000872 IL1B interleukin 1 beta gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:21871881|REF_RGD_ID:7175308 12000872 IL1B interleukin 1 beta gene DOID:2921 glomerulonephritis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10910440|PMID:9403216 12000872 IL1B interleukin 1 beta gene DOID:2942 bronchiolitis ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:8608647|REF_RGD_ID:4143192 12000872 IL1B interleukin 1 beta gene DOID:2945 severe acute respiratory syndrome ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA:altered expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 12000872 IL1B interleukin 1 beta gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:10790 D RGD:9068941 20200618 RGD mRNA, protein:increased expression:lung, bronchoalveolar lavage (mouse) PMID:32365944|REF_RGD_ID:30309207 12000872 IL1B interleukin 1 beta gene DOID:2957 pulmonary tuberculosis severity ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:bronchioalveolar lavage fluid (human) PMID:10631206|REF_RGD_ID:4143179 12000872 IL1B interleukin 1 beta gene DOID:2957 pulmonary tuberculosis severity ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:10543265|REF_RGD_ID:4143180 12000872 IL1B interleukin 1 beta gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphism: :3953T>C (human) PMID:16634865|REF_RGD_ID:5147843 12000872 IL1B interleukin 1 beta gene DOID:2986 IgA glomerulonephritis ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1143627, rs3917356, rs1143633 (human) PMID:19280228|REF_RGD_ID:6907082 12000872 IL1B interleukin 1 beta gene DOID:2986 IgA glomerulonephritis no_association ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNP PMID:21049406|REF_RGD_ID:6907116 12000872 IL1B interleukin 1 beta gene DOID:2987 familial Mediterranean fever ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22384525|REF_RGD_ID:6482659 12000872 IL1B interleukin 1 beta gene DOID:299 adenocarcinoma ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19028472 12000872 IL1B interleukin 1 beta gene DOID:3021 acute kidney failure ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:22286667|REF_RGD_ID:7175258 12000872 IL1B interleukin 1 beta gene DOID:3021 acute kidney failure ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney, liver, spleen (mouse) PMID:21677145|REF_RGD_ID:7175314 12000872 IL1B interleukin 1 beta gene DOID:3021 acute kidney failure ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22750969|REF_RGD_ID:7175094 12000872 IL1B interleukin 1 beta gene DOID:3021 acute kidney failure ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:22659586|REF_RGD_ID:7175102 12000872 IL1B interleukin 1 beta gene DOID:3068 glioblastoma ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16356833 12000872 IL1B interleukin 1 beta gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphism: :-31T>C (human) PMID:18364273|REF_RGD_ID:4142868 12000872 IL1B interleukin 1 beta gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-31T>C, 3953T>C (human) PMID:17380888|REF_RGD_ID:4142873 12000872 IL1B interleukin 1 beta gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-31T>C, -511C>T (human) PMID:18579366|REF_RGD_ID:4142866 12000872 IL1B interleukin 1 beta gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-31T>C, 3954T>C (human) PMID:15766560|REF_RGD_ID:4143169 12000872 IL1B interleukin 1 beta gene DOID:310 MERRF Syndrome ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 12000872 IL1B interleukin 1 beta gene DOID:3229 gastric dilatation ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:30249047|REF_RGD_ID:14975138 12000872 IL1B interleukin 1 beta gene DOID:3310 atopic dermatitis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 12000872 IL1B interleukin 1 beta gene DOID:3393 coronary artery disease ISO RGD:730981 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood (human) PMID:22780915|REF_RGD_ID:7175093 12000872 IL1B interleukin 1 beta gene DOID:3454 brain infarction ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:17678971|REF_RGD_ID:1626644 12000872 IL1B interleukin 1 beta gene DOID:3482 plague ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:20565713|REF_RGD_ID:4142820 12000872 IL1B interleukin 1 beta gene DOID:3525 middle cerebral artery infarction ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:23028794|REF_RGD_ID:7204480 12000872 IL1B interleukin 1 beta gene DOID:3525 middle cerebral artery infarction ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25257527 12000872 IL1B interleukin 1 beta gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:2891 D RGD:9068941 20230330 RGD PMID:35322553|REF_RGD_ID:242905190 12000872 IL1B interleukin 1 beta gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:24916922|PMID:29498696|REF_RGD_ID:10450594|REF_RGD_ID:13792833 12000872 IL1B interleukin 1 beta gene DOID:3526 cerebral infarction treatment ISO RGD:10790 D RGD:9068941 20220930 RGD PMID:29111308|REF_RGD_ID:155260331 12000872 IL1B interleukin 1 beta gene DOID:3612 retinitis ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:9008627|REF_RGD_ID:7401167 12000872 IL1B interleukin 1 beta gene DOID:3687 MELAS syndrome ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 12000872 IL1B interleukin 1 beta gene DOID:37 skin disease ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338|PMID:22533443 12000872 IL1B interleukin 1 beta gene DOID:3717 gastric adenocarcinoma ISO RGD:730981 D RGD:9068941 20210507 RGD protein:increased expression:blood serum (human) PMID:31396300|REF_RGD_ID:126908003 12000872 IL1B interleukin 1 beta gene DOID:3770 pulmonary fibrosis ISO RGD:10790 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20522787|REF_RGD_ID:4142535 12000872 IL1B interleukin 1 beta gene DOID:3770 pulmonary fibrosis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23132788|REF_RGD_ID:7193137 12000872 IL1B interleukin 1 beta gene DOID:3770 pulmonary fibrosis ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19945540|REF_RGD_ID:4142813 12000872 IL1B interleukin 1 beta gene DOID:3770 pulmonary fibrosis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17266442|PMID:23640035 12000872 IL1B interleukin 1 beta gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphism: :-31T>C (human) PMID:16126303|REF_RGD_ID:4143167 12000872 IL1B interleukin 1 beta gene DOID:4079 heart valve disease ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12000872 IL1B interleukin 1 beta gene DOID:418 systemic scleroderma susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:-31T>C,-511C>T (human) PMID:17444587|REF_RGD_ID:4142872 12000872 IL1B interleukin 1 beta gene DOID:4195 hyperglycemia ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17047293|REF_RGD_ID:1626631 12000872 IL1B interleukin 1 beta gene DOID:4362 cervical cancer susceptibility ISO RGD:730981 D RGD:9068941 20200724 RGD associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human) PMID:25893807|REF_RGD_ID:36174015 12000872 IL1B interleukin 1 beta gene DOID:4481 allergic rhinitis ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucus PMID:7750009|REF_RGD_ID:7401199 12000872 IL1B interleukin 1 beta gene DOID:4483 rhinitis ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium PMID:20490816|REF_RGD_ID:4142821 12000872 IL1B interleukin 1 beta gene DOID:4483 rhinitis ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Hypersensitivity;protein:increased expression:nasal mucus PMID:10224452|REF_RGD_ID:4143227 12000872 IL1B interleukin 1 beta gene DOID:4483 rhinitis susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Hypersensitivity;DNA:polymorphism: :-511C>T (human) PMID:14533660|REF_RGD_ID:4142859 12000872 IL1B interleukin 1 beta gene DOID:4692 endophthalmitis ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:vitreous: PMID:16544114|REF_RGD_ID:7829753 12000872 IL1B interleukin 1 beta gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (mouse) PMID:22046355|REF_RGD_ID:6893447 12000872 IL1B interleukin 1 beta gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:9198037|REF_RGD_ID:7401232 12000872 IL1B interleukin 1 beta gene DOID:4989 pancreatitis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23070084|REF_RGD_ID:7204440 12000872 IL1B interleukin 1 beta gene DOID:5041 esophageal cancer treatment ISO RGD:730981 D RGD:9068941 20220715 RGD PMID:26603620|REF_RGD_ID:152998997 12000872 IL1B interleukin 1 beta gene DOID:5199 ureteral obstruction ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (mouse) PMID:22048127|REF_RGD_ID:7175301 12000872 IL1B interleukin 1 beta gene DOID:5199 ureteral obstruction ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:21370451|REF_RGD_ID:7175323 12000872 IL1B interleukin 1 beta gene DOID:535 sleep disorder ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17520785 12000872 IL1B interleukin 1 beta gene DOID:5419 schizophrenia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 12000872 IL1B interleukin 1 beta gene DOID:5463 cochlear disease treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:29304389|REF_RGD_ID:13792837 12000872 IL1B interleukin 1 beta gene DOID:552 pneumonia ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:19901996|PMID:20007584|REF_RGD_ID:4142812|REF_RGD_ID:4143211 12000872 IL1B interleukin 1 beta gene DOID:552 pneumonia ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:20155581|REF_RGD_ID:4142827 12000872 IL1B interleukin 1 beta gene DOID:552 pneumonia ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:20476872|REF_RGD_ID:4142536 12000872 IL1B interleukin 1 beta gene DOID:552 pneumonia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12000872 IL1B interleukin 1 beta gene DOID:552 pneumonia ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19825784|REF_RGD_ID:4142831 12000872 IL1B interleukin 1 beta gene DOID:552 pneumonia ISO RGD:730981 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12000872 IL1B interleukin 1 beta gene DOID:5614 eye disease ISO RGD:730981 D RGD:9068941 20200609 RGD asociated with Behcet's disease PMID:26654556|REF_RGD_ID:14975256 12000872 IL1B interleukin 1 beta gene DOID:5844 myocardial infarction ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23143013|REF_RGD_ID:7175553 12000872 IL1B interleukin 1 beta gene DOID:5844 myocardial infarction ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:23237935|REF_RGD_ID:7204425 12000872 IL1B interleukin 1 beta gene DOID:5844 myocardial infarction ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11743230|PMID:15883752|PMID:16310260 12000872 IL1B interleukin 1 beta gene DOID:5844 myocardial infarction ameliorates ISO RGD:2891 D RGD:9068941 20230330 RGD PMID:33389498|REF_RGD_ID:242905187 12000872 IL1B interleukin 1 beta gene DOID:6000 congestive heart failure ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15135663 12000872 IL1B interleukin 1 beta gene DOID:614 lymphopenia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1884014 12000872 IL1B interleukin 1 beta gene DOID:630 genetic disease ISO RGD:730981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000872 IL1B interleukin 1 beta gene DOID:6432 pulmonary hypertension ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Scleroderma, Limited;protein:increased expression:serum PMID:20808962|REF_RGD_ID:4892610 12000872 IL1B interleukin 1 beta gene DOID:6432 pulmonary hypertension ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20713898|REF_RGD_ID:4142530 12000872 IL1B interleukin 1 beta gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-31T>C (human) PMID:21653279|REF_RGD_ID:7401222 12000872 IL1B interleukin 1 beta gene DOID:699 mitochondrial myopathy ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 12000872 IL1B interleukin 1 beta gene DOID:705 Leber hereditary optic neuropathy ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 12000872 IL1B interleukin 1 beta gene DOID:7148 rheumatoid arthritis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12566094|PMID:17379860|PMID:22450443 12000872 IL1B interleukin 1 beta gene DOID:7148 rheumatoid arthritis ISO RGD:730981 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:22414257|REF_RGD_ID:6482656 12000872 IL1B interleukin 1 beta gene DOID:7148 rheumatoid arthritis ISO RGD:730981 D RGD:9068941 20221117 RGD mRNA:increased expression:synovial (human) PMID:22660635|REF_RGD_ID:155663483 12000872 IL1B interleukin 1 beta gene DOID:7427 anthrax disease disease_progression ISO RGD:10790 D RGD:9068941 20201211 RGD mRNA:decreased expression:multiple (mouse) PMID:19075243|REF_RGD_ID:40902812 12000872 IL1B interleukin 1 beta gene DOID:750 peptic ulcer disease ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19448967 12000872 IL1B interleukin 1 beta gene DOID:769 neuroblastoma ISO RGD:730981 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 12000872 IL1B interleukin 1 beta gene DOID:7693 abdominal aortic aneurysm ISO RGD:2891 D RGD:9068941 20201002 RGD protein:decreased expression:serum (rat) PMID:15238617|REF_RGD_ID:1302825 12000872 IL1B interleukin 1 beta gene DOID:783 end stage renal disease ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22031851|REF_RGD_ID:7175302 12000872 IL1B interleukin 1 beta gene DOID:783 end stage renal disease ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:20199183|REF_RGD_ID:7175346 12000872 IL1B interleukin 1 beta gene DOID:783 end stage renal disease no_association ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNP PMID:20551628|REF_RGD_ID:6907070 12000872 IL1B interleukin 1 beta gene DOID:784 chronic kidney disease ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (mouse) PMID:21975861|REF_RGD_ID:7175304 12000872 IL1B interleukin 1 beta gene DOID:784 chronic kidney disease ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22728154|REF_RGD_ID:7175095 12000872 IL1B interleukin 1 beta gene DOID:784 chronic kidney disease ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:22613545|REF_RGD_ID:7175169 12000872 IL1B interleukin 1 beta gene DOID:784 chronic kidney disease ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Periodontitis; DNA:SNP:intron:g.3954C>T (human) PMID:22795294|REF_RGD_ID:6906881 12000872 IL1B interleukin 1 beta gene DOID:784 chronic kidney disease ISO RGD:730981 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:22398717|REF_RGD_ID:7175171 12000872 IL1B interleukin 1 beta gene DOID:824 periodontitis ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA:increased expression:gingiva, stroma (rat) PMID:23167849|REF_RGD_ID:7175547 12000872 IL1B interleukin 1 beta gene DOID:824 periodontitis ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Severe Congenital Neutropenia;protein:increased expression:gingival crevicular fluid PMID:21796505|REF_RGD_ID:10450515 12000872 IL1B interleukin 1 beta gene DOID:824 periodontitis ISO RGD:730981 D RGD:9068941 20200609 RGD mRNA:increased expression:gingiva PMID:22795294|REF_RGD_ID:6906881 12000872 IL1B interleukin 1 beta gene DOID:824 periodontitis treatment ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:27795360|REF_RGD_ID:14975132 12000872 IL1B interleukin 1 beta gene DOID:824 periodontitis treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:24586097|REF_RGD_ID:10450598 12000872 IL1B interleukin 1 beta gene DOID:8398 osteoarthritis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21954917 12000872 IL1B interleukin 1 beta gene DOID:8398 osteoarthritis treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22890185|REF_RGD_ID:7207218 12000872 IL1B interleukin 1 beta gene DOID:841 extrinsic allergic alveolitis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:1519663|REF_RGD_ID:7401229 12000872 IL1B interleukin 1 beta gene DOID:841 extrinsic allergic alveolitis disease_progression ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19556641|REF_RGD_ID:4142842 12000872 IL1B interleukin 1 beta gene DOID:850 lung disease ISO RGD:10790 D RGD:9068941 20200609 RGD associated with Hyperoxia;mRNA, protein:increased expression:lung PMID:9641262|REF_RGD_ID:4143189 12000872 IL1B interleukin 1 beta gene DOID:850 lung disease ISO RGD:10790 D RGD:9068941 20200609 RGD associated with Reperfusion Injury;protein:increased expression:lung PMID:19941004|REF_RGD_ID:4142814 12000872 IL1B interleukin 1 beta gene DOID:850 lung disease ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Endotoxemia;protein:increased expression:lung PMID:19843795|REF_RGD_ID:4142819 12000872 IL1B interleukin 1 beta gene DOID:850 lung disease ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Pancreatitis;protein:increased expression:serum PMID:19926967|REF_RGD_ID:4142815 12000872 IL1B interleukin 1 beta gene DOID:850 lung disease ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Shock, Hemorrhagic PMID:20041965|REF_RGD_ID:4142810 12000872 IL1B interleukin 1 beta gene DOID:850 lung disease susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;DNA:SNP: :3962C>T (human) PMID:17584583|REF_RGD_ID:4142870 12000872 IL1B interleukin 1 beta gene DOID:8552 chronic myeloid leukemia severity ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:7949186|REF_RGD_ID:10450889 12000872 IL1B interleukin 1 beta gene DOID:8577 ulcerative colitis ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:24812904|REF_RGD_ID:10450593 12000872 IL1B interleukin 1 beta gene DOID:8577 ulcerative colitis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12133438|PMID:15955209|PMID:20452301|PMID:22119283 12000872 IL1B interleukin 1 beta gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23158403|REF_RGD_ID:7175550 12000872 IL1B interleukin 1 beta gene DOID:869 cholesteatoma ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:1384343|PMID:8725537|REF_RGD_ID:7401205|REF_RGD_ID:7401208 12000872 IL1B interleukin 1 beta gene DOID:8725 vascular dementia ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16600299|REF_RGD_ID:1626633 12000872 IL1B interleukin 1 beta gene DOID:874 bacterial pneumonia ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:18596024|REF_RGD_ID:4143205 12000872 IL1B interleukin 1 beta gene DOID:874 bacterial pneumonia severity ISO RGD:10790 D RGD:9068941 20200820 RGD PMID:25398094|REF_RGD_ID:38501102 12000872 IL1B interleukin 1 beta gene DOID:874 bacterial pneumonia treatment ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Agranulocytosis PMID:7546648|REF_RGD_ID:10755357 12000872 IL1B interleukin 1 beta gene DOID:8893 psoriasis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7744320 12000872 IL1B interleukin 1 beta gene DOID:8927 learning disability ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21290410 12000872 IL1B interleukin 1 beta gene DOID:8929 atrophic gastritis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19448967 12000872 IL1B interleukin 1 beta gene DOID:8947 diabetic retinopathy ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; protein:decreased tyrosine phosphorylation:vitreous humor PMID:18978347|REF_RGD_ID:2307061 12000872 IL1B interleukin 1 beta gene DOID:8947 diabetic retinopathy ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:serum, vitreous humour PMID:16284605|REF_RGD_ID:7401212 12000872 IL1B interleukin 1 beta gene DOID:8991 cervix uteri carcinoma in situ susceptibility ISO RGD:730981 D RGD:9068941 20200724 RGD associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human) PMID:25893807|REF_RGD_ID:36174015 12000872 IL1B interleukin 1 beta gene DOID:9000011 Gallbladder Neoplasms susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Cholelithiasis;DNA:polymorphism:promoter:-511C>T (human) PMID:18940468|REF_RGD_ID:2317216 12000872 IL1B interleukin 1 beta gene DOID:9000039 Spinal Cord Injuries ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23209732|REF_RGD_ID:7175523 12000872 IL1B interleukin 1 beta gene DOID:9000039 Spinal Cord Injuries ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord PMID:16038625|REF_RGD_ID:1626673 12000872 IL1B interleukin 1 beta gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:29691718|REF_RGD_ID:14975124 12000872 IL1B interleukin 1 beta gene DOID:9000099 Experimental Colitis treatment ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:31175857|REF_RGD_ID:14975282 12000872 IL1B interleukin 1 beta gene DOID:9000169 Systemic Inflammatory Response Syndrome ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:22253906|REF_RGD_ID:7175262 12000872 IL1B interleukin 1 beta gene DOID:9000173 Eye Burns ISO RGD:10790 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:9618720|REF_RGD_ID:7794723 12000872 IL1B interleukin 1 beta gene DOID:9000197 Edema treatment ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Inflammation PMID:2611121|REF_RGD_ID:7401193 12000872 IL1B interleukin 1 beta gene DOID:9000217 Stomach Neoplasms ISO RGD:730981 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:15492468|PMID:19584167|PMID:22414649 12000872 IL1B interleukin 1 beta gene DOID:9000304 Manganese Poisoning ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18041089 12000872 IL1B interleukin 1 beta gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22467534 12000872 IL1B interleukin 1 beta gene DOID:9000412 Presenile and Senile Dementia ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23126199|REF_RGD_ID:7193138 12000872 IL1B interleukin 1 beta gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27157545 12000872 IL1B interleukin 1 beta gene DOID:9000528 Coronary Disease ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15379752|REF_RGD_ID:1626636 12000872 IL1B interleukin 1 beta gene DOID:9000540 HIV Wasting Syndrome ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 12000872 IL1B interleukin 1 beta gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:14754758|REF_RGD_ID:4143217 12000872 IL1B interleukin 1 beta gene DOID:9000784 Fibrosis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25388157 12000872 IL1B interleukin 1 beta gene DOID:9000808 Hypercholesterolemia ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17330503|REF_RGD_ID:1626623 12000872 IL1B interleukin 1 beta gene DOID:9000855 Experimental Radiation Injuries ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11121210 12000872 IL1B interleukin 1 beta gene DOID:9000918 Disease Progression ISO RGD:730981 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 12000872 IL1B interleukin 1 beta gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:10790 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20574227|REF_RGD_ID:4142534 12000872 IL1B interleukin 1 beta gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22007788|REF_RGD_ID:6482672 12000872 IL1B interleukin 1 beta gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20452617|REF_RGD_ID:4142537 12000872 IL1B interleukin 1 beta gene DOID:9000972 Fever ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:hypothalamus PMID:16455768|REF_RGD_ID:1626671 12000872 IL1B interleukin 1 beta gene DOID:9000972 Fever ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11852909|PMID:15384034|PMID:22143887|PMID:25164664|PMID:9952427 12000872 IL1B interleukin 1 beta gene DOID:9000998 Brain Injuries ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:17612572|REF_RGD_ID:1626652 12000872 IL1B interleukin 1 beta gene DOID:9000998 Brain Injuries ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex PMID:16024175|REF_RGD_ID:2311098 12000872 IL1B interleukin 1 beta gene DOID:9000998 Brain Injuries ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:brain, cerebrospinal fluid PMID:22503903|REF_RGD_ID:6482651 12000872 IL1B interleukin 1 beta gene DOID:9000998 Brain Injuries ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19800810|PMID:21549006 12000872 IL1B interleukin 1 beta gene DOID:9001039 Leukocytosis ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:19633061|REF_RGD_ID:4142837 12000872 IL1B interleukin 1 beta gene DOID:9001039 Leukocytosis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1884014 12000872 IL1B interleukin 1 beta gene DOID:9001039 Leukocytosis ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:1581467|REF_RGD_ID:10450884 12000872 IL1B interleukin 1 beta gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:1323256 D RGD:9068941 20200609 RGD PMID:20065029|REF_RGD_ID:4142828 12000872 IL1B interleukin 1 beta gene DOID:9001109 Anorexia ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus PMID:22902858|REF_RGD_ID:13825124 12000872 IL1B interleukin 1 beta gene DOID:9001109 Anorexia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12077204|PMID:25392278 12000872 IL1B interleukin 1 beta gene DOID:9001142 Drug-Induced Agranulocytosis treatment ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Glioblastoma; PMID:1331350|REF_RGD_ID:10450883 12000872 IL1B interleukin 1 beta gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2891 D RGD:9068941 20200609 RGD tibial and peroneal nerves PMID:23121415|REF_RGD_ID:7204126 12000872 IL1B interleukin 1 beta gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:23009062|REF_RGD_ID:7204488 12000872 IL1B interleukin 1 beta gene DOID:9001488 Human Influenza ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:20438620|REF_RGD_ID:4142822 12000872 IL1B interleukin 1 beta gene DOID:9001542 Albuminuria ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:23103566|REF_RGD_ID:7175089 12000872 IL1B interleukin 1 beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16085334 12000872 IL1B interleukin 1 beta gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:24383550|REF_RGD_ID:10450610 12000872 IL1B interleukin 1 beta gene DOID:9001708 Hemorrhagic Shock ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15580020|PMID:17545943|REF_RGD_ID:1626655|REF_RGD_ID:2311100 12000872 IL1B interleukin 1 beta gene DOID:9001708 Hemorrhagic Shock severity ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:kidney, serum (rat) PMID:21336199|REF_RGD_ID:7175325 12000872 IL1B interleukin 1 beta gene DOID:9001725 Retina Reperfusion Injury ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:7890488|REF_RGD_ID:7401191 12000872 IL1B interleukin 1 beta gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Cholestasis PMID:21468628|REF_RGD_ID:7175318 12000872 IL1B interleukin 1 beta gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:10790 D RGD:9068941 20220930 RGD PMID:32155285|REF_RGD_ID:155260323 12000872 IL1B interleukin 1 beta gene DOID:9002165 Diabetic Nephropathies ISO RGD:10790 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:22086159|REF_RGD_ID:7175266 12000872 IL1B interleukin 1 beta gene DOID:9002165 Diabetic Nephropathies ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19769609|REF_RGD_ID:7175519 12000872 IL1B interleukin 1 beta gene DOID:9002211 Hyperalgesia ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:15317861|PMID:22265659|REF_RGD_ID:1626676|REF_RGD_ID:6482671 12000872 IL1B interleukin 1 beta gene DOID:9002211 Hyperalgesia ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Peripheral Nerve Injuries PMID:23159984|REF_RGD_ID:7175548 12000872 IL1B interleukin 1 beta gene DOID:9002211 Hyperalgesia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10401557|PMID:12727271|PMID:17320857|PMID:20937348|PMID:27093858|PMID:7582491 12000872 IL1B interleukin 1 beta gene DOID:9002211 Hyperalgesia ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:8741165|REF_RGD_ID:7401209 12000872 IL1B interleukin 1 beta gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-511C>T (human) PMID:18271063|REF_RGD_ID:11051967 12000872 IL1B interleukin 1 beta gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:730981 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:10870116|REF_RGD_ID:11522755 12000872 IL1B interleukin 1 beta gene DOID:9002371 Cardiotoxicity ISO RGD:730981 D RGD:9068941 20200910 CTD CTD Direct Evidence: marker/mechanism PMID:32068018 12000872 IL1B interleukin 1 beta gene DOID:9002457 Experimental Arthritis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:21557995|REF_RGD_ID:7175317 12000872 IL1B interleukin 1 beta gene DOID:9002457 Experimental Arthritis ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:23140046|REF_RGD_ID:7193038 12000872 IL1B interleukin 1 beta gene DOID:9002457 Experimental Arthritis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19330884|PMID:20131233|PMID:20974942|PMID:22450443 12000872 IL1B interleukin 1 beta gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:24028507|PMID:29408684|REF_RGD_ID:10755447|REF_RGD_ID:13792834 12000872 IL1B interleukin 1 beta gene DOID:9002503 Neutropenic Enterocolitis ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:small intestine (rat) PMID:23228325|REF_RGD_ID:7204427 12000872 IL1B interleukin 1 beta gene DOID:9002676 Cerebral Hemorrhage ameliorates ISO RGD:2891 D RGD:9068941 20230504 RGD PMID:31376096|REF_RGD_ID:329337378 12000872 IL1B interleukin 1 beta gene DOID:9002775 Cognitive Dysfunction ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:23251531|REF_RGD_ID:7204493 12000872 IL1B interleukin 1 beta gene DOID:9002775 Cognitive Dysfunction ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23251531|REF_RGD_ID:7204493 12000872 IL1B interleukin 1 beta gene DOID:9002805 Enterocolitis ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA:increased expression:cecum (rat) PMID:8144001|REF_RGD_ID:2311103 12000872 IL1B interleukin 1 beta gene DOID:9002906 Multiple Organ Failure ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:21323892|REF_RGD_ID:7175326 12000872 IL1B interleukin 1 beta gene DOID:9002906 Multiple Organ Failure ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Heat Stroke PMID:21392091|REF_RGD_ID:7175322 12000872 IL1B interleukin 1 beta gene DOID:9002928 Colonic Neoplasms ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925|PMID:18987561|PMID:19028472 12000872 IL1B interleukin 1 beta gene DOID:9003219 Invasive Pulmonary Aspergillosis ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype: :-511C>T (human) PMID:18484169|REF_RGD_ID:4142867 12000872 IL1B interleukin 1 beta gene DOID:9003281 Spontaneous Abortions ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12000872 IL1B interleukin 1 beta gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:brain (rat) PMID:23110519|REF_RGD_ID:7204438 12000872 IL1B interleukin 1 beta gene DOID:9003730 Chemical Burns ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 12000872 IL1B interleukin 1 beta gene DOID:9003871 Venous Thrombosis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:17651586|REF_RGD_ID:2311092 12000872 IL1B interleukin 1 beta gene DOID:9003936 Cardiomegaly ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart PMID:15542404|REF_RGD_ID:1581939 12000872 IL1B interleukin 1 beta gene DOID:9003936 Cardiomegaly ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15302781 12000872 IL1B interleukin 1 beta gene DOID:9004009 Reperfusion Injury ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10594344|PMID:12468449|PMID:15829914|PMID:19058328|PMID:19673871 12000872 IL1B interleukin 1 beta gene DOID:9004086 AIDS Dementia Complex ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:neocortex PMID:17678975|REF_RGD_ID:1626641 12000872 IL1B interleukin 1 beta gene DOID:9004118 Experimental Melanoma ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:1966551|REF_RGD_ID:7401226 12000872 IL1B interleukin 1 beta gene DOID:9004283 Transplant Rejection ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:snp:intron:g.3962C>T (human) PMID:22663993|REF_RGD_ID:7175098 12000872 IL1B interleukin 1 beta gene DOID:9004283 Transplant Rejection severity ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:8094579|REF_RGD_ID:7401188 12000872 IL1B interleukin 1 beta gene DOID:9004484 Sepsis ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17529909|REF_RGD_ID:1626657 12000872 IL1B interleukin 1 beta gene DOID:9004484 Sepsis ISO RGD:730981 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:32062619 12000872 IL1B interleukin 1 beta gene DOID:9004484 Sepsis treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:21429520|REF_RGD_ID:7175319 12000872 IL1B interleukin 1 beta gene DOID:9004547 Thyroid Neoplasms ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 12000872 IL1B interleukin 1 beta gene DOID:9004575 Neoplasm Invasiveness ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27567548 12000872 IL1B interleukin 1 beta gene DOID:9004593 Drug-Induced Immune Thrombocytopenia treatment ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Glioblastoma; PMID:1331350|REF_RGD_ID:10450883 12000872 IL1B interleukin 1 beta gene DOID:9004610 Acute Lung Injury ISO RGD:10790 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20153312|REF_RGD_ID:4142807 12000872 IL1B interleukin 1 beta gene DOID:9004610 Acute Lung Injury ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22982561|REF_RGD_ID:7204498 12000872 IL1B interleukin 1 beta gene DOID:9004610 Acute Lung Injury ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:21767135|REF_RGD_ID:6480432 12000872 IL1B interleukin 1 beta gene DOID:9004610 Acute Lung Injury ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:8613550|REF_RGD_ID:4143193 12000872 IL1B interleukin 1 beta gene DOID:9004610 Acute Lung Injury ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20663306|REF_RGD_ID:4142531 12000872 IL1B interleukin 1 beta gene DOID:9004610 Acute Lung Injury ISO RGD:730981 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:32062619 12000872 IL1B interleukin 1 beta gene DOID:9004649 Heat Stroke ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 12000872 IL1B interleukin 1 beta gene DOID:9004649 Heat Stroke treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:10970434|REF_RGD_ID:12902613 12000872 IL1B interleukin 1 beta gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9032749 12000872 IL1B interleukin 1 beta gene DOID:9004932 Eales Disease ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:19585364|REF_RGD_ID:7401211 12000872 IL1B interleukin 1 beta gene DOID:9005172 Lung Neoplasms ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22369883|PMID:28212736 12000872 IL1B interleukin 1 beta gene DOID:9005372 Inflammation ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Anoxia PMID:22994521|REF_RGD_ID:7204492 12000872 IL1B interleukin 1 beta gene DOID:9005372 Inflammation ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Cholestasis;mRNA:increased expression:liver PMID:17676395|REF_RGD_ID:1626645 12000872 IL1B interleukin 1 beta gene DOID:9005372 Inflammation ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Hypersensitivity, Delayed;protein:increased expression:brain, plasma PMID:15050649|REF_RGD_ID:1626679 12000872 IL1B interleukin 1 beta gene DOID:9005372 Inflammation ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181422|PMID:16227999|PMID:21437948|PMID:21467745|PMID:22001142|PMID:23640035|PMID:24609059|PMID:28212736|PMID:9952427 12000872 IL1B interleukin 1 beta gene DOID:9005372 Inflammation treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:25706245|PMID:26069367|REF_RGD_ID:11059519|REF_RGD_ID:11059520 12000872 IL1B interleukin 1 beta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23197974|REF_RGD_ID:7175529 12000872 IL1B interleukin 1 beta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:17669395|REF_RGD_ID:1626620 12000872 IL1B interleukin 1 beta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12123627 12000872 IL1B interleukin 1 beta gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22094062|REF_RGD_ID:7175334 12000872 IL1B interleukin 1 beta gene DOID:9005729 Chronic Experimental Pancreatitis ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:22173919|REF_RGD_ID:10044253 12000872 IL1B interleukin 1 beta gene DOID:9005749 Necrosis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10631206|PMID:10903806|PMID:10909967 12000872 IL1B interleukin 1 beta gene DOID:9005930 Endotoxemia ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17201737|REF_RGD_ID:1626625 12000872 IL1B interleukin 1 beta gene DOID:9005941 Rhinosinusitis ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity epithelium PMID:11197112|REF_RGD_ID:7401169 12000872 IL1B interleukin 1 beta gene DOID:9006024 Hypotension ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15384034|PMID:1884014 12000872 IL1B interleukin 1 beta gene DOID:9006205 Animal Disease Models ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12000872 IL1B interleukin 1 beta gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:20030532|REF_RGD_ID:7175501 12000872 IL1B interleukin 1 beta gene DOID:9006358 Postoperative Cognitive Dysfunction ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22959208|REF_RGD_ID:7204702 12000872 IL1B interleukin 1 beta gene DOID:9006388 Vulvar Vestibulitis ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:9015038|REF_RGD_ID:7394738 12000872 IL1B interleukin 1 beta gene DOID:9006554 Pancreatic Cyst disease_progression ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:21266527|REF_RGD_ID:7794719 12000872 IL1B interleukin 1 beta gene DOID:9006647 Experimental Autoimmune Neuritis treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:18400050|REF_RGD_ID:7401218 12000872 IL1B interleukin 1 beta gene DOID:9006827 Lung Reperfusion Injury ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23142117|REF_RGD_ID:7183185 12000872 IL1B interleukin 1 beta gene DOID:9006827 Lung Reperfusion Injury ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:23122581|REF_RGD_ID:7204125 12000872 IL1B interleukin 1 beta gene DOID:9006827 Lung Reperfusion Injury ameliorates ISO RGD:10790 D RGD:9068941 20220915 RGD PMID:34238924|REF_RGD_ID:153350155 12000872 IL1B interleukin 1 beta gene DOID:9006939 Lyme Neuroborreliosis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23134838|REF_RGD_ID:7193053 12000872 IL1B interleukin 1 beta gene DOID:9006966 Pseudomonas Aeruginosa Keratitis ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:11895986|REF_RGD_ID:7401195 12000872 IL1B interleukin 1 beta gene DOID:9007096 Stroke ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10950380 12000872 IL1B interleukin 1 beta gene DOID:9007102 Myocardial Ischemia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12000872 IL1B interleukin 1 beta gene DOID:9007334 Small-For-Size Syndrome treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22955229|REF_RGD_ID:8655911 12000872 IL1B interleukin 1 beta gene DOID:9007346 Cachexia ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Inflammation PMID:15005009|REF_RGD_ID:1626680 12000872 IL1B interleukin 1 beta gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23102243|REF_RGD_ID:7204421 12000872 IL1B interleukin 1 beta gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19164858|PMID:28138970 12000872 IL1B interleukin 1 beta gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:29091898|PMID:31077717|REF_RGD_ID:14975281|REF_RGD_ID:15090820 12000872 IL1B interleukin 1 beta gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:29091898|PMID:29278859|PMID:31342809|REF_RGD_ID:13793380|REF_RGD_ID:15036799|REF_RGD_ID:15090820 12000872 IL1B interleukin 1 beta gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:7486912|REF_RGD_ID:7401204 12000872 IL1B interleukin 1 beta gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Agranulocytosis PMID:7923933|REF_RGD_ID:10450534 12000872 IL1B interleukin 1 beta gene DOID:9007588 Heart Injuries ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:17719662|REF_RGD_ID:7401227 12000872 IL1B interleukin 1 beta gene DOID:9007588 Heart Injuries ameliorates ISO RGD:10790 D RGD:9068941 20230330 RGD associated with obesity PMID:32084395|REF_RGD_ID:242905211 12000872 IL1B interleukin 1 beta gene DOID:9007692 Insulin Resistance ISO RGD:10790 D RGD:9068941 20200609 RGD associated with Obesity;mRNA:increased expression:adipose tissue PMID:16865359|REF_RGD_ID:1626632 12000872 IL1B interleukin 1 beta gene DOID:9007692 Insulin Resistance treatment ISO RGD:2891 D RGD:9068941 20200609 RGD associated with hypothalamic disease PMID:29522769|REF_RGD_ID:13792596 12000872 IL1B interleukin 1 beta gene DOID:9007730 Burns ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18277951 12000872 IL1B interleukin 1 beta gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-511C>T (rs 16944) (human) PMID:23461376|REF_RGD_ID:11051970 12000872 IL1B interleukin 1 beta gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:17134725|REF_RGD_ID:1626628 12000872 IL1B interleukin 1 beta gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2891 D RGD:9068941 20220929 RGD PMID:31583047|REF_RGD_ID:155230831 12000872 IL1B interleukin 1 beta gene DOID:9007956 Febrile Seizures ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:16393156|REF_RGD_ID:1626672 12000872 IL1B interleukin 1 beta gene DOID:9007964 Arsenic Poisoning ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12000872 IL1B interleukin 1 beta gene DOID:9008023 Memory Disorders ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21290410 12000872 IL1B interleukin 1 beta gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:10790 D RGD:9068941 20200828 RGD mRNA:altered expression:gastric antrum (mouse) PMID:29085807|REF_RGD_ID:38549349 12000872 IL1B interleukin 1 beta gene DOID:9008617 Lethargy ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22143887 12000872 IL1B interleukin 1 beta gene DOID:9008821 Otitis Media with Effusion ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:18568516|REF_RGD_ID:7394746 12000872 IL1B interleukin 1 beta gene DOID:9008821 Otitis Media with Effusion ISO RGD:8999086 D RGD:9068941 20200609 RGD PMID:8302123|REF_RGD_ID:11554174 12000872 IL1B interleukin 1 beta gene DOID:9008865 Entamoebiasis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16374615 12000872 IL1B interleukin 1 beta gene DOID:9008939 Breast Neoplasms ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037|PMID:17516992|PMID:28212736 12000872 IL1B interleukin 1 beta gene DOID:9008945 Gram-Negative Bacterial Infections ISO RGD:10790 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:20308302|REF_RGD_ID:4142825 12000872 IL1B interleukin 1 beta gene DOID:9009039 Hyperemia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8846404 12000872 IL1B interleukin 1 beta gene DOID:9074 systemic lupus erythematosus ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:-511C>T, 3953C>T (human) PMID:15470475|REF_RGD_ID:7401214 12000872 IL1B interleukin 1 beta gene DOID:9074 systemic lupus erythematosus ISO RGD:730981 D RGD:9068941 20221117 RGD mRNA:increased expression:kidney (human) PMID:22660635|REF_RGD_ID:155663483 12000872 IL1B interleukin 1 beta gene DOID:9111 cutaneous leishmaniasis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20102417 12000872 IL1B interleukin 1 beta gene DOID:9146 visceral leishmaniasis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17404324 12000872 IL1B interleukin 1 beta gene DOID:9279 hyperhomocysteinemia ISO RGD:10790 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus (mouse) PMID:22647887|REF_RGD_ID:7175168 12000872 IL1B interleukin 1 beta gene DOID:9352 type 2 diabetes mellitus ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:28843383|REF_RGD_ID:14975146 12000872 IL1B interleukin 1 beta gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:snp:exon:g.3968C>T rs1143634 (human) PMID:21205020|REF_RGD_ID:7175255 12000872 IL1B interleukin 1 beta gene DOID:9362 status asthmaticus ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:9927362|REF_RGD_ID:4143184 12000872 IL1B interleukin 1 beta gene DOID:9402 epididymitis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:29311626|REF_RGD_ID:13792835 12000872 IL1B interleukin 1 beta gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:2891 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 12000872 IL1B interleukin 1 beta gene DOID:9452 fatty liver disease ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17436085|REF_RGD_ID:1626661 12000872 IL1B interleukin 1 beta gene DOID:9538 multiple myeloma ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon:-511C>T, 3954T>C (human) PMID:17926179|REF_RGD_ID:11051973 12000872 IL1B interleukin 1 beta gene DOID:9563 bronchiectasis ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:10515411|REF_RGD_ID:4143181 12000872 IL1B interleukin 1 beta gene DOID:9588 encephalitis ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:brain (rat) PMID:16006567|REF_RGD_ID:5147676 12000872 IL1B interleukin 1 beta gene DOID:9743 diabetic neuropathy treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23280817|REF_RGD_ID:7401217 12000872 IL1B interleukin 1 beta gene DOID:9744 type 1 diabetes mellitus ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:1797022|REF_RGD_ID:7401233 12000872 IL1B interleukin 1 beta gene DOID:9744 type 1 diabetes mellitus ISO RGD:730981 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood, leukocyte (human) PMID:21848584|REF_RGD_ID:7175335 12000872 IL1B interleukin 1 beta gene DOID:9970 obesity ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:16567518|REF_RGD_ID:1626637 12000872 IL1B interleukin 1 beta gene DOID:9970 obesity ISO RGD:10790 D RGD:9068941 20200609 RGD protein:increased expression:plasma (mouse) PMID:23150506|REF_RGD_ID:7175086 12000872 IL1B interleukin 1 beta gene DOID:9970 obesity ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:20490358|REF_RGD_ID:7175343 12000872 IL1B interleukin 1 beta gene DOID:9970 obesity ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:28843383|REF_RGD_ID:14975146 12000872 IL1B interleukin 1 beta gene DOID:9970 obesity treatment ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:24146106|REF_RGD_ID:10450599 12000872 IL1B interleukin 1 beta gene DOID:9993 hypoglycemia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1884014 12000883 CTNS cystinosin, lysosomal cystine transporter gene DOID:1062 Fanconi syndrome ISO RGD:1308466 D RGD:9068941 20230223 RGD PMID:35695380|REF_RGD_ID:155630629 12000883 CTNS cystinosin, lysosomal cystine transporter gene DOID:1064 cystinosis ISO RGD:1318250 D RGD:7240710 20180130 OMIM 12000883 CTNS cystinosin, lysosomal cystine transporter gene DOID:1064 cystinosis ISO RGD:1318250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cystinoses | ClinVar Annotator: match by term: Cystinosin, defect of | ClinVar Annotator: match by term: Cystinosis | ClinVar Annotator: match by term: Cystinosis, atypical nephropathic | ClinVar Annotator: match by term: Lysosomal cystine transport protein, defect of | ClinVar Annotator: match by term: Nephropathic cystinosis PMID:10444339|PMID:10482956|PMID:10556299|PMID:10571941|PMID:10625078|PMID:10673275|PMID:11505338|PMID:11562417|PMID:11565547|PMID:11689434|PMID:11708862|PMID:11855931|PMID:12110740|PMID:12204010|PMID:12442267|PMID:12644911|PMID:12825071|PMID:15128704|PMID:15365816|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18186520|PMID:18752449|PMID:19580442|PMID:19852576|PMID:19863563|PMID:20061170|PMID:20301574|PMID:21305353|PMID:21546516|PMID:21786142|PMID:21963264|PMID:22232659|PMID:22450360|PMID:22528245|PMID:22664570|PMID:23640116|PMID:24033266|PMID:24123366|PMID:24385851|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:26489029|PMID:26565940|PMID:27102039|PMID:27451386|PMID:27533158|PMID:27625850|PMID:27734949|PMID:27858370|PMID:28122645|PMID:28238446|PMID:28276207|PMID:28405942|PMID:28465352|PMID:28492532|PMID:28629674|PMID:28649545|PMID:28793998|PMID:28893421|PMID:28983406|PMID:29127259|PMID:29421779|PMID:29467429|PMID:30554218|PMID:30609409|PMID:30949462|PMID:30957593|PMID:31074291|PMID:31672123|PMID:33532864|PMID:33661986|PMID:33822926|PMID:35738466|PMID:9536098|PMID:9537412|PMID:9792862 12000883 CTNS cystinosin, lysosomal cystine transporter gene DOID:1064 cystinosis susceptibility ISO RGD:1318250 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:9537412|REF_RGD_ID:1601022 12000883 CTNS cystinosin, lysosomal cystine transporter gene DOID:1064 cystinosis treatment ISO RGD:1318250 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:18578013|REF_RGD_ID:12910866 12000883 CTNS cystinosin, lysosomal cystine transporter gene DOID:1184 nephrotic syndrome ISO RGD:1318250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:10556299|PMID:19580442|PMID:24464559|PMID:29127259 12000883 CTNS cystinosin, lysosomal cystine transporter gene DOID:3613 Canavan disease ISO RGD:1318250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 12000883 CTNS cystinosin, lysosomal cystine transporter gene DOID:630 genetic disease ISO RGD:1318250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10444339|PMID:10482956|PMID:10556299|PMID:10571941|PMID:10625078|PMID:10673275|PMID:10909858|PMID:11505338|PMID:11562417|PMID:11565547|PMID:11689434|PMID:11708862|PMID:11855931|PMID:12204010|PMID:12442267|PMID:12644911|PMID:12825071|PMID:15128704|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18186520|PMID:18752449|PMID:19852576|PMID:19863563|PMID:20061170|PMID:20301574|PMID:20352457|PMID:21305353|PMID:21546516|PMID:21786142|PMID:22232659|PMID:22450360|PMID:22528245|PMID:22664570|PMID:23640116|PMID:24033266|PMID:24123366|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:26489029|PMID:26565940|PMID:27102039|PMID:27533158|PMID:27625850|PMID:27734949|PMID:27858370|PMID:28122645|PMID:28238446|PMID:28276207|PMID:28405942|PMID:28465352|PMID:28492532|PMID:28629674|PMID:28649545|PMID:28793998|PMID:28893421|PMID:28983406|PMID:29467429|PMID:30554218|PMID:30849045|PMID:30949462|PMID:30957593|PMID:31074291|PMID:31672123|PMID:33532864|PMID:33661986|PMID:35738466|PMID:7668285|PMID:9536098|PMID:9537412|PMID:9792862 12000883 CTNS cystinosin, lysosomal cystine transporter gene DOID:9002476 Infantile Nephropathic Cystinosis ISO RGD:1318250 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Infantile nephropathic cystinosis PMID:10556299|PMID:11562417|PMID:12204010|PMID:12442267|PMID:19863563|PMID:21786142|PMID:22450360|PMID:25326109|PMID:25741868|PMID:27102039|PMID:28276207|PMID:28492532|PMID:33532864|PMID:35738466|PMID:9537412|PMID:9792862 12000883 CTNS cystinosin, lysosomal cystine transporter gene DOID:9002525 Hereditary Eye Diseases treatment ISO RGD:1318250 D RGD:9068941 20200609 RGD associated with Cystinosis;human gene in a mouse model PMID:26540660|REF_RGD_ID:11354731 12000883 CTNS cystinosin, lysosomal cystine transporter gene DOID:9002714 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type ISO RGD:1318250 D RGD:7240710 20180130 OMIM 12000883 CTNS cystinosin, lysosomal cystine transporter gene DOID:9002714 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type ISO RGD:1318250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE PMID:10444339|PMID:10482956|PMID:10556299|PMID:10571941|PMID:10625078|PMID:10673275|PMID:10909858|PMID:11505338|PMID:11562417|PMID:11565547|PMID:11689434|PMID:11708862|PMID:11855931|PMID:12110740|PMID:12204010|PMID:12442267|PMID:12644911|PMID:12825071|PMID:15128704|PMID:15365816|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18186520|PMID:18752449|PMID:19852576|PMID:19863563|PMID:20061170|PMID:20301574|PMID:20352457|PMID:21305353|PMID:21546516|PMID:21786142|PMID:22232659|PMID:22450360|PMID:22528245|PMID:22664570|PMID:23640116|PMID:24033266|PMID:24123366|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:26489029|PMID:26565940|PMID:27102039|PMID:27533158|PMID:27625850|PMID:27734949|PMID:27858370|PMID:28122645|PMID:28238446|PMID:28276207|PMID:28405942|PMID:28465352|PMID:28492532|PMID:28629674|PMID:28649545|PMID:28793998|PMID:28893421|PMID:28983406|PMID:29467429|PMID:30554218|PMID:30849045|PMID:30949462|PMID:30957593|PMID:31074291|PMID:31672123|PMID:33532864|PMID:33661986|PMID:33822926|PMID:35738466|PMID:7668285|PMID:9536098|PMID:9537412|PMID:9792862 12000883 CTNS cystinosin, lysosomal cystine transporter gene DOID:9004409 Abderhalden-Kaufmann-Lignac Syndrome ISO RGD:1318250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Abderhalden Lignac Kaufmann disease | ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome PMID:10482956|PMID:10556299|PMID:10571941|PMID:10625078|PMID:10673275|PMID:11505338|PMID:11562417|PMID:11565547|PMID:11689434|PMID:11708862|PMID:11855931|PMID:12110740|PMID:12204010|PMID:12442267|PMID:12644911|PMID:12825071|PMID:15128704|PMID:15365816|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18186520|PMID:18752449|PMID:19852576|PMID:19863563|PMID:20061170|PMID:20301574|PMID:21305353|PMID:21546516|PMID:21786142|PMID:22232659|PMID:22450360|PMID:22528245|PMID:22664570|PMID:23640116|PMID:24033266|PMID:24123366|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:26489029|PMID:26565940|PMID:27102039|PMID:27533158|PMID:27625850|PMID:27734949|PMID:27858370|PMID:28122645|PMID:28238446|PMID:28276207|PMID:28405942|PMID:28492532|PMID:28629674|PMID:28649545|PMID:28793998|PMID:28893421|PMID:28983406|PMID:29467429|PMID:30554218|PMID:30957593|PMID:31074291|PMID:31672123|PMID:33532864|PMID:33822926|PMID:35738466|PMID:9536098|PMID:9537412|PMID:9792862 12000883 CTNS cystinosin, lysosomal cystine transporter gene DOID:9007952 Cystinosis, Ocular Nonnephropathic ISO RGD:1318250 D RGD:7240710 20180130 OMIM 12000883 CTNS cystinosin, lysosomal cystine transporter gene DOID:9007952 Cystinosis, Ocular Nonnephropathic ISO RGD:1318250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystinosis, adult, nonnephropathic | ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic PMID:10444339|PMID:10482956|PMID:10556299|PMID:10571941|PMID:10625078|PMID:10673275|PMID:10909858|PMID:11505338|PMID:11562417|PMID:11565547|PMID:11689434|PMID:11708862|PMID:11855931|PMID:12110740|PMID:12204010|PMID:12442267|PMID:12825071|PMID:15128704|PMID:15365816|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18186520|PMID:18752449|PMID:19852576|PMID:19863563|PMID:20061170|PMID:21305353|PMID:21546516|PMID:21786142|PMID:22232659|PMID:22450360|PMID:22528245|PMID:22664570|PMID:23640116|PMID:24033266|PMID:24123366|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:26489029|PMID:26565940|PMID:27102039|PMID:27533158|PMID:27625850|PMID:27734949|PMID:27858370|PMID:28122645|PMID:28238446|PMID:28276207|PMID:28405942|PMID:28465352|PMID:28492532|PMID:28629674|PMID:28649545|PMID:28793998|PMID:28893421|PMID:28983406|PMID:29467429|PMID:30554218|PMID:30849045|PMID:30949462|PMID:30957593|PMID:31074291|PMID:33532864|PMID:33822926|PMID:7668285|PMID:9536098|PMID:9537412|PMID:9792862 12000883 CTNS cystinosin, lysosomal cystine transporter gene DOID:9007952 Cystinosis, Ocular Nonnephropathic ISO RGD:1318250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cystinosis, adult, nonnephropathic | ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic | ClinVar Annotator: match by term: Cystinosis, ocular nonnephropathic PMID:10444339|PMID:10482956|PMID:10556299|PMID:10571941|PMID:10625078|PMID:10673275|PMID:10909858|PMID:11505338|PMID:11562417|PMID:11565547|PMID:11689434|PMID:11708862|PMID:11855931|PMID:12110740|PMID:12204010|PMID:12442267|PMID:12644911|PMID:12825071|PMID:15128704|PMID:15365816|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18186520|PMID:18752449|PMID:19852576|PMID:19863563|PMID:20061170|PMID:20301574|PMID:20352457|PMID:21305353|PMID:21546516|PMID:21786142|PMID:22232659|PMID:22450360|PMID:22528245|PMID:22664570|PMID:23640116|PMID:24033266|PMID:24123366|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:26489029|PMID:26565940|PMID:27102039|PMID:27533158|PMID:27625850|PMID:27734949|PMID:27858370|PMID:28122645|PMID:28238446|PMID:28276207|PMID:28405942|PMID:28465352|PMID:28492532|PMID:28629674|PMID:28649545|PMID:28793998|PMID:28893421|PMID:28983406|PMID:29467429|PMID:30554218|PMID:30849045|PMID:30949462|PMID:30957593|PMID:31074291|PMID:31672123|PMID:33532864|PMID:33661986|PMID:33822926|PMID:35738466|PMID:7668285|PMID:9536098|PMID:9537412|PMID:9792862 12000908 SSH2 slingshot protein phosphatase 2 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1319710 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 12000908 SSH2 slingshot protein phosphatase 2 gene DOID:630 genetic disease ISO RGD:1319710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12000955 LOC103783322 cytochrome c oxidase subunit 8A, mitochondrial gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1348555 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12000955 LOC103783322 cytochrome c oxidase subunit 8A, mitochondrial gene DOID:1059 intellectual disability ISO RGD:1348555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12000955 LOC103783322 cytochrome c oxidase subunit 8A, mitochondrial gene DOID:3070 high grade glioma ISO RGD:1348555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12000955 LOC103783322 cytochrome c oxidase subunit 8A, mitochondrial gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1348555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:25741868|PMID:26685157 12000955 LOC103783322 cytochrome c oxidase subunit 8A, mitochondrial gene DOID:9001092 Mitochondrial Complex IV Deficiency, Nuclear Type 15 ISO RGD:1348555 D RGD:7240710 20201111 OMIM 12000955 LOC103783322 cytochrome c oxidase subunit 8A, mitochondrial gene DOID:9001092 Mitochondrial Complex IV Deficiency, Nuclear Type 15 ISO RGD:1348555 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 PMID:25741868|PMID:28492532 12001026 PIAS3 protein inhibitor of activated STAT 3 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1344818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 12001026 PIAS3 protein inhibitor of activated STAT 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1344818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12001026 PIAS3 protein inhibitor of activated STAT 3 gene DOID:5419 schizophrenia ISO RGD:1344818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12001026 PIAS3 protein inhibitor of activated STAT 3 gene DOID:630 genetic disease ISO RGD:1344818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12001026 PIAS3 protein inhibitor of activated STAT 3 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1344818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25061499 12001026 PIAS3 protein inhibitor of activated STAT 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12001061 KAT14 lysine acetyltransferase 14 gene DOID:630 genetic disease ISO RGD:1319928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12001061 KAT14 lysine acetyltransferase 14 gene DOID:9006233 Mitochondrial Complex IV Deficiency, Nuclear Type 19 ISO RGD:1319928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 PMID:25741868|PMID:28386624 12001061 KAT14 lysine acetyltransferase 14 gene DOID:9008086 Developmental Disabilities ISO RGD:1319928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:26539891 12001075 NFE2 nuclear factor, erythroid 2 gene DOID:630 genetic disease ISO RGD:1315759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12001075 NFE2 nuclear factor, erythroid 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12001085 KYNU kynureninase gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:734173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 12001085 KYNU kynureninase gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:734173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:21981781|PMID:23632792 12001085 KYNU kynureninase gene DOID:0081122 Catel Manzke syndrome ISO RGD:734173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: MICROGNATHIA DIGITAL SYNDROME PMID:25741868|PMID:31923704|PMID:33942433 12001085 KYNU kynureninase gene DOID:0112257 hydroxykynureninuria ISO RGD:734173 D RGD:7240710 20180130 OMIM 12001085 KYNU kynureninase gene DOID:0112257 hydroxykynureninuria ISO RGD:734173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydroxykynureninuria PMID:17334708|PMID:25741868 12001085 KYNU kynureninase gene DOID:10763 hypertension ISO RGD:71061 D RGD:9068941 20200609 RGD PMID:11924719|REF_RGD_ID:631322 12001085 KYNU kynureninase gene DOID:1289 neurodegenerative disease ISO RGD:734173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16365156 12001085 KYNU kynureninase gene DOID:630 genetic disease ISO RGD:734173 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12001085 KYNU kynureninase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12001085 KYNU kynureninase gene DOID:9003412 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 ISO RGD:734173 D RGD:7240710 20190315 OMIM 12001085 KYNU kynureninase gene DOID:9003412 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 ISO RGD:734173 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Vertebral, cardiac, renal, and limb defects syndrome 2 PMID:25741868|PMID:28792876|PMID:34200361 12001085 KYNU kynureninase gene DOID:9005372 Inflammation ISO RGD:734173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16365156 12001106 HAMP hepcidin antimicrobial peptide gene DOID:0050649 atransferrinemia treatment ISO RGD:1550218 D RGD:9068941 20200609 RGD PMID:20956801|REF_RGD_ID:11041615 12001106 HAMP hepcidin antimicrobial peptide gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1550218 D RGD:9068941 20200609 RGD associated with iron overload;protein:increased expression:serum (human) PMID:29871592|REF_RGD_ID:15042878 12001106 HAMP hepcidin antimicrobial peptide gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1550218 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:28051796|REF_RGD_ID:15042880 12001106 HAMP hepcidin antimicrobial peptide gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:70971 D RGD:9068941 20200609 RGD associated with iron overload;protein:increased expression:serum (human) PMID:29871592|REF_RGD_ID:15042878 12001106 HAMP hepcidin antimicrobial peptide gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:28051796|REF_RGD_ID:15042880 12001106 HAMP hepcidin antimicrobial peptide gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:736414 D RGD:9068941 20200609 RGD associated with iron overload;protein:increased expression:serum (human) PMID:29871592|REF_RGD_ID:15042878 12001106 HAMP hepcidin antimicrobial peptide gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:736414 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:28051796|REF_RGD_ID:15042880 12001106 HAMP hepcidin antimicrobial peptide gene DOID:0110222 Brugada syndrome 5 ISO RGD:736414 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12001106 HAMP hepcidin antimicrobial peptide gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:736414 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12001106 HAMP hepcidin antimicrobial peptide gene DOID:0111027 hemochromatosis type 2A ISO RGD:736414 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Hemochromatosis, type 2a, modifier of PMID:12915468|PMID:19214511|PMID:28492532 12001106 HAMP hepcidin antimicrobial peptide gene DOID:0111029 hemochromatosis type 1 ISO RGD:736414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 1 PMID:12915468|PMID:17576681|PMID:19214511|PMID:28492532|PMID:9536098 12001106 HAMP hepcidin antimicrobial peptide gene DOID:0111032 hemochromatosis type 2B ISO RGD:736414 D RGD:7240710 20180130 OMIM 12001106 HAMP hepcidin antimicrobial peptide gene DOID:0111032 hemochromatosis type 2B ISO RGD:736414 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 2B PMID:12469120|PMID:12915468|PMID:15082576|PMID:15198949|PMID:19214511|PMID:21088809|PMID:25326637|PMID:25741868|PMID:28492532 12001106 HAMP hepcidin antimicrobial peptide gene DOID:0111034 hemochromatosis type 2 ISO RGD:736414 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Juvenile hemochromatosis 12001106 HAMP hepcidin antimicrobial peptide gene DOID:11758 iron deficiency anemia ISO RGD:1550218 D RGD:9068941 20200609 RGD PMID:17218383|REF_RGD_ID:11041606 12001106 HAMP hepcidin antimicrobial peptide gene DOID:11758 iron deficiency anemia ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:22457245|REF_RGD_ID:11041634 12001106 HAMP hepcidin antimicrobial peptide gene DOID:12236 primary biliary cholangitis ISO RGD:736414 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:19652645|REF_RGD_ID:11041639 12001106 HAMP hepcidin antimicrobial peptide gene DOID:12236 primary biliary cholangitis treatment ISO RGD:70971 D RGD:9068941 20200609 RGD PMID:23704825|REF_RGD_ID:11041732 12001106 HAMP hepcidin antimicrobial peptide gene DOID:12241 beta thalassemia ISO RGD:736414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16755567 12001106 HAMP hepcidin antimicrobial peptide gene DOID:12241 beta thalassemia ISO RGD:736414 D RGD:9068941 20200609 RGD PMID:23905873|REF_RGD_ID:11041617 12001106 HAMP hepcidin antimicrobial peptide gene DOID:12241 beta thalassemia treatment ISO RGD:1550218 D RGD:9068941 20200609 RGD PMID:17299088|REF_RGD_ID:11041616 12001106 HAMP hepcidin antimicrobial peptide gene DOID:1340 pure red-cell aplasia ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:25580431|REF_RGD_ID:11041717 12001106 HAMP hepcidin antimicrobial peptide gene DOID:13608 biliary atresia ISO RGD:736414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16627878 12001106 HAMP hepcidin antimicrobial peptide gene DOID:13619 extrahepatic cholestasis ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:19652645|REF_RGD_ID:11041639 12001106 HAMP hepcidin antimicrobial peptide gene DOID:2352 hemochromatosis ISO RGD:736414 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hemochromatosis, juvenile, digenic | ClinVar Annotator: match by term: Hereditary hemochromatosis PMID:12915468|PMID:14630809|PMID:14670915|PMID:15024747|PMID:15082576|PMID:15099344|PMID:16141345|PMID:16199547|PMID:17576681|PMID:19214511|PMID:19787796|PMID:21088809|PMID:21411349|PMID:22297252|PMID:25326637|PMID:25741868|PMID:26310624|PMID:26547814|PMID:26799139|PMID:28492532|PMID:33016646|PMID:9536098 12001106 HAMP hepcidin antimicrobial peptide gene DOID:2355 anemia ISO RGD:1550218 D RGD:9068941 20200609 RGD associated with Inflammation PMID:24357729|REF_RGD_ID:11041614 12001106 HAMP hepcidin antimicrobial peptide gene DOID:2355 anemia ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:21411831|REF_RGD_ID:11041773 12001106 HAMP hepcidin antimicrobial peptide gene DOID:2355 anemia ISO RGD:736414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16434484|PMID:16627556|PMID:24086573 12001106 HAMP hepcidin antimicrobial peptide gene DOID:2355 anemia ISO RGD:736414 D RGD:9068941 20200609 RGD associated with Malaria, Falciparum PMID:22689680|REF_RGD_ID:11041620 12001106 HAMP hepcidin antimicrobial peptide gene DOID:2355 anemia treatment ISO RGD:70971 D RGD:9068941 20200609 RGD associated with Inflammation PMID:21730356|PMID:24895335|REF_RGD_ID:11041618|REF_RGD_ID:11041619 12001106 HAMP hepcidin antimicrobial peptide gene DOID:2355 anemia treatment ISO RGD:736414 D RGD:9068941 20200609 RGD associated with Multiple Myeloma PMID:25052873|REF_RGD_ID:11041612 12001106 HAMP hepcidin antimicrobial peptide gene DOID:3525 middle cerebral artery infarction ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex, hippocampus, corpus striatum PMID:21957487|REF_RGD_ID:11041635 12001106 HAMP hepcidin antimicrobial peptide gene DOID:543 dystonia ISO RGD:736414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12001106 HAMP hepcidin antimicrobial peptide gene DOID:5844 myocardial infarction ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:19615879|REF_RGD_ID:11041636 12001106 HAMP hepcidin antimicrobial peptide gene DOID:6000 congestive heart failure ISO RGD:736414 D RGD:9068941 20200609 RGD protein:increased expression:serum, urine PMID:21080339|REF_RGD_ID:11041621 12001106 HAMP hepcidin antimicrobial peptide gene DOID:630 genetic disease ISO RGD:736414 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12001106 HAMP hepcidin antimicrobial peptide gene DOID:684 hepatocellular carcinoma ISO RGD:736414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12001106 HAMP hepcidin antimicrobial peptide gene DOID:684 hepatocellular carcinoma ISO RGD:736414 D RGD:9068941 20200609 RGD DNA:hypermethylation,hypomethylation:promoter PMID:29235098|REF_RGD_ID:15042879 12001106 HAMP hepcidin antimicrobial peptide gene DOID:783 end stage renal disease ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:20631677|REF_RGD_ID:11041611 12001106 HAMP hepcidin antimicrobial peptide gene DOID:783 end stage renal disease ISO RGD:736414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16929540 12001106 HAMP hepcidin antimicrobial peptide gene DOID:783 end stage renal disease ISO RGD:736414 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19212416|REF_RGD_ID:11041622 12001106 HAMP hepcidin antimicrobial peptide gene DOID:820 myocarditis ISO RGD:736414 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:19615879|REF_RGD_ID:11041636 12001106 HAMP hepcidin antimicrobial peptide gene DOID:893 Wilson disease ISO RGD:736414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 12001106 HAMP hepcidin antimicrobial peptide gene DOID:9000099 Experimental Colitis ISO RGD:70971 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:24764672|REF_RGD_ID:11041628 12001106 HAMP hepcidin antimicrobial peptide gene DOID:9002265 Kidney Neoplasms ISO RGD:736414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 12001106 HAMP hepcidin antimicrobial peptide gene DOID:9002311 Experimental Autoimmune Myocarditis ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:19615879|REF_RGD_ID:11041636 12001106 HAMP hepcidin antimicrobial peptide gene DOID:9003936 Cardiomegaly ISO RGD:70971 D RGD:9068941 20200609 RGD PMID:24424338|REF_RGD_ID:11041632 12001106 HAMP hepcidin antimicrobial peptide gene DOID:9005099 Salmonella Infections, Animal ISO RGD:1550218 D RGD:9068941 20200609 RGD PMID:23390527|REF_RGD_ID:11041609 12001106 HAMP hepcidin antimicrobial peptide gene DOID:9005725 Iron Overload ISO RGD:70971 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19524651|REF_RGD_ID:11041720 12001106 HAMP hepcidin antimicrobial peptide gene DOID:9005725 Iron Overload ISO RGD:736414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20801540|PMID:22659129 12001106 HAMP hepcidin antimicrobial peptide gene DOID:9005725 Iron Overload ISO RGD:736414 D RGD:9068941 20200609 RGD associated with Beta-Thalassemia;DNA:SNP:promoter:c.-582A>G (rs10421768) (human) PMID:19734422|REF_RGD_ID:11041610 12001106 HAMP hepcidin antimicrobial peptide gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:19253830|REF_RGD_ID:11041633 12001106 HAMP hepcidin antimicrobial peptide gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:increased expression:hepatocyte PMID:24373749|REF_RGD_ID:11041724 12001106 HAMP hepcidin antimicrobial peptide gene DOID:9007692 Insulin Resistance ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:17350134|REF_RGD_ID:1601515 12001106 HAMP hepcidin antimicrobial peptide gene DOID:9008114 Helicobacter Infections treatment ISO RGD:736414 D RGD:9068941 20200609 RGD PMID:21757452|REF_RGD_ID:11041721 12001106 HAMP hepcidin antimicrobial peptide gene DOID:9008550 Vitamin A Deficiency ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:19217259|REF_RGD_ID:11041734 12001106 HAMP hepcidin antimicrobial peptide gene DOID:9775 diastolic heart failure ISO RGD:736414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12001106 Hamp hepcidin antimicrobial peptide gene DOID:684 hepatocellular carcinoma ISO RGD:1550218 D RGD:9068941 20200609 RGD DNA:hypermethylation,hypomethylation:promoter PMID:29235098|REF_RGD_ID:15042879 12001106 Hamp hepcidin antimicrobial peptide gene DOID:684 hepatocellular carcinoma ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:29235098|REF_RGD_ID:15042879 12001125 LOC100979837 olfactory receptor 51B4 gene DOID:630 genetic disease ISO RGD:1344392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12001133 SLC25A32 solute carrier family 25 member 32 gene DOID:0111590 Cohen syndrome ISO RGD:1605933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12001133 SLC25A32 solute carrier family 25 member 32 gene DOID:10283 prostate cancer ISO RGD:1605933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:28492532 12001133 SLC25A32 solute carrier family 25 member 32 gene DOID:630 genetic disease ISO RGD:1605933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12001133 SLC25A32 solute carrier family 25 member 32 gene DOID:9006878 Exercise Intolerance ISO RGD:1605933 D RGD:7240710 20190315 OMIM 12001133 SLC25A32 solute carrier family 25 member 32 gene DOID:9006878 Exercise Intolerance ISO RGD:1605933 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Exercise intolerance, riboflavin-responsive PMID:25741868|PMID:26933868|PMID:28492532 12001144 EPHA1 EPH receptor A1 gene DOID:10652 Alzheimer's disease ISO RGD:1312265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21460840|PMID:21460841 12001144 EPHA1 EPH receptor A1 gene DOID:630 genetic disease ISO RGD:1312265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12001144 EPHA1 EPH receptor A1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1312265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19277044 12001175 DAAM2 dishevelled associated activator of morphogenesis 2 gene DOID:0111164 molybdenum cofactor deficiency type A ISO RGD:1314563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group A 12001175 DAAM2 dishevelled associated activator of morphogenesis 2 gene DOID:0111165 molybdenum cofactor deficiency ISO RGD:1314563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency 12001175 DAAM2 dishevelled associated activator of morphogenesis 2 gene DOID:11476 osteoporosis ISO RGD:1314563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30598549 12001175 DAAM2 dishevelled associated activator of morphogenesis 2 gene DOID:630 genetic disease ISO RGD:1314563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12001175 DAAM2 dishevelled associated activator of morphogenesis 2 gene DOID:9003441 Nephrotic Syndrome Type 24 ISO RGD:1314563 D RGD:7240710 20210414 OMIM 12001175 DAAM2 dishevelled associated activator of morphogenesis 2 gene DOID:9003441 Nephrotic Syndrome Type 24 ISO RGD:1314563 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 24 PMID:25741868|PMID:33232676 12001215 FGFBP3 fibroblast growth factor binding protein 3 gene DOID:630 genetic disease ISO RGD:1347294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12001222 PDHB pyruvate dehydrogenase E1 subunit beta gene DOID:1826 epilepsy ISO RGD:1343920 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12001222 PDHB pyruvate dehydrogenase E1 subunit beta gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:1343920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12001222 PDHB pyruvate dehydrogenase E1 subunit beta gene DOID:4450 renal cell carcinoma ISO RGD:1343920 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 12001222 PDHB pyruvate dehydrogenase E1 subunit beta gene DOID:630 genetic disease ISO RGD:1343920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12001222 PDHB pyruvate dehydrogenase E1 subunit beta gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1343920 D RGD:7240710 20180130 OMIM 12001222 PDHB pyruvate dehydrogenase E1 subunit beta gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1343920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:15138885|PMID:16199547|PMID:17576681|PMID:18164639|PMID:19924563|PMID:21914562|PMID:25356417|PMID:25741868|PMID:26014431|PMID:26865159|PMID:28492532|PMID:9536098 12001222 PDHB pyruvate dehydrogenase E1 subunit beta gene DOID:9005740 Pyruvate Dehydrogenase Phosphatase Deficiency ISO RGD:1343920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase phosphatase deficiency PMID:25741868|PMID:28492532 12001236 KNDC1 kinase non-catalytic C-lobe domain containing 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1351519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12001236 KNDC1 kinase non-catalytic C-lobe domain containing 1 gene DOID:3007 breast ductal carcinoma ISO RGD:1351519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12001236 KNDC1 kinase non-catalytic C-lobe domain containing 1 gene DOID:630 genetic disease ISO RGD:1351519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12001310 NACA2 nascent polypeptide associated complex subunit alpha 2 gene DOID:0050777 Joubert syndrome ISO RGD:1605228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12001310 NACA2 nascent polypeptide associated complex subunit alpha 2 gene DOID:11372 megacolon ISO RGD:1605228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12001310 NACA2 nascent polypeptide associated complex subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1605228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12001316 STYXL2 serine/threonine/tyrosine interacting like 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1603599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12001316 STYXL2 serine/threonine/tyrosine interacting like 2 gene DOID:630 genetic disease ISO RGD:1603599 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12001316 STYXL2 serine/threonine/tyrosine interacting like 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12001326 COIL coilin gene DOID:0050777 Joubert syndrome ISO RGD:735624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12001326 COIL coilin gene DOID:630 genetic disease ISO RGD:735624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12001338 C6H6orf136 chromosome 6 C6orf136 homolog gene DOID:11372 megacolon ISO RGD:1348259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12001352 PLET1 placenta expressed transcript 1 gene DOID:1059 intellectual disability ISO RGD:1343359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12001352 PLET1 placenta expressed transcript 1 gene DOID:630 genetic disease ISO RGD:1343359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12001352 PLET1 placenta expressed transcript 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1343359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12001360 TTF2 transcription termination factor 2 gene DOID:630 genetic disease ISO RGD:1319323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:0060041 autism spectrum disorder ISO RGD:11070 D RGD:9068941 20220825 MouseDO 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:0060230 basal ganglia calcification ISO RGD:11070 D RGD:9068941 20220825 MouseDO OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:0080109 infantile myofibromatosis ISO RGD:732897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FIBROMATOSIS, CONGENITAL GENERALIZED | ClinVar Annotator: match by term: Infantile myofibromatosis | ClinVar Annotator: match by term: Myofibromatosis, juvenile PMID:12181311|PMID:15054839|PMID:16199547|PMID:17576681|PMID:23731537|PMID:23731542|PMID:25292412|PMID:25741868|PMID:26455322|PMID:28166811|PMID:28183292|PMID:28334876|PMID:28492532|PMID:28639748|PMID:30941910|PMID:31004414|PMID:31017643|PMID:31474318|PMID:9536098 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732897 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:0080855 Parkinsonism ISO RGD:732897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinsonism PMID:25741868 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:0111344 myeloproliferative disorder with eosinophilia ISO RGD:732897 D RGD:7240710 20180130 OMIM 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:0111344 myeloproliferative disorder with eosinophilia ISO RGD:732897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: EOSINOPHILS, MALIGNANT PROLIFERATION OF | ClinVar Annotator: match by term: Myeloproliferative disorder, chronic, with eosinophilia PMID:25454926|PMID:25741868|PMID:26455322|PMID:28492532 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:10283 prostate cancer ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:17854058|REF_RGD_ID:2292228 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:10763 hypertension ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:1657776|REF_RGD_ID:11080972 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:10763 hypertension ISO RGD:3285 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:glomerulus PMID:12047046|REF_RGD_ID:2292214 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:732897 D RGD:9068941 20200609 RGD PMID:22773904|REF_RGD_ID:10053644 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:10907 microcephaly ISO RGD:732897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:10908 hydrocephalus ISO RGD:732897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hydrocephalus PMID:12181311|PMID:25292412|PMID:25741868|PMID:28334876|PMID:28639748|PMID:30941910|PMID:31004414|PMID:31474318 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:11446 sciatic neuropathy ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:19909480|REF_RGD_ID:11080976 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:12215 oligohydramnios ISO RGD:3285 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17519529|REF_RGD_ID:2292203 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:13619 extrahepatic cholestasis treatment ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:18466260|REF_RGD_ID:10449503 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:1612 breast cancer ISO RGD:732897 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17390053|REF_RGD_ID:2292174 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:182 calcinosis ISO RGD:732897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25938945 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:1936 atherosclerosis treatment ISO RGD:11070 D RGD:9068941 20200609 RGD PMID:11413086|REF_RGD_ID:10449506 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:1969 cerebral palsy ISO RGD:732897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:24796542|PMID:25741868|PMID:31064749 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:2226 myeloproliferative neoplasm ISO RGD:11070 D RGD:9068941 20220825 MouseDO 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:2226 myeloproliferative neoplasm ISO RGD:732897 D RGD:9068941 20200609 RGD DNA:translocation: : PMID:12181402|REF_RGD_ID:10450606 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:2696 Leydig cell tumor ISO RGD:732897 D RGD:9068941 20200609 RGD protein:increased expression:testis, leydig cell PMID:11994382|REF_RGD_ID:2298579 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:2785 Dandy-Walker syndrome ISO RGD:732897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dandy-Walker malformation PMID:12181311|PMID:25292412|PMID:25741868|PMID:28334876|PMID:28639748|PMID:30941910|PMID:31004414|PMID:31474318 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:3068 glioblastoma treatment ISO RGD:732897 D RGD:9068941 20200609 RGD PMID:24566984|REF_RGD_ID:13702903 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:3459 breast carcinoma disease_progression ISO RGD:732897 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:16741576|REF_RGD_ID:2292178 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:16917016|REF_RGD_ID:11084934 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:3594 choriocarcinoma ISO RGD:732897 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cytotrophoblast cell PMID:8504434|REF_RGD_ID:2292200 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:4450 renal cell carcinoma ISO RGD:732897 D RGD:9068941 20200609 RGD PMID:15994946|REF_RGD_ID:2292198 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:4450 renal cell carcinoma ISO RGD:732897 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:16865223|REF_RGD_ID:2290496 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:5419 schizophrenia ISO RGD:11070 D RGD:9068941 20220825 MouseDO OMIM:181500 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:630 genetic disease ISO RGD:732897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12181311|PMID:25292412|PMID:25356970|PMID:25741868|PMID:28166811|PMID:28334876|PMID:28492532|PMID:28639748|PMID:30941910|PMID:31004414|PMID:31474318 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:679 basal ganglia disease ISO RGD:732897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25938945 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:8946 severe nonproliferative diabetic retinopathy ISO RGD:11070 D RGD:9068941 20220825 MouseDO 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9000099 Experimental Colitis treatment ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:24115822|REF_RGD_ID:11080973 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9000438 Subarachnoid Hemorrhage ameliorates ISO RGD:3285 D RGD:9068941 20210402 RGD PMID:29480757|REF_RGD_ID:125093745 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9000858 Idiopathic Basal Ganglia Calcification 4 ISO RGD:732897 D RGD:7240710 20180130 OMIM 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9000858 Idiopathic Basal Ganglia Calcification 4 ISO RGD:732897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 4 PMID:15054839|PMID:16199547|PMID:17576681|PMID:20301594|PMID:23255827|PMID:23731537|PMID:23731542|PMID:24796542|PMID:25741868|PMID:26455322|PMID:28166811|PMID:28183292|PMID:28334876|PMID:28492532|PMID:31064749|PMID:9536098 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9000965 Neoplasm Metastasis ISO RGD:732897 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell PMID:15994946|REF_RGD_ID:2292198 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9000965 Neoplasm Metastasis ISO RGD:732897 D RGD:9068941 20200609 RGD mRNA,protein:increased expression: : PMID:14593398|REF_RGD_ID:13703041 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9000998 Brain Injuries ISO RGD:3285 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex, hippocampus PMID:9645955|REF_RGD_ID:11084932 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:15077122|REF_RGD_ID:2292206 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15623374|PMID:18466260 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:18466260|REF_RGD_ID:10449503 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9001600 Wounds and Injuries ISO RGD:3285 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:12533868|REF_RGD_ID:2292211 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:11889420|REF_RGD_ID:11080974 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9002165 Diabetic Nephropathies ISO RGD:732897 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin Dependent PMID:15067514|REF_RGD_ID:2311646 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9002509 Kosaki Overgrowth Syndrome ISO RGD:732897 D RGD:7240710 20180130 OMIM 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9002509 Kosaki Overgrowth Syndrome ISO RGD:732897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kosaki overgrowth syndrome | ClinVar Annotator: match by term: SKELETAL OVERGROWTH WITH FACIAL DYSMORPHISM, HYPERELASTIC SKIN, WHITE MATTER LESIONS, AND NEUROLOGIC DETERIORATION PMID:12181311|PMID:15054839|PMID:16199547|PMID:17576681|PMID:23731537|PMID:23731542|PMID:25292412|PMID:25454926|PMID:25741868|PMID:26455322|PMID:28166811|PMID:28183292|PMID:28334876|PMID:28492532|PMID:28639748|PMID:30941910|PMID:31004414|PMID:31474318|PMID:9536098 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9002514 Neointima treatment ISO RGD:3285 D RGD:9068941 20200609 RGD associated with Carotid Artery Injuries PMID:9323080|REF_RGD_ID:11087557 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9002762 Ovarian Neoplasms ISO RGD:732897 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:15791568|REF_RGD_ID:2298578 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:16042218|REF_RGD_ID:11080975 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9002928 Colonic Neoplasms ISO RGD:11070 D RGD:9068941 20200609 RGD PMID:17050049|REF_RGD_ID:2292176 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9003936 Cardiomegaly ISO RGD:3285 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:heart PMID:11973598|REF_RGD_ID:2292215 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9004241 Infantile Myofibromatosis 1 ISO RGD:732897 D RGD:7240710 20180130 OMIM 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9004241 Infantile Myofibromatosis 1 ISO RGD:732897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myofibromatosis, infantile, 1 PMID:12181311|PMID:15054839|PMID:23731537|PMID:23731542|PMID:25292412|PMID:25741868|PMID:26455322|PMID:28183292|PMID:28334876|PMID:28492532|PMID:28639748|PMID:30941910|PMID:31004414|PMID:31474318 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9004265 Endometrioid Carcinomas ISO RGD:732897 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:15791568|REF_RGD_ID:2298578 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9004283 Transplant Rejection ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:10458478|REF_RGD_ID:1625382 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9004860 Penttinen-Aula Syndrome ISO RGD:732897 D RGD:7240710 20180130 OMIM 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9004860 Penttinen-Aula Syndrome ISO RGD:732897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PENTTINEN SYNDROME | ClinVar Annotator: match by term: Premature aging syndrome, Penttinen type PMID:15054839|PMID:16199547|PMID:17576681|PMID:23720404|PMID:23731537|PMID:23731542|PMID:25741868|PMID:26279204|PMID:26455322|PMID:28166811|PMID:28183292|PMID:28334876|PMID:28492532|PMID:31017643|PMID:9056558|PMID:9536098 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9005147 Hydatidiform Mole ISO RGD:732897 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cytotrophoblast cell PMID:8504434|REF_RGD_ID:2292200 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9005172 Lung Neoplasms ISO RGD:11070 D RGD:9068941 20200609 RGD PMID:17050049|REF_RGD_ID:2292176 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9005396 Intimal Hyperplasia treatment ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:10982551|REF_RGD_ID:10449504 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3285 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus PMID:10802145|REF_RGD_ID:2311654 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:12819032|REF_RGD_ID:1580850 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:3285 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:10550325|REF_RGD_ID:8554477 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732897 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9007480 Hyperoxia ISO RGD:3285 D RGD:9068941 20200609 RGD protein:increased expression:vascular associated smooth muscle cell PMID:15722379|REF_RGD_ID:1580851 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:732897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 3 PMID:25741868|PMID:28492532 12001392 PDGFRB platelet derived growth factor receptor beta gene DOID:9008939 Breast Neoplasms ISO RGD:11070 D RGD:9068941 20200609 RGD PMID:17050049|REF_RGD_ID:2292176 12001430 KIAA2026 KIAA2026 ortholog gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1323134 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12001430 KIAA2026 KIAA2026 ortholog gene DOID:630 genetic disease ISO RGD:1323134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12001444 NPTX1 neuronal pentraxin 1 gene DOID:630 genetic disease ISO RGD:1321571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12001444 NPTX1 neuronal pentraxin 1 gene DOID:9002396 Spinocerebellar Ataxia 50 ISO RGD:1321571 D RGD:7240710 20230104 OMIM 12001444 NPTX1 neuronal pentraxin 1 gene DOID:9002396 Spinocerebellar Ataxia 50 ISO RGD:1321571 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 50 PMID:25741868|PMID:34788392|PMID:35285082|PMID:35560436 12001452 SEC24C SEC24 homolog C, COPII coat complex component gene DOID:10907 microcephaly ISO RGD:1321602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12001452 SEC24C SEC24 homolog C, COPII coat complex component gene DOID:630 genetic disease ISO RGD:1321602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12001503 TMEM237 transmembrane protein 237 gene DOID:0050777 Joubert syndrome ISO RGD:1315474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:17603801|PMID:22152675|PMID:22981120|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31019026|PMID:31710777 12001503 TMEM237 transmembrane protein 237 gene DOID:0050778 Meckel syndrome ISO RGD:1315474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25558065|PMID:25741868 12001503 TMEM237 transmembrane protein 237 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1315474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12001503 TMEM237 transmembrane protein 237 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1315474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12001503 TMEM237 transmembrane protein 237 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1315474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 1 PMID:25741868|PMID:28492532 12001503 TMEM237 transmembrane protein 237 gene DOID:0110983 Joubert syndrome 14 ISO RGD:1315474 D RGD:7240710 20180130 OMIM 12001503 TMEM237 transmembrane protein 237 gene DOID:0110983 Joubert syndrome 14 ISO RGD:1315474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 14 PMID:11586298|PMID:14760273|PMID:16199547|PMID:17576681|PMID:17603801|PMID:22152675|PMID:22981120|PMID:23351400|PMID:24033266|PMID:24315819|PMID:25558065|PMID:25741868|PMID:26092869|PMID:26673778|PMID:28492532|PMID:28600779|PMID:31019026|PMID:31710777|PMID:9536098 12001503 TMEM237 transmembrane protein 237 gene DOID:630 genetic disease ISO RGD:1315474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12001503 TMEM237 transmembrane protein 237 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1315474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12001503 TMEM237 transmembrane protein 237 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12001503 TMEM237 transmembrane protein 237 gene DOID:9005843 Hereditary Spastic Paralysis, Infantile Onset Ascending ISO RGD:1315474 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis PMID:11586298|PMID:22152675|PMID:24315819|PMID:28492532 12001503 TMEM237 transmembrane protein 237 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1315474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12001526 LENG1 leukocyte receptor cluster member 1 gene DOID:630 genetic disease ISO RGD:1317415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12001534 VTI1A vesicle transport through interaction with t-SNAREs 1A gene DOID:299 adenocarcinoma ISO RGD:736863 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21892161 12001534 VTI1A vesicle transport through interaction with t-SNAREs 1A gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12001534 VTI1A vesicle transport through interaction with t-SNAREs 1A gene DOID:630 genetic disease ISO RGD:736863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12001534 VTI1A vesicle transport through interaction with t-SNAREs 1A gene DOID:9008443 Colorectal Neoplasms ISO RGD:736863 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21892161 12001556 OLFM4 olfactomedin 4 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1323306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12001556 OLFM4 olfactomedin 4 gene DOID:1059 intellectual disability ISO RGD:1323306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12001556 OLFM4 olfactomedin 4 gene DOID:289 endometriosis ISO RGD:1323306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21048224 12001556 OLFM4 olfactomedin 4 gene DOID:630 genetic disease ISO RGD:1323306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12001565 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:0050545 visceral heterotaxy ISO RGD:1622226 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 12001565 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1319654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 12001565 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:0080322 polycystic kidney disease ISO RGD:3334 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.R823W(rat) PMID:21119215|REF_RGD_ID:7207426 12001565 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:0080322 polycystic kidney disease ISO RGD:3334 D RGD:9068941 20210212 RGD PMID:16207829|PMID:7933831|REF_RGD_ID:11534987|REF_RGD_ID:1300446 12001565 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1319654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 12001565 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1319654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 12001565 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:0111124 nephronophthisis 16 ISO RGD:1319654 D RGD:7240710 20180130 OMIM 12001565 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:0111124 nephronophthisis 16 ISO RGD:1319654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis 16 PMID:17576681|PMID:23793029|PMID:24610927|PMID:25599650|PMID:25741868|PMID:28492532|PMID:9536098 12001565 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:1059 intellectual disability ISO RGD:1319654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12001565 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:12712 nephronophthisis ISO RGD:1319654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 12001565 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1319654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 12001565 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:2975 cystic kidney disease ISO RGD:1319654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23793029 12001565 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:4676 uremia ISO RGD:3334 D RGD:9068941 20210212 RGD PMID:7933831|REF_RGD_ID:1300446 12001565 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:5082 liver cirrhosis ISO RGD:1319654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23793029 12001565 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:576 proteinuria ISO RGD:3334 D RGD:9068941 20210212 RGD PMID:7933831|REF_RGD_ID:1300446 12001565 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:630 genetic disease ISO RGD:1319654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12001565 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:758 situs inversus ISO RGD:1319654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23793029 12001565 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1319654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12089381 12001565 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:9001793 Generalized Epilepsy ISO RGD:1319654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 12001565 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1319654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23793029 12001598 MMAB metabolism of cobalamin associated B gene DOID:0050452 mevalonic aciduria ISO RGD:1347796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mevalonic aciduria PMID:23707710|PMID:24033266|PMID:25741868|PMID:28492532 12001598 MMAB metabolism of cobalamin associated B gene DOID:0060743 methylmalonic acidemia cblB type ISO RGD:1347796 D RGD:7240710 20180130 OMIM 12001598 MMAB metabolism of cobalamin associated B gene DOID:0060743 methylmalonic acidemia cblB type ISO RGD:1347796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblB type PMID:12471062|PMID:15044458|PMID:15523652|PMID:15781192|PMID:16199547|PMID:16311595|PMID:16410054|PMID:16439175|PMID:17176040|PMID:17410422|PMID:17576681|PMID:17948227|PMID:17957493|PMID:18251506|PMID:18452306|PMID:19625202|PMID:20301409|PMID:20549364|PMID:20556797|PMID:20696242|PMID:21048060|PMID:21604717|PMID:22614770|PMID:22695176|PMID:23674520|PMID:23707710|PMID:24033266|PMID:24059531|PMID:24516753|PMID:24813872|PMID:25525159|PMID:25741868|PMID:25760844|PMID:26589311|PMID:27591164|PMID:28468868|PMID:28492532|PMID:29039164|PMID:29197662|PMID:30022420|PMID:30041674|PMID:30712249|PMID:31260114|PMID:31622506|PMID:33453710|PMID:33552909|PMID:34796408|PMID:9536098 12001598 MMAB metabolism of cobalamin associated B gene DOID:0081329 glycogen storage disease I ISO RGD:1347796 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency PMID:24033266|PMID:25741868|PMID:28492532 12001598 MMAB metabolism of cobalamin associated B gene DOID:14749 methylmalonic acidemia ISO RGD:1347796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:12471062|PMID:15523652|PMID:15781192|PMID:16199547|PMID:16311595|PMID:16410054|PMID:16439175|PMID:17410422|PMID:17576681|PMID:17948227|PMID:17957493|PMID:19625202|PMID:20301409|PMID:20556797|PMID:20696242|PMID:21048060|PMID:21604717|PMID:22614770|PMID:22695176|PMID:23707710|PMID:24033266|PMID:24059531|PMID:24516753|PMID:24813872|PMID:25525159|PMID:25741868|PMID:26589311|PMID:28492532|PMID:29039164|PMID:29197662|PMID:30022420|PMID:31260114|PMID:34796408|PMID:9536098 12001598 MMAB metabolism of cobalamin associated B gene DOID:2749 glycogen storage disease Ia ISO RGD:1347796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatorenal form of glycogen storage disease PMID:24033266|PMID:25741868|PMID:28492532 12001598 MMAB metabolism of cobalamin associated B gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1347796 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:24033266|PMID:25741868|PMID:28492532 12001598 MMAB metabolism of cobalamin associated B gene DOID:630 genetic disease ISO RGD:1347796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12471062|PMID:15044458|PMID:15781192|PMID:16311595|PMID:16410054|PMID:16439175|PMID:17176040|PMID:17576681|PMID:17948227|PMID:17957493|PMID:18251506|PMID:19625202|PMID:20301409|PMID:20556797|PMID:20696242|PMID:21048060|PMID:22614770|PMID:23674520|PMID:23707710|PMID:24059531|PMID:25741868|PMID:27591164|PMID:28468868|PMID:28492532|PMID:29197662|PMID:30022420|PMID:30712249|PMID:31260114|PMID:33453710|PMID:34796408|PMID:9536098 12001598 MMAB metabolism of cobalamin associated B gene DOID:655 inherited metabolic disorder ISO RGD:1347796 D RGD:9068941 20200609 RGD methylmalonic aciduria, cblB type, OMIM:251110 PMID:12471062|REF_RGD_ID:1600420 12001598 MMAB metabolism of cobalamin associated B gene DOID:9000408 Porokeratosis 3, Multiple Types ISO RGD:1347796 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: POROKERATOSIS 3, MULTIPLE TYPES | ClinVar Annotator: match by term: Porokeratosis, disseminated superficial actinic 1 PMID:24033266|PMID:25741868|PMID:26202976|PMID:28492532 12001620 METTL6 methyltransferase 6, methylcytidine gene DOID:0060417 3p deletion syndrome ISO RGD:1605295 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12001620 METTL6 methyltransferase 6, methylcytidine gene DOID:630 genetic disease ISO RGD:1605295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12001620 METTL6 methyltransferase 6, methylcytidine gene DOID:9008939 Breast Neoplasms ISO RGD:1605295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 12001650 CDV3 CDV3 homolog gene DOID:630 genetic disease ISO RGD:1602107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12001650 CDV3 CDV3 homolog gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1602107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12001650 CDV3 CDV3 homolog gene DOID:9270 alkaptonuria ISO RGD:1602107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12001671 CRTAC1 cartilage acidic protein 1 gene DOID:630 genetic disease ISO RGD:737274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12001693 TK2 thymidine kinase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1319538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12001693 TK2 thymidine kinase 2 gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:1319538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:12682338|PMID:16504786|PMID:19154348|PMID:19265691|PMID:24033266|PMID:25446393|PMID:25741868|PMID:25948719|PMID:26224072|PMID:27839525|PMID:28492532|PMID:29602790|PMID:29735374|PMID:30831263|PMID:31060578 12001693 TK2 thymidine kinase 2 gene DOID:0080120 mitochondrial DNA depletion syndrome 2 ISO RGD:1319538 D RGD:7240710 20180130 OMIM 12001693 TK2 thymidine kinase 2 gene DOID:0080120 mitochondrial DNA depletion syndrome 2 ISO RGD:1319538 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 2 PMID:25741868|PMID:28492532|PMID:29783828|PMID:33013660 12001693 TK2 thymidine kinase 2 gene DOID:0080600 COVID-19 ISO RGD:1319538 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12001693 TK2 thymidine kinase 2 gene DOID:0110255 cataract 5 multiple types ISO RGD:1319538 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 12001693 TK2 thymidine kinase 2 gene DOID:0111523 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 ISO RGD:1319538 D RGD:7240710 20190315 OMIM 12001693 TK2 thymidine kinase 2 gene DOID:0111523 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 ISO RGD:1319538 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 PMID:12655576|PMID:12682338|PMID:15907288|PMID:18819985|PMID:19265691|PMID:21937588|PMID:25326635|PMID:25741868|PMID:28492532|PMID:29602790 12001693 TK2 thymidine kinase 2 gene DOID:423 myopathy ISO RGD:1319538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy PMID:22345218 12001693 TK2 thymidine kinase 2 gene DOID:630 genetic disease ISO RGD:1319538 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12001693 TK2 thymidine kinase 2 gene DOID:699 mitochondrial myopathy ISO RGD:1319538 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial Myopathies PMID:25741868|PMID:28492532|PMID:29783828|PMID:33013660 12001693 TK2 thymidine kinase 2 gene DOID:9002774 Mitochondrial DNA Depletion Syndrome, Myopathic Form ISO RGD:1319538 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome, myopathic form PMID:11687801|PMID:12391347|PMID:12493767|PMID:12655576|PMID:12682338|PMID:12873860|PMID:15639197|PMID:15907288|PMID:16504786|PMID:16908738|PMID:1734306|PMID:17576681|PMID:18508266|PMID:18819985|PMID:19154348|PMID:19265691|PMID:19736010|PMID:20083405|PMID:20421844|PMID:21937588|PMID:22345218|PMID:23303857|PMID:23932787|PMID:23963299|PMID:24033266|PMID:24484525|PMID:25326635|PMID:25446393|PMID:25741868|PMID:25948719|PMID:26224072|PMID:26467025|PMID:26925861|PMID:27660820|PMID:27839525|PMID:28492532|PMID:28812460|PMID:29602790|PMID:29735374|PMID:29783828|PMID:31060578|PMID:31125140|PMID:33013660|PMID:9536098 12001710 ORAI1 ORAI calcium release-activated calcium modulator 1 gene DOID:0080089 tubular aggregate myopathy 1 ISO RGD:1606201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, tubular aggregate, 1 PMID:28492532 12001710 ORAI1 ORAI calcium release-activated calcium modulator 1 gene DOID:0080686 tubular aggregate myopathy 2 ISO RGD:1606201 D RGD:7240710 20200619 OMIM 12001710 ORAI1 ORAI calcium release-activated calcium modulator 1 gene DOID:0080686 tubular aggregate myopathy 2 ISO RGD:1606201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myopathy, tubular aggregate, 2 PMID:15452313|PMID:24591628|PMID:25227914|PMID:25741868|PMID:27882542|PMID:28492532|PMID:30382595 12001710 ORAI1 ORAI calcium release-activated calcium modulator 1 gene DOID:0111976 immunodeficiency 9 ISO RGD:1606201 D RGD:7240710 20180130 OMIM 12001710 ORAI1 ORAI calcium release-activated calcium modulator 1 gene DOID:0111976 immunodeficiency 9 ISO RGD:1606201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to ORAI1 deficiency PMID:16582901|PMID:18187424|PMID:20004786|PMID:23447534|PMID:23613525|PMID:24033266|PMID:25227914|PMID:25741868|PMID:26070885|PMID:26138675|PMID:26576490|PMID:27063589|PMID:27066545|PMID:28058752|PMID:28492532|PMID:29155098|PMID:29184031|PMID:30382595|PMID:31036819|PMID:33361160|PMID:7531512|PMID:7798233|PMID:8814256 12001710 ORAI1 ORAI calcium release-activated calcium modulator 1 gene DOID:10763 hypertension ISO RGD:1606201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19897708 12001710 ORAI1 ORAI calcium release-activated calcium modulator 1 gene DOID:422 congenital structural myopathy ISO RGD:1606201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12001710 ORAI1 ORAI calcium release-activated calcium modulator 1 gene DOID:630 genetic disease ISO RGD:1606201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12001710 ORAI1 ORAI calcium release-activated calcium modulator 1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1606201 D RGD:9068941 20220616 RGD associated with stomach cancer; human cells in mouse model PMID:27431311|REF_RGD_ID:152995400 12001737 GPR152 G protein-coupled receptor 152 gene DOID:1059 intellectual disability ISO RGD:1354216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12001737 GPR152 G protein-coupled receptor 152 gene DOID:630 genetic disease ISO RGD:1354216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12001737 GPR152 G protein-coupled receptor 152 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1354216 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12001737 GPR152 G protein-coupled receptor 152 gene DOID:9004066 Congenital Stationary Night Blindness 2B ISO RGD:1354216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod synaptic disorder, congenital nonprogressive 12001737 GPR152 G protein-coupled receptor 152 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1354216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12001742 NDOR1 NADPH dependent diflavin oxidoreductase 1 gene DOID:0050777 Joubert syndrome ISO RGD:1318271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12001742 NDOR1 NADPH dependent diflavin oxidoreductase 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1318271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 12001742 NDOR1 NADPH dependent diflavin oxidoreductase 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1318271 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 12001742 NDOR1 NADPH dependent diflavin oxidoreductase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1318271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12001742 NDOR1 NADPH dependent diflavin oxidoreductase 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1318271 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12001742 NDOR1 NADPH dependent diflavin oxidoreductase 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1318271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12001742 NDOR1 NADPH dependent diflavin oxidoreductase 1 gene DOID:1826 epilepsy ISO RGD:1318271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12001742 NDOR1 NADPH dependent diflavin oxidoreductase 1 gene DOID:630 genetic disease ISO RGD:1318271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12001742 NDOR1 NADPH dependent diflavin oxidoreductase 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1318271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12001781 ZYG11B zyg-11 family member B, cell cycle regulator gene DOID:2907 Goldenhar syndrome ISO RGD:1606215 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Goldenhar syndrome PMID:25741868|PMID:32738032 12001781 ZYG11B zyg-11 family member B, cell cycle regulator gene DOID:630 genetic disease ISO RGD:1606215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12001799 KREMEN2 kringle containing transmembrane protein 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1321902 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12001799 KREMEN2 kringle containing transmembrane protein 2 gene DOID:1826 epilepsy ISO RGD:1321902 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12001799 KREMEN2 kringle containing transmembrane protein 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1321902 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12001799 KREMEN2 kringle containing transmembrane protein 2 gene DOID:3070 high grade glioma ISO RGD:1321902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12001799 KREMEN2 kringle containing transmembrane protein 2 gene DOID:630 genetic disease ISO RGD:1321902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12001819 ALDH3B2 aldehyde dehydrogenase 3 family member B2 gene DOID:0060041 autism spectrum disorder ISO RGD:1318187 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12001819 ALDH3B2 aldehyde dehydrogenase 3 family member B2 gene DOID:1059 intellectual disability ISO RGD:1318187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12001819 ALDH3B2 aldehyde dehydrogenase 3 family member B2 gene DOID:630 genetic disease ISO RGD:1318187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12001819 ALDH3B2 aldehyde dehydrogenase 3 family member B2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1318187 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12001819 ALDH3B2 aldehyde dehydrogenase 3 family member B2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1318187 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12001841 CLEC4C C-type lectin domain family 4 member C gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1349387 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12001841 CLEC4C C-type lectin domain family 4 member C gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1349387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12001841 CLEC4C C-type lectin domain family 4 member C gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1349387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12001841 CLEC4C C-type lectin domain family 4 member C gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1349387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12001841 CLEC4C C-type lectin domain family 4 member C gene DOID:0111621 Temtamy syndrome ISO RGD:1349387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12001841 CLEC4C C-type lectin domain family 4 member C gene DOID:630 genetic disease ISO RGD:1349387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12001841 CLEC4C C-type lectin domain family 4 member C gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1349387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12001853 TLE3 TLE family member 3, transcriptional corepressor gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1351900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12001853 TLE3 TLE family member 3, transcriptional corepressor gene DOID:2717 Bloom syndrome ISO RGD:1351900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12001853 TLE3 TLE family member 3, transcriptional corepressor gene DOID:630 genetic disease ISO RGD:1351900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12001853 TLE3 TLE family member 3, transcriptional corepressor gene DOID:7148 rheumatoid arthritis ISO RGD:1351900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 12001853 TLE3 TLE family member 3, transcriptional corepressor gene DOID:9008939 Breast Neoplasms ISO RGD:1351900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19075277 12001853 TLE3 TLE family member 3, transcriptional corepressor gene DOID:9256 colorectal cancer ISO RGD:1351900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12001877 CDC42BPG CDC42 binding protein kinase gamma gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12001877 CDC42BPG CDC42 binding protein kinase gamma gene DOID:1059 intellectual disability ISO RGD:1350948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12001877 CDC42BPG CDC42 binding protein kinase gamma gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1350948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12001877 CDC42BPG CDC42 binding protein kinase gamma gene DOID:2746 glycogen storage disease V ISO RGD:1350948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12001877 CDC42BPG CDC42 binding protein kinase gamma gene DOID:3070 high grade glioma ISO RGD:1350948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12001877 CDC42BPG CDC42 binding protein kinase gamma gene DOID:630 genetic disease ISO RGD:1350948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12001994 DNHD1 dynein heavy chain domain 1 gene DOID:0112354 spermatogenic failure 65 ISO RGD:1601824 D RGD:7240710 20220202 OMIM 12001994 DNHD1 dynein heavy chain domain 1 gene DOID:0112354 spermatogenic failure 65 ISO RGD:1601824 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 65 PMID:25741868|PMID:28492532|PMID:33279834|PMID:34932939 12001994 DNHD1 dynein heavy chain domain 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1601824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12001994 DNHD1 dynein heavy chain domain 1 gene DOID:4450 renal cell carcinoma ISO RGD:1601824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 12001994 DNHD1 dynein heavy chain domain 1 gene DOID:4990 essential tremor ISO RGD:1601824 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:25741868|PMID:28492532|PMID:33279834 12001994 DNHD1 dynein heavy chain domain 1 gene DOID:630 genetic disease ISO RGD:1601824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12001994 DNHD1 dynein heavy chain domain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601824 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: DNHD1-related Neurodevelopmental Disorder 12001994 DNHD1 dynein heavy chain domain 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1601824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12002032 NMNAT2 nicotinamide nucleotide adenylyltransferase 2 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1316464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 12002032 NMNAT2 nicotinamide nucleotide adenylyltransferase 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1307331 D RGD:9068941 20200609 RGD protein:decreased expression, decreased activity:heart PMID:22449973|REF_RGD_ID:13782043 12002032 NMNAT2 nicotinamide nucleotide adenylyltransferase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1316464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12002032 NMNAT2 nicotinamide nucleotide adenylyltransferase 2 gene DOID:630 genetic disease ISO RGD:1316464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12574164 12002032 NMNAT2 nicotinamide nucleotide adenylyltransferase 2 gene DOID:8725 vascular dementia ISO RGD:1316464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 12002032 NMNAT2 nicotinamide nucleotide adenylyltransferase 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1316464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12002032 NMNAT2 nicotinamide nucleotide adenylyltransferase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12002047 LCE6A late cornified envelope 6A gene DOID:0111940 immunodeficiency 42 ISO RGD:1343793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12002047 LCE6A late cornified envelope 6A gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1343793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12002047 LCE6A late cornified envelope 6A gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1343793 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12002047 LCE6A late cornified envelope 6A gene DOID:1540 parathyroid carcinoma ISO RGD:1343793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12002047 LCE6A late cornified envelope 6A gene DOID:5812 MHC class II deficiency ISO RGD:1343793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12002047 LCE6A late cornified envelope 6A gene DOID:630 genetic disease ISO RGD:1343793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002047 LCE6A late cornified envelope 6A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12002053 UBE3A ubiquitin protein ligase E3A gene DOID:0060041 autism spectrum disorder ISO RGD:1314934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 12002053 UBE3A ubiquitin protein ligase E3A gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1314934 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 12002053 UBE3A ubiquitin protein ligase E3A gene DOID:0111294 generalized epilepsy with febrile seizures plus 2 ISO RGD:1314934 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2 PMID:25741868 12002053 UBE3A ubiquitin protein ligase E3A gene DOID:1059 intellectual disability ISO RGD:1314934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:14981718|PMID:15054837|PMID:18414213|PMID:19213023|PMID:25212744|PMID:25326635|PMID:25741868|PMID:28492532|PMID:9887341 12002053 UBE3A ubiquitin protein ligase E3A gene DOID:11983 Prader-Willi syndrome ISO RGD:1314934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 12002053 UBE3A ubiquitin protein ligase E3A gene DOID:12849 autistic disorder ISO RGD:1314934 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 12002053 UBE3A ubiquitin protein ligase E3A gene DOID:1826 epilepsy ISO RGD:1314934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15878204 12002053 UBE3A ubiquitin protein ligase E3A gene DOID:1932 Angelman syndrome ISO RGD:1314934 D RGD:7240710 20180130 OMIM 12002053 UBE3A ubiquitin protein ligase E3A gene DOID:1932 Angelman syndrome ISO RGD:1314934 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:10647895|PMID:11748306|PMID:12210318|PMID:12725589|PMID:14981718|PMID:15054837|PMID:15150776|PMID:15263005|PMID:16199547|PMID:16470747|PMID:17576681|PMID:17765640|PMID:17940072|PMID:18414213|PMID:18821858|PMID:19213023|PMID:20034088|PMID:21072004|PMID:22190369|PMID:22670133|PMID:2309781|PMID:23495136|PMID:23708187|PMID:24088041|PMID:24796722|PMID:24876791|PMID:25099823|PMID:25212744|PMID:25326635|PMID:25326637|PMID:25741868|PMID:25884337|PMID:26068938|PMID:26219744|PMID:26255772|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26993267|PMID:27864847|PMID:28281572|PMID:28492532|PMID:29162042|PMID:29188609|PMID:29655203|PMID:29737008|PMID:29758562|PMID:29915382|PMID:31235931|PMID:34906502|PMID:8988171|PMID:8988172|PMID:9536098|PMID:9585605|PMID:9792887|PMID:9887341 12002053 UBE3A ubiquitin protein ligase E3A gene DOID:1932 Angelman syndrome treatment ISO RGD:1314935 D RGD:9068941 20200609 RGD PMID:25470045|PMID:25866966|REF_RGD_ID:12859273|REF_RGD_ID:12859274 12002053 UBE3A ubiquitin protein ligase E3A gene DOID:5419 schizophrenia ISO RGD:1314934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12002053 UBE3A ubiquitin protein ligase E3A gene DOID:630 genetic disease ISO RGD:1314934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14981718|PMID:15054837|PMID:15263005|PMID:16470747|PMID:17765640|PMID:17940072|PMID:18414213|PMID:19213023|PMID:22670133|PMID:2309781|PMID:24876791|PMID:25212744|PMID:25326635|PMID:25741868|PMID:25884337|PMID:26219744|PMID:26255772|PMID:26467025|PMID:28492532|PMID:29188609|PMID:8988171|PMID:9887341 12002053 UBE3A ubiquitin protein ligase E3A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12002053 UBE3A ubiquitin protein ligase E3A gene DOID:9008086 Developmental Disabilities ISO RGD:1314934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12002053 UBE3A ubiquitin protein ligase E3A gene DOID:9008582 Developmental Disease ISO RGD:1314934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12002053 UBE3A ubiquitin protein ligase E3A gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1314934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15878204 12002102 DDX56 DEAD-box helicase 56 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12002102 DDX56 DEAD-box helicase 56 gene DOID:630 genetic disease ISO RGD:1349129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002120 PRDM1 PR/SET domain 1 gene DOID:0050745 diffuse large B-cell lymphoma disease_progression ISO RGD:1323391 D RGD:9068941 20211210 RGD PMID:22321048|REF_RGD_ID:150530470 12002120 PRDM1 PR/SET domain 1 gene DOID:0080600 COVID-19 ISO RGD:1323391 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12002120 PRDM1 PR/SET domain 1 gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma disease_progression ISO RGD:1323391 D RGD:9068941 20211210 RGD PMID:24438193|REF_RGD_ID:150530467 12002120 PRDM1 PR/SET domain 1 gene DOID:12894 Sjogren's syndrome ISO RGD:1323391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 12002120 PRDM1 PR/SET domain 1 gene DOID:1324 lung cancer disease_progression ISO RGD:1323391 D RGD:9068941 20211210 RGD PMID:28378641|REF_RGD_ID:150530469 12002120 PRDM1 PR/SET domain 1 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1323391 D RGD:9068941 20211210 RGD PMID:28378641|REF_RGD_ID:150530469 12002120 PRDM1 PR/SET domain 1 gene DOID:630 genetic disease ISO RGD:1323391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002120 PRDM1 PR/SET domain 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1323391 D RGD:9068941 20211210 RGD associated with hepatitis B; PMID:31100710|REF_RGD_ID:150530465 12002120 PRDM1 PR/SET domain 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1323391 D RGD:9068941 20211210 RGD associated with hepatitis B;DNA:SNP: :rs1010273(human) PMID:31376415|REF_RGD_ID:150530466 12002120 PRDM1 PR/SET domain 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1323391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19898481|PMID:20453842|PMID:23143596 12002120 PRDM1 PR/SET domain 1 gene DOID:8577 ulcerative colitis ISO RGD:1323391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297633 12002120 PRDM1 PR/SET domain 1 gene DOID:9004610 Acute Lung Injury ISO RGD:1323391 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:33109608 12002120 PRDM1 PR/SET domain 1 gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:1323391 D RGD:9068941 20211210 RGD PMID:31100710|REF_RGD_ID:150530465 12002120 PRDM1 PR/SET domain 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1323391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838195 12002120 PRDM1 PR/SET domain 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1323392 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12002120 PRDM1 PR/SET domain 1 gene DOID:9256 colorectal cancer ISO RGD:1323391 D RGD:9068941 20211210 RGD mRNA:increased expression:colorectum: PMID:32393998|REF_RGD_ID:150530478 12002139 CALCOCO1 calcium binding and coiled-coil domain 1 gene DOID:630 genetic disease ISO RGD:731717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002139 CALCOCO1 calcium binding and coiled-coil domain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12002177 AFF1 ALF transcription elongation factor 1 gene DOID:3307 teratoma ISO RGD:1317426 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 12002177 AFF1 ALF transcription elongation factor 1 gene DOID:630 genetic disease ISO RGD:1317426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002227 TXN2 thioredoxin 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:737462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12002227 TXN2 thioredoxin 2 gene DOID:0080016 spina bifida ISO RGD:737462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19165900 12002227 TXN2 thioredoxin 2 gene DOID:0111501 combined oxidative phosphorylation deficiency 29 ISO RGD:737462 D RGD:7240710 20190315 OMIM 12002227 TXN2 thioredoxin 2 gene DOID:0111501 combined oxidative phosphorylation deficiency 29 ISO RGD:737462 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 29 PMID:25741868|PMID:26626369|PMID:28492532 12002227 TXN2 thioredoxin 2 gene DOID:630 genetic disease ISO RGD:737462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12002227 TXN2 thioredoxin 2 gene DOID:9004009 Reperfusion Injury ISO RGD:71040 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex PMID:19128823|REF_RGD_ID:5685030 12002227 TXN2 thioredoxin 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:71040 D RGD:9068941 20200609 RGD mRNA:altered expression:myocardium (rat) PMID:20571744|REF_RGD_ID:5133714 12002227 TXN2 thioredoxin 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:71040 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:15039483|REF_RGD_ID:2306161 12002227 TXN2 thioredoxin 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:71040 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart PMID:18045550|REF_RGD_ID:2306159 12002245 TMED7 transmembrane p24 trafficking protein 7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1342694 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12002245 TMED7 transmembrane p24 trafficking protein 7 gene DOID:12849 autistic disorder ISO RGD:1342694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12002245 TMED7 transmembrane p24 trafficking protein 7 gene DOID:13580 cholestasis ISO RGD:1342694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 12002245 TMED7 transmembrane p24 trafficking protein 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12002245 TMED7 transmembrane p24 trafficking protein 7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1342694 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12002245 TMED7 transmembrane p24 trafficking protein 7 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1342694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 12002252 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1350719 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 PMID:10691414|PMID:10835640|PMID:11950815|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12743777|PMID:12853682|PMID:16885867|PMID:17204147|PMID:17466744|PMID:17525091|PMID:17568390|PMID:18286680|PMID:18414673|PMID:18617776|PMID:19299380|PMID:19453252|PMID:19565042|PMID:19888199|PMID:21303407|PMID:21375584|PMID:22427236|PMID:22749696|PMID:22995991|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24522117|PMID:24844923|PMID:25010710|PMID:25206283|PMID:25741868|PMID:27535533|PMID:28492532|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28984793|PMID:34828289 12002252 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12002252 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:10283 prostate cancer severity ISO RGD:1350719 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland, serum PMID:17306443|REF_RGD_ID:2300382 12002252 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1350719 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:urinary bladder PMID:16327984|REF_RGD_ID:2300384 12002252 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:1793 pancreatic cancer ISO RGD:1350719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19896093 12002252 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:2152 ovary epithelial cancer disease_progression ISO RGD:1350719 D RGD:9068941 20200609 RGD PMID:15269150|REF_RGD_ID:2300386 12002252 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1350719 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:15963628|REF_RGD_ID:2300385 12002252 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:289 endometriosis disease_progression ISO RGD:1350719 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:8988701|REF_RGD_ID:2300390 12002252 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:3702 cervical adenocarcinoma ISO RGD:1350719 D RGD:9068941 20200609 RGD PMID:2258083|REF_RGD_ID:2300391 12002252 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:4450 renal cell carcinoma ISO RGD:1350719 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:10508484|REF_RGD_ID:2300388 12002252 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1350719 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11176522|REF_RGD_ID:2300387 12002252 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:4989 pancreatitis ISO RGD:1350719 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pancreatitis PMID:10691414|PMID:10835640|PMID:11950815|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12743777|PMID:12853682|PMID:16885867|PMID:17204147|PMID:17466744|PMID:17525091|PMID:17568390|PMID:18286680|PMID:18414673|PMID:18617776|PMID:19299380|PMID:19453252|PMID:19565042|PMID:19888199|PMID:21303407|PMID:21375584|PMID:22427236|PMID:22749696|PMID:22995991|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24522117|PMID:24844923|PMID:25010710|PMID:25206283|PMID:25741868|PMID:27535533|PMID:28492532|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28984793|PMID:34828289 12002252 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:9001027 Tropical Calcific Pancreatitis ISO RGD:1350719 D RGD:7240710 20230517 OMIM 12002252 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:9001027 Tropical Calcific Pancreatitis ISO RGD:1350719 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Tropical calcific pancreatitis PMID:10691414|PMID:10835640|PMID:11265669|PMID:11950815|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12743777|PMID:12853682|PMID:16885867|PMID:17204147|PMID:17466744|PMID:17525091|PMID:17568390|PMID:18286680|PMID:18414673|PMID:18617776|PMID:19299380|PMID:19453252|PMID:19565042|PMID:19888199|PMID:21303407|PMID:21375584|PMID:22427236|PMID:22749696|PMID:22995991|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24522117|PMID:24844923|PMID:25010710|PMID:25206283|PMID:25741868|PMID:27535533|PMID:28492532|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28984793|PMID:34828289 12002252 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25735316 12002252 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12002252 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:9005372 Inflammation ISO RGD:3749 D RGD:9068941 20200609 RGD protein:increased expression,increased secretion:liver,serum PMID:7526044|REF_RGD_ID:10043093 12002252 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:9005729 Chronic Experimental Pancreatitis ISO RGD:3749 D RGD:9068941 20200609 RGD protein:increased secretion:pancreatic juice: PMID:12123090|REF_RGD_ID:10044261 12002252 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:9005729 Chronic Experimental Pancreatitis treatment ISO RGD:3749 D RGD:9068941 20200609 RGD PMID:19904222|PMID:22173919|REF_RGD_ID:10043091|REF_RGD_ID:10044253 12002252 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:9006190 Chronic Pancreatitis ISO RGD:1350719 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chronic pancreatitis | ClinVar Annotator: match by term: Pancreatitis, chronic, susceptibility to PMID:10691414|PMID:10835640|PMID:11950815|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12743777|PMID:12853682|PMID:15980664|PMID:16849362|PMID:16885867|PMID:17204147|PMID:17466744|PMID:17525091|PMID:17568390|PMID:18286680|PMID:18414673|PMID:18617776|PMID:18978175|PMID:19299380|PMID:19453252|PMID:19565042|PMID:19888199|PMID:21303407|PMID:21375584|PMID:22427236|PMID:22749696|PMID:22995991|PMID:23017645|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24522117|PMID:24844923|PMID:24909264|PMID:25010710|PMID:25206283|PMID:25741868|PMID:25927356|PMID:26632706|PMID:26719302|PMID:27535533|PMID:27578509|PMID:28492532|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28984793|PMID:29521951|PMID:31401021|PMID:34828289 12002252 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12002252 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:3749 D RGD:9068941 20200609 RGD PMID:15765407|REF_RGD_ID:10043090 12002252 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1350719 D RGD:9068941 20200609 RGD PMID:9891532|REF_RGD_ID:2300389 12002252 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1350719 D RGD:7240710 20230517 OMIM 12002252 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1350719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:10691414|PMID:10835640|PMID:10982753|PMID:11265669|PMID:11355022|PMID:11368029|PMID:11578065|PMID:11950815|PMID:120111|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12651880|PMID:12658397|PMID:12743777|PMID:12825076|PMID:12853682|PMID:12939655|PMID:14526128|PMID:14722925|PMID:15800694|PMID:15980664|PMID:1613792|PMID:16823394|PMID:16849362|PMID:16885867|PMID:17003641|PMID:17048046|PMID:17204147|PMID:17274009|PMID:17466744|PMID:17525091|PMID:17568390|PMID:17576681|PMID:17681820|PMID:18172691|PMID:18182741|PMID:18206809|PMID:18206817|PMID:18286680|PMID:18414673|PMID:18570327|PMID:18580441|PMID:18617776|PMID:1870127|PMID:18978175|PMID:19299380|PMID:19372376|PMID:19453252|PMID:19565042|PMID:19888199|PMID:20510827|PMID:21303407|PMID:21375584|PMID:21610753|PMID:21952138|PMID:22094894|PMID:22228370|PMID:22343980|PMID:22343981|PMID:22427236|PMID:22526274|PMID:22572128|PMID:22577471|PMID:22749696|PMID:22995991|PMID:23017645|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24052272|PMID:24522117|PMID:24795752|PMID:24844923|PMID:24909264|PMID:25010710|PMID:25206283|PMID:25383785|PMID:25741868|PMID:25792561|PMID:25927356|PMID:26228362|PMID:26348468|PMID:26632706|PMID:26719302|PMID:27171515|PMID:27535533|PMID:27578509|PMID:28320769|PMID:28440306|PMID:28472998|PMID:28492532|PMID:28502372|PMID:28536777|PMID:28546060|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28687971|PMID:28984793|PMID:28994706|PMID:29521951|PMID:30420730|PMID:31391146|PMID:31401021|PMID:31628023|PMID:33097431|PMID:33515547|PMID:33534223|PMID:34828289|PMID:3501289|PMID:35974416|PMID:9536098 12002252 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:9351 diabetes mellitus ISO RGD:1350719 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Diabetes mellitus PMID:10835640|PMID:15980664|PMID:16849362|PMID:18978175|PMID:23017645|PMID:23741238|PMID:24909264|PMID:25741868|PMID:25927356|PMID:26632706|PMID:26719302|PMID:27578509|PMID:28492532|PMID:29521951|PMID:31401021 12002261 TAS2R1 taste 2 receptor member 1 gene DOID:630 genetic disease ISO RGD:1352499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002266 ZFP28 ZFP28 zinc finger protein gene DOID:630 genetic disease ISO RGD:1347669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002279 FAXC failed axon connections homolog, metaxin like GST domain containing gene DOID:10283 prostate cancer ISO RGD:1347110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12002279 FAXC failed axon connections homolog, metaxin like GST domain containing gene DOID:630 genetic disease ISO RGD:1347110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002290 MRRF mitochondrial ribosome recycling factor gene DOID:2661 myoepithelioma ISO RGD:1314201 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12002290 MRRF mitochondrial ribosome recycling factor gene DOID:630 genetic disease ISO RGD:1314201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002308 GPR119 G protein-coupled receptor 119 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12002308 GPR119 G protein-coupled receptor 119 gene DOID:12849 autistic disorder ISO RGD:736973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12002308 GPR119 G protein-coupled receptor 119 gene DOID:630 genetic disease ISO RGD:736973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002323 LOC103785522 zinc finger protein 695 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1603629 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12002323 LOC103785522 zinc finger protein 695 gene DOID:13938 amenorrhea ISO RGD:1603629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12002323 LOC103785522 zinc finger protein 695 gene DOID:1540 parathyroid carcinoma ISO RGD:1603629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12002323 LOC103785522 zinc finger protein 695 gene DOID:630 genetic disease ISO RGD:1603629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002323 LOC103785522 zinc finger protein 695 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12002330 ZNF749 zinc finger protein 749 gene DOID:630 genetic disease ISO RGD:1603829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002337 SRRM5 serine/arginine repetitive matrix 5 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:2801093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12002337 SRRM5 serine/arginine repetitive matrix 5 gene DOID:5419 schizophrenia ISO RGD:2801093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12002337 SRRM5 serine/arginine repetitive matrix 5 gene DOID:630 genetic disease ISO RGD:2801093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002355 FGD2 FYVE, RhoGEF and PH domain containing 2 gene DOID:0080600 COVID-19 ISO RGD:1320399 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12002355 FGD2 FYVE, RhoGEF and PH domain containing 2 gene DOID:10283 prostate cancer ISO RGD:1320399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12002355 FGD2 FYVE, RhoGEF and PH domain containing 2 gene DOID:5119 ovarian cyst ISO RGD:1320399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12002355 FGD2 FYVE, RhoGEF and PH domain containing 2 gene DOID:630 genetic disease ISO RGD:1320399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002375 NOP56 NOP56 ribonucleoprotein gene DOID:0050753 cerebellar ataxia ISO RGD:1318922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 12002375 NOP56 NOP56 ribonucleoprotein gene DOID:0050983 spinocerebellar ataxia type 36 ISO RGD:1318922 D RGD:7240710 20180130 OMIM 12002375 NOP56 NOP56 ribonucleoprotein gene DOID:0050983 spinocerebellar ataxia type 36 ISO RGD:1318922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 36 PMID:25741868 12002375 NOP56 NOP56 ribonucleoprotein gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1318922 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12002375 NOP56 NOP56 ribonucleoprotein gene DOID:3910 lung adenocarcinoma ISO RGD:1318922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12002375 NOP56 NOP56 ribonucleoprotein gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1318922 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12002375 NOP56 NOP56 ribonucleoprotein gene DOID:630 genetic disease ISO RGD:1318922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002375 NOP56 NOP56 ribonucleoprotein gene DOID:9000217 Stomach Neoplasms ISO RGD:1318922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12002375 NOP56 NOP56 ribonucleoprotein gene DOID:9000918 Disease Progression ISO RGD:1318922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12002375 NOP56 NOP56 ribonucleoprotein gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1318922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12002375 NOP56 NOP56 ribonucleoprotein gene DOID:9006205 Animal Disease Models ISO RGD:1318922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12002394 CLIC1 chloride intracellular channel 1 gene DOID:0050553 JMP syndrome ISO RGD:1353337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12002394 CLIC1 chloride intracellular channel 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1353337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12002394 CLIC1 chloride intracellular channel 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1353337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12002394 CLIC1 chloride intracellular channel 1 gene DOID:630 genetic disease ISO RGD:1353337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002394 CLIC1 chloride intracellular channel 1 gene DOID:8398 osteoarthritis ISO RGD:1353337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12002394 CLIC1 chloride intracellular channel 1 gene DOID:9000058 Keloid ISO RGD:1353337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12002394 CLIC1 chloride intracellular channel 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1353337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 12002394 CLIC1 chloride intracellular channel 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12002394 CLIC1 chloride intracellular channel 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1353337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 12002404 FGF8 fibroblast growth factor 8 gene DOID:0080201 Peters plus syndrome ISO RGD:733956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peters plus syndrome PMID:25741868|PMID:29584859 12002404 FGF8 fibroblast growth factor 8 gene DOID:0090086 hypogonadotropic hypogonadism 6 with or without anosmia ISO RGD:733956 D RGD:7240710 20190904 OMIM 12002404 FGF8 fibroblast growth factor 8 gene DOID:0090086 hypogonadotropic hypogonadism 6 with or without anosmia ISO RGD:733956 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 6 with or without anosmia PMID:17360555|PMID:18596921|PMID:20463092|PMID:21045958|PMID:21832120|PMID:23533228|PMID:25741868|PMID:26931467|PMID:28492532|PMID:29584859 12002404 FGF8 fibroblast growth factor 8 gene DOID:0110881 holoprosencephaly 1 ISO RGD:733956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 1 PMID:18596921|PMID:21045958|PMID:28492532 12002404 FGF8 fibroblast growth factor 8 gene DOID:10629 microphthalmia ISO RGD:733956 D RGD:9068941 20201218 CTD CTD Direct Evidence: therapeutic PMID:32472575 12002404 FGF8 fibroblast growth factor 8 gene DOID:10892 hypospadias ISO RGD:70891 D RGD:9068941 20200609 RGD PMID:19464577|REF_RGD_ID:2314151 12002404 FGF8 fibroblast growth factor 8 gene DOID:10907 microcephaly ISO RGD:733956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12002404 FGF8 fibroblast growth factor 8 gene DOID:11132 prostatic hypertrophy ISO RGD:733956 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate PMID:10343609|REF_RGD_ID:2289343 12002404 FGF8 fibroblast growth factor 8 gene DOID:11198 DiGeorge syndrome ISO RGD:1553752 D RGD:9068941 20220825 MouseDO OMIM:188400 12002404 FGF8 fibroblast growth factor 8 gene DOID:11198 DiGeorge syndrome ISO RGD:733956 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16399080 12002404 FGF8 fibroblast growth factor 8 gene DOID:1612 breast cancer ISO RGD:733956 D RGD:9068941 20200609 RGD mRNA:increased expression:breast epithelium:significant increase in both the number of tumors expressing FGF8 (p=0.019) and the absolute expression level (p=0.031) PMID:10023681|REF_RGD_ID:2289344 12002404 FGF8 fibroblast growth factor 8 gene DOID:1911 endodermal sinus tumor ISO RGD:733956 D RGD:9068941 20200609 RGD protein:increased expression:testicular germ cell neoplasms PMID:11764380|REF_RGD_ID:2289339 12002404 FGF8 fibroblast growth factor 8 gene DOID:3308 embryonal carcinoma ISO RGD:733956 D RGD:9068941 20200609 RGD protein:increased expression:testicular germ cell neoplasms PMID:11764380|REF_RGD_ID:2289339 12002404 FGF8 fibroblast growth factor 8 gene DOID:3594 choriocarcinoma ISO RGD:733956 D RGD:9068941 20200609 RGD protein:increased expression:testicular germ cell neoplasms PMID:11764380|REF_RGD_ID:2289339 12002404 FGF8 fibroblast growth factor 8 gene DOID:3614 Kallmann syndrome ISO RGD:733956 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12002404 FGF8 fibroblast growth factor 8 gene DOID:4621 holoprosencephaly ISO RGD:733956 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Semilobar holoprosencephaly PMID:20463092|PMID:22399515|PMID:25131394|PMID:25741868|PMID:26467025|PMID:26857713|PMID:26931467|PMID:27363716|PMID:28492532|PMID:29584859 12002404 FGF8 fibroblast growth factor 8 gene DOID:630 genetic disease ISO RGD:733956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002404 FGF8 fibroblast growth factor 8 gene DOID:6419 tetralogy of Fallot ISO RGD:1553752 D RGD:9068941 20220825 MouseDO OMIM:187500 12002404 FGF8 fibroblast growth factor 8 gene DOID:674 cleft palate ISO RGD:733956 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 12002404 FGF8 fibroblast growth factor 8 gene DOID:8634 prostate carcinoma in situ ISO RGD:733956 D RGD:9068941 20200609 RGD PMID:12208767|REF_RGD_ID:2301097 12002404 FGF8 fibroblast growth factor 8 gene DOID:9001460 22q11 Deletion Syndrome ISO RGD:733956 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12223415 12002404 FGF8 fibroblast growth factor 8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733956 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:prostate:isoforms FGF8a and FGF8e PMID:11406643|REF_RGD_ID:2289340 12002404 FGF8 fibroblast growth factor 8 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:733956 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate:expression negatively correlated with Gleason grade (p = 0.02) PMID:10343609|REF_RGD_ID:2289343 12002404 FGF8 fibroblast growth factor 8 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:733956 D RGD:9068941 20200609 RGD protein:increased expression:prostate:expression of isoform FGF8b significantly associated with both stage (P=0.0004) and grade (P<0.0001) PMID:12778074|REF_RGD_ID:2289338 12002404 FGF8 fibroblast growth factor 8 gene DOID:9002457 Experimental Arthritis ISO RGD:70891 D RGD:9068941 20200609 RGD PMID:18699993|REF_RGD_ID:2314157 12002404 FGF8 fibroblast growth factor 8 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:733956 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16720880 12002404 FGF8 fibroblast growth factor 8 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733956 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:ovary PMID:11072239|REF_RGD_ID:2289342 12002404 FGF8 fibroblast growth factor 8 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1553752 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:9840935|REF_RGD_ID:2301098 12002404 FGF8 fibroblast growth factor 8 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1553752 D RGD:9068941 20200609 RGD PMID:9840935|REF_RGD_ID:2301098 12002404 FGF8 fibroblast growth factor 8 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733956 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16720880 12002404 FGF8 fibroblast growth factor 8 gene DOID:9296 cleft lip ISO RGD:733956 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 12002413 KCNAB3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1350747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12002413 KCNAB3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 gene DOID:12177 common variable immunodeficiency ISO RGD:1350747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12002413 KCNAB3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1350747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12002413 KCNAB3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1350747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12002413 KCNAB3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1350747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 12002413 KCNAB3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 gene DOID:630 genetic disease ISO RGD:1350747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002435 GINS2 GINS complex subunit 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1602113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12002435 GINS2 GINS complex subunit 2 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1602113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12002435 GINS2 GINS complex subunit 2 gene DOID:630 genetic disease ISO RGD:1602113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002435 GINS2 GINS complex subunit 2 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1602113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12002464 ZSCAN18 zinc finger and SCAN domain containing 18 gene DOID:630 genetic disease ISO RGD:1343704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002486 TRIM66 tripartite motif containing 66 gene DOID:630 genetic disease ISO RGD:1344439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002523 SHANK2 SH3 and multiple ankyrin repeat domains 2 gene DOID:0060041 autism spectrum disorder ISO RGD:736232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders PMID:22346768|PMID:25741868|PMID:27569545|PMID:30763456 12002523 SHANK2 SH3 and multiple ankyrin repeat domains 2 gene DOID:1059 intellectual disability ISO RGD:736232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 12002523 SHANK2 SH3 and multiple ankyrin repeat domains 2 gene DOID:12849 autistic disorder ISO RGD:736232 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, 17 PMID:20473310|PMID:21994763|PMID:22346768|PMID:25560758|PMID:25741868|PMID:26467025|PMID:27001614|PMID:28492532|PMID:29991577|PMID:30072871|PMID:30911184 12002523 SHANK2 SH3 and multiple ankyrin repeat domains 2 gene DOID:12849 autistic disorder susceptibility ISO RGD:736232 D RGD:7240710 20190502 OMIM 12002523 SHANK2 SH3 and multiple ankyrin repeat domains 2 gene DOID:3312 bipolar disorder ISO RGD:736232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 12002523 SHANK2 SH3 and multiple ankyrin repeat domains 2 gene DOID:630 genetic disease ISO RGD:736232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12002523 SHANK2 SH3 and multiple ankyrin repeat domains 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736232 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:20473310|PMID:25741868|PMID:30911184 12002523 SHANK2 SH3 and multiple ankyrin repeat domains 2 gene DOID:9008086 Developmental Disabilities ISO RGD:736232 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12002552 HOXB3 homeobox B3 gene DOID:630 genetic disease ISO RGD:1321880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002552 HOXB3 homeobox B3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1321880 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34652879 12002552 HOXB3 homeobox B3 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:1321880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18351244 12002562 FAM76B family with sequence similarity 76 member B gene DOID:1059 intellectual disability ISO RGD:1605286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12002562 FAM76B family with sequence similarity 76 member B gene DOID:12704 ataxia telangiectasia ISO RGD:1605286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12002562 FAM76B family with sequence similarity 76 member B gene DOID:630 genetic disease ISO RGD:1605286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002589 RINL Ras and Rab interactor like gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1602985 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12002589 RINL Ras and Rab interactor like gene DOID:630 genetic disease ISO RGD:1602985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002589 RINL Ras and Rab interactor like gene DOID:9352 type 2 diabetes mellitus ISO RGD:1602985 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12002605 PPP1R1C protein phosphatase 1 regulatory inhibitor subunit 1C gene DOID:630 genetic disease ISO RGD:1351328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002622 G0S2 G0/G1 switch 2 gene DOID:0080600 COVID-19 ISO RGD:1604363 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12002622 G0S2 G0/G1 switch 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1604363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12002622 G0S2 G0/G1 switch 2 gene DOID:305 carcinoma ISO RGD:1604363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12002622 G0S2 G0/G1 switch 2 gene DOID:630 genetic disease ISO RGD:1604363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002622 G0S2 G0/G1 switch 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1604363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12002622 G0S2 G0/G1 switch 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12002622 G0S2 G0/G1 switch 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1604363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12002622 G0S2 G0/G1 switch 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12002628 S100PBP S100P binding protein gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1604319 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:16199547|PMID:17576681|PMID:28492532|PMID:9536098 12002628 S100PBP S100P binding protein gene DOID:630 genetic disease ISO RGD:1604319 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12002628 S100PBP S100P binding protein gene DOID:9005516 Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1 ISO RGD:1604319 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset PMID:25741868 12002662 KANK4 KN motif and ankyrin repeat domains 4 gene DOID:1059 intellectual disability ISO RGD:1603552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12002662 KANK4 KN motif and ankyrin repeat domains 4 gene DOID:1184 nephrotic syndrome ISO RGD:1603552 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25961457|PMID:28492532|PMID:29127259 12002662 KANK4 KN motif and ankyrin repeat domains 4 gene DOID:630 genetic disease ISO RGD:1603552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12002676 BEST1 bestrophin 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:1323228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:25741868 12002676 BEST1 bestrophin 1 gene DOID:0050661 vitelliform macular dystrophy ISO RGD:1323228 D RGD:9068941 20230112 CTD CTD Direct Evidence: marker/mechanism 12002676 BEST1 bestrophin 1 gene DOID:0050661 vitelliform macular dystrophy ISO RGD:1323229 D RGD:9068941 20230112 MouseDO OMIM:153700 | OMIM:153840 | OMIM:608161 | OMIM:616151 | OMIM:616152 12002676 BEST1 bestrophin 1 gene DOID:0050662 bestrophinopathy ISO RGD:1323228 D RGD:7240710 20180130 OMIM 12002676 BEST1 bestrophin 1 gene DOID:0050662 bestrophinopathy ISO RGD:1323228 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy PMID:10788642|PMID:10798642|PMID:10854112|PMID:16754206|PMID:17110374|PMID:17287362|PMID:18179881|PMID:18985398|PMID:19372599|PMID:20057343|PMID:20927214|PMID:21077756|PMID:21109774|PMID:21192766|PMID:21269699|PMID:21273940|PMID:2133066|PMID:21330666|PMID:21412020|PMID:2162627|PMID:21738390|PMID:21809908|PMID:21825197|PMID:21878505|PMID:22162627|PMID:22183385|PMID:22422030|PMID:23213274|PMID:23290749|PMID:23825107|PMID:24033266|PMID:24560797|PMID:25082885|PMID:25324289|PMID:25489231|PMID:25741868|PMID:26200502|PMID:26201355|PMID:26310487|PMID:26333019|PMID:26720466|PMID:27071392|PMID:27519691|PMID:27764019|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28687848|PMID:29063836|PMID:29215532|PMID:29507198|PMID:29555955|PMID:29668979|PMID:29781975|PMID:30498755|PMID:30578502|PMID:30593719|PMID:30718709|PMID:31570112|PMID:31766397|PMID:31814694|PMID:32141364|PMID:32239196|PMID:33302512|PMID:33546218|PMID:34015078|PMID:34327816|PMID:9700209 12002676 BEST1 bestrophin 1 gene DOID:0050817 Stargardt disease ISO RGD:1323228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:10854112|PMID:16754206|PMID:18179881|PMID:21109774|PMID:21192766|PMID:21273940|PMID:21330666|PMID:21809908|PMID:21825197|PMID:23290749|PMID:25741868|PMID:26200502|PMID:26333019|PMID:27519691|PMID:28492532|PMID:29507198|PMID:30718709|PMID:32207364|PMID:33546218 12002676 BEST1 bestrophin 1 gene DOID:0110396 retinitis pigmentosa 50 ISO RGD:1323228 D RGD:7240710 20180130 OMIM 12002676 BEST1 bestrophin 1 gene DOID:0110396 retinitis pigmentosa 50 ISO RGD:1323228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 50 PMID:19853238|PMID:21330666|PMID:24560797|PMID:25741868|PMID:26418331|PMID:26716959|PMID:28492532|PMID:28559085|PMID:29847639|PMID:30582078|PMID:30718709|PMID:32239196|PMID:9700209 12002676 BEST1 bestrophin 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1323228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12002676 BEST1 bestrophin 1 gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:1323228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:28492532 12002676 BEST1 bestrophin 1 gene DOID:0111031 hemochromatosis type 5 ISO RGD:1323228 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 5 PMID:14615048|PMID:28492532 12002676 BEST1 bestrophin 1 gene DOID:0111569 autosomal dominant vitreoretinochoroidopathy ISO RGD:1323228 D RGD:7240710 20180130 OMIM 12002676 BEST1 bestrophin 1 gene DOID:0111569 autosomal dominant vitreoretinochoroidopathy ISO RGD:1323228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant vitreoretinochoroidopathy | ClinVar Annotator: match by term: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 | ClinVar Annotator: match by term: VRCP autosomal dominant PMID:10798642|PMID:10854112|PMID:11585313|PMID:12543751|PMID:13534955|PMID:14615048|PMID:15452077|PMID:16754206|PMID:17110374|PMID:17576681|PMID:18179881|PMID:18611979|PMID:19853238|PMID:21072067|PMID:21109774|PMID:21192766|PMID:21273940|PMID:21330666|PMID:21809908|PMID:21825197|PMID:22162627|PMID:22183385|PMID:22422030|PMID:23290749|PMID:24033266|PMID:25741868|PMID:25999674|PMID:26200502|PMID:26333019|PMID:26771239|PMID:27519691|PMID:27764019|PMID:28492532|PMID:28559085|PMID:28590961|PMID:28687848|PMID:29063836|PMID:29068140|PMID:29555955|PMID:29844330|PMID:29976937|PMID:30498755|PMID:30718709|PMID:33546218|PMID:9536098 12002676 BEST1 bestrophin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1323228 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10453731|PMID:10798642|PMID:10854112|PMID:11713080|PMID:14615048|PMID:16754206|PMID:17110374|PMID:17576681|PMID:17898294|PMID:18179881|PMID:19853238|PMID:21109774|PMID:21192766|PMID:21273940|PMID:21330666|PMID:21809908|PMID:21825197|PMID:22162627|PMID:22183385|PMID:22422030|PMID:23290749|PMID:24033266|PMID:24560797|PMID:25741868|PMID:26200502|PMID:26333019|PMID:27519691|PMID:27764019|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28687848|PMID:29063836|PMID:29068140|PMID:29847639|PMID:29976937|PMID:30498755|PMID:30718709|PMID:33546218|PMID:9536098 12002676 BEST1 bestrophin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1323228 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10798642|PMID:10854112|PMID:14615048|PMID:16754206|PMID:17110374|PMID:17576681|PMID:18179881|PMID:19853238|PMID:21109774|PMID:21192766|PMID:21273940|PMID:21330666|PMID:21809908|PMID:21825197|PMID:22162627|PMID:22183385|PMID:22422030|PMID:23290749|PMID:24033266|PMID:25741868|PMID:26200502|PMID:26333019|PMID:27519691|PMID:27764019|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29063836|PMID:29068140|PMID:30718709|PMID:33546218|PMID:9536098 12002676 BEST1 bestrophin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1323228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10798642|PMID:10854112|PMID:14615048|PMID:16754206|PMID:17110374|PMID:17576681|PMID:18179881|PMID:19853238|PMID:20057343|PMID:21109774|PMID:21192766|PMID:21273940|PMID:21330666|PMID:21809908|PMID:21825197|PMID:22162627|PMID:22183385|PMID:22422030|PMID:23290749|PMID:24033266|PMID:24560797|PMID:25324289|PMID:25489231|PMID:25741868|PMID:26200502|PMID:26310487|PMID:26333019|PMID:27071392|PMID:27519691|PMID:27764019|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28590961|PMID:28687848|PMID:29063836|PMID:29068140|PMID:29847639|PMID:29976937|PMID:30498755|PMID:30593719|PMID:30718709|PMID:33039401|PMID:33302512|PMID:33546218|PMID:9536098 12002676 BEST1 bestrophin 1 gene DOID:1059 intellectual disability ISO RGD:1323228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12002676 BEST1 bestrophin 1 gene DOID:4448 macular degeneration ISO RGD:1323228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:10798642|PMID:11241846|PMID:25741868|PMID:27031371|PMID:27193166|PMID:28481155|PMID:28492532|PMID:28559085|PMID:29781975|PMID:30718709|PMID:30880907|PMID:33546218 12002676 BEST1 bestrophin 1 gene DOID:630 genetic disease ISO RGD:1323228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12002676 BEST1 bestrophin 1 gene DOID:8501 fundus dystrophy ISO RGD:1323228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10331951|PMID:10394929|PMID:10788642|PMID:10798642|PMID:10854112|PMID:11585313|PMID:11756879|PMID:11904445|PMID:12565808|PMID:13129869|PMID:13534955|PMID:14205432|PMID:15452077|PMID:16286623|PMID:16754206|PMID:16769844|PMID:17065513|PMID:17110374|PMID:17576681|PMID:18179881|PMID:18289629|PMID:18844018|PMID:18985398|PMID:19375515|PMID:19597114|PMID:19853238|PMID:20375334|PMID:20381869|PMID:20927214|PMID:21072067|PMID:21109774|PMID:21192766|PMID:21269699|PMID:21273940|PMID:21320969|PMID:2133066|PMID:21330666|PMID:21436265|PMID:21473666|PMID:21809908|PMID:21825197|PMID:21878505|PMID:23213274|PMID:23290749|PMID:23825107|PMID:23880862|PMID:24560797|PMID:25082885|PMID:25174897|PMID:25489231|PMID:25741868|PMID:26200502|PMID:26201355|PMID:26333019|PMID:26418331|PMID:26720466|PMID:26771239|PMID:27078032|PMID:27193166|PMID:27519691|PMID:28041643|PMID:28225368|PMID:28492532|PMID:28559085|PMID:28687848|PMID:29115605|PMID:29555955|PMID:29668979|PMID:29781975|PMID:29847639|PMID:29976937|PMID:30498755|PMID:30582078|PMID:30593719|PMID:30718709|PMID:31519547|PMID:32239196|PMID:33546218|PMID:9536098|PMID:9662395|PMID:9700209 12002676 BEST1 bestrophin 1 gene DOID:9002891 Vitelliform Macular Dystrophy 2 ISO RGD:1323228 D RGD:7240710 20180725 OMIM 12002676 BEST1 bestrophin 1 gene DOID:9002891 Vitelliform Macular Dystrophy 2 ISO RGD:1323228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 PMID:10331951|PMID:10394929|PMID:10453731|PMID:10766140|PMID:10788642|PMID:10798642|PMID:10854112|PMID:11241846|PMID:11713080|PMID:11756879|PMID:11904445|PMID:12939260|PMID:13129869|PMID:14205432|PMID:14517959|PMID:14615048|PMID:16286623|PMID:16754206|PMID:17065513|PMID:17110374|PMID:17576681|PMID:17698758|PMID:17898294|PMID:18179881|PMID:18289629|PMID:18703557|PMID:18985398|PMID:19372599|PMID:19597114|PMID:19853238|PMID:20057903|PMID:20375334|PMID:20381869|PMID:20927214|PMID:21109774|PMID:21192766|PMID:21269699|PMID:21273940|PMID:2133066|PMID:21330666|PMID:21436265|PMID:21467170|PMID:21473666|PMID:2162627|PMID:21738390|PMID:21809908|PMID:21825197|PMID:21878505|PMID:22162627|PMID:22183385|PMID:22422030|PMID:23213274|PMID:23290749|PMID:23617333|PMID:23825107|PMID:23880862|PMID:24033266|PMID:24560797|PMID:25082885|PMID:25174897|PMID:25489231|PMID:25741868|PMID:25878489|PMID:26200502|PMID:26201355|PMID:26333019|PMID:26418331|PMID:26720466|PMID:27031371|PMID:27078032|PMID:27193166|PMID:27519691|PMID:27764019|PMID:28225368|PMID:28481155|PMID:28492532|PMID:28559085|PMID:28590961|PMID:28687848|PMID:28791410|PMID:29063836|PMID:29068140|PMID:29555955|PMID:29668979|PMID:29781975|PMID:29976937|PMID:30498755|PMID:30582078|PMID:30593719|PMID:30718709|PMID:30880907|PMID:31456290|PMID:31519547|PMID:31570112|PMID:31814694|PMID:32207364|PMID:33039401|PMID:33546218|PMID:838599|PMID:9536098|PMID:9662395|PMID:9700209 12002676 BEST1 bestrophin 1 gene DOID:9005725 Iron Overload ISO RGD:1323228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Iron Overload PMID:14615048|PMID:25741868|PMID:28492532|PMID:28687848 12002695 MAML1 mastermind like transcriptional coactivator 1 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:1318517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 12002695 MAML1 mastermind like transcriptional coactivator 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1318517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12002695 MAML1 mastermind like transcriptional coactivator 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1318517 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12002695 MAML1 mastermind like transcriptional coactivator 1 gene DOID:10283 prostate cancer ISO RGD:1318517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12002695 MAML1 mastermind like transcriptional coactivator 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1318518 D RGD:9068941 20200609 RGD protein:increased expression:spinal chord PMID:26067594|REF_RGD_ID:13524575 12002695 MAML1 mastermind like transcriptional coactivator 1 gene DOID:630 genetic disease ISO RGD:1318517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002704 PI4K2A phosphatidylinositol 4-kinase type 2 alpha gene DOID:630 genetic disease ISO RGD:1605063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002717 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:0060599 Nance-Horan syndrome ISO RGD:736556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12002717 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12002717 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:736556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12002717 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:0111042 glycogen storage disease IXa ISO RGD:736556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12002717 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:12849 autistic disorder ISO RGD:736556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12002717 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:1826 epilepsy ISO RGD:736556 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12002717 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:736556 D RGD:7240710 20180130 OMIM 12002717 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:736556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency PMID:10679936|PMID:1301207|PMID:1338114|PMID:15384102|PMID:15473177|PMID:1779625|PMID:1909778|PMID:20002125|PMID:20002461|PMID:20691944|PMID:21846590|PMID:21914562|PMID:23021068|PMID:23871722|PMID:24718837|PMID:25590979|PMID:25741868|PMID:26467025|PMID:26865159|PMID:28492532|PMID:28639102|PMID:28918066|PMID:29756269|PMID:7692352|PMID:7887409|PMID:7981697|PMID:8032855|PMID:8504309|PMID:8598634|PMID:8962591 12002717 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:3650 lactic acidosis ISO RGD:736556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2537010 12002717 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:736556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12002717 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:630 genetic disease ISO RGD:736556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10679936|PMID:10767328|PMID:10872106|PMID:12651851|PMID:1293379|PMID:1301207|PMID:1338114|PMID:15384102|PMID:15473177|PMID:1779625|PMID:1909778|PMID:19517265|PMID:20002125|PMID:20002461|PMID:21846590|PMID:21914562|PMID:23021068|PMID:23871722|PMID:24718837|PMID:25495354|PMID:25590979|PMID:25741868|PMID:26467025|PMID:26865159|PMID:28492532|PMID:28918066|PMID:29756269|PMID:29970614|PMID:3034892|PMID:7692352|PMID:7887409|PMID:7981697|PMID:8032855|PMID:8504309|PMID:8598634|PMID:9671272 12002717 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:8398 osteoarthritis ISO RGD:736556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12002717 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:736556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12002717 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9000918 Disease Progression ISO RGD:736556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12002717 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:736556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:10486093|PMID:10679936|PMID:10767328|PMID:10775534|PMID:11102541|PMID:11241048|PMID:12379317|PMID:12551913|PMID:1293379|PMID:1301207|PMID:1338114|PMID:1508605|PMID:15384102|PMID:15473177|PMID:16199547|PMID:16713755|PMID:17043409|PMID:17172462|PMID:1770778|PMID:1779625|PMID:18023225|PMID:18197404|PMID:1907799|PMID:1909401|PMID:1909778|PMID:19639391|PMID:20002125|PMID:20002461|PMID:20591708|PMID:20691944|PMID:21846590|PMID:21914562|PMID:22142326|PMID:22473288|PMID:23021068|PMID:23871722|PMID:24718837|PMID:25326635|PMID:25356417|PMID:25495354|PMID:25590979|PMID:25741868|PMID:25741876|PMID:26467025|PMID:26633542|PMID:26865159|PMID:26987331|PMID:27896109|PMID:2828359|PMID:28492532|PMID:28639102|PMID:28918066|PMID:29756269|PMID:29882371|PMID:3034892|PMID:3137520|PMID:31673819|PMID:32005694|PMID:7573035|PMID:7692352|PMID:7887409|PMID:7981697|PMID:8024267|PMID:8032855|PMID:8199595|PMID:8504306|PMID:8504309|PMID:8598634|PMID:8771169|PMID:8844217|PMID:8962591|PMID:9266390|PMID:9618178|PMID:9671272|PMID:9686362 12002717 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881|PMID:29335542 12002717 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9002994 Pyruvate Metabolism, Inborn Errors ISO RGD:736556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2378353 12002717 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12002717 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9005926 Leigh Syndrome, X-Linked ISO RGD:736556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: X-linked Leigh syndrome PMID:10679936|PMID:1301207|PMID:15384102|PMID:15473177|PMID:20002125|PMID:25590979|PMID:25741868|PMID:28492532|PMID:7887409 12002717 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9007 sudden infant death syndrome ISO RGD:736556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:20002125|PMID:20002461|PMID:24718837|PMID:25741868|PMID:28492532|PMID:28639102|PMID:8962591 12002717 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:736556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12002732 BOLL boule homolog, RNA binding protein gene DOID:630 genetic disease ISO RGD:1352689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002732 BOLL boule homolog, RNA binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12002732 BOLL boule homolog, RNA binding protein gene DOID:9008443 Colorectal Neoplasms ISO RGD:1352689 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 12002762 BTBD3 BTB domain containing 3 gene DOID:630 genetic disease ISO RGD:1323177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002776 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B ISO RGD:732599 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome PMID:25741868|PMID:28492532 12002776 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:0090022 split hand-foot malformation 5 ISO RGD:732599 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12002776 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:0110662 congenital myasthenic syndrome 1B ISO RGD:732599 D RGD:7240710 20180214 OMIM 12002776 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:0110662 congenital myasthenic syndrome 1B ISO RGD:732599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 1B, fast-channel PMID:10195214|PMID:12588888|PMID:15079006|PMID:18806275|PMID:25741868|PMID:28492532|PMID:7254233 12002776 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:0110663 congenital myasthenic syndrome 1A ISO RGD:732599 D RGD:7240710 20180130 OMIM 12002776 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:0110663 congenital myasthenic syndrome 1A ISO RGD:732599 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: CHRNA1-Related Congenital Myasthenic Syndrome | ClinVar Annotator: match by term: Congenital myasthenic syndrome 1A PMID:16685696|PMID:22406191|PMID:22678886|PMID:25741868|PMID:28492532|PMID:29054425|PMID:3651795|PMID:6287911|PMID:7619526|PMID:7863154|PMID:8872460|PMID:9158151|PMID:9221765 12002776 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:12849 autistic disorder ISO RGD:732599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism PMID:24121633|PMID:25741868|PMID:26467025|PMID:27748205|PMID:28492532 12002776 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:1826 epilepsy ISO RGD:732599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure 12002776 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:3635 congenital myasthenic syndrome ISO RGD:732599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital PMID:24033266|PMID:25450229|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33216040|PMID:9221765 12002776 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:732599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Juvenile myoclonic epilepsy PMID:25741868|PMID:28492532 12002776 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:630 genetic disease ISO RGD:732599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:9221765 12002776 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9000784 Fibrosis ISO RGD:732599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19690163 12002776 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9004016 Wiskott-Aldrich Syndrome 2 ISO RGD:732599 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2 PMID:28492532 12002776 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9005883 Pleural Effusion ISO RGD:732599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleural effusion PMID:25741868|PMID:28492532|PMID:30177536|PMID:31680349 12002776 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9005962 Multiple Pterygium Syndrome, Lethal Type ISO RGD:732599 D RGD:7240710 20180130 OMIM 12002776 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9005962 Multiple Pterygium Syndrome, Lethal Type ISO RGD:732599 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:10195214|PMID:14719537|PMID:15907919|PMID:16199547|PMID:17576681|PMID:18252226|PMID:18806275|PMID:22406191|PMID:22728938|PMID:23037934|PMID:24121633|PMID:25348405|PMID:25450229|PMID:25741868|PMID:25741885|PMID:26467025|PMID:27748205|PMID:28492532|PMID:29054425|PMID:29395675|PMID:30177536|PMID:31680349|PMID:33216040|PMID:6287911|PMID:7619526|PMID:7863154|PMID:8872460|PMID:9158151|PMID:9221765|PMID:9536098 12002776 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9006988 Congenital Myasthenic Syndrome, Fast-Channel ISO RGD:732599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12002776 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis treatment ISO RGD:732599 D RGD:9068941 20200609 RGD PMID:10606626|REF_RGD_ID:704386 12002776 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9008386 Hydrops Fetalis ISO RGD:732599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 12002796 SLC45A2 solute carrier family 45 member 2 gene DOID:0050632 oculocutaneous albinism ISO RGD:1315452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:25741868|PMID:28492532 12002796 SLC45A2 solute carrier family 45 member 2 gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:1315452 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:25741868|PMID:28492532 12002796 SLC45A2 solute carrier family 45 member 2 gene DOID:0070098 oculocutaneous albinism type IV ISO RGD:1315452 D RGD:7240710 20180130 OMIM 12002796 SLC45A2 solute carrier family 45 member 2 gene DOID:0070098 oculocutaneous albinism type IV ISO RGD:1315452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism type 4 PMID:11574907|PMID:14070830|PMID:14722913|PMID:14961451|PMID:15565285|PMID:15714523|PMID:16162179|PMID:16868655|PMID:17044855|PMID:17768386|PMID:21458243|PMID:23165166|PMID:24096233|PMID:24617981|PMID:24845642|PMID:25741868|PMID:26573111|PMID:26818737|PMID:27019209|PMID:27706749|PMID:27734839|PMID:28457509|PMID:28492532|PMID:28976636|PMID:29345414|PMID:30019506|PMID:31229681 12002796 SLC45A2 solute carrier family 45 member 2 gene DOID:0111068 congenital bile acid synthesis defect 4 ISO RGD:1315452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 PMID:25741868|PMID:28492532 12002796 SLC45A2 solute carrier family 45 member 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1315452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578363 12002796 SLC45A2 solute carrier family 45 member 2 gene DOID:1909 melanoma ISO RGD:1315452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18563784|PMID:21559390 12002796 SLC45A2 solute carrier family 45 member 2 gene DOID:2213 hemorrhagic disease ISO RGD:1315452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:28492532|PMID:29345414 12002796 SLC45A2 solute carrier family 45 member 2 gene DOID:2513 basal cell carcinoma ISO RGD:1315452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578363 12002796 SLC45A2 solute carrier family 45 member 2 gene DOID:303 substance-related disorder ISO RGD:1315452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12002796 SLC45A2 solute carrier family 45 member 2 gene DOID:630 genetic disease ISO RGD:1315452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24096233|PMID:25741868|PMID:27734839|PMID:28492532 12002796 SLC45A2 solute carrier family 45 member 2 gene DOID:8923 skin melanoma ISO RGD:1315452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:15714523|PMID:17044855|PMID:17999355|PMID:18563784|PMID:18683857|PMID:19578363|PMID:28492532 12002796 SLC45A2 solute carrier family 45 member 2 gene DOID:9003119 Nonsyndromic Oculocutaneous Albinism ISO RGD:1315452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism PMID:18821858|PMID:25741868|PMID:28266639|PMID:28492532|PMID:30868578 12002796 SLC45A2 solute carrier family 45 member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12002796 SLC45A2 solute carrier family 45 member 2 gene DOID:9006017 Skin/Hair/Eye Pigmentation, Variation In, 5 ISO RGD:1315452 D RGD:7240710 20200506 OMIM 12002796 SLC45A2 solute carrier family 45 member 2 gene DOID:9006017 Skin/Hair/Eye Pigmentation, Variation In, 5 ISO RGD:1315452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 5 PMID:15714523|PMID:17044855|PMID:17768386|PMID:17999355|PMID:18463683|PMID:18563784|PMID:18683857|PMID:19578363|PMID:21458243|PMID:24096233|PMID:25741868|PMID:26573111|PMID:27734839|PMID:28492532|PMID:29345414 12002796 SLC45A2 solute carrier family 45 member 2 gene DOID:9008459 Neurogenic Arthrogryposis Multiplex Congenita 4 with Agenesis of the Corpus Callosum ISO RGD:12064380 D RGD:9068941 20230128 OMIA Coat colour, albinism, oculocutaneous type IV PMID:24647637|PMID:25790827|PMID:28737247|PMID:34751460|PMID:35510419 12002808 SLC5A6 solute carrier family 5 member 6 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:69654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12002808 SLC5A6 solute carrier family 5 member 6 gene DOID:630 genetic disease ISO RGD:69654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002808 SLC5A6 solute carrier family 5 member 6 gene DOID:9001105 NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE ISO RGD:69654 D RGD:7240710 20201216 OMIM 12002808 SLC5A6 solute carrier family 5 member 6 gene DOID:9001105 NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE ISO RGD:69654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration, infantile-onset, biotin-responsive PMID:25741868|PMID:27904971|PMID:28492532|PMID:31392107|PMID:31754459|PMID:35013551|PMID:35217562 12002808 SLC5A6 solute carrier family 5 member 6 gene DOID:9003994 PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE ISO RGD:69654 D RGD:7240710 20220810 OMIM 12002808 SLC5A6 solute carrier family 5 member 6 gene DOID:9003994 PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE ISO RGD:69654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral motor neuropathy, childhood-onset, biotin-responsive PMID:25741868|PMID:27904971|PMID:28492532|PMID:31754459|PMID:35013551 12002842 GNS glucosamine (N-acetyl)-6-sulfatase gene DOID:0111402 mucopolysaccharidosis type IIID ISO RGD:1314172 D RGD:7240710 20191106 OMIM 12002842 GNS glucosamine (N-acetyl)-6-sulfatase gene DOID:0111402 mucopolysaccharidosis type IIID ISO RGD:1314172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D PMID:12573255|PMID:12624138|PMID:16199547|PMID:16990043|PMID:17576681|PMID:17998446|PMID:19650410|PMID:19763152|PMID:20232353|PMID:20307669|PMID:22406018|PMID:25640679|PMID:25741868|PMID:28492532|PMID:30809705|PMID:3100754|PMID:34349725|PMID:6450420|PMID:9536098 12002842 GNS glucosamine (N-acetyl)-6-sulfatase gene DOID:12801 mucopolysaccharidosis III ISO RGD:1314172 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sanfilippo syndrome PMID:16199547|PMID:17576681|PMID:20232353|PMID:25741868|PMID:28492532|PMID:9536098 12002842 GNS glucosamine (N-acetyl)-6-sulfatase gene DOID:12849 autistic disorder ISO RGD:1314172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868|PMID:28492532 12002842 GNS glucosamine (N-acetyl)-6-sulfatase gene DOID:630 genetic disease ISO RGD:1314172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12002887 POLR1G RNA polymerase I subunit G gene DOID:0080914 cerebrooculofacioskeletal syndrome 4 ISO RGD:1606023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 PMID:25741868|PMID:28492532|PMID:33116287 12002887 POLR1G RNA polymerase I subunit G gene DOID:630 genetic disease ISO RGD:1606023 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002894 YAF2 YY1 associated factor 2 gene DOID:13938 amenorrhea ISO RGD:1314010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12002894 YAF2 YY1 associated factor 2 gene DOID:630 genetic disease ISO RGD:1314010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002914 CDC23 cell division cycle 23 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1312484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12002914 CDC23 cell division cycle 23 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1312484 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12002914 CDC23 cell division cycle 23 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1312484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 12002914 CDC23 cell division cycle 23 gene DOID:630 genetic disease ISO RGD:1312484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002914 CDC23 cell division cycle 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12002914 CDC23 cell division cycle 23 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1312484 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12002938 TERT telomerase reverse transcriptase gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1353510 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form PMID:12629597|PMID:15814878|PMID:15885610|PMID:16199547|PMID:16247010|PMID:16627250|PMID:16990594|PMID:17264120|PMID:17392301|PMID:17460043|PMID:17576681|PMID:17785587|PMID:18042801|PMID:18460650|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20022961|PMID:20502709|PMID:20871597|PMID:20966039|PMID:21258621|PMID:21483807|PMID:21520173|PMID:21520174|PMID:21543794|PMID:21602826|PMID:21635204|PMID:21931702|PMID:22037553|PMID:22364217|PMID:22476886|PMID:22512499|PMID:22664374|PMID:22853774|PMID:22863003|PMID:23066086|PMID:23258901|PMID:23335200|PMID:23348503|PMID:23535731|PMID:23538340|PMID:23716176|PMID:23901009|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25346280|PMID:25365545|PMID:25562321|PMID:25612863|PMID:25640679|PMID:25741868|PMID:25785092|PMID:2602487|PMID:26024875|PMID:26136524|PMID:26158642|PMID:26194807|PMID:26329388|PMID:26365799|PMID:26433962|PMID:26580448|PMID:26887940|PMID:27159321|PMID:27354474|PMID:27418648|PMID:27540018|PMID:27836952|PMID:27848944|PMID:28099038|PMID:28102861|PMID:28104920|PMID:28154186|PMID:28192371|PMID:28492532|PMID:28495692|PMID:28677271|PMID:28813500|PMID:28873162|PMID:29036293|PMID:29382801|PMID:29463756|PMID:29483670|PMID:29625052|PMID:29749397|PMID:30426156|PMID:30523342|PMID:30791107|PMID:30995915|PMID:31265491|PMID:31268371|PMID:31395865|PMID:32150348|PMID:32315675|PMID:33709208|PMID:33718801|PMID:34019641|PMID:9536098 12002938 TERT telomerase reverse transcriptase gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1353510 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form PMID:12629597|PMID:15814878|PMID:15885610|PMID:16199547|PMID:16247010|PMID:16627250|PMID:16990594|PMID:17264120|PMID:17392301|PMID:17460043|PMID:17576681|PMID:17785587|PMID:18042801|PMID:18460650|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20022961|PMID:20502709|PMID:20871597|PMID:20966039|PMID:21258621|PMID:21436073|PMID:21483807|PMID:21520173|PMID:21520174|PMID:21543794|PMID:21602826|PMID:21635204|PMID:21931702|PMID:22037553|PMID:22364217|PMID:22476886|PMID:22512499|PMID:22664374|PMID:22853774|PMID:22863003|PMID:23066086|PMID:23258901|PMID:23335200|PMID:23348503|PMID:23535731|PMID:23538340|PMID:23716176|PMID:23901009|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25346280|PMID:25365545|PMID:25562321|PMID:25612863|PMID:25640679|PMID:25741868|PMID:25785092|PMID:2602487|PMID:26024875|PMID:26136524|PMID:26158642|PMID:26194807|PMID:26329388|PMID:26365799|PMID:26433962|PMID:26580448|PMID:26887940|PMID:27159321|PMID:27354474|PMID:27418648|PMID:27540018|PMID:27836952|PMID:27848944|PMID:27854218|PMID:28099038|PMID:28102861|PMID:28104920|PMID:28154186|PMID:28192371|PMID:28492532|PMID:28495692|PMID:28677271|PMID:28813500|PMID:28873162|PMID:29036293|PMID:29382801|PMID:29463756|PMID:29483670|PMID:29625052|PMID:29749397|PMID:30426156|PMID:30523342|PMID:30791107|PMID:30995915|PMID:31268371|PMID:31395865|PMID:32150348|PMID:32315675|PMID:33709208|PMID:33718801|PMID:34019641|PMID:34890115|PMID:9536098 12002938 TERT telomerase reverse transcriptase gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1353510 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial idiopathic pulmonary fibrosis | ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form PMID:12629597|PMID:15814878|PMID:15885610|PMID:16199547|PMID:16247010|PMID:16332973|PMID:16627250|PMID:16990594|PMID:17264120|PMID:17392301|PMID:17460043|PMID:17576681|PMID:17785587|PMID:18042801|PMID:18302718|PMID:18460650|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19489057|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20022961|PMID:20044353|PMID:20301779|PMID:20502709|PMID:20858879|PMID:20871597|PMID:20966039|PMID:21258621|PMID:21436073|PMID:21483807|PMID:21520173|PMID:21520174|PMID:21543794|PMID:21602826|PMID:21635204|PMID:21931702|PMID:22037553|PMID:22364217|PMID:22424236|PMID:22476886|PMID:22512499|PMID:22664374|PMID:22853774|PMID:22863003|PMID:23066086|PMID:23258901|PMID:23335200|PMID:23348503|PMID:23535731|PMID:23538340|PMID:23716176|PMID:23901009|PMID:23905534|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25346280|PMID:25365545|PMID:25393420|PMID:25562321|PMID:25612863|PMID:25640679|PMID:25741868|PMID:25785092|PMID:2602487|PMID:26024875|PMID:26136524|PMID:26158642|PMID:26194807|PMID:26329388|PMID:26365799|PMID:26433962|PMID:26580448|PMID:26887940|PMID:27159321|PMID:27354474|PMID:27418648|PMID:27540018|PMID:27836952|PMID:27848944|PMID:28099038|PMID:28102861|PMID:28104920|PMID:28154186|PMID:28192371|PMID:28492532|PMID:28495683|PMID:28495692|PMID:28677271|PMID:28813500|PMID:28818973|PMID:28873162|PMID:29036293|PMID:29382801|PMID:29463756|PMID:29483670|PMID:29625052|PMID:29749397|PMID:30426156|PMID:30523342|PMID:30603600|PMID:30791107|PMID:30995915|PMID:31268371|PMID:31395865|PMID:32150348|PMID:32315675|PMID:33035329|PMID:33709208|PMID:33718801|PMID:34019641|PMID:34890115|PMID:9536098 12002938 TERT telomerase reverse transcriptase gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1353510 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:15814878|PMID:16199547|PMID:16247010|PMID:17392301|PMID:17460043|PMID:17785587|PMID:18302718|PMID:18460650|PMID:19561322|PMID:19760749|PMID:19796246|PMID:20022961|PMID:20301779|PMID:20502709|PMID:21436073|PMID:21520174|PMID:21543794|PMID:22364217|PMID:22853774|PMID:22863003|PMID:23335200|PMID:23538340|PMID:23901009|PMID:24033266|PMID:24833766|PMID:25271372|PMID:25365545|PMID:25741868|PMID:26024875|PMID:26136524|PMID:26365799|PMID:27540018|PMID:27622320|PMID:27836952|PMID:28102861|PMID:28154186|PMID:28492532|PMID:28495683|PMID:28677271|PMID:28813500|PMID:29036293|PMID:29483670|PMID:30523342|PMID:30603600|PMID:31268371 12002938 TERT telomerase reverse transcriptase gene DOID:0050685 small cell carcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20211217 RGD DNA:SNP: :rs2736098(human) PMID:24761905|REF_RGD_ID:150530628 12002938 TERT telomerase reverse transcriptase gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20211217 RGD DNA:SNPs: :rs2736100,rs2736098(human) PMID:28025427|REF_RGD_ID:150530487 12002938 TERT telomerase reverse transcriptase gene DOID:0050908 myelodysplastic syndrome ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myelodysplasia PMID:25741868|PMID:28492532|PMID:29463756|PMID:33718801 12002938 TERT telomerase reverse transcriptase gene DOID:0050908 myelodysplastic syndrome severity ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:19270495|REF_RGD_ID:11038661 12002938 TERT telomerase reverse transcriptase gene DOID:0060074 ductal carcinoma in situ ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast PMID:15010825|REF_RGD_ID:2291992 12002938 TERT telomerase reverse transcriptase gene DOID:0060645 chronic recurrent multifocal osteomyelitis ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic osteomyelitis PMID:16890917|PMID:28492532 12002938 TERT telomerase reverse transcriptase gene DOID:0070004 myeloid neoplasm ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29047144 12002938 TERT telomerase reverse transcriptase gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1353510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:12167716|PMID:15885610|PMID:16247010|PMID:18042801|PMID:18635888|PMID:18931339|PMID:20301779|PMID:21602826|PMID:23901009|PMID:24033266|PMID:25365545|PMID:25741868|PMID:26360549|PMID:27418648|PMID:28154186|PMID:28492532|PMID:30523342 12002938 TERT telomerase reverse transcriptase gene DOID:0070015 autosomal recessive dyskeratosis congenita 1 ISO RGD:1353510 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 PMID:17785587|PMID:20301779|PMID:25741868|PMID:26887940|PMID:28192371|PMID:28492532|PMID:30603600 12002938 TERT telomerase reverse transcriptase gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1353510 D RGD:7240710 20180919 OMIM 12002938 TERT telomerase reverse transcriptase gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1353510 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12167716|PMID:12629597|PMID:15814878|PMID:15885610|PMID:16199547|PMID:16247010|PMID:16332973|PMID:16627250|PMID:17264120|PMID:17392301|PMID:17460043|PMID:17576681|PMID:17785587|PMID:18042801|PMID:18302718|PMID:18460650|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19489057|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20022961|PMID:20044353|PMID:20301779|PMID:20502709|PMID:20858879|PMID:20871597|PMID:20966039|PMID:21258621|PMID:21349926|PMID:21436073|PMID:21483807|PMID:21520173|PMID:21520174|PMID:21543794|PMID:21602826|PMID:21635204|PMID:21931702|PMID:22037553|PMID:22364217|PMID:22424236|PMID:22476886|PMID:22512499|PMID:22664374|PMID:22853774|PMID:22863003|PMID:23066086|PMID:23258901|PMID:23335200|PMID:23348503|PMID:23535731|PMID:23538340|PMID:23716176|PMID:23901009|PMID:23905534|PMID:24033266|PMID:24833766|PMID:24983628|PMID:25108601|PMID:25244922|PMID:25271372|PMID:25365545|PMID:25393420|PMID:25562321|PMID:25612863|PMID:25640679|PMID:25741868|PMID:25785092|PMID:26024875|PMID:26136524|PMID:26158642|PMID:26194807|PMID:26360549|PMID:26365799|PMID:26433962|PMID:26580448|PMID:26859482|PMID:26887940|PMID:27159321|PMID:27192671|PMID:27354474|PMID:27418648|PMID:27540018|PMID:27622320|PMID:27824607|PMID:27836952|PMID:27848944|PMID:28099038|PMID:28102861|PMID:28104920|PMID:28154186|PMID:28192371|PMID:28492532|PMID:28495683|PMID:28677271|PMID:28767289|PMID:28813500|PMID:28818973|PMID:28873162|PMID:29036293|PMID:29146883|PMID:29382801|PMID:29463756|PMID:29483670|PMID:29625052|PMID:29749397|PMID:30203795|PMID:30426156|PMID:30523342|PMID:30791107|PMID:30995915|PMID:31119896|PMID:31268371|PMID:31395865|PMID:32315675|PMID:33035329|PMID:33709208|PMID:33718801|PMID:34019641|PMID:34565437|PMID:34890115|PMID:9536098 12002938 TERT telomerase reverse transcriptase gene DOID:0070021 autosomal recessive dyskeratosis congenita 4 ISO RGD:1353510 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive dyskeratosis congenita 4 PMID:15814878|PMID:17785587|PMID:18042801|PMID:18635888|PMID:18753630|PMID:18931339|PMID:20301779|PMID:20502709|PMID:21258621|PMID:21602826|PMID:23901009|PMID:23905534|PMID:24033266|PMID:25365545|PMID:25741868|PMID:26887940|PMID:27418648|PMID:28192371|PMID:28492532|PMID:30523342|PMID:30603600|PMID:34890115 12002938 TERT telomerase reverse transcriptase gene DOID:10283 prostate cancer ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:increased expression:plasma PMID:17108213|REF_RGD_ID:2291990 12002938 TERT telomerase reverse transcriptase gene DOID:10325 silicosis ISO RGD:70494 D RGD:9068941 20220609 RGD mRNA:increased expression:lung (rat) PMID:29230030|REF_RGD_ID:152977761 12002938 TERT telomerase reverse transcriptase gene DOID:1037 lymphoid leukemia ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24292274 12002938 TERT telomerase reverse transcriptase gene DOID:10485 esophageal atresia ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 12002938 TERT telomerase reverse transcriptase gene DOID:10534 stomach cancer ISO RGD:1353510 D RGD:9068941 20220602 RGD mRNA:increased expression:mucosa of stomach PMID:16696344|REF_RGD_ID:152977754 12002938 TERT telomerase reverse transcriptase gene DOID:10907 microcephaly ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12002938 TERT telomerase reverse transcriptase gene DOID:11054 urinary bladder cancer ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19151717 12002938 TERT telomerase reverse transcriptase gene DOID:11054 urinary bladder cancer ISO RGD:1353510 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:17644139|REF_RGD_ID:2291986 12002938 TERT telomerase reverse transcriptase gene DOID:12241 beta thalassemia ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow PMID:18466174|REF_RGD_ID:11038664 12002938 TERT telomerase reverse transcriptase gene DOID:12449 aplastic anemia ISO RGD:1353510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aplastic anemia PMID:12167716|PMID:15814878|PMID:15885610|PMID:16332973|PMID:16627250|PMID:17460043|PMID:18042801|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19489057|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20044353|PMID:20301779|PMID:20502709|PMID:20858879|PMID:20966039|PMID:21258621|PMID:21520173|PMID:21602826|PMID:21635204|PMID:21931702|PMID:22424236|PMID:22476886|PMID:23538340|PMID:23716176|PMID:23901009|PMID:23905534|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25741868|PMID:25785092|PMID:26024875|PMID:26136524|PMID:26158642|PMID:26360549|PMID:26365799|PMID:27354474|PMID:27540018|PMID:27848944|PMID:28104920|PMID:28154186|PMID:28492532|PMID:28677271|PMID:28813500|PMID:29146883|PMID:29625052|PMID:30523342 12002938 TERT telomerase reverse transcriptase gene DOID:12580 Cri-du-Chat syndrome ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12629597 12002938 TERT telomerase reverse transcriptase gene DOID:1319 brain cancer ameliorates ISO RGD:1353510 D RGD:9068941 20220609 RGD DNA:SNP:cds:rs2736100 (human) PMID:26014354|REF_RGD_ID:152985535 12002938 TERT telomerase reverse transcriptase gene DOID:1324 lung cancer ISO RGD:1353510 D RGD:9068941 20220603 RGD mRNA:increased expression:lung PMID:10969652|REF_RGD_ID:152977758 12002938 TERT telomerase reverse transcriptase gene DOID:14566 disease of cellular proliferation ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25261935 12002938 TERT telomerase reverse transcriptase gene DOID:1612 breast cancer ISO RGD:1353510 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:20301779|PMID:24033266|PMID:25741868|PMID:28492532 12002938 TERT telomerase reverse transcriptase gene DOID:1793 pancreatic cancer ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25086665|PMID:26098869 12002938 TERT telomerase reverse transcriptase gene DOID:1883 hepatitis C disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:24634940|REF_RGD_ID:14696782 12002938 TERT telomerase reverse transcriptase gene DOID:1884 viral hepatitis disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:17212643|REF_RGD_ID:14696781 12002938 TERT telomerase reverse transcriptase gene DOID:1909 melanoma ISO RGD:1353510 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:20856939 12002938 TERT telomerase reverse transcriptase gene DOID:1909 melanoma ISO RGD:1353510 D RGD:9068941 20220512 RGD mRNA:increased expression:plasma PMID:14654933|REF_RGD_ID:2291969 12002938 TERT telomerase reverse transcriptase gene DOID:1909 melanoma ISO RGD:1353510 D RGD:9068941 20220610 RGD DNA:SNP:cds:rs455433|rs2736100 (human) PMID:25231748|REF_RGD_ID:152995261 12002938 TERT telomerase reverse transcriptase gene DOID:1967 leiomyosarcoma ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:increased expression:myometrium PMID:10652422|REF_RGD_ID:2298564 12002938 TERT telomerase reverse transcriptase gene DOID:2154 nephroblastoma disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:16172460|REF_RGD_ID:2291966 12002938 TERT telomerase reverse transcriptase gene DOID:224 transient cerebral ischemia treatment ISO RGD:70494 D RGD:9068941 20200609 RGD PMID:21914402|REF_RGD_ID:11038669 12002938 TERT telomerase reverse transcriptase gene DOID:234 colon adenocarcinoma treatment ISO RGD:70505 D RGD:9068941 20200609 RGD PMID:19903903|REF_RGD_ID:11038656 12002938 TERT telomerase reverse transcriptase gene DOID:2361 macrocytic anemia ISO RGD:1353510 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Macrocytic anemia PMID:25741868|PMID:28099038|PMID:28492532|PMID:33035329 12002938 TERT telomerase reverse transcriptase gene DOID:2513 basal cell carcinoma ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19151717 12002938 TERT telomerase reverse transcriptase gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:70505 D RGD:9068941 20200609 RGD PMID:19903903|REF_RGD_ID:11038656 12002938 TERT telomerase reverse transcriptase gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:increased expression:urine, urothelial cell PMID:17961306|REF_RGD_ID:2291982 12002938 TERT telomerase reverse transcriptase gene DOID:2729 dyskeratosis congenita ISO RGD:1353510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:15814878|PMID:15885610|PMID:16199547|PMID:16247010|PMID:16332973|PMID:16627250|PMID:17460043|PMID:17576681|PMID:17785587|PMID:18042801|PMID:18302718|PMID:18460650|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19489057|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20044353|PMID:20301779|PMID:20502709|PMID:20858879|PMID:20871597|PMID:20966039|PMID:21258621|PMID:21520173|PMID:21520174|PMID:21602826|PMID:21635204|PMID:21931702|PMID:22037553|PMID:22364217|PMID:22424236|PMID:22476886|PMID:22512499|PMID:22853774|PMID:23066086|PMID:23348503|PMID:23535731|PMID:23538340|PMID:23716176|PMID:23901009|PMID:23905534|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25365545|PMID:25393420|PMID:25562321|PMID:25741868|PMID:25785092|PMID:26024875|PMID:26136524|PMID:26158642|PMID:26194807|PMID:26433962|PMID:26580448|PMID:26859482|PMID:27159321|PMID:27354474|PMID:27418648|PMID:27540018|PMID:27848944|PMID:28099038|PMID:28102861|PMID:28104920|PMID:28154186|PMID:28492532|PMID:28495683|PMID:28818973|PMID:28873162|PMID:29146883|PMID:29483670|PMID:29625052|PMID:30523342|PMID:30603600|PMID:30791107|PMID:30995915|PMID:31119896|PMID:31395865|PMID:33035329|PMID:33718801|PMID:34019641|PMID:9536098 12002938 TERT telomerase reverse transcriptase gene DOID:3070 high grade glioma ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18021753|PMID:19578367 12002938 TERT telomerase reverse transcriptase gene DOID:3082 interstitial lung disease ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease PMID:25741868|PMID:28492532|PMID:31268371 12002938 TERT telomerase reverse transcriptase gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1353510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease PMID:25741868|PMID:28492532 12002938 TERT telomerase reverse transcriptase gene DOID:3307 teratoma ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:decreased expression PMID:12168080|REF_RGD_ID:2298558 12002938 TERT telomerase reverse transcriptase gene DOID:3355 fibrosarcoma treatment ISO RGD:70505 D RGD:9068941 20200609 RGD PMID:19903903|REF_RGD_ID:11038656 12002938 TERT telomerase reverse transcriptase gene DOID:3393 coronary artery disease ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16890917 12002938 TERT telomerase reverse transcriptase gene DOID:3459 breast carcinoma ISO RGD:1353510 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:15814878|PMID:17460043|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19760749|PMID:19796246|PMID:20301779|PMID:20966039|PMID:21520173|PMID:21635204|PMID:22476886|PMID:23538340|PMID:23901009|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25741868|PMID:28154186|PMID:28492532 12002938 TERT telomerase reverse transcriptase gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1353510 D RGD:9068941 20220603 RGD mRNA:increased expression:esophagus squamous epithelium: PMID:15112252|REF_RGD_ID:152977757 12002938 TERT telomerase reverse transcriptase gene DOID:3748 esophagus squamous cell carcinoma no_association ISO RGD:1353510 D RGD:9068941 20211217 RGD DNA:SNP: :rs2736098(human) PMID:25007268|REF_RGD_ID:150530488 12002938 TERT telomerase reverse transcriptase gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20211217 RGD DNA:SNPs: : rs2853691,rs2736100(human) PMID:26716642|REF_RGD_ID:11572962 12002938 TERT telomerase reverse transcriptase gene DOID:3770 pulmonary fibrosis ISO RGD:1353510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:12167716|PMID:15814878|PMID:15885610|PMID:16247010|PMID:17264120|PMID:17392301|PMID:17460043|PMID:18042801|PMID:18302718|PMID:18460650|PMID:18635888|PMID:18931339|PMID:19760749|PMID:19796246|PMID:20022961|PMID:20044353|PMID:20301779|PMID:20502709|PMID:21349926|PMID:21483807|PMID:21543794|PMID:21602826|PMID:21931702|PMID:22364217|PMID:22664374|PMID:22853774|PMID:22863003|PMID:23538340|PMID:23901009|PMID:24033266|PMID:25271372|PMID:25365545|PMID:25562321|PMID:25741868|PMID:26024875|PMID:26360549|PMID:26859482|PMID:27418648|PMID:27540018|PMID:28099038|PMID:28102861|PMID:28154186|PMID:28192371|PMID:28492532|PMID:29483670|PMID:30523342|PMID:30995915|PMID:31268371|PMID:33035329|PMID:33718801|PMID:34890115 12002938 TERT telomerase reverse transcriptase gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20211217 RGD DNA:SNP:: rs2853669(human) PMID:23908149|REF_RGD_ID:150530498 12002938 TERT telomerase reverse transcriptase gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20211224 RGD DNA:SNP::rs33963617(human) PMID:31935503|REF_RGD_ID:150530635 12002938 TERT telomerase reverse transcriptase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21252717 12002938 TERT telomerase reverse transcriptase gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1353510 D RGD:9068941 20211224 RGD DNA:SNP: :rs2736098(human) PMID:24679952|REF_RGD_ID:150530644 12002938 TERT telomerase reverse transcriptase gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1353510 D RGD:9068941 20211224 RGD DNA:SNPs, haplotype: :rs2853669,rs2736108(human) PMID:27982019|REF_RGD_ID:150530632 12002938 TERT telomerase reverse transcriptase gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20211217 RGD DNA:SNP: :rs2736098(human) PMID:23738012|PMID:24761905|REF_RGD_ID:150530485|REF_RGD_ID:150530628 12002938 TERT telomerase reverse transcriptase gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20211217 RGD DNA:SNP:: rs2736100(human) PMID:19955392|REF_RGD_ID:150530502 12002938 TERT telomerase reverse transcriptase gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20211217 RGD DNA:SNPs:: rs2853669,rs2736108(human) PMID:23908149|REF_RGD_ID:150530498 12002938 TERT telomerase reverse transcriptase gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20211224 RGD DNA:SNP::rs33963617(human) PMID:31935503|REF_RGD_ID:150530635 12002938 TERT telomerase reverse transcriptase gene DOID:3948 adrenocortical carcinoma ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747642 12002938 TERT telomerase reverse transcriptase gene DOID:4450 renal cell carcinoma ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:18250061|REF_RGD_ID:2291980 12002938 TERT telomerase reverse transcriptase gene DOID:4948 gallbladder carcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20211217 RGD DNA:SNP, haplotype: :rs2736100(human) PMID:29450669|REF_RGD_ID:150530629 12002938 TERT telomerase reverse transcriptase gene DOID:5016 hepatocellular clear cell carcinoma ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:20723213|REF_RGD_ID:14696785 12002938 TERT telomerase reverse transcriptase gene DOID:5016 hepatocellular clear cell carcinoma disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:28460432|REF_RGD_ID:14696783 12002938 TERT telomerase reverse transcriptase gene DOID:557 kidney disease ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16968891 12002938 TERT telomerase reverse transcriptase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 12002938 TERT telomerase reverse transcriptase gene DOID:612 primary immunodeficiency disease ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12002938 TERT telomerase reverse transcriptase gene DOID:630 genetic disease ISO RGD:1353510 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12002938 TERT telomerase reverse transcriptase gene DOID:6432 pulmonary hypertension ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:24376652|REF_RGD_ID:11038675 12002938 TERT telomerase reverse transcriptase gene DOID:6432 pulmonary hypertension treatment ISO RGD:70494 D RGD:9068941 20200609 RGD PMID:24376652|REF_RGD_ID:11038675 12002938 TERT telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:23000435|PMID:25741868|PMID:28492532|PMID:28677271 12002938 TERT telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD DNA:SNP,mutations:promoter:rs2853669 (-245T >C), (-124C > T),(-146C > T)human PMID:26575952|REF_RGD_ID:11564803 12002938 TERT telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD DNA:mutations:promoter: PMID:25123086|REF_RGD_ID:14696767 12002938 TERT telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1353510 D RGD:9068941 20220602 RGD associated with hepatitis B;DNA:SNP: :rs13167280 (human) PMID:23907815|REF_RGD_ID:152975963 12002938 TERT telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma no_association ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:19184104|REF_RGD_ID:14696769 12002938 TERT telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20200609 RGD DNA:mutations, polymorphisms:promoter,intron, exon:rs2736100,rs2736098(human) PMID:28416747|REF_RGD_ID:14696770 12002938 TERT telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20211217 RGD DNA:SNPs::rs2736098(human) PMID:25339005|REF_RGD_ID:150530496 12002938 TERT telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:17175353|REF_RGD_ID:14696768 12002938 TERT telomerase reverse transcriptase gene DOID:6846 familial melanoma ISO RGD:1353510 D RGD:7240710 20180130 OMIM 12002938 TERT telomerase reverse transcriptase gene DOID:6846 familial melanoma ISO RGD:1353510 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9 PMID:20871597|PMID:22037553|PMID:23066086|PMID:23348503|PMID:23535731|PMID:25741868|PMID:26194807|PMID:26433962|PMID:28492532|PMID:28818973|PMID:31395865 12002938 TERT telomerase reverse transcriptase gene DOID:769 neuroblastoma ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26523776 12002938 TERT telomerase reverse transcriptase gene DOID:784 chronic kidney disease treatment ISO RGD:70494 D RGD:9068941 20200609 RGD PMID:23013219|REF_RGD_ID:11038770 12002938 TERT telomerase reverse transcriptase gene DOID:8552 chronic myeloid leukemia ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17157168 12002938 TERT telomerase reverse transcriptase gene DOID:8552 chronic myeloid leukemia ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:15068898|REF_RGD_ID:11038663 12002938 TERT telomerase reverse transcriptase gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17644806|REF_RGD_ID:2291985 12002938 TERT telomerase reverse transcriptase gene DOID:9000039 Spinal Cord Injuries ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:15798365|REF_RGD_ID:2291993 12002938 TERT telomerase reverse transcriptase gene DOID:9000039 Spinal Cord Injuries ISO RGD:70494 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord PMID:23793903|REF_RGD_ID:11038671 12002938 TERT telomerase reverse transcriptase gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1353510 D RGD:9068941 20220603 RGD associated with lung non-small cell carcinoma; PMID:11679180|REF_RGD_ID:152977755 12002938 TERT telomerase reverse transcriptase gene DOID:9000300 Refractory Anemia ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:18426652|REF_RGD_ID:11038658 12002938 TERT telomerase reverse transcriptase gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29047144 12002938 TERT telomerase reverse transcriptase gene DOID:9000528 Coronary Disease ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease, susceptibility to PMID:16890917 12002938 TERT telomerase reverse transcriptase gene DOID:9000881 Cutaneous Malignant Melanoma, Susceptibility To, 1 ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 12002938 TERT telomerase reverse transcriptase gene DOID:9000918 Disease Progression ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21252717 12002938 TERT telomerase reverse transcriptase gene DOID:9000981 Autosomal Dominant Dyskeratosis Congenita ISO RGD:1353510 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism 12002938 TERT telomerase reverse transcriptase gene DOID:9001272 Hoyeraal Hreidarsson Syndrome ISO RGD:1353510 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome PMID:20502709|PMID:25741868|PMID:28492532|PMID:34890115 12002938 TERT telomerase reverse transcriptase gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:70505 D RGD:9068941 20200609 RGD mRNA,protein,activity:increased expression, increased activity:kupffer cell: PMID:26725521|REF_RGD_ID:11574970 12002938 TERT telomerase reverse transcriptase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70494 D RGD:9068941 20200609 RGD protein:increased expression, increased localization:nucleus PMID:20353272|REF_RGD_ID:11038673 12002938 TERT telomerase reverse transcriptase gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:19545665|REF_RGD_ID:11038676 12002938 TERT telomerase reverse transcriptase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:17344921|REF_RGD_ID:11038662 12002938 TERT telomerase reverse transcriptase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19151717|PMID:21743467 12002938 TERT telomerase reverse transcriptase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23535731 12002938 TERT telomerase reverse transcriptase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:increased expression:serum PMID:17273731|REF_RGD_ID:2291989 12002938 TERT telomerase reverse transcriptase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 RGD protein:increased activity:ovary PMID:10652422|REF_RGD_ID:2298564 12002938 TERT telomerase reverse transcriptase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19151717 12002938 TERT telomerase reverse transcriptase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17644806|REF_RGD_ID:2291985 12002938 TERT telomerase reverse transcriptase gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:70494 D RGD:9068941 20200609 RGD PMID:21940960|REF_RGD_ID:11038672 12002938 TERT telomerase reverse transcriptase gene DOID:9004009 Reperfusion Injury ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16968891 12002938 TERT telomerase reverse transcriptase gene DOID:9004118 Experimental Melanoma treatment ISO RGD:70505 D RGD:9068941 20200609 RGD PMID:19903903|REF_RGD_ID:11038656 12002938 TERT telomerase reverse transcriptase gene DOID:9004268 Uterine Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:increased expression:serum PMID:17273731|REF_RGD_ID:2291989 12002938 TERT telomerase reverse transcriptase gene DOID:9004547 Thyroid Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25383969 12002938 TERT telomerase reverse transcriptase gene DOID:9004547 Thyroid Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:12915632|REF_RGD_ID:2291994 12002938 TERT telomerase reverse transcriptase gene DOID:9004547 Thyroid Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:increased expression:plasma PMID:14654933|REF_RGD_ID:2291969 12002938 TERT telomerase reverse transcriptase gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1353510 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 12002938 TERT telomerase reverse transcriptase gene DOID:9005172 Lung Neoplasms ISO RGD:1353510 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:11323394|PMID:19151717|PMID:23433592 12002938 TERT telomerase reverse transcriptase gene DOID:9005172 Lung Neoplasms treatment ISO RGD:70505 D RGD:9068941 20200609 RGD PMID:19903903|REF_RGD_ID:11038656 12002938 TERT telomerase reverse transcriptase gene DOID:9005221 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 1 ISO RGD:1353510 D RGD:7240710 20180130 OMIM 12002938 TERT telomerase reverse transcriptase gene DOID:9005221 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 1 ISO RGD:1353510 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 PMID:15814878|PMID:15885610|PMID:16199547|PMID:16247010|PMID:16332973|PMID:16627250|PMID:17264120|PMID:17392301|PMID:17460043|PMID:18042801|PMID:18302718|PMID:18460650|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19489057|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20022961|PMID:20044353|PMID:20301779|PMID:20502709|PMID:20858879|PMID:20966039|PMID:21258621|PMID:21436073|PMID:21483807|PMID:21520173|PMID:21635204|PMID:21931702|PMID:22364217|PMID:22424236|PMID:22476886|PMID:22512499|PMID:22664374|PMID:22853774|PMID:23335200|PMID:23538340|PMID:23716176|PMID:23901009|PMID:23905534|PMID:24033266|PMID:24833766|PMID:24983628|PMID:25108601|PMID:25365545|PMID:25393420|PMID:25741868|PMID:25785092|PMID:26024875|PMID:26136524|PMID:26158642|PMID:26365799|PMID:27354474|PMID:27540018|PMID:27622320|PMID:27836952|PMID:27848944|PMID:28102861|PMID:28104920|PMID:28154186|PMID:28492532|PMID:28677271|PMID:28813500|PMID:29146883|PMID:29483670|PMID:29625052|PMID:30203795|PMID:30523342|PMID:31268371 12002938 TERT telomerase reverse transcriptase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70494 D RGD:9068941 20200609 RGD PMID:20031167|REF_RGD_ID:2316310 12002938 TERT telomerase reverse transcriptase gene DOID:9005969 Refractory Anemia with Excess of Blasts ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:18426652|REF_RGD_ID:11038658 12002938 TERT telomerase reverse transcriptase gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:70494 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:21264070|REF_RGD_ID:11038677 12002938 TERT telomerase reverse transcriptase gene DOID:9006946 Nonimmune Chronic Idiopathic Neutropenia, Adult ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:22133767|REF_RGD_ID:11038657 12002938 TERT telomerase reverse transcriptase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353510 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15814878|PMID:19561322|PMID:20301779|PMID:23901009|PMID:25741868|PMID:26365799|PMID:28154186|PMID:28492532|PMID:28813500 12002938 TERT telomerase reverse transcriptase gene DOID:9007188 Liver Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27064257 12002938 TERT telomerase reverse transcriptase gene DOID:9007715 Endometrial Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:11078809|REF_RGD_ID:2298562 12002938 TERT telomerase reverse transcriptase gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1353510 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :rs10069690,rs2242652(human) PMID:29507683|REF_RGD_ID:14696786 12002938 TERT telomerase reverse transcriptase gene DOID:9008939 Breast Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23535731 12002938 TERT telomerase reverse transcriptase gene DOID:9008939 Breast Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:increased expression:plasma PMID:14654933|REF_RGD_ID:2291969 12002938 TERT telomerase reverse transcriptase gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:17974999|REF_RGD_ID:2291981 12002938 TERT telomerase reverse transcriptase gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:17616810|REF_RGD_ID:2291987 12002938 TERT telomerase reverse transcriptase gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:1353510 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-1381C>T,-659G>A,-244C>T (human) PMID:17848914|REF_RGD_ID:2291983 12002938 TERT telomerase reverse transcriptase gene DOID:9074 systemic lupus erythematosus ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26808113 12002938 TERT telomerase reverse transcriptase gene DOID:9119 acute myeloid leukemia ISO RGD:1353510 D RGD:7240710 20180130 OMIM 12002938 TERT telomerase reverse transcriptase gene DOID:9119 acute myeloid leukemia ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to PMID:15814878|PMID:17460043|PMID:18042801|PMID:18460650|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19760749|PMID:19796246|PMID:20966039|PMID:21258621|PMID:21520173|PMID:21635204|PMID:22476886|PMID:23538340|PMID:23901009|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25741868|PMID:26859482|PMID:28154186|PMID:28492532 12002938 TERT telomerase reverse transcriptase gene DOID:9119 acute myeloid leukemia ISO RGD:1353510 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to PMID:15814878|PMID:17460043|PMID:18042801|PMID:18460650|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19760749|PMID:19796246|PMID:20301779|PMID:20966039|PMID:21258621|PMID:21520173|PMID:21635204|PMID:22476886|PMID:23538340|PMID:23901009|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25741868|PMID:26859482|PMID:28154186|PMID:28492532 12002938 TERT telomerase reverse transcriptase gene DOID:9119 acute myeloid leukemia ISO RGD:1353510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to PMID:15814878|PMID:17460043|PMID:18042801|PMID:18460650|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19760749|PMID:19796246|PMID:20301779|PMID:20966039|PMID:21258621|PMID:21520173|PMID:21635204|PMID:22476886|PMID:22853774|PMID:23538340|PMID:23901009|PMID:23905534|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25741868|PMID:26024875|PMID:26859482|PMID:28154186|PMID:28492532 12002938 TERT telomerase reverse transcriptase gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:23826993|REF_RGD_ID:11038655 12002938 TERT telomerase reverse transcriptase gene DOID:9253 gastrointestinal stromal tumor susceptibility ISO RGD:1353510 D RGD:9068941 20211217 RGD DNA:SNP: :rs2736098(human) PMID:26372813|REF_RGD_ID:11531869 12002938 TERT telomerase reverse transcriptase gene DOID:9261 nasopharynx carcinoma ISO RGD:1353510 D RGD:9068941 20211217 RGD protein:increased expression:nasopharynx PMID:26621837|REF_RGD_ID:11564613 12002938 TERT telomerase reverse transcriptase gene DOID:9513 plasma cell leukemia ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:11237381|REF_RGD_ID:11038665 12002938 TERT telomerase reverse transcriptase gene DOID:9538 multiple myeloma ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:11237381|REF_RGD_ID:11038665 12002938 TERT telomerase reverse transcriptase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:15621763|REF_RGD_ID:11038667 12002938 TERT telomerase reverse transcriptase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1353510 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, introns:g.1296486C>T, g.12866516A>C, g.1279790G>A (rs2735940, rs2736100, rs10069690) (human) PMID:23066086|REF_RGD_ID:11038654 12002957 GPR108 G protein-coupled receptor 108 gene DOID:0080490 mucolipidosis type IV ISO RGD:1344702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12002957 GPR108 G protein-coupled receptor 108 gene DOID:630 genetic disease ISO RGD:1344702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002983 ARMC6 armadillo repeat containing 6 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1348624 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 12002983 ARMC6 armadillo repeat containing 6 gene DOID:630 genetic disease ISO RGD:1348624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12002983 ARMC6 armadillo repeat containing 6 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1348624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12003047 LYSMD1 LysM domain containing 1 gene DOID:0080422 Dravet syndrome ISO RGD:1603473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 12003047 LYSMD1 LysM domain containing 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1603473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12003047 LYSMD1 LysM domain containing 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12003047 LYSMD1 LysM domain containing 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12003047 LYSMD1 LysM domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1603473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12003047 LYSMD1 LysM domain containing 1 gene DOID:5812 MHC class II deficiency ISO RGD:1603473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12003047 LYSMD1 LysM domain containing 1 gene DOID:630 genetic disease ISO RGD:1603473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003047 LYSMD1 LysM domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12003082 LOC100971312 olfactory receptor 2H1 gene DOID:11372 megacolon ISO RGD:1353217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12003082 LOC100971312 olfactory receptor 2H1 gene DOID:630 genetic disease ISO RGD:1353217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003100 PDE8A phosphodiesterase 8A gene DOID:2717 Bloom syndrome ISO RGD:1601777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12003100 PDE8A phosphodiesterase 8A gene DOID:630 genetic disease ISO RGD:1601777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003100 PDE8A phosphodiesterase 8A gene DOID:9256 colorectal cancer ISO RGD:1601777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12003129 XKR4 XK related 4 gene DOID:303 substance-related disorder ISO RGD:1606184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12003129 XKR4 XK related 4 gene DOID:630 genetic disease ISO RGD:1606184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003135 SCLY selenocysteine lyase gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1343598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12003135 SCLY selenocysteine lyase gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1343598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12003135 SCLY selenocysteine lyase gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1343598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12003135 SCLY selenocysteine lyase gene DOID:1059 intellectual disability ISO RGD:1343598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12003135 SCLY selenocysteine lyase gene DOID:630 genetic disease ISO RGD:1343598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003135 SCLY selenocysteine lyase gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1343598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12003162 SPATC1L spermatogenesis and centriole associated 1 like gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1344058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12003162 SPATC1L spermatogenesis and centriole associated 1 like gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1344058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 12003162 SPATC1L spermatogenesis and centriole associated 1 like gene DOID:0110266 cataract 9 multiple types ISO RGD:1344058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12003162 SPATC1L spermatogenesis and centriole associated 1 like gene DOID:12849 autistic disorder ISO RGD:1344058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12003162 SPATC1L spermatogenesis and centriole associated 1 like gene DOID:630 genetic disease ISO RGD:1344058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003162 SPATC1L spermatogenesis and centriole associated 1 like gene DOID:891 progressive myoclonus epilepsy ISO RGD:1344058 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12003162 SPATC1L spermatogenesis and centriole associated 1 like gene DOID:9263 homocystinuria ISO RGD:1344058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12003162 SPATC1L spermatogenesis and centriole associated 1 like gene DOID:9562 primary ciliary dyskinesia ISO RGD:1344058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12003173 GREB1L GREB1 like retinoic acid receptor coactivator gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:1351643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA PMID:25741868|PMID:32585897 12003173 GREB1L GREB1 like retinoic acid receptor coactivator gene DOID:0060232 branchiootic syndrome ISO RGD:1351643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inner ear malformation PMID:29955957 12003173 GREB1L GREB1 like retinoic acid receptor coactivator gene DOID:0060250 idiopathic scoliosis ISO RGD:1351643 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1 PMID:25741868 12003173 GREB1L GREB1 like retinoic acid receptor coactivator gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1351643 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 12003173 GREB1L GREB1 like retinoic acid receptor coactivator gene DOID:0080205 CAKUT ISO RGD:1351643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868|PMID:29100090|PMID:30143558 12003173 GREB1L GREB1 like retinoic acid receptor coactivator gene DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome ISO RGD:1351643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mayer-Rokitansky-Kuster-Hauser syndrome PMID:25741868|PMID:28492532|PMID:32378186 12003173 GREB1L GREB1 like retinoic acid receptor coactivator gene DOID:0112178 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 ISO RGD:1351643 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rokitansky sequence PMID:25741868 12003173 GREB1L GREB1 like retinoic acid receptor coactivator gene DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 ISO RGD:1351643 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Klippel-feil deformity, conductive deafness, and absent vagina PMID:25741868 12003173 GREB1L GREB1 like retinoic acid receptor coactivator gene DOID:1059 intellectual disability ISO RGD:1351643 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12003173 GREB1L GREB1 like retinoic acid receptor coactivator gene DOID:14766 renal agenesis ISO RGD:1351643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal agenesis PMID:25741868|PMID:35005812 12003173 GREB1L GREB1 like retinoic acid receptor coactivator gene DOID:9003763 Renal Hypodysplasia/Aplasia 1 ISO RGD:1351643 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Renal agenesis and hypodysplasia PMID:28492532|PMID:29100090 12003173 GREB1L GREB1 like retinoic acid receptor coactivator gene DOID:9007661 Dwarfism ISO RGD:1351643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12003173 GREB1L GREB1 like retinoic acid receptor coactivator gene DOID:9008687 Autosomal Dominant Nonsyndromic Deafness 80 ISO RGD:1351643 D RGD:7240710 20210505 OMIM 12003173 GREB1L GREB1 like retinoic acid receptor coactivator gene DOID:9008687 Autosomal Dominant Nonsyndromic Deafness 80 ISO RGD:1351643 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 80 PMID:25741868|PMID:28492532|PMID:29955957|PMID:32585897 12003173 GREB1L GREB1 like retinoic acid receptor coactivator gene DOID:9009100 Renal Hypodysplasia/Aplasia 3 ISO RGD:1351643 D RGD:7240710 20190315 OMIM 12003173 GREB1L GREB1 like retinoic acid receptor coactivator gene DOID:9009100 Renal Hypodysplasia/Aplasia 3 ISO RGD:1351643 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 3 PMID:25741868|PMID:28492532|PMID:28739660|PMID:29100090|PMID:29100091|PMID:30143558|PMID:31424080|PMID:32378186|PMID:32585897|PMID:32598191|PMID:33532864|PMID:33548512 12003217 TBC1D9B TBC1 domain family member 9B gene DOID:630 genetic disease ISO RGD:1604633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003247 TRMT2A tRNA methyltransferase 2 homolog A gene DOID:0060041 autism spectrum disorder ISO RGD:1604368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12003247 TRMT2A tRNA methyltransferase 2 homolog A gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1604368 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12003247 TRMT2A tRNA methyltransferase 2 homolog A gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1604368 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12003247 TRMT2A tRNA methyltransferase 2 homolog A gene DOID:1059 intellectual disability ISO RGD:1604368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12003247 TRMT2A tRNA methyltransferase 2 homolog A gene DOID:11198 DiGeorge syndrome ISO RGD:1604368 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12003247 TRMT2A tRNA methyltransferase 2 homolog A gene DOID:11372 megacolon ISO RGD:1604368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12003247 TRMT2A tRNA methyltransferase 2 homolog A gene DOID:12583 velocardiofacial syndrome ISO RGD:1604368 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12003247 TRMT2A tRNA methyltransferase 2 homolog A gene DOID:12849 autistic disorder ISO RGD:1604368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12003247 TRMT2A tRNA methyltransferase 2 homolog A gene DOID:1826 epilepsy ISO RGD:1604368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12003247 TRMT2A tRNA methyltransferase 2 homolog A gene DOID:2213 hemorrhagic disease ISO RGD:1604368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 12003247 TRMT2A tRNA methyltransferase 2 homolog A gene DOID:5419 schizophrenia ISO RGD:1604368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12003247 TRMT2A tRNA methyltransferase 2 homolog A gene DOID:612 primary immunodeficiency disease ISO RGD:1604368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12003247 TRMT2A tRNA methyltransferase 2 homolog A gene DOID:630 genetic disease ISO RGD:1604368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003247 TRMT2A tRNA methyltransferase 2 homolog A gene DOID:9003871 Venous Thrombosis ISO RGD:1604368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 12003247 TRMT2A tRNA methyltransferase 2 homolog A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12003247 TRMT2A tRNA methyltransferase 2 homolog A gene DOID:9007661 Dwarfism ISO RGD:1604368 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12003268 KCND2 potassium voltage-gated channel subfamily D member 2 gene DOID:308 early myoclonic encephalopathy ISO RGD:68574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy PMID:17576681|PMID:19171772|PMID:24501278|PMID:28166811|PMID:28492532|PMID:29581270|PMID:9536098 12003268 KCND2 potassium voltage-gated channel subfamily D member 2 gene DOID:308 early myoclonic encephalopathy ISO RGD:68574 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy PMID:17576681|PMID:19171772|PMID:24501278|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29581270|PMID:9536098 12003268 KCND2 potassium voltage-gated channel subfamily D member 2 gene DOID:308 early myoclonic encephalopathy ISO RGD:68574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:16199547|PMID:17576681|PMID:19171772|PMID:24501278|PMID:25214526|PMID:25640679|PMID:25741868|PMID:28492532|PMID:29581270|PMID:30571183|PMID:9536098 12003268 KCND2 potassium voltage-gated channel subfamily D member 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:68574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12003268 KCND2 potassium voltage-gated channel subfamily D member 2 gene DOID:4947 cholangiocarcinoma ISO RGD:68574 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34418280 12003268 KCND2 potassium voltage-gated channel subfamily D member 2 gene DOID:630 genetic disease ISO RGD:68574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12003268 KCND2 potassium voltage-gated channel subfamily D member 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:68574 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34418280 12003268 KCND2 potassium voltage-gated channel subfamily D member 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:68574 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34418280 12003278 ATG16L1 autophagy related 16 like 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:1321647 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192919 12003278 ATG16L1 autophagy related 16 like 1 gene DOID:0060476 Perlman syndrome ISO RGD:1321647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12003278 ATG16L1 autophagy related 16 like 1 gene DOID:0060478 Zika fever ISO RGD:1321647 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28694387 12003278 ATG16L1 autophagy related 16 like 1 gene DOID:0110885 inflammatory bowel disease 10 ISO RGD:1321647 D RGD:7240710 20180130 OMIM 12003278 ATG16L1 autophagy related 16 like 1 gene DOID:0110885 inflammatory bowel disease 10 ISO RGD:1321647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 10, susceptibility to PMID:17200669|PMID:17435756|PMID:18438405|PMID:18852889|PMID:19337756|PMID:24553140|PMID:27273576 12003278 ATG16L1 autophagy related 16 like 1 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1321647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12003278 ATG16L1 autophagy related 16 like 1 gene DOID:630 genetic disease ISO RGD:1321647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003278 ATG16L1 autophagy related 16 like 1 gene DOID:8778 Crohn's disease ISO RGD:1321647 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17435756|PMID:18438406 12003278 ATG16L1 autophagy related 16 like 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1310631 D RGD:9068941 20200609 RGD PMID:24998254|REF_RGD_ID:11561938 12003312 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:0060001 withdrawal disorder ISO RGD:732764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15537871 12003312 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:1324 lung cancer susceptibility ISO RGD:732764 D RGD:9068941 20211203 RGD DNA:SNP: :rs7178270(human) PMID:20587604|REF_RGD_ID:150527839 12003312 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:1324 lung cancer susceptibility ISO RGD:732764 D RGD:9068941 20220225 RGD DNA:SNP:3'utr: (rs1948)C>T (human) PMID:29416783|REF_RGD_ID:151361155 12003312 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:1596 depressive disorder ISO RGD:2351 D RGD:9068941 20220128 RGD mRNA:decreased expression:habenula: PMID:28420875|REF_RGD_ID:151347550 12003312 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:2717 Bloom syndrome ISO RGD:732764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12003312 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 12003312 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732764 D RGD:9068941 20220224 RGD mRNA:increased expression:esophagus (human) PMID:27610024|REF_RGD_ID:151361143 12003312 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:3907 lung squamous cell carcinoma ISO RGD:732764 D RGD:9068941 20211203 RGD mRNA:increased expression:lung PMID:20124469|REF_RGD_ID:150527851 12003312 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:3907 lung squamous cell carcinoma ISO RGD:732764 D RGD:9068941 20220225 RGD DNA:hypomethylation:promoter: PMID:22945651|REF_RGD_ID:151361154 12003312 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:732764 D RGD:9068941 20220224 RGD DNA:SNP:: (rs7178270) (human) PMID:23397474|REF_RGD_ID:151361148 12003312 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:732764 D RGD:9068941 20220224 RGD PMID:25172267|REF_RGD_ID:151361147 12003312 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:3910 lung adenocarcinoma ISO RGD:732764 D RGD:9068941 20211203 RGD mRNA:increased expression:lung PMID:20124469|REF_RGD_ID:150527851 12003312 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:3910 lung adenocarcinoma ISO RGD:732764 D RGD:9068941 20220225 RGD DNA:hypomethylation:promoter: PMID:22945651|REF_RGD_ID:151361154 12003312 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:5409 lung small cell carcinoma ISO RGD:732764 D RGD:9068941 20211203 RGD mRNA:increased expression:lung PMID:20124469|REF_RGD_ID:150527851 12003312 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:630 genetic disease ISO RGD:732764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003312 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:809 cocaine abuse onset ISO RGD:732764 D RGD:9068941 20211210 RGD DNA:SNP::rs950776(human) PMID:32841724|REF_RGD_ID:150530292 12003312 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:8618 oral cavity cancer susceptibility ISO RGD:732764 D RGD:9068941 20220128 RGD DNA:SNP: :rs578776(human) PMID:24505444|REF_RGD_ID:151347542 12003312 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:9001310 Tobacco Use Disorder ISO RGD:732764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29666375 12003312 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:9004283 Transplant Rejection ISO RGD:2351 D RGD:9068941 20220128 RGD PMID:25121092|REF_RGD_ID:151347544 12003312 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:9005172 Lung Neoplasms ISO RGD:732764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18385738 12003312 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:9255 frontotemporal dementia ISO RGD:732764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia 12003312 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:9256 colorectal cancer ISO RGD:732764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12003326 C11H11orf91 chromosome 11 C11orf91 homolog gene DOID:1059 intellectual disability ISO RGD:2301118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12003326 C11H11orf91 chromosome 11 C11orf91 homolog gene DOID:630 genetic disease ISO RGD:2301118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003333 GJA9 gap junction protein alpha 9 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1353099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12003333 GJA9 gap junction protein alpha 9 gene DOID:630 genetic disease ISO RGD:1353099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003339 ANO5 anoctamin 5 gene DOID:0070198 Miyoshi muscular dystrophy ISO RGD:1342534 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Miyoshi myopathy PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32367299 12003339 ANO5 anoctamin 5 gene DOID:0070198 Miyoshi muscular dystrophy ISO RGD:1342534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Miyoshi myopathy PMID:17576681|PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32367299|PMID:9536098 12003339 ANO5 anoctamin 5 gene DOID:0070201 Miyoshi muscular dystrophy 3 ISO RGD:1342534 D RGD:7240710 20180130 OMIM 12003339 ANO5 anoctamin 5 gene DOID:0070201 Miyoshi muscular dystrophy 3 ISO RGD:1342534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Miyoshi muscular dystrophy 3 | ClinVar Annotator: match by term: Miyoshi myopathy 3 PMID:17132147|PMID:18414213|PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23193613|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23663589|PMID:23670307|PMID:23757202|PMID:24022920|PMID:24033266|PMID:24232312|PMID:24803842|PMID:24843231|PMID:25046369|PMID:25135358|PMID:25741868|PMID:25864073|PMID:25891276|PMID:26467025|PMID:26838040|PMID:26886200|PMID:27447704|PMID:27671536|PMID:27708273|PMID:27854218|PMID:27862037|PMID:27911336|PMID:28176803|PMID:28187523|PMID:28492532|PMID:28888072|PMID:30564623|PMID:30919934|PMID:31350120|PMID:31353849|PMID:31395899|PMID:31589614|PMID:32112655|PMID:32528171|PMID:33963534|PMID:34008892|PMID:9673985 12003339 ANO5 anoctamin 5 gene DOID:0080000 muscular disease ISO RGD:1342534 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23757202|PMID:24022920|PMID:24232312|PMID:24843231|PMID:25741868|PMID:25891276|PMID:26467025|PMID:26886200|PMID:27447704|PMID:27708273|PMID:27911336|PMID:28187523|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31395899|PMID:32112655|PMID:9673985 12003339 ANO5 anoctamin 5 gene DOID:0080322 polycystic kidney disease ISO RGD:1342534 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kidney, Polycystic PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23757202|PMID:24022920|PMID:24232312|PMID:24843231|PMID:25741868|PMID:25891276|PMID:26467025|PMID:26886200|PMID:27447704|PMID:27708273|PMID:27911336|PMID:28187523|PMID:28492532|PMID:30919934|PMID:9673985 12003339 ANO5 anoctamin 5 gene DOID:0080600 COVID-19 ISO RGD:1342534 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12003339 ANO5 anoctamin 5 gene DOID:0081329 glycogen storage disease I ISO RGD:1342534 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency PMID:21186264|PMID:23606453|PMID:25741868|PMID:25891276|PMID:28492532|PMID:30919934|PMID:31353849 12003339 ANO5 anoctamin 5 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1342534 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:17576681|PMID:18414213|PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23670307|PMID:23757202|PMID:24022920|PMID:24033266|PMID:24232312|PMID:24843231|PMID:24889862|PMID:25741868|PMID:25864073|PMID:25891276|PMID:26467025|PMID:26886200|PMID:27447704|PMID:27671536|PMID:27708273|PMID:27854218|PMID:27911336|PMID:28187523|PMID:28492532|PMID:30919934|PMID:32367299|PMID:9536098|PMID:9673985 12003339 ANO5 anoctamin 5 gene DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L ISO RGD:1342534 D RGD:7240710 20180130 OMIM 12003339 ANO5 anoctamin 5 gene DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L ISO RGD:1342534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2L | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2L PMID:16199547|PMID:17008331|PMID:17132147|PMID:17576681|PMID:18414213|PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23169617|PMID:23193613|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23663589|PMID:23670307|PMID:23757202|PMID:24022920|PMID:24033266|PMID:24232312|PMID:24803842|PMID:24843231|PMID:25046369|PMID:25135358|PMID:25326637|PMID:25741868|PMID:25864073|PMID:25891276|PMID:26467025|PMID:26809617|PMID:26810512|PMID:26838040|PMID:26886200|PMID:26911675|PMID:27447704|PMID:27671536|PMID:27708273|PMID:27854218|PMID:27862037|PMID:27884173|PMID:27911336|PMID:28176803|PMID:28187523|PMID:28492532|PMID:28888072|PMID:30564623|PMID:30919934|PMID:31350120|PMID:31353849|PMID:31395899|PMID:31517061|PMID:31589614|PMID:31791368|PMID:31862442|PMID:31931849|PMID:32112655|PMID:32367299|PMID:32403337|PMID:32419263|PMID:32528171|PMID:32819793|PMID:34008892|PMID:35563815|PMID:9536098|PMID:9673985 12003339 ANO5 anoctamin 5 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1342534 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23757202|PMID:24022920|PMID:24232312|PMID:24843231|PMID:25741868|PMID:25891276|PMID:26467025|PMID:26886200|PMID:27447704|PMID:27708273|PMID:27911336|PMID:28187523|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31395899|PMID:32112655|PMID:9673985 12003339 ANO5 anoctamin 5 gene DOID:0111533 gnathodiaphyseal dysplasia ISO RGD:1342534 D RGD:7240710 20180130 OMIM 12003339 ANO5 anoctamin 5 gene DOID:0111533 gnathodiaphyseal dysplasia ISO RGD:1342534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia | ClinVar Annotator: match by term: Osteogenesis imperfecta with unusual skeletal lesions PMID:15124103|PMID:16199547|PMID:17008331|PMID:17132147|PMID:17576681|PMID:18414213|PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23047743|PMID:23169617|PMID:23193613|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23663589|PMID:23670307|PMID:23757202|PMID:24022920|PMID:24033266|PMID:24232312|PMID:24239059|PMID:24803842|PMID:24843231|PMID:25046369|PMID:25135358|PMID:25326637|PMID:25640679|PMID:25741868|PMID:25864073|PMID:25891276|PMID:26404900|PMID:26436962|PMID:26467025|PMID:26809617|PMID:26810512|PMID:26838040|PMID:26886200|PMID:26911675|PMID:27447704|PMID:27541832|PMID:27671536|PMID:27708273|PMID:27854218|PMID:27862037|PMID:27884173|PMID:27911336|PMID:28176803|PMID:28187523|PMID:28492532|PMID:28888072|PMID:29124309|PMID:29382405|PMID:29792937|PMID:30564623|PMID:30919934|PMID:31127727|PMID:31350120|PMID:31353849|PMID:31395899|PMID:31517061|PMID:31589614|PMID:31791368|PMID:31862442|PMID:31931849|PMID:32112655|PMID:32367299|PMID:32403337|PMID:32419263|PMID:32528171|PMID:32819793|PMID:33963534|PMID:34008892|PMID:3530687|PMID:35563815|PMID:5816667|PMID:9536098|PMID:9673985 12003339 ANO5 anoctamin 5 gene DOID:1059 intellectual disability ISO RGD:1342534 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23757202|PMID:24022920|PMID:24232312|PMID:24843231|PMID:25741868|PMID:25891276|PMID:26467025|PMID:26886200|PMID:27447704|PMID:27708273|PMID:27911336|PMID:28187523|PMID:28492532|PMID:30919934|PMID:9673985 12003339 ANO5 anoctamin 5 gene DOID:11720 distal myopathy ISO RGD:1342534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal muscle weakness PMID:22499103|PMID:25741868|PMID:25891276|PMID:26886200|PMID:27447704|PMID:27911336|PMID:28492532|PMID:30564623|PMID:30919934 12003339 ANO5 anoctamin 5 gene DOID:11720 distal myopathy ISO RGD:1342534 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Distal muscle weakness PMID:22499103|PMID:25741868|PMID:26886200|PMID:27447704|PMID:27911336|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31395899|PMID:32112655 12003339 ANO5 anoctamin 5 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1342534 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:23606453|PMID:24022920|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31395899|PMID:32403337|PMID:32528171 12003339 ANO5 anoctamin 5 gene DOID:2749 glycogen storage disease Ia ISO RGD:1342534 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hepatorenal glycogenosis PMID:21186264|PMID:23606453|PMID:25741868|PMID:25891276|PMID:28492532|PMID:30919934|PMID:31353849 12003339 ANO5 anoctamin 5 gene DOID:423 myopathy ISO RGD:1342534 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myopathy PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23757202|PMID:24022920|PMID:24232312|PMID:24843231|PMID:25741868|PMID:25891276|PMID:26467025|PMID:26886200|PMID:27447704|PMID:27708273|PMID:27911336|PMID:28187523|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31395899|PMID:32112655|PMID:9673985 12003339 ANO5 anoctamin 5 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:1342534 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:20096397|PMID:22402862|PMID:22980763|PMID:23041008|PMID:23193613|PMID:23606453|PMID:23663589|PMID:23670307|PMID:24033266|PMID:25741868|PMID:25891276|PMID:28176803|PMID:28492532|PMID:31353849 12003339 ANO5 anoctamin 5 gene DOID:630 genetic disease ISO RGD:1342534 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23606453|PMID:25741868|PMID:28492532 12003339 ANO5 anoctamin 5 gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:1342534 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fructose-1,6-bisphosphate aldolase B deficiency PMID:20096397|PMID:22402862|PMID:22980763|PMID:23041008|PMID:23193613|PMID:23606453|PMID:23663589|PMID:23670307|PMID:24033266|PMID:25741868|PMID:25891276|PMID:28176803|PMID:28492532|PMID:31353849 12003339 ANO5 anoctamin 5 gene DOID:9884 muscular dystrophy ISO RGD:1342534 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:21186264|PMID:23606453|PMID:25741868|PMID:25891276|PMID:28492532|PMID:30919934 12003375 THOC5 THO complex subunit 5 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1349222 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 12003375 THOC5 THO complex subunit 5 gene DOID:2355 anemia ISO RGD:1312750 D RGD:9068941 20200609 RGD PMID:20051105|REF_RGD_ID:2317224 12003375 THOC5 THO complex subunit 5 gene DOID:3459 breast carcinoma ISO RGD:1349222 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:c.1139C>A, c.1495G>A (human) PMID:16959974|REF_RGD_ID:2317225 12003375 THOC5 THO complex subunit 5 gene DOID:615 leukopenia ISO RGD:1312750 D RGD:9068941 20200609 RGD PMID:20051105|REF_RGD_ID:2317224 12003375 THOC5 THO complex subunit 5 gene DOID:630 genetic disease ISO RGD:1349222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003375 THOC5 THO complex subunit 5 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1349222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 12003411 DCTD dCMP deaminase gene DOID:630 genetic disease ISO RGD:1349899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003425 ZNF611 zinc finger protein 611 gene DOID:630 genetic disease ISO RGD:1351809 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003454 KRT74 keratin 74 gene DOID:0110700 hypotrichosis 3 ISO RGD:1605882 D RGD:7240710 20180130 OMIM 12003454 KRT74 keratin 74 gene DOID:0110700 hypotrichosis 3 ISO RGD:1605882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotrichosis 3 PMID:21188418 12003454 KRT74 keratin 74 gene DOID:0111573 autosomal dominant woolly hair ISO RGD:1605882 D RGD:7240710 20180130 OMIM 12003454 KRT74 keratin 74 gene DOID:0111573 autosomal dominant woolly hair ISO RGD:1605882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant woolly hair PMID:20346438|PMID:21188418 12003454 KRT74 keratin 74 gene DOID:0111658 ectodermal dysplasia 4 ISO RGD:1605882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 4, hair/nail type PMID:20409997|PMID:24714551|PMID:25741868|PMID:28492532 12003454 KRT74 keratin 74 gene DOID:0111660 ectodermal dysplasia 7 ISO RGD:1605882 D RGD:7240710 20180130 OMIM 12003454 KRT74 keratin 74 gene DOID:0111660 ectodermal dysplasia 7 ISO RGD:1605882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 7, hair/nail type PMID:20409997|PMID:24714551|PMID:25741868|PMID:28492532 12003454 KRT74 keratin 74 gene DOID:4535 hypotrichosis ISO RGD:1605882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12003454 KRT74 keratin 74 gene DOID:630 genetic disease ISO RGD:1605882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12003468 GLRX2 glutaredoxin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1317443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12003468 GLRX2 glutaredoxin 2 gene DOID:630 genetic disease ISO RGD:1317443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003468 GLRX2 glutaredoxin 2 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1317443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:28774260 12003468 GLRX2 glutaredoxin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12003489 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:0050777 Joubert syndrome ISO RGD:734382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12003489 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:734382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:27891178|PMID:28492532|PMID:31209758 12003489 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:734382 D RGD:7240710 20180130 OMIM 12003489 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:734382 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:17576681|PMID:18414213|PMID:18479385|PMID:20301348|PMID:23086396|PMID:23086397|PMID:24029078|PMID:24319675|PMID:24463883|PMID:24591078|PMID:25042079|PMID:25326635|PMID:25326637|PMID:25339316|PMID:25482562|PMID:25590979|PMID:25741868|PMID:25985138|PMID:26105150|PMID:26122718|PMID:26140313|PMID:26269628|PMID:26369628|PMID:26467025|PMID:26597493|PMID:26648591|PMID:26740507|PMID:26784557|PMID:26786403|PMID:26993267|PMID:27064559|PMID:27081515|PMID:27578169|PMID:27652284|PMID:27779742|PMID:28492532|PMID:28554332|PMID:28987752|PMID:29186148|PMID:29196578|PMID:29358611|PMID:29390993|PMID:30112700|PMID:30182418|PMID:30185235|PMID:30804880|PMID:30868116|PMID:30903923|PMID:31208268|PMID:31216405|PMID:31388363|PMID:31532594|PMID:31618474|PMID:32139178|PMID:32167590|PMID:34114611|PMID:9536098 12003489 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:734382 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12003489 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:734382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12003489 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:734382 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12003489 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:734382 D RGD:7240710 20180130 OMIM 12003489 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:734382 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 | ClinVar Annotator: match by term: Malignant migrating partial seizures of infancy PMID:16025100|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18479385|PMID:19264732|PMID:19597493|PMID:19668216|PMID:20301348|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23086396|PMID:23086397|PMID:23386033|PMID:24029078|PMID:24120652|PMID:24319675|PMID:24463883|PMID:24591078|PMID:25042079|PMID:25132448|PMID:25326635|PMID:25326637|PMID:25339316|PMID:25482562|PMID:25516202|PMID:25590979|PMID:25640679|PMID:25741868|PMID:25963545|PMID:25985138|PMID:26105150|PMID:26122718|PMID:26140313|PMID:26269628|PMID:26369628|PMID:26467025|PMID:26597493|PMID:26648591|PMID:26740507|PMID:26784557|PMID:26786403|PMID:26820064|PMID:26993267|PMID:27029629|PMID:27064559|PMID:27081515|PMID:27159321|PMID:27578169|PMID:27652284|PMID:27779742|PMID:27891178|PMID:28125082|PMID:28366665|PMID:28488083|PMID:28492532|PMID:28554332|PMID:28973083|PMID:28987752|PMID:29037447|PMID:29100083|PMID:29186148|PMID:29196578|PMID:29196579|PMID:29314583|PMID:29358611|PMID:29390993|PMID:29422393|PMID:30112700|PMID:30182418|PMID:30185235|PMID:30804880|PMID:30868116|PMID:30903923|PMID:31208268|PMID:31388363|PMID:31532594|PMID:31560846|PMID:31618474|PMID:31872048|PMID:31875159|PMID:32086284|PMID:32167590|PMID:32613771|PMID:33650128|PMID:34114611|PMID:9536098 12003489 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:0081097 Rafiq syndrome ISO RGD:734382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12003489 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:10908 hydrocephalus ISO RGD:734382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrocephalus PMID:25741868|PMID:28492532 12003489 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:11832 visual epilepsy ISO RGD:734382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:17576681|PMID:18414213|PMID:25339316|PMID:25741868|PMID:26105150|PMID:26122718|PMID:26140313|PMID:26467025|PMID:26740507|PMID:26786403|PMID:27029629|PMID:28488083|PMID:28492532|PMID:28554332|PMID:29100083|PMID:29358611|PMID:29422393|PMID:9536098 12003489 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:11832 visual epilepsy ISO RGD:734382 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizure PMID:17576681|PMID:18414213|PMID:25339316|PMID:25741868|PMID:26105150|PMID:26122718|PMID:26140313|PMID:26467025|PMID:26740507|PMID:26786403|PMID:27029629|PMID:28488083|PMID:28492532|PMID:28554332|PMID:29358611|PMID:29422393|PMID:9536098 12003489 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:734382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 12003489 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:1826 epilepsy ISO RGD:734382 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Epilepsy syndrome | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:17576681|PMID:18414213|PMID:23086396|PMID:23086397|PMID:24319675|PMID:24591078|PMID:25326635|PMID:25326637|PMID:25339316|PMID:25482562|PMID:25741868|PMID:26105150|PMID:26122718|PMID:26140313|PMID:26467025|PMID:26648591|PMID:26740507|PMID:26786403|PMID:27029629|PMID:27081515|PMID:27652284|PMID:28488083|PMID:28492532|PMID:28554332|PMID:28987752|PMID:29358611|PMID:29422393|PMID:30182418|PMID:9536098 12003489 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:1826 epilepsy ISO RGD:734382 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epilepsy syndrome | ClinVar Annotator: match by term: Seizure PMID:17576681|PMID:18414213|PMID:23086396|PMID:23086397|PMID:24319675|PMID:24591078|PMID:25326635|PMID:25326637|PMID:25339316|PMID:25482562|PMID:25741868|PMID:26105150|PMID:26122718|PMID:26140313|PMID:26467025|PMID:26648591|PMID:26740507|PMID:26786403|PMID:27029629|PMID:27081515|PMID:27652284|PMID:28488083|PMID:28492532|PMID:28554332|PMID:28987752|PMID:29100083|PMID:29358611|PMID:29422393|PMID:30182418|PMID:9536098 12003489 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:1826 epilepsy ISO RGD:734382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Epilepsy syndrome | ClinVar Annotator: match by term: Seizure PMID:23086396|PMID:23086397|PMID:24319675|PMID:24591078|PMID:25326635|PMID:25326637|PMID:25482562|PMID:25741868|PMID:26122718|PMID:26140313|PMID:26648591|PMID:26740507|PMID:26993267|PMID:27029629|PMID:27081515|PMID:27652284|PMID:28492532|PMID:28987752|PMID:29100083|PMID:30182418 12003489 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:2234 focal epilepsy ISO RGD:734382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal epilepsy PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29186148|PMID:34114611 12003489 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:734382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 12003489 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:3331 frontal lobe epilepsy ISO RGD:734382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23086396 12003489 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:3652 Leigh disease ISO RGD:734382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12003489 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:5419 schizophrenia ISO RGD:734382 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12003489 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:630 genetic disease ISO RGD:734382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:23086397|PMID:24319675|PMID:25326635|PMID:25326637|PMID:25339316|PMID:25482562|PMID:25640679|PMID:25741868|PMID:26105150|PMID:26122718|PMID:26140313|PMID:26436452|PMID:26467025|PMID:26740507|PMID:26786403|PMID:27081515|PMID:27652284|PMID:28488083|PMID:28492532|PMID:28554332|PMID:28973083|PMID:28987752|PMID:29186148|PMID:29358611|PMID:29422393|PMID:30182418|PMID:31388363|PMID:34114611|PMID:9536098 12003489 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:734382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:28492532 12003489 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734382 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12003489 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:9004991 Holoprosencephaly 12 ISO RGD:734382 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 12 with or without pancreatic agenesis PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12003489 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:734382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 12003489 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:734382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23086397 12003521 RNF122 ring finger protein 122 gene DOID:630 genetic disease ISO RGD:1352221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003553 RNF227 ring finger protein 227 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:13434539 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12003553 RNF227 ring finger protein 227 gene DOID:2729 dyskeratosis congenita ISO RGD:13434539 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12003553 RNF227 ring finger protein 227 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:13434539 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12003559 NUDT15 nudix hydrolase 15 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1317982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12003559 NUDT15 nudix hydrolase 15 gene DOID:0080124 mitochondrial DNA depletion syndrome 5 ISO RGD:1317982 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:15877282|PMID:17301081|PMID:26475597|PMID:28492532 12003559 NUDT15 nudix hydrolase 15 gene DOID:1059 intellectual disability ISO RGD:1317982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12003559 NUDT15 nudix hydrolase 15 gene DOID:630 genetic disease ISO RGD:1317982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003559 NUDT15 nudix hydrolase 15 gene DOID:768 retinoblastoma ISO RGD:1317982 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:12541220|PMID:14722923|PMID:17096365|PMID:22180099|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255 12003559 NUDT15 nudix hydrolase 15 gene DOID:9002041 Poor Metabolism of Thiopurines, 2 ISO RGD:1317982 D RGD:7240710 20190315 OMIM 12003559 NUDT15 nudix hydrolase 15 gene DOID:9002041 Poor Metabolism of Thiopurines, 2 ISO RGD:1317982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thiopurines, poor metabolism of, 2 PMID:22992668|PMID:25108385|PMID:25624441|PMID:26033531|PMID:26076924|PMID:26405151|PMID:26503813|PMID:26590936|PMID:26735160|PMID:26878724|PMID:27095468|PMID:27193222|PMID:27416873|PMID:27558924|PMID:27577869|PMID:27604507|PMID:28088792|PMID:28146264|PMID:28418010|PMID:28445187|PMID:28659275|PMID:29702976|PMID:29704867|PMID:29720126|PMID:29867468|PMID:29923122|PMID:29967377|PMID:30035323|PMID:30048756|PMID:30101994|PMID:30728528|PMID:31024313 12003567 CUL1 cullin 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1317768 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 12003567 CUL1 cullin 1 gene DOID:0090130 cortical dysplasia-focal epilepsy syndrome ISO RGD:1317768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome PMID:16571880|PMID:22872700|PMID:28492532 12003567 CUL1 cullin 1 gene DOID:14731 Weaver syndrome ISO RGD:1317768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Weaver syndrome PMID:28492532 12003567 CUL1 cullin 1 gene DOID:630 genetic disease ISO RGD:1317768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003606 HS3ST4 heparan sulfate-glucosamine 3-sulfotransferase 4 gene DOID:630 genetic disease ISO RGD:1352921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003606 HS3ST4 heparan sulfate-glucosamine 3-sulfotransferase 4 gene DOID:670 amphetamine abuse ISO RGD:1352921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12003612 UBE2F ubiquitin conjugating enzyme E2 F (putative) gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1350782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12003612 UBE2F ubiquitin conjugating enzyme E2 F (putative) gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1350782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12003612 UBE2F ubiquitin conjugating enzyme E2 F (putative) gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1350782 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12003612 UBE2F ubiquitin conjugating enzyme E2 F (putative) gene DOID:1059 intellectual disability ISO RGD:1350782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12003612 UBE2F ubiquitin conjugating enzyme E2 F (putative) gene DOID:630 genetic disease ISO RGD:1350782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003612 UBE2F ubiquitin conjugating enzyme E2 F (putative) gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1350782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12003632 APOM apolipoprotein M gene DOID:0050553 JMP syndrome ISO RGD:1351807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12003632 APOM apolipoprotein M gene DOID:11372 megacolon ISO RGD:1351807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12003632 APOM apolipoprotein M gene DOID:3393 coronary artery disease susceptibility ISO RGD:1351807 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-778T>C(rs805296)(human) PMID:17674965|REF_RGD_ID:2314241 12003632 APOM apolipoprotein M gene DOID:630 genetic disease ISO RGD:1351807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003632 APOM apolipoprotein M gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1551634 D RGD:9068941 20200609 RGD protein:decreased secretion:plasma PMID:16516154|REF_RGD_ID:2314249 12003632 APOM apolipoprotein M gene DOID:9006646 Metabolic Syndrome ISO RGD:1351807 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:19539616|REF_RGD_ID:2314236 12003632 APOM apolipoprotein M gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1351807 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-778T>C(rs805296)(human) PMID:16572495|REF_RGD_ID:2314248 12003632 APOM apolipoprotein M gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1351807 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-778T>C(rs805296)(human) PMID:19007767|REF_RGD_ID:2314238 12003649 EFCAB13 EF-hand calcium binding domain 13 gene DOID:630 genetic disease ISO RGD:1606737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003668 B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 gene DOID:0110777 hereditary spastic paraplegia 26 ISO RGD:731293 D RGD:7240710 20180130 OMIM 12003668 B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 gene DOID:0110777 hereditary spastic paraplegia 26 ISO RGD:731293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 26 PMID:16199547|PMID:17576681|PMID:23746551|PMID:25741868|PMID:28492532|PMID:32214227|PMID:9536098 12003668 B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 gene DOID:607 paraplegia ISO RGD:731293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:17576681|PMID:23746551|PMID:24103911|PMID:24283893|PMID:25741868|PMID:28492532|PMID:30521973|PMID:32214227|PMID:9536098 12003668 B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 gene DOID:630 genetic disease ISO RGD:731293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23746551|PMID:25741868|PMID:28492532|PMID:32214227 12003668 B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 gene DOID:6846 familial melanoma ISO RGD:731293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 12003699 ITGA1 integrin subunit alpha 1 gene DOID:0080600 COVID-19 ISO RGD:69006 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12003699 ITGA1 integrin subunit alpha 1 gene DOID:1612 breast cancer ISO RGD:69006 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:down-regulated in tumors lacking a basement membrane PMID:9408292|REF_RGD_ID:2302120 12003699 ITGA1 integrin subunit alpha 1 gene DOID:2349 arteriosclerosis ISO RGD:69007 D RGD:9068941 20200609 RGD atherosclerosis; DNA:knockout::genetic knockout or treatment with a blocking antibody reduced atherosclerotic inflammation and plaque formation in ApoE-/- mice PMID:15976328|REF_RGD_ID:2302133 12003699 ITGA1 integrin subunit alpha 1 gene DOID:630 genetic disease ISO RGD:69006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003699 ITGA1 integrin subunit alpha 1 gene DOID:9002211 Hyperalgesia ISO RGD:2923 D RGD:9068941 20200609 RGD PGE2-induced PMID:14984413|REF_RGD_ID:2302389 12003699 ITGA1 integrin subunit alpha 1 gene DOID:9002211 Hyperalgesia ISO RGD:2923 D RGD:9068941 20200609 RGD knock-down using a specific monoclonal antibody or RNAi PMID:15836982|REF_RGD_ID:2302139 12003699 ITGA1 integrin subunit alpha 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12003699 ITGA1 integrin subunit alpha 1 gene DOID:9007402 Gliosis ISO RGD:69006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12851778 12003699 ITGA1 integrin subunit alpha 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 12003732 SNAI1 snail family transcriptional repressor 1 gene DOID:0050827 rheumatic heart disease ISO RGD:620758 D RGD:9068941 20230202 RGD mRNA, protein:increases expression:mitral valve, heart (rat) PMID:33179113|REF_RGD_ID:155882558 12003732 SNAI1 snail family transcriptional repressor 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1347076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12003732 SNAI1 snail family transcriptional repressor 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1553692 D RGD:9068941 20220825 MouseDO 12003732 SNAI1 snail family transcriptional repressor 1 gene DOID:13580 cholestasis ISO RGD:1347076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224055 12003732 SNAI1 snail family transcriptional repressor 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1347076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12003732 SNAI1 snail family transcriptional repressor 1 gene DOID:4159 skin cancer ISO RGD:1553692 D RGD:9068941 20220825 MouseDO 12003732 SNAI1 snail family transcriptional repressor 1 gene DOID:5199 ureteral obstruction ISO RGD:1347076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 12003732 SNAI1 snail family transcriptional repressor 1 gene DOID:630 genetic disease ISO RGD:1347076 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003732 SNAI1 snail family transcriptional repressor 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1347076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12003732 SNAI1 snail family transcriptional repressor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1347076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22580338|PMID:23219715 12003732 SNAI1 snail family transcriptional repressor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1347076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22580338|PMID:24014025 12003732 SNAI1 snail family transcriptional repressor 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1347076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 12003732 SNAI1 snail family transcriptional repressor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1347076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11850205|PMID:24014025 12003732 SNAI1 snail family transcriptional repressor 1 gene DOID:9256 colorectal cancer treatment ISO RGD:1347076 D RGD:9068941 20220728 RGD Human cells in mouse model PMID:32682784|REF_RGD_ID:153297782 12003732 SNAI1 snail family transcriptional repressor 1 gene DOID:9655 oral mucosa leukoplakia disease_progression ISO RGD:1347076 D RGD:9068941 20220210 RGD PMID:28939076|REF_RGD_ID:151356661 12003739 ITGB5 integrin subunit beta 5 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1349145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12003739 ITGB5 integrin subunit beta 5 gene DOID:50 thyroid gland disease ISO RGD:1349145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 12003739 ITGB5 integrin subunit beta 5 gene DOID:630 genetic disease ISO RGD:1349145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003739 ITGB5 integrin subunit beta 5 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1349145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12003739 ITGB5 integrin subunit beta 5 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1349145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 12003739 ITGB5 integrin subunit beta 5 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1349145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 12003739 ITGB5 integrin subunit beta 5 gene DOID:9270 alkaptonuria ISO RGD:1349145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12003758 LTB4R2 leukotriene B4 receptor 2 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1353949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12003758 LTB4R2 leukotriene B4 receptor 2 gene DOID:630 genetic disease ISO RGD:1353949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003758 LTB4R2 leukotriene B4 receptor 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1353949 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12003758 LTB4R2 leukotriene B4 receptor 2 gene DOID:9004610 Acute Lung Injury severity ISO RGD:732977 D RGD:9068941 20210108 RGD associated with Endotoxemia PMID:27703200|REF_RGD_ID:40903067 12003758 LTB4R2 leukotriene B4 receptor 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1353949 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12003767 PTF1A pancreas associated transcription factor 1a gene DOID:0050877 pancreatic agenesis ISO RGD:1346483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15543146|PMID:22158542|PMID:24212882 12003767 PTF1A pancreas associated transcription factor 1a gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:1346483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Permanent diabetes mellitus of infancy | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:25741868|PMID:28492532 12003767 PTF1A pancreas associated transcription factor 1a gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1346483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 12003767 PTF1A pancreas associated transcription factor 1a gene DOID:2786 cerebellar disease ISO RGD:1346483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15543146|PMID:19650412 12003767 PTF1A pancreas associated transcription factor 1a gene DOID:630 genetic disease ISO RGD:1346483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12003767 PTF1A pancreas associated transcription factor 1a gene DOID:9005970 Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis ISO RGD:1346483 D RGD:7240710 20180130 OMIM 12003767 PTF1A pancreas associated transcription factor 1a gene DOID:9005970 Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis ISO RGD:1346483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal, with cerebellar agenesis | ClinVar Annotator: match by term: PANCREATIC AND CEREBELLAR AGENESIS PMID:10507728|PMID:15543146|PMID:18591390|PMID:20065546|PMID:21749365|PMID:25741868|PMID:25775927|PMID:28492532 12003767 PTF1A pancreas associated transcription factor 1a gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346483 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21182459 12003767 PTF1A pancreas associated transcription factor 1a gene DOID:9007770 Pancreatic Agenesis 2 ISO RGD:1346483 D RGD:7240710 20200226 OMIM 12003767 PTF1A pancreas associated transcription factor 1a gene DOID:9007770 Pancreatic Agenesis 2 ISO RGD:1346483 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: PANCREATIC HYPOPLASIA, CONGENITAL 2 | ClinVar Annotator: match by term: Pancreatic agenesis 2 PMID:25741868|PMID:25775927|PMID:28492532 12003767 PTF1A pancreas associated transcription factor 1a gene DOID:9351 diabetes mellitus ISO RGD:1346483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:25775927|PMID:28492532 12003767 PTF1A pancreas associated transcription factor 1a gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 12003767 PTF1A pancreas associated transcription factor 1a gene DOID:9744 type 1 diabetes mellitus ISO RGD:1346483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus PMID:18591390|PMID:28492532 12003774 ANKRD2 ankyrin repeat domain 2 gene DOID:630 genetic disease ISO RGD:1312939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003797 GPATCH2 G-patch domain containing 2 gene DOID:0050439 Usher syndrome ISO RGD:1318884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 12003797 GPATCH2 G-patch domain containing 2 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1318884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 12003797 GPATCH2 G-patch domain containing 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1318884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12003797 GPATCH2 G-patch domain containing 2 gene DOID:2843 long QT syndrome ISO RGD:1318884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12003797 GPATCH2 G-patch domain containing 2 gene DOID:630 genetic disease ISO RGD:1318884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003797 GPATCH2 G-patch domain containing 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12003821 STYK1 serine/threonine/tyrosine kinase 1 gene DOID:630 genetic disease ISO RGD:1348462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003845 TEKTIP1 tektin bundle interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2301120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12003866 IPP intracisternal A particle-promoted polypeptide gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1314841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12003866 IPP intracisternal A particle-promoted polypeptide gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1314841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12003866 IPP intracisternal A particle-promoted polypeptide gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1314841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12003866 IPP intracisternal A particle-promoted polypeptide gene DOID:13938 amenorrhea ISO RGD:1314841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12003866 IPP intracisternal A particle-promoted polypeptide gene DOID:630 genetic disease ISO RGD:1314841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003866 IPP intracisternal A particle-promoted polypeptide gene DOID:9008443 Colorectal Neoplasms ISO RGD:1314841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 12003883 MTPN myotrophin gene DOID:10763 hypertension ISO RGD:619806 D RGD:9068941 20200609 RGD PMID:12031792|PMID:12419325|REF_RGD_ID:1581046|REF_RGD_ID:632799 12003883 MTPN myotrophin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732852 D RGD:9068941 20220825 MouseDO 12003883 MTPN myotrophin gene DOID:12930 dilated cardiomyopathy ISO RGD:1603905 D RGD:9068941 20200609 RGD PMID:8508536|REF_RGD_ID:1581048 12003883 MTPN myotrophin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12003883 MTPN myotrophin gene DOID:6000 congestive heart failure ISO RGD:732852 D RGD:9068941 20220825 MouseDO 12003883 MTPN myotrophin gene DOID:630 genetic disease ISO RGD:1603905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003883 MTPN myotrophin gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:619806 D RGD:9068941 20200609 RGD PMID:10329199|REF_RGD_ID:1581047 12003883 MTPN myotrophin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603905 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12003891 MAP7 microtubule associated protein 7 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1318886 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12003891 MAP7 microtubule associated protein 7 gene DOID:0111955 immunodeficiency 27A ISO RGD:1318886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 12003891 MAP7 microtubule associated protein 7 gene DOID:630 genetic disease ISO RGD:1318886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003922 TM6SF2 transmembrane 6 superfamily member 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1318158 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24531328 12003922 TM6SF2 transmembrane 6 superfamily member 2 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1318158 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26482880 12003922 TM6SF2 transmembrane 6 superfamily member 2 gene DOID:5844 myocardial infarction ISO RGD:1318158 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24633158 12003922 TM6SF2 transmembrane 6 superfamily member 2 gene DOID:630 genetic disease ISO RGD:1318158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003937 TNFSF9 TNF superfamily member 9 gene DOID:0080490 mucolipidosis type IV ISO RGD:1343892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12003937 TNFSF9 TNF superfamily member 9 gene DOID:12930 dilated cardiomyopathy ISO RGD:1343892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 12003937 TNFSF9 TNF superfamily member 9 gene DOID:2377 multiple sclerosis ISO RGD:1343892 D RGD:9068941 20200609 RGD protein:increased expression:plasma, monocyte (human) PMID:16970683|REF_RGD_ID:2317352 12003937 TNFSF9 TNF superfamily member 9 gene DOID:2773 contact dermatitis ISO RGD:1343892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12003937 TNFSF9 TNF superfamily member 9 gene DOID:630 genetic disease ISO RGD:1343892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003937 TNFSF9 TNF superfamily member 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1615149 D RGD:9068941 20200609 RGD PMID:17325342|REF_RGD_ID:2317348 12003937 TNFSF9 TNF superfamily member 9 gene DOID:707 B-cell lymphoma ISO RGD:1615149 D RGD:9068941 20200609 RGD PMID:10202049|REF_RGD_ID:2317349 12003937 TNFSF9 TNF superfamily member 9 gene DOID:820 myocarditis ISO RGD:1343892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11745696|PMID:12031769 12003937 TNFSF9 TNF superfamily member 9 gene DOID:9000217 Stomach Neoplasms ISO RGD:1343892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12003937 TNFSF9 TNF superfamily member 9 gene DOID:9000220 Coxsackievirus Infections ISO RGD:1343892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11745696 12003937 TNFSF9 TNF superfamily member 9 gene DOID:9119 acute myeloid leukemia ISO RGD:1343892 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:11564827|REF_RGD_ID:2317350 12003937 TNFSF9 TNF superfamily member 9 gene DOID:9256 colorectal cancer ISO RGD:1343892 D RGD:9068941 20200609 RGD protein:decreased expression:colon, rectum, mucosa (human) PMID:16596186|REF_RGD_ID:2317353 12003937 TNFSF9 TNF superfamily member 9 gene DOID:934 viral infectious disease ISO RGD:1343892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 12003945 PPHLN1 periphilin 1 gene DOID:630 genetic disease ISO RGD:1314694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12003997 ANG angiogenin gene DOID:0050589 inflammatory bowel disease ISO RGD:1349500 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20629092|REF_RGD_ID:6892712 12003997 ANG angiogenin gene DOID:0060074 ductal carcinoma in situ ISO RGD:1349500 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:15776477|REF_RGD_ID:2325702 12003997 ANG angiogenin gene DOID:0060200 amyotrophic lateral sclerosis type 9 ISO RGD:1349500 D RGD:7240710 20180130 OMIM 12003997 ANG angiogenin gene DOID:0060200 amyotrophic lateral sclerosis type 9 ISO RGD:1349500 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9 PMID:16501576|PMID:17462671|PMID:17703939|PMID:17886298|PMID:17900154|PMID:18087731|PMID:18852347|PMID:19153377|PMID:19363631|PMID:19444281|PMID:19449021|PMID:19488901|PMID:20577002|PMID:22190368|PMID:22292843|PMID:22384259|PMID:22499346|PMID:22522484|PMID:22645277|PMID:22722621|PMID:23047679|PMID:23155438|PMID:23393617|PMID:23447461|PMID:23463871|PMID:23665167|PMID:25382069|PMID:25741868|PMID:26255299|PMID:26467025|PMID:26551617|PMID:26777436|PMID:28444446|PMID:28492532|PMID:29525178|PMID:30188356|PMID:31368019|PMID:31432357|PMID:32111867|PMID:32579787|PMID:32951934 12003997 ANG angiogenin gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:1349500 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 PMID:17703939|PMID:18087731|PMID:22190368|PMID:25741868|PMID:28492532 12003997 ANG angiogenin gene DOID:0080600 COVID-19 ISO RGD:1349500 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12003997 ANG angiogenin gene DOID:0080855 Parkinsonism ISO RGD:1558200 D RGD:9068941 20200609 RGD PMID:21091473|REF_RGD_ID:6892711 12003997 ANG angiogenin gene DOID:10283 prostate cancer ISO RGD:1349500 D RGD:9068941 20200609 RGD PMID:11948474|PMID:19276260|REF_RGD_ID:2325697|REF_RGD_ID:2325707 12003997 ANG angiogenin gene DOID:10652 Alzheimer's disease severity ISO RGD:1349500 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:22449478|REF_RGD_ID:6892705 12003997 ANG angiogenin gene DOID:11054 urinary bladder cancer ISO RGD:1349500 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15912517|REF_RGD_ID:2325700 12003997 ANG angiogenin gene DOID:11054 urinary bladder cancer ISO RGD:1349500 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:15329320|REF_RGD_ID:2325704 12003997 ANG angiogenin gene DOID:1380 endometrial cancer ISO RGD:1349500 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9119882|REF_RGD_ID:2317659 12003997 ANG angiogenin gene DOID:13922 eosinophilic esophagitis ISO RGD:1349500 D RGD:9068941 20200609 RGD PMID:22331014|REF_RGD_ID:6771318 12003997 ANG angiogenin gene DOID:14330 Parkinson's disease ISO RGD:1349500 D RGD:9068941 20200609 RGD DNA:mutations:multiple PMID:22190368|REF_RGD_ID:6892707 12003997 ANG angiogenin gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1349500 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas, serum PMID:8665497|REF_RGD_ID:2325716 12003997 ANG angiogenin gene DOID:224 transient cerebral ischemia treatment ISO RGD:1594539 D RGD:9068941 20221117 RGD PMID:30258350|REF_RGD_ID:155663419 12003997 ANG angiogenin gene DOID:2394 ovarian cancer ISO RGD:1349500 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9166545|REF_RGD_ID:2317660 12003997 ANG angiogenin gene DOID:2841 asthma severity ISO RGD:1349500 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:16478840|REF_RGD_ID:6892719 12003997 ANG angiogenin gene DOID:289 endometriosis ISO RGD:1349500 D RGD:9068941 20200609 RGD PMID:14748845|PMID:15236995|REF_RGD_ID:2325705|REF_RGD_ID:6892724 12003997 ANG angiogenin gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1349500 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:21916917|REF_RGD_ID:6892708 12003997 ANG angiogenin gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1349500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 12003997 ANG angiogenin gene DOID:332 amyotrophic lateral sclerosis no_association ISO RGD:1349500 D RGD:9068941 20200609 RGD DNA:missense mutation, SNPs: :p.I46V, rs11701, rs2228653 (human) PMID:17462671|REF_RGD_ID:6892716 12003997 ANG angiogenin gene DOID:3526 cerebral infarction severity ISO RGD:1349500 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17823536|REF_RGD_ID:6892714 12003997 ANG angiogenin gene DOID:4085 trophoblastic neoplasm ISO RGD:1349500 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12705339|REF_RGD_ID:2325706 12003997 ANG angiogenin gene DOID:4362 cervical cancer ISO RGD:1349500 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11299848|REF_RGD_ID:2325708 12003997 ANG angiogenin gene DOID:4450 renal cell carcinoma ISO RGD:1349500 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18808740|REF_RGD_ID:2325699 12003997 ANG angiogenin gene DOID:4483 rhinitis ISO RGD:1349500 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:19178538|REF_RGD_ID:6892723 12003997 ANG angiogenin gene DOID:5119 ovarian cyst ISO RGD:1349500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12003997 ANG angiogenin gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1349500 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 12003997 ANG angiogenin gene DOID:5844 myocardial infarction ISO RGD:1349500 D RGD:9068941 20200609 RGD PMID:18462761|REF_RGD_ID:2325719 12003997 ANG angiogenin gene DOID:630 genetic disease ISO RGD:1349500 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12003997 ANG angiogenin gene DOID:7148 rheumatoid arthritis ISO RGD:1349500 D RGD:9068941 20200609 RGD PMID:12653852|REF_RGD_ID:6892721 12003997 ANG angiogenin gene DOID:8634 prostate carcinoma in situ ISO RGD:1558200 D RGD:9068941 20200609 RGD PMID:19276260|REF_RGD_ID:2325697 12003997 ANG angiogenin gene DOID:8947 diabetic retinopathy ISO RGD:1349500 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:decreased tyrosine phosphorylation:vitreous humor PMID:18978347|REF_RGD_ID:2307061 12003997 ANG angiogenin gene DOID:9001472 Nasal Polyps ISO RGD:1349500 D RGD:9068941 20200609 RGD PMID:21711968|REF_RGD_ID:6892710 12003997 ANG angiogenin gene DOID:9004009 Reperfusion Injury ISO RGD:1594539 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19666176|REF_RGD_ID:2325717 12003997 ANG angiogenin gene DOID:9004017 Chronic Hepatitis C ISO RGD:1349500 D RGD:9068941 20200609 RGD PMID:21848603|REF_RGD_ID:6892709 12003997 ANG angiogenin gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:1349500 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:10421268|REF_RGD_ID:2325710 12003997 ANG angiogenin gene DOID:9004713 Acute-Phase Reaction ISO RGD:1349500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9464241 12003997 ANG angiogenin gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1349500 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12003997 ANG angiogenin gene DOID:9008939 Breast Neoplasms ISO RGD:1349500 D RGD:9068941 20200609 RGD PMID:9539780|REF_RGD_ID:2325714 12003997 ANG angiogenin gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1349500 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:15776477|PMID:9748135|REF_RGD_ID:2325702|REF_RGD_ID:2325712 12003997 ANG angiogenin gene DOID:9255 frontotemporal dementia ISO RGD:1349500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:28492532 12003997 ANG angiogenin gene DOID:9970 obesity ISO RGD:1558200 D RGD:9068941 20200609 RGD protein:increased expression:adipose tissue PMID:22748184|REF_RGD_ID:6892722 12004009 OTOR otoraplin gene DOID:630 genetic disease ISO RGD:1313174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004017 SYF2 SYF2 pre-mRNA splicing factor gene DOID:630 genetic disease ISO RGD:1603674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004017 SYF2 SYF2 pre-mRNA splicing factor gene DOID:9588 encephalitis ISO RGD:621592 D RGD:9068941 20200609 RGD PMID:24301298|REF_RGD_ID:10059414 12004028 SSBP3 single stranded DNA binding protein 3 gene DOID:630 genetic disease ISO RGD:731988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004028 SSBP3 single stranded DNA binding protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12004028 SSBP3 single stranded DNA binding protein 3 gene DOID:9008582 Developmental Disease ISO RGD:731988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12004060 CDC16 cell division cycle 16 gene DOID:2222 factor X deficiency ISO RGD:1312892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12004060 CDC16 cell division cycle 16 gene DOID:630 genetic disease ISO RGD:1312892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004095 HMMR hyaluronan mediated motility receptor gene DOID:0080600 COVID-19 ISO RGD:737426 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12004095 HMMR hyaluronan mediated motility receptor gene DOID:11612 polycystic ovary syndrome ISO RGD:737426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12004095 HMMR hyaluronan mediated motility receptor gene DOID:1612 breast cancer ISO RGD:737426 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to PMID:25741868 12004095 HMMR hyaluronan mediated motility receptor gene DOID:1612 breast cancer susceptibility ISO RGD:737426 D RGD:7240710 20230505 OMIM 12004095 HMMR hyaluronan mediated motility receptor gene DOID:2394 ovarian cancer ISO RGD:737426 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 12004095 HMMR hyaluronan mediated motility receptor gene DOID:630 genetic disease ISO RGD:737426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004095 HMMR hyaluronan mediated motility receptor gene DOID:684 hepatocellular carcinoma ISO RGD:737426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12004095 HMMR hyaluronan mediated motility receptor gene DOID:8552 chronic myeloid leukemia ISO RGD:737426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17157168 12004095 HMMR hyaluronan mediated motility receptor gene DOID:9008939 Breast Neoplasms ISO RGD:737426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17922014 12004095 HMMR hyaluronan mediated motility receptor gene DOID:9008952 Breast Cancer, Familial ISO RGD:737426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 12004135 MED14OS MED14 opposite strand gene DOID:12849 autistic disorder ISO RGD:6481333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12004161 RIOX1 ribosomal oxygenase 1 gene DOID:1059 intellectual disability ISO RGD:1317046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12004177 IL3 interleukin 3 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:737391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 12004177 IL3 interleukin 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:737391 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12004177 IL3 interleukin 3 gene DOID:0081120 Graves ophthalmopathy ISO RGD:737391 D RGD:9068941 20200609 RGD DNA: SNP: : rs40401 PMID:20332709|REF_RGD_ID:5686901 12004177 IL3 interleukin 3 gene DOID:10652 Alzheimer's disease ISO RGD:737391 D RGD:9068941 20200609 RGD PMID:18769539|REF_RGD_ID:5686817 12004177 IL3 interleukin 3 gene DOID:10652 Alzheimer's disease ISO RGD:737391 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:17934472|REF_RGD_ID:5686815 12004177 IL3 interleukin 3 gene DOID:11132 prostatic hypertrophy ISO RGD:2897 D RGD:9068941 20200609 RGD mRNA: increased expression: prostate PMID:20945403|REF_RGD_ID:5684375 12004177 IL3 interleukin 3 gene DOID:11400 pyelonephritis ISO RGD:2897 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:18214547|REF_RGD_ID:2317665 12004177 IL3 interleukin 3 gene DOID:12361 Graves' disease ISO RGD:737391 D RGD:9068941 20200609 RGD DNA: SNP: : rs40401 PMID:20332709|REF_RGD_ID:5686901 12004177 IL3 interleukin 3 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:737391 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:28492532 12004177 IL3 interleukin 3 gene DOID:14566 disease of cellular proliferation ISO RGD:10793 D RGD:9068941 20200609 RGD DNA: mutations: multiple: Csf2,Il3,Ifng, strain dependent PMID:21537082|REF_RGD_ID:5686773 12004177 IL3 interleukin 3 gene DOID:1470 major depressive disorder ISO RGD:737391 D RGD:9068941 20200609 RGD mRNA: increased expression: BA10: frontal cortex PMID:20479761|REF_RGD_ID:5686897 12004177 IL3 interleukin 3 gene DOID:1588 thrombocytopenia ISO RGD:737391 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8202718 12004177 IL3 interleukin 3 gene DOID:1790 malignant mesothelioma ISO RGD:737391 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 12004177 IL3 interleukin 3 gene DOID:1793 pancreatic cancer ISO RGD:737391 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15843207|REF_RGD_ID:2317663 12004177 IL3 interleukin 3 gene DOID:2355 anemia ISO RGD:737391 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12090760|PMID:8202718 12004177 IL3 interleukin 3 gene DOID:2841 asthma susceptibility ISO RGD:737391 D RGD:9068941 20200609 RGD DNA:SNP: :rs40401(human) PMID:24684517|REF_RGD_ID:13506914 12004177 IL3 interleukin 3 gene DOID:2841 asthma susceptibility ISO RGD:737391 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:+79T>C(S27P)(human) PMID:15372320|REF_RGD_ID:13506916 12004177 IL3 interleukin 3 gene DOID:3347 osteosarcoma ISO RGD:2897 D RGD:9068941 20200609 RGD PMID:11268282|REF_RGD_ID:2317666 12004177 IL3 interleukin 3 gene DOID:4325 Ebola hemorrhagic fever ISO RGD:737391 D RGD:9068941 20200609 RGD protein: reduced expression: plasma PMID:20957152|REF_RGD_ID:5686879 12004177 IL3 interleukin 3 gene DOID:5419 schizophrenia ISO RGD:737391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12004177 IL3 interleukin 3 gene DOID:615 leukopenia ISO RGD:737391 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8202718 12004177 IL3 interleukin 3 gene DOID:630 genetic disease ISO RGD:737391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004177 IL3 interleukin 3 gene DOID:7148 rheumatoid arthritis ISO RGD:737391 D RGD:9068941 20200609 RGD DNA: SNPs: Multiple: gene-gene interaction PMID:20018070|REF_RGD_ID:5686905 12004177 IL3 interleukin 3 gene DOID:8704 genital herpes ISO RGD:737391 D RGD:9068941 20200609 RGD RNA: increased expression PMID:21175248|REF_RGD_ID:5686876 12004177 IL3 interleukin 3 gene DOID:8893 psoriasis ISO RGD:737391 D RGD:9068941 20200609 RGD protein: decreased expression PMID:19889595|REF_RGD_ID:5686909 12004177 IL3 interleukin 3 gene DOID:9000252 Allergic Rhinoconjunctivitis susceptibility ISO RGD:737391 D RGD:9068941 20200609 RGD DNA:SNP: :rs40401(human) PMID:23953855|REF_RGD_ID:13506915 12004177 IL3 interleukin 3 gene DOID:9000998 Brain Injuries ISO RGD:737391 D RGD:9068941 20200609 RGD protein: increased expression: brain: microdialysis perfusate PMID:20717122|REF_RGD_ID:5686886 12004177 IL3 interleukin 3 gene DOID:9000998 Brain Injuries disease_progression ISO RGD:2897 D RGD:9068941 20200609 RGD PMID:21515263|REF_RGD_ID:5686795 12004177 IL3 interleukin 3 gene DOID:9003369 Strongylida Infections ISO RGD:10793 D RGD:9068941 20200609 RGD PMID:20500666|REF_RGD_ID:5686890 12004177 IL3 interleukin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12004177 IL3 interleukin 3 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737391 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8202718 12004177 IL3 interleukin 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737391 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12004177 IL3 interleukin 3 gene DOID:9970 obesity ISO RGD:737391 D RGD:9068941 20200609 RGD protein: decreased expression: plasma PMID:21203453|REF_RGD_ID:5686875 12004186 LOC100972453 U8 snoRNA-decapping enzyme gene DOID:0080600 COVID-19 ISO RGD:1347227 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12004186 LOC100972453 U8 snoRNA-decapping enzyme gene DOID:630 genetic disease ISO RGD:1347227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004186 LOC100972453 U8 snoRNA-decapping enzyme gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12004186 LOC100972453 U8 snoRNA-decapping enzyme gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12004186 LOC100972453 U8 snoRNA-decapping enzyme gene DOID:9270 alkaptonuria ISO RGD:1347227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12004196 ZNF598 zinc finger protein 598, E3 ubiquitin ligase gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1312605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 12004196 ZNF598 zinc finger protein 598, E3 ubiquitin ligase gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1312605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12004196 ZNF598 zinc finger protein 598, E3 ubiquitin ligase gene DOID:1826 epilepsy ISO RGD:1312605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12004196 ZNF598 zinc finger protein 598, E3 ubiquitin ligase gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1312605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12004196 ZNF598 zinc finger protein 598, E3 ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1312605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004212 CALCA calcitonin related polypeptide alpha gene DOID:0080600 COVID-19 disease_progression ISO RGD:730992 D RGD:9068941 20200618 RGD associated with diabetes mellitus PMID:32345579|REF_RGD_ID:30296681 12004212 CALCA calcitonin related polypeptide alpha gene DOID:0080600 COVID-19 severity ISO RGD:730992 D RGD:9068941 20200618 RGD PMID:32198776|PMID:32220650|REF_RGD_ID:30296673|REF_RGD_ID:30296674 12004212 CALCA calcitonin related polypeptide alpha gene DOID:0080600 COVID-19 severity ISO RGD:730992 D RGD:9068941 20200625 RGD protein:increased expression:serum (human) PMID:32365221|REF_RGD_ID:30310229 12004212 CALCA calcitonin related polypeptide alpha gene DOID:0080998 acute necrotizing pancreatitis resistance ISO RGD:2254 D RGD:9068941 20200609 RGD PMID:19684430|REF_RGD_ID:5684345 12004212 CALCA calcitonin related polypeptide alpha gene DOID:1059 intellectual disability ISO RGD:730992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12004212 CALCA calcitonin related polypeptide alpha gene DOID:10763 hypertension ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1849535|PMID:9887042 12004212 CALCA calcitonin related polypeptide alpha gene DOID:11400 pyelonephritis ISO RGD:730992 D RGD:9068941 20200609 RGD PMID:15286264|REF_RGD_ID:7205498 12004212 CALCA calcitonin related polypeptide alpha gene DOID:11446 sciatic neuropathy ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19852068 12004212 CALCA calcitonin related polypeptide alpha gene DOID:11476 osteoporosis ISO RGD:730992 D RGD:9068941 20200609 RGD PMID:2502220|REF_RGD_ID:734677 12004212 CALCA calcitonin related polypeptide alpha gene DOID:11716 prediabetes syndrome ISO RGD:2254 D RGD:9068941 20200609 RGD protein:increased expression:penis erectile tissue PMID:19152794|REF_RGD_ID:2314033 12004212 CALCA calcitonin related polypeptide alpha gene DOID:12098 trigeminal neuralgia ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12004212 CALCA calcitonin related polypeptide alpha gene DOID:12678 hypercalcemia ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1115441|PMID:12637657 12004212 CALCA calcitonin related polypeptide alpha gene DOID:12783 migraine without aura ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11304026|PMID:14659530 12004212 CALCA calcitonin related polypeptide alpha gene DOID:12849 autistic disorder ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11357950 12004212 CALCA calcitonin related polypeptide alpha gene DOID:14250 Down syndrome ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16289943 12004212 CALCA calcitonin related polypeptide alpha gene DOID:326 ischemia ISO RGD:2254 D RGD:9068941 20200609 RGD PMID:21181115|REF_RGD_ID:5684019 12004212 CALCA calcitonin related polypeptide alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:10274 D RGD:9068941 20200609 RGD PMID:21964254|REF_RGD_ID:5684010 12004212 CALCA calcitonin related polypeptide alpha gene DOID:3770 pulmonary fibrosis ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17365031 12004212 CALCA calcitonin related polypeptide alpha gene DOID:630 genetic disease ISO RGD:730992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004212 CALCA calcitonin related polypeptide alpha gene DOID:6364 migraine ISO RGD:730992 D RGD:9068941 20200609 RGD PMID:20959432|REF_RGD_ID:5684020 12004212 CALCA calcitonin related polypeptide alpha gene DOID:6364 migraine ISO RGD:730992 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:12574409|PMID:17635592|PMID:35115687 12004212 CALCA calcitonin related polypeptide alpha gene DOID:6364 migraine no_association ISO RGD:730992 D RGD:9068941 20200609 RGD PMID:21195698|REF_RGD_ID:5684017 12004212 CALCA calcitonin related polypeptide alpha gene DOID:6432 pulmonary hypertension ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1357980 12004212 CALCA calcitonin related polypeptide alpha gene DOID:76 stomach disease ISO RGD:2254 D RGD:9068941 20200609 RGD Cerebrovascular dysfunction (stroke) associated gastrointestinal injury model PMID:19900492|REF_RGD_ID:5684343 12004212 CALCA calcitonin related polypeptide alpha gene DOID:820 myocarditis ISO RGD:10274 D RGD:9068941 20200609 RGD PMID:15583078|REF_RGD_ID:7204487 12004212 CALCA calcitonin related polypeptide alpha gene DOID:8398 osteoarthritis ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16690336 12004212 CALCA calcitonin related polypeptide alpha gene DOID:9000070 Progressive Renal Failure with Hypertension ISO RGD:10274 D RGD:9068941 20200609 RGD PMID:15928032|REF_RGD_ID:7204486 12004212 CALCA calcitonin related polypeptide alpha gene DOID:9000197 Edema ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7508328 12004212 CALCA calcitonin related polypeptide alpha gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15127121|PMID:16777450 12004212 CALCA calcitonin related polypeptide alpha gene DOID:9001579 Neurogenic Inflammation ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17961222 12004212 CALCA calcitonin related polypeptide alpha gene DOID:9001600 Wounds and Injuries ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18430544 12004212 CALCA calcitonin related polypeptide alpha gene DOID:9002211 Hyperalgesia ISO RGD:2254 D RGD:9068941 20200609 RGD associated with inflammation;protein:increased expression:dorsal root ganglion: PMID:21958434|REF_RGD_ID:8657122 12004212 CALCA calcitonin related polypeptide alpha gene DOID:9002211 Hyperalgesia ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12787826|PMID:12855330|PMID:15265675|PMID:27093858 12004212 CALCA calcitonin related polypeptide alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16222118 12004212 CALCA calcitonin related polypeptide alpha gene DOID:9002362 Hyperkinesis ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:6293644|PMID:6686863 12004212 CALCA calcitonin related polypeptide alpha gene DOID:9002457 Experimental Arthritis ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16690336 12004212 CALCA calcitonin related polypeptide alpha gene DOID:9002763 Experimental Autoimmune Encephalomyelitis no_association ISO RGD:10274 D RGD:9068941 20200609 RGD PMID:19563774|REF_RGD_ID:5684360 12004212 CALCA calcitonin related polypeptide alpha gene DOID:9003805 Catalepsy ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6293644|PMID:6303368|PMID:6686863 12004212 CALCA calcitonin related polypeptide alpha gene DOID:9003870 Herpes Simplex Encephalitis treatment ISO RGD:2254 D RGD:9068941 20200609 RGD PMID:22761571|REF_RGD_ID:7240516 12004212 CALCA calcitonin related polypeptide alpha gene DOID:9005372 Inflammation ISO RGD:2254 D RGD:9068941 20200609 RGD protein:increased expression:hindpaw: PMID:21958434|REF_RGD_ID:8657122 12004212 CALCA calcitonin related polypeptide alpha gene DOID:9005372 Inflammation ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11588175 12004212 CALCA calcitonin related polypeptide alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2254 D RGD:9068941 20200609 RGD protein:decreased expression:dorsal root ganglion, neuron PMID:17151309|REF_RGD_ID:2314035 12004212 CALCA calcitonin related polypeptide alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2254 D RGD:9068941 20200609 RGD protein:increased expression:penis erectile tissue, seminal vesicle PMID:19152794|REF_RGD_ID:2314033 12004212 CALCA calcitonin related polypeptide alpha gene DOID:9006205 Animal Disease Models ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12004212 CALCA calcitonin related polypeptide alpha gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2254 D RGD:9068941 20200609 RGD PMID:19194162|REF_RGD_ID:7204479 12004212 CALCA calcitonin related polypeptide alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:10274 D RGD:9068941 20200609 RGD PMID:19816194|REF_RGD_ID:2314032 12004212 CALCA calcitonin related polypeptide alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:2254 D RGD:9068941 20200609 RGD protein:decreased expression:dorsal root ganglion, neuron PMID:17151309|REF_RGD_ID:2314035 12004229 CEP85L centrosomal protein 85 like gene DOID:0050453 lissencephaly ISO RGD:1346539 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive | ClinVar Annotator: match by term: Posterior Predominant Lissencephaly PMID:12910438|PMID:25741868|PMID:29706646|PMID:32097629|PMID:32097630 12004229 CEP85L centrosomal protein 85 like gene DOID:0050700 cardiomyopathy ISO RGD:1346539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12610310|PMID:12639993|PMID:16235537|PMID:17655857|PMID:18056057|PMID:19139388|PMID:21167350|PMID:21282613|PMID:21332051|PMID:22137083|PMID:22427649|PMID:22707725|PMID:23308118|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25593317|PMID:25611685|PMID:25741868|PMID:25928149|PMID:26535225|PMID:26573135|PMID:26688388|PMID:26917049|PMID:27532257|PMID:28492532|PMID:28600387|PMID:28790153|PMID:30242101|PMID:31705731|PMID:31737537 12004229 CEP85L centrosomal protein 85 like gene DOID:0060319 cardiac arrest ISO RGD:1346539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:12639993|PMID:16235537|PMID:17655857|PMID:21167350|PMID:21332051|PMID:22137083|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:27532257|PMID:28492532|PMID:28600387 12004229 CEP85L centrosomal protein 85 like gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1346539 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 12004229 CEP85L centrosomal protein 85 like gene DOID:0110324 hypertrophic cardiomyopathy 18 ISO RGD:1346539 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 18 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 18 PMID:12610310|PMID:12639993|PMID:12705874|PMID:16235537|PMID:16829191|PMID:17655857|PMID:21167350|PMID:21332051|PMID:21735565|PMID:22137083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:26573135|PMID:26688388|PMID:27532257|PMID:28492532|PMID:28600387|PMID:28790153|PMID:31705731|PMID:31737537 12004229 CEP85L centrosomal protein 85 like gene DOID:0110439 dilated cardiomyopathy 1P ISO RGD:1346539 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1P PMID:12610310|PMID:12639993|PMID:12705874|PMID:16235537|PMID:16829191|PMID:16897780|PMID:17655857|PMID:18056057|PMID:18241046|PMID:19139388|PMID:21167350|PMID:21282613|PMID:21332051|PMID:21735565|PMID:22137083|PMID:22427649|PMID:22707725|PMID:23308118|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24451198|PMID:24503780|PMID:24909667|PMID:25351510|PMID:25563649|PMID:25593317|PMID:25611685|PMID:25691538|PMID:25741868|PMID:25852082|PMID:25928149|PMID:26535225|PMID:26573135|PMID:26688388|PMID:26917049|PMID:27532257|PMID:28492532|PMID:28600387|PMID:28771489|PMID:28790153|PMID:29501609|PMID:30012515|PMID:30012837|PMID:30242101|PMID:30794913|PMID:30847666|PMID:30871747|PMID:31705731|PMID:31737537|PMID:33495597|PMID:35297759 12004229 CEP85L centrosomal protein 85 like gene DOID:0110786 hereditary spastic paraplegia 35 ISO RGD:1346539 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, WITH OR WITHOUT NEURODEGENERATION PMID:12610310|PMID:16829191|PMID:21735565|PMID:28492532 12004229 CEP85L centrosomal protein 85 like gene DOID:0112229 lissencephaly 10 ISO RGD:1346539 D RGD:7240710 20200527 OMIM 12004229 CEP85L centrosomal protein 85 like gene DOID:0112229 lissencephaly 10 ISO RGD:1346539 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lissencephaly 10 PMID:12910438|PMID:18241046|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29706646|PMID:32097629|PMID:32097630 12004229 CEP85L centrosomal protein 85 like gene DOID:1059 intellectual disability ISO RGD:1346539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 12004229 CEP85L centrosomal protein 85 like gene DOID:10907 microcephaly ISO RGD:1346539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 12004229 CEP85L centrosomal protein 85 like gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1346539 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:12639993|PMID:16235537|PMID:17655857|PMID:21167350|PMID:21332051|PMID:22137083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:26688388|PMID:27532257|PMID:28492532|PMID:28600387|PMID:28790153|PMID:31705731|PMID:31737537 12004229 CEP85L centrosomal protein 85 like gene DOID:12849 autistic disorder ISO RGD:1346539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:24824130 12004229 CEP85L centrosomal protein 85 like gene DOID:12930 dilated cardiomyopathy ISO RGD:1346539 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12610310|PMID:12639993|PMID:16235537|PMID:16897780|PMID:17655857|PMID:18056057|PMID:19139388|PMID:21167350|PMID:21282613|PMID:21332051|PMID:22137083|PMID:22427649|PMID:22707725|PMID:23308118|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25593317|PMID:25611685|PMID:25691538|PMID:25741868|PMID:25852082|PMID:25928149|PMID:26535225|PMID:26917049|PMID:27532257|PMID:28492532|PMID:28600387|PMID:30012515|PMID:30012837|PMID:30847666 12004229 CEP85L centrosomal protein 85 like gene DOID:14289 Ebstein anomaly ISO RGD:1346539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ebstein anomaly 12004229 CEP85L centrosomal protein 85 like gene DOID:1826 epilepsy ISO RGD:1346539 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12004229 CEP85L centrosomal protein 85 like gene DOID:630 genetic disease ISO RGD:1346539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004229 CEP85L centrosomal protein 85 like gene DOID:9000495 Tremor ISO RGD:1346539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 12004229 CEP85L centrosomal protein 85 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32097630 12004229 CEP85L centrosomal protein 85 like gene DOID:9007925 Sudden Cardiac Death ISO RGD:1346539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:12639993|PMID:16235537|PMID:17655857|PMID:21167350|PMID:21332051|PMID:22137083|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:27532257|PMID:28492532|PMID:28600387 12004257 SLC6A20 solute carrier family 6 member 20 gene DOID:0112265 iminoglycinuria ISO RGD:1603308 D RGD:9068941 20230506 CTD CTD Direct Evidence: marker/mechanism PMID:21572414 12004257 SLC6A20 solute carrier family 6 member 20 gene DOID:1059 intellectual disability ISO RGD:1603308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12004257 SLC6A20 solute carrier family 6 member 20 gene DOID:630 genetic disease ISO RGD:1603308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004257 SLC6A20 solute carrier family 6 member 20 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12004257 SLC6A20 solute carrier family 6 member 20 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1603308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12004257 SLC6A20 solute carrier family 6 member 20 gene DOID:9003566 Mesothelioma ISO RGD:1603308 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659810 12004257 SLC6A20 solute carrier family 6 member 20 gene DOID:9008487 Glycinuria with or without Oxalate Urolithiasis ISO RGD:1603308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperglycinuria PMID:19033659|PMID:25741868|PMID:28492532 12004282 TRAK2 trafficking kinesin protein 2 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1352646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12004282 TRAK2 trafficking kinesin protein 2 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1352646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12004282 TRAK2 trafficking kinesin protein 2 gene DOID:630 genetic disease ISO RGD:1352646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004282 TRAK2 trafficking kinesin protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12004282 TRAK2 trafficking kinesin protein 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1352646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12004282 TRAK2 trafficking kinesin protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12004282 TRAK2 trafficking kinesin protein 2 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1352646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12004305 SBK3 SH3 domain binding kinase family member 3 gene DOID:630 genetic disease ISO RGD:7386817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004312 TBATA thymus, brain and testes associated gene DOID:10487 Hirschsprung's disease ISO RGD:1322498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 12004312 TBATA thymus, brain and testes associated gene DOID:630 genetic disease ISO RGD:1322498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004336 MEGF9 multiple EGF like domains 9 gene DOID:630 genetic disease ISO RGD:1342735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004346 SPRYD7 SPRY domain containing 7 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1315052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12004346 SPRYD7 SPRY domain containing 7 gene DOID:1059 intellectual disability ISO RGD:1315052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12004346 SPRYD7 SPRY domain containing 7 gene DOID:630 genetic disease ISO RGD:1315052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004357 ZNF251 zinc finger protein 251 gene DOID:0050654 Baller-Gerold syndrome ISO RGD:1322438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:12734318|PMID:12952869|PMID:28492532 12004357 ZNF251 zinc finger protein 251 gene DOID:630 genetic disease ISO RGD:1322438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004385 ZC3H12C zinc finger CCCH-type containing 12C gene DOID:0110034 X-linked Alport syndrome ISO RGD:1602083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked Alport syndrome PMID:25741868 12004385 ZC3H12C zinc finger CCCH-type containing 12C gene DOID:1059 intellectual disability ISO RGD:1602083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12004385 ZC3H12C zinc finger CCCH-type containing 12C gene DOID:12704 ataxia telangiectasia ISO RGD:1602083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12004385 ZC3H12C zinc finger CCCH-type containing 12C gene DOID:630 genetic disease ISO RGD:1602083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004385 ZC3H12C zinc finger CCCH-type containing 12C gene DOID:8893 psoriasis ISO RGD:1602083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143594 12004385 ZC3H12C zinc finger CCCH-type containing 12C gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1602083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12004395 SP3 Sp3 transcription factor gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1319818 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12004395 SP3 Sp3 transcription factor gene DOID:630 genetic disease ISO RGD:1319818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004404 TRPM5 transient receptor potential cation channel subfamily M member 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1321629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12004404 TRPM5 transient receptor potential cation channel subfamily M member 5 gene DOID:0080773 delta beta-thalassemia ISO RGD:1321629 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12004404 TRPM5 transient receptor potential cation channel subfamily M member 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1321629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12004404 TRPM5 transient receptor potential cation channel subfamily M member 5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1321629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12004404 TRPM5 transient receptor potential cation channel subfamily M member 5 gene DOID:630 genetic disease ISO RGD:1321629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004404 TRPM5 transient receptor potential cation channel subfamily M member 5 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1321629 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12004456 OTUD6A OTU deubiquitinase 6A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12004456 OTUD6A OTU deubiquitinase 6A gene DOID:12849 autistic disorder ISO RGD:1605871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12004456 OTUD6A OTU deubiquitinase 6A gene DOID:630 genetic disease ISO RGD:1605871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004461 PDCL3 phosducin like 3 gene DOID:630 genetic disease ISO RGD:1320124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004471 POU3F2 POU class 3 homeobox 2 gene DOID:3312 bipolar disorder ISO RGD:1351786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 12004471 POU3F2 POU class 3 homeobox 2 gene DOID:630 genetic disease ISO RGD:1351786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004478 THBD thrombomodulin gene DOID:0050156 idiopathic pulmonary fibrosis severity ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:20418386|REF_RGD_ID:5685036 12004478 THBD thrombomodulin gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16206674 12004478 THBD thrombomodulin gene DOID:0060903 thrombosis ISO RGD:1349382 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thrombus PMID:25741868 12004478 THBD thrombomodulin gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1349382 D RGD:7240710 20230517 OMIM 12004478 THBD thrombomodulin gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1349382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome PMID:10460600|PMID:11245641|PMID:11986219|PMID:12139752|PMID:15574195|PMID:17677000|PMID:19625716|PMID:23332921|PMID:24933457|PMID:25135378|PMID:25741868|PMID:28492532|PMID:7811989|PMID:9157575|PMID:9236408 12004478 THBD thrombomodulin gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1349382 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome PMID:10460600|PMID:11245641|PMID:11986219|PMID:12139752|PMID:15574195|PMID:17677000|PMID:19625716|PMID:23314101|PMID:23332921|PMID:24933457|PMID:25135378|PMID:25741868|PMID:28492532|PMID:31064749|PMID:34355501|PMID:7811989|PMID:9157575|PMID:9236408 12004478 THBD thrombomodulin gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1349382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:10460600|PMID:11245641|PMID:11986219|PMID:12139752|PMID:15574195|PMID:17677000|PMID:19625716|PMID:23314101|PMID:23332921|PMID:24933457|PMID:25135378|PMID:25741868|PMID:28492532|PMID:28939980|PMID:31064749|PMID:31118930|PMID:34355501|PMID:7811989|PMID:9157575|PMID:9198186|PMID:9236408 12004478 THBD thrombomodulin gene DOID:0080301 atypical hemolytic-uremic syndrome no_association ISO RGD:1349382 D RGD:9068941 20200609 RGD DNA:SNPs:5' utr, 3' utr:multiple PMID:19625716|REF_RGD_ID:11038691 12004478 THBD thrombomodulin gene DOID:0080301 atypical hemolytic-uremic syndrome severity ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:20595690|REF_RGD_ID:11038684 12004478 THBD thrombomodulin gene DOID:0111908 thrombophilia due to thrombomodulin defect ISO RGD:1349382 D RGD:7240710 20230517 OMIM 12004478 THBD thrombomodulin gene DOID:0111908 thrombophilia due to thrombomodulin defect ISO RGD:1349382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombomodulin-related bleeding disorder | ClinVar Annotator: match by term: Thrombophilia due to thrombomodulin defect PMID:10195941|PMID:10460600|PMID:10627464|PMID:11078228|PMID:11986219|PMID:12139752|PMID:19625716|PMID:23314101|PMID:23332921|PMID:24933457|PMID:25135378|PMID:25741868|PMID:28492532|PMID:28939980|PMID:31118930|PMID:34355501|PMID:7811989|PMID:9198186|PMID:9236408|PMID:9364978|PMID:9843165 12004478 THBD thrombomodulin gene DOID:0112313 brain small vessel disease severity ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:artery endothelium PMID:22170884|REF_RGD_ID:5684978 12004478 THBD thrombomodulin gene DOID:10223 dermatomyositis ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:17899683|REF_RGD_ID:5685006 12004478 THBD thrombomodulin gene DOID:10652 Alzheimer's disease ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:15760641|REF_RGD_ID:5685018 12004478 THBD thrombomodulin gene DOID:10763 hypertension ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:16095049|REF_RGD_ID:5685017 12004478 THBD thrombomodulin gene DOID:10763 hypertension ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17401180|REF_RGD_ID:1601636 12004478 THBD thrombomodulin gene DOID:10763 hypertension ISO RGD:621299 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:12611420|REF_RGD_ID:1601652 12004478 THBD thrombomodulin gene DOID:10763 hypertension treatment ISO RGD:621299 D RGD:9068941 20200609 RGD associated with Experimental Diabetes Mellitus PMID:14737039|REF_RGD_ID:1601646 12004478 THBD thrombomodulin gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7740478 12004478 THBD thrombomodulin gene DOID:11247 disseminated intravascular coagulation ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9134660 12004478 THBD thrombomodulin gene DOID:11247 disseminated intravascular coagulation ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:21569368|REF_RGD_ID:5685034 12004478 THBD thrombomodulin gene DOID:11247 disseminated intravascular coagulation treatment ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:23952647|REF_RGD_ID:11038686 12004478 THBD thrombomodulin gene DOID:11394 adult respiratory distress syndrome ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12707536 12004478 THBD thrombomodulin gene DOID:11394 adult respiratory distress syndrome ISO RGD:621299 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:12707536|REF_RGD_ID:1601651 12004478 THBD thrombomodulin gene DOID:12132 granulomatosis with polyangiitis ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20156770|REF_RGD_ID:5684985 12004478 THBD thrombomodulin gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1553030 D RGD:9068941 20200609 RGD PMID:22942429|REF_RGD_ID:11038690 12004478 THBD thrombomodulin gene DOID:13809 familial combined hyperlipidemia ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:15262191|REF_RGD_ID:1601645 12004478 THBD thrombomodulin gene DOID:1459 hypothyroidism ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:22985614|REF_RGD_ID:11038688 12004478 THBD thrombomodulin gene DOID:1588 thrombocytopenia ISO RGD:1349382 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532 12004478 THBD thrombomodulin gene DOID:1875 impotence ISO RGD:1349382 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:11596671|REF_RGD_ID:2312459 12004478 THBD thrombomodulin gene DOID:2213 hemorrhagic disease ISO RGD:1349382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532|PMID:31064749 12004478 THBD thrombomodulin gene DOID:2452 thrombophilia ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12139752 12004478 THBD thrombomodulin gene DOID:2452 thrombophilia ISO RGD:1553030 D RGD:9068941 20220825 MouseDO OMIM:188050 | OMIM:614486 12004478 THBD thrombomodulin gene DOID:2841 asthma ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:20709825|REF_RGD_ID:5684984 12004478 THBD thrombomodulin gene DOID:2945 severe acute respiratory syndrome ISO RGD:1349382 D RGD:9068941 20200625 RGD protein:increased expression:plasma (human) PMID:16274108|REF_RGD_ID:30309949 12004478 THBD thrombomodulin gene DOID:2987 familial Mediterranean fever ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:17067436|REF_RGD_ID:5685013 12004478 THBD thrombomodulin gene DOID:3021 acute kidney failure ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:17804460|REF_RGD_ID:5685010 12004478 THBD thrombomodulin gene DOID:3021 acute kidney failure treatment ISO RGD:621299 D RGD:9068941 20200609 RGD PMID:19176699|REF_RGD_ID:5684994 12004478 THBD thrombomodulin gene DOID:326 ischemia ISO RGD:621299 D RGD:9068941 20200609 RGD PMID:19461288|REF_RGD_ID:2312461 12004478 THBD thrombomodulin gene DOID:3393 coronary artery disease severity ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:17012137|REF_RGD_ID:1601638 12004478 THBD thrombomodulin gene DOID:3410 carotid artery thrombosis ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:21885846|REF_RGD_ID:5684980 12004478 THBD thrombomodulin gene DOID:3526 cerebral infarction susceptibility ISO RGD:1349382 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.A455V (human) PMID:15574195|REF_RGD_ID:5685021 12004478 THBD thrombomodulin gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:20607726|REF_RGD_ID:5685035 12004478 THBD thrombomodulin gene DOID:409 liver disease ISO RGD:1349382 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:19487933|REF_RGD_ID:5684988 12004478 THBD thrombomodulin gene DOID:557 kidney disease ISO RGD:1349382 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:10460600|PMID:11986219|PMID:12139752|PMID:25741868|PMID:28492532|PMID:7811989 12004478 THBD thrombomodulin gene DOID:5844 myocardial infarction ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10627464|PMID:9843165 12004478 THBD thrombomodulin gene DOID:630 genetic disease ISO RGD:1349382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12004478 THBD thrombomodulin gene DOID:6432 pulmonary hypertension ISO RGD:1349382 D RGD:9068941 20200609 RGD associated with Mixed Connective Tissue Disease PMID:16784493|REF_RGD_ID:1601639 12004478 THBD thrombomodulin gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15209962|REF_RGD_ID:5685023 12004478 THBD thrombomodulin gene DOID:7147 ankylosing spondylitis ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21556780|REF_RGD_ID:5684983 12004478 THBD thrombomodulin gene DOID:7148 rheumatoid arthritis ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:15700117|REF_RGD_ID:5685020 12004478 THBD thrombomodulin gene DOID:783 end stage renal disease ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21873362|REF_RGD_ID:5684981 12004478 THBD thrombomodulin gene DOID:783 end stage renal disease ISO RGD:1553030 D RGD:9068941 20200609 RGD PMID:22129968|REF_RGD_ID:5684979 12004478 THBD thrombomodulin gene DOID:8577 ulcerative colitis ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:decreased expression:colon, blood vessel PMID:17557119|REF_RGD_ID:5685011 12004478 THBD thrombomodulin gene DOID:8778 Crohn's disease ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:decreased expression:colon, blood vessel PMID:17557119|REF_RGD_ID:5685011 12004478 THBD thrombomodulin gene DOID:9000039 Spinal Cord Injuries ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:15307903|REF_RGD_ID:1580060 12004478 THBD thrombomodulin gene DOID:9000169 Systemic Inflammatory Response Syndrome ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:15187749|REF_RGD_ID:5685024 12004478 THBD thrombomodulin gene DOID:9000217 Stomach Neoplasms ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12004478 THBD thrombomodulin gene DOID:9000528 Coronary Disease ISO RGD:1349382 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:17200788|REF_RGD_ID:2312456 12004478 THBD thrombomodulin gene DOID:9000998 Brain Injuries onset ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:17895610|REF_RGD_ID:5685007 12004478 THBD thrombomodulin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12004478 THBD thrombomodulin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621299 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:21112949|REF_RGD_ID:5685038 12004478 THBD thrombomodulin gene DOID:9002211 Hyperalgesia ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27474498 12004478 THBD thrombomodulin gene DOID:9002211 Hyperalgesia treatment ISO RGD:1349382 D RGD:9068941 20200609 RGD associated with Inflammation PMID:24004409|REF_RGD_ID:11038687 12004478 THBD thrombomodulin gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:21812019|REF_RGD_ID:5685033 12004478 THBD thrombomodulin gene DOID:9002457 Experimental Arthritis ISO RGD:1553030 D RGD:9068941 20200609 RGD PMID:16879225|REF_RGD_ID:5685015 12004478 THBD thrombomodulin gene DOID:9002906 Multiple Organ Failure treatment ISO RGD:1349382 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:8665042|REF_RGD_ID:11038715 12004478 THBD thrombomodulin gene DOID:9003121 Thromboembolism treatment ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:24098750|REF_RGD_ID:11038685 12004478 THBD thrombomodulin gene DOID:9004009 Reperfusion Injury ISO RGD:1553030 D RGD:9068941 20200609 RGD PMID:19342415|REF_RGD_ID:5131887 12004478 THBD thrombomodulin gene DOID:9004484 Sepsis ISO RGD:621299 D RGD:9068941 20200609 RGD PMID:17577447|REF_RGD_ID:2312462 12004478 THBD thrombomodulin gene DOID:9004590 Acute Liver Failure ISO RGD:621299 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11882417|REF_RGD_ID:1601654 12004478 THBD thrombomodulin gene DOID:9004610 Acute Lung Injury ISO RGD:1349382 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:19536047|REF_RGD_ID:5685372 12004478 THBD thrombomodulin gene DOID:9004610 Acute Lung Injury ISO RGD:1553030 D RGD:9068941 20200609 RGD PMID:19342415|REF_RGD_ID:5131887 12004478 THBD thrombomodulin gene DOID:9004610 Acute Lung Injury treatment ISO RGD:621299 D RGD:9068941 20200609 RGD PMID:20095324|REF_RGD_ID:13515130 12004478 THBD thrombomodulin gene DOID:9004649 Heat Stroke ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:20160670|REF_RGD_ID:5684987 12004478 THBD thrombomodulin gene DOID:9004974 Painful Neuropathy ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27474498 12004478 THBD thrombomodulin gene DOID:9005372 Inflammation treatment ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:24004409|REF_RGD_ID:11038687 12004478 THBD thrombomodulin gene DOID:9005930 Endotoxemia ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:19487933|REF_RGD_ID:5684988 12004478 THBD thrombomodulin gene DOID:9005930 Endotoxemia ISO RGD:1553030 D RGD:9068941 20200609 RGD PMID:20348393|REF_RGD_ID:5685037 12004478 THBD thrombomodulin gene DOID:9005930 Endotoxemia ISO RGD:621299 D RGD:9068941 20200609 RGD mRNA:decreased expression:endothelial cell PMID:12611420|REF_RGD_ID:1601652 12004478 THBD thrombomodulin gene DOID:9006646 Metabolic Syndrome ISO RGD:1349382 D RGD:9068941 20200609 RGD associated with Diabetic Nephropathies;protein:increased expression:plasma PMID:16567841|REF_RGD_ID:1601641 12004478 THBD thrombomodulin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27474498 12004478 THBD thrombomodulin gene DOID:9007096 Stroke ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:20581778|PMID:21645225|REF_RGD_ID:5684982|REF_RGD_ID:5684986 12004478 THBD thrombomodulin gene DOID:9007479 Habitual Abortions susceptibility ISO RGD:1349382 D RGD:9068941 20200609 RGD DNA:SNP: :1418C>T (human) PMID:23954867|REF_RGD_ID:11038683 12004478 THBD thrombomodulin gene DOID:9007692 Insulin Resistance ISO RGD:1349382 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:11453033|REF_RGD_ID:2312460 12004478 THBD thrombomodulin gene DOID:9008609 Endotoxin-Induced Uveitis treatment ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:22001200|REF_RGD_ID:11038716 12004478 THBD thrombomodulin gene DOID:9074 systemic lupus erythematosus ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18484695|REF_RGD_ID:5684995 12004478 THBD thrombomodulin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:17195062|REF_RGD_ID:2312457 12004478 THBD thrombomodulin gene DOID:9352 type 2 diabetes mellitus ISO RGD:621299 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood vessel endothelial cell PMID:17090405|REF_RGD_ID:1601648 12004478 THBD thrombomodulin gene DOID:9352 type 2 diabetes mellitus disease_progression ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:11738074|REF_RGD_ID:2312458 12004478 THBD thrombomodulin gene DOID:9477 pulmonary embolism ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7811989 12004478 THBD thrombomodulin gene DOID:9744 type 1 diabetes mellitus disease_progression ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:11738074|REF_RGD_ID:2312458 12004478 THBD thrombomodulin gene DOID:9970 obesity severity ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16651309|REF_RGD_ID:1601640 12004484 NPEPPS aminopeptidase puromycin sensitive gene DOID:630 genetic disease ISO RGD:1354170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004510 ANO9 anoctamin 9 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12004510 ANO9 anoctamin 9 gene DOID:0111969 immunodeficiency 39 ISO RGD:1345920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12004510 ANO9 anoctamin 9 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12004510 ANO9 anoctamin 9 gene DOID:10283 prostate cancer ISO RGD:1345920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12004510 ANO9 anoctamin 9 gene DOID:630 genetic disease ISO RGD:1345920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004536 TMEM63B transmembrane protein 63B gene DOID:630 genetic disease ISO RGD:1314147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004580 WDR3 WD repeat domain 3 gene DOID:3969 thyroid gland papillary carcinoma susceptibility ISO RGD:1316699 D RGD:9068941 20200609 RGD DNA:snps, haplotype:introns: c.500+239G>A, c.*1-2382A>C (rs3765501, rs4658973) (human) PMID:20578902|REF_RGD_ID:11041898 12004580 WDR3 WD repeat domain 3 gene DOID:630 genetic disease ISO RGD:1316699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004620 RIBC2 RIB43A domain with coiled-coils 2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1351194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12004620 RIBC2 RIB43A domain with coiled-coils 2 gene DOID:1059 intellectual disability ISO RGD:1351194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12004620 RIBC2 RIB43A domain with coiled-coils 2 gene DOID:630 genetic disease ISO RGD:1351194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004620 RIBC2 RIB43A domain with coiled-coils 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1351194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 12004631 PUS3 pseudouridine synthase 3 gene DOID:0050779 hydrolethalus syndrome ISO RGD:1345902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrolethalus syndrome PMID:15843405|PMID:18648327|PMID:19400947|PMID:19656802|PMID:25741868|PMID:28492532 12004631 PUS3 pseudouridine synthase 3 gene DOID:0060668 anencephaly ISO RGD:1345902 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Anencephaly PMID:25741868|PMID:27055666|PMID:31680349 12004631 PUS3 pseudouridine synthase 3 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1345902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12004631 PUS3 pseudouridine synthase 3 gene DOID:0111355 hydrolethalus syndrome 1 ISO RGD:1345902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrolethalus syndrome 1 PMID:15843405|PMID:18648327|PMID:19400947|PMID:19656802|PMID:25741868|PMID:28492532 12004631 PUS3 pseudouridine synthase 3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1345902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12004631 PUS3 pseudouridine synthase 3 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1345902 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dandy-Walker malformation PMID:25741868|PMID:28492532|PMID:30697592|PMID:31474318 12004631 PUS3 pseudouridine synthase 3 gene DOID:5419 schizophrenia ISO RGD:1345902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12004631 PUS3 pseudouridine synthase 3 gene DOID:630 genetic disease ISO RGD:1345902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12004631 PUS3 pseudouridine synthase 3 gene DOID:9000355 Neurodevelopmental Disorder with Microcephaly and Gray Sclerae ISO RGD:1345902 D RGD:7240710 20190315 OMIM 12004631 PUS3 pseudouridine synthase 3 gene DOID:9000355 Neurodevelopmental Disorder with Microcephaly and Gray Sclerae ISO RGD:1345902 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE PMID:25741868|PMID:27055666|PMID:28454995|PMID:28492532|PMID:30697592|PMID:31444731|PMID:31474318|PMID:34415064 12004631 PUS3 pseudouridine synthase 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12004631 PUS3 pseudouridine synthase 3 gene DOID:9007661 Dwarfism ISO RGD:1345902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12004649 BICC1 BicC family RNA binding protein 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1316666 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 12004649 BICC1 BicC family RNA binding protein 1 gene DOID:0080205 CAKUT ISO RGD:1316665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 12004649 BICC1 BicC family RNA binding protein 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1316666 D RGD:9068941 20220825 MouseDO OMIM:263200 12004649 BICC1 BicC family RNA binding protein 1 gene DOID:0111682 diffuse cystic renal dysplasia ISO RGD:1316665 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal dysplasia, cystic, susceptibility to PMID:21922595|PMID:25741868|PMID:28492532 12004649 BICC1 BicC family RNA binding protein 1 gene DOID:0111682 diffuse cystic renal dysplasia susceptibility ISO RGD:1316665 D RGD:7240710 20200219 OMIM 12004649 BICC1 BicC family RNA binding protein 1 gene DOID:14766 renal agenesis ISO RGD:1316665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal agenesis PMID:25741868|PMID:35005812 12004649 BICC1 BicC family RNA binding protein 1 gene DOID:2975 cystic kidney disease ISO RGD:1316666 D RGD:9068941 20220825 MouseDO 12004649 BICC1 BicC family RNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1316665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12004649 BICC1 BicC family RNA binding protein 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1316666 D RGD:9068941 20220825 MouseDO 12004668 IRGQ immunity related GTPase Q gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1606733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12004668 IRGQ immunity related GTPase Q gene DOID:10283 prostate cancer ISO RGD:1606733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12004668 IRGQ immunity related GTPase Q gene DOID:5419 schizophrenia ISO RGD:1606733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12004668 IRGQ immunity related GTPase Q gene DOID:630 genetic disease ISO RGD:1606733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004675 ANKRD1 ankyrin repeat domain 1 gene DOID:0050451 Brugada syndrome ISO RGD:1348352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 12004675 ANKRD1 ankyrin repeat domain 1 gene DOID:0050700 cardiomyopathy ISO RGD:1348352 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:17576681|PMID:19525294|PMID:19608030|PMID:19608031|PMID:22337857|PMID:22388920|PMID:22892539|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532|PMID:30659708|PMID:30847666|PMID:31983221|PMID:9536098 12004675 ANKRD1 ankyrin repeat domain 1 gene DOID:0060480 left ventricular noncompaction ISO RGD:1348352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:25741868|PMID:28492532 12004675 ANKRD1 ankyrin repeat domain 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1348352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:19525294|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12004675 ANKRD1 ankyrin repeat domain 1 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1348352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:16199547|PMID:19525294|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12004675 ANKRD1 ankyrin repeat domain 1 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1348352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:19608031|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:25089522|PMID:25741868|PMID:27143260|PMID:28492532|PMID:28672880|PMID:31737537 12004675 ANKRD1 ankyrin repeat domain 1 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1348352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:19608031|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:25089522|PMID:25741868|PMID:27143260|PMID:28492532|PMID:28672880|PMID:31737537 12004675 ANKRD1 ankyrin repeat domain 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1348352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:19608031|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:25089522|PMID:25741868|PMID:27143260|PMID:28492532|PMID:28672880|PMID:31737537 12004675 ANKRD1 ankyrin repeat domain 1 gene DOID:12377 spinal muscular atrophy ISO RGD:1348352 D RGD:9068941 20200609 RGD PMID:14516314|REF_RGD_ID:1578366 12004675 ANKRD1 ankyrin repeat domain 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17576681|PMID:18273862|PMID:19525294|PMID:19608030|PMID:19608031|PMID:21520333|PMID:22337857|PMID:22388920|PMID:22892539|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25089522|PMID:25741868|PMID:27143260|PMID:27532257|PMID:28166811|PMID:28492532|PMID:28672880|PMID:28794111|PMID:29447731|PMID:30847666|PMID:9536098 12004675 ANKRD1 ankyrin repeat domain 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348352 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17576681|PMID:18273862|PMID:19525294|PMID:19608030|PMID:19608031|PMID:21520333|PMID:22337857|PMID:22388920|PMID:22892539|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25089522|PMID:25741868|PMID:27143260|PMID:28166811|PMID:28492532|PMID:28672880|PMID:28794111|PMID:29447731|PMID:30847666|PMID:31737537|PMID:31983221|PMID:32880476|PMID:9536098 12004675 ANKRD1 ankyrin repeat domain 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17576681|PMID:18273862|PMID:19525294|PMID:19589340|PMID:19608030|PMID:19608031|PMID:21520333|PMID:22337857|PMID:22388920|PMID:22892539|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25089522|PMID:25741868|PMID:27114410|PMID:27143260|PMID:27532257|PMID:28492532|PMID:28672880|PMID:28794111|PMID:29447731|PMID:30659708|PMID:30847666|PMID:31737537|PMID:31983221|PMID:32880476|PMID:9536098 12004675 ANKRD1 ankyrin repeat domain 1 gene DOID:2843 long QT syndrome ISO RGD:1348352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24033266|PMID:25741868|PMID:28492532 12004675 ANKRD1 ankyrin repeat domain 1 gene DOID:289 endometriosis ISO RGD:1348352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12004675 ANKRD1 ankyrin repeat domain 1 gene DOID:3191 nemaline myopathy ISO RGD:1348352 D RGD:9068941 20200609 RGD PMID:14516314|REF_RGD_ID:1578366 12004675 ANKRD1 ankyrin repeat domain 1 gene DOID:422 congenital structural myopathy ISO RGD:1348352 D RGD:9068941 20200609 RGD PMID:14516314|REF_RGD_ID:1578366 12004675 ANKRD1 ankyrin repeat domain 1 gene DOID:4297 scimitar syndrome ISO RGD:1348352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1 | ClinVar Annotator: match by term: Total anomalous pulmonary venous return PMID:19525294|PMID:19608031|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12004675 ANKRD1 ankyrin repeat domain 1 gene DOID:630 genetic disease ISO RGD:1348352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12004675 ANKRD1 ankyrin repeat domain 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:61989 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord, dorsal root ganglion, neuron PMID:17610582|REF_RGD_ID:5133279 12004675 ANKRD1 ankyrin repeat domain 1 gene DOID:9001600 Wounds and Injuries ISO RGD:62281 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:multiple PMID:15632022|REF_RGD_ID:5133280 12004675 ANKRD1 ankyrin repeat domain 1 gene DOID:9003936 Cardiomegaly ISO RGD:61989 D RGD:9068941 20200609 RGD PMID:10904011|REF_RGD_ID:1578370 12004675 ANKRD1 ankyrin repeat domain 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:61989 D RGD:9068941 20200609 RGD protein:decreased expression:myocardium PMID:19299913|REF_RGD_ID:5133278 12004675 ANKRD1 ankyrin repeat domain 1 gene DOID:9651 systolic heart failure ISO RGD:1348352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systolic heart failure PMID:19525294|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12004693 GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 gene DOID:0080606 anterior segment dysgenesis 1 ISO RGD:1316187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES | ClinVar Annotator: match by term: Anterior segment dysgenesis 1 PMID:10361984|PMID:15286169|PMID:17888164|PMID:18989383|PMID:24555714|PMID:25741868|PMID:28492532|PMID:29405783|PMID:6801987|PMID:9620774 12004693 GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 gene DOID:0110202 Charcot-Marie-Tooth disease dominant intermediate A ISO RGD:1316187 D RGD:7240710 20211110 OMIM 12004693 GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 gene DOID:0110202 Charcot-Marie-Tooth disease dominant intermediate A ISO RGD:1316187 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Disease, axonal, type 2GG PMID:25741868|PMID:28492532|PMID:32937143 12004693 GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 gene DOID:0110249 cataract 11 multiple types ISO RGD:1316187 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cataract 11 multiple types | ClinVar Annotator: match by term: Cataract 11, posterior polar PMID:10361984|PMID:15286169|PMID:16565358|PMID:17888164|PMID:18989383|PMID:24555714|PMID:25741868|PMID:28492532|PMID:29405783|PMID:6801987|PMID:9620774 12004693 GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 gene DOID:630 genetic disease ISO RGD:1316187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004693 GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 gene DOID:7319 axonal neuropathy ISO RGD:1316187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Motor axonal neuropathy PMID:32937143 12004693 GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 gene DOID:9005728 Posterior Polar Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities ISO RGD:1316187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities PMID:15286169|PMID:16565358 12004744 NXT2 nuclear transport factor 2 like export factor 2 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1350653 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 12004744 NXT2 nuclear transport factor 2 like export factor 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12004744 NXT2 nuclear transport factor 2 like export factor 2 gene DOID:12849 autistic disorder ISO RGD:1350653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12004744 NXT2 nuclear transport factor 2 like export factor 2 gene DOID:630 genetic disease ISO RGD:1350653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004760 BHMT betaine--homocysteine S-methyltransferase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1346951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17119116 12004760 BHMT betaine--homocysteine S-methyltransferase gene DOID:0080074 neural tube defect ISO RGD:1346951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17035141 12004760 BHMT betaine--homocysteine S-methyltransferase gene DOID:630 genetic disease ISO RGD:1346951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004760 BHMT betaine--homocysteine S-methyltransferase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1346951 D RGD:9068941 20220616 RGD associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 12004760 BHMT betaine--homocysteine S-methyltransferase gene DOID:893 Wilson disease ISO RGD:1346951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 12004760 BHMT betaine--homocysteine S-methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12004760 BHMT betaine--homocysteine S-methyltransferase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23665415 12004760 BHMT betaine--homocysteine S-methyltransferase gene DOID:9667 placental abruption ISO RGD:1346951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17376725 12004772 TRIM47 tripartite motif containing 47 gene DOID:630 genetic disease ISO RGD:1322764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004772 TRIM47 tripartite motif containing 47 gene DOID:9002170 Experimental Neoplasms ISO RGD:1322764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31981573 12004772 TRIM47 tripartite motif containing 47 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1322764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31981573 12004772 TRIM47 tripartite motif containing 47 gene DOID:9008939 Breast Neoplasms ISO RGD:1322764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31981573 12004782 CTNND1 catenin delta 1 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1313793 D RGD:9068941 20200609 RGD PMID:26464646|REF_RGD_ID:11526681 12004782 CTNND1 catenin delta 1 gene DOID:0080346 blepharocheilodontic syndrome 2 ISO RGD:1313793 D RGD:7240710 20190315 OMIM 12004782 CTNND1 catenin delta 1 gene DOID:0080346 blepharocheilodontic syndrome 2 ISO RGD:1313793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2 PMID:25741868|PMID:28301459|PMID:29805042 12004782 CTNND1 catenin delta 1 gene DOID:0080600 COVID-19 ISO RGD:1313793 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12004782 CTNND1 catenin delta 1 gene DOID:1059 intellectual disability ISO RGD:1313793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12004782 CTNND1 catenin delta 1 gene DOID:630 genetic disease ISO RGD:1313793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004782 CTNND1 catenin delta 1 gene DOID:6432 pulmonary hypertension treatment ISO RGD:1305643 D RGD:9068941 20200924 RGD PMID:25593290|REF_RGD_ID:38500244 12004782 CTNND1 catenin delta 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1313793 D RGD:9068941 20200924 RGD protein:decreased expression:lung PMID:25593290|REF_RGD_ID:38500244 12004782 CTNND1 catenin delta 1 gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:1305643 D RGD:9068941 20200924 RGD PMID:25593290|REF_RGD_ID:38500244 12004782 CTNND1 catenin delta 1 gene DOID:9296 cleft lip ISO RGD:1313793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft lip with or without cleft palate PMID:25741868|PMID:29805042 12004841 DVL2 dishevelled segment polarity protein 2 gene DOID:0060770 dextro-looped transposition of the great arteries ISO RGD:1320220 D RGD:9068941 20220825 MouseDO 12004841 DVL2 dishevelled segment polarity protein 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1320219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:10077518|PMID:11590124|PMID:14517516|PMID:17374501|PMID:17999356|PMID:18227065|PMID:21932095|PMID:25741868|PMID:26453363|PMID:27246109|PMID:28492532|PMID:9839948|PMID:9973285 12004841 DVL2 dishevelled segment polarity protein 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1320219 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12004841 DVL2 dishevelled segment polarity protein 2 gene DOID:1059 intellectual disability ISO RGD:1320219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12004841 DVL2 dishevelled segment polarity protein 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1320219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12004841 DVL2 dishevelled segment polarity protein 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1320219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12004841 DVL2 dishevelled segment polarity protein 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1320219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12004841 DVL2 dishevelled segment polarity protein 2 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1320219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 12004841 DVL2 dishevelled segment polarity protein 2 gene DOID:630 genetic disease ISO RGD:1320219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004866 PIP prolactin induced protein gene DOID:0050127 sinusitis ISO RGD:1351325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18391768 12004866 PIP prolactin induced protein gene DOID:630 genetic disease ISO RGD:1351325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004874 ARHGEF38 Rho guanine nucleotide exchange factor 38 gene DOID:630 genetic disease ISO RGD:1603216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004892 BEX4 brain expressed X-linked 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12004892 BEX4 brain expressed X-linked 4 gene DOID:12849 autistic disorder ISO RGD:1352390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12004892 BEX4 brain expressed X-linked 4 gene DOID:13580 cholestasis ISO RGD:1352390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 12004892 BEX4 brain expressed X-linked 4 gene DOID:630 genetic disease ISO RGD:1352390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004900 CCDC85A coiled-coil domain containing 85A gene DOID:630 genetic disease ISO RGD:1605892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004915 MYO19 myosin XIX gene DOID:0060041 autism spectrum disorder ISO RGD:1352895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 12004915 MYO19 myosin XIX gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1352895 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 12004915 MYO19 myosin XIX gene DOID:12849 autistic disorder ISO RGD:1352895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12004915 MYO19 myosin XIX gene DOID:5419 schizophrenia ISO RGD:1352895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12004915 MYO19 myosin XIX gene DOID:630 genetic disease ISO RGD:1352895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30679815 12004915 MYO19 myosin XIX gene DOID:674 cleft palate ISO RGD:1352895 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:25741868|PMID:28492532 12004915 MYO19 myosin XIX gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12004915 MYO19 myosin XIX gene DOID:9006834 Glycosylphosphatidylinositol Deficiency ISO RGD:1352895 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 PMID:25741868 12004915 MYO19 myosin XIX gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:1352895 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:24367057|PMID:25741868|PMID:27626616|PMID:28492532|PMID:30679815|PMID:30813920|PMID:32198969|PMID:32466763 12004915 MYO19 myosin XIX gene DOID:9008086 Developmental Disabilities ISO RGD:1352895 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 12004952 FBXO28 F-box protein 28 gene DOID:1540 parathyroid carcinoma ISO RGD:1312107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12004952 FBXO28 F-box protein 28 gene DOID:630 genetic disease ISO RGD:1312107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356899|PMID:33280099 12004952 FBXO28 F-box protein 28 gene DOID:9003577 Developmental and Epileptic Encephalopathy 100 ISO RGD:1312107 D RGD:7240710 20220316 OMIM 12004952 FBXO28 F-box protein 28 gene DOID:9003577 Developmental and Epileptic Encephalopathy 100 ISO RGD:1312107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 100 PMID:25356899|PMID:33280099 12004952 FBXO28 F-box protein 28 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12004963 ZNHIT3 zinc finger HIT-type containing 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1315114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 12004963 ZNHIT3 zinc finger HIT-type containing 3 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1315114 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 12004963 ZNHIT3 zinc finger HIT-type containing 3 gene DOID:0080539 PEHO syndrome ISO RGD:1315114 D RGD:7240710 20190315 OMIM 12004963 ZNHIT3 zinc finger HIT-type containing 3 gene DOID:0080539 PEHO syndrome ISO RGD:1315114 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: PEHO syndrome PMID:25741868|PMID:28335020|PMID:28492532|PMID:31048081 12004963 ZNHIT3 zinc finger HIT-type containing 3 gene DOID:12849 autistic disorder ISO RGD:1315114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12004963 ZNHIT3 zinc finger HIT-type containing 3 gene DOID:5419 schizophrenia ISO RGD:1315114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12004963 ZNHIT3 zinc finger HIT-type containing 3 gene DOID:630 genetic disease ISO RGD:1315114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12004963 ZNHIT3 zinc finger HIT-type containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12004974 NHEJ1 non-homologous end joining factor 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1602683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12004974 NHEJ1 non-homologous end joining factor 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1602683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12004974 NHEJ1 non-homologous end joining factor 1 gene DOID:0111816 syndactyly type 1 ISO RGD:1602683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndactyly type 1 12004974 NHEJ1 non-homologous end joining factor 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1602683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12004974 NHEJ1 non-homologous end joining factor 1 gene DOID:1148 polydactyly ISO RGD:1602683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 12004974 NHEJ1 non-homologous end joining factor 1 gene DOID:1417 choroid disease ISO RGD:12356698 D RGD:9068941 20230330 OMIA Collie eye anomaly PMID:10701187|PMID:10879403|PMID:11327669|PMID:120471|PMID:12809679|PMID:14268789|PMID:14437837|PMID:16178848|PMID:17204124|PMID:17916641|PMID:19946851|PMID:20807925|PMID:22051190|PMID:22065099|PMID:24939474|PMID:26346323|PMID:26732749|PMID:27387721|PMID:28702949|PMID:29111596|PMID:31684941|PMID:34544496|PMID:35092136|PMID:35127102|PMID:35369581|PMID:36848350|PMID:4631461|PMID:480920|PMID:4959239|PMID:4980211|PMID:4980212|PMID:4992161|PMID:4994718|PMID:5884039|PMID:5949333|PMID:6777963|PMID:6787732|PMID:6812274|PMID:7147637|PMID:9800301 12004974 NHEJ1 non-homologous end joining factor 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1602683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12004974 NHEJ1 non-homologous end joining factor 1 gene DOID:630 genetic disease ISO RGD:1602683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12004974 NHEJ1 non-homologous end joining factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12004974 NHEJ1 non-homologous end joining factor 1 gene DOID:9007485 Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation ISO RGD:1602683 D RGD:7240710 20180130 OMIM 12004974 NHEJ1 non-homologous end joining factor 1 gene DOID:9007485 Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation ISO RGD:1602683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NHEJ1 SYNDROME | ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation | ClinVar Annotator: match by term: Severe combined immunodeficiency with sensitivity to ionizing radiation due to NHEJ1 deficiency PMID:12604777|PMID:16199547|PMID:16439204|PMID:16439205|PMID:16571728|PMID:17317666|PMID:17576681|PMID:20597108|PMID:25661488|PMID:25741868|PMID:26122175|PMID:26193622|PMID:28492532|PMID:28741180|PMID:31130284|PMID:31589614|PMID:9536098 12005000 GALNTL6 polypeptide N-acetylgalactosaminyltransferase like 6 gene DOID:630 genetic disease ISO RGD:2301498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12005000 GALNTL6 polypeptide N-acetylgalactosaminyltransferase like 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2301498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12005028 MIA2 MIA SH3 domain ER export factor 2 gene DOID:630 genetic disease ISO RGD:1351524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12005028 MIA2 MIA SH3 domain ER export factor 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1351524 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12005089 TIMM8A translocase of inner mitochondrial membrane 8A gene DOID:0050757 deafness-dystonia-optic neuronopathy syndrome ISO RGD:1350353 D RGD:7240710 20180613 OMIM 12005089 TIMM8A translocase of inner mitochondrial membrane 8A gene DOID:0050757 deafness-dystonia-optic neuronopathy syndrome ISO RGD:1350353 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Deafness dystonia syndrome PMID:10878669|PMID:11405816|PMID:11601506|PMID:11803487|PMID:15037720|PMID:15710860|PMID:16411215|PMID:17851739|PMID:17936919|PMID:17999202|PMID:20301395|PMID:24033266|PMID:25741868|PMID:8841189 12005089 TIMM8A translocase of inner mitochondrial membrane 8A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12005089 TIMM8A translocase of inner mitochondrial membrane 8A gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1350353 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 12005089 TIMM8A translocase of inner mitochondrial membrane 8A gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1350353 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:11956200|PMID:21984432|PMID:22736418|PMID:28492532|PMID:7711734|PMID:9445504|PMID:9545398 12005089 TIMM8A translocase of inner mitochondrial membrane 8A gene DOID:12849 autistic disorder ISO RGD:1350353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12005089 TIMM8A translocase of inner mitochondrial membrane 8A gene DOID:14499 Fabry disease ISO RGD:1350353 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:10666480|PMID:12175777|PMID:28492532 12005089 TIMM8A translocase of inner mitochondrial membrane 8A gene DOID:3910 lung adenocarcinoma ISO RGD:1551300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12005089 TIMM8A translocase of inner mitochondrial membrane 8A gene DOID:543 dystonia ISO RGD:1350353 D RGD:9068941 20200609 RGD DNA:deletion:cds:108delG(human) PMID:11601506|REF_RGD_ID:13209134 12005089 TIMM8A translocase of inner mitochondrial membrane 8A gene DOID:543 dystonia susceptibility ISO RGD:1350353 D RGD:9068941 20200609 RGD DNA:mutation:exon; associated with deafness PMID:11405816|REF_RGD_ID:1600152 12005089 TIMM8A translocase of inner mitochondrial membrane 8A gene DOID:630 genetic disease ISO RGD:1350353 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 12005089 TIMM8A translocase of inner mitochondrial membrane 8A gene DOID:9006205 Animal Disease Models ISO RGD:1551300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12005089 TIMM8A translocase of inner mitochondrial membrane 8A gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1350353 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 12005103 BRF2 BRF2 RNA polymerase III transcription initiation factor subunit gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1318806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 12005103 BRF2 BRF2 RNA polymerase III transcription initiation factor subunit gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1318806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 12005103 BRF2 BRF2 RNA polymerase III transcription initiation factor subunit gene DOID:10283 prostate cancer ISO RGD:1318806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12005103 BRF2 BRF2 RNA polymerase III transcription initiation factor subunit gene DOID:607 paraplegia ISO RGD:1318806 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12005103 BRF2 BRF2 RNA polymerase III transcription initiation factor subunit gene DOID:630 genetic disease ISO RGD:1318806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12005111 HECTD1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1350415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:21681106 12005111 HECTD1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1350415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12005111 HECTD1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1350415 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12005163 TMEM63A transmembrane protein 63A gene DOID:10579 leukodystrophy ISO RGD:1605419 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:25741868|PMID:31587869 12005163 TMEM63A transmembrane protein 63A gene DOID:1227 neutropenia ISO RGD:1605419 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 12005163 TMEM63A transmembrane protein 63A gene DOID:1540 parathyroid carcinoma ISO RGD:1605419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12005163 TMEM63A transmembrane protein 63A gene DOID:630 genetic disease ISO RGD:1605419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12005163 TMEM63A transmembrane protein 63A gene DOID:9000217 Stomach Neoplasms ISO RGD:1605419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12005163 TMEM63A transmembrane protein 63A gene DOID:9000918 Disease Progression ISO RGD:1605419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12005163 TMEM63A transmembrane protein 63A gene DOID:9006466 Hypomyelinating Leukodystrophy 19 ISO RGD:1605419 D RGD:7240710 20191225 OMIM 12005163 TMEM63A transmembrane protein 63A gene DOID:9006466 Hypomyelinating Leukodystrophy 19 ISO RGD:1605419 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 19, transient infantile PMID:25741868|PMID:31587869|PMID:33785861 12005163 TMEM63A transmembrane protein 63A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12005202 FOXO1 forkhead box O1 gene DOID:0080147 lymphoblastic lymphoma ISO RGD:737156 D RGD:9068941 20221027 RGD PMID:17254969|REF_RGD_ID:155630604 12005202 FOXO1 forkhead box O1 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:620283 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:30186875|REF_RGD_ID:14401598 12005202 FOXO1 forkhead box O1 gene DOID:10126 keratoconus ISO RGD:737155 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23291589 12005202 FOXO1 forkhead box O1 gene DOID:10283 prostate cancer disease_progression ISO RGD:737155 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:lower in high versus low Gleason score tumors, also lower in tumor vs adjacent normal tissue (p<0.05 compared to at least one housekeeping gene) PMID:18336616|REF_RGD_ID:2301729 12005202 FOXO1 forkhead box O1 gene DOID:255 hemangioma ISO RGD:737156 D RGD:9068941 20221027 RGD PMID:17254969|REF_RGD_ID:155630604 12005202 FOXO1 forkhead box O1 gene DOID:4051 alveolar rhabdomyosarcoma ISO RGD:737155 D RGD:7240710 20190315 OMIM 12005202 FOXO1 forkhead box O1 gene DOID:6000 congestive heart failure ISO RGD:737155 D RGD:9068941 20200609 RGD PMID:16952980|REF_RGD_ID:1582564 12005202 FOXO1 forkhead box O1 gene DOID:630 genetic disease ISO RGD:737155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12005202 FOXO1 forkhead box O1 gene DOID:6432 pulmonary hypertension ISO RGD:737155 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27663689 12005202 FOXO1 forkhead box O1 gene DOID:684 hepatocellular carcinoma ISO RGD:737155 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:28972178|REF_RGD_ID:14401599 12005202 FOXO1 forkhead box O1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:620283 D RGD:9068941 20220520 RGD associated with Schistosomiasis Japonica; mRNA:decreased expression:liver (rat) PMID:29323718|REF_RGD_ID:38599216 12005202 FOXO1 forkhead box O1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737155 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 12005202 FOXO1 forkhead box O1 gene DOID:9002644 Premature Aging ISO RGD:737156 D RGD:9068941 20200609 RGD PMID:23673876|REF_RGD_ID:10045361 12005202 FOXO1 forkhead box O1 gene DOID:9007692 Insulin Resistance ISO RGD:620283 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue: PMID:16041833|REF_RGD_ID:1599150 12005202 FOXO1 forkhead box O1 gene DOID:9119 acute myeloid leukemia ISO RGD:737155 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12005202 FOXO1 forkhead box O1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737156 D RGD:9068941 20200609 RGD protein:altered localization:nucleus, islet cell: PMID:22417654|REF_RGD_ID:10044264 12005202 FOXO1 forkhead box O1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:737156 D RGD:9068941 20200609 RGD PMID:20736318|REF_RGD_ID:10044265 12005202 FOXO1 forkhead box O1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737156 D RGD:9068941 20200609 RGD protein:altered localization:nucleus,liver cell: PMID:15546000|REF_RGD_ID:10045358 12005209 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:0050777 Joubert syndrome ISO RGD:1313498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12005209 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:0060071 pre-malignant neoplasm ISO RGD:1313498 D RGD:9068941 20200609 RGD PMID:12021784|REF_RGD_ID:1599171 12005209 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:11372 megacolon ISO RGD:1313498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12005209 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:1612 breast cancer ISO RGD:1313498 D RGD:7240710 20180711 OMIM 12005209 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:2394 ovarian cancer ISO RGD:1313498 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 12005209 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:3070 high grade glioma ISO RGD:1313498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24880341 12005209 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:630 genetic disease ISO RGD:1313498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:27479843|PMID:28135719|PMID:28343630|PMID:28492532|PMID:29758292|PMID:30795918 12005209 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:9002777 Brain Stem Neoplasms ISO RGD:1313498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24880341 12005209 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 12005209 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:9004839 INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD ISO RGD:1313498 D RGD:7240710 20190315 OMIM 12005209 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:9004839 INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD ISO RGD:1313498 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold PMID:23907125|PMID:24262437|PMID:25741868|PMID:28343630|PMID:28492532|PMID:28852847|PMID:29752822|PMID:29758562|PMID:30216591|PMID:30388424|PMID:30795918|PMID:31916397 12005209 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 12005209 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:9008939 Breast Neoplasms ISO RGD:1313498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12005209 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:9008952 Breast Cancer, Familial ISO RGD:1313498 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:23907125|PMID:24262437|PMID:25741868|PMID:28343630|PMID:28492532|PMID:28852847|PMID:29752822|PMID:30216591|PMID:30388424 12005289 RASSF10 Ras association domain family member 10 gene DOID:1059 intellectual disability ISO RGD:2290196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12005289 RASSF10 Ras association domain family member 10 gene DOID:630 genetic disease ISO RGD:2290196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12005294 NTPCR nucleoside-triphosphatase, cancer-related gene DOID:1540 parathyroid carcinoma ISO RGD:1604264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12005294 NTPCR nucleoside-triphosphatase, cancer-related gene DOID:630 genetic disease ISO RGD:1604264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12005294 NTPCR nucleoside-triphosphatase, cancer-related gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12005303 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:0050440 familial partial lipodystrophy ISO RGD:1313678 D RGD:9068941 20220825 MouseDO OMIM:151660 | OMIM:604367 | OMIM:608600 | OMIM:613877 | OMIM:615238 12005303 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:0060762 restrictive dermopathy ISO RGD:1313677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal hypokinesia sequence due to restrictive dermopathy | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome PMID:12913070|PMID:15317753|PMID:15843403|PMID:15937076|PMID:16297189|PMID:17152860|PMID:17576681|PMID:18414213|PMID:18435794|PMID:18671782|PMID:19020898|PMID:19139791|PMID:19504603|PMID:19645629|PMID:19680556|PMID:20034068|PMID:20101687|PMID:20635340|PMID:21108632|PMID:21121943|PMID:21488301|PMID:21831885|PMID:22495976|PMID:22718200|PMID:22981120|PMID:24169522|PMID:25629449|PMID:25741868|PMID:26379196|PMID:28492532|PMID:3840649|PMID:8152880|PMID:9536098 12005303 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:0070369 restrictive dermopathy 1 ISO RGD:1313677 D RGD:7240710 20230505 OMIM 12005303 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:0070369 restrictive dermopathy 1 ISO RGD:1313677 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 1, LETHAL PMID:12913070|PMID:15317753|PMID:15843403|PMID:15937076|PMID:16297189|PMID:17152860|PMID:19020898|PMID:19139791|PMID:20034068|PMID:20635340|PMID:21108632|PMID:21121943|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:3840649|PMID:8152880 12005303 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:0081127 mandibuloacral dysplasia ISO RGD:1313677 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Mandibuloacral dysplasia 12005303 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:0081129 mandibuloacral dysplasia type B lipodystrophy ISO RGD:1313677 D RGD:7240710 20180130 OMIM 12005303 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:0081129 mandibuloacral dysplasia type B lipodystrophy ISO RGD:1313677 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy PMID:12913070|PMID:15317753|PMID:15843403|PMID:15937076|PMID:16297189|PMID:17152860|PMID:17576681|PMID:18414213|PMID:18435794|PMID:19020898|PMID:19139791|PMID:19383993|PMID:19504603|PMID:19645629|PMID:19680556|PMID:20034068|PMID:20635340|PMID:20814950|PMID:21108632|PMID:21121943|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:3840649|PMID:8152880|PMID:9536098 12005303 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1313677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12005303 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1313678 D RGD:9068941 20220825 MouseDO OMIM:181350 | OMIM:300696 | OMIM:310300 | OMIM:612998 | OMIM:612999 | OMIM:614302 12005303 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1313677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17152860 12005303 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:3911 progeria ISO RGD:1313677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23217256 12005303 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:3911 progeria ISO RGD:1313678 D RGD:9068941 20220825 MouseDO OMIM:176670 12005303 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:630 genetic disease ISO RGD:1313677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12005303 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:811 lipodystrophy ISO RGD:1313677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12913070 12005303 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:811 lipodystrophy ISO RGD:1313678 D RGD:9068941 20200609 RGD PMID:21828285|REF_RGD_ID:10043099 12005303 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:9001402 Acro-Osteolysis ISO RGD:1313677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12913070|PMID:17152860 12005303 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:9002644 Premature Aging ISO RGD:1313678 D RGD:9068941 20200609 RGD PMID:19014358|REF_RGD_ID:10043096 12005303 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:9006105 Craniomandibular Disorders ISO RGD:1313678 D RGD:9068941 20200609 RGD PMID:19014358|REF_RGD_ID:10043096 12005303 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:9006309 Mandibular Diseases ISO RGD:1313677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12913070 12005303 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1313677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17152860 12005303 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:9008856 HIV-Associated Lipodystrophy Syndrome ISO RGD:1313677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18230615 12005317 GSE1 Gse1 coiled-coil protein gene DOID:10534 stomach cancer ameliorates ISO RGD:1604378 D RGD:9068941 20220224 RGD PMID:29367342|REF_RGD_ID:151361142 12005317 GSE1 Gse1 coiled-coil protein gene DOID:10534 stomach cancer disease_progression ISO RGD:1604378 D RGD:9068941 20220224 RGD PMID:29367342|REF_RGD_ID:151361142 12005317 GSE1 Gse1 coiled-coil protein gene DOID:10534 stomach cancer exacerbates ISO RGD:1604378 D RGD:9068941 20220224 RGD PMID:29367342|REF_RGD_ID:151361142 12005317 GSE1 Gse1 coiled-coil protein gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1604378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12005317 GSE1 Gse1 coiled-coil protein gene DOID:5419 schizophrenia ISO RGD:1604378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12005317 GSE1 Gse1 coiled-coil protein gene DOID:630 genetic disease ISO RGD:1604378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12005356 COTL1 coactosin like F-actin binding protein 1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1313560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12005356 COTL1 coactosin like F-actin binding protein 1 gene DOID:5419 schizophrenia ISO RGD:1313560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12005356 COTL1 coactosin like F-actin binding protein 1 gene DOID:630 genetic disease ISO RGD:1313560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12005356 COTL1 coactosin like F-actin binding protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12005356 COTL1 coactosin like F-actin binding protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1313560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 12005363 GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12005363 GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 gene DOID:12849 autistic disorder ISO RGD:732437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12005363 GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 gene DOID:2377 multiple sclerosis ISO RGD:732437 D RGD:9068941 20200609 RGD DNA:repeat::(CA)11-16 (human) PMID:9561979|REF_RGD_ID:1358628 12005363 GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 gene DOID:3312 bipolar disorder ISO RGD:732437 D RGD:9068941 20200609 RGD PMID:11840313|REF_RGD_ID:1358391 12005363 GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 gene DOID:630 genetic disease ISO RGD:732437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:27572814|PMID:29053855 12005363 GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 gene DOID:9005494 X-linked Epilepsy 2 with or without Impaired Intellectual Development and Dysmorphic Features ISO RGD:732437 D RGD:7240710 20221130 OMIM 12005363 GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 gene DOID:9005494 X-linked Epilepsy 2 with or without Impaired Intellectual Development and Dysmorphic Features ISO RGD:732437 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features PMID:27572814|PMID:29053855 12005382 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1343412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability PMID:18252223|PMID:19377476|PMID:25741868|PMID:28492532|PMID:29118367|PMID:29651030 12005382 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1343412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 12005382 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12005382 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0060811 syndromic X-linked intellectual disability Turner type ISO RGD:1343412 D RGD:7240710 20190515 OMIM 12005382 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0060811 syndromic X-linked intellectual disability Turner type ISO RGD:1343412 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: HUWE1-related neurodevelopmental disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE | ClinVar Annotator: match by term: Intellectual disability, X-linked syndromic, Turner type PMID:16700052|PMID:18252223|PMID:19377476|PMID:25326635|PMID:25326637|PMID:25590979|PMID:25741868|PMID:25741869|PMID:25985138|PMID:27130160|PMID:27884935|PMID:28492532|PMID:29118367|PMID:29180823|PMID:29651030|PMID:30797980|PMID:6107045|PMID:7943042|PMID:7943044 12005382 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1343412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 12005382 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0080982 X-linked mental retardation-hypotonic facies syndrome-1 ISO RGD:1343412 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Carpenter-Waziri syndrome PMID:25741868 12005382 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0112037 chromosome Xp11.22 duplication syndrome ISO RGD:1343412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HUWE1-Related Disorder 12005382 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0112038 non-syndromic X-linked intellectual disability 1 ISO RGD:1343412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 PMID:26059843|PMID:28492532 12005382 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:10348 blepharophimosis ISO RGD:1343412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis PMID:25741868 12005382 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:1059 intellectual disability ISO RGD:1343412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 12005382 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:1059 intellectual disability ISO RGD:1343412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:29180823 12005382 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:12849 autistic disorder ISO RGD:1343412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12005382 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:1826 epilepsy ISO RGD:1343412 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12005382 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1343412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16700052|PMID:18414213|PMID:25644381|PMID:25741868|PMID:25741869|PMID:25985138|PMID:28492532|PMID:29180823|PMID:7708685|PMID:9153201 12005382 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12005382 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:9004603 Atkin Syndrome ISO RGD:1343412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome PMID:26059843|PMID:28492532 12005382 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:9006231 Say Meyer Syndrome ISO RGD:1343412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trigonocephaly, short stature, and retarded psychomotor development PMID:25741868|PMID:30797980 12005382 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1343412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741905|PMID:28492532 12005496 LRP1B LDL receptor related protein 1B gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1314617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 12005496 LRP1B LDL receptor related protein 1B gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1314617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:21981781|PMID:23632792 12005496 LRP1B LDL receptor related protein 1B gene DOID:10283 prostate cancer ISO RGD:1314617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12005496 LRP1B LDL receptor related protein 1B gene DOID:10534 stomach cancer ISO RGD:1314617 D RGD:9068941 20211001 RGD DNA:hypermethylation PMID:20095042|REF_RGD_ID:150429774 12005496 LRP1B LDL receptor related protein 1B gene DOID:10652 Alzheimer's disease onset ISO RGD:1314618 D RGD:9068941 20220311 RGD mRNA:increased expression:hippocampus (mouse) PMID:23150673|REF_RGD_ID:151665140 12005496 LRP1B LDL receptor related protein 1B gene DOID:1324 lung cancer ISO RGD:1314617 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 12005496 LRP1B LDL receptor related protein 1B gene DOID:1324 lung cancer severity ISO RGD:1314617 D RGD:9068941 20220224 RGD DNA:mutations: :multiple (human) PMID:33219256|REF_RGD_ID:150429789 12005496 LRP1B LDL receptor related protein 1B gene DOID:162 cancer ISO RGD:1314617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cancer 12005496 LRP1B LDL receptor related protein 1B gene DOID:1909 melanoma ISO RGD:1314617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22197931 12005496 LRP1B LDL receptor related protein 1B gene DOID:1909 melanoma ameliorates ISO RGD:1314617 D RGD:9068941 20211001 RGD DNA:mutations:multiple: (human) PMID:31164891|REF_RGD_ID:150429775 12005496 LRP1B LDL receptor related protein 1B gene DOID:219 colon cancer ISO RGD:1314617 D RGD:9068941 20211001 RGD human cells in a mouse moel PMID:28408316|REF_RGD_ID:150429777 12005496 LRP1B LDL receptor related protein 1B gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1314617 D RGD:9068941 20211001 RGD associated with lung adenocarcinoma;DNA:mutations:multiple: (human) PMID:28522810|REF_RGD_ID:150429784 12005496 LRP1B LDL receptor related protein 1B gene DOID:3121 gallbladder cancer ameliorates ISO RGD:1314617 D RGD:9068941 20211001 RGD DNA:mutations:multiple: (human) PMID:32898339|REF_RGD_ID:150429787 12005496 LRP1B LDL receptor related protein 1B gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1314617 D RGD:9068941 20211001 RGD DNA:mutations:multiple: (human) PMID:31164891|REF_RGD_ID:150429775 12005496 LRP1B LDL receptor related protein 1B gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1314617 D RGD:9068941 20211001 RGD DNA:mutations:multiple: (human) PMID:18948947|REF_RGD_ID:11064706 12005496 LRP1B LDL receptor related protein 1B gene DOID:4450 renal cell carcinoma ISO RGD:1314617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 12005496 LRP1B LDL receptor related protein 1B gene DOID:4928 intrahepatic cholangiocarcinoma exacerbates ISO RGD:1314617 D RGD:9068941 20211001 RGD DNA:mutations:multiple: (human) PMID:33014052|REF_RGD_ID:150429786 12005496 LRP1B LDL receptor related protein 1B gene DOID:5409 lung small cell carcinoma ISO RGD:1314617 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 12005496 LRP1B LDL receptor related protein 1B gene DOID:630 genetic disease ISO RGD:1314617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12005496 LRP1B LDL receptor related protein 1B gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1314617 D RGD:9068941 20211001 RGD DNA:mutations:multiple: (human) PMID:33391418|REF_RGD_ID:150429785 12005496 LRP1B LDL receptor related protein 1B gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1314617 D RGD:9068941 20211001 RGD protein:increased expression:liver (human) PMID:33324588|REF_RGD_ID:150429776 12005496 LRP1B LDL receptor related protein 1B gene DOID:9002189 High Myopia ISO RGD:1314617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12005496 LRP1B LDL receptor related protein 1B gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 12005496 LRP1B LDL receptor related protein 1B gene DOID:9256 colorectal cancer exacerbates ISO RGD:1314617 D RGD:9068941 20211001 RGD DNA:mutations, haplotype:multiple: (human) PMID:33836681|REF_RGD_ID:150429788 12005496 LRP1B LDL receptor related protein 1B gene DOID:9256 colorectal cancer exacerbates ISO RGD:1314617 D RGD:9068941 20211001 RGD DNA:mutations, hpalotype:multiple (human) PMID:31693169|REF_RGD_ID:150429790 12005592 IAPP islet amyloid polypeptide gene DOID:10808 gastric ulcer ISO RGD:737044 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9286623 12005592 IAPP islet amyloid polypeptide gene DOID:630 genetic disease ISO RGD:737044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12005592 IAPP islet amyloid polypeptide gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12005592 IAPP islet amyloid polypeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:737044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366|PMID:23793354 12005592 IAPP islet amyloid polypeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:737044 D RGD:9068941 20200609 RGD PMID:18641056|PMID:19100955|REF_RGD_ID:2311446|REF_RGD_ID:2313359 12005592 IAPP islet amyloid polypeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:737044 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic islet (human) PMID:2441214|REF_RGD_ID:9686128 12005592 IAPP islet amyloid polypeptide gene DOID:9744 type 1 diabetes mellitus ISO RGD:737044 D RGD:9068941 20200609 RGD PMID:19190104|REF_RGD_ID:2313356 12005592 IAPP islet amyloid polypeptide gene DOID:9744 type 1 diabetes mellitus ISO RGD:737044 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:19033417|REF_RGD_ID:2313357 12005599 THBS4 thrombospondin 4 gene DOID:10487 Hirschsprung's disease ISO RGD:735475 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 12005599 THBS4 thrombospondin 4 gene DOID:630 genetic disease ISO RGD:735475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12005599 THBS4 thrombospondin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12005625 SRD5A1 steroid 5 alpha-reductase 1 gene DOID:0080600 COVID-19 ISO RGD:736446 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12005625 SRD5A1 steroid 5 alpha-reductase 1 gene DOID:10283 prostate cancer ISO RGD:736446 D RGD:9068941 20200609 RGD PMID:16818707|REF_RGD_ID:2302523 12005625 SRD5A1 steroid 5 alpha-reductase 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:736446 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:17720776|REF_RGD_ID:2302521 12005625 SRD5A1 steroid 5 alpha-reductase 1 gene DOID:11132 prostatic hypertrophy severity ISO RGD:736446 D RGD:9068941 20200609 RGD DNA:SNPs:cds PMID:15136785|REF_RGD_ID:2302559 12005625 SRD5A1 steroid 5 alpha-reductase 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:736446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543|PMID:22381227 12005625 SRD5A1 steroid 5 alpha-reductase 1 gene DOID:12700 hyperprolactinemia ISO RGD:3757 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate (rat) PMID:18379994|REF_RGD_ID:4891877 12005625 SRD5A1 steroid 5 alpha-reductase 1 gene DOID:1459 hypothyroidism ISO RGD:3757 D RGD:9068941 20200609 RGD mRNA:decreased expression:epididymus (rat) PMID:20303481|REF_RGD_ID:4891505 12005625 SRD5A1 steroid 5 alpha-reductase 1 gene DOID:289 endometriosis ISO RGD:736446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21232532|PMID:23183084 12005625 SRD5A1 steroid 5 alpha-reductase 1 gene DOID:3459 breast carcinoma ISO RGD:736446 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:15212687|REF_RGD_ID:2302558 12005625 SRD5A1 steroid 5 alpha-reductase 1 gene DOID:630 genetic disease ISO RGD:736446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12005625 SRD5A1 steroid 5 alpha-reductase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12005625 SRD5A1 steroid 5 alpha-reductase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:11341 D RGD:9068941 20200609 RGD PMID:17707058|REF_RGD_ID:2302522 12005625 SRD5A1 steroid 5 alpha-reductase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18500220|PMID:20564326 12005625 SRD5A1 steroid 5 alpha-reductase 1 gene DOID:9003936 Cardiomegaly ISO RGD:736446 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle (human) PMID:12374776|REF_RGD_ID:4891966 12005625 SRD5A1 steroid 5 alpha-reductase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3757 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland (rat) PMID:17884440|REF_RGD_ID:4891894 12005625 SRD5A1 steroid 5 alpha-reductase 1 gene DOID:9970 obesity ISO RGD:3757 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:20098742|REF_RGD_ID:4891511 12005625 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:10283 prostate cancer ISO RGD:3757 D RGD:9068941 20200609 RGD PMID:16818707|REF_RGD_ID:2302523 12005637 HEMGN hemogen gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1351335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 12005637 HEMGN hemogen gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1351335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 12005637 HEMGN hemogen gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1351335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 12005637 HEMGN hemogen gene DOID:1059 intellectual disability ISO RGD:1351335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12005637 HEMGN hemogen gene DOID:12712 nephronophthisis ISO RGD:1351335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 12005637 HEMGN hemogen gene DOID:14004 thoracic aortic aneurysm ISO RGD:1351335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 12005637 HEMGN hemogen gene DOID:630 genetic disease ISO RGD:1351335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12005637 HEMGN hemogen gene DOID:9001793 Generalized Epilepsy ISO RGD:1351335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 12005649 LOC100981889 non-secretory ribonuclease gene DOID:0080600 COVID-19 ISO RGD:1349318 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12005649 LOC100981889 non-secretory ribonuclease gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1349318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 12005649 LOC100981889 non-secretory ribonuclease gene DOID:630 genetic disease ISO RGD:1349318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12005649 LOC100981889 non-secretory ribonuclease gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1349318 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12005655 NRN1 neuritin 1 gene DOID:0111477 combined oxidative phosphorylation deficiency 14 ISO RGD:1351872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 PMID:22833457|PMID:28492532 12005655 NRN1 neuritin 1 gene DOID:630 genetic disease ISO RGD:1351872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:0050700 cardiomyopathy ISO RGD:1318944 D RGD:9068941 20200609 RGD PMID:22976834|REF_RGD_ID:10402865 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:0070000 3-methylglutaconic aciduria type 8 ISO RGD:1318943 D RGD:7240710 20190315 OMIM 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:0070000 3-methylglutaconic aciduria type 8 ISO RGD:1318943 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 8 PMID:17576681|PMID:25531304|PMID:25741868|PMID:27208207|PMID:27696117|PMID:28492532|PMID:9536098 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1318943 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:0080855 Parkinsonism ISO RGD:1318943 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26558463 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:10283 prostate cancer ISO RGD:1318943 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate (human) PMID:17207090|REF_RGD_ID:5688749 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:10534 stomach cancer ISO RGD:1318943 D RGD:9068941 20200609 RGD protein:increased expression:gastric mucosa (human) PMID:12887511|REF_RGD_ID:5688748 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1318943 D RGD:9068941 20200609 RGD protein:increased activity:frontal cortex (human) PMID:21163861|REF_RGD_ID:5688722 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:11088 asphyxia neonatorum treatment ISO RGD:1308906 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:20704803|REF_RGD_ID:10402931 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:11383 cryptorchidism ISO RGD:1308906 D RGD:9068941 20200609 RGD PMID:16563141|REF_RGD_ID:10402928 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:12858 Huntington's disease ISO RGD:1318944 D RGD:9068941 20200609 RGD protein:increased expression:striatal neuron (mouse) PMID:18662332|REF_RGD_ID:5688723 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:1380 endometrial cancer ISO RGD:1318943 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium (human) PMID:19424634|REF_RGD_ID:5688747 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:14330 Parkinson's disease ISO RGD:1318943 D RGD:9068941 20200609 RGD DNA:missense mutation, transversion:cds, intron:p.G26E, g.IVS5+29T>A (human) PMID:21338583|REF_RGD_ID:5688714 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:14330 Parkinson's disease ISO RGD:1318943 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P143A (human) PMID:21701785|REF_RGD_ID:5688395 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:14330 Parkinson's disease ISO RGD:1318943 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R404W (human) PMID:18401856|REF_RGD_ID:5688393 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:14330 Parkinson's disease ISO RGD:1318943 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.A141S, p.G399S (human) PMID:15961413|REF_RGD_ID:5688381 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:14330 Parkinson's disease ISO RGD:1318944 D RGD:9068941 20200609 RGD PMID:15509788|REF_RGD_ID:5688367 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:14330 Parkinson's disease ISO RGD:1318944 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.S276C (mouse) PMID:14534547|REF_RGD_ID:5688392 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:14330 Parkinson's disease no_association ISO RGD:1318943 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.A141S, p.G399S (human) PMID:18364387|REF_RGD_ID:5688394 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:1824 status epilepticus ISO RGD:1308906 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus CA1, neuron, cytoplasm (rat) PMID:21132459|REF_RGD_ID:5688370 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:224 transient cerebral ischemia ISO RGD:1318943 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15306124 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:224 transient cerebral ischemia treatment ISO RGD:1308906 D RGD:9068941 20200609 RGD PMID:19462455|REF_RGD_ID:10402932 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:231 motor neuron disease ISO RGD:1318944 D RGD:9068941 20200609 RGD PMID:22976834|REF_RGD_ID:10402865 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:231 motor neuron disease treatment ISO RGD:1318943 D RGD:9068941 20200609 RGD PMID:22976834|REF_RGD_ID:10402865 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:2394 ovarian cancer ISO RGD:1318943 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary (human) PMID:18241672|REF_RGD_ID:5688746 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:3007 breast ductal carcinoma ISO RGD:1318943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:1308906 D RGD:9068941 20200609 RGD protein:increased expression:brain, cytosol (rat) PMID:16978742|REF_RGD_ID:2314385 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:1318944 D RGD:9068941 20200609 RGD protein:increased expression:brain, cytosol (mouse) PMID:15306124|REF_RGD_ID:5688372 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:543 dystonia ISO RGD:1318943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:630 genetic disease ISO RGD:1318943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1318943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:9002644 Premature Aging ISO RGD:1318944 D RGD:9068941 20200609 RGD PMID:22976834|REF_RGD_ID:10402865 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:9002720 Splenomegaly ISO RGD:1318944 D RGD:9068941 20200609 RGD PMID:22976834|REF_RGD_ID:10402865 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:9002859 Parkinson's Disease 13 ISO RGD:1318943 D RGD:7240710 20180130 OMIM 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:9002859 Parkinson's Disease 13 ISO RGD:1318943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease 13, autosomal dominant, susceptibility to PMID:15961413|PMID:18364387|PMID:18401856|PMID:18790661|PMID:19118185|PMID:21163861|PMID:21338583|PMID:21701785|PMID:25422467|PMID:25741868|PMID:28492532 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:9004484 Sepsis treatment ISO RGD:1308906 D RGD:9068941 20200609 RGD PMID:23557966|REF_RGD_ID:10402934 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:9007456 Female Infertility ISO RGD:1318944 D RGD:9068941 20200609 RGD PMID:22976834|REF_RGD_ID:10402865 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1318944 D RGD:9068941 20200609 RGD protein:increased expression:myocardium, cytosol (mouse) PMID:15611365|REF_RGD_ID:5688376 12005662 HTRA2 HtrA serine peptidase 2 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1318943 D RGD:9068941 20220609 RGD protein:decreased expression:colorectal mucosa (human) PMID:32486357|REF_RGD_ID:152977762 12005677 GGN gametogenetin gene DOID:630 genetic disease ISO RGD:1315571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12005677 GGN gametogenetin gene DOID:9002042 Spermatogenic Failure 69 ISO RGD:1315571 D RGD:7240710 20220427 OMIM 12005677 GGN gametogenetin gene DOID:9002042 Spermatogenic Failure 69 ISO RGD:1315571 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 69 PMID:31985809|PMID:33108537 12005686 PALS2 protein associated with LIN7 2, MAGUK p55 family member gene DOID:0080600 COVID-19 ISO RGD:1323497 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12005686 PALS2 protein associated with LIN7 2, MAGUK p55 family member gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12005714 FREM2 FRAS1 related extracellular matrix 2 gene DOID:0080205 CAKUT ISO RGD:1347992 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:24700879|PMID:25741868|PMID:28492532|PMID:30143558 12005714 FREM2 FRAS1 related extracellular matrix 2 gene DOID:0090001 Fraser syndrome ISO RGD:1347992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cryptophthalmos with other malformations PMID:25741868 12005714 FREM2 FRAS1 related extracellular matrix 2 gene DOID:0111405 Fraser syndrome 1 ISO RGD:1347992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fraser syndrome 1 PMID:17576681|PMID:25741868|PMID:26275891|PMID:28492532|PMID:9536098 12005714 FREM2 FRAS1 related extracellular matrix 2 gene DOID:0111407 Fraser syndrome 2 ISO RGD:1347992 D RGD:7240710 20190315 OMIM 12005714 FREM2 FRAS1 related extracellular matrix 2 gene DOID:0111407 Fraser syndrome 2 ISO RGD:1347992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fraser syndrome 2 PMID:15838507|PMID:18203166|PMID:18671281|PMID:24115501|PMID:24700879|PMID:25741868|PMID:26275891|PMID:28492532|PMID:29618029|PMID:29688405|PMID:30143558|PMID:30773290|PMID:30802441|PMID:30838450 12005714 FREM2 FRAS1 related extracellular matrix 2 gene DOID:0111716 cryptophthalmia ISO RGD:1347992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryptophthalmia PMID:25741868 12005714 FREM2 FRAS1 related extracellular matrix 2 gene DOID:0111717 isolated cryptophthalmia ISO RGD:1347992 D RGD:7240710 20200325 OMIM 12005714 FREM2 FRAS1 related extracellular matrix 2 gene DOID:0111717 isolated cryptophthalmia ISO RGD:1347992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated cryptophthalmia PMID:17576681|PMID:24115501|PMID:25741868|PMID:26275891|PMID:28492532|PMID:29618029|PMID:29688405|PMID:30143558|PMID:30802441|PMID:30838450|PMID:9536098 12005714 FREM2 FRAS1 related extracellular matrix 2 gene DOID:10283 prostate cancer ISO RGD:1347992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12005714 FREM2 FRAS1 related extracellular matrix 2 gene DOID:10907 microcephaly ISO RGD:1347992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12005714 FREM2 FRAS1 related extracellular matrix 2 gene DOID:1923 disorder of sexual development ISO RGD:1347992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ambiguous genitalia PMID:25741868 12005714 FREM2 FRAS1 related extracellular matrix 2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1347992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia PMID:25741868|PMID:28492532|PMID:30143558 12005714 FREM2 FRAS1 related extracellular matrix 2 gene DOID:5419 schizophrenia ISO RGD:1347992 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12005714 FREM2 FRAS1 related extracellular matrix 2 gene DOID:630 genetic disease ISO RGD:1347992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12005714 FREM2 FRAS1 related extracellular matrix 2 gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:1347992 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:28492532 12005714 FREM2 FRAS1 related extracellular matrix 2 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1347992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 12005742 FABP6 fatty acid binding protein 6 gene DOID:630 genetic disease ISO RGD:737077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12005758 DLK1 delta like non-canonical Notch ligand 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:732542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18575777 12005758 DLK1 delta like non-canonical Notch ligand 1 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:732542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 12005758 DLK1 delta like non-canonical Notch ligand 1 gene DOID:13608 biliary atresia ISO RGD:732542 D RGD:9068941 20200609 RGD PMID:14743499|REF_RGD_ID:1625622 12005758 DLK1 delta like non-canonical Notch ligand 1 gene DOID:3070 high grade glioma ISO RGD:732542 D RGD:9068941 20200609 RGD PMID:16288219|REF_RGD_ID:1625600 12005758 DLK1 delta like non-canonical Notch ligand 1 gene DOID:630 genetic disease ISO RGD:732542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12005758 DLK1 delta like non-canonical Notch ligand 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732543 D RGD:9068941 20210423 RGD mRNA:increased expression:liver (mouse) PMID:26569409|REF_RGD_ID:11344640 12005758 DLK1 delta like non-canonical Notch ligand 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:732542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27776119 12005758 DLK1 delta like non-canonical Notch ligand 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:732543 D RGD:9068941 20211119 RGD PMID:24676147|REF_RGD_ID:150520045 12005758 DLK1 delta like non-canonical Notch ligand 1 gene DOID:9007070 Silver-Russell Syndrome 1 ISO RGD:732542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 1 12005768 ENOX2 ecto-NOX disulfide-thiol exchanger 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12005768 ENOX2 ecto-NOX disulfide-thiol exchanger 2 gene DOID:12849 autistic disorder ISO RGD:1345108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12005768 ENOX2 ecto-NOX disulfide-thiol exchanger 2 gene DOID:14566 disease of cellular proliferation ISO RGD:1345108 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20518072 12005768 ENOX2 ecto-NOX disulfide-thiol exchanger 2 gene DOID:1790 malignant mesothelioma ISO RGD:1345108 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26807072 12005768 ENOX2 ecto-NOX disulfide-thiol exchanger 2 gene DOID:630 genetic disease ISO RGD:1345108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12005793 TMEM18 transmembrane protein 18 gene DOID:630 genetic disease ISO RGD:1344776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12005793 TMEM18 transmembrane protein 18 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 12005793 TMEM18 transmembrane protein 18 gene DOID:9970 obesity ISO RGD:1344776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19079261 12005821 ZNF836 zinc finger protein 836 gene DOID:630 genetic disease ISO RGD:2293896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12005833 NOA1 nitric oxide associated 1 gene DOID:630 genetic disease ISO RGD:1354431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12005844 RIN1 Ras and Rab interactor 1 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1348032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 12005844 RIN1 Ras and Rab interactor 1 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:1348032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:22219654|PMID:28492532 12005844 RIN1 Ras and Rab interactor 1 gene DOID:1059 intellectual disability ISO RGD:1348032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12005844 RIN1 Ras and Rab interactor 1 gene DOID:1909 melanoma ISO RGD:1348032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12005844 RIN1 Ras and Rab interactor 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1348032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12005844 RIN1 Ras and Rab interactor 1 gene DOID:2746 glycogen storage disease V ISO RGD:1348032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12005844 RIN1 Ras and Rab interactor 1 gene DOID:630 genetic disease ISO RGD:1348032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12005844 RIN1 Ras and Rab interactor 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1348032 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12005844 RIN1 Ras and Rab interactor 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1348032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12005867 LOC100969771 ral-GDS-related protein gene DOID:0081135 agammaglobulinemia 2 ISO RGD:1606411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 12005867 LOC100969771 ral-GDS-related protein gene DOID:1826 epilepsy ISO RGD:1606411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12005867 LOC100969771 ral-GDS-related protein gene DOID:5419 schizophrenia ISO RGD:1606411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12005867 LOC100969771 ral-GDS-related protein gene DOID:630 genetic disease ISO RGD:1606411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12005884 SHPK sedoheptulokinase gene DOID:1064 cystinosis ISO RGD:1317524 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cystinosin, defect of PMID:10625078|PMID:10673275|PMID:12110740|PMID:15365816|PMID:18186520|PMID:19863563|PMID:27734949|PMID:9537412|PMID:9792862 12005884 SHPK sedoheptulokinase gene DOID:3613 Canavan disease ISO RGD:1317524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 12005884 SHPK sedoheptulokinase gene DOID:630 genetic disease ISO RGD:1317524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10909858|PMID:21546516|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 12005884 SHPK sedoheptulokinase gene DOID:9001808 SEDOHEPTULOKINASE DEFICIENCY ISO RGD:1317524 D RGD:7240710 20190315 OMIM 12005884 SHPK sedoheptulokinase gene DOID:9001808 SEDOHEPTULOKINASE DEFICIENCY ISO RGD:1317524 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated sedoheptulokinase deficiency PMID:25647543|PMID:25741868|PMID:28492532 12005884 SHPK sedoheptulokinase gene DOID:9002714 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type ISO RGD:1317524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE PMID:10625078|PMID:10673275|PMID:10909858|PMID:12110740|PMID:15365816|PMID:18186520|PMID:19863563|PMID:21546516|PMID:27102039|PMID:27734949|PMID:28492532|PMID:7668285|PMID:9537412|PMID:9792862 12005884 SHPK sedoheptulokinase gene DOID:9004409 Abderhalden-Kaufmann-Lignac Syndrome ISO RGD:1317524 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome PMID:10625078|PMID:10673275|PMID:12110740|PMID:15365816|PMID:18186520|PMID:19863563|PMID:27734949|PMID:9537412|PMID:9792862 12005884 SHPK sedoheptulokinase gene DOID:9007952 Cystinosis, Ocular Nonnephropathic ISO RGD:1317524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic PMID:10625078|PMID:10673275|PMID:10909858|PMID:12110740|PMID:15365816|PMID:18186520|PMID:19863563|PMID:21546516|PMID:27102039|PMID:27734949|PMID:28492532|PMID:7668285|PMID:9537412|PMID:9792862 12005895 TBX4 T-box transcription factor 4 gene DOID:0050777 Joubert syndrome ISO RGD:1319185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12005895 TBX4 T-box transcription factor 4 gene DOID:0111382 ischiocoxopodopatellar syndrome ISO RGD:1319185 D RGD:7240710 20180130 OMIM 12005895 TBX4 T-box transcription factor 4 gene DOID:0111382 ischiocoxopodopatellar syndrome ISO RGD:1319185 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Coxopodopatellar syndrome PMID:11303519|PMID:15106123|PMID:23592887|PMID:24033266|PMID:25741868|PMID:27587546|PMID:28492532|PMID:29120062|PMID:29631995|PMID:29650961|PMID:30029678|PMID:30578397|PMID:31151956|PMID:31761294|PMID:31965066|PMID:32581362|PMID:32860008 12005895 TBX4 T-box transcription factor 4 gene DOID:11111 hydronephrosis ISO RGD:1319185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydronephrosis PMID:25741868|PMID:31965066 12005895 TBX4 T-box transcription factor 4 gene DOID:11372 megacolon ISO RGD:1319185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12005895 TBX4 T-box transcription factor 4 gene DOID:381 arthropathy susceptibility ISO RGD:1319185 D RGD:9068941 20200609 RGD Small Patella Syndrome, OMIM:147891;DNA:missense mutation, nonsense mutation:exon, exon:p.G248V, p.Q62X PMID:15106123|REF_RGD_ID:1601422 12005895 TBX4 T-box transcription factor 4 gene DOID:630 genetic disease ISO RGD:1319185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12005895 TBX4 T-box transcription factor 4 gene DOID:9000096 Lung Agenesis ISO RGD:1319185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypoplasia 12005895 TBX4 T-box transcription factor 4 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1319185 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease PMID:15106123|PMID:16199547|PMID:25741868|PMID:28492532|PMID:29120062|PMID:29631995|PMID:29650961|PMID:30029678|PMID:30578397|PMID:31151956|PMID:31727138|PMID:31761294|PMID:31965066|PMID:32079640|PMID:32581362|PMID:32860008|PMID:33066286 12005895 TBX4 T-box transcription factor 4 gene DOID:9005155 Amelia, Autosomal Recessive ISO RGD:1319185 D RGD:7240710 20200226 OMIM 12005895 TBX4 T-box transcription factor 4 gene DOID:9005155 Amelia, Autosomal Recessive ISO RGD:1319185 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive amelia PMID:24033266|PMID:25741868|PMID:28492532|PMID:31761294|PMID:31965066 12005895 TBX4 T-box transcription factor 4 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1319185 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:15106123|PMID:16199547|PMID:17576681|PMID:23592887|PMID:25741868|PMID:27587546|PMID:28492532|PMID:29120062|PMID:29631995|PMID:29650961|PMID:30029678|PMID:30578397|PMID:31151956|PMID:31727138|PMID:31761294|PMID:31965066|PMID:32079640|PMID:32348326|PMID:32581362|PMID:32860008|PMID:33066286|PMID:33971972|PMID:34557690|PMID:9536098 12005912 RIMS3 regulating synaptic membrane exocytosis 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1347880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12005912 RIMS3 regulating synaptic membrane exocytosis 3 gene DOID:630 genetic disease ISO RGD:1347880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12005928 IGSF22 immunoglobulin superfamily member 22 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1601807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 12005928 IGSF22 immunoglobulin superfamily member 22 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1601807 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 12005928 IGSF22 immunoglobulin superfamily member 22 gene DOID:1059 intellectual disability ISO RGD:1601807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12005928 IGSF22 immunoglobulin superfamily member 22 gene DOID:630 genetic disease ISO RGD:1601807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12005953 CREB5 cAMP responsive element binding protein 5 gene DOID:0060224 atrial fibrillation ISO RGD:1606026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12005953 CREB5 cAMP responsive element binding protein 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12005953 CREB5 cAMP responsive element binding protein 5 gene DOID:630 genetic disease ISO RGD:1606026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12005953 CREB5 cAMP responsive element binding protein 5 gene DOID:9006608 Lung Carcinoid Tumors severity ISO RGD:1606026 D RGD:9068941 20220303 RGD mRNA:decreased expression:lung (human) PMID:25105010|REF_RGD_ID:151660336 12005953 CREB5 cAMP responsive element binding protein 5 gene DOID:9007479 Habitual Abortions ISO RGD:1606026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30100398 12005984 ZNF445 zinc finger protein 445 gene DOID:630 genetic disease ISO RGD:1349162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006008 SAV1 salvador family WW domain containing protein 1 gene DOID:5353 colonic disease ISO RGD:1316339 D RGD:9068941 20220825 MouseDO 12006008 SAV1 salvador family WW domain containing protein 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12006008 SAV1 salvador family WW domain containing protein 1 gene DOID:630 genetic disease ISO RGD:1316338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006008 SAV1 salvador family WW domain containing protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1316339 D RGD:9068941 20220825 MouseDO OMIM:114550 12006017 TSR2 TSR2 ribosome maturation factor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12006017 TSR2 TSR2 ribosome maturation factor gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1602842 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 12006017 TSR2 TSR2 ribosome maturation factor gene DOID:0111824 Aarskog syndrome ISO RGD:1602842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aarskog syndrome PMID:25741868|PMID:28492532 12006017 TSR2 TSR2 ribosome maturation factor gene DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ISO RGD:1602842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis PMID:11424144|PMID:24942156 12006017 TSR2 TSR2 ribosome maturation factor gene DOID:0111897 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis ISO RGD:1602842 D RGD:7240710 20180130 OMIM 12006017 TSR2 TSR2 ribosome maturation factor gene DOID:0111897 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis ISO RGD:1602842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis PMID:11424144|PMID:24942156|PMID:25741868|PMID:28492532 12006017 TSR2 TSR2 ribosome maturation factor gene DOID:12849 autistic disorder ISO RGD:1602842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12006017 TSR2 TSR2 ribosome maturation factor gene DOID:630 genetic disease ISO RGD:1602842 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 12006026 SNAPC3 small nuclear RNA activating complex polypeptide 3 gene DOID:630 genetic disease ISO RGD:1313043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006048 LOC100980196 olfactory receptor 6N1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1347518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12006048 LOC100980196 olfactory receptor 6N1 gene DOID:1540 parathyroid carcinoma ISO RGD:1347518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12006048 LOC100980196 olfactory receptor 6N1 gene DOID:630 genetic disease ISO RGD:1347518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006048 LOC100980196 olfactory receptor 6N1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12006057 MPZL3 myelin protein zero like 3 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1601712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12006057 MPZL3 myelin protein zero like 3 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1601712 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12006057 MPZL3 myelin protein zero like 3 gene DOID:0080690 RASopathy ISO RGD:1601712 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12006057 MPZL3 myelin protein zero like 3 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1601712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12006057 MPZL3 myelin protein zero like 3 gene DOID:0110651 long QT syndrome 10 ISO RGD:1601712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12006057 MPZL3 myelin protein zero like 3 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1601712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12006057 MPZL3 myelin protein zero like 3 gene DOID:0111971 immunodeficiency 18 ISO RGD:1601712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12006057 MPZL3 myelin protein zero like 3 gene DOID:0111972 immunodeficiency 19 ISO RGD:1601712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12006057 MPZL3 myelin protein zero like 3 gene DOID:0111973 immunodeficiency 17 ISO RGD:1601712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12006057 MPZL3 myelin protein zero like 3 gene DOID:1059 intellectual disability ISO RGD:1601712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12006057 MPZL3 myelin protein zero like 3 gene DOID:1324 lung cancer ISO RGD:1601712 D RGD:9068941 20220721 RGD DNA:SNP:UTR3:rs11216826 (human) PMID:29193083|REF_RGD_ID:153297750 12006057 MPZL3 myelin protein zero like 3 gene DOID:630 genetic disease ISO RGD:1601712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006057 MPZL3 myelin protein zero like 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1601712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12006057 MPZL3 myelin protein zero like 3 gene DOID:9007661 Dwarfism ISO RGD:1601712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12006069 STAB1 stabilin 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1321166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 12006069 STAB1 stabilin 1 gene DOID:630 genetic disease ISO RGD:1321166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006069 STAB1 stabilin 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1321166 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12006153 AGPAT4 1-acylglycerol-3-phosphate O-acyltransferase 4 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1354001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 12006153 AGPAT4 1-acylglycerol-3-phosphate O-acyltransferase 4 gene DOID:630 genetic disease ISO RGD:1354001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006176 AKR7A3 aldo-keto reductase family 7 member A3 gene DOID:0060041 autism spectrum disorder ISO RGD:733693 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12006176 AKR7A3 aldo-keto reductase family 7 member A3 gene DOID:0060369 Parkinson's disease 6 ISO RGD:733693 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12006176 AKR7A3 aldo-keto reductase family 7 member A3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:733693 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12006176 AKR7A3 aldo-keto reductase family 7 member A3 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:733693 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12006176 AKR7A3 aldo-keto reductase family 7 member A3 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:733693 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12006176 AKR7A3 aldo-keto reductase family 7 member A3 gene DOID:630 genetic disease ISO RGD:733693 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006176 AKR7A3 aldo-keto reductase family 7 member A3 gene DOID:9005369 Hepatomegaly ISO RGD:733693 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12006176 AKR7A3 aldo-keto reductase family 7 member A3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:733693 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12006189 GPRASP1 G protein-coupled receptor associated sorting protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12006189 GPRASP1 G protein-coupled receptor associated sorting protein 1 gene DOID:1059 intellectual disability ISO RGD:1349786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12006189 GPRASP1 G protein-coupled receptor associated sorting protein 1 gene DOID:12849 autistic disorder ISO RGD:1349786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12006189 GPRASP1 G protein-coupled receptor associated sorting protein 1 gene DOID:630 genetic disease ISO RGD:1349786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006206 OTUD5 OTU deubiquitinase 5 gene DOID:0060641 endocrine-cerebro-osteodysplasia syndrome ISO RGD:1604609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysplastic corpus callosum PMID:25741868 12006206 OTUD5 OTU deubiquitinase 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12006206 OTUD5 OTU deubiquitinase 5 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1604609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12006206 OTUD5 OTU deubiquitinase 5 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1604609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12006206 OTUD5 OTU deubiquitinase 5 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1604609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 PMID:28492532 12006206 OTUD5 OTU deubiquitinase 5 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1604609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12006206 OTUD5 OTU deubiquitinase 5 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1604609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12006206 OTUD5 OTU deubiquitinase 5 gene DOID:12849 autistic disorder ISO RGD:1604609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12006206 OTUD5 OTU deubiquitinase 5 gene DOID:3070 high grade glioma ISO RGD:1604609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12006206 OTUD5 OTU deubiquitinase 5 gene DOID:630 genetic disease ISO RGD:1604609 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:33523931 12006206 OTUD5 OTU deubiquitinase 5 gene DOID:9009180 MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED ISO RGD:1604609 D RGD:7240710 20210317 OMIM 12006206 OTUD5 OTU deubiquitinase 5 gene DOID:9009180 MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED ISO RGD:1604609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-neurodevelopmental syndrome, X-linked PMID:25741868|PMID:33131077|PMID:33523931 12006233 BAK1 BCL2 antagonist/killer 1 gene DOID:0050553 JMP syndrome ISO RGD:1353034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12006233 BAK1 BCL2 antagonist/killer 1 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1353034 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 12006233 BAK1 BCL2 antagonist/killer 1 gene DOID:10652 Alzheimer's disease ISO RGD:1353034 D RGD:9068941 20200609 RGD protein:increased expression:temporal cortex, membrane PMID:9507158|REF_RGD_ID:10053642 12006233 BAK1 BCL2 antagonist/killer 1 gene DOID:127 leiomyoma ISO RGD:1353034 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell;protein:decreased expression:myometrium PMID:16962107|REF_RGD_ID:1643479 12006233 BAK1 BCL2 antagonist/killer 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1353034 D RGD:9068941 20200609 RGD DNA:mutation:exon:c.342C>T(human) PMID:19898928|REF_RGD_ID:14394817 12006233 BAK1 BCL2 antagonist/killer 1 gene DOID:2893 cervix carcinoma ISO RGD:1353034 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:multiple (human) PMID:12771926|REF_RGD_ID:2315701 12006233 BAK1 BCL2 antagonist/killer 1 gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:1552456 D RGD:9068941 20200609 RGD PMID:20890041|REF_RGD_ID:13506803 12006233 BAK1 BCL2 antagonist/killer 1 gene DOID:3669 intermittent claudication ISO RGD:621635 D RGD:9068941 20200609 RGD PMID:23658678|REF_RGD_ID:9586024 12006233 BAK1 BCL2 antagonist/killer 1 gene DOID:4450 renal cell carcinoma severity ISO RGD:1353034 D RGD:9068941 20200609 RGD PMID:9894249|REF_RGD_ID:2315703 12006233 BAK1 BCL2 antagonist/killer 1 gene DOID:5844 myocardial infarction ISO RGD:1353034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29122578 12006233 BAK1 BCL2 antagonist/killer 1 gene DOID:630 genetic disease ISO RGD:1353034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006233 BAK1 BCL2 antagonist/killer 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621635 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11232245|REF_RGD_ID:2315709 12006233 BAK1 BCL2 antagonist/killer 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1353034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 12006233 BAK1 BCL2 antagonist/killer 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1353034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18349538 12006233 BAK1 BCL2 antagonist/killer 1 gene DOID:9002955 Nerve Degeneration ISO RGD:1353034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19740541 12006233 BAK1 BCL2 antagonist/killer 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:621635 D RGD:9068941 20200609 RGD PMID:18993028|REF_RGD_ID:2316133 12006233 BAK1 BCL2 antagonist/killer 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1552456 D RGD:9068941 20200609 RGD PMID:19222350|REF_RGD_ID:2315700 12006243 PCBP2 poly(rC) binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12006261 NECAB1 N-terminal EF-hand calcium binding protein 1 gene DOID:630 genetic disease ISO RGD:1342968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006278 ASB8 ankyrin repeat and SOCS box containing 8 gene DOID:630 genetic disease ISO RGD:1319481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006288 CORO1B coronin 1B gene DOID:1059 intellectual disability ISO RGD:736068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12006288 CORO1B coronin 1B gene DOID:630 genetic disease ISO RGD:736068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006288 CORO1B coronin 1B gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:736068 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12006288 CORO1B coronin 1B gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:736068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12006303 SRD5A3 steroid 5 alpha-reductase 3 gene DOID:0050795 cone dystrophy ISO RGD:1606233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25326635|PMID:25741868|PMID:27480077|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362 12006303 SRD5A3 steroid 5 alpha-reductase 3 gene DOID:0050807 Kahrizi syndrome ISO RGD:1606233 D RGD:7240710 20180130 OMIM 12006303 SRD5A3 steroid 5 alpha-reductase 3 gene DOID:0050807 Kahrizi syndrome ISO RGD:1606233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kahrizi syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, CATARACT, COLOBOMA, AND KYPHOSIS, AUTOSOMAL RECESSIVE PMID:18781183|PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25326635|PMID:25741868|PMID:27480077|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362 12006303 SRD5A3 steroid 5 alpha-reductase 3 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1606233 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 12006303 SRD5A3 steroid 5 alpha-reductase 3 gene DOID:0080568 congenital disorder of glycosylation Iq ISO RGD:1606233 D RGD:7240710 20180130 OMIM 12006303 SRD5A3 steroid 5 alpha-reductase 3 gene DOID:0080568 congenital disorder of glycosylation Iq ISO RGD:1606233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1Q PMID:17576681|PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25326635|PMID:25741868|PMID:26219881|PMID:27480077|PMID:28492532|PMID:28940310|PMID:31319225|PMID:31638560|PMID:32581362|PMID:9536098 12006303 SRD5A3 steroid 5 alpha-reductase 3 gene DOID:1059 intellectual disability ISO RGD:1606233 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12006303 SRD5A3 steroid 5 alpha-reductase 3 gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1606233 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23349890 12006303 SRD5A3 steroid 5 alpha-reductase 3 gene DOID:12849 autistic disorder ISO RGD:1606233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autistic disorder PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25326635|PMID:25741868|PMID:27480077|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362 12006303 SRD5A3 steroid 5 alpha-reductase 3 gene DOID:255 hemangioma ISO RGD:1606233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemangioma PMID:25741868|PMID:28492532 12006303 SRD5A3 steroid 5 alpha-reductase 3 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1606233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:17576681|PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25326635|PMID:25741868|PMID:27480077|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362|PMID:9536098 12006303 SRD5A3 steroid 5 alpha-reductase 3 gene DOID:630 genetic disease ISO RGD:1606233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27480077|PMID:28492532 12006303 SRD5A3 steroid 5 alpha-reductase 3 gene DOID:9005603 Muscle Hypotonia ISO RGD:1606233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:28492532 12006303 SRD5A3 steroid 5 alpha-reductase 3 gene DOID:9006534 Nervous System Malformations ISO RGD:1606233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25326635|PMID:25741868|PMID:27480077|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362 12006303 SRD5A3 steroid 5 alpha-reductase 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1606233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25326635|PMID:25741868|PMID:27480077|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362 12006312 PHF11 PHD finger protein 11 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1321995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12006312 PHF11 PHD finger protein 11 gene DOID:1059 intellectual disability ISO RGD:1321995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12006312 PHF11 PHD finger protein 11 gene DOID:630 genetic disease ISO RGD:1321995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006345 YAP1 Yes1 associated transcriptional regulator gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1314421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 12006345 YAP1 Yes1 associated transcriptional regulator gene DOID:0050795 cone dystrophy ISO RGD:1550378 D RGD:9068941 20220825 MouseDO OMIM:180020 | OMIM:610024 | OMIM:610356 | OMIM:610478 | OMIM:613093 12006345 YAP1 Yes1 associated transcriptional regulator gene DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability ISO RGD:1314421 D RGD:7240710 20180130 OMIM 12006345 YAP1 Yes1 associated transcriptional regulator gene DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability ISO RGD:1314421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Uveal coloboma-cleft lip and palate-intellectual disability PMID:24462371|PMID:25741868|PMID:28492532|PMID:4997531 12006345 YAP1 Yes1 associated transcriptional regulator gene DOID:1059 intellectual disability ISO RGD:1314421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12006345 YAP1 Yes1 associated transcriptional regulator gene DOID:12270 coloboma ISO RGD:1314421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:24462371 12006345 YAP1 Yes1 associated transcriptional regulator gene DOID:12704 ataxia telangiectasia ISO RGD:1314421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12006345 YAP1 Yes1 associated transcriptional regulator gene DOID:255 hemangioma ISO RGD:1314421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31351048 12006345 YAP1 Yes1 associated transcriptional regulator gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:1314421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31494105 12006345 YAP1 Yes1 associated transcriptional regulator gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1314421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20729916 12006345 YAP1 Yes1 associated transcriptional regulator gene DOID:630 genetic disease ISO RGD:1314421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006345 YAP1 Yes1 associated transcriptional regulator gene DOID:684 hepatocellular carcinoma ISO RGD:1314421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29698666 12006345 YAP1 Yes1 associated transcriptional regulator gene DOID:769 neuroblastoma ISO RGD:1314421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 12006345 YAP1 Yes1 associated transcriptional regulator gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:1314421 D RGD:9068941 20220421 RGD PMID:28756200|REF_RGD_ID:151893490 12006345 YAP1 Yes1 associated transcriptional regulator gene DOID:9000918 Disease Progression ISO RGD:1314421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30703373 12006345 YAP1 Yes1 associated transcriptional regulator gene DOID:9000965 Neoplasm Metastasis ISO RGD:1314421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 12006345 YAP1 Yes1 associated transcriptional regulator gene DOID:9002762 Ovarian Neoplasms ISO RGD:1314421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20947521 12006345 YAP1 Yes1 associated transcriptional regulator gene DOID:9002801 Recurrence ISO RGD:1314421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 12006345 YAP1 Yes1 associated transcriptional regulator gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1314421 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34351699 12006345 YAP1 Yes1 associated transcriptional regulator gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1314421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30703373 12006345 YAP1 Yes1 associated transcriptional regulator gene DOID:9007502 Brain Neoplasms ISO RGD:1314421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 12006345 YAP1 Yes1 associated transcriptional regulator gene DOID:9008443 Colorectal Neoplasms ISO RGD:1314421 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:30510241|PMID:34351699 12006345 YAP1 Yes1 associated transcriptional regulator gene DOID:9008939 Breast Neoplasms ISO RGD:1314421 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:28114269|PMID:28524356 12006345 YAP1 Yes1 associated transcriptional regulator gene DOID:9256 colorectal cancer treatment ISO RGD:1314421 D RGD:9068941 20220728 RGD human cells in mouse model PMID:32682784|REF_RGD_ID:153297782 12006345 YAP1 Yes1 associated transcriptional regulator gene DOID:9538 multiple myeloma ISO RGD:1314421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12006382 C2AH2orf81 chromosome 2A C2orf81 homolog gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:2298834 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12006382 C2AH2orf81 chromosome 2A C2orf81 homolog gene DOID:543 dystonia ISO RGD:2298834 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12006382 C2AH2orf81 chromosome 2A C2orf81 homolog gene DOID:630 genetic disease ISO RGD:2298834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006382 C2AH2orf81 chromosome 2A C2orf81 homolog gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:2298834 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12006397 SLC6A19 solute carrier family 6 member 19 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1604954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 12006397 SLC6A19 solute carrier family 6 member 19 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1604954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 12006397 SLC6A19 solute carrier family 6 member 19 gene DOID:0112265 iminoglycinuria ISO RGD:1604954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Iminoglycinuria PMID:25741868|PMID:28492532 12006397 SLC6A19 solute carrier family 6 member 19 gene DOID:1060 Hartnup disease ISO RGD:1604954 D RGD:7240710 20180130 OMIM 12006397 SLC6A19 solute carrier family 6 member 19 gene DOID:1060 Hartnup disease ISO RGD:1604954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neutral 1 amino acid transport defect PMID:15286787|PMID:15286788|PMID:16199547|PMID:17555458|PMID:18484095|PMID:19033659|PMID:19185582|PMID:19472175|PMID:20399395|PMID:21814048|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28924877 12006397 SLC6A19 solute carrier family 6 member 19 gene DOID:10763 hypertension ISO RGD:1594328 D RGD:9068941 20200609 RGD mRNA:increased expression PMID:17264310|REF_RGD_ID:1600036 12006397 SLC6A19 solute carrier family 6 member 19 gene DOID:630 genetic disease ISO RGD:1604954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12006397 SLC6A19 solute carrier family 6 member 19 gene DOID:9002189 High Myopia ISO RGD:1604954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: High myopia PMID:15286788|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12006397 SLC6A19 solute carrier family 6 member 19 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1604954 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 12006397 SLC6A19 solute carrier family 6 member 19 gene DOID:9008487 Glycinuria with or without Oxalate Urolithiasis ISO RGD:1604954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperglycinuria | ClinVar Annotator: match by term: IMINOGLYCINURIA TYPE II PMID:15286787|PMID:15286788|PMID:16199547|PMID:17555458|PMID:17576681|PMID:18484095|PMID:19033659|PMID:19185582|PMID:19472175|PMID:21814048|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28924877|PMID:30626930|PMID:9536098 12006413 RAD50 RAD50 double strand break repair protein gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733899 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12006413 RAD50 RAD50 double strand break repair protein gene DOID:10283 prostate cancer ISO RGD:733899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 12006413 RAD50 RAD50 double strand break repair protein gene DOID:2394 ovarian cancer ISO RGD:733899 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:22216297|PMID:23555315|PMID:24894818|PMID:25151137|PMID:25741868|PMID:26689913|PMID:26757417|PMID:26787654|PMID:27783279|PMID:28102005|PMID:28492532|PMID:28550065|PMID:28961279|PMID:29338689|PMID:29891727|PMID:30306255|PMID:30441849|PMID:30982232|PMID:31159747|PMID:31742824|PMID:32566746|PMID:33471991 12006413 RAD50 RAD50 double strand break repair protein gene DOID:2661 myoepithelioma ISO RGD:733899 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor PMID:28492532 12006413 RAD50 RAD50 double strand break repair protein gene DOID:2671 transitional cell carcinoma ISO RGD:733899 D RGD:9068941 20200609 RGD upper urinary tract urothelial cell carcinoma; DNA:mutation:tumor:associated with microsatellite instability PMID:16288216|REF_RGD_ID:2293511 12006413 RAD50 RAD50 double strand break repair protein gene DOID:2841 asthma ISO RGD:733899 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24241537 12006413 RAD50 RAD50 double strand break repair protein gene DOID:3008 invasive ductal carcinoma ISO RGD:733899 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:reduced in 28% vs adjacent or independent normal breast tissue PMID:14511253|REF_RGD_ID:2300250 12006413 RAD50 RAD50 double strand break repair protein gene DOID:3459 breast carcinoma ISO RGD:733899 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:19409520|PMID:25741868|PMID:26023681|PMID:28123851|PMID:28492532|PMID:31794323|PMID:31980526|PMID:32658311|PMID:33471991 12006413 RAD50 RAD50 double strand break repair protein gene DOID:5082 liver cirrhosis treatment ISO RGD:621542 D RGD:9068941 20200609 RGD PMID:21893185|REF_RGD_ID:9831391 12006413 RAD50 RAD50 double strand break repair protein gene DOID:5426 primary ovarian insufficiency ISO RGD:733899 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:16385572|PMID:25503501|PMID:25741868|PMID:28492532|PMID:30924587|PMID:31159747|PMID:31980526|PMID:32658311|PMID:33471991 12006413 RAD50 RAD50 double strand break repair protein gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16385572|PMID:18281469|PMID:19409520|PMID:23555315|PMID:24240112|PMID:24894818|PMID:25151137|PMID:25452441|PMID:25741868|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26824983|PMID:27732944|PMID:27783279|PMID:28492532|PMID:28550065|PMID:29338689|PMID:29752822|PMID:30306255|PMID:30441849|PMID:31159747|PMID:31666926|PMID:32295079|PMID:32566746 12006413 RAD50 RAD50 double strand break repair protein gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733899 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18281469|PMID:19409520|PMID:23555315|PMID:24240112|PMID:24894818|PMID:25151137|PMID:25452441|PMID:25741868|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26824983|PMID:27732944|PMID:27783279|PMID:28492532|PMID:28550065|PMID:29338689|PMID:29752822|PMID:30306255|PMID:30441849|PMID:31159747|PMID:31666926|PMID:32295079|PMID:32566746 12006413 RAD50 RAD50 double strand break repair protein gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733899 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16385572|PMID:18281469|PMID:19409520|PMID:23555315|PMID:24240112|PMID:24894818|PMID:25151137|PMID:25452441|PMID:25741868|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26824983|PMID:27732944|PMID:27783279|PMID:28492532|PMID:28550065|PMID:28873162|PMID:29338689|PMID:29566657|PMID:29752822|PMID:29961768|PMID:30306255|PMID:30441849|PMID:30755392|PMID:31159747|PMID:31666926|PMID:31742824|PMID:32019284|PMID:32295079|PMID:32566746|PMID:32832836|PMID:32984025|PMID:33378670|PMID:33471991 12006413 RAD50 RAD50 double strand break repair protein gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733899 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16385572|PMID:18281469|PMID:19409520|PMID:23555315|PMID:24894818|PMID:25151137|PMID:25452441|PMID:25741868|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26824983|PMID:27732944|PMID:27783279|PMID:28492532|PMID:28550065|PMID:28873162|PMID:29338689|PMID:29566657|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29961768|PMID:30306255|PMID:30441849|PMID:30755392|PMID:31159747|PMID:31666926|PMID:31742824|PMID:32019284|PMID:32295079|PMID:32566746|PMID:32832836|PMID:32984025|PMID:33378670|PMID:33471991 12006413 RAD50 RAD50 double strand break repair protein gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733899 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16385572|PMID:18281469|PMID:19409520|PMID:23555315|PMID:24894818|PMID:25151137|PMID:25452441|PMID:25741868|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26824983|PMID:27732944|PMID:27783279|PMID:27913932|PMID:28492532|PMID:28550065|PMID:28873162|PMID:29338689|PMID:29566657|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29961768|PMID:30306255|PMID:30441849|PMID:30755392|PMID:31159747|PMID:31589614|PMID:31666926|PMID:31742824|PMID:32019284|PMID:32295079|PMID:32566746|PMID:32832836|PMID:32984025|PMID:33378670|PMID:33471991|PMID:34567246 12006413 RAD50 RAD50 double strand break repair protein gene DOID:5844 myocardial infarction treatment ISO RGD:621542 D RGD:9068941 20200609 RGD PMID:15623426|REF_RGD_ID:9831390 12006413 RAD50 RAD50 double strand break repair protein gene DOID:630 genetic disease ISO RGD:733899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12006413 RAD50 RAD50 double strand break repair protein gene DOID:684 hepatocellular carcinoma ISO RGD:733899 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:16385572|PMID:18281469|PMID:19409520|PMID:24894818|PMID:25452441|PMID:25741868|PMID:28492532|PMID:29961768|PMID:31159747|PMID:32295079 12006413 RAD50 RAD50 double strand break repair protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12006413 RAD50 RAD50 double strand break repair protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10415333|PMID:10892749|PMID:12208847|PMID:12376507|PMID:14684699|PMID:14698290|PMID:15855896|PMID:15948962|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:17713585|PMID:18281469|PMID:18487285|PMID:1887849|PMID:19092773|PMID:19190165|PMID:19279422|PMID:19383352|PMID:19409520|PMID:19584272|PMID:19638463|PMID:19763152|PMID:19904603|PMID:19917125|PMID:20307669|PMID:20571869|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21356067|PMID:21441914|PMID:21643010|PMID:21778326|PMID:21811815|PMID:2185891|PMID:22216297|PMID:22406018|PMID:23265383|PMID:23555315|PMID:24079363|PMID:24093751|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24497844|PMID:24549055|PMID:24556621|PMID:24763289|PMID:24853695|PMID:24894818|PMID:25117502|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25828805|PMID:25927356|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26635394|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27016235|PMID:27153395|PMID:27328445|PMID:27498913|PMID:27720647|PMID:27732944|PMID:27783279|PMID:27844240|PMID:27884173|PMID:27913932|PMID:28051113|PMID:28102005|PMID:28152038|PMID:28202063|PMID:28241424|PMID:28376765|PMID:28492532|PMID:28541631|PMID:28550065|PMID:28591191|PMID:28687971|PMID:28709830|PMID:28715532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28961279|PMID:29143133|PMID:29338689|PMID:29484706|PMID:29506128|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29945567|PMID:30067863|PMID:30093976|PMID:30178487|PMID:30262796|PMID:30283497|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30630526|PMID:30680046|PMID:30788456|PMID:30982232|PMID:31159747|PMID:31512090|PMID:31666926|PMID:31921681|PMID:32295079|PMID:32566746|PMID:32658311|PMID:32854451|PMID:33240314|PMID:33471991|PMID:33606809|PMID:34371384|PMID:9536098 12006413 RAD50 RAD50 double strand break repair protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733899 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10892749|PMID:12208847|PMID:12376507|PMID:14684699|PMID:14698290|PMID:15852023|PMID:15855896|PMID:15948962|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:17713585|PMID:17963004|PMID:18281469|PMID:18487285|PMID:1887849|PMID:19190165|PMID:19279422|PMID:19383352|PMID:19409520|PMID:19584272|PMID:19638463|PMID:19763152|PMID:19904603|PMID:19917125|PMID:20307669|PMID:20571869|PMID:20685668|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21356067|PMID:21441914|PMID:21643010|PMID:21778326|PMID:21811815|PMID:2185891|PMID:22216297|PMID:22406018|PMID:23265383|PMID:23555315|PMID:24079363|PMID:24093751|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24497844|PMID:24549055|PMID:24556621|PMID:24763289|PMID:24853695|PMID:24894818|PMID:25117502|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25927356|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26635394|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27016235|PMID:27153395|PMID:27328445|PMID:27498913|PMID:27720647|PMID:27732944|PMID:27783279|PMID:27844240|PMID:27884173|PMID:27913932|PMID:28051113|PMID:28102005|PMID:28152038|PMID:28202063|PMID:28241424|PMID:28376765|PMID:28492532|PMID:28541631|PMID:28550065|PMID:28591191|PMID:28687971|PMID:28709830|PMID:28715532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28961279|PMID:29143133|PMID:29338689|PMID:29484706|PMID:29506128|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29945567|PMID:30067863|PMID:30093976|PMID:30178487|PMID:30262796|PMID:30283497|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30630526|PMID:30680046|PMID:30788456|PMID:30982232|PMID:31159747|PMID:31512090|PMID:31666926|PMID:31921681|PMID:32187176|PMID:32295079|PMID:32566746|PMID:32658311|PMID:32854451|PMID:33240314|PMID:33471991|PMID:33606809|PMID:34371384|PMID:9536098 12006413 RAD50 RAD50 double strand break repair protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733899 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10892749|PMID:12208847|PMID:12376507|PMID:14684699|PMID:14698290|PMID:15852023|PMID:15855896|PMID:15948962|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:17713585|PMID:17963004|PMID:18281469|PMID:18487285|PMID:1887849|PMID:19190165|PMID:19279422|PMID:19383352|PMID:19409520|PMID:19584272|PMID:19638463|PMID:19763152|PMID:19904603|PMID:19917125|PMID:20307669|PMID:20571869|PMID:20600922|PMID:20685668|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21356067|PMID:21441914|PMID:21643010|PMID:21757780|PMID:21778326|PMID:21811815|PMID:2185891|PMID:22204421|PMID:22216297|PMID:22406018|PMID:23265383|PMID:23555315|PMID:24079363|PMID:24093751|PMID:24123366|PMID:24448499|PMID:24497844|PMID:24549055|PMID:24556621|PMID:24763289|PMID:24853695|PMID:24894818|PMID:25117502|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25927356|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26564480|PMID:26635394|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27009842|PMID:27016235|PMID:27153395|PMID:27328445|PMID:27498913|PMID:27720647|PMID:27732944|PMID:27782108|PMID:27783279|PMID:27844240|PMID:27884173|PMID:27913932|PMID:28051113|PMID:28102005|PMID:28123851|PMID:28152038|PMID:28202063|PMID:28241424|PMID:28376765|PMID:28492532|PMID:28541631|PMID:28550065|PMID:28591191|PMID:28687971|PMID:28709830|PMID:28715532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28961279|PMID:29143133|PMID:29338689|PMID:29368209|PMID:29484706|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29895855|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30178487|PMID:30262796|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30630526|PMID:30680046|PMID:30755392|PMID:30765449|PMID:30788456|PMID:30924587|PMID:30982232|PMID:31068370|PMID:31159747|PMID:31345636|PMID:31512090|PMID:31666926|PMID:31721094|PMID:31742824|PMID:31794323|PMID:31921681|PMID:31980526|PMID:32008151|PMID:32019284|PMID:32077636|PMID:32187176|PMID:32255556|PMID:32295079|PMID:32332016|PMID:32522261|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32832836|PMID:32854451|PMID:32984025|PMID:33134171|PMID:33240314|PMID:33378670|PMID:33471991|PMID:33606809|PMID:33606978|PMID:33754015|PMID:34371384|PMID:34572942|PMID:9536098 12006413 RAD50 RAD50 double strand break repair protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733899 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10892749|PMID:12208847|PMID:12376507|PMID:14684699|PMID:14698290|PMID:15852023|PMID:15855896|PMID:15948962|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:17713585|PMID:17963004|PMID:18281469|PMID:18487285|PMID:1887849|PMID:19190165|PMID:19279422|PMID:19383352|PMID:19409520|PMID:19584272|PMID:19638463|PMID:19763152|PMID:19904603|PMID:19917125|PMID:20307669|PMID:20571869|PMID:20600922|PMID:20685668|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21356067|PMID:21441914|PMID:21643010|PMID:21757780|PMID:21778326|PMID:21811815|PMID:2185891|PMID:22204421|PMID:22216297|PMID:22406018|PMID:23265383|PMID:23555315|PMID:24079363|PMID:24093751|PMID:24123366|PMID:24448499|PMID:24497844|PMID:24549055|PMID:24556621|PMID:24763289|PMID:24853695|PMID:24894818|PMID:25117502|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25927356|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26564480|PMID:26635394|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27009842|PMID:27016235|PMID:27153395|PMID:27328445|PMID:27498913|PMID:27720647|PMID:27732944|PMID:27782108|PMID:27783279|PMID:27844240|PMID:27884173|PMID:27913932|PMID:28050010|PMID:28051113|PMID:28102005|PMID:28123851|PMID:28152038|PMID:28202063|PMID:28241424|PMID:28376765|PMID:28492532|PMID:28541631|PMID:28550065|PMID:28591191|PMID:28687971|PMID:28709830|PMID:28715532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28961279|PMID:29143133|PMID:29338689|PMID:29368209|PMID:29484706|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29895855|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30178487|PMID:30262796|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30630526|PMID:30680046|PMID:30755392|PMID:30765449|PMID:30788456|PMID:30924587|PMID:30982232|PMID:31068370|PMID:31159747|PMID:31345636|PMID:31512090|PMID:31589614|PMID:31666926|PMID:31721094|PMID:31742824|PMID:31794323|PMID:31911633|PMID:31921681|PMID:31980526|PMID:32008151|PMID:32019284|PMID:32077636|PMID:32187176|PMID:32255556|PMID:32295079|PMID:32332016|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32832836|PMID:32854451|PMID:32984025|PMID:33099839|PMID:33134171|PMID:33240314|PMID:33378670|PMID:33471991|PMID:33606809|PMID:33606978|PMID:33754015|PMID:34371384|PMID:34567246|PMID:34572942|PMID:35187501|PMID:35626031|PMID:36035419|PMID:9536098 12006413 RAD50 RAD50 double strand break repair protein gene DOID:9008829 Nijmegen Breakage Syndrome-Like Disorder ISO RGD:733899 D RGD:7240710 20180130 OMIM 12006413 RAD50 RAD50 double strand break repair protein gene DOID:9008829 Nijmegen Breakage Syndrome-Like Disorder ISO RGD:733899 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Nijmegen breakage syndrome-like disorder PMID:10892749|PMID:14684699|PMID:15855896|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:18281469|PMID:1887849|PMID:19190165|PMID:19383352|PMID:19409520|PMID:19584272|PMID:19638463|PMID:19904603|PMID:19917125|PMID:20571869|PMID:20805886|PMID:20981092|PMID:21757780|PMID:21778326|PMID:21811815|PMID:22216297|PMID:23555315|PMID:24079363|PMID:24093751|PMID:24123366|PMID:24448499|PMID:24497844|PMID:24549055|PMID:24763289|PMID:24853695|PMID:24894818|PMID:25117502|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26564480|PMID:26635394|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27009842|PMID:27016235|PMID:27153395|PMID:27498913|PMID:27782108|PMID:27783279|PMID:27884173|PMID:28050010|PMID:28051113|PMID:28102005|PMID:28152038|PMID:28202063|PMID:28376765|PMID:28492532|PMID:28541631|PMID:28550065|PMID:28591191|PMID:28687971|PMID:28709830|PMID:28715532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:29143133|PMID:29338689|PMID:29368209|PMID:29484706|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29945567|PMID:29961768|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30441849|PMID:30613976|PMID:30680046|PMID:30755392|PMID:30788456|PMID:30924587|PMID:30982232|PMID:31159747|PMID:31345636|PMID:31512090|PMID:31666926|PMID:31721094|PMID:31742824|PMID:31911633|PMID:31921681|PMID:31980526|PMID:32019284|PMID:32077636|PMID:32212377|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32854451|PMID:32984025|PMID:33378670|PMID:33471991|PMID:33606809|PMID:33606978|PMID:34371384|PMID:9536098 12006413 RAD50 RAD50 double strand break repair protein gene DOID:9008939 Breast Neoplasms ISO RGD:733899 D RGD:9068941 20200609 RGD DNA:deletion, splicing error::687delT, increased frequency in Finnish patients (8/317, p=0.008), possibly a founder mutation PMID:16474176|REF_RGD_ID:2300220 12006413 RAD50 RAD50 double strand break repair protein gene DOID:9008939 Breast Neoplasms treatment ISO RGD:733899 D RGD:9068941 20200609 RGD human gene in a rat model PMID:11373271|REF_RGD_ID:9831192 12006413 RAD50 RAD50 double strand break repair protein gene DOID:9008952 Breast Cancer, Familial ISO RGD:733899 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:24894818|PMID:25741868|PMID:26689913|PMID:26787654|PMID:28492532|PMID:28550065|PMID:30306255|PMID:30441849|PMID:31159747|PMID:32566746|PMID:33471991 12006443 CCHCR1 coiled-coil alpha-helical rod protein 1 gene DOID:0050553 JMP syndrome ISO RGD:1344859 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12006443 CCHCR1 coiled-coil alpha-helical rod protein 1 gene DOID:11372 megacolon ISO RGD:1344859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12006443 CCHCR1 coiled-coil alpha-helical rod protein 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1344859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29379198 12006443 CCHCR1 coiled-coil alpha-helical rod protein 1 gene DOID:630 genetic disease ISO RGD:1344859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006443 CCHCR1 coiled-coil alpha-helical rod protein 1 gene DOID:670 amphetamine abuse ISO RGD:1344859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12006443 CCHCR1 coiled-coil alpha-helical rod protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743467 12006443 CCHCR1 coiled-coil alpha-helical rod protein 1 gene DOID:986 alopecia areata ISO RGD:1617323 D RGD:9068941 20220825 MouseDO OMIM:104000 | OMIM:610753 12006485 TMEM52B transmembrane protein 52B gene DOID:630 genetic disease ISO RGD:1606983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006499 MAP3K20 mitogen-activated protein kinase kinase kinase 20 gene DOID:0090020 split hand-foot malformation ISO RGD:1601997 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: SPLIT-HAND DEFORMITY PMID:26755636 12006499 MAP3K20 mitogen-activated protein kinase kinase kinase 20 gene DOID:0090021 split hand-foot malformation 1 ISO RGD:1601997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Split-hand/foot malformation 1 PMID:26755636 12006499 MAP3K20 mitogen-activated protein kinase kinase kinase 20 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1601997 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12006499 MAP3K20 mitogen-activated protein kinase kinase kinase 20 gene DOID:0111221 centronuclear myopathy 6 with fiber-type disproportion ISO RGD:1601997 D RGD:7240710 20190315 OMIM 12006499 MAP3K20 mitogen-activated protein kinase kinase kinase 20 gene DOID:0111221 centronuclear myopathy 6 with fiber-type disproportion ISO RGD:1601997 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 6, with fiber-type disproportion PMID:16760198|PMID:25741868|PMID:27816943|PMID:28492532 12006499 MAP3K20 mitogen-activated protein kinase kinase kinase 20 gene DOID:630 genetic disease ISO RGD:1601997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12006499 MAP3K20 mitogen-activated protein kinase kinase kinase 20 gene DOID:9008338 Split-Foot Malformation with Mesoaxial Polydactyly ISO RGD:1601997 D RGD:7240710 20190315 OMIM 12006499 MAP3K20 mitogen-activated protein kinase kinase kinase 20 gene DOID:9008338 Split-Foot Malformation with Mesoaxial Polydactyly ISO RGD:1601997 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Split-foot malformation with mesoaxial polydactyly PMID:25741868|PMID:26755636|PMID:28492532 12006537 SLX1A SLX1 homolog A, structure-specific endonuclease subunit gene DOID:0060019 coronin-1A deficiency ISO RGD:1603444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION PMID:28492532 12006537 SLX1A SLX1 homolog A, structure-specific endonuclease subunit gene DOID:0060041 autism spectrum disorder ISO RGD:1603444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12006537 SLX1A SLX1 homolog A, structure-specific endonuclease subunit gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1603444 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 12006537 SLX1A SLX1 homolog A, structure-specific endonuclease subunit gene DOID:0090066 Fanconi-like syndrome ISO RGD:1551164 D RGD:9068941 20220825 MouseDO OMIM:227850 12006537 SLX1A SLX1 homolog A, structure-specific endonuclease subunit gene DOID:12849 autistic disorder ISO RGD:1603444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12006537 SLX1A SLX1 homolog A, structure-specific endonuclease subunit gene DOID:5419 schizophrenia ISO RGD:1603444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12006537 SLX1A SLX1 homolog A, structure-specific endonuclease subunit gene DOID:630 genetic disease ISO RGD:1603444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006537 SLX1A SLX1 homolog A, structure-specific endonuclease subunit gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1603444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 12006547 GARIN1B golgi associated RAB2 interactor 1B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12006547 GARIN1B golgi associated RAB2 interactor 1B gene DOID:630 genetic disease ISO RGD:1606759 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006584 DEFB121 defensin beta 121 gene DOID:630 genetic disease ISO RGD:1344288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006610 RNASE12 ribonuclease A family member 12 (inactive) gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1353641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 12006610 RNASE12 ribonuclease A family member 12 (inactive) gene DOID:630 genetic disease ISO RGD:1353641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006641 STAP2 signal transducing adaptor family member 2 gene DOID:13938 amenorrhea ISO RGD:1601996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12006641 STAP2 signal transducing adaptor family member 2 gene DOID:630 genetic disease ISO RGD:1601996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006662 TTC7B tetratricopeptide repeat domain 7B gene DOID:0080054 achondrogenesis type IA ISO RGD:1314238 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12006662 TTC7B tetratricopeptide repeat domain 7B gene DOID:630 genetic disease ISO RGD:1314238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006693 IFT74 intraflagellar transport 74 gene DOID:0050545 visceral heterotaxy ISO RGD:1623977 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 12006693 IFT74 intraflagellar transport 74 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1342560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:29068549 12006693 IFT74 intraflagellar transport 74 gene DOID:0060041 autism spectrum disorder ISO RGD:1342560 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12006693 IFT74 intraflagellar transport 74 gene DOID:0081011 Bardet-Biedl syndrome 22 ISO RGD:1342560 D RGD:7240710 20190315 OMIM 12006693 IFT74 intraflagellar transport 74 gene DOID:0081011 Bardet-Biedl syndrome 22 ISO RGD:1342560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 22 PMID:17576681|PMID:25741868|PMID:27486776|PMID:28492532|PMID:32144365|PMID:33531668|PMID:33748949|PMID:9536098 12006693 IFT74 intraflagellar transport 74 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1342560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:17576681|PMID:28492532|PMID:29068549|PMID:9536098 12006693 IFT74 intraflagellar transport 74 gene DOID:0112352 spermatogenic failure 58 ISO RGD:1342560 D RGD:7240710 20211110 OMIM 12006693 IFT74 intraflagellar transport 74 gene DOID:0112352 spermatogenic failure 58 ISO RGD:1342560 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 58 PMID:25741868|PMID:33689014 12006693 IFT74 intraflagellar transport 74 gene DOID:10907 microcephaly ISO RGD:1342560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12006693 IFT74 intraflagellar transport 74 gene DOID:630 genetic disease ISO RGD:1342560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33531668|PMID:34539760 12006693 IFT74 intraflagellar transport 74 gene DOID:9000733 Joubert Syndrome 40 ISO RGD:1342560 D RGD:7240710 20211110 OMIM 12006693 IFT74 intraflagellar transport 74 gene DOID:9000733 Joubert Syndrome 40 ISO RGD:1342560 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Joubert syndrome 40 PMID:25741868|PMID:28492532|PMID:31690835|PMID:33531668|PMID:34539760 12006716 ERI1 exoribonuclease 1 gene DOID:13938 amenorrhea ISO RGD:1605015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12006716 ERI1 exoribonuclease 1 gene DOID:630 genetic disease ISO RGD:1605015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006716 ERI1 exoribonuclease 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12006716 ERI1 exoribonuclease 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1605015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12006727 ZC3H3 zinc finger CCCH-type containing 3 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1316375 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12006727 ZC3H3 zinc finger CCCH-type containing 3 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1316375 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12006727 ZC3H3 zinc finger CCCH-type containing 3 gene DOID:1227 neutropenia ISO RGD:1316375 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 12006727 ZC3H3 zinc finger CCCH-type containing 3 gene DOID:4621 holoprosencephaly ISO RGD:1316375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12006727 ZC3H3 zinc finger CCCH-type containing 3 gene DOID:630 genetic disease ISO RGD:1316375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006744 TTC22 tetratricopeptide repeat domain 22 gene DOID:630 genetic disease ISO RGD:1605998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006758 SNX8 sorting nexin 8 gene DOID:0080600 COVID-19 ISO RGD:1314037 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12006758 SNX8 sorting nexin 8 gene DOID:630 genetic disease ISO RGD:1314037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006781 DIRAS2 DIRAS family GTPase 2 gene DOID:630 genetic disease ISO RGD:1313693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006787 UBE2B ubiquitin conjugating enzyme E2 B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349526 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12006787 UBE2B ubiquitin conjugating enzyme E2 B gene DOID:630 genetic disease ISO RGD:1349526 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006787 UBE2B ubiquitin conjugating enzyme E2 B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12006787 UBE2B ubiquitin conjugating enzyme E2 B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12006787 UBE2B ubiquitin conjugating enzyme E2 B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349526 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12006797 KLK5 kallikrein related peptidase 5 gene DOID:630 genetic disease ISO RGD:1320514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006797 KLK5 kallikrein related peptidase 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320514 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16517595 12006807 CLCA4 chloride channel accessory 4 gene DOID:630 genetic disease ISO RGD:1351138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006828 PIK3C2B phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1315215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12006828 PIK3C2B phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta gene DOID:12849 autistic disorder ISO RGD:1315215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12006828 PIK3C2B phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta gene DOID:1540 parathyroid carcinoma ISO RGD:1315215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12006828 PIK3C2B phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta gene DOID:630 genetic disease ISO RGD:1315215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006828 PIK3C2B phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta gene DOID:9000965 Neoplasm Metastasis ISO RGD:1315215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21986133 12006828 PIK3C2B phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1315215 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12006828 PIK3C2B phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12006883 CAPZA3 capping actin protein of muscle Z-line subunit alpha 3 gene DOID:12336 male infertility ISO RGD:1353508 D RGD:9068941 20200609 RGD mRNA:decreased expression:semen PMID:27114798|REF_RGD_ID:18899565 12006883 CAPZA3 capping actin protein of muscle Z-line subunit alpha 3 gene DOID:12336 male infertility ISO RGD:736848 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.M44K (human) PMID:19341723|REF_RGD_ID:19165126 12006883 CAPZA3 capping actin protein of muscle Z-line subunit alpha 3 gene DOID:630 genetic disease ISO RGD:1353508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006888 TNFRSF17 TNF receptor superfamily member 17 gene DOID:0080600 COVID-19 ISO RGD:1312303 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12006888 TNFRSF17 TNF receptor superfamily member 17 gene DOID:1520 colon carcinoma ISO RGD:1312303 D RGD:9068941 20200609 RGD PMID:11104810|REF_RGD_ID:2317311 12006888 TNFRSF17 TNF receptor superfamily member 17 gene DOID:5419 schizophrenia ISO RGD:1312303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12006888 TNFRSF17 TNF receptor superfamily member 17 gene DOID:630 genetic disease ISO RGD:1312303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006888 TNFRSF17 TNF receptor superfamily member 17 gene DOID:6785 desmoplastic small round cell tumor ISO RGD:1312303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmoplastic small round cell tumor PMID:26822237 12006888 TNFRSF17 TNF receptor superfamily member 17 gene DOID:9538 multiple myeloma ISO RGD:1312303 D RGD:9068941 20200609 RGD PMID:15692072|REF_RGD_ID:2317306 12006895 FCRL1 Fc receptor like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1602077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12006895 FCRL1 Fc receptor like 1 gene DOID:630 genetic disease ISO RGD:1602077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006895 FCRL1 Fc receptor like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12006924 XYLB xylulokinase gene DOID:0050451 Brugada syndrome ISO RGD:1316534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 12006924 XYLB xylulokinase gene DOID:630 genetic disease ISO RGD:1316534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006924 XYLB xylulokinase gene DOID:9001436 Immunodeficiency 68 ISO RGD:1316534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY PMID:28492532 12006924 XYLB xylulokinase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1316534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12006924 XYLB xylulokinase gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1316534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 12006966 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:0060019 coronin-1A deficiency ISO RGD:1601852 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:28492532 12006966 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1601852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12006966 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1601852 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 12006966 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1601852 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 12006966 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1601852 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12006966 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1601852 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 12006966 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:12849 autistic disorder ISO RGD:1601852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12006966 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:1882 atrial heart septal defect ISO RGD:1601852 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12006966 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:5419 schizophrenia ISO RGD:1601852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12006966 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:630 genetic disease ISO RGD:1601852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12006966 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12006966 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1601852 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12006966 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1601852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 12006966 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:9455 lipid storage disease ISO RGD:1601852 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414|PMID:17175557 12006996 MID1 midline 1 gene DOID:0060408 chromosome 19q13.11 deletion syndrome ISO RGD:732275 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chromosome 19q13.11 deletion syndrome, distal PMID:25741868 12006996 MID1 midline 1 gene DOID:0080697 Opitz GBBB syndrome ISO RGD:732275 D RGD:7240710 20180130 OMIM 12006996 MID1 midline 1 gene DOID:0080697 Opitz GBBB syndrome ISO RGD:732275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I PMID:11030761|PMID:12545276|PMID:15121778|PMID:15558842|PMID:17221865|PMID:18360914|PMID:18949047|PMID:20671548|PMID:21326312|PMID:23757202|PMID:25207814|PMID:25304119|PMID:25741868|PMID:25874572|PMID:27749392|PMID:28492532|PMID:29456483|PMID:32926417|PMID:9354791 12006996 MID1 midline 1 gene DOID:0080698 Teebi hypertelorism syndrome 1 ISO RGD:732275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Opitz-Frias syndrome PMID:11030761|PMID:12545276|PMID:15121778|PMID:15558842|PMID:17221865|PMID:18360914|PMID:18949047|PMID:20671548|PMID:21326312|PMID:23757202|PMID:25207814|PMID:25304119|PMID:25741868|PMID:25874572|PMID:27749392|PMID:28492532|PMID:29456483|PMID:32926417|PMID:9354791 12006996 MID1 midline 1 gene DOID:10629 microphthalmia ISO RGD:732276 D RGD:9068941 20220825 MouseDO OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972 12006996 MID1 midline 1 gene DOID:12849 autistic disorder ISO RGD:732275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12006996 MID1 midline 1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:732275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker malformation PMID:15121778|PMID:15558842|PMID:25741868 12006996 MID1 midline 1 gene DOID:630 genetic disease ISO RGD:732275 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18360914|PMID:18414213|PMID:25741868|PMID:28492532 12006996 MID1 midline 1 gene DOID:9003133 Hypertelorism ISO RGD:732275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 12006996 MID1 midline 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12007021 TNFRSF10D TNF receptor superfamily member 10d gene DOID:630 genetic disease ISO RGD:1346827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12007021 TNFRSF10D TNF receptor superfamily member 10d gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1346827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 12007034 CHD1 chromodomain helicase DNA binding protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1315610 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12007034 CHD1 chromodomain helicase DNA binding protein 1 gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1315610 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:22722839|REF_RGD_ID:9587749 12007034 CHD1 chromodomain helicase DNA binding protein 1 gene DOID:10283 prostate cancer ISO RGD:1315610 D RGD:9068941 20200609 RGD DNA:deletions: : PMID:22179824|REF_RGD_ID:9587750 12007034 CHD1 chromodomain helicase DNA binding protein 1 gene DOID:12849 autistic disorder ISO RGD:1315610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 12007034 CHD1 chromodomain helicase DNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1315610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12007034 CHD1 chromodomain helicase DNA binding protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12007034 CHD1 chromodomain helicase DNA binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12007034 CHD1 chromodomain helicase DNA binding protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315610 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12007034 CHD1 chromodomain helicase DNA binding protein 1 gene DOID:9008023 Memory Disorders ISO RGD:1315610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30728766 12007034 CHD1 chromodomain helicase DNA binding protein 1 gene DOID:9008136 Pilarowski-Bjornsson Syndrome ISO RGD:1315610 D RGD:7240710 20190315 OMIM 12007034 CHD1 chromodomain helicase DNA binding protein 1 gene DOID:9008136 Pilarowski-Bjornsson Syndrome ISO RGD:1315610 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pilarowski-Bjornsson syndrome PMID:25741868|PMID:28492532|PMID:28866611 12007034 CHD1 chromodomain helicase DNA binding protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1315610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 12007074 SPX spexin hormone gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:1606773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:28492532 12007074 SPX spexin hormone gene DOID:630 genetic disease ISO RGD:1606773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12007085 CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:0060250 idiopathic scoliosis ISO RGD:733345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic scoliosis PMID:28492532|PMID:29240829 12007085 CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:0060373 orofaciodigital syndrome III ISO RGD:733345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome III 12007085 CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:0080365 endometrial hyperplasia ISO RGD:733345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22248470 12007085 CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:733345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12007085 CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:10908 hydrocephalus ISO RGD:736028 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 12007085 CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:12849 autistic disorder ISO RGD:733345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12007085 CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:3393 coronary artery disease ISO RGD:733345 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 12007085 CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:630 genetic disease ISO RGD:733345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12007085 CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:9008086 Developmental Disabilities ISO RGD:733345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:26539891 12007085 CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:733345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 12007123 RIMKLB ribosomal modification protein rimK like family member B gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1606518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12007123 RIMKLB ribosomal modification protein rimK like family member B gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1606518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12007123 RIMKLB ribosomal modification protein rimK like family member B gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1606518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12007123 RIMKLB ribosomal modification protein rimK like family member B gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1606518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12007123 RIMKLB ribosomal modification protein rimK like family member B gene DOID:0111621 Temtamy syndrome ISO RGD:1606518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12007123 RIMKLB ribosomal modification protein rimK like family member B gene DOID:630 genetic disease ISO RGD:1606518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12007123 RIMKLB ribosomal modification protein rimK like family member B gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1606518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12007161 C1QBP complement C1q binding protein gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1342690 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 12007161 C1QBP complement C1q binding protein gene DOID:0111495 combined oxidative phosphorylation deficiency 33 ISO RGD:1342690 D RGD:7240710 20190315 OMIM 12007161 C1QBP complement C1q binding protein gene DOID:0111495 combined oxidative phosphorylation deficiency 33 ISO RGD:1342690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 33 PMID:28492532|PMID:28942965|PMID:32652806|PMID:34003581 12007161 C1QBP complement C1q binding protein gene DOID:630 genetic disease ISO RGD:1342690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12007161 C1QBP complement C1q binding protein gene DOID:9008939 Breast Neoplasms ISO RGD:1342690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 12007174 PIP5K1C phosphatidylinositol-4-phosphate 5-kinase type 1 gamma gene DOID:0060653 lethal congenital contracture syndrome 3 ISO RGD:1320550 D RGD:7240710 20180130 OMIM 12007174 PIP5K1C phosphatidylinositol-4-phosphate 5-kinase type 1 gamma gene DOID:0060653 lethal congenital contracture syndrome 3 ISO RGD:1320550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 3 PMID:17701898|PMID:25741868 12007174 PIP5K1C phosphatidylinositol-4-phosphate 5-kinase type 1 gamma gene DOID:630 genetic disease ISO RGD:1320550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12007211 EXT2 exostosin glycosyltransferase 2 gene DOID:1059 intellectual disability ISO RGD:1317052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12007211 EXT2 exostosin glycosyltransferase 2 gene DOID:206 hereditary multiple exostoses ISO RGD:1317052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis | ClinVar Annotator: match by term: Multiple osteochondromas PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12007211 EXT2 exostosin glycosyltransferase 2 gene DOID:2394 ovarian cancer ISO RGD:1317052 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532|PMID:28849184 12007211 EXT2 exostosin glycosyltransferase 2 gene DOID:4624 Ollier disease ISO RGD:1317052 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OSTEOCHONDROMATOSIS PMID:25741868|PMID:28492532 12007211 EXT2 exostosin glycosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1317052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10679937|PMID:19810120|PMID:21520333|PMID:25741868|PMID:28492532|PMID:32293802 12007211 EXT2 exostosin glycosyltransferase 2 gene DOID:687 hepatoblastoma ISO RGD:1317052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 12007211 EXT2 exostosin glycosyltransferase 2 gene DOID:9001680 SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS ISO RGD:1317052 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans PMID:25741868 12007211 EXT2 exostosin glycosyltransferase 2 gene DOID:9003693 Multiple Exostoses Type II ISO RGD:1317052 D RGD:7240710 20180130 OMIM 12007211 EXT2 exostosin glycosyltransferase 2 gene DOID:9003693 Multiple Exostoses Type II ISO RGD:1317052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE II | ClinVar Annotator: match by term: Exostoses, multiple, type 2 PMID:10480354|PMID:10671060|PMID:10679937|PMID:10713884|PMID:10750558|PMID:11169766|PMID:11170095|PMID:11432960|PMID:11668521|PMID:12239711|PMID:12490068|PMID:15221792|PMID:15586175|PMID:15796962|PMID:16088908|PMID:16199547|PMID:16283885|PMID:17041877|PMID:17301954|PMID:17576681|PMID:17589361|PMID:18165274|PMID:18373409|PMID:18666861|PMID:18976157|PMID:19309273|PMID:19344451|PMID:19504431|PMID:19810120|PMID:19839753|PMID:20425833|PMID:21520333|PMID:21703028|PMID:22258776|PMID:22382802|PMID:22820392|PMID:23262345|PMID:23439489|PMID:23629877|PMID:24496678|PMID:24532482|PMID:24728327|PMID:24728384|PMID:25230886|PMID:25449079|PMID:25468659|PMID:25591329|PMID:25741868|PMID:25744876|PMID:26246518|PMID:26402641|PMID:26961984|PMID:28166811|PMID:28492532|PMID:28690282|PMID:28849184|PMID:29126381|PMID:29529714|PMID:29625052|PMID:30075207|PMID:30288735|PMID:30334991|PMID:30806661|PMID:30997052|PMID:31030431|PMID:31096510|PMID:32293802|PMID:34070849|PMID:34092239|PMID:8894688|PMID:9326317|PMID:9463333|PMID:9536098 12007211 EXT2 exostosin glycosyltransferase 2 gene DOID:9005285 Osteochondromatosis ISO RGD:1317052 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OSTEOCHONDROMATOSIS PMID:25741868|PMID:28492532 12007211 EXT2 exostosin glycosyltransferase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10679937|PMID:11432960|PMID:17589361|PMID:19344451|PMID:19810120|PMID:24496678|PMID:25741868|PMID:28492532|PMID:8894688|PMID:9463333 12007211 EXT2 exostosin glycosyltransferase 2 gene DOID:9009204 SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME ISO RGD:1317052 D RGD:7240710 20180822 OMIM 12007211 EXT2 exostosin glycosyltransferase 2 gene DOID:9009204 SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME ISO RGD:1317052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizures, scoliosis, and macrocephaly syndrome PMID:10679937|PMID:10713884|PMID:10750558|PMID:11432960|PMID:16199547|PMID:16283885|PMID:17041877|PMID:19344451|PMID:19810120|PMID:23439489|PMID:24728327|PMID:25741868|PMID:28492532|PMID:30075207|PMID:30288735|PMID:30997052|PMID:34092239|PMID:9326317 12007239 MAGEA10 MAGE family member A10 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12007239 MAGEA10 MAGE family member A10 gene DOID:12849 autistic disorder ISO RGD:1345818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12007239 MAGEA10 MAGE family member A10 gene DOID:630 genetic disease ISO RGD:1345818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12007251 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0050585 congenital generalized lipodystrophy ISO RGD:1319453 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital generalized lipodystrophy PMID:19226263|PMID:24498038|PMID:25741868 12007251 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0050777 Joubert syndrome ISO RGD:1319453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12007251 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1319453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12007251 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1319453 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12007251 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1319453 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12007251 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1319453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12007251 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1319453 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12007251 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1319453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 12007251 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1319453 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12007251 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0080600 COVID-19 ISO RGD:1319453 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12007251 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1319453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12007251 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0111135 congenital generalized lipodystrophy type 1 ISO RGD:1319453 D RGD:7240710 20180314 OMIM 12007251 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0111135 congenital generalized lipodystrophy type 1 ISO RGD:1319453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 1 PMID:11967537|PMID:12765973|PMID:14557463|PMID:14715872|PMID:15181077|PMID:15629135|PMID:18414213|PMID:18640396|PMID:19026526|PMID:21744063|PMID:22831748|PMID:24498038|PMID:25195639|PMID:25741868|PMID:26072926|PMID:26336158|PMID:27144933|PMID:28492532|PMID:30319454|PMID:32117065 12007251 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:10283 prostate cancer ISO RGD:1319453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12007251 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:1826 epilepsy ISO RGD:1319453 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12007251 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:3652 Leigh disease ISO RGD:1319453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12007251 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:630 genetic disease ISO RGD:1319453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12007251 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:811 lipodystrophy susceptibility ISO RGD:1319453 D RGD:9068941 20200609 RGD PMID:11967537|REF_RGD_ID:1598785 12007251 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1319453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12007251 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:9351 diabetes mellitus ISO RGD:1319453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:22831748|PMID:25741868|PMID:26336158|PMID:28492532|PMID:30319454 12007261 MORC4 MORC family CW-type zinc finger 4 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1345473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 12007261 MORC4 MORC family CW-type zinc finger 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12007261 MORC4 MORC family CW-type zinc finger 4 gene DOID:12849 autistic disorder ISO RGD:1345473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12007261 MORC4 MORC family CW-type zinc finger 4 gene DOID:630 genetic disease ISO RGD:1345473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12007283 TSKU tsukushi, small leucine rich proteoglycan gene DOID:1059 intellectual disability ISO RGD:1601763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12007283 TSKU tsukushi, small leucine rich proteoglycan gene DOID:630 genetic disease ISO RGD:1601763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12007302 AGAP3 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1321839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 12007302 AGAP3 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 gene DOID:2843 long QT syndrome ISO RGD:1321839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 12007302 AGAP3 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 gene DOID:630 genetic disease ISO RGD:1321839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12007325 ISL2 ISL LIM homeobox 2 gene DOID:2717 Bloom syndrome ISO RGD:732662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12007325 ISL2 ISL LIM homeobox 2 gene DOID:5419 schizophrenia ISO RGD:732662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12007325 ISL2 ISL LIM homeobox 2 gene DOID:630 genetic disease ISO RGD:732662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12007325 ISL2 ISL LIM homeobox 2 gene DOID:9256 colorectal cancer ISO RGD:732662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12007334 LIN28B lin-28 homolog B gene DOID:14566 disease of cellular proliferation ISO RGD:1604919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19483683 12007334 LIN28B lin-28 homolog B gene DOID:630 genetic disease ISO RGD:1604919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12007334 LIN28B lin-28 homolog B gene DOID:769 neuroblastoma ISO RGD:1604919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941191|PMID:23042116 12007334 LIN28B lin-28 homolog B gene DOID:769 neuroblastoma ISO RGD:1615523 D RGD:9068941 20220825 MouseDO OMIM:256700 | OMIM:613013 | OMIM:613015 | OMIM:613016 12007334 LIN28B lin-28 homolog B gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1604919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19483683 12007348 NUP210 nucleoporin 210 gene DOID:0060417 3p deletion syndrome ISO RGD:1346505 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12007348 NUP210 nucleoporin 210 gene DOID:630 genetic disease ISO RGD:1346505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12007391 FAM83A family with sequence similarity 83 member A gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1602845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12007391 FAM83A family with sequence similarity 83 member A gene DOID:630 genetic disease ISO RGD:1602845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12007391 FAM83A family with sequence similarity 83 member A gene DOID:9000918 Disease Progression ISO RGD:1602845 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34931434 12007391 FAM83A family with sequence similarity 83 member A gene DOID:9002762 Ovarian Neoplasms ISO RGD:1602845 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34931434 12007391 FAM83A family with sequence similarity 83 member A gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1602845 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34931434 12007397 PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:69042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 12007397 PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:69042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 12007397 PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 gene DOID:12849 autistic disorder ISO RGD:69042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12007397 PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:69042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12007397 PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 gene DOID:630 genetic disease ISO RGD:69042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12007397 PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:69042 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12007397 PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:69042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12007425 ACADM acyl-CoA dehydrogenase medium chain gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:735259 D RGD:7240710 20180130 OMIM 12007425 ACADM acyl-CoA dehydrogenase medium chain gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:735259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:10767181|PMID:11263545|PMID:11346377|PMID:11349232|PMID:11409868|PMID:11486912|PMID:11673361|PMID:1356169|PMID:1361190|PMID:1447668|PMID:15171998|PMID:15171999|PMID:15479234|PMID:1570195|PMID:15832312|PMID:15915086|PMID:1594327|PMID:1601002|PMID:16121256|PMID:16199547|PMID:16291504|PMID:16617240|PMID:1671131|PMID:16737882|PMID:16763904|PMID:1678810|PMID:1679031|PMID:1684086|PMID:16972171|PMID:17273963|PMID:1729890|PMID:1756601|PMID:17576681|PMID:18075239|PMID:18188679|PMID:18241067|PMID:18450854|PMID:18767270|PMID:18836889|PMID:1902818|PMID:19064330|PMID:19156839|PMID:19224950|PMID:19649258|PMID:19699128|PMID:1972503|PMID:19780764|PMID:20036593|PMID:20301597|PMID:20333879|PMID:20434380|PMID:20437613|PMID:2046713|PMID:20567907|PMID:20580581|PMID:21083904|PMID:21228398|PMID:21239873|PMID:21483992|PMID:21704015|PMID:21929648|PMID:22166308|PMID:2251268|PMID:22542437|PMID:22630369|PMID:22683754|PMID:22796001|PMID:22848008|PMID:22975760|PMID:22995991|PMID:23028790|PMID:23095120|PMID:23151387|PMID:23430840|PMID:23509891|PMID:23546811|PMID:23574375|PMID:23700290|PMID:23757202|PMID:23798014|PMID:23810226|PMID:23829193|PMID:23842438|PMID:2393404|PMID:2394825|PMID:24033266|PMID:24082139|PMID:24294134|PMID:24623196|PMID:24718418|PMID:24799540|PMID:24966162|PMID:24998633|PMID:25087612|PMID:25255367|PMID:25333063|PMID:25503862|PMID:25640679|PMID:25689098|PMID:25741868|PMID:25763512|PMID:25940036|PMID:26215884|PMID:26223887|PMID:26467025|PMID:26798524|PMID:26947917|PMID:26990548|PMID:27308838|PMID:27477829|PMID:27751224|PMID:27843123|PMID:27856190|PMID:27943070|PMID:27976856|PMID:28492532|PMID:28581210|PMID:29247206|PMID:29285339|PMID:29350094|PMID:29519241|PMID:30626930|PMID:30675864|PMID:30838026|PMID:31012112|PMID:31033143|PMID:31620161|PMID:31737040|PMID:31836396|PMID:32778825|PMID:32793418|PMID:33123633|PMID:33514801|PMID:33580884|PMID:33841490|PMID:34539730|PMID:34578803|PMID:3786030|PMID:6434827|PMID:7603790|PMID:7633427|PMID:7652482|PMID:7720752|PMID:7730333|PMID:7904584|PMID:7929823|PMID:8102510|PMID:8104486|PMID:8198141|PMID:8215568|PMID:8535441|PMID:8682492|PMID:9158144|PMID:9536098|PMID:9797589|PMID:9882619 12007425 ACADM acyl-CoA dehydrogenase medium chain gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:2012 D RGD:9068941 20200609 RGD PMID:23076603|REF_RGD_ID:10047124 12007425 ACADM acyl-CoA dehydrogenase medium chain gene DOID:630 genetic disease ISO RGD:735259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11263545|PMID:11346377|PMID:11349232|PMID:11409868|PMID:11486912|PMID:1361190|PMID:1447668|PMID:15479234|PMID:1570195|PMID:15832312|PMID:1601002|PMID:16291504|PMID:16617240|PMID:1671131|PMID:16737882|PMID:16763904|PMID:1678810|PMID:1679031|PMID:1684086|PMID:1756601|PMID:18188679|PMID:18241067|PMID:1902818|PMID:19224950|PMID:1972503|PMID:19780764|PMID:20036593|PMID:20301597|PMID:20333879|PMID:20434380|PMID:2046713|PMID:21228398|PMID:22166308|PMID:2251268|PMID:22630369|PMID:22848008|PMID:22975760|PMID:23028790|PMID:23509891|PMID:23574375|PMID:23842438|PMID:2393404|PMID:2394825|PMID:24033266|PMID:24082139|PMID:24623196|PMID:24718418|PMID:24799540|PMID:24966162|PMID:24998633|PMID:25087612|PMID:25255367|PMID:25333063|PMID:25741868|PMID:25763512|PMID:25940036|PMID:26215884|PMID:26223887|PMID:26467025|PMID:26947917|PMID:27308838|PMID:27477829|PMID:27976856|PMID:28492532|PMID:29247206|PMID:30626930|PMID:31012112|PMID:32778825|PMID:33580884|PMID:33841490|PMID:3786030|PMID:6434827|PMID:7652482|PMID:7720752|PMID:7730333|PMID:7904584|PMID:8104486|PMID:9158144|PMID:9797589 12007425 ACADM acyl-CoA dehydrogenase medium chain gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 12007425 ACADM acyl-CoA dehydrogenase medium chain gene DOID:9003370 Dyslipidemias ISO RGD:735259 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dyslipidemia PMID:11263545|PMID:11346377|PMID:11349232|PMID:11486912|PMID:1361190|PMID:1447668|PMID:1570195|PMID:15832312|PMID:1601002|PMID:16291504|PMID:16617240|PMID:1671131|PMID:16737882|PMID:16763904|PMID:1678810|PMID:1679031|PMID:1684086|PMID:1756601|PMID:18241067|PMID:1902818|PMID:19224950|PMID:1972503|PMID:19780764|PMID:20036593|PMID:20301597|PMID:20333879|PMID:20434380|PMID:2046713|PMID:21228398|PMID:2251268|PMID:22630369|PMID:22975760|PMID:23028790|PMID:23509891|PMID:23574375|PMID:23842438|PMID:2393404|PMID:2394825|PMID:24033266|PMID:24082139|PMID:24623196|PMID:24718418|PMID:24799540|PMID:24966162|PMID:24998633|PMID:25087612|PMID:25333063|PMID:25741868|PMID:25763512|PMID:25940036|PMID:26215884|PMID:26223887|PMID:26467025|PMID:26947917|PMID:27976856|PMID:28492532|PMID:3786030|PMID:6434827|PMID:7652482|PMID:7720752|PMID:7730333|PMID:7904584|PMID:8104486|PMID:9158144|PMID:9797589 12007425 ACADM acyl-CoA dehydrogenase medium chain gene DOID:9004657 Weight Gain ISO RGD:735259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12007425 ACADM acyl-CoA dehydrogenase medium chain gene DOID:9006616 Congenital Hydrocephalus 2, with or without Brain or Eye Anomalies ISO RGD:735259 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 2 PMID:11673361|PMID:19780764|PMID:20434380|PMID:23028790|PMID:24966162|PMID:25741868|PMID:27308838|PMID:28492532 12007425 ACADM acyl-CoA dehydrogenase medium chain gene DOID:9007874 Liver Failure ISO RGD:735259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9090694 12007425 ACADM acyl-CoA dehydrogenase medium chain gene DOID:9970 obesity ISO RGD:735259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12007443 CTNNAL1 catenin alpha like 1 gene DOID:0080435 developmental and epileptic encephalopathy 37 ISO RGD:1322895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 PMID:28492532 12007443 CTNNAL1 catenin alpha like 1 gene DOID:630 genetic disease ISO RGD:1322895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12007465 XDH xanthine dehydrogenase gene DOID:0050700 cardiomyopathy treatment ISO RGD:62043 D RGD:9068941 20200609 RGD associated with Cachexia PMID:23751350|REF_RGD_ID:7247699 12007465 XDH xanthine dehydrogenase gene DOID:0050700 cardiomyopathy treatment ISO RGD:62043 D RGD:9068941 20200609 RGD associated with Insulin Resistance PMID:25889404|REF_RGD_ID:13208959 12007465 XDH xanthine dehydrogenase gene DOID:0050855 renal fibrosis treatment ISO RGD:62043 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:22350467|REF_RGD_ID:7247643 12007465 XDH xanthine dehydrogenase gene DOID:0060236 xanthinuria ISO RGD:1348452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: XDH deficiency | ClinVar Annotator: match by term: Xanthinuria PMID:11379872|PMID:16199547|PMID:17368066|PMID:17576681|PMID:18300946|PMID:18712049|PMID:20077140|PMID:20814157|PMID:21963464|PMID:22421815|PMID:22981351|PMID:23203137|PMID:24033266|PMID:25370766|PMID:25741868|PMID:25823988|PMID:26110747|PMID:26120850|PMID:26283345|PMID:26443251|PMID:26863601|PMID:27703193|PMID:28492532|PMID:28508967|PMID:30755392|PMID:32071838|PMID:9153281|PMID:9536098 12007465 XDH xanthine dehydrogenase gene DOID:0080000 muscular disease treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:9789800|REF_RGD_ID:13209133 12007465 XDH xanthine dehydrogenase gene DOID:0090065 familial cold autoinflammatory syndrome 4 ISO RGD:1348452 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 PMID:28492532 12007465 XDH xanthine dehydrogenase gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1348452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:28492532 12007465 XDH xanthine dehydrogenase gene DOID:10611 protein-losing enteropathy ISO RGD:1348452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Protein-losing enteropathy PMID:25741868|PMID:28492532|PMID:30755392 12007465 XDH xanthine dehydrogenase gene DOID:1063 interstitial nephritis ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:15933230|REF_RGD_ID:13209024 12007465 XDH xanthine dehydrogenase gene DOID:1074 kidney failure ISO RGD:62335 D RGD:9068941 20200609 RGD PMID:19667249|REF_RGD_ID:7247649 12007465 XDH xanthine dehydrogenase gene DOID:1074 kidney failure ISO RGD:62335 D RGD:9068941 20200609 RGD DNA:nonsense mutation:CDS PMID:23024809|REF_RGD_ID:7247636 12007465 XDH xanthine dehydrogenase gene DOID:1074 kidney failure treatment ISO RGD:62335 D RGD:9068941 20200609 RGD associated with Hyperuricemia PMID:23137955|REF_RGD_ID:7247633 12007465 XDH xanthine dehydrogenase gene DOID:10762 portal hypertension ISO RGD:62043 D RGD:9068941 20200609 RGD protein:alternative form:jejunum PMID:10562591|REF_RGD_ID:13209137 12007465 XDH xanthine dehydrogenase gene DOID:10763 hypertension ISO RGD:1348452 D RGD:9068941 20200609 RGD DNA:SNPs:exon, intron:47686C>T, 69901A>C, 67873A>C (p.N1109T) (human) PMID:18712049|REF_RGD_ID:7247654 12007465 XDH xanthine dehydrogenase gene DOID:10763 hypertension ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:12826072|REF_RGD_ID:13210518 12007465 XDH xanthine dehydrogenase gene DOID:10763 hypertension treatment ISO RGD:1348452 D RGD:9068941 20200609 RGD PMID:18728266|REF_RGD_ID:7247653 12007465 XDH xanthine dehydrogenase gene DOID:10763 hypertension treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:23746952|REF_RGD_ID:7247630 12007465 XDH xanthine dehydrogenase gene DOID:11054 urinary bladder cancer ISO RGD:1348452 D RGD:9068941 20200609 RGD protein:decreased activity:urinary bladder PMID:20087949|REF_RGD_ID:7247647 12007465 XDH xanthine dehydrogenase gene DOID:11111 hydronephrosis ISO RGD:1348452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydronephrosis PMID:25741868|PMID:28492532|PMID:30755392 12007465 XDH xanthine dehydrogenase gene DOID:114 heart disease ISO RGD:1348452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17217956 12007465 XDH xanthine dehydrogenase gene DOID:1227 neutropenia ISO RGD:1348452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:25741868|PMID:28492532|PMID:30755392 12007465 XDH xanthine dehydrogenase gene DOID:12849 autistic disorder ISO RGD:1348452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15205966 12007465 XDH xanthine dehydrogenase gene DOID:1287 cardiovascular system disease treatment ISO RGD:1348452 D RGD:9068941 20200609 RGD associated with Hypertensive Nephropathy PMID:23192770|REF_RGD_ID:7247631 12007465 XDH xanthine dehydrogenase gene DOID:13189 gout ISO RGD:1348452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29071757 12007465 XDH xanthine dehydrogenase gene DOID:13580 cholestasis ISO RGD:62043 D RGD:9068941 20200609 RGD protein:alternative form:liver PMID:10898233|REF_RGD_ID:13209135 12007465 XDH xanthine dehydrogenase gene DOID:1470 major depressive disorder ISO RGD:1348452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20471444 12007465 XDH xanthine dehydrogenase gene DOID:1588 thrombocytopenia ISO RGD:1348452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532|PMID:30755392 12007465 XDH xanthine dehydrogenase gene DOID:1919 Lesch-Nyhan syndrome treatment ISO RGD:1348452 D RGD:9068941 20200609 RGD PMID:17697859|REF_RGD_ID:7247657 12007465 XDH xanthine dehydrogenase gene DOID:1920 hyperuricemia ISO RGD:1348452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29071757 12007465 XDH xanthine dehydrogenase gene DOID:1920 hyperuricemia treatment ISO RGD:1348452 D RGD:9068941 20200609 RGD PMID:22436129|REF_RGD_ID:7247642 12007465 XDH xanthine dehydrogenase gene DOID:1920 hyperuricemia treatment ISO RGD:62043 D RGD:9068941 20200609 RGD protein:altered activity:kidney PMID:22690247|REF_RGD_ID:7247639 12007465 XDH xanthine dehydrogenase gene DOID:1920 hyperuricemia treatment ISO RGD:62335 D RGD:9068941 20200609 RGD PMID:22856880|PMID:26197582|REF_RGD_ID:13208955|REF_RGD_ID:7247638 12007465 XDH xanthine dehydrogenase gene DOID:2876 laryngeal squamous cell carcinoma ISO RGD:1348452 D RGD:9068941 20220610 RGD protein:increased activity:larynx PMID:8138195|REF_RGD_ID:152995273 12007465 XDH xanthine dehydrogenase gene DOID:3021 acute kidney failure treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:22571266|REF_RGD_ID:7247641 12007465 XDH xanthine dehydrogenase gene DOID:3021 acute kidney failure treatment ISO RGD:62043 D RGD:9068941 20200609 RGD associated with Reperfusion Injury PMID:19628223|REF_RGD_ID:7247650 12007465 XDH xanthine dehydrogenase gene DOID:3021 acute kidney failure treatment ISO RGD:62335 D RGD:9068941 20200609 RGD PMID:18539378|REF_RGD_ID:7247656 12007465 XDH xanthine dehydrogenase gene DOID:305 carcinoma ISO RGD:1348452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12007465 XDH xanthine dehydrogenase gene DOID:326 ischemia ISO RGD:1348452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22688000 12007465 XDH xanthine dehydrogenase gene DOID:3407 carotid artery disease ISO RGD:1348452 D RGD:9068941 20200609 RGD associated with Hypertension;DNA:SNP:intron:69901A>C (human) PMID:18712049|REF_RGD_ID:7247654 12007465 XDH xanthine dehydrogenase gene DOID:3525 middle cerebral artery infarction ISO RGD:1348452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 12007465 XDH xanthine dehydrogenase gene DOID:4989 pancreatitis ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:14728722|REF_RGD_ID:7247701 12007465 XDH xanthine dehydrogenase gene DOID:6000 congestive heart failure ISO RGD:1348452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19933411 12007465 XDH xanthine dehydrogenase gene DOID:630 genetic disease ISO RGD:1348452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12007465 XDH xanthine dehydrogenase gene DOID:684 hepatocellular carcinoma ISO RGD:62043 D RGD:9068941 20200609 RGD protein:decreased activity:tumor (rat) PMID:179860|REF_RGD_ID:5135059 12007465 XDH xanthine dehydrogenase gene DOID:784 chronic kidney disease ISO RGD:1348452 D RGD:9068941 20200609 RGD associated with Hypertension;DNA:SNP: :66292C>G (human) PMID:18712049|REF_RGD_ID:7247654 12007465 XDH xanthine dehydrogenase gene DOID:784 chronic kidney disease treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:22622455|REF_RGD_ID:7247640 12007465 XDH xanthine dehydrogenase gene DOID:8283 peritonitis ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:1443884|PMID:8367813|REF_RGD_ID:13210513|REF_RGD_ID:13210579 12007465 XDH xanthine dehydrogenase gene DOID:83 cataract ISO RGD:1348452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract PMID:25741868|PMID:28492532|PMID:30755392 12007465 XDH xanthine dehydrogenase gene DOID:83 cataract treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:25860848|REF_RGD_ID:13208958 12007465 XDH xanthine dehydrogenase gene DOID:9000039 Spinal Cord Injuries ISO RGD:62043 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:1649310|REF_RGD_ID:13209021 12007465 XDH xanthine dehydrogenase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1348452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12007465 XDH xanthine dehydrogenase gene DOID:9000656 Penetrating Wounds treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:8121173|REF_RGD_ID:13209015 12007465 XDH xanthine dehydrogenase gene DOID:9000998 Brain Injuries treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:26528358|REF_RGD_ID:13208950 12007465 XDH xanthine dehydrogenase gene DOID:9001390 Testis Reperfusion Injury treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:23769121|REF_RGD_ID:7247698 12007465 XDH xanthine dehydrogenase gene DOID:9001561 Pseudovaginal Perineoscrotal Hypospadias ISO RGD:1348452 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency PMID:18384427|PMID:28492532 12007465 XDH xanthine dehydrogenase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:62043 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:3460692|REF_RGD_ID:13210515 12007465 XDH xanthine dehydrogenase gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:9288448|REF_RGD_ID:13210506 12007465 XDH xanthine dehydrogenase gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:24768926|REF_RGD_ID:13209011 12007465 XDH xanthine dehydrogenase gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:62043 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22302365|REF_RGD_ID:7247644 12007465 XDH xanthine dehydrogenase gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:62335 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:19458127|REF_RGD_ID:7247651 12007465 XDH xanthine dehydrogenase gene DOID:9002231 Fetal Growth Retardation ISO RGD:1348452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intrauterine growth restriction PMID:25741868|PMID:28492532|PMID:30755392 12007465 XDH xanthine dehydrogenase gene DOID:9002457 Experimental Arthritis ISO RGD:62043 D RGD:9068941 20200609 RGD protein:increased expression:brain, mitochondrion PMID:25870945|REF_RGD_ID:13208957 12007465 XDH xanthine dehydrogenase gene DOID:9002549 Shock treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:1662198|REF_RGD_ID:13210509 12007465 XDH xanthine dehydrogenase gene DOID:9002906 Multiple Organ Failure ISO RGD:1348452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26968635 12007465 XDH xanthine dehydrogenase gene DOID:9002928 Colonic Neoplasms ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:3163916|REF_RGD_ID:13210519 12007465 XDH xanthine dehydrogenase gene DOID:9002955 Nerve Degeneration ISO RGD:1348452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9147382 12007465 XDH xanthine dehydrogenase gene DOID:9003420 Carbon Monoxide Poisoning ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:17433579|PMID:8248931|REF_RGD_ID:13209022|REF_RGD_ID:13210748 12007465 XDH xanthine dehydrogenase gene DOID:9003646 Arterial Thrombosis treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:26374946|REF_RGD_ID:13208952 12007465 XDH xanthine dehydrogenase gene DOID:9004009 Reperfusion Injury ISO RGD:1348452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12910483 12007465 XDH xanthine dehydrogenase gene DOID:9004009 Reperfusion Injury treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:23403765|REF_RGD_ID:7247700 12007465 XDH xanthine dehydrogenase gene DOID:9004237 Hyperoxic Lung Injury ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:2549869|REF_RGD_ID:13209004 12007465 XDH xanthine dehydrogenase gene DOID:9004283 Transplant Rejection treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:24768926|REF_RGD_ID:13209011 12007465 XDH xanthine dehydrogenase gene DOID:9004466 Xanthinuria, Type II ISO RGD:1348452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Xanthinuria type II PMID:10844591|PMID:16199547|PMID:17368066|PMID:17576681|PMID:18300946|PMID:18384427|PMID:18712049|PMID:20077140|PMID:21963464|PMID:22981351|PMID:23203137|PMID:24033266|PMID:25370766|PMID:25741868|PMID:26110747|PMID:26120850|PMID:26283345|PMID:26443251|PMID:26521682|PMID:27703193|PMID:28492532|PMID:30755392|PMID:32067994|PMID:32071838|PMID:9153281|PMID:9536098 12007465 XDH xanthine dehydrogenase gene DOID:9004484 Sepsis treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:19751566|REF_RGD_ID:7247648 12007465 XDH xanthine dehydrogenase gene DOID:9004610 Acute Lung Injury treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:9655743|REF_RGD_ID:13209002 12007465 XDH xanthine dehydrogenase gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:1348452 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic PMID:21719783|REF_RGD_ID:7247645 12007465 XDH xanthine dehydrogenase gene DOID:9004912 Hyperoxaluria ISO RGD:62043 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:26241473|REF_RGD_ID:13208954 12007465 XDH xanthine dehydrogenase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1348452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12007465 XDH xanthine dehydrogenase gene DOID:9005465 Renal Ischemia ISO RGD:62043 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:2253787|REF_RGD_ID:13209019 12007465 XDH xanthine dehydrogenase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:62043 D RGD:9068941 20200609 RGD protein:increased expression:brain, heart, kidney PMID:14532905|REF_RGD_ID:1304441 12007465 XDH xanthine dehydrogenase gene DOID:9006024 Hypotension ISO RGD:62043 D RGD:9068941 20200609 RGD protein:alternative form:ileum PMID:9895379|REF_RGD_ID:13209132 12007465 XDH xanthine dehydrogenase gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:22995295|REF_RGD_ID:7247637 12007465 XDH xanthine dehydrogenase gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:62043 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:20616412|REF_RGD_ID:7247695 12007465 XDH xanthine dehydrogenase gene DOID:9006832 Puromycin Aminonucleoside Nephrosis treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:26121320|REF_RGD_ID:13208956 12007465 XDH xanthine dehydrogenase gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:62043 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23843977|REF_RGD_ID:7247697 12007465 XDH xanthine dehydrogenase gene DOID:9007095 Pneumoperitoneum ISO RGD:62043 D RGD:9068941 20200609 RGD protein:increased activity:kidney PMID:18629585|REF_RGD_ID:7247655 12007465 XDH xanthine dehydrogenase gene DOID:9007356 Eczema ISO RGD:1348452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Eczema PMID:25741868|PMID:28492532|PMID:30755392 12007465 XDH xanthine dehydrogenase gene DOID:9007661 Dwarfism ISO RGD:1348452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:28492532|PMID:30755392 12007465 XDH xanthine dehydrogenase gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:23010742|REF_RGD_ID:13209016 12007465 XDH xanthine dehydrogenase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:3162724|REF_RGD_ID:13209131 12007465 XDH xanthine dehydrogenase gene DOID:9008241 Xanthinuria, Type I ISO RGD:1348452 D RGD:7240710 20180130 OMIM 12007465 XDH xanthine dehydrogenase gene DOID:9008410 Autoinflammation with Infantile Enterocolitis ISO RGD:1348452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis PMID:28492532 12007465 XDH xanthine dehydrogenase gene DOID:9008957 Urachal Cyst ISO RGD:1348452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Urachal cyst PMID:25741868|PMID:28492532|PMID:30755392 12007465 XDH xanthine dehydrogenase gene DOID:9477 pulmonary embolism ISO RGD:1348452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2510358 12007465 XDH xanthine dehydrogenase gene DOID:9970 obesity treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:7616299|REF_RGD_ID:13210504 12007506 ZNF512B zinc finger protein 512B gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12007506 ZNF512B zinc finger protein 512B gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1606523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12007506 ZNF512B zinc finger protein 512B gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12007506 ZNF512B zinc finger protein 512B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1606523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 12007506 ZNF512B zinc finger protein 512B gene DOID:630 genetic disease ISO RGD:1606523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12007527 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1322215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12007527 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:1322215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868|PMID:26316326|PMID:28492532 12007527 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0050795 cone dystrophy ISO RGD:1322215 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:29184169 12007527 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1322215 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12007527 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0081292 traumatic brain injury ISO RGD:1322215 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27822499 12007527 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0110005 Leber congenital amaurosis 9 ISO RGD:1322215 D RGD:7240710 20180130 OMIM 12007527 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0110005 Leber congenital amaurosis 9 ISO RGD:1322215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amaurosis congenita of Leber, type 9 | ClinVar Annotator: match by term: Leber congenital amaurosis 9 PMID:12734549|PMID:16199547|PMID:17576681|PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24791140|PMID:24830548|PMID:24940029|PMID:25412400|PMID:25741868|PMID:26018082|PMID:26047050|PMID:26103963|PMID:26316326|PMID:26464178|PMID:27032803|PMID:27422788|PMID:28041643|PMID:28369829|PMID:28453600|PMID:28492532|PMID:29074561|PMID:29178642|PMID:29184169|PMID:30004997|PMID:31054281|PMID:31877759|PMID:32037395|PMID:32150116|PMID:32165824|PMID:32533184|PMID:32581362|PMID:32865313|PMID:3691693|PMID:9536098 12007527 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0111936 immunodeficiency 14 ISO RGD:1322215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 12007527 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0112290 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis ISO RGD:1322215 D RGD:7240710 20210414 OMIM 12007527 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0112290 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis ISO RGD:1322215 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: SHILCA SYNDROME PMID:22842227|PMID:22842230|PMID:22842231|PMID:25741868|PMID:26018082|PMID:28492532|PMID:32533184 12007527 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:11446 sciatic neuropathy ISO RGD:1310996 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal root ganglion: PMID:16914673|REF_RGD_ID:13781948 12007527 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1322215 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28041643|PMID:28492532|PMID:29184169|PMID:30004997|PMID:32150116|PMID:32533184|PMID:32581362 12007527 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:4448 macular degeneration ISO RGD:1322215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842229 12007527 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:5723 optic atrophy ISO RGD:1322215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842229 12007527 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:630 genetic disease ISO RGD:1322215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12007527 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:8466 retinal degeneration ISO RGD:1322215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842230 12007527 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:8466 retinal degeneration ISO RGD:1623222 D RGD:9068941 20220825 MouseDO 12007527 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:8501 fundus dystrophy ISO RGD:1322215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:26316326|PMID:27032803|PMID:28041643|PMID:28492532|PMID:29184169|PMID:30004997|PMID:32150116|PMID:32533184|PMID:32581362|PMID:32865313 12007527 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:1322215 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27822499 12007527 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:9002498 Wallerian Degeneration ISO RGD:1322215 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27822499 12007527 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:9004910 Hereditary Macular Coloboma ISO RGD:1322215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842230 12007527 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1322215 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28041643|PMID:28492532|PMID:29184169|PMID:30004997|PMID:32150116|PMID:32533184|PMID:32581362 12007536 NAPSA napsin A aspartic peptidase gene DOID:2661 myoepithelioma ISO RGD:1347374 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12007536 NAPSA napsin A aspartic peptidase gene DOID:630 genetic disease ISO RGD:1347374 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12007553 ZWILCH zwilch kinetochore protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1602882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12007553 ZWILCH zwilch kinetochore protein gene DOID:2717 Bloom syndrome ISO RGD:1602882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12007553 ZWILCH zwilch kinetochore protein gene DOID:630 genetic disease ISO RGD:1602882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12007553 ZWILCH zwilch kinetochore protein gene DOID:9004657 Weight Gain ISO RGD:1602882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12007553 ZWILCH zwilch kinetochore protein gene DOID:9256 colorectal cancer ISO RGD:1602882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12007582 LDLRAP1 low density lipoprotein receptor adaptor protein 1 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1606809 D RGD:7240710 20180130 OMIM 12007582 LDLRAP1 low density lipoprotein receptor adaptor protein 1 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1606809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:11897284|PMID:12016260|PMID:12464675|PMID:12535754|PMID:12788851|PMID:12958143|PMID:14717060|PMID:15485476|PMID:15599766|PMID:16199547|PMID:17576681|PMID:20124734|PMID:21872251|PMID:22157599|PMID:23510778|PMID:24033266|PMID:25647241|PMID:25670367|PMID:25741868|PMID:25911074|PMID:26723464|PMID:27247956|PMID:28353356|PMID:28492532|PMID:28964736|PMID:28965616|PMID:29153781|PMID:29245109|PMID:29396260|PMID:30318064|PMID:31589614|PMID:32041611|PMID:32636080|PMID:32770674|PMID:32878475|PMID:33111339|PMID:33116287|PMID:34037665|PMID:34389451|PMID:34756585|PMID:4351242|PMID:7628519|PMID:9536098 12007582 LDLRAP1 low density lipoprotein receptor adaptor protein 1 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1606809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12007582 LDLRAP1 low density lipoprotein receptor adaptor protein 1 gene DOID:0110633 rigid spine muscular dystrophy 1 ISO RGD:1606809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy PMID:21131290|PMID:21670436|PMID:28492532 12007582 LDLRAP1 low density lipoprotein receptor adaptor protein 1 gene DOID:13810 familial hypercholesterolemia ISO RGD:1606809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:11326085|PMID:12016260|PMID:12464675|PMID:12788851|PMID:12958143|PMID:15485476|PMID:16199547|PMID:17576681|PMID:20124734|PMID:21872251|PMID:22157599|PMID:23510778|PMID:24033266|PMID:25647241|PMID:25741868|PMID:25911074|PMID:27247956|PMID:28353356|PMID:28492532|PMID:28965616|PMID:29245109|PMID:30318064|PMID:32041611|PMID:32770674|PMID:33116287|PMID:34037665|PMID:34389451|PMID:4351242|PMID:9536098 12007582 LDLRAP1 low density lipoprotein receptor adaptor protein 1 gene DOID:630 genetic disease ISO RGD:1606809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12007582 LDLRAP1 low density lipoprotein receptor adaptor protein 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:1606809 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia PMID:11326085|PMID:12464675|PMID:16199547|PMID:25741868|PMID:28492532 12007582 LDLRAP1 low density lipoprotein receptor adaptor protein 1 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:1606809 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia PMID:25741868|PMID:28492532 12007604 SIGLEC16 sialic acid binding Ig like lectin 16 gene DOID:0080600 COVID-19 ISO RGD:1346125 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12007616 TDRD12 tudor domain containing 12 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:2292096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12007616 TDRD12 tudor domain containing 12 gene DOID:630 genetic disease ISO RGD:2292096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12007647 AGXT alanine--glyoxylate aminotransferase gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:736336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12007647 AGXT alanine--glyoxylate aminotransferase gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:736336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12007647 AGXT alanine--glyoxylate aminotransferase gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:736336 D RGD:7240710 20180130 OMIM 12007647 AGXT alanine--glyoxylate aminotransferase gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:736336 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:10394939|PMID:10453743|PMID:10541294|PMID:10737993|PMID:10862087|PMID:10960483|PMID:11562405|PMID:11708860|PMID:12559847|PMID:12768081|PMID:12777626|PMID:12899834|PMID:1301173|PMID:1349575|PMID:15110324|PMID:15253729|PMID:15327387|PMID:15356974|PMID:15365967|PMID:15464418|PMID:15802217|PMID:15840016|PMID:15849466|PMID:15961945|PMID:15961946|PMID:15963748|PMID:16199547|PMID:16208537|PMID:16850020|PMID:16912707|PMID:16971151|PMID:1703535|PMID:17110443|PMID:17460142|PMID:17495019|PMID:17576681|PMID:17696873|PMID:18282470|PMID:18448374|PMID:18782763|PMID:1879825|PMID:18810341|PMID:18985333|PMID:19155213|PMID:19479957|PMID:19571789|PMID:1961759|PMID:20016466|PMID:20133649|PMID:20301460|PMID:2039493|PMID:20544097|PMID:20549407|PMID:20564000|PMID:20573805|PMID:20713123|PMID:21176891|PMID:21705122|PMID:21850686|PMID:22018727|PMID:22529745|PMID:22685354|PMID:22781098|PMID:22821680|PMID:22844106|PMID:22923379|PMID:23229545|PMID:23430879|PMID:23439734|PMID:23551880|PMID:23589421|PMID:23810941|PMID:23861508|PMID:24012869|PMID:24033266|PMID:24055001|PMID:24205397|PMID:24385516|PMID:24718375|PMID:24934730|PMID:24988064|PMID:24990153|PMID:25013605|PMID:25296721|PMID:25363903|PMID:25620715|PMID:25629080|PMID:25644115|PMID:25741868|PMID:26149463|PMID:26252291|PMID:26383609|PMID:26759051|PMID:27135212|PMID:27512303|PMID:27568336|PMID:27644547|PMID:27659337|PMID:27915025|PMID:27935012|PMID:28492532|PMID:28553045|PMID:28619084|PMID:28660284|PMID:28893421|PMID:28904440|PMID:28906061|PMID:29110180|PMID:29127259|PMID:29244539|PMID:29456205|PMID:29590070|PMID:29959618|PMID:30076350|PMID:30341509|PMID:30488096|PMID:30541997|PMID:30655312|PMID:30787879|PMID:31078535|PMID:31215412|PMID:31589614|PMID:31715429|PMID:32556641|PMID:32608139|PMID:32792227|PMID:33408043|PMID:33691640|PMID:33721035|PMID:34031707|PMID:34082749|PMID:35149915|PMID:35661454|PMID:35695965|PMID:7967498|PMID:8101040|PMID:9002528|PMID:9136629|PMID:9192270|PMID:9536098|PMID:9604803 12007647 AGXT alanine--glyoxylate aminotransferase gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:736336 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12007647 AGXT alanine--glyoxylate aminotransferase gene DOID:1059 intellectual disability ISO RGD:736336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12007647 AGXT alanine--glyoxylate aminotransferase gene DOID:1184 nephrotic syndrome ISO RGD:736336 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:10453743|PMID:15327387|PMID:15464418|PMID:17495019|PMID:19479957|PMID:25629080|PMID:25741868|PMID:27135212|PMID:28492532|PMID:28619084|PMID:29127259|PMID:30655312 12007647 AGXT alanine--glyoxylate aminotransferase gene DOID:12679 nephrocalcinosis ISO RGD:736336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:10541294|PMID:10960483|PMID:12777626|PMID:15327387|PMID:15802217|PMID:15961946|PMID:16912707|PMID:17460142|PMID:17495019|PMID:19155213|PMID:20133649|PMID:23229545|PMID:24012869|PMID:24055001|PMID:24718375|PMID:24988064|PMID:25629080|PMID:25741868|PMID:28492532|PMID:28893421|PMID:31078535|PMID:8101040|PMID:9136629|PMID:9192270 12007647 AGXT alanine--glyoxylate aminotransferase gene DOID:2977 primary hyperoxaluria ISO RGD:736336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:10453743|PMID:10541294|PMID:10862087|PMID:10960483|PMID:11562405|PMID:11708860|PMID:12768081|PMID:12777626|PMID:15110324|PMID:15253729|PMID:15327387|PMID:15356974|PMID:15464418|PMID:15802217|PMID:15840016|PMID:15961945|PMID:15961946|PMID:15963748|PMID:16199547|PMID:16208537|PMID:16850020|PMID:16912707|PMID:16971151|PMID:1703535|PMID:17110443|PMID:17460142|PMID:17495019|PMID:18282470|PMID:18782763|PMID:18985333|PMID:19155213|PMID:19479957|PMID:19571789|PMID:1961759|PMID:20016466|PMID:20133649|PMID:20301460|PMID:2039493|PMID:20564000|PMID:20713123|PMID:22018727|PMID:22529745|PMID:22821680|PMID:22844106|PMID:22923379|PMID:23229545|PMID:23551880|PMID:23810941|PMID:24012869|PMID:24033266|PMID:24205397|PMID:24385516|PMID:24988064|PMID:24990153|PMID:25296721|PMID:25363903|PMID:25629080|PMID:25644115|PMID:25741868|PMID:26383609|PMID:26759051|PMID:27135212|PMID:27512303|PMID:27915025|PMID:27935012|PMID:28492532|PMID:28619084|PMID:28893421|PMID:28904440|PMID:29127259|PMID:30341509|PMID:30488096|PMID:30541997|PMID:30655312|PMID:31078535|PMID:31589614|PMID:32556641|PMID:32792227|PMID:33691640|PMID:33721035|PMID:34031707|PMID:35149915|PMID:8101040|PMID:9136629|PMID:9192270|PMID:9604803 12007647 AGXT alanine--glyoxylate aminotransferase gene DOID:630 genetic disease ISO RGD:736336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12007647 AGXT alanine--glyoxylate aminotransferase gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:736336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12007647 AGXT alanine--glyoxylate aminotransferase gene DOID:9002785 Vitamin B Deficiency ISO RGD:2073 D RGD:9068941 20200609 RGD PMID:12544342|REF_RGD_ID:1599455 12007647 AGXT alanine--glyoxylate aminotransferase gene DOID:9004912 Hyperoxaluria ISO RGD:736336 D RGD:9068941 20200609 RGD DNA:mutation:cds: PMID:2039493|REF_RGD_ID:1300367 12007647 AGXT alanine--glyoxylate aminotransferase gene DOID:9004912 Hyperoxaluria ISO RGD:736336 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:8101040|REF_RGD_ID:1302510 12007647 AGXT alanine--glyoxylate aminotransferase gene DOID:9008457 Thrombocytopenia 7 ISO RGD:12409610 D RGD:9068941 20210604 OMIA Hyperoxaluria, primary, type I (Oxalosis I) PMID:1672096|PMID:22486513|PMID:2394849 12007667 ENC1 ectodermal-neural cortex 1 gene DOID:630 genetic disease ISO RGD:1352868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12007667 ENC1 ectodermal-neural cortex 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12007667 ENC1 ectodermal-neural cortex 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12007674 ERMAP erythroblast membrane associated protein (Scianna blood group) gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1320643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12007674 ERMAP erythroblast membrane associated protein (Scianna blood group) gene DOID:1098 fetal erythroblastosis ISO RGD:1320643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Radin blood group PMID:12393480 12007674 ERMAP erythroblast membrane associated protein (Scianna blood group) gene DOID:630 genetic disease ISO RGD:1320643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12007695 LCA5L lebercilin LCA5 like gene DOID:12849 autistic disorder ISO RGD:1345568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12007695 LCA5L lebercilin LCA5 like gene DOID:630 genetic disease ISO RGD:1345568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:1342972 D RGD:9068941 20210820 RGD DNA:mutations PMID:16676365|REF_RGD_ID:126925209 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0060071 pre-malignant neoplasm ISO RGD:1342972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0070113 Niemann-Pick disease type C1 treatment ISO RGD:1332211 D RGD:9068941 20200609 RGD PMID:18591368|REF_RGD_ID:10047095 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1342972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0080006 bone development disease ISO RGD:1342972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28288113 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0080630 B-lymphoblastic leukemia/lymphoma treatment ISO RGD:1342972 D RGD:9068941 20200609 RGD PMID:21481795|REF_RGD_ID:11038814 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:1342972 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:10988075|PMID:11423618|PMID:11567109|PMID:11569495|PMID:11853795|PMID:11861307|PMID:11964322|PMID:12130516|PMID:12399961|PMID:12576318|PMID:12623848|PMID:12663457|PMID:12783380|PMID:14559829|PMID:14745431|PMID:15194504|PMID:15256422|PMID:15381060|PMID:15510211|PMID:17008892|PMID:17114651|PMID:17189410|PMID:18223278|PMID:18354488|PMID:18615627|PMID:18757400|PMID:18828913|PMID:19164531|PMID:19264234|PMID:19466505|PMID:19557636|PMID:19652056|PMID:19768693|PMID:19811824|PMID:20010464|PMID:20367437|PMID:20512393|PMID:20537386|PMID:20557306|PMID:20607847|PMID:20697894|PMID:20702476|PMID:20963643|PMID:21221851|PMID:21489624|PMID:21505103|PMID:21509757|PMID:21562040|PMID:21605905|PMID:21762985|PMID:21872826|PMID:21888027|PMID:21895409|PMID:22210874|PMID:22306673|PMID:22772060|PMID:22870928|PMID:22912393|PMID:23355941|PMID:23540562|PMID:23575252|PMID:23676790|PMID:24109527|PMID:24236021|PMID:24456693|PMID:25152116|PMID:25157968|PMID:25686603|PMID:25741868|PMID:28492532|PMID:31775759 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1342972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0112203 developmental and epileptic encephalopathy 67 ISO RGD:1342972 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 67 PMID:25741868 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:10534 stomach cancer ISO RGD:1342972 D RGD:9068941 20210528 RGD human cells in mouse model; associated with mental depression; protein:increased expression, increased phosphorylation:stomach (human) PMID:31396300|REF_RGD_ID:126908003 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:10907 microcephaly ISO RGD:1342972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:33223528 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:11476 osteoporosis ISO RGD:1332211 D RGD:9068941 20200609 RGD PMID:10700189|REF_RGD_ID:10047094 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:14330 Parkinson's disease ISO RGD:1332211 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:24412932|REF_RGD_ID:8693592 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:14330 Parkinson's disease ISO RGD:1342972 D RGD:9068941 20200609 RGD protein:increased phosphorylation:striatum: PMID:20823226|REF_RGD_ID:8693409 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:14330 Parkinson's disease ISO RGD:1584969 D RGD:9068941 20200609 RGD PMID:24412932|REF_RGD_ID:8693592 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:14504 Niemann-Pick disease ISO RGD:1332211 D RGD:9068941 20200609 RGD protein:increased expression:cerebellum: PMID:20883783|REF_RGD_ID:8693571 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:1596 depressive disorder ISO RGD:1332211 D RGD:9068941 20210507 RGD protein:increased expression, increased phosphorylation:hippocampus (mouse) PMID:31396300|REF_RGD_ID:126908003 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:1682 congenital heart disease ISO RGD:1342972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital heart disease PMID:25741868|PMID:28288113|PMID:28492532|PMID:32643838 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:299 adenocarcinoma ISO RGD:1342972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1342972 D RGD:9068941 20210820 RGD human cells in mouse model PMID:26758680|REF_RGD_ID:126925226 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:1342972 D RGD:9068941 20210521 RGD DNA:SNP:3'utr: (rs4740363) (human) PMID:21472143|REF_RGD_ID:126925218 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:5199 ureteral obstruction ISO RGD:1584969 D RGD:9068941 20200609 RGD protein:increased activity:kidney: PMID:15629889|REF_RGD_ID:8693572 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1342972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:11569495|PMID:11853795|PMID:12399961|PMID:12623848|PMID:14745431|PMID:19164531|PMID:19264234|PMID:19811824|PMID:21489624|PMID:23676790|PMID:24236021|PMID:25157968|PMID:31775759 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:1342972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24728327|PMID:28492532 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:684 hepatocellular carcinoma ISO RGD:1332211 D RGD:9068941 20210820 RGD PMID:32171747|REF_RGD_ID:126907997 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:8552 chronic myeloid leukemia ISO RGD:1342972 D RGD:7240710 20190821 OMIM 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:8552 chronic myeloid leukemia ISO RGD:1342972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ABL1-Related Disorder | ClinVar Annotator: match by term: Leukemia, Philadelphia chromosome-positive, resistant to imatinib PMID:10988075|PMID:11423618|PMID:11569495|PMID:11853795|PMID:11861307|PMID:11964322|PMID:12130516|PMID:12399961|PMID:12623848|PMID:12663457|PMID:14559829|PMID:14745431|PMID:15194504|PMID:15256422|PMID:15381060|PMID:18615627|PMID:19466505|PMID:19652056|PMID:20367437|PMID:20512393|PMID:20537386|PMID:20697894|PMID:20963643|PMID:21505103|PMID:21562040|PMID:21762985|PMID:21872826|PMID:21895409|PMID:22306673|PMID:22772060|PMID:22870928|PMID:23355941|PMID:23540562|PMID:23676790|PMID:24236021|PMID:24456693|PMID:25157968|PMID:25686603|PMID:25741868|PMID:28492532|PMID:33783941 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:1342972 D RGD:9068941 20200609 RGD PMID:3021820|REF_RGD_ID:1598673 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:1342972 D RGD:9068941 20200609 RGD PMID:21481795|REF_RGD_ID:11038814 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:1342972 D RGD:9068941 20200609 RGD DNA:missense mutations: :multiple PMID:23289634|REF_RGD_ID:11038807 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9000117 Esophageal Neoplasms ISO RGD:1342972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9001276 Failure to Thrive ISO RGD:1342972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28288113 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9002170 Experimental Neoplasms ISO RGD:1342972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878872 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features ISO RGD:1342972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features PMID:10988075|PMID:11423618|PMID:11853795|PMID:11861307|PMID:11964322|PMID:12130516|PMID:12399961|PMID:12623848|PMID:14559829|PMID:14745431|PMID:15194504|PMID:15256422|PMID:15381060|PMID:18615627|PMID:19466505|PMID:19652056|PMID:20367437|PMID:20512393|PMID:20537386|PMID:20697894|PMID:20963643|PMID:21505103|PMID:21562040|PMID:21762985|PMID:21872826|PMID:21895409|PMID:22306673|PMID:22772060|PMID:22870928|PMID:23355941|PMID:23540562|PMID:23676790|PMID:24236021|PMID:24456693|PMID:25157968|PMID:25686603|PMID:25741868 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9002867 Myeloid Leukemia, Chronic-Phase ISO RGD:1342972 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:11559572|REF_RGD_ID:11038811 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9002867 Myeloid Leukemia, Chronic-Phase disease_progression ISO RGD:1342972 D RGD:9068941 20200609 RGD PMID:19344397|REF_RGD_ID:11038809 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9004222 CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME ISO RGD:1342972 D RGD:7240710 20200910 OMIM 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9004222 CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME ISO RGD:1342972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital heart defects and skeletal malformations syndrome PMID:25741868|PMID:28288113|PMID:28492532|PMID:32643838|PMID:33223528|PMID:33783941 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9005004 Musculoskeletal Abnormalities ISO RGD:1342972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28288113 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9007188 Liver Neoplasms ISO RGD:1342972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9007702 Carcinogenesis ISO RGD:1342972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23968727 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9008023 Memory Disorders treatment ISO RGD:1332211 D RGD:9068941 20200609 RGD PMID:18559370|REF_RGD_ID:8693418 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9008023 Memory Disorders treatment ISO RGD:1584969 D RGD:9068941 20200609 RGD PMID:18559370|REF_RGD_ID:8693418 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:1342972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20234815 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9119 acute myeloid leukemia ISO RGD:1342972 D RGD:9068941 20200609 RGD DNA:translocation: : PMID:12161353|REF_RGD_ID:10450603 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9256 colorectal cancer ameliorates ISO RGD:1342972 D RGD:9068941 20210507 RGD human gene in mouse model PMID:32850446|REF_RGD_ID:126908002 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9256 colorectal cancer disease_progression ISO RGD:1342972 D RGD:9068941 20210507 RGD mRNA, protein:increased expression:colorectum (human) PMID:32850446|REF_RGD_ID:126908002 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9273 citrullinemia ISO RGD:1342972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Citrullinemia PMID:28492532 12007726 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1342972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11984797|PMID:21898527 12007726 Abl1 c-abl oncogene 1, non-receptor tyrosine kinase gene DOID:10652 Alzheimer's disease ISO RGD:1332211 D RGD:9068941 20200609 RGD PMID:19700222|REF_RGD_ID:8693570 12007744 PLAC8L1 PLAC8 like 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1342779 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12007744 PLAC8L1 PLAC8 like 1 gene DOID:630 genetic disease ISO RGD:1342779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12007744 PLAC8L1 PLAC8 like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12007744 PLAC8L1 PLAC8 like 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1342779 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12007752 MCM6 minichromosome maintenance complex component 6 gene DOID:0060591 WHIM syndrome 1 ISO RGD:1352854 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:28492532 12007752 MCM6 minichromosome maintenance complex component 6 gene DOID:630 genetic disease ISO RGD:1352854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12007752 MCM6 minichromosome maintenance complex component 6 gene DOID:9006147 Lactose Intolerance, Adult Type ISO RGD:1352854 D RGD:7240710 20180130 OMIM 12007752 MCM6 minichromosome maintenance complex component 6 gene DOID:9006147 Lactose Intolerance, Adult Type ISO RGD:1352854 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ADULT LACTASE DEFICIENCY | ClinVar Annotator: match by term: Lactose intolerance, adult type PMID:25741868 12007773 RNF121 ring finger protein 121 gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1317294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 12007773 RNF121 ring finger protein 121 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1317294 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12007773 RNF121 ring finger protein 121 gene DOID:1059 intellectual disability ISO RGD:1317294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12007773 RNF121 ring finger protein 121 gene DOID:630 genetic disease ISO RGD:1317294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12007788 CCNG1 cyclin G1 gene DOID:0050933 ovarian serous carcinoma severity ISO RGD:735830 D RGD:9068941 20220303 RGD mRNA, protein:increased expression:ovary (human) PMID:30565428|REF_RGD_ID:151361205 12007788 CCNG1 cyclin G1 gene DOID:0081292 traumatic brain injury treatment ISO RGD:2295 D RGD:9068941 20220218 RGD PMID:18612315|PMID:24398934|REF_RGD_ID:151356934|REF_RGD_ID:151356935 12007788 CCNG1 cyclin G1 gene DOID:10652 Alzheimer's disease ISO RGD:735830 D RGD:9068941 20200609 RGD protein:increased expression:brain, neuron PMID:12214116|REF_RGD_ID:2316025 12007788 CCNG1 cyclin G1 gene DOID:11054 urinary bladder cancer ISO RGD:735830 D RGD:9068941 20220303 RGD mRNA:decreased expression:bladder (human) PMID:27982046|REF_RGD_ID:151361200 12007788 CCNG1 cyclin G1 gene DOID:1115 sarcoma ISO RGD:735830 D RGD:9068941 20220303 RGD mRNA:decreased expression: (human) PMID:27982046|REF_RGD_ID:151361200 12007788 CCNG1 cyclin G1 gene DOID:1115 sarcoma treatment ISO RGD:735830 D RGD:9068941 20220303 RGD PMID:19532136|REF_RGD_ID:151361204 12007788 CCNG1 cyclin G1 gene DOID:11166 papillomavirus infectious disease disease_progression ISO RGD:735830 D RGD:9068941 20220225 RGD associated with cervix carcinoma; protein:increased expression:cervix (human) PMID:16845792|REF_RGD_ID:2316022 12007788 CCNG1 cyclin G1 gene DOID:11934 head and neck cancer ISO RGD:735830 D RGD:9068941 20220303 RGD mRNA:decreased expression:head and neck (human) PMID:27982046|REF_RGD_ID:151361200 12007788 CCNG1 cyclin G1 gene DOID:127 leiomyoma ISO RGD:735830 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:uterus, myometrium PMID:12634633|REF_RGD_ID:2316023 12007788 CCNG1 cyclin G1 gene DOID:1324 lung cancer treatment ISO RGD:735830 D RGD:9068941 20220224 RGD human cells in mouse model PMID:25472877|REF_RGD_ID:151361106 12007788 CCNG1 cyclin G1 gene DOID:1612 breast cancer treatment ISO RGD:2295 D RGD:9068941 20220217 RGD PMID:23791885|REF_RGD_ID:151356928 12007788 CCNG1 cyclin G1 gene DOID:1793 pancreatic cancer treatment ISO RGD:735830 D RGD:9068941 20220224 RGD human cells in mouse model PMID:11177556|REF_RGD_ID:151361109 12007788 CCNG1 cyclin G1 gene DOID:2152 ovary epithelial cancer disease_progression ISO RGD:735830 D RGD:9068941 20220224 RGD protein:increased expression:ovary (human) PMID:25981880|REF_RGD_ID:11055572 12007788 CCNG1 cyclin G1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:5552939 D RGD:9068941 20220224 RGD human cells in mouse model PMID:33760168|REF_RGD_ID:151356990 12007788 CCNG1 cyclin G1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:735830 D RGD:9068941 20220224 RGD DNA:amplification:ovary (human) PMID:22056875|REF_RGD_ID:151361152 12007788 CCNG1 cyclin G1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:735830 D RGD:9068941 20220224 RGD mRNA:increased expression:ovary (human) PMID:32271408|REF_RGD_ID:151356992 12007788 CCNG1 cyclin G1 gene DOID:3356 localized osteosarcoma treatment ISO RGD:735830 D RGD:9068941 20220224 RGD human cells in mouse model PMID:9322869|REF_RGD_ID:151356969 12007788 CCNG1 cyclin G1 gene DOID:3458 breast adenocarcinoma ISO RGD:735831 D RGD:9068941 20220303 RGD mRNA, protein:altered expression:mammary (mouse) PMID:11146550|REF_RGD_ID:2315939 12007788 CCNG1 cyclin G1 gene DOID:4001 ovarian carcinoma ISO RGD:1349177 D RGD:9068941 20220224 RGD human cells in mouse model PMID:26872615|REF_RGD_ID:11555725 12007788 CCNG1 cyclin G1 gene DOID:4001 ovarian carcinoma ISO RGD:735830 D RGD:9068941 20220224 RGD mRNA:increased expression:ovary (human) PMID:26872615|REF_RGD_ID:11555725 12007788 CCNG1 cyclin G1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12007788 CCNG1 cyclin G1 gene DOID:630 genetic disease ISO RGD:735830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12007788 CCNG1 cyclin G1 gene DOID:684 hepatocellular carcinoma ISO RGD:620761 D RGD:9068941 20220217 RGD PMID:25431954|REF_RGD_ID:151356922 12007788 CCNG1 cyclin G1 gene DOID:684 hepatocellular carcinoma ISO RGD:735830 D RGD:9068941 20220224 RGD human cells in mouse model PMID:23804702|REF_RGD_ID:151356967 12007788 CCNG1 cyclin G1 gene DOID:684 hepatocellular carcinoma ISO RGD:735831 D RGD:9068941 20220303 RGD PMID:27982046|REF_RGD_ID:151361200 12007788 CCNG1 cyclin G1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735830 D RGD:9068941 20220224 RGD protein:increased expression:liver (human) PMID:23804702|REF_RGD_ID:151356967 12007788 CCNG1 cyclin G1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:735830 D RGD:9068941 20220224 RGD protein:increased expression:liver (human) PMID:19584283|REF_RGD_ID:151356981 12007788 CCNG1 cyclin G1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:735830 D RGD:9068941 20220303 RGD protein:decreased expression:liver (human) PMID:22835824|REF_RGD_ID:151361198 12007788 CCNG1 cyclin G1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2295 D RGD:9068941 20220218 RGD PMID:24034575|PMID:26345095|REF_RGD_ID:151356932|REF_RGD_ID:151356933 12007788 CCNG1 cyclin G1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:735830 D RGD:9068941 20220224 RGD human cells in mouse model PMID:33543294|REF_RGD_ID:151356970 12007788 CCNG1 cyclin G1 gene DOID:767 muscular atrophy ISO RGD:2295 D RGD:9068941 20220224 RGD associated with microgravity; mRNA:increased expression:gastrocnemius (rat) PMID:14638460|REF_RGD_ID:151361116 12007788 CCNG1 cyclin G1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:735830 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:16845792|REF_RGD_ID:2316022 12007788 CCNG1 cyclin G1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12007788 CCNG1 cyclin G1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:735831 D RGD:9068941 20220303 RGD PMID:27982046|REF_RGD_ID:151361200 12007788 CCNG1 cyclin G1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:735830 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:16845792|REF_RGD_ID:2316022 12007788 CCNG1 cyclin G1 gene DOID:9004009 Reperfusion Injury ISO RGD:2295 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:9698156|REF_RGD_ID:2316027 12007788 CCNG1 cyclin G1 gene DOID:9005172 Lung Neoplasms ISO RGD:735830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16289808 12007788 CCNG1 cyclin G1 gene DOID:9006618 Liver Metastasis treatment ISO RGD:735830 D RGD:9068941 20220224 RGD human cells in mouse model PMID:10910035|REF_RGD_ID:151356987 12007788 CCNG1 cyclin G1 gene DOID:9009121 lung metastasis ISO RGD:735831 D RGD:9068941 20220303 RGD PMID:30565428|REF_RGD_ID:151361205 12007799 GPR39 G protein-coupled receptor 39 gene DOID:630 genetic disease ISO RGD:1315539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12007839 PPEF2 protein phosphatase with EF-hand domain 2 gene DOID:630 genetic disease ISO RGD:1316080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12007839 PPEF2 protein phosphatase with EF-hand domain 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1316080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 12007839 PPEF2 protein phosphatase with EF-hand domain 2 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1316080 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12007860 CCR10 C-C motif chemokine receptor 10 gene DOID:1824 status epilepticus ISO RGD:1606584 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17181556 12007860 CCR10 C-C motif chemokine receptor 10 gene DOID:630 genetic disease ISO RGD:1606584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:0050589 inflammatory bowel disease ISO RGD:10928 D RGD:9068941 20220825 MouseDO 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:0060071 pre-malignant neoplasm ISO RGD:3123 D RGD:9068941 20200609 RGD protein:decreased expression:colon PMID:17847023|REF_RGD_ID:7349371 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:0060180 colitis ISO RGD:10785 D RGD:9068941 20200609 RGD protein:decreased sulfation:descending colon PMID:12395902|REF_RGD_ID:7349356 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:0060180 colitis ISO RGD:3123 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon PMID:19220658|REF_RGD_ID:2324675 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:0060180 colitis treatment ISO RGD:3123 D RGD:9068941 20200609 RGD PMID:21949848|PMID:23395625|REF_RGD_ID:7349360|REF_RGD_ID:7349385 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:0080178 mucositis ISO RGD:3123 D RGD:9068941 20200609 RGD protein:decreased expression:intestine PMID:18998135|REF_RGD_ID:2303603 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:0080773 delta beta-thalassemia ISO RGD:735987 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:0111969 immunodeficiency 39 ISO RGD:735987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:11204 allergic conjunctivitis severity ISO RGD:735987 D RGD:9068941 20200609 RGD PMID:17177679|REF_RGD_ID:7349351 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:12236 primary biliary cholangitis ISO RGD:735987 D RGD:9068941 20200609 RGD PMID:18507686|REF_RGD_ID:2324885 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:1324 lung cancer ISO RGD:735987 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:1485 cystic fibrosis ISO RGD:735987 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal mucosa (human) PMID:9155717|REF_RGD_ID:5131426 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:1679 cystitis ISO RGD:735987 D RGD:9068941 20200609 RGD PMID:17659847|REF_RGD_ID:7349345 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:1984 rectal benign neoplasm ISO RGD:735987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12468628 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:219 colon cancer ISO RGD:3123 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon PMID:20459814|REF_RGD_ID:7349368 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:219 colon cancer ISO RGD:3123 D RGD:9068941 20200609 RGD protein:decreased expression:colon PMID:17847023|REF_RGD_ID:7349371 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:2841 asthma ISO RGD:10928 D RGD:9068941 20200609 RGD PMID:14594655|REF_RGD_ID:7349354 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:2841 asthma ISO RGD:735987 D RGD:9068941 20200609 RGD associated with hypersensitivity PMID:11062147|REF_RGD_ID:5131178 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:299 adenocarcinoma ISO RGD:735987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12468628 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:3030 mucinous adenocarcinoma ISO RGD:735987 D RGD:9068941 20200609 RGD associated Pancreatic Neoplasms;protein:increased expression:pancreas PMID:12717243|REF_RGD_ID:2317985 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:3030 mucinous adenocarcinoma ISO RGD:735987 D RGD:9068941 20200609 RGD associated with pancreatic neoplasms;protein:increased expression:pancreas PMID:17708554|REF_RGD_ID:2324887 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:3030 mucinous adenocarcinoma ISO RGD:735987 D RGD:9068941 20200609 RGD associated with cholangiocarcinoma;mRNA,protein:increased expression:bile duct PMID:15048136|REF_RGD_ID:2324868 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:3030 mucinous adenocarcinoma ISO RGD:735987 D RGD:9068941 20200609 RGD associated with pancreatic diseases;protein:increased expression:pancreas PMID:19954814|REF_RGD_ID:2324889 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:326 ischemia ISO RGD:3123 D RGD:9068941 20200609 RGD protein:decreased expression:jejunum PMID:22768227|REF_RGD_ID:7349363 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:4947 cholangiocarcinoma ISO RGD:735987 D RGD:9068941 20200609 RGD mRNA:decreased expression:bile duct PMID:11680592|REF_RGD_ID:2324948 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:5082 liver cirrhosis ISO RGD:3123 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum PMID:22172882|REF_RGD_ID:7349362 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:5295 intestinal disease treatment ISO RGD:3123 D RGD:9068941 20200609 RGD PMID:22293291|REF_RGD_ID:7349361 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:5409 lung small cell carcinoma ISO RGD:735987 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:552 pneumonia treatment ISO RGD:3123 D RGD:9068941 20200609 RGD PMID:23590300|REF_RGD_ID:7349359 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:657 adenoma ISO RGD:735987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12468628 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:8577 ulcerative colitis ISO RGD:3123 D RGD:9068941 20200609 RGD mRNA:altered expression: : PMID:12870797|REF_RGD_ID:2324685 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:3123 D RGD:9068941 20211015 RGD mRNA:decreased expression:ileum PMID:20501441|REF_RGD_ID:2324672 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:9000011 Gallbladder Neoplasms ISO RGD:735987 D RGD:9068941 20200609 RGD protein:increased expression:gallbladder PMID:15260848|REF_RGD_ID:2324651 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:9000645 Rotavirus Infections ISO RGD:10928 D RGD:9068941 20200609 RGD PMID:15882887|REF_RGD_ID:7349352 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:9002231 Fetal Growth Retardation ISO RGD:3123 D RGD:9068941 20200609 RGD PMID:19287349|REF_RGD_ID:7349369 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:9002245 Intestinal Neoplasms ISO RGD:735987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12468628 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:9002953 Escherichia Coli Infections ISO RGD:3123 D RGD:9068941 20200609 RGD PMID:23798529|REF_RGD_ID:7349358 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:9002992 Nematode Infections ISO RGD:10928 D RGD:9068941 20200609 RGD PMID:20138044|REF_RGD_ID:7349349 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:9002992 Nematode Infections ISO RGD:3123 D RGD:9068941 20200609 RGD mRNA:increased expression:intestine PMID:16689826|REF_RGD_ID:2303607 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:735987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:9004283 Transplant Rejection ISO RGD:3123 D RGD:9068941 20200609 RGD PMID:12717211|REF_RGD_ID:7349372 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:9005372 Inflammation ISO RGD:3123 D RGD:9068941 20200609 RGD protein:altered expression:colon PMID:15980276|REF_RGD_ID:8693640 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:9005930 Endotoxemia ISO RGD:3123 D RGD:9068941 20200609 RGD PMID:19099858|REF_RGD_ID:7349370 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:9006970 Cestode Infections ISO RGD:3123 D RGD:9068941 20200609 RGD PMID:17187651|REF_RGD_ID:7349350 12007865 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:9206 Barrett's esophagus disease_progression ISO RGD:735987 D RGD:9068941 20200609 RGD PMID:23011828|REF_RGD_ID:7349348 12007918 RFC2 replication factor C subunit 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1348076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 12007918 RFC2 replication factor C subunit 2 gene DOID:10923 sickle cell anemia ISO RGD:1348076 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 12007918 RFC2 replication factor C subunit 2 gene DOID:12849 autistic disorder ISO RGD:1348076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12007918 RFC2 replication factor C subunit 2 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1348076 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 12007918 RFC2 replication factor C subunit 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12007918 RFC2 replication factor C subunit 2 gene DOID:5419 schizophrenia ISO RGD:1348076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12007918 RFC2 replication factor C subunit 2 gene DOID:630 genetic disease ISO RGD:1348076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12007918 RFC2 replication factor C subunit 2 gene DOID:8445 intestinal volvulus ISO RGD:1348076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12007918 RFC2 replication factor C subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12007918 RFC2 replication factor C subunit 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1348076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12007936 COPB1 COPI coat complex subunit beta 1 gene DOID:0080006 bone development disease ISO RGD:731922 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia 12007936 COPB1 COPI coat complex subunit beta 1 gene DOID:1059 intellectual disability ISO RGD:731922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12007936 COPB1 COPI coat complex subunit beta 1 gene DOID:630 genetic disease ISO RGD:731922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12007936 COPB1 COPI coat complex subunit beta 1 gene DOID:83 cataract ISO RGD:731922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract PMID:33632302 12007936 COPB1 COPI coat complex subunit beta 1 gene DOID:9005123 Baralle-Macken Syndrome ISO RGD:731922 D RGD:7240710 20210414 OMIM 12007936 COPB1 COPI coat complex subunit beta 1 gene DOID:9005123 Baralle-Macken Syndrome ISO RGD:731922 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Baralle-Macken syndrome PMID:25741868|PMID:33632302 12007966 COQ6 coenzyme Q6, monooxygenase gene DOID:0070243 primary coenzyme Q10 deficiency 6 ISO RGD:1322454 D RGD:7240710 20180130 OMIM 12007966 COQ6 coenzyme Q6, monooxygenase gene DOID:0070243 primary coenzyme Q10 deficiency 6 ISO RGD:1322454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial steroid-resistant nephrotic syndrome with sensorineural deafness PMID:21540551|PMID:24140869|PMID:25741868|PMID:28044327|PMID:28117207|PMID:28173653|PMID:28492532|PMID:30232548|PMID:30584653|PMID:30682496|PMID:31937884 12007966 COQ6 coenzyme Q6, monooxygenase gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1322454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 12007966 COQ6 coenzyme Q6, monooxygenase gene DOID:1059 intellectual disability ISO RGD:1322454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12007966 COQ6 coenzyme Q6, monooxygenase gene DOID:630 genetic disease ISO RGD:1322454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12007987 ST6GAL2 ST6 beta-galactoside alpha-2,6-sialyltransferase 2 gene DOID:5419 schizophrenia ISO RGD:1348221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12007987 ST6GAL2 ST6 beta-galactoside alpha-2,6-sialyltransferase 2 gene DOID:630 genetic disease ISO RGD:1348221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008026 GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1349486 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:25741868|PMID:29422393 12008026 GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:0050741 alcohol dependence ISO RGD:1349486 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Alcohol dependence 12008026 GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1349486 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:29422393 12008026 GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:0112214 developmental and epileptic encephalopathy 78 ISO RGD:1349486 D RGD:7240710 20230517 OMIM 12008026 GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:0112214 developmental and epileptic encephalopathy 78 ISO RGD:1349486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 78 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78 PMID:25741868|PMID:28492532|PMID:29422393|PMID:29961870|PMID:31032849 12008026 GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:12849 autistic disorder ISO RGD:1349486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18821008 12008026 GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:12849 autistic disorder ISO RGD:1349486 D RGD:9068941 20200609 RGD DNA:SNP: : PMID:16080114|REF_RGD_ID:6480256 12008026 GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:1574 alcohol use disorder ISO RGD:1349486 D RGD:7240710 20230517 OMIM 12008026 GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:1574 alcohol use disorder ISO RGD:1349486 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Alcohol dependence 12008026 GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:1574 alcohol use disorder susceptibility ISO RGD:1349486 D RGD:9068941 20230518 RGD DNA:SNPs:multiple: PMID:15024690|REF_RGD_ID:6480257 12008026 GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:2030 anxiety disorder ISO RGD:1349486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18313124 12008026 GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:630 genetic disease ISO RGD:1349486 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12008026 GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1349486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19833324|PMID:20133874 12008026 GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:9976 heroin dependence ISO RGD:1349486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19833324 12008055 TMED10 transmembrane p24 trafficking protein 10 gene DOID:1059 intellectual disability ISO RGD:731656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12008055 TMED10 transmembrane p24 trafficking protein 10 gene DOID:10652 Alzheimer's disease ISO RGD:731656 D RGD:9068941 20200609 RGD protein:decreased expression:brain cortex (human) PMID:18652896|REF_RGD_ID:2317276 12008055 TMED10 transmembrane p24 trafficking protein 10 gene DOID:630 genetic disease ISO RGD:731656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008066 LOC100986637 caspase-1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:735988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12008066 LOC100986637 caspase-1 gene DOID:10283 prostate cancer ISO RGD:735988 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:11221855|REF_RGD_ID:2315884 12008066 LOC100986637 caspase-1 gene DOID:1059 intellectual disability ISO RGD:735988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12008066 LOC100986637 caspase-1 gene DOID:10652 Alzheimer's disease ISO RGD:735988 D RGD:9068941 20200609 RGD PMID:12633148|REF_RGD_ID:13782269 12008066 LOC100986637 caspase-1 gene DOID:11132 prostatic hypertrophy ISO RGD:735988 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:16333955|REF_RGD_ID:2315883 12008066 LOC100986637 caspase-1 gene DOID:11832 visual epilepsy ISO RGD:2274 D RGD:9068941 20200609 RGD PMID:16886979|REF_RGD_ID:2315919 12008066 LOC100986637 caspase-1 gene DOID:1205 allergic disease ISO RGD:735988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12008066 LOC100986637 caspase-1 gene DOID:12704 ataxia telangiectasia ISO RGD:735988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12008066 LOC100986637 caspase-1 gene DOID:1824 status epilepticus ISO RGD:735988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18571097 12008066 LOC100986637 caspase-1 gene DOID:2377 multiple sclerosis ISO RGD:735988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25458313 12008066 LOC100986637 caspase-1 gene DOID:2841 asthma ISO RGD:735988 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12396474|REF_RGD_ID:5130192 12008066 LOC100986637 caspase-1 gene DOID:3021 acute kidney failure ISO RGD:2274 D RGD:9068941 20200609 RGD PMID:16557226|REF_RGD_ID:2293624 12008066 LOC100986637 caspase-1 gene DOID:4483 rhinitis ISO RGD:731729 D RGD:9068941 20200609 RGD PMID:20974310|REF_RGD_ID:5130187 12008066 LOC100986637 caspase-1 gene DOID:4483 rhinitis ISO RGD:735988 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12396474|REF_RGD_ID:5130192 12008066 LOC100986637 caspase-1 gene DOID:552 pneumonia ISO RGD:735988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12008066 LOC100986637 caspase-1 gene DOID:557 kidney disease ISO RGD:735988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22647887 12008066 LOC100986637 caspase-1 gene DOID:5844 myocardial infarction ameliorates ISO RGD:2274 D RGD:9068941 20230330 RGD PMID:33389498|REF_RGD_ID:242905187 12008066 LOC100986637 caspase-1 gene DOID:5844 myocardial infarction severity ISO RGD:731729 D RGD:9068941 20200609 RGD PMID:17303764|REF_RGD_ID:2315913 12008066 LOC100986637 caspase-1 gene DOID:6000 congestive heart failure ISO RGD:731729 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart left ventricle PMID:17303764|REF_RGD_ID:2315913 12008066 LOC100986637 caspase-1 gene DOID:6000 congestive heart failure ISO RGD:735988 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle PMID:17303764|REF_RGD_ID:2315913 12008066 LOC100986637 caspase-1 gene DOID:630 genetic disease ISO RGD:735988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008066 LOC100986637 caspase-1 gene DOID:850 lung disease ISO RGD:731729 D RGD:9068941 20200609 RGD PMID:19265174|REF_RGD_ID:4889574 12008066 LOC100986637 caspase-1 gene DOID:850 lung disease ISO RGD:731729 D RGD:9068941 20200609 RGD Acute Lung Injury associated with Pancreatitis PMID:17278232|REF_RGD_ID:5130182 12008066 LOC100986637 caspase-1 gene DOID:8719 in situ carcinoma ISO RGD:735988 D RGD:9068941 20200609 RGD associated with Carcinoma, Lobular PMID:17375183|REF_RGD_ID:2298754 12008066 LOC100986637 caspase-1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2274 D RGD:9068941 20200609 RGD protein:increased expression, increased activation:spinal cord PMID:18367607|REF_RGD_ID:2315889 12008066 LOC100986637 caspase-1 gene DOID:9000641 Pain ISO RGD:2274 D RGD:9068941 20200609 RGD PMID:19853379|REF_RGD_ID:2315887 12008066 LOC100986637 caspase-1 gene DOID:9000998 Brain Injuries ISO RGD:2274 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:17188500|REF_RGD_ID:2315917 12008066 LOC100986637 caspase-1 gene DOID:9001488 Human Influenza ISO RGD:731729 D RGD:9068941 20200609 RGD PMID:19362023|REF_RGD_ID:5130181 12008066 LOC100986637 caspase-1 gene DOID:9001542 Albuminuria ISO RGD:735988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22647887 12008066 LOC100986637 caspase-1 gene DOID:9001547 Tibial Fractures ISO RGD:2274 D RGD:9068941 20200609 RGD PMID:19853379|REF_RGD_ID:2315887 12008066 LOC100986637 caspase-1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12008066 LOC100986637 caspase-1 gene DOID:9002254 Dilatation, Pathologic ISO RGD:735988 D RGD:9068941 20200609 RGD associated with Heart Failure, Congestive PMID:17303764|REF_RGD_ID:2315913 12008066 LOC100986637 caspase-1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2274 D RGD:9068941 20200609 RGD PMID:23046993|REF_RGD_ID:13782359 12008066 LOC100986637 caspase-1 gene DOID:9004009 Reperfusion Injury ISO RGD:2274 D RGD:9068941 20200609 RGD PMID:17845807|REF_RGD_ID:2315890 12008066 LOC100986637 caspase-1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:735988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12008066 LOC100986637 caspase-1 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:731729 D RGD:9068941 20210924 RGD PMID:10557324|REF_RGD_ID:2315886 12008066 LOC100986637 caspase-1 gene DOID:9005372 Inflammation ISO RGD:735988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22325453 12008066 LOC100986637 caspase-1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2274 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:18398369|REF_RGD_ID:2315888 12008066 LOC100986637 caspase-1 gene DOID:9005930 Endotoxemia ISO RGD:2274 D RGD:9068941 20200609 RGD PMID:17384935|REF_RGD_ID:2315892 12008066 LOC100986637 caspase-1 gene DOID:9006928 Viral Bronchiolitis ISO RGD:735988 D RGD:9068941 20200609 RGD PMID:15196254|REF_RGD_ID:5130189 12008066 LOC100986637 caspase-1 gene DOID:9007692 Insulin Resistance ISO RGD:735988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22325453 12008066 LOC100986637 caspase-1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:735988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14998631 12008066 LOC100986637 caspase-1 gene DOID:9007956 Febrile Seizures treatment ISO RGD:2274 D RGD:9068941 20200609 RGD PMID:30947016|REF_RGD_ID:25823138 12008066 LOC100986637 caspase-1 gene DOID:9279 hyperhomocysteinemia ISO RGD:735988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22647887 12008066 LOC100986637 caspase-1 gene DOID:9970 obesity ISO RGD:735988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22325453 12008104 ACOX2 acyl-CoA oxidase 2 gene DOID:0111067 congenital bile acid synthesis defect 6 ISO RGD:735528 D RGD:7240710 20190315 OMIM 12008104 ACOX2 acyl-CoA oxidase 2 gene DOID:0111067 congenital bile acid synthesis defect 6 ISO RGD:735528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect 6 PMID:25741868|PMID:27647924|PMID:27884763|PMID:28492532 12008104 ACOX2 acyl-CoA oxidase 2 gene DOID:630 genetic disease ISO RGD:735528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12008104 ACOX2 acyl-CoA oxidase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735528 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12008104 ACOX2 acyl-CoA oxidase 2 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:735528 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 12008130 FCGRT Fc gamma receptor and transporter gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:736100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12008130 FCGRT Fc gamma receptor and transporter gene DOID:630 genetic disease ISO RGD:736100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008139 RAET1E retinoic acid early transcript 1E gene DOID:630 genetic disease ISO RGD:1322405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008158 GABARAP GABA type A receptor-associated protein gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:736805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12008158 GABARAP GABA type A receptor-associated protein gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:736805 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12008158 GABARAP GABA type A receptor-associated protein gene DOID:1059 intellectual disability ISO RGD:736805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12008158 GABARAP GABA type A receptor-associated protein gene DOID:12177 common variable immunodeficiency ISO RGD:736805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12008158 GABARAP GABA type A receptor-associated protein gene DOID:2729 dyskeratosis congenita ISO RGD:736805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12008158 GABARAP GABA type A receptor-associated protein gene DOID:3012 Li-Fraumeni syndrome ISO RGD:736805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12008158 GABARAP GABA type A receptor-associated protein gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:736805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 12008166 PRPF39 pre-mRNA processing factor 39 gene DOID:13636 Fanconi anemia ISO RGD:1318626 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532|PMID:29895858|PMID:30075111 12008166 PRPF39 pre-mRNA processing factor 39 gene DOID:630 genetic disease ISO RGD:1318626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008166 PRPF39 pre-mRNA processing factor 39 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1318626 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12008200 TCFL5 transcription factor like 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1348705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12008200 TCFL5 transcription factor like 5 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1348705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12008200 TCFL5 transcription factor like 5 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1348705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12008200 TCFL5 transcription factor like 5 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1348705 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12008200 TCFL5 transcription factor like 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1348705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12008200 TCFL5 transcription factor like 5 gene DOID:12721 multiple epiphyseal dysplasia ISO RGD:1348705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant 12008200 TCFL5 transcription factor like 5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1348705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 12008200 TCFL5 transcription factor like 5 gene DOID:1826 epilepsy ISO RGD:1348705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 12008200 TCFL5 transcription factor like 5 gene DOID:630 genetic disease ISO RGD:1348705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008222 UBFD1 ubiquitin family domain containing 1 gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:1606788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:28492532 12008222 UBFD1 ubiquitin family domain containing 1 gene DOID:630 genetic disease ISO RGD:1606788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008222 UBFD1 ubiquitin family domain containing 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:17200668|PMID:17200671|PMID:19609323|PMID:28492532 12008246 RHOU ras homolog family member U gene DOID:1540 parathyroid carcinoma ISO RGD:1347334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12008246 RHOU ras homolog family member U gene DOID:630 genetic disease ISO RGD:1347334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008246 RHOU ras homolog family member U gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12008254 ARHGAP32 Rho GTPase activating protein 32 gene DOID:0060041 autism spectrum disorder ISO RGD:1313195 D RGD:9068941 20220825 MouseDO 12008254 ARHGAP32 Rho GTPase activating protein 32 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1605412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12008254 ARHGAP32 Rho GTPase activating protein 32 gene DOID:3070 high grade glioma ISO RGD:1605412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12008254 ARHGAP32 Rho GTPase activating protein 32 gene DOID:5419 schizophrenia ISO RGD:1605412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12008254 ARHGAP32 Rho GTPase activating protein 32 gene DOID:630 genetic disease ISO RGD:1605412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008254 ARHGAP32 Rho GTPase activating protein 32 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12008254 ARHGAP32 Rho GTPase activating protein 32 gene DOID:9007661 Dwarfism ISO RGD:1605412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12008281 ANKRD42 ankyrin repeat domain 42 gene DOID:1059 intellectual disability ISO RGD:1605233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12008281 ANKRD42 ankyrin repeat domain 42 gene DOID:630 genetic disease ISO RGD:1605233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008316 SNX18 sorting nexin 18 gene DOID:630 genetic disease ISO RGD:1321231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008316 SNX18 sorting nexin 18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12008316 SNX18 sorting nexin 18 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17984051 12008322 CALCOCO2 calcium binding and coiled-coil domain 2 gene DOID:630 genetic disease ISO RGD:1601886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008322 CALCOCO2 calcium binding and coiled-coil domain 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1601886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 12008351 ZNF665 zinc finger protein 665 gene DOID:630 genetic disease ISO RGD:1605935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008359 GSTO2 glutathione S-transferase omega 2 gene DOID:10652 Alzheimer's disease no_association ISO RGD:1321858 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: -183 A>G (rs2297235)(human) PMID:15917099|REF_RGD_ID:5490514 12008359 GSTO2 glutathione S-transferase omega 2 gene DOID:10652 Alzheimer's disease onset ISO RGD:1321858 D RGD:9068941 20200609 RGD DDNA:polymorphism: : -183 A>G (rs2297235)(human) PMID:14570706|REF_RGD_ID:1358651 12008359 GSTO2 glutathione S-transferase omega 2 gene DOID:11054 urinary bladder cancer ISO RGD:1321858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22306368 12008359 GSTO2 glutathione S-transferase omega 2 gene DOID:14330 Parkinson's disease onset ISO RGD:1321858 D RGD:9068941 20200609 RGD DDNA:polymorphism: : -183 A>G (rs2297235)(human) PMID:14570706|REF_RGD_ID:1358651 12008359 GSTO2 glutathione S-transferase omega 2 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1321858 D RGD:9068941 20200609 RGD DNA:polymorphism: : -183 A>G (rs2297235)(human) PMID:17194543|REF_RGD_ID:5490299 12008359 GSTO2 glutathione S-transferase omega 2 gene DOID:2841 asthma susceptibility ISO RGD:1321858 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p. N142D (human) PMID:20374258|REF_RGD_ID:5490988 12008359 GSTO2 glutathione S-transferase omega 2 gene DOID:630 genetic disease ISO RGD:1321858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008370 NOL12 nucleolar protein 12 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1601850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12008370 NOL12 nucleolar protein 12 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1601850 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12008370 NOL12 nucleolar protein 12 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1601850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12008370 NOL12 nucleolar protein 12 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1601850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12008370 NOL12 nucleolar protein 12 gene DOID:630 genetic disease ISO RGD:1601850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008386 RASL10B RAS like family 10 member B gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:1322024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 12008386 RASL10B RAS like family 10 member B gene DOID:11612 polycystic ovary syndrome ISO RGD:1322024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12008386 RASL10B RAS like family 10 member B gene DOID:630 genetic disease ISO RGD:1322024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008395 TLE6 TLE family member 6, subcortical maternal complex member gene DOID:630 genetic disease ISO RGD:1343822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008395 TLE6 TLE family member 6, subcortical maternal complex member gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12008395 TLE6 TLE family member 6, subcortical maternal complex member gene DOID:9006818 Oocyte/Zygote/Embryo Maturation Arrest 15 ISO RGD:1343822 D RGD:7240710 20190315 OMIM 12008395 TLE6 TLE family member 6, subcortical maternal complex member gene DOID:9006818 Oocyte/Zygote/Embryo Maturation Arrest 15 ISO RGD:1343822 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Preimplantation embryonic lethality 1 PMID:25741868|PMID:26537248|PMID:36271123 12008415 NUAK1 NUAK family kinase 1 gene DOID:0080600 COVID-19 ISO RGD:1605098 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12008415 NUAK1 NUAK family kinase 1 gene DOID:630 genetic disease ISO RGD:1605098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008415 NUAK1 NUAK family kinase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1605098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588|PMID:26873845 12008415 NUAK1 NUAK family kinase 1 gene DOID:9538 multiple myeloma ISO RGD:1605098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26873845 12008426 POLR3G RNA polymerase III subunit G gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348674 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12008426 POLR3G RNA polymerase III subunit G gene DOID:630 genetic disease ISO RGD:1348674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008426 POLR3G RNA polymerase III subunit G gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12008426 POLR3G RNA polymerase III subunit G gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348674 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12008452 DCLK2 doublecortin like kinase 2 gene DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 ISO RGD:1348460 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 PMID:24088041|PMID:25741868|PMID:31690835 12008452 DCLK2 doublecortin like kinase 2 gene DOID:630 genetic disease ISO RGD:1348460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008489 CIMAP2 ciliary microtubule associated protein 2 gene DOID:630 genetic disease ISO RGD:1603553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008506 MAP1B microtubule associated protein 1B gene DOID:0050454 periventricular nodular heterotopia ISO RGD:733041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia PMID:25741868|PMID:29738522|PMID:30150678 12008506 MAP1B microtubule associated protein 1B gene DOID:0060041 autism spectrum disorder ISO RGD:733041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30150678 12008506 MAP1B microtubule associated protein 1B gene DOID:11832 visual epilepsy ISO RGD:3043 D RGD:9068941 20220728 RGD mRNA, protein:altered localization:brain PMID:11395167|REF_RGD_ID:2304062 12008506 MAP1B microtubule associated protein 1B gene DOID:11832 visual epilepsy ISO RGD:3043 D RGD:9068941 20220728 RGD mRNA:increased expression:hippocampus PMID:12598335|REF_RGD_ID:2304015 12008506 MAP1B microtubule associated protein 1B gene DOID:1459 hypothyroidism ISO RGD:3043 D RGD:9068941 20200609 RGD protein:increased expression:cerebellum PMID:3252178|REF_RGD_ID:2304042 12008506 MAP1B microtubule associated protein 1B gene DOID:1826 epilepsy ISO RGD:733041 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12008506 MAP1B microtubule associated protein 1B gene DOID:630 genetic disease ISO RGD:733041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12008506 MAP1B microtubule associated protein 1B gene DOID:9000039 Spinal Cord Injuries ISO RGD:3043 D RGD:9068941 20200609 RGD protein:increased phosphorylation:spinal cord, neuron PMID:17880387|REF_RGD_ID:2304007 12008506 MAP1B microtubule associated protein 1B gene DOID:9000998 Brain Injuries ISO RGD:3043 D RGD:9068941 20200609 RGD protein:increased expression, increased phosphorylation:brain PMID:10906717|REF_RGD_ID:2304029 12008506 MAP1B microtubule associated protein 1B gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:733041 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12008506 MAP1B microtubule associated protein 1B gene DOID:9001401 Periventricular Nodular Heterotopia 9 ISO RGD:733041 D RGD:7240710 20200701 OMIM 12008506 MAP1B microtubule associated protein 1B gene DOID:9001401 Periventricular Nodular Heterotopia 9 ISO RGD:733041 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia 9 PMID:25741868|PMID:28492532|PMID:29738522|PMID:30150678|PMID:30979967|PMID:31317654|PMID:33268592 12008506 MAP1B microtubule associated protein 1B gene DOID:9003741 Autosomal Dominant Nonsyndromic Deafness 83 ISO RGD:733041 D RGD:7240710 20220413 OMIM 12008506 MAP1B microtubule associated protein 1B gene DOID:9003741 Autosomal Dominant Nonsyndromic Deafness 83 ISO RGD:733041 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 83 PMID:25741868|PMID:33268592 12008506 MAP1B microtubule associated protein 1B gene DOID:9003816 Macrocephaly ISO RGD:733041 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868 12008506 MAP1B microtubule associated protein 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30150678 12008506 MAP1B microtubule associated protein 1B gene DOID:9008086 Developmental Disabilities ISO RGD:733041 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:30979967 12008517 ELOVL7 ELOVL fatty acid elongase 7 gene DOID:630 genetic disease ISO RGD:1321534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008517 ELOVL7 ELOVL fatty acid elongase 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12008538 MYL4 myosin light chain 4 gene DOID:0050650 familial atrial fibrillation ISO RGD:1350723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial atrial fibrillation PMID:27066836|PMID:28492532|PMID:29080865 12008538 MYL4 myosin light chain 4 gene DOID:0050700 cardiomyopathy ISO RGD:1350723 D RGD:9068941 20210205 RGD human gene in rat model PMID:29080865|REF_RGD_ID:40902867 12008538 MYL4 myosin light chain 4 gene DOID:0050700 cardiomyopathy ISO RGD:1591197 D RGD:9068941 20210205 RGD PMID:29080865|REF_RGD_ID:40902867 12008538 MYL4 myosin light chain 4 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1350723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9527842 12008538 MYL4 myosin light chain 4 gene DOID:630 genetic disease ISO RGD:1350723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12008538 MYL4 myosin light chain 4 gene DOID:9002195 Atrial Dilation and Standstill susceptibility ISO RGD:1350723 D RGD:9068941 20210205 RGD DNA:missense mutation:cds (c.31G>A, p.E11K) (human) PMID:29080865|REF_RGD_ID:40902867 12008538 MYL4 myosin light chain 4 gene DOID:9005256 Familial Atrial Fibrillation 18 ISO RGD:1350723 D RGD:7240710 20190315 OMIM 12008538 MYL4 myosin light chain 4 gene DOID:9005256 Familial Atrial Fibrillation 18 ISO RGD:1350723 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 18 PMID:16199547|PMID:17576681|PMID:25741868|PMID:25807286|PMID:27066836|PMID:27742809|PMID:28492532|PMID:29080865|PMID:9536098 12008550 MMP9 matrix metallopeptidase 9 gene DOID:0002116 pterygium disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:19420332|REF_RGD_ID:8657043 12008550 MMP9 matrix metallopeptidase 9 gene DOID:0050127 sinusitis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:20392482|REF_RGD_ID:5130763 12008550 MMP9 matrix metallopeptidase 9 gene DOID:0050697 chorioamnionitis severity ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:12712078|REF_RGD_ID:13204828 12008550 MMP9 matrix metallopeptidase 9 gene DOID:0050700 cardiomyopathy ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16681691|REF_RGD_ID:1581215 12008550 MMP9 matrix metallopeptidase 9 gene DOID:0050700 cardiomyopathy treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:21810612|REF_RGD_ID:13204757 12008550 MMP9 matrix metallopeptidase 9 gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:14504963|REF_RGD_ID:13204808 12008550 MMP9 matrix metallopeptidase 9 gene DOID:0050827 rheumatic heart disease ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16406300|REF_RGD_ID:1582623 12008550 MMP9 matrix metallopeptidase 9 gene DOID:0050848 obstructive sleep apnea ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:19652426|REF_RGD_ID:5130877 12008550 MMP9 matrix metallopeptidase 9 gene DOID:0050848 obstructive sleep apnea disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:palatopharyngeal muscle PMID:20836084|REF_RGD_ID:5129212 12008550 MMP9 matrix metallopeptidase 9 gene DOID:0050851 glomerulosclerosis ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Hyperhomocysteinemia PMID:20406136|REF_RGD_ID:7207203 12008550 MMP9 matrix metallopeptidase 9 gene DOID:0050851 glomerulosclerosis ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Obesity;mRNA:decreased expression:glomerulus PMID:9300240|REF_RGD_ID:8547929 12008550 MMP9 matrix metallopeptidase 9 gene DOID:0050855 renal fibrosis ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23006043|REF_RGD_ID:13204847 12008550 MMP9 matrix metallopeptidase 9 gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1348437 D RGD:9068941 20220825 RGD protein:increased expression:tongue (human) PMID:26581505|REF_RGD_ID:11535375 12008550 MMP9 matrix metallopeptidase 9 gene DOID:0060001 withdrawal disorder ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20519536 12008550 MMP9 matrix metallopeptidase 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:25466251|REF_RGD_ID:13204755 12008550 MMP9 matrix metallopeptidase 9 gene DOID:0060041 autism spectrum disorder ISO RGD:731911 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:25466251|REF_RGD_ID:13204755 12008550 MMP9 matrix metallopeptidase 9 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:14744773|REF_RGD_ID:2290436 12008550 MMP9 matrix metallopeptidase 9 gene DOID:0060224 atrial fibrillation ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:18194448|REF_RGD_ID:8547896 12008550 MMP9 matrix metallopeptidase 9 gene DOID:0060224 atrial fibrillation ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:papillary muscle of left ventricle PMID:19734590|REF_RGD_ID:8549736 12008550 MMP9 matrix metallopeptidase 9 gene DOID:0060903 thrombosis ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Arteriovenous Fistula;DNA:snp:promoter:g.-1562C>A (rs34016235) (human) PMID:20616161|REF_RGD_ID:7207048 12008550 MMP9 matrix metallopeptidase 9 gene DOID:0080162 lupus nephritis ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22479529 12008550 MMP9 matrix metallopeptidase 9 gene DOID:0080176 meningococcal meningitis ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:10430840|REF_RGD_ID:8547971 12008550 MMP9 matrix metallopeptidase 9 gene DOID:0080177 hepatic veno-occlusive disease ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:blood, liver, lung PMID:23303633|REF_RGD_ID:13204885 12008550 MMP9 matrix metallopeptidase 9 gene DOID:0080207 CAKUT2 treatment ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:27448803|REF_RGD_ID:13204792 12008550 MMP9 matrix metallopeptidase 9 gene DOID:0080685 aortic dissection treatment ISO RGD:731911 D RGD:9068941 20230223 RGD Apolipoprotein E knockout PMID:33403385|REF_RGD_ID:156420156 12008550 MMP9 matrix metallopeptidase 9 gene DOID:0080745 polymyositis ISO RGD:1348437 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:11157561|REF_RGD_ID:8547876 12008550 MMP9 matrix metallopeptidase 9 gene DOID:0080746 Sweet syndrome ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:21658319|REF_RGD_ID:8657060 12008550 MMP9 matrix metallopeptidase 9 gene DOID:0080855 Parkinsonism treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:15075439|REF_RGD_ID:13204850 12008550 MMP9 matrix metallopeptidase 9 gene DOID:0081128 mandibuloacral dysplasia type A lipodystrophy ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18554282 12008550 MMP9 matrix metallopeptidase 9 gene DOID:0081292 traumatic brain injury ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25668593 12008550 MMP9 matrix metallopeptidase 9 gene DOID:0111563 Sturge-Weber syndrome severity ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:23720035|REF_RGD_ID:13204823 12008550 MMP9 matrix metallopeptidase 9 gene DOID:10223 dermatomyositis ISO RGD:1348437 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:11157561|REF_RGD_ID:8547876 12008550 MMP9 matrix metallopeptidase 9 gene DOID:10534 stomach cancer ameliorates ISO RGD:1348437 D RGD:9068941 20211029 RGD human cells in mouse model PMID:26432329|REF_RGD_ID:150520156 12008550 MMP9 matrix metallopeptidase 9 gene DOID:10588 adrenoleukodystrophy ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:23185624|REF_RGD_ID:13204814 12008550 MMP9 matrix metallopeptidase 9 gene DOID:10591 pre-eclampsia ISO RGD:1348437 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:placenta PMID:17083831|REF_RGD_ID:2290399 12008550 MMP9 matrix metallopeptidase 9 gene DOID:10591 pre-eclampsia ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:23776237|REF_RGD_ID:13204787 12008550 MMP9 matrix metallopeptidase 9 gene DOID:106 pleural tuberculosis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:pleura: PMID:18715875|REF_RGD_ID:5129700 12008550 MMP9 matrix metallopeptidase 9 gene DOID:10652 Alzheimer's disease ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:17697439|REF_RGD_ID:7207052 12008550 MMP9 matrix metallopeptidase 9 gene DOID:1070 primary open angle glaucoma no_association ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:insertion: :p.Q279R (rs17576) (human) PMID:20808730|REF_RGD_ID:8549725 12008550 MMP9 matrix metallopeptidase 9 gene DOID:1073 renal hypertension ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:12923405|REF_RGD_ID:1302333 12008550 MMP9 matrix metallopeptidase 9 gene DOID:10763 hypertension ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21051829 12008550 MMP9 matrix metallopeptidase 9 gene DOID:10763 hypertension ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16840178|REF_RGD_ID:1582612 12008550 MMP9 matrix metallopeptidase 9 gene DOID:10763 hypertension ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:decreased expression:internal mammary artery PMID:15363819|REF_RGD_ID:1582532 12008550 MMP9 matrix metallopeptidase 9 gene DOID:10763 hypertension ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:17977875|REF_RGD_ID:2290351 12008550 MMP9 matrix metallopeptidase 9 gene DOID:10763 hypertension susceptibility ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Aneurysm, Dissecting;DNA:polymorphism:promoter:-1562C>T PMID:16780738|REF_RGD_ID:1642029 12008550 MMP9 matrix metallopeptidase 9 gene DOID:10808 gastric ulcer ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17603938 12008550 MMP9 matrix metallopeptidase 9 gene DOID:10808 gastric ulcer ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:stomach secretion PMID:17603938|REF_RGD_ID:1642033 12008550 MMP9 matrix metallopeptidase 9 gene DOID:1094 attention deficit hyperactivity disorder severity ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:24633733|REF_RGD_ID:13204849 12008550 MMP9 matrix metallopeptidase 9 gene DOID:10941 intracranial aneurysm ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:9310982|REF_RGD_ID:13204853 12008550 MMP9 matrix metallopeptidase 9 gene DOID:10941 intracranial aneurysm ISO RGD:1348437 D RGD:9068941 20230202 RGD protein:increased expression:artery PMID:32602008|REF_RGD_ID:155882593 12008550 MMP9 matrix metallopeptidase 9 gene DOID:10941 intracranial aneurysm ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23844137|REF_RGD_ID:8547935 12008550 MMP9 matrix metallopeptidase 9 gene DOID:10941 intracranial aneurysm ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:artery PMID:17122420|REF_RGD_ID:1642055 12008550 MMP9 matrix metallopeptidase 9 gene DOID:10941 intracranial aneurysm ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA:increased expression:blood vessel PMID:17569872|REF_RGD_ID:2290352 12008550 MMP9 matrix metallopeptidase 9 gene DOID:10941 intracranial aneurysm susceptibility ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16961137|REF_RGD_ID:1582646 12008550 MMP9 matrix metallopeptidase 9 gene DOID:10941 intracranial aneurysm treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:21937941|REF_RGD_ID:13204858 12008550 MMP9 matrix metallopeptidase 9 gene DOID:10964 cholesteatoma of middle ear severity ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:15620146|REF_RGD_ID:8547870 12008550 MMP9 matrix metallopeptidase 9 gene DOID:10976 membranous glomerulonephritis ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:8613533|REF_RGD_ID:8547919 12008550 MMP9 matrix metallopeptidase 9 gene DOID:11054 urinary bladder cancer ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30548095 12008550 MMP9 matrix metallopeptidase 9 gene DOID:11054 urinary bladder cancer ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:17466450|REF_RGD_ID:2290395 12008550 MMP9 matrix metallopeptidase 9 gene DOID:11294 arteriovenous malformation ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16720380|REF_RGD_ID:1582655 12008550 MMP9 matrix metallopeptidase 9 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:21211006|REF_RGD_ID:5129208 12008550 MMP9 matrix metallopeptidase 9 gene DOID:11446 sciatic neuropathy treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:25172308|REF_RGD_ID:13207330 12008550 MMP9 matrix metallopeptidase 9 gene DOID:11476 osteoporosis ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with osteoporosis; protein:increased expression:serum PMID:19411568|REF_RGD_ID:5129553 12008550 MMP9 matrix metallopeptidase 9 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:19097983|REF_RGD_ID:5129685 12008550 MMP9 matrix metallopeptidase 9 gene DOID:1168 familial hyperlipidemia ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:16490430|REF_RGD_ID:1642030 12008550 MMP9 matrix metallopeptidase 9 gene DOID:11723 Duchenne muscular dystrophy treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:23977226|REF_RGD_ID:13204809 12008550 MMP9 matrix metallopeptidase 9 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18585501|REF_RGD_ID:5130889 12008550 MMP9 matrix metallopeptidase 9 gene DOID:12236 primary biliary cholangitis treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:20056896|REF_RGD_ID:8552731 12008550 MMP9 matrix metallopeptidase 9 gene DOID:12510 retinal ischemia treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23537149|REF_RGD_ID:10755711 12008550 MMP9 matrix metallopeptidase 9 gene DOID:12662 paracoccidioidomycosis ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:19765107|REF_RGD_ID:8657058 12008550 MMP9 matrix metallopeptidase 9 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:731911 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:bronchoalveolar lavage fluid PMID:17254480|REF_RGD_ID:5130726 12008550 MMP9 matrix metallopeptidase 9 gene DOID:12858 Huntington's disease ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:striatum PMID:21175737|REF_RGD_ID:13204827 12008550 MMP9 matrix metallopeptidase 9 gene DOID:12894 Sjogren's syndrome ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:15316122|REF_RGD_ID:8547814 12008550 MMP9 matrix metallopeptidase 9 gene DOID:12894 Sjogren's syndrome ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased activity:saliva PMID:9923658|REF_RGD_ID:8547858 12008550 MMP9 matrix metallopeptidase 9 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:kidney PMID:19357873|REF_RGD_ID:2325738 12008550 MMP9 matrix metallopeptidase 9 gene DOID:13139 crescentic glomerulonephritis ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:renal cortex (rat) PMID:16046515|REF_RGD_ID:2313720 12008550 MMP9 matrix metallopeptidase 9 gene DOID:13241 Behcet's disease ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:17949555|REF_RGD_ID:8657044 12008550 MMP9 matrix metallopeptidase 9 gene DOID:13241 Behcet's disease ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:plasma, platelets PMID:22116092|REF_RGD_ID:8547820 12008550 MMP9 matrix metallopeptidase 9 gene DOID:13375 temporal arteritis ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNP:CDS:rs2250889 (human) PMID:18512818|REF_RGD_ID:8547902 12008550 MMP9 matrix metallopeptidase 9 gene DOID:13375 temporal arteritis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased activity:temporal artery PMID:17502363|REF_RGD_ID:8657040 12008550 MMP9 matrix metallopeptidase 9 gene DOID:13375 temporal arteritis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:8843867|REF_RGD_ID:8547826 12008550 MMP9 matrix metallopeptidase 9 gene DOID:13375 temporal arteritis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:temporal artery (human) PMID:15998676|REF_RGD_ID:1580575 12008550 MMP9 matrix metallopeptidase 9 gene DOID:13375 temporal arteritis no_association ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, CDS:rs17576, rs3918242, rs3918252 (human) PMID:18512818|REF_RGD_ID:8547902 12008550 MMP9 matrix metallopeptidase 9 gene DOID:13378 Kawasaki disease ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:12626459|REF_RGD_ID:1580170 12008550 MMP9 matrix metallopeptidase 9 gene DOID:13378 Kawasaki disease ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:18311803|REF_RGD_ID:8547899 12008550 MMP9 matrix metallopeptidase 9 gene DOID:13515 tuberous sclerosis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:22459050|REF_RGD_ID:8547829 12008550 MMP9 matrix metallopeptidase 9 gene DOID:13550 angle-closure glaucoma ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNP: :c.836A>G (rs17576) (human) PMID:23441116|REF_RGD_ID:8549724 12008550 MMP9 matrix metallopeptidase 9 gene DOID:13550 angle-closure glaucoma ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNP: :rs2664538 (human) PMID:17110919|REF_RGD_ID:8547816 12008550 MMP9 matrix metallopeptidase 9 gene DOID:13550 angle-closure glaucoma ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNPs: :rs17576, rs3918249 (human) PMID:21655354|REF_RGD_ID:8547830 12008550 MMP9 matrix metallopeptidase 9 gene DOID:13550 angle-closure glaucoma no_association ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1562C>T (human) PMID:23441116|REF_RGD_ID:8549724 12008550 MMP9 matrix metallopeptidase 9 gene DOID:13619 extrahepatic cholestasis ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 12008550 MMP9 matrix metallopeptidase 9 gene DOID:13641 exfoliation syndrome no_association ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:insertion: :p.Q279R (rs17576) (human) PMID:20808730|REF_RGD_ID:8549725 12008550 MMP9 matrix metallopeptidase 9 gene DOID:13714 anodontia ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNP: :rs17576 (human) PMID:24351915|REF_RGD_ID:13204812 12008550 MMP9 matrix metallopeptidase 9 gene DOID:13934 facial paralysis ISO RGD:731911 D RGD:9068941 20200609 RGD associated with Herpes Simplex;mRNA, protein:increased expression:facial VII nucleus PMID:23817985|REF_RGD_ID:8547852 12008550 MMP9 matrix metallopeptidase 9 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16159824 12008550 MMP9 matrix metallopeptidase 9 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16678588|REF_RGD_ID:1580554 12008550 MMP9 matrix metallopeptidase 9 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:decreased activity:aorta (human) PMID:16820601|REF_RGD_ID:1582351 12008550 MMP9 matrix metallopeptidase 9 gene DOID:14004 thoracic aortic aneurysm ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta PMID:20621845|REF_RGD_ID:5129489 12008550 MMP9 matrix metallopeptidase 9 gene DOID:14250 Down syndrome ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:24519975|REF_RGD_ID:13204810 12008550 MMP9 matrix metallopeptidase 9 gene DOID:14261 fragile X syndrome ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:25466251|REF_RGD_ID:13204755 12008550 MMP9 matrix metallopeptidase 9 gene DOID:14261 fragile X syndrome treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:26850918|REF_RGD_ID:11572344 12008550 MMP9 matrix metallopeptidase 9 gene DOID:14323 Marfan syndrome ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18178469 12008550 MMP9 matrix metallopeptidase 9 gene DOID:14323 Marfan syndrome treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:18178469|REF_RGD_ID:13204796 12008550 MMP9 matrix metallopeptidase 9 gene DOID:1485 cystic fibrosis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:bronchoalveolar lavage fluid PMID:17526676|REF_RGD_ID:5130723 12008550 MMP9 matrix metallopeptidase 9 gene DOID:1485 cystic fibrosis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:25545245|REF_RGD_ID:13204794 12008550 MMP9 matrix metallopeptidase 9 gene DOID:1561 cognitive disorder ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:22363061|REF_RGD_ID:8694114 12008550 MMP9 matrix metallopeptidase 9 gene DOID:1574 alcohol use disorder ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:24966898|REF_RGD_ID:13207311 12008550 MMP9 matrix metallopeptidase 9 gene DOID:1657 ventricular septal defect severity ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:21238444|REF_RGD_ID:13204804 12008550 MMP9 matrix metallopeptidase 9 gene DOID:1686 glaucoma ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16185954|REF_RGD_ID:8547817 12008550 MMP9 matrix metallopeptidase 9 gene DOID:1749 squamous cell carcinoma ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 12008550 MMP9 matrix metallopeptidase 9 gene DOID:1749 squamous cell carcinoma ISO RGD:1348437 D RGD:9068941 20200609 RGD mRNA:increased expression:tongue PMID:18254958|REF_RGD_ID:8547895 12008550 MMP9 matrix metallopeptidase 9 gene DOID:1749 squamous cell carcinoma ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:middle ear PMID:22178867|REF_RGD_ID:8547836 12008550 MMP9 matrix metallopeptidase 9 gene DOID:1749 squamous cell carcinoma ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa PMID:21624249|REF_RGD_ID:8657057 12008550 MMP9 matrix metallopeptidase 9 gene DOID:1749 squamous cell carcinoma ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:11081634|REF_RGD_ID:8547854 12008550 MMP9 matrix metallopeptidase 9 gene DOID:1793 pancreatic cancer ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22952646 12008550 MMP9 matrix metallopeptidase 9 gene DOID:1793 pancreatic cancer ISO RGD:1348437 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:7635566|REF_RGD_ID:2325766 12008550 MMP9 matrix metallopeptidase 9 gene DOID:1793 pancreatic cancer ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:18030366|PMID:18445772|REF_RGD_ID:2325849|REF_RGD_ID:2325854 12008550 MMP9 matrix metallopeptidase 9 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19629003|REF_RGD_ID:2325831 12008550 MMP9 matrix metallopeptidase 9 gene DOID:182 calcinosis ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15545515|PMID:21193197 12008550 MMP9 matrix metallopeptidase 9 gene DOID:1824 status epilepticus ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus, astrocyte, dendrite PMID:17928157|REF_RGD_ID:8547922 12008550 MMP9 matrix metallopeptidase 9 gene DOID:1825 childhood absence epilepsy ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:20303372|REF_RGD_ID:8547934 12008550 MMP9 matrix metallopeptidase 9 gene DOID:1826 epilepsy ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, hippocampus PMID:23182966|REF_RGD_ID:13204763 12008550 MMP9 matrix metallopeptidase 9 gene DOID:2123 tularemia ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:17202364|REF_RGD_ID:5130727 12008550 MMP9 matrix metallopeptidase 9 gene DOID:2234 focal epilepsy ISO RGD:1348437 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12008550 MMP9 matrix metallopeptidase 9 gene DOID:224 transient cerebral ischemia ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased activity, increased expression:brain PMID:11592852|REF_RGD_ID:8547930 12008550 MMP9 matrix metallopeptidase 9 gene DOID:224 transient cerebral ischemia ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:16197500|REF_RGD_ID:8547921 12008550 MMP9 matrix metallopeptidase 9 gene DOID:224 transient cerebral ischemia treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23046750|PMID:24773551|REF_RGD_ID:13207320|REF_RGD_ID:13207323 12008550 MMP9 matrix metallopeptidase 9 gene DOID:2316 brain ischemia ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15060315 12008550 MMP9 matrix metallopeptidase 9 gene DOID:2316 brain ischemia ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:16846501|REF_RGD_ID:1582611 12008550 MMP9 matrix metallopeptidase 9 gene DOID:234 colon adenocarcinoma ISO RGD:1348437 D RGD:9068941 20220826 RGD protein:increased expression:colon (human) PMID:22419013|REF_RGD_ID:153344572 12008550 MMP9 matrix metallopeptidase 9 gene DOID:2349 arteriosclerosis ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:15823277|REF_RGD_ID:1580550 12008550 MMP9 matrix metallopeptidase 9 gene DOID:2349 arteriosclerosis ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:16317521|REF_RGD_ID:1582628 12008550 MMP9 matrix metallopeptidase 9 gene DOID:2377 multiple sclerosis ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNP, repeat:promoter:-1562C>T (human) PMID:20471697|REF_RGD_ID:13204848 12008550 MMP9 matrix metallopeptidase 9 gene DOID:2377 multiple sclerosis ISO RGD:1348437 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, mononuclear cell PMID:23401127|REF_RGD_ID:13204754 12008550 MMP9 matrix metallopeptidase 9 gene DOID:2377 multiple sclerosis no_association ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:repeat, SNP:promoter PMID:10713364|REF_RGD_ID:13204826 12008550 MMP9 matrix metallopeptidase 9 gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1562C>T (human) PMID:19628284|REF_RGD_ID:13204795 12008550 MMP9 matrix metallopeptidase 9 gene DOID:2378 relapsing-remitting multiple sclerosis treatment ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16412833|REF_RGD_ID:13204825 12008550 MMP9 matrix metallopeptidase 9 gene DOID:2508 Takayasu's arteritis disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:23100088|REF_RGD_ID:8693315 12008550 MMP9 matrix metallopeptidase 9 gene DOID:2560 morphine dependence ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20519536 12008550 MMP9 matrix metallopeptidase 9 gene DOID:2799 bronchiolitis obliterans ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:bronchoalveolar lavage fluid PMID:20417130|REF_RGD_ID:5130759 12008550 MMP9 matrix metallopeptidase 9 gene DOID:2841 asthma ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11742282|PMID:15131573 12008550 MMP9 matrix metallopeptidase 9 gene DOID:2841 asthma ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:19940022|REF_RGD_ID:5129522 12008550 MMP9 matrix metallopeptidase 9 gene DOID:2841 asthma ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNP: : rs2664538(human) PMID:20181264|REF_RGD_ID:5130859 12008550 MMP9 matrix metallopeptidase 9 gene DOID:2841 asthma ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19361849|REF_RGD_ID:5129687 12008550 MMP9 matrix metallopeptidase 9 gene DOID:2841 asthma ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21439806|REF_RGD_ID:5129204 12008550 MMP9 matrix metallopeptidase 9 gene DOID:2841 asthma ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:16191269|REF_RGD_ID:2325953 12008550 MMP9 matrix metallopeptidase 9 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:12487935|REF_RGD_ID:2298523 12008550 MMP9 matrix metallopeptidase 9 gene DOID:289 endometriosis ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:20085636|REF_RGD_ID:2325792 12008550 MMP9 matrix metallopeptidase 9 gene DOID:2957 pulmonary tuberculosis ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:16982845|REF_RGD_ID:5130746 12008550 MMP9 matrix metallopeptidase 9 gene DOID:3042 allergic contact dermatitis ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA:increased expression:skin, lymph node PMID:16977379|REF_RGD_ID:2325935 12008550 MMP9 matrix metallopeptidase 9 gene DOID:3042 allergic contact dermatitis ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:10359808|PMID:10415717|REF_RGD_ID:8547869|REF_RGD_ID:8693317 12008550 MMP9 matrix metallopeptidase 9 gene DOID:3068 glioblastoma ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16598420 12008550 MMP9 matrix metallopeptidase 9 gene DOID:3068 glioblastoma severity ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:brain (human) PMID:7616276|REF_RGD_ID:7207145 12008550 MMP9 matrix metallopeptidase 9 gene DOID:3068 glioblastoma treatment ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:12439751|REF_RGD_ID:8547973 12008550 MMP9 matrix metallopeptidase 9 gene DOID:3069 malignant astrocytoma ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20188714 12008550 MMP9 matrix metallopeptidase 9 gene DOID:3082 interstitial lung disease ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:20185904|REF_RGD_ID:5130857 12008550 MMP9 matrix metallopeptidase 9 gene DOID:3082 interstitial lung disease ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Sclerodema, systemic; protein:increased expression:bronchoalveolar lavage fluid PMID:17643278|REF_RGD_ID:5130207 12008550 MMP9 matrix metallopeptidase 9 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19299917 12008550 MMP9 matrix metallopeptidase 9 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19411568|REF_RGD_ID:5129553 12008550 MMP9 matrix metallopeptidase 9 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-1562C-->T (human) PMID:18619044|REF_RGD_ID:5130149 12008550 MMP9 matrix metallopeptidase 9 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:polymorphism: :-1562C-->T (human) PMID:20160424|REF_RGD_ID:5129494 12008550 MMP9 matrix metallopeptidase 9 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:25842729|REF_RGD_ID:13207319 12008550 MMP9 matrix metallopeptidase 9 gene DOID:326 ischemia ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:15047130|REF_RGD_ID:1582640 12008550 MMP9 matrix metallopeptidase 9 gene DOID:3310 atopic dermatitis treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:27776525|REF_RGD_ID:13204759 12008550 MMP9 matrix metallopeptidase 9 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum, plasma PMID:18760908|REF_RGD_ID:5129697 12008550 MMP9 matrix metallopeptidase 9 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731911 D RGD:9068941 20200609 RGD protein:increased expression:skin of body, spinal cord PMID:20441996|REF_RGD_ID:13204793 12008550 MMP9 matrix metallopeptidase 9 gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum, cerebrospinal fluid (human) PMID:19796283|REF_RGD_ID:7207054 12008550 MMP9 matrix metallopeptidase 9 gene DOID:3328 temporal lobe epilepsy ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:22459050|REF_RGD_ID:8547829 12008550 MMP9 matrix metallopeptidase 9 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:15191941|REF_RGD_ID:1582644 12008550 MMP9 matrix metallopeptidase 9 gene DOID:3393 coronary artery disease treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:26261622|REF_RGD_ID:11344965 12008550 MMP9 matrix metallopeptidase 9 gene DOID:3407 carotid artery disease ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16339461|REF_RGD_ID:1582626 12008550 MMP9 matrix metallopeptidase 9 gene DOID:3454 brain infarction ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16599837|REF_RGD_ID:1582617 12008550 MMP9 matrix metallopeptidase 9 gene DOID:3525 middle cerebral artery infarction ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19309543 12008550 MMP9 matrix metallopeptidase 9 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:24842554|REF_RGD_ID:13204729 12008550 MMP9 matrix metallopeptidase 9 gene DOID:3526 cerebral infarction ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16846501 12008550 MMP9 matrix metallopeptidase 9 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:20332475|REF_RGD_ID:2325830 12008550 MMP9 matrix metallopeptidase 9 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, serum PMID:18706098|REF_RGD_ID:2325844 12008550 MMP9 matrix metallopeptidase 9 gene DOID:3627 aortic aneurysm ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10231640 12008550 MMP9 matrix metallopeptidase 9 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1348437 D RGD:9068941 20220526 RGD protein:increased activity: esophagus PMID:24789592|REF_RGD_ID:152600903 12008550 MMP9 matrix metallopeptidase 9 gene DOID:3770 pulmonary fibrosis ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21468558 12008550 MMP9 matrix metallopeptidase 9 gene DOID:3770 pulmonary fibrosis ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:lung, plasma PMID:17121240|REF_RGD_ID:1642054 12008550 MMP9 matrix metallopeptidase 9 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23318412|REF_RGD_ID:13204970 12008550 MMP9 matrix metallopeptidase 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21789004 12008550 MMP9 matrix metallopeptidase 9 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20704821|REF_RGD_ID:5129215 12008550 MMP9 matrix metallopeptidase 9 gene DOID:4079 heart valve disease ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:24093773|REF_RGD_ID:13204818 12008550 MMP9 matrix metallopeptidase 9 gene DOID:409 liver disease ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12008550 MMP9 matrix metallopeptidase 9 gene DOID:418 systemic scleroderma ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:15642145|REF_RGD_ID:1580577 12008550 MMP9 matrix metallopeptidase 9 gene DOID:4195 hyperglycemia ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Brain Ischemia PMID:17272778|REF_RGD_ID:1642027 12008550 MMP9 matrix metallopeptidase 9 gene DOID:4250 conjunctivochalasis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:conjunctiva PMID:20019361|REF_RGD_ID:8693314 12008550 MMP9 matrix metallopeptidase 9 gene DOID:4448 macular degeneration ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:22490043|REF_RGD_ID:7829793 12008550 MMP9 matrix metallopeptidase 9 gene DOID:4448 macular degeneration severity ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor PMID:22773904|REF_RGD_ID:10053644 12008550 MMP9 matrix metallopeptidase 9 gene DOID:4450 renal cell carcinoma ISO RGD:1348437 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:18035688|REF_RGD_ID:2290358 12008550 MMP9 matrix metallopeptidase 9 gene DOID:4644 epidermolysis bullosa simplex ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:23894602|REF_RGD_ID:13204851 12008550 MMP9 matrix metallopeptidase 9 gene DOID:4724 brain edema ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15529013 12008550 MMP9 matrix metallopeptidase 9 gene DOID:4724 brain edema ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Cerebral Hemorrhage PMID:20541575|REF_RGD_ID:5490126 12008550 MMP9 matrix metallopeptidase 9 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:esophagus PMID:25562781|REF_RGD_ID:13204790 12008550 MMP9 matrix metallopeptidase 9 gene DOID:4947 cholangiocarcinoma ISO RGD:1348437 D RGD:9068941 20200609 RGD mRNA:increased expression:bile duct PMID:16463672|REF_RGD_ID:2325856 12008550 MMP9 matrix metallopeptidase 9 gene DOID:4947 cholangiocarcinoma ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:15213623|REF_RGD_ID:2324667 12008550 MMP9 matrix metallopeptidase 9 gene DOID:4947 cholangiocarcinoma ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:15213623|REF_RGD_ID:2324667 12008550 MMP9 matrix metallopeptidase 9 gene DOID:520 aortic disease ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15545515 12008550 MMP9 matrix metallopeptidase 9 gene DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:sural nerve PMID:10408538|REF_RGD_ID:13204856 12008550 MMP9 matrix metallopeptidase 9 gene DOID:5517 stomach carcinoma ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:stomach PMID:20434464|REF_RGD_ID:2325777 12008550 MMP9 matrix metallopeptidase 9 gene DOID:552 pneumonia ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:18007984|REF_RGD_ID:5130157 12008550 MMP9 matrix metallopeptidase 9 gene DOID:557 kidney disease ISO RGD:621320 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:17392157|REF_RGD_ID:1642041 12008550 MMP9 matrix metallopeptidase 9 gene DOID:5679 retinal disease ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 12008550 MMP9 matrix metallopeptidase 9 gene DOID:5773 oral submucous fibrosis ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 12008550 MMP9 matrix metallopeptidase 9 gene DOID:5844 myocardial infarction ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16310260|PMID:24358288 12008550 MMP9 matrix metallopeptidase 9 gene DOID:5844 myocardial infarction ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:coronary artery, plasma (human) PMID:15118287|REF_RGD_ID:1582645 12008550 MMP9 matrix metallopeptidase 9 gene DOID:5844 myocardial infarction ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:16845718|REF_RGD_ID:1582653 12008550 MMP9 matrix metallopeptidase 9 gene DOID:5844 myocardial infarction ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:heart left ventricle (rat) PMID:8531210|REF_RGD_ID:7207198 12008550 MMP9 matrix metallopeptidase 9 gene DOID:5844 myocardial infarction ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:14729404|REF_RGD_ID:1582639 12008550 MMP9 matrix metallopeptidase 9 gene DOID:5844 myocardial infarction ISO RGD:731911 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle PMID:25520329|REF_RGD_ID:13204799 12008550 MMP9 matrix metallopeptidase 9 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:snps:promoter, exon:g.-1562C>T, p.R279Q (rs3918242, rs2664538) (human) PMID:17893005|REF_RGD_ID:7207049 12008550 MMP9 matrix metallopeptidase 9 gene DOID:6000 congestive heart failure ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16952784|REF_RGD_ID:1582647 12008550 MMP9 matrix metallopeptidase 9 gene DOID:6000 congestive heart failure ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle, plasma PMID:20606426|REF_RGD_ID:8694112 12008550 MMP9 matrix metallopeptidase 9 gene DOID:6000 congestive heart failure ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:11342481|REF_RGD_ID:7207137 12008550 MMP9 matrix metallopeptidase 9 gene DOID:6000 congestive heart failure ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary; protein:increased expression:heart PMID:17913382|REF_RGD_ID:5130174 12008550 MMP9 matrix metallopeptidase 9 gene DOID:630 genetic disease ISO RGD:1348437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12008550 MMP9 matrix metallopeptidase 9 gene DOID:6432 pulmonary hypertension ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:21063214|REF_RGD_ID:5129210 12008550 MMP9 matrix metallopeptidase 9 gene DOID:6432 pulmonary hypertension ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Heart Failure, Congestive;protein:decreased expression:monocyte PMID:16867026|REF_RGD_ID:1642028 12008550 MMP9 matrix metallopeptidase 9 gene DOID:6432 pulmonary hypertension ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23087098|REF_RGD_ID:7207217 12008550 MMP9 matrix metallopeptidase 9 gene DOID:6432 pulmonary hypertension ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Pulmonary Embolism;protein:increased expression:lung, plasma PMID:17133179|REF_RGD_ID:1642053 12008550 MMP9 matrix metallopeptidase 9 gene DOID:6432 pulmonary hypertension severity ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:18355767|REF_RGD_ID:5130155 12008550 MMP9 matrix metallopeptidase 9 gene DOID:646 viral encephalitis ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with influenza; protein:increased expression:serum PMID:17529876|REF_RGD_ID:5130920 12008550 MMP9 matrix metallopeptidase 9 gene DOID:6688 autoimmune lymphoproliferative syndrome disease_progression ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:21376533|REF_RGD_ID:13204846 12008550 MMP9 matrix metallopeptidase 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20084675 12008550 MMP9 matrix metallopeptidase 9 gene DOID:684 hepatocellular carcinoma ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:21681821|REF_RGD_ID:8547864 12008550 MMP9 matrix metallopeptidase 9 gene DOID:7148 rheumatoid arthritis ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16406300|REF_RGD_ID:1582623 12008550 MMP9 matrix metallopeptidase 9 gene DOID:769 neuroblastoma ISO RGD:1348437 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 12008550 MMP9 matrix metallopeptidase 9 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17196988 12008550 MMP9 matrix metallopeptidase 9 gene DOID:7693 abdominal aortic aneurysm severity ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16432074|REF_RGD_ID:1582641 12008550 MMP9 matrix metallopeptidase 9 gene DOID:7693 abdominal aortic aneurysm treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:21256058|REF_RGD_ID:13207313 12008550 MMP9 matrix metallopeptidase 9 gene DOID:799 varicose veins ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16465063|REF_RGD_ID:1582620 12008550 MMP9 matrix metallopeptidase 9 gene DOID:820 myocarditis ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:16533694|REF_RGD_ID:1582352 12008550 MMP9 matrix metallopeptidase 9 gene DOID:824 periodontitis ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22808498|PMID:24640096 12008550 MMP9 matrix metallopeptidase 9 gene DOID:8398 osteoarthritis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:synovial fluid, serum (human) PMID:15194590|REF_RGD_ID:7207131 12008550 MMP9 matrix metallopeptidase 9 gene DOID:8440 ileus ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:jejunum, colon, peritoneal fluid PMID:23079570|REF_RGD_ID:8547906 12008550 MMP9 matrix metallopeptidase 9 gene DOID:850 lung disease ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:bronchoalveolar lavage fluid PMID:20335295|REF_RGD_ID:5129490 12008550 MMP9 matrix metallopeptidase 9 gene DOID:850 lung disease ISO RGD:621320 D RGD:9068941 20200609 RGD lung injury associated with pancreatitis, acute necrotizing PMID:19494493|REF_RGD_ID:5129548 12008550 MMP9 matrix metallopeptidase 9 gene DOID:850 lung disease ISO RGD:621320 D RGD:9068941 20200609 RGD lung injury; mRNA, protein:increased expression:lung PMID:19545667|REF_RGD_ID:5129531 12008550 MMP9 matrix metallopeptidase 9 gene DOID:850 lung disease ISO RGD:731911 D RGD:9068941 20200609 RGD Ventilator-Induced Lung Injury PMID:18223162|REF_RGD_ID:5130156 12008550 MMP9 matrix metallopeptidase 9 gene DOID:8506 bullous pemphigoid ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:9687525|REF_RGD_ID:8547843 12008550 MMP9 matrix metallopeptidase 9 gene DOID:8549 chronic ulcer of skin susceptibility ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic in males;DNA:SNP:promoter:-1562C>T (rs3918242) (human) PMID:21455563|REF_RGD_ID:8547865 12008550 MMP9 matrix metallopeptidase 9 gene DOID:8553 pyoderma gangrenosum ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:21658319|REF_RGD_ID:8657060 12008550 MMP9 matrix metallopeptidase 9 gene DOID:8577 ulcerative colitis ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22119283 12008550 MMP9 matrix metallopeptidase 9 gene DOID:869 cholesteatoma ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:19484988|REF_RGD_ID:8657059 12008550 MMP9 matrix metallopeptidase 9 gene DOID:874 bacterial pneumonia ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:bronchoalveolar lavage fluid PMID:19535150|REF_RGD_ID:5129533 12008550 MMP9 matrix metallopeptidase 9 gene DOID:874 bacterial pneumonia ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:17202364|REF_RGD_ID:5130727 12008550 MMP9 matrix metallopeptidase 9 gene DOID:8869 neuromyelitis optica ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21621856|REF_RGD_ID:8547883 12008550 MMP9 matrix metallopeptidase 9 gene DOID:8881 rosacea ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:tear PMID:10509643|REF_RGD_ID:8547821 12008550 MMP9 matrix metallopeptidase 9 gene DOID:8923 skin melanoma ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:12404291|REF_RGD_ID:13204786 12008550 MMP9 matrix metallopeptidase 9 gene DOID:8923 skin melanoma disease progression ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNP, missense mutations:promoter, cds:-1562C>T,p.R279Q, p.P574R (human) PMID:17346338|REF_RGD_ID:8547886 12008550 MMP9 matrix metallopeptidase 9 gene DOID:8947 diabetic retinopathy ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16643893|REF_RGD_ID:1582616 12008550 MMP9 matrix metallopeptidase 9 gene DOID:8947 diabetic retinopathy ISO RGD:731911 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21933988|REF_RGD_ID:8547857 12008550 MMP9 matrix metallopeptidase 9 gene DOID:8947 diabetic retinopathy disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:10374894|REF_RGD_ID:8547815 12008550 MMP9 matrix metallopeptidase 9 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:10644865|REF_RGD_ID:7207194 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:25763638|REF_RGD_ID:12791993 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Endometrial Neoplasms;protein:increased expression:endometrium PMID:12487935|REF_RGD_ID:2298523 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Carcinoma, Non-Small-Cell Lung;protein:increased expression:serum PMID:20704821|REF_RGD_ID:5129215 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Tongue Neoplasms PMID:23107277|REF_RGD_ID:8547824 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9000099 Experimental Colitis treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23323009|REF_RGD_ID:13207328 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:17371820|REF_RGD_ID:1642043 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9000113 Pneumococcal Meningitis treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:24419461|REF_RGD_ID:8657111 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1348437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9000403 Animal Mammary Neoplasms treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:23714264|REF_RGD_ID:8547831 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27157545 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:17410600|REF_RGD_ID:1642039 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:19940022|REF_RGD_ID:5129522 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9000784 Fibrosis ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:20108118|REF_RGD_ID:2325790 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9000787 Tachycardia, Atrioventricular Nodal Reentry treatment ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:15175065|REF_RGD_ID:13204852 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9000806 Metaphyseal Anadysplasia 2 ISO RGD:1348437 D RGD:7240710 20180130 OMIM 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9000806 Metaphyseal Anadysplasia 2 ISO RGD:1348437 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Metaphyseal anadysplasia 2 PMID:16631427|PMID:18035073|PMID:19615667|PMID:20605480|PMID:22942228|PMID:25741868|PMID:26207422|PMID:26489027|PMID:28492532|PMID:34407464 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9000918 Disease Progression ISO RGD:1348437 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9000955 Acute Otitis Media ISO RGD:731911 D RGD:9068941 20210611 RGD mRNA:increased expression:middle ear (mouse) PMID:21889218|REF_RGD_ID:127284853 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Melanoma PMID:16033831|REF_RGD_ID:8547861 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with skin melanoma;DNA:missense mutation:cds:p.Q279R (human) PMID:17346338|REF_RGD_ID:8547886 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348437 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:15659795|PMID:16475674|PMID:18930813|PMID:21209944|PMID:21942447|PMID:34626302 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:8912869|REF_RGD_ID:8547928 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Animal;protein:increased expression:brain PMID:16158251|REF_RGD_ID:8547884 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731911 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Animal PMID:18676849|REF_RGD_ID:8547878 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731911 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Animal; associated with Arthritis, Experimental PMID:21859454|REF_RGD_ID:5510000 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with carcinoma, pancreatic ductal; protein:increased expression:pancreas PMID:17378244|REF_RGD_ID:2325855 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with pancreatic cancer; protein:increased expression, increased activity:pancreas PMID:12173379|REF_RGD_ID:2325749 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis severity ISO RGD:1348437 D RGD:9068941 20220428 RGD associated with osteosarcoma;protein:increased expression:bone (human) PMID:26546437|REF_RGD_ID:152023746 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9000998 Brain Injuries ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19631748 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9000998 Brain Injuries ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:16671440|REF_RGD_ID:1582656 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9000998 Brain Injuries treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:24661104|REF_RGD_ID:13207312 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9001004 Chronic Periodontitis treatment ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Atherosclerosis PMID:24820783|REF_RGD_ID:13207324 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9001044 Choroidal Neovascularization ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17304258|REF_RGD_ID:8657061 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9001044 Choroidal Neovascularization ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:12368198|REF_RGD_ID:8547840 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:25314292|REF_RGD_ID:13207327 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9001193 Metaphyseal Anadysplasia ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.M1K (c.21T>A)(human) PMID:19615667|REF_RGD_ID:13204811 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:17374579|REF_RGD_ID:1642042 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9001472 Nasal Polyps ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Rhinosinusitis;mRNA:increased expression:nasal cavity mucosa PMID:23064462|REF_RGD_ID:8549735 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9001472 Nasal Polyps disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:23987197|REF_RGD_ID:8657056 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9001472 Nasal Polyps susceptibility ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Asthma, Aspirin-Induced; DNA:polymorphism:promoter: -1562C>T (human) PMID:19958602|REF_RGD_ID:5130861 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9001488 Human Influenza ISO RGD:731911 D RGD:9068941 20200609 RGD protein:increased activity:lung, heart, brain PMID:20299740|REF_RGD_ID:5130855 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9001542 Albuminuria onset ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; protein:increased expression:plasma (human) PMID:9774113|REF_RGD_ID:7207214 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15095483 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:19528495|REF_RGD_ID:2325736 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:liver PMID:19539802|REF_RGD_ID:2325734 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9001627 Pathologic Constriction susceptibility ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16159601|REF_RGD_ID:1582642 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20981132 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9002056 Arterial Injury treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:22552115|REF_RGD_ID:6484736 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Fatty Liver;mRNA, protein:decreased expression, decreased activity:liver PMID:17255325|REF_RGD_ID:8547976 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:repeat:promoter PMID:11576356|REF_RGD_ID:8547866 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23384615|REF_RGD_ID:13204971 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9002221 Hyperplasia ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15728660 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16606632 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9002457 Experimental Arthritis ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:cartilage, serum, synovial fluid PMID:17463159|REF_RGD_ID:1642035 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9002467 Mycoplasma Infections ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:17217365|REF_RGD_ID:1642046 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9002514 Neointima ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17964422 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9002514 Neointima treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23344254|REF_RGD_ID:13207403 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9002522 Embolism ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16720380|REF_RGD_ID:1582655 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14630814|PMID:15488484|PMID:15529013|PMID:16190367|PMID:19095969 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:17021183|REF_RGD_ID:1582637 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:9549496|REF_RGD_ID:8547909 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:731911 D RGD:9068941 20200609 RGD protein:increased expression:multiple tissues PMID:20810258|REF_RGD_ID:13204762 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:22800566|REF_RGD_ID:8547936 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:24797785|REF_RGD_ID:13204801 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9002884 Emphysema treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:22633097|REF_RGD_ID:13207325 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9002906 Multiple Organ Failure ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15259001 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9002906 Multiple Organ Failure ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:multiple tissues PMID:21964536|REF_RGD_ID:8547897 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9002906 Multiple Organ Failure ISO RGD:731911 D RGD:9068941 20200609 RGD protein:increased activity:liver, lung, spleen (mouse) PMID:15259001|REF_RGD_ID:7207133 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9002928 Colonic Neoplasms ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15725655 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9002928 Colonic Neoplasms ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:large intestine mucosa PMID:21268133|REF_RGD_ID:5135051 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9002928 Colonic Neoplasms disease_progression ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:20428773|REF_RGD_ID:2325778 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9003139 Cardiac Fibrosis ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Arthritis, Experimental PMID:23905389|REF_RGD_ID:13204857 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9003139 Cardiac Fibrosis ISO RGD:731911 D RGD:9068941 20200609 RGD associated with Cardiomegaly;mRNA:increased expression:heart PMID:23144938|REF_RGD_ID:13204817 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9003157 Respiratory Sounds ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:brochoalveolar lavage fluid PMID:18391843|REF_RGD_ID:5130916 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9003386 Sunburn susceptibility ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with skin melanoma;DNA:missense mutations:cds:p.Q279R, p.R668Q (human) PMID:17346338|REF_RGD_ID:8547886 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9003507 Premature Birth ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24429678 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9003613 Laryngeal Neoplasms ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:17786346|REF_RGD_ID:5130203 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa: PMID:19786210|REF_RGD_ID:5130872 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased activity:urine (human) PMID:17898039|REF_RGD_ID:7207083 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:731911 D RGD:9068941 20200609 RGD protein:increased activity:brain PMID:15364410|REF_RGD_ID:8547868 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9003870 Herpes Simplex Encephalitis treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:20483026|REF_RGD_ID:8547867 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9003871 Venous Thrombosis ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA:increased expression:femoral vein (rat) PMID:20515599|REF_RGD_ID:2325775 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9003871 Venous Thrombosis ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:16920980|REF_RGD_ID:1582648 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9003936 Cardiomegaly ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:17207419|REF_RGD_ID:1642047 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9004009 Reperfusion Injury ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9004009 Reperfusion Injury ISO RGD:621320 D RGD:9068941 20200609 RGD associated with lung injury; mRNA, protein:increased expression:lung PMID:19545667|REF_RGD_ID:5129531 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9004009 Reperfusion Injury ISO RGD:731911 D RGD:9068941 20210924 RGD PMID:16551680|REF_RGD_ID:1582618 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9004009 Reperfusion Injury ISO RGD:731911 D RGD:9068941 20210924 RGD protein:increased expression:limb muscle (mouse) PMID:16251419|REF_RGD_ID:1582631 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9004080 Aortic Rupture ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18178469 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9004237 Hyperoxic Lung Injury treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:25760549|REF_RGD_ID:13204816 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9004389 Bone Neoplasms ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16475674 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9004464 Skin Neoplasms ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9004484 Sepsis ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16003065 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9004484 Sepsis treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23479197|REF_RGD_ID:8657110 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19617202|PMID:19700239|PMID:20188714|PMID:21187089|PMID:22503731|PMID:23867902|PMID:24333868 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9004610 Acute Lung Injury ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23040778|REF_RGD_ID:13207316 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9004739 Cicatrix treatment ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Wounds, Penetrating PMID:23076999|REF_RGD_ID:13207326 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9005172 Lung Neoplasms ISO RGD:1348437 D RGD:9068941 20200609 RGD Pulmonary Sclerosing Hemangioma; mRNA, protein:increased expression:lung PMID:17914564|REF_RGD_ID:5130173 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9005172 Lung Neoplasms ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with lung disease; protein:decreased expression:pleural fluid PMID:20216542|REF_RGD_ID:5129491 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21283680 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:mammary gland PMID:19725228|REF_RGD_ID:2325823 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:23359979|REF_RGD_ID:8657038 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9005269 Stable Angina ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20981132 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9005372 Inflammation ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24429678|PMID:24795235 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9005372 Inflammation ISO RGD:731911 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:16489579|REF_RGD_ID:8547835 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16280123|REF_RGD_ID:1642031 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9005605 Arteriovenous Fistula ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:17398390|REF_RGD_ID:1642040 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9005605 Arteriovenous Fistula treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:23924957|REF_RGD_ID:13204800 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21963884|PMID:22191573 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:23423566|REF_RGD_ID:8547881 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17569353|REF_RGD_ID:2290354 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:23423566|REF_RGD_ID:8547881 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23089644|REF_RGD_ID:8547974 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9005941 Rhinosinusitis ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:23401274|REF_RGD_ID:8547880 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary; protein:increased expression:heart PMID:17913382|REF_RGD_ID:5130174 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9006182 Carotid Artery Injuries ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:9327785|REF_RGD_ID:8547910 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9006205 Animal Disease Models ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21051829 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:9546322|REF_RGD_ID:9685357 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9006827 Lung Reperfusion Injury ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased activity:lung PMID:18694576|REF_RGD_ID:5129703 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:16384971|REF_RGD_ID:8547891 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9007096 Stroke ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16690896|REF_RGD_ID:1582615 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9007096 Stroke ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:16051896|REF_RGD_ID:1582635 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9007096 Stroke ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:brain, plasma PMID:19556529|REF_RGD_ID:2325825 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22507835 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9007480 Hyperoxia ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression, decreased activity:lung PMID:15128910|REF_RGD_ID:8547972 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9007480 Hyperoxia ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:18658276|REF_RGD_ID:5130148 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9007590 Gouty Arthritis severity ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:14687896|REF_RGD_ID:8547877 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1348437 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:14700523|PMID:19617202|PMID:22011395|PMID:30090327 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9007730 Burns ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:17156757|REF_RGD_ID:1642051 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9007871 Malignant Pleural Effusions ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with pleurisy; protein:decreased activity:pleura PMID:17611666|REF_RGD_ID:5130711 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9007889 Nephrogenic Fibrosing Dermopathy ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:skin (human) PMID:20708474|REF_RGD_ID:7207047 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9007956 Febrile Seizures ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with influenza; protein:increased expression:serum PMID:17529876|REF_RGD_ID:5130920 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, intron, cds:-1590C>T, 2127G>T, p.R668Q (rs3918242, rs2274755, rs17577) (human) PMID:22237587|REF_RGD_ID:8547819 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9008212 Diabetic Foot severity ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:22688339|REF_RGD_ID:8547813 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9008225 Respirovirus Infections ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:lung PMID:16816895|REF_RGD_ID:5130923 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:22459050|REF_RGD_ID:8547829 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9008443 Colorectal Neoplasms treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23149858|REF_RGD_ID:8657112 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9008537 Polypoidal Choroidal Vasculopathy ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:23559867|REF_RGD_ID:8547885 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9008691 Liver Injury ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:10933221|REF_RGD_ID:7207088 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9008914 Lead Poisoning ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16700817 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9008939 Breast Neoplasms ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19617202 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9008939 Breast Neoplasms ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:21159820|REF_RGD_ID:8547837 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9008939 Breast Neoplasms ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:rs17577, rs3787268 (human) PMID:23570558|REF_RGD_ID:8547827 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:15538048|PMID:21151179|REF_RGD_ID:8547818|REF_RGD_ID:8547839 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18172859|REF_RGD_ID:2290343 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9008939 Breast Neoplasms no_association ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, CDS:rs3918241, rs2274756 (p.R668Q) (human) PMID:20725776|REF_RGD_ID:8547893 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9256 colorectal cancer ISO RGD:1348437 D RGD:9068941 20220609 RGD mRNA:increased expresion:colorectum (human) PMID:21839130|REF_RGD_ID:152985531 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9256 colorectal cancer treatment ISO RGD:1348437 D RGD:9068941 20220728 RGD human cells in mouse model PMID:32682784|REF_RGD_ID:153297782 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:24739303|REF_RGD_ID:13204791 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9282 ocular hypertension ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:eye PMID:19575923|REF_RGD_ID:2325732 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18552985|REF_RGD_ID:8547849 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:17320450|REF_RGD_ID:7207195 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23204894|REF_RGD_ID:8694120 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9470 bacterial meningitis ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:10430840|REF_RGD_ID:8547971 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9477 pulmonary embolism ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:16304337|REF_RGD_ID:1582630 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9563 bronchiectasis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:19725099|REF_RGD_ID:5129526 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9675 pulmonary emphysema ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25106431 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9675 pulmonary emphysema ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:18408070|REF_RGD_ID:5130151 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9675 pulmonary emphysema ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased activity:lung PMID:19897563|REF_RGD_ID:4892307 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9675 pulmonary emphysema treatment ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:14605041|REF_RGD_ID:8547887 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9743 diabetic neuropathy ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20213226 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9744 type 1 diabetes mellitus ISO RGD:731911 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:23632630|REF_RGD_ID:13204760 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9970 obesity ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21156398 12008550 MMP9 matrix metallopeptidase 9 gene DOID:9970 obesity ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17512313|REF_RGD_ID:1642026 12008568 KIAA0586 KIAA0586 ortholog gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1323087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868 12008568 KIAA0586 KIAA0586 ortholog gene DOID:0050777 Joubert syndrome ISO RGD:1323087 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:20301500|PMID:24033266|PMID:25741868|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28125082|PMID:28492532|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362 12008568 KIAA0586 KIAA0586 ortholog gene DOID:0050778 Meckel syndrome ISO RGD:1323087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome 12008568 KIAA0586 KIAA0586 ortholog gene DOID:0070338 cerebellar hypoplasia ISO RGD:1323087 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:20301500|PMID:24033266|PMID:25741868|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28125082|PMID:28492532|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362 12008568 KIAA0586 KIAA0586 ortholog gene DOID:0110096 short-rib thoracic dysplasia 14 with polydactyly ISO RGD:1323087 D RGD:7240710 20180130 OMIM 12008568 KIAA0586 KIAA0586 ortholog gene DOID:0110096 short-rib thoracic dysplasia 14 with polydactyly ISO RGD:1323087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 14 with polydactyly PMID:17576681|PMID:20301500|PMID:2080096|PMID:24033266|PMID:25741868|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28125082|PMID:28492532|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362|PMID:9536098 12008568 KIAA0586 KIAA0586 ortholog gene DOID:0110992 Joubert syndrome 23 ISO RGD:1323087 D RGD:7240710 20180130 OMIM 12008568 KIAA0586 KIAA0586 ortholog gene DOID:0110992 Joubert syndrome 23 ISO RGD:1323087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 23 PMID:16199547|PMID:17576681|PMID:20301500|PMID:2080096|PMID:24033266|PMID:25640679|PMID:25741868|PMID:25954003|PMID:26026149|PMID:2609613|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:26938784|PMID:27618451|PMID:28125082|PMID:28490743|PMID:28492532|PMID:28497568|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362|PMID:9536098 12008568 KIAA0586 KIAA0586 ortholog gene DOID:1148 polydactyly ISO RGD:1323087 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15554946 12008568 KIAA0586 KIAA0586 ortholog gene DOID:630 genetic disease ISO RGD:1323087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25954003|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:27618451|PMID:28490743|PMID:28492532 12008568 KIAA0586 KIAA0586 ortholog gene DOID:8501 fundus dystrophy ISO RGD:1323087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20301500|PMID:24033266|PMID:25741868|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28125082|PMID:28492532|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362 12008568 KIAA0586 KIAA0586 ortholog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:32581362 12008568 KIAA0586 KIAA0586 ortholog gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1323087 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15554946 12008621 TXNDC5 thioredoxin domain containing 5 gene DOID:0080600 COVID-19 ISO RGD:1313292 D RGD:9068941 20200709 RGD mRNA:decreased expression:antibody secreting B cells (human) PMID:32377375|REF_RGD_ID:32716422 12008621 TXNDC5 thioredoxin domain containing 5 gene DOID:630 genetic disease ISO RGD:1313292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008621 TXNDC5 thioredoxin domain containing 5 gene DOID:7148 rheumatoid arthritis ISO RGD:1313292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326410 12008621 TXNDC5 thioredoxin domain containing 5 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 12008621 TXNDC5 thioredoxin domain containing 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12008621 TXNDC5 thioredoxin domain containing 5 gene DOID:9002457 Experimental Arthritis ISO RGD:1313292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326410 12008635 CHRNG cholinergic receptor nicotinic gamma subunit gene DOID:0060249 scoliosis ISO RGD:732695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:15704180|PMID:16826520|PMID:22167768|PMID:25741868|PMID:28492532|PMID:31680349 12008635 CHRNG cholinergic receptor nicotinic gamma subunit gene DOID:0060476 Perlman syndrome ISO RGD:732695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12008635 CHRNG cholinergic receptor nicotinic gamma subunit gene DOID:0080006 bone development disease ISO RGD:732695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16826531 12008635 CHRNG cholinergic receptor nicotinic gamma subunit gene DOID:0080110 contractures, pterygia, and spondylocarpotarsal fusion syndrome ISO RGD:732695 D RGD:7240710 20180130 OMIM 12008635 CHRNG cholinergic receptor nicotinic gamma subunit gene DOID:0080110 contractures, pterygia, and spondylocarpotarsal fusion syndrome ISO RGD:732695 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pterygium universale PMID:16826520|PMID:16826531|PMID:22167768|PMID:24038971|PMID:24254455|PMID:25608830|PMID:25741868|PMID:25957469|PMID:26578207|PMID:26752647|PMID:27245440|PMID:28492532|PMID:30868735|PMID:31230720|PMID:33060286|PMID:34440395 12008635 CHRNG cholinergic receptor nicotinic gamma subunit gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:732695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16826520|PMID:16826531 12008635 CHRNG cholinergic receptor nicotinic gamma subunit gene DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B ISO RGD:732695 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome PMID:15704180|PMID:16826520|PMID:16826531|PMID:22167768|PMID:24038971|PMID:24254455|PMID:24319099|PMID:25326635|PMID:25411939|PMID:25608830|PMID:25741868|PMID:25957469|PMID:26578207|PMID:26752647|PMID:27245440|PMID:28492532|PMID:30868735|PMID:31230720|PMID:31354645|PMID:31680349|PMID:32901917|PMID:33060286|PMID:34008892|PMID:34440395 12008635 CHRNG cholinergic receptor nicotinic gamma subunit gene DOID:0110991 Joubert syndrome 22 ISO RGD:732695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12008635 CHRNG cholinergic receptor nicotinic gamma subunit gene DOID:3635 congenital myasthenic syndrome ISO RGD:732695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:25741868 12008635 CHRNG cholinergic receptor nicotinic gamma subunit gene DOID:574 peripheral nervous system disease ISO RGD:732695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:26752647 12008635 CHRNG cholinergic receptor nicotinic gamma subunit gene DOID:630 genetic disease ISO RGD:732695 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16826520|PMID:16826531|PMID:22167768|PMID:24038971|PMID:25326635|PMID:25608830|PMID:25741868|PMID:25957469|PMID:26752647|PMID:27245440|PMID:28492532|PMID:31230720 12008635 CHRNG cholinergic receptor nicotinic gamma subunit gene DOID:7148 rheumatoid arthritis ISO RGD:732695 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis PMID:23261301 12008635 CHRNG cholinergic receptor nicotinic gamma subunit gene DOID:870 neuropathy ISO RGD:732695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:26752647 12008635 CHRNG cholinergic receptor nicotinic gamma subunit gene DOID:9005962 Multiple Pterygium Syndrome, Lethal Type ISO RGD:732695 D RGD:7240710 20180130 OMIM 12008635 CHRNG cholinergic receptor nicotinic gamma subunit gene DOID:9005962 Multiple Pterygium Syndrome, Lethal Type ISO RGD:732695 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:16826520|PMID:16826531|PMID:22167768|PMID:24038971|PMID:24254455|PMID:24319099|PMID:25411939|PMID:25608830|PMID:25741868|PMID:25957469|PMID:26578207|PMID:26752647|PMID:27245440|PMID:28492532|PMID:30868735|PMID:31230720|PMID:32901917|PMID:33060286|PMID:34008892|PMID:34440395 12008654 CCDC150 coiled-coil domain containing 150 gene DOID:630 genetic disease ISO RGD:1606406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008654 CCDC150 coiled-coil domain containing 150 gene DOID:684 hepatocellular carcinoma ISO RGD:1606406 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 12008654 CCDC150 coiled-coil domain containing 150 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12008685 MCCD1 mitochondrial coiled-coil domain 1 gene DOID:0050553 JMP syndrome ISO RGD:1352481 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12008685 MCCD1 mitochondrial coiled-coil domain 1 gene DOID:11372 megacolon ISO RGD:1352481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12008685 MCCD1 mitochondrial coiled-coil domain 1 gene DOID:630 genetic disease ISO RGD:1352481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008691 IGF1 insulin like growth factor 1 gene DOID:0050328 congenital hypothyroidism ISO RGD:2868 D RGD:9068941 20200609 RGD protein:decreased expression:serum (rat) PMID:1718729|REF_RGD_ID:12910128 12008691 IGF1 insulin like growth factor 1 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebellum (rat) PMID:16909201|REF_RGD_ID:12904886 12008691 IGF1 insulin like growth factor 1 gene DOID:0050827 rheumatic heart disease ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16406300|REF_RGD_ID:1582623 12008691 IGF1 insulin like growth factor 1 gene DOID:0060180 colitis ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24782617 12008691 IGF1 insulin like growth factor 1 gene DOID:0080038 pycnodysostosis ISO RGD:70506 D RGD:9068941 20200609 RGD associated with Dwarfism; PMID:11474477|REF_RGD_ID:8548826 12008691 IGF1 insulin like growth factor 1 gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:2868 D RGD:9068941 20200609 RGD associated with Fetal Growth Retardation;mRNA:increased expression:liver (rat) PMID:24275070|REF_RGD_ID:12904726 12008691 IGF1 insulin like growth factor 1 gene DOID:0080539 PEHO syndrome ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid: PMID:11701291|REF_RGD_ID:8548849 12008691 IGF1 insulin like growth factor 1 gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:19207313|REF_RGD_ID:12910858 12008691 IGF1 insulin like growth factor 1 gene DOID:0081120 Graves ophthalmopathy ISO RGD:70506 D RGD:9068941 20200609 RGD mRNA,protein:increased expression,increased excretion:orbital tissue: PMID:22159761|REF_RGD_ID:8548854 12008691 IGF1 insulin like growth factor 1 gene DOID:10124 corneal disease ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12824234 12008691 IGF1 insulin like growth factor 1 gene DOID:1059 intellectual disability ISO RGD:70506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12008691 IGF1 insulin like growth factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:10765 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus: PMID:23740209|REF_RGD_ID:10045852 12008691 IGF1 insulin like growth factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15750215 12008691 IGF1 insulin like growth factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:70506 D RGD:9068941 20200609 RGD protein:altered expression:plasma,cerebral spinal fluid: PMID:24301648|REF_RGD_ID:10045853 12008691 IGF1 insulin like growth factor 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:10765 D RGD:9068941 20200609 RGD protein:altered expression:plasma,cerebral spinal fluid: PMID:24301648|REF_RGD_ID:10045853 12008691 IGF1 insulin like growth factor 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:24054991|REF_RGD_ID:10045860 12008691 IGF1 insulin like growth factor 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:70506 D RGD:9068941 20200609 RGD DNA:polymorphism:intron: rs972936(human) PMID:23089282|REF_RGD_ID:10045854 12008691 IGF1 insulin like growth factor 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:10399774|REF_RGD_ID:10402576 12008691 IGF1 insulin like growth factor 1 gene DOID:10763 hypertension ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:15996002|REF_RGD_ID:1580474 12008691 IGF1 insulin like growth factor 1 gene DOID:10763 hypertension ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta (rat) PMID:8418983|REF_RGD_ID:12904968 12008691 IGF1 insulin like growth factor 1 gene DOID:10763 hypertension ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19502719|PMID:22228705 12008691 IGF1 insulin like growth factor 1 gene DOID:10763 hypertension severity ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16431135|REF_RGD_ID:1598427 12008691 IGF1 insulin like growth factor 1 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:70506 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:endothelial cell: PMID:12714661|REF_RGD_ID:10045893 12008691 IGF1 insulin like growth factor 1 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor of eyeball: PMID:24106111|REF_RGD_ID:10045867 12008691 IGF1 insulin like growth factor 1 gene DOID:10907 microcephaly ISO RGD:70506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12008691 IGF1 insulin like growth factor 1 gene DOID:11054 urinary bladder cancer ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19415693 12008691 IGF1 insulin like growth factor 1 gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20013271|REF_RGD_ID:10755701 12008691 IGF1 insulin like growth factor 1 gene DOID:11476 osteoporosis ISO RGD:10765 D RGD:9068941 20200609 RGD PMID:10499542|REF_RGD_ID:10003127 12008691 IGF1 insulin like growth factor 1 gene DOID:11476 osteoporosis ISO RGD:2868 D RGD:9068941 20200609 RGD associated with Cholestasis PMID:19424739|REF_RGD_ID:10003131 12008691 IGF1 insulin like growth factor 1 gene DOID:11476 osteoporosis ISO RGD:2868 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:1466160|REF_RGD_ID:10003132 12008691 IGF1 insulin like growth factor 1 gene DOID:11476 osteoporosis treatment ISO RGD:2868 D RGD:9068941 20200609 RGD associated with Uremia;protein:altered expression:osteoblast, osteoclast, chondroblast PMID:17647196|REF_RGD_ID:10003128 12008691 IGF1 insulin like growth factor 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:15653207|REF_RGD_ID:8549491 12008691 IGF1 insulin like growth factor 1 gene DOID:11830 myopia no_association ISO RGD:70506 D RGD:9068941 20200609 RGD DNA:SNPS: :rs10860860, rs2946834,rs6214(human) PMID:21976954|REF_RGD_ID:8548829 12008691 IGF1 insulin like growth factor 1 gene DOID:11830 myopia susceptibility ISO RGD:70506 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: : rs12423791,rs5742629(human) PMID:22509095|REF_RGD_ID:8548838 12008691 IGF1 insulin like growth factor 1 gene DOID:11830 myopia susceptibility ISO RGD:70506 D RGD:9068941 20200609 RGD DNA:SNPS: :rs10860860, rs2946834,rs6214(human) PMID:20435602|REF_RGD_ID:8548828 12008691 IGF1 insulin like growth factor 1 gene DOID:11830 myopia susceptibility ISO RGD:70506 D RGD:9068941 20200609 RGD DNA:haplotype: :rs12423791,rs7956547,rs5742632(human) PMID:22332214|REF_RGD_ID:8548827 12008691 IGF1 insulin like growth factor 1 gene DOID:11984 hypertrophic cardiomyopathy severity ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:12135130|REF_RGD_ID:1598422 12008691 IGF1 insulin like growth factor 1 gene DOID:12132 granulomatosis with polyangiitis ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity mucosa, blood vessel: PMID:2772560|REF_RGD_ID:8548880 12008691 IGF1 insulin like growth factor 1 gene DOID:12361 Graves' disease ISO RGD:70506 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:thyroid gland: PMID:9857239|REF_RGD_ID:8548837 12008691 IGF1 insulin like growth factor 1 gene DOID:12689 acoustic neuroma susceptibility ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21788435|REF_RGD_ID:8548833 12008691 IGF1 insulin like growth factor 1 gene DOID:12849 autistic disorder ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17547689 12008691 IGF1 insulin like growth factor 1 gene DOID:12858 Huntington's disease ISO RGD:10765 D RGD:9068941 20200609 RGD PMID:23384443|PMID:25140802|REF_RGD_ID:10045865|REF_RGD_ID:10045870 12008691 IGF1 insulin like growth factor 1 gene DOID:12858 Huntington's disease treatment ISO RGD:70506 D RGD:9068941 20200609 RGD human protein in a rat model PMID:15371744|REF_RGD_ID:12904970 12008691 IGF1 insulin like growth factor 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:11934830|REF_RGD_ID:1598419 12008691 IGF1 insulin like growth factor 1 gene DOID:13025 retinopathy of prematurity ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina PMID:16500767|REF_RGD_ID:8548852 12008691 IGF1 insulin like growth factor 1 gene DOID:13025 retinopathy of prematurity ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:20085549|REF_RGD_ID:8548825 12008691 IGF1 insulin like growth factor 1 gene DOID:13025 retinopathy of prematurity no_association ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:20214047|REF_RGD_ID:8548867 12008691 IGF1 insulin like growth factor 1 gene DOID:13580 cholestasis ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:18607346|REF_RGD_ID:10046052 12008691 IGF1 insulin like growth factor 1 gene DOID:13580 cholestasis ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12826230 12008691 IGF1 insulin like growth factor 1 gene DOID:14026 folic acid deficiency anemia ISO RGD:2868 D RGD:9068941 20200609 RGD protein:decreased expression:serum, cranial bone (rat) PMID:16111879|REF_RGD_ID:12910463 12008691 IGF1 insulin like growth factor 1 gene DOID:14183 alcoholic neuropathy ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:23016131|REF_RGD_ID:10402569 12008691 IGF1 insulin like growth factor 1 gene DOID:1459 hypothyroidism ISO RGD:2868 D RGD:9068941 20200609 RGD protein:decreased expression:serum (rat) PMID:1380443|REF_RGD_ID:12910458 12008691 IGF1 insulin like growth factor 1 gene DOID:1485 cystic fibrosis ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:respiratory tract epithelium (rat) PMID:22461702|REF_RGD_ID:12904899 12008691 IGF1 insulin like growth factor 1 gene DOID:1612 breast cancer susceptibility ISO RGD:2868 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:17584969|REF_RGD_ID:2315650 12008691 IGF1 insulin like growth factor 1 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:70506 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:19064563|REF_RGD_ID:2306689 12008691 IGF1 insulin like growth factor 1 gene DOID:224 transient cerebral ischemia severity ISO RGD:2868 D RGD:9068941 20200609 RGD protein:decreased expression:serum (rat) PMID:25098324|REF_RGD_ID:12904924 12008691 IGF1 insulin like growth factor 1 gene DOID:2316 brain ischemia ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:16882007|REF_RGD_ID:1598411 12008691 IGF1 insulin like growth factor 1 gene DOID:2316 brain ischemia ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:19332057|REF_RGD_ID:2306694 12008691 IGF1 insulin like growth factor 1 gene DOID:2349 arteriosclerosis ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:15625284|REF_RGD_ID:2313768 12008691 IGF1 insulin like growth factor 1 gene DOID:2449 acromegaly ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1682667|PMID:18381583|PMID:18388193|PMID:9186818 12008691 IGF1 insulin like growth factor 1 gene DOID:289 endometriosis ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12008691 IGF1 insulin like growth factor 1 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:70506 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 12008691 IGF1 insulin like growth factor 1 gene DOID:2962 Cockayne syndrome ISO RGD:10765 D RGD:9068941 20200609 RGD PMID:17326724|REF_RGD_ID:10003139 12008691 IGF1 insulin like growth factor 1 gene DOID:2987 familial Mediterranean fever disease_progression ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:21428190|REF_RGD_ID:5508806 12008691 IGF1 insulin like growth factor 1 gene DOID:3021 acute kidney failure ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7540432 12008691 IGF1 insulin like growth factor 1 gene DOID:3070 high grade glioma severity ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21788435|REF_RGD_ID:8548833 12008691 IGF1 insulin like growth factor 1 gene DOID:3213 demyelinating disease ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9452187 12008691 IGF1 insulin like growth factor 1 gene DOID:3407 carotid artery disease ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16181175|REF_RGD_ID:1598446 12008691 IGF1 insulin like growth factor 1 gene DOID:3490 Noonan syndrome ISO RGD:10765 D RGD:9068941 20200609 RGD protein:decreased expression:serum (mouse) PMID:22371576|REF_RGD_ID:11352540 12008691 IGF1 insulin like growth factor 1 gene DOID:3490 Noonan syndrome treatment ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16263833|REF_RGD_ID:11063837 12008691 IGF1 insulin like growth factor 1 gene DOID:3491 Turner syndrome ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased activity:serum: PMID:17067837|REF_RGD_ID:12743588 12008691 IGF1 insulin like growth factor 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25257527 12008691 IGF1 insulin like growth factor 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:10765 D RGD:9068941 20200609 RGD PMID:20098680|REF_RGD_ID:2317639 12008691 IGF1 insulin like growth factor 1 gene DOID:3770 pulmonary fibrosis ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15286697 12008691 IGF1 insulin like growth factor 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart (rat) PMID:11409163|REF_RGD_ID:12904929 12008691 IGF1 insulin like growth factor 1 gene DOID:3911 progeria treatment ISO RGD:10765 D RGD:9068941 20200609 RGD PMID:20805469|REF_RGD_ID:10003141 12008691 IGF1 insulin like growth factor 1 gene DOID:4248 coronary stenosis ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA:increased expression:myocyte: PMID:8102103|REF_RGD_ID:10046053 12008691 IGF1 insulin like growth factor 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30594912 12008691 IGF1 insulin like growth factor 1 gene DOID:557 kidney disease ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8825380 12008691 IGF1 insulin like growth factor 1 gene DOID:574 peripheral nervous system disease ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8866126|PMID:9452187 12008691 IGF1 insulin like growth factor 1 gene DOID:5844 myocardial infarction ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium PMID:19295919|REF_RGD_ID:2306696 12008691 IGF1 insulin like growth factor 1 gene DOID:5844 myocardial infarction severity ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16635594|REF_RGD_ID:1598421 12008691 IGF1 insulin like growth factor 1 gene DOID:6000 congestive heart failure ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:12835956|REF_RGD_ID:1598415 12008691 IGF1 insulin like growth factor 1 gene DOID:6039 uveal melanoma disease_progression ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:23197685|REF_RGD_ID:8548834 12008691 IGF1 insulin like growth factor 1 gene DOID:630 genetic disease ISO RGD:70506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12008691 IGF1 insulin like growth factor 1 gene DOID:6543 acne ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:21054577|REF_RGD_ID:8549489 12008691 IGF1 insulin like growth factor 1 gene DOID:6543 acne ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:7608381|REF_RGD_ID:8549457 12008691 IGF1 insulin like growth factor 1 gene DOID:6543 acne no_association ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:9347796|REF_RGD_ID:8549499 12008691 IGF1 insulin like growth factor 1 gene DOID:657 adenoma ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1611713 12008691 IGF1 insulin like growth factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12008691 IGF1 insulin like growth factor 1 gene DOID:767 muscular atrophy ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18467435 12008691 IGF1 insulin like growth factor 1 gene DOID:783 end stage renal disease ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10198369 12008691 IGF1 insulin like growth factor 1 gene DOID:8398 osteoarthritis ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:blood: PMID:2290165|REF_RGD_ID:10045857 12008691 IGF1 insulin like growth factor 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:2868 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:19171036|REF_RGD_ID:2306713 12008691 IGF1 insulin like growth factor 1 gene DOID:8725 vascular dementia ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:hippocampus: PMID:22342912|REF_RGD_ID:10045864 12008691 IGF1 insulin like growth factor 1 gene DOID:8725 vascular dementia severity ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16181175|REF_RGD_ID:1598446 12008691 IGF1 insulin like growth factor 1 gene DOID:8778 Crohn's disease ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19751734 12008691 IGF1 insulin like growth factor 1 gene DOID:8893 psoriasis ISO RGD:70506 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:skin: PMID:21241374|REF_RGD_ID:8549492 12008691 IGF1 insulin like growth factor 1 gene DOID:8947 diabetic retinopathy ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17194636|REF_RGD_ID:2313764 12008691 IGF1 insulin like growth factor 1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16873705|REF_RGD_ID:1598424 12008691 IGF1 insulin like growth factor 1 gene DOID:9000121 Malocclusion disease_progression ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:22758598|REF_RGD_ID:10045831 12008691 IGF1 insulin like growth factor 1 gene DOID:9000146 Plaque, Atherosclerotic treatment ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:17916769|REF_RGD_ID:8548877 12008691 IGF1 insulin like growth factor 1 gene DOID:9000528 Coronary Disease ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:15521962|REF_RGD_ID:1626121 12008691 IGF1 insulin like growth factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18398872 12008691 IGF1 insulin like growth factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:70506 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:19375852|REF_RGD_ID:2317643 12008691 IGF1 insulin like growth factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:70506 D RGD:9068941 20200609 RGD associated with Uveal Melanoma;protein:increased expression:serum: PMID:23197685|REF_RGD_ID:8548834 12008691 IGF1 insulin like growth factor 1 gene DOID:9000998 Brain Injuries treatment ISO RGD:70506 D RGD:9068941 20200609 RGD human protein in a rat model PMID:9344566|REF_RGD_ID:12904928 12008691 IGF1 insulin like growth factor 1 gene DOID:9001472 Nasal Polyps ISO RGD:70506 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity mucosa: PMID:18202785|REF_RGD_ID:8548875 12008691 IGF1 insulin like growth factor 1 gene DOID:9001542 Albuminuria susceptibility ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16645019|REF_RGD_ID:1598420 12008691 IGF1 insulin like growth factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2868 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:12800242|REF_RGD_ID:10045984 12008691 IGF1 insulin like growth factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15591519|PMID:15745444 12008691 IGF1 insulin like growth factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16434425|REF_RGD_ID:2317647 12008691 IGF1 insulin like growth factor 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:20198635|REF_RGD_ID:12904923 12008691 IGF1 insulin like growth factor 1 gene DOID:9001600 Wounds and Injuries ISO RGD:10765 D RGD:9068941 20200609 RGD associated with Rhinosinusitis; mRNA:increased expression:nose: PMID:20713758|REF_RGD_ID:8548883 12008691 IGF1 insulin like growth factor 1 gene DOID:9001600 Wounds and Injuries ISO RGD:2868 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:21296499|REF_RGD_ID:8549452 12008691 IGF1 insulin like growth factor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2868 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expression:serum (rat) PMID:10444029|REF_RGD_ID:12904967 12008691 IGF1 insulin like growth factor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17194636|REF_RGD_ID:2313764 12008691 IGF1 insulin like growth factor 1 gene DOID:9002209 Skull Fractures ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:12002507|REF_RGD_ID:8548865 12008691 IGF1 insulin like growth factor 1 gene DOID:9002211 Hyperalgesia ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9452187 12008691 IGF1 insulin like growth factor 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:19088829|REF_RGD_ID:2306715 12008691 IGF1 insulin like growth factor 1 gene DOID:9002231 Fetal Growth Retardation onset ISO RGD:2868 D RGD:9068941 20200609 RGD protein:decreased expression:placenta labyrinth (rat) PMID:24239160|REF_RGD_ID:12904720 12008691 IGF1 insulin like growth factor 1 gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:15506645|REF_RGD_ID:1600258 12008691 IGF1 insulin like growth factor 1 gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:70506 D RGD:9068941 20200609 RGD human protein in a rat model PMID:9284279|REF_RGD_ID:12910460 12008691 IGF1 insulin like growth factor 1 gene DOID:9002234 Pituitary Neoplasms ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1611713 12008691 IGF1 insulin like growth factor 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11014614 12008691 IGF1 insulin like growth factor 1 gene DOID:9002278 Metabolic Bone Diseases treatment ISO RGD:2868 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21567076|REF_RGD_ID:6907380 12008691 IGF1 insulin like growth factor 1 gene DOID:9002278 Metabolic Bone Diseases treatment ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:8619365|REF_RGD_ID:10402812 12008691 IGF1 insulin like growth factor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:2868 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:19171036|REF_RGD_ID:2306713 12008691 IGF1 insulin like growth factor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16465378|PMID:19208208|PMID:24586243 12008691 IGF1 insulin like growth factor 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:10765 D RGD:9068941 20200609 RGD PMID:9497937|REF_RGD_ID:10046057 12008691 IGF1 insulin like growth factor 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:70506 D RGD:9068941 20200609 RGD mRNA:increased expression:meniscus: PMID:20633672|REF_RGD_ID:10045868 12008691 IGF1 insulin like growth factor 1 gene DOID:9002331 Knee Osteoarthritis disease_progression ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:8461919|REF_RGD_ID:10045862 12008691 IGF1 insulin like growth factor 1 gene DOID:9002331 Knee Osteoarthritis severity ISO RGD:2868 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (rat) PMID:17133593|REF_RGD_ID:10003130 12008691 IGF1 insulin like growth factor 1 gene DOID:9002427 Fetal Macrosomia ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:17113804|REF_RGD_ID:12743591 12008691 IGF1 insulin like growth factor 1 gene DOID:9002457 Experimental Arthritis ISO RGD:2868 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:19246225|REF_RGD_ID:2306697 12008691 IGF1 insulin like growth factor 1 gene DOID:9002514 Neointima ISO RGD:70506 D RGD:9068941 20200609 RGD associated with Hypertension PMID:12791939|REF_RGD_ID:1580477 12008691 IGF1 insulin like growth factor 1 gene DOID:9002739 Female Urogenital Diseases ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 12008691 IGF1 insulin like growth factor 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:70506 D RGD:9068941 20200609 RGD human protein in a rat model PMID:7541143|REF_RGD_ID:6483353 12008691 IGF1 insulin like growth factor 1 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:2868 D RGD:9068941 20200609 RGD protein:decreased expression:serum (rat) PMID:18344903|REF_RGD_ID:12910457 12008691 IGF1 insulin like growth factor 1 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16585854|REF_RGD_ID:8549455 12008691 IGF1 insulin like growth factor 1 gene DOID:9002916 Hyperphagia ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:17567960|REF_RGD_ID:10046043 12008691 IGF1 insulin like growth factor 1 gene DOID:9002955 Nerve Degeneration ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10203697|PMID:9452187 12008691 IGF1 insulin like growth factor 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12008691 IGF1 insulin like growth factor 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:19766709|REF_RGD_ID:10046049 12008691 IGF1 insulin like growth factor 1 gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:23694759|REF_RGD_ID:12904932 12008691 IGF1 insulin like growth factor 1 gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:11672597|REF_RGD_ID:8549456 12008691 IGF1 insulin like growth factor 1 gene DOID:9003817 Sudden Hearing Loss treatment ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:21108784|REF_RGD_ID:8548824 12008691 IGF1 insulin like growth factor 1 gene DOID:9003921 Zinc Deficiency ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:20404036|REF_RGD_ID:12904966 12008691 IGF1 insulin like growth factor 1 gene DOID:9003936 Cardiomegaly ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10547078 12008691 IGF1 insulin like growth factor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:10765 D RGD:9068941 20200609 RGD PMID:16306169|REF_RGD_ID:1598442 12008691 IGF1 insulin like growth factor 1 gene DOID:9004091 Osteophytes ISO RGD:2868 D RGD:9068941 20200609 RGD associated with Acromegaly PMID:10499542|REF_RGD_ID:10003127 12008691 IGF1 insulin like growth factor 1 gene DOID:9004464 Skin Neoplasms ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24353828 12008691 IGF1 insulin like growth factor 1 gene DOID:9004464 Skin Neoplasms ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:9135074|REF_RGD_ID:8549453 12008691 IGF1 insulin like growth factor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18398872 12008691 IGF1 insulin like growth factor 1 gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:11063288|REF_RGD_ID:10045861 12008691 IGF1 insulin like growth factor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:10765 D RGD:9068941 20200609 RGD PMID:23342276|REF_RGD_ID:8549490 12008691 IGF1 insulin like growth factor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15217511|PMID:15528971|PMID:17584969 12008691 IGF1 insulin like growth factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10765 D RGD:9068941 20200609 RGD protein:decreased expression:oviduct PMID:18676006|REF_RGD_ID:2311502 12008691 IGF1 insulin like growth factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:corpus cavernosum: PMID:22133301|REF_RGD_ID:10046054 12008691 IGF1 insulin like growth factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2868 D RGD:9068941 20200609 RGD protein:decreased expression:cerebellum, serum PMID:19382144|REF_RGD_ID:2306671 12008691 IGF1 insulin like growth factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2868 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:20555424|REF_RGD_ID:4142788 12008691 IGF1 insulin like growth factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24632065 12008691 IGF1 insulin like growth factor 1 gene DOID:9005768 Thinness ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:10578024|REF_RGD_ID:10045866 12008691 IGF1 insulin like growth factor 1 gene DOID:9005873 Tongue Neoplasms ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:blood: PMID:8493451|REF_RGD_ID:8548876 12008691 IGF1 insulin like growth factor 1 gene DOID:9005930 Endotoxemia ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:12217886|REF_RGD_ID:625688 12008691 IGF1 insulin like growth factor 1 gene DOID:9005930 Endotoxemia ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver, serum PMID:18492809|REF_RGD_ID:10402757 12008691 IGF1 insulin like growth factor 1 gene DOID:9005941 Rhinosinusitis ISO RGD:10765 D RGD:9068941 20200609 RGD mRNA:increased expression:nose: PMID:20713758|REF_RGD_ID:8548883 12008691 IGF1 insulin like growth factor 1 gene DOID:9006008 Closed Head Injuries ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:12002507|REF_RGD_ID:8548865 12008691 IGF1 insulin like growth factor 1 gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:21037532|REF_RGD_ID:8549460 12008691 IGF1 insulin like growth factor 1 gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:10090325|REF_RGD_ID:12904918 12008691 IGF1 insulin like growth factor 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:10765 D RGD:9068941 20200609 RGD protein:increased expression:serum,carotid artery: PMID:12490968|REF_RGD_ID:10046051 12008691 IGF1 insulin like growth factor 1 gene DOID:9006257 Growth Disorders ISO RGD:70506 D RGD:9068941 20200609 RGD IGF1 deficiency, OMIM:608747;DNA:deletion PMID:8857020|REF_RGD_ID:1624297 12008691 IGF1 insulin like growth factor 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20064577 12008691 IGF1 insulin like growth factor 1 gene DOID:9006877 Insulin-Like Growth Factor I Deficiency ISO RGD:70506 D RGD:7240710 20180130 OMIM 12008691 IGF1 insulin like growth factor 1 gene DOID:9006877 Insulin-Like Growth Factor I Deficiency ISO RGD:70506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth retardation with sensorineural deafness and mental retardation | ClinVar Annotator: match by term: Insulin-like growth factor I deficiency PMID:14684690|PMID:15769976|PMID:18317720|PMID:19240240|PMID:21915365|PMID:22832530|PMID:24033266|PMID:24389050|PMID:24664114|PMID:25741868|PMID:28492532|PMID:30214071|PMID:8857020 12008691 IGF1 insulin like growth factor 1 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11375343 12008691 IGF1 insulin like growth factor 1 gene DOID:9007096 Stroke ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:15567334|REF_RGD_ID:1598413 12008691 IGF1 insulin like growth factor 1 gene DOID:9007096 Stroke severity ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16882751|REF_RGD_ID:1598423 12008691 IGF1 insulin like growth factor 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:16698918|REF_RGD_ID:1598426 12008691 IGF1 insulin like growth factor 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12008691 IGF1 insulin like growth factor 1 gene DOID:9007102 Myocardial Ischemia severity ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16793032|REF_RGD_ID:1598425 12008691 IGF1 insulin like growth factor 1 gene DOID:9007181 Osteoporotic Fractures ISO RGD:70506 D RGD:9068941 20200609 RGD DNA:repeat:promoter PMID:16939403|REF_RGD_ID:10045848 12008691 IGF1 insulin like growth factor 1 gene DOID:9007181 Osteoporotic Fractures susceptibility ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:10752709|REF_RGD_ID:10045863 12008691 IGF1 insulin like growth factor 1 gene DOID:9007181 Osteoporotic Fractures treatment ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:11834155|REF_RGD_ID:10003137 12008691 IGF1 insulin like growth factor 1 gene DOID:9007284 Precocious Puberty ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21402727 12008691 IGF1 insulin like growth factor 1 gene DOID:9007346 Cachexia ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30782979 12008691 IGF1 insulin like growth factor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23639586|PMID:25226513 12008691 IGF1 insulin like growth factor 1 gene DOID:9007480 Hyperoxia severity ISO RGD:70506 D RGD:9068941 20200609 RGD human protein in a rat model PMID:17697625|REF_RGD_ID:12904925 12008691 IGF1 insulin like growth factor 1 gene DOID:9007661 Dwarfism ISO RGD:2868 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (rat) PMID:20102388|REF_RGD_ID:12904931 12008691 IGF1 insulin like growth factor 1 gene DOID:9007661 Dwarfism ISO RGD:70506 D RGD:9068941 20200609 RGD DNA:nonsense mutation,haploinsufficiency :cds: PMID:20668042|REF_RGD_ID:8548823 12008691 IGF1 insulin like growth factor 1 gene DOID:9007730 Burns ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA:altered expression:multiple PMID:10827012|REF_RGD_ID:12910869 12008691 IGF1 insulin like growth factor 1 gene DOID:9008212 Diabetic Foot ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:fibroblast of dermis,stratum basale of epidermis: PMID:10727985|REF_RGD_ID:8549356 12008691 IGF1 insulin like growth factor 1 gene DOID:9008681 Deafness ISO RGD:10765 D RGD:9068941 20200609 RGD PMID:20661454|REF_RGD_ID:8549497 12008691 IGF1 insulin like growth factor 1 gene DOID:9008824 Sarcopenia ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:12919235|REF_RGD_ID:10045859 12008691 IGF1 insulin like growth factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17520698|PMID:18398872 12008691 IGF1 insulin like growth factor 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10370016 12008691 IGF1 insulin like growth factor 1 gene DOID:9351 diabetes mellitus ISO RGD:70506 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:corpus cavernosum: PMID:22133301|REF_RGD_ID:10046054 12008691 IGF1 insulin like growth factor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:18986336|REF_RGD_ID:2306690 12008691 IGF1 insulin like growth factor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16005252|REF_RGD_ID:2313767 12008691 IGF1 insulin like growth factor 1 gene DOID:9521 Laron syndrome ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:21054577|REF_RGD_ID:8549489 12008691 IGF1 insulin like growth factor 1 gene DOID:9743 diabetic neuropathy ISO RGD:2868 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19264110|REF_RGD_ID:2306687 12008691 IGF1 insulin like growth factor 1 gene DOID:9743 diabetic neuropathy ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17194636|REF_RGD_ID:2313764 12008691 IGF1 insulin like growth factor 1 gene DOID:9743 diabetic neuropathy treatment ISO RGD:10765 D RGD:9068941 20200609 RGD PMID:18545223|REF_RGD_ID:8549454 12008691 IGF1 insulin like growth factor 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24632065 12008691 IGF1 insulin like growth factor 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:15356074|PMID:19156625|REF_RGD_ID:2306688|REF_RGD_ID:2313769 12008691 IGF1 insulin like growth factor 1 gene DOID:9744 type 1 diabetes mellitus severity ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16887362|REF_RGD_ID:2313765 12008691 IGF1 insulin like growth factor 1 gene DOID:987 alopecia ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased secretion:dermal papilla: PMID:24499417|REF_RGD_ID:8549500 12008691 IGF1 insulin like growth factor 1 gene DOID:987 alopecia ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:10827403|REF_RGD_ID:8549462 12008713 DOLPP1 dolichyldiphosphatase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316643 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12008713 DOLPP1 dolichyldiphosphatase 1 gene DOID:630 genetic disease ISO RGD:1316643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008731 PLEKHG4 pleckstrin homology and RhoGEF domain containing G4 gene DOID:0050980 spinocerebellar ataxia type 31 ISO RGD:1604025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 31 PMID:16001362|PMID:16614795|PMID:16780885 12008731 PLEKHG4 pleckstrin homology and RhoGEF domain containing G4 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1604025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12008731 PLEKHG4 pleckstrin homology and RhoGEF domain containing G4 gene DOID:630 genetic disease ISO RGD:1604025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1606790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413734|PMID:24413737 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:0050823 third-degree atrioventricular block ISO RGD:1606790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Third degree atrioventricular block 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1606790 D RGD:9068941 20210910 RGD protein:decreased expression:oral epithelium (human) PMID:24122999|REF_RGD_ID:150429611 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1606790 D RGD:7240710 20180130 OMIM 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1606790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndrome PMID:25741868 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:0050908 myelodysplastic syndrome severity ISO RGD:1606790 D RGD:9068941 20200609 RGD DNA:mutations:multiple PMID:23099237|REF_RGD_ID:10450876 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:0050912 colon adenoma ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA:decreased expression:colon (human) PMID:29875879|REF_RGD_ID:150429665 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1606790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:0080188 chronic myelomonocytic leukemia ISO RGD:1606790 D RGD:9068941 20200609 RGD DNA:missense mutations, nonsense mutations, splice-site mutations:multiple PMID:20693430|REF_RGD_ID:11038679 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:10534 stomach cancer disease_progression ISO RGD:1606790 D RGD:9068941 20210910 RGD mRNA, protein:decreased expression:stomach (human) PMID:27027260|REF_RGD_ID:150429612 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:10534 stomach cancer disease_progression ISO RGD:1606790 D RGD:9068941 20210917 RGD associated with Neoplasm Metastasis; human cells in mouse model PMID:31242038|REF_RGD_ID:150429653 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:10534 stomach cancer severity ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA:decreased expression:stomach (human) PMID:31242038|REF_RGD_ID:150429653 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:10534 stomach cancer treatment ISO RGD:1606790 D RGD:9068941 20210917 RGD human cells in mouse model PMID:33058920|REF_RGD_ID:150429654 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:1612 breast cancer ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA:increased expression: Blood, peripheral blood mononuclear cells (human) PMID:30713804|REF_RGD_ID:150429690 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1606790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:2154 nephroblastoma ISO RGD:1606790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephroblastoma PMID:26822237 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:2226 myeloproliferative neoplasm ISO RGD:1606790 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.R686S (c.2058A>T), p.L1340P (c.4019T>C), p.H1868R (c.5603A>G) (human) PMID:19564637|REF_RGD_ID:11038680 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:234 colon adenocarcinoma ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA:increased expression:colorectum, Cancer Stem-like Cells (human) PMID:31057717|REF_RGD_ID:150429686 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1606790 D RGD:9068941 20210917 RGD associated with Lymphatic Metastasis;mRNA:decreased expression:esophagus squamous epithelium (human) PMID:27050164|REF_RGD_ID:150429668 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA:decreased expression:esophagus squamous epithelium (human) PMID:26093090|REF_RGD_ID:11528815 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1606790 D RGD:9068941 20210917 RGD DNA:mutations PMID:26873401|REF_RGD_ID:150429656 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1606790 D RGD:9068941 20210917 RGD DNA:mutations:multiple PMID:32554069|REF_RGD_ID:150429694 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:4450 renal cell carcinoma ISO RGD:1606790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:630 genetic disease ISO RGD:1606790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA:decreased expression:liver (human) PMID:26366235|REF_RGD_ID:150429684 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1606790 D RGD:9068941 20210910 RGD human cells in mouse model PMID:29331390|PMID:33097695|REF_RGD_ID:150429595|REF_RGD_ID:150429597 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA:decreased expression:liver (human) PMID:30070373|REF_RGD_ID:150429689 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA, protein:decreased expression:liver (human) PMID:33097695|REF_RGD_ID:150429597 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA, protein:increased expression:liver (human) PMID:29331390|REF_RGD_ID:150429595 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:8541 Sezary's disease ISO RGD:1606790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1606790 D RGD:9068941 20210910 RGD associated with colorectal cancer; protein:decreased expression:colorectum (human) PMID:33552282|REF_RGD_ID:150429609 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23593118 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:9004253 Immunoblastic Lymphadenopathy ISO RGD:1606790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413737 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:9004473 Monocytosis ISO RGD:1323180 D RGD:9068941 20200609 RGD PMID:24218139|REF_RGD_ID:11038772 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:9004835 Immunodeficiency 75 ISO RGD:1606790 D RGD:7240710 20210113 OMIM 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:9004835 Immunodeficiency 75 ISO RGD:1606790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 75 PMID:20061559|PMID:24315485|PMID:24728327|PMID:25741868|PMID:27834397|PMID:28492532|PMID:30890702|PMID:31827242|PMID:32518946 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1606790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:9005969 Refractory Anemia with Excess of Blasts disease_progression ISO RGD:1606790 D RGD:9068941 20200609 RGD PMID:25200248|REF_RGD_ID:11038682 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1606790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1606790 D RGD:9068941 20200609 RGD DNA:deletions PMID:23389918|REF_RGD_ID:11038681 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1606790 D RGD:9068941 20200609 RGD PMID:25200248|REF_RGD_ID:11038682 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:9256 colorectal cancer ISO RGD:1606790 D RGD:9068941 20210910 RGD associated with Neoplasm Metastasis; mRNA:decreased expression:colorectum (human) PMID:26816554|REF_RGD_ID:150429613 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:9256 colorectal cancer ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA, protein:increased expression:colorectum, CD4 positive T cells (human) PMID:30013992|REF_RGD_ID:150429655 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:9256 colorectal cancer ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA:decreased expression:colon (human) PMID:29875879|REF_RGD_ID:150429665 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:9256 colorectal cancer ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA:increased expression: Blood, peripheral blood mononuclear cells (human) PMID:30713804|REF_RGD_ID:150429690 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:9261 nasopharynx carcinoma severity ISO RGD:1606790 D RGD:9068941 20210910 RGD human cells in mouse model PMID:32774157|REF_RGD_ID:150429610 12008767 TET2 tet methylcytosine dioxygenase 2 gene DOID:9538 multiple myeloma ISO RGD:1606790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12008782 REXO2 RNA exonuclease 2 gene DOID:1059 intellectual disability ISO RGD:1603665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12008782 REXO2 RNA exonuclease 2 gene DOID:630 genetic disease ISO RGD:1603665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008782 REXO2 RNA exonuclease 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12008811 LOC100993556 ubiquinol-cytochrome-c reductase complex assembly factor 3 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:2298819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12008811 LOC100993556 ubiquinol-cytochrome-c reductase complex assembly factor 3 gene DOID:0080118 mitochondrial complex III deficiency nuclear type 9 ISO RGD:2298819 D RGD:7240710 20180130 OMIM 12008811 LOC100993556 ubiquinol-cytochrome-c reductase complex assembly factor 3 gene DOID:0080118 mitochondrial complex III deficiency nuclear type 9 ISO RGD:2298819 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 9 PMID:25008109|PMID:25741868|PMID:28492532 12008811 LOC100993556 ubiquinol-cytochrome-c reductase complex assembly factor 3 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:2298819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:28492532 12008811 LOC100993556 ubiquinol-cytochrome-c reductase complex assembly factor 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:2298819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12008811 LOC100993556 ubiquinol-cytochrome-c reductase complex assembly factor 3 gene DOID:1059 intellectual disability ISO RGD:2298819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12008811 LOC100993556 ubiquinol-cytochrome-c reductase complex assembly factor 3 gene DOID:630 genetic disease ISO RGD:2298819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008817 SUSD2 sushi domain containing 2 gene DOID:1826 epilepsy ISO RGD:1318458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12008817 SUSD2 sushi domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1318458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12008817 SUSD2 sushi domain containing 2 gene DOID:630 genetic disease ISO RGD:1318458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008845 FUT8 fucosyltransferase 8 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1344316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 12008845 FUT8 fucosyltransferase 8 gene DOID:630 genetic disease ISO RGD:1344316 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29304374 12008845 FUT8 fucosyltransferase 8 gene DOID:9003434 Congenital Disorder of Glycosylation with Defective Fucosylation 1 ISO RGD:1344316 D RGD:7240710 20190315 OMIM 12008845 FUT8 fucosyltransferase 8 gene DOID:9003434 Congenital Disorder of Glycosylation with Defective Fucosylation 1 ISO RGD:1344316 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation 1 PMID:24033266|PMID:25741868|PMID:28492532|PMID:29304374 12008845 FUT8 fucosyltransferase 8 gene DOID:9675 pulmonary emphysema ISO RGD:1550689 D RGD:9068941 20220825 MouseDO OMIM:130700 12008909 CELF1 CUGBP Elav-like family member 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1317078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12008909 CELF1 CUGBP Elav-like family member 1 gene DOID:1059 intellectual disability ISO RGD:1317078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12008909 CELF1 CUGBP Elav-like family member 1 gene DOID:630 genetic disease ISO RGD:1317078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008962 RHPN1 rhophilin Rho GTPase binding protein 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1313863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12008962 RHPN1 rhophilin Rho GTPase binding protein 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1313863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12008962 RHPN1 rhophilin Rho GTPase binding protein 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1313863 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12008962 RHPN1 rhophilin Rho GTPase binding protein 1 gene DOID:4621 holoprosencephaly ISO RGD:1313863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12008962 RHPN1 rhophilin Rho GTPase binding protein 1 gene DOID:630 genetic disease ISO RGD:1313863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008982 DDX39A DExD-box helicase 39A gene DOID:630 genetic disease ISO RGD:1350107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12008997 B4GALT1 beta-1,4-galactosyltransferase 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1349315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12008997 B4GALT1 beta-1,4-galactosyltransferase 1 gene DOID:0070256 congenital disorder of glycosylation type IId ISO RGD:1349315 D RGD:7240710 20180130 OMIM 12008997 B4GALT1 beta-1,4-galactosyltransferase 1 gene DOID:0070256 congenital disorder of glycosylation type IId ISO RGD:1349315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2D PMID:11901181|PMID:25741868|PMID:28492532|PMID:30653653|PMID:32157688 12008997 B4GALT1 beta-1,4-galactosyltransferase 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1349315 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12008997 B4GALT1 beta-1,4-galactosyltransferase 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1349315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12008997 B4GALT1 beta-1,4-galactosyltransferase 1 gene DOID:0111669 hyaline fibromatosis syndrome ISO RGD:1349315 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyaline fibromatosis syndrome PMID:25741868|PMID:28492532 12008997 B4GALT1 beta-1,4-galactosyltransferase 1 gene DOID:28 endocrine system disease ISO RGD:10640 D RGD:9068941 20220825 MouseDO 12008997 B4GALT1 beta-1,4-galactosyltransferase 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:10640 D RGD:9068941 20220825 MouseDO OMIM:161950 | OMIM:616818 12008997 B4GALT1 beta-1,4-galactosyltransferase 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1349315 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 12008997 B4GALT1 beta-1,4-galactosyltransferase 1 gene DOID:5212 congenital disorder of glycosylation susceptibility ISO RGD:1349315 D RGD:9068941 20200609 RGD DNA:insertion: ;1031insC PMID:11901181|REF_RGD_ID:1599432 12008997 B4GALT1 beta-1,4-galactosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1349315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12008997 B4GALT1 beta-1,4-galactosyltransferase 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1349315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12008997 B4GALT1 beta-1,4-galactosyltransferase 1 gene DOID:9870 galactosemia ISO RGD:1349315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12009018 HYAL2 hyaluronidase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12009018 HYAL2 hyaluronidase 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12009018 HYAL2 hyaluronidase 2 gene DOID:630 genetic disease ISO RGD:733698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12009018 HYAL2 hyaluronidase 2 gene DOID:6432 pulmonary hypertension ISO RGD:620321 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:19915162|REF_RGD_ID:9588633 12009018 HYAL2 hyaluronidase 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:620321 D RGD:9068941 20200609 RGD PMID:22529164|REF_RGD_ID:9588636 12009018 HYAL2 hyaluronidase 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:733698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12009038 SLFNL1 schlafen like 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12009038 SLFNL1 schlafen like 1 gene DOID:0111938 immunodeficiency 24 ISO RGD:1603541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency PMID:28492532 12009038 SLFNL1 schlafen like 1 gene DOID:630 genetic disease ISO RGD:1603541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12009076 XKR8 XK related 8 gene DOID:630 genetic disease ISO RGD:1602706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12009084 FBXO11 F-box protein 11 gene DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 ISO RGD:1348534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 PMID:19250818|PMID:24689082|PMID:25741868|PMID:26467025|PMID:28492532 12009084 FBXO11 F-box protein 11 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:1348534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 12009084 FBXO11 F-box protein 11 gene DOID:0112026 non-syndromic X-linked intellectual disability 99 ISO RGD:1348534 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 PMID:25741868 12009084 FBXO11 F-box protein 11 gene DOID:10534 stomach cancer ISO RGD:1348534 D RGD:9068941 20220505 RGD protein:increased expression:stomach (human) PMID:31829474|REF_RGD_ID:152025261 12009084 FBXO11 F-box protein 11 gene DOID:10534 stomach cancer exacerbates ISO RGD:1348534 D RGD:9068941 20220505 RGD mRNA, protein:increased expression:stomach (human) PMID:29278851|REF_RGD_ID:152025260 12009084 FBXO11 F-box protein 11 gene DOID:1059 intellectual disability ISO RGD:1348534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12009084 FBXO11 F-box protein 11 gene DOID:10754 otitis media ISO RGD:1553509 D RGD:9068941 20220825 MouseDO OMIM:166760 12009084 FBXO11 F-box protein 11 gene DOID:2043 hepatitis B ISO RGD:1348534 D RGD:9068941 20220505 RGD associated with hepatocellular carcinoma;protein:increased expression:liver (human) PMID:29603830|REF_RGD_ID:152025266 12009084 FBXO11 F-box protein 11 gene DOID:3459 breast carcinoma ameliorates ISO RGD:1348534 D RGD:9068941 20220505 RGD human constructs and cell line in a mouse model PMID:25203322|REF_RGD_ID:152025262 12009084 FBXO11 F-box protein 11 gene DOID:3883 Lynch syndrome ISO RGD:1348534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18269114|PMID:19250818|PMID:24323032|PMID:24362816|PMID:24689082|PMID:25741868|PMID:26467025|PMID:27620904|PMID:28135145|PMID:28492532 12009084 FBXO11 F-box protein 11 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1348534 D RGD:9068941 20220505 RGD PMID:31778188|REF_RGD_ID:152025265 12009084 FBXO11 F-box protein 11 gene DOID:630 genetic disease ISO RGD:1348534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:24728327|PMID:25741868|PMID:28492532|PMID:28691247|PMID:30057029|PMID:9536098 12009084 FBXO11 F-box protein 11 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1348534 D RGD:9068941 20220505 RGD mRNA:increased expression:liver (human) PMID:32657545|REF_RGD_ID:152025263 12009084 FBXO11 F-box protein 11 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1348534 D RGD:9068941 20220505 RGD mRNA:increased expression:liver (human) PMID:29518611|REF_RGD_ID:152025259 12009084 FBXO11 F-box protein 11 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1348534 D RGD:9068941 20220505 RGD protein:increased expression:liver (human) PMID:29603830|REF_RGD_ID:152025266 12009084 FBXO11 F-box protein 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348534 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:24728327|PMID:25741868|PMID:28492532|PMID:28691247|PMID:30057029 12009084 FBXO11 F-box protein 11 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1348534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:30057029 12009084 FBXO11 F-box protein 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:19250818|PMID:24689082|PMID:25741868|PMID:26467025|PMID:28492532 12009084 FBXO11 F-box protein 11 gene DOID:9008582 Developmental Disease ISO RGD:1348534 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:28492532 12009084 FBXO11 F-box protein 11 gene DOID:9009213 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES ISO RGD:1348534 D RGD:7240710 20190315 OMIM 12009084 FBXO11 F-box protein 11 gene DOID:9009213 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES ISO RGD:1348534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities PMID:25741868|PMID:28492532|PMID:28691247|PMID:29796876|PMID:30057029|PMID:30679813|PMID:34505148 12009084 FBXO11 F-box protein 11 gene DOID:9970 obesity ISO RGD:1348534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity 12009118 ANTXRL ANTXR like gene DOID:5419 schizophrenia ISO RGD:1602061 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12009141 CPEB2 cytoplasmic polyadenylation element binding protein 2 gene DOID:630 genetic disease ISO RGD:1316707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12009157 ABCA13 ATP binding cassette subfamily A member 13 gene DOID:3717 gastric adenocarcinoma susceptibility ISO RGD:1352197 D RGD:9068941 20220609 RGD DNA:amplification:cds: (human) PMID:27366209|REF_RGD_ID:152995256 12009157 ABCA13 ATP binding cassette subfamily A member 13 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12009157 ABCA13 ATP binding cassette subfamily A member 13 gene DOID:5419 schizophrenia ISO RGD:1352197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:25741868 12009157 ABCA13 ATP binding cassette subfamily A member 13 gene DOID:630 genetic disease ISO RGD:1352197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12009157 ABCA13 ATP binding cassette subfamily A member 13 gene DOID:9000081 Lymphatic Metastasis susceptibility ISO RGD:1352197 D RGD:9068941 20220609 RGD DNA:amplification:cds: (human, male) PMID:27366209|REF_RGD_ID:152995256 12009157 ABCA13 ATP binding cassette subfamily A member 13 gene DOID:9000918 Disease Progression ISO RGD:1352197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12009157 ABCA13 ATP binding cassette subfamily A member 13 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1352197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12009222 RNASEK ribonuclease K gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1604138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12009222 RNASEK ribonuclease K gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1604138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 12009222 RNASEK ribonuclease K gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1604138 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12009222 RNASEK ribonuclease K gene DOID:12177 common variable immunodeficiency ISO RGD:1604138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12009222 RNASEK ribonuclease K gene DOID:2729 dyskeratosis congenita ISO RGD:1604138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12009222 RNASEK ribonuclease K gene DOID:630 genetic disease ISO RGD:1604138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12009236 ZNF507 zinc finger protein 507 gene DOID:630 genetic disease ISO RGD:1315962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12009256 DTX4 deltex E3 ubiquitin ligase 4 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1323395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12009256 DTX4 deltex E3 ubiquitin ligase 4 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1323395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12009256 DTX4 deltex E3 ubiquitin ligase 4 gene DOID:1059 intellectual disability ISO RGD:1323395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12009256 DTX4 deltex E3 ubiquitin ligase 4 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1323395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 12009256 DTX4 deltex E3 ubiquitin ligase 4 gene DOID:630 genetic disease ISO RGD:1323395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12009270 ZNF432 zinc finger protein 432 gene DOID:630 genetic disease ISO RGD:1350152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12009270 ZNF432 zinc finger protein 432 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 12009270 ZNF432 zinc finger protein 432 gene DOID:9008939 Breast Neoplasms ISO RGD:1350152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 12009301 TBC1D10B TBC1 domain family member 10B gene DOID:630 genetic disease ISO RGD:1607066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12009314 BFSP1 beaded filament structural protein 1 gene DOID:0110264 cataract 33 ISO RGD:737302 D RGD:7240710 20180130 OMIM 12009314 BFSP1 beaded filament structural protein 1 gene DOID:0110264 cataract 33 ISO RGD:737302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 33 PMID:12454043|PMID:14638724|PMID:17225135|PMID:24281366|PMID:24379646|PMID:25741868|PMID:26694549|PMID:28450710|PMID:28492532 12009314 BFSP1 beaded filament structural protein 1 gene DOID:12270 coloboma ISO RGD:737302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:24281366|PMID:28492532 12009314 BFSP1 beaded filament structural protein 1 gene DOID:630 genetic disease ISO RGD:737302 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12009314 BFSP1 beaded filament structural protein 1 gene DOID:83 cataract ISO RGD:737302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 12009338 RAB28 RAB28, member RAS oncogene family gene DOID:0050572 cone-rod dystrophy ISO RGD:736462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:23746546 12009338 RAB28 RAB28, member RAS oncogene family gene DOID:0111024 cone-rod dystrophy 18 ISO RGD:736462 D RGD:7240710 20180130 OMIM 12009338 RAB28 RAB28, member RAS oncogene family gene DOID:0111024 cone-rod dystrophy 18 ISO RGD:736462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 18 PMID:23746546|PMID:23806086|PMID:24088041|PMID:25356532|PMID:25741868|PMID:28492532 12009338 RAB28 RAB28, member RAS oncogene family gene DOID:10584 retinitis pigmentosa ISO RGD:736462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:30718709 12009338 RAB28 RAB28, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:736462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12009338 RAB28 RAB28, member RAS oncogene family gene DOID:8501 fundus dystrophy ISO RGD:736462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 12009358 EMC7 ER membrane protein complex subunit 7 gene DOID:2717 Bloom syndrome ISO RGD:1312839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12009358 EMC7 ER membrane protein complex subunit 7 gene DOID:630 genetic disease ISO RGD:1312839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12009358 EMC7 ER membrane protein complex subunit 7 gene DOID:9256 colorectal cancer ISO RGD:1312839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12009367 ANXA9 annexin A9 gene DOID:0111940 immunodeficiency 42 ISO RGD:1352405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12009367 ANXA9 annexin A9 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1352405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12009367 ANXA9 annexin A9 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1352405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12009367 ANXA9 annexin A9 gene DOID:1540 parathyroid carcinoma ISO RGD:1352405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12009367 ANXA9 annexin A9 gene DOID:5812 MHC class II deficiency ISO RGD:1352405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12009367 ANXA9 annexin A9 gene DOID:630 genetic disease ISO RGD:1352405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12009367 ANXA9 annexin A9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12009395 SCUBE3 signal peptide, CUB domain and EGF like domain containing 3 gene DOID:0050553 JMP syndrome ISO RGD:1312575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12009395 SCUBE3 signal peptide, CUB domain and EGF like domain containing 3 gene DOID:0112358 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 ISO RGD:1312575 D RGD:7240710 20210303 OMIM 12009395 SCUBE3 signal peptide, CUB domain and EGF like domain containing 3 gene DOID:0112358 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 ISO RGD:1312575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 PMID:25741868|PMID:33308444 12009395 SCUBE3 signal peptide, CUB domain and EGF like domain containing 3 gene DOID:10283 prostate cancer ISO RGD:1312575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12009395 SCUBE3 signal peptide, CUB domain and EGF like domain containing 3 gene DOID:630 genetic disease ISO RGD:1312575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12009395 SCUBE3 signal peptide, CUB domain and EGF like domain containing 3 gene DOID:9007661 Dwarfism ISO RGD:1312575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:33308444 12009426 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:2747 glycogen storage disease ISO RGD:1314958 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glycogen storage disease PMID:17994282|PMID:20071996|PMID:20490926|PMID:23430490|PMID:24033266|PMID:25602008|PMID:25741868|PMID:26984562|PMID:28492532|PMID:29374762|PMID:31980526|PMID:8990006|PMID:9412782 12009426 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:2748 glycogen storage disease III ISO RGD:1314958 D RGD:7240710 20180130 OMIM 12009426 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:2748 glycogen storage disease III ISO RGD:1314958 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type III PMID:10472540|PMID:10571954|PMID:10655153|PMID:10801050|PMID:10925384|PMID:10982190|PMID:11378828|PMID:11757581|PMID:11924557|PMID:11949933|PMID:11977176|PMID:12442284|PMID:12955720|PMID:15542399|PMID:15833157|PMID:16189622|PMID:16199547|PMID:16705713|PMID:17047887|PMID:17196294|PMID:17576681|PMID:17895567|PMID:17908927|PMID:17915576|PMID:17994282|PMID:18617770|PMID:18785866|PMID:18924225|PMID:19299494|PMID:19754354|PMID:19763152|PMID:19834502|PMID:19951465|PMID:19951495|PMID:20071996|PMID:20158661|PMID:20307669|PMID:20490926|PMID:20526204|PMID:20648714|PMID:21228398|PMID:21321962|PMID:21691223|PMID:22089644|PMID:22406018|PMID:22899091|PMID:22995991|PMID:23062577|PMID:23207808|PMID:23430490|PMID:23430832|PMID:23430941|PMID:23649758|PMID:24033266|PMID:24257475|PMID:24495762|PMID:24824133|PMID:25388549|PMID:25431232|PMID:25451272|PMID:25451950|PMID:25525159|PMID:25602008|PMID:25741868|PMID:25827695|PMID:26885414|PMID:26913919|PMID:26984562|PMID:27088557|PMID:27106217|PMID:27460348|PMID:27604308|PMID:28039895|PMID:28074886|PMID:28492532|PMID:28720891|PMID:28888851|PMID:29374762|PMID:29614965|PMID:29794575|PMID:30916492|PMID:31028654|PMID:31319225|PMID:31508908|PMID:31661040|PMID:31980526|PMID:32222031|PMID:32374048|PMID:32528171|PMID:32772503|PMID:33344388|PMID:34019008|PMID:34134972|PMID:34298581|PMID:34649782|PMID:34820282|PMID:8702417|PMID:8755644|PMID:87556440|PMID:8990006|PMID:9332391|PMID:9412782|PMID:9490286|PMID:9536098|PMID:9584265 12009426 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:2748 glycogen storage disease III susceptibility ISO RGD:1314958 D RGD:9068941 20200609 RGD DNA:missense mutations, frameshift mutations, nonsense mutations: :multiple PMID:16705713|REF_RGD_ID:1601129 12009426 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:4676 uremia ISO RGD:1306376 D RGD:9068941 20200609 RGD PMID:807434|REF_RGD_ID:1598784 12009426 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:630 genetic disease ISO RGD:1314958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10472540|PMID:17576681|PMID:19299494|PMID:20071996|PMID:20490926|PMID:20648714|PMID:23062577|PMID:23430490|PMID:25741868|PMID:28492532|PMID:31028654|PMID:34649782|PMID:34820282|PMID:8990006|PMID:9536098 12009426 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:9000150 Glycogen Storage Disease IIIA ISO RGD:1314958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IIIa PMID:10571954|PMID:10655153|PMID:10801050|PMID:10982190|PMID:11378828|PMID:11924557|PMID:12442284|PMID:15542399|PMID:16189622|PMID:16199547|PMID:16705713|PMID:17576681|PMID:17908927|PMID:18924225|PMID:19299494|PMID:19834502|PMID:19951465|PMID:20071996|PMID:20490926|PMID:20648714|PMID:21691223|PMID:22089644|PMID:22899091|PMID:23062577|PMID:23207808|PMID:23430490|PMID:25388549|PMID:25525159|PMID:25602008|PMID:25741868|PMID:25827695|PMID:26913919|PMID:26984562|PMID:27460348|PMID:28492532|PMID:29614965|PMID:31319225|PMID:32772503|PMID:8702417|PMID:8990006|PMID:9412782|PMID:9490286|PMID:9536098 12009426 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12009426 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:9002814 Glycogen Storage Disease IIIC ISO RGD:1314958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IIIc PMID:19299494|PMID:19834502 12009426 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:9004482 Glycogen Storage Disease IIIB ISO RGD:1314958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IIIb PMID:10655153|PMID:10801050|PMID:10925384|PMID:11924557|PMID:17196294|PMID:17576681|PMID:19299494|PMID:20071996|PMID:20490926|PMID:20526204|PMID:20648714|PMID:22089644|PMID:23430490|PMID:25741868|PMID:25827695|PMID:26984562|PMID:28492532|PMID:32222031|PMID:8755644|PMID:9490286|PMID:9536098 12009426 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1306376 D RGD:9068941 20200609 RGD PMID:9281456|REF_RGD_ID:1598779 12009426 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:9008858 Arthrogryposis, Impaired Intellectual Development, and Seizures ISO RGD:1314958 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder - epilepsy - arthrogryposis syndrome PMID:24031089|PMID:28328131|PMID:28492532 12009426 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:9269 maple syrup urine disease ISO RGD:1314958 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 12009476 ACKR2 atypical chemokine receptor 2 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1353783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 12009476 ACKR2 atypical chemokine receptor 2 gene DOID:630 genetic disease ISO RGD:1353783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12009483 ULK1 unc-51 like autophagy activating kinase 1 gene DOID:0080178 mucositis treatment ISO RGD:1589743 D RGD:9068941 20200609 RGD PMID:25732242|REF_RGD_ID:13208871 12009483 ULK1 unc-51 like autophagy activating kinase 1 gene DOID:630 genetic disease ISO RGD:1344835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12009483 ULK1 unc-51 like autophagy activating kinase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1589743 D RGD:9068941 20200609 RGD protein:increased expression:neuron, axon PMID:25040536|REF_RGD_ID:11553820 12009483 ULK1 unc-51 like autophagy activating kinase 1 gene DOID:9004332 Osteoarthritis, Experimental treatment ISO RGD:1589743 D RGD:9068941 20200609 RGD PMID:23589102|REF_RGD_ID:11561955 12009517 TRUB2 TruB pseudouridine synthase family member 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346955 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12009517 TRUB2 TruB pseudouridine synthase family member 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1346955 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12009517 TRUB2 TruB pseudouridine synthase family member 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346955 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12009517 TRUB2 TruB pseudouridine synthase family member 2 gene DOID:630 genetic disease ISO RGD:1346955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12009532 KLF7 KLF transcription factor 7 gene DOID:1059 intellectual disability ISO RGD:1314410 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: intellectual deficiency PMID:25741868|PMID:29251763 12009532 KLF7 KLF transcription factor 7 gene DOID:14557 primary pulmonary hypertension ISO RGD:1314410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12009532 KLF7 KLF transcription factor 7 gene DOID:630 genetic disease ISO RGD:1314410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17434132|PMID:18094723|PMID:25741868|PMID:28492532|PMID:29251763 12009532 KLF7 KLF transcription factor 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314410 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: KLF7-related neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:17434132|PMID:18094723|PMID:25741868|PMID:28492532|PMID:29251763 12009558 GABBR1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:10763 hypertension ISO RGD:621537 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:18338268|REF_RGD_ID:2315462 12009558 GABBR1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:11372 megacolon ISO RGD:734108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12009558 GABBR1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:11832 visual epilepsy ISO RGD:621537 D RGD:9068941 20200609 RGD PMID:15153780|REF_RGD_ID:2315492 12009558 GABBR1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:11832 visual epilepsy ISO RGD:621537 D RGD:9068941 20200609 RGD protein:altered location:forebrain PMID:19054408|REF_RGD_ID:2315437 12009558 GABBR1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:12849 autistic disorder ISO RGD:734108 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16770606|PMID:19002745 12009558 GABBR1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:1574 alcohol use disorder ISO RGD:734108 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 12009558 GABBR1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:630 genetic disease ISO RGD:734108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12009558 GABBR1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:9002362 Hyperkinesis ISO RGD:734108 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16990508 12009558 GABBR1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:734108 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 12009558 GABBR1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621537 D RGD:9068941 20200609 RGD PMID:2849069|REF_RGD_ID:2315971 12009558 GABBR1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:9008086 Developmental Disabilities ISO RGD:734108 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:36103875 12009593 YIPF6 Yip1 domain family member 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12009593 YIPF6 Yip1 domain family member 6 gene DOID:12849 autistic disorder ISO RGD:1605821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12009593 YIPF6 Yip1 domain family member 6 gene DOID:630 genetic disease ISO RGD:1605821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12009619 SPDYC speedy/RINGO cell cycle regulator family member C gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12009619 SPDYC speedy/RINGO cell cycle regulator family member C gene DOID:1059 intellectual disability ISO RGD:1606089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12009619 SPDYC speedy/RINGO cell cycle regulator family member C gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12009619 SPDYC speedy/RINGO cell cycle regulator family member C gene DOID:2746 glycogen storage disease V ISO RGD:1606089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12009619 SPDYC speedy/RINGO cell cycle regulator family member C gene DOID:3070 high grade glioma ISO RGD:1606089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12009619 SPDYC speedy/RINGO cell cycle regulator family member C gene DOID:630 genetic disease ISO RGD:1606089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12009631 SLC7A14 solute carrier family 7 member 14 gene DOID:0110374 retinitis pigmentosa 68 ISO RGD:1605648 D RGD:7240710 20180130 OMIM 12009631 SLC7A14 solute carrier family 7 member 14 gene DOID:0110374 retinitis pigmentosa 68 ISO RGD:1605648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 68 PMID:24670872|PMID:25741868|PMID:28492532|PMID:32036094 12009631 SLC7A14 solute carrier family 7 member 14 gene DOID:10003 sensorineural hearing loss ISO RGD:1622922 D RGD:9068941 20220825 MouseDO 12009631 SLC7A14 solute carrier family 7 member 14 gene DOID:1062 Fanconi syndrome ISO RGD:1605648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 12009631 SLC7A14 solute carrier family 7 member 14 gene DOID:1432 blindness ISO RGD:1622922 D RGD:9068941 20220825 MouseDO 12009631 SLC7A14 solute carrier family 7 member 14 gene DOID:630 genetic disease ISO RGD:1605648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32036094 12009631 SLC7A14 solute carrier family 7 member 14 gene DOID:8501 fundus dystrophy ISO RGD:1605648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 12009643 POLR1D RNA polymerase I and III subunit D gene DOID:0080790 Treacher Collins syndrome 2 ISO RGD:1343756 D RGD:7240710 20230505 OMIM 12009643 POLR1D RNA polymerase I and III subunit D gene DOID:0080790 Treacher Collins syndrome 2 ISO RGD:1343756 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Treacher Collins syndrome 2 PMID:21131976|PMID:24603435|PMID:25741868|PMID:28492532|PMID:34397304 12009643 POLR1D RNA polymerase I and III subunit D gene DOID:303 substance-related disorder ISO RGD:1343756 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12009643 POLR1D RNA polymerase I and III subunit D gene DOID:3910 lung adenocarcinoma ISO RGD:1343756 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12009643 POLR1D RNA polymerase I and III subunit D gene DOID:630 genetic disease ISO RGD:1343756 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12009643 POLR1D RNA polymerase I and III subunit D gene DOID:9004538 Hearing Loss ISO RGD:1343756 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 12009643 POLR1D RNA polymerase I and III subunit D gene DOID:9006205 Animal Disease Models ISO RGD:1343756 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12009643 POLR1D RNA polymerase I and III subunit D gene DOID:9008003 Mandibulofacial Dysostosis ISO RGD:1343756 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:21131976 12009650 TARDBP TAR DNA binding protein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1322081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12009650 TARDBP TAR DNA binding protein gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1322081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant PMID:19411082|PMID:20082726|PMID:20675015|PMID:20708823|PMID:22575358|PMID:24033266|PMID:26467025|PMID:28492532 12009650 TARDBP TAR DNA binding protein gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:1322081 D RGD:7240710 20180130 OMIM 12009650 TARDBP TAR DNA binding protein gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:1322081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 | ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED | ClinVar Annotator: match by term: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED PMID:18068872|PMID:18288693|PMID:18309045|PMID:18372902|PMID:18396105|PMID:18438952|PMID:18505686|PMID:18545701|PMID:18779421|PMID:18802454|PMID:18931000|PMID:19204172|PMID:19224587|PMID:19228676|PMID:19236453|PMID:19350673|PMID:19411082|PMID:19429692|PMID:19465477|PMID:19515851|PMID:19609911|PMID:19618195|PMID:19655382|PMID:19695877|PMID:19714537|PMID:19760257|PMID:19786775|PMID:19808791|PMID:19833869|PMID:19864663|PMID:19864664|PMID:19959528|PMID:20031275|PMID:20082726|PMID:20154440|PMID:20301761|PMID:20472325|PMID:20555136|PMID:20558945|PMID:20577002|PMID:20600671|PMID:20624952|PMID:20645878|PMID:20675015|PMID:20697052|PMID:20708823|PMID:20806063|PMID:20959352|PMID:21123567|PMID:21173160|PMID:21220647|PMID:21403029|PMID:21438137|PMID:21651514|PMID:21666678|PMID:21752789|PMID:21829392|PMID:21830990|PMID:21857683|PMID:21943958|PMID:22121224|PMID:22406069|PMID:22456481|PMID:22539580|PMID:22563080|PMID:22575358|PMID:22645277|PMID:22722621|PMID:23100398|PMID:23231971|PMID:23235148|PMID:23327806|PMID:23345247|PMID:23356346|PMID:23401527|PMID:23457265|PMID:23692129|PMID:23721326|PMID:23827948|PMID:23881933|PMID:24117534|PMID:24143176|PMID:24237396|PMID:24440310|PMID:24477737|PMID:24507191|PMID:25090004|PMID:25138285|PMID:25375143|PMID:25382069|PMID:25408367|PMID:25442115|PMID:25588603|PMID:25681989|PMID:25741868|PMID:25792239|PMID:25913742|PMID:26096467|PMID:26467025|PMID:26581115|PMID:26777436|PMID:26883171|PMID:27348499|PMID:27570075|PMID:28089114|PMID:28286471|PMID:28334913|PMID:28335005|PMID:28430856|PMID:28444446|PMID:28487370|PMID:28492532|PMID:28573484|PMID:28709720|PMID:28889094|PMID:29091718|PMID:29411640|PMID:29419416|PMID:29525180|PMID:29621978|PMID:29630989|PMID:29650794|PMID:29801890|PMID:29895397|PMID:30324134|PMID:30442180|PMID:30461104|PMID:30553531|PMID:30586030|PMID:30773994|PMID:31124595|PMID:31852254|PMID:31996268|PMID:32166880|PMID:32253937|PMID:32409511|PMID:32579787|PMID:32843152|PMID:32951934|PMID:33159016|PMID:33301444|PMID:33479441|PMID:33589474|PMID:33770234|PMID:34162492 12009650 TARDBP TAR DNA binding protein gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1322081 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12009650 TARDBP TAR DNA binding protein gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1617357 D RGD:9068941 20220825 MouseDO OMIM:607485 12009650 TARDBP TAR DNA binding protein gene DOID:0111936 immunodeficiency 14 ISO RGD:1322081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 12009650 TARDBP TAR DNA binding protein gene DOID:10652 Alzheimer's disease ISO RGD:1322081 D RGD:9068941 20200609 RGD protein:increased expression, phosphorylation:motor cortex PMID:21376022|REF_RGD_ID:5687139 12009650 TARDBP TAR DNA binding protein gene DOID:10652 Alzheimer's disease ISO RGD:1617357 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:21070634|REF_RGD_ID:5687178 12009650 TARDBP TAR DNA binding protein gene DOID:11870 Pick's disease ISO RGD:1322081 D RGD:9068941 20200609 RGD PMID:18091558|REF_RGD_ID:5687194 12009650 TARDBP TAR DNA binding protein gene DOID:12217 Lewy body dementia ISO RGD:1322081 D RGD:9068941 20200609 RGD PMID:20669025|REF_RGD_ID:5687180 12009650 TARDBP TAR DNA binding protein gene DOID:1289 neurodegenerative disease ISO RGD:1322081 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33479441 12009650 TARDBP TAR DNA binding protein gene DOID:14330 Parkinson's disease ISO RGD:1322081 D RGD:9068941 20200609 RGD PMID:20551689|REF_RGD_ID:5687183 12009650 TARDBP TAR DNA binding protein gene DOID:14330 Parkinson's disease ISO RGD:1322081 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.A382T (human) PMID:21667065|REF_RGD_ID:5687172 12009650 TARDBP TAR DNA binding protein gene DOID:231 motor neuron disease ISO RGD:1322081 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Motor neuron disease PMID:18372902|PMID:18931000|PMID:19224587|PMID:19760257|PMID:23881933|PMID:25442115|PMID:25741868|PMID:28089114|PMID:28430856|PMID:28492532 12009650 TARDBP TAR DNA binding protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1322081 D RGD:9068941 20200609 RGD PMID:21752789|REF_RGD_ID:5687134 12009650 TARDBP TAR DNA binding protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1322081 D RGD:9068941 20200609 RGD DNA:missense mutations:cds: PMID:18372902|REF_RGD_ID:5687192 12009650 TARDBP TAR DNA binding protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1322081 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.G295S(human) PMID:21651514|REF_RGD_ID:5687173 12009650 TARDBP TAR DNA binding protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1322081 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.M337V(human) PMID:18309045|REF_RGD_ID:5687157 12009650 TARDBP TAR DNA binding protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1322081 D RGD:9068941 20200609 RGD protein:increased phosphorylation:brain PMID:17023659|REF_RGD_ID:5687158 12009650 TARDBP TAR DNA binding protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1322081 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:18372902|PMID:21167262|PMID:22879928|PMID:23104007|PMID:23891805|PMID:24019256|PMID:24252504|PMID:26980269|PMID:28122516|PMID:28478440|PMID:29419416|PMID:30157956 12009650 TARDBP TAR DNA binding protein gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:1322081 D RGD:9068941 20200609 RGD PMID:21998667|REF_RGD_ID:5687137 12009650 TARDBP TAR DNA binding protein gene DOID:630 genetic disease ISO RGD:1322081 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18068872|PMID:18288693|PMID:18309045|PMID:18372902|PMID:18505686|PMID:18545701|PMID:18779421|PMID:18802454|PMID:18931000|PMID:19204172|PMID:19224587|PMID:19236453|PMID:19411082|PMID:19515851|PMID:19695877|PMID:19760257|PMID:19786775|PMID:19808791|PMID:19864663|PMID:20082726|PMID:20555136|PMID:20645878|PMID:20675015|PMID:20708823|PMID:21120508|PMID:21173160|PMID:22121224|PMID:22456481|PMID:22539580|PMID:22575358|PMID:22645277|PMID:22722621|PMID:23100398|PMID:23327806|PMID:24143176|PMID:24325798|PMID:25375143|PMID:25442115|PMID:25588603|PMID:25741868|PMID:26467025|PMID:26883171|PMID:28286471|PMID:28335005|PMID:28430856|PMID:28492532|PMID:28889094|PMID:29091718|PMID:31996268|PMID:33589474|PMID:34162492 12009650 TARDBP TAR DNA binding protein gene DOID:678 progressive supranuclear palsy ISO RGD:1322081 D RGD:9068941 20200609 RGD PMID:20512649|REF_RGD_ID:5687185 12009650 TARDBP TAR DNA binding protein gene DOID:9000998 Brain Injuries ISO RGD:1322081 D RGD:9068941 20200609 RGD PMID:22101322|REF_RGD_ID:5687195 12009650 TARDBP TAR DNA binding protein gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1322081 D RGD:9068941 20200609 RGD PMID:22177996|REF_RGD_ID:5687136 12009650 TARDBP TAR DNA binding protein gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1322081 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.A382T (human) PMID:21667065|REF_RGD_ID:5687172 12009650 TARDBP TAR DNA binding protein gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1322081 D RGD:9068941 20200609 RGD protein:increased phosphorylation:brain PMID:17023659|REF_RGD_ID:5687158 12009650 TARDBP TAR DNA binding protein gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1322081 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:24019256|PMID:24252504|PMID:24477737|PMID:26980269 12009650 TARDBP TAR DNA binding protein gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1617357 D RGD:9068941 20200609 RGD PMID:20660618|REF_RGD_ID:5687159 12009650 TARDBP TAR DNA binding protein gene DOID:9002347 MASP2 Deficiency ISO RGD:1322081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 2 | ClinVar Annotator: match by term: MASP2 deficiency PMID:24033266|PMID:25741868|PMID:28492532 12009650 TARDBP TAR DNA binding protein gene DOID:9002775 Cognitive Dysfunction ISO RGD:1322081 D RGD:9068941 20200609 RGD protein:increased phosphorylation:neocortex PMID:21865887|REF_RGD_ID:5687171 12009650 TARDBP TAR DNA binding protein gene DOID:9005179 Chronic Brain Injury ISO RGD:1322081 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:20720505|REF_RGD_ID:5687179 12009650 TARDBP TAR DNA binding protein gene DOID:9006158 Peroxisome Biogenesis Disorder, Complementation Group K ISO RGD:1322081 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K PMID:28492532 12009650 TARDBP TAR DNA binding protein gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1322081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 12009650 TARDBP TAR DNA binding protein gene DOID:9255 frontotemporal dementia ISO RGD:1322081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia PMID:19411082|PMID:20082726|PMID:20675015|PMID:20708823|PMID:22575358|PMID:24033266|PMID:26467025|PMID:28492532 12009661 RPN1 ribophorin I gene DOID:0111947 immunodeficiency 21 ISO RGD:731637 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:22147895|PMID:23223431|PMID:28492532 12009661 RPN1 ribophorin I gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:731637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12009661 RPN1 ribophorin I gene DOID:630 genetic disease ISO RGD:731637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12009661 RPN1 ribophorin I gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:731637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:23223431|PMID:25741868|PMID:26710799|PMID:28492532|PMID:31710708 12009661 RPN1 ribophorin I gene DOID:9270 alkaptonuria ISO RGD:731637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12009674 ADCY7 adenylate cyclase 7 gene DOID:0111122 nephronophthisis 14 ISO RGD:735780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 12009674 ADCY7 adenylate cyclase 7 gene DOID:5419 schizophrenia ISO RGD:735780 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12009674 ADCY7 adenylate cyclase 7 gene DOID:630 genetic disease ISO RGD:735780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12009674 ADCY7 adenylate cyclase 7 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735780 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12009674 ADCY7 adenylate cyclase 7 gene DOID:8577 ulcerative colitis ISO RGD:735780 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28067910 12009674 ADCY7 adenylate cyclase 7 gene DOID:9119 acute myeloid leukemia ISO RGD:735780 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 12009716 CCDC138 coiled-coil domain containing 138 gene DOID:0111201 distal hereditary motor neuronopathy type 7A ISO RGD:1603550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A PMID:28492532 12009716 CCDC138 coiled-coil domain containing 138 gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1603550 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant PMID:10431241|PMID:10431242|PMID:18854857|PMID:20979233|PMID:28492532|PMID:28981473 12009716 CCDC138 coiled-coil domain containing 138 gene DOID:0111665 ectodermal dysplasia 10B ISO RGD:1603550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive PMID:28492532 12009716 CCDC138 coiled-coil domain containing 138 gene DOID:630 genetic disease ISO RGD:1603550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12009716 CCDC138 coiled-coil domain containing 138 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1603550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ENCEPHALOPATHY, ACUTE NECROTIZING, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:28492532 12009736 LHFPL2 LHFPL tetraspan subfamily member 2 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1320443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 12009736 LHFPL2 LHFPL tetraspan subfamily member 2 gene DOID:0080600 COVID-19 ISO RGD:1320443 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12009736 LHFPL2 LHFPL tetraspan subfamily member 2 gene DOID:12800 mucopolysaccharidosis VI ISO RGD:1320443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 PMID:10036316|PMID:17458871|PMID:18486607|PMID:28492532 12009736 LHFPL2 LHFPL tetraspan subfamily member 2 gene DOID:2986 IgA glomerulonephritis ISO RGD:1320443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 12009736 LHFPL2 LHFPL tetraspan subfamily member 2 gene DOID:630 genetic disease ISO RGD:1320443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12009736 LHFPL2 LHFPL tetraspan subfamily member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12009748 PGD phosphogluconate dehydrogenase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1343939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12009748 PGD phosphogluconate dehydrogenase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1343939 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12009748 PGD phosphogluconate dehydrogenase gene DOID:0080600 COVID-19 ISO RGD:1343939 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12009748 PGD phosphogluconate dehydrogenase gene DOID:0111936 immunodeficiency 14 ISO RGD:1343939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 12009748 PGD phosphogluconate dehydrogenase gene DOID:630 genetic disease ISO RGD:1343939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12009748 PGD phosphogluconate dehydrogenase gene DOID:684 hepatocellular carcinoma ISO RGD:1343939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 12009767 LIPH lipase H gene DOID:0110698 hypotrichosis 1 ISO RGD:1320902 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypotrichosis simplex PMID:18830268|PMID:19892526|PMID:20213768|PMID:21352330|PMID:22449147|PMID:23590372|PMID:24033266|PMID:24722066|PMID:25201209|PMID:25271093|PMID:25741868|PMID:25899282 12009767 LIPH lipase H gene DOID:0110704 hypotrichosis 7 ISO RGD:1320902 D RGD:7240710 20180130 OMIM 12009767 LIPH lipase H gene DOID:0110704 hypotrichosis 7 ISO RGD:1320902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypotrichosis 7 PMID:17095700|PMID:17333281|PMID:18445047|PMID:18830268|PMID:19365138|PMID:19892526|PMID:20213768|PMID:21352330|PMID:21426374|PMID:22449147|PMID:23590372|PMID:24033266|PMID:24722066|PMID:25201209|PMID:25271093|PMID:25741868|PMID:25899282|PMID:28492532 12009767 LIPH lipase H gene DOID:0111546 Currarino syndrome ISO RGD:1320902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12009767 LIPH lipase H gene DOID:0111572 familial woolly hair syndrome ISO RGD:1320902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23066499 12009767 LIPH lipase H gene DOID:4535 hypotrichosis ISO RGD:1320902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Woolly hair, autosomal recessive 2, with or without hypotrichosis PMID:17333281|PMID:18445047|PMID:18830268|PMID:19365138|PMID:19892526|PMID:20213768|PMID:21352330|PMID:21426374|PMID:22449147|PMID:23590372|PMID:24033266|PMID:24722066|PMID:25201209|PMID:25271093|PMID:25741868|PMID:25899282|PMID:28492532 12009767 LIPH lipase H gene DOID:630 genetic disease ISO RGD:1320902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12009786 CBARP CACN subunit beta associated regulatory protein gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1316225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 12009786 CBARP CACN subunit beta associated regulatory protein gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1316225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome 12009786 CBARP CACN subunit beta associated regulatory protein gene DOID:5339 cyclic hematopoiesis ISO RGD:1316225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12009786 CBARP CACN subunit beta associated regulatory protein gene DOID:630 genetic disease ISO RGD:1316225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12009805 CDH7 cadherin 7 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1315712 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12009805 CDH7 cadherin 7 gene DOID:630 genetic disease ISO RGD:1315712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12009805 CDH7 cadherin 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12009805 CDH7 cadherin 7 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1315712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16015041 12009828 KDM4C lysine demethylase 4C gene DOID:0050902 medulloblastoma ISO RGD:1316776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 12009828 KDM4C lysine demethylase 4C gene DOID:0050902 medulloblastoma ISO RGD:1316776 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (human) PMID:19270706|REF_RGD_ID:9587481 12009828 KDM4C lysine demethylase 4C gene DOID:0060001 withdrawal disorder susceptibility ISO RGD:1316776 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:22072270|REF_RGD_ID:9587485 12009828 KDM4C lysine demethylase 4C gene DOID:0060221 Maffucci syndrome ISO RGD:1316776 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maffucci syndrome PMID:25741868 12009828 KDM4C lysine demethylase 4C gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1316776 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12009828 KDM4C lysine demethylase 4C gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1316776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 12009828 KDM4C lysine demethylase 4C gene DOID:10283 prostate cancer severity ISO RGD:1316776 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland (human) PMID:20127736|REF_RGD_ID:9587486 12009828 KDM4C lysine demethylase 4C gene DOID:11934 head and neck cancer susceptibility ISO RGD:1316776 D RGD:9068941 20200609 RGD DNA:snps:cds, intron:p.N396D (rs2296067), IVS10G>T (rs818912) (human) PMID:19339270|REF_RGD_ID:9587748 12009828 KDM4C lysine demethylase 4C gene DOID:12849 autistic disorder ISO RGD:1316776 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS8-3292G>A (rs1340513) (human) PMID:20410850|REF_RGD_ID:9587484 12009828 KDM4C lysine demethylase 4C gene DOID:1612 breast cancer severity ISO RGD:1316776 D RGD:9068941 20200609 RGD DNA:snp:cds:p.D396N (rs2296067) (human) PMID:24952432|REF_RGD_ID:9587745 12009828 KDM4C lysine demethylase 4C gene DOID:1909 melanoma ISO RGD:1316776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 12009828 KDM4C lysine demethylase 4C gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1316776 D RGD:9068941 20200609 RGD protein:increased expression:esophageal epithelium, nucleus (human) PMID:24224128|REF_RGD_ID:9587746 12009828 KDM4C lysine demethylase 4C gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1316776 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS8-3292G>A (rs1340513) (human) PMID:15805246|REF_RGD_ID:9587752 12009828 KDM4C lysine demethylase 4C gene DOID:4450 renal cell carcinoma ISO RGD:1316776 D RGD:9068941 20200609 RGD DNA:deletion:cds (human) PMID:22483639|REF_RGD_ID:9587741 12009828 KDM4C lysine demethylase 4C gene DOID:4624 Ollier disease ISO RGD:1316776 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Enchondromatosis PMID:25741868 12009828 KDM4C lysine demethylase 4C gene DOID:5517 stomach carcinoma severity ISO RGD:1316776 D RGD:9068941 20200609 RGD protein:increased expression:stomach (human) PMID:24418035|REF_RGD_ID:9588260 12009828 KDM4C lysine demethylase 4C gene DOID:630 genetic disease ISO RGD:1316776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12009828 KDM4C lysine demethylase 4C gene DOID:9004118 Experimental Melanoma ISO RGD:1316776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 12009828 KDM4C lysine demethylase 4C gene DOID:9008939 Breast Neoplasms ISO RGD:1316776 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:23129632|REF_RGD_ID:9587482 12009828 KDM4C lysine demethylase 4C gene DOID:9008939 Breast Neoplasms severity ISO RGD:1316776 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:19784073|REF_RGD_ID:9587479 12009828 KDM4C lysine demethylase 4C gene DOID:9268 glycine encephalopathy ISO RGD:1316776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:28492532 12009828 KDM4C lysine demethylase 4C gene DOID:986 alopecia areata ISO RGD:1316776 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:21936853|REF_RGD_ID:9587460 12009866 CCDC174 coiled-coil domain containing 174 gene DOID:0060417 3p deletion syndrome ISO RGD:1348248 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12009866 CCDC174 coiled-coil domain containing 174 gene DOID:630 genetic disease ISO RGD:1348248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12009866 CCDC174 coiled-coil domain containing 174 gene DOID:9001343 Infantile Hypotonia with Psychomotor Retardation ISO RGD:1348248 D RGD:7240710 20190315 OMIM 12009866 CCDC174 coiled-coil domain containing 174 gene DOID:9001343 Infantile Hypotonia with Psychomotor Retardation ISO RGD:1348248 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation PMID:25741868|PMID:26358778|PMID:28492532 12009881 PDGFD platelet derived growth factor D gene DOID:0080600 COVID-19 ISO RGD:1604286 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12009881 PDGFD platelet derived growth factor D gene DOID:10286 prostate carcinoma disease_progression ISO RGD:1604286 D RGD:9068941 20200609 RGD PMID:21098708|REF_RGD_ID:13506773 12009881 PDGFD platelet derived growth factor D gene DOID:1059 intellectual disability ISO RGD:1604286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12009881 PDGFD platelet derived growth factor D gene DOID:11132 prostatic hypertrophy disease_progression ISO RGD:1604286 D RGD:9068941 20200609 RGD PMID:22689130|REF_RGD_ID:13506770 12009881 PDGFD platelet derived growth factor D gene DOID:12704 ataxia telangiectasia ISO RGD:1604286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12009881 PDGFD platelet derived growth factor D gene DOID:1936 atherosclerosis ISO RGD:1604286 D RGD:9068941 20230128 RGD associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) PMID:33381146|REF_RGD_ID:155882464 12009881 PDGFD platelet derived growth factor D gene DOID:2921 glomerulonephritis ISO RGD:621880 D RGD:9068941 20200609 RGD PMID:21866094|REF_RGD_ID:9854633 12009881 PDGFD platelet derived growth factor D gene DOID:3393 coronary artery disease ISO RGD:1604286 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:21378988|PMID:34961328 12009881 PDGFD platelet derived growth factor D gene DOID:4783 mesangial proliferative glomerulonephritis ISO RGD:621880 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:glomerulus,serum: PMID:12937299|REF_RGD_ID:9854637 12009881 PDGFD platelet derived growth factor D gene DOID:4783 mesangial proliferative glomerulonephritis treatment ISO RGD:621880 D RGD:9068941 20200609 RGD PMID:17308324|REF_RGD_ID:9854629 12009881 PDGFD platelet derived growth factor D gene DOID:5082 liver cirrhosis ISO RGD:621880 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:17397961|REF_RGD_ID:9854631 12009881 PDGFD platelet derived growth factor D gene DOID:5426 primary ovarian insufficiency ISO RGD:1604286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 12009881 PDGFD platelet derived growth factor D gene DOID:5844 myocardial infarction ISO RGD:621880 D RGD:9068941 20200609 RGD mRNA,protein:altered expression:myocardium: PMID:21767547|REF_RGD_ID:9854703 12009881 PDGFD platelet derived growth factor D gene DOID:630 genetic disease ISO RGD:1604286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12009881 PDGFD platelet derived growth factor D gene DOID:9000310 Lung Injury ISO RGD:1604286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25280005 12009881 PDGFD platelet derived growth factor D gene DOID:9000612 Cardiac Allograft Vasculopathy ISO RGD:1604286 D RGD:9068941 20200609 RGD PMID:19213942|REF_RGD_ID:9854642 12009881 PDGFD platelet derived growth factor D gene DOID:9000784 Fibrosis ISO RGD:1604286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25280005 12009881 PDGFD platelet derived growth factor D gene DOID:9004283 Transplant Rejection ISO RGD:621880 D RGD:9068941 20200609 RGD PMID:19213942|REF_RGD_ID:9854642 12009881 PDGFD platelet derived growth factor D gene DOID:9005396 Intimal Hyperplasia ISO RGD:621880 D RGD:9068941 20200609 RGD protein:increased expression:smooth muscle cell: PMID:15752751|REF_RGD_ID:9854640 12009881 PDGFD platelet derived growth factor D gene DOID:9006182 Carotid Artery Injuries ISO RGD:621880 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery: PMID:18258854|REF_RGD_ID:9854624 12009881 PDGFD platelet derived growth factor D gene DOID:9007482 Bone Metastasis ISO RGD:1604286 D RGD:9068941 20200609 RGD associated with prostate carcinoma PMID:22158043|REF_RGD_ID:13506772 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:0050469 Costello syndrome ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Costello syndrome | ClinVar Annotator: match by term: FCS syndrome PMID:10716188|PMID:11150980|PMID:12835555|PMID:1362901|PMID:15491620|PMID:15843272|PMID:16155195|PMID:16170316|PMID:16199547|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16474405|PMID:16478791|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16921267|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17576681|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19995790|PMID:20112233|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20949621|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21779495|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22256804|PMID:22317973|PMID:22318994|PMID:22420426|PMID:22488832|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23321623|PMID:23335589|PMID:23406027|PMID:23412389|PMID:23429430|PMID:23487764|PMID:23548900|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24259709|PMID:24390138|PMID:24728327|PMID:24803665|PMID:25070542|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25668678|PMID:25695684|PMID:25741868|PMID:25742471|PMID:25815234|PMID:25914166|PMID:26001911|PMID:26467025|PMID:26467218|PMID:26561417|PMID:26580448|PMID:26619011|PMID:26633542|PMID:2674130|PMID:26778095|PMID:26806338|PMID:26888048|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27468687|PMID:27589201|PMID:28002430|PMID:28027064|PMID:28139825|PMID:28179458|PMID:28328122|PMID:28371260|PMID:28390077|PMID:28489335|PMID:28492532|PMID:29493581|PMID:2999610|PMID:3004741|PMID:30055033|PMID:30138938|PMID:3018526|PMID:30732632|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32313153|PMID:32371413|PMID:3283542|PMID:3304147|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6287572|PMID:6287573|PMID:6288698|PMID:6330729|PMID:7177195|PMID:8605880|PMID:8626650|PMID:8960317|PMID:9536098 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:0050729 neutral lipid storage disease ISO RGD:1604547 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:0060581 Noonan syndrome 3 ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 3 PMID:12727991|PMID:1904555|PMID:19855393|PMID:25157968|PMID:26619011|PMID:31775759|PMID:3510078 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:0080690 RASopathy ISO RGD:1604547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25914166|PMID:26561417|PMID:26580448|PMID:26619011|PMID:26916728|PMID:27102959|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:0080690 RASopathy ISO RGD:1604547 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: RASopathy PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26580448|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:0080690 RASopathy ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26580448|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:0080773 delta beta-thalassemia ISO RGD:1604547 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:0111162 epidermal nevus ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC | ClinVar Annotator: match by term: Nevus sebaceous | ClinVar Annotator: match by term: Woolly hair nevus PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:0111359 large congenital melanocytic nevus ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital giant melanocytic nevus | ClinVar Annotator: match by term: Large congenital melanocytic nevus PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25742471|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:0111530 linear nevus sebaceous syndrome ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Linear nevus sebaceous | ClinVar Annotator: match by term: Linear nevus sebaceous syndrome | ClinVar Annotator: match by term: Organoid nevus phakomatosis PMID:12835555|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:0111854 primary ciliary dyskinesia 39 ISO RGD:1604547 D RGD:7240710 20190315 OMIM 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:0111854 primary ciliary dyskinesia 39 ISO RGD:1604547 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 39 PMID:25741868|PMID:28492532|PMID:30388400 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:0111969 immunodeficiency 39 ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:12835555|PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19773371|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21850009|PMID:22256804|PMID:22499344|PMID:22683711|PMID:22726224|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26619011|PMID:27283355|PMID:27444071|PMID:28492532|PMID:29493581|PMID:31775759 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:1059 intellectual disability ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:11054 urinary bladder cancer ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder | ClinVar Annotator: match by term: Urinary bladder cancer PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:31394527|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:1107 esophageal carcinoma ISO RGD:1604547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:1107 esophageal carcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:14566 disease of cellular proliferation ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:1904555|PMID:19213030|PMID:19255327|PMID:19773371|PMID:21438134|PMID:21495179|PMID:21850009|PMID:23093928|PMID:23406027|PMID:23429430|PMID:24006476|PMID:24033266|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29493581|PMID:3510078 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:1909 melanoma ISO RGD:1604547 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:1909 melanoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:2394 ovarian cancer ISO RGD:1604547 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:2526 prostate adenocarcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:2671 transitional cell carcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:3068 glioblastoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:3247 rhabdomyosarcoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22683711|PMID:23093928|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:3275 thymoma ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thymoma PMID:20859122|PMID:24224811|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27283355|PMID:31775759 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:3490 Noonan syndrome ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19773371|PMID:21438134|PMID:21495179|PMID:21850009|PMID:23093928|PMID:23406027|PMID:23429430|PMID:24033266|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26580448|PMID:26619011|PMID:28492532|PMID:29493581 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:363 uterine cancer ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:3717 gastric adenocarcinoma ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:3717 gastric adenocarcinoma ISO RGD:1604547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:3717 gastric adenocarcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:12835555|PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:1904555|PMID:19213030|PMID:19255327|PMID:19773371|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21850009|PMID:22256804|PMID:22499344|PMID:22683711|PMID:22726224|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:26619011|PMID:27283355|PMID:27444071|PMID:28492532|PMID:29493581|PMID:31775759|PMID:3510078 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:10716188|PMID:21779495|PMID:24033266|PMID:25741868|PMID:2674130|PMID:28492532|PMID:29493581|PMID:3004741|PMID:3283542|PMID:3304147|PMID:6287572|PMID:6287573|PMID:6288698 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:3910 lung adenocarcinoma ISO RGD:1604547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:3910 lung adenocarcinoma ISO RGD:1604547 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892|PMID:3510078 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:3910 lung adenocarcinoma ISO RGD:1604547 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:3910 lung adenocarcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:4007 bladder carcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Urinary bladder carcinoma PMID:16170316|PMID:16372351|PMID:16443854|PMID:16835863|PMID:17601930|PMID:18039947|PMID:18042262|PMID:19382114|PMID:21850009|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23429430|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28027064|PMID:28492532|PMID:31394527 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:4465 papillary renal cell carcinoma ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:4465 papillary renal cell carcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1604547 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:5834 spermatocytoma ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatocytic seminoma PMID:12727991|PMID:19855393|PMID:25157968|PMID:31775759 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:6171 uterine carcinosarcoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:630 genetic disease ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17576681|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22683711|PMID:23093928|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24259709|PMID:24803665|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:8605880|PMID:9536098 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:6420 pulmonary valve stenosis ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:28492532 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:6536 plasma cell neoplasm ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:684 hepatocellular carcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:7608 parathyroid adenoma ISO RGD:1604547 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Parathyroid adenoma PMID:25741868|PMID:35738466 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:8923 skin melanoma ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:8923 skin melanoma ISO RGD:1604547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:8923 skin melanoma ISO RGD:1604547 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:8923 skin melanoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:1604547 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets PMID:25741868|PMID:35738466 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:12835555|PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19773371|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21850009|PMID:22256804|PMID:22499344|PMID:22683711|PMID:22726224|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26619011|PMID:27283355|PMID:27444071|PMID:28492532|PMID:29493581|PMID:31775759 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:9002650 Sebaceous Nevus Syndrome and Hemimegalencephaly ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly PMID:12835555|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salivary gland neoplasm PMID:17384584|PMID:19255327|PMID:19773371|PMID:23406027|PMID:24006476|PMID:25157968|PMID:25695684|PMID:25741868 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:9003571 Paraproteinemias ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16478791|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28489335|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:3018526|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:1604547 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:9005120 Pigmented Nevus ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PIGMENTED MOLES PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nasopharyngeal Neoplasms PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:9005820 Congenital Myopathy with Excess of Muscle Spindles ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, with excess of muscle spindles PMID:11150980|PMID:1362901|PMID:15843272|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17384584|PMID:17412879|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19255327|PMID:19371735|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20979192|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:23406027|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25070542|PMID:25157968|PMID:25668678|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26001911|PMID:26467025|PMID:26619011|PMID:26778095|PMID:28139825|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8626650|PMID:8960317 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 2 | ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 PMID:12727991|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:19855393|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604547 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:21403836|PMID:24033266|PMID:25346259|PMID:25741868|PMID:25742471|PMID:26580448|PMID:28492532 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:21403836|PMID:24033266|PMID:25346259|PMID:25741868|PMID:25742471|PMID:26580448|PMID:28492532|PMID:9536098 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:9008386 Hydrops Fetalis ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal edema PMID:12835555|PMID:16170316|PMID:16329078|PMID:16443854|PMID:17384584|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18642361|PMID:19255327|PMID:19773371|PMID:20658932|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25157968|PMID:25741868|PMID:26561417|PMID:26619011|PMID:26916728|PMID:27102959|PMID:27444071|PMID:28371260|PMID:28492532|PMID:31222966|PMID:31775759 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16478791|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28371260|PMID:28489335|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:3018526|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:9008939 Breast Neoplasms ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:9009116 Urinary Bladder Neoplasm ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Urinary Bladder Neoplasms PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:31394527|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:9119 acute myeloid leukemia ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:9119 acute myeloid leukemia ISO RGD:1604547 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:9119 acute myeloid leukemia ISO RGD:1604547 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:9119 acute myeloid leukemia ISO RGD:1604547 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:9119 acute myeloid leukemia ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:9538 multiple myeloma ISO RGD:1604547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:9538 multiple myeloma ISO RGD:1604547 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:9538 multiple myeloma ISO RGD:1604547 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12009895 LRRC56 leucine rich repeat containing 56 gene DOID:9538 multiple myeloma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12009918 H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1315252 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12009918 H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1315252 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12009918 H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:0090139 cortisone reductase deficiency ISO RGD:1315252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12009918 H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:0090139 cortisone reductase deficiency ISO RGD:1315252 D RGD:9068941 20200609 RGD DNA:point mutation:CDS:p.R453Q (human) PMID:12858176|REF_RGD_ID:1625067 12009918 H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:0090141 cortisone reductase deficiency 1 ISO RGD:1315252 D RGD:7240710 20180802 OMIM 12009918 H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:0090141 cortisone reductase deficiency 1 ISO RGD:1315252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cortisone reductase deficiency 1 PMID:10522997|PMID:11150889|PMID:12858176|PMID:15827106|PMID:16091483|PMID:16356929|PMID:16817821|PMID:17062770|PMID:18628520|PMID:25741868|PMID:28492532 12009918 H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:2377 multiple sclerosis ISO RGD:1315252 D RGD:9068941 20200609 RGD DNA:SNP:exon: rs17368528 (human) PMID:19935835|REF_RGD_ID:6784513 12009918 H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:630 genetic disease ISO RGD:1315252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12009918 H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12009918 H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1306562 D RGD:9068941 20200609 RGD PMID:20923496|REF_RGD_ID:6784507 12009918 H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:9008939 Breast Neoplasms ISO RGD:1315252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29295867 12009933 SGCE sarcoglycan epsilon gene DOID:0090033 myoclonic dystonia ISO RGD:1352882 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism 12009933 SGCE sarcoglycan epsilon gene DOID:0090034 myoclonic dystonia 11 ISO RGD:1352882 D RGD:7240710 20220629 OMIM 12009933 SGCE sarcoglycan epsilon gene DOID:0090034 myoclonic dystonia 11 ISO RGD:1352882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 11 PMID:10220438|PMID:10716258|PMID:11022010|PMID:11523564|PMID:11528394|PMID:12325078|PMID:12391338|PMID:12391355|PMID:12402271|PMID:12743249|PMID:12821748|PMID:12874409|PMID:15079037|PMID:15389977|PMID:15728306|PMID:16199547|PMID:16227522|PMID:16240355|PMID:17101905|PMID:17296918|PMID:17576681|PMID:17853490|PMID:18175340|PMID:18205193|PMID:18349702|PMID:18355305|PMID:18362280|PMID:19066193|PMID:19117362|PMID:19133653|PMID:19147379|PMID:21796726|PMID:22026499|PMID:22259621|PMID:23365103|PMID:2367709|PMID:23677909|PMID:23748201|PMID:24297365|PMID:24759409|PMID:25401298|PMID:25406829|PMID:25741868|PMID:26046366|PMID:26467025|PMID:27441098|PMID:28155872|PMID:28492532|PMID:29607243|PMID:30849405|PMID:31186545|PMID:32927286|PMID:33200041|PMID:9536098|PMID:9750929 12009933 SGCE sarcoglycan epsilon gene DOID:10534 stomach cancer severity ISO RGD:1352882 D RGD:9068941 20220616 RGD mRNA:altered expression:stomach tumor (human) PMID:28035468|REF_RGD_ID:152995287 12009933 SGCE sarcoglycan epsilon gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1352882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:28492532 12009933 SGCE sarcoglycan epsilon gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12009933 SGCE sarcoglycan epsilon gene DOID:630 genetic disease ISO RGD:1352882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11528394|PMID:12821748|PMID:15389977|PMID:15728306|PMID:17296918|PMID:17853490|PMID:18205193|PMID:23748201|PMID:24297365|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9750929 12009948 RNGTT RNA guanylyltransferase and 5'-phosphatase gene DOID:630 genetic disease ISO RGD:1322859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12009969 CST9 cystatin 9 gene DOID:630 genetic disease ISO RGD:1606729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12009975 KDM1A lysine demethylase 1A gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1346422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29581250 12009975 KDM1A lysine demethylase 1A gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1346422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 12009975 KDM1A lysine demethylase 1A gene DOID:1059 intellectual disability ISO RGD:1346422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12009975 KDM1A lysine demethylase 1A gene DOID:1612 breast cancer ISO RGD:1562975 D RGD:9068941 20200609 RGD protein:increased expression:breast (rat) PMID:23516587|REF_RGD_ID:9588313 12009975 KDM1A lysine demethylase 1A gene DOID:1612 breast cancer severity ISO RGD:1346422 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:22199269|REF_RGD_ID:9586031 12009975 KDM1A lysine demethylase 1A gene DOID:1909 melanoma ISO RGD:1346422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 12009975 KDM1A lysine demethylase 1A gene DOID:224 transient cerebral ischemia ISO RGD:1562975 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, hippocampus, dentate gyrus (rat) PMID:20542065|REF_RGD_ID:9588301 12009975 KDM1A lysine demethylase 1A gene DOID:3908 lung non-small cell carcinoma ISO RGD:1346422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22493729 12009975 KDM1A lysine demethylase 1A gene DOID:5419 schizophrenia ISO RGD:1562975 D RGD:9068941 20200609 RGD protein:altered expression:prefrontal cortex (rat) PMID:23932495|REF_RGD_ID:9586022 12009975 KDM1A lysine demethylase 1A gene DOID:630 genetic disease ISO RGD:1346422 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 12009975 KDM1A lysine demethylase 1A gene DOID:684 hepatocellular carcinoma severity ISO RGD:1346422 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (human) PMID:23236241|REF_RGD_ID:9681002 12009975 KDM1A lysine demethylase 1A gene DOID:8947 diabetic retinopathy ISO RGD:1346422 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (human) PMID:23423566|REF_RGD_ID:8547881 12009975 KDM1A lysine demethylase 1A gene DOID:8947 diabetic retinopathy ISO RGD:1558503 D RGD:9068941 20200609 RGD PMID:23423566|REF_RGD_ID:8547881 12009975 KDM1A lysine demethylase 1A gene DOID:8947 diabetic retinopathy ISO RGD:1562975 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina (rat) PMID:23423566|REF_RGD_ID:8547881 12009975 KDM1A lysine demethylase 1A gene DOID:9000918 Disease Progression ISO RGD:1346422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22493729 12009975 KDM1A lysine demethylase 1A gene DOID:9001445 Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features ISO RGD:1346422 D RGD:7240710 20180130 OMIM 12009975 KDM1A lysine demethylase 1A gene DOID:9001445 Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features ISO RGD:1346422 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cleft palate, psychomotor retardation, and distinctive facial features | ClinVar Annotator: match by term: Neurodevelopmental and congenital anomalies PMID:23020937|PMID:24838796|PMID:25741868|PMID:26656649|PMID:27094131|PMID:28492532 12009975 KDM1A lysine demethylase 1A gene DOID:9001827 Critical Illness ISO RGD:1346422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22493729 12009975 KDM1A lysine demethylase 1A gene DOID:9002221 Hyperplasia ISO RGD:1346422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22493729 12009975 KDM1A lysine demethylase 1A gene DOID:9002928 Colonic Neoplasms ISO RGD:1346422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25043185 12009975 KDM1A lysine demethylase 1A gene DOID:9004118 Experimental Melanoma ISO RGD:1346422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 12009975 KDM1A lysine demethylase 1A gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1346422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22493729 12009975 KDM1A lysine demethylase 1A gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1346422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12009975 KDM1A lysine demethylase 1A gene DOID:9008086 Developmental Disabilities ISO RGD:1346422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12009975 KDM1A lysine demethylase 1A gene DOID:986 alopecia areata ISO RGD:1346422 D RGD:9068941 20200609 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:21936853|REF_RGD_ID:9587460 12010003 ZNF382 zinc finger protein 382 gene DOID:630 genetic disease ISO RGD:1352355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12010027 ELOVL5 ELOVL fatty acid elongase 5 gene DOID:0050985 spinocerebellar ataxia type 38 ISO RGD:1353049 D RGD:7240710 20180130 OMIM 12010027 ELOVL5 ELOVL fatty acid elongase 5 gene DOID:0050985 spinocerebellar ataxia type 38 ISO RGD:1353049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 38 PMID:25065913|PMID:25741868|PMID:28492532|PMID:31294938 12010027 ELOVL5 ELOVL fatty acid elongase 5 gene DOID:2661 myoepithelioma ISO RGD:1353049 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12010027 ELOVL5 ELOVL fatty acid elongase 5 gene DOID:630 genetic disease ISO RGD:1353049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12010027 ELOVL5 ELOVL fatty acid elongase 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12010027 ELOVL5 ELOVL fatty acid elongase 5 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1353049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12010093 RAB40A RAB40A, member RAS oncogene family gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12010093 RAB40A RAB40A, member RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:1354221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12010093 RAB40A RAB40A, member RAS oncogene family gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1354221 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:31690835|PMID:9633722|PMID:9634530 12010093 RAB40A RAB40A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1354221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12010093 RAB40A RAB40A, member RAS oncogene family gene DOID:9008086 Developmental Disabilities ISO RGD:1354221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12010098 ZNF761 zinc finger protein 761 gene DOID:630 genetic disease ISO RGD:1603831 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12010119 ASL argininosuccinate lyase gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:731559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C PMID:25741868|PMID:34008892 12010119 ASL argininosuccinate lyase gene DOID:12803 Sly syndrome ISO RGD:731559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sly syndrome PMID:19224584|PMID:28492532 12010119 ASL argininosuccinate lyase gene DOID:14755 argininosuccinic aciduria ISO RGD:731559 D RGD:7240710 20180130 OMIM 12010119 ASL argininosuccinate lyase gene DOID:14755 argininosuccinic aciduria ISO RGD:731559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency | ClinVar Annotator: match by term: Argininosuccinic Aciduria PMID:10896281|PMID:11698398|PMID:11747432|PMID:11747433|PMID:12384776|PMID:12408190|PMID:15164414|PMID:15273245|PMID:16199547|PMID:16435180|PMID:16941645|PMID:1705937|PMID:17326097|PMID:17551924|PMID:17576681|PMID:18042262|PMID:18616627|PMID:19224584|PMID:19703900|PMID:20236848|PMID:20298553|PMID:21290785|PMID:21667091|PMID:21710918|PMID:21744316|PMID:22081021|PMID:22231378|PMID:22541557|PMID:2263616|PMID:23430928|PMID:24033266|PMID:24136197|PMID:24166829|PMID:24516753|PMID:24927999|PMID:25087612|PMID:25433810|PMID:25525159|PMID:25741868|PMID:25778938|PMID:26661037|PMID:26745957|PMID:26843370|PMID:27515243|PMID:28251416|PMID:28492532|PMID:28600779|PMID:29326055|PMID:29493581|PMID:29773863|PMID:30285816|PMID:31030429|PMID:31056765|PMID:31130284|PMID:31156699|PMID:31183366|PMID:31426867|PMID:31515792|PMID:31589614|PMID:31709144|PMID:31943503|PMID:31980526|PMID:31990680|PMID:32778825|PMID:33373331|PMID:33514801|PMID:33611823|PMID:33851512|PMID:34405919|PMID:705937|PMID:9045711|PMID:9256435|PMID:9536098|PMID:9686346 12010119 ASL argininosuccinate lyase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12010119 ASL argininosuccinate lyase gene DOID:630 genetic disease ISO RGD:731559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11747432|PMID:17551924|PMID:18042262|PMID:20236848|PMID:24166829|PMID:25741868|PMID:25778938|PMID:26661037|PMID:28251416|PMID:28492532|PMID:29493581|PMID:30285816|PMID:31056765|PMID:31943503|PMID:34405919 12010119 ASL argininosuccinate lyase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:731559 D RGD:9068941 20220616 RGD associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 12010119 ASL argininosuccinate lyase gene DOID:9002669 Hypoxia ISO RGD:619974 D RGD:9068941 20200609 RGD protein:increased activity:brain (rat) PMID:20567615|REF_RGD_ID:4110824 12010119 ASL argininosuccinate lyase gene DOID:9004009 Reperfusion Injury resistance ISO RGD:619974 D RGD:9068941 20200609 RGD protein:increased expression:brain, neuron (rat) PMID:17198704|REF_RGD_ID:1599263 12010119 ASL argininosuccinate lyase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731559 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:12384776|PMID:16941645|PMID:1705937|PMID:21710918|PMID:24166829|PMID:25741868|PMID:28492532|PMID:31943503|PMID:9045711 12010119 ASL argininosuccinate lyase gene DOID:9005930 Endotoxemia ISO RGD:619974 D RGD:9068941 20200609 RGD PMID:10652239|REF_RGD_ID:1599265 12010119 ASL argininosuccinate lyase gene DOID:9007480 Hyperoxia ISO RGD:619974 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:20805789|REF_RGD_ID:4142785 12010119 ASL argininosuccinate lyase gene DOID:9007874 Liver Failure ISO RGD:619974 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:11779202|REF_RGD_ID:70249 12010119 ASL argininosuccinate lyase gene DOID:9252 amino acid metabolic disorder ISO RGD:731559 D RGD:9068941 20200609 RGD Argininosuccinic Aciduria; DNA:mutations:multiple (human) PMID:2263616|REF_RGD_ID:734610 12010119 ASL argininosuccinate lyase gene DOID:9352 type 2 diabetes mellitus ISO RGD:731559 D RGD:9068941 20200609 RGD mRNA:increased expression:leukocyte PMID:16121806|REF_RGD_ID:2314010 12010162 LDOC1 LDOC1 regulator of NFKB signaling gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12010162 LDOC1 LDOC1 regulator of NFKB signaling gene DOID:12849 autistic disorder ISO RGD:1344664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12010162 LDOC1 LDOC1 regulator of NFKB signaling gene DOID:630 genetic disease ISO RGD:1344664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12010177 UBAC1 UBA domain containing 1 gene DOID:0050777 Joubert syndrome ISO RGD:1346576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12010177 UBAC1 UBA domain containing 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1346576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:27891178|PMID:28492532|PMID:31209758 12010177 UBAC1 UBA domain containing 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1346576 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12010177 UBAC1 UBA domain containing 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1346576 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12010177 UBAC1 UBA domain containing 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1346576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12010177 UBAC1 UBA domain containing 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1346576 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12010177 UBAC1 UBA domain containing 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1346576 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12010177 UBAC1 UBA domain containing 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1346576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12010177 UBAC1 UBA domain containing 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1346576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 12010177 UBAC1 UBA domain containing 1 gene DOID:3652 Leigh disease ISO RGD:1346576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12010177 UBAC1 UBA domain containing 1 gene DOID:630 genetic disease ISO RGD:1346576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12010177 UBAC1 UBA domain containing 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1346576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 12010191 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:1604194 D RGD:9068941 20220630 RGD protein:increased expression:colon (human) PMID:27729429|REF_RGD_ID:152995521 12010191 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:10534 stomach cancer severity ISO RGD:1604194 D RGD:9068941 20220623 RGD associated with Lymphatic Metastasis;protein:increased expression:gastric tumor, lymph node (human) PMID:32588907|REF_RGD_ID:152995444 12010191 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:10534 stomach cancer severity ISO RGD:1604194 D RGD:9068941 20220623 RGD protein:increased expression:gastric tumor (human) PMID:26159923|REF_RGD_ID:152995448 12010191 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:1324 lung cancer ISO RGD:1604194 D RGD:9068941 20220630 RGD DNA:amplification: :lung (human) PMID:26370156|REF_RGD_ID:11535413 12010191 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:219 colon cancer ISO RGD:1604194 D RGD:9068941 20220623 RGD protein:increased expression:colon (human) PMID:24244675|REF_RGD_ID:152995458 12010191 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:219 colon cancer ISO RGD:1604194 D RGD:9068941 20220630 RGD human cells in mouse model PMID:20226010|REF_RGD_ID:152995494 12010191 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:219 colon cancer severity ISO RGD:1604194 D RGD:9068941 20220623 RGD mRNA:increased expression:colon (human) PMID:31932471|REF_RGD_ID:152995462 12010191 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:3007 breast ductal carcinoma ISO RGD:1604194 D RGD:9068941 20220623 RGD associated with lymphatic metastasis; protein:increased expression:breast tumor, lymph node (human) PMID:20978191|REF_RGD_ID:152995469 12010191 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:3121 gallbladder cancer ISO RGD:1604194 D RGD:9068941 20220630 RGD DNA:CNV, amplification:exon (human) PMID:24508317|REF_RGD_ID:152995522 12010191 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:1604194 D RGD:9068941 20220630 RGD protein:increased expression:lung (human) PMID:29885404|REF_RGD_ID:152995523 12010191 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1604194 D RGD:9068941 20220623 RGD human cells in mouse model PMID:30119206|REF_RGD_ID:152995460 12010191 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1604194 D RGD:9068941 20220630 RGD protein:increased expression:esophagus (human) PMID:32642408|REF_RGD_ID:152995512 12010191 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1604194 D RGD:9068941 20220623 RGD protein:increased expression:esophagus (human) PMID:28132115|REF_RGD_ID:152995470 12010191 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:5409 lung small cell carcinoma severity ISO RGD:1604194 D RGD:9068941 20220623 RGD associated with Neoplasm Metastasis; protein:increased expression:lung, lymph node (human) PMID:31454632|REF_RGD_ID:152995447 12010191 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:5409 lung small cell carcinoma severity ISO RGD:1604194 D RGD:9068941 20220630 RGD DNA:CNV, amplification:exon (human) PMID:27863413|REF_RGD_ID:152995517 12010191 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1604194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12010191 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:630 genetic disease ISO RGD:1604194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12010191 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1556939 D RGD:9068941 20220630 RGD PMID:29303510|REF_RGD_ID:152995524 12010191 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1604194 D RGD:9068941 20220623 RGD mRNA, protein:increased expression:liver (human) PMID:25371154|REF_RGD_ID:152995471 12010191 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:8649 tongue cancer disease_progression ISO RGD:1604194 D RGD:9068941 20220630 RGD protein:increased expression:tongue (human) PMID:25749387|REF_RGD_ID:152995520 12010191 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1604194 D RGD:9068941 20220623 RGD associated with breast ductal carcinoma; protein:increased expression:breast tumor, lymph node (human) PMID:20978191|REF_RGD_ID:152995469 12010191 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:9002170 Experimental Neoplasms disease_progression ISO RGD:1556939 D RGD:9068941 20220623 RGD PMID:24244675|REF_RGD_ID:152995458 12010191 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12010191 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:9006618 Liver Metastasis ISO RGD:1556939 D RGD:9068941 20220623 RGD PMID:30404068|REF_RGD_ID:152995463 12010191 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:9006618 Liver Metastasis disease_progression ISO RGD:1604194 D RGD:9068941 20220623 RGD mRNA:increased expression:liver (human) PMID:30404068|REF_RGD_ID:152995463 12010191 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:9009121 lung metastasis ISO RGD:1556939 D RGD:9068941 20220630 RGD PMID:29809146|REF_RGD_ID:152995516 12010191 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:9009121 lung metastasis ISO RGD:1604194 D RGD:9068941 20220623 RGD human cells in mouse model PMID:20978191|REF_RGD_ID:152995469 12010191 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1604194 D RGD:9068941 20220630 RGD associated with Lymphatic Metastasis; protein:increased expression:colon (human) PMID:27063170|REF_RGD_ID:152995519 12010243 OSBPL6 oxysterol binding protein like 6 gene DOID:630 genetic disease ISO RGD:1318914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12010287 HOMEZ homeobox and leucine zipper encoding gene DOID:0060439 lysinuric protein intolerance ISO RGD:735425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12010287 HOMEZ homeobox and leucine zipper encoding gene DOID:630 genetic disease ISO RGD:735425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12010287 HOMEZ homeobox and leucine zipper encoding gene DOID:9000265 Specific Granule Deficiency ISO RGD:735425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 12010287 HOMEZ homeobox and leucine zipper encoding gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:735425 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12010296 ABCC5 ATP binding cassette subfamily C member 5 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:734363 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12010296 ABCC5 ATP binding cassette subfamily C member 5 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:734363 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12010296 ABCC5 ATP binding cassette subfamily C member 5 gene DOID:0111546 Currarino syndrome ISO RGD:734363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12010296 ABCC5 ATP binding cassette subfamily C member 5 gene DOID:1793 pancreatic cancer ISO RGD:734363 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:15688370|REF_RGD_ID:2325200 12010296 ABCC5 ATP binding cassette subfamily C member 5 gene DOID:630 genetic disease ISO RGD:734363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12010296 ABCC5 ATP binding cassette subfamily C member 5 gene DOID:7148 rheumatoid arthritis ISO RGD:734363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 12010296 ABCC5 ATP binding cassette subfamily C member 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12010296 ABCC5 ATP binding cassette subfamily C member 5 gene DOID:9004009 Reperfusion Injury ISO RGD:70913 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain, neuron PMID:16997484|REF_RGD_ID:2301088 12010296 ABCC5 ATP binding cassette subfamily C member 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:734363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12010337 POGLUT3 protein O-glucosyltransferase 3 gene DOID:1059 intellectual disability ISO RGD:1347684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12010337 POGLUT3 protein O-glucosyltransferase 3 gene DOID:12704 ataxia telangiectasia ISO RGD:1347684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12010337 POGLUT3 protein O-glucosyltransferase 3 gene DOID:14723 beta-ketothiolase deficiency ISO RGD:1347684 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:28492532 12010337 POGLUT3 protein O-glucosyltransferase 3 gene DOID:630 genetic disease ISO RGD:1347684 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12010337 POGLUT3 protein O-glucosyltransferase 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1347684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12010355 RDH5 retinol dehydrogenase 5 gene DOID:10584 retinitis pigmentosa ISO RGD:1318857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:30718709 12010355 RDH5 retinol dehydrogenase 5 gene DOID:11105 fundus albipunctatus ISO RGD:1318857 D RGD:7240710 20180130 OMIM 12010355 RDH5 retinol dehydrogenase 5 gene DOID:11105 fundus albipunctatus ISO RGD:1318857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fundus albipunctatus, autosomal recessive | ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens PMID:10369264|PMID:10617778|PMID:11053295|PMID:11053296|PMID:11078852|PMID:11153648|PMID:11470705|PMID:11675386|PMID:11812441|PMID:12860821|PMID:14991316|PMID:15007239|PMID:15302662|PMID:15790919|PMID:17476461|PMID:18949499|PMID:20829743|PMID:21529959|PMID:22669287|PMID:22736946|PMID:22815624|PMID:2336278|PMID:24033266|PMID:25170858|PMID:25587058|PMID:25741868|PMID:25820994|PMID:27627638|PMID:28393863|PMID:28492532|PMID:29847639|PMID:302784|PMID:30718709|PMID:32232344 12010355 RDH5 retinol dehydrogenase 5 gene DOID:11830 myopia ISO RGD:1318857 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 12010355 RDH5 retinol dehydrogenase 5 gene DOID:630 genetic disease ISO RGD:1318857 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12010355 RDH5 retinol dehydrogenase 5 gene DOID:8499 night blindness ISO RGD:1318857 D RGD:9068941 20200609 RGD fundus albipunctatus (congenital night-blindness disorder), OMIM:601617 Gly238Trp, Arg280His, Ala294Pro PMID:10617778|REF_RGD_ID:1599416 12010355 RDH5 retinol dehydrogenase 5 gene DOID:8501 fundus dystrophy ISO RGD:1318857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11675386|PMID:20829743|PMID:22815624|PMID:23462753|PMID:24603341|PMID:28418496|PMID:28492532|PMID:29847639 12010355 RDH5 retinol dehydrogenase 5 gene DOID:9005835 Congenital Abnormalities ISO RGD:1318857 D RGD:9068941 20200609 RGD fundus albipunctatus (congenital night-blindness disorder), OMIM:601617 Gly238Trp, Arg280His, Ala294Pro PMID:10617778|REF_RGD_ID:1599416 12010366 SOWAHA sosondowah ankyrin repeat domain family member A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602435 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12010366 SOWAHA sosondowah ankyrin repeat domain family member A gene DOID:630 genetic disease ISO RGD:1602435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12010366 SOWAHA sosondowah ankyrin repeat domain family member A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12010366 SOWAHA sosondowah ankyrin repeat domain family member A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602435 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12010371 MUS81 MUS81 structure-specific endonuclease subunit gene DOID:0050645 arterial tortuosity syndrome ISO RGD:1323680 D RGD:9068941 20220825 MouseDO OMIM:208050 12010371 MUS81 MUS81 structure-specific endonuclease subunit gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1323679 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:15776121|PMID:20389311|PMID:21563328|PMID:25741868|PMID:28492532 12010371 MUS81 MUS81 structure-specific endonuclease subunit gene DOID:0070135 autosomal recessive cutis laxa type IA ISO RGD:1323679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1A PMID:15776121|PMID:20389311|PMID:21563328|PMID:28492532 12010371 MUS81 MUS81 structure-specific endonuclease subunit gene DOID:1059 intellectual disability ISO RGD:1323679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12010371 MUS81 MUS81 structure-specific endonuclease subunit gene DOID:14323 Marfan syndrome ISO RGD:1323680 D RGD:9068941 20220825 MouseDO OMIM:154700 12010371 MUS81 MUS81 structure-specific endonuclease subunit gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1323679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12010371 MUS81 MUS81 structure-specific endonuclease subunit gene DOID:2746 glycogen storage disease V ISO RGD:1323679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12010371 MUS81 MUS81 structure-specific endonuclease subunit gene DOID:630 genetic disease ISO RGD:1323679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12010371 MUS81 MUS81 structure-specific endonuclease subunit gene DOID:9002034 Autosomal Recessive Cutis Laxa ISO RGD:1323679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, recessive 12010371 MUS81 MUS81 structure-specific endonuclease subunit gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1323679 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12010371 MUS81 MUS81 structure-specific endonuclease subunit gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1323679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 12010371 MUS81 MUS81 structure-specific endonuclease subunit gene DOID:9675 pulmonary emphysema ISO RGD:1323680 D RGD:9068941 20220825 MouseDO OMIM:130700 12010400 MAPK4 mitogen-activated protein kinase 4 gene DOID:1059 intellectual disability ISO RGD:736964 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12010400 MAPK4 mitogen-activated protein kinase 4 gene DOID:630 genetic disease ISO RGD:736964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12010424 TAFA5 TAFA chemokine like family member 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1342880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984751|PMID:25255310 12010424 TAFA5 TAFA chemokine like family member 5 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1342880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12010424 TAFA5 TAFA chemokine like family member 5 gene DOID:1059 intellectual disability ISO RGD:1342880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12010432 HAUS8 HAUS augmin like complex subunit 8 gene DOID:630 genetic disease ISO RGD:1604254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12010458 SERPINA4 serpin family A member 4 gene DOID:0081063 DICER1 syndrome ISO RGD:1348774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 12010458 SERPINA4 serpin family A member 4 gene DOID:1790 malignant mesothelioma ISO RGD:1348774 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 12010458 SERPINA4 serpin family A member 4 gene DOID:630 genetic disease ISO RGD:1348774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12010458 SERPINA4 serpin family A member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1348774 D RGD:9068941 20200611 CTD CTD Direct Evidence: therapeutic PMID:19709125 12010458 SERPINA4 serpin family A member 4 gene DOID:8947 diabetic retinopathy ISO RGD:1348774 D RGD:9068941 20200611 RGD protein:decreased expression:vitreous fluid (human) PMID:8950506|REF_RGD_ID:1580289 12010458 SERPINA4 serpin family A member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348774 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12010504 HECA hdc homolog, cell cycle regulator gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1312483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12010504 HECA hdc homolog, cell cycle regulator gene DOID:630 genetic disease ISO RGD:1312483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12010512 LOC100968792 olfactory receptor 10H2 gene DOID:630 genetic disease ISO RGD:1350293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12010518 HIF1AN hypoxia inducible factor 1 subunit alpha inhibitor gene DOID:0090006 renal coloboma syndrome ISO RGD:1317966 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Renal coloboma syndrome PMID:11461952|PMID:24676634|PMID:28492532 12010518 HIF1AN hypoxia inducible factor 1 subunit alpha inhibitor gene DOID:630 genetic disease ISO RGD:1317966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12010530 CPNE6 copine 6 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1313396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12010530 CPNE6 copine 6 gene DOID:630 genetic disease ISO RGD:1313396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12010530 CPNE6 copine 6 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1313396 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12010530 CPNE6 copine 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1313396 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12010551 KDM3A lysine demethylase 3A gene DOID:10283 prostate cancer ISO RGD:1346048 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate (human) PMID:22120715|REF_RGD_ID:9586733 12010551 KDM3A lysine demethylase 3A gene DOID:10283 prostate cancer ISO RGD:1346048 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland (human) PMID:20127736|REF_RGD_ID:9587486 12010551 KDM3A lysine demethylase 3A gene DOID:219 colon cancer severity ISO RGD:1346048 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:19858293|REF_RGD_ID:9590225 12010551 KDM3A lysine demethylase 3A gene DOID:3369 Ewing sarcoma ISO RGD:1346048 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow (human) PMID:24362521|REF_RGD_ID:9590218 12010551 KDM3A lysine demethylase 3A gene DOID:4362 cervical cancer severity ISO RGD:1346048 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:23492365|REF_RGD_ID:9590219 12010551 KDM3A lysine demethylase 3A gene DOID:630 genetic disease ISO RGD:1346048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12010551 KDM3A lysine demethylase 3A gene DOID:684 hepatocellular carcinoma ISO RGD:1346048 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:21607773|REF_RGD_ID:9590222 12010551 KDM3A lysine demethylase 3A gene DOID:9002669 Hypoxia ISO RGD:708351 D RGD:9068941 20200609 RGD mRNA:increased expression:multiple (rat) PMID:18538129|REF_RGD_ID:9586363 12010551 KDM3A lysine demethylase 3A gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1346048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 12010551 KDM3A lysine demethylase 3A gene DOID:9261 nasopharynx carcinoma severity ISO RGD:1346048 D RGD:9068941 20200609 RGD protein:decreased expression:nasopharyngeal epithelium (human) PMID:21541331|REF_RGD_ID:9590228 12010551 KDM3A lysine demethylase 3A gene DOID:9970 obesity ISO RGD:737255 D RGD:9068941 20200609 RGD PMID:19875498|REF_RGD_ID:9590220 12010551 KDM3A lysine demethylase 3A gene DOID:9970 obesity ISO RGD:737255 D RGD:9068941 20220825 MouseDO OMIM:601665 12010583 BCHE butyrylcholinesterase gene DOID:0050655 Bamforth-Lazarus syndrome ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16884476 12010583 BCHE butyrylcholinesterase gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:732174 D RGD:9068941 20200609 RGD PMID:20122907|REF_RGD_ID:5687690 12010583 BCHE butyrylcholinesterase gene DOID:0050847 sleep apnea ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18555211 12010583 BCHE butyrylcholinesterase gene DOID:0060041 autism spectrum disorder ISO RGD:732174 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12010583 BCHE butyrylcholinesterase gene DOID:0110636 congenital merosin-deficient muscular dystrophy 1A ISO RGD:732175 D RGD:9068941 20200609 RGD PMID:12383920|REF_RGD_ID:5688132 12010583 BCHE butyrylcholinesterase gene DOID:10113 trypanosomiasis ISO RGD:619996 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:20138875|REF_RGD_ID:5687328 12010583 BCHE butyrylcholinesterase gene DOID:10652 Alzheimer's disease ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23022600 12010583 BCHE butyrylcholinesterase gene DOID:10652 Alzheimer's disease ISO RGD:732174 D RGD:9068941 20200609 RGD PMID:22012848|REF_RGD_ID:5687327 12010583 BCHE butyrylcholinesterase gene DOID:10652 Alzheimer's disease severity ISO RGD:732174 D RGD:9068941 20200609 RGD PMID:16973370|REF_RGD_ID:5688056 12010583 BCHE butyrylcholinesterase gene DOID:10763 hypertension ISO RGD:732174 D RGD:9068941 20200609 RGD PMID:12387587|REF_RGD_ID:1601322 12010583 BCHE butyrylcholinesterase gene DOID:10914 amnestic disorder ISO RGD:619996 D RGD:9068941 20200609 RGD PMID:21771623|REF_RGD_ID:5688134 12010583 BCHE butyrylcholinesterase gene DOID:1168 familial hyperlipidemia ISO RGD:732174 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15219807|REF_RGD_ID:1601321 12010583 BCHE butyrylcholinesterase gene DOID:12858 Huntington's disease ISO RGD:732174 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:2953866|REF_RGD_ID:5688127 12010583 BCHE butyrylcholinesterase gene DOID:1307 dementia ISO RGD:732174 D RGD:9068941 20200609 RGD associated with Parkinson Disease;protein:increased expression:cerebrospinal fluid PMID:2953866|REF_RGD_ID:5688127 12010583 BCHE butyrylcholinesterase gene DOID:13548 secondary Parkinson disease ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30410011 12010583 BCHE butyrylcholinesterase gene DOID:1561 cognitive disorder ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12003252|PMID:20513442 12010583 BCHE butyrylcholinesterase gene DOID:1826 epilepsy ISO RGD:732174 D RGD:9068941 20200609 RGD PMID:7634486|REF_RGD_ID:5688133 12010583 BCHE butyrylcholinesterase gene DOID:2297 leptospirosis ISO RGD:619996 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21921108|REF_RGD_ID:5688128 12010583 BCHE butyrylcholinesterase gene DOID:2377 multiple sclerosis ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20122907 12010583 BCHE butyrylcholinesterase gene DOID:3068 glioblastoma ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2317787 12010583 BCHE butyrylcholinesterase gene DOID:3393 coronary artery disease susceptibility ISO RGD:732174 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A539T (human) PMID:17852836|REF_RGD_ID:2306777 12010583 BCHE butyrylcholinesterase gene DOID:3602 toxic encephalopathy ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21620937 12010583 BCHE butyrylcholinesterase gene DOID:4247 coronary restenosis susceptibility ISO RGD:732174 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A539T (human) PMID:17275003|REF_RGD_ID:2306778 12010583 BCHE butyrylcholinesterase gene DOID:4450 renal cell carcinoma ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18482720 12010583 BCHE butyrylcholinesterase gene DOID:5419 schizophrenia ISO RGD:732174 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22123563|REF_RGD_ID:5687326 12010583 BCHE butyrylcholinesterase gene DOID:543 dystonia ISO RGD:732174 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:2953866|REF_RGD_ID:5688127 12010583 BCHE butyrylcholinesterase gene DOID:630 genetic disease ISO RGD:732174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12010583 BCHE butyrylcholinesterase gene DOID:655 inherited metabolic disorder susceptibility ISO RGD:732174 D RGD:9068941 20200609 RGD butyrylcholinesterase deficiency;DNA:missense mutation: :p.A199V PMID:9694584|REF_RGD_ID:1601328 12010583 BCHE butyrylcholinesterase gene DOID:769 neuroblastoma ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2317787 12010583 BCHE butyrylcholinesterase gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15121994 12010583 BCHE butyrylcholinesterase gene DOID:9000046 Poisoning ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20176007|PMID:20513442|PMID:21620937|PMID:21683774|PMID:29183815 12010583 BCHE butyrylcholinesterase gene DOID:9000441 Butyrylcholinesterase Deficiency ISO RGD:732174 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BCHE, H variant | ClinVar Annotator: match by term: Deficiency of butyrylcholine esterase | ClinVar Annotator: match by term: Postanesthetic apnea | ClinVar Annotator: match by term: Pseudocholinesterase E1 deficiency | ClinVar Annotator: match by term: Pseudocholinesterase deficiency PMID:10190327|PMID:10404729|PMID:10446378|PMID:10699053|PMID:11163024|PMID:11575530|PMID:11733654|PMID:12417112|PMID:12724618|PMID:12881446|PMID:1306123|PMID:13437188|PMID:13479831|PMID:1349196|PMID:13711731|PMID:1415224|PMID:14404182|PMID:15563885|PMID:15731589|PMID:15781196|PMID:1611188|PMID:16434405|PMID:1662391|PMID:16788378|PMID:17166756|PMID:17700357|PMID:18075469|PMID:18165570|PMID:18300943|PMID:18555211|PMID:2013061|PMID:20589221|PMID:20879632|PMID:21029050|PMID:21228368|PMID:21637541|PMID:22053728|PMID:22378569|PMID:2253336|PMID:22750491|PMID:23123771|PMID:24033266|PMID:25054547|PMID:25264279|PMID:25448037|PMID:25525159|PMID:25741868|PMID:27031121|PMID:27109752|PMID:27551784|PMID:28492532|PMID:2915989|PMID:3169798|PMID:31980526|PMID:33024248|PMID:3542989|PMID:416211|PMID:6716425|PMID:7618741|PMID:7634491|PMID:8314794|PMID:8554068|PMID:8601326|PMID:8680411|PMID:9047329|PMID:9058093|PMID:9110359|PMID:9187502|PMID:9191541|PMID:9302273|PMID:9388484|PMID:9543549 12010583 BCHE butyrylcholinesterase gene DOID:9000441 Butyrylcholinesterase Deficiency susceptibility ISO RGD:732174 D RGD:7240710 20230505 OMIM 12010583 BCHE butyrylcholinesterase gene DOID:9000459 Acholinesterasemia ISO RGD:732174 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acholinesterasemia PMID:10190327|PMID:10404729|PMID:10446378|PMID:10699053|PMID:11163024|PMID:11575530|PMID:11733654|PMID:12417112|PMID:12724618|PMID:12881446|PMID:13437188|PMID:13479831|PMID:1349196|PMID:13711731|PMID:1415224|PMID:14404182|PMID:15563885|PMID:15731589|PMID:15781196|PMID:1611188|PMID:16434405|PMID:1662391|PMID:16788378|PMID:17166756|PMID:17700357|PMID:18075469|PMID:18165570|PMID:18300943|PMID:18555211|PMID:2013061|PMID:20589221|PMID:20879632|PMID:21029050|PMID:21228368|PMID:21637541|PMID:22053728|PMID:22378569|PMID:2253336|PMID:22750491|PMID:23123771|PMID:24033266|PMID:25054547|PMID:25264279|PMID:25448037|PMID:25525159|PMID:25741868|PMID:27031121|PMID:27109752|PMID:27551784|PMID:28492532|PMID:2915989|PMID:31980526|PMID:33024248|PMID:3542989|PMID:416211|PMID:6716425|PMID:7618741|PMID:7634491|PMID:8314794|PMID:8554068|PMID:8601326|PMID:8680411|PMID:9047329|PMID:9058093|PMID:9110359|PMID:9187502|PMID:9191541|PMID:9302273|PMID:9388484|PMID:9543549 12010583 BCHE butyrylcholinesterase gene DOID:9000543 Death ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18597747 12010583 BCHE butyrylcholinesterase gene DOID:9000790 Postoperative Complications ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6039104 12010583 BCHE butyrylcholinesterase gene DOID:9001745 Fasciculation ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6465587 12010583 BCHE butyrylcholinesterase gene DOID:9002079 Paresis ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2249680 12010583 BCHE butyrylcholinesterase gene DOID:9002362 Hyperkinesis ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12019200 12010583 BCHE butyrylcholinesterase gene DOID:9002371 Cardiotoxicity ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26145887 12010583 BCHE butyrylcholinesterase gene DOID:9002554 Tachycardia ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18597747 12010583 BCHE butyrylcholinesterase gene DOID:9004802 Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type ISO RGD:732174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Butyrylcholinesterase deficiency, fluoride-resistant, Japanese type PMID:10404729|PMID:12417112|PMID:8680411|PMID:9191541|PMID:9388484 12010583 BCHE butyrylcholinesterase gene DOID:9004992 Apnea ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1058931|PMID:12392308|PMID:12881446|PMID:15826794|PMID:1734774|PMID:21029050|PMID:25054547|PMID:38703|PMID:4319258|PMID:4347326|PMID:4698763|PMID:4728581|PMID:4746059|PMID:4850696|PMID:4959505|PMID:4998912|PMID:5365519|PMID:5412891|PMID:5488351|PMID:5667302|PMID:6039104|PMID:6465587|PMID:6859614|PMID:6928942|PMID:7069741|PMID:726855|PMID:7378868|PMID:7788839|PMID:7793179|PMID:900467|PMID:987736 12010583 BCHE butyrylcholinesterase gene DOID:9005246 Paralysis ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1218179|PMID:122883|PMID:1734774|PMID:21228368|PMID:4319258|PMID:4347326|PMID:4362560|PMID:4728581|PMID:5021954|PMID:910611 12010583 BCHE butyrylcholinesterase gene DOID:9005292 Organophosphate Poisoning ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:22981459|PMID:22982776|PMID:23044488|PMID:23123253|PMID:23178380|PMID:23220586|PMID:26239905|PMID:31201777 12010583 BCHE butyrylcholinesterase gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18292872|PMID:18514640|PMID:20060817|PMID:20971807|PMID:22935511|PMID:22960160|PMID:23000451|PMID:25814464 12010583 BCHE butyrylcholinesterase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619996 D RGD:9068941 20200609 RGD PMID:12379509|PMID:16187484|REF_RGD_ID:1599458|REF_RGD_ID:2306781 12010583 BCHE butyrylcholinesterase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619996 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:11478742|REF_RGD_ID:2306783 12010583 BCHE butyrylcholinesterase gene DOID:9005832 Amyloid Plaques ISO RGD:732175 D RGD:9068941 20200609 RGD PMID:22157615|REF_RGD_ID:5687325 12010583 BCHE butyrylcholinesterase gene DOID:9005930 Endotoxemia ISO RGD:732174 D RGD:9068941 20200609 RGD PMID:17657467|REF_RGD_ID:5688055 12010583 BCHE butyrylcholinesterase gene DOID:9006588 Trismus ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7378868 12010583 BCHE butyrylcholinesterase gene DOID:9006599 Hypertriglyceridemia ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23000450 12010583 BCHE butyrylcholinesterase gene DOID:9006599 Hypertriglyceridemia ISO RGD:732174 D RGD:9068941 20200609 RGD associated with diabetes mellitus PMID:8149699|REF_RGD_ID:1601335 12010583 BCHE butyrylcholinesterase gene DOID:9006646 Metabolic Syndrome ISO RGD:732174 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15907830|REF_RGD_ID:1601317 12010583 BCHE butyrylcholinesterase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3111302 12010583 BCHE butyrylcholinesterase gene DOID:9007096 Stroke ISO RGD:732174 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20464061|REF_RGD_ID:5688131 12010583 BCHE butyrylcholinesterase gene DOID:9007692 Insulin Resistance ISO RGD:732174 D RGD:9068941 20200609 RGD PMID:17917325|REF_RGD_ID:2306776 12010583 BCHE butyrylcholinesterase gene DOID:9008939 Breast Neoplasms ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23063927 12010583 BCHE butyrylcholinesterase gene DOID:9279 hyperhomocysteinemia ISO RGD:619996 D RGD:9068941 20200609 RGD Protein:increased expression:serum PMID:16442260|REF_RGD_ID:1599454 12010583 BCHE butyrylcholinesterase gene DOID:9352 type 2 diabetes mellitus ISO RGD:732174 D RGD:9068941 20200609 RGD PMID:16442234|REF_RGD_ID:2306780 12010583 BCHE butyrylcholinesterase gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:732174 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A539T (human) PMID:11793025|REF_RGD_ID:2306782 12010583 BCHE butyrylcholinesterase gene DOID:9470 bacterial meningitis ISO RGD:732174 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:21303225|REF_RGD_ID:5688130 12010583 BCHE butyrylcholinesterase gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:732174 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A539T (human) PMID:17026497|REF_RGD_ID:2306779 12010583 BCHE butyrylcholinesterase gene DOID:9884 muscular dystrophy ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22906800 12010583 BCHE butyrylcholinesterase gene DOID:9970 obesity ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18452903|PMID:23000450|PMID:23073171|PMID:27163854 12010591 CYP4Z1 cytochrome P450 family 4 subfamily Z member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1354200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 12010591 CYP4Z1 cytochrome P450 family 4 subfamily Z member 1 gene DOID:630 genetic disease ISO RGD:1354200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12010601 FMNL3 formin like 3 gene DOID:630 genetic disease ISO RGD:1606996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12010655 PPP2CB protein phosphatase 2 catalytic subunit beta gene DOID:630 genetic disease ISO RGD:736927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12010668 IGSF3 immunoglobulin superfamily member 3 gene DOID:10485 esophageal atresia ISO RGD:1317196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 12010668 IGSF3 immunoglobulin superfamily member 3 gene DOID:13929 lacrimal duct obstruction ISO RGD:1317196 D RGD:7240710 20180130 OMIM 12010668 IGSF3 immunoglobulin superfamily member 3 gene DOID:13929 lacrimal duct obstruction ISO RGD:1317196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lacrimal duct defect PMID:24372406 12010668 IGSF3 immunoglobulin superfamily member 3 gene DOID:2661 myoepithelioma ISO RGD:1317196 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12010668 IGSF3 immunoglobulin superfamily member 3 gene DOID:630 genetic disease ISO RGD:1317196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12010668 IGSF3 immunoglobulin superfamily member 3 gene DOID:9008473 Lacrimal Puncta Agenesis ISO RGD:1317196 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lacrimal puncta, absence of PMID:24372406 12010676 CSNK1A1 casein kinase 1 alpha 1 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:736167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 12010676 CSNK1A1 casein kinase 1 alpha 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736167 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12010676 CSNK1A1 casein kinase 1 alpha 1 gene DOID:10652 Alzheimer's disease ISO RGD:736167 D RGD:9068941 20200609 RGD protein:increased expression:CA1 field of hippocampus: PMID:10514399|REF_RGD_ID:10395229 12010676 CSNK1A1 casein kinase 1 alpha 1 gene DOID:3429 inclusion body myositis ISO RGD:736167 D RGD:9068941 20200609 RGD protein:increased expression:muscle: PMID:18191026|REF_RGD_ID:10395231 12010676 CSNK1A1 casein kinase 1 alpha 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12010676 CSNK1A1 casein kinase 1 alpha 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736167 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12010676 CSNK1A1 casein kinase 1 alpha 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:736167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 12010702 HS6ST2 heparan sulfate 6-O-sulfotransferase 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12010702 HS6ST2 heparan sulfate 6-O-sulfotransferase 2 gene DOID:0111843 Paganini-Miozzo syndrome ISO RGD:1605906 D RGD:7240710 20190626 OMIM 12010702 HS6ST2 heparan sulfate 6-O-sulfotransferase 2 gene DOID:0111843 Paganini-Miozzo syndrome ISO RGD:1605906 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Paganini-Miozzo syndrome PMID:25741868|PMID:28492532|PMID:30471091 12010702 HS6ST2 heparan sulfate 6-O-sulfotransferase 2 gene DOID:12849 autistic disorder ISO RGD:1605906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12010702 HS6ST2 heparan sulfate 6-O-sulfotransferase 2 gene DOID:630 genetic disease ISO RGD:1605906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12010721 BMPER BMP binding endothelial regulator gene DOID:2559 opiate dependence ISO RGD:1604514 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 12010721 BMPER BMP binding endothelial regulator gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12010721 BMPER BMP binding endothelial regulator gene DOID:630 genetic disease ISO RGD:1604514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12010721 BMPER BMP binding endothelial regulator gene DOID:684 hepatocellular carcinoma ISO RGD:1604514 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12010721 BMPER BMP binding endothelial regulator gene DOID:9000836 Diaphanospondylodysostosis ISO RGD:1604514 D RGD:7240710 20180130 OMIM 12010721 BMPER BMP binding endothelial regulator gene DOID:9000836 Diaphanospondylodysostosis ISO RGD:1604514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diaphanospondylodysostosis PMID:20869035|PMID:21990102|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30006055 12010741 FBXW9 F-box and WD repeat domain containing 9 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1315938 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12010741 FBXW9 F-box and WD repeat domain containing 9 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1315938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12010741 FBXW9 F-box and WD repeat domain containing 9 gene DOID:0111254 glutaric acidemia I ISO RGD:1315938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12010741 FBXW9 F-box and WD repeat domain containing 9 gene DOID:3413 alpha-mannosidosis ISO RGD:1315938 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12010741 FBXW9 F-box and WD repeat domain containing 9 gene DOID:630 genetic disease ISO RGD:1315938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12010763 TACSTD2 tumor associated calcium signal transducer 2 gene DOID:0060449 gelatinous drop-like corneal dystrophy ISO RGD:1342963 D RGD:7240710 20180130 OMIM 12010763 TACSTD2 tumor associated calcium signal transducer 2 gene DOID:0060449 gelatinous drop-like corneal dystrophy ISO RGD:1342963 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lattice corneal dystrophy Type III PMID:10192395|PMID:12107443|PMID:15652848|PMID:17167402|PMID:25741868|PMID:28492532 12010763 TACSTD2 tumor associated calcium signal transducer 2 gene DOID:2566 corneal dystrophy ISO RGD:1342963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal Dystrophy, Dominant/Recessive 12010763 TACSTD2 tumor associated calcium signal transducer 2 gene DOID:289 endometriosis ISO RGD:1342963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12010763 TACSTD2 tumor associated calcium signal transducer 2 gene DOID:630 genetic disease ISO RGD:1342963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12010768 HSP90B1 heat shock protein 90 beta family member 1 gene DOID:0112312 male infertility due to globozoospermia ISO RGD:1321410 D RGD:9068941 20220825 MouseDO 12010768 HSP90B1 heat shock protein 90 beta family member 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1321409 D RGD:9068941 20220812 RGD mRNA:increased expression:lung (human) PMID:23374247|REF_RGD_ID:151708716 12010768 HSP90B1 heat shock protein 90 beta family member 1 gene DOID:630 genetic disease ISO RGD:1321409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12010768 HSP90B1 heat shock protein 90 beta family member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 12010768 HSP90B1 heat shock protein 90 beta family member 1 gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:1321410 D RGD:9068941 20230302 RGD PMID:36044268|REF_RGD_ID:156430337 12010790 EDN3 endothelin 3 gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:1344952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital central hypoventilation PMID:19556619|PMID:24033266|PMID:28492532|PMID:8696331 12010790 EDN3 endothelin 3 gene DOID:0110954 Waardenburg syndrome type 4B ISO RGD:1344952 D RGD:7240710 20230510 OMIM 12010790 EDN3 endothelin 3 gene DOID:0110954 Waardenburg syndrome type 4B ISO RGD:1344952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 4B PMID:11303518|PMID:19556619|PMID:19764030|PMID:20583152|PMID:24033266|PMID:25741868|PMID:28492532|PMID:8630503|PMID:8696331|PMID:9359047|PMID:9587491 12010790 EDN3 endothelin 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1344952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 12010790 EDN3 endothelin 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1344952 D RGD:7240710 20230510 OMIM 12010790 EDN3 endothelin 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1344952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 PMID:10231870|PMID:14633923|PMID:19556619|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28492532|PMID:8696331|PMID:9359047|PMID:9587491 12010790 EDN3 endothelin 3 gene DOID:10763 hypertension ISO RGD:1344952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2059916 12010790 EDN3 endothelin 3 gene DOID:630 genetic disease ISO RGD:1344952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356970 12010790 EDN3 endothelin 3 gene DOID:9000166 Intrinsic Sleep Disorders ISO RGD:1344952 D RGD:9068941 20200609 RGD congenital central hypoventilation syndrome (CCHS), OMIM:209880;DNA:insertion:exon PMID:8696331|REF_RGD_ID:1601002 12010790 EDN3 endothelin 3 gene DOID:9005027 Waardenburg Syndrome Type 4 ISO RGD:1344952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17516928|PMID:8630502|PMID:8630503 12010790 EDN3 endothelin 3 gene DOID:9006024 Hypotension ISO RGD:1344952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1309933|PMID:7982458 12010790 EDN3 endothelin 3 gene DOID:9007001 Bradycardia ISO RGD:1344952 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1309933 12010790 EDN3 endothelin 3 gene DOID:9258 Waardenburg's syndrome ISO RGD:1344952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome 12010821 TRIB3 tribbles pseudokinase 3 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1345491 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 12010821 TRIB3 tribbles pseudokinase 3 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1345491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29289645 12010821 TRIB3 tribbles pseudokinase 3 gene DOID:630 genetic disease ISO RGD:1345491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12010821 TRIB3 tribbles pseudokinase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12010821 TRIB3 tribbles pseudokinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12010821 TRIB3 tribbles pseudokinase 3 gene DOID:9006646 Metabolic Syndrome ISO RGD:1345491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18497449 12010821 TRIB3 tribbles pseudokinase 3 gene DOID:9007692 Insulin Resistance ISO RGD:1345491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20461355 12010833 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1319072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12010833 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1319073 D RGD:9068941 20220825 MouseDO OMIM:601457 12010833 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:0111961 immunodeficiency 26 ISO RGD:1319072 D RGD:7240710 20180130 OMIM 12010833 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:0111961 immunodeficiency 26 ISO RGD:1319072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency PMID:16199547|PMID:17576681|PMID:19075392|PMID:23722905|PMID:25640679|PMID:25741868|PMID:25842288|PMID:26122175|PMID:28492532|PMID:29987844|PMID:30121298|PMID:30778343|PMID:9536098 12010833 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:10907 microcephaly ISO RGD:1319072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12010833 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:13413 hepatic encephalopathy ISO RGD:1319072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224054 12010833 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:1612 breast cancer ISO RGD:1319072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:28492532 12010833 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:1749 squamous cell carcinoma ISO RGD:1319072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25125259 12010833 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:627 severe combined immunodeficiency ISO RGD:12330988 D RGD:9068941 20210604 OMIA Severe combined immunodeficiency disease, autosomal PMID:11489998|PMID:11867233|PMID:12033674|PMID:19635917 12010833 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:627 severe combined immunodeficiency ISO RGD:1308982 D RGD:9068941 20200609 RGD PMID:22981234|REF_RGD_ID:8696027 12010833 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:627 severe combined immunodeficiency ISO RGD:1319073 D RGD:9068941 20200609 RGD PMID:9122213|REF_RGD_ID:1599202 12010833 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:630 genetic disease ISO RGD:1319072 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12010833 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:850 lung disease ISO RGD:1319072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17200189 12010833 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:9000046 Poisoning ISO RGD:1319072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20036648 12010833 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17196815|PMID:25415046 12010833 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:1308982 D RGD:9068941 20220121 RGD PMID:30485360|REF_RGD_ID:39938998 12010833 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:9004707 Massive Hepatic Necrosis ISO RGD:1319072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224054 12010833 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1319072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224054 12010935 NFIB nuclear factor I B gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:733820 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:25741868 12010935 NFIB nuclear factor I B gene DOID:0060041 autism spectrum disorder ISO RGD:733820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12010935 NFIB nuclear factor I B gene DOID:0080202 adenoid cystic carcinoma ISO RGD:733820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12010935 NFIB nuclear factor I B gene DOID:5419 schizophrenia ISO RGD:733820 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12010935 NFIB nuclear factor I B gene DOID:630 genetic disease ISO RGD:733820 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12010935 NFIB nuclear factor I B gene DOID:9002787 MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT ISO RGD:733820 D RGD:7240710 20201216 OMIM 12010935 NFIB nuclear factor I B gene DOID:9002787 MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT ISO RGD:733820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macrocephaly, acquired, with impaired intellectual development PMID:25741868|PMID:28492532|PMID:30388402 12010935 NFIB nuclear factor I B gene DOID:9003816 Macrocephaly ISO RGD:733820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868|PMID:30388402 12010935 NFIB nuclear factor I B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12010935 NFIB nuclear factor I B gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:733820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:30388402 12010964 LINGO4 leucine rich repeat and Ig domain containing 4 gene DOID:0080918 polymicrogyria ISO RGD:1606911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:29706646 12010964 LINGO4 leucine rich repeat and Ig domain containing 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12010964 LINGO4 leucine rich repeat and Ig domain containing 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12010964 LINGO4 leucine rich repeat and Ig domain containing 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606911 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12010964 LINGO4 leucine rich repeat and Ig domain containing 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1606911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12010964 LINGO4 leucine rich repeat and Ig domain containing 4 gene DOID:5812 MHC class II deficiency ISO RGD:1606911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12010964 LINGO4 leucine rich repeat and Ig domain containing 4 gene DOID:630 genetic disease ISO RGD:1606911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12010964 LINGO4 leucine rich repeat and Ig domain containing 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12010970 NKAPL NFKB activating protein like gene DOID:11372 megacolon ISO RGD:1323244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12010970 NKAPL NFKB activating protein like gene DOID:5419 schizophrenia ISO RGD:1323244 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22037552 12010970 NKAPL NFKB activating protein like gene DOID:630 genetic disease ISO RGD:1323244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12010992 TAF6 TATA-box binding protein associated factor 6 gene DOID:0050888 syndromic intellectual disability ISO RGD:1323155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:11295558|PMID:25558065|PMID:25574841|PMID:25741868 12010992 TAF6 TATA-box binding protein associated factor 6 gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1323155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:25574841 12010992 TAF6 TATA-box binding protein associated factor 6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12010992 TAF6 TATA-box binding protein associated factor 6 gene DOID:630 genetic disease ISO RGD:1323155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11295558|PMID:25558065|PMID:25574841|PMID:25741868|PMID:28492532 12010992 TAF6 TATA-box binding protein associated factor 6 gene DOID:9004446 Alazami-Yuan Syndrome ISO RGD:1323155 D RGD:7240710 20190315 OMIM 12010992 TAF6 TATA-box binding protein associated factor 6 gene DOID:9004446 Alazami-Yuan Syndrome ISO RGD:1323155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alazami-Yuan syndrome PMID:11295558|PMID:25558065|PMID:25574841|PMID:25741868|PMID:28492532 12010992 TAF6 TATA-box binding protein associated factor 6 gene DOID:9008086 Developmental Disabilities ISO RGD:1323155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:11295558|PMID:25558065|PMID:25574841|PMID:25741868 12011019 NUDT19 nudix hydrolase 19 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1602031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12011019 NUDT19 nudix hydrolase 19 gene DOID:630 genetic disease ISO RGD:1602031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12011025 DNAH1 dynein axonemal heavy chain 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1343402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:25927852 12011025 DNAH1 dynein axonemal heavy chain 1 gene DOID:0070165 spermatogenic failure 18 ISO RGD:1343402 D RGD:7240710 20190315 OMIM 12011025 DNAH1 dynein axonemal heavy chain 1 gene DOID:0070165 spermatogenic failure 18 ISO RGD:1343402 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 18 PMID:16199547|PMID:17576681|PMID:24033266|PMID:24360805|PMID:25741868|PMID:27573432|PMID:27798045|PMID:28492532|PMID:28577616|PMID:29449551|PMID:30686508|PMID:30811583|PMID:31507630|PMID:31765523|PMID:33968654|PMID:34867808|PMID:9536098 12011025 DNAH1 dynein axonemal heavy chain 1 gene DOID:0070188 spermatogenic failure 1 ISO RGD:1343402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligosynaptic infertility PMID:25741868|PMID:28492532 12011025 DNAH1 dynein axonemal heavy chain 1 gene DOID:0080266 primary ciliary dyskinesia 37 ISO RGD:1343402 D RGD:7240710 20190315 OMIM 12011025 DNAH1 dynein axonemal heavy chain 1 gene DOID:0080266 primary ciliary dyskinesia 37 ISO RGD:1343402 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 37 PMID:16199547|PMID:24033266|PMID:24360805|PMID:25741868|PMID:25927852|PMID:27573432|PMID:27798045|PMID:28492532 12011025 DNAH1 dynein axonemal heavy chain 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1343402 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 12011025 DNAH1 dynein axonemal heavy chain 1 gene DOID:0111915 spermatogenic failure 33 ISO RGD:1343402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic male infertility due to sperm motility disorder PMID:24033266 12011025 DNAH1 dynein axonemal heavy chain 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1343402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868|PMID:28492532 12011025 DNAH1 dynein axonemal heavy chain 1 gene DOID:630 genetic disease ISO RGD:1343402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 12011025 DNAH1 dynein axonemal heavy chain 1 gene DOID:9002089 Tumor Predisposition Syndrome 1 ISO RGD:1343402 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 PMID:21874000|PMID:23684012|PMID:28492532 12011025 DNAH1 dynein axonemal heavy chain 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343402 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:27573432|PMID:27798045|PMID:28492532 12011109 C14H14orf93 chromosome 14 C14orf93 homolog gene DOID:0060439 lysinuric protein intolerance ISO RGD:1348927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12011109 C14H14orf93 chromosome 14 C14orf93 homolog gene DOID:630 genetic disease ISO RGD:1348927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12011109 C14H14orf93 chromosome 14 C14orf93 homolog gene DOID:9000265 Specific Granule Deficiency ISO RGD:1348927 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12011109 C14H14orf93 chromosome 14 C14orf93 homolog gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1348927 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12011138 VPS13A vacuolar protein sorting 13 homolog A gene DOID:0050765 neuroacanthocytosis ISO RGD:1312307 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12011138 VPS13A vacuolar protein sorting 13 homolog A gene DOID:0050766 choreaacanthocytosis ISO RGD:1312307 D RGD:7240710 20180725 OMIM 12011138 VPS13A vacuolar protein sorting 13 homolog A gene DOID:0050766 choreaacanthocytosis ISO RGD:1312307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chorea-acanthocytosis PMID:11381253|PMID:11381254|PMID:12404112|PMID:14663054|PMID:15824261|PMID:15918062|PMID:16199547|PMID:17516458|PMID:17576681|PMID:17998451|PMID:21145924|PMID:21598378|PMID:22777538|PMID:24033266|PMID:24974674|PMID:25733999|PMID:25741868|PMID:26467025|PMID:26870756|PMID:27400454|PMID:28492532|PMID:31192303|PMID:32131761|PMID:9536098 12011138 VPS13A vacuolar protein sorting 13 homolog A gene DOID:0080075 Neu-Laxova syndrome 2 ISO RGD:1312307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neu-Laxova syndrome 2 PMID:17436247|PMID:25152457|PMID:28492532 12011138 VPS13A vacuolar protein sorting 13 homolog A gene DOID:12859 choreatic disease ISO RGD:1312307 D RGD:9068941 20200609 RGD choreoacanthocytosis, OMIM:200150 PMID:11381253|REF_RGD_ID:1599747 12011138 VPS13A vacuolar protein sorting 13 homolog A gene DOID:630 genetic disease ISO RGD:1312307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12011138 VPS13A vacuolar protein sorting 13 homolog A gene DOID:8725 vascular dementia ISO RGD:1312307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 12011138 VPS13A vacuolar protein sorting 13 homolog A gene DOID:9006534 Nervous System Malformations ISO RGD:1312307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12011223 TMEM134 transmembrane protein 134 gene DOID:1059 intellectual disability ISO RGD:1604784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12011223 TMEM134 transmembrane protein 134 gene DOID:630 genetic disease ISO RGD:1604784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12011223 TMEM134 transmembrane protein 134 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1604784 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12011223 TMEM134 transmembrane protein 134 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1604784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12011254 RNF43 ring finger protein 43 gene DOID:0050777 Joubert syndrome ISO RGD:1342772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12011254 RNF43 ring finger protein 43 gene DOID:0050869 villous adenoma ISO RGD:1342772 D RGD:9068941 20220303 RGD DNA:nonsense mutation:CDS:p.R113X (human) PMID:24512911|REF_RGD_ID:11552863 12011254 RNF43 ring finger protein 43 gene DOID:0070271 Lynch syndrome 1 ISO RGD:1342772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868 12011254 RNF43 ring finger protein 43 gene DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 ISO RGD:1342772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 PMID:25741868|PMID:28492532 12011254 RNF43 ring finger protein 43 gene DOID:0111096 Fanconi anemia complementation group O ISO RGD:1342772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group O PMID:28492532 12011254 RNF43 ring finger protein 43 gene DOID:10534 stomach cancer ISO RGD:69092 D RGD:9068941 20220311 RGD PMID:27006499|REF_RGD_ID:11354809 12011254 RNF43 ring finger protein 43 gene DOID:10534 stomach cancer disease_progression ISO RGD:1342772 D RGD:9068941 20220303 RGD mRNA:altered expression:stomach (human) PMID:27514024|REF_RGD_ID:151361220 12011254 RNF43 ring finger protein 43 gene DOID:1059 intellectual disability ISO RGD:1342772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12011254 RNF43 ring finger protein 43 gene DOID:1380 endometrial cancer ISO RGD:1342772 D RGD:9068941 20220303 RGD DNA:mutations:multiple: (human) PMID:25344691|REF_RGD_ID:151361224 12011254 RNF43 ring finger protein 43 gene DOID:218 ascending colon cancer exacerbates ISO RGD:1342772 D RGD:9068941 20220303 RGD DNA:nonsense mutation, frameshift mutations:CDS:multiple (human) PMID:32236609|REF_RGD_ID:151361217 12011254 RNF43 ring finger protein 43 gene DOID:219 colon cancer disease_progression ISO RGD:1342772 D RGD:9068941 20220224 RGD mRNA:increased expression:colon (human) PMID:26350900|REF_RGD_ID:11053240 12011254 RNF43 ring finger protein 43 gene DOID:3070 high grade glioma exacerbates ISO RGD:1342772 D RGD:9068941 20220224 RGD protein:decreased expression:brain, brainstem (human) PMID:25755738|REF_RGD_ID:151361124 12011254 RNF43 ring finger protein 43 gene DOID:3717 gastric adenocarcinoma severity ISO RGD:1342772 D RGD:9068941 20220303 RGD human cells in a mouse model PMID:30380024|REF_RGD_ID:151361216 12011254 RNF43 ring finger protein 43 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1342772 D RGD:9068941 20220303 RGD human cells in a mouse model PMID:31286874|REF_RGD_ID:151361222 12011254 RNF43 ring finger protein 43 gene DOID:4029 gastritis exacerbates ISO RGD:1332400 D RGD:9068941 20220224 RGD associated with Helicobacter Infections; DNA:missense mutations:CDS:p.H292R, p.H295R (mouse) PMID:30884828|REF_RGD_ID:151361146 12011254 RNF43 ring finger protein 43 gene DOID:4928 intrahepatic cholangiocarcinoma exacerbates ISO RGD:1342772 D RGD:9068941 20220224 RGD mRNA, protein:decreased expression:liver, bile duct epithelium (human) PMID:26980022|REF_RGD_ID:151361125 12011254 RNF43 ring finger protein 43 gene DOID:4947 cholangiocarcinoma ISO RGD:1342772 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 12011254 RNF43 ring finger protein 43 gene DOID:4947 cholangiocarcinoma exacerbates ISO RGD:1342772 D RGD:9068941 20220303 RGD associated with opisthorchiasis;DNA:SNPs:multiple: (human) PMID:22561520|REF_RGD_ID:151361227 12011254 RNF43 ring finger protein 43 gene DOID:5517 stomach carcinoma ISO RGD:1342772 D RGD:9068941 20220311 RGD DNA:mutations:multiple: (human) PMID:24816253|REF_RGD_ID:151665118 12011254 RNF43 ring finger protein 43 gene DOID:5517 stomach carcinoma exacerbates ISO RGD:1342772 D RGD:9068941 20220303 RGD protein:decreased expression:stomach (human) PMID:26184844|REF_RGD_ID:11086719 12011254 RNF43 ring finger protein 43 gene DOID:630 genetic disease ISO RGD:1342772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12011254 RNF43 ring finger protein 43 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1342772 D RGD:9068941 20220303 RGD human cells in a mouse model PMID:23136185|REF_RGD_ID:151361219 12011254 RNF43 ring finger protein 43 gene DOID:9000027 Microsatellite Instability ISO RGD:1342772 D RGD:9068941 20220303 RGD associated with ascending colon cancer;DNA:nonsense mutation, frameshift mutations:CDS:multiple (human) PMID:32236609|REF_RGD_ID:151361217 12011254 RNF43 ring finger protein 43 gene DOID:9000027 Microsatellite Instability ISO RGD:1342772 D RGD:9068941 20220303 RGD associated with colorectal cancer, endometrial cancer;DNA:mutations:multiple (human) PMID:25344691|REF_RGD_ID:151361224 12011254 RNF43 ring finger protein 43 gene DOID:9000027 Microsatellite Instability ISO RGD:1342772 D RGD:9068941 20220303 RGD associated with colorectal cancer, stomach cancer;protein:decreased expression:cytoplasm (human) PMID:26297255|REF_RGD_ID:11056888 12011254 RNF43 ring finger protein 43 gene DOID:9000217 Stomach Neoplasms ISO RGD:1342772 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24816253 12011254 RNF43 ring finger protein 43 gene DOID:9001231 Sessile Serrated Polyposis Cancer Syndrome ISO RGD:1342772 D RGD:7240710 20190315 OMIM 12011254 RNF43 ring finger protein 43 gene DOID:9001231 Sessile Serrated Polyposis Cancer Syndrome ISO RGD:1342772 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sessile serrated polyposis cancer syndrome PMID:22552244|PMID:24512911|PMID:25741868|PMID:26350900|PMID:27081527|PMID:28492532|PMID:29330307 12011254 RNF43 ring finger protein 43 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1342772 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12011254 RNF43 ring finger protein 43 gene DOID:9003155 Parasitic Liver Diseases ISO RGD:1342772 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 12011254 RNF43 ring finger protein 43 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1342772 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12011254 RNF43 ring finger protein 43 gene DOID:9006618 Liver Metastasis ISO RGD:1342772 D RGD:9068941 20220303 RGD associated with colorectal adenocarcinoma;mRNA:increased expression:liver (human) PMID:28789449|REF_RGD_ID:151361221 12011254 RNF43 ring finger protein 43 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1342772 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25344691 12011254 RNF43 ring finger protein 43 gene DOID:9008330 Serrated Polyposis ISO RGD:1342772 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colon serrated polyposis PMID:22552244|PMID:27081527 12011254 RNF43 ring finger protein 43 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1342772 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25344691 12011254 RNF43 ring finger protein 43 gene DOID:9256 colorectal cancer ISO RGD:1332400 D RGD:9068941 20220303 RGD protein:decreased expression:colorectum (mouse) PMID:29021137|REF_RGD_ID:151361223 12011254 RNF43 ring finger protein 43 gene DOID:9256 colorectal cancer ISO RGD:1342772 D RGD:9068941 20220303 RGD DNA:mutations:multiple: (human) PMID:25344691|REF_RGD_ID:151361224 12011254 RNF43 ring finger protein 43 gene DOID:9256 colorectal cancer ISO RGD:735645 D RGD:9068941 20220303 RGD mRNA, protein:decreased expression:colorectum (human) PMID:27661107|REF_RGD_ID:151361218 12011254 RNF43 ring finger protein 43 gene DOID:9256 colorectal cancer ameliorates ISO RGD:1342772 D RGD:9068941 20220224 RGD DNA:silent mutation, missense mutation:exon 3:p.R117R, p.R117H (rs2257205) (human) PMID:31140864|REF_RGD_ID:151361145 12011254 RNF43 ring finger protein 43 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1342772 D RGD:9068941 20220303 RGD DNA:mutations:multiple (human) PMID:29756208|REF_RGD_ID:151361209 12011254 RNF43 ring finger protein 43 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1342772 D RGD:9068941 20220303 RGD DNA:mutations:multiple: (human) PMID:33230914|REF_RGD_ID:151361228 12011254 RNF43 ring finger protein 43 gene DOID:9256 colorectal cancer onset ISO RGD:1342772 D RGD:9068941 20220311 RGD associated with Neoplasm Metastasis;DNA:mutations:multiple (human) PMID:33194656|REF_RGD_ID:151356979 12011254 RNF43 ring finger protein 43 gene DOID:9256 colorectal cancer treatment ISO RGD:1342772 D RGD:9068941 20220311 RGD PMID:22202234|PMID:22977472|PMID:23267878|PMID:29473265|REF_RGD_ID:151665113|REF_RGD_ID:151665114|REF_RGD_ID:151665115|REF_RGD_ID:151665116 12011254 RNF43 ring finger protein 43 gene DOID:9778 irritable bowel syndrome exacerbates ISO RGD:1342772 D RGD:9068941 20220303 RGD associated with Colitis-Associated Neoplasms;DNA:mutations:multiple: (human) PMID:29416670|REF_RGD_ID:151361225 12011284 HDHD5 haloacid dehalogenase like hydrolase domain containing 5 gene DOID:0111996 immunodeficiency 51 ISO RGD:1315242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12011284 HDHD5 haloacid dehalogenase like hydrolase domain containing 5 gene DOID:630 genetic disease ISO RGD:1315242 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12011284 HDHD5 haloacid dehalogenase like hydrolase domain containing 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12011284 HDHD5 haloacid dehalogenase like hydrolase domain containing 5 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1315242 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12011296 IL22RA2 interleukin 22 receptor subunit alpha 2 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1322028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 12011296 IL22RA2 interleukin 22 receptor subunit alpha 2 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1322028 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12011296 IL22RA2 interleukin 22 receptor subunit alpha 2 gene DOID:0111955 immunodeficiency 27A ISO RGD:1322028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 12011296 IL22RA2 interleukin 22 receptor subunit alpha 2 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1322028 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 12011296 IL22RA2 interleukin 22 receptor subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1322028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12011296 IL22RA2 interleukin 22 receptor subunit alpha 2 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1322028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection PMID:26642243|PMID:28492532|PMID:29572183|PMID:8960473|PMID:9806040 12011311 CHCHD7 coiled-coil-helix-coiled-coil-helix domain containing 7 gene DOID:630 genetic disease ISO RGD:1347837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12011335 SMURF1 SMAD specific E3 ubiquitin protein ligase 1 gene DOID:0060001 withdrawal disorder ISO RGD:1603623 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 12011335 SMURF1 SMAD specific E3 ubiquitin protein ligase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12011335 SMURF1 SMAD specific E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1603623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12011335 SMURF1 SMAD specific E3 ubiquitin protein ligase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1594738 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:23595775|REF_RGD_ID:10412063 12011335 SMURF1 SMAD specific E3 ubiquitin protein ligase 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1603623 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 12011359 IFT22 intraflagellar transport 22 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12011359 IFT22 intraflagellar transport 22 gene DOID:630 genetic disease ISO RGD:1313356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12011426 FXYD7 FXYD domain containing ion transport regulator 7 gene DOID:0110222 Brugada syndrome 5 ISO RGD:732780 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12011426 FXYD7 FXYD domain containing ion transport regulator 7 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:732780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12011426 FXYD7 FXYD domain containing ion transport regulator 7 gene DOID:543 dystonia ISO RGD:732780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12011426 FXYD7 FXYD domain containing ion transport regulator 7 gene DOID:630 genetic disease ISO RGD:732780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12011446 ZNF521 zinc finger protein 521 gene DOID:1059 intellectual disability ISO RGD:1316488 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12011446 ZNF521 zinc finger protein 521 gene DOID:1324 lung cancer ISO RGD:1316488 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 12011446 ZNF521 zinc finger protein 521 gene DOID:5419 schizophrenia ISO RGD:1316489 D RGD:9068941 20220825 MouseDO OMIM:181500 12011446 ZNF521 zinc finger protein 521 gene DOID:630 genetic disease ISO RGD:1316488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12011464 RPL37 ribosomal protein L37 gene DOID:630 genetic disease ISO RGD:731374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12011464 RPL37 ribosomal protein L37 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12011472 SLC39A14 solute carrier family 39 member 14 gene DOID:0060496 respiratory allergy ISO RGD:1315975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085522 12011472 SLC39A14 solute carrier family 39 member 14 gene DOID:0060900 Parkinson's disease 14 ISO RGD:1315975 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:36152728 12011472 SLC39A14 solute carrier family 39 member 14 gene DOID:0080537 hypermanganesemia with dystonia 2 ISO RGD:1315975 D RGD:7240710 20190315 OMIM 12011472 SLC39A14 solute carrier family 39 member 14 gene DOID:0080537 hypermanganesemia with dystonia 2 ISO RGD:1315975 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypermanganesemia with dystonia 2 PMID:25741868|PMID:27431290|PMID:28492532|PMID:28541650|PMID:29498153|PMID:29685658|PMID:30232769|PMID:32626807 12011472 SLC39A14 solute carrier family 39 member 14 gene DOID:630 genetic disease ISO RGD:1315975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29498153 12011472 SLC39A14 solute carrier family 39 member 14 gene DOID:9000304 Manganese Poisoning ISO RGD:1315975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28860195 12011472 SLC39A14 solute carrier family 39 member 14 gene DOID:9000831 Hypokinesia ISO RGD:1315975 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:36152728 12011472 SLC39A14 solute carrier family 39 member 14 gene DOID:9005053 Hyperostosis Cranialis Interna ISO RGD:1315975 D RGD:7240710 20200624 OMIM 12011472 SLC39A14 solute carrier family 39 member 14 gene DOID:9005053 Hyperostosis Cranialis Interna ISO RGD:1315975 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hyperostosis cranialis interna PMID:2300107|PMID:25741868|PMID:28492532|PMID:29621230 12011472 SLC39A14 solute carrier family 39 member 14 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1315975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 12011495 DMAC2L distal membrane arm assembly component 2 like gene DOID:0050574 L-2-hydroxyglutaric aciduria ISO RGD:1343474 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria PMID:17576681|PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 12011495 DMAC2L distal membrane arm assembly component 2 like gene DOID:630 genetic disease ISO RGD:1343474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:26467025|PMID:28492532|PMID:9536098 12011517 SERPINE2 serpin family E member 2 gene DOID:10652 Alzheimer's disease ISO RGD:70076 D RGD:9068941 20200609 RGD PMID:2813392|REF_RGD_ID:2317937 12011517 SERPINE2 serpin family E member 2 gene DOID:10763 hypertension ISO RGD:3748 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:blood vessel PMID:12524238|REF_RGD_ID:729767 12011517 SERPINE2 serpin family E member 2 gene DOID:4724 brain edema ISO RGD:3748 D RGD:9068941 20200609 RGD associated with Cerebral Hemorrhage PMID:18442833|REF_RGD_ID:2317927 12011517 SERPINE2 serpin family E member 2 gene DOID:630 genetic disease ISO RGD:70076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12011517 SERPINE2 serpin family E member 2 gene DOID:9004009 Reperfusion Injury ISO RGD:3748 D RGD:9068941 20200609 RGD PMID:8261109|REF_RGD_ID:2317936 12011517 SERPINE2 serpin family E member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:70076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12011532 TRDN triadin gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:735791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:21520333|PMID:22406018|PMID:22422768|PMID:22909776|PMID:23035052|PMID:24033266|PMID:25326635|PMID:25640679|PMID:25650408|PMID:25741868|PMID:25922419|PMID:26200674|PMID:26768964|PMID:28492532|PMID:30649896|PMID:31437535|PMID:9536098 12011532 TRDN triadin gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:735791 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:21520333|PMID:22406018|PMID:22422768|PMID:23035052|PMID:24025405|PMID:24033266|PMID:25326635|PMID:25650408|PMID:25741868|PMID:25922419|PMID:26200674|PMID:26768964|PMID:27538377|PMID:28341588|PMID:28492532|PMID:30649896|PMID:30847666|PMID:31589614|PMID:31847883|PMID:31980526|PMID:32746448|PMID:33432171|PMID:33895855|PMID:9536098 12011532 TRDN triadin gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:735791 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:16199547|PMID:17576681|PMID:21520333|PMID:22422768|PMID:23035052|PMID:24025405|PMID:24033266|PMID:25326635|PMID:25640679|PMID:25650408|PMID:25741868|PMID:25922419|PMID:26200674|PMID:26768964|PMID:27538377|PMID:28341588|PMID:28492532|PMID:30649896|PMID:30847666|PMID:31437535|PMID:31589614|PMID:31847883|PMID:31980526|PMID:32746448|PMID:33432171|PMID:33895855|PMID:9536098 12011532 TRDN triadin gene DOID:0060679 catecholaminergic polymorphic ventricular tachycardia 5 ISO RGD:735791 D RGD:7240710 20180130 OMIM 12011532 TRDN triadin gene DOID:0060679 catecholaminergic polymorphic ventricular tachycardia 5 ISO RGD:735791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIAC ARRHYTHMIA SYNDROME, WITH OR WITHOUT SKELETAL MUSCLE WEAKNESS | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 5 PMID:16199547|PMID:17576681|PMID:22422768|PMID:24025405|PMID:24033266|PMID:25326635|PMID:25741868|PMID:25922419|PMID:26200674|PMID:26768964|PMID:27538377|PMID:28341588|PMID:28492532|PMID:30847666|PMID:31437535|PMID:31589614|PMID:31847883|PMID:31980526|PMID:32746448|PMID:33432171|PMID:9536098 12011532 TRDN triadin gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:735791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25650408|PMID:25741868|PMID:28492532 12011532 TRDN triadin gene DOID:12930 dilated cardiomyopathy ISO RGD:735791 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:17400717|REF_RGD_ID:7327229 12011532 TRDN triadin gene DOID:1826 epilepsy ISO RGD:735791 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12011532 TRDN triadin gene DOID:630 genetic disease ISO RGD:735791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12011532 TRDN triadin gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:735791 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia PMID:28492532 12011532 TRDN triadin gene DOID:9775 diastolic heart failure ISO RGD:735791 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12011577 ADRB2 adrenoceptor beta 2 gene DOID:0014667 disease of metabolism susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD dyslipidemias;DNA:polymorphism: :p.Q27E PMID:16082424|REF_RGD_ID:1601124 12011577 ADRB2 adrenoceptor beta 2 gene DOID:0050700 cardiomyopathy ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25193472 12011577 ADRB2 adrenoceptor beta 2 gene DOID:0060041 autism spectrum disorder ISO RGD:733595 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12011577 ADRB2 adrenoceptor beta 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733595 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12011577 ADRB2 adrenoceptor beta 2 gene DOID:1067 open-angle glaucoma severity ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymprphism:cds:p.Q27E(human) PMID:16785856|REF_RGD_ID:8548468 12011577 ADRB2 adrenoceptor beta 2 gene DOID:1070 primary open angle glaucoma onset ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymprphism:cds:p.R16G(human) PMID:16785856|REF_RGD_ID:8548468 12011577 ADRB2 adrenoceptor beta 2 gene DOID:10763 hypertension ISO RGD:2060 D RGD:9068941 20200609 RGD PMID:2471888|REF_RGD_ID:7175287 12011577 ADRB2 adrenoceptor beta 2 gene DOID:10763 hypertension ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms: :46A>G, 79C>G (human) PMID:20739939|REF_RGD_ID:4144883 12011577 ADRB2 adrenoceptor beta 2 gene DOID:10763 hypertension ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms: :pG16R, p.Q27E, p.T164I (human) PMID:16041242|REF_RGD_ID:1578728 12011577 ADRB2 adrenoceptor beta 2 gene DOID:10763 hypertension ISO RGD:733595 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic; DNA:SNP:cds:p.R16G (human) PMID:20484896|REF_RGD_ID:7175066 12011577 ADRB2 adrenoceptor beta 2 gene DOID:10763 hypertension no_association ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.R16G, p.Q27E PMID:17221209|REF_RGD_ID:1601119 12011577 ADRB2 adrenoceptor beta 2 gene DOID:10763 hypertension susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:16685203|REF_RGD_ID:1601123 12011577 ADRB2 adrenoceptor beta 2 gene DOID:11396 pulmonary edema ISO RGD:2060 D RGD:9068941 20200609 RGD PMID:18987456|REF_RGD_ID:5129128 12011577 ADRB2 adrenoceptor beta 2 gene DOID:11396 pulmonary edema ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:SNPs: :46A>G, 79C>G and 523C>A (human) PMID:20546540|REF_RGD_ID:4144884 12011577 ADRB2 adrenoceptor beta 2 gene DOID:11446 sciatic neuropathy treatment ISO RGD:10109 D RGD:9068941 20200609 RGD PMID:19912227|REF_RGD_ID:8548489 12011577 ADRB2 adrenoceptor beta 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:2060 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:ovary PMID:15795180|REF_RGD_ID:5508374 12011577 ADRB2 adrenoceptor beta 2 gene DOID:1168 familial hyperlipidemia ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16027735 12011577 ADRB2 adrenoceptor beta 2 gene DOID:12361 Graves' disease susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotype:79C>G,47A>G,-367T>C(human) PMID:17143563|REF_RGD_ID:8548467 12011577 ADRB2 adrenoceptor beta 2 gene DOID:12849 autistic disorder ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199132 12011577 ADRB2 adrenoceptor beta 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:2060 D RGD:9068941 20200609 RGD PMID:18287209|REF_RGD_ID:5129132 12011577 ADRB2 adrenoceptor beta 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11986409 12011577 ADRB2 adrenoceptor beta 2 gene DOID:13949 interstitial cystitis susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R16G (human) PMID:12442007|REF_RGD_ID:7175285 12011577 ADRB2 adrenoceptor beta 2 gene DOID:14115 toxic shock syndrome disease_progression ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs1042717(human) PMID:19850944|REF_RGD_ID:8548487 12011577 ADRB2 adrenoceptor beta 2 gene DOID:14115 toxic shock syndrome treatment ISO RGD:733595 D RGD:9068941 20200609 RGD PMID:16076286|REF_RGD_ID:8548529 12011577 ADRB2 adrenoceptor beta 2 gene DOID:1459 hypothyroidism ISO RGD:2060 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:brown adipose tissue, heart: PMID:1651697|REF_RGD_ID:8548533 12011577 ADRB2 adrenoceptor beta 2 gene DOID:1485 cystic fibrosis ISO RGD:733595 D RGD:9068941 20200609 RGD PMID:20203292|REF_RGD_ID:5129107 12011577 ADRB2 adrenoceptor beta 2 gene DOID:1485 cystic fibrosis ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:17502834|REF_RGD_ID:4145099 12011577 ADRB2 adrenoceptor beta 2 gene DOID:1555 urticaria susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphism: :46A>G(human) PMID:18159608|REF_RGD_ID:8548486 12011577 ADRB2 adrenoceptor beta 2 gene DOID:2723 dermatitis susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.Q27E(human) PMID:16955193|REF_RGD_ID:8548494 12011577 ADRB2 adrenoceptor beta 2 gene DOID:2841 asthma ISO RGD:733595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-2-adrenoreceptor agonist, reduced response to PMID:15284533|PMID:16596417|PMID:8383511 12011577 ADRB2 adrenoceptor beta 2 gene DOID:2841 asthma susceptibility ISO RGD:733595 D RGD:9068941 20230506 RGD DNA:SNP: :-1023A>G (human) PMID:19638684|REF_RGD_ID:4145081 12011577 ADRB2 adrenoceptor beta 2 gene DOID:2942 bronchiolitis ISO RGD:733595 D RGD:9068941 20200609 RGD PMID:17687719|REF_RGD_ID:4145098 12011577 ADRB2 adrenoceptor beta 2 gene DOID:3021 acute kidney failure ISO RGD:2060 D RGD:9068941 20200609 RGD associated with Endotoxemia; PMID:19020966|REF_RGD_ID:7175283 12011577 ADRB2 adrenoceptor beta 2 gene DOID:3021 acute kidney failure ISO RGD:2060 D RGD:9068941 20200609 RGD associated with endotoxemia; protein:increased expression:kidney PMID:14747378|REF_RGD_ID:7175276 12011577 ADRB2 adrenoceptor beta 2 gene DOID:3021 acute kidney failure ISO RGD:733595 D RGD:9068941 20200609 RGD associated with endotoxemia; protein:increased expression:kidney PMID:14747378|REF_RGD_ID:7175276 12011577 ADRB2 adrenoceptor beta 2 gene DOID:3021 acute kidney failure treatment ISO RGD:733595 D RGD:9068941 20200609 RGD associated with Bacteremia; PMID:19887504|REF_RGD_ID:7175281 12011577 ADRB2 adrenoceptor beta 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:733595 D RGD:9068941 20200609 RGD PMID:11527135|PMID:20211002|REF_RGD_ID:4144899|REF_RGD_ID:5129114 12011577 ADRB2 adrenoceptor beta 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:SNP: :p.R16G (human) PMID:18789663|REF_RGD_ID:4145093 12011577 ADRB2 adrenoceptor beta 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1042717, rs1042718 (human) PMID:20525719|REF_RGD_ID:4140935 12011577 ADRB2 adrenoceptor beta 2 gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:733595 D RGD:9068941 20200609 RGD protein:decreased expression:blood, sputum, mononuclear cell PMID:19080468|REF_RGD_ID:4145086 12011577 ADRB2 adrenoceptor beta 2 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.Q27E (human) PMID:19293197|REF_RGD_ID:4145082 12011577 ADRB2 adrenoceptor beta 2 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:SNP: :p.R16G (human) PMID:19747908|REF_RGD_ID:4145080 12011577 ADRB2 adrenoceptor beta 2 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:SNPs: :p.R16G, p.Q27E (human) PMID:18667995|REF_RGD_ID:4145095 12011577 ADRB2 adrenoceptor beta 2 gene DOID:437 myasthenia gravis ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.R16G,Q27E(human) PMID:10606977|REF_RGD_ID:8548470 12011577 ADRB2 adrenoceptor beta 2 gene DOID:4500 hypokalemia ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17292646|PMID:1848636|PMID:2826064 12011577 ADRB2 adrenoceptor beta 2 gene DOID:4947 cholangiocarcinoma ISO RGD:733595 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:16292515|REF_RGD_ID:2325640 12011577 ADRB2 adrenoceptor beta 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27400929 12011577 ADRB2 adrenoceptor beta 2 gene DOID:552 pneumonia ISO RGD:2060 D RGD:9068941 20200609 RGD PMID:19925785|REF_RGD_ID:4145041 12011577 ADRB2 adrenoceptor beta 2 gene DOID:557 kidney disease ISO RGD:2060 D RGD:9068941 20200609 RGD Associated with Escherichia coli infection; PMID:20349426|REF_RGD_ID:7175274 12011577 ADRB2 adrenoceptor beta 2 gene DOID:5844 myocardial infarction ISO RGD:2060 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:12400771|REF_RGD_ID:8548519 12011577 ADRB2 adrenoceptor beta 2 gene DOID:5844 myocardial infarction susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.G16R, p.Q27E, p.T164I PMID:15520258|REF_RGD_ID:1601126 12011577 ADRB2 adrenoceptor beta 2 gene DOID:6000 congestive heart failure ISO RGD:733595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-2-adrenoreceptor agonist, reduced response to PMID:15284533|PMID:16596417|PMID:8383511 12011577 ADRB2 adrenoceptor beta 2 gene DOID:630 genetic disease ISO RGD:733595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12011577 ADRB2 adrenoceptor beta 2 gene DOID:646 viral encephalitis ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27400929 12011577 ADRB2 adrenoceptor beta 2 gene DOID:783 end stage renal disease ISO RGD:733595 D RGD:9068941 20200609 RGD PMID:9730702|REF_RGD_ID:7175286 12011577 ADRB2 adrenoceptor beta 2 gene DOID:820 myocarditis ISO RGD:2060 D RGD:9068941 20200609 RGD PMID:16908771|REF_RGD_ID:5129151 12011577 ADRB2 adrenoceptor beta 2 gene DOID:850 lung disease ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11436944 12011577 ADRB2 adrenoceptor beta 2 gene DOID:8577 ulcerative colitis ISO RGD:2060 D RGD:9068941 20200609 RGD protein:decreased expression:large intestine mucosa,spleen PMID:22772914|REF_RGD_ID:7175063 12011577 ADRB2 adrenoceptor beta 2 gene DOID:863 nervous system disease ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 12011577 ADRB2 adrenoceptor beta 2 gene DOID:8893 psoriasis ISO RGD:733595 D RGD:9068941 20200609 RGD mRNA:decreased expression:epidermis: PMID:8763426|REF_RGD_ID:8548488 12011577 ADRB2 adrenoceptor beta 2 gene DOID:8893 psoriasis susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R16G(human) PMID:15265530|REF_RGD_ID:8548492 12011577 ADRB2 adrenoceptor beta 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17003101 12011577 ADRB2 adrenoceptor beta 2 gene DOID:9000483 Angina Pectoris ISO RGD:733595 D RGD:9068941 20200609 RGD PMID:11527135|REF_RGD_ID:5129114 12011577 ADRB2 adrenoceptor beta 2 gene DOID:9000495 Tremor ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:190674|PMID:7902979|PMID:8102213|PMID:9151294 12011577 ADRB2 adrenoceptor beta 2 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.Q27E PMID:12682000|REF_RGD_ID:1601128 12011577 ADRB2 adrenoceptor beta 2 gene DOID:9000784 Fibrosis ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25193472 12011577 ADRB2 adrenoceptor beta 2 gene DOID:9001472 Nasal Polyps susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphism:p.R16G(human) PMID:17621827|REF_RGD_ID:8548469 12011577 ADRB2 adrenoceptor beta 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2060 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:19785950|REF_RGD_ID:5129118 12011577 ADRB2 adrenoceptor beta 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25193472 12011577 ADRB2 adrenoceptor beta 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18454446 12011577 ADRB2 adrenoceptor beta 2 gene DOID:9003637 Vestibulocochlear Nerve Injuries ISO RGD:2060 D RGD:9068941 20200609 RGD mRNA:increased expression:Vestibulocochlear nerve: PMID:22178544|REF_RGD_ID:8548530 12011577 ADRB2 adrenoceptor beta 2 gene DOID:9004009 Reperfusion Injury ISO RGD:2060 D RGD:9068941 20200609 RGD PMID:14630341|PMID:18336819|REF_RGD_ID:1598754|REF_RGD_ID:4145097 12011577 ADRB2 adrenoceptor beta 2 gene DOID:9004086 AIDS Dementia Complex ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27400929 12011577 ADRB2 adrenoceptor beta 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12011577 ADRB2 adrenoceptor beta 2 gene DOID:9004484 Sepsis ISO RGD:2060 D RGD:9068941 20200609 RGD PMID:16603198|REF_RGD_ID:1598745 12011577 ADRB2 adrenoceptor beta 2 gene DOID:9004484 Sepsis ISO RGD:2060 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver: PMID:10409266|REF_RGD_ID:8548498 12011577 ADRB2 adrenoceptor beta 2 gene DOID:9004616 Left Ventricular Hypertrophy susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD associated with hypertension;DNA:polymorphism: :p.Q27E PMID:17178264|REF_RGD_ID:1601120 12011577 ADRB2 adrenoceptor beta 2 gene DOID:9004760 Paroxysmal Dyspnea ISO RGD:733595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma, nocturnal, susceptibility to PMID:11739457|PMID:14557466|PMID:15500895|PMID:15867853|PMID:16596417|PMID:28492532|PMID:7706471|PMID:9399946|PMID:9399966|PMID:9522789 12011577 ADRB2 adrenoceptor beta 2 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.Q27E PMID:17020471|REF_RGD_ID:1601121 12011577 ADRB2 adrenoceptor beta 2 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.R16G, p.Q27E PMID:14557466|REF_RGD_ID:1601127 12011577 ADRB2 adrenoceptor beta 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733595 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12011577 ADRB2 adrenoceptor beta 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9554809 12011577 ADRB2 adrenoceptor beta 2 gene DOID:9007692 Insulin Resistance ISO RGD:2060 D RGD:9068941 20200609 RGD PMID:11510954|REF_RGD_ID:1598757 12011577 ADRB2 adrenoceptor beta 2 gene DOID:9007692 Insulin Resistance ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19034036 12011577 ADRB2 adrenoceptor beta 2 gene DOID:9007692 Insulin Resistance ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.R16G PMID:15699455|REF_RGD_ID:1601125 12011577 ADRB2 adrenoceptor beta 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2060 D RGD:9068941 20200609 RGD PMID:16269402|REF_RGD_ID:1598746 12011577 ADRB2 adrenoceptor beta 2 gene DOID:9008691 Liver Injury ISO RGD:2060 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:8855951|REF_RGD_ID:8548508 12011577 ADRB2 adrenoceptor beta 2 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.R16G, p.Q27E PMID:17221209|REF_RGD_ID:1601119 12011577 ADRB2 adrenoceptor beta 2 gene DOID:9452 fatty liver disease ISO RGD:733595 D RGD:9068941 20200609 RGD PMID:11718682|REF_RGD_ID:1559320 12011577 ADRB2 adrenoceptor beta 2 gene DOID:9970 obesity ISO RGD:10106|RGD:10110 D RGD:9068941 20230506 RGD PMID:12161655|REF_RGD_ID:737773 12011577 ADRB2 adrenoceptor beta 2 gene DOID:9970 obesity ISO RGD:733595 D RGD:9068941 20230506 CTD CTD Direct Evidence: marker/mechanism PMID:15687340 12011577 ADRB2 adrenoceptor beta 2 gene DOID:9970 obesity no_association ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.R16G, p.Q27E PMID:17221209|REF_RGD_ID:1601119 12011577 ADRB2 adrenoceptor beta 2 gene DOID:9970 obesity susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.R16G, p.Q27E PMID:17027833|REF_RGD_ID:1601122 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:0060180 colitis treatment ISO RGD:734432 D RGD:9068941 20210312 RGD PMID:30142311|REF_RGD_ID:42724458 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25294219 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:23592516|REF_RGD_ID:10412712 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:25385666|REF_RGD_ID:21201312 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:0081292 traumatic brain injury ISO RGD:620360 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:30855558|REF_RGD_ID:26884463 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:734431 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:10247 pleurisy ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:14673141|REF_RGD_ID:6893408 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:10652 Alzheimer's disease ISO RGD:734432 D RGD:9068941 20200609 RGD protein:increased expression:brain, nucleus PMID:23771816|REF_RGD_ID:10412683 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:10652 Alzheimer's disease onset ISO RGD:734431 D RGD:9068941 20200609 RGD DNA:snps, haplotype:5' utr, intron:multiple (human) PMID:20064547|REF_RGD_ID:6893326 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:10652 Alzheimer's disease treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:22913737|REF_RGD_ID:10412685 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:10652 Alzheimer's disease treatment ISO RGD:734431 D RGD:9068941 20200609 RGD PMID:19805328|REF_RGD_ID:10412689 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:10763 hypertension ISO RGD:734431 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32165127 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:10763 hypertension treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:23775684|REF_RGD_ID:10412717 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:10923 sickle cell anemia ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29255069 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:11832 visual epilepsy ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:24333359|REF_RGD_ID:10412723 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:11832 visual epilepsy treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:24333359|REF_RGD_ID:10412723 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:12236 primary biliary cholangitis ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:12306 vitiligo ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28836394 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:12858 Huntington's disease ISO RGD:620360 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum PMID:24008671|REF_RGD_ID:10412688 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:1324 lung cancer ISO RGD:734431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung cancer 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:13580 cholestasis ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20977460 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:13619 extrahepatic cholestasis ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:13619 extrahepatic cholestasis treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:31900718|REF_RGD_ID:21201303 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:161 keratosis ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20404090 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:1749 squamous cell carcinoma ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:2671 transitional cell carcinoma ISO RGD:734431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:26619011|PMID:29018201 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:2841 asthma severity ISO RGD:734431 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchoalveolar lavage cell, peripheral blood mononuclear cell (human) PMID:21514635|REF_RGD_ID:6893376 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:3021 acute kidney failure ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24958931 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:3021 acute kidney failure treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:24291173|REF_RGD_ID:10412697 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:3042 allergic contact dermatitis ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23564646 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:620360 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:22737924|REF_RGD_ID:10412732 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:734431 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:18556627|REF_RGD_ID:5134980 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:734431 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:primary motor cortex, spinal cord (human) PMID:18957896|REF_RGD_ID:6893397 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:734431 D RGD:9068941 20210604 CTD CTD Direct Evidence: therapeutic PMID:27012417 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:22056419|REF_RGD_ID:10412690 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:23880501|PMID:24466583|REF_RGD_ID:10412696|REF_RGD_ID:10412714 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21489257 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:3602 toxic encephalopathy ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20211941 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:363 uterine cancer ISO RGD:734431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:26619011 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:19138753|REF_RGD_ID:6893396 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23570914 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:734431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:26619011|PMID:29018201 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:734431 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:22684020|PMID:26482881|PMID:33148531 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:3910 lung adenocarcinoma ISO RGD:734431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:26619011|PMID:29018201 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:399 tuberculosis treatment ISO RGD:734431 D RGD:9068941 20210305 RGD DNA:SNPs,haplotype: :rs4243387,rs2001350,rs6726395(human) PMID:31586142|REF_RGD_ID:42722614 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:4195 hyperglycemia ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20086057 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:4448 macular degeneration ISO RGD:734431 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:intron:28312647A>G (rs6726395) (human) PMID:23276910|REF_RGD_ID:7771558 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:4448 macular degeneration ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:21559389|REF_RGD_ID:10412682 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:4450 renal cell carcinoma ISO RGD:734431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:26619011 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:5082 liver cirrhosis ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23793039 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:5082 liver cirrhosis treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:22732220|REF_RGD_ID:10412731 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26247513 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:734431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:26619011|PMID:29018201 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:557 kidney disease ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20605904 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:5844 myocardial infarction ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:24915518|REF_RGD_ID:10412738 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:5844 myocardial infarction treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:23290949|REF_RGD_ID:10412734 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:6000 congestive heart failure ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:29373037|REF_RGD_ID:26923905 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:6000 congestive heart failure ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28373008 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:630 genetic disease ISO RGD:734431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:734431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:26619011|PMID:29018201 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:77 gastrointestinal system disease ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20404090 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:784 chronic kidney disease treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:23174956|REF_RGD_ID:10412711 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:83 cataract disease_progression ISO RGD:734431 D RGD:9068941 20200609 RGD DNA:snps, haplotype:5' utr, intron:multiple (human) PMID:20064547|REF_RGD_ID:6893326 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:850 lung disease ISO RGD:734432 D RGD:9068941 20200609 RGD acute lung injury associated with brain injuries PMID:19176347|REF_RGD_ID:5134977 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:8704 genital herpes ameliorates ISO RGD:734432 D RGD:9068941 20210305 RGD PMID:31555293|REF_RGD_ID:42722615 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:8947 diabetic retinopathy ISO RGD:620360 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased activity:retina PMID:23633659|REF_RGD_ID:10412733 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:24747453|REF_RGD_ID:10412730 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9000099 Experimental Colitis treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:22350949|REF_RGD_ID:10412739 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9000352 Vascular System Injuries ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19234301 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:22304528|REF_RGD_ID:10412722 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9000918 Disease Progression ISO RGD:734431 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32621833 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:734431 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32682831 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9000998 Brain Injuries ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:25089700|REF_RGD_ID:11576302 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9000998 Brain Injuries ISO RGD:620360 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:18787991|REF_RGD_ID:5134971 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9001285 Alcoholic Liver Diseases severity ISO RGD:734431 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs35652124(human) PMID:31340446|REF_RGD_ID:21201311 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:31906014|REF_RGD_ID:21201307 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23341968 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9001614 Chronic Tubulointerstitial Nephropathy ISO RGD:620360 D RGD:9068941 20200609 RGD protein:decreased localization:nucleus PMID:23512109|REF_RGD_ID:10412728 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29353218 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9001916 Fetal Death ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29255069 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:22288937|PMID:31952110|REF_RGD_ID:10403073|REF_RGD_ID:21201304 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:21439372|REF_RGD_ID:6893386 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20103708 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:620360 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23064900|REF_RGD_ID:10412718 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9002221 Hyperplasia ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19234301 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:620360 D RGD:9068941 20200609 RGD protein:decreased expression:placenta PMID:25171874|REF_RGD_ID:26884462 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:734431 D RGD:9068941 20200609 RGD protein:decreased expression:placenta PMID:25171874|REF_RGD_ID:26884462 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:23910525|REF_RGD_ID:10412716 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20124447|PMID:23441843 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9002644 Premature Aging treatment ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:19443193|REF_RGD_ID:10412691 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9002720 Splenomegaly ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29255069 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19910389 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9002802 Acidoses ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29618784 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9002884 Emphysema ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20133372 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:734431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:26619011|PMID:29018201 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9003386 Sunburn ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:18200051|REF_RGD_ID:6893371 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9004203 Chromosome Breakage ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27774770 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9004250 Hepatic Insufficiency ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9004464 Skin Neoplasms ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:734431 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32682831 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9004610 Acute Lung Injury ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24812154 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9004634 Cardiac Output, Low ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30096613 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:22072621|REF_RGD_ID:10412719 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9005369 Hepatomegaly ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9005369 Hepatomegaly ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:32105670|REF_RGD_ID:21201282 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620360 D RGD:9068941 20200609 RGD protein:increased localization:blood, mononuclear cell, nucleus PMID:23331247|REF_RGD_ID:7244270 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:22869588|REF_RGD_ID:10412694 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:24740568|REF_RGD_ID:10412720 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9005749 Necrosis ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24813929 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9005930 Endotoxemia treatment ISO RGD:620360 D RGD:9068941 20210305 RGD PMID:26646455|REF_RGD_ID:42722616 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9006205 Animal Disease Models ISO RGD:734431 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:27012417|PMID:29255069 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:620360 D RGD:9068941 20230128 RGD PMID:31089916|REF_RGD_ID:155882543 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27774770 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20605904 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:734432 D RGD:9068941 20230302 RGD PMID:36044268|REF_RGD_ID:156430337 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:620360 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23453443|REF_RGD_ID:10412713 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:734432 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23353773|REF_RGD_ID:10412721 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:734431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:26619011 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29353218 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9007188 Liver Neoplasms ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20722399 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22491424|PMID:22627062|PMID:24813929|PMID:26958860|PMID:30215777 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:18417483|REF_RGD_ID:6893370 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:29091898|PMID:31972209|PMID:32066295|REF_RGD_ID:15090820|REF_RGD_ID:21201280|REF_RGD_ID:21201283 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:620360 D RGD:9068941 20200609 RGD induced by methotrexate (CHEBI:44185), treated by ferulic acid (CHEBI:17620) PMID:31889292|REF_RGD_ID:21201308 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:29091898|PMID:31927046|REF_RGD_ID:15090820|REF_RGD_ID:21201305 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:734431 D RGD:9068941 20220407 CTD CTD Direct Evidence: therapeutic PMID:35124418 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9007692 Insulin Resistance ISO RGD:734431 D RGD:9068941 20200609 RGD associated with obesity; protein:decreased expression:hepatocyte: PMID:32102936|REF_RGD_ID:21201281 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9007702 Carcinogenesis ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29228771 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20530669 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:24915518|REF_RGD_ID:10412738 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:734431 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32621833 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9009072 IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA ISO RGD:734431 D RGD:7240710 20190315 OMIM 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9009072 IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA ISO RGD:734431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency, developmental delay, and hypohomocysteinemia PMID:24130096|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29018201|PMID:31107239 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9146 visceral leishmaniasis treatment ISO RGD:734431 D RGD:9068941 20210312 RGD PMID:23729024|REF_RGD_ID:42724459 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9256 colorectal cancer ISO RGD:734431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:29018201 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9256 colorectal cancer treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:22859375|REF_RGD_ID:10412740 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:23954466|REF_RGD_ID:10412692 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9452 fatty liver disease ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28555106 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9452 fatty liver disease ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:22367278|REF_RGD_ID:6893372 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9675 pulmonary emphysema ISO RGD:734431 D RGD:9068941 20200609 RGD protein:decreased expression:lung: PMID:18559366|REF_RGD_ID:5134973 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9970 obesity ISO RGD:734431 D RGD:9068941 20200609 RGD protein:decreased expression:hepatocyte: PMID:32102936|REF_RGD_ID:21201281 12011582 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9970 obesity ISO RGD:734432 D RGD:9068941 20200609 RGD protein:decreased expression:liver macrophage: PMID:32102936|REF_RGD_ID:21201281 12011594 SDHAF4 succinate dehydrogenase complex assembly factor 4 gene DOID:630 genetic disease ISO RGD:1319485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12011601 SYT11 synaptotagmin 11 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1343002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12011601 SYT11 synaptotagmin 11 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1343002 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532|PMID:30684668|PMID:31463572 12011601 SYT11 synaptotagmin 11 gene DOID:0111940 immunodeficiency 42 ISO RGD:1343002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12011601 SYT11 synaptotagmin 11 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1343002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12011601 SYT11 synaptotagmin 11 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1343002 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12011601 SYT11 synaptotagmin 11 gene DOID:1540 parathyroid carcinoma ISO RGD:1343002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12011601 SYT11 synaptotagmin 11 gene DOID:5812 MHC class II deficiency ISO RGD:1343002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12011601 SYT11 synaptotagmin 11 gene DOID:630 genetic disease ISO RGD:1343002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12011601 SYT11 synaptotagmin 11 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12011611 SLC5A12 solute carrier family 5 member 12 gene DOID:1059 intellectual disability ISO RGD:1345162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12011611 SLC5A12 solute carrier family 5 member 12 gene DOID:630 genetic disease ISO RGD:1345162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12011634 MMAA metabolism of cobalamin associated A gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1312825 D RGD:7240710 20180130 OMIM 12011634 MMAA metabolism of cobalamin associated A gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1312825 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:12438653|PMID:15308131|PMID:15523652|PMID:15781192|PMID:16199547|PMID:16247646|PMID:17576681|PMID:17728257|PMID:17957493|PMID:20549364|PMID:21048060|PMID:21114891|PMID:21545677|PMID:22614770|PMID:22661206|PMID:23026888|PMID:23711287|PMID:23716945|PMID:24033266|PMID:24059531|PMID:24095221|PMID:25525159|PMID:25636100|PMID:25741868|PMID:25748407|PMID:25959030|PMID:26270765|PMID:26370686|PMID:27591164|PMID:27858373|PMID:28492532|PMID:28497574|PMID:29996803|PMID:31497484|PMID:31622506|PMID:32034731|PMID:32754920|PMID:33029243|PMID:33726816|PMID:35618652|PMID:9536098 12011634 MMAA metabolism of cobalamin associated A gene DOID:14749 methylmalonic acidemia ISO RGD:1312825 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:12438653|PMID:15308131|PMID:15523652|PMID:15781192|PMID:16247646|PMID:17728257|PMID:17957493|PMID:20549364|PMID:21048060|PMID:21114891|PMID:21545677|PMID:22614770|PMID:22661206|PMID:23026888|PMID:23711287|PMID:24033266|PMID:24059531|PMID:24095221|PMID:25525159|PMID:25636100|PMID:25741868|PMID:25748407|PMID:25959030|PMID:26270765|PMID:26370686|PMID:27591164|PMID:28492532|PMID:28497574|PMID:32754920|PMID:33029243|PMID:33726816|PMID:35618652 12011634 MMAA metabolism of cobalamin associated A gene DOID:630 genetic disease ISO RGD:1312825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12011634 MMAA metabolism of cobalamin associated A gene DOID:83 cataract ISO RGD:1312825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract PMID:25741868|PMID:28492532 12011634 MMAA metabolism of cobalamin associated A gene DOID:9005835 Congenital Abnormalities ISO RGD:1312825 D RGD:9068941 20200609 RGD methylmalonic aciduria, OMIM:251100 PMID:15523652|REF_RGD_ID:1600803 12011662 NHLH2 nescient helix-loop-helix 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 12011662 NHLH2 nescient helix-loop-helix 2 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1317985 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868|PMID:35066646 12011662 NHLH2 nescient helix-loop-helix 2 gene DOID:1921 Klinefelter syndrome ISO RGD:1317985 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868|PMID:35066646 12011662 NHLH2 nescient helix-loop-helix 2 gene DOID:630 genetic disease ISO RGD:1317985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12011662 NHLH2 nescient helix-loop-helix 2 gene DOID:9006791 Hypogonadotropic Hypogonadism 27 without Anosmia ISO RGD:1317985 D RGD:7240710 20220223 OMIM 12011662 NHLH2 nescient helix-loop-helix 2 gene DOID:9006791 Hypogonadotropic Hypogonadism 27 without Anosmia ISO RGD:1317985 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 27 without anosmia PMID:25741868|PMID:35066646 12011662 NHLH2 nescient helix-loop-helix 2 gene DOID:9970 obesity ISO RGD:1317985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20808804 12011701 MSS51 MSS51 mitochondrial translational activator gene DOID:630 genetic disease ISO RGD:1319740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12011712 ILK integrin linked kinase gene DOID:0050700 cardiomyopathy ISO RGD:732855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 12011712 ILK integrin linked kinase gene DOID:0060118 thoracic disease ISO RGD:732855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23045294 12011712 ILK integrin linked kinase gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:732855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11402068|PMID:11694518|PMID:14745274|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28492532|PMID:29915097|PMID:30206291|PMID:31983221|PMID:33874732|PMID:34935411|PMID:9536098 12011712 ILK integrin linked kinase gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:24033266|PMID:28492532 12011712 ILK integrin linked kinase gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732855 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28492532 12011712 ILK integrin linked kinase gene DOID:10283 prostate cancer disease_progression ISO RGD:732855 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:lower in high versus low Gleason score tumors (p<0.05 compared to at least one housekeeping gene) PMID:18336616|REF_RGD_ID:2301729 12011712 ILK integrin linked kinase gene DOID:10283 prostate cancer disease_progression ISO RGD:732855 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:significantly lower in benign prostatic hyperplasia then any prostate cancer (p<0.01), gradient of expression from BPH to poorly differentiated C+D stage neoplasms PMID:15704679|REF_RGD_ID:2301731 12011712 ILK integrin linked kinase gene DOID:12930 dilated cardiomyopathy ISO RGD:732855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant 12011712 ILK integrin linked kinase gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:732855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12011712 ILK integrin linked kinase gene DOID:1790 malignant mesothelioma ISO RGD:732855 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23045294 12011712 ILK integrin linked kinase gene DOID:1793 pancreatic cancer ISO RGD:732855 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:18772397|REF_RGD_ID:5490966 12011712 ILK integrin linked kinase gene DOID:1826 epilepsy ISO RGD:732855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20064661 12011712 ILK integrin linked kinase gene DOID:224 transient cerebral ischemia ISO RGD:732855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15472100 12011712 ILK integrin linked kinase gene DOID:2394 ovarian cancer severity ISO RGD:732855 D RGD:9068941 20200609 RGD protein:increased expression:ovary, surface of epithelium (human) PMID:14517840|REF_RGD_ID:13441558 12011712 ILK integrin linked kinase gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:732855 D RGD:9068941 20200609 RGD protein:increased expression:tumor: high-grade tumors versus adjacent BHP (P<0.001), BHP from cancer-free patients (P<0.002), or low-grade tumors (P=0.003), also associated with proliferative index (P=0.001), but inversely related to 5-year survival (p=0.004) PMID:11448915|REF_RGD_ID:2301734 12011712 ILK integrin linked kinase gene DOID:2843 long QT syndrome ISO RGD:732855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12011712 ILK integrin linked kinase gene DOID:630 genetic disease ISO RGD:732855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532|PMID:34935411 12011712 ILK integrin linked kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16941698 12011712 ILK integrin linked kinase gene DOID:9004271 Colonic Polyps ISO RGD:732855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11593435 12011712 ILK integrin linked kinase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732855 D RGD:9068941 20200609 RGD late onset development of tumors in transgenic mice overexpressing human ILK in mammary glands PMID:11704830|REF_RGD_ID:2301733 12011712 ILK integrin linked kinase gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18702665|PMID:19629758 12011740 MYBPHL myosin binding protein H like gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1606910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12011740 MYBPHL myosin binding protein H like gene DOID:12849 autistic disorder ISO RGD:1606910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12011740 MYBPHL myosin binding protein H like gene DOID:2843 long QT syndrome ISO RGD:1606910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12011740 MYBPHL myosin binding protein H like gene DOID:630 genetic disease ISO RGD:1606910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12011740 MYBPHL myosin binding protein H like gene DOID:9008386 Hydrops Fetalis ISO RGD:1606910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 12011778 SOD1 superoxide dismutase 1 gene DOID:0050700 cardiomyopathy ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:15890620|REF_RGD_ID:1581220 12011778 SOD1 superoxide dismutase 1 gene DOID:0050879 fragile X-associated tremor/ataxia syndrome ISO RGD:11329 D RGD:9068941 20200609 RGD mRNA:increased expression:prefrontal cortex, brain stem (mouse) PMID:24418349|REF_RGD_ID:8655858 12011778 SOD1 superoxide dismutase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:730855 D RGD:7240710 20180130 OMIM 12011778 SOD1 superoxide dismutase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:730855 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 1, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:10321246|PMID:10400992|PMID:10430435|PMID:10439968|PMID:10540008|PMID:10593307|PMID:10624810|PMID:10732812|PMID:10735277|PMID:10809943|PMID:10889018|PMID:11220750|PMID:11284995|PMID:11304046|PMID:11369193|PMID:11464950|PMID:11467054|PMID:11676987|PMID:11854285|PMID:11997070|PMID:12039658|PMID:12165567|PMID:12215228|PMID:12358759|PMID:12402272|PMID:12442272|PMID:12482932|PMID:1248932|PMID:1259395|PMID:12729761|PMID:12732844|PMID:12783432|PMID:12792143|PMID:12963370|PMID:13129804|PMID:13804989|PMID:14506936|PMID:14517684|PMID:14623191|PMID:1463506|PMID:14658402|PMID:14755739|PMID:14875225|PMID:14970233|PMID:15050437|PMID:15056757|PMID:15069187|PMID:15208263|PMID:15258228|PMID:15465081|PMID:15579468|PMID:15634772|PMID:15952898|PMID:15987780|PMID:16020530|PMID:16035108|PMID:16038516|PMID:16291929|PMID:16423367|PMID:16476815|PMID:16674979|PMID:16793335|PMID:16945901|PMID:16963403|PMID:17146286|PMID:17255946|PMID:17257622|PMID:17319283|PMID:17333220|PMID:17394531|PMID:17420412|PMID:17483589|PMID:17486090|PMID:17513298|PMID:17543992|PMID:17888947|PMID:18055113|PMID:18273717|PMID:18301754|PMID:18319614|PMID:18428003|PMID:18504130|PMID:18608106|PMID:18666828|PMID:18669821|PMID:18703498|PMID:18951903|PMID:19063897|PMID:19074999|PMID:19165329|PMID:19176896|PMID:19259395|PMID:19332692|PMID:19344917|PMID:19363716|PMID:19483195|PMID:19488901|PMID:19618436|PMID:19635794|PMID:19703565|PMID:19800308|PMID:19815002|PMID:19847927|PMID:19922144|PMID:19922148|PMID:19965850|PMID:20075587|PMID:20079423|PMID:20184515|PMID:20184521|PMID:20184893|PMID:20189984|PMID:20309572|PMID:20399791|PMID:20404329|PMID:20404910|PMID:20460594|PMID:20472325|PMID:20540686|PMID:20562451|PMID:20577002|PMID:21073275|PMID:21120636|PMID:21226712|PMID:21257910|PMID:21329474|PMID:21506602|PMID:21549128|PMID:21549454|PMID:21574856|PMID:21603025|PMID:21651514|PMID:21700707|PMID:21700728|PMID:21755517|PMID:21901496|PMID:22094223|PMID:22244934|PMID:22264771|PMID:22292843|PMID:22332887|PMID:22475618|PMID:22499346|PMID:22595972|PMID:22632445|PMID:22647583|PMID:22941224|PMID:22985433|PMID:23062701|PMID:23100398|PMID:23264618|PMID:23280792|PMID:23286750|PMID:23291526|PMID:23447461|PMID:23541756|PMID:23726301|PMID:23744890|PMID:23773010|PMID:23792044|PMID:23837654|PMID:23869403|PMID:23872456|PMID:23873540|PMID:23949607|PMID:23962495|PMID:24094577|PMID:24134191|PMID:24312616|PMID:24325798|PMID:24369116|PMID:24439480|PMID:24472010|PMID:24908169|PMID:24971881|PMID:25025039|PMID:25052939|PMID:25109764|PMID:2517465|PMID:25174650|PMID:25178511|PMID:25299611|PMID:25382069|PMID:25509359|PMID:25572957|PMID:25578810|PMID:25585530|PMID:25600987|PMID:25623562|PMID:25681989|PMID:25741868|PMID:25792239|PMID:25806427|PMID:26069299|PMID:26362407|PMID:26467025|PMID:26551617|PMID:26601740|PMID:26622980|PMID:26733601|PMID:26742954|PMID:26791423|PMID:26843957|PMID:27154192|PMID:27257061|PMID:27261500|PMID:27348463|PMID:27470954|PMID:27604643|PMID:27884173|PMID:27974499|PMID:27978769|PMID:28089114|PMID:28105640|PMID:28222900|PMID:28291249|PMID:28430856|PMID:28492532|PMID:28620717|PMID:28709720|PMID:29149916|PMID:29411640|PMID:29564924|PMID:29650794|PMID:29861044|PMID:29895397|PMID:30626575|PMID:30637102|PMID:31134679|PMID:31170830|PMID:31781168|PMID:31788332|PMID:32166880|PMID:32579787|PMID:32619288|PMID:32672072|PMID:32951934|PMID:32987860|PMID:33479441|PMID:34721532|PMID:7496169|PMID:7501156|PMID:7635196|PMID:7643359|PMID:7647793|PMID:7655469|PMID:7655471|PMID:7673954|PMID:7755363|PMID:7836951|PMID:7881433|PMID:7887412|PMID:7891072|PMID:7911198|PMID:7951249|PMID:7951252|PMID:7985500|PMID:7997024|PMID:8004110|PMID:8058797|PMID:8069312|PMID:8105280|PMID:8179602|PMID:8298637|PMID:8351519|PMID:8446170|PMID:8528216|PMID:8560268|PMID:8572658|PMID:8650157|PMID:8682505|PMID:8813280|PMID:8830861|PMID:8875253|PMID:8891072|PMID:8900247|PMID:8907321|PMID:8909456|PMID:8938700|PMID:8971099|PMID:8990014|PMID:9008494|PMID:9029070|PMID:9052802|PMID:9065559|PMID:9101297|PMID:9228005|PMID:9365366|PMID:9409355 12011778 SOD1 superoxide dismutase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:730855 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 1, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:9455977|PMID:9556377|PMID:9743498|PMID:9817920|PMID:9857958 12011778 SOD1 superoxide dismutase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:730855 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 1, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:10321246|PMID:10400992|PMID:10430435|PMID:10439968|PMID:10540008|PMID:10593307|PMID:10624810|PMID:10732812|PMID:10735277|PMID:10809943|PMID:10889018|PMID:11220750|PMID:11284995|PMID:11304046|PMID:11346368|PMID:11369193|PMID:11408340|PMID:11464950|PMID:11467054|PMID:11602336|PMID:11676987|PMID:11854285|PMID:11951178|PMID:11997070|PMID:12039658|PMID:12165567|PMID:12210393|PMID:12215228|PMID:12358759|PMID:12402272|PMID:12424972|PMID:12442272|PMID:12482932|PMID:1248932|PMID:1259395|PMID:12729761|PMID:12732844|PMID:12783432|PMID:12792143|PMID:12963370|PMID:13129803|PMID:13129804|PMID:13804989|PMID:14506936|PMID:14517684|PMID:14623191|PMID:1463506|PMID:14658402|PMID:14755739|PMID:14759637|PMID:14875225|PMID:14970233|PMID:15050437|PMID:15056757|PMID:15069187|PMID:15208263|PMID:15235802|PMID:15258228|PMID:15465081|PMID:15579468|PMID:15634772|PMID:15952898|PMID:15987780|PMID:16020530|PMID:16035108|PMID:16038516|PMID:16291929|PMID:16423367|PMID:16435343|PMID:16476815|PMID:16674979|PMID:16793335|PMID:16945901|PMID:16952453|PMID:16963403|PMID:17146286|PMID:17237124|PMID:17255946|PMID:17257622|PMID:17319283|PMID:17333220|PMID:17394531|PMID:17420412|PMID:17453632|PMID:17483589|PMID:17486090|PMID:17513298|PMID:17543992|PMID:17576681|PMID:17888947|PMID:18055113|PMID:18273717|PMID:18301754|PMID:18319614|PMID:18428003|PMID:18504130|PMID:18608106|PMID:18666828|PMID:18669821|PMID:18703498|PMID:18852346|PMID:18951903|PMID:19000626|PMID:19063897|PMID:19074999|PMID:19091752|PMID:19165329|PMID:19176896|PMID:19196430|PMID:19259395|PMID:19332692|PMID:19344917|PMID:19363716|PMID:19483195|PMID:19488901|PMID:19618436|PMID:19635794|PMID:19703565|PMID:19800308|PMID:19815002|PMID:19847927|PMID:19922144|PMID:19922148|PMID:19965850|PMID:20075587|PMID:20079423|PMID:20184515|PMID:20184521|PMID:20184893|PMID:20189984|PMID:20309572|PMID:20385392|PMID:20399791|PMID:20404329|PMID:20404910|PMID:20460594|PMID:20472325|PMID:20515040|PMID:20540686|PMID:20562451|PMID:20577002|PMID:21073275|PMID:21120636|PMID:21226712|PMID:21257910|PMID:21329474|PMID:21506602|PMID:21549128|PMID:21549454|PMID:21574856|PMID:21603025|PMID:21651514|PMID:21700707|PMID:21700728|PMID:21755517|PMID:21901496|PMID:22049684|PMID:22094223|PMID:22244934|PMID:22264771|PMID:22292843|PMID:22332887|PMID:22475618|PMID:22499346|PMID:22595972|PMID:22632444|PMID:22632445|PMID:22647583|PMID:22670878|PMID:22722621|PMID:22941224|PMID:22985433|PMID:23062701|PMID:23100398|PMID:23118898|PMID:23182243|PMID:23264618|PMID:23280792|PMID:23286750|PMID:23291526|PMID:23447461|PMID:23512985|PMID:23541756|PMID:23726301|PMID:23744890|PMID:23773010|PMID:23792044|PMID:23837654|PMID:23853506|PMID:23869403|PMID:23872456|PMID:23873540|PMID:23898858|PMID:23949607|PMID:23962495|PMID:24094577|PMID:24134191|PMID:24312616|PMID:24325798|PMID:24369116|PMID:24439480|PMID:24472010|PMID:24769475|PMID:24908169|PMID:24971881|PMID:25025039|PMID:25052939|PMID:25109764|PMID:2517465|PMID:25174650|PMID:25178511|PMID:25299611|PMID:25382069|PMID:25509359|PMID:25572957|PMID:25578810|PMID:25585530|PMID:25600987|PMID:25623562|PMID:25681989|PMID:25741868|PMID:25792239|PMID:25806427|PMID:26069299|PMID:26084641|PMID:26362407|PMID:26467025|PMID:26551617|PMID:26601740|PMID:26622980|PMID:26733601|PMID:26742954|PMID:26791423|PMID:26843957|PMID:27090969|PMID:27154192|PMID:27257061|PMID:27261500|PMID:27348463|PMID:27470954|PMID:27604643|PMID:27884173|PMID:27974499|PMID:27978769|PMID:28035186|PMID:28089114|PMID:28105640|PMID:28222900|PMID:28291249|PMID:28430856|PMID:28492532|PMID:28620717|PMID:28709720|PMID:29149916|PMID:29411640|PMID:29540513|PMID:29564924|PMID:29650794|PMID:29861044|PMID:29895397|PMID:29982983|PMID:30029678|PMID:30626575|PMID:30637102|PMID:30887850|PMID:31086828|PMID:31134679|PMID:31170830|PMID:31781168|PMID:31788332|PMID:32166880|PMID:32174179|PMID:32397312|PMID:32579787|PMID:32672072|PMID:32729724|PMID:32729725|PMID:32948071|PMID:32951934|PMID:32987860|PMID:33381076|PMID:33479441|PMID:33618928|PMID:33785574|PMID:34721532|PMID:7496169 12011778 SOD1 superoxide dismutase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:730855 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 1, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:7501156|PMID:7635196|PMID:7643359|PMID:7647793|PMID:7655469|PMID:7655471|PMID:7673954|PMID:7755363|PMID:7836951|PMID:7870076|PMID:7881433|PMID:7887412|PMID:7891072|PMID:7911198|PMID:7951249|PMID:7951252|PMID:7985500|PMID:7997024|PMID:8004110|PMID:8058797|PMID:8069312|PMID:8105280|PMID:8179602|PMID:8298637|PMID:8351519|PMID:8446170|PMID:8528216|PMID:8560268|PMID:8572658|PMID:8650157|PMID:8682505|PMID:8813280|PMID:8830861|PMID:8875253|PMID:8900247|PMID:8907321|PMID:8909456|PMID:8938700|PMID:8971099|PMID:8990014|PMID:9008494|PMID:9029070|PMID:9052802|PMID:9065559|PMID:9101297|PMID:9131652|PMID:9228005|PMID:9365366|PMID:9409355|PMID:9455977|PMID:9462467|PMID:9506558|PMID:9536098|PMID:9556377|PMID:9706719|PMID:9743498|PMID:9817920|PMID:9857958 12011778 SOD1 superoxide dismutase 1 gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:730855 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 PMID:11464950|PMID:11467054|PMID:12729761|PMID:12732844|PMID:12963370|PMID:14506936|PMID:14658402|PMID:15634772|PMID:17319283|PMID:19483195|PMID:20079423|PMID:20184515|PMID:21257910|PMID:21506602|PMID:21700707|PMID:21901496|PMID:22292843|PMID:22332887|PMID:22647583|PMID:23280792|PMID:23291526|PMID:23447461|PMID:23837654|PMID:24369116|PMID:24472010|PMID:25578810|PMID:25741868|PMID:26362407|PMID:26467025|PMID:26742954|PMID:26791423|PMID:28105640|PMID:28291249|PMID:28492532|PMID:7891072|PMID:8351519|PMID:8446170|PMID:9008494|PMID:9029070 12011778 SOD1 superoxide dismutase 1 gene DOID:0060224 atrial fibrillation ISO RGD:730855 D RGD:9068941 20200609 RGD associated with Mitral Valve Insufficiency;mRNA, protein:increased expression:posterior wall of left atrium (human) PMID:21954878|REF_RGD_ID:8655869 12011778 SOD1 superoxide dismutase 1 gene DOID:0060319 cardiac arrest ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:15843790|REF_RGD_ID:1581221 12011778 SOD1 superoxide dismutase 1 gene DOID:0060326 myelomeningocele ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22972774 12011778 SOD1 superoxide dismutase 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:730855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12011778 SOD1 superoxide dismutase 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:730855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12011778 SOD1 superoxide dismutase 1 gene DOID:0080322 polycystic kidney disease ISO RGD:3731 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney (rat) PMID:23006058|REF_RGD_ID:8657020 12011778 SOD1 superoxide dismutase 1 gene DOID:0080547 non-alcoholic steatohepatitis susceptibility ISO RGD:3731 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:20606728|REF_RGD_ID:21076282 12011778 SOD1 superoxide dismutase 1 gene DOID:10140 dry eye syndrome ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:24168989|REF_RGD_ID:8655609 12011778 SOD1 superoxide dismutase 1 gene DOID:10140 dry eye syndrome ISO RGD:11329 D RGD:9068941 20220825 MouseDO 12011778 SOD1 superoxide dismutase 1 gene DOID:10584 retinitis pigmentosa severity ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:21736939|REF_RGD_ID:8655617 12011778 SOD1 superoxide dismutase 1 gene DOID:10584 retinitis pigmentosa severity ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:19293779|REF_RGD_ID:8158049 12011778 SOD1 superoxide dismutase 1 gene DOID:10652 Alzheimer's disease ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:22072713|REF_RGD_ID:8655610 12011778 SOD1 superoxide dismutase 1 gene DOID:10652 Alzheimer's disease ISO RGD:3731 D RGD:9068941 20200609 RGD mRNA:altered expression:hippocampus, hypothalamus (rat) PMID:20027333|REF_RGD_ID:8657017 12011778 SOD1 superoxide dismutase 1 gene DOID:10652 Alzheimer's disease ISO RGD:730855 D RGD:9068941 20200609 RGD protein:decreased expression:frontal lobe (human) PMID:22072713|REF_RGD_ID:8655610 12011778 SOD1 superoxide dismutase 1 gene DOID:10763 hypertension ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:16864745|REF_RGD_ID:1581232 12011778 SOD1 superoxide dismutase 1 gene DOID:10763 hypertension ISO RGD:11329 D RGD:9068941 20200609 RGD associated with Hydronephrosis PMID:19403858|REF_RGD_ID:2312366 12011778 SOD1 superoxide dismutase 1 gene DOID:10763 hypertension ISO RGD:3731 D RGD:9068941 20200609 RGD mRNA:decreased expression:rostral ventrolateral medulla (rat) PMID:16716903|REF_RGD_ID:1580833 12011778 SOD1 superoxide dismutase 1 gene DOID:10763 hypertension ISO RGD:730855 D RGD:9068941 20200609 RGD protein,mRNA:decreased_expression:mononuclear_cells:after treatment, activity increased but mRNA expression decreased further PMID:17198913|REF_RGD_ID:1600704 12011778 SOD1 superoxide dismutase 1 gene DOID:10763 hypertension ISO RGD:730855 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:25101153|PMID:32165127|PMID:9024144 12011778 SOD1 superoxide dismutase 1 gene DOID:10763 hypertension treatment ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a rat model PMID:16716903|REF_RGD_ID:1580833 12011778 SOD1 superoxide dismutase 1 gene DOID:11054 urinary bladder cancer ISO RGD:730855 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 12011778 SOD1 superoxide dismutase 1 gene DOID:11088 asphyxia neonatorum ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963755 12011778 SOD1 superoxide dismutase 1 gene DOID:11446 sciatic neuropathy severity ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a rat model;DNA:missense mutation:cds:p.G93A (human) PMID:21489258|REF_RGD_ID:8655638 12011778 SOD1 superoxide dismutase 1 gene DOID:11446 sciatic neuropathy treatment ISO RGD:3731 D RGD:9068941 20200609 RGD PMID:15707675|REF_RGD_ID:8655979 12011778 SOD1 superoxide dismutase 1 gene DOID:11713 diabetic angiopathy ISO RGD:730855 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:16338763|REF_RGD_ID:1600708 12011778 SOD1 superoxide dismutase 1 gene DOID:11758 iron deficiency anemia ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17057260 12011778 SOD1 superoxide dismutase 1 gene DOID:11823 hepatorenal syndrome ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:15531919|REF_RGD_ID:1581228 12011778 SOD1 superoxide dismutase 1 gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11907800 12011778 SOD1 superoxide dismutase 1 gene DOID:12716 newborn respiratory distress syndrome susceptibility ISO RGD:730855 D RGD:9068941 20200609 RGD DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human) PMID:22574884|REF_RGD_ID:8655661 12011778 SOD1 superoxide dismutase 1 gene DOID:13025 retinopathy of prematurity susceptibility ISO RGD:730855 D RGD:9068941 20200609 RGD DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human) PMID:22958044|REF_RGD_ID:8655635 12011778 SOD1 superoxide dismutase 1 gene DOID:13241 Behcet's disease ISO RGD:730855 D RGD:9068941 20200609 RGD protein:increased activity:serum (human) PMID:12458889|REF_RGD_ID:1580846 12011778 SOD1 superoxide dismutase 1 gene DOID:13544 low tension glaucoma ISO RGD:11329 D RGD:9068941 20220825 MouseDO OMIM:606657 12011778 SOD1 superoxide dismutase 1 gene DOID:13544 low tension glaucoma ISO RGD:730855 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:21421868|REF_RGD_ID:8655579 12011778 SOD1 superoxide dismutase 1 gene DOID:14250 Down syndrome ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181815 12011778 SOD1 superoxide dismutase 1 gene DOID:14250 Down syndrome ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:15464862|REF_RGD_ID:8655616 12011778 SOD1 superoxide dismutase 1 gene DOID:14323 Marfan syndrome ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 12011778 SOD1 superoxide dismutase 1 gene DOID:14330 Parkinson's disease ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15824117|PMID:16353238|PMID:21318773 12011778 SOD1 superoxide dismutase 1 gene DOID:14330 Parkinson's disease treatment ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a rat model PMID:16353238|REF_RGD_ID:8655933 12011778 SOD1 superoxide dismutase 1 gene DOID:1459 hypothyroidism ISO RGD:3731 D RGD:9068941 20200609 RGD mRNA:decreased expression:renal cortex (rat) PMID:21607622|REF_RGD_ID:8655989 12011778 SOD1 superoxide dismutase 1 gene DOID:1459 hypothyroidism treatment ISO RGD:3731 D RGD:9068941 20200609 RGD PMID:22076484|REF_RGD_ID:8655983 12011778 SOD1 superoxide dismutase 1 gene DOID:1596 depressive disorder ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19605942 12011778 SOD1 superoxide dismutase 1 gene DOID:1679 cystitis ISO RGD:3731 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder PMID:26109091|REF_RGD_ID:11035303 12011778 SOD1 superoxide dismutase 1 gene DOID:1793 pancreatic cancer ISO RGD:730855 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:12499913|REF_RGD_ID:2317410 12011778 SOD1 superoxide dismutase 1 gene DOID:1936 atherosclerosis ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20720404 12011778 SOD1 superoxide dismutase 1 gene DOID:1936 atherosclerosis severity ISO RGD:11329 D RGD:9068941 20200609 RGD mRNA:decreased expression:thoracic aorta (mouse) PMID:20347443|REF_RGD_ID:8655856 12011778 SOD1 superoxide dismutase 1 gene DOID:224 transient cerebral ischemia ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12629175|PMID:15829915|PMID:16538228|PMID:16868554 12011778 SOD1 superoxide dismutase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a rat model PMID:17110031|REF_RGD_ID:8655986 12011778 SOD1 superoxide dismutase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:730855 D RGD:9068941 20200609 RGD human protein in a rat model PMID:21531066|REF_RGD_ID:8655885 12011778 SOD1 superoxide dismutase 1 gene DOID:231 motor neuron disease ISO RGD:730855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Motor neuron disease PMID:10400992|PMID:10593307|PMID:10732812|PMID:12165567|PMID:12358759|PMID:1259395|PMID:15056757|PMID:15208263|PMID:15258228|PMID:16423367|PMID:16674979|PMID:17394531|PMID:17543992|PMID:18273717|PMID:18301754|PMID:18951903|PMID:19259395|PMID:19483195|PMID:20184521|PMID:20399791|PMID:20540686|PMID:21120636|PMID:21257910|PMID:21549128|PMID:22292843|PMID:23264618|PMID:23280792|PMID:23726301|PMID:23773010|PMID:23873540|PMID:24325798|PMID:24439480|PMID:2517465|PMID:25741868|PMID:26362407|PMID:26467025|PMID:28089114|PMID:28105640|PMID:28291249|PMID:28430856|PMID:28492532|PMID:30637102|PMID:31788332|PMID:7635196|PMID:7673954|PMID:7997024|PMID:8004110|PMID:8058797|PMID:8069312|PMID:8446170|PMID:8528216|PMID:8572658|PMID:8875253|PMID:9029070 12011778 SOD1 superoxide dismutase 1 gene DOID:2316 brain ischemia ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11756504 12011778 SOD1 superoxide dismutase 1 gene DOID:2527 nephrosis ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2273594 12011778 SOD1 superoxide dismutase 1 gene DOID:2773 contact dermatitis ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12011778 SOD1 superoxide dismutase 1 gene DOID:2841 asthma ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22867017 12011778 SOD1 superoxide dismutase 1 gene DOID:2972 renal artery obstruction ISO RGD:3731 D RGD:9068941 20200609 RGD protein:decreased expression:kidney (rat) PMID:17959751|REF_RGD_ID:8655955 12011778 SOD1 superoxide dismutase 1 gene DOID:3021 acute kidney failure ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 12011778 SOD1 superoxide dismutase 1 gene DOID:3070 high grade glioma ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11861405 12011778 SOD1 superoxide dismutase 1 gene DOID:319 spinal cord disease ISO RGD:12246481 D RGD:9068941 20230518 OMIA Degenerative myelopathy PMID:12592926|PMID:18196743|PMID:19188595|PMID:19276068|PMID:20732599|PMID:21628865|PMID:21848967|PMID:22105877|PMID:22542607|PMID:23328634|PMID:23707216|PMID:23839236|PMID:23990410|PMID:24069350|PMID:24450472|PMID:24524809|PMID:24662024|PMID:26401327|PMID:26432396|PMID:27185954|PMID:27387721|PMID:27838005|PMID:27917507|PMID:27941298|PMID:30273700|PMID:31336405|PMID:31914665|PMID:32219101|PMID:32742795|PMID:33196688|PMID:33494906|PMID:34166783|PMID:34316194|PMID:34544496|PMID:34830115|PMID:35364344|PMID:35804546|PMID:36615350|PMID:36848350|PMID:37106965|PMID:37156398|PMID:37179117|PMID:8143248 12011778 SOD1 superoxide dismutase 1 gene DOID:326 ischemia ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10698074 12011778 SOD1 superoxide dismutase 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:730855 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:10439968|PMID:10809943|PMID:10889018|PMID:11220750|PMID:11284995|PMID:11369193|PMID:11467054|PMID:11997070|PMID:12442272|PMID:12482932|PMID:14506936|PMID:14517684|PMID:14623191|PMID:15069187|PMID:15258228|PMID:15465081|PMID:15952898|PMID:16020530|PMID:16945901|PMID:17146286|PMID:17255946|PMID:17420412|PMID:17483589|PMID:18319614|PMID:18428003|PMID:18608106|PMID:18951903|PMID:19344917|PMID:19483195|PMID:19635794|PMID:19703565|PMID:19922148|PMID:19965850|PMID:20189984|PMID:20309572|PMID:20399791|PMID:20460594|PMID:20540686|PMID:22264771|PMID:22292843|PMID:22475618|PMID:22632444|PMID:23062701|PMID:23100398|PMID:23280792|PMID:23962495|PMID:25025039|PMID:25052939|PMID:25299611|PMID:25509359|PMID:25600987|PMID:25741868|PMID:25792239|PMID:25806427|PMID:26362407|PMID:26467025|PMID:26742954|PMID:27348463|PMID:28105640|PMID:28430856|PMID:28492532|PMID:29411640|PMID:29861044|PMID:30637102|PMID:31788332|PMID:7647793|PMID:7655469|PMID:7836951|PMID:8298637|PMID:8813280|PMID:8875253|PMID:8909456|PMID:9365366|PMID:9817920 12011778 SOD1 superoxide dismutase 1 gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:730855 D RGD:9068941 20200609 RGD PMID:26826269|REF_RGD_ID:13524551 12011778 SOD1 superoxide dismutase 1 gene DOID:3393 coronary artery disease ISO RGD:730855 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:16338763|REF_RGD_ID:1600708 12011778 SOD1 superoxide dismutase 1 gene DOID:3491 Turner syndrome ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 12011778 SOD1 superoxide dismutase 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:3731 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex (rat) PMID:22133807|REF_RGD_ID:8657023 12011778 SOD1 superoxide dismutase 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3731 D RGD:9068941 20200609 RGD PMID:22001340|REF_RGD_ID:8657021 12011778 SOD1 superoxide dismutase 1 gene DOID:3687 MELAS syndrome ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11907800 12011778 SOD1 superoxide dismutase 1 gene DOID:3770 pulmonary fibrosis ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26699812 12011778 SOD1 superoxide dismutase 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:3731 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:26534761|REF_RGD_ID:11035301 12011778 SOD1 superoxide dismutase 1 gene DOID:409 liver disease ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17877538 12011778 SOD1 superoxide dismutase 1 gene DOID:4195 hyperglycemia treatment ISO RGD:730855 D RGD:9068941 20200609 RGD associated with Ischemic Attack, Transient; human gene in a rat model PMID:17272778|REF_RGD_ID:1642027 12011778 SOD1 superoxide dismutase 1 gene DOID:4448 macular degeneration ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:16844785|REF_RGD_ID:1581207 12011778 SOD1 superoxide dismutase 1 gene DOID:4448 macular degeneration susceptibility ISO RGD:730855 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23848218|REF_RGD_ID:8655651 12011778 SOD1 superoxide dismutase 1 gene DOID:5113 nutritional deficiency disease ISO RGD:3731 D RGD:9068941 20200609 RGD Copper Deficiency; protein:decreased activity:erythrocyte (rat) PMID:15337829|REF_RGD_ID:1358244 12011778 SOD1 superoxide dismutase 1 gene DOID:5113 nutritional deficiency disease ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12514262 12011778 SOD1 superoxide dismutase 1 gene DOID:520 aortic disease ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 12011778 SOD1 superoxide dismutase 1 gene DOID:5434 scrapie ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11701772 12011778 SOD1 superoxide dismutase 1 gene DOID:576 proteinuria ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2273594 12011778 SOD1 superoxide dismutase 1 gene DOID:5844 myocardial infarction ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:11864929|REF_RGD_ID:1581222 12011778 SOD1 superoxide dismutase 1 gene DOID:5844 myocardial infarction ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21600015 12011778 SOD1 superoxide dismutase 1 gene DOID:5844 myocardial infarction treatment ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a rat model PMID:22006090|REF_RGD_ID:8655953 12011778 SOD1 superoxide dismutase 1 gene DOID:6000 congestive heart failure ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20304815 12011778 SOD1 superoxide dismutase 1 gene DOID:630 genetic disease ISO RGD:730855 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14506936|PMID:16674979|PMID:18504130|PMID:19363716|PMID:21603025|PMID:23949607|PMID:26467025|PMID:27884173|PMID:28492532|PMID:28620717|PMID:8938700|PMID:9365366 12011778 SOD1 superoxide dismutase 1 gene DOID:649 prion disease disease_progression ISO RGD:730855 D RGD:9068941 20200609 RGD PMID:18559949|REF_RGD_ID:13782161 12011778 SOD1 superoxide dismutase 1 gene DOID:678 progressive supranuclear palsy ISO RGD:730855 D RGD:9068941 20200609 RGD protein:increased activity:brain (human) PMID:11879807|REF_RGD_ID:8655859 12011778 SOD1 superoxide dismutase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:730855 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 12011778 SOD1 superoxide dismutase 1 gene DOID:767 muscular atrophy ISO RGD:730855 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:24163136|PMID:29374221 12011778 SOD1 superoxide dismutase 1 gene DOID:7998 hyperthyroidism ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19914224 12011778 SOD1 superoxide dismutase 1 gene DOID:7998 hyperthyroidism treatment ISO RGD:3731 D RGD:9068941 20200609 RGD PMID:22476324|REF_RGD_ID:8655984 12011778 SOD1 superoxide dismutase 1 gene DOID:83 cataract ISO RGD:11329 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19324844|REF_RGD_ID:2312362 12011778 SOD1 superoxide dismutase 1 gene DOID:83 cataract ISO RGD:730855 D RGD:9068941 20200609 RGD PMID:16254550|REF_RGD_ID:1581192 12011778 SOD1 superoxide dismutase 1 gene DOID:83 cataract ISO RGD:730855 D RGD:9068941 20200609 RGD mRNA:decreased expression:eye lens (human) PMID:23970468|REF_RGD_ID:8655570 12011778 SOD1 superoxide dismutase 1 gene DOID:83 cataract susceptibility ISO RGD:730855 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS3-251A>G (rs2070424) (human) PMID:21921984|REF_RGD_ID:8655573 12011778 SOD1 superoxide dismutase 1 gene DOID:8466 retinal degeneration ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16741961|PMID:19074809 12011778 SOD1 superoxide dismutase 1 gene DOID:863 nervous system disease ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11158245 12011778 SOD1 superoxide dismutase 1 gene DOID:8947 diabetic retinopathy ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19074809 12011778 SOD1 superoxide dismutase 1 gene DOID:8947 diabetic retinopathy ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:19074809|REF_RGD_ID:8655572 12011778 SOD1 superoxide dismutase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17457363 12011778 SOD1 superoxide dismutase 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a rat model PMID:16689664|REF_RGD_ID:8655990 12011778 SOD1 superoxide dismutase 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:730855 D RGD:9068941 20200609 RGD human protein in a rat model PMID:18722523|REF_RGD_ID:8655939 12011778 SOD1 superoxide dismutase 1 gene DOID:9000307 Presbycusis ISO RGD:11329 D RGD:9068941 20200609 RGD mRNA:increased expression:cochlea (mouse) PMID:11678164|REF_RGD_ID:8655636 12011778 SOD1 superoxide dismutase 1 gene DOID:9000307 Presbycusis severity ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:10464373|REF_RGD_ID:8655665 12011778 SOD1 superoxide dismutase 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:730855 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 12011778 SOD1 superoxide dismutase 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:3731 D RGD:9068941 20200609 RGD protein:decreased expression:mammary gland (rat) PMID:17157473|REF_RGD_ID:8657018 12011778 SOD1 superoxide dismutase 1 gene DOID:9000578 SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE ISO RGD:730855 D RGD:7240710 20191016 OMIM 12011778 SOD1 superoxide dismutase 1 gene DOID:9000578 SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE ISO RGD:730855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic tetraplegia and axial hypotonia, progressive PMID:15050437|PMID:15208263|PMID:16945901|PMID:20075587|PMID:20472325|PMID:23280792|PMID:25741868|PMID:28492532|PMID:29982983|PMID:31314961|PMID:31332433 12011778 SOD1 superoxide dismutase 1 gene DOID:9000815 Aortic Calcification ISO RGD:3731 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta PMID:25430697|REF_RGD_ID:11038653 12011778 SOD1 superoxide dismutase 1 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22247605 12011778 SOD1 superoxide dismutase 1 gene DOID:9000918 Disease Progression ISO RGD:730855 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:29434186 12011778 SOD1 superoxide dismutase 1 gene DOID:9000998 Brain Injuries ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:16248885|REF_RGD_ID:1581214 12011778 SOD1 superoxide dismutase 1 gene DOID:9001044 Choroidal Neovascularization ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:16844785|REF_RGD_ID:1581207 12011778 SOD1 superoxide dismutase 1 gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a rat model PMID:11266387|REF_RGD_ID:9587792 12011778 SOD1 superoxide dismutase 1 gene DOID:9001472 Nasal Polyps ISO RGD:730855 D RGD:9068941 20200609 RGD associated with Rhinosinusitis;protein:decreased expression:nasal mucosa: PMID:23921602|REF_RGD_ID:8547534 12011778 SOD1 superoxide dismutase 1 gene DOID:9001472 Nasal Polyps ISO RGD:730855 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:middle nasal turbinate, lamella (human) PMID:16540901|REF_RGD_ID:1581230 12011778 SOD1 superoxide dismutase 1 gene DOID:9001592 Pathological Protein Aggregation ISO RGD:730855 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:29649360 12011778 SOD1 superoxide dismutase 1 gene DOID:9001981 Weight Loss ISO RGD:730855 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:24163136|PMID:29434186 12011778 SOD1 superoxide dismutase 1 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a rat model PMID:11779401|PMID:16555330|REF_RGD_ID:1581095|REF_RGD_ID:8655889 12011778 SOD1 superoxide dismutase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:11329 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:19470681|REF_RGD_ID:2312361 12011778 SOD1 superoxide dismutase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:730855 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphisms: :multiple PMID:17914031|REF_RGD_ID:2312365 12011778 SOD1 superoxide dismutase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:11522679|REF_RGD_ID:8655571 12011778 SOD1 superoxide dismutase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21893188 12011778 SOD1 superoxide dismutase 1 gene DOID:9002315 Kidney Calculi ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24360074 12011778 SOD1 superoxide dismutase 1 gene DOID:9002395 Hypothermia ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11731100 12011778 SOD1 superoxide dismutase 1 gene DOID:9002669 Hypoxia treatment ISO RGD:3731 D RGD:9068941 20200609 RGD PMID:21453737|REF_RGD_ID:8657026 12011778 SOD1 superoxide dismutase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16179351 12011778 SOD1 superoxide dismutase 1 gene DOID:9002869 Schistosomiasis Mansoni ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16564582 12011778 SOD1 superoxide dismutase 1 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:16741961|REF_RGD_ID:8655606 12011778 SOD1 superoxide dismutase 1 gene DOID:9002910 Hearing Loss, Noise-Induced severity ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:10436316|REF_RGD_ID:8655966 12011778 SOD1 superoxide dismutase 1 gene DOID:9002910 Hearing Loss, Noise-Induced susceptibility ISO RGD:730855 D RGD:9068941 20200609 RGD DNA:snps, haplotypes:introns:multiple (human) PMID:19895330|REF_RGD_ID:8655611 12011778 SOD1 superoxide dismutase 1 gene DOID:9002910 Hearing Loss, Noise-Induced susceptibility ISO RGD:730855 D RGD:9068941 20200609 RGD DNA:snps:introns:IVS2+193T>G (rs10432782), IVS3-251A>G (rs2070424) (human) PMID:22931816|REF_RGD_ID:8655851 12011778 SOD1 superoxide dismutase 1 gene DOID:9002955 Nerve Degeneration ISO RGD:730855 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:17581637|PMID:19243126|PMID:24885036|PMID:24918341 12011778 SOD1 superoxide dismutase 1 gene DOID:9003603 Hemolysis ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25247420 12011778 SOD1 superoxide dismutase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:15364863|REF_RGD_ID:1580834 12011778 SOD1 superoxide dismutase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15364863|PMID:16397181|PMID:23061969|PMID:23743330 12011778 SOD1 superoxide dismutase 1 gene DOID:9004484 Sepsis ISO RGD:3731 D RGD:9068941 20200609 RGD PMID:26266917|REF_RGD_ID:11035300 12011778 SOD1 superoxide dismutase 1 gene DOID:9004538 Hearing Loss ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:16055286|REF_RGD_ID:1581213 12011778 SOD1 superoxide dismutase 1 gene DOID:9004538 Hearing Loss ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11474137 12011778 SOD1 superoxide dismutase 1 gene DOID:9004989 Protein Deficiency ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16214328 12011778 SOD1 superoxide dismutase 1 gene DOID:9005246 Paralysis ISO RGD:730855 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:29434186 12011778 SOD1 superoxide dismutase 1 gene DOID:9005372 Inflammation ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22867017 12011778 SOD1 superoxide dismutase 1 gene DOID:9005452 Ureteral Calculi ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24360074 12011778 SOD1 superoxide dismutase 1 gene DOID:9005532 Muscle Weakness ISO RGD:730855 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:29434186 12011778 SOD1 superoxide dismutase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3731 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:20924670|REF_RGD_ID:8655956 12011778 SOD1 superoxide dismutase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23090186 12011778 SOD1 superoxide dismutase 1 gene DOID:9005749 Necrosis ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9548797 12011778 SOD1 superoxide dismutase 1 gene DOID:9006024 Hypotension ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9024144 12011778 SOD1 superoxide dismutase 1 gene DOID:9006205 Animal Disease Models ISO RGD:730855 D RGD:9068941 20211015 CTD CTD Direct Evidence: marker/mechanism PMID:12586733|PMID:12684256|PMID:19227972|PMID:20177826|PMID:21867702|PMID:23583883|PMID:24885036|PMID:28038988|PMID:28123103|PMID:29374221|PMID:29434186 12011778 SOD1 superoxide dismutase 1 gene DOID:9006230 Neurologic Gait Disorders ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21867702 12011778 SOD1 superoxide dismutase 1 gene DOID:9006617 Fatigue ISO RGD:730855 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:28123103 12011778 SOD1 superoxide dismutase 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 12011778 SOD1 superoxide dismutase 1 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19951287 12011778 SOD1 superoxide dismutase 1 gene DOID:9007096 Stroke ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10698074 12011778 SOD1 superoxide dismutase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750|PMID:27349771 12011778 SOD1 superoxide dismutase 1 gene DOID:9007402 Gliosis ISO RGD:730855 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:24918341|PMID:29434186 12011778 SOD1 superoxide dismutase 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21742780|PMID:2982513 12011778 SOD1 superoxide dismutase 1 gene DOID:9007748 Retinal Neovascularization ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:19142872|REF_RGD_ID:8655607 12011778 SOD1 superoxide dismutase 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:3731 D RGD:9068941 20200609 RGD PMID:23629152|REF_RGD_ID:8655965 12011778 SOD1 superoxide dismutase 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:730855 D RGD:9068941 20200609 RGD PMID:12668130|REF_RGD_ID:11035287 12011778 SOD1 superoxide dismutase 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:730855 D RGD:9068941 20200609 RGD human protein in a rat model PMID:19277497|REF_RGD_ID:8655884 12011778 SOD1 superoxide dismutase 1 gene DOID:9008510 Chronic Hepatitis ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 12011778 SOD1 superoxide dismutase 1 gene DOID:9111 cutaneous leishmaniasis ISO RGD:730855 D RGD:9068941 20200609 RGD protein:increased activity:erythrocyte: PMID:9892499|REF_RGD_ID:9479188 12011778 SOD1 superoxide dismutase 1 gene DOID:9282 ocular hypertension ISO RGD:3731 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:18626730|REF_RGD_ID:2303613 12011778 SOD1 superoxide dismutase 1 gene DOID:9351 diabetes mellitus ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23786522 12011778 SOD1 superoxide dismutase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:16005359|REF_RGD_ID:1581216 12011778 SOD1 superoxide dismutase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15531508 12011778 SOD1 superoxide dismutase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730855 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:IVS3+35A>C (rs2234694) (human) PMID:18423055|REF_RGD_ID:2312364 12011778 SOD1 superoxide dismutase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730855 D RGD:9068941 20200609 RGD protein:decreased expression:erythrocyte PMID:19317795|REF_RGD_ID:2312363 12011778 SOD1 superoxide dismutase 1 gene DOID:9452 fatty liver disease ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27349771 12011778 SOD1 superoxide dismutase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730855 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:IVS3+35A>C (rs2234694) (human) PMID:18423055|REF_RGD_ID:2312364 12011778 SOD1 superoxide dismutase 1 gene DOID:9923 developmental coordination disorder ISO RGD:730855 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:29434186 12011778 SOD1 superoxide dismutase 1 gene DOID:9970 obesity ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24042701 12011778 Sod1 superoxide dismutase 1, soluble gene DOID:649 prion disease disease_progression ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:23349894|REF_RGD_ID:13782160 12011787 RTCB RNA 2',3'-cyclic phosphate and 5'-OH ligase gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1605075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 12011787 RTCB RNA 2',3'-cyclic phosphate and 5'-OH ligase gene DOID:630 genetic disease ISO RGD:1605075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12011787 RTCB RNA 2',3'-cyclic phosphate and 5'-OH ligase gene DOID:9001750 Glucose-Galactose Malabsorption ISO RGD:1605075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital glucose-galactose malabsorption PMID:28492532 12011803 PON3 paraoxonase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1344009 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12011803 PON3 paraoxonase 3 gene DOID:10608 celiac disease ISO RGD:1344009 D RGD:9068941 20200609 RGD mRNA:decreased expression:duodenum PMID:17664137|REF_RGD_ID:5509924 12011803 PON3 paraoxonase 3 gene DOID:10652 Alzheimer's disease ISO RGD:1344009 D RGD:9068941 20200609 RGD DNA:polymorphisms:multiple SNPs PMID:16319130|REF_RGD_ID:5509926 12011803 PON3 paraoxonase 3 gene DOID:1936 atherosclerosis ISO RGD:1344009 D RGD:9068941 20200609 RGD mRNA:altered expression::human transgene expression in ApoE-KO mice was protective PMID:20182519|REF_RGD_ID:5509927 12011803 PON3 paraoxonase 3 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1344009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532 12011803 PON3 paraoxonase 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12011803 PON3 paraoxonase 3 gene DOID:630 genetic disease ISO RGD:1344009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12011803 PON3 paraoxonase 3 gene DOID:8577 ulcerative colitis ISO RGD:1344009 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon PMID:17664137|REF_RGD_ID:5509924 12011803 PON3 paraoxonase 3 gene DOID:8778 Crohn's disease ISO RGD:1344009 D RGD:9068941 20200609 RGD mRNA:decreased expression:terminal ileum PMID:17664137|REF_RGD_ID:5509924 12011816 CRYAB crystallin alpha B gene DOID:0050537 posterior polar cataract ISO RGD:737518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Posterior polar cataract 12011816 CRYAB crystallin alpha B gene DOID:0050700 cardiomyopathy ISO RGD:737518 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:11013455|PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26265630|PMID:26694549|PMID:26961874|PMID:28492532|PMID:29544605|PMID:31215171 12011816 CRYAB crystallin alpha B gene DOID:0050700 cardiomyopathy ISO RGD:737518 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:11013455|PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:17576681|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26265630|PMID:26694549|PMID:26961874|PMID:28492532|PMID:29544605|PMID:9536098 12011816 CRYAB crystallin alpha B gene DOID:0050700 cardiomyopathy ISO RGD:737518 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:11013455|PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:17576681|PMID:18587492|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26265630|PMID:26694549|PMID:26961874|PMID:28492532|PMID:28640093|PMID:29544605|PMID:31215171|PMID:32110827|PMID:33834702|PMID:33906374|PMID:34426522|PMID:35531184|PMID:9536098 12011816 CRYAB crystallin alpha B gene DOID:0080093 myofibrillar myopathy 2 ISO RGD:737518 D RGD:7240710 20180130 OMIM 12011816 CRYAB crystallin alpha B gene DOID:0080093 myofibrillar myopathy 2 ISO RGD:737518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 2 PMID:11013455|PMID:12601044|PMID:12812987|PMID:14681890|PMID:16483541|PMID:19282282|PMID:20301672|PMID:21130652|PMID:21337604|PMID:21920752|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25741868|PMID:26265630|PMID:26402864|PMID:26467025|PMID:26542570|PMID:26961874|PMID:27226619|PMID:27260392|PMID:28492532|PMID:28798025|PMID:31127727|PMID:32013205|PMID:32420686|PMID:32430163|PMID:570292|PMID:8000975|PMID:9731540 12011816 CRYAB crystallin alpha B gene DOID:0080307 myofibrillar myopathy ISO RGD:737518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26467025|PMID:26694549|PMID:26961874|PMID:28492532|PMID:28690483 12011816 CRYAB crystallin alpha B gene DOID:0080309 fatal infantile hypertonic myofibrillar myopathy ISO RGD:737518 D RGD:7240710 20180620 OMIM 12011816 CRYAB crystallin alpha B gene DOID:0080309 fatal infantile hypertonic myofibrillar myopathy ISO RGD:737518 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fatal infantile hypertonic myofibrillar myopathy | ClinVar Annotator: match by term: MFM, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED PMID:11013455|PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:19282282|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26265630|PMID:26467025|PMID:26694549|PMID:26961874|PMID:28492532|PMID:28690483|PMID:28798025 12011816 CRYAB crystallin alpha B gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26694549|PMID:26961874|PMID:28492532 12011816 CRYAB crystallin alpha B gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:737518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 12011816 CRYAB crystallin alpha B gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:737518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:25966638|PMID:28492532 12011816 CRYAB crystallin alpha B gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:737518 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 12011816 CRYAB crystallin alpha B gene DOID:0110250 cataract 16 multiple types ISO RGD:737518 D RGD:7240710 20180130 OMIM 12011816 CRYAB crystallin alpha B gene DOID:0110250 cataract 16 multiple types ISO RGD:737518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CATARACT, CONGENITAL LAMELLAR | ClinVar Annotator: match by term: Cataract 16 multiple types PMID:11013455|PMID:11577372|PMID:1560021|PMID:16483541|PMID:16505043|PMID:16793013|PMID:16877416|PMID:17116488|PMID:19282282|PMID:19461931|PMID:20141356|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26265630|PMID:26467025|PMID:26694549|PMID:26961874|PMID:28492532|PMID:28690483|PMID:28798025 12011816 CRYAB crystallin alpha B gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26694549|PMID:26961874|PMID:28492532 12011816 CRYAB crystallin alpha B gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:737518 D RGD:7240710 20180130 OMIM 12011816 CRYAB crystallin alpha B gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:737518 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:11013455|PMID:14681890|PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:17576681|PMID:18587492|PMID:19282282|PMID:19461931|PMID:19597569|PMID:20141356|PMID:20171888|PMID:20301672|PMID:21087083|PMID:21130652|PMID:21337604|PMID:21520333|PMID:21866213|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23197161|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25214167|PMID:25741868|PMID:26265630|PMID:26402864|PMID:26467025|PMID:26627873|PMID:26694549|PMID:26961874|PMID:27226619|PMID:27260392|PMID:27532257|PMID:28492532|PMID:28493373|PMID:28640093|PMID:28690483|PMID:28798025|PMID:29544605|PMID:30847666|PMID:31127727|PMID:31215171|PMID:31678106|PMID:31983221|PMID:32013205|PMID:32110827|PMID:32430163|PMID:32573669|PMID:32880476|PMID:33834702|PMID:33906374|PMID:34426522|PMID:35531184|PMID:9536098 12011816 CRYAB crystallin alpha B gene DOID:0111425 restrictive cardiomyopathy 1 ISO RGD:737518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 PMID:21920752|PMID:23194663|PMID:26627873|PMID:28492532|PMID:28493373 12011816 CRYAB crystallin alpha B gene DOID:1059 intellectual disability ISO RGD:737518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12011816 CRYAB crystallin alpha B gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26694549|PMID:26961874|PMID:28492532 12011816 CRYAB crystallin alpha B gene DOID:12704 ataxia telangiectasia ISO RGD:737518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12011816 CRYAB crystallin alpha B gene DOID:1289 neurodegenerative disease ISO RGD:737518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 12011816 CRYAB crystallin alpha B gene DOID:12930 dilated cardiomyopathy ISO RGD:737518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:19597569|PMID:26402864|PMID:28492532 12011816 CRYAB crystallin alpha B gene DOID:1749 squamous cell carcinoma ISO RGD:737518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12011816 CRYAB crystallin alpha B gene DOID:4448 macular degeneration treatment ISO RGD:2414 D RGD:9068941 20200609 RGD PMID:25483086|REF_RGD_ID:13503350 12011816 CRYAB crystallin alpha B gene DOID:4450 renal cell carcinoma ISO RGD:737518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 12011816 CRYAB crystallin alpha B gene DOID:6000 congestive heart failure ISO RGD:737518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26694549|PMID:26961874|PMID:28492532 12011816 CRYAB crystallin alpha B gene DOID:630 genetic disease ISO RGD:737518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12011816 CRYAB crystallin alpha B gene DOID:83 cataract ISO RGD:737518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26694549|PMID:26961874|PMID:28492532 12011816 CRYAB crystallin alpha B gene DOID:9000117 Esophageal Neoplasms ISO RGD:737518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 12011816 CRYAB crystallin alpha B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12011816 CRYAB crystallin alpha B gene DOID:9002304 Prostatic Neoplasms ISO RGD:737518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12011816 CRYAB crystallin alpha B gene DOID:9002928 Colonic Neoplasms ISO RGD:737518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12011816 CRYAB crystallin alpha B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:737518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12011816 CRYAB crystallin alpha B gene DOID:9005873 Tongue Neoplasms ISO RGD:737518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19840781 12011816 CRYAB crystallin alpha B gene DOID:9007102 Myocardial Ischemia ISO RGD:2414 D RGD:9068941 20200609 RGD PMID:11945023|REF_RGD_ID:704398 12011816 CRYAB crystallin alpha B gene DOID:9007364 Mouth Neoplasms ISO RGD:737518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12011816 CRYAB crystallin alpha B gene DOID:9008217 Hemorrhage ISO RGD:2414 D RGD:9068941 20200609 RGD associated with Wounds and Injuries;protein:decreased phosphorylation:heart PMID:17293487|REF_RGD_ID:2303639 12011816 CRYAB crystallin alpha B gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:737518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 12011829 ADRB3 adrenoceptor beta 3 gene DOID:0060180 colitis ISO RGD:2061 D RGD:9068941 20200609 RGD mRNA:decreased expression:distal colon, mucosa (rat) PMID:18492028|REF_RGD_ID:5684890 12011829 ADRB3 adrenoceptor beta 3 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W64R (rs4994) (human) PMID:15318095|REF_RGD_ID:5684892 12011829 ADRB3 adrenoceptor beta 3 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:737467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 12011829 ADRB3 adrenoceptor beta 3 gene DOID:0110429 dilated cardiomyopathy 1H susceptibility ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation, haplotype:cds:p.W64R rs4994 (human) PMID:20123316|REF_RGD_ID:5684357 12011829 ADRB3 adrenoceptor beta 3 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:737467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 12011829 ADRB3 adrenoceptor beta 3 gene DOID:10652 Alzheimer's disease ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W64R (human) PMID:17440948|REF_RGD_ID:2311642 12011829 ADRB3 adrenoceptor beta 3 gene DOID:10763 hypertension ISO RGD:737467 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.W64R (human) PMID:10981554|REF_RGD_ID:2313166 12011829 ADRB3 adrenoceptor beta 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:2061 D RGD:9068941 20200609 RGD mRNA:increased expression:gastrointestinal system mesentery, adipose tissue PMID:19158405|REF_RGD_ID:2313167 12011829 ADRB3 adrenoceptor beta 3 gene DOID:1168 familial hyperlipidemia ISO RGD:737467 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16027735 12011829 ADRB3 adrenoceptor beta 3 gene DOID:13025 retinopathy of prematurity ISO RGD:10110 D RGD:9068941 20200609 RGD protein:increased expression:retina (mouse) PMID:20739470|REF_RGD_ID:5684355 12011829 ADRB3 adrenoceptor beta 3 gene DOID:13189 gout ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W64R rs4994 (human) PMID:21285172|REF_RGD_ID:5684422 12011829 ADRB3 adrenoceptor beta 3 gene DOID:1380 endometrial cancer susceptibility ISO RGD:737467 D RGD:9068941 20200609 RGD associated with Obesity;DNA:polymorphism: :p.W64R (human) PMID:15743038|REF_RGD_ID:2313164 12011829 ADRB3 adrenoceptor beta 3 gene DOID:1485 cystic fibrosis ISO RGD:737467 D RGD:9068941 20200609 RGD protein:increased expression:bronchus PMID:20203292|REF_RGD_ID:5129107 12011829 ADRB3 adrenoceptor beta 3 gene DOID:2018 hyperinsulinism ISO RGD:10110 D RGD:9068941 20200609 RGD associated with Obesity;mRNA:decreased expression:epidydimis, white fat PMID:11014217|REF_RGD_ID:2313165 12011829 ADRB3 adrenoceptor beta 3 gene DOID:3393 coronary artery disease ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W64R (human) PMID:9126344|REF_RGD_ID:1559325 12011829 ADRB3 adrenoceptor beta 3 gene DOID:3393 coronary artery disease no_association ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W64R rs4994 (human) PMID:11229427|REF_RGD_ID:5684412 12011829 ADRB3 adrenoceptor beta 3 gene DOID:6000 congestive heart failure ISO RGD:2061 D RGD:9068941 20200609 RGD protein:increased expression:heart ventricle (rat) PMID:21549119|REF_RGD_ID:5684917 12011829 ADRB3 adrenoceptor beta 3 gene DOID:6000 congestive heart failure ISO RGD:737467 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15009959|PMID:17440824 12011829 ADRB3 adrenoceptor beta 3 gene DOID:6000 congestive heart failure ISO RGD:737467 D RGD:9068941 20200609 RGD protein:increased expression:left ventricle, myocardium (human) PMID:11273992|REF_RGD_ID:5684398 12011829 ADRB3 adrenoceptor beta 3 gene DOID:607 paraplegia ISO RGD:737467 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12011829 ADRB3 adrenoceptor beta 3 gene DOID:630 genetic disease ISO RGD:737467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12011829 ADRB3 adrenoceptor beta 3 gene DOID:7148 rheumatoid arthritis ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W64R rs4994 (human) PMID:12739037|REF_RGD_ID:5684893 12011829 ADRB3 adrenoceptor beta 3 gene DOID:8947 diabetic retinopathy ISO RGD:737467 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.W64R rs4994 (human) PMID:9313761|REF_RGD_ID:5684400 12011829 ADRB3 adrenoceptor beta 3 gene DOID:9000099 Experimental Colitis no_association ISO RGD:2061 D RGD:9068941 20200609 RGD mRNA:unaltered expression:colon (rat) PMID:11803250|REF_RGD_ID:5684894 12011829 ADRB3 adrenoceptor beta 3 gene DOID:9000528 Coronary Disease ISO RGD:737467 D RGD:9068941 20200609 RGD PMID:10421225|REF_RGD_ID:1559326 12011829 ADRB3 adrenoceptor beta 3 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:737467 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.W64R rs4994(human) PMID:20536507|REF_RGD_ID:5684776 12011829 ADRB3 adrenoceptor beta 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2061 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:19785950|REF_RGD_ID:5129118 12011829 ADRB3 adrenoceptor beta 3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737467 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.W64R rs4994 (human) PMID:9867224|REF_RGD_ID:5684403 12011829 ADRB3 adrenoceptor beta 3 gene DOID:9004484 Sepsis ISO RGD:737467 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart left ventricle (human) PMID:17999941|REF_RGD_ID:2292119 12011829 ADRB3 adrenoceptor beta 3 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:737467 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17345787 12011829 ADRB3 adrenoceptor beta 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2061 D RGD:9068941 20200609 RGD protein:increased expression:left ventricle muscular part PMID:21054861|REF_RGD_ID:5129115 12011829 ADRB3 adrenoceptor beta 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737467 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17622774 12011829 ADRB3 adrenoceptor beta 3 gene DOID:9007692 Insulin Resistance ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W64R rs4994 (human) PMID:10582543|REF_RGD_ID:5684421 12011829 ADRB3 adrenoceptor beta 3 gene DOID:9007692 Insulin Resistance ISO RGD:737467 D RGD:9068941 20200609 RGD associated with Obesity;DNA:polymorphism: :p.W64R (human) PMID:17299491|REF_RGD_ID:2313158 12011829 ADRB3 adrenoceptor beta 3 gene DOID:9007692 Insulin Resistance no_association ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W64R rs4994 (human) PMID:10421225|REF_RGD_ID:1559326 12011829 ADRB3 adrenoceptor beta 3 gene DOID:9008856 HIV-Associated Lipodystrophy Syndrome ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W64R rs4994 (human) PMID:10930169|REF_RGD_ID:5684895 12011829 ADRB3 adrenoceptor beta 3 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W64R rs4994 (human) PMID:19659999|REF_RGD_ID:2313148 12011829 ADRB3 adrenoceptor beta 3 gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.I62M (human) PMID:16444766|REF_RGD_ID:2313163 12011829 ADRB3 adrenoceptor beta 3 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.W64R (human) PMID:17727676|REF_RGD_ID:2313149 12011829 ADRB3 adrenoceptor beta 3 gene DOID:9970 obesity ISO RGD:737467 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Obesity PMID:10323390|PMID:10323402|PMID:10999801|PMID:11095426|PMID:15472194|PMID:25741868|PMID:7609750|PMID:7609752|PMID:8903328|PMID:8954053|PMID:9054940|PMID:9100608|PMID:9112025|PMID:9449691|PMID:9709965|PMID:9814483|PMID:9892244 12011829 ADRB3 adrenoceptor beta 3 gene DOID:9970 obesity no_association ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W64R rs4994 (human) PMID:11882399|REF_RGD_ID:5684409 12011829 ADRB3 adrenoceptor beta 3 gene DOID:9970 obesity susceptibility ISO RGD:737467 D RGD:7240710 20230505 OMIM 12011836 LOC100973499 keratin, type I cuticular Ha4 gene DOID:630 genetic disease ISO RGD:1350893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12011847 URM1 ubiquitin related modifier 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315307 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12011847 URM1 ubiquitin related modifier 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1315307 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12011847 URM1 ubiquitin related modifier 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315307 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12011847 URM1 ubiquitin related modifier 1 gene DOID:630 genetic disease ISO RGD:1315307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12011847 URM1 ubiquitin related modifier 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1315307 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12011847 URM1 ubiquitin related modifier 1 gene DOID:9000918 Disease Progression ISO RGD:1315307 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12011861 EIF3A eukaryotic translation initiation factor 3 subunit A gene DOID:630 genetic disease ISO RGD:1316362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12011861 EIF3A eukaryotic translation initiation factor 3 subunit A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316362 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12011887 TMEM17 transmembrane protein 17 gene DOID:0050777 Joubert syndrome ISO RGD:1321545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 12011887 TMEM17 transmembrane protein 17 gene DOID:0060316 orofaciodigital syndrome I ISO RGD:1321545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome I PMID:25741868|PMID:26982032 12011887 TMEM17 transmembrane protein 17 gene DOID:5419 schizophrenia ISO RGD:1321545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12011887 TMEM17 transmembrane protein 17 gene DOID:630 genetic disease ISO RGD:1321545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12011887 TMEM17 transmembrane protein 17 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12011895 ATR ATR serine/threonine kinase gene DOID:0050569 Seckel syndrome ISO RGD:1314047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seckel syndrome PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12011895 ATR ATR serine/threonine kinase gene DOID:0070007 Seckel syndrome 1 ISO RGD:1314047 D RGD:7240710 20180130 OMIM 12011895 ATR ATR serine/threonine kinase gene DOID:0070007 Seckel syndrome 1 ISO RGD:1314047 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seckel syndrome 1 PMID:10691732|PMID:11721054|PMID:12640452|PMID:15987455|PMID:16199547|PMID:17010193|PMID:17576681|PMID:18414213|PMID:21228398|PMID:23111928|PMID:23144622|PMID:24033266|PMID:25741868|PMID:26193622|PMID:26845104|PMID:28492532|PMID:29439820|PMID:30159786|PMID:30199583|PMID:30262796|PMID:30995915|PMID:33057211|PMID:34008015|PMID:9536098 12011895 ATR ATR serine/threonine kinase gene DOID:0070007 Seckel syndrome 1 susceptibility ISO RGD:1314047 D RGD:9068941 20200806 RGD DNA:point mutation:2101A>G (human) PMID:12640452|REF_RGD_ID:1599404 12011895 ATR ATR serine/threonine kinase gene DOID:0080202 adenoid cystic carcinoma treatment ISO RGD:1314047 D RGD:9068941 20210827 RGD PMID:32001675|REF_RGD_ID:150340693 12011895 ATR ATR serine/threonine kinase gene DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ISO RGD:1314047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ATR-X-related syndrome PMID:25741868|PMID:28492532 12011895 ATR ATR serine/threonine kinase gene DOID:10316 pneumoconiosis ISO RGD:1314047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 12011895 ATR ATR serine/threonine kinase gene DOID:10652 Alzheimer's disease ISO RGD:1314047 D RGD:9068941 20200609 RGD PMID:23861893|REF_RGD_ID:10047419 12011895 ATR ATR serine/threonine kinase gene DOID:10907 microcephaly ISO RGD:1314047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12011895 ATR ATR serine/threonine kinase gene DOID:1324 lung cancer treatment ISO RGD:1314047 D RGD:9068941 20210827 RGD PMID:25010037|REF_RGD_ID:150340694 12011895 ATR ATR serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1314047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:28492532 12011895 ATR ATR serine/threonine kinase gene DOID:1793 pancreatic cancer ISO RGD:1314047 D RGD:9068941 20200609 RGD DNA:SNP: :340C>T (human) PMID:18381943|REF_RGD_ID:2317234 12011895 ATR ATR serine/threonine kinase gene DOID:219 colon cancer disease_progression ISO RGD:1314047 D RGD:9068941 20210827 RGD DNA:mutations: : PMID:17879369|REF_RGD_ID:150340676 12011895 ATR ATR serine/threonine kinase gene DOID:630 genetic disease ISO RGD:1314047 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10691732|PMID:11721054|PMID:12640452|PMID:15987455|PMID:16199547|PMID:18414213|PMID:21228398|PMID:23144622|PMID:25741868|PMID:26193622|PMID:28492532 12011895 ATR ATR serine/threonine kinase gene DOID:9001916 Fetal Death ISO RGD:733730 D RGD:9068941 20210827 RGD PMID:15282542|REF_RGD_ID:150340675 12011895 ATR ATR serine/threonine kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25415046 12011895 ATR ATR serine/threonine kinase gene DOID:9002856 Cutaneous Telangiectasia and Cancer Syndrome, Familial ISO RGD:1314047 D RGD:7240710 20180130 OMIM 12011895 ATR ATR serine/threonine kinase gene DOID:9002856 Cutaneous Telangiectasia and Cancer Syndrome, Familial ISO RGD:1314047 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cutaneous telangiectasia and cancer syndrome, familial PMID:15987455|PMID:17010193|PMID:17576681|PMID:18414213|PMID:22341969|PMID:24033266|PMID:25741868|PMID:26845104|PMID:28492532|PMID:30262796|PMID:30995915|PMID:33057211|PMID:34008015|PMID:9536098 12011895 ATR ATR serine/threonine kinase gene DOID:9004643 Urologic Neoplasms ISO RGD:1314047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23618899 12011895 ATR ATR serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15987455|PMID:18414213|PMID:25741868|PMID:26845104|PMID:28492532 12011895 ATR ATR serine/threonine kinase gene DOID:9007715 Endometrial Neoplasms ISO RGD:1314047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial neoplasm PMID:19470935|PMID:21228398|PMID:23144622|PMID:28492532 12011895 ATR ATR serine/threonine kinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1314047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532 12011895 ATR ATR serine/threonine kinase gene DOID:9261 nasopharynx carcinoma treatment ISO RGD:1314047 D RGD:9068941 20210827 RGD PMID:28820634|REF_RGD_ID:150340692 12011946 HVCN1 hydrogen voltage gated channel 1 gene DOID:0080600 COVID-19 ISO RGD:1603943 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12011946 HVCN1 hydrogen voltage gated channel 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:1310788 D RGD:9068941 20200609 RGD PMID:31250553|REF_RGD_ID:14985213 12011946 HVCN1 hydrogen voltage gated channel 1 gene DOID:630 genetic disease ISO RGD:1603943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12011978 TOM1L1 target of myb1 like 1 membrane trafficking protein gene DOID:630 genetic disease ISO RGD:1351961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12011978 TOM1L1 target of myb1 like 1 membrane trafficking protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12012009 ZNF709 zinc finger protein 709 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1605565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12012009 ZNF709 zinc finger protein 709 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1605565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12012009 ZNF709 zinc finger protein 709 gene DOID:0111254 glutaric acidemia I ISO RGD:1605565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12012009 ZNF709 zinc finger protein 709 gene DOID:3413 alpha-mannosidosis ISO RGD:1605565 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12012009 ZNF709 zinc finger protein 709 gene DOID:630 genetic disease ISO RGD:1605565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12012017 RPL27A ribosomal protein L27a gene DOID:0050753 cerebellar ataxia ISO RGD:1320286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21674502 12012017 RPL27A ribosomal protein L27a gene DOID:12450 pancytopenia ISO RGD:1320286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21674502 12012017 RPL27A ribosomal protein L27a gene DOID:3910 lung adenocarcinoma ISO RGD:1320286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12012017 RPL27A ribosomal protein L27a gene DOID:630 genetic disease ISO RGD:1320286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12012017 RPL27A ribosomal protein L27a gene DOID:9003984 Hyperpigmentation ISO RGD:1320286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21674502 12012017 RPL27A ribosomal protein L27a gene DOID:9006205 Animal Disease Models ISO RGD:1320286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12012026 GTF3C5 general transcription factor IIIC subunit 5 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1313045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12012026 GTF3C5 general transcription factor IIIC subunit 5 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1313045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12012026 GTF3C5 general transcription factor IIIC subunit 5 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1313045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12012026 GTF3C5 general transcription factor IIIC subunit 5 gene DOID:0081097 Rafiq syndrome ISO RGD:1313045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12012026 GTF3C5 general transcription factor IIIC subunit 5 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1313045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12012026 GTF3C5 general transcription factor IIIC subunit 5 gene DOID:3652 Leigh disease ISO RGD:1313045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12012026 GTF3C5 general transcription factor IIIC subunit 5 gene DOID:630 genetic disease ISO RGD:1313045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12012052 SLC16A9 solute carrier family 16 member 9 gene DOID:630 genetic disease ISO RGD:1347871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12012081 ZNF404 zinc finger protein 404 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1346088 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12012081 ZNF404 zinc finger protein 404 gene DOID:5419 schizophrenia ISO RGD:1346088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12012081 ZNF404 zinc finger protein 404 gene DOID:630 genetic disease ISO RGD:1346088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12012081 ZNF404 zinc finger protein 404 gene DOID:9008939 Breast Neoplasms ISO RGD:1346088 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 12012090 SLC39A8 solute carrier family 39 member 8 gene DOID:0060480 left ventricular noncompaction ISO RGD:1317895 D RGD:9068941 20220825 MouseDO OMIM:604169 12012090 SLC39A8 solute carrier family 39 member 8 gene DOID:0070266 congenital disorder of glycosylation type IIn ISO RGD:1317894 D RGD:7240710 20180130 OMIM 12012090 SLC39A8 solute carrier family 39 member 8 gene DOID:0070266 congenital disorder of glycosylation type IIn ISO RGD:1317894 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: SLC39A8-CDG PMID:23806086|PMID:24088041|PMID:25687216|PMID:25741868|PMID:26637978|PMID:26637979|PMID:2809732|PMID:28492532|PMID:29453449|PMID:32313153|PMID:34768831 12012090 SLC39A8 solute carrier family 39 member 8 gene DOID:3633 beta-mannosidosis ISO RGD:1317894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 12012090 SLC39A8 solute carrier family 39 member 8 gene DOID:630 genetic disease ISO RGD:1317894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12012090 SLC39A8 solute carrier family 39 member 8 gene DOID:9000304 Manganese Poisoning ISO RGD:1317894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29429640 12012090 SLC39A8 solute carrier family 39 member 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12012113 ZNHIT6 zinc finger HIT-type containing 6 gene DOID:630 genetic disease ISO RGD:1607024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12012127 WDR11 WD repeat domain 11 gene DOID:0050834 CHARGE syndrome ISO RGD:1318273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:25741868|PMID:30711679 12012127 WDR11 WD repeat domain 11 gene DOID:0060340 ciliopathy ISO RGD:1618197 D RGD:9068941 20220825 MouseDO 12012127 WDR11 WD repeat domain 11 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1318273 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:20887964|PMID:25741868|PMID:28492532 12012127 WDR11 WD repeat domain 11 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1318273 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25741868|PMID:28492532 12012127 WDR11 WD repeat domain 11 gene DOID:0090087 hypogonadotropic hypogonadism 14 with or without anosmia ISO RGD:1318273 D RGD:7240710 20180130 OMIM 12012127 WDR11 WD repeat domain 11 gene DOID:0090087 hypogonadotropic hypogonadism 14 with or without anosmia ISO RGD:1318273 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 14 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 14 with or without anosmia PMID:20887964|PMID:25741868|PMID:28492532|PMID:29263200 12012127 WDR11 WD repeat domain 11 gene DOID:10907 microcephaly ISO RGD:1318273 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:34413497 12012127 WDR11 WD repeat domain 11 gene DOID:13938 amenorrhea ISO RGD:1318273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 12012127 WDR11 WD repeat domain 11 gene DOID:1921 Klinefelter syndrome ISO RGD:1318273 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:20887964|PMID:25741868|PMID:28492532 12012127 WDR11 WD repeat domain 11 gene DOID:303 substance-related disorder ISO RGD:1318273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12012127 WDR11 WD repeat domain 11 gene DOID:3614 Kallmann syndrome ISO RGD:1618197 D RGD:9068941 20220825 MouseDO 12012127 WDR11 WD repeat domain 11 gene DOID:5419 schizophrenia ISO RGD:1318273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12012127 WDR11 WD repeat domain 11 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12012127 WDR11 WD repeat domain 11 gene DOID:630 genetic disease ISO RGD:1318273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12012127 WDR11 WD repeat domain 11 gene DOID:9002963 Autosomal Recessive Intellectual Developmental Disorder 78 ISO RGD:1318273 D RGD:7240710 20230215 OMIM 12012127 WDR11 WD repeat domain 11 gene DOID:9002963 Autosomal Recessive Intellectual Developmental Disorder 78 ISO RGD:1318273 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 78 PMID:25741868|PMID:34413497 12012166 SARAF store-operated calcium entry associated regulatory factor gene DOID:630 genetic disease ISO RGD:1604621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12012183 KIF19 kinesin family member 19 gene DOID:630 genetic disease ISO RGD:1603919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12012183 KIF19 kinesin family member 19 gene DOID:9008386 Hydrops Fetalis ISO RGD:1603919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 12012206 PPRC1 PPARG related coactivator 1 gene DOID:10283 prostate cancer ISO RGD:1320168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12012206 PPRC1 PPARG related coactivator 1 gene DOID:630 genetic disease ISO RGD:1320168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12012241 PDCD1LG2 programmed cell death 1 ligand 2 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1314998 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12012241 PDCD1LG2 programmed cell death 1 ligand 2 gene DOID:1731 histoplasmosis ISO RGD:1552436 D RGD:9068941 20201203 RGD protein:increased expression:macrophage, dendritic cell PMID:18268348|REF_RGD_ID:40822806 12012241 PDCD1LG2 programmed cell death 1 ligand 2 gene DOID:2048 autoimmune hepatitis ISO RGD:1552436 D RGD:9068941 20210219 RGD PMID:19781375|REF_RGD_ID:41412171 12012241 PDCD1LG2 programmed cell death 1 ligand 2 gene DOID:2957 pulmonary tuberculosis ISO RGD:1314998 D RGD:9068941 20201127 RGD protein:increased expression:Tcell, B cell, monocyte PMID:23661793|REF_RGD_ID:40818418 12012241 PDCD1LG2 programmed cell death 1 ligand 2 gene DOID:630 genetic disease ISO RGD:1314998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12012241 PDCD1LG2 programmed cell death 1 ligand 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1306403 D RGD:9068941 20201203 RGD mRNA:increased expression:microglial cell PMID:29665726|REF_RGD_ID:40886268 12012241 PDCD1LG2 programmed cell death 1 ligand 2 gene DOID:9000220 Coxsackievirus Infections treatment ISO RGD:1552436 D RGD:9068941 20201203 RGD PMID:30904424|REF_RGD_ID:40818421 12012241 PDCD1LG2 programmed cell death 1 ligand 2 gene DOID:9004484 Sepsis ISO RGD:1314998 D RGD:9068941 20201127 RGD protein:increased expression:CD27B cell PMID:29661225|REF_RGD_ID:40818424 12012241 PDCD1LG2 programmed cell death 1 ligand 2 gene DOID:9111 cutaneous leishmaniasis ISO RGD:1552436 D RGD:9068941 20210219 RGD PMID:16358363|REF_RGD_ID:41410801 12012252 NRAP nebulin related anchoring protein gene DOID:0050700 cardiomyopathy ISO RGD:1315517 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:33534821 12012252 NRAP nebulin related anchoring protein gene DOID:12930 dilated cardiomyopathy ISO RGD:1315517 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 12012252 NRAP nebulin related anchoring protein gene DOID:630 genetic disease ISO RGD:1315517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12012252 NRAP nebulin related anchoring protein gene DOID:9005359 Hereditary Thrombophilia ISO RGD:1315517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor VII Marburg I Variant Thrombophilia 12012252 NRAP nebulin related anchoring protein gene DOID:9007820 Sudden Death ISO RGD:1315517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death 12012299 RPAP1 RNA polymerase II associated protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1342806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12012299 RPAP1 RNA polymerase II associated protein 1 gene DOID:630 genetic disease ISO RGD:1342806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12012299 RPAP1 RNA polymerase II associated protein 1 gene DOID:9256 colorectal cancer ISO RGD:1342806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12012336 LRP4 LDL receptor related protein 4 gene DOID:0060251 sclerosteosis ISO RGD:731744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12012336 LRP4 LDL receptor related protein 4 gene DOID:0060757 sclerosteosis 2 ISO RGD:731744 D RGD:7240710 20180130 OMIM 12012336 LRP4 LDL receptor related protein 4 gene DOID:0060757 sclerosteosis 2 ISO RGD:731744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sclerosteosis 2 PMID:11385236|PMID:21471202|PMID:24234652|PMID:25741868|PMID:28492532|PMID:7891385 12012336 LRP4 LDL receptor related protein 4 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:731744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12012336 LRP4 LDL receptor related protein 4 gene DOID:0090015 Cenani-Lenz syndactyly syndrome ISO RGD:731744 D RGD:7240710 20180130 OMIM 12012336 LRP4 LDL receptor related protein 4 gene DOID:0090015 Cenani-Lenz syndactyly syndrome ISO RGD:731744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome | ClinVar Annotator: match by term: Syndactyly type 7 PMID:10756427|PMID:11260233|PMID:12868467|PMID:14577675|PMID:16199547|PMID:17576681|PMID:18978656|PMID:20381006|PMID:21471202|PMID:23636941|PMID:24234652|PMID:24924585|PMID:25119311|PMID:25741868|PMID:26751728|PMID:28492532|PMID:28559208|PMID:7891385|PMID:9182770|PMID:9536098 12012336 LRP4 LDL receptor related protein 4 gene DOID:0110674 congenital myasthenic syndrome 17 ISO RGD:731744 D RGD:7240710 20180130 OMIM 12012336 LRP4 LDL receptor related protein 4 gene DOID:0110674 congenital myasthenic syndrome 17 ISO RGD:731744 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 17 PMID:24234652|PMID:25741868|PMID:28492532 12012336 LRP4 LDL receptor related protein 4 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:731744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 12012336 LRP4 LDL receptor related protein 4 gene DOID:1059 intellectual disability ISO RGD:731744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12012336 LRP4 LDL receptor related protein 4 gene DOID:11193 syndactyly ISO RGD:731744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16207730 12012336 LRP4 LDL receptor related protein 4 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731744 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12012336 LRP4 LDL receptor related protein 4 gene DOID:3635 congenital myasthenic syndrome ISO RGD:731744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12012336 LRP4 LDL receptor related protein 4 gene DOID:630 genetic disease ISO RGD:731744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12012336 LRP4 LDL receptor related protein 4 gene DOID:9009007 Tooth Abnormalities ISO RGD:731744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16207730 12012377 MFRP membrane frizzled-related protein gene DOID:0060017 CD3epsilon deficiency ISO RGD:1316695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12012377 MFRP membrane frizzled-related protein gene DOID:0060835 isolated microphthalmia 6 ISO RGD:1316695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 6 PMID:19169412|PMID:25741868|PMID:28492532 12012377 MFRP membrane frizzled-related protein gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1316695 D RGD:7240710 20180130 OMIM 12012377 MFRP membrane frizzled-related protein gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1316695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen PMID:12140190|PMID:1258954|PMID:15976030|PMID:16199547|PMID:17167404|PMID:17576681|PMID:18554571|PMID:18648522|PMID:19169412|PMID:19753314|PMID:20361016|PMID:21670352|PMID:22142163|PMID:22605927|PMID:22892318|PMID:23112574|PMID:23127749|PMID:23143909|PMID:23742260|PMID:24088041|PMID:24531000|PMID:25097241|PMID:25412400|PMID:25741868|PMID:26583794|PMID:26633545|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29170418|PMID:29450879|PMID:30181649|PMID:30653986|PMID:31106028|PMID:31992737|PMID:32052405|PMID:32118495|PMID:32830442|PMID:32996714|PMID:33203948|PMID:9536098 12012377 MFRP membrane frizzled-related protein gene DOID:0060869 late-onset retinal degeneration ISO RGD:1316695 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Late-onset retinal degeneration | ClinVar Annotator: match by term: RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT PMID:12140190|PMID:12944416|PMID:15976030|PMID:16199547|PMID:18648522|PMID:19169412|PMID:20361016|PMID:22142163|PMID:22892318|PMID:23289492|PMID:24531000|PMID:25097241|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28939808|PMID:29847639|PMID:33203948|PMID:33949280 12012377 MFRP membrane frizzled-related protein gene DOID:0080634 nanophthalmos ISO RGD:1316695 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nanophthalmia PMID:25412400|PMID:25741868|PMID:26583794|PMID:28492532|PMID:29170418|PMID:30181649 12012377 MFRP membrane frizzled-related protein gene DOID:0080690 RASopathy ISO RGD:1316695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12012377 MFRP membrane frizzled-related protein gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1316695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12012377 MFRP membrane frizzled-related protein gene DOID:0111971 immunodeficiency 18 ISO RGD:1316695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12012377 MFRP membrane frizzled-related protein gene DOID:0111972 immunodeficiency 19 ISO RGD:1316695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12012377 MFRP membrane frizzled-related protein gene DOID:0111973 immunodeficiency 17 ISO RGD:1316695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12012377 MFRP membrane frizzled-related protein gene DOID:10584 retinitis pigmentosa ISO RGD:1316695 D RGD:9068941 20200609 RGD DNA:deletio:exon:c.498delC(P.166PfsX26)(human) PMID:22605927|REF_RGD_ID:11553921 12012377 MFRP membrane frizzled-related protein gene DOID:10629 microphthalmia ISO RGD:1316695 D RGD:9068941 20200609 RGD DNA:nonsense mutations:exons:c.271C>T,c.498dupC(human) PMID:23742260|REF_RGD_ID:11553922 12012377 MFRP membrane frizzled-related protein gene DOID:11105 fundus albipunctatus ISO RGD:1620492 D RGD:9068941 20220825 MouseDO OMIM:136880 12012377 MFRP membrane frizzled-related protein gene DOID:5419 schizophrenia ISO RGD:1316695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12012377 MFRP membrane frizzled-related protein gene DOID:630 genetic disease ISO RGD:1316695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12012377 MFRP membrane frizzled-related protein gene DOID:8466 retinal degeneration ISO RGD:1316695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:18648522|PMID:19169412|PMID:22892318|PMID:24531000|PMID:25741868|PMID:28492532 12012377 MFRP membrane frizzled-related protein gene DOID:8466 retinal degeneration treatment ISO RGD:1620492 D RGD:9068941 20200609 RGD PMID:22142163|REF_RGD_ID:11553878 12012377 MFRP membrane frizzled-related protein gene DOID:8501 fundus dystrophy ISO RGD:1316695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12140190|PMID:12944416|PMID:15976030|PMID:16199547|PMID:20361016|PMID:22142163|PMID:23289492|PMID:24531000|PMID:25097241|PMID:25326637|PMID:25741868|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28939808|PMID:29847639|PMID:31992737|PMID:32036094 12012377 MFRP membrane frizzled-related protein gene DOID:9002122 Nanophthalmos 2 ISO RGD:1316695 D RGD:7240710 20180130 OMIM 12012377 MFRP membrane frizzled-related protein gene DOID:9002122 Nanophthalmos 2 ISO RGD:1316695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nanophthalmos 2 PMID:12140190|PMID:1258954|PMID:15976030|PMID:17167404|PMID:18554571|PMID:19753314|PMID:20361016|PMID:22605927|PMID:23112574|PMID:23143909|PMID:28492532|PMID:32996714 12012377 MFRP membrane frizzled-related protein gene DOID:9002594 High Hyperopia ISO RGD:1316695 D RGD:9068941 20200609 RGD DNA:missense, deletion, duplication mutations:cds: PMID:26583794|REF_RGD_ID:11076374 12012377 MFRP membrane frizzled-related protein gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1316695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12012377 MFRP membrane frizzled-related protein gene DOID:9007661 Dwarfism ISO RGD:1316695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12012400 WDR1 WD repeat domain 1 gene DOID:0060224 atrial fibrillation ISO RGD:1314033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12012400 WDR1 WD repeat domain 1 gene DOID:11476 osteoporosis ISO RGD:1314033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12012400 WDR1 WD repeat domain 1 gene DOID:1588 thrombocytopenia ISO RGD:1314033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17515402 12012400 WDR1 WD repeat domain 1 gene DOID:630 genetic disease ISO RGD:1314033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12012400 WDR1 WD repeat domain 1 gene DOID:9005372 Inflammation ISO RGD:1314033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17515402 12012400 WDR1 WD repeat domain 1 gene DOID:9005864 Autosomal Dominant Intellectual Developmental Disorder 61 ISO RGD:1314033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder 61 PMID:29740699 12012400 WDR1 WD repeat domain 1 gene DOID:9005933 Lazy Leukocyte Syndrome ISO RGD:1314033 D RGD:7240710 20200812 OMIM 12012400 WDR1 WD repeat domain 1 gene DOID:9005933 Lazy Leukocyte Syndrome ISO RGD:1314033 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lazy leukocyte syndrome | ClinVar Annotator: match by term: WDR1 deficiency PMID:205284|PMID:25741868|PMID:27557945|PMID:27994071|PMID:28492532|PMID:29751004 12012420 S100A6 S100 calcium binding protein A6 gene DOID:0050902 medulloblastoma ISO RGD:1354055 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17579622 12012420 S100A6 S100 calcium binding protein A6 gene DOID:0111940 immunodeficiency 42 ISO RGD:1354055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12012420 S100A6 S100 calcium binding protein A6 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1354055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12012420 S100A6 S100 calcium binding protein A6 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1354055 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12012420 S100A6 S100 calcium binding protein A6 gene DOID:13100 intracranial vasospasm ISO RGD:1354055 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12186470 12012420 S100A6 S100 calcium binding protein A6 gene DOID:1540 parathyroid carcinoma ISO RGD:1354055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12012420 S100A6 S100 calcium binding protein A6 gene DOID:305 carcinoma ISO RGD:1354055 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12012420 S100A6 S100 calcium binding protein A6 gene DOID:5812 MHC class II deficiency ISO RGD:1354055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12012420 S100A6 S100 calcium binding protein A6 gene DOID:630 genetic disease ISO RGD:1354055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12012420 S100A6 S100 calcium binding protein A6 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1354055 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12012420 S100A6 S100 calcium binding protein A6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1354055 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12012420 S100A6 S100 calcium binding protein A6 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1354055 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12012420 S100A6 S100 calcium binding protein A6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1354055 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12012420 S100A6 S100 calcium binding protein A6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12012420 S100A6 S100 calcium binding protein A6 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1354055 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12012434 CASKIN2 CASK interacting protein 2 gene DOID:630 genetic disease ISO RGD:1320238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:0050851 glomerulosclerosis ISO RGD:10126 D RGD:9068941 20200609 RGD PMID:20631980|REF_RGD_ID:6903882 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:0050851 glomerulosclerosis ISO RGD:2072 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:20042458|REF_RGD_ID:6903284 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:0050851 glomerulosclerosis ISO RGD:2072 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:12495295|REF_RGD_ID:6903859 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:0050938 breast lobular carcinoma ISO RGD:619558 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:8389152 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:619558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:0112053 non-syndromic X-linked intellectual disability 88 ISO RGD:619558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MRX88 PMID:12089445|PMID:12746399|PMID:14598163|PMID:14722754|PMID:16283672|PMID:18414213|PMID:23871722 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:1059 intellectual disability ISO RGD:619558 D RGD:9068941 20200609 RGD PMID:12089445|REF_RGD_ID:1300276 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:10763 hypertension ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:19680135|REF_RGD_ID:6903372 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:10763 hypertension ISO RGD:2072 D RGD:9068941 20200609 RGD associated with Sleep Apnea Syndromes PMID:21040717|REF_RGD_ID:5129169 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:10763 hypertension ISO RGD:2072 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:11924718|REF_RGD_ID:6903865 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:10763 hypertension ISO RGD:619558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15710752 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:11049 meconium aspiration syndrome treatment ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:14605247|REF_RGD_ID:11039054 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:12849 autistic disorder ISO RGD:619558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:2072 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:22120037|REF_RGD_ID:8549486 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:619558 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart left ventricle PMID:9815151|REF_RGD_ID:6903900 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:2072 D RGD:9068941 20200609 RGD protein:increased expression:kidney cortex PMID:21357516|REF_RGD_ID:5129175 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:1591 renovascular hypertension ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:18158356|PMID:21189405|REF_RGD_ID:6903867|REF_RGD_ID:6903868 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:1793 pancreatic cancer ISO RGD:619558 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:11916627|REF_RGD_ID:2325641 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:2841 asthma ISO RGD:2072 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:19080339|REF_RGD_ID:5147457 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:2921 glomerulonephritis ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:19139720|REF_RGD_ID:6903845 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:2986 IgA glomerulonephritis ISO RGD:619558 D RGD:9068941 20200609 RGD protein:increased expression:kidney tubule PMID:15930094|REF_RGD_ID:6903851 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:619558 D RGD:9068941 20200609 RGD DNA:polymorphism: :1818A>T (human) PMID:19194560|REF_RGD_ID:6903844 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:3770 pulmonary fibrosis ISO RGD:10126 D RGD:9068941 20200609 RGD PMID:18500976|REF_RGD_ID:5147454 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:22113494|REF_RGD_ID:6903875 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:619558 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:21102591|REF_RGD_ID:6903280 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:5119 ovarian cyst ISO RGD:619558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:6000 congestive heart failure ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:18768398|REF_RGD_ID:6903846 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:6000 congestive heart failure ISO RGD:2072 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart PMID:21963897|REF_RGD_ID:8549482 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:630 genetic disease ISO RGD:619558 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12089445|PMID:12746399|PMID:14598163|PMID:14722754|PMID:16283672|PMID:18414213|PMID:23871722|PMID:28492532 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:783 end stage renal disease ISO RGD:10126 D RGD:9068941 20200609 RGD PMID:19212419|REF_RGD_ID:6903843 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:783 end stage renal disease ISO RGD:619558 D RGD:9068941 20200609 RGD associated with Vesico-Ureteral Reflux;DNA:SNP: :-1332A>G (human) PMID:20149750|REF_RGD_ID:6903283 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:784 chronic kidney disease ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:12089373|REF_RGD_ID:6903863 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:619558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18059164 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:9000352 Vascular System Injuries ISO RGD:619558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16982965 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:9000784 Fibrosis ISO RGD:10126 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:18327089|REF_RGD_ID:6903848 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:9000784 Fibrosis ISO RGD:2072 D RGD:9068941 20200609 RGD associated with Hypertension PMID:22184331|REF_RGD_ID:6903874 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:14982483|REF_RGD_ID:6903857 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:619558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18059164 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:9001611 Urogenital Abnormalities ISO RGD:619558 D RGD:9068941 20200609 RGD DNA:transition:intron PMID:16133060|REF_RGD_ID:6903850 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:9001611 Urogenital Abnormalities ISO RGD:619558 D RGD:9068941 20200609 RGD DNA:transition:intron:-1332A>G (human) PMID:15470205|REF_RGD_ID:6903853 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2072 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:kidney PMID:18565281|REF_RGD_ID:6903847 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:21303825|REF_RGD_ID:5129179 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:22569153|REF_RGD_ID:6903872 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:9004009 Reperfusion Injury ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:22920387|REF_RGD_ID:6903870 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:619558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20467270 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:619558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8389152 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:9005372 Inflammation ISO RGD:10126 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:15153562|REF_RGD_ID:6903855 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2072 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:12172324|REF_RGD_ID:6903861 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:619558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12089445 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:9005930 Endotoxemia ISO RGD:2072 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:16725227|REF_RGD_ID:6903849 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:619558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15587404|PMID:16025228 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:9007096 Stroke ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:19246705|REF_RGD_ID:6903905 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:9007692 Insulin Resistance ISO RGD:2072 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion, neuron PMID:22357959|REF_RGD_ID:6903873 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:9008782 AIDS-Associated Nephropathy ISO RGD:10126 D RGD:9068941 20200609 RGD PMID:2|REF_RGD_ID:1303381 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:10126 D RGD:9068941 20200609 RGD PMID:21900645|REF_RGD_ID:6892717 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2072 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta PMID:18463192|REF_RGD_ID:2313550 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:9620 vesicoureteral reflux ISO RGD:619558 D RGD:9068941 20200609 RGD PMID:11819209|REF_RGD_ID:6903866 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:9620 vesicoureteral reflux ISO RGD:619558 D RGD:9068941 20200609 RGD DNA:transition:intron:-1332A>G (human) PMID:15470205|REF_RGD_ID:6903853 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:9620 vesicoureteral reflux no_association ISO RGD:619558 D RGD:9068941 20200609 RGD DNA:transition:intron:-1332A>G (human) PMID:12187255|REF_RGD_ID:6903860 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:9970 obesity ISO RGD:10126 D RGD:9068941 20200609 RGD PMID:15793237|REF_RGD_ID:2313554 12012458 AGTR2 angiotensin II receptor type 2 gene DOID:9993 hypoglycemia ISO RGD:619558 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism: :1675G>A (human) PMID:18328310|REF_RGD_ID:2313551 12012465 EXOG exo/endonuclease G gene DOID:0050451 Brugada syndrome ISO RGD:1312174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 12012465 EXOG exo/endonuclease G gene DOID:630 genetic disease ISO RGD:1312174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12012465 EXOG exo/endonuclease G gene DOID:9001436 Immunodeficiency 68 ISO RGD:1312174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY PMID:28492532 12012465 EXOG exo/endonuclease G gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1312174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 12012485 PDZD2 PDZ domain containing 2 gene DOID:630 genetic disease ISO RGD:735643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12012485 PDZD2 PDZ domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12012485 PDZD2 PDZ domain containing 2 gene DOID:9008086 Developmental Disabilities ISO RGD:735643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12012514 OPN1SW opsin 1, short wave sensitive gene DOID:0060224 atrial fibrillation ISO RGD:736424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12012514 OPN1SW opsin 1, short wave sensitive gene DOID:11661 blue color blindness ISO RGD:736424 D RGD:7240710 20180130 OMIM 12012514 OPN1SW opsin 1, short wave sensitive gene DOID:11661 blue color blindness ISO RGD:736424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Blue color blindness PMID:1386496|PMID:1531728|PMID:25741868|PMID:28492532|PMID:2937147 12012514 OPN1SW opsin 1, short wave sensitive gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12012514 OPN1SW opsin 1, short wave sensitive gene DOID:630 genetic disease ISO RGD:736424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12012522 OSBPL11 oxysterol binding protein like 11 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1316402 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12012522 OSBPL11 oxysterol binding protein like 11 gene DOID:630 genetic disease ISO RGD:1316402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12012522 OSBPL11 oxysterol binding protein like 11 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1316402 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 12012522 OSBPL11 oxysterol binding protein like 11 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1316402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 12012522 OSBPL11 oxysterol binding protein like 11 gene DOID:9270 alkaptonuria ISO RGD:1316402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12012552 CHRND cholinergic receptor nicotinic delta subunit gene DOID:0060476 Perlman syndrome ISO RGD:733359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12012552 CHRND cholinergic receptor nicotinic delta subunit gene DOID:0060835 isolated microphthalmia 6 ISO RGD:733359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 6 PMID:19526372|PMID:21532570|PMID:24033266|PMID:28492532 12012552 CHRND cholinergic receptor nicotinic delta subunit gene DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B ISO RGD:733359 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome PMID:25741868 12012552 CHRND cholinergic receptor nicotinic delta subunit gene DOID:0110664 congenital myasthenic syndrome 3C ISO RGD:733359 D RGD:7240710 20180130 OMIM 12012552 CHRND cholinergic receptor nicotinic delta subunit gene DOID:0110664 congenital myasthenic syndrome 3C ISO RGD:733359 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 3C PMID:11435464|PMID:16199547|PMID:16916845|PMID:23108489|PMID:25264167|PMID:25741868|PMID:28492532|PMID:32070632 12012552 CHRND cholinergic receptor nicotinic delta subunit gene DOID:0110665 congenital myasthenic syndrome 3B ISO RGD:733359 D RGD:7240710 20180214 OMIM 12012552 CHRND cholinergic receptor nicotinic delta subunit gene DOID:0110665 congenital myasthenic syndrome 3B ISO RGD:733359 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 3B PMID:11435464|PMID:12499478|PMID:16199547|PMID:16916845|PMID:18252226|PMID:18398509|PMID:25264167|PMID:25741868|PMID:28492532 12012552 CHRND cholinergic receptor nicotinic delta subunit gene DOID:0110666 congenital myasthenic syndrome 3A ISO RGD:733359 D RGD:7240710 20181024 OMIM 12012552 CHRND cholinergic receptor nicotinic delta subunit gene DOID:0110666 congenital myasthenic syndrome 3A ISO RGD:733359 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 3A PMID:11782989|PMID:25264167|PMID:25741868|PMID:28492532|PMID:32528171 12012552 CHRND cholinergic receptor nicotinic delta subunit gene DOID:0110991 Joubert syndrome 22 ISO RGD:733359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12012552 CHRND cholinergic receptor nicotinic delta subunit gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:733359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 12012552 CHRND cholinergic receptor nicotinic delta subunit gene DOID:3635 congenital myasthenic syndrome ISO RGD:733359 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31560172|PMID:32528171|PMID:8872460 12012552 CHRND cholinergic receptor nicotinic delta subunit gene DOID:630 genetic disease ISO RGD:733359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12012552 CHRND cholinergic receptor nicotinic delta subunit gene DOID:9005246 Paralysis ISO RGD:733359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18694773 12012552 CHRND cholinergic receptor nicotinic delta subunit gene DOID:9005532 Muscle Weakness ISO RGD:733359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868 12012552 CHRND cholinergic receptor nicotinic delta subunit gene DOID:9005962 Multiple Pterygium Syndrome, Lethal Type ISO RGD:733359 D RGD:7240710 20180130 OMIM 12012552 CHRND cholinergic receptor nicotinic delta subunit gene DOID:9005962 Multiple Pterygium Syndrome, Lethal Type ISO RGD:733359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:11435464|PMID:11782989|PMID:16199547|PMID:16916845|PMID:17576681|PMID:18252226|PMID:18414213|PMID:19526372|PMID:21532570|PMID:23108489|PMID:24033266|PMID:25264167|PMID:25741868|PMID:26467025|PMID:26578207|PMID:28024842|PMID:28492532|PMID:29382405|PMID:29390429|PMID:30467950|PMID:31560172|PMID:32070632|PMID:32360402|PMID:32528171|PMID:8872460|PMID:9536098 12012552 CHRND cholinergic receptor nicotinic delta subunit gene DOID:9006988 Congenital Myasthenic Syndrome, Fast-Channel ISO RGD:733359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12012552 CHRND cholinergic receptor nicotinic delta subunit gene DOID:9008585 Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency ISO RGD:733359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12012586 KATNBL1 katanin regulatory subunit B1 like 1 gene DOID:2717 Bloom syndrome ISO RGD:1314664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12012586 KATNBL1 katanin regulatory subunit B1 like 1 gene DOID:630 genetic disease ISO RGD:1314664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12012586 KATNBL1 katanin regulatory subunit B1 like 1 gene DOID:9256 colorectal cancer ISO RGD:1314664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12012611 NR3C2 nuclear receptor subfamily 3 group C member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:733363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30763456|PMID:9662404 12012611 NR3C2 nuclear receptor subfamily 3 group C member 2 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:733363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 12012611 NR3C2 nuclear receptor subfamily 3 group C member 2 gene DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 ISO RGD:733363 D RGD:7240710 20180307 OMIM 12012611 NR3C2 nuclear receptor subfamily 3 group C member 2 gene DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 ISO RGD:733363 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant PMID:11134129|PMID:11344206|PMID:12483305|PMID:12679457|PMID:12788847|PMID:14715854|PMID:15126534|PMID:16611713|PMID:16757525|PMID:16954160|PMID:19571553|PMID:20030467|PMID:22463955|PMID:24033266|PMID:24088041|PMID:25251996|PMID:25741868|PMID:27780983|PMID:28492532|PMID:28804203|PMID:30763456|PMID:31690835|PMID:9662404 12012611 NR3C2 nuclear receptor subfamily 3 group C member 2 gene DOID:12849 autistic disorder ISO RGD:733363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12012611 NR3C2 nuclear receptor subfamily 3 group C member 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:733363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21321305 12012611 NR3C2 nuclear receptor subfamily 3 group C member 2 gene DOID:2661 myoepithelioma ISO RGD:733363 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12012611 NR3C2 nuclear receptor subfamily 3 group C member 2 gene DOID:289 endometriosis ISO RGD:733363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 12012611 NR3C2 nuclear receptor subfamily 3 group C member 2 gene DOID:4479 pseudohypoaldosteronism ISO RGD:733363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudohypoaldosteronism 12012611 NR3C2 nuclear receptor subfamily 3 group C member 2 gene DOID:5844 myocardial infarction ISO RGD:733363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16413583|PMID:17587755 12012611 NR3C2 nuclear receptor subfamily 3 group C member 2 gene DOID:6000 congestive heart failure ISO RGD:733363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15722665|PMID:21321305 12012611 NR3C2 nuclear receptor subfamily 3 group C member 2 gene DOID:630 genetic disease ISO RGD:733363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12012611 NR3C2 nuclear receptor subfamily 3 group C member 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:733363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21321305 12012611 NR3C2 nuclear receptor subfamily 3 group C member 2 gene DOID:9002298 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy ISO RGD:733363 D RGD:7240710 20180130 OMIM 12012611 NR3C2 nuclear receptor subfamily 3 group C member 2 gene DOID:9002298 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy ISO RGD:733363 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy | ClinVar Annotator: match by term: Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy PMID:10884226|PMID:15126534|PMID:16757525|PMID:22463955|PMID:25741868|PMID:28492532 12012624 RPS16 ribosomal protein S16 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:737248 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12012624 RPS16 ribosomal protein S16 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:737248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12012624 RPS16 ribosomal protein S16 gene DOID:1342 congenital hypoplastic anemia ISO RGD:737248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12012624 RPS16 ribosomal protein S16 gene DOID:2340 craniosynostosis ISO RGD:737248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12012624 RPS16 ribosomal protein S16 gene DOID:630 genetic disease ISO RGD:737248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12012624 RPS16 ribosomal protein S16 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:737248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12012624 RPS16 ribosomal protein S16 gene DOID:9269 maple syrup urine disease ISO RGD:737248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12012624 RPS16 ribosomal protein S16 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737248 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12012633 CCDC78 coiled-coil domain containing 78 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1345830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12012633 CCDC78 coiled-coil domain containing 78 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1345830 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12012633 CCDC78 coiled-coil domain containing 78 gene DOID:0111224 centronuclear myopathy 4 ISO RGD:1345830 D RGD:7240710 20180130 OMIM 12012633 CCDC78 coiled-coil domain containing 78 gene DOID:0111224 centronuclear myopathy 4 ISO RGD:1345830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 4 PMID:16199547|PMID:17576681|PMID:18414213|PMID:22818856|PMID:25741868|PMID:26467025|PMID:26633542|PMID:28492532|PMID:9536098 12012633 CCDC78 coiled-coil domain containing 78 gene DOID:1826 epilepsy ISO RGD:1345830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12012633 CCDC78 coiled-coil domain containing 78 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1345830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12012633 CCDC78 coiled-coil domain containing 78 gene DOID:422 congenital structural myopathy ISO RGD:1345830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12012633 CCDC78 coiled-coil domain containing 78 gene DOID:630 genetic disease ISO RGD:1345830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12012657 ITCH itchy E3 ubiquitin protein ligase gene DOID:2843 long QT syndrome ISO RGD:1343086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12012657 ITCH itchy E3 ubiquitin protein ligase gene DOID:630 genetic disease ISO RGD:1343086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12012657 ITCH itchy E3 ubiquitin protein ligase gene DOID:9003687 Multisystem Autoimmune Disease with Facial Dysmorphism ISO RGD:1343086 D RGD:7240710 20180130 OMIM 12012657 ITCH itchy E3 ubiquitin protein ligase gene DOID:9003687 Multisystem Autoimmune Disease with Facial Dysmorphism ISO RGD:1343086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM | ClinVar Annotator: match by term: Autoimmune disease, syndromic multisystem PMID:16199547|PMID:17576681|PMID:20170897|PMID:25741868|PMID:28492532|PMID:31091003|PMID:9536098 12012697 GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:1059 intellectual disability ISO RGD:732651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:28492532 12012697 GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:1825 childhood absence epilepsy ISO RGD:732651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood absence epilepsy PMID:28492532 12012697 GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:1826 epilepsy ISO RGD:732651 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12012697 GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:732651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:16718694|PMID:22190369|PMID:24811917|PMID:28492532 12012697 GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:3525 middle cerebral artery infarction ISO RGD:732651 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25257527 12012697 GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:5419 schizophrenia ISO RGD:732651 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18923069 12012697 GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:630 genetic disease ISO RGD:732651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12012697 GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:9005158 Cushing Syndrome ISO RGD:61861 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1519T>C, abdominal obesity and hypercortisolism PMID:12080446|REF_RGD_ID:1626491 12012697 GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:9970 obesity ISO RGD:61861 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1519T>C, abdominal obesity and hypercortisolism PMID:12080446|REF_RGD_ID:1626491 12012714 SEPHS1 selenophosphate synthetase 1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1322506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12012714 SEPHS1 selenophosphate synthetase 1 gene DOID:630 genetic disease ISO RGD:1322506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12012729 SPC24 SPC24 component of NDC80 kinetochore complex gene DOID:0050990 episodic ataxia type 2 ISO RGD:1604521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12012729 SPC24 SPC24 component of NDC80 kinetochore complex gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1604521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12012729 SPC24 SPC24 component of NDC80 kinetochore complex gene DOID:0111254 glutaric acidemia I ISO RGD:1604521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12012729 SPC24 SPC24 component of NDC80 kinetochore complex gene DOID:3413 alpha-mannosidosis ISO RGD:1604521 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12012729 SPC24 SPC24 component of NDC80 kinetochore complex gene DOID:630 genetic disease ISO RGD:1604521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12012737 IL20RB interleukin 20 receptor subunit beta gene DOID:14115 toxic shock syndrome ISO RGD:1623828 D RGD:9068941 20200609 RGD mRNA:increased expression:multiple PMID:18246602|REF_RGD_ID:5037232 12012737 IL20RB interleukin 20 receptor subunit beta gene DOID:630 genetic disease ISO RGD:1349896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12012737 IL20RB interleukin 20 receptor subunit beta gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1349896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12012748 WNK1 WNK lysine deficient protein kinase 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1343905 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary sensory radicular neuropathy, recessive form | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Neuropathy, congenital sensory PMID:25741868|PMID:26467025|PMID:28492532 12012748 WNK1 WNK lysine deficient protein kinase 1 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1343905 D RGD:7240710 20180130 OMIM 12012748 WNK1 WNK lysine deficient protein kinase 1 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1343905 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ACROOSTEOLYSIS, NEUROGENIC | ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:15060842|PMID:15455397|PMID:15911806|PMID:16199547|PMID:16534117|PMID:16636245|PMID:16946995|PMID:17344846|PMID:17576681|PMID:18521183|PMID:18580052|PMID:19651702|PMID:21089229|PMID:21530900|PMID:21625937|PMID:22302274|PMID:22910560|PMID:22934535|PMID:23149595|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27066579|PMID:27671536|PMID:27765018|PMID:28422281|PMID:28492532|PMID:29701257|PMID:30497409|PMID:31132985|PMID:9536098 12012748 WNK1 WNK lysine deficient protein kinase 1 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1343905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:15060842|PMID:15455397|PMID:15911806|PMID:16199547|PMID:16534117|PMID:16636245|PMID:16946995|PMID:17344846|PMID:17576681|PMID:18521183|PMID:18580052|PMID:19651702|PMID:21089229|PMID:21530900|PMID:21625937|PMID:22073419|PMID:22302274|PMID:22910560|PMID:22934535|PMID:23149595|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27066579|PMID:27671536|PMID:27765018|PMID:28422281|PMID:28492532|PMID:29701257|PMID:30497409|PMID:31132985|PMID:31949730|PMID:9536098 12012748 WNK1 WNK lysine deficient protein kinase 1 gene DOID:0070161 hereditary sensory and autonomic neuropathy type 2 ISO RGD:1343905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type II PMID:28492532 12012748 WNK1 WNK lysine deficient protein kinase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1343905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:15911806|PMID:16534117|PMID:16636245|PMID:18521183 12012748 WNK1 WNK lysine deficient protein kinase 1 gene DOID:10763 hypertension ISO RGD:1343905 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22949526 12012748 WNK1 WNK lysine deficient protein kinase 1 gene DOID:10763 hypertension ISO RGD:1343905 D RGD:9068941 20200609 RGD PMID:16301342|REF_RGD_ID:1580829 12012748 WNK1 WNK lysine deficient protein kinase 1 gene DOID:224 transient cerebral ischemia ISO RGD:621141 D RGD:9068941 20200609 RGD PMID:27798271|REF_RGD_ID:14398833 12012748 WNK1 WNK lysine deficient protein kinase 1 gene DOID:327 syringomyelia ISO RGD:1343905 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Morvan disease PMID:28492532 12012748 WNK1 WNK lysine deficient protein kinase 1 gene DOID:4479 pseudohypoaldosteronism ISO RGD:1343905 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperpotassemia and hypertension familial PMID:25741868|PMID:26467025|PMID:28492532 12012748 WNK1 WNK lysine deficient protein kinase 1 gene DOID:557 kidney disease ISO RGD:1343905 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21865292 12012748 WNK1 WNK lysine deficient protein kinase 1 gene DOID:630 genetic disease ISO RGD:1343905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15060842|PMID:15911806|PMID:17576681|PMID:21089229|PMID:22910560|PMID:23149595|PMID:25741868|PMID:27671536|PMID:28492532|PMID:31949730|PMID:9536098 12012748 WNK1 WNK lysine deficient protein kinase 1 gene DOID:9002890 Pseudohypoaldosteronism, Type IIA ISO RGD:1343905 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome PMID:25741868|PMID:26467025|PMID:28492532 12012748 WNK1 WNK lysine deficient protein kinase 1 gene DOID:9006034 Pseudohypoaldosteronism, Type IIC ISO RGD:1343905 D RGD:7240710 20180130 OMIM 12012748 WNK1 WNK lysine deficient protein kinase 1 gene DOID:9006034 Pseudohypoaldosteronism, Type IIC ISO RGD:1343905 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2C PMID:10869238|PMID:11498583|PMID:16199547|PMID:17344846|PMID:18580052|PMID:21530900|PMID:22073419|PMID:22910560|PMID:22934535|PMID:23149595|PMID:25741868|PMID:26467025|PMID:28492532 12012748 WNK1 WNK lysine deficient protein kinase 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1343905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12012779 RTN4 reticulon 4 gene DOID:11832 visual epilepsy ISO RGD:620989 D RGD:9068941 20200609 RGD PMID:17439704|REF_RGD_ID:2314957 12012779 RTN4 reticulon 4 gene DOID:5419 schizophrenia ISO RGD:730919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20071518 12012779 RTN4 reticulon 4 gene DOID:630 genetic disease ISO RGD:730919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12012779 RTN4 reticulon 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12012800 DIAPH3 diaphanous related formin 3 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1350370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12012800 DIAPH3 diaphanous related formin 3 gene DOID:0060690 autosomal dominant auditory neuropathy 1 ISO RGD:1350370 D RGD:7240710 20180130 OMIM 12012800 DIAPH3 diaphanous related formin 3 gene DOID:0060690 autosomal dominant auditory neuropathy 1 ISO RGD:1350370 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 PMID:20624953|PMID:25741868|PMID:27658576|PMID:28492532 12012800 DIAPH3 diaphanous related formin 3 gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:1314906 D RGD:9068941 20220825 MouseDO 12012800 DIAPH3 diaphanous related formin 3 gene DOID:630 genetic disease ISO RGD:1350370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:30311386 12012800 DIAPH3 diaphanous related formin 3 gene DOID:9004538 Hearing Loss ISO RGD:1350370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:28492532|PMID:30311386 12012833 USP12 ubiquitin specific peptidase 12 gene DOID:630 genetic disease ISO RGD:1317587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12012856 DONSON DNA replication fork stabilization factor DONSON gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12012856 DONSON DNA replication fork stabilization factor DONSON gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1603397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:25741868|PMID:31784481 12012856 DONSON DNA replication fork stabilization factor DONSON gene DOID:0060898 Parkinson's disease 20 ISO RGD:1603397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12012856 DONSON DNA replication fork stabilization factor DONSON gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1603397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12012856 DONSON DNA replication fork stabilization factor DONSON gene DOID:0080512 Meier-Gorlin syndrome 1 ISO RGD:1603397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 PMID:25741868 12012856 DONSON DNA replication fork stabilization factor DONSON gene DOID:10907 microcephaly ISO RGD:1603397 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191891 12012856 DONSON DNA replication fork stabilization factor DONSON gene DOID:630 genetic disease ISO RGD:1603397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28191891|PMID:28331220|PMID:28492532|PMID:28630177|PMID:31407851 12012856 DONSON DNA replication fork stabilization factor DONSON gene DOID:9002621 Microcephaly-Micromelia Syndrome ISO RGD:1603397 D RGD:7240710 20200923 OMIM 12012856 DONSON DNA replication fork stabilization factor DONSON gene DOID:9002621 Microcephaly-Micromelia Syndrome ISO RGD:1603397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly-micromelia syndrome PMID:25741868|PMID:28191891|PMID:28331220|PMID:28492532|PMID:28630177|PMID:31407851|PMID:34645488 12012856 DONSON DNA replication fork stabilization factor DONSON gene DOID:9002832 Microcephaly, Short Stature, and Limb Abnormalities ISO RGD:1603397 D RGD:7240710 20190315 OMIM 12012856 DONSON DNA replication fork stabilization factor DONSON gene DOID:9002832 Microcephaly, Short Stature, and Limb Abnormalities ISO RGD:1603397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly, short stature, and limb abnormalities PMID:25741868|PMID:28191891|PMID:28331220|PMID:28492532|PMID:28630177|PMID:31407851|PMID:34645488|PMID:8434992 12012856 DONSON DNA replication fork stabilization factor DONSON gene DOID:9005698 ZTTK Syndrome ISO RGD:1603397 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 12012856 DONSON DNA replication fork stabilization factor DONSON gene DOID:9007661 Dwarfism ISO RGD:1603397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:28191891|PMID:28331220|PMID:28492532|PMID:31407851 12012856 DONSON DNA replication fork stabilization factor DONSON gene DOID:9008443 Colorectal Neoplasms ISO RGD:1603397 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 12012869 ZPR1 ZPR1 zinc finger gene DOID:1059 intellectual disability ISO RGD:1323503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12012869 ZPR1 ZPR1 zinc finger gene DOID:630 genetic disease ISO RGD:1323503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12012869 ZPR1 ZPR1 zinc finger gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1323503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12012869 ZPR1 ZPR1 zinc finger gene DOID:9005701 GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES ISO RGD:1323503 D RGD:7240710 20210623 OMIM 12012869 ZPR1 ZPR1 zinc finger gene DOID:9005701 GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES ISO RGD:1323503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies PMID:29851065 12012869 ZPR1 ZPR1 zinc finger gene DOID:9007661 Dwarfism ISO RGD:1323503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12012915 RERE arginine-glutamic acid dipeptide repeats gene DOID:0060041 autism spectrum disorder ISO RGD:1344336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12012915 RERE arginine-glutamic acid dipeptide repeats gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1344336 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12012915 RERE arginine-glutamic acid dipeptide repeats gene DOID:12849 autistic disorder ISO RGD:1344336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 12012915 RERE arginine-glutamic acid dipeptide repeats gene DOID:630 genetic disease ISO RGD:1344336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26350515|PMID:27087320|PMID:28492532 12012915 RERE arginine-glutamic acid dipeptide repeats gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1344336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12012915 RERE arginine-glutamic acid dipeptide repeats gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12012915 RERE arginine-glutamic acid dipeptide repeats gene DOID:9004468 Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart ISO RGD:1344336 D RGD:7240710 20190315 OMIM 12012915 RERE arginine-glutamic acid dipeptide repeats gene DOID:9004468 Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart ISO RGD:1344336 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart PMID:25741868|PMID:26350515|PMID:27087320|PMID:28492532|PMID:29330883 12012915 RERE arginine-glutamic acid dipeptide repeats gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1344336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515|PMID:27087320 12012915 RERE arginine-glutamic acid dipeptide repeats gene DOID:9008086 Developmental Disabilities ISO RGD:1344336 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12012915 RERE arginine-glutamic acid dipeptide repeats gene DOID:9008582 Developmental Disease ISO RGD:1344336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12012946 TAF13 TATA-box binding protein associated factor 13 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1313406 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:25741868|PMID:28257693 12012946 TAF13 TATA-box binding protein associated factor 13 gene DOID:0081222 autosomal recessive intellectual developmental disorder 60 ISO RGD:1313406 D RGD:7240710 20190315 OMIM 12012946 TAF13 TATA-box binding protein associated factor 13 gene DOID:0081222 autosomal recessive intellectual developmental disorder 60 ISO RGD:1313406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 60 | ClinVar Annotator: match by term: Mental retardation, autosomal recessive 60 PMID:25741868|PMID:28257693 12012946 TAF13 TATA-box binding protein associated factor 13 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1313406 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12012946 TAF13 TATA-box binding protein associated factor 13 gene DOID:12849 autistic disorder ISO RGD:1313406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12012946 TAF13 TATA-box binding protein associated factor 13 gene DOID:5419 schizophrenia ISO RGD:1313406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12012946 TAF13 TATA-box binding protein associated factor 13 gene DOID:630 genetic disease ISO RGD:1313406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12012954 TP73 tumor protein p73 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1316062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 12012954 TP73 tumor protein p73 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1316062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12012954 TP73 tumor protein p73 gene DOID:0050861 colorectal adenocarcinoma exacerbates ISO RGD:1316062 D RGD:9068941 20220128 RGD protein:increased expression:colon (human) PMID:19956069|REF_RGD_ID:151347585 12012954 TP73 tumor protein p73 gene DOID:0060081 triple-receptor negative breast cancer ISO RGD:1316062 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:17446929|REF_RGD_ID:2290583 12012954 TP73 tumor protein p73 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1316062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12012954 TP73 tumor protein p73 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1316062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12012954 TP73 tumor protein p73 gene DOID:0111934 immunodeficiency 38 ISO RGD:1316062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12012954 TP73 tumor protein p73 gene DOID:0111935 immunodeficiency 16 ISO RGD:1316062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12012954 TP73 tumor protein p73 gene DOID:10283 prostate cancer ISO RGD:1316062 D RGD:9068941 20200609 RGD mRNA:alternative forms PMID:15492805|REF_RGD_ID:2298529 12012954 TP73 tumor protein p73 gene DOID:10286 prostate carcinoma disease_progression ISO RGD:1316062 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland PMID:16254107|REF_RGD_ID:2290587 12012954 TP73 tumor protein p73 gene DOID:10534 stomach cancer exacerbates ISO RGD:1316062 D RGD:9068941 20220128 RGD mRNA:decreased expression:stomach (human) PMID:16190407|REF_RGD_ID:151347595 12012954 TP73 tumor protein p73 gene DOID:10754 otitis media ISO RGD:1316063 D RGD:9068941 20220825 MouseDO OMIM:166760 12012954 TP73 tumor protein p73 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1316062 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:10383132|REF_RGD_ID:2291836 12012954 TP73 tumor protein p73 gene DOID:11132 prostatic hypertrophy ISO RGD:1316062 D RGD:9068941 20200609 RGD mRNA:alternative forms PMID:15492805|REF_RGD_ID:2298529 12012954 TP73 tumor protein p73 gene DOID:11162 respiratory failure ISO RGD:1316062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Respiratory failure PMID:34077761 12012954 TP73 tumor protein p73 gene DOID:1324 lung cancer ISO RGD:1316062 D RGD:9068941 20200609 RGD PMID:11139314|REF_RGD_ID:2291830 12012954 TP73 tumor protein p73 gene DOID:1324 lung cancer susceptibility ISO RGD:1316062 D RGD:9068941 20220128 RGD DNA:SNPs:exon 2:4G>A, 14C>T (human) PMID:32063627|REF_RGD_ID:151347583 12012954 TP73 tumor protein p73 gene DOID:1612 breast cancer ISO RGD:1316062 D RGD:9068941 20200609 RGD PMID:11139314|REF_RGD_ID:2291830 12012954 TP73 tumor protein p73 gene DOID:1612 breast cancer ISO RGD:1316062 D RGD:9068941 20200609 RGD DNA, mRNA:loss of heterozygosity, decreased expression:breast PMID:11103943|REF_RGD_ID:2291831 12012954 TP73 tumor protein p73 gene DOID:1612 breast cancer ISO RGD:1316062 D RGD:9068941 20220128 RGD DNA:deletion:intron:IVS1-489_-417del (human) PMID:14732927|REF_RGD_ID:151347588 12012954 TP73 tumor protein p73 gene DOID:1612 breast cancer disease_progression ISO RGD:1316062 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:16950799|REF_RGD_ID:2290584 12012954 TP73 tumor protein p73 gene DOID:1612 breast cancer no_association ISO RGD:1316062 D RGD:9068941 20200609 RGD DNA:mutations PMID:10634515|REF_RGD_ID:2291835 12012954 TP73 tumor protein p73 gene DOID:2154 nephroblastoma ISO RGD:1316062 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:kidney PMID:10760569|REF_RGD_ID:2291834 12012954 TP73 tumor protein p73 gene DOID:234 colon adenocarcinoma ISO RGD:1316062 D RGD:9068941 20220128 RGD mRNA:increased expression:colon (human) PMID:30420492|REF_RGD_ID:151347580 12012954 TP73 tumor protein p73 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1316062 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:15492852|REF_RGD_ID:2290588 12012954 TP73 tumor protein p73 gene DOID:3007 breast ductal carcinoma ISO RGD:1316062 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast PMID:17011986|REF_RGD_ID:2290492 12012954 TP73 tumor protein p73 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1316062 D RGD:9068941 20220128 RGD mRNA:increased expression:lung (human) PMID:30420492|REF_RGD_ID:151347580 12012954 TP73 tumor protein p73 gene DOID:3907 lung squamous cell carcinoma treatment ISO RGD:1316062 D RGD:9068941 20230216 RGD DNA:SNP:: rs2273953(human) PMID:27246533|REF_RGD_ID:151347584 12012954 TP73 tumor protein p73 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1316062 D RGD:9068941 20220128 RGD DNA:SNP:intron: (rs3765701) (human) PMID:21965272|REF_RGD_ID:151347589 12012954 TP73 tumor protein p73 gene DOID:4051 alveolar rhabdomyosarcoma ISO RGD:1316062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245298 12012954 TP73 tumor protein p73 gene DOID:4362 cervical cancer susceptibility ISO RGD:1316062 D RGD:9068941 20220128 RGD DNA:SNPs:exon 2:4G>A, 14C>T (rs2273953, rs1801173) (human) PMID:30420492|REF_RGD_ID:151347580 12012954 TP73 tumor protein p73 gene DOID:4450 renal cell carcinoma ISO RGD:1316062 D RGD:9068941 20200609 RGD PMID:9796703|REF_RGD_ID:2291837 12012954 TP73 tumor protein p73 gene DOID:5409 lung small cell carcinoma ISO RGD:1316062 D RGD:9068941 20220128 RGD DNA:mutations:multiple: (human) PMID:26168399|REF_RGD_ID:151347582 12012954 TP73 tumor protein p73 gene DOID:630 genetic disease ISO RGD:1316062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12012954 TP73 tumor protein p73 gene DOID:657 adenoma ISO RGD:1316062 D RGD:9068941 20220128 RGD DNA:hypermethylation:promoter: (human) PMID:29945573|REF_RGD_ID:151347590 12012954 TP73 tumor protein p73 gene DOID:684 hepatocellular carcinoma ISO RGD:1316062 D RGD:9068941 20220128 RGD mRNA:increased expression:liver (human) PMID:14760085|PMID:19664633|PMID:31429776|REF_RGD_ID:151347592|REF_RGD_ID:151347593|REF_RGD_ID:151347594 12012954 TP73 tumor protein p73 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1316062 D RGD:9068941 20220128 RGD protein:decreased phosphorylation:liver (human) PMID:27359056|REF_RGD_ID:151347579 12012954 TP73 tumor protein p73 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1316062 D RGD:9068941 20220128 RGD human cells in a mouse model PMID:25371988|REF_RGD_ID:151347596 12012954 TP73 tumor protein p73 gene DOID:769 neuroblastoma no_association ISO RGD:1316062 D RGD:9068941 20200609 RGD PMID:9288759|REF_RGD_ID:1599583 12012954 TP73 tumor protein p73 gene DOID:8923 skin melanoma ISO RGD:1316062 D RGD:9068941 20220128 RGD mRNA:increased expression:skin of body (human) PMID:30420492|REF_RGD_ID:151347580 12012954 TP73 tumor protein p73 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:1316062 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix PMID:11870517|REF_RGD_ID:2290589 12012954 TP73 tumor protein p73 gene DOID:9000509 Epstein-Barr Virus Infections ISO RGD:1316062 D RGD:9068941 20220128 RGD associated with stomach carcinoma;DNA:hypermethylation:promoter (human) PMID:23829175|REF_RGD_ID:151347586 12012954 TP73 tumor protein p73 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1316062 D RGD:9068941 20200609 RGD PMID:11051237|REF_RGD_ID:2291833 12012954 TP73 tumor protein p73 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1316062 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:ovary PMID:10760569|REF_RGD_ID:2291834 12012954 TP73 tumor protein p73 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1316062 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:12928725|REF_RGD_ID:2298530 12012954 TP73 tumor protein p73 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1316062 D RGD:9068941 20200609 RGD mRNA, protein:splice variant, increased expression:uterine cervix PMID:11870517|REF_RGD_ID:2290589 12012954 TP73 tumor protein p73 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1316062 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix PMID:17504382|REF_RGD_ID:2290582 12012954 TP73 tumor protein p73 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:1316062 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:16818688|REF_RGD_ID:2290586 12012954 TP73 tumor protein p73 gene DOID:9003814 Neurologic Manifestations ISO RGD:1316063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24190996 12012954 TP73 tumor protein p73 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30057029 12012954 TP73 tumor protein p73 gene DOID:9005172 Lung Neoplasms ISO RGD:1316062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28212736 12012954 TP73 tumor protein p73 gene DOID:9005352 CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY ISO RGD:1316062 D RGD:7240710 20210818 OMIM 12012954 TP73 tumor protein p73 gene DOID:9005352 CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY ISO RGD:1316062 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 47, and lissencephaly PMID:25741868|PMID:34077761 12012954 TP73 tumor protein p73 gene DOID:9005372 Inflammation ISO RGD:1316062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28212736 12012954 TP73 tumor protein p73 gene DOID:9005804 Vulvar Neoplasms ISO RGD:1316062 D RGD:9068941 20200609 RGD mRNA, protein:splice variant, increased expression:vulva PMID:11720444|REF_RGD_ID:2290590 12012954 TP73 tumor protein p73 gene DOID:9006534 Nervous System Malformations ISO RGD:1316063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24190996 12012954 TP73 tumor protein p73 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1316062 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:16928264|REF_RGD_ID:2290585 12012954 TP73 tumor protein p73 gene DOID:9007715 Endometrial Neoplasms susceptibility ISO RGD:1316062 D RGD:9068941 20200609 RGD DNA:polymorphism:exon PMID:15723718|REF_RGD_ID:2298528 12012954 TP73 tumor protein p73 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1316062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12012954 TP73 tumor protein p73 gene DOID:9008939 Breast Neoplasms ISO RGD:1316062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28212736 12012954 TP73 tumor protein p73 gene DOID:9256 colorectal cancer ISO RGD:1316062 D RGD:9068941 20220128 RGD DNA:deletion:intron:IVS1-489_-417del (human) PMID:14732927|REF_RGD_ID:151347588 12012954 TP73 tumor protein p73 gene DOID:9256 colorectal cancer ISO RGD:1316062 D RGD:9068941 20220128 RGD DNA:hypermethylation:promoter: (human) PMID:29945573|REF_RGD_ID:151347590 12012954 TP73 tumor protein p73 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1316062 D RGD:9068941 20220128 RGD DNA:SNP:intron:g.3636226T>C (rs747828) (human) PMID:31090204|REF_RGD_ID:151347587 12012954 TP73 tumor protein p73 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1316062 D RGD:9068941 20220128 RGD DNA:SNPs:exon 2:4G>A, 14C>T (rs2273953, rs1801173) (human) PMID:21672615|PMID:30420492|REF_RGD_ID:151347580|REF_RGD_ID:151347581 12012987 NUDT12 nudix hydrolase 12 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1322074 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12012987 NUDT12 nudix hydrolase 12 gene DOID:630 genetic disease ISO RGD:1322074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12012987 NUDT12 nudix hydrolase 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12012987 NUDT12 nudix hydrolase 12 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322074 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12013006 PLCD1 phospholipase C delta 1 gene DOID:0050451 Brugada syndrome ISO RGD:733331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 12013006 PLCD1 phospholipase C delta 1 gene DOID:0080081 nonsyndromic congenital nail disorder 3 ISO RGD:733331 D RGD:7240710 20180130 OMIM 12013006 PLCD1 phospholipase C delta 1 gene DOID:0080081 nonsyndromic congenital nail disorder 3 ISO RGD:733331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 3 PMID:21665001|PMID:25741868 12013006 PLCD1 phospholipase C delta 1 gene DOID:10652 Alzheimer's disease ISO RGD:733331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early onset PMID:25741868 12013006 PLCD1 phospholipase C delta 1 gene DOID:10763 hypertension ISO RGD:3346 D RGD:9068941 20200609 RGD protein:increased activity:aorta PMID:1313006|REF_RGD_ID:2300423 12013006 PLCD1 phospholipase C delta 1 gene DOID:10763 hypertension ISO RGD:3346 D RGD:9068941 20200609 RGD protein:increased expression:aorta, arteriole, glomerulus PMID:17198910|REF_RGD_ID:2300421 12013006 PLCD1 phospholipase C delta 1 gene DOID:6000 congestive heart failure ISO RGD:3346 D RGD:9068941 20200609 RGD PMID:11181012|REF_RGD_ID:2300431 12013006 PLCD1 phospholipase C delta 1 gene DOID:630 genetic disease ISO RGD:733331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12013006 PLCD1 phospholipase C delta 1 gene DOID:8398 osteoarthritis ISO RGD:733331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12013006 PLCD1 phospholipase C delta 1 gene DOID:9004464 Skin Neoplasms ISO RGD:1553559 D RGD:9068941 20200609 RGD PMID:12805213|REF_RGD_ID:1302551 12013006 PLCD1 phospholipase C delta 1 gene DOID:9006024 Hypotension susceptibility ISO RGD:3346 D RGD:9068941 20200609 RGD DNA:missense mutation PMID:1358065|REF_RGD_ID:2300422 12013006 PLCD1 phospholipase C delta 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:3346 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:15276620|REF_RGD_ID:2300429 12013006 PLCD1 phospholipase C delta 1 gene DOID:9007480 Hyperoxia ISO RGD:3346 D RGD:9068941 20200609 RGD protein:altered localization PMID:12850505|REF_RGD_ID:1299008 12013006 PLCD1 phospholipase C delta 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3346 D RGD:9068941 20200609 RGD protein:altered activity PMID:12623065|REF_RGD_ID:1304368 12013006 PLCD1 phospholipase C delta 1 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:733331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 12013006 PLCD1 phospholipase C delta 1 gene DOID:987 alopecia ISO RGD:1553559 D RGD:9068941 20200609 RGD PMID:12805213|REF_RGD_ID:1302551 12013028 SLC45A3 solute carrier family 45 member 3 gene DOID:0080600 COVID-19 ISO RGD:1346444 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12013028 SLC45A3 solute carrier family 45 member 3 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1346444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12013028 SLC45A3 solute carrier family 45 member 3 gene DOID:12849 autistic disorder ISO RGD:1346444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12013028 SLC45A3 solute carrier family 45 member 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1346444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12013028 SLC45A3 solute carrier family 45 member 3 gene DOID:3307 teratoma ISO RGD:1346444 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 12013028 SLC45A3 solute carrier family 45 member 3 gene DOID:630 genetic disease ISO RGD:1346444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12013028 SLC45A3 solute carrier family 45 member 3 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1346444 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12013028 SLC45A3 solute carrier family 45 member 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12013049 NIPA1 NIPA magnesium transporter 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21187176|PMID:21844811|PMID:23044707|PMID:23495136|PMID:25255310|PMID:25741868|PMID:27569545 12013049 NIPA1 NIPA magnesium transporter 1 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1606742 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome PMID:31690835 12013049 NIPA1 NIPA magnesium transporter 1 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1606742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant PMID:28492532 12013049 NIPA1 NIPA magnesium transporter 1 gene DOID:0110811 hereditary spastic paraplegia 6 ISO RGD:1606742 D RGD:7240710 20180130 OMIM 12013049 NIPA1 NIPA magnesium transporter 1 gene DOID:0110811 hereditary spastic paraplegia 6 ISO RGD:1606742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 PMID:14508710|PMID:15643603|PMID:15711826|PMID:16267846|PMID:17092466|PMID:17166836|PMID:17268193|PMID:17928003|PMID:18191948|PMID:19091982|PMID:19620182|PMID:20816793|PMID:21419568|PMID:21599812|PMID:22302102|PMID:22378146|PMID:23032108|PMID:23850684|PMID:24075313|PMID:24128679|PMID:25341883|PMID:25689425|PMID:25741868|PMID:26467025|PMID:27084228|PMID:28492532|PMID:28832565|PMID:29934652|PMID:31104286|PMID:31630374|PMID:32500351|PMID:32581362|PMID:7825577 12013049 NIPA1 NIPA magnesium transporter 1 gene DOID:1059 intellectual disability ISO RGD:1606742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12013049 NIPA1 NIPA magnesium transporter 1 gene DOID:12849 autistic disorder ISO RGD:1606742 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 12013049 NIPA1 NIPA magnesium transporter 1 gene DOID:1932 Angelman syndrome ISO RGD:1606742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome 12013049 NIPA1 NIPA magnesium transporter 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1606742 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:15643603|PMID:15711826|PMID:16267846|PMID:17092466|PMID:17166836|PMID:18191948|PMID:19091982|PMID:19620182|PMID:20816793|PMID:21599812|PMID:22302102|PMID:24075313|PMID:24128679|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28832565|PMID:29934652|PMID:31104286|PMID:31630374|PMID:32500351|PMID:32581362 12013049 NIPA1 NIPA magnesium transporter 1 gene DOID:5419 schizophrenia ISO RGD:1606742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12013049 NIPA1 NIPA magnesium transporter 1 gene DOID:607 paraplegia ISO RGD:1606742 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:15643603|PMID:15711826|PMID:16267846|PMID:17092466|PMID:17166836|PMID:18191948|PMID:19091982|PMID:19620182|PMID:20816793|PMID:21599812|PMID:22302102|PMID:24075313|PMID:24128679|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28832565|PMID:29934652|PMID:31104286|PMID:31630374|PMID:32500351|PMID:32581362 12013049 NIPA1 NIPA magnesium transporter 1 gene DOID:630 genetic disease ISO RGD:1606742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 12013049 NIPA1 NIPA magnesium transporter 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 12013065 C1H1orf122 chromosome 1 C1orf122 homolog gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12013065 C1H1orf122 chromosome 1 C1orf122 homolog gene DOID:630 genetic disease ISO RGD:1606463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12013065 C1H1orf122 chromosome 1 C1orf122 homolog gene DOID:9002926 Galloway-Mowat Syndrome 10 ISO RGD:1606463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 PMID:31481669 12013071 ALAS2 5'-aminolevulinate synthase 2 gene DOID:0050554 X-linked sideroblastic anemia with ataxia ISO RGD:736755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia 12013071 ALAS2 5'-aminolevulinate synthase 2 gene DOID:0060063 sideroblastic anemia 1 ISO RGD:736755 D RGD:7240710 20180130 OMIM 12013071 ALAS2 5'-aminolevulinate synthase 2 gene DOID:0060063 sideroblastic anemia 1 ISO RGD:736755 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia PMID:10029606|PMID:10444183|PMID:11110715|PMID:12031592|PMID:12531813|PMID:12663458|PMID:1570328|PMID:16121195|PMID:16446107|PMID:18823803|PMID:20848343|PMID:21309041|PMID:21653323|PMID:22269113|PMID:22740690|PMID:22778251|PMID:22995991|PMID:23315997|PMID:23409301|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28840292|PMID:32297424|PMID:7560104|PMID:7592563|PMID:7705839|PMID:7949148|PMID:8107717|PMID:9226183|PMID:9488633|PMID:9858242 12013071 ALAS2 5'-aminolevulinate synthase 2 gene DOID:0060063 sideroblastic anemia 1 onset ISO RGD:736755 D RGD:9068941 20200609 RGD DNA:mutation:exon: 1236 G> A, p.C395Y (human) PMID:11110715|REF_RGD_ID:11035243 12013071 ALAS2 5'-aminolevulinate synthase 2 gene DOID:0060063 sideroblastic anemia 1 onset ISO RGD:736755 D RGD:9068941 20200609 RGD DNA:mutations:exons:p.K299Q,A172T(human) PMID:7560104|REF_RGD_ID:11035241 12013071 ALAS2 5'-aminolevulinate synthase 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12013071 ALAS2 5'-aminolevulinate synthase 2 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:736755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 12013071 ALAS2 5'-aminolevulinate synthase 2 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:736755 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 PMID:25326637|PMID:28492532 12013071 ALAS2 5'-aminolevulinate synthase 2 gene DOID:12849 autistic disorder ISO RGD:736755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12013071 ALAS2 5'-aminolevulinate synthase 2 gene DOID:13271 cutaneous porphyria severity ISO RGD:736755 D RGD:9068941 20200609 RGD DNA:mutation:exon: c.1757 A > T, p.Y586F (human) PMID:21653323|REF_RGD_ID:11035240 12013071 ALAS2 5'-aminolevulinate synthase 2 gene DOID:2352 hemochromatosis severity ISO RGD:736755 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.15599C>T,p.520L(human) PMID:16446107|REF_RGD_ID:11035246 12013071 ALAS2 5'-aminolevulinate synthase 2 gene DOID:2355 anemia ISO RGD:2084 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver: PMID:21296123|REF_RGD_ID:10449049 12013071 ALAS2 5'-aminolevulinate synthase 2 gene DOID:2741 bilirubin metabolic disorder ISO RGD:2084 D RGD:9068941 20200609 RGD protein:decreased activity:liver: PMID:8351413|REF_RGD_ID:11035235 12013071 ALAS2 5'-aminolevulinate synthase 2 gene DOID:3890 acute intermittent porphyria ISO RGD:736755 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:23650938|REF_RGD_ID:18337288 12013071 ALAS2 5'-aminolevulinate synthase 2 gene DOID:583 hemolytic anemia ISO RGD:2084 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:17082564|REF_RGD_ID:1599038 12013071 ALAS2 5'-aminolevulinate synthase 2 gene DOID:630 genetic disease ISO RGD:736755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12013071 ALAS2 5'-aminolevulinate synthase 2 gene DOID:8955 sideroblastic anemia ISO RGD:736755 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16716198|PMID:16892088 12013071 ALAS2 5'-aminolevulinate synthase 2 gene DOID:8955 sideroblastic anemia susceptibility ISO RGD:736755 D RGD:9068941 20200609 RGD DNA:transversion:cds:p.F165L (human) PMID:7949148|REF_RGD_ID:1599037 12013071 ALAS2 5'-aminolevulinate synthase 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736755 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 12013071 ALAS2 5'-aminolevulinate synthase 2 gene DOID:9008396 Erythropoietic Protoporphyria, X-Linked Dominant ISO RGD:736755 D RGD:7240710 20180130 OMIM 12013071 ALAS2 5'-aminolevulinate synthase 2 gene DOID:9008396 Erythropoietic Protoporphyria, X-Linked Dominant ISO RGD:736755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ERYTHROHEPATIC PROTOPORPHYRIA, X-LINKED | ClinVar Annotator: match by term: Erythropoietic Protoporphyria, X-Linked Dominant PMID:18760763|PMID:23263862|PMID:23409301|PMID:28492532 12013071 ALAS2 5'-aminolevulinate synthase 2 gene DOID:9008396 Erythropoietic Protoporphyria, X-Linked Dominant disease_progression ISO RGD:736755 D RGD:9068941 20200609 RGD DNA:deletions:exon: c.1699-1700delAT, c.1706-1709delAGTG (human) PMID:18760763|REF_RGD_ID:18337287 12013088 ZNF175 zinc finger protein 175 gene DOID:630 genetic disease ISO RGD:1346277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12013098 GCNT4 glucosaminyl (N-acetyl) transferase 4 gene DOID:3323 Sandhoff disease ISO RGD:1602489 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 12013098 GCNT4 glucosaminyl (N-acetyl) transferase 4 gene DOID:630 genetic disease ISO RGD:1602489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12013098 GCNT4 glucosaminyl (N-acetyl) transferase 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12013113 NOS2 nitric oxide synthase 2 gene DOID:0050152 aspiration pneumonia ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15607125 12013113 NOS2 nitric oxide synthase 2 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10620138 12013113 NOS2 nitric oxide synthase 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:colon (rat) PMID:21958875|REF_RGD_ID:5508753 12013113 NOS2 nitric oxide synthase 2 gene DOID:0050848 obstructive sleep apnea ISO RGD:730951 D RGD:9068941 20200609 RGD associated with obesity; protein:increased expression:sputum PMID:18098375|REF_RGD_ID:4891935 12013113 NOS2 nitric oxide synthase 2 gene DOID:0050848 obstructive sleep apnea severity ISO RGD:730951 D RGD:9068941 20200609 RGD protein:decreased expression, decreased phosphorylation:endothelial cell PMID:18413499|REF_RGD_ID:4891909 12013113 NOS2 nitric oxide synthase 2 gene DOID:0060001 withdrawal disorder ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19751225 12013113 NOS2 nitric oxide synthase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:730951 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12013113 NOS2 nitric oxide synthase 2 gene DOID:0060180 colitis ISO RGD:10996 D RGD:9068941 20200609 RGD mRNA:increased expression:colon (mouse) PMID:21930116|REF_RGD_ID:5509045 12013113 NOS2 nitric oxide synthase 2 gene DOID:0060180 colitis ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:16866779|REF_RGD_ID:4891411 12013113 NOS2 nitric oxide synthase 2 gene DOID:0060180 colitis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17449036|PMID:8698225 12013113 NOS2 nitric oxide synthase 2 gene DOID:0060496 respiratory allergy ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:19800904|REF_RGD_ID:4891497 12013113 NOS2 nitric oxide synthase 2 gene DOID:0060496 respiratory allergy treatment ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:21983654|REF_RGD_ID:8549812 12013113 NOS2 nitric oxide synthase 2 gene DOID:0080178 mucositis ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:jejunum (rat) PMID:21846355|REF_RGD_ID:5509078 12013113 NOS2 nitric oxide synthase 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:10996 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (mouse) PMID:21948338|REF_RGD_ID:5509578 12013113 NOS2 nitric oxide synthase 2 gene DOID:0080784 urinary tract infection ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9011564 12013113 NOS2 nitric oxide synthase 2 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased enzyme activity:pancreas PMID:15257108|REF_RGD_ID:2325241 12013113 NOS2 nitric oxide synthase 2 gene DOID:0081292 traumatic brain injury ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28642177 12013113 NOS2 nitric oxide synthase 2 gene DOID:10112 sleeping sickness ISO RGD:3185 D RGD:9068941 20200609 RGD protein:altered activity:brain, peritoneal macrophage PMID:20169057|REF_RGD_ID:4891375 12013113 NOS2 nitric oxide synthase 2 gene DOID:10247 pleurisy ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:20141620|REF_RGD_ID:4142808 12013113 NOS2 nitric oxide synthase 2 gene DOID:10247 pleurisy ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:pleural cavity (rat) PMID:21898269|REF_RGD_ID:7175307 12013113 NOS2 nitric oxide synthase 2 gene DOID:10320 asbestosis ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:12160931|REF_RGD_ID:4891441 12013113 NOS2 nitric oxide synthase 2 gene DOID:10320 asbestosis ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung PMID:12051993|REF_RGD_ID:4891438 12013113 NOS2 nitric oxide synthase 2 gene DOID:10320 asbestosis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12160931 12013113 NOS2 nitric oxide synthase 2 gene DOID:10325 silicosis ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:15205031|REF_RGD_ID:4891445 12013113 NOS2 nitric oxide synthase 2 gene DOID:10325 silicosis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15292275 12013113 NOS2 nitric oxide synthase 2 gene DOID:10652 Alzheimer's disease ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:16908860|REF_RGD_ID:5508721 12013113 NOS2 nitric oxide synthase 2 gene DOID:10652 Alzheimer's disease ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:21163295|REF_RGD_ID:4891161 12013113 NOS2 nitric oxide synthase 2 gene DOID:10652 Alzheimer's disease ISO RGD:730951 D RGD:9068941 20200609 RGD PMID:12384247|REF_RGD_ID:13824978 12013113 NOS2 nitric oxide synthase 2 gene DOID:1073 renal hypertension ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:20360752|REF_RGD_ID:4891374 12013113 NOS2 nitric oxide synthase 2 gene DOID:10754 otitis media ISO RGD:3185 D RGD:9068941 20200609 RGD associated with Haemophilus Infections; mRNA, protein:increased expression:middle ear PMID:18524391|REF_RGD_ID:4891398 12013113 NOS2 nitric oxide synthase 2 gene DOID:10763 hypertension ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:kidney PMID:15773227|REF_RGD_ID:1580264 12013113 NOS2 nitric oxide synthase 2 gene DOID:10763 hypertension ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18605955|PMID:25101153|PMID:27292124 12013113 NOS2 nitric oxide synthase 2 gene DOID:10763 hypertension ISO RGD:730951 D RGD:9068941 20200609 RGD PMID:11702222|REF_RGD_ID:1298023 12013113 NOS2 nitric oxide synthase 2 gene DOID:10808 gastric ulcer ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12481160|PMID:15138204|PMID:19066340 12013113 NOS2 nitric oxide synthase 2 gene DOID:11044 gastroschisis ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:intestine (rat) PMID:21960425|REF_RGD_ID:5508749 12013113 NOS2 nitric oxide synthase 2 gene DOID:11339 pneumocystosis ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA:increased expression:alveolar macrophage PMID:20377877|REF_RGD_ID:4144112 12013113 NOS2 nitric oxide synthase 2 gene DOID:11339 pneumocystosis ISO RGD:3185 D RGD:9068941 20200609 RGD protein:decreased dimerization:alveolar macrophage PMID:20558778|REF_RGD_ID:4891486 12013113 NOS2 nitric oxide synthase 2 gene DOID:11396 pulmonary edema ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:alveolus PMID:16256382|REF_RGD_ID:4891463 12013113 NOS2 nitric oxide synthase 2 gene DOID:11396 pulmonary edema ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:14767587|REF_RGD_ID:5132626 12013113 NOS2 nitric oxide synthase 2 gene DOID:11713 diabetic angiopathy ISO RGD:3185 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19587355|REF_RGD_ID:2313210 12013113 NOS2 nitric oxide synthase 2 gene DOID:11713 diabetic angiopathy ISO RGD:3185 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:cochlea PMID:19241604|REF_RGD_ID:4891384 12013113 NOS2 nitric oxide synthase 2 gene DOID:1176 bronchial disease ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15774269 12013113 NOS2 nitric oxide synthase 2 gene DOID:12217 Lewy body dementia ISO RGD:730951 D RGD:9068941 20200609 RGD PMID:10674474|REF_RGD_ID:1358529 12013113 NOS2 nitric oxide synthase 2 gene DOID:12236 primary biliary cholangitis ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:brain (rat) PMID:21903766|REF_RGD_ID:5509055 12013113 NOS2 nitric oxide synthase 2 gene DOID:12236 primary biliary cholangitis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12013113 NOS2 nitric oxide synthase 2 gene DOID:12365 malaria ISO RGD:730951 D RGD:7240710 20230505 OMIM 12013113 NOS2 nitric oxide synthase 2 gene DOID:12365 malaria ISO RGD:730951 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malaria, resistance to | ClinVar Annotator: match by term: Malaria, severe, resistance to | ClinVar Annotator: match by term: Malaria, susceptibility to PMID:12433515|PMID:31995689|PMID:9457101 12013113 NOS2 nitric oxide synthase 2 gene DOID:12849 autistic disorder ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18563708 12013113 NOS2 nitric oxide synthase 2 gene DOID:13025 retinopathy of prematurity ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:23204802|REF_RGD_ID:7257667 12013113 NOS2 nitric oxide synthase 2 gene DOID:1307 dementia ISO RGD:730951 D RGD:9068941 20200609 RGD PMID:10674474|REF_RGD_ID:1358529 12013113 NOS2 nitric oxide synthase 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16191423 12013113 NOS2 nitric oxide synthase 2 gene DOID:13141 uveitis ISO RGD:10996 D RGD:9068941 20200609 RGD protein:increased expression:eye (mouse) PMID:21911582|REF_RGD_ID:5509582 12013113 NOS2 nitric oxide synthase 2 gene DOID:13406 pulmonary sarcoidosis ISO RGD:730951 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11789718|REF_RGD_ID:4891449 12013113 NOS2 nitric oxide synthase 2 gene DOID:13413 hepatic encephalopathy ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19763802|REF_RGD_ID:5132590 12013113 NOS2 nitric oxide synthase 2 gene DOID:13548 secondary Parkinson disease ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25634431 12013113 NOS2 nitric oxide synthase 2 gene DOID:13580 cholestasis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12612912|PMID:20626112 12013113 NOS2 nitric oxide synthase 2 gene DOID:13619 extrahepatic cholestasis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12013113 NOS2 nitric oxide synthase 2 gene DOID:13949 interstitial cystitis ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:bladder PMID:21179332|REF_RGD_ID:4891153 12013113 NOS2 nitric oxide synthase 2 gene DOID:1407 anterior uveitis ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:eye (rat) PMID:21976127|REF_RGD_ID:5508734 12013113 NOS2 nitric oxide synthase 2 gene DOID:14115 toxic shock syndrome ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:16601845|REF_RGD_ID:1580268 12013113 NOS2 nitric oxide synthase 2 gene DOID:14115 toxic shock syndrome ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8745224 12013113 NOS2 nitric oxide synthase 2 gene DOID:14268 sclerosing cholangitis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12612912 12013113 NOS2 nitric oxide synthase 2 gene DOID:14323 Marfan syndrome ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 12013113 NOS2 nitric oxide synthase 2 gene DOID:14330 Parkinson's disease ISO RGD:10996 D RGD:9068941 20200609 RGD protein:increased expression:striatum (mouse) PMID:21970803|REF_RGD_ID:5509573 12013113 NOS2 nitric oxide synthase 2 gene DOID:1459 hypothyroidism ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:cerebral cortex PMID:21196918|REF_RGD_ID:4891143 12013113 NOS2 nitric oxide synthase 2 gene DOID:1485 cystic fibrosis ISO RGD:730951 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:respiratory mucosa PMID:16517573|REF_RGD_ID:4891958 12013113 NOS2 nitric oxide synthase 2 gene DOID:1724 duodenal ulcer ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12481160|PMID:17045617 12013113 NOS2 nitric oxide synthase 2 gene DOID:1793 pancreatic cancer ISO RGD:730951 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:15165031|REF_RGD_ID:2325248 12013113 NOS2 nitric oxide synthase 2 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:11196200|PMID:11687972|REF_RGD_ID:2325257|REF_RGD_ID:2325262 12013113 NOS2 nitric oxide synthase 2 gene DOID:1824 status epilepticus ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20149694 12013113 NOS2 nitric oxide synthase 2 gene DOID:1875 impotence ISO RGD:3185 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:penis PMID:19554009|REF_RGD_ID:2313212 12013113 NOS2 nitric oxide synthase 2 gene DOID:1936 atherosclerosis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20720404 12013113 NOS2 nitric oxide synthase 2 gene DOID:2237 hepatitis ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:21913985|REF_RGD_ID:6906896 12013113 NOS2 nitric oxide synthase 2 gene DOID:2316 brain ischemia ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17394460|PMID:9778187 12013113 NOS2 nitric oxide synthase 2 gene DOID:234 colon adenocarcinoma ISO RGD:730951 D RGD:9068941 20220826 RGD protein:increased expression:colon (human) PMID:22419013|REF_RGD_ID:153344572 12013113 NOS2 nitric oxide synthase 2 gene DOID:2508 Takayasu's arteritis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 12013113 NOS2 nitric oxide synthase 2 gene DOID:2799 bronchiolitis obliterans ISO RGD:730951 D RGD:9068941 20200609 RGD associated with lung transplantation; protein:increased expression:lung PMID:11112135|REF_RGD_ID:4892082 12013113 NOS2 nitric oxide synthase 2 gene DOID:2841 asthma ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:16540403|REF_RGD_ID:4891957 12013113 NOS2 nitric oxide synthase 2 gene DOID:2841 asthma ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:lung (rat) PMID:21847581|REF_RGD_ID:5509073 12013113 NOS2 nitric oxide synthase 2 gene DOID:2841 asthma ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19800904 12013113 NOS2 nitric oxide synthase 2 gene DOID:2841 asthma ISO RGD:730951 D RGD:9068941 20200609 RGD DNA:repeats:promoter PMID:18714530|REF_RGD_ID:4891508 12013113 NOS2 nitric oxide synthase 2 gene DOID:2841 asthma ISO RGD:730951 D RGD:9068941 20200609 RGD associated with Rhinitis, Allergic, Seasonal; protein:increased expression:nasal mucosa PMID:18254476|REF_RGD_ID:4891910 12013113 NOS2 nitric oxide synthase 2 gene DOID:2841 asthma ISO RGD:730951 D RGD:9068941 20200609 RGD mRNA:increased expression:monocyte PMID:20842520|REF_RGD_ID:4891419 12013113 NOS2 nitric oxide synthase 2 gene DOID:2841 asthma disease_progression ISO RGD:10996 D RGD:9068941 20200609 RGD protein:increased expression:lung, bronchoalveolar lavage fluid PMID:17161822|REF_RGD_ID:4891927 12013113 NOS2 nitric oxide synthase 2 gene DOID:2841 asthma no_association ISO RGD:730951 D RGD:9068941 20200609 RGD DNA:repeat:promoter PMID:16703578|REF_RGD_ID:4891953 12013113 NOS2 nitric oxide synthase 2 gene DOID:2841 asthma severity ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:20841959|REF_RGD_ID:4891480 12013113 NOS2 nitric oxide synthase 2 gene DOID:2841 asthma severity ISO RGD:730951 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.S608L (human) PMID:17177683|REF_RGD_ID:4891925 12013113 NOS2 nitric oxide synthase 2 gene DOID:2841 asthma severity ISO RGD:730951 D RGD:9068941 20200609 RGD DNA:repeats:promoter, introns (human) PMID:17189532|REF_RGD_ID:4891924 12013113 NOS2 nitric oxide synthase 2 gene DOID:2957 pulmonary tuberculosis ISO RGD:730951 D RGD:9068941 20200609 RGD DNA:SNPs:multiple (human) PMID:19575238|REF_RGD_ID:4144122 12013113 NOS2 nitric oxide synthase 2 gene DOID:3021 acute kidney failure ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9810145 12013113 NOS2 nitric oxide synthase 2 gene DOID:3082 interstitial lung disease ISO RGD:730951 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11789718|REF_RGD_ID:4891449 12013113 NOS2 nitric oxide synthase 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21843929 12013113 NOS2 nitric oxide synthase 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730951 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:12797490|REF_RGD_ID:4891444 12013113 NOS2 nitric oxide synthase 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:10996 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (mouse) PMID:21867702|REF_RGD_ID:5509065 12013113 NOS2 nitric oxide synthase 2 gene DOID:3393 coronary artery disease ISO RGD:730951 D RGD:9068941 20200609 RGD associated with Mucocutaneous Lymph Node Syndrome; protein:increased expression:neutrophil, monocyte PMID:14764920|REF_RGD_ID:1580941 12013113 NOS2 nitric oxide synthase 2 gene DOID:3491 Turner syndrome ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 12013113 NOS2 nitric oxide synthase 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:10996 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (mouse) PMID:22020035|REF_RGD_ID:5509037 12013113 NOS2 nitric oxide synthase 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:brain (rat) PMID:21959178|REF_RGD_ID:5508751 12013113 NOS2 nitric oxide synthase 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:12660813|REF_RGD_ID:2325254 12013113 NOS2 nitric oxide synthase 2 gene DOID:3770 pulmonary fibrosis ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:20668217|REF_RGD_ID:4891482 12013113 NOS2 nitric oxide synthase 2 gene DOID:409 liver disease ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12013113 NOS2 nitric oxide synthase 2 gene DOID:4483 rhinitis ISO RGD:730951 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa PMID:18254476|REF_RGD_ID:4891910 12013113 NOS2 nitric oxide synthase 2 gene DOID:4676 uremia ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:21957179|REF_RGD_ID:5508758 12013113 NOS2 nitric oxide synthase 2 gene DOID:4724 brain edema ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19374494 12013113 NOS2 nitric oxide synthase 2 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:21894146|REF_RGD_ID:6218988 12013113 NOS2 nitric oxide synthase 2 gene DOID:4947 cholangiocarcinoma ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16818635 12013113 NOS2 nitric oxide synthase 2 gene DOID:4947 cholangiocarcinoma ISO RGD:730951 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:16094703|REF_RGD_ID:2325280 12013113 NOS2 nitric oxide synthase 2 gene DOID:5199 ureteral obstruction ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26207612 12013113 NOS2 nitric oxide synthase 2 gene DOID:5295 intestinal disease ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11713966 12013113 NOS2 nitric oxide synthase 2 gene DOID:557 kidney disease ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18441258 12013113 NOS2 nitric oxide synthase 2 gene DOID:5679 retinal disease ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 12013113 NOS2 nitric oxide synthase 2 gene DOID:5844 myocardial infarction ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10090345|PMID:11489778 12013113 NOS2 nitric oxide synthase 2 gene DOID:6000 congestive heart failure ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19168511 12013113 NOS2 nitric oxide synthase 2 gene DOID:607 paraplegia ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:Lumbar segment of spinal cord, bone marrow-derived macrophage (rat) PMID:21959174|REF_RGD_ID:5509577 12013113 NOS2 nitric oxide synthase 2 gene DOID:630 genetic disease ISO RGD:730951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12013113 NOS2 nitric oxide synthase 2 gene DOID:6432 pulmonary hypertension ISO RGD:10996 D RGD:9068941 20200609 RGD associated with Anoxia; mouse gene in rat model PMID:11104748|REF_RGD_ID:4891468 12013113 NOS2 nitric oxide synthase 2 gene DOID:6432 pulmonary hypertension ISO RGD:730951 D RGD:9068941 20200609 RGD associated with Congenital diaphragmatic hernia; protein:decreased expression:pulmonary artery, endothelium PMID:16456243|REF_RGD_ID:1580940 12013113 NOS2 nitric oxide synthase 2 gene DOID:6432 pulmonary hypertension ISO RGD:730951 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic; DNA:repeats, SNPs:promoter:(CCTTT), c.-1026C>T, c.-277A>G (human) PMID:16813666|REF_RGD_ID:4891462 12013113 NOS2 nitric oxide synthase 2 gene DOID:6432 pulmonary hypertension ISO RGD:730951 D RGD:9068941 20200609 RGD associated with heart disease; protein:increased expression:endothelial cell PMID:19912632|REF_RGD_ID:5132602 12013113 NOS2 nitric oxide synthase 2 gene DOID:6432 pulmonary hypertension onset ISO RGD:3185 D RGD:9068941 20200609 RGD associated with Anoxia; protein:increased expression:pulmonary artery PMID:16113050|REF_RGD_ID:1580936 12013113 NOS2 nitric oxide synthase 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:3185 D RGD:9068941 20220520 RGD PMID:25999787|REF_RGD_ID:152177911 12013113 NOS2 nitric oxide synthase 2 gene DOID:700 mitochondrial metabolism disease ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16157314 12013113 NOS2 nitric oxide synthase 2 gene DOID:7693 abdominal aortic aneurysm ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:aorta tunica media PMID:15800493|REF_RGD_ID:1580261 12013113 NOS2 nitric oxide synthase 2 gene DOID:841 extrinsic allergic alveolitis ISO RGD:730951 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11789718|REF_RGD_ID:4891449 12013113 NOS2 nitric oxide synthase 2 gene DOID:850 lung disease ISO RGD:10996 D RGD:9068941 20200609 RGD lung injury associated with hyperoxia PMID:20497690|REF_RGD_ID:4891426 12013113 NOS2 nitric oxide synthase 2 gene DOID:850 lung disease ISO RGD:3185 D RGD:9068941 20200609 RGD acute lung injury associated with endotoxemia PMID:17324147|REF_RGD_ID:4891465 12013113 NOS2 nitric oxide synthase 2 gene DOID:850 lung disease ISO RGD:3185 D RGD:9068941 20200609 RGD associated with Granuloma; protein:increased expression:lung PMID:8952535|REF_RGD_ID:4891457 12013113 NOS2 nitric oxide synthase 2 gene DOID:850 lung disease ISO RGD:3185 D RGD:9068941 20200609 RGD associated with Hypertension, Portal; mRNA,protein:increased expression:lung PMID:11258566|REF_RGD_ID:4891454 12013113 NOS2 nitric oxide synthase 2 gene DOID:850 lung disease ISO RGD:3185 D RGD:9068941 20200609 RGD lung injury associated with Pancreatitis, Acute Necrotizing; mRNA:increased expression:lung PMID:20144956|REF_RGD_ID:4891432 12013113 NOS2 nitric oxide synthase 2 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17923197 12013113 NOS2 nitric oxide synthase 2 gene DOID:8893 psoriasis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953189 12013113 NOS2 nitric oxide synthase 2 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:730951 D RGD:9068941 20200609 RGD associated with Gallbladder Diseases; protein:decreased expression:gllbladder PMID:14704000|REF_RGD_ID:2325251 12013113 NOS2 nitric oxide synthase 2 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:730951 D RGD:9068941 20200609 RGD protein:increased expression:gallbladder PMID:14991947|REF_RGD_ID:2325250 12013113 NOS2 nitric oxide synthase 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA:altered expression:thoracic aorta PMID:17287083|REF_RGD_ID:4891407 12013113 NOS2 nitric oxide synthase 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15264214 12013113 NOS2 nitric oxide synthase 2 gene DOID:9000169 Systemic Inflammatory Response Syndrome ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:ileum, liver (rat) PMID:21975127|REF_RGD_ID:5508740 12013113 NOS2 nitric oxide synthase 2 gene DOID:9000197 Edema ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased activity:serum (rat) PMID:22019508|REF_RGD_ID:5509038 12013113 NOS2 nitric oxide synthase 2 gene DOID:9000304 Manganese Poisoning ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15010209|PMID:22174044 12013113 NOS2 nitric oxide synthase 2 gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:3185 D RGD:9068941 20200609 RGD protein:Increased expression:kidney:neutrophil, endothelial cell, kidney: PMID:10908153|REF_RGD_ID:11533936 12013113 NOS2 nitric oxide synthase 2 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:10996 D RGD:9068941 20200609 RGD mRNA:increased expression:brainstem, basilar artery (mouse) PMID:21915076|REF_RGD_ID:5509046 12013113 NOS2 nitric oxide synthase 2 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17053178 12013113 NOS2 nitric oxide synthase 2 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:3185 D RGD:9068941 20200609 RGD associated with Reperfusion Injury PMID:17607157|REF_RGD_ID:4891947 12013113 NOS2 nitric oxide synthase 2 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:3185 D RGD:9068941 20200609 RGD associated with reperfusion injury; mRNA:increased expression:lung PMID:20430162|REF_RGD_ID:4891490 12013113 NOS2 nitric oxide synthase 2 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:lung, respiratory tract PMID:11076311|REF_RGD_ID:4892083 12013113 NOS2 nitric oxide synthase 2 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:730951 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19286931|REF_RGD_ID:5132864 12013113 NOS2 nitric oxide synthase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:10996 D RGD:9068941 20200609 RGD associated with Carcinoma, Pancreatic Ductal PMID:12660813|REF_RGD_ID:2325254 12013113 NOS2 nitric oxide synthase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730951 D RGD:9068941 20200609 RGD associated with Carcinoma, Pancreatic Ductal; protein:increased expression:pancreas PMID:15222037|REF_RGD_ID:2325242 12013113 NOS2 nitric oxide synthase 2 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:730951 D RGD:9068941 20200609 RGD associated with Gallbladder Neoplasms: protein:increased expression:gallbladder PMID:14991947|REF_RGD_ID:2325250 12013113 NOS2 nitric oxide synthase 2 gene DOID:9000998 Brain Injuries ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:11526986|REF_RGD_ID:10395358 12013113 NOS2 nitric oxide synthase 2 gene DOID:9001472 Nasal Polyps ISO RGD:730951 D RGD:9068941 20200609 RGD DNA:repeats:promoter PMID:18714530|REF_RGD_ID:4891508 12013113 NOS2 nitric oxide synthase 2 gene DOID:9001472 Nasal Polyps ISO RGD:730951 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal mucosa PMID:20554417|REF_RGD_ID:5509597 12013113 NOS2 nitric oxide synthase 2 gene DOID:9001488 Human Influenza ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:17030871|REF_RGD_ID:4891952 12013113 NOS2 nitric oxide synthase 2 gene DOID:9001488 Human Influenza ISO RGD:10996 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brain PMID:18080188|REF_RGD_ID:4891937 12013113 NOS2 nitric oxide synthase 2 gene DOID:9001488 Human Influenza ISO RGD:10996 D RGD:9068941 20200609 RGD mRNA:increased expression:olfactory epithelium PMID:17674769|REF_RGD_ID:4891919 12013113 NOS2 nitric oxide synthase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:10353629|REF_RGD_ID:2325278 12013113 NOS2 nitric oxide synthase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:10784593|REF_RGD_ID:2325265 12013113 NOS2 nitric oxide synthase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18380797 12013113 NOS2 nitric oxide synthase 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:10383909|REF_RGD_ID:2325277 12013113 NOS2 nitric oxide synthase 2 gene DOID:9001708 Hemorrhagic Shock ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:multiple PMID:15854664|REF_RGD_ID:1580937 12013113 NOS2 nitric oxide synthase 2 gene DOID:9001984 Fetal Diseases ISO RGD:10996 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19283362|REF_RGD_ID:2313217 12013113 NOS2 nitric oxide synthase 2 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:17056580|REF_RGD_ID:4891950 12013113 NOS2 nitric oxide synthase 2 gene DOID:9002211 Hyperalgesia ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17989504|PMID:19300402 12013113 NOS2 nitric oxide synthase 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3185 D RGD:9068941 20200609 RGD associated with hyperinsulinemia; protein:increased expression:placenta PMID:19709742|REF_RGD_ID:5132592 12013113 NOS2 nitric oxide synthase 2 gene DOID:9002395 Hypothermia ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24675228 12013113 NOS2 nitric oxide synthase 2 gene DOID:9002457 Experimental Arthritis ISO RGD:10996 D RGD:9068941 20200609 RGD protein:increased expression:ankle joint (mouse) PMID:21880869|REF_RGD_ID:5509060 12013113 NOS2 nitric oxide synthase 2 gene DOID:9002457 Experimental Arthritis ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:12826065|REF_RGD_ID:1358527 12013113 NOS2 nitric oxide synthase 2 gene DOID:9002467 Mycoplasma Infections ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20179380 12013113 NOS2 nitric oxide synthase 2 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19587355 12013113 NOS2 nitric oxide synthase 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:21857957|REF_RGD_ID:5509069 12013113 NOS2 nitric oxide synthase 2 gene DOID:9002869 Schistosomiasis Mansoni ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9673227 12013113 NOS2 nitric oxide synthase 2 gene DOID:9002884 Emphysema ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24465666 12013113 NOS2 nitric oxide synthase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16105666|PMID:21081470 12013113 NOS2 nitric oxide synthase 2 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:10996 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa PMID:14587983|REF_RGD_ID:4892078 12013113 NOS2 nitric oxide synthase 2 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23694759 12013113 NOS2 nitric oxide synthase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:10996 D RGD:9068941 20200609 RGD protein:increased expression:venule, arteriole, endothelium (mouse) PMID:22019501|REF_RGD_ID:5509100 12013113 NOS2 nitric oxide synthase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:14599979|REF_RGD_ID:1580938 12013113 NOS2 nitric oxide synthase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11592783|REF_RGD_ID:2325259 12013113 NOS2 nitric oxide synthase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10383581|PMID:19673871|PMID:23061969|PMID:23075401 12013113 NOS2 nitric oxide synthase 2 gene DOID:9004250 Hepatic Insufficiency ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12013113 NOS2 nitric oxide synthase 2 gene DOID:9004484 Sepsis ISO RGD:10996 D RGD:9068941 20200609 RGD associated with lung injury PMID:21184738|REF_RGD_ID:4891414 12013113 NOS2 nitric oxide synthase 2 gene DOID:9004484 Sepsis ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:15665729|REF_RGD_ID:5147745 12013113 NOS2 nitric oxide synthase 2 gene DOID:9004484 Sepsis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17138957|PMID:20035746 12013113 NOS2 nitric oxide synthase 2 gene DOID:9004590 Acute Liver Failure ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:22001939|REF_RGD_ID:5509102 12013113 NOS2 nitric oxide synthase 2 gene DOID:9004610 Acute Lung Injury ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:16882535|REF_RGD_ID:5147744 12013113 NOS2 nitric oxide synthase 2 gene DOID:9005172 Lung Neoplasms ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12460898|PMID:22369883 12013113 NOS2 nitric oxide synthase 2 gene DOID:9005369 Hepatomegaly ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12013113 NOS2 nitric oxide synthase 2 gene DOID:9005372 Inflammation ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11289658|PMID:24465666 12013113 NOS2 nitric oxide synthase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3185 D RGD:9068941 20200609 RGD associated with Infarction, Middle Cerebral Artery; protein:increased expression:brain (rat) PMID:21993016|REF_RGD_ID:5509105 12013113 NOS2 nitric oxide synthase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16380483|PMID:16959961 12013113 NOS2 nitric oxide synthase 2 gene DOID:9005643 Experimental Diabetes Mellitus no_association ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus (rat) PMID:9349594|REF_RGD_ID:5509107 12013113 NOS2 nitric oxide synthase 2 gene DOID:9005724 Fungal Lung Diseases ISO RGD:3185 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:10639453|REF_RGD_ID:4891455 12013113 NOS2 nitric oxide synthase 2 gene DOID:9005749 Necrosis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10620138|PMID:10909967 12013113 NOS2 nitric oxide synthase 2 gene DOID:9005930 Endotoxemia ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:20519137|REF_RGD_ID:5147779 12013113 NOS2 nitric oxide synthase 2 gene DOID:9005930 Endotoxemia ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:intestine PMID:16787348|REF_RGD_ID:4891470 12013113 NOS2 nitric oxide synthase 2 gene DOID:9005930 Endotoxemia ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12620498 12013113 NOS2 nitric oxide synthase 2 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:nerve root, leukocyte, Schwann cell (rat) PMID:15144861|REF_RGD_ID:1580265 12013113 NOS2 nitric oxide synthase 2 gene DOID:9006741 Acute Hepatitis ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:21913985|REF_RGD_ID:6906896 12013113 NOS2 nitric oxide synthase 2 gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:730951 D RGD:9068941 20200609 RGD DNA:SNP: :rs1060826(human) PMID:17703412|REF_RGD_ID:4889847 12013113 NOS2 nitric oxide synthase 2 gene DOID:9007096 Stroke ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:21171972|REF_RGD_ID:4891154 12013113 NOS2 nitric oxide synthase 2 gene DOID:9007096 Stroke ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20083630 12013113 NOS2 nitric oxide synthase 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14700523 12013113 NOS2 nitric oxide synthase 2 gene DOID:9007651 Chronic Bronchitis ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:19938219|REF_RGD_ID:4891494 12013113 NOS2 nitric oxide synthase 2 gene DOID:9007692 Insulin Resistance ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:21846719|REF_RGD_ID:5509075 12013113 NOS2 nitric oxide synthase 2 gene DOID:9007692 Insulin Resistance ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retroperitoneum, adipose tissue (rat) PMID:22023455|REF_RGD_ID:5509041 12013113 NOS2 nitric oxide synthase 2 gene DOID:9007730 Burns ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15650120 12013113 NOS2 nitric oxide synthase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart (rat) PMID:21844074|REF_RGD_ID:5509098 12013113 NOS2 nitric oxide synthase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12003803|PMID:12087064|PMID:14990356|PMID:19207477|PMID:20828608 12013113 NOS2 nitric oxide synthase 2 gene DOID:9008 psoriatic arthritis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953189 12013113 NOS2 nitric oxide synthase 2 gene DOID:9008510 Chronic Hepatitis ISO RGD:10996 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (mouse) PMID:21947361|REF_RGD_ID:5509580 12013113 NOS2 nitric oxide synthase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15631943 12013113 NOS2 nitric oxide synthase 2 gene DOID:9009039 Hyperemia ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12646421 12013113 NOS2 nitric oxide synthase 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:10996 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow macrophage (mouse) PMID:22011580|REF_RGD_ID:5508848 12013113 NOS2 nitric oxide synthase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:10996 D RGD:9068941 20200609 RGD protein:increased expression:liver (mouse) PMID:21963495|REF_RGD_ID:5508747 12013113 NOS2 nitric oxide synthase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:18773271|REF_RGD_ID:2313220 12013113 NOS2 nitric oxide synthase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16959961 12013113 NOS2 nitric oxide synthase 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:730951 D RGD:9068941 20200609 RGD DNA:insertion/deletion, repeat:promoter (human) PMID:19395279|REF_RGD_ID:2312484 12013113 NOS2 nitric oxide synthase 2 gene DOID:9498 pulmonary eosinophilia ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:18829681|REF_RGD_ID:4891506 12013113 NOS2 nitric oxide synthase 2 gene DOID:9675 pulmonary emphysema ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:22000010|REF_RGD_ID:5509103 12013113 NOS2 nitric oxide synthase 2 gene DOID:9675 pulmonary emphysema ISO RGD:10996 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung PMID:20956973|REF_RGD_ID:4891415 12013113 NOS2 nitric oxide synthase 2 gene DOID:9675 pulmonary emphysema ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20472710|REF_RGD_ID:4891488 12013113 NOS2 nitric oxide synthase 2 gene DOID:9743 diabetic neuropathy ISO RGD:10996 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18802679|REF_RGD_ID:2313218 12013113 NOS2 nitric oxide synthase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:19535454|REF_RGD_ID:2313214 12013113 NOS2 nitric oxide synthase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:10996 D RGD:9068941 20220825 MouseDO OMIM:222100 12013113 NOS2 nitric oxide synthase 2 gene DOID:9767 myocardial stunning ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11927517 12013113 NOS2 nitric oxide synthase 2 gene DOID:9970 obesity ISO RGD:10996 D RGD:9068941 20200609 RGD protein:increased expression:liver, gastrocnemius muscle, adipose tissue (mouse) PMID:21896669|REF_RGD_ID:5509059 12013113 NOS2 nitric oxide synthase 2 gene DOID:9970 obesity ISO RGD:730951 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:18098375|REF_RGD_ID:4891935 12013142 KIFC1 kinesin family member C1 gene DOID:0050553 JMP syndrome ISO RGD:1349353 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12013142 KIFC1 kinesin family member C1 gene DOID:0060041 autism spectrum disorder ISO RGD:1349353 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12013142 KIFC1 kinesin family member C1 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1349353 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 12013142 KIFC1 kinesin family member C1 gene DOID:0080600 COVID-19 ISO RGD:1349353 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12013142 KIFC1 kinesin family member C1 gene DOID:630 genetic disease ISO RGD:1349353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12013142 KIFC1 kinesin family member C1 gene DOID:684 hepatocellular carcinoma ISO RGD:1349353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12013142 KIFC1 kinesin family member C1 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1349353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26177331 12013160 CFAP61 cilia and flagella associated protein 61 gene DOID:0070311 oligoasthenoteratozoospermia ISO RGD:1618265 D RGD:9068941 20230413 MouseDO 12013160 CFAP61 cilia and flagella associated protein 61 gene DOID:630 genetic disease ISO RGD:1323021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12013191 ATG5 autophagy related 5 gene DOID:0080259 autosomal recessive spinocerebellar ataxia 25 ISO RGD:1353398 D RGD:7240710 20190315 OMIM 12013191 ATG5 autophagy related 5 gene DOID:0080259 autosomal recessive spinocerebellar ataxia 25 ISO RGD:1353398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 25 PMID:15981765|PMID:26812546 12013191 ATG5 autophagy related 5 gene DOID:2355 anemia ISO RGD:1353398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26568842 12013191 ATG5 autophagy related 5 gene DOID:326 ischemia ISO RGD:1359580 D RGD:9068941 20200609 RGD PMID:25435100|REF_RGD_ID:11561945 12013191 ATG5 autophagy related 5 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1556965 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:23851366|REF_RGD_ID:11561951 12013191 ATG5 autophagy related 5 gene DOID:5082 liver cirrhosis ISO RGD:1353398 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33549628 12013191 ATG5 autophagy related 5 gene DOID:614 lymphopenia ISO RGD:1353398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26568842 12013191 ATG5 autophagy related 5 gene DOID:630 genetic disease ISO RGD:1353398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12013191 ATG5 autophagy related 5 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1353398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 12013191 ATG5 autophagy related 5 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1359580 D RGD:9068941 20200609 RGD protein:increased expression:axon PMID:25040536|REF_RGD_ID:11553820 12013191 ATG5 autophagy related 5 gene DOID:9001981 Weight Loss ISO RGD:1353398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26568842 12013191 ATG5 autophagy related 5 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1353398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28408137 12013191 ATG5 autophagy related 5 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1359580 D RGD:9068941 20200609 RGD PMID:24998254|REF_RGD_ID:11561938 12013191 ATG5 autophagy related 5 gene DOID:9005369 Hepatomegaly ISO RGD:1353398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22491424 12013191 ATG5 autophagy related 5 gene DOID:9005749 Necrosis ISO RGD:1353398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20578144 12013191 ATG5 autophagy related 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22491424 12013191 ATG5 autophagy related 5 gene DOID:9008617 Lethargy ISO RGD:1353398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26568842 12013191 ATG5 autophagy related 5 gene DOID:9074 systemic lupus erythematosus ISO RGD:1556965 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12013211 DRGX dorsal root ganglia homeobox gene DOID:11372 megacolon ISO RGD:1353814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12013211 DRGX dorsal root ganglia homeobox gene DOID:5419 schizophrenia ISO RGD:1353814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12013219 STXBP2 syntaxin binding protein 2 gene DOID:0080490 mucolipidosis type IV ISO RGD:733592 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12013219 STXBP2 syntaxin binding protein 2 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:733592 D RGD:7240710 20180130 OMIM 12013219 STXBP2 syntaxin binding protein 2 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:733592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:10788461|PMID:16199547|PMID:17576681|PMID:19804848|PMID:19884660|PMID:20558610|PMID:20798128|PMID:20823128|PMID:21881043|PMID:22336081|PMID:22451424|PMID:22791290|PMID:22796692|PMID:23382066|PMID:23687090|PMID:24033266|PMID:24194549|PMID:24916509|PMID:25564401|PMID:25741868|PMID:25901543|PMID:26451869|PMID:26684649|PMID:27209435|PMID:27379089|PMID:27577878|PMID:27781387|PMID:27848944|PMID:28353193|PMID:28380445|PMID:28399723|PMID:28492532|PMID:28724787|PMID:28748566|PMID:29599780|PMID:29665027|PMID:30104219|PMID:30697212|PMID:30899265|PMID:31130284|PMID:31388699|PMID:31976148|PMID:32256442|PMID:32542393|PMID:33162974|PMID:33746956|PMID:34050687|PMID:34249802|PMID:36588876|PMID:9536098 12013219 STXBP2 syntaxin binding protein 2 gene DOID:2213 hemorrhagic disease ISO RGD:733592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:24916509|PMID:25741868|PMID:28399723|PMID:28492532|PMID:32256442|PMID:34050687|PMID:36588876 12013219 STXBP2 syntaxin binding protein 2 gene DOID:2218 blood platelet disease ISO RGD:733592 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30696774 12013219 STXBP2 syntaxin binding protein 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:733592 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:19804848|PMID:19884660|PMID:20558610|PMID:20798128|PMID:20823128|PMID:21881043|PMID:22451424|PMID:23687090|PMID:24033266|PMID:24194549|PMID:24916509|PMID:25741868|PMID:27577878|PMID:28492532|PMID:29665027|PMID:32542393|PMID:34050687 12013219 STXBP2 syntaxin binding protein 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:733592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:19804848|PMID:19884660|PMID:20558610|PMID:20798128|PMID:20823128|PMID:21881043|PMID:22451424|PMID:23687090|PMID:24033266|PMID:24194549|PMID:24916509|PMID:25741868|PMID:27577878|PMID:27781387|PMID:28492532|PMID:29665027|PMID:32256442|PMID:32542393|PMID:34050687|PMID:34249802|PMID:36588876 12013219 STXBP2 syntaxin binding protein 2 gene DOID:3410 carotid artery thrombosis ISO RGD:733592 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30696774 12013219 STXBP2 syntaxin binding protein 2 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:733592 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Complex IV deficiency PMID:24462369|PMID:25293719|PMID:25741868|PMID:32313153 12013219 STXBP2 syntaxin binding protein 2 gene DOID:630 genetic disease ISO RGD:733592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12013219 STXBP2 syntaxin binding protein 2 gene DOID:9004404 Familial Hemophagocytic Lymphohistiocytoses ISO RGD:733592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis | ClinVar Annotator: match by term: Familial histiocytic reticulosis PMID:16199547|PMID:19804848|PMID:19884660|PMID:20558610|PMID:20823128|PMID:22451424|PMID:22791290|PMID:23687090|PMID:24033266|PMID:24194549|PMID:24916509|PMID:25564401|PMID:25741868|PMID:27577878|PMID:28492532|PMID:32256442|PMID:32542393|PMID:33746956|PMID:34050687|PMID:36588876 12013219 STXBP2 syntaxin binding protein 2 gene DOID:9004872 Congenital Infantile Lactic Acidosis ISO RGD:733592 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital lactic acidosis PMID:25293719|PMID:25741868 12013219 STXBP2 syntaxin binding protein 2 gene DOID:9006173 Mitochondrial Complex IV Deficiency, Nuclear Type 12 ISO RGD:733592 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 PMID:17576681|PMID:24462369|PMID:25293719|PMID:25741868|PMID:28492532|PMID:32313153|PMID:9536098 12013219 STXBP2 syntaxin binding protein 2 gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:733592 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:24462369|PMID:25293719|PMID:25741868|PMID:32313153 12013219 STXBP2 syntaxin binding protein 2 gene DOID:9008217 Hemorrhage ISO RGD:733592 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30696774 12013260 LAIR1 leukocyte associated immunoglobulin like receptor 1 gene DOID:0080600 COVID-19 ISO RGD:1344054 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12013260 LAIR1 leukocyte associated immunoglobulin like receptor 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1344054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 12013260 LAIR1 leukocyte associated immunoglobulin like receptor 1 gene DOID:630 genetic disease ISO RGD:1344054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12013278 EMSY EMSY transcriptional repressor, BRCA2 interacting gene DOID:1059 intellectual disability ISO RGD:1345109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12013278 EMSY EMSY transcriptional repressor, BRCA2 interacting gene DOID:11612 polycystic ovary syndrome ISO RGD:1345109 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12013278 EMSY EMSY transcriptional repressor, BRCA2 interacting gene DOID:3310 atopic dermatitis ISO RGD:1345109 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23042114 12013278 EMSY EMSY transcriptional repressor, BRCA2 interacting gene DOID:630 genetic disease ISO RGD:1345109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12013278 EMSY EMSY transcriptional repressor, BRCA2 interacting gene DOID:9005539 Familial Prostate Cancer ISO RGD:1345109 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12013278 EMSY EMSY transcriptional repressor, BRCA2 interacting gene DOID:9008939 Breast Neoplasms ISO RGD:1345109 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19636701 12013301 ZNF697 zinc finger protein 697 gene DOID:0050722 PHGDH deficiency ISO RGD:1603938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:14645240|PMID:24836451|PMID:28492532 12013301 ZNF697 zinc finger protein 697 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:1603938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 12013301 ZNF697 zinc finger protein 697 gene DOID:630 genetic disease ISO RGD:1603938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12013309 ATP8A2 ATPase phospholipid transporting 8A2 gene DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome ISO RGD:1344629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysequilibrium syndrome PMID:25741868 12013309 ATP8A2 ATPase phospholipid transporting 8A2 gene DOID:1826 epilepsy ISO RGD:1344629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12013309 ATP8A2 ATPase phospholipid transporting 8A2 gene DOID:630 genetic disease ISO RGD:1344629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28454995|PMID:28492532|PMID:29531481|PMID:31612321 12013309 ATP8A2 ATPase phospholipid transporting 8A2 gene DOID:9006313 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 ISO RGD:1344629 D RGD:7240710 20180130 OMIM 12013309 ATP8A2 ATPase phospholipid transporting 8A2 gene DOID:9006313 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 ISO RGD:1344629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 PMID:16199547|PMID:18326629|PMID:22892528|PMID:25741868|PMID:28454995|PMID:28492532|PMID:29531481|PMID:31397519|PMID:31612321 12013353 DHX30 DExH-box helicase 30 gene DOID:12849 autistic disorder ISO RGD:1318916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:28327206|PMID:29100085|PMID:32581362 12013353 DHX30 DExH-box helicase 30 gene DOID:1826 epilepsy ISO RGD:1318916 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:29100085 12013353 DHX30 DExH-box helicase 30 gene DOID:630 genetic disease ISO RGD:1318916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:29100085 12013353 DHX30 DExH-box helicase 30 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12013353 DHX30 DExH-box helicase 30 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1318916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12013353 DHX30 DExH-box helicase 30 gene DOID:9008086 Developmental Disabilities ISO RGD:1318916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28327206|PMID:29100085|PMID:32581362 12013353 DHX30 DExH-box helicase 30 gene DOID:9008363 GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT ISO RGD:1318916 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay with or without impaired intellectual development PMID:25741868 12013353 DHX30 DExH-box helicase 30 gene DOID:9009099 NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE ISO RGD:1318916 D RGD:7240710 20190315 OMIM 12013353 DHX30 DExH-box helicase 30 gene DOID:9009099 NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE ISO RGD:1318916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with severe motor impairment and absent language PMID:25741868|PMID:28327206|PMID:28492532|PMID:29100085|PMID:32581362|PMID:34020708 12013395 PCDHB5 protocadherin beta 5 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1314555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12013395 PCDHB5 protocadherin beta 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314555 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12013395 PCDHB5 protocadherin beta 5 gene DOID:630 genetic disease ISO RGD:1314555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12013395 PCDHB5 protocadherin beta 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12013395 PCDHB5 protocadherin beta 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314555 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12013400 PDCL2 phosducin like 2 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1344096 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 12013400 PDCL2 phosducin like 2 gene DOID:630 genetic disease ISO RGD:1344096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12013438 CAPN9 calpain 9 gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:731611 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 12013438 CAPN9 calpain 9 gene DOID:10534 stomach cancer ISO RGD:731611 D RGD:9068941 20200609 RGD PMID:10835488|REF_RGD_ID:734688 12013438 CAPN9 calpain 9 gene DOID:1540 parathyroid carcinoma ISO RGD:731611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12013438 CAPN9 calpain 9 gene DOID:630 genetic disease ISO RGD:731611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12013438 CAPN9 calpain 9 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:731611 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 12013438 CAPN9 calpain 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12013479 RARB retinoic acid receptor beta gene DOID:0060041 autism spectrum disorder ISO RGD:737497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31209396 12013479 RARB retinoic acid receptor beta gene DOID:0060728 NGLY1-deficiency ISO RGD:737497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of deglycosylation PMID:24651605|PMID:28492532 12013479 RARB retinoic acid receptor beta gene DOID:0111800 syndromic microphthalmia 12 ISO RGD:737497 D RGD:7240710 20180130 OMIM 12013479 RARB retinoic acid receptor beta gene DOID:0111800 syndromic microphthalmia 12 ISO RGD:737497 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Microphthalmia, syndromic 12 PMID:14973393|PMID:17506106|PMID:24075189|PMID:24651605|PMID:25457163|PMID:25741868|PMID:27120018|PMID:28492532 12013479 RARB retinoic acid receptor beta gene DOID:10629 microphthalmia ISO RGD:737497 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Microphthalmia PMID:25741868 12013479 RARB retinoic acid receptor beta gene DOID:11446 sciatic neuropathy ISO RGD:737497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16782282 12013479 RARB retinoic acid receptor beta gene DOID:12270 coloboma ISO RGD:737497 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:25741868 12013479 RARB retinoic acid receptor beta gene DOID:1749 squamous cell carcinoma ISO RGD:737497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17549354 12013479 RARB retinoic acid receptor beta gene DOID:289 endometriosis ISO RGD:737497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 12013479 RARB retinoic acid receptor beta gene DOID:299 adenocarcinoma ISO RGD:737497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14656941 12013479 RARB retinoic acid receptor beta gene DOID:3908 lung non-small cell carcinoma ISO RGD:737497 D RGD:9068941 20200609 RGD DNA:hypermethylation:lung PMID:18349282|PMID:23599765|REF_RGD_ID:13503323|REF_RGD_ID:13503324 12013479 RARB retinoic acid receptor beta gene DOID:3910 lung adenocarcinoma ISO RGD:737497 D RGD:9068941 20200609 RGD DNA:hypomethylation:lung PMID:26695082|REF_RGD_ID:13464334 12013479 RARB retinoic acid receptor beta gene DOID:5409 lung small cell carcinoma ISO RGD:737497 D RGD:9068941 20200609 RGD DNA:methylation: : PMID:29851970|REF_RGD_ID:13825142 12013479 RARB retinoic acid receptor beta gene DOID:630 genetic disease ISO RGD:737497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14973393|PMID:17506106|PMID:24075189|PMID:25457163|PMID:25741868|PMID:27120018|PMID:28492532 12013479 RARB retinoic acid receptor beta gene DOID:7596 asbestos-related lung carcinoma ISO RGD:737497 D RGD:9068941 20200609 RGD DNA:hypomethylation:lung PMID:28722770|REF_RGD_ID:13503322 12013479 RARB retinoic acid receptor beta gene DOID:9000217 Stomach Neoplasms ISO RGD:737497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16134180 12013479 RARB retinoic acid receptor beta gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17961338 12013479 RARB retinoic acid receptor beta gene DOID:9005172 Lung Neoplasms ISO RGD:737497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14656941 12013479 RARB retinoic acid receptor beta gene DOID:9006169 Head and Neck Neoplasms ISO RGD:737497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17549354 12013479 RARB retinoic acid receptor beta gene DOID:9008939 Breast Neoplasms ISO RGD:737497 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16255778 12013491 CFAP70 cilia and flagella associated protein 70 gene DOID:0111912 spermatogenic failure 41 ISO RGD:1316851 D RGD:7240710 20191211 OMIM 12013491 CFAP70 cilia and flagella associated protein 70 gene DOID:0111912 spermatogenic failure 41 ISO RGD:1316851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 41 PMID:31621862 12013491 CFAP70 cilia and flagella associated protein 70 gene DOID:630 genetic disease ISO RGD:1316851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12013527 CKM creatine kinase, M-type gene DOID:326 ischemia ISO RGD:737472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21912612 12013527 CKM creatine kinase, M-type gene DOID:5844 myocardial infarction ISO RGD:737472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12359538|PMID:3279722 12013527 CKM creatine kinase, M-type gene DOID:630 genetic disease ISO RGD:737472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12013527 CKM creatine kinase, M-type gene DOID:9001686 Acute Coronary Syndrome ISO RGD:737472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15966572 12013527 CKM creatine kinase, M-type gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:737472 D RGD:9068941 20200609 RGD PMID:12039490|REF_RGD_ID:1598441 12013527 CKM creatine kinase, M-type gene DOID:9002928 Colonic Neoplasms ISO RGD:737472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12013527 CKM creatine kinase, M-type gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:737472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11406506 12013539 THEGL theg spermatid protein like gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:5688605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:28492532 12013552 STRIP1 striatin interacting protein 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1352338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12013552 STRIP1 striatin interacting protein 1 gene DOID:12849 autistic disorder ISO RGD:1352338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12013552 STRIP1 striatin interacting protein 1 gene DOID:630 genetic disease ISO RGD:1352338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12013579 ACSM3 acyl-CoA synthetase medium chain family member 3 gene DOID:10763 hypertension ISO RGD:62086 D RGD:9068941 20200609 RGD PMID:8094726|PMID:8507454|REF_RGD_ID:61050|REF_RGD_ID:634023 12013579 ACSM3 acyl-CoA synthetase medium chain family member 3 gene DOID:10825 essential hypertension no_association ISO RGD:735798 D RGD:9068941 20200609 RGD PMID:11592044|REF_RGD_ID:1579978 12013579 ACSM3 acyl-CoA synthetase medium chain family member 3 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:735798 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:12484505|REF_RGD_ID:7241283 12013579 ACSM3 acyl-CoA synthetase medium chain family member 3 gene DOID:630 genetic disease ISO RGD:735798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12013579 ACSM3 acyl-CoA synthetase medium chain family member 3 gene DOID:8577 ulcerative colitis ISO RGD:735798 D RGD:9068941 20200609 RGD mRNA:decreased expression:colonic mucosa PMID:21987487|REF_RGD_ID:7241281 12013579 ACSM3 acyl-CoA synthetase medium chain family member 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 12013579 ACSM3 acyl-CoA synthetase medium chain family member 3 gene DOID:9002569 Overweight ISO RGD:735798 D RGD:9068941 20200609 RGD associated with Hypertension, Essential;DNA:polymorphism:intron: PMID:14567496|REF_RGD_ID:7241282 12013579 ACSM3 acyl-CoA synthetase medium chain family member 3 gene DOID:9004131 NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES ISO RGD:735798 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with speech delay and variable ocular anomalies PMID:25741868|PMID:30237576|PMID:35196516 12013579 ACSM3 acyl-CoA synthetase medium chain family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735798 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30237576|PMID:35196516 12013579 ACSM3 acyl-CoA synthetase medium chain family member 3 gene DOID:9282 ocular hypertension ISO RGD:62086 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina, muller cell PMID:17102796|REF_RGD_ID:1601004 12013598 DLX5 distal-less homeobox 5 gene DOID:0080006 bone development disease ISO RGD:733723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10433909 12013598 DLX5 distal-less homeobox 5 gene DOID:0090020 split hand-foot malformation ISO RGD:733723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12013598 DLX5 distal-less homeobox 5 gene DOID:0090021 split hand-foot malformation 1 ISO RGD:733723 D RGD:7240710 20200520 OMIM 12013598 DLX5 distal-less homeobox 5 gene DOID:0090021 split hand-foot malformation 1 ISO RGD:733723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 1 PMID:24496061|PMID:25196357 12013598 DLX5 distal-less homeobox 5 gene DOID:0090024 split hand-foot malformation 1 with sensorineural hearing loss ISO RGD:733723 D RGD:7240710 20180130 OMIM 12013598 DLX5 distal-less homeobox 5 gene DOID:0090024 split hand-foot malformation 1 with sensorineural hearing loss ISO RGD:733723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss PMID:22121204 12013598 DLX5 distal-less homeobox 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12013598 DLX5 distal-less homeobox 5 gene DOID:630 genetic disease ISO RGD:733723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12013598 DLX5 distal-less homeobox 5 gene DOID:9003996 Birth Weight ISO RGD:733723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31082282 12013598 DLX5 distal-less homeobox 5 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10433909|PMID:10433912|PMID:14666512 12013605 MMP3 matrix metallopeptidase 3 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1345848 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28434932 12013605 MMP3 matrix metallopeptidase 3 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1345848 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:21871427|REF_RGD_ID:8694097 12013605 MMP3 matrix metallopeptidase 3 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1345848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 12013605 MMP3 matrix metallopeptidase 3 gene DOID:0060224 atrial fibrillation ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:20935575|REF_RGD_ID:8693675 12013605 MMP3 matrix metallopeptidase 3 gene DOID:0060903 thrombosis ISO RGD:1345848 D RGD:9068941 20200609 RGD associated with Arteriovenous Fistula;DNA:insertion:promoter:g.-1612insA (rs35068180) (human) PMID:20616161|REF_RGD_ID:7207048 12013605 MMP3 matrix metallopeptidase 3 gene DOID:0080855 Parkinsonism treatment ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:22498097|REF_RGD_ID:8693688 12013605 MMP3 matrix metallopeptidase 3 gene DOID:0080933 immunoglobulin light chain amyloidosis ISO RGD:1345848 D RGD:9068941 20200609 RGD protein:increased expression:renal glomeruli (human) PMID:16164636|REF_RGD_ID:7207084 12013605 MMP3 matrix metallopeptidase 3 gene DOID:10140 dry eye syndrome ISO RGD:733756 D RGD:9068941 20200609 RGD protein:increased expression:corneal epithelium PMID:22590618|REF_RGD_ID:8662938 12013605 MMP3 matrix metallopeptidase 3 gene DOID:1059 intellectual disability ISO RGD:1345848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12013605 MMP3 matrix metallopeptidase 3 gene DOID:10608 celiac disease ISO RGD:1345848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 12013605 MMP3 matrix metallopeptidase 3 gene DOID:10808 gastric ulcer ISO RGD:621317 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach PMID:15375341|REF_RGD_ID:10043177 12013605 MMP3 matrix metallopeptidase 3 gene DOID:10983 Alport syndrome ISO RGD:1345848 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:16509766|REF_RGD_ID:7241252 12013605 MMP3 matrix metallopeptidase 3 gene DOID:10983 Alport syndrome ISO RGD:733756 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:16509766|REF_RGD_ID:7241252 12013605 MMP3 matrix metallopeptidase 3 gene DOID:1222 cartilage disease ISO RGD:621317 D RGD:9068941 20200609 RGD mRNA:increased expression:articular cartilage PMID:20153826|REF_RGD_ID:2325860 12013605 MMP3 matrix metallopeptidase 3 gene DOID:12236 primary biliary cholangitis treatment ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:20056896|REF_RGD_ID:8552731 12013605 MMP3 matrix metallopeptidase 3 gene DOID:12704 ataxia telangiectasia ISO RGD:1345848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12013605 MMP3 matrix metallopeptidase 3 gene DOID:12894 Sjogren's syndrome ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:19332626|REF_RGD_ID:8693671 12013605 MMP3 matrix metallopeptidase 3 gene DOID:13001 carotid stenosis ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:12364729|REF_RGD_ID:1580553 12013605 MMP3 matrix metallopeptidase 3 gene DOID:13139 crescentic glomerulonephritis ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:11095647|REF_RGD_ID:7241255 12013605 MMP3 matrix metallopeptidase 3 gene DOID:1324 lung cancer ISO RGD:1345848 D RGD:9068941 20200609 RGD protein:decreased expression:pleural fluid PMID:20216542|REF_RGD_ID:5129491 12013605 MMP3 matrix metallopeptidase 3 gene DOID:14175 von Hippel-Lindau disease onset ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:19551141|REF_RGD_ID:7241233 12013605 MMP3 matrix metallopeptidase 3 gene DOID:1561 cognitive disorder ISO RGD:621317 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:22363061|REF_RGD_ID:8694114 12013605 MMP3 matrix metallopeptidase 3 gene DOID:1612 breast cancer ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:17058024|REF_RGD_ID:8693321 12013605 MMP3 matrix metallopeptidase 3 gene DOID:219 colon cancer treatment ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:20043115|REF_RGD_ID:2316492 12013605 MMP3 matrix metallopeptidase 3 gene DOID:2349 arteriosclerosis ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:15823277|REF_RGD_ID:1580550 12013605 MMP3 matrix metallopeptidase 3 gene DOID:2508 Takayasu's arteritis treatment ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:23100088|REF_RGD_ID:8693315 12013605 MMP3 matrix metallopeptidase 3 gene DOID:2921 glomerulonephritis ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:15034162|REF_RGD_ID:7241253 12013605 MMP3 matrix metallopeptidase 3 gene DOID:2921 glomerulonephritis ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:23224597|REF_RGD_ID:8694105 12013605 MMP3 matrix metallopeptidase 3 gene DOID:2957 pulmonary tuberculosis ISO RGD:1345848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24890593 12013605 MMP3 matrix metallopeptidase 3 gene DOID:3042 allergic contact dermatitis ISO RGD:621317 D RGD:9068941 20200609 RGD mRNA:increased expression:skin, lymph node PMID:16977379|REF_RGD_ID:2325935 12013605 MMP3 matrix metallopeptidase 3 gene DOID:3042 allergic contact dermatitis ISO RGD:733756 D RGD:9068941 20200609 RGD PMID:10359808|REF_RGD_ID:8693317 12013605 MMP3 matrix metallopeptidase 3 gene DOID:3069 malignant astrocytoma ISO RGD:1345848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20188714 12013605 MMP3 matrix metallopeptidase 3 gene DOID:3319 lymphangioleiomyomatosis treatment ISO RGD:733756 D RGD:9068941 20200609 RGD PMID:23035046|REF_RGD_ID:8693678 12013605 MMP3 matrix metallopeptidase 3 gene DOID:3393 coronary artery disease ISO RGD:1345848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8662692 12013605 MMP3 matrix metallopeptidase 3 gene DOID:3393 coronary artery disease ISO RGD:1345848 D RGD:9068941 20200609 RGD DNA:insertion, haplotype:promoter:g.-1613insA rs3025058 (human) PMID:17893005|REF_RGD_ID:7207049 12013605 MMP3 matrix metallopeptidase 3 gene DOID:3393 coronary artery disease ISO RGD:1345848 D RGD:9068941 20200609 RGD associated with Mucocutaneous Lymph Node Syndrome PMID:16100452|REF_RGD_ID:8693322 12013605 MMP3 matrix metallopeptidase 3 gene DOID:3770 pulmonary fibrosis ISO RGD:733756 D RGD:9068941 20200609 RGD PMID:21871427|REF_RGD_ID:8694097 12013605 MMP3 matrix metallopeptidase 3 gene DOID:418 systemic scleroderma ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:15498049|REF_RGD_ID:8693674 12013605 MMP3 matrix metallopeptidase 3 gene DOID:418 systemic scleroderma severity ISO RGD:1345848 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12051403|REF_RGD_ID:8693663 12013605 MMP3 matrix metallopeptidase 3 gene DOID:4247 coronary restenosis ISO RGD:1345848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8662692 12013605 MMP3 matrix metallopeptidase 3 gene DOID:4250 conjunctivochalasis ISO RGD:1345848 D RGD:9068941 20200609 RGD protein:increased expression:conjunctiva PMID:20019361|REF_RGD_ID:8693314 12013605 MMP3 matrix metallopeptidase 3 gene DOID:4450 renal cell carcinoma ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:19551141|REF_RGD_ID:7241233 12013605 MMP3 matrix metallopeptidase 3 gene DOID:4450 renal cell carcinoma ISO RGD:1345848 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E45K rs679620 (human) PMID:15319295|REF_RGD_ID:7207067 12013605 MMP3 matrix metallopeptidase 3 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1345848 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1613insA rs3025058 (human) PMID:19321798|REF_RGD_ID:7207058 12013605 MMP3 matrix metallopeptidase 3 gene DOID:574 peripheral nervous system disease ISO RGD:1345848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18754875 12013605 MMP3 matrix metallopeptidase 3 gene DOID:5844 myocardial infarction ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:15467919|REF_RGD_ID:1580551 12013605 MMP3 matrix metallopeptidase 3 gene DOID:6000 congestive heart failure ISO RGD:1345848 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle, plasma PMID:20606426|REF_RGD_ID:8694112 12013605 MMP3 matrix metallopeptidase 3 gene DOID:630 genetic disease ISO RGD:1345848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12013605 MMP3 matrix metallopeptidase 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:11796404|REF_RGD_ID:7241254 12013605 MMP3 matrix metallopeptidase 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1345848 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:7639798|REF_RGD_ID:7207128 12013605 MMP3 matrix metallopeptidase 3 gene DOID:7148 rheumatoid arthritis disease_progression ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:22314025|REF_RGD_ID:8693673 12013605 MMP3 matrix metallopeptidase 3 gene DOID:7693 abdominal aortic aneurysm ISO RGD:621317 D RGD:9068941 20200609 RGD protein:increased expression:aorta (rat) PMID:15238617|REF_RGD_ID:1302825 12013605 MMP3 matrix metallopeptidase 3 gene DOID:783 end stage renal disease severity ISO RGD:1345848 D RGD:9068941 20200609 RGD DNA:insertion, haplotype:promoter:g.-1613insA (human) PMID:19221176|REF_RGD_ID:7207064 12013605 MMP3 matrix metallopeptidase 3 gene DOID:824 periodontitis ISO RGD:621317 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19961752|REF_RGD_ID:2325862 12013605 MMP3 matrix metallopeptidase 3 gene DOID:83 cataract ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:17062942|REF_RGD_ID:8693669 12013605 MMP3 matrix metallopeptidase 3 gene DOID:8398 osteoarthritis ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:16128596|REF_RGD_ID:7207089 12013605 MMP3 matrix metallopeptidase 3 gene DOID:8398 osteoarthritis ISO RGD:1345848 D RGD:9068941 20200609 RGD protein:increased expression:synovial fluid (human) PMID:15194590|REF_RGD_ID:7207131 12013605 MMP3 matrix metallopeptidase 3 gene DOID:853 polymyalgia rheumatica ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:11796404|REF_RGD_ID:7241254 12013605 MMP3 matrix metallopeptidase 3 gene DOID:90 degenerative disc disease ISO RGD:621317 D RGD:9068941 20200609 RGD mRNA:increased expression:intervertebral disc PMID:20948465|REF_RGD_ID:8661231 12013605 MMP3 matrix metallopeptidase 3 gene DOID:90 degenerative disc disease treatment ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:20472983|REF_RGD_ID:2325859 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1345848 D RGD:9068941 20200609 RGD associated with breast cancer;DNA:deletion:promoter:-1170_-1172delA (human) PMID:15161710|REF_RGD_ID:8662937 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9000528 Coronary Disease ISO RGD:1345848 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Coronary heart disease, susceptibility to, 6 PMID:10190398|PMID:10351963|PMID:12477941|PMID:12485468|PMID:7727178|PMID:8662692|PMID:9699891 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1345848 D RGD:7240710 20190502 OMIM 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9000656 Penetrating Wounds ISO RGD:621317 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:21649785|REF_RGD_ID:8694117 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9000955 Acute Otitis Media ISO RGD:733756 D RGD:9068941 20210611 RGD mRNA:increased expression:middle ear (mouse) PMID:21889218|REF_RGD_ID:127284853 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:621317 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Animal;protein:increased expression:brain PMID:16158251|REF_RGD_ID:8547884 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:17027671|REF_RGD_ID:2325934 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:17094476|REF_RGD_ID:2325929 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:22845765|REF_RGD_ID:7241226 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1345848 D RGD:9068941 20200609 RGD protein: decreased expression: glomerulus PMID:9211353|REF_RGD_ID:7241249 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9002211 Hyperalgesia ISO RGD:1345848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18754875 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9002211 Hyperalgesia ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:22056600|REF_RGD_ID:8693664 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9002331 Knee Osteoarthritis treatment ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:22114772|REF_RGD_ID:8694098 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9002457 Experimental Arthritis ISO RGD:1345848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20974942 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9002457 Experimental Arthritis ISO RGD:621317 D RGD:9068941 20200609 RGD mRNA:increased expression:ankle joint PMID:24244039|REF_RGD_ID:8694124 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9002457 Experimental Arthritis ISO RGD:733756 D RGD:9068941 20200609 RGD PMID:20703013|REF_RGD_ID:7241231 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:21679445|PMID:24011916|REF_RGD_ID:8549748|REF_RGD_ID:8693318 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:733756 D RGD:9068941 20200609 RGD PMID:24244039|REF_RGD_ID:8694124 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1345848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17971790 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:21038694|REF_RGD_ID:8694100 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9003871 Venous Thrombosis ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:20515599|REF_RGD_ID:2325775 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9004009 Reperfusion Injury ISO RGD:621317 D RGD:9068941 20200609 RGD protein:increased protein, activity:brain PMID:15099024|REF_RGD_ID:2325962 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9004283 Transplant Rejection ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:22845765|REF_RGD_ID:7241226 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1345848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20188714|PMID:26284488 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9005175 Ulcer ISO RGD:1345848 D RGD:9068941 20200609 RGD associated with Melanoma PMID:15750195|REF_RGD_ID:8693676 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:10428026|REF_RGD_ID:8662909 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9005930 Endotoxemia ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:17083784|REF_RGD_ID:2290426 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9006182 Carotid Artery Injuries ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:9327785|REF_RGD_ID:8547910 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9007096 Stroke treatment ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:24194350|REF_RGD_ID:8694111 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9007590 Gouty Arthritis ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:11796404|REF_RGD_ID:7241254 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9008 psoriatic arthritis ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:11796404|REF_RGD_ID:7241254 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9008331 Tendon Injuries ISO RGD:621317 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;mRNA:decreased expression:tendon PMID:23042903|REF_RGD_ID:8694102 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9008443 Colorectal Neoplasms susceptibility ISO RGD:1345848 D RGD:9068941 20200609 RGD DNA:insertion, haplotype:promoter:g.-1612insA (human) PMID:17125518|REF_RGD_ID:7207065 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1345848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9351 diabetes mellitus ISO RGD:1345848 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:11159210|REF_RGD_ID:8693313 12013605 MMP3 matrix metallopeptidase 3 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:23204894|REF_RGD_ID:8694120 12013679 COL8A2 collagen type VIII alpha 2 chain gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1313058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12013679 COL8A2 collagen type VIII alpha 2 chain gene DOID:0110856 posterior polymorphous corneal dystrophy 2 ISO RGD:1313058 D RGD:7240710 20180130 OMIM 12013679 COL8A2 collagen type VIII alpha 2 chain gene DOID:0110856 posterior polymorphous corneal dystrophy 2 ISO RGD:1313058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 2 PMID:11689488|PMID:15914606|PMID:18024822|PMID:22002996|PMID:23422828|PMID:25741868|PMID:399801 12013679 COL8A2 collagen type VIII alpha 2 chain gene DOID:11555 Fuchs' endothelial dystrophy ISO RGD:1313059 D RGD:9068941 20220825 MouseDO OMIM:136800 | OMIM:610158 | OMIM:613267 | OMIM:613268 | OMIM:613269 | OMIM:613270 | OMIM:613271 | OMIM:615523 12013679 COL8A2 collagen type VIII alpha 2 chain gene DOID:630 genetic disease ISO RGD:1313058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12013679 COL8A2 collagen type VIII alpha 2 chain gene DOID:9000137 Corneal Dystrophy, Fuchs' Endothelial, 1 ISO RGD:1313058 D RGD:7240710 20180130 OMIM 12013679 COL8A2 collagen type VIII alpha 2 chain gene DOID:9000137 Corneal Dystrophy, Fuchs' Endothelial, 1 ISO RGD:1313058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 1 PMID:11689488|PMID:15914606|PMID:18024822|PMID:22002996|PMID:23422828|PMID:25741868|PMID:399801 12013686 CHN2 chimerin 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1350256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12013686 CHN2 chimerin 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12013686 CHN2 chimerin 2 gene DOID:5419 schizophrenia ISO RGD:1350256 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12013686 CHN2 chimerin 2 gene DOID:630 genetic disease ISO RGD:1350256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12013686 CHN2 chimerin 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1350256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12013711 LAG3 lymphocyte activating 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1344873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12013711 LAG3 lymphocyte activating 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1344873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12013711 LAG3 lymphocyte activating 3 gene DOID:0111621 Temtamy syndrome ISO RGD:1344873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12013711 LAG3 lymphocyte activating 3 gene DOID:630 genetic disease ISO RGD:1344873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12013711 LAG3 lymphocyte activating 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1344873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12013723 GLIPR1 GLI pathogenesis related 1 gene DOID:2154 nephroblastoma ISO RGD:1314328 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18030365 12013723 GLIPR1 GLI pathogenesis related 1 gene DOID:630 genetic disease ISO RGD:1314328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12013723 GLIPR1 GLI pathogenesis related 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314328 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12013733 SAXO1 stabilizer of axonemal microtubules 1 gene DOID:630 genetic disease ISO RGD:1322281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12013741 PAX6 paired box 6 gene DOID:0060282 persistent hyperplastic primary vitreous ISO RGD:11059 D RGD:9068941 20200609 RGD DNA:snp:cds:pN64K (mouse) PMID:19345209|REF_RGD_ID:8551891 12013741 PAX6 paired box 6 gene DOID:0060648 anterior segment dysgenesis ISO RGD:737459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:24281366|PMID:32499604 12013741 PAX6 paired box 6 gene DOID:0060673 Peters anomaly ISO RGD:737459 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:12552561|PMID:12634864|PMID:12721955|PMID:12868034|PMID:15086958|PMID:17417613|PMID:18776953|PMID:24281366|PMID:25741868|PMID:26604670|PMID:28488383|PMID:28492532|PMID:31161946|PMID:32499604|PMID:9727514 12013741 PAX6 paired box 6 gene DOID:0080610 anterior segment dysgenesis 5 ISO RGD:737459 D RGD:7240710 20200226 OMIM 12013741 PAX6 paired box 6 gene DOID:0080610 anterior segment dysgenesis 5 ISO RGD:737459 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 | ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES | ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE PMID:10441571|PMID:1251879|PMID:12634864|PMID:12721955|PMID:12868034|PMID:14561779|PMID:15086958|PMID:1684738|PMID:17417613|PMID:18776953|PMID:1954207|PMID:25741868|PMID:26604670|PMID:28488383|PMID:28492532|PMID:31161946|PMID:6988567|PMID:9727514 12013741 PAX6 paired box 6 gene DOID:0110120 Axenfeld-Rieger syndrome type 1 ISO RGD:737459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14630904 12013741 PAX6 paired box 6 gene DOID:0110233 cataract 27 ISO RGD:737459 D RGD:9068941 20200609 RGD associated with Cataract;DNA:nonsense mutation:cds:p.R103X (human) PMID:22393272|REF_RGD_ID:8552277 12013741 PAX6 paired box 6 gene DOID:0111383 autosomal dominant keratitis ISO RGD:737459 D RGD:7240710 20180130 OMIM 12013741 PAX6 paired box 6 gene DOID:0111383 autosomal dominant keratitis ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant keratitis | ClinVar Annotator: match by term: Dominantly inherited keratitis | ClinVar Annotator: match by term: Keratitis, hereditary PMID:12868034|PMID:15086958|PMID:16407227|PMID:17417613|PMID:18776953|PMID:25741868|PMID:26604670|PMID:28492532|PMID:31161946|PMID:7627897|PMID:7668281|PMID:9727514 12013741 PAX6 paired box 6 gene DOID:0111531 bilateral optic nerve hypoplasia ISO RGD:737459 D RGD:7240710 20180130 OMIM 12013741 PAX6 paired box 6 gene DOID:0111531 bilateral optic nerve hypoplasia ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Optic nerve hypoplasia, bilateral PMID:12634864|PMID:12721955|PMID:25741868|PMID:28488383|PMID:28492532 12013741 PAX6 paired box 6 gene DOID:0111578 Gillespie syndrome ISO RGD:737459 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Gillespie syndrome PMID:25741868|PMID:26899008 12013741 PAX6 paired box 6 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:737459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:12868034|PMID:15086958|PMID:16407227|PMID:17417613|PMID:18776953|PMID:25741868|PMID:26893459|PMID:28492532|PMID:9727514 12013741 PAX6 paired box 6 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:737459 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:12868034|PMID:15086958|PMID:16407227|PMID:17417613|PMID:18776953|PMID:25741868|PMID:26604670|PMID:26893459|PMID:28492532|PMID:9727514 12013741 PAX6 paired box 6 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:12868034|PMID:15086958|PMID:16407227|PMID:17417613|PMID:18776953|PMID:25741868|PMID:26604670|PMID:26893459|PMID:28492532|PMID:31161946|PMID:9727514 12013741 PAX6 paired box 6 gene DOID:1059 intellectual disability ISO RGD:737459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12013741 PAX6 paired box 6 gene DOID:10603 glucose intolerance ISO RGD:737459 D RGD:9068941 20200609 RGD associated with Aniridia;DNA:nonsense mutation:cds:p.R240X (human) PMID:19034419|REF_RGD_ID:2308929 12013741 PAX6 paired box 6 gene DOID:10629 microphthalmia ISO RGD:737459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia PMID:12868034|PMID:15086958|PMID:16407227|PMID:17417613|PMID:18776953|PMID:25741868|PMID:28492532|PMID:29178648|PMID:9727514 12013741 PAX6 paired box 6 gene DOID:10629 microphthalmia ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia | ClinVar Annotator: match by term: Microphthalmia PMID:12868034|PMID:15086958|PMID:16407227|PMID:17417613|PMID:18776953|PMID:25741868|PMID:26604670|PMID:28492532|PMID:29178648|PMID:31161946|PMID:9727514 12013741 PAX6 paired box 6 gene DOID:1068 juvenile glaucoma ISO RGD:11059 D RGD:9068941 20220825 MouseDO 12013741 PAX6 paired box 6 gene DOID:11975 coloboma of optic nerve ISO RGD:737459 D RGD:7240710 20180130 OMIM 12013741 PAX6 paired box 6 gene DOID:11975 coloboma of optic nerve ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Coloboma of optic nerve PMID:12721955|PMID:25741868|PMID:28492532 12013741 PAX6 paired box 6 gene DOID:12270 coloboma ISO RGD:737459 D RGD:7240710 20180130 OMIM 12013741 PAX6 paired box 6 gene DOID:12270 coloboma ISO RGD:737459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coloboma, ocular, autosomal dominant | ClinVar Annotator: match by term: Congenital ocular coloboma PMID:12721955|PMID:25741868 12013741 PAX6 paired box 6 gene DOID:12271 aniridia ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aniridia, atypical | ClinVar Annotator: match by term: Congenital aniridia PMID:14744876|PMID:17417613|PMID:18776953|PMID:25741868|PMID:27013732|PMID:28492532|PMID:9931324 12013741 PAX6 paired box 6 gene DOID:12271 aniridia susceptibility ISO RGD:737459 D RGD:9068941 20200609 RGD DNA:deletion, snp:cds:p.R38GfsX16, p.S121L (human) PMID:23734086|REF_RGD_ID:8551856 12013741 PAX6 paired box 6 gene DOID:12271 aniridia susceptibility ISO RGD:737459 D RGD:9068941 20200609 RGD DNA:deletion:cds:p.Q297HfsX68 (human) PMID:22171157|REF_RGD_ID:8551859 12013741 PAX6 paired box 6 gene DOID:12271 aniridia susceptibility ISO RGD:737459 D RGD:9068941 20200609 RGD DNA:deletion:cds:p.R38PfsX12 (human) PMID:20664694|REF_RGD_ID:8551858 12013741 PAX6 paired box 6 gene DOID:12271 aniridia susceptibility ISO RGD:737459 D RGD:9068941 20200609 RGD DNA:nonsense mutation:cds:p.R240X (human) PMID:22815628|REF_RGD_ID:8551860 12013741 PAX6 paired box 6 gene DOID:1229 paranoid schizophrenia ISO RGD:737459 D RGD:9068941 20200609 RGD DNA:repeats:promoter: (human) PMID:10376119|REF_RGD_ID:1358554 12013741 PAX6 paired box 6 gene DOID:12849 autistic disorder ISO RGD:3258 D RGD:9068941 20200609 RGD PMID:21203536|REF_RGD_ID:8552339 12013741 PAX6 paired box 6 gene DOID:12849 autistic disorder ISO RGD:737459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18322702 12013741 PAX6 paired box 6 gene DOID:14515 WAGR syndrome ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome PMID:12868034|PMID:15086958|PMID:17417613|PMID:18776953|PMID:25741868|PMID:26604670|PMID:28492532|PMID:31161946|PMID:9727514 12013741 PAX6 paired box 6 gene DOID:14692 Smith-Lemli-Opitz syndrome ISO RGD:3258 D RGD:9068941 20200609 RGD protein:altered expression:embryo, forebrain, hindbrain (rat) PMID:10564872|REF_RGD_ID:8552380 12013741 PAX6 paired box 6 gene DOID:1891 optic nerve disease ISO RGD:737459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12721955 12013741 PAX6 paired box 6 gene DOID:1909 melanoma ISO RGD:737459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 12013741 PAX6 paired box 6 gene DOID:224 transient cerebral ischemia ISO RGD:3258 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, striatum, astroglial cell (rat) PMID:24114637|REF_RGD_ID:8552354 12013741 PAX6 paired box 6 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:737459 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic duct (human) PMID:17849422|REF_RGD_ID:8552381 12013741 PAX6 paired box 6 gene DOID:3764 Denys-Drash syndrome ISO RGD:737459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Drash syndrome PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28492532 12013741 PAX6 paired box 6 gene DOID:630 genetic disease ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12634864|PMID:25741868|PMID:28321846|PMID:28492532|PMID:28760551|PMID:32360764|PMID:34065151 12013741 PAX6 paired box 6 gene DOID:83 cataract ISO RGD:737459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:26694549|PMID:29178648 12013741 PAX6 paired box 6 gene DOID:9000217 Stomach Neoplasms ISO RGD:737459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12013741 PAX6 paired box 6 gene DOID:9001098 Optic Nerve Aplasia, Bilateral ISO RGD:737459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic nerve aplasia, bilateral PMID:12721955 12013741 PAX6 paired box 6 gene DOID:9001575 IRIS COLOBOMA ISO RGD:737459 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Iris coloboma PMID:25741868 12013741 PAX6 paired box 6 gene DOID:9002049 Anophthalmia ISO RGD:737459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia 12013741 PAX6 paired box 6 gene DOID:9002189 High Myopia susceptibility ISO RGD:737459 D RGD:9068941 20200609 RGD DNA:snp, haplotype:3' utr:c.*2160G>A (rs12421026) (human) PMID:21589860|REF_RGD_ID:8552263 12013741 PAX6 paired box 6 gene DOID:9002189 High Myopia susceptibility ISO RGD:737459 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS11+393C>A (rs644242) (human) PMID:23213273|REF_RGD_ID:8552307 12013741 PAX6 paired box 6 gene DOID:9002189 High Myopia susceptibility ISO RGD:737459 D RGD:9068941 20200609 RGD DNA:snps:intron:IVS13+43T>G, IVS13-1101A>G (rs3026393, rs3026390) (human) PMID:19124844|REF_RGD_ID:8552290 12013741 PAX6 paired box 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12013741 PAX6 paired box 6 gene DOID:9002455 Aniridia 1 ISO RGD:737459 D RGD:7240710 20180130 OMIM 12013741 PAX6 paired box 6 gene DOID:9002455 Aniridia 1 ISO RGD:737459 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aniridia 1 | ClinVar Annotator: match by term: Cataracts, congenital, with late-onset corneal dystrophy PMID:10234503|PMID:10477494|PMID:10694925|PMID:10737978|PMID:10887930|PMID:11284764|PMID:11309364|PMID:11431688|PMID:11479730|PMID:11553050|PMID:11826019|PMID:12015275|PMID:12388550|PMID:1251879|PMID:12552561|PMID:12634864|PMID:12721955|PMID:12731001|PMID:12782766|PMID:12868034|PMID:1302030|PMID:1345175|PMID:14561779|PMID:14744876|PMID:15020706|PMID:15086958|PMID:15150775|PMID:15579687|PMID:15846561|PMID:15889018|PMID:16098226|PMID:16199547|PMID:16493447|PMID:16617299|PMID:16712695|PMID:16785853|PMID:1684738|PMID:17148041|PMID:17406642|PMID:17417613|PMID:17568989|PMID:17576681|PMID:17595013|PMID:17630404|PMID:18241071|PMID:18332330|PMID:18483559|PMID:18776953|PMID:19218613|PMID:1954207|PMID:19862335|PMID:19876904|PMID:19898691|PMID:20054790|PMID:20577777|PMID:2080308|PMID:21397818|PMID:21423868|PMID:21848007|PMID:21850189|PMID:22171686|PMID:22361317|PMID:22393275|PMID:22509105|PMID:22692063|PMID:22893676|PMID:23404109|PMID:23517654|PMID:23734086|PMID:23761016|PMID:23942204|PMID:24138039|PMID:24266705|PMID:24390526|PMID:24623969|PMID:24737507|PMID:25678763|PMID:25741868|PMID:26535646|PMID:26604670|PMID:26661695|PMID:26694549|PMID:26849621|PMID:27013732|PMID:27081502|PMID:27081561|PMID:27124303|PMID:27307692|PMID:27431685|PMID:27455012|PMID:27463523|PMID:27878435|PMID:28231309|PMID:28321846|PMID:28488383|PMID:28492532|PMID:28559085|PMID:29145603|PMID:29217025|PMID:29618921|PMID:29780932|PMID:29914532|PMID:30167917|PMID:30291432|PMID:30315214|PMID:30986449|PMID:31161946|PMID:31700164|PMID:32080308|PMID:32360764|PMID:32467297|PMID:32860008|PMID:33169869|PMID:34101622|PMID:34174135|PMID:34415986|PMID:6988567|PMID:7550230|PMID:7666404|PMID:7951315|PMID:8111279|PMID:8111379|PMID:8364574|PMID:8640214|PMID:8689689|PMID:9138149|PMID:9279758|PMID:9281415|PMID:9452088|PMID:9482572|PMID:9536098|PMID:9727514|PMID:9792406|PMID:9931324 12013741 PAX6 paired box 6 gene DOID:9003088 O'Donnell Pappas Syndrome ISO RGD:737459 D RGD:7240710 20180130 OMIM 12013741 PAX6 paired box 6 gene DOID:9003088 O'Donnell Pappas Syndrome ISO RGD:737459 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia 1 with or without anterior segment anomalies | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome PMID:10441571|PMID:12868034|PMID:14744876|PMID:15086958|PMID:15629294|PMID:16407227|PMID:17417613|PMID:18332330|PMID:18776953|PMID:22361317|PMID:23404109|PMID:25741868|PMID:26604670|PMID:27013732|PMID:28492532|PMID:32360764|PMID:8364574|PMID:8640214|PMID:9727514|PMID:9931324 12013741 PAX6 paired box 6 gene DOID:9003088 O'Donnell Pappas Syndrome ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia 1 with cataract | ClinVar Annotator: match by term: Foveal hypoplasia 1 with or without anterior segment anomalies | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome PMID:10234503|PMID:10441571|PMID:12868034|PMID:14744876|PMID:15086958|PMID:15629294|PMID:16407227|PMID:17417613|PMID:18332330|PMID:18776953|PMID:22361317|PMID:23404109|PMID:25741868|PMID:26604670|PMID:27013732|PMID:28492532|PMID:31161946|PMID:32360764|PMID:8364574|PMID:8640214|PMID:9727514|PMID:9931324 12013741 PAX6 paired box 6 gene DOID:9003133 Hypertelorism ISO RGD:737459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:11309364|PMID:11431688|PMID:12552561|PMID:12731001|PMID:16098226|PMID:25741868|PMID:27431685|PMID:28321846|PMID:28492532|PMID:29618921 12013741 PAX6 paired box 6 gene DOID:9003775 Chromosome 11p Deletion Syndrome ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 11p deletion syndrome PMID:12868034|PMID:15086958|PMID:17417613|PMID:18776953|PMID:25741868|PMID:26604670|PMID:28492532|PMID:31161946|PMID:9727514 12013741 PAX6 paired box 6 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 12013741 PAX6 paired box 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12013741 PAX6 paired box 6 gene DOID:9006534 Nervous System Malformations ISO RGD:737459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19329571 12013741 PAX6 paired box 6 gene DOID:9008091 Optic Nerve Injuries ISO RGD:3258 D RGD:9068941 20200609 RGD protein:increased expression:retina (rat) PMID:23297010|REF_RGD_ID:8552379 12013741 PAX6 paired box 6 gene DOID:9008296 Eye Abnormalities ISO RGD:3258 D RGD:9068941 20200609 RGD PMID:9247338|REF_RGD_ID:731242 12013741 PAX6 paired box 6 gene DOID:9008296 Eye Abnormalities ISO RGD:737459 D RGD:9068941 20200609 RGD PMID:10441571|PMID:12721955|REF_RGD_ID:1601210|REF_RGD_ID:1601211 12013741 PAX6 paired box 6 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:737459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7559133|PMID:9079035|PMID:9363853 12013741 PAX6 paired box 6 gene DOID:9009007 Tooth Abnormalities ISO RGD:737459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7559133|PMID:9363853 12013741 PAX6 paired box 6 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12013741 PAX6 paired box 6 gene DOID:9649 congenital nystagmus ISO RGD:737459 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS4+5G>C (human) PMID:15629294|REF_RGD_ID:8552281 12013778 A3GALT2 alpha 1,3-galactosyltransferase 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12013786 SPAG1 sperm associated antigen 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1321762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:24055112|PMID:25741868|PMID:26228299|PMID:27637300|PMID:28492532|PMID:30067075 12013786 SPAG1 sperm associated antigen 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1321762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:24055112|PMID:25741868|PMID:26228299|PMID:27637300|PMID:28492532|PMID:30067075 12013786 SPAG1 sperm associated antigen 1 gene DOID:0110607 primary ciliary dyskinesia 28 ISO RGD:1321762 D RGD:7240710 20180130 OMIM 12013786 SPAG1 sperm associated antigen 1 gene DOID:0110607 primary ciliary dyskinesia 28 ISO RGD:1321762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 28 PMID:16199547|PMID:17576681|PMID:24033266|PMID:24055112|PMID:25741868|PMID:26139845|PMID:26228299|PMID:27637300|PMID:28492532|PMID:30067075|PMID:9536098 12013786 SPAG1 sperm associated antigen 1 gene DOID:0111590 Cohen syndrome ISO RGD:1321762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12013786 SPAG1 sperm associated antigen 1 gene DOID:630 genetic disease ISO RGD:1321762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12013786 SPAG1 sperm associated antigen 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321762 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:24033266|PMID:24055112|PMID:25741868|PMID:26228299|PMID:27637300|PMID:28492532|PMID:30067075 12013816 DOCK10 dedicator of cytokinesis 10 gene DOID:630 genetic disease ISO RGD:1348168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12013816 DOCK10 dedicator of cytokinesis 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12013816 DOCK10 dedicator of cytokinesis 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12013890 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:0050880 Koolen de Vries syndrome ISO RGD:1605247 D RGD:7240710 20180130 OMIM 12013890 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:0050880 Koolen de Vries syndrome ISO RGD:1605247 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: KANSL1-Related Intellectual Disability Syndrome | ClinVar Annotator: match by term: Koolen-de Vries syndrome PMID:16199547|PMID:17576681|PMID:18628315|PMID:20301783|PMID:21094706|PMID:22544363|PMID:22544367|PMID:24056718|PMID:24088041|PMID:25326635|PMID:25326637|PMID:25640679|PMID:25741868|PMID:25741877|PMID:26306646|PMID:26424144|PMID:26467025|PMID:26633545|PMID:28211987|PMID:28492532|PMID:29352316|PMID:29655203|PMID:30293248|PMID:33004838|PMID:9536098 12013890 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:0050888 syndromic intellectual disability ISO RGD:1605247 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:26467025|PMID:28492532 12013890 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:0060641 endocrine-cerebro-osteodysplasia syndrome ISO RGD:1605247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysplastic corpus callosum PMID:25741868 12013890 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1605247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12013890 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:1605247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24056718 12013890 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:1059 intellectual disability ISO RGD:1605247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:26424144|PMID:26467025|PMID:28492532 12013890 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:1826 epilepsy ISO RGD:1605247 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12013890 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:630 genetic disease ISO RGD:1605247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24056718|PMID:25741868|PMID:26424144|PMID:26467025|PMID:28492532|PMID:29352316|PMID:30293248 12013890 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:9001626 Chromosome 17 Deletion ISO RGD:1605247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22544363|PMID:22544367 12013890 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1605247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043753 12013890 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12013890 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1605247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22544363|PMID:22544367 12013890 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1605247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:20301783|PMID:22544363|PMID:22544367|PMID:25741868|PMID:25741877|PMID:28492532 12013890 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:9008582 Developmental Disease ISO RGD:1605247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12013890 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1605247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22544363|PMID:22544367 12013890 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:9255 frontotemporal dementia ISO RGD:1605247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:18628315|PMID:21094706|PMID:28492532 12013924 SFSWAP splicing factor SWAP gene DOID:0060041 autism spectrum disorder ISO RGD:1312773 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24781735 12013924 SFSWAP splicing factor SWAP gene DOID:630 genetic disease ISO RGD:1312773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12013962 ZNF546 zinc finger protein 546 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1354009 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12013962 ZNF546 zinc finger protein 546 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1354009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12013962 ZNF546 zinc finger protein 546 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1354009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12013962 ZNF546 zinc finger protein 546 gene DOID:2340 craniosynostosis ISO RGD:1354009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12013962 ZNF546 zinc finger protein 546 gene DOID:630 genetic disease ISO RGD:1354009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12013962 ZNF546 zinc finger protein 546 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1354009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12013962 ZNF546 zinc finger protein 546 gene DOID:9269 maple syrup urine disease ISO RGD:1354009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12013962 ZNF546 zinc finger protein 546 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1354009 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12013982 ZNF501 zinc finger protein 501 gene DOID:630 genetic disease ISO RGD:1353469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12013992 PRTN3 proteinase 3 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1312601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 12013992 PRTN3 proteinase 3 gene DOID:12132 granulomatosis with polyangiitis ISO RGD:1312601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25288799 12013992 PRTN3 proteinase 3 gene DOID:5339 cyclic hematopoiesis ISO RGD:1312601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12013992 PRTN3 proteinase 3 gene DOID:630 genetic disease ISO RGD:1312601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12013992 PRTN3 proteinase 3 gene DOID:8552 chronic myeloid leukemia ISO RGD:1312601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17157168 12014002 ZNF223 zinc finger protein 223 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1353320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12014002 ZNF223 zinc finger protein 223 gene DOID:5419 schizophrenia ISO RGD:1353320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12014002 ZNF223 zinc finger protein 223 gene DOID:630 genetic disease ISO RGD:1353320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014020 PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 gene DOID:0050563 nonsyndromic deafness ISO RGD:1317745 D RGD:9068941 20220825 MouseDO 12014020 PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12014020 PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 gene DOID:0111638 autosomal recessive nonsyndromic deafness 100 ISO RGD:1604040 D RGD:7240710 20190605 OMIM 12014020 PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 gene DOID:0111638 autosomal recessive nonsyndromic deafness 100 ISO RGD:1604040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 100 PMID:15538632|PMID:25741868|PMID:29590114 12014020 PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 gene DOID:10283 prostate cancer ISO RGD:1604040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12014020 PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 gene DOID:630 genetic disease ISO RGD:1604040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014020 PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12014020 PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12014069 RALB RAS like proto-oncogene B gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:1351800 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:17174914|REF_RGD_ID:14394417 12014069 RALB RAS like proto-oncogene B gene DOID:630 genetic disease ISO RGD:1351800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014086 APTX aprataxin gene DOID:0050730 coenzyme Q10 deficiency disease ISO RGD:1606553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Oculomotor Apraxia Type PMID:24033266|PMID:25741868|PMID:26285866|PMID:26467025|PMID:28492532 12014086 APTX aprataxin gene DOID:0050754 ataxia with oculomotor apraxia type 1 ISO RGD:1606553 D RGD:7240710 20180130 OMIM 12014086 APTX aprataxin gene DOID:0050754 ataxia with oculomotor apraxia type 1 ISO RGD:1606553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia PMID:11176957|PMID:11294920|PMID:11586299|PMID:11586300|PMID:12196655|PMID:12629250|PMID:14506070|PMID:15164193|PMID:15276230|PMID:15365154|PMID:15596775|PMID:15699391|PMID:15719174|PMID:15790557|PMID:15852392|PMID:15876520|PMID:15996403|PMID:16400613|PMID:16700949|PMID:17242337|PMID:18004640|PMID:18403580|PMID:21228398|PMID:21465257|PMID:21486904|PMID:21984210|PMID:23183622|PMID:23659632|PMID:24033266|PMID:24362567|PMID:25637650|PMID:25741868|PMID:26285866|PMID:26467025|PMID:28492532|PMID:28516743|PMID:28652255|PMID:28881617|PMID:29356829|PMID:29482223|PMID:29934293|PMID:31493945|PMID:32214227|PMID:32606550|PMID:32750061|PMID:33624863 12014086 APTX aprataxin gene DOID:0050754 ataxia with oculomotor apraxia type 1 susceptibility ISO RGD:1606553 D RGD:9068941 20200609 RGD DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human) PMID:12196655|REF_RGD_ID:1599207 12014086 APTX aprataxin gene DOID:0050755 ataxia with oculomotor apraxia type 2 ISO RGD:1606553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 PMID:24033266|PMID:25741868|PMID:26285866|PMID:26467025|PMID:28492532 12014086 APTX aprataxin gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1606553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12014086 APTX aprataxin gene DOID:0070238 primary coenzyme Q10 deficiency 1 ISO RGD:1606553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 1 12014086 APTX aprataxin gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1606553 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12014086 APTX aprataxin gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1606553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12014086 APTX aprataxin gene DOID:14784 olivopontocerebellar atrophy ISO RGD:1606553 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:725G>A,457A>G(human) PMID:21465257|REF_RGD_ID:10054301 12014086 APTX aprataxin gene DOID:630 genetic disease ISO RGD:1606553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11176957|PMID:11294920|PMID:11586299|PMID:11586300|PMID:12629250|PMID:14506070|PMID:15164193|PMID:15276230|PMID:15699391|PMID:15790557|PMID:15876520|PMID:15996403|PMID:16400613|PMID:16700949|PMID:17242337|PMID:18403580|PMID:21465257|PMID:21486904|PMID:24033266|PMID:25741868|PMID:26285866|PMID:26467025|PMID:28492532|PMID:29356829|PMID:29482223|PMID:31493945|PMID:32214227|PMID:32606550|PMID:32750061 12014086 APTX aprataxin gene DOID:9562 primary ciliary dyskinesia ISO RGD:1606553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12014086 APTX aprataxin gene DOID:9870 galactosemia ISO RGD:1606553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12014130 LOC100975257 testis expressed protein 56 gene DOID:630 genetic disease ISO RGD:1354340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014144 PLA2G5 phospholipase A2 group V gene DOID:0060369 Parkinson's disease 6 ISO RGD:735328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12014144 PLA2G5 phospholipase A2 group V gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:735328 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12014144 PLA2G5 phospholipase A2 group V gene DOID:0060869 late-onset retinal degeneration ISO RGD:735328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Late-onset retinal degeneration 12014144 PLA2G5 phospholipase A2 group V gene DOID:0080543 hyperprolinemia type 2 ISO RGD:735328 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12014144 PLA2G5 phospholipase A2 group V gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:735328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12014144 PLA2G5 phospholipase A2 group V gene DOID:0111677 familial benign fleck retina ISO RGD:735328 D RGD:7240710 20180130 OMIM 12014144 PLA2G5 phospholipase A2 group V gene DOID:0111677 familial benign fleck retina ISO RGD:735328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fleck retina, familial benign PMID:17502520|PMID:22137173|PMID:25549071|PMID:28492532 12014144 PLA2G5 phospholipase A2 group V gene DOID:630 genetic disease ISO RGD:735328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12014144 PLA2G5 phospholipase A2 group V gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:735328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12014166 F2 coagulation factor II, thrombin gene DOID:0060903 thrombosis ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10064001|PMID:11132655|PMID:1279834|PMID:17245631 12014166 F2 coagulation factor II, thrombin gene DOID:0060903 thrombosis ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:mutation: :20210G>A (human) PMID:21070754|REF_RGD_ID:6893603 12014166 F2 coagulation factor II, thrombin gene DOID:0060903 thrombosis ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:22402172|REF_RGD_ID:7387314 12014166 F2 coagulation factor II, thrombin gene DOID:0060903 thrombosis ISO RGD:62288 D RGD:9068941 20200609 RGD PMID:21605330|REF_RGD_ID:7387259 12014166 F2 coagulation factor II, thrombin gene DOID:0060903 thrombosis no_association ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;DNA:mutation: :20210G>A (human) PMID:12632020|REF_RGD_ID:7394765 12014166 F2 coagulation factor II, thrombin gene DOID:0060903 thrombosis treatment ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:17293494|REF_RGD_ID:11035267 12014166 F2 coagulation factor II, thrombin gene DOID:0060903 thrombosis treatment ISO RGD:62288 D RGD:9068941 20200609 RGD associated with Carotid Artery Injuries PMID:15039280|REF_RGD_ID:10449423 12014166 F2 coagulation factor II, thrombin gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1353256 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12014166 F2 coagulation factor II, thrombin gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22841818 12014166 F2 coagulation factor II, thrombin gene DOID:0080600 COVID-19 disease_progression ISO RGD:1353256 D RGD:9068941 20200618 RGD associated with diabetes mellitus PMID:32345579|REF_RGD_ID:30296681 12014166 F2 coagulation factor II, thrombin gene DOID:0080600 COVID-19 severity ISO RGD:1353256 D RGD:9068941 20200625 RGD PMID:32198776|PMID:32302954|PMID:32350161|REF_RGD_ID:30296673|REF_RGD_ID:30296679|REF_RGD_ID:30309962 12014166 F2 coagulation factor II, thrombin gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:61996 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:16981243|REF_RGD_ID:6893592 12014166 F2 coagulation factor II, thrombin gene DOID:0080941 acquired angioedema disease_progression ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:9129025|REF_RGD_ID:11565081 12014166 F2 coagulation factor II, thrombin gene DOID:0111907 thrombophilia due to thrombin defect ISO RGD:1353256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Thrombophilia due to thrombin defect PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:15059842|PMID:15534175|PMID:16493002|PMID:16606808|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:22716977|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:2825773|PMID:28492532|PMID:28707429|PMID:30297698|PMID:31582550|PMID:32194638|PMID:34110897|PMID:34355501|PMID:6305407|PMID:6405779|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 12014166 F2 coagulation factor II, thrombin gene DOID:0111907 thrombophilia due to thrombin defect susceptibility ISO RGD:1353256 D RGD:7240710 20230517 OMIM 12014166 F2 coagulation factor II, thrombin gene DOID:10003 sensorineural hearing loss ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:transition: :20210G>A (human) PMID:17334320|REF_RGD_ID:7387261 12014166 F2 coagulation factor II, thrombin gene DOID:10003 sensorineural hearing loss ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with Stroke PMID:18636032|REF_RGD_ID:7387268 12014166 F2 coagulation factor II, thrombin gene DOID:10003 sensorineural hearing loss no_association ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:transition: :20210G>A(human) PMID:16572609|REF_RGD_ID:7387240 12014166 F2 coagulation factor II, thrombin gene DOID:10283 prostate cancer ISO RGD:1353256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12014166 F2 coagulation factor II, thrombin gene DOID:1059 intellectual disability ISO RGD:1353256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12014166 F2 coagulation factor II, thrombin gene DOID:10591 pre-eclampsia severity ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:polymorphism: :20210G>A(human) PMID:16246971|REF_RGD_ID:6893628 12014166 F2 coagulation factor II, thrombin gene DOID:10608 celiac disease ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:23556408|REF_RGD_ID:7387257 12014166 F2 coagulation factor II, thrombin gene DOID:10652 Alzheimer's disease ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8333868 12014166 F2 coagulation factor II, thrombin gene DOID:10923 sickle cell anemia ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:8191393|REF_RGD_ID:11565080 12014166 F2 coagulation factor II, thrombin gene DOID:10923 sickle cell anemia disease_progression ISO RGD:62288 D RGD:9068941 20200609 RGD PMID:26286849|REF_RGD_ID:11565074 12014166 F2 coagulation factor II, thrombin gene DOID:11054 urinary bladder cancer severity ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:22236518|REF_RGD_ID:6893573 12014166 F2 coagulation factor II, thrombin gene DOID:11247 disseminated intravascular coagulation ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1894189 12014166 F2 coagulation factor II, thrombin gene DOID:11247 disseminated intravascular coagulation ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:1336986|REF_RGD_ID:10449429 12014166 F2 coagulation factor II, thrombin gene DOID:11247 disseminated intravascular coagulation ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with Wounds and Injuries PMID:19682336|REF_RGD_ID:10449422 12014166 F2 coagulation factor II, thrombin gene DOID:11247 disseminated intravascular coagulation ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:22229668|PMID:23737601|REF_RGD_ID:10449432|REF_RGD_ID:6893489 12014166 F2 coagulation factor II, thrombin gene DOID:11695 portal vein thrombosis severity ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with liver cirrhosis;protein:increased expression:plasma (human) PMID:28465646|REF_RGD_ID:14985237 12014166 F2 coagulation factor II, thrombin gene DOID:12134 factor VIII deficiency treatment ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:26635073|REF_RGD_ID:11565076 12014166 F2 coagulation factor II, thrombin gene DOID:12140 Chagas disease ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:20699256|REF_RGD_ID:5147778 12014166 F2 coagulation factor II, thrombin gene DOID:12140 Chagas disease ISO RGD:1353256 D RGD:9068941 20201203 RGD protein:increased expression:blood plasma (human) PMID:21866301|REF_RGD_ID:40818435 12014166 F2 coagulation factor II, thrombin gene DOID:12205 dengue disease ISO RGD:1353256 D RGD:9068941 20201203 RGD PMID:22138554|REF_RGD_ID:40818430 12014166 F2 coagulation factor II, thrombin gene DOID:12259 hemophilia B treatment ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:26635073|REF_RGD_ID:11565076 12014166 F2 coagulation factor II, thrombin gene DOID:1247 blood coagulation disease ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17721328 12014166 F2 coagulation factor II, thrombin gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1353256 D RGD:9068941 20201127 RGD associated with diarrhea;protein:increased expression:plasma (human) PMID:9423793|REF_RGD_ID:40818428 12014166 F2 coagulation factor II, thrombin gene DOID:12858 Huntington's disease ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:21297956|REF_RGD_ID:5147768 12014166 F2 coagulation factor II, thrombin gene DOID:13001 carotid stenosis ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:SNP:3'-UTR:in men only PMID:15748240|REF_RGD_ID:5509914 12014166 F2 coagulation factor II, thrombin gene DOID:14115 toxic shock syndrome severity ISO RGD:1353256 D RGD:9068941 20201203 RGD protein:decreased expression:blood plasma (human) PMID:2788582|REF_RGD_ID:40822807 12014166 F2 coagulation factor II, thrombin gene DOID:14735 hereditary angioedema disease_progression ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:9129025|REF_RGD_ID:11565081 12014166 F2 coagulation factor II, thrombin gene DOID:1555 urticaria ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21488867|REF_RGD_ID:5147756 12014166 F2 coagulation factor II, thrombin gene DOID:1727 retinal vein occlusion ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:22800650|REF_RGD_ID:7387258 12014166 F2 coagulation factor II, thrombin gene DOID:1727 retinal vein occlusion no_association ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:SNP: :20210G>A (human) PMID:14994919|REF_RGD_ID:7394774 12014166 F2 coagulation factor II, thrombin gene DOID:1883 hepatitis C treatment ISO RGD:1353256 D RGD:9068941 20201203 RGD PMID:28129465|REF_RGD_ID:40818432 12014166 F2 coagulation factor II, thrombin gene DOID:1936 atherosclerosis treatment ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:20979870|REF_RGD_ID:7387315 12014166 F2 coagulation factor II, thrombin gene DOID:1969 cerebral palsy ISO RGD:1353256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:15059842|PMID:15534175|PMID:16493002|PMID:16606808|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:2825773|PMID:28492532|PMID:28707429|PMID:30297698|PMID:34110897|PMID:34355501|PMID:6305407|PMID:6405779|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 12014166 F2 coagulation factor II, thrombin gene DOID:2048 autoimmune hepatitis ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:20821236|REF_RGD_ID:5147775 12014166 F2 coagulation factor II, thrombin gene DOID:2048 autoimmune hepatitis disease_progression ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21711423|REF_RGD_ID:5147750 12014166 F2 coagulation factor II, thrombin gene DOID:2235 prothrombin deficiency ISO RGD:1353256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital factor II deficiency | ClinVar Annotator: match by term: Factor II deficiency PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:13228032|PMID:15059842|PMID:15534175|PMID:16493002|PMID:16606808|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19598065|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:2825773|PMID:28492532|PMID:28707429|PMID:30297698|PMID:31064749|PMID:34110897|PMID:34355501|PMID:6305407|PMID:6405779|PMID:7740448|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 12014166 F2 coagulation factor II, thrombin gene DOID:2297 leptospirosis ISO RGD:1353256 D RGD:9068941 20201203 RGD protein:increased expression:blood plasma (human) PMID:18171258|REF_RGD_ID:40818429 12014166 F2 coagulation factor II, thrombin gene DOID:2297 leptospirosis severity ISO RGD:1353256 D RGD:9068941 20201127 RGD protein:increased expression:blood plasma (human) PMID:20002620|REF_RGD_ID:40819859 12014166 F2 coagulation factor II, thrombin gene DOID:2316 brain ischemia ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14753426|PMID:15534175 12014166 F2 coagulation factor II, thrombin gene DOID:2394 ovarian cancer ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21833453|REF_RGD_ID:5147781 12014166 F2 coagulation factor II, thrombin gene DOID:2452 thrombophilia ISO RGD:1353256 D RGD:9068941 20200730 CTD CTD Direct Evidence: marker/mechanism PMID:16628723 12014166 F2 coagulation factor II, thrombin gene DOID:2452 thrombophilia ISO RGD:61996 D RGD:9068941 20200730 RGD PMID:21232185|REF_RGD_ID:7387320 12014166 F2 coagulation factor II, thrombin gene DOID:2527 nephrosis ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18541230 12014166 F2 coagulation factor II, thrombin gene DOID:2527 nephrosis ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:18541230|REF_RGD_ID:6893577 12014166 F2 coagulation factor II, thrombin gene DOID:2841 asthma ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with Rhinosinusitis, associated with Nasal Polyps;protein:increased expression:nasal mucus PMID:21711961|REF_RGD_ID:5147783 12014166 F2 coagulation factor II, thrombin gene DOID:2841 asthma ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21658190|REF_RGD_ID:5147753 12014166 F2 coagulation factor II, thrombin gene DOID:2921 glomerulonephritis ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:17519558|REF_RGD_ID:6893586 12014166 F2 coagulation factor II, thrombin gene DOID:2921 glomerulonephritis ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression;urine PMID:15164604|REF_RGD_ID:6893593 12014166 F2 coagulation factor II, thrombin gene DOID:2987 familial Mediterranean fever ISO RGD:1353256 D RGD:9068941 20201203 RGD protein:increased expression:blood plasma (human) PMID:16721492|REF_RGD_ID:40818434 12014166 F2 coagulation factor II, thrombin gene DOID:3070 high grade glioma treatment ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:15975137|REF_RGD_ID:1578509 12014166 F2 coagulation factor II, thrombin gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21660493|REF_RGD_ID:5147752 12014166 F2 coagulation factor II, thrombin gene DOID:3310 atopic dermatitis ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21488867|REF_RGD_ID:5147756 12014166 F2 coagulation factor II, thrombin gene DOID:3393 coronary artery disease treatment ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:14961168|REF_RGD_ID:10449426 12014166 F2 coagulation factor II, thrombin gene DOID:3525 middle cerebral artery infarction ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29651748 12014166 F2 coagulation factor II, thrombin gene DOID:3526 cerebral infarction ISO RGD:1353256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ischemic stroke | ClinVar Annotator: match by term: Ischemic stroke, susceptibility to PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:15059842|PMID:15534175|PMID:16493002|PMID:16606808|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:2825773|PMID:28492532|PMID:28707429|PMID:30297698|PMID:34110897|PMID:34355501|PMID:6305407|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 12014166 F2 coagulation factor II, thrombin gene DOID:3526 cerebral infarction susceptibility ISO RGD:1353256 D RGD:7240710 20230517 OMIM 12014166 F2 coagulation factor II, thrombin gene DOID:3572 intracranial sinus thrombosis ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12269725 12014166 F2 coagulation factor II, thrombin gene DOID:3770 pulmonary fibrosis ISO RGD:62288 D RGD:9068941 20200609 RGD PMID:21312187|REF_RGD_ID:5147767 12014166 F2 coagulation factor II, thrombin gene DOID:418 systemic scleroderma ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:9374919|REF_RGD_ID:11565087 12014166 F2 coagulation factor II, thrombin gene DOID:4195 hyperglycemia ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with Myocardial Infarction PMID:18487475|REF_RGD_ID:2313851 12014166 F2 coagulation factor II, thrombin gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:22065054|REF_RGD_ID:6893520 12014166 F2 coagulation factor II, thrombin gene DOID:4481 allergic rhinitis ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucus PMID:21711961|REF_RGD_ID:5147783 12014166 F2 coagulation factor II, thrombin gene DOID:4724 brain edema ISO RGD:61996 D RGD:9068941 20200609 RGD associated with Cerebral Hemorrhage PMID:20541575|REF_RGD_ID:5490126 12014166 F2 coagulation factor II, thrombin gene DOID:5082 liver cirrhosis ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10216089 12014166 F2 coagulation factor II, thrombin gene DOID:5082 liver cirrhosis severity ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (human) PMID:15726661|REF_RGD_ID:14985236 12014166 F2 coagulation factor II, thrombin gene DOID:5082 liver cirrhosis severity ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:29768734|REF_RGD_ID:14985235 12014166 F2 coagulation factor II, thrombin gene DOID:5082 liver cirrhosis severity ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:9863491|REF_RGD_ID:14401592 12014166 F2 coagulation factor II, thrombin gene DOID:5419 schizophrenia ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25821032 12014166 F2 coagulation factor II, thrombin gene DOID:5614 eye disease ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;DNA:mutation: :20210G>A (human) PMID:15077257|REF_RGD_ID:7394769 12014166 F2 coagulation factor II, thrombin gene DOID:5844 myocardial infarction ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10027711|PMID:9292507|PMID:9531249 12014166 F2 coagulation factor II, thrombin gene DOID:5844 myocardial infarction susceptibility ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:polymorphism::20210G>A(human) PMID:12480694|REF_RGD_ID:1581022 12014166 F2 coagulation factor II, thrombin gene DOID:630 genetic disease ISO RGD:1353256 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31582550|PMID:32194638 12014166 F2 coagulation factor II, thrombin gene DOID:684 hepatocellular carcinoma ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2821104 12014166 F2 coagulation factor II, thrombin gene DOID:684 hepatocellular carcinoma severity ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with liver cirrhosis;protein:altered expression, altered processing:liver (human) PMID:7620113|REF_RGD_ID:14975114 12014166 F2 coagulation factor II, thrombin gene DOID:7148 rheumatoid arthritis ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26001728 12014166 F2 coagulation factor II, thrombin gene DOID:783 end stage renal disease treatment ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:22473220|REF_RGD_ID:7387323 12014166 F2 coagulation factor II, thrombin gene DOID:8337 appendicitis ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21663567|REF_RGD_ID:5147751 12014166 F2 coagulation factor II, thrombin gene DOID:8506 bullous pemphigoid ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21488867|REF_RGD_ID:5147756 12014166 F2 coagulation factor II, thrombin gene DOID:8536 herpes zoster treatment ISO RGD:1353256 D RGD:9068941 20201203 RGD PMID:11449671|REF_RGD_ID:40818431 12014166 F2 coagulation factor II, thrombin gene DOID:8577 ulcerative colitis ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21593018|REF_RGD_ID:5147754 12014166 F2 coagulation factor II, thrombin gene DOID:874 bacterial pneumonia ISO RGD:61996 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:21897338|REF_RGD_ID:6893486 12014166 F2 coagulation factor II, thrombin gene DOID:8778 Crohn's disease ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21593018|REF_RGD_ID:5147754 12014166 F2 coagulation factor II, thrombin gene DOID:9000039 Spinal Cord Injuries ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:16344894|REF_RGD_ID:2303423 12014166 F2 coagulation factor II, thrombin gene DOID:9000040 Hypertrophy ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26385185 12014166 F2 coagulation factor II, thrombin gene DOID:9000184 Ventricular Fibrillation ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with Myocardial Infarction;protein:increased expression:plasma: PMID:16649726|REF_RGD_ID:11565086 12014166 F2 coagulation factor II, thrombin gene DOID:9000965 Neoplasm Metastasis ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with Carcinoma, Small cell;protein:increased expression:brain PMID:22065054|REF_RGD_ID:6893520 12014166 F2 coagulation factor II, thrombin gene DOID:9000998 Brain Injuries severity ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21355766|REF_RGD_ID:5147766 12014166 F2 coagulation factor II, thrombin gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:22624582|REF_RGD_ID:11041730 12014166 F2 coagulation factor II, thrombin gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21496882|REF_RGD_ID:5147784 12014166 F2 coagulation factor II, thrombin gene DOID:9001708 Hemorrhagic Shock ISO RGD:61996 D RGD:9068941 20200609 RGD protein:decreased activity:blood (rat) PMID:21550061|REF_RGD_ID:5132267 12014166 F2 coagulation factor II, thrombin gene DOID:9001747 Ventricular Dysfunction, Left severity ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with Muscular Dystrophy, Duchenne PMID:16122628|REF_RGD_ID:11565083 12014166 F2 coagulation factor II, thrombin gene DOID:9002165 Diabetic Nephropathies ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:polymorphism: :20210G>A(human) PMID:21574459|REF_RGD_ID:6893575 12014166 F2 coagulation factor II, thrombin gene DOID:9002165 Diabetic Nephropathies ISO RGD:1353256 D RGD:9068941 20201127 RGD protein:increased expression:plasma (human) PMID:14983223|REF_RGD_ID:2313643 12014166 F2 coagulation factor II, thrombin gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21955218|REF_RGD_ID:6893574 12014166 F2 coagulation factor II, thrombin gene DOID:9002211 Hyperalgesia ISO RGD:62288 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:16251448|REF_RGD_ID:7387272 12014166 F2 coagulation factor II, thrombin gene DOID:9002315 Kidney Calculi susceptibility ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:haplotypes: : PMID:21067798|REF_RGD_ID:6893526 12014166 F2 coagulation factor II, thrombin gene DOID:9002331 Knee Osteoarthritis ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21041276|REF_RGD_ID:5147774 12014166 F2 coagulation factor II, thrombin gene DOID:9002457 Experimental Arthritis ISO RGD:62288 D RGD:9068941 20200609 RGD PMID:21436072|REF_RGD_ID:5147764 12014166 F2 coagulation factor II, thrombin gene DOID:9002676 Cerebral Hemorrhage severity ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21244583|REF_RGD_ID:5147770 12014166 F2 coagulation factor II, thrombin gene DOID:9002955 Nerve Degeneration ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19969022 12014166 F2 coagulation factor II, thrombin gene DOID:9003049 Femur Head Necrosis ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with kidney transplantation;20210G>A(human) PMID:16968732|REF_RGD_ID:6902907 12014166 F2 coagulation factor II, thrombin gene DOID:9003121 Thromboembolism ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14693181 12014166 F2 coagulation factor II, thrombin gene DOID:9003121 Thromboembolism ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:11471205|REF_RGD_ID:1580340 12014166 F2 coagulation factor II, thrombin gene DOID:9003121 Thromboembolism ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with coronary artery disease; DNA:polymorphism: :20210G>A(human) PMID:21955693|REF_RGD_ID:6893596 12014166 F2 coagulation factor II, thrombin gene DOID:9003121 Thromboembolism ISO RGD:1353256 D RGD:9068941 20201127 RGD associated with infective endocarditis;protein:increased expression:blood plasma (human) PMID:15049384|REF_RGD_ID:40819860 12014166 F2 coagulation factor II, thrombin gene DOID:9003281 Spontaneous Abortions ISO RGD:1353256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 2 PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:15059842|PMID:15534175|PMID:16493002|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:28492532|PMID:6305407|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 12014166 F2 coagulation factor II, thrombin gene DOID:9003311 Urinary Calculi ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:22494008|REF_RGD_ID:6893519 12014166 F2 coagulation factor II, thrombin gene DOID:9003505 Venous Thromboembolism ISO RGD:1353256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Venous thromboembolism PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:15059842|PMID:15534175|PMID:16493002|PMID:16606808|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:2825773|PMID:28492532|PMID:28707429|PMID:30297698|PMID:34110897|PMID:34355501|PMID:6305407|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 12014166 F2 coagulation factor II, thrombin gene DOID:9003565 Paratuberculosis ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22633222 12014166 F2 coagulation factor II, thrombin gene DOID:9003871 Venous Thrombosis ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12296757|PMID:19920886|PMID:9869612 12014166 F2 coagulation factor II, thrombin gene DOID:9003871 Venous Thrombosis ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:9409269|REF_RGD_ID:1580342 12014166 F2 coagulation factor II, thrombin gene DOID:9003871 Venous Thrombosis ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:23535565|REF_RGD_ID:10449430 12014166 F2 coagulation factor II, thrombin gene DOID:9004009 Reperfusion Injury ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:20705928|REF_RGD_ID:5147777 12014166 F2 coagulation factor II, thrombin gene DOID:9004082 Mesenteric Ischemia ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24282370 12014166 F2 coagulation factor II, thrombin gene DOID:9004484 Sepsis ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:12361199|REF_RGD_ID:10449428 12014166 F2 coagulation factor II, thrombin gene DOID:9004484 Sepsis treatment ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:19705256|REF_RGD_ID:7387324 12014166 F2 coagulation factor II, thrombin gene DOID:9004610 Acute Lung Injury ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:22804886|REF_RGD_ID:7387313 12014166 F2 coagulation factor II, thrombin gene DOID:9005166 Contusions ISO RGD:61996 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries;mRNA:increased expression:spinal cord PMID:11186232|REF_RGD_ID:7387307 12014166 F2 coagulation factor II, thrombin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:62288 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:15990447|REF_RGD_ID:2313862 12014166 F2 coagulation factor II, thrombin gene DOID:9005930 Endotoxemia ISO RGD:1353256 D RGD:9068941 20201203 RGD protein:increased expression:blood plasma (human) PMID:10887118|REF_RGD_ID:40818427 12014166 F2 coagulation factor II, thrombin gene DOID:9005930 Endotoxemia ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:20519137|PMID:21396682|PMID:22227956|REF_RGD_ID:5147765|REF_RGD_ID:5147779|REF_RGD_ID:6893482 12014166 F2 coagulation factor II, thrombin gene DOID:9005930 Endotoxemia severity ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with liver cirrhosis;protein:increased expression:plasma (human) PMID:9863491|REF_RGD_ID:14401592 12014166 F2 coagulation factor II, thrombin gene DOID:9005930 Endotoxemia severity ISO RGD:1353256 D RGD:9068941 20201203 RGD associated with liver cirrhosis;protein:increased expression:blood plasma (human) PMID:7615203|REF_RGD_ID:14974253 12014166 F2 coagulation factor II, thrombin gene DOID:9005930 Endotoxemia treatment ISO RGD:1353256 D RGD:9068941 20201203 RGD PMID:10604885|REF_RGD_ID:40818436 12014166 F2 coagulation factor II, thrombin gene DOID:9005930 Endotoxemia treatment ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:25396762|REF_RGD_ID:10449434 12014166 F2 coagulation factor II, thrombin gene DOID:9007075 Congenital Prothrombin Deficiency ISO RGD:1353256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital prothrombin deficiency | ClinVar Annotator: match by term: Hereditary factor II deficiency disease | ClinVar Annotator: match by term: Prolonged prothrombin time PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:10651742|PMID:11154146|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:12149217|PMID:13217497|PMID:13228032|PMID:1349838|PMID:1421398|PMID:14489469|PMID:15059842|PMID:15534175|PMID:1557383|PMID:16487178|PMID:16493002|PMID:16606808|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19598065|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:2719946|PMID:2825773|PMID:28492532|PMID:28707429|PMID:30297698|PMID:31064749|PMID:3242619|PMID:34110897|PMID:34355501|PMID:3567158|PMID:3771562|PMID:3801671|PMID:444582|PMID:6085205|PMID:625142|PMID:6305407|PMID:6405779|PMID:7740448|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 12014166 F2 coagulation factor II, thrombin gene DOID:9007075 Congenital Prothrombin Deficiency susceptibility ISO RGD:1353256 D RGD:7240710 20230517 OMIM 12014166 F2 coagulation factor II, thrombin gene DOID:9007096 Stroke ISO RGD:1353256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CEREBROVASCULAR ACCIDENT PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:15059842|PMID:15534175|PMID:16493002|PMID:16606808|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:2825773|PMID:28492532|PMID:28707429|PMID:30297698|PMID:34110897|PMID:34355501|PMID:6305407|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 12014166 F2 coagulation factor II, thrombin gene DOID:9007153 Pediatric Crohn's Disease ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21287673|REF_RGD_ID:5147769 12014166 F2 coagulation factor II, thrombin gene DOID:9007329 Human Viral Hepatitis disease_progression ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21805422|REF_RGD_ID:5147782 12014166 F2 coagulation factor II, thrombin gene DOID:9007367 Septic Peritonitis severity ISO RGD:62288 D RGD:9068941 20201127 RGD PMID:18927430|REF_RGD_ID:40818433 12014166 F2 coagulation factor II, thrombin gene DOID:9007479 Habitual Abortions ISO RGD:1353256 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 2 PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:15059842|PMID:15534175|PMID:16493002|PMID:16606808|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:2825773|PMID:28492532|PMID:28707429|PMID:30297698|PMID:34110897|PMID:34355501|PMID:6305407|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 12014166 F2 coagulation factor II, thrombin gene DOID:9007479 Habitual Abortions susceptibility ISO RGD:1353256 D RGD:7240710 20230517 OMIM 12014166 F2 coagulation factor II, thrombin gene DOID:9007874 Liver Failure ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18618250 12014166 F2 coagulation factor II, thrombin gene DOID:9007874 Liver Failure severity ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with liver cirrhosis;protein:increased expression:blood plasma (human) PMID:7615203|REF_RGD_ID:14974253 12014166 F2 coagulation factor II, thrombin gene DOID:9008217 Hemorrhage ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7740448 12014166 F2 coagulation factor II, thrombin gene DOID:9008217 Hemorrhage ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:20664909|REF_RGD_ID:10449431 12014166 F2 coagulation factor II, thrombin gene DOID:9008217 Hemorrhage ISO RGD:61996 D RGD:9068941 20200609 RGD associated with Wounds and Injuries PMID:23481505|REF_RGD_ID:10449433 12014166 F2 coagulation factor II, thrombin gene DOID:9008217 Hemorrhage ISO RGD:62288 D RGD:9068941 20200609 RGD PMID:9636195|REF_RGD_ID:734956 12014166 F2 coagulation factor II, thrombin gene DOID:9074 systemic lupus erythematosus ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:20807656|REF_RGD_ID:5147776 12014166 F2 coagulation factor II, thrombin gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:SNP: :19911A>G (rs3136516) (human) PMID:21239755|REF_RGD_ID:5147772 12014166 F2 coagulation factor II, thrombin gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:16046705|REF_RGD_ID:1601105 12014166 F2 coagulation factor II, thrombin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with Myocardial Infarction PMID:18487475|REF_RGD_ID:2313851 12014166 F2 coagulation factor II, thrombin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17971179|REF_RGD_ID:2313852 12014166 F2 coagulation factor II, thrombin gene DOID:9452 fatty liver disease ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008134 12014166 F2 coagulation factor II, thrombin gene DOID:9477 pulmonary embolism no_association ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:20221C>T (human) PMID:25316662|REF_RGD_ID:10449427 12014166 F2 coagulation factor II, thrombin gene DOID:9477 pulmonary embolism susceptibility ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:19911A>G (human) PMID:25316662|REF_RGD_ID:10449427 12014166 F2 coagulation factor II, thrombin gene DOID:9540 vascular skin disease ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17535202 12014166 F2 coagulation factor II, thrombin gene DOID:9970 obesity ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22841818 12014166 F2 coagulation factor II, thrombin gene DOID:9970 obesity ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21210148|REF_RGD_ID:5147773 12014166 F2 coagulation factor II, thrombin gene DOID:9970 obesity ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:23628972|REF_RGD_ID:7387310 12014166 F2 coagulation factor II, thrombin gene DOID:9970 obesity ISO RGD:62288 D RGD:9068941 20200609 RGD PMID:23628972|REF_RGD_ID:7387310 12014184 ZSCAN29 zinc finger and SCAN domain containing 29 gene DOID:2717 Bloom syndrome ISO RGD:1605867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12014184 ZSCAN29 zinc finger and SCAN domain containing 29 gene DOID:630 genetic disease ISO RGD:1605867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014184 ZSCAN29 zinc finger and SCAN domain containing 29 gene DOID:9256 colorectal cancer ISO RGD:1605867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12014202 TOMM22 translocase of outer mitochondrial membrane 22 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1342792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12014202 TOMM22 translocase of outer mitochondrial membrane 22 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1342792 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12014202 TOMM22 translocase of outer mitochondrial membrane 22 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1342792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12014202 TOMM22 translocase of outer mitochondrial membrane 22 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1342792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12014202 TOMM22 translocase of outer mitochondrial membrane 22 gene DOID:630 genetic disease ISO RGD:1342792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014210 DCTN6 dynactin subunit 6 gene DOID:630 genetic disease ISO RGD:1316808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014227 LOC100981146 cytokine receptor like factor 2 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1352132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24141364 12014227 LOC100981146 cytokine receptor like factor 2 gene DOID:12849 autistic disorder ISO RGD:1352132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12014227 LOC100981146 cytokine receptor like factor 2 gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features ISO RGD:1352132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features PMID:19907440|PMID:19965641|PMID:20018760|PMID:22368272 12014227 LOC100981146 cytokine receptor like factor 2 gene DOID:9002801 Recurrence ISO RGD:1352132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22904298 12014227 LOC100981146 cytokine receptor like factor 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1352132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838194 12014228 MANSC4 MANSC domain containing 4 gene DOID:630 genetic disease ISO RGD:5132067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014235 MILR1 mast cell immunoglobulin like receptor 1 gene DOID:0080600 COVID-19 ISO RGD:1605249 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12014235 MILR1 mast cell immunoglobulin like receptor 1 gene DOID:0111525 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ISO RGD:1605249 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 PMID:16685652|PMID:21555342|PMID:22155748|PMID:22176657|PMID:23197651|PMID:23596069|PMID:24033266|PMID:25741868|PMID:26123486|PMID:26251896|PMID:27535533|PMID:27592148|PMID:28078310|PMID:28492532|PMID:29625556|PMID:30157269 12014235 MILR1 mast cell immunoglobulin like receptor 1 gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:1605249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions PMID:21555342|PMID:25741868|PMID:28492532 12014235 MILR1 mast cell immunoglobulin like receptor 1 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1605249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 12014235 MILR1 mast cell immunoglobulin like receptor 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1605249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:21555342|PMID:22155748|PMID:22176657|PMID:23197651|PMID:23596069|PMID:24033266|PMID:25741868|PMID:26123486|PMID:26251896|PMID:27535533|PMID:28492532|PMID:31286721 12014235 MILR1 mast cell immunoglobulin like receptor 1 gene DOID:630 genetic disease ISO RGD:1605249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12014235 MILR1 mast cell immunoglobulin like receptor 1 gene DOID:9002169 MITOCHONDRIAL DNA DEPLETION SYNDROME 16B ISO RGD:1605249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) PMID:25741868|PMID:28492532 12014235 MILR1 mast cell immunoglobulin like receptor 1 gene DOID:9004590 Acute Liver Failure ISO RGD:1605249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute hepatic failure PMID:25741868|PMID:27592148|PMID:28492532|PMID:30157269 12014235 MILR1 mast cell immunoglobulin like receptor 1 gene DOID:9008345 Mitochondrial DNA Depletion Syndrome 16 ISO RGD:1605249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 16 (hepatic type) PMID:25741868|PMID:28492532 12014248 UBE2S ubiquitin conjugating enzyme E2 S gene DOID:630 genetic disease ISO RGD:1343646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014256 CFDP1 craniofacial development protein 1 gene DOID:2565 macular corneal dystrophy ISO RGD:1346060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 12014256 CFDP1 craniofacial development protein 1 gene DOID:607 paraplegia ISO RGD:1346060 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12014256 CFDP1 craniofacial development protein 1 gene DOID:630 genetic disease ISO RGD:1346060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014268 LOC100983753 nuclear envelope pore membrane protein POM 121C gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2290521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12014268 LOC100983753 nuclear envelope pore membrane protein POM 121C gene DOID:630 genetic disease ISO RGD:2290521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014268 LOC100983753 nuclear envelope pore membrane protein POM 121C gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:2290521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 12014284 ATAD2 ATPase family AAA domain containing 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1312522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12014284 ATAD2 ATPase family AAA domain containing 2 gene DOID:630 genetic disease ISO RGD:1312522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014320 TDRP testis development related protein gene DOID:630 genetic disease ISO RGD:1602978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014329 STMP1 short transmembrane mitochondrial protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:5480038 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12014334 CGAS cyclic GMP-AMP synthase gene DOID:3659 sialuria ISO RGD:1353865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 12014334 CGAS cyclic GMP-AMP synthase gene DOID:630 genetic disease ISO RGD:1353865 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014343 LOC100991996 olfactory receptor 2Y1 gene DOID:630 genetic disease ISO RGD:1606719 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014348 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1319911 D RGD:9068941 20221117 RGD DNA:deletions:multiple: (human) PMID:28464518|REF_RGD_ID:155663379 12014348 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1319911 D RGD:9068941 20221117 RGD DNA:nonsense mutation:exon:c.1039 C>T, p.R347X (human) PMID:29700987|REF_RGD_ID:155663377 12014348 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:0080846 latent autoimmune diabetes in adults ISO RGD:1319911 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 5 PMID:15123604|PMID:15247916|PMID:15678134|PMID:15678135|PMID:15678137 12014348 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:0110744 type 1 diabetes mellitus 5 ISO RGD:1319911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 5 PMID:15123604|PMID:15247916|PMID:15678134|PMID:15678135|PMID:15678137 12014348 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319911 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28386937|PMID:28492532|PMID:31250519 12014348 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:1682 congenital heart disease ISO RGD:1319911 D RGD:9068941 20221111 RGD DNA:mutations:cds:multiple (human) PMID:36229919|REF_RGD_ID:155663359 12014348 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:2152 ovary epithelial cancer susceptibility ISO RGD:1319911 D RGD:9068941 20221117 RGD DNA:SNP:CDS:rs237028 (human) PMID:31485280|REF_RGD_ID:155663376 12014348 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1319912 D RGD:9068941 20221117 RGD mRNA, protein:increased expression:lung (mouse) PMID:34331613|REF_RGD_ID:155663371 12014348 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:1319912 D RGD:9068941 20221117 RGD PMID:32506869|REF_RGD_ID:155663374 12014348 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1319911 D RGD:9068941 20221117 RGD mRNA:increased expression:lung (human) PMID:34551195|REF_RGD_ID:155663369 12014348 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:630 genetic disease ISO RGD:1319911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25326635|PMID:25741868|PMID:28492532 12014348 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:6364 migraine ISO RGD:1319911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Migraine PMID:25741868|PMID:28386937|PMID:28492532|PMID:29700987|PMID:31250519 12014348 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1319911 D RGD:9068941 20221117 RGD mRNA, protein:increased expression:synovial (human) PMID:22660635|REF_RGD_ID:155663483 12014348 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:9004994 Embryo Loss ISO RGD:1319912 D RGD:9068941 20221117 RGD PMID:22972987|REF_RGD_ID:155663421 12014348 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:9007753 Congenital Heart Defects, Multiple Types, 2 ISO RGD:1319911 D RGD:7240710 20180130 OMIM 12014348 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:9007753 Congenital Heart Defects, Multiple Types, 2 ISO RGD:1319911 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 2 PMID:20493459|PMID:25326635|PMID:25741868|PMID:27452334|PMID:28386937|PMID:28492532|PMID:31250519|PMID:31959127|PMID:32860008 12014348 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:9008565 Congenital Heart Defects, Multiple Types ISO RGD:1319911 D RGD:9068941 20221117 RGD DNA:mutation, translocation:cds:c.622C>T p.Pro208Ser|c.688C>A p.Gln230Lys, t(2;6)(q21;q25) PMID:20493459|REF_RGD_ID:155663487 12014348 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:1319911 D RGD:9068941 20221117 RGD mRNA, protein:increased expression:kidney (human) PMID:22660635|REF_RGD_ID:155663483 12014348 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:936 brain disease ISO RGD:1319911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25326635|PMID:25741868 12014361 GRIP2 glutamate receptor interacting protein 2 gene DOID:0060417 3p deletion syndrome ISO RGD:1354510 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12014361 GRIP2 glutamate receptor interacting protein 2 gene DOID:630 genetic disease ISO RGD:1354510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014399 NEU1 neuraminidase 1 gene DOID:0050553 JMP syndrome ISO RGD:735984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12014399 NEU1 neuraminidase 1 gene DOID:3343 glycoproteinosis ISO RGD:735984 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Sialidosis PMID:10767332|PMID:10944856|PMID:11063730|PMID:11470272|PMID:11702224|PMID:11829139|PMID:14517945|PMID:14695530|PMID:15908988|PMID:16538002|PMID:16712870|PMID:17576681|PMID:18343720|PMID:19415310|PMID:21214877|PMID:24808020|PMID:25153125|PMID:25401298|PMID:25741868|PMID:28492532|PMID:30941624|PMID:32453490|PMID:32472645|PMID:32485644|PMID:32752208|PMID:33502066|PMID:35036219|PMID:9054950|PMID:9536098 12014399 NEU1 neuraminidase 1 gene DOID:3343 glycoproteinosis ISO RGD:735984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy | ClinVar Annotator: match by term: Sialidosis PMID:10767332|PMID:10944856|PMID:11063730|PMID:11279074|PMID:11470272|PMID:11702224|PMID:11829139|PMID:14517945|PMID:14695530|PMID:15908988|PMID:16538002|PMID:16712870|PMID:17576681|PMID:18343720|PMID:19415310|PMID:19568825|PMID:21214877|PMID:24808020|PMID:25153125|PMID:25401298|PMID:25741868|PMID:26141460|PMID:28492532|PMID:29018767|PMID:29414417|PMID:30023283|PMID:30941624|PMID:32453490|PMID:32472645|PMID:32485644|PMID:32752208|PMID:33502066|PMID:35036219|PMID:9054950|PMID:9536098 12014399 NEU1 neuraminidase 1 gene DOID:3343 glycoproteinosis ISO RGD:735984 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Sialidosis PMID:10767332|PMID:10944856|PMID:11063730|PMID:11279074|PMID:11470272|PMID:11702224|PMID:11829139|PMID:14517945|PMID:14695530|PMID:15908988|PMID:16538002|PMID:16712870|PMID:17576681|PMID:18343720|PMID:19415310|PMID:19568825|PMID:21214877|PMID:24808020|PMID:25153125|PMID:25401298|PMID:25741868|PMID:26141460|PMID:28492532|PMID:29018767|PMID:29414417|PMID:30023283|PMID:30548430|PMID:30941624|PMID:31711734|PMID:32453490|PMID:32472645|PMID:32485644|PMID:32752208|PMID:33121223|PMID:33502066|PMID:35036219|PMID:9054950|PMID:9536098 12014399 NEU1 neuraminidase 1 gene DOID:630 genetic disease ISO RGD:735984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21214877|PMID:24767253|PMID:25153125|PMID:25323282|PMID:27848944|PMID:28492532 12014399 NEU1 neuraminidase 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:735984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 12014399 NEU1 neuraminidase 1 gene DOID:9008118 Neuraminidase Deficiency ISO RGD:735984 D RGD:7240710 20180130 OMIM 12014399 NEU1 neuraminidase 1 gene DOID:9008118 Neuraminidase Deficiency ISO RGD:735984 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuraminidase 1 deficiency | ClinVar Annotator: match by term: Sialidase deficiency | ClinVar Annotator: match by term: Sialidosis type I PMID:10767332|PMID:10944856|PMID:11063730|PMID:11279074|PMID:11470272|PMID:11702224|PMID:11829139|PMID:14517945|PMID:14695530|PMID:15908988|PMID:16538002|PMID:17576681|PMID:19415310|PMID:19568825|PMID:21214877|PMID:24808020|PMID:25153125|PMID:25401298|PMID:25741868|PMID:26141460|PMID:28492532|PMID:32453490|PMID:32485644|PMID:33121223|PMID:33502066|PMID:35036219|PMID:9054950|PMID:9536098 12014399 NEU1 neuraminidase 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:735984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal edema 12014409 SRSF9 serine and arginine rich splicing factor 9 gene DOID:11054 urinary bladder cancer ISO RGD:1319864 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder epithelium (human) PMID:22178073|REF_RGD_ID:11040443 12014409 SRSF9 serine and arginine rich splicing factor 9 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1319864 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12014409 SRSF9 serine and arginine rich splicing factor 9 gene DOID:630 genetic disease ISO RGD:1319864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014409 SRSF9 serine and arginine rich splicing factor 9 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1319864 D RGD:9068941 20200609 RGD PMID:20616573|REF_RGD_ID:11040805 12014417 THEMIS thymocyte selection associated gene DOID:0050589 inflammatory bowel disease ISO RGD:1560849 D RGD:9068941 20200917 RGD DNA:frameshift mutation: PMID:22275874|REF_RGD_ID:38599149 12014417 THEMIS thymocyte selection associated gene DOID:10608 celiac disease ISO RGD:1603481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 12014417 THEMIS thymocyte selection associated gene DOID:630 genetic disease ISO RGD:1603481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014417 THEMIS thymocyte selection associated gene DOID:9008671 T-Lymphocytopenia ISO RGD:1560849 D RGD:9068941 20200917 RGD DNA:frameshift mutation: PMID:22275874|REF_RGD_ID:38599149 12014439 SULT2B1 sulfotransferase family 2B member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1318906 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12014439 SULT2B1 sulfotransferase family 2B member 1 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 ISO RGD:1318906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 PMID:28575648 12014439 SULT2B1 sulfotransferase family 2B member 1 gene DOID:0060710 autosomal recessive congenital ichthyosis 2 ISO RGD:1318906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 PMID:17496163|PMID:28575648 12014439 SULT2B1 sulfotransferase family 2B member 1 gene DOID:0080258 autosomal recessive congenital ichthyosis 14 ISO RGD:1318906 D RGD:7240710 20190315 OMIM 12014439 SULT2B1 sulfotransferase family 2B member 1 gene DOID:0080258 autosomal recessive congenital ichthyosis 14 ISO RGD:1318906 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 14 PMID:17496163|PMID:25741868|PMID:28492532|PMID:28575648 12014439 SULT2B1 sulfotransferase family 2B member 1 gene DOID:13580 cholestasis ISO RGD:1318906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27052460 12014439 SULT2B1 sulfotransferase family 2B member 1 gene DOID:630 genetic disease ISO RGD:1318906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12014439 SULT2B1 sulfotransferase family 2B member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21716162 12014439 SULT2B1 sulfotransferase family 2B member 1 gene DOID:9005372 Inflammation ISO RGD:1318906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27052460 12014439 SULT2B1 sulfotransferase family 2B member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1318906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27052460 12014439 SULT2B1 sulfotransferase family 2B member 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1318906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25437045 12014439 SULT2B1 sulfotransferase family 2B member 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29766219 12014449 ZNF672 zinc finger protein 672 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1602674 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12014449 ZNF672 zinc finger protein 672 gene DOID:630 genetic disease ISO RGD:1602674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014450 LOC100994139 folate receptor alpha gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1346305 D RGD:7240710 20180130 OMIM 12014450 LOC100994139 folate receptor alpha gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1346305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:16199547|PMID:17576681|PMID:18842806|PMID:19732866|PMID:20018644|PMID:20683905|PMID:21752681|PMID:21937992|PMID:22586289|PMID:22695967|PMID:24091540|PMID:24556562|PMID:25741868|PMID:26467025|PMID:27328863|PMID:27535533|PMID:27781028|PMID:27884173|PMID:28054128|PMID:28492532|PMID:29661558|PMID:29961769|PMID:9536098 12014450 LOC100994139 folate receptor alpha gene DOID:0080074 neural tube defect ISO RGD:1346305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15800851 12014450 LOC100994139 folate receptor alpha gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1346305 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12014450 LOC100994139 folate receptor alpha gene DOID:1059 intellectual disability ISO RGD:1346305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12014450 LOC100994139 folate receptor alpha gene DOID:1682 congenital heart disease ISO RGD:1346305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17286298 12014450 LOC100994139 folate receptor alpha gene DOID:1826 epilepsy ISO RGD:1346305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:21937992|PMID:25741868|PMID:27535533|PMID:27884173|PMID:28492532|PMID:29661558|PMID:29961769 12014450 LOC100994139 folate receptor alpha gene DOID:3347 osteosarcoma ISO RGD:1346305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17473184 12014450 LOC100994139 folate receptor alpha gene DOID:480 movement disease ISO RGD:1346305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19732866 12014450 LOC100994139 folate receptor alpha gene DOID:630 genetic disease ISO RGD:1346305 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16453285|PMID:18842806|PMID:20683905|PMID:21937992|PMID:22586289|PMID:22695967|PMID:23851396|PMID:23934049|PMID:25274592|PMID:25741868|PMID:26467025|PMID:27458733|PMID:27535533|PMID:27781028|PMID:27884173|PMID:28492532|PMID:29661558|PMID:29961769|PMID:7578066|PMID:9063895 12014450 LOC100994139 folate receptor alpha gene DOID:9001793 Generalized Epilepsy ISO RGD:1346305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 12014450 LOC100994139 folate receptor alpha gene DOID:9002762 Ovarian Neoplasms ISO RGD:1346305 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17466904 12014450 LOC100994139 folate receptor alpha gene DOID:9002928 Colonic Neoplasms ISO RGD:1346305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15705887|PMID:18926688 12014450 LOC100994139 folate receptor alpha gene DOID:9005683 Metabolic Brain Diseases, Inborn ISO RGD:1346305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19732866 12014450 LOC100994139 folate receptor alpha gene DOID:9005835 Congenital Abnormalities ISO RGD:1346305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20235221 12014450 LOC100994139 folate receptor alpha gene DOID:9008514 Psychomotor Disorders ISO RGD:1346305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19732866 12014450 LOC100994139 folate receptor alpha gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1346305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15800851 12014450 LOC100994139 folate receptor alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:25227144 12014468 MTCH2 mitochondrial carrier 2 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1317645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12014468 MTCH2 mitochondrial carrier 2 gene DOID:0080600 COVID-19 ISO RGD:1317645 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12014468 MTCH2 mitochondrial carrier 2 gene DOID:1059 intellectual disability ISO RGD:1317645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12014468 MTCH2 mitochondrial carrier 2 gene DOID:630 genetic disease ISO RGD:1317645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014468 MTCH2 mitochondrial carrier 2 gene DOID:9970 obesity ISO RGD:1317645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19079261 12014489 TPH1 tryptophan hydroxylase 1 gene DOID:0060249 scoliosis ISO RGD:735482 D RGD:9068941 20200609 RGD DNA:SNP:promoter: (rs10488682) (human) PMID:18794762|REF_RGD_ID:5686347 12014489 TPH1 tryptophan hydroxylase 1 gene DOID:0060249 scoliosis no_association ISO RGD:735482 D RGD:9068941 20200609 RGD DNA:SNP:promoter: (rs10488682) (human) PMID:21308753|REF_RGD_ID:5686349 12014489 TPH1 tryptophan hydroxylase 1 gene DOID:0060249 scoliosis no_association ISO RGD:735482 D RGD:9068941 20200609 RGD DNA:SNPs:multiple PMID:21192222|REF_RGD_ID:5686348 12014489 TPH1 tryptophan hydroxylase 1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:735482 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 12014489 TPH1 tryptophan hydroxylase 1 gene DOID:1059 intellectual disability ISO RGD:735482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12014489 TPH1 tryptophan hydroxylase 1 gene DOID:10652 Alzheimer's disease ISO RGD:735482 D RGD:9068941 20200609 RGD PMID:15182943|REF_RGD_ID:1580467 12014489 TPH1 tryptophan hydroxylase 1 gene DOID:10930 borderline personality disorder ISO RGD:735482 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :multiple PMID:16495936|REF_RGD_ID:5686357 12014489 TPH1 tryptophan hydroxylase 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:735482 D RGD:9068941 20200609 RGD DNA:missense mutations:exons:multiple PMID:20921119|REF_RGD_ID:5686345 12014489 TPH1 tryptophan hydroxylase 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:735482 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-6526A>G, 218A>C (human) PMID:16389593|REF_RGD_ID:1580457 12014489 TPH1 tryptophan hydroxylase 1 gene DOID:1574 alcohol use disorder ISO RGD:735482 D RGD:9068941 20200609 RGD PMID:15654285|REF_RGD_ID:1580464 12014489 TPH1 tryptophan hydroxylase 1 gene DOID:1596 depressive disorder ISO RGD:3895 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:hippocampus: PMID:24495952|REF_RGD_ID:9681459 12014489 TPH1 tryptophan hydroxylase 1 gene DOID:1596 depressive disorder ISO RGD:735482 D RGD:9068941 20200609 RGD PMID:16165107|REF_RGD_ID:1580459 12014489 TPH1 tryptophan hydroxylase 1 gene DOID:1596 depressive disorder ISO RGD:735482 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:intron:218A>C, 779A>C (human) PMID:17134762|REF_RGD_ID:5686354 12014489 TPH1 tryptophan hydroxylase 1 gene DOID:5419 schizophrenia ISO RGD:735482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 12014489 TPH1 tryptophan hydroxylase 1 gene DOID:5419 schizophrenia ISO RGD:735482 D RGD:9068941 20200609 RGD PMID:15211625|REF_RGD_ID:1580466 12014489 TPH1 tryptophan hydroxylase 1 gene DOID:630 genetic disease ISO RGD:735482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12014489 TPH1 tryptophan hydroxylase 1 gene DOID:6432 pulmonary hypertension ISO RGD:735482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18506000 12014489 TPH1 tryptophan hydroxylase 1 gene DOID:6432 pulmonary hypertension severity ISO RGD:735483 D RGD:9068941 20200609 RGD PMID:17675372|REF_RGD_ID:5686352 12014489 TPH1 tryptophan hydroxylase 1 gene DOID:9000784 Fibrosis ISO RGD:735483 D RGD:9068941 20200609 RGD PMID:21518801|REF_RGD_ID:5686344 12014489 TPH1 tryptophan hydroxylase 1 gene DOID:9001310 Tobacco Use Disorder ISO RGD:735482 D RGD:9068941 20200609 RGD PMID:15635702|REF_RGD_ID:1580461 12014489 TPH1 tryptophan hydroxylase 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:735482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 12014489 TPH1 tryptophan hydroxylase 1 gene DOID:9478 postpartum depression ISO RGD:735482 D RGD:9068941 20200609 RGD PMID:15544576|REF_RGD_ID:1580465 12014530 ZNF264 zinc finger protein 264 gene DOID:630 genetic disease ISO RGD:1348682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014566 LOC100968476 olfactory receptor 1K1 gene DOID:630 genetic disease ISO RGD:1352434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014571 PSEN1 presenilin 1 gene DOID:0050700 cardiomyopathy ISO RGD:731724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29068127 12014571 PSEN1 presenilin 1 gene DOID:0081292 traumatic brain injury ISO RGD:735973 D RGD:9068941 20200609 RGD PMID:18240300|REF_RGD_ID:13801189 12014571 PSEN1 presenilin 1 gene DOID:0110040 Alzheimer's disease 4 ISO RGD:731724 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Alzheimer disease 4 PMID:10468510|PMID:11395394|PMID:12552037|PMID:14743455|PMID:15205973|PMID:16267640|PMID:17188713|PMID:20301414|PMID:23539189|PMID:25108559|PMID:26410308|PMID:26467025|PMID:27014028|PMID:27777022|PMID:27930341|PMID:28350801|PMID:28492532|PMID:29494861|PMID:29661148|PMID:30045758|PMID:30528841|PMID:30598257|PMID:31109937|PMID:32917274|PMID:34389718|PMID:8910898|PMID:9189043|PMID:9437013|PMID:9804121 12014571 PSEN1 presenilin 1 gene DOID:0110042 Alzheimer's disease 3 ISO RGD:731724 D RGD:7240710 20180130 OMIM 12014571 PSEN1 presenilin 1 gene DOID:0110042 Alzheimer's disease 3 ISO RGD:731724 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Alzheimer disease 3 | ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance PMID:10090481|PMID:10327206|PMID:10401002|PMID:10430510|PMID:10441572|PMID:10448055|PMID:10468510|PMID:10525535|PMID:10548420|PMID:10594046|PMID:10631141|PMID:10643802|PMID:10720282|PMID:10764737|PMID:10811883|PMID:11027672|PMID:11070093|PMID:11079548|PMID:11094121|PMID:11094128|PMID:11102478|PMID:11124426|PMID:11126202|PMID:11198283|PMID:11389157|PMID:11395394|PMID:11402113|PMID:11432849|PMID:11504726|PMID:11524469|PMID:11568920|PMID:11684347|PMID:11710891|PMID:11796781|PMID:11836371|PMID:11895378|PMID:11959395|PMID:11978814|PMID:12048239|PMID:12119298|PMID:12192622|PMID:12370477|PMID:12433263|PMID:12484344|PMID:12493737|PMID:12552037|PMID:12660785|PMID:12752408|PMID:12805290|PMID:12810495|PMID:12817569|PMID:12885573|PMID:12891668|PMID:14557582|PMID:14743455|PMID:14769392|PMID:14966176|PMID:15003276|PMID:15004326|PMID:15115757|PMID:15122701|PMID:15205973|PMID:15337637|PMID:15534260|PMID:15622541|PMID:15718035|PMID:15772361|PMID:15776278|PMID:16033913|PMID:16116115|PMID:16216949|PMID:16227967|PMID:16267640|PMID:16344340|PMID:16533963|PMID:16534109|PMID:16628450|PMID:16651627|PMID:16669732|PMID:16710641|PMID:16752394|PMID:16805926|PMID:16897084|PMID:16923167|PMID:16930450|PMID:16941492|PMID:16952411|PMID:17108687|PMID:17186461|PMID:17254019|PMID:17320044|PMID:17366635|PMID:17431506|PMID:17493013|PMID:17502474|PMID:17553989|PMID:17576681|PMID:17615170|PMID:17854491|PMID:17931627|PMID:17962197|PMID:17968601|PMID:18350357|PMID:18525293|PMID:18580586|PMID:18587238|PMID:18637955|PMID:18667258|PMID:18797263|PMID:19005074|PMID:19021905|PMID:19111578|PMID:19196715|PMID:19276550|PMID:19276551|PMID:19457079|PMID:19555742|PMID:19659892|PMID:19667325|PMID:19849793|PMID:1985297|PMID:19915487|PMID:20047059|PMID:20083199|PMID:20145736|PMID:20157243|PMID:20164095|PMID:20194882|PMID:2025423|PMID:20301414|PMID:20332427|PMID:20484632|PMID:20628413|PMID:20634584|PMID:20729396|PMID:21094210|PMID:21357415|PMID:21373759|PMID:21685457|PMID:21725313|PMID:21726674|PMID:21822699|PMID:21919498|PMID:21952501|PMID:21959359|PMID:22118943|PMID:22188655|PMID:22232349|PMID:22306804|PMID:22312439|PMID:22343824|PMID:22426017|PMID:22460587|PMID:22461631|PMID:22475797|PMID:22503161|PMID:22505025|PMID:22508690|PMID:22572737|PMID:22581678|PMID:22584618|PMID:22689192|PMID:22810102|PMID:22906081|PMID:23085935|PMID:23114514|PMID:23341831|PMID:23380992|PMID:23383383|PMID:23409063|PMID:23539189|PMID:23570890|PMID:23579325|PMID:23588422|PMID:23705774|PMID:23861362|PMID:23885714|PMID:23990795|PMID:24093083|PMID:24121961|PMID:24158021|PMID:24304563|PMID:24352661|PMID:24463146|PMID:24698269|PMID:24860142|PMID:24928124|PMID:25182737|PMID:25239621|PMID:25299611|PMID:25326637|PMID:25333068|PMID:25471389|PMID:25741868|PMID:25921538|PMID:25937274|PMID:25959826|PMID:26051801|PMID:26166206|PMID:26214276|PMID:26242991|PMID:26243271|PMID:26337232|PMID:26438723|PMID:26462451|PMID:26467025|PMID:26481686|PMID:26756738|PMID:26826204|PMID:26888304|PMID:26925509|PMID:27014058|PMID:27073747|PMID:27264813|PMID:27312774|PMID:27345973|PMID:27357204|PMID:27454811|PMID:27535542|PMID:27540966|PMID:27614114|PMID:27622770|PMID:27644130|PMID:27777022|PMID:27810638|PMID:27836335|PMID:27930341|PMID:28269784|PMID:28323683|PMID:28350801|PMID:28492532|PMID:28550247|PMID:28554858|PMID:29091718|PMID:29316780|PMID:29874583|PMID:30054184|PMID:30412504|PMID:30567237|PMID:30590039|PMID:30745123|PMID:30797548|PMID:30924900|PMID:31153663|PMID:31235249|PMID:31440394|PMID:31536626|PMID:31686034|PMID:31914229|PMID:31996268|PMID:32032730|PMID:32087291|PMID:32556937|PMID:32894632|PMID:33203472|PMID:33440141|PMID:33918046|PMID:7550356|PMID:7581374|PMID:7585193|PMID:7596406|PMID:7623584|PMID:7942850|PMID:8538334|PMID:8634711|PMID:8634712|PMID:8733303|PMID:8733749|PMID:8755489|PMID:8773614|PMID:8837617|PMID:8910898|PMID:8931704|PMID:8986743|PMID:9007097|PMID:9007311|PMID:9051814|PMID:9052708|PMID:9126060|PMID:9172170|PMID:9189043|PMID:9292884|PMID:9384602|PMID:9436726|PMID:9443865|PMID:9450754|PMID:9507958|PMID:9521423 12014571 PSEN1 presenilin 1 gene DOID:0110042 Alzheimer's disease 3 ISO RGD:731724 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Alzheimer disease 3 | ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance PMID:9536098|PMID:9540849|PMID:9544835|PMID:9546792|PMID:9712537|PMID:9728730|PMID:9804121|PMID:9811326|PMID:9831473|PMID:9851443|PMID:9851450|PMID:9915968 12014571 PSEN1 presenilin 1 gene DOID:0110042 Alzheimer's disease 3 ISO RGD:731724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3 | ClinVar Annotator: match by term: Alzheimer disease 3 | ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance PMID:10075646|PMID:10090481|PMID:10327206|PMID:10366599|PMID:10401002|PMID:10430510|PMID:10439444|PMID:10441572|PMID:10447269|PMID:10448055|PMID:10468510|PMID:10502791|PMID:10525535|PMID:10533070|PMID:10548420|PMID:10549825|PMID:10594046|PMID:10631141|PMID:10643802|PMID:10720282|PMID:10754226|PMID:10764737|PMID:10775535|PMID:10783295|PMID:10811883|PMID:10854108|PMID:11013240|PMID:11027672|PMID:11043553|PMID:11070093|PMID:11079548|PMID:11094121|PMID:11094128|PMID:11102478|PMID:11124426|PMID:11126202|PMID:11198283|PMID:11389157|PMID:11395394|PMID:11402113|PMID:11432849|PMID:11504726|PMID:11524469|PMID:11568920|PMID:11684347|PMID:11701593|PMID:11710891|PMID:11764087|PMID:11796781|PMID:11836371|PMID:11895378|PMID:11959395|PMID:11978814|PMID:11992262|PMID:12048239|PMID:12111359|PMID:12119298|PMID:12192622|PMID:12370477|PMID:12392798|PMID:12433263|PMID:12484344|PMID:12493631|PMID:12493737|PMID:12552037|PMID:12615638|PMID:12660785|PMID:12752408|PMID:12805290|PMID:12810495|PMID:12817569|PMID:12885573|PMID:12891668|PMID:14557582|PMID:14623725|PMID:14743455|PMID:14769392|PMID:14966176|PMID:15003276|PMID:15004326|PMID:15094846|PMID:15115757|PMID:15119739|PMID:15122701|PMID:15205973|PMID:15272895|PMID:15337637|PMID:15534260|PMID:15622541|PMID:15718035|PMID:15772361|PMID:15776278|PMID:16033913|PMID:16116115|PMID:16199547|PMID:16216949|PMID:16227967|PMID:16267640|PMID:16344340|PMID:16533963|PMID:16534109|PMID:16628450|PMID:16651627|PMID:16669732|PMID:16710641|PMID:16752394|PMID:16897084|PMID:16923167|PMID:16930450|PMID:16941492|PMID:16948293|PMID:16952411|PMID:16959576|PMID:17108687|PMID:17186461|PMID:17188713|PMID:17197420|PMID:17254019|PMID:17288597|PMID:17320044|PMID:17366635|PMID:17431506|PMID:17493013|PMID:17502474|PMID:17545141|PMID:17553989|PMID:17576681|PMID:17615170|PMID:17854491|PMID:17931627|PMID:17962197|PMID:17968601|PMID:18024701|PMID:18350357|PMID:18479822|PMID:18525293|PMID:18580586|PMID:18587238|PMID:18637955|PMID:18667258|PMID:18760694|PMID:18797263|PMID:19005074|PMID:19021905|PMID:19111578|PMID:19196715|PMID:19276550|PMID:19276551|PMID:19430857|PMID:19457079|PMID:19555742|PMID:19659892|PMID:19667325|PMID:19776335|PMID:19849793|PMID:1985297|PMID:19912322|PMID:19915487|PMID:20047059|PMID:20083199|PMID:20145736|PMID:20157243|PMID:20164095|PMID:20194882|PMID:20205669|PMID:2025423|PMID:20301414|PMID:20332427|PMID:20481270|PMID:20484632|PMID:20628413|PMID:20634584|PMID:20729396|PMID:20847418|PMID:21094210|PMID:21357415|PMID:21373759|PMID:21422519|PMID:21559198|PMID:21559374|PMID:21685457|PMID:21725313|PMID:21726674|PMID:21822699|PMID:21919498|PMID:21952501|PMID:21959359|PMID:22115042|PMID:22118943|PMID:22188655|PMID:22232349|PMID:22306804|PMID:22312439|PMID:22343824|PMID:22426017|PMID:22460587|PMID:22461631|PMID:22475797|PMID:22503161|PMID:22505025|PMID:22508690|PMID:22517194|PMID:22572737|PMID:22581678|PMID:22584618|PMID:22689192|PMID:22766738|PMID:22810102|PMID:22906081|PMID:23085935|PMID:23114514|PMID:23123781|PMID:23341831|PMID:23380992|PMID:23383383|PMID:23409063|PMID:23483213|PMID:23539189|PMID:23570890|PMID:23579325|PMID:23588422|PMID:23638752|PMID:23705774|PMID:23752245|PMID:23792692|PMID:23843529|PMID:23850332|PMID:23861362|PMID:23885714|PMID:23990795|PMID:24011544|PMID:24093083|PMID:24121961|PMID:24158021|PMID:24217025|PMID:24304563|PMID:24352661|PMID:24418614|PMID:24463146|PMID:24625695|PMID:24698269|PMID:24773620|PMID:24860142|PMID:24880964|PMID:24918054|PMID:24928124|PMID:25027006|PMID:25108559|PMID:25174650|PMID:25182737|PMID:25239621|PMID:25299611|PMID:25326637|PMID:25333068|PMID:25471389|PMID:25741723|PMID:25741868|PMID:25921538|PMID:25937274|PMID:25959826|PMID:26051801|PMID:26166206|PMID:26194182|PMID:26214276|PMID:26242991|PMID:26243271|PMID:26337232|PMID:26396515|PMID:26410308|PMID:26438723|PMID:26462451|PMID:26467025|PMID:26481686|PMID:26549787|PMID:26756738|PMID:26826204|PMID:26888304|PMID:26923592|PMID:26925509|PMID:27014028|PMID:27014058|PMID:27073747|PMID:27100199|PMID:27100200|PMID:27206484 12014571 PSEN1 presenilin 1 gene DOID:0110042 Alzheimer's disease 3 ISO RGD:731724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3 | ClinVar Annotator: match by term: Alzheimer disease 3 | ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance PMID:27264813|PMID:27312774|PMID:27345973|PMID:27357204|PMID:27454811|PMID:27535542|PMID:27540966|PMID:27614114|PMID:27622770|PMID:27644130|PMID:27730373|PMID:27777022|PMID:27793474|PMID:27810638|PMID:27836335|PMID:27926491|PMID:2793034|PMID:27930341|PMID:28008242|PMID:28082723|PMID:28269784|PMID:28323683|PMID:28350801|PMID:28492532|PMID:28532646|PMID:28550247|PMID:28554858|PMID:28749476|PMID:28753424|PMID:29091718|PMID:29142009|PMID:29316780|PMID:29404783|PMID:29494861|PMID:29525180|PMID:29571857|PMID:29661148|PMID:29874583|PMID:30021643|PMID:30045758|PMID:30054184|PMID:30090657|PMID:30138848|PMID:30200536|PMID:30279455|PMID:30412504|PMID:30528841|PMID:30567237|PMID:30590039|PMID:30598257|PMID:30630874|PMID:30716424|PMID:30745123|PMID:30797548|PMID:30814350|PMID:30822634|PMID:30924900|PMID:30954774|PMID:31109937|PMID:31153663|PMID:31235249|PMID:31381512|PMID:31440394|PMID:31536626|PMID:31686034|PMID:31914229|PMID:31996268|PMID:32032730|PMID:32087291|PMID:32103039|PMID:32395715|PMID:32556937|PMID:32590294|PMID:32594361|PMID:32894632|PMID:32917274|PMID:33188013|PMID:33188256|PMID:33203472|PMID:33274538|PMID:33440141|PMID:33571524|PMID:33855944|PMID:33918046|PMID:34220489|PMID:34319632|PMID:34389718|PMID:34776449|PMID:35260199|PMID:7550356|PMID:7581374|PMID:7585193|PMID:7596406|PMID:7623584|PMID:7651536|PMID:7824141|PMID:7942850|PMID:8538334|PMID:8634711|PMID:8634712|PMID:8733303|PMID:8733749|PMID:8755489|PMID:8773614|PMID:8837617|PMID:8910898|PMID:8931704|PMID:8986743|PMID:9007097|PMID:9007311|PMID:9051814|PMID:9052708|PMID:9126060|PMID:9172170|PMID:9189043|PMID:9196071|PMID:9225696|PMID:9292884|PMID:9384602|PMID:9436726|PMID:9437013|PMID:9443865|PMID:9450754|PMID:9452052|PMID:9502232|PMID:9507958|PMID:9521418|PMID:9521423|PMID:9536098|PMID:9540849|PMID:9544835|PMID:9546792|PMID:9680315|PMID:9712537|PMID:9728730|PMID:9804121|PMID:9811326|PMID:9831473|PMID:9833068|PMID:9851443|PMID:9851450|PMID:9915968 12014571 PSEN1 presenilin 1 gene DOID:0110455 dilated cardiomyopathy 1U ISO RGD:731724 D RGD:7240710 20180130 OMIM 12014571 PSEN1 presenilin 1 gene DOID:0110455 dilated cardiomyopathy 1U ISO RGD:731724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1U PMID:10643802|PMID:11524469|PMID:12192622|PMID:15003276|PMID:16033913|PMID:16216949|PMID:16669732|PMID:16923167|PMID:16952411|PMID:17186461|PMID:17854491|PMID:18350357|PMID:18525293|PMID:18667258|PMID:19111578|PMID:19659892|PMID:20194882|PMID:21959359|PMID:22503161|PMID:22810102|PMID:22906081|PMID:23861362|PMID:23990795|PMID:25333068|PMID:25741868|PMID:25937274|PMID:26166206|PMID:26242991|PMID:26467025|PMID:27312774|PMID:27357204|PMID:27535542|PMID:27644130|PMID:27930341|PMID:28350801|PMID:28492532|PMID:28554858|PMID:8773614|PMID:9384602|PMID:9851443|PMID:9851450|PMID:9915968 12014571 PSEN1 presenilin 1 gene DOID:1059 intellectual disability ISO RGD:731724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12014571 PSEN1 presenilin 1 gene DOID:10652 Alzheimer's disease ISO RGD:731724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease | ClinVar Annotator: match by term: Familial Alzheimer disease PMID:10075646|PMID:10208579|PMID:10643802|PMID:11198283|PMID:11389157|PMID:11524469|PMID:12192622|PMID:12615638|PMID:15003276|PMID:16033913|PMID:16216949|PMID:16267640|PMID:16669732|PMID:16923167|PMID:16952411|PMID:17854491|PMID:18350357|PMID:18525293|PMID:18667258|PMID:19111578|PMID:19659892|PMID:20008660|PMID:20194882|PMID:20802216|PMID:21959359|PMID:22810102|PMID:22906081|PMID:23638752|PMID:23861362|PMID:23990795|PMID:25333068|PMID:25741868|PMID:25937274|PMID:26166206|PMID:26194182|PMID:26242991|PMID:26467025|PMID:27312774|PMID:27357204|PMID:27535542|PMID:27644130|PMID:27777022|PMID:27930341|PMID:28082723|PMID:28350801|PMID:28492532|PMID:28554858|PMID:28749476|PMID:29142009|PMID:30090657|PMID:30279455|PMID:32588886|PMID:33769986|PMID:34603009|PMID:8773614|PMID:9384602|PMID:9452052|PMID:9851443|PMID:9851450|PMID:9915968 12014571 PSEN1 presenilin 1 gene DOID:11088 asphyxia neonatorum ISO RGD:731724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963755 12014571 PSEN1 presenilin 1 gene DOID:11870 Pick's disease ISO RGD:731724 D RGD:7240710 20180130 OMIM 12014571 PSEN1 presenilin 1 gene DOID:11870 Pick's disease ISO RGD:731724 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pick Disease of the Brain | ClinVar Annotator: match by term: Pick disease PMID:11389157|PMID:15122701|PMID:20301414|PMID:25741868|PMID:28492532|PMID:9450754 12014571 PSEN1 presenilin 1 gene DOID:1289 neurodegenerative disease ISO RGD:731724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23541064 12014571 PSEN1 presenilin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:731724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11389157|PMID:17186461|PMID:25741868|PMID:28492532 12014571 PSEN1 presenilin 1 gene DOID:1561 cognitive disorder ISO RGD:731724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26945731 12014571 PSEN1 presenilin 1 gene DOID:630 genetic disease ISO RGD:731724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12014571 PSEN1 presenilin 1 gene DOID:8927 learning disability ISO RGD:731724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25213453 12014571 PSEN1 presenilin 1 gene DOID:9002350 Hereditary Hemorrhagic Telangiectasia, Type 1 ISO RGD:731724 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 PMID:25741868|PMID:29142009|PMID:30822634|PMID:32235595 12014571 PSEN1 presenilin 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:735973 D RGD:9068941 20200609 RGD PMID:16079160|REF_RGD_ID:1580694 12014571 PSEN1 presenilin 1 gene DOID:9002720 Splenomegaly ISO RGD:731724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27117003 12014571 PSEN1 presenilin 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:731724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mental deterioration PMID:10327206|PMID:10441572|PMID:11102478|PMID:11836371|PMID:11959395|PMID:11978814|PMID:16033913|PMID:16651627|PMID:16941492|PMID:19021905|PMID:19849793|PMID:20083199|PMID:20634584|PMID:21685457|PMID:21726674|PMID:22188655|PMID:22475797|PMID:22503161|PMID:22572737|PMID:23539189|PMID:23579325|PMID:23705774|PMID:24158021|PMID:25741868|PMID:26438723|PMID:26467025|PMID:26481686|PMID:26756738|PMID:27777022|PMID:27930341|PMID:28350801|PMID:28492532|PMID:7585193|PMID:8634712|PMID:9172170|PMID:9521423 12014571 PSEN1 presenilin 1 gene DOID:9002955 Nerve Degeneration ISO RGD:731724 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:19522546|PMID:33971107 12014571 PSEN1 presenilin 1 gene DOID:9003065 Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia ISO RGD:731724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with spastic paraparesis and apraxia PMID:11920851|PMID:15534188|PMID:25741868 12014571 PSEN1 presenilin 1 gene DOID:9003104 Intracranial Hemorrhages ISO RGD:735973 D RGD:9068941 20200609 RGD PMID:9160754|REF_RGD_ID:1302520 12014571 PSEN1 presenilin 1 gene DOID:9003126 Hallucinations ISO RGD:731724 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Visual hallucinations PMID:25741868 12014571 PSEN1 presenilin 1 gene DOID:9003829 Familial Acne Inversa 3 ISO RGD:731724 D RGD:7240710 20210721 OMIM 12014571 PSEN1 presenilin 1 gene DOID:9003829 Familial Acne Inversa 3 ISO RGD:731724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acne inversa, familial, 3 PMID:11389157|PMID:20929727|PMID:25741868|PMID:28492532 12014571 PSEN1 presenilin 1 gene DOID:9005832 Amyloid Plaques ISO RGD:731724 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33096116 12014571 PSEN1 presenilin 1 gene DOID:9006051 Alzheimer's Disease, Familial, 3, with Spastic Paraparesis ISO RGD:731724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease familial 3, with spastic paraparesis PMID:24121961|PMID:25741868 12014571 PSEN1 presenilin 1 gene DOID:9006129 Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques ISO RGD:731724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques | ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with unusual plaques | ClinVar Annotator: match by term: Alzheimer disease, familial, with spastic paraparesis and unusual plaques PMID:10720282|PMID:11198283|PMID:11524469|PMID:12111359|PMID:12370477|PMID:12493737|PMID:14557582|PMID:15159497|PMID:15732120|PMID:16033913|PMID:19667325|PMID:20634584|PMID:22461631|PMID:22766738|PMID:24217025|PMID:25471389|PMID:25741868|PMID:27777022|PMID:27930341|PMID:28350801|PMID:28492532|PMID:33440141|PMID:7550356|PMID:8733749|PMID:8755489|PMID:9172170|PMID:9546792 12014571 PSEN1 presenilin 1 gene DOID:9006205 Animal Disease Models ISO RGD:731724 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:16651627|PMID:27567873 12014571 PSEN1 presenilin 1 gene DOID:9006478 Amyloid Neuropathies ISO RGD:731724 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:27567873 12014571 PSEN1 presenilin 1 gene DOID:9006534 Nervous System Malformations ISO RGD:731724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:9172170 12014571 PSEN1 presenilin 1 gene DOID:9007402 Gliosis ISO RGD:731724 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:27567873 12014571 PSEN1 presenilin 1 gene DOID:9008023 Memory Disorders ISO RGD:731724 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:25213453|PMID:27567873|PMID:28448946 12014571 PSEN1 presenilin 1 gene DOID:9008895 Familial Hidradenitis Suppurativa ISO RGD:731724 D RGD:9068941 20210723 CTD CTD Direct Evidence: marker/mechanism PMID:20929727 12014571 PSEN1 presenilin 1 gene DOID:9120 amyloidosis ISO RGD:731724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23541064 12014571 PSEN1 presenilin 1 gene DOID:9255 frontotemporal dementia ISO RGD:731724 D RGD:7240710 20180130 OMIM 12014571 PSEN1 presenilin 1 gene DOID:9255 frontotemporal dementia ISO RGD:731724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FTLD WITH TAU INCLUSIONS | ClinVar Annotator: match by term: Frontotemporal dementia PMID:11094121|PMID:11389157|PMID:11895378|PMID:12399144|PMID:15776278|PMID:17431506|PMID:20301414|PMID:20332427|PMID:20634584|PMID:22475797|PMID:25741868|PMID:26467025|PMID:26756738|PMID:28492532|PMID:30279455|PMID:31153663 12014601 HDGFL1 HDGF like 1 gene DOID:630 genetic disease ISO RGD:1344578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014611 ARID1B AT-rich interaction domain 1B gene DOID:0050840 cervical dystonia ISO RGD:1316702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Torticollis PMID:25741868 12014611 ARID1B AT-rich interaction domain 1B gene DOID:0050902 medulloblastoma ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:25741868|PMID:26822237 12014611 ARID1B AT-rich interaction domain 1B gene DOID:0060041 autism spectrum disorder ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30504930 12014611 ARID1B AT-rich interaction domain 1B gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1316702 D RGD:7240710 20180725 OMIM 12014611 ARID1B AT-rich interaction domain 1B gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1316702 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 PMID:10361086|PMID:15057123|PMID:18414213|PMID:22405089|PMID:22426308|PMID:22426309|PMID:23815551|PMID:23906836|PMID:23929686|PMID:24674232|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25674384|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26822237|PMID:27474218|PMID:27570168|PMID:27824329|PMID:28323383|PMID:28492532|PMID:28708303|PMID:29286531|PMID:30504930|PMID:31132234|PMID:32860008|PMID:33098347 12014611 ARID1B AT-rich interaction domain 1B gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1316702 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES PMID:10361086|PMID:15057123|PMID:18414213|PMID:22405089|PMID:22426308|PMID:22426309|PMID:23160955|PMID:23815551|PMID:23906836|PMID:23929686|PMID:24674232|PMID:25249037|PMID:25326635|PMID:25326637|PMID:25363768|PMID:25473036|PMID:25533962|PMID:25674384|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26506440|PMID:26822237|PMID:27474218|PMID:27570168|PMID:27824329|PMID:28323383|PMID:28492532|PMID:28708303|PMID:29286531|PMID:30504930|PMID:31132234|PMID:32860008|PMID:33098347|PMID:33768696 12014611 ARID1B AT-rich interaction domain 1B gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1316702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES PMID:10361086|PMID:15057123|PMID:17576681|PMID:18414213|PMID:22405089|PMID:22426308|PMID:22426309|PMID:23160955|PMID:23815551|PMID:23906836|PMID:23929686|PMID:24674232|PMID:25217958|PMID:25249037|PMID:25326635|PMID:25363768|PMID:25473036|PMID:25533962|PMID:25674384|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26506440|PMID:26822237|PMID:27474218|PMID:27570168|PMID:27824329|PMID:28323383|PMID:28492532|PMID:28708303|PMID:29286531|PMID:30349098|PMID:30504930|PMID:31132234|PMID:31164752|PMID:32860008|PMID:33098347|PMID:33619735|PMID:33768696|PMID:34706719|PMID:9536098 12014611 ARID1B AT-rich interaction domain 1B gene DOID:0070338 cerebellar hypoplasia ISO RGD:1316702 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868 12014611 ARID1B AT-rich interaction domain 1B gene DOID:10348 blepharophimosis ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis PMID:23806086|PMID:24088041|PMID:24674232|PMID:25741868 12014611 ARID1B AT-rich interaction domain 1B gene DOID:10534 stomach cancer disease_progression ISO RGD:1316702 D RGD:9068941 20210430 RGD protein:decreased expression:stomach (human) PMID:26637902|REF_RGD_ID:126848744 12014611 ARID1B AT-rich interaction domain 1B gene DOID:1059 intellectual disability ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency PMID:25741868|PMID:28492532 12014611 ARID1B AT-rich interaction domain 1B gene DOID:10763 hypertension treatment ISO RGD:708504 D RGD:9068941 20200609 RGD PMID:17489020|REF_RGD_ID:9587762 12014611 ARID1B AT-rich interaction domain 1B gene DOID:10907 microcephaly ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12014611 ARID1B AT-rich interaction domain 1B gene DOID:10908 hydrocephalus ISO RGD:1316703 D RGD:9068941 20200609 RGD PMID:28867767|REF_RGD_ID:13439722 12014611 ARID1B AT-rich interaction domain 1B gene DOID:1826 epilepsy ISO RGD:1316702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:15057123|PMID:17576681|PMID:22405089|PMID:25741868|PMID:27474218|PMID:28323383|PMID:28492532|PMID:29286531|PMID:9536098 12014611 ARID1B AT-rich interaction domain 1B gene DOID:1925 Coffin-Siris syndrome ISO RGD:1316702 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability | ClinVar Annotator: match by term: Coffin-Siris syndrome | ClinVar Annotator: match by term: Fifth digit syndrome PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532 12014611 ARID1B AT-rich interaction domain 1B gene DOID:3070 high grade glioma ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:25741868 12014611 ARID1B AT-rich interaction domain 1B gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1316702 D RGD:9068941 20210507 RGD DNA:mutations PMID:32791957|REF_RGD_ID:126848874 12014611 ARID1B AT-rich interaction domain 1B gene DOID:3948 adrenocortical carcinoma ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma PMID:25674384|PMID:28492532|PMID:30349098 12014611 ARID1B AT-rich interaction domain 1B gene DOID:420 hypertrichosis ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrichosis PMID:25741868 12014611 ARID1B AT-rich interaction domain 1B gene DOID:557 kidney disease ISO RGD:1316702 D RGD:9068941 20200609 RGD PMID:14633620|REF_RGD_ID:1302474 12014611 ARID1B AT-rich interaction domain 1B gene DOID:630 genetic disease ISO RGD:1316702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10361086|PMID:15057123|PMID:17576681|PMID:18414213|PMID:22405089|PMID:22426308|PMID:22426309|PMID:23160955|PMID:23815551|PMID:23906836|PMID:23929686|PMID:25249037|PMID:25326635|PMID:25356970|PMID:25363768|PMID:25473036|PMID:25533962|PMID:25674384|PMID:25741868|PMID:26350204|PMID:26376624|PMID:27391121|PMID:27474218|PMID:27824329|PMID:28323383|PMID:28492532|PMID:29286531|PMID:29504208|PMID:30349098|PMID:31164752|PMID:34706719|PMID:9536098 12014611 ARID1B AT-rich interaction domain 1B gene DOID:684 hepatocellular carcinoma ISO RGD:1316702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22634756 12014611 ARID1B AT-rich interaction domain 1B gene DOID:769 neuroblastoma ISO RGD:1316702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23202128 12014611 ARID1B AT-rich interaction domain 1B gene DOID:769 neuroblastoma ISO RGD:1316702 D RGD:9068941 20200609 RGD DNA:deletion,haploinsufficiency: : PMID:23202128|REF_RGD_ID:13439724 12014611 ARID1B AT-rich interaction domain 1B gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1316702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:25741868|PMID:30349098|PMID:34706719 12014611 ARID1B AT-rich interaction domain 1B gene DOID:9002112 Growth Deficiency and Mental Retardation with Facial Dysmorphism ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wiedemann-Steiner syndrome 12014611 ARID1B AT-rich interaction domain 1B gene DOID:9003531 Nicolaides Baraitser Syndrome ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome PMID:25741868 12014611 ARID1B AT-rich interaction domain 1B gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 12014611 ARID1B AT-rich interaction domain 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12014611 ARID1B AT-rich interaction domain 1B gene DOID:9004507 Hirsutism ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirsutism 12014611 ARID1B AT-rich interaction domain 1B gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12014611 ARID1B AT-rich interaction domain 1B gene DOID:9008086 Developmental Disabilities ISO RGD:1316702 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741885 12014611 ARID1B AT-rich interaction domain 1B gene DOID:9008582 Developmental Disease ISO RGD:1316702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12014611 Arid1b AT-rich interaction domain 1B gene DOID:326 ischemia ISO RGD:708504 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:renal medulla, cortex of kidney PMID:14633620|REF_RGD_ID:1302474 12014643 PLN phospholamban gene DOID:0050700 cardiomyopathy ISO RGD:1349244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12610310|PMID:12639993|PMID:16235537|PMID:17655857|PMID:18056057|PMID:19139388|PMID:21167350|PMID:21282613|PMID:21332051|PMID:22137083|PMID:22427649|PMID:22707725|PMID:23308118|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25593317|PMID:25611685|PMID:25741868|PMID:25928149|PMID:26535225|PMID:26573135|PMID:26688388|PMID:26917049|PMID:27532257|PMID:28492532|PMID:28600387|PMID:28790153|PMID:30242101|PMID:31705731|PMID:31737537 12014643 PLN phospholamban gene DOID:0060224 atrial fibrillation ISO RGD:1349244 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 12014643 PLN phospholamban gene DOID:0060319 cardiac arrest ISO RGD:1349244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:12639993|PMID:16235537|PMID:17655857|PMID:21167350|PMID:21332051|PMID:22137083|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:27532257|PMID:28492532|PMID:28600387 12014643 PLN phospholamban gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1349244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 12014643 PLN phospholamban gene DOID:0110324 hypertrophic cardiomyopathy 18 ISO RGD:1349244 D RGD:7240710 20180130 OMIM 12014643 PLN phospholamban gene DOID:0110324 hypertrophic cardiomyopathy 18 ISO RGD:1349244 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 18 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 18 PMID:12610310|PMID:12639993|PMID:12705874|PMID:16235537|PMID:16829191|PMID:17655857|PMID:21167350|PMID:21332051|PMID:21735565|PMID:22137083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:26573135|PMID:26688388|PMID:27532257|PMID:28492532|PMID:28600387|PMID:28790153|PMID:31705731|PMID:31737537 12014643 PLN phospholamban gene DOID:0110439 dilated cardiomyopathy 1P ISO RGD:1349244 D RGD:7240710 20180130 OMIM 12014643 PLN phospholamban gene DOID:0110439 dilated cardiomyopathy 1P ISO RGD:1349244 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1P PMID:12610310|PMID:12639993|PMID:12705874|PMID:16235537|PMID:16829191|PMID:16897780|PMID:17655857|PMID:18056057|PMID:18241046|PMID:19139388|PMID:21167350|PMID:21282613|PMID:21332051|PMID:21735565|PMID:22137083|PMID:22427649|PMID:22707725|PMID:23308118|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24451198|PMID:24503780|PMID:24909667|PMID:25351510|PMID:25563649|PMID:25593317|PMID:25611685|PMID:25691538|PMID:25741868|PMID:25852082|PMID:25928149|PMID:26535225|PMID:26573135|PMID:26688388|PMID:26917049|PMID:27532257|PMID:28492532|PMID:28600387|PMID:28771489|PMID:28790153|PMID:29501609|PMID:30012515|PMID:30012837|PMID:30242101|PMID:30794913|PMID:30847666|PMID:30871747|PMID:31705731|PMID:31737537|PMID:33495597|PMID:35297759 12014643 PLN phospholamban gene DOID:0110786 hereditary spastic paraplegia 35 ISO RGD:1349244 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, WITH OR WITHOUT NEURODEGENERATION PMID:12610310|PMID:16829191|PMID:21735565|PMID:28492532 12014643 PLN phospholamban gene DOID:0112229 lissencephaly 10 ISO RGD:1349244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly 10 PMID:18241046|PMID:24033266|PMID:28492532 12014643 PLN phospholamban gene DOID:1059 intellectual disability ISO RGD:1349244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 12014643 PLN phospholamban gene DOID:10907 microcephaly ISO RGD:1349244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 12014643 PLN phospholamban gene DOID:114 heart disease treatment ISO RGD:619894 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X PMID:23458196|REF_RGD_ID:7327178 12014643 PLN phospholamban gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1349244 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:12639993|PMID:16235537|PMID:17655857|PMID:21167350|PMID:21332051|PMID:22137083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:26688388|PMID:27532257|PMID:28492532|PMID:28600387|PMID:28790153|PMID:31705731|PMID:31737537 12014643 PLN phospholamban gene DOID:12849 autistic disorder ISO RGD:1349244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:24824130 12014643 PLN phospholamban gene DOID:12930 dilated cardiomyopathy ISO RGD:1349244 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12610310|PMID:12639993|PMID:16235537|PMID:16897780|PMID:17655857|PMID:18056057|PMID:19139388|PMID:21167350|PMID:21282613|PMID:21332051|PMID:22137083|PMID:22427649|PMID:22707725|PMID:23308118|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25593317|PMID:25611685|PMID:25691538|PMID:25741868|PMID:25852082|PMID:25928149|PMID:26535225|PMID:26917049|PMID:27532257|PMID:28492532|PMID:28600387|PMID:30012515|PMID:30012837|PMID:30847666 12014643 PLN phospholamban gene DOID:14289 Ebstein anomaly ISO RGD:1349244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ebstein anomaly 12014643 PLN phospholamban gene DOID:14717 centronuclear myopathy ISO RGD:732405 D RGD:9068941 20220825 MouseDO OMIM:160150 | OMIM:255200 | OMIM:310400 | OMIM:614408 | OMIM:614807 | OMIM:615959 12014643 PLN phospholamban gene DOID:1826 epilepsy ISO RGD:1349244 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12014643 PLN phospholamban gene DOID:5844 myocardial infarction ISO RGD:1349244 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16026515|PMID:16162791 12014643 PLN phospholamban gene DOID:5844 myocardial infarction treatment ISO RGD:619894 D RGD:9068941 20200609 RGD PMID:23781262|REF_RGD_ID:7327176 12014643 PLN phospholamban gene DOID:6000 congestive heart failure treatment ISO RGD:619894 D RGD:9068941 20200609 RGD associated with Hypertension PMID:22970977|REF_RGD_ID:7327181 12014643 PLN phospholamban gene DOID:6000 congestive heart failure treatment ISO RGD:619894 D RGD:9068941 20200609 RGD associated with Myocardial Infarction PMID:22947202|REF_RGD_ID:7327182 12014643 PLN phospholamban gene DOID:9000495 Tremor ISO RGD:1349244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 12014643 PLN phospholamban gene DOID:9000564 Prehypertension ISO RGD:619894 D RGD:9068941 20200609 RGD protein:decreased expression, decreased serine phosphorylation:superior cervical ganglion PMID:22252398|REF_RGD_ID:7327185 12014643 PLN phospholamban gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1349244 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14991071 12014643 PLN phospholamban gene DOID:9002661 Diabetes Complications ISO RGD:619894 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:diaphragm PMID:23443767|REF_RGD_ID:7327179 12014643 PLN phospholamban gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:619894 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:heart left ventricle PMID:22185592|REF_RGD_ID:7327207 12014643 PLN phospholamban gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1349244 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10734148 12014643 PLN phospholamban gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:619894 D RGD:9068941 20200609 RGD PMID:21934351|REF_RGD_ID:7327186 12014643 PLN phospholamban gene DOID:9007925 Sudden Cardiac Death ISO RGD:1349244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:12639993|PMID:16235537|PMID:17655857|PMID:21167350|PMID:21332051|PMID:22137083|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:27532257|PMID:28492532|PMID:28600387 12014643 PLN phospholamban gene DOID:9352 type 2 diabetes mellitus ISO RGD:619894 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle PMID:22621761|REF_RGD_ID:7327183 12014643 PLN phospholamban gene DOID:9767 myocardial stunning ISO RGD:1349244 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16317512 12014649 RIPOR3 RIPOR family member 3 gene DOID:10283 prostate cancer ISO RGD:1313101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12014649 RIPOR3 RIPOR family member 3 gene DOID:630 genetic disease ISO RGD:1313101 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014675 CD38 CD38 molecule gene DOID:0050777 Joubert syndrome ISO RGD:735841 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12014675 CD38 CD38 molecule gene DOID:630 genetic disease ISO RGD:735841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014675 CD38 CD38 molecule gene DOID:9001542 Albuminuria ISO RGD:735841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21992601 12014675 CD38 CD38 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2303 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:16343077|REF_RGD_ID:2307239 12014675 CD38 CD38 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12014675 CD38 CD38 molecule gene DOID:9002165 Diabetic Nephropathies ISO RGD:2303 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19073639|REF_RGD_ID:2307227 12014675 CD38 CD38 molecule gene DOID:9002165 Diabetic Nephropathies ISO RGD:735841 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:19300526|REF_RGD_ID:2307228 12014675 CD38 CD38 molecule gene DOID:9003936 Cardiomegaly ISO RGD:2303 D RGD:9068941 20200609 RGD PMID:18719074|REF_RGD_ID:2307236 12014675 CD38 CD38 molecule gene DOID:9007102 Myocardial Ischemia ISO RGD:2303 D RGD:9068941 20200609 RGD protein:increased activity:ventricle myocardium PMID:12111041|REF_RGD_ID:2307243 12014675 CD38 CD38 molecule gene DOID:9007102 Myocardial Ischemia ISO RGD:735841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12014675 CD38 CD38 molecule gene DOID:9352 type 2 diabetes mellitus ISO RGD:2303 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet PMID:7669044|REF_RGD_ID:2307234 12014675 CD38 CD38 molecule gene DOID:9352 type 2 diabetes mellitus ISO RGD:735841 D RGD:9068941 20200609 RGD PMID:12242463|REF_RGD_ID:2307232 12014675 CD38 CD38 molecule gene DOID:9352 type 2 diabetes mellitus ISO RGD:735841 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.R140W (human) PMID:9754820|REF_RGD_ID:2307233 12014675 CD38 CD38 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:731646 D RGD:9068941 20200609 RGD PMID:16920929|REF_RGD_ID:2307229 12014675 CD38 CD38 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:731646 D RGD:9068941 20220825 MouseDO OMIM:222100 12014675 CD38 CD38 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:735841 D RGD:9068941 20200609 RGD PMID:16459468|REF_RGD_ID:2307230 12014675 CD38 CD38 molecule gene DOID:9744 type 1 diabetes mellitus disease_progression ISO RGD:735841 D RGD:9068941 20200609 RGD PMID:12488956|REF_RGD_ID:2307231 12014687 CTTN cortactin gene DOID:1059 intellectual disability ISO RGD:1352162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12014687 CTTN cortactin gene DOID:1749 squamous cell carcinoma ISO RGD:1352162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27148699 12014687 CTTN cortactin gene DOID:630 genetic disease ISO RGD:1352162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014687 CTTN cortactin gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1352162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12014687 CTTN cortactin gene DOID:9005065 Leukoplakia ISO RGD:1352162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27148699 12014710 RAD51 RAD51 recombinase gene DOID:0050700 cardiomyopathy treatment ISO RGD:1563603 D RGD:9068941 20200609 RGD PMID:22384017|REF_RGD_ID:7240549 12014710 RAD51 RAD51 recombinase gene DOID:0111090 Fanconi anemia complementation group R ISO RGD:1316727 D RGD:7240710 20230510 OMIM 12014710 RAD51 RAD51 recombinase gene DOID:0111090 Fanconi anemia complementation group R ISO RGD:1316727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group R PMID:15908697|PMID:25741868|PMID:26253028|PMID:26681308 12014710 RAD51 RAD51 recombinase gene DOID:10763 hypertension treatment ISO RGD:1563603 D RGD:9068941 20210611 RGD PMID:24239235|REF_RGD_ID:8693672 12014710 RAD51 RAD51 recombinase gene DOID:1612 breast cancer ISO RGD:1316727 D RGD:7240710 20230510 OMIM 12014710 RAD51 RAD51 recombinase gene DOID:1612 breast cancer resistance ISO RGD:1316727 D RGD:9068941 20200609 RGD DNA:polymorphism: :135G>C PMID:17301259|REF_RGD_ID:2298722 12014710 RAD51 RAD51 recombinase gene DOID:1612 breast cancer susceptibility ISO RGD:1316727 D RGD:9068941 20230511 RGD DNA:SNPs PMID:16624550|REF_RGD_ID:2292637 12014710 RAD51 RAD51 recombinase gene DOID:1612 breast cancer susceptibility ISO RGD:1316727 D RGD:9068941 20230511 RGD DNA:deletion, loss of heterozygosity PMID:17180310|REF_RGD_ID:2292636 12014710 RAD51 RAD51 recombinase gene DOID:1612 breast cancer susceptibility ISO RGD:1316727 D RGD:9068941 20230511 RGD DNA:polymorphism: :135G>C PMID:17999359|REF_RGD_ID:2292634 12014710 RAD51 RAD51 recombinase gene DOID:1612 breast cancer susceptibility ISO RGD:1316727 D RGD:9068941 20230511 RGD DNA:repeat PMID:18429825|REF_RGD_ID:2292632 12014710 RAD51 RAD51 recombinase gene DOID:1793 pancreatic cancer ISO RGD:1563603 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (rat) PMID:20197614|REF_RGD_ID:9831172 12014710 RAD51 RAD51 recombinase gene DOID:2152 ovary epithelial cancer no_association ISO RGD:1316727 D RGD:9068941 20200609 RGD DNA:polymorphisms: :135G>C, 172G>T PMID:15924337|REF_RGD_ID:2298723 12014710 RAD51 RAD51 recombinase gene DOID:2394 ovarian cancer ISO RGD:1316727 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 12014710 RAD51 RAD51 recombinase gene DOID:2394 ovarian cancer resistance ISO RGD:1316727 D RGD:9068941 20200609 RGD DNA:polymorphism: :135G>C PMID:17301259|REF_RGD_ID:2298722 12014710 RAD51 RAD51 recombinase gene DOID:2717 Bloom syndrome ISO RGD:1316727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12014710 RAD51 RAD51 recombinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11248061|PMID:17999359 12014710 RAD51 RAD51 recombinase gene DOID:630 genetic disease ISO RGD:1316727 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15908697|PMID:25741868|PMID:26681308|PMID:28492532 12014710 RAD51 RAD51 recombinase gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1316727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22613844 12014710 RAD51 RAD51 recombinase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1563603 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:17219426|REF_RGD_ID:2292638 12014710 RAD51 RAD51 recombinase gene DOID:9002669 Hypoxia ISO RGD:1563603 D RGD:9068941 20200609 RGD associated with Gliosarcoma;mRNA:decreased expression:tumor (rat) PMID:21266355|REF_RGD_ID:9831171 12014710 RAD51 RAD51 recombinase gene DOID:9003461 Mirror Movements 2 ISO RGD:1316727 D RGD:7240710 20230510 OMIM 12014710 RAD51 RAD51 recombinase gene DOID:9003461 Mirror Movements 2 ISO RGD:1316727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mirror movements 2 PMID:10807537|PMID:21242494|PMID:22305526|PMID:24808016|PMID:25741868|PMID:25813273|PMID:27830107|PMID:28492532|PMID:33116287 12014710 RAD51 RAD51 recombinase gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1316727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22613844 12014710 RAD51 RAD51 recombinase gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1316727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9885240 12014710 RAD51 RAD51 recombinase gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1316727 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34998818 12014710 RAD51 RAD51 recombinase gene DOID:9008939 Breast Neoplasms ISO RGD:1316727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12014710 RAD51 RAD51 recombinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1316727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:10807537|PMID:25741868|PMID:28492532|PMID:33116287 12014710 RAD51 RAD51 recombinase gene DOID:9256 colorectal cancer ISO RGD:1316727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12014731 FKBP6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:0060041 autism spectrum disorder ISO RGD:1318976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 12014731 FKBP6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:10923 sickle cell anemia ISO RGD:1318976 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 12014731 FKBP6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:12336 male infertility ISO RGD:1318976 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Male infertility PMID:25741868|PMID:36150389 12014731 FKBP6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:12849 autistic disorder ISO RGD:1318976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12014731 FKBP6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:1928 Williams-Beuren syndrome ISO RGD:1318976 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 12014731 FKBP6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12014731 FKBP6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:5419 schizophrenia ISO RGD:1318976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12014731 FKBP6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:630 genetic disease ISO RGD:1318976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014731 FKBP6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:8445 intestinal volvulus ISO RGD:1318976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12014731 FKBP6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12014731 FKBP6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:9005311 Spermatogenic Failure 77 ISO RGD:1318976 D RGD:7240710 20221102 OMIM 12014731 FKBP6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:9005311 Spermatogenic Failure 77 ISO RGD:1318976 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 77 PMID:25741868|PMID:36150389 12014731 FKBP6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:9008419 Volvulus Of Midgut ISO RGD:1318976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12014753 RNF222 ring finger protein 222 gene DOID:630 genetic disease ISO RGD:2299989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014770 ADAMTSL2 ADAMTS like 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1343515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 12014770 ADAMTSL2 ADAMTS like 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1343515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12014770 ADAMTSL2 ADAMTS like 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1343515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12014770 ADAMTSL2 ADAMTS like 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1343515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12014770 ADAMTSL2 ADAMTS like 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1343515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12014770 ADAMTSL2 ADAMTS like 2 gene DOID:0111243 acromicric dysplasia ISO RGD:1343515 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Geleophysic dwarfism PMID:24014090 12014770 ADAMTSL2 ADAMTS like 2 gene DOID:0111724 geleophysic dysplasia ISO RGD:1343515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 12014770 ADAMTSL2 ADAMTS like 2 gene DOID:0111725 geleophysic dysplasia 1 ISO RGD:1343515 D RGD:7240710 20180130 OMIM 12014770 ADAMTSL2 ADAMTS like 2 gene DOID:0111725 geleophysic dysplasia 1 ISO RGD:1343515 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 1 PMID:18677313|PMID:20301776|PMID:21415077|PMID:24014090|PMID:25741868|PMID:28492532|PMID:30174453|PMID:30195254 12014770 ADAMTSL2 ADAMTS like 2 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1343515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12014770 ADAMTSL2 ADAMTS like 2 gene DOID:2256 osteochondrodysplasia ISO RGD:1343515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 12014770 ADAMTSL2 ADAMTS like 2 gene DOID:3652 Leigh disease ISO RGD:1343515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12014770 ADAMTSL2 ADAMTS like 2 gene DOID:4079 heart valve disease ISO RGD:1343515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 12014770 ADAMTSL2 ADAMTS like 2 gene DOID:630 genetic disease ISO RGD:1343515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12014770 ADAMTSL2 ADAMTS like 2 gene DOID:655 inherited metabolic disorder ISO RGD:1343515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 12014770 ADAMTSL2 ADAMTS like 2 gene DOID:9001487 Facies ISO RGD:1343515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 12014770 ADAMTSL2 ADAMTS like 2 gene DOID:9003299 Short Limb Dwarfism Al Gazali Type ISO RGD:1343515 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Lethal short-limb skeletal dysplasia, Al Gazali type PMID:18677313|PMID:20301776|PMID:24251637|PMID:25741868|PMID:30195254 12014770 ADAMTSL2 ADAMTS like 2 gene DOID:9004585 GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES ISO RGD:12117271 D RGD:9068941 20220630 OMIA Geleophysic dysplasia, ADMATSL2-related PMID:20862248|PMID:28158899 12014770 ADAMTSL2 ADAMTS like 2 gene DOID:9004795 Congenital Hand Deformities ISO RGD:1343515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 12014770 ADAMTSL2 ADAMTS like 2 gene DOID:9005369 Hepatomegaly ISO RGD:1343515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 12014770 ADAMTSL2 ADAMTS like 2 gene DOID:9006257 Growth Disorders ISO RGD:1343515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 12014770 ADAMTSL2 ADAMTS like 2 gene DOID:9006836 Contracture ISO RGD:1343515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 12014804 GPC2 glypican 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12014804 GPC2 glypican 2 gene DOID:630 genetic disease ISO RGD:731703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014817 DUSP13B dual specificity phosphatase 13B gene DOID:630 genetic disease ISO RGD:1344710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014817 DUSP13B dual specificity phosphatase 13B gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1344710 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:22077973|PMID:23436491|PMID:25424711|PMID:27880066|PMID:28492532 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:0001816 angiosarcoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angiosarcoma PMID:24740626|PMID:25157968|PMID:25808193|PMID:8456858 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1350859 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18594010|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19881948|PMID:20609353|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22722830|PMID:22734028|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23325582|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24720724|PMID:25044103|PMID:25157968|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26242988|PMID:26372703|PMID:26521233|PMID:26623049|PMID:28492532|PMID:29298116|PMID:30443000|PMID:3122217|PMID:31891627|PMID:32581362|PMID:3627975|PMID:7773929|PMID:8439212 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:0050469 Costello syndrome ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17468812|PMID:17703371 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:0050700 cardiomyopathy no_association ISO RGD:1550157 D RGD:9068941 20200609 RGD PMID:24259500|REF_RGD_ID:11568677 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:0050855 renal fibrosis treatment ISO RGD:2981 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:22074740|REF_RGD_ID:11060152 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:0050868 hepatocellular adenoma induced ISO RGD:2981 D RGD:9068941 20200609 RGD aflatoxin B1 induced:DNA:transversion,transition mutations:cds: PMID:8446626|REF_RGD_ID:11568697 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:0050908 myelodysplastic syndrome ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27992414 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:0060058 lymphoma ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9205081 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:1350859 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome PMID:16474404|PMID:16474405|PMID:16987887|PMID:17056636|PMID:17704260|PMID:17875937|PMID:18958496|PMID:19020799|PMID:19396835|PMID:20186801|PMID:20949621|PMID:21686179|PMID:21784453|PMID:21797849|PMID:23059812|PMID:23885229|PMID:24033266|PMID:24803665|PMID:25359213|PMID:25741868|PMID:26242988|PMID:27763634|PMID:28492532|PMID:28650561|PMID:29493581|PMID:29517769|PMID:8234268 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:0060581 Noonan syndrome 3 ISO RGD:1350859 D RGD:7240710 20180130 OMIM 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:0060581 Noonan syndrome 3 ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome 3 PMID:10590419|PMID:10681080|PMID:12110640|PMID:14982869|PMID:16474404|PMID:16474405|PMID:16773572|PMID:16921267|PMID:16987887|PMID:17056636|PMID:17211612|PMID:17324647|PMID:17409930|PMID:17468812|PMID:17551339|PMID:17704260|PMID:17875937|PMID:17875939|PMID:17994553|PMID:18386799|PMID:18456719|PMID:18509354|PMID:18628094|PMID:18958496|PMID:19020799|PMID:19396835|PMID:20112233|PMID:20186801|PMID:20652921|PMID:20949621|PMID:21062266|PMID:21686179|PMID:21779504|PMID:21784453|PMID:21871821|PMID:21909114|PMID:22211815|PMID:22250184|PMID:23321623|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24703799|PMID:24803665|PMID:25326635|PMID:25326637|PMID:25359213|PMID:25741868|PMID:26242988|PMID:26822237|PMID:28492532|PMID:28650561|PMID:29402968|PMID:29493581|PMID:29948256|PMID:30415384|PMID:30732632|PMID:31160609|PMID:32078254|PMID:33452774|PMID:8246952 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1350859 D RGD:7240710 20190315 OMIM 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:12110640|PMID:12460918|PMID:12720172|PMID:14982869|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19881948|PMID:20609353|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20949621|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22407852|PMID:22499344|PMID:22683711|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24803665|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:26372703|PMID:28492532|PMID:29298116|PMID:29948256|PMID:30443000|PMID:3122217|PMID:31891627|PMID:7773929|PMID:8439212 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:0070004 myeloid neoplasm ISO RGD:1550157 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.G12D (mouse) PMID:21451123|REF_RGD_ID:11060138 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:12460918|PMID:15696205|PMID:16361624|PMID:16618717|PMID:17384584|PMID:17704260|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22722830|PMID:23182985|PMID:23406027|PMID:25157968|PMID:26242988|PMID:28492532|PMID:6695174 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:0080365 endometrial hyperplasia ISO RGD:1350859 D RGD:9068941 20200609 RGD PMID:19419940|REF_RGD_ID:2314912 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:0080690 RASopathy ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rasopathy | ClinVar Annotator: match by term: rasopathies PMID:12110640|PMID:12460918|PMID:14982869|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16474404|PMID:16474405|PMID:16618717|PMID:16773572|PMID:16921267|PMID:16987887|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17468812|PMID:17551339|PMID:17601930|PMID:17704260|PMID:17875937|PMID:17875939|PMID:17910045|PMID:18316791|PMID:18386799|PMID:18456719|PMID:18509354|PMID:18594010|PMID:18628094|PMID:18794081|PMID:18922928|PMID:18958496|PMID:19018267|PMID:19020799|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19396835|PMID:19679400|PMID:19773371|PMID:20112233|PMID:20147967|PMID:20526288|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20926413|PMID:20949522|PMID:20949621|PMID:20978259|PMID:21062266|PMID:21063026|PMID:21079152|PMID:21228335|PMID:21398618|PMID:21686179|PMID:21784453|PMID:21871821|PMID:21909114|PMID:21975775|PMID:22025163|PMID:22211815|PMID:22392911|PMID:22407852|PMID:22488932|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22734028|PMID:2278970|PMID:22980975|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23321623|PMID:23406027|PMID:23531339|PMID:23548132|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24382853|PMID:24558511|PMID:24703799|PMID:24720724|PMID:24803665|PMID:25044103|PMID:25157968|PMID:25251940|PMID:25326635|PMID:25326637|PMID:25359213|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26242988|PMID:26521233|PMID:26580448|PMID:26623049|PMID:26822237|PMID:26970110|PMID:26985062|PMID:27450488|PMID:28492532|PMID:28583095|PMID:28650561|PMID:29298116|PMID:29402968|PMID:29493581|PMID:29948256|PMID:30289595|PMID:30443000|PMID:30732632|PMID:30891959|PMID:31117243|PMID:3122217|PMID:31891627|PMID:32078254|PMID:33452774|PMID:3627975|PMID:7773929|PMID:7877967|PMID:8234268|PMID:8246952|PMID:8439212 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:0080690 RASopathy ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:12110640|PMID:12460918|PMID:12720172|PMID:14982869|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16474404|PMID:16474405|PMID:16618717|PMID:16773572|PMID:16921267|PMID:16987887|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17468812|PMID:17551339|PMID:17576681|PMID:17704260|PMID:17875937|PMID:17875939|PMID:17910045|PMID:18316791|PMID:18386799|PMID:18456719|PMID:18509354|PMID:18594010|PMID:18628094|PMID:18794081|PMID:18922928|PMID:18958496|PMID:19018267|PMID:19020799|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19396835|PMID:19679400|PMID:19773371|PMID:20112233|PMID:20147967|PMID:20186801|PMID:20526288|PMID:20570890|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20926413|PMID:20949522|PMID:20949621|PMID:20972464|PMID:20978259|PMID:21062266|PMID:21063026|PMID:21079152|PMID:21228335|PMID:21398618|PMID:21686179|PMID:21784453|PMID:21871821|PMID:21909114|PMID:21975775|PMID:22025163|PMID:22211815|PMID:22392911|PMID:22407852|PMID:22488932|PMID:22495831|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22722830|PMID:22734028|PMID:2278970|PMID:22980975|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23321623|PMID:23325582|PMID:23406027|PMID:23531339|PMID:23548132|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24382853|PMID:24558511|PMID:24703799|PMID:24720724|PMID:24803665|PMID:24836576|PMID:25044103|PMID:25157968|PMID:25251940|PMID:25326635|PMID:25326637|PMID:25359213|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26110767|PMID:26242988|PMID:26521233|PMID:26623049|PMID:26822237|PMID:26970110|PMID:28492532|PMID:28583095|PMID:28650561|PMID:29298116|PMID:29402968|PMID:29493581|PMID:29758562|PMID:29948256|PMID:30289595|PMID:30443000|PMID:30448735|PMID:30732632|PMID:30891959|PMID:31117243|PMID:3122217|PMID:31891627|PMID:32078254|PMID:32581362|PMID:32934698|PMID:33452774|PMID:3627975|PMID:6695174|PMID:7773929|PMID:8234268|PMID:8246952|PMID:8439212|PMID:9536098 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:0080764 hereditary diffuse gastric cancer ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary diffuse gastric cancer PMID:12110640|PMID:14982869|PMID:17056636|PMID:17324647|PMID:18628094|PMID:20652921|PMID:20949621|PMID:24033266|PMID:24803665|PMID:25741868|PMID:28492532|PMID:29948256 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:1350859 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:18316791|PMID:19018267|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19881948|PMID:20609353|PMID:20921462|PMID:20921465|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22235099|PMID:22407852|PMID:22683711|PMID:2278970|PMID:22897852|PMID:23096712|PMID:23406027|PMID:24033266|PMID:25157968|PMID:26372703|PMID:29298116|PMID:3122217|PMID:31891627|PMID:8439212 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:0110117 autoimmune lymphoproliferative syndrome type 4 ISO RGD:1350859 D RGD:7240710 20180130 OMIM 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:0110117 autoimmune lymphoproliferative syndrome type 4 ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 4 | ClinVar Annotator: match by term: RAS-associated autoimmune leukoproliferative disorder PMID:12110640|PMID:12460918|PMID:12720172|PMID:14982869|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20949621|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22734028|PMID:2278970|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24720724|PMID:24803665|PMID:25044103|PMID:25157968|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26623049|PMID:28492532|PMID:29298116|PMID:29948256|PMID:30443000|PMID:3122217|PMID:31891627|PMID:3627975|PMID:7773929|PMID:8439212 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:0111162 epidermal nevus ISO RGD:1350859 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC | ClinVar Annotator: match by term: Nevus sebaceous PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19881948|PMID:20609353|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22734028|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24720724|PMID:25044103|PMID:25157968|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26372703|PMID:26623049|PMID:28492532|PMID:29298116|PMID:30443000|PMID:3122217|PMID:31891627|PMID:3627975|PMID:7773929|PMID:8439212 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:0111460 cardiofaciocutaneous syndrome 1 ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 PMID:17056636|PMID:18958496|PMID:21784453|PMID:24033266|PMID:25741868|PMID:28492532|PMID:8234268 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:0111461 cardiofaciocutaneous syndrome 2 ISO RGD:1350859 D RGD:7240710 20180130 OMIM 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:0111461 cardiofaciocutaneous syndrome 2 ISO RGD:1350859 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 2 PMID:12110640|PMID:14982869|PMID:16474404|PMID:16474405|PMID:16773572|PMID:17056636|PMID:17324647|PMID:17409930|PMID:17551339|PMID:17875937|PMID:17875939|PMID:18386799|PMID:18456719|PMID:18628094|PMID:19396835|PMID:20652921|PMID:20949621|PMID:21062266|PMID:21797849|PMID:21871821|PMID:23059812|PMID:24033266|PMID:24703799|PMID:24803665|PMID:25326637|PMID:25741868|PMID:26037647|PMID:26242988|PMID:28492532|PMID:28650561|PMID:29493581|PMID:29948256|PMID:30732632|PMID:8246952 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:0111530 linear nevus sebaceous syndrome ISO RGD:1350859 D RGD:7240710 20180130 OMIM 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:0111530 linear nevus sebaceous syndrome ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Linear nevus sebaceous PMID:12110640|PMID:12460918|PMID:12720172|PMID:14982869|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20949621|PMID:21079152|PMID:21228335|PMID:21975775|PMID:22025163|PMID:22407852|PMID:22499344|PMID:22683711|PMID:2278970|PMID:23014527|PMID:23096712|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24803665|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:28492532|PMID:29298116|PMID:29948256|PMID:30443000|PMID:3122217|PMID:31891627|PMID:7773929|PMID:8439212 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:0111705 oculoectodermal syndrome ISO RGD:1350859 D RGD:7240710 20190918 OMIM 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:0111705 oculoectodermal syndrome ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Aplasia cutis congenita with epibulbar dermoids | ClinVar Annotator: match by term: OCULOECTODERMAL SYNDROME, SOMATIC | ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome PMID:12110640|PMID:12460918|PMID:14982869|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20147967|PMID:20570890|PMID:20652921|PMID:20921462|PMID:20921465|PMID:20949621|PMID:20978259|PMID:21063026|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22392911|PMID:22407852|PMID:22571758|PMID:22734028|PMID:2278970|PMID:23182985|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24720724|PMID:24740626|PMID:24803665|PMID:24836576|PMID:25157968|PMID:25251940|PMID:2547513|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26110767|PMID:26623049|PMID:26970110|PMID:28492532|PMID:29948256|PMID:30289595|PMID:30448735|PMID:30891959|PMID:3122217|PMID:32934698|PMID:3627975|PMID:8456858 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:10283 prostate cancer ISO RGD:1550157 D RGD:9068941 20220825 MouseDO OMIM:176807 | OMIM:300147 | OMIM:300704 | OMIM:601518 | OMIM:602759 | OMIM:608656 | OMIM:608658 | OMIM:609299 | OMIM:609558 | OMIM:610321 | OMIM:610997 | OMIM:611100 | OMIM:611868 | OMIM:611928 | OMIM:611955 | OMIM:611958 | OMIM:611959 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:3122217 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:10534 stomach cancer ISO RGD:1350859 D RGD:7240710 20220209 OMIM 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:10534 stomach cancer ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:12110640|PMID:12460918|PMID:12720172|PMID:14982869|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18456719|PMID:18594010|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20949621|PMID:21079152|PMID:21228335|PMID:21975775|PMID:22025163|PMID:22407852|PMID:22499344|PMID:22683711|PMID:2278970|PMID:23014527|PMID:23096712|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24803665|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:26242988|PMID:26521233|PMID:28492532|PMID:29298116|PMID:29948256|PMID:30443000|PMID:3122217|PMID:31891627|PMID:7773929|PMID:8439212 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:1059 intellectual disability ISO RGD:1350859 D RGD:9068941 20200609 RGD Costello syndrome, OMIM:218040 DNA:transversion:CDS:heterozygous 15A>T, amino acid K5N PMID:17056636|REF_RGD_ID:1600477 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:10763 hypertension ISO RGD:1550157 D RGD:9068941 20200609 RGD PMID:15864294|REF_RGD_ID:1581757 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:11054 urinary bladder cancer ISO RGD:1350859 D RGD:7240710 20180130 OMIM 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:11054 urinary bladder cancer ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Bladder cancer, transitional cell, somatic PMID:12110640|PMID:12460918|PMID:14982869|PMID:1553789|PMID:15696205|PMID:16361624|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17384584|PMID:17409930|PMID:17704260|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20652921|PMID:20921462|PMID:20921465|PMID:20949621|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22722830|PMID:23182985|PMID:23406027|PMID:24033266|PMID:24803665|PMID:25157968|PMID:25741868|PMID:26242988|PMID:28492532|PMID:29948256|PMID:6695174 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:1107 esophageal carcinoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:16361624|PMID:16618717|PMID:18316791|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:26619011|PMID:30891959 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:12930 dilated cardiomyopathy ISO RGD:1550157 D RGD:9068941 20200609 RGD PMID:15864294|REF_RGD_ID:1581757 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:1324 lung cancer ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:12110640|PMID:12460918|PMID:14982869|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17409930|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20652921|PMID:20921462|PMID:20921465|PMID:20949621|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:24033266|PMID:24803665|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29948256|PMID:3122217 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:14566 disease of cellular proliferation ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10673434|PMID:26595770 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:1612 breast cancer ISO RGD:1350859 D RGD:7240710 20180711 OMIM 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:1612 breast cancer ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20921462|PMID:20921465|PMID:20978259|PMID:21063026|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22392911|PMID:22407852|PMID:22571758|PMID:22734028|PMID:2278970|PMID:23182985|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24720724|PMID:25157968|PMID:2547513|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26623049|PMID:28492532|PMID:3122217|PMID:3627975 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:1749 squamous cell carcinoma ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19435901|PMID:25125259 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:1793 pancreatic cancer ISO RGD:1350859 D RGD:7240710 20180130 OMIM 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1350859 D RGD:9068941 20200609 RGD PMID:11115351|REF_RGD_ID:1581761 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:1909 melanoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:30891959|PMID:3122217 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:2355 anemia ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:2671 transitional cell carcinoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:3122217 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:2870 endometrial adenocarcinoma ISO RGD:2981 D RGD:9068941 20200609 RGD DNA:point mutation:CDS:p.G12D, p.G12S, p.Q61H (rat) PMID:10775052|REF_RGD_ID:1600499 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:2871 endometrial carcinoma ISO RGD:1350859 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:11745231|PMID:12460918|PMID:15696205|PMID:16361624|PMID:16474405|PMID:16618717|PMID:16987887|PMID:17056636|PMID:17384584|PMID:17704260|PMID:17875937|PMID:18316791|PMID:18794081|PMID:18958496|PMID:19018267|PMID:19020799|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20921462|PMID:20921465|PMID:20949621|PMID:21228335|PMID:21686179|PMID:21784453|PMID:21975775|PMID:23014527|PMID:23182985|PMID:23406027|PMID:23885229|PMID:24033266|PMID:24803665|PMID:25044103|PMID:25157968|PMID:25359213|PMID:25741868|PMID:28492532|PMID:29493581|PMID:31666701|PMID:35658005|PMID:6320174 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:289 endometriosis ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23284138 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:289 endometriosis ISO RGD:1550157 D RGD:9068941 20220825 MouseDO OMIM:131200 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:299 adenocarcinoma ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11745231|PMID:16247444|PMID:20101149 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:305 carcinoma ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10545420|PMID:20565773 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:3068 glioblastoma ISO RGD:1350859 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:19179066|REF_RGD_ID:13702872 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:3068 glioblastoma treatment ISO RGD:1550157 D RGD:9068941 20200609 RGD PMID:16166301|REF_RGD_ID:13702861 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:3069 malignant astrocytoma ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23817572 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:3069 malignant astrocytoma ISO RGD:1350859 D RGD:9068941 20200609 RGD sporadic pilocytic astrocytoma, OMIM:137800 DNA:transversion:CDS:amino acid G13R PMID:16247081|REF_RGD_ID:1600476 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:3069 malignant astrocytoma susceptibility ISO RGD:11440 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.G12D(mouse) PMID:24038521|REF_RGD_ID:13702858 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:3070 high grade glioma severity ISO RGD:1350859 D RGD:9068941 20200609 RGD PMID:22207524|REF_RGD_ID:13702477 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:3070 high grade glioma severity ISO RGD:1550157 D RGD:9068941 20200609 RGD PMID:19435821|REF_RGD_ID:13702860 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:3078 anaplastic astrocytoma ISO RGD:1350859 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:19179066|REF_RGD_ID:13702872 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:3121 gallbladder cancer ISO RGD:1350859 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Gallbladder cancer PMID:11745231|PMID:12460918|PMID:15696205|PMID:16361624|PMID:16618717|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:19794967|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22282465|PMID:23014527|PMID:23182985|PMID:23406027|PMID:25044103|PMID:25157968|PMID:31666701|PMID:35658005|PMID:6320174 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:3307 teratoma ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:3458 breast adenocarcinoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast adenocarcinoma, somatic PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20921462|PMID:20921465|PMID:20978259|PMID:21063026|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22392911|PMID:22407852|PMID:22571758|PMID:22734028|PMID:2278970|PMID:23182985|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24720724|PMID:25157968|PMID:2547513|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26623049|PMID:28492532|PMID:3122217|PMID:3627975 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:3490 Noonan syndrome ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:10590419|PMID:10681080|PMID:12110640|PMID:12460918|PMID:14982869|PMID:16361624|PMID:16474404|PMID:16474405|PMID:16618717|PMID:16773572|PMID:16921267|PMID:16987887|PMID:17056636|PMID:17211612|PMID:17324647|PMID:17384584|PMID:17468812|PMID:17551339|PMID:17601930|PMID:17704260|PMID:17875937|PMID:17875939|PMID:17994553|PMID:18316791|PMID:18386799|PMID:18456719|PMID:18509354|PMID:18628094|PMID:18794081|PMID:18922928|PMID:18958496|PMID:19020799|PMID:19114683|PMID:19255327|PMID:19396835|PMID:19679400|PMID:19773371|PMID:20112233|PMID:20186801|PMID:20526288|PMID:20652921|PMID:20921462|PMID:20921465|PMID:20926413|PMID:20949621|PMID:21062266|PMID:21228335|PMID:21686179|PMID:21779504|PMID:21784453|PMID:21871821|PMID:21909114|PMID:22211815|PMID:22250184|PMID:22488932|PMID:22495831|PMID:22980975|PMID:23321623|PMID:23406027|PMID:23531339|PMID:23548132|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24382853|PMID:24703799|PMID:24803665|PMID:25157968|PMID:25326637|PMID:25359213|PMID:25741868|PMID:26037647|PMID:26242988|PMID:28492532|PMID:28650561|PMID:29402968|PMID:29493581|PMID:29758562|PMID:29948256|PMID:30415384|PMID:30732632|PMID:31117243|PMID:32078254|PMID:33452774|PMID:8234268|PMID:8246952 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25347530|PMID:30654191 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:363 uterine cancer ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:3122217 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:3717 gastric adenocarcinoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:30891959|PMID:3122217 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:3883 Lynch syndrome ISO RGD:1350859 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:3905 lung carcinoma ISO RGD:1350859 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:11745231|PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:21079152|PMID:21228335|PMID:21975775|PMID:22025163|PMID:22407852|PMID:22499344|PMID:22683711|PMID:2278970|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23406027|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:28492532|PMID:29298116|PMID:30443000|PMID:3122217|PMID:31666701|PMID:31891627|PMID:35658005|PMID:6320174|PMID:7773929|PMID:8439212 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:3907 lung squamous cell carcinoma ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17384584|PMID:17704260|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23182985|PMID:23325582|PMID:23406027|PMID:25157968|PMID:26242988|PMID:26619011|PMID:28492532|PMID:3122217|PMID:6695174 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-small cell lung cancer | ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:11745231|PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16247081|PMID:16361624|PMID:16434492|PMID:16474404|PMID:16618717|PMID:17062680|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18594010|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19396835|PMID:19679400|PMID:19773371|PMID:19794967|PMID:19881948|PMID:20526288|PMID:20609353|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20926413|PMID:20949522|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22282465|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22722830|PMID:22734028|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23325582|PMID:23406027|PMID:23548132|PMID:24033266|PMID:24382853|PMID:24558511|PMID:24628546|PMID:24720724|PMID:24836576|PMID:25044103|PMID:25157968|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26242988|PMID:26372703|PMID:26521233|PMID:26619011|PMID:26623049|PMID:26970110|PMID:28492532|PMID:29298116|PMID:30443000|PMID:30448735|PMID:30732632|PMID:30891959|PMID:3122217|PMID:31666701|PMID:31891627|PMID:32581362|PMID:35658005|PMID:3627975|PMID:6320174|PMID:6695174|PMID:7773929|PMID:8439212 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:3910 lung adenocarcinoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:11745231|PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:19794967|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22282465|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23014527|PMID:23182985|PMID:23325582|PMID:23406027|PMID:25044103|PMID:25157968|PMID:26619011|PMID:3122217|PMID:31666701|PMID:6320174 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:3910 lung adenocarcinoma ISO RGD:1350859 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:11745231|PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:19794967|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22282465|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23014527|PMID:23182985|PMID:23325582|PMID:23406027|PMID:25044103|PMID:25157968|PMID:26619011|PMID:3122217|PMID:31666701|PMID:35658005|PMID:6320174 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:3962 thyroid gland follicular carcinoma ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27440272 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:3973 thyroid gland medullary carcinoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medullary thyroid gland carcinoma PMID:12460918|PMID:15696205|PMID:16361624|PMID:16618717|PMID:17062680|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20921462|PMID:20921465|PMID:21228335|PMID:23406027|PMID:24033266|PMID:25157968 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:3122217 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:4440 seminoma ISO RGD:1350859 D RGD:9068941 20200609 RGD PMID:8816895|REF_RGD_ID:2314915 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:4450 renal cell carcinoma ISO RGD:1350859 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:11851621|REF_RGD_ID:2314914 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:4851 pilocytic astrocytoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic PMID:12460918|PMID:15696205|PMID:16247081|PMID:16361624|PMID:16618717|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20921462|PMID:20921465|PMID:21228335|PMID:23406027|PMID:24033266|PMID:25157968 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:4905 pancreatic carcinoma ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:12110640|PMID:12460918|PMID:12720172|PMID:14982869|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19881948|PMID:20609353|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20949621|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22407852|PMID:22499344|PMID:22683711|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24803665|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:26372703|PMID:28492532|PMID:29298116|PMID:29948256|PMID:30443000|PMID:3122217|PMID:31891627|PMID:7773929|PMID:8439212 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:1550157 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:26059825|REF_RGD_ID:11075076 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:2981 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:26059825|REF_RGD_ID:11075076 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:4927 Klatskin's tumor disease_progression ISO RGD:1350859 D RGD:9068941 20210430 RGD DNA:mutations PMID:33387086|REF_RGD_ID:126848756 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:1550157 D RGD:9068941 20220825 MouseDO 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1350859 D RGD:9068941 20200609 RGD DNA:mutations:: PMID:24139215|REF_RGD_ID:14398746 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:4947 cholangiocarcinoma ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520|PMID:8968066 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:5517 stomach carcinoma ISO RGD:1350859 D RGD:9068941 20200609 RGD gastric cancer, OMIM:137215 DNA:point_mutation:CDS:amino acid G12S PMID:7773929|REF_RGD_ID:1600468 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1550157 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.G12D (mouse) PMID:23673656|REF_RGD_ID:11060136 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:5744 ovary serous adenocarcinoma ISO RGD:1350859 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary low grade serous adenocarcinoma of ovary PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:21079152|PMID:21228335|PMID:21975775|PMID:22025163|PMID:22407852|PMID:22499344|PMID:22683711|PMID:2278970|PMID:23014527|PMID:23096712|PMID:23255105|PMID:23406027|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:28492532|PMID:29298116|PMID:30443000|PMID:3122217|PMID:31891627|PMID:7773929|PMID:8439212 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:630 genetic disease ISO RGD:1350859 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16474404|PMID:16474405|PMID:16618717|PMID:16773572|PMID:16987887|PMID:17056636|PMID:17332249|PMID:17384584|PMID:17551339|PMID:17704260|PMID:17875937|PMID:18316791|PMID:18386799|PMID:18456719|PMID:18794081|PMID:18958496|PMID:19018267|PMID:19020799|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19396835|PMID:19679400|PMID:19773371|PMID:20921462|PMID:20921465|PMID:20949621|PMID:20978259|PMID:21062266|PMID:21063026|PMID:21228335|PMID:21398618|PMID:21686179|PMID:21784453|PMID:21871821|PMID:21975775|PMID:22392911|PMID:22407852|PMID:22571758|PMID:22734028|PMID:2278970|PMID:23182985|PMID:23406027|PMID:23885229|PMID:24033266|PMID:24356096|PMID:24558511|PMID:24703799|PMID:24720724|PMID:24728327|PMID:24803665|PMID:25157968|PMID:25326637|PMID:25359213|PMID:2547513|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26037647|PMID:26242988|PMID:26623049|PMID:26854235|PMID:28492532|PMID:28650561|PMID:29493581|PMID:3122217|PMID:3627975 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:6536 plasma cell neoplasm ISO RGD:1350859 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17062680|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:19794967|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22282465|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23182985|PMID:23325582|PMID:23406027|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:30891959|PMID:3122217 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:657 adenoma ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10545420|PMID:10813127|PMID:25851810|PMID:8761429 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:6726 fibrillary astrocytoma ISO RGD:1350859 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:19179066|REF_RGD_ID:13702872 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:30891959|PMID:3122217 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma induced ISO RGD:2981 D RGD:9068941 20200609 RGD aflatoxin B1 induced:DNA:transversion,transition mutations:cds: PMID:8446626|REF_RGD_ID:11568697 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:7235 pancreatic mucinous cystadenoma severity ISO RGD:1350859 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:28570009|REF_RGD_ID:14398747 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:767 muscular atrophy ISO RGD:2981 D RGD:9068941 20220224 RGD associated with microgravity; mRNA:increased expression:gastrocnemius (rat) PMID:14638460|REF_RGD_ID:151361116 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:769 neuroblastoma ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:8552 chronic myeloid leukemia ISO RGD:1350859 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:18316791|PMID:19018267|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19881948|PMID:20609353|PMID:20921462|PMID:20921465|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22235099|PMID:22407852|PMID:22683711|PMID:2278970|PMID:22897852|PMID:23096712|PMID:23406027|PMID:24033266|PMID:25157968|PMID:26372703|PMID:29298116|PMID:3122217|PMID:31891627|PMID:8439212 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:8567 Hodgkin's lymphoma ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Classic Hodgkin lymphoma PMID:16361624|PMID:16618717|PMID:18316791|PMID:19114683|PMID:19679400|PMID:20147967|PMID:20570890|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21398618|PMID:25157968|PMID:25251940|PMID:26110767|PMID:26970110|PMID:28492532|PMID:30289595|PMID:30891959|PMID:32934698 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:8634 prostate carcinoma in situ ISO RGD:1550157 D RGD:9068941 20200609 RGD PMID:19117991|REF_RGD_ID:2314913 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:8683 myeloid sarcoma ISO RGD:1350859 D RGD:9068941 20200609 RGD associated with Leukemia, Myeloid, Acute;DNA:missense mutation:exon:p.G12C (human) PMID:23564351|REF_RGD_ID:11060142 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:8923 skin melanoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:30891959|PMID:3122217 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9000011 Gallbladder Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24997986 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9000217 Stomach Neoplasms ISO RGD:1350859 D RGD:9068941 20230223 CTD CTD Direct Evidence: marker/mechanism PMID:10874023|PMID:11397402 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9000918 Disease Progression ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30654191 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8635384 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1550157 D RGD:9068941 20200609 RGD associated with Fibrosarcoma;mRNA,protein:decreased expression:: PMID:3552201|REF_RGD_ID:11570402 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1350859 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:mutation: : PMID:29032374|REF_RGD_ID:14398745 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1350859 D RGD:9068941 20200609 RGD associated with colorectal cancer; DNA:mutation:cds: PMID:27264476|REF_RGD_ID:14398751 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1350859 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:mutations: : PMID:26210240|REF_RGD_ID:11086960 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1350859 D RGD:9068941 20220616 RGD associated with stomach cancer; human cells in mouse model PMID:27431311|REF_RGD_ID:152995400 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9001039 Leukocytosis ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8603461 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9001586 Experimental Liver Neoplasms disease_progression ISO RGD:2981 D RGD:9068941 20220707 RGD mRNA:increased expression:liver (rat) PMID:19533683|REF_RGD_ID:2315050 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9002170 Experimental Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10813127|PMID:21311774|PMID:25851810|PMID:26390243|PMID:9205081 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:3122217 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9002265 Kidney Neoplasms ISO RGD:2981 D RGD:9068941 20200609 RGD PMID:9020896|REF_RGD_ID:11570401 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1550157 D RGD:9068941 20200609 RGD PMID:19117991|REF_RGD_ID:2314913 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9002650 Sebaceous Nevus Syndrome and Hemimegalencephaly ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly PMID:12110640|PMID:12460918|PMID:12720172|PMID:14982869|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20949621|PMID:21079152|PMID:21228335|PMID:21975775|PMID:22025163|PMID:22407852|PMID:22499344|PMID:22683711|PMID:2278970|PMID:23014527|PMID:23096712|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24803665|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:28492532|PMID:29298116|PMID:29948256|PMID:30443000|PMID:3122217|PMID:31891627|PMID:7773929|PMID:8439212 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9002720 Splenomegaly ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1350859 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:11745231|PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18594010|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19794967|PMID:19881948|PMID:20609353|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22282465|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22722830|PMID:22734028|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24720724|PMID:25044103|PMID:25157968|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26242988|PMID:26372703|PMID:26521233|PMID:26623049|PMID:28492532|PMID:29298116|PMID:30443000|PMID:3122217|PMID:31666701|PMID:31891627|PMID:35658005|PMID:3627975|PMID:6320174|PMID:6695174|PMID:7773929|PMID:8439212 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9002801 Recurrence ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9002928 Colonic Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10813127|PMID:12800193|PMID:12839936|PMID:17192441|PMID:18372904|PMID:19424582 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9003155 Parasitic Liver Diseases ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9003196 Penile Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18355852 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 RGD DNA:point mutation:exon (human) PMID:14984964|REF_RGD_ID:2314838 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9003571 Paraproteinemias ISO RGD:1350859 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17062680|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:19794967|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22282465|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23182985|PMID:23325582|PMID:23406027|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:30891959|PMID:3122217 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9003694 Cecal Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14688030 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1350859 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms PMID:19542870|REF_RGD_ID:2314910 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9004268 Uterine Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17325976 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9004547 Thyroid Neoplasms ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:11745231|PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16247081|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17062680|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18594010|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19794967|PMID:19881948|PMID:20526288|PMID:20609353|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22722830|PMID:22734028|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23325582|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24628546|PMID:24720724|PMID:24836576|PMID:25044103|PMID:25157968|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26242988|PMID:26372703|PMID:26521233|PMID:26619011|PMID:26623049|PMID:26970110|PMID:28492532|PMID:29298116|PMID:30443000|PMID:30448735|PMID:30891959|PMID:3122217|PMID:31666701|PMID:31891627|PMID:35658005|PMID:3627975|PMID:6320174|PMID:6695174|PMID:7773929|PMID:8439212 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:1350859 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1 PMID:17056636|PMID:17468812|PMID:17704260|PMID:18386799|PMID:20949621|PMID:21909114|PMID:22211815|PMID:24033266|PMID:24037001|PMID:24803665|PMID:25741868|PMID:28492532|PMID:28583095|PMID:29402968|PMID:32078254|PMID:33452774 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9005172 Lung Neoplasms ISO RGD:1350859 D RGD:7240710 20180130 OMIM 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9005474 Experimental Sarcoma ISO RGD:2981 D RGD:9068941 20200609 RGD A to T transversion; Gln to His substitution PMID:11295286|REF_RGD_ID:1598680 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9006205 Animal Disease Models ISO RGD:1350859 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:26390243|PMID:27588471|PMID:33380422 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30654191 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9006827 Lung Reperfusion Injury ameliorates ISO RGD:1550157 D RGD:9068941 20220915 RGD PMID:34238924|REF_RGD_ID:153350155 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9007188 Liver Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10629081|PMID:12211074 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9007364 Mouth Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19435901 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:2981 D RGD:9068941 20200609 RGD PMID:8913708|REF_RGD_ID:11062095 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27510461 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9007632 Encephalocraniocutaneous Lipomatosis ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:20147967|PMID:20570890|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22734028|PMID:2278970|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24720724|PMID:24740626|PMID:24836576|PMID:25044103|PMID:25157968|PMID:25251940|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26110767|PMID:26619011|PMID:26623049|PMID:26970110|PMID:28492532|PMID:29298116|PMID:30289595|PMID:30443000|PMID:30448735|PMID:30891959|PMID:3122217|PMID:31891627|PMID:32934698|PMID:3627975|PMID:7773929|PMID:8439212|PMID:8456858 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9007653 Multiple Abnormalities ISO RGD:1350859 D RGD:9068941 20200609 RGD Costello syndrome, OMIM:218040 DNA:transversion:CDS:heterozygous 15A>T, amino acid K5N PMID:17056636|REF_RGD_ID:1600477 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9007702 Carcinogenesis ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26595770|PMID:29247004 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9007715 Endometrial Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 RGD PMID:19960433|REF_RGD_ID:2314907 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9008386 Hydrops Fetalis ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:24549645|PMID:25741868 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:11745231|PMID:12460918|PMID:12720172|PMID:15093544|PMID:1553789|PMID:15696205|PMID:15842656|PMID:16247081|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17062680|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18594010|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19794967|PMID:19881948|PMID:20147967|PMID:20526288|PMID:20570890|PMID:20609353|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22282465|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22722830|PMID:22734028|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23325582|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24628546|PMID:24720724|PMID:24836576|PMID:25044103|PMID:25157968|PMID:25251940|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26110767|PMID:26242988|PMID:26372703|PMID:26521233|PMID:26619011|PMID:26623049|PMID:26970110|PMID:28492532|PMID:29298116|PMID:30289595|PMID:30443000|PMID:30448735|PMID:30891959|PMID:3122217|PMID:31666701|PMID:31891627|PMID:32581362|PMID:32934698|PMID:35658005|PMID:3627975|PMID:6320174|PMID:6695174|PMID:7773929|PMID:8439212 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9008640 Capillary Malformation-Arteriovenous Malformation 1 ISO RGD:1350859 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:21079152|PMID:21228335|PMID:21975775|PMID:22025163|PMID:22407852|PMID:22499344|PMID:22683711|PMID:2278970|PMID:23014527|PMID:23096712|PMID:23255105|PMID:23406027|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:28492532|PMID:29298116|PMID:30443000|PMID:3122217|PMID:31891627|PMID:7773929|PMID:8439212 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9008939 Breast Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9008939 Breast Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 RGD breast adenocarcinoma cell line, OMIM:114480 DNA:point_mutation:CDS:amino acid G13D PMID:3627975|REF_RGD_ID:1600466 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:12110640|PMID:14645534|PMID:14982869|PMID:16474404|PMID:16474405|PMID:16773572|PMID:17056636|PMID:17324647|PMID:17409930|PMID:17551339|PMID:17875937|PMID:18456719|PMID:18628094|PMID:20652921|PMID:20949621|PMID:21062266|PMID:21871821|PMID:22495831|PMID:24033266|PMID:24703799|PMID:24803665|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28583095|PMID:29948256|PMID:31117243|PMID:9362444 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9009116 Urinary Bladder Neoplasm ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Urinary Bladder Neoplasms PMID:12110640|PMID:12460918|PMID:14982869|PMID:15696205|PMID:16361624|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17384584|PMID:17409930|PMID:17704260|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20652921|PMID:20921462|PMID:20921465|PMID:20949621|PMID:21228335|PMID:21975775|PMID:22722830|PMID:23182985|PMID:23406027|PMID:24033266|PMID:24803665|PMID:25157968|PMID:25741868|PMID:26242988|PMID:28492532|PMID:29948256|PMID:6695174 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:1350859 D RGD:7240710 20180130 OMIM 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:12110640|PMID:12460918|PMID:12720172|PMID:14982869|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19881948|PMID:20609353|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20949621|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22722830|PMID:22734028|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23325582|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24720724|PMID:24803665|PMID:25044103|PMID:25157968|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26372703|PMID:26619011|PMID:26623049|PMID:28492532|PMID:29298116|PMID:29948256|PMID:30443000|PMID:3122217|PMID:31891627|PMID:32581362|PMID:3627975|PMID:7773929|PMID:8439212|PMID:8955068 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma PMID:12460918|PMID:15696205|PMID:16361624|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19114683|PMID:19679400|PMID:19794967|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22282465|PMID:23182985|PMID:25157968 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9256 colorectal cancer disease_progression ISO RGD:1350859 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.GLY12ASP,GLY12Val,GLY13ALA,GLY13ASP(human) PMID:22971512|REF_RGD_ID:14398748 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9538 multiple myeloma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17062680|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:19794967|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22282465|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23182985|PMID:23325582|PMID:23406027|PMID:24033266|PMID:25157968|PMID:26619011|PMID:28492532|PMID:30891959|PMID:3122217 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9538 multiple myeloma ISO RGD:1350859 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17062680|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:19794967|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22282465|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23182985|PMID:23325582|PMID:23406027|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:30891959|PMID:3122217 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1350859 D RGD:9068941 20200609 RGD PMID:17910045|REF_RGD_ID:11060148 12014851 KRAS KRAS proto-oncogene, GTPase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:1350859 D RGD:9068941 20200609 RGD PMID:25917266|REF_RGD_ID:11060149 12014870 PCYT2 phosphate cytidylyltransferase 2, ethanolamine gene DOID:0112343 hereditary spastic paraplegia 82 ISO RGD:736348 D RGD:7240710 20200226 OMIM 12014870 PCYT2 phosphate cytidylyltransferase 2, ethanolamine gene DOID:0112343 hereditary spastic paraplegia 82 ISO RGD:736348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 82, autosomal recessive PMID:25741868|PMID:28492532|PMID:31637422|PMID:32889549 12014870 PCYT2 phosphate cytidylyltransferase 2, ethanolamine gene DOID:630 genetic disease ISO RGD:736348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:31637422|PMID:32889549 12014906 SLCO4A1 solute carrier organic anion transporter family member 4A1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12014906 SLCO4A1 solute carrier organic anion transporter family member 4A1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:735453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12014906 SLCO4A1 solute carrier organic anion transporter family member 4A1 gene DOID:0080600 COVID-19 ISO RGD:735453 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12014906 SLCO4A1 solute carrier organic anion transporter family member 4A1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12014906 SLCO4A1 solute carrier organic anion transporter family member 4A1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 12014906 SLCO4A1 solute carrier organic anion transporter family member 4A1 gene DOID:630 genetic disease ISO RGD:735453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014929 AGR3 anterior gradient 3, protein disulphide isomerase family member gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12014929 AGR3 anterior gradient 3, protein disulphide isomerase family member gene DOID:630 genetic disease ISO RGD:1604981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014941 MLEC malectin gene DOID:630 genetic disease ISO RGD:1354476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014950 PEX11B peroxisomal biogenesis factor 11 beta gene DOID:0050444 infantile Refsum disease ISO RGD:1321208 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL 12014950 PEX11B peroxisomal biogenesis factor 11 beta gene DOID:0081274 peroxisome biogenesis disorder 14B ISO RGD:1321208 D RGD:7240710 20180130 OMIM 12014950 PEX11B peroxisomal biogenesis factor 11 beta gene DOID:0081274 peroxisome biogenesis disorder 14B ISO RGD:1321208 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 14B PMID:10704444|PMID:20826455|PMID:22581968|PMID:25741868|PMID:28129423|PMID:28492532|PMID:31724321 12014950 PEX11B peroxisomal biogenesis factor 11 beta gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1321208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 12014950 PEX11B peroxisomal biogenesis factor 11 beta gene DOID:1540 parathyroid carcinoma ISO RGD:1321208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12014950 PEX11B peroxisomal biogenesis factor 11 beta gene DOID:5419 schizophrenia ISO RGD:1321208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12014950 PEX11B peroxisomal biogenesis factor 11 beta gene DOID:630 genetic disease ISO RGD:1321208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12014950 PEX11B peroxisomal biogenesis factor 11 beta gene DOID:83 cataract ISO RGD:1321208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract 12014950 PEX11B peroxisomal biogenesis factor 11 beta gene DOID:905 Zellweger syndrome ISO RGD:1321208 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum 12014950 PEX11B peroxisomal biogenesis factor 11 beta gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12014972 ZBED3 zinc finger BED-type containing 3 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1320128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 12014972 ZBED3 zinc finger BED-type containing 3 gene DOID:630 genetic disease ISO RGD:1320128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014972 ZBED3 zinc finger BED-type containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12014977 CKAP2 cytoskeleton associated protein 2 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1323189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12014977 CKAP2 cytoskeleton associated protein 2 gene DOID:1059 intellectual disability ISO RGD:1323189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12014977 CKAP2 cytoskeleton associated protein 2 gene DOID:630 genetic disease ISO RGD:1323189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014994 TRPC7 transient receptor potential cation channel subfamily C member 7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349355 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12014994 TRPC7 transient receptor potential cation channel subfamily C member 7 gene DOID:1324 lung cancer susceptibility ISO RGD:1349355 D RGD:9068941 20220616 RGD DNA:SNPs:: (rs11748198) (human) PMID:27617218|REF_RGD_ID:152995362 12014994 TRPC7 transient receptor potential cation channel subfamily C member 7 gene DOID:630 genetic disease ISO RGD:1349355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12014994 TRPC7 transient receptor potential cation channel subfamily C member 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12014994 TRPC7 transient receptor potential cation channel subfamily C member 7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349355 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12015012 KCNJ9 potassium inwardly rectifying channel subfamily J member 9 gene DOID:0060178 familial hemiplegic migraine ISO RGD:1343442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 12015012 KCNJ9 potassium inwardly rectifying channel subfamily J member 9 gene DOID:0060484 EAST syndrome ISO RGD:1343442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EAST syndrome PMID:28492532 12015012 KCNJ9 potassium inwardly rectifying channel subfamily J member 9 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1343442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12015012 KCNJ9 potassium inwardly rectifying channel subfamily J member 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1343442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12015012 KCNJ9 potassium inwardly rectifying channel subfamily J member 9 gene DOID:630 genetic disease ISO RGD:1343442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015012 KCNJ9 potassium inwardly rectifying channel subfamily J member 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12015029 GPRC6A G protein-coupled receptor class C group 6 member A gene DOID:0060163 body dysmorphic disorder ISO RGD:1352441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 12015029 GPRC6A G protein-coupled receptor class C group 6 member A gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1352441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 12015029 GPRC6A G protein-coupled receptor class C group 6 member A gene DOID:1059 intellectual disability ISO RGD:1352441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 12015029 GPRC6A G protein-coupled receptor class C group 6 member A gene DOID:10907 microcephaly ISO RGD:1352441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 12015029 GPRC6A G protein-coupled receptor class C group 6 member A gene DOID:1826 epilepsy ISO RGD:1352441 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12015029 GPRC6A G protein-coupled receptor class C group 6 member A gene DOID:1923 disorder of sexual development ISO RGD:1352441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 12015029 GPRC6A G protein-coupled receptor class C group 6 member A gene DOID:630 genetic disease ISO RGD:1352441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015029 GPRC6A G protein-coupled receptor class C group 6 member A gene DOID:9000495 Tremor ISO RGD:1352441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 12015029 GPRC6A G protein-coupled receptor class C group 6 member A gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12015042 GIMAP8 GTPase, IMAP family member 8 gene DOID:2843 long QT syndrome ISO RGD:1344762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 12015042 GIMAP8 GTPase, IMAP family member 8 gene DOID:630 genetic disease ISO RGD:1344762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015056 RAMP3 receptor activity modifying protein 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:737378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12015056 RAMP3 receptor activity modifying protein 3 gene DOID:630 genetic disease ISO RGD:737378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015056 RAMP3 receptor activity modifying protein 3 gene DOID:9000081 Lymphatic Metastasis ISO RGD:737378 D RGD:9068941 20220421 RGD associated with colorectal cancer; protein:increased expression:lymph node (human) PMID:23634287|REF_RGD_ID:151708733 12015056 RAMP3 receptor activity modifying protein 3 gene DOID:9256 colorectal cancer ISO RGD:737378 D RGD:9068941 20220609 RGD mRNA:increased expression:colorectum (human) PMID:21839130|REF_RGD_ID:152985531 12015063 MARCHF9 membrane associated ring-CH-type finger 9 gene DOID:630 genetic disease ISO RGD:1351043 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015063 MARCHF9 membrane associated ring-CH-type finger 9 gene DOID:6846 familial melanoma ISO RGD:1351043 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 12015081 E4F1 E4F transcription factor 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1348626 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 12015081 E4F1 E4F transcription factor 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1348626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 12015081 E4F1 E4F transcription factor 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1348626 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12015081 E4F1 E4F transcription factor 1 gene DOID:1826 epilepsy ISO RGD:1348626 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12015081 E4F1 E4F transcription factor 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1348626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12015081 E4F1 E4F transcription factor 1 gene DOID:2871 endometrial carcinoma ISO RGD:1348626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 12015081 E4F1 E4F transcription factor 1 gene DOID:630 genetic disease ISO RGD:1348626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015081 E4F1 E4F transcription factor 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1348626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 12015081 E4F1 E4F transcription factor 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1348626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30506647 12015113 TMBIM6 transmembrane BAX inhibitor motif containing 6 gene DOID:10286 prostate carcinoma ISO RGD:736097 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:12875974|REF_RGD_ID:2291960 12015113 TMBIM6 transmembrane BAX inhibitor motif containing 6 gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:3842 D RGD:9068941 20200609 RGD PMID:17054309|REF_RGD_ID:2291958 12015113 TMBIM6 transmembrane BAX inhibitor motif containing 6 gene DOID:3744 cervical squamous cell carcinoma disease_progression ISO RGD:736097 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix PMID:15337562|REF_RGD_ID:2291959 12015113 TMBIM6 transmembrane BAX inhibitor motif containing 6 gene DOID:630 genetic disease ISO RGD:736097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015113 TMBIM6 transmembrane BAX inhibitor motif containing 6 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:3842 D RGD:9068941 20200709 RGD mRNA,protein:decreased expression:brain PMID:30226536|REF_RGD_ID:35316073 12015113 TMBIM6 transmembrane BAX inhibitor motif containing 6 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:3842 D RGD:9068941 20200709 RGD PMID:30226536|REF_RGD_ID:35316073 12015113 TMBIM6 transmembrane BAX inhibitor motif containing 6 gene DOID:9004009 Reperfusion Injury ISO RGD:3842 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:18005084|REF_RGD_ID:2291961 12015138 KDM4B lysine demethylase 4B gene DOID:0050902 medulloblastoma ISO RGD:1349901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 12015138 KDM4B lysine demethylase 4B gene DOID:0050902 medulloblastoma ISO RGD:1349901 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (human) PMID:19270706|REF_RGD_ID:9587481 12015138 KDM4B lysine demethylase 4B gene DOID:0070068 autosomal dominant intellectual developmental disorder 38 ISO RGD:1349901 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 38 PMID:25741868 12015138 KDM4B lysine demethylase 4B gene DOID:10283 prostate cancer ISO RGD:1349901 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate (human) PMID:22120715|REF_RGD_ID:9586733 12015138 KDM4B lysine demethylase 4B gene DOID:10534 stomach cancer ISO RGD:1349901 D RGD:9068941 20200609 RGD mRNA:increased expression:gastric mucosa (human) PMID:22133676|REF_RGD_ID:9587739 12015138 KDM4B lysine demethylase 4B gene DOID:10534 stomach cancer severity ISO RGD:1349901 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:24077348|REF_RGD_ID:9587753 12015138 KDM4B lysine demethylase 4B gene DOID:10534 stomach cancer treatment ISO RGD:1349901 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:22133676|REF_RGD_ID:9587739 12015138 KDM4B lysine demethylase 4B gene DOID:11054 urinary bladder cancer ISO RGD:1349901 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:urinary bladder (human) PMID:21930796|REF_RGD_ID:9587740 12015138 KDM4B lysine demethylase 4B gene DOID:1324 lung cancer ISO RGD:1349901 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (human) PMID:21930796|REF_RGD_ID:9587740 12015138 KDM4B lysine demethylase 4B gene DOID:1612 breast cancer severity ISO RGD:1349901 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast (human) PMID:21445275|REF_RGD_ID:9587754 12015138 KDM4B lysine demethylase 4B gene DOID:1612 breast cancer treatment ISO RGD:1349901 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:21445275|REF_RGD_ID:9587754 12015138 KDM4B lysine demethylase 4B gene DOID:1909 melanoma ISO RGD:1349901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 12015138 KDM4B lysine demethylase 4B gene DOID:5940 malignant peripheral nerve sheath tumor ISO RGD:1349901 D RGD:9068941 20200609 RGD DNA:amplification:cds (human) PMID:21785329|REF_RGD_ID:9587769 12015138 KDM4B lysine demethylase 4B gene DOID:630 genetic disease ISO RGD:1349901 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:33232677 12015138 KDM4B lysine demethylase 4B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349901 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12015138 KDM4B lysine demethylase 4B gene DOID:9008255 Cognitive Impairment with or Without Cerebellar Ataxia ISO RGD:1349901 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cognitive impairment with or without cerebellar ataxia PMID:25741868 12015138 KDM4B lysine demethylase 4B gene DOID:9008443 Colorectal Neoplasms severity ISO RGD:1349901 D RGD:9068941 20200609 RGD protein:increased expression:colon mucosa (human) PMID:22345654|REF_RGD_ID:9586735 12015138 KDM4B lysine demethylase 4B gene DOID:9008506 Autosomal Dominant Intellectual Developmental Disorder 65 ISO RGD:1349901 D RGD:7240710 20210526 OMIM 12015138 KDM4B lysine demethylase 4B gene DOID:9008506 Autosomal Dominant Intellectual Developmental Disorder 65 ISO RGD:1349901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 65 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 65 PMID:25741868|PMID:33232677 12015138 KDM4B lysine demethylase 4B gene DOID:9256 colorectal cancer treatment ISO RGD:1349901 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:24473398|REF_RGD_ID:9587755 12015138 KDM4B lysine demethylase 4B gene DOID:986 alopecia areata ISO RGD:1349901 D RGD:9068941 20200609 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:21936853|REF_RGD_ID:9587460 12015174 RFPL4B ret finger protein like 4B gene DOID:0060163 body dysmorphic disorder ISO RGD:1606355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 12015174 RFPL4B ret finger protein like 4B gene DOID:630 genetic disease ISO RGD:1606355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015181 TTC33 tetratricopeptide repeat domain 33 gene DOID:630 genetic disease ISO RGD:1606815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015181 TTC33 tetratricopeptide repeat domain 33 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12015190 LOC100976417 putative SEC14-like protein 6 gene DOID:630 genetic disease ISO RGD:5132081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015209 PXDNL peroxidasin like gene DOID:630 genetic disease ISO RGD:1606718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015235 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:0060041 autism spectrum disorder ISO RGD:730900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12015235 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:0080472 developmental and epileptic encephalopathy 91 ISO RGD:730900 D RGD:7240710 20190315 OMIM 12015235 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:0080472 developmental and epileptic encephalopathy 91 ISO RGD:730900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood, 1 PMID:17576681|PMID:25262651|PMID:25741868|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30904718|PMID:32238909|PMID:32593294|PMID:33963760|PMID:8052858|PMID:8524402|PMID:9536098 12015235 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:12858 Huntington's disease ISO RGD:11134 D RGD:9068941 20200609 RGD PMID:19733666|REF_RGD_ID:6483320 12015235 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:11134 D RGD:9068941 20220825 MouseDO 12015235 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:730900 D RGD:9068941 20200609 RGD PMID:26436650|REF_RGD_ID:13515117 12015235 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:1826 epilepsy ISO RGD:730900 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25262651|PMID:25741868|PMID:28942967|PMID:29432562 12015235 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:2519 testicular disease ISO RGD:730900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17785681 12015235 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:2519 testicular disease treatment ISO RGD:11134 D RGD:9068941 20200609 RGD associated with Cadmium Poisoning PMID:17785681|REF_RGD_ID:13515119 12015235 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:3633 beta-mannosidosis ISO RGD:730900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 12015235 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:3910 lung adenocarcinoma ISO RGD:730900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 12015235 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:4001 ovarian carcinoma ISO RGD:730900 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:30365097 12015235 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:730900 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 12015235 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:4989 pancreatitis ISO RGD:730900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22952646 12015235 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:5419 schizophrenia ISO RGD:730900 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:15820226|REF_RGD_ID:13515121 12015235 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:557 kidney disease ISO RGD:3382 D RGD:9068941 20200609 RGD PMID:27009276|REF_RGD_ID:11537650 12015235 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:630 genetic disease ISO RGD:730900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25262651|PMID:25741868|PMID:28492532|PMID:28942967|PMID:29432562|PMID:32593294|PMID:33963760|PMID:8052858|PMID:8524402 12015235 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:893 Wilson disease ISO RGD:730900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 12015235 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:9000998 Brain Injuries ISO RGD:3382 D RGD:9068941 20200609 RGD protein: :hippocampus PMID:19751097|REF_RGD_ID:6483311 12015235 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:9000998 Brain Injuries ISO RGD:730900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14499481 12015235 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:9001596 Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development ISO RGD:730900 D RGD:7240710 20190315 OMIM 12015235 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:9001596 Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development ISO RGD:730900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development PMID:25741868|PMID:28492532|PMID:29432562|PMID:30904718 12015235 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:730900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12015235 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:9003936 Cardiomegaly ISO RGD:11134 D RGD:9068941 20200609 RGD PMID:12515860|REF_RGD_ID:734902 12015235 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:9004009 Reperfusion Injury ISO RGD:3382 D RGD:9068941 20200609 RGD PMID:14762344|REF_RGD_ID:1580702 12015235 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:11134 D RGD:9068941 20200609 RGD PMID:15336966|PMID:9568714|REF_RGD_ID:1579951|REF_RGD_ID:1579956 12015235 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:730900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18344631 12015235 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:9005141 Ventricular Tachycardia ISO RGD:11134 D RGD:9068941 20200609 RGD PMID:15537502|REF_RGD_ID:1580701 12015235 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:11134 D RGD:9068941 20200609 RGD PMID:9568714|REF_RGD_ID:1579956 12015235 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3382 D RGD:9068941 20200609 RGD PMID:16799071|REF_RGD_ID:1580700 12015235 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:9008582 Developmental Disease ISO RGD:730900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12015257 DCLRE1B DNA cross-link repair 1B gene DOID:0080690 RASopathy ISO RGD:1321192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12015257 DCLRE1B DNA cross-link repair 1B gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1321192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:25741868|PMID:28492532 12015257 DCLRE1B DNA cross-link repair 1B gene DOID:0111087 Fanconi anemia complementation group C ISO RGD:1321192 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group C PMID:25741868 12015257 DCLRE1B DNA cross-link repair 1B gene DOID:2476 hereditary spastic paraplegia ISO RGD:1321192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 12015257 DCLRE1B DNA cross-link repair 1B gene DOID:630 genetic disease ISO RGD:1321192 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12015257 DCLRE1B DNA cross-link repair 1B gene DOID:9001272 Hoyeraal Hreidarsson Syndrome ISO RGD:1321192 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome PMID:17576681|PMID:28492532|PMID:35007328|PMID:9536098 12015257 DCLRE1B DNA cross-link repair 1B gene DOID:9005448 Autosomal Recessive Dyskeratosis Congenita 8 ISO RGD:1321192 D RGD:7240710 20221214 OMIM 12015257 DCLRE1B DNA cross-link repair 1B gene DOID:9005448 Autosomal Recessive Dyskeratosis Congenita 8 ISO RGD:1321192 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 8 PMID:28492532|PMID:35007328 12015281 OGFOD3 2-oxoglutarate and iron dependent oxygenase domain containing 3 gene DOID:630 genetic disease ISO RGD:1602867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015303 KLHL6 kelch like family member 6 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1316764 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12015303 KLHL6 kelch like family member 6 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1316764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12015303 KLHL6 kelch like family member 6 gene DOID:0111546 Currarino syndrome ISO RGD:1316764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12015303 KLHL6 kelch like family member 6 gene DOID:2377 multiple sclerosis ISO RGD:1316764 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 12015303 KLHL6 kelch like family member 6 gene DOID:630 genetic disease ISO RGD:1316764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015303 KLHL6 kelch like family member 6 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:1316764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 12015314 TMEM87B transmembrane protein 87B gene DOID:630 genetic disease ISO RGD:1605922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015337 STRADB STE20 related adaptor beta gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1350818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12015337 STRADB STE20 related adaptor beta gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1350818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12015337 STRADB STE20 related adaptor beta gene DOID:0110983 Joubert syndrome 14 ISO RGD:1350818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 14 PMID:28492532 12015337 STRADB STE20 related adaptor beta gene DOID:630 genetic disease ISO RGD:1350818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015337 STRADB STE20 related adaptor beta gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1350818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12015337 STRADB STE20 related adaptor beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12015337 STRADB STE20 related adaptor beta gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1350818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12015357 DEDD2 death effector domain containing 2 gene DOID:0050888 syndromic intellectual disability ISO RGD:1353632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 12015357 DEDD2 death effector domain containing 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1353632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12015357 DEDD2 death effector domain containing 2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1353632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12015357 DEDD2 death effector domain containing 2 gene DOID:2340 craniosynostosis ISO RGD:1353632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:23354439|PMID:26097063|PMID:28492532|PMID:28808027 12015357 DEDD2 death effector domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1353632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12015357 DEDD2 death effector domain containing 2 gene DOID:630 genetic disease ISO RGD:1353632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015357 DEDD2 death effector domain containing 2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1353632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12015357 DEDD2 death effector domain containing 2 gene DOID:9269 maple syrup urine disease ISO RGD:1353632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12015375 TNNI1 troponin I1, slow skeletal type gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:732918 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12015375 TNNI1 troponin I1, slow skeletal type gene DOID:1540 parathyroid carcinoma ISO RGD:732918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12015375 TNNI1 troponin I1, slow skeletal type gene DOID:630 genetic disease ISO RGD:732918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015375 TNNI1 troponin I1, slow skeletal type gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:732918 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12015375 TNNI1 troponin I1, slow skeletal type gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12015391 APOBEC3C apolipoprotein B mRNA editing enzyme catalytic subunit 3C gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1317202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12015391 APOBEC3C apolipoprotein B mRNA editing enzyme catalytic subunit 3C gene DOID:630 genetic disease ISO RGD:1317202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015399 KLHDC9 kelch domain containing 9 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1605002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12015399 KLHDC9 kelch domain containing 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1605002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12015399 KLHDC9 kelch domain containing 9 gene DOID:630 genetic disease ISO RGD:1605002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015399 KLHDC9 kelch domain containing 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12015418 KIF13A kinesin family member 13A gene DOID:630 genetic disease ISO RGD:1317245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015458 COLEC10 collectin subfamily member 10 gene DOID:0060577 3MC syndrome 3 ISO RGD:1316172 D RGD:7240710 20190315 OMIM 12015458 COLEC10 collectin subfamily member 10 gene DOID:0060577 3MC syndrome 3 ISO RGD:1316172 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: 3MC syndrome 3 PMID:25741868|PMID:28301481 12015458 COLEC10 collectin subfamily member 10 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1316172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12015458 COLEC10 collectin subfamily member 10 gene DOID:206 hereditary multiple exostoses ISO RGD:1316172 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 12015458 COLEC10 collectin subfamily member 10 gene DOID:630 genetic disease ISO RGD:1316172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015458 COLEC10 collectin subfamily member 10 gene DOID:684 hepatocellular carcinoma ISO RGD:1316172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12015458 COLEC10 collectin subfamily member 10 gene DOID:9005421 Paget Disease of Bone 5, Juvenile-Onset ISO RGD:1316172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperphosphatasemia with bone disease PMID:106682|PMID:12124406 12015471 PSMD9 proteasome 26S subunit, non-ATPase 9 gene DOID:630 genetic disease ISO RGD:737461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015485 WDR45 WD repeat domain 45 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1348509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early onset epileptic encephalopathy PMID:26173968 12015485 WDR45 WD repeat domain 45 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12015485 WDR45 WD repeat domain 45 gene DOID:0070100 oculocutaneous albinism type VII ISO RGD:1348509 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism 12015485 WDR45 WD repeat domain 45 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1348509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12015485 WDR45 WD repeat domain 45 gene DOID:0080231 autosomal dominant intellectual developmental disorder 52 ISO RGD:1348509 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 52 PMID:25741868 12015485 WDR45 WD repeat domain 45 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1348509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12015485 WDR45 WD repeat domain 45 gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1348509 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:16199547|PMID:23176820|PMID:24368176|PMID:24621584|PMID:25741868|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:28711740 12015485 WDR45 WD repeat domain 45 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1348509 D RGD:7240710 20180130 OMIM 12015485 WDR45 WD repeat domain 45 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1348509 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 PMID:16199547|PMID:17576681|PMID:22892189|PMID:23176820|PMID:23435086|PMID:23687123|PMID:24368176|PMID:24621584|PMID:24896178|PMID:25263061|PMID:25326635|PMID:25356899|PMID:25533962|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26467025|PMID:26609730|PMID:26633542|PMID:26790960|PMID:27030146|PMID:27159028|PMID:27652284|PMID:27681470|PMID:28191889|PMID:28492532|PMID:28554332|PMID:28711740|PMID:28878728|PMID:28932395|PMID:29082105|PMID:29171013|PMID:29389947|PMID:29445477|PMID:29681108|PMID:29981852|PMID:30542205|PMID:30612247|PMID:30713893|PMID:31332960|PMID:31487502|PMID:31665836|PMID:32307390|PMID:32382396|PMID:32387008|PMID:34906502|PMID:9536098 12015485 WDR45 WD repeat domain 45 gene DOID:0111443 optic atrophy 2 ISO RGD:1348509 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Optic atrophy 2 12015485 WDR45 WD repeat domain 45 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1348509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12015485 WDR45 WD repeat domain 45 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1348509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12015485 WDR45 WD repeat domain 45 gene DOID:1059 intellectual disability ISO RGD:1348509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23687123|PMID:25533962|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32387008 12015485 WDR45 WD repeat domain 45 gene DOID:12849 autistic disorder ISO RGD:1348509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311|PMID:32581362 12015485 WDR45 WD repeat domain 45 gene DOID:1826 epilepsy ISO RGD:1348509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 12015485 WDR45 WD repeat domain 45 gene DOID:543 dystonia ISO RGD:1348509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12015485 WDR45 WD repeat domain 45 gene DOID:630 genetic disease ISO RGD:1348509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23176820|PMID:23687123|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26467025|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28191889|PMID:28492532|PMID:28554332|PMID:28932395|PMID:29171013|PMID:29981852|PMID:31487502|PMID:32307390|PMID:32382396 12015485 WDR45 WD repeat domain 45 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889|PMID:29942082 12015485 WDR45 WD repeat domain 45 gene DOID:9005923 CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED ISO RGD:1348509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral-cerebellar-coloboma syndrome, X-linked PMID:23176820|PMID:24368176|PMID:24621584|PMID:25326635|PMID:25741868|PMID:25744623|PMID:26609730|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:29389947 12015485 WDR45 WD repeat domain 45 gene DOID:9008086 Developmental Disabilities ISO RGD:1348509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:23176820|PMID:23687123|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741886|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:28932395|PMID:29171013|PMID:29981852|PMID:31487502|PMID:32382396 12015485 WDR45 WD repeat domain 45 gene DOID:9008582 Developmental Disease ISO RGD:1348509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12015485 WDR45 WD repeat domain 45 gene DOID:9775 diastolic heart failure ISO RGD:1348509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12015510 UTS2R urotensin 2 receptor gene DOID:0050700 cardiomyopathy ISO RGD:621884 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:myocardium PMID:18280445|REF_RGD_ID:2306796 12015510 UTS2R urotensin 2 receptor gene DOID:10763 hypertension ISO RGD:621884 D RGD:9068941 20200609 RGD PMID:14621188|REF_RGD_ID:1580812 12015510 UTS2R urotensin 2 receptor gene DOID:12932 endomyocardial fibrosis ISO RGD:621884 D RGD:9068941 20200609 RGD PMID:16919371|REF_RGD_ID:2306833 12015510 UTS2R urotensin 2 receptor gene DOID:3021 acute kidney failure ISO RGD:621884 D RGD:9068941 20200609 RGD PMID:15146030|REF_RGD_ID:2306847 12015510 UTS2R urotensin 2 receptor gene DOID:5844 myocardial infarction ISO RGD:621884 D RGD:9068941 20200609 RGD associated with Heart Failure, Congestive;mRNA:increased expression:heart ventricle PMID:15549273|REF_RGD_ID:2306846 12015510 UTS2R urotensin 2 receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:1342744 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:15492948|REF_RGD_ID:2306805 12015510 UTS2R urotensin 2 receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:621884 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney PMID:18796544|REF_RGD_ID:2306786 12015510 UTS2R urotensin 2 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621884 D RGD:9068941 20200609 RGD PMID:16267137|REF_RGD_ID:2306839 12015510 UTS2R urotensin 2 receptor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:621884 D RGD:9068941 20200609 RGD PMID:17900760|REF_RGD_ID:2306836 12015510 UTS2R urotensin 2 receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:1332177 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:19323985|REF_RGD_ID:2306785 12015514 GALC galactosylceramidase gene DOID:0050952 spastic ataxia ISO RGD:1347926 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:26795590|PMID:27638593|PMID:28492532|PMID:32576985|PMID:34445196 12015514 GALC galactosylceramidase gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:1347926 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:28492532 12015514 GALC galactosylceramidase gene DOID:10579 leukodystrophy ISO RGD:1347926 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:22520351|PMID:25741868|PMID:27638593|PMID:28492532|PMID:29286531|PMID:8940268|PMID:9338580 12015514 GALC galactosylceramidase gene DOID:10587 Krabbe disease ISO RGD:1347926 D RGD:7240710 20180130 OMIM 12015514 GALC galactosylceramidase gene DOID:10587 Krabbe disease ISO RGD:1347926 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30777126|PMID:31053700|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32089546|PMID:32576985|PMID:32860008|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098 12015514 GALC galactosylceramidase gene DOID:10587 Krabbe disease ISO RGD:1347926 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32089546|PMID:32576985|PMID:32860008|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098 12015514 GALC galactosylceramidase gene DOID:10587 Krabbe disease ISO RGD:1347926 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32089546|PMID:32342562|PMID:32576985|PMID:32860008|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:34445196|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098 12015514 GALC galactosylceramidase gene DOID:1059 intellectual disability ISO RGD:1347926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12015514 GALC galactosylceramidase gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1347926 D RGD:9068941 20200911 RGD mRNA:decreased expression:frontal cortex (human) PMID:30009661|REF_RGD_ID:38599170 12015514 GALC galactosylceramidase gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:1347926 D RGD:9068941 20200911 RGD associated with Guillain-Barre syndrome; protein:increased expression:Cerebrospinal fluid, serum (human) PMID:29301655|REF_RGD_ID:38599172 12015514 GALC galactosylceramidase gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:1347926 D RGD:9068941 20200911 RGD associated with Guillain-Barre syndrome; protein:increased expression:serum (human) PMID:12225900|PMID:27490360|REF_RGD_ID:38599168|REF_RGD_ID:38599169 12015514 GALC galactosylceramidase gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:1347926 D RGD:9068941 20200911 RGD protein:increased expression:serum (human) PMID:30396892|REF_RGD_ID:38599171 12015514 GALC galactosylceramidase gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:1552188 D RGD:9068941 20200911 RGD protein:increased expression:serum (mouse) PMID:30396892|REF_RGD_ID:38599171 12015514 GALC galactosylceramidase gene DOID:630 genetic disease ISO RGD:1347926 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20301416|PMID:20886637|PMID:21824559|PMID:21876145|PMID:22115770|PMID:22520351|PMID:23319190|PMID:24252386|PMID:24297913|PMID:25741868|PMID:26795590|PMID:26865610|PMID:27126738|PMID:27171547|PMID:27638583|PMID:27638592|PMID:27638593|PMID:28492532|PMID:30777126|PMID:32089546|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:8281145|PMID:8399327|PMID:8940268|PMID:9338580|PMID:9536098 12015514 GALC galactosylceramidase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12015514 GALC galactosylceramidase gene DOID:9006534 Nervous System Malformations ISO RGD:1347926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16199547|PMID:16607461|PMID:22115770|PMID:22520351|PMID:25741868|PMID:26795590|PMID:28492532|PMID:28547031|PMID:7437911|PMID:9272171 12015541 LBX2 ladybird homeobox 2 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1347358 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12015541 LBX2 ladybird homeobox 2 gene DOID:543 dystonia ISO RGD:1347358 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12015541 LBX2 ladybird homeobox 2 gene DOID:630 genetic disease ISO RGD:1347358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015541 LBX2 ladybird homeobox 2 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1347358 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12015547 AZI2 5-azacytidine induced 2 gene DOID:630 genetic disease ISO RGD:1605352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015562 NCEH1 neutral cholesterol ester hydrolase 1 gene DOID:1062 Fanconi syndrome ISO RGD:1606253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 12015562 NCEH1 neutral cholesterol ester hydrolase 1 gene DOID:14566 disease of cellular proliferation ISO RGD:1606253 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32171938 12015562 NCEH1 neutral cholesterol ester hydrolase 1 gene DOID:630 genetic disease ISO RGD:1606253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015572 ADTRP androgen dependent TFPI regulating protein gene DOID:3393 coronary artery disease ISO RGD:1313849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378986 12015572 ADTRP androgen dependent TFPI regulating protein gene DOID:630 genetic disease ISO RGD:1313849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015583 LOC100991118 defensin alpha 5 gene DOID:0050589 inflammatory bowel disease ISO RGD:1345754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18394979 12015583 LOC100991118 defensin alpha 5 gene DOID:2986 IgA glomerulonephritis ISO RGD:1345754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22197929|PMID:25305756 12015583 LOC100991118 defensin alpha 5 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1345754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17934846 12015583 LOC100991118 defensin alpha 5 gene DOID:630 genetic disease ISO RGD:1345754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015583 LOC100991118 defensin alpha 5 gene DOID:8577 ulcerative colitis ISO RGD:1345754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20452301 12015583 LOC100991118 defensin alpha 5 gene DOID:9001441 Adenomatous Polyps ISO RGD:1345754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15844706 12015583 LOC100991118 defensin alpha 5 gene DOID:9002928 Colonic Neoplasms ISO RGD:1345754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15844706 12015584 TUBG1 tubulin gamma 1 gene DOID:0050453 lissencephaly ISO RGD:732715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:25741868|PMID:28492532|PMID:29671837|PMID:29706637|PMID:31086189 12015584 TUBG1 tubulin gamma 1 gene DOID:0080000 muscular disease ISO RGD:732715 D RGD:9068941 20200609 RGD PMID:15912881|REF_RGD_ID:1626306 12015584 TUBG1 tubulin gamma 1 gene DOID:0080600 COVID-19 ISO RGD:732715 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12015584 TUBG1 tubulin gamma 1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:732715 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23603762 12015584 TUBG1 tubulin gamma 1 gene DOID:0090138 complex cortical dysplasia with other brain malformations 4 ISO RGD:732715 D RGD:7240710 20180130 OMIM 12015584 TUBG1 tubulin gamma 1 gene DOID:0090138 complex cortical dysplasia with other brain malformations 4 ISO RGD:732715 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 4 PMID:23603762|PMID:25741868|PMID:28492532 12015584 TUBG1 tubulin gamma 1 gene DOID:10907 microcephaly ISO RGD:732715 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23603762 12015584 TUBG1 tubulin gamma 1 gene DOID:3429 inclusion body myositis ISO RGD:732715 D RGD:9068941 20200609 RGD PMID:15912881|REF_RGD_ID:1626306 12015584 TUBG1 tubulin gamma 1 gene DOID:630 genetic disease ISO RGD:732715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015602 IQCH IQ motif containing H gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12015602 IQCH IQ motif containing H gene DOID:1909 melanoma ISO RGD:1604310 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12015602 IQCH IQ motif containing H gene DOID:2717 Bloom syndrome ISO RGD:1604310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12015602 IQCH IQ motif containing H gene DOID:630 genetic disease ISO RGD:1604310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015602 IQCH IQ motif containing H gene DOID:9256 colorectal cancer ISO RGD:1604310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12015643 CERK ceramide kinase gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1312799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12015643 CERK ceramide kinase gene DOID:1059 intellectual disability ISO RGD:1312799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12015643 CERK ceramide kinase gene DOID:630 genetic disease ISO RGD:1312799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015643 CERK ceramide kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312799 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12015659 PRPF38B pre-mRNA processing factor 38B gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1605670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12015659 PRPF38B pre-mRNA processing factor 38B gene DOID:12849 autistic disorder ISO RGD:1605670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12015659 PRPF38B pre-mRNA processing factor 38B gene DOID:630 genetic disease ISO RGD:1605670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015659 PRPF38B pre-mRNA processing factor 38B gene DOID:9002189 High Myopia ISO RGD:1605670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12015669 TMEM26 transmembrane protein 26 gene DOID:630 genetic disease ISO RGD:1319527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015697 GIMAP1 GTPase, IMAP family member 1 gene DOID:2843 long QT syndrome ISO RGD:1350070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 12015697 GIMAP1 GTPase, IMAP family member 1 gene DOID:630 genetic disease ISO RGD:1350070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015732 TLR10 toll like receptor 10 gene DOID:2841 asthma susceptibility ISO RGD:1323096 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:18547625|REF_RGD_ID:4889528 12015732 TLR10 toll like receptor 10 gene DOID:630 genetic disease ISO RGD:1323096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015732 TLR10 toll like receptor 10 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1323096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 12015753 HORMAD2 HORMA domain containing 2 gene DOID:630 genetic disease ISO RGD:1348799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015774 CSF3R colony stimulating factor 3 receptor gene DOID:0050590 severe congenital neutropenia ISO RGD:1319271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe congenital neutropenia PMID:24753537|PMID:26324699|PMID:28492532|PMID:32581362 12015774 CSF3R colony stimulating factor 3 receptor gene DOID:0050590 severe congenital neutropenia disease_progression ISO RGD:1319271 D RGD:9068941 20200609 RGD PMID:16985178|REF_RGD_ID:10450485 12015774 CSF3R colony stimulating factor 3 receptor gene DOID:0050908 myelodysplastic syndrome ISO RGD:1319271 D RGD:9068941 20200609 RGD Protein:decreased expression:CD34++ cell: PMID:12670333|REF_RGD_ID:10450504 12015774 CSF3R colony stimulating factor 3 receptor gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:1319271 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.E785K(human) PMID:15644419|REF_RGD_ID:10450471 12015774 CSF3R colony stimulating factor 3 receptor gene DOID:0080187 chronic neutrophilic leukemia ISO RGD:1319271 D RGD:9068941 20200609 RGD PMID:24081659|REF_RGD_ID:10450482 12015774 CSF3R colony stimulating factor 3 receptor gene DOID:0080187 chronic neutrophilic leukemia ISO RGD:1319271 D RGD:9068941 20200609 RGD DNA:mutation:exon:p.T618I(human) PMID:23604229|REF_RGD_ID:10450483 12015774 CSF3R colony stimulating factor 3 receptor gene DOID:0080188 chronic myelomonocytic leukemia disease_progression ISO RGD:1319271 D RGD:9068941 20200609 RGD DNA:mutations:multiples: PMID:23774674|REF_RGD_ID:10450469 12015774 CSF3R colony stimulating factor 3 receptor gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:1319271 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:23604229|PMID:23634996|PMID:23656643|PMID:24081659|PMID:24403076|PMID:24614839|PMID:24854193|PMID:25491280|PMID:25741868|PMID:25932451|PMID:26875968|PMID:27148573|PMID:27581359|PMID:28209919|PMID:28219221|PMID:28492532|PMID:28762112|PMID:30967555|PMID:31697825 12015774 CSF3R colony stimulating factor 3 receptor gene DOID:0090120 hereditary neutrophilia ISO RGD:1319271 D RGD:7240710 20220406 OMIM 12015774 CSF3R colony stimulating factor 3 receptor gene DOID:0090120 hereditary neutrophilia ISO RGD:1319271 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary neutrophilia PMID:12203110|PMID:19620628|PMID:24753537|PMID:25741868|PMID:26324699|PMID:28492532 12015774 CSF3R colony stimulating factor 3 receptor gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12015774 CSF3R colony stimulating factor 3 receptor gene DOID:0112129 severe congenital neutropenia 7 ISO RGD:1319271 D RGD:7240710 20190315 OMIM 12015774 CSF3R colony stimulating factor 3 receptor gene DOID:0112129 severe congenital neutropenia 7 ISO RGD:1319271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to CSF3R deficiency PMID:10449521|PMID:16199547|PMID:17576681|PMID:23604229|PMID:23634996|PMID:23656643|PMID:24033266|PMID:24081659|PMID:24403076|PMID:24614839|PMID:24753537|PMID:24854193|PMID:25491280|PMID:25741868|PMID:25932451|PMID:26324699|PMID:26875968|PMID:27148573|PMID:27581359|PMID:28209919|PMID:28219221|PMID:28492532|PMID:28762112|PMID:30028820|PMID:30348809|PMID:30967555|PMID:31309983|PMID:31321910|PMID:31697825|PMID:32581362|PMID:33108454|PMID:9536098 12015774 CSF3R colony stimulating factor 3 receptor gene DOID:1485 cystic fibrosis ISO RGD:1319271 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion, neutrophil PMID:19293384|REF_RGD_ID:5133738 12015774 CSF3R colony stimulating factor 3 receptor gene DOID:2226 myeloproliferative neoplasm ISO RGD:1319271 D RGD:9068941 20200609 RGD PMID:23897249|REF_RGD_ID:10450501 12015774 CSF3R colony stimulating factor 3 receptor gene DOID:552 pneumonia ISO RGD:1319271 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12015774 CSF3R colony stimulating factor 3 receptor gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1319271 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia PMID:23604229|PMID:23634996|PMID:23656643|PMID:24081659|PMID:24403076|PMID:24614839|PMID:24854193|PMID:25491280|PMID:25741868|PMID:25932451|PMID:26875968|PMID:27148573|PMID:27581359|PMID:28209919|PMID:28219221|PMID:28492532|PMID:28762112|PMID:30967555|PMID:31697825 12015774 CSF3R colony stimulating factor 3 receptor gene DOID:612 primary immunodeficiency disease ISO RGD:1319271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:24753537|PMID:25741868|PMID:26324699|PMID:28492532 12015774 CSF3R colony stimulating factor 3 receptor gene DOID:630 genetic disease ISO RGD:1319271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12015774 CSF3R colony stimulating factor 3 receptor gene DOID:874 bacterial pneumonia disease_progression ISO RGD:1319272 D RGD:9068941 20200609 RGD PMID:17185469|REF_RGD_ID:5133739 12015774 CSF3R colony stimulating factor 3 receptor gene DOID:9001039 Leukocytosis ISO RGD:1319271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19620628 12015774 CSF3R colony stimulating factor 3 receptor gene DOID:9001473 Severe Chronic Neutropenia ISO RGD:1319272 D RGD:9068941 20200609 RGD PMID:9639496|REF_RGD_ID:10450484 12015774 CSF3R colony stimulating factor 3 receptor gene DOID:9119 acute myeloid leukemia ISO RGD:1319271 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:23604229|PMID:23634996|PMID:23656643|PMID:24081659|PMID:24403076|PMID:24614839|PMID:24854193|PMID:25491280|PMID:25741868|PMID:25932451|PMID:26875968|PMID:27148573|PMID:27581359|PMID:28209919|PMID:28219221|PMID:28492532|PMID:28762112|PMID:30967555|PMID:31697825 12015774 CSF3R colony stimulating factor 3 receptor gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1319271 D RGD:9068941 20200609 RGD PMID:24746896|REF_RGD_ID:10450468 12015774 CSF3R colony stimulating factor 3 receptor gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1319271 D RGD:9068941 20200609 RGD associated with Severe Congenital Neutropenia;DNA:nonsense mutation:cds: PMID:9001427|REF_RGD_ID:10450487 12015803 IL16 interleukin 16 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1351288 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs1131445) T>C (human) PMID:27354594|REF_RGD_ID:152177496 12015803 IL16 interleukin 16 gene DOID:10283 prostate cancer ISO RGD:1351288 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs4072111 (human) PMID:18264096|REF_RGD_ID:2293182 12015803 IL16 interleukin 16 gene DOID:1205 allergic disease ISO RGD:1351288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23624239 12015803 IL16 interleukin 16 gene DOID:2717 Bloom syndrome ISO RGD:1351288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12015803 IL16 interleukin 16 gene DOID:2841 asthma ISO RGD:1351288 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-295T>C (human) PMID:16387589|REF_RGD_ID:5024934 12015803 IL16 interleukin 16 gene DOID:2841 asthma ISO RGD:1351288 D RGD:9068941 20200609 RGD associated with Rhinitis;protein:increased expression:respiratory system fluid/secretion PMID:16734115|REF_RGD_ID:5024928 12015803 IL16 interleukin 16 gene DOID:2841 asthma ISO RGD:1557964 D RGD:9068941 20200609 RGD PMID:10585533|REF_RGD_ID:5024937 12015803 IL16 interleukin 16 gene DOID:2841 asthma no_association ISO RGD:1351288 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-295T>C (human) PMID:15784111|REF_RGD_ID:5024935 12015803 IL16 interleukin 16 gene DOID:2841 asthma severity ISO RGD:1351288 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12872394|REF_RGD_ID:5024930 12015803 IL16 interleukin 16 gene DOID:3068 glioblastoma ISO RGD:1583872 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17221335|REF_RGD_ID:5024941 12015803 IL16 interleukin 16 gene DOID:3069 malignant astrocytoma ISO RGD:1351288 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17221335|REF_RGD_ID:5024941 12015803 IL16 interleukin 16 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1351288 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20079227|REF_RGD_ID:5024924 12015803 IL16 interleukin 16 gene DOID:3388 periodontal disease ISO RGD:1583872 D RGD:9068941 20200609 RGD mRNA:increased expression:T cell PMID:20618701|REF_RGD_ID:5024938 12015803 IL16 interleukin 16 gene DOID:4483 rhinitis ISO RGD:1351288 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18254318|REF_RGD_ID:5024932 12015803 IL16 interleukin 16 gene DOID:4483 rhinitis ISO RGD:1557964 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity epithelium, serum PMID:19295235|REF_RGD_ID:5024931 12015803 IL16 interleukin 16 gene DOID:5154 borna disease ISO RGD:1583872 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:14698845|REF_RGD_ID:1354526 12015803 IL16 interleukin 16 gene DOID:630 genetic disease ISO RGD:1351288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015803 IL16 interleukin 16 gene DOID:8544 chronic fatigue syndrome ISO RGD:1351288 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:26615570|REF_RGD_ID:11538286 12015803 IL16 interleukin 16 gene DOID:9000998 Brain Injuries ISO RGD:1583872 D RGD:9068941 20200609 RGD PMID:17983426|REF_RGD_ID:5024939 12015803 IL16 interleukin 16 gene DOID:9001363 Heavy Metal Poisoning, Nervous System ISO RGD:1583872 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:14698845|REF_RGD_ID:1354526 12015803 IL16 interleukin 16 gene DOID:9001472 Nasal Polyps ISO RGD:1351288 D RGD:9068941 20200609 RGD associated with Sinusitis PMID:17431659|REF_RGD_ID:5024933 12015803 IL16 interleukin 16 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18264096 12015803 IL16 interleukin 16 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1583872 D RGD:9068941 20200609 RGD PMID:17641011|REF_RGD_ID:5024940 12015803 IL16 interleukin 16 gene DOID:9003281 Spontaneous Abortions ISO RGD:1351288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12015803 IL16 interleukin 16 gene DOID:9004484 Sepsis ISO RGD:1557964 D RGD:9068941 20200609 RGD associated with Shock, Hemorrhagic;protein:increased expression:lung PMID:19641139|REF_RGD_ID:5024925 12015803 IL16 interleukin 16 gene DOID:9008680 Respiratory Tract Infections ISO RGD:1351288 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14633438|REF_RGD_ID:4145665 12015803 IL16 interleukin 16 gene DOID:9256 colorectal cancer ISO RGD:1351288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12015844 GLI4 GLI family zinc finger 4 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1354466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12015844 GLI4 GLI family zinc finger 4 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1354466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12015844 GLI4 GLI family zinc finger 4 gene DOID:4621 holoprosencephaly ISO RGD:1354466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12015844 GLI4 GLI family zinc finger 4 gene DOID:630 genetic disease ISO RGD:1354466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015849 EFCAB14 EF-hand calcium binding domain 14 gene DOID:630 genetic disease ISO RGD:1605111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015869 GRIPAP1 GRIP1 associated protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12015869 GRIPAP1 GRIP1 associated protein 1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:732724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12015869 GRIPAP1 GRIP1 associated protein 1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:732724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12015869 GRIPAP1 GRIP1 associated protein 1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:732724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12015869 GRIPAP1 GRIP1 associated protein 1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:732724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12015869 GRIPAP1 GRIP1 associated protein 1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:732724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12015869 GRIPAP1 GRIP1 associated protein 1 gene DOID:12849 autistic disorder ISO RGD:732724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12015869 GRIPAP1 GRIP1 associated protein 1 gene DOID:1826 epilepsy ISO RGD:732724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12015869 GRIPAP1 GRIP1 associated protein 1 gene DOID:630 genetic disease ISO RGD:732724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12015869 GRIPAP1 GRIP1 associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12015915 USF1 upstream transcription factor 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:733910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12015915 USF1 upstream transcription factor 1 gene DOID:1287 cardiovascular system disease ISO RGD:733910 D RGD:9068941 20200609 RGD PMID:16699592|REF_RGD_ID:1580805 12015915 USF1 upstream transcription factor 1 gene DOID:13809 familial combined hyperlipidemia ISO RGD:733910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to PMID:14991056|PMID:16076849 12015915 USF1 upstream transcription factor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:733910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12015915 USF1 upstream transcription factor 1 gene DOID:630 genetic disease ISO RGD:733910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12015915 USF1 upstream transcription factor 1 gene DOID:9005097 Hyperlipidemia, Combined, 1 susceptibility ISO RGD:733910 D RGD:7240710 20190502 OMIM 12015915 USF1 upstream transcription factor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12015915 USF1 upstream transcription factor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733910 D RGD:9068941 20200609 RGD DNA:SNP: :rs2073658 (human) PMID:18445538|REF_RGD_ID:2313793 12015915 USF1 upstream transcription factor 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:733910 D RGD:9068941 20200609 RGD DNA:SNPs:intron, 3' utr:multiple (human) PMID:16186412|REF_RGD_ID:2313794 12015915 USF1 upstream transcription factor 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:733910 D RGD:9068941 20200609 RGD DNA:SNP: :rs3737787 (human) PMID:18593823|REF_RGD_ID:2313792 12015933 TSBP1 testis expressed basic protein 1 gene DOID:0050553 JMP syndrome ISO RGD:1346663 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12015964 LOC100987797 maestro heat-like repeat family member 5 gene DOID:630 genetic disease ISO RGD:1602032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12016004 INTS12 integrator complex subunit 12 gene DOID:630 genetic disease ISO RGD:1601748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12016015 NBEAL1 neurobeachin like 1 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1349211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12016015 NBEAL1 neurobeachin like 1 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1349211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12016015 NBEAL1 neurobeachin like 1 gene DOID:1059 intellectual disability ISO RGD:1349211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12016015 NBEAL1 neurobeachin like 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1349211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12016015 NBEAL1 neurobeachin like 1 gene DOID:3393 coronary artery disease ISO RGD:1349211 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 12016015 NBEAL1 neurobeachin like 1 gene DOID:630 genetic disease ISO RGD:1349211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12016015 NBEAL1 neurobeachin like 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1349211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12016015 NBEAL1 neurobeachin like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12016015 NBEAL1 neurobeachin like 1 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1349211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12016078 CDC42EP4 CDC42 effector protein 4 gene DOID:630 genetic disease ISO RGD:1323093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12016083 ADCY2 adenylate cyclase 2 gene DOID:2841 asthma ISO RGD:734219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21912604 12016083 ADCY2 adenylate cyclase 2 gene DOID:3312 bipolar disorder ISO RGD:734219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 12016083 ADCY2 adenylate cyclase 2 gene DOID:630 genetic disease ISO RGD:734219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12016115 LOC100995259 protocadherin alpha-7 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1353324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12016115 LOC100995259 protocadherin alpha-7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353324 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12016115 LOC100995259 protocadherin alpha-7 gene DOID:10283 prostate cancer ISO RGD:1353324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12016115 LOC100995259 protocadherin alpha-7 gene DOID:10487 Hirschsprung's disease ISO RGD:1353324 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 12016115 LOC100995259 protocadherin alpha-7 gene DOID:2228 thrombocytosis ISO RGD:1353324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytosis PMID:25741868 12016115 LOC100995259 protocadherin alpha-7 gene DOID:630 genetic disease ISO RGD:1353324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12016115 LOC100995259 protocadherin alpha-7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12016115 LOC100995259 protocadherin alpha-7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353324 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12016137 ATP5MF ATP synthase membrane subunit f gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12016160 SH3BP2 SH3 domain binding protein 2 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1321583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 12016160 SH3BP2 SH3 domain binding protein 2 gene DOID:1856 cherubism ISO RGD:1321583 D RGD:7240710 20180130 OMIM 12016160 SH3BP2 SH3 domain binding protein 2 gene DOID:1856 cherubism ISO RGD:1321583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:11381256|PMID:12900899|PMID:14577811|PMID:15507112|PMID:16199547|PMID:16786512|PMID:17321449|PMID:17576681|PMID:18596838|PMID:19017279|PMID:19576004|PMID:20002873|PMID:21045962|PMID:21794028|PMID:22153076|PMID:22153077|PMID:22795151|PMID:23298620|PMID:24033266|PMID:24382142|PMID:24608212|PMID:24916406|PMID:25144740|PMID:25741868|PMID:26064398|PMID:27272835|PMID:28492532|PMID:28644570|PMID:30236129|PMID:34573280|PMID:9536098 12016160 SH3BP2 SH3 domain binding protein 2 gene DOID:630 genetic disease ISO RGD:1321583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12016200 CCDC47 coiled-coil domain containing 47 gene DOID:630 genetic disease ISO RGD:1603982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12016200 CCDC47 coiled-coil domain containing 47 gene DOID:9007682 Trichohepatoneurodevelopmental Syndrome ISO RGD:1603982 D RGD:7240710 20190410 OMIM 12016200 CCDC47 coiled-coil domain containing 47 gene DOID:9007682 Trichohepatoneurodevelopmental Syndrome ISO RGD:1603982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichohepatoneurodevelopmental syndrome PMID:25741868|PMID:30401460 12016223 POMC proopiomelanocortin gene DOID:0050117 disease by infectious agent ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6088243|PMID:6254450 12016223 POMC proopiomelanocortin gene DOID:0050425 restless legs syndrome ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18464280 12016223 POMC proopiomelanocortin gene DOID:0050562 West syndrome ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10908253|PMID:11341487|PMID:1324751|PMID:1327015|PMID:1656808|PMID:17287597|PMID:19039989|PMID:1965992|PMID:20078871|PMID:2551692|PMID:2554740|PMID:2853496|PMID:2983143|PMID:6107850|PMID:6143199|PMID:6254450|PMID:6259007|PMID:8381257|PMID:8928979|PMID:8980841 12016223 POMC proopiomelanocortin gene DOID:0050589 inflammatory bowel disease ISO RGD:1331975 D RGD:9068941 20200609 RGD PMID:9145424|REF_RGD_ID:5508804 12016223 POMC proopiomelanocortin gene DOID:0050589 inflammatory bowel disease ISO RGD:1331975 D RGD:9068941 20200609 RGD protein:alternative form:large intestine epithelium: alphaMSH PMID:21741932|REF_RGD_ID:5508805 12016223 POMC proopiomelanocortin gene DOID:0050700 cardiomyopathy ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6143199 12016223 POMC proopiomelanocortin gene DOID:0060001 withdrawal disorder ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15689546|PMID:15714323|PMID:20738730|PMID:225122 12016223 POMC proopiomelanocortin gene DOID:0080784 urinary tract infection ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6254450 12016223 POMC proopiomelanocortin gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1352097 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417|PMID:32435502 12016223 POMC proopiomelanocortin gene DOID:10763 hypertension ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10100081|PMID:10474778|PMID:10513829|PMID:10658937|PMID:11071300|PMID:11071304|PMID:11132610|PMID:11193135|PMID:11518849|PMID:11560123|PMID:11703388|PMID:12872045|PMID:12887135|PMID:1316127|PMID:1321011|PMID:1321309|PMID:1327015|PMID:1330390|PMID:1334993|PMID:15110907|PMID:15132301|PMID:15554453|PMID:16053986|PMID:16243970|PMID:1649024|PMID:16546835|PMID:16620303|PMID:1664305|PMID:17324744|PMID:17954371|PMID:17994356|PMID:18067589|PMID:18487447|PMID:187612|PMID:19153526|PMID:19458537|PMID:20186125|PMID:20659135|PMID:2157753|PMID:216942|PMID:2455169|PMID:2551692|PMID:2821097|PMID:2822310|PMID:2849322|PMID:2992854|PMID:3001556|PMID:3015460|PMID:323586|PMID:4367732|PMID:6088243|PMID:6089027|PMID:6097376|PMID:6100240|PMID:6135010|PMID:6143199|PMID:6254450|PMID:6274577|PMID:6279500|PMID:6283272|PMID:76749|PMID:8136112|PMID:8261660|PMID:8279378|PMID:8713685|PMID:8800598|PMID:9056691|PMID:9535146 12016223 POMC proopiomelanocortin gene DOID:10914 amnestic disorder ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2841920 12016223 POMC proopiomelanocortin gene DOID:11476 osteoporosis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19153526|PMID:3017235|PMID:4367732|PMID:6143199|PMID:6254450 12016223 POMC proopiomelanocortin gene DOID:1156 chondrocalcinosis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8035395 12016223 POMC proopiomelanocortin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2536513|PMID:2831920|PMID:2853496|PMID:8381257|PMID:8928979 12016223 POMC proopiomelanocortin gene DOID:12556 acute kidney tubular necrosis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4358912|PMID:6254450 12016223 POMC proopiomelanocortin gene DOID:12679 nephrocalcinosis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3017235 12016223 POMC proopiomelanocortin gene DOID:12849 autistic disorder ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8570775 12016223 POMC proopiomelanocortin gene DOID:13580 cholestasis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3421781 12016223 POMC proopiomelanocortin gene DOID:13884 sick sinus syndrome ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19039989 12016223 POMC proopiomelanocortin gene DOID:13934 facial paralysis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:4327920 12016223 POMC proopiomelanocortin gene DOID:150 disease of mental health ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18056188 12016223 POMC proopiomelanocortin gene DOID:1529 penile disease ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1358647|PMID:2825910|PMID:3033702 12016223 POMC proopiomelanocortin gene DOID:1596 depressive disorder ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18201294 12016223 POMC proopiomelanocortin gene DOID:1679 cystitis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1267567 12016223 POMC proopiomelanocortin gene DOID:182 calcinosis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6143199 12016223 POMC proopiomelanocortin gene DOID:1826 epilepsy ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20708863 12016223 POMC proopiomelanocortin gene DOID:1909 melanoma ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24412703 12016223 POMC proopiomelanocortin gene DOID:1969 cerebral palsy ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8980841 12016223 POMC proopiomelanocortin gene DOID:2377 multiple sclerosis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2843795|PMID:9664777 12016223 POMC proopiomelanocortin gene DOID:26 pancreas disease ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6143199 12016223 POMC proopiomelanocortin gene DOID:2703 synovitis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8035395 12016223 POMC proopiomelanocortin gene DOID:2843 long QT syndrome ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19931775 12016223 POMC proopiomelanocortin gene DOID:2914 immune system disease ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6107850 12016223 POMC proopiomelanocortin gene DOID:2921 glomerulonephritis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4368615|PMID:6300362 12016223 POMC proopiomelanocortin gene DOID:2945 severe acute respiratory syndrome ISO RGD:1352097 D RGD:9068941 20200609 RGD protein:decreased expression:adenohypophysis (human) PMID:20651845|REF_RGD_ID:28711759 12016223 POMC proopiomelanocortin gene DOID:2987 familial Mediterranean fever ISO RGD:1352097 D RGD:9068941 20200609 RGD protein: decreassed expression: plasma: ACTH PMID:21428190|REF_RGD_ID:5508806 12016223 POMC proopiomelanocortin gene DOID:3021 acute kidney failure ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17216604 12016223 POMC proopiomelanocortin gene DOID:3312 bipolar disorder ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2843795|PMID:9664777 12016223 POMC proopiomelanocortin gene DOID:3946 pituitary-dependent Cushing's disease ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16809932 12016223 POMC proopiomelanocortin gene DOID:3952 adrenal cortex disease ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11370731 12016223 POMC proopiomelanocortin gene DOID:437 myasthenia gravis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:4323972 12016223 POMC proopiomelanocortin gene DOID:4450 renal cell carcinoma ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2844640 12016223 POMC proopiomelanocortin gene DOID:4500 hypokalemia ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10100081|PMID:1327015|PMID:323586|PMID:4323972|PMID:6254450|PMID:6258369|PMID:6279499|PMID:8035395|PMID:8562174 12016223 POMC proopiomelanocortin gene DOID:535 sleep disorder ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18464280 12016223 POMC proopiomelanocortin gene DOID:552 pneumonia ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6254450 12016223 POMC proopiomelanocortin gene DOID:557 kidney disease ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6143199 12016223 POMC proopiomelanocortin gene DOID:5614 eye disease ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4340068 12016223 POMC proopiomelanocortin gene DOID:576 proteinuria ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4368615 12016223 POMC proopiomelanocortin gene DOID:5805 subvalvular aortic stenosis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1965992 12016223 POMC proopiomelanocortin gene DOID:6000 congestive heart failure ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3026683|PMID:8277081 12016223 POMC proopiomelanocortin gene DOID:630 genetic disease ISO RGD:1352097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356970 12016223 POMC proopiomelanocortin gene DOID:77 gastrointestinal system disease ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6254450 12016223 POMC proopiomelanocortin gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4371370 12016223 POMC proopiomelanocortin gene DOID:8398 osteoarthritis ISO RGD:1352097 D RGD:9068941 20200609 RGD PMID:21378032|REF_RGD_ID:5508809 12016223 POMC proopiomelanocortin gene DOID:9000197 Edema ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1459535|PMID:4327920|PMID:8562174 12016223 POMC proopiomelanocortin gene DOID:9000363 Hematuria ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1267567|PMID:1324751 12016223 POMC proopiomelanocortin gene DOID:9000641 Pain ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20084599|PMID:4345333|PMID:6094376 12016223 POMC proopiomelanocortin gene DOID:9000790 Postoperative Complications ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4371370 12016223 POMC proopiomelanocortin gene DOID:9000972 Fever ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 12016223 POMC proopiomelanocortin gene DOID:9001048 Nociceptive Pain ISO RGD:1331975 D RGD:9068941 20200609 RGD PMID:21380811|REF_RGD_ID:5508807 12016223 POMC proopiomelanocortin gene DOID:9001087 Opsoclonus-Myoclonus Syndrome ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1318289 12016223 POMC proopiomelanocortin gene DOID:9001173 ACTH Syndrome, Ectopic ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1459535|PMID:2844640|PMID:4367732|PMID:8562174 12016223 POMC proopiomelanocortin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16508911|PMID:16511523 12016223 POMC proopiomelanocortin gene DOID:9001579 Neurogenic Inflammation ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19333140 12016223 POMC proopiomelanocortin gene DOID:9001581 Constipation ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3421781 12016223 POMC proopiomelanocortin gene DOID:9001738 Hypercalciuria ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1324751|PMID:3017235 12016223 POMC proopiomelanocortin gene DOID:9001981 Weight Loss ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11193135|PMID:1459535 12016223 POMC proopiomelanocortin gene DOID:9002315 Kidney Calculi ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1324751 12016223 POMC proopiomelanocortin gene DOID:9002669 Hypoxia ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11311734|PMID:24412703 12016223 POMC proopiomelanocortin gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6254450 12016223 POMC proopiomelanocortin gene DOID:9002801 Recurrence ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20078871 12016223 POMC proopiomelanocortin gene DOID:9002916 Hyperphagia ISO RGD:1352097 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:15189116|REF_RGD_ID:1357925 12016223 POMC proopiomelanocortin gene DOID:9003049 Femur Head Necrosis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4326745 12016223 POMC proopiomelanocortin gene DOID:9003122 Rhabdomyoma ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10908253 12016223 POMC proopiomelanocortin gene DOID:9003194 Eye Pain ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4327920 12016223 POMC proopiomelanocortin gene DOID:9003805 Catalepsy ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:2999739|PMID:6329457 12016223 POMC proopiomelanocortin gene DOID:9003936 Cardiomegaly ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19039989|PMID:1965992|PMID:2821097|PMID:6088243|PMID:8279378|PMID:8381257 12016223 POMC proopiomelanocortin gene DOID:9004507 Hirsutism ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1324751 12016223 POMC proopiomelanocortin gene DOID:9004590 Acute Liver Failure ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15313186 12016223 POMC proopiomelanocortin gene DOID:9004657 Weight Gain ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4367732|PMID:6143199 12016223 POMC proopiomelanocortin gene DOID:9004751 Nausea ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11141589 12016223 POMC proopiomelanocortin gene DOID:9005103 Proopiomelanocortin Deficiency ISO RGD:1352097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Obesity, adrenal insufficiency, and red hair due to POMC deficiency | ClinVar Annotator: match by term: Proopiomelanocortin deficiency PMID:12165561|PMID:14557433|PMID:16459314|PMID:18091355|PMID:18697863|PMID:18765507|PMID:19221669|PMID:20349035|PMID:23293326|PMID:23649472|PMID:25741868|PMID:27906547|PMID:28492532|PMID:9620771 12016223 POMC proopiomelanocortin gene DOID:9005103 Proopiomelanocortin Deficiency susceptibility ISO RGD:1352097 D RGD:7240710 20230517 OMIM 12016223 POMC proopiomelanocortin gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:6088243 12016223 POMC proopiomelanocortin gene DOID:9005158 Cushing Syndrome ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19153526|PMID:6088243 12016223 POMC proopiomelanocortin gene DOID:9005253 Hypernatremia ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10100081|PMID:6279499 12016223 POMC proopiomelanocortin gene DOID:9005372 Inflammation ISO RGD:1331975 D RGD:9068941 20200609 RGD Protein:::alphaMSH[11-13] PMID:2550304|REF_RGD_ID:5508803 12016223 POMC proopiomelanocortin gene DOID:9005372 Inflammation ISO RGD:1331975 D RGD:9068941 20200609 RGD protein: increased expression PMID:21378282|REF_RGD_ID:5508808 12016223 POMC proopiomelanocortin gene DOID:9005372 Inflammation ISO RGD:1352097 D RGD:9068941 20200609 RGD protein: increased expression PMID:21378282|REF_RGD_ID:5508808 12016223 POMC proopiomelanocortin gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11750770|PMID:16520439|PMID:18201294|PMID:19279569 12016223 POMC proopiomelanocortin gene DOID:9005749 Necrosis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7608651 12016223 POMC proopiomelanocortin gene DOID:9006024 Hypotension ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1676337|PMID:2536002|PMID:2566129|PMID:2636709 12016223 POMC proopiomelanocortin gene DOID:9006570 Sacroiliitis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19533139 12016223 POMC proopiomelanocortin gene DOID:9007001 Bradycardia ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1676337|PMID:19039989|PMID:2636709 12016223 POMC proopiomelanocortin gene DOID:9007102 Myocardial Ischemia ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10908253 12016223 POMC proopiomelanocortin gene DOID:9007590 Gouty Arthritis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8035395 12016223 POMC proopiomelanocortin gene DOID:9007633 Body Weight ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1316127 12016223 POMC proopiomelanocortin gene DOID:9007730 Burns ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2968671 12016223 POMC proopiomelanocortin gene DOID:9008217 Hemorrhage ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1267567|PMID:3014908 12016223 POMC proopiomelanocortin gene DOID:9008760 Oliguria ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6254450 12016223 POMC proopiomelanocortin gene DOID:9009050 Hypocalcemia ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3017235 12016223 POMC proopiomelanocortin gene DOID:9351 diabetes mellitus ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19153526 12016223 POMC proopiomelanocortin gene DOID:9409 diabetes insipidus ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:6258694 12016223 POMC proopiomelanocortin gene DOID:9452 fatty liver disease ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:167377 12016223 POMC proopiomelanocortin gene DOID:9970 obesity ISO RGD:1352097 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, early-onset, susceptibility to PMID:10193875|PMID:11941477|PMID:12165561|PMID:14557433|PMID:16459314|PMID:18091355|PMID:18697863|PMID:19221669|PMID:20349035|PMID:23293326|PMID:25741868|PMID:28492532|PMID:29970488|PMID:8302318|PMID:9620771|PMID:9768693 12016223 POMC proopiomelanocortin gene DOID:9970 obesity ISO RGD:1352097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, early-onset, susceptibility to PMID:10193875|PMID:11941477|PMID:12165561|PMID:14557433|PMID:16459314|PMID:18091355|PMID:18697863|PMID:19221669|PMID:20349035|PMID:23293326|PMID:23649472|PMID:25741868|PMID:27906547|PMID:28492532|PMID:29970488|PMID:8302318|PMID:9620771|PMID:9768693 12016223 POMC proopiomelanocortin gene DOID:9970 obesity susceptibility ISO RGD:1352097 D RGD:7240710 20230517 OMIM 12016223 POMC proopiomelanocortin gene DOID:9976 heroin dependence ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18201294 12016230 TMEM165 transmembrane protein 165 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1601750 D RGD:7240710 20180130 OMIM 12016230 TMEM165 transmembrane protein 165 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1601750 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:17576681|PMID:22521416|PMID:22683087|PMID:25741868|PMID:26657937|PMID:28492532|PMID:9536098 12016230 TMEM165 transmembrane protein 165 gene DOID:10487 Hirschsprung's disease ISO RGD:1601750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 12016230 TMEM165 transmembrane protein 165 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1601750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:25741868|PMID:28492532 12016230 TMEM165 transmembrane protein 165 gene DOID:630 genetic disease ISO RGD:1601750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12016230 TMEM165 transmembrane protein 165 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1601750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12016240 ARHGEF26 Rho guanine nucleotide exchange factor 26 gene DOID:630 genetic disease ISO RGD:1603402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1345118 D RGD:9068941 20200609 RGD mRNA,protein:increased expression, increased activity:fibroblast PMID:23260200|REF_RGD_ID:10413908 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:0050700 cardiomyopathy ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561897 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:0080855 Parkinsonism ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17640816 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:0081292 traumatic brain injury ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829224|PMID:28642177 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:10534 stomach cancer treatment ISO RGD:1345118 D RGD:9068941 20210611 RGD human cells in a mouse model PMID:29408335|REF_RGD_ID:127284846 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:10534 stomach cancer treatment ISO RGD:1345118 D RGD:9068941 20210625 RGD human cells in mouse model PMID:32106377|REF_RGD_ID:127284886 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:1059 intellectual disability ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:22051244|REF_RGD_ID:5510011 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1551988 D RGD:9068941 20200609 RGD protein:increased activity:brain: PMID:21616968|REF_RGD_ID:10413888 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1345118 D RGD:9068941 20200609 RGD DNA:haplotypes: : PMID:17290104|REF_RGD_ID:10413885 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1345118 D RGD:9068941 20200609 RGD DNA:haplotypes:cds:rs1136410,rs1805404 (human) PMID:20486200|REF_RGD_ID:10413887 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:1074 kidney failure ISO RGD:2053 D RGD:9068941 20200609 RGD PMID:19833176|REF_RGD_ID:10413912 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:10952 nephritis ISO RGD:1345118 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;DNA:SNPs:promoter, exon:-1963A>G, 28077G>A (human) PMID:16461442|REF_RGD_ID:1601085 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:19741160|REF_RGD_ID:5683903 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:11396 pulmonary edema ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11818323 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:127 leiomyoma treatment ISO RGD:2053 D RGD:9068941 20200609 RGD PMID:21896544|REF_RGD_ID:10413890 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:12858 Huntington's disease ISO RGD:1345118 D RGD:9068941 20200609 RGD protein:increased expression:neuron,astrocyte: PMID:15668790|REF_RGD_ID:10413886 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:13088 periventricular leukomalacia ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:21596035|REF_RGD_ID:5683904 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:14115 toxic shock syndrome ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:12445868|REF_RGD_ID:10414070 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:14330 Parkinson's disease no_association ISO RGD:1345118 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:21767974|REF_RGD_ID:5510021 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1345118 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, exon:g.-410C>T, g.845_846dupAC (human) PMID:17362997|REF_RGD_ID:5510024 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1345118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:1790 malignant mesothelioma ISO RGD:1345118 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:21543585 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:1909 melanoma ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28759004 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:1936 atherosclerosis ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18093987|PMID:19124646 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:1936 atherosclerosis ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:18093987|REF_RGD_ID:5683916 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:2237 hepatitis ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561897 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:224 transient cerebral ischemia ISO RGD:2053 D RGD:9068941 20200609 RGD PMID:19840223|REF_RGD_ID:2325713 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2053 D RGD:9068941 20200609 RGD PMID:19840223|REF_RGD_ID:2325713 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:2316 brain ischemia ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17640816 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:2355 anemia ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561897 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:2723 dermatitis ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561897 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:2841 asthma ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18261157 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:2841 asthma ISO RGD:1345118 D RGD:9068941 20200609 RGD protein:increased activation:lung, blood, mononuclear cell PMID:26205779|REF_RGD_ID:11073727 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:2841 asthma ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:12594058|REF_RGD_ID:5683910 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:2841 asthma treatment ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:26205779|REF_RGD_ID:11073727 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:2921 glomerulonephritis severity ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:19454727|REF_RGD_ID:5684011 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:3021 acute kidney failure ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:21884784|REF_RGD_ID:5510015 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:21311064|REF_RGD_ID:5683909 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:2053 D RGD:9068941 20200609 RGD PMID:25882840|REF_RGD_ID:13792686 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:23801245|REF_RGD_ID:11073732 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2053 D RGD:9068941 20200609 RGD PMID:23143152|REF_RGD_ID:10054501 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27704718 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:23260200|REF_RGD_ID:10413908 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:417 autoimmune disease ISO RGD:1345118 D RGD:9068941 20200609 RGD coeliac disease PMID:16026592|REF_RGD_ID:1601087 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:4195 hyperglycemia susceptibility ISO RGD:1551988 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:10077636|REF_RGD_ID:1300264 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:4455 hereditary renal cell carcinoma ISO RGD:1345118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary renal cell carcinoma 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:4989 pancreatitis ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16127429 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:5082 liver cirrhosis ISO RGD:1345118 D RGD:9068941 20200609 RGD associated with Hepatitis B;mRNA:decreased expression:blood, mononuclear cell PMID:25755481|REF_RGD_ID:11073733 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:5154 borna disease ISO RGD:2053 D RGD:9068941 20200609 RGD mRNA,protein:increased expression,increased activity:neuron, glial cell: PMID:18057239|REF_RGD_ID:2316738 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:5199 ureteral obstruction treatment ISO RGD:2053 D RGD:9068941 20200609 RGD PMID:29781318|REF_RGD_ID:13782341 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:5517 stomach carcinoma susceptibility ISO RGD:1345118 D RGD:9068941 20200609 RGD DNA:snp:cds:p.V762A rs1136410 (human) PMID:18716896|REF_RGD_ID:5683907 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:552 pneumonia ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561897 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:557 kidney disease ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561897|PMID:21884784 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:5844 myocardial infarction ISO RGD:1551988 D RGD:9068941 20200609 RGD protein:altered processing:left ventricle (mouse) PMID:21282286|REF_RGD_ID:5684012 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:6000 congestive heart failure treatment ISO RGD:2053 D RGD:9068941 20200609 RGD associated with Hypertension PMID:19443425|REF_RGD_ID:11074236 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:630 genetic disease ISO RGD:1345118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18695907 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30354818 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:824 periodontitis ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:14630900|REF_RGD_ID:10413909 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:848 arthritis ISO RGD:1345118 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;DNA:SNPs:promoter, exon:-1963A>G, p.V762A (40329T>C) (human) PMID:16461442|REF_RGD_ID:1601085 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1345118 D RGD:9068941 20200609 RGD protein:increased expression:intestinal mucosa PMID:21399558|REF_RGD_ID:10413911 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:8677 perinatal necrotizing enterocolitis severity ISO RGD:2053 D RGD:9068941 20200609 RGD protein:increased expression:intestinal mucosa PMID:21399558|REF_RGD_ID:10413911 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15696051 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2053 D RGD:9068941 20200609 RGD PMID:21748659|REF_RGD_ID:10053608 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18093987|PMID:19124646 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9000310 Lung Injury ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16127429 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9000784 Fibrosis ISO RGD:1551988 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:21613422|REF_RGD_ID:5683902 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9000927 Alveolar Bone Loss ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:14630900|REF_RGD_ID:10413909 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9000998 Brain Injuries ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17640816 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1551988 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:20621183|REF_RGD_ID:11073737 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342424 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9002457 Experimental Arthritis severity ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:16356201|REF_RGD_ID:5684009 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9002514 Neointima ISO RGD:2053 D RGD:9068941 20200609 RGD PMID:15044192|REF_RGD_ID:10413907 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9003358 Kyphosis ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561897 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15696051|PMID:16798486 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:9390645|REF_RGD_ID:5510018 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2053 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:21850691|REF_RGD_ID:5510020 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9004610 Acute Lung Injury ISO RGD:1551988 D RGD:9068941 20200609 RGD associated with Pancreatitis, Experimental, Acute PMID:16127429|REF_RGD_ID:11075069 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9004922 Spinal Cord Ischemia ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15696051 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:2053 D RGD:9068941 20200609 RGD PMID:23404339|REF_RGD_ID:10053670 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9005246 Paralysis ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15696051 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9005372 Inflammation ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18261157 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:18657544|REF_RGD_ID:2312287 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:2053 D RGD:9068941 20200609 RGD protein:increased expression:blood vessel: PMID:15044192|REF_RGD_ID:10413907 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:16127429|REF_RGD_ID:11075069 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1345118 D RGD:9068941 20210604 CTD CTD Direct Evidence: therapeutic PMID:33771647 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:23598272|PMID:9670921|REF_RGD_ID:11073735|REF_RGD_ID:5683917 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27694308 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9008550 Vitamin A Deficiency ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18676402 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20941507 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:17182544|REF_RGD_ID:11074797 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345118 D RGD:9068941 20200609 RGD PMID:15895395|REF_RGD_ID:11075068 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9470 bacterial meningitis susceptibility ISO RGD:1345118 D RGD:9068941 20200609 RGD DNA:snp:cds:p.V762A rs1136410 (human) PMID:21651918|REF_RGD_ID:5683901 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9538 multiple myeloma ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21917757 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9743 diabetic neuropathy ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:17976390|PMID:21978940|REF_RGD_ID:5510012|REF_RGD_ID:5683915 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:987 alopecia ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561897 12016268 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9970 obesity ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561897 12016295 TMEM11 transmembrane protein 11 gene DOID:630 genetic disease ISO RGD:1320357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12016307 CPN2 carboxypeptidase N subunit 2 gene DOID:630 genetic disease ISO RGD:1346122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12016321 LOC100975124 multiple epidermal growth factor-like domains protein 6 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:736662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12016321 LOC100975124 multiple epidermal growth factor-like domains protein 6 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:736662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12016321 LOC100975124 multiple epidermal growth factor-like domains protein 6 gene DOID:0110994 Joubert syndrome 25 ISO RGD:736662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12016321 LOC100975124 multiple epidermal growth factor-like domains protein 6 gene DOID:0111934 immunodeficiency 38 ISO RGD:736662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12016321 LOC100975124 multiple epidermal growth factor-like domains protein 6 gene DOID:0111935 immunodeficiency 16 ISO RGD:736662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12016321 LOC100975124 multiple epidermal growth factor-like domains protein 6 gene DOID:630 genetic disease ISO RGD:736662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12016321 LOC100975124 multiple epidermal growth factor-like domains protein 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12016321 LOC100975124 multiple epidermal growth factor-like domains protein 6 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:736662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12016366 ARHGEF5 Rho guanine nucleotide exchange factor 5 gene DOID:630 genetic disease ISO RGD:735723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12016366 ARHGEF5 Rho guanine nucleotide exchange factor 5 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:735723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29054765 12016366 ARHGEF5 Rho guanine nucleotide exchange factor 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12016366 ARHGEF5 Rho guanine nucleotide exchange factor 5 gene DOID:9005172 Lung Neoplasms ISO RGD:735723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29054765 12016389 TFDP2 transcription factor Dp-2 gene DOID:0080600 COVID-19 ISO RGD:1314075 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12016389 TFDP2 transcription factor Dp-2 gene DOID:1790 malignant mesothelioma ISO RGD:1314075 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 12016389 TFDP2 transcription factor Dp-2 gene DOID:630 genetic disease ISO RGD:1314075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12016420 LIME1 Lck interacting transmembrane adaptor 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12016420 LIME1 Lck interacting transmembrane adaptor 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1603039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12016420 LIME1 Lck interacting transmembrane adaptor 1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1603039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12016420 LIME1 Lck interacting transmembrane adaptor 1 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1603039 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12016420 LIME1 Lck interacting transmembrane adaptor 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12016420 LIME1 Lck interacting transmembrane adaptor 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12016420 LIME1 Lck interacting transmembrane adaptor 1 gene DOID:630 genetic disease ISO RGD:1603039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12016442 PDS5A PDS5 cohesin associated factor A gene DOID:11725 Cornelia de Lange syndrome ISO RGD:1316082 D RGD:9068941 20220825 MouseDO OMIM:122470 | OMIM:300590 | OMIM:300882 | OMIM:610759 | OMIM:614701 12016442 PDS5A PDS5 cohesin associated factor A gene DOID:630 genetic disease ISO RGD:1604045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12016442 PDS5A PDS5 cohesin associated factor A gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1604045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 12016442 PDS5A PDS5 cohesin associated factor A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604045 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12016442 PDS5A PDS5 cohesin associated factor A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12016479 PLXNB2 plexin B2 gene DOID:0060041 autism spectrum disorder ISO RGD:1313554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 12016479 PLXNB2 plexin B2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1313554 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12016479 PLXNB2 plexin B2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1313554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12016479 PLXNB2 plexin B2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1313554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 12016479 PLXNB2 plexin B2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1313554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 12016479 PLXNB2 plexin B2 gene DOID:1059 intellectual disability ISO RGD:1313554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12016479 PLXNB2 plexin B2 gene DOID:630 genetic disease ISO RGD:1313554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12016534 PPAN peter pan homolog gene DOID:3910 lung adenocarcinoma ISO RGD:1314882 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12016534 PPAN peter pan homolog gene DOID:630 genetic disease ISO RGD:1314882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12016534 PPAN peter pan homolog gene DOID:9004136 Cataplexy and Narcolepsy ISO RGD:1314882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataplexy and narcolepsy PMID:25669430 12016534 PPAN peter pan homolog gene DOID:9006205 Animal Disease Models ISO RGD:1314882 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12016551 TNRC6C trinucleotide repeat containing adaptor 6C gene DOID:0080600 COVID-19 ISO RGD:1349772 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12016551 TNRC6C trinucleotide repeat containing adaptor 6C gene DOID:1059 intellectual disability ISO RGD:1349772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12016551 TNRC6C trinucleotide repeat containing adaptor 6C gene DOID:13777 epidermodysplasia verruciformis ISO RGD:1349772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis PMID:28492532 12016551 TNRC6C trinucleotide repeat containing adaptor 6C gene DOID:630 genetic disease ISO RGD:1349772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12016592 CDH3 cadherin 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1353368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12016592 CDH3 cadherin 3 gene DOID:0080764 hereditary diffuse gastric cancer ISO RGD:1353368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary diffuse gastric cancer PMID:28492532 12016592 CDH3 cadherin 3 gene DOID:0110698 hypotrichosis 1 ISO RGD:1353368 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypotrichosis simplex 12016592 CDH3 cadherin 3 gene DOID:0110711 congenital hypotrichosis with juvenile macular dystrophy ISO RGD:1353368 D RGD:7240710 20180130 OMIM 12016592 CDH3 cadherin 3 gene DOID:0110711 congenital hypotrichosis with juvenile macular dystrophy ISO RGD:1353368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital hypotrichosis with juvenile macular dystrophy | ClinVar Annotator: match by term: Hypotrichosis with juvenile macular dystrophy PMID:10420194|PMID:11544476|PMID:12445216|PMID:14708629|PMID:15805154|PMID:16199547|PMID:17342797|PMID:25741868|PMID:27386845|PMID:28041643|PMID:28492532|PMID:29620724|PMID:30710256|PMID:31696509|PMID:32581362|PMID:34301208 12016592 CDH3 cadherin 3 gene DOID:0111649 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome ISO RGD:1353368 D RGD:7240710 20180130 OMIM 12016592 CDH3 cadherin 3 gene DOID:0111649 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome ISO RGD:1353368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EEM syndrome PMID:10420194|PMID:13372143|PMID:14708629|PMID:15805154|PMID:17576681|PMID:25741868|PMID:27386845|PMID:28041643|PMID:28492532|PMID:29620724|PMID:32581362|PMID:9536098 12016592 CDH3 cadherin 3 gene DOID:10283 prostate cancer ISO RGD:1353368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 12016592 CDH3 cadherin 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1353368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:26306921|PMID:28492532|PMID:30718709 12016592 CDH3 cadherin 3 gene DOID:4448 macular degeneration ISO RGD:1353368 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:10420194|PMID:14708629|PMID:15805154|PMID:25741868|PMID:27386845|PMID:28041643|PMID:28492532|PMID:29620724|PMID:32581362 12016592 CDH3 cadherin 3 gene DOID:5119 ovarian cyst ISO RGD:1353368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12016592 CDH3 cadherin 3 gene DOID:630 genetic disease ISO RGD:1353368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12016592 CDH3 cadherin 3 gene DOID:8501 fundus dystrophy ISO RGD:1353368 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868 12016592 CDH3 cadherin 3 gene DOID:8577 ulcerative colitis ISO RGD:1353368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19915572 12016592 CDH3 cadherin 3 gene DOID:9007653 Multiple Abnormalities susceptibility ISO RGD:1353368 D RGD:9068941 20200609 RGD EEM syndrome, OMIM:225280;DNA:deletion, missense mutation:c.829delG, p.N332I PMID:15805154|REF_RGD_ID:1600801 12016612 TRIM42 tripartite motif containing 42 gene DOID:630 genetic disease ISO RGD:1353293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12016627 SEMA3C semaphorin 3C gene DOID:1826 epilepsy ISO RGD:1319638 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 12016627 SEMA3C semaphorin 3C gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12016627 SEMA3C semaphorin 3C gene DOID:630 genetic disease ISO RGD:1319638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12016627 SEMA3C semaphorin 3C gene DOID:7148 rheumatoid arthritis ISO RGD:1319638 D RGD:9068941 20200609 RGD protein:increased expression:knee, synovium (human) PMID:15077297|REF_RGD_ID:1580084 12016627 SEMA3C semaphorin 3C gene DOID:9002189 High Myopia ISO RGD:1319638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12016627 SEMA3C semaphorin 3C gene DOID:9003752 Persistent Truncus Arteriosus ISO RGD:1319638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15548583 12016652 SGSM1 small G protein signaling modulator 1 gene DOID:630 genetic disease ISO RGD:1317805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12016695 NME4 NME/NM23 nucleoside diphosphate kinase 4 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1318408 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12016695 NME4 NME/NM23 nucleoside diphosphate kinase 4 gene DOID:1826 epilepsy ISO RGD:1318408 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 12016695 NME4 NME/NM23 nucleoside diphosphate kinase 4 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1318408 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12016695 NME4 NME/NM23 nucleoside diphosphate kinase 4 gene DOID:630 genetic disease ISO RGD:1318408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12016722 CD59 CD59 molecule (CD59 blood group) gene DOID:0080199 colorectal carcinoma ISO RGD:2311 D RGD:9068941 20200609 RGD PMID:12909127|REF_RGD_ID:1600485 12016722 CD59 CD59 molecule (CD59 blood group) gene DOID:0080199 colorectal carcinoma ISO RGD:736600 D RGD:9068941 20200609 RGD PMID:12909127|REF_RGD_ID:1600485 12016722 CD59 CD59 molecule (CD59 blood group) gene DOID:0080998 acute necrotizing pancreatitis severity ISO RGD:2311 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas, acinar cell PMID:16425382|REF_RGD_ID:1600479 12016722 CD59 CD59 molecule (CD59 blood group) gene DOID:1059 intellectual disability ISO RGD:736600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12016722 CD59 CD59 molecule (CD59 blood group) gene DOID:1380 endometrial cancer ISO RGD:736600 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:10637067|REF_RGD_ID:2293548 12016722 CD59 CD59 molecule (CD59 blood group) gene DOID:1407 anterior uveitis ISO RGD:2311 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:eye PMID:16751365|REF_RGD_ID:1600478 12016722 CD59 CD59 molecule (CD59 blood group) gene DOID:2394 ovarian cancer ISO RGD:736600 D RGD:9068941 20200609 RGD PMID:15726105|PMID:19254481|REF_RGD_ID:2306066|REF_RGD_ID:2326189 12016722 CD59 CD59 molecule (CD59 blood group) gene DOID:2527 nephrosis ISO RGD:2311 D RGD:9068941 20200609 RGD PMID:15843577|REF_RGD_ID:1600482 12016722 CD59 CD59 molecule (CD59 blood group) gene DOID:2921 glomerulonephritis ISO RGD:2311 D RGD:9068941 20200609 RGD PMID:7523753|REF_RGD_ID:1600500 12016722 CD59 CD59 molecule (CD59 blood group) gene DOID:3459 breast carcinoma disease_progression ISO RGD:736600 D RGD:9068941 20200609 RGD PMID:12898600|REF_RGD_ID:2326192 12016722 CD59 CD59 molecule (CD59 blood group) gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:736600 D RGD:9068941 20220303 RGD protein:increased expression:blood (human) PMID:32663515|REF_RGD_ID:151660329 12016722 CD59 CD59 molecule (CD59 blood group) gene DOID:557 kidney disease ISO RGD:736600 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31618666 12016722 CD59 CD59 molecule (CD59 blood group) gene DOID:5844 myocardial infarction ISO RGD:2311 D RGD:9068941 20200609 RGD protein:decreased expression:myocardium PMID:7515561|REF_RGD_ID:1600501 12016722 CD59 CD59 molecule (CD59 blood group) gene DOID:630 genetic disease ISO RGD:736600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12016722 CD59 CD59 molecule (CD59 blood group) gene DOID:8869 neuromyelitis optica severity ISO RGD:2311 D RGD:9068941 20200609 RGD PMID:28212662|REF_RGD_ID:13792592 12016722 CD59 CD59 molecule (CD59 blood group) gene DOID:8947 diabetic retinopathy ISO RGD:2311 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:12453906|REF_RGD_ID:1600487 12016722 CD59 CD59 molecule (CD59 blood group) gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:2311 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:12483994|REF_RGD_ID:1600486 12016722 CD59 CD59 molecule (CD59 blood group) gene DOID:9001643 CD59 Deficiency ISO RGD:736600 D RGD:7240710 20180130 OMIM 12016722 CD59 CD59 molecule (CD59 blood group) gene DOID:9001643 CD59 Deficiency ISO RGD:736600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy PMID:1382994|PMID:23149847|PMID:24382084|PMID:25741868 12016722 CD59 CD59 molecule (CD59 blood group) gene DOID:9002457 Experimental Arthritis ISO RGD:2311 D RGD:9068941 20200609 RGD PMID:14519760|REF_RGD_ID:1600483 12016722 CD59 CD59 molecule (CD59 blood group) gene DOID:9004001 Facial Nerve Injuries ISO RGD:2311 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:facial VII nucleus PMID:9846834|REF_RGD_ID:1600495 12016722 CD59 CD59 molecule (CD59 blood group) gene DOID:9004009 Reperfusion Injury ISO RGD:2311 D RGD:9068941 20200609 RGD PMID:10530491|REF_RGD_ID:1600493 12016722 CD59 CD59 molecule (CD59 blood group) gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:2311 D RGD:9068941 20200609 RGD protein:increased expression:Schwann cell (rat) PMID:10450801|REF_RGD_ID:1600494 12016722 CD59 CD59 molecule (CD59 blood group) gene DOID:9007472 Skin Manifestations ISO RGD:736600 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31618666 12016738 DHX35 DEAH-box helicase 35 gene DOID:2234 focal epilepsy ISO RGD:1322480 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12016738 DHX35 DEAH-box helicase 35 gene DOID:630 genetic disease ISO RGD:1322480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12016767 GRB14 growth factor receptor bound protein 14 gene DOID:630 genetic disease ISO RGD:732013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12016767 GRB14 growth factor receptor bound protein 14 gene DOID:9004657 Weight Gain ISO RGD:732013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12016767 GRB14 growth factor receptor bound protein 14 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21874001 12016786 GPX2 glutathione peroxidase 2 gene DOID:0050860 colorectal adenoma ISO RGD:1345750 D RGD:9068941 20220407 RGD mRNA:increased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 12016786 GPX2 glutathione peroxidase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1345750 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12016786 GPX2 glutathione peroxidase 2 gene DOID:0080199 colorectal carcinoma ISO RGD:1345750 D RGD:9068941 20220407 RGD mRNA:increased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 12016786 GPX2 glutathione peroxidase 2 gene DOID:219 colon cancer treatment ISO RGD:735351 D RGD:9068941 20220624 RGD associated with Inflammation PMID:28045589|REF_RGD_ID:152995480 12016786 GPX2 glutathione peroxidase 2 gene DOID:630 genetic disease ISO RGD:1345750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12016786 GPX2 glutathione peroxidase 2 gene DOID:8577 ulcerative colitis disease_progression ISO RGD:1345750 D RGD:9068941 20220630 RGD protein:increased expression:large intestine (human) PMID:18479189|REF_RGD_ID:152998902 12016786 GPX2 glutathione peroxidase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23867582 12016786 GPX2 glutathione peroxidase 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1345750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12016786 GPX2 glutathione peroxidase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1345750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18056462 12016786 GPX2 glutathione peroxidase 2 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1345750 D RGD:9068941 20220630 RGD protein:increased expression:large intestine (human) PMID:18479189|REF_RGD_ID:152998902 12016798 LRRN4 leucine rich repeat neuronal 4 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1313178 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12016798 LRRN4 leucine rich repeat neuronal 4 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1313178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12016798 LRRN4 leucine rich repeat neuronal 4 gene DOID:630 genetic disease ISO RGD:1313178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12016821 B3GAT3 beta-1,3-glucuronyltransferase 3 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1323698 D RGD:7240710 20180307 OMIM 12016821 B3GAT3 beta-1,3-glucuronyltransferase 3 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1323698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type | ClinVar Annotator: match by term: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS | ClinVar Annotator: match by term: Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects PMID:16199547|PMID:17576681|PMID:20335603|PMID:21763480|PMID:24668659|PMID:25326635|PMID:25741868|PMID:25893793|PMID:26633542|PMID:27271787|PMID:27871226|PMID:28229453|PMID:28492532|PMID:31196143|PMID:31438591|PMID:31988067|PMID:9536098 12016821 B3GAT3 beta-1,3-glucuronyltransferase 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1323698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12016821 B3GAT3 beta-1,3-glucuronyltransferase 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1323698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20335603|PMID:28492532 12016821 B3GAT3 beta-1,3-glucuronyltransferase 3 gene DOID:1059 intellectual disability ISO RGD:1323698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12016821 B3GAT3 beta-1,3-glucuronyltransferase 3 gene DOID:630 genetic disease ISO RGD:1323698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12016821 B3GAT3 beta-1,3-glucuronyltransferase 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1323698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 12016831 SMIM18 small integral membrane protein 18 gene DOID:630 genetic disease ISO RGD:7204607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12016854 HSDL2-AS1 HSDL2 antisense RNA 1 gene DOID:630 genetic disease ISO RGD:1626519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12016865 ZNF234 zinc finger protein 234 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1344990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12016865 ZNF234 zinc finger protein 234 gene DOID:5419 schizophrenia ISO RGD:1344990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12016865 ZNF234 zinc finger protein 234 gene DOID:630 genetic disease ISO RGD:1344990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12016908 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1 gene DOID:10283 prostate cancer ISO RGD:1606814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12016908 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1 gene DOID:630 genetic disease ISO RGD:1606814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12016908 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12016955 PHYHIPL phytanoyl-CoA 2-hydroxylase interacting protein like gene DOID:630 genetic disease ISO RGD:1317467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12016964 RMDN2 regulator of microtubule dynamics 2 gene DOID:0080690 RASopathy ISO RGD:1605570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12016964 RMDN2 regulator of microtubule dynamics 2 gene DOID:3883 Lynch syndrome ISO RGD:1605570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12016964 RMDN2 regulator of microtubule dynamics 2 gene DOID:630 genetic disease ISO RGD:1605570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12016964 RMDN2 regulator of microtubule dynamics 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605570 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12016979 AKIP1 A-kinase interacting protein 1 gene DOID:0080600 COVID-19 ISO RGD:1315871 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12016979 AKIP1 A-kinase interacting protein 1 gene DOID:9775 diastolic heart failure ISO RGD:1315871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12017036 PLEKHA3 pleckstrin homology domain containing A3 gene DOID:0090048 dystonia 16 ISO RGD:1313158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia 16 PMID:28492532 12017036 PLEKHA3 pleckstrin homology domain containing A3 gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1313158 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:18948003|PMID:21681106|PMID:22335739|PMID:23975875|PMID:24395473|PMID:25589632|PMID:28492532|PMID:30557390 12017036 PLEKHA3 pleckstrin homology domain containing A3 gene DOID:630 genetic disease ISO RGD:1313158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28067908 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:15638228|REF_RGD_ID:1625756 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:0050745 diffuse large B-cell lymphoma disease_progression ISO RGD:69659 D RGD:9068941 20200609 RGD proteion:increased expression:serum: PMID:12598355|REF_RGD_ID:11354982 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:20004360|REF_RGD_ID:4145463 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:7686390|REF_RGD_ID:11520780 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:0060180 colitis ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:colon: PMID:22261574|REF_RGD_ID:7207796 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, lung (rat) PMID:20950211|REF_RGD_ID:4145335 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:0081120 Graves ophthalmopathy ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.1405A>G (human) PMID:14557478|REF_RGD_ID:8158124 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:0081267 graft-versus-host disease ISO RGD:10756 D RGD:9068941 20200609 RGD protein:increased expression:liver,bile duct: PMID:10051478|REF_RGD_ID:11520783 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:0081292 traumatic brain injury ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28642177 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:0111151 Prinzmetal angina ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:9415270|REF_RGD_ID:8547713 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:10128 venous insufficiency susceptibility ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Venous Thrombosis; PMID:25495610|REF_RGD_ID:11054206 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:10247 pleurisy ISO RGD:10756 D RGD:9068941 20200609 RGD protein:increased expression:bronchial epithelium (mouse) PMID:19056932|REF_RGD_ID:4145519 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:10247 pleurisy ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181422 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:10247 pleurisy ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Tuberculosis; protein:increased expression:pleural fluid, natural killer cell (human) PMID:19714575|REF_RGD_ID:4145510 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:10283 prostate cancer ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:19536890|REF_RGD_ID:4145511 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:10591 pre-eclampsia treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:21830843|REF_RGD_ID:8547718 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:10652 Alzheimer's disease ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.K469E (human) PMID:12498973|REF_RGD_ID:1358664 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:10754 otitis media ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20926702|REF_RGD_ID:8547580 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:10763 hypertension ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12149661|PMID:12425201 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:10763 hypertension ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum PMID:18619052|REF_RGD_ID:2312765 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:10952 nephritis treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:8773354|REF_RGD_ID:8547716 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:10964 cholesteatoma of middle ear ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:8562031|REF_RGD_ID:8547586 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:11054 urinary bladder cancer ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:7686390|REF_RGD_ID:11520780 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:11204 allergic conjunctivitis ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:8766745|REF_RGD_ID:8547686 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:11263 chlamydia ISO RGD:10756 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:19728926|REF_RGD_ID:4145507 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:11394 adult respiratory distress syndrome severity ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:19858233|REF_RGD_ID:4145485 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:11446 sciatic neuropathy ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:20546684|REF_RGD_ID:8547739 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:11713 diabetic angiopathy ISO RGD:10756 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:aorta PMID:18093596|REF_RGD_ID:2306988 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:11713 diabetic angiopathy ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18796303|REF_RGD_ID:2313473 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:11714 gestational diabetes ISO RGD:69659 D RGD:9068941 20200609 RGD protein:decreased expression:placenta PMID:19343356|REF_RGD_ID:2313469 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:11714 gestational diabetes ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:decidua, endothelial cell PMID:17990298|REF_RGD_ID:2313476 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:heart left ventricle (rat) PMID:20601373|REF_RGD_ID:4145536 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:1205 allergic disease ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:7524984|REF_RGD_ID:8158114 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:1205 allergic disease ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Giardiasis;protein:increased expression:serum PMID:15587302|REF_RGD_ID:8547689 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:12236 primary biliary cholangitis treatment ISO RGD:10756 D RGD:9068941 20200609 RGD associated with Graft vs Host Disease; PMID:10051478|REF_RGD_ID:11520783 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:12351 alcoholic hepatitis severity ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:hepatocyte PMID:1347281|REF_RGD_ID:14402038 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:12361 Graves' disease ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:blood, lymphocyte PMID:12357047|REF_RGD_ID:8158121 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:12361 Graves' disease no_association ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:SNP: :p.K469E (rs5498) (human) PMID:17873320|REF_RGD_ID:8547702 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:12361 Graves' disease onset ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.721G>A (human) PMID:14557478|REF_RGD_ID:8158124 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:12365 malaria ISO RGD:69659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malaria, cerebral, susceptibility to | ClinVar Annotator: match by term: Malaria, susceptibility to PMID:10417733|PMID:10699175|PMID:23609612|PMID:25741868|PMID:9259284|PMID:9861406 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:12365 malaria susceptibility ISO RGD:69659 D RGD:7240710 20190502 OMIM 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:12662 paracoccidioidomycosis ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:17003484|REF_RGD_ID:8547589 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:10756 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:20888423|REF_RGD_ID:4145440 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Reperfusion Injury; mRNA, protein:increased expression:lung (rat) PMID:19837405|REF_RGD_ID:4145493 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17425601 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased secretion:nasopharynx PMID:20209309|REF_RGD_ID:4140425 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:1287 cardiovascular system disease ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16332659|PMID:25575156 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:12894 Sjogren's syndrome ISO RGD:10756 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15037117|REF_RGD_ID:8547696 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:12894 Sjogren's syndrome ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:salivary gland PMID:11359451|REF_RGD_ID:8158122 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:12894 Sjogren's syndrome treatment ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:21589878|REF_RGD_ID:8547705 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:12986 leukostasis ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10485912 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:13025 retinopathy of prematurity ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (rat) PMID:20368504|REF_RGD_ID:4145427 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:13141 uveitis ISO RGD:69659 D RGD:9068941 20200609 RGD protein:altered expression:serum, vitreous humor PMID:9640197|REF_RGD_ID:8547585 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:13141 uveitis treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:7641842|REF_RGD_ID:8158119 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:7743671|REF_RGD_ID:8547590 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:13241 Behcet's disease ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12074830|PMID:8712863 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:13241 Behcet's disease ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.R241G (human) PMID:11409120|REF_RGD_ID:8547575 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:13241 Behcet's disease no_association ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.R241G (human) PMID:10792421|REF_RGD_ID:8158123 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:13241 Behcet's disease susceptibility ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.K469E (human) PMID:12808331|REF_RGD_ID:8158115 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:13252 mesenteric vascular occlusion treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:7858885|REF_RGD_ID:11522711 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:13580 cholestasis ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224055 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:13608 biliary atresia susceptibility ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G241R (human) PMID:18401716|REF_RGD_ID:14402043 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:1555 urticaria ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12121561 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:1586 rheumatic fever ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14567831|REF_RGD_ID:13702910 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:1612 breast cancer ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:7686390|REF_RGD_ID:11520780 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:1793 pancreatic cancer ISO RGD:69659 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas PMID:11815996|REF_RGD_ID:2325165 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:1909 melanoma disease_progression ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:8599446|REF_RGD_ID:8547584 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:1936 atherosclerosis ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12677255 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:22379785|REF_RGD_ID:8547729 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:2316 brain ischemia ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17394460|PMID:19417757 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:2349 arteriosclerosis ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:2377 multiple sclerosis ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20175758 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:2394 ovarian cancer ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:7686390|REF_RGD_ID:11520780 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:2527 nephrosis ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12845231 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:2723 dermatitis treatment ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:9366707|REF_RGD_ID:8547708 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:2773 contact dermatitis ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:20182448|REF_RGD_ID:5685684 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:2797 idiopathic interstitial pneumonia ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:lung, alveolar macrophage (human) PMID:19218648|REF_RGD_ID:4145518 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:2841 asthma ISO RGD:10756 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta (mouse) PMID:20400685|REF_RGD_ID:4145444 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:2841 asthma ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:lung, serum (rat) PMID:20953388|REF_RGD_ID:4145331 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:2841 asthma ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17014439|PMID:25003170 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:2841 asthma ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased secretion:lung (human) PMID:20205697|REF_RGD_ID:4145509 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:3021 acute kidney failure treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:22659586|REF_RGD_ID:7175102 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:10756 D RGD:9068941 20200609 RGD protein:decreased expression:airway epithelium (mouse) PMID:18794286|REF_RGD_ID:4145522 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29329563 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69659 D RGD:9068941 20200609 RGD mRNA:increased expression:airway epithelial cell (human) PMID:20395558|REF_RGD_ID:4145446 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:3454 brain infarction ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum PMID:18692933|REF_RGD_ID:2313474 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:3526 cerebral infarction ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex PMID:20083630|REF_RGD_ID:8547724 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:3770 pulmonary fibrosis ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:19254480|REF_RGD_ID:4145516 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:3904 bronchus carcinoma ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased secretion:lung (human) PMID:18764914|REF_RGD_ID:4145523 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:69659 D RGD:9068941 20200609 RGD progression-free survival; protein:increased secretion:serum (human) PMID:19949019|REF_RGD_ID:4145465 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:418 systemic scleroderma ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:1371389|PMID:18759276|REF_RGD_ID:8158120|REF_RGD_ID:8547576 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:418 systemic scleroderma disease_progression ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:8099861|REF_RGD_ID:8547587 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:4195 hyperglycemia ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:cerebral cortex, pyramidal layer (rat) PMID:20495289|REF_RGD_ID:4145407 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:4676 uremia ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17347482 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:4724 brain edema ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Reperfusion Injury; protein:increased expression:brain (rat) PMID:20570121|REF_RGD_ID:4145390 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:4989 pancreatitis ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12923961|REF_RGD_ID:2325163 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:4989 pancreatitis treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:23125085|REF_RGD_ID:8547728 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic;DNA:missense mutations, haplotype:cds:p.G241R, p.K469E (human) PMID:18233990|REF_RGD_ID:14402042 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:5199 ureteral obstruction ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:renal endothelium, epithelium, interstitium PMID:10930117|REF_RGD_ID:11522713 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:552 pneumonia treatment ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Reperfusion Injury PMID:22882462|REF_RGD_ID:8547727 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:5679 retinal disease ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19324842 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:574 peripheral nervous system disease ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:576 proteinuria ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA, protein:increased expression:kidney PMID:22681549|REF_RGD_ID:8547734 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:5844 myocardial infarction ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10070497 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:5844 myocardial infarction treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:23139358|REF_RGD_ID:8547733 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:69659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:6432 pulmonary hypertension ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Heart Defects, Congenital;protein:increased secretion:serum (human) PMID:21034646|REF_RGD_ID:4145436 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:26109813|REF_RGD_ID:11056752 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:783 end stage renal disease ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:20820841|REF_RGD_ID:4145364 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:820 myocarditis ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:22268115|REF_RGD_ID:13702908 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:820 myocarditis ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9556870|REF_RGD_ID:13702915 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:8472 localized scleroderma ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:7916356|REF_RGD_ID:8158116 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:8481 rheumatic myocarditis severity ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22987107|REF_RGD_ID:13702907 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:8506 bullous pemphigoid ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:1377725|REF_RGD_ID:8547591 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:8549 chronic ulcer of skin ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;protein:increased expression:blood PMID:8099861|REF_RGD_ID:8547587 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:8567 Hodgkin's lymphoma ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7621881|PMID:8656679 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:8567 Hodgkin's lymphoma ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:7686390|REF_RGD_ID:11520780 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:8577 ulcerative colitis ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:substantia nigra (rat) PMID:20584104|REF_RGD_ID:4145388 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:8577 ulcerative colitis ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15553846 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:874 bacterial pneumonia ISO RGD:10756 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:19846873|REF_RGD_ID:4145490 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:8778 Crohn's disease ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:15638228|REF_RGD_ID:1625756 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:8893 psoriasis severity ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:8094011|REF_RGD_ID:8547688 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:8893 psoriasis treatment ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:16181457|PMID:2015706|REF_RGD_ID:8158118|REF_RGD_ID:8547579 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:8923 skin melanoma disease_progression ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.R241G (human) PMID:16313300|REF_RGD_ID:8547698 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:8947 diabetic retinopathy ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10485912 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:8947 diabetic retinopathy ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:18834676|REF_RGD_ID:2313472 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:8947 diabetic retinopathy ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.K469E (human) PMID:18942221|REF_RGD_ID:2313471 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:8947 diabetic retinopathy treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:25066112|REF_RGD_ID:11354984 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:8627308|REF_RGD_ID:11522712 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:21590495|REF_RGD_ID:8547712 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9000099 Experimental Colitis treatment ISO RGD:2857 D RGD:9068941 20220623 RGD PMID:10092309|PMID:29572553|REF_RGD_ID:11522714|REF_RGD_ID:152995414 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9000310 Lung Injury treatment ISO RGD:10756 D RGD:9068941 20200609 RGD associated with Bacteremia; PMID:24891762|REF_RGD_ID:11354979 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:20731855|REF_RGD_ID:4145368 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9000469 Viral Myocarditis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:11156888|REF_RGD_ID:13702912 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9000469 Viral Myocarditis treatment ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:11092674|REF_RGD_ID:13702913 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9000656 Penetrating Wounds ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:granulation tissue (rat) PMID:20638379|REF_RGD_ID:4145377 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9000722 Animal Hepatitis treatment ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:21695461|REF_RGD_ID:14402037 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17014439 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9000774 Brain Death ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:20810760|REF_RGD_ID:4145365 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9000784 Fibrosis ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas PMID:22844569|REF_RGD_ID:8547732 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14602771 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Melanoma, Cutaneous Malignant PMID:10465581|REF_RGD_ID:8547593 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms;protein:increased expression:serum PMID:12923961|REF_RGD_ID:2325163 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9000998 Brain Injuries ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:16230799|REF_RGD_ID:11522716 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9001044 Choroidal Neovascularization ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:retina, choroid, sclera (rat) PMID:20497436|REF_RGD_ID:4145405 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9001472 Nasal Polyps ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity epithelium PMID:11593541|REF_RGD_ID:8547687 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9001600 Wounds and Injuries ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:10756 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (mouse) PMID:19828841|REF_RGD_ID:4145497 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Hypertension PMID:15007035|REF_RGD_ID:8547707 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:10235552|REF_RGD_ID:8547704 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Intestinal Reperfusion Injury;protein:increased expression:liver PMID:8780571|REF_RGD_ID:14402044 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:7884306|REF_RGD_ID:11520784 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:10756 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney (mouse) PMID:20447389|REF_RGD_ID:4145414 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19246972|REF_RGD_ID:2313470 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:SNP: :p.K469E (rs5498) (human) PMID:18505543|REF_RGD_ID:2313475 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:18299691|REF_RGD_ID:2312766 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:7658704|REF_RGD_ID:11354983 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:7686390|REF_RGD_ID:11520780 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16606632 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:11701617|REF_RGD_ID:13702911 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:8093459|REF_RGD_ID:8547692 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9002906 Multiple Organ Failure ISO RGD:10756 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, intestine (mouse) PMID:19819333|REF_RGD_ID:4145501 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9002906 Multiple Organ Failure ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased secretion:serum (rat) PMID:20646933|REF_RGD_ID:4145375 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:19213042|REF_RGD_ID:8547577 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16497620|PMID:7902311 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:10756 D RGD:9068941 20200609 RGD protein:increased expression:lung, endothelium (mouse) PMID:19968652|REF_RGD_ID:4145464 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased secretion:nasopharynx (human) PMID:19047814|REF_RGD_ID:4145520 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9003709 Mercury Poisoning ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased secretion:serum (rat) PMID:20508868|REF_RGD_ID:4145621 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9004009 Reperfusion Injury ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11557319|PMID:23743330 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9004484 Sepsis ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (rat) PMID:20451670|REF_RGD_ID:4145409 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9004610 Acute Lung Injury ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17973899|PMID:27525872 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:20569121|REF_RGD_ID:8547719 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9004898 Jaundice ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:19034056|REF_RGD_ID:4145521 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9005036 Bacteremia ISO RGD:10756 D RGD:9068941 20200609 RGD mRNA:increased expression:lung,thymus,spleen: PMID:24891762|REF_RGD_ID:11354979 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9005372 Inflammation ISO RGD:10756 D RGD:9068941 20200609 RGD associated with Sjogren's Syndrome PMID:15037117|REF_RGD_ID:8547696 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9005372 Inflammation ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:kidney (rat) PMID:20980457|REF_RGD_ID:4145328 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9005372 Inflammation ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19324842|PMID:23371441 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9005372 Inflammation treatment ISO RGD:10756 D RGD:9068941 20200609 RGD associated with myocardial infarction PMID:21658725|REF_RGD_ID:13702909 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9005372 Inflammation treatment ISO RGD:2857 D RGD:9068941 20200626 RGD PMID:20600813|REF_RGD_ID:4145532 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9005396 Intimal Hyperplasia treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:9118520|REF_RGD_ID:11520787 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10756 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:18093596|REF_RGD_ID:2306988 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18413153|REF_RGD_ID:2306987 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14871415|PMID:20388520|PMID:24513509 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:20136425|REF_RGD_ID:8547703 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9005647 Experimental Autoimmune Uveitis treatment ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:8100190|REF_RGD_ID:8158117 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9005930 Endotoxemia ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:19776691|REF_RGD_ID:4145502 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:carotid artery (rat) PMID:20368503|REF_RGD_ID:4145429 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9006642 Experimental Autoimmune Uveoretinitis treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:7909311|REF_RGD_ID:8547706 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19394054|REF_RGD_ID:2313467 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9006709 Primary Graft Dysfunction treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:10666412|PMID:22617707|REF_RGD_ID:11520779|REF_RGD_ID:8547722 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:22503847|REF_RGD_ID:7240537 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:9916118|REF_RGD_ID:8547701 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9007096 Stroke ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20083630 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9007096 Stroke treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:10066862|REF_RGD_ID:11522710 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9007156 Enteritis ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:intestinal mucosa (rat) PMID:20885979|REF_RGD_ID:4145336 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9007355 Hashimoto Disease ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:7626551|REF_RGD_ID:8547592 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24069166 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9007480 Hyperoxia ISO RGD:10756 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:20237791|REF_RGD_ID:4145449 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:10201790|PMID:23706497|REF_RGD_ID:10402063|REF_RGD_ID:11520782 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9007651 Chronic Bronchitis ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:bronchial epithelium (rat) PMID:19507274|REF_RGD_ID:2308951 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9007692 Insulin Resistance ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Obesity;protein:increased secretion:plasma (human) PMID:11782876|REF_RGD_ID:1625753 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9007692 Insulin Resistance ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19394054|REF_RGD_ID:2313467 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:12095141|REF_RGD_ID:11522715 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:heart (rat) PMID:20851484|REF_RGD_ID:4145348 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12087064 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased secretion:nasopharynx, secretion (human) PMID:20128420|REF_RGD_ID:4145459 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9008691 Liver Injury treatment ISO RGD:2857 D RGD:9068941 20200609 RGD associated with acute pancreatitis PMID:26586701|REF_RGD_ID:14402036 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12759764|PMID:17245593 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9009184 Eosinophilic Myocarditis treatment ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:9822282|REF_RGD_ID:13702914 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9009185 Lymphocytic Myocarditis ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:9205546|REF_RGD_ID:13703027 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9279 hyperhomocysteinemia ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:descending aorta, endothelial cells (rat) PMID:20871618|REF_RGD_ID:4144131 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9351 diabetes mellitus ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19394054|REF_RGD_ID:2313467 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta (rat) PMID:20388520|REF_RGD_ID:4145422 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24513509 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18299691|REF_RGD_ID:2312766 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9383 iridocyclitis ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.R241G (human) PMID:20445114|REF_RGD_ID:8547694 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9538 multiple myeloma ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:7686390|REF_RGD_ID:11520780 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9538 multiple myeloma treatment ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:7834632|REF_RGD_ID:11354981 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9563 bronchiectasis ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17931847 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Retinal Detachment;protein:increased expression:vitreous humor PMID:10413701|REF_RGD_ID:8547581 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19373518|REF_RGD_ID:2313468 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:16978373|REF_RGD_ID:1625758 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9970 obesity ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:submandibular gland (rat) PMID:20973827|REF_RGD_ID:4145329 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9970 obesity ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11782876 12017058 ICAM1 intercellular adhesion molecule 1 gene DOID:9970 obesity ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:20004360|REF_RGD_ID:4145463 12017070 ISCA2 iron-sulfur cluster assembly 2 gene DOID:0070330 multiple mitochondrial dysfunctions syndrome ISO RGD:1319881 D RGD:8554872 20220621 ClinVar ClinVar Annotator: match by term: Fatal multiple mitochondrial dysfunctions syndrome PMID:25434003|PMID:25539947|PMID:25558065|PMID:25741868|PMID:28492532|PMID:29122497|PMID:29297947|PMID:29470032 12017070 ISCA2 iron-sulfur cluster assembly 2 gene DOID:0080136 multiple mitochondrial dysfunctions syndrome 4 ISO RGD:1319881 D RGD:7240710 20180130 OMIM 12017070 ISCA2 iron-sulfur cluster assembly 2 gene DOID:0080136 multiple mitochondrial dysfunctions syndrome 4 ISO RGD:1319881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 4 PMID:25434003|PMID:25539947|PMID:25558065|PMID:25741868|PMID:28492532|PMID:29122497|PMID:29297947|PMID:29359243|PMID:29470032 12017070 ISCA2 iron-sulfur cluster assembly 2 gene DOID:1059 intellectual disability ISO RGD:1319881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12017070 ISCA2 iron-sulfur cluster assembly 2 gene DOID:630 genetic disease ISO RGD:1319881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12017070 ISCA2 iron-sulfur cluster assembly 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1319881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25434003|PMID:25539947|PMID:25558065|PMID:25741868|PMID:28492532|PMID:29122497|PMID:29297947|PMID:29470032 12017078 CEBPE CCAAT enhancer binding protein epsilon gene DOID:0060318 acute promyelocytic leukemia ISO RGD:733093 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16788101 12017078 CEBPE CCAAT enhancer binding protein epsilon gene DOID:0060439 lysinuric protein intolerance ISO RGD:733093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12017078 CEBPE CCAAT enhancer binding protein epsilon gene DOID:630 genetic disease ISO RGD:733093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12017078 CEBPE CCAAT enhancer binding protein epsilon gene DOID:9000056 Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain ISO RGD:733093 D RGD:7240710 20220921 OMIM 12017078 CEBPE CCAAT enhancer binding protein epsilon gene DOID:9000056 Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain ISO RGD:733093 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pelger-Huet-like anomaly and episodic fever with abdominal pain PMID:31201888|PMID:4831644 12017078 CEBPE CCAAT enhancer binding protein epsilon gene DOID:9000265 Specific Granule Deficiency ISO RGD:733093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:25741868|PMID:28492532 12017078 CEBPE CCAAT enhancer binding protein epsilon gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:733093 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12017078 CEBPE CCAAT enhancer binding protein epsilon gene DOID:9009082 Specific Granule Deficiency 1 ISO RGD:733093 D RGD:7240710 20190327 OMIM 12017078 CEBPE CCAAT enhancer binding protein epsilon gene DOID:9009082 Specific Granule Deficiency 1 ISO RGD:733093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Specific granule deficiency 1 PMID:10359588|PMID:11313242|PMID:17244686|PMID:25741868|PMID:26019275|PMID:28492532|PMID:29651288|PMID:32391290|PMID:35726044|PMID:4129798|PMID:7088114|PMID:758416 12017078 CEBPE CCAAT enhancer binding protein epsilon gene DOID:9952 acute lymphoblastic leukemia ISO RGD:733093 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19684604 12017107 SUSD1 sushi domain containing 1 gene DOID:630 genetic disease ISO RGD:1315881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12017134 SP1 Sp1 transcription factor gene DOID:4195 hyperglycemia ISO RGD:732035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11696579 12017134 SP1 Sp1 transcription factor gene DOID:630 genetic disease ISO RGD:732035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12017134 SP1 Sp1 transcription factor gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:732035 D RGD:9068941 20200609 RGD protein:increased phosphorylation:smooth muscle cell: PMID:18258854|REF_RGD_ID:9854624 12017134 SP1 Sp1 transcription factor gene DOID:9000918 Disease Progression ISO RGD:732035 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35072892 12017134 SP1 Sp1 transcription factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:732035 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:12538496|PMID:35072892 12017134 SP1 Sp1 transcription factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12017134 SP1 Sp1 transcription factor gene DOID:9004464 Skin Neoplasms ISO RGD:732035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22009531 12017134 SP1 Sp1 transcription factor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732035 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:26317792|PMID:35072892 12017134 SP1 Sp1 transcription factor gene DOID:9006182 Carotid Artery Injuries ISO RGD:3738 D RGD:9068941 20200609 RGD protein:increased phosphorylation:smooth muscle cell: PMID:18258854|REF_RGD_ID:9854624 12017134 SP1 Sp1 transcription factor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22009531 12017134 SP1 Sp1 transcription factor gene DOID:9008443 Colorectal Neoplasms ISO RGD:732035 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35072892 12017152 LOC100985433 histone H2B type 2-E gene DOID:1540 parathyroid carcinoma ISO RGD:1343213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12017152 LOC100985433 histone H2B type 2-E gene DOID:630 genetic disease ISO RGD:1343213 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12017152 LOC100985433 histone H2B type 2-E gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12017176 PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1346725 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 12017176 PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase gene DOID:5419 schizophrenia ISO RGD:1346725 D RGD:9068941 20200609 RGD DNA:snp:intron:c.2627T>C rs1356787 (human) PMID:19850283|REF_RGD_ID:5135429 12017176 PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase gene DOID:630 genetic disease ISO RGD:1346725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12017176 PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase gene DOID:9000051 PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY ISO RGD:1346725 D RGD:7240710 20220713 OMIM 12017176 PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase gene DOID:9000051 PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY ISO RGD:1346725 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Phosphoribosylaminoimidazole carboxylase deficiency PMID:31600779 12017193 FLG filaggrin gene DOID:0070338 cerebellar hypoplasia ISO RGD:737239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868 12017193 FLG filaggrin gene DOID:0110098 atopic dermatitis 2 ISO RGD:737239 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dermatitis, atopic, 2 | ClinVar Annotator: match by term: Dermatitis, atopic, 2, susceptibility to PMID:16444271|PMID:16550169|PMID:16815158|PMID:17030239|PMID:17291859|PMID:17417636|PMID:17657246|PMID:18325573|PMID:18396323|PMID:19183181|PMID:19501237|PMID:19538357|PMID:19733298|PMID:19785597|PMID:19839980|PMID:19874431|PMID:20426775|PMID:20573035|PMID:20674819|PMID:21039602|PMID:21365004|PMID:21377035|PMID:21514438|PMID:21564328|PMID:21777221|PMID:22403702|PMID:22407025|PMID:22951058|PMID:22995991|PMID:23039796|PMID:23166590|PMID:23301728|PMID:23343419|PMID:23352160|PMID:23947670|PMID:23993222|PMID:24033266|PMID:24077912|PMID:24251354|PMID:24565632|PMID:24608987|PMID:24920311|PMID:25314673|PMID:25333069|PMID:25741868|PMID:26451970|PMID:27279822|PMID:27363669|PMID:27462351|PMID:28143684|PMID:28164424|PMID:28213896|PMID:28730607|PMID:29054605|PMID:29068602|PMID:29428354|PMID:29431110|PMID:29444371|PMID:29791750|PMID:30665703|PMID:31365035|PMID:31637781|PMID:32066784 12017193 FLG filaggrin gene DOID:0110098 atopic dermatitis 2 susceptibility ISO RGD:737239 D RGD:7240710 20230510 OMIM 12017193 FLG filaggrin gene DOID:0111940 immunodeficiency 42 ISO RGD:737239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12017193 FLG filaggrin gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:737239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12017193 FLG filaggrin gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:737239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12017193 FLG filaggrin gene DOID:11372 megacolon ISO RGD:737239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12017193 FLG filaggrin gene DOID:1540 parathyroid carcinoma ISO RGD:737239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12017193 FLG filaggrin gene DOID:1697 ichthyosis ISO RGD:737239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ichthyosis PMID:25741868 12017193 FLG filaggrin gene DOID:1702 ichthyosis vulgaris ISO RGD:737239 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant ichthyosis vulgaris | ClinVar Annotator: match by term: Dominant ichthyosis vulgaris | ClinVar Annotator: match by term: Ichthyosis vulgaris PMID:16444271|PMID:16550169|PMID:16815158|PMID:17030239|PMID:17291859|PMID:17417636|PMID:17657246|PMID:18200065|PMID:18239616|PMID:18325573|PMID:18396323|PMID:18662816|PMID:19183181|PMID:19501237|PMID:19538357|PMID:19663875|PMID:19733298|PMID:19785597|PMID:19839980|PMID:19874431|PMID:20426775|PMID:20573035|PMID:20674819|PMID:21039602|PMID:21365004|PMID:21377035|PMID:21428977|PMID:21514438|PMID:21564328|PMID:21777221|PMID:21923666|PMID:22220561|PMID:22403702|PMID:22407025|PMID:22951058|PMID:22995991|PMID:23039796|PMID:23166590|PMID:23301728|PMID:23343419|PMID:23352160|PMID:23947670|PMID:23993222|PMID:24033266|PMID:24077912|PMID:24251354|PMID:24565632|PMID:24608987|PMID:24629053|PMID:24920311|PMID:25314673|PMID:25333069|PMID:25741868|PMID:25997159|PMID:26451970|PMID:27279822|PMID:27363669|PMID:27462351|PMID:27519469|PMID:28120571|PMID:28143684|PMID:28164424|PMID:28213896|PMID:28407221|PMID:28492532|PMID:28730607|PMID:29054605|PMID:29056476|PMID:29068602|PMID:29130490|PMID:29428354|PMID:29431110|PMID:29444371|PMID:29791750|PMID:30665703|PMID:30681730|PMID:31365035|PMID:31637781|PMID:32066784|PMID:33116287|PMID:34008892 12017193 FLG filaggrin gene DOID:1702 ichthyosis vulgaris susceptibility ISO RGD:737239 D RGD:7240710 20230510 OMIM 12017193 FLG filaggrin gene DOID:2723 dermatitis ISO RGD:737239 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31330126 12017193 FLG filaggrin gene DOID:2773 contact dermatitis ISO RGD:737239 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12017193 FLG filaggrin gene DOID:3310 atopic dermatitis ISO RGD:737239 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Atopic eczema PMID:16444271|PMID:16550169|PMID:16815158|PMID:17030239|PMID:18325573|PMID:19501237|PMID:19839980|PMID:19874431|PMID:21514438|PMID:22403702|PMID:23947670|PMID:24033266|PMID:24920311|PMID:25741868|PMID:27279822|PMID:27363669|PMID:31637781 12017193 FLG filaggrin gene DOID:5812 MHC class II deficiency ISO RGD:737239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12017193 FLG filaggrin gene DOID:630 genetic disease ISO RGD:737239 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:29056476 12017193 FLG filaggrin gene DOID:9004430 Hyperhidrosis Palmaris Et Plantaris ISO RGD:737239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPRPP PMID:25741868 12017193 FLG filaggrin gene DOID:9007356 Eczema ISO RGD:737239 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Eczema PMID:16444271|PMID:16550169|PMID:16815158|PMID:17030239|PMID:18325573|PMID:19501237|PMID:19839980|PMID:19874431|PMID:21514438|PMID:22403702|PMID:23947670|PMID:24033266|PMID:24920311|PMID:25741868|PMID:27279822|PMID:27363669|PMID:31637781 12017193 FLG filaggrin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12017198 CASQ2 calsequestrin 2 gene DOID:0050700 cardiomyopathy ISO RGD:737298 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12034872|PMID:17881003|PMID:18543230|PMID:19709828|PMID:20530761|PMID:21063088|PMID:21454795|PMID:22421959|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26671417|PMID:27930701|PMID:28074886|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:30847666|PMID:32693635|PMID:33093545|PMID:35932045|PMID:36291626 12017198 CASQ2 calsequestrin 2 gene DOID:0060224 atrial fibrillation ISO RGD:737298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12017198 CASQ2 calsequestrin 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:737298 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:16601229|PMID:16908766|PMID:17576681|PMID:17881003|PMID:18469084|PMID:18543230|PMID:18583715|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20301466|PMID:20353949|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:23286974|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26230511|PMID:26671417|PMID:27114410|PMID:27538377|PMID:27930701|PMID:28074886|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29255176|PMID:29544605|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30775854|PMID:30847666|PMID:31482657|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:9536098 12017198 CASQ2 calsequestrin 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:737298 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:17576681|PMID:17881003|PMID:18543230|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:22650415|PMID:23286974|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:24679846|PMID:25163546|PMID:25351510|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26671417|PMID:27114410|PMID:27157848|PMID:27538377|PMID:27930701|PMID:28074886|PMID:28158428|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29255176|PMID:29544605|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30775854|PMID:30847666|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:33093545|PMID:35932045|PMID:36291626|PMID:9536098 12017198 CASQ2 calsequestrin 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:737298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:16601229|PMID:16908766|PMID:17576681|PMID:17881003|PMID:18469084|PMID:18543230|PMID:18583715|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20301466|PMID:20353949|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:22650415|PMID:23286974|PMID:23595086|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:24679846|PMID:25163546|PMID:25351510|PMID:25640679|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26230511|PMID:26671417|PMID:27114410|PMID:27157848|PMID:27538377|PMID:27930701|PMID:28074886|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29255176|PMID:29544605|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30729048|PMID:30775854|PMID:30847666|PMID:31482657|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:9536098 12017198 CASQ2 calsequestrin 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:737298 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:16601229|PMID:16908766|PMID:17576681|PMID:17881003|PMID:18469084|PMID:18543230|PMID:18583715|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20301466|PMID:20353949|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:22650415|PMID:23286974|PMID:23595086|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:24679846|PMID:25163546|PMID:25351510|PMID:25640679|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26230511|PMID:26671417|PMID:27114410|PMID:27157848|PMID:27538377|PMID:27930701|PMID:28074886|PMID:28158428|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29255176|PMID:29544605|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30729048|PMID:30775854|PMID:30847666|PMID:31482657|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:33093545|PMID:35932045|PMID:36291626|PMID:9536098 12017198 CASQ2 calsequestrin 2 gene DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 ISO RGD:737298 D RGD:7240710 20180130 OMIM 12017198 CASQ2 calsequestrin 2 gene DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 ISO RGD:737298 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 PMID:11704930|PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:16908766|PMID:17881003|PMID:18543230|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20301466|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:23286974|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26196381|PMID:26671417|PMID:27157848|PMID:27930701|PMID:28074886|PMID:28158428|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29255176|PMID:29544605|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30775854|PMID:30847666|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:33093545|PMID:35932045|PMID:36291626 12017198 CASQ2 calsequestrin 2 gene DOID:0080074 neural tube defect ISO RGD:737298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:24033266|PMID:25741868|PMID:26196381|PMID:28492532 12017198 CASQ2 calsequestrin 2 gene DOID:0080690 RASopathy ISO RGD:737298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12017198 CASQ2 calsequestrin 2 gene DOID:0080700 caudal regression syndrome ISO RGD:737298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Caudal regression sequence | ClinVar Annotator: match by term: Sacral defect with anterior meningocele PMID:24033266|PMID:25741868|PMID:26196381|PMID:28492532 12017198 CASQ2 calsequestrin 2 gene DOID:0111073 progressive familial heart block ISO RGD:737298 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Progressive familial heart block PMID:23861362|PMID:25741868|PMID:28404607|PMID:28492532|PMID:30615648 12017198 CASQ2 calsequestrin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:737298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:20530761|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532 12017198 CASQ2 calsequestrin 2 gene DOID:1929 supravalvular aortic stenosis onset ISO RGD:2276 D RGD:9068941 20200609 RGD mRNA:decreased expression:left ventricle myocardium PMID:1531837|REF_RGD_ID:6771235 12017198 CASQ2 calsequestrin 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:737298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 12017198 CASQ2 calsequestrin 2 gene DOID:6000 congestive heart failure ISO RGD:2276 D RGD:9068941 20200609 RGD mRNA:increased expression:sinoatrial node PMID:21565973|REF_RGD_ID:6771208 12017198 CASQ2 calsequestrin 2 gene DOID:630 genetic disease ISO RGD:737298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12017198 CASQ2 calsequestrin 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:737298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:20530761|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12017198 CASQ2 calsequestrin 2 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:737298 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:25741868|PMID:27114410|PMID:28492532 12017198 CASQ2 calsequestrin 2 gene DOID:9003163 Heart Block ISO RGD:737298 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:25741868|PMID:27114410|PMID:28492532 12017198 CASQ2 calsequestrin 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:737298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18052993 12017198 CASQ2 calsequestrin 2 gene DOID:9005141 Ventricular Tachycardia susceptibility ISO RGD:737298 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.D307H (human) PMID:11704930|REF_RGD_ID:734697 12017198 CASQ2 calsequestrin 2 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:2276 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21441944|REF_RGD_ID:6771209 12017198 CASQ2 calsequestrin 2 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:737298 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:17576681|PMID:17881003|PMID:18543230|PMID:18684293|PMID:19709828|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:23286974|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26671417|PMID:27114410|PMID:27538377|PMID:27930701|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29255176|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30775854|PMID:30847666|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:9536098 12017198 CASQ2 calsequestrin 2 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:737298 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Polymorphic ventricular tachycardia PMID:12034872|PMID:14571276|PMID:18543230|PMID:19709828|PMID:21063088|PMID:21076409|PMID:21454795|PMID:22421959|PMID:23861362|PMID:24025405|PMID:24033266|PMID:25651173|PMID:25741868|PMID:26671417|PMID:28492532 12017198 CASQ2 calsequestrin 2 gene DOID:9007820 Sudden Death ISO RGD:737298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:12034872|PMID:18543230|PMID:21063088|PMID:21454795|PMID:22421959|PMID:24025405|PMID:24033266|PMID:25651173|PMID:25741868|PMID:26671417|PMID:28492532 12017238 CLNK cytokine dependent hematopoietic cell linker gene DOID:12306 vitiligo ISO RGD:1605010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 12017238 CLNK cytokine dependent hematopoietic cell linker gene DOID:630 genetic disease ISO RGD:1605010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12017261 VWA5A von Willebrand factor A domain containing 5A gene DOID:0110877 holoprosencephaly 11 ISO RGD:1323359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12017261 VWA5A von Willebrand factor A domain containing 5A gene DOID:5419 schizophrenia ISO RGD:1323359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12017261 VWA5A von Willebrand factor A domain containing 5A gene DOID:630 genetic disease ISO RGD:1323359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12017261 VWA5A von Willebrand factor A domain containing 5A gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1323359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12017261 VWA5A von Willebrand factor A domain containing 5A gene DOID:9007661 Dwarfism ISO RGD:1323359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12017295 ADGRL1 adhesion G protein-coupled receptor L1 gene DOID:12849 autistic disorder ISO RGD:733163 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868|PMID:30504930|PMID:35907405 12017295 ADGRL1 adhesion G protein-coupled receptor L1 gene DOID:630 genetic disease ISO RGD:733163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12017295 ADGRL1 adhesion G protein-coupled receptor L1 gene DOID:9004009 Reperfusion Injury ISO RGD:620768 D RGD:9068941 20200609 RGD PMID:12225880|REF_RGD_ID:2314400 12017295 ADGRL1 adhesion G protein-coupled receptor L1 gene DOID:9006518 DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS ISO RGD:733163 D RGD:7240710 20221207 OMIM 12017295 ADGRL1 adhesion G protein-coupled receptor L1 gene DOID:9006518 DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS ISO RGD:733163 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Developmental delay, behavioral abnormalities, and neuropsychiatric disorders PMID:25741868|PMID:30504930|PMID:35907405 12017295 ADGRL1 adhesion G protein-coupled receptor L1 gene DOID:9008086 Developmental Disabilities ISO RGD:733163 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:35907405 12017335 GGA1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1317154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12017335 GGA1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1317154 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12017335 GGA1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1317154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12017335 GGA1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1317154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12017335 GGA1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 gene DOID:630 genetic disease ISO RGD:1317154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12017381 GOLGA6B golgin A6 family member B gene DOID:0110225 Brugada syndrome 8 ISO RGD:1354461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 12017381 GOLGA6B golgin A6 family member B gene DOID:2717 Bloom syndrome ISO RGD:1354461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12017381 GOLGA6B golgin A6 family member B gene DOID:3320 Tay-Sachs disease ISO RGD:1354461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 12017381 GOLGA6B golgin A6 family member B gene DOID:5419 schizophrenia ISO RGD:1354461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12017381 GOLGA6B golgin A6 family member B gene DOID:630 genetic disease ISO RGD:1354461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12017381 GOLGA6B golgin A6 family member B gene DOID:9256 colorectal cancer ISO RGD:1354461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12017391 MTMR10 myotubularin related protein 10 gene DOID:0060041 autism spectrum disorder ISO RGD:1606536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:19050728|PMID:19289393|PMID:21844811|PMID:23044707|PMID:25255310|PMID:25741868|PMID:27569545 12017391 MTMR10 myotubularin related protein 10 gene DOID:0060394 chromosome 15q13.3 microdeletion syndrome ISO RGD:1606536 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome PMID:31690835 12017391 MTMR10 myotubularin related protein 10 gene DOID:0060911 karyomegalic interstitial nephritis ISO RGD:1606536 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Karyomegalic interstitial nephritis PMID:16678356|PMID:17304531|PMID:20621605|PMID:22772369|PMID:25741868|PMID:27196444|PMID:28492532|PMID:30773290|PMID:32111193|PMID:32220227|PMID:7847351 12017391 MTMR10 myotubularin related protein 10 gene DOID:12849 autistic disorder ISO RGD:1606536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12017391 MTMR10 myotubularin related protein 10 gene DOID:5419 schizophrenia ISO RGD:1606536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12017391 MTMR10 myotubularin related protein 10 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 PMID:25741868 12017391 MTMR10 myotubularin related protein 10 gene DOID:630 genetic disease ISO RGD:1606536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12017391 MTMR10 myotubularin related protein 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12017391 MTMR10 myotubularin related protein 10 gene DOID:9256 colorectal cancer ISO RGD:1606536 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 12017424 RPS27L ribosomal protein S27 like gene DOID:0110935 nemaline myopathy 6 ISO RGD:1344574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12017424 RPS27L ribosomal protein S27 like gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1344574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12017424 RPS27L ribosomal protein S27 like gene DOID:2717 Bloom syndrome ISO RGD:1344574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12017424 RPS27L ribosomal protein S27 like gene DOID:630 genetic disease ISO RGD:1344574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12017424 RPS27L ribosomal protein S27 like gene DOID:9256 colorectal cancer ISO RGD:1344574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12017435 AMIGO1 adhesion molecule with Ig like domain 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1606525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12017435 AMIGO1 adhesion molecule with Ig like domain 1 gene DOID:12849 autistic disorder ISO RGD:1606525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12017435 AMIGO1 adhesion molecule with Ig like domain 1 gene DOID:5419 schizophrenia ISO RGD:1552604 D RGD:9068941 20200609 RGD PMID:26240432|REF_RGD_ID:11536055 12017435 AMIGO1 adhesion molecule with Ig like domain 1 gene DOID:630 genetic disease ISO RGD:1606525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12017448 FLII FLII actin remodeling protein gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1316872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dubé Syndrome PMID:20188345|PMID:28492532 12017448 FLII FLII actin remodeling protein gene DOID:0050777 Joubert syndrome ISO RGD:1316872 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12017448 FLII FLII actin remodeling protein gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1316872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12017448 FLII FLII actin remodeling protein gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1316872 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12017448 FLII FLII actin remodeling protein gene DOID:12849 autistic disorder ISO RGD:1316872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12017448 FLII FLII actin remodeling protein gene DOID:12930 dilated cardiomyopathy ISO RGD:1316872 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10862770|PMID:20661277|PMID:25741868|PMID:32870709 12017448 FLII FLII actin remodeling protein gene DOID:630 genetic disease ISO RGD:1316872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12017448 FLII FLII actin remodeling protein gene DOID:9002189 High Myopia ISO RGD:1316872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12017448 FLII FLII actin remodeling protein gene DOID:9006836 Contracture ISO RGD:1316872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 12017488 GPR17 G protein-coupled receptor 17 gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:1347471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:25741868|PMID:28492532 12017488 GPR17 G protein-coupled receptor 17 gene DOID:0111220 centronuclear myopathy 2 ISO RGD:1347471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:28492532 12017488 GPR17 G protein-coupled receptor 17 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1347471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 12017488 GPR17 G protein-coupled receptor 17 gene DOID:3454 brain infarction ISO RGD:1347471 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18974869 12017488 GPR17 G protein-coupled receptor 17 gene DOID:630 genetic disease ISO RGD:1347471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12017488 GPR17 G protein-coupled receptor 17 gene DOID:9000808 Hypercholesterolemia ISO RGD:1347471 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34144038 12017488 GPR17 G protein-coupled receptor 17 gene DOID:9004581 Pediatric Obesity ISO RGD:1347471 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34144038 12017488 GPR17 G protein-coupled receptor 17 gene DOID:9006646 Metabolic Syndrome ISO RGD:1347471 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34144038 12017488 GPR17 G protein-coupled receptor 17 gene DOID:9007692 Insulin Resistance ISO RGD:1347471 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34144038 12017488 GPR17 G protein-coupled receptor 17 gene DOID:9970 obesity ISO RGD:1347471 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34144038 12017497 KRT1 keratin 1 gene DOID:0050428 nonepidermolytic palmoplantar keratoderma ISO RGD:1346930 D RGD:7240710 20180130 OMIM 12017497 KRT1 keratin 1 gene DOID:0050428 nonepidermolytic palmoplantar keratoderma ISO RGD:1346930 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diffuse nonepidermolytic palmoplantar keratoderma PMID:12406346|PMID:19470048|PMID:25741868|PMID:28492532|PMID:7528239 12017497 KRT1 keratin 1 gene DOID:0080223 epidermolytic palmoplantar keratoderma ISO RGD:1346930 D RGD:7240710 20180130 OMIM 12017497 KRT1 keratin 1 gene DOID:0080223 epidermolytic palmoplantar keratoderma ISO RGD:1346930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma PMID:11286630|PMID:28492532 12017497 KRT1 keratin 1 gene DOID:0081110 keratosis palmoplantaris striata 3 ISO RGD:1346930 D RGD:7240710 20180130 OMIM 12017497 KRT1 keratin 1 gene DOID:0081110 keratosis palmoplantaris striata 3 ISO RGD:1346930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratosis palmoplantaris striata 3 PMID:11286616|PMID:11982762 12017497 KRT1 keratin 1 gene DOID:10283 prostate cancer ISO RGD:1346930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12017497 KRT1 keratin 1 gene DOID:161 keratosis ISO RGD:1346930 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35363433 12017497 KRT1 keratin 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1346930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 12017497 KRT1 keratin 1 gene DOID:4603 epidermolytic hyperkeratosis ISO RGD:1346930 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma PMID:11531804|PMID:11559215|PMID:12406348|PMID:1380725|PMID:1381288|PMID:25741868|PMID:26581228|PMID:28492532|PMID:33363884|PMID:7511022|PMID:7512983 12017497 KRT1 keratin 1 gene DOID:4603 epidermolytic hyperkeratosis susceptibility ISO RGD:1346930 D RGD:9068941 20200609 RGD DNA:mutation: ; 5191/5192GG>A PMID:11286616|REF_RGD_ID:1600166 12017497 KRT1 keratin 1 gene DOID:630 genetic disease ISO RGD:1346930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12017497 KRT1 keratin 1 gene DOID:9000550 Epidermolytic Hyperkeratosis, Late-Onset ISO RGD:1346930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolytic hyperkeratosis, late-onset PMID:12648226 12017497 KRT1 keratin 1 gene DOID:9002744 Ichthyosis Hystrix, Curth Macklin Type ISO RGD:1346930 D RGD:7240710 20180130 OMIM 12017497 KRT1 keratin 1 gene DOID:9002744 Ichthyosis Hystrix, Curth Macklin Type ISO RGD:1346930 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ichthyosis hystrix, Curth Macklin type PMID:16417221|PMID:21844476|PMID:22834809 12017497 KRT1 keratin 1 gene DOID:9004464 Skin Neoplasms ISO RGD:1346930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 12017497 KRT1 keratin 1 gene DOID:9005778 Annular Epidermolytic Ichthyosis ISO RGD:1346930 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Annular epidermolytic ichthyosis PMID:10053007|PMID:14708600|PMID:15214894|PMID:22250628|PMID:25741868|PMID:28492532|PMID:30152556|PMID:31046801|PMID:8751983 12017497 KRT1 keratin 1 gene DOID:9006135 Epidermolytic Hyperkeratosis 1 ISO RGD:1346930 D RGD:7240710 20230517 OMIM 12017497 KRT1 keratin 1 gene DOID:9006224 Reticular Erythrokeratoderma ISO RGD:1346930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital reticular ichthyosiform erythroderma PMID:25774499 12017497 KRT1 keratin 1 gene DOID:9006935 Annular Epidermolytic Ichthyosis 2 ISO RGD:1346930 D RGD:7240710 20221214 OMIM 12017497 KRT1 keratin 1 gene DOID:9006935 Annular Epidermolytic Ichthyosis 2 ISO RGD:1346930 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ichthyosis, annular epidermolytic, 2 PMID:10053007|PMID:15214894|PMID:22250628|PMID:25741868|PMID:28492532|PMID:30152556 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:0014667 disease of metabolism ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19142110 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:10763 hypertension no_association ISO RGD:734107 D RGD:9068941 20200609 RGD DNA:polymorphism: :g.102T>C PMID:15659047|REF_RGD_ID:1624371 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:10763 hypertension susceptibility ISO RGD:734107 D RGD:9068941 20200609 RGD DNA:polymorphism: :102T>C PMID:11378836|REF_RGD_ID:1624375 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:10933 obsessive-compulsive disorder ISO RGD:734107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obsessive-compulsive disorder, susceptibility to PMID:12476319|PMID:15364038|PMID:9635956 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:10933 obsessive-compulsive disorder susceptibility ISO RGD:734107 D RGD:7240710 20230517 OMIM 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:12849 autistic disorder ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17280648 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:13948 bladder neck obstruction ISO RGD:61800 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:23344575|REF_RGD_ID:7257660 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:1470 major depressive disorder susceptibility ISO RGD:734107 D RGD:7240710 20230517 OMIM 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:1561 cognitive disorder ISO RGD:734107 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:29294249 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:1574 alcohol use disorder susceptibility ISO RGD:734107 D RGD:7240710 20230517 OMIM 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:2468 psychotic disorder ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:2841 asthma ISO RGD:734107 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:25322896 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22048642 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:3312 bipolar disorder ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:4195 hyperglycemia ISO RGD:61800 D RGD:9068941 20200609 RGD PMID:9128844|REF_RGD_ID:1624376 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:4989 pancreatitis ISO RGD:61800 D RGD:9068941 20200609 RGD PMID:16183055|REF_RGD_ID:1624393 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:5419 schizophrenia ISO RGD:734107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia, susceptibility to PMID:8622505|PMID:9130948 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:5419 schizophrenia susceptibility ISO RGD:734107 D RGD:7240710 20230517 OMIM 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:6000 congestive heart failure ISO RGD:61800 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:16002744|REF_RGD_ID:1600503 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:630 genetic disease ISO RGD:734107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:6364 migraine ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12482207 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:679 basal ganglia disease ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18480698 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:8689 anorexia nervosa susceptibility ISO RGD:734107 D RGD:7240710 20230517 OMIM 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9000972 Fever ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19879056 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9002165 Diabetic Nephropathies ISO RGD:61800 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; PMID:18175064|REF_RGD_ID:7257686 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9002165 Diabetic Nephropathies ISO RGD:734107 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus Type 2; PMID:12213354|REF_RGD_ID:7257687 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9002211 Hyperalgesia ISO RGD:61800 D RGD:9068941 20200609 RGD associated with Diabetic neuropathies; PMID:20531396|REF_RGD_ID:7257680 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9002211 Hyperalgesia ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17888573|PMID:18930597 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9002362 Hyperkinesis ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16300424|PMID:19347958 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9002669 Hypoxia ISO RGD:61800 D RGD:9068941 20200609 RGD PMID:16362404|REF_RGD_ID:1624392 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9002916 Hyperphagia ISO RGD:61800 D RGD:9068941 20200609 RGD PMID:12392096|REF_RGD_ID:1624374 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9003126 Hallucinations ISO RGD:734107 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:29748632 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9005632 Cocaine-Related Disorders ISO RGD:734107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cocaine-Related Disorders PMID:12476319|PMID:15364038|PMID:9635956 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61800 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:21521772|REF_RGD_ID:5135278 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9007692 Insulin Resistance ISO RGD:734107 D RGD:9068941 20200609 RGD associated with Peripheral Vascular Diseases PMID:17062970|REF_RGD_ID:1624367 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9007923 Back Pain ISO RGD:61800 D RGD:9068941 20200609 RGD PMID:17268262|REF_RGD_ID:1624379 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9008023 Memory Disorders ISO RGD:734107 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:29294249 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9008675 Dyskinesias ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11526996 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9970 obesity ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17097612 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9970 obesity no_association ISO RGD:734107 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-1438G>A PMID:16491645|REF_RGD_ID:1624369 12017509 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9970 obesity susceptibility ISO RGD:734107 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-1438G>A PMID:16328014|REF_RGD_ID:1624370 12017519 AKAP7 A-kinase anchoring protein 7 gene DOID:303 substance-related disorder ISO RGD:1350760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12017519 AKAP7 A-kinase anchoring protein 7 gene DOID:630 genetic disease ISO RGD:1350760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12017539 ARPC3 actin related protein 2/3 complex subunit 3 gene DOID:14330 Parkinson's disease treatment ISO RGD:1311985 D RGD:9068941 20200609 RGD PMID:20713051|REF_RGD_ID:11049454 12017539 ARPC3 actin related protein 2/3 complex subunit 3 gene DOID:9351 diabetes mellitus ISO RGD:1323728 D RGD:9068941 20200609 RGD associated with Obesity, Morbid;mRNA:decreased expression:omentum, adipose tissue (human) PMID:26504501|REF_RGD_ID:11049459 12017554 RGS10 regulator of G protein signaling 10 gene DOID:11206 opioid abuse ISO RGD:3562 D RGD:9068941 20200609 RGD PMID:22056472|REF_RGD_ID:13524518 12017554 RGS10 regulator of G protein signaling 10 gene DOID:630 genetic disease ISO RGD:737086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12017554 RGS10 regulator of G protein signaling 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12017554 RGS10 regulator of G protein signaling 10 gene DOID:9007090 Experimental Seizures ISO RGD:3562 D RGD:9068941 20200609 RGD PMID:12358788|REF_RGD_ID:13524540 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:0050902 medulloblastoma ISO RGD:736254 D RGD:7240710 20180130 OMIM 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:0050902 medulloblastoma ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:10644434|PMID:10660329|PMID:10790213|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:12065746|PMID:12373604|PMID:12655567|PMID:12845657|PMID:12955716|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15024741|PMID:15070707|PMID:15131399|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15800311|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16912212|PMID:16920162|PMID:17063270|PMID:17148771|PMID:17301269|PMID:17513806|PMID:17688236|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18703817|PMID:18704680|PMID:19016756|PMID:19241424|PMID:19491284|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21205087|PMID:21324516|PMID:21520273|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21913181|PMID:21952622|PMID:22006311|PMID:22009639|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22923021|PMID:23096105|PMID:23199084|PMID:23318356|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23725378|PMID:23767878|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24504028|PMID:24528374|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25330149|PMID:25382762|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26287763|PMID:26295337|PMID:26360800|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26657402|PMID:26681312|PMID:26689913|PMID:26834852|PMID:26845104|PMID:27153395|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27831900|PMID:27836010|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28724667|PMID:28831036|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28993434|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29446198|PMID:29478780|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29575201|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29907814|PMID:29909963|PMID:29915322|PMID:30078507|PMID:30093976|PMID:30122538|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30630528|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30972954|PMID:31112363|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31411802|PMID:31447099|PMID:31589614|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31911673|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32098980|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32853339|PMID:32875559|PMID:32885271|PMID:33087929|PMID:33372952|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33608381|PMID:33918338|PMID:34008015|PMID:34399810|PMID:34567246|PMID:35535697|PMID:36988593|PMID:8589730|PMID:8673090|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:0060074 ductal carcinoma in situ onset ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:missense mutation: :5972C>T PMID:16280055|REF_RGD_ID:2289048 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:0060074 ductal carcinoma in situ treatment ISO RGD:2219 D RGD:9068941 20210611 RGD PMID:25861310|REF_RGD_ID:127284854 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:0060873 isolated growth hormone deficiency type IA ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Growth hormone deficiency, isolated autosomal recessive PMID:24389050|PMID:25558065 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:0080171 esophageal atresia/tracheoesophageal fistula ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula PMID:11179017|PMID:11307153|PMID:11597388|PMID:15070707|PMID:15340362|PMID:15382066|PMID:16168118|PMID:16683254|PMID:17148771|PMID:17972171|PMID:18042939|PMID:19863560|PMID:20104584|PMID:20694749|PMID:20736950|PMID:21120943|PMID:21324516|PMID:23199084|PMID:23318356|PMID:23621881|PMID:24033266|PMID:24055113|PMID:24156927|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26295337|PMID:26467025|PMID:27741520|PMID:28008555|PMID:28294317|PMID:28423363|PMID:28492532|PMID:28724667|PMID:29161300|PMID:29339979|PMID:29360161|PMID:29446198|PMID:29478780|PMID:29907814|PMID:29909963|PMID:30274973|PMID:30702160|PMID:30720243|PMID:30787465|PMID:31174498|PMID:31447099|PMID:31825140|PMID:31837001|PMID:31957001|PMID:32029870|PMID:32101877|PMID:32190957|PMID:32318955|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32885271|PMID:33087929|PMID:33461583|PMID:33471991|PMID:34399810|PMID:8673090|PMID:9150172|PMID:9667259|PMID:9792861 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:0080199 colorectal carcinoma ISO RGD:736254 D RGD:9068941 20210521 RGD PMID:11497291|REF_RGD_ID:126925969 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:0080600 COVID-19 ISO RGD:736254 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:11802209|PMID:12601471|PMID:15290653|PMID:16683254|PMID:17026620|PMID:17924331|PMID:17997147|PMID:18060494|PMID:18593900|PMID:18607349|PMID:18951461|PMID:21990134|PMID:22505045|PMID:22711857|PMID:24052750|PMID:24323938|PMID:24549055|PMID:25639900|PMID:25741868|PMID:25863477|PMID:26467025|PMID:26633542|PMID:27276934|PMID:27352968|PMID:28492532|PMID:28724667|PMID:29084914|PMID:29161300|PMID:29339979|PMID:29394989|PMID:29446198|PMID:29753700|PMID:29875428|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29997359|PMID:30441849|PMID:30630528|PMID:30716324|PMID:30720243|PMID:31409081|PMID:31658756|PMID:31753525|PMID:32393813|PMID:32482800|PMID:32719484|PMID:32939053|PMID:33293522|PMID:33753322|PMID:35260348|PMID:35438911 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:0111089 Fanconi anemia complementation group D1 ISO RGD:736254 D RGD:7240710 20180130 OMIM 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:0111089 Fanconi anemia complementation group D1 ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group D1 PMID:10188893|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10486320|PMID:10498392|PMID:10551859|PMID:10570174|PMID:10644434|PMID:10660329|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10882858|PMID:10923033|PMID:10978364|PMID:11030417|PMID:11030418|PMID:11062481|PMID:11106241|PMID:11149425|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11241844|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11447276|PMID:11466700|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11802209|PMID:11843247|PMID:11857748|PMID:11873550|PMID:11896095|PMID:11920621|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:12065746|PMID:12097290|PMID:12100744|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12402332|PMID:12442171|PMID:12442265|PMID:12442274|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12624724|PMID:12655567|PMID:12670525|PMID:12684407|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12845657|PMID:12920083|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14517958|PMID:14555511|PMID:14559878|PMID:14576434|PMID:14647210|PMID:14647438|PMID:14670928|PMID:14732925|PMID:14973102|PMID:15004464|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15235023|PMID:15290653|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15533909|PMID:15617999|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15744044|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15918047|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16047333|PMID:16115142|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16234499|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16550498|PMID:16683254|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16949048|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17333343|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17576681|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17657584|PMID:17688236|PMID:17724471|PMID:17767707|PMID:17851763|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18092194|PMID:18284688|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:1843150|PMID:18431501|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18593900|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18703817|PMID:18704680|PMID:18724707|PMID:18779604|PMID:18819001|PMID:18824701|PMID:18844490|PMID:18951449|PMID:18951461|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19530235|PMID:19540122|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19747923|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19861517|PMID:19863560|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19967274|PMID:20033483|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20195775|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20380699|PMID:20589654|PMID:20608899|PMID:20614180|PMID:20616022|PMID:20683152|PMID:20694749|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20887823|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21147080|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:0111089 Fanconi anemia complementation group D1 ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group D1 PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21548014|PMID:21559243|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21769658|PMID:21789034|PMID:21913181|PMID:21939546|PMID:21952622|PMID:21965345|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22228431|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22638694|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22753899|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22874498|PMID:22875147|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23035815|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23199084|PMID:23231788|PMID:23249957|PMID:23318356|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23767878|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23983145|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24323938|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24618965|PMID:24728189|PMID:24728327|PMID:24737347|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25146914|PMID:25186627|PMID:25203624|PMID:25233892|PMID:25256924|PMID:25330149|PMID:25348012|PMID:25382762|PMID:25395318|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25637381|PMID:25682074|PMID:25737278|PMID:25741868|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25863477|PMID:25896959|PMID:25948282|PMID:25980754|PMID:26026974|PMID:26064523|PMID:26067864|PMID:26155992|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26315209|PMID:26332594|PMID:26360800|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26541979|PMID:26556299|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26724258|PMID:26740091|PMID:26740942|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26787237|PMID:26834852|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26867194|PMID:26898890|PMID:26915939|PMID:26920070|PMID:26968956|PMID:27062684|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165126|PMID:27208206|PMID:27257965|PMID:27273131|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27553368|PMID:27616075|PMID:27628236|PMID:27633797|PMID:27658390|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27831900|PMID:27836010|PMID:27878467|PMID:27907908|PMID:27914478|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28132688|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28364669|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28477318|PMID:28486781|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28640387|PMID:28664449|PMID:28678401|PMID:28687971|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28807866|PMID:28814288|PMID:28831036|PMID:28843361 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:0111089 Fanconi anemia complementation group D1 ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group D1 PMID:28873162|PMID:28915716|PMID:28918466|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28993434|PMID:29021639|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29240602|PMID:2928257|PMID:29288066|PMID:29321669|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29416040|PMID:29433453|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29560538|PMID:29575201|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29667044|PMID:29681614|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29802286|PMID:29854292|PMID:29884841|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29937315|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30014164|PMID:30055349|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30186769|PMID:30199306|PMID:30207912|PMID:30212499|PMID:30254663|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30472649|PMID:30489631|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30606148|PMID:30611917|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30630528|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30742731|PMID:30787465|PMID:30825404|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30972954|PMID:30982232|PMID:3108138|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31294896|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31444830|PMID:31447099|PMID:31454914|PMID:31464824|PMID:31558676|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31782247|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31869745|PMID:31911673|PMID:31924417|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32046981|PMID:32068069|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32123317|PMID:32164353|PMID:32190957|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32365798|PMID:32393398|PMID:32398771|PMID:32438681|PMID:32444794|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32606146|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32772980|PMID:32778078|PMID:32806537|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32984025|PMID:33067490|PMID:33077847|PMID:33078592|PMID:33087929|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33552952|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33643918|PMID:33731496|PMID:33773808|PMID:33868589|PMID:33918338|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34101484|PMID:34196900|PMID:34218100|PMID:34250417|PMID:34308366|PMID:34309133|PMID:34399810|PMID:34503154|PMID:34567246|PMID:34597585|PMID:34645131|PMID:34741701|PMID:35464868|PMID:35535697|PMID:36988593|PMID:4055113|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9145676|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9536098|PMID:9667259|PMID:9758598|PMID:9761393|PMID:9771877|PMID:9792861|PMID:9840533|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:0111685 hereditary mixed polyposis syndrome 1 ISO RGD:736254 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:10283 prostate cancer ISO RGD:736254 D RGD:7240710 20180418 OMIM 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:10283 prostate cancer ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer PMID:1|PMID:10644434|PMID:10660329|PMID:10717622|PMID:10790213|PMID:10978364|PMID:11149425|PMID:11170288|PMID:11179017|PMID:11267991|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11597388|PMID:11802209|PMID:11812938|PMID:11843247|PMID:11857748|PMID:11938448|PMID:12065746|PMID:12373604|PMID:12414830|PMID:12474142|PMID:12569143|PMID:12655567|PMID:12672316|PMID:12845657|PMID:12872265|PMID:12955716|PMID:14559878|PMID:14647210|PMID:14670928|PMID:14973102|PMID:15024741|PMID:15070707|PMID:15131399|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15728167|PMID:15876480|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16539696|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16826315|PMID:16905680|PMID:16912212|PMID:16920162|PMID:17063270|PMID:17148771|PMID:17301269|PMID:17513806|PMID:17688236|PMID:17925560|PMID:17972171|PMID:17997147|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18627636|PMID:18703817|PMID:18704680|PMID:18824701|PMID:19016756|PMID:19043619|PMID:19241424|PMID:19491284|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21156238|PMID:21205087|PMID:21232165|PMID:21324516|PMID:21520273|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21702907|PMID:21709188|PMID:21913181|PMID:21952622|PMID:22006311|PMID:22009639|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22711857|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22923021|PMID:23096105|PMID:23108138|PMID:23199084|PMID:23318356|PMID:23328489|PMID:23397983|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23635950|PMID:23725378|PMID:23767878|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24323938|PMID:24448499|PMID:24504028|PMID:24528374|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25330149|PMID:25366421|PMID:25382762|PMID:25395318|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26219728|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26350514|PMID:26360800|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26657402|PMID:26681312|PMID:26689913|PMID:26834852|PMID:26845104|PMID:27153395|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27406733|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27831900|PMID:27836010|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28222693|PMID:28277317|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28651617|PMID:28687356|PMID:28724667|PMID:28831036|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28993434|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29321669|PMID:29337092|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29394989|PMID:29446198|PMID:29478780|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29575201|PMID:29625052|PMID:29684080|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29945567|PMID:30078507|PMID:30093976|PMID:30122538|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30613824|PMID:30630528|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30972954|PMID:31112363|PMID:31131967|PMID:31159747|PMID:31174498|PMID:31209999|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31411802|PMID:31447099|PMID:31589614|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31911673|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32098980|PMID:32101877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:10283 prostate cancer ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer PMID:32164353|PMID:32190957|PMID:32295079|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32438681|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32853339|PMID:32875559|PMID:32885271|PMID:33087929|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33608381|PMID:33891299|PMID:33918338|PMID:34008015|PMID:34399810|PMID:34445631|PMID:34567246|PMID:34917121|PMID:35472165|PMID:35535697|PMID:36988593|PMID:8524414|PMID:8589730|PMID:8673090|PMID:8988179|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:10283 prostate cancer disease_progression ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:mutation PMID:18182994|REF_RGD_ID:2289042 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:10534 stomach cancer ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10227398|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10790213|PMID:10923033|PMID:10978364|PMID:11030418|PMID:11039575|PMID:11149425|PMID:11158174|PMID:11179017|PMID:11251181|PMID:11389159|PMID:11400546|PMID:11595708|PMID:11597388|PMID:11793480|PMID:11802209|PMID:11857748|PMID:11897832|PMID:11920621|PMID:11938448|PMID:12065746|PMID:12142080|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12373604|PMID:12442265|PMID:12774040|PMID:12955716|PMID:14517958|PMID:14559878|PMID:14647210|PMID:14670928|PMID:14973102|PMID:15024741|PMID:15026808|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15168169|PMID:15290653|PMID:15548363|PMID:15645491|PMID:15689453|PMID:15695382|PMID:16199547|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16825431|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:17011978|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17351952|PMID:17513806|PMID:17576681|PMID:17688236|PMID:17851763|PMID:17924331|PMID:17925560|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18424508|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18607349|PMID:18703817|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18951449|PMID:18951461|PMID:19016756|PMID:19043619|PMID:19241424|PMID:19353265|PMID:19471317|PMID:19491284|PMID:19499246|PMID:19563646|PMID:19620486|PMID:19656164|PMID:19656415|PMID:19795481|PMID:19796187|PMID:19805903|PMID:19912264|PMID:20104584|PMID:20215541|PMID:20373018|PMID:20406929|PMID:20513136|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21138478|PMID:21190077|PMID:21233401|PMID:21318380|PMID:21324516|PMID:21465317|PMID:21497495|PMID:21559243|PMID:21598239|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21719596|PMID:21735045|PMID:21952622|PMID:21990134|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22085629|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22382806|PMID:22430266|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22682623|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22866093|PMID:22923021|PMID:22970155|PMID:23035815|PMID:23096105|PMID:23108138|PMID:23199084|PMID:23265383|PMID:23328489|PMID:23348723|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23593081|PMID:23633455|PMID:23683081|PMID:23704984|PMID:23767878|PMID:23929434|PMID:23942203|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24156927|PMID:24249303|PMID:24259538|PMID:24301060|PMID:24312913|PMID:24323938|PMID:24333842|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25146914|PMID:25186627|PMID:25348012|PMID:25382762|PMID:25428789|PMID:25447315|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25525159|PMID:25556971|PMID:25682074|PMID:25741868|PMID:25777348|PMID:25802882|PMID:25863477|PMID:25940717|PMID:25948282|PMID:26023681|PMID:26026974|PMID:26064523|PMID:26183948|PMID:26187060|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26306726|PMID:26360800|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26556299|PMID:26576347|PMID:26586665|PMID:26657402|PMID:26681312|PMID:26681678|PMID:26689913|PMID:26709275|PMID:26757417|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26834852|PMID:26845104|PMID:26848529|PMID:27000661|PMID:27060066|PMID:27062684|PMID:27153395|PMID:27157322|PMID:27257965|PMID:27271530|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27914478|PMID:28008555|PMID:28039656|PMID:28090007|PMID:28102861|PMID:28111427|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28205045|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28423363|PMID:28477318|PMID:28486781|PMID:28492532|PMID:28541631|PMID:28655807|PMID:28657667|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28782087|PMID:28802053|PMID:28825054|PMID:28825143|PMID:28831036|PMID:28857155|PMID:28993434|PMID:29020732 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:10534 stomach cancer ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29575201|PMID:29580235|PMID:29625052|PMID:29673794|PMID:29681614|PMID:29707112|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29884841|PMID:29907814|PMID:29909963|PMID:29922827|PMID:29988080|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30199306|PMID:30203341|PMID:30217213|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30415210|PMID:30441849|PMID:30472649|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30613976|PMID:30630528|PMID:30652428|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30792206|PMID:30875412|PMID:30883759|PMID:31090900|PMID:31112363|PMID:31131967|PMID:31143373|PMID:31159747|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31331294|PMID:31343793|PMID:31360904|PMID:31396961|PMID:31411802|PMID:31432501|PMID:31447099|PMID:31454914|PMID:31497750|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31666926|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32039725|PMID:32072338|PMID:32098980|PMID:32101877|PMID:32132887|PMID:32164353|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32359129|PMID:32365798|PMID:32393398|PMID:32444794|PMID:32467295|PMID:32486089|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32761968|PMID:32778078|PMID:32820175|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32959997|PMID:32980694|PMID:33054725|PMID:33087929|PMID:33151324|PMID:33372952|PMID:33428613|PMID:33471991|PMID:33478551|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33646313|PMID:33891299|PMID:33918338|PMID:34008015|PMID:34046351|PMID:34072659|PMID:34235180|PMID:34399810|PMID:34490083|PMID:34567246|PMID:34645131|PMID:34680387|PMID:35535697|PMID:35731312|PMID:36988593|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8705994|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9150172|PMID:9361038|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1059 intellectual disability ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability syndrome PMID:10969800|PMID:18182994|PMID:20104584|PMID:21895635|PMID:22711857|PMID:22762150|PMID:23569316|PMID:24156927|PMID:24312913|PMID:24764757|PMID:25741868|PMID:26467025|PMID:27616075|PMID:28127413|PMID:28492532|PMID:28767289|PMID:29446198 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1107 esophageal carcinoma ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus PMID:17972177|PMID:18431501|PMID:18627636|PMID:18779604|PMID:21120943|PMID:21218378|PMID:21523855|PMID:22126563|PMID:22293751|PMID:22486713|PMID:23555315|PMID:24055113|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26689913|PMID:28222693|PMID:28492532|PMID:35464868 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1148 polydactyly ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:20104584|PMID:25236687|PMID:25741868|PMID:26295337|PMID:26467025|PMID:28281021|PMID:28492532|PMID:29446198|PMID:30630528|PMID:34196900 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:11994 atrophy of testis ISO RGD:2219 D RGD:9068941 20210219 RGD PMID:12754522|REF_RGD_ID:727990 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:13636 Fanconi anemia ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:11030417|PMID:11185744|PMID:12491487|PMID:12955716|PMID:12960223|PMID:14670928|PMID:15026808|PMID:15070707|PMID:15635067|PMID:15645491|PMID:15876480|PMID:16825431|PMID:17924331|PMID:17972177|PMID:18284688|PMID:18431501|PMID:18627636|PMID:18779604|PMID:19043619|PMID:20104584|PMID:20127978|PMID:20927582|PMID:21120943|PMID:21218378|PMID:21523855|PMID:21548014|PMID:21702907|PMID:21719596|PMID:21990134|PMID:22009639|PMID:22034289|PMID:22126563|PMID:22228431|PMID:22293751|PMID:22486713|PMID:22874498|PMID:23555315|PMID:23704879|PMID:23893897|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24728327|PMID:25085752|PMID:25186627|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25741868|PMID:26295337|PMID:26296701|PMID:26467025|PMID:26689913|PMID:26834852|PMID:26920070|PMID:27376475|PMID:28222693|PMID:28492532|PMID:28831036|PMID:29310832|PMID:29394989|PMID:29446198|PMID:29470806|PMID:29753700|PMID:29884841|PMID:30254663|PMID:31131967|PMID:31911673|PMID:32398771|PMID:35464868 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:13636 Fanconi anemia susceptibility ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:mutation PMID:12065746|REF_RGD_ID:734658 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1380 endometrial cancer ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:deletion, frameshift mutation PMID:10451700|REF_RGD_ID:2296027 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1520 colon carcinoma ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:11030418|PMID:12491487|PMID:15744044|PMID:15937982|PMID:15983021|PMID:16758124|PMID:20167696|PMID:21523855|PMID:22034289|PMID:24504028|PMID:24728327|PMID:24814045|PMID:25058500|PMID:25348012|PMID:25503501|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27165003|PMID:28223274|PMID:28492532|PMID:28814288|PMID:29061375|PMID:29394989|PMID:29849630|PMID:29881398|PMID:29884841|PMID:30055349|PMID:30254663|PMID:30287823|PMID:30374176|PMID:30883759|PMID:32123317|PMID:33233347|PMID:33471991|PMID:33609447 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:7240710 20180711 OMIM 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10359546|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10486320|PMID:10506595|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10717622|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11102977|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11504767|PMID:11556836|PMID:11595708|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11897832|PMID:11920621|PMID:11929857|PMID:11972384|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12161607|PMID:12181777|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12414830|PMID:12442274|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12920083|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520696|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16489001|PMID:16539696|PMID:16550498|PMID:16644204|PMID:16683254|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17576681|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17826769|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18097605|PMID:18176857|PMID:18182994|PMID:18256760|PMID:18284688|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18821011|PMID:18824701|PMID:18855126|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19563646|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19795481|PMID:19861517|PMID:19863560|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20201734|PMID:20215541|PMID:20223018|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899|PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20858050|PMID:20859677|PMID:20927582 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25925381|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225819|PMID:27257965|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27561088|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:28008555|PMID:28111427|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28779219|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28947987|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29053726|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30128899|PMID:30199306|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31191615|PMID:31209999|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31396961|PMID:31409081|PMID:31422574|PMID:31447099|PMID:3146935|PMID:31528241|PMID:31658756|PMID:31742824|PMID:31753525|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31954625|PMID:31957001|PMID:32114502|PMID:32123317|PMID:32211327|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32380732|PMID:32393813|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32599251|PMID:32658311|PMID:32806537|PMID:32812259|PMID:32885271|PMID:32918181|PMID:32939053|PMID:33067490|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33428613|PMID:33471991|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33868589|PMID:33875706|PMID:33978741|PMID:3413277|PMID:34242281|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225819|PMID:27257965|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27561088|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:28008555|PMID:28111427|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28779219|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28947987|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29053726|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30128899|PMID:30199306|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31191615|PMID:31209999|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31396961|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31454914|PMID:3146935|PMID:31528241|PMID:31658756|PMID:31742824|PMID:31753525|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31954625|PMID:31957001|PMID:32114502|PMID:32123317|PMID:32211327|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32380732|PMID:32393813|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32599251|PMID:32658311|PMID:32806537|PMID:32812259|PMID:32885271|PMID:32918181|PMID:32939053|PMID:33067490|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33428613|PMID:33471991|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33868589|PMID:33875706|PMID:33978741|PMID:3413277|PMID:34242281|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10359546|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10486320|PMID:10506595|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10717622|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11102977|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11504767|PMID:11556836|PMID:11595708|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11897832|PMID:11920621|PMID:11929857|PMID:11972384|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12414830|PMID:12442274|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12920083|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520696|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16489001|PMID:16539696|PMID:16550498|PMID:16644204|PMID:16683254|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17576681|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17826769|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18176857|PMID:18182994|PMID:18256760|PMID:18284688|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18821011|PMID:18824701|PMID:18855126|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19563646|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19795481|PMID:19861517|PMID:19863560|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20201734|PMID:20215541|PMID:20223018|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899|PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20858050|PMID:20859677|PMID:20927582 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25802882|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25925381|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740942|PMID:26757417 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:28008555|PMID:28111427|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29053726|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30128899|PMID:30199306|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30702160|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31191615|PMID:31209999|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31396961|PMID:31409081|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31454914|PMID:3146935|PMID:31528241|PMID:31658756|PMID:31742824|PMID:31753525|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31948886|PMID:31954625|PMID:31957001|PMID:32098980|PMID:32114502|PMID:32123317|PMID:32211327|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32853339|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32939053|PMID:33054725|PMID:33067490|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33558524 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:33609447|PMID:33643918|PMID:33868589|PMID:33875706|PMID:33978741|PMID:3413277|PMID:34178674|PMID:34242281|PMID:34503154|PMID:35464868|PMID:35535697|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20858050|PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23535825|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23593120|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23717510|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24359602|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24771903|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24852375|PMID:24880342|PMID:24884479|PMID:24916970|PMID:24941967|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25751625|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25793373|PMID:25802882|PMID:25838448|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25919761|PMID:25925381|PMID:25937444|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26264438|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26497743 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, invasive ductal | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10359546|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10486320|PMID:10506595|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10699917|PMID:10717622|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11102977|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11897832|PMID:11920621|PMID:11929857|PMID:11938448|PMID:11972384|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12414830|PMID:12442274|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12815053|PMID:12920083|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520696|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16489001|PMID:16539696|PMID:16550498|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17018160|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17576681|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17826769|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18176857|PMID:18182994|PMID:18256760|PMID:18284688|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18821011|PMID:18824701|PMID:18855126|PMID:18951461|PMID:18955455|PMID:18974781|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19563646|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19795481|PMID:19861517|PMID:19863560|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20201734|PMID:20215541|PMID:20223018|PMID:20301425|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, invasive ductal | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20858050|PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23535825|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23593120|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23717510|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24359602|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24771903|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24852375|PMID:24880342|PMID:24884479|PMID:24916970|PMID:24941967|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25751625|PMID:25777348|PMID:25782689|PMID:25793373|PMID:25802882|PMID:25838448|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25919761|PMID:25925381|PMID:25937444|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26264438|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26455428|PMID:26467025|PMID:26483394 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, invasive ductal | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26497743|PMID:26510858|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27003155|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27074266|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27392074|PMID:27393621|PMID:27406733|PMID:27424552|PMID:27425403|PMID:27428751|PMID:27432226|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27742414|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28152060|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28377418|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28502252|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591191|PMID:28591715|PMID:28604730|PMID:28616458|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29053726|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29136510|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29382703|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29531215|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29688369|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29767749|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30128899|PMID:30199306|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30418626|PMID:30425037|PMID:30425093|PMID:30472649|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30672594|PMID:30675319|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30742731|PMID:30883245|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31060593|PMID:31069257|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, invasive ductal | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31161121|PMID:31173646|PMID:31174203|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263500|PMID:31263571|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31447099|PMID:31454914|PMID:3146935|PMID:31528241|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31753525|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:32002120|PMID:32039725|PMID:32059136|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32104210|PMID:32114502|PMID:32123317|PMID:32206145|PMID:32211327|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32853339|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:33054725|PMID:33067490|PMID:33230308|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33868589|PMID:33875706|PMID:33978741|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34178674|PMID:34242281|PMID:34309133|PMID:34503154|PMID:34597585|PMID:34645131|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35736817|PMID:35753294|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10359546|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10486320|PMID:10506595|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10717622|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11102977|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11504767|PMID:11556836|PMID:11595708|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11897832|PMID:11920621|PMID:11929857|PMID:11938448|PMID:11972384|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12414830|PMID:12442274|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12920083|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520696|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16489001|PMID:16539696|PMID:16550498|PMID:16644204|PMID:16683254|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17576681|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17826769|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18176857|PMID:18182994|PMID:18256760|PMID:18284688|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18821011|PMID:18824701|PMID:18855126|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19563646|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19795481|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20201734|PMID:20215541|PMID:20223018|PMID:20301425|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899|PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:20858050|PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25925381|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26067864|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26552643|PMID:26556299|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26692440|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27003155|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28767289|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30609409|PMID:30612635|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30652428|PMID:30675319|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31060593|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31360904|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31454914|PMID:3146935|PMID:31528241|PMID:31589614 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31658756|PMID:31666926|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:33054725|PMID:33067490|PMID:33087929|PMID:33230308|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34178674|PMID:34218100|PMID:34242281|PMID:34309133|PMID:34399810|PMID:34503154|PMID:34597585|PMID:34645131|PMID:35260348|PMID:35438911|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35736817|PMID:35753294|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10359546|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10486320|PMID:10506595|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10717622|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11102977|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11897832|PMID:11920621|PMID:11929857|PMID:11938448|PMID:11972384|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12414830|PMID:12442274|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12920083|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520696|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16489001|PMID:16539696|PMID:16550498|PMID:16644204|PMID:16683254|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17576681|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17826769|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18176857|PMID:18182994|PMID:18256760|PMID:18284688|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18821011|PMID:18824701|PMID:18855126|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19563646|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19795481|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20201734|PMID:20215541|PMID:20223018|PMID:20301425|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899|PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20858050 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25925381|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26067864|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26552643|PMID:26556299|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27003155|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27561088|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30609409|PMID:30612635|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30652428|PMID:30675319|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31060593|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31360904|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31454914|PMID:3146935 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31528241|PMID:31589614|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:32994724|PMID:33054725|PMID:33067490|PMID:33087929|PMID:33230308|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34178674|PMID:34204722|PMID:34218100|PMID:34242281|PMID:34309133|PMID:34399810|PMID:34503154|PMID:34597585|PMID:34645131|PMID:34717758|PMID:35260348|PMID:35438911|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35736817|PMID:35753294|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31528241|PMID:31589614|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:32994724|PMID:33054725|PMID:33067490|PMID:33087929|PMID:33230308|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34178674|PMID:34204722|PMID:34218100|PMID:34242281|PMID:34309133|PMID:34399810|PMID:34503154|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34717758|PMID:35260348|PMID:35438911|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35736817|PMID:35753294|PMID:36988593|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1614 male breast cancer ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, male PMID:10464631|PMID:17924331|PMID:21952622|PMID:21990134|PMID:22771033|PMID:24323938|PMID:25682074|PMID:25741868|PMID:26689913|PMID:28492532|PMID:29580235|PMID:9654203 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:162 cancer ISO RGD:2219 D RGD:9068941 20210430 RGD PMID:16964288|REF_RGD_ID:1599505 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:736254 D RGD:7240710 20180130 OMIM 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 PMID:10417300|PMID:10464624|PMID:10570174|PMID:10644434|PMID:10660329|PMID:10733239|PMID:10739756|PMID:10790213|PMID:10923033|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11595708|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:11896095|PMID:11920643|PMID:11948123|PMID:12065746|PMID:12097257|PMID:12142080|PMID:12402332|PMID:12473589|PMID:12655567|PMID:12670525|PMID:12845657|PMID:12955716|PMID:14559878|PMID:14576434|PMID:14647438|PMID:14973102|PMID:15024741|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15695382|PMID:15994883|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16920162|PMID:16949048|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17301269|PMID:17591843|PMID:17657584|PMID:17688236|PMID:17899372|PMID:17925560|PMID:17972171|PMID:17972177|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18607349|PMID:18627636|PMID:18704680|PMID:18779604|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19241424|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20380699|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:21120943|PMID:21205087|PMID:21218378|PMID:21324516|PMID:21520273|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21720365|PMID:21913181|PMID:21952622|PMID:22006311|PMID:22009639|PMID:22126563|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22430266|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22703879|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22874498|PMID:22923021|PMID:22970155|PMID:22995991|PMID:23096105|PMID:23199084|PMID:23265383|PMID:23318356|PMID:23341105|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23633455|PMID:23658460|PMID:23725378|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25330149|PMID:25382762|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25737278|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25980754|PMID:26026974|PMID:26064523|PMID:26067864|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26360800|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26556299|PMID:26577449|PMID:26580448|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26757417|PMID:26834852|PMID:26852015|PMID:26867194|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27658390|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27907908|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28179634|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28294317|PMID:28324225|PMID:28351343|PMID:28419251|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28825143|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28961279|PMID:28973083|PMID:28993434|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29240602|PMID:29288066|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29433453|PMID:29439820|PMID:29446198|PMID:29478780|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29625052|PMID:29681614|PMID:29752822|PMID:29753700|PMID:29907814 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 PMID:29909963|PMID:29915322|PMID:29937315|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30039884|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30186769|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30415210|PMID:30489631|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30630528|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30972954|PMID:31090900|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31444830|PMID:31447099|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31948886|PMID:31957001|PMID:32029870|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32211327|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32359129|PMID:32380732|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32521533|PMID:32532514|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32772980|PMID:32853339|PMID:32879886|PMID:32885271|PMID:33077847|PMID:33087929|PMID:33151324|PMID:33372952|PMID:33428613|PMID:33461583|PMID:33471991|PMID:33608381|PMID:33646313|PMID:33918338|PMID:34308366|PMID:34399810|PMID:34567246|PMID:34572941|PMID:35535697|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9758598|PMID:9792861|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 PMID:10417300|PMID:10464624|PMID:10570174|PMID:10644434|PMID:10660329|PMID:10717622|PMID:10733239|PMID:10739756|PMID:10790213|PMID:10923033|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11595708|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:11896095|PMID:11920643|PMID:11948123|PMID:12065746|PMID:12097257|PMID:12142080|PMID:12402332|PMID:12473589|PMID:12655567|PMID:12670525|PMID:12845657|PMID:12872265|PMID:12955716|PMID:14559878|PMID:14576434|PMID:14647438|PMID:14973102|PMID:15024741|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15695382|PMID:15994883|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16920162|PMID:16949048|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17301269|PMID:17591843|PMID:17657584|PMID:17688236|PMID:17899372|PMID:17925560|PMID:17972171|PMID:17972177|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18607349|PMID:18627636|PMID:18704680|PMID:18779604|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19241424|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20380699|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:21120943|PMID:21205087|PMID:21218378|PMID:21324516|PMID:21520273|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21720365|PMID:21913181|PMID:21952622|PMID:22006311|PMID:22009639|PMID:22126563|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22430266|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22703879|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22874498|PMID:22923021|PMID:22970155|PMID:22995991|PMID:23096105|PMID:23199084|PMID:23265383|PMID:23318356|PMID:23341105|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23633455|PMID:23658460|PMID:23725378|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25330149|PMID:25382762|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25737278|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25980754|PMID:26026974|PMID:26064523|PMID:26067864|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26350514|PMID:26360800|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26556299|PMID:26577449|PMID:26580448|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26757417|PMID:26834852|PMID:26852015|PMID:26867194|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27658390|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27907908|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28179634|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28294317|PMID:28324225|PMID:28351343|PMID:28419251|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28825143|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28961279|PMID:28973083|PMID:28993434|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29240602|PMID:29288066|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29433453|PMID:29439820|PMID:29446198|PMID:29478780|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29625052|PMID:29681614 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 PMID:29752822|PMID:29753700|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29937315|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30039884|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30186769|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30415210|PMID:30489631|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30630528|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30972954|PMID:31090900|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31444830|PMID:31447099|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31911673|PMID:31948886|PMID:31957001|PMID:32029870|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32211327|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32359129|PMID:32380732|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32521533|PMID:32532514|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32772980|PMID:32853339|PMID:32879886|PMID:32885271|PMID:33077847|PMID:33087929|PMID:33151324|PMID:33372952|PMID:33428613|PMID:33461583|PMID:33471991|PMID:33608381|PMID:33646313|PMID:33918338|PMID:34308366|PMID:34399810|PMID:34567246|PMID:34572941|PMID:35535697|PMID:36988593|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9758598|PMID:9792861|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1793 pancreatic cancer susceptibility ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:22187320|REF_RGD_ID:9068467 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1798 pancreatic endocrine carcinoma ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neuroendocrine tumor of pancreas PMID:15145354|PMID:22762150|PMID:25741868|PMID:29446198 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1909 melanoma ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Melanoma PMID:25741868|PMID:28492532|PMID:31911673 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1909 melanoma susceptibility ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.N991D(human) PMID:18024013|REF_RGD_ID:9068469 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:1969 cerebral palsy ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:17576681|PMID:19530235|PMID:21548014|PMID:22632462|PMID:23613520|PMID:25525159|PMID:25741868|PMID:26064523|PMID:26467025|PMID:27376475|PMID:28492532|PMID:9536098 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:2154 nephroblastoma ISO RGD:736254 D RGD:7240710 20180130 OMIM 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:2154 nephroblastoma ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic PMID:10644434|PMID:10660329|PMID:10790213|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:12065746|PMID:12373604|PMID:12655567|PMID:12845657|PMID:12955716|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15024741|PMID:15070707|PMID:15131399|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15800311|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16912212|PMID:16920162|PMID:17063270|PMID:17148771|PMID:17301269|PMID:17513806|PMID:17688236|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18703817|PMID:18704680|PMID:19016756|PMID:19241424|PMID:19491284|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21205087|PMID:21324516|PMID:21520273|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21913181|PMID:21952622|PMID:22006311|PMID:22009639|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22923021|PMID:23096105|PMID:23199084|PMID:23318356|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23725378|PMID:23767878|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24504028|PMID:24528374|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25330149|PMID:25382762|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26287763|PMID:26295337|PMID:26360800|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26657402|PMID:26681312|PMID:26689913|PMID:26834852|PMID:26845104|PMID:27153395|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27831900|PMID:27836010|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28724667|PMID:28831036|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28993434|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29446198|PMID:29478780|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29575201|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29907814|PMID:29909963|PMID:29915322|PMID:30078507|PMID:30093976|PMID:30122538|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30630528|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30972954|PMID:31112363|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31411802|PMID:31447099|PMID:31589614|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31911673|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32098980|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32853339|PMID:32875559|PMID:32885271|PMID:33087929|PMID:33372952|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33608381|PMID:33918338|PMID:34008015|PMID:34399810|PMID:34567246|PMID:35535697|PMID:36988593|PMID:8589730|PMID:8673090|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:2154 nephroblastoma susceptibility ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:deletion, point mutations: :886delGT, 4876G>T, IVS7+2T>G PMID:15689453|REF_RGD_ID:2289049 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:2234 focal epilepsy ISO RGD:736254 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:10923033|PMID:18779604|PMID:20104584|PMID:25741868|PMID:26467025|PMID:27425403|PMID:27741520|PMID:28087643|PMID:28492532|PMID:29161300|PMID:29446198|PMID:29907814|PMID:31446535|PMID:34287479 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:2394 ovarian cancer ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:11179017|PMID:14973102|PMID:15070707|PMID:15145354|PMID:15340362|PMID:16168118|PMID:17899372|PMID:17972171|PMID:18042939|PMID:18779604|PMID:19043619|PMID:19499246|PMID:20104584|PMID:20736950|PMID:21120943|PMID:21218378|PMID:22126563|PMID:24055113|PMID:24156927|PMID:24470074|PMID:24728327|PMID:25348012|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25782689|PMID:25980754|PMID:26221963|PMID:26295337|PMID:26402875|PMID:26467025|PMID:26530882|PMID:26757417|PMID:27157322|PMID:27257965|PMID:27658390|PMID:27701467|PMID:27741520|PMID:27907908|PMID:28111427|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28294317|PMID:28351343|PMID:28419251|PMID:28492532|PMID:28664449|PMID:28724667|PMID:28993434|PMID:29161300|PMID:29192238|PMID:29215753|PMID:29240602|PMID:29339979|PMID:29360161|PMID:29394989|PMID:29446198|PMID:29478780|PMID:29681614|PMID:29752822|PMID:29907814|PMID:29909963|PMID:29988080|PMID:30078507|PMID:30287823|PMID:30415210|PMID:30702160|PMID:31174498|PMID:31248605|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31957001|PMID:32101877|PMID:32190957|PMID:32318955|PMID:32444794|PMID:32521533|PMID:32879886|PMID:32885271|PMID:32984025|PMID:33078592|PMID:33309985|PMID:33428613|PMID:33461583|PMID:33471991 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:2394 ovarian cancer ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:11179017|PMID:11597388|PMID:12215251|PMID:12474142|PMID:12684407|PMID:14973102|PMID:15070707|PMID:15145354|PMID:15168169|PMID:15317758|PMID:15340362|PMID:15365993|PMID:16168118|PMID:16261408|PMID:17657584|PMID:17899372|PMID:17972171|PMID:17972177|PMID:18042939|PMID:18607349|PMID:18627636|PMID:18779604|PMID:18824701|PMID:18844490|PMID:19016756|PMID:19043619|PMID:19499246|PMID:19656164|PMID:20104584|PMID:20215541|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21218378|PMID:21520273|PMID:21671020|PMID:21702907|PMID:21952622|PMID:22126563|PMID:22366370|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22703879|PMID:22921312|PMID:23108138|PMID:23231788|PMID:23469205|PMID:23729402|PMID:23983145|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24323938|PMID:24470074|PMID:24489791|PMID:24728327|PMID:24817641|PMID:24884479|PMID:25151137|PMID:25348012|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25980754|PMID:26067864|PMID:26187060|PMID:26221963|PMID:26295337|PMID:26332594|PMID:26402875|PMID:26467025|PMID:26530882|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26848529|PMID:26852015|PMID:27124784|PMID:27157322|PMID:27257965|PMID:27658390|PMID:27701467|PMID:27741520|PMID:27907908|PMID:28111427|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28294317|PMID:28351343|PMID:28419251|PMID:28423363|PMID:28492532|PMID:28664449|PMID:28724667|PMID:28961279|PMID:28993434|PMID:29161300|PMID:29192238|PMID:29215753|PMID:29240602|PMID:29339979|PMID:29360161|PMID:29394989|PMID:29446198|PMID:29478780|PMID:29681614|PMID:29684080|PMID:29752822|PMID:29907814|PMID:29909963|PMID:29988080|PMID:30039884|PMID:30078507|PMID:30286154|PMID:30287823|PMID:30415210|PMID:30613976|PMID:30702160|PMID:30720243|PMID:30787465|PMID:31131967|PMID:31143303|PMID:31174498|PMID:31248605|PMID:31447099|PMID:31721094|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31853058|PMID:31911673|PMID:31957001|PMID:32029870|PMID:32101877|PMID:32190957|PMID:32211327|PMID:32318955|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32623769|PMID:32879886|PMID:32885271|PMID:32984025|PMID:33078592|PMID:33087929|PMID:33309985|PMID:33428613|PMID:33461583|PMID:33471991|PMID:34399810|PMID:8840963|PMID:9150172|PMID:9579822|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:2394 ovarian cancer disease_progression ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:deletion: :6174delT PMID:18165636|REF_RGD_ID:2289046 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:2394 ovarian cancer no_association ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.N372H (rs144848)(human) PMID:18431743|REF_RGD_ID:9068468 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:2871 endometrial carcinoma ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10227398|PMID:10417300|PMID:10433620|PMID:10464624|PMID:10570174|PMID:10595255|PMID:10733239|PMID:10739756|PMID:11267991|PMID:11359068|PMID:11466700|PMID:11597388|PMID:11802209|PMID:11896095|PMID:11920643|PMID:11938448|PMID:12097257|PMID:12402332|PMID:12473589|PMID:12569143|PMID:12672316|PMID:12698193|PMID:12955716|PMID:14559878|PMID:14576434|PMID:15340362|PMID:15695382|PMID:15994883|PMID:16683254|PMID:16825431|PMID:17148771|PMID:17591843|PMID:17850627|PMID:18607349|PMID:19188187|PMID:19530235|PMID:19949876|PMID:20104584|PMID:20216074|PMID:20301425|PMID:20736950|PMID:20859677|PMID:20887823|PMID:21324516|PMID:21614564|PMID:21720365|PMID:22006311|PMID:22009639|PMID:22430266|PMID:22476429|PMID:22703879|PMID:22923021|PMID:23199084|PMID:23341105|PMID:23469205|PMID:23569316|PMID:23633455|PMID:23658460|PMID:24033266|PMID:24156927|PMID:24448499|PMID:24504028|PMID:24728189|PMID:24884479|PMID:24916970|PMID:25036526|PMID:25085752|PMID:25348012|PMID:25395318|PMID:25741868|PMID:25980754|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26219728|PMID:26295337|PMID:26440929|PMID:26467025|PMID:26556299|PMID:26577449|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26867194|PMID:27153395|PMID:27425403|PMID:27433846|PMID:27495310|PMID:27831900|PMID:27836010|PMID:27974047|PMID:27989354|PMID:28492532|PMID:28687356|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28873162|PMID:28993434|PMID:29084914|PMID:29161300|PMID:29288066|PMID:29321669|PMID:29335925|PMID:29339979|PMID:29368341|PMID:29371908|PMID:29433453|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29937315|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30186769|PMID:30267214|PMID:30274973|PMID:30322717|PMID:30489631|PMID:30555256|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30630528|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30787465|PMID:30875412|PMID:30883245|PMID:31090900|PMID:31263054|PMID:31444830|PMID:31447099|PMID:31589614|PMID:31825140|PMID:31911673|PMID:31948886|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32719484|PMID:32853339|PMID:32885271|PMID:32918181|PMID:33077847|PMID:33087929|PMID:33654310|PMID:34308366|PMID:34399810|PMID:8075631|PMID:8524414|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9585608|PMID:9585613|PMID:9758598 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:3007 breast ductal carcinoma ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma PMID:11062481|PMID:11927503|PMID:14555511|PMID:15235023|PMID:17767707|PMID:20135345|PMID:22703879|PMID:24033266|PMID:24323938|PMID:24728327|PMID:25741868|PMID:28492532 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:3008 invasive ductal carcinoma ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Infiltrating duct carcinoma of breast PMID:14973102|PMID:15145354|PMID:17899372|PMID:18627636|PMID:18779604|PMID:19043619|PMID:19499246|PMID:21218378|PMID:22126563|PMID:22476429|PMID:24470074|PMID:24728327|PMID:25741868|PMID:25782689|PMID:25980754|PMID:26221963|PMID:26402875|PMID:26467025|PMID:26530882|PMID:26757417|PMID:27157322|PMID:27257965|PMID:27658390|PMID:27701467|PMID:27907908|PMID:28111427|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28351343|PMID:28419251|PMID:28492532|PMID:28993434|PMID:29192238|PMID:29240602|PMID:29394989|PMID:29681614|PMID:29752822|PMID:29988080|PMID:30287823|PMID:30415210|PMID:30702160|PMID:31825140|PMID:31837001|PMID:31911673|PMID:32444794|PMID:32879886|PMID:33428613|PMID:33471991 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:3070 high grade glioma ISO RGD:736254 D RGD:7240710 20180130 OMIM 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:3070 high grade glioma ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 3 PMID:10644434|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11400546|PMID:11802209|PMID:12373604|PMID:12655567|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15070707|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15800311|PMID:16168118|PMID:16168123|PMID:16389418|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16912212|PMID:17063270|PMID:17148771|PMID:17513806|PMID:17688236|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18465347|PMID:18703817|PMID:19016756|PMID:19491284|PMID:19654294|PMID:19863560|PMID:19949876|PMID:19967274|PMID:20104584|PMID:20167696|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21205087|PMID:21324516|PMID:21520273|PMID:21709188|PMID:21913181|PMID:22006311|PMID:22009639|PMID:22217648|PMID:22535016|PMID:22666503|PMID:22762150|PMID:22798144|PMID:22923021|PMID:23096105|PMID:23199084|PMID:23318356|PMID:23415752|PMID:23469205|PMID:23569316|PMID:23621881|PMID:23767878|PMID:24033266|PMID:24055113|PMID:24156927|PMID:24312913|PMID:24504028|PMID:24556621|PMID:24728189|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26287763|PMID:26295337|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26657402|PMID:26681312|PMID:26845104|PMID:27153395|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27469594|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27831900|PMID:28008555|PMID:28039656|PMID:28294317|PMID:28324225|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28724667|PMID:28915716|PMID:28918466|PMID:28973083|PMID:29088781|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29433453|PMID:29446198|PMID:29478780|PMID:29492181|PMID:29753700|PMID:29907814|PMID:29909963|PMID:30274973|PMID:30287823|PMID:30350268|PMID:30606148|PMID:31209999|PMID:32295079|PMID:8673090|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:3070 high grade glioma ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 3 PMID:10644434|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11400546|PMID:11802209|PMID:12065746|PMID:12373604|PMID:12655567|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15070707|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15800311|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16389418|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16912212|PMID:16920162|PMID:17063270|PMID:17148771|PMID:17513806|PMID:17688236|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18465347|PMID:18703817|PMID:19016756|PMID:19491284|PMID:19654294|PMID:19863560|PMID:19967274|PMID:20104584|PMID:20167696|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21205087|PMID:21324516|PMID:21520273|PMID:21709188|PMID:21913181|PMID:22006311|PMID:22009639|PMID:22217648|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22762150|PMID:22798144|PMID:22923021|PMID:23096105|PMID:23199084|PMID:23318356|PMID:23415752|PMID:23469205|PMID:23569316|PMID:23621881|PMID:23767878|PMID:24033266|PMID:24055113|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24504028|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25382762|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26287763|PMID:26295337|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26657402|PMID:26681312|PMID:26834852|PMID:26845104|PMID:27153395|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27469594|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27831900|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28294317|PMID:28324225|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28724667|PMID:28915716|PMID:28918466|PMID:28973083|PMID:29088781|PMID:29161300|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29446198|PMID:29478780|PMID:29492181|PMID:29753700|PMID:29907814|PMID:29909963|PMID:30078507|PMID:30274973|PMID:30287823|PMID:30350268|PMID:30606148|PMID:31112363|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31331294|PMID:31837001|PMID:31957001|PMID:32098980|PMID:32101877|PMID:32190957|PMID:32295079|PMID:32318955|PMID:32521533|PMID:32875559|PMID:32885271|PMID:33461583|PMID:33471991|PMID:33478551|PMID:34567246|PMID:35535697|PMID:8673090|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:3070 high grade glioma ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 3 PMID:10644434|PMID:10660329|PMID:10790213|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:12065746|PMID:12373604|PMID:12655567|PMID:12845657|PMID:12955716|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15024741|PMID:15070707|PMID:15131399|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15800311|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16912212|PMID:16920162|PMID:17063270|PMID:17148771|PMID:17301269|PMID:17513806|PMID:17688236|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18703817|PMID:18704680|PMID:19016756|PMID:19241424|PMID:19491284|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21205087|PMID:21324516|PMID:21520273|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21913181|PMID:21952622|PMID:22006311|PMID:22009639|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22923021|PMID:23096105|PMID:23199084|PMID:23318356|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23725378|PMID:23767878|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24504028|PMID:24528374|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25330149|PMID:25382762|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26287763|PMID:26295337|PMID:26360800|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26657402|PMID:26681312|PMID:26689913|PMID:26834852|PMID:26845104|PMID:27153395|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27831900|PMID:27836010|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28724667|PMID:28831036|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28993434|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29446198|PMID:29478780|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29575201|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29907814|PMID:29909963|PMID:29915322|PMID:30078507|PMID:30093976|PMID:30122538|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30630528|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30972954|PMID:31112363|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31411802|PMID:31447099|PMID:31589614|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31911673|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32098980|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32853339|PMID:32875559|PMID:32885271|PMID:33087929|PMID:33372952|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33608381|PMID:33918338|PMID:34008015|PMID:34399810|PMID:34567246|PMID:35535697|PMID:36988593|PMID:8589730|PMID:8673090|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:3168 squamous cell neoplasm ISO RGD:736254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24880342 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:3247 rhabdomyosarcoma ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:10188893|PMID:10790213|PMID:11802209|PMID:11920621|PMID:12442265|PMID:12774040|PMID:15024741|PMID:15645491|PMID:15800615|PMID:16234499|PMID:16683254|PMID:16912212|PMID:17688236|PMID:18465347|PMID:18489799|PMID:19016756|PMID:19563646|PMID:19620486|PMID:20104584|PMID:21318380|PMID:21324516|PMID:21465317|PMID:21520333|PMID:21643751|PMID:21702907|PMID:21719596|PMID:21952622|PMID:22006311|PMID:22752604|PMID:22762150|PMID:22798144|PMID:23199084|PMID:23479189|PMID:23531862|PMID:24033266|PMID:24156927|PMID:24249303|PMID:24259538|PMID:24504028|PMID:24528374|PMID:24578176|PMID:24728189|PMID:24814045|PMID:25186627|PMID:25525159|PMID:25741868|PMID:25863477|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26360800|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26787237|PMID:27062684|PMID:27153395|PMID:27157322|PMID:27836010|PMID:28176296|PMID:28324225|PMID:28492532|PMID:28724667|PMID:28831036|PMID:28993434|PMID:29084914|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29368341|PMID:29446198|PMID:29489754|PMID:29506128|PMID:29625052|PMID:29752822|PMID:29907814|PMID:30274973|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30548481|PMID:30612635|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30787465|PMID:31263571|PMID:31360904|PMID:31447099|PMID:31589614|PMID:31825140|PMID:32164353|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32719484|PMID:32853339|PMID:32885271|PMID:33087929|PMID:33372952|PMID:34399810|PMID:36988593|PMID:8589730 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:3302 chordoma ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chordoma PMID:10923033|PMID:11304778|PMID:11873550|PMID:11920621|PMID:12100744|PMID:12161607|PMID:12228710|PMID:12442265|PMID:12442273|PMID:12774040|PMID:15172753|PMID:15645491|PMID:15800311|PMID:15944772|PMID:16205630|PMID:16683254|PMID:17018160|PMID:17924331|PMID:17997147|PMID:18256760|PMID:18451181|PMID:19043619|PMID:19200354|PMID:19563646|PMID:19656415|PMID:20104584|PMID:21120943|PMID:21520333|PMID:21638052|PMID:21702907|PMID:21719596|PMID:21952622|PMID:21990134|PMID:22194698|PMID:22366370|PMID:22476429|PMID:22703879|PMID:22798144|PMID:22811390|PMID:23108138|PMID:24033266|PMID:24212087|PMID:24249303|PMID:24259538|PMID:24323938|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24556621|PMID:24728189|PMID:24728327|PMID:25447315|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25863477|PMID:25948282|PMID:26109977|PMID:26145171|PMID:26287763|PMID:26467025|PMID:27062684|PMID:27153395|PMID:27376475|PMID:27616075|PMID:28492532|PMID:28945843|PMID:29348823|PMID:29394989|PMID:29446198|PMID:29785135|PMID:29884841|PMID:29988080|PMID:30032850|PMID:30309222|PMID:30447919|PMID:30702160|PMID:31060523|PMID:31409081|PMID:31742824|PMID:31843900|PMID:31911673|PMID:32885271|PMID:33293522|PMID:33372952|PMID:33471991|PMID:33609447|PMID:34350294|PMID:36988593 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:3347 osteosarcoma ISO RGD:2219 D RGD:9068941 20200609 RGD DNA:nonsense mutation PMID:16964288|REF_RGD_ID:1599505 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:3457 invasive lobular carcinoma ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Invasive lobular breast carcinoma PMID:14973102|PMID:25741868|PMID:27257965|PMID:28222693|PMID:28492532|PMID:28664449|PMID:31911673 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:3459 breast carcinoma ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:1|PMID:10449599|PMID:10550133|PMID:10638982|PMID:10660329|PMID:10699917|PMID:10790213|PMID:10807692|PMID:10978364|PMID:11044354|PMID:11062481|PMID:11179017|PMID:11556836|PMID:11597388|PMID:11802209|PMID:11897832|PMID:11927503|PMID:12112655|PMID:12142080|PMID:12655560|PMID:14555511|PMID:15010701|PMID:15024741|PMID:15070707|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15217494|PMID:15235023|PMID:15571962|PMID:15689453|PMID:15887246|PMID:16168118|PMID:16170354|PMID:16199547|PMID:16418514|PMID:16683254|PMID:17011978|PMID:17026620|PMID:17063270|PMID:17148771|PMID:17565157|PMID:17576681|PMID:17591843|PMID:17767707|PMID:17826769|PMID:17924331|PMID:17997147|PMID:18042939|PMID:18375895|PMID:18393245|PMID:18465347|PMID:18489799|PMID:18593900|PMID:18597679|PMID:18607349|PMID:18821011|PMID:18824701|PMID:19016756|PMID:19478387|PMID:19620486|PMID:19656164|PMID:20104584|PMID:20135345|PMID:20373018|PMID:20406929|PMID:20589654|PMID:20960228|PMID:21138478|PMID:21156238|PMID:21232165|PMID:21324516|PMID:21520333|PMID:21548014|PMID:21643751|PMID:21913181|PMID:219131812|PMID:21952622|PMID:21990134|PMID:22006311|PMID:22009639|PMID:22144684|PMID:22217648|PMID:22228431|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22923021|PMID:22970155|PMID:23035815|PMID:23199084|PMID:23397983|PMID:23451180|PMID:23479189|PMID:23683081|PMID:23857704|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24156927|PMID:24249303|PMID:24323938|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24728327|PMID:24814045|PMID:24916970|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25186627|PMID:25366421|PMID:25382762|PMID:25452441|PMID:25480878|PMID:25525159|PMID:25556971|PMID:25682074|PMID:25741868|PMID:25802882|PMID:25863477|PMID:25940717|PMID:25948282|PMID:26026974|PMID:26183948|PMID:26187060|PMID:26295337|PMID:26360800|PMID:26439132|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26848151|PMID:27000661|PMID:27060066|PMID:27062684|PMID:27153395|PMID:27165220|PMID:27257965|PMID:27271530|PMID:27393621|PMID:27425403|PMID:27433846|PMID:27478808|PMID:27537391|PMID:27741520|PMID:27836010|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28135145|PMID:28176296|PMID:28324225|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28692638|PMID:28724667|PMID:28726808|PMID:28825054|PMID:28831036|PMID:28947987|PMID:28993434|PMID:29084914|PMID:29161300|PMID:29176636|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29360550|PMID:29433453|PMID:29446198|PMID:29483665|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29681614|PMID:29752822|PMID:29907814|PMID:29909963|PMID:29945567|PMID:30078507|PMID:30093976|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30548481|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30787465|PMID:30875412|PMID:31090900|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31447099|PMID:31589614|PMID:31706072|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31957001|PMID:32029870|PMID:32072338|PMID:32164353|PMID:32295079|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32359129|PMID:32393398|PMID:32427313|PMID:32467295|PMID:32581362|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32776218|PMID:32846166|PMID:32853339|PMID:32885271|PMID:32959997|PMID:33087929|PMID:33151324|PMID:33372952|PMID:33471991|PMID:33558524|PMID:33608381|PMID:33646313|PMID:33891299|PMID:33918338|PMID:34399810|PMID:34445631|PMID:36988593|PMID:8589730|PMID:8665505|PMID:8673089|PMID:8706004|PMID:8988179|PMID:9042907|PMID:9150150|PMID:9150155|PMID:9150172|PMID:9536098|PMID:9585613|PMID:9634522|PMID:9643283|PMID:9667259|PMID:9766673|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:nonsense mutation: :p.K3326X (human) PMID:21279724|REF_RGD_ID:11344913 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:3883 Lynch syndrome ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:25741868|PMID:28492532 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:4905 pancreatic carcinoma ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:10699917|PMID:10923033|PMID:11039575|PMID:11179017|PMID:11207042|PMID:11251181|PMID:11938448|PMID:12181777|PMID:12204006|PMID:14559878|PMID:14973102|PMID:15024741|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15290653|PMID:15382066|PMID:15548363|PMID:15689453|PMID:15695382|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16905680|PMID:16978908|PMID:17100994|PMID:17262179|PMID:17576681|PMID:18042939|PMID:18182994|PMID:18451181|PMID:18489799|PMID:18497862|PMID:18607349|PMID:18819001|PMID:18951461|PMID:19043619|PMID:19491284|PMID:19499246|PMID:19656164|PMID:19796187|PMID:19912264|PMID:20104584|PMID:20694749|PMID:21232165|PMID:21324516|PMID:21465317|PMID:21497495|PMID:21548014|PMID:21559243|PMID:21702907|PMID:21735045|PMID:21952622|PMID:21990134|PMID:22144684|PMID:22217648|PMID:22382806|PMID:22430266|PMID:22505045|PMID:22535016|PMID:22682623|PMID:22729890|PMID:22762150|PMID:22798144|PMID:22866093|PMID:23108138|PMID:23199084|PMID:23451180|PMID:23683081|PMID:23961350|PMID:24013206|PMID:24033266|PMID:24156927|PMID:24312913|PMID:24323938|PMID:24333842|PMID:24728189|PMID:25072261|PMID:25085752|PMID:25146914|PMID:25382762|PMID:25479140|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25884701|PMID:26014432|PMID:26026974|PMID:26187060|PMID:26295337|PMID:26467025|PMID:26541979|PMID:26709275|PMID:26787237|PMID:26834852|PMID:27741520|PMID:27767231|PMID:28008555|PMID:28111427|PMID:28324225|PMID:28349240|PMID:28423363|PMID:28477318|PMID:28486781|PMID:28492532|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28782087|PMID:28802053|PMID:29020732|PMID:29084914|PMID:29339979|PMID:29360161|PMID:29394989|PMID:29433453|PMID:29446198|PMID:29785153|PMID:29907814|PMID:30262796|PMID:30309222|PMID:30322717|PMID:30350268|PMID:30609409|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30787465|PMID:31131967|PMID:32206145|PMID:32255556|PMID:32295079|PMID:32444794|PMID:32719484|PMID:33087929|PMID:33471991|PMID:33606809|PMID:33609447|PMID:36988593|PMID:8665505|PMID:9150150|PMID:9361038|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5041 esophageal cancer ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Esophagus cancer PMID:25741868|PMID:28492532|PMID:31911673 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5223 infertility ISO RGD:2219 D RGD:9068941 20200609 RGD PMID:12754522|REF_RGD_ID:727990 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:7240710 20190410 OMIM 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31227566|PMID:31228304|PMID:31248605|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31948886|PMID:31954625|PMID:31957001|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32072338|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32866190|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33193653|PMID:33233347|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33773534|PMID:33773808|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34063308|PMID:3413277|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34350294|PMID:34399810|PMID:34749799|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17640379|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11512557|PMID:11556836|PMID:11595708|PMID:11597388|PMID:116985367|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:121769658|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15868448|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20736950|PMID:20804917|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23179793|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27603373|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31248605|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31948886|PMID:31954625|PMID:31957001|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32072338|PMID:32091409|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32720318|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32866190|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33773534|PMID:33773808|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34046351|PMID:34063308|PMID:3413277|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34350294|PMID:34399810|PMID:34749799|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055349|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31948886|PMID:31954625|PMID:31957001|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32072338|PMID:32091409|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32720318|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32866190|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32988965|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33773534|PMID:33773808|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34046351|PMID:34063308|PMID:3413277|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34749799|PMID:35150867|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055349 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31921681|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32072338|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32720318|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087175|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33466630|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33747920|PMID:33758026 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33773534|PMID:33773808|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34287479|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34490083|PMID:34503154|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34749799|PMID:34771991|PMID:35150867|PMID:35464868|PMID:35535697|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30054569|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32072338|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32720318|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087175|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33466630|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34490083|PMID:34503154|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34749799|PMID:34771991|PMID:34884835|PMID:35150867|PMID:35264596|PMID:35464868|PMID:35535697|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18414213|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:18974781|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23535825|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23593120|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23717510|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24359602|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24771903 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24852375|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24941967|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25751625|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25793373|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25838448|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25919761|PMID:25925381|PMID:25927356|PMID:25937444|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26264438|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26510858|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27074266|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27383479|PMID:27392074|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27424552|PMID:27425403|PMID:27428751|PMID:27432226|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27632928|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27742414|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28152060|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28377418|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28502252|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591191|PMID:28591715|PMID:28595730|PMID:28604730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29136510|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29382703|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29531215|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29688369|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29767749|PMID:29770616 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30192042|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30418626|PMID:30425037|PMID:30425093|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30672594|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:31069257|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174203|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32072338|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32104210|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32720318|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:32814805|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087175|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33466630|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33977503|PMID:33978741|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34490083|PMID:34503154|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34749799|PMID:34771991|PMID:34884835|PMID:35150867|PMID:35264596|PMID:35464868|PMID:35535697|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24771903|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24852375|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24941967|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25751625|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25793373|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25838448|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25919761|PMID:25925381|PMID:25927356|PMID:25937444|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26264438|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26510858|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27074266|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18414213|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:18974781|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23535825|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23593120|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23717510|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24359602|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24771903|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24852375|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24941967|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25751625|PMID:25777348|PMID:25782689|PMID:25793373|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25838448|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25919761|PMID:25925381|PMID:25927356|PMID:25937444|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26264438|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26510858|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27074266|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27392074|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27424552|PMID:27425403|PMID:27428751|PMID:27432226|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27632928|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27742414|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27854218|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28152060|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28377418|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28502252|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591191|PMID:28591715|PMID:28595730|PMID:28604730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29136510|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29382703|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29489754|PMID:29492181|PMID:29506128|PMID:29531215|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29688369|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29767749|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30054569|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30418626|PMID:30425037|PMID:30425093|PMID:30426508|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30672594|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:31069257|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174203|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31883735|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31957001|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32104210|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32133419|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33087175|PMID:33113089|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33670479|PMID:33672545|PMID:33726785|PMID:33747920|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33977503|PMID:33978741|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34645131|PMID:34658299|PMID:34680387|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:35150867|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35736817|PMID:35753294|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27854218|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580235|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31883735|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32165993|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34680387|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:35150867|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35736817|PMID:35753294|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1432501|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15868448|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29601120|PMID:29610387|PMID:29625052 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32165993|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34680387|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:35150867|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35736817|PMID:35753294|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29174094|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29601120|PMID:29610387 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32165993|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34680387|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:35150867|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385017|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1432501|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15868448|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21270786|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34659905|PMID:34680387|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:34979999|PMID:35150867|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35353237|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:35979650|PMID:35980532|PMID:36200007|PMID:36988593|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5744 ovary serous adenocarcinoma ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian serous surface papillary adenocarcinoma PMID:16793542|PMID:18704680|PMID:25741868 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:5750 endometrial serous adenocarcinoma susceptibility ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:deletion: :6174delT PMID:16650962|REF_RGD_ID:2289045 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:6039 uveal melanoma susceptibility ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:22187320|REF_RGD_ID:9068467 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:630 genetic disease ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15131399|PMID:15382066|PMID:16683254|PMID:16905680|PMID:16912212|PMID:17026620|PMID:18593900|PMID:18607349|PMID:18703817|PMID:20104584|PMID:20694749|PMID:21324516|PMID:22430266|PMID:22711857|PMID:24033266|PMID:24156927|PMID:24549055|PMID:25256924|PMID:25639900|PMID:25741868|PMID:25863477|PMID:25884701|PMID:26014432|PMID:26295337|PMID:26467025|PMID:26633542|PMID:26681312|PMID:27276934|PMID:27352968|PMID:28492532|PMID:28767289|PMID:29084914|PMID:29161300|PMID:29339979|PMID:29446198|PMID:29753700|PMID:29875428|PMID:29907814|PMID:29922827|PMID:29997359|PMID:30322717|PMID:30609409|PMID:30630528|PMID:30716324|PMID:30720243|PMID:30787465|PMID:31658756|PMID:31753525|PMID:31911673|PMID:32255556|PMID:32393813|PMID:32482800|PMID:32719484|PMID:32939053|PMID:33087929|PMID:33293522|PMID:33753322|PMID:33850299|PMID:35260348|PMID:35438911 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:6364 migraine ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Migraine PMID:15070707|PMID:16030099|PMID:16758124|PMID:17020472|PMID:18783588|PMID:20104584|PMID:20960228|PMID:21232165|PMID:21553119|PMID:21918853|PMID:22430266|PMID:22460208|PMID:22923021|PMID:23479189|PMID:24033266|PMID:25741868|PMID:26026974|PMID:26295337|PMID:26350514|PMID:26467025|PMID:28127413|PMID:28184943|PMID:28477318|PMID:28492532|PMID:28503720|PMID:29084914|PMID:29446198|PMID:29560538|PMID:30274973|PMID:30322717|PMID:30720863|PMID:32427313|PMID:33471991|PMID:34449592 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:6741 bilateral breast cancer ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: bilateral breast cancer PMID:25741868 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:687 hepatoblastoma ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:10717622|PMID:15937982|PMID:17826769|PMID:19941162|PMID:21120943|PMID:21769658|PMID:23056405|PMID:23893897|PMID:24884479|PMID:25348012|PMID:25741868|PMID:26467025|PMID:26933808|PMID:27741520|PMID:28492532|PMID:30212499|PMID:31911673|PMID:33471991|PMID:33643918|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:7141 prostate small cell carcinoma ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Metastatic Prostate Small Cell Carcinoma PMID:10660329|PMID:11597388|PMID:11802209|PMID:15024741|PMID:15689453|PMID:18393245|PMID:20104584|PMID:21952622|PMID:22009639|PMID:22144684|PMID:22535016|PMID:22666503|PMID:22798144|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26439132|PMID:26467025|PMID:27257965|PMID:27433846|PMID:27836010|PMID:28039656|PMID:28324225|PMID:28492532|PMID:28724667|PMID:28993434|PMID:29084914|PMID:29176636|PMID:29339979|PMID:29446198|PMID:30078507|PMID:30093976|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30702160|PMID:30720243|PMID:30787465|PMID:30875412|PMID:31263054|PMID:31447099|PMID:31742824|PMID:31825140|PMID:32295079|PMID:32318955|PMID:32341426|PMID:32467295|PMID:32710294|PMID:32853339|PMID:33608381|PMID:33918338|PMID:36988593 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:7188 autoimmune thyroiditis ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3 PMID:12373604|PMID:25682074|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31911673 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:74 hematopoietic system disease ISO RGD:10247 D RGD:9068941 20200609 RGD PMID:16859999|REF_RGD_ID:11038791 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:769 neuroblastoma ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:16284991|PMID:19043619|PMID:20127978|PMID:21702907|PMID:22034289|PMID:22711857|PMID:24163242|PMID:25741868|PMID:26467025|PMID:26822237|PMID:28492532|PMID:29884841|PMID:30287823|PMID:31112341|PMID:31131967|PMID:31294896|PMID:31911673|PMID:33428613|PMID:33609447 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:8923 skin melanoma disease_progression ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:SNP: :rs206118, rs3752447, rs10492396 (human) PMID:25243787|REF_RGD_ID:11344896 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9000039 Spinal Cord Injuries ISO RGD:2219 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal cord: PMID:21748659|REF_RGD_ID:10053608 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9000217 Stomach Neoplasms ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neoplasm of stomach PMID:12065746|PMID:16199547|PMID:16920162|PMID:20104584|PMID:22632462|PMID:22798144|PMID:24033266|PMID:24301060|PMID:24607278|PMID:24916970|PMID:25382762|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26834852|PMID:27741520|PMID:28111427|PMID:28492532|PMID:29907814|PMID:30078507|PMID:30606148|PMID:31131967|PMID:31331294|PMID:35535697|PMID:36988593 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9000357 Male Breast Neoplasms susceptibility ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:mutation PMID:18042939|REF_RGD_ID:2289043 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9002304 Prostatic Neoplasms ISO RGD:736254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9002762 Ovarian Neoplasms ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:10417300|PMID:10449599|PMID:10464624|PMID:10550133|PMID:10570174|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10699917|PMID:10733239|PMID:10739756|PMID:10790213|PMID:11149425|PMID:11179017|PMID:11389159|PMID:11466700|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:11896095|PMID:11897832|PMID:12097290|PMID:12402332|PMID:12461697|PMID:12473589|PMID:12624152|PMID:12655567|PMID:12845657|PMID:12955716|PMID:14559878|PMID:14576434|PMID:14732925|PMID:15010701|PMID:15024741|PMID:15070707|PMID:15340362|PMID:15689453|PMID:15695382|PMID:15744030|PMID:15994883|PMID:16030099|PMID:16168118|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16760289|PMID:16764716|PMID:16825431|PMID:17026620|PMID:17148771|PMID:17576681|PMID:17591843|PMID:17688236|PMID:17924331|PMID:17972171|PMID:18042939|PMID:18393245|PMID:18439106|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18593900|PMID:18607349|PMID:18704680|PMID:18783588|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19241424|PMID:19530235|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19941162|PMID:19941167|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20216074|PMID:20301425|PMID:20608899|PMID:20736950|PMID:20858050|PMID:20887823|PMID:21120943|PMID:21138478|PMID:21205087|PMID:21232165|PMID:21318380|PMID:21324516|PMID:21520333|PMID:21643751|PMID:21709188|PMID:21913181|PMID:21952622|PMID:21990134|PMID:22006311|PMID:22009639|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22430266|PMID:22505045|PMID:22535016|PMID:22666503|PMID:22703879|PMID:22711857|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22923021|PMID:22970155|PMID:23199084|PMID:23231788|PMID:23341105|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23633455|PMID:23658460|PMID:23683081|PMID:23940062|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24312913|PMID:24504028|PMID:24528374|PMID:24728189|PMID:24737347|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25085752|PMID:25111659|PMID:25136594|PMID:25186627|PMID:25330149|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:25940717|PMID:25980754|PMID:26064523|PMID:26187060|PMID:26287763|PMID:26295337|PMID:26360800|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26541979|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26867194|PMID:27153395|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27836010|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28152038|PMID:28176296|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28423363|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28947987|PMID:28973083|PMID:28993434|PMID:29053726|PMID:29084914|PMID:29161300|PMID:29176636|PMID:29288066|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29433453|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29937315|PMID:29961768|PMID:29978187|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30186769|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30489631|PMID:30548481|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30630528|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30787465|PMID:30832263|PMID:30875412|PMID:30883245|PMID:30972954|PMID:31131967|PMID:31159747|PMID:31174498|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31360904|PMID:31396961|PMID:31444830|PMID:31447099|PMID:31589614|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31911673|PMID:31948886|PMID:31957001|PMID:32029870|PMID:32072338|PMID:32091409|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32467295|PMID:32521533 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9002762 Ovarian Neoplasms ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:32581362|PMID:32710294|PMID:32719484|PMID:32846166|PMID:32853339|PMID:32885271|PMID:32959997|PMID:33077847|PMID:33087929|PMID:33372952|PMID:33461583|PMID:33471991|PMID:33558524|PMID:33608381|PMID:33808557|PMID:33891299|PMID:33918338|PMID:34308366|PMID:34309133|PMID:34399810|PMID:36988593|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8841191|PMID:8841192|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9536098|PMID:9585613|PMID:9758598 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:2219 D RGD:9068941 20200609 RGD PMID:16964288|REF_RGD_ID:1599505 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9003042 male breast carcinoma ISO RGD:736254 D RGD:8554872 20220913 ClinVar ClinVar Annotator: match by term: Male breast carcinoma PMID:10464631|PMID:17924331|PMID:21952622|PMID:21990134|PMID:22771033|PMID:24323938|PMID:25682074|PMID:25741868|PMID:26689913|PMID:28492532|PMID:29580235|PMID:9654203 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9005172 Lung Neoplasms ISO RGD:736254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24880342 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16539696|PMID:16541310|PMID:16550498|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18363094|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20233483|PMID:20301425|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:1|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16528604 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28195569|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29309945|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29596542|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30055349|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30760827 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31780696|PMID:31782247|PMID:31811167|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31948886|PMID:31954625|PMID:31957001|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32091409|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32988965|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33773534|PMID:33773808|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34046351|PMID:34063308|PMID:3413277|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34749799|PMID:35150867|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18363094|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20233483|PMID:20301425|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21621601 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:1|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655515|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28195569|PMID:28202063|PMID:28205045 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29596542|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30640733 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31780696|PMID:31782247|PMID:31794323|PMID:31811167|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31921681|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32587276|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087175|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33466630|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34287479|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34490083|PMID:34503154|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34749799|PMID:34771991|PMID:35150867|PMID:35464868|PMID:35535697|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18363094|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20233483|PMID:20301425|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:1|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655515|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21559243|PMID:21598239|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28195393|PMID:28195569|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29596542|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30620386 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30623411|PMID:30630526|PMID:30630528|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31780696|PMID:31782247|PMID:31794323|PMID:31811167|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32587276|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087175|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33466630|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34490083|PMID:34503154|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34749799|PMID:34771991|PMID:34884835|PMID:35150867|PMID:35264596|PMID:35464868|PMID:35535697|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18363094|PMID:18375895|PMID:18403564|PMID:18414213|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:18974781|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20233483|PMID:20301425|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23535825|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23593120|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23717510|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24359602|PMID:24372583|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24771903|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24830819|PMID:24835992|PMID:24852375|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24941967|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25320599 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25751625|PMID:25777348|PMID:25782689|PMID:25793373|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25838448|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25919761|PMID:25925381|PMID:25927356|PMID:25937444|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26264438|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26510858|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27074266|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27392074|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27424552|PMID:27425403|PMID:27428751|PMID:27432226|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27632928|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27742414|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28152060|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28195569|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28377418|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28502252|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591191|PMID:28591715|PMID:28604730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29136510|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29382703|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29531215|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29596542|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29688369|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29767749|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30181556|PMID:30185652|PMID:30192042|PMID:30199306|PMID:30204945 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30207912|PMID:30212499|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30418626|PMID:30425037|PMID:30425093|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30672594|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:31069257|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174203|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31780696|PMID:31782247|PMID:31794323|PMID:31811167|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32104210|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32587276|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087175|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33466630|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33939675|PMID:33948387|PMID:33977503|PMID:33978741|PMID:34026625|PMID:34034685 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:34046351|PMID:34063308|PMID:34072659|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34490083|PMID:34503154|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34749799|PMID:34771991|PMID:34884835|PMID:35150867|PMID:35264596|PMID:35464868|PMID:35535697|PMID:35886069|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16168123|PMID:16170354|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20233483|PMID:20301425|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20600922|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655515|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1432501|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22204421|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28195569|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29596542|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30553478|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31537621|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32165993|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32587276|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34548921|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34680387|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:35150867|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35736817|PMID:35753294|PMID:35886069|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385017|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655515|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1432501|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25974703|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28195569|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29596542|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30553478|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31537621|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32165993|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32587276|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34548921|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34680387|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:34979999|PMID:35150867|PMID:35205643|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35353237|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:35886069|PMID:35980532|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16324400|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20233483|PMID:20301425|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20600922|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21270786|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22204421|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22204421|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28195569|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29596542|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30553478|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31537621|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32587276|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34548921|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34659905|PMID:34680387|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:34979999|PMID:35150867|PMID:35205643|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35353237|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:35886069|PMID:35979650|PMID:35980532|PMID:36200007|PMID:36988593|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9836472|PMID:9840533|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9008344 Invasive Breast Carcinoma ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Invasive breast carcinoma PMID:25741868|PMID:28492532|PMID:31825140|PMID:31911673 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:11179017|PMID:11307153|PMID:11597388|PMID:15070707|PMID:15340362|PMID:15382066|PMID:16168118|PMID:16683254|PMID:17148771|PMID:17972171|PMID:18042939|PMID:19863560|PMID:20104584|PMID:20694749|PMID:20736950|PMID:21120943|PMID:21324516|PMID:23199084|PMID:23318356|PMID:23621881|PMID:24033266|PMID:24055113|PMID:24156927|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26295337|PMID:26467025|PMID:27741520|PMID:28008555|PMID:28294317|PMID:28423363|PMID:28492532|PMID:28724667|PMID:29161300|PMID:29339979|PMID:29360161|PMID:29446198|PMID:29478780|PMID:29907814|PMID:29909963|PMID:30274973|PMID:30702160|PMID:30720243|PMID:30787465|PMID:31174498|PMID:31447099|PMID:31825140|PMID:31837001|PMID:31957001|PMID:32029870|PMID:32101877|PMID:32190957|PMID:32318955|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32885271|PMID:33087929|PMID:33461583|PMID:33471991|PMID:34399810|PMID:8673090|PMID:9150172|PMID:9667259|PMID:9792861 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:10323242|PMID:10399947|PMID:10417300|PMID:10453741|PMID:10570174|PMID:10644434|PMID:10699917|PMID:10717622|PMID:10755399|PMID:10882858|PMID:10923033|PMID:10978364|PMID:11030417|PMID:11030418|PMID:11091690|PMID:11106241|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11179017|PMID:11241844|PMID:11336395|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11556836|PMID:11595708|PMID:11802209|PMID:11896095|PMID:11929857|PMID:11948123|PMID:11950811|PMID:11979449|PMID:12097290|PMID:12100744|PMID:12142080|PMID:12204006|PMID:12215251|PMID:12402332|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12556369|PMID:12624724|PMID:12684407|PMID:12845657|PMID:12938098|PMID:12955716|PMID:14531499|PMID:14555518|PMID:14559878|PMID:14576434|PMID:14647438|PMID:14746861|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15117986|PMID:15145354|PMID:15168169|PMID:15317758|PMID:15365993|PMID:15533909|PMID:15635067|PMID:15689453|PMID:15695382|PMID:15744044|PMID:15800311|PMID:15876480|PMID:15937982|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16168123|PMID:16261408|PMID:16284991|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16825431|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16949048|PMID:17011978|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17289875|PMID:17341484|PMID:17513806|PMID:17576681|PMID:17591843|PMID:17591940|PMID:17724471|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17997147|PMID:18006916|PMID:18284688|PMID:18286383|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18465347|PMID:18489799|PMID:18528753|PMID:18559594|PMID:18607349|PMID:18627636|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18824701|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19241424|PMID:19471317|PMID:19491284|PMID:19499246|PMID:19563646|PMID:19656164|PMID:19861517|PMID:19949876|PMID:20104584|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21324516|PMID:21356067|PMID:21520273|PMID:21520333|PMID:21598239|PMID:21671020|PMID:21702907|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21990134|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22126563|PMID:22144684|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22399190|PMID:22430266|PMID:22476429|PMID:22505045|PMID:22535016|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22875147|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23096105|PMID:23108138|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23469205|PMID:23555315|PMID:23593081|PMID:23633455|PMID:23658460|PMID:23683081|PMID:23704879|PMID:23729402|PMID:23893897|PMID:23929434|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24123850|PMID:24156927|PMID:24212087|PMID:24323938|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24961674|PMID:25085752|PMID:25123297|PMID:25428789|PMID:25476495|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25846551|PMID:25863477|PMID:25882375|PMID:25948282|PMID:25980754|PMID:25985138|PMID:26026974|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26306726|PMID:26332594|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26681312|PMID:26692440|PMID:26709275|PMID:26757417|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26898890|PMID:26992456|PMID:27062684|PMID:27067391|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27208206|PMID:27257965|PMID:27383479 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553291|PMID:27658390|PMID:27683183|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27831900|PMID:27836010|PMID:27907908|PMID:27914478|PMID:28039656|PMID:28111427|PMID:28179634|PMID:28194609|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28439188|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28664449|PMID:28678401|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28831036|PMID:28873162|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29192238|PMID:29215753|PMID:29240602|PMID:29288066|PMID:29321669|PMID:29339979|PMID:29346284|PMID:29360550|PMID:29368341|PMID:29394989|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29492181|PMID:29566657|PMID:29580235|PMID:29642553|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29752822|PMID:29802286|PMID:29881398|PMID:29884841|PMID:29907814|PMID:29988080|PMID:30039884|PMID:30078507|PMID:30152102|PMID:30254663|PMID:30287823|PMID:30410429|PMID:30415210|PMID:30611917|PMID:30652428|PMID:30702160|PMID:30725392|PMID:30883759|PMID:31131559|PMID:31131967|PMID:31159747|PMID:31825140|PMID:32123317|PMID:32211327|PMID:32295079|PMID:32444794|PMID:32455662|PMID:32761968|PMID:33233347|PMID:33428613|PMID:33471991|PMID:8075631|PMID:8524414|PMID:8665505|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150152|PMID:9150154|PMID:9536098|PMID:9585613|PMID:9609997|PMID:9758598|PMID:9771877|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:10323242|PMID:10399947|PMID:10417300|PMID:10453741|PMID:10570174|PMID:10644434|PMID:10699917|PMID:10717622|PMID:10755399|PMID:10882858|PMID:10978364|PMID:11030417|PMID:11030418|PMID:11091690|PMID:11106241|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11179017|PMID:11241844|PMID:11336395|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11556836|PMID:11595708|PMID:11802209|PMID:11896095|PMID:11929857|PMID:11948123|PMID:11950811|PMID:11979449|PMID:12097290|PMID:12100744|PMID:12142080|PMID:12204006|PMID:12215251|PMID:12402332|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12556369|PMID:12624724|PMID:12684407|PMID:12845657|PMID:12938098|PMID:12955716|PMID:14531499|PMID:14555518|PMID:14559878|PMID:14576434|PMID:14647438|PMID:14746861|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15117986|PMID:15145354|PMID:15168169|PMID:15317758|PMID:15365993|PMID:15533909|PMID:15635067|PMID:15689453|PMID:15695382|PMID:15744044|PMID:15800311|PMID:15876480|PMID:15937982|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16168123|PMID:16261408|PMID:16284991|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16825431|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16949048|PMID:17011978|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17289875|PMID:17341484|PMID:17513806|PMID:17576681|PMID:17591843|PMID:17591940|PMID:17724471|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17997147|PMID:18284688|PMID:18286383|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18528753|PMID:18559594|PMID:18607349|PMID:18627636|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18824701|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19241424|PMID:19471317|PMID:19491284|PMID:19499246|PMID:19563646|PMID:19656164|PMID:19861517|PMID:19949876|PMID:20104584|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21324516|PMID:21356067|PMID:21520273|PMID:21520333|PMID:21598239|PMID:21671020|PMID:21702907|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21990134|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22126563|PMID:22144684|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22399190|PMID:22430266|PMID:22476429|PMID:22505045|PMID:22535016|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22875147|PMID:22970155|PMID:22995991|PMID:23096105|PMID:23108138|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23469205|PMID:23555315|PMID:23593081|PMID:23633455|PMID:23658460|PMID:23683081|PMID:23704879|PMID:23729402|PMID:23893897|PMID:23929434|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24123850|PMID:24156927|PMID:24212087|PMID:24323938|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24961674|PMID:25085752|PMID:25123297|PMID:25428789|PMID:25476495|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25846551|PMID:25863477|PMID:25882375|PMID:25948282|PMID:25980754|PMID:25985138|PMID:26026974|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26306726|PMID:26332594|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26681312|PMID:26692440|PMID:26709275|PMID:26757417|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26898890|PMID:26992456|PMID:27062684|PMID:27067391|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27208206|PMID:27257965|PMID:27383479|PMID:27425403|PMID:27433846 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:27469594|PMID:27616075|PMID:27658390|PMID:27683183|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27831900|PMID:27836010|PMID:27907908|PMID:27914478|PMID:28039656|PMID:28111427|PMID:28179634|PMID:28194609|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28439188|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28664449|PMID:28678401|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28831036|PMID:28873162|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29240602|PMID:29288066|PMID:29321669|PMID:29339979|PMID:29346284|PMID:29360550|PMID:29368341|PMID:29394989|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29492181|PMID:29566657|PMID:29580235|PMID:29642553|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29752822|PMID:29802286|PMID:29881398|PMID:29884841|PMID:29907814|PMID:29988080|PMID:30032850|PMID:30039884|PMID:30078507|PMID:30152102|PMID:30254663|PMID:30287823|PMID:30410429|PMID:30415210|PMID:30611917|PMID:30652428|PMID:30702160|PMID:30725392|PMID:30883759|PMID:31131559|PMID:31131967|PMID:31159747|PMID:31825140|PMID:32123317|PMID:32211327|PMID:32295079|PMID:32338768|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32613071|PMID:32761968|PMID:32980694|PMID:33054725|PMID:33233347|PMID:33428613|PMID:33471991|PMID:34072659|PMID:8075631|PMID:8524414|PMID:8665505|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9536098|PMID:9585613|PMID:9609997|PMID:9758598|PMID:9771877|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:10323242|PMID:10399947|PMID:10417300|PMID:10453741|PMID:10464624|PMID:10570174|PMID:10644434|PMID:10699917|PMID:10717622|PMID:10755399|PMID:10882858|PMID:10978364|PMID:11030417|PMID:11030418|PMID:11091690|PMID:11106241|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11179017|PMID:11241844|PMID:11336395|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11556836|PMID:11595708|PMID:11802209|PMID:11896095|PMID:11929857|PMID:11948123|PMID:11950811|PMID:11979449|PMID:12097290|PMID:12100744|PMID:12142080|PMID:12204006|PMID:12215251|PMID:12402332|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12556369|PMID:12624724|PMID:12684407|PMID:12845657|PMID:12938098|PMID:12955716|PMID:14531499|PMID:14555518|PMID:14559878|PMID:14576434|PMID:14647438|PMID:14746861|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15117986|PMID:15145354|PMID:15168169|PMID:15317758|PMID:15365993|PMID:15533909|PMID:15635067|PMID:15689453|PMID:15695382|PMID:15744044|PMID:15800311|PMID:15876480|PMID:15937982|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16168123|PMID:16261408|PMID:16284991|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16825431|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16949048|PMID:17011978|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17289875|PMID:17341484|PMID:17513806|PMID:17576681|PMID:17591843|PMID:17591940|PMID:17724471|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17997147|PMID:18284688|PMID:18286383|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18528753|PMID:18559594|PMID:18607349|PMID:18627636|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18824701|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19241424|PMID:19471317|PMID:19491284|PMID:19499246|PMID:19563646|PMID:19656164|PMID:19861517|PMID:19949876|PMID:20104584|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21324516|PMID:21356067|PMID:21520273|PMID:21520333|PMID:21598239|PMID:21671020|PMID:21702907|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21990134|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22126563|PMID:22144684|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22399190|PMID:22430266|PMID:22476429|PMID:22505045|PMID:22535016|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22875147|PMID:22970155|PMID:22995991|PMID:23096105|PMID:23108138|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23469205|PMID:23555315|PMID:23593081|PMID:23633455|PMID:23658460|PMID:23683081|PMID:23704879|PMID:23729402|PMID:23893897|PMID:23929434|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24123850|PMID:24156927|PMID:24212087|PMID:24323938|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24961674|PMID:25085752|PMID:25123297|PMID:25428789|PMID:25476495|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25846551|PMID:25863477|PMID:25882375|PMID:25948282|PMID:25980754|PMID:25985138|PMID:26026974|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26306726|PMID:26332594|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26757417|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26898890|PMID:26992456|PMID:27062684|PMID:27067391|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27208206|PMID:27257965 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:27383479|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27683183|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27836010|PMID:27907908|PMID:27914478|PMID:27989354|PMID:28039656|PMID:28111427|PMID:28179634|PMID:28194609|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28439188|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28664449|PMID:28678401|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28831036|PMID:28873162|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29240602|PMID:29288066|PMID:29321669|PMID:29339979|PMID:29346284|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29487695|PMID:29492181|PMID:29534594|PMID:29566657|PMID:29580235|PMID:29642553|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29752822|PMID:29802286|PMID:29881398|PMID:29884841|PMID:29907814|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30032850|PMID:30039884|PMID:30050867|PMID:30078507|PMID:30152102|PMID:30254663|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30410429|PMID:30415210|PMID:30611917|PMID:30652428|PMID:30702160|PMID:30706003|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30883759|PMID:31131559|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31214711|PMID:31248605|PMID:31263571|PMID:31396961|PMID:31428572|PMID:31742824|PMID:31815095|PMID:31825140|PMID:31948886|PMID:32123317|PMID:32211327|PMID:32295079|PMID:32338768|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32613071|PMID:32719484|PMID:32761968|PMID:32782288|PMID:32817299|PMID:32820175|PMID:32879886|PMID:32885271|PMID:32980694|PMID:32984025|PMID:33054725|PMID:33078592|PMID:33233347|PMID:33309985|PMID:33428613|PMID:33471991|PMID:33558524|PMID:33726785|PMID:34046351|PMID:34072659|PMID:34567246|PMID:35300142|PMID:8075631|PMID:8524414|PMID:8665505|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9536098|PMID:9585613|PMID:9609997|PMID:9758598|PMID:9771877|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:10323242|PMID:10399947|PMID:10417300|PMID:10453741|PMID:10464624|PMID:10570174|PMID:10644434|PMID:10660329|PMID:10699917|PMID:10717622|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10882858|PMID:10923033|PMID:10978364|PMID:11030417|PMID:11030418|PMID:11091690|PMID:11106241|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11179017|PMID:11241844|PMID:11336395|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11802209|PMID:11896095|PMID:11929857|PMID:11948123|PMID:11950811|PMID:11979449|PMID:12065746|PMID:12097290|PMID:12100744|PMID:12142080|PMID:12204006|PMID:12215251|PMID:12402332|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12556369|PMID:12624724|PMID:12684407|PMID:12845657|PMID:12938098|PMID:12955716|PMID:14531499|PMID:14555518|PMID:14559878|PMID:14576434|PMID:14647438|PMID:14746861|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15117986|PMID:15145354|PMID:15168169|PMID:15317758|PMID:15365993|PMID:15533909|PMID:15635067|PMID:15689453|PMID:15695382|PMID:15744044|PMID:15800311|PMID:15876480|PMID:15937982|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16168123|PMID:16261408|PMID:16284991|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16825431|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16949048|PMID:17011978|PMID:17011979|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17289875|PMID:17341484|PMID:17513806|PMID:17576681|PMID:17591843|PMID:17591940|PMID:17724471|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17997147|PMID:18006916|PMID:18284688|PMID:18286383|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18528753|PMID:18559594|PMID:18607349|PMID:18627636|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18824701|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19241424|PMID:19471317|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19563646|PMID:19656164|PMID:19861517|PMID:19949876|PMID:20104584|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21324516|PMID:21356067|PMID:21520273|PMID:21520333|PMID:21598239|PMID:21671020|PMID:21702907|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21990134|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22126563|PMID:22144684|PMID:22217648|PMID:22293751|PMID:22399190|PMID:22430266|PMID:22476429|PMID:22505045|PMID:22535016|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22875147|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23096105|PMID:23108138|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23469205|PMID:23555315|PMID:23593081|PMID:23633455|PMID:23658460|PMID:23683081|PMID:23704879|PMID:23729402|PMID:23893897|PMID:23929434|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24123850|PMID:24156927|PMID:24212087|PMID:24323938|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24961674|PMID:25085752|PMID:25123297|PMID:25428789|PMID:25476495|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25846551|PMID:25863477|PMID:25882375|PMID:25948282|PMID:25980754|PMID:25985138|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26221963|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26306726|PMID:26332594|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26556299|PMID:26576347|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26757417|PMID:26843898 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:26845104|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26898890|PMID:26992456|PMID:27062684|PMID:27067391|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165220|PMID:27208206|PMID:27257965|PMID:27383479|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27683183|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27836010|PMID:27852271|PMID:27907908|PMID:27914478|PMID:27989354|PMID:28039656|PMID:28111427|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28439188|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28664449|PMID:28678401|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28831036|PMID:28873162|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29240602|PMID:29288066|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29339979|PMID:29346284|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29433453|PMID:29435039|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29642553|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29723101|PMID:29752822|PMID:29802286|PMID:29881398|PMID:29884841|PMID:29907814|PMID:29909963|PMID:29937315|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30050867|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30186769|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30410429|PMID:30415210|PMID:30489631|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30652428|PMID:30702160|PMID:30706003|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:31090900|PMID:31131559|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31214711|PMID:31248605|PMID:31263054|PMID:31263571|PMID:31396961|PMID:31409081|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31447099|PMID:31589614|PMID:31742824|PMID:31815095|PMID:31825140|PMID:31911673|PMID:31921681|PMID:31948886|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32029870|PMID:32039725|PMID:32101877|PMID:32123317|PMID:32132887|PMID:32211327|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32359129|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32581362|PMID:32613071|PMID:32710294|PMID:32719484|PMID:32761968|PMID:32782288|PMID:32817299|PMID:32820175|PMID:32853339|PMID:32854451|PMID:32879886|PMID:32885271|PMID:32980694|PMID:32984025|PMID:33054725|PMID:33077847|PMID:33078592|PMID:33087929|PMID:33151324|PMID:33233347|PMID:33309985|PMID:33428613|PMID:33471991|PMID:33558524|PMID:33608381|PMID:33646313|PMID:33726785|PMID:33891299|PMID:33918338|PMID:34046351|PMID:34072659|PMID:34308366|PMID:34399810|PMID:34567246|PMID:35300142|PMID:36988593|PMID:8075631|PMID:8524414|PMID:8665505|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9536098|PMID:9585613|PMID:9609997|PMID:9758598|PMID:9771877|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:mutation PMID:8524414|REF_RGD_ID:1599503 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:1|PMID:10070953|PMID:10227398|PMID:10359546|PMID:10399947|PMID:10417300|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10570174|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10874312|PMID:10882858|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044644|PMID:11062481|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11179017|PMID:11180605|PMID:11185744|PMID:11207042|PMID:11241844|PMID:11251181|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11710890|PMID:11754111|PMID:11793480|PMID:11802209|PMID:11812938|PMID:11843247|PMID:11857748|PMID:11873550|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11979449|PMID:12048272|PMID:12065746|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12142080|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1234|PMID:12373604|PMID:12402332|PMID:12414830|PMID:12442265|PMID:12442274|PMID:12442275|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12624152|PMID:12624724|PMID:12655560|PMID:12655567|PMID:12670525|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12759930|PMID:12845657|PMID:12872265|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12960223|PMID:14517958|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647438|PMID:14670928|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14746861|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15533909|PMID:15548363|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15744044|PMID:15766593|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16115142|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16205630|PMID:16234499|PMID:16261408|PMID:16284991|PMID:16324400|PMID:16389418|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16539696|PMID:16550498|PMID:16574953|PMID:16619214|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16978908|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17250666|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17333343|PMID:17341484|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17688236|PMID:17724471|PMID:17767707|PMID:17851763|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18092194|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18256760|PMID:18257128|PMID:18284688|PMID:18286383|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18528753|PMID:18547621|PMID:18559594 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:18563556|PMID:18593900|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18724707|PMID:18779604|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18951461|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19967274|PMID:20033483|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20195775|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20301425|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20513136|PMID:20567915|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20683152|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20859677|PMID:20878484|PMID:20887823|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:21918853|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23318356|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23397983|PMID:23415752|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23621881|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23767878|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24123850|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24333842|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25111659|PMID:25112434|PMID:25136594|PMID:25146914|PMID:25151137|PMID:25186627|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25330149|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428789|PMID:25447315|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25850536|PMID:25863477|PMID:25877891|PMID:25884701|PMID:25896959|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25980754|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26137147|PMID:26145171|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26221963|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26633542|PMID:26657402|PMID:26681312|PMID:26681678|PMID:26689913|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26757417|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26824983|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26911350|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26997744|PMID:27000661|PMID:27060066|PMID:27062684|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27153395|PMID:27157322|PMID:27165126|PMID:27165220|PMID:27194814|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27257965|PMID:27271530|PMID:27276934|PMID:27300552|PMID:27352968|PMID:27376475|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27456091|PMID:27469594|PMID:27478808|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27616075|PMID:27628236|PMID:27658390|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28176296|PMID:28179634|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28243543|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28541631|PMID:28616458|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28692638|PMID:28714951|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28767289|PMID:28782087|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28831036|PMID:28873162|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29116469|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:2928257 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:29288066|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580235|PMID:29625052|PMID:29642553|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29774201|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29802286|PMID:29805665|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29937315|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30212499|PMID:30217213|PMID:30254663|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30340782|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30447919|PMID:30472649|PMID:30489631|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630528|PMID:30652428|PMID:30675319|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30972954|PMID:30982232|PMID:31019283|PMID:31060517|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31432501|PMID:31444830|PMID:31447099|PMID:31454914|PMID:31528241|PMID:31550176|PMID:31589614|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31853058|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32029870|PMID:32039725|PMID:32046981|PMID:32058061|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32190957|PMID:32211327|PMID:32284662|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32359129|PMID:32365798|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32486089|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32566972|PMID:32570879|PMID:32581362|PMID:32599251|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32761968|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32832836|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32984025|PMID:33054725|PMID:33067490|PMID:33077847|PMID:33078592 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:33087929|PMID:33113089|PMID:33151324|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33670479|PMID:33720054|PMID:33731496|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33875706|PMID:33891299|PMID:33918338|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34046351|PMID:34072659|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34445631|PMID:34490083|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34717758|PMID:35260348|PMID:35300142|PMID:35438911|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35753294|PMID:35886069|PMID:36988593|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9145676|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9361038|PMID:9536098|PMID:9579822|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9971877 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9256 colorectal cancer ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9256 colorectal cancer ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:28492532|PMID:33609447 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9256 colorectal cancer severity ISO RGD:736254 D RGD:9068941 20210430 RGD PMID:16533773|REF_RGD_ID:126790575 12017566 BRCA2 BRCA2 DNA repair associated gene DOID:9460 uterine corpus cancer ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:11030418|PMID:11158174|PMID:11802209|PMID:12065746|PMID:12373604|PMID:12955716|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15024741|PMID:15070707|PMID:15689453|PMID:16115142|PMID:16825431|PMID:16912212|PMID:17100994|PMID:17513806|PMID:17924331|PMID:18465347|PMID:18703817|PMID:19043619|PMID:19241424|PMID:20104584|PMID:20736950|PMID:21138478|PMID:21203900|PMID:21324516|PMID:21520273|PMID:21598239|PMID:21719596|PMID:21952622|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22144684|PMID:22535016|PMID:22666503|PMID:22798144|PMID:22923021|PMID:22970155|PMID:23108138|PMID:23199084|PMID:23469205|PMID:23767878|PMID:23929434|PMID:24033266|PMID:24156927|PMID:24323938|PMID:24504028|PMID:24884479|PMID:25066507|PMID:25085752|PMID:25146914|PMID:25476495|PMID:25583207|PMID:25741868|PMID:25782689|PMID:26014432|PMID:26026974|PMID:26064523|PMID:26250392|PMID:26295337|PMID:26467025|PMID:26556299|PMID:26566862|PMID:26576347|PMID:26657402|PMID:26681312|PMID:26689913|PMID:26733283|PMID:26845104|PMID:27153395|PMID:27194814|PMID:27257965|PMID:27425403|PMID:27495310|PMID:27741520|PMID:27831900|PMID:28111427|PMID:28195393|PMID:28324225|PMID:28492532|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28993434|PMID:29084914|PMID:29161300|PMID:29176636|PMID:29310832|PMID:29335924|PMID:29339979|PMID:29368341|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29566657|PMID:29575201|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29907814|PMID:29988080|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30122538|PMID:30199306|PMID:30217213|PMID:30287823|PMID:30322717|PMID:30350268|PMID:30630528|PMID:30652428|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:31090900|PMID:31112363|PMID:31263054|PMID:31263571|PMID:31396961|PMID:31411802|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31742824|PMID:31825140|PMID:31921681|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32039725|PMID:32098980|PMID:32101877|PMID:32132887|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32467295|PMID:32719484|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32885271|PMID:33054725|PMID:33087929|PMID:33478551|PMID:33558524|PMID:33891299|PMID:34008015|PMID:34072659|PMID:34399810|PMID:36988593|PMID:8524414|PMID:8665505|PMID:9585613|PMID:9667259 12017566 Brca2 BRCA2, DNA repair associated gene DOID:83 cataract ISO RGD:2219 D RGD:9068941 20200609 RGD PMID:16964288|REF_RGD_ID:1599505 12017597 KIF5C kinesin family member 5C gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1318371 D RGD:9068941 20200609 RGD mRNA:increased expression:frontal cortex, cerebellum (mouse) PMID:23006449|REF_RGD_ID:12798528 12017597 KIF5C kinesin family member 5C gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1318370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:19904302|PMID:21981781|PMID:23632792 12017597 KIF5C kinesin family member 5C gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1318370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23603762 12017597 KIF5C kinesin family member 5C gene DOID:0090133 complex cortical dysplasia with other brain malformations 2 ISO RGD:1318370 D RGD:7240710 20180130 OMIM 12017597 KIF5C kinesin family member 5C gene DOID:0090133 complex cortical dysplasia with other brain malformations 2 ISO RGD:1318370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 2 PMID:23033978|PMID:23603762|PMID:24088041|PMID:24812067|PMID:25741868|PMID:26633545 12017597 KIF5C kinesin family member 5C gene DOID:0110042 Alzheimer's disease 3 ISO RGD:1318370 D RGD:9068941 20200609 RGD protein:decreased expression:cerebellum (human) PMID:24569455|REF_RGD_ID:12859086 12017597 KIF5C kinesin family member 5C gene DOID:10907 microcephaly ISO RGD:1318370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23603762 12017597 KIF5C kinesin family member 5C gene DOID:127 leiomyoma ISO RGD:1318370 D RGD:9068941 20200609 RGD mRNA:increased expression:myometrium (human) PMID:20396563|REF_RGD_ID:12859089 12017597 KIF5C kinesin family member 5C gene DOID:5419 schizophrenia ISO RGD:1318370 D RGD:9068941 20200609 RGD DNA:snp:enhancer:T>C (rs10929935) (human) PMID:24581549|REF_RGD_ID:12859088 12017597 KIF5C kinesin family member 5C gene DOID:630 genetic disease ISO RGD:1318370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12017597 KIF5C kinesin family member 5C gene DOID:9008582 Developmental Disease ISO RGD:1318370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12017627 DSTYK dual serine/threonine and tyrosine protein kinase gene DOID:0080206 CAKUT1 ISO RGD:1604373 D RGD:7240710 20180130 OMIM 12017627 DSTYK dual serine/threonine and tyrosine protein kinase gene DOID:0080206 CAKUT1 ISO RGD:1604373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1 PMID:17273976|PMID:17576681|PMID:23862974|PMID:25741868|PMID:27657687|PMID:28492532|PMID:28566479|PMID:9536098 12017627 DSTYK dual serine/threonine and tyrosine protein kinase gene DOID:0110774 hereditary spastic paraplegia 23 ISO RGD:1604373 D RGD:7240710 20180130 OMIM 12017627 DSTYK dual serine/threonine and tyrosine protein kinase gene DOID:0110774 hereditary spastic paraplegia 23 ISO RGD:1604373 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 23 PMID:25741868|PMID:28492532|PMID:33624863 12017627 DSTYK dual serine/threonine and tyrosine protein kinase gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1604373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12017627 DSTYK dual serine/threonine and tyrosine protein kinase gene DOID:12849 autistic disorder ISO RGD:1604373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12017627 DSTYK dual serine/threonine and tyrosine protein kinase gene DOID:1540 parathyroid carcinoma ISO RGD:1604373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12017627 DSTYK dual serine/threonine and tyrosine protein kinase gene DOID:630 genetic disease ISO RGD:1604373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12017627 DSTYK dual serine/threonine and tyrosine protein kinase gene DOID:784 chronic kidney disease ISO RGD:1604373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 12017627 DSTYK dual serine/threonine and tyrosine protein kinase gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1604373 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12017627 DSTYK dual serine/threonine and tyrosine protein kinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12017648 TIMM9 translocase of inner mitochondrial membrane 9 gene DOID:0110992 Joubert syndrome 23 ISO RGD:1352655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 23 PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532 12017667 MPV17L2 MPV17 mitochondrial inner membrane protein like 2 gene DOID:630 genetic disease ISO RGD:1603190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12017667 MPV17L2 MPV17 mitochondrial inner membrane protein like 2 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1603190 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12017676 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:733681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12017676 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:0060041 autism spectrum disorder ISO RGD:733681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12017676 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:733681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12017676 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:733681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12017676 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:733681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12017676 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:733681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12017676 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:0110994 Joubert syndrome 25 ISO RGD:733681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12017676 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:0111292 idiopathic generalized epilepsy 10 ISO RGD:733681 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 10 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 10 PMID:15115768|PMID:16023832|PMID:16256272|PMID:16452673|PMID:17559416|PMID:23216579|PMID:25194483|PMID:25741868|PMID:26467025|PMID:28383543|PMID:28492532|PMID:34633442 12017676 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:0111292 idiopathic generalized epilepsy 10 susceptibility ISO RGD:733681 D RGD:7240710 20190904 OMIM 12017676 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:0111934 immunodeficiency 38 ISO RGD:733681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12017676 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:0111935 immunodeficiency 16 ISO RGD:733681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12017676 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:1059 intellectual disability ISO RGD:733681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12017676 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:1826 epilepsy ISO RGD:733681 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12017676 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:1827 idiopathic generalized epilepsy ISO RGD:733681 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:15115768|PMID:16023832|PMID:16256272|PMID:16452673|PMID:17559416|PMID:17576681|PMID:20352446|PMID:23216579|PMID:24249596|PMID:25741868|PMID:26467025|PMID:28383543|PMID:28492532|PMID:9536098 12017676 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:5419 schizophrenia ISO RGD:733681 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18923069 12017676 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:630 genetic disease ISO RGD:733681 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12017676 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:684 hepatocellular carcinoma ISO RGD:733681 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12017676 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:9000804 Intellectual Developmental Disorder with Seizures and Language Delay ISO RGD:733681 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with seizures and language delay PMID:25741868 12017676 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:9001793 Generalized Epilepsy ISO RGD:733681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:28492532 12017676 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12017676 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:9006930 Generalized Epilepsy with Febrile Seizures Plus, Type 5 ISO RGD:733681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus type 5 PMID:15115768|PMID:16023832|PMID:16256272|PMID:16452673|PMID:17559416|PMID:23216579|PMID:26467025|PMID:28383543|PMID:28492532 12017676 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:733681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12017676 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:733681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12017676 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:9478 postpartum depression ISO RGD:62194 D RGD:9068941 20220825 MouseDO 12017696 SLC16A2 solute carrier family 16 member 2 gene DOID:0050631 Allan-Herndon-Dudley syndrome ISO RGD:737451 D RGD:7240710 20180130 OMIM 12017696 SLC16A2 solute carrier family 16 member 2 gene DOID:0050631 Allan-Herndon-Dudley syndrome ISO RGD:737451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome | ClinVar Annotator: match by term: Mental retardation and muscular atrophy PMID:12871948|PMID:14661163|PMID:15488219|PMID:15889350|PMID:15980113|PMID:1605231|PMID:16417886|PMID:17356046|PMID:18187543|PMID:18398436|PMID:18414213|PMID:18636565|PMID:20083155|PMID:20301789|PMID:23568789|PMID:23744248|PMID:24265446|PMID:24721225|PMID:25167861|PMID:25517855|PMID:25527620|PMID:25741868|PMID:27081503|PMID:27212794|PMID:27805744|PMID:28492532|PMID:30369548|PMID:31410843|PMID:31690835|PMID:32277047|PMID:32559475|PMID:33847015|PMID:8484404 12017696 SLC16A2 solute carrier family 16 member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:737451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24781735 12017696 SLC16A2 solute carrier family 16 member 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:737451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12017696 SLC16A2 solute carrier family 16 member 2 gene DOID:10283 prostate cancer ISO RGD:737451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12017696 SLC16A2 solute carrier family 16 member 2 gene DOID:1059 intellectual disability ISO RGD:737451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25167861|PMID:25741868|PMID:28492532 12017696 SLC16A2 solute carrier family 16 member 2 gene DOID:12849 autistic disorder ISO RGD:737451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12017696 SLC16A2 solute carrier family 16 member 2 gene DOID:13580 cholestasis ISO RGD:737451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 12017696 SLC16A2 solute carrier family 16 member 2 gene DOID:1459 hypothyroidism ISO RGD:737451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31121238 12017696 SLC16A2 solute carrier family 16 member 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:737451 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18414213|PMID:20301789|PMID:23568789|PMID:24265446|PMID:24721225|PMID:25527620|PMID:25741868|PMID:27212794|PMID:28492532|PMID:28832565 12017696 SLC16A2 solute carrier family 16 member 2 gene DOID:607 paraplegia ISO RGD:737451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:15488219|PMID:15889350|PMID:15980113|PMID:16199547|PMID:16957765|PMID:17576681|PMID:18187543|PMID:18398436|PMID:18414213|PMID:19648159|PMID:20083155|PMID:20301789|PMID:21835051|PMID:23568789|PMID:23744248|PMID:24265446|PMID:24721225|PMID:25222753|PMID:25527620|PMID:25741868|PMID:27212794|PMID:27805744|PMID:27977298|PMID:28492532|PMID:29714107|PMID:30369548|PMID:31410843|PMID:32559475|PMID:9536098 12017696 SLC16A2 solute carrier family 16 member 2 gene DOID:630 genetic disease ISO RGD:737451 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15980113|PMID:16974106|PMID:18398436|PMID:18414213|PMID:18636565|PMID:19194886|PMID:20301789|PMID:21835051|PMID:23568789|PMID:24265446|PMID:24721225|PMID:25527620|PMID:25741868|PMID:27212794|PMID:27805744|PMID:28492532 12017706 ITPR3 inositol 1,4,5-trisphosphate receptor type 3 gene DOID:0050553 JMP syndrome ISO RGD:733997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12017706 ITPR3 inositol 1,4,5-trisphosphate receptor type 3 gene DOID:0060041 autism spectrum disorder ISO RGD:10822 D RGD:9068941 20220825 MouseDO 12017706 ITPR3 inositol 1,4,5-trisphosphate receptor type 3 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:733997 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 12017706 ITPR3 inositol 1,4,5-trisphosphate receptor type 3 gene DOID:12849 autistic disorder ISO RGD:733997 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33166615 12017706 ITPR3 inositol 1,4,5-trisphosphate receptor type 3 gene DOID:2722 acrodermatitis ISO RGD:733997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27258892 12017706 ITPR3 inositol 1,4,5-trisphosphate receptor type 3 gene DOID:630 genetic disease ISO RGD:733997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12017706 ITPR3 inositol 1,4,5-trisphosphate receptor type 3 gene DOID:9002349 Charcot-Marie-Tooth Disease Type 1J ISO RGD:733997 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1J PMID:24627108|PMID:32949214 12017706 ITPR3 inositol 1,4,5-trisphosphate receptor type 3 gene DOID:9002349 Charcot-Marie-Tooth Disease Type 1J susceptibility ISO RGD:733997 D RGD:7240710 20230517 OMIM 12017706 ITPR3 inositol 1,4,5-trisphosphate receptor type 3 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:733997 D RGD:7240710 20230517 OMIM 12017782 CINP cyclin dependent kinase 2 interacting protein gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1602222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12017782 CINP cyclin dependent kinase 2 interacting protein gene DOID:1826 epilepsy ISO RGD:1602222 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:26539891 12017804 NUP155 nucleoporin 155 gene DOID:0060224 atrial fibrillation ISO RGD:734441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation 12017804 NUP155 nucleoporin 155 gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:734441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:28492532 12017804 NUP155 nucleoporin 155 gene DOID:5426 primary ovarian insufficiency ISO RGD:734441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 12017804 NUP155 nucleoporin 155 gene DOID:630 genetic disease ISO RGD:734441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12017804 NUP155 nucleoporin 155 gene DOID:9000234 Familial Atrial Fibrillation 15 ISO RGD:734441 D RGD:7240710 20180130 OMIM 12017804 NUP155 nucleoporin 155 gene DOID:9000234 Familial Atrial Fibrillation 15 ISO RGD:734441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 15 PMID:15596564|PMID:19070573|PMID:25741868 12017804 NUP155 nucleoporin 155 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12017804 NUP155 nucleoporin 155 gene DOID:9008086 Developmental Disabilities ISO RGD:734441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12017843 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:0050700 cardiomyopathy ISO RGD:1314398 D RGD:9068941 20230128 RGD mRNA:increased expression:heart PMID:18658259|REF_RGD_ID:155882484 12017843 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1314398 D RGD:9068941 20200609 RGD PMID:15705784|REF_RGD_ID:1580640 12017843 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:0080169 tricuspid atresia ISO RGD:1550372 D RGD:9068941 20220825 MouseDO OMIM:605067 12017843 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:0080169 tricuspid atresia ISO RGD:1550372 D RGD:9068941 20230128 RGD PMID:10888889|REF_RGD_ID:155882483 12017843 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:0111590 Cohen syndrome ISO RGD:1314398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12017843 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:0111770 46,XY sex reversal 9 ISO RGD:1314398 D RGD:7240710 20180130 OMIM 12017843 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:0111770 46,XY sex reversal 9 ISO RGD:1314398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 9 PMID:14517948|PMID:17568391|PMID:20807224|PMID:21919901|PMID:24033266|PMID:24549039|PMID:24702427|PMID:25107291|PMID:25741868|PMID:28166811|PMID:28492532|PMID:34008892 12017843 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:0111772 46,XY sex reversal 3 ISO RGD:1314398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 3 PMID:14517948|PMID:17568391|PMID:20807224|PMID:21919901|PMID:24033266|PMID:24549039|PMID:24702427|PMID:25741868|PMID:28492532 12017843 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1550372 D RGD:9068941 20230128 RGD PMID:25196150|REF_RGD_ID:155882481 12017843 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1550372 D RGD:9068941 20230128 RGD protein:increased expression:heart: PMID:18658259|REF_RGD_ID:155882484 12017843 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:1657 ventricular septal defect ISO RGD:1550372 D RGD:9068941 20230128 RGD PMID:25196150|REF_RGD_ID:155882481 12017843 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:1882 atrial heart septal defect ISO RGD:1550372 D RGD:9068941 20230128 RGD PMID:25196150|REF_RGD_ID:155882481 12017843 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1550372 D RGD:9068941 20220825 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 12017843 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:6000 congestive heart failure exacerbates ISO RGD:1550372 D RGD:9068941 20230128 RGD PMID:18658259|REF_RGD_ID:155882484 12017843 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:630 genetic disease ISO RGD:1314398 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28166811|PMID:28492532 12017843 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:6406 double outlet right ventricle ISO RGD:1314398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Double outlet right ventricle PMID:14517948|PMID:17568391|PMID:20807224|PMID:21919901|PMID:24702427|PMID:25741868|PMID:28492532 12017843 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:6419 tetralogy of Fallot ISO RGD:1314398 D RGD:7240710 20180130 OMIM 12017843 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:6419 tetralogy of Fallot ISO RGD:1314398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:14517948|PMID:20807224|PMID:24033266|PMID:24549039|PMID:24702427|PMID:25741868|PMID:28492532 12017843 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:9000460 Diaphragmatic Hernia 3 ISO RGD:1314398 D RGD:7240710 20180130 OMIM 12017843 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:9000460 Diaphragmatic Hernia 3 ISO RGD:1314398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diaphragmatic hernia 3 PMID:14517948|PMID:16103912|PMID:17568391|PMID:20807224|PMID:21919901|PMID:24702427|PMID:25741868|PMID:28492532 12017843 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:9003505 Venous Thromboembolism susceptibility ISO RGD:1314398 D RGD:9068941 20230128 RGD DNA:SNP: :rs4602861(human) PMID:28373160|REF_RGD_ID:155882487 12017843 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:9008539 Perinatal Death ISO RGD:1550372 D RGD:9068941 20230128 RGD PMID:25196150|REF_RGD_ID:155882481 12017843 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:1314398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17436238 12017854 HLCS holocarboxylase synthetase gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1320489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12017854 HLCS holocarboxylase synthetase gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1320489 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12017854 HLCS holocarboxylase synthetase gene DOID:1826 epilepsy ISO RGD:1320489 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12017854 HLCS holocarboxylase synthetase gene DOID:630 genetic disease ISO RGD:1320489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16134170|PMID:24033266|PMID:24215330|PMID:25741868|PMID:27604308|PMID:28492532 12017854 HLCS holocarboxylase synthetase gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1320489 D RGD:7240710 20180130 OMIM 12017854 HLCS holocarboxylase synthetase gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1320489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:10068510|PMID:10190325|PMID:10590022|PMID:10653324|PMID:11124959|PMID:11185745|PMID:11735028|PMID:12124727|PMID:12633764|PMID:15635070|PMID:16134170|PMID:16199547|PMID:16231399|PMID:17274881|PMID:17407983|PMID:17576681|PMID:18429047|PMID:18442489|PMID:18974016|PMID:19157941|PMID:19695181|PMID:19806568|PMID:20026029|PMID:20095979|PMID:21874615|PMID:21894551|PMID:22027809|PMID:24033266|PMID:24085707|PMID:24099927|PMID:24215330|PMID:24239178|PMID:25087612|PMID:25525159|PMID:25690727|PMID:25741868|PMID:26938784|PMID:27114915|PMID:27604308|PMID:28492532|PMID:29701239|PMID:32219826|PMID:32358368|PMID:32727382|PMID:33123633|PMID:6133032|PMID:7842009|PMID:8319716|PMID:8541348|PMID:8817339|PMID:9396568|PMID:9536098|PMID:9630604|PMID:9870216 12017854 HLCS holocarboxylase synthetase gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1320489 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:25741868|PMID:28492532 12017887 RNF146 ring finger protein 146 gene DOID:2256 osteochondrodysplasia ISO RGD:1552458 D RGD:9068941 20221020 MouseDO 12017887 RNF146 ring finger protein 146 gene DOID:630 genetic disease ISO RGD:1315124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12017887 RNF146 ring finger protein 146 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1306482 D RGD:9068941 20200609 RGD PMID:28108258|REF_RGD_ID:13524865 12017909 CD300LG CD300 molecule like family member g gene DOID:630 genetic disease ISO RGD:1601720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12017931 MOS MOS proto-oncogene, serine/threonine kinase gene DOID:630 genetic disease ISO RGD:735699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12017934 MON2 MON2 homolog, regulator of endosome-to-Golgi trafficking gene DOID:630 genetic disease ISO RGD:1604635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12017991 FSIP1 fibrous sheath interacting protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1315740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12017991 FSIP1 fibrous sheath interacting protein 1 gene DOID:630 genetic disease ISO RGD:1315740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12017991 FSIP1 fibrous sheath interacting protein 1 gene DOID:9256 colorectal cancer ISO RGD:1315740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12018073 RIGI RNA sensor RIG-I gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1319812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12018073 RIGI RNA sensor RIG-I gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1319812 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12018073 RIGI RNA sensor RIG-I gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1319812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12018073 RIGI RNA sensor RIG-I gene DOID:1883 hepatitis C ISO RGD:1319812 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20170495 12018073 RIGI RNA sensor RIG-I gene DOID:2365 West Nile encephalitis ISO RGD:1319813 D RGD:9068941 20210423 RGD mRNA:increased expression:brain PMID:24173226|REF_RGD_ID:126781836 12018073 RIGI RNA sensor RIG-I gene DOID:630 genetic disease ISO RGD:1319812 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12018073 RIGI RNA sensor RIG-I gene DOID:8893 psoriasis ISO RGD:1319812 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143594 12018073 RIGI RNA sensor RIG-I gene DOID:9000371 influenza A ISO RGD:1319813 D RGD:9068941 20210122 RGD mRNA:increased expression:nasal cavity mucosa (mouse) PMID:25751630|REF_RGD_ID:40925925 12018073 RIGI RNA sensor RIG-I gene DOID:9000918 Disease Progression ISO RGD:1319812 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20170495 12018073 RIGI RNA sensor RIG-I gene DOID:9001488 Human Influenza ISO RGD:1319812 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12018073 RIGI RNA sensor RIG-I gene DOID:9001499 Orthomyxoviridae Infections ISO RGD:1319812 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:25780039 12018073 RIGI RNA sensor RIG-I gene DOID:9002133 Singleton-Merten Syndrome 2 ISO RGD:1319812 D RGD:7240710 20180130 OMIM 12018073 RIGI RNA sensor RIG-I gene DOID:9002133 Singleton-Merten Syndrome 2 ISO RGD:1319812 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Singleton-Merten syndrome 2 PMID:25620203|PMID:25741868|PMID:28492532 12018073 RIGI RNA sensor RIG-I gene DOID:9562 primary ciliary dyskinesia ISO RGD:1319812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12018073 RIGI RNA sensor RIG-I gene DOID:9870 galactosemia ISO RGD:1319812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12018100 TAGLN3 transgelin 3 gene DOID:630 genetic disease ISO RGD:1348892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018109 IMMP2L inner mitochondrial membrane peptidase subunit 2 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1350569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27356265 12018109 IMMP2L inner mitochondrial membrane peptidase subunit 2 gene DOID:0111275 speech-language disorder-1 ISO RGD:1350569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood apraxia of speech PMID:25422445 12018109 IMMP2L inner mitochondrial membrane peptidase subunit 2 gene DOID:12849 autistic disorder ISO RGD:1350569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19401682 12018109 IMMP2L inner mitochondrial membrane peptidase subunit 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12018109 IMMP2L inner mitochondrial membrane peptidase subunit 2 gene DOID:5419 schizophrenia ISO RGD:1350569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12018109 IMMP2L inner mitochondrial membrane peptidase subunit 2 gene DOID:630 genetic disease ISO RGD:1350569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018127 RPL35A ribosomal protein L35a gene DOID:0111883 Diamond-Blackfan anemia 5 ISO RGD:733438 D RGD:7240710 20180130 OMIM 12018127 RPL35A ribosomal protein L35a gene DOID:0111883 Diamond-Blackfan anemia 5 ISO RGD:733438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 PMID:16199547|PMID:17576681|PMID:18535205|PMID:22262766|PMID:22689679|PMID:25424902|PMID:25741868|PMID:25946618|PMID:28492532|PMID:32241839|PMID:9536098 12018127 RPL35A ribosomal protein L35a gene DOID:1339 Diamond-Blackfan anemia ISO RGD:733438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:18535205|PMID:25424902|PMID:25741868|PMID:25946618|PMID:28492532 12018127 RPL35A ribosomal protein L35a gene DOID:3068 glioblastoma ISO RGD:733438 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (human) PMID:10880769|REF_RGD_ID:11535077 12018139 C7H7orf33 chromosome 7 C7orf33 homolog gene DOID:0090130 cortical dysplasia-focal epilepsy syndrome ISO RGD:1342559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome PMID:16571880|PMID:22872700|PMID:28492532 12018139 C7H7orf33 chromosome 7 C7orf33 homolog gene DOID:14731 Weaver syndrome ISO RGD:1342559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Weaver syndrome PMID:28492532 12018146 ZNF384 zinc finger protein 384 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1345674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12018146 ZNF384 zinc finger protein 384 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1345674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12018146 ZNF384 zinc finger protein 384 gene DOID:0111621 Temtamy syndrome ISO RGD:1345674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12018146 ZNF384 zinc finger protein 384 gene DOID:630 genetic disease ISO RGD:1345674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018146 ZNF384 zinc finger protein 384 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1345674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:0014667 disease of metabolism ISO RGD:69474 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:10600799|REF_RGD_ID:1581420 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:0014667 disease of metabolism susceptibility ISO RGD:69473 D RGD:9068941 20200609 RGD DNA:SNPs PMID:18692268|REF_RGD_ID:2308809 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:69473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:0050777 Joubert syndrome ISO RGD:69473 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:69473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis syndrome PMID:25087610 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:69473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23603006|PMID:24633463 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:69423 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:liver (rat) treatment with INT-767 PMID:30038487|REF_RGD_ID:15092090 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:69473 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 ISO RGD:69473 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome PMID:25741868|PMID:31790666|PMID:32497488|PMID:32902915|PMID:33253727 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:12351 alcoholic hepatitis treatment ISO RGD:69423 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:12849 autistic disorder ISO RGD:69473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:557 kidney disease ISO RGD:69423 D RGD:9068941 20200609 RGD protein:altered localization:kidney PMID:15944339|REF_RGD_ID:1625196 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:630 genetic disease ISO RGD:69473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:69473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563831|PMID:21147110 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:783 end stage renal disease ISO RGD:69473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9000038 Urban Schosser Spohn Syndrome ISO RGD:69473 D RGD:7240710 20201111 OMIM 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9000038 Urban Schosser Spohn Syndrome ISO RGD:69473 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary mucoepithelial dysplasia PMID:25741868|PMID:31790666|PMID:32497488|PMID:32902915|PMID:33253727 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:69423 D RGD:9068941 20200609 RGD protein:altered localization:liver PMID:16741953|REF_RGD_ID:1581819 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69423 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA:increased expression:kidney PMID:18613221|REF_RGD_ID:2308806 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69473 D RGD:9068941 20200609 RGD PMID:17961514|REF_RGD_ID:2308811 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69474 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17961514|REF_RGD_ID:2308811 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69474 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:kidney PMID:16936198|REF_RGD_ID:2308815 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69474 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:kidney PMID:16046298|REF_RGD_ID:1581418 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:69423 D RGD:9068941 20200609 RGD PMID:19017816|REF_RGD_ID:2308805 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9004587 Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2 ISO RGD:69473 D RGD:7240710 20200930 OMIM 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9004587 Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2 ISO RGD:69473 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IFAP syndrome 2 PMID:25741868|PMID:31790666|PMID:32497488|PMID:32902915|PMID:33253727 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69423 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:renal proximal tubule, epithelial cell PMID:19048273|REF_RGD_ID:2308804 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10900012|PMID:23090186 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9007692 Insulin Resistance ISO RGD:69423 D RGD:9068941 20200609 RGD associated with Fatty Liver;mRNA:increased expression:liver PMID:17241878|REF_RGD_ID:2308807 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9007692 Insulin Resistance ISO RGD:69473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22658938 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:69473 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP PMID:18692268|REF_RGD_ID:2308809 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69423 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:19357831|REF_RGD_ID:2308802 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:69473 D RGD:9068941 20200609 RGD DNA:SNPs PMID:18692268|REF_RGD_ID:2308809 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9452 fatty liver disease ISO RGD:69473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24469900 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9455 lipid storage disease ISO RGD:69423 D RGD:9068941 20200609 RGD PMID:17524234|REF_RGD_ID:2308821 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9743 diabetic neuropathy ISO RGD:69423 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:19423844|REF_RGD_ID:2308808 12018202 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9970 obesity ISO RGD:69473 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 12018231 ZNF224 zinc finger protein 224 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1350705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12018231 ZNF224 zinc finger protein 224 gene DOID:10283 prostate cancer ISO RGD:1350705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12018231 ZNF224 zinc finger protein 224 gene DOID:5419 schizophrenia ISO RGD:1350705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12018231 ZNF224 zinc finger protein 224 gene DOID:630 genetic disease ISO RGD:1350705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018241 KIF3C kinesin family member 3C gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:731540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12018241 KIF3C kinesin family member 3C gene DOID:0060224 atrial fibrillation ISO RGD:731540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12018241 KIF3C kinesin family member 3C gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:731540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12018241 KIF3C kinesin family member 3C gene DOID:630 genetic disease ISO RGD:731540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018262 NKD1 NKD inhibitor of WNT signaling pathway 1 gene DOID:0111122 nephronophthisis 14 ISO RGD:1318289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 12018262 NKD1 NKD inhibitor of WNT signaling pathway 1 gene DOID:630 genetic disease ISO RGD:1318289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018275 GUSB glucuronidase beta gene DOID:0060041 autism spectrum disorder ISO RGD:737258 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12018275 GUSB glucuronidase beta gene DOID:10283 prostate cancer ISO RGD:737258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12018275 GUSB glucuronidase beta gene DOID:1059 intellectual disability ISO RGD:737258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:19224584|PMID:21504867|PMID:23777470|PMID:25741868|PMID:28492532|PMID:7573038|PMID:9490302 12018275 GUSB glucuronidase beta gene DOID:12798 mucopolysaccharidosis disease_progression ISO RGD:2772 D RGD:9068941 20210312 RGD protein:decreases activity:spleen, kidney, lung (rat) PMID:2879381|REF_RGD_ID:42724461 12018275 GUSB glucuronidase beta gene DOID:12800 mucopolysaccharidosis VI ISO RGD:737258 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Maroteaux Lamy syndrome PMID:12403825|PMID:12859417|PMID:19224584|PMID:25741868|PMID:26908836|PMID:28124119|PMID:28492532|PMID:28884947|PMID:29698805|PMID:30413728|PMID:30838730|PMID:7573038|PMID:8089138|PMID:8644704|PMID:9490302|PMID:9921904 12018275 GUSB glucuronidase beta gene DOID:12803 Sly syndrome ISO RGD:737258 D RGD:7240710 20180130 OMIM 12018275 GUSB glucuronidase beta gene DOID:12803 Sly syndrome ISO RGD:737258 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MPS VII | ClinVar Annotator: match by term: Mucopolysaccharidosis type VII | ClinVar Annotator: match by term: Sly syndrome PMID:11226217|PMID:12403825|PMID:12522561|PMID:12859417|PMID:144057|PMID:14711113|PMID:16199547|PMID:1702266|PMID:17576681|PMID:1779626|PMID:1833732|PMID:19224584|PMID:1992472|PMID:2115490|PMID:21504867|PMID:23777470|PMID:24033266|PMID:24260279|PMID:25741868|PMID:26036949|PMID:26415878|PMID:26908836|PMID:28124119|PMID:28492532|PMID:28595941|PMID:28884947|PMID:29620724|PMID:29698805|PMID:30410095|PMID:30413728|PMID:30442200|PMID:30653816|PMID:30838730|PMID:31130284|PMID:31497474|PMID:33686258|PMID:6811712|PMID:7573038|PMID:7633414|PMID:7633417|PMID:7680524|PMID:8089138|PMID:8111412|PMID:8111413|PMID:8644704|PMID:8707294|PMID:9099834|PMID:9224584|PMID:9490302|PMID:9536098|PMID:9921904 12018275 GUSB glucuronidase beta gene DOID:14755 argininosuccinic aciduria ISO RGD:737258 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Argininosuccinic Aciduria PMID:19224584|PMID:28492532 12018275 GUSB glucuronidase beta gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:737258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12018275 GUSB glucuronidase beta gene DOID:576 proteinuria ISO RGD:737258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2880436 12018275 GUSB glucuronidase beta gene DOID:630 genetic disease ISO RGD:737258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12018275 GUSB glucuronidase beta gene DOID:8283 peritonitis ISO RGD:2772 D RGD:9068941 20210305 RGD protein:altered expression:peritoneal cells (rat) PMID:185091|REF_RGD_ID:42722008 12018275 GUSB glucuronidase beta gene DOID:863 nervous system disease ISO RGD:737258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7073948|PMID:7107415 12018275 GUSB glucuronidase beta gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2772 D RGD:9068941 20210312 RGD PMID:827200|REF_RGD_ID:42724460 12018275 GUSB glucuronidase beta gene DOID:9008386 Hydrops Fetalis ISO RGD:737258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:1702266|PMID:1779626|PMID:19224584|PMID:25741868|PMID:26036949|PMID:28492532|PMID:29620724|PMID:31130284|PMID:31497474|PMID:7573038|PMID:7680524|PMID:8644704|PMID:9099834 12018275 GUSB glucuronidase beta gene DOID:9008821 Otitis Media with Effusion ISO RGD:8837974 D RGD:9068941 20200609 RGD PMID:2837976|REF_RGD_ID:11557999 12018291 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23252400|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31584066|PMID:9536098 12018291 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603708 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23252400|PMID:25640679|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31584066|PMID:9536098 12018291 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0080414 developmental and epileptic encephalopathy 15 ISO RGD:1603708 D RGD:7240710 20180130 OMIM 12018291 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0080414 developmental and epileptic encephalopathy 15 ISO RGD:1603708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 15 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 15 | ClinVar Annotator: match by term: Epilepsy due to perinatal stroke PMID:16199547|PMID:18414213|PMID:23252400|PMID:25741868|PMID:28492532|PMID:30089820|PMID:31584066 12018291 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1603708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 12018291 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0081180 autosomal recessive intellectual developmental disorder 12 ISO RGD:1603708 D RGD:7240710 20180130 OMIM 12018291 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0081180 autosomal recessive intellectual developmental disorder 12 ISO RGD:1603708 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 12 PMID:17120046|PMID:18414213|PMID:21907012|PMID:25741868|PMID:28492532|PMID:31584066|PMID:32666583 12018291 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12018291 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603708 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23252400|PMID:25640679|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31584066|PMID:9536098 12018291 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:1059 intellectual disability ISO RGD:1603708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:28492532|PMID:32666583 12018291 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:2383 neonatal jaundice ISO RGD:1603708 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neonatal jaundice PMID:25741868|PMID:32666583 12018291 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:630 genetic disease ISO RGD:1603708 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31584066 12018291 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1603708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized myoclonic seizures PMID:25741868|PMID:28492532 12018291 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:9007114 Mobility Limitation ISO RGD:1603708 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Difficulty walking PMID:25741868|PMID:32666583 12018339 LOC100982486 olfactory receptor 5B3 gene DOID:1059 intellectual disability ISO RGD:1354314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12018339 LOC100982486 olfactory receptor 5B3 gene DOID:630 genetic disease ISO RGD:1354314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018342 ZNF530 zinc finger protein 530 gene DOID:5419 schizophrenia ISO RGD:1350299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12018342 ZNF530 zinc finger protein 530 gene DOID:630 genetic disease ISO RGD:1350299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018361 DAP3 death associated protein 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1313309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12018361 DAP3 death associated protein 3 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1313309 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532|PMID:30684668|PMID:31463572 12018361 DAP3 death associated protein 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1313309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12018361 DAP3 death associated protein 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1313309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12018361 DAP3 death associated protein 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1313309 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12018361 DAP3 death associated protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1313309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12018361 DAP3 death associated protein 3 gene DOID:5812 MHC class II deficiency ISO RGD:1313309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12018361 DAP3 death associated protein 3 gene DOID:630 genetic disease ISO RGD:1313309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018361 DAP3 death associated protein 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1313309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 12018361 DAP3 death associated protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12018384 LOC100992356 olfactory receptor 1D2 gene DOID:630 genetic disease ISO RGD:1353920 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018388 SPATA9 spermatogenesis associated 9 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1317981 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12018388 SPATA9 spermatogenesis associated 9 gene DOID:630 genetic disease ISO RGD:1317981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018388 SPATA9 spermatogenesis associated 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12018388 SPATA9 spermatogenesis associated 9 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317981 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12018414 MSRA methionine sulfoxide reductase A gene DOID:12849 autistic disorder ISO RGD:737220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12018414 MSRA methionine sulfoxide reductase A gene DOID:303 substance-related disorder ISO RGD:737220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12018414 MSRA methionine sulfoxide reductase A gene DOID:5419 schizophrenia ISO RGD:737220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12018414 MSRA methionine sulfoxide reductase A gene DOID:630 genetic disease ISO RGD:737220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018414 MSRA methionine sulfoxide reductase A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12018415 CHCHD5 coiled-coil-helix-coiled-coil-helix domain containing 5 gene DOID:630 genetic disease ISO RGD:1317218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018440 LOC100967703 cytochrome c oxidase assembly factor 5 gene DOID:0080357 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 ISO RGD:1604134 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12018440 LOC100967703 cytochrome c oxidase assembly factor 5 gene DOID:0080359 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 ISO RGD:1604134 D RGD:7240710 20180130 OMIM 12018440 LOC100967703 cytochrome c oxidase assembly factor 5 gene DOID:0080359 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 ISO RGD:1604134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 PMID:21457908 12018440 LOC100967703 cytochrome c oxidase assembly factor 5 gene DOID:630 genetic disease ISO RGD:1604134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018450 PKDCC protein kinase domain containing, cytoplasmic gene DOID:3883 Lynch syndrome ISO RGD:1605897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12018450 PKDCC protein kinase domain containing, cytoplasmic gene DOID:630 genetic disease ISO RGD:1605897 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:19097194|PMID:28492532|PMID:30478137|PMID:36896672 12018450 PKDCC protein kinase domain containing, cytoplasmic gene DOID:9003152 RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES ISO RGD:1605897 D RGD:7240710 20200819 OMIM 12018450 PKDCC protein kinase domain containing, cytoplasmic gene DOID:9003152 RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES ISO RGD:1605897 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Rhizomelic limb shortening with dysmorphic features PMID:16199547|PMID:19097194|PMID:25741868|PMID:28492532|PMID:30478137|PMID:36896672 12018450 PKDCC protein kinase domain containing, cytoplasmic gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12018463 SCPEP1 serine carboxypeptidase 1 gene DOID:0050777 Joubert syndrome ISO RGD:1351146 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12018463 SCPEP1 serine carboxypeptidase 1 gene DOID:0080600 COVID-19 ISO RGD:1351146 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12018463 SCPEP1 serine carboxypeptidase 1 gene DOID:630 genetic disease ISO RGD:1351146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018480 AMH anti-Mullerian hormone gene DOID:0050791 persistent Mullerian duct syndrome ISO RGD:736161 D RGD:7240710 20180130 OMIM 12018480 AMH anti-Mullerian hormone gene DOID:0050791 persistent Mullerian duct syndrome ISO RGD:736161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Persistent Mullerian duct syndrome | ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type I PMID:11760020|PMID:1483695|PMID:1809231|PMID:2023927|PMID:24033266|PMID:2562843|PMID:25741868|PMID:28492532|PMID:28528332|PMID:30668521|PMID:30786001|PMID:31277073|PMID:31291191|PMID:32172781 12018480 AMH anti-Mullerian hormone gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:736161 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 12018480 AMH anti-Mullerian hormone gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:736161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12018480 AMH anti-Mullerian hormone gene DOID:11612 polycystic ovary syndrome ISO RGD:736161 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17224152|REF_RGD_ID:1601181 12018480 AMH anti-Mullerian hormone gene DOID:13501 Moebius syndrome ISO RGD:736161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum PMID:25741868 12018480 AMH anti-Mullerian hormone gene DOID:1612 breast cancer onset ISO RGD:736161 D RGD:9068941 20200609 RGD PMID:19820206|REF_RGD_ID:2315637 12018480 AMH anti-Mullerian hormone gene DOID:1923 disorder of sexual development susceptibility ISO RGD:736161 D RGD:9068941 20200609 RGD Persistent Mullerian Duct Syndrome type I, OMIM:261550;DNA:deletion, nonsense mutation:exon PMID:1483695|REF_RGD_ID:1601180 12018480 AMH anti-Mullerian hormone gene DOID:2999 granulosa cell tumor disease_progression ISO RGD:736161 D RGD:9068941 20200609 RGD PMID:19359032|REF_RGD_ID:2315639 12018480 AMH anti-Mullerian hormone gene DOID:4001 ovarian carcinoma treatment ISO RGD:736161 D RGD:9068941 20200626 RGD PMID:16533786|REF_RGD_ID:2315652 12018480 AMH anti-Mullerian hormone gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 12018480 AMH anti-Mullerian hormone gene DOID:630 genetic disease ISO RGD:736161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12018480 AMH anti-Mullerian hormone gene DOID:9002739 Female Urogenital Diseases ISO RGD:736161 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 12018480 AMH anti-Mullerian hormone gene DOID:9002762 Ovarian Neoplasms ISO RGD:736161 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ovary PMID:19424576|REF_RGD_ID:2315638 12018480 AMH anti-Mullerian hormone gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12018480 AMH anti-Mullerian hormone gene DOID:9970 obesity ISO RGD:736161 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17109858|REF_RGD_ID:1601182 12018488 LOC100971558 olfactory receptor 2G6 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1603468 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12018488 LOC100971558 olfactory receptor 2G6 gene DOID:1540 parathyroid carcinoma ISO RGD:1603468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12018488 LOC100971558 olfactory receptor 2G6 gene DOID:630 genetic disease ISO RGD:1603468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018488 LOC100971558 olfactory receptor 2G6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12018501 TP53BP1 tumor protein p53 binding protein 1 gene DOID:0080107 microcephaly and chorioretinopathy 3 ISO RGD:1317577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 3 PMID:24033266|PMID:25741868|PMID:25817018|PMID:28492532 12018501 TP53BP1 tumor protein p53 binding protein 1 gene DOID:1793 pancreatic cancer ISO RGD:1317578 D RGD:9068941 20200609 RGD PMID:11585747|REF_RGD_ID:2325154 12018501 TP53BP1 tumor protein p53 binding protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1317577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12018501 TP53BP1 tumor protein p53 binding protein 1 gene DOID:3068 glioblastoma ISO RGD:1317577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12018501 TP53BP1 tumor protein p53 binding protein 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1317577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12018501 TP53BP1 tumor protein p53 binding protein 1 gene DOID:630 genetic disease ISO RGD:1317577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018501 TP53BP1 tumor protein p53 binding protein 1 gene DOID:6432 pulmonary hypertension ISO RGD:1317577 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:24270264|REF_RGD_ID:9586752 12018501 TP53BP1 tumor protein p53 binding protein 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1317577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12018501 TP53BP1 tumor protein p53 binding protein 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1317577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12018501 TP53BP1 tumor protein p53 binding protein 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1317577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12018501 TP53BP1 tumor protein p53 binding protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1317577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12018501 TP53BP1 tumor protein p53 binding protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1317578 D RGD:9068941 20200609 RGD PMID:12374701|REF_RGD_ID:2325153 12018501 TP53BP1 tumor protein p53 binding protein 1 gene DOID:9256 colorectal cancer ISO RGD:1317577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12018536 IMP3 IMP U3 small nucleolar ribonucleoprotein 3 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1315660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 12018536 IMP3 IMP U3 small nucleolar ribonucleoprotein 3 gene DOID:1826 epilepsy ISO RGD:1315660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12018536 IMP3 IMP U3 small nucleolar ribonucleoprotein 3 gene DOID:2717 Bloom syndrome ISO RGD:1315660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12018536 IMP3 IMP U3 small nucleolar ribonucleoprotein 3 gene DOID:5419 schizophrenia ISO RGD:1315660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12018536 IMP3 IMP U3 small nucleolar ribonucleoprotein 3 gene DOID:630 genetic disease ISO RGD:1315660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018536 IMP3 IMP U3 small nucleolar ribonucleoprotein 3 gene DOID:9256 colorectal cancer ISO RGD:1315660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12018553 DPH5 diphthamide biosynthesis 5 gene DOID:1826 epilepsy ISO RGD:1602122 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12018553 DPH5 diphthamide biosynthesis 5 gene DOID:630 genetic disease ISO RGD:1602122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018553 DPH5 diphthamide biosynthesis 5 gene DOID:9008919 Neurodevelopmental Disorder with Short Stature, Prominent Forehead, and Feeding Difficulties ISO RGD:1602122 D RGD:7240710 20221109 OMIM 12018553 DPH5 diphthamide biosynthesis 5 gene DOID:9008919 Neurodevelopmental Disorder with Short Stature, Prominent Forehead, and Feeding Difficulties ISO RGD:1602122 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties PMID:25741868|PMID:35482014 12018553 DPH5 diphthamide biosynthesis 5 gene DOID:9269 maple syrup urine disease ISO RGD:1602122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 12018585 PPP1R3A protein phosphatase 1 regulatory subunit 3A gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1343572 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25741868|PMID:7581368 12018585 PPP1R3A protein phosphatase 1 regulatory subunit 3A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12018585 PPP1R3A protein phosphatase 1 regulatory subunit 3A gene DOID:630 genetic disease ISO RGD:1343572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018585 PPP1R3A protein phosphatase 1 regulatory subunit 3A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12018585 PPP1R3A protein phosphatase 1 regulatory subunit 3A gene DOID:9007692 Insulin Resistance ISO RGD:1343572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Insulin resistance, susceptibility to PMID:25741868|PMID:7581368 12018585 PPP1R3A protein phosphatase 1 regulatory subunit 3A gene DOID:9351 diabetes mellitus ISO RGD:1343572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:12118251|PMID:25741868|PMID:28492532 12018585 PPP1R3A protein phosphatase 1 regulatory subunit 3A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343572 D RGD:7240710 20190315 OMIM 12018585 PPP1R3A protein phosphatase 1 regulatory subunit 3A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Insulin resistance, severe, digenic | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:12118251|PMID:25741868|PMID:7581368 12018585 PPP1R3A protein phosphatase 1 regulatory subunit 3A gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1343572 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.D905Y (human) PMID:10868947|PMID:9653600|REF_RGD_ID:2311515|REF_RGD_ID:2311552 12018585 PPP1R3A protein phosphatase 1 regulatory subunit 3A gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:1343572 D RGD:9068941 20200609 RGD DNA:insertion/deletion PMID:12831406|REF_RGD_ID:2311596 12018585 PPP1R3A protein phosphatase 1 regulatory subunit 3A gene DOID:9993 hypoglycemia ISO RGD:1343572 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:insertion/deletion:3' UTR (human) PMID:9814479|REF_RGD_ID:1601469 12018593 MRPL41 mitochondrial ribosomal protein L41 gene DOID:0050777 Joubert syndrome ISO RGD:1321029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12018593 MRPL41 mitochondrial ribosomal protein L41 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1321029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 12018593 MRPL41 mitochondrial ribosomal protein L41 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1321029 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 12018593 MRPL41 mitochondrial ribosomal protein L41 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12018593 MRPL41 mitochondrial ribosomal protein L41 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1321029 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12018593 MRPL41 mitochondrial ribosomal protein L41 gene DOID:0081097 Rafiq syndrome ISO RGD:1321029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12018593 MRPL41 mitochondrial ribosomal protein L41 gene DOID:1826 epilepsy ISO RGD:1321029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12018593 MRPL41 mitochondrial ribosomal protein L41 gene DOID:630 genetic disease ISO RGD:1321029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018593 MRPL41 mitochondrial ribosomal protein L41 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1321029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12018599 HCFC2 host cell factor C2 gene DOID:630 genetic disease ISO RGD:1316555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018619 DYRK2 dual specificity tyrosine phosphorylation regulated kinase 2 gene DOID:630 genetic disease ISO RGD:1323814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018619 DYRK2 dual specificity tyrosine phosphorylation regulated kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323814 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12018632 RAP1A RAP1A, member of RAS oncogene family gene DOID:630 genetic disease ISO RGD:1352228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018632 RAP1A RAP1A, member of RAS oncogene family gene DOID:9004912 Hyperoxaluria ISO RGD:1359694 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:23091645|REF_RGD_ID:10040961 12018632 RAP1A RAP1A, member of RAS oncogene family gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:1359694 D RGD:9068941 20200609 RGD PMID:20501665|REF_RGD_ID:10003160 12018644 AKAP12 A-kinase anchoring protein 12 gene DOID:0050458 juvenile myelomonocytic leukemia disease_progression ISO RGD:737243 D RGD:9068941 20200609 RGD PMID:26891149|REF_RGD_ID:14348967 12018644 AKAP12 A-kinase anchoring protein 12 gene DOID:0080199 colorectal carcinoma treatment ISO RGD:737243 D RGD:9068941 20200609 RGD PMID:21918680|REF_RGD_ID:14348959 12018644 AKAP12 A-kinase anchoring protein 12 gene DOID:0080600 COVID-19 ISO RGD:737243 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12018644 AKAP12 A-kinase anchoring protein 12 gene DOID:11446 sciatic neuropathy ISO RGD:70988 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal cord: PMID:19937403|REF_RGD_ID:14348968 12018644 AKAP12 A-kinase anchoring protein 12 gene DOID:2316 brain ischemia ISO RGD:70988 D RGD:9068941 20200609 RGD PMID:21334414|REF_RGD_ID:14348963 12018644 AKAP12 A-kinase anchoring protein 12 gene DOID:3347 osteosarcoma ISO RGD:70988 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:osteoblast: PMID:19825367|REF_RGD_ID:5147850 12018644 AKAP12 A-kinase anchoring protein 12 gene DOID:5082 liver cirrhosis ISO RGD:70988 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver PMID:23925424|REF_RGD_ID:14348971 12018644 AKAP12 A-kinase anchoring protein 12 gene DOID:630 genetic disease ISO RGD:737243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018644 AKAP12 A-kinase anchoring protein 12 gene DOID:784 chronic kidney disease susceptibility ISO RGD:737243 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs756009(human) PMID:19724895|REF_RGD_ID:14349027 12018644 AKAP12 A-kinase anchoring protein 12 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:70988 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal cord PMID:20155814|REF_RGD_ID:14348972 12018644 AKAP12 A-kinase anchoring protein 12 gene DOID:9004610 Acute Lung Injury ISO RGD:70988 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung PMID:23912647|REF_RGD_ID:14348970 12018644 AKAP12 A-kinase anchoring protein 12 gene DOID:9008939 Breast Neoplasms ISO RGD:737243 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 12018654 C2CD2 C2 calcium dependent domain containing 2 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1351796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12018654 C2CD2 C2 calcium dependent domain containing 2 gene DOID:0110266 cataract 9 multiple types ISO RGD:1351796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12018654 C2CD2 C2 calcium dependent domain containing 2 gene DOID:630 genetic disease ISO RGD:1351796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018654 C2CD2 C2 calcium dependent domain containing 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1351796 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12018654 C2CD2 C2 calcium dependent domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12018654 C2CD2 C2 calcium dependent domain containing 2 gene DOID:9263 homocystinuria ISO RGD:1351796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12018654 C2CD2 C2 calcium dependent domain containing 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12018703 NINL ninein like gene DOID:0060041 autism spectrum disorder ISO RGD:1604826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12018703 NINL ninein like gene DOID:12849 autistic disorder ISO RGD:1604826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12018703 NINL ninein like gene DOID:630 genetic disease ISO RGD:1604826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018746 RPSA ribosomal protein SA gene DOID:0110074 arrhythmogenic right ventricular dysplasia 5 ISO RGD:1615177 D RGD:9068941 20220825 MouseDO OMIM:604400 12018746 RPSA ribosomal protein SA gene DOID:11446 sciatic neuropathy ISO RGD:71026 D RGD:9068941 20200609 RGD PMID:19196078|REF_RGD_ID:11041651 12018746 RPSA ribosomal protein SA gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1615177 D RGD:9068941 20220825 MouseDO OMIM:105650 | OMIM:606129 | OMIM:610629 | OMIM:612527 | OMIM:612528 | OMIM:612561 | OMIM:612562 | OMIM:612563 | OMIM:613308 | OMIM:613309 | OMIM:614900 | OMIM:615550 | OMIM:615909 12018746 RPSA ribosomal protein SA gene DOID:3910 lung adenocarcinoma ISO RGD:1344885 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12018746 RPSA ribosomal protein SA gene DOID:9000039 Spinal Cord Injuries ISO RGD:71026 D RGD:9068941 20200609 RGD PMID:19196078|REF_RGD_ID:11041651 12018746 RPSA ribosomal protein SA gene DOID:9003735 Splenic Hypoplasia ISO RGD:1344885 D RGD:7240710 20180130 OMIM 12018746 RPSA ribosomal protein SA gene DOID:9003735 Splenic Hypoplasia ISO RGD:1344885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asplenia, isolated congenital PMID:20846672|PMID:22560297|PMID:23579497|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9162158 12018746 RPSA ribosomal protein SA gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1344885 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 12018746 RPSA ribosomal protein SA gene DOID:9006205 Animal Disease Models ISO RGD:1344885 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12018746 RPSA ribosomal protein SA gene DOID:9778 irritable bowel syndrome ISO RGD:71026 D RGD:9068941 20200609 RGD PMID:20461717|REF_RGD_ID:5686874 12018757 TOP3B DNA topoisomerase III beta gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1319825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 12018757 TOP3B DNA topoisomerase III beta gene DOID:11198 DiGeorge syndrome ISO RGD:1319825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 12018757 TOP3B DNA topoisomerase III beta gene DOID:12849 autistic disorder ISO RGD:1319825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12018757 TOP3B DNA topoisomerase III beta gene DOID:5419 schizophrenia ISO RGD:1319825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12018757 TOP3B DNA topoisomerase III beta gene DOID:630 genetic disease ISO RGD:1319825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018791 SPEN spen family transcriptional repressor gene DOID:0060041 autism spectrum disorder ISO RGD:1350979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12018791 SPEN spen family transcriptional repressor gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1350979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12018791 SPEN spen family transcriptional repressor gene DOID:2661 myoepithelioma ISO RGD:1350979 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12018791 SPEN spen family transcriptional repressor gene DOID:3007 breast ductal carcinoma ISO RGD:1350979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12018791 SPEN spen family transcriptional repressor gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1350979 D RGD:9068941 20220128 RGD associated with Neoplasm Metastasis; DNA:mutations PMID:33363385|REF_RGD_ID:151347445 12018791 SPEN spen family transcriptional repressor gene DOID:630 genetic disease ISO RGD:1350979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28191890|PMID:33004838|PMID:33596411 12018791 SPEN spen family transcriptional repressor gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12018791 SPEN spen family transcriptional repressor gene DOID:9006249 RADIO-TARTAGLIA SYNDROME ISO RGD:1350979 D RGD:7240710 20210623 OMIM 12018791 SPEN spen family transcriptional repressor gene DOID:9006249 RADIO-TARTAGLIA SYNDROME ISO RGD:1350979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Radio-Tartaglia syndrome PMID:25741868|PMID:33596411 12018791 SPEN spen family transcriptional repressor gene DOID:9008582 Developmental Disease ISO RGD:1350979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12018791 SPEN spen family transcriptional repressor gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:1350979 D RGD:9068941 20220128 RGD protein:increased expression:mucosa of nasopharynx (human) PMID:32641685|REF_RGD_ID:151347437 12018791 SPEN spen family transcriptional repressor gene DOID:936 brain disease ISO RGD:1350979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868|PMID:33596411 12018822 ROBO3 roundabout guidance receptor 3 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1322248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12018822 ROBO3 roundabout guidance receptor 3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1322248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12018822 ROBO3 roundabout guidance receptor 3 gene DOID:12849 autistic disorder ISO RGD:1322248 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18270976 12018822 ROBO3 roundabout guidance receptor 3 gene DOID:5419 schizophrenia ISO RGD:1322248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12018822 ROBO3 roundabout guidance receptor 3 gene DOID:630 genetic disease ISO RGD:1322248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32580277 12018822 ROBO3 roundabout guidance receptor 3 gene DOID:9000998 Brain Injuries ISO RGD:1311018 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:16262652|REF_RGD_ID:2316136 12018822 ROBO3 roundabout guidance receptor 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12018822 ROBO3 roundabout guidance receptor 3 gene DOID:9004787 Familial Horizontal Gaze Palsy with Progressive Scoliosis ISO RGD:1322248 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12018822 ROBO3 roundabout guidance receptor 3 gene DOID:9004843 Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 ISO RGD:1322248 D RGD:7240710 20190327 OMIM 12018822 ROBO3 roundabout guidance receptor 3 gene DOID:9004843 Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 ISO RGD:1322248 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis 1 PMID:15105459|PMID:16525029|PMID:16772357|PMID:18829051|PMID:19041479|PMID:19633821|PMID:21850172|PMID:24969490|PMID:25326635|PMID:25741868|PMID:27318526|PMID:28024310|PMID:28492532|PMID:29215389|PMID:32373565|PMID:32580277|PMID:32860008|PMID:34374989 12018822 ROBO3 roundabout guidance receptor 3 gene DOID:9007661 Dwarfism ISO RGD:1322248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12018857 NRBF2 nuclear receptor binding factor 2 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1346110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 12018857 NRBF2 nuclear receptor binding factor 2 gene DOID:308 early myoclonic encephalopathy ISO RGD:1346110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy PMID:28492532 12018857 NRBF2 nuclear receptor binding factor 2 gene DOID:630 genetic disease ISO RGD:1346110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018870 PRR36 proline rich 36 gene DOID:630 genetic disease ISO RGD:9588105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018879 KCNC4 potassium voltage-gated channel subfamily C member 4 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1348258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 12018879 KCNC4 potassium voltage-gated channel subfamily C member 4 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1348258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12018879 KCNC4 potassium voltage-gated channel subfamily C member 4 gene DOID:10652 Alzheimer's disease ISO RGD:1348258 D RGD:9068941 20200609 RGD mRNA, protein:increased expression: frontal cortex PMID:15485486|REF_RGD_ID:10411900 12018879 KCNC4 potassium voltage-gated channel subfamily C member 4 gene DOID:10652 Alzheimer's disease ISO RGD:1616662 D RGD:9068941 20200609 RGD mRNA:decreased expression:neocortex (mouse) PMID:21912965|REF_RGD_ID:9686062 12018879 KCNC4 potassium voltage-gated channel subfamily C member 4 gene DOID:11446 sciatic neuropathy ISO RGD:1589169 D RGD:9068941 20200609 RGD PMID:17855600|REF_RGD_ID:10411908 12018879 KCNC4 potassium voltage-gated channel subfamily C member 4 gene DOID:12849 autistic disorder ISO RGD:1348258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12018879 KCNC4 potassium voltage-gated channel subfamily C member 4 gene DOID:1824 status epilepticus ISO RGD:1589169 D RGD:9068941 20200609 RGD PMID:20971086|REF_RGD_ID:10411905 12018879 KCNC4 potassium voltage-gated channel subfamily C member 4 gene DOID:1824 status epilepticus ISO RGD:1589169 D RGD:9068941 20200609 RGD mRNA:decreased expression:subiculum, perirhinal cortex, entorhinal cortex (rat) PMID:17942314|REF_RGD_ID:9686050 12018879 KCNC4 potassium voltage-gated channel subfamily C member 4 gene DOID:3328 temporal lobe epilepsy ISO RGD:1348258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20971086 12018879 KCNC4 potassium voltage-gated channel subfamily C member 4 gene DOID:630 genetic disease ISO RGD:1348258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018879 KCNC4 potassium voltage-gated channel subfamily C member 4 gene DOID:9002211 Hyperalgesia ISO RGD:1589169 D RGD:9068941 20200609 RGD PMID:17855600|REF_RGD_ID:10411908 12018892 SPMIP11 sperm microtubule inner protein 11 gene DOID:630 genetic disease ISO RGD:7245055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018892 SPMIP11 sperm microtubule inner protein 11 gene DOID:9002593 Lethal Congenital Contracture Syndrome 8 ISO RGD:7245055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 8 PMID:24319099 12018901 FASTKD3 FAST kinase domains 3 gene DOID:630 genetic disease ISO RGD:1604298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12018943 SCN11A sodium voltage-gated channel alpha subunit 11 gene DOID:0050451 Brugada syndrome ISO RGD:1342640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 12018943 SCN11A sodium voltage-gated channel alpha subunit 11 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:735313 D RGD:9068941 20220825 MouseDO 12018943 SCN11A sodium voltage-gated channel alpha subunit 11 gene DOID:0070145 hereditary sensory and autonomic neuropathy type 5 ISO RGD:1342640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers PMID:24207120|PMID:25741868 12018943 SCN11A sodium voltage-gated channel alpha subunit 11 gene DOID:0070149 hereditary sensory and autonomic neuropathy type 7 ISO RGD:1342640 D RGD:7240710 20180130 OMIM 12018943 SCN11A sodium voltage-gated channel alpha subunit 11 gene DOID:0070149 hereditary sensory and autonomic neuropathy type 7 ISO RGD:1342640 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 7 PMID:16199547|PMID:17576681|PMID:24036948|PMID:24207120|PMID:24776970|PMID:25118027|PMID:25741868|PMID:25791876|PMID:26220970|PMID:26423924|PMID:26746779|PMID:27224030|PMID:27503742|PMID:27781142|PMID:28166811|PMID:28289907|PMID:28298626|PMID:28492532|PMID:29213238|PMID:29389947|PMID:29419974|PMID:30046661|PMID:30395542|PMID:30533233|PMID:30554136|PMID:30557356|PMID:32581362|PMID:34169998|PMID:9536098 12018943 SCN11A sodium voltage-gated channel alpha subunit 11 gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:1342640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:24776970|PMID:25741868|PMID:28492532 12018943 SCN11A sodium voltage-gated channel alpha subunit 11 gene DOID:0111731 familial episodic pain syndrome 3 ISO RGD:1342640 D RGD:7240710 20180130 OMIM 12018943 SCN11A sodium voltage-gated channel alpha subunit 11 gene DOID:0111731 familial episodic pain syndrome 3 ISO RGD:1342640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Episodic pain syndrome, familial, 3 PMID:24207120|PMID:24776970|PMID:25741868|PMID:25791876|PMID:28298626|PMID:28492532|PMID:30046661|PMID:30554136|PMID:30557356 12018943 SCN11A sodium voltage-gated channel alpha subunit 11 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1342640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:16199547|PMID:24776970|PMID:25741868|PMID:25791876|PMID:28492532|PMID:29213238|PMID:30554136 12018943 SCN11A sodium voltage-gated channel alpha subunit 11 gene DOID:2491 sensory peripheral neuropathy ISO RGD:1342640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensory neuropathy PMID:28492532|PMID:32581362 12018943 SCN11A sodium voltage-gated channel alpha subunit 11 gene DOID:630 genetic disease ISO RGD:1342640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:24207120|PMID:24776970|PMID:25741868|PMID:25791876|PMID:28166811|PMID:28298626|PMID:28492532|PMID:29213238|PMID:30046661|PMID:30533233|PMID:30554136|PMID:30557356|PMID:32581362|PMID:34169998|PMID:9536098 12018943 SCN11A sodium voltage-gated channel alpha subunit 11 gene DOID:9002211 Hyperalgesia ISO RGD:1342640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23264124 12018943 SCN11A sodium voltage-gated channel alpha subunit 11 gene DOID:9008482 Congenital Pain Insensitivity ISO RGD:1342640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24036948 12018943 SCN11A sodium voltage-gated channel alpha subunit 11 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1342640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 12018981 ASS1 argininosuccinate synthase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:736136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12018981 ASS1 argininosuccinate synthase 1 gene DOID:0070340 classic citrullinemia ISO RGD:736136 D RGD:7240710 20200228 OMIM 12018981 ASS1 argininosuccinate synthase 1 gene DOID:0070340 classic citrullinemia ISO RGD:736136 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Citrullinemia type I PMID:10987146|PMID:11211875|PMID:11571557|PMID:11708871|PMID:11738042|PMID:11941481|PMID:12684898|PMID:12815590|PMID:14680976|PMID:15266621|PMID:15334737|PMID:15863597|PMID:16124451|PMID:16199547|PMID:16475226|PMID:17576681|PMID:18473344|PMID:18666241|PMID:18925679|PMID:19006241|PMID:19358837|PMID:1943692|PMID:19684305|PMID:20005624|PMID:20818742|PMID:21227727|PMID:21228398|PMID:21244552|PMID:21483992|PMID:22106832|PMID:2246255|PMID:22473243|PMID:22494545|PMID:22768672|PMID:23094117|PMID:23099195|PMID:23246278|PMID:23430935|PMID:2358466|PMID:23611581|PMID:23780642|PMID:24033266|PMID:24508627|PMID:24713661|PMID:24765495|PMID:24889030|PMID:25047749|PMID:25087612|PMID:25179242|PMID:25433810|PMID:25537548|PMID:25741868|PMID:26117549|PMID:2615645|PMID:26206375|PMID:27287393|PMID:27629047|PMID:28111830|PMID:28132756|PMID:28302489|PMID:28492532|PMID:29378745|PMID:30285816|PMID:30612563|PMID:30904546|PMID:31056765|PMID:31208364|PMID:3146925|PMID:31469252|PMID:31737040|PMID:32778825|PMID:32860008|PMID:33851512|PMID:4680976|PMID:7557970|PMID:7977368|PMID:8792870|PMID:9090528|PMID:934749|PMID:9536098 12018981 ASS1 argininosuccinate synthase 1 gene DOID:10652 Alzheimer's disease ISO RGD:736136 D RGD:9068941 20200609 RGD protein:increased expression:brain, glial cell (human) PMID:11556547|REF_RGD_ID:4139898 12018981 ASS1 argininosuccinate synthase 1 gene DOID:11713 diabetic angiopathy ISO RGD:736136 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25033204 12018981 ASS1 argininosuccinate synthase 1 gene DOID:13141 uveitis ISO RGD:2163 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:eye (rat) PMID:12470967|REF_RGD_ID:631755 12018981 ASS1 argininosuccinate synthase 1 gene DOID:1909 melanoma ISO RGD:736136 D RGD:9068941 20200609 RGD PMID:12359751|REF_RGD_ID:4140479 12018981 ASS1 argininosuccinate synthase 1 gene DOID:409 liver disease ISO RGD:736136 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31651977 12018981 ASS1 argininosuccinate synthase 1 gene DOID:630 genetic disease ISO RGD:736136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11708871|PMID:11941481|PMID:12815590|PMID:16475226|PMID:17576681|PMID:18473344|PMID:19006241|PMID:19358837|PMID:19684305|PMID:20005624|PMID:20818742|PMID:23246278|PMID:23430935|PMID:2358466|PMID:25433810|PMID:25741868|PMID:27287393|PMID:28111830|PMID:28492532|PMID:30285816|PMID:31469252|PMID:7557970|PMID:7977368|PMID:8792870|PMID:9536098 12018981 ASS1 argininosuccinate synthase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736136 D RGD:9068941 20200609 RGD PMID:12359751|REF_RGD_ID:4140479 12018981 ASS1 argininosuccinate synthase 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736136 D RGD:9068941 20220616 RGD associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 12018981 ASS1 argininosuccinate synthase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2163 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:19914391|REF_RGD_ID:4140452 12018981 ASS1 argininosuccinate synthase 1 gene DOID:9002669 Hypoxia ISO RGD:2163 D RGD:9068941 20200609 RGD protein:increased activity:brain (rat) PMID:20567615|REF_RGD_ID:4110824 12018981 ASS1 argininosuccinate synthase 1 gene DOID:9004009 Reperfusion Injury resistance ISO RGD:2163 D RGD:9068941 20200609 RGD protein:increased expression:brain, neuron (rat) PMID:17198704|REF_RGD_ID:1599263 12018981 ASS1 argininosuccinate synthase 1 gene DOID:9004590 Acute Liver Failure ISO RGD:736136 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 12018981 ASS1 argininosuccinate synthase 1 gene DOID:9004713 Acute-Phase Reaction ISO RGD:2163 D RGD:9068941 20200609 RGD PMID:15698416|REF_RGD_ID:1599305 12018981 ASS1 argininosuccinate synthase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2163 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta (rat) PMID:11384198|REF_RGD_ID:1599310 12018981 ASS1 argininosuccinate synthase 1 gene DOID:9005930 Endotoxemia ISO RGD:2163 D RGD:9068941 20200609 RGD PMID:10652239|REF_RGD_ID:1599265 12018981 ASS1 argininosuccinate synthase 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:2163 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:20544730|REF_RGD_ID:4140449 12018981 ASS1 argininosuccinate synthase 1 gene DOID:9007480 Hyperoxia ISO RGD:2163 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:20805789|REF_RGD_ID:4142785 12018981 ASS1 argininosuccinate synthase 1 gene DOID:9007874 Liver Failure ISO RGD:2163 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:11779202|REF_RGD_ID:70249 12018981 ASS1 argininosuccinate synthase 1 gene DOID:9008972 Hyperammonemia ISO RGD:2163 D RGD:9068941 20200609 RGD PMID:10353334|REF_RGD_ID:1599267 12018981 ASS1 argininosuccinate synthase 1 gene DOID:9273 citrullinemia ISO RGD:736136 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinemia, mild | ClinVar Annotator: match by term: Citrullinuria PMID:10987146|PMID:11211875|PMID:11571557|PMID:11708871|PMID:11738042|PMID:11941481|PMID:12684898|PMID:12815590|PMID:14680976|PMID:15266621|PMID:15334737|PMID:15863597|PMID:16124451|PMID:16199547|PMID:16475226|PMID:17576681|PMID:18473344|PMID:18666241|PMID:18925679|PMID:19006241|PMID:19358837|PMID:1943692|PMID:21227727|PMID:21228398|PMID:21244552|PMID:21483992|PMID:22106832|PMID:2246255|PMID:22473243|PMID:22494545|PMID:22768672|PMID:23094117|PMID:23099195|PMID:23246278|PMID:23430935|PMID:2358466|PMID:23611581|PMID:23780642|PMID:24033266|PMID:24508627|PMID:24713661|PMID:24765495|PMID:24889030|PMID:25047749|PMID:25087612|PMID:25179242|PMID:25433810|PMID:25537548|PMID:25640679|PMID:25741868|PMID:26117549|PMID:2615645|PMID:26206375|PMID:27287393|PMID:28111830|PMID:28132756|PMID:28302489|PMID:28492532|PMID:29378745|PMID:30285816|PMID:30904546|PMID:31056765|PMID:31469252|PMID:31980526|PMID:4680976|PMID:7557970|PMID:7977368|PMID:8792870|PMID:9090528|PMID:9536098 12018981 ASS1 argininosuccinate synthase 1 gene DOID:9273 citrullinemia ISO RGD:736136 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinemia, mild | ClinVar Annotator: match by term: Citrullinuria PMID:10987146|PMID:11211875|PMID:11571557|PMID:11708871|PMID:11738042|PMID:11941481|PMID:12684898|PMID:12815590|PMID:14680976|PMID:15266621|PMID:15334737|PMID:15863597|PMID:16124451|PMID:16199547|PMID:16475226|PMID:17576681|PMID:18473344|PMID:18666241|PMID:18925679|PMID:19006241|PMID:19358837|PMID:1943692|PMID:21227727|PMID:21228398|PMID:21244552|PMID:21483992|PMID:22106832|PMID:2246255|PMID:22473243|PMID:22494545|PMID:22768672|PMID:23094117|PMID:23099195|PMID:23246278|PMID:23430935|PMID:2358466|PMID:23611581|PMID:23780642|PMID:24033266|PMID:24508627|PMID:24713661|PMID:24765495|PMID:24889030|PMID:25047749|PMID:25087612|PMID:25179242|PMID:25433810|PMID:25537548|PMID:25640679|PMID:25741868|PMID:26117549|PMID:2615645|PMID:26206375|PMID:27168972|PMID:27287393|PMID:28111830|PMID:28132756|PMID:28302489|PMID:28492532|PMID:29378745|PMID:30285816|PMID:30904546|PMID:31056765|PMID:31469252|PMID:31980526|PMID:32778825|PMID:33851512|PMID:4680976|PMID:7557970|PMID:7977368|PMID:8792870|PMID:9090528|PMID:9536098 12018981 ASS1 argininosuccinate synthase 1 gene DOID:9273 citrullinemia ISO RGD:736136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinemia, mild PMID:10987146|PMID:11211875|PMID:11571557|PMID:11708871|PMID:11738042|PMID:11941481|PMID:12684898|PMID:12815590|PMID:14680976|PMID:15266621|PMID:15334737|PMID:15863597|PMID:16124451|PMID:16199547|PMID:16475226|PMID:17576681|PMID:18473344|PMID:18666241|PMID:18925679|PMID:19006241|PMID:19358837|PMID:1943692|PMID:19684305|PMID:20005624|PMID:20818742|PMID:21227727|PMID:21228398|PMID:21244552|PMID:21483992|PMID:22106832|PMID:2246255|PMID:22473243|PMID:22494545|PMID:22768672|PMID:23094117|PMID:23099195|PMID:23246278|PMID:23430935|PMID:2358466|PMID:23611581|PMID:23780642|PMID:24033266|PMID:24508627|PMID:24713661|PMID:24765495|PMID:24889030|PMID:25047749|PMID:25087612|PMID:25179242|PMID:25433810|PMID:25537548|PMID:25640679|PMID:25741868|PMID:26117549|PMID:2615645|PMID:26206375|PMID:27168972|PMID:27287393|PMID:27629047|PMID:28111830|PMID:28132756|PMID:28302489|PMID:28492532|PMID:29378745|PMID:30285816|PMID:30612563|PMID:30904546|PMID:31056765|PMID:31208364|PMID:3146925|PMID:31469252|PMID:31737040|PMID:31980526|PMID:32778825|PMID:33851512|PMID:4680976|PMID:7557970|PMID:7977368|PMID:8792870|PMID:9090528|PMID:934749|PMID:9536098 12018981 ASS1 argininosuccinate synthase 1 gene DOID:9273 citrullinemia susceptibility ISO RGD:736136 D RGD:9068941 20200609 RGD PMID:7557970|REF_RGD_ID:1599301 12019004 CCAR1 cell division cycle and apoptosis regulator 1 gene DOID:630 genetic disease ISO RGD:1345566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019033 DHODH dihydroorotate dehydrogenase (quinone) gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:68497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12019033 DHODH dihydroorotate dehydrogenase (quinone) gene DOID:0080916 erythroleukemia ISO RGD:68497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 12019033 DHODH dihydroorotate dehydrogenase (quinone) gene DOID:0111259 postaxial acrofacial dysostosis ISO RGD:68497 D RGD:7240710 20180130 OMIM 12019033 DHODH dihydroorotate dehydrogenase (quinone) gene DOID:0111259 postaxial acrofacial dysostosis ISO RGD:68497 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Miller syndrome PMID:19915526|PMID:20220176|PMID:21346561|PMID:22692683|PMID:22967083|PMID:24033266|PMID:25741868|PMID:28492532 12019033 DHODH dihydroorotate dehydrogenase (quinone) gene DOID:10923 sickle cell anemia ISO RGD:68497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 12019033 DHODH dihydroorotate dehydrogenase (quinone) gene DOID:12241 beta thalassemia ISO RGD:68497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 12019033 DHODH dihydroorotate dehydrogenase (quinone) gene DOID:12971 hereditary spherocytosis ISO RGD:68497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 12019033 DHODH dihydroorotate dehydrogenase (quinone) gene DOID:630 genetic disease ISO RGD:68497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12019033 DHODH dihydroorotate dehydrogenase (quinone) gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:68352 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:6331524|REF_RGD_ID:5132618 12019033 DHODH dihydroorotate dehydrogenase (quinone) gene DOID:9002457 Experimental Arthritis ISO RGD:68352 D RGD:9068941 20200609 RGD PMID:15182735|REF_RGD_ID:2316231 12019033 DHODH dihydroorotate dehydrogenase (quinone) gene DOID:9002850 Immediate Hypersensitivity ISO RGD:68352 D RGD:9068941 20200609 RGD PMID:9918599|REF_RGD_ID:2316235 12019033 DHODH dihydroorotate dehydrogenase (quinone) gene DOID:9004283 Transplant Rejection treatment ISO RGD:68352 D RGD:9068941 20200609 RGD PMID:8443191|REF_RGD_ID:11040447 12019033 DHODH dihydroorotate dehydrogenase (quinone) gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:68352 D RGD:9068941 20200609 RGD PMID:1723607|REF_RGD_ID:11040445 12019033 DHODH dihydroorotate dehydrogenase (quinone) gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:68352 D RGD:9068941 20200609 RGD protein:decreased activity:mammary gland (rat) PMID:1476792|REF_RGD_ID:5132591 12019033 DHODH dihydroorotate dehydrogenase (quinone) gene DOID:9006647 Experimental Autoimmune Neuritis treatment ISO RGD:68352 D RGD:9068941 20200609 RGD PMID:11522581|REF_RGD_ID:11040446 12019055 SLC10A7 solute carrier family 10 member 7 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1351041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 12019055 SLC10A7 solute carrier family 10 member 7 gene DOID:13580 cholestasis ISO RGD:1351041 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 12019055 SLC10A7 solute carrier family 10 member 7 gene DOID:225 syndrome ISO RGD:1316406 D RGD:9068941 20220825 MouseDO 12019055 SLC10A7 solute carrier family 10 member 7 gene DOID:630 genetic disease ISO RGD:1351041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019055 SLC10A7 solute carrier family 10 member 7 gene DOID:9000420 Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis ISO RGD:1351041 D RGD:7240710 20190424 OMIM 12019055 SLC10A7 solute carrier family 10 member 7 gene DOID:9000420 Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis ISO RGD:1351041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis PMID:25741868|PMID:29878199|PMID:30082715 12019055 SLC10A7 solute carrier family 10 member 7 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351041 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 12019078 ASB9 ankyrin repeat and SOCS box containing 9 gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1344669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 12019078 ASB9 ankyrin repeat and SOCS box containing 9 gene DOID:12849 autistic disorder ISO RGD:1344669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12019078 ASB9 ankyrin repeat and SOCS box containing 9 gene DOID:13636 Fanconi anemia ISO RGD:1344669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 12019078 ASB9 ankyrin repeat and SOCS box containing 9 gene DOID:630 genetic disease ISO RGD:1344669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019078 ASB9 ankyrin repeat and SOCS box containing 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12019138 ASB11 ankyrin repeat and SOCS box containing 11 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12019138 ASB11 ankyrin repeat and SOCS box containing 11 gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1344351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 12019138 ASB11 ankyrin repeat and SOCS box containing 11 gene DOID:12849 autistic disorder ISO RGD:1344351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12019138 ASB11 ankyrin repeat and SOCS box containing 11 gene DOID:13636 Fanconi anemia ISO RGD:1344351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 12019138 ASB11 ankyrin repeat and SOCS box containing 11 gene DOID:630 genetic disease ISO RGD:1344351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019138 ASB11 ankyrin repeat and SOCS box containing 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12019151 MPND MPN domain containing gene DOID:0080600 COVID-19 ISO RGD:1605915 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12019151 MPND MPN domain containing gene DOID:13938 amenorrhea ISO RGD:1605915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12019151 MPND MPN domain containing gene DOID:630 genetic disease ISO RGD:1605915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019167 MFSD4B major facilitator superfamily domain containing 4B gene DOID:630 genetic disease ISO RGD:1321427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019175 CCRL2 C-C motif chemokine receptor like 2 gene DOID:0080600 COVID-19 ISO RGD:1323460 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12019175 CCRL2 C-C motif chemokine receptor like 2 gene DOID:37 skin disease ISO RGD:1323460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12019175 CCRL2 C-C motif chemokine receptor like 2 gene DOID:630 genetic disease ISO RGD:1323460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019175 CCRL2 C-C motif chemokine receptor like 2 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1323460 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12019175 CCRL2 C-C motif chemokine receptor like 2 gene DOID:9007964 Arsenic Poisoning ISO RGD:1323460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12019181 LYZ lysozyme gene DOID:0050636 familial visceral amyloidosis ISO RGD:735254 D RGD:7240710 20180130 OMIM 12019181 LYZ lysozyme gene DOID:0050636 familial visceral amyloidosis ISO RGD:735254 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial visceral amyloidosis PMID:10534505|PMID:11849445|PMID:12360495|PMID:12675840|PMID:15745733|PMID:16523055|PMID:1808634|PMID:21988333|PMID:24433109|PMID:25217048|PMID:25741868|PMID:28492532|PMID:8464497|PMID:8566845 12019181 LYZ lysozyme gene DOID:630 genetic disease ISO RGD:735254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019181 LYZ lysozyme gene DOID:9004492 Familial Amyloidosis ISO RGD:735254 D RGD:9068941 20200609 RGD PMID:12675840|PMID:8464497|REF_RGD_ID:1599840|REF_RGD_ID:1599842 12019189 DAB2 DAB adaptor protein 2 gene DOID:0050758 metabolic acidosis ISO RGD:621007 D RGD:9068941 20220421 RGD protein:decreased expression:brush border membrane PMID:22357915|REF_RGD_ID:7243154 12019189 DAB2 DAB adaptor protein 2 gene DOID:5844 myocardial infarction ISO RGD:621007 D RGD:9068941 20220421 RGD PMID:20666606|REF_RGD_ID:7243158 12019189 DAB2 DAB adaptor protein 2 gene DOID:5844 myocardial infarction ISO RGD:621007 D RGD:9068941 20220421 RGD protein:increased expression:cardiomyocyte PMID:21762377|REF_RGD_ID:7243156 12019189 DAB2 DAB adaptor protein 2 gene DOID:630 genetic disease ISO RGD:30302009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019189 DAB2 DAB adaptor protein 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:621007 D RGD:9068941 20220421 RGD protein:increased expression:spinal cord PMID:17317100|REF_RGD_ID:7243246 12019189 DAB2 DAB adaptor protein 2 gene DOID:9000998 Brain Injuries ISO RGD:621007 D RGD:9068941 20220421 RGD PMID:15774263|REF_RGD_ID:7243841 12019189 DAB2 DAB adaptor protein 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis disease_progression ISO RGD:621007 D RGD:9068941 20220421 RGD PMID:21890121|REF_RGD_ID:7243155 12019189 DAB2 DAB adaptor protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:30302009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12019211 IFRD2 interferon related developmental regulator 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1320999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12019211 IFRD2 interferon related developmental regulator 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1320999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12019211 IFRD2 interferon related developmental regulator 2 gene DOID:630 genetic disease ISO RGD:1320999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12019211 IFRD2 interferon related developmental regulator 2 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1320999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12019211 IFRD2 interferon related developmental regulator 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12019227 SATB1 SATB homeobox 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1313660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12019227 SATB1 SATB homeobox 1 gene DOID:0060417 3p deletion syndrome ISO RGD:1313660 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12019227 SATB1 SATB homeobox 1 gene DOID:12894 Sjogren's syndrome ISO RGD:1313661 D RGD:9068941 20220825 MouseDO OMIM:270150 12019227 SATB1 SATB homeobox 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1313660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12019227 SATB1 SATB homeobox 1 gene DOID:630 genetic disease ISO RGD:1313660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16371359|PMID:17652321|PMID:27462121|PMID:33513338 12019227 SATB1 SATB homeobox 1 gene DOID:9000289 DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES ISO RGD:1313660 D RGD:7240710 20210414 OMIM 12019227 SATB1 SATB homeobox 1 gene DOID:9000289 DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES ISO RGD:1313660 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental delay with dysmorphic facies and dental anomalies PMID:25741868|PMID:28492532|PMID:33513338|PMID:34782754 12019227 SATB1 SATB homeobox 1 gene DOID:9003563 KOHLSCHUTTER-TONZ SYNDROME-LIKE ISO RGD:1313660 D RGD:7240710 20210414 OMIM 12019227 SATB1 SATB homeobox 1 gene DOID:9003563 KOHLSCHUTTER-TONZ SYNDROME-LIKE ISO RGD:1313660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kohlschutter-Tonz syndrome-like PMID:15930900|PMID:16371359|PMID:17652321|PMID:25741868|PMID:27462121|PMID:28492532|PMID:33513338|PMID:34782754 12019227 SATB1 SATB homeobox 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12019227 SATB1 SATB homeobox 1 gene DOID:9006205 Animal Disease Models ISO RGD:1313660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12019227 SATB1 SATB homeobox 1 gene DOID:9006303 Familial Hyperaldosteronism, Type II ISO RGD:1313660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hyperaldosteronism type II PMID:29403011 12019268 TSPAN31 tetraspanin 31 gene DOID:2394 ovarian cancer ISO RGD:1320454 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:26467025|PMID:28492532 12019268 TSPAN31 tetraspanin 31 gene DOID:3369 Ewing sarcoma ISO RGD:1320454 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ewing sarcoma PMID:24755471|PMID:25318351|PMID:25741868|PMID:26252490|PMID:26467025|PMID:28166811|PMID:28492532|PMID:30093976|PMID:30851086 12019268 TSPAN31 tetraspanin 31 gene DOID:630 genetic disease ISO RGD:1320454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019268 TSPAN31 tetraspanin 31 gene DOID:6846 familial melanoma ISO RGD:1320454 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:34285288|PMID:9536098 12019268 TSPAN31 tetraspanin 31 gene DOID:6846 familial melanoma ISO RGD:1320454 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:34285288|PMID:9536098 12019268 TSPAN31 tetraspanin 31 gene DOID:6846 familial melanoma ISO RGD:1320454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:34285288|PMID:35264596|PMID:9536098 12019268 TSPAN31 tetraspanin 31 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29917049|PMID:30093976|PMID:31159747 12019268 TSPAN31 tetraspanin 31 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320454 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:34285288|PMID:9536098 12019268 TSPAN31 tetraspanin 31 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:34285288|PMID:35264596|PMID:9536098 12019283 ZBTB46 zinc finger and BTB domain containing 46 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12019283 ZBTB46 zinc finger and BTB domain containing 46 gene DOID:0060645 chronic recurrent multifocal osteomyelitis ISO RGD:1345627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic osteomyelitis 12019283 ZBTB46 zinc finger and BTB domain containing 46 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1345627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12019283 ZBTB46 zinc finger and BTB domain containing 46 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1345627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12019283 ZBTB46 zinc finger and BTB domain containing 46 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1345627 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12019283 ZBTB46 zinc finger and BTB domain containing 46 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12019283 ZBTB46 zinc finger and BTB domain containing 46 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1345627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12019283 ZBTB46 zinc finger and BTB domain containing 46 gene DOID:630 genetic disease ISO RGD:1345627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019283 ZBTB46 zinc finger and BTB domain containing 46 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1345627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12019297 MYL11 myosin light chain 11 gene DOID:0050646 distal arthrogryposis ISO RGD:1603646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis PMID:32707087 12019297 MYL11 myosin light chain 11 gene DOID:0112190 distal arthrogryposis type 1C ISO RGD:1603646 D RGD:7240710 20201223 OMIM 12019297 MYL11 myosin light chain 11 gene DOID:0112190 distal arthrogryposis type 1C ISO RGD:1603646 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1C PMID:25741868|PMID:32707087 12019297 MYL11 myosin light chain 11 gene DOID:630 genetic disease ISO RGD:1603646 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019307 SYNDIG1L synapse differentiation inducing 1 like gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1602232 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 12019307 SYNDIG1L synapse differentiation inducing 1 like gene DOID:1059 intellectual disability ISO RGD:1602232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12019307 SYNDIG1L synapse differentiation inducing 1 like gene DOID:630 genetic disease ISO RGD:1602232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019315 FUT6 fucosyltransferase 6 gene DOID:630 genetic disease ISO RGD:1350852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019315 FUT6 fucosyltransferase 6 gene DOID:9003153 FUCOSYLTRANSFERASE 6 DEFICIENCY ISO RGD:1350852 D RGD:7240710 20180130 OMIM 12019315 FUT6 fucosyltransferase 6 gene DOID:9003153 FUCOSYLTRANSFERASE 6 DEFICIENCY ISO RGD:1350852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fucosyltransferase 6 deficiency PMID:25741868|PMID:8175676 12019330 ATP5MGL ATP synthase membrane subunit g like gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1344612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 12019330 ATP5MGL ATP synthase membrane subunit g like gene DOID:1059 intellectual disability ISO RGD:1344612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12019330 ATP5MGL ATP synthase membrane subunit g like gene DOID:630 genetic disease ISO RGD:1344612 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019330 ATP5MGL ATP synthase membrane subunit g like gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1344612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 12019333 LOC100982890 holocytochrome c-type synthase gene DOID:0080600 COVID-19 ISO RGD:1352684 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12019333 LOC100982890 holocytochrome c-type synthase gene DOID:0111808 linear skin defects with multiple congenital anomalies 1 ISO RGD:1352684 D RGD:7240710 20180130 OMIM 12019333 LOC100982890 holocytochrome c-type synthase gene DOID:0111808 linear skin defects with multiple congenital anomalies 1 ISO RGD:1352684 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1 PMID:16059943|PMID:17033964|PMID:17893649|PMID:25741868 12019333 LOC100982890 holocytochrome c-type synthase gene DOID:1059 intellectual disability ISO RGD:1352684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25741868|PMID:28492532 12019333 LOC100982890 holocytochrome c-type synthase gene DOID:10629 microphthalmia ISO RGD:1352684 D RGD:9068941 20200609 RGD microphthalmia with linear skin defects, OMIM:309801, DNA:point mutations:exon:R197X, R217C PMID:17033964|REF_RGD_ID:1600417 12019333 LOC100982890 holocytochrome c-type synthase gene DOID:10629 microphthalmia ISO RGD:1558032 D RGD:9068941 20220825 MouseDO OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972 12019333 LOC100982890 holocytochrome c-type synthase gene DOID:12849 autistic disorder ISO RGD:1352684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12019333 LOC100982890 holocytochrome c-type synthase gene DOID:630 genetic disease ISO RGD:1352684 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 12019333 LOC100982890 holocytochrome c-type synthase gene DOID:9001946 Skin Abnormalities ISO RGD:1352684 D RGD:9068941 20200609 RGD microphthalmia with linear skin defects, OMIM:309801, DNA:point mutations:exon:R197X, R217C PMID:17033964|REF_RGD_ID:1600417 12019333 LOC100982890 holocytochrome c-type synthase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12019348 IL2 interleukin 2 gene DOID:0050127 sinusitis ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:11758471|REF_RGD_ID:8662964 12019348 IL2 interleukin 2 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23962110 12019348 IL2 interleukin 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:733315 D RGD:9068941 20220825 MouseDO 12019348 IL2 interleukin 2 gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:620047 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:17338814|REF_RGD_ID:8662972 12019348 IL2 interleukin 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:10389944|REF_RGD_ID:8662949 12019348 IL2 interleukin 2 gene DOID:0060224 atrial fibrillation ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:17923414|REF_RGD_ID:8662962 12019348 IL2 interleukin 2 gene DOID:0060500 drug allergy ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:1549655|REF_RGD_ID:8662975 12019348 IL2 interleukin 2 gene DOID:0080199 colorectal carcinoma treatment ISO RGD:620047 D RGD:9068941 20210611 RGD PMID:29229353|REF_RGD_ID:127284843 12019348 IL2 interleukin 2 gene DOID:0080599 Coronavirus infectious disease ISO RGD:733315 D RGD:9068941 20200618 RGD PMID:19906920|REF_RGD_ID:4891446 12019348 IL2 interleukin 2 gene DOID:0080600 COVID-19 ISO RGD:730858 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 12019348 IL2 interleukin 2 gene DOID:0080600 COVID-19 ISO RGD:730858 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:31986264 12019348 IL2 interleukin 2 gene DOID:0080600 COVID-19 severity ISO RGD:730858 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 12019348 IL2 interleukin 2 gene DOID:0081120 Graves ophthalmopathy ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:2786308|REF_RGD_ID:8662939 12019348 IL2 interleukin 2 gene DOID:0081267 graft-versus-host disease ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:21734238|PMID:8704686|REF_RGD_ID:5147911|REF_RGD_ID:8662974 12019348 IL2 interleukin 2 gene DOID:0111079 birdshot chorioretinopathy ISO RGD:730858 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor PMID:21570674|REF_RGD_ID:5147908 12019348 IL2 interleukin 2 gene DOID:10003 sensorineural hearing loss ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:9693304|REF_RGD_ID:8662926 12019348 IL2 interleukin 2 gene DOID:104 bacterial infectious disease ISO RGD:730858 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:decreased expression:blood PMID:21574159|REF_RGD_ID:5147907 12019348 IL2 interleukin 2 gene DOID:10652 Alzheimer's disease ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:8915041|REF_RGD_ID:10047080 12019348 IL2 interleukin 2 gene DOID:10652 Alzheimer's disease severity ISO RGD:730858 D RGD:9068941 20200609 RGD protein:increased secretion:mononuclear cell: PMID:8586980|REF_RGD_ID:10047081 12019348 IL2 interleukin 2 gene DOID:1067 open-angle glaucoma ISO RGD:730858 D RGD:9068941 20200609 RGD protein:decreased expression:aqueous humor PMID:21834929|REF_RGD_ID:5147910 12019348 IL2 interleukin 2 gene DOID:10754 otitis media disease_progression ISO RGD:733315 D RGD:9068941 20200609 RGD PMID:7769948|REF_RGD_ID:8662922 12019348 IL2 interleukin 2 gene DOID:10914 amnestic disorder ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8241462 12019348 IL2 interleukin 2 gene DOID:10964 cholesteatoma of middle ear ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:8737779|REF_RGD_ID:8662931 12019348 IL2 interleukin 2 gene DOID:11054 urinary bladder cancer ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1949363|PMID:3495671 12019348 IL2 interleukin 2 gene DOID:11054 urinary bladder cancer treatment ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:3262172|REF_RGD_ID:8663471 12019348 IL2 interleukin 2 gene DOID:11168 anogenital venereal wart ISO RGD:730858 D RGD:9068941 20201105 RGD protein:decreased expression:peripheral blood mononuclear cells (human) PMID:23754510|REF_RGD_ID:40400714 12019348 IL2 interleukin 2 gene DOID:1184 nephrotic syndrome ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19242727 12019348 IL2 interleukin 2 gene DOID:1205 allergic disease ISO RGD:733315 D RGD:9068941 20200609 RGD PMID:21509781|REF_RGD_ID:5147912 12019348 IL2 interleukin 2 gene DOID:12306 vitiligo ISO RGD:730858 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:22342018|REF_RGD_ID:8663475 12019348 IL2 interleukin 2 gene DOID:12361 Graves' disease ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:2279527|REF_RGD_ID:8662947 12019348 IL2 interleukin 2 gene DOID:1240 leukemia ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17500047 12019348 IL2 interleukin 2 gene DOID:12704 ataxia telangiectasia ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:6432389|REF_RGD_ID:8693328 12019348 IL2 interleukin 2 gene DOID:12849 autistic disorder ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16360218|PMID:18929414 12019348 IL2 interleukin 2 gene DOID:12894 Sjogren's syndrome ISO RGD:733315 D RGD:9068941 20220825 MouseDO OMIM:270150 12019348 IL2 interleukin 2 gene DOID:13141 uveitis ISO RGD:730858 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor,serum PMID:10865312|REF_RGD_ID:7365086 12019348 IL2 interleukin 2 gene DOID:13241 Behcet's disease ISO RGD:730858 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter (human) PMID:21640045|REF_RGD_ID:5147902 12019348 IL2 interleukin 2 gene DOID:13580 cholestasis treatment ISO RGD:733315 D RGD:9068941 20200609 RGD PMID:29698570|REF_RGD_ID:14928214 12019348 IL2 interleukin 2 gene DOID:14566 disease of cellular proliferation ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12579325 12019348 IL2 interleukin 2 gene DOID:1470 major depressive disorder ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12635532 12019348 IL2 interleukin 2 gene DOID:1474 aggressive periodontitis ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:21730256|REF_RGD_ID:5147873 12019348 IL2 interleukin 2 gene DOID:1577 limited scleroderma susceptibility ISO RGD:730858 D RGD:9068941 20200609 RGD DNA:polymorphism::-384T>G(human) PMID:17444587|REF_RGD_ID:4142872 12019348 IL2 interleukin 2 gene DOID:1679 cystitis ISO RGD:620047 D RGD:9068941 20200609 RGD PMID:20860016|REF_RGD_ID:5147913 12019348 IL2 interleukin 2 gene DOID:1749 squamous cell carcinoma treatment ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:11023201|REF_RGD_ID:8663457 12019348 IL2 interleukin 2 gene DOID:1793 pancreatic cancer treatment ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:9080118|REF_RGD_ID:8663440 12019348 IL2 interleukin 2 gene DOID:1883 hepatitis C ISO RGD:730858 D RGD:9068941 20201112 RGD protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:17553896|REF_RGD_ID:40400745 12019348 IL2 interleukin 2 gene DOID:1884 viral hepatitis susceptibility ISO RGD:730858 D RGD:9068941 20200609 RGD DNA:polymorphism::-330T>G(human) PMID:21162873|REF_RGD_ID:14747036 12019348 IL2 interleukin 2 gene DOID:1909 melanoma ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12374674|PMID:12439608|PMID:15577323|PMID:15917704|PMID:16131448|PMID:16248763|PMID:16260693|PMID:16432458|PMID:16809738|PMID:16939954|PMID:17023156|PMID:17105418|PMID:17576460|PMID:17709802|PMID:17761969|PMID:18176117|PMID:18281670|PMID:18298334|PMID:18332650|PMID:18999936|PMID:19243244|PMID:20423231 12019348 IL2 interleukin 2 gene DOID:1936 atherosclerosis ISO RGD:733315 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1 PMID:21606463|REF_RGD_ID:5147904 12019348 IL2 interleukin 2 gene DOID:2043 hepatitis B ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:25968473|REF_RGD_ID:14747044 12019348 IL2 interleukin 2 gene DOID:2048 autoimmune hepatitis ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 12019348 IL2 interleukin 2 gene DOID:2048 autoimmune hepatitis ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:29233784|REF_RGD_ID:14747042 12019348 IL2 interleukin 2 gene DOID:2048 autoimmune hepatitis disease_progression ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:29323192|REF_RGD_ID:14747037 12019348 IL2 interleukin 2 gene DOID:2055 post-traumatic stress disorder ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:21714072|REF_RGD_ID:5147887 12019348 IL2 interleukin 2 gene DOID:2355 anemia ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7678812 12019348 IL2 interleukin 2 gene DOID:2508 Takayasu's arteritis disease_progression ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:2574087|REF_RGD_ID:8693331 12019348 IL2 interleukin 2 gene DOID:2508 Takayasu's arteritis susceptibility ISO RGD:730858 D RGD:9068941 20200609 RGD DNA:polymorphism::-300G>T(human) PMID:17002904|REF_RGD_ID:8663467 12019348 IL2 interleukin 2 gene DOID:2841 asthma ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:20926789|REF_RGD_ID:4889118 12019348 IL2 interleukin 2 gene DOID:2841 asthma susceptibility ISO RGD:730858 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs2069762(human) PMID:16333313|REF_RGD_ID:8663473 12019348 IL2 interleukin 2 gene DOID:2921 glomerulonephritis ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10910440|PMID:9403216 12019348 IL2 interleukin 2 gene DOID:3042 allergic contact dermatitis ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11312644|PMID:22245253 12019348 IL2 interleukin 2 gene DOID:3068 glioblastoma ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7719933 12019348 IL2 interleukin 2 gene DOID:3070 high grade glioma treatment ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:12864971|REF_RGD_ID:8663439 12019348 IL2 interleukin 2 gene DOID:3082 interstitial lung disease ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:21257923|REF_RGD_ID:5144220 12019348 IL2 interleukin 2 gene DOID:3310 atopic dermatitis ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:1673687|REF_RGD_ID:8693325 12019348 IL2 interleukin 2 gene DOID:3310 atopic dermatitis ISO RGD:730858 D RGD:9068941 20200609 RGD associated with food hypersensitivity; PMID:7547077|REF_RGD_ID:8662961 12019348 IL2 interleukin 2 gene DOID:3310 atopic dermatitis ISO RGD:730858 D RGD:9068941 20200609 RGD protein:increased expression:CD8+ T cell: PMID:16672002|REF_RGD_ID:8549583 12019348 IL2 interleukin 2 gene DOID:3310 atopic dermatitis ISO RGD:733315 D RGD:9068941 20200609 RGD PMID:21982597|REF_RGD_ID:8663444 12019348 IL2 interleukin 2 gene DOID:3310 atopic dermatitis susceptibility ISO RGD:730858 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs2069762(human) PMID:16333313|REF_RGD_ID:8663473 12019348 IL2 interleukin 2 gene DOID:3454 brain infarction ISO RGD:620047 D RGD:9068941 20230216 RGD protein:increased expression:brain (rat) PMID:19895873|REF_RGD_ID:2325193 12019348 IL2 interleukin 2 gene DOID:418 systemic scleroderma ISO RGD:730858 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:2213757|REF_RGD_ID:8663482 12019348 IL2 interleukin 2 gene DOID:4450 renal cell carcinoma ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:21812652|REF_RGD_ID:5147871 12019348 IL2 interleukin 2 gene DOID:4481 allergic rhinitis ISO RGD:620047 D RGD:9068941 20200609 RGD PMID:12592663|REF_RGD_ID:8662963 12019348 IL2 interleukin 2 gene DOID:4483 rhinitis susceptibility ISO RGD:730858 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs2069762(human) PMID:16333313|REF_RGD_ID:8663473 12019348 IL2 interleukin 2 gene DOID:5082 liver cirrhosis treatment ISO RGD:733315 D RGD:9068941 20200609 RGD associated with sclerosing cholangitis PMID:29698570|REF_RGD_ID:14928214 12019348 IL2 interleukin 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 12019348 IL2 interleukin 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:2787951|PMID:3263896|REF_RGD_ID:8662923|REF_RGD_ID:8662971 12019348 IL2 interleukin 2 gene DOID:612 primary immunodeficiency disease treatment ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:3048654|REF_RGD_ID:8693330 12019348 IL2 interleukin 2 gene DOID:615 leukopenia ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7678812 12019348 IL2 interleukin 2 gene DOID:627 severe combined immunodeficiency ISO RGD:730858 D RGD:9068941 20200609 RGD mRNA:decreased_expression::no detectable IL2 mRNA PMID:2342538|REF_RGD_ID:1600060 12019348 IL2 interleukin 2 gene DOID:635 acquired immunodeficiency syndrome ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9861562 12019348 IL2 interleukin 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:730858 D RGD:9068941 20200609 RGD protein:increased expression:mononuclear cell PMID:21859687|REF_RGD_ID:5147870 12019348 IL2 interleukin 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:10933975|PMID:9449371|REF_RGD_ID:14747035|REF_RGD_ID:8693323 12019348 IL2 interleukin 2 gene DOID:7148 rheumatoid arthritis ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:6421522|REF_RGD_ID:8662948 12019348 IL2 interleukin 2 gene DOID:850 lung disease ISO RGD:730858 D RGD:9068941 20200806 RGD associated with HTLV-I Infections;protein:increased expression:bronchoalveolar lavage fluid: PMID:24292748|REF_RGD_ID:36947872 12019348 IL2 interleukin 2 gene DOID:8506 bullous pemphigoid ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:1973607|REF_RGD_ID:8663461 12019348 IL2 interleukin 2 gene DOID:8536 herpes zoster ISO RGD:730858 D RGD:9068941 20200609 RGD protein:increased expression:: PMID:21954956|REF_RGD_ID:8663478 12019348 IL2 interleukin 2 gene DOID:8893 psoriasis disease_progression ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:2448994|REF_RGD_ID:10047079 12019348 IL2 interleukin 2 gene DOID:8924 autoimmune thrombocytopenic purpura susceptibility ISO RGD:730858 D RGD:9068941 20200609 RGD DNA:polymorphism::-330T>G(human) PMID:20626741|REF_RGD_ID:11528541 12019348 IL2 interleukin 2 gene DOID:9000099 Experimental Colitis ISO RGD:620047 D RGD:9068941 20200609 RGD PMID:16630696|REF_RGD_ID:8662978 12019348 IL2 interleukin 2 gene DOID:9000641 Pain ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12421473 12019348 IL2 interleukin 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17105418 12019348 IL2 interleukin 2 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:730858 D RGD:9068941 20200609 RGD associated with melanoma PMID:8642346|REF_RGD_ID:14747043 12019348 IL2 interleukin 2 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:730858 D RGD:9068941 20200609 RGD associated with melanoma; PMID:8610104|REF_RGD_ID:8663438 12019348 IL2 interleukin 2 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:730858 D RGD:9068941 20200609 RGD associated with neuroblastoma. PMID:9362156|REF_RGD_ID:14865005 12019348 IL2 interleukin 2 gene DOID:9000972 Fever ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8635092 12019348 IL2 interleukin 2 gene DOID:9000998 Brain Injuries ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 12019348 IL2 interleukin 2 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:730858 D RGD:9068941 20200609 RGD associated with Macular Degeneration;protein:decreased expression:aqueous humor: PMID:19262441|REF_RGD_ID:10047086 12019348 IL2 interleukin 2 gene DOID:9001109 Anorexia ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8635092 12019348 IL2 interleukin 2 gene DOID:9001365 Amebic Liver Abscess treatment ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:10862314|REF_RGD_ID:14928216 12019348 IL2 interleukin 2 gene DOID:9001488 Human Influenza ISO RGD:730858 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21603856|REF_RGD_ID:5147905 12019348 IL2 interleukin 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:620047 D RGD:9068941 20220331 RGD PMID:30346985|REF_RGD_ID:151665755 12019348 IL2 interleukin 2 gene DOID:9001579 Neurogenic Inflammation ISO RGD:620047 D RGD:9068941 20200609 RGD protein:decreased expression:dorsal root ganglion PMID:16887276|REF_RGD_ID:8663437 12019348 IL2 interleukin 2 gene DOID:9002170 Experimental Neoplasms ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1949363|PMID:22306178|PMID:3495671 12019348 IL2 interleukin 2 gene DOID:9002211 Hyperalgesia ISO RGD:620047 D RGD:9068941 20200609 RGD PMID:12755376|REF_RGD_ID:8662973 12019348 IL2 interleukin 2 gene DOID:9002211 Hyperalgesia ISO RGD:620047 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy; mRNA,protein:increased expression:spinal cord: PMID:22189457|REF_RGD_ID:8662977 12019348 IL2 interleukin 2 gene DOID:9002211 Hyperalgesia treatment ISO RGD:620047 D RGD:9068941 20200609 RGD PMID:18423867|REF_RGD_ID:8662980 12019348 IL2 interleukin 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17105418|PMID:18298334|PMID:18625569|PMID:19409039 12019348 IL2 interleukin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17115417 12019348 IL2 interleukin 2 gene DOID:9002331 Knee Osteoarthritis severity ISO RGD:730858 D RGD:9068941 20200609 RGD protein:increased expression:synovial fluid: PMID:22035391|REF_RGD_ID:5687147 12019348 IL2 interleukin 2 gene DOID:9002362 Hyperkinesis ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8241462 12019348 IL2 interleukin 2 gene DOID:9002457 Experimental Arthritis ISO RGD:620047 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19169271|REF_RGD_ID:8662976 12019348 IL2 interleukin 2 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:620047 D RGD:9068941 20200609 RGD PMID:2492102|REF_RGD_ID:10047055 12019348 IL2 interleukin 2 gene DOID:9003000 Asthenia ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8635092 12019348 IL2 interleukin 2 gene DOID:9003036 Oral Lichen Planus ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:1666936|REF_RGD_ID:8693327 12019348 IL2 interleukin 2 gene DOID:9003278 Neoplasm, Residual ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14654953 12019348 IL2 interleukin 2 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:730858 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:17608155|REF_RGD_ID:8662959 12019348 IL2 interleukin 2 gene DOID:9003690 Carcinoma, Lewis Lung treatment ISO RGD:733315 D RGD:9068941 20200609 RGD PMID:9399664|REF_RGD_ID:8663451 12019348 IL2 interleukin 2 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:12673448|REF_RGD_ID:14807336 12019348 IL2 interleukin 2 gene DOID:9004118 Experimental Melanoma ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:11884028|REF_RGD_ID:8662950 12019348 IL2 interleukin 2 gene DOID:9004283 Transplant Rejection ISO RGD:733315 D RGD:9068941 20200609 RGD PMID:18089405|PMID:22564629|REF_RGD_ID:10047078|REF_RGD_ID:7364833 12019348 IL2 interleukin 2 gene DOID:9004283 Transplant Rejection treatment ISO RGD:620047 D RGD:9068941 20200609 RGD PMID:3291556|REF_RGD_ID:8662936 12019348 IL2 interleukin 2 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:730858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 12019348 IL2 interleukin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12019348 IL2 interleukin 2 gene DOID:9004610 Acute Lung Injury ISO RGD:620047 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:21767135|REF_RGD_ID:6480432 12019348 IL2 interleukin 2 gene DOID:9005172 Lung Neoplasms ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18298334|PMID:18625569|PMID:7614408 12019348 IL2 interleukin 2 gene DOID:9005181 Multi-Infarct Dementia severity ISO RGD:730858 D RGD:9068941 20200609 RGD protein:increased secretion:mononuclear cell: PMID:8586980|REF_RGD_ID:10047081 12019348 IL2 interleukin 2 gene DOID:9005236 Drug Eruptions ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31150805 12019348 IL2 interleukin 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620047 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:20213480|REF_RGD_ID:5147915 12019348 IL2 interleukin 2 gene DOID:9006024 Hypotension ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8635092 12019348 IL2 interleukin 2 gene DOID:9006618 Liver Metastasis ISO RGD:730858 D RGD:9068941 20200609 RGD associated with colon carcinoma PMID:9354462|REF_RGD_ID:14928215 12019348 IL2 interleukin 2 gene DOID:9006618 Liver Metastasis treatment ISO RGD:730858 D RGD:9068941 20200609 RGD associated with Colorectal Neoplasms, Carcinoma, Hepatocellular; PMID:11591892|REF_RGD_ID:8663446 12019348 IL2 interleukin 2 gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:7929845|REF_RGD_ID:8662951 12019348 IL2 interleukin 2 gene DOID:9006642 Experimental Autoimmune Uveoretinitis disease_progression ISO RGD:620047 D RGD:9068941 20200609 RGD mRNA:increased expression:uvea: PMID:7803357|REF_RGD_ID:8662946 12019348 IL2 interleukin 2 gene DOID:9006698 Vaginal Neoplasms ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15577323 12019348 IL2 interleukin 2 gene DOID:9007188 Liver Neoplasms ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18298334 12019348 IL2 interleukin 2 gene DOID:9007502 Brain Neoplasms ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6319491 12019348 IL2 interleukin 2 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:730858 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-385T>G(human) PMID:19105930|REF_RGD_ID:14747034 12019348 IL2 interleukin 2 gene DOID:9008763 Femoral Fractures ISO RGD:620047 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21442011|REF_RGD_ID:5131471 12019348 IL2 interleukin 2 gene DOID:9008865 Entamoebiasis ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16374615 12019348 IL2 interleukin 2 gene DOID:9008885 Staphylococcal Infections ISO RGD:733315 D RGD:9068941 20200609 RGD PMID:21603642|REF_RGD_ID:5147906 12019348 IL2 interleukin 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730858 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast neoplasm 12019348 IL2 interleukin 2 gene DOID:905 Zellweger syndrome ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:21888010|REF_RGD_ID:14747040 12019348 IL2 interleukin 2 gene DOID:9065 leishmaniasis ISO RGD:733315 D RGD:9068941 20200609 RGD PMID:6224858|REF_RGD_ID:8693326 12019348 IL2 interleukin 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:6421522|REF_RGD_ID:8662948 12019348 IL2 interleukin 2 gene DOID:9182 pemphigus ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:6432916|REF_RGD_ID:8693324 12019348 IL2 interleukin 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:733315 D RGD:9068941 20200609 RGD PMID:17670937|REF_RGD_ID:2313574 12019348 IL2 interleukin 2 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:3514237|REF_RGD_ID:10047089 12019348 IL2 interleukin 2 gene DOID:986 alopecia areata ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:3261574|REF_RGD_ID:8663449 12019348 IL2 interleukin 2 gene DOID:986 alopecia areata ISO RGD:733315 D RGD:9068941 20200609 RGD PMID:16297194|REF_RGD_ID:8663450 12019359 VPS13C vacuolar protein sorting 13 homolog C gene DOID:0060896 Parkinson's disease 23 ISO RGD:1348377 D RGD:7240710 20190315 OMIM 12019359 VPS13C vacuolar protein sorting 13 homolog C gene DOID:0060896 Parkinson's disease 23 ISO RGD:1348377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 23 PMID:25741868|PMID:26942284|PMID:28492532 12019359 VPS13C vacuolar protein sorting 13 homolog C gene DOID:10652 Alzheimer's disease ISO RGD:1348377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early onset PMID:25741868 12019359 VPS13C vacuolar protein sorting 13 homolog C gene DOID:14330 Parkinson's disease ISO RGD:1348377 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Parkinson disease PMID:26942284|PMID:27352967 12019359 VPS13C vacuolar protein sorting 13 homolog C gene DOID:2717 Bloom syndrome ISO RGD:1348377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12019359 VPS13C vacuolar protein sorting 13 homolog C gene DOID:630 genetic disease ISO RGD:1348377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12019359 VPS13C vacuolar protein sorting 13 homolog C gene DOID:9255 frontotemporal dementia ISO RGD:1348377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:25741868|PMID:28492532|PMID:29770609|PMID:31836585 12019359 VPS13C vacuolar protein sorting 13 homolog C gene DOID:9256 colorectal cancer ISO RGD:1348377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12019455 TIPIN TIMELESS interacting protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1606275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12019455 TIPIN TIMELESS interacting protein gene DOID:2717 Bloom syndrome ISO RGD:1606275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12019455 TIPIN TIMELESS interacting protein gene DOID:630 genetic disease ISO RGD:1606275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019455 TIPIN TIMELESS interacting protein gene DOID:9256 colorectal cancer ISO RGD:1606275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12019478 PLA2G12B phospholipase A2 group XIIB gene DOID:630 genetic disease ISO RGD:1351879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019488 DCAF7 DDB1 and CUL4 associated factor 7 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:1604053 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24056718 12019488 DCAF7 DDB1 and CUL4 associated factor 7 gene DOID:630 genetic disease ISO RGD:1604053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019488 DCAF7 DDB1 and CUL4 associated factor 7 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1604053 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 12019502 PROM2 prominin 2 gene DOID:630 genetic disease ISO RGD:1353767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019550 IMP4 IMP U3 small nucleolar ribonucleoprotein 4 gene DOID:630 genetic disease ISO RGD:1605599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019567 DBX1 developing brain homeobox 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1605302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12019567 DBX1 developing brain homeobox 1 gene DOID:1059 intellectual disability ISO RGD:1605302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12019567 DBX1 developing brain homeobox 1 gene DOID:630 genetic disease ISO RGD:1605302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019574 PPP1R3B protein phosphatase 1 regulatory subunit 3B gene DOID:630 genetic disease ISO RGD:1344962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019574 PPP1R3B protein phosphatase 1 regulatory subunit 3B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12019574 PPP1R3B protein phosphatase 1 regulatory subunit 3B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12019575 CADM2 cell adhesion molecule 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1313847 D RGD:9068941 20200609 RGD PMID:21996756|REF_RGD_ID:15092074 12019575 CADM2 cell adhesion molecule 2 gene DOID:3069 malignant astrocytoma severity ISO RGD:1313847 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:30816549|REF_RGD_ID:19165125 12019575 CADM2 cell adhesion molecule 2 gene DOID:630 genetic disease ISO RGD:1313847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019575 CADM2 cell adhesion molecule 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1313847 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:24240726|REF_RGD_ID:15092075 12019575 CADM2 cell adhesion molecule 2 gene DOID:768 retinoblastoma ISO RGD:1313847 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:retina PMID:30320366|REF_RGD_ID:15092072 12019575 CADM2 cell adhesion molecule 2 gene DOID:8893 psoriasis ISO RGD:1313847 D RGD:9068941 20200609 RGD PMID:21864505|REF_RGD_ID:15092073 12019575 CADM2 cell adhesion molecule 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1313847 D RGD:9068941 20200609 RGD DNA:SNP: :rs13078807 (human) PMID:28401323|REF_RGD_ID:15092076 12019575 CADM2 cell adhesion molecule 2 gene DOID:9970 obesity ISO RGD:1313847 D RGD:9068941 20200609 RGD DNA:SNP: :rs13078807 (human) PMID:31341224|REF_RGD_ID:15092077 12019601 PTGR3 prostaglandin reductase 3 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1320648 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12019601 PTGR3 prostaglandin reductase 3 gene DOID:630 genetic disease ISO RGD:1320648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019601 PTGR3 prostaglandin reductase 3 gene DOID:6420 pulmonary valve stenosis ISO RGD:1320648 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12019601 PTGR3 prostaglandin reductase 3 gene DOID:8445 intestinal volvulus ISO RGD:1320648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12019601 PTGR3 prostaglandin reductase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12019601 PTGR3 prostaglandin reductase 3 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1320648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12019610 SLAMF9 SLAM family member 9 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1314275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12019610 SLAMF9 SLAM family member 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1314275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12019610 SLAMF9 SLAM family member 9 gene DOID:630 genetic disease ISO RGD:1314275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019610 SLAMF9 SLAM family member 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12019610 SLAMF9 SLAM family member 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12019617 NAP1L2 nucleosome assembly protein 1 like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12019617 NAP1L2 nucleosome assembly protein 1 like 2 gene DOID:0080509 Cornelia de Lange syndrome 5 ISO RGD:1345486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 PMID:24403048 12019617 NAP1L2 nucleosome assembly protein 1 like 2 gene DOID:0080600 COVID-19 ISO RGD:1345486 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12019617 NAP1L2 nucleosome assembly protein 1 like 2 gene DOID:12849 autistic disorder ISO RGD:1345486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12019617 NAP1L2 nucleosome assembly protein 1 like 2 gene DOID:630 genetic disease ISO RGD:1345486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019635 EXTL2 exostosin like glycosyltransferase 2 gene DOID:1826 epilepsy ISO RGD:1317015 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12019635 EXTL2 exostosin like glycosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1317015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019635 EXTL2 exostosin like glycosyltransferase 2 gene DOID:9269 maple syrup urine disease ISO RGD:1317015 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 12019659 TSGA10 testis specific 10 gene DOID:0111924 spermatogenic failure 26 ISO RGD:731470 D RGD:7240710 20190315 OMIM 12019659 TSGA10 testis specific 10 gene DOID:0111924 spermatogenic failure 26 ISO RGD:731470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 26 PMID:28905369 12019659 TSGA10 testis specific 10 gene DOID:630 genetic disease ISO RGD:731470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019724 LYRM4 LYR motif containing 4 gene DOID:0110822 hereditary spastic paraplegia 77 ISO RGD:1345825 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 77, autosomal recessive PMID:25741868 12019724 LYRM4 LYR motif containing 4 gene DOID:0111476 combined oxidative phosphorylation deficiency 19 ISO RGD:1345825 D RGD:7240710 20180130 OMIM 12019724 LYRM4 LYR motif containing 4 gene DOID:0111476 combined oxidative phosphorylation deficiency 19 ISO RGD:1345825 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 19 PMID:23814038|PMID:25741868|PMID:28492532 12019724 LYRM4 LYR motif containing 4 gene DOID:0111477 combined oxidative phosphorylation deficiency 14 ISO RGD:1345825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 PMID:22833457|PMID:24161539|PMID:25741868|PMID:28492532|PMID:32007496 12019724 LYRM4 LYR motif containing 4 gene DOID:630 genetic disease ISO RGD:1345825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019743 MRPS21 mitochondrial ribosomal protein S21 gene DOID:0111940 immunodeficiency 42 ISO RGD:1316574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12019743 MRPS21 mitochondrial ribosomal protein S21 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1316574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12019743 MRPS21 mitochondrial ribosomal protein S21 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1316574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12019743 MRPS21 mitochondrial ribosomal protein S21 gene DOID:1540 parathyroid carcinoma ISO RGD:1316574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12019743 MRPS21 mitochondrial ribosomal protein S21 gene DOID:5812 MHC class II deficiency ISO RGD:1316574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12019743 MRPS21 mitochondrial ribosomal protein S21 gene DOID:630 genetic disease ISO RGD:1316574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019743 MRPS21 mitochondrial ribosomal protein S21 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12019750 DCLRE1C DNA cross-link repair 1C gene DOID:0060010 Omenn syndrome ISO RGD:1348428 D RGD:7240710 20180130 OMIM 12019750 DCLRE1C DNA cross-link repair 1C gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1348428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12019750 DCLRE1C DNA cross-link repair 1C gene DOID:0080915 histiocytic sarcoma ISO RGD:1348428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Histiocytic medullary reticulosis PMID:11336668|PMID:15071507|PMID:15731174|PMID:17576681|PMID:18223550|PMID:19953608|PMID:21664875|PMID:24033266|PMID:24144642|PMID:25741868|PMID:25917813|PMID:26122175|PMID:26123418|PMID:26822949|PMID:28492532|PMID:34426522|PMID:9536098 12019750 DCLRE1C DNA cross-link repair 1C gene DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation ISO RGD:1348428 D RGD:7240710 20180130 OMIM 12019750 DCLRE1C DNA cross-link repair 1C gene DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation ISO RGD:1348428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, athabascan-type | ClinVar Annotator: match by term: Severe combined immunodeficiency, partial PMID:11336668|PMID:12055248|PMID:12569164|PMID:12592555|PMID:14744996|PMID:15071507|PMID:15242402|PMID:15731174|PMID:15770702|PMID:16199547|PMID:17169382|PMID:17576681|PMID:18034425|PMID:18223550|PMID:19763152|PMID:19912631|PMID:19953608|PMID:19967552|PMID:20307669|PMID:20674517|PMID:21147755|PMID:21390052|PMID:21664875|PMID:22406018|PMID:22527898|PMID:23701501|PMID:24033266|PMID:24144642|PMID:24230999|PMID:25640679|PMID:25741868|PMID:25762520|PMID:25917813|PMID:25981738|PMID:26122175|PMID:26123418|PMID:26476407|PMID:26822949|PMID:27611239|PMID:28492532|PMID:28747913|PMID:29167666|PMID:32888943|PMID:34220820|PMID:34426522|PMID:9536098 12019750 DCLRE1C DNA cross-link repair 1C gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:14033838 D RGD:9068941 20221006 OMIA Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation PMID:17998435|PMID:22903400|PMID:23514746|PMID:25454085|PMID:26320255|PMID:27269786|PMID:27988511|PMID:28747915|PMID:29152615|PMID:30560086|PMID:30723704|PMID:30843296|PMID:32117254|PMID:32296428|PMID:34004455 12019750 DCLRE1C DNA cross-link repair 1C gene DOID:12177 common variable immunodeficiency ISO RGD:1348428 D RGD:9068941 20200609 RGD DNA:missense mutation, frameshift mutation: :p.T65I (c.194C>T), c.1669_1670insA (human) PMID:26476407|REF_RGD_ID:11251730 12019750 DCLRE1C DNA cross-link repair 1C gene DOID:627 severe combined immunodeficiency ISO RGD:1348428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:20674517|PMID:22527898|PMID:24033266|PMID:25741868|PMID:25917813|PMID:28492532|PMID:29167666 12019750 DCLRE1C DNA cross-link repair 1C gene DOID:627 severe combined immunodeficiency susceptibility ISO RGD:1348428 D RGD:9068941 20200609 RGD DNA:deletion:exon PMID:11336668|REF_RGD_ID:1601049 12019750 DCLRE1C DNA cross-link repair 1C gene DOID:630 genetic disease ISO RGD:1348428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12019764 RNF217 ring finger protein 217 gene DOID:2377 multiple sclerosis ISO RGD:1315678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to 12019764 RNF217 ring finger protein 217 gene DOID:630 genetic disease ISO RGD:1315678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019774 NPBWR2 neuropeptides B and W receptor 2 gene DOID:630 genetic disease ISO RGD:1349448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019781 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733190 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12019781 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:10140 dry eye syndrome ISO RGD:733191 D RGD:9068941 20200609 RGD protein:increased expression:corneal epithelium (mouse) PMID:22355243|REF_RGD_ID:6218964 12019781 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:11394 adult respiratory distress syndrome ISO RGD:628878 D RGD:9068941 20200609 RGD PMID:12235111|REF_RGD_ID:5688755 12019781 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:733190 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12868502 12019781 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:12140 Chagas disease ISO RGD:733190 D RGD:9068941 20200609 RGD PMID:21801456|REF_RGD_ID:6218957 12019781 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:1289 neurodegenerative disease ISO RGD:733191 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus (mouse) PMID:18601936|REF_RGD_ID:6218995 12019781 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:14330 Parkinson's disease ISO RGD:628878 D RGD:9068941 20200609 RGD protein:decreased expression:striatum (rat) PMID:22186119|REF_RGD_ID:5686884 12019781 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:733190 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19350847|REF_RGD_ID:5688779 12019781 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:733190 D RGD:9068941 20200609 RGD protein:increased expression:bronchial mucosa (human) PMID:22140545|REF_RGD_ID:5688781 12019781 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:3525 middle cerebral artery infarction ISO RGD:628878 D RGD:9068941 20200609 RGD rat gene in mouse model PMID:17473852|REF_RGD_ID:5688754 12019781 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:3525 middle cerebral artery infarction ISO RGD:733191 D RGD:9068941 20200609 RGD PMID:21709150|REF_RGD_ID:6218961 12019781 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:630 genetic disease ISO RGD:733190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019781 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:7148 rheumatoid arthritis ISO RGD:733190 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood lymphocyte (human) PMID:22047640|REF_RGD_ID:5688784 12019781 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:8577 ulcerative colitis ISO RGD:733190 D RGD:9068941 20200609 RGD protein:increased expression:colon mucosa, epithelium (human) PMID:22297444|REF_RGD_ID:5688753 12019781 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:9000998 Brain Injuries ISO RGD:628878 D RGD:9068941 20200609 RGD protein:increased expression:cerebral white matter (rat) PMID:22067617|REF_RGD_ID:5688785 12019781 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:9001553 Spinal Cord Compression ISO RGD:733191 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (mouse) PMID:21787762|REF_RGD_ID:6218959 12019781 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12019781 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:9004649 Heat Stroke ISO RGD:628878 D RGD:9068941 20200609 RGD PMID:22245947|REF_RGD_ID:5686871 12019781 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733190 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12019781 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:916 liver benign neoplasm ISO RGD:628878 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:22213170|REF_RGD_ID:5686872 12019781 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733190 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:22349026|REF_RGD_ID:6218966 12019804 SF3B4 splicing factor 3b subunit 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1320131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12019804 SF3B4 splicing factor 3b subunit 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1320131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12019804 SF3B4 splicing factor 3b subunit 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1320131 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12019804 SF3B4 splicing factor 3b subunit 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1320131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12019804 SF3B4 splicing factor 3b subunit 4 gene DOID:1793 pancreatic cancer ISO RGD:1320131 D RGD:9068941 20230128 RGD mRNA, protein:decreased expression:pancreas (human) PMID:28351319|REF_RGD_ID:155804299 12019804 SF3B4 splicing factor 3b subunit 4 gene DOID:4362 cervical cancer ISO RGD:1320131 D RGD:9068941 20230128 RGD human cells in mouse model PMID:35853859|REF_RGD_ID:155882439 12019804 SF3B4 splicing factor 3b subunit 4 gene DOID:4362 cervical cancer severity ISO RGD:1320131 D RGD:9068941 20230128 RGD mRNA, protein:increased expression:cervix (human) PMID:35853859|REF_RGD_ID:155882439 12019804 SF3B4 splicing factor 3b subunit 4 gene DOID:5768 Nager acrofacial dysostosis ISO RGD:1320131 D RGD:7240710 20180130 OMIM 12019804 SF3B4 splicing factor 3b subunit 4 gene DOID:5768 Nager acrofacial dysostosis ISO RGD:1320131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nager syndrome PMID:22541558|PMID:23568615|PMID:24003905|PMID:25741868|PMID:28492532 12019804 SF3B4 splicing factor 3b subunit 4 gene DOID:5812 MHC class II deficiency ISO RGD:1320131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12019804 SF3B4 splicing factor 3b subunit 4 gene DOID:630 genetic disease ISO RGD:1320131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22541558|PMID:23568615|PMID:24003905|PMID:25741868|PMID:26228803|PMID:28492532 12019804 SF3B4 splicing factor 3b subunit 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1309667 D RGD:9068941 20230105 RGD mRNA, protein:increased expression:liver (rat) PMID:29059470|REF_RGD_ID:155791679 12019804 SF3B4 splicing factor 3b subunit 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1320131 D RGD:9068941 20230105 RGD mRNA, protein:increased expression:liver (human) PMID:29059470|REF_RGD_ID:155791679 12019804 SF3B4 splicing factor 3b subunit 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1320131 D RGD:9068941 20230128 RGD human cells in mouse model PMID:30391496|REF_RGD_ID:155804298 12019804 SF3B4 splicing factor 3b subunit 4 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1320131 D RGD:9068941 20230128 RGD mRNA, protein:increased expression:liver(human) PMID:30391496|REF_RGD_ID:155804298 12019804 SF3B4 splicing factor 3b subunit 4 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1320132 D RGD:9068941 20230105 RGD PMID:29059470|REF_RGD_ID:155791679 12019804 SF3B4 splicing factor 3b subunit 4 gene DOID:9004538 Hearing Loss ISO RGD:1320131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary hearing loss and deafness PMID:25741868 12019804 SF3B4 splicing factor 3b subunit 4 gene DOID:9005616 Micrognathism ISO RGD:1320131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:25741868 12019804 SF3B4 splicing factor 3b subunit 4 gene DOID:9009121 lung metastasis ISO RGD:1320131 D RGD:9068941 20230128 RGD human cells in mouse model PMID:30391496|REF_RGD_ID:155804298 12019804 SF3B4 splicing factor 3b subunit 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12019815 PSAT1 phosphoserine aminotransferase 1 gene DOID:0050723 PSAT deficiency ISO RGD:1607031 D RGD:7240710 20180130 OMIM 12019815 PSAT1 phosphoserine aminotransferase 1 gene DOID:0050723 PSAT deficiency ISO RGD:1607031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PSAT deficiency PMID:17436247|PMID:17576681|PMID:25741868|PMID:28492532|PMID:32077105|PMID:34089226|PMID:9536098 12019815 PSAT1 phosphoserine aminotransferase 1 gene DOID:0080075 Neu-Laxova syndrome 2 ISO RGD:1607031 D RGD:7240710 20180130 OMIM 12019815 PSAT1 phosphoserine aminotransferase 1 gene DOID:0080075 Neu-Laxova syndrome 2 ISO RGD:1607031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neu-Laxova syndrome 2 PMID:16199547|PMID:17436247|PMID:17576681|PMID:25152457|PMID:25741868|PMID:26960553|PMID:28492532|PMID:30293248|PMID:31903955|PMID:32077105|PMID:32579715|PMID:34089226|PMID:9536098 12019815 PSAT1 phosphoserine aminotransferase 1 gene DOID:0080076 Neu-Laxova syndrome 1 ISO RGD:1607031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12019815 PSAT1 phosphoserine aminotransferase 1 gene DOID:10907 microcephaly ISO RGD:1607031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:32077105|PMID:34089226 12019815 PSAT1 phosphoserine aminotransferase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1607031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26482881 12019815 PSAT1 phosphoserine aminotransferase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1607031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12019815 PSAT1 phosphoserine aminotransferase 1 gene DOID:630 genetic disease ISO RGD:1607031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019815 PSAT1 phosphoserine aminotransferase 1 gene DOID:9002189 High Myopia ISO RGD:1607031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:28492532|PMID:32077105 12019815 PSAT1 phosphoserine aminotransferase 1 gene DOID:9006205 Animal Disease Models ISO RGD:1607031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12019829 ZNF80 zinc finger protein 80 gene DOID:630 genetic disease ISO RGD:1350909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019837 TM7SF3 transmembrane 7 superfamily member 3 gene DOID:630 genetic disease ISO RGD:1315548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019857 TIPARP TCDD inducible poly(ADP-ribose) polymerase gene DOID:630 genetic disease ISO RGD:1314636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019857 TIPARP TCDD inducible poly(ADP-ribose) polymerase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1314636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20852632 12019873 KANSL1L KAT8 regulatory NSL complex subunit 1 like gene DOID:14557 primary pulmonary hypertension ISO RGD:1606446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12019873 KANSL1L KAT8 regulatory NSL complex subunit 1 like gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1606446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12019873 KANSL1L KAT8 regulatory NSL complex subunit 1 like gene DOID:630 genetic disease ISO RGD:1606446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019873 KANSL1L KAT8 regulatory NSL complex subunit 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12019897 RBM26 RNA binding motif protein 26 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1317989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12019897 RBM26 RNA binding motif protein 26 gene DOID:10327 anthracosis ISO RGD:1317989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394417 12019897 RBM26 RNA binding motif protein 26 gene DOID:630 genetic disease ISO RGD:1317989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:0050852 limb ischemia treatment ISO RGD:620713 D RGD:9068941 20200609 RGD PMID:25388665|REF_RGD_ID:11568031 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:0050902 medulloblastoma ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:10766980|PMID:23819449|PMID:25705862|PMID:25741868|PMID:26619011|PMID:26822237|PMID:26942290|PMID:27626068|PMID:33448156 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:0060321 umbilical hernia ISO RGD:732291 D RGD:9068941 20200609 RGD PMID:21238647|REF_RGD_ID:11567270 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:0060597 atypical chronic myeloid leukemia ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:15050920|REF_RGD_ID:11352668 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:0070004 myeloid neoplasm ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21936542|PMID:22875613 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:0070004 myeloid neoplasm ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:12969958|REF_RGD_ID:11352667 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:0070004 myeloid neoplasm treatment ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:15448205|REF_RGD_ID:11352309 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:732291 D RGD:9068941 20200609 RGD PMID:32195457|REF_RGD_ID:25330354 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:0081284 rosette-forming glioneuronal tumor ISO RGD:732290 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor PMID:10766980|PMID:23819449|PMID:25741868|PMID:26619011|PMID:26822237|PMID:26942290|PMID:27626068 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:19506298|REF_RGD_ID:11352666 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:732290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:12627230|PMID:17200176|PMID:25636053|PMID:25741868|PMID:28492532|PMID:32853167|PMID:33548149 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:732290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:12627230|PMID:16882753|PMID:17200176|PMID:25636053|PMID:25741868|PMID:28492532|PMID:32853167|PMID:33548149 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:732290 D RGD:7240710 20180130 OMIM 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:732290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:10629055|PMID:10690855|PMID:10861678|PMID:10942429|PMID:11173846|PMID:12627230|PMID:14513299|PMID:1456217|PMID:14564217|PMID:14613973|PMID:15365636|PMID:15605412|PMID:15625620|PMID:15793702|PMID:16199547|PMID:16418210|PMID:16470795|PMID:16606836|PMID:16757108|PMID:16764984|PMID:16882753|PMID:16957473|PMID:17154279|PMID:17200176|PMID:17235395|PMID:17360555|PMID:17530415|PMID:17576681|PMID:17963255|PMID:18034870|PMID:18160472|PMID:18596921|PMID:18985070|PMID:19489874|PMID:19707180|PMID:19820032|PMID:20696889|PMID:21209029|PMID:21247312|PMID:21700882|PMID:22035731|PMID:22249004|PMID:22319038|PMID:22378383|PMID:23329143|PMID:23348397|PMID:23533228|PMID:23643382|PMID:23657145|PMID:23812909|PMID:24031091|PMID:24127277|PMID:24204987|PMID:24497711|PMID:24759409|PMID:25064402|PMID:25077900|PMID:25251565|PMID:25383892|PMID:25394172|PMID:25425165|PMID:25501157|PMID:25636053|PMID:25741868|PMID:25759380|PMID:26467025|PMID:26708526|PMID:26931467|PMID:26942290|PMID:27170295|PMID:27246988|PMID:27363716|PMID:27502037|PMID:27596331|PMID:27884173|PMID:27884859|PMID:28008864|PMID:28492532|PMID:28754744|PMID:28833369|PMID:28915117|PMID:29168297|PMID:31200363|PMID:31475041|PMID:31605817|PMID:31748124|PMID:31837199|PMID:32853167|PMID:33337535|PMID:33442024|PMID:33448156|PMID:33532864|PMID:33548149|PMID:35738466|PMID:6881209|PMID:7795583|PMID:7874169|PMID:8948562|PMID:9536098 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:732290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:0111337 Jackson-Weiss syndrome ISO RGD:732290 D RGD:7240710 20180130 OMIM 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:0111337 Jackson-Weiss syndrome ISO RGD:732290 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome PMID:10861678|PMID:10942429|PMID:1456217|PMID:14564217|PMID:14613973|PMID:16957473|PMID:18034870|PMID:23812909|PMID:24127277|PMID:24497711|PMID:25251565|PMID:25741868|PMID:26942290|PMID:28492532|PMID:31837199|PMID:7795583|PMID:7874169 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:0111532 osteoglophonic dysplasia ISO RGD:732290 D RGD:7240710 20180130 OMIM 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:0111532 osteoglophonic dysplasia ISO RGD:732290 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fairbank-Keats syndrome | ClinVar Annotator: match by term: Osteoglophonic dysplasia PMID:10629055|PMID:12627230|PMID:12952917|PMID:15365636|PMID:15605412|PMID:15625620|PMID:16470795|PMID:16764984|PMID:17154279|PMID:17360555|PMID:17576681|PMID:17963255|PMID:18160472|PMID:18985070|PMID:19707180|PMID:20696889|PMID:22378383|PMID:23329143|PMID:23348397|PMID:23657145|PMID:24031091|PMID:25064402|PMID:25383892|PMID:25425165|PMID:25741868|PMID:25759380|PMID:26467025|PMID:26708526|PMID:26931467|PMID:27884173|PMID:28492532|PMID:35738466|PMID:9536098 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:0111586 Martsolf syndrome 1 ISO RGD:732290 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:25741868 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:24027026|REF_RGD_ID:13504747 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:10652 Alzheimer's disease ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:9748519|REF_RGD_ID:10402073 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:10754 otitis media ISO RGD:732291 D RGD:9068941 20220825 MouseDO OMIM:166760 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:11446 sciatic neuropathy ISO RGD:620713 D RGD:9068941 20200609 RGD mRNA:increased expression:neuron: PMID:8971765|REF_RGD_ID:10402092 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:11832 visual epilepsy ISO RGD:620713 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex,hippocampus,neuron, astrocyrte: PMID:8072686|REF_RGD_ID:10402045 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:12689 acoustic neuroma disease_progression ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:15354013|REF_RGD_ID:11567268 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:12960 acrocephalosyndactylia ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:7874169|REF_RGD_ID:11567243 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:12960 acrocephalosyndactylia ISO RGD:732290 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.P252R (human) PMID:25251565|REF_RGD_ID:11567271 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:13938 amenorrhea ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:14566 disease of cellular proliferation ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:25157968 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:14705 Pfeiffer syndrome ISO RGD:732290 D RGD:7240710 20180130 OMIM 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:14705 Pfeiffer syndrome ISO RGD:732290 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome PMID:10861678|PMID:10942429|PMID:11173846|PMID:14513299|PMID:1456217|PMID:14564217|PMID:14613973|PMID:15605412|PMID:15793702|PMID:16764984|PMID:16957473|PMID:18034870|PMID:23657145|PMID:23812909|PMID:24127277|PMID:24497711|PMID:25064402|PMID:25251565|PMID:25741868|PMID:26931467|PMID:26942290|PMID:28492532|PMID:31837199|PMID:7795583|PMID:7874169 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:1596 depressive disorder ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16861106 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:1749 squamous cell carcinoma ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22286583|PMID:27794399 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:1921 Klinefelter syndrome ISO RGD:732290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:12627230|PMID:17200176|PMID:25636053|PMID:25741868|PMID:28492532|PMID:32853167|PMID:33548149 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:1924 hypogonadism ISO RGD:732290 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypergonadotropic hypogonadism PMID:25741868 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:224 transient cerebral ischemia ISO RGD:620713 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex: PMID:8858623|REF_RGD_ID:10402044 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:2340 craniosynostosis ISO RGD:732290 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis, nonspecific PMID:15605412|PMID:16764984|PMID:23657145|PMID:25064402|PMID:25741868|PMID:26931467|PMID:28492532 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:732291 D RGD:9068941 20200609 RGD PMID:18068632|PMID:23576558|REF_RGD_ID:13504748|REF_RGD_ID:2298702 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:2671 transitional cell carcinoma ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:25705862|PMID:26619011|PMID:26942290|PMID:33448156 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:3068 glioblastoma ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:25705862|PMID:26619011|PMID:26942290|PMID:33448156 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:3069 malignant astrocytoma ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23817572 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:3070 high grade glioma ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma PMID:10766980|PMID:23819449|PMID:25705862|PMID:25741868|PMID:26619011|PMID:26822237|PMID:26942290|PMID:27626068|PMID:33448156 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:3213 demyelinating disease ISO RGD:732291 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:11020217|REF_RGD_ID:8655565 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:3614 Kallmann syndrome ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anosmic hypogonadism | ClinVar Annotator: match by term: Hypogonadism with anosmia PMID:25741868 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:10766980|PMID:23819449|PMID:25741868|PMID:26619011|PMID:26822237|PMID:26942290|PMID:27626068 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22286583|PMID:27794399 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:23806793|REF_RGD_ID:25330355 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:403 mouth disease treatment ISO RGD:620713 D RGD:9068941 20200609 RGD PMID:14699553|REF_RGD_ID:10402103 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:4079 heart valve disease ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30008375 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:25900027|REF_RGD_ID:11352663 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:4621 holoprosencephaly ISO RGD:732290 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Lobar holoprosencephaly | ClinVar Annotator: match by term: Microform holoprosencephaly | ClinVar Annotator: match by term: Semilobar holoprosencephaly PMID:17154279|PMID:17530415|PMID:18034870|PMID:23812909|PMID:25741868|PMID:26931467|PMID:26942290|PMID:27363716 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:4783 mesangial proliferative glomerulonephritis ISO RGD:620713 D RGD:9068941 20200609 RGD mRNA:increased expression:mesangial cell PMID:10592054|REF_RGD_ID:10402100 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:4845 pilomyxoid astrocytoma ISO RGD:732290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pilomyxoid astrocytoma PMID:25705862|PMID:25741868|PMID:26619011|PMID:26942290|PMID:28492532|PMID:33448156 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:5015 fibrolamellar carcinoma ISO RGD:732290 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:24925055|REF_RGD_ID:11055933 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:5223 infertility ISO RGD:732290 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Infertility PMID:25741868 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:5327 retinal detachment ISO RGD:620713 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:layer of retina: PMID:10670490|REF_RGD_ID:10402077 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:5409 lung small cell carcinoma ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941188 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:5419 schizophrenia ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16861106 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:5844 myocardial infarction ISO RGD:732291 D RGD:9068941 20200609 RGD PMID:17439742|REF_RGD_ID:10402087 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:607 paraplegia ISO RGD:732290 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:630 genetic disease ISO RGD:732290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16882753|PMID:28492532 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:6432 pulmonary hypertension ISO RGD:620713 D RGD:9068941 20200609 RGD PMID:19197140|REF_RGD_ID:2315911 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:674 cleft palate ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:25705862|PMID:26619011|PMID:26942290|PMID:33448156 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:21573021|REF_RGD_ID:25440476 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:769 neuroblastoma ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:10766980|PMID:23819449|PMID:25741868|PMID:26619011|PMID:26822237|PMID:26942290|PMID:27626068 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:8398 osteoarthritis ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:22393163|REF_RGD_ID:10402075 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:732291 D RGD:9068941 20200609 RGD PMID:18068632|REF_RGD_ID:2298702 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:8692 myeloid leukemia ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:19506298|REF_RGD_ID:11352666 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:8725 vascular dementia treatment ISO RGD:620713 D RGD:9068941 20200609 RGD PMID:22500404|REF_RGD_ID:10402076 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9000067 Congenital Foot Deformities ISO RGD:732290 D RGD:9068941 20200609 RGD associated with Kallmann Syndrome;DNA:missense mutations, nonsense mutation:exon:multiple PMID:25394172|REF_RGD_ID:11098154 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9000290 Stargardt Disease 3 ISO RGD:732291 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:optic cup: PMID:22199241|REF_RGD_ID:10402074 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9000955 Acute Otitis Media ISO RGD:732291 D RGD:9068941 20210611 RGD mRNA:decreased expression:middle ear (mouse) PMID:21889218|REF_RGD_ID:127284853 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732291 D RGD:9068941 20200609 RGD associated with prostate adenocarcinoma PMID:23576558|REF_RGD_ID:13504748 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9001036 Penetrating Head Injuries ISO RGD:620713 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:astrocyte,macrophage,neutrophil: PMID:11168551|REF_RGD_ID:10402049 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9001239 Delayed Puberty ISO RGD:732290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Delayed puberty PMID:12627230|PMID:16606836|PMID:17200176|PMID:25636053|PMID:25741868|PMID:28492532|PMID:32853167|PMID:33548149 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:620713 D RGD:9068941 20200609 RGD PMID:21543745|REF_RGD_ID:25440477 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9001871 Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant ISO RGD:732290 D RGD:9068941 20200609 RGD DNA:frameshift mutation, missense mutations: :multiple PMID:16882753|REF_RGD_ID:11567239 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9001871 Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant ISO RGD:732290 D RGD:9068941 20200609 RGD DNA:missense mutation, nonsense mutation:exon:p.S107X (320C>A), p.G687R (2059G>A) (human) PMID:15845591|REF_RGD_ID:11567240 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9001871 Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant ISO RGD:732290 D RGD:9068941 20200609 RGD DNA:missense mutations, nonsense mutations:exon:multiple PMID:16764984|REF_RGD_ID:11567241 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:620713 D RGD:9068941 20200609 RGD PMID:9183688|REF_RGD_ID:8655640 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9002457 Experimental Arthritis ISO RGD:732291 D RGD:9068941 20200609 RGD PMID:22833219|REF_RGD_ID:10402072 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9002514 Neointima ISO RGD:620713 D RGD:9068941 20200609 RGD PMID:15072997|REF_RGD_ID:10402089 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features PMID:25705862|PMID:26619011|PMID:26942290|PMID:33448156 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9004210 Tympanic Membrane Perforation ISO RGD:620713 D RGD:9068941 20200609 RGD PMID:21590482|REF_RGD_ID:10402099 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9004332 Osteoarthritis, Experimental ISO RGD:732291 D RGD:9068941 20200609 RGD PMID:22833219|REF_RGD_ID:10402072 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9004441 Experimental Leukemia treatment ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:22781593|REF_RGD_ID:11352669 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9004955 Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate ISO RGD:732290 D RGD:7240710 20180130 OMIM 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9004955 Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hartsfield syndrome PMID:15605412|PMID:16757108|PMID:16764984|PMID:19504604|PMID:20536592|PMID:23657145|PMID:23812909|PMID:24204987|PMID:24888332|PMID:25064402|PMID:25326635|PMID:25741868|PMID:26931467|PMID:28492532|PMID:31474318 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21936542 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9006618 Liver Metastasis ISO RGD:732290 D RGD:9068941 20200609 RGD associated with colorectal cancer;mRNA:increased expression:colorectal mucosa: PMID:19082464|REF_RGD_ID:25330357 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9007261 Nonsyndromic Trigonocephaly ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trigonocephaly, nonsyndromic 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9007632 Encephalocraniocutaneous Lipomatosis ISO RGD:732290 D RGD:7240710 20190315 OMIM 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9007632 Encephalocraniocutaneous Lipomatosis ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis PMID:10766980|PMID:23819449|PMID:25705862|PMID:25741868|PMID:26619011|PMID:26822237|PMID:26942290|PMID:27626068|PMID:28492532|PMID:33448156 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9007730 Burns ISO RGD:620713 D RGD:9068941 20200609 RGD protein:increased expression:epidermis: PMID:9204964|REF_RGD_ID:10402083 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:10629055|PMID:12627230|PMID:15365636|PMID:15605412|PMID:16764984|PMID:17154279|PMID:17360555|PMID:17576681|PMID:17963255|PMID:18160472|PMID:18985070|PMID:19707180|PMID:20696889|PMID:22378383|PMID:23329143|PMID:23348397|PMID:23657145|PMID:24031091|PMID:25064402|PMID:25383892|PMID:25425165|PMID:25741868|PMID:25759380|PMID:26467025|PMID:26931467|PMID:27884173|PMID:28492532|PMID:9536098 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9008388 Trigonocephaly 1 ISO RGD:732290 D RGD:7240710 20180130 OMIM 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9008388 Trigonocephaly 1 ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trigonocephaly 1 PMID:10629055|PMID:11173846|PMID:12627230|PMID:14513299|PMID:15365636|PMID:15605412|PMID:15793702|PMID:16764984|PMID:17154279|PMID:17360555|PMID:17576681|PMID:17963255|PMID:18160472|PMID:18985070|PMID:19707180|PMID:20696889|PMID:22378383|PMID:23329143|PMID:23348397|PMID:23657145|PMID:24031091|PMID:25064402|PMID:25383892|PMID:25425165|PMID:25741868|PMID:25759380|PMID:26467025|PMID:26931467|PMID:27884173|PMID:28492532|PMID:9536098 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12514106 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732291 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.P250R (mouse) PMID:21538817|REF_RGD_ID:11251832 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9008763 Femoral Fractures ISO RGD:620713 D RGD:9068941 20200609 RGD PMID:11704499|REF_RGD_ID:11567258 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20179196|PMID:21936542 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9119 acute myeloid leukemia ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:23777766|PMID:27005999|REF_RGD_ID:11352310|REF_RGD_ID:11352670 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:22683780|REF_RGD_ID:11352665 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9296 cleft lip ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9296 cleft lip ISO RGD:732290 D RGD:9068941 20200609 RGD DNA:SNP: :rs13317 (human) PMID:24613087|REF_RGD_ID:11567264 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732291 D RGD:9068941 20200609 RGD PMID:22174314|REF_RGD_ID:10401888 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9452 fatty liver disease severity ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:32195457|REF_RGD_ID:25330354 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9970 obesity ISO RGD:620713 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus: PMID:21430024|REF_RGD_ID:10402094 12019925 FGFR1 fibroblast growth factor receptor 1 gene DOID:9970 obesity ISO RGD:732290 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue: PMID:21430024|REF_RGD_ID:10402094 12019985 PER3 period circadian regulator 3 gene DOID:0050628 advanced sleep phase syndrome ISO RGD:1352533 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple (human) PMID:11306557|REF_RGD_ID:1358557 12019985 PER3 period circadian regulator 3 gene DOID:0060001 withdrawal disorder ISO RGD:1352533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20738730 12019985 PER3 period circadian regulator 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1352533 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12019985 PER3 period circadian regulator 3 gene DOID:0080600 COVID-19 ISO RGD:1352533 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12019985 PER3 period circadian regulator 3 gene DOID:0110011 advanced sleep phase syndrome 1 ISO RGD:1352533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12019985 PER3 period circadian regulator 3 gene DOID:0110013 advanced sleep phase syndrome 3 ISO RGD:1352533 D RGD:7240710 20190315 OMIM 12019985 PER3 period circadian regulator 3 gene DOID:0110013 advanced sleep phase syndrome 3 ISO RGD:1352533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Advanced sleep phase syndrome 3 PMID:25741868|PMID:26903630 12019985 PER3 period circadian regulator 3 gene DOID:630 genetic disease ISO RGD:1352533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12019985 PER3 period circadian regulator 3 gene DOID:8552 chronic myeloid leukemia ISO RGD:1352533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16999817 12019985 PER3 period circadian regulator 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12019985 PER3 period circadian regulator 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1352533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20625127 12020048 RRS1 ribosome biogenesis regulator 1 homolog gene DOID:3910 lung adenocarcinoma ISO RGD:1322847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12020048 RRS1 ribosome biogenesis regulator 1 homolog gene DOID:630 genetic disease ISO RGD:1322847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12020048 RRS1 ribosome biogenesis regulator 1 homolog gene DOID:9006205 Animal Disease Models ISO RGD:1322847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12020053 NUP210L nucleoporin 210 like gene DOID:0070048 GAND syndrome ISO RGD:1344758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GAND SYNDROME PMID:21681106 12020053 NUP210L nucleoporin 210 like gene DOID:0111940 immunodeficiency 42 ISO RGD:1344758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12020053 NUP210L nucleoporin 210 like gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12020053 NUP210L nucleoporin 210 like gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 12020053 NUP210L nucleoporin 210 like gene DOID:1540 parathyroid carcinoma ISO RGD:1344758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12020053 NUP210L nucleoporin 210 like gene DOID:5812 MHC class II deficiency ISO RGD:1344758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12020053 NUP210L nucleoporin 210 like gene DOID:630 genetic disease ISO RGD:1344758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12020053 NUP210L nucleoporin 210 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12020096 H1-6 H1.6 linker histone, cluster member gene DOID:630 genetic disease ISO RGD:737047 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12020102 PCM1 pericentriolar material 1 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1349730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 12020102 PCM1 pericentriolar material 1 gene DOID:5419 schizophrenia ISO RGD:1349730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19048012 12020102 PCM1 pericentriolar material 1 gene DOID:630 genetic disease ISO RGD:1349730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12020102 PCM1 pericentriolar material 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1349730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 PMID:10980597|PMID:25741868 12020171 ATP13A2 ATPase cation transporting 13A2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1342911 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12020171 ATP13A2 ATPase cation transporting 13A2 gene DOID:0060556 Kufor-Rakeb syndrome ISO RGD:1342911 D RGD:7240710 20180130 OMIM 12020171 ATP13A2 ATPase cation transporting 13A2 gene DOID:0060556 Kufor-Rakeb syndrome ISO RGD:1342911 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kufor-Rakeb syndrome PMID:12169656|PMID:16199547|PMID:16964263|PMID:17485642|PMID:17576681|PMID:18075584|PMID:18075585|PMID:18414213|PMID:19015489|PMID:19085912|PMID:19360675|PMID:19458722|PMID:19705361|PMID:20137506|PMID:20227461|PMID:20683840|PMID:20816920|PMID:20853184|PMID:20976737|PMID:21060012|PMID:21094623|PMID:21542062|PMID:21665991|PMID:21696388|PMID:21714071|PMID:21724849|PMID:22296644|PMID:22388936|PMID:22743658|PMID:22768177|PMID:22847264|PMID:22995991|PMID:23499937|PMID:23522931|PMID:24088041|PMID:24399444|PMID:25374329|PMID:25466404|PMID:25741868|PMID:26467025|PMID:26633545|PMID:27165006|PMID:27294386|PMID:28137957|PMID:28492532|PMID:28518168|PMID:29163333|PMID:29606608|PMID:29903538|PMID:29966207|PMID:30232368|PMID:30833663|PMID:30868101|PMID:31771779|PMID:31944623|PMID:31996848|PMID:32461654|PMID:32707456|PMID:495089|PMID:9536098 12020171 ATP13A2 ATPase cation transporting 13A2 gene DOID:0080855 Parkinsonism ISO RGD:1342911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23046578 12020171 ATP13A2 ATPase cation transporting 13A2 gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1342911 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:16199547|PMID:16964263|PMID:20683840|PMID:21060012|PMID:21665991|PMID:21696388|PMID:21724849|PMID:22296644|PMID:22768177|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29163333|PMID:29966207 12020171 ATP13A2 ATPase cation transporting 13A2 gene DOID:0110784 hereditary spastic paraplegia 33 ISO RGD:1342911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic tetraparesis PMID:25741868 12020171 ATP13A2 ATPase cation transporting 13A2 gene DOID:0112348 hereditary spastic paraplegia 78 ISO RGD:1342911 D RGD:7240710 20190315 OMIM 12020171 ATP13A2 ATPase cation transporting 13A2 gene DOID:0112348 hereditary spastic paraplegia 78 ISO RGD:1342911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 78 PMID:12169656|PMID:16964263|PMID:18075584|PMID:18075585|PMID:18414213|PMID:19085912|PMID:19458722|PMID:19705361|PMID:20683840|PMID:21060012|PMID:21665991|PMID:21696388|PMID:21724849|PMID:22296644|PMID:22442086|PMID:22768177|PMID:25741868|PMID:26467025|PMID:28137957|PMID:28492532|PMID:29966207|PMID:30833663 12020171 ATP13A2 ATPase cation transporting 13A2 gene DOID:13548 secondary Parkinson disease ISO RGD:1342911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22285144 12020171 ATP13A2 ATPase cation transporting 13A2 gene DOID:14330 Parkinson's disease ISO RGD:1342911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23628791|PMID:25149416 12020171 ATP13A2 ATPase cation transporting 13A2 gene DOID:14330 Parkinson's disease ISO RGD:1342911 D RGD:9068941 20200609 RGD PMID:26223426|REF_RGD_ID:10450518 12020171 ATP13A2 ATPase cation transporting 13A2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:12193025 D RGD:9068941 20211105 OMIA Neuronal ceroid lipofuscinosis, 12 PMID:12061538|PMID:1471473|PMID:15691038|PMID:15771740|PMID:1609844|PMID:18004671|PMID:21362476|PMID:22022275|PMID:28860089|PMID:30956123|PMID:32219101|PMID:33769611 12020171 ATP13A2 ATPase cation transporting 13A2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1342911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22022275|PMID:22847264 12020171 ATP13A2 ATPase cation transporting 13A2 gene DOID:630 genetic disease ISO RGD:1342911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12169656|PMID:16199547|PMID:16964263|PMID:17485642|PMID:17576681|PMID:18075584|PMID:18075585|PMID:18414213|PMID:19015489|PMID:19085912|PMID:19360675|PMID:19458722|PMID:19705361|PMID:20137506|PMID:20683840|PMID:20816920|PMID:21060012|PMID:21542062|PMID:21665991|PMID:21696388|PMID:21714071|PMID:21724849|PMID:22296644|PMID:22743658|PMID:22768177|PMID:22995991|PMID:23499937|PMID:24399444|PMID:25374329|PMID:25466404|PMID:25741868|PMID:26467025|PMID:27294386|PMID:28492532|PMID:28518168|PMID:29966207|PMID:30232368|PMID:30833663|PMID:31771779|PMID:32461654|PMID:9536098 12020171 ATP13A2 ATPase cation transporting 13A2 gene DOID:9000304 Manganese Poisoning ISO RGD:1342911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22285144 12020171 ATP13A2 ATPase cation transporting 13A2 gene DOID:9002955 Nerve Degeneration ISO RGD:1342911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22847264 12020228 ZNF578 zinc finger protein 578 gene DOID:630 genetic disease ISO RGD:1346407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12020321 ZMYND11 zinc finger MYND-type containing 11 gene DOID:0070060 autosomal dominant intellectual developmental disorder 30 ISO RGD:1606319 D RGD:7240710 20180130 OMIM 12020321 ZMYND11 zinc finger MYND-type containing 11 gene DOID:0070060 autosomal dominant intellectual developmental disorder 30 ISO RGD:1606319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 30, WITH SPEECH DELAY AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 30 PMID:25217958|PMID:25741868|PMID:25741899|PMID:27334371|PMID:28191890|PMID:28492532|PMID:28708303|PMID:28933030|PMID:32097528|PMID:34216016 12020321 ZMYND11 zinc finger MYND-type containing 11 gene DOID:10534 stomach cancer ISO RGD:1606319 D RGD:9068941 20220819 RGD mRNA:decreased expression:stomach (human) PMID:34969361|REF_RGD_ID:153344525 12020321 ZMYND11 zinc finger MYND-type containing 11 gene DOID:1059 intellectual disability ISO RGD:1606319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25217958 12020321 ZMYND11 zinc finger MYND-type containing 11 gene DOID:12849 autistic disorder ISO RGD:1606319 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25217958 12020321 ZMYND11 zinc finger MYND-type containing 11 gene DOID:5419 schizophrenia ISO RGD:1606319 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12020321 ZMYND11 zinc finger MYND-type containing 11 gene DOID:630 genetic disease ISO RGD:1606319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25741899|PMID:27334371|PMID:28191890|PMID:28492532|PMID:28933030 12020321 ZMYND11 zinc finger MYND-type containing 11 gene DOID:9002091 Paragangliomas 5 ISO RGD:1606319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paragangliomas 5 12020321 ZMYND11 zinc finger MYND-type containing 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:25741899|PMID:27334371|PMID:28191890|PMID:28933030 12020321 ZMYND11 zinc finger MYND-type containing 11 gene DOID:9008086 Developmental Disabilities ISO RGD:1606319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741899|PMID:27334371|PMID:28191890|PMID:28933030 12020321 ZMYND11 zinc finger MYND-type containing 11 gene DOID:9008879 Self Mutilation ISO RGD:1606319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Self-mutilation PMID:25741868 12020361 CDA cytidine deaminase gene DOID:0060369 Parkinson's disease 6 ISO RGD:1322377 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12020361 CDA cytidine deaminase gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1322377 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12020361 CDA cytidine deaminase gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1322377 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12020361 CDA cytidine deaminase gene DOID:10534 stomach cancer ISO RGD:1322377 D RGD:9068941 20220616 RGD protein:increased expression:stomach: PMID:8076377|REF_RGD_ID:152995290 12020361 CDA cytidine deaminase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1322377 D RGD:9068941 20200609 RGD DNA:snp:cds:p.K27Q (human) PMID:18347182|REF_RGD_ID:2316365 12020361 CDA cytidine deaminase gene DOID:630 genetic disease ISO RGD:1322377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12020361 CDA cytidine deaminase gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1322377 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12020361 CDA cytidine deaminase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1322377 D RGD:9068941 20220616 RGD DNA:SNP:cds:rs1048977|rs12726436|rs2072671 (human) PMID:28347776|REF_RGD_ID:152995291 12020361 CDA cytidine deaminase gene DOID:9008939 Breast Neoplasms ISO RGD:1322377 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10811482|PMID:25330770 12020369 PHACTR2 phosphatase and actin regulator 2 gene DOID:0080600 COVID-19 ISO RGD:1344472 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12020369 PHACTR2 phosphatase and actin regulator 2 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1344472 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:28492532 12020369 PHACTR2 phosphatase and actin regulator 2 gene DOID:10652 Alzheimer's disease ISO RGD:1344472 D RGD:9068941 20200609 RGD mRNA: splice variants PMID:20590401|REF_RGD_ID:6483097 12020369 PHACTR2 phosphatase and actin regulator 2 gene DOID:14330 Parkinson's disease ISO RGD:1344472 D RGD:9068941 20200609 RGD DNA: snp: intron: rs11155313 PMID:19429005|REF_RGD_ID:6483095 12020369 PHACTR2 phosphatase and actin regulator 2 gene DOID:2377 multiple sclerosis ISO RGD:1344472 D RGD:9068941 20200609 RGD DNA: snp: : rs1015340 PMID:20546594|REF_RGD_ID:6483093 12020369 PHACTR2 phosphatase and actin regulator 2 gene DOID:630 genetic disease ISO RGD:1344472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12020393 WDR37 WD repeat domain 37 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1314666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318|PMID:31780822 12020393 WDR37 WD repeat domain 37 gene DOID:0111675 neurooculocardiogenitourinary syndrome ISO RGD:1314666 D RGD:7240710 20200219 OMIM 12020393 WDR37 WD repeat domain 37 gene DOID:0111675 neurooculocardiogenitourinary syndrome ISO RGD:1314666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurooculocardiogenitourinary syndrome PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318|PMID:31780822|PMID:34642815 12020393 WDR37 WD repeat domain 37 gene DOID:1059 intellectual disability ISO RGD:1314666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318 12020393 WDR37 WD repeat domain 37 gene DOID:10908 hydrocephalus ISO RGD:1314666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318 12020393 WDR37 WD repeat domain 37 gene DOID:12270 coloboma ISO RGD:1314666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coloboma PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318 12020393 WDR37 WD repeat domain 37 gene DOID:13938 amenorrhea ISO RGD:1314666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12020393 WDR37 WD repeat domain 37 gene DOID:1826 epilepsy ISO RGD:1314666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318 12020393 WDR37 WD repeat domain 37 gene DOID:630 genetic disease ISO RGD:1314666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:31327508|PMID:31327510|PMID:31780822 12020393 WDR37 WD repeat domain 37 gene DOID:9008086 Developmental Disabilities ISO RGD:1314666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318 12020393 WDR37 WD repeat domain 37 gene DOID:9009131 Ventriculomegaly ISO RGD:1314666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318 12020420 TCF7L2 transcription factor 7 like 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1317786 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 12020420 TCF7L2 transcription factor 7 like 2 gene DOID:10283 prostate cancer ISO RGD:1317786 D RGD:9068941 20200609 RGD DNA:SNP: :rs7903146 (human) PMID:24961829|REF_RGD_ID:13506825 12020420 TCF7L2 transcription factor 7 like 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:1317786 D RGD:9068941 20200609 RGD DNA:SNPs: :rs7094463, rs10749127, rs11196224 (human) PMID:25678841|REF_RGD_ID:13506821 12020420 TCF7L2 transcription factor 7 like 2 gene DOID:1059 intellectual disability ISO RGD:1317786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12020420 TCF7L2 transcription factor 7 like 2 gene DOID:11714 gestational diabetes susceptibility ISO RGD:1317786 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:18984664|REF_RGD_ID:2312455 12020420 TCF7L2 transcription factor 7 like 2 gene DOID:12849 autistic disorder ISO RGD:1317786 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868|PMID:34003604 12020420 TCF7L2 transcription factor 7 like 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12020420 TCF7L2 transcription factor 7 like 2 gene DOID:1612 breast cancer susceptibility ISO RGD:1317786 D RGD:9068941 20220526 RGD DNA:SNP: :rs7003146(human) PMID:24338422|REF_RGD_ID:152599188 12020420 TCF7L2 transcription factor 7 like 2 gene DOID:1793 pancreatic cancer ISO RGD:1317786 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:18772397|REF_RGD_ID:5490966 12020420 TCF7L2 transcription factor 7 like 2 gene DOID:299 adenocarcinoma ISO RGD:1317786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21892161 12020420 TCF7L2 transcription factor 7 like 2 gene DOID:630 genetic disease ISO RGD:1317786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12020420 TCF7L2 transcription factor 7 like 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1317786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12020420 TCF7L2 transcription factor 7 like 2 gene DOID:9000528 Coronary Disease ISO RGD:1317786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 12020420 TCF7L2 transcription factor 7 like 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1317786 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP (human) PMID:19506043|REF_RGD_ID:6906926 12020420 TCF7L2 transcription factor 7 like 2 gene DOID:9002211 Hyperalgesia ISO RGD:1317786 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:33607128 12020420 TCF7L2 transcription factor 7 like 2 gene DOID:9002221 Hyperplasia ISO RGD:1317786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21383188 12020420 TCF7L2 transcription factor 7 like 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:1317786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21383188 12020420 TCF7L2 transcription factor 7 like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868 12020420 TCF7L2 transcription factor 7 like 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1317786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12020420 TCF7L2 transcription factor 7 like 2 gene DOID:9006205 Animal Disease Models ISO RGD:1317786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12020420 TCF7L2 transcription factor 7 like 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1317786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12020420 TCF7L2 transcription factor 7 like 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:1317786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12020420 TCF7L2 transcription factor 7 like 2 gene DOID:9007692 Insulin Resistance ISO RGD:1317786 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:19509102|REF_RGD_ID:2312433 12020420 TCF7L2 transcription factor 7 like 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1317786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21892161|PMID:24836286 12020420 TCF7L2 transcription factor 7 like 2 gene DOID:9256 colorectal cancer ISO RGD:1317786 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:25617745|REF_RGD_ID:13450926 12020420 TCF7L2 transcription factor 7 like 2 gene DOID:9351 diabetes mellitus ISO RGD:1317786 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:SNP (human) PMID:19585101|REF_RGD_ID:2312417 12020420 TCF7L2 transcription factor 7 like 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:16415884|PMID:17206141|PMID:17245407|PMID:17340123|PMID:17460697|PMID:17463248|PMID:17463249|PMID:17470138|PMID:17503332|PMID:17609304|PMID:17671651|PMID:18097733|PMID:19602480|PMID:20118932|PMID:21673050 12020420 TCF7L2 transcription factor 7 like 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1317786 D RGD:7240710 20230505 OMIM 12020446 VNN3P vascular non-inflammatory molecule 3 gene DOID:8893 psoriasis ISO RGD:1351839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19322213 12020460 QDPR quinoid dihydropteridine reductase gene DOID:0081130 BH4-deficient hyperphenylalaninemia C ISO RGD:734380 D RGD:7240710 20180130 OMIM 12020460 QDPR quinoid dihydropteridine reductase gene DOID:0081130 BH4-deficient hyperphenylalaninemia C ISO RGD:734380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dihydropteridine reductase deficiency | ClinVar Annotator: match by term: Quinoid dihydropteridine reductase deficiency PMID:10408783|PMID:11153907|PMID:11694255|PMID:16199547|PMID:17576681|PMID:19099731|PMID:2116088|PMID:21890392|PMID:23138986|PMID:24033266|PMID:25124972|PMID:25155776|PMID:25741868|PMID:26006720|PMID:26589311|PMID:27246466|PMID:28492532|PMID:30109838|PMID:30221392|PMID:32905092|PMID:33822819|PMID:33903016|PMID:7627180|PMID:8326489|PMID:8518287|PMID:9341885|PMID:9536098|PMID:9744478 12020460 QDPR quinoid dihydropteridine reductase gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:734380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:25741868 12020460 QDPR quinoid dihydropteridine reductase gene DOID:10763 hypertension ISO RGD:619915 D RGD:9068941 20200609 RGD protein:decreased expression:aorta smooth muscle (rat) PMID:19743417|REF_RGD_ID:5128580 12020460 QDPR quinoid dihydropteridine reductase gene DOID:1824 status epilepticus ISO RGD:619915 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:17366478|REF_RGD_ID:5128581 12020460 QDPR quinoid dihydropteridine reductase gene DOID:630 genetic disease ISO RGD:734380 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12020460 QDPR quinoid dihydropteridine reductase gene DOID:9004590 Acute Liver Failure ISO RGD:734380 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 12020460 QDPR quinoid dihydropteridine reductase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619915 D RGD:9068941 20200609 RGD protein:decreased activity:brain (rat) PMID:2758679|REF_RGD_ID:5128601 12020460 QDPR quinoid dihydropteridine reductase gene DOID:9008914 Lead Poisoning ISO RGD:619915 D RGD:9068941 20200609 RGD protein:increased activity:brain, caudate nucleus (rat) PMID:2359144|REF_RGD_ID:5128598 12020460 QDPR quinoid dihydropteridine reductase gene DOID:9281 phenylketonuria ISO RGD:734380 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Phenylketonuria type 2 PMID:25741868|PMID:28492532|PMID:8326489 12020471 PNKP polynucleotide kinase 3'-phosphatase gene DOID:0050754 ataxia with oculomotor apraxia type 1 ISO RGD:1344743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia PMID:16199547|PMID:20118933|PMID:24033266|PMID:25728773|PMID:25741868|PMID:28492532|PMID:31167812|PMID:32504494 12020471 PNKP polynucleotide kinase 3'-phosphatase gene DOID:0080457 microcephaly, seizures, and developmental delay ISO RGD:1344743 D RGD:7240710 20180130 OMIM 12020471 PNKP polynucleotide kinase 3'-phosphatase gene DOID:0080457 microcephaly, seizures, and developmental delay ISO RGD:1344743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay PMID:10446192|PMID:11704758|PMID:15136689|PMID:16199547|PMID:17576681|PMID:18005052|PMID:18266750|PMID:18414213|PMID:18678442|PMID:18845387|PMID:20118933|PMID:21307862|PMID:21560189|PMID:22508754|PMID:23224214|PMID:23708187|PMID:24033266|PMID:24938145|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:26993267|PMID:27066567|PMID:27066586|PMID:27125728|PMID:27232581|PMID:27890643|PMID:28492532|PMID:29261713|PMID:29652299|PMID:29655203|PMID:29720203|PMID:30039206|PMID:31061747|PMID:31167812|PMID:31436889|PMID:31707899|PMID:32010037|PMID:32056211|PMID:32347949|PMID:32504494|PMID:32980744|PMID:33654647|PMID:9536098 12020471 PNKP polynucleotide kinase 3'-phosphatase gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1344743 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:10446192|PMID:11112660|PMID:11704758|PMID:15136689|PMID:15381417|PMID:15749016|PMID:16199547|PMID:17576681|PMID:18005052|PMID:18266750|PMID:18414213|PMID:18678442|PMID:18845387|PMID:20118933|PMID:21307862|PMID:21560189|PMID:22055185|PMID:22508754|PMID:23224214|PMID:23708187|PMID:24033266|PMID:24938145|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:26993267|PMID:27066567|PMID:27066586|PMID:27125728|PMID:27232581|PMID:27890643|PMID:28492532|PMID:29056246|PMID:29243230|PMID:29261713|PMID:29498415|PMID:29652299|PMID:29655203|PMID:29720203|PMID:29924869|PMID:30039206|PMID:31041400|PMID:31061747|PMID:31167812|PMID:31436889|PMID:31707899|PMID:32010037|PMID:32056211|PMID:32347949|PMID:32504494|PMID:32980744|PMID:33654647|PMID:9536098 12020471 PNKP polynucleotide kinase 3'-phosphatase gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:1344743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy PMID:25741868 12020471 PNKP polynucleotide kinase 3'-phosphatase gene DOID:0110179 Charcot-Marie-Tooth disease type 2B2 ISO RGD:1344743 D RGD:7240710 20200520 OMIM 12020471 PNKP polynucleotide kinase 3'-phosphatase gene DOID:0110179 Charcot-Marie-Tooth disease type 2B2 ISO RGD:1344743 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2 PMID:11112660|PMID:15749016|PMID:16199547|PMID:18414213|PMID:20118933|PMID:24033266|PMID:25728773|PMID:25741868|PMID:26467025|PMID:27066567|PMID:28492532|PMID:29261713|PMID:29655203|PMID:29720203|PMID:30039206|PMID:31061747|PMID:33654647 12020471 PNKP polynucleotide kinase 3'-phosphatase gene DOID:1059 intellectual disability ISO RGD:1344743 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20118933|PMID:22508754|PMID:23224214|PMID:25558065|PMID:25728773|PMID:25741868|PMID:28492532|PMID:31436889|PMID:31707899 12020471 PNKP polynucleotide kinase 3'-phosphatase gene DOID:10907 microcephaly ISO RGD:1344743 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20118933 12020471 PNKP polynucleotide kinase 3'-phosphatase gene DOID:1826 epilepsy ISO RGD:1344743 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12020471 PNKP polynucleotide kinase 3'-phosphatase gene DOID:630 genetic disease ISO RGD:1344743 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10446192|PMID:11112660|PMID:11704758|PMID:15136689|PMID:15381417|PMID:15749016|PMID:18005052|PMID:18266750|PMID:18414213|PMID:18678442|PMID:18845387|PMID:20118933|PMID:21307862|PMID:21560189|PMID:22055185|PMID:22508754|PMID:23224214|PMID:23708187|PMID:24033266|PMID:24938145|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:26993267|PMID:27066586|PMID:27125728|PMID:27232581|PMID:27890643|PMID:28492532|PMID:29261713|PMID:29652299|PMID:29655203|PMID:29720203|PMID:29924869|PMID:30039206|PMID:31061747|PMID:31436889|PMID:31707899|PMID:32010037|PMID:32347949|PMID:33654647 12020471 PNKP polynucleotide kinase 3'-phosphatase gene DOID:630 genetic disease ISO RGD:1344743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10446192|PMID:11112660|PMID:11704758|PMID:15136689|PMID:15381417|PMID:15749016|PMID:16199547|PMID:17576681|PMID:18005052|PMID:18266750|PMID:18414213|PMID:18678442|PMID:18845387|PMID:20118933|PMID:21307862|PMID:21560189|PMID:22055185|PMID:22508754|PMID:23224214|PMID:23708187|PMID:24033266|PMID:24938145|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:26993267|PMID:27066586|PMID:27125728|PMID:27232581|PMID:27890643|PMID:28492532|PMID:29056246|PMID:29261713|PMID:29652299|PMID:29655203|PMID:29720203|PMID:29924869|PMID:30039206|PMID:31061747|PMID:31436889|PMID:31707899|PMID:32010037|PMID:32056211|PMID:32347949|PMID:32980744|PMID:33654647|PMID:9536098 12020471 PNKP polynucleotide kinase 3'-phosphatase gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1344743 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:11112660|PMID:15749016|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29261713|PMID:29655203|PMID:29720203|PMID:30039206|PMID:31061747|PMID:33654647 12020471 PNKP polynucleotide kinase 3'-phosphatase gene DOID:9001793 Generalized Epilepsy ISO RGD:1344743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:18414213|PMID:25741868|PMID:28492532 12020471 PNKP polynucleotide kinase 3'-phosphatase gene DOID:9004565 Ataxia with Oculomotor Apraxia Type 4 ISO RGD:1344743 D RGD:7240710 20180130 OMIM 12020471 PNKP polynucleotide kinase 3'-phosphatase gene DOID:9004565 Ataxia with Oculomotor Apraxia Type 4 ISO RGD:1344743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 PMID:10446192|PMID:11704758|PMID:15136689|PMID:17576681|PMID:18005052|PMID:18266750|PMID:18678442|PMID:18845387|PMID:20118933|PMID:21307862|PMID:21560189|PMID:22508754|PMID:23224214|PMID:24033266|PMID:24938145|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:27066567|PMID:27125728|PMID:27890643|PMID:28492532|PMID:29261713|PMID:29652299|PMID:29655203|PMID:29720203|PMID:30039206|PMID:31061747|PMID:31436889|PMID:31707899|PMID:32010037|PMID:32347949|PMID:33654647|PMID:9536098 12020471 PNKP polynucleotide kinase 3'-phosphatase gene DOID:9006534 Nervous System Malformations ISO RGD:1344743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:20118933|PMID:22508754|PMID:23224214|PMID:25558065|PMID:25728773|PMID:25741868|PMID:28492532|PMID:31436889|PMID:31707899|PMID:32056211 12020471 PNKP polynucleotide kinase 3'-phosphatase gene DOID:9008086 Developmental Disabilities ISO RGD:1344743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 12020471 PNKP polynucleotide kinase 3'-phosphatase gene DOID:9008840 DNA Repair-Deficiency Disorders ISO RGD:1344743 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20118933 12020499 PELI1 pellino E3 ubiquitin protein ligase 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1322532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12020499 PELI1 pellino E3 ubiquitin protein ligase 1 gene DOID:37 skin disease ISO RGD:1322532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12020499 PELI1 pellino E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1322532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12020499 PELI1 pellino E3 ubiquitin protein ligase 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1322532 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 12020499 PELI1 pellino E3 ubiquitin protein ligase 1 gene DOID:9007964 Arsenic Poisoning ISO RGD:1322532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12020499 PELI1 pellino E3 ubiquitin protein ligase 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1322532 D RGD:9068941 20220617 RGD DNA:SNP:exon: (rs329497) (human) PMID:33470690|REF_RGD_ID:152995405 12020514 PIGN phosphatidylinositol glycan anchor biosynthesis class N gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1322753 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12020514 PIGN phosphatidylinositol glycan anchor biosynthesis class N gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1322753 D RGD:7240710 20180130 OMIM 12020514 PIGN phosphatidylinositol glycan anchor biosynthesis class N gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1322753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:16199547|PMID:17576681|PMID:18606301|PMID:21493957|PMID:22271396|PMID:24033266|PMID:24253414|PMID:24852103|PMID:25640679|PMID:25741868|PMID:26364997|PMID:26394714|PMID:26419326|PMID:26467025|PMID:26539891|PMID:26633542|PMID:26879448|PMID:26964041|PMID:27038415|PMID:27891564|PMID:28273706|PMID:28327575|PMID:28492532|PMID:29096607|PMID:29330547|PMID:30293990|PMID:30609409|PMID:30665423|PMID:32220244|PMID:32860008|PMID:33193741|PMID:33619735|PMID:33763700|PMID:34051595|PMID:34426522|PMID:34782754|PMID:34906502|PMID:35468813|PMID:9536098 12020514 PIGN phosphatidylinositol glycan anchor biosynthesis class N gene DOID:0080503 multiple congenital anomalies-hypotonia-seizures syndrome ISO RGD:1322753 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome PMID:16199547|PMID:24033266|PMID:24253414|PMID:25741868|PMID:26394714|PMID:27038415|PMID:28492532|PMID:30293990|PMID:30609409 12020514 PIGN phosphatidylinositol glycan anchor biosynthesis class N gene DOID:12859 choreatic disease ISO RGD:12180289 D RGD:9068941 20230128 OMIA Dyskinesia, paroxysmal, PIGN-related PMID:15474685|PMID:27891564|PMID:28703446|PMID:33769611|PMID:36086931 12020514 PIGN phosphatidylinositol glycan anchor biosynthesis class N gene DOID:1826 epilepsy ISO RGD:1322753 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12020514 PIGN phosphatidylinositol glycan anchor biosynthesis class N gene DOID:3910 lung adenocarcinoma ISO RGD:1322753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12020514 PIGN phosphatidylinositol glycan anchor biosynthesis class N gene DOID:4621 holoprosencephaly ISO RGD:1322754 D RGD:9068941 20220825 MouseDO 12020514 PIGN phosphatidylinositol glycan anchor biosynthesis class N gene DOID:5419 schizophrenia ISO RGD:1322753 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12020514 PIGN phosphatidylinositol glycan anchor biosynthesis class N gene DOID:630 genetic disease ISO RGD:1322753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:24033266|PMID:24253414|PMID:25741868|PMID:26394714|PMID:26467025|PMID:26633542|PMID:26879448|PMID:26964041|PMID:27038415|PMID:28327575|PMID:28492532|PMID:30293990|PMID:30609409|PMID:32220244|PMID:33619735 12020514 PIGN phosphatidylinositol glycan anchor biosynthesis class N gene DOID:9006205 Animal Disease Models ISO RGD:1322753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12020557 ZBTB21 zinc finger and BTB domain containing 21 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1321974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12020557 ZBTB21 zinc finger and BTB domain containing 21 gene DOID:0110266 cataract 9 multiple types ISO RGD:1321974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12020557 ZBTB21 zinc finger and BTB domain containing 21 gene DOID:630 genetic disease ISO RGD:1321974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12020557 ZBTB21 zinc finger and BTB domain containing 21 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1321974 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12020557 ZBTB21 zinc finger and BTB domain containing 21 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12020557 ZBTB21 zinc finger and BTB domain containing 21 gene DOID:9263 homocystinuria ISO RGD:1321974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12020557 ZBTB21 zinc finger and BTB domain containing 21 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12020569 NCOR2 nuclear receptor corepressor 2 gene DOID:1612 breast cancer disease_progression ISO RGD:1321111 D RGD:9068941 20200609 RGD PMID:19904269|REF_RGD_ID:2314971 12020569 NCOR2 nuclear receptor corepressor 2 gene DOID:2871 endometrial carcinoma ISO RGD:1321111 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:14751175|REF_RGD_ID:2298984 12020569 NCOR2 nuclear receptor corepressor 2 gene DOID:4971 myelofibrosis ISO RGD:1321112 D RGD:9068941 20220825 MouseDO OMIM:254450 12020569 NCOR2 nuclear receptor corepressor 2 gene DOID:630 genetic disease ISO RGD:1321111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12020569 NCOR2 nuclear receptor corepressor 2 gene DOID:8398 osteoarthritis susceptibility ISO RGD:1321111 D RGD:9068941 20200609 RGD PMID:15334463|REF_RGD_ID:1625347 12020569 NCOR2 nuclear receptor corepressor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1321111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12020569 NCOR2 nuclear receptor corepressor 2 gene DOID:9538 multiple myeloma ISO RGD:1321111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12020621 NTMT2 N-terminal Xaa-Pro-Lys N-methyltransferase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1601929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12020621 NTMT2 N-terminal Xaa-Pro-Lys N-methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1601929 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12020621 NTMT2 N-terminal Xaa-Pro-Lys N-methyltransferase 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1601929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12020621 NTMT2 N-terminal Xaa-Pro-Lys N-methyltransferase 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1601929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12020621 NTMT2 N-terminal Xaa-Pro-Lys N-methyltransferase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12020629 C16H16orf89 chromosome 16 C16orf89 homolog gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1602067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:28492532 12020629 C16H16orf89 chromosome 16 C16orf89 homolog gene DOID:630 genetic disease ISO RGD:1602067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12020644 RDX radixin gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1348654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29341352 12020644 RDX radixin gene DOID:0110482 autosomal recessive nonsyndromic deafness 24 ISO RGD:1348654 D RGD:7240710 20180130 OMIM 12020644 RDX radixin gene DOID:0110482 autosomal recessive nonsyndromic deafness 24 ISO RGD:1348654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 24 PMID:17226784|PMID:19215054|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27231709|PMID:28492532|PMID:29986705|PMID:30311386|PMID:32747562 12020644 RDX radixin gene DOID:1059 intellectual disability ISO RGD:1348654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12020644 RDX radixin gene DOID:12308 Dubin-Johnson syndrome ISO RGD:1553217 D RGD:9068941 20220825 MouseDO OMIM:237500 12020644 RDX radixin gene DOID:12704 ataxia telangiectasia ISO RGD:1348654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12020644 RDX radixin gene DOID:13580 cholestasis ISO RGD:1348654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17681005 12020644 RDX radixin gene DOID:630 genetic disease ISO RGD:1348654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 12020644 RDX radixin gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1348654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12020644 RDX radixin gene DOID:9004538 Hearing Loss ISO RGD:1348654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:25741868|PMID:30311386 12020681 GEMIN7 gem nuclear organelle associated protein 7 gene DOID:630 genetic disease ISO RGD:1354242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12020708 SERPINB10 serpin family B member 10 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:733342 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12020708 SERPINB10 serpin family B member 10 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:733342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 12020708 SERPINB10 serpin family B member 10 gene DOID:0080600 COVID-19 ISO RGD:733342 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12020708 SERPINB10 serpin family B member 10 gene DOID:630 genetic disease ISO RGD:733342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12020708 SERPINB10 serpin family B member 10 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16172807 12020745 UNC50 unc-50 inner nuclear membrane RNA binding protein gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1343022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 12020745 UNC50 unc-50 inner nuclear membrane RNA binding protein gene DOID:630 genetic disease ISO RGD:1343022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12020759 SAP130 Sin3A associated protein 130 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1606502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 12020759 SAP130 Sin3A associated protein 130 gene DOID:1682 congenital heart disease ISO RGD:1332063 D RGD:9068941 20220825 MouseDO 12020759 SAP130 Sin3A associated protein 130 gene DOID:630 genetic disease ISO RGD:1606502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12020759 SAP130 Sin3A associated protein 130 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1332063 D RGD:9068941 20220825 MouseDO OMIM:241550 | OMIM:614435 12020759 SAP130 Sin3A associated protein 130 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1606502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28530678 12020804 SLC29A2 solute carrier family 29 member 2 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:733577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:22219654|PMID:28492532 12020804 SLC29A2 solute carrier family 29 member 2 gene DOID:1059 intellectual disability ISO RGD:733577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12020804 SLC29A2 solute carrier family 29 member 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:733577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12020804 SLC29A2 solute carrier family 29 member 2 gene DOID:2746 glycogen storage disease V ISO RGD:733577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12020804 SLC29A2 solute carrier family 29 member 2 gene DOID:630 genetic disease ISO RGD:733577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12020804 SLC29A2 solute carrier family 29 member 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:733577 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12020804 SLC29A2 solute carrier family 29 member 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:733577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12020831 DMRT2 doublesex and mab-3 related transcription factor 2 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1319169 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12020831 DMRT2 doublesex and mab-3 related transcription factor 2 gene DOID:14447 gonadal dysgenesis ISO RGD:1319169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gonadal agenesis PMID:25741868 12020831 DMRT2 doublesex and mab-3 related transcription factor 2 gene DOID:630 genetic disease ISO RGD:1319169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12020840 HTN1 histatin 1 gene DOID:12849 autistic disorder ISO RGD:1353028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19367726 12020840 HTN1 histatin 1 gene DOID:630 genetic disease ISO RGD:1353028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12020840 HTN1 histatin 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1353028 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12020850 POLE3 DNA polymerase epsilon 3, accessory subunit gene DOID:630 genetic disease ISO RGD:1344068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12020858 IER3 immediate early response 3 gene DOID:0050553 JMP syndrome ISO RGD:1347080 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12020858 IER3 immediate early response 3 gene DOID:0080600 COVID-19 ISO RGD:1347080 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12020858 IER3 immediate early response 3 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1347080 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:14534530|REF_RGD_ID:1331843 12020858 IER3 immediate early response 3 gene DOID:10763 hypertension ISO RGD:1347080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20713914 12020858 IER3 immediate early response 3 gene DOID:11372 megacolon ISO RGD:1347080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12020858 IER3 immediate early response 3 gene DOID:2772 irritant dermatitis ISO RGD:1347080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27258892 12020858 IER3 immediate early response 3 gene DOID:37 skin disease ISO RGD:1347080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12020858 IER3 immediate early response 3 gene DOID:9007964 Arsenic Poisoning ISO RGD:1347080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12020864 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:1320737 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lennox-Gastaut syndrome PMID:25741868 12020864 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1320737 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12020864 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:0050834 CHARGE syndrome ISO RGD:1616514 D RGD:9068941 20220825 MouseDO OMIM:214800 12020864 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1320737 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 12020864 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1320737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure PMID:23708187|PMID:24207121|PMID:25741868|PMID:25783594|PMID:28492532|PMID:29358611 12020864 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:0081325 developmental and epileptic encephalopathy 94 ISO RGD:1320737 D RGD:7240710 20210421 OMIM 12020864 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:0081325 developmental and epileptic encephalopathy 94 ISO RGD:1320737 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 94 PMID:15955779|PMID:15988005|PMID:16199547|PMID:17576681|PMID:22178256|PMID:23020937|PMID:23708187|PMID:24207121|PMID:24614520|PMID:24932903|PMID:25262651|PMID:25326635|PMID:25363768|PMID:25384982|PMID:25418537|PMID:25640679|PMID:25741868|PMID:25783594|PMID:26467025|PMID:26615199|PMID:26754451|PMID:26795593|PMID:27781031|PMID:27824329|PMID:28074849|PMID:28166811|PMID:28191889|PMID:28191890|PMID:28492532|PMID:28554332|PMID:28960266|PMID:29358611|PMID:29720203|PMID:29740950|PMID:29933521|PMID:30525188|PMID:30564305|PMID:30868116|PMID:31031587|PMID:31170314|PMID:31273778|PMID:31332282|PMID:31618753|PMID:31677157|PMID:31785789|PMID:32005694|PMID:32238909|PMID:33004838|PMID:33176815|PMID:33619735|PMID:9326634|PMID:9536098 12020864 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1320737 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 12020864 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:10283 prostate cancer ISO RGD:1320737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12020864 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1320737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:25384982|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9326634|PMID:9536098 12020864 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1320737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:25384982|PMID:25741868|PMID:28492532|PMID:31785789|PMID:33004838|PMID:9326634|PMID:9536098 12020864 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:10907 microcephaly ISO RGD:1320737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 12020864 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:12849 autistic disorder ISO RGD:1320737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:23708187|PMID:24207121|PMID:24614520|PMID:25741868|PMID:25783594|PMID:26754451|PMID:28492532|PMID:31677157 12020864 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:1826 epilepsy ISO RGD:1320737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:28960266 12020864 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:3307 teratoma ISO RGD:1320737 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 12020864 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1320737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:28492532|PMID:29358611 12020864 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:630 genetic disease ISO RGD:1320737 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15955779|PMID:15988005|PMID:17576681|PMID:23708187|PMID:24207121|PMID:25384982|PMID:25741868|PMID:25783594|PMID:26073591|PMID:26467025|PMID:26615199|PMID:26795593|PMID:28074849|PMID:28191889|PMID:28191890|PMID:28492532|PMID:28554332|PMID:29358611|PMID:30564305|PMID:31273778|PMID:31332282|PMID:31618753|PMID:31677157|PMID:31785789|PMID:33004838|PMID:8232556|PMID:9326634|PMID:9536098|PMID:9565609 12020864 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320737 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12020864 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320737 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12020864 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:9006257 Growth Disorders ISO RGD:1320737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth Retardation 12020864 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1320737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:23708187|PMID:24207121|PMID:24614520|PMID:25326635|PMID:25741868|PMID:25783594|PMID:26754451|PMID:28492532|PMID:30525188|PMID:31677157 12020864 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:9008154 SIFRIM-HITZ-WEISS SYNDROME ISO RGD:1320737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sifrim-Hitz-Weiss syndrome 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1319250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:24362817|PMID:25335493|PMID:25480913|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30859559 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1319250 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1319250 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:0060578 Noonan syndrome 1 ISO RGD:1319250 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:16356934|PMID:25741868|PMID:25795793|PMID:26467025|PMID:28492532|PMID:30368668|PMID:33258288|PMID:33587123 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:0060580 Noonan syndrome 2 ISO RGD:1319250 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Noonan syndrome 2 | ClinVar Annotator: match by term: Noonan syndrome autosomal recessive PMID:16199547|PMID:17576681|PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26901136|PMID:27921248|PMID:28135719|PMID:28492532|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:31128261|PMID:31182298|PMID:31438995|PMID:31883238|PMID:32623905|PMID:33897756|PMID:35391499|PMID:9536098 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:0060580 Noonan syndrome 2 susceptibility ISO RGD:1319250 D RGD:7240710 20230517 OMIM 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:0060588 Noonan syndrome 10 ISO RGD:1319250 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: LZTR1-Related Disorder | ClinVar Annotator: match by term: Noonan syndrome 10 PMID:16356934|PMID:18948947|PMID:24362817|PMID:24448499|PMID:25049390|PMID:25303977|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26467025|PMID:27921248|PMID:28017249|PMID:28492532|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30664951|PMID:30665374|PMID:30859559|PMID:31182298|PMID:31533111|PMID:31825158|PMID:32041611|PMID:32981126|PMID:33258288|PMID:33413596|PMID:33587123 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:0060588 Noonan syndrome 10 susceptibility ISO RGD:1319250 D RGD:7240710 20230517 OMIM 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:0080174 bladder exstrophy ISO RGD:1319250 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bladder exstrophy PMID:28492532 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:0080690 RASopathy ISO RGD:1319250 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: RASopathy PMID:16356934|PMID:24362817|PMID:25741868|PMID:25795793|PMID:26467025|PMID:27921248|PMID:28492532|PMID:29409008|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:31128261|PMID:31438995|PMID:31533111|PMID:31825158|PMID:33258288|PMID:33587123 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1319250 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:25741868 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1319250 D RGD:9068941 20220421 RGD mRNA:altered expression:stomach, tumor (human) PMID:29069277|REF_RGD_ID:151893464 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:1059 intellectual disability ISO RGD:1319250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1319250 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:11372 megacolon ISO RGD:1319250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1319250 D RGD:9068941 20220415 RGD DNA:missense mutation:c.1394C>T p.A465V, c.1330G>A p.D444N (human) PMID:32004086|REF_RGD_ID:151708727 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:1319250 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:12849 autistic disorder ISO RGD:1319250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:1826 epilepsy ISO RGD:1319250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:3068 glioblastoma ISO RGD:1319250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23917401 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:3068 glioblastoma ISO RGD:1319250 D RGD:9068941 20220415 RGD DNA:mutations:multiple (human) PMID:23917401|REF_RGD_ID:151708722 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:3192 neurilemmoma ISO RGD:1319250 D RGD:9068941 20220414 RGD DNA:missense mutation:cds,multiple (human) PMID:24362817|REF_RGD_ID:151676717 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:3204 neurilemmomatosis ISO RGD:1319250 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Schwannomatosis | ClinVar Annotator: match by term: Schwannomatosis 2 PMID:16199547|PMID:17576681|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25303977|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26803811|PMID:27921248|PMID:28017249|PMID:28121514|PMID:28191889|PMID:28492532|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:31128261|PMID:31130284|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31533111|PMID:31825158|PMID:31980526|PMID:32371905|PMID:32443592|PMID:32981126|PMID:33258288|PMID:33413596|PMID:34184824|PMID:35453828|PMID:35806449|PMID:35979676|PMID:9536098 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:3204 neurilemmomatosis susceptibility ISO RGD:1319250 D RGD:7240710 20230517 OMIM 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:3490 Noonan syndrome ISO RGD:1319250 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome PMID:16356934|PMID:25741868|PMID:25795793|PMID:26467025|PMID:28492532|PMID:30368668|PMID:33258288|PMID:33587123 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1319250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:5419 schizophrenia ISO RGD:1319250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1319250 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29409008|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1319250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:630 genetic disease ISO RGD:1319250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:16356934|PMID:18072270|PMID:18948947|PMID:19582488|PMID:22105938|PMID:23401320|PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:27472264|PMID:28295212|PMID:28492532|PMID:29409008|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:31533111|PMID:31573083|PMID:31825158 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1319250 D RGD:9068941 20220421 RGD DNA:missense mutation:cds, liver (human) PMID:28622513|REF_RGD_ID:151893487 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:9003145 Nuchal Bleb, Familial ISO RGD:1319250 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Fetal cystic hygroma PMID:25741868|PMID:25795793|PMID:28492532|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:31533111|PMID:31825158 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26467025|PMID:26803811|PMID:26901136|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28121514|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31128261|PMID:31130284|PMID:31155615|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31527676|PMID:31533111|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32059087|PMID:32310333|PMID:32371905|PMID:32443592|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32746448|PMID:33084842|PMID:33219631|PMID:33318624|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34079577|PMID:34113392|PMID:34136434|PMID:34184824|PMID:34401172|PMID:35391499|PMID:35453828|PMID:35806449|PMID:35813072|PMID:9536098 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319250 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26467025|PMID:26803811|PMID:26901136|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28121514|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:28991257|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31128261|PMID:31130284|PMID:31155615|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31527676|PMID:31533111|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32059087|PMID:32310333|PMID:32368696|PMID:32371905|PMID:32443592|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32746448|PMID:33084842|PMID:33219631|PMID:33318624|PMID:33407364|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34079577|PMID:34113392|PMID:34136434|PMID:34184824|PMID:34401172|PMID:35391499|PMID:35418823|PMID:35453828|PMID:35806449|PMID:35813072|PMID:35979676|PMID:9536098 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:9007096 Stroke ISO RGD:1319250 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:28191889|PMID:28492532 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:9007661 Dwarfism ISO RGD:1319250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Short stature PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29384852|PMID:29409008|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:31182298 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1319250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Hydrops fetalis PMID:25303977|PMID:25741868|PMID:28492532|PMID:32981126|PMID:33258288 12020922 LZTR1 leucine zipper like post translational regulator 1 gene DOID:9008582 Developmental Disease ISO RGD:1319250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:24362817|PMID:25741868|PMID:27921248|PMID:28492532|PMID:29409008|PMID:31128261|PMID:31438995 12020951 ATP1B2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:0050753 cerebellar ataxia ISO RGD:12374603 D RGD:9068941 20210604 OMIA Ataxia, cerebellar, ATP1B2-related PMID:28620085 12020951 ATP1B2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:0060041 autism spectrum disorder ISO RGD:736555 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12020951 ATP1B2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:736555 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12020951 ATP1B2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:736555 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12020951 ATP1B2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:12177 common variable immunodeficiency ISO RGD:736555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12020951 ATP1B2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:736555 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 12020951 ATP1B2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:2729 dyskeratosis congenita ISO RGD:736555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12020951 ATP1B2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:736555 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12020951 ATP1B2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:3070 high grade glioma ISO RGD:736555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16865689 12020951 ATP1B2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25129146 12020951 ATP1B2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:630 genetic disease ISO RGD:736555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12020961 ABCA10 ATP binding cassette subfamily A member 10 gene DOID:630 genetic disease ISO RGD:1347313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12020961 ABCA10 ATP binding cassette subfamily A member 10 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1347313 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12021005 WDR4 WD repeat domain 4 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1320425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12021005 WDR4 WD repeat domain 4 gene DOID:0080694 Galloway-Mowat syndrome ISO RGD:1320425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome PMID:25741868|PMID:30079490 12021005 WDR4 WD repeat domain 4 gene DOID:0081051 microcephaly, growth deficiency, seizures, and brain malformations ISO RGD:1320425 D RGD:7240710 20190315 OMIM 12021005 WDR4 WD repeat domain 4 gene DOID:0081051 microcephaly, growth deficiency, seizures, and brain malformations ISO RGD:1320425 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Microcephaly, growth deficiency, seizures, and brain malformations PMID:25741868|PMID:26416026|PMID:28492532 12021005 WDR4 WD repeat domain 4 gene DOID:0110266 cataract 9 multiple types ISO RGD:1320425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12021005 WDR4 WD repeat domain 4 gene DOID:630 genetic disease ISO RGD:1320425 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12021005 WDR4 WD repeat domain 4 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320425 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12021005 WDR4 WD repeat domain 4 gene DOID:9000383 Galloway-Mowat Syndrome 6 ISO RGD:1320425 D RGD:7240710 20190315 OMIM 12021005 WDR4 WD repeat domain 4 gene DOID:9000383 Galloway-Mowat Syndrome 6 ISO RGD:1320425 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 6 PMID:25741868|PMID:26416026|PMID:28492532|PMID:28617965|PMID:29597095|PMID:30079490 12021005 WDR4 WD repeat domain 4 gene DOID:9263 homocystinuria ISO RGD:1320425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12021005 WDR4 WD repeat domain 4 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12021029 ISL1 ISL LIM homeobox 1 gene DOID:0060224 atrial fibrillation ISO RGD:736062 D RGD:9068941 20230406 RGD DNA:mutation:cds:c.481G>T (human) PMID:32771629|REF_RGD_ID:243049245 12021029 ISL1 ISL LIM homeobox 1 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:736062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BLADDER EXSTROPHY AND EPISPADIAS COMPLEX | ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex 12021029 ISL1 ISL LIM homeobox 1 gene DOID:11054 urinary bladder cancer ISO RGD:736062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26332997 12021029 ISL1 ISL LIM homeobox 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:736062 D RGD:9068941 20230406 RGD DNA:mutation:cds:c.631A>T(human) PMID:30536204|REF_RGD_ID:243049244 12021029 ISL1 ISL LIM homeobox 1 gene DOID:1459 hypothyroidism susceptibility ISO RGD:62250 D RGD:9068941 20230406 RGD PMID:26296153|REF_RGD_ID:11353031 12021029 ISL1 ISL LIM homeobox 1 gene DOID:1657 ventricular septal defect ISO RGD:736062 D RGD:9068941 20230406 RGD DNA:polymorphisms: :rs3762977,IVS1+17C(human) PMID:23572340|REF_RGD_ID:243048461 12021029 ISL1 ISL LIM homeobox 1 gene DOID:1657 ventricular septal defect susceptibility ISO RGD:736062 D RGD:9068941 20230406 RGD DNA:SNP: :rs1017(human) PMID:24634231|REF_RGD_ID:243049248 12021029 ISL1 ISL LIM homeobox 1 gene DOID:1682 congenital heart disease ISO RGD:736062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of 12021029 ISL1 ISL LIM homeobox 1 gene DOID:1682 congenital heart disease no_association ISO RGD:736062 D RGD:9068941 20230406 RGD DNA:SNPs:3'UTR:(human) PMID:23229290|REF_RGD_ID:243049243 12021029 ISL1 ISL LIM homeobox 1 gene DOID:1682 congenital heart disease susceptibility ISO RGD:736062 D RGD:9068941 20230406 RGD DNA:SNPs, haplotype:intron, 3'UTR:(human) PMID:20520780|REF_RGD_ID:243049242 12021029 ISL1 ISL LIM homeobox 1 gene DOID:1882 atrial heart septal defect susceptibility ISO RGD:736062 D RGD:9068941 20230406 RGD DNA:SNP: :rs1017(human) PMID:24634231|REF_RGD_ID:243049248 12021029 ISL1 ISL LIM homeobox 1 gene DOID:5844 myocardial infarction ISO RGD:62250 D RGD:9068941 20230406 RGD PMID:22727192|REF_RGD_ID:243048464 12021029 ISL1 ISL LIM homeobox 1 gene DOID:5844 myocardial infarction ameliorates ISO RGD:736062 D RGD:9068941 20230406 RGD PMID:29482621|REF_RGD_ID:243048463 12021029 ISL1 ISL LIM homeobox 1 gene DOID:630 genetic disease ISO RGD:736062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021029 ISL1 ISL LIM homeobox 1 gene DOID:6406 double outlet right ventricle ISO RGD:736062 D RGD:9068941 20230406 RGD DNA:mutation:cds:c.225C>G(human) PMID:31484864|REF_RGD_ID:243048467 12021029 ISL1 ISL LIM homeobox 1 gene DOID:769 neuroblastoma ISO RGD:736062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30127528 12021029 ISL1 ISL LIM homeobox 1 gene DOID:9003370 Dyslipidemias treatment ISO RGD:61957 D RGD:9068941 20230413 RGD PMID:32277945|REF_RGD_ID:243049251 12021029 ISL1 ISL LIM homeobox 1 gene DOID:9003370 Dyslipidemias treatment ISO RGD:62250 D RGD:9068941 20230413 RGD PMID:32277945|REF_RGD_ID:243049251 12021029 ISL1 ISL LIM homeobox 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12021029 ISL1 ISL LIM homeobox 1 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:736062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26332997 12021029 ISL1 ISL LIM homeobox 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:61957 D RGD:9068941 20230413 RGD mRNA,protein:decreased expression:pancreas: PMID:30341898|REF_RGD_ID:243065124 12021029 ISL1 ISL LIM homeobox 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736062 D RGD:9068941 20200609 RGD associated with Obesity;DNA:SNP:promoter:g.-47A>G (human) PMID:11978668|REF_RGD_ID:2311117 12021029 ISL1 ISL LIM homeobox 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:736062 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:15161765|REF_RGD_ID:2311116 12021040 AFAP1 actin filament associated protein 1 gene DOID:1067 open-angle glaucoma susceptibility ISO RGD:1605642 D RGD:9068941 20200609 RGD DNA:SNPs: :rs4619890,rs4478172(human) PMID:25173105|REF_RGD_ID:13673886 12021040 AFAP1 actin filament associated protein 1 gene DOID:630 genetic disease ISO RGD:1605642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021062 PDS5B PDS5 cohesin associated factor B gene DOID:630 genetic disease ISO RGD:1321969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021106 LOC100977537 argonaute RISC component 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12021106 LOC100977537 argonaute RISC component 4 gene DOID:630 genetic disease ISO RGD:1312105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021137 FRMD4A FERM domain containing 4A gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1350302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12021137 FRMD4A FERM domain containing 4A gene DOID:10907 microcephaly ISO RGD:1350302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12021137 FRMD4A FERM domain containing 4A gene DOID:303 substance-related disorder ISO RGD:1350302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12021137 FRMD4A FERM domain containing 4A gene DOID:630 genetic disease ISO RGD:1350302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021137 FRMD4A FERM domain containing 4A gene DOID:9006921 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA ISO RGD:1350302 D RGD:7240710 20190315 OMIM 12021137 FRMD4A FERM domain containing 4A gene DOID:9006921 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA ISO RGD:1350302 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia PMID:25388005|PMID:25741868|PMID:28492532 12021166 LOC100978392 gamma-crystallin C gene DOID:0110235 cataract 2 multiple types ISO RGD:736578 D RGD:7240710 20180130 OMIM 12021166 LOC100978392 gamma-crystallin C gene DOID:0110235 cataract 2 multiple types ISO RGD:736578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 2, Coppock-like | ClinVar Annotator: match by term: Cataract 2, multiple types | ClinVar Annotator: match by term: Cataract, Coppock-like | ClinVar Annotator: match by term: Nuclear pulverulent cataract PMID:10521291|PMID:10914683|PMID:12011157|PMID:12601044|PMID:17679936|PMID:18587492|PMID:19204787|PMID:22052681|PMID:22876111|PMID:24033266|PMID:24281366|PMID:25148791|PMID:25741868|PMID:26694549|PMID:27307692|PMID:27535533|PMID:28298635|PMID:28492532|PMID:30450742|PMID:8004095|PMID:8190472 12021166 LOC100978392 gamma-crystallin C gene DOID:0110248 cataract 30 ISO RGD:736578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract, Coppock-like PMID:24281366|PMID:26694549 12021166 LOC100978392 gamma-crystallin C gene DOID:0110839 Usher syndrome type 2C ISO RGD:736578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2C PMID:24033266|PMID:25741868|PMID:28492532 12021166 LOC100978392 gamma-crystallin C gene DOID:14557 primary pulmonary hypertension ISO RGD:736578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12021166 LOC100978392 gamma-crystallin C gene DOID:630 genetic disease ISO RGD:736578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021166 LOC100978392 gamma-crystallin C gene DOID:83 cataract ISO RGD:736578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:24281366|PMID:26694549 12021166 LOC100978392 gamma-crystallin C gene DOID:83 cataract susceptibility ISO RGD:736578 D RGD:9068941 20200609 RGD Coppock-like cataract, OMIM:604307;DNA:transversion:exon:225A>C PMID:10521291|REF_RGD_ID:1601015 12021166 LOC100978392 gamma-crystallin C gene DOID:8466 retinal degeneration ISO RGD:2421 D RGD:9068941 20200609 RGD PMID:16602829|REF_RGD_ID:2317932 12021166 LOC100978392 gamma-crystallin C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12021185 DDX20 DEAD-box helicase 20 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1320818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 12021185 DDX20 DEAD-box helicase 20 gene DOID:630 genetic disease ISO RGD:1320818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021200 CSNK2A1 casein kinase 2 alpha 1 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:733323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 12021200 CSNK2A1 casein kinase 2 alpha 1 gene DOID:0060041 autism spectrum disorder ISO RGD:733323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12021200 CSNK2A1 casein kinase 2 alpha 1 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:733323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:20206331|PMID:22824638|PMID:24239381|PMID:25462087|PMID:28492532 12021200 CSNK2A1 casein kinase 2 alpha 1 gene DOID:1059 intellectual disability ISO RGD:733323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12021200 CSNK2A1 casein kinase 2 alpha 1 gene DOID:1612 breast cancer ISO RGD:733323 D RGD:9068941 20200609 RGD PMID:11827167|REF_RGD_ID:727632 12021200 CSNK2A1 casein kinase 2 alpha 1 gene DOID:1749 squamous cell carcinoma ISO RGD:733323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 12021200 CSNK2A1 casein kinase 2 alpha 1 gene DOID:5844 myocardial infarction ISO RGD:621663 D RGD:9068941 20200609 RGD PMID:15090263|REF_RGD_ID:11565830 12021200 CSNK2A1 casein kinase 2 alpha 1 gene DOID:630 genetic disease ISO RGD:733323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11574463|PMID:24395637|PMID:25363768|PMID:25741868|PMID:27048600|PMID:28135719|PMID:28492532|PMID:29240241|PMID:29383814|PMID:29619237|PMID:30655572|PMID:32746809 12021200 CSNK2A1 casein kinase 2 alpha 1 gene DOID:9001345 Okur-Chung Neurodevelopmental Syndrome ISO RGD:733323 D RGD:7240710 20190315 OMIM 12021200 CSNK2A1 casein kinase 2 alpha 1 gene DOID:9001345 Okur-Chung Neurodevelopmental Syndrome ISO RGD:733323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Okur-Chung neurodevelopmental syndrome PMID:11574463|PMID:24395637|PMID:25363768|PMID:25741868|PMID:27048600|PMID:28135719|PMID:28492532|PMID:28725024|PMID:29240241|PMID:29383814|PMID:29619237|PMID:30655572|PMID:32746809|PMID:34038195 12021200 CSNK2A1 casein kinase 2 alpha 1 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:733324 D RGD:9068941 20200609 RGD PMID:16651637|REF_RGD_ID:11565123 12021200 CSNK2A1 casein kinase 2 alpha 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12021200 CSNK2A1 casein kinase 2 alpha 1 gene DOID:9004464 Skin Neoplasms ISO RGD:733323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 12021200 CSNK2A1 casein kinase 2 alpha 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:621663 D RGD:9068941 20200609 RGD PMID:11827167|REF_RGD_ID:727632 12021200 CSNK2A1 casein kinase 2 alpha 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733324 D RGD:9068941 20200609 RGD PMID:11827167|REF_RGD_ID:727632 12021200 CSNK2A1 casein kinase 2 alpha 1 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:733323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency PMID:28492532 12021200 CSNK2A1 casein kinase 2 alpha 1 gene DOID:9008051 Luscan-Lumish Syndrome ISO RGD:733323 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Luscan-Lumish syndrome PMID:25741868 12021200 CSNK2A1 casein kinase 2 alpha 1 gene DOID:9008582 Developmental Disease ISO RGD:733323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:11574463|PMID:24395637|PMID:25741868|PMID:27048600|PMID:28135719|PMID:29383814 12021222 CEP44 centrosomal protein 44 gene DOID:630 genetic disease ISO RGD:1318333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021222 CEP44 centrosomal protein 44 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12021254 HBS1L HBS1 like translational GTPase gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1318318 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12021254 HBS1L HBS1 like translational GTPase gene DOID:12241 beta thalassemia ISO RGD:1318318 D RGD:9068941 20200609 RGD DNA:SNP:exon:32C>T (human) PMID:18839276|REF_RGD_ID:11353877 12021254 HBS1L HBS1 like translational GTPase gene DOID:630 genetic disease ISO RGD:1318318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021280 SLC30A8 solute carrier family 30 member 8 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1317968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:24584071|PMID:31676859 12021280 SLC30A8 solute carrier family 30 member 8 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1317968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12021280 SLC30A8 solute carrier family 30 member 8 gene DOID:206 hereditary multiple exostoses ISO RGD:1317968 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 12021280 SLC30A8 solute carrier family 30 member 8 gene DOID:630 genetic disease ISO RGD:1317968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12021280 SLC30A8 solute carrier family 30 member 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:17293876|PMID:17460697|PMID:17463246|PMID:17463248|PMID:17463249|PMID:24584071|PMID:31676859 12021280 SLC30A8 solute carrier family 30 member 8 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1317968 D RGD:7240710 20230505 OMIM 12021312 ABCD3 ATP binding cassette subfamily D member 3 gene DOID:0111066 congenital bile acid synthesis defect 5 ISO RGD:736620 D RGD:7240710 20180130 OMIM 12021312 ABCD3 ATP binding cassette subfamily D member 3 gene DOID:0111066 congenital bile acid synthesis defect 5 ISO RGD:736620 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect 5 PMID:25168382|PMID:25741868|PMID:28492532 12021312 ABCD3 ATP binding cassette subfamily D member 3 gene DOID:630 genetic disease ISO RGD:736620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021312 ABCD3 ATP binding cassette subfamily D member 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12021312 ABCD3 ATP binding cassette subfamily D member 3 gene DOID:905 Zellweger syndrome ISO RGD:736620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1301993 12021312 ABCD3 ATP binding cassette subfamily D member 3 gene DOID:905 Zellweger syndrome susceptibility ISO RGD:736620 D RGD:9068941 20200609 RGD PMID:1301993|REF_RGD_ID:1598658 12021363 IFNGR2 interferon gamma receptor 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1316782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12021363 IFNGR2 interferon gamma receptor 2 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1316782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12021363 IFNGR2 interferon gamma receptor 2 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1316782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12021363 IFNGR2 interferon gamma receptor 2 gene DOID:0080600 COVID-19 ISO RGD:1316782 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12021363 IFNGR2 interferon gamma receptor 2 gene DOID:0111955 immunodeficiency 27A ISO RGD:1316782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 12021363 IFNGR2 interferon gamma receptor 2 gene DOID:0111995 immunodeficiency 28 ISO RGD:1316782 D RGD:7240710 20180130 OMIM 12021363 IFNGR2 interferon gamma receptor 2 gene DOID:0111995 immunodeficiency 28 ISO RGD:1316782 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 28 PMID:15924140|PMID:16690980|PMID:16885196|PMID:17576681|PMID:18625743|PMID:23161749|PMID:24033266|PMID:25135595|PMID:25741868|PMID:27522156|PMID:28492532|PMID:29106381|PMID:30814731|PMID:31222290|PMID:9536098 12021363 IFNGR2 interferon gamma receptor 2 gene DOID:630 genetic disease ISO RGD:1316782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12021363 IFNGR2 interferon gamma receptor 2 gene DOID:9004697 Interferon Gamma, Receptor 1, Deficiency ISO RGD:1316782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interferon gamma receptor deficiency PMID:16690980|PMID:16885196|PMID:28492532 12021363 IFNGR2 interferon gamma receptor 2 gene DOID:9005698 ZTTK Syndrome ISO RGD:1316782 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 12021363 IFNGR2 interferon gamma receptor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1316783 D RGD:9068941 20220825 MouseDO OMIM:222100 12021375 LOC100990116 phosphofurin acidic cluster sorting protein 1 gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:735286 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:25741868|PMID:28492532 12021375 LOC100990116 phosphofurin acidic cluster sorting protein 1 gene DOID:0070047 Schuurs-Hoeijmakers syndrome ISO RGD:735286 D RGD:7240710 20180130 OMIM 12021375 LOC100990116 phosphofurin acidic cluster sorting protein 1 gene DOID:0070047 Schuurs-Hoeijmakers syndrome ISO RGD:735286 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Schuurs-Hoeijmakers syndrome PMID:17576681|PMID:23159249|PMID:25326635|PMID:25356970|PMID:25522177|PMID:25533962|PMID:25741868|PMID:25741881|PMID:26795593|PMID:26842493|PMID:26944241|PMID:27681385|PMID:28111752|PMID:28135719|PMID:28471432|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28975623|PMID:29550517|PMID:30113927|PMID:30588754|PMID:30690871|PMID:32963807|PMID:34068396|PMID:9536098 12021375 LOC100990116 phosphofurin acidic cluster sorting protein 1 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:735286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 12021375 LOC100990116 phosphofurin acidic cluster sorting protein 1 gene DOID:0110873 holoprosencephaly 9 ISO RGD:735286 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 9 PMID:25741868 12021375 LOC100990116 phosphofurin acidic cluster sorting protein 1 gene DOID:10487 Hirschsprung's disease ISO RGD:735286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon PMID:28492532 12021375 LOC100990116 phosphofurin acidic cluster sorting protein 1 gene DOID:1059 intellectual disability ISO RGD:735286 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23159249|PMID:25326635|PMID:25356970|PMID:25522177|PMID:25533962|PMID:25741868|PMID:25741881|PMID:26795593|PMID:26842493|PMID:26944241|PMID:27681385|PMID:28111752|PMID:28135719|PMID:28471432|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28975623|PMID:29550517|PMID:30113927|PMID:30588754|PMID:30690871|PMID:32963807|PMID:34068396 12021375 LOC100990116 phosphofurin acidic cluster sorting protein 1 gene DOID:10892 hypospadias ISO RGD:735286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypospadias PMID:25741868 12021375 LOC100990116 phosphofurin acidic cluster sorting protein 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:735286 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12021375 LOC100990116 phosphofurin acidic cluster sorting protein 1 gene DOID:2746 glycogen storage disease V ISO RGD:735286 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12021375 LOC100990116 phosphofurin acidic cluster sorting protein 1 gene DOID:303 substance-related disorder ISO RGD:735286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12021375 LOC100990116 phosphofurin acidic cluster sorting protein 1 gene DOID:3312 bipolar disorder ISO RGD:735286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 12021375 LOC100990116 phosphofurin acidic cluster sorting protein 1 gene DOID:5419 schizophrenia ISO RGD:735286 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12021375 LOC100990116 phosphofurin acidic cluster sorting protein 1 gene DOID:630 genetic disease ISO RGD:735286 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23159249|PMID:25326635|PMID:25356970|PMID:25522177|PMID:25533962|PMID:25741868|PMID:25741881|PMID:26795593|PMID:26842493|PMID:26944241|PMID:27681385|PMID:28111752|PMID:28135719|PMID:28471432|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28975623|PMID:29550517|PMID:30113927|PMID:30588754|PMID:30690871|PMID:32963807|PMID:34068396|PMID:9536098 12021375 LOC100990116 phosphofurin acidic cluster sorting protein 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:735286 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12021375 LOC100990116 phosphofurin acidic cluster sorting protein 1 gene DOID:9004108 Fused Kidney ISO RGD:735286 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Horseshoe kidney PMID:23159249|PMID:25326635|PMID:25356970|PMID:25522177|PMID:25533962|PMID:25741868|PMID:25741881|PMID:26795593|PMID:26842493|PMID:26944241|PMID:27681385|PMID:28111752|PMID:28135719|PMID:28471432|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28975623|PMID:29550517|PMID:30113927|PMID:30588754|PMID:30690871|PMID:32963807|PMID:34068396 12021375 LOC100990116 phosphofurin acidic cluster sorting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735286 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:23159249|PMID:25326635|PMID:25356970|PMID:25522177|PMID:25533962|PMID:25741868|PMID:25741881|PMID:26795593|PMID:26842493|PMID:26944241|PMID:27681385|PMID:28111752|PMID:28135719|PMID:28471432|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28975623|PMID:29550517|PMID:30113927|PMID:30588754|PMID:30690871|PMID:32963807|PMID:34068396 12021375 LOC100990116 phosphofurin acidic cluster sorting protein 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:735286 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies PMID:23159249|PMID:25326635|PMID:25356970|PMID:25522177|PMID:25533962|PMID:25741868|PMID:25741881|PMID:26795593|PMID:26842493|PMID:26944241|PMID:27681385|PMID:28111752|PMID:28135719|PMID:28471432|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28975623|PMID:29550517|PMID:30113927|PMID:30588754|PMID:30690871|PMID:32963807|PMID:34068396 12021375 LOC100990116 phosphofurin acidic cluster sorting protein 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:735286 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12021375 LOC100990116 phosphofurin acidic cluster sorting protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:735286 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:23159249|PMID:25326635|PMID:25356970|PMID:25522177|PMID:25533962|PMID:25741868|PMID:25741881|PMID:26795593|PMID:26842493|PMID:26944241|PMID:27681385|PMID:28111752|PMID:28135719|PMID:28471432|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28975623|PMID:29550517|PMID:30113927|PMID:30588754|PMID:30690871|PMID:32963807|PMID:34068396 12021375 LOC100990116 phosphofurin acidic cluster sorting protein 1 gene DOID:988 mitral valve prolapse ISO RGD:735286 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mitral valve prolapse PMID:23159249|PMID:25326635|PMID:25356970|PMID:25522177|PMID:25533962|PMID:25741868|PMID:25741881|PMID:26795593|PMID:26842493|PMID:26944241|PMID:27681385|PMID:28111752|PMID:28135719|PMID:28471432|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28975623|PMID:29550517|PMID:30113927|PMID:30588754|PMID:30690871|PMID:32963807|PMID:34068396 12021375 LOC100990116 phosphofurin acidic cluster sorting protein 1 gene DOID:9970 obesity ISO RGD:735286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23563609 12021402 CFAP100 cilia and flagella associated protein 100 gene DOID:630 genetic disease ISO RGD:1602811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021402 CFAP100 cilia and flagella associated protein 100 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1602811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 12021402 CFAP100 cilia and flagella associated protein 100 gene DOID:9270 alkaptonuria ISO RGD:1602811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12021429 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1351629 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12021429 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:0070004 myeloid neoplasm ISO RGD:1551869 D RGD:9068941 20200609 RGD PMID:12351651|REF_RGD_ID:1331842 12021429 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:12987 agranulocytosis ISO RGD:1351629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14617031 12021429 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:12987 agranulocytosis ISO RGD:1351629 D RGD:9068941 20200609 RGD associated with schizophrenia;DNA:SNPs:exons, intron:multiple PMID:14617031|REF_RGD_ID:11073696 12021429 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1351629 D RGD:9068941 20200609 RGD DNA:deletion:promoter: (human) PMID:18314446|REF_RGD_ID:11073691 12021429 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:1612 breast cancer susceptibility ISO RGD:1351629 D RGD:7240710 20230505 OMIM 12021429 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:2394 ovarian cancer ISO RGD:1351629 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 12021429 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:2773 contact dermatitis ISO RGD:1351629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12021429 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:3459 breast carcinoma disease_progression ISO RGD:1351629 D RGD:9068941 20200609 RGD DNA:SNP: :rs1143684 (human) PMID:21351093|REF_RGD_ID:11073689 12021429 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:4961 bone marrow disease ISO RGD:1351629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12351651 12021429 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:630 genetic disease ISO RGD:1351629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021429 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12021429 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:9002514 Neointima ISO RGD:1303320 D RGD:9068941 20200609 RGD PMID:22508052|REF_RGD_ID:11073699 12021429 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:9004237 Hyperoxic Lung Injury ISO RGD:10473 D RGD:9068941 20200609 RGD PMID:16678022|REF_RGD_ID:10769360 12021429 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:9008023 Memory Disorders ISO RGD:1351629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20861374 12021429 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1351629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12021450 BCL2 BCL2 apoptosis regulator gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 12021450 BCL2 BCL2 apoptosis regulator gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:733100 D RGD:9068941 20220825 RGD protein:increased expression:tongue (human) PMID:26581505|REF_RGD_ID:11535375 12021450 BCL2 BCL2 apoptosis regulator gene DOID:0050873 follicular lymphoma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12855623|PMID:3287162 12021450 BCL2 BCL2 apoptosis regulator gene DOID:0050873 follicular lymphoma ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:3287162|REF_RGD_ID:734639 12021450 BCL2 BCL2 apoptosis regulator gene DOID:0050873 follicular lymphoma susceptibility ISO RGD:733100 D RGD:9068941 20200609 RGD DNA:translocation: ;t(14;18)(q32;q21) PMID:16671111|REF_RGD_ID:1599473 12021450 BCL2 BCL2 apoptosis regulator gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26239085|PMID:3287162 12021450 BCL2 BCL2 apoptosis regulator gene DOID:0060074 ductal carcinoma in situ disease_progression ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:12628841|REF_RGD_ID:2289659 12021450 BCL2 BCL2 apoptosis regulator gene DOID:0060108 brain glioma treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:27255231|PMID:29324390|REF_RGD_ID:13792502|REF_RGD_ID:13792598 12021450 BCL2 BCL2 apoptosis regulator gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:733100 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12021450 BCL2 BCL2 apoptosis regulator gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:733100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 12021450 BCL2 BCL2 apoptosis regulator gene DOID:0111142 oligomeganephronia ISO RGD:10230 D RGD:9068941 20220825 MouseDO 12021450 BCL2 BCL2 apoptosis regulator gene DOID:10283 prostate cancer ISO RGD:733100 D RGD:9068941 20201023 RGD PMID:16984224|PMID:18084610|REF_RGD_ID:2292512|REF_RGD_ID:2293015 12021450 BCL2 BCL2 apoptosis regulator gene DOID:10283 prostate cancer disease_progression ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:17850375|REF_RGD_ID:2293017 12021450 BCL2 BCL2 apoptosis regulator gene DOID:10534 stomach cancer treatment ISO RGD:733100 D RGD:9068941 20210611 RGD human cells in mouse model PMID:29408335|REF_RGD_ID:127284846 12021450 BCL2 BCL2 apoptosis regulator gene DOID:10652 Alzheimer's disease ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:16265626|PMID:17639989|REF_RGD_ID:10054047|REF_RGD_ID:2293073 12021450 BCL2 BCL2 apoptosis regulator gene DOID:10652 Alzheimer's disease ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18077176 12021450 BCL2 BCL2 apoptosis regulator gene DOID:10652 Alzheimer's disease ISO RGD:733100 D RGD:9068941 20200609 RGD protein:increased expression:temporal cortex, membrane PMID:9507158|REF_RGD_ID:10053642 12021450 BCL2 BCL2 apoptosis regulator gene DOID:10652 Alzheimer's disease treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:21585051|PMID:26897372|PMID:29587274|PMID:29777699|REF_RGD_ID:10054049|REF_RGD_ID:11522767|REF_RGD_ID:13782186|REF_RGD_ID:13782188 12021450 BCL2 BCL2 apoptosis regulator gene DOID:10763 hypertension ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10075388 12021450 BCL2 BCL2 apoptosis regulator gene DOID:10763 hypertension treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:20065158|REF_RGD_ID:10053702 12021450 BCL2 BCL2 apoptosis regulator gene DOID:10808 gastric ulcer treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:24378970|REF_RGD_ID:10053695 12021450 BCL2 BCL2 apoptosis regulator gene DOID:10941 intracranial aneurysm treatment ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:25316629|REF_RGD_ID:11522723 12021450 BCL2 BCL2 apoptosis regulator gene DOID:11054 urinary bladder cancer ISO RGD:733100 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:18094410|REF_RGD_ID:2293014 12021450 BCL2 BCL2 apoptosis regulator gene DOID:11054 urinary bladder cancer ISO RGD:733100 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36115647 12021450 BCL2 BCL2 apoptosis regulator gene DOID:11054 urinary bladder cancer severity ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:18342927|REF_RGD_ID:2292910 12021450 BCL2 BCL2 apoptosis regulator gene DOID:11476 osteoporosis treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:22648569|REF_RGD_ID:10054093 12021450 BCL2 BCL2 apoptosis regulator gene DOID:11612 polycystic ovary syndrome ISO RGD:2199 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:21062263|REF_RGD_ID:10054496 12021450 BCL2 BCL2 apoptosis regulator gene DOID:11612 polycystic ovary syndrome ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21062263 12021450 BCL2 BCL2 apoptosis regulator gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:2199 D RGD:9068941 20200609 RGD protein:decreased expression:cardiomyocyte PMID:25820375|REF_RGD_ID:13792650 12021450 BCL2 BCL2 apoptosis regulator gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:733100 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:25209900|REF_RGD_ID:11558015 12021450 BCL2 BCL2 apoptosis regulator gene DOID:12336 male infertility ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24723216 12021450 BCL2 BCL2 apoptosis regulator gene DOID:127 leiomyoma ISO RGD:733100 D RGD:9068941 20200609 RGD protein:increased expression:myometrium PMID:16962107|REF_RGD_ID:1643479 12021450 BCL2 BCL2 apoptosis regulator gene DOID:127 leiomyoma treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:23789224|REF_RGD_ID:10054112 12021450 BCL2 BCL2 apoptosis regulator gene DOID:12849 autistic disorder ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11814262|PMID:20375269 12021450 BCL2 BCL2 apoptosis regulator gene DOID:12858 Huntington's disease ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:11299004|REF_RGD_ID:10054041 12021450 BCL2 BCL2 apoptosis regulator gene DOID:12930 dilated cardiomyopathy ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:26004897|REF_RGD_ID:13782348 12021450 BCL2 BCL2 apoptosis regulator gene DOID:1307 dementia treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:21473886|REF_RGD_ID:10054040 12021450 BCL2 BCL2 apoptosis regulator gene DOID:14018 alcoholic liver cirrhosis ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 12021450 BCL2 BCL2 apoptosis regulator gene DOID:14221 abdominal obesity-metabolic syndrome 1 treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:27131981|REF_RGD_ID:13792503 12021450 BCL2 BCL2 apoptosis regulator gene DOID:14227 azoospermia ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20610805 12021450 BCL2 BCL2 apoptosis regulator gene DOID:1686 glaucoma ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA:decreased expression:optic nerve, retina PMID:24357921|REF_RGD_ID:10054098 12021450 BCL2 BCL2 apoptosis regulator gene DOID:1749 squamous cell carcinoma disease_progression ISO RGD:2199 D RGD:9068941 20200609 RGD Protein:increased expression:tongue;associated with mouth neoplasms PMID:16309543|REF_RGD_ID:1599477 12021450 BCL2 BCL2 apoptosis regulator gene DOID:1790 malignant mesothelioma ISO RGD:733100 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:16850164 12021450 BCL2 BCL2 apoptosis regulator gene DOID:1824 status epilepticus ISO RGD:2199 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:18076646|REF_RGD_ID:2293065 12021450 BCL2 BCL2 apoptosis regulator gene DOID:1824 status epilepticus treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:22842798|REF_RGD_ID:11522734 12021450 BCL2 BCL2 apoptosis regulator gene DOID:1875 impotence ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:12394778|REF_RGD_ID:1579980 12021450 BCL2 BCL2 apoptosis regulator gene DOID:1875 impotence ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12394778 12021450 BCL2 BCL2 apoptosis regulator gene DOID:1875 impotence treatment ISO RGD:2199 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21235725|REF_RGD_ID:10053666 12021450 BCL2 BCL2 apoptosis regulator gene DOID:1909 melanoma severity ISO RGD:733100 D RGD:9068941 20200609 RGD protein:increased expression:lymph node (human) PMID:8783649|REF_RGD_ID:11526106 12021450 BCL2 BCL2 apoptosis regulator gene DOID:2055 post-traumatic stress disorder ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:23381833|REF_RGD_ID:10054113 12021450 BCL2 BCL2 apoptosis regulator gene DOID:219 colon cancer treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:21214291|REF_RGD_ID:10053668 12021450 BCL2 BCL2 apoptosis regulator gene DOID:224 transient cerebral ischemia ISO RGD:2199 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:18083315|REF_RGD_ID:2290557 12021450 BCL2 BCL2 apoptosis regulator gene DOID:224 transient cerebral ischemia treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:16732092|PMID:22509406|REF_RGD_ID:11522725|REF_RGD_ID:11561910 12021450 BCL2 BCL2 apoptosis regulator gene DOID:2256 osteochondrodysplasia ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17954590 12021450 BCL2 BCL2 apoptosis regulator gene DOID:2316 brain ischemia treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:15585409|REF_RGD_ID:11522731 12021450 BCL2 BCL2 apoptosis regulator gene DOID:234 colon adenocarcinoma treatment ISO RGD:733100 D RGD:9068941 20210528 RGD human cells in mouse model PMID:32504672|REF_RGD_ID:125097526 12021450 BCL2 BCL2 apoptosis regulator gene DOID:2560 morphine dependence treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:24906198|REF_RGD_ID:10054248 12021450 BCL2 BCL2 apoptosis regulator gene DOID:2671 transitional cell carcinoma ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:18047955|REF_RGD_ID:1643477 12021450 BCL2 BCL2 apoptosis regulator gene DOID:2741 bilirubin metabolic disorder ISO RGD:2199 D RGD:9068941 20200609 RGD protein:decreased expression:platelet (rat) PMID:26459859|REF_RGD_ID:11522763 12021450 BCL2 BCL2 apoptosis regulator gene DOID:2773 contact dermatitis ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12021450 BCL2 BCL2 apoptosis regulator gene DOID:2841 asthma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18357729 12021450 BCL2 BCL2 apoptosis regulator gene DOID:289 endometriosis ISO RGD:733100 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:17693084|REF_RGD_ID:2293018 12021450 BCL2 BCL2 apoptosis regulator gene DOID:289 endometriosis treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:23406865|PMID:25937801|REF_RGD_ID:11353846|REF_RGD_ID:7257718 12021450 BCL2 BCL2 apoptosis regulator gene DOID:299 adenocarcinoma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 12021450 BCL2 BCL2 apoptosis regulator gene DOID:3021 acute kidney failure ISO RGD:2199 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:20037173|REF_RGD_ID:10053672 12021450 BCL2 BCL2 apoptosis regulator gene DOID:3042 allergic contact dermatitis ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 12021450 BCL2 BCL2 apoptosis regulator gene DOID:305 carcinoma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10426811 12021450 BCL2 BCL2 apoptosis regulator gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:10230 D RGD:9068941 20200609 RGD PMID:10582606|REF_RGD_ID:13506907 12021450 BCL2 BCL2 apoptosis regulator gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:23143152|REF_RGD_ID:10054501 12021450 BCL2 BCL2 apoptosis regulator gene DOID:3721 plasmacytoma susceptibility ISO RGD:733100 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:14695177|REF_RGD_ID:11526108 12021450 BCL2 BCL2 apoptosis regulator gene DOID:4450 renal cell carcinoma ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:18283311|REF_RGD_ID:2298896 12021450 BCL2 BCL2 apoptosis regulator gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:17482919|REF_RGD_ID:2293019 12021450 BCL2 BCL2 apoptosis regulator gene DOID:4468 clear cell adenocarcinoma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9754764 12021450 BCL2 BCL2 apoptosis regulator gene DOID:4481 allergic rhinitis ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:nasal mucosa (rat) PMID:15362690|REF_RGD_ID:11522724 12021450 BCL2 BCL2 apoptosis regulator gene DOID:4545 mesenchymal chondrosarcoma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12817616 12021450 BCL2 BCL2 apoptosis regulator gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:12234300|REF_RGD_ID:1579984 12021450 BCL2 BCL2 apoptosis regulator gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:733100 D RGD:9068941 20210521 RGD DNA:SNPs:3'utr: (rs720321, rs17757541) (human) PMID:21472143|REF_RGD_ID:126925218 12021450 BCL2 BCL2 apoptosis regulator gene DOID:5295 intestinal disease treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:24228095|REF_RGD_ID:10058972 12021450 BCL2 BCL2 apoptosis regulator gene DOID:5409 lung small cell carcinoma susceptibility ISO RGD:733100 D RGD:9068941 20200609 RGD DNA:SNP: :rs2279115(human) PMID:26311051|REF_RGD_ID:13673911 12021450 BCL2 BCL2 apoptosis regulator gene DOID:5485 synovial sarcoma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16450387 12021450 BCL2 BCL2 apoptosis regulator gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23471820 12021450 BCL2 BCL2 apoptosis regulator gene DOID:5844 myocardial infarction ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19027736 12021450 BCL2 BCL2 apoptosis regulator gene DOID:6000 congestive heart failure treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:18097624|PMID:29746994|REF_RGD_ID:10054097|REF_RGD_ID:13792577 12021450 BCL2 BCL2 apoptosis regulator gene DOID:630 genetic disease ISO RGD:733100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021450 BCL2 BCL2 apoptosis regulator gene DOID:6432 pulmonary hypertension ISO RGD:2199 D RGD:9068941 20200609 RGD protein:decreased expression:heart right ventricle PMID:18441466|REF_RGD_ID:2293022 12021450 BCL2 BCL2 apoptosis regulator gene DOID:657 adenoma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10223192|PMID:10426811 12021450 BCL2 BCL2 apoptosis regulator gene DOID:684 hepatocellular carcinoma ISO RGD:10230 D RGD:9068941 20210702 RGD mRNA:increased expression:liver (mouse) PMID:28100771|REF_RGD_ID:127285675 12021450 BCL2 BCL2 apoptosis regulator gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2199 D RGD:9068941 20220714 RGD PMID:33841550|REF_RGD_ID:152998960 12021450 BCL2 BCL2 apoptosis regulator gene DOID:783 end stage renal disease treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:20424483|REF_RGD_ID:11522730 12021450 BCL2 BCL2 apoptosis regulator gene DOID:8398 osteoarthritis ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:19217321|REF_RGD_ID:10053643 12021450 BCL2 BCL2 apoptosis regulator gene DOID:8398 osteoarthritis ISO RGD:733100 D RGD:9068941 20200609 RGD protein:increased expression:chondrocyte PMID:16864079|REF_RGD_ID:10054095 12021450 BCL2 BCL2 apoptosis regulator gene DOID:8466 retinal degeneration ISO RGD:2199 D RGD:9068941 20200609 RGD protein:increased expression:retina (rat) PMID:24166353|REF_RGD_ID:11522757 12021450 BCL2 BCL2 apoptosis regulator gene DOID:8466 retinal degeneration ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8692941 12021450 BCL2 BCL2 apoptosis regulator gene DOID:8466 retinal degeneration treatment ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:10704489|REF_RGD_ID:8554863 12021450 BCL2 BCL2 apoptosis regulator gene DOID:8927 learning disability ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17967740 12021450 BCL2 BCL2 apoptosis regulator gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:733100 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:18561741|REF_RGD_ID:2298889 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9000011 Gallbladder Neoplasms ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16904648 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:27256506|REF_RGD_ID:13792677 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9000081 Lymphatic Metastasis ISO RGD:733100 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:increased expression:lymph node PMID:18217456|REF_RGD_ID:2293013 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9000099 Experimental Colitis treatment ISO RGD:2199 D RGD:9068941 20220623 RGD PMID:29572553|REF_RGD_ID:152995414 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9000117 Esophageal Neoplasms ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9000156 Metaplasia ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12704018 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9000288 Chronic Intermittent Hypoxia treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:26769958|REF_RGD_ID:13792505 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:26163325|REF_RGD_ID:13782347 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9000918 Disease Progression ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686|PMID:21750559 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9000965 Neoplasm Metastasis ISO RGD:733100 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:16826579|REF_RGD_ID:2293020 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9000965 Neoplasm Metastasis ISO RGD:733100 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell PMID:12810203|REF_RGD_ID:2293021 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9000998 Brain Injuries ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:18093155|REF_RGD_ID:2293059 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9000998 Brain Injuries treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:20888848|REF_RGD_ID:10054247 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9001390 Testis Reperfusion Injury ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:26754107|REF_RGD_ID:11555349 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:17938867|REF_RGD_ID:2293129 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:24218972|REF_RGD_ID:10054116 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10426811|PMID:28100771 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9001708 Hemorrhagic Shock ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA:increased expression:intestine PMID:17693937|REF_RGD_ID:2293072 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:25535961|REF_RGD_ID:11522737 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:21092002|REF_RGD_ID:5134995 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2199 D RGD:9068941 20200609 RGD associated with Non-alcoholic Fatty Liver Disease PMID:22847887|REF_RGD_ID:10053710 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21750559|PMID:23770605 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia no_association ISO RGD:733100 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-938C>A (human) PMID:17959858|REF_RGD_ID:11526105 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:733100 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-938C>A (human) PMID:16960146|REF_RGD_ID:11526104 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:733100 D RGD:9068941 20200609 RGD protein:increased expression:B cell (human) PMID:20001236|REF_RGD_ID:11526110 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia treatment ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:17296974|REF_RGD_ID:11522735 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:22932950|REF_RGD_ID:10054114 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9002245 Intestinal Neoplasms ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10223192 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9002283 Experimental Allergic Asthma treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:29713367|REF_RGD_ID:13792581 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9002304 Prostatic Neoplasms ISO RGD:10230 D RGD:9068941 20200609 RGD PMID:18317887|REF_RGD_ID:2291908 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9002304 Prostatic Neoplasms ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16733517 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9002331 Knee Osteoarthritis treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:20131282|REF_RGD_ID:6907382 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9002395 Hypothermia ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland ventral lobe (rat) PMID:25996932|REF_RGD_ID:10402397 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9002457 Experimental Arthritis ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:21199477|REF_RGD_ID:10054249 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:22978269|REF_RGD_ID:10054498 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9002644 Premature Aging treatment ISO RGD:10230 D RGD:9068941 20200609 RGD PMID:21359432|REF_RGD_ID:6480478 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9002676 Cerebral Hemorrhage ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12721362 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9002762 Ovarian Neoplasms severity ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:18006758|REF_RGD_ID:2298897 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9002928 Colonic Neoplasms ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:17404573|REF_RGD_ID:2293078 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9002928 Colonic Neoplasms ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10223192|PMID:17404573|PMID:19147571 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9002955 Nerve Degeneration ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11146106|PMID:17967740 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:2199 D RGD:9068941 20230128 RGD PMID:21189961|PMID:24089674|PMID:29635023|REF_RGD_ID:10054502|REF_RGD_ID:13782292|REF_RGD_ID:155882465 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9004009 Reperfusion Injury ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15449323 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9004038 Kashin-Beck Disease ISO RGD:733100 D RGD:9068941 20200609 RGD protein:increased expression:articular cartilage, chondrocyte PMID:16511931|REF_RGD_ID:10054094 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9004610 Acute Lung Injury ISO RGD:2199 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:20663300|REF_RGD_ID:10054109 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9005181 Multi-Infarct Dementia treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:18938189|REF_RGD_ID:10054050 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:22668016|PMID:23404339|REF_RGD_ID:10053670|REF_RGD_ID:10054128 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9005539 Familial Prostate Cancer ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9005562 AIDS-Related Kaposi Sarcoma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10861090 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA:decreased expression:embryo PMID:15649569|REF_RGD_ID:1599491 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2199 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:18991018|REF_RGD_ID:2311240 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16959961|PMID:23090186 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9005749 Necrosis ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11781163|PMID:16532269 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9005873 Tongue Neoplasms ISO RGD:2199 D RGD:9068941 20200609 RGD protein:increased expression:tongue: PMID:12167434|REF_RGD_ID:8547871 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9005930 Endotoxemia ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA:decreased expression:diaphragm PMID:23940949|REF_RGD_ID:10054120 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9006169 Head and Neck Neoplasms ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18566236 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:18221257|REF_RGD_ID:2293026 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:29285062|REF_RGD_ID:13792599 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:23953793|REF_RGD_ID:10054119 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:733100 D RGD:9068941 20201218 RGD protein:increased expression:natural killer cell, T cell (human) PMID:26541527|REF_RGD_ID:40902860 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:10230 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased phosphorylation:myocardium (mouse) PMID:21474815|REF_RGD_ID:11522727 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:2199 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21296063|REF_RGD_ID:10053697 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:22014268|REF_RGD_ID:10054500 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:10230 D RGD:9068941 20230406 RGD associated with myocardial infarction PMID:25726944|REF_RGD_ID:11252030 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9007429 Soft Tissue Neoplasms ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16450387 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22666341|PMID:2543982|PMID:2848196 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9007715 Endometrial Neoplasms severity ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:18386458|REF_RGD_ID:2298890 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9007730 Burns treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:22153006|REF_RGD_ID:10054126 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:16289365|REF_RGD_ID:1599484 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2199 D RGD:9068941 20220923 RGD PMID:20821058|PMID:23364609|PMID:31583047|REF_RGD_ID:10053674|REF_RGD_ID:11561911|REF_RGD_ID:155230831 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9008023 Memory Disorders ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17967740 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9008091 Optic Nerve Injuries ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA:decreased expression:optic nerve, retina PMID:24357921|REF_RGD_ID:10054098 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9008443 Colorectal Neoplasms ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18949393 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9008622 Adrenal Insufficiency ISO RGD:2199 D RGD:9068941 20200609 RGD associated with Pancreatitis, Acute Necrotizing;protein:decreased expression:adrenal cortex PMID:21161352|REF_RGD_ID:6482719 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9008824 Sarcopenia ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA:decreased expression:plantaris PMID:17029665|REF_RGD_ID:2325745 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9008939 Breast Neoplasms ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12517783|PMID:16954440|PMID:23621182 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9008939 Breast Neoplasms ISO RGD:733100 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections;protein:increased expression:breast PMID:18427947|REF_RGD_ID:2292909 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:733100 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-938C>A PMID:17908970|REF_RGD_ID:2293016 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:733100 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:18430249|REF_RGD_ID:2292908 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9119 acute myeloid leukemia ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23906301 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9119 acute myeloid leukemia severity ISO RGD:733100 D RGD:9068941 20200609 RGD DNA:snp:exon:c.+21A>G (rs1801018) (human) PMID:19520430|REF_RGD_ID:11526111 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9119 acute myeloid leukemia severity ISO RGD:733100 D RGD:9068941 20200609 RGD ratio with Flt3, Kit;mRNA:decreased expression:mononuclear cell (human) PMID:25216797|REF_RGD_ID:11526109 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:733100 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-938C>A (human) PMID:25957891|REF_RGD_ID:11526107 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:733100 D RGD:9068941 20200609 RGD protein:increased expression:epithelium of nasopharynx (human) PMID:12099337|REF_RGD_ID:11526103 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9286 priapism ISO RGD:2199 D RGD:9068941 20200609 RGD protein:increased expression:erectile tissue (rat) PMID:21085184|REF_RGD_ID:10412315 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:23032698|REF_RGD_ID:10053698 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16959961|PMID:31626838 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9538 multiple myeloma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12429644 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9655 oral mucosa leukoplakia ISO RGD:2199 D RGD:9068941 20200609 RGD protein:increased expression:tongue: PMID:12167434|REF_RGD_ID:8547871 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9952 acute lymphoblastic leukemia severity ISO RGD:733100 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow (human) PMID:25982455|REF_RGD_ID:11076595 12021450 BCL2 BCL2 apoptosis regulator gene DOID:9970 obesity ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart left ventricle PMID:18202171|REF_RGD_ID:2293027 12021458 LOC100994750 olfactory receptor 8D2 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1354280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12021458 LOC100994750 olfactory receptor 8D2 gene DOID:5419 schizophrenia ISO RGD:1354280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12021458 LOC100994750 olfactory receptor 8D2 gene DOID:630 genetic disease ISO RGD:1354280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021458 LOC100994750 olfactory receptor 8D2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1354280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12021458 LOC100994750 olfactory receptor 8D2 gene DOID:9007661 Dwarfism ISO RGD:1354280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12021463 RPL6 ribosomal protein L6 gene DOID:0060578 Noonan syndrome 1 ISO RGD:733694 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 12021463 RPL6 ribosomal protein L6 gene DOID:0080548 Noonan syndrome with multiple lentigines 1 ISO RGD:733694 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 1 12021463 RPL6 ribosomal protein L6 gene DOID:0080690 RASopathy ISO RGD:733694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12021463 RPL6 ribosomal protein L6 gene DOID:0111512 metachondromatosis ISO RGD:733694 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Metachondromatosis 12021463 RPL6 ribosomal protein L6 gene DOID:14330 Parkinson's disease ISO RGD:733694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18353766 12021463 RPL6 ribosomal protein L6 gene DOID:305 carcinoma ISO RGD:733694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12021463 RPL6 ribosomal protein L6 gene DOID:630 genetic disease ISO RGD:733694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021463 RPL6 ribosomal protein L6 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12021463 RPL6 ribosomal protein L6 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12021489 F12 coagulation factor XII gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1345372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12021489 F12 coagulation factor XII gene DOID:0060903 thrombosis ISO RGD:1345372 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thrombus PMID:25741868 12021489 F12 coagulation factor XII gene DOID:0080077 hypophosphatemic nephrolithiasis/osteoporosis 1 ISO RGD:1345372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 PMID:25050900|PMID:25741868|PMID:28492532|PMID:30943683 12021489 F12 coagulation factor XII gene DOID:0080655 hypophosphatemic nephrolithiasis/osteoporosis ISO RGD:1345372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic PMID:17576681|PMID:21920016|PMID:23348723|PMID:24029428|PMID:24033266|PMID:25050900|PMID:25524745|PMID:25741868|PMID:28492532|PMID:30943683|PMID:8528215|PMID:9354665|PMID:9536098 12021489 F12 coagulation factor XII gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1345372 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12021489 F12 coagulation factor XII gene DOID:0080940 hereditary angioedema type III ISO RGD:1345372 D RGD:7240710 20180130 OMIM 12021489 F12 coagulation factor XII gene DOID:0080940 hereditary angioedema type III ISO RGD:1345372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ESTROGEN-RELATED HAE | ClinVar Annotator: match by term: ESTROGEN-SENSITIVE HAE | ClinVar Annotator: match by term: Hereditary angioedema, type III PMID:10361128|PMID:10984376|PMID:11843842|PMID:16638441|PMID:17186468|PMID:17825897|PMID:18974842|PMID:19178938|PMID:19474702|PMID:19786295|PMID:19933701|PMID:20303064|PMID:20490261|PMID:21690105|PMID:22920075|PMID:23188048|PMID:24033266|PMID:25741868|PMID:25744496|PMID:25790805|PMID:26286125|PMID:27130860|PMID:28492532|PMID:9490684 12021489 F12 coagulation factor XII gene DOID:0080941 acquired angioedema disease_progression ISO RGD:1345372 D RGD:9068941 20200609 RGD PMID:9129025|REF_RGD_ID:11565081 12021489 F12 coagulation factor XII gene DOID:0112103 Sotos syndrome 1 ISO RGD:1345372 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 12021489 F12 coagulation factor XII gene DOID:10763 hypertension ISO RGD:1345372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertension PMID:16638441|PMID:25741868 12021489 F12 coagulation factor XII gene DOID:14735 hereditary angioedema ISO RGD:1345372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary angioneurotic edema PMID:10984376|PMID:16638441|PMID:17186468|PMID:17825897|PMID:19178938|PMID:19474702|PMID:20490261|PMID:22920075|PMID:24033266|PMID:25050900|PMID:25741868|PMID:25744496|PMID:25790805|PMID:27130860|PMID:28492532|PMID:30943683 12021489 F12 coagulation factor XII gene DOID:14735 hereditary angioedema disease_progression ISO RGD:1345372 D RGD:9068941 20200609 RGD PMID:9129025|REF_RGD_ID:11565081 12021489 F12 coagulation factor XII gene DOID:1555 urticaria ISO RGD:1345372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Urticaria PMID:16638441|PMID:25741868 12021489 F12 coagulation factor XII gene DOID:1558 angioedema ISO RGD:1345372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angioedema PMID:16638441|PMID:25741868 12021489 F12 coagulation factor XII gene DOID:2231 factor XII deficiency ISO RGD:1345372 D RGD:7240710 20180130 OMIM 12021489 F12 coagulation factor XII gene DOID:2231 factor XII deficiency ISO RGD:1345372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar Annotator: match by term: Factor XII deficiency disease PMID:10361128|PMID:10984376|PMID:11843842|PMID:16638441|PMID:17186468|PMID:17576681|PMID:17825897|PMID:18974842|PMID:19178938|PMID:19474702|PMID:19786295|PMID:19933701|PMID:20303064|PMID:20490261|PMID:21264442|PMID:21690105|PMID:21920016|PMID:22920075|PMID:23188048|PMID:23348723|PMID:24029428|PMID:24033266|PMID:25050900|PMID:25524745|PMID:25741868|PMID:25744496|PMID:25790805|PMID:26286125|PMID:27130860|PMID:28492532|PMID:30943683|PMID:8528215|PMID:9354665|PMID:9490684|PMID:9536098 12021489 F12 coagulation factor XII gene DOID:224 transient cerebral ischemia ISO RGD:1552499 D RGD:9068941 20200609 RGD PMID:16533887|REF_RGD_ID:11041786 12021489 F12 coagulation factor XII gene DOID:224 transient cerebral ischemia treatment ISO RGD:1345372 D RGD:9068941 20200609 RGD PMID:16533887|REF_RGD_ID:11041786 12021489 F12 coagulation factor XII gene DOID:2741 bilirubin metabolic disorder ISO RGD:1345372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperbilirubinemia PMID:16638441|PMID:25741868 12021489 F12 coagulation factor XII gene DOID:3525 middle cerebral artery infarction ISO RGD:1552499 D RGD:9068941 20200609 RGD PMID:16533887|REF_RGD_ID:11041786 12021489 F12 coagulation factor XII gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1345372 D RGD:9068941 20200609 RGD PMID:16533887|REF_RGD_ID:11041786 12021489 F12 coagulation factor XII gene DOID:5844 myocardial infarction susceptibility ISO RGD:1345372 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-46C>T(human) PMID:16411408|REF_RGD_ID:11041803 12021489 F12 coagulation factor XII gene DOID:630 genetic disease ISO RGD:1345372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12021489 F12 coagulation factor XII gene DOID:9000528 Coronary Disease ISO RGD:1345372 D RGD:9068941 20200609 RGD protein:decreased activity:: PMID:18021303|REF_RGD_ID:11041785 12021489 F12 coagulation factor XII gene DOID:9000543 Death ISO RGD:1345372 D RGD:9068941 20200609 RGD PMID:17388965|REF_RGD_ID:11041782 12021489 F12 coagulation factor XII gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1345372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 12021489 F12 coagulation factor XII gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1345372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FACTOR XII POLYMORPHISM PMID:11843842|PMID:20303064|PMID:24033266|PMID:25741868|PMID:9490684 12021489 F12 coagulation factor XII gene DOID:9003121 Thromboembolism ISO RGD:1345372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16009717 12021489 F12 coagulation factor XII gene DOID:9003121 Thromboembolism ISO RGD:1345372 D RGD:9068941 20200609 RGD PMID:16009717|REF_RGD_ID:11041771 12021489 F12 coagulation factor XII gene DOID:9003121 Thromboembolism ISO RGD:1552499 D RGD:9068941 20200609 RGD PMID:16009717|REF_RGD_ID:11041771 12021489 F12 coagulation factor XII gene DOID:9003281 Spontaneous Abortions ISO RGD:1345372 D RGD:9068941 20200609 RGD protein:decreased activity: : PMID:24597288|REF_RGD_ID:11041799 12021489 F12 coagulation factor XII gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:1345372 D RGD:9068941 20200609 RGD DNA:polymorphism::46C>T(human) PMID:15116249|REF_RGD_ID:11041808 12021489 F12 coagulation factor XII gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:1345372 D RGD:9068941 20200609 RGD associated with Pregnancy Complications; DNA:polymorphism::46C>T(human) PMID:20141580|REF_RGD_ID:11041858 12021489 F12 coagulation factor XII gene DOID:9005930 Endotoxemia ISO RGD:1359175 D RGD:9068941 20200609 RGD PMID:11092686|REF_RGD_ID:7394782 12021489 F12 coagulation factor XII gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1345372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12021489 F12 coagulation factor XII gene DOID:9007096 Stroke susceptibility ISO RGD:1345372 D RGD:9068941 20200609 RGD DNA:polymorphism::46C>T(human) PMID:15232129|REF_RGD_ID:11041862 12021489 F12 coagulation factor XII gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:1359175 D RGD:9068941 20200609 RGD PMID:16046705|REF_RGD_ID:1601105 12021489 F12 coagulation factor XII gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345372 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:7974333|REF_RGD_ID:2312416 12021507 PPP4C protein phosphatase 4 catalytic subunit gene DOID:0060019 coronin-1A deficiency ISO RGD:1352781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:28492532 12021507 PPP4C protein phosphatase 4 catalytic subunit gene DOID:0060041 autism spectrum disorder ISO RGD:1352781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12021507 PPP4C protein phosphatase 4 catalytic subunit gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1352781 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 12021507 PPP4C protein phosphatase 4 catalytic subunit gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1352781 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 12021507 PPP4C protein phosphatase 4 catalytic subunit gene DOID:0070311 oligoasthenoteratozoospermia ISO RGD:1551024 D RGD:9068941 20220825 MouseDO 12021507 PPP4C protein phosphatase 4 catalytic subunit gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1352781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12021507 PPP4C protein phosphatase 4 catalytic subunit gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1352781 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 12021507 PPP4C protein phosphatase 4 catalytic subunit gene DOID:12849 autistic disorder ISO RGD:1352781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12021507 PPP4C protein phosphatase 4 catalytic subunit gene DOID:1882 atrial heart septal defect ISO RGD:1352781 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12021507 PPP4C protein phosphatase 4 catalytic subunit gene DOID:5419 schizophrenia ISO RGD:1352781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12021507 PPP4C protein phosphatase 4 catalytic subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12021507 PPP4C protein phosphatase 4 catalytic subunit gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1352781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12021507 PPP4C protein phosphatase 4 catalytic subunit gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1352781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 12021528 KCNK13 potassium two pore domain channel subfamily K member 13 gene DOID:0080054 achondrogenesis type IA ISO RGD:68985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12021528 KCNK13 potassium two pore domain channel subfamily K member 13 gene DOID:0080600 COVID-19 ISO RGD:68985 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12021528 KCNK13 potassium two pore domain channel subfamily K member 13 gene DOID:630 genetic disease ISO RGD:68985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021534 TMPPE transmembrane protein with metallophosphoesterase domain gene DOID:0080489 GM1 gangliosidosis type 3 ISO RGD:2304158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GM1 gangliosidosis type 3 PMID:16941474|PMID:17576681|PMID:21497194|PMID:25741868|PMID:28492532|PMID:29160035|PMID:8198123|PMID:8199591|PMID:9536098 12021534 TMPPE transmembrane protein with metallophosphoesterase domain gene DOID:0080501 GM1 gangliosidosis type 2 ISO RGD:2304158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GM1 gangliosidosis type 2 PMID:16199547|PMID:16941474|PMID:18524657|PMID:25741868|PMID:28492532 12021534 TMPPE transmembrane protein with metallophosphoesterase domain gene DOID:0080502 GM1 gangliosidosis type 1 ISO RGD:2304158 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Infantile GM1 gangliosidosis PMID:16199547|PMID:16941474|PMID:17576681|PMID:18524657|PMID:21497194|PMID:25741868|PMID:28492532|PMID:29160035|PMID:8198123|PMID:8199591|PMID:9536098 12021534 TMPPE transmembrane protein with metallophosphoesterase domain gene DOID:0110337 osteogenesis imperfecta type 7 ISO RGD:2304158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 PMID:28492532 12021534 TMPPE transmembrane protein with metallophosphoesterase domain gene DOID:0111392 mucopolysaccharidosis type IVB ISO RGD:2304158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-B PMID:16199547|PMID:16941474|PMID:17576681|PMID:18524657|PMID:21497194|PMID:23757202|PMID:25741868|PMID:26646981|PMID:28492532|PMID:29160035|PMID:33558080|PMID:8198123|PMID:8199591|PMID:9536098 12021534 TMPPE transmembrane protein with metallophosphoesterase domain gene DOID:12804 mucopolysaccharidosis IV ISO RGD:2304158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Morquio syndrome 12021534 TMPPE transmembrane protein with metallophosphoesterase domain gene DOID:3322 GM1 gangliosidosis ISO RGD:2304158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GM1 gangliosidosis PMID:16941474|PMID:25741868|PMID:28492532 12021534 TMPPE transmembrane protein with metallophosphoesterase domain gene DOID:630 genetic disease ISO RGD:2304158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12021555 ZFP3 ZFP3 zinc finger protein gene DOID:630 genetic disease ISO RGD:1346211 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021567 CTXND1 cortexin domain containing 1 gene DOID:11372 megacolon ISO RGD:8655729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12021590 APOD apolipoprotein D gene DOID:10652 Alzheimer's disease ISO RGD:737460 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid, hippocampus PMID:9751198|REF_RGD_ID:2311209 12021590 APOD apolipoprotein D gene DOID:11714 gestational diabetes ISO RGD:737460 D RGD:9068941 20200609 RGD PMID:6828336|REF_RGD_ID:2311180 12021590 APOD apolipoprotein D gene DOID:1289 neurodegenerative disease ISO RGD:737460 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18458334 12021590 APOD apolipoprotein D gene DOID:1824 status epilepticus ISO RGD:2137 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:10372566|REF_RGD_ID:2311203 12021590 APOD apolipoprotein D gene DOID:3070 high grade glioma ISO RGD:737460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16865689 12021590 APOD apolipoprotein D gene DOID:4762 vasculogenic impotence ISO RGD:2137 D RGD:9068941 20200609 RGD mRNA:increased expression:penis erectile tissue PMID:11444882|REF_RGD_ID:2311196 12021590 APOD apolipoprotein D gene DOID:630 genetic disease ISO RGD:737460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021590 APOD apolipoprotein D gene DOID:8927 learning disability ISO RGD:737460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18419796 12021590 APOD apolipoprotein D gene DOID:9000831 Hypokinesia ISO RGD:737460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21688324 12021590 APOD apolipoprotein D gene DOID:9000998 Brain Injuries ISO RGD:2137 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex, glia cell, neuron PMID:10501208|REF_RGD_ID:2311202 12021590 APOD apolipoprotein D gene DOID:9007096 Stroke ISO RGD:2137 D RGD:9068941 20200609 RGD PMID:17851453|REF_RGD_ID:2311182 12021590 APOD apolipoprotein D gene DOID:9352 type 2 diabetes mellitus ISO RGD:737460 D RGD:9068941 20200609 RGD PMID:15369805|REF_RGD_ID:2311177 12021590 APOD apolipoprotein D gene DOID:9352 type 2 diabetes mellitus ISO RGD:737460 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:7895459|REF_RGD_ID:2311178 12021590 APOD apolipoprotein D gene DOID:9970 obesity ISO RGD:737460 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:7913935|REF_RGD_ID:2311179 12021599 DDX1 DEAD-box helicase 1 gene DOID:0080365 endometrial hyperplasia ISO RGD:737232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22248470 12021599 DDX1 DEAD-box helicase 1 gene DOID:13938 amenorrhea ISO RGD:737232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12021599 DDX1 DEAD-box helicase 1 gene DOID:303 substance-related disorder ISO RGD:737232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12021599 DDX1 DEAD-box helicase 1 gene DOID:5419 schizophrenia ISO RGD:737232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12021599 DDX1 DEAD-box helicase 1 gene DOID:5723 optic atrophy ISO RGD:737232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:32581362 12021599 DDX1 DEAD-box helicase 1 gene DOID:630 genetic disease ISO RGD:737232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021630 BAG5 BAG cochaperone 5 gene DOID:0081162 dilated cardiomyopathy 2F ISO RGD:1321985 D RGD:7240710 20220223 OMIM 12021630 BAG5 BAG cochaperone 5 gene DOID:0081162 dilated cardiomyopathy 2F ISO RGD:1321985 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2F PMID:35044787 12021630 BAG5 BAG cochaperone 5 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1321985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12021630 BAG5 BAG cochaperone 5 gene DOID:14330 Parkinson's disease ISO RGD:1321985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28348719 12021630 BAG5 BAG cochaperone 5 gene DOID:630 genetic disease ISO RGD:1321985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021630 BAG5 BAG cochaperone 5 gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1321985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 12021636 LMAN1 lectin, mannose binding 1 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:732234 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 12021636 LMAN1 lectin, mannose binding 1 gene DOID:0111988 immunodeficiency 12 ISO RGD:732234 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 12021636 LMAN1 lectin, mannose binding 1 gene DOID:2211 factor XIII deficiency ISO RGD:732234 D RGD:9068941 20200609 RGD F5F8D, OMIM:227300 PMID:9546392|REF_RGD_ID:1600100 12021636 LMAN1 lectin, mannose binding 1 gene DOID:2216 factor V deficiency ISO RGD:732234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor V deficiency PMID:25741868 12021636 LMAN1 lectin, mannose binding 1 gene DOID:630 genetic disease ISO RGD:732234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021636 LMAN1 lectin, mannose binding 1 gene DOID:9000717 Familial Multiple Coagulation Factor Deficiency I ISO RGD:732234 D RGD:7240710 20180130 OMIM 12021636 LMAN1 lectin, mannose binding 1 gene DOID:9000717 Familial Multiple Coagulation Factor Deficiency I ISO RGD:732234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FMFD I PMID:18391077|PMID:25741868|PMID:31064749|PMID:9045860|PMID:9546392 12021653 LOC100978148 olfactory receptor 51Q1 gene DOID:630 genetic disease ISO RGD:1343317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021663 ARMC10 armadillo repeat containing 10 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12021663 ARMC10 armadillo repeat containing 10 gene DOID:630 genetic disease ISO RGD:1605608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021678 MAP2 microtubule associated protein 2 gene DOID:10652 Alzheimer's disease ISO RGD:3044 D RGD:9068941 20200609 RGD PMID:22083255|REF_RGD_ID:6483322 12021678 MAP2 microtubule associated protein 2 gene DOID:11088 asphyxia neonatorum ISO RGD:3044 D RGD:9068941 20200609 RGD PMID:21858873|REF_RGD_ID:6483085 12021678 MAP2 microtubule associated protein 2 gene DOID:11294 arteriovenous malformation ISO RGD:3044 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:20873448|REF_RGD_ID:6483324 12021678 MAP2 microtubule associated protein 2 gene DOID:11446 sciatic neuropathy ISO RGD:3044 D RGD:9068941 20200609 RGD protein:decrease expression:dorsal root ganglion PMID:21933624|REF_RGD_ID:6483083 12021678 MAP2 microtubule associated protein 2 gene DOID:1206 Rett syndrome ISO RGD:733668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:25741868 12021678 MAP2 microtubule associated protein 2 gene DOID:12217 Lewy body dementia ISO RGD:733668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30236862 12021678 MAP2 microtubule associated protein 2 gene DOID:12217 Lewy body dementia ISO RGD:733668 D RGD:9068941 20200609 RGD PMID:20024519|REF_RGD_ID:6483091 12021678 MAP2 microtubule associated protein 2 gene DOID:12858 Huntington's disease ISO RGD:733668 D RGD:9068941 20200609 RGD PMID:20092829|REF_RGD_ID:6483090 12021678 MAP2 microtubule associated protein 2 gene DOID:14330 Parkinson's disease ISO RGD:733668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30236862 12021678 MAP2 microtubule associated protein 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:733668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12021678 MAP2 microtubule associated protein 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:733668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12021678 MAP2 microtubule associated protein 2 gene DOID:2316 brain ischemia ISO RGD:3044 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21948028|REF_RGD_ID:6483082 12021678 MAP2 microtubule associated protein 2 gene DOID:3328 temporal lobe epilepsy ISO RGD:3044 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:22265658|REF_RGD_ID:6483080 12021678 MAP2 microtubule associated protein 2 gene DOID:3526 cerebral infarction ISO RGD:3044 D RGD:9068941 20200609 RGD PMID:22444278|REF_RGD_ID:6483079 12021678 MAP2 microtubule associated protein 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:733669 D RGD:9068941 20200609 RGD PMID:19966940|REF_RGD_ID:6483319 12021678 MAP2 microtubule associated protein 2 gene DOID:5419 schizophrenia ISO RGD:733668 D RGD:9068941 20200609 RGD PMID:20092829|REF_RGD_ID:6483090 12021678 MAP2 microtubule associated protein 2 gene DOID:630 genetic disease ISO RGD:733668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021678 MAP2 microtubule associated protein 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:733668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12021678 MAP2 microtubule associated protein 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3044 D RGD:9068941 20200609 RGD PMID:21704982|REF_RGD_ID:6483323 12021678 MAP2 microtubule associated protein 2 gene DOID:9000998 Brain Injuries ISO RGD:3044 D RGD:9068941 20200609 RGD PMID:20568963|REF_RGD_ID:6483089 12021678 MAP2 microtubule associated protein 2 gene DOID:9000998 Brain Injuries ISO RGD:3044 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex, neuron PMID:21401443|REF_RGD_ID:6483087 12021678 MAP2 microtubule associated protein 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:733668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12021678 MAP2 microtubule associated protein 2 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:3044 D RGD:9068941 20200609 RGD PMID:21300124|REF_RGD_ID:6483088 12021678 MAP2 microtubule associated protein 2 gene DOID:9004009 Reperfusion Injury ISO RGD:3044 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21948028|REF_RGD_ID:6483082 12021678 MAP2 microtubule associated protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12021678 MAP2 microtubule associated protein 2 gene DOID:9005930 Endotoxemia ISO RGD:733669 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:neuron PMID:21421895|REF_RGD_ID:6483086 12021698 CRYZ crystallin zeta gene DOID:0060041 autism spectrum disorder ISO RGD:1323202 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12021698 CRYZ crystallin zeta gene DOID:630 genetic disease ISO RGD:1323202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:736367 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10545530|PMID:10545531|PMID:10720084|PMID:11022198|PMID:11270685|PMID:11315851|PMID:11772903|PMID:11914043|PMID:11978663|PMID:12618559|PMID:14764823|PMID:15001545|PMID:15170499|PMID:15277425|PMID:15754742|PMID:15883474|PMID:16092045|PMID:16741735|PMID:17126328|PMID:17592437|PMID:19228875|PMID:19496967|PMID:19515026|PMID:19817786|PMID:19855005|PMID:20621032|PMID:21569088|PMID:23331010|PMID:24097065|PMID:24464100|PMID:25041077|PMID:25741868|PMID:26058934|PMID:26287533|PMID:26467025|PMID:27386488|PMID:27535533|PMID:27879211|PMID:27884173|PMID:28095440|PMID:28436541|PMID:28492532|PMID:28609558|PMID:29396371|PMID:29439679|PMID:30709774|PMID:30930126|PMID:31366392|PMID:34988346|PMID:8506821|PMID:8988180|PMID:9326926|PMID:9649577 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:0050877 pancreatic agenesis ISO RGD:736367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pancreatic hypoplasia PMID:10720084|PMID:11270685|PMID:11772903|PMID:11978663|PMID:14764823|PMID:15001545|PMID:15883474|PMID:15885879|PMID:19228875|PMID:19817786|PMID:19855005|PMID:21569088|PMID:24033266|PMID:24097065|PMID:24464100|PMID:25741868|PMID:26059258|PMID:26287533|PMID:26467025|PMID:27386488|PMID:27420379|PMID:28436541|PMID:28492532|PMID:29396371|PMID:29439679|PMID:31366392|PMID:34988346 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:736367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:12970316|PMID:15001545|PMID:19496967|PMID:20009086|PMID:20621032|PMID:25741868|PMID:26467025|PMID:28436541|PMID:28492532|PMID:8506821|PMID:8988180|PMID:9326926|PMID:9649577 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:62387 D RGD:9068941 20200609 RGD protein:increased expression:epithelial cell of pancreas (rat) PMID:12210084|REF_RGD_ID:2311232 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:736367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10545530|PMID:10545531|PMID:10720084|PMID:11022198|PMID:11270685|PMID:11315851|PMID:11914043|PMID:12618559|PMID:14764823|PMID:15001545|PMID:15170499|PMID:15277425|PMID:15754742|PMID:16092045|PMID:16741735|PMID:17126328|PMID:17592437|PMID:19228875|PMID:19515026|PMID:21569088|PMID:24097065|PMID:25041077|PMID:25741868|PMID:26058934|PMID:26467025|PMID:27535533|PMID:27879211|PMID:27879214|PMID:27884173|PMID:28095440|PMID:28492532|PMID:28609558|PMID:29439679|PMID:30709774|PMID:30930126 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:0111103 maturity-onset diabetes of the young type 4 ISO RGD:736367 D RGD:7240710 20190315 OMIM 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:0111103 maturity-onset diabetes of the young type 4 ISO RGD:736367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 4 PMID:10545530|PMID:10545531|PMID:10720084|PMID:11022198|PMID:11270685|PMID:11315851|PMID:11772903|PMID:11914043|PMID:11978663|PMID:12618559|PMID:12970316|PMID:14764823|PMID:15001545|PMID:15170499|PMID:15277425|PMID:15754742|PMID:15883474|PMID:16092045|PMID:16741735|PMID:17126328|PMID:17592437|PMID:19228875|PMID:19496967|PMID:19515026|PMID:19817786|PMID:19855005|PMID:20009086|PMID:20621032|PMID:21569088|PMID:24033266|PMID:24097065|PMID:24464100|PMID:25041077|PMID:25741868|PMID:26058934|PMID:26059258|PMID:26287533|PMID:26467025|PMID:27386488|PMID:27420379|PMID:27535533|PMID:27879211|PMID:27879214|PMID:27884173|PMID:28095440|PMID:28436541|PMID:28492532|PMID:28609558|PMID:29396371|PMID:29439679|PMID:30709774|PMID:30930126|PMID:31366392|PMID:32041611|PMID:34135026|PMID:34988346|PMID:8506821|PMID:8988180|PMID:9326926|PMID:9649577 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:11716 prediabetes syndrome ISO RGD:736368 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:pancreas, pancreatic islet (mouse) PMID:17673521|REF_RGD_ID:2311230 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:11717 neonatal diabetes ISO RGD:736367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal diabetes mellitus PMID:25741868|PMID:28492532 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:1793 pancreatic cancer ISO RGD:736367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19077462|PMID:25086665|PMID:26098869 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:3526 cerebral infarction ISO RGD:736367 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome; DNA:duplication:5' utr:-108 3G>4G (human) PMID:18506375|REF_RGD_ID:2311309 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:3891 placental insufficiency ISO RGD:62387 D RGD:9068941 20200609 RGD mRNA:increased expression:placenta (rat) PMID:17893880|REF_RGD_ID:2311215 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:4195 hyperglycemia ISO RGD:62387 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; mRNA, protein:decreased expression:pancreatic islet (rat) PMID:10512364|REF_RGD_ID:2311207 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:4195 hyperglycemia ISO RGD:62387 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet (rat) PMID:12438314|REF_RGD_ID:1600277 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:4195 hyperglycemia ISO RGD:736367 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; (human) PMID:17131142|REF_RGD_ID:2308899 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:4195 hyperglycemia ISO RGD:736368 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; (mouse) PMID:16983179|REF_RGD_ID:2311206 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:4195 hyperglycemia ISO RGD:736368 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:stem cell (mouse) PMID:19245309|REF_RGD_ID:2311204 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9000156 Metaplasia ISO RGD:62387 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreatic acinus (rat) PMID:17003479|REF_RGD_ID:2311231 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:62387 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreas (rat) PMID:12606515|REF_RGD_ID:2311220 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:62387 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet PMID:18464933|REF_RGD_ID:2311214 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9003314 Pancreatic Agenesis 1 ISO RGD:736367 D RGD:7240710 20200226 OMIM 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9003314 Pancreatic Agenesis 1 ISO RGD:736367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PDX1-Related Disorder | ClinVar Annotator: match by term: Pancreatic agenesis 1 PMID:12970316|PMID:15001545|PMID:19496967|PMID:20009086|PMID:20301620|PMID:20621032|PMID:25741868|PMID:26467025|PMID:28436541|PMID:28492532|PMID:8506821|PMID:8988180|PMID:9326926|PMID:9649577 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:62387 D RGD:9068941 20200609 RGD PMID:17460716|REF_RGD_ID:2311224 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:62387 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (rat) PMID:17235568|REF_RGD_ID:2311225 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:62387 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic delta cell (rat) PMID:14988244|REF_RGD_ID:1357906 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736367 D RGD:9068941 20200609 RGD PMID:17226789|REF_RGD_ID:2311311 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736368 D RGD:9068941 20200609 RGD PMID:15561947|REF_RGD_ID:2311226 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9007692 Insulin Resistance ISO RGD:62387 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic duct (rat) PMID:16046294|REF_RGD_ID:2311223 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9007692 Insulin Resistance ISO RGD:736368 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:pancreatic islet (mouse) PMID:18288891|REF_RGD_ID:2311222 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9351 diabetes mellitus ISO RGD:736367 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10545530|PMID:10545531|PMID:10720084|PMID:11022198|PMID:11270685|PMID:11315851|PMID:11772903|PMID:11914043|PMID:11978663|PMID:12618559|PMID:14764823|PMID:15001545|PMID:15170499|PMID:15277425|PMID:15754742|PMID:16092045|PMID:16741735|PMID:17126328|PMID:17592437|PMID:19228875|PMID:19515026|PMID:21569088|PMID:24097065|PMID:24464100|PMID:25041077|PMID:25741868|PMID:26058934|PMID:26287533|PMID:26467025|PMID:27535533|PMID:27879211|PMID:27884173|PMID:28095440|PMID:28492532|PMID:28609558|PMID:29439679|PMID:30709774|PMID:30930126|PMID:34988346 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736367 D RGD:7240710 20190315 OMIM 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736367 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10545530|PMID:10545531|PMID:10720084|PMID:11022198|PMID:11270685|PMID:11315851|PMID:11914043|PMID:12618559|PMID:12970316|PMID:14764823|PMID:15001545|PMID:15170499|PMID:15277425|PMID:15754742|PMID:16092045|PMID:16741735|PMID:17126328|PMID:17592437|PMID:19228875|PMID:19515026|PMID:20301620|PMID:21569088|PMID:24097065|PMID:25041077|PMID:25741868|PMID:26058934|PMID:26467025|PMID:27535533|PMID:27879211|PMID:27879214|PMID:27884173|PMID:28095440|PMID:28492532|PMID:28609558|PMID:29439679|PMID:30709774|PMID:30930126 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:736367 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:D76N (human) PMID:15170499|REF_RGD_ID:2311308 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:736368 D RGD:9068941 20200609 RGD PMID:17383157|REF_RGD_ID:2311310 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:736368 D RGD:9068941 20220825 MouseDO OMIM:222100 12021724 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9970 obesity ISO RGD:736367 D RGD:9068941 20200609 RGD mRNA:increased expression:exocrine pancreas (human) PMID:15979049|REF_RGD_ID:1625044 12021731 CFAP206 cilia and flagella associated protein 206 gene DOID:630 genetic disease ISO RGD:1321665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021751 CALML3 calmodulin like 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1313562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12021751 CALML3 calmodulin like 3 gene DOID:5419 schizophrenia ISO RGD:1313562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12021751 CALML3 calmodulin like 3 gene DOID:630 genetic disease ISO RGD:1313562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021751 CALML3 calmodulin like 3 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1313562 D RGD:9068941 20220318 RGD protein:decreased expression:liver (human) PMID:29445139|REF_RGD_ID:151665319 12021751 CALML3 calmodulin like 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313562 D RGD:9068941 20220318 RGD associated with hepatocellular carcinoma; protein:decreased expression:liver (human) PMID:29445139|REF_RGD_ID:151665319 12021751 CALML3 calmodulin like 3 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:1313562 D RGD:9068941 20220318 RGD associated with hepatocellular carcinoma; human cells in mouse model PMID:29445139|REF_RGD_ID:151665319 12021751 CALML3 calmodulin like 3 gene DOID:9005172 Lung Neoplasms ISO RGD:1313562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12021756 GRHL3 grainyhead like transcription factor 3 gene DOID:0060239 Van der Woude syndrome ISO RGD:1318023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Van der Woude syndrome 1 PMID:25741868 12021756 GRHL3 grainyhead like transcription factor 3 gene DOID:0080074 neural tube defect ISO RGD:1318023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6635991 12021756 GRHL3 grainyhead like transcription factor 3 gene DOID:0110213 isolated cleft palate ISO RGD:1318023 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated cleft palate PMID:25741868|PMID:27018475|PMID:28492532 12021756 GRHL3 grainyhead like transcription factor 3 gene DOID:630 genetic disease ISO RGD:1318023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24360809|PMID:28276201|PMID:28492532|PMID:28886269 12021756 GRHL3 grainyhead like transcription factor 3 gene DOID:9001916 Fetal Death ISO RGD:1318023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6635991 12021756 GRHL3 grainyhead like transcription factor 3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1318023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12021756 GRHL3 grainyhead like transcription factor 3 gene DOID:9008934 Van der Woude Syndrome 2 ISO RGD:1318023 D RGD:7240710 20180130 OMIM 12021756 GRHL3 grainyhead like transcription factor 3 gene DOID:9008934 Van der Woude Syndrome 2 ISO RGD:1318023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Van der Woude syndrome 2 PMID:11781685|PMID:16199547|PMID:20184620|PMID:22590528|PMID:22829784|PMID:24033266|PMID:24360809|PMID:25741868|PMID:28492532 12021785 KCTD9 potassium channel tetramerization domain containing 9 gene DOID:0110165 Charcot-Marie-Tooth disease type 2E ISO RGD:1323768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E PMID:19158810|PMID:20039262|PMID:28492532 12021785 KCTD9 potassium channel tetramerization domain containing 9 gene DOID:630 genetic disease ISO RGD:1323768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021801 RAB33A RAB33A, member RAS oncogene family gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1344985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:17576681|PMID:20362274|PMID:20818383|PMID:22019070|PMID:23217327|PMID:23806086|PMID:24088041|PMID:25583628|PMID:25590979|PMID:25741868|PMID:25934856|PMID:25986071|PMID:26173962|PMID:26257172|PMID:26467025|PMID:27102849|PMID:28492532|PMID:28842795|PMID:28888069|PMID:28967629|PMID:28975462|PMID:29625556|PMID:31523922|PMID:31850270|PMID:32376792|PMID:33146414|PMID:3856385|PMID:9536098 12021801 RAB33A RAB33A, member RAS oncogene family gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1344985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:25741868|PMID:25986071|PMID:28492532|PMID:31850270 12021801 RAB33A RAB33A, member RAS oncogene family gene DOID:0060786 hypomyelinating leukodystrophy ISO RGD:1344985 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy PMID:25741868|PMID:28842795 12021801 RAB33A RAB33A, member RAS oncogene family gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12021801 RAB33A RAB33A, member RAS oncogene family gene DOID:0110212 Charcot-Marie-Tooth disease X-linked recessive 4 ISO RGD:1344985 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 PMID:20362274|PMID:20818383|PMID:22019070|PMID:23217327|PMID:23806086|PMID:24088041|PMID:25583628|PMID:25590979|PMID:25741868|PMID:25934856|PMID:25986071|PMID:26173962|PMID:26257172|PMID:27102849|PMID:28492532|PMID:28842795|PMID:28967629|PMID:31523922|PMID:32376792|PMID:3856385 12021801 RAB33A RAB33A, member RAS oncogene family gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1344985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder 12021801 RAB33A RAB33A, member RAS oncogene family gene DOID:0111502 combined oxidative phosphorylation deficiency 6 ISO RGD:1344985 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy PMID:20362274|PMID:22019070|PMID:25583628|PMID:25741868|PMID:26173962|PMID:26467025|PMID:28492532 12021801 RAB33A RAB33A, member RAS oncogene family gene DOID:0111741 X-linked deafness 5 ISO RGD:1344985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5 PMID:16816020|PMID:25741868|PMID:25986071|PMID:28492532|PMID:31850270 12021801 RAB33A RAB33A, member RAS oncogene family gene DOID:10003 sensorineural hearing loss ISO RGD:1344985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25590979|PMID:25741868|PMID:28492532|PMID:28967629|PMID:31523922 12021801 RAB33A RAB33A, member RAS oncogene family gene DOID:10283 prostate cancer ISO RGD:1344985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12021801 RAB33A RAB33A, member RAS oncogene family gene DOID:10579 leukodystrophy ISO RGD:1344985 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:25741868|PMID:28842795 12021801 RAB33A RAB33A, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1344985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12021801 RAB33A RAB33A, member RAS oncogene family gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1344985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:26467025|PMID:28492532 12021801 RAB33A RAB33A, member RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:1344985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12021801 RAB33A RAB33A, member RAS oncogene family gene DOID:574 peripheral nervous system disease ISO RGD:1344985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 12021801 RAB33A RAB33A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1344985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20362274|PMID:20818383|PMID:22019070|PMID:23217327|PMID:25583628|PMID:25741868|PMID:25934856|PMID:25986071|PMID:26173962|PMID:27102849|PMID:28492532|PMID:28842795|PMID:32376792|PMID:3856385|PMID:9536098 12021801 RAB33A RAB33A, member RAS oncogene family gene DOID:870 neuropathy ISO RGD:1344985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 12021801 RAB33A RAB33A, member RAS oncogene family gene DOID:9000068 X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy ISO RGD:1344985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SEMD X-linked with mental deterioration | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy PMID:10486082|PMID:16924009|PMID:23239615|PMID:25741868|PMID:27102849|PMID:28492532|PMID:28842795 12021801 RAB33A RAB33A, member RAS oncogene family gene DOID:9002408 Sketetal Dysplasia Coarse Facies Mental Retardation ISO RGD:1344985 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia X-linked with mental deterioration PMID:10486082|PMID:16924009|PMID:23239615|PMID:25741868|PMID:27102849|PMID:28492532|PMID:28842795 12021840 L3MBTL3 L3MBTL histone methyl-lysine binding protein 3 gene DOID:0050902 medulloblastoma ISO RGD:1313522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 12021840 L3MBTL3 L3MBTL histone methyl-lysine binding protein 3 gene DOID:630 genetic disease ISO RGD:1313522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021840 L3MBTL3 L3MBTL histone methyl-lysine binding protein 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1313522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 12021873 C17H17orf50 chromosome 17 C17orf50 homolog gene DOID:630 genetic disease ISO RGD:1603574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021884 LOC100970211 2'-5'-oligoadenylate synthase 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1347854 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 12021884 LOC100970211 2'-5'-oligoadenylate synthase 2 gene DOID:630 genetic disease ISO RGD:1347854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021884 LOC100970211 2'-5'-oligoadenylate synthase 2 gene DOID:9001488 Human Influenza ISO RGD:1347854 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12021905 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:0060041 autism spectrum disorder ISO RGD:736048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 12021905 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:736048 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 12021905 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:0112215 developmental and epileptic encephalopathy 79 ISO RGD:736048 D RGD:7240710 20190911 OMIM 12021905 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:0112215 developmental and epileptic encephalopathy 79 ISO RGD:736048 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 79 PMID:25741868|PMID:28492532|PMID:29961870|PMID:31056671|PMID:31513310 12021905 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:11983 Prader-Willi syndrome ISO RGD:736048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 12021905 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:12849 autistic disorder ISO RGD:736048 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 12021905 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:1596 depressive disorder ISO RGD:736048 D RGD:9068941 20200609 RGD DNA:repeat:: (human) PMID:9267853|REF_RGD_ID:1358629 12021905 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:1826 epilepsy ISO RGD:736048 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12021905 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:1932 Angelman syndrome ISO RGD:736048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:24088041|PMID:26633545 12021905 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:3312 bipolar disorder ISO RGD:736048 D RGD:9068941 20200609 RGD PMID:9514592|REF_RGD_ID:1358630 12021905 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:5419 schizophrenia ISO RGD:736048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12021905 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:630 genetic disease ISO RGD:736048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021905 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12021905 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:9004864 Isodicentric Chromosome 15 Syndrome ISO RGD:736048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23663378 12021905 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:9007072 Social Communication Disorder ISO RGD:736048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27231709 12021905 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:9008023 Memory Disorders ISO RGD:736048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20180861 12021905 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:9009060 Childhood Absence Epilepsy 1 ISO RGD:736048 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 PMID:11198279|PMID:26068938|PMID:26950270|PMID:28053010|PMID:28492532 12021933 DBX2 developing brain homeobox 2 gene DOID:630 genetic disease ISO RGD:1605171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021949 AOPEP aminopeptidase O (putative) gene DOID:0060071 pre-malignant neoplasm ISO RGD:1320010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12021949 AOPEP aminopeptidase O (putative) gene DOID:0060224 atrial fibrillation ISO RGD:1320010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22544366|PMID:29892015|PMID:30061737 12021949 AOPEP aminopeptidase O (putative) gene DOID:0111087 Fanconi anemia complementation group C ISO RGD:1320010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group C PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:10431244|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17924555|PMID:19278965|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32496904|PMID:32546565|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 12021949 AOPEP aminopeptidase O (putative) gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1320010 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:08128956|PMID:08844212|PMID:09616183|PMID:12670332|PMID:15695377|PMID:17924555|PMID:22995991|PMID:23028338|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26689913|PMID:26740942|PMID:27153395|PMID:28492532|PMID:28767289|PMID:30031030|PMID:31784482|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:33471991|PMID:34117267|PMID:8128956|PMID:8844212|PMID:8882868|PMID:9521584|PMID:9616183 12021949 AOPEP aminopeptidase O (putative) gene DOID:0111140 IGSF1 deficiency syndrome ISO RGD:1320010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement 12021949 AOPEP aminopeptidase O (putative) gene DOID:1059 intellectual disability ISO RGD:1320010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12021949 AOPEP aminopeptidase O (putative) gene DOID:13636 Fanconi anemia ISO RGD:1320010 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:11050007|PMID:12093742|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17703323|PMID:17924555|PMID:19557015|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22382802|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28767289|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30630526|PMID:30967997|PMID:31589614|PMID:31721781|PMID:31874108|PMID:32566746|PMID:32659497|PMID:32923857|PMID:33050356|PMID:33471991|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 12021949 AOPEP aminopeptidase O (putative) gene DOID:13636 Fanconi anemia ISO RGD:1320010 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:11050007|PMID:12093742|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28717661|PMID:28767289|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30630526|PMID:30967997|PMID:31589614|PMID:31721781|PMID:31874108|PMID:32496904|PMID:32566746|PMID:32659497|PMID:32923857|PMID:33050356|PMID:33471991|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 12021949 AOPEP aminopeptidase O (putative) gene DOID:13636 Fanconi anemia ISO RGD:1320010 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:11050007|PMID:12093742|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28717661|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30630526|PMID:30967997|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33471991|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 12021949 AOPEP aminopeptidase O (putative) gene DOID:13636 Fanconi anemia ISO RGD:1320010 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 12021949 AOPEP aminopeptidase O (putative) gene DOID:13636 Fanconi anemia ISO RGD:1320010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 12021949 AOPEP aminopeptidase O (putative) gene DOID:1520 colon carcinoma ISO RGD:1320010 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:25058500|PMID:27165003 12021949 AOPEP aminopeptidase O (putative) gene DOID:1612 breast cancer ISO RGD:1320010 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:08128956|PMID:08844212|PMID:09616183|PMID:14695169|PMID:15695377|PMID:17924555|PMID:20509860|PMID:21520333|PMID:21659346|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26689913|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28492532|PMID:29654263|PMID:29922827|PMID:30031030|PMID:30630526|PMID:31721781|PMID:31874108|PMID:32546565|PMID:33471991|PMID:7689011|PMID:8128956|PMID:8844212|PMID:8882868|PMID:9521584|PMID:9616183 12021949 AOPEP aminopeptidase O (putative) gene DOID:1612 breast cancer ISO RGD:1320010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:08128956|PMID:08844212|PMID:09616183|PMID:14695169|PMID:15695377|PMID:16199547|PMID:17924555|PMID:20509860|PMID:21520333|PMID:21659346|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26689913|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28492532|PMID:29654263|PMID:29922827|PMID:30031030|PMID:30630526|PMID:31721781|PMID:31874108|PMID:32546565|PMID:32885271|PMID:33471991|PMID:7689011|PMID:8128956|PMID:8844212|PMID:8882868|PMID:9521584|PMID:9616183 12021949 AOPEP aminopeptidase O (putative) gene DOID:2394 ovarian cancer ISO RGD:1320010 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 12021949 AOPEP aminopeptidase O (putative) gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1320010 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:17703323|PMID:17924555|PMID:22382802|PMID:28492532 12021949 AOPEP aminopeptidase O (putative) gene DOID:5426 primary ovarian insufficiency ISO RGD:1320010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12021949 AOPEP aminopeptidase O (putative) gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1320010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532|PMID:32566746 12021949 AOPEP aminopeptidase O (putative) gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1320010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12021949 AOPEP aminopeptidase O (putative) gene DOID:9004381 Dystonia 31 ISO RGD:1320010 D RGD:7240710 20211124 OMIM 12021949 AOPEP aminopeptidase O (putative) gene DOID:9004381 Dystonia 31 ISO RGD:1320010 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dystonia 31 PMID:25741868|PMID:34596301 12021949 AOPEP aminopeptidase O (putative) gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08103176|PMID:08844212|PMID:08882868|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15695377|PMID:16199547|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20869034|PMID:21520333|PMID:22720145|PMID:23028338|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26689913|PMID:28425259|PMID:28492532|PMID:28767289|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30967997|PMID:31589614|PMID:32566746|PMID:32659497|PMID:32923857|PMID:33050356|PMID:8103176|PMID:8844212|PMID:8882868|PMID:9207444 12021949 AOPEP aminopeptidase O (putative) gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320010 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15695377|PMID:16199547|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740942|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28767289|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30967997|PMID:31589614|PMID:32496904|PMID:32566746|PMID:32659497|PMID:32923857|PMID:33050356|PMID:33471991|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9521584|PMID:9616183 12021949 AOPEP aminopeptidase O (putative) gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320010 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15695377|PMID:16199547|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740942|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28767289|PMID:29641532|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30967997|PMID:31589614|PMID:31784482|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33471991|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9521584|PMID:9616183 12021949 AOPEP aminopeptidase O (putative) gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320010 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 12021949 AOPEP aminopeptidase O (putative) gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320010 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 12021974 SLC1A5 solute carrier family 1 member 5 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:1347799 D RGD:9068941 20220225 RGD PMID:24762957|REF_RGD_ID:151361157 12021974 SLC1A5 solute carrier family 1 member 5 gene DOID:0080600 COVID-19 ISO RGD:1347799 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12021974 SLC1A5 solute carrier family 1 member 5 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 12021974 SLC1A5 solute carrier family 1 member 5 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1347799 D RGD:9068941 20220224 RGD protein:increased expression:esophagus PMID:33609949|REF_RGD_ID:151361149 12021974 SLC1A5 solute carrier family 1 member 5 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1347799 D RGD:9068941 20220303 RGD PMID:26936531|REF_RGD_ID:11532833 12021974 SLC1A5 solute carrier family 1 member 5 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1347799 D RGD:9068941 20220224 RGD PMID:26279756|REF_RGD_ID:151361150 12021974 SLC1A5 solute carrier family 1 member 5 gene DOID:630 genetic disease ISO RGD:1347799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021974 SLC1A5 solute carrier family 1 member 5 gene DOID:6432 pulmonary hypertension ISO RGD:1347799 D RGD:9068941 20220224 RGD protein:increased expression:myocytes plasma membrane, right ventricle PMID:23794090|REF_RGD_ID:151361111 12021974 SLC1A5 solute carrier family 1 member 5 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:708512 D RGD:9068941 20220224 RGD mRNA:increased expression:right ventricle PMID:23794090|REF_RGD_ID:151361111 12021987 TAAR5 trace amine associated receptor 5 gene DOID:630 genetic disease ISO RGD:1603706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12021992 MLPH melanophilin gene DOID:0060834 Griscelli syndrome type 3 ISO RGD:1321808 D RGD:7240710 20180130 OMIM 12021992 MLPH melanophilin gene DOID:0060834 Griscelli syndrome type 3 ISO RGD:1321808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 3 PMID:12148598|PMID:12897212|PMID:21883982|PMID:22711375|PMID:25741868|PMID:26915675|PMID:28492532|PMID:30389201|PMID:31721180 12021992 MLPH melanophilin gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1321808 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12021992 MLPH melanophilin gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1321808 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12021992 MLPH melanophilin gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1321808 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12021992 MLPH melanophilin gene DOID:1059 intellectual disability ISO RGD:1321808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12021992 MLPH melanophilin gene DOID:630 genetic disease ISO RGD:1321808 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12021992 MLPH melanophilin gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1321808 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12021992 MLPH melanophilin gene DOID:987 alopecia ISO RGD:12374033 D RGD:9068941 20230128 OMIA Coat colour, dilution, MLPH-related PMID:11887392|PMID:12358609|PMID:15016299|PMID:15958794|PMID:15960853|PMID:16131833|PMID:16674733|PMID:17519392|PMID:19436637|PMID:19521467|PMID:29349785|PMID:32531980|PMID:34088257|PMID:34751460|PMID:35510419|PMID:36427679|PMID:5019544|PMID:591423|PMID:7725619|PMID:8257319|PMID:8533225|PMID:8735542|PMID:9789677 12022025 ATP1B3 ATPase Na+/K+ transporting subunit beta 3 gene DOID:630 genetic disease ISO RGD:733031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022040 PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha gene DOID:1059 intellectual disability ISO RGD:1321266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12022040 PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha gene DOID:630 genetic disease ISO RGD:1321266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12022040 PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha gene DOID:9006582 Oculoskeletodental Syndrome ISO RGD:1321266 D RGD:7240710 20190626 OMIM 12022040 PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha gene DOID:9006582 Oculoskeletodental Syndrome ISO RGD:1321266 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOSKELETODENTAL SYNDROME PMID:25741868|PMID:28492532|PMID:31034465 12022040 PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha gene DOID:9007661 Dwarfism ISO RGD:1321266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:31034465 12022040 PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:1321266 D RGD:9068941 20200609 RGD mRNA:decreased expression:Islets of Langerhans PMID:21127054|REF_RGD_ID:7243008 12022083 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:0050546 congenital adrenal insufficiency ISO RGD:735631 D RGD:7240710 20180130 OMIM 12022083 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:0050546 congenital adrenal insufficiency ISO RGD:735631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete | ClinVar Annotator: match by term: Congenital Adrenal Insufficiency | ClinVar Annotator: match by term: P450scc DEFICIENCY PMID:11502818|PMID:12161514|PMID:15507506|PMID:16705068|PMID:18182448|PMID:19116240|PMID:21159840|PMID:21880796|PMID:23337730|PMID:24033266|PMID:25741868|PMID:26300845|PMID:27008691|PMID:28492532|PMID:29178636|PMID:30233493|PMID:30299480|PMID:30620006 12022083 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:735631 D RGD:9068941 20200609 RGD DNA:splice-site mutation PMID:12161514|REF_RGD_ID:1599693 12022083 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:735631 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12022083 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:10763 hypertension ISO RGD:69325 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus PMID:16116051|REF_RGD_ID:1599701 12022083 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:11446 sciatic neuropathy ISO RGD:69325 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord dorsal horn (rat) PMID:16632873|REF_RGD_ID:4889134 12022083 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:1824 status epilepticus ISO RGD:69325 D RGD:9068941 20200609 RGD Protein:increased expression:brain PMID:16780839|REF_RGD_ID:1599696 12022083 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:1924 hypogonadism ISO RGD:69325 D RGD:9068941 20200609 RGD mRNA:decreased expression:testis (rat) PMID:17880366|REF_RGD_ID:4833436 12022083 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:735631 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12022083 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:2527 nephrosis ISO RGD:69325 D RGD:9068941 20200609 RGD mRNA:decreased expression PMID:16574160|REF_RGD_ID:1599698 12022083 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:2717 Bloom syndrome ISO RGD:735631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12022083 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 12022083 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:4195 hyperglycemia ISO RGD:69325 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:ovary (rat) PMID:18353182|REF_RGD_ID:4785271 12022083 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:5419 schizophrenia ISO RGD:735631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12022083 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:735631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12022083 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:9000998 Brain Injuries ISO RGD:69325 D RGD:9068941 20200609 RGD mRNA:increased expression:hindbrain PMID:16329132|REF_RGD_ID:1599699 12022083 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:69325 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland, maternal (rat) PMID:17881205|REF_RGD_ID:4832477 12022083 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:735631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11502818 12022083 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:9003787 Lipoid Congenital Adrenal Hyperplasia ISO RGD:735631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11502818 12022083 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:9003936 Cardiomegaly ISO RGD:69325 D RGD:9068941 20200609 RGD mRNA:increased expression:cardiac muscle tissue (rat) PMID:19349910|REF_RGD_ID:4145630 12022083 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:9003936 Cardiomegaly ISO RGD:735632 D RGD:9068941 20200609 RGD mRNA:increased expression:cardiac muscle tissue (mouse) PMID:19349910|REF_RGD_ID:4145630 12022083 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69325 D RGD:9068941 20200609 RGD mRNA:decreased expression:sciatic nerve (rat) PMID:20826654|REF_RGD_ID:4145530 12022083 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:735631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23200943 12022083 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:9008622 Adrenal Insufficiency ISO RGD:735631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11502818 12022083 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:9256 colorectal cancer ISO RGD:735631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12022083 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69325 D RGD:9068941 20200609 RGD mRNA:decreased expression:testis, Leydig cell (rat) PMID:18481435|REF_RGD_ID:4889107 12022102 SNAP25 synaptosome associated protein 25 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:734151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:25381298|PMID:25741868|PMID:28492532|PMID:33147442|PMID:33299146 12022102 SNAP25 synaptosome associated protein 25 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:734151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 12022102 SNAP25 synaptosome associated protein 25 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:734151 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:25741868 12022102 SNAP25 synaptosome associated protein 25 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:734151 D RGD:7240710 20180130 OMIM 12022102 SNAP25 synaptosome associated protein 25 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:734151 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 18 | ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:17576681|PMID:25381298|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33147442|PMID:33299146|PMID:9536098 12022102 SNAP25 synaptosome associated protein 25 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:734151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25381298|PMID:25741868|PMID:28492532|PMID:33147442|PMID:33299146 12022102 SNAP25 synaptosome associated protein 25 gene DOID:1059 intellectual disability ISO RGD:734151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:33299146 12022102 SNAP25 synaptosome associated protein 25 gene DOID:10907 microcephaly ISO RGD:734151 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:33299146 12022102 SNAP25 synaptosome associated protein 25 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:734152 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 12022102 SNAP25 synaptosome associated protein 25 gene DOID:14250 Down syndrome ISO RGD:734151 D RGD:9068941 20200609 RGD PMID:12499044|REF_RGD_ID:1579958 12022102 SNAP25 synaptosome associated protein 25 gene DOID:1596 depressive disorder ISO RGD:734151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 12022102 SNAP25 synaptosome associated protein 25 gene DOID:1826 epilepsy ISO RGD:734151 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:28492532|PMID:33299146 12022102 SNAP25 synaptosome associated protein 25 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:734151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12022102 SNAP25 synaptosome associated protein 25 gene DOID:2234 focal epilepsy ISO RGD:734151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal epilepsy PMID:25741868|PMID:33299146 12022102 SNAP25 synaptosome associated protein 25 gene DOID:2303 stereotypic movement disorder ISO RGD:734151 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stereotypic movement disorder PMID:25741868|PMID:33299146 12022102 SNAP25 synaptosome associated protein 25 gene DOID:2468 psychotic disorder ISO RGD:734151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 12022102 SNAP25 synaptosome associated protein 25 gene DOID:3312 bipolar disorder ISO RGD:734151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 12022102 SNAP25 synaptosome associated protein 25 gene DOID:3635 congenital myasthenic syndrome ISO RGD:734151 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Presynaptic congenital myasthenic syndromes 12022102 SNAP25 synaptosome associated protein 25 gene DOID:5419 schizophrenia ISO RGD:734152 D RGD:9068941 20220825 MouseDO OMIM:181500 12022102 SNAP25 synaptosome associated protein 25 gene DOID:5723 optic atrophy ISO RGD:734151 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868|PMID:33299146 12022102 SNAP25 synaptosome associated protein 25 gene DOID:630 genetic disease ISO RGD:734151 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 12022102 SNAP25 synaptosome associated protein 25 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:734151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy with generalized tonic-clonic seizures PMID:25741868|PMID:33299146 12022102 SNAP25 synaptosome associated protein 25 gene DOID:9000165 Neuromuscular Manifestations ISO RGD:734151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17023870 12022102 SNAP25 synaptosome associated protein 25 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 12022102 SNAP25 synaptosome associated protein 25 gene DOID:9005603 Muscle Hypotonia ISO RGD:734151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Unilateral Hypotonia PMID:25741868|PMID:33299146 12022102 SNAP25 synaptosome associated protein 25 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12022102 SNAP25 synaptosome associated protein 25 gene DOID:9007892 Tics ISO RGD:734151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17023870 12022102 SNAP25 synaptosome associated protein 25 gene DOID:9008086 Developmental Disabilities ISO RGD:734151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:33299146 12022102 SNAP25 synaptosome associated protein 25 gene DOID:9245 Alagille syndrome ISO RGD:734151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:10213047|PMID:16575836|PMID:19058200|PMID:22382802|PMID:28492532|PMID:32733715 12022102 SNAP25 synaptosome associated protein 25 gene DOID:9352 type 2 diabetes mellitus ISO RGD:734151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12022102 SNAP25 synaptosome associated protein 25 gene DOID:9352 type 2 diabetes mellitus ISO RGD:734152 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 12022102 SNAP25 synaptosome associated protein 25 gene DOID:9970 obesity ISO RGD:734152 D RGD:9068941 20220825 MouseDO OMIM:601665 12022128 ZBTB10 zinc finger and BTB domain containing 10 gene DOID:11782 astigmatism ISO RGD:1348951 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Astigmatism PMID:25741868 12022128 ZBTB10 zinc finger and BTB domain containing 10 gene DOID:630 genetic disease ISO RGD:1348951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022146 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:0090060 Wolcott-Rallison syndrome ISO RGD:1354090 D RGD:7240710 20180130 OMIM 12022146 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:0090060 Wolcott-Rallison syndrome ISO RGD:1354090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Wolcott-Rallison dysplasia PMID:10932183|PMID:11997520|PMID:12960215|PMID:16813601|PMID:19837917|PMID:25741868|PMID:26380986|PMID:28492532|PMID:31183082|PMID:31264968|PMID:7551159 12022146 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:1824 status epilepticus ISO RGD:1354090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16492139 12022146 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:1838 Menkes disease ISO RGD:1354090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Menkes kinky-hair syndrome PMID:25741868 12022146 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:70884 D RGD:9068941 20200903 RGD protein:increased expression:lung PMID:32209028|REF_RGD_ID:38549370 12022146 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:630 genetic disease ISO RGD:1354090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12022146 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:65 connective tissue disease ISO RGD:1354090 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 12022146 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:678 progressive supranuclear palsy ISO RGD:1354090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21685912 12022146 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1354090 D RGD:9068941 20200702 RGD protein:hypophosphorylation:liver: PMID:26234401|REF_RGD_ID:32716425 12022146 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:9004009 Reperfusion Injury ISO RGD:70884 D RGD:9068941 20200609 RGD protein:increased phosphorylation:kidney PMID:15936177|REF_RGD_ID:1581062 12022146 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:1354090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19041636 12022146 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:9008022 Temporomandibular Joint Osteoarthritis ISO RGD:70884 D RGD:9068941 20200709 RGD mRNA,protein:increased expression:chondrocyte PMID:31007149|REF_RGD_ID:34888237 12022146 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1354090 D RGD:9068941 20200702 RGD PMID:26234401|REF_RGD_ID:32716425 12022146 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:9351 diabetes mellitus ISO RGD:1354090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 12022146 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1354090 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15483661|REF_RGD_ID:1601017 12022167 POLH DNA polymerase eta gene DOID:0050427 xeroderma pigmentosum ISO RGD:1320482 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:10398605|PMID:10871396|PMID:11121129|PMID:17344931|PMID:18368133|PMID:18703314|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30414346|PMID:33558524 12022167 POLH DNA polymerase eta gene DOID:0050444 infantile Refsum disease ISO RGD:1320482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12022167 POLH DNA polymerase eta gene DOID:0050671 female breast cancer susceptibility ISO RGD:1320482 D RGD:9068941 20220609 RGD DNA:missense mutation:cds: (human) PMID:30303537|REF_RGD_ID:152995259 12022167 POLH DNA polymerase eta gene DOID:0110847 xeroderma pigmentosum variant type ISO RGD:1320482 D RGD:7240710 20180130 OMIM 12022167 POLH DNA polymerase eta gene DOID:0110847 xeroderma pigmentosum variant type ISO RGD:1320482 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum variant type PMID:10385124|PMID:10398605|PMID:10871396|PMID:11121129|PMID:17344931|PMID:18368133|PMID:18703314|PMID:24033266|PMID:24130121|PMID:25741868|PMID:26884178|PMID:27004399|PMID:28202063|PMID:28492532|PMID:30414346|PMID:33558524|PMID:35111200|PMID:36308448 12022167 POLH DNA polymerase eta gene DOID:1612 breast cancer ISO RGD:1320482 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532|PMID:30414346|PMID:33558524 12022167 POLH DNA polymerase eta gene DOID:630 genetic disease ISO RGD:1320482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12022167 POLH DNA polymerase eta gene DOID:905 Zellweger syndrome ISO RGD:1320482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12022180 ABHD3 abhydrolase domain containing 3, phospholipase gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1321686 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 12022180 ABHD3 abhydrolase domain containing 3, phospholipase gene DOID:1059 intellectual disability ISO RGD:1321686 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12022180 ABHD3 abhydrolase domain containing 3, phospholipase gene DOID:630 genetic disease ISO RGD:1321686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022193 GPBAR1 G protein-coupled bile acid receptor 1 gene DOID:0050770 polycystic liver disease ISO RGD:1331948 D RGD:9068941 20200609 RGD protein:increased expression: cholangiocyte PMID:28543567|REF_RGD_ID:14700993 12022193 GPBAR1 G protein-coupled bile acid receptor 1 gene DOID:0050770 polycystic liver disease treatment ISO RGD:1331948 D RGD:9068941 20200609 RGD PMID:28543567|REF_RGD_ID:14700993 12022193 GPBAR1 G protein-coupled bile acid receptor 1 gene DOID:0080322 polycystic kidney disease ISO RGD:631400 D RGD:9068941 20200609 RGD mRNA,protein:increased expression: cholangiocyte PMID:28543567|REF_RGD_ID:14700993 12022193 GPBAR1 G protein-coupled bile acid receptor 1 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:631400 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:liver (rat) treatment with INT-767 PMID:30038487|REF_RGD_ID:15092090 12022193 GPBAR1 G protein-coupled bile acid receptor 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:736919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12022193 GPBAR1 G protein-coupled bile acid receptor 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:736919 D RGD:9068941 20200609 RGD mRNA,protein:increased expression: cholangiocyte PMID:28543567|REF_RGD_ID:14700993 12022193 GPBAR1 G protein-coupled bile acid receptor 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:736919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12022193 GPBAR1 G protein-coupled bile acid receptor 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:736919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12022193 GPBAR1 G protein-coupled bile acid receptor 1 gene DOID:630 genetic disease ISO RGD:736919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022193 GPBAR1 G protein-coupled bile acid receptor 1 gene DOID:8778 Crohn's disease ISO RGD:736919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23566200 12022193 GPBAR1 G protein-coupled bile acid receptor 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736919 D RGD:9068941 20200609 RGD mRNA,protein:increased expression: cholangiocyte PMID:28543567|REF_RGD_ID:14700993 12022193 GPBAR1 G protein-coupled bile acid receptor 1 gene DOID:9001581 Constipation ISO RGD:736919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23041323 12022193 GPBAR1 G protein-coupled bile acid receptor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12022210 LOC100983484 olfactory receptor 10W1 gene DOID:1059 intellectual disability ISO RGD:1349715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12022210 LOC100983484 olfactory receptor 10W1 gene DOID:630 genetic disease ISO RGD:1349715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022215 LOC100983712 protein PET100 homolog, mitochondrial gene DOID:0080490 mucolipidosis type IV ISO RGD:5135069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12022215 LOC100983712 protein PET100 homolog, mitochondrial gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:5135069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 12022215 LOC100983712 protein PET100 homolog, mitochondrial gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:5135069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex IV deficiency PMID:24462369|PMID:25293719|PMID:25741868|PMID:32313153 12022215 LOC100983712 protein PET100 homolog, mitochondrial gene DOID:630 genetic disease ISO RGD:5135069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12022215 LOC100983712 protein PET100 homolog, mitochondrial gene DOID:9004872 Congenital Infantile Lactic Acidosis ISO RGD:5135069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital lactic acidosis PMID:25293719|PMID:25741868 12022215 LOC100983712 protein PET100 homolog, mitochondrial gene DOID:9006173 Mitochondrial Complex IV Deficiency, Nuclear Type 12 ISO RGD:5135069 D RGD:7240710 20201111 OMIM 12022215 LOC100983712 protein PET100 homolog, mitochondrial gene DOID:9006173 Mitochondrial Complex IV Deficiency, Nuclear Type 12 ISO RGD:5135069 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 PMID:17576681|PMID:24462369|PMID:25293719|PMID:25741868|PMID:28492532|PMID:32313153|PMID:9536098 12022215 LOC100983712 protein PET100 homolog, mitochondrial gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:5135069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:24462369|PMID:25293719|PMID:25741868|PMID:32313153 12022224 NT5E 5'-nucleotidase ecto gene DOID:0111582 hereditary arterial and articular multiple calcification syndrome ISO RGD:734028 D RGD:7240710 20180130 OMIM 12022224 NT5E 5'-nucleotidase ecto gene DOID:0111582 hereditary arterial and articular multiple calcification syndrome ISO RGD:734028 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary arterial and articular multiple calcification syndrome PMID:21288095|PMID:24887587|PMID:25741868|PMID:28492532 12022224 NT5E 5'-nucleotidase ecto gene DOID:1824 status epilepticus ISO RGD:61956 D RGD:9068941 20200609 RGD protein:increased activity:cerebral cortex, synaptosome (rat) PMID:16274951|REF_RGD_ID:5134344 12022224 NT5E 5'-nucleotidase ecto gene DOID:630 genetic disease ISO RGD:734028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022224 NT5E 5'-nucleotidase ecto gene DOID:769 neuroblastoma ISO RGD:734028 D RGD:9068941 20221006 CTD CTD Direct Evidence: therapeutic PMID:34773529 12022224 NT5E 5'-nucleotidase ecto gene DOID:9000217 Stomach Neoplasms ISO RGD:734028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12022224 NT5E 5'-nucleotidase ecto gene DOID:9000918 Disease Progression ISO RGD:734028 D RGD:9068941 20221006 CTD CTD Direct Evidence: therapeutic PMID:34773529 12022224 NT5E 5'-nucleotidase ecto gene DOID:9000998 Brain Injuries ISO RGD:61956 D RGD:9068941 20200609 RGD protein:altered expression:cerebral cortex (rat) PMID:21337375|REF_RGD_ID:5134348 12022224 NT5E 5'-nucleotidase ecto gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18263696 12022224 NT5E 5'-nucleotidase ecto gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61956 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, synaptosome (rat) PMID:19723569|REF_RGD_ID:5134343 12022224 NT5E 5'-nucleotidase ecto gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:734028 D RGD:9068941 20221006 CTD CTD Direct Evidence: therapeutic PMID:34773529 12022237 LOC100985183 uncharacterized protein C12orf71 gene DOID:630 genetic disease ISO RGD:2302460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022244 ZNF469 zinc finger protein 469 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1316175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 12022244 ZNF469 zinc finger protein 469 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1316175 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12022244 ZNF469 zinc finger protein 469 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1316175 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:25168418 12022244 ZNF469 zinc finger protein 469 gene DOID:10124 corneal disease ISO RGD:1316175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18452888 12022244 ZNF469 zinc finger protein 469 gene DOID:10126 keratoconus ISO RGD:1316175 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Keratoconus PMID:24895405|PMID:25741868|PMID:28492532 12022244 ZNF469 zinc finger protein 469 gene DOID:11830 myopia ISO RGD:1316175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868|PMID:28492532 12022244 ZNF469 zinc finger protein 469 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1316175 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:24082139|PMID:24895405|PMID:25097247|PMID:25564447|PMID:25741868|PMID:28377322|PMID:28484309|PMID:28492532|PMID:28622062|PMID:29228253|PMID:31107761|PMID:32671420|PMID:33739556|PMID:33816482|PMID:34368841 12022244 ZNF469 zinc finger protein 469 gene DOID:14775 brittle cornea syndrome 1 ISO RGD:1316175 D RGD:7240710 20180130 OMIM 12022244 ZNF469 zinc finger protein 469 gene DOID:14775 brittle cornea syndrome 1 ISO RGD:1316175 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility | ClinVar Annotator: match by term: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE | ClinVar Annotator: match by term: EDS6B PMID:18452888|PMID:19661234|PMID:20938016|PMID:24082139|PMID:24895405|PMID:25097247|PMID:25564447|PMID:25741868|PMID:28377322|PMID:28484309|PMID:28492532|PMID:28622062|PMID:29228253|PMID:31107761|PMID:32671420|PMID:33739556|PMID:33747040|PMID:33816482|PMID:34368841|PMID:5755738|PMID:7387950 12022244 ZNF469 zinc finger protein 469 gene DOID:14780 KBG syndrome ISO RGD:1316175 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 12022244 ZNF469 zinc finger protein 469 gene DOID:630 genetic disease ISO RGD:1316175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12022244 ZNF469 zinc finger protein 469 gene DOID:65 connective tissue disease ISO RGD:1316175 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 12022244 ZNF469 zinc finger protein 469 gene DOID:8534 gastroesophageal reflux disease ISO RGD:1316175 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Gastroesophageal reflux PMID:25741868 12022244 ZNF469 zinc finger protein 469 gene DOID:9001224 Striae Distensae ISO RGD:1316175 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Striae distensae PMID:25741868 12022244 ZNF469 zinc finger protein 469 gene DOID:9001946 Skin Abnormalities ISO RGD:1316175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18452888 12022244 ZNF469 zinc finger protein 469 gene DOID:9002957 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO ISO RGD:1316175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to PMID:24530203|PMID:26913920|PMID:28492532 12022244 ZNF469 zinc finger protein 469 gene DOID:9003318 Keratoconus 1 ISO RGD:1316175 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Keratoconus 1 PMID:24895405|PMID:25564447|PMID:25741868|PMID:28492532|PMID:29228253 12022244 ZNF469 zinc finger protein 469 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1316175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12022244 ZNF469 zinc finger protein 469 gene DOID:9005077 Joint Instability ISO RGD:1316175 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity PMID:25741868 12022244 ZNF469 zinc finger protein 469 gene DOID:9005468 Brittle Cornea Syndrome ISO RGD:1316175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brittle cornea syndrome PMID:25741868|PMID:28492532|PMID:29228253 12022262 ZNF396 zinc finger protein 396 gene DOID:1059 intellectual disability ISO RGD:1347461 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12022262 ZNF396 zinc finger protein 396 gene DOID:630 genetic disease ISO RGD:1347461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022277 CYTL1 cytokine like 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1351161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 12022277 CYTL1 cytokine like 1 gene DOID:630 genetic disease ISO RGD:1351161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022277 CYTL1 cytokine like 1 gene DOID:6678 tooth and nail syndrome ISO RGD:1351161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:14630905|PMID:28492532|PMID:9742121 12022305 MARVELD3 MARVEL domain containing 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1347121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12022305 MARVELD3 MARVEL domain containing 3 gene DOID:630 genetic disease ISO RGD:1347121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022317 BCLAF1 BCL2 associated transcription factor 1 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1320189 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12022317 BCLAF1 BCL2 associated transcription factor 1 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1320189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 12022317 BCLAF1 BCL2 associated transcription factor 1 gene DOID:0111955 immunodeficiency 27A ISO RGD:1320189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 12022317 BCLAF1 BCL2 associated transcription factor 1 gene DOID:5409 lung small cell carcinoma ISO RGD:1320189 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 12022317 BCLAF1 BCL2 associated transcription factor 1 gene DOID:630 genetic disease ISO RGD:1320189 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266 12022317 BCLAF1 BCL2 associated transcription factor 1 gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:1320189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy 12022317 BCLAF1 BCL2 associated transcription factor 1 gene DOID:9007098 Pulmonary Atresia ISO RGD:1320189 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia 12022335 TGFB3 transforming growth factor beta 3 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:23861362|PMID:25637381|PMID:25741868|PMID:28492532|PMID:28798025|PMID:31568572 12022335 TGFB3 transforming growth factor beta 3 gene DOID:0050451 Brugada syndrome ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:25741868 12022335 TGFB3 transforming growth factor beta 3 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:735686 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:28492532 12022335 TGFB3 transforming growth factor beta 3 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:735686 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS PMID:25741868|PMID:28492532 12022335 TGFB3 transforming growth factor beta 3 gene DOID:0050563 nonsyndromic deafness ISO RGD:735686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27356075 12022335 TGFB3 transforming growth factor beta 3 gene DOID:0050577 cranioectodermal dysplasia ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 12022335 TGFB3 transforming growth factor beta 3 gene DOID:0050700 cardiomyopathy ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28240702|PMID:28492532 12022335 TGFB3 transforming growth factor beta 3 gene DOID:0060480 left ventricular noncompaction ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:23861362|PMID:25637381|PMID:25741868|PMID:28492532|PMID:28798025|PMID:31568572 12022335 TGFB3 transforming growth factor beta 3 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:735686 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:24798638|PMID:25741868|PMID:25835445|PMID:2618446|PMID:28425089|PMID:28492532 12022335 TGFB3 transforming growth factor beta 3 gene DOID:0070236 Loeys-Dietz syndrome 5 ISO RGD:735686 D RGD:7240710 20180130 OMIM 12022335 TGFB3 transforming growth factor beta 3 gene DOID:0070236 Loeys-Dietz syndrome 5 ISO RGD:735686 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 5 | ClinVar Annotator: match by term: Rienhoff syndrome PMID:12529708|PMID:15639475|PMID:16199547|PMID:17576681|PMID:23824657|PMID:23861362|PMID:24125834|PMID:24238504|PMID:24798638|PMID:25136781|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:25835445|PMID:2618446|PMID:26184463|PMID:26188975|PMID:27848944|PMID:28087566|PMID:28166282|PMID:28240702|PMID:28425089|PMID:28492532|PMID:28798025|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29907982|PMID:31568572|PMID:31898322|PMID:32746448|PMID:32897753|PMID:34659991|PMID:7737999|PMID:9536098|PMID:9683588 12022335 TGFB3 transforming growth factor beta 3 gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:735686 D RGD:7240710 20180130 OMIM 12022335 TGFB3 transforming growth factor beta 3 gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:735686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:12529708|PMID:15639475|PMID:16199547|PMID:23824657|PMID:23861362|PMID:24798638|PMID:25741868|PMID:25835445|PMID:26184463|PMID:26188975|PMID:28087566|PMID:28166282|PMID:28492532|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29907982|PMID:31898322|PMID:32746448|PMID:32897753 12022335 TGFB3 transforming growth factor beta 3 gene DOID:1059 intellectual disability ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12022335 TGFB3 transforming growth factor beta 3 gene DOID:10763 hypertension no_association ISO RGD:735686 D RGD:9068941 20200609 RGD DNA:polymorphism, SNPs PMID:15924806|REF_RGD_ID:1625704 12022335 TGFB3 transforming growth factor beta 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25637381|PMID:25741868|PMID:25835445|PMID:28492532|PMID:28798025|PMID:31568572 12022335 TGFB3 transforming growth factor beta 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 12022335 TGFB3 transforming growth factor beta 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:735686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:23824657|PMID:23861362|PMID:24125834|PMID:24238504|PMID:24798638|PMID:25136781|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:25835445|PMID:26184463|PMID:26188975|PMID:27848944|PMID:28087566|PMID:28166282|PMID:28240702|PMID:28492532|PMID:28798025|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29907982|PMID:31568572|PMID:31898322|PMID:32746448|PMID:32897753|PMID:7737999|PMID:9536098|PMID:9683588 12022335 TGFB3 transforming growth factor beta 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:735686 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:23824657|PMID:23861362|PMID:24125834|PMID:24238504|PMID:24798638|PMID:25136781|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:25835445|PMID:26184463|PMID:26188975|PMID:27848944|PMID:28087566|PMID:28166282|PMID:28240702|PMID:28492532|PMID:28798025|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29907982|PMID:31568572|PMID:31898322|PMID:32746448|PMID:32897753|PMID:34659991|PMID:7737999|PMID:9536098|PMID:9683588 12022335 TGFB3 transforming growth factor beta 3 gene DOID:219 colon cancer disease_progression ISO RGD:735686 D RGD:9068941 20200609 RGD PMID:18360718|REF_RGD_ID:13432091 12022335 TGFB3 transforming growth factor beta 3 gene DOID:3498 pancreatic ductal adenocarcinoma ameliorates ISO RGD:735686 D RGD:9068941 20221027 RGD protein:decreased expression:pancreas (human) PMID:8253361|REF_RGD_ID:155630628 12022335 TGFB3 transforming growth factor beta 3 gene DOID:630 genetic disease ISO RGD:735686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12022335 TGFB3 transforming growth factor beta 3 gene DOID:674 cleft palate ISO RGD:733158 D RGD:9068941 20200609 RGD PMID:17097601|REF_RGD_ID:12801424 12022335 TGFB3 transforming growth factor beta 3 gene DOID:674 cleft palate ISO RGD:735686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26971374|PMID:7493022 12022335 TGFB3 transforming growth factor beta 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12022335 TGFB3 transforming growth factor beta 3 gene DOID:9001600 Wounds and Injuries ISO RGD:3851 D RGD:9068941 20200609 RGD PMID:18205704|REF_RGD_ID:2292158 12022335 TGFB3 transforming growth factor beta 3 gene DOID:9006836 Contracture ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 12022335 TGFB3 transforming growth factor beta 3 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction 12022335 TGFB3 transforming growth factor beta 3 gene DOID:9007870 Respiratory System Abnormalities ISO RGD:735686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7493022 12022335 TGFB3 transforming growth factor beta 3 gene DOID:9008582 Developmental Disease ISO RGD:735686 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:25835445|PMID:26188975|PMID:28492532|PMID:31898322 12022335 TGFB3 transforming growth factor beta 3 gene DOID:9256 colorectal cancer treatment ISO RGD:735686 D RGD:9068941 20200609 RGD PMID:12778073|REF_RGD_ID:13432088 12022335 TGFB3 transforming growth factor beta 3 gene DOID:9743 diabetic neuropathy ISO RGD:3851 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:sciatic nerve PMID:18406405|REF_RGD_ID:2302086 12022346 G6PC3 glucose-6-phosphatase catalytic subunit 3 gene DOID:0050590 severe congenital neutropenia ISO RGD:735418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe congenital neutropenia 12022346 G6PC3 glucose-6-phosphatase catalytic subunit 3 gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:735418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 12022346 G6PC3 glucose-6-phosphatase catalytic subunit 3 gene DOID:0080600 COVID-19 ISO RGD:735418 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12022346 G6PC3 glucose-6-phosphatase catalytic subunit 3 gene DOID:0112136 severe congenital neutropenia 4 ISO RGD:735418 D RGD:7240710 20180130 OMIM 12022346 G6PC3 glucose-6-phosphatase catalytic subunit 3 gene DOID:0112136 severe congenital neutropenia 4 ISO RGD:735418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency PMID:16199547|PMID:17576681|PMID:19011569|PMID:19118303|PMID:19775295|PMID:20616219|PMID:20717171|PMID:20799326|PMID:21285905|PMID:21385794|PMID:22050868|PMID:22469094|PMID:23171239|PMID:23180359|PMID:23298686|PMID:23441086|PMID:23758768|PMID:24033266|PMID:24549407|PMID:24750412|PMID:25284454|PMID:25326635|PMID:25391451|PMID:25491320|PMID:25492228|PMID:25741868|PMID:27571123|PMID:27577878|PMID:27611587|PMID:28492532|PMID:31564432|PMID:9536098 12022346 G6PC3 glucose-6-phosphatase catalytic subunit 3 gene DOID:612 primary immunodeficiency disease ISO RGD:735418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12022346 G6PC3 glucose-6-phosphatase catalytic subunit 3 gene DOID:630 genetic disease ISO RGD:735418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12022355 SCARF2 scavenger receptor class F member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1314385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12022355 SCARF2 scavenger receptor class F member 2 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1314385 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12022355 SCARF2 scavenger receptor class F member 2 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1314385 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12022355 SCARF2 scavenger receptor class F member 2 gene DOID:0111699 Van den Ende-Gupta syndrome ISO RGD:1314385 D RGD:7240710 20180130 OMIM 12022355 SCARF2 scavenger receptor class F member 2 gene DOID:0111699 Van den Ende-Gupta syndrome ISO RGD:1314385 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Van den Ende-Gupta syndrome PMID:20887961|PMID:21108395|PMID:23808541|PMID:24478002|PMID:25741868|PMID:28492532|PMID:33783941 12022355 SCARF2 scavenger receptor class F member 2 gene DOID:1059 intellectual disability ISO RGD:1314385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12022355 SCARF2 scavenger receptor class F member 2 gene DOID:10907 microcephaly ISO RGD:1314385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12022355 SCARF2 scavenger receptor class F member 2 gene DOID:11198 DiGeorge syndrome ISO RGD:1314385 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12022355 SCARF2 scavenger receptor class F member 2 gene DOID:11372 megacolon ISO RGD:1314385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12022355 SCARF2 scavenger receptor class F member 2 gene DOID:12583 velocardiofacial syndrome ISO RGD:1314385 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12022355 SCARF2 scavenger receptor class F member 2 gene DOID:12849 autistic disorder ISO RGD:1314385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12022355 SCARF2 scavenger receptor class F member 2 gene DOID:1826 epilepsy ISO RGD:1314385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12022355 SCARF2 scavenger receptor class F member 2 gene DOID:2213 hemorrhagic disease ISO RGD:1314385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 12022355 SCARF2 scavenger receptor class F member 2 gene DOID:5419 schizophrenia ISO RGD:1314385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12022355 SCARF2 scavenger receptor class F member 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1314385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12022355 SCARF2 scavenger receptor class F member 2 gene DOID:630 genetic disease ISO RGD:1314385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12022355 SCARF2 scavenger receptor class F member 2 gene DOID:9003871 Venous Thrombosis ISO RGD:1314385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 12022355 SCARF2 scavenger receptor class F member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12022355 SCARF2 scavenger receptor class F member 2 gene DOID:9007661 Dwarfism ISO RGD:1314385 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12022355 SCARF2 scavenger receptor class F member 2 gene DOID:9008964 Spermatogenic Failure 52 ISO RGD:12382097 D RGD:9068941 20230209 OMIA Van den Ende-Gupta syndrome PMID:27187611|PMID:27803843 12022375 NHLH1 nescient helix-loop-helix 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1321059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12022375 NHLH1 nescient helix-loop-helix 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1321059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12022375 NHLH1 nescient helix-loop-helix 1 gene DOID:630 genetic disease ISO RGD:1321059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022375 NHLH1 nescient helix-loop-helix 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12022381 PIAS1 protein inhibitor of activated STAT 1 gene DOID:12712 nephronophthisis ISO RGD:1317273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:26489029 12022381 PIAS1 protein inhibitor of activated STAT 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1307843 D RGD:9068941 20200609 RGD PMID:19350281|REF_RGD_ID:8693412 12022381 PIAS1 protein inhibitor of activated STAT 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1317273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12022381 PIAS1 protein inhibitor of activated STAT 1 gene DOID:2717 Bloom syndrome ISO RGD:1317273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12022381 PIAS1 protein inhibitor of activated STAT 1 gene DOID:37 skin disease ISO RGD:1317273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12022381 PIAS1 protein inhibitor of activated STAT 1 gene DOID:630 genetic disease ISO RGD:1317273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022381 PIAS1 protein inhibitor of activated STAT 1 gene DOID:9000998 Brain Injuries ISO RGD:1307843 D RGD:9068941 20200609 RGD protein:decreased expression:brain, nucleus PMID:21545521|REF_RGD_ID:8693413 12022381 PIAS1 protein inhibitor of activated STAT 1 gene DOID:9007964 Arsenic Poisoning ISO RGD:1317273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12022381 PIAS1 protein inhibitor of activated STAT 1 gene DOID:9256 colorectal cancer ISO RGD:1317273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12022400 SPG7 SPG7 matrix AAA peptidase subunit, paraplegin gene DOID:0110816 hereditary spastic paraplegia 7 ISO RGD:1551589 D RGD:9068941 20220825 MouseDO OMIM:607259 12022473 GPX7 glutathione peroxidase 7 gene DOID:630 genetic disease ISO RGD:1315932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022473 GPX7 glutathione peroxidase 7 gene DOID:7941 Barrett's adenocarcinoma ISO RGD:1315932 D RGD:9068941 20220630 RGD DNA:hypermethylation:promoter PMID:18664505|REF_RGD_ID:151665749 12022473 GPX7 glutathione peroxidase 7 gene DOID:9206 Barrett's esophagus ISO RGD:1315932 D RGD:9068941 20220630 RGD DNA:hypermethylation:promoter PMID:18664505|REF_RGD_ID:151665749 12022480 SLC25A53 solute carrier family 25 member 53 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12022480 SLC25A53 solute carrier family 25 member 53 gene DOID:12849 autistic disorder ISO RGD:1603463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12022480 SLC25A53 solute carrier family 25 member 53 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1603463 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:1720927|PMID:9633722|PMID:9634530 12022480 SLC25A53 solute carrier family 25 member 53 gene DOID:630 genetic disease ISO RGD:1603463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022498 MAGEA4 MAGE family member A4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12022498 MAGEA4 MAGE family member A4 gene DOID:12849 autistic disorder ISO RGD:1353714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12022498 MAGEA4 MAGE family member A4 gene DOID:630 genetic disease ISO RGD:1353714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022517 NMBR neuromedin B receptor gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:731785 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12022517 NMBR neuromedin B receptor gene DOID:630 genetic disease ISO RGD:731785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022517 NMBR neuromedin B receptor gene DOID:9008939 Breast Neoplasms ISO RGD:731785 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24349381 12022528 TIAM2 TIAM Rac1 associated GEF 2 gene DOID:303 substance-related disorder ISO RGD:1345903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12022528 TIAM2 TIAM Rac1 associated GEF 2 gene DOID:630 genetic disease ISO RGD:1345903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022571 IMPA1 inositol monophosphatase 1 gene DOID:0081221 autosomal recessive intellectual developmental disorder 59 ISO RGD:737559 D RGD:7240710 20200610 OMIM 12022571 IMPA1 inositol monophosphatase 1 gene DOID:0081221 autosomal recessive intellectual developmental disorder 59 ISO RGD:737559 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 59 PMID:25741868|PMID:26416544|PMID:32839513 12022571 IMPA1 inositol monophosphatase 1 gene DOID:1059 intellectual disability ISO RGD:737559 D RGD:9068941 20210416 RGD DNA:frameshift mutation:CDS:c.489_493dupGGGCT (human) PMID:26416544|REF_RGD_ID:126781710 12022571 IMPA1 inositol monophosphatase 1 gene DOID:630 genetic disease ISO RGD:737559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12022571 IMPA1 inositol monophosphatase 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:737560 D RGD:9068941 20210416 RGD PMID:30604625|REF_RGD_ID:126781711 12022606 DUSP21 dual specificity phosphatase 21 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12022606 DUSP21 dual specificity phosphatase 21 gene DOID:0080006 bone development disease ISO RGD:1343692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 12022606 DUSP21 dual specificity phosphatase 21 gene DOID:12849 autistic disorder ISO RGD:1343692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12022606 DUSP21 dual specificity phosphatase 21 gene DOID:630 genetic disease ISO RGD:1343692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022606 DUSP21 dual specificity phosphatase 21 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12022606 DUSP21 dual specificity phosphatase 21 gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1343692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:22197486|PMID:23076834|PMID:23354975|PMID:23913813|PMID:25972376|PMID:28492532 12022611 TOMM34 translocase of outer mitochondrial membrane 34 gene DOID:2234 focal epilepsy ISO RGD:1319142 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12022611 TOMM34 translocase of outer mitochondrial membrane 34 gene DOID:630 genetic disease ISO RGD:1319142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022611 TOMM34 translocase of outer mitochondrial membrane 34 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1319142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12022622 CLIP3 CAP-Gly domain containing linker protein 3 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1603664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12022622 CLIP3 CAP-Gly domain containing linker protein 3 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1603664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12022622 CLIP3 CAP-Gly domain containing linker protein 3 gene DOID:630 genetic disease ISO RGD:1603664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022651 METRNL meteorin like, glial cell differentiation regulator gene DOID:10603 glucose intolerance ISO RGD:1348183 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30213948 12022651 METRNL meteorin like, glial cell differentiation regulator gene DOID:630 genetic disease ISO RGD:1348183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022651 METRNL meteorin like, glial cell differentiation regulator gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12022651 METRNL meteorin like, glial cell differentiation regulator gene DOID:9004657 Weight Gain ISO RGD:1348183 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30213948 12022651 METRNL meteorin like, glial cell differentiation regulator gene DOID:9007692 Insulin Resistance ISO RGD:1348183 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30213948 12022676 TTC31 tetratricopeptide repeat domain 31 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1605049 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12022676 TTC31 tetratricopeptide repeat domain 31 gene DOID:543 dystonia ISO RGD:1605049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12022676 TTC31 tetratricopeptide repeat domain 31 gene DOID:630 genetic disease ISO RGD:1605049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022676 TTC31 tetratricopeptide repeat domain 31 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1605049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12022703 MED26 mediator complex subunit 26 gene DOID:630 genetic disease ISO RGD:1352604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022710 CNIH3 cornichon family AMPA receptor auxiliary protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1343893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12022710 CNIH3 cornichon family AMPA receptor auxiliary protein 3 gene DOID:289 endometriosis ISO RGD:1343893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12022710 CNIH3 cornichon family AMPA receptor auxiliary protein 3 gene DOID:630 genetic disease ISO RGD:1343893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022710 CNIH3 cornichon family AMPA receptor auxiliary protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12022720 CPA3 carboxypeptidase A3 gene DOID:0050579 glycogen storage disease XV ISO RGD:733833 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 12022720 CPA3 carboxypeptidase A3 gene DOID:0080600 COVID-19 ISO RGD:733833 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12022720 CPA3 carboxypeptidase A3 gene DOID:630 genetic disease ISO RGD:733833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022735 BCL6B BCL6B transcription repressor gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1349060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12022735 BCL6B BCL6B transcription repressor gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1349060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 12022735 BCL6B BCL6B transcription repressor gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1349060 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12022735 BCL6B BCL6B transcription repressor gene DOID:12177 common variable immunodeficiency ISO RGD:1349060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12022735 BCL6B BCL6B transcription repressor gene DOID:2729 dyskeratosis congenita ISO RGD:1349060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12022735 BCL6B BCL6B transcription repressor gene DOID:630 genetic disease ISO RGD:1349060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022788 HSF1 heat shock transcription factor 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:730995 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24256636 12022788 HSF1 heat shock transcription factor 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:730995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12022788 HSF1 heat shock transcription factor 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:730995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12022788 HSF1 heat shock transcription factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:620913 D RGD:9068941 20200609 RGD protein:decreased expression:cerebellum (rat) PMID:23665061|REF_RGD_ID:10402771 12022788 HSF1 heat shock transcription factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:730996 D RGD:9068941 20200609 RGD protein:altered localization:promoter (mouse) PMID:24849358|REF_RGD_ID:10402385 12022788 HSF1 heat shock transcription factor 1 gene DOID:11383 cryptorchidism ISO RGD:620913 D RGD:9068941 20200609 RGD protein:increased expression:testis, spermatocyte, nucleus (rat) PMID:21480429|REF_RGD_ID:10402945 12022788 HSF1 heat shock transcription factor 1 gene DOID:12858 Huntington's disease ISO RGD:730995 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:16051598|REF_RGD_ID:10402372 12022788 HSF1 heat shock transcription factor 1 gene DOID:12858 Huntington's disease ISO RGD:730996 D RGD:9068941 20200609 RGD protein:decreased expression:liver (mouse) PMID:19443488|REF_RGD_ID:10402387 12022788 HSF1 heat shock transcription factor 1 gene DOID:12858 Huntington's disease treatment ISO RGD:730996 D RGD:9068941 20200609 RGD PMID:24381308|REF_RGD_ID:10402386 12022788 HSF1 heat shock transcription factor 1 gene DOID:14330 Parkinson's disease ISO RGD:620913 D RGD:9068941 20200609 RGD protein:decreased expression:midbrain (rat) PMID:24296154|REF_RGD_ID:10402753 12022788 HSF1 heat shock transcription factor 1 gene DOID:14330 Parkinson's disease treatment ISO RGD:620913 D RGD:9068941 20200609 RGD PMID:24852355|REF_RGD_ID:10402545 12022788 HSF1 heat shock transcription factor 1 gene DOID:14566 disease of cellular proliferation ISO RGD:730995 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22885793 12022788 HSF1 heat shock transcription factor 1 gene DOID:224 transient cerebral ischemia ISO RGD:620913 D RGD:9068941 20200609 RGD protein:increased expression:brain, nucleus (rat) PMID:26070787|REF_RGD_ID:10402389 12022788 HSF1 heat shock transcription factor 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:620913 D RGD:9068941 20200609 RGD associated with Heart Arrest PMID:23528677|REF_RGD_ID:10402772 12022788 HSF1 heat shock transcription factor 1 gene DOID:4621 holoprosencephaly ISO RGD:730995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12022788 HSF1 heat shock transcription factor 1 gene DOID:6000 congestive heart failure ISO RGD:620913 D RGD:9068941 20200609 RGD protein:altered localization:heart left ventricle (rat) PMID:24285117|REF_RGD_ID:10402754 12022788 HSF1 heat shock transcription factor 1 gene DOID:630 genetic disease ISO RGD:730995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022788 HSF1 heat shock transcription factor 1 gene DOID:767 muscular atrophy treatment ISO RGD:620913 D RGD:9068941 20200609 RGD PMID:21983076|REF_RGD_ID:10402941 12022788 HSF1 heat shock transcription factor 1 gene DOID:9000099 Experimental Colitis ISO RGD:620913 D RGD:9068941 20200609 RGD protein:increased acetylation:colon (rat) PMID:25608526|REF_RGD_ID:10402402 12022788 HSF1 heat shock transcription factor 1 gene DOID:9000972 Fever ISO RGD:620913 D RGD:9068941 20200609 RGD associated with Endotoxemia;protein:altered localization:preoptic area, anterior hypothalamus, nucleus (rat) PMID:22427437|REF_RGD_ID:10402781 12022788 HSF1 heat shock transcription factor 1 gene DOID:9002395 Hypothermia ISO RGD:620913 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland ventral lobe (rat) PMID:25996932|REF_RGD_ID:10402397 12022788 HSF1 heat shock transcription factor 1 gene DOID:9002669 Hypoxia ISO RGD:620913 D RGD:9068941 20200609 RGD protein:increased expression:gastric mucosa (rat) PMID:22156356|REF_RGD_ID:10402813 12022788 HSF1 heat shock transcription factor 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:620913 D RGD:9068941 20200609 RGD PMID:25804640|REF_RGD_ID:10402399 12022788 HSF1 heat shock transcription factor 1 gene DOID:9004562 Smoke Inhalation Injury treatment ISO RGD:620913 D RGD:9068941 20200609 RGD PMID:23499678|REF_RGD_ID:10402773 12022788 HSF1 heat shock transcription factor 1 gene DOID:9004649 Heat Stroke treatment ISO RGD:620913 D RGD:9068941 20200609 RGD PMID:23219797|REF_RGD_ID:10402774 12022788 HSF1 heat shock transcription factor 1 gene DOID:9005930 Endotoxemia treatment ISO RGD:620913 D RGD:9068941 20200609 RGD PMID:25571843|REF_RGD_ID:10402404 12022788 HSF1 heat shock transcription factor 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:620913 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:23102208|REF_RGD_ID:10402775 12022788 HSF1 heat shock transcription factor 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:730996 D RGD:9068941 20200609 RGD PMID:22426029|REF_RGD_ID:10402789 12022788 HSF1 heat shock transcription factor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730996 D RGD:9068941 20200609 RGD protein:increased expression:heart (mouse) PMID:24496227|REF_RGD_ID:10402557 12022804 CLPTM1 CLPTM1 regulator of GABA type A receptor forward trafficking gene DOID:1793 pancreatic cancer ISO RGD:1322154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098869 12022804 CLPTM1 CLPTM1 regulator of GABA type A receptor forward trafficking gene DOID:630 genetic disease ISO RGD:1322154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022849 AIF1L allograft inflammatory factor 1 like gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1312901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12022849 AIF1L allograft inflammatory factor 1 like gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1312901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 12022849 AIF1L allograft inflammatory factor 1 like gene DOID:1612 breast cancer severity ISO RGD:1312901 D RGD:9068941 20200609 RGD PMID:30233209|REF_RGD_ID:13842475 12022849 AIF1L allograft inflammatory factor 1 like gene DOID:630 genetic disease ISO RGD:1312901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022858 MRPS2 mitochondrial ribosomal protein S2 gene DOID:0050777 Joubert syndrome ISO RGD:1319275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12022858 MRPS2 mitochondrial ribosomal protein S2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1319275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 12022858 MRPS2 mitochondrial ribosomal protein S2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1319275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12022858 MRPS2 mitochondrial ribosomal protein S2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1319275 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12022858 MRPS2 mitochondrial ribosomal protein S2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1319275 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12022858 MRPS2 mitochondrial ribosomal protein S2 gene DOID:0081097 Rafiq syndrome ISO RGD:1319275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12022858 MRPS2 mitochondrial ribosomal protein S2 gene DOID:0111482 combined oxidative phosphorylation deficiency 36 ISO RGD:1319275 D RGD:7240710 20190315 OMIM 12022858 MRPS2 mitochondrial ribosomal protein S2 gene DOID:0111482 combined oxidative phosphorylation deficiency 36 ISO RGD:1319275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 36 PMID:25741868|PMID:28492532|PMID:29576219 12022858 MRPS2 mitochondrial ribosomal protein S2 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1319275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 12022858 MRPS2 mitochondrial ribosomal protein S2 gene DOID:3652 Leigh disease ISO RGD:1319275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12022858 MRPS2 mitochondrial ribosomal protein S2 gene DOID:630 genetic disease ISO RGD:1319275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12022858 MRPS2 mitochondrial ribosomal protein S2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1319275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 12022866 SARS1 seryl-tRNA synthetase 1 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1348583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 12022866 SARS1 seryl-tRNA synthetase 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1348583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12022866 SARS1 seryl-tRNA synthetase 1 gene DOID:10286 prostate carcinoma ISO RGD:1348583 D RGD:9068941 20210212 RGD mRNA:decreased expression:prostate gland (human) PMID:26317032|REF_RGD_ID:41410436 12022866 SARS1 seryl-tRNA synthetase 1 gene DOID:1059 intellectual disability ISO RGD:1348583 D RGD:9068941 20210212 RGD protein:missense mutation:CDS:p.D172N (human) PMID:28236339|REF_RGD_ID:41410435 12022866 SARS1 seryl-tRNA synthetase 1 gene DOID:12849 autistic disorder ISO RGD:1348583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12022866 SARS1 seryl-tRNA synthetase 1 gene DOID:3393 coronary artery disease ISO RGD:1552505 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 12022866 SARS1 seryl-tRNA synthetase 1 gene DOID:9005140 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES ISO RGD:1348583 D RGD:7240710 20190315 OMIM 12022866 SARS1 seryl-tRNA synthetase 1 gene DOID:9005140 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES ISO RGD:1348583 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, ataxia, and seizures PMID:25741868|PMID:28236339|PMID:34570399|PMID:35790048 12022866 SARS1 seryl-tRNA synthetase 1 gene DOID:9005811 HUPRA Syndrome ISO RGD:1348583 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME PMID:25741868|PMID:28492532 12022885 ADIG adipogenin gene DOID:2234 focal epilepsy ISO RGD:1606699 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12022885 ADIG adipogenin gene DOID:630 genetic disease ISO RGD:1606699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022893 PTPN2 protein tyrosine phosphatase non-receptor type 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:733575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12022893 PTPN2 protein tyrosine phosphatase non-receptor type 2 gene DOID:1059 intellectual disability ISO RGD:733575 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12022893 PTPN2 protein tyrosine phosphatase non-receptor type 2 gene DOID:10591 pre-eclampsia disease_progression ISO RGD:733575 D RGD:9068941 20220930 RGD mRNA:decreased expression:placenta (human) PMID:27746364|REF_RGD_ID:155260325 12022893 PTPN2 protein tyrosine phosphatase non-receptor type 2 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:733575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20473312 12022893 PTPN2 protein tyrosine phosphatase non-receptor type 2 gene DOID:630 genetic disease ISO RGD:733575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022893 PTPN2 protein tyrosine phosphatase non-receptor type 2 gene DOID:7148 rheumatoid arthritis ISO RGD:733575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 12022893 PTPN2 protein tyrosine phosphatase non-receptor type 2 gene DOID:8577 ulcerative colitis ISO RGD:733575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438405 12022893 PTPN2 protein tyrosine phosphatase non-receptor type 2 gene DOID:8778 Crohn's disease ISO RGD:733575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17554261 12022921 LIG1 DNA ligase 1 gene DOID:11054 urinary bladder cancer ISO RGD:731763 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8631603 12022921 LIG1 DNA ligase 1 gene DOID:612 primary immunodeficiency disease ISO RGD:731763 D RGD:9068941 20200609 RGD DNA ligase I deficiency PMID:1351188|REF_RGD_ID:1600089 12022921 LIG1 DNA ligase 1 gene DOID:630 genetic disease ISO RGD:731763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12022921 LIG1 DNA ligase 1 gene DOID:655 inherited metabolic disorder ISO RGD:731763 D RGD:9068941 20200609 RGD DNA ligase I deficiency PMID:1351188|REF_RGD_ID:1600089 12022921 LIG1 DNA ligase 1 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:621424 D RGD:9068941 20200609 RGD PMID:30813600|REF_RGD_ID:14995940 12022921 LIG1 DNA ligase 1 gene DOID:9000296 Immunodeficiency 96 ISO RGD:731763 D RGD:7240710 20220316 OMIM 12022921 LIG1 DNA ligase 1 gene DOID:9000296 Immunodeficiency 96 ISO RGD:731763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 96 PMID:1581963|PMID:17576681|PMID:19223467|PMID:25741868|PMID:28492532|PMID:30395541|PMID:32888943|PMID:32914844|PMID:33444456|PMID:33600799|PMID:9536098 12022967 GRK4 G protein-coupled receptor kinase 4 gene DOID:10825 essential hypertension susceptibility ISO RGD:1606583 D RGD:9068941 20200609 RGD DNA:SNP,haplotypes:cds: PMID:15097232|REF_RGD_ID:1598505 12022967 GRK4 G protein-coupled receptor kinase 4 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1606583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 12022967 GRK4 G protein-coupled receptor kinase 4 gene DOID:1856 cherubism ISO RGD:1606583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12022967 GRK4 G protein-coupled receptor kinase 4 gene DOID:630 genetic disease ISO RGD:1606583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022967 GRK4 G protein-coupled receptor kinase 4 gene DOID:9002165 Diabetic Nephropathies ISO RGD:61858 D RGD:9068941 20200609 RGD protein:decreased expression:cortex of kidney (rat) PMID:23196710|REF_RGD_ID:13792785 12022967 GRK4 G protein-coupled receptor kinase 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1606583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12022987 LSMEM1 leucine rich single-pass membrane protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12022987 LSMEM1 leucine rich single-pass membrane protein 1 gene DOID:5419 schizophrenia ISO RGD:1606916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12022987 LSMEM1 leucine rich single-pass membrane protein 1 gene DOID:630 genetic disease ISO RGD:1606916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022987 LSMEM1 leucine rich single-pass membrane protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12022995 PLAGL1 PLAG1 like zinc finger 1 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:736872 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:28492532 12022995 PLAGL1 PLAG1 like zinc finger 1 gene DOID:2661 myoepithelioma ISO RGD:736872 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12022995 PLAGL1 PLAG1 like zinc finger 1 gene DOID:630 genetic disease ISO RGD:736872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12022995 PLAGL1 PLAG1 like zinc finger 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:736872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12023036 NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1601767 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:19463981|PMID:24033266|PMID:25741868 12023036 NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 gene DOID:0080600 COVID-19 ISO RGD:1601767 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12023036 NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 gene DOID:0112070 nuclear type mitochondrial complex I deficiency 18 ISO RGD:1601767 D RGD:7240710 20190315 OMIM 12023036 NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 gene DOID:0112070 nuclear type mitochondrial complex I deficiency 18 ISO RGD:1601767 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 PMID:19463981|PMID:25741868|PMID:27986404|PMID:28492532|PMID:34656053 12023036 NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1601767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 12023036 NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 gene DOID:630 genetic disease ISO RGD:1601767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:34656053 12023036 NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1601767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12023036 NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1601767 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12023048 SLC37A3 solute carrier family 37 member 3 gene DOID:0080690 RASopathy ISO RGD:1321198 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12023048 SLC37A3 solute carrier family 37 member 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12023048 SLC37A3 solute carrier family 37 member 3 gene DOID:630 genetic disease ISO RGD:1321198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12023076 TICRR TOPBP1 interacting checkpoint and replication regulator gene DOID:0080600 COVID-19 ISO RGD:1602448 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12023076 TICRR TOPBP1 interacting checkpoint and replication regulator gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1602448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12023076 TICRR TOPBP1 interacting checkpoint and replication regulator gene DOID:2717 Bloom syndrome ISO RGD:1602448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12023076 TICRR TOPBP1 interacting checkpoint and replication regulator gene DOID:630 genetic disease ISO RGD:1602448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12023076 TICRR TOPBP1 interacting checkpoint and replication regulator gene DOID:684 hepatocellular carcinoma ISO RGD:1602448 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12023076 TICRR TOPBP1 interacting checkpoint and replication regulator gene DOID:9250 acrocallosal syndrome ISO RGD:1602448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acrocallosal syndrome 12023076 TICRR TOPBP1 interacting checkpoint and replication regulator gene DOID:9256 colorectal cancer ISO RGD:1602448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12023116 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0050777 Joubert syndrome ISO RGD:733597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12023116 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:733597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 12023116 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:733597 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 12023116 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:733597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12023116 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:733597 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12023116 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0081097 Rafiq syndrome ISO RGD:733597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12023116 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:733597 D RGD:9068941 20200609 RGD DNA:deletion:intron:c.1159-14_-22del (human) PMID:17235395|REF_RGD_ID:11567265 12023116 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0090085 hypogonadotropic hypogonadism 9 with or without anosmia ISO RGD:733597 D RGD:7240710 20180130 OMIM 12023116 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0090085 hypogonadotropic hypogonadism 9 with or without anosmia ISO RGD:733597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 9 with or without anosmia PMID:15362570|PMID:17235395|PMID:21700882|PMID:25741868 12023116 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:1826 epilepsy ISO RGD:733597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12023116 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:305 carcinoma ISO RGD:733597 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12023116 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:630 genetic disease ISO RGD:733597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12023116 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733597 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12023116 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733597 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12023116 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:733597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 12023116 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733597 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12023116 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:733597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12023148 FGF9 fibroblast growth factor 9 gene DOID:0050794 multiple synostoses syndrome ISO RGD:10579 D RGD:9068941 20220825 MouseDO OMIM:186500 | OMIM:610017 | OMIM:612961 12023148 FGF9 fibroblast growth factor 9 gene DOID:0081317 multiple synostoses syndrome 1 ISO RGD:735806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome 12023148 FGF9 fibroblast growth factor 9 gene DOID:0081319 multiple synostoses syndrome 3 ISO RGD:735806 D RGD:7240710 20180130 OMIM 12023148 FGF9 fibroblast growth factor 9 gene DOID:0081319 multiple synostoses syndrome 3 ISO RGD:735806 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Multiple synostoses syndrome 3 PMID:19589401|PMID:25741868|PMID:28492532|PMID:28730625|PMID:36980996 12023148 FGF9 fibroblast growth factor 9 gene DOID:1324 lung cancer ISO RGD:10579 D RGD:9068941 20220825 MouseDO OMIM:211980 | OMIM:608935 | OMIM:612571 | OMIM:612593 | OMIM:614210 12023148 FGF9 fibroblast growth factor 9 gene DOID:1790 malignant mesothelioma ISO RGD:735806 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 12023148 FGF9 fibroblast growth factor 9 gene DOID:263 kidney cancer ameliorates ISO RGD:735806 D RGD:9068941 20220526 RGD human gene in mouse model PMID:26183774|REF_RGD_ID:152600905 12023148 FGF9 fibroblast growth factor 9 gene DOID:299 adenocarcinoma ISO RGD:735806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20464547 12023148 FGF9 fibroblast growth factor 9 gene DOID:3907 lung squamous cell carcinoma ISO RGD:735806 D RGD:9068941 20220520 RGD mRNA:decreased expression:lung (human) PMID:28440022|REF_RGD_ID:152180844 12023148 FGF9 fibroblast growth factor 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19358281 12023148 FGF9 fibroblast growth factor 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735806 D RGD:9068941 20220520 RGD mRNA:increased expression:lung (human) PMID:31884893|REF_RGD_ID:152177912 12023148 FGF9 fibroblast growth factor 9 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:735806 D RGD:9068941 20220519 RGD mRNA:increased expression:lung (human) PMID:24239165|REF_RGD_ID:152177524 12023148 FGF9 fibroblast growth factor 9 gene DOID:3910 lung adenocarcinoma ISO RGD:735806 D RGD:9068941 20220519 RGD protein:increased expression:lung (human) PMID:19358281|REF_RGD_ID:152177688 12023148 FGF9 fibroblast growth factor 9 gene DOID:3910 lung adenocarcinoma ISO RGD:735806 D RGD:9068941 20220520 RGD mRNA:decreased expression:lung (human) PMID:19296538|REF_RGD_ID:150429981 12023148 FGF9 fibroblast growth factor 9 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:735806 D RGD:9068941 20220526 RGD protein:increased expression:lung (human) PMID:20464547|REF_RGD_ID:152975620 12023148 FGF9 fibroblast growth factor 9 gene DOID:4769 pleuropulmonary blastoma ISO RGD:10579 D RGD:9068941 20220825 MouseDO OMIM:601200 12023148 FGF9 fibroblast growth factor 9 gene DOID:630 genetic disease ISO RGD:735806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12023148 FGF9 fibroblast growth factor 9 gene DOID:674 cleft palate ISO RGD:735806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 12023148 FGF9 fibroblast growth factor 9 gene DOID:9005172 Lung Neoplasms ISO RGD:735806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20464547 12023148 FGF9 fibroblast growth factor 9 gene DOID:9296 cleft lip ISO RGD:735806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 12023155 CLRN2 clarin 2 gene DOID:630 genetic disease ISO RGD:2291757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12023155 CLRN2 clarin 2 gene DOID:9000321 Autosomal Recessive Nonsyndromic Deafness 117 ISO RGD:2291757 D RGD:7240710 20210303 OMIM 12023155 CLRN2 clarin 2 gene DOID:9000321 Autosomal Recessive Nonsyndromic Deafness 117 ISO RGD:2291757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 117 PMID:25741868|PMID:33496845 12023164 ACIN1 apoptotic chromatin condensation inducer 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1323663 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12023164 ACIN1 apoptotic chromatin condensation inducer 1 gene DOID:630 genetic disease ISO RGD:1323663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12023164 ACIN1 apoptotic chromatin condensation inducer 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1323663 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12023164 ACIN1 apoptotic chromatin condensation inducer 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1323663 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12023211 RAB5B RAB5B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1315136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12023211 RAB5B RAB5B, member RAS oncogene family gene DOID:9001026 Pulmonary Surfactant Metabolism Dysfunction 1 ISO RGD:1315136 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: RAB5B-associated surfactant dysfunction disorder PMID:25741868|PMID:35121658 12023227 LOC100984043 zinc finger protein 582 gene DOID:630 genetic disease ISO RGD:1353424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12023245 EIF5A eukaryotic translation initiation factor 5A gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1317562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12023245 EIF5A eukaryotic translation initiation factor 5A gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1317562 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12023245 EIF5A eukaryotic translation initiation factor 5A gene DOID:1059 intellectual disability ISO RGD:1317562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12023245 EIF5A eukaryotic translation initiation factor 5A gene DOID:12177 common variable immunodeficiency ISO RGD:1317562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12023245 EIF5A eukaryotic translation initiation factor 5A gene DOID:2729 dyskeratosis congenita ISO RGD:1317562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12023245 EIF5A eukaryotic translation initiation factor 5A gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1317562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12023245 EIF5A eukaryotic translation initiation factor 5A gene DOID:305 carcinoma ISO RGD:1317562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12023245 EIF5A eukaryotic translation initiation factor 5A gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1317562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 12023245 EIF5A eukaryotic translation initiation factor 5A gene DOID:630 genetic disease ISO RGD:1317562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12023245 EIF5A eukaryotic translation initiation factor 5A gene DOID:9000039 Spinal Cord Injuries ISO RGD:1308029 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:gastrocnemius PMID:23238062|REF_RGD_ID:10395360 12023245 EIF5A eukaryotic translation initiation factor 5A gene DOID:9000058 Keloid ISO RGD:1317562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12023245 EIF5A eukaryotic translation initiation factor 5A gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1317562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12023245 EIF5A eukaryotic translation initiation factor 5A gene DOID:9003915 Faundes-Banka Syndrome ISO RGD:1317562 D RGD:7240710 20210616 OMIM 12023245 EIF5A eukaryotic translation initiation factor 5A gene DOID:9003915 Faundes-Banka Syndrome ISO RGD:1317562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Faundes-Banka syndrome PMID:25741868|PMID:33547280 12023245 EIF5A eukaryotic translation initiation factor 5A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12023245 EIF5A eukaryotic translation initiation factor 5A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1317562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12023245 EIF5A eukaryotic translation initiation factor 5A gene DOID:9256 colorectal cancer disease_progression ISO RGD:1317562 D RGD:9068941 20220224 RGD PMID:23322277|REF_RGD_ID:151356994 12023286 ELMOD2 ELMO domain containing 2 gene DOID:2843 long QT syndrome ISO RGD:1352550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12023286 ELMOD2 ELMO domain containing 2 gene DOID:630 genetic disease ISO RGD:1352550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12023302 FNDC10 fibronectin type III domain containing 10 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:6480141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12023302 FNDC10 fibronectin type III domain containing 10 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:6480141 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12023302 FNDC10 fibronectin type III domain containing 10 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:6480141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12023302 FNDC10 fibronectin type III domain containing 10 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:6480141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12023302 FNDC10 fibronectin type III domain containing 10 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:6480141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12023302 FNDC10 fibronectin type III domain containing 10 gene DOID:0110994 Joubert syndrome 25 ISO RGD:6480141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12023302 FNDC10 fibronectin type III domain containing 10 gene DOID:0111934 immunodeficiency 38 ISO RGD:6480141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12023302 FNDC10 fibronectin type III domain containing 10 gene DOID:0111935 immunodeficiency 16 ISO RGD:6480141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12023302 FNDC10 fibronectin type III domain containing 10 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:6480141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12023302 FNDC10 fibronectin type III domain containing 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:6480141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12023302 FNDC10 fibronectin type III domain containing 10 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:6480141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12023302 FNDC10 fibronectin type III domain containing 10 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:6480141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12023306 RHOB ras homolog family member B gene DOID:0080600 COVID-19 ISO RGD:1351195 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12023306 RHOB ras homolog family member B gene DOID:1612 breast cancer severity ISO RGD:1351195 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:12237774|REF_RGD_ID:2298874 12023306 RHOB ras homolog family member B gene DOID:1909 melanoma ISO RGD:621309 D RGD:9068941 20200609 RGD PMID:12606940|REF_RGD_ID:704376 12023306 RHOB ras homolog family member B gene DOID:1969 cerebral palsy ISO RGD:1351195 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: RHOB-related disorder PMID:25741868|PMID:32989326 12023306 RHOB ras homolog family member B gene DOID:418 systemic scleroderma ISO RGD:1351195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21750679 12023306 RHOB ras homolog family member B gene DOID:4989 pancreatitis ISO RGD:1351195 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Recurrent pancreatitis PMID:25741868|PMID:32989326 12023306 RHOB ras homolog family member B gene DOID:630 genetic disease ISO RGD:1351195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32989326 12023306 RHOB ras homolog family member B gene DOID:9001962 Avian Sarcoma ISO RGD:621309 D RGD:9068941 20200609 RGD PMID:1710770|REF_RGD_ID:704375 12023311 IRAG1 inositol 1,4,5-triphosphate receptor associated 1 gene DOID:630 genetic disease ISO RGD:1320377 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12023355 ADK adenosine kinase gene DOID:0060180 colitis ISO RGD:10091 D RGD:9068941 20200609 RGD PMID:11123368|REF_RGD_ID:6482664 12023355 ADK adenosine kinase gene DOID:0111038 hypermethioninemia due to adenosine kinase deficiency ISO RGD:737582 D RGD:7240710 20180130 OMIM 12023355 ADK adenosine kinase gene DOID:0111038 hypermethioninemia due to adenosine kinase deficiency ISO RGD:737582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8 PMID:21963049|PMID:25741868|PMID:26975589|PMID:28492532 12023355 ADK adenosine kinase gene DOID:1059 intellectual disability ISO RGD:737582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12023355 ADK adenosine kinase gene DOID:14115 toxic shock syndrome ISO RGD:10091 D RGD:9068941 20200609 RGD PMID:8207212|REF_RGD_ID:6482670 12023355 ADK adenosine kinase gene DOID:2316 brain ischemia ISO RGD:10091 D RGD:9068941 20200609 RGD PMID:17457365|PMID:21427729|REF_RGD_ID:6482652|REF_RGD_ID:6482655 12023355 ADK adenosine kinase gene DOID:3328 temporal lobe epilepsy ISO RGD:2046 D RGD:9068941 20200609 RGD PMID:21635241|REF_RGD_ID:6482302 12023355 ADK adenosine kinase gene DOID:3328 temporal lobe epilepsy ISO RGD:737582 D RGD:9068941 20200609 RGD PMID:21635241|REF_RGD_ID:6482302 12023355 ADK adenosine kinase gene DOID:3454 brain infarction ISO RGD:10091 D RGD:9068941 20200609 RGD PMID:16685255|REF_RGD_ID:6482657 12023355 ADK adenosine kinase gene DOID:3454 brain infarction ISO RGD:2046 D RGD:9068941 20200609 RGD PMID:9731623|REF_RGD_ID:6482667 12023355 ADK adenosine kinase gene DOID:630 genetic disease ISO RGD:737582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12023355 ADK adenosine kinase gene DOID:9002211 Hyperalgesia ISO RGD:2046 D RGD:9068941 20200609 RGD PMID:11423084|REF_RGD_ID:6482662 12023355 ADK adenosine kinase gene DOID:9002211 Hyperalgesia ISO RGD:2046 D RGD:9068941 20200609 RGD associated with diabetic neuropathies; PMID:9932716|REF_RGD_ID:6482666 12023355 ADK adenosine kinase gene DOID:9002457 Experimental Arthritis ISO RGD:2046 D RGD:9068941 20200609 RGD PMID:11160636|REF_RGD_ID:6482663 12023355 ADK adenosine kinase gene DOID:9002669 Hypoxia ISO RGD:737582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 12023355 ADK adenosine kinase gene DOID:9003574 Congenital Visceral Steatosis ISO RGD:10091 D RGD:9068941 20200609 RGD PMID:11997462|REF_RGD_ID:1300259 12023355 ADK adenosine kinase gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2046 D RGD:9068941 20220616 RGD protein:decreased expression:brain: PMID:25720338|REF_RGD_ID:152995398 12023355 ADK adenosine kinase gene DOID:9005520 Genitopatellar Syndrome ISO RGD:737582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:22077973|PMID:23436491|PMID:25424711|PMID:27880066|PMID:28492532 12023355 ADK adenosine kinase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2046 D RGD:9068941 20200609 RGD protein:decreased expression:spleen, lymphocyte PMID:12729803|REF_RGD_ID:2313360 12023355 ADK adenosine kinase gene DOID:9006024 Hypotension ISO RGD:2046 D RGD:9068941 20200609 RGD PMID:9435554|REF_RGD_ID:6482668 12023355 ADK adenosine kinase gene DOID:9007402 Gliosis ISO RGD:10091 D RGD:9068941 20200609 RGD associated with status epilepticus;protein:increased expression:brain PMID:21964979|REF_RGD_ID:6482650 12023355 ADK adenosine kinase gene DOID:9008023 Memory Disorders ISO RGD:10091 D RGD:9068941 20200609 RGD PMID:22521820|REF_RGD_ID:6482646 12023355 ADK adenosine kinase gene DOID:9452 fatty liver disease ISO RGD:10091 D RGD:9068941 20220825 MouseDO OMIM:228100 12023378 ZMYND15 zinc finger MYND-type containing 15 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1320408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 12023378 ZMYND15 zinc finger MYND-type containing 15 gene DOID:0070179 spermatogenic failure 14 ISO RGD:1320408 D RGD:7240710 20180130 OMIM 12023378 ZMYND15 zinc finger MYND-type containing 15 gene DOID:0070179 spermatogenic failure 14 ISO RGD:1320408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 14 PMID:33169450 12023378 ZMYND15 zinc finger MYND-type containing 15 gene DOID:12336 male infertility ISO RGD:1320408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 12023378 ZMYND15 zinc finger MYND-type containing 15 gene DOID:630 genetic disease ISO RGD:1320408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12023395 RBMXL2 RBMX like 2 gene DOID:630 genetic disease ISO RGD:1603656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12023421 EPHX2 epoxide hydrolase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:731054 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:30890645|PMID:35663546 12023421 EPHX2 epoxide hydrolase 2 gene DOID:0060319 cardiac arrest ISO RGD:731055 D RGD:9068941 20200609 RGD PMID:17728042|REF_RGD_ID:5688386 12023421 EPHX2 epoxide hydrolase 2 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:731054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12023421 EPHX2 epoxide hydrolase 2 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:731054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12023421 EPHX2 epoxide hydrolase 2 gene DOID:10763 hypertension ISO RGD:620732 D RGD:9068941 20200609 RGD PMID:16157792|PMID:21720266|REF_RGD_ID:1580985|REF_RGD_ID:5688733 12023421 EPHX2 epoxide hydrolase 2 gene DOID:10763 hypertension ISO RGD:731055 D RGD:9068941 20200609 RGD PMID:11001943|PMID:19553349|REF_RGD_ID:1580987|REF_RGD_ID:5688730 12023421 EPHX2 epoxide hydrolase 2 gene DOID:10763 hypertension susceptibility ISO RGD:731054 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.K55R (human) PMID:20065888|REF_RGD_ID:5688727 12023421 EPHX2 epoxide hydrolase 2 gene DOID:13810 familial hypercholesterolemia ISO RGD:731054 D RGD:7240710 20180130 OMIM 12023421 EPHX2 epoxide hydrolase 2 gene DOID:13810 familial hypercholesterolemia ISO RGD:731054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:10862610|PMID:12522687|PMID:14673705|PMID:14732757|PMID:15845398|PMID:25741868 12023421 EPHX2 epoxide hydrolase 2 gene DOID:14330 Parkinson's disease no_association ISO RGD:731054 D RGD:9068941 20200609 RGD DNA:missense mutation, insertion:exons:p.R287Q (898G>A), p.S402_R403insR (1246_1247insTCG) (human) PMID:11692079|REF_RGD_ID:5688390 12023421 EPHX2 epoxide hydrolase 2 gene DOID:1936 atherosclerosis ISO RGD:731055 D RGD:9068941 20200609 RGD PMID:20224052|REF_RGD_ID:5688357 12023421 EPHX2 epoxide hydrolase 2 gene DOID:3021 acute kidney failure ISO RGD:731054 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26165641 12023421 EPHX2 epoxide hydrolase 2 gene DOID:3393 coronary artery disease ISO RGD:731054 D RGD:9068941 20200609 RGD PMID:14732757|REF_RGD_ID:1580982 12023421 EPHX2 epoxide hydrolase 2 gene DOID:3526 cerebral infarction ISO RGD:620732 D RGD:9068941 20200609 RGD PMID:16306811|REF_RGD_ID:1580986 12023421 EPHX2 epoxide hydrolase 2 gene DOID:5419 schizophrenia ISO RGD:731054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30890645 12023421 EPHX2 epoxide hydrolase 2 gene DOID:5844 myocardial infarction ISO RGD:731055 D RGD:9068941 20200609 RGD PMID:19716829|REF_RGD_ID:5688358 12023421 EPHX2 epoxide hydrolase 2 gene DOID:6000 congestive heart failure ISO RGD:731054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18443590 12023421 EPHX2 epoxide hydrolase 2 gene DOID:630 genetic disease ISO RGD:731054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12023421 EPHX2 epoxide hydrolase 2 gene DOID:6432 pulmonary hypertension ISO RGD:620732 D RGD:9068941 20200609 RGD PMID:19226702|REF_RGD_ID:5688731 12023421 EPHX2 epoxide hydrolase 2 gene DOID:783 end stage renal disease disease_progression ISO RGD:731055 D RGD:9068941 20200609 RGD PMID:20694143|REF_RGD_ID:5688726 12023421 EPHX2 epoxide hydrolase 2 gene DOID:9000146 Plaque, Atherosclerotic susceptibility ISO RGD:731054 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:exon, intron:p.R287Q, IVS11-883C>G (rs751141, rs721619) (human) PMID:16545818|REF_RGD_ID:5688389 12023421 EPHX2 epoxide hydrolase 2 gene DOID:9000528 Coronary Disease ISO RGD:731054 D RGD:9068941 20200609 RGD PMID:16595607|REF_RGD_ID:1580981 12023421 EPHX2 epoxide hydrolase 2 gene DOID:9000998 Brain Injuries ISO RGD:731055 D RGD:9068941 20200609 RGD PMID:21075124|REF_RGD_ID:5688356 12023421 EPHX2 epoxide hydrolase 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:731054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19834332 12023421 EPHX2 epoxide hydrolase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:731055 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21832210|REF_RGD_ID:5688728 12023421 EPHX2 epoxide hydrolase 2 gene DOID:9002211 Hyperalgesia ISO RGD:620732 D RGD:9068941 20200609 RGD PMID:16962614|REF_RGD_ID:5688387 12023421 EPHX2 epoxide hydrolase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:731055 D RGD:9068941 20200609 RGD PMID:19471280|REF_RGD_ID:5688359 12023421 EPHX2 epoxide hydrolase 2 gene DOID:9004610 Acute Lung Injury ISO RGD:620732 D RGD:9068941 20200609 RGD PMID:22051199|REF_RGD_ID:5688354 12023421 EPHX2 epoxide hydrolase 2 gene DOID:9005930 Endotoxemia ISO RGD:731055 D RGD:9068941 20200609 RGD PMID:19154430|REF_RGD_ID:5688360 12023421 EPHX2 epoxide hydrolase 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:620732 D RGD:9068941 20200609 RGD PMID:22007192|REF_RGD_ID:5688391 12023421 EPHX2 epoxide hydrolase 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:731054 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26165641 12023421 EPHX2 epoxide hydrolase 2 gene DOID:9007096 Stroke ISO RGD:620732 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:-255T>C, -111G>A, 25C>T (rat) PMID:18086949|REF_RGD_ID:5688363 12023421 EPHX2 epoxide hydrolase 2 gene DOID:9007096 Stroke susceptibility ISO RGD:731054 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS16 (rs2291635) (human) PMID:18323494|REF_RGD_ID:5688362 12023421 EPHX2 epoxide hydrolase 2 gene DOID:9007096 Stroke susceptibility ISO RGD:731054 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.K55R (human) PMID:20065888|REF_RGD_ID:5688727 12023421 EPHX2 epoxide hydrolase 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:731054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29298899 12023421 EPHX2 epoxide hydrolase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19834332 12023447 CLPB ClpB family mitochondrial disaggregase gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:731315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:19732866|PMID:22586289|PMID:28492532 12023447 CLPB ClpB family mitochondrial disaggregase gene DOID:0081133 3-methylglutaconic aciduria type 7a ISO RGD:731315 D RGD:7240710 20220831 OMIM 12023447 CLPB ClpB family mitochondrial disaggregase gene DOID:0081133 3-methylglutaconic aciduria type 7a ISO RGD:731315 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIA PMID:25741868|PMID:28492532|PMID:32313153|PMID:34140661 12023447 CLPB ClpB family mitochondrial disaggregase gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:731315 D RGD:7240710 20220831 OMIM 12023447 CLPB ClpB family mitochondrial disaggregase gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:731315 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:16199547|PMID:17576681|PMID:25595726|PMID:25597510|PMID:25597511|PMID:25650066|PMID:25741868|PMID:26916670|PMID:27290639|PMID:27891836|PMID:28492532|PMID:28554332|PMID:28687938|PMID:32219827|PMID:32313153|PMID:32573439|PMID:34115842|PMID:34140661|PMID:34782754|PMID:35616898|PMID:9536098 12023447 CLPB ClpB family mitochondrial disaggregase gene DOID:1059 intellectual disability ISO RGD:731315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12023447 CLPB ClpB family mitochondrial disaggregase gene DOID:11252 microcytic anemia ISO RGD:731315 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microcytic anemia PMID:34140661 12023447 CLPB ClpB family mitochondrial disaggregase gene DOID:1227 neutropenia ISO RGD:731315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:25597510|PMID:25597511|PMID:25741868|PMID:27290639|PMID:27891836|PMID:28492532|PMID:28687938|PMID:34782754 12023447 CLPB ClpB family mitochondrial disaggregase gene DOID:630 genetic disease ISO RGD:731315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:25597510|PMID:25741868|PMID:27290639|PMID:28492532|PMID:28554332|PMID:28687938 12023447 CLPB ClpB family mitochondrial disaggregase gene DOID:9000852 Severe Congenital Neutropenia 9, Autosomal Dominant ISO RGD:731315 D RGD:7240710 20220427 OMIM 12023447 CLPB ClpB family mitochondrial disaggregase gene DOID:9000852 Severe Congenital Neutropenia 9, Autosomal Dominant ISO RGD:731315 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 9, autosomal dominant PMID:28492532|PMID:34115842 12023478 MTMR14 myotubularin related protein 14 gene DOID:0111217 autosomal dominant centronuclear myopathy ISO RGD:1605051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF PMID:17008356|PMID:19590496|PMID:25741868|PMID:28492532 12023478 MTMR14 myotubularin related protein 14 gene DOID:0111223 centronuclear myopathy 1 ISO RGD:1605051 D RGD:7240710 20180130 OMIM 12023478 MTMR14 myotubularin related protein 14 gene DOID:2843 long QT syndrome ISO RGD:1605051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12023478 MTMR14 myotubularin related protein 14 gene DOID:4001 ovarian carcinoma ISO RGD:1605051 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:30365097 12023478 MTMR14 myotubularin related protein 14 gene DOID:422 congenital structural myopathy ISO RGD:1605051 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:17008356|PMID:25741868|PMID:28492532 12023478 MTMR14 myotubularin related protein 14 gene DOID:630 genetic disease ISO RGD:1605051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12023478 MTMR14 myotubularin related protein 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12023478 MTMR14 myotubularin related protein 14 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1605051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12023508 SH3GLB2 SH3 domain containing GRB2 like, endophilin B2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1314186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12023508 SH3GLB2 SH3 domain containing GRB2 like, endophilin B2 gene DOID:630 genetic disease ISO RGD:1314186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12023526 POU5F1 POU class 5 homeobox 1 gene DOID:0050553 JMP syndrome ISO RGD:1350605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12023526 POU5F1 POU class 5 homeobox 1 gene DOID:11372 megacolon ISO RGD:1350605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12023526 POU5F1 POU class 5 homeobox 1 gene DOID:1682 congenital heart disease ISO RGD:1350605 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26507003 12023526 POU5F1 POU class 5 homeobox 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1350605 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:urinary bladder PMID:17205510|REF_RGD_ID:2292435 12023526 POU5F1 POU class 5 homeobox 1 gene DOID:3308 embryonal carcinoma ISO RGD:1350605 D RGD:9068941 20200609 RGD PMID:18045648|REF_RGD_ID:2292431 12023526 POU5F1 POU class 5 homeobox 1 gene DOID:3308 embryonal carcinoma ISO RGD:1350605 D RGD:9068941 20200609 RGD DNA:hypomethylation:promoter PMID:17549357|REF_RGD_ID:2292433 12023526 POU5F1 POU class 5 homeobox 1 gene DOID:3590 gestational trophoblastic neoplasm ISO RGD:1350605 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18440631 12023526 POU5F1 POU class 5 homeobox 1 gene DOID:4440 seminoma ISO RGD:1350605 D RGD:9068941 20200609 RGD DNA:hypomethylation:promoter PMID:17549357|REF_RGD_ID:2292433 12023526 POU5F1 POU class 5 homeobox 1 gene DOID:4440 seminoma ISO RGD:1350605 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:testis PMID:17785371|REF_RGD_ID:2292432 12023526 POU5F1 POU class 5 homeobox 1 gene DOID:4440 seminoma ISO RGD:1350605 D RGD:9068941 20200609 RGD protein:increased expression:chest PMID:18162782|REF_RGD_ID:2292429 12023526 POU5F1 POU class 5 homeobox 1 gene DOID:4441 dysgerminoma ISO RGD:1350605 D RGD:9068941 20200609 RGD PMID:15371950|REF_RGD_ID:2292443 12023526 POU5F1 POU class 5 homeobox 1 gene DOID:630 genetic disease ISO RGD:1350605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12023526 POU5F1 POU class 5 homeobox 1 gene DOID:670 amphetamine abuse ISO RGD:1350605 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12023526 POU5F1 POU class 5 homeobox 1 gene DOID:8719 in situ carcinoma ISO RGD:1350605 D RGD:9068941 20200609 RGD associated with Testicular Neoplasms;protein:increased expression:semen PMID:17996359|REF_RGD_ID:2292428 12023526 POU5F1 POU class 5 homeobox 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1350605 D RGD:9068941 20200609 RGD associated with Seminoma; associated with Carcinoma, Embryonal PMID:15386301|REF_RGD_ID:2292442 12023526 POU5F1 POU class 5 homeobox 1 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1350605 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16168501 12023526 POU5F1 POU class 5 homeobox 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1350605 D RGD:9068941 20200609 RGD PMID:17413979|REF_RGD_ID:2292434 12023536 SLC22A13 solute carrier family 22 member 13 gene DOID:0050451 Brugada syndrome ISO RGD:1315683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 12023536 SLC22A13 solute carrier family 22 member 13 gene DOID:630 genetic disease ISO RGD:1315683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12023536 SLC22A13 solute carrier family 22 member 13 gene DOID:9001436 Immunodeficiency 68 ISO RGD:1315683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY PMID:28492532 12023536 SLC22A13 solute carrier family 22 member 13 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1315683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 12023550 HAAO 3-hydroxyanthranilate 3,4-dioxygenase gene DOID:12858 Huntington's disease ISO RGD:71071 D RGD:9068941 20200609 RGD PMID:2527078|REF_RGD_ID:13524507 12023550 HAAO 3-hydroxyanthranilate 3,4-dioxygenase gene DOID:1936 atherosclerosis treatment ISO RGD:731776 D RGD:9068941 20230413 RGD Ldlr knockout mouse PMID:31589306|REF_RGD_ID:243065123 12023550 HAAO 3-hydroxyanthranilate 3,4-dioxygenase gene DOID:3883 Lynch syndrome ISO RGD:731775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12023550 HAAO 3-hydroxyanthranilate 3,4-dioxygenase gene DOID:5419 schizophrenia ISO RGD:731775 D RGD:9068941 20200609 RGD protein:decreased activity:brain: PMID:21036897|REF_RGD_ID:13513905 12023550 HAAO 3-hydroxyanthranilate 3,4-dioxygenase gene DOID:630 genetic disease ISO RGD:731775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12023550 HAAO 3-hydroxyanthranilate 3,4-dioxygenase gene DOID:9000808 Hypercholesterolemia treatment ISO RGD:731776 D RGD:9068941 20230413 RGD Ldlr knockout mouse PMID:31589306|REF_RGD_ID:243065123 12023550 HAAO 3-hydroxyanthranilate 3,4-dioxygenase gene DOID:9005044 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 ISO RGD:731775 D RGD:7240710 20190315 OMIM 12023550 HAAO 3-hydroxyanthranilate 3,4-dioxygenase gene DOID:9005044 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 ISO RGD:731775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vertebral, cardiac, renal, and limb defects syndrome 1 PMID:25741868|PMID:28792876|PMID:33942433 12023577 ZNF470 zinc finger protein 470 gene DOID:630 genetic disease ISO RGD:1603830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12023603 PIGW phosphatidylinositol glycan anchor biosynthesis class W gene DOID:0060041 autism spectrum disorder ISO RGD:1352879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 12023603 PIGW phosphatidylinositol glycan anchor biosynthesis class W gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1352879 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 12023603 PIGW phosphatidylinositol glycan anchor biosynthesis class W gene DOID:12849 autistic disorder ISO RGD:1352879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12023603 PIGW phosphatidylinositol glycan anchor biosynthesis class W gene DOID:5419 schizophrenia ISO RGD:1352879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12023603 PIGW phosphatidylinositol glycan anchor biosynthesis class W gene DOID:630 genetic disease ISO RGD:1352879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30679815 12023603 PIGW phosphatidylinositol glycan anchor biosynthesis class W gene DOID:674 cleft palate ISO RGD:1352879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:25741868|PMID:28492532 12023603 PIGW phosphatidylinositol glycan anchor biosynthesis class W gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12023603 PIGW phosphatidylinositol glycan anchor biosynthesis class W gene DOID:9005046 Hyperphosphatasia with Impaired Intellectual Development Syndrome ISO RGD:1352879 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12023603 PIGW phosphatidylinositol glycan anchor biosynthesis class W gene DOID:9006834 Glycosylphosphatidylinositol Deficiency ISO RGD:1352879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 PMID:25741868 12023603 PIGW phosphatidylinositol glycan anchor biosynthesis class W gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:1352879 D RGD:7240710 20180130 OMIM 12023603 PIGW phosphatidylinositol glycan anchor biosynthesis class W gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:1352879 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24367057|PMID:24905847|PMID:25741868|PMID:26123568|PMID:27626616|PMID:28492532|PMID:30679815|PMID:30813920|PMID:31604004|PMID:32198969|PMID:32466763|PMID:9398836 12023603 PIGW phosphatidylinositol glycan anchor biosynthesis class W gene DOID:9008086 Developmental Disabilities ISO RGD:1352879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 12023631 CRYAA crystallin alpha A gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:735272 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12023631 CRYAA crystallin alpha A gene DOID:0110266 cataract 9 multiple types ISO RGD:735272 D RGD:7240710 20230505 OMIM 12023631 CRYAA crystallin alpha A gene DOID:0110266 cataract 9 multiple types ISO RGD:735272 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: CATARACT 9, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 9 multiple types | ClinVar Annotator: match by term: Cataract 9, autosomal recessive | ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 1 PMID:10684623|PMID:11006246|PMID:11123904|PMID:12601044|PMID:14512969|PMID:16564818|PMID:16735993|PMID:16862070|PMID:17296897|PMID:17724170|PMID:17937925|PMID:18056999|PMID:18085469|PMID:18302245|PMID:18587492|PMID:19182255|PMID:19503744|PMID:20079887|PMID:21042563|PMID:22045060|PMID:22140512|PMID:22216983|PMID:22347476|PMID:23255486|PMID:23379525|PMID:23441109|PMID:23508780|PMID:25018622|PMID:25694240|PMID:25741868|PMID:26542570|PMID:26694549|PMID:27307692|PMID:28179137|PMID:28492532|PMID:28839118|PMID:29386872|PMID:9467006 12023631 CRYAA crystallin alpha A gene DOID:1242 globe disease ISO RGD:735272 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Globe disease PMID:17724170|PMID:19503744|PMID:22045060|PMID:22140512|PMID:22347476|PMID:23508780|PMID:25741868|PMID:28492532 12023631 CRYAA crystallin alpha A gene DOID:13141 uveitis ISO RGD:735272 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:19578012|PMID:21850155 12023631 CRYAA crystallin alpha A gene DOID:417 autoimmune disease ISO RGD:735272 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:21850155 12023631 CRYAA crystallin alpha A gene DOID:630 genetic disease ISO RGD:735272 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12023631 CRYAA crystallin alpha A gene DOID:83 cataract ISO RGD:735272 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:17724170|PMID:17937925|PMID:18587492|PMID:19503744|PMID:22045060|PMID:22140512|PMID:22347476|PMID:23379525|PMID:23441109|PMID:23508780|PMID:25018622|PMID:25694240|PMID:25741868|PMID:26694549|PMID:28179137|PMID:28492532|PMID:28839118|PMID:29386872 12023631 CRYAA crystallin alpha A gene DOID:891 progressive myoclonus epilepsy ISO RGD:735272 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12023631 CRYAA crystallin alpha A gene DOID:9002535 Cataract, Autosomal Recessive Congenital 1 ISO RGD:735272 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 1 PMID:10684623|PMID:11123904|PMID:16564818|PMID:16735993|PMID:17296897|PMID:17724170|PMID:17937925|PMID:18085469|PMID:18302245|PMID:18587492|PMID:19503744|PMID:20079887|PMID:22045060|PMID:22140512|PMID:22216983|PMID:22347476|PMID:23379525|PMID:23441109|PMID:23508780|PMID:25018622|PMID:25694240|PMID:25741868|PMID:26694549|PMID:28179137|PMID:28492532|PMID:28839118|PMID:29386872|PMID:9467006 12023631 CRYAA crystallin alpha A gene DOID:9008296 Eye Abnormalities ISO RGD:735272 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:17724170|PMID:19503744|PMID:22045060|PMID:22140512|PMID:22347476|PMID:23508780|PMID:25741868|PMID:28492532 12023631 CRYAA crystallin alpha A gene DOID:9263 homocystinuria ISO RGD:735272 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12023631 CRYAA crystallin alpha A gene DOID:9282 ocular hypertension ISO RGD:2413 D RGD:9068941 20230427 RGD protein:decreased expression:retina PMID:18626730|REF_RGD_ID:2303613 12023631 CRYAA crystallin alpha A gene DOID:9562 primary ciliary dyskinesia ISO RGD:735272 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12023631 CRYAA crystallin alpha A gene DOID:9870 galactosemia ISO RGD:2413 D RGD:9068941 20230427 RGD mRNA:decreased expression:lens PMID:1707863|REF_RGD_ID:1600994 12023639 SYNGR4 synaptogyrin 4 gene DOID:630 genetic disease ISO RGD:1317104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12023651 MPRIP myosin phosphatase Rho interacting protein gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:736941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 12023651 MPRIP myosin phosphatase Rho interacting protein gene DOID:0050777 Joubert syndrome ISO RGD:736941 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12023651 MPRIP myosin phosphatase Rho interacting protein gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:736941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12023651 MPRIP myosin phosphatase Rho interacting protein gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:736941 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12023651 MPRIP myosin phosphatase Rho interacting protein gene DOID:12849 autistic disorder ISO RGD:736941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12023651 MPRIP myosin phosphatase Rho interacting protein gene DOID:630 genetic disease ISO RGD:736941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12023651 MPRIP myosin phosphatase Rho interacting protein gene DOID:9004657 Weight Gain ISO RGD:736941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12023678 TOP3A DNA topoisomerase III alpha gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1319604 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 12023678 TOP3A DNA topoisomerase III alpha gene DOID:0050777 Joubert syndrome ISO RGD:1319604 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12023678 TOP3A DNA topoisomerase III alpha gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1319604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12023678 TOP3A DNA topoisomerase III alpha gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1319604 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12023678 TOP3A DNA topoisomerase III alpha gene DOID:0111524 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 ISO RGD:1319604 D RGD:7240710 20190821 OMIM 12023678 TOP3A DNA topoisomerase III alpha gene DOID:0111524 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 ISO RGD:1319604 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 PMID:25741868|PMID:28492532|PMID:29290614 12023678 TOP3A DNA topoisomerase III alpha gene DOID:10003 sensorineural hearing loss ISO RGD:1319604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 12023678 TOP3A DNA topoisomerase III alpha gene DOID:12849 autistic disorder ISO RGD:1319604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12023678 TOP3A DNA topoisomerase III alpha gene DOID:630 genetic disease ISO RGD:1319604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12023678 TOP3A DNA topoisomerase III alpha gene DOID:700 mitochondrial metabolism disease ISO RGD:1319604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:29290614 12023678 TOP3A DNA topoisomerase III alpha gene DOID:9009217 Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 ISO RGD:1319604 D RGD:7240710 20190315 OMIM 12023678 TOP3A DNA topoisomerase III alpha gene DOID:9009217 Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 ISO RGD:1319604 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly, growth restriction, and increased sister chromatid exchange 2 PMID:25741868|PMID:28492532|PMID:30057030 12023701 PER2 period circadian regulator 2 gene DOID:0050628 advanced sleep phase syndrome ISO RGD:737181 D RGD:9068941 20200609 RGD familial advanced sleep-phase syndrome, OMIM:604348, DNA:point mutation:exon:S662G PMID:11232563|REF_RGD_ID:1600411 12023701 PER2 period circadian regulator 2 gene DOID:0060001 withdrawal disorder ISO RGD:737181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20434889|PMID:20738730 12023701 PER2 period circadian regulator 2 gene DOID:0060041 autism spectrum disorder ISO RGD:737181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12023701 PER2 period circadian regulator 2 gene DOID:0110011 advanced sleep phase syndrome 1 ISO RGD:737181 D RGD:7240710 20180130 OMIM 12023701 PER2 period circadian regulator 2 gene DOID:0110011 advanced sleep phase syndrome 1 ISO RGD:737181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Advanced sleep phase syndrome 1 PMID:11232563|PMID:25741868 12023701 PER2 period circadian regulator 2 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:737181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12023701 PER2 period circadian regulator 2 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:737181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12023701 PER2 period circadian regulator 2 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:737181 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12023701 PER2 period circadian regulator 2 gene DOID:1059 intellectual disability ISO RGD:737181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12023701 PER2 period circadian regulator 2 gene DOID:535 sleep disorder ISO RGD:737181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sleep disturbance 12023701 PER2 period circadian regulator 2 gene DOID:630 genetic disease ISO RGD:737181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12023701 PER2 period circadian regulator 2 gene DOID:8552 chronic myeloid leukemia ISO RGD:737181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16999817 12023701 PER2 period circadian regulator 2 gene DOID:9000499 Alcoholic Intoxication ISO RGD:737181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15608650 12023701 PER2 period circadian regulator 2 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:737181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12023731 PEF1 penta-EF-hand domain containing 1 gene DOID:630 genetic disease ISO RGD:1605152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12023740 VWCE von Willebrand factor C and EGF domains gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12023740 VWCE von Willebrand factor C and EGF domains gene DOID:1059 intellectual disability ISO RGD:1602968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12023740 VWCE von Willebrand factor C and EGF domains gene DOID:630 genetic disease ISO RGD:1602968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12023740 VWCE von Willebrand factor C and EGF domains gene DOID:9007661 Dwarfism ISO RGD:1602968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12023776 SLC4A7 solute carrier family 4 member 7 gene DOID:0110839 Usher syndrome type 2C ISO RGD:736860 D RGD:9068941 20220825 MouseDO OMIM:605472 12023776 SLC4A7 solute carrier family 4 member 7 gene DOID:3910 lung adenocarcinoma ISO RGD:730989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12023776 SLC4A7 solute carrier family 4 member 7 gene DOID:630 genetic disease ISO RGD:730989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12023776 SLC4A7 solute carrier family 4 member 7 gene DOID:9006205 Animal Disease Models ISO RGD:730989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12023808 EIF3I eukaryotic translation initiation factor 3 subunit I gene DOID:630 genetic disease ISO RGD:1350072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12023808 EIF3I eukaryotic translation initiation factor 3 subunit I gene DOID:9002928 Colonic Neoplasms ISO RGD:1350072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24056964 12023808 EIF3I eukaryotic translation initiation factor 3 subunit I gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1350072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11830523|PMID:24056964 12023823 LSMEM2 leucine rich single-pass membrane protein 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12023823 LSMEM2 leucine rich single-pass membrane protein 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12023823 LSMEM2 leucine rich single-pass membrane protein 2 gene DOID:630 genetic disease ISO RGD:1602071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12023823 LSMEM2 leucine rich single-pass membrane protein 2 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1602071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12023823 LSMEM2 leucine rich single-pass membrane protein 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1602071 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12023840 TNNT2 troponin T2, cardiac type gene DOID:0050469 Costello syndrome ISO RGD:732398 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Costello syndrome PMID:10085122|PMID:10405326|PMID:10610467|PMID:10617660|PMID:11432788|PMID:12860912|PMID:12881443|PMID:12974739|PMID:14563299|PMID:14636924|PMID:15246915|PMID:15958377|PMID:16115869|PMID:16199542|PMID:16715312|PMID:16777946|PMID:17101185|PMID:18533079|PMID:19033660|PMID:19150014|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20624503|PMID:20800588|PMID:21310275|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22144547|PMID:22500102|PMID:22857948|PMID:23074333|PMID:23283745|PMID:24033266|PMID:24055113|PMID:24418317|PMID:24793961|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25741868|PMID:26183555|PMID:26507537|PMID:26681313|PMID:26743238|PMID:26914223|PMID:27022107|PMID:27483260|PMID:27600940|PMID:27930701|PMID:28193612|PMID:28492532|PMID:28771489|PMID:29121657|PMID:2946667|PMID:30762279|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:33148509|PMID:34008892|PMID:7898523 12023840 TNNT2 troponin T2, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:732398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10529204|PMID:10610467|PMID:10617660|PMID:10850966|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11106718|PMID:11113119|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:11773635|PMID:12186860|PMID:12409295|PMID:12707239|PMID:12818575|PMID:12860912|PMID:12881443|PMID:12923187|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15623536|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16115869|PMID:16199542|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17456375|PMID:17576681|PMID:17932326|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18651846|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19253838|PMID:19275886|PMID:19412328|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20079745|PMID:20083571|PMID:20215591|PMID:20439259|PMID:20458009|PMID:20530761|PMID:20624503|PMID:20800588|PMID:20973921|PMID:20978592|PMID:21245263|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23383212|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24367593|PMID:24418317|PMID:24503780|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25086479|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25681424|PMID:25741868|PMID:25849606|PMID:26084686|PMID:26183555|PMID:26468400|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:27022107|PMID:27036851|PMID:27082122|PMID:27153395|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27841901|PMID:27930701|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28255936|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28973083|PMID:28973951|PMID:29121657|PMID:29247119|PMID:29367539|PMID:2946667|PMID:29661763|PMID:29773157|PMID:30165862|PMID:30297972|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31737537|PMID:31918855|PMID:32581830|PMID:32690703|PMID:33025817|PMID:33148509|PMID:34008892|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9140840|PMID:9154300|PMID:9536098|PMID:9637714|PMID:9714088 12023840 TNNT2 troponin T2, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:732398 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Hypokinetic non-dilated cardiomyopathy PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10529204|PMID:10610467|PMID:10617660|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11113119|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:12409295|PMID:12707239|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12923187|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15623536|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16115869|PMID:16199542|PMID:16199547|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17456375|PMID:17576681|PMID:17932326|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18651846|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19253838|PMID:19275886|PMID:19412328|PMID:19466586|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20083571|PMID:20215591|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20530761|PMID:20624503|PMID:20800588|PMID:20973921|PMID:21245263|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22337857|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24367593|PMID:24418317|PMID:24503780|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25086479|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25681424|PMID:25741868|PMID:25849606|PMID:26084686|PMID:26183555|PMID:26468400|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27082122|PMID:27153395|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27841901|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28202948|PMID:28255936|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28706299|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28971120|PMID:28973083|PMID:28973951|PMID:29121657|PMID:29247119|PMID:29367539|PMID:2946667|PMID:29661763|PMID:29773157|PMID:29988065|PMID:30165862|PMID:30297972|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30763825|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31648988|PMID:31737537|PMID:31918855|PMID:31983221|PMID:32344918|PMID:32492895|PMID:32581830|PMID:32659924|PMID:32690703|PMID:32815737|PMID:32880476|PMID:32969603|PMID:33025817|PMID:33029862|PMID:33148509|PMID:33223521|PMID:33297573|PMID:34008892|PMID:34135346|PMID:34213952|PMID:34350506|PMID:34426522|PMID:34540771|PMID:34699384|PMID:34853230|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9140840|PMID:9154300|PMID:9536098|PMID:9637714|PMID:9714088 12023840 TNNT2 troponin T2, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:732398 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Hypokinetic non-dilated cardiomyopathy PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10529204|PMID:10610467|PMID:10617660|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11113119|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:12409295|PMID:12707239|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12923187|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15623536|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16115869|PMID:16199542|PMID:16199547|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17456375|PMID:17576681|PMID:17932326|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18612386|PMID:18651846|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19253838|PMID:19275886|PMID:19412328|PMID:19466586|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20083571|PMID:20215591|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20530761|PMID:20624503|PMID:20800588|PMID:20973921|PMID:21245263|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24367593|PMID:24418317|PMID:24503780|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25086479|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25681424|PMID:25741868|PMID:25849606|PMID:26084686|PMID:26183555|PMID:26468400|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27082122|PMID:27153395|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27841901|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28202948|PMID:28255936|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28706299|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28971120|PMID:28973083|PMID:28973951|PMID:29121657|PMID:29247119|PMID:29367539|PMID:2946667|PMID:29661763|PMID:29773157|PMID:29988065|PMID:30165862|PMID:30297972|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30763825|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31648988|PMID:31737537|PMID:31918855|PMID:31983221|PMID:32098556|PMID:32344918|PMID:32492895|PMID:32581830|PMID:32659924|PMID:32690703|PMID:32815737|PMID:32880476|PMID:32969603|PMID:33025817|PMID:33029862|PMID:33148509|PMID:33223521|PMID:33297573|PMID:34008892|PMID:34135346|PMID:34213952|PMID:34350506|PMID:34426522|PMID:34540771|PMID:34699384|PMID:34853230|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9140840|PMID:9154300|PMID:9536098|PMID:9637714|PMID:9714088 12023840 TNNT2 troponin T2, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:732398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10529204|PMID:10610467|PMID:10617660|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11106718|PMID:11113119|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:11773635|PMID:12186860|PMID:12409295|PMID:12707239|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12923187|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15623536|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16115869|PMID:16199542|PMID:16199547|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17456375|PMID:17576681|PMID:17932326|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18612386|PMID:18651846|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19253838|PMID:19275886|PMID:19412328|PMID:19466586|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20079745|PMID:20083571|PMID:20215591|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20530761|PMID:20624503|PMID:20800588|PMID:20973921|PMID:20978592|PMID:21245263|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23383212|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24367593|PMID:24418317|PMID:24503780|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25086479|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25681424|PMID:25741868|PMID:25849606|PMID:26084686|PMID:26183555|PMID:26468400|PMID:26498512|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27082122|PMID:27153395|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27841901|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28202948|PMID:28255936|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28706299|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28971120|PMID:28973083|PMID:28973951|PMID:29121657|PMID:29247119|PMID:29367539|PMID:2946667|PMID:29540472|PMID:29661763|PMID:29773157|PMID:29988065|PMID:30165862|PMID:30297972|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30763825|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31648988|PMID:31737537|PMID:31918855|PMID:31983221|PMID:32041989|PMID:32098556|PMID:32344918|PMID:32492895|PMID:32581830|PMID:32659924|PMID:32690703|PMID:32746448|PMID:32815737|PMID:32880476|PMID:32969603|PMID:33025817|PMID:33029862|PMID:33148509|PMID:33223521|PMID:33297573|PMID:33500567|PMID:34008892|PMID:34135346|PMID:34213952|PMID:34350506|PMID:34426522|PMID:34540771|PMID:34699384|PMID:34853230|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9140840|PMID:9154300|PMID:9536098|PMID:9637714|PMID:9714088 12023840 TNNT2 troponin T2, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:732398 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Hypokinetic non-dilated cardiomyopathy PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10529204|PMID:10610467|PMID:10617660|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11106718|PMID:11113119|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:11773635|PMID:12186860|PMID:12409295|PMID:12707239|PMID:12746413|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12923187|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15623536|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16115869|PMID:16199542|PMID:16199547|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17456375|PMID:17576681|PMID:17932326|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18612386|PMID:18651846|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19253838|PMID:19275886|PMID:19412328|PMID:19466586|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20079745|PMID:20083571|PMID:20215591|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20530761|PMID:20624503|PMID:20800588|PMID:20973921|PMID:20978592|PMID:21245263|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22579624|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23383212|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24367593|PMID:24418317|PMID:24480310|PMID:24503780|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25086479|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25681424|PMID:25741868|PMID:25849606|PMID:26084686|PMID:26183555|PMID:26468400|PMID:26498512|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27082122|PMID:27153395|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27841901|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28202948|PMID:28255936|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28706299|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28971120|PMID:28973083|PMID:28973951|PMID:29121657|PMID:29247119|PMID:29367539|PMID:29398688|PMID:2946667|PMID:29540472|PMID:29661763|PMID:29773157|PMID:29988065|PMID:30165862|PMID:30297972|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30763825|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31648988|PMID:31737537|PMID:31918855|PMID:31983221|PMID:32041989|PMID:32098556|PMID:32344918|PMID:32492895|PMID:32581830|PMID:32659924|PMID:32690703|PMID:32746448|PMID:32815737|PMID:32880476|PMID:32969603|PMID:33025817|PMID:33029862|PMID:33148509|PMID:33223521|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33673806|PMID:34008892|PMID:34135346|PMID:34213952|PMID:34350506|PMID:34426522|PMID:34540771|PMID:34699384|PMID:34853230|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9140840|PMID:9154300|PMID:9536098|PMID:9637714|PMID:9714088 12023840 TNNT2 troponin T2, cardiac type gene DOID:0060480 left ventricular noncompaction ISO RGD:732398 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:22958901|PMID:24033266|PMID:25741868|PMID:33500567|PMID:34691145|PMID:34697415 12023840 TNNT2 troponin T2, cardiac type gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:732398 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10521296|PMID:10525521|PMID:10610467|PMID:10617660|PMID:10978365|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11968089|PMID:12084606|PMID:12409295|PMID:12707239|PMID:12818575|PMID:12860912|PMID:12881443|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15519027|PMID:15542288|PMID:15631686|PMID:15958377|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16326803|PMID:16715312|PMID:16754800|PMID:16777946|PMID:16858239|PMID:17101185|PMID:17612745|PMID:18029407|PMID:18403758|PMID:18533079|PMID:18612386|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19275886|PMID:19412328|PMID:19645627|PMID:19880069|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20215591|PMID:20414521|PMID:20439259|PMID:20530761|PMID:20624503|PMID:20800588|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22321274|PMID:22334656|PMID:22455086|PMID:22500102|PMID:22579624|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23494605|PMID:23674365|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24418317|PMID:24503780|PMID:24721642|PMID:24793961|PMID:25086479|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25741868|PMID:26183555|PMID:26468400|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27074551|PMID:27082122|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27600940|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28973083|PMID:29121657|PMID:2946667|PMID:29661763|PMID:29907873|PMID:30165862|PMID:30297972|PMID:30565988|PMID:30762279|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31737537|PMID:32098556|PMID:32344918|PMID:32492895|PMID:32815737|PMID:33025817|PMID:33148509|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34008892|PMID:34426522|PMID:34699384|PMID:7898523|PMID:8205619|PMID:8951566|PMID:9060892|PMID:9140840|PMID:9201030 12023840 TNNT2 troponin T2, cardiac type gene DOID:0080600 COVID-19 severity ISO RGD:732398 D RGD:9068941 20200625 RGD protein:increased expression:serum (human) PMID:32297828|REF_RGD_ID:32716368 12023840 TNNT2 troponin T2, cardiac type gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732398 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10521296|PMID:10525521|PMID:10610467|PMID:10617660|PMID:10978365|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11968089|PMID:12084606|PMID:12409295|PMID:12707239|PMID:12818575|PMID:12860912|PMID:12881443|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15519027|PMID:15542288|PMID:15631686|PMID:15958377|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16326803|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17612745|PMID:18029407|PMID:18403758|PMID:18533079|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19275886|PMID:19412328|PMID:19645627|PMID:19880069|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20215591|PMID:20414521|PMID:20439259|PMID:20624503|PMID:20800588|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22321274|PMID:22334656|PMID:22455086|PMID:22500102|PMID:22579624|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23494605|PMID:23674365|PMID:23711808|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24418317|PMID:24503780|PMID:24721642|PMID:24793961|PMID:25086479|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25741868|PMID:26183555|PMID:26468400|PMID:26507537|PMID:26633542|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27074551|PMID:27082122|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27600940|PMID:27707468|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28973083|PMID:29121657|PMID:2946667|PMID:29661763|PMID:29907873|PMID:30165862|PMID:30297972|PMID:30565988|PMID:30762279|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31941943|PMID:32290750|PMID:32344918|PMID:32492895|PMID:32815737|PMID:33025817|PMID:33148509|PMID:33297573|PMID:33559798|PMID:34008892|PMID:34426522|PMID:34699384|PMID:7898523|PMID:8205619|PMID:8951566|PMID:9060892|PMID:9140840|PMID:9154300|PMID:9201030 12023840 TNNT2 troponin T2, cardiac type gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732398 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10521296|PMID:10525521|PMID:10610467|PMID:10617660|PMID:10978365|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11968089|PMID:12084606|PMID:12409295|PMID:12707239|PMID:12818575|PMID:12860912|PMID:12881443|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15519027|PMID:15542288|PMID:15631686|PMID:15958377|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16326803|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17612745|PMID:18029407|PMID:18403758|PMID:18533079|PMID:18612386|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19275886|PMID:19412328|PMID:19645627|PMID:19880069|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20215591|PMID:20414521|PMID:20439259|PMID:20624503|PMID:20800588|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22321274|PMID:22334656|PMID:22455086|PMID:22500102|PMID:22579624|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23494605|PMID:23674365|PMID:23711808|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24418317|PMID:24503780|PMID:24721642|PMID:24793961|PMID:25086479|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25741868|PMID:26183555|PMID:26468400|PMID:26507537|PMID:26633542|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27074551|PMID:27082122|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27600940|PMID:27707468|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28973083|PMID:29121657|PMID:2946667|PMID:29661763|PMID:29907873|PMID:30165862|PMID:30297972|PMID:30565988|PMID:30762279|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31941943|PMID:32098556|PMID:32290750|PMID:32344918|PMID:32492895|PMID:32815737|PMID:33025817|PMID:33148509|PMID:33297573|PMID:33559798|PMID:34008892|PMID:34426522|PMID:34699384|PMID:7898523|PMID:8205619|PMID:8951566|PMID:9060892|PMID:9140840|PMID:9154300|PMID:9201030 12023840 TNNT2 troponin T2, cardiac type gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732398 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10521296|PMID:10525521|PMID:10610467|PMID:10617660|PMID:10978365|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11968089|PMID:12084606|PMID:12409295|PMID:12707239|PMID:12818575|PMID:12860912|PMID:12881443|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15519027|PMID:15542288|PMID:15631686|PMID:15958377|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16326803|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17612745|PMID:18029407|PMID:18403758|PMID:18533079|PMID:18612386|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19275886|PMID:19412328|PMID:19645627|PMID:19880069|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20215591|PMID:20414521|PMID:20439259|PMID:20624503|PMID:20800588|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22321274|PMID:22334656|PMID:22455086|PMID:22500102|PMID:22579624|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23494605|PMID:23674365|PMID:23711808|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24418317|PMID:24503780|PMID:24721642|PMID:24793961|PMID:25086479|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25741868|PMID:26183555|PMID:26468400|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27074551|PMID:27082122|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27600940|PMID:27707468|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28973083|PMID:29121657|PMID:2946667|PMID:29661763|PMID:29907873|PMID:30165862|PMID:30297972|PMID:30565988|PMID:30762279|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31941943|PMID:32098556|PMID:32290750|PMID:32344918|PMID:32492895|PMID:32815737|PMID:33025817|PMID:33148509|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33559798|PMID:33673806|PMID:34008892|PMID:34426522|PMID:34699384|PMID:7898523|PMID:8205619|PMID:8951566|PMID:9060892|PMID:9140840|PMID:9154300|PMID:9201030 12023840 TNNT2 troponin T2, cardiac type gene DOID:0110308 hypertrophic cardiomyopathy 2 ISO RGD:732398 D RGD:7240710 20180130 OMIM 12023840 TNNT2 troponin T2, cardiac type gene DOID:0110308 hypertrophic cardiomyopathy 2 ISO RGD:732398 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 2 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2 PMID:10085122|PMID:10405326|PMID:10449439|PMID:10467159|PMID:10497196|PMID:10521296|PMID:10525521|PMID:10529204|PMID:10610467|PMID:10617660|PMID:10850966|PMID:10978365|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11106718|PMID:11113119|PMID:11158969|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:11773635|PMID:11968089|PMID:12084606|PMID:12186860|PMID:12409295|PMID:12473556|PMID:12707239|PMID:12746413|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12923187|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15623536|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16199547|PMID:16326803|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17278368|PMID:17456375|PMID:17576681|PMID:17612745|PMID:17932326|PMID:18029407|PMID:18056765|PMID:18154728|PMID:18258667|PMID:18349139|PMID:18403758|PMID:18467357|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18612386|PMID:18651846|PMID:19033660|PMID:19035361|PMID:19061534|PMID:19087273|PMID:19150014|PMID:19253838|PMID:19275886|PMID:19324435|PMID:19412328|PMID:19466586|PMID:19487599|PMID:19645627|PMID:19659763|PMID:19754353|PMID:19880069|PMID:19914256|PMID:2003160|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20079745|PMID:20083571|PMID:20159828|PMID:20215591|PMID:20298698|PMID:20414521|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20624503|PMID:20800588|PMID:20973921|PMID:20978592|PMID:21185001|PMID:21245263|PMID:21310275|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21511876|PMID:21551322|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22334656|PMID:22337857|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22517884|PMID:22579624|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23383212|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23785128|PMID:23861362|PMID:23897817|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24418317|PMID:24480310|PMID:24503780|PMID:24691700|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25031304|PMID:25086479|PMID:25132132|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25681424|PMID:25741868|PMID:25849606|PMID:26084686|PMID:26095046|PMID:26183555|PMID:26468400|PMID:26498512|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27036851|PMID:27074551|PMID:27082122|PMID:27153395|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27707468|PMID:27757084|PMID:27841901|PMID:27930701|PMID:28073646|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28202948|PMID:28246128|PMID:28255936|PMID:28352236|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28566242|PMID:28588840|PMID:28669108|PMID:28706299|PMID:28735292|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28971120|PMID:28973083|PMID:28973951|PMID:29016939|PMID:29121657|PMID:29247119|PMID:29367539|PMID:29367541|PMID:29398688|PMID:2946667|PMID:29540472|PMID:29661763|PMID:29773157|PMID:29892087|PMID:29907873|PMID:29988065|PMID:30165862|PMID:30297972|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30763825|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31373515|PMID:31513939|PMID:31514951|PMID:31648988|PMID:31737537|PMID:31918855|PMID:31937807|PMID:31941943|PMID:31983221|PMID:32041989|PMID:32098556|PMID:32290750|PMID:32344918|PMID:32492895|PMID:32581830|PMID:32618513|PMID:32659924|PMID:32690703|PMID:32746448 12023840 TNNT2 troponin T2, cardiac type gene DOID:0110308 hypertrophic cardiomyopathy 2 ISO RGD:732398 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 2 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2 PMID:32815737|PMID:32846832|PMID:32880476|PMID:32969603|PMID:33025817|PMID:33029862|PMID:33087929|PMID:33148509|PMID:33223521|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33559798|PMID:33673806|PMID:34008892|PMID:34036930|PMID:34135346|PMID:34161147|PMID:34213952|PMID:34350506|PMID:34426522|PMID:34540771|PMID:34699384|PMID:34853230|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9060892|PMID:9140840|PMID:9154300|PMID:9201030|PMID:9536098|PMID:9637714|PMID:9714088|PMID:9788962 12023840 TNNT2 troponin T2, cardiac type gene DOID:0110426 dilated cardiomyopathy 1D ISO RGD:732398 D RGD:7240710 20180130 OMIM 12023840 TNNT2 troponin T2, cardiac type gene DOID:0110426 dilated cardiomyopathy 1D ISO RGD:732398 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1D | ClinVar Annotator: match by term: Left ventricular noncompaction 6 PMID:10085122|PMID:10405326|PMID:10449439|PMID:10467159|PMID:10497196|PMID:10521296|PMID:10525521|PMID:10529204|PMID:10610467|PMID:10617660|PMID:10978365|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11113119|PMID:11158969|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:11968089|PMID:12084606|PMID:12186860|PMID:12409295|PMID:12473556|PMID:12707239|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12923187|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15623536|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16199547|PMID:16326803|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17278368|PMID:17456375|PMID:17576681|PMID:17612745|PMID:17932326|PMID:18029407|PMID:18056765|PMID:18154728|PMID:18258667|PMID:18349139|PMID:18403758|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18612386|PMID:18651846|PMID:19033660|PMID:19035361|PMID:19087273|PMID:19150014|PMID:19253838|PMID:19275886|PMID:19324435|PMID:19412328|PMID:19466586|PMID:19487599|PMID:19645627|PMID:19754353|PMID:19880069|PMID:19914256|PMID:2003160|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20083571|PMID:20159828|PMID:20215591|PMID:20298698|PMID:20414521|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20624503|PMID:20800588|PMID:20973921|PMID:21245263|PMID:21310275|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21511876|PMID:21551322|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22334656|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22517884|PMID:22579624|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24418317|PMID:24480310|PMID:24503780|PMID:24691700|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25031304|PMID:25086479|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25681424|PMID:25741868|PMID:26084686|PMID:26095046|PMID:26183555|PMID:26468400|PMID:26498512|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27036851|PMID:27074551|PMID:27082122|PMID:27153395|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27707468|PMID:27757084|PMID:27841901|PMID:27930701|PMID:28073646|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28246128|PMID:28255936|PMID:28352236|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28492532|PMID:28566242|PMID:28588840|PMID:28669108|PMID:28706299|PMID:28735292|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28971120|PMID:28973083|PMID:28973951|PMID:29121657|PMID:29247119|PMID:29367539|PMID:29398688|PMID:2946667|PMID:29661763|PMID:29773157|PMID:29892087|PMID:29907873|PMID:29988065|PMID:30165862|PMID:30297972|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30763825|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31373515|PMID:31513939|PMID:31514951|PMID:31648988|PMID:31737537|PMID:31918855|PMID:31937807|PMID:31941943|PMID:31983221|PMID:32098556|PMID:32290750|PMID:32344918|PMID:32492895|PMID:32581830|PMID:32618513|PMID:32690703|PMID:32746448|PMID:32815737|PMID:32846832|PMID:32880476|PMID:32969603|PMID:33025817|PMID:33029862|PMID:33148509|PMID:33223521|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33559798|PMID:33673806|PMID:34008892|PMID:34135346|PMID:34213952|PMID:34350506|PMID:34426522|PMID:34540771|PMID:34699384 12023840 TNNT2 troponin T2, cardiac type gene DOID:0110426 dilated cardiomyopathy 1D ISO RGD:732398 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1D | ClinVar Annotator: match by term: Left ventricular noncompaction 6 PMID:34853230|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9060892|PMID:9140840|PMID:9201030|PMID:9536098|PMID:9637714|PMID:9714088|PMID:9788962 12023840 TNNT2 troponin T2, cardiac type gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:732398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:15542288|PMID:16199547|PMID:19412328|PMID:20031601|PMID:20215591|PMID:20973921|PMID:21483645|PMID:23349452|PMID:24033266|PMID:24503780|PMID:25448463|PMID:25524337|PMID:25741868|PMID:26084686|PMID:26498512|PMID:26779504|PMID:27411801|PMID:27532257|PMID:27576561|PMID:28492532|PMID:29367539|PMID:29773157|PMID:30847666|PMID:31983221|PMID:32746448 12023840 TNNT2 troponin T2, cardiac type gene DOID:0110447 dilated cardiomyopathy 1DD ISO RGD:732398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:15358028|PMID:16199547|PMID:19754353|PMID:24033266|PMID:24992688|PMID:25741868|PMID:27153395|PMID:27532257|PMID:28492532|PMID:28973951|PMID:33025817|PMID:34213952|PMID:34540771 12023840 TNNT2 troponin T2, cardiac type gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:732398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S 12023840 TNNT2 troponin T2, cardiac type gene DOID:0110458 dilated cardiomyopathy 1BB ISO RGD:732398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy PMID:11684629|PMID:12923187|PMID:14654368|PMID:15623536|PMID:15769782|PMID:15923195|PMID:17932326|PMID:18349139|PMID:18506004|PMID:18606313|PMID:19253838|PMID:21846512|PMID:22675533|PMID:23539503|PMID:24033266|PMID:24367593|PMID:24992688|PMID:25611685|PMID:25681424|PMID:25741868|PMID:26656454|PMID:27532257|PMID:28492532 12023840 TNNT2 troponin T2, cardiac type gene DOID:0111427 restrictive cardiomyopathy 3 ISO RGD:732398 D RGD:7240710 20180130 OMIM 12023840 TNNT2 troponin T2, cardiac type gene DOID:0111427 restrictive cardiomyopathy 3 ISO RGD:732398 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 3 PMID:10085122|PMID:10405326|PMID:10449439|PMID:10467159|PMID:10497196|PMID:10521296|PMID:10525521|PMID:10529204|PMID:10610467|PMID:10617660|PMID:10978365|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11113119|PMID:11158969|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:11968089|PMID:12084606|PMID:12186860|PMID:12409295|PMID:12473556|PMID:12707239|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16199547|PMID:16326803|PMID:16651346|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17278368|PMID:17456375|PMID:17576681|PMID:17612745|PMID:17932326|PMID:18029407|PMID:18032382|PMID:18056765|PMID:18154728|PMID:18258667|PMID:18403758|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18612386|PMID:18651846|PMID:19033660|PMID:19035361|PMID:19087273|PMID:19150014|PMID:19275886|PMID:19324435|PMID:19412328|PMID:19466586|PMID:19487599|PMID:19645627|PMID:19754353|PMID:19880069|PMID:19914256|PMID:2003160|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20083571|PMID:20159828|PMID:20215591|PMID:20298698|PMID:20414521|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20624503|PMID:20800588|PMID:20973921|PMID:21245263|PMID:21310275|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21511876|PMID:21551322|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22334656|PMID:22337857|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22517884|PMID:22579624|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24418317|PMID:24480310|PMID:24503780|PMID:24691700|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25031304|PMID:25086479|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25741868|PMID:26084686|PMID:26095046|PMID:26183555|PMID:26468400|PMID:26498512|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27036851|PMID:27074551|PMID:27082122|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27707468|PMID:27757084|PMID:27841901|PMID:27930701|PMID:28073646|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28246128|PMID:28255936|PMID:28352236|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28492532|PMID:28566242|PMID:28588840|PMID:28669108|PMID:28706299|PMID:28735292|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28971120|PMID:28973083|PMID:28973951|PMID:29121657|PMID:29247119|PMID:29367539|PMID:29398688|PMID:2946667|PMID:29661763|PMID:29773157|PMID:29892087|PMID:29907873|PMID:29988065|PMID:30165862|PMID:30297972|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30763825|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31373515|PMID:31513939|PMID:31514951|PMID:31648988|PMID:31737537|PMID:31918855|PMID:31937807|PMID:31941943|PMID:31983221|PMID:32098556|PMID:32290750|PMID:32344918|PMID:32492895|PMID:32581830|PMID:32618513|PMID:32690703|PMID:32746448|PMID:32815737|PMID:32846832|PMID:32880476|PMID:32969603|PMID:33025817|PMID:33029862|PMID:33148509|PMID:33223521|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33559798|PMID:33673806|PMID:34008892|PMID:34135346|PMID:34350506|PMID:34426522|PMID:34699384|PMID:34853230|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9060892|PMID:9140840|PMID:9201030|PMID:9536098|PMID:9637714 12023840 TNNT2 troponin T2, cardiac type gene DOID:0111427 restrictive cardiomyopathy 3 ISO RGD:732398 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 3 PMID:9788962 12023840 TNNT2 troponin T2, cardiac type gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:732398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12023840 TNNT2 troponin T2, cardiac type gene DOID:0111879 Diamond-Blackfan anemia 6 ISO RGD:732398 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 PMID:12707239|PMID:20038417|PMID:22857948|PMID:23396983|PMID:25741868|PMID:28492532|PMID:33025817 12023840 TNNT2 troponin T2, cardiac type gene DOID:114 heart disease ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17848144 12023840 TNNT2 troponin T2, cardiac type gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732398 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10085122|PMID:10405326|PMID:10449439|PMID:10521296|PMID:10525521|PMID:10529204|PMID:10610467|PMID:10617660|PMID:10850966|PMID:10978365|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11113119|PMID:11158969|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11968089|PMID:12084606|PMID:12186860|PMID:12409295|PMID:12473556|PMID:12707239|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15631686|PMID:15958377|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16326803|PMID:16715312|PMID:16777946|PMID:16858239|PMID:17101185|PMID:17456375|PMID:17576681|PMID:17612745|PMID:17932326|PMID:18029407|PMID:18258667|PMID:18403758|PMID:18533079|PMID:18612386|PMID:18651846|PMID:18809796|PMID:19033660|PMID:19087273|PMID:19150014|PMID:19487599|PMID:19880069|PMID:19914256|PMID:19996403|PMID:2003160|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20159828|PMID:20414521|PMID:20439259|PMID:20513729|PMID:20624503|PMID:20800588|PMID:21185001|PMID:21245263|PMID:21310275|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22144547|PMID:22321274|PMID:22334656|PMID:22500102|PMID:22579624|PMID:22675533|PMID:22857948|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23396983|PMID:23494605|PMID:23663841|PMID:23674365|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24367593|PMID:24418317|PMID:24691700|PMID:24793961|PMID:25031304|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25741868|PMID:25849606|PMID:26183555|PMID:26507537|PMID:26656175|PMID:26681313|PMID:26743238|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27036851|PMID:27483260|PMID:27532257|PMID:27600940|PMID:27707468|PMID:27930701|PMID:28073646|PMID:28193612|PMID:28408708|PMID:28420666|PMID:28492532|PMID:28566242|PMID:28735292|PMID:28771489|PMID:28790153|PMID:28971120|PMID:28973951|PMID:29121657|PMID:2946667|PMID:30297972|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31941943|PMID:32290750|PMID:32581830|PMID:32690703|PMID:33025817|PMID:33148509|PMID:33297573|PMID:33559798|PMID:34008892|PMID:34426522|PMID:34699384|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9060892|PMID:9140840|PMID:9201030|PMID:9536098|PMID:9637714|PMID:9788962 12023840 TNNT2 troponin T2, cardiac type gene DOID:12716 newborn respiratory distress syndrome ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10789933 12023840 TNNT2 troponin T2, cardiac type gene DOID:1287 cardiovascular system disease ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14761428 12023840 TNNT2 troponin T2, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:732398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11684629|PMID:12818575|PMID:12881443|PMID:12923187|PMID:14636924|PMID:14654368|PMID:15464434|PMID:15542288|PMID:15623536|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:17101185|PMID:17278368|PMID:17932326|PMID:18056765|PMID:18154728|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18606313|PMID:19253838|PMID:19324435|PMID:19412328|PMID:20031601|PMID:20031618|PMID:20083571|PMID:20215591|PMID:20298698|PMID:20973921|PMID:21310275|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21551322|PMID:21846512|PMID:22292720|PMID:22464770|PMID:22517884|PMID:22675533|PMID:22958901|PMID:23074333|PMID:23349452|PMID:23539503|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24503780|PMID:24992688|PMID:25611685|PMID:25681424|PMID:25741868|PMID:26084686|PMID:26507537|PMID:26656454|PMID:26779504|PMID:27411801|PMID:27532257|PMID:27576561|PMID:27757084|PMID:28255936|PMID:28352236|PMID:28416588|PMID:28492532|PMID:28669108|PMID:29121657|PMID:29367539|PMID:29367541|PMID:29773157|PMID:30565988|PMID:31333075|PMID:31568572|PMID:7898523 12023840 TNNT2 troponin T2, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:732398 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11684629|PMID:12818575|PMID:12881443|PMID:12923187|PMID:14636924|PMID:14654368|PMID:15464434|PMID:15542288|PMID:15623536|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:17101185|PMID:17278368|PMID:17932326|PMID:18056765|PMID:18154728|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18606313|PMID:19253838|PMID:19324435|PMID:19412328|PMID:20031601|PMID:20031618|PMID:20083571|PMID:20215591|PMID:20298698|PMID:20973921|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21551322|PMID:21846512|PMID:22292720|PMID:22464770|PMID:22517884|PMID:22675533|PMID:22958901|PMID:23074333|PMID:23349452|PMID:23539503|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24503780|PMID:24992688|PMID:25611685|PMID:25681424|PMID:25741868|PMID:26084686|PMID:26507537|PMID:26656454|PMID:26779504|PMID:27153395|PMID:27411801|PMID:27532257|PMID:27576561|PMID:27757084|PMID:28255936|PMID:28352236|PMID:28416588|PMID:28492532|PMID:28669108|PMID:28973951|PMID:29367539|PMID:29367541|PMID:29773157|PMID:30565988|PMID:31333075|PMID:31568572|PMID:32659924|PMID:32690703|PMID:32880476|PMID:33025817|PMID:33297573|PMID:34213952|PMID:34540771|PMID:7898523 12023840 TNNT2 troponin T2, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:732398 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11684629|PMID:12818575|PMID:12881443|PMID:12923187|PMID:14636924|PMID:14654368|PMID:15464434|PMID:15542288|PMID:15623536|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:17101185|PMID:17278368|PMID:17932326|PMID:18056765|PMID:18154728|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18606313|PMID:19253838|PMID:19324435|PMID:19412328|PMID:20031601|PMID:20031618|PMID:20083571|PMID:20215591|PMID:20298698|PMID:20973921|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21551322|PMID:21846512|PMID:22292720|PMID:22464770|PMID:22517884|PMID:22675533|PMID:22958901|PMID:23074333|PMID:23349452|PMID:23539503|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24503780|PMID:24992688|PMID:25611685|PMID:25681424|PMID:25741868|PMID:26084686|PMID:26095046|PMID:26507537|PMID:26656454|PMID:26779504|PMID:27153395|PMID:27411801|PMID:27532257|PMID:27576561|PMID:27757084|PMID:28246128|PMID:28255936|PMID:28352236|PMID:28416588|PMID:28492532|PMID:28588840|PMID:28669108|PMID:28973951|PMID:29367539|PMID:29367541|PMID:29773157|PMID:30297972|PMID:30565988|PMID:30763825|PMID:30847666|PMID:30871747|PMID:31333075|PMID:31373515|PMID:31568572|PMID:31937807|PMID:31983221|PMID:32659924|PMID:32690703|PMID:32880476|PMID:33025817|PMID:33297573|PMID:34213952|PMID:34540771|PMID:34853230|PMID:7898523 12023840 TNNT2 troponin T2, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:732398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11684629|PMID:12818575|PMID:12881443|PMID:12923187|PMID:14636924|PMID:14654368|PMID:15464434|PMID:15542288|PMID:15623536|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:17101185|PMID:17278368|PMID:17932326|PMID:18056765|PMID:18154728|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18606313|PMID:19253838|PMID:19324435|PMID:19412328|PMID:20031601|PMID:20031618|PMID:20083571|PMID:20215591|PMID:20298698|PMID:20973921|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21551322|PMID:21846512|PMID:22292720|PMID:22464770|PMID:22517884|PMID:22675533|PMID:22958901|PMID:23074333|PMID:23349452|PMID:23539503|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24503780|PMID:24992688|PMID:25611685|PMID:25681424|PMID:25741868|PMID:26084686|PMID:26095046|PMID:26498512|PMID:26507537|PMID:26656454|PMID:26779504|PMID:27153395|PMID:27411801|PMID:27532257|PMID:27576561|PMID:27757084|PMID:28246128|PMID:28255936|PMID:28352236|PMID:28416588|PMID:28492532|PMID:28588840|PMID:28669108|PMID:28973951|PMID:29121657|PMID:29367539|PMID:29367541|PMID:29773157|PMID:30297972|PMID:30565988|PMID:30763825|PMID:30847666|PMID:30871747|PMID:31333075|PMID:31373515|PMID:31568572|PMID:31937807|PMID:31983221|PMID:32659924|PMID:32690703|PMID:32880476|PMID:33025817|PMID:33297573|PMID:34161147|PMID:34213952|PMID:34540771|PMID:34853230|PMID:7898523 12023840 TNNT2 troponin T2, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:732398 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11684629|PMID:12818575|PMID:12881443|PMID:12923187|PMID:14636924|PMID:14654368|PMID:15464434|PMID:15542288|PMID:15623536|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:17101185|PMID:17278368|PMID:17932326|PMID:18056765|PMID:18154728|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18606313|PMID:19253838|PMID:19324435|PMID:19412328|PMID:20031601|PMID:20031618|PMID:20083571|PMID:20215591|PMID:20298698|PMID:20973921|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21551322|PMID:21846512|PMID:22292720|PMID:22464770|PMID:22517884|PMID:22675533|PMID:22958901|PMID:23074333|PMID:23349452|PMID:23539503|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24503780|PMID:24992688|PMID:25611685|PMID:25681424|PMID:25741868|PMID:26084686|PMID:26095046|PMID:26498512|PMID:26507537|PMID:26656454|PMID:26779504|PMID:27153395|PMID:27411801|PMID:27532257|PMID:27576561|PMID:27757084|PMID:28246128|PMID:28255936|PMID:28352236|PMID:28416588|PMID:28492532|PMID:28588840|PMID:28669108|PMID:28973951|PMID:29121657|PMID:29367539|PMID:29367541|PMID:29773157|PMID:30297972|PMID:30565988|PMID:30763825|PMID:30847666|PMID:30871747|PMID:31333075|PMID:31373515|PMID:31568572|PMID:31937807|PMID:31983221|PMID:32618513|PMID:32659924|PMID:32690703|PMID:32880476|PMID:33025817|PMID:33297573|PMID:34161147|PMID:34213952|PMID:34540771|PMID:34853230|PMID:7898523 12023840 TNNT2 troponin T2, cardiac type gene DOID:1540 parathyroid carcinoma ISO RGD:732398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12023840 TNNT2 troponin T2, cardiac type gene DOID:2752 glycogen storage disease II ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26787432 12023840 TNNT2 troponin T2, cardiac type gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18068611 12023840 TNNT2 troponin T2, cardiac type gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:732398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:14636924|PMID:16858239|PMID:18533079|PMID:25524337|PMID:25741868|PMID:27532257|PMID:28492532 12023840 TNNT2 troponin T2, cardiac type gene DOID:397 restrictive cardiomyopathy ISO RGD:732398 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy | ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:10525521|PMID:10978365|PMID:11606294|PMID:12818575|PMID:12881443|PMID:14636924|PMID:14654368|PMID:14722098|PMID:15542288|PMID:15958377|PMID:17101185|PMID:20031602|PMID:20624503|PMID:22112859|PMID:23283745|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24111713|PMID:25741868|PMID:27074551|PMID:28492532|PMID:29907873|PMID:7898523 12023840 TNNT2 troponin T2, cardiac type gene DOID:5844 myocardial infarction ISO RGD:732398 D RGD:9068941 20200609 RGD PMID:15226628|REF_RGD_ID:1580441 12023840 TNNT2 troponin T2, cardiac type gene DOID:6000 congestive heart failure ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12322705|PMID:17698733 12023840 TNNT2 troponin T2, cardiac type gene DOID:9000006 Supraventricular Tachycardia ISO RGD:732398 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Supraventricular tachycardia PMID:15631686|PMID:16754800|PMID:19645627|PMID:21846512|PMID:22017532|PMID:22455086|PMID:22958901|PMID:23233322|PMID:23299917|PMID:24033266|PMID:24055113|PMID:24503780|PMID:25351510|PMID:25637381|PMID:25741868|PMID:28087566|PMID:28492532|PMID:30871747 12023840 TNNT2 troponin T2, cardiac type gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:732398 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:12818575|PMID:12881443|PMID:14636924|PMID:15542288|PMID:15958377|PMID:17101185|PMID:17576681|PMID:22958901|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24503780|PMID:24992688|PMID:25741868|PMID:26507537|PMID:27153395|PMID:28255936|PMID:28492532|PMID:28973951|PMID:30297972|PMID:30763825|PMID:32880476|PMID:33025817|PMID:34213952|PMID:34540771|PMID:7898523|PMID:9536098 12023840 TNNT2 troponin T2, cardiac type gene DOID:9001686 Acute Coronary Syndrome ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15966572 12023840 TNNT2 troponin T2, cardiac type gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14618274 12023840 TNNT2 troponin T2, cardiac type gene DOID:9003936 Cardiomegaly ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17556660 12023840 TNNT2 troponin T2, cardiac type gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:732398 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12023840 TNNT2 troponin T2, cardiac type gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:732398 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Increased left ventricular wall thickness | ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:15631686|PMID:16754800|PMID:19645627|PMID:21846512|PMID:22017532|PMID:22455086|PMID:22958901|PMID:23233322|PMID:23299917|PMID:24033266|PMID:24055113|PMID:24503780|PMID:25351510|PMID:25637381|PMID:25741868|PMID:28087566|PMID:28492532|PMID:30871747 12023840 TNNT2 troponin T2, cardiac type gene DOID:9005141 Ventricular Tachycardia ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12600890 12023840 TNNT2 troponin T2, cardiac type gene DOID:9005749 Necrosis ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17848144 12023840 TNNT2 troponin T2, cardiac type gene DOID:9007102 Myocardial Ischemia ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10789933 12023840 TNNT2 troponin T2, cardiac type gene DOID:9007588 Heart Injuries ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19854236 12023840 TNNT2 troponin T2, cardiac type gene DOID:9007925 Sudden Cardiac Death ISO RGD:732398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:23233322|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532 12023840 TNNT2 troponin T2, cardiac type gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12023879 RNF149 ring finger protein 149 gene DOID:630 genetic disease ISO RGD:1318240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12023890 IL23R interleukin 23 receptor gene DOID:0050589 inflammatory bowel disease ISO RGD:1351657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983784|PMID:23291587|PMID:26192919 12023890 IL23R interleukin 23 receptor gene DOID:0081120 Graves ophthalmopathy no_association ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNPs: :rs10889677,rs2201841(human) PMID:22663548|REF_RGD_ID:7421521 12023890 IL23R interleukin 23 receptor gene DOID:0081120 Graves ophthalmopathy susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2201841,rs10889677(human) PMID:18073300|REF_RGD_ID:8549554 12023890 IL23R interleukin 23 receptor gene DOID:0110883 inflammatory bowel disease 17 ISO RGD:1351657 D RGD:7240710 20180130 OMIM 12023890 IL23R interleukin 23 receptor gene DOID:0110883 inflammatory bowel disease 17 ISO RGD:1351657 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 17 | ClinVar Annotator: match by term: Inflammatory bowel disease 17, protection against PMID:12023369|PMID:17068223|PMID:17447842|PMID:17587057|PMID:17786191|PMID:17804789|PMID:18438406|PMID:19122664|PMID:20228799|PMID:25741868|PMID:28492532 12023890 IL23R interleukin 23 receptor gene DOID:0111279 psoriasis 7 ISO RGD:1351657 D RGD:7240710 20230505 OMIM 12023890 IL23R interleukin 23 receptor gene DOID:1024 leprosy ISO RGD:1351657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22019778 12023890 IL23R interleukin 23 receptor gene DOID:1059 intellectual disability ISO RGD:1351657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12023890 IL23R interleukin 23 receptor gene DOID:10608 celiac disease ISO RGD:1351657 D RGD:9068941 20200609 RGD PMID:19175939|REF_RGD_ID:8549604 12023890 IL23R interleukin 23 receptor gene DOID:10608 celiac disease susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.R381Q(rs11209026)(human) PMID:18368064|REF_RGD_ID:8549631 12023890 IL23R interleukin 23 receptor gene DOID:11335 sarcoidosis susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNPs:introns,exon:rs7517847,rs11465804,rs11209026(human) PMID:21846945|REF_RGD_ID:8549545 12023890 IL23R interleukin 23 receptor gene DOID:12361 Graves' disease no_association ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2201841,rs10889677,rs7530511(human) PMID:19021011|REF_RGD_ID:8549564 12023890 IL23R interleukin 23 receptor gene DOID:12361 Graves' disease susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNP: :rs7530511(human) PMID:18073300|REF_RGD_ID:8549554 12023890 IL23R interleukin 23 receptor gene DOID:12894 Sjogren's syndrome ISO RGD:1351657 D RGD:9068941 20200609 RGD protein:increased expression:minor salivary gland: PMID:22262980|REF_RGD_ID:8549566 12023890 IL23R interleukin 23 receptor gene DOID:13141 uveitis susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD associated with Sarcoidosis;DNA:SNPs:intron,exon:rs11465804,rs11209026(human) PMID:21846945|REF_RGD_ID:8549545 12023890 IL23R interleukin 23 receptor gene DOID:13241 Behcet's disease susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNP: :rs1884444(human) PMID:22483685|REF_RGD_ID:8549550 12023890 IL23R interleukin 23 receptor gene DOID:13241 Behcet's disease susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype::rs17375018, rs11209032(human); PMID:20375120|REF_RGD_ID:8549565 12023890 IL23R interleukin 23 receptor gene DOID:2377 multiple sclerosis ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNPs:cds:p.R381Q(rs11209026),(rs7517847)(human) PMID:18368064|REF_RGD_ID:8549631 12023890 IL23R interleukin 23 receptor gene DOID:2377 multiple sclerosis no_association ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2201841,rs10889677,s7517847(human) PMID:24547735|REF_RGD_ID:8549632 12023890 IL23R interleukin 23 receptor gene DOID:2841 asthma ISO RGD:1622129 D RGD:9068941 20200609 RGD PMID:19935773|REF_RGD_ID:5037240 12023890 IL23R interleukin 23 receptor gene DOID:418 systemic scleroderma ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNPs: :rs11209026, rs11465804 (human) PMID:19918037|REF_RGD_ID:5096624 12023890 IL23R interleukin 23 receptor gene DOID:418 systemic scleroderma no_association ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNPs: :rs11209032,rs1495965(human) PMID:18713787|REF_RGD_ID:8549603 12023890 IL23R interleukin 23 receptor gene DOID:4483 rhinitis susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :rs7517847(human) PMID:23696856|REF_RGD_ID:8549605 12023890 IL23R interleukin 23 receptor gene DOID:630 genetic disease ISO RGD:1351657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12023890 IL23R interleukin 23 receptor gene DOID:6432 pulmonary hypertension ISO RGD:1351657 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;DNA:SNPs: :rs11209026, rs11465804 (human) PMID:19918037|REF_RGD_ID:5096624 12023890 IL23R interleukin 23 receptor gene DOID:7147 ankylosing spondylitis ISO RGD:1351657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17952073|PMID:20062062 12023890 IL23R interleukin 23 receptor gene DOID:7147 ankylosing spondylitis ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype:multiple: PMID:19522770|REF_RGD_ID:8549549 12023890 IL23R interleukin 23 receptor gene DOID:7147 ankylosing spondylitis no_association ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNP: :rs11209026(human) PMID:19877036|REF_RGD_ID:8549630 12023890 IL23R interleukin 23 receptor gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNP::rs1343151(human) PMID:18647855|REF_RGD_ID:8549596 12023890 IL23R interleukin 23 receptor gene DOID:848 arthritis susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD associated with Psoriasis;DNA:haplotype::rs7530511, rs11209026(human) PMID:19035472|REF_RGD_ID:8549572 12023890 IL23R interleukin 23 receptor gene DOID:8577 ulcerative colitis ISO RGD:1351657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438406|PMID:19122664|PMID:20228799 12023890 IL23R interleukin 23 receptor gene DOID:8577 ulcerative colitis ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNP,Haplotype: :rs1884444(human) PMID:23093364|REF_RGD_ID:8549574 12023890 IL23R interleukin 23 receptor gene DOID:8778 Crohn's disease ISO RGD:1351657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17435756|PMID:18438406 12023890 IL23R interleukin 23 receptor gene DOID:8778 Crohn's disease susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNPs:multiple: PMID:17068223|REF_RGD_ID:8549568 12023890 IL23R interleukin 23 receptor gene DOID:8893 psoriasis ISO RGD:1351657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Psoriasis, protection against PMID:12023369|PMID:17068223|PMID:17447842|PMID:17587057|PMID:17786191|PMID:17804789|PMID:18438406|PMID:19122664|PMID:20228799|PMID:28492532 12023890 IL23R interleukin 23 receptor gene DOID:8893 psoriasis susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNP: :rs11805303(human) PMID:20978829|REF_RGD_ID:8549602 12023890 IL23R interleukin 23 receptor gene DOID:8893 psoriasis susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.R381Q(human) PMID:17587057|REF_RGD_ID:8549569 12023890 IL23R interleukin 23 receptor gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:1586368 D RGD:9068941 20200609 RGD mRNA:increased expression:lymph node PMID:21193288|REF_RGD_ID:5108250 12023890 IL23R interleukin 23 receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:1351657 D RGD:9068941 20200609 RGD protein:increased expression:T cell: PMID:21110900|REF_RGD_ID:8549601 12023905 ARMH3 armadillo like helical domain containing 3 gene DOID:0060224 atrial fibrillation ISO RGD:1313900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12023937 ZKSCAN7 zinc finger with KRAB and SCAN domains 7 gene DOID:630 genetic disease ISO RGD:1313155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12023957 VPS8 VPS8 subunit of CORVET complex gene DOID:0111546 Currarino syndrome ISO RGD:1603690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12023957 VPS8 VPS8 subunit of CORVET complex gene DOID:630 genetic disease ISO RGD:1603690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12023957 VPS8 VPS8 subunit of CORVET complex gene DOID:9006836 Contracture ISO RGD:1603690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures PMID:26752647 12024018 UBE2H ubiquitin conjugating enzyme E2 H gene DOID:11612 polycystic ovary syndrome ISO RGD:1320678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12024018 UBE2H ubiquitin conjugating enzyme E2 H gene DOID:12849 autistic disorder ISO RGD:1320678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14639049 12024018 UBE2H ubiquitin conjugating enzyme E2 H gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12024018 UBE2H ubiquitin conjugating enzyme E2 H gene DOID:630 genetic disease ISO RGD:1320678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12024030 ZSCAN23 zinc finger and SCAN domain containing 23 gene DOID:11372 megacolon ISO RGD:1353335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12024030 ZSCAN23 zinc finger and SCAN domain containing 23 gene DOID:630 genetic disease ISO RGD:1353335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12024055 DDX59 DEAD-box helicase 59 gene DOID:0060375 orofaciodigital syndrome V ISO RGD:1606490 D RGD:7240710 20180130 OMIM 12024055 DDX59 DEAD-box helicase 59 gene DOID:0060375 orofaciodigital syndrome V ISO RGD:1606490 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome V PMID:16278897|PMID:23972372|PMID:25741868|PMID:28492532|PMID:28711741|PMID:29127725|PMID:34008892 12024055 DDX59 DEAD-box helicase 59 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12024055 DDX59 DEAD-box helicase 59 gene DOID:1540 parathyroid carcinoma ISO RGD:1606490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12024055 DDX59 DEAD-box helicase 59 gene DOID:630 genetic disease ISO RGD:1606490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12024055 DDX59 DEAD-box helicase 59 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606490 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12024055 DDX59 DEAD-box helicase 59 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12024073 DSC1 desmocollin 1 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1321863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis PMID:28492532 12024073 DSC1 desmocollin 1 gene DOID:1059 intellectual disability ISO RGD:1321863 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12024073 DSC1 desmocollin 1 gene DOID:1909 melanoma ISO RGD:1321863 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22197931 12024073 DSC1 desmocollin 1 gene DOID:630 genetic disease ISO RGD:1321863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12024073 DSC1 desmocollin 1 gene DOID:9001004 Chronic Periodontitis ISO RGD:1321863 D RGD:9068941 20200609 RGD mRNA:decreased expression:gingival tissues PMID:21382035|REF_RGD_ID:6480655 12024096 YJU2 YJU2 splicing factor homolog gene DOID:13938 amenorrhea ISO RGD:1603997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12024160 ZMYND19 zinc finger MYND-type containing 19 gene DOID:0050777 Joubert syndrome ISO RGD:1353400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12024160 ZMYND19 zinc finger MYND-type containing 19 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1353400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 12024160 ZMYND19 zinc finger MYND-type containing 19 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1353400 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 12024160 ZMYND19 zinc finger MYND-type containing 19 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1353400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12024160 ZMYND19 zinc finger MYND-type containing 19 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353400 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12024160 ZMYND19 zinc finger MYND-type containing 19 gene DOID:0081097 Rafiq syndrome ISO RGD:1353400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12024160 ZMYND19 zinc finger MYND-type containing 19 gene DOID:1826 epilepsy ISO RGD:1353400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12024160 ZMYND19 zinc finger MYND-type containing 19 gene DOID:630 genetic disease ISO RGD:1353400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12024160 ZMYND19 zinc finger MYND-type containing 19 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1353400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12024179 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide gene DOID:0060041 autism spectrum disorder ISO RGD:1351578 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12024179 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide gene DOID:0080952 AMED syndrome ISO RGD:1351578 D RGD:7240710 20210210 OMIM 12024179 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide gene DOID:0080952 AMED syndrome ISO RGD:1351578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AMED syndrome, digenic PMID:25741868|PMID:33355142 12024179 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide gene DOID:13580 cholestasis ISO RGD:2292706 D RGD:9068941 20220922 RGD mRNA, protein:decreased expression:liver PMID:19806079|REF_RGD_ID:5129088 12024179 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide gene DOID:1574 alcohol use disorder ISO RGD:2292706 D RGD:9068941 20220922 RGD PMID:8462548|REF_RGD_ID:5129091 12024179 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide gene DOID:2841 asthma ISO RGD:1351578 D RGD:9068941 20200609 RGD PMID:19514054|REF_RGD_ID:5128890 12024179 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide gene DOID:2841 asthma ISO RGD:1351578 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:19395503|REF_RGD_ID:5128891 12024179 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide gene DOID:2841 asthma ISO RGD:1615209 D RGD:9068941 20200609 RGD PMID:15919956|REF_RGD_ID:5128892 12024179 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide gene DOID:2841 asthma susceptibility ISO RGD:1351578 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1154404, rs28730619 (human) PMID:17543375|REF_RGD_ID:5128882 12024179 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide gene DOID:630 genetic disease ISO RGD:1351578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12024179 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide gene DOID:6432 pulmonary hypertension ISO RGD:1615209 D RGD:9068941 20200609 RGD PMID:20431245|REF_RGD_ID:5128886 12024200 ASXL3 ASXL transcriptional regulator 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1344717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12024200 ASXL3 ASXL transcriptional regulator 3 gene DOID:0060751 familial temporal lobe epilepsy 7 ISO RGD:1344717 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 7 PMID:25741868 12024200 ASXL3 ASXL transcriptional regulator 3 gene DOID:0080893 Bainbridge-Ropers syndrome ISO RGD:1344717 D RGD:7240710 20180130 OMIM 12024200 ASXL3 ASXL transcriptional regulator 3 gene DOID:0080893 Bainbridge-Ropers syndrome ISO RGD:1344717 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bainbridge-Ropers syndrome PMID:23383720|PMID:25326635|PMID:25590979|PMID:25741868|PMID:26539891|PMID:26640146|PMID:26647312|PMID:27075689|PMID:27901041|PMID:28100473|PMID:28492532|PMID:29305346|PMID:29367179|PMID:29628764|PMID:30564305|PMID:31180560|PMID:32581362|PMID:32860008 12024200 ASXL3 ASXL transcriptional regulator 3 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1344717 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 12024200 ASXL3 ASXL transcriptional regulator 3 gene DOID:1059 intellectual disability ISO RGD:1344717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:25326635|PMID:25741868|PMID:26647312|PMID:28100473|PMID:31180560 12024200 ASXL3 ASXL transcriptional regulator 3 gene DOID:1826 epilepsy ISO RGD:1344717 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 12024200 ASXL3 ASXL transcriptional regulator 3 gene DOID:630 genetic disease ISO RGD:1344717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23383720|PMID:25326635|PMID:25741868|PMID:26647312|PMID:28100473|PMID:29628764|PMID:31180560 12024200 ASXL3 ASXL transcriptional regulator 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12024200 ASXL3 ASXL transcriptional regulator 3 gene DOID:9005603 Muscle Hypotonia ISO RGD:1344717 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:32581362 12024200 ASXL3 ASXL transcriptional regulator 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1344717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12024200 ASXL3 ASXL transcriptional regulator 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1344717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:32581362 12024216 DNAJB1 DnaJ heat shock protein family (Hsp40) member B1 gene DOID:630 genetic disease ISO RGD:1312336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12024227 CACNA2D3 calcium voltage-gated channel auxiliary subunit alpha2delta 3 gene DOID:630 genetic disease ISO RGD:1349571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12024227 CACNA2D3 calcium voltage-gated channel auxiliary subunit alpha2delta 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 12024272 COL4A3 collagen type IV alpha 3 chain gene DOID:0080046 Stickler syndrome ISO RGD:736518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stickler syndrome PMID:21897443|PMID:24130771|PMID:28492532|PMID:30311386 12024272 COL4A3 collagen type IV alpha 3 chain gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:736518 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:11134255|PMID:12028435|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 12024272 COL4A3 collagen type IV alpha 3 chain gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:736518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:25741868 12024272 COL4A3 collagen type IV alpha 3 chain gene DOID:0110032 autosomal dominant Alport syndrome ISO RGD:736518 D RGD:7240710 20180130 OMIM 12024272 COL4A3 collagen type IV alpha 3 chain gene DOID:0110032 autosomal dominant Alport syndrome ISO RGD:736518 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar Annotator: match by term: Autosomal dominant Alport syndrome | ClinVar Annotator: match by term: Renal failure and sensorineural hearing loss PMID:11044206|PMID:11134255|PMID:11961012|PMID:12028435|PMID:1400291|PMID:14582039|PMID:14871398|PMID:15086897|PMID:15880327|PMID:15954103|PMID:16199547|PMID:17216251|PMID:17576681|PMID:18436078|PMID:19525337|PMID:20301386|PMID:20847057|PMID:21157337|PMID:21897443|PMID:22887978|PMID:23325022|PMID:23927549|PMID:23967202|PMID:24033266|PMID:24033287|PMID:24052634|PMID:24130771|PMID:24262798|PMID:24633401|PMID:24854265|PMID:24944784|PMID:25229338|PMID:25307543|PMID:25407002|PMID:25450602|PMID:25514610|PMID:25525159|PMID:25575550|PMID:25596306|PMID:25741868|PMID:26138234|PMID:26277931|PMID:26346198|PMID:26467025|PMID:26633401|PMID:26795916|PMID:26809805|PMID:26920127|PMID:26934356|PMID:27281700|PMID:27391953|PMID:27485810|PMID:27627812|PMID:27796712|PMID:27859054|PMID:27904025|PMID:27932480|PMID:28117080|PMID:28476686|PMID:28492532|PMID:28542346|PMID:28570636|PMID:28600779|PMID:28632965|PMID:28658201|PMID:28704582|PMID:28780565|PMID:28844315|PMID:29089023|PMID:29098738|PMID:29127259|PMID:29204651|PMID:29271581|PMID:29801666|PMID:29854973|PMID:29924831|PMID:29946535|PMID:30295827|PMID:30311386|PMID:30406062|PMID:30476138|PMID:30487145|PMID:30661074|PMID:30773290|PMID:30819905|PMID:30828794|PMID:30881523|PMID:31027891|PMID:31256874|PMID:31306228|PMID:31387071|PMID:31477057|PMID:31625567|PMID:31807928|PMID:31865346|PMID:32723786|PMID:32860008|PMID:33040356|PMID:33229591|PMID:33369211|PMID:33391746|PMID:33532864|PMID:33774048|PMID:33838161|PMID:33854215|PMID:34013111|PMID:34113375|PMID:34120753|PMID:34426522|PMID:34906502|PMID:35177655|PMID:6138234|PMID:7780062|PMID:7987301|PMID:7987396|PMID:8956999|PMID:9195222|PMID:9269635|PMID:9536098 12024272 COL4A3 collagen type IV alpha 3 chain gene DOID:0110033 autosomal recessive Alport syndrome ISO RGD:736518 D RGD:7240710 20180130 OMIM 12024272 COL4A3 collagen type IV alpha 3 chain gene DOID:0110033 autosomal recessive Alport syndrome ISO RGD:736518 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome PMID:11044206|PMID:11134255|PMID:11961012|PMID:12028435|PMID:1400291|PMID:14582039|PMID:14871398|PMID:15880327|PMID:15954103|PMID:16199547|PMID:17216251|PMID:17396119|PMID:17576681|PMID:18385178|PMID:18436078|PMID:19525337|PMID:20847057|PMID:21157337|PMID:21897443|PMID:22887978|PMID:23297803|PMID:23325022|PMID:23927549|PMID:23967202|PMID:24033266|PMID:24033287|PMID:24052634|PMID:24130771|PMID:24262798|PMID:24633401|PMID:24854265|PMID:24944784|PMID:25229338|PMID:25307543|PMID:25381091|PMID:25407002|PMID:25450602|PMID:25514610|PMID:25525159|PMID:25575550|PMID:25596306|PMID:25741868|PMID:25888712|PMID:26138234|PMID:26277931|PMID:26346198|PMID:26467025|PMID:26594346|PMID:26795916|PMID:26809805|PMID:26934356|PMID:27281700|PMID:27485810|PMID:27627812|PMID:27796712|PMID:27859054|PMID:27932480|PMID:28117080|PMID:28492532|PMID:28542346|PMID:28570636|PMID:28632965|PMID:28658201|PMID:28780565|PMID:29098738|PMID:29100090|PMID:29127259|PMID:29204651|PMID:29270492|PMID:29271581|PMID:29801666|PMID:29854973|PMID:29924831|PMID:29946535|PMID:30311386|PMID:30406062|PMID:30476138|PMID:30487145|PMID:30661074|PMID:30773290|PMID:30819905|PMID:30881523|PMID:31027891|PMID:31256874|PMID:31306228|PMID:31387071|PMID:31477057|PMID:31807928|PMID:31865346|PMID:31925849|PMID:32860008|PMID:33040356|PMID:33229591|PMID:33369211|PMID:33391746|PMID:33532864|PMID:33772369|PMID:33774048|PMID:33838161|PMID:33851121|PMID:33854215|PMID:34013111|PMID:34120753|PMID:34400539|PMID:34426522|PMID:35177655|PMID:6138234|PMID:7633417|PMID:7780062|PMID:7987301|PMID:7987396|PMID:8956999|PMID:9195222|PMID:9269635|PMID:9536098|PMID:9647515 12024272 COL4A3 collagen type IV alpha 3 chain gene DOID:0111365 benign familial hematuria ISO RGD:736518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Benign familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria | ClinVar Annotator: match by term: Thin basement membrane nephropathy PMID:11134255|PMID:11961012|PMID:12028435|PMID:14582039|PMID:14871398|PMID:15880327|PMID:17216251|PMID:19525337|PMID:23325022|PMID:24033266|PMID:24052634|PMID:25229338|PMID:25307543|PMID:25575550|PMID:25741868|PMID:26809805|PMID:27627812|PMID:28492532|PMID:29098738|PMID:29854973|PMID:30476138|PMID:30661074|PMID:33532864 12024272 COL4A3 collagen type IV alpha 3 chain gene DOID:10983 Alport syndrome ISO RGD:736518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alport syndrome PMID:11044206|PMID:11134255|PMID:11961012|PMID:12028435|PMID:1400291|PMID:14582039|PMID:14871398|PMID:15880327|PMID:15954103|PMID:16199547|PMID:17216251|PMID:18385178|PMID:18436078|PMID:19525337|PMID:20847057|PMID:21157337|PMID:21862460|PMID:21897443|PMID:22887978|PMID:23927549|PMID:23967202|PMID:24033266|PMID:24052634|PMID:24130771|PMID:24633401|PMID:24854265|PMID:24944784|PMID:25229338|PMID:25307543|PMID:25407002|PMID:25450602|PMID:25514610|PMID:25575550|PMID:25596306|PMID:25741868|PMID:25888712|PMID:26277931|PMID:26346198|PMID:26467025|PMID:26795916|PMID:26809805|PMID:26934356|PMID:27281700|PMID:27391953|PMID:27485810|PMID:27627812|PMID:27859054|PMID:27932480|PMID:28117080|PMID:28492532|PMID:28542346|PMID:28570636|PMID:28632965|PMID:28658201|PMID:28780565|PMID:29127259|PMID:29204651|PMID:29270492|PMID:29271581|PMID:29854973|PMID:29924831|PMID:30245029|PMID:30295827|PMID:30311386|PMID:30406062|PMID:30661074|PMID:30773290|PMID:30819905|PMID:30881523|PMID:30883042|PMID:31027891|PMID:31256874|PMID:31477057|PMID:31865346|PMID:32860008|PMID:33369211|PMID:33532864|PMID:7780062|PMID:7987301|PMID:7987396|PMID:8956999|PMID:9195222|PMID:9269635 12024272 COL4A3 collagen type IV alpha 3 chain gene DOID:10983 Alport syndrome ISO RGD:736518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria PMID:11044206|PMID:11134255|PMID:11961012|PMID:12028435|PMID:1400291|PMID:14582039|PMID:14871398|PMID:15880327|PMID:15954103|PMID:16199547|PMID:17216251|PMID:17576681|PMID:18385178|PMID:18436078|PMID:19525337|PMID:20847057|PMID:21157337|PMID:21862460|PMID:21897443|PMID:22887978|PMID:23325022|PMID:23927549|PMID:23967202|PMID:24033266|PMID:24052634|PMID:24130771|PMID:24633401|PMID:24854265|PMID:24944784|PMID:25229338|PMID:25307543|PMID:25407002|PMID:25450602|PMID:25514610|PMID:25575550|PMID:25596306|PMID:25741868|PMID:25888712|PMID:26277931|PMID:26346198|PMID:26467025|PMID:26795916|PMID:26809805|PMID:26934356|PMID:27281700|PMID:27391953|PMID:27485810|PMID:27627812|PMID:27859054|PMID:27932480|PMID:28117080|PMID:28492532|PMID:28542346|PMID:28570636|PMID:28632965|PMID:28658201|PMID:28780565|PMID:29098738|PMID:29127259|PMID:29204651|PMID:29270492|PMID:29271581|PMID:29801666|PMID:29854973|PMID:29924831|PMID:29946535|PMID:30245029|PMID:30295827|PMID:30311386|PMID:30406062|PMID:30476138|PMID:30487145|PMID:30661074|PMID:30773290|PMID:30819905|PMID:30881523|PMID:30883042|PMID:31027891|PMID:31256874|PMID:31477057|PMID:31865346|PMID:32723786|PMID:32860008|PMID:33040356|PMID:33229591|PMID:33369211|PMID:33532864|PMID:33774048|PMID:34013111|PMID:34426522|PMID:35177655|PMID:7780062|PMID:7987301|PMID:7987396|PMID:8956999|PMID:9195222|PMID:9269635|PMID:9536098 12024272 COL4A3 collagen type IV alpha 3 chain gene DOID:10983 Alport syndrome susceptibility ISO RGD:736518 D RGD:9068941 20200609 RGD DNA:deletion, nonsense mutations PMID:7987301|REF_RGD_ID:1600924 12024272 COL4A3 collagen type IV alpha 3 chain gene DOID:1184 nephrotic syndrome ISO RGD:736518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:28492532|PMID:28844315|PMID:30828794|PMID:34113375 12024272 COL4A3 collagen type IV alpha 3 chain gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:736518 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:14871398|PMID:17216251|PMID:18385178|PMID:24033266|PMID:24854265|PMID:25741868|PMID:26346198|PMID:26467025|PMID:28492532|PMID:29924831|PMID:30245029 12024272 COL4A3 collagen type IV alpha 3 chain gene DOID:2921 glomerulonephritis ISO RGD:71085 D RGD:9068941 20200609 RGD PMID:11158397|REF_RGD_ID:1600928 12024272 COL4A3 collagen type IV alpha 3 chain gene DOID:557 kidney disease ISO RGD:736518 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:12028435|PMID:14582039|PMID:14871398|PMID:15880327|PMID:17216251|PMID:19525337|PMID:21862460|PMID:22887978|PMID:23325022|PMID:24033266|PMID:24052634|PMID:25229338|PMID:25514610|PMID:25741868|PMID:26467025|PMID:26934356|PMID:27627812|PMID:28492532|PMID:29098738|PMID:29854973|PMID:30476138|PMID:30661074 12024272 COL4A3 collagen type IV alpha 3 chain gene DOID:576 proteinuria ISO RGD:736518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:25741868|PMID:28492532 12024272 COL4A3 collagen type IV alpha 3 chain gene DOID:630 genetic disease ISO RGD:736518 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24854265|PMID:25741868|PMID:26809805|PMID:27281700|PMID:28492532|PMID:33040356|PMID:8956999 12024272 COL4A3 collagen type IV alpha 3 chain gene DOID:783 end stage renal disease ISO RGD:736518 D RGD:9068941 20200609 RGD PMID:19357112|REF_RGD_ID:7242047 12024272 COL4A3 collagen type IV alpha 3 chain gene DOID:784 chronic kidney disease ISO RGD:736518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:14871398|PMID:17216251|PMID:24033266|PMID:24854265|PMID:25741868|PMID:26346198|PMID:26467025|PMID:27391953|PMID:28492532|PMID:29924831|PMID:30245029|PMID:32723786 12024272 COL4A3 collagen type IV alpha 3 chain gene DOID:9000363 Hematuria ISO RGD:736518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hematuria | ClinVar Annotator: match by term: Macroscopic hematuria PMID:16199547|PMID:24854265|PMID:25307543|PMID:25741868|PMID:26809805|PMID:27281700|PMID:28492532|PMID:8956999 12024272 COL4A3 collagen type IV alpha 3 chain gene DOID:9003097 Benign Familial Hematuria 2 ISO RGD:736518 D RGD:7240710 20230505 OMIM 12024272 COL4A3 collagen type IV alpha 3 chain gene DOID:9004538 Hearing Loss ISO RGD:736518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hereditary hearing loss and deafness PMID:11044206|PMID:11961012|PMID:12028435|PMID:14582039|PMID:14871398|PMID:17216251|PMID:21157337|PMID:21897443|PMID:23967202|PMID:24033266|PMID:24130771|PMID:25229338|PMID:25307543|PMID:25741868|PMID:26346198|PMID:26467025|PMID:26809805|PMID:27932480|PMID:28492532|PMID:28658201|PMID:29204651|PMID:29271581|PMID:30311386|PMID:30819905|PMID:31027891|PMID:31256874|PMID:31477057|PMID:31865346|PMID:7987301|PMID:9269635 12024272 COL4A3 collagen type IV alpha 3 chain gene DOID:9004538 Hearing Loss ISO RGD:736518 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hereditary hearing loss and deafness PMID:11044206|PMID:11134255|PMID:11961012|PMID:12028435|PMID:14582039|PMID:14871398|PMID:17216251|PMID:21157337|PMID:21897443|PMID:23967202|PMID:24033266|PMID:24130771|PMID:25229338|PMID:25307543|PMID:25741868|PMID:26346198|PMID:26467025|PMID:26809805|PMID:27932480|PMID:28117080|PMID:28492532|PMID:28658201|PMID:29204651|PMID:29271581|PMID:30311386|PMID:30819905|PMID:31027891|PMID:31256874|PMID:31477057|PMID:31865346|PMID:7987301|PMID:9269635 12024272 COL4A3 collagen type IV alpha 3 chain gene DOID:9006352 Benign Familial Hematuria 1 ISO RGD:736518 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: HEMATURIA, BENIGN FAMILIAL, 1 PMID:11134255|PMID:12028435|PMID:14582039|PMID:14871398|PMID:15880327|PMID:17216251|PMID:19525337|PMID:23325022|PMID:24033266|PMID:24052634|PMID:25229338|PMID:25307543|PMID:25741868|PMID:26809805|PMID:27627812|PMID:28492532|PMID:29098738|PMID:29854973|PMID:30476138|PMID:30661074 12024272 COL4A3 collagen type IV alpha 3 chain gene DOID:9006608 Lung Carcinoid Tumors severity ISO RGD:736518 D RGD:9068941 20220303 RGD mRNA:decreased expression:lung (human) PMID:25105010|REF_RGD_ID:151660336 12024352 ELAVL1 ELAV like RNA binding protein 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1318543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12024352 ELAVL1 ELAV like RNA binding protein 1 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1318543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 12024352 ELAVL1 ELAV like RNA binding protein 1 gene DOID:12849 autistic disorder ISO RGD:1318543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12024352 ELAVL1 ELAV like RNA binding protein 1 gene DOID:289 endometriosis ISO RGD:1318543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20889954 12024352 ELAVL1 ELAV like RNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1318543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12024361 LOC100976656 putative solute carrier organic anion transporter family member 1B7 gene DOID:630 genetic disease ISO RGD:1602168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12024377 GLE1 GLE1 RNA export mediator gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316460 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12024377 GLE1 GLE1 RNA export mediator gene DOID:0060558 lethal congenital contracture syndrome ISO RGD:1316460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 12024377 GLE1 GLE1 RNA export mediator gene DOID:0060559 lethal congenital contracture syndrome 1 ISO RGD:1316460 D RGD:7240710 20180130 OMIM 12024377 GLE1 GLE1 RNA export mediator gene DOID:0060559 lethal congenital contracture syndrome 1 ISO RGD:1316460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lethal autosomal recessive syndrome of multiple congenital contractures | ClinVar Annotator: match by term: Lethal congenital contractural syndrome Finnish type | ClinVar Annotator: match by term: Lethal congenital contracture syndrome 1 PMID:16892327|PMID:18204449|PMID:24243016|PMID:24961629|PMID:25741868|PMID:28492532|PMID:28884921|PMID:29899397|PMID:32954510|PMID:7770128 12024377 GLE1 GLE1 RNA export mediator gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316460 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12024377 GLE1 GLE1 RNA export mediator gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1316460 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868|PMID:28492532 12024377 GLE1 GLE1 RNA export mediator gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316460 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12024377 GLE1 GLE1 RNA export mediator gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1316460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease PMID:25741868|PMID:28884921 12024377 GLE1 GLE1 RNA export mediator gene DOID:630 genetic disease ISO RGD:1316460 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18204449|PMID:24961629|PMID:25741868|PMID:28492532|PMID:28884921|PMID:29899397|PMID:32954510 12024377 GLE1 GLE1 RNA export mediator gene DOID:9003573 Congenital Arthrogryposis with Anterior Horn Cell Disease ISO RGD:1316460 D RGD:7240710 20180130 OMIM 12024377 GLE1 GLE1 RNA export mediator gene DOID:9003573 Congenital Arthrogryposis with Anterior Horn Cell Disease ISO RGD:1316460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE | ClinVar Annotator: match by term: Lethal arthrogryposis with anterior horn cell disease PMID:16892327|PMID:18204449|PMID:24243016|PMID:24961629|PMID:25741868|PMID:27684565|PMID:28492532|PMID:28657126|PMID:28884921|PMID:29899397|PMID:32954510|PMID:7770128 12024398 CDYL chromodomain Y like gene DOID:1826 epilepsy ISO RGD:1556912 D RGD:9068941 20220825 MouseDO 12024398 CDYL chromodomain Y like gene DOID:5409 lung small cell carcinoma ISO RGD:1606325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 12024398 CDYL chromodomain Y like gene DOID:630 genetic disease ISO RGD:1606325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12024418 LOC100978081 sorbitol dehydrogenase gene DOID:0050712 AGAT deficiency ISO RGD:735508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 12024418 LOC100978081 sorbitol dehydrogenase gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:735508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:32367058 12024418 LOC100978081 sorbitol dehydrogenase gene DOID:2717 Bloom syndrome ISO RGD:735508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12024418 LOC100978081 sorbitol dehydrogenase gene DOID:4661 multiple chemical sensitivity ISO RGD:735508 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Idiopathic environmental intolerance PMID:25741868|PMID:32367058|PMID:32457452|PMID:33201363|PMID:33381078|PMID:33397963|PMID:33875678|PMID:34819907|PMID:8622605 12024418 LOC100978081 sorbitol dehydrogenase gene DOID:574 peripheral nervous system disease ISO RGD:735508 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:32367058|PMID:32457452|PMID:33201363|PMID:33381078|PMID:33397963|PMID:33875678|PMID:34819907|PMID:8622605 12024418 LOC100978081 sorbitol dehydrogenase gene DOID:630 genetic disease ISO RGD:735508 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32367058|PMID:32457452|PMID:33201363|PMID:33381078|PMID:33397963|PMID:33875678|PMID:34819907|PMID:8622605 12024418 LOC100978081 sorbitol dehydrogenase gene DOID:83 cataract ISO RGD:11332 D RGD:9068941 20220825 MouseDO OMIM:601371 12024418 LOC100978081 sorbitol dehydrogenase gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 12024418 LOC100978081 sorbitol dehydrogenase gene DOID:870 neuropathy ISO RGD:735508 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:32367058|PMID:32457452|PMID:33201363|PMID:33381078|PMID:33397963|PMID:33875678|PMID:34819907|PMID:8622605 12024418 LOC100978081 sorbitol dehydrogenase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3734 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:15064821|REF_RGD_ID:1601360 12024418 LOC100978081 sorbitol dehydrogenase gene DOID:9006739 Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy ISO RGD:735508 D RGD:7240710 20200916 OMIM 12024418 LOC100978081 sorbitol dehydrogenase gene DOID:9006739 Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy ISO RGD:735508 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Sorbitol dehydrogenase deficiency with peripheral neuropathy PMID:25741868|PMID:32367058|PMID:32457452|PMID:33201363|PMID:33381078|PMID:33397963|PMID:33875678|PMID:34819907|PMID:8622605 12024418 LOC100978081 sorbitol dehydrogenase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12763371 12024418 LOC100978081 sorbitol dehydrogenase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3734 D RGD:9068941 20200609 RGD protein:increased activity:heart PMID:14525943|REF_RGD_ID:1601364 12024418 LOC100978081 sorbitol dehydrogenase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:735508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18549825 12024418 LOC100978081 sorbitol dehydrogenase gene DOID:9256 colorectal cancer ISO RGD:735508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12024418 LOC100978081 sorbitol dehydrogenase gene DOID:9743 diabetic neuropathy resistance ISO RGD:3734 D RGD:9068941 20200609 RGD PMID:15755558|REF_RGD_ID:1601362 12024426 ELOA2 elongin A2 gene DOID:0060356 Vici syndrome ISO RGD:1349544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 12024426 ELOA2 elongin A2 gene DOID:10283 prostate cancer ISO RGD:1349544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12024426 ELOA2 elongin A2 gene DOID:1059 intellectual disability ISO RGD:1349544 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12024426 ELOA2 elongin A2 gene DOID:5419 schizophrenia ISO RGD:1349544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12024426 ELOA2 elongin A2 gene DOID:630 genetic disease ISO RGD:1349544 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12024426 ELOA2 elongin A2 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1349544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 12024430 TMOD1 tropomodulin 1 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1605431 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 12024430 TMOD1 tropomodulin 1 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1605431 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 12024430 TMOD1 tropomodulin 1 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1605431 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 12024430 TMOD1 tropomodulin 1 gene DOID:1059 intellectual disability ISO RGD:1605431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12024430 TMOD1 tropomodulin 1 gene DOID:12712 nephronophthisis ISO RGD:1605431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 12024430 TMOD1 tropomodulin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:735256 D RGD:9068941 20220825 MouseDO 12024430 TMOD1 tropomodulin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1605431 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 12024430 TMOD1 tropomodulin 1 gene DOID:5119 ovarian cyst ISO RGD:1605431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12024430 TMOD1 tropomodulin 1 gene DOID:630 genetic disease ISO RGD:1605431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12024430 TMOD1 tropomodulin 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:1605431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 12024430 TMOD1 tropomodulin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12024444 TYMP thymidine phosphorylase gene DOID:0050713 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency ISO RGD:1313979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency PMID:12529715|PMID:23643385|PMID:25741868|PMID:26467025|PMID:28492532 12024444 TYMP thymidine phosphorylase gene DOID:0060041 autism spectrum disorder ISO RGD:1313979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 12024444 TYMP thymidine phosphorylase gene DOID:0060074 ductal carcinoma in situ ISO RGD:1313979 D RGD:9068941 20200609 RGD PMID:9306962|REF_RGD_ID:2293726 12024444 TYMP thymidine phosphorylase gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1313979 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12024444 TYMP thymidine phosphorylase gene DOID:0070331 mitochondrial DNA depletion syndrome 8b ISO RGD:1313979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16972839|PMID:22977166 12024444 TYMP thymidine phosphorylase gene DOID:0080119 mitochondrial DNA depletion syndrome 1 ISO RGD:1313979 D RGD:7240710 20180130 OMIM 12024444 TYMP thymidine phosphorylase gene DOID:0080119 mitochondrial DNA depletion syndrome 1 ISO RGD:1313979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MNGIE, TYMP-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type) PMID:10852545|PMID:12084896|PMID:12177387|PMID:12529715|PMID:14720311|PMID:14757860|PMID:15505189|PMID:15742109|PMID:15781193|PMID:16178026|PMID:16198108|PMID:16199547|PMID:16995425|PMID:17294068|PMID:17437622|PMID:17576681|PMID:18280229|PMID:19056268|PMID:19344718|PMID:19748572|PMID:19853446|PMID:2005900|PMID:20151198|PMID:20232099|PMID:20301358|PMID:21412940|PMID:21794876|PMID:21820356|PMID:21933806|PMID:22618301|PMID:23341816|PMID:23430799|PMID:23590577|PMID:23643385|PMID:23685548|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27261974|PMID:28492532|PMID:30487145|PMID:31885962|PMID:32849836|PMID:33300680|PMID:9536098|PMID:9924029 12024444 TYMP thymidine phosphorylase gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:1313979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency PMID:10852545|PMID:12529715|PMID:14720311|PMID:14757860|PMID:15781193|PMID:16178026|PMID:16198108|PMID:16199547|PMID:16995425|PMID:17576681|PMID:19056268|PMID:19344718|PMID:19853446|PMID:2005900|PMID:20151198|PMID:20232099|PMID:20301358|PMID:23341816|PMID:23430799|PMID:23643385|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098|PMID:9924029 12024444 TYMP thymidine phosphorylase gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1313979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12024444 TYMP thymidine phosphorylase gene DOID:0080357 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 ISO RGD:1313979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 PMID:12529715|PMID:23643385|PMID:25741868|PMID:26467025|PMID:28492532 12024444 TYMP thymidine phosphorylase gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1313979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 12024444 TYMP thymidine phosphorylase gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1313979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 12024444 TYMP thymidine phosphorylase gene DOID:10581 metachromatic leukodystrophy ISO RGD:1313979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 12024444 TYMP thymidine phosphorylase gene DOID:1059 intellectual disability ISO RGD:1313979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12024444 TYMP thymidine phosphorylase gene DOID:11054 urinary bladder cancer ISO RGD:1313979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11103787|PMID:15841086 12024444 TYMP thymidine phosphorylase gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1313979 D RGD:9068941 20200609 RGD PMID:16937303|REF_RGD_ID:2293716 12024444 TYMP thymidine phosphorylase gene DOID:12377 spinal muscular atrophy ISO RGD:1313979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy PMID:2005900|PMID:25741868|PMID:26467025|PMID:28492532 12024444 TYMP thymidine phosphorylase gene DOID:1380 endometrial cancer ISO RGD:1313979 D RGD:9068941 20200609 RGD PMID:18348659|REF_RGD_ID:2293715 12024444 TYMP thymidine phosphorylase gene DOID:1793 pancreatic cancer ISO RGD:1313979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17443278 12024444 TYMP thymidine phosphorylase gene DOID:1793 pancreatic cancer ISO RGD:1313979 D RGD:9068941 20200609 RGD PMID:19671868|REF_RGD_ID:2325156 12024444 TYMP thymidine phosphorylase gene DOID:2394 ovarian cancer disease_progression ISO RGD:1313979 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:15628771|REF_RGD_ID:2293721 12024444 TYMP thymidine phosphorylase gene DOID:2394 ovarian cancer disease_progression ISO RGD:1313979 D RGD:9068941 20200609 RGD protein:increased expression:ovary, serum PMID:15262124|REF_RGD_ID:2293722 12024444 TYMP thymidine phosphorylase gene DOID:2671 transitional cell carcinoma ISO RGD:1313979 D RGD:9068941 20200609 RGD PMID:15841086|REF_RGD_ID:2293720 12024444 TYMP thymidine phosphorylase gene DOID:305 carcinoma ISO RGD:1313979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11103787|PMID:12565868 12024444 TYMP thymidine phosphorylase gene DOID:3307 teratoma ISO RGD:1313979 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:10886088|REF_RGD_ID:2293724 12024444 TYMP thymidine phosphorylase gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1313979 D RGD:9068941 20200609 RGD PMID:19760965|REF_RGD_ID:2325155 12024444 TYMP thymidine phosphorylase gene DOID:3744 cervical squamous cell carcinoma disease_progression ISO RGD:1313979 D RGD:9068941 20200609 RGD PMID:16803522|REF_RGD_ID:2293719 12024444 TYMP thymidine phosphorylase gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1313979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11641616 12024444 TYMP thymidine phosphorylase gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1313979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency PMID:12529715|PMID:23643385|PMID:25741868|PMID:26467025|PMID:28492532 12024444 TYMP thymidine phosphorylase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1313979 D RGD:9068941 20200609 RGD PMID:19671868|REF_RGD_ID:2325156 12024444 TYMP thymidine phosphorylase gene DOID:4440 seminoma ISO RGD:1313979 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:10886088|REF_RGD_ID:2293724 12024444 TYMP thymidine phosphorylase gene DOID:4450 renal cell carcinoma ISO RGD:1313979 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:16861722|REF_RGD_ID:2293717 12024444 TYMP thymidine phosphorylase gene DOID:4450 renal cell carcinoma severity ISO RGD:1313979 D RGD:9068941 20200609 RGD PMID:12614261|REF_RGD_ID:2293723 12024444 TYMP thymidine phosphorylase gene DOID:4608 common bile duct neoplasm disease_progression ISO RGD:1313979 D RGD:9068941 20200609 RGD PMID:10760693|REF_RGD_ID:2325158 12024444 TYMP thymidine phosphorylase gene DOID:4948 gallbladder carcinoma disease_progression ISO RGD:1313979 D RGD:9068941 20200609 RGD PMID:18946757|REF_RGD_ID:2325157 12024444 TYMP thymidine phosphorylase gene DOID:630 genetic disease ISO RGD:1313979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15781193|PMID:16199547|PMID:17576681|PMID:19056268|PMID:22618301|PMID:28492532|PMID:9536098|PMID:9924029 12024444 TYMP thymidine phosphorylase gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1313979 D RGD:9068941 20200609 RGD mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome,OMIM:603041;DNA:point mutation:exon:E289A PMID:9924029|REF_RGD_ID:1601000 12024444 TYMP thymidine phosphorylase gene DOID:9000081 Lymphatic Metastasis ISO RGD:1313979 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:10685502|REF_RGD_ID:2293725 12024444 TYMP thymidine phosphorylase gene DOID:9000081 Lymphatic Metastasis ISO RGD:1313979 D RGD:9068941 20200609 RGD associated with Cholangiocarcinoma PMID:11927969|REF_RGD_ID:2325027 12024444 TYMP thymidine phosphorylase gene DOID:9000217 Stomach Neoplasms ISO RGD:1313979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18652704 12024444 TYMP thymidine phosphorylase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11103787 12024444 TYMP thymidine phosphorylase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313979 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:18441329|REF_RGD_ID:2293714 12024444 TYMP thymidine phosphorylase gene DOID:9001044 Choroidal Neovascularization ISO RGD:1305756 D RGD:9068941 20200609 RGD PMID:12556409|REF_RGD_ID:2293727 12024444 TYMP thymidine phosphorylase gene DOID:9001263 Mitochondrial DNA Depletion Syndrome, MNGIE Type ISO RGD:1313979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MNGIE syndrome | ClinVar Annotator: match by term: Myoneurogastrointestinal encephalopathy syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:10852545|PMID:12529715|PMID:14720311|PMID:14757860|PMID:15781193|PMID:16178026|PMID:16198108|PMID:16199547|PMID:16995425|PMID:17576681|PMID:19056268|PMID:19344718|PMID:19853446|PMID:2005900|PMID:20151198|PMID:20232099|PMID:20301358|PMID:23341816|PMID:23430799|PMID:23643385|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098|PMID:9924029 12024444 TYMP thymidine phosphorylase gene DOID:9002928 Colonic Neoplasms ISO RGD:1313979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18652704 12024444 TYMP thymidine phosphorylase gene DOID:9004853 Myopia 6 ISO RGD:1313979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopia 6 PMID:25741868|PMID:28492532 12024444 TYMP thymidine phosphorylase gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:1313979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:12529715|PMID:23643385|PMID:25741868|PMID:26467025|PMID:28492532 12024444 TYMP thymidine phosphorylase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15706408|PMID:17047489 12024444 TYMP thymidine phosphorylase gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1313979 D RGD:9068941 20200609 RGD PMID:16854285|REF_RGD_ID:2293718 12024454 TRAF3 TNF receptor associated factor 3 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1312182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children PMID:28492532 12024454 TRAF3 TNF receptor associated factor 3 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1312182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12024454 TRAF3 TNF receptor associated factor 3 gene DOID:3070 high grade glioma ISO RGD:1312182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12024454 TRAF3 TNF receptor associated factor 3 gene DOID:630 genetic disease ISO RGD:1312182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12024454 TRAF3 TNF receptor associated factor 3 gene DOID:9001392 Herpes Simplex Encephalitis 3 ISO RGD:1312182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 PMID:17576681|PMID:25741868|PMID:28492532|PMID:31681265|PMID:9536098 12024454 TRAF3 TNF receptor associated factor 3 gene DOID:9001392 Herpes Simplex Encephalitis 3 susceptibility ISO RGD:1312182 D RGD:7240710 20190502 OMIM 12024454 TRAF3 TNF receptor associated factor 3 gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1312182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 12024454 TRAF3 TNF receptor associated factor 3 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:1312182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12024454 TRAF3 TNF receptor associated factor 3 gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:1312182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:0050073 invasive aspergillosis ISO RGD:733265 D RGD:9068941 20200609 RGD PMID:24054721|REF_RGD_ID:10450528 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:0050855 renal fibrosis ISO RGD:1350492 D RGD:9068941 20200609 RGD associated with liver transplant;protein:increased expression:kidney: PMID:22568654|REF_RGD_ID:11040697 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:0050855 renal fibrosis treatment ISO RGD:620574 D RGD:9068941 20200609 RGD PMID:22568654|REF_RGD_ID:11040697 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:1350492 D RGD:7240710 20180130 OMIM 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:1350492 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked | ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked, variant PMID:10068684|PMID:10089913|PMID:10627478|PMID:10828042|PMID:10914676|PMID:10980575|PMID:11112388|PMID:11162142|PMID:11413138|PMID:11435314|PMID:11462241|PMID:11566256|PMID:11700292|PMID:11997083|PMID:12094329|PMID:12139950|PMID:12589359|PMID:1347621|PMID:1438069|PMID:14697745|PMID:15082894|PMID:1520880|PMID:15338276|PMID:15454837|PMID:16199547|PMID:1710153|PMID:1719419|PMID:17576211|PMID:17576681|PMID:18322777|PMID:18509647|PMID:18546332|PMID:18708296|PMID:18762975|PMID:18773283|PMID:19410294|PMID:19483051|PMID:20228266|PMID:20540864|PMID:20724480|PMID:20729109|PMID:21190454|PMID:21604087|PMID:21659519|PMID:22125116|PMID:22540226|PMID:22562447|PMID:22876374|PMID:22924696|PMID:22924737|PMID:22929960|PMID:23193493|PMID:23859418|PMID:23910690|PMID:23956436|PMID:24276928|PMID:24943880|PMID:24999735|PMID:2523713|PMID:25252997|PMID:25525159|PMID:2556453|PMID:25666294|PMID:25741868|PMID:26185101|PMID:26453586|PMID:26936803|PMID:27701760|PMID:27853979|PMID:27980538|PMID:28168067|PMID:28251166|PMID:2838754|PMID:28492532|PMID:29018441|PMID:29560547|PMID:29702544|PMID:30237823|PMID:30470980|PMID:30506560|PMID:30633606|PMID:30716179|PMID:31456102|PMID:31813112|PMID:32040803|PMID:33629196|PMID:33717137|PMID:33963972|PMID:34680870|PMID:3600768|PMID:7907031|PMID:8070813|PMID:8101486|PMID:8182143|PMID:8634410|PMID:8655140|PMID:8900212|PMID:8916969|PMID:8961628|PMID:9454688|PMID:9536098|PMID:9585602|PMID:9667376|PMID:9774399|PMID:9794433|PMID:9856476 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:0070195 X-linked chronic granulomatous disease treatment ISO RGD:1350492 D RGD:9068941 20200609 RGD PMID:12804147|REF_RGD_ID:11040567 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1350492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:0112000 immunodeficiency 34 ISO RGD:1350492 D RGD:7240710 20180130 OMIM 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:0112000 immunodeficiency 34 ISO RGD:1350492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency PMID:10089913|PMID:10914676|PMID:11435314|PMID:12139950|PMID:17293536|PMID:17576681|PMID:18546332|PMID:19483051|PMID:21278736|PMID:23193493|PMID:24276928|PMID:25741868|PMID:28492532|PMID:29560547|PMID:30470980|PMID:8634410|PMID:8655140|PMID:8900212|PMID:8916969|PMID:9536098|PMID:9585602 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:10763 hypertension ISO RGD:1350492 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:16685210|PMID:21593737|PMID:27659729|PMID:27847271|PMID:32147540|PMID:32165127 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:10763 hypertension ISO RGD:620574 D RGD:9068941 20200609 RGD Protein:increased expression:brain PMID:12472782|REF_RGD_ID:1599685 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:10825 essential hypertension ISO RGD:1350492 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:12849 autistic disorder ISO RGD:1350492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:3265 chronic granulomatous disease ISO RGD:1350492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic granulomatous disease PMID:1347621|PMID:17293536|PMID:18546332|PMID:20729109|PMID:21190454|PMID:21278736|PMID:22924737|PMID:23859418|PMID:24276928|PMID:25741868|PMID:28492532|PMID:29560547|PMID:8634410|PMID:9585602 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:3454 brain infarction ISO RGD:1350492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19417757 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:446 primary hyperaldosteronism ISO RGD:620574 D RGD:9068941 20200609 RGD Protein:increased expression:heart ventricle PMID:16373592|REF_RGD_ID:1599681 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:557 kidney disease ISO RGD:1350492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20116427 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:576 proteinuria ISO RGD:1350492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20116427 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:5844 myocardial infarction ISO RGD:620574 D RGD:9068941 20200609 RGD mRNA:increase expression:ventricle myocardium PMID:11243862|REF_RGD_ID:1599690 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:6000 congestive heart failure ISO RGD:1350492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20304815 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:630 genetic disease ISO RGD:1350492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1320378|PMID:20724480|PMID:20729109 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:6432 pulmonary hypertension ISO RGD:733265 D RGD:9068941 20200609 RGD associated with Anoxia PMID:18952568|REF_RGD_ID:4762683 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:6432 pulmonary hypertension treatment ISO RGD:620574 D RGD:9068941 20200609 RGD PMID:18424632|REF_RGD_ID:4773907 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:7148 rheumatoid arthritis ISO RGD:1350492 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:24313545 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:783 end stage renal disease ISO RGD:1350492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:783 end stage renal disease ISO RGD:620574 D RGD:9068941 20200609 RGD PMID:15550752|REF_RGD_ID:1599682 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:8354 complement component 3 deficiency ISO RGD:1350492 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Complement component 3 deficiency PMID:25741868 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:9000039 Spinal Cord Injuries ISO RGD:733265 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:microglia: PMID:20679217|REF_RGD_ID:11040629 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:620574 D RGD:9068941 20200609 RGD Protein:increased expression:cerebral cortex PMID:16671452|REF_RGD_ID:1599680 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:620574 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral vessel: PMID:12142572|REF_RGD_ID:11040582 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:9002211 Hyperalgesia ISO RGD:733265 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries; PMID:20679217|REF_RGD_ID:11040629 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:9002514 Neointima treatment ISO RGD:620574 D RGD:9068941 20200609 RGD PMID:20485380|REF_RGD_ID:11040762 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:9004009 Reperfusion Injury ISO RGD:1350492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19193722 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:9004009 Reperfusion Injury ISO RGD:620574 D RGD:9068941 20200609 RGD Protein:increase expression:brain PMID:16766636|REF_RGD_ID:1599677 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:9005372 Inflammation ISO RGD:733265 D RGD:9068941 20200609 RGD PMID:19234224|REF_RGD_ID:11040576 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1350492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19478208 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620574 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:11157681|REF_RGD_ID:1599691 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620574 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex;associated with reperfusion injury PMID:15148062|REF_RGD_ID:1599683 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1350492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19207477 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:1350492 D RGD:9068941 20210115 RGD mRNA,protein:increased expression:mucosa of stomach (human) PMID:27048452|REF_RGD_ID:40924640 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:9074 systemic lupus erythematosus ISO RGD:733265 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1350492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:10946359|PMID:11793468|PMID:16786505|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:9351 diabetes mellitus ISO RGD:1350492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23723366 12024487 LOC100982531 cytochrome b-245 heavy chain gene DOID:9562 primary ciliary dyskinesia ISO RGD:1350492 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12024508 RPL21 ribosomal protein L21 gene DOID:0110709 hypotrichosis 12 ISO RGD:68568 D RGD:7240710 20180130 OMIM 12024508 RPL21 ribosomal protein L21 gene DOID:0110709 hypotrichosis 12 ISO RGD:68568 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypotrichosis 12 PMID:19751230|PMID:21412954|PMID:25741868 12024508 RPL21 ribosomal protein L21 gene DOID:4535 hypotrichosis ISO RGD:68568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12024508 RPL21 ribosomal protein L21 gene DOID:630 genetic disease ISO RGD:68568 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12024519 HAL histidine ammonia-lyase gene DOID:0060168 histidinemia ISO RGD:68517 D RGD:7240710 20180130 OMIM 12024519 HAL histidine ammonia-lyase gene DOID:0060168 histidinemia ISO RGD:68517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Histidinemia | ClinVar Annotator: match by term: Increased histidine PMID:15173056|PMID:15806399|PMID:23361591|PMID:23806086|PMID:24088041|PMID:24725463|PMID:25575548|PMID:25741868|PMID:27453504|PMID:28492532 12024519 HAL histidine ammonia-lyase gene DOID:630 genetic disease ISO RGD:68517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12024519 HAL histidine ammonia-lyase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:68517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12024554 GARS1 glycyl-tRNA synthetase 1 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1317292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:25741868|PMID:28492532 12024554 GARS1 glycyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1317292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:10732809|PMID:12690580|PMID:16014653|PMID:17035524|PMID:17101916|PMID:17544401|PMID:17576681|PMID:17595294|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24088041|PMID:24354524|PMID:24604904|PMID:24669931|PMID:25058219|PMID:25168514|PMID:25356970|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26244500|PMID:26392352|PMID:26467025|PMID:26503042|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27790088|PMID:27862672|PMID:28160950|PMID:28166811|PMID:28492532|PMID:28594869|PMID:28708278|PMID:29520015|PMID:29648643|PMID:30643024|PMID:31591847|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32181591|PMID:8872480|PMID:9536098 12024554 GARS1 glycyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1317292 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16769947|PMID:17035524|PMID:17101916|PMID:17544401|PMID:17576681|PMID:17595294|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24088041|PMID:24354524|PMID:24604904|PMID:24627108|PMID:24669931|PMID:25168514|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26392352|PMID:26467025|PMID:26503042|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27790088|PMID:27862672|PMID:28160950|PMID:28166811|PMID:28492532|PMID:28594869|PMID:29520015|PMID:29858556|PMID:30643024|PMID:31591847|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32028661|PMID:32181591|PMID:32376792|PMID:32403337|PMID:8872480|PMID:9536098 12024554 GARS1 glycyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1317292 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16769947|PMID:17035524|PMID:17101916|PMID:17545306|PMID:17576681|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24354524|PMID:24604904|PMID:24627108|PMID:25058219|PMID:25168514|PMID:25356970|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26244500|PMID:26392352|PMID:26467025|PMID:26503042|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27790088|PMID:27862672|PMID:28160950|PMID:28492532|PMID:28594869|PMID:28708278|PMID:29520015|PMID:29648643|PMID:29858556|PMID:30643024|PMID:31591847|PMID:31628756|PMID:31785789|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32181591|PMID:32376792|PMID:32403337|PMID:33067402|PMID:8872480|PMID:9536098 12024554 GARS1 glycyl-tRNA synthetase 1 gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1317292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 12024554 GARS1 glycyl-tRNA synthetase 1 gene DOID:0110164 Charcot-Marie-Tooth disease type 2D ISO RGD:1317292 D RGD:7240710 20180130 OMIM 12024554 GARS1 glycyl-tRNA synthetase 1 gene DOID:0110164 Charcot-Marie-Tooth disease type 2D ISO RGD:1317292 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2D PMID:10732809|PMID:12690580|PMID:16534118|PMID:16769947|PMID:17035524|PMID:17101916|PMID:17545306|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:21737751|PMID:24604904|PMID:25168514|PMID:25326637|PMID:25476837|PMID:25741868|PMID:26138142|PMID:26244500|PMID:26467025|PMID:26503042|PMID:26633545|PMID:27008886|PMID:27582484|PMID:27790088|PMID:28160950|PMID:28492532|PMID:28594869|PMID:29648643|PMID:31173493|PMID:32181591|PMID:32376792|PMID:32403337|PMID:8872480|PMID:9879677 12024554 GARS1 glycyl-tRNA synthetase 1 gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:1317292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy PMID:17101916|PMID:20301420|PMID:22462675|PMID:25168514 12024554 GARS1 glycyl-tRNA synthetase 1 gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:1317292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:25635128 12024554 GARS1 glycyl-tRNA synthetase 1 gene DOID:0111203 distal hereditary motor neuronopathy type 5 ISO RGD:1317292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 5 PMID:25741868|PMID:28492532 12024554 GARS1 glycyl-tRNA synthetase 1 gene DOID:0111204 distal hereditary motor neuronopathy type 5A ISO RGD:1317292 D RGD:7240710 20180130 OMIM 12024554 GARS1 glycyl-tRNA synthetase 1 gene DOID:0111204 distal hereditary motor neuronopathy type 5A ISO RGD:1317292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HMN 5A | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A PMID:12690580|PMID:16014653|PMID:16534118|PMID:16769947|PMID:17035524|PMID:17101916|PMID:17545306|PMID:17595294|PMID:19329989|PMID:20301420|PMID:24604904|PMID:24627108|PMID:25168514|PMID:25476837|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26503042|PMID:27008886|PMID:27582484|PMID:27790088|PMID:28160950|PMID:28492532|PMID:28594869|PMID:29648643|PMID:29858556|PMID:31628756|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32376792|PMID:8541851|PMID:9879677 12024554 GARS1 glycyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1317292 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16534118|PMID:17035524|PMID:17101916|PMID:17544401|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24088041|PMID:24354524|PMID:24604904|PMID:24627108|PMID:24669931|PMID:25168514|PMID:25420567|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26467025|PMID:26503042|PMID:26517670|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27862672|PMID:28492532|PMID:28594869|PMID:29520015|PMID:29858556|PMID:30643024|PMID:31591847|PMID:31827005|PMID:31832804|PMID:31985473|PMID:8541851|PMID:8872480|PMID:9879677 12024554 GARS1 glycyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1317292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16534118|PMID:17035524|PMID:17101916|PMID:17544401|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24088041|PMID:24354524|PMID:24604904|PMID:24627108|PMID:24669931|PMID:25168514|PMID:25420567|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26244500|PMID:26467025|PMID:26503042|PMID:26517670|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27862672|PMID:28492532|PMID:28594869|PMID:29520015|PMID:29858556|PMID:30643024|PMID:31591847|PMID:31827005|PMID:31832804|PMID:31985473|PMID:8541851|PMID:8872480|PMID:9879677 12024554 GARS1 glycyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1317292 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16534118|PMID:17035524|PMID:17101916|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24354524|PMID:24604904|PMID:24627108|PMID:25168514|PMID:25420567|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26244500|PMID:26467025|PMID:26503042|PMID:26517670|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27862672|PMID:28492532|PMID:28594869|PMID:29520015|PMID:29858556|PMID:30643024|PMID:31591847|PMID:31827005|PMID:31832804|PMID:31985473|PMID:8541851|PMID:8872480|PMID:9879677 12024554 GARS1 glycyl-tRNA synthetase 1 gene DOID:12377 spinal muscular atrophy ISO RGD:1317292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:12690580|PMID:16014653|PMID:16534118|PMID:16769947|PMID:17101916|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:24604904|PMID:25168514|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26392352|PMID:26467025|PMID:27582484|PMID:27790088|PMID:28160950|PMID:28166811|PMID:28492532|PMID:28594869|PMID:29520015|PMID:29648643|PMID:31827005|PMID:31832804|PMID:31985473 12024554 GARS1 glycyl-tRNA synthetase 1 gene DOID:12377 spinal muscular atrophy ISO RGD:1317292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:12690580|PMID:16014653|PMID:16534118|PMID:16769947|PMID:17035524|PMID:17101916|PMID:17545306|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:24604904|PMID:24627108|PMID:25168514|PMID:25476837|PMID:25741868|PMID:26467025|PMID:27008886|PMID:27582484|PMID:27790088|PMID:28160950|PMID:28492532|PMID:28594869|PMID:29648643|PMID:29858556|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32376792 12024554 GARS1 glycyl-tRNA synthetase 1 gene DOID:231 motor neuron disease ISO RGD:1317292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Motor neuron disease 12024554 GARS1 glycyl-tRNA synthetase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12024554 GARS1 glycyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1317292 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16014653|PMID:16199547|PMID:17035524|PMID:17101916|PMID:19329989|PMID:20301420|PMID:24078732|PMID:24627108|PMID:25168514|PMID:25614874|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26752306|PMID:27582484|PMID:27790088|PMID:28160950|PMID:28492532|PMID:28594869|PMID:28675565|PMID:29858556|PMID:31785789|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32376792|PMID:32403337 12024554 GARS1 glycyl-tRNA synthetase 1 gene DOID:7319 axonal neuropathy ISO RGD:1317292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral axonal neuropathy 12024554 GARS1 glycyl-tRNA synthetase 1 gene DOID:9004357 Spinal Muscular Atrophy, Infantile, James Type ISO RGD:1317292 D RGD:7240710 20201021 OMIM 12024554 GARS1 glycyl-tRNA synthetase 1 gene DOID:9004357 Spinal Muscular Atrophy, Infantile, James Type ISO RGD:1317292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, infantile, James type PMID:17101916|PMID:20301420|PMID:22462675|PMID:24604904|PMID:25168514|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31985473|PMID:32181591 12024554 GARS1 glycyl-tRNA synthetase 1 gene DOID:9008305 Talipes Cavus ISO RGD:1317292 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pes cavus 12024578 INTS6L integrator complex subunit 6 like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12024578 INTS6L integrator complex subunit 6 like gene DOID:12849 autistic disorder ISO RGD:1343446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12024578 INTS6L integrator complex subunit 6 like gene DOID:13501 Moebius syndrome ISO RGD:1343446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 12024578 INTS6L integrator complex subunit 6 like gene DOID:630 genetic disease ISO RGD:1343446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12024615 MT1HL1 metallothionein 1H like 1 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1604411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:28492532 12024615 MT1HL1 metallothionein 1H like 1 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1604411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 12024615 MT1HL1 metallothionein 1H like 1 gene DOID:0110428 dilated cardiomyopathy 1AA ISO RGD:1604411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:28492532 12024615 MT1HL1 metallothionein 1H like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1604411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12024615 MT1HL1 metallothionein 1H like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12024631 CHRNA10 cholinergic receptor nicotinic alpha 10 subunit gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12024631 CHRNA10 cholinergic receptor nicotinic alpha 10 subunit gene DOID:0080773 delta beta-thalassemia ISO RGD:735581 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12024631 CHRNA10 cholinergic receptor nicotinic alpha 10 subunit gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12024631 CHRNA10 cholinergic receptor nicotinic alpha 10 subunit gene DOID:630 genetic disease ISO RGD:735581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12024639 TYR tyrosinase gene DOID:0050632 oculocutaneous albinism ISO RGD:1346000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:10094567|PMID:10766867|PMID:10823941|PMID:10987646|PMID:11284711|PMID:11295837|PMID:11829136|PMID:12753405|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:15635296|PMID:15937636|PMID:16056219|PMID:16098056|PMID:16170149|PMID:1642278|PMID:17952075|PMID:17999355|PMID:1820207|PMID:18326704|PMID:1832718|PMID:18463683|PMID:18488027|PMID:18488028|PMID:18821858|PMID:18925668|PMID:1899321|PMID:1903591|PMID:1905879|PMID:19060277|PMID:19208379|PMID:19320745|PMID:1943686|PMID:19533789|PMID:19626598|PMID:1970634|PMID:19865097|PMID:20301345|PMID:20806075|PMID:20861488|PMID:21541274|PMID:21906913|PMID:22042571|PMID:22294196|PMID:22734612|PMID:23085273|PMID:23324268|PMID:2342539|PMID:23504663|PMID:24033266|PMID:24123366|PMID:24721949|PMID:25216246|PMID:25333069|PMID:25741868|PMID:25919014|PMID:26165494|PMID:26167114|PMID:26818737|PMID:27537549|PMID:27734839|PMID:27775880|PMID:27829221|PMID:27887888|PMID:27959697|PMID:28041643|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28667292|PMID:28976636|PMID:29345414|PMID:30311386|PMID:30472657|PMID:31077556|PMID:31199599|PMID:31719542|PMID:32411182|PMID:32581362|PMID:33223529|PMID:33800529|PMID:34008892|PMID:35803923|PMID:5516239|PMID:666627|PMID:7704033|PMID:7849740|PMID:7902671|PMID:7955413|PMID:8026428|PMID:8128955|PMID:8217557|PMID:8430701|PMID:8434585|PMID:9158138|PMID:9163730|PMID:9242509|PMID:9259202 12024639 TYR tyrosinase gene DOID:0050632 oculocutaneous albinism treatment ISO RGD:11466 D RGD:9068941 20200609 RGD PMID:15250938|REF_RGD_ID:8694345 12024639 TYR tyrosinase gene DOID:0050633 ocular albinism ISO RGD:1346000 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Ocular albinism PMID:13680365|PMID:15381243|PMID:18326704|PMID:18463683|PMID:19060277|PMID:19626598|PMID:19865097|PMID:20861488|PMID:22294196|PMID:24033266|PMID:24721949|PMID:25741868|PMID:25919014|PMID:28266639|PMID:28451379|PMID:28492532|PMID:28629449|PMID:29345414|PMID:33223529|PMID:34008892|PMID:9163730 12024639 TYR tyrosinase gene DOID:0070094 oculocutaneous albinism type IA ISO RGD:1346000 D RGD:7240710 20180130 OMIM 12024639 TYR tyrosinase gene DOID:0070094 oculocutaneous albinism type IA ISO RGD:1346000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism type 1 | ClinVar Annotator: match by term: Tyrosinase-negative oculocutaneous albinism PMID:10766867|PMID:10823941|PMID:10987646|PMID:11284711|PMID:11295837|PMID:11829136|PMID:12753405|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:15635296|PMID:15937636|PMID:16056219|PMID:16098056|PMID:16170149|PMID:16199547|PMID:16417222|PMID:1642278|PMID:16517127|PMID:16570240|PMID:1676041|PMID:16907708|PMID:1711223|PMID:17952075|PMID:17999355|PMID:1820207|PMID:18326704|PMID:1832718|PMID:18463683|PMID:18488027|PMID:18488028|PMID:18701257|PMID:18821858|PMID:18925668|PMID:1899321|PMID:1903591|PMID:1905879|PMID:19060277|PMID:19208379|PMID:19320745|PMID:1943686|PMID:19533789|PMID:19626598|PMID:1970634|PMID:19865097|PMID:20301345|PMID:20806075|PMID:20861488|PMID:20861851|PMID:2113511|PMID:21458243|PMID:21541274|PMID:21906913|PMID:21985232|PMID:22042571|PMID:22294196|PMID:22734612|PMID:22981120|PMID:23085273|PMID:23242301|PMID:23324268|PMID:2342539|PMID:23504663|PMID:23882993|PMID:24033266|PMID:24123366|PMID:24461674|PMID:24721949|PMID:2511845|PMID:25216246|PMID:25326635|PMID:25333069|PMID:25455140|PMID:25703744|PMID:25741868|PMID:25919014|PMID:26165494|PMID:26167114|PMID:26818737|PMID:27537549|PMID:27734839|PMID:27775880|PMID:27829221|PMID:27887888|PMID:27959697|PMID:28041643|PMID:28112372|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28667292|PMID:28976636|PMID:2903492|PMID:29345414|PMID:30311386|PMID:30472657|PMID:30996339|PMID:31077556|PMID:31199599|PMID:31229681|PMID:31719542|PMID:32115698|PMID:32411182|PMID:32581362|PMID:33223529|PMID:33800529|PMID:34008892|PMID:35803923|PMID:5516239|PMID:666627|PMID:7704033|PMID:7849740|PMID:7902671|PMID:7955413|PMID:8026428|PMID:8128955|PMID:8217557|PMID:8430701|PMID:8434585|PMID:8477259|PMID:9158138|PMID:9163730|PMID:9242509|PMID:9259202 12024639 TYR tyrosinase gene DOID:0070094 oculocutaneous albinism type IA treatment ISO RGD:1346000 D RGD:9068941 20200609 RGD PMID:19436266|REF_RGD_ID:8694335 12024639 TYR tyrosinase gene DOID:0070095 oculocutaneous albinism type IB ISO RGD:1346000 D RGD:7240710 20180130 OMIM 12024639 TYR tyrosinase gene DOID:0070095 oculocutaneous albinism type IB ISO RGD:1346000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism type 1B | ClinVar Annotator: match by term: Yellow albinism PMID:10766867|PMID:10823941|PMID:10987646|PMID:11284711|PMID:11295837|PMID:12753405|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:15937636|PMID:16098056|PMID:16199547|PMID:16417222|PMID:1642278|PMID:1676041|PMID:17952075|PMID:1820207|PMID:18326704|PMID:1832718|PMID:18463683|PMID:18488027|PMID:18488028|PMID:18821858|PMID:18925668|PMID:1899321|PMID:1903591|PMID:1905879|PMID:19060277|PMID:19208379|PMID:19320745|PMID:1943686|PMID:19533789|PMID:19626598|PMID:1970634|PMID:19865097|PMID:20301345|PMID:20861488|PMID:2113511|PMID:21541274|PMID:21906913|PMID:21985232|PMID:22042571|PMID:22294196|PMID:22734612|PMID:23085273|PMID:23242301|PMID:2342539|PMID:23504663|PMID:23882993|PMID:24033266|PMID:24123366|PMID:24721949|PMID:25216246|PMID:25333069|PMID:25703744|PMID:25741868|PMID:25919014|PMID:26167114|PMID:26818737|PMID:27734839|PMID:27775880|PMID:27887888|PMID:28041643|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28667292|PMID:28976636|PMID:29345414|PMID:30311386|PMID:30472657|PMID:31077556|PMID:31719542|PMID:32411182|PMID:32581362|PMID:33223529|PMID:33800529|PMID:34008892|PMID:35803923|PMID:5516239|PMID:666627|PMID:7704033|PMID:7849740|PMID:7955413|PMID:8026428|PMID:8128955|PMID:8430701|PMID:8434585|PMID:9158138|PMID:9163730|PMID:9242509|PMID:9259202 12024639 TYR tyrosinase gene DOID:0090100 ocular albinism with sensorineural deafness ISO RGD:1346000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness PMID:11284711|PMID:13680365|PMID:1429711|PMID:15146472|PMID:1642278|PMID:18463683|PMID:18821858|PMID:1903591|PMID:19060277|PMID:19208379|PMID:19320745|PMID:19865097|PMID:20861488|PMID:21906913|PMID:22734612|PMID:24033266|PMID:24123366|PMID:25216246|PMID:25333069|PMID:25741868|PMID:26167114|PMID:26818737|PMID:27734839|PMID:27775880|PMID:27887888|PMID:28266639|PMID:28378818|PMID:28492532|PMID:28667292|PMID:28976636|PMID:30311386|PMID:31077556|PMID:31719542|PMID:32411182|PMID:5516239|PMID:7704033|PMID:7955413|PMID:9242509 12024639 TYR tyrosinase gene DOID:1059 intellectual disability ISO RGD:1346000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12024639 TYR tyrosinase gene DOID:11211 buphthalmos ISO RGD:11466 D RGD:9068941 20220825 MouseDO OMIM:231300 12024639 TYR tyrosinase gene DOID:11830 myopia ISO RGD:1346000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopia PMID:13680365|PMID:15381243|PMID:18326704|PMID:18463683|PMID:19060277|PMID:19626598|PMID:19865097|PMID:20861488|PMID:22294196|PMID:24033266|PMID:24721949|PMID:25741868|PMID:25919014|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28976636|PMID:29345414|PMID:31077556|PMID:33223529|PMID:34008892|PMID:7704033|PMID:7955413|PMID:9163730 12024639 TYR tyrosinase gene DOID:12306 vitiligo ISO RGD:1346000 D RGD:9068941 20200609 RGD PMID:22834951|REF_RGD_ID:8694387 12024639 TYR tyrosinase gene DOID:12306 vitiligo severity ISO RGD:1346000 D RGD:9068941 20200609 RGD PMID:8697641|REF_RGD_ID:8694409 12024639 TYR tyrosinase gene DOID:1612 breast cancer ISO RGD:1346000 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm PMID:10766867|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:18488027|PMID:18488028|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28492532|PMID:666627|PMID:7704033|PMID:9158138 12024639 TYR tyrosinase gene DOID:1612 breast cancer ISO RGD:1346000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm PMID:10766867|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:18488027|PMID:18488028|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28492532|PMID:30472657|PMID:35803923|PMID:666627|PMID:7704033|PMID:9158138 12024639 TYR tyrosinase gene DOID:1909 melanoma ISO RGD:1346000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18488027|PMID:19578364|PMID:21559390|PMID:26640592 12024639 TYR tyrosinase gene DOID:1909 melanoma ISO RGD:1346000 D RGD:9068941 20200609 RGD PMID:22834951|REF_RGD_ID:8694387 12024639 TYR tyrosinase gene DOID:1909 melanoma disease_progression ISO RGD:1346000 D RGD:9068941 20200609 RGD PMID:8609659|REF_RGD_ID:8694384 12024639 TYR tyrosinase gene DOID:2513 basal cell carcinoma ISO RGD:1346000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18488027 12024639 TYR tyrosinase gene DOID:2615 papilloma treatment ISO RGD:11466 D RGD:9068941 20200609 RGD PMID:15007389|REF_RGD_ID:8694346 12024639 TYR tyrosinase gene DOID:630 genetic disease ISO RGD:1346000 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10987646|PMID:11284711|PMID:12753405|PMID:13680365|PMID:1429711|PMID:15146472|PMID:16417222|PMID:1642278|PMID:1676041|PMID:18326704|PMID:1832718|PMID:18463683|PMID:18821858|PMID:18925668|PMID:1899321|PMID:1903591|PMID:19060277|PMID:19208379|PMID:19320745|PMID:1943686|PMID:19626598|PMID:1970634|PMID:19865097|PMID:20861488|PMID:21906913|PMID:21985232|PMID:22294196|PMID:22734612|PMID:23242301|PMID:2342539|PMID:23504663|PMID:23882993|PMID:24033266|PMID:24123366|PMID:2511845|PMID:25216246|PMID:25326635|PMID:25333069|PMID:25741868|PMID:26167114|PMID:26818737|PMID:27734839|PMID:27775880|PMID:27829221|PMID:27887888|PMID:28041643|PMID:28266639|PMID:28451379|PMID:28492532|PMID:28667292|PMID:28976636|PMID:29345414|PMID:30311386|PMID:31719542|PMID:32411182|PMID:5516239|PMID:7849740|PMID:8128955|PMID:8434585|PMID:9242509 12024639 TYR tyrosinase gene DOID:6846 familial melanoma ISO RGD:1346000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 PMID:10766867|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:18488027|PMID:18488028|PMID:18925668|PMID:19208379|PMID:19533789|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28492532|PMID:666627|PMID:7704033|PMID:9158138 12024639 TYR tyrosinase gene DOID:6846 familial melanoma ISO RGD:1346000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO PMID:10766867|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:18488027|PMID:18488028|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28492532|PMID:30472657|PMID:35803923|PMID:666627|PMID:7704033|PMID:9158138 12024639 TYR tyrosinase gene DOID:8465 retinoschisis treatment ISO RGD:1346000 D RGD:9068941 20200609 RGD PMID:20876567|REF_RGD_ID:8694343 12024639 TYR tyrosinase gene DOID:8923 skin melanoma susceptibility ISO RGD:1346000 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R402Q(human) PMID:21906913|REF_RGD_ID:8694390 12024639 TYR tyrosinase gene DOID:9000307 Presbycusis onset ISO RGD:11466 D RGD:9068941 20200609 RGD PMID:19141317|REF_RGD_ID:8694327 12024639 TYR tyrosinase gene DOID:9000307 Presbycusis treatment ISO RGD:11466 D RGD:9068941 20200609 RGD associated with Albinism; PMID:19843244|REF_RGD_ID:8694324 12024639 TYR tyrosinase gene DOID:9000570 Skin/Hair/Eye Pigmentation, Variation In, 3 ISO RGD:1346000 D RGD:7240710 20221207 OMIM 12024639 TYR tyrosinase gene DOID:9000570 Skin/Hair/Eye Pigmentation, Variation In, 3 ISO RGD:1346000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 3, FRECKLING | ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 3 PMID:10766867|PMID:10823941|PMID:11284711|PMID:11295837|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:1642278|PMID:17952075|PMID:17999355|PMID:1820207|PMID:18326704|PMID:18463683|PMID:18488027|PMID:18488028|PMID:18821858|PMID:18925668|PMID:1899321|PMID:1903591|PMID:1905879|PMID:19060277|PMID:19208379|PMID:19320745|PMID:1943686|PMID:19533789|PMID:19626598|PMID:19865097|PMID:20301345|PMID:20861488|PMID:21541274|PMID:21906913|PMID:22294196|PMID:22734612|PMID:23085273|PMID:2342539|PMID:23504663|PMID:24033266|PMID:24123366|PMID:24721949|PMID:25216246|PMID:25333069|PMID:25741868|PMID:25919014|PMID:26167114|PMID:26818737|PMID:27734839|PMID:27775880|PMID:27887888|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28667292|PMID:28976636|PMID:29345414|PMID:30311386|PMID:30472657|PMID:31077556|PMID:31719542|PMID:32411182|PMID:33223529|PMID:34008892|PMID:35803923|PMID:5516239|PMID:666627|PMID:7704033|PMID:7955413|PMID:8128955|PMID:8430701|PMID:8434585|PMID:9158138|PMID:9163730|PMID:9242509|PMID:9259202 12024639 TYR tyrosinase gene DOID:9000965 Neoplasm Metastasis no_association ISO RGD:1346000 D RGD:9068941 20200609 RGD associated with melanoma; PMID:11092039|REF_RGD_ID:8694395 12024639 TYR tyrosinase gene DOID:9001044 Choroidal Neovascularization ISO RGD:1346000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Choroidal neovascularization PMID:10766867|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:18488027|PMID:18488028|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28378818|PMID:28492532|PMID:28976636|PMID:30472657|PMID:31077556|PMID:35803923|PMID:666627|PMID:7704033|PMID:7955413|PMID:9158138 12024639 TYR tyrosinase gene DOID:9001386 Albinism ISO RGD:1346000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Albinism PMID:10766867|PMID:10987646|PMID:12753405|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:16517127|PMID:17952075|PMID:1820207|PMID:18326704|PMID:1832718|PMID:18463683|PMID:18488027|PMID:18488028|PMID:18821858|PMID:18925668|PMID:1899321|PMID:1903591|PMID:19060277|PMID:19208379|PMID:19533789|PMID:19626598|PMID:1970634|PMID:19865097|PMID:20301345|PMID:20861488|PMID:21541274|PMID:22294196|PMID:23504663|PMID:24033266|PMID:24721949|PMID:25216246|PMID:25741868|PMID:25919014|PMID:27734839|PMID:28041643|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28976636|PMID:2903492|PMID:29345414|PMID:30472657|PMID:31077556|PMID:33223529|PMID:34008892|PMID:35803923|PMID:666627|PMID:7704033|PMID:7849740|PMID:7955413|PMID:8434585|PMID:9158138|PMID:9163730 12024639 TYR tyrosinase gene DOID:9001386 Albinism treatment ISO RGD:11466 D RGD:9068941 20200609 RGD PMID:2112453|REF_RGD_ID:8694355 12024639 TYR tyrosinase gene DOID:9001923 Foveal Hypoplasia ISO RGD:1346000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Foveal hypoplasia PMID:10766867|PMID:11295837|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:18488027|PMID:18488028|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:27734839|PMID:28378818|PMID:28492532|PMID:28976636|PMID:29345414|PMID:30472657|PMID:31077556|PMID:35803923|PMID:666627|PMID:7704033|PMID:7955413|PMID:9158138 12024639 TYR tyrosinase gene DOID:9001957 Keratosis Palmoplantaris with Periodontopathia and Onychogryposis ISO RGD:1346000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Haim-Munk syndrome PMID:28492532 12024639 TYR tyrosinase gene DOID:9003119 Nonsyndromic Oculocutaneous Albinism ISO RGD:1346000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism PMID:10987646|PMID:11284711|PMID:11829136|PMID:13680365|PMID:1429711|PMID:15381243|PMID:15635296|PMID:15937636|PMID:16056219|PMID:16098056|PMID:1642278|PMID:16907708|PMID:18326704|PMID:18463683|PMID:1899321|PMID:1903591|PMID:19060277|PMID:1943686|PMID:19626598|PMID:19865097|PMID:20806075|PMID:20861488|PMID:20861851|PMID:21906913|PMID:21985232|PMID:22042571|PMID:22294196|PMID:22734612|PMID:23324268|PMID:2342539|PMID:23504663|PMID:24033266|PMID:24123366|PMID:24721949|PMID:25216246|PMID:25326635|PMID:25333069|PMID:25741868|PMID:25919014|PMID:26165494|PMID:27734839|PMID:27775880|PMID:27829221|PMID:28112372|PMID:28266639|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28667292|PMID:29345414|PMID:31077556|PMID:31199599|PMID:32115698|PMID:32581362|PMID:33223529|PMID:33800529|PMID:34008892|PMID:7902671|PMID:8026428|PMID:8128955|PMID:9163730|PMID:9242509 12024639 TYR tyrosinase gene DOID:9004464 Skin Neoplasms ISO RGD:1346000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18488027 12024639 TYR tyrosinase gene DOID:9004538 Hearing Loss ISO RGD:1346000 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:11284711|PMID:13680365|PMID:1429711|PMID:15146472|PMID:1642278|PMID:18463683|PMID:18821858|PMID:1903591|PMID:19060277|PMID:19208379|PMID:19320745|PMID:19865097|PMID:20861488|PMID:21906913|PMID:22734612|PMID:24033266|PMID:24123366|PMID:25216246|PMID:25333069|PMID:25741868|PMID:26167114|PMID:26818737|PMID:27734839|PMID:27775880|PMID:27887888|PMID:28266639|PMID:28492532|PMID:28667292|PMID:30311386|PMID:31719542|PMID:32411182|PMID:5516239|PMID:9242509 12024639 TYR tyrosinase gene DOID:9005389 Oculocutaneous Albinism Type I, Temperature-Sensitive ISO RGD:1346000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE PMID:10766867|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:1832718|PMID:18488027|PMID:18488028|PMID:18925668|PMID:1900307|PMID:1900309|PMID:19208379|PMID:1943686|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:2567165|PMID:25741868|PMID:28492532|PMID:30472657|PMID:31077556|PMID:35803923|PMID:666627|PMID:7704033|PMID:9158138 12024639 TYR tyrosinase gene DOID:9008296 Eye Abnormalities ISO RGD:1346000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:16098056|PMID:25216246|PMID:28041643|PMID:28266639|PMID:28492532|PMID:31077556|PMID:33800529|PMID:8026428 12024639 TYR tyrosinase gene DOID:9650 pathologic nystagmus ISO RGD:1346000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Horizontal nystagmus | ClinVar Annotator: match by term: Nystagmus PMID:13680365|PMID:15381243|PMID:18326704|PMID:18463683|PMID:19060277|PMID:19626598|PMID:19865097|PMID:20861488|PMID:22294196|PMID:24033266|PMID:24721949|PMID:25741868|PMID:25919014|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28976636|PMID:29345414|PMID:31077556|PMID:33223529|PMID:34008892|PMID:7704033|PMID:7955413|PMID:9163730 12024648 BCAP29 B cell receptor associated protein 29 gene DOID:13938 amenorrhea ISO RGD:1347055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12024648 BCAP29 B cell receptor associated protein 29 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12024648 BCAP29 B cell receptor associated protein 29 gene DOID:630 genetic disease ISO RGD:1347055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28434932 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:0050852 limb ischemia ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:17522350|REF_RGD_ID:1626332 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:0060074 ductal carcinoma in situ ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20526721 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:0060074 ductal carcinoma in situ ISO RGD:730935 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:16080559|REF_RGD_ID:2306227 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:0060221 Maffucci syndrome ISO RGD:730935 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maffucci syndrome PMID:25741868 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:0060224 atrial fibrillation ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:right atrium appendage, cytoplasm (human) PMID:19211267|REF_RGD_ID:8695924 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:0080322 polycystic kidney disease ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:17322369|REF_RGD_ID:10395372 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:10283 prostate cancer ISO RGD:730935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:10591 pre-eclampsia ISO RGD:730935 D RGD:9068941 20221103 RGD protein:increased expression:chorionic villus (human) PMID:22840297|REF_RGD_ID:155631283 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:10652 Alzheimer's disease ISO RGD:62221 D RGD:9068941 20200609 RGD protein:increased expression:brain, microvessel (mouse) PMID:21904637|REF_RGD_ID:9068888 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:10652 Alzheimer's disease ISO RGD:730935 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex, microvessel (human) PMID:16627934|REF_RGD_ID:9068875 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:1074 kidney failure ISO RGD:61928 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:kidney PMID:15583217|REF_RGD_ID:1626324 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:10763 hypertension ISO RGD:61928 D RGD:9068941 20200609 RGD associated with Hypercholesterolemia;protein:increased expression:aorta PMID:11882589|REF_RGD_ID:1626330 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:10763 hypertension ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:16955051|REF_RGD_ID:1626317 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:10763 hypertension ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22349312 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:10763 hypertension ISO RGD:730935 D RGD:9068941 20200609 RGD Hypertension, Pregnancy-Induced;mRNA, protein:increased expression:placenta PMID:15862159|REF_RGD_ID:1626322 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:10964 cholesteatoma of middle ear ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:auditory canal, epidermis (human) PMID:12838021|REF_RGD_ID:8694474 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:11054 urinary bladder cancer ISO RGD:730935 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36115647 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:11650 bronchopulmonary dysplasia ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:26431790|REF_RGD_ID:11537057 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:11650 bronchopulmonary dysplasia treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:23065129|REF_RGD_ID:10395385 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:11721 glycogen storage disease VII ISO RGD:62221 D RGD:9068941 20220825 MouseDO OMIM:232800 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:11981 morbid obesity ISO RGD:730935 D RGD:9068941 20200609 RGD mRNA:increased expression:subcutaneous adipose tissue PMID:16046292|REF_RGD_ID:1626320 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:12236 primary biliary cholangitis ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22271822 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:12337 varicocele ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:epididymus (rat) PMID:25095617|REF_RGD_ID:9068459 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:12510 retinal ischemia treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:23537149|REF_RGD_ID:10755711 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:13413 hepatic encephalopathy ISO RGD:61928 D RGD:9068941 20200609 RGD associated with Hypertension, Portal PMID:24382264|REF_RGD_ID:10395388 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:13948 bladder neck obstruction ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder (rat) PMID:12118092|REF_RGD_ID:9068887 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:14268 sclerosing cholangitis ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22271822 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:1682 congenital heart disease ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26073000 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:1793 pancreatic cancer ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16628086 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:2154 nephroblastoma severity ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17937859|REF_RGD_ID:2291911 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:224 transient cerebral ischemia ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, caudoputamen (rat) PMID:20417628|REF_RGD_ID:9068877 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:224 transient cerebral ischemia treatment ISO RGD:61928 D RGD:9068941 20221117 RGD PMID:30258350|REF_RGD_ID:155663419 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:2316 brain ischemia ISO RGD:61928 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex (rat) PMID:17101276|REF_RGD_ID:9068892 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:2316 brain ischemia ISO RGD:62221 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17554006|REF_RGD_ID:1626331 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:2316 brain ischemia ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19429140 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:2316 brain ischemia treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:18369388|REF_RGD_ID:9068895 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:2394 ovarian cancer disease_progression ISO RGD:730935 D RGD:9068941 20200609 RGD PMID:19014607|REF_RGD_ID:2306225 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:2746 glycogen storage disease V ISO RGD:62221 D RGD:9068941 20220825 MouseDO OMIM:232600 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:2841 asthma treatment ISO RGD:62221 D RGD:9068941 20200609 RGD PMID:18160846|REF_RGD_ID:10402541 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:3008 invasive ductal carcinoma ISO RGD:730935 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:16080559|REF_RGD_ID:2306227 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:3021 acute kidney failure ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:15673301|REF_RGD_ID:10395376 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:3021 acute kidney failure ISO RGD:61928 D RGD:9068941 20200609 RGD mRNA:increased expression:renal cortex (rat) PMID:18593636|REF_RGD_ID:9068894 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:3021 acute kidney failure treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:16762988|REF_RGD_ID:10395386 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:305 carcinoma ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19808899 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:3068 glioblastoma ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12811834 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:3069 malignant astrocytoma ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:3454 brain infarction exacerbates ISO RGD:61928 D RGD:9068941 20221117 RGD PMID:30052311|REF_RGD_ID:155663378 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:21029239|REF_RGD_ID:9068917 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:3526 cerebral infarction severity ISO RGD:730935 D RGD:9068941 20220930 RGD protein:increased expression:blood serum (human) PMID:34708885|REF_RGD_ID:155260326 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:369 olfactory neuroblastoma severity ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:neuroblastoma (human) PMID:18431543|REF_RGD_ID:8694471 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17201171 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:3908 lung non-small cell carcinoma ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30381462 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:730935 D RGD:9068941 20200609 RGD PMID:21812995|REF_RGD_ID:10395382 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:4449 macular retinal edema ISO RGD:730935 D RGD:9068941 20221014 RGD associated with central retinal vein occlusion;mRNA:increased expression:aqueous humor of eyeball (human) PMID:35799735|REF_RGD_ID:155582223 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:730935 D RGD:9068941 20200609 RGD PMID:19302703|REF_RGD_ID:2306222 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:4624 Ollier disease ISO RGD:730935 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Enchondromatosis PMID:25741868|PMID:28492532 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:5082 liver cirrhosis ISO RGD:730935 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:36126797 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:5241 hemangioblastoma ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:5688 Werner syndrome treatment ISO RGD:62221 D RGD:9068941 20200609 RGD PMID:19741171|REF_RGD_ID:10402544 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:576 proteinuria ISO RGD:61928 D RGD:9068941 20230128 RGD mRNA, protein:increased expression:brain,kidney (rat) PMID:31784544|REF_RGD_ID:155882534 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:5844 myocardial infarction ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:15247145|REF_RGD_ID:1580977 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:5844 myocardial infarction ISO RGD:61928 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:18484163|REF_RGD_ID:5147886 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:5844 myocardial infarction ameliorates ISO RGD:61928 D RGD:9068941 20230427 RGD PMID:28622474|REF_RGD_ID:329333030 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:5844 myocardial infarction treatment ISO RGD:730935 D RGD:9068941 20200609 RGD human gene in a rat model PMID:15999059|REF_RGD_ID:9068466 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:6000 congestive heart failure ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:heart right ventricle (rat) PMID:17582388|REF_RGD_ID:9068910 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:6000 congestive heart failure ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15732037 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:630 genetic disease ISO RGD:730935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:6432 pulmonary hypertension ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:16215633|REF_RGD_ID:10395375 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:6432 pulmonary hypertension ISO RGD:61928 D RGD:9068941 20200609 RGD associated with Anoxia;protein:increased expression:pulmonary artery PMID:17213961|REF_RGD_ID:1601553 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:6432 pulmonary hypertension ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20110409 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:26078356|REF_RGD_ID:11526468 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:730935 D RGD:9068941 20230202 RGD PMID:31321740|REF_RGD_ID:155882550 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:684 hepatocellular carcinoma treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:19335982|REF_RGD_ID:9068886 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:7148 rheumatoid arthritis ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:layer of synovial tissue, stromal cell PMID:12823854|REF_RGD_ID:10395366 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:8398 osteoarthritis ISO RGD:62221 D RGD:9068941 20200609 RGD PMID:18789153|REF_RGD_ID:10402406 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:8398 osteoarthritis ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:layer of synovial tissue, stromal cell PMID:12823854|REF_RGD_ID:10395366 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:850 lung disease ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20152896 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:8691 mycosis fungoides ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:epidermis, dermis (human) PMID:24127318|REF_RGD_ID:8695934 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:8717 decubitus ulcer ISO RGD:61928 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:deep dorsal muscles (rat) PMID:20223667|REF_RGD_ID:8694460 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:8893 psoriasis ISO RGD:730935 D RGD:9068941 20200609 RGD PMID:17495954|REF_RGD_ID:10395383 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:8893 psoriasis ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23517877|REF_RGD_ID:8695945 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:8923 skin melanoma ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:epidermis (human) PMID:19558170|REF_RGD_ID:8695922 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:8947 diabetic retinopathy ISO RGD:61928 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:retina (rat) PMID:22110070|REF_RGD_ID:7364887 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:8947 diabetic retinopathy severity ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:retina, vascular endothelial cell (human) PMID:17229797|REF_RGD_ID:8694462 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:8947 diabetic retinopathy treatment ISO RGD:61928 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:20515763|REF_RGD_ID:8696025 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9000039 Spinal Cord Injuries ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:21092735|REF_RGD_ID:5148013 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9000039 Spinal Cord Injuries ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21092735 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9000111 Radiation Injuries treatment ISO RGD:730935 D RGD:9068941 20200609 RGD PMID:17340073|REF_RGD_ID:8695920 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:15703702|REF_RGD_ID:1626323 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9000585 Intervertebral Disc Disease ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion, neuron, cytoplasm (rat) PMID:21243740|REF_RGD_ID:9068928 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9000855 Experimental Radiation Injuries ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:white matter of spinal cord (rat) PMID:15161688|REF_RGD_ID:9068912 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9000855 Experimental Radiation Injuries ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23065176 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9000918 Disease Progression ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30381462 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9001041 Asphyxia ISO RGD:61928 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium, lung (rat) PMID:17285858|REF_RGD_ID:9068458 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:61928 D RGD:9068941 20221201 RGD PMID:21063852|REF_RGD_ID:12859045 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:61928 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:17085342|REF_RGD_ID:9068897 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9001390 Testis Reperfusion Injury ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:testes (rat) PMID:12193413|REF_RGD_ID:632997 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9001968 Hot Flashes susceptibility ISO RGD:730935 D RGD:9068941 20200609 RGD DNA:snp:exon:c.1744C>T (human) PMID:18785001|REF_RGD_ID:8695942 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9002141 Anaplasia ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19808899 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:61928 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17914354|REF_RGD_ID:10395377 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:61928 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:17967803|REF_RGD_ID:10395374 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9002170 Experimental Neoplasms ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28574600 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9002211 Hyperalgesia ISO RGD:61928 D RGD:9068941 20200609 RGD associated with Limb Ischemia;protein:increased expression:foot muscle, plantar PMID:18691814|REF_RGD_ID:9068903 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9002221 Hyperplasia ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20526721 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16205110 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9002457 Experimental Arthritis treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:21679445|REF_RGD_ID:8693318 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9002661 Diabetes Complications ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26073000 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:62221 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (mouse) PMID:20220049|REF_RGD_ID:9068455 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:62221 D RGD:9068941 20200609 RGD PMID:18087198|REF_RGD_ID:8695923 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9002910 Hearing Loss, Noise-Induced treatment ISO RGD:62221 D RGD:9068941 20200609 RGD PMID:21787680|REF_RGD_ID:8695948 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9002928 Colonic Neoplasms severity ISO RGD:730935 D RGD:9068941 20200609 RGD PMID:21812995|REF_RGD_ID:10395382 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9003049 Femur Head Necrosis ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:26261616|REF_RGD_ID:11087286 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9003646 Arterial Thrombosis ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:plantar, foot muscle (rat) PMID:22351094|REF_RGD_ID:8695963 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:brain (rat) PMID:18210138|REF_RGD_ID:9068873 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:61928 D RGD:9068941 20230128 RGD mRNA, protein:increased expression:brain,kidney (rat) PMID:31784544|REF_RGD_ID:155882534 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23694759 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:19595151|REF_RGD_ID:9068901 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9003936 Cardiomegaly ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15942707 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9004009 Reperfusion Injury treatment ISO RGD:61928 D RGD:9068941 20200609 RGD Limb Reperfusion Injury PMID:23816242|REF_RGD_ID:9068927 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9004009 Reperfusion Injury treatment ISO RGD:61928 D RGD:9068941 20200609 RGD Spinal Cord Reperfusion Injury PMID:16465055|REF_RGD_ID:9068924 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9004240 Phyllodes Tumor severity ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:breast (human) PMID:16168127|REF_RGD_ID:8694472 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9004464 Skin Neoplasms ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276359 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9004547 Thyroid Neoplasms ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19808899 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9004575 Neoplasm Invasiveness ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12811834|PMID:29501572 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:renal/urinary system PMID:18304212|REF_RGD_ID:2306226 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9004713 Acute-Phase Reaction ISO RGD:61928 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:19840250|REF_RGD_ID:10395370 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:62221 D RGD:9068941 20200609 RGD PMID:18067744|REF_RGD_ID:10402540 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9004914 Postmenopausal Osteoporosis treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:24023068|REF_RGD_ID:10402191 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9005175 Ulcer ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:esophagus (rat) PMID:12368217|REF_RGD_ID:632996 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:17280655|REF_RGD_ID:2293194 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9005600 Infarction ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:12911537|REF_RGD_ID:10395384 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve (rat) PMID:15663958|REF_RGD_ID:8694461 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9006223 Kidney Reperfusion Injury severity ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:22432008|REF_RGD_ID:9068883 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:17519789|REF_RGD_ID:1626334 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9006281 Temporomandibular Joint Disorders ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:temporomandibular joint, cartilage PMID:20171183|REF_RGD_ID:10402539 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:23603807|REF_RGD_ID:10395381 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23065176 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9007102 Myocardial Ischemia ISO RGD:61928 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium (rat) PMID:17335664|REF_RGD_ID:9068465 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29501572 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9007730 Burns ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:Peyer's patches (rat) PMID:19439119|REF_RGD_ID:9068477 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9007748 Retinal Neovascularization treatment ISO RGD:62221 D RGD:9068941 20200609 RGD PMID:21414312|REF_RGD_ID:8695956 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:61928 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:12189448|REF_RGD_ID:1626327 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:myocardium PMID:19727523|REF_RGD_ID:5147885 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18549825|PMID:22050707 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:20170615|REF_RGD_ID:9068872 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:24072673|REF_RGD_ID:10402542 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9008023 Memory Disorders treatment ISO RGD:62221 D RGD:9068941 20200609 RGD PMID:22547371|REF_RGD_ID:10402407 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9008138 Ductal Carcinoma ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20526721 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9008212 Diabetic Foot ISO RGD:730935 D RGD:9068941 20220930 RGD mRNA,protein:decreased expression:blood serum, foot (human) PMID:34293021|REF_RGD_ID:155260332 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9008939 Breast Neoplasms ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24349381 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9008939 Breast Neoplasms ISO RGD:730935 D RGD:9068941 20200609 RGD PMID:19064988|REF_RGD_ID:2306224 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:730935 D RGD:9068941 20200609 RGD PMID:17245699|REF_RGD_ID:2293195 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9256 colorectal cancer ameliorates ISO RGD:730935 D RGD:9068941 20220421 RGD human cells in mouse model PMID:30789971|REF_RGD_ID:151893289 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:17914354|REF_RGD_ID:10395377 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:heart blood vessel PMID:12234789|REF_RGD_ID:625730 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:730935 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:increased expression:serum (human) PMID:23244125|REF_RGD_ID:8695972 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:730935 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P582S (human) PMID:16046581|REF_RGD_ID:8695936 12024672 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9970 obesity ISO RGD:730935 D RGD:9068941 20230202 RGD associated with hepatocellular carcinoma;RNA:decreased expression:liver: PMID:31321740|REF_RGD_ID:155882550 12024695 GLRA2 glycine receptor alpha 2 gene DOID:12849 autistic disorder ISO RGD:731909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12024695 GLRA2 glycine receptor alpha 2 gene DOID:630 genetic disease ISO RGD:731909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12024695 GLRA2 glycine receptor alpha 2 gene DOID:9001972 Syndromic X-Linked Intellectual Disability Pilorge type ISO RGD:731909 D RGD:7240710 20220427 OMIM 12024695 GLRA2 glycine receptor alpha 2 gene DOID:9001972 Syndromic X-Linked Intellectual Disability Pilorge type ISO RGD:731909 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type PMID:20479760|PMID:25741868|PMID:26370147|PMID:28588452|PMID:35294868 12024695 GLRA2 glycine receptor alpha 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12024724 NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1319779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25741868|PMID:28492532 12024724 NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1319779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:20818383|PMID:24595071|PMID:25741868|PMID:28492532 12024724 NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:0112083 nuclear type mitochondrial complex I deficiency 2 ISO RGD:1319779 D RGD:7240710 20190315 OMIM 12024724 NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:0112083 nuclear type mitochondrial complex I deficiency 2 ISO RGD:1319779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 PMID:15159508|PMID:22499348|PMID:25741868|PMID:28492532|PMID:9837812 12024724 NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:1059 intellectual disability ISO RGD:1319779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12024724 NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:13533 osteopetrosis ISO RGD:1319779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteopetrosis 12024724 NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:3652 Leigh disease ISO RGD:1319779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:20818383|PMID:24595071|PMID:25326637|PMID:25741868|PMID:28492532|PMID:9837812 12024724 NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:630 genetic disease ISO RGD:1319779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20818383|PMID:25741868|PMID:28492532 12024724 NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:8398 osteoarthritis ISO RGD:1319779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12024724 NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1319779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:28492532|PMID:9837812 12024724 NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1319779 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12024724 NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1319779 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12024745 PARVA parvin alpha gene DOID:1059 intellectual disability ISO RGD:1352322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12024745 PARVA parvin alpha gene DOID:303 substance-related disorder ISO RGD:1352322 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12024745 PARVA parvin alpha gene DOID:630 genetic disease ISO RGD:1352322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12024762 MYO1D myosin ID gene DOID:12849 autistic disorder ISO RGD:1349117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17376794 12024762 MYO1D myosin ID gene DOID:630 genetic disease ISO RGD:1349117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12024787 CDKN2D cyclin dependent kinase inhibitor 2D gene DOID:630 genetic disease ISO RGD:1346352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12024787 CDKN2D cyclin dependent kinase inhibitor 2D gene DOID:9000217 Stomach Neoplasms ISO RGD:1346352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12024805 SAMD10 sterile alpha motif domain containing 10 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12024805 SAMD10 sterile alpha motif domain containing 10 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1351691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12024805 SAMD10 sterile alpha motif domain containing 10 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12024805 SAMD10 sterile alpha motif domain containing 10 gene DOID:630 genetic disease ISO RGD:1351691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12024831 ZNF696 zinc finger protein 696 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1605338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12024831 ZNF696 zinc finger protein 696 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1605338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12024831 ZNF696 zinc finger protein 696 gene DOID:4621 holoprosencephaly ISO RGD:1605338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12024831 ZNF696 zinc finger protein 696 gene DOID:630 genetic disease ISO RGD:1605338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12024852 PTGDR prostaglandin D2 receptor gene DOID:0080600 COVID-19 ISO RGD:1349248 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12024852 PTGDR prostaglandin D2 receptor gene DOID:2841 asthma ISO RGD:1349248 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12024852 PTGDR prostaglandin D2 receptor gene DOID:2841 asthma susceptibility ISO RGD:1349248 D RGD:7240710 20190502 OMIM 12024852 PTGDR prostaglandin D2 receptor gene DOID:630 genetic disease ISO RGD:1349248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12024861 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 gene DOID:0050475 Weill-Marchesani syndrome ISO RGD:1618964 D RGD:9068941 20220825 MouseDO OMIM:277600 | OMIM:608328 | OMIM:613195 | OMIM:614819 12024861 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1318756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 12024861 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 gene DOID:0060648 anterior segment dysgenesis ISO RGD:1318756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:19836009|PMID:24940034|PMID:28492532|PMID:32499604 12024861 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 gene DOID:1070 primary open angle glaucoma ISO RGD:12401864 D RGD:9068941 20230511 OMIA Glaucoma, primary open angle, ADAMTS17-related PMID:26277300|PMID:26456751|PMID:26474315|PMID:26683476|PMID:26945802|PMID:27192202|PMID:27681326|PMID:28176809|PMID:29287154|PMID:31131111 12024861 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 gene DOID:630 genetic disease ISO RGD:1318756 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12024861 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 gene DOID:9007188 Liver Neoplasms ISO RGD:1318756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12024861 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 gene DOID:9008508 Weill-Marchesani Syndrome 4 ISO RGD:1318756 D RGD:7240710 20180130 OMIM 12024861 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 gene DOID:9008508 Weill-Marchesani Syndrome 4 ISO RGD:1318756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 4 | ClinVar Annotator: match by term: Weill-Marchesani-like syndrome PMID:17576681|PMID:19836009|PMID:22486325|PMID:24940034|PMID:25741868|PMID:28492532|PMID:31848748|PMID:32616716|PMID:9536098 12024893 NFYC nuclear transcription factor Y subunit gamma gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:731843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12024893 NFYC nuclear transcription factor Y subunit gamma gene DOID:630 genetic disease ISO RGD:731843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12024930 MPPED2 metallophosphoesterase domain containing 2 gene DOID:10024 migraine with aura ISO RGD:1347972 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:35115687 12024930 MPPED2 metallophosphoesterase domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1347972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12024930 MPPED2 metallophosphoesterase domain containing 2 gene DOID:630 genetic disease ISO RGD:1347972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12024953 MFSD1 major facilitator superfamily domain containing 1 gene DOID:630 genetic disease ISO RGD:1346472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12024991 MRPL44 mitochondrial ribosomal protein L44 gene DOID:0111469 combined oxidative phosphorylation deficiency 16 ISO RGD:1319960 D RGD:7240710 20180130 OMIM 12024991 MRPL44 mitochondrial ribosomal protein L44 gene DOID:0111469 combined oxidative phosphorylation deficiency 16 ISO RGD:1319960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency PMID:23315540|PMID:25326637|PMID:25741868|PMID:25797485|PMID:26001801|PMID:26968897|PMID:28492532|PMID:33726816|PMID:34140213 12024991 MRPL44 mitochondrial ribosomal protein L44 gene DOID:0111474 combined oxidative phosphorylation deficiency 1 ISO RGD:1319960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 PMID:25741868 12024991 MRPL44 mitochondrial ribosomal protein L44 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1319960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:28492532 12024991 MRPL44 mitochondrial ribosomal protein L44 gene DOID:630 genetic disease ISO RGD:1319960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 12024991 MRPL44 mitochondrial ribosomal protein L44 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12025000 KLKB1 kallikrein B1 gene DOID:0050589 inflammatory bowel disease ISO RGD:67382 D RGD:9068941 20200609 RGD PMID:8625762|REF_RGD_ID:7327139 12025000 KLKB1 kallikrein B1 gene DOID:0050664 Bietti crystalline corneoretinal dystrophy ISO RGD:736915 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy PMID:17962476 12025000 KLKB1 kallikrein B1 gene DOID:0060041 autism spectrum disorder ISO RGD:736915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25255310 12025000 KLKB1 kallikrein B1 gene DOID:0060903 thrombosis ISO RGD:736915 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25339356 12025000 KLKB1 kallikrein B1 gene DOID:0080162 lupus nephritis susceptibility ISO RGD:736915 D RGD:9068941 20200609 RGD DNA:SNPs:promoter: PMID:19307730|REF_RGD_ID:7327150 12025000 KLKB1 kallikrein B1 gene DOID:10763 hypertension ISO RGD:736915 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1; protein:increased expression:plasma: PMID:12716755|REF_RGD_ID:7327151 12025000 KLKB1 kallikrein B1 gene DOID:12849 autistic disorder ISO RGD:736915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12025000 KLKB1 kallikrein B1 gene DOID:2213 hemorrhagic disease ISO RGD:736915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 12025000 KLKB1 kallikrein B1 gene DOID:2229 factor XI deficiency ISO RGD:736915 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:32581362|PMID:34355501 12025000 KLKB1 kallikrein B1 gene DOID:2566 corneal dystrophy ISO RGD:736915 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Corneal Dystrophy, Recessive | ClinVar Annotator: match by term: Corneal dystrophy 12025000 KLKB1 kallikrein B1 gene DOID:2921 glomerulonephritis ISO RGD:736915 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:2173275|REF_RGD_ID:7327152 12025000 KLKB1 kallikrein B1 gene DOID:3410 carotid artery thrombosis ISO RGD:736915 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25339356 12025000 KLKB1 kallikrein B1 gene DOID:5082 liver cirrhosis ISO RGD:67382 D RGD:9068941 20200609 RGD PMID:14986822|REF_RGD_ID:7297050 12025000 KLKB1 kallikrein B1 gene DOID:630 genetic disease ISO RGD:736915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025000 KLKB1 kallikrein B1 gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:736915 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1; protein:increased expression:plasma: PMID:12716755|REF_RGD_ID:7327151 12025000 KLKB1 kallikrein B1 gene DOID:9002457 Experimental Arthritis ISO RGD:67382 D RGD:9068941 20200609 RGD PMID:22739815|PMID:9783057|REF_RGD_ID:7297047|REF_RGD_ID:7327138 12025000 KLKB1 kallikrein B1 gene DOID:9002805 Enterocolitis ISO RGD:67382 D RGD:9068941 20200609 RGD PMID:9783057|REF_RGD_ID:7327138 12025000 KLKB1 kallikrein B1 gene DOID:9003851 Prekallikrein Deficiency ISO RGD:736915 D RGD:7240710 20180130 OMIM 12025000 KLKB1 kallikrein B1 gene DOID:9003851 Prekallikrein Deficiency ISO RGD:736915 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inherited prekallikrein deficiency | ClinVar Annotator: match by term: Prekallikrein deficiency PMID:12871337|PMID:14652634|PMID:15461630|PMID:17598838|PMID:19404525|PMID:25741868|PMID:28492532|PMID:32202057|PMID:33073460|PMID:33116287|PMID:34847617 12025000 KLKB1 kallikrein B1 gene DOID:9004484 Sepsis ISO RGD:67382 D RGD:9068941 20200609 RGD PMID:22352684|REF_RGD_ID:7297048 12025000 KLKB1 kallikrein B1 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:736915 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 12025000 KLKB1 kallikrein B1 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:736915 D RGD:9068941 20200609 RGD DNA:SNPs:promoter: PMID:19307730|REF_RGD_ID:7327150 12025000 KLKB1 kallikrein B1 gene DOID:9477 pulmonary embolism ISO RGD:736915 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25339356 12025019 LENG8 leukocyte receptor cluster member 8 gene DOID:630 genetic disease ISO RGD:1314652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025039 ZFP69B ZFP69 zinc finger protein B gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1350662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12025039 ZFP69B ZFP69 zinc finger protein B gene DOID:630 genetic disease ISO RGD:1350662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025055 TPT1 tumor protein, translationally-controlled 1 gene DOID:630 genetic disease ISO RGD:735250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025055 TPT1 tumor protein, translationally-controlled 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:735250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 12025055 TPT1 tumor protein, translationally-controlled 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12025066 TSNARE1 t-SNARE domain containing 1 gene DOID:630 genetic disease ISO RGD:1606429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025087 FAM107A family with sequence similarity 107 member A gene DOID:3070 high grade glioma ISO RGD:1605094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16865689 12025087 FAM107A family with sequence similarity 107 member A gene DOID:630 genetic disease ISO RGD:1605094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025133 ZNF470-DT ZNF470 divergent transcript gene DOID:630 genetic disease ISO RGD:38658703 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025142 SCX scleraxis bHLH transcription factor gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1625822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12025142 SCX scleraxis bHLH transcription factor gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1625822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12025142 SCX scleraxis bHLH transcription factor gene DOID:4621 holoprosencephaly ISO RGD:1625822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12025142 SCX scleraxis bHLH transcription factor gene DOID:630 genetic disease ISO RGD:1625822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025161 FGL2 fibrinogen like 2 gene DOID:0040094 autoimmune glomerulonephritis ISO RGD:732675 D RGD:9068941 20220825 MouseDO 12025161 FGL2 fibrinogen like 2 gene DOID:0080600 COVID-19 ISO RGD:1347654 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12025161 FGL2 fibrinogen like 2 gene DOID:3042 allergic contact dermatitis ISO RGD:1347654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 12025161 FGL2 fibrinogen like 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12025161 FGL2 fibrinogen like 2 gene DOID:630 genetic disease ISO RGD:1347654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025161 FGL2 fibrinogen like 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12025161 FGL2 fibrinogen like 2 gene DOID:9002311 Experimental Autoimmune Myocarditis severity ISO RGD:620170 D RGD:9068941 20200903 RGD PMID:28892130|REF_RGD_ID:38549573 12025161 FGL2 fibrinogen like 2 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1347654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 12025167 COL6A5 collagen type VI alpha 5 chain gene DOID:0111947 immunodeficiency 21 ISO RGD:1601707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 12025167 COL6A5 collagen type VI alpha 5 chain gene DOID:630 genetic disease ISO RGD:1601707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025167 COL6A5 collagen type VI alpha 5 chain gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1601707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868|PMID:28492532 12025167 COL6A5 collagen type VI alpha 5 chain gene DOID:9270 alkaptonuria ISO RGD:1601707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12025212 LOC100969458 histatin-3 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1347774 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12025223 CHD1L chromodomain helicase DNA binding protein 1 like gene DOID:0060041 autism spectrum disorder ISO RGD:1323647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 12025223 CHD1L chromodomain helicase DNA binding protein 1 like gene DOID:0060411 chromosome 1q21.1 deletion syndrome ISO RGD:1323647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome 12025223 CHD1L chromodomain helicase DNA binding protein 1 like gene DOID:0060435 chromosome 1q21.1 duplication syndrome ISO RGD:1323647 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome 12025223 CHD1L chromodomain helicase DNA binding protein 1 like gene DOID:0080205 CAKUT ISO RGD:1323647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:27657687 12025223 CHD1L chromodomain helicase DNA binding protein 1 like gene DOID:0110231 cataract 1 multiple types ISO RGD:1323647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 1 multiple types PMID:17601931|PMID:23720739|PMID:23772370|PMID:28492532 12025223 CHD1L chromodomain helicase DNA binding protein 1 like gene DOID:1227 neutropenia ISO RGD:1323647 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 12025223 CHD1L chromodomain helicase DNA binding protein 1 like gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1323647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 12025223 CHD1L chromodomain helicase DNA binding protein 1 like gene DOID:1540 parathyroid carcinoma ISO RGD:1323647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12025223 CHD1L chromodomain helicase DNA binding protein 1 like gene DOID:18 urinary system disease ISO RGD:1323647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the urinary system 12025223 CHD1L chromodomain helicase DNA binding protein 1 like gene DOID:303 substance-related disorder ISO RGD:1323647 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12025223 CHD1L chromodomain helicase DNA binding protein 1 like gene DOID:5419 schizophrenia ISO RGD:1323647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12025223 CHD1L chromodomain helicase DNA binding protein 1 like gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1323647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12025223 CHD1L chromodomain helicase DNA binding protein 1 like gene DOID:630 genetic disease ISO RGD:1323647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025223 CHD1L chromodomain helicase DNA binding protein 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12025223 CHD1L chromodomain helicase DNA binding protein 1 like gene DOID:9007661 Dwarfism ISO RGD:1323647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12025223 CHD1L chromodomain helicase DNA binding protein 1 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12025250 AWAT1 acyl-CoA wax alcohol acyltransferase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12025250 AWAT1 acyl-CoA wax alcohol acyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:1346796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12025250 AWAT1 acyl-CoA wax alcohol acyltransferase 1 gene DOID:630 genetic disease ISO RGD:1346796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025266 LHX3 LIM homeobox 3 gene DOID:0050777 Joubert syndrome ISO RGD:1352685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12025266 LHX3 LIM homeobox 3 gene DOID:0060224 atrial fibrillation ISO RGD:1352685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12025266 LHX3 LIM homeobox 3 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1352685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12025266 LHX3 LIM homeobox 3 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1352685 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12025266 LHX3 LIM homeobox 3 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1352685 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12025266 LHX3 LIM homeobox 3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1352685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12025266 LHX3 LIM homeobox 3 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1352685 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12025266 LHX3 LIM homeobox 3 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1352685 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12025266 LHX3 LIM homeobox 3 gene DOID:0081097 Rafiq syndrome ISO RGD:1352685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12025266 LHX3 LIM homeobox 3 gene DOID:13938 amenorrhea ISO RGD:1352685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 12025266 LHX3 LIM homeobox 3 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1352685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 12025266 LHX3 LIM homeobox 3 gene DOID:3652 Leigh disease ISO RGD:1352685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12025266 LHX3 LIM homeobox 3 gene DOID:630 genetic disease ISO RGD:1352685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29261175|PMID:30262920 12025266 LHX3 LIM homeobox 3 gene DOID:9003666 Combined Pituitary Hormone Deficiency ISO RGD:1352685 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined PMID:16940453|PMID:25741868|PMID:28492532 12025266 LHX3 LIM homeobox 3 gene DOID:9004924 Combined Pituitary Hormone Deficiency, 3 ISO RGD:1352685 D RGD:7240710 20180130 OMIM 12025266 LHX3 LIM homeobox 3 gene DOID:9004924 Combined Pituitary Hormone Deficiency, 3 ISO RGD:1352685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome PMID:10835633|PMID:12780757|PMID:16199547|PMID:16394081|PMID:16940453|PMID:17327381|PMID:17438671|PMID:18407919|PMID:19837867|PMID:21249393|PMID:22286346|PMID:25741868|PMID:28492532|PMID:29261175|PMID:30262920 12025266 LHX3 LIM homeobox 3 gene DOID:9005344 Combined Pituitary Hormone Deficiency 1 ISO RGD:1352685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 PMID:28492532 12025266 LHX3 LIM homeobox 3 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1352685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 12025266 LHX3 LIM homeobox 3 gene DOID:9008340 Combined Pituitary Hormone Deficiency, 2 ISO RGD:1352685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive 12025266 LHX3 LIM homeobox 3 gene DOID:9406 hypopituitarism ISO RGD:736998 D RGD:9068941 20220825 MouseDO OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 12025266 LHX3 LIM homeobox 3 gene DOID:9410 panhypopituitarism ISO RGD:1352685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined PMID:16940453|PMID:25741868|PMID:28492532 12025284 DHRS13 dehydrogenase/reductase 13 gene DOID:630 genetic disease ISO RGD:1603266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025292 CDK4 cyclin dependent kinase 4 gene DOID:10283 prostate cancer ISO RGD:732061 D RGD:9068941 20200609 RGD PMID:16648554|REF_RGD_ID:2293560 12025292 CDK4 cyclin dependent kinase 4 gene DOID:10534 stomach cancer ISO RGD:732061 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:36988593 12025292 CDK4 cyclin dependent kinase 4 gene DOID:11054 urinary bladder cancer ISO RGD:621120 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:16896691|REF_RGD_ID:2289144 12025292 CDK4 cyclin dependent kinase 4 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732061 D RGD:9068941 20200609 RGD DNA:amplification PMID:11971182|REF_RGD_ID:2299056 12025292 CDK4 cyclin dependent kinase 4 gene DOID:11132 prostatic hypertrophy ISO RGD:621120 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:17962342|REF_RGD_ID:2289135 12025292 CDK4 cyclin dependent kinase 4 gene DOID:1612 breast cancer disease_progression ISO RGD:732061 D RGD:9068941 20200609 RGD PMID:16440198|REF_RGD_ID:2293576 12025292 CDK4 cyclin dependent kinase 4 gene DOID:1793 pancreatic cancer ISO RGD:621120 D RGD:9068941 20200609 RGD protein:increased expression:islet of Langerhans, nucleus (rat) PMID:22477723|REF_RGD_ID:13452386 12025292 CDK4 cyclin dependent kinase 4 gene DOID:1793 pancreatic cancer ISO RGD:732061 D RGD:9068941 20200609 RGD protein:increased expression:islet of Langerhans (human) PMID:22761470|REF_RGD_ID:13452384 12025292 CDK4 cyclin dependent kinase 4 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:732062 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (mouse) PMID:11159909|REF_RGD_ID:13452385 12025292 CDK4 cyclin dependent kinase 4 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:732062 D RGD:9068941 20200609 RGD PMID:24531709|REF_RGD_ID:13452387 12025292 CDK4 cyclin dependent kinase 4 gene DOID:1799 islet cell tumor ISO RGD:732061 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, islet of Langerhans (human) PMID:22761470|REF_RGD_ID:13452384 12025292 CDK4 cyclin dependent kinase 4 gene DOID:1909 melanoma ISO RGD:732061 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Melanoma PMID:11756559|PMID:15880589|PMID:21801156|PMID:23384855|PMID:23546221|PMID:24256466|PMID:25157968|PMID:26619011|PMID:28492532|PMID:29774366|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9425228 12025292 CDK4 cyclin dependent kinase 4 gene DOID:2154 nephroblastoma disease_progression ISO RGD:732061 D RGD:9068941 20200609 RGD PMID:15797629|REF_RGD_ID:2289153 12025292 CDK4 cyclin dependent kinase 4 gene DOID:2394 ovarian cancer ISO RGD:732061 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:26467025|PMID:28492532 12025292 CDK4 cyclin dependent kinase 4 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:732061 D RGD:9068941 20200609 RGD PMID:15161057|REF_RGD_ID:2293580 12025292 CDK4 cyclin dependent kinase 4 gene DOID:2696 Leydig cell tumor ISO RGD:732062 D RGD:9068941 20200609 RGD associated with Multiple Endocrine Neoplasia Type 1;protein:increased expression:testes PMID:18310289|REF_RGD_ID:2293582 12025292 CDK4 cyclin dependent kinase 4 gene DOID:305 carcinoma ISO RGD:732061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:14522882 12025292 CDK4 cyclin dependent kinase 4 gene DOID:3068 glioblastoma ISO RGD:732061 D RGD:9068941 20200609 RGD DNA:amplication PMID:23796897|REF_RGD_ID:13702089 12025292 CDK4 cyclin dependent kinase 4 gene DOID:3070 high grade glioma ISO RGD:732062 D RGD:9068941 20200609 RGD PMID:21844184|REF_RGD_ID:13702091 12025292 CDK4 cyclin dependent kinase 4 gene DOID:3070 high grade glioma disease_progression ISO RGD:732061 D RGD:9068941 20200609 RGD PMID:23761023|REF_RGD_ID:13702090 12025292 CDK4 cyclin dependent kinase 4 gene DOID:3369 Ewing sarcoma ISO RGD:732061 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ewing sarcoma PMID:24755471|PMID:25318351|PMID:25741868|PMID:26252490|PMID:26467025|PMID:28166811|PMID:28492532|PMID:30093976|PMID:30851086 12025292 CDK4 cyclin dependent kinase 4 gene DOID:3382 liposarcoma ISO RGD:732061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20601955|PMID:23569312 12025292 CDK4 cyclin dependent kinase 4 gene DOID:3459 breast carcinoma ISO RGD:732061 D RGD:9068941 20200609 RGD DNA:amplification PMID:9916925|REF_RGD_ID:2293583 12025292 CDK4 cyclin dependent kinase 4 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:732061 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, islet of Langerhans (human) PMID:29735403|REF_RGD_ID:13781899 12025292 CDK4 cyclin dependent kinase 4 gene DOID:3907 lung squamous cell carcinoma ISO RGD:732061 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:9751261|REF_RGD_ID:13464277 12025292 CDK4 cyclin dependent kinase 4 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:732061 D RGD:9068941 20200609 RGD PMID:24959380|REF_RGD_ID:13464275 12025292 CDK4 cyclin dependent kinase 4 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732061 D RGD:9068941 20200609 RGD PMID:24496383|REF_RGD_ID:13464276 12025292 CDK4 cyclin dependent kinase 4 gene DOID:3910 lung adenocarcinoma ISO RGD:732061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:11756559|PMID:15880589|PMID:21801156|PMID:22804906|PMID:23384855|PMID:23546221|PMID:24256466|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29774366|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9425228 12025292 CDK4 cyclin dependent kinase 4 gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:732061 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:22509328|REF_RGD_ID:13792559 12025292 CDK4 cyclin dependent kinase 4 gene DOID:4450 renal cell carcinoma ISO RGD:732061 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:15991006|REF_RGD_ID:2293579 12025292 CDK4 cyclin dependent kinase 4 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:732061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29464035 12025292 CDK4 cyclin dependent kinase 4 gene DOID:684 hepatocellular carcinoma ISO RGD:732061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26189965 12025292 CDK4 cyclin dependent kinase 4 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:621120 D RGD:9068941 20220714 RGD PMID:33841550|REF_RGD_ID:152998960 12025292 CDK4 cyclin dependent kinase 4 gene DOID:6846 familial melanoma ISO RGD:732061 D RGD:7240710 20190410 OMIM 12025292 CDK4 cyclin dependent kinase 4 gene DOID:6846 familial melanoma ISO RGD:732061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19690981|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:26976419|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:31159747|PMID:31570899|PMID:32645390|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 12025292 CDK4 cyclin dependent kinase 4 gene DOID:6846 familial melanoma ISO RGD:732061 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:26976419|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:31159747|PMID:31570899|PMID:32645390|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 12025292 CDK4 cyclin dependent kinase 4 gene DOID:6846 familial melanoma ISO RGD:732061 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:26976419|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31570899|PMID:32645390|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 12025292 CDK4 cyclin dependent kinase 4 gene DOID:6846 familial melanoma ISO RGD:732061 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:26976419|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31570899|PMID:32645390|PMID:34285288|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 12025292 CDK4 cyclin dependent kinase 4 gene DOID:6846 familial melanoma ISO RGD:732061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19690981|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:26976419|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29625052|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31570899|PMID:32645390|PMID:34285288|PMID:35264596|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 12025292 CDK4 cyclin dependent kinase 4 gene DOID:7698 non-functioning pancreatic endocrine tumor ISO RGD:732061 D RGD:9068941 20200609 RGD associated with multiple endocrine neoplasia type 1;mRNA:increased expression:islet of Langerhans (human) PMID:29149451|REF_RGD_ID:13781946 12025292 CDK4 cyclin dependent kinase 4 gene DOID:8923 skin melanoma ISO RGD:732061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:11756559|PMID:15880589|PMID:21801156|PMID:22804906|PMID:23384855|PMID:23546221|PMID:24256466|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29774366|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9425228 12025292 CDK4 cyclin dependent kinase 4 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:732061 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections;protein:increased expression:cervix epithelium PMID:18301453|REF_RGD_ID:2293574 12025292 CDK4 cyclin dependent kinase 4 gene DOID:9000217 Stomach Neoplasms ISO RGD:732061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21628965 12025292 CDK4 cyclin dependent kinase 4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:732061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:14522882 12025292 CDK4 cyclin dependent kinase 4 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:732061 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:11358847|REF_RGD_ID:2296041 12025292 CDK4 cyclin dependent kinase 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621120 D RGD:9068941 20200609 RGD PMID:16534847|REF_RGD_ID:2289284 12025292 CDK4 cyclin dependent kinase 4 gene DOID:9002170 Experimental Neoplasms ISO RGD:732061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20932960 12025292 CDK4 cyclin dependent kinase 4 gene DOID:9002762 Ovarian Neoplasms ISO RGD:732061 D RGD:9068941 20200609 RGD PMID:17692085|REF_RGD_ID:2299054 12025292 CDK4 cyclin dependent kinase 4 gene DOID:9002777 Brain Stem Neoplasms ISO RGD:732061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24098593 12025292 CDK4 cyclin dependent kinase 4 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:732061 D RGD:9068941 20200609 RGD DNA:amplification PMID:11311493|REF_RGD_ID:2299057 12025292 CDK4 cyclin dependent kinase 4 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:732061 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections;protein:increased expression:cervix epithelium PMID:18301453|REF_RGD_ID:2293574 12025292 CDK4 cyclin dependent kinase 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:621120 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland PMID:14522882|REF_RGD_ID:2293581 12025292 CDK4 cyclin dependent kinase 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:14522882|PMID:25221644 12025292 CDK4 cyclin dependent kinase 4 gene DOID:9005233 Experimental Mammary Neoplasms susceptibility ISO RGD:732062 D RGD:9068941 20200609 RGD PMID:16413469|REF_RGD_ID:2293577 12025292 CDK4 cyclin dependent kinase 4 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:732061 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:33727089 12025292 CDK4 cyclin dependent kinase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:31159747|PMID:31570899|PMID:32645390|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 12025292 CDK4 cyclin dependent kinase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732061 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31570899|PMID:32645390|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 12025292 CDK4 cyclin dependent kinase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732061 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31570899|PMID:32645390|PMID:34285288|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 12025292 CDK4 cyclin dependent kinase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:26976419|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29625052|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31118792|PMID:31159747|PMID:31570899|PMID:32645390|PMID:34285288|PMID:35264596|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 12025292 CDK4 cyclin dependent kinase 4 gene DOID:9007480 Hyperoxia ISO RGD:621120 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:18082050|REF_RGD_ID:2289663 12025292 CDK4 cyclin dependent kinase 4 gene DOID:9007502 Brain Neoplasms ISO RGD:732061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20932960 12025292 CDK4 cyclin dependent kinase 4 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:732061 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:14648178|REF_RGD_ID:2299055 12025292 CDK4 cyclin dependent kinase 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732061 D RGD:9068941 20200609 RGD PMID:18678431|REF_RGD_ID:2314611 12025292 CDK4 cyclin dependent kinase 4 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:732061 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:IVS4-40G>A (human) PMID:19695727|REF_RGD_ID:2314610 12025292 CDK4 cyclin dependent kinase 4 gene DOID:9538 multiple myeloma ISO RGD:732061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma PMID:11756559|PMID:15880589|PMID:21801156|PMID:22804906|PMID:23384855|PMID:23546221|PMID:24256466|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29774366|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9425228 12025292 CDK4 cyclin dependent kinase 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:732062 D RGD:9068941 20200609 RGD PMID:10319860|REF_RGD_ID:2314613 12025292 CDK4 cyclin dependent kinase 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:732062 D RGD:9068941 20220825 MouseDO OMIM:222100 12025292 CDK4 cyclin dependent kinase 4 gene DOID:9970 obesity susceptibility ISO RGD:732061 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:intron:IVS4-40G>A (human) PMID:19634152|REF_RGD_ID:2314609 12025309 ZNF410 zinc finger protein 410 gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1313783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 12025309 ZNF410 zinc finger protein 410 gene DOID:1059 intellectual disability ISO RGD:1313783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12025309 ZNF410 zinc finger protein 410 gene DOID:630 genetic disease ISO RGD:1313783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025344 PLCL2 phospholipase C like 2 gene DOID:0060417 3p deletion syndrome ISO RGD:1314267 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12025344 PLCL2 phospholipase C like 2 gene DOID:5419 schizophrenia ISO RGD:1314267 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12025359 VTN vitronectin gene DOID:0060903 thrombosis ISO RGD:736955 D RGD:9068941 20200609 RGD PMID:15069014|REF_RGD_ID:1580815 12025359 VTN vitronectin gene DOID:11832 visual epilepsy ISO RGD:3967 D RGD:9068941 20200609 RGD PMID:8721676|REF_RGD_ID:10003102 12025359 VTN vitronectin gene DOID:12132 granulomatosis with polyangiitis ISO RGD:736955 D RGD:9068941 20200609 RGD PMID:12126637|REF_RGD_ID:1580817 12025359 VTN vitronectin gene DOID:3049 Churg-Strauss syndrome ISO RGD:736955 D RGD:9068941 20200609 RGD PMID:12126637|REF_RGD_ID:1580817 12025359 VTN vitronectin gene DOID:3393 coronary artery disease ISO RGD:736955 D RGD:9068941 20200609 RGD PMID:15678274|REF_RGD_ID:1580816 12025359 VTN vitronectin gene DOID:5082 liver cirrhosis ISO RGD:736955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 12025359 VTN vitronectin gene DOID:576 proteinuria ISO RGD:3967 D RGD:9068941 20200609 RGD associated with Mesangial Proliferative Glomerulonephritis PMID:9621282|REF_RGD_ID:10003089 12025359 VTN vitronectin gene DOID:630 genetic disease ISO RGD:736955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025359 VTN vitronectin gene DOID:8778 Crohn's disease ISO RGD:736955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19751734 12025359 VTN vitronectin gene DOID:8947 diabetic retinopathy ISO RGD:3967 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:8804356|REF_RGD_ID:10040982 12025359 VTN vitronectin gene DOID:8947 diabetic retinopathy ISO RGD:736955 D RGD:9068941 20200609 RGD PMID:7536680|REF_RGD_ID:1580818 12025359 VTN vitronectin gene DOID:9002165 Diabetic Nephropathies ISO RGD:3967 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:glomerulus PMID:11728964|REF_RGD_ID:10003096 12025359 VTN vitronectin gene DOID:9008604 Radiation Pneumonitis ISO RGD:736955 D RGD:9068941 20200609 RGD Protein: increased expression: plasma PMID:20510197|REF_RGD_ID:5129484 12025371 TPD52 tumor protein D52 gene DOID:630 genetic disease ISO RGD:1315573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025371 TPD52 tumor protein D52 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17875733|PMID:27415467 12025371 TPD52 tumor protein D52 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1315573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 12025389 ARL2BP ADP ribosylation factor like GTPase 2 binding protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344137 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12025389 ARL2BP ADP ribosylation factor like GTPase 2 binding protein gene DOID:0110419 retinitis pigmentosa with or without situs inversus ISO RGD:1344137 D RGD:7240710 20180130 OMIM 12025389 ARL2BP ADP ribosylation factor like GTPase 2 binding protein gene DOID:0110419 retinitis pigmentosa with or without situs inversus ISO RGD:1344137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa with or without situs inversus PMID:17576681|PMID:23849777|PMID:27790702|PMID:28492532|PMID:34906502|PMID:9536098 12025389 ARL2BP ADP ribosylation factor like GTPase 2 binding protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344137 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12025389 ARL2BP ADP ribosylation factor like GTPase 2 binding protein gene DOID:10584 retinitis pigmentosa ISO RGD:1344137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:23849777|PMID:27790702 12025389 ARL2BP ADP ribosylation factor like GTPase 2 binding protein gene DOID:12336 male infertility ISO RGD:1616652 D RGD:9068941 20220825 MouseDO 12025389 ARL2BP ADP ribosylation factor like GTPase 2 binding protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1344137 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12025389 ARL2BP ADP ribosylation factor like GTPase 2 binding protein gene DOID:630 genetic disease ISO RGD:1344137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12025389 ARL2BP ADP ribosylation factor like GTPase 2 binding protein gene DOID:8501 fundus dystrophy ISO RGD:1344137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:27790702|PMID:28041643|PMID:28492532|PMID:30210231|PMID:32581362 12025418 OLFM2 olfactomedin 2 gene DOID:12849 autistic disorder ISO RGD:1320243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12025418 OLFM2 olfactomedin 2 gene DOID:630 genetic disease ISO RGD:1320243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025435 ARSJ arylsulfatase family member J gene DOID:12271 aniridia ISO RGD:1606235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 12025435 ARSJ arylsulfatase family member J gene DOID:630 genetic disease ISO RGD:1606235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025445 INTS13 integrator complex subunit 13 gene DOID:630 genetic disease ISO RGD:1342865 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025445 INTS13 integrator complex subunit 13 gene DOID:9001341 Chloracne ISO RGD:1342865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 12025472 CTSL cathepsin L gene DOID:0060180 colitis ISO RGD:10424 D RGD:9068941 20200609 RGD protein:increased activity:cecum, colon, spinal cord PMID:21802389|REF_RGD_ID:5686873 12025472 CTSL cathepsin L gene DOID:0080599 Coronavirus infectious disease ISO RGD:736036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081529|PMID:23678171|PMID:27733646 12025472 CTSL cathepsin L gene DOID:0080600 COVID-19 ISO RGD:736036 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12025472 CTSL cathepsin L gene DOID:10754 otitis media ISO RGD:2448 D RGD:9068941 20200609 RGD mRNA:decreased expression:middle ear mucosa (rat) PMID:15179208|REF_RGD_ID:1342442 12025472 CTSL cathepsin L gene DOID:1184 nephrotic syndrome ISO RGD:2448 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:glomerulus (rat) PMID:15197181|REF_RGD_ID:1304337 12025472 CTSL cathepsin L gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736036 D RGD:9068941 20200609 RGD PMID:19096818|REF_RGD_ID:2315555 12025472 CTSL cathepsin L gene DOID:12930 dilated cardiomyopathy ISO RGD:10424 D RGD:9068941 20220825 MouseDO 12025472 CTSL cathepsin L gene DOID:1936 atherosclerosis ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:12213722|REF_RGD_ID:5687152 12025472 CTSL cathepsin L gene DOID:2316 brain ischemia ISO RGD:2448 D RGD:9068941 20200609 RGD protein:increased activity:cerebrum (rat) PMID:18404379|REF_RGD_ID:2315571 12025472 CTSL cathepsin L gene DOID:2377 multiple sclerosis ISO RGD:10424 D RGD:9068941 20200609 RGD PMID:17086443|REF_RGD_ID:5686392 12025472 CTSL cathepsin L gene DOID:2945 severe acute respiratory syndrome ISO RGD:736036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081529|PMID:16339146|PMID:22496216|PMID:23678171 12025472 CTSL cathepsin L gene DOID:3565 meningioma ISO RGD:736036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19747051 12025472 CTSL cathepsin L gene DOID:4989 pancreatitis ISO RGD:2448 D RGD:9068941 20200609 RGD protein:altered processing:pancreas (rat) PMID:19805911|REF_RGD_ID:2315546 12025472 CTSL cathepsin L gene DOID:576 proteinuria ISO RGD:736036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3669494 12025472 CTSL cathepsin L gene DOID:630 genetic disease ISO RGD:736036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025472 CTSL cathepsin L gene DOID:684 hepatocellular carcinoma ISO RGD:2448 D RGD:9068941 20200609 RGD PMID:15641152|REF_RGD_ID:2315605 12025472 CTSL cathepsin L gene DOID:767 muscular atrophy ISO RGD:2448 D RGD:9068941 20200609 RGD mRNA:increased expression:soleus (rat) PMID:16928772|REF_RGD_ID:2315576 12025472 CTSL cathepsin L gene DOID:7998 hyperthyroidism ISO RGD:2448 D RGD:9068941 20200609 RGD mRNA:increased expression:extensor digitorum longus (rat) PMID:19777444|REF_RGD_ID:2315547 12025472 CTSL cathepsin L gene DOID:9000217 Stomach Neoplasms ISO RGD:736036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12025472 CTSL cathepsin L gene DOID:9000934 Sprains and Strains ISO RGD:2448 D RGD:9068941 20200609 RGD mRNA:increased expression:ligament (rat) PMID:15694131|REF_RGD_ID:2315597 12025472 CTSL cathepsin L gene DOID:9001542 Albuminuria ISO RGD:2448 D RGD:9068941 20200609 RGD associated with Hypertension PMID:19023196|REF_RGD_ID:2315726 12025472 CTSL cathepsin L gene DOID:9002801 Recurrence ISO RGD:736036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19747051 12025472 CTSL cathepsin L gene DOID:9005166 Contusions ISO RGD:2448 D RGD:9068941 20211224 RGD mRNA, protein:increased expression, increased activity:gastrocnemius (rat) PMID:11788364|REF_RGD_ID:631244 12025472 CTSL cathepsin L gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2448 D RGD:9068941 20200609 RGD mRNA:increased expression:gastrocnemius muscle (rat) PMID:14718385|REF_RGD_ID:1641826 12025472 CTSL cathepsin L gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:2448 D RGD:9068941 20200609 RGD protein:increased expression:annulus fibrosus (rat) PMID:15758467|REF_RGD_ID:2315595 12025472 CTSL cathepsin L gene DOID:9006487 Reoviridae Infections ISO RGD:10424 D RGD:9068941 20200609 RGD PMID:19640986|REF_RGD_ID:5686877 12025472 CTSL cathepsin L gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:2448 D RGD:9068941 20200609 RGD mRNA:increased expression:quadriceps (rat) PMID:16365386|REF_RGD_ID:2315588 12025472 CTSL cathepsin L gene DOID:9352 type 2 diabetes mellitus ISO RGD:736036 D RGD:9068941 20200609 RGD protein:increased expression:right auricular appendage (human) PMID:19074676|REF_RGD_ID:2315622 12025472 CTSL cathepsin L gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:10424 D RGD:9068941 20200609 RGD mRNA:increased expression:gastrocnemius muscle (mouse) PMID:12941783|REF_RGD_ID:2315625 12025472 CTSL cathepsin L gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:10424 D RGD:9068941 20200609 RGD PMID:19664906|REF_RGD_ID:2315524 12025492 BBOX1 gamma-butyrobetaine hydroxylase 1 gene DOID:1059 intellectual disability ISO RGD:732171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12025492 BBOX1 gamma-butyrobetaine hydroxylase 1 gene DOID:630 genetic disease ISO RGD:732171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025492 BBOX1 gamma-butyrobetaine hydroxylase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732171 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12025504 MC5R melanocortin 5 receptor gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:732421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12025504 MC5R melanocortin 5 receptor gene DOID:1059 intellectual disability ISO RGD:732421 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12025504 MC5R melanocortin 5 receptor gene DOID:630 genetic disease ISO RGD:732421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025504 MC5R melanocortin 5 receptor gene DOID:9004713 Acute-Phase Reaction ISO RGD:3058 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:22183812|REF_RGD_ID:6484138 12025510 STOM stomatin gene DOID:630 genetic disease ISO RGD:1312947 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12025521 ZP3 zona pellucida glycoprotein 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12025521 ZP3 zona pellucida glycoprotein 3 gene DOID:630 genetic disease ISO RGD:1352592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025521 ZP3 zona pellucida glycoprotein 3 gene DOID:9005770 Oocyte Maturation Defect 3 ISO RGD:1352592 D RGD:7240710 20200610 OMIM 12025521 ZP3 zona pellucida glycoprotein 3 gene DOID:9005770 Oocyte Maturation Defect 3 ISO RGD:1352592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 3 PMID:25741868|PMID:28886344|PMID:30810869 12025521 ZP3 zona pellucida glycoprotein 3 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1352592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 12025537 ADM5 adrenomedullin 5 (putative) gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:3499499 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12025537 ADM5 adrenomedullin 5 (putative) gene DOID:630 genetic disease ISO RGD:3499499 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025542 PROKR2 prokineticin receptor 2 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1353227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:18559922|PMID:24830383|PMID:25636053|PMID:25741868|PMID:26467025|PMID:27899157|PMID:28209183|PMID:28492532|PMID:28754744|PMID:29161432|PMID:31781422|PMID:33587123 12025542 PROKR2 prokineticin receptor 2 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1353227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:11259612|PMID:17054399|PMID:18559922|PMID:18682503|PMID:18826963|PMID:20022991|PMID:20696889|PMID:21858136|PMID:22466334|PMID:22927827|PMID:23386640|PMID:23533228|PMID:23596439|PMID:23643382|PMID:24031091|PMID:24276467|PMID:25741868|PMID:28492532|PMID:33227799|PMID:4276467|PMID:8954047 12025542 PROKR2 prokineticin receptor 2 gene DOID:0090092 hypogonadotropic hypogonadism 3 with or without anosmia ISO RGD:1353227 D RGD:7240710 20190102 OMIM 12025542 PROKR2 prokineticin receptor 2 gene DOID:0090092 hypogonadotropic hypogonadism 3 with or without anosmia ISO RGD:1353227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 3 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 3 without anosmia PMID:11259612|PMID:16537498|PMID:17054399|PMID:1855992|PMID:18559922|PMID:18682503|PMID:18723471|PMID:18826963|PMID:18985070|PMID:20022991|PMID:20502053|PMID:20696889|PMID:20981092|PMID:21209029|PMID:21247312|PMID:21858136|PMID:22035731|PMID:22319038|PMID:22399515|PMID:22466334|PMID:22745195|PMID:22773735|PMID:22927827|PMID:22995991|PMID:23082007|PMID:23200691|PMID:23386640|PMID:23533228|PMID:23596439|PMID:23643382|PMID:2403109|PMID:24031091|PMID:24204987|PMID:24276467|PMID:24753254|PMID:24830383|PMID:25531638|PMID:25636053|PMID:25678757|PMID:25741868|PMID:25759380|PMID:26031747|PMID:26467025|PMID:27899157|PMID:28209183|PMID:28492532|PMID:28754744|PMID:29161432|PMID:30311386|PMID:30430143|PMID:30576231|PMID:30773290|PMID:31093944|PMID:31781422|PMID:32763379|PMID:32870266|PMID:33227799|PMID:33587123|PMID:4276467|PMID:8954047 12025542 PROKR2 prokineticin receptor 2 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1353227 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12025542 PROKR2 prokineticin receptor 2 gene DOID:13938 amenorrhea ISO RGD:1353227 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:17054399|PMID:18682503|PMID:18826963|PMID:20022991|PMID:22466334|PMID:22745195|PMID:24830383|PMID:25741868|PMID:28492532|PMID:29161432|PMID:30773290|PMID:31093944|PMID:32870266 12025542 PROKR2 prokineticin receptor 2 gene DOID:1826 epilepsy ISO RGD:1353227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:17054399|PMID:18826963|PMID:20022991|PMID:21247312|PMID:21858136|PMID:22319038|PMID:22399515|PMID:22745195|PMID:23386640|PMID:23596439|PMID:24830383|PMID:25759380|PMID:28492532|PMID:29161432 12025542 PROKR2 prokineticin receptor 2 gene DOID:3614 Kallmann syndrome ISO RGD:1353227 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypogonadism with anosmia PMID:17054399|PMID:18682503|PMID:18826963|PMID:20022991|PMID:22466334|PMID:22745195|PMID:24830383|PMID:25741868|PMID:28492532|PMID:29161432|PMID:31093944|PMID:32870266 12025542 PROKR2 prokineticin receptor 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1353227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12025542 PROKR2 prokineticin receptor 2 gene DOID:5223 infertility ISO RGD:1353227 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Infertility PMID:16537498|PMID:17054399|PMID:18559922|PMID:18682503|PMID:18723471|PMID:18826963|PMID:20022991|PMID:20696889|PMID:21209029|PMID:21247312|PMID:22035731|PMID:22466334|PMID:22773735|PMID:23386640|PMID:23643382|PMID:24031091|PMID:24276467|PMID:24830383|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29161432 12025542 PROKR2 prokineticin receptor 2 gene DOID:630 genetic disease ISO RGD:1353227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11259612|PMID:17054399|PMID:18559922|PMID:18682503|PMID:18826963|PMID:20022991|PMID:20696889|PMID:21858136|PMID:22466334|PMID:22927827|PMID:23386640|PMID:23533228|PMID:23596439|PMID:23643382|PMID:24031091|PMID:24276467|PMID:25741868|PMID:28492532|PMID:33227799|PMID:4276467|PMID:8954047 12025542 PROKR2 prokineticin receptor 2 gene DOID:670 amphetamine abuse ISO RGD:1353227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20576534 12025542 PROKR2 prokineticin receptor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12025556 UBE2I ubiquitin conjugating enzyme E2 I gene DOID:0080325 tuberous sclerosis 2 ISO RGD:734464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12025556 UBE2I ubiquitin conjugating enzyme E2 I gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:734464 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12025556 UBE2I ubiquitin conjugating enzyme E2 I gene DOID:11054 urinary bladder cancer ISO RGD:734464 D RGD:9068941 20200609 RGD radiation-induced dysplasia and carcinoma in situ; protein:increased expression:bladder urothelium:increased in Chernobyl victims vs controls from uncontaminated areas of the Ukraine (p<0.001) PMID:16407042|REF_RGD_ID:2301343 12025556 UBE2I ubiquitin conjugating enzyme E2 I gene DOID:12930 dilated cardiomyopathy ISO RGD:734464 D RGD:9068941 20200609 RGD mRNA:increased expression:left ventricle PMID:23360823|REF_RGD_ID:13831294 12025556 UBE2I ubiquitin conjugating enzyme E2 I gene DOID:1826 epilepsy ISO RGD:734464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12025556 UBE2I ubiquitin conjugating enzyme E2 I gene DOID:1827 idiopathic generalized epilepsy ISO RGD:734464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12025556 UBE2I ubiquitin conjugating enzyme E2 I gene DOID:2394 ovarian cancer ISO RGD:734464 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:relative to normal ovarian epithelium from the same patient (p<0.01) PMID:15735760|REF_RGD_ID:2301345 12025556 UBE2I ubiquitin conjugating enzyme E2 I gene DOID:305 carcinoma ISO RGD:734464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12025556 UBE2I ubiquitin conjugating enzyme E2 I gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:734464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12025556 UBE2I ubiquitin conjugating enzyme E2 I gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12025556 UBE2I ubiquitin conjugating enzyme E2 I gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734464 D RGD:9068941 20200609 RGD MCF-7 human breast cancer cell tumors grown in nude mice PMID:15735760|REF_RGD_ID:2301345 12025580 SCAND1 SCAN domain containing 1 gene DOID:630 genetic disease ISO RGD:1318355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025604 TCERG1 transcription elongation regulator 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1323365 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12025604 TCERG1 transcription elongation regulator 1 gene DOID:630 genetic disease ISO RGD:1323365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025604 TCERG1 transcription elongation regulator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12025604 TCERG1 transcription elongation regulator 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323365 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12025604 TCERG1 transcription elongation regulator 1 gene DOID:9256 colorectal cancer ISO RGD:1323365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 12025635 NKX2-3 NK2 homeobox 3 gene DOID:630 genetic disease ISO RGD:1318340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025635 NKX2-3 NK2 homeobox 3 gene DOID:8577 ulcerative colitis ISO RGD:1318340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438405|PMID:18438406|PMID:20228799 12025635 NKX2-3 NK2 homeobox 3 gene DOID:8778 Crohn's disease ISO RGD:1318340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17554261|PMID:18438405|PMID:18438406 12025641 PM20D2 peptidase M20 domain containing 2 gene DOID:630 genetic disease ISO RGD:1317289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025652 APPBP2 amyloid beta precursor protein binding protein 2 gene DOID:0050777 Joubert syndrome ISO RGD:1315134 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12025652 APPBP2 amyloid beta precursor protein binding protein 2 gene DOID:11372 megacolon ISO RGD:1315134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12025652 APPBP2 amyloid beta precursor protein binding protein 2 gene DOID:630 genetic disease ISO RGD:1315134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025673 LEUTX leucine twenty homeobox gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:2289877 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12025673 LEUTX leucine twenty homeobox gene DOID:1339 Diamond-Blackfan anemia ISO RGD:2289877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12025673 LEUTX leucine twenty homeobox gene DOID:1342 congenital hypoplastic anemia ISO RGD:2289877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12025673 LEUTX leucine twenty homeobox gene DOID:2340 craniosynostosis ISO RGD:2289877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12025673 LEUTX leucine twenty homeobox gene DOID:630 genetic disease ISO RGD:2289877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025673 LEUTX leucine twenty homeobox gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:2289877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12025673 LEUTX leucine twenty homeobox gene DOID:9269 maple syrup urine disease ISO RGD:2289877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12025673 LEUTX leucine twenty homeobox gene DOID:9352 type 2 diabetes mellitus ISO RGD:2289877 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12025713 IL17RA interleukin 17 receptor A gene DOID:0111996 immunodeficiency 51 ISO RGD:1315246 D RGD:7240710 20180130 OMIM 12025713 IL17RA interleukin 17 receptor A gene DOID:0111996 immunodeficiency 51 ISO RGD:1315246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 | ClinVar Annotator: match by term: Immunodeficiency 51 PMID:16199547|PMID:17576681|PMID:21350122|PMID:24033266|PMID:24552284|PMID:24552285|PMID:25741868|PMID:26607704|PMID:26871944|PMID:27930337|PMID:28492532|PMID:9536098 12025713 IL17RA interleukin 17 receptor A gene DOID:10533 viral pneumonia ISO RGD:1315246 D RGD:9068941 20200618 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12025713 IL17RA interleukin 17 receptor A gene DOID:2058 chronic mucocutaneous candidiasis ISO RGD:1315246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial Candidiasis, Recessive PMID:24033266|PMID:25741868|PMID:28492532 12025713 IL17RA interleukin 17 receptor A gene DOID:2316 brain ischemia ISO RGD:1315246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 12025713 IL17RA interleukin 17 receptor A gene DOID:630 genetic disease ISO RGD:1315246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12025713 IL17RA interleukin 17 receptor A gene DOID:841 extrinsic allergic alveolitis ISO RGD:1315247 D RGD:9068941 20200609 RGD PMID:19414809|REF_RGD_ID:5144217 12025713 IL17RA interleukin 17 receptor A gene DOID:8893 psoriasis ISO RGD:1315246 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Psoriasis 12025713 IL17RA interleukin 17 receptor A gene DOID:9001488 Human Influenza ISO RGD:1315247 D RGD:9068941 20200609 RGD PMID:19783685|REF_RGD_ID:4889102 12025713 IL17RA interleukin 17 receptor A gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:1306559 D RGD:9068941 20220331 RGD PMID:30346985|REF_RGD_ID:151665755 12025713 IL17RA interleukin 17 receptor A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12025713 IL17RA interleukin 17 receptor A gene DOID:9005372 Inflammation ISO RGD:1315246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29724254 12025713 IL17RA interleukin 17 receptor A gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1315246 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12025713 IL17RA interleukin 17 receptor A gene DOID:9675 pulmonary emphysema ISO RGD:1315247 D RGD:9068941 20200609 RGD PMID:21647421|REF_RGD_ID:5144212 12025731 VWA3B von Willebrand factor A domain containing 3B gene DOID:0111614 autosomal recessive spinocerebellar ataxia 22 ISO RGD:1603168 D RGD:7240710 20190315 OMIM 12025731 VWA3B von Willebrand factor A domain containing 3B gene DOID:0111614 autosomal recessive spinocerebellar ataxia 22 ISO RGD:1603168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 22 PMID:25741868|PMID:26157035 12025731 VWA3B von Willebrand factor A domain containing 3B gene DOID:630 genetic disease ISO RGD:1603168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025731 VWA3B von Willebrand factor A domain containing 3B gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1603168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12025765 LOC100970702 olfactory receptor 8U3 gene DOID:1059 intellectual disability ISO RGD:1351573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12025765 LOC100970702 olfactory receptor 8U3 gene DOID:630 genetic disease ISO RGD:1351573 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025769 MEF2D myocyte enhancer factor 2D gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:733415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12025769 MEF2D myocyte enhancer factor 2D gene DOID:0111940 immunodeficiency 42 ISO RGD:733415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12025769 MEF2D myocyte enhancer factor 2D gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:733415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12025769 MEF2D myocyte enhancer factor 2D gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:733415 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12025769 MEF2D myocyte enhancer factor 2D gene DOID:12783 migraine without aura ISO RGD:733415 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22683712 12025769 MEF2D myocyte enhancer factor 2D gene DOID:1324 lung cancer treatment ISO RGD:733415 D RGD:9068941 20220224 RGD human cells in mouse model PMID:25472877|REF_RGD_ID:151361106 12025769 MEF2D myocyte enhancer factor 2D gene DOID:1540 parathyroid carcinoma ISO RGD:733415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12025769 MEF2D myocyte enhancer factor 2D gene DOID:5812 MHC class II deficiency ISO RGD:733415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12025769 MEF2D myocyte enhancer factor 2D gene DOID:630 genetic disease ISO RGD:733415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025769 MEF2D myocyte enhancer factor 2D gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12025788 CSNK1E casein kinase 1 epsilon gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:732829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12025788 CSNK1E casein kinase 1 epsilon gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:732829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 12025788 CSNK1E casein kinase 1 epsilon gene DOID:0090036 myoclonic dystonia 26 ISO RGD:732829 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12025788 CSNK1E casein kinase 1 epsilon gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:732829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12025788 CSNK1E casein kinase 1 epsilon gene DOID:10652 Alzheimer's disease ISO RGD:732829 D RGD:9068941 20200702 RGD protein:increased expression:CA1 field of hippocampus: PMID:10514399|REF_RGD_ID:10395229 12025788 CSNK1E casein kinase 1 epsilon gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12025788 CSNK1E casein kinase 1 epsilon gene DOID:3008 invasive ductal carcinoma ISO RGD:732829 D RGD:9068941 20200702 RGD DNA:mutation:CDS:multiple nonsynonymous mutations PMID:14871824|REF_RGD_ID:2306813 12025788 CSNK1E casein kinase 1 epsilon gene DOID:630 genetic disease ISO RGD:732829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025835 ELMOD3 ELMO domain containing 3 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1353080 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:25741868 12025835 ELMOD3 ELMO domain containing 3 gene DOID:0110533 autosomal recessive nonsyndromic deafness 88 ISO RGD:1353080 D RGD:7240710 20180130 OMIM 12025835 ELMOD3 ELMO domain containing 3 gene DOID:0110533 autosomal recessive nonsyndromic deafness 88 ISO RGD:1353080 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 88 PMID:24039609|PMID:25741868|PMID:28492532 12025835 ELMOD3 ELMO domain containing 3 gene DOID:630 genetic disease ISO RGD:1353080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12025835 ELMOD3 ELMO domain containing 3 gene DOID:9002982 Autosomal Dominant Nonsyndromic Deafness 81 ISO RGD:1353080 D RGD:7240710 20210908 OMIM 12025835 ELMOD3 ELMO domain containing 3 gene DOID:9002982 Autosomal Dominant Nonsyndromic Deafness 81 ISO RGD:1353080 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 81 PMID:25741868|PMID:28492532|PMID:29713870 12025870 FREM1 FRAS1 related extracellular matrix 1 gene DOID:0060673 Peters anomaly ISO RGD:1345384 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:21931569|PMID:26893459|PMID:28492532 12025870 FREM1 FRAS1 related extracellular matrix 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1616422 D RGD:9068941 20220825 MouseDO OMIM:158170 12025870 FREM1 FRAS1 related extracellular matrix 1 gene DOID:0080205 CAKUT ISO RGD:1345384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868|PMID:28492532 12025870 FREM1 FRAS1 related extracellular matrix 1 gene DOID:0080610 anterior segment dysgenesis 5 ISO RGD:1345384 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 PMID:21931569|PMID:26893459|PMID:28492532 12025870 FREM1 FRAS1 related extracellular matrix 1 gene DOID:0090001 Fraser syndrome ISO RGD:1616422 D RGD:9068941 20220825 MouseDO OMIM:219000 12025870 FREM1 FRAS1 related extracellular matrix 1 gene DOID:0111717 isolated cryptophthalmia ISO RGD:1616422 D RGD:9068941 20200609 RGD DNA:deletion, frame shift:cds, splice junction: PMID:23221805|REF_RGD_ID:11554181 12025870 FREM1 FRAS1 related extracellular matrix 1 gene DOID:0111717 isolated cryptophthalmia ISO RGD:1616422 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:c.1687A>T c (p.I563F)(mouse) PMID:23536828|REF_RGD_ID:11554185 12025870 FREM1 FRAS1 related extracellular matrix 1 gene DOID:10907 microcephaly ISO RGD:1345384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12025870 FREM1 FRAS1 related extracellular matrix 1 gene DOID:14686 Axenfeld-Rieger syndrome ISO RGD:1345384 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Iridogoniodysgenesis with somatic anomalies PMID:21931569|PMID:26893459|PMID:28492532 12025870 FREM1 FRAS1 related extracellular matrix 1 gene DOID:14766 renal agenesis ISO RGD:1345384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23221805 12025870 FREM1 FRAS1 related extracellular matrix 1 gene DOID:2340 craniosynostosis ISO RGD:1345384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trigonocephaly 12025870 FREM1 FRAS1 related extracellular matrix 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1345384 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Agenesis of hemidiaphragm PMID:23806086|PMID:24088041|PMID:25736269|PMID:25741868|PMID:28492532 12025870 FREM1 FRAS1 related extracellular matrix 1 gene DOID:630 genetic disease ISO RGD:1345384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11332973|PMID:21507892|PMID:25741868|PMID:28492532 12025870 FREM1 FRAS1 related extracellular matrix 1 gene DOID:784 chronic kidney disease ISO RGD:1345384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 12025870 FREM1 FRAS1 related extracellular matrix 1 gene DOID:9000566 Bifid Nose with or without Anorectal and Renal Anomalies ISO RGD:1345384 D RGD:7240710 20180130 OMIM 12025870 FREM1 FRAS1 related extracellular matrix 1 gene DOID:9000566 Bifid Nose with or without Anorectal and Renal Anomalies ISO RGD:1345384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bifid nose with or without anorectal and renal anomalies PMID:11332973|PMID:11822703|PMID:17576681|PMID:19732862|PMID:21507892|PMID:25741868|PMID:28492532|PMID:32926405|PMID:9536098 12025870 FREM1 FRAS1 related extracellular matrix 1 gene DOID:9003259 Marles Greenberg Persaud Syndrome ISO RGD:1345384 D RGD:7240710 20180130 OMIM 12025870 FREM1 FRAS1 related extracellular matrix 1 gene DOID:9003259 Marles Greenberg Persaud Syndrome ISO RGD:1345384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Manitoba Trichoanal syndrome | ClinVar Annotator: match by term: Marles Greenberg Persaud syndrome | ClinVar Annotator: match by term: Marles syndrome PMID:11332973|PMID:17352387|PMID:17576681|PMID:21507892|PMID:21931569|PMID:23112756|PMID:23333812|PMID:23806086|PMID:24088041|PMID:24115501|PMID:25736269|PMID:25741868|PMID:26893459|PMID:28492532|PMID:9536098 12025870 FREM1 FRAS1 related extracellular matrix 1 gene DOID:9003807 Bifid Nose ISO RGD:1345384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23221805 12025870 FREM1 FRAS1 related extracellular matrix 1 gene DOID:9005762 Trigonocephaly 2 ISO RGD:1345384 D RGD:7240710 20180130 OMIM 12025870 FREM1 FRAS1 related extracellular matrix 1 gene DOID:9005762 Trigonocephaly 2 ISO RGD:1345384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Trigonocephaly 2 PMID:11332973|PMID:17576681|PMID:21507892|PMID:21931569|PMID:25741868|PMID:26893459|PMID:28492532|PMID:9536098 12025870 FREM1 FRAS1 related extracellular matrix 1 gene DOID:9007261 Nonsyndromic Trigonocephaly ISO RGD:1345384 D RGD:9068941 20200609 RGD DNA:deletion, duplication,missense mutation:cds: PMID:21931569|REF_RGD_ID:11554186 12025870 FREM1 FRAS1 related extracellular matrix 1 gene DOID:9007261 Nonsyndromic Trigonocephaly ISO RGD:1616422 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:21931569|REF_RGD_ID:11554186 12025870 FREM1 FRAS1 related extracellular matrix 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1345384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23221805 12025870 FREM1 FRAS1 related extracellular matrix 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1616422 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:c.1687A>T c (p.I563F)(mouse) PMID:23536828|REF_RGD_ID:11554185 12025932 RSRC1 arginine and serine rich coiled-coil 1 gene DOID:0081231 autosomal recessive intellectual developmental disorder 70 ISO RGD:1602488 D RGD:7240710 20190605 OMIM 12025932 RSRC1 arginine and serine rich coiled-coil 1 gene DOID:0081231 autosomal recessive intellectual developmental disorder 70 ISO RGD:1602488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 70 PMID:25741868|PMID:28640246|PMID:29522154|PMID:32227164 12025932 RSRC1 arginine and serine rich coiled-coil 1 gene DOID:5419 schizophrenia ISO RGD:1602488 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12025932 RSRC1 arginine and serine rich coiled-coil 1 gene DOID:630 genetic disease ISO RGD:1602488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12025943 LOC100985111 olfactory receptor 52N2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1346756 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12025948 EEF1A2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25052858|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27441201|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 12025948 EEF1A2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 12025948 EEF1A2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1344342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532 12025948 EEF1A2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1344342 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 12025948 EEF1A2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0070068 autosomal dominant intellectual developmental disorder 38 ISO RGD:1344342 D RGD:7240710 20180130 OMIM 12025948 EEF1A2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0070068 autosomal dominant intellectual developmental disorder 38 ISO RGD:1344342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 38 PMID:18414213|PMID:23033978|PMID:23647072|PMID:24697219|PMID:25326326|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26682508|PMID:26795593|PMID:27441201|PMID:27652284|PMID:28135719|PMID:28378778|PMID:28492532|PMID:28628100|PMID:28911200|PMID:3066688|PMID:32160274|PMID:32196822|PMID:32429945|PMID:33004838 12025948 EEF1A2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1344342 D RGD:7240710 20180130 OMIM 12025948 EEF1A2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1344342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:14534157|PMID:17290276|PMID:17576681|PMID:18414213|PMID:19822871|PMID:20805988|PMID:23033978|PMID:23166088|PMID:23360469|PMID:23647072|PMID:23692823|PMID:24697219|PMID:24811917|PMID:25326326|PMID:25326635|PMID:25741868|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26467025|PMID:26633542|PMID:26682508|PMID:26740508|PMID:26758118|PMID:26795593|PMID:27441201|PMID:27652284|PMID:27779742|PMID:28135719|PMID:28378778|PMID:28492532|PMID:28628100|PMID:28911200|PMID:30109124|PMID:3066688|PMID:30866059|PMID:32160274|PMID:32196822|PMID:32429945|PMID:33004838|PMID:9536098 12025948 EEF1A2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1344342 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532 12025948 EEF1A2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0110798 hereditary spastic paraplegia 46 ISO RGD:1344342 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 46 PMID:25741868|PMID:28492532 12025948 EEF1A2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 12025948 EEF1A2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:1059 intellectual disability ISO RGD:1344342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18414213|PMID:23033978|PMID:23647072|PMID:25326326|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26795593|PMID:27441201|PMID:27652284|PMID:28378778|PMID:28492532|PMID:28628100|PMID:28911200|PMID:33004838 12025948 EEF1A2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:10652 Alzheimer's disease ISO RGD:1344342 D RGD:9068941 20200609 RGD protein:increased expression:CA1field of hippocampus: PMID:8750861|REF_RGD_ID:10401216 12025948 EEF1A2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:12849 autistic disorder ISO RGD:1344342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12025948 EEF1A2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1344342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12025948 EEF1A2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:1826 epilepsy ISO RGD:1344342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:26467025|PMID:28492532 12025948 EEF1A2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:1826 epilepsy ISO RGD:1344342 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Seizure 12025948 EEF1A2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:2394 ovarian cancer ISO RGD:1344342 D RGD:9068941 20200609 RGD DNA, mRNA:amplification, increased expression:ovary PMID:12053177|REF_RGD_ID:2303420 12025948 EEF1A2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:630 genetic disease ISO RGD:1344342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23033978|PMID:23647072|PMID:24697219|PMID:25326326|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26633542|PMID:26682508|PMID:26795593|PMID:27441201|PMID:27652284|PMID:28378778|PMID:28492532|PMID:28628100|PMID:28911200|PMID:30109124|PMID:3066688|PMID:32196822|PMID:32429945|PMID:7491491|PMID:9253415 12025948 EEF1A2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1344342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12025948 EEF1A2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:9002955 Nerve Degeneration ISO RGD:3781 D RGD:9068941 20200609 RGD protein:increased expression:CA1&CA3 fields of hippocampus: PMID:8750861|REF_RGD_ID:10401216 12025948 EEF1A2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344342 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12025948 EEF1A2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:9008582 Developmental Disease ISO RGD:1344342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12025948 EEF1A2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:1344342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 12025961 TASOR2 transcription activation suppressor family member 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1343867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12025961 TASOR2 transcription activation suppressor family member 2 gene DOID:5419 schizophrenia ISO RGD:1343867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12025961 TASOR2 transcription activation suppressor family member 2 gene DOID:630 genetic disease ISO RGD:1343867 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12026001 CAV2 caveolin 2 gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1343117 D RGD:9068941 20200609 RGD protein:increased expression:mucosa of tongue PMID:20558341|REF_RGD_ID:8661771 12026001 CAV2 caveolin 2 gene DOID:0060224 atrial fibrillation ISO RGD:1343117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062060 12026001 CAV2 caveolin 2 gene DOID:1067 open-angle glaucoma ISO RGD:1343117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20835238 12026001 CAV2 caveolin 2 gene DOID:1070 primary open angle glaucoma ISO RGD:1343117 D RGD:9068941 20200609 RGD DNA:SNPs: :rs10278782, rs1052990 (human) PMID:24572674|REF_RGD_ID:8661770 12026001 CAV2 caveolin 2 gene DOID:13544 low tension glaucoma susceptibility ISO RGD:1343117 D RGD:9068941 20200609 RGD DNA:SNP: :rs1052990 (human) PMID:23743525|REF_RGD_ID:8661774 12026001 CAV2 caveolin 2 gene DOID:3070 high grade glioma ISO RGD:620348 D RGD:9068941 20200609 RGD PMID:22528460|REF_RGD_ID:6784517 12026001 CAV2 caveolin 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12026001 CAV2 caveolin 2 gene DOID:630 genetic disease ISO RGD:1343117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12026001 CAV2 caveolin 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1343117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17379860 12026001 CAV2 caveolin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15583422 12026001 CAV2 caveolin 2 gene DOID:9002311 Experimental Autoimmune Myocarditis ISO RGD:620348 D RGD:9068941 20200609 RGD PMID:17060028|REF_RGD_ID:1625364 12026001 CAV2 caveolin 2 gene DOID:9970 obesity ISO RGD:620348 D RGD:9068941 20200609 RGD PMID:22492718|REF_RGD_ID:6784520 12026017 ZNF462 zinc finger protein 462 gene DOID:0060224 atrial fibrillation ISO RGD:1352850 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12026017 ZNF462 zinc finger protein 462 gene DOID:0112019 non-syndromic X-linked intellectual disability 19 ISO RGD:1352850 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 19 PMID:25741868 12026017 ZNF462 zinc finger protein 462 gene DOID:1059 intellectual disability ISO RGD:1352850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12026017 ZNF462 zinc finger protein 462 gene DOID:14320 generalized anxiety disorder ISO RGD:1318312 D RGD:9068941 20220825 MouseDO 12026017 ZNF462 zinc finger protein 462 gene DOID:1826 epilepsy ISO RGD:1352850 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12026017 ZNF462 zinc finger protein 462 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352850 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29059373 12026017 ZNF462 zinc finger protein 462 gene DOID:5426 primary ovarian insufficiency ISO RGD:1352850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12026017 ZNF462 zinc finger protein 462 gene DOID:630 genetic disease ISO RGD:1352850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:31616000 12026017 ZNF462 zinc finger protein 462 gene DOID:9005848 WEISS-KRUSZKA SYNDROME ISO RGD:1352850 D RGD:7240710 20191127 OMIM 12026017 ZNF462 zinc finger protein 462 gene DOID:9005848 WEISS-KRUSZKA SYNDROME ISO RGD:1352850 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Metopic ridging-ptosis-facial dysmorphism syndrome | ClinVar Annotator: match by term: Weiss-kruszka syndrome PMID:25741868|PMID:28492532|PMID:28513610|PMID:31361404 12026017 ZNF462 zinc finger protein 462 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1352850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:28513610 12026091 TXLNB taxilin beta gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1317484 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12026091 TXLNB taxilin beta gene DOID:630 genetic disease ISO RGD:1317484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12026117 UBE2J1 ubiquitin conjugating enzyme E2 J1 gene DOID:0080600 COVID-19 ISO RGD:1312877 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12026117 UBE2J1 ubiquitin conjugating enzyme E2 J1 gene DOID:630 genetic disease ISO RGD:1312877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12026129 NEMP2 nuclear envelope integral membrane protein 2 gene DOID:0111944 immunodeficiency 31B ISO RGD:2293905 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 12026129 NEMP2 nuclear envelope integral membrane protein 2 gene DOID:630 genetic disease ISO RGD:2293905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12026129 NEMP2 nuclear envelope integral membrane protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2293905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12026151 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:732028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545|PMID:30504930 12026151 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:0060892 late onset Parkinson's disease ISO RGD:732028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:12496759|PMID:15079038|PMID:15184637|PMID:19429166|PMID:23066323|PMID:24126627|PMID:25741868|PMID:28492532 12026151 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:0080855 Parkinsonism treatment ISO RGD:3202 D RGD:9068941 20210326 RGD PMID:31408200|REF_RGD_ID:124713575 12026151 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:12849 autistic disorder ISO RGD:732028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 12026151 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:14330 Parkinson's disease ISO RGD:732028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Dominant/Recessive 12026151 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:1826 epilepsy ISO RGD:732028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12026151 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:37 skin disease ISO RGD:732028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12026151 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:5419 schizophrenia ISO RGD:736400 D RGD:9068941 20220825 MouseDO OMIM:181500 12026151 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:630 genetic disease ISO RGD:732028 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32366965 12026151 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:732028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12026151 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732028 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32366965 12026151 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:9005106 Animal Toxoplasmosis ISO RGD:736400 D RGD:9068941 20210326 RGD PMID:25855987|REF_RGD_ID:11057198 12026151 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:9006288 INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM ISO RGD:732028 D RGD:7240710 20221214 OMIM 12026151 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:9006288 INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM ISO RGD:732028 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism PMID:25741868|PMID:29770430|PMID:31428396|PMID:31922365|PMID:32366965|PMID:33585677 12026151 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:9006359 Vitamin D Deficiency ISO RGD:3202 D RGD:9068941 20210326 RGD PMID:28365874|REF_RGD_ID:124713570 12026151 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:732028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder 12026151 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:9007964 Arsenic Poisoning ISO RGD:732028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12026151 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:9008 psoriatic arthritis ISO RGD:732028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19732956 12026151 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:9008086 Developmental Disabilities ISO RGD:732028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12026151 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16293616 12026151 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:9008582 Developmental Disease ISO RGD:732028 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12026173 VPS13D vacuolar protein sorting 13 homolog D gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1318152 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12026173 VPS13D vacuolar protein sorting 13 homolog D gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1318152 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12026173 VPS13D vacuolar protein sorting 13 homolog D gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1318152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:28492532|PMID:31680123 12026173 VPS13D vacuolar protein sorting 13 homolog D gene DOID:0111611 autosomal recessive spinocerebellar ataxia 4 ISO RGD:1318152 D RGD:7240710 20190315 OMIM 12026173 VPS13D vacuolar protein sorting 13 homolog D gene DOID:0111611 autosomal recessive spinocerebellar ataxia 4 ISO RGD:1318152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome PMID:11960835|PMID:25741868|PMID:28492532|PMID:29518281|PMID:29604224|PMID:34906502 12026173 VPS13D vacuolar protein sorting 13 homolog D gene DOID:3652 Leigh disease ISO RGD:1318152 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868 12026173 VPS13D vacuolar protein sorting 13 homolog D gene DOID:630 genetic disease ISO RGD:1318152 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:24776741|PMID:25741868|PMID:28492532|PMID:29518281|PMID:9536098 12026173 VPS13D vacuolar protein sorting 13 homolog D gene DOID:9004657 Weight Gain ISO RGD:1318152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12026173 VPS13D vacuolar protein sorting 13 homolog D gene DOID:9008386 Hydrops Fetalis ISO RGD:1318152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 12026256 CATSPERB cation channel sperm associated auxiliary subunit beta gene DOID:0080054 achondrogenesis type IA ISO RGD:1345422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12026256 CATSPERB cation channel sperm associated auxiliary subunit beta gene DOID:630 genetic disease ISO RGD:1345422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12026286 PRPF4B pre-mRNA processing factor 4B gene DOID:630 genetic disease ISO RGD:1317177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12026326 FBN3 fibrillin 3 gene DOID:0080490 mucolipidosis type IV ISO RGD:1350241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12026326 FBN3 fibrillin 3 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1350241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 12026326 FBN3 fibrillin 3 gene DOID:12849 autistic disorder ISO RGD:1350241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12026326 FBN3 fibrillin 3 gene DOID:630 genetic disease ISO RGD:1350241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12026326 FBN3 fibrillin 3 gene DOID:9006836 Contracture ISO RGD:1350241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures PMID:26752647 12026409 UGT2B15 UDP glucuronosyltransferase family 2 member B15 gene DOID:0060041 autism spectrum disorder ISO RGD:1343349 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12026409 UGT2B15 UDP glucuronosyltransferase family 2 member B15 gene DOID:630 genetic disease ISO RGD:1343349 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12026409 UGT2B15 UDP glucuronosyltransferase family 2 member B15 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1343349 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12026409 UGT2B15 UDP glucuronosyltransferase family 2 member B15 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343349 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:16859836 12026410 CHDH choline dehydrogenase gene DOID:6000 congestive heart failure ISO RGD:1347167 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12026410 CHDH choline dehydrogenase gene DOID:630 genetic disease ISO RGD:1347167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12026424 CYSLTR2 cysteinyl leukotriene receptor 2 gene DOID:0050848 obstructive sleep apnea ISO RGD:1352313 D RGD:9068941 20200609 RGD protein:increased expression:tonsil, T cell PMID:18490405|REF_RGD_ID:4888517 12026424 CYSLTR2 cysteinyl leukotriene receptor 2 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1352313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12026424 CYSLTR2 cysteinyl leukotriene receptor 2 gene DOID:0060500 drug allergy ISO RGD:1352313 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15970796 12026424 CYSLTR2 cysteinyl leukotriene receptor 2 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1352313 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481|PMID:20485159 12026424 CYSLTR2 cysteinyl leukotriene receptor 2 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1352313 D RGD:9068941 20200609 RGD DNA:SNPs: :-819T>G, 2078C>T, 2534A>G (human) PMID:15970796|REF_RGD_ID:5144000 12026424 CYSLTR2 cysteinyl leukotriene receptor 2 gene DOID:1059 intellectual disability ISO RGD:1352313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12026424 CYSLTR2 cysteinyl leukotriene receptor 2 gene DOID:10754 otitis media ISO RGD:9011989 D RGD:9068941 20200609 RGD PMID:20433028|REF_RGD_ID:11553910 12026424 CYSLTR2 cysteinyl leukotriene receptor 2 gene DOID:2841 asthma ISO RGD:1352313 D RGD:9068941 20200609 RGD DNA:polymorphism: :-1220A>C (human) PMID:15454733|REF_RGD_ID:5144003 12026424 CYSLTR2 cysteinyl leukotriene receptor 2 gene DOID:2841 asthma ISO RGD:1352313 D RGD:9068941 20200609 RGD DNA:polymorphism: :601A>G (human) PMID:15475736|REF_RGD_ID:5144002 12026424 CYSLTR2 cysteinyl leukotriene receptor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1352313 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15328359 12026424 CYSLTR2 cysteinyl leukotriene receptor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:732045 D RGD:9068941 20200609 RGD PMID:15328359|PMID:20497024|REF_RGD_ID:4781445|REF_RGD_ID:5143997 12026424 CYSLTR2 cysteinyl leukotriene receptor 2 gene DOID:4483 rhinitis ISO RGD:1352313 D RGD:9068941 20200609 RGD associated with Sinusitis;mRNA:increased expression:nasal cavity epithelium PMID:16689996|REF_RGD_ID:4783198 12026424 CYSLTR2 cysteinyl leukotriene receptor 2 gene DOID:6039 uveal melanoma ISO RGD:1352313 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:27089179|PMID:33288675 12026424 CYSLTR2 cysteinyl leukotriene receptor 2 gene DOID:630 genetic disease ISO RGD:1352313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12026424 CYSLTR2 cysteinyl leukotriene receptor 2 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:619797 D RGD:9068941 20210219 RGD mRNA, protein:increased expression:brain (rat) PMID:31933824|REF_RGD_ID:40903068 12026424 CYSLTR2 cysteinyl leukotriene receptor 2 gene DOID:9004009 Reperfusion Injury ISO RGD:619797 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:21664436|REF_RGD_ID:5144004 12026442 SPATA31F3 SPATA31 subfamily F member 3 gene DOID:0080942 anauxetic dysplasia ISO RGD:5487895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12026458 TCEANC2 transcription elongation factor A N-terminal and central domain containing 2 gene DOID:630 genetic disease ISO RGD:1606976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12026467 LOC100978251 conserved oligomeric Golgi complex subunit 8 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1316049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12026467 LOC100978251 conserved oligomeric Golgi complex subunit 8 gene DOID:0070260 congenital disorder of glycosylation type IIh ISO RGD:1316049 D RGD:7240710 20180130 OMIM 12026467 LOC100978251 conserved oligomeric Golgi complex subunit 8 gene DOID:0070260 congenital disorder of glycosylation type IIh ISO RGD:1316049 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CDG IIh | ClinVar Annotator: match by term: COG8-CDG PMID:16199547|PMID:17220172|PMID:17331980|PMID:21811164|PMID:23806237|PMID:25741868|PMID:28492532|PMID:30690882 12026467 LOC100978251 conserved oligomeric Golgi complex subunit 8 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1316049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:28492532 12026467 LOC100978251 conserved oligomeric Golgi complex subunit 8 gene DOID:630 genetic disease ISO RGD:1316049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12026477 RPGRIP1L RPGRIP1 like gene DOID:0050753 cerebellar ataxia ISO RGD:1603695 D RGD:9068941 20200609 RGD associated with Joubert Syndrome 7;DNA:mutations:exons: PMID:17558409|REF_RGD_ID:11073359 12026477 RPGRIP1L RPGRIP1 like gene DOID:0050777 Joubert syndrome ISO RGD:1603695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:17558407|PMID:17558409|PMID:17576681|PMID:17960139|PMID:18414213|PMID:18565097|PMID:19430481|PMID:19574260|PMID:19763152|PMID:20301500|PMID:20307669|PMID:21068128|PMID:21866095|PMID:22331178|PMID:22406018|PMID:22693042|PMID:23188109|PMID:23351400|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26092869|PMID:27434533|PMID:27717089|PMID:28378410|PMID:28492532|PMID:28771248|PMID:29343940|PMID:29620724|PMID:31390572|PMID:31980526|PMID:9536098 12026477 RPGRIP1L RPGRIP1 like gene DOID:0050778 Meckel syndrome ISO RGD:1603695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:17558407|PMID:17558409|PMID:18414213|PMID:19430481|PMID:20301500|PMID:21866095|PMID:25741868|PMID:26092869|PMID:28492532 12026477 RPGRIP1L RPGRIP1 like gene DOID:0060668 anencephaly ISO RGD:1603695 D RGD:9068941 20200609 RGD associated with Meckel Syndrome, Type 5;DNA:mutations:exons: PMID:17558409|REF_RGD_ID:11073359 12026477 RPGRIP1L RPGRIP1 like gene DOID:0070115 Meckel syndrome 1 ISO RGD:1603695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome PMID:17558407|PMID:17558409|PMID:18414213|PMID:19430481|PMID:20301500|PMID:21866095|PMID:25741868|PMID:26092869|PMID:28492532 12026477 RPGRIP1L RPGRIP1 like gene DOID:0070119 Meckel syndrome 5 ISO RGD:1603695 D RGD:7240710 20180130 OMIM 12026477 RPGRIP1L RPGRIP1 like gene DOID:0070119 Meckel syndrome 5 ISO RGD:1603695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 5 PMID:17558407|PMID:17558409|PMID:18414213|PMID:19430481|PMID:20301500|PMID:21068128|PMID:21866095|PMID:23351400|PMID:24033266|PMID:25741868|PMID:26092869|PMID:27434533|PMID:28492532|PMID:28771248|PMID:29343940|PMID:31390572 12026477 RPGRIP1L RPGRIP1 like gene DOID:0110414 retinitis pigmentosa 3 severity ISO RGD:1603695 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R744Q (rs2302677)(human) PMID:22183348|REF_RGD_ID:11352374 12026477 RPGRIP1L RPGRIP1 like gene DOID:0110980 Joubert syndrome 1 ISO RGD:1603695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:17558407|PMID:17558409|PMID:17576681|PMID:17960139|PMID:18414213|PMID:18565097|PMID:19430481|PMID:19574260|PMID:19763152|PMID:20301500|PMID:20307669|PMID:21866095|PMID:22406018|PMID:22693042|PMID:23188109|PMID:23351400|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26092869|PMID:27434533|PMID:27717089|PMID:28492532|PMID:29343940|PMID:29620724|PMID:29991045|PMID:9536098 12026477 RPGRIP1L RPGRIP1 like gene DOID:0110980 Joubert syndrome 1 ISO RGD:1603695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:17558407|PMID:17558409|PMID:17576681|PMID:17960139|PMID:18414213|PMID:18565097|PMID:19430481|PMID:19574260|PMID:19763152|PMID:20301500|PMID:20307669|PMID:21068128|PMID:21866095|PMID:22331178|PMID:22406018|PMID:22693042|PMID:23188109|PMID:23351400|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26092869|PMID:27434533|PMID:27717089|PMID:28378410|PMID:28492532|PMID:28771248|PMID:29343940|PMID:29620724|PMID:31390572|PMID:31980526|PMID:9536098 12026477 RPGRIP1L RPGRIP1 like gene DOID:0110980 Joubert syndrome 1 ISO RGD:1603695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:17558407|PMID:17558409|PMID:18414213|PMID:19430481|PMID:20301500|PMID:21866095|PMID:25741868|PMID:26092869|PMID:28492532 12026477 RPGRIP1L RPGRIP1 like gene DOID:0111002 Joubert syndrome 7 ISO RGD:1603695 D RGD:7240710 20180130 OMIM 12026477 RPGRIP1L RPGRIP1 like gene DOID:0111002 Joubert syndrome 7 ISO RGD:1603695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 7 PMID:16199547|PMID:17558407|PMID:17558409|PMID:17576681|PMID:17960139|PMID:18414213|PMID:18565097|PMID:19430481|PMID:19574260|PMID:20301500|PMID:21866095|PMID:23351400|PMID:25741868|PMID:26092869|PMID:27434533|PMID:28492532|PMID:28771248|PMID:29343940|PMID:31390572|PMID:9536098 12026477 RPGRIP1L RPGRIP1 like gene DOID:0111112 nephronophthisis 1 ISO RGD:1603695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:19430481|PMID:20301500|PMID:25741868|PMID:28492532 12026477 RPGRIP1L RPGRIP1 like gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1603695 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:19430481|PMID:20301500|PMID:25741868|PMID:28492532 12026477 RPGRIP1L RPGRIP1 like gene DOID:1059 intellectual disability ISO RGD:1603695 D RGD:9068941 20200609 RGD associated with Joubert Syndrome 7;DNA:mutations:exons: PMID:17558409|REF_RGD_ID:11073359 12026477 RPGRIP1L RPGRIP1 like gene DOID:10907 microcephaly ISO RGD:1603695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12026477 RPGRIP1L RPGRIP1 like gene DOID:12712 nephronophthisis ISO RGD:1603695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:18414213|PMID:19430481|PMID:20301500|PMID:25741868|PMID:27434533|PMID:28492532|PMID:28771248|PMID:29343940|PMID:31390572 12026477 RPGRIP1L RPGRIP1 like gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1603695 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:19430481|PMID:20301500|PMID:25741868|PMID:28492532 12026477 RPGRIP1L RPGRIP1 like gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1603695 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 12026477 RPGRIP1L RPGRIP1 like gene DOID:2786 cerebellar disease ISO RGD:1603695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17558407|PMID:17558409 12026477 RPGRIP1L RPGRIP1 like gene DOID:2975 cystic kidney disease ISO RGD:1603695 D RGD:9068941 20200609 RGD associated with Meckel Syndrome, Type 5;DNA:mutations:exons: PMID:17558409|REF_RGD_ID:11073359 12026477 RPGRIP1L RPGRIP1 like gene DOID:557 kidney disease ISO RGD:1603695 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:18414213|PMID:25741868|PMID:28492532 12026477 RPGRIP1L RPGRIP1 like gene DOID:5614 eye disease ISO RGD:1603695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17558407|PMID:17558409 12026477 RPGRIP1L RPGRIP1 like gene DOID:630 genetic disease ISO RGD:1603695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17558409|PMID:18414213|PMID:25741868|PMID:26092869|PMID:28378410|PMID:28492532 12026477 RPGRIP1L RPGRIP1 like gene DOID:8466 retinal degeneration ISO RGD:1603695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19430481 12026477 RPGRIP1L RPGRIP1 like gene DOID:8501 fundus dystrophy ISO RGD:1603695 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 12026477 RPGRIP1L RPGRIP1 like gene DOID:8725 vascular dementia susceptibility ISO RGD:1603695 D RGD:9068941 20200609 RGD DNA:SNPs:introns:rs16952362,rs17214955,rs17803830(human) PMID:22425971|REF_RGD_ID:13204815 12026477 RPGRIP1L RPGRIP1 like gene DOID:9000639 COACH Syndrome 1 ISO RGD:1603695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COACH syndrome 1 PMID:17558407|PMID:17558409|PMID:19430481|PMID:21866095|PMID:25741868|PMID:26092869|PMID:28492532|PMID:28771248|PMID:31390572 12026477 RPGRIP1L RPGRIP1 like gene DOID:9000983 Encephalocele ISO RGD:1603695 D RGD:9068941 20200609 RGD associated with Meckel Syndrome, Type 5;DNA:mutations:exons: PMID:17558409|REF_RGD_ID:11073359 12026477 RPGRIP1L RPGRIP1 like gene DOID:9001591 Ciliary Motility Disorders ISO RGD:1603695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17558407|PMID:17558409 12026477 RPGRIP1L RPGRIP1 like gene DOID:9003081 Growth Retardation, Developmental Delay, Coarse Facies, and Early Death ISO RGD:1603695 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death PMID:28492532 12026477 RPGRIP1L RPGRIP1 like gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1603695 D RGD:9068941 20200609 RGD associated with Meckel Syndrome, Type 5;DNA:mutations:exons: PMID:17558409|REF_RGD_ID:11073359 12026477 RPGRIP1L RPGRIP1 like gene DOID:9007694 COACH Syndrome 3 ISO RGD:1603695 D RGD:7240710 20201223 OMIM 12026477 RPGRIP1L RPGRIP1 like gene DOID:9007694 COACH Syndrome 3 ISO RGD:1603695 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: COACH syndrome 3 PMID:17558409|PMID:19574260|PMID:25741868|PMID:26092869|PMID:28492532 12026516 EFNA2 ephrin A2 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1314277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 12026516 EFNA2 ephrin A2 gene DOID:5339 cyclic hematopoiesis ISO RGD:1314277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12026516 EFNA2 ephrin A2 gene DOID:630 genetic disease ISO RGD:1314277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12026517 MYSM1 Myb like, SWIRM and MPN domains 1 gene DOID:614 lymphopenia ISO RGD:1551048 D RGD:9068941 20200609 RGD PMID:22184403|REF_RGD_ID:9589161 12026517 MYSM1 Myb like, SWIRM and MPN domains 1 gene DOID:630 genetic disease ISO RGD:1602839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12026517 MYSM1 Myb like, SWIRM and MPN domains 1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1602839 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:snps:introns: IVS1-1269C>T, IVS6+1700G>A (rs2811893, rs12092121) (human) PMID:21310492|REF_RGD_ID:9589162 12026517 MYSM1 Myb like, SWIRM and MPN domains 1 gene DOID:9006327 Bone Marrow Failure Syndrome 4 ISO RGD:1602839 D RGD:7240710 20190315 OMIM 12026517 MYSM1 Myb like, SWIRM and MPN domains 1 gene DOID:9006327 Bone Marrow Failure Syndrome 4 ISO RGD:1602839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bone marrow failure syndrome 4 PMID:16199547|PMID:22184403|PMID:24288411|PMID:25741868|PMID:26220525|PMID:28115216|PMID:28492532 12026562 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 gene DOID:0050690 brachyolmia ISO RGD:1315952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachyolmia PMID:22791835|PMID:23633440|PMID:24033266|PMID:28492532 12026562 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1315952 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 12026562 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 gene DOID:0050812 spondyloepimetaphyseal dysplasia, Pakistani type ISO RGD:1315952 D RGD:7240710 20180130 OMIM 12026562 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 gene DOID:0050812 spondyloepimetaphyseal dysplasia, Pakistani type ISO RGD:1315952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, pakistani type PMID:16199547|PMID:17576681|PMID:19474428|PMID:22791835|PMID:23633440|PMID:23824674|PMID:24033266|PMID:25326635|PMID:25594860|PMID:25741868|PMID:28492532|PMID:31313512|PMID:9536098|PMID:9714015|PMID:9771708 12026562 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1315952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 12026562 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 gene DOID:630 genetic disease ISO RGD:1315952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12026580 ESM1 endothelial cell specific molecule 1 gene DOID:630 genetic disease ISO RGD:737594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12026580 ESM1 endothelial cell specific molecule 1 gene DOID:684 hepatocellular carcinoma ISO RGD:737594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12026580 ESM1 endothelial cell specific molecule 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12026580 ESM1 endothelial cell specific molecule 1 gene DOID:9007188 Liver Neoplasms ISO RGD:737594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12026590 SFT2D3 SFT2 domain containing 3 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1603003 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 12026590 SFT2D3 SFT2 domain containing 3 gene DOID:630 genetic disease ISO RGD:1603003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12026596 SLC2A6 solute carrier family 2 member 6 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1319599 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 12026596 SLC2A6 solute carrier family 2 member 6 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1319599 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12026596 SLC2A6 solute carrier family 2 member 6 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1319599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12026596 SLC2A6 solute carrier family 2 member 6 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1319599 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12026596 SLC2A6 solute carrier family 2 member 6 gene DOID:0081097 Rafiq syndrome ISO RGD:1319599 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12026596 SLC2A6 solute carrier family 2 member 6 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1319599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12026596 SLC2A6 solute carrier family 2 member 6 gene DOID:3652 Leigh disease ISO RGD:1319599 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12026596 SLC2A6 solute carrier family 2 member 6 gene DOID:630 genetic disease ISO RGD:1319599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12026612 NOL7 nucleolar protein 7 gene DOID:630 genetic disease ISO RGD:1343047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12026624 DESI1 desumoylating isopeptidase 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1607044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12026624 DESI1 desumoylating isopeptidase 1 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1607044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 12026624 DESI1 desumoylating isopeptidase 1 gene DOID:630 genetic disease ISO RGD:1607044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12026637 C2CD4A C2 calcium dependent domain containing 4A gene DOID:10485 esophageal atresia ISO RGD:1606712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 12026637 C2CD4A C2 calcium dependent domain containing 4A gene DOID:2717 Bloom syndrome ISO RGD:1606712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12026637 C2CD4A C2 calcium dependent domain containing 4A gene DOID:630 genetic disease ISO RGD:1606712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12026637 C2CD4A C2 calcium dependent domain containing 4A gene DOID:9256 colorectal cancer ISO RGD:1606712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12026637 C2CD4A C2 calcium dependent domain containing 4A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1606712 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:20818381 12026641 NDRG1 N-myc downstream regulated 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1316419 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10831399|PMID:12872253|PMID:15322984|PMID:16199547|PMID:17470135|PMID:17576681|PMID:18787837|PMID:21892769|PMID:23996628|PMID:25108819|PMID:25231362|PMID:25741868|PMID:26002053|PMID:26467025|PMID:28492532|PMID:30311386|PMID:32376792|PMID:9536098 12026641 NDRG1 N-myc downstream regulated 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1316419 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:10831399|PMID:12872253|PMID:15322984|PMID:16199547|PMID:17470135|PMID:17576681|PMID:18787837|PMID:20301641|PMID:21892769|PMID:23996628|PMID:25108819|PMID:25231362|PMID:25741868|PMID:26002053|PMID:26467025|PMID:28492532|PMID:30311386|PMID:32376792|PMID:9536098 12026641 NDRG1 N-myc downstream regulated 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1316419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10831399|PMID:12872253|PMID:15322984|PMID:16199547|PMID:17470135|PMID:17576681|PMID:18787837|PMID:20301641|PMID:21892769|PMID:23996628|PMID:25108819|PMID:25231362|PMID:25741868|PMID:26002053|PMID:26467025|PMID:28492532|PMID:28776325|PMID:30311386|PMID:32376792|PMID:34169998|PMID:9536098 12026641 NDRG1 N-myc downstream regulated 1 gene DOID:0110186 Charcot-Marie-Tooth disease type 4D ISO RGD:1316419 D RGD:7240710 20180711 OMIM 12026641 NDRG1 N-myc downstream regulated 1 gene DOID:0110186 Charcot-Marie-Tooth disease type 4D ISO RGD:1316419 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D PMID:10831399|PMID:12872253|PMID:15322984|PMID:16199547|PMID:17470135|PMID:17576681|PMID:20301641|PMID:20582309|PMID:21892769|PMID:23393557|PMID:23996628|PMID:24136616|PMID:25108819|PMID:25231362|PMID:25741868|PMID:26002053|PMID:26467025|PMID:28454995|PMID:28492532|PMID:30311386|PMID:31673878|PMID:32376792|PMID:9536098 12026641 NDRG1 N-myc downstream regulated 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1316419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:12872253|PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792|PMID:9536098 12026641 NDRG1 N-myc downstream regulated 1 gene DOID:14264 benign neonatal seizures ISO RGD:1316419 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:28492532|PMID:29383681|PMID:29852413 12026641 NDRG1 N-myc downstream regulated 1 gene DOID:1909 melanoma ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 12026641 NDRG1 N-myc downstream regulated 1 gene DOID:3068 glioblastoma ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 12026641 NDRG1 N-myc downstream regulated 1 gene DOID:3069 malignant astrocytoma ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 12026641 NDRG1 N-myc downstream regulated 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778198 12026641 NDRG1 N-myc downstream regulated 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 12026641 NDRG1 N-myc downstream regulated 1 gene DOID:4310 smooth muscle tumor ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 12026641 NDRG1 N-myc downstream regulated 1 gene DOID:4450 renal cell carcinoma ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 12026641 NDRG1 N-myc downstream regulated 1 gene DOID:5241 hemangioblastoma ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 12026641 NDRG1 N-myc downstream regulated 1 gene DOID:5409 lung small cell carcinoma ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 12026641 NDRG1 N-myc downstream regulated 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22972152 12026641 NDRG1 N-myc downstream regulated 1 gene DOID:630 genetic disease ISO RGD:1316419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12872253|PMID:16199547|PMID:17576681|PMID:23996628|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792|PMID:34169998|PMID:9536098 12026641 NDRG1 N-myc downstream regulated 1 gene DOID:9000906 Oropharyngeal Neoplasms ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22972152 12026641 NDRG1 N-myc downstream regulated 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15867226|PMID:22972152 12026641 NDRG1 N-myc downstream regulated 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12026641 NDRG1 N-myc downstream regulated 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 12026641 NDRG1 N-myc downstream regulated 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 12026641 NDRG1 N-myc downstream regulated 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 12026641 NDRG1 N-myc downstream regulated 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22972152 12026641 NDRG1 N-myc downstream regulated 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 12026681 ITGB1BP2 integrin subunit beta 1 binding protein 2 gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:1350069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe combined immunodeficiency PMID:28492532 12026681 ITGB1BP2 integrin subunit beta 1 binding protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12026681 ITGB1BP2 integrin subunit beta 1 binding protein 2 gene DOID:12849 autistic disorder ISO RGD:1350069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12026681 ITGB1BP2 integrin subunit beta 1 binding protein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1558623 D RGD:9068941 20200609 RGD PMID:12496958|REF_RGD_ID:1582491 12026681 ITGB1BP2 integrin subunit beta 1 binding protein 2 gene DOID:630 genetic disease ISO RGD:1350069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12026681 ITGB1BP2 integrin subunit beta 1 binding protein 2 gene DOID:9007898 FG Syndrome 1 ISO RGD:1350069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 12026716 SLC26A4 solute carrier family 26 member 4 gene DOID:0050328 congenital hypothyroidism ISO RGD:736428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism 12026716 SLC26A4 solute carrier family 26 member 4 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:736428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:10700480|PMID:10874637|PMID:10902795|PMID:11317356|PMID:11502831|PMID:11748854|PMID:11919333|PMID:11932316|PMID:12112665|PMID:12676893|PMID:12974744|PMID:14508505|PMID:14679580|PMID:15355436|PMID:15574297|PMID:15679828|PMID:15747138|PMID:15811013|PMID:15933521|PMID:16053392|PMID:16283880|PMID:16460646|PMID:16570074|PMID:16711435|PMID:16924389|PMID:16950989|PMID:17309986|PMID:17443271|PMID:17576681|PMID:17718863|PMID:17766716|PMID:18167283|PMID:18285825|PMID:18641518|PMID:18813951|PMID:19017801|PMID:19040761|PMID:19169484|PMID:19287372|PMID:19426954|PMID:19509082|PMID:19608655|PMID:19786220|PMID:20137612|PMID:20597900|PMID:20668687|PMID:20842945|PMID:21154317|PMID:21366435|PMID:21704276|PMID:21961810|PMID:22116358|PMID:22116360|PMID:22903915|PMID:23151025|PMID:23185506|PMID:23273637|PMID:23296490|PMID:23336812|PMID:23504402|PMID:23638949|PMID:23718755|PMID:23770805|PMID:23918157|PMID:23958391|PMID:23965030|PMID:24007330|PMID:24033266|PMID:24105851|PMID:24224479|PMID:24248179|PMID:24338212|PMID:24949729|PMID:25015771|PMID:25266519|PMID:25290043|PMID:25317404|PMID:25372295|PMID:25394566|PMID:25468468|PMID:25491636|PMID:25525159|PMID:25741868|PMID:26100058|PMID:26226137|PMID:26252218|PMID:26445815|PMID:26683941|PMID:26752218|PMID:26763877|PMID:27541434|PMID:27573290|PMID:27771369|PMID:28444304|PMID:28492532|PMID:28604962|PMID:28941661|PMID:28964290|PMID:29372807|PMID:30077349|PMID:30303587|PMID:30311386|PMID:30622556|PMID:30693673|PMID:30760291|PMID:31581539|PMID:31599023|PMID:31700827|PMID:31971949|PMID:32417962|PMID:32447495|PMID:32747562|PMID:34170635|PMID:34599368|PMID:9398842|PMID:9536098|PMID:9618166|PMID:9618167 12026716 SLC26A4 solute carrier family 26 member 4 gene DOID:0060744 Pendred syndrome ISO RGD:736428 D RGD:7240710 20180130 OMIM 12026716 SLC26A4 solute carrier family 26 member 4 gene DOID:0060744 Pendred syndrome ISO RGD:736428 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B | ClinVar Annotator: match by term: Pendred syndrome PMID:10190331|PMID:10571950|PMID:10602116|PMID:10700480|PMID:10718825|PMID:10861298|PMID:10874637|PMID:10878664|PMID:10902795|PMID:11317356|PMID:11375792|PMID:11405873|PMID:11502831|PMID:11700190|PMID:11716048|PMID:11748854|PMID:11919333|PMID:11932316|PMID:12112665|PMID:12354788|PMID:12642503|PMID:12676893|PMID:12788906|PMID:12920581|PMID:12974744|PMID:14508505|PMID:14679580|PMID:14715652|PMID:15099345|PMID:15279074|PMID:15355436|PMID:15531480|PMID:15574297|PMID:15611902|PMID:15679828|PMID:15689455|PMID:15720248|PMID:15747138|PMID:15811013|PMID:15933521|PMID:16053392|PMID:16199547|PMID:16275403|PMID:16283880|PMID:16460646|PMID:16482981|PMID:16570074|PMID:16684826|PMID:16711435|PMID:16773579|PMID:16791000|PMID:16914891|PMID:16924389|PMID:16950989|PMID:16952406|PMID:17125574|PMID:17146393|PMID:17309986|PMID:17322586|PMID:17357124|PMID:17443271|PMID:17503324|PMID:17576681|PMID:17697873|PMID:17718863|PMID:17766716|PMID:17851929|PMID:17876604|PMID:17940114|PMID:18075246|PMID:18167283|PMID:18250610|PMID:18274916|PMID:18283249|PMID:18285825|PMID:18310264|PMID:18322141|PMID:18427006|PMID:18585793|PMID:18641518|PMID:18665027|PMID:18813951|PMID:18988928|PMID:19017801|PMID:19040761|PMID:19169484|PMID:19199245|PMID:19204907|PMID:19287372|PMID:19318451|PMID:19426954|PMID:19429184|PMID:19509082|PMID:19565036|PMID:19578036|PMID:19608655|PMID:19615760|PMID:19620588|PMID:19645628|PMID:19648736|PMID:19718752|PMID:19744334|PMID:19786220|PMID:19787632|PMID:19888295|PMID:20128824|PMID:20137612|PMID:20146813|PMID:20301640|PMID:20483489|PMID:20553101|PMID:20583162|PMID:20597900|PMID:20601923|PMID:20621367|PMID:20668687|PMID:20826203|PMID:20842945|PMID:20981092|PMID:21045265|PMID:21154317|PMID:21366435|PMID:21416585|PMID:21551164|PMID:21557232|PMID:21704276|PMID:21961810|PMID:22116358|PMID:22116359|PMID:22116360|PMID:22285650|PMID:22289209|PMID:22384008|PMID:22389666|PMID:22412181|PMID:22717225|PMID:22796198|PMID:22884721|PMID:22903915|PMID:22975760|PMID:23151025|PMID:23151031|PMID:23185506|PMID:23208854|PMID:23266159|PMID:23273637|PMID:23280318|PMID:23296490|PMID:23336812|PMID:23385134|PMID:23401162|PMID:23504402|PMID:23555729|PMID:23617710|PMID:23638949|PMID:23705809|PMID:23718755|PMID:23770805|PMID:23804846|PMID:23838540|PMID:23918157|PMID:23958391|PMID:23965030|PMID:23967202|PMID:23980138|PMID:24007330|PMID:24033266|PMID:24051746|PMID:24105851|PMID:24156272|PMID:24222258|PMID:2422447|PMID:24224479|PMID:24245694|PMID:24248179|PMID:24338212|PMID:24341454|PMID:24599119|PMID:24612839|PMID:24804242|PMID:24853665|PMID:24860705|PMID:24875928|PMID:24913939|PMID:24949729|PMID:25015771|PMID:25149764|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25290043|PMID:25317404|PMID:25358692|PMID:25372295|PMID:25373420|PMID:25394566|PMID:25468468|PMID:25488846|PMID:25491636|PMID:25525159|PMID:25528277|PMID:25587757|PMID:25724631|PMID:25741868|PMID:25761933|PMID:25788563|PMID:25830873|PMID:25910213|PMID:25991456|PMID:25999548|PMID:26022370|PMID:26035154|PMID:26100058|PMID:26188157|PMID:26226137|PMID:26252218|PMID:26346818|PMID:26397989|PMID:26445815|PMID:26467025|PMID:26485571|PMID:26549381|PMID:26683941|PMID:26744121|PMID:26752218|PMID:26763877|PMID:26764160|PMID:26886089|PMID:26894580|PMID:26900070|PMID:26969326|PMID:27068579|PMID:27090054|PMID:27214836|PMID:27240500|PMID:27247933|PMID:27344577|PMID:27373559|PMID:27466889|PMID:27541434|PMID:27573290|PMID:27610647|PMID:27771369|PMID:27792752|PMID:27861301|PMID:27863619|PMID:27884173|PMID:27997596|PMID:28000701|PMID:28215547|PMID:28273078|PMID:28281779|PMID:28341401|PMID:28389359|PMID:28444304|PMID:28492532|PMID:28576516|PMID:28604962|PMID:28717060|PMID:28786104|PMID:28941661|PMID:28964290|PMID:28984810|PMID:29048421|PMID:29196752|PMID:29293505|PMID:29372807|PMID:29501320|PMID:29546359|PMID:29605365|PMID:29739340|PMID:29907799|PMID:30068397|PMID:30077349|PMID:30086623|PMID:30113565|PMID:30139988|PMID:30154845|PMID:30240412|PMID:30245029|PMID:30268946|PMID:30303587|PMID:30311386|PMID:30484383|PMID:30622556 12026716 SLC26A4 solute carrier family 26 member 4 gene DOID:0060744 Pendred syndrome ISO RGD:736428 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B | ClinVar Annotator: match by term: Pendred syndrome PMID:30693673|PMID:30760291|PMID:30842343|PMID:30896630|PMID:31020658|PMID:31033086|PMID:31035178|PMID:31095577|PMID:31124793|PMID:31387071|PMID:31427586|PMID:31541171|PMID:31581539|PMID:31589614|PMID:31599023|PMID:31633822|PMID:31656273|PMID:31700827|PMID:31971949|PMID:32165640|PMID:32417962|PMID:32447495|PMID:32459320|PMID:32645618|PMID:32658404|PMID:32681043|PMID:32747562|PMID:32770655|PMID:33111345|PMID:33152970|PMID:33199029|PMID:33502066|PMID:33597575|PMID:33614372|PMID:33801843|PMID:34161886|PMID:34170635|PMID:34171171|PMID:34410491|PMID:34545167|PMID:34599368|PMID:34801268|PMID:35802133|PMID:36633841|PMID:8285825|PMID:8541853|PMID:8630498|PMID:9070918|PMID:9398842|PMID:9500541|PMID:9536098|PMID:9604973|PMID:9618166|PMID:9618167|PMID:9920104 12026716 SLC26A4 solute carrier family 26 member 4 gene DOID:0070280 primary autosomal recessive microcephaly 5 ISO RGD:736428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive PMID:12676893|PMID:19287372|PMID:24033266|PMID:25741868|PMID:28492532 12026716 SLC26A4 solute carrier family 26 member 4 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:736428 D RGD:7240710 20180130 OMIM 12026716 SLC26A4 solute carrier family 26 member 4 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:736428 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-Related Disorders | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 PMID:10190331|PMID:10602116|PMID:10700480|PMID:10718825|PMID:10861298|PMID:10874637|PMID:10878664|PMID:10902795|PMID:11317356|PMID:11375792|PMID:11405873|PMID:11502831|PMID:11558900|PMID:11700190|PMID:11748854|PMID:11905055|PMID:11919333|PMID:11932316|PMID:12112665|PMID:12354788|PMID:12642503|PMID:12676893|PMID:12788906|PMID:12974744|PMID:14508505|PMID:14679580|PMID:14715652|PMID:15099345|PMID:15279074|PMID:15355436|PMID:15531480|PMID:15574297|PMID:15679828|PMID:15689455|PMID:15720248|PMID:15747138|PMID:15811013|PMID:15933521|PMID:16053392|PMID:16199547|PMID:16283880|PMID:16460646|PMID:16570074|PMID:16684826|PMID:16711435|PMID:16773579|PMID:16791000|PMID:16914891|PMID:16924389|PMID:16950989|PMID:16952406|PMID:17146393|PMID:17309986|PMID:17322586|PMID:17357124|PMID:17443271|PMID:17503324|PMID:17576681|PMID:17697873|PMID:17718863|PMID:17766716|PMID:17851929|PMID:17876604|PMID:17940114|PMID:18167283|PMID:18274916|PMID:18283249|PMID:18285825|PMID:18310264|PMID:18322141|PMID:18381613|PMID:18427006|PMID:18585793|PMID:18641518|PMID:18813951|PMID:18988928|PMID:19017801|PMID:19040761|PMID:19169484|PMID:19204907|PMID:19287372|PMID:19426954|PMID:19429184|PMID:19509082|PMID:19565036|PMID:19578036|PMID:19608655|PMID:19615760|PMID:19620588|PMID:19645628|PMID:19648736|PMID:19718752|PMID:19744334|PMID:19786220|PMID:19787632|PMID:19888295|PMID:20128824|PMID:20301640|PMID:20553101|PMID:20583162|PMID:20597900|PMID:20601923|PMID:20621367|PMID:20668687|PMID:20826203|PMID:20842945|PMID:20981092|PMID:21045265|PMID:21154317|PMID:21366435|PMID:21416585|PMID:21551164|PMID:21704276|PMID:21961810|PMID:22116358|PMID:22116359|PMID:22116360|PMID:22285650|PMID:22289209|PMID:22384008|PMID:22389666|PMID:22412181|PMID:22717225|PMID:22796198|PMID:22884721|PMID:22903915|PMID:22975760|PMID:23151025|PMID:23151031|PMID:23185506|PMID:23208854|PMID:23266159|PMID:23273637|PMID:23280318|PMID:23296490|PMID:23336812|PMID:23385134|PMID:23401162|PMID:23504402|PMID:23555729|PMID:23638949|PMID:23705809|PMID:23718755|PMID:23770805|PMID:23804846|PMID:23838540|PMID:23918157|PMID:23958391|PMID:23965030|PMID:23967202|PMID:23980138|PMID:24007330|PMID:24033266|PMID:24051746|PMID:24105851|PMID:24156272|PMID:24224479|PMID:24245694|PMID:24248179|PMID:24338212|PMID:24341454|PMID:24599119|PMID:24612839|PMID:24853665|PMID:24860705|PMID:24875928|PMID:24913939|PMID:24949729|PMID:24989646|PMID:25149764|PMID:25262649|PMID:25266519|PMID:25290043|PMID:25317404|PMID:25372295|PMID:25373420|PMID:25394566|PMID:25468468|PMID:25491636|PMID:25525159|PMID:25572613|PMID:25587757|PMID:25741868|PMID:25761933|PMID:25788563|PMID:25830873|PMID:25910213|PMID:25991456|PMID:25999548|PMID:26022370|PMID:26035154|PMID:26100058|PMID:26188157|PMID:26226137|PMID:26252218|PMID:26346818|PMID:26397989|PMID:26445815|PMID:26467025|PMID:26485571|PMID:26549381|PMID:26683941|PMID:26744121|PMID:26752218|PMID:26763877|PMID:26764160|PMID:26886089|PMID:26894580|PMID:26900070|PMID:26969326|PMID:27214836|PMID:27246798|PMID:27344577|PMID:27373559|PMID:27541434|PMID:27573290|PMID:27771369|PMID:27861301|PMID:27884173|PMID:27997596|PMID:28000701|PMID:28273078|PMID:28281779|PMID:28341401|PMID:28444304|PMID:28492532|PMID:28604962|PMID:28717060|PMID:28786104|PMID:28941661|PMID:28964290|PMID:28984810|PMID:29048421|PMID:29196752|PMID:29293505|PMID:29372807|PMID:29546359|PMID:29739340|PMID:29907799|PMID:30068397|PMID:30077349|PMID:30086623|PMID:30139988|PMID:30240412|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30484383|PMID:30622556|PMID:30693673|PMID:30760291|PMID:31020658|PMID:31033086|PMID:31035178|PMID:31095577|PMID:31124793|PMID:31387071|PMID:31427586|PMID:31581539|PMID:31589614|PMID:31599023|PMID:31633822|PMID:31700827|PMID:31971949|PMID:32165640|PMID:32447495|PMID:32645618|PMID:32747562|PMID:33111345|PMID:33152970|PMID:33597575|PMID:33614372|PMID:34171171|PMID:34545167|PMID:34599368|PMID:8285825|PMID:8541853|PMID:8630498|PMID:9070918|PMID:9398842|PMID:9500541|PMID:9536098|PMID:9604973|PMID:9618166|PMID:9618167 12026716 SLC26A4 solute carrier family 26 member 4 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:736428 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 | ClinVar Annotator: match by term: SLC26A4-related disorder PMID:10190331|PMID:10571950|PMID:10602116|PMID:10700480|PMID:10718825|PMID:10861298|PMID:10874637|PMID:10878664|PMID:10902795|PMID:11317356|PMID:11375792|PMID:11405873|PMID:11502831|PMID:11558900|PMID:11700190|PMID:11748854|PMID:11905055|PMID:11919333|PMID:11932316|PMID:12112665|PMID:12354788|PMID:12642503|PMID:12676893|PMID:12788906|PMID:12974744|PMID:14508505|PMID:14679580|PMID:14715652|PMID:15099345|PMID:15279074|PMID:15355436|PMID:15531480|PMID:15574297|PMID:15679828|PMID:15689455|PMID:15720248|PMID:15747138|PMID:15811013|PMID:15933521|PMID:16053392|PMID:16199547|PMID:16283880|PMID:16460646|PMID:16570074|PMID:16684826|PMID:16711435|PMID:16773579|PMID:16791000|PMID:16914891|PMID:16924389|PMID:16950989|PMID:16952406|PMID:17146393|PMID:17309986|PMID:17322586|PMID:17357124|PMID:17443271|PMID:17503324|PMID:17576681|PMID:17697873|PMID:17718863|PMID:17766716|PMID:17851929|PMID:17876604|PMID:17940114|PMID:18167283|PMID:18250610|PMID:18274916|PMID:18283249|PMID:18285825|PMID:18310264|PMID:18322141|PMID:18427006|PMID:18585793|PMID:18641518|PMID:18665027|PMID:18813951|PMID:18988928|PMID:19017801|PMID:19040761|PMID:19169484|PMID:19204907|PMID:19287372|PMID:19426954|PMID:19429184|PMID:19509082|PMID:19565036|PMID:19578036|PMID:19608655|PMID:19615760|PMID:19620588|PMID:19645628|PMID:19648736|PMID:19718752|PMID:19744334|PMID:19786220|PMID:19787632|PMID:19888295|PMID:20128824|PMID:20301640|PMID:20553101|PMID:20583162|PMID:20597900|PMID:20601923|PMID:20621367|PMID:20668687|PMID:20826203|PMID:20842945|PMID:20981092|PMID:21045265|PMID:21154317|PMID:21366435|PMID:21416585|PMID:21551164|PMID:21557232|PMID:21704276|PMID:21961810|PMID:22116358|PMID:22116359|PMID:22116360|PMID:22285650|PMID:22289209|PMID:22384008|PMID:22389666|PMID:22412181|PMID:22717225|PMID:22796198|PMID:22884721|PMID:22903915|PMID:22975760|PMID:23151025|PMID:23151031|PMID:23185506|PMID:23208854|PMID:23266159|PMID:23273637|PMID:23280318|PMID:23296490|PMID:23336812|PMID:23385134|PMID:23401162|PMID:23504402|PMID:23555729|PMID:23617710|PMID:23638949|PMID:23705809|PMID:23718755|PMID:23755160|PMID:23770805|PMID:23804846|PMID:23838540|PMID:23918157|PMID:23958391|PMID:23965030|PMID:23967202|PMID:23980138|PMID:24007330|PMID:24033266|PMID:24051746|PMID:24105851|PMID:24156272|PMID:24222258|PMID:2422447|PMID:24224479|PMID:24245694|PMID:24248179|PMID:24338212|PMID:24341454|PMID:24599119|PMID:24612839|PMID:24853665|PMID:24860705|PMID:24875928|PMID:24913939|PMID:24949729|PMID:24989646|PMID:25149764|PMID:25262649|PMID:25266519|PMID:25290043|PMID:25317404|PMID:25372295|PMID:25373420|PMID:25394566|PMID:25468468|PMID:25488846|PMID:25491636|PMID:25525159|PMID:25572613|PMID:25587757|PMID:25741868|PMID:25761933|PMID:25788563|PMID:25830873|PMID:25910213|PMID:25991456|PMID:25999548|PMID:26022370|PMID:26035154|PMID:26100058|PMID:26188157|PMID:26226137|PMID:26252218|PMID:26346818|PMID:26397989|PMID:26445815|PMID:26467025|PMID:26485571|PMID:26549381|PMID:26683941|PMID:26744121|PMID:26752218|PMID:26763877|PMID:26764160|PMID:26886089|PMID:26894580|PMID:26900070|PMID:26969326|PMID:27090054|PMID:27214836|PMID:27246798|PMID:27247933|PMID:27344577|PMID:27373559|PMID:27541434|PMID:27573290|PMID:27610647|PMID:27771369|PMID:27792752|PMID:27861301|PMID:27884173|PMID:27997596|PMID:28000701|PMID:28215547|PMID:28273078|PMID:28281779|PMID:28341401|PMID:28389359|PMID:28444304|PMID:28492532|PMID:28576516|PMID:28604962|PMID:28717060|PMID:28786104|PMID:28941661|PMID:28964290|PMID:28984810|PMID:29048421|PMID:29196752|PMID:29293505|PMID:29372807|PMID:29501320|PMID:29546359|PMID:29605365|PMID:29739340|PMID:29907799|PMID:30068397|PMID:30077349|PMID:30086623|PMID:30139988|PMID:30154845|PMID:30240412|PMID:30245029|PMID:30268946|PMID:30303587|PMID:30311386|PMID:30484383|PMID:30622556|PMID:30693673|PMID:30760291|PMID:30842343|PMID:30896630|PMID:31020658|PMID:31033086|PMID:31035178|PMID:31095577|PMID:31124793|PMID:31387071|PMID:31427586|PMID:31581539|PMID:31589614|PMID:31599023|PMID:31633822|PMID:31656273|PMID:31700827 12026716 SLC26A4 solute carrier family 26 member 4 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:736428 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 | ClinVar Annotator: match by term: SLC26A4-related disorder PMID:31971949|PMID:32165640|PMID:32417962|PMID:32447495|PMID:32459320|PMID:32645618|PMID:32658404|PMID:32681043|PMID:32747562|PMID:33111345|PMID:33152970|PMID:33199029|PMID:33502066|PMID:33597575|PMID:33614372|PMID:33801843|PMID:34161886|PMID:34170635|PMID:34171171|PMID:34410491|PMID:34545167|PMID:34599368|PMID:34801268|PMID:35802133|PMID:36633841|PMID:8285825|PMID:8541853|PMID:8630498|PMID:9070918|PMID:9398842|PMID:9500541|PMID:9536098|PMID:9604973|PMID:9618166|PMID:9618167 12026716 SLC26A4 solute carrier family 26 member 4 gene DOID:10003 sensorineural hearing loss ISO RGD:736428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15279074|PMID:16053392|PMID:17322586 12026716 SLC26A4 solute carrier family 26 member 4 gene DOID:10763 hypertension ISO RGD:736429 D RGD:9068941 20200609 RGD PMID:17120771|REF_RGD_ID:7411553 12026716 SLC26A4 solute carrier family 26 member 4 gene DOID:12176 goiter ISO RGD:736428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15279074|PMID:16053392|PMID:17322586 12026716 SLC26A4 solute carrier family 26 member 4 gene DOID:12176 goiter ISO RGD:736428 D RGD:9068941 20200609 RGD DNA:deletion, missense mutation:cds:c.1341delG, p.H723R (human) PMID:12974744|REF_RGD_ID:1599217 12026716 SLC26A4 solute carrier family 26 member 4 gene DOID:1459 hypothyroidism ISO RGD:736428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:25741868 12026716 SLC26A4 solute carrier family 26 member 4 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:736428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:11317356|PMID:12642503|PMID:14679580|PMID:15099345|PMID:15355436|PMID:16570074|PMID:16950989|PMID:17503324|PMID:18285825|PMID:19017801|PMID:20597900|PMID:22285650|PMID:23336812|PMID:24033266|PMID:24224479|PMID:25372295|PMID:25394566|PMID:25741868|PMID:28492532 12026716 SLC26A4 solute carrier family 26 member 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12026716 SLC26A4 solute carrier family 26 member 4 gene DOID:630 genetic disease ISO RGD:736428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 12026716 SLC26A4 solute carrier family 26 member 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12026716 SLC26A4 solute carrier family 26 member 4 gene DOID:9002802 Acidoses ISO RGD:3293 D RGD:9068941 20200609 RGD mRNA:decreased expression:renal cortex (rat) PMID:12388388|REF_RGD_ID:634144 12026716 SLC26A4 solute carrier family 26 member 4 gene DOID:9004538 Hearing Loss ISO RGD:736428 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:10700480|PMID:10861298|PMID:11317356|PMID:11375792|PMID:11932316|PMID:12354788|PMID:12788906|PMID:14679580|PMID:15279074|PMID:15355436|PMID:15679828|PMID:15689455|PMID:16570074|PMID:16950989|PMID:17503324|PMID:18283249|PMID:18285825|PMID:18310264|PMID:18322141|PMID:19017801|PMID:19204907|PMID:19509082|PMID:19787632|PMID:20301640|PMID:20553101|PMID:20597900|PMID:20842945|PMID:21045265|PMID:21551164|PMID:22717225|PMID:23185506|PMID:23208854|PMID:23273637|PMID:23336812|PMID:23401162|PMID:23555729|PMID:23804846|PMID:23918157|PMID:23965030|PMID:24033266|PMID:24156272|PMID:24224479|PMID:25290043|PMID:25372295|PMID:25373420|PMID:25741868|PMID:25788563|PMID:25910213|PMID:25991456|PMID:25999548|PMID:26445815|PMID:26683941|PMID:26752218|PMID:26763877|PMID:26969326|PMID:27771369|PMID:28273078|PMID:28492532|PMID:28964290|PMID:29196752|PMID:29546359|PMID:30068397|PMID:30139988|PMID:30240412|PMID:30245029|PMID:30311386|PMID:31599023|PMID:31633822|PMID:32747562|PMID:33152970|PMID:34599368|PMID:9070918|PMID:9500541|PMID:9618166|PMID:9618167 12026716 SLC26A4 solute carrier family 26 member 4 gene DOID:9005954 Mondini Dysplasia ISO RGD:736428 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:11317356|REF_RGD_ID:7421508 12026716 SLC26A4 solute carrier family 26 member 4 gene DOID:9006380 Bilateral Hearing Loss ISO RGD:736428 D RGD:9068941 20200609 RGD associated with Enlarged Vestibular Aqueduct;DNA:missense mutation:cds:p.V138L (human) PMID:19645628|REF_RGD_ID:7411669 12026716 SLC26A4 solute carrier family 26 member 4 gene DOID:9008681 Deafness ISO RGD:736428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness PMID:11317356|PMID:28492532|PMID:29372807|PMID:30303587|PMID:34170635 12026745 RUNDC3A RUN domain containing 3A gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1605704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 12026745 RUNDC3A RUN domain containing 3A gene DOID:630 genetic disease ISO RGD:1605704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12026819 EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:0070271 Lynch syndrome 1 ISO RGD:1354333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868|PMID:36647049 12026819 EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1354333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29289645 12026819 EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1354333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12026819 EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:3883 Lynch syndrome ISO RGD:1354333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12026819 EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:583 hemolytic anemia ISO RGD:1354333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25411909 12026819 EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:630 genetic disease ISO RGD:1354333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12026819 EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:9002720 Splenomegaly ISO RGD:1354333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25411909 12026819 EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:9006620 Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome ISO RGD:1354333 D RGD:7240710 20200715 OMIM 12026819 EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:9006620 Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome ISO RGD:1354333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome PMID:25741868|PMID:32197074 12026819 EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1354333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25411909 12026819 EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:9009183 Hypomyelinating Leukodystrophy 17 ISO RGD:1354333 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 17 PMID:25741868 12026838 DMRTC2 DMRT like family C2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1345316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12026838 DMRTC2 DMRT like family C2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1345316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12026838 DMRTC2 DMRT like family C2 gene DOID:2340 craniosynostosis ISO RGD:1345316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12026838 DMRTC2 DMRT like family C2 gene DOID:5419 schizophrenia ISO RGD:1345316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12026838 DMRTC2 DMRT like family C2 gene DOID:630 genetic disease ISO RGD:1345316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12026838 DMRTC2 DMRT like family C2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1345316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12026838 DMRTC2 DMRT like family C2 gene DOID:9269 maple syrup urine disease ISO RGD:1345316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12026928 PCLAF PCNA clamp associated factor gene DOID:0110935 nemaline myopathy 6 ISO RGD:1353661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12026928 PCLAF PCNA clamp associated factor gene DOID:2717 Bloom syndrome ISO RGD:1353661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12026928 PCLAF PCNA clamp associated factor gene DOID:630 genetic disease ISO RGD:1353661 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12026928 PCLAF PCNA clamp associated factor gene DOID:684 hepatocellular carcinoma ISO RGD:1353661 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12026928 PCLAF PCNA clamp associated factor gene DOID:9256 colorectal cancer ISO RGD:1353661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12026938 PHKB phosphorylase kinase regulatory subunit beta gene DOID:0111041 glycogen storage disease IXb ISO RGD:1343205 D RGD:7240710 20180130 OMIM 12026938 PHKB phosphorylase kinase regulatory subunit beta gene DOID:0111041 glycogen storage disease IXb ISO RGD:1343205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:12825073|PMID:16199547|PMID:17576681|PMID:17689125|PMID:18950708|PMID:21646031|PMID:25070466|PMID:25640679|PMID:25741868|PMID:26526422|PMID:26913919|PMID:28492532|PMID:30919572|PMID:31508908|PMID:33782433|PMID:33858366|PMID:34093448|PMID:9215682|PMID:9326319|PMID:9402963|PMID:9536098 12026938 PHKB phosphorylase kinase regulatory subunit beta gene DOID:630 genetic disease ISO RGD:1343205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12026989 CNGA1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:730948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:24033266|PMID:24265693|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28981474|PMID:30718709|PMID:7479749 12026989 CNGA1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:0110377 retinitis pigmentosa 49 ISO RGD:730948 D RGD:7240710 20180130 OMIM 12026989 CNGA1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:0110377 retinitis pigmentosa 49 ISO RGD:730948 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 49 PMID:12362048|PMID:15570217|PMID:18310263|PMID:23462753|PMID:24033266|PMID:24154662|PMID:24265693|PMID:25268133|PMID:25326637|PMID:25356976|PMID:25611614|PMID:25741868|PMID:26306921|PMID:26496393|PMID:26802146|PMID:28041643|PMID:28492532|PMID:28981474|PMID:29785639|PMID:30337596|PMID:30543658|PMID:30652268|PMID:30718709|PMID:36115851|PMID:7479749 12026989 CNGA1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:10283 prostate cancer ISO RGD:730948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:28492532 12026989 CNGA1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:10584 retinitis pigmentosa ISO RGD:730948 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12362048|PMID:16199547|PMID:18310263|PMID:24033266|PMID:24154662|PMID:24265693|PMID:25268133|PMID:25326637|PMID:25356976|PMID:25611614|PMID:25741868|PMID:26306921|PMID:26496393|PMID:28041643|PMID:28492532|PMID:28981474|PMID:29785639|PMID:30337596|PMID:30718709|PMID:31456290|PMID:7479749 12026989 CNGA1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:10584 retinitis pigmentosa ISO RGD:730948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12362048|PMID:16199547|PMID:18310263|PMID:23462753|PMID:24033266|PMID:24154662|PMID:24265693|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25356976|PMID:25611614|PMID:25741868|PMID:26306921|PMID:26496393|PMID:28041643|PMID:28492532|PMID:28981474|PMID:29785639|PMID:30337596|PMID:30718709|PMID:31456290|PMID:32037395|PMID:33090715|PMID:33946315|PMID:7479749 12026989 CNGA1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:4448 macular degeneration ISO RGD:730948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:24033266|PMID:24265693|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28981474|PMID:30718709|PMID:7479749 12026989 CNGA1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:630 genetic disease ISO RGD:730948 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12026989 CNGA1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:8501 fundus dystrophy ISO RGD:730948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12362048|PMID:23462753|PMID:24033266|PMID:24154662|PMID:24265693|PMID:25268133|PMID:25326637|PMID:25611614|PMID:25741868|PMID:26306921|PMID:26496393|PMID:26802146|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28981474|PMID:30337596|PMID:30543658|PMID:30718709|PMID:32037395|PMID:7479749 12027019 KPNA1 karyopherin subunit alpha 1 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1347998 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12027019 KPNA1 karyopherin subunit alpha 1 gene DOID:5419 schizophrenia ISO RGD:1347998 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 12027019 KPNA1 karyopherin subunit alpha 1 gene DOID:630 genetic disease ISO RGD:1347998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027019 KPNA1 karyopherin subunit alpha 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 12027019 KPNA1 karyopherin subunit alpha 1 gene DOID:9270 alkaptonuria ISO RGD:1347998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12027045 TRIM44 tripartite motif containing 44 gene DOID:1059 intellectual disability ISO RGD:1312571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12027045 TRIM44 tripartite motif containing 44 gene DOID:12271 aniridia ISO RGD:1312571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12027045 TRIM44 tripartite motif containing 44 gene DOID:630 genetic disease ISO RGD:1312571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027045 TRIM44 tripartite motif containing 44 gene DOID:9001549 Aniridia 3 ISO RGD:1312571 D RGD:7240710 20190315 OMIM 12027045 TRIM44 tripartite motif containing 44 gene DOID:9001549 Aniridia 3 ISO RGD:1312571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aniridia 3 PMID:25741868|PMID:26394807 12027058 BPI bactericidal permeability increasing protein gene DOID:2234 focal epilepsy ISO RGD:1352137 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12027058 BPI bactericidal permeability increasing protein gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1352137 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 12027058 BPI bactericidal permeability increasing protein gene DOID:630 genetic disease ISO RGD:1352137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027058 BPI bactericidal permeability increasing protein gene DOID:8778 Crohn's disease ISO RGD:1352137 D RGD:9068941 20200609 RGD PMID:15758620|REF_RGD_ID:1580079 12027079 PTER phosphotriesterase related gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1352492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12027079 PTER phosphotriesterase related gene DOID:1909 melanoma ISO RGD:1352492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12027079 PTER phosphotriesterase related gene DOID:630 genetic disease ISO RGD:1352492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027079 PTER phosphotriesterase related gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12027079 PTER phosphotriesterase related gene DOID:9007188 Liver Neoplasms ISO RGD:1352492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 12027098 BOP1 BOP1 ribosomal biogenesis factor gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1321585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12027098 BOP1 BOP1 ribosomal biogenesis factor gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1321585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12027098 BOP1 BOP1 ribosomal biogenesis factor gene DOID:4621 holoprosencephaly ISO RGD:1321585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12027098 BOP1 BOP1 ribosomal biogenesis factor gene DOID:630 genetic disease ISO RGD:1321585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027098 BOP1 BOP1 ribosomal biogenesis factor gene DOID:9000217 Stomach Neoplasms ISO RGD:1321585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12027098 BOP1 BOP1 ribosomal biogenesis factor gene DOID:9000918 Disease Progression ISO RGD:1321585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12027117 OLFM1 olfactomedin 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:733478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 12027117 OLFM1 olfactomedin 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:733478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12027117 OLFM1 olfactomedin 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:733478 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12027117 OLFM1 olfactomedin 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:733478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12027117 OLFM1 olfactomedin 1 gene DOID:0081097 Rafiq syndrome ISO RGD:733478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12027117 OLFM1 olfactomedin 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 12027117 OLFM1 olfactomedin 1 gene DOID:3652 Leigh disease ISO RGD:733478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12027117 OLFM1 olfactomedin 1 gene DOID:630 genetic disease ISO RGD:733478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027117 OLFM1 olfactomedin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 12027117 OLFM1 olfactomedin 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:733478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:28492532|PMID:29907982 12027130 LGR4 leucine rich repeat containing G protein-coupled receptor 4 gene DOID:1059 intellectual disability ISO RGD:1605061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12027130 LGR4 leucine rich repeat containing G protein-coupled receptor 4 gene DOID:11476 osteoporosis ISO RGD:1605061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 17 PMID:23644456 12027130 LGR4 leucine rich repeat containing G protein-coupled receptor 4 gene DOID:11476 osteoporosis susceptibility ISO RGD:1605061 D RGD:7240710 20230517 OMIM 12027130 LGR4 leucine rich repeat containing G protein-coupled receptor 4 gene DOID:1686 glaucoma ISO RGD:1616653 D RGD:9068941 20220825 MouseDO 12027130 LGR4 leucine rich repeat containing G protein-coupled receptor 4 gene DOID:630 genetic disease ISO RGD:1605061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027130 LGR4 leucine rich repeat containing G protein-coupled receptor 4 gene DOID:9005231 Self-Limited Delayed Puberty ISO RGD:1605061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DELAYED PUBERTY, SELF-LIMITED PMID:32493844 12027130 LGR4 leucine rich repeat containing G protein-coupled receptor 4 gene DOID:9005231 Self-Limited Delayed Puberty susceptibility ISO RGD:1605061 D RGD:7240710 20230517 OMIM 12027151 PSORS1C2 psoriasis susceptibility 1 candidate 2 gene DOID:0050553 JMP syndrome ISO RGD:1349813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12027151 PSORS1C2 psoriasis susceptibility 1 candidate 2 gene DOID:11372 megacolon ISO RGD:1349813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12027151 PSORS1C2 psoriasis susceptibility 1 candidate 2 gene DOID:630 genetic disease ISO RGD:1349813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027151 PSORS1C2 psoriasis susceptibility 1 candidate 2 gene DOID:9538 multiple myeloma ISO RGD:1349813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23955597 12027170 EVC EvC ciliary complex subunit 1 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1342513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:10700162|PMID:10700184|PMID:14217223|PMID:17024374|PMID:17576681|PMID:19810119|PMID:23220543|PMID:25741868|PMID:28492532|PMID:29068549|PMID:31028937|PMID:9066272|PMID:9536098 12027170 EVC EvC ciliary complex subunit 1 gene DOID:0111571 Weyers acrofacial dysostosis ISO RGD:1342513 D RGD:7240710 20180130 OMIM 12027170 EVC EvC ciliary complex subunit 1 gene DOID:0111571 Weyers acrofacial dysostosis ISO RGD:1342513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acrofacial dysostosis of Weyers | ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS PMID:10700184|PMID:18947413|PMID:19810119|PMID:19876929|PMID:23220543|PMID:25741868|PMID:28492532|PMID:7635486 12027170 EVC EvC ciliary complex subunit 1 gene DOID:12712 nephronophthisis ISO RGD:1342513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 12027170 EVC EvC ciliary complex subunit 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1342513 D RGD:7240710 20180130 OMIM 12027170 EVC EvC ciliary complex subunit 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1342513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:10700162|PMID:10700184|PMID:14217223|PMID:16199547|PMID:17024374|PMID:17576681|PMID:18454448|PMID:18947413|PMID:19251731|PMID:19744229|PMID:19810119|PMID:19876929|PMID:20184732|PMID:22190900|PMID:23220543|PMID:23924873|PMID:24431330|PMID:25046119|PMID:25174843|PMID:25492405|PMID:25640679|PMID:25741868|PMID:26621368|PMID:26625674|PMID:26748586|PMID:27453244|PMID:28253570|PMID:28492532|PMID:28854412|PMID:29068549|PMID:29229899|PMID:29321360|PMID:30805457|PMID:31028937|PMID:31319225|PMID:31338997|PMID:32055034|PMID:7628126|PMID:7635486|PMID:9066272|PMID:9536098 12027170 EVC EvC ciliary complex subunit 1 gene DOID:1657 ventricular septal defect ISO RGD:1342513 D RGD:9068941 20220929 RGD DNA:SNP::c.1727G>A(human) PMID:29257216|REF_RGD_ID:155260289 12027170 EVC EvC ciliary complex subunit 1 gene DOID:630 genetic disease ISO RGD:1342513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12027170 EVC EvC ciliary complex subunit 1 gene DOID:6678 tooth and nail syndrome ISO RGD:1342513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:14630905|PMID:28492532|PMID:9742121 12027194 TMEM244 transmembrane protein 244 gene DOID:630 genetic disease ISO RGD:1606936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027204 ZNF781 zinc finger protein 781 gene DOID:630 genetic disease ISO RGD:1605270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027236 ITGA10 integrin subunit alpha 10 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1313014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 12027236 ITGA10 integrin subunit alpha 10 gene DOID:1540 parathyroid carcinoma ISO RGD:1313014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12027236 ITGA10 integrin subunit alpha 10 gene DOID:2256 osteochondrodysplasia ISO RGD:12262494 D RGD:9068941 20210604 OMIA Chondrodysplasia, disproportionate short-limbed PMID:24086591|PMID:7081383 12027236 ITGA10 integrin subunit alpha 10 gene DOID:5419 schizophrenia ISO RGD:1313014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12027236 ITGA10 integrin subunit alpha 10 gene DOID:630 genetic disease ISO RGD:1313014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027236 ITGA10 integrin subunit alpha 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12027270 SLC25A3 solute carrier family 25 member 3 gene DOID:630 genetic disease ISO RGD:732727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12027270 SLC25A3 solute carrier family 25 member 3 gene DOID:9006387 Mitochondrial Phosphate Carrier Deficiency ISO RGD:732727 D RGD:7240710 20180130 OMIM 12027270 SLC25A3 solute carrier family 25 member 3 gene DOID:9006387 Mitochondrial Phosphate Carrier Deficiency ISO RGD:732727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial phosphate carrier deficiency | ClinVar Annotator: match by term: NEONATAL HYPERTROPHIC CARDIOMYOPATHY, RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND LACTIC ACIDOSIS PMID:17273968|PMID:17576681|PMID:21763135|PMID:25681081|PMID:25741868|PMID:28492532|PMID:9536098 12027286 VN1R1 vomeronasal type-1 receptor 1 pseudogene gene DOID:630 genetic disease ISO RGD:1318565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027292 CHPF chondroitin polymerizing factor gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1603198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12027292 CHPF chondroitin polymerizing factor gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1603198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12027292 CHPF chondroitin polymerizing factor gene DOID:1148 polydactyly ISO RGD:1603198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 12027292 CHPF chondroitin polymerizing factor gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1603198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12027292 CHPF chondroitin polymerizing factor gene DOID:630 genetic disease ISO RGD:1603198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027292 CHPF chondroitin polymerizing factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12027300 PCGF6 polycomb group ring finger 6 gene DOID:630 genetic disease ISO RGD:1353848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027315 GLI2 GLI family zinc finger 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1606840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23867347 12027315 GLI2 GLI family zinc finger 2 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arteriovenous malformations of the brain PMID:25741868 12027315 GLI2 GLI family zinc finger 2 gene DOID:0070067 White-Sutton syndrome ISO RGD:1606840 D RGD:8554872 20220628 ClinVar ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome PMID:25741868 12027315 GLI2 GLI family zinc finger 2 gene DOID:0080016 spina bifida ISO RGD:1606840 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, brain PMID:26446020|REF_RGD_ID:12801432 12027315 GLI2 GLI family zinc finger 2 gene DOID:0080171 esophageal atresia/tracheoesophageal fistula ISO RGD:1309270 D RGD:9068941 20200609 RGD PMID:12947339|REF_RGD_ID:12801415 12027315 GLI2 GLI family zinc finger 2 gene DOID:0080328 Culler-Jones syndrome ISO RGD:1606840 D RGD:7240710 20180130 OMIM 12027315 GLI2 GLI family zinc finger 2 gene DOID:0080328 Culler-Jones syndrome ISO RGD:1606840 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Culler-Jones syndrome PMID:15994174|PMID:20685856|PMID:22967285|PMID:23408573|PMID:25741868|PMID:28492532|PMID:31292255|PMID:6726521 12027315 GLI2 GLI family zinc finger 2 gene DOID:0110873 holoprosencephaly 9 ISO RGD:1606840 D RGD:7240710 20180130 OMIM 12027315 GLI2 GLI family zinc finger 2 gene DOID:0110873 holoprosencephaly 9 ISO RGD:1606840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar cyst | ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES | ClinVar Annotator: match by term: Holoprosencephaly 9 PMID:10725236|PMID:14581620|PMID:15994174|PMID:16327884|PMID:17096318|PMID:1756909|PMID:17569090|PMID:17576681|PMID:19223936|PMID:20685056|PMID:20685856|PMID:21204792|PMID:21416594|PMID:22967285|PMID:22978696|PMID:23408573|PMID:24744436|PMID:25741868|PMID:26893459|PMID:28166811|PMID:28191889|PMID:28492532|PMID:29165578|PMID:29876959|PMID:30548673|PMID:34198905|PMID:9536098 12027315 GLI2 GLI family zinc finger 2 gene DOID:0110881 holoprosencephaly 1 ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 1 PMID:25741868|PMID:28492532 12027315 GLI2 GLI family zinc finger 2 gene DOID:0111428 essential tremor 1 ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hand tremor PMID:25741868 12027315 GLI2 GLI family zinc finger 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1606840 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:25741868|PMID:26893459|PMID:28492532 12027315 GLI2 GLI family zinc finger 2 gene DOID:1059 intellectual disability ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 12027315 GLI2 GLI family zinc finger 2 gene DOID:10907 microcephaly ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12027315 GLI2 GLI family zinc finger 2 gene DOID:11175 enophthalmos ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Enophthalmos PMID:25741868 12027315 GLI2 GLI family zinc finger 2 gene DOID:13608 biliary atresia disease_progression ISO RGD:1606840 D RGD:9068941 20200609 RGD PMID:25746691|REF_RGD_ID:12802349 12027315 GLI2 GLI family zinc finger 2 gene DOID:14679 VACTERL association ISO RGD:1319523 D RGD:9068941 20230105 RGD PMID:11172440|REF_RGD_ID:155791680 12027315 GLI2 GLI family zinc finger 2 gene DOID:1826 epilepsy ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12027315 GLI2 GLI family zinc finger 2 gene DOID:1923 disorder of sexual development ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 12027315 GLI2 GLI family zinc finger 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606840 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:26893459|PMID:28492532 12027315 GLI2 GLI family zinc finger 2 gene DOID:203 exostosis ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exostosis PMID:25741868 12027315 GLI2 GLI family zinc finger 2 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1606840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16936257 12027315 GLI2 GLI family zinc finger 2 gene DOID:2513 basal cell carcinoma ISO RGD:1606840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10700170 12027315 GLI2 GLI family zinc finger 2 gene DOID:4621 holoprosencephaly ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Microform holoprosencephaly 12027315 GLI2 GLI family zinc finger 2 gene DOID:630 genetic disease ISO RGD:1606840 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14581620|PMID:15994174|PMID:20685856|PMID:22967285|PMID:24744436|PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532|PMID:29165578 12027315 GLI2 GLI family zinc finger 2 gene DOID:9000495 Tremor ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:25741868 12027315 GLI2 GLI family zinc finger 2 gene DOID:9001471 Anorectal Malformations ISO RGD:1309270 D RGD:9068941 20230107 RGD mRNA:decreased expression:terminal rectum PMID:25213187|REF_RGD_ID:155791683 12027315 GLI2 GLI family zinc finger 2 gene DOID:9001471 Anorectal Malformations ISO RGD:1319523 D RGD:9068941 20200609 RGD PMID:11485934|REF_RGD_ID:12802352 12027315 GLI2 GLI family zinc finger 2 gene DOID:9001471 Anorectal Malformations ISO RGD:1606840 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:rectum PMID:20146882|REF_RGD_ID:12798571 12027315 GLI2 GLI family zinc finger 2 gene DOID:9002811 Facial Dysmorphism with Multiple Malformations ISO RGD:1606840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27585885 12027315 GLI2 GLI family zinc finger 2 gene DOID:9003133 Hypertelorism ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 12027315 GLI2 GLI family zinc finger 2 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 12027315 GLI2 GLI family zinc finger 2 gene DOID:9004464 Skin Neoplasms ISO RGD:1606840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10700170 12027315 GLI2 GLI family zinc finger 2 gene DOID:9006205 Animal Disease Models ISO RGD:1606840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27585885 12027315 GLI2 GLI family zinc finger 2 gene DOID:9006257 Growth Disorders ISO RGD:1606840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth Retardation 12027315 GLI2 GLI family zinc finger 2 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:31292255 12027315 GLI2 GLI family zinc finger 2 gene DOID:9008280 Holoprosencephaly 10 ISO RGD:1606840 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES PMID:25741868|PMID:28492532 12027315 GLI2 GLI family zinc finger 2 gene DOID:9008582 Developmental Disease ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12027315 GLI2 GLI family zinc finger 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12027362 ARSI arylsulfatase family member I gene DOID:0060041 autism spectrum disorder ISO RGD:1604953 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12027362 ARSI arylsulfatase family member I gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604953 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12027362 ARSI arylsulfatase family member I gene DOID:2476 hereditary spastic paraplegia ISO RGD:1604953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28492532|PMID:28832565 12027362 ARSI arylsulfatase family member I gene DOID:607 paraplegia ISO RGD:1604953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:28492532|PMID:28832565 12027362 ARSI arylsulfatase family member I gene DOID:630 genetic disease ISO RGD:1604953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12027362 ARSI arylsulfatase family member I gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604953 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12027368 ZFP36 ZFP36 ring finger protein gene DOID:0080600 COVID-19 ISO RGD:737182 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12027368 ZFP36 ZFP36 ring finger protein gene DOID:0080600 COVID-19 ISO RGD:737182 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12027368 ZFP36 ZFP36 ring finger protein gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:737182 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12027368 ZFP36 ZFP36 ring finger protein gene DOID:1612 breast cancer disease_progression ISO RGD:737182 D RGD:9068941 20220818 RGD mRNA:decreased expression:breast (human) PMID:32248342|REF_RGD_ID:153344515 12027368 ZFP36 ZFP36 ring finger protein gene DOID:2723 dermatitis ISO RGD:737182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15944294 12027368 ZFP36 ZFP36 ring finger protein gene DOID:630 genetic disease ISO RGD:737182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027368 ZFP36 ZFP36 ring finger protein gene DOID:684 hepatocellular carcinoma ISO RGD:737182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12027368 ZFP36 ZFP36 ring finger protein gene DOID:7148 rheumatoid arthritis ISO RGD:737183 D RGD:9068941 20220825 MouseDO OMIM:180300 12027368 ZFP36 ZFP36 ring finger protein gene DOID:848 arthritis ISO RGD:737182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15944294 12027368 ZFP36 ZFP36 ring finger protein gene DOID:9002221 Hyperplasia ISO RGD:737182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15944294 12027368 ZFP36 ZFP36 ring finger protein gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737182 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25556371 12027368 ZFP36 ZFP36 ring finger protein gene DOID:9005372 Inflammation ISO RGD:737182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12756304 12027368 ZFP36 ZFP36 ring finger protein gene DOID:9006827 Lung Reperfusion Injury exacerbates ISO RGD:737183 D RGD:9068941 20220915 RGD PMID:34238924|REF_RGD_ID:153350155 12027368 ZFP36 ZFP36 ring finger protein gene DOID:9007102 Myocardial Ischemia ISO RGD:737182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12027368 ZFP36 ZFP36 ring finger protein gene DOID:9007346 Cachexia ISO RGD:737182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12756304|PMID:15944294 12027368 ZFP36 ZFP36 ring finger protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:737182 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12027368 ZFP36 ZFP36 ring finger protein gene DOID:987 alopecia ISO RGD:737182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15944294 12027375 LIMK2 LIM domain kinase 2 gene DOID:630 genetic disease ISO RGD:733238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027375 LIMK2 LIM domain kinase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733238 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12027404 IQCB1 IQ motif containing B1 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1320759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia PMID:15723066|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:23188109|PMID:23559409|PMID:23847139|PMID:24033266|PMID:24625443|PMID:25741868|PMID:28041643|PMID:28492532 12027404 IQCB1 IQ motif containing B1 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1320759 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12027404 IQCB1 IQ motif containing B1 gene DOID:0110414 retinitis pigmentosa 3 severity ISO RGD:1352855 D RGD:9068941 20200609 RGD PMID:21857984|PMID:22183348|REF_RGD_ID:11352374|REF_RGD_ID:11537386 12027404 IQCB1 IQ motif containing B1 gene DOID:0111005 cone-rod dystrophy 2 ISO RGD:12366518 D RGD:9068941 20230504 OMIA Cone-rod dystrophy 2 PMID:15064680|PMID:22065099|PMID:24045995|PMID:27506978|PMID:30050836|PMID:33781914|PMID:34954206 12027404 IQCB1 IQ motif containing B1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320759 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:22261762|PMID:22773737|PMID:25741868|PMID:28492532|PMID:30718709 12027404 IQCB1 IQ motif containing B1 gene DOID:12712 nephronophthisis ISO RGD:1320759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15723066|PMID:17576681|PMID:18076122|PMID:19430481|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:22183348|PMID:22261762|PMID:22773737|PMID:23188109|PMID:23446637|PMID:23559409|PMID:23661368|PMID:23847139|PMID:24066033|PMID:24625443|PMID:24674142|PMID:25640679|PMID:25741868|PMID:25851290|PMID:26274329|PMID:26673778|PMID:26766544|PMID:27624628|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28832562|PMID:29053603|PMID:29068479|PMID:30718709|PMID:9536098 12027404 IQCB1 IQ motif containing B1 gene DOID:12712 nephronophthisis ISO RGD:1320759 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:15723066|PMID:17576681|PMID:18076122|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:22183348|PMID:22261762|PMID:22773737|PMID:23188109|PMID:23446637|PMID:23559409|PMID:23661368|PMID:23847139|PMID:24066033|PMID:24625443|PMID:25640679|PMID:25741868|PMID:26673778|PMID:26766544|PMID:27624628|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28832562|PMID:29053603|PMID:29068479|PMID:30718709|PMID:9536098 12027404 IQCB1 IQ motif containing B1 gene DOID:12712 nephronophthisis ISO RGD:1320759 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:15723066|PMID:17576681|PMID:18076122|PMID:19430481|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:22183348|PMID:22261762|PMID:22773737|PMID:23188109|PMID:23446637|PMID:23559409|PMID:23661368|PMID:23847139|PMID:24066033|PMID:24625443|PMID:25640679|PMID:25741868|PMID:26673778|PMID:26766544|PMID:27624628|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28832562|PMID:29053603|PMID:29068479|PMID:30718709|PMID:9536098 12027404 IQCB1 IQ motif containing B1 gene DOID:12712 nephronophthisis ISO RGD:1320759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15723066|PMID:16199547|PMID:17576681|PMID:18076122|PMID:19430481|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:22183348|PMID:22261762|PMID:22773737|PMID:23188109|PMID:23559409|PMID:23661368|PMID:23847139|PMID:24033266|PMID:24066033|PMID:24625443|PMID:24674142|PMID:25640679|PMID:25741868|PMID:25851290|PMID:26274329|PMID:26673778|PMID:26766544|PMID:27506978|PMID:27624628|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28832562|PMID:29053603|PMID:29068479|PMID:29186038|PMID:29219953|PMID:30718709|PMID:32531858|PMID:9536098 12027404 IQCB1 IQ motif containing B1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1320759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:15723066|PMID:20881296|PMID:21220633|PMID:21866095|PMID:21901789|PMID:23188109|PMID:23559409|PMID:24625443|PMID:25741868|PMID:27624628|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28832562 12027404 IQCB1 IQ motif containing B1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1320759 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532 12027404 IQCB1 IQ motif containing B1 gene DOID:630 genetic disease ISO RGD:1320759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12027404 IQCB1 IQ motif containing B1 gene DOID:8501 fundus dystrophy ISO RGD:1320759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15723066|PMID:18076122|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:23188109|PMID:23559409|PMID:23661368|PMID:23847139|PMID:24066033|PMID:24625443|PMID:25741868|PMID:25851290|PMID:26673778|PMID:28041643|PMID:28492532|PMID:28832562|PMID:29053603|PMID:29068479 12027404 IQCB1 IQ motif containing B1 gene DOID:9004221 Senior-Loken Syndrome 5 ISO RGD:1320759 D RGD:7240710 20180130 OMIM 12027404 IQCB1 IQ motif containing B1 gene DOID:9004221 Senior-Loken Syndrome 5 ISO RGD:1320759 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 5 PMID:15723066|PMID:17576681|PMID:18076122|PMID:19430481|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:22183348|PMID:22261762|PMID:22773737|PMID:23188109|PMID:23559409|PMID:23661368|PMID:23847139|PMID:24066033|PMID:24625443|PMID:24674142|PMID:25741868|PMID:26274329|PMID:26673778|PMID:26766544|PMID:27624628|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28832562|PMID:29053603|PMID:29068479|PMID:30718709|PMID:9536098 12027404 IQCB1 IQ motif containing B1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1320759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 12027404 IQCB1 IQ motif containing B1 gene DOID:9270 alkaptonuria ISO RGD:1320759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12027424 MCMBP minichromosome maintenance complex binding protein gene DOID:630 genetic disease ISO RGD:1315515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027448 CIAPIN1 cytokine induced apoptosis inhibitor 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346049 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12027448 CIAPIN1 cytokine induced apoptosis inhibitor 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346049 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12027448 CIAPIN1 cytokine induced apoptosis inhibitor 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1346049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12027448 CIAPIN1 cytokine induced apoptosis inhibitor 1 gene DOID:630 genetic disease ISO RGD:1346049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027467 ZNF526 zinc finger protein 526 gene DOID:0050888 syndromic intellectual disability ISO RGD:1602838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 12027467 ZNF526 zinc finger protein 526 gene DOID:1059 intellectual disability ISO RGD:1602838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12027467 ZNF526 zinc finger protein 526 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12027467 ZNF526 zinc finger protein 526 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1602838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12027467 ZNF526 zinc finger protein 526 gene DOID:2340 craniosynostosis ISO RGD:1602838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:23354439|PMID:26097063|PMID:28492532|PMID:28808027 12027467 ZNF526 zinc finger protein 526 gene DOID:5419 schizophrenia ISO RGD:1602838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12027467 ZNF526 zinc finger protein 526 gene DOID:630 genetic disease ISO RGD:1602838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12027467 ZNF526 zinc finger protein 526 gene DOID:6420 pulmonary valve stenosis ISO RGD:1602838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:25558065|PMID:25741868 12027467 ZNF526 zinc finger protein 526 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1602838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12027467 ZNF526 zinc finger protein 526 gene DOID:9002634 DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME ISO RGD:1602838 D RGD:7240710 20220615 OMIM 12027467 ZNF526 zinc finger protein 526 gene DOID:9002634 DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME ISO RGD:1602838 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dentici-Novelli neurodevelopmental syndrome PMID:25558065|PMID:25741868|PMID:33397746 12027467 ZNF526 zinc finger protein 526 gene DOID:9003816 Macrocephaly ISO RGD:1602838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly 12027467 ZNF526 zinc finger protein 526 gene DOID:9269 maple syrup urine disease ISO RGD:1602838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:0050852 limb ischemia ameliorates ISO RGD:1320241 D RGD:9068941 20221117 RGD PMID:35301145|REF_RGD_ID:155663375 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:0050852 limb ischemia ameliorates ISO RGD:1320242 D RGD:9068941 20221111 RGD PMID:22252294|REF_RGD_ID:155663358 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:0050852 limb ischemia exacerbates ISO RGD:1320242 D RGD:9068941 20221104 RGD PMID:20508179|REF_RGD_ID:155641249 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:0060227 Adams-Oliver syndrome ISO RGD:1320241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome PMID:26299364|PMID:29924900 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:0080322 polycystic kidney disease treatment ISO RGD:1309740 D RGD:9068941 20221217 RGD PMID:32685025|REF_RGD_ID:155791442 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:13025 retinopathy of prematurity treatment ISO RGD:1309740 D RGD:9068941 20221117 RGD PMID:30652694|REF_RGD_ID:155663485 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:1612 breast cancer disease_progression ISO RGD:1320241 D RGD:9068941 20221110 RGD PMID:20167860|REF_RGD_ID:155641260 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:1936 atherosclerosis ameliorates ISO RGD:1320242 D RGD:9068941 20221103 RGD PMID:22699504|REF_RGD_ID:155641244 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:1936 atherosclerosis treatment ISO RGD:1320242 D RGD:9068941 20221117 RGD PMID:30909142|REF_RGD_ID:155663380 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:224 transient cerebral ischemia ameliorates ISO RGD:1320242 D RGD:9068941 20221111 RGD PMID:31927543|REF_RGD_ID:155663354 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:224 transient cerebral ischemia disease_progression ISO RGD:1309740 D RGD:9068941 20221117 RGD PMID:30653356|REF_RGD_ID:155663383 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:224 transient cerebral ischemia treatment ISO RGD:1309740 D RGD:9068941 20221117 RGD PMID:30258350|REF_RGD_ID:155663419 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:264 hemangiopericytoma ISO RGD:1320241 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:anterior temporal lobe PMID:26951238|REF_RGD_ID:155663351 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:2717 Bloom syndrome ISO RGD:1320241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:3021 acute kidney failure ameliorates ISO RGD:1320242 D RGD:9068941 20221117 RGD PMID:19828677|REF_RGD_ID:155663373 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:3070 high grade glioma ameliorates ISO RGD:1320242 D RGD:9068941 20221217 RGD PMID:17183313|REF_RGD_ID:155791441 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:326 ischemia ISO RGD:1309740 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:skin,endothelial cells PMID:25834117|REF_RGD_ID:155663350 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:326 ischemia ameliorates ISO RGD:1320242 D RGD:9068941 20221111 RGD PMID:22252294|REF_RGD_ID:155663358 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:3910 lung adenocarcinoma treatment ISO RGD:1309740 D RGD:9068941 20221117 RGD PMID:33628824|REF_RGD_ID:155663482 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:4450 renal cell carcinoma treatment ISO RGD:1320241 D RGD:9068941 20221117 RGD PMID:25618828|REF_RGD_ID:155663382 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:4556 lung large cell carcinoma treatment ISO RGD:1309740 D RGD:9068941 20221117 RGD PMID:33628824|REF_RGD_ID:155663482 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:5241 hemangioblastoma ISO RGD:1320241 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:temporal lobe : PMID:27388534|REF_RGD_ID:155641257 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:5409 lung small cell carcinoma treatment ISO RGD:1309740 D RGD:9068941 20221117 RGD PMID:33628824|REF_RGD_ID:155663482 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:630 genetic disease ISO RGD:1320241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:6406 double outlet right ventricle susceptibility ISO RGD:1320242 D RGD:9068941 20221117 RGD PMID:34859965|REF_RGD_ID:155663381 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:6432 pulmonary hypertension ISO RGD:1320242 D RGD:9068941 20221110 RGD PMID:34739767|REF_RGD_ID:155646132 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:799 varicose veins ISO RGD:1320241 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:vein: PMID:26808710|REF_RGD_ID:11529441 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:8947 diabetic retinopathy ISO RGD:1320242 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:retina: PMID:30787185|REF_RGD_ID:155663348 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:8947 diabetic retinopathy severity ISO RGD:1320241 D RGD:9068941 20221111 RGD PMID:34362349|REF_RGD_ID:155663356 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:1320242 D RGD:9068941 20221103 RGD protein:increased expression:aorta PMID:22699504|REF_RGD_ID:155641244 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:9000713 Surgical Wound treatment ISO RGD:1309740 D RGD:9068941 20221110 RGD associated with type 1 diabetes mellitus; PMID:34256844|REF_RGD_ID:155641256 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:9000970 Focal Nodular Hyperplasia ISO RGD:1320241 D RGD:9068941 20221110 RGD mRNA:decreased expression:liver PMID:23870033|REF_RGD_ID:155646133 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:1309740 D RGD:9068941 20221201 RGD PMID:21063852|REF_RGD_ID:12859045 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:9001919 Vascular Neoplasms ISO RGD:1309740 D RGD:9068941 20221110 RGD PMID:20147986|REF_RGD_ID:155641259 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ameliorates ISO RGD:1320242 D RGD:9068941 20221201 RGD PMID:21813770|REF_RGD_ID:155663662 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:1309740 D RGD:9068941 20221201 RGD PMID:26670826|REF_RGD_ID:155663663 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:9003191 Vascular Malformations ISO RGD:1320241 D RGD:9068941 20221111 RGD protein:increased expression:intestine: PMID:24219762|REF_RGD_ID:155663361 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:9003191 Vascular Malformations ISO RGD:1320241 D RGD:9068941 20221111 RGD protein:increased expression:serum: PMID:21955427|REF_RGD_ID:155663363 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1320242 D RGD:9068941 20221111 RGD PMID:23188126|REF_RGD_ID:155663352 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:9004397 calcification of aortic valve ameliorates ISO RGD:1320242 D RGD:9068941 20221103 RGD PMID:22699504|REF_RGD_ID:155641244 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:9005333 Adams-Oliver Syndrome 6 ISO RGD:1320241 D RGD:7240710 20180130 OMIM 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:9005333 Adams-Oliver Syndrome 6 ISO RGD:1320241 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 6 PMID:25741868|PMID:26299364|PMID:28492532|PMID:29924900|PMID:32860008|PMID:616589 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:9005647 Experimental Autoimmune Uveitis disease_progression ISO RGD:1309740 D RGD:9068941 20221222 RGD PMID:31209505|REF_RGD_ID:155791448 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:9006151 Choroidal Neovascularization, Experimental treatment ISO RGD:1309740 D RGD:9068941 20221117 RGD PMID:21526177|REF_RGD_ID:155663484 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:1309740 D RGD:9068941 20221104 RGD PMID:32089723|REF_RGD_ID:155641250 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:9007730 Burns treatment ISO RGD:1309740 D RGD:9068941 20221117 RGD PMID:28319529|REF_RGD_ID:155663481 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:9008022 Temporomandibular Joint Osteoarthritis disease_progression ISO RGD:1309740 D RGD:9068941 20221217 RGD PMID:28147322|REF_RGD_ID:155791443 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1320241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:9256 colorectal cancer ISO RGD:1320241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:9351 diabetes mellitus ISO RGD:1309740 D RGD:9068941 20221110 RGD protein:increased expression:skin: PMID:30886104|REF_RGD_ID:155646129 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:9351 diabetes mellitus ISO RGD:1320242 D RGD:9068941 20221110 RGD protein:increased expression:skin: PMID:30886104|REF_RGD_ID:155646129 12027488 DLL4 delta like canonical Notch ligand 4 gene DOID:9351 diabetes mellitus ameliorates ISO RGD:1320242 D RGD:9068941 20221111 RGD PMID:29386132|REF_RGD_ID:155663360 12027503 DDX27 DEAD-box helicase 27 gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:1313779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 PMID:28492532 12027503 DDX27 DEAD-box helicase 27 gene DOID:630 genetic disease ISO RGD:1313779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027544 SDK2 sidekick cell adhesion molecule 2 gene DOID:630 genetic disease ISO RGD:1321280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027594 LOC100985521 serine peptidase inhibitor Kazal type 6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1351307 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12027594 LOC100985521 serine peptidase inhibitor Kazal type 6 gene DOID:630 genetic disease ISO RGD:1351307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027594 LOC100985521 serine peptidase inhibitor Kazal type 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12027594 LOC100985521 serine peptidase inhibitor Kazal type 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1351307 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12027606 HNRNPA1L2 heterogeneous nuclear ribonucleoprotein A1 like 2 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1605285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12027606 HNRNPA1L2 heterogeneous nuclear ribonucleoprotein A1 like 2 gene DOID:1059 intellectual disability ISO RGD:1605285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12027606 HNRNPA1L2 heterogeneous nuclear ribonucleoprotein A1 like 2 gene DOID:630 genetic disease ISO RGD:1605285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027617 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:0050880 Koolen de Vries syndrome ISO RGD:734061 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Koolen-de Vries syndrome PMID:18628315|PMID:21094706|PMID:28492532 12027617 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:1059 intellectual disability ISO RGD:734061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12027617 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:10763 hypertension ISO RGD:61276 D RGD:9068941 20200609 RGD corticotropin releasing hormone-induced PMID:11036160|REF_RGD_ID:1581302 12027617 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:12918 thromboangiitis obliterans ISO RGD:61276 D RGD:9068941 20200609 RGD mRNA:increased expression:femoral artery (rat) PMID:19572944|REF_RGD_ID:5508315 12027617 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:1470 major depressive disorder ISO RGD:734061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23529111 12027617 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:1574 alcohol use disorder ISO RGD:737026 D RGD:9068941 20200609 RGD PMID:11988580|REF_RGD_ID:734822 12027617 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:1596 depressive disorder ISO RGD:61276 D RGD:9068941 20200609 RGD PMID:20860876|REF_RGD_ID:5147490 12027617 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:2030 anxiety disorder ISO RGD:734061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22231481|PMID:9299637 12027617 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:2773 contact dermatitis ISO RGD:734061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12631246 12027617 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:2841 asthma ISO RGD:734061 D RGD:9068941 20200609 RGD DNA:SNP: :RS242941 (human) PMID:19663668|REF_RGD_ID:5147485 12027617 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:2841 asthma ISO RGD:734061 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1876828, rs242939, rs242941 (human) PMID:16113459|REF_RGD_ID:5147488 12027617 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:734061 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs242941) (human) PMID:19210659|REF_RGD_ID:11097322 12027617 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:3877 functional colonic disease ISO RGD:61276 D RGD:9068941 20200609 RGD PMID:20096320|REF_RGD_ID:5130948 12027617 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:4483 rhinitis ISO RGD:734061 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:nasal cavity epithelium PMID:17597629|REF_RGD_ID:5130940 12027617 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:630 genetic disease ISO RGD:734061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027617 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:9001109 Anorexia ISO RGD:734061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16420149 12027617 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:737026 D RGD:9068941 20200609 RGD PMID:21774994|REF_RGD_ID:5147472 12027617 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:734061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28434951 12027617 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:9002362 Hyperkinesis ISO RGD:734061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19339610 12027617 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:9002457 Experimental Arthritis ISO RGD:61276 D RGD:9068941 20200609 RGD PMID:17550594|REF_RGD_ID:1626231 12027617 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:9003971 Postoperative Pain ISO RGD:734061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28434951 12027617 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:61276 D RGD:9068941 20200609 RGD mRNA:increased expression:anterior pituitary (rat) PMID:12576179|REF_RGD_ID:5508175 12027617 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:734061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19339610 12027617 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:734061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30664745 12027617 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:9007877 Fetal Hypoxia ISO RGD:61276 D RGD:9068941 20200609 RGD protein:increased expression:paraventricular nucleus of hypothalamus (rat) PMID:19409200|REF_RGD_ID:5491006 12027617 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:734061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 12027617 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:9255 frontotemporal dementia ISO RGD:734061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:18628315|PMID:21094706|PMID:28492532 12027617 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:61276 D RGD:9068941 20200609 RGD mRNA:decreased expression:hypothalamus (rat) PMID:20472052|REF_RGD_ID:5507823 12027617 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:9778 irritable bowel syndrome ISO RGD:61276 D RGD:9068941 20200609 RGD protein:increased expression:distal colon (rat) PMID:20096320|REF_RGD_ID:5130948 12027617 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:9970 obesity ISO RGD:734061 D RGD:9068941 20200609 RGD DNA:SNP:CDS:861C>T (human) PMID:14724656|REF_RGD_ID:1626226 12027645 SH2D7 SH2 domain containing 7 gene DOID:2717 Bloom syndrome ISO RGD:2923266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12027645 SH2D7 SH2 domain containing 7 gene DOID:630 genetic disease ISO RGD:2923266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027645 SH2D7 SH2 domain containing 7 gene DOID:9256 colorectal cancer ISO RGD:2923266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12027655 PPIL2 peptidylprolyl isomerase like 2 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1319848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 12027655 PPIL2 peptidylprolyl isomerase like 2 gene DOID:11198 DiGeorge syndrome ISO RGD:1319848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 12027655 PPIL2 peptidylprolyl isomerase like 2 gene DOID:630 genetic disease ISO RGD:1319848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027684 GAP43 growth associated protein 43 gene DOID:11832 visual epilepsy ISO RGD:62071 D RGD:9068941 20200609 RGD PMID:11054811|REF_RGD_ID:9685329 12027684 GAP43 growth associated protein 43 gene DOID:1824 status epilepticus ISO RGD:730980 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10366005 12027684 GAP43 growth associated protein 43 gene DOID:630 genetic disease ISO RGD:730980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027684 GAP43 growth associated protein 43 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:62071 D RGD:9068941 20210122 RGD PMID:24968269|REF_RGD_ID:40924652 12027684 GAP43 growth associated protein 43 gene DOID:9002928 Colonic Neoplasms ISO RGD:730980 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12027702 AMFR autocrine motility factor receptor gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1323068 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12027702 AMFR autocrine motility factor receptor gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1323068 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12027702 AMFR autocrine motility factor receptor gene DOID:10652 Alzheimer's disease ISO RGD:1323068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22313999 12027702 AMFR autocrine motility factor receptor gene DOID:11054 urinary bladder cancer ISO RGD:1323068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9241080 12027702 AMFR autocrine motility factor receptor gene DOID:13938 amenorrhea ISO RGD:1323068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12027702 AMFR autocrine motility factor receptor gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1323068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12027702 AMFR autocrine motility factor receptor gene DOID:3007 breast ductal carcinoma ISO RGD:1323068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12027702 AMFR autocrine motility factor receptor gene DOID:630 genetic disease ISO RGD:1323068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027702 AMFR autocrine motility factor receptor gene DOID:9000918 Disease Progression ISO RGD:1323068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9241080 12027702 AMFR autocrine motility factor receptor gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1323068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12027730 ZNF619 zinc finger protein 619 gene DOID:630 genetic disease ISO RGD:1343654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027758 C19H19orf81 chromosome 19 C19orf81 homolog gene DOID:630 genetic disease ISO RGD:5489342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027767 PSMC4 proteasome 26S subunit, ATPase 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:731556 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12027767 PSMC4 proteasome 26S subunit, ATPase 4 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:731556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12027767 PSMC4 proteasome 26S subunit, ATPase 4 gene DOID:1342 congenital hypoplastic anemia ISO RGD:731556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12027767 PSMC4 proteasome 26S subunit, ATPase 4 gene DOID:2340 craniosynostosis ISO RGD:731556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12027767 PSMC4 proteasome 26S subunit, ATPase 4 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731557 D RGD:9068941 20220825 MouseDO 12027767 PSMC4 proteasome 26S subunit, ATPase 4 gene DOID:630 genetic disease ISO RGD:731556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027767 PSMC4 proteasome 26S subunit, ATPase 4 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:731556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12027767 PSMC4 proteasome 26S subunit, ATPase 4 gene DOID:9269 maple syrup urine disease ISO RGD:731556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12027767 PSMC4 proteasome 26S subunit, ATPase 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731556 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12027782 CLP1 cleavage factor polyribonucleotide kinase subunit 1 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1602724 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia 12027782 CLP1 cleavage factor polyribonucleotide kinase subunit 1 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1602724 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia 12027782 CLP1 cleavage factor polyribonucleotide kinase subunit 1 gene DOID:0060279 pontocerebellar hypoplasia type 10 ISO RGD:1602724 D RGD:7240710 20180130 OMIM 12027782 CLP1 cleavage factor polyribonucleotide kinase subunit 1 gene DOID:0060279 pontocerebellar hypoplasia type 10 ISO RGD:1602724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 10 PMID:24766809|PMID:24766810|PMID:25741868|PMID:29307788 12027782 CLP1 cleavage factor polyribonucleotide kinase subunit 1 gene DOID:1059 intellectual disability ISO RGD:1602724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12027782 CLP1 cleavage factor polyribonucleotide kinase subunit 1 gene DOID:630 genetic disease ISO RGD:1602724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12027782 CLP1 cleavage factor polyribonucleotide kinase subunit 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12027790 FNDC7 fibronectin type III domain containing 7 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1604516 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12027790 FNDC7 fibronectin type III domain containing 7 gene DOID:12849 autistic disorder ISO RGD:1604516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12027790 FNDC7 fibronectin type III domain containing 7 gene DOID:630 genetic disease ISO RGD:1604516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027806 SUN1 Sad1 and UNC84 domain containing 1 gene DOID:0060224 atrial fibrillation ISO RGD:1343381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12027806 SUN1 Sad1 and UNC84 domain containing 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:16199547|PMID:28492532 12027806 SUN1 Sad1 and UNC84 domain containing 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:16199547|PMID:17576681|PMID:28492532|PMID:9536098 12027806 SUN1 Sad1 and UNC84 domain containing 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy severity ISO RGD:1550518 D RGD:9068941 20200609 RGD PMID:22541428|REF_RGD_ID:10044242 12027806 SUN1 Sad1 and UNC84 domain containing 1 gene DOID:3911 progeria severity ISO RGD:1550518 D RGD:9068941 20200609 RGD PMID:22541428|REF_RGD_ID:10044242 12027806 SUN1 Sad1 and UNC84 domain containing 1 gene DOID:630 genetic disease ISO RGD:1343381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12027845 DCD dermcidin gene DOID:630 genetic disease ISO RGD:1349389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027845 DCD dermcidin gene DOID:9007188 Liver Neoplasms ISO RGD:1349389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20195826 12027860 PRSS3 serine protease 3 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:734183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12027860 PRSS3 serine protease 3 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:734183 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12027860 PRSS3 serine protease 3 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:734183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12027860 PRSS3 serine protease 3 gene DOID:11054 urinary bladder cancer ISO RGD:734183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15987713 12027860 PRSS3 serine protease 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:734183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12027860 PRSS3 serine protease 3 gene DOID:9870 galactosemia ISO RGD:734183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12027873 CENPO centromere protein O gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1603956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 12027873 CENPO centromere protein O gene DOID:630 genetic disease ISO RGD:1603956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027873 CENPO centromere protein O gene DOID:9970 obesity ISO RGD:1603956 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 PMID:25741868|PMID:29311637 12027919 ACTR3C actin related protein 3C gene DOID:630 genetic disease ISO RGD:2923209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027930 LOC100967430 leucine-rich repeat-containing protein 51 gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1602965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 12027930 LOC100967430 leucine-rich repeat-containing protein 51 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1602965 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12027930 LOC100967430 leucine-rich repeat-containing protein 51 gene DOID:0110515 autosomal recessive nonsyndromic deafness 63 ISO RGD:1602965 D RGD:7240710 20180130 OMIM 12027930 LOC100967430 leucine-rich repeat-containing protein 51 gene DOID:0110515 autosomal recessive nonsyndromic deafness 63 ISO RGD:1602965 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 63 PMID:17211611|PMID:18794526|PMID:18953341|PMID:21739586|PMID:22908982|PMID:23053991|PMID:24033266|PMID:25741868|PMID:25788562|PMID:26467025|PMID:28492532|PMID:32747562 12027930 LOC100967430 leucine-rich repeat-containing protein 51 gene DOID:1059 intellectual disability ISO RGD:1602965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12027930 LOC100967430 leucine-rich repeat-containing protein 51 gene DOID:630 genetic disease ISO RGD:1602965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 12027930 LOC100967430 leucine-rich repeat-containing protein 51 gene DOID:9004538 Hearing Loss ISO RGD:1602965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:25741868|PMID:26467025|PMID:27260575|PMID:28492532|PMID:30311386 12027960 CLEC12A C-type lectin domain family 12 member A gene DOID:0080600 COVID-19 ISO RGD:1605851 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12027960 CLEC12A C-type lectin domain family 12 member A gene DOID:12155 lymphocytic choriomeningitis disease_progression ISO RGD:1615680 D RGD:9068941 20210226 RGD PMID:31451663|REF_RGD_ID:41412202 12027960 CLEC12A C-type lectin domain family 12 member A gene DOID:14069 cerebral malaria ameliorates ISO RGD:1615680 D RGD:9068941 20210226 RGD PMID:31269448|REF_RGD_ID:41412201 12027960 CLEC12A C-type lectin domain family 12 member A gene DOID:630 genetic disease ISO RGD:1605851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027960 CLEC12A C-type lectin domain family 12 member A gene DOID:7148 rheumatoid arthritis ISO RGD:1605851 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 12027971 CDKAL1 CDK5 regulatory subunit associated protein 1 like 1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1321035 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:17460697|PMID:17463246|PMID:17463248|PMID:17463249|PMID:24760768 12027971 CDKAL1 CDK5 regulatory subunit associated protein 1 like 1 gene DOID:11714 gestational diabetes ISO RGD:1321035 D RGD:9068941 20200609 RGD DNA:snp: :rs7756992,rs7754840(human) PMID:19002430|REF_RGD_ID:2313946 12027971 CDKAL1 CDK5 regulatory subunit associated protein 1 like 1 gene DOID:13677 SAPHO syndrome ISO RGD:1321035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27936930 12027971 CDKAL1 CDK5 regulatory subunit associated protein 1 like 1 gene DOID:630 genetic disease ISO RGD:1321035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027971 CDKAL1 CDK5 regulatory subunit associated protein 1 like 1 gene DOID:9003996 Birth Weight ISO RGD:1321035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23202124 12027971 CDKAL1 CDK5 regulatory subunit associated protein 1 like 1 gene DOID:9007633 Body Weight ISO RGD:1321035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344219|PMID:22344221 12027971 CDKAL1 CDK5 regulatory subunit associated protein 1 like 1 gene DOID:9351 diabetes mellitus ISO RGD:1321035 D RGD:9068941 20200609 RGD DNA:snp: :rs10946398(human) PMID:19741467|REF_RGD_ID:2313940 12027971 CDKAL1 CDK5 regulatory subunit associated protein 1 like 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1321035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:17460697|PMID:17463246|PMID:17463248|PMID:17463249|PMID:24760768 12027971 CDKAL1 CDK5 regulatory subunit associated protein 1 like 1 gene DOID:9970 obesity ISO RGD:1321035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity 12027991 GLO1 glyoxalase I gene DOID:12849 autistic disorder ISO RGD:1350387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 1 PMID:15386471|PMID:17722011|PMID:18721844 12027991 GLO1 glyoxalase I gene DOID:12849 autistic disorder resistance ISO RGD:1350387 D RGD:9068941 20200609 RGD DNA:SNP: :419C>A (human) PMID:17346350|REF_RGD_ID:7242568 12027991 GLO1 glyoxalase I gene DOID:1596 depressive disorder ISO RGD:1350387 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22113448 12027991 GLO1 glyoxalase I gene DOID:178 vascular disease ISO RGD:1350387 D RGD:9068941 20200609 RGD DNA:SNP: :419C>A (human) PMID:18079478|REF_RGD_ID:7242571 12027991 GLO1 glyoxalase I gene DOID:1909 melanoma ISO RGD:1350387 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20093988 12027991 GLO1 glyoxalase I gene DOID:2030 anxiety disorder ISO RGD:1350387 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22113448 12027991 GLO1 glyoxalase I gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1350387 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12027991 GLO1 glyoxalase I gene DOID:630 genetic disease ISO RGD:1350387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12027991 GLO1 glyoxalase I gene DOID:783 end stage renal disease severity ISO RGD:1350387 D RGD:9068941 20200609 RGD DNA:SNP: :419C>A (human) PMID:20185929|REF_RGD_ID:7242570 12027991 GLO1 glyoxalase I gene DOID:8947 diabetic retinopathy ISO RGD:1350387 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-7C>T (human) PMID:21738003|REF_RGD_ID:7242569 12027991 GLO1 glyoxalase I gene DOID:9002165 Diabetic Nephropathies ISO RGD:1350387 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-7C>T (human) PMID:21738003|REF_RGD_ID:7242569 12027991 GLO1 glyoxalase I gene DOID:9002661 Diabetes Complications no_association ISO RGD:1350387 D RGD:9068941 20200609 RGD DNA:SNP: :419C>A (human) PMID:21738003|REF_RGD_ID:7242569 12027991 GLO1 glyoxalase I gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1350387 D RGD:9068941 20200609 RGD PMID:19211689|REF_RGD_ID:7242566 12027991 GLO1 glyoxalase I gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2702 D RGD:9068941 20200609 RGD PMID:19211689|REF_RGD_ID:7242566 12027991 GLO1 glyoxalase I gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350387 D RGD:9068941 20200609 RGD DNA:point mutation: :c.332A>C (human) PMID:18413187|REF_RGD_ID:7242567 12028001 LOC100971133 olfactory receptor 4D5 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1343066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12028001 LOC100971133 olfactory receptor 4D5 gene DOID:5419 schizophrenia ISO RGD:1343066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12028001 LOC100971133 olfactory receptor 4D5 gene DOID:630 genetic disease ISO RGD:1343066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028001 LOC100971133 olfactory receptor 4D5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1343066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12028001 LOC100971133 olfactory receptor 4D5 gene DOID:9007661 Dwarfism ISO RGD:1343066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12028006 GSDMA gasdermin A gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1347779 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 12028006 GSDMA gasdermin A gene DOID:630 genetic disease ISO RGD:1347779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028021 CPZ carboxypeptidase Z gene DOID:630 genetic disease ISO RGD:731300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028021 CPZ carboxypeptidase Z gene DOID:9007661 Dwarfism ISO RGD:731300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12028047 SLC46A2 solute carrier family 46 member 2 gene DOID:630 genetic disease ISO RGD:1321413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028055 FATE1 fetal and adult testis expressed 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12028055 FATE1 fetal and adult testis expressed 1 gene DOID:12849 autistic disorder ISO RGD:1353364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12028055 FATE1 fetal and adult testis expressed 1 gene DOID:630 genetic disease ISO RGD:1353364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028055 FATE1 fetal and adult testis expressed 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1353364 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15580283 12028065 ME1 malic enzyme 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:736133 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 12028065 ME1 malic enzyme 1 gene DOID:0080600 COVID-19 ISO RGD:736133 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12028065 ME1 malic enzyme 1 gene DOID:0111953 immunodeficiency 23 ISO RGD:736133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 23 PMID:24931394 12028065 ME1 malic enzyme 1 gene DOID:630 genetic disease ISO RGD:736133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028065 ME1 malic enzyme 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 12028065 ME1 malic enzyme 1 gene DOID:9004657 Weight Gain ISO RGD:736133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12028065 ME1 malic enzyme 1 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3074 D RGD:9068941 20220224 RGD mRNA:increased expression:right ventricle PMID:23794090|REF_RGD_ID:151361111 12028065 ME1 malic enzyme 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12028065 ME1 malic enzyme 1 gene DOID:9970 obesity ISO RGD:736133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270708 12028084 TMEM144 transmembrane protein 144 gene DOID:630 genetic disease ISO RGD:1605072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028107 ATP1B1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:10003 sensorineural hearing loss ISO RGD:2170 D RGD:9068941 20200609 RGD protein:decreased expression:cochlea: PMID:23827367|REF_RGD_ID:7349365 12028107 ATP1B1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:10825 essential hypertension ISO RGD:735774 D RGD:7240710 20180130 OMIM 12028107 ATP1B1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:1540 parathyroid carcinoma ISO RGD:735774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12028107 ATP1B1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:303 substance-related disorder ISO RGD:735774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12028107 ATP1B1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:630 genetic disease ISO RGD:735774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028107 ATP1B1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:735774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 12028107 ATP1B1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:735774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12028107 ATP1B1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:9008086 Developmental Disabilities ISO RGD:735774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12028107 ATP1B1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:9119 acute myeloid leukemia ISO RGD:735774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12028107 ATP1B1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12028123 ZNF165 zinc finger protein 165 gene DOID:11372 megacolon ISO RGD:1342847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12028123 ZNF165 zinc finger protein 165 gene DOID:630 genetic disease ISO RGD:1342847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028137 DOK2 docking protein 2 gene DOID:3069 malignant astrocytoma disease_progression ISO RGD:1322166 D RGD:9068941 20220512 RGD mRNA,protein:increased expression, increased phosphorylation:astrocytoma (human) PMID:27975172|REF_RGD_ID:152177494 12028137 DOK2 docking protein 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1322166 D RGD:9068941 20220519 RGD mRNA:decreased expression:lung (human) PMID:20139980|REF_RGD_ID:152177521 12028137 DOK2 docking protein 2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1322167 D RGD:9068941 20220519 RGD PMID:20139980|REF_RGD_ID:152177521 12028137 DOK2 docking protein 2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1332569 D RGD:9068941 20220512 RGD PMID:30475228|REF_RGD_ID:152177492 12028137 DOK2 docking protein 2 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1322167 D RGD:9068941 20220512 RGD PMID:24255704|REF_RGD_ID:152177493 12028137 DOK2 docking protein 2 gene DOID:630 genetic disease ISO RGD:1322166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028137 DOK2 docking protein 2 gene DOID:8778 Crohn's disease ISO RGD:1322166 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 12028137 DOK2 docking protein 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1322166 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20139980 12028146 IL17RC interleukin 17 receptor C gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1314983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 12028146 IL17RC interleukin 17 receptor C gene DOID:2843 long QT syndrome ISO RGD:1314983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12028146 IL17RC interleukin 17 receptor C gene DOID:630 genetic disease ISO RGD:1314983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12028146 IL17RC interleukin 17 receptor C gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:1306392 D RGD:9068941 20220331 RGD PMID:30346985|REF_RGD_ID:151665755 12028146 IL17RC interleukin 17 receptor C gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314983 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17603628 12028146 IL17RC interleukin 17 receptor C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12028146 IL17RC interleukin 17 receptor C gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1314983 D RGD:7240710 20180130 OMIM 12028146 IL17RC interleukin 17 receptor C gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1314983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:16199547|PMID:17576681|PMID:25741868|PMID:25918342|PMID:28492532|PMID:9536098 12028146 IL17RC interleukin 17 receptor C gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1314983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12028200 SHQ1 SHQ1, H/ACA ribonucleoprotein assembly factor gene DOID:630 genetic disease ISO RGD:1345880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028200 SHQ1 SHQ1, H/ACA ribonucleoprotein assembly factor gene DOID:9003692 NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES ISO RGD:1345880 D RGD:7240710 20221214 OMIM 12028200 SHQ1 SHQ1, H/ACA ribonucleoprotein assembly factor gene DOID:9003692 NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES ISO RGD:1345880 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dystonia and seizures PMID:34542157 12028200 SHQ1 SHQ1, H/ACA ribonucleoprotein assembly factor gene DOID:9007245 Dystonia 35, Childhood-Onset ISO RGD:1345880 D RGD:7240710 20220629 OMIM 12028200 SHQ1 SHQ1, H/ACA ribonucleoprotein assembly factor gene DOID:9007245 Dystonia 35, Childhood-Onset ISO RGD:1345880 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Dystonia 35, childhood-onset PMID:34542157 12028218 MDFIC MyoD family inhibitor domain containing gene DOID:0081030 central conducting lymphatic anomaly ISO RGD:1553252 D RGD:9068941 20220825 MouseDO OMIM:617300 12028218 MDFIC MyoD family inhibitor domain containing gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1607030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12028218 MDFIC MyoD family inhibitor domain containing gene DOID:630 genetic disease ISO RGD:1607030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028218 MDFIC MyoD family inhibitor domain containing gene DOID:9002507 Lymphatic Malformation 12 ISO RGD:1607030 D RGD:7240710 20220831 OMIM 12028218 MDFIC MyoD family inhibitor domain containing gene DOID:9002507 Lymphatic Malformation 12 ISO RGD:1607030 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 12 PMID:35235341 12028227 CFAP65 cilia and flagella associated protein 65 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1606123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12028227 CFAP65 cilia and flagella associated protein 65 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1606123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12028227 CFAP65 cilia and flagella associated protein 65 gene DOID:0111918 spermatogenic failure 40 ISO RGD:1606123 D RGD:7240710 20191211 OMIM 12028227 CFAP65 cilia and flagella associated protein 65 gene DOID:0111918 spermatogenic failure 40 ISO RGD:1606123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 40 PMID:25741868|PMID:28552195|PMID:31413122|PMID:31501240|PMID:31571197 12028227 CFAP65 cilia and flagella associated protein 65 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1606123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12028227 CFAP65 cilia and flagella associated protein 65 gene DOID:10283 prostate cancer ISO RGD:1606123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12028227 CFAP65 cilia and flagella associated protein 65 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1606123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12028227 CFAP65 cilia and flagella associated protein 65 gene DOID:5419 schizophrenia ISO RGD:1606123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12028227 CFAP65 cilia and flagella associated protein 65 gene DOID:630 genetic disease ISO RGD:1606123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028227 CFAP65 cilia and flagella associated protein 65 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12028290 MRPS16 mitochondrial ribosomal protein S16 gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1321233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 12028290 MRPS16 mitochondrial ribosomal protein S16 gene DOID:0111483 combined oxidative phosphorylation deficiency 2 ISO RGD:1321233 D RGD:7240710 20180130 OMIM 12028290 MRPS16 mitochondrial ribosomal protein S16 gene DOID:0111483 combined oxidative phosphorylation deficiency 2 ISO RGD:1321233 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 2 PMID:15505824|PMID:18539099|PMID:25741868|PMID:28492532|PMID:28749478 12028290 MRPS16 mitochondrial ribosomal protein S16 gene DOID:630 genetic disease ISO RGD:1321233 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12028307 GNB4 G protein subunit beta 4 gene DOID:0060224 atrial fibrillation ISO RGD:1348614 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12028307 GNB4 G protein subunit beta 4 gene DOID:0110206 Charcot-Marie-Tooth disease dominant intermediate F ISO RGD:1348614 D RGD:7240710 20180130 OMIM 12028307 GNB4 G protein subunit beta 4 gene DOID:0110206 Charcot-Marie-Tooth disease dominant intermediate F ISO RGD:1348614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate F PMID:16199547|PMID:17576681|PMID:23434117|PMID:25741868|PMID:27549087|PMID:27908631|PMID:28166811|PMID:28492532|PMID:28642160|PMID:31211173|PMID:34071515|PMID:9536098 12028307 GNB4 G protein subunit beta 4 gene DOID:0111546 Currarino syndrome ISO RGD:1348614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12028307 GNB4 G protein subunit beta 4 gene DOID:1389 polyneuropathy ISO RGD:1348614 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:25741868 12028307 GNB4 G protein subunit beta 4 gene DOID:630 genetic disease ISO RGD:1348614 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12028307 GNB4 G protein subunit beta 4 gene DOID:6457 Cowden syndrome ISO RGD:1348614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cowden syndrome PMID:28492532 12028307 GNB4 G protein subunit beta 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1348614 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 12028351 ERRFI1 ERBB receptor feedback inhibitor 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604617 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12028351 ERRFI1 ERBB receptor feedback inhibitor 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1604617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12028351 ERRFI1 ERBB receptor feedback inhibitor 1 gene DOID:1380 endometrial cancer ISO RGD:1332254 D RGD:9068941 20220825 MouseDO OMIM:608089 12028351 ERRFI1 ERBB receptor feedback inhibitor 1 gene DOID:289 endometriosis ISO RGD:1604617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12028351 ERRFI1 ERBB receptor feedback inhibitor 1 gene DOID:630 genetic disease ISO RGD:1604617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028351 ERRFI1 ERBB receptor feedback inhibitor 1 gene DOID:8398 osteoarthritis ISO RGD:1332254 D RGD:9068941 20220825 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 12028351 ERRFI1 ERBB receptor feedback inhibitor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1307599 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA:increased expression:kidney: PMID:10749885|REF_RGD_ID:9685546 12028351 ERRFI1 ERBB receptor feedback inhibitor 1 gene DOID:9003936 Cardiomegaly ISO RGD:1332254 D RGD:9068941 20200609 RGD protein:increased expression:heart: PMID:19204184|REF_RGD_ID:9685562 12028351 ERRFI1 ERBB receptor feedback inhibitor 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1307599 D RGD:9068941 20200609 RGD PMID:19204184|REF_RGD_ID:9685562 12028351 ERRFI1 ERBB receptor feedback inhibitor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12028351 ERRFI1 ERBB receptor feedback inhibitor 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1604617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28688920 12028359 LRIG1 leucine rich repeats and immunoglobulin like domains 1 gene DOID:0060224 atrial fibrillation ISO RGD:1315602 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12028359 LRIG1 leucine rich repeats and immunoglobulin like domains 1 gene DOID:630 genetic disease ISO RGD:1315602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028383 UPK2 uroplakin 2 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1353269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12028383 UPK2 uroplakin 2 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1353269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12028383 UPK2 uroplakin 2 gene DOID:0080690 RASopathy ISO RGD:1353269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12028383 UPK2 uroplakin 2 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1353269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12028383 UPK2 uroplakin 2 gene DOID:0110651 long QT syndrome 10 ISO RGD:1353269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12028383 UPK2 uroplakin 2 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1353269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12028383 UPK2 uroplakin 2 gene DOID:0111971 immunodeficiency 18 ISO RGD:1353269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12028383 UPK2 uroplakin 2 gene DOID:0111972 immunodeficiency 19 ISO RGD:1353269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12028383 UPK2 uroplakin 2 gene DOID:0111973 immunodeficiency 17 ISO RGD:1353269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12028383 UPK2 uroplakin 2 gene DOID:630 genetic disease ISO RGD:1353269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028383 UPK2 uroplakin 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1353269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12028383 UPK2 uroplakin 2 gene DOID:9007661 Dwarfism ISO RGD:1353269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12028392 METAP1D methionyl aminopeptidase type 1D, mitochondrial gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1605558 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12028392 METAP1D methionyl aminopeptidase type 1D, mitochondrial gene DOID:630 genetic disease ISO RGD:1605558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028410 CADPS calcium dependent secretion activator gene DOID:10283 prostate cancer ISO RGD:1344966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12028410 CADPS calcium dependent secretion activator gene DOID:630 genetic disease ISO RGD:1344966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028471 STIL STIL centriolar assembly protein gene DOID:0070278 primary autosomal recessive microcephaly 7 ISO RGD:1312720 D RGD:7240710 20180130 OMIM 12028471 STIL STIL centriolar assembly protein gene DOID:0070278 primary autosomal recessive microcephaly 7 ISO RGD:1312720 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microcephaly 7, primary, autosomal recessive PMID:18414213|PMID:19215732|PMID:20301772|PMID:22989186|PMID:23772360|PMID:24986681|PMID:25218063|PMID:25741868|PMID:26467025|PMID:26539891|PMID:26548919|PMID:26633542|PMID:28492532|PMID:33132204 12028471 STIL STIL centriolar assembly protein gene DOID:0080600 COVID-19 ISO RGD:1312720 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12028471 STIL STIL centriolar assembly protein gene DOID:1059 intellectual disability ISO RGD:1312720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12028471 STIL STIL centriolar assembly protein gene DOID:10907 microcephaly ISO RGD:1312720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary Microcephaly, Recessive 12028471 STIL STIL centriolar assembly protein gene DOID:11367 congenital aphakia ISO RGD:1312720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital primary aphakia PMID:28492532 12028471 STIL STIL centriolar assembly protein gene DOID:2661 myoepithelioma ISO RGD:1312720 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12028471 STIL STIL centriolar assembly protein gene DOID:630 genetic disease ISO RGD:1312720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:23772360|PMID:25741868|PMID:26467025|PMID:26539891|PMID:28492532 12028504 LRRC55 leucine rich repeat containing 55 gene DOID:1059 intellectual disability ISO RGD:1603880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12028504 LRRC55 leucine rich repeat containing 55 gene DOID:630 genetic disease ISO RGD:1603880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028515 MAP3K21 mitogen-activated protein kinase kinase kinase 21 gene DOID:1540 parathyroid carcinoma ISO RGD:1601734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12028515 MAP3K21 mitogen-activated protein kinase kinase kinase 21 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12028529 ADGRB2 adhesion G protein-coupled receptor B2 gene DOID:0080600 COVID-19 ISO RGD:1319770 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12028529 ADGRB2 adhesion G protein-coupled receptor B2 gene DOID:630 genetic disease ISO RGD:1319770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12028529 ADGRB2 adhesion G protein-coupled receptor B2 gene DOID:9002598 Spastic Paraparesis ISO RGD:1319770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive spastic paraparesis PMID:28891236 12028577 HCST hematopoietic cell signal transducer gene DOID:0110222 Brugada syndrome 5 ISO RGD:1350033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12028577 HCST hematopoietic cell signal transducer gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1350033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12028577 HCST hematopoietic cell signal transducer gene DOID:630 genetic disease ISO RGD:1350033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028596 PLAAT5 phospholipase A and acyltransferase 5 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12028596 PLAAT5 phospholipase A and acyltransferase 5 gene DOID:1059 intellectual disability ISO RGD:1606473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12028596 PLAAT5 phospholipase A and acyltransferase 5 gene DOID:630 genetic disease ISO RGD:1606473 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028615 TXLNG taxilin gamma gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12028615 TXLNG taxilin gamma gene DOID:12849 autistic disorder ISO RGD:1347306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12028615 TXLNG taxilin gamma gene DOID:630 genetic disease ISO RGD:1347306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028615 TXLNG taxilin gamma gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12028629 ZAR1L zygote arrest 1 like gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:2311474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28492532|PMID:29766361|PMID:31843900 12028629 ZAR1L zygote arrest 1 like gene DOID:630 genetic disease ISO RGD:2311474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028638 MAD2L2 mitotic arrest deficient 2 like 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1316729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12028638 MAD2L2 mitotic arrest deficient 2 like 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1316729 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12028638 MAD2L2 mitotic arrest deficient 2 like 2 gene DOID:0111080 Fanconi anemia complementation group V ISO RGD:1316729 D RGD:7240710 20190315 OMIM 12028638 MAD2L2 mitotic arrest deficient 2 like 2 gene DOID:0111080 Fanconi anemia complementation group V ISO RGD:1316729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group V PMID:27500492 12028638 MAD2L2 mitotic arrest deficient 2 like 2 gene DOID:630 genetic disease ISO RGD:1316729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028638 MAD2L2 mitotic arrest deficient 2 like 2 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1316729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 12028656 GCK glucokinase gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:735697 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10426385|PMID:10525657|PMID:10694920|PMID:10753050|PMID:11508276|PMID:12442280|PMID:12627330|PMID:12955723|PMID:14517946|PMID:14578306|PMID:1464666|PMID:1502186|PMID:15277402|PMID:15305805|PMID:16602010|PMID:16731834|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17389332|PMID:17573900|PMID:18271687|PMID:18414213|PMID:18481947|PMID:19002431|PMID:19790256|PMID:19903754|PMID:20337973|PMID:21348868|PMID:21518409|PMID:21521320|PMID:21831042|PMID:21921030|PMID:22028181|PMID:22335469|PMID:22389783|PMID:22493702|PMID:22540858|PMID:22611063|PMID:22761713|PMID:22820548|PMID:23433541|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24568320|PMID:24578721|PMID:24918535|PMID:25015100|PMID:25306193|PMID:25414397|PMID:25525159|PMID:25555642|PMID:25741868|PMID:26467025|PMID:27080136|PMID:27167055|PMID:27269892|PMID:27935851|PMID:28012402|PMID:28492532|PMID:28842611|PMID:29284910|PMID:29510678|PMID:30086370|PMID:30257192|PMID:30592380|PMID:31197960|PMID:31957151|PMID:32074423|PMID:32375122|PMID:33072637|PMID:33129248|PMID:7553875|PMID:8068341|PMID:8168652|PMID:8446612|PMID:9049484|PMID:9867845 12028656 GCK glucokinase gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:735697 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10694920|PMID:10753050|PMID:10754480|PMID:11315851|PMID:11372010|PMID:11508276|PMID:11553210|PMID:11772903|PMID:11942313|PMID:12442280|PMID:12627330|PMID:12955723|PMID:1354782|PMID:1360036|PMID:1397713|PMID:14517946|PMID:14517956|PMID:14578306|PMID:1464666|PMID:1502186|PMID:15102714|PMID:15277402|PMID:15305805|PMID:15448103|PMID:15667334|PMID:15752705|PMID:15788789|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16059790|PMID:16444761|PMID:16602010|PMID:16632067|PMID:16731834|PMID:16963153|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17204055|PMID:17389332|PMID:17573900|PMID:17937063|PMID:18056790|PMID:18248649|PMID:18271687|PMID:18298419|PMID:18322640|PMID:18382660|PMID:18399931|PMID:18411240|PMID:18414213|PMID:18481947|PMID:19002431|PMID:19069349|PMID:19187021|PMID:19228875|PMID:19309449|PMID:19339519|PMID:19358091|PMID:19410318|PMID:19551638|PMID:19564454|PMID:19790256|PMID:19903754|PMID:20132997|PMID:20301620|PMID:20337973|PMID:20458967|PMID:21104275|PMID:21348868|PMID:21395678|PMID:21437567|PMID:21518409|PMID:21521320|PMID:21569204|PMID:21720051|PMID:21831042|PMID:21921030|PMID:21978167|PMID:22028181|PMID:22035297|PMID:22060211|PMID:22101819|PMID:22291974|PMID:22298776|PMID:22335469|PMID:22341299|PMID:22389783|PMID:22493702|PMID:22540858|PMID:22611063|PMID:22761713|PMID:22820548|PMID:23009393|PMID:23085272|PMID:23295292|PMID:23352578|PMID:23433541|PMID:23506826|PMID:23771172|PMID:23771925|PMID:23957911|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24430320|PMID:24568320|PMID:24578721|PMID:24677712|PMID:24728127|PMID:24735133|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25082184|PMID:25174781|PMID:25203462|PMID:25306193|PMID:25414397|PMID:25494859|PMID:25525159|PMID:25555642|PMID:25741868|PMID:25755231|PMID:25850297|PMID:26123671|PMID:26467025|PMID:26552609|PMID:26587058|PMID:27080136|PMID:27106716|PMID:27167055|PMID:27256595|PMID:27256596|PMID:27269892|PMID:27935851|PMID:28012402|PMID:28170077|PMID:28323911|PMID:28371533|PMID:28492532|PMID:28512030|PMID:28726111|PMID:28842611|PMID:29056535|PMID:29207974|PMID:29284910|PMID:29417725|PMID:29424410|PMID:29510678|PMID:29777474|PMID:29927023|PMID:29944009|PMID:30086370|PMID:30155490|PMID:30191644|PMID:30245511|PMID:30257192|PMID:30259503|PMID:30447144|PMID:30590153|PMID:30592380|PMID:30663027|PMID:31197960|PMID:31216263|PMID:31638168|PMID:31704690|PMID:31957151|PMID:32074423|PMID:32375122|PMID:33072637|PMID:33129248|PMID:33477506|PMID:34373539|PMID:34440516|PMID:34746319|PMID:35592779|PMID:36257325|PMID:7553875|PMID:7555485|PMID:7619052|PMID:8068341|PMID:8094163|PMID:8094164|PMID:8132752|PMID:8168652|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8454109|PMID:8897004|PMID:9000695|PMID:9049484|PMID:9075802|PMID:9078243|PMID:9435328|PMID:9662401|PMID:9867845 12028656 GCK glucokinase gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:735697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10694920|PMID:10753050|PMID:10754480|PMID:10868935|PMID:11315851|PMID:11372010|PMID:11393552|PMID:11508276|PMID:11553210|PMID:11772903|PMID:11942313|PMID:12442280|PMID:12627330|PMID:12955723|PMID:1354782|PMID:1360036|PMID:1397713|PMID:14517946|PMID:14517956|PMID:14578306|PMID:1464666|PMID:1502186|PMID:15102714|PMID:15277402|PMID:15305805|PMID:15448103|PMID:15667334|PMID:15752705|PMID:15788789|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16059790|PMID:16199547|PMID:16444761|PMID:16602010|PMID:16632067|PMID:16731834|PMID:16963153|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17204055|PMID:17389332|PMID:17573900|PMID:17576681|PMID:17937063|PMID:18056790|PMID:18248649|PMID:18271687|PMID:18298419|PMID:18322640|PMID:18382660|PMID:18399931|PMID:18411240|PMID:18414213|PMID:18481947|PMID:19002431|PMID:19069349|PMID:19187021|PMID:19228875|PMID:19309449|PMID:19339519|PMID:19358091|PMID:19410318|PMID:19551638|PMID:19564454|PMID:19790256|PMID:19903754|PMID:20132997|PMID:20301620|PMID:20337973|PMID:20458967|PMID:21104275|PMID:21348868|PMID:21395678|PMID:21420961|PMID:21437567|PMID:21518409|PMID:21521320|PMID:21569204|PMID:21720051|PMID:21831042|PMID:21921030|PMID:21978167|PMID:22028181|PMID:22035297|PMID:22060211|PMID:22101819|PMID:22291974|PMID:22298776|PMID:22335469|PMID:22341299|PMID:22389783|PMID:22493702|PMID:22540858|PMID:22611063|PMID:22761713|PMID:22773699|PMID:22808921|PMID:22820548|PMID:23009393|PMID:23085272|PMID:23295292|PMID:23352578|PMID:23433541|PMID:23506826|PMID:23771172|PMID:23771925|PMID:23957911|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24430320|PMID:24568320|PMID:24578721|PMID:24677712|PMID:24728127|PMID:24735133|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25082184|PMID:25174781|PMID:25203462|PMID:25306193|PMID:25414397|PMID:25494859|PMID:25525159|PMID:25555642|PMID:25741868|PMID:25755231|PMID:25850297|PMID:25935773|PMID:26123671|PMID:26208450|PMID:26226118|PMID:26467025|PMID:26552609|PMID:26587058|PMID:26669242|PMID:27059371|PMID:27080136|PMID:27106716|PMID:27256595|PMID:27256596|PMID:27269892|PMID:27935851|PMID:28012402|PMID:28170077|PMID:28323911|PMID:28371533|PMID:28492532|PMID:28512030|PMID:28663157|PMID:28726111|PMID:28842611|PMID:29056535|PMID:29207974|PMID:29284910|PMID:29329106|PMID:29417725|PMID:29424410|PMID:29510678|PMID:29777474|PMID:29927023|PMID:29944009|PMID:30086370|PMID:30155490|PMID:30191644|PMID:30245511|PMID:30257192|PMID:30259503|PMID:30447144|PMID:30590153|PMID:30592380|PMID:30608898|PMID:30656436|PMID:30663027|PMID:31063852|PMID:31197960|PMID:31216263|PMID:31264968|PMID:31576961|PMID:31638168|PMID:31704690|PMID:31957151|PMID:32041611|PMID:32074423|PMID:32375122|PMID:32533152|PMID:32741144|PMID:33046911|PMID:33072637|PMID:33129248|PMID:33242514|PMID:33324081|PMID:33477506|PMID:33565752|PMID:34108472|PMID:34373539|PMID:34393998|PMID:34440516|PMID:34532767|PMID:34746319|PMID:34789499|PMID:35592779|PMID:36257325|PMID:7553875|PMID:7555485|PMID:7619052|PMID:8068341|PMID:8094163|PMID:8094164|PMID:8132752|PMID:8168652|PMID:8325892|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8454109|PMID:8897004|PMID:9000695|PMID:9049484|PMID:9075802|PMID:9078243|PMID:9435328|PMID:9536098|PMID:9662401|PMID:9867845 12028656 GCK glucokinase gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:735697 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10694920|PMID:10753050|PMID:10754480|PMID:10868935|PMID:11106831|PMID:11315851|PMID:11372010|PMID:11393552|PMID:11508276|PMID:11553210|PMID:11772903|PMID:11942313|PMID:12442280|PMID:12627330|PMID:12955723|PMID:1354782|PMID:1360036|PMID:1397713|PMID:14517946|PMID:14517956|PMID:14578306|PMID:1464666|PMID:1502186|PMID:15102714|PMID:15277402|PMID:15305805|PMID:15448103|PMID:15667334|PMID:15752705|PMID:15788789|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16059790|PMID:16199547|PMID:16444761|PMID:16602010|PMID:16632067|PMID:16731834|PMID:16963153|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17204055|PMID:17389332|PMID:17573900|PMID:17576681|PMID:17937063|PMID:18056790|PMID:18248649|PMID:18271687|PMID:18298419|PMID:18322640|PMID:18382660|PMID:18399931|PMID:18411240|PMID:18414213|PMID:18481947|PMID:19002431|PMID:19069349|PMID:19187021|PMID:19228875|PMID:19309449|PMID:19339519|PMID:19358091|PMID:19410318|PMID:19551638|PMID:19564454|PMID:19790256|PMID:19903754|PMID:20132997|PMID:20301620|PMID:20337973|PMID:20458967|PMID:21104275|PMID:21348868|PMID:21395678|PMID:21420961|PMID:21437567|PMID:21518409|PMID:21521320|PMID:21569204|PMID:21720051|PMID:21831042|PMID:21921030|PMID:21978167|PMID:22028181|PMID:22035297|PMID:22060211|PMID:22101819|PMID:22291974|PMID:22298776|PMID:22335469|PMID:22341299|PMID:22389783|PMID:22493702|PMID:22540858|PMID:22611063|PMID:22761713|PMID:22773699|PMID:22808921|PMID:22820548|PMID:23009393|PMID:23085272|PMID:23295292|PMID:23352578|PMID:23433541|PMID:23506826|PMID:23771172|PMID:23771925|PMID:23957911|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24430320|PMID:24549415|PMID:24568320|PMID:24578721|PMID:24677712|PMID:24728127|PMID:24735133|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25082184|PMID:25174781|PMID:25203462|PMID:25306193|PMID:25414397|PMID:25494859|PMID:25525159|PMID:25555642|PMID:25741868|PMID:25755231|PMID:25850297|PMID:25935773|PMID:26123671|PMID:26208450|PMID:26226118|PMID:26467025|PMID:26552609|PMID:26587058|PMID:26669242|PMID:27059371|PMID:27080136|PMID:27106716|PMID:27256595|PMID:27256596|PMID:27269892|PMID:27935851|PMID:28012402|PMID:28170077|PMID:28323911|PMID:28371533|PMID:28492532|PMID:28512030|PMID:28663157|PMID:28726111|PMID:28842611|PMID:29056535|PMID:29207974|PMID:29284910|PMID:29329106|PMID:29417725|PMID:29424410|PMID:29510678|PMID:29777474|PMID:29927023|PMID:29944009|PMID:30086370|PMID:30155490|PMID:30191644|PMID:30245511|PMID:30257192|PMID:30259503|PMID:30386132|PMID:30447144|PMID:30590153|PMID:30592380|PMID:30608898|PMID:30656436|PMID:30663027|PMID:30977832|PMID:31063852|PMID:31197960|PMID:31216263|PMID:31264968|PMID:31576961|PMID:31638168|PMID:31704690|PMID:31957151|PMID:32041611|PMID:32074423|PMID:32375122|PMID:32533152|PMID:32741144|PMID:33046911|PMID:33072637|PMID:33129248|PMID:33242514|PMID:33324081|PMID:33477506|PMID:33565752|PMID:34108472|PMID:34373539|PMID:34393998|PMID:34440516|PMID:34532767|PMID:34662886|PMID:34746319|PMID:34789499|PMID:35176401|PMID:35592779|PMID:35737141|PMID:36208030|PMID:36257325|PMID:36400171|PMID:7553875|PMID:7555485|PMID:7619052|PMID:8068341|PMID:8094163|PMID:8094164|PMID:8132752|PMID:8168652|PMID:8325892|PMID:8349034|PMID:8376578|PMID:8433729|PMID:8446612|PMID:8454109|PMID:8897004|PMID:9000695|PMID:9049484|PMID:9075802|PMID:9078243|PMID:9435328|PMID:9536098|PMID:9662401|PMID:9867845 12028656 GCK glucokinase gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:735697 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:10447526|PMID:11315850|PMID:11315851|PMID:11942313|PMID:12442280|PMID:12627330|PMID:14517946|PMID:14517956|PMID:15305805|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16963153|PMID:16965331|PMID:17573900|PMID:17576681|PMID:18271687|PMID:19790256|PMID:20132997|PMID:21604084|PMID:22493702|PMID:22611063|PMID:24097065|PMID:24518839|PMID:24578721|PMID:24728127|PMID:25015100|PMID:25741868|PMID:25850297|PMID:26467025|PMID:27269892|PMID:28492532|PMID:29510678|PMID:30257192|PMID:31197960|PMID:32375122|PMID:33072637|PMID:33129248|PMID:7555485|PMID:8068341|PMID:8349034|PMID:8433729|PMID:8454109|PMID:9536098 12028656 GCK glucokinase gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:735697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:10447526|PMID:11315850|PMID:11315851|PMID:11942313|PMID:12442280|PMID:12627330|PMID:14517946|PMID:14517956|PMID:15305805|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16963153|PMID:16965331|PMID:17573900|PMID:17576681|PMID:18271687|PMID:19790256|PMID:20132997|PMID:21604084|PMID:22493702|PMID:22611063|PMID:24097065|PMID:24518839|PMID:24578721|PMID:24728127|PMID:25015100|PMID:25741868|PMID:25850297|PMID:26467025|PMID:27269892|PMID:27913849|PMID:28492532|PMID:29510678|PMID:30257192|PMID:31197960|PMID:32375122|PMID:33072637|PMID:33129248|PMID:7555485|PMID:8068341|PMID:8349034|PMID:8433729|PMID:8454109|PMID:9536098 12028656 GCK glucokinase gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:735697 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Permanent diabetes mellitus of infancy | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:10426385|PMID:10447526|PMID:10525657|PMID:10754480|PMID:11315850|PMID:11315851|PMID:11372010|PMID:11508276|PMID:11942313|PMID:12442280|PMID:12627330|PMID:14517946|PMID:14517956|PMID:15102714|PMID:15305805|PMID:15644838|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16602010|PMID:16731834|PMID:16963153|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17573900|PMID:17576681|PMID:18056790|PMID:18271687|PMID:18382660|PMID:18397317|PMID:18399931|PMID:18414213|PMID:19790256|PMID:19884385|PMID:20132997|PMID:20337973|PMID:21395678|PMID:21437567|PMID:21604084|PMID:22291974|PMID:22335469|PMID:22389783|PMID:22493702|PMID:22611063|PMID:23624530|PMID:23771172|PMID:23778137|PMID:24033266|PMID:24097065|PMID:24518839|PMID:24578721|PMID:24728127|PMID:25015100|PMID:25082184|PMID:25306193|PMID:25414397|PMID:25494859|PMID:25555642|PMID:25741868|PMID:25850297|PMID:26123671|PMID:26467025|PMID:27080136|PMID:27188453|PMID:27634015|PMID:27913849|PMID:28247534|PMID:28323911|PMID:28492532|PMID:28726111|PMID:29510678|PMID:31957151|PMID:33072637|PMID:7555485|PMID:8068341|PMID:8132752|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8454109|PMID:9049484|PMID:9536098 12028656 GCK glucokinase gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:735697 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Permanent diabetes mellitus of infancy | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:10426385|PMID:10447526|PMID:10525657|PMID:10754480|PMID:11315850|PMID:11315851|PMID:11372010|PMID:11508276|PMID:11942313|PMID:12442280|PMID:12627330|PMID:14517946|PMID:14517956|PMID:14578306|PMID:15102714|PMID:15305805|PMID:15644838|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16602010|PMID:16731834|PMID:16963153|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17573900|PMID:17576681|PMID:18056790|PMID:18271687|PMID:18397317|PMID:18399931|PMID:18414213|PMID:19790256|PMID:19884385|PMID:20132997|PMID:20301620|PMID:20337973|PMID:21395678|PMID:21437567|PMID:21604084|PMID:21720051|PMID:22291974|PMID:22335469|PMID:22389783|PMID:22493702|PMID:22611063|PMID:22761713|PMID:23624530|PMID:23771172|PMID:23778137|PMID:24033266|PMID:24097065|PMID:24518839|PMID:24578721|PMID:24728127|PMID:25015100|PMID:25082184|PMID:25306193|PMID:25414397|PMID:25494859|PMID:25555642|PMID:25741868|PMID:25850297|PMID:26123671|PMID:26467025|PMID:27080136|PMID:27188453|PMID:27269892|PMID:27634015|PMID:27913849|PMID:28247534|PMID:28323911|PMID:28492532|PMID:28726111|PMID:29510678|PMID:30257192|PMID:31197960|PMID:31957151|PMID:32375122|PMID:33072637|PMID:33129248|PMID:36257325|PMID:7555485|PMID:8068341|PMID:8132752|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8454109|PMID:9049484|PMID:9536098 12028656 GCK glucokinase gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:735697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:10447526|PMID:10525657|PMID:10754480|PMID:11315850|PMID:11315851|PMID:11372010|PMID:11508276|PMID:11942313|PMID:12442280|PMID:12627330|PMID:14517946|PMID:14517956|PMID:14578306|PMID:15102714|PMID:15305805|PMID:15644838|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16731834|PMID:16963153|PMID:16965331|PMID:17186219|PMID:17573900|PMID:17576681|PMID:18056790|PMID:18271687|PMID:18397317|PMID:18399931|PMID:19790256|PMID:19884385|PMID:20132997|PMID:20301620|PMID:20337973|PMID:21395678|PMID:21437567|PMID:21604084|PMID:21720051|PMID:21831042|PMID:22291974|PMID:22493702|PMID:22611063|PMID:22761713|PMID:23624530|PMID:23771172|PMID:23778137|PMID:24097065|PMID:24518839|PMID:24578721|PMID:24728127|PMID:25015100|PMID:25082184|PMID:25306193|PMID:25494859|PMID:25555642|PMID:25741868|PMID:25850297|PMID:26123671|PMID:26467025|PMID:27188453|PMID:27269892|PMID:27634015|PMID:27913849|PMID:28247534|PMID:28323911|PMID:28331372|PMID:28492532|PMID:28726111|PMID:29510678|PMID:30191644|PMID:30257192|PMID:31197960|PMID:31216263|PMID:31957151|PMID:32375122|PMID:33072637|PMID:33129248|PMID:36257325|PMID:7555485|PMID:8068341|PMID:8132752|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8454109|PMID:9536098 12028656 GCK glucokinase gene DOID:0070216 familial hyperinsulinemic hypoglycemia 3 ISO RGD:735697 D RGD:7240710 20180130 OMIM 12028656 GCK glucokinase gene DOID:0070216 familial hyperinsulinemic hypoglycemia 3 ISO RGD:735697 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperinsulinism due to glucokinase deficiency PMID:10447526|PMID:10455021|PMID:10525657|PMID:11315850|PMID:11315851|PMID:11372010|PMID:11553210|PMID:11916951|PMID:11942313|PMID:12442280|PMID:12627330|PMID:14517946|PMID:14517956|PMID:1502186|PMID:15277402|PMID:15305805|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16963153|PMID:16965331|PMID:17082186|PMID:17573900|PMID:17576681|PMID:17937063|PMID:18271687|PMID:19146401|PMID:19790256|PMID:20132997|PMID:20301620|PMID:20375417|PMID:21569204|PMID:21604084|PMID:21720051|PMID:22335469|PMID:22493702|PMID:22611063|PMID:24097065|PMID:24323243|PMID:24518839|PMID:24578721|PMID:24728127|PMID:24735133|PMID:25015100|PMID:25555642|PMID:25741868|PMID:25850297|PMID:26467025|PMID:27269892|PMID:27913849|PMID:28492532|PMID:29056535|PMID:29510678|PMID:30257192|PMID:31094068|PMID:31197960|PMID:31638168|PMID:32375122|PMID:33072637|PMID:33129248|PMID:36257325|PMID:7555485|PMID:8068341|PMID:8325892|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8454109|PMID:8495817|PMID:9049484|PMID:9435328|PMID:9469993|PMID:9536098 12028656 GCK glucokinase gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:735697 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10753050|PMID:11315828|PMID:11372010|PMID:11508276|PMID:11553210|PMID:11942313|PMID:12442280|PMID:12627330|PMID:1360036|PMID:1397713|PMID:14517946|PMID:14517956|PMID:14578306|PMID:1502186|PMID:15305805|PMID:15841481|PMID:15928245|PMID:16059790|PMID:16173921|PMID:16444761|PMID:16602010|PMID:16632067|PMID:16731834|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17389332|PMID:17573900|PMID:17937063|PMID:18271687|PMID:18322640|PMID:18382660|PMID:18399931|PMID:18411240|PMID:19002431|PMID:19309449|PMID:19515026|PMID:19564454|PMID:19790256|PMID:20301620|PMID:20337973|PMID:21104275|PMID:21348868|PMID:21569204|PMID:21604084|PMID:21720051|PMID:21831042|PMID:21921030|PMID:22028181|PMID:22060211|PMID:22335469|PMID:22389783|PMID:22493702|PMID:22611063|PMID:22773699|PMID:22820548|PMID:23295287|PMID:23295292|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24430320|PMID:24518839|PMID:24568320|PMID:24578721|PMID:24660669|PMID:24735133|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25306193|PMID:25414397|PMID:25555642|PMID:25741868|PMID:26467025|PMID:26552609|PMID:27080136|PMID:27185633|PMID:27256595|PMID:27269892|PMID:27271189|PMID:27913849|PMID:28012402|PMID:28170077|PMID:28492532|PMID:28663157|PMID:28701371|PMID:28726111|PMID:29056535|PMID:29207974|PMID:29510678|PMID:29777474|PMID:29927023|PMID:30191644|PMID:30257192|PMID:30259503|PMID:30590153|PMID:30592380|PMID:30656436|PMID:31063852|PMID:31197960|PMID:31216263|PMID:31576961|PMID:31638168|PMID:31957151|PMID:32017842|PMID:32074423|PMID:32375122|PMID:32533152|PMID:32741144|PMID:33046911|PMID:33129248|PMID:33477506|PMID:34023340|PMID:34393998|PMID:34440516|PMID:36257325|PMID:7553875|PMID:8094163|PMID:8094164|PMID:8168652|PMID:8325892|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8495817|PMID:8897004|PMID:9000695|PMID:9049484|PMID:9075802|PMID:9078243|PMID:9435328|PMID:9867845 12028656 GCK glucokinase gene DOID:0111100 maturity-onset diabetes of the young type 2 ISO RGD:735697 D RGD:7240710 20180130 OMIM 12028656 GCK glucokinase gene DOID:0111100 maturity-onset diabetes of the young type 2 ISO RGD:735697 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 2 PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10694920|PMID:10753050|PMID:10754480|PMID:11079754|PMID:11106831|PMID:11315828|PMID:11315850|PMID:11315851|PMID:11372010|PMID:11393552|PMID:11508276|PMID:11553210|PMID:11692182|PMID:11772903|PMID:11942313|PMID:12050210|PMID:12442280|PMID:12627330|PMID:12955723|PMID:1303265|PMID:1349989|PMID:1354782|PMID:1360036|PMID:1397713|PMID:14517946|PMID:14517956|PMID:14578306|PMID:1464666|PMID:1502186|PMID:15102714|PMID:15305805|PMID:15448103|PMID:1545870|PMID:15580558|PMID:15657605|PMID:15667334|PMID:15677479|PMID:1570017|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16173921|PMID:16199547|PMID:16444761|PMID:16502298|PMID:16602010|PMID:16632067|PMID:16731834|PMID:16938872|PMID:16963153|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17204055|PMID:17353190|PMID:17389332|PMID:17573900|PMID:17576681|PMID:17937063|PMID:18056790|PMID:18248649|PMID:18271687|PMID:18298419|PMID:18322640|PMID:18382660|PMID:18399931|PMID:18407139|PMID:18411240|PMID:18414213|PMID:18481947|PMID:19002431|PMID:19069349|PMID:19187021|PMID:19309449|PMID:19339519|PMID:19358091|PMID:19564454|PMID:19790256|PMID:19903754|PMID:20005544|PMID:20132997|PMID:20301620|PMID:20337973|PMID:20458967|PMID:21104275|PMID:21348868|PMID:21395678|PMID:21420961|PMID:21437567|PMID:21518409|PMID:21521320|PMID:21569204|PMID:21604084|PMID:21696527|PMID:21720051|PMID:21831042|PMID:21921030|PMID:22028181|PMID:22035297|PMID:22060211|PMID:22101819|PMID:22291974|PMID:22298776|PMID:22332836|PMID:22335469|PMID:22341299|PMID:22389783|PMID:22493702|PMID:22525692|PMID:22540858|PMID:22611063|PMID:22761713|PMID:22773699|PMID:22808921|PMID:22820548|PMID:23009393|PMID:23085272|PMID:23295287|PMID:23295292|PMID:23433541|PMID:23771172|PMID:23771925|PMID:23890519|PMID:24001579|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24411943|PMID:24430320|PMID:24518839|PMID:24549415|PMID:24568320|PMID:24578721|PMID:24660669|PMID:24677712|PMID:24728127|PMID:24735133|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25082184|PMID:25174781|PMID:25182307|PMID:25203462|PMID:25306193|PMID:25414397|PMID:25494859|PMID:25555642|PMID:25723349|PMID:25741868|PMID:25755231|PMID:25850297|PMID:25935773|PMID:26059258|PMID:26123671|PMID:26208450|PMID:26226118|PMID:26287533|PMID:26467025|PMID:26552609|PMID:26587058|PMID:26669242|PMID:27059371|PMID:27080136|PMID:27106716|PMID:27185633|PMID:27256595|PMID:27256596|PMID:27269892|PMID:27271189|PMID:27913849|PMID:27935851|PMID:28012402|PMID:28170077|PMID:28323911|PMID:28371533|PMID:28492532|PMID:28555465|PMID:28575730|PMID:28663157|PMID:28701371|PMID:28726111|PMID:28842611|PMID:29056535|PMID:29207974|PMID:29329106|PMID:29412391|PMID:29417725|PMID:29424410|PMID:29510678|PMID:29777474|PMID:29792621|PMID:29927023|PMID:30053375|PMID:30086370|PMID:30105470|PMID:30155490|PMID:30191644|PMID:30245511|PMID:30257192|PMID:30259503|PMID:30447144|PMID:30592380|PMID:30608898|PMID:30656436|PMID:30663027|PMID:30977832|PMID:31063852|PMID:31197960|PMID:31216263|PMID:31264968|PMID:31576961|PMID:31604004|PMID:31638168|PMID:31956423|PMID:31957151|PMID:31968686|PMID:32017842|PMID:32074423|PMID:32375122|PMID:32533152|PMID:32741144|PMID:33046911|PMID:33072637|PMID:33129248|PMID:33242514|PMID:33324081|PMID:33477506|PMID:33565752|PMID:34023340|PMID:34108472|PMID:34373539|PMID:34393998|PMID:34440516|PMID:34532767|PMID:34556497|PMID:34662886|PMID:34789499|PMID:35176401|PMID:35592779|PMID:36208030|PMID:36257325|PMID:36400171|PMID:7542040|PMID:7553875|PMID:7555485|PMID:8068341|PMID:8094163|PMID:8094164|PMID:8132752|PMID:8168652|PMID:8314448|PMID:8325892|PMID:8349034|PMID:8376578|PMID:8433729|PMID:8446612|PMID:8454109|PMID:8495817|PMID:8897004|PMID:8932999|PMID:9049484|PMID:9078243|PMID:9472859|PMID:9536098|PMID:9662401|PMID:9713013|PMID:9736233|PMID:9867845 12028656 GCK glucokinase gene DOID:0111102 maturity-onset diabetes of the young type 3 ISO RGD:735697 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 3 PMID:19790256|PMID:25741868|PMID:28726111 12028656 GCK glucokinase gene DOID:10763 hypertension susceptibility ISO RGD:735697 D RGD:9068941 20200609 RGD PMID:9324112|REF_RGD_ID:1581877 12028656 GCK glucokinase gene DOID:11714 gestational diabetes ISO RGD:735697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gestational diabetes PMID:10525657|PMID:10754480|PMID:12442280|PMID:14517946|PMID:14517956|PMID:15102714|PMID:15305805|PMID:16731834|PMID:17186219|PMID:17389332|PMID:17937063|PMID:18056790|PMID:18414213|PMID:19790256|PMID:20337973|PMID:21395678|PMID:21831042|PMID:21921030|PMID:21978167|PMID:22028181|PMID:22065275|PMID:22493702|PMID:22820548|PMID:23771172|PMID:24033266|PMID:24568320|PMID:24578721|PMID:25082184|PMID:25306193|PMID:25494859|PMID:25555642|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29510678|PMID:29777474|PMID:30191644|PMID:32074423|PMID:36257325|PMID:8068341|PMID:8132752|PMID:8433729|PMID:8446612 12028656 GCK glucokinase gene DOID:11717 neonatal diabetes ISO RGD:735697 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neonatal diabetes mellitus PMID:27269892|PMID:29510678|PMID:30257192|PMID:31197960|PMID:32375122|PMID:33129248 12028656 GCK glucokinase gene DOID:13317 hyperinsulinemic hypoglycemia ISO RGD:731555 D RGD:9068941 20220825 MouseDO OMIM:256450 | OMIM:601820 | OMIM:602485 | OMIM:606762 | OMIM:609968 | OMIM:609975 | OMIM:610021 12028656 GCK glucokinase gene DOID:2018 hyperinsulinism ISO RGD:735697 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperinsulinism, Dominant PMID:27269892|PMID:29510678|PMID:30257192|PMID:31197960|PMID:32375122|PMID:33129248 12028656 GCK glucokinase gene DOID:3393 coronary artery disease susceptibility ISO RGD:735697 D RGD:9068941 20200806 RGD DNA:SNP:promoter:-30G>A (human) PMID:15173029|REF_RGD_ID:2301876 12028656 GCK glucokinase gene DOID:4195 hyperglycemia ISO RGD:735697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18056790 12028656 GCK glucokinase gene DOID:4195 hyperglycemia treatment ISO RGD:731555 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:21937665|REF_RGD_ID:7488968 12028656 GCK glucokinase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12028656 GCK glucokinase gene DOID:630 genetic disease ISO RGD:735697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11393552|PMID:19884385|PMID:21831042|PMID:22101819|PMID:25741868|PMID:26467025|PMID:27188453|PMID:27269892|PMID:28247534|PMID:28492532|PMID:28726111|PMID:29510678|PMID:30257192|PMID:31197960|PMID:32375122|PMID:33129248 12028656 GCK glucokinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 12028656 GCK glucokinase gene DOID:9002261 Permanent Neonatal Diabetes Mellitus 1 ISO RGD:735697 D RGD:7240710 20200506 OMIM 12028656 GCK glucokinase gene DOID:9002261 Permanent Neonatal Diabetes Mellitus 1 ISO RGD:735697 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus 1 PMID:10525657|PMID:11372010|PMID:11553210|PMID:1502186|PMID:17573900|PMID:17937063|PMID:20301620|PMID:21569204|PMID:21720051|PMID:22335469|PMID:24323243|PMID:24735133|PMID:25555642|PMID:25741868|PMID:26467025|PMID:27269892|PMID:28492532|PMID:29056535|PMID:29510678|PMID:30257192|PMID:31197960|PMID:31638168|PMID:32375122|PMID:33129248|PMID:36257325|PMID:8325892|PMID:8446612|PMID:8495817|PMID:9049484 12028656 GCK glucokinase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2670 D RGD:9068941 20200609 RGD protein:decreased activity:liver:reduced activity, energy of activation and affinity for glucose in streptozotocin diabetic rats PMID:2132180|REF_RGD_ID:2301955 12028656 GCK glucokinase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12028656 GCK glucokinase gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:735697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15277402 12028656 GCK glucokinase gene DOID:9007692 Insulin Resistance ISO RGD:2670 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic islet PMID:19039094|REF_RGD_ID:7488970 12028656 GCK glucokinase gene DOID:9008691 Liver Injury ISO RGD:2670 D RGD:9068941 20200609 RGD protein:increased nitration, increased oxidation, decreased expression, decreased activity:liver PMID:22884880|REF_RGD_ID:7488971 12028656 GCK glucokinase gene DOID:9351 diabetes mellitus ISO RGD:735697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10447526|PMID:10525657|PMID:11079754|PMID:11508276|PMID:11942313|PMID:12442280|PMID:12627330|PMID:12955723|PMID:14517946|PMID:14517956|PMID:15102714|PMID:15305805|PMID:15448103|PMID:15667334|PMID:15752705|PMID:16444761|PMID:16602010|PMID:16731834|PMID:16965331|PMID:17204055|PMID:17353190|PMID:17389332|PMID:17573900|PMID:17937063|PMID:18056790|PMID:18399931|PMID:18407139|PMID:18414213|PMID:18481947|PMID:19069349|PMID:19150152|PMID:19187021|PMID:19228875|PMID:19339519|PMID:19358091|PMID:19551638|PMID:19564454|PMID:19790256|PMID:20337973|PMID:20458967|PMID:21104275|PMID:21348868|PMID:21521320|PMID:21831042|PMID:21978167|PMID:22028181|PMID:22035297|PMID:22065275|PMID:22289546|PMID:22332836|PMID:22389783|PMID:22493702|PMID:22611063|PMID:22773699|PMID:23433541|PMID:23506826|PMID:24430320|PMID:24518839|PMID:24660669|PMID:24918535|PMID:25015100|PMID:25182307|PMID:25741868|PMID:26467025|PMID:26552609|PMID:27059371|PMID:27080136|PMID:27106716|PMID:28492532|PMID:28663157|PMID:28726111|PMID:28842611|PMID:29207974|PMID:29510678|PMID:30053375|PMID:30105470|PMID:30155490|PMID:30245511|PMID:31638168|PMID:32375122|PMID:34440516|PMID:7542040|PMID:8325892|PMID:8433729|PMID:8446612|PMID:8454109|PMID:8897004 12028656 GCK glucokinase gene DOID:9351 diabetes mellitus ISO RGD:735697 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10694920|PMID:11079754|PMID:11508276|PMID:11942313|PMID:12442280|PMID:12627330|PMID:12955723|PMID:1354782|PMID:14517946|PMID:14517956|PMID:14578306|PMID:15102714|PMID:15305805|PMID:15448103|PMID:15667334|PMID:15752705|PMID:15841481|PMID:15928245|PMID:16059790|PMID:16173921|PMID:16444761|PMID:16602010|PMID:16731834|PMID:16965331|PMID:17079173|PMID:17204055|PMID:17353190|PMID:17389332|PMID:17573900|PMID:17937063|PMID:18056790|PMID:18271687|PMID:18399931|PMID:18407139|PMID:18414213|PMID:18481947|PMID:19069349|PMID:19150152|PMID:19187021|PMID:19228875|PMID:19309449|PMID:19339519|PMID:19358091|PMID:19551638|PMID:19564454|PMID:19790256|PMID:20337973|PMID:20458967|PMID:21104275|PMID:21348868|PMID:21521320|PMID:21831042|PMID:21978167|PMID:22028181|PMID:22035297|PMID:22060211|PMID:22065275|PMID:22289546|PMID:22332836|PMID:22335469|PMID:22389783|PMID:22493702|PMID:22611063|PMID:22761713|PMID:22773699|PMID:23295292|PMID:23352578|PMID:23433541|PMID:23506826|PMID:23771172|PMID:24033266|PMID:24323243|PMID:24430320|PMID:24518839|PMID:24549415|PMID:24578721|PMID:24606082|PMID:24660669|PMID:24677712|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25174781|PMID:25182307|PMID:25306193|PMID:25414397|PMID:25555642|PMID:25741868|PMID:26226118|PMID:26287533|PMID:26467025|PMID:26552609|PMID:27059371|PMID:27080136|PMID:27106716|PMID:27256595|PMID:27256596|PMID:27269892|PMID:28012402|PMID:28170077|PMID:28371533|PMID:28492532|PMID:28663157|PMID:28726111|PMID:28842611|PMID:29056535|PMID:29207974|PMID:29510678|PMID:29927023|PMID:30053375|PMID:30105470|PMID:30155490|PMID:30191644|PMID:30245511|PMID:30257192|PMID:30259503|PMID:30447144|PMID:30592380|PMID:30663027|PMID:31197960|PMID:31216263|PMID:31416898|PMID:31604004|PMID:31638168|PMID:31704690|PMID:31957151|PMID:32375122|PMID:32533152|PMID:33046911|PMID:33129248|PMID:33477506|PMID:34108472|PMID:34373539|PMID:34440516|PMID:34556497|PMID:34662886|PMID:34746319|PMID:35176401|PMID:36208030|PMID:36257325|PMID:36400171|PMID:7542040|PMID:7553875|PMID:8068341|PMID:8168652|PMID:8325892|PMID:8433729|PMID:8446612|PMID:8454109|PMID:8897004|PMID:8933019|PMID:9000695|PMID:9049484|PMID:9075802|PMID:9078243|PMID:9435328|PMID:9472859|PMID:9662401|PMID:9713013|PMID:9867845 12028656 GCK glucokinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:735697 D RGD:7240710 20180130 OMIM 12028656 GCK glucokinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:735697 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10753050|PMID:11315828|PMID:11508276|PMID:11942313|PMID:12442280|PMID:12627330|PMID:1360036|PMID:1397713|PMID:14517946|PMID:14517956|PMID:14578306|PMID:15305805|PMID:15841481|PMID:15928245|PMID:16059790|PMID:16173921|PMID:16444761|PMID:16602010|PMID:16632067|PMID:16731834|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17389332|PMID:17573900|PMID:18271687|PMID:18322640|PMID:18382660|PMID:18399931|PMID:18411240|PMID:19002431|PMID:19309449|PMID:19515026|PMID:19790256|PMID:20337973|PMID:21104275|PMID:21348868|PMID:21604084|PMID:21831042|PMID:21921030|PMID:22028181|PMID:22060211|PMID:22335469|PMID:22389783|PMID:22493702|PMID:22611063|PMID:22773699|PMID:22820548|PMID:23295287|PMID:23295292|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24430320|PMID:24518839|PMID:24568320|PMID:24578721|PMID:24660669|PMID:24735133|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25306193|PMID:25414397|PMID:25555642|PMID:25741868|PMID:26467025|PMID:26552609|PMID:27080136|PMID:27185633|PMID:27269892|PMID:27271189|PMID:28012402|PMID:28170077|PMID:28492532|PMID:28663157|PMID:28701371|PMID:28726111|PMID:29056535|PMID:29207974|PMID:29510678|PMID:29777474|PMID:29927023|PMID:30191644|PMID:30257192|PMID:30590153|PMID:30592380|PMID:30656436|PMID:31063852|PMID:31197960|PMID:31216263|PMID:31576961|PMID:31638168|PMID:31957151|PMID:32017842|PMID:32074423|PMID:32375122|PMID:32533152|PMID:32741144|PMID:33046911|PMID:33129248|PMID:33477506|PMID:34023340|PMID:34393998|PMID:34440516|PMID:36257325|PMID:7553875|PMID:8094163|PMID:8094164|PMID:8168652|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8897004|PMID:9000695|PMID:9049484|PMID:9075802|PMID:9078243|PMID:9435328|PMID:9867845 12028656 GCK glucokinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:735697 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10753050|PMID:11315828|PMID:11372010|PMID:11508276|PMID:11553210|PMID:11942313|PMID:12442280|PMID:12627330|PMID:1360036|PMID:1397713|PMID:14517946|PMID:14517956|PMID:14578306|PMID:1502186|PMID:15305805|PMID:15841481|PMID:15928245|PMID:16059790|PMID:16173921|PMID:16444761|PMID:16602010|PMID:16632067|PMID:16731834|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17389332|PMID:17573900|PMID:17937063|PMID:18271687|PMID:18322640|PMID:18382660|PMID:18399931|PMID:18411240|PMID:19002431|PMID:19309449|PMID:19515026|PMID:19564454|PMID:19790256|PMID:20301620|PMID:20337973|PMID:21104275|PMID:21348868|PMID:21569204|PMID:21604084|PMID:21720051|PMID:21831042|PMID:21921030|PMID:22028181|PMID:22060211|PMID:22335469|PMID:22389783|PMID:22493702|PMID:22611063|PMID:22773699|PMID:22820548|PMID:23295287|PMID:23295292|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24430320|PMID:24518839|PMID:24568320|PMID:24578721|PMID:24660669|PMID:24735133|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25306193|PMID:25414397|PMID:25555642|PMID:25741868|PMID:26467025|PMID:26552609|PMID:27080136|PMID:27185633|PMID:27256595|PMID:27269892|PMID:27271189|PMID:27913849|PMID:28012402|PMID:28170077|PMID:28492532|PMID:28663157|PMID:28701371|PMID:28726111|PMID:29056535|PMID:29207974|PMID:29510678|PMID:29777474|PMID:29927023|PMID:30191644|PMID:30257192|PMID:30259503|PMID:30590153|PMID:30592380|PMID:30656436|PMID:31063852|PMID:31197960|PMID:31216263|PMID:31576961|PMID:31638168|PMID:31957151|PMID:32017842|PMID:32074423|PMID:32375122|PMID:32533152|PMID:32741144|PMID:33046911|PMID:33129248|PMID:33477506|PMID:34023340|PMID:34393998|PMID:34440516|PMID:36257325|PMID:7553875|PMID:8094163|PMID:8094164|PMID:8168652|PMID:8325892|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8495817|PMID:8897004|PMID:9000695|PMID:9049484|PMID:9075802|PMID:9078243|PMID:9435328|PMID:9867845 12028656 GCK glucokinase gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:735697 D RGD:9068941 20200609 RGD DNA:microsatellite marker genotypes:3', 5':no association between genotypes of upstream or downstream microsatellite markers and T2DM in Welsh Caucasians PMID:8314445|REF_RGD_ID:2301883 12028656 GCK glucokinase gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:735697 D RGD:9068941 20200609 RGD DNA:polymorphisms:multiple:no association between multiple SSLP and SNP alleles and T2DM in a Japanese population PMID:8200206|REF_RGD_ID:2301887 12028656 GCK glucokinase gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:2670 D RGD:9068941 20200609 RGD PMID:22234649|REF_RGD_ID:7488969 12028656 GCK glucokinase gene DOID:9452 fatty liver disease ISO RGD:2670 D RGD:9068941 20200609 RGD PMID:22925001|REF_RGD_ID:7488945 12028656 GCK glucokinase gene DOID:9452 fatty liver disease ISO RGD:731555 D RGD:9068941 20200609 RGD associated with Hyperglycemia PMID:22925001|REF_RGD_ID:7488945 12028656 GCK glucokinase gene DOID:9970 obesity ISO RGD:2670 D RGD:9068941 20200609 RGD DNA, mRNA, protein:hypermethylation, increased expression:liver PMID:21239437|REF_RGD_ID:7488967 12028656 GCK glucokinase gene DOID:9993 hypoglycemia ISO RGD:735697 D RGD:9068941 20200609 RGD hyperinsulinemic hypoglycemia,OMIM:602485;DNA:point mutation:exon:V455M PMID:9435328|REF_RGD_ID:1601294 12028673 ADA adenosine deaminase gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:736149 D RGD:9068941 20220610 RGD protein:increased activity:saliva: PMID:20379753|REF_RGD_ID:152995262 12028673 ADA adenosine deaminase gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:736149 D RGD:9068941 20220610 RGD PMID:27221867|REF_RGD_ID:152995268 12028673 ADA adenosine deaminase gene DOID:0060041 autism spectrum disorder ISO RGD:736149 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12028673 ADA adenosine deaminase gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:736149 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:25741868|PMID:28492532 12028673 ADA adenosine deaminase gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:736149 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive PMID:1346349|PMID:25326637|PMID:25741868|PMID:26376800|PMID:26467025|PMID:2651461|PMID:2773932|PMID:28492532|PMID:3182793|PMID:3475710|PMID:8401541|PMID:8614422|PMID:9758612 12028673 ADA adenosine deaminase gene DOID:10113 trypanosomiasis ISO RGD:2031 D RGD:9068941 20200609 RGD PMID:20809996|REF_RGD_ID:5128861 12028673 ADA adenosine deaminase gene DOID:10247 pleurisy ISO RGD:10081 D RGD:9068941 20200609 RGD PMID:16860713|REF_RGD_ID:5128847 12028673 ADA adenosine deaminase gene DOID:10457 Legionnaires' disease ISO RGD:736149 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9255891|REF_RGD_ID:5128857 12028673 ADA adenosine deaminase gene DOID:10534 stomach cancer ISO RGD:736149 D RGD:9068941 20220616 RGD protein:increased expression:stomach: PMID:8076377|REF_RGD_ID:152995290 12028673 ADA adenosine deaminase gene DOID:10534 stomach cancer treatment ISO RGD:736149 D RGD:9068941 20220610 RGD PMID:4010093|REF_RGD_ID:152995265 12028673 ADA adenosine deaminase gene DOID:106 pleural tuberculosis ISO RGD:736149 D RGD:9068941 20220616 RGD PMID:18357489|REF_RGD_ID:152995288 12028673 ADA adenosine deaminase gene DOID:106 pleural tuberculosis ISO RGD:736149 D RGD:9068941 20220616 RGD protein:increased activity:pleural fluid: PMID:21860532|REF_RGD_ID:152995280 12028673 ADA adenosine deaminase gene DOID:106 pleural tuberculosis ISO RGD:736149 D RGD:9068941 20220616 RGD protein:increased expression:serum: PMID:1689629|REF_RGD_ID:152995292 12028673 ADA adenosine deaminase gene DOID:106 pleural tuberculosis ISO RGD:736149 D RGD:9068941 20220707 RGD protein:increased activity:serum: PMID:1818842|REF_RGD_ID:152998934 12028673 ADA adenosine deaminase gene DOID:10763 hypertension ISO RGD:2031 D RGD:9068941 20200609 RGD PMID:9605386|REF_RGD_ID:1624292 12028673 ADA adenosine deaminase gene DOID:10808 gastric ulcer ISO RGD:736149 D RGD:9068941 20220708 RGD protein:decreased activity:stomach: PMID:20029210|REF_RGD_ID:152998951 12028673 ADA adenosine deaminase gene DOID:11100 Q fever ISO RGD:736149 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9255891|REF_RGD_ID:5128857 12028673 ADA adenosine deaminase gene DOID:11396 pulmonary edema ISO RGD:2031 D RGD:9068941 20200609 RGD associated with Acute Lung Injury PMID:20228181|REF_RGD_ID:5128842 12028673 ADA adenosine deaminase gene DOID:1168 familial hyperlipidemia treatment ISO RGD:2031 D RGD:9068941 20220708 RGD PMID:30679022|REF_RGD_ID:152998957 12028673 ADA adenosine deaminase gene DOID:12849 autistic disorder ISO RGD:736149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11354825 12028673 ADA adenosine deaminase gene DOID:13223 uterine fibroid susceptibility ISO RGD:736149 D RGD:9068941 20220610 RGD DNA:polymorphisms: : PMID:26918693|REF_RGD_ID:152995264 12028673 ADA adenosine deaminase gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:736149 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9255891|REF_RGD_ID:5128857 12028673 ADA adenosine deaminase gene DOID:13406 pulmonary sarcoidosis ISO RGD:736149 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:10410539|REF_RGD_ID:5128856 12028673 ADA adenosine deaminase gene DOID:14484 sporotrichosis ISO RGD:2031 D RGD:9068941 20220617 RGD protein:altered activity:serum,lymphocyte PMID:22169893|REF_RGD_ID:152995407 12028673 ADA adenosine deaminase gene DOID:1790 malignant mesothelioma treatment ISO RGD:736149 D RGD:9068941 20220616 RGD PMID:17952507|REF_RGD_ID:152995277 12028673 ADA adenosine deaminase gene DOID:219 colon cancer ISO RGD:736149 D RGD:9068941 20220616 RGD protein:increased activity:colon PMID:15820509|REF_RGD_ID:152995289 12028673 ADA adenosine deaminase gene DOID:219 colon cancer susceptibility ISO RGD:736149 D RGD:9068941 20220610 RGD DNA:polymorphisms,haplotypes: : PMID:20590444|REF_RGD_ID:152995263 12028673 ADA adenosine deaminase gene DOID:2234 focal epilepsy ISO RGD:736149 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12028673 ADA adenosine deaminase gene DOID:2297 leptospirosis ISO RGD:2031 D RGD:9068941 20200609 RGD PMID:21320715|REF_RGD_ID:5128858 12028673 ADA adenosine deaminase gene DOID:2841 asthma susceptibility ISO RGD:736149 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:16754522|REF_RGD_ID:5128848 12028673 ADA adenosine deaminase gene DOID:2876 laryngeal squamous cell carcinoma ISO RGD:736149 D RGD:9068941 20220610 RGD protein:decreased activity:larynx PMID:8138195|REF_RGD_ID:152995273 12028673 ADA adenosine deaminase gene DOID:2957 pulmonary tuberculosis ISO RGD:736149 D RGD:9068941 20200609 RGD protein:increased expression:plasma, respiratory system fluid/secretion PMID:12194640|REF_RGD_ID:5128854 12028673 ADA adenosine deaminase gene DOID:2957 pulmonary tuberculosis ISO RGD:736149 D RGD:9068941 20220610 RGD protein:increased activity:sputum: PMID:19460251|REF_RGD_ID:152995271 12028673 ADA adenosine deaminase gene DOID:2957 pulmonary tuberculosis ISO RGD:736149 D RGD:9068941 20220616 RGD protein:increased activity:blood, pulmonary alveolar duct PMID:2212911|REF_RGD_ID:152995390 12028673 ADA adenosine deaminase gene DOID:319 spinal cord disease ISO RGD:736149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16325979 12028673 ADA adenosine deaminase gene DOID:3908 lung non-small cell carcinoma ISO RGD:736149 D RGD:9068941 20220616 RGD protein:decreased expression:lymphocyte,erythrocyte: PMID:31375946|REF_RGD_ID:152995295 12028673 ADA adenosine deaminase gene DOID:4195 hyperglycemia ISO RGD:2031 D RGD:9068941 20200609 RGD protein:decreased expression:mesangial cell PMID:12472193|REF_RGD_ID:1624290 12028673 ADA adenosine deaminase gene DOID:5810 adenosine deaminase deficiency ISO RGD:736149 D RGD:7240710 20180130 OMIM 12028673 ADA adenosine deaminase gene DOID:5810 adenosine deaminase deficiency ISO RGD:736149 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency PMID:10200056|PMID:11067872|PMID:11160213|PMID:11313286|PMID:11354825|PMID:11807006|PMID:1284479|PMID:1346349|PMID:14499267|PMID:16199547|PMID:16276484|PMID:1680289|PMID:16825284|PMID:1696926|PMID:17001642|PMID:17181544|PMID:17185467|PMID:17576681|PMID:18952502|PMID:19179314|PMID:19665771|PMID:1974554|PMID:19830125|PMID:20544538|PMID:21228398|PMID:21410451|PMID:21624848|PMID:21664875|PMID:2166947|PMID:21865538|PMID:22409989|PMID:22447032|PMID:22764473|PMID:22968453|PMID:23260757|PMID:23348723|PMID:24033266|PMID:25326637|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25875700|PMID:26255240|PMID:26376800|PMID:2651461|PMID:27095930|PMID:27129325|PMID:27484032|PMID:2758612|PMID:2773932|PMID:2783588|PMID:28266921|PMID:28492532|PMID:29744787|PMID:3007108|PMID:30290665|PMID:31031743|PMID:31319225|PMID:31589898|PMID:31681265|PMID:31781678|PMID:3182793|PMID:31858364|PMID:32135276|PMID:32245326|PMID:32307643|PMID:32445296|PMID:3366897|PMID:3475710|PMID:3684597|PMID:3839802|PMID:46025|PMID:498598|PMID:6208479|PMID:7554472|PMID:7599635|PMID:8023852|PMID:8031011|PMID:8051429|PMID:8120281|PMID:8178821|PMID:8227344|PMID:8258146|PMID:8299233|PMID:8401541|PMID:8589684|PMID:8614422|PMID:8673127|PMID:9108404|PMID:9225964|PMID:9361033|PMID:9414266|PMID:9536098|PMID:9616253|PMID:9758612|PMID:980079|PMID:9806422 12028673 ADA adenosine deaminase gene DOID:5810 adenosine deaminase deficiency ISO RGD:736149 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency PMID:10200056|PMID:11067872|PMID:11160213|PMID:11313286|PMID:11354825|PMID:11807006|PMID:1284479|PMID:1346349|PMID:14499267|PMID:16199547|PMID:16276484|PMID:1680289|PMID:16825284|PMID:1696926|PMID:17001642|PMID:17181544|PMID:17185467|PMID:17576681|PMID:18952502|PMID:19179314|PMID:19665771|PMID:1974554|PMID:19830125|PMID:20544538|PMID:21228398|PMID:21410451|PMID:21624848|PMID:21664875|PMID:2166947|PMID:21865538|PMID:22409989|PMID:22447032|PMID:22764473|PMID:22968453|PMID:23260757|PMID:23348723|PMID:24033266|PMID:25326637|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25875700|PMID:26255240|PMID:26376800|PMID:26467025|PMID:2651461|PMID:27095930|PMID:27129325|PMID:27484032|PMID:2758612|PMID:2773932|PMID:2783588|PMID:28266921|PMID:28492532|PMID:29744787|PMID:3007108|PMID:30290665|PMID:31031743|PMID:31319225|PMID:31589898|PMID:31681265|PMID:31781678|PMID:3182793|PMID:31858364|PMID:32135276|PMID:32245326|PMID:32307643|PMID:32445296|PMID:3366897|PMID:3475710|PMID:3684597|PMID:3839802|PMID:46025|PMID:498598|PMID:6208479|PMID:7554472|PMID:7599635|PMID:8023852|PMID:8031011|PMID:8051429|PMID:8120281|PMID:8178821|PMID:8227344|PMID:8258146|PMID:8299233|PMID:8401541|PMID:8433873|PMID:8589684|PMID:8614422|PMID:8673127|PMID:9108404|PMID:9225964|PMID:9361033|PMID:9414266|PMID:9536098|PMID:9616253|PMID:9758612|PMID:980079|PMID:9806422 12028673 ADA adenosine deaminase gene DOID:5810 adenosine deaminase deficiency ISO RGD:736149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency PMID:10200056|PMID:11067872|PMID:11160213|PMID:11313286|PMID:11354825|PMID:11807006|PMID:11901152|PMID:1284479|PMID:1346349|PMID:14499267|PMID:16199547|PMID:16276484|PMID:1680289|PMID:16825284|PMID:1696926|PMID:17001642|PMID:17181544|PMID:17185467|PMID:17576681|PMID:18952502|PMID:19179314|PMID:19665771|PMID:1974554|PMID:19830125|PMID:20544538|PMID:21228398|PMID:21410451|PMID:21624848|PMID:21664875|PMID:2166947|PMID:21865538|PMID:22409989|PMID:22447032|PMID:22764473|PMID:22968453|PMID:23260757|PMID:23348723|PMID:24033266|PMID:25326637|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25875700|PMID:25954555|PMID:26255240|PMID:26376800|PMID:26467025|PMID:2651461|PMID:27095930|PMID:27129325|PMID:27484032|PMID:2758612|PMID:2773932|PMID:2783588|PMID:27872624|PMID:28266921|PMID:28492532|PMID:29744787|PMID:3007108|PMID:30290665|PMID:30778343|PMID:30858051|PMID:31031743|PMID:31319225|PMID:31589898|PMID:31681265|PMID:31781678|PMID:3182793|PMID:31858364|PMID:32135276|PMID:32245326|PMID:32307643|PMID:32445296|PMID:32888943|PMID:33628209|PMID:3366897|PMID:3475710|PMID:3684597|PMID:3839802|PMID:46025|PMID:498598|PMID:6208479|PMID:7554472|PMID:7599635|PMID:7691348|PMID:8023852|PMID:8031011|PMID:8051429|PMID:8120281|PMID:8178821|PMID:8227344|PMID:8258146|PMID:8299233|PMID:8401541|PMID:8433873|PMID:8589684|PMID:8614422|PMID:8673127|PMID:9108404|PMID:9225964|PMID:9361033|PMID:9414266|PMID:9536098|PMID:9616253|PMID:9758612|PMID:980079|PMID:9806422 12028673 ADA adenosine deaminase gene DOID:612 primary immunodeficiency disease ISO RGD:10081 D RGD:9068941 20200609 RGD PMID:9478961|REF_RGD_ID:1300251 12028673 ADA adenosine deaminase gene DOID:614 lymphopenia ISO RGD:10081 D RGD:9068941 20200609 RGD PMID:9478961|REF_RGD_ID:1300251 12028673 ADA adenosine deaminase gene DOID:627 severe combined immunodeficiency ISO RGD:736149 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:1284479|PMID:14499267|PMID:16199547|PMID:16825284|PMID:17001642|PMID:17576681|PMID:18952502|PMID:19179314|PMID:1974554|PMID:19830125|PMID:21664875|PMID:2166947|PMID:21865538|PMID:22409989|PMID:22447032|PMID:22764473|PMID:22968453|PMID:23348723|PMID:24033266|PMID:25525159|PMID:25741868|PMID:25875700|PMID:26255240|PMID:26376800|PMID:2651461|PMID:27129325|PMID:2758612|PMID:2783588|PMID:28492532|PMID:29744787|PMID:30290665|PMID:31031743|PMID:31681265|PMID:3182793|PMID:31858364|PMID:32245326|PMID:32307643|PMID:3839802|PMID:498598|PMID:6208479|PMID:7554472|PMID:7599635|PMID:7691348|PMID:8023852|PMID:8051429|PMID:8120281|PMID:8178821|PMID:8227344|PMID:8589684|PMID:8673127|PMID:9225964|PMID:9361033|PMID:9414266|PMID:9536098|PMID:9616253|PMID:9758612|PMID:980079|PMID:9806422 12028673 ADA adenosine deaminase gene DOID:8283 peritonitis ISO RGD:2031 D RGD:9068941 20200609 RGD protein:increased expression:peritoneal fluid PMID:15969953|REF_RGD_ID:1624309 12028673 ADA adenosine deaminase gene DOID:8283 peritonitis ISO RGD:2031 D RGD:9068941 20220617 RGD protein:decreased activity:serum PMID:15373900|REF_RGD_ID:152995406 12028673 ADA adenosine deaminase gene DOID:850 lung disease ISO RGD:2031 D RGD:9068941 20200609 RGD associated with Reperfusion Injury;protein:increased expression:lung PMID:18561952|REF_RGD_ID:5128845 12028673 ADA adenosine deaminase gene DOID:8618 oral cavity cancer ISO RGD:736149 D RGD:9068941 20220616 RGD protein:decreased activity:saliva: PMID:16120121|REF_RGD_ID:152995281 12028673 ADA adenosine deaminase gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:736149 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12028673 ADA adenosine deaminase gene DOID:9000528 Coronary Disease ISO RGD:736149 D RGD:9068941 20200609 RGD protein:increased expression:leukocyte PMID:17259686|REF_RGD_ID:1624286 12028673 ADA adenosine deaminase gene DOID:9001191 Cadmium Poisoning treatment ISO RGD:2031 D RGD:9068941 20220617 RGD PMID:27491636|REF_RGD_ID:152995409 12028673 ADA adenosine deaminase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12028673 ADA adenosine deaminase gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2031 D RGD:9068941 20220616 RGD protein:increased activity:brain: PMID:25720338|REF_RGD_ID:152995398 12028673 ADA adenosine deaminase gene DOID:9005172 Lung Neoplasms ISO RGD:736149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2305558 12028673 ADA adenosine deaminase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10081 D RGD:9068941 20200609 RGD PMID:9784839|REF_RGD_ID:2313540 12028673 ADA adenosine deaminase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2031 D RGD:9068941 20200609 RGD protein:increased expression:platelet PMID:19166862|REF_RGD_ID:2313538 12028673 ADA adenosine deaminase gene DOID:9005883 Pleural Effusion treatment ISO RGD:736149 D RGD:9068941 20220610 RGD PMID:25547995|REF_RGD_ID:152995274 12028673 ADA adenosine deaminase gene DOID:9006599 Hypertriglyceridemia treatment ISO RGD:2031 D RGD:9068941 20220616 RGD PMID:30280312|REF_RGD_ID:152995395 12028673 ADA adenosine deaminase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2031 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:21161045|REF_RGD_ID:5128859 12028673 ADA adenosine deaminase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2031 D RGD:9068941 20200609 RGD protein:increased expression PMID:16641873|REF_RGD_ID:1624305 12028673 ADA adenosine deaminase gene DOID:9007871 Malignant Pleural Effusions ISO RGD:736149 D RGD:9068941 20220616 RGD protein:decreased expression:serum: PMID:1689629|REF_RGD_ID:152995292 12028673 ADA adenosine deaminase gene DOID:9007871 Malignant Pleural Effusions ISO RGD:736149 D RGD:9068941 20220707 RGD protein:increased activity:serum: PMID:1818842|REF_RGD_ID:152998934 12028673 ADA adenosine deaminase gene DOID:9007871 Malignant Pleural Effusions disease_progression ISO RGD:736149 D RGD:9068941 20220610 RGD PMID:27300446|REF_RGD_ID:152995272 12028673 ADA adenosine deaminase gene DOID:9009039 Hyperemia ISO RGD:736149 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2502780|PMID:7949234 12028673 ADA adenosine deaminase gene DOID:9256 colorectal cancer disease_progression ISO RGD:736149 D RGD:9068941 20220616 RGD PMID:11114712|REF_RGD_ID:152995282 12028673 ADA adenosine deaminase gene DOID:9351 diabetes mellitus treatment ISO RGD:2031 D RGD:9068941 20220708 RGD PMID:25955284|REF_RGD_ID:152998952 12028673 ADA adenosine deaminase gene DOID:9352 type 2 diabetes mellitus ISO RGD:736149 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15168879|REF_RGD_ID:2313539 12028673 ADA adenosine deaminase gene DOID:9970 obesity ISO RGD:736149 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16501670|REF_RGD_ID:1624289 12028692 HOXC12 homeobox C12 gene DOID:630 genetic disease ISO RGD:1321500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028692 HOXC12 homeobox C12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12028697 CD22 CD22 molecule gene DOID:0050745 diffuse large B-cell lymphoma treatment ISO RGD:1323159 D RGD:9068941 20220311 RGD PMID:25708834|REF_RGD_ID:151665133 12028697 CD22 CD22 molecule gene DOID:0110222 Brugada syndrome 5 ISO RGD:1323159 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12028697 CD22 CD22 molecule gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1323159 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12028697 CD22 CD22 molecule gene DOID:543 dystonia ISO RGD:1323159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12028697 CD22 CD22 molecule gene DOID:630 genetic disease ISO RGD:1323159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028731 RPA1 replication protein A1 gene DOID:630 genetic disease ISO RGD:1316541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028731 RPA1 replication protein A1 gene DOID:9001341 Chloracne ISO RGD:1316541 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 12028731 RPA1 replication protein A1 gene DOID:9007119 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 6 ISO RGD:1316541 D RGD:7240710 20220316 OMIM 12028731 RPA1 replication protein A1 gene DOID:9007119 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 6 ISO RGD:1316541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 | ClinVar Annotator: match by term: RPA1-related short telomere syndrome PMID:25741868|PMID:34767620 12028755 HHAT hedgehog acyltransferase gene DOID:0060644 chondrodysplasia-pseudohermaphroditism syndrome ISO RGD:1351064 D RGD:7240710 20201223 OMIM 12028755 HHAT hedgehog acyltransferase gene DOID:0060644 chondrodysplasia-pseudohermaphroditism syndrome ISO RGD:1351064 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chondrodysplasia-pseudohermaphroditism syndrome PMID:24784881|PMID:25741868|PMID:28492532|PMID:30912300 12028755 HHAT hedgehog acyltransferase gene DOID:1540 parathyroid carcinoma ISO RGD:1351064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12028755 HHAT hedgehog acyltransferase gene DOID:630 genetic disease ISO RGD:1351064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15075292|PMID:18534984|PMID:23055936|PMID:24784881 12028755 HHAT hedgehog acyltransferase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1348457 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:0050476 Barth syndrome ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:0050700 cardiomyopathy ISO RGD:1557574 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle PMID:23619365|REF_RGD_ID:7495791 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:0060320 inguinal hernia ISO RGD:1348457 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inguinal hernia PMID:25741868 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1348457 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:10986043|PMID:14560307|PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22476991|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1348457 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:1206 Rett syndrome ISO RGD:1348457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:15712379 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:12849 autistic disorder ISO RGD:1348457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:13628 favism ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:1561 cognitive disorder treatment ISO RGD:1563841 D RGD:9068941 20200609 RGD PMID:22277195|REF_RGD_ID:7495794 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:1580 diffuse scleroderma susceptibility ISO RGD:1348457 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.F196S (rs1059702) (human) PMID:21898345|REF_RGD_ID:7495782 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:1749 squamous cell carcinoma disease_progression ISO RGD:1348457 D RGD:9068941 20200609 RGD PMID:24302991|REF_RGD_ID:7495785 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:2316 brain ischemia ISO RGD:1563841 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex PMID:21925238|REF_RGD_ID:7495802 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1348457 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:3393 coronary artery disease ISO RGD:1348457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20524934 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:607 paraplegia ISO RGD:1348457 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:630 genetic disease ISO RGD:1348457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:7147 ankylosing spondylitis susceptibility ISO RGD:1348457 D RGD:9068941 20200609 RGD DNA:SNP:enhancer: (rs3027898) (human) PMID:20500689|REF_RGD_ID:7495783 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1348457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:820 myocarditis ISO RGD:1557574 D RGD:9068941 20200609 RGD PMID:12860565|REF_RGD_ID:1582271 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:8893 psoriasis ISO RGD:1348457 D RGD:9068941 20200609 RGD PMID:23018031|REF_RGD_ID:7495784 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:9002720 Splenomegaly ISO RGD:1348457 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1348457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21925238 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:15689435|PMID:16080119|PMID:28492532 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:9005091 Lentivirus Infections ISO RGD:1348457 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26937033 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1563841 D RGD:9068941 20200609 RGD protein:increased activity:ventricle myocardium (rat) PMID:15793310|REF_RGD_ID:1579809 12028774 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:9008 psoriatic arthritis susceptibility ISO RGD:1348457 D RGD:9068941 20200609 RGD DNA:SNP:enhancer: (rs3027898) (human) PMID:20500689|REF_RGD_ID:7495783 12028797 RORC RAR related orphan receptor C gene DOID:0050628 advanced sleep phase syndrome ISO RGD:1317896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25395965 12028797 RORC RAR related orphan receptor C gene DOID:0111940 immunodeficiency 42 ISO RGD:1317896 D RGD:7240710 20180130 OMIM 12028797 RORC RAR related orphan receptor C gene DOID:0111940 immunodeficiency 42 ISO RGD:1317896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:16199547|PMID:25741868|PMID:26160376|PMID:28492532 12028797 RORC RAR related orphan receptor C gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1317896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12028797 RORC RAR related orphan receptor C gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1317896 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12028797 RORC RAR related orphan receptor C gene DOID:12894 Sjogren's syndrome ISO RGD:1317897 D RGD:9068941 20220825 MouseDO OMIM:270150 12028797 RORC RAR related orphan receptor C gene DOID:1540 parathyroid carcinoma ISO RGD:1317896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12028797 RORC RAR related orphan receptor C gene DOID:5812 MHC class II deficiency ISO RGD:1317896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12028797 RORC RAR related orphan receptor C gene DOID:630 genetic disease ISO RGD:1317896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12028797 RORC RAR related orphan receptor C gene DOID:874 bacterial pneumonia severity ISO RGD:1317897 D RGD:9068941 20200820 RGD PMID:25398094|REF_RGD_ID:38501102 12028797 RORC RAR related orphan receptor C gene DOID:9002311 Experimental Autoimmune Myocarditis severity ISO RGD:1595785 D RGD:9068941 20200903 RGD PMID:28892130|REF_RGD_ID:38549573 12028797 RORC RAR related orphan receptor C gene DOID:9005106 Animal Toxoplasmosis ISO RGD:1317897 D RGD:9068941 20200820 RGD mRNA:increased expression:placenta: PMID:21923716|REF_RGD_ID:38501105 12028797 RORC RAR related orphan receptor C gene DOID:9005372 Inflammation ISO RGD:1317896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22325453 12028797 RORC RAR related orphan receptor C gene DOID:9007204 Dysbiosis treatment ISO RGD:1595785 D RGD:9068941 20200903 RGD PMID:32227764|REF_RGD_ID:38549571 12028797 RORC RAR related orphan receptor C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12028819 PARP6 poly(ADP-ribose) polymerase family member 6 gene DOID:2717 Bloom syndrome ISO RGD:1344996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12028819 PARP6 poly(ADP-ribose) polymerase family member 6 gene DOID:3320 Tay-Sachs disease ISO RGD:1344996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 12028819 PARP6 poly(ADP-ribose) polymerase family member 6 gene DOID:630 genetic disease ISO RGD:1344996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028819 PARP6 poly(ADP-ribose) polymerase family member 6 gene DOID:9256 colorectal cancer ISO RGD:1344996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12028860 TMSB10 thymosin beta 10 gene DOID:3042 allergic contact dermatitis ISO RGD:731359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17597826 12028860 TMSB10 thymosin beta 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12028865 SNX20 sorting nexin 20 gene DOID:0111122 nephronophthisis 14 ISO RGD:1604540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 12028865 SNX20 sorting nexin 20 gene DOID:630 genetic disease ISO RGD:1604540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028873 GNAI1 G protein subunit alpha i1 gene DOID:0060001 withdrawal disorder ISO RGD:730824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12199159 12028873 GNAI1 G protein subunit alpha i1 gene DOID:10914 amnestic disorder ISO RGD:730824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11350863 12028873 GNAI1 G protein subunit alpha i1 gene DOID:1826 epilepsy ISO RGD:730824 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461|PMID:25741868 12028873 GNAI1 G protein subunit alpha i1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:730824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12028873 GNAI1 G protein subunit alpha i1 gene DOID:630 genetic disease ISO RGD:730824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028873 GNAI1 G protein subunit alpha i1 gene DOID:9002595 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES ISO RGD:730824 D RGD:7240710 20220706 OMIM 12028873 GNAI1 G protein subunit alpha i1 gene DOID:9002595 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES ISO RGD:730824 D RGD:8554872 20220705 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities PMID:25741868|PMID:28135719|PMID:33473207|PMID:34819662 12028873 GNAI1 G protein subunit alpha i1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730824 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33473207 12028888 CALR calreticulin gene DOID:0050731 vitamin B12 deficiency ISO RGD:620288 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:25982389|REF_RGD_ID:11352764 12028888 CALR calreticulin gene DOID:0050866 oral squamous cell carcinoma ISO RGD:731575 D RGD:9068941 20211119 RGD protein:increased expression:mouth (human) PMID:23375593|REF_RGD_ID:150521688 12028888 CALR calreticulin gene DOID:0050866 oral squamous cell carcinoma exacerbates ISO RGD:731575 D RGD:9068941 20211029 RGD protein:increased expression:oral epithelium (human) PMID:28599487|REF_RGD_ID:150520158 12028888 CALR calreticulin gene DOID:0050990 episodic ataxia type 2 ISO RGD:731575 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12028888 CALR calreticulin gene DOID:0070004 myeloid neoplasm ISO RGD:731575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29047144 12028888 CALR calreticulin gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:731575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12028888 CALR calreticulin gene DOID:0111254 glutaric acidemia I ISO RGD:731575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12028888 CALR calreticulin gene DOID:10534 stomach cancer disease_progression ISO RGD:731575 D RGD:9068941 20211119 RGD protein:increased expression:stomach (human) PMID:31725767|REF_RGD_ID:150521680 12028888 CALR calreticulin gene DOID:10534 stomach cancer exacerbates ISO RGD:731575 D RGD:9068941 20211119 RGD protein:increased expression:stomach (human) PMID:19050968|REF_RGD_ID:150521686 12028888 CALR calreticulin gene DOID:1324 lung cancer ISO RGD:731575 D RGD:9068941 20211119 RGD protein:increased expression:blood serum (human) PMID:22083347|PMID:24111870|REF_RGD_ID:150521678|REF_RGD_ID:150521704 12028888 CALR calreticulin gene DOID:1324 lung cancer treatment ISO RGD:1550061 D RGD:9068941 20211119 RGD PMID:32161598|REF_RGD_ID:150521699 12028888 CALR calreticulin gene DOID:1324 lung cancer treatment ISO RGD:731575 D RGD:9068941 20211029 RGD PMID:26314964|REF_RGD_ID:150520159 12028888 CALR calreticulin gene DOID:1324 lung cancer treatment ISO RGD:731575 D RGD:9068941 20211119 RGD human cells and recombinant gene in a mouse model PMID:12215887|REF_RGD_ID:150521700 12028888 CALR calreticulin gene DOID:1520 colon carcinoma treatment ISO RGD:731575 D RGD:9068941 20211119 RGD human cells and recombinant protein in a mouse model PMID:9858521|REF_RGD_ID:150521687 12028888 CALR calreticulin gene DOID:169 neuroendocrine tumor exacerbates ISO RGD:731575 D RGD:9068941 20211119 RGD human cells and recombinant protein in a mouse model PMID:16293970|REF_RGD_ID:150521697 12028888 CALR calreticulin gene DOID:219 colon cancer ameliorates ISO RGD:1550061 D RGD:9068941 20211119 RGD PMID:17187072|REF_RGD_ID:150521684 12028888 CALR calreticulin gene DOID:219 colon cancer ameliorates ISO RGD:731575 D RGD:9068941 20211119 RGD protein:increased expression:colon (human) PMID:20480531|REF_RGD_ID:150521693 12028888 CALR calreticulin gene DOID:219 colon cancer treatment ISO RGD:1550061 D RGD:9068941 20211119 RGD PMID:19881547|PMID:29573475|REF_RGD_ID:150521692|REF_RGD_ID:150521694 12028888 CALR calreticulin gene DOID:219 colon cancer treatment ISO RGD:731575 D RGD:9068941 20211119 RGD human cell line and recombinant gene in a mouse model PMID:19256344|REF_RGD_ID:150521701 12028888 CALR calreticulin gene DOID:2224 essential thrombocythemia ISO RGD:731575 D RGD:7240710 20180130 OMIM 12028888 CALR calreticulin gene DOID:2224 essential thrombocythemia ISO RGD:731575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 PMID:24325356|PMID:24325359|PMID:25741868 12028888 CALR calreticulin gene DOID:2224 essential thrombocythemia severity ISO RGD:731575 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:24496303|REF_RGD_ID:11352751 12028888 CALR calreticulin gene DOID:2228 thrombocytosis ISO RGD:731575 D RGD:9068941 20200609 RGD human gene in a mouse model;DNA:deletion, insertion:cds:c.1179_1230del, c.1234_1235insTTGTC (human) PMID:26608331|REF_RGD_ID:11352752 12028888 CALR calreticulin gene DOID:2228 thrombocytosis ISO RGD:731575 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism 12028888 CALR calreticulin gene DOID:234 colon adenocarcinoma ISO UniProtKB:Q76PP9 D RGD:9068941 20211119 RGD PMID:18812201|REF_RGD_ID:150521683 12028888 CALR calreticulin gene DOID:2394 ovarian cancer treatment ISO RGD:731575 D RGD:9068941 20211029 RGD PMID:26314964|REF_RGD_ID:150520159 12028888 CALR calreticulin gene DOID:3121 gallbladder cancer exacerbates ISO RGD:731575 D RGD:9068941 20211119 RGD mRNA, protein:increased expression:gall bladder (human) PMID:33591948|REF_RGD_ID:150521682 12028888 CALR calreticulin gene DOID:3413 alpha-mannosidosis ISO RGD:731575 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12028888 CALR calreticulin gene DOID:3498 pancreatic ductal adenocarcinoma ameliorates ISO RGD:731575 D RGD:9068941 20211029 RGD human cells in mouse model PMID:33028359|REF_RGD_ID:150520160 12028888 CALR calreticulin gene DOID:3498 pancreatic ductal adenocarcinoma ameliorates ISO RGD:731575 D RGD:9068941 20211119 RGD human cells in a mouse model PMID:29072694|REF_RGD_ID:150521706 12028888 CALR calreticulin gene DOID:3587 pancreatic ductal carcinoma ISO RGD:731575 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic duct PMID:15289361|REF_RGD_ID:2326165 12028888 CALR calreticulin gene DOID:3717 gastric adenocarcinoma ameliorates ISO RGD:1550061 D RGD:9068941 20211119 RGD human cell line and construct in a mouse model PMID:25619450|REF_RGD_ID:150521705 12028888 CALR calreticulin gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:731575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12028888 CALR calreticulin gene DOID:3748 esophagus squamous cell carcinoma ameliorates ISO RGD:731575 D RGD:9068941 20211119 RGD human cells in a mouse model PMID:19684620|PMID:23814025|REF_RGD_ID:150521679|REF_RGD_ID:150521703 12028888 CALR calreticulin gene DOID:3770 pulmonary fibrosis ISO RGD:1550061 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:18563736|REF_RGD_ID:2326172 12028888 CALR calreticulin gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:731575 D RGD:9068941 20211119 RGD mRNA, protein:increased expression:lung (human) PMID:29228584|REF_RGD_ID:150521696 12028888 CALR calreticulin gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:731575 D RGD:9068941 20211119 RGD protein:increased expression:lung (human) PMID:26842877|REF_RGD_ID:150521685 12028888 CALR calreticulin gene DOID:3910 lung adenocarcinoma treatment ISO RGD:731575 D RGD:9068941 20211119 RGD human cells and recombinant gene in a mouse model PMID:18245558|REF_RGD_ID:150521698 12028888 CALR calreticulin gene DOID:4971 myelofibrosis ISO RGD:731575 D RGD:7240710 20180130 OMIM 12028888 CALR calreticulin gene DOID:4971 myelofibrosis ISO RGD:731575 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis PMID:24325356|PMID:24325359|PMID:25741868 12028888 CALR calreticulin gene DOID:6000 congestive heart failure ISO RGD:1550061 D RGD:9068941 20220825 MouseDO 12028888 CALR calreticulin gene DOID:630 genetic disease ISO RGD:731575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028888 CALR calreticulin gene DOID:684 hepatocellular carcinoma ISO RGD:731575 D RGD:9068941 20211119 RGD PMID:12096119|REF_RGD_ID:150521690 12028888 CALR calreticulin gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:731575 D RGD:9068941 20211119 RGD protein:increased expression:liver (human) PMID:27055635|REF_RGD_ID:150521681 12028888 CALR calreticulin gene DOID:684 hepatocellular carcinoma treatment ISO RGD:731575 D RGD:9068941 20211119 RGD human cells and recombinant gene in a mouse model PMID:24997628|REF_RGD_ID:150521691 12028888 CALR calreticulin gene DOID:8584 Burkitt lymphoma treatment ISO RGD:731575 D RGD:9068941 20211119 RGD human cell line and recombinant protein in a mouse model PMID:10961892|REF_RGD_ID:150521702 12028888 CALR calreticulin gene DOID:8584 Burkitt lymphoma treatment ISO RGD:731575 D RGD:9068941 20211119 RGD human cells and recombinant protein in a mouse model PMID:9858521|REF_RGD_ID:150521687 12028888 CALR calreticulin gene DOID:8955 sideroblastic anemia ISO RGD:731575 D RGD:9068941 20200609 RGD DNA:frameshift mutations:cds:p.K385fs*47, p.L367fs*46 (human) PMID:24325359|REF_RGD_ID:11352763 12028888 CALR calreticulin gene DOID:9000784 Fibrosis disease_progression ISO RGD:620288 D RGD:9068941 20200609 RGD associated with kidney disease; mRNA, protein:increased expression:kidney cortex PMID:18563736|REF_RGD_ID:2326172 12028888 CALR calreticulin gene DOID:9002304 Prostatic Neoplasms ISO RGD:731575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 12028888 CALR calreticulin gene DOID:9002575 Myeloperoxidase Deficiency ISO RGD:731575 D RGD:9068941 20200609 RGD associated with Myelofibrosis;DNA:missense mutations:cds:multiple (human) PMID:27013444|REF_RGD_ID:11352758 12028888 CALR calreticulin gene DOID:9004118 Experimental Melanoma ISO RGD:731575 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16388313 12028888 CALR calreticulin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 12028888 CALR calreticulin gene DOID:9007102 Myocardial Ischemia ISO RGD:731575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12028888 CALR calreticulin gene DOID:9008443 Colorectal Neoplasms ISO RGD:731575 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17187072 12028888 CALR calreticulin gene DOID:9119 acute myeloid leukemia ISO RGD:731575 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood (human) PMID:26640226|REF_RGD_ID:11076986 12028888 CALR calreticulin gene DOID:9256 colorectal cancer ISO RGD:731575 D RGD:9068941 20211119 RGD protein:decreased expression:colorectum (human) PMID:26913609|REF_RGD_ID:150521695 12028888 CALR calreticulin gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:731575 D RGD:9068941 20211119 RGD protein:increased expression:epithelium of nasopharynx (human) PMID:31956372|REF_RGD_ID:150521689 12028888 CALR calreticulin gene DOID:9261 nasopharynx carcinoma exacerbates ISO RGD:731575 D RGD:9068941 20211029 RGD protein:increased expression:epithelium of nasopharynx (human) PMID:31632490|REF_RGD_ID:150520157 12028901 MFSD8 major facilitator superfamily domain containing 8 gene DOID:0050817 Stargardt disease ISO RGD:1606119 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: STGD PMID:25333361|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32581362 12028901 MFSD8 major facilitator superfamily domain containing 8 gene DOID:0050817 Stargardt disease ISO RGD:1606119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: STGD PMID:25333361|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32037395|PMID:32581362 12028901 MFSD8 major facilitator superfamily domain containing 8 gene DOID:0070280 primary autosomal recessive microcephaly 5 ISO RGD:1606119 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive PMID:25741868 12028901 MFSD8 major facilitator superfamily domain containing 8 gene DOID:0110722 neuronal ceroid lipofuscinosis 7 ISO RGD:1606119 D RGD:7240710 20180130 OMIM 12028901 MFSD8 major facilitator superfamily domain containing 8 gene DOID:0110722 neuronal ceroid lipofuscinosis 7 ISO RGD:1606119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 PMID:15074367|PMID:16199547|PMID:17564970|PMID:17576681|PMID:18414213|PMID:18850119|PMID:19177532|PMID:19201763|PMID:19277732|PMID:20826447|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25333361|PMID:25439737|PMID:25640679|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26467025|PMID:26681805|PMID:27146152|PMID:27848944|PMID:27884173|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:28708303|PMID:28794409|PMID:29389947|PMID:29655203|PMID:29924869|PMID:30382371|PMID:30548430|PMID:31006324|PMID:31216804|PMID:31489614|PMID:31597037|PMID:31618753|PMID:31721179|PMID:31741823|PMID:32005694|PMID:32037395|PMID:32399599|PMID:32581362|PMID:33084218|PMID:33546218|PMID:34910516|PMID:35087090|PMID:9177532|PMID:9536098 12028901 MFSD8 major facilitator superfamily domain containing 8 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1606119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis PMID:16199547|PMID:17564970|PMID:18414213|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25439737|PMID:25741868|PMID:26467025|PMID:26681805|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:33546218 12028901 MFSD8 major facilitator superfamily domain containing 8 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1606119 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 PMID:16199547|PMID:17564970|PMID:18414213|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25439737|PMID:25741868|PMID:26467025|PMID:26681805|PMID:27884173|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:33546218 12028901 MFSD8 major facilitator superfamily domain containing 8 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1606119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis PMID:16199547|PMID:17564970|PMID:18414213|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25439737|PMID:25741868|PMID:26467025|PMID:26681805|PMID:27884173|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:30382371|PMID:31489614|PMID:32399599|PMID:33546218 12028901 MFSD8 major facilitator superfamily domain containing 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1606119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:25333361|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32581362 12028901 MFSD8 major facilitator superfamily domain containing 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1606119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:25333361|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32037395|PMID:32581362 12028901 MFSD8 major facilitator superfamily domain containing 8 gene DOID:1059 intellectual disability ISO RGD:1606119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12028901 MFSD8 major facilitator superfamily domain containing 8 gene DOID:11832 visual epilepsy ISO RGD:1606119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:18414213|PMID:19277732|PMID:21990111|PMID:22668694|PMID:25227500|PMID:25333361|PMID:25741868|PMID:26467025|PMID:26681805|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28586915|PMID:29924869|PMID:31006324|PMID:32581362|PMID:33546218 12028901 MFSD8 major facilitator superfamily domain containing 8 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1606119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:19201763|PMID:19277732|PMID:22668694|PMID:25333361|PMID:25741868|PMID:26075876|PMID:28041643|PMID:28492532|PMID:28586915|PMID:28708303|PMID:31006324|PMID:31741823|PMID:32037395|PMID:32581362|PMID:34910516|PMID:35087090 12028901 MFSD8 major facilitator superfamily domain containing 8 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1606119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:19201763|PMID:19277732|PMID:21990111|PMID:22668694|PMID:25333361|PMID:25741868|PMID:26075876|PMID:28041643|PMID:28492532|PMID:28586915|PMID:28708303|PMID:31006324|PMID:31741823|PMID:32037395|PMID:32581362|PMID:34910516|PMID:35087090 12028901 MFSD8 major facilitator superfamily domain containing 8 gene DOID:1826 epilepsy ISO RGD:1606119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868|PMID:28492532|PMID:30382371 12028901 MFSD8 major facilitator superfamily domain containing 8 gene DOID:630 genetic disease ISO RGD:1606119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:18414213|PMID:19177532|PMID:19201763|PMID:19277732|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25333361|PMID:25439737|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26467025|PMID:26681805|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:28708303|PMID:29924869|PMID:30382371|PMID:31006324|PMID:31489614|PMID:32037395|PMID:32581362|PMID:33546218 12028901 MFSD8 major facilitator superfamily domain containing 8 gene DOID:8501 fundus dystrophy ISO RGD:1606119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:19177532|PMID:25227500|PMID:25333361|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32037395|PMID:32581362 12028901 MFSD8 major facilitator superfamily domain containing 8 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1606119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive 12028901 MFSD8 major facilitator superfamily domain containing 8 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1606119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive PMID:28492532 12028901 MFSD8 major facilitator superfamily domain containing 8 gene DOID:9004170 Macular Dystrophy with Central Cone Involvement ISO RGD:1606119 D RGD:7240710 20180130 OMIM 12028901 MFSD8 major facilitator superfamily domain containing 8 gene DOID:9004170 Macular Dystrophy with Central Cone Involvement ISO RGD:1606119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular dystrophy with central cone involvement PMID:16199547|PMID:17564970|PMID:17576681|PMID:19177532|PMID:19201763|PMID:21990111|PMID:25227500|PMID:25333361|PMID:25439737|PMID:25741868|PMID:26681805|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28586915|PMID:31006324|PMID:31597037|PMID:32037395|PMID:32581362|PMID:33546218|PMID:35457110|PMID:9536098 12028901 MFSD8 major facilitator superfamily domain containing 8 gene DOID:9006534 Nervous System Malformations ISO RGD:1606119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:17576681|PMID:25741868|PMID:28492532|PMID:31216804|PMID:9536098 12028901 MFSD8 major facilitator superfamily domain containing 8 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1606119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stargardt disease 1 PMID:25333361|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32581362 12028901 MFSD8 major facilitator superfamily domain containing 8 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1606119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Stargardt disease 1 PMID:25333361|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32037395|PMID:32581362 12028922 BFSP2 beaded filament structural protein 2 gene DOID:0110239 cataract 12 multiple types ISO RGD:1347093 D RGD:7240710 20180130 OMIM 12028922 BFSP2 beaded filament structural protein 2 gene DOID:0110239 cataract 12 multiple types ISO RGD:1347093 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cataract 12 multiple types PMID:10729115|PMID:12573667|PMID:14638724|PMID:21836522|PMID:25741868|PMID:28492532 12028922 BFSP2 beaded filament structural protein 2 gene DOID:12712 nephronophthisis ISO RGD:1347093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:18371931|PMID:23559409|PMID:28492532 12028922 BFSP2 beaded filament structural protein 2 gene DOID:630 genetic disease ISO RGD:1347093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12028922 BFSP2 beaded filament structural protein 2 gene DOID:83 cataract ISO RGD:1347093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract PMID:25741868 12028922 BFSP2 beaded filament structural protein 2 gene DOID:83 cataract susceptibility ISO RGD:1347093 D RGD:9068941 20200609 RGD protein:missense mutation:exon:p.R287W (human) PMID:10729115|REF_RGD_ID:1600516 12028922 BFSP2 beaded filament structural protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1347093 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay 12028922 BFSP2 beaded filament structural protein 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12028922 BFSP2 beaded filament structural protein 2 gene DOID:9270 alkaptonuria ISO RGD:1347093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12028933 LCA5 lebercilin LCA5 gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:1318396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:17576681|PMID:18334959|PMID:25741868|PMID:28492532|PMID:32865313|PMID:9536098 12028933 LCA5 lebercilin LCA5 gene DOID:0110215 Leber congenital amaurosis 5 ISO RGD:1318396 D RGD:7240710 20180130 OMIM 12028933 LCA5 lebercilin LCA5 gene DOID:0110215 Leber congenital amaurosis 5 ISO RGD:1318396 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 5 PMID:10631161|PMID:12642313|PMID:16123401|PMID:16199547|PMID:17546029|PMID:17576681|PMID:18000884|PMID:19503738|PMID:20301475|PMID:21606596|PMID:23661368|PMID:23946133|PMID:24144451|PMID:24265693|PMID:24474277|PMID:25356970|PMID:25412400|PMID:25741868|PMID:26352687|PMID:27624628|PMID:28041643|PMID:28418496|PMID:28492532|PMID:32214227|PMID:32531858|PMID:33776059|PMID:8571951|PMID:9536098 12028933 LCA5 lebercilin LCA5 gene DOID:10584 retinitis pigmentosa ISO RGD:1318396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17546029|PMID:23946133|PMID:24265693|PMID:25741868|PMID:28492532|PMID:32531858|PMID:33776059 12028933 LCA5 lebercilin LCA5 gene DOID:1432 blindness ISO RGD:1318396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17546029 12028933 LCA5 lebercilin LCA5 gene DOID:14791 Leber congenital amaurosis ISO RGD:1318396 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:12642313|PMID:17546029|PMID:17576681|PMID:19503738|PMID:20301475|PMID:21606596|PMID:23946133|PMID:25356970|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26352687|PMID:27624628|PMID:28041643|PMID:28418496|PMID:28492532|PMID:31456290|PMID:32531858|PMID:8571951|PMID:9536098 12028933 LCA5 lebercilin LCA5 gene DOID:630 genetic disease ISO RGD:1318396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17546029|PMID:19503738|PMID:20301475|PMID:21606596|PMID:23946133|PMID:25356970|PMID:25412400|PMID:25741868|PMID:28041643|PMID:28492532|PMID:8571951 12028933 LCA5 lebercilin LCA5 gene DOID:8501 fundus dystrophy ISO RGD:1318396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:17546029|PMID:19503738|PMID:20301475|PMID:21606596|PMID:23946133|PMID:25356970|PMID:25412400|PMID:25741868|PMID:27624628|PMID:28041643|PMID:28492532|PMID:8571951 12028933 LCA5 lebercilin LCA5 gene DOID:9269 maple syrup urine disease ISO RGD:1318396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:16786533|PMID:22593002|PMID:24571530|PMID:28492532 12028945 NRIP1 nuclear receptor interacting protein 1 gene DOID:0080205 CAKUT ISO RGD:1323522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:28381549|PMID:30143558 12028945 NRIP1 nuclear receptor interacting protein 1 gene DOID:0080600 COVID-19 ISO RGD:1323522 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12028945 NRIP1 nuclear receptor interacting protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:1323522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 12028945 NRIP1 nuclear receptor interacting protein 1 gene DOID:11476 osteoporosis ISO RGD:1323522 D RGD:9068941 20200609 RGD DNA:silent mutation, haplotype:p.G75G (human) PMID:16530497|REF_RGD_ID:10045825 12028945 NRIP1 nuclear receptor interacting protein 1 gene DOID:2843 long QT syndrome ISO RGD:1323522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12028945 NRIP1 nuclear receptor interacting protein 1 gene DOID:5419 schizophrenia ISO RGD:1323522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 12028945 NRIP1 nuclear receptor interacting protein 1 gene DOID:5844 myocardial infarction ISO RGD:1323522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22503866 12028945 NRIP1 nuclear receptor interacting protein 1 gene DOID:6000 congestive heart failure ISO RGD:1323522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22503866 12028945 NRIP1 nuclear receptor interacting protein 1 gene DOID:630 genetic disease ISO RGD:1323522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12028945 NRIP1 nuclear receptor interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12028945 NRIP1 nuclear receptor interacting protein 1 gene DOID:9004914 Postmenopausal Osteoporosis susceptibility ISO RGD:1323522 D RGD:9068941 20200609 RGD DNA:silent mutation:cds:p.G75G (human) PMID:22335445|REF_RGD_ID:10045849 12028945 NRIP1 nuclear receptor interacting protein 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1323522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27348297 12028945 NRIP1 nuclear receptor interacting protein 1 gene DOID:9008581 CAKUT3 ISO RGD:1323522 D RGD:7240710 20190315 OMIM 12028945 NRIP1 nuclear receptor interacting protein 1 gene DOID:9008581 CAKUT3 ISO RGD:1323522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 3 PMID:25741868|PMID:28381549|PMID:28492532|PMID:30143558 12028945 NRIP1 nuclear receptor interacting protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1323522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22267197 12028957 NAP1L4 nucleosome assembly protein 1 like 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1313394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12028957 NAP1L4 nucleosome assembly protein 1 like 4 gene DOID:0080773 delta beta-thalassemia ISO RGD:1313394 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12028957 NAP1L4 nucleosome assembly protein 1 like 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1313394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12028957 NAP1L4 nucleosome assembly protein 1 like 4 gene DOID:630 genetic disease ISO RGD:1313394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028957 NAP1L4 nucleosome assembly protein 1 like 4 gene DOID:9002669 Hypoxia ISO RGD:1305391 D RGD:9068941 20200609 RGD protein:decreased dimerization:hippocampus (rat) PMID:24893663|REF_RGD_ID:9590077 12028994 AGT angiotensinogen gene DOID:0050589 inflammatory bowel disease ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M235T (human) PMID:20717043|REF_RGD_ID:11039049 12028994 AGT angiotensinogen gene DOID:0050700 cardiomyopathy ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12145768 12028994 AGT angiotensinogen gene DOID:0060224 atrial fibrillation ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotypes:promoter:multiple PMID:18239384|REF_RGD_ID:8548862 12028994 AGT angiotensinogen gene DOID:0060903 thrombosis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11881036|PMID:21501650 12028994 AGT angiotensinogen gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:731070 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 12028994 AGT angiotensinogen gene DOID:0080322 polycystic kidney disease ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:20798958|REF_RGD_ID:12879406 12028994 AGT angiotensinogen gene DOID:0080600 COVID-19 ISO RGD:731070 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:32048163 12028994 AGT angiotensinogen gene DOID:10591 pre-eclampsia ISO RGD:731070 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Preeclampsia, susceptibility to PMID:1394429|PMID:16059745|PMID:25741868|PMID:28492532|PMID:7649545|PMID:7883995|PMID:8348146|PMID:8513325|PMID:8518804|PMID:9259580|PMID:9421481|PMID:9831339 12028994 AGT angiotensinogen gene DOID:10603 glucose intolerance ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26704350 12028994 AGT angiotensinogen gene DOID:10652 Alzheimer's disease ISO RGD:731070 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:21297254|REF_RGD_ID:5129180 12028994 AGT angiotensinogen gene DOID:1073 renal hypertension ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8763405 12028994 AGT angiotensinogen gene DOID:1074 kidney failure ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9259580 12028994 AGT angiotensinogen gene DOID:10763 hypertension ISO RGD:731070 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hypertension PMID:1394429|PMID:16059745|PMID:25741868|PMID:28492532|PMID:7649545|PMID:7883995|PMID:8348146|PMID:8513325|PMID:8518804|PMID:9259580|PMID:9421481|PMID:9831339 12028994 AGT angiotensinogen gene DOID:10763 hypertension no_association ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-6G>A, p.M235T, p.T174M PMID:16514903|REF_RGD_ID:1601143 12028994 AGT angiotensinogen gene DOID:10763 hypertension susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M235T PMID:17334527|REF_RGD_ID:1601130 12028994 AGT angiotensinogen gene DOID:10763 hypertension susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-20C>A (human) PMID:17161775|REF_RGD_ID:1601139 12028994 AGT angiotensinogen gene DOID:10763 hypertension susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.T174M, p.M235T (human) PMID:16739866|REF_RGD_ID:1601141 12028994 AGT angiotensinogen gene DOID:10763 hypertension treatment ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:19932924|REF_RGD_ID:8549469 12028994 AGT angiotensinogen gene DOID:10808 gastric ulcer treatment ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:24231511|REF_RGD_ID:11039418 12028994 AGT angiotensinogen gene DOID:10824 malignant hypertension ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2493837|PMID:27428043 12028994 AGT angiotensinogen gene DOID:10825 essential hypertension ISO RGD:731070 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Essential hypertension, genetic | ClinVar Annotator: match by term: Hypertension, essential, susceptibility to PMID:12743009|PMID:13937884|PMID:1394429|PMID:15077204|PMID:16059745|PMID:17047091|PMID:20978123|PMID:24452034|PMID:25278896|PMID:25741868|PMID:28492532|PMID:35005812|PMID:7649545|PMID:7883995|PMID:8348146|PMID:8513325|PMID:8518804|PMID:9120024|PMID:9259580|PMID:9421481|PMID:9831339|PMID:9894356 12028994 AGT angiotensinogen gene DOID:10907 microcephaly ISO RGD:731070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12028994 AGT angiotensinogen gene DOID:11049 meconium aspiration syndrome ISO RGD:2069 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:14605247|REF_RGD_ID:11039054 12028994 AGT angiotensinogen gene DOID:11111 hydronephrosis ISO RGD:10118 D RGD:9068941 20200609 RGD PMID:12399452|REF_RGD_ID:1300273 12028994 AGT angiotensinogen gene DOID:11111 hydronephrosis treatment ISO RGD:731070 D RGD:9068941 20200609 RGD PMID:12399452|REF_RGD_ID:1300273 12028994 AGT angiotensinogen gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.M235T (human) PMID:16521052|REF_RGD_ID:11039045 12028994 AGT angiotensinogen gene DOID:11123 Henoch-Schoenlein purpura severity ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.T174M (human) PMID:20702504|REF_RGD_ID:11039055 12028994 AGT angiotensinogen gene DOID:11382 corneal neovascularization ISO RGD:10118 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cornea PMID:18829859|REF_RGD_ID:8548897 12028994 AGT angiotensinogen gene DOID:11396 pulmonary edema ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M235T (human) PMID:21393362|REF_RGD_ID:5129160 12028994 AGT angiotensinogen gene DOID:114 heart disease ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19373235 12028994 AGT angiotensinogen gene DOID:11446 sciatic neuropathy ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:20886512|REF_RGD_ID:5129198 12028994 AGT angiotensinogen gene DOID:11563 retinal vasculitis ISO RGD:10118 D RGD:9068941 20200609 RGD PMID:19834028|REF_RGD_ID:11039401 12028994 AGT angiotensinogen gene DOID:11716 prediabetes syndrome ISO RGD:2069 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;mRNA, protein:increased expression:kidney PMID:23322513|REF_RGD_ID:8549461 12028994 AGT angiotensinogen gene DOID:11984 hypertrophic cardiomyopathy no_association ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.T174M, p.M235T (human) PMID:9270088|REF_RGD_ID:1566491 12028994 AGT angiotensinogen gene DOID:11984 hypertrophic cardiomyopathy susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.M235T(human) PMID:9023164|REF_RGD_ID:13432163 12028994 AGT angiotensinogen gene DOID:1205 allergic disease susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M235T (human) PMID:10200023|REF_RGD_ID:8142344 12028994 AGT angiotensinogen gene DOID:12185 otosclerosis ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.M235T (human) PMID:18491423|REF_RGD_ID:8548860 12028994 AGT angiotensinogen gene DOID:12185 otosclerosis no_association ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.M235T (rs699) (human) PMID:19503013|REF_RGD_ID:8548871 12028994 AGT angiotensinogen gene DOID:12215 oligohydramnios ISO RGD:731070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anhydramnios PMID:25741868|PMID:35005812 12028994 AGT angiotensinogen gene DOID:12236 primary biliary cholangitis ISO RGD:2069 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17532087|REF_RGD_ID:9685452 12028994 AGT angiotensinogen gene DOID:12351 alcoholic hepatitis ISO RGD:731070 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:17258719|REF_RGD_ID:1601135 12028994 AGT angiotensinogen gene DOID:1287 cardiovascular system disease ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16544732 12028994 AGT angiotensinogen gene DOID:1287 cardiovascular system disease no_association ISO RGD:731070 D RGD:9068941 20200609 RGD PMID:8523390|REF_RGD_ID:1566492 12028994 AGT angiotensinogen gene DOID:12930 dilated cardiomyopathy no_association ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.T174M, p.M235T (human) PMID:9270088|REF_RGD_ID:1566491 12028994 AGT angiotensinogen gene DOID:12930 dilated cardiomyopathy treatment ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:22120037|REF_RGD_ID:8549486 12028994 AGT angiotensinogen gene DOID:12932 endomyocardial fibrosis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20837116|PMID:25139994|PMID:25488910|PMID:27099261|PMID:30703374 12028994 AGT angiotensinogen gene DOID:12935 alcoholic cardiomyopathy ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22497828 12028994 AGT angiotensinogen gene DOID:13025 retinopathy of prematurity ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15387897 12028994 AGT angiotensinogen gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:21357516|REF_RGD_ID:5129175 12028994 AGT angiotensinogen gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19858406 12028994 AGT angiotensinogen gene DOID:13580 cholestasis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 12028994 AGT angiotensinogen gene DOID:13884 sick sinus syndrome ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-6G>A (human) PMID:22242192|REF_RGD_ID:8548870 12028994 AGT angiotensinogen gene DOID:13994 cleidocranial dysplasia ISO RGD:731070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Large fontanelles PMID:25741868|PMID:35005812 12028994 AGT angiotensinogen gene DOID:14499 Fabry disease severity ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: PMID:24020479|REF_RGD_ID:13432161 12028994 AGT angiotensinogen gene DOID:1540 parathyroid carcinoma ISO RGD:731070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12028994 AGT angiotensinogen gene DOID:1561 cognitive disorder ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22982863 12028994 AGT angiotensinogen gene DOID:1580 diffuse scleroderma ISO RGD:731070 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14730619|REF_RGD_ID:8548886 12028994 AGT angiotensinogen gene DOID:1612 breast cancer ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotypes: :p.T174M, p.M235T (human) PMID:23828384|REF_RGD_ID:8548866 12028994 AGT angiotensinogen gene DOID:1612 breast cancer ISO RGD:731070 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:23374911|REF_RGD_ID:8548901 12028994 AGT angiotensinogen gene DOID:1612 breast cancer susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M235T (human) PMID:16823505|REF_RGD_ID:8548861 12028994 AGT angiotensinogen gene DOID:178 vascular disease ISO RGD:731070 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:29706566 12028994 AGT angiotensinogen gene DOID:1875 impotence treatment ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:17616753|REF_RGD_ID:8548892 12028994 AGT angiotensinogen gene DOID:1936 atherosclerosis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21925196|PMID:22539767 12028994 AGT angiotensinogen gene DOID:1936 atherosclerosis treatment ISO RGD:2069 D RGD:9068941 20200609 RGD associated with Hypertension PMID:22977667|REF_RGD_ID:8549467 12028994 AGT angiotensinogen gene DOID:2018 hyperinsulinism ISO RGD:731070 D RGD:9068941 20200609 RGD associated with obesity;DNA:polymorphism: :p.M235T PMID:16713443|REF_RGD_ID:1601142 12028994 AGT angiotensinogen gene DOID:224 transient cerebral ischemia ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:21934531|REF_RGD_ID:8549480 12028994 AGT angiotensinogen gene DOID:2355 anemia ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3524928 12028994 AGT angiotensinogen gene DOID:2377 multiple sclerosis ISO RGD:731070 D RGD:9068941 20200609 RGD protein:decreased expression:brain,astrocyte: PMID:17715340|REF_RGD_ID:13432361 12028994 AGT angiotensinogen gene DOID:2527 nephrosis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2046802 12028994 AGT angiotensinogen gene DOID:2921 glomerulonephritis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11459117 12028994 AGT angiotensinogen gene DOID:2921 glomerulonephritis disease_progression ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:15888567|REF_RGD_ID:13432360 12028994 AGT angiotensinogen gene DOID:2983 anuria ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8527259 12028994 AGT angiotensinogen gene DOID:2986 IgA glomerulonephritis ISO RGD:731070 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Susceptibility to progression to renal failure in IgA nephropathy PMID:1394429|PMID:16059745|PMID:25741868|PMID:28492532|PMID:7649545|PMID:7883995|PMID:8348146|PMID:8513325|PMID:8518804|PMID:9259580|PMID:9421481|PMID:9831339 12028994 AGT angiotensinogen gene DOID:3328 temporal lobe epilepsy ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:22542773|REF_RGD_ID:8549466 12028994 AGT angiotensinogen gene DOID:3407 carotid artery disease ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12911327 12028994 AGT angiotensinogen gene DOID:3407 carotid artery disease susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M235T PMID:17220293|REF_RGD_ID:1601136 12028994 AGT angiotensinogen gene DOID:3525 middle cerebral artery infarction ISO RGD:2069 D RGD:9068941 20200609 RGD protein:increased expression:brain, serum PMID:24090950|REF_RGD_ID:9685436 12028994 AGT angiotensinogen gene DOID:3627 aortic aneurysm ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21925196 12028994 AGT angiotensinogen gene DOID:3770 pulmonary fibrosis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28960804|PMID:31181250 12028994 AGT angiotensinogen gene DOID:3770 pulmonary fibrosis treatment ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:24168260|REF_RGD_ID:11039408 12028994 AGT angiotensinogen gene DOID:418 systemic scleroderma ISO RGD:731070 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:17360781|REF_RGD_ID:8548889 12028994 AGT angiotensinogen gene DOID:4500 hypokalemia ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7182184 12028994 AGT angiotensinogen gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:2069 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, plasma PMID:7550093|REF_RGD_ID:11039051 12028994 AGT angiotensinogen gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:2069 D RGD:9068941 20200609 RGD protein:increased expression:kidney, urine PMID:21282555|REF_RGD_ID:5129185 12028994 AGT angiotensinogen gene DOID:5082 liver cirrhosis ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:21873937|REF_RGD_ID:8549465 12028994 AGT angiotensinogen gene DOID:5082 liver cirrhosis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15613622 12028994 AGT angiotensinogen gene DOID:5199 ureteral obstruction ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26207612 12028994 AGT angiotensinogen gene DOID:552 pneumonia ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28960804 12028994 AGT angiotensinogen gene DOID:557 kidney disease ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12414515|PMID:15213268|PMID:17989111|PMID:21896938|PMID:31098697 12028994 AGT angiotensinogen gene DOID:576 proteinuria ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12937228|PMID:17890855|PMID:2046802|PMID:25398788|PMID:464098|PMID:9259580 12028994 AGT angiotensinogen gene DOID:5844 myocardial infarction ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:21167013|REF_RGD_ID:5129191 12028994 AGT angiotensinogen gene DOID:5844 myocardial infarction ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16413583|PMID:1668233 12028994 AGT angiotensinogen gene DOID:5844 myocardial infarction ISO RGD:731070 D RGD:9068941 20200609 RGD associated with Coronary Artery Disease;DNA:polymorphism: :p.M235T (human) PMID:11393670|REF_RGD_ID:1566452 12028994 AGT angiotensinogen gene DOID:5844 myocardial infarction susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD associated with hypertension;DNA:polymorphism: :p.M235T PMID:17299437|REF_RGD_ID:1601132 12028994 AGT angiotensinogen gene DOID:6000 congestive heart failure ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12025466|PMID:1330361|PMID:20811386 12028994 AGT angiotensinogen gene DOID:6000 congestive heart failure onset ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.M235T, p.T174M (human) PMID:17145981|REF_RGD_ID:1601140 12028994 AGT angiotensinogen gene DOID:6000 congestive heart failure severity ISO RGD:731070 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:24465706|REF_RGD_ID:11039412 12028994 AGT angiotensinogen gene DOID:6000 congestive heart failure treatment ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:21963897|REF_RGD_ID:8549482 12028994 AGT angiotensinogen gene DOID:630 genetic disease ISO RGD:731070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12028994 AGT angiotensinogen gene DOID:6432 pulmonary hypertension ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:21381494|REF_RGD_ID:5129162 12028994 AGT angiotensinogen gene DOID:6713 cerebrovascular disease susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M235T PMID:17220293|REF_RGD_ID:1601136 12028994 AGT angiotensinogen gene DOID:7693 abdominal aortic aneurysm ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16514081|PMID:20937366|PMID:22539767|PMID:25301841|PMID:30354818 12028994 AGT angiotensinogen gene DOID:8552 chronic myeloid leukemia ISO RGD:731070 D RGD:9068941 20200609 RGD PMID:19761684|REF_RGD_ID:11039056 12028994 AGT angiotensinogen gene DOID:8778 Crohn's disease ISO RGD:731070 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Crohn disease, association with PMID:12743009|PMID:13937884|PMID:15077204|PMID:17047091|PMID:20978123|PMID:9120024|PMID:9894356 12028994 AGT angiotensinogen gene DOID:8805 intermediate coronary syndrome ISO RGD:731070 D RGD:9068941 20200609 RGD mRNA:increased expression:myocardium PMID:11451295|REF_RGD_ID:8548894 12028994 AGT angiotensinogen gene DOID:8923 skin melanoma ISO RGD:731070 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19394758|REF_RGD_ID:8548874 12028994 AGT angiotensinogen gene DOID:8947 diabetic retinopathy ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15387897 12028994 AGT angiotensinogen gene DOID:8947 diabetic retinopathy ISO RGD:731070 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:polymorphism: :p.M235T (human) PMID:10862638|REF_RGD_ID:8548872 12028994 AGT angiotensinogen gene DOID:8947 diabetic retinopathy treatment ISO RGD:10118 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21792177|REF_RGD_ID:8548900 12028994 AGT angiotensinogen gene DOID:8947 diabetic retinopathy treatment ISO RGD:2069 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21792177|REF_RGD_ID:8548900 12028994 AGT angiotensinogen gene DOID:9000040 Hypertrophy ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12054679|PMID:12237323|PMID:18785976|PMID:21071431|PMID:24039778|PMID:26955731 12028994 AGT angiotensinogen gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1654493|PMID:2535056 12028994 AGT angiotensinogen gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:2069 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:type I cell of carotid body PMID:24036592|REF_RGD_ID:11039031 12028994 AGT angiotensinogen gene DOID:9000784 Fibrosis ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:21367774|REF_RGD_ID:5129174 12028994 AGT angiotensinogen gene DOID:9000784 Fibrosis ISO RGD:731070 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:12414515|PMID:18785976|PMID:19373235|PMID:25398788|PMID:25807386|PMID:26648693|PMID:30634441|PMID:33676887 12028994 AGT angiotensinogen gene DOID:9000815 Aortic Calcification ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:23291307|REF_RGD_ID:8549476 12028994 AGT angiotensinogen gene DOID:9001189 Drug Overdose ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8527259 12028994 AGT angiotensinogen gene DOID:9001542 Albuminuria ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12414515|PMID:18679781|PMID:21896938 12028994 AGT angiotensinogen gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12667390 12028994 AGT angiotensinogen gene DOID:9001650 Pregnancy-Induced Hypertension ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:17977916|REF_RGD_ID:8548898 12028994 AGT angiotensinogen gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24688123|PMID:29353218|PMID:30703374 12028994 AGT angiotensinogen gene DOID:9002165 Diabetic Nephropathies ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17890855|PMID:20383342 12028994 AGT angiotensinogen gene DOID:9002165 Diabetic Nephropathies ISO RGD:731070 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:polymorphism: :p.M235T (human) PMID:10862638|PMID:8772723|REF_RGD_ID:8548868|REF_RGD_ID:8548872 12028994 AGT angiotensinogen gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:731070 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphism: :p.M235T (human) PMID:19014923|REF_RGD_ID:11039058 12028994 AGT angiotensinogen gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:731070 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphism: :p.M235T (human) PMID:11938025|REF_RGD_ID:8548885 12028994 AGT angiotensinogen gene DOID:9002211 Hyperalgesia ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9613798 12028994 AGT angiotensinogen gene DOID:9002231 Fetal Growth Retardation ISO RGD:2069 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney,urine: PMID:26270574|REF_RGD_ID:11538508 12028994 AGT angiotensinogen gene DOID:9002231 Fetal Growth Retardation ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17537837 12028994 AGT angiotensinogen gene DOID:9002231 Fetal Growth Retardation ISO RGD:731070 D RGD:9068941 20200609 RGD PMID:20530295|REF_RGD_ID:13432363 12028994 AGT angiotensinogen gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26954031 12028994 AGT angiotensinogen gene DOID:9002371 Cardiotoxicity ISO RGD:731070 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33676887 12028994 AGT angiotensinogen gene DOID:9002514 Neointima ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19258495|PMID:29609002 12028994 AGT angiotensinogen gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25807386 12028994 AGT angiotensinogen gene DOID:9003191 Vascular Malformations ISO RGD:731070 D RGD:9068941 20221111 RGD protein:increased expression:intestine: PMID:24219762|REF_RGD_ID:155663361 12028994 AGT angiotensinogen gene DOID:9003191 Vascular Malformations ISO RGD:731070 D RGD:9068941 20221111 RGD protein:increased expression:serum: PMID:21955427|REF_RGD_ID:155663363 12028994 AGT angiotensinogen gene DOID:9003234 Hypertensive Nephropathy treatment ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:22089474|REF_RGD_ID:8548895 12028994 AGT angiotensinogen gene DOID:9003805 Catalepsy ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1034924 12028994 AGT angiotensinogen gene DOID:9003936 Cardiomegaly ISO RGD:10118 D RGD:9068941 20200609 RGD PMID:19779471|REF_RGD_ID:8548902 12028994 AGT angiotensinogen gene DOID:9003936 Cardiomegaly ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:21367774|PMID:24342267|REF_RGD_ID:11039415|REF_RGD_ID:5129174 12028994 AGT angiotensinogen gene DOID:9003936 Cardiomegaly ISO RGD:731070 D RGD:9068941 20221208 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11403367|PMID:15226216|PMID:15851630|PMID:15870116|PMID:17124262|PMID:18400235|PMID:19794523|PMID:20190099|PMID:20409916|PMID:20429690|PMID:20616315|PMID:20811386|PMID:22291909|PMID:22335191|PMID:24342267|PMID:25139994|PMID:25488910|PMID:27099261|PMID:29353218|PMID:30634441|PMID:30703374|PMID:31016362|PMID:35510648 12028994 AGT angiotensinogen gene DOID:9003936 Cardiomegaly treatment ISO RGD:10118 D RGD:9068941 20221111 RGD PMID:23188126|REF_RGD_ID:155663352 12028994 AGT angiotensinogen gene DOID:9004009 Reperfusion Injury ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23875703 12028994 AGT angiotensinogen gene DOID:9004306 Peptic Ulcer Hemorrhage ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20824505 12028994 AGT angiotensinogen gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10805403|PMID:14644620|PMID:14751847|PMID:18679781|PMID:20837116|PMID:24688123|PMID:31016362 12028994 AGT angiotensinogen gene DOID:9004771 Vascular Remodeling ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25259750|PMID:27678262 12028994 AGT angiotensinogen gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:10118 D RGD:9068941 20200609 RGD PMID:20837666|REF_RGD_ID:5129167 12028994 AGT angiotensinogen gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:20837666|REF_RGD_ID:5129167 12028994 AGT angiotensinogen gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:731070 D RGD:9068941 20200609 RGD PMID:20837666|REF_RGD_ID:5129167 12028994 AGT angiotensinogen gene DOID:9005372 Inflammation ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15944212|PMID:16868307|PMID:27436852|PMID:29353218 12028994 AGT angiotensinogen gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15831366|PMID:17177138|PMID:18829990 12028994 AGT angiotensinogen gene DOID:9005749 Necrosis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606818|PMID:1535655 12028994 AGT angiotensinogen gene DOID:9006024 Hypotension ISO RGD:10118 D RGD:9068941 20200609 RGD PMID:9466969|REF_RGD_ID:737778 12028994 AGT angiotensinogen gene DOID:9006024 Hypotension ISO RGD:731070 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:30634441|PMID:3078272|PMID:8527259|PMID:9323291 12028994 AGT angiotensinogen gene DOID:9006045 Dissecting Aneurysm ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17502491 12028994 AGT angiotensinogen gene DOID:9006137 Renal Tubular Dysgenesis ISO RGD:731070 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Renal tubular dysgenesis PMID:11770813|PMID:12743009|PMID:13937884|PMID:1394429|PMID:15077204|PMID:16059745|PMID:16116425|PMID:17036344|PMID:17047091|PMID:20978123|PMID:22095942|PMID:23497386|PMID:24452034|PMID:25278896|PMID:25741868|PMID:28492532|PMID:7607642|PMID:7649545|PMID:7744780|PMID:7883995|PMID:8348146|PMID:8513325|PMID:8518804|PMID:9120024|PMID:9259580|PMID:9403548|PMID:9421481|PMID:9831339|PMID:9894356 12028994 AGT angiotensinogen gene DOID:9006646 Metabolic Syndrome ISO RGD:2069 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:adipose tissue PMID:17260464|REF_RGD_ID:1601134 12028994 AGT angiotensinogen gene DOID:9006832 Puromycin Aminonucleoside Nephrosis ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:8446257|REF_RGD_ID:11039400 12028994 AGT angiotensinogen gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29353218 12028994 AGT angiotensinogen gene DOID:9007001 Bradycardia ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9519251 12028994 AGT angiotensinogen gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:731070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 12028994 AGT angiotensinogen gene DOID:9007096 Stroke susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD associated with hypertension;DNA:polymorphism: :p.M235T PMID:17299437|REF_RGD_ID:1601132 12028994 AGT angiotensinogen gene DOID:9007096 Stroke susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD associated with sickle cell anemia;DNA:repeat:exon: PMID:11754397|REF_RGD_ID:11039048 12028994 AGT angiotensinogen gene DOID:9007102 Myocardial Ischemia ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16775501 12028994 AGT angiotensinogen gene DOID:9007174 Ventricular Remodeling ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29353218 12028994 AGT angiotensinogen gene DOID:9007278 Anaphylaxis ISO RGD:731070 D RGD:9068941 20200609 RGD PMID:1422942|REF_RGD_ID:8548893 12028994 AGT angiotensinogen gene DOID:9007331 Alkalosis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7182184 12028994 AGT angiotensinogen gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29499335 12028994 AGT angiotensinogen gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:2069 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15001561|REF_RGD_ID:13515113 12028994 AGT angiotensinogen gene DOID:9007820 Sudden Death ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17502491 12028994 AGT angiotensinogen gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19166939|PMID:2535056 12028994 AGT angiotensinogen gene DOID:9007908 Aortic Coarctation treatment ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.704T>C (human) PMID:21450583|REF_RGD_ID:13432358 12028994 AGT angiotensinogen gene DOID:9008217 Hemorrhage ISO RGD:731070 D RGD:9068941 20200609 RGD associated with Premature Birth;DNA:polymorphism:promoter:-6G>A (human) PMID:19733287|REF_RGD_ID:11039046 12028994 AGT angiotensinogen gene DOID:9009039 Hyperemia ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15815331 12028994 AGT angiotensinogen gene DOID:9009073 Diaphragmatic Hernia ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16292651 12028994 AGT angiotensinogen gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12028994 AGT angiotensinogen gene DOID:9279 hyperhomocysteinemia ISO RGD:731070 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:24386282 12028994 AGT angiotensinogen gene DOID:9352 type 2 diabetes mellitus ISO RGD:731070 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:smooth muscle cell, carotid artery PMID:17170378|REF_RGD_ID:1601138 12028994 AGT angiotensinogen gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.T174M, p.M235T (human) PMID:9258285|REF_RGD_ID:8548863 12028994 AGT angiotensinogen gene DOID:988 mitral valve prolapse severity ISO RGD:731070 D RGD:9068941 20200609 RGD associated with Marfan Syndrome;DNA:haplotype:cds: p.M235T(human) PMID:17379330|REF_RGD_ID:13432357 12028994 AGT angiotensinogen gene DOID:9970 obesity ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M235T PMID:16713443|REF_RGD_ID:1601142 12028994 AGT angiotensinogen gene DOID:9970 obesity susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.T174M PMID:16514903|REF_RGD_ID:1601143 12029003 PDE6C phosphodiesterase 6C gene DOID:0050572 cone-rod dystrophy ISO RGD:1320406 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive PMID:28492532 12029003 PDE6C phosphodiesterase 6C gene DOID:0050795 cone dystrophy ISO RGD:1320406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy 12029003 PDE6C phosphodiesterase 6C gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:1320406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:24206907|PMID:28492532 12029003 PDE6C phosphodiesterase 6C gene DOID:13911 achromatopsia ISO RGD:1320406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:10393054|PMID:16199547|PMID:17576681|PMID:18614542|PMID:19615668|PMID:19887631|PMID:23776498|PMID:25741868|PMID:26103963|PMID:28041643|PMID:28492532|PMID:28704108|PMID:30080950|PMID:33001157|PMID:33546218|PMID:9536098 12029003 PDE6C phosphodiesterase 6C gene DOID:630 genetic disease ISO RGD:1320406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12029003 PDE6C phosphodiesterase 6C gene DOID:670 amphetamine abuse ISO RGD:1320406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12029003 PDE6C phosphodiesterase 6C gene DOID:8501 fundus dystrophy ISO RGD:1320406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:19887631|PMID:23776498|PMID:26103963|PMID:28492532|PMID:30080950 12029003 PDE6C phosphodiesterase 6C gene DOID:9007377 Achromatopsia 5 ISO RGD:1320406 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Achromatopsia 5 PMID:16199547|PMID:19615668|PMID:19887631|PMID:21127010|PMID:23776498|PMID:25741868|PMID:26103963|PMID:28492532|PMID:30080950 12029003 PDE6C phosphodiesterase 6C gene DOID:9008296 Eye Abnormalities ISO RGD:1320406 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868 12029003 PDE6C phosphodiesterase 6C gene DOID:9008571 Cone Dystrophy 4 ISO RGD:1320406 D RGD:7240710 20180130 OMIM 12029003 PDE6C phosphodiesterase 6C gene DOID:9008571 Cone Dystrophy 4 ISO RGD:1320406 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cone dystrophy 4 PMID:10393054|PMID:16199547|PMID:17576681|PMID:18614542|PMID:19615668|PMID:19887631|PMID:21127010|PMID:23776498|PMID:25326637|PMID:25741868|PMID:26103963|PMID:27124789|PMID:28041643|PMID:28492532|PMID:30080950|PMID:33001157|PMID:33546218|PMID:9536098 12029027 SMOC2 SPARC related modular calcium binding 2 gene DOID:5419 schizophrenia ISO RGD:1315436 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12029027 SMOC2 SPARC related modular calcium binding 2 gene DOID:630 genetic disease ISO RGD:1315436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12029027 SMOC2 SPARC related modular calcium binding 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315436 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12029027 SMOC2 SPARC related modular calcium binding 2 gene DOID:9003504 Dentin Dysplasia, Type 1 ISO RGD:1315436 D RGD:7240710 20180130 OMIM 12029027 SMOC2 SPARC related modular calcium binding 2 gene DOID:9003504 Dentin Dysplasia, Type 1 ISO RGD:1315436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dentin dysplasia type I | ClinVar Annotator: match by term: Dentin dysplasia, type I, with extreme microdontia and misshapen teeth PMID:22152679|PMID:23317772|PMID:25741868 12029046 PRSS37 serine protease 37 gene DOID:0080690 RASopathy ISO RGD:1604236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12029046 PRSS37 serine protease 37 gene DOID:630 genetic disease ISO RGD:1604236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12029046 PRSS37 serine protease 37 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1604236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 12029063 TEKT1 tektin 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:732609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12029063 TEKT1 tektin 1 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:732609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 12029063 TEKT1 tektin 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:732609 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12029063 TEKT1 tektin 1 gene DOID:12177 common variable immunodeficiency ISO RGD:732609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12029063 TEKT1 tektin 1 gene DOID:2729 dyskeratosis congenita ISO RGD:732609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12029063 TEKT1 tektin 1 gene DOID:630 genetic disease ISO RGD:732609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12029090 SMG1 SMG1 nonsense mediated mRNA decay associated PI3K related kinase gene DOID:630 genetic disease ISO RGD:1602127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12029120 C18H18orf63 chromosome 18 C18orf63 homolog gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:5132403 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12029120 C18H18orf63 chromosome 18 C18orf63 homolog gene DOID:630 genetic disease ISO RGD:5132403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12029120 C18H18orf63 chromosome 18 C18orf63 homolog gene DOID:6420 pulmonary valve stenosis ISO RGD:5132403 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12029120 C18H18orf63 chromosome 18 C18orf63 homolog gene DOID:8445 intestinal volvulus ISO RGD:5132403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12029120 C18H18orf63 chromosome 18 C18orf63 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:5132403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12029120 C18H18orf63 chromosome 18 C18orf63 homolog gene DOID:9008419 Volvulus Of Midgut ISO RGD:5132403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12029139 MPC1 mitochondrial pyruvate carrier 1 gene DOID:0080363 mitochondrial pyruvate carrier deficiency ISO RGD:1352706 D RGD:7240710 20180130 OMIM 12029139 MPC1 mitochondrial pyruvate carrier 1 gene DOID:0080363 mitochondrial pyruvate carrier deficiency ISO RGD:1352706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial pyruvate carrier deficiency PMID:12649063|PMID:22628558|PMID:25741868 12029139 MPC1 mitochondrial pyruvate carrier 1 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1352706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 12029139 MPC1 mitochondrial pyruvate carrier 1 gene DOID:303 substance-related disorder ISO RGD:1352706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12029139 MPC1 mitochondrial pyruvate carrier 1 gene DOID:630 genetic disease ISO RGD:1352706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12029152 PNMA5 PNMA family member 5 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1347764 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12029152 PNMA5 PNMA family member 5 gene DOID:0050476 Barth syndrome ISO RGD:1347764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12029152 PNMA5 PNMA family member 5 gene DOID:0050800 creatine transporter deficiency ISO RGD:1347764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12029152 PNMA5 PNMA family member 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12029152 PNMA5 PNMA family member 5 gene DOID:10588 adrenoleukodystrophy ISO RGD:1347764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12029152 PNMA5 PNMA family member 5 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1347764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12029152 PNMA5 PNMA family member 5 gene DOID:12849 autistic disorder ISO RGD:1347764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12029152 PNMA5 PNMA family member 5 gene DOID:13628 favism ISO RGD:1347764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12029152 PNMA5 PNMA family member 5 gene DOID:2729 dyskeratosis congenita ISO RGD:1347764 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12029152 PNMA5 PNMA family member 5 gene DOID:607 paraplegia ISO RGD:1347764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12029152 PNMA5 PNMA family member 5 gene DOID:630 genetic disease ISO RGD:1347764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12029165 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1343590 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12029165 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:0050476 Barth syndrome ISO RGD:1343590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12029165 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:0050800 creatine transporter deficiency ISO RGD:1343590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12029165 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:0060292 X-linked chondrodysplasia punctata 1 ISO RGD:1550149 D RGD:9068941 20220825 MouseDO OMIM:302950 | OMIM:302960 12029165 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12029165 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:0111822 CHILD syndrome ISO RGD:1343590 D RGD:7240710 20180130 OMIM 12029165 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:0111822 CHILD syndrome ISO RGD:1343590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Child syndrome PMID:10710235|PMID:11907515|PMID:12966526|PMID:14527740|PMID:15689440|PMID:18414213|PMID:18825599|PMID:19906044|PMID:21290788|PMID:25093865|PMID:25741868|PMID:26459993|PMID:28492532 12029165 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:0111898 CK syndrome ISO RGD:1343590 D RGD:7240710 20180130 OMIM 12029165 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:0111898 CK syndrome ISO RGD:1343590 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CK syndrome PMID:18414213|PMID:19377476|PMID:21129721|PMID:21290788|PMID:25741868|PMID:28492532 12029165 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:10588 adrenoleukodystrophy ISO RGD:1343590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12029165 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:1059 intellectual disability ISO RGD:1343590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12029165 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12029165 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:12305 Bloch-Sulzberger syndrome ISO RGD:1550149 D RGD:9068941 20220825 MouseDO OMIM:308300 12029165 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:12849 autistic disorder ISO RGD:1343590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12029165 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:13628 favism ISO RGD:1343590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12029165 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:1826 epilepsy ISO RGD:1343590 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12029165 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:2729 dyskeratosis congenita ISO RGD:1343590 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12029165 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1343590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23125191 12029165 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:607 paraplegia ISO RGD:1343590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12029165 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:630 genetic disease ISO RGD:1343590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12029165 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:65 connective tissue disease ISO RGD:1343590 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:18414213|PMID:25741868|PMID:28492532 12029165 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:9004538 Hearing Loss ISO RGD:1343590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868 12029193 LOC100979847 olfactory receptor 6N2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1350201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12029193 LOC100979847 olfactory receptor 6N2 gene DOID:1540 parathyroid carcinoma ISO RGD:1350201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12029193 LOC100979847 olfactory receptor 6N2 gene DOID:630 genetic disease ISO RGD:1350201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12029193 LOC100979847 olfactory receptor 6N2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12029196 MYO1E myosin IE gene DOID:0080600 COVID-19 ISO RGD:1350355 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12029196 MYO1E myosin IE gene DOID:0111131 focal segmental glomerulosclerosis 6 ISO RGD:1350355 D RGD:7240710 20180130 OMIM 12029196 MYO1E myosin IE gene DOID:0111131 focal segmental glomerulosclerosis 6 ISO RGD:1350355 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 PMID:17576681|PMID:21756023|PMID:25741868|PMID:28492532|PMID:33532864|PMID:9536098 12029196 MYO1E myosin IE gene DOID:0111365 benign familial hematuria ISO RGD:1350355 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microscopic hematuria PMID:24033266|PMID:25741868|PMID:28492532 12029196 MYO1E myosin IE gene DOID:1184 nephrotic syndrome ISO RGD:1350355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:29127259 12029196 MYO1E myosin IE gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1350355 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12029196 MYO1E myosin IE gene DOID:2717 Bloom syndrome ISO RGD:1350355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12029196 MYO1E myosin IE gene DOID:5419 schizophrenia ISO RGD:1350355 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12029196 MYO1E myosin IE gene DOID:557 kidney disease ISO RGD:1350355 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:24033266|PMID:25741868|PMID:28492532 12029196 MYO1E myosin IE gene DOID:630 genetic disease ISO RGD:1350355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12029196 MYO1E myosin IE gene DOID:9256 colorectal cancer ISO RGD:1350355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12029228 S1PR2 sphingosine-1-phosphate receptor 2 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:68467 D RGD:9068941 20220825 MouseDO OMIM:605027 12029228 S1PR2 sphingosine-1-phosphate receptor 2 gene DOID:0110519 autosomal recessive nonsyndromic deafness 68 ISO RGD:1343937 D RGD:7240710 20190315 OMIM 12029228 S1PR2 sphingosine-1-phosphate receptor 2 gene DOID:0110519 autosomal recessive nonsyndromic deafness 68 ISO RGD:1343937 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 68 PMID:16703383|PMID:24033266|PMID:24824130|PMID:25741868|PMID:26805784|PMID:28492532 12029228 S1PR2 sphingosine-1-phosphate receptor 2 gene DOID:114 heart disease ISO RGD:1343937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 12029228 S1PR2 sphingosine-1-phosphate receptor 2 gene DOID:630 genetic disease ISO RGD:1343937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 12029228 S1PR2 sphingosine-1-phosphate receptor 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1343937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26518876 12029228 S1PR2 sphingosine-1-phosphate receptor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1343937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22406263 12029235 ZNF419 zinc finger protein 419 gene DOID:10283 prostate cancer ISO RGD:1602863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12029235 ZNF419 zinc finger protein 419 gene DOID:630 genetic disease ISO RGD:1602863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12029245 COL15A1 collagen type XV alpha 1 chain gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1321941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 12029245 COL15A1 collagen type XV alpha 1 chain gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1321941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 12029245 COL15A1 collagen type XV alpha 1 chain gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1321941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 12029245 COL15A1 collagen type XV alpha 1 chain gene DOID:1059 intellectual disability ISO RGD:1321941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12029245 COL15A1 collagen type XV alpha 1 chain gene DOID:12712 nephronophthisis ISO RGD:1321941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 12029245 COL15A1 collagen type XV alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:1321941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 12029245 COL15A1 collagen type XV alpha 1 chain gene DOID:630 genetic disease ISO RGD:1321941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12029245 COL15A1 collagen type XV alpha 1 chain gene DOID:684 hepatocellular carcinoma ISO RGD:1321941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12029245 COL15A1 collagen type XV alpha 1 chain gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12029292 FHDC1 FH2 domain containing 1 gene DOID:630 genetic disease ISO RGD:1604560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12029311 KHK ketohexokinase gene DOID:0111680 essential fructosuria ISO RGD:69145 D RGD:7240710 20180130 OMIM 12029311 KHK ketohexokinase gene DOID:0111680 essential fructosuria ISO RGD:69145 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Essential fructosuria PMID:19237742|PMID:25741868|PMID:28492532|PMID:7833921|PMID:9799106 12029311 KHK ketohexokinase gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:69145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12029311 KHK ketohexokinase gene DOID:2978 carbohydrate metabolic disorder ISO RGD:1621550 D RGD:9068941 20200609 RGD PMID:29534502|REF_RGD_ID:13673909 12029311 KHK ketohexokinase gene DOID:630 genetic disease ISO RGD:69145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12029311 KHK ketohexokinase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2966 D RGD:9068941 20200609 RGD PMID:6088170|REF_RGD_ID:2302253 12029311 KHK ketohexokinase gene DOID:9869 hereditary fructose intolerance syndrome treatment ISO RGD:10837 D RGD:9068941 20200609 RGD PMID:29533924|REF_RGD_ID:13673910 12029341 CREB3L2 cAMP responsive element binding protein 3 like 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12029341 CREB3L2 cAMP responsive element binding protein 3 like 2 gene DOID:630 genetic disease ISO RGD:1314429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12029361 BCL2L10 BCL2 like 10 gene DOID:0050908 myelodysplastic syndrome susceptibility ISO RGD:1353095 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.Leu21Arg rs2231292)(human) PMID:24047476|REF_RGD_ID:11058140 12029361 BCL2L10 BCL2 like 10 gene DOID:0050908 myelodysplastic syndrome treatment ISO RGD:1353095 D RGD:9068941 20200609 RGD PMID:21760590|REF_RGD_ID:14392809 12029361 BCL2L10 BCL2 like 10 gene DOID:2717 Bloom syndrome ISO RGD:1353095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12029361 BCL2L10 BCL2 like 10 gene DOID:3459 breast carcinoma treatment ISO RGD:1353095 D RGD:9068941 20200609 RGD PMID:22207111|REF_RGD_ID:14392810 12029361 BCL2L10 BCL2 like 10 gene DOID:5517 stomach carcinoma ISO RGD:1353095 D RGD:9068941 20200609 RGD DNA:hypermethylation:stomach: PMID:21171085|REF_RGD_ID:14392807 12029361 BCL2L10 BCL2 like 10 gene DOID:5517 stomach carcinoma ISO RGD:731990 D RGD:9068941 20200609 RGD PMID:21171085|REF_RGD_ID:14392807 12029361 BCL2L10 BCL2 like 10 gene DOID:607 paraplegia ISO RGD:1353095 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 12029361 BCL2L10 BCL2 like 10 gene DOID:630 genetic disease ISO RGD:1353095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12029361 BCL2L10 BCL2 like 10 gene DOID:9005515 Therapy-related Acute Myeloid Leukemia susceptibility ISO RGD:1353095 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.Leu21Arg rs2231292)(human) PMID:24047476|REF_RGD_ID:11058140 12029361 BCL2L10 BCL2 like 10 gene DOID:9256 colorectal cancer ISO RGD:1353095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12029361 BCL2L10 BCL2 like 10 gene DOID:9538 multiple myeloma ISO RGD:1353095 D RGD:9068941 20200609 RGD PMID:27455953|REF_RGD_ID:14392808 12029385 SPOCK1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1322984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12029385 SPOCK1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1322984 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12029385 SPOCK1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 gene DOID:10907 microcephaly ISO RGD:1322984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12029385 SPOCK1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 gene DOID:630 genetic disease ISO RGD:1322984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12029385 SPOCK1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1322984 D RGD:9068941 20220825 RGD human cells in mouse model PMID:30710422|REF_RGD_ID:153344549 12029385 SPOCK1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17929269 12029385 SPOCK1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12029385 SPOCK1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322984 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12029398 CD180 CD180 molecule gene DOID:0080600 COVID-19 ISO RGD:1317791 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12029398 CD180 CD180 molecule gene DOID:630 genetic disease ISO RGD:1317791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12029398 CD180 CD180 molecule gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12029411 SLC25A28 solute carrier family 25 member 28 gene DOID:630 genetic disease ISO RGD:1312988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12029444 RCAN2 regulator of calcineurin 2 gene DOID:630 genetic disease ISO RGD:69211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12029459 GDF1 growth differentiation factor 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1312261 D RGD:7240710 20200701 OMIM 12029459 GDF1 growth differentiation factor 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1312261 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Situs ambiguus | ClinVar Annotator: match by term: Visceral heterotaxy PMID:17924340|PMID:20413652|PMID:25741868|PMID:28492532|PMID:28991257 12029459 GDF1 growth differentiation factor 1 gene DOID:0050753 cerebellar ataxia treatment ISO RGD:1622181 D RGD:9068941 20230302 RGD PMID:21625621|REF_RGD_ID:156431058 12029459 GDF1 growth differentiation factor 1 gene DOID:0050866 oral squamous cell carcinoma exacerbates ISO RGD:1622181 D RGD:9068941 20230302 RGD PMID:33753723|REF_RGD_ID:156431057 12029459 GDF1 growth differentiation factor 1 gene DOID:0060770 dextro-looped transposition of the great arteries ISO RGD:1312261 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:17924340 12029459 GDF1 growth differentiation factor 1 gene DOID:0060772 multiple types of congenital heart defects 6 ISO RGD:1312261 D RGD:7240710 20200701 OMIM 12029459 GDF1 growth differentiation factor 1 gene DOID:0060772 multiple types of congenital heart defects 6 ISO RGD:1312261 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 6 PMID:14648004|PMID:1792434|PMID:17924340|PMID:17936261|PMID:20413652|PMID:25741868|PMID:28492532|PMID:28991257|PMID:32144877 12029459 GDF1 growth differentiation factor 1 gene DOID:0060856 right atrial isomerism ISO RGD:1312261 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Right atrial isomerism PMID:14648004|PMID:1792434|PMID:17924340|PMID:17936261|PMID:20413652|PMID:25741868|PMID:28492532|PMID:28991257|PMID:32144877 12029459 GDF1 growth differentiation factor 1 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1312261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:17576681|PMID:17924340|PMID:19243074|PMID:20413652|PMID:24033266|PMID:24782409|PMID:25741868|PMID:28492532|PMID:28991257|PMID:30800706|PMID:9536098 12029459 GDF1 growth differentiation factor 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1312261 D RGD:9068941 20230413 RGD mRNA,protein:increased expression:heart (human) PMID:24275554|REF_RGD_ID:11252017 12029459 GDF1 growth differentiation factor 1 gene DOID:1682 congenital heart disease ISO RGD:1312261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:28492532|PMID:28991257 12029459 GDF1 growth differentiation factor 1 gene DOID:1682 congenital heart disease susceptibility ISO RGD:1312261 D RGD:9068941 20230413 RGD DNA:SNPs,haplotypes: (rs7250622,rs4808867, rs4808870) (human) PMID:23076529|REF_RGD_ID:243065149 12029459 GDF1 growth differentiation factor 1 gene DOID:1682 congenital heart disease susceptibility ISO RGD:1312261 D RGD:9068941 20230413 RGD DNA:SNPs:exon8: (rs4808863) (human) PMID:26656983|REF_RGD_ID:11536909 12029459 GDF1 growth differentiation factor 1 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1312261 D RGD:9068941 20230413 RGD associated with Stable Angina; protein:decreased expression:blood plasma (human) PMID:36268984|REF_RGD_ID:243065147 12029459 GDF1 growth differentiation factor 1 gene DOID:630 genetic disease ISO RGD:1312261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17924340|PMID:25741868|PMID:28492532 12029459 GDF1 growth differentiation factor 1 gene DOID:6406 double outlet right ventricle ISO RGD:1312261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Double outlet right ventricle PMID:17924340 12029459 GDF1 growth differentiation factor 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1312261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:17924340|PMID:28492532 12029459 GDF1 growth differentiation factor 1 gene DOID:758 situs inversus ISO RGD:1312261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence PMID:17924340 12029459 GDF1 growth differentiation factor 1 gene DOID:9005775 Perinatal Asphyxia ISO RGD:1305974 D RGD:9068941 20230302 RGD PMID:23625371|REF_RGD_ID:156431056 12029459 GDF1 growth differentiation factor 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1312261 D RGD:9068941 20230406 RGD protein:increased expression:Left ventricle (human) PMID:25726944|REF_RGD_ID:11252030 12029459 GDF1 growth differentiation factor 1 gene DOID:9007692 Insulin Resistance ameliorates ISO RGD:1622181 D RGD:9068941 20230302 RGD PMID:30605666|REF_RGD_ID:156431060 12029459 GDF1 growth differentiation factor 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1312261 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12029459 GDF1 growth differentiation factor 1 gene DOID:9970 obesity ISO RGD:1622181 D RGD:9068941 20230302 RGD mRNA:increased expression:skeletal muscle cell PMID:30605666|REF_RGD_ID:156431060 12029477 SYNE3 spectrin repeat containing nuclear envelope family member 3 gene DOID:12858 Huntington's disease ISO RGD:1312072 D RGD:9068941 20200609 RGD up-regulated PMID:22202438|REF_RGD_ID:11073597 12029477 SYNE3 spectrin repeat containing nuclear envelope family member 3 gene DOID:630 genetic disease ISO RGD:1312072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12029498 ZNF385A zinc finger protein 385A gene DOID:630 genetic disease ISO RGD:1315468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12029518 PTPN18 protein tyrosine phosphatase non-receptor type 18 gene DOID:630 genetic disease ISO RGD:1323122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12029518 PTPN18 protein tyrosine phosphatase non-receptor type 18 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12029545 GPR173 G protein-coupled receptor 173 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12029545 GPR173 G protein-coupled receptor 173 gene DOID:12849 autistic disorder ISO RGD:1347737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12029545 GPR173 G protein-coupled receptor 173 gene DOID:630 genetic disease ISO RGD:1347737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12029554 LOC100970460 histone H1.0 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:736127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12029554 LOC100970460 histone H1.0 gene DOID:0080600 COVID-19 ISO RGD:736127 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12029554 LOC100970460 histone H1.0 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:736127 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12029554 LOC100970460 histone H1.0 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:736127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12029554 LOC100970460 histone H1.0 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:736127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12029554 LOC100970460 histone H1.0 gene DOID:9119 acute myeloid leukemia ISO RGD:736127 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12029560 PCNX4 pecanex 4 gene DOID:630 genetic disease ISO RGD:1348042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12029592 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:730902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12029592 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:0080431 developmental and epileptic encephalopathy 19 ISO RGD:730902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 19 PMID:16718694|PMID:18414213|PMID:24623842|PMID:25741868|PMID:26467025|PMID:26918889|PMID:27353043|PMID:27521439|PMID:27622563|PMID:28492532|PMID:28554332|PMID:29389947|PMID:29655203|PMID:32047208|PMID:32238909 12029592 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:0080431 developmental and epileptic encephalopathy 19 susceptibility ISO RGD:730902 D RGD:7240710 20230505 OMIM 12029592 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:0111314 idiopathic generalized epilepsy 13 ISO RGD:730902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 13 PMID:11992121|PMID:16530959|PMID:16569738|PMID:18414213|PMID:18534981|PMID:20551311|PMID:21714819|PMID:24623842|PMID:25741868|PMID:26467025|PMID:26918889|PMID:27353043|PMID:27521439|PMID:28251550|PMID:28492532|PMID:29655203 12029592 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:0111314 idiopathic generalized epilepsy 13 susceptibility ISO RGD:730902 D RGD:7240710 20190904 OMIM 12029592 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:10003 sensorineural hearing loss ISO RGD:730902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:28492532 12029592 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:1059 intellectual disability ISO RGD:730902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12029592 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:12849 autistic disorder ISO RGD:730902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18821008 12029592 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:13413 hepatic encephalopathy ISO RGD:61855 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:15929193|REF_RGD_ID:6480237 12029592 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:13413 hepatic encephalopathy ISO RGD:730902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15929193 12029592 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:1825 childhood absence epilepsy ISO RGD:730902 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4 PMID:16718694 12029592 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:1826 epilepsy ISO RGD:730902 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Intractable seizure | ClinVar Annotator: match by term: Seizure PMID:16530959|PMID:16569738|PMID:18414213|PMID:24623842|PMID:24909990|PMID:25741868|PMID:26467025|PMID:27353043|PMID:27521439|PMID:28251550|PMID:28492532|PMID:29655203 12029592 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:1826 epilepsy ISO RGD:730902 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intractable seizure | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:27353043|PMID:27521439|PMID:28492532|PMID:29655203 12029592 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:730902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:16199547|PMID:16530959|PMID:16569738|PMID:16718694|PMID:17576681|PMID:18414213|PMID:21703448|PMID:22190369|PMID:24623842|PMID:24811917|PMID:25741868|PMID:26467025|PMID:26918889|PMID:27353043|PMID:27521439|PMID:27622563|PMID:28251550|PMID:28492532|PMID:28554332|PMID:28837158|PMID:28864462|PMID:29186148|PMID:29655203|PMID:31164858|PMID:32238909|PMID:9536098 12029592 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:730902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile myoclonic epilepsy 12029592 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:4990 essential tremor ISO RGD:730902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15765150 12029592 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:5119 ovarian cyst ISO RGD:730902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12029592 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:630 genetic disease ISO RGD:730902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16530959|PMID:16569738|PMID:18414213|PMID:21703448|PMID:24623842|PMID:24909990|PMID:25741868|PMID:26467025|PMID:26918889|PMID:27521439|PMID:27622563|PMID:28251550|PMID:28492532 12029592 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12029592 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:9004866 Ataxia ISO RGD:730902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12404077 12029592 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:730902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:18414213|PMID:25741868|PMID:28492532 12029610 DAZAP2 DAZ associated protein 2 gene DOID:630 genetic disease ISO RGD:1316588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12029636 IKZF3 IKAROS family zinc finger 3 gene DOID:0050685 small cell carcinoma ISO RGD:1315971 D RGD:9068941 20220204 RGD protein:increased expression:lung (human) PMID:24823637|REF_RGD_ID:151347636 12029636 IKZF3 IKAROS family zinc finger 3 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1315971 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 12029636 IKZF3 IKAROS family zinc finger 3 gene DOID:2841 asthma ISO RGD:1315971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25256354 12029636 IKZF3 IKAROS family zinc finger 3 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1315971 D RGD:9068941 20220204 RGD protein:increased expression:lung (human) PMID:24823637|REF_RGD_ID:151347636 12029636 IKZF3 IKAROS family zinc finger 3 gene DOID:630 genetic disease ISO RGD:1315971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12029636 IKZF3 IKAROS family zinc finger 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1315971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 12029636 IKZF3 IKAROS family zinc finger 3 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1315971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 12029636 IKZF3 IKAROS family zinc finger 3 gene DOID:9006187 Immunodeficiency 84 ISO RGD:1315971 D RGD:7240710 20210804 OMIM 12029636 IKZF3 IKAROS family zinc finger 3 gene DOID:9006187 Immunodeficiency 84 ISO RGD:1315971 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 84 PMID:25741868|PMID:34155405 12029636 IKZF3 IKAROS family zinc finger 3 gene DOID:9074 systemic lupus erythematosus ISO RGD:1315972 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12029636 IKZF3 IKAROS family zinc finger 3 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1315971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23334668 12029662 PPBP pro-platelet basic protein gene DOID:0080600 COVID-19 ISO RGD:736390 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD8+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 12029662 PPBP pro-platelet basic protein gene DOID:10763 hypertension ISO RGD:736390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15513305|PMID:6192689 12029662 PPBP pro-platelet basic protein gene DOID:1205 allergic disease ISO RGD:736390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23624239 12029662 PPBP pro-platelet basic protein gene DOID:630 genetic disease ISO RGD:736390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12029662 PPBP pro-platelet basic protein gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:736390 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12029662 PPBP pro-platelet basic protein gene DOID:9005172 Lung Neoplasms ISO RGD:736390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12029662 PPBP pro-platelet basic protein gene DOID:9744 type 1 diabetes mellitus ISO RGD:736390 D RGD:9068941 20200609 RGD PMID:14730686|REF_RGD_ID:1625598 12029669 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:0080471 developmental and epileptic encephalopathy 92 ISO RGD:735355 D RGD:7240710 20190315 OMIM 12029669 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:0080471 developmental and epileptic encephalopathy 92 ISO RGD:735355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood, 2 PMID:25124326|PMID:25741868|PMID:27622563|PMID:27789573|PMID:28492532|PMID:29100083|PMID:32533790|PMID:33325057 12029669 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:10283 prostate cancer ISO RGD:735355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:25741868|PMID:28492532 12029669 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:1059 intellectual disability ISO RGD:735355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: intellectual disabilities PMID:12140781|PMID:17576681|PMID:25741868|PMID:26350515|PMID:26467025|PMID:27622563|PMID:27789573|PMID:28492532|PMID:29100083|PMID:9536098 12029669 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:1059 intellectual disability ISO RGD:735355 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: intellectual disabilities PMID:12140781|PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31036916|PMID:31785789|PMID:9536098 12029669 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:1059 intellectual disability ISO RGD:735355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:12140781|PMID:17576681|PMID:23265383|PMID:25741868|PMID:26350515|PMID:26467025|PMID:27622563|PMID:27789573|PMID:28492532|PMID:29100083|PMID:30033060|PMID:31036916|PMID:31785789|PMID:32533790|PMID:33325057|PMID:9536098 12029669 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:1059 intellectual disability ISO RGD:735355 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:12140781|PMID:17576681|PMID:23265383|PMID:25741868|PMID:26350515|PMID:26467025|PMID:27622563|PMID:27789573|PMID:28492532|PMID:29100083|PMID:29758562|PMID:30033060|PMID:31036916|PMID:31785789|PMID:32533790|PMID:33325057|PMID:9536098 12029669 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:12849 autistic disorder ISO RGD:735355 D RGD:9068941 20200609 RGD DNA:SNP: :RS2617503, RS12187676 (human) PMID:16080114|REF_RGD_ID:6480256 12029669 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:13938 amenorrhea ISO RGD:735355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12029669 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:1826 epilepsy ISO RGD:735355 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 12029669 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:735355 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:16718694|PMID:22190369|PMID:24811917|PMID:28492532 12029669 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:5419 schizophrenia ISO RGD:735355 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 12029669 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:630 genetic disease ISO RGD:735355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12029669 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735355 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 12029669 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:735355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 12029692 ARFRP1 ADP ribosylation factor related protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:732355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12029692 ARFRP1 ADP ribosylation factor related protein 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:732355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12029692 ARFRP1 ADP ribosylation factor related protein 1 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:732355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 12029692 ARFRP1 ADP ribosylation factor related protein 1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:732355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12029692 ARFRP1 ADP ribosylation factor related protein 1 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:732355 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12029692 ARFRP1 ADP ribosylation factor related protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:732355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12029692 ARFRP1 ADP ribosylation factor related protein 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:732355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12029692 ARFRP1 ADP ribosylation factor related protein 1 gene DOID:630 genetic disease ISO RGD:732355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12029715 ZPBP zona pellucida binding protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12029715 ZPBP zona pellucida binding protein gene DOID:630 genetic disease ISO RGD:1351452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12029715 ZPBP zona pellucida binding protein gene DOID:9000088 Spermatogenic Failure 66 ISO RGD:1351452 D RGD:7240710 20220406 OMIM 12029715 ZPBP zona pellucida binding protein gene DOID:9000088 Spermatogenic Failure 66 ISO RGD:1351452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 66 PMID:31985809 12029733 ANKDD1A ankyrin repeat and death domain containing 1A gene DOID:0110935 nemaline myopathy 6 ISO RGD:1604469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12029733 ANKDD1A ankyrin repeat and death domain containing 1A gene DOID:2717 Bloom syndrome ISO RGD:1604469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12029733 ANKDD1A ankyrin repeat and death domain containing 1A gene DOID:630 genetic disease ISO RGD:1604469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12029733 ANKDD1A ankyrin repeat and death domain containing 1A gene DOID:9256 colorectal cancer ISO RGD:1604469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12029768 MRPL57 mitochondrial ribosomal protein L57 gene DOID:630 genetic disease ISO RGD:1321750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12029790 DDX43 DEAD-box helicase 43 gene DOID:3659 sialuria ISO RGD:1345973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 12029790 DDX43 DEAD-box helicase 43 gene DOID:630 genetic disease ISO RGD:1345973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12029812 PKIG cAMP-dependent protein kinase inhibitor gamma gene DOID:2234 focal epilepsy ISO RGD:1350390 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12029812 PKIG cAMP-dependent protein kinase inhibitor gamma gene DOID:630 genetic disease ISO RGD:1350390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12029812 PKIG cAMP-dependent protein kinase inhibitor gamma gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1350390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12029837 FGGY FGGY carbohydrate kinase domain containing gene DOID:1059 intellectual disability ISO RGD:1605365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12029837 FGGY FGGY carbohydrate kinase domain containing gene DOID:630 genetic disease ISO RGD:1605365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12029837 FGGY FGGY carbohydrate kinase domain containing gene DOID:9004657 Weight Gain ISO RGD:1605365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29220483 12029837 FGGY FGGY carbohydrate kinase domain containing gene DOID:9970 obesity ISO RGD:1605365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29220483 12029881 FUT7 fucosyltransferase 7 gene DOID:0050777 Joubert syndrome ISO RGD:1353646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12029881 FUT7 fucosyltransferase 7 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1353646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12029881 FUT7 fucosyltransferase 7 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1353646 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12029881 FUT7 fucosyltransferase 7 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1353646 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12029881 FUT7 fucosyltransferase 7 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1353646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12029881 FUT7 fucosyltransferase 7 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1353646 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12029881 FUT7 fucosyltransferase 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 12029881 FUT7 fucosyltransferase 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353646 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12029881 FUT7 fucosyltransferase 7 gene DOID:0081097 Rafiq syndrome ISO RGD:1353646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12029881 FUT7 fucosyltransferase 7 gene DOID:11612 polycystic ovary syndrome ISO RGD:1353646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12029881 FUT7 fucosyltransferase 7 gene DOID:1826 epilepsy ISO RGD:1353646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12029881 FUT7 fucosyltransferase 7 gene DOID:3652 Leigh disease ISO RGD:1353646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12029881 FUT7 fucosyltransferase 7 gene DOID:630 genetic disease ISO RGD:1353646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12029881 FUT7 fucosyltransferase 7 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1353646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12029898 LRRTM2 leucine rich repeat transmembrane neuronal 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1345909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12029898 LRRTM2 leucine rich repeat transmembrane neuronal 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1345909 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12029898 LRRTM2 leucine rich repeat transmembrane neuronal 2 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1345909 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 12029898 LRRTM2 leucine rich repeat transmembrane neuronal 2 gene DOID:630 genetic disease ISO RGD:1345909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12029898 LRRTM2 leucine rich repeat transmembrane neuronal 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12029898 LRRTM2 leucine rich repeat transmembrane neuronal 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345909 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12029908 PMPCB peptidase, mitochondrial processing subunit beta gene DOID:0060902 Norman-Roberts syndrome ISO RGD:733027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:10973257|PMID:17124408|PMID:26046367|PMID:28454995|PMID:28492532 12029908 PMPCB peptidase, mitochondrial processing subunit beta gene DOID:0070332 multiple mitochondrial dysfunctions syndrome 6 ISO RGD:733027 D RGD:7240710 20190315 OMIM 12029908 PMPCB peptidase, mitochondrial processing subunit beta gene DOID:0070332 multiple mitochondrial dysfunctions syndrome 6 ISO RGD:733027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 6 | ClinVar Annotator: match by term: PMPCB-related mitochondrial disorder PMID:25741868|PMID:28492532|PMID:29576218 12029908 PMPCB peptidase, mitochondrial processing subunit beta gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12029908 PMPCB peptidase, mitochondrial processing subunit beta gene DOID:630 genetic disease ISO RGD:733027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29576218 12029928 FGFR1OP2 FGFR1 oncogene partner 2 gene DOID:0070004 myeloid neoplasm ISO RGD:1348205 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22875613 12029928 FGFR1OP2 FGFR1 oncogene partner 2 gene DOID:630 genetic disease ISO RGD:1348205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12029942 MCF2L MCF.2 cell line derived transforming sequence like gene DOID:2222 factor X deficiency ISO RGD:737008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12029942 MCF2L MCF.2 cell line derived transforming sequence like gene DOID:630 genetic disease ISO RGD:737008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12030034 SNRPA small nuclear ribonucleoprotein polypeptide A gene DOID:10652 Alzheimer's disease ISO RGD:1316600 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (human) PMID:24023061|REF_RGD_ID:10448959 12030034 SNRPA small nuclear ribonucleoprotein polypeptide A gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1316600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12030034 SNRPA small nuclear ribonucleoprotein polypeptide A gene DOID:1342 congenital hypoplastic anemia ISO RGD:1316600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12030034 SNRPA small nuclear ribonucleoprotein polypeptide A gene DOID:2340 craniosynostosis ISO RGD:1316600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12030034 SNRPA small nuclear ribonucleoprotein polypeptide A gene DOID:630 genetic disease ISO RGD:1316600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12030034 SNRPA small nuclear ribonucleoprotein polypeptide A gene DOID:65 connective tissue disease ISO RGD:1316600 D RGD:9068941 20200609 RGD PMID:2968364|REF_RGD_ID:10448928 12030034 SNRPA small nuclear ribonucleoprotein polypeptide A gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1316600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12030034 SNRPA small nuclear ribonucleoprotein polypeptide A gene DOID:9269 maple syrup urine disease ISO RGD:1316600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12030044 GTF2A1L general transcription factor IIA subunit 1 like gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:1602495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 12030044 GTF2A1L general transcription factor IIA subunit 1 like gene DOID:630 genetic disease ISO RGD:1602495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12030058 FGF23 fibroblast growth factor 23 gene DOID:0050336 hypophosphatemia ISO RGD:1351456 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypophosphatemia PMID:25741868 12030058 FGF23 fibroblast growth factor 23 gene DOID:0050459 hyperphosphatemia ISO RGD:1351456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17710231 12030058 FGF23 fibroblast growth factor 23 gene DOID:0050589 inflammatory bowel disease disease_progression ISO RGD:1351456 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:22551310|REF_RGD_ID:10044237 12030058 FGF23 fibroblast growth factor 23 gene DOID:0050948 autosomal dominant hypophosphatemic rickets ISO RGD:1351456 D RGD:7240710 20180130 OMIM 12030058 FGF23 fibroblast growth factor 23 gene DOID:0050948 autosomal dominant hypophosphatemic rickets ISO RGD:1351456 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant PMID:11062477|PMID:11409890|PMID:11737582|PMID:11805436|PMID:12050201|PMID:12130585|PMID:12711740|PMID:12851820|PMID:12874285|PMID:1353055|PMID:15182416|PMID:15590700|PMID:15628294|PMID:15836777|PMID:15885032|PMID:16436388|PMID:17227222|PMID:17452648|PMID:17623664|PMID:17992255|PMID:18682534|PMID:18982401|PMID:21880793|PMID:22419710|PMID:24033266|PMID:25445451|PMID:25741868|PMID:26186302|PMID:26467025|PMID:28492532|PMID:31486862|PMID:32415663|PMID:35738466|PMID:5173181|PMID:9024275 12030058 FGF23 fibroblast growth factor 23 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1351456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 12030058 FGF23 fibroblast growth factor 23 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1351456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12030058 FGF23 fibroblast growth factor 23 gene DOID:0111063 hyperphosphatemic familial tumoral calcinosis ISO RGD:1351456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome PMID:15590700|PMID:15687325|PMID:18682534|PMID:19837926|PMID:24033266|PMID:25326637|PMID:29389098 12030058 FGF23 fibroblast growth factor 23 gene DOID:182 calcinosis ISO RGD:1351456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17710231 12030058 FGF23 fibroblast growth factor 23 gene DOID:4676 uremia ISO RGD:620178 D RGD:9068941 20200609 RGD PMID:19339809|REF_RGD_ID:10044236 12030058 FGF23 fibroblast growth factor 23 gene DOID:630 genetic disease ISO RGD:1351456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12030058 FGF23 fibroblast growth factor 23 gene DOID:784 chronic kidney disease ISO RGD:620178 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:20016468|REF_RGD_ID:10044210 12030058 FGF23 fibroblast growth factor 23 gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:1351456 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets PMID:11062477|PMID:11409890|PMID:11737582|PMID:11805436|PMID:12050201|PMID:12130585|PMID:12711740|PMID:12851820|PMID:12874285|PMID:15182416|PMID:15590700|PMID:15628294|PMID:15836777|PMID:15885032|PMID:16436388|PMID:17227222|PMID:17452648|PMID:17623664|PMID:17992255|PMID:18682534|PMID:21880793|PMID:25741868|PMID:26186302|PMID:28492532|PMID:35738466 12030058 FGF23 fibroblast growth factor 23 gene DOID:9002165 Diabetic Nephropathies severity ISO RGD:620178 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:23967103|REF_RGD_ID:10044235 12030058 FGF23 fibroblast growth factor 23 gene DOID:9002644 Premature Aging ISO RGD:734317 D RGD:9068941 20200609 RGD PMID:18729070|REF_RGD_ID:10044240 12030058 FGF23 fibroblast growth factor 23 gene DOID:9002644 Premature Aging ISO RGD:734317 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver: PMID:19500727|REF_RGD_ID:10045876 12030058 FGF23 fibroblast growth factor 23 gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:1351456 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:24101107|REF_RGD_ID:10044241 12030058 FGF23 fibroblast growth factor 23 gene DOID:9007069 Hyperphosphatemic Familial Tumoral Calcinosis 2 ISO RGD:1351456 D RGD:7240710 20190508 OMIM 12030058 FGF23 fibroblast growth factor 23 gene DOID:9007069 Hyperphosphatemic Familial Tumoral Calcinosis 2 ISO RGD:1351456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 2 PMID:11062477|PMID:15590700|PMID:15687325|PMID:16030159|PMID:16151858|PMID:18682534|PMID:18982401|PMID:19837926|PMID:22419710|PMID:24033266|PMID:25445451|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29389098 12030058 FGF23 fibroblast growth factor 23 gene DOID:9007181 Osteoporotic Fractures ISO RGD:1351456 D RGD:9068941 20200609 RGD PMID:20928885|REF_RGD_ID:10044238 12030058 FGF23 fibroblast growth factor 23 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1351456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:15590700|PMID:15687325|PMID:18682534|PMID:19837926|PMID:24033266|PMID:25378588|PMID:25741868|PMID:29389098 12030075 FAM168A family with sequence similarity 168 member A gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1604050 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12030075 FAM168A family with sequence similarity 168 member A gene DOID:1059 intellectual disability ISO RGD:1604050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12030075 FAM168A family with sequence similarity 168 member A gene DOID:630 genetic disease ISO RGD:1604050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12030075 FAM168A family with sequence similarity 168 member A gene DOID:9000217 Stomach Neoplasms ISO RGD:1604050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12030075 FAM168A family with sequence similarity 168 member A gene DOID:9000918 Disease Progression ISO RGD:1604050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12030093 DNAJC16 DnaJ heat shock protein family (Hsp40) member C16 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603691 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12030093 DNAJC16 DnaJ heat shock protein family (Hsp40) member C16 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1603691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 12030093 DNAJC16 DnaJ heat shock protein family (Hsp40) member C16 gene DOID:630 genetic disease ISO RGD:1603691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12030093 DNAJC16 DnaJ heat shock protein family (Hsp40) member C16 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1603691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23721890|PMID:28492532 12030118 AAGAB alpha and gamma adaptin binding protein gene DOID:0080214 punctate palmoplantar keratoderma type I ISO RGD:1605954 D RGD:7240710 20180130 OMIM 12030118 AAGAB alpha and gamma adaptin binding protein gene DOID:0080214 punctate palmoplantar keratoderma type I ISO RGD:1605954 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma, punctate type 1A PMID:17576681|PMID:23000146|PMID:23064416|PMID:23563198|PMID:23633024|PMID:24390136|PMID:25741868|PMID:26608363|PMID:28492532|PMID:9536098 12030118 AAGAB alpha and gamma adaptin binding protein gene DOID:14004 thoracic aortic aneurysm ISO RGD:1605954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:21778426|PMID:24804794|PMID:28492532 12030118 AAGAB alpha and gamma adaptin binding protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1605954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12030118 AAGAB alpha and gamma adaptin binding protein gene DOID:2717 Bloom syndrome ISO RGD:1605954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12030118 AAGAB alpha and gamma adaptin binding protein gene DOID:3390 palmoplantar keratosis ISO RGD:1605954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma PMID:25741868 12030118 AAGAB alpha and gamma adaptin binding protein gene DOID:630 genetic disease ISO RGD:1605954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12030118 AAGAB alpha and gamma adaptin binding protein gene DOID:9256 colorectal cancer ISO RGD:1605954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12030142 GC GC vitamin D binding protein gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:736902 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid: PMID:20093204|REF_RGD_ID:5509869 12030142 GC GC vitamin D binding protein gene DOID:11446 sciatic neuropathy ISO RGD:736902 D RGD:9068941 20200609 RGD protein:increased expression:nerve PMID:15509515|REF_RGD_ID:2316214 12030142 GC GC vitamin D binding protein gene DOID:12205 dengue disease ISO RGD:736902 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19845402|REF_RGD_ID:5509870 12030142 GC GC vitamin D binding protein gene DOID:12361 Graves' disease ISO RGD:736902 D RGD:9068941 20210521 CTD CTD Direct Evidence: marker/mechanism PMID:12050214 12030142 GC GC vitamin D binding protein gene DOID:12361 Graves' disease susceptibility ISO RGD:736902 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.T420K(human) PMID:16868893|REF_RGD_ID:5509883 12030142 GC GC vitamin D binding protein gene DOID:12361 Graves' disease susceptibility ISO RGD:736902 D RGD:9068941 20200609 RGD DNA:repeats:intron PMID:12050214|REF_RGD_ID:5509886 12030142 GC GC vitamin D binding protein gene DOID:1289 neurodegenerative disease ISO RGD:736902 D RGD:9068941 20200609 RGD PMID:19000909|REF_RGD_ID:5509872 12030142 GC GC vitamin D binding protein gene DOID:13141 uveitis susceptibility ISO RGD:736902 D RGD:9068941 20200609 RGD associated with Spondylitis, Ankylosing;DNA:SNP: :rs4752(human) PMID:21844150|REF_RGD_ID:5509918 12030142 GC GC vitamin D binding protein gene DOID:13413 hepatic encephalopathy ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11510020 12030142 GC GC vitamin D binding protein gene DOID:13413 hepatic encephalopathy ISO RGD:736902 D RGD:9068941 20200609 RGD PMID:11521994|REF_RGD_ID:5509929 12030142 GC GC vitamin D binding protein gene DOID:14115 toxic shock syndrome ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17852808 12030142 GC GC vitamin D binding protein gene DOID:1586 rheumatic fever ISO RGD:736902 D RGD:9068941 20200609 RGD PMID:2737695|REF_RGD_ID:5509933 12030142 GC GC vitamin D binding protein gene DOID:2316 brain ischemia ISO RGD:2667 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:11239198|REF_RGD_ID:1625796 12030142 GC GC vitamin D binding protein gene DOID:2377 multiple sclerosis ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25590278 12030142 GC GC vitamin D binding protein gene DOID:2377 multiple sclerosis ISO RGD:736902 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:18807170|REF_RGD_ID:5509923 12030142 GC GC vitamin D binding protein gene DOID:2377 multiple sclerosis ISO RGD:736902 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:19324981|REF_RGD_ID:5509922 12030142 GC GC vitamin D binding protein gene DOID:2377 multiple sclerosis no_association ISO RGD:736902 D RGD:9068941 20200609 RGD DNA:SNPs:exon:p.T420K, D416E(human) PMID:12044990|REF_RGD_ID:5509887 12030142 GC GC vitamin D binding protein gene DOID:2377 multiple sclerosis susceptibility ISO RGD:736902 D RGD:9068941 20200609 RGD PMID:12137326|REF_RGD_ID:5509885 12030142 GC GC vitamin D binding protein gene DOID:2841 asthma ISO RGD:10624 D RGD:9068941 20200609 RGD PMID:21169467|REF_RGD_ID:5509920 12030142 GC GC vitamin D binding protein gene DOID:2841 asthma ISO RGD:736902 D RGD:9068941 20200609 RGD protein, mRNA:increased expression:bronchoalveolar lavage fluid: PMID:21169467|REF_RGD_ID:5509920 12030142 GC GC vitamin D binding protein gene DOID:289 endometriosis severity ISO RGD:736902 D RGD:9068941 20200609 RGD PMID:18334925|REF_RGD_ID:5509874 12030142 GC GC vitamin D binding protein gene DOID:3021 acute kidney failure ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 12030142 GC GC vitamin D binding protein gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736902 D RGD:9068941 20200609 RGD PMID:9517617|REF_RGD_ID:5509932 12030142 GC GC vitamin D binding protein gene DOID:5082 liver cirrhosis ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24381012 12030142 GC GC vitamin D binding protein gene DOID:526 human immunodeficiency virus infectious disease disease_progression ISO RGD:736902 D RGD:9068941 20200609 RGD PMID:2883392|REF_RGD_ID:5509934 12030142 GC GC vitamin D binding protein gene DOID:5419 schizophrenia ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25821032 12030142 GC GC vitamin D binding protein gene DOID:630 genetic disease ISO RGD:736902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12030142 GC GC vitamin D binding protein gene DOID:684 hepatocellular carcinoma ISO RGD:2667 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:21683810|REF_RGD_ID:5509919 12030142 GC GC vitamin D binding protein gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:736902 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic;DNA:SNP: :rs7041(human) PMID:25541958|REF_RGD_ID:14402025 12030142 GC GC vitamin D binding protein gene DOID:7148 rheumatoid arthritis ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3874814 12030142 GC GC vitamin D binding protein gene DOID:7148 rheumatoid arthritis ISO RGD:736902 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:9548303|REF_RGD_ID:5509931 12030142 GC GC vitamin D binding protein gene DOID:848 arthritis susceptibility ISO RGD:736902 D RGD:9068941 20200609 RGD associated with Spondylitis, Ankylosing;DNA:SNPs: :rs222016, rs222020,rs3733359(human) PMID:21844150|REF_RGD_ID:5509918 12030142 GC GC vitamin D binding protein gene DOID:8577 ulcerative colitis susceptibility ISO RGD:736902 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.T420K(human) PMID:21832969|REF_RGD_ID:5509866 12030142 GC GC vitamin D binding protein gene DOID:8778 Crohn's disease susceptibility ISO RGD:736902 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.T420K(human) PMID:21832969|REF_RGD_ID:5509866 12030142 GC GC vitamin D binding protein gene DOID:8947 diabetic retinopathy ISO RGD:736902 D RGD:9068941 20200609 RGD protein:increased expression:vitreous body PMID:16080911|REF_RGD_ID:2315548 12030142 GC GC vitamin D binding protein gene DOID:9000888 Pregnancy in Diabetics ISO RGD:2667 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:3948765|REF_RGD_ID:2315537 12030142 GC GC vitamin D binding protein gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:736902 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12030142 GC GC vitamin D binding protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12030142 GC GC vitamin D binding protein gene DOID:9001600 Wounds and Injuries ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17852808 12030142 GC GC vitamin D binding protein gene DOID:9001600 Wounds and Injuries treatment ISO RGD:2667 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24263389|REF_RGD_ID:11041807 12030142 GC GC vitamin D binding protein gene DOID:9002278 Metabolic Bone Diseases ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24381012 12030142 GC GC vitamin D binding protein gene DOID:9004086 AIDS Dementia Complex ISO RGD:736902 D RGD:9068941 20200609 RGD associated with HIV Infections;protein:increased expression:cerebrospinal fluid: PMID:17929958|REF_RGD_ID:5509882 12030142 GC GC vitamin D binding protein gene DOID:9004257 Pneumonia, Ventilator-Associated ISO RGD:736902 D RGD:9068941 20200609 RGD protein:increased expression:bronchoalveolar fluid: PMID:21136918|REF_RGD_ID:5509873 12030142 GC GC vitamin D binding protein gene DOID:9004590 Acute Liver Failure ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17852808|PMID:8666322 12030142 GC GC vitamin D binding protein gene DOID:9005172 Lung Neoplasms ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17902193 12030142 GC GC vitamin D binding protein gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2667 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:3838933|REF_RGD_ID:2315540 12030142 GC GC vitamin D binding protein gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:736902 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:16868893|REF_RGD_ID:5509883 12030142 GC GC vitamin D binding protein gene DOID:9006182 Carotid Artery Injuries ISO RGD:2667 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:21416056|REF_RGD_ID:5509868 12030142 GC GC vitamin D binding protein gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 12030142 GC GC vitamin D binding protein gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 12030142 GC GC vitamin D binding protein gene DOID:9007651 Chronic Bronchitis susceptibility ISO RGD:736902 D RGD:9068941 20200609 RGD PMID:12096683|REF_RGD_ID:5129516 12030142 GC GC vitamin D binding protein gene DOID:9351 diabetes mellitus ISO RGD:736902 D RGD:9068941 20200609 RGD protein:increased expression:ascitic fluid PMID:20054029|REF_RGD_ID:5509921 12030142 GC GC vitamin D binding protein gene DOID:9744 type 1 diabetes mellitus ISO RGD:736902 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.D416E(human) PMID:11239517|REF_RGD_ID:2315558 12030159 PBX4 PBX homeobox 4 gene DOID:630 genetic disease ISO RGD:1345476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12030159 PBX4 PBX homeobox 4 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1345476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 12030224 CORO6 coronin 6 gene DOID:0080600 COVID-19 ISO RGD:1354094 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12030224 CORO6 coronin 6 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1354094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 12030224 CORO6 coronin 6 gene DOID:3007 breast ductal carcinoma ISO RGD:1354094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12030224 CORO6 coronin 6 gene DOID:630 genetic disease ISO RGD:1354094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12030260 TTI2 TELO2 interacting protein 2 gene DOID:0081204 autosomal recessive intellectual developmental disorder 39 ISO RGD:1604785 D RGD:7240710 20180130 OMIM 12030260 TTI2 TELO2 interacting protein 2 gene DOID:0081204 autosomal recessive intellectual developmental disorder 39 ISO RGD:1604785 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome PMID:21937992|PMID:23956177|PMID:25741868|PMID:31737043|PMID:32061250 12030260 TTI2 TELO2 interacting protein 2 gene DOID:1059 intellectual disability ISO RGD:1604785 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12030260 TTI2 TELO2 interacting protein 2 gene DOID:10907 microcephaly ISO RGD:1604785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12030260 TTI2 TELO2 interacting protein 2 gene DOID:630 genetic disease ISO RGD:1604785 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12030277 FAM204A family with sequence similarity 204 member A gene DOID:630 genetic disease ISO RGD:1313564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12030297 TRIM28 tripartite motif containing 28 gene DOID:10283 prostate cancer ISO RGD:736265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12030297 TRIM28 tripartite motif containing 28 gene DOID:1936 atherosclerosis ISO RGD:736265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31351049 12030297 TRIM28 tripartite motif containing 28 gene DOID:2154 nephroblastoma ISO RGD:736265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1 PMID:25741868|PMID:32699065 12030297 TRIM28 tripartite motif containing 28 gene DOID:630 genetic disease ISO RGD:736265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12030297 TRIM28 tripartite motif containing 28 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 12030319 MCM9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:0070168 spermatogenic failure 3 ISO RGD:1313696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25480036|PMID:25741868|PMID:31042289 12030319 MCM9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:0080496 ovarian dysgenesis 4 ISO RGD:1313696 D RGD:7240710 20180130 OMIM 12030319 MCM9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:0080496 ovarian dysgenesis 4 ISO RGD:1313696 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: OVARIAN DYSGENESIS 4 PMID:25480036|PMID:25741868|PMID:26771056|PMID:28492532|PMID:31042289 12030319 MCM9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1313696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 12030319 MCM9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:0080857 primary ovarian insufficiency 1 ISO RGD:1313696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 1 PMID:25480036|PMID:25741868|PMID:31042289 12030319 MCM9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:1059 intellectual disability ISO RGD:1313696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24824130 12030319 MCM9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:10907 microcephaly ISO RGD:1313696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 12030319 MCM9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:12849 autistic disorder ISO RGD:1313696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:24824130 12030319 MCM9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:1826 epilepsy ISO RGD:1313696 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12030319 MCM9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:5426 primary ovarian insufficiency ISO RGD:1313696 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fragile x premature ovarian failure | ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25480036|PMID:25741868|PMID:28492532|PMID:31042289 12030319 MCM9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:630 genetic disease ISO RGD:1313696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12030319 MCM9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:684 hepatocellular carcinoma ISO RGD:1313697 D RGD:9068941 20220825 MouseDO OMIM:114550 12030319 MCM9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:9000495 Tremor ISO RGD:1313696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 12030319 MCM9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:9005363 Primary Ovarian Insufficiency, Fragile X-Associated ISO RGD:1313696 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Primary ovarian insufficiency, fragile X-associated PMID:25480036|PMID:25741868|PMID:31042289 12030336 LCN15 lipocalin 15 gene DOID:0050777 Joubert syndrome ISO RGD:1603824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12030336 LCN15 lipocalin 15 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1603824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12030336 LCN15 lipocalin 15 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1603824 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12030336 LCN15 lipocalin 15 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1603824 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12030336 LCN15 lipocalin 15 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1603824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12030336 LCN15 lipocalin 15 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1603824 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12030336 LCN15 lipocalin 15 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1603824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 12030336 LCN15 lipocalin 15 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1603824 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12030336 LCN15 lipocalin 15 gene DOID:0081097 Rafiq syndrome ISO RGD:1603824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12030336 LCN15 lipocalin 15 gene DOID:3652 Leigh disease ISO RGD:1603824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12030336 LCN15 lipocalin 15 gene DOID:630 genetic disease ISO RGD:1603824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12030336 LCN15 lipocalin 15 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1603824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12030353 PRH1 proline rich protein HaeIII subfamily 1 gene DOID:10283 prostate cancer ISO RGD:1343411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12030353 PRH1 proline rich protein HaeIII subfamily 1 gene DOID:630 genetic disease ISO RGD:1343411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12030362 SVOPL SVOP like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12030362 SVOPL SVOP like gene DOID:630 genetic disease ISO RGD:1603906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12030362 SVOPL SVOP like gene DOID:9008386 Hydrops Fetalis ISO RGD:1603906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 12030383 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0050712 AGAT deficiency ISO RGD:1347040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 12030383 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0050952 spastic ataxia ISO RGD:1347040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 12030383 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0060041 autism spectrum disorder ISO RGD:1347040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12030383 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0060197 juvenile amyotrophic lateral sclerosis 5 ISO RGD:1347040 D RGD:7240710 20180130 OMIM 12030383 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0060197 juvenile amyotrophic lateral sclerosis 5 ISO RGD:1347040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 5 PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18408091|PMID:18717728|PMID:18835492|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:20110243|PMID:20301389|PMID:20571989|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:23221952|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24451228|PMID:24731568|PMID:24833714|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26467025|PMID:26556829|PMID:26742954|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27790088|PMID:27900367|PMID:27957547|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28991695|PMID:29246610|PMID:29525178|PMID:29691679|PMID:29946510|PMID:29980238|PMID:30363882|PMID:30373780|PMID:31289639|PMID:31589614|PMID:31692161|PMID:32005694|PMID:32166880|PMID:32579787|PMID:32671691|PMID:32989326|PMID:33414559|PMID:33589474|PMID:33624863|PMID:34153142|PMID:9536098 12030383 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110176 Charcot-Marie-Tooth disease axonal type 2X ISO RGD:1347040 D RGD:7240710 20180130 OMIM 12030383 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110176 Charcot-Marie-Tooth disease axonal type 2X ISO RGD:1347040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2X | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2X PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18408091|PMID:18663179|PMID:18835492|PMID:19105190|PMID:19196735|PMID:19438933|PMID:19513778|PMID:20110243|PMID:20301389|PMID:20390432|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22696581|PMID:23443022|PMID:23812641|PMID:23881933|PMID:24731568|PMID:24833714|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26467025|PMID:26556829|PMID:26742954|PMID:27071356|PMID:27217339|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27900367|PMID:27957547|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:29246610|PMID:29525178|PMID:29691679|PMID:29980238|PMID:30363882|PMID:30373780|PMID:31289639|PMID:31692161|PMID:32005694|PMID:32166880|PMID:32989326|PMID:33414559|PMID:33589474|PMID:34153142|PMID:9536098 12030383 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1347040 D RGD:7240710 20180130 OMIM 12030383 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1347040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gait disturbance | ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:21035867|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:23043354|PMID:23121729|PMID:23443022|PMID:23733235|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:29246610|PMID:29342275|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30778698|PMID:31289639|PMID:31407473|PMID:31589614|PMID:31692161|PMID:32166880|PMID:32214227|PMID:32409511|PMID:32860008|PMID:32989326|PMID:34906502|PMID:9536098 12030383 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1347040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22406018|PMID:22696581|PMID:23043354|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26742954|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28991695|PMID:29246610|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29949766|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30564185|PMID:30609409|PMID:30778698|PMID:31227335|PMID:31289639|PMID:31407473|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32166880|PMID:32214227|PMID:32409511|PMID:32638105|PMID:32860008|PMID:32989326|PMID:33084218|PMID:33144682|PMID:33414559|PMID:33430805|PMID:33589474|PMID:33624863|PMID:34906502|PMID:35047667|PMID:9536098 12030383 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1347040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gait disturbance | ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:21035867|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:23043354|PMID:23121729|PMID:23221952|PMID:23438842|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:26755014|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28119845|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28991695|PMID:29246610|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29946510|PMID:29949766|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30564185|PMID:30609409|PMID:30778698|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32005694|PMID:32166880|PMID:32214227|PMID:32409511|PMID:32579787|PMID:32638105|PMID:32671691|PMID:32729724|PMID:32860008|PMID:32989326|PMID:33059505|PMID:33084218|PMID:33144682|PMID:33414559|PMID:33589474|PMID:33624863|PMID:33669240|PMID:34153142|PMID:34906502|PMID:35047667|PMID:9536098 12030383 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1347040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:21035867|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:23043354|PMID:23121729|PMID:23221952|PMID:23438842|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:26755014|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28119845|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28991695|PMID:29246610|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29946510|PMID:29949766|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30564185|PMID:30609409|PMID:30778698|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32005694|PMID:32007754|PMID:32166880|PMID:32214227|PMID:32409511|PMID:32579787|PMID:32638105|PMID:32671691|PMID:32729724|PMID:32860008|PMID:32989326|PMID:33059505|PMID:33084218|PMID:33098801|PMID:33144682|PMID:33414559|PMID:33589474|PMID:33624863|PMID:33669240|PMID:34153142|PMID:34906502|PMID:35047667|PMID:36139378|PMID:9536098 12030383 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1347040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:21035867|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:23043354|PMID:23121729|PMID:23221952|PMID:23438842|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:26755014|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28119845|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28991695|PMID:29246610|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29946510|PMID:29949766|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30564185|PMID:30609409|PMID:30778698|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32005694|PMID:32007754|PMID:32166880|PMID:32214227|PMID:32409511|PMID:32579787|PMID:32638105|PMID:32671691|PMID:32729724|PMID:32860008|PMID:32989326|PMID:33059505|PMID:33084218|PMID:33098801|PMID:33144682|PMID:33414559|PMID:33589474|PMID:33624863|PMID:33669240|PMID:34153142|PMID:34906502|PMID:35047667|PMID:35254204|PMID:36139378|PMID:9536098 12030383 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:1059 intellectual disability ISO RGD:1347040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17322883|PMID:17576681|PMID:18067136|PMID:25174650|PMID:25741868|PMID:26467025|PMID:27066562|PMID:27217339|PMID:28492532|PMID:9536098 12030383 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19196735|PMID:19438933|PMID:19466474|PMID:20110243|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22696581|PMID:23443022|PMID:23733235|PMID:24033266|PMID:24090761|PMID:24833714|PMID:25174650|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:27066562|PMID:27071356|PMID:27217339|PMID:27457812|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:27957547|PMID:28130640|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29980238|PMID:31289639|PMID:31407473|PMID:32166880|PMID:32409511|PMID:9536098 12030383 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18408091|PMID:18414213|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19196735|PMID:19438933|PMID:19466474|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:23733235|PMID:24033266|PMID:24090761|PMID:24833714|PMID:25174650|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26046366|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:27066562|PMID:27071356|PMID:27217339|PMID:27457812|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:27957547|PMID:28130640|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29980238|PMID:30609409|PMID:31289639|PMID:31407473|PMID:32166880|PMID:32409511|PMID:32579787|PMID:32671691|PMID:33589474|PMID:33624863|PMID:9536098 12030383 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19196735|PMID:19438933|PMID:19466474|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22696581|PMID:23221952|PMID:23443022|PMID:23733235|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26046366|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:26755014|PMID:27066562|PMID:27071356|PMID:27217339|PMID:27457812|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:27957547|PMID:28130640|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29980238|PMID:30212743|PMID:30609409|PMID:30778698|PMID:31289639|PMID:31407473|PMID:32005694|PMID:32166880|PMID:32409511|PMID:32579787|PMID:32671691|PMID:33098801|PMID:33589474|PMID:33624863|PMID:35254204|PMID:35464835|PMID:36139378|PMID:9536098 12030383 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:2717 Bloom syndrome ISO RGD:1347040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12030383 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1347040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:18337587|PMID:19466474|PMID:22696581|PMID:23733235|PMID:24833714|PMID:25588603|PMID:25741868|PMID:26374131|PMID:26467025|PMID:27790088|PMID:27884173|PMID:27904835|PMID:28130640|PMID:28492532|PMID:31407473|PMID:33098801|PMID:33414559|PMID:35254204|PMID:36139378 12030383 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:607 paraplegia ISO RGD:1347040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:19105190|PMID:20110243|PMID:20301389|PMID:21381113|PMID:22154821|PMID:23043354|PMID:23733235|PMID:25741868|PMID:26556829|PMID:28492532 12030383 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:630 genetic disease ISO RGD:1347040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18414213|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19917823|PMID:20110243|PMID:20301389|PMID:21381113|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:23043354|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24090761|PMID:24482476|PMID:24833714|PMID:25174650|PMID:25588603|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27180005|PMID:27217339|PMID:27318863|PMID:27457812|PMID:28160950|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29908077|PMID:29949766|PMID:29980238|PMID:30564185|PMID:31227335|PMID:31289639|PMID:31900114|PMID:32166880|PMID:32214227|PMID:32409511|PMID:33414559|PMID:33430805|PMID:33589474|PMID:33624863|PMID:35047667|PMID:9536098 12030383 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:630 genetic disease ISO RGD:1347040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18414213|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20571989|PMID:21381113|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22696581|PMID:23043354|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24090761|PMID:24482476|PMID:24833714|PMID:25174650|PMID:25299611|PMID:25588603|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27180005|PMID:27217339|PMID:27318863|PMID:27457812|PMID:27790088|PMID:27900367|PMID:28160950|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29908077|PMID:29949766|PMID:29980238|PMID:30564185|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31900114|PMID:32005694|PMID:32166880|PMID:32214227|PMID:32409511|PMID:32729724|PMID:33098801|PMID:33414559|PMID:33589474|PMID:33624863|PMID:33669240|PMID:35047667|PMID:35254204|PMID:36139378|PMID:9536098 12030383 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:9256 colorectal cancer ISO RGD:1347040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12030450 CAPN14 calpain 14 gene DOID:13922 eosinophilic esophagitis ISO RGD:1352333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25017104 12030450 CAPN14 calpain 14 gene DOID:13922 eosinophilic esophagitis ISO RGD:1352333 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:25407941|REF_RGD_ID:11100048 12030450 CAPN14 calpain 14 gene DOID:13922 eosinophilic esophagitis ISO RGD:1352333 D RGD:9068941 20200609 RGD mRNA:increased expression:esophagus PMID:25017104|REF_RGD_ID:11100049 12030450 CAPN14 calpain 14 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1352333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532 12030450 CAPN14 calpain 14 gene DOID:630 genetic disease ISO RGD:1352333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12030491 CRYBA2 crystallin beta A2 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1343426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12030491 CRYBA2 crystallin beta A2 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1343426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12030491 CRYBA2 crystallin beta A2 gene DOID:0110237 cataract 42 ISO RGD:1343426 D RGD:7240710 20180130 OMIM 12030491 CRYBA2 crystallin beta A2 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1343426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12030491 CRYBA2 crystallin beta A2 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1343426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12030491 CRYBA2 crystallin beta A2 gene DOID:630 genetic disease ISO RGD:1343426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12030491 CRYBA2 crystallin beta A2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12030507 P4HB prolyl 4-hydroxylase subunit beta gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:733481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 12030507 P4HB prolyl 4-hydroxylase subunit beta gene DOID:0060438 Cole-Carpenter syndrome ISO RGD:733481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cole-Carpenter syndrome PMID:25741868 12030507 P4HB prolyl 4-hydroxylase subunit beta gene DOID:11476 osteoporosis ISO RGD:733481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12030507 P4HB prolyl 4-hydroxylase subunit beta gene DOID:630 genetic disease ISO RGD:733481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12030507 P4HB prolyl 4-hydroxylase subunit beta gene DOID:9002304 Prostatic Neoplasms ISO RGD:733481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12030507 P4HB prolyl 4-hydroxylase subunit beta gene DOID:9007102 Myocardial Ischemia ISO RGD:733481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12030507 P4HB prolyl 4-hydroxylase subunit beta gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12030507 P4HB prolyl 4-hydroxylase subunit beta gene DOID:9009043 Cole-Carpenter Syndrome 1 ISO RGD:733481 D RGD:7240710 20180130 OMIM 12030507 P4HB prolyl 4-hydroxylase subunit beta gene DOID:9009043 Cole-Carpenter Syndrome 1 ISO RGD:733481 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 PMID:25683117|PMID:25741868|PMID:28492532 12030525 THOC2 THO complex subunit 2 gene DOID:0060706 X-linked lymphoproliferative syndrome 2 ISO RGD:1353819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked PMID:17080092|PMID:17989220|PMID:21119115|PMID:25666262|PMID:26581487|PMID:28492532 12030525 THOC2 THO complex subunit 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12030525 THOC2 THO complex subunit 2 gene DOID:0112056 X-linked intellectual disability-short stature-overweight syndrome ISO RGD:1353819 D RGD:7240710 20180130 OMIM 12030525 THOC2 THO complex subunit 2 gene DOID:0112056 X-linked intellectual disability-short stature-overweight syndrome ISO RGD:1353819 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability-short stature-overweight syndrome PMID:1605217|PMID:25741868|PMID:26166480|PMID:28492532|PMID:8825049 12030525 THOC2 THO complex subunit 2 gene DOID:1059 intellectual disability ISO RGD:1353819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12030525 THOC2 THO complex subunit 2 gene DOID:12849 autistic disorder ISO RGD:1353819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12030525 THOC2 THO complex subunit 2 gene DOID:630 genetic disease ISO RGD:1353819 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12030525 THOC2 THO complex subunit 2 gene DOID:9003937 X Chromosome, Trisomy Xq25 ISO RGD:1353819 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Xq25 duplication syndrome 12030525 THOC2 THO complex subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12030591 EPS8L2 EPS8 like 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1322090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12030591 EPS8L2 EPS8 like 2 gene DOID:0050729 neutral lipid storage disease ISO RGD:1322090 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 12030591 EPS8L2 EPS8 like 2 gene DOID:0080261 autosomal recessive nonsyndromic deafness 106 ISO RGD:1322090 D RGD:7240710 20190315 OMIM 12030591 EPS8L2 EPS8 like 2 gene DOID:0080261 autosomal recessive nonsyndromic deafness 106 ISO RGD:1322090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 106 PMID:25741868|PMID:26282398|PMID:28281779|PMID:28492532|PMID:32747562 12030591 EPS8L2 EPS8 like 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1322090 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12030591 EPS8L2 EPS8 like 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:1322090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12030591 EPS8L2 EPS8 like 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1322090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12030591 EPS8L2 EPS8 like 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1322090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12030591 EPS8L2 EPS8 like 2 gene DOID:630 genetic disease ISO RGD:1322090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 12030591 EPS8L2 EPS8 like 2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1322090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12030651 SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 gene DOID:1227 neutropenia ISO RGD:734113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28369036 12030651 SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:734113 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868|PMID:33025377 12030651 SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 gene DOID:630 genetic disease ISO RGD:734113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12030651 SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 gene DOID:8692 myeloid leukemia ISO RGD:734113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28369036 12030651 SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:734113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28369034|PMID:28369036 12030651 SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 gene DOID:9006809 Specific Granule Deficiency 2 ISO RGD:734113 D RGD:7240710 20190327 OMIM 12030651 SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 gene DOID:9006809 Specific Granule Deficiency 2 ISO RGD:734113 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Specific granule deficiency 2 PMID:25741868|PMID:28369036|PMID:28492532|PMID:33025377|PMID:35320004 12030651 SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 gene DOID:9009082 Specific Granule Deficiency 1 ISO RGD:734113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Specific granule deficiency 1 PMID:28369036 12030668 GZF1 GDNF inducible zinc finger protein 1 gene DOID:630 genetic disease ISO RGD:1318777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12030668 GZF1 GDNF inducible zinc finger protein 1 gene DOID:9001623 JOINT LAXITY, SHORT STATURE, AND MYOPIA ISO RGD:1318777 D RGD:7240710 20190315 OMIM 12030668 GZF1 GDNF inducible zinc finger protein 1 gene DOID:9001623 JOINT LAXITY, SHORT STATURE, AND MYOPIA ISO RGD:1318777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joint laxity, short stature, and myopia PMID:25741868|PMID:28475863|PMID:28492532|PMID:35802133|PMID:36633841 12030685 ACER2 alkaline ceramidase 2 gene DOID:630 genetic disease ISO RGD:1312176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12030706 BTBD19 BTB domain containing 19 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:3031244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12030706 BTBD19 BTB domain containing 19 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:3031244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12030706 BTBD19 BTB domain containing 19 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:3031244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12030706 BTBD19 BTB domain containing 19 gene DOID:630 genetic disease ISO RGD:3031244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12030721 DENND1A DENN domain containing 1A gene DOID:630 genetic disease ISO RGD:1317405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12030759 SIN3A SIN3 transcription regulator family member A gene DOID:0060041 autism spectrum disorder ISO RGD:1323140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27399968 12030759 SIN3A SIN3 transcription regulator family member A gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1323140 D RGD:7240710 20190315 OMIM 12030759 SIN3A SIN3 transcription regulator family member A gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1323140 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome | ClinVar Annotator: match by term: SIN3A-related intellectual disability syndrome | ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106|PMID:25741868|PMID:27399968|PMID:28492532|PMID:30267900 12030759 SIN3A SIN3 transcription regulator family member A gene DOID:1059 intellectual disability ISO RGD:1323140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27399968 12030759 SIN3A SIN3 transcription regulator family member A gene DOID:10907 microcephaly ISO RGD:1323140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27399968 12030759 SIN3A SIN3 transcription regulator family member A gene DOID:10908 hydrocephalus ISO RGD:1323140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27399968 12030759 SIN3A SIN3 transcription regulator family member A gene DOID:12849 autistic disorder ISO RGD:1323140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 12030759 SIN3A SIN3 transcription regulator family member A gene DOID:12858 Huntington's disease ISO RGD:1323140 D RGD:9068941 20200609 RGD protein:altered localization:cytoplasm PMID:10441327|REF_RGD_ID:5688338 12030759 SIN3A SIN3 transcription regulator family member A gene DOID:1826 epilepsy ISO RGD:1323140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12030759 SIN3A SIN3 transcription regulator family member A gene DOID:224 transient cerebral ischemia ISO RGD:1311598 D RGD:9068941 20200609 RGD PMID:24063527|REF_RGD_ID:9495912 12030759 SIN3A SIN3 transcription regulator family member A gene DOID:2717 Bloom syndrome ISO RGD:1323140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12030759 SIN3A SIN3 transcription regulator family member A gene DOID:5419 schizophrenia ISO RGD:1323140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12030759 SIN3A SIN3 transcription regulator family member A gene DOID:630 genetic disease ISO RGD:1323140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12030759 SIN3A SIN3 transcription regulator family member A gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1323140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27399968 12030759 SIN3A SIN3 transcription regulator family member A gene DOID:9002211 Hyperalgesia ISO RGD:1311598 D RGD:9068941 20200609 RGD associated with Arthritis, Experimental;mRNA:decreased expression:spinal cord, neuron PMID:17553988|REF_RGD_ID:9495916 12030759 SIN3A SIN3 transcription regulator family member A gene DOID:9002231 Fetal Growth Retardation ISO RGD:1311598 D RGD:9068941 20200609 RGD PMID:18464933|REF_RGD_ID:2311214 12030759 SIN3A SIN3 transcription regulator family member A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12030759 SIN3A SIN3 transcription regulator family member A gene DOID:9007661 Dwarfism ISO RGD:1323140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27399968 12030759 SIN3A SIN3 transcription regulator family member A gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1323140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27399968 12030759 SIN3A SIN3 transcription regulator family member A gene DOID:9256 colorectal cancer ISO RGD:1323140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12030793 KRT84 keratin 84 gene DOID:630 genetic disease ISO RGD:1343377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12030806 DOCK2 dedicator of cytokinesis 2 gene DOID:0111951 immunodeficiency 40 ISO RGD:1323174 D RGD:7240710 20180130 OMIM 12030806 DOCK2 dedicator of cytokinesis 2 gene DOID:0111951 immunodeficiency 40 ISO RGD:1323174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:16199547|PMID:17576681|PMID:25741868|PMID:26083206|PMID:28492532|PMID:29204803|PMID:9536098 12030806 DOCK2 dedicator of cytokinesis 2 gene DOID:10283 prostate cancer ISO RGD:1323174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12030806 DOCK2 dedicator of cytokinesis 2 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1323174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23525077 12030806 DOCK2 dedicator of cytokinesis 2 gene DOID:630 genetic disease ISO RGD:1323174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12030806 DOCK2 dedicator of cytokinesis 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1323174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12030862 TM4SF20 transmembrane 4 L six family member 20 gene DOID:630 genetic disease ISO RGD:1605628 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12030862 TM4SF20 transmembrane 4 L six family member 20 gene DOID:9004636 Specific Language Impairment 5 ISO RGD:1605628 D RGD:7240710 20180130 OMIM 12030862 TM4SF20 transmembrane 4 L six family member 20 gene DOID:9004636 Specific Language Impairment 5 ISO RGD:1605628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Specific language impairment 5 PMID:19557438|PMID:20848651|PMID:23806086|PMID:23810381|PMID:24088043|PMID:25741868 12030870 LRRIQ1 leucine rich repeats and IQ motif containing 1 gene DOID:630 genetic disease ISO RGD:1343054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12030899 SH3PXD2A SH3 and PX domains 2A gene DOID:0060224 atrial fibrillation ISO RGD:1322510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28416822 12030899 SH3PXD2A SH3 and PX domains 2A gene DOID:630 genetic disease ISO RGD:1322510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12030899 SH3PXD2A SH3 and PX domains 2A gene DOID:9007096 Stroke ISO RGD:1322510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 12030912 SS18 SS18 subunit of BAF chromatin remodeling complex gene DOID:1059 intellectual disability ISO RGD:1323627 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12030912 SS18 SS18 subunit of BAF chromatin remodeling complex gene DOID:5485 synovial sarcoma ISO RGD:1323627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27572315|PMID:9428816 12030912 SS18 SS18 subunit of BAF chromatin remodeling complex gene DOID:5485 synovial sarcoma ISO RGD:1323627 D RGD:9068941 20200609 RGD PMID:7951320|REF_RGD_ID:1599184 12030912 SS18 SS18 subunit of BAF chromatin remodeling complex gene DOID:630 genetic disease ISO RGD:1323627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12030936 ARFGAP2 ADP ribosylation factor GTPase activating protein 2 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1314646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12030936 ARFGAP2 ADP ribosylation factor GTPase activating protein 2 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1314646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 12030936 ARFGAP2 ADP ribosylation factor GTPase activating protein 2 gene DOID:1059 intellectual disability ISO RGD:1314646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12030936 ARFGAP2 ADP ribosylation factor GTPase activating protein 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314646 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12030936 ARFGAP2 ADP ribosylation factor GTPase activating protein 2 gene DOID:630 genetic disease ISO RGD:1314646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12030936 ARFGAP2 ADP ribosylation factor GTPase activating protein 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1314646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12030936 ARFGAP2 ADP ribosylation factor GTPase activating protein 2 gene DOID:9000918 Disease Progression ISO RGD:1314646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12030960 MOG myelin oligodendrocyte glycoprotein gene DOID:11372 megacolon ISO RGD:736817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12030960 MOG myelin oligodendrocyte glycoprotein gene DOID:1210 optic neuritis ISO RGD:3102 D RGD:9068941 20200609 RGD PMID:23860028|REF_RGD_ID:9685554 12030960 MOG myelin oligodendrocyte glycoprotein gene DOID:1210 optic neuritis ISO RGD:736817 D RGD:9068941 20200609 RGD PMID:22157536|REF_RGD_ID:9685553 12030960 MOG myelin oligodendrocyte glycoprotein gene DOID:2377 multiple sclerosis ISO RGD:736817 D RGD:9068941 20200609 RGD PMID:17142321|REF_RGD_ID:9685374 12030960 MOG myelin oligodendrocyte glycoprotein gene DOID:3213 demyelinating disease ISO RGD:736817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23360710|PMID:23547115 12030960 MOG myelin oligodendrocyte glycoprotein gene DOID:630 genetic disease ISO RGD:736817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12030960 MOG myelin oligodendrocyte glycoprotein gene DOID:8986 narcolepsy ISO RGD:736817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12030960 MOG myelin oligodendrocyte glycoprotein gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10909 D RGD:9068941 20200609 RGD PMID:14624757|REF_RGD_ID:9685375 12030960 MOG myelin oligodendrocyte glycoprotein gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3102 D RGD:9068941 20200609 RGD PMID:10384097|PMID:12799014|REF_RGD_ID:9685372|REF_RGD_ID:9685373 12030960 MOG myelin oligodendrocyte glycoprotein gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:736817 D RGD:9068941 20200609 RGD PMID:14624757|REF_RGD_ID:9685375 12030960 MOG myelin oligodendrocyte glycoprotein gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:736817 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:12904460|PMID:16931536|PMID:17654737|PMID:17728465|PMID:18566399|PMID:18667803|PMID:21068375|PMID:21317386|PMID:21341682|PMID:23360710|PMID:23547115|PMID:23639249|PMID:30661753 12030960 MOG myelin oligodendrocyte glycoprotein gene DOID:9005246 Paralysis ISO RGD:736817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23547115 12030960 MOG myelin oligodendrocyte glycoprotein gene DOID:9006506 Narcolepsy 7 ISO RGD:736817 D RGD:7240710 20180130 OMIM 12030960 MOG myelin oligodendrocyte glycoprotein gene DOID:9006506 Narcolepsy 7 ISO RGD:736817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Narcolepsy 7 PMID:21907016|PMID:25741868 12030960 MOG myelin oligodendrocyte glycoprotein gene DOID:9007553 neurotoxicity treatment ISO RGD:3102 D RGD:9068941 20230323 RGD PMID:33166664|REF_RGD_ID:213230154 12030982 PGM1 phosphoglucomutase 1 gene DOID:0080570 congenital disorder of glycosylation It ISO RGD:734179 D RGD:7240710 20180130 OMIM 12030982 PGM1 phosphoglucomutase 1 gene DOID:0080570 congenital disorder of glycosylation It ISO RGD:734179 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1t | ClinVar Annotator: match by term: Glycogen storage disease XIV PMID:16199547|PMID:17576681|PMID:19625727|PMID:22492991|PMID:22976764|PMID:24499211|PMID:25288802|PMID:25741868|PMID:26768186|PMID:27206562|PMID:28117557|PMID:28492532|PMID:28617415|PMID:29858906|PMID:30122451|PMID:33342467|PMID:33413482|PMID:33473337|PMID:34782754|PMID:9536098 12030982 PGM1 phosphoglucomutase 1 gene DOID:1059 intellectual disability ISO RGD:734179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12030982 PGM1 phosphoglucomutase 1 gene DOID:1380 endometrial cancer ISO RGD:734179 D RGD:9068941 20200609 RGD PMID:508567|REF_RGD_ID:2299870 12030982 PGM1 phosphoglucomutase 1 gene DOID:3307 teratoma ISO RGD:734179 D RGD:9068941 20200609 RGD PMID:5259759|REF_RGD_ID:2299871 12030982 PGM1 phosphoglucomutase 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:734179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:25741868|PMID:28492532 12030982 PGM1 phosphoglucomutase 1 gene DOID:630 genetic disease ISO RGD:734179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24499211|PMID:25741868|PMID:28117557|PMID:28492532|PMID:30122451 12030982 PGM1 phosphoglucomutase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:734179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12030982 PGM1 phosphoglucomutase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12030982 PGM1 phosphoglucomutase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:734179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 12030997 AADAC arylacetamide deacetylase gene DOID:0110636 congenital merosin-deficient muscular dystrophy 1A ISO RGD:737554 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital merosin-deficient muscular dystrophy 1A PMID:21681106|PMID:25666259|PMID:27854218 12030997 AADAC arylacetamide deacetylase gene DOID:5426 primary ovarian insufficiency ISO RGD:737554 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary Ovarian Insufficiency PMID:21681106|PMID:25666259|PMID:27854218 12030997 AADAC arylacetamide deacetylase gene DOID:630 genetic disease ISO RGD:737554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12030997 AADAC arylacetamide deacetylase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12030997 AADAC arylacetamide deacetylase gene DOID:9006101 Primary Ovarian Failure ISO RGD:737554 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary ovarian failure PMID:21681106|PMID:25666259|PMID:27854218 12031007 HOXA6 homeobox A6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12031007 HOXA6 homeobox A6 gene DOID:630 genetic disease ISO RGD:1352106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12031013 MYLK myosin light chain kinase gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:28492532 12031013 MYLK myosin light chain kinase gene DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome | ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal PMID:24033266|PMID:25333361|PMID:25637381|PMID:25741868|PMID:27879251|PMID:28492532|PMID:28602422 12031013 MYLK myosin light chain kinase gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1322095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12031013 MYLK myosin light chain kinase gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visceral myopathy PMID:28602422 12031013 MYLK myosin light chain kinase gene DOID:0080682 autosomal dominant familial visceral neuropathy ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal PMID:28602422 12031013 MYLK myosin light chain kinase gene DOID:0080685 aortic dissection ISO RGD:1322095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic dissection PMID:25326637|PMID:25741868|PMID:28492532|PMID:30755392 12031013 MYLK myosin light chain kinase gene DOID:10283 prostate cancer ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12031013 MYLK myosin light chain kinase gene DOID:11394 adult respiratory distress syndrome ISO RGD:1322095 D RGD:9068941 20211126 RGD DNA:missense mutations, silent mutation:CDS:p.H21P, p.P147S, p.T335T (human) PMID:18828194|REF_RGD_ID:4891491 12031013 MYLK myosin light chain kinase gene DOID:1205 allergic disease ISO RGD:1322095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15621374 12031013 MYLK myosin light chain kinase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322095 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25637381|PMID:25741868|PMID:25944730|PMID:27879251|PMID:28139901|PMID:28166811|PMID:28492532|PMID:28512736|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29907982|PMID:29961567|PMID:33895855|PMID:9536098 12031013 MYLK myosin light chain kinase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28139901|PMID:28166811|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29907982|PMID:29961567|PMID:30056620|PMID:31296287|PMID:33895855|PMID:9536098 12031013 MYLK myosin light chain kinase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322095 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27854218|PMID:27879251|PMID:28139901|PMID:28166811|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:31296287|PMID:33895855|PMID:9536098 12031013 MYLK myosin light chain kinase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30755392|PMID:31296287|PMID:33895855|PMID:9536098 12031013 MYLK myosin light chain kinase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30755392|PMID:31296287|PMID:33895855|PMID:34422331|PMID:9536098 12031013 MYLK myosin light chain kinase gene DOID:14323 Marfan syndrome ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 12031013 MYLK myosin light chain kinase gene DOID:1686 glaucoma ISO RGD:1322095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20375339 12031013 MYLK myosin light chain kinase gene DOID:178 vascular disease ISO RGD:1322095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18511912 12031013 MYLK myosin light chain kinase gene DOID:1882 atrial heart septal defect ISO RGD:1322095 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:21055718|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29543232|PMID:29544503|PMID:29961567 12031013 MYLK myosin light chain kinase gene DOID:2841 asthma ISO RGD:1322095 D RGD:9068941 20200609 RGD PMID:17472811|REF_RGD_ID:4891492 12031013 MYLK myosin light chain kinase gene DOID:3070 high grade glioma ISO RGD:1322095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10232591 12031013 MYLK myosin light chain kinase gene DOID:3627 aortic aneurysm ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial aortic aneurysms PMID:26017485|PMID:28492532 12031013 MYLK myosin light chain kinase gene DOID:4724 brain edema ISO RGD:1322095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19943851 12031013 MYLK myosin light chain kinase gene DOID:552 pneumonia ISO RGD:1322095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15863634 12031013 MYLK myosin light chain kinase gene DOID:630 genetic disease ISO RGD:1322095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12031013 MYLK myosin light chain kinase gene DOID:65 connective tissue disease ISO RGD:1322095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:21055718|PMID:24033266|PMID:25741868|PMID:26854089|PMID:27879251|PMID:28492532 12031013 MYLK myosin light chain kinase gene DOID:77 gastrointestinal system disease ISO RGD:1322095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15621374 12031013 MYLK myosin light chain kinase gene DOID:807 carotid artery occlusion ISO RGD:1322095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carotid artery occlusion PMID:25326637|PMID:25741868|PMID:28492532|PMID:30755392 12031013 MYLK myosin light chain kinase gene DOID:9000654 Aortic Aneurysm, Familial Abdominal 1 ISO RGD:1322095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial abdominal, 1 PMID:28492532 12031013 MYLK myosin light chain kinase gene DOID:9000669 Ventricular Dysfunction, Right ISO RGD:1322095 D RGD:9068941 20200609 RGD PMID:20035030|REF_RGD_ID:4891489 12031013 MYLK myosin light chain kinase gene DOID:9000669 Ventricular Dysfunction, Right ISO RGD:1616651 D RGD:9068941 20200609 RGD PMID:20035030|REF_RGD_ID:4891489 12031013 MYLK myosin light chain kinase gene DOID:9000719 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 ISO RGD:1322095 D RGD:7240710 20210602 OMIM 12031013 MYLK myosin light chain kinase gene DOID:9000719 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 ISO RGD:1322095 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25637381|PMID:25741868|PMID:26017485|PMID:27146836|PMID:27153395|PMID:27879251|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28602422|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30755392|PMID:33895855|PMID:34422331|PMID:9536098 12031013 MYLK myosin light chain kinase gene DOID:9000808 Hypercholesterolemia ISO RGD:1322095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21052790 12031013 MYLK myosin light chain kinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1322095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12970723|PMID:18710790 12031013 MYLK myosin light chain kinase gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 12031013 MYLK myosin light chain kinase gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 12031013 MYLK myosin light chain kinase gene DOID:9004484 Sepsis ISO RGD:1322095 D RGD:9068941 20200609 RGD PMID:16399953|REF_RGD_ID:1581052 12031013 MYLK myosin light chain kinase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1322095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10232591|PMID:12970723 12031013 MYLK myosin light chain kinase gene DOID:9004610 Acute Lung Injury ISO RGD:1322095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19374788 12031013 MYLK myosin light chain kinase gene DOID:9004610 Acute Lung Injury ISO RGD:1322095 D RGD:9068941 20200609 RGD associated with Sepsis PMID:16399953|REF_RGD_ID:1581052 12031013 MYLK myosin light chain kinase gene DOID:9005890 Disproportionate Tall Stature ISO RGD:1322095 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Disproportionate tall stature PMID:25741868 12031013 MYLK myosin light chain kinase gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1322095 D RGD:7240710 20180130 OMIM 12031013 MYLK myosin light chain kinase gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1322095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:11029314|PMID:16199547|PMID:16399953|PMID:17576681|PMID:21055718|PMID:21520333|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25907466|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27879251|PMID:28074886|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28401540|PMID:28492532|PMID:28512736|PMID:28602422|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30755392|PMID:31296287|PMID:33895855|PMID:34422331|PMID:9536098 12031013 MYLK myosin light chain kinase gene DOID:9007096 Stroke ISO RGD:1322095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stroke PMID:25326637|PMID:25741868|PMID:28492532|PMID:30755392 12031013 MYLK myosin light chain kinase gene DOID:9007234 Carotid Artery Dissection, Internal ISO RGD:1322095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Internal carotid artery dissection PMID:25326637|PMID:25741868|PMID:28492532|PMID:30755392 12031013 MYLK myosin light chain kinase gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AAT1 | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:25637381|PMID:25741868|PMID:27879251|PMID:28492532 12031013 MYLK myosin light chain kinase gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 12031013 MYLK myosin light chain kinase gene DOID:9270 alkaptonuria ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12031013 MYLK myosin light chain kinase gene DOID:9348 carotid artery dissection ISO RGD:1322095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carotid artery dissection PMID:25326637|PMID:25741868|PMID:28492532|PMID:30755392 12031049 MYH10 myosin heavy chain 10 gene DOID:0060041 autism spectrum disorder ISO RGD:1353980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12031049 MYH10 myosin heavy chain 10 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1353980 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9678433 12031049 MYH10 myosin heavy chain 10 gene DOID:630 genetic disease ISO RGD:1353980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12031049 MYH10 myosin heavy chain 10 gene DOID:9003133 Hypertelorism ISO RGD:1353980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism 12031049 MYH10 myosin heavy chain 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12031049 MYH10 myosin heavy chain 10 gene DOID:9008086 Developmental Disabilities ISO RGD:1353980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12031049 MYH10 myosin heavy chain 10 gene DOID:9970 obesity ISO RGD:1353980 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 12031096 HOOK2 hook microtubule tethering protein 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1320916 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12031096 HOOK2 hook microtubule tethering protein 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1320916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12031096 HOOK2 hook microtubule tethering protein 2 gene DOID:0111254 glutaric acidemia I ISO RGD:1320916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12031096 HOOK2 hook microtubule tethering protein 2 gene DOID:3413 alpha-mannosidosis ISO RGD:1320916 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12031096 HOOK2 hook microtubule tethering protein 2 gene DOID:630 genetic disease ISO RGD:1320916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12031138 TBC1D7 TBC1 domain family member 7 gene DOID:0112206 developmental and epileptic encephalopathy 70 ISO RGD:1316981 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 70 PMID:23033978|PMID:25741868|PMID:30256902|PMID:33463715 12031138 TBC1D7 TBC1 domain family member 7 gene DOID:630 genetic disease ISO RGD:1316981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12031138 TBC1D7 TBC1 domain family member 7 gene DOID:9003816 Macrocephaly ISO RGD:1316981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly 12031138 TBC1D7 TBC1 domain family member 7 gene DOID:9005840 Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive ISO RGD:1316981 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Macrocephaly/megalencephaly syndrome, autosomal recessive PMID:23687350|PMID:24515783|PMID:25741868|PMID:28492532 12031170 ACSL5 acyl-CoA synthetase long chain family member 5 gene DOID:630 genetic disease ISO RGD:1604361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12031170 ACSL5 acyl-CoA synthetase long chain family member 5 gene DOID:9002457 Experimental Arthritis ISO RGD:1604361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988084 12031170 ACSL5 acyl-CoA synthetase long chain family member 5 gene DOID:9005374 Diarrhea 13 ISO RGD:1604361 D RGD:7240710 20230505 OMIM 12031198 MVK mevalonate kinase gene DOID:0050452 mevalonic aciduria ISO RGD:732031 D RGD:7240710 20180130 OMIM 12031198 MVK mevalonate kinase gene DOID:0050452 mevalonic aciduria ISO RGD:732031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyperimmunoglobulinemia D | ClinVar Annotator: match by term: Mevalonic aciduria | ClinVar Annotator: match by term: Periodic fever Dutch type PMID:10369261|PMID:10369262|PMID:10401001|PMID:10417275|PMID:10896296|PMID:11111075|PMID:11313768|PMID:11313769|PMID:12387810|PMID:12444096|PMID:12563048|PMID:12634869|PMID:13130485|PMID:1377680|PMID:15149516|PMID:15188372|PMID:15457465|PMID:15536479|PMID:15804303|PMID:16197847|PMID:16199547|PMID:16255052|PMID:16435210|PMID:16707534|PMID:16835861|PMID:17105862|PMID:17171314|PMID:17576681|PMID:18414213|PMID:18839211|PMID:19011501|PMID:19786432|PMID:19877056|PMID:20194276|PMID:21225694|PMID:21228398|PMID:21399979|PMID:21425920|PMID:21478439|PMID:21548022|PMID:21708801|PMID:22038276|PMID:22246419|PMID:22271696|PMID:22566169|PMID:22983302|PMID:23006543|PMID:23146290|PMID:23692791|PMID:23707710|PMID:23834120|PMID:23979089|PMID:23998246|PMID:24033266|PMID:24084495|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24411001|PMID:24470648|PMID:24531851|PMID:24561416|PMID:24656624|PMID:25677409|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26202976|PMID:26299986|PMID:26386126|PMID:26409462|PMID:26633545|PMID:26935981|PMID:26977311|PMID:26986117|PMID:27012807|PMID:27142780|PMID:27213830|PMID:28095071|PMID:28359055|PMID:28492532|PMID:28501347|PMID:28638818|PMID:28814775|PMID:29047407|PMID:29290516|PMID:30148429|PMID:31096039|PMID:31278138|PMID:31325964|PMID:31474985|PMID:32060250|PMID:32822427|PMID:33168400|PMID:33917151|PMID:34145613|PMID:34751146|PMID:35387795|PMID:8386351|PMID:9334262|PMID:9536098 12031198 MVK mevalonate kinase gene DOID:0050486 exanthem ISO RGD:732031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10369261 12031198 MVK mevalonate kinase gene DOID:0060743 methylmalonic acidemia cblB type ISO RGD:732031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblB type PMID:15781192|PMID:16199547|PMID:16410054|PMID:20556797|PMID:23707710|PMID:24033266|PMID:25741868|PMID:27591164|PMID:28492532|PMID:30022420|PMID:34796408 12031198 MVK mevalonate kinase gene DOID:0110936 nemaline myopathy 5 ISO RGD:732031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5 PMID:16835861|PMID:22246419|PMID:23006543|PMID:24411001|PMID:25741868|PMID:28492532 12031198 MVK mevalonate kinase gene DOID:0111664 ectodermal dysplasia 1 ISO RGD:732031 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia PMID:25741868 12031198 MVK mevalonate kinase gene DOID:14749 methylmalonic acidemia ISO RGD:732031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:24033266|PMID:25741868|PMID:28492532 12031198 MVK mevalonate kinase gene DOID:2935 Chediak-Higashi syndrome ISO RGD:732031 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:10369261|PMID:10369262|PMID:10401001|PMID:10417275|PMID:11111075|PMID:11313769|PMID:12444096|PMID:12634869|PMID:1377680|PMID:15536479|PMID:16255052|PMID:16835861|PMID:17105862|PMID:18414213|PMID:19011501|PMID:21228398|PMID:21425920|PMID:22038276|PMID:22246419|PMID:23006543|PMID:23692791|PMID:23979089|PMID:24033266|PMID:24084495|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24411001|PMID:24470648|PMID:24561416|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26299986|PMID:26633545|PMID:26977311|PMID:26986117|PMID:27142780|PMID:27213830|PMID:28359055|PMID:28492532|PMID:32822427|PMID:33917151|PMID:35387795 12031198 MVK mevalonate kinase gene DOID:2935 Chediak-Higashi syndrome ISO RGD:732031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10369261|PMID:10369262|PMID:10401001|PMID:10417275|PMID:11111075|PMID:11313769|PMID:12444096|PMID:12634869|PMID:1377680|PMID:15149516|PMID:15188372|PMID:15536479|PMID:16255052|PMID:16835861|PMID:17105862|PMID:18414213|PMID:18839211|PMID:19011501|PMID:20194276|PMID:21228398|PMID:21425920|PMID:22038276|PMID:22246419|PMID:23006543|PMID:23692791|PMID:23834120|PMID:23979089|PMID:24033266|PMID:24084495|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24411001|PMID:24470648|PMID:24561416|PMID:24656624|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26299986|PMID:26409462|PMID:26633545|PMID:26977311|PMID:26986117|PMID:27142780|PMID:27213830|PMID:28359055|PMID:28492532|PMID:28638818|PMID:29047407|PMID:29290516|PMID:31474985|PMID:32060250|PMID:32822427|PMID:33917151|PMID:34145613|PMID:35387795 12031198 MVK mevalonate kinase gene DOID:3146 lipid metabolism disorder ISO RGD:732031 D RGD:9068941 20200609 RGD mevalonic aciduria, OMIM:610377, DNA:point mutation:exon:N301T PMID:1377680|REF_RGD_ID:1600528 12031198 MVK mevalonate kinase gene DOID:630 genetic disease ISO RGD:732031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10369261|PMID:10369262|PMID:10401001|PMID:10417275|PMID:11313769|PMID:12444096|PMID:12634869|PMID:15149516|PMID:15536479|PMID:17105862|PMID:18839211|PMID:19011501|PMID:21228398|PMID:21425920|PMID:22038276|PMID:23692791|PMID:23979089|PMID:24033266|PMID:24084495|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24470648|PMID:24561416|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26409462|PMID:26633545|PMID:26977311|PMID:26986117|PMID:27142780|PMID:27213830|PMID:28359055|PMID:28492532|PMID:28814775|PMID:29290516|PMID:31278138|PMID:31474985|PMID:32060250|PMID:32822427|PMID:33917151|PMID:34145613|PMID:35387795 12031198 MVK mevalonate kinase gene DOID:684 hepatocellular carcinoma ISO RGD:732031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 12031198 MVK mevalonate kinase gene DOID:8501 fundus dystrophy ISO RGD:732031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15457465 12031198 MVK mevalonate kinase gene DOID:9000408 Porokeratosis 3, Multiple Types ISO RGD:732031 D RGD:7240710 20180130 OMIM 12031198 MVK mevalonate kinase gene DOID:9000408 Porokeratosis 3, Multiple Types ISO RGD:732031 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: POROKERATOSIS 3, MULTIPLE TYPES | ClinVar Annotator: match by term: Porokeratosis, disseminated superficial actinic 1 PMID:10369261|PMID:10369262|PMID:10401001|PMID:10417275|PMID:10896296|PMID:11111075|PMID:11313768|PMID:11313769|PMID:12387810|PMID:12444096|PMID:12563048|PMID:12634869|PMID:1377680|PMID:15149516|PMID:15188372|PMID:15536479|PMID:15804303|PMID:16197847|PMID:16199547|PMID:16255052|PMID:16435210|PMID:16835861|PMID:17105862|PMID:17171314|PMID:18414213|PMID:18839211|PMID:19011501|PMID:19786432|PMID:19877056|PMID:20194276|PMID:21228398|PMID:21399979|PMID:21425920|PMID:21478439|PMID:21548022|PMID:21708801|PMID:22038276|PMID:22246419|PMID:22566169|PMID:22983302|PMID:23006543|PMID:23146290|PMID:23692791|PMID:23834120|PMID:23979089|PMID:23998246|PMID:24033266|PMID:24084495|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24411001|PMID:24470648|PMID:24531851|PMID:24561416|PMID:24656624|PMID:24781643|PMID:24794831|PMID:25677409|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26202976|PMID:26299986|PMID:26386126|PMID:26409462|PMID:26633545|PMID:26935981|PMID:26977311|PMID:26986117|PMID:27012807|PMID:27142780|PMID:27213830|PMID:28095071|PMID:28359055|PMID:28492532|PMID:28501347|PMID:28638818|PMID:28814775|PMID:29047407|PMID:29290516|PMID:31096039|PMID:31278138|PMID:31474985|PMID:32060250|PMID:32822427|PMID:33168400|PMID:33917151|PMID:34145613|PMID:35387795|PMID:8386351|PMID:9334262 12031198 MVK mevalonate kinase gene DOID:9000972 Fever ISO RGD:732031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10369261 12031198 MVK mevalonate kinase gene DOID:9005372 Inflammation ISO RGD:732031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24073415 12031198 MVK mevalonate kinase gene DOID:9006065 Arthralgia ISO RGD:732031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10369261 12031229 MAP1LC3B2 microtubule associated protein 1 light chain 3 beta 2 gene DOID:630 genetic disease ISO RGD:2301276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12031234 PPP6R1 protein phosphatase 6 regulatory subunit 1 gene DOID:0110936 nemaline myopathy 5 ISO RGD:1322857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5 PMID:28492532 12031234 PPP6R1 protein phosphatase 6 regulatory subunit 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1322857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12031234 PPP6R1 protein phosphatase 6 regulatory subunit 1 gene DOID:630 genetic disease ISO RGD:1322857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12031265 NPVF neuropeptide VF precursor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12031265 NPVF neuropeptide VF precursor gene DOID:630 genetic disease ISO RGD:1350677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12031272 EIF3J eukaryotic translation initiation factor 3 subunit J gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1317118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 12031272 EIF3J eukaryotic translation initiation factor 3 subunit J gene DOID:2476 hereditary spastic paraplegia ISO RGD:1317118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic Paraplegia, Recessive 12031272 EIF3J eukaryotic translation initiation factor 3 subunit J gene DOID:2717 Bloom syndrome ISO RGD:1317118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12031272 EIF3J eukaryotic translation initiation factor 3 subunit J gene DOID:630 genetic disease ISO RGD:1317118 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12031272 EIF3J eukaryotic translation initiation factor 3 subunit J gene DOID:9256 colorectal cancer ISO RGD:1317118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12031280 UCP1 uncoupling protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:735821 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:24498895|REF_RGD_ID:10045648 12031280 UCP1 uncoupling protein 1 gene DOID:10763 hypertension ISO RGD:735821 D RGD:9068941 20200609 RGD DNA:polymorphism: :-3826A>G (human) PMID:17635070|REF_RGD_ID:2313626 12031280 UCP1 uncoupling protein 1 gene DOID:11716 prediabetes syndrome ISO RGD:3931 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brown fat PMID:12659879|REF_RGD_ID:2313629 12031280 UCP1 uncoupling protein 1 gene DOID:12858 Huntington's disease ISO RGD:735822 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brown adipose tissue (mouse) PMID:17055784|REF_RGD_ID:10045650 12031280 UCP1 uncoupling protein 1 gene DOID:12858 Huntington's disease treatment ISO RGD:735822 D RGD:9068941 20200609 RGD PMID:20561979|REF_RGD_ID:10045649 12031280 UCP1 uncoupling protein 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:735821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 12031280 UCP1 uncoupling protein 1 gene DOID:6000 congestive heart failure ISO RGD:735821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 12031280 UCP1 uncoupling protein 1 gene DOID:630 genetic disease ISO RGD:735821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12031280 UCP1 uncoupling protein 1 gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:735821 D RGD:9068941 20200609 RGD DNA:SNP: :-3826A>G (human) PMID:15120704|REF_RGD_ID:7247625 12031280 UCP1 uncoupling protein 1 gene DOID:9007692 Insulin Resistance ISO RGD:735821 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:5' utr:-112A>C (rs10011540) (human) PMID:16338218|REF_RGD_ID:1624979 12031280 UCP1 uncoupling protein 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735821 D RGD:9068941 20200609 RGD DNA:polymorphisms:5' utr, exon:-112A>C (rs10011540), p.M229L (human) PMID:11317671|REF_RGD_ID:2313631 12031280 UCP1 uncoupling protein 1 gene DOID:9970 obesity ISO RGD:735821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15592485 12031280 UCP1 uncoupling protein 1 gene DOID:9970 obesity no_association ISO RGD:735821 D RGD:9068941 20200609 RGD DNA:polymorphism: :-3826A>G (human) PMID:8968850|REF_RGD_ID:1624977 12031291 SLC7A6OS solute carrier family 7 member 6 opposite strand gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1602091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12031291 SLC7A6OS solute carrier family 7 member 6 opposite strand gene DOID:630 genetic disease ISO RGD:1602091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12031291 SLC7A6OS solute carrier family 7 member 6 opposite strand gene DOID:9003808 Progressive Myoclonus Epilepsy 12 ISO RGD:1602091 D RGD:7240710 20210303 OMIM 12031291 SLC7A6OS solute carrier family 7 member 6 opposite strand gene DOID:9003808 Progressive Myoclonus Epilepsy 12 ISO RGD:1602091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 12 PMID:25741868|PMID:33085104 12031291 SLC7A6OS solute carrier family 7 member 6 opposite strand gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1602091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized myoclonic seizures PMID:25741868|PMID:33085104 12031301 PAMR1 peptidase domain containing associated with muscle regeneration 1 gene DOID:1059 intellectual disability ISO RGD:1604026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12031301 PAMR1 peptidase domain containing associated with muscle regeneration 1 gene DOID:6000 congestive heart failure ISO RGD:1604026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28751527 12031301 PAMR1 peptidase domain containing associated with muscle regeneration 1 gene DOID:630 genetic disease ISO RGD:1604026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12031301 PAMR1 peptidase domain containing associated with muscle regeneration 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1604026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12031301 PAMR1 peptidase domain containing associated with muscle regeneration 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12031301 PAMR1 peptidase domain containing associated with muscle regeneration 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1604026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28751527 12031318 ESR2 estrogen receptor 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:14500559|REF_RGD_ID:5509042 12031318 ESR2 estrogen receptor 2 gene DOID:0050851 glomerulosclerosis susceptibility ISO RGD:10552 D RGD:9068941 20200609 RGD protein:decreased expression:renal glomerulus (mouse) PMID:12000739|REF_RGD_ID:7364801 12031318 ESR2 estrogen receptor 2 gene DOID:0050902 medulloblastoma ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21351254 12031318 ESR2 estrogen receptor 2 gene DOID:0060180 colitis ISO RGD:10552 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon PMID:21252046|REF_RGD_ID:5508810 12031318 ESR2 estrogen receptor 2 gene DOID:0060180 colitis ISO RGD:2582 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon PMID:21252046|REF_RGD_ID:5508810 12031318 ESR2 estrogen receptor 2 gene DOID:0060224 atrial fibrillation ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 12031318 ESR2 estrogen receptor 2 gene DOID:0080500 ovarian dysgenesis 8 ISO RGD:69213 D RGD:7240710 20190315 OMIM 12031318 ESR2 estrogen receptor 2 gene DOID:0080500 ovarian dysgenesis 8 ISO RGD:69213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 8 PMID:30113650 12031318 ESR2 estrogen receptor 2 gene DOID:0080600 COVID-19 ISO RGD:69213 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12031318 ESR2 estrogen receptor 2 gene DOID:10283 prostate cancer susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps, haplotype:multiple (human) PMID:17932344|REF_RGD_ID:8694101 12031318 ESR2 estrogen receptor 2 gene DOID:10591 pre-eclampsia ISO RGD:69213 D RGD:9068941 20200609 RGD PMID:15894829|REF_RGD_ID:1581016 12031318 ESR2 estrogen receptor 2 gene DOID:10652 Alzheimer's disease ISO RGD:10552 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:15916731|REF_RGD_ID:5508772 12031318 ESR2 estrogen receptor 2 gene DOID:10652 Alzheimer's disease ISO RGD:69213 D RGD:9068941 20200609 RGD protein:decreased expression:choroid plexus PMID:15082146|REF_RGD_ID:5508784 12031318 ESR2 estrogen receptor 2 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNPs:3' utr: (rs4986938), (rs1255953) (human) PMID:17132983|REF_RGD_ID:5508768 12031318 ESR2 estrogen receptor 2 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps:introns:IVS3-1880C>T, IVS4+1231C>T (rs1271573, rs1256043) (human) PMID:15944651|REF_RGD_ID:8693346 12031318 ESR2 estrogen receptor 2 gene DOID:1070 primary open angle glaucoma ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes PMID:18195227|REF_RGD_ID:8553056 12031318 ESR2 estrogen receptor 2 gene DOID:1070 primary open angle glaucoma severity ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps:introns: IVS3 T>C, IVS8 A>G (rs1256031, rs4986938) (human) PMID:20399928|REF_RGD_ID:8694092 12031318 ESR2 estrogen receptor 2 gene DOID:10763 hypertension ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:11799247|REF_RGD_ID:734949 12031318 ESR2 estrogen receptor 2 gene DOID:10763 hypertension ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:23608653|REF_RGD_ID:7364951 12031318 ESR2 estrogen receptor 2 gene DOID:10763 hypertension ISO RGD:69213 D RGD:9068941 20200609 RGD PMID:11185739|PMID:15167447|REF_RGD_ID:1581015|REF_RGD_ID:1581017 12031318 ESR2 estrogen receptor 2 gene DOID:10892 hypospadias susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps, repeat:promoter, 3' utr:rs2987983, rs10483774, g.dupCA (rs1256062) (human) PMID:17579196|REF_RGD_ID:1626506 12031318 ESR2 estrogen receptor 2 gene DOID:11054 urinary bladder cancer ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16700038 12031318 ESR2 estrogen receptor 2 gene DOID:11054 urinary bladder cancer severity ISO RGD:69213 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder urothelium (human) PMID:23612777|REF_RGD_ID:7364758 12031318 ESR2 estrogen receptor 2 gene DOID:11132 prostatic hypertrophy treatment ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:17068134|REF_RGD_ID:8552985 12031318 ESR2 estrogen receptor 2 gene DOID:11476 osteoporosis ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:21421090|REF_RGD_ID:10045841 12031318 ESR2 estrogen receptor 2 gene DOID:11476 osteoporosis ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:3'utr:*39A>G (human) PMID:16530497|REF_RGD_ID:10045825 12031318 ESR2 estrogen receptor 2 gene DOID:11476 osteoporosis susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNP, haplotypes: :-1213T>C (human) PMID:16777502|REF_RGD_ID:1626507 12031318 ESR2 estrogen receptor 2 gene DOID:11476 osteoporosis susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:repeat:3' utr: g.dupCA (human) PMID:22948905|REF_RGD_ID:7364765 12031318 ESR2 estrogen receptor 2 gene DOID:11476 osteoporosis treatment ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:16955786|REF_RGD_ID:8694129 12031318 ESR2 estrogen receptor 2 gene DOID:12361 Graves' disease no_association ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:repeat PMID:11180758|REF_RGD_ID:10045850 12031318 ESR2 estrogen receptor 2 gene DOID:12361 Graves' disease susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS8G>A (rs4986938) (human) PMID:17941906|REF_RGD_ID:8693348 12031318 ESR2 estrogen receptor 2 gene DOID:13949 interstitial cystitis ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:17522255|REF_RGD_ID:7364800 12031318 ESR2 estrogen receptor 2 gene DOID:14330 Parkinson's disease onset ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:polymorphism: :1730A>G(human) PMID:15219649|REF_RGD_ID:5508776 12031318 ESR2 estrogen receptor 2 gene DOID:1596 depressive disorder treatment ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:24128867|REF_RGD_ID:10045672 12031318 ESR2 estrogen receptor 2 gene DOID:1612 breast cancer ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:repeat:3' utr:(CA)10-27 (human) PMID:17904846|REF_RGD_ID:8552977 12031318 ESR2 estrogen receptor 2 gene DOID:1612 breast cancer no_association ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:19321582|REF_RGD_ID:8694110 12031318 ESR2 estrogen receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:repeat:intron:IVS5(CA)9-31 (human) PMID:22792352|REF_RGD_ID:8694096 12031318 ESR2 estrogen receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:silent mutation:exon:g.1176C>G (rs1256054) (human) PMID:20604969|REF_RGD_ID:8694116 12031318 ESR2 estrogen receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-13950C>T (rs2987983) (human) PMID:19429453|REF_RGD_ID:8693347 12031318 ESR2 estrogen receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps, haplotype:exons:g.1082G>A, g.1730G>A, A>G (rs1256049, rs4986938, rs928554) (human) PMID:16261413|REF_RGD_ID:8694090 12031318 ESR2 estrogen receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps, haplotype:multiple (human) PMID:15604249|REF_RGD_ID:8552978 12031318 ESR2 estrogen receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps:5' utr, exon, 3' utr:-12214C>T (rs1271572), A>G (rs928554), A>G (rs4986938) (human) PMID:19739075|REF_RGD_ID:8693382 12031318 ESR2 estrogen receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps:intron, exon:g.14206C>T, g.33390C>G (rs1256054) (human) PMID:14633679|REF_RGD_ID:8694103 12031318 ESR2 estrogen receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD associated with Benign Breast Disease;DNA:snp:3' utr:*5772A>G (rs8018687) (human) PMID:16808847|REF_RGD_ID:8693380 12031318 ESR2 estrogen receptor 2 gene DOID:1612 breast cancer treatment ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:23700476|REF_RGD_ID:7364946 12031318 ESR2 estrogen receptor 2 gene DOID:1679 cystitis ISO RGD:2582 D RGD:9068941 20200609 RGD protein:decreased expression:bladder PMID:16894621|REF_RGD_ID:5508847 12031318 ESR2 estrogen receptor 2 gene DOID:1712 aortic valve stenosis ISO RGD:69213 D RGD:9068941 20200609 RGD PMID:15533858|REF_RGD_ID:1580704 12031318 ESR2 estrogen receptor 2 gene DOID:1909 melanoma severity ISO RGD:69213 D RGD:9068941 20200609 RGD PMID:19153340|REF_RGD_ID:8553064 12031318 ESR2 estrogen receptor 2 gene DOID:1936 atherosclerosis ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:21697723|REF_RGD_ID:5508792 12031318 ESR2 estrogen receptor 2 gene DOID:2030 anxiety disorder treatment ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:24015243|PMID:24631553|REF_RGD_ID:10045678|REF_RGD_ID:7364908 12031318 ESR2 estrogen receptor 2 gene DOID:219 colon cancer ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:19141699|REF_RGD_ID:8694174 12031318 ESR2 estrogen receptor 2 gene DOID:224 transient cerebral ischemia ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:23593292|REF_RGD_ID:7364962 12031318 ESR2 estrogen receptor 2 gene DOID:2316 brain ischemia ISO RGD:2582 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex, ipsilateral side (rat) PMID:10414967|REF_RGD_ID:8694344 12031318 ESR2 estrogen receptor 2 gene DOID:2671 transitional cell carcinoma ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16700038 12031318 ESR2 estrogen receptor 2 gene DOID:2773 contact dermatitis severity ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:18167605|REF_RGD_ID:8694123 12031318 ESR2 estrogen receptor 2 gene DOID:2841 asthma ISO RGD:2582 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (rat) PMID:18375789|REF_RGD_ID:8694127 12031318 ESR2 estrogen receptor 2 gene DOID:289 endometriosis ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:15618247|REF_RGD_ID:5509040 12031318 ESR2 estrogen receptor 2 gene DOID:289 endometriosis ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17625110 12031318 ESR2 estrogen receptor 2 gene DOID:299 adenocarcinoma ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17639508 12031318 ESR2 estrogen receptor 2 gene DOID:305 carcinoma ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15637090 12031318 ESR2 estrogen receptor 2 gene DOID:3069 malignant astrocytoma ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24680642 12031318 ESR2 estrogen receptor 2 gene DOID:3393 coronary artery disease ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20559769 12031318 ESR2 estrogen receptor 2 gene DOID:3393 coronary artery disease ISO RGD:69213 D RGD:9068941 20200609 RGD PMID:16099331|REF_RGD_ID:1581014 12031318 ESR2 estrogen receptor 2 gene DOID:418 systemic scleroderma no_association ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNP:exon: PMID:19032828|REF_RGD_ID:8553058 12031318 ESR2 estrogen receptor 2 gene DOID:437 myasthenia gravis ISO RGD:69213 D RGD:9068941 20200609 RGD PMID:15661863|REF_RGD_ID:5509039 12031318 ESR2 estrogen receptor 2 gene DOID:630 genetic disease ISO RGD:69213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12031318 ESR2 estrogen receptor 2 gene DOID:6432 pulmonary hypertension ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:21700911|REF_RGD_ID:5508791 12031318 ESR2 estrogen receptor 2 gene DOID:657 adenoma ISO RGD:69213 D RGD:9068941 20200609 RGD ratio with Esr1;mRNA:decreased expression:thyroid gland (human) PMID:11721176|REF_RGD_ID:8694118 12031318 ESR2 estrogen receptor 2 gene DOID:7148 rheumatoid arthritis severity ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs1256049(human) PMID:21523342|REF_RGD_ID:5508794 12031318 ESR2 estrogen receptor 2 gene DOID:8283 peritonitis treatment ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:23063870|REF_RGD_ID:8553243 12031318 ESR2 estrogen receptor 2 gene DOID:8398 osteoarthritis ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs1256031) (human) PMID:19884274|REF_RGD_ID:10045830 12031318 ESR2 estrogen receptor 2 gene DOID:8466 retinal degeneration ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:19799898|REF_RGD_ID:8694106 12031318 ESR2 estrogen receptor 2 gene DOID:8577 ulcerative colitis ISO RGD:69213 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon PMID:21252046|REF_RGD_ID:5508810 12031318 ESR2 estrogen receptor 2 gene DOID:8634 prostate carcinoma in situ ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16220300 12031318 ESR2 estrogen receptor 2 gene DOID:8634 prostate carcinoma in situ treatment ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:22025007|REF_RGD_ID:8553211 12031318 ESR2 estrogen receptor 2 gene DOID:8692 myeloid leukemia ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:12740446|REF_RGD_ID:734951 12031318 ESR2 estrogen receptor 2 gene DOID:8719 in situ carcinoma ISO RGD:69213 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:17924141|REF_RGD_ID:2290024 12031318 ESR2 estrogen receptor 2 gene DOID:8778 Crohn's disease disease_progression ISO RGD:69213 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon PMID:21252046|REF_RGD_ID:5508810 12031318 ESR2 estrogen receptor 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:25105782|REF_RGD_ID:10045844 12031318 ESR2 estrogen receptor 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22166976 12031318 ESR2 estrogen receptor 2 gene DOID:9000310 Lung Injury ISO RGD:2582 D RGD:9068941 20200609 RGD associated with Shock, Hemorrhagic PMID:20195535|REF_RGD_ID:4892252 12031318 ESR2 estrogen receptor 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15637090 12031318 ESR2 estrogen receptor 2 gene DOID:9000528 Coronary Disease ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17367797 12031318 ESR2 estrogen receptor 2 gene DOID:9000555 Vulvar Lichen Sclerosus ISO RGD:69213 D RGD:9068941 20200609 RGD PMID:18076706|REF_RGD_ID:2293866 12031318 ESR2 estrogen receptor 2 gene DOID:9001708 Hemorrhagic Shock ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:16859701|REF_RGD_ID:8694176 12031318 ESR2 estrogen receptor 2 gene DOID:9001968 Hot Flashes treatment ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:24823389|REF_RGD_ID:10045671 12031318 ESR2 estrogen receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:19285805|REF_RGD_ID:8553066 12031318 ESR2 estrogen receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:17056036|REF_RGD_ID:5508846 12031318 ESR2 estrogen receptor 2 gene DOID:9002234 Pituitary Neoplasms ISO RGD:69213 D RGD:9068941 20200609 RGD mRNA:decreased expression:pituitary gland (human) PMID:11081187|REF_RGD_ID:8694115 12031318 ESR2 estrogen receptor 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15046698|PMID:16220300|PMID:16921512|PMID:17132221|PMID:17639508|PMID:26443449 12031318 ESR2 estrogen receptor 2 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:69213 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland PMID:17908481|REF_RGD_ID:2290023 12031318 ESR2 estrogen receptor 2 gene DOID:9002331 Knee Osteoarthritis ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:repeat:intron:c.1092+3607(CA)13-27 (human) PMID:16098017|REF_RGD_ID:10043199 12031318 ESR2 estrogen receptor 2 gene DOID:9002457 Experimental Arthritis ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:16269464|REF_RGD_ID:5508854 12031318 ESR2 estrogen receptor 2 gene DOID:9002473 Blast Crisis ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:12740446|REF_RGD_ID:734951 12031318 ESR2 estrogen receptor 2 gene DOID:9002720 Splenomegaly ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:12740446|REF_RGD_ID:734951 12031318 ESR2 estrogen receptor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:21182085|PMID:21565615|REF_RGD_ID:5508732|REF_RGD_ID:5508735 12031318 ESR2 estrogen receptor 2 gene DOID:9002775 Cognitive Dysfunction susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps:introns, exon:C>T (rs1256030), A>C (rs1256065), C>G (rs1255998) (human) PMID:17889406|REF_RGD_ID:8694087 12031318 ESR2 estrogen receptor 2 gene DOID:9003919 Urination Disorders treatment ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:24259512|REF_RGD_ID:10045674 12031318 ESR2 estrogen receptor 2 gene DOID:9004118 Experimental Melanoma severity ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:20354658|REF_RGD_ID:8694122 12031318 ESR2 estrogen receptor 2 gene DOID:9004272 Varicose Ulcer ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon PMID:18070128|REF_RGD_ID:8553061 12031318 ESR2 estrogen receptor 2 gene DOID:9004272 Varicose Ulcer ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:(CA) dinucleotide repeat (human) PMID:16153823|REF_RGD_ID:1626508 12031318 ESR2 estrogen receptor 2 gene DOID:9004484 Sepsis ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:16755255|REF_RGD_ID:5508850 12031318 ESR2 estrogen receptor 2 gene DOID:9004538 Hearing Loss ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:18317592|REF_RGD_ID:8553063 12031318 ESR2 estrogen receptor 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:16627800|REF_RGD_ID:1581018 12031318 ESR2 estrogen receptor 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:69213 D RGD:9068941 20200609 RGD PMID:16280269|REF_RGD_ID:1581013 12031318 ESR2 estrogen receptor 2 gene DOID:9004764 Lithiasis ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21670126 12031318 ESR2 estrogen receptor 2 gene DOID:9004914 Postmenopausal Osteoporosis susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:3'utr:*39A>G (human) PMID:22335445|REF_RGD_ID:10045849 12031318 ESR2 estrogen receptor 2 gene DOID:9004914 Postmenopausal Osteoporosis susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNP: :-1213T>C (human) PMID:16777502|REF_RGD_ID:1626507 12031318 ESR2 estrogen receptor 2 gene DOID:9004914 Postmenopausal Osteoporosis susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:repeat:intron:IVS5-3919(CA)18-26 (human) PMID:17945165|REF_RGD_ID:10045847 12031318 ESR2 estrogen receptor 2 gene DOID:9005040 Hand Osteoarthritis no_association ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNPs:introns: (rs1256034, rs1256059, rs944460) (human) PMID:19884274|REF_RGD_ID:10045830 12031318 ESR2 estrogen receptor 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2582 D RGD:9068941 20200609 RGD protein:increased expression:epithelial cell, nucleus PMID:15637090|REF_RGD_ID:8552983 12031318 ESR2 estrogen receptor 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15637090 12031318 ESR2 estrogen receptor 2 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:24078029|REF_RGD_ID:7364911 12031318 ESR2 estrogen receptor 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17133264 12031318 ESR2 estrogen receptor 2 gene DOID:9007096 Stroke treatment ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:24406718|REF_RGD_ID:10045677 12031318 ESR2 estrogen receptor 2 gene DOID:9007181 Osteoporotic Fractures ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:25085540|REF_RGD_ID:10045675 12031318 ESR2 estrogen receptor 2 gene DOID:9007181 Osteoporotic Fractures ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNP: :-1213T>C (human) PMID:16777502|REF_RGD_ID:1626507 12031318 ESR2 estrogen receptor 2 gene DOID:9007181 Osteoporotic Fractures ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:intron, 3' utr:IVS2+520C>T, g.*39G>A (rs1256031, rs4986938) (human) PMID:16939403|REF_RGD_ID:10045848 12031318 ESR2 estrogen receptor 2 gene DOID:9007355 Hashimoto Disease no_association ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:repeat PMID:11180758|REF_RGD_ID:10045850 12031318 ESR2 estrogen receptor 2 gene DOID:9007456 Female Infertility ISO RGD:2582 D RGD:9068941 20200827 RGD PMID:28520870|REF_RGD_ID:38548924 12031318 ESR2 estrogen receptor 2 gene DOID:9007456 Female Infertility ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23710174 12031318 ESR2 estrogen receptor 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25437045 12031318 ESR2 estrogen receptor 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:18656630|REF_RGD_ID:5508820 12031318 ESR2 estrogen receptor 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15954165 12031318 ESR2 estrogen receptor 2 gene DOID:9008681 Deafness ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:19293293|REF_RGD_ID:8553051 12031318 ESR2 estrogen receptor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17132221|PMID:19434490|PMID:19548127 12031318 ESR2 estrogen receptor 2 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:69213 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:breast PMID:18234277|REF_RGD_ID:2290017 12031318 ESR2 estrogen receptor 2 gene DOID:9008939 Breast Neoplasms treatment ISO RGD:69213 D RGD:9068941 20200609 RGD PMID:24047421|REF_RGD_ID:8552984 12031318 ESR2 estrogen receptor 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:17336162|REF_RGD_ID:5508844 12031318 ESR2 estrogen receptor 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:69213 D RGD:9068941 20200609 RGD mRNA:decreased expression:leukocyte,mononuclear PMID:17874259|REF_RGD_ID:5508843 12031318 ESR2 estrogen receptor 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:69213 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:20627037|REF_RGD_ID:5508813 12031318 ESR2 estrogen receptor 2 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNP: :rs4986938 (human) PMID:20961965|REF_RGD_ID:5508738 12031318 ESR2 estrogen receptor 2 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:repeats:intron: PMID:20305046|REF_RGD_ID:5508817 12031318 ESR2 estrogen receptor 2 gene DOID:9256 colorectal cancer susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:repeat:3' utr:g.dupCA (human) PMID:21884200|REF_RGD_ID:7364791 12031318 ESR2 estrogen receptor 2 gene DOID:987 alopecia no_association ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:22509838|REF_RGD_ID:8694094 12031318 ESR2 estrogen receptor 2 gene DOID:987 alopecia susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps:enhancer, intron g.-20301C>T, g.34493G>A, g.16688A>G (rs2022748, rs10137185, rs17101774) (human) PMID:22014031|REF_RGD_ID:8694095 12031318 ESR2 estrogen receptor 2 gene DOID:9970 obesity ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:22230815|REF_RGD_ID:8553199 12031356 SHISA3 shisa family member 3 gene DOID:630 genetic disease ISO RGD:2292184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12031356 SHISA3 shisa family member 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2292184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12031362 NNT nicotinamide nucleotide transhydrogenase gene DOID:0080621 glucocorticoid deficiency 1 ISO RGD:1351355 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22634753 12031362 NNT nicotinamide nucleotide transhydrogenase gene DOID:630 genetic disease ISO RGD:1351355 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12031362 NNT nicotinamide nucleotide transhydrogenase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12031362 NNT nicotinamide nucleotide transhydrogenase gene DOID:9005904 Glucocorticoid Deficiency 4 ISO RGD:1351355 D RGD:7240710 20180130 OMIM 12031362 NNT nicotinamide nucleotide transhydrogenase gene DOID:9005904 Glucocorticoid Deficiency 4 ISO RGD:1351355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucocorticoid deficiency 4 PMID:22634753|PMID:23474776|PMID:25741868|PMID:26070314|PMID:26548497|PMID:27129361|PMID:28492532|PMID:33223529 12031362 NNT nicotinamide nucleotide transhydrogenase gene DOID:9970 obesity ISO RGD:1587346 D RGD:9068941 20200609 RGD protein:decreased expression:gastrocnemius, soleus PMID:25761734|REF_RGD_ID:13513980 12031400 WBP1 WW domain binding protein 1 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1312705 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12031400 WBP1 WW domain binding protein 1 gene DOID:543 dystonia ISO RGD:1312705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12031400 WBP1 WW domain binding protein 1 gene DOID:630 genetic disease ISO RGD:1312705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12031400 WBP1 WW domain binding protein 1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1312705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12031429 YWHAQ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta gene DOID:630 genetic disease ISO RGD:734393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12031429 YWHAQ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta gene DOID:8398 osteoarthritis ISO RGD:734393 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12031438 ELK1 ETS transcription factor ELK1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12031438 ELK1 ETS transcription factor ELK1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1349633 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 12031438 ELK1 ETS transcription factor ELK1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1349633 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12031438 ELK1 ETS transcription factor ELK1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1349633 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12031438 ELK1 ETS transcription factor ELK1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1349633 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12031438 ELK1 ETS transcription factor ELK1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1349633 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 12031438 ELK1 ETS transcription factor ELK1 gene DOID:10652 Alzheimer's disease ISO RGD:1349633 D RGD:9068941 20200609 RGD PMID:20126313|REF_RGD_ID:7488914 12031438 ELK1 ETS transcription factor ELK1 gene DOID:12217 Lewy body dementia ISO RGD:1349633 D RGD:9068941 20200609 RGD PMID:20126313|REF_RGD_ID:7488914 12031438 ELK1 ETS transcription factor ELK1 gene DOID:12849 autistic disorder ISO RGD:1349633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12031438 ELK1 ETS transcription factor ELK1 gene DOID:12858 Huntington's disease ISO RGD:1349633 D RGD:9068941 20200609 RGD PMID:20126313|REF_RGD_ID:7488914 12031438 ELK1 ETS transcription factor ELK1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:1598663 D RGD:9068941 20200609 RGD PMID:17091294|REF_RGD_ID:7488902 12031438 ELK1 ETS transcription factor ELK1 gene DOID:5419 schizophrenia ISO RGD:1349633 D RGD:9068941 20200609 RGD protein:increased expression:cerebellar vermis PMID:10891039|REF_RGD_ID:10047412 12031438 ELK1 ETS transcription factor ELK1 gene DOID:630 genetic disease ISO RGD:1349633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12031438 ELK1 ETS transcription factor ELK1 gene DOID:9000998 Brain Injuries ISO RGD:1598663 D RGD:9068941 20200609 RGD PMID:15362724|REF_RGD_ID:7488910 12031438 ELK1 ETS transcription factor ELK1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1349633 D RGD:9068941 20200609 RGD mRNA:decreased expression:placenta PMID:20008130|REF_RGD_ID:7488901 12031452 ITGB1 integrin subunit beta 1 gene DOID:0050700 cardiomyopathy ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18340010 12031452 ITGB1 integrin subunit beta 1 gene DOID:0080074 neural tube defect ISO RGD:736631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:25741868 12031452 ITGB1 integrin subunit beta 1 gene DOID:0081292 traumatic brain injury ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25668593 12031452 ITGB1 integrin subunit beta 1 gene DOID:10485 esophageal atresia ISO RGD:736631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 12031452 ITGB1 integrin subunit beta 1 gene DOID:10487 Hirschsprung's disease ISO RGD:733764 D RGD:9068941 20220825 MouseDO OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 12031452 ITGB1 integrin subunit beta 1 gene DOID:10908 hydrocephalus ISO RGD:2927 D RGD:9068941 20200609 RGD PMID:19726708|REF_RGD_ID:2325325 12031452 ITGB1 integrin subunit beta 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11884376 12031452 ITGB1 integrin subunit beta 1 gene DOID:1749 squamous cell carcinoma ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 12031452 ITGB1 integrin subunit beta 1 gene DOID:182 calcinosis ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18340010 12031452 ITGB1 integrin subunit beta 1 gene DOID:289 endometriosis ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12031452 ITGB1 integrin subunit beta 1 gene DOID:2921 glomerulonephritis ISO RGD:2927 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus (rat) PMID:19662603|REF_RGD_ID:2325666 12031452 ITGB1 integrin subunit beta 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21478906 12031452 ITGB1 integrin subunit beta 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:736631 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:28537888|REF_RGD_ID:13792830 12031452 ITGB1 integrin subunit beta 1 gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:736631 D RGD:9068941 20200609 RGD PMID:21063403|REF_RGD_ID:13792831 12031452 ITGB1 integrin subunit beta 1 gene DOID:5409 lung small cell carcinoma treatment ISO RGD:736631 D RGD:9068941 20200609 RGD PMID:12168902|REF_RGD_ID:13792832 12031452 ITGB1 integrin subunit beta 1 gene DOID:5844 myocardial infarction treatment ISO RGD:2927 D RGD:9068941 20200609 RGD PMID:28367125|REF_RGD_ID:13602094 12031452 ITGB1 integrin subunit beta 1 gene DOID:6000 congestive heart failure ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11884376 12031452 ITGB1 integrin subunit beta 1 gene DOID:630 genetic disease ISO RGD:736631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12031452 ITGB1 integrin subunit beta 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:736631 D RGD:9068941 20200609 RGD associated with non-small cell lung carcinoma, PMID:28537888|REF_RGD_ID:13792830 12031452 ITGB1 integrin subunit beta 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23562787 12031452 ITGB1 integrin subunit beta 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12031452 ITGB1 integrin subunit beta 1 gene DOID:9002211 Hyperalgesia ISO RGD:2927 D RGD:9068941 20200609 RGD PMID:14984413|REF_RGD_ID:2302389 12031452 ITGB1 integrin subunit beta 1 gene DOID:9002211 Hyperalgesia ISO RGD:2927 D RGD:9068941 20200609 RGD knock-down using a specific monoclonal antibody or RNAi PMID:15836982|REF_RGD_ID:2302139 12031452 ITGB1 integrin subunit beta 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224397 12031452 ITGB1 integrin subunit beta 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2927 D RGD:9068941 20200609 RGD protein:decreased expression:epidermal stem cell (rat) PMID:20187441|REF_RGD_ID:2325322 12031452 ITGB1 integrin subunit beta 1 gene DOID:9007402 Gliosis ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12851778 12031472 FH fumarate hydratase gene DOID:0080600 COVID-19 ISO RGD:735599 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12031472 FH fumarate hydratase gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:735599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified PMID:25741868|PMID:28492532 12031472 FH fumarate hydratase gene DOID:0111261 fumarase deficiency ISO RGD:735599 D RGD:7240710 20180130 OMIM 12031472 FH fumarate hydratase gene DOID:0111261 fumarase deficiency ISO RGD:735599 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Fumarase deficiency PMID:10896297|PMID:11865300|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16151915|PMID:16199547|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16876016|PMID:17182618|PMID:17270241|PMID:17392716|PMID:17576681|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18503824|PMID:19151755|PMID:19183174|PMID:19339519|PMID:19939761|PMID:19967458|PMID:20301679|PMID:20549362|PMID:20618355|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21904061|PMID:21929734|PMID:22069215|PMID:22127509|PMID:22382802|PMID:22595425|PMID:22703879|PMID:2314594|PMID:23211287|PMID:23612258|PMID:24182348|PMID:24334767|PMID:24346898|PMID:24441663|PMID:24728327|PMID:25004247|PMID:25637381|PMID:25741868|PMID:25852058|PMID:25923021|PMID:25985877|PMID:26113603|PMID:26173633|PMID:26467025|PMID:26580448|PMID:26700204|PMID:26900816|PMID:27037871|PMID:27541980|PMID:28196407|PMID:28300276|PMID:28371217|PMID:28400895|PMID:28492532|PMID:28592321|PMID:28747166|PMID:28825054|PMID:28873162|PMID:29052812|PMID:29423582|PMID:29456767|PMID:29641532|PMID:29893455|PMID:29909963|PMID:30050099|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31444830|PMID:31636096|PMID:31746132|PMID:31794323|PMID:31831373|PMID:32008151|PMID:32012241|PMID:32612247|PMID:32782288|PMID:32808982|PMID:32999401|PMID:33052056|PMID:33125697|PMID:33166576|PMID:33362715|PMID:33397043|PMID:33439686|PMID:33789101|PMID:33858029|PMID:34337822|PMID:34643235|PMID:36773955|PMID:8200987|PMID:9300800|PMID:9536098|PMID:9635293 12031472 FH fumarate hydratase gene DOID:10907 microcephaly ISO RGD:735599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:30548481 12031472 FH fumarate hydratase gene DOID:13223 uterine fibroid ISO RGD:735599 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Uterine leiomyoma PMID:11865300|PMID:21398687|PMID:25741868|PMID:28492532 12031472 FH fumarate hydratase gene DOID:1540 parathyroid carcinoma ISO RGD:735599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12031472 FH fumarate hydratase gene DOID:1612 breast cancer ISO RGD:735599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast 12031472 FH fumarate hydratase gene DOID:2394 ovarian cancer ISO RGD:735599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:26467025|PMID:28492532|PMID:30548481|PMID:33397043 12031472 FH fumarate hydratase gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:735599 D RGD:9068941 20210820 RGD DNA:SNP: (rs1414493) (human) PMID:25576295|REF_RGD_ID:150340558 12031472 FH fumarate hydratase gene DOID:630 genetic disease ISO RGD:735599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11865300|PMID:21398687|PMID:28492532|PMID:33063682 12031472 FH fumarate hydratase gene DOID:684 hepatocellular carcinoma ISO RGD:735599 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:10896297|PMID:15221078|PMID:16876016|PMID:17182618|PMID:18313410|PMID:19151755|PMID:20301679|PMID:21445611|PMID:25637381|PMID:25741868|PMID:28492532|PMID:28747166 12031472 FH fumarate hydratase gene DOID:687 hepatoblastoma ISO RGD:735599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:28492532 12031472 FH fumarate hydratase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12031472 FH fumarate hydratase gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:735599 D RGD:7240710 20180130 OMIM 12031472 FH fumarate hydratase gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:735599 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:10896297|PMID:11865300|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16029320|PMID:16151915|PMID:16199547|PMID:16237213|PMID:16309500|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16757530|PMID:16876016|PMID:16881969|PMID:17182618|PMID:17270241|PMID:17392716|PMID:17908262|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18414213|PMID:19151755|PMID:19183174|PMID:19939761|PMID:19967458|PMID:20301679|PMID:20549362|PMID:20618355|PMID:21051878|PMID:21304509|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21929734|PMID:22069215|PMID:22127509|PMID:22243733|PMID:22473397|PMID:22528940|PMID:22561013|PMID:22565324|PMID:22595425|PMID:22703879|PMID:22764886|PMID:22982371|PMID:2314594|PMID:23211287|PMID:23612258|PMID:24182348|PMID:24346898|PMID:24419633|PMID:24441663|PMID:24625422|PMID:24684806|PMID:24728327|PMID:25292446|PMID:25477250|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25750977|PMID:25852058|PMID:25923021|PMID:25985877|PMID:26023681|PMID:26113603|PMID:26173633|PMID:26296701|PMID:26323704|PMID:26457356|PMID:26467025|PMID:26556299|PMID:26900816|PMID:26945337|PMID:27037871|PMID:27541980|PMID:28300276|PMID:28400895|PMID:28492532|PMID:28592321|PMID:28747166|PMID:28825054|PMID:28873162|PMID:29052812|PMID:29423582|PMID:29456767|PMID:29625052|PMID:29641532|PMID:29893455|PMID:29909963|PMID:29978187|PMID:30171332|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31299266|PMID:31444830|PMID:31524643|PMID:31636096|PMID:31746132|PMID:31794323|PMID:31831373|PMID:32012241|PMID:32154112|PMID:32782288|PMID:32999401|PMID:33166576|PMID:33439686|PMID:33442023|PMID:33789101|PMID:33858029|PMID:34337822|PMID:34604083|PMID:34643235|PMID:34994643|PMID:35216667|PMID:35806449|PMID:35874919|PMID:9300800|PMID:9635293 12031472 FH fumarate hydratase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735599 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10896297|PMID:11585823|PMID:11865300|PMID:12183404|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16029320|PMID:16151915|PMID:16155190|PMID:16199547|PMID:16237213|PMID:16309500|PMID:16403393|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16757530|PMID:16876016|PMID:17182618|PMID:17392716|PMID:17576681|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18514489|PMID:19151755|PMID:19339519|PMID:19939761|PMID:20231875|PMID:20549362|PMID:20618355|PMID:21051878|PMID:21304509|PMID:21340633|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21904061|PMID:21929734|PMID:22069215|PMID:22086304|PMID:22127509|PMID:22243733|PMID:22528940|PMID:22561013|PMID:22565324|PMID:22595425|PMID:22703879|PMID:22764886|PMID:22982371|PMID:2314594|PMID:23203078|PMID:23211287|PMID:23320739|PMID:23443020|PMID:23612258|PMID:24182348|PMID:24334767|PMID:24419633|PMID:24441663|PMID:24526232|PMID:24625422|PMID:24684806|PMID:24728327|PMID:25004247|PMID:25292446|PMID:25525159|PMID:25613812|PMID:25637381|PMID:25741868|PMID:25750977|PMID:25852058|PMID:25913776|PMID:25923021|PMID:25985877|PMID:26023681|PMID:26173633|PMID:26323704|PMID:26457356|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26700204|PMID:26900816|PMID:26945337|PMID:26983443|PMID:27037871|PMID:27187686|PMID:27454940|PMID:27541980|PMID:28266706|PMID:28300276|PMID:28492532|PMID:28747166|PMID:28825054|PMID:28873162|PMID:29423582|PMID:29456767|PMID:29909963|PMID:30050099|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31444830|PMID:31524643|PMID:31564060|PMID:31746132|PMID:31831373|PMID:32463173|PMID:32612247|PMID:33125697|PMID:33167498|PMID:33362715|PMID:34604083|PMID:8007976|PMID:9300800|PMID:9536098|PMID:9635293|PMID:9665847 12031472 FH fumarate hydratase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735599 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10896297|PMID:11585823|PMID:11865300|PMID:12183404|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16029320|PMID:16151915|PMID:16155190|PMID:16199547|PMID:16237213|PMID:16309500|PMID:16403393|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16757530|PMID:16876016|PMID:17182618|PMID:17392716|PMID:17576681|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18514489|PMID:19151755|PMID:19339519|PMID:19939761|PMID:20231875|PMID:20301679|PMID:20549362|PMID:20618355|PMID:21051878|PMID:21304509|PMID:21340633|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21904061|PMID:21929734|PMID:22069215|PMID:22086304|PMID:22127509|PMID:22243733|PMID:22528940|PMID:22561013|PMID:22565324|PMID:22595425|PMID:22703879|PMID:22764886|PMID:22982371|PMID:2314594|PMID:23203078|PMID:23211287|PMID:23320739|PMID:23443020|PMID:23612258|PMID:24182348|PMID:24334767|PMID:24419633|PMID:24441663|PMID:24526232|PMID:24625422|PMID:24684806|PMID:24728327|PMID:25004247|PMID:25292446|PMID:25525159|PMID:25613812|PMID:25637381|PMID:25741868|PMID:25750977|PMID:25852058|PMID:25913776|PMID:25923021|PMID:25985877|PMID:26023681|PMID:26173633|PMID:26323704|PMID:26457356|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26700204|PMID:26900816|PMID:26945337|PMID:26983443|PMID:27037871|PMID:27187686|PMID:27454940|PMID:27541980|PMID:28266706|PMID:28300276|PMID:28492532|PMID:28747166|PMID:28825054|PMID:28873162|PMID:29423582|PMID:29456767|PMID:29909963|PMID:30050099|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31444830|PMID:31524643|PMID:31564060|PMID:31746132|PMID:31831373|PMID:32463173|PMID:32612247|PMID:33125697|PMID:33167498|PMID:33362715|PMID:34604083|PMID:34994643|PMID:8007976|PMID:8200987|PMID:9300800|PMID:9536098|PMID:9635293|PMID:9665847 12031472 FH fumarate hydratase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735599 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10896297|PMID:11585823|PMID:11865300|PMID:12183404|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16029320|PMID:16151915|PMID:16155190|PMID:16199547|PMID:16237213|PMID:16309500|PMID:16403393|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16757530|PMID:16876016|PMID:17182618|PMID:17392716|PMID:17576681|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18514489|PMID:19151755|PMID:19339519|PMID:19939761|PMID:20231875|PMID:20301679|PMID:20549362|PMID:20618355|PMID:21051878|PMID:21304509|PMID:21340633|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21904061|PMID:21929734|PMID:22069215|PMID:22086304|PMID:22127509|PMID:22243733|PMID:22528940|PMID:22561013|PMID:22565324|PMID:22595425|PMID:22703879|PMID:22764886|PMID:22982371|PMID:2314594|PMID:23203078|PMID:23211287|PMID:23320739|PMID:23443020|PMID:23612258|PMID:24182348|PMID:24334767|PMID:24419633|PMID:24441663|PMID:24526232|PMID:24625422|PMID:24684806|PMID:24728327|PMID:25004247|PMID:25292446|PMID:25525159|PMID:25613812|PMID:25637381|PMID:25741868|PMID:25750977|PMID:25852058|PMID:25913776|PMID:25923021|PMID:25985877|PMID:26023681|PMID:26173633|PMID:26323704|PMID:26457356|PMID:26467025|PMID:26493120|PMID:26556299|PMID:26580448|PMID:26700204|PMID:26900816|PMID:26945337|PMID:26983443|PMID:27037871|PMID:27187686|PMID:27454940|PMID:27541980|PMID:28266706|PMID:28300276|PMID:28492532|PMID:28747166|PMID:28825054|PMID:28873162|PMID:29423582|PMID:29456767|PMID:29909963|PMID:30050099|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31444830|PMID:31524643|PMID:31564060|PMID:31746132|PMID:31831373|PMID:32463173|PMID:32612247|PMID:33125697|PMID:33167498|PMID:33362715|PMID:34604083|PMID:34994643|PMID:8007976|PMID:8200987|PMID:9300800|PMID:9536098|PMID:9635293|PMID:9665847 12031472 FH fumarate hydratase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10896297|PMID:11865300|PMID:12183404|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16029320|PMID:16151915|PMID:16155190|PMID:16199547|PMID:16206287|PMID:16237213|PMID:16309500|PMID:16403393|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16757530|PMID:16876016|PMID:17182618|PMID:17392716|PMID:17576681|PMID:17768033|PMID:17908262|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18514489|PMID:19151755|PMID:19183174|PMID:19339519|PMID:19470762|PMID:19939761|PMID:19967458|PMID:20056206|PMID:20231875|PMID:20301679|PMID:20549362|PMID:20618355|PMID:21051878|PMID:21304509|PMID:21340633|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21904061|PMID:21929734|PMID:22069215|PMID:22086304|PMID:22127509|PMID:22243733|PMID:22473397|PMID:22528940|PMID:22561013|PMID:22565324|PMID:22595425|PMID:22703879|PMID:22764886|PMID:22982371|PMID:2314594|PMID:23203078|PMID:23211287|PMID:23320739|PMID:23443020|PMID:23612258|PMID:23707781|PMID:24182348|PMID:24334767|PMID:24346898|PMID:24419633|PMID:24441663|PMID:24526232|PMID:24625422|PMID:24684806|PMID:24728327|PMID:25004247|PMID:25292446|PMID:25477250|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25750977|PMID:25852058|PMID:25913776|PMID:25923021|PMID:25985877|PMID:26023681|PMID:26113603|PMID:26173633|PMID:26323704|PMID:26457356|PMID:26467025|PMID:26493120|PMID:26556299|PMID:26574848|PMID:26580448|PMID:26700204|PMID:26900816|PMID:26945337|PMID:26983443|PMID:27037871|PMID:27187686|PMID:27454940|PMID:27541980|PMID:28266706|PMID:28300276|PMID:28371217|PMID:28400895|PMID:28492532|PMID:28747166|PMID:28825054|PMID:28873162|PMID:29423582|PMID:29456767|PMID:29625052|PMID:29641532|PMID:29655270|PMID:29893455|PMID:29909963|PMID:29978187|PMID:30050099|PMID:30171332|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31299266|PMID:31444830|PMID:31524643|PMID:31564060|PMID:31636096|PMID:31746132|PMID:31794323|PMID:31831373|PMID:32008151|PMID:32012241|PMID:32154112|PMID:32376712|PMID:32463173|PMID:32612247|PMID:32782288|PMID:32808982|PMID:32999401|PMID:33063682|PMID:33125697|PMID:33166576|PMID:33167498|PMID:33362715|PMID:33397043|PMID:33439686|PMID:33461594|PMID:33789101|PMID:33858029|PMID:34337822|PMID:34604083|PMID:34994643|PMID:35216667|PMID:35874919|PMID:8200987|PMID:9300800|PMID:9536098|PMID:9635293|PMID:9665847 12031472 FH fumarate hydratase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735599 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10896297|PMID:11865300|PMID:12183404|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16029320|PMID:16151915|PMID:16155190|PMID:16199547|PMID:16206287|PMID:16237213|PMID:16309500|PMID:16403393|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16757530|PMID:16876016|PMID:17182618|PMID:17392716|PMID:17576681|PMID:17768033|PMID:17908262|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18514489|PMID:19151755|PMID:19183174|PMID:19339519|PMID:19470762|PMID:19939761|PMID:19967458|PMID:20056206|PMID:20231875|PMID:20301679|PMID:20549362|PMID:20618355|PMID:21051878|PMID:21304509|PMID:21340633|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21904061|PMID:21929734|PMID:22069215|PMID:22086304|PMID:22127509|PMID:22243733|PMID:22473397|PMID:22528940|PMID:22561013|PMID:22565324|PMID:22595425|PMID:22703879|PMID:22764886|PMID:22982371|PMID:2314594|PMID:23203078|PMID:23211287|PMID:23320739|PMID:23443020|PMID:23612258|PMID:23707781|PMID:24182348|PMID:24334767|PMID:24346898|PMID:24419633|PMID:24441663|PMID:24526232|PMID:24625422|PMID:24684806|PMID:24728327|PMID:25004247|PMID:25292446|PMID:25477250|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25750977|PMID:25852058|PMID:25913776|PMID:25923021|PMID:25985877|PMID:26023681|PMID:26113603|PMID:26173633|PMID:26323704|PMID:26457356|PMID:26467025|PMID:26493120|PMID:26556299|PMID:26574848|PMID:26580448|PMID:26700204|PMID:26900816|PMID:26945337|PMID:26983443|PMID:27037871|PMID:27187686|PMID:27454940|PMID:27541980|PMID:28266706|PMID:28300276|PMID:28371217|PMID:28400895|PMID:28492532|PMID:28747166|PMID:28825054|PMID:28873162|PMID:29052812|PMID:29423582|PMID:29456767|PMID:29625052|PMID:29641532|PMID:29655270|PMID:29893455|PMID:29909963|PMID:29978187|PMID:30050099|PMID:30171332|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31299266|PMID:31444830|PMID:31524643|PMID:31564060|PMID:31636096|PMID:31746132|PMID:31794323|PMID:31831373|PMID:32008151|PMID:32012241|PMID:32154112|PMID:32376712|PMID:32463173|PMID:32612247|PMID:32782288|PMID:32808982|PMID:32999401|PMID:33063682|PMID:33125697|PMID:33166576|PMID:33167498|PMID:33362715|PMID:33397043|PMID:33439686|PMID:33461594|PMID:33606809|PMID:33789101|PMID:33858029|PMID:34156580|PMID:34337822|PMID:34604083|PMID:34643235|PMID:34994643|PMID:35216667|PMID:35874919|PMID:36773955|PMID:8200987|PMID:9300800|PMID:9536098|PMID:9635293|PMID:9665847 12031472 FH fumarate hydratase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12031486 PEX7 peroxisomal biogenesis factor 7 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1318278 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12031486 PEX7 peroxisomal biogenesis factor 7 gene DOID:0110851 rhizomelic chondrodysplasia punctata type 1 ISO RGD:1318278 D RGD:7240710 20180130 OMIM 12031486 PEX7 peroxisomal biogenesis factor 7 gene DOID:0110851 rhizomelic chondrodysplasia punctata type 1 ISO RGD:1318278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 1 PMID:10083738|PMID:10527683|PMID:10673331|PMID:11756410|PMID:11781871|PMID:12054588|PMID:12325024|PMID:12522768|PMID:14974078|PMID:16199547|PMID:17325280|PMID:17576681|PMID:1773541|PMID:20145307|PMID:20301447|PMID:21465523|PMID:21990100|PMID:22008564|PMID:22057399|PMID:23352163|PMID:23572185|PMID:24172221|PMID:25741868|PMID:25800479|PMID:25851898|PMID:26408048|PMID:26467025|PMID:26587300|PMID:28492532|PMID:8295403|PMID:9090381|PMID:9090382|PMID:9090383|PMID:9472033|PMID:9536098|PMID:9686382 12031486 PEX7 peroxisomal biogenesis factor 7 gene DOID:0111955 immunodeficiency 27A ISO RGD:1318278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 12031486 PEX7 peroxisomal biogenesis factor 7 gene DOID:10582 Refsum disease ISO RGD:1318278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phytanic acid storage disease PMID:10083738|PMID:10673331|PMID:11756410|PMID:11781871|PMID:12325024|PMID:12522768|PMID:14974078|PMID:1773541|PMID:20301447|PMID:21465523|PMID:21990100|PMID:22008564|PMID:23572185|PMID:25741868|PMID:25800479|PMID:25851898|PMID:26467025|PMID:26587300|PMID:28492532|PMID:9090381|PMID:9090382|PMID:9090383|PMID:9686382 12031486 PEX7 peroxisomal biogenesis factor 7 gene DOID:10582 Refsum disease ISO RGD:1318278 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Phytanic acid storage disease PMID:10083738|PMID:10673331|PMID:11756410|PMID:11781871|PMID:12325024|PMID:12522768|PMID:14974078|PMID:16199547|PMID:17576681|PMID:1773541|PMID:20301447|PMID:21465523|PMID:21990100|PMID:22008564|PMID:23572185|PMID:25741868|PMID:25800479|PMID:25851898|PMID:26408048|PMID:26467025|PMID:26587300|PMID:28492532|PMID:9090381|PMID:9090382|PMID:9090383|PMID:9536098|PMID:9686382 12031486 PEX7 peroxisomal biogenesis factor 7 gene DOID:1059 intellectual disability ISO RGD:1318278 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12031486 PEX7 peroxisomal biogenesis factor 7 gene DOID:2580 rhizomelic chondrodysplasia punctata ISO RGD:1318278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chondrodysplasia punctata rhizomelic form | ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata PMID:10083738|PMID:10527683|PMID:10673331|PMID:11756410|PMID:11781871|PMID:12054588|PMID:12325024|PMID:12522768|PMID:14974078|PMID:17325280|PMID:17576681|PMID:1773541|PMID:20145307|PMID:20301447|PMID:21465523|PMID:21990100|PMID:22008564|PMID:23572185|PMID:24172221|PMID:25741868|PMID:25800479|PMID:25851898|PMID:26408048|PMID:26467025|PMID:26587300|PMID:28492532|PMID:8295403|PMID:9090381|PMID:9090382|PMID:9090383|PMID:9472033|PMID:9536098|PMID:9686382 12031486 PEX7 peroxisomal biogenesis factor 7 gene DOID:630 genetic disease ISO RGD:1318278 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10527683|PMID:11756410|PMID:11781871|PMID:12054588|PMID:12325024|PMID:12522768|PMID:17576681|PMID:20145307|PMID:20301447|PMID:23572185|PMID:24172221|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9090381|PMID:9472033|PMID:9536098 12031486 PEX7 peroxisomal biogenesis factor 7 gene DOID:65 connective tissue disease ISO RGD:1318278 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:12325024|PMID:12522768|PMID:20301447|PMID:25741868|PMID:26467025|PMID:28492532 12031486 PEX7 peroxisomal biogenesis factor 7 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1318278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection PMID:26642243|PMID:28492532|PMID:29572183|PMID:8960473|PMID:9806040 12031486 PEX7 peroxisomal biogenesis factor 7 gene DOID:9006365 Adult Refsum Disease, 2 ISO RGD:1318278 D RGD:7240710 20180130 OMIM 12031486 PEX7 peroxisomal biogenesis factor 7 gene DOID:9006365 Adult Refsum Disease, 2 ISO RGD:1318278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B PMID:10083738|PMID:10527683|PMID:10673331|PMID:11756410|PMID:11781871|PMID:12054588|PMID:12325024|PMID:12522768|PMID:14974078|PMID:16199547|PMID:17325280|PMID:17576681|PMID:1773541|PMID:20145307|PMID:20301447|PMID:21465523|PMID:21990100|PMID:22008564|PMID:22057399|PMID:23352163|PMID:23462609|PMID:23572185|PMID:24172221|PMID:25640679|PMID:25741868|PMID:25800479|PMID:25851898|PMID:26408048|PMID:26467025|PMID:26587300|PMID:28492532|PMID:8295403|PMID:9090381|PMID:9090382|PMID:9090383|PMID:9472033|PMID:9536098|PMID:9686382 12031505 MYL9 myosin light chain 9 gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1322585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visceral myopathy PMID:21293372|PMID:25741868|PMID:29453416|PMID:33031641 12031505 MYL9 myosin light chain 9 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1322585 D RGD:9068941 20200609 RGD PMID:16076902|REF_RGD_ID:1582589 12031505 MYL9 myosin light chain 9 gene DOID:178 vascular disease ISO RGD:1322585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18511912 12031505 MYL9 myosin light chain 9 gene DOID:2234 focal epilepsy ISO RGD:1322585 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12031505 MYL9 myosin light chain 9 gene DOID:4724 brain edema ISO RGD:1322585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17419808 12031505 MYL9 myosin light chain 9 gene DOID:630 genetic disease ISO RGD:1322585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12031505 MYL9 myosin light chain 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12031505 MYL9 myosin light chain 9 gene DOID:9006417 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 ISO RGD:1322585 D RGD:7240710 20210707 OMIM 12031505 MYL9 myosin light chain 9 gene DOID:9006417 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 ISO RGD:1322585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 PMID:21293372|PMID:25741868|PMID:33031641 12031523 C22H22orf39 chromosome 22 C22orf39 homolog gene DOID:0060041 autism spectrum disorder ISO RGD:1606462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12031523 C22H22orf39 chromosome 22 C22orf39 homolog gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1606462 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12031523 C22H22orf39 chromosome 22 C22orf39 homolog gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1606462 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12031523 C22H22orf39 chromosome 22 C22orf39 homolog gene DOID:0111996 immunodeficiency 51 ISO RGD:1606462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12031523 C22H22orf39 chromosome 22 C22orf39 homolog gene DOID:1059 intellectual disability ISO RGD:1606462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12031523 C22H22orf39 chromosome 22 C22orf39 homolog gene DOID:11198 DiGeorge syndrome ISO RGD:1606462 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12031523 C22H22orf39 chromosome 22 C22orf39 homolog gene DOID:11372 megacolon ISO RGD:1606462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12031523 C22H22orf39 chromosome 22 C22orf39 homolog gene DOID:12583 velocardiofacial syndrome ISO RGD:1606462 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12031523 C22H22orf39 chromosome 22 C22orf39 homolog gene DOID:12849 autistic disorder ISO RGD:1606462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12031523 C22H22orf39 chromosome 22 C22orf39 homolog gene DOID:1826 epilepsy ISO RGD:1606462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12031523 C22H22orf39 chromosome 22 C22orf39 homolog gene DOID:5419 schizophrenia ISO RGD:1606462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12031523 C22H22orf39 chromosome 22 C22orf39 homolog gene DOID:612 primary immunodeficiency disease ISO RGD:1606462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12031523 C22H22orf39 chromosome 22 C22orf39 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12031523 C22H22orf39 chromosome 22 C22orf39 homolog gene DOID:9007661 Dwarfism ISO RGD:1606462 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12031523 C22H22orf39 chromosome 22 C22orf39 homolog gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1606462 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12031576 LOC100971068 olfactory receptor 10V1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350461 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12031576 LOC100971068 olfactory receptor 10V1 gene DOID:1059 intellectual disability ISO RGD:1350461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12031576 LOC100971068 olfactory receptor 10V1 gene DOID:630 genetic disease ISO RGD:1350461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12031579 HOXA11 homeobox A11 gene DOID:2213 hemorrhagic disease ISO RGD:735680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 12031579 HOXA11 homeobox A11 gene DOID:2256 osteochondrodysplasia ISO RGD:735680 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35253374 12031579 HOXA11 homeobox A11 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12031579 HOXA11 homeobox A11 gene DOID:557 kidney disease ISO RGD:735680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7596412 12031579 HOXA11 homeobox A11 gene DOID:630 genetic disease ISO RGD:735680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12031579 HOXA11 homeobox A11 gene DOID:9001611 Urogenital Abnormalities ISO RGD:735680 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35253374 12031579 HOXA11 homeobox A11 gene DOID:9002496 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia ISO RGD:735680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24239177 12031579 HOXA11 homeobox A11 gene DOID:9002739 Female Urogenital Diseases ISO RGD:735680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 12031579 HOXA11 homeobox A11 gene DOID:9004998 Kyphoscoliosis ISO RGD:1564605 D RGD:9068941 20200609 RGD mRNA:decreased expression:verterbra PMID:18327665|REF_RGD_ID:11354896 12031579 HOXA11 homeobox A11 gene DOID:9006251 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 ISO RGD:735680 D RGD:7240710 20190320 OMIM 12031579 HOXA11 homeobox A11 gene DOID:9006251 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 ISO RGD:735680 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 PMID:11101832|PMID:25741868 12031579 HOXA11 homeobox A11 gene DOID:9006294 Congenital Limb Deformities ISO RGD:735680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7596412 12031579 HOXA11 homeobox A11 gene DOID:9006836 Contracture ISO RGD:735680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 12031579 HOXA11 homeobox A11 gene DOID:9007715 Endometrial Neoplasms ISO RGD:735680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16804899 12031579 HOXA11 homeobox A11 gene DOID:9827 radioulnar synostosis ISO RGD:735680 D RGD:9068941 20200609 RGD PMID:11101832|REF_RGD_ID:11353968 12031585 SPDL1 spindle apparatus coiled-coil protein 1 gene DOID:0111951 immunodeficiency 40 ISO RGD:1606284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:26083206|PMID:28492532 12031585 SPDL1 spindle apparatus coiled-coil protein 1 gene DOID:630 genetic disease ISO RGD:1606284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12031585 SPDL1 spindle apparatus coiled-coil protein 1 gene DOID:9008539 Perinatal Death ISO RGD:1606284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal death PMID:25558065 12031604 IRF9 interferon regulatory factor 9 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1318730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12031604 IRF9 interferon regulatory factor 9 gene DOID:0111978 immunodeficiency 65 ISO RGD:1318730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 65, susceptibility to viral infections PMID:30143481|PMID:30826365 12031604 IRF9 interferon regulatory factor 9 gene DOID:0111978 immunodeficiency 65 susceptibility ISO RGD:1318730 D RGD:7240710 20191127 OMIM 12031604 IRF9 interferon regulatory factor 9 gene DOID:1168 familial hyperlipidemia ISO RGD:1308766 D RGD:9068941 20210402 RGD associated with acute pancreatitis;protein:increased expression:kidney PMID:32462510|REF_RGD_ID:125093744 12031604 IRF9 interferon regulatory factor 9 gene DOID:11984 hypertrophic cardiomyopathy ameliorates ISO RGD:1318731 D RGD:9068941 20210402 RGD PMID:24144649|REF_RGD_ID:125093743 12031604 IRF9 interferon regulatory factor 9 gene DOID:11984 hypertrophic cardiomyopathy exacerbates ISO RGD:1318731 D RGD:9068941 20210402 RGD PMID:24144649|REF_RGD_ID:125093743 12031604 IRF9 interferon regulatory factor 9 gene DOID:12155 lymphocytic choriomeningitis ISO RGD:732185 D RGD:9068941 20210326 RGD PMID:24760883|REF_RGD_ID:124715479 12031604 IRF9 interferon regulatory factor 9 gene DOID:12155 lymphocytic choriomeningitis ameliorates ISO RGD:1318731 D RGD:9068941 20210326 RGD PMID:22496215|REF_RGD_ID:124715469 12031604 IRF9 interferon regulatory factor 9 gene DOID:12155 lymphocytic choriomeningitis disease_progression ISO RGD:1318731 D RGD:9068941 20210326 RGD DNA:mutation: : PMID:28878077|REF_RGD_ID:124715467 12031604 IRF9 interferon regulatory factor 9 gene DOID:1883 hepatitis C ISO RGD:1318730 D RGD:9068941 20210326 RGD protein:increased expression:liver PMID:26216956|REF_RGD_ID:11074283 12031604 IRF9 interferon regulatory factor 9 gene DOID:2913 acute pancreatitis ISO RGD:1308766 D RGD:9068941 20210402 RGD mRNA,protein:increased expression:kidney PMID:32462510|REF_RGD_ID:125093744 12031604 IRF9 interferon regulatory factor 9 gene DOID:630 genetic disease ISO RGD:1318730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12031604 IRF9 interferon regulatory factor 9 gene DOID:8704 genital herpes exacerbates ISO RGD:1318731 D RGD:9068941 20210402 RGD PMID:28264883|REF_RGD_ID:125093738 12031604 IRF9 interferon regulatory factor 9 gene DOID:9000099 Experimental Colitis ameliorates ISO RGD:1318731 D RGD:9068941 20210326 RGD PMID:25918247|REF_RGD_ID:124715468 12031604 IRF9 interferon regulatory factor 9 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1318730 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12031604 IRF9 interferon regulatory factor 9 gene DOID:9000438 Subarachnoid Hemorrhage ameliorates ISO RGD:1308766 D RGD:9068941 20210402 RGD PMID:29480757|REF_RGD_ID:125093745 12031604 IRF9 interferon regulatory factor 9 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1318730 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12031604 IRF9 interferon regulatory factor 9 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1318730 D RGD:9068941 20210402 RGD protein:increased expression:left ventricular free wall PMID:25150882|REF_RGD_ID:125093742 12031604 IRF9 interferon regulatory factor 9 gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:1318731 D RGD:9068941 20210402 RGD PMID:25150882|REF_RGD_ID:125093742 12031604 IRF9 interferon regulatory factor 9 gene DOID:9007838 Myocardial Reperfusion Injury exacerbates ISO RGD:1318731 D RGD:9068941 20210402 RGD PMID:25150882|REF_RGD_ID:125093742 12031634 UNC45B unc-45 myosin chaperone B gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:1313830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 12031634 UNC45B unc-45 myosin chaperone B gene DOID:0110259 cataract 43 ISO RGD:1313830 D RGD:7240710 20180130 OMIM 12031634 UNC45B unc-45 myosin chaperone B gene DOID:0110259 cataract 43 ISO RGD:1313830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 43 PMID:24549050|PMID:25741868 12031634 UNC45B unc-45 myosin chaperone B gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1313830 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A 12031634 UNC45B unc-45 myosin chaperone B gene DOID:114 heart disease ISO RGD:1313830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17189627 12031634 UNC45B unc-45 myosin chaperone B gene DOID:423 myopathy ISO RGD:1313830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:31852522|PMID:33217308 12031634 UNC45B unc-45 myosin chaperone B gene DOID:630 genetic disease ISO RGD:1313830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12356907|PMID:17189627|PMID:17586488|PMID:19348700|PMID:19504455|PMID:19834024|PMID:19854944|PMID:24549050|PMID:25348405|PMID:28492532|PMID:2981587 12031634 UNC45B unc-45 myosin chaperone B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12031634 UNC45B unc-45 myosin chaperone B gene DOID:9005246 Paralysis ISO RGD:1313830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17189627 12031634 UNC45B unc-45 myosin chaperone B gene DOID:9007506 Myofibrillar Myopathy 11 ISO RGD:1313830 D RGD:7240710 20210303 OMIM 12031634 UNC45B unc-45 myosin chaperone B gene DOID:9007506 Myofibrillar Myopathy 11 ISO RGD:1313830 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 11 PMID:25741868|PMID:31852522|PMID:33217308 12031634 UNC45B unc-45 myosin chaperone B gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1313830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17189627 12031665 CCNF cyclin F gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:736837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:29358611 12031665 CCNF cyclin F gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12031665 CCNF cyclin F gene DOID:0110532 autosomal recessive nonsyndromic deafness 86 ISO RGD:736837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 86 PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:29358611 12031665 CCNF cyclin F gene DOID:0110586 autosomal dominant nonsyndromic deafness 65 ISO RGD:736837 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 65 PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:29358611 12031665 CCNF cyclin F gene DOID:1389 polyneuropathy ISO RGD:736837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:25741868 12031665 CCNF cyclin F gene DOID:1826 epilepsy ISO RGD:736837 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizures PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:29358611 12031665 CCNF cyclin F gene DOID:1826 epilepsy ISO RGD:736837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12031665 CCNF cyclin F gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12031665 CCNF cyclin F gene DOID:308 early myoclonic encephalopathy ISO RGD:736837 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:29358611 12031665 CCNF cyclin F gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 12031665 CCNF cyclin F gene DOID:630 genetic disease ISO RGD:736837 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:29358611 12031665 CCNF cyclin F gene DOID:684 hepatocellular carcinoma ISO RGD:736837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12031665 CCNF cyclin F gene DOID:9005996 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-5 ISO RGD:736837 D RGD:7240710 20210113 OMIM 12031665 CCNF cyclin F gene DOID:9005996 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-5 ISO RGD:736837 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 PMID:25741868|PMID:27080313|PMID:28281833|PMID:31577344 12031665 CCNF cyclin F gene DOID:9007063 Myoclonic Epilepsy, Familial Infantile ISO RGD:736837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:29358611 12031665 CCNF cyclin F gene DOID:9255 frontotemporal dementia ISO RGD:736837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia 12031692 LOC100978865 nuclear RNA export factor 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12031692 LOC100978865 nuclear RNA export factor 2 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1346108 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 12031692 LOC100978865 nuclear RNA export factor 2 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1346108 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 12031692 LOC100978865 nuclear RNA export factor 2 gene DOID:12849 autistic disorder ISO RGD:1346108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12031692 LOC100978865 nuclear RNA export factor 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1346108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:23686279 12031692 LOC100978865 nuclear RNA export factor 2 gene DOID:630 genetic disease ISO RGD:1346108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12031714 MRPL45 mitochondrial ribosomal protein L45 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1312625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:24088041|PMID:26633545 12031714 MRPL45 mitochondrial ribosomal protein L45 gene DOID:1936 atherosclerosis ISO RGD:1312625 D RGD:9068941 20230128 RGD associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) PMID:33381146|REF_RGD_ID:155882464 12031714 MRPL45 mitochondrial ribosomal protein L45 gene DOID:630 genetic disease ISO RGD:1312625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12031722 CCDC9 coiled-coil domain containing 9 gene DOID:630 genetic disease ISO RGD:1348427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12031752 SAA4 serum amyloid A4, constitutive gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1316532 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 12031752 SAA4 serum amyloid A4, constitutive gene DOID:1059 intellectual disability ISO RGD:1316532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12031760 LOC100985575 40-kDa huntingtin-associated protein gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1346624 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12031760 LOC100985575 40-kDa huntingtin-associated protein gene DOID:0050476 Barth syndrome ISO RGD:1346624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12031760 LOC100985575 40-kDa huntingtin-associated protein gene DOID:0050800 creatine transporter deficiency ISO RGD:1346624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12031760 LOC100985575 40-kDa huntingtin-associated protein gene DOID:0112003 immunodeficiency 33 ISO RGD:1346624 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12031760 LOC100985575 40-kDa huntingtin-associated protein gene DOID:10588 adrenoleukodystrophy ISO RGD:1346624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12031760 LOC100985575 40-kDa huntingtin-associated protein gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1346624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12031760 LOC100985575 40-kDa huntingtin-associated protein gene DOID:12849 autistic disorder ISO RGD:1346624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12031760 LOC100985575 40-kDa huntingtin-associated protein gene DOID:607 paraplegia ISO RGD:1346624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12031760 LOC100985575 40-kDa huntingtin-associated protein gene DOID:9002720 Splenomegaly ISO RGD:1346624 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12031762 GBA2 glucosylceramidase beta 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1313721 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12031762 GBA2 glucosylceramidase beta 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1313721 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12031762 GBA2 glucosylceramidase beta 2 gene DOID:0080942 anauxetic dysplasia ISO RGD:1313721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12031762 GBA2 glucosylceramidase beta 2 gene DOID:0110798 hereditary spastic paraplegia 46 ISO RGD:1313721 D RGD:7240710 20180130 OMIM 12031762 GBA2 glucosylceramidase beta 2 gene DOID:0110798 hereditary spastic paraplegia 46 ISO RGD:1313721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 46 PMID:16199547|PMID:20593214|PMID:23332916|PMID:23332917|PMID:24252062|PMID:25741868|PMID:26220345|PMID:28492532|PMID:28832565|PMID:30308956 12031762 GBA2 glucosylceramidase beta 2 gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:1313721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A PMID:25741868|PMID:28492532|PMID:29453417 12031762 GBA2 glucosylceramidase beta 2 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1313721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12031762 GBA2 glucosylceramidase beta 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1313721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12031762 GBA2 glucosylceramidase beta 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1313721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 12031762 GBA2 glucosylceramidase beta 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1313721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:20593214|PMID:23332916|PMID:23332917|PMID:25741868|PMID:26220345|PMID:28492532|PMID:28832565 12031762 GBA2 glucosylceramidase beta 2 gene DOID:607 paraplegia ISO RGD:1313721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:17576681|PMID:23332916|PMID:23332917|PMID:25741868|PMID:26220345|PMID:28052128|PMID:28492532|PMID:29453417|PMID:32590105|PMID:9536098 12031762 GBA2 glucosylceramidase beta 2 gene DOID:630 genetic disease ISO RGD:1313721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23332916|PMID:23332917|PMID:25741868|PMID:28492532 12031762 GBA2 glucosylceramidase beta 2 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1313721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12031762 GBA2 glucosylceramidase beta 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313721 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12031762 GBA2 glucosylceramidase beta 2 gene DOID:9870 galactosemia ISO RGD:1313721 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12031789 CIR1 corepressor interacting with RBPJ, CIR1 gene DOID:0080600 COVID-19 ISO RGD:1602899 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12031789 CIR1 corepressor interacting with RBPJ, CIR1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1602899 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12031789 CIR1 corepressor interacting with RBPJ, CIR1 gene DOID:630 genetic disease ISO RGD:1602899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12031807 SLC32A1 solute carrier family 32 member 1 gene DOID:0060170 generalized epilepsy with febrile seizures plus ISO RGD:1346344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus 12031807 SLC32A1 solute carrier family 32 member 1 gene DOID:1826 epilepsy ISO RGD:1346344 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12031807 SLC32A1 solute carrier family 32 member 1 gene DOID:2234 focal epilepsy ISO RGD:1346344 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12031807 SLC32A1 solute carrier family 32 member 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:1553492 D RGD:9068941 20220825 MouseDO 12031807 SLC32A1 solute carrier family 32 member 1 gene DOID:630 genetic disease ISO RGD:1346344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12031818 DPF1 double PHD fingers 1 gene DOID:630 genetic disease ISO RGD:1606329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12031848 KLHL7 kelch like family member 7 gene DOID:0050646 distal arthrogryposis ISO RGD:1313665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis PMID:18414213|PMID:25741868|PMID:29074562 12031848 KLHL7 kelch like family member 7 gene DOID:0060294 cold-induced sweating syndrome ISO RGD:1313665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12031848 KLHL7 kelch like family member 7 gene DOID:0080329 cold-induced sweating syndrome 1 ISO RGD:1313665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 PMID:25741868|PMID:27392078 12031848 KLHL7 kelch like family member 7 gene DOID:0080331 cold-induced sweating syndrome 3 ISO RGD:1313665 D RGD:7240710 20190315 OMIM 12031848 KLHL7 kelch like family member 7 gene DOID:0080331 cold-induced sweating syndrome 3 ISO RGD:1313665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CRISPONI/COLD-INDUCED SWEATING SYNDROME 3 | ClinVar Annotator: match by term: PERCHING syndrome PMID:17576681|PMID:18414213|PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30300710|PMID:30426380|PMID:30997404|PMID:31953236|PMID:35670385|PMID:35699517|PMID:9536098 12031848 KLHL7 kelch like family member 7 gene DOID:0110386 retinitis pigmentosa 42 ISO RGD:1313665 D RGD:7240710 20180130 OMIM 12031848 KLHL7 kelch like family member 7 gene DOID:0110386 retinitis pigmentosa 42 ISO RGD:1313665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 42 PMID:17576681|PMID:1872134|PMID:19520207|PMID:21828050|PMID:22084217|PMID:25741868|PMID:28041643|PMID:28492532|PMID:31856884|PMID:35670385|PMID:9536098 12031848 KLHL7 kelch like family member 7 gene DOID:10584 retinitis pigmentosa ISO RGD:1313665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:19520207|PMID:21828050|PMID:25741868|PMID:27160483|PMID:28041643|PMID:28492532|PMID:31856884|PMID:32581362 12031848 KLHL7 kelch like family member 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12031848 KLHL7 kelch like family member 7 gene DOID:630 genetic disease ISO RGD:1313665 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21828050|PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30426380|PMID:31953236 12031848 KLHL7 kelch like family member 7 gene DOID:8501 fundus dystrophy ISO RGD:1313665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:19520207|PMID:21828050|PMID:25741868|PMID:28041643|PMID:28492532|PMID:31856884 12031848 KLHL7 kelch like family member 7 gene DOID:9001582 Bohring Syndrome ISO RGD:1313665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bohring-Opitz syndrome PMID:25741868 12031848 KLHL7 kelch like family member 7 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313665 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12031893 GPN2 GPN-loop GTPase 2 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1603309 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12031893 GPN2 GPN-loop GTPase 2 gene DOID:630 genetic disease ISO RGD:1603309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12031902 ZNF114 zinc finger protein 114 gene DOID:630 genetic disease ISO RGD:1351865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12031925 LRIG3 leucine rich repeats and immunoglobulin like domains 3 gene DOID:630 genetic disease ISO RGD:1347856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12031948 RNF145 ring finger protein 145 gene DOID:630 genetic disease ISO RGD:1602832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12031962 LOC100970188 HERV-H LTR-associating protein 3 gene DOID:1059 intellectual disability ISO RGD:1351999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12031977 SLC14A2 solute carrier family 14 member 2 gene DOID:0060356 Vici syndrome ISO RGD:731952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 12031977 SLC14A2 solute carrier family 14 member 2 gene DOID:1059 intellectual disability ISO RGD:731952 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12031977 SLC14A2 solute carrier family 14 member 2 gene DOID:630 genetic disease ISO RGD:731952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12031977 SLC14A2 solute carrier family 14 member 2 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:731952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 12032005 ASPHD1 aspartate beta-hydroxylase domain containing 1 gene DOID:0060019 coronin-1A deficiency ISO RGD:1605839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12032005 ASPHD1 aspartate beta-hydroxylase domain containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1605839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12032005 ASPHD1 aspartate beta-hydroxylase domain containing 1 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1605839 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 12032005 ASPHD1 aspartate beta-hydroxylase domain containing 1 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1605839 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 12032005 ASPHD1 aspartate beta-hydroxylase domain containing 1 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1605839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12032005 ASPHD1 aspartate beta-hydroxylase domain containing 1 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1605839 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 12032005 ASPHD1 aspartate beta-hydroxylase domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1605839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12032005 ASPHD1 aspartate beta-hydroxylase domain containing 1 gene DOID:1882 atrial heart septal defect ISO RGD:1605839 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12032005 ASPHD1 aspartate beta-hydroxylase domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1605839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12032005 ASPHD1 aspartate beta-hydroxylase domain containing 1 gene DOID:630 genetic disease ISO RGD:1605839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12032005 ASPHD1 aspartate beta-hydroxylase domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12032005 ASPHD1 aspartate beta-hydroxylase domain containing 1 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1605839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12032005 ASPHD1 aspartate beta-hydroxylase domain containing 1 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1605839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 12032021 ANKS1A ankyrin repeat and sterile alpha motif domain containing 1A gene DOID:0050553 JMP syndrome ISO RGD:1319381 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12032021 ANKS1A ankyrin repeat and sterile alpha motif domain containing 1A gene DOID:3393 coronary artery disease ISO RGD:1319381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 12032021 ANKS1A ankyrin repeat and sterile alpha motif domain containing 1A gene DOID:630 genetic disease ISO RGD:1319381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12032047 DMRT3 doublesex and mab-3 related transcription factor 3 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1314434 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12032047 DMRT3 doublesex and mab-3 related transcription factor 3 gene DOID:5426 primary ovarian insufficiency ISO RGD:1314434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12032047 DMRT3 doublesex and mab-3 related transcription factor 3 gene DOID:630 genetic disease ISO RGD:1314434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12032053 LOC100975471 suppression of tumorigenicity 18 protein gene DOID:630 genetic disease ISO RGD:736954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12032100 CWC22 CWC22 spliceosome associated protein homolog gene DOID:630 genetic disease ISO RGD:1605651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12032140 PLPP4 phospholipid phosphatase 4 gene DOID:1612 breast cancer ISO RGD:1351368 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:16818692|REF_RGD_ID:2314524 12032140 PLPP4 phospholipid phosphatase 4 gene DOID:630 genetic disease ISO RGD:1351368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12032155 NT5C3B 5'-nucleotidase, cytosolic IIIB gene DOID:630 genetic disease ISO RGD:1602442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12032188 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:3267 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:liver (rat) treatment with INT-767 PMID:30038487|REF_RGD_ID:15092090 12032188 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:10608 celiac disease ISO RGD:1347922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 12032188 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1347922 D RGD:9068941 20200609 RGD DNA:SNPs PMID:17440948|REF_RGD_ID:2311642 12032188 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:1347922 D RGD:9068941 20200609 RGD DNA:SNP: :rs8192708(human) PMID:20574532|REF_RGD_ID:10427727 12032188 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:4195 hyperglycemia ISO RGD:11062 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16271515|REF_RGD_ID:2311645 12032188 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:6000 congestive heart failure ISO RGD:1347922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 12032188 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:630 genetic disease ISO RGD:1347922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12032188 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1347922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144|PMID:28284560 12032188 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 12032188 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3267 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver: PMID:12538794|REF_RGD_ID:10448276 12032188 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:9003263 Phosphoenolpyruvate Carboxykinase Deficiency ISO RGD:1347922 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase (GTP) deficiency PMID:28492532 12032188 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1347922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20363216 12032188 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3267 D RGD:9068941 20200609 RGD PMID:17651728|REF_RGD_ID:2311641 12032188 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:9005930 Endotoxemia ISO RGD:3267 D RGD:9068941 20200609 RGD PMID:12217886|PMID:19268478|REF_RGD_ID:10427879|REF_RGD_ID:625688 12032188 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:9007493 Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic ISO RGD:1347922 D RGD:7240710 20230505 OMIM 12032188 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:9007493 Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic ISO RGD:1347922 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, cytosolic PMID:1092127|PMID:24863970|PMID:25741868|PMID:26971250|PMID:28216384|PMID:28492532|PMID:33445193 12032188 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:11062 D RGD:9068941 20200609 RGD PMID:18443203|REF_RGD_ID:2311640 12032188 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347922 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:19070910|REF_RGD_ID:2311639 12032188 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3267 D RGD:9068941 20200609 RGD PMID:17242918|REF_RGD_ID:2311643 12032188 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1347922 D RGD:9068941 20200609 RGD DNA:polymorphism:232C>G PMID:16978381|REF_RGD_ID:1601239 12032188 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1347922 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:C>G PMID:16620271|REF_RGD_ID:1601241 12032188 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:9970 obesity ISO RGD:1347922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12032208 YIPF3 Yip1 domain family member 3 gene DOID:0050444 infantile Refsum disease ISO RGD:1317816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12032208 YIPF3 Yip1 domain family member 3 gene DOID:4450 renal cell carcinoma ISO RGD:1317816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 12032208 YIPF3 Yip1 domain family member 3 gene DOID:630 genetic disease ISO RGD:1317816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12032208 YIPF3 Yip1 domain family member 3 gene DOID:905 Zellweger syndrome ISO RGD:1317816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12032233 SPTLC1 serine palmitoyltransferase long chain base subunit 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1315336 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 12032233 SPTLC1 serine palmitoyltransferase long chain base subunit 1 gene DOID:0070152 hereditary sensory and autonomic neuropathy type 1A ISO RGD:1315336 D RGD:7240710 20180130 OMIM 12032233 SPTLC1 serine palmitoyltransferase long chain base subunit 1 gene DOID:0070152 hereditary sensory and autonomic neuropathy type 1A ISO RGD:1315336 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1A | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type IA, severe PMID:11242106|PMID:11242114|PMID:11479835|PMID:12417569|PMID:13646503|PMID:14152213|PMID:14990347|PMID:15037712|PMID:15546589|PMID:16210380|PMID:16364956|PMID:17576681|PMID:18018475|PMID:18077166|PMID:19132419|PMID:19651702|PMID:19923297|PMID:20097765|PMID:20301564|PMID:20504773|PMID:21618344|PMID:22302274|PMID:23454272|PMID:24247255|PMID:24673574|PMID:25042817|PMID:25584079|PMID:25741868|PMID:26467025|PMID:26681808|PMID:28492532|PMID:30420926|PMID:31509666|PMID:32399692|PMID:32581362|PMID:34059824|PMID:34459874|PMID:34986032|PMID:8673084|PMID:9536098 12032233 SPTLC1 serine palmitoyltransferase long chain base subunit 1 gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1315336 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:11242106|PMID:11242114|PMID:11479835|PMID:12417569|PMID:13646503|PMID:14152213|PMID:14990347|PMID:15037712|PMID:15546589|PMID:16199547|PMID:16210380|PMID:16364956|PMID:17576681|PMID:18018475|PMID:19132419|PMID:19555464|PMID:19651702|PMID:19923297|PMID:20097765|PMID:20301564|PMID:20504773|PMID:21618344|PMID:22302274|PMID:23454272|PMID:24088041|PMID:24247255|PMID:24604904|PMID:24673574|PMID:25042817|PMID:25584079|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26681808|PMID:28492532|PMID:30373780|PMID:30420926|PMID:31509666|PMID:31742231|PMID:32376792|PMID:32399692|PMID:32581362|PMID:34103343|PMID:34459874|PMID:34986032|PMID:8673084|PMID:9536098 12032233 SPTLC1 serine palmitoyltransferase long chain base subunit 1 gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1315336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 12032233 SPTLC1 serine palmitoyltransferase long chain base subunit 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1315336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11242106|PMID:11242114|PMID:11479835|PMID:12417569|PMID:13646503|PMID:14152213|PMID:15037712|PMID:15546589|PMID:16210380|PMID:16364956|PMID:18018475|PMID:19132419|PMID:19555464|PMID:19651702|PMID:19923297|PMID:20097765|PMID:20504773|PMID:21618344|PMID:22302274|PMID:23454272|PMID:24247255|PMID:24604904|PMID:24673574|PMID:25584079|PMID:25741868|PMID:26467025|PMID:26681808|PMID:28166811|PMID:28492532|PMID:31509666|PMID:32376792|PMID:32581362 12032233 SPTLC1 serine palmitoyltransferase long chain base subunit 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1315336 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11242106|PMID:11242114|PMID:11479835|PMID:12417569|PMID:13646503|PMID:14152213|PMID:14990347|PMID:15037712|PMID:15546589|PMID:16210380|PMID:16364956|PMID:18018475|PMID:19132419|PMID:19555464|PMID:19651702|PMID:19923297|PMID:20097765|PMID:20301564|PMID:20504773|PMID:21618344|PMID:22302274|PMID:23454272|PMID:24247255|PMID:24604904|PMID:24673574|PMID:25042817|PMID:25584079|PMID:25741868|PMID:26467025|PMID:26681808|PMID:28492532|PMID:30420926|PMID:31509666|PMID:32376792|PMID:32399692|PMID:32581362|PMID:34103343|PMID:34459874|PMID:34986032|PMID:8673084 12032233 SPTLC1 serine palmitoyltransferase long chain base subunit 1 gene DOID:10907 microcephaly ISO RGD:1315336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12032233 SPTLC1 serine palmitoyltransferase long chain base subunit 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1315336 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532|PMID:34059824 12032233 SPTLC1 serine palmitoyltransferase long chain base subunit 1 gene DOID:630 genetic disease ISO RGD:1315336 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11242106|PMID:11242114|PMID:12417569|PMID:13646503|PMID:15037712|PMID:15546589|PMID:19132419|PMID:20097765|PMID:20301564|PMID:24673574|PMID:25042817|PMID:25584079|PMID:25741868|PMID:26681808|PMID:28492532|PMID:30420926|PMID:31509666|PMID:32376792|PMID:32399692|PMID:34103343|PMID:34986032|PMID:8673084 12032233 SPTLC1 serine palmitoyltransferase long chain base subunit 1 gene DOID:9005364 Amyotrophic Lateral Sclerosis Type 27 ISO RGD:1315336 D RGD:7240710 20230505 OMIM 12032233 SPTLC1 serine palmitoyltransferase long chain base subunit 1 gene DOID:9005364 Amyotrophic Lateral Sclerosis Type 27 ISO RGD:1315336 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 27, juvenile PMID:19651702|PMID:21618344|PMID:23454272|PMID:24247255|PMID:25741868|PMID:26681808|PMID:28492532|PMID:34059824|PMID:34459874|PMID:36204986 12032233 SPTLC1 serine palmitoyltransferase long chain base subunit 1 gene DOID:9277 primary cerebellar degeneration ISO RGD:1315336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorimotor neuropathy PMID:11242106|PMID:11242114|PMID:11479835|PMID:14152213|PMID:14990347|PMID:15546589|PMID:16210380|PMID:16364956|PMID:18018475|PMID:19132419|PMID:19923297|PMID:20301564|PMID:20504773|PMID:22302274|PMID:25741868|PMID:26681808|PMID:28492532|PMID:32581362 12032245 LAMP1 lysosomal associated membrane protein 1 gene DOID:0040084 Streptococcus pneumonia ISO RGD:10855 D RGD:9068941 20201117 RGD protein:increased expression:lung, natural killer cell (mouse) PMID:21887255|REF_RGD_ID:40818252 12032245 LAMP1 lysosomal associated membrane protein 1 gene DOID:2222 factor X deficiency ISO RGD:737544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12032245 LAMP1 lysosomal associated membrane protein 1 gene DOID:630 genetic disease ISO RGD:737544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12032258 MSX2 msh homeobox 2 gene DOID:0060285 parietal foramina ISO RGD:735997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranium bifidum occultum PMID:10742103|PMID:10742104|PMID:10767351|PMID:14571277|PMID:16319823|PMID:18786927|PMID:20301307|PMID:22948472|PMID:23918290|PMID:23949913|PMID:24666290|PMID:25741868|PMID:27013732|PMID:27884935|PMID:28492532|PMID:28808027|PMID:7597092|PMID:8106171|PMID:8357019|PMID:8968743|PMID:9256341 12032258 MSX2 msh homeobox 2 gene DOID:10763 hypertension ISO RGD:3116 D RGD:9068941 20200609 RGD PMID:18270471|REF_RGD_ID:5132616 12032258 MSX2 msh homeobox 2 gene DOID:2340 craniosynostosis ISO RGD:10921 D RGD:9068941 20220825 MouseDO OMIM:123100 | OMIM:182212 | OMIM:600593 | OMIM:600775 | OMIM:604757 | OMIM:615314 | OMIM:615529 12032258 MSX2 msh homeobox 2 gene DOID:2340 craniosynostosis ISO RGD:735997 D RGD:9068941 20200609 RGD craniosynostosis type 2, OMIM:604757, DNA:point mutation:exon:P148H PMID:8968743|REF_RGD_ID:1600491 12032258 MSX2 msh homeobox 2 gene DOID:630 genetic disease ISO RGD:735997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12032258 MSX2 msh homeobox 2 gene DOID:9002739 Female Urogenital Diseases ISO RGD:735997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16513791 12032258 MSX2 msh homeobox 2 gene DOID:9004512 Craniosynostosis 2 ISO RGD:735997 D RGD:7240710 20180130 OMIM 12032258 MSX2 msh homeobox 2 gene DOID:9004512 Craniosynostosis 2 ISO RGD:735997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniosynostosis 2 PMID:16319823|PMID:18786927|PMID:20301307|PMID:23918290|PMID:23949913|PMID:25741868|PMID:27013732|PMID:28492532|PMID:28808027|PMID:7597092|PMID:8106171|PMID:8357019|PMID:8968743|PMID:9256341 12032258 MSX2 msh homeobox 2 gene DOID:9004888 Parietal Foramina 1 ISO RGD:735997 D RGD:7240710 20190327 OMIM 12032258 MSX2 msh homeobox 2 gene DOID:9004888 Parietal Foramina 1 ISO RGD:735997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parietal foramina 1 PMID:10742103|PMID:10767351|PMID:16222674|PMID:25741868|PMID:28492532 12032258 MSX2 msh homeobox 2 gene DOID:9005263 Parietal Foramina with Cleidocranial Dysplasia ISO RGD:735997 D RGD:7240710 20180130 OMIM 12032258 MSX2 msh homeobox 2 gene DOID:9005263 Parietal Foramina with Cleidocranial Dysplasia ISO RGD:735997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia PMID:14571277 12032258 MSX2 msh homeobox 2 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:735997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome 12032258 MSX2 msh homeobox 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:735997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9147639 12032258 MSX2 msh homeobox 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:735997 D RGD:9068941 20200609 RGD parietal foramina, OMIM:168500, DNA:point mutation:exon: R172H, DNA:deletions PMID:10742103|REF_RGD_ID:1600492 12032258 MSX2 msh homeobox 2 gene DOID:9008763 Femoral Fractures ISO RGD:3116 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:bone, osteoblast, chondrocyte PMID:16451220|REF_RGD_ID:5132608 12032264 TMEM33 transmembrane protein 33 gene DOID:630 genetic disease ISO RGD:1353146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12032285 C1QTNF9 C1q and TNF related 9 gene DOID:1826 epilepsy ISO RGD:1602167 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12032285 C1QTNF9 C1q and TNF related 9 gene DOID:5419 schizophrenia ISO RGD:1602167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12032285 C1QTNF9 C1q and TNF related 9 gene DOID:630 genetic disease ISO RGD:1602167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12032287 POC1A POC1 centriolar protein A gene DOID:0060873 isolated growth hormone deficiency type IA ISO RGD:1353956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pituitary dwarfism 1 PMID:22840364|PMID:25558065|PMID:25741868|PMID:26336158|PMID:26374189|PMID:26791357|PMID:28492532 12032287 POC1A POC1 centriolar protein A gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1353956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 12032287 POC1A POC1 centriolar protein A gene DOID:10907 microcephaly ISO RGD:1353956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12032287 POC1A POC1 centriolar protein A gene DOID:630 genetic disease ISO RGD:1353956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12032287 POC1A POC1 centriolar protein A gene DOID:9003030 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis ISO RGD:1353956 D RGD:7240710 20180130 OMIM 12032287 POC1A POC1 centriolar protein A gene DOID:9003030 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis ISO RGD:1353956 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SOFT SYNDROME | ClinVar Annotator: match by term: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis PMID:18414213|PMID:22440536|PMID:22840363|PMID:22840364|PMID:25558065|PMID:25741868|PMID:26336158|PMID:26374189|PMID:26791357|PMID:28492532|PMID:30569574 12032314 ZNF580 zinc finger protein 580 gene DOID:630 genetic disease ISO RGD:1315767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12032324 TRIM36 tripartite motif containing 36 gene DOID:0060668 anencephaly ISO RGD:1318648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anencephaly PMID:28087737 12032324 TRIM36 tripartite motif containing 36 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318648 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12032324 TRIM36 tripartite motif containing 36 gene DOID:12849 autistic disorder ISO RGD:1318648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epsilon-trimethyllysine hydroxylase deficiency PMID:21681106|PMID:30208311 12032324 TRIM36 tripartite motif containing 36 gene DOID:630 genetic disease ISO RGD:1318648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12032324 TRIM36 tripartite motif containing 36 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12032324 TRIM36 tripartite motif containing 36 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318648 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12032324 TRIM36 tripartite motif containing 36 gene DOID:9009020 Anencephaly 1 ISO RGD:1318648 D RGD:7240710 20210728 OMIM 12032324 TRIM36 tripartite motif containing 36 gene DOID:9009020 Anencephaly 1 ISO RGD:1318648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anencephaly 1 PMID:25741868 12032379 CLK4 CDC like kinase 4 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1321078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12032379 CLK4 CDC like kinase 4 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1321078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12032379 CLK4 CDC like kinase 4 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1321078 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12032379 CLK4 CDC like kinase 4 gene DOID:630 genetic disease ISO RGD:1321078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12032412 CFAP410 cilia and flagella associated protein 410 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1320014 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 12032412 CFAP410 cilia and flagella associated protein 410 gene DOID:0050572 cone-rod dystrophy ISO RGD:1320014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:27596865|PMID:28492532|PMID:31456290 12032412 CFAP410 cilia and flagella associated protein 410 gene DOID:0050795 cone dystrophy ISO RGD:1320014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:25741868|PMID:26167768|PMID:26974433|PMID:27596865|PMID:28041643|PMID:28422394|PMID:28492532 12032412 CFAP410 cilia and flagella associated protein 410 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1320014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12032412 CFAP410 cilia and flagella associated protein 410 gene DOID:0110266 cataract 9 multiple types ISO RGD:1320014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12032412 CFAP410 cilia and flagella associated protein 410 gene DOID:0112299 axial spondylometaphyseal dysplasia ISO RGD:1320014 D RGD:7240710 20200506 OMIM 12032412 CFAP410 cilia and flagella associated protein 410 gene DOID:0112299 axial spondylometaphyseal dysplasia ISO RGD:1320014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Axial spondylometaphyseal dysplasia PMID:11702989|PMID:20503334|PMID:21910225|PMID:23105016|PMID:25741868|PMID:26167768|PMID:26974433|PMID:27548899|PMID:27596865|PMID:28041643|PMID:28422394|PMID:28492532|PMID:33307614 12032412 CFAP410 cilia and flagella associated protein 410 gene DOID:10584 retinitis pigmentosa ISO RGD:1320014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:23105016|PMID:25741868|PMID:26167768|PMID:26974433|PMID:27596865|PMID:28041643|PMID:28422394|PMID:28492532 12032412 CFAP410 cilia and flagella associated protein 410 gene DOID:12849 autistic disorder ISO RGD:1320014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12032412 CFAP410 cilia and flagella associated protein 410 gene DOID:14791 Leber congenital amaurosis ISO RGD:1320014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 12032412 CFAP410 cilia and flagella associated protein 410 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1320014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 12032412 CFAP410 cilia and flagella associated protein 410 gene DOID:8501 fundus dystrophy ISO RGD:1320014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:17576681|PMID:23105016|PMID:25741868|PMID:26167768|PMID:26974433|PMID:26992781|PMID:27548899|PMID:27596865|PMID:28041643|PMID:28422394|PMID:28492532|PMID:30029497|PMID:32036094|PMID:33307614|PMID:9536098 12032412 CFAP410 cilia and flagella associated protein 410 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320014 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12032412 CFAP410 cilia and flagella associated protein 410 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12032412 CFAP410 cilia and flagella associated protein 410 gene DOID:9007941 Retinal Dystrophy with or without Macular Staphyloma ISO RGD:1320014 D RGD:7240710 20190315 OMIM 12032412 CFAP410 cilia and flagella associated protein 410 gene DOID:9007941 Retinal Dystrophy with or without Macular Staphyloma ISO RGD:1320014 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy with or without macular staphyloma PMID:25741868|PMID:26167768|PMID:26294103|PMID:26974433|PMID:27548899|PMID:27596865|PMID:28041643|PMID:28422394|PMID:28492532|PMID:34915818 12032412 CFAP410 cilia and flagella associated protein 410 gene DOID:9263 homocystinuria ISO RGD:1320014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12032412 CFAP410 cilia and flagella associated protein 410 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12032430 WDTC1 WD and tetratricopeptide repeats 1 gene DOID:630 genetic disease ISO RGD:1321224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12032457 SLC2A11 solute carrier family 2 member 11 gene DOID:0070045 Coffin-Siris syndrome 3 ISO RGD:1354509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 12032457 SLC2A11 solute carrier family 2 member 11 gene DOID:0081135 agammaglobulinemia 2 ISO RGD:1354509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 12032457 SLC2A11 solute carrier family 2 member 11 gene DOID:1826 epilepsy ISO RGD:1354509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12032457 SLC2A11 solute carrier family 2 member 11 gene DOID:5419 schizophrenia ISO RGD:1354509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12032457 SLC2A11 solute carrier family 2 member 11 gene DOID:630 genetic disease ISO RGD:1354509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12032511 VANGL1 VANGL planar cell polarity protein 1 gene DOID:0050700 cardiomyopathy ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 12032511 VANGL1 VANGL planar cell polarity protein 1 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:24033266|PMID:25741868|PMID:28492532 12032511 VANGL1 VANGL planar cell polarity protein 1 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:24033266|PMID:25741868|PMID:28492532 12032511 VANGL1 VANGL planar cell polarity protein 1 gene DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 PMID:24033266|PMID:25741868|PMID:26196381|PMID:28492532 12032511 VANGL1 VANGL planar cell polarity protein 1 gene DOID:0080074 neural tube defect ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect | ClinVar Annotator: match by term: Neural tube defects, susceptibility to PMID:17409324|PMID:19319979|PMID:22892949|PMID:24033266|PMID:24307374|PMID:24407469|PMID:24452931|PMID:24838524|PMID:25068569|PMID:25208524|PMID:25741868|PMID:26196381|PMID:28492532 12032511 VANGL1 VANGL planar cell polarity protein 1 gene DOID:0080074 neural tube defect susceptibility ISO RGD:1319967 D RGD:7240710 20230517 OMIM 12032511 VANGL1 VANGL planar cell polarity protein 1 gene DOID:0080690 RASopathy ISO RGD:1319967 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12032511 VANGL1 VANGL planar cell polarity protein 1 gene DOID:0080700 caudal regression syndrome ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Caudal regression sequence | ClinVar Annotator: match by term: Sacral defect with anterior meningocele PMID:17409324|PMID:19319979|PMID:22892949|PMID:24033266|PMID:24307374|PMID:24407469|PMID:24452931|PMID:24838524|PMID:25068569|PMID:25208524|PMID:25741868|PMID:26196381|PMID:28492532 12032511 VANGL1 VANGL planar cell polarity protein 1 gene DOID:0080700 caudal regression syndrome susceptibility ISO RGD:1319967 D RGD:7240710 20230517 OMIM 12032511 VANGL1 VANGL planar cell polarity protein 1 gene DOID:10126 keratoconus ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 12032511 VANGL1 VANGL planar cell polarity protein 1 gene DOID:11836 clubfoot ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:25741868 12032511 VANGL1 VANGL planar cell polarity protein 1 gene DOID:630 genetic disease ISO RGD:1319967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12032511 VANGL1 VANGL planar cell polarity protein 1 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia PMID:24033266|PMID:25741868|PMID:28492532 12032524 ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:0050777 Joubert syndrome ISO RGD:1602162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12032524 ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1602162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 12032524 ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1602162 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 12032524 ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1602162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12032524 ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1602162 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12032524 ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:0081097 Rafiq syndrome ISO RGD:1602162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12032524 ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:1826 epilepsy ISO RGD:1602162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12032524 ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:630 genetic disease ISO RGD:1602162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12032524 ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1602162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12032600 BARHL1 BarH like homeobox 1 gene DOID:0060081 triple-receptor negative breast cancer ISO RGD:733588 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:28956815|REF_RGD_ID:14390165 12032600 BARHL1 BarH like homeobox 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:733588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12032600 BARHL1 BarH like homeobox 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:733588 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12032600 BARHL1 BarH like homeobox 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:733588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12032600 BARHL1 BarH like homeobox 1 gene DOID:0081097 Rafiq syndrome ISO RGD:733588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12032600 BARHL1 BarH like homeobox 1 gene DOID:10652 Alzheimer's disease ISO RGD:733588 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:28956815|REF_RGD_ID:14390165 12032600 BARHL1 BarH like homeobox 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12032600 BARHL1 BarH like homeobox 1 gene DOID:3070 high grade glioma ISO RGD:733588 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:28956815|REF_RGD_ID:14390165 12032600 BARHL1 BarH like homeobox 1 gene DOID:3652 Leigh disease ISO RGD:733588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12032600 BARHL1 BarH like homeobox 1 gene DOID:630 genetic disease ISO RGD:733588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12032600 BARHL1 BarH like homeobox 1 gene DOID:9004538 Hearing Loss ISO RGD:733589 D RGD:9068941 20200609 RGD PMID:12091321|REF_RGD_ID:14390166 12032609 EFL1 elongation factor like GTPase 1 gene DOID:2717 Bloom syndrome ISO RGD:1352796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12032609 EFL1 elongation factor like GTPase 1 gene DOID:3070 high grade glioma ISO RGD:1352796 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:25015090 12032609 EFL1 elongation factor like GTPase 1 gene DOID:630 genetic disease ISO RGD:1352796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:31151987 12032609 EFL1 elongation factor like GTPase 1 gene DOID:9009168 Shwachman-Diamond Syndrome 2 ISO RGD:1352796 D RGD:7240710 20200701 OMIM 12032609 EFL1 elongation factor like GTPase 1 gene DOID:9009168 Shwachman-Diamond Syndrome 2 ISO RGD:1352796 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Shwachman-Diamond syndrome 2 PMID:25741868|PMID:28331068|PMID:28492532|PMID:29970384|PMID:31151987|PMID:34115847 12032609 EFL1 elongation factor like GTPase 1 gene DOID:9256 colorectal cancer ISO RGD:1352796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12032611 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:0060163 body dysmorphic disorder ISO RGD:736329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 12032611 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:736329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 12032611 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:1059 intellectual disability ISO RGD:736329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 12032611 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:10907 microcephaly ISO RGD:736329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 12032611 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:1749 squamous cell carcinoma ISO RGD:736329 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 12032611 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:1826 epilepsy ISO RGD:736329 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12032611 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:1909 melanoma ISO RGD:736329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12032611 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:3070 high grade glioma ISO RGD:736329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276365 12032611 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:736329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22215748|PMID:22585869|PMID:22617245|PMID:22919003 12032611 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:3910 lung adenocarcinoma ISO RGD:736329 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:23724914|PMID:27993330 12032611 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:736329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12032611 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:9000495 Tremor ISO RGD:736329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 12032611 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:9007661 Dwarfism ISO RGD:736329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12032658 ABCB5 ATP binding cassette subfamily B member 5 gene DOID:1909 melanoma ISO RGD:1351002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15899824 12032658 ABCB5 ATP binding cassette subfamily B member 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12032658 ABCB5 ATP binding cassette subfamily B member 5 gene DOID:630 genetic disease ISO RGD:1351002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12032658 ABCB5 ATP binding cassette subfamily B member 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12032689 UBXN10 UBX domain protein 10 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1318044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12032689 UBXN10 UBX domain protein 10 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1318044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12032689 UBXN10 UBX domain protein 10 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1318044 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12032689 UBXN10 UBX domain protein 10 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1318044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12032689 UBXN10 UBX domain protein 10 gene DOID:630 genetic disease ISO RGD:1318044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12032689 UBXN10 UBX domain protein 10 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1318044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12032703 TDG thymine DNA glycosylase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1346610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12032703 TDG thymine DNA glycosylase gene DOID:630 genetic disease ISO RGD:1346610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12032703 TDG thymine DNA glycosylase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1617602 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland tumor (mouse) PMID:9794235|REF_RGD_ID:2317355 12032717 THNSL2 threonine synthase like 2 gene DOID:630 genetic disease ISO RGD:1605368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12032748 ABCG1 ATP binding cassette subfamily G member 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:732853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12032748 ABCG1 ATP binding cassette subfamily G member 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:732853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12032748 ABCG1 ATP binding cassette subfamily G member 1 gene DOID:630 genetic disease ISO RGD:732853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12032748 ABCG1 ATP binding cassette subfamily G member 1 gene DOID:783 end stage renal disease ISO RGD:732853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 12032748 ABCG1 ATP binding cassette subfamily G member 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:732853 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12032748 ABCG1 ATP binding cassette subfamily G member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12032748 ABCG1 ATP binding cassette subfamily G member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12032748 ABCG1 ATP binding cassette subfamily G member 1 gene DOID:9004657 Weight Gain ISO RGD:732853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17194745 12032748 ABCG1 ATP binding cassette subfamily G member 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12032748 ABCG1 ATP binding cassette subfamily G member 1 gene DOID:9263 homocystinuria ISO RGD:732853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12032748 ABCG1 ATP binding cassette subfamily G member 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:732853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12032777 SRP68 signal recognition particle 68 gene DOID:37 skin disease ISO RGD:1313366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12032777 SRP68 signal recognition particle 68 gene DOID:630 genetic disease ISO RGD:1313366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12032777 SRP68 signal recognition particle 68 gene DOID:9007964 Arsenic Poisoning ISO RGD:1313366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12032777 SRP68 signal recognition particle 68 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1313366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 12032797 CIROP ciliated left-right organizer metallopeptidase gene DOID:9004727 Visceral Heterotaxy 12, Autosomal ISO RGD:13208685 D RGD:7240710 20220209 OMIM 12032797 CIROP ciliated left-right organizer metallopeptidase gene DOID:9004727 Visceral Heterotaxy 12, Autosomal ISO RGD:13208685 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 12, autosomal PMID:25741868 12032815 CNTRL centriolin gene DOID:12712 nephronophthisis ISO RGD:1557555 D RGD:9068941 20220825 MouseDO 12032815 CNTRL centriolin gene DOID:630 genetic disease ISO RGD:1313275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12032862 UNC80 unc-80 homolog, NALCN channel complex subunit gene DOID:0060041 autism spectrum disorder ISO RGD:1350674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 12032862 UNC80 unc-80 homolog, NALCN channel complex subunit gene DOID:1059 intellectual disability ISO RGD:1350674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 12032862 UNC80 unc-80 homolog, NALCN channel complex subunit gene DOID:10907 microcephaly ISO RGD:1350674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12032862 UNC80 unc-80 homolog, NALCN channel complex subunit gene DOID:14557 primary pulmonary hypertension ISO RGD:1350674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12032862 UNC80 unc-80 homolog, NALCN channel complex subunit gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1350674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12032862 UNC80 unc-80 homolog, NALCN channel complex subunit gene DOID:630 genetic disease ISO RGD:1350674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:25741868|PMID:26545877|PMID:26708751|PMID:26708753|PMID:28191889|PMID:28492532|PMID:9536098 12032862 UNC80 unc-80 homolog, NALCN channel complex subunit gene DOID:9000999 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 ISO RGD:1350674 D RGD:7240710 20190315 OMIM 12032862 UNC80 unc-80 homolog, NALCN channel complex subunit gene DOID:9000999 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 ISO RGD:1350674 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | ClinVar Annotator: match by term: UNC80-Related Disorder PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:25741873|PMID:26545877|PMID:26708751|PMID:26708753|PMID:28492532|PMID:28708303|PMID:29430593|PMID:30167850|PMID:30771478|PMID:31130284|PMID:31607746|PMID:31839005|PMID:32712949|PMID:9536098 12032862 UNC80 unc-80 homolog, NALCN channel complex subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12032862 UNC80 unc-80 homolog, NALCN channel complex subunit gene DOID:9006603 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies ISO RGD:1350674 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies PMID:24033266|PMID:25741868|PMID:26545877|PMID:26708751|PMID:26708753|PMID:28492532 12032862 UNC80 unc-80 homolog, NALCN channel complex subunit gene DOID:9008086 Developmental Disabilities ISO RGD:1350674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 12032862 UNC80 unc-80 homolog, NALCN channel complex subunit gene DOID:936 brain disease ISO RGD:1350674 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868|PMID:26708753 12032937 C3H3orf20 chromosome 3 C3orf20 homolog gene DOID:0060417 3p deletion syndrome ISO RGD:1343380 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12032937 C3H3orf20 chromosome 3 C3orf20 homolog gene DOID:630 genetic disease ISO RGD:1343380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12032959 APOO apolipoprotein O gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12032959 APOO apolipoprotein O gene DOID:12849 autistic disorder ISO RGD:1603962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12032959 APOO apolipoprotein O gene DOID:3650 lactic acidosis ISO RGD:1603962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lactic acidosis 12032959 APOO apolipoprotein O gene DOID:630 genetic disease ISO RGD:1603962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12032959 APOO apolipoprotein O gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12033012 ZSCAN31 zinc finger and SCAN domain containing 31 gene DOID:11372 megacolon ISO RGD:1605639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12033012 ZSCAN31 zinc finger and SCAN domain containing 31 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605639 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:28722770 12033012 ZSCAN31 zinc finger and SCAN domain containing 31 gene DOID:630 genetic disease ISO RGD:1605639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033040 SLC37A4 solute carrier family 37 member 4 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1351082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12033040 SLC37A4 solute carrier family 37 member 4 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1351082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12033040 SLC37A4 solute carrier family 37 member 4 gene DOID:0080690 RASopathy ISO RGD:1351082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12033040 SLC37A4 solute carrier family 37 member 4 gene DOID:0081329 glycogen storage disease I ISO RGD:1351082 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency | ClinVar Annotator: match by term: Glycogen storage disease, type I PMID:10482962|PMID:10923042|PMID:10940311|PMID:12444104|PMID:15669677|PMID:15757503|PMID:17994282|PMID:20578944|PMID:22899091|PMID:25741868|PMID:26913919|PMID:28492532|PMID:28685844|PMID:9758626 12033040 SLC37A4 solute carrier family 37 member 4 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1351082 D RGD:7240710 20180130 OMIM 12033040 SLC37A4 solute carrier family 37 member 4 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1351082 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GSD Ib | ClinVar Annotator: match by term: Glucose-6-phosphate transport defect | ClinVar Annotator: match by term: Glycogen storage disease Ib PMID:10026167|PMID:10323254|PMID:10482875|PMID:10482962|PMID:10508514|PMID:10518030|PMID:10874322|PMID:10923042|PMID:10931421|PMID:10940311|PMID:11071391|PMID:11949931|PMID:12373566|PMID:12409273|PMID:12444104|PMID:15059622|PMID:15260472|PMID:15669677|PMID:15757503|PMID:15906092|PMID:15953877|PMID:16199547|PMID:16716283|PMID:17307551|PMID:17576681|PMID:17994282|PMID:18337460|PMID:18437526|PMID:18835800|PMID:18996862|PMID:19454374|PMID:20301489|PMID:20386986|PMID:20578944|PMID:21575371|PMID:21629566|PMID:21659346|PMID:21983240|PMID:22899091|PMID:23810759|PMID:24033266|PMID:24385852|PMID:24565827|PMID:24646511|PMID:24745989|PMID:25308557|PMID:25741868|PMID:25881301|PMID:25982172|PMID:26913919|PMID:27848944|PMID:28224773|PMID:28394482|PMID:28492532|PMID:28685844|PMID:29119402|PMID:29146883|PMID:29549044|PMID:29581464|PMID:30290665|PMID:31508908|PMID:31617422|PMID:32300528|PMID:32374048|PMID:32884905|PMID:33083013|PMID:33728255|PMID:33731098|PMID:33964207|PMID:33977030|PMID:3728255|PMID:9428641|PMID:9536098|PMID:9598717|PMID:9675154|PMID:9758626|PMID:9781688 12033040 SLC37A4 solute carrier family 37 member 4 gene DOID:0081331 glycogen storage disease Ic ISO RGD:1351082 D RGD:7240710 20180130 OMIM 12033040 SLC37A4 solute carrier family 37 member 4 gene DOID:0081331 glycogen storage disease Ic ISO RGD:1351082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GSD Ic PMID:10026167|PMID:10323254|PMID:10482962|PMID:10508514|PMID:10518030|PMID:10923042|PMID:10931421|PMID:10940311|PMID:11071391|PMID:11949931|PMID:12373566|PMID:12444104|PMID:15059622|PMID:15669677|PMID:15757503|PMID:15906092|PMID:15953877|PMID:17307551|PMID:17576681|PMID:18337460|PMID:18835800|PMID:18996862|PMID:20301489|PMID:20578944|PMID:21575371|PMID:21629566|PMID:22899091|PMID:23810759|PMID:24033266|PMID:24385852|PMID:24565827|PMID:24646511|PMID:25741868|PMID:25982172|PMID:26913919|PMID:28224773|PMID:28394482|PMID:28492532|PMID:32374048|PMID:32884905|PMID:33728255|PMID:33964207|PMID:33977030|PMID:3728255|PMID:9428641|PMID:9536098|PMID:9598717|PMID:9675154|PMID:9758626|PMID:9781688 12033040 SLC37A4 solute carrier family 37 member 4 gene DOID:0110651 long QT syndrome 10 ISO RGD:1351082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12033040 SLC37A4 solute carrier family 37 member 4 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1351082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12033040 SLC37A4 solute carrier family 37 member 4 gene DOID:0111971 immunodeficiency 18 ISO RGD:1351082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12033040 SLC37A4 solute carrier family 37 member 4 gene DOID:0111972 immunodeficiency 19 ISO RGD:1351082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12033040 SLC37A4 solute carrier family 37 member 4 gene DOID:0111973 immunodeficiency 17 ISO RGD:1351082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12033040 SLC37A4 solute carrier family 37 member 4 gene DOID:2747 glycogen storage disease ISO RGD:1351082 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease PMID:10026167|PMID:10323254|PMID:10482962|PMID:10923042|PMID:10940311|PMID:15953877|PMID:20301489|PMID:22899091|PMID:24033266|PMID:24646511|PMID:25741868|PMID:26913919|PMID:28224773|PMID:28492532|PMID:9758626|PMID:9781688 12033040 SLC37A4 solute carrier family 37 member 4 gene DOID:2749 glycogen storage disease Ia ISO RGD:1351082 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Hepatorenal glycogenosis PMID:20578944|PMID:25741868|PMID:28492532 12033040 SLC37A4 solute carrier family 37 member 4 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1351082 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:25741868|PMID:32884905|PMID:33728255|PMID:33964207|PMID:3728255 12033040 SLC37A4 solute carrier family 37 member 4 gene DOID:5419 schizophrenia ISO RGD:1351082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12033040 SLC37A4 solute carrier family 37 member 4 gene DOID:630 genetic disease ISO RGD:1351082 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10026167|PMID:10323254|PMID:10482962|PMID:10923042|PMID:10940311|PMID:15953877|PMID:20301489|PMID:22899091|PMID:24033266|PMID:24646511|PMID:25741868|PMID:26913919|PMID:28224773|PMID:28492532|PMID:9758626|PMID:9781688 12033040 SLC37A4 solute carrier family 37 member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 12033040 SLC37A4 solute carrier family 37 member 4 gene DOID:9002132 Congenital Disorder of Glycosylation Type IIw ISO RGD:1351082 D RGD:7240710 20210929 OMIM 12033040 SLC37A4 solute carrier family 37 member 4 gene DOID:9002132 Congenital Disorder of Glycosylation Type IIw ISO RGD:1351082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIw | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIw PMID:10026167|PMID:10323254|PMID:10482962|PMID:10508514|PMID:10518030|PMID:10923042|PMID:10931421|PMID:10940311|PMID:11071391|PMID:11949931|PMID:12373566|PMID:12444104|PMID:15059622|PMID:15669677|PMID:15906092|PMID:15953877|PMID:17307551|PMID:17576681|PMID:18337460|PMID:18835800|PMID:20301489|PMID:21575371|PMID:21629566|PMID:22899091|PMID:23810759|PMID:24033266|PMID:24385852|PMID:24565827|PMID:24646511|PMID:25741868|PMID:25982172|PMID:26913919|PMID:28224773|PMID:28394482|PMID:28492532|PMID:32884905|PMID:33728255|PMID:33964207|PMID:3728255|PMID:9428641|PMID:9536098|PMID:9675154|PMID:9758626|PMID:9781688 12033040 SLC37A4 solute carrier family 37 member 4 gene DOID:9002258 Glucose-6-Phosphate Translocase Deficiency ISO RGD:1351082 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate translocase deficiency PMID:10508514|PMID:10940311|PMID:12444104|PMID:15906092|PMID:23810759|PMID:25741868|PMID:28394482|PMID:28492532|PMID:9781688 12033040 SLC37A4 solute carrier family 37 member 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1351082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12033040 SLC37A4 solute carrier family 37 member 4 gene DOID:9005369 Hepatomegaly ISO RGD:1351082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatomegaly PMID:10923042|PMID:12444104|PMID:15669677|PMID:17994282|PMID:26913919|PMID:28492532|PMID:28685844 12033040 SLC37A4 solute carrier family 37 member 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:62066 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:10567346|REF_RGD_ID:1625641 12033040 SLC37A4 solute carrier family 37 member 4 gene DOID:9007661 Dwarfism ISO RGD:1351082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12033075 C21H21orf62 chromosome 21 C21orf62 homolog gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1343736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12033075 C21H21orf62 chromosome 21 C21orf62 homolog gene DOID:0060898 Parkinson's disease 20 ISO RGD:1343736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12033075 C21H21orf62 chromosome 21 C21orf62 homolog gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1343736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12033075 C21H21orf62 chromosome 21 C21orf62 homolog gene DOID:630 genetic disease ISO RGD:1343736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033075 C21H21orf62 chromosome 21 C21orf62 homolog gene DOID:9005698 ZTTK Syndrome ISO RGD:1343736 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 12033085 FSCN1 fascin actin-bundling protein 1 gene DOID:1793 pancreatic cancer severity ISO RGD:1344433 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:17696949|REF_RGD_ID:2317785 12033085 FSCN1 fascin actin-bundling protein 1 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1344433 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:12109856|REF_RGD_ID:2317790 12033085 FSCN1 fascin actin-bundling protein 1 gene DOID:4608 common bile duct neoplasm ISO RGD:1344433 D RGD:9068941 20200609 RGD mRNA, protein:increased expression: : PMID:15136764|REF_RGD_ID:2317789 12033085 FSCN1 fascin actin-bundling protein 1 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1344433 D RGD:9068941 20200609 RGD protein:increased expression:bile ducts PMID:19721413|REF_RGD_ID:2317780 12033085 FSCN1 fascin actin-bundling protein 1 gene DOID:630 genetic disease ISO RGD:1344433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033085 FSCN1 fascin actin-bundling protein 1 gene DOID:9000011 Gallbladder Neoplasms severity ISO RGD:1344433 D RGD:9068941 20200609 RGD PMID:19259612|REF_RGD_ID:2317784 12033085 FSCN1 fascin actin-bundling protein 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1344433 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:15626919|REF_RGD_ID:2317788 12033085 FSCN1 fascin actin-bundling protein 1 gene DOID:9002936 Bile Duct Neoplasms disease_progression ISO RGD:1344433 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:17419223|REF_RGD_ID:2317786 12033094 LOC100970690 melanoma-associated antigen 8 gene DOID:0060041 autism spectrum disorder ISO RGD:1348802 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12033094 LOC100970690 melanoma-associated antigen 8 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348802 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12033094 LOC100970690 melanoma-associated antigen 8 gene DOID:12849 autistic disorder ISO RGD:1348802 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12033094 LOC100970690 melanoma-associated antigen 8 gene DOID:630 genetic disease ISO RGD:1348802 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033095 PFN4 profilin family member 4 gene DOID:630 genetic disease ISO RGD:1347216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033114 IMPDH2 inosine monophosphate dehydrogenase 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1353070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12033114 IMPDH2 inosine monophosphate dehydrogenase 2 gene DOID:543 dystonia ISO RGD:1353070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder 12033114 IMPDH2 inosine monophosphate dehydrogenase 2 gene DOID:630 genetic disease ISO RGD:1353070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033114 IMPDH2 inosine monophosphate dehydrogenase 2 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1353070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12033114 IMPDH2 inosine monophosphate dehydrogenase 2 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1353070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12033114 IMPDH2 inosine monophosphate dehydrogenase 2 gene DOID:9006205 Animal Disease Models ISO RGD:1353070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12033133 INSM2 INSM transcriptional repressor 2 gene DOID:630 genetic disease ISO RGD:1315853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033133 INSM2 INSM transcriptional repressor 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1315853 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12033137 LOC100972546 protein NipSnap homolog 3B gene DOID:0080957 primary hypoalphalipoproteinemia 1 ISO RGD:1348563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 PMID:12009425|PMID:12054535|PMID:15262183|PMID:15935359|PMID:16429166|PMID:18199144|PMID:22923420|PMID:22995991|PMID:23087442|PMID:23139370|PMID:24497850|PMID:25215231|PMID:25741868|PMID:26255038|PMID:26350511|PMID:28492532|PMID:29535370|PMID:31973102|PMID:32041611 12033137 LOC100972546 protein NipSnap homolog 3B gene DOID:1388 Tangier disease ISO RGD:1348563 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tangier disease PMID:11476965|PMID:15935359|PMID:16429166|PMID:18199144|PMID:22923420|PMID:22995991|PMID:23087442|PMID:23139370|PMID:24497850|PMID:25215231|PMID:25741868|PMID:26350511|PMID:28492532|PMID:31973102|PMID:32041611 12033137 LOC100972546 protein NipSnap homolog 3B gene DOID:630 genetic disease ISO RGD:1348563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033137 LOC100972546 protein NipSnap homolog 3B gene DOID:9002117 Hypoalphalipoproteinemias ISO RGD:1348563 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease PMID:16429166|PMID:23139370|PMID:25215231|PMID:28492532 12033147 PRRG4 proline rich and Gla domain 4 gene DOID:1059 intellectual disability ISO RGD:1346309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12033147 PRRG4 proline rich and Gla domain 4 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1346309 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 12033147 PRRG4 proline rich and Gla domain 4 gene DOID:630 genetic disease ISO RGD:1346309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033162 RNF215 ring finger protein 215 gene DOID:630 genetic disease ISO RGD:1606686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033175 TRIM11 tripartite motif containing 11 gene DOID:1540 parathyroid carcinoma ISO RGD:1313482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12033175 TRIM11 tripartite motif containing 11 gene DOID:630 genetic disease ISO RGD:1313482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033175 TRIM11 tripartite motif containing 11 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12033187 TIMM22 translocase of inner mitochondrial membrane 22 gene DOID:0112116 combined oxidative phosphorylation deficiency 43 ISO RGD:1345582 D RGD:7240710 20200429 OMIM 12033187 TIMM22 translocase of inner mitochondrial membrane 22 gene DOID:0112116 combined oxidative phosphorylation deficiency 43 ISO RGD:1345582 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 43 PMID:22638997|PMID:25741868|PMID:30452684 12033187 TIMM22 translocase of inner mitochondrial membrane 22 gene DOID:630 genetic disease ISO RGD:1345582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033195 XRCC3 X-ray repair cross complementing 3 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1315699 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12033195 XRCC3 X-ray repair cross complementing 3 gene DOID:1612 breast cancer ISO RGD:1315699 D RGD:7240710 20230517 OMIM 12033195 XRCC3 X-ray repair cross complementing 3 gene DOID:1612 breast cancer ISO RGD:1315699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to PMID:12023982 12033195 XRCC3 X-ray repair cross complementing 3 gene DOID:1793 pancreatic cancer ISO RGD:1315699 D RGD:9068941 20200609 RGD DNA:SNP:cd:rs861539 (human) PMID:18559563|REF_RGD_ID:2317130 12033195 XRCC3 X-ray repair cross complementing 3 gene DOID:1909 melanoma ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11059748 12033195 XRCC3 X-ray repair cross complementing 3 gene DOID:2394 ovarian cancer ISO RGD:1315699 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 12033195 XRCC3 X-ray repair cross complementing 3 gene DOID:2513 basal cell carcinoma ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16501254 12033195 XRCC3 X-ray repair cross complementing 3 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315699 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 PMID:25741868 12033195 XRCC3 X-ray repair cross complementing 3 gene DOID:630 genetic disease ISO RGD:1315699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12033195 XRCC3 X-ray repair cross complementing 3 gene DOID:6846 familial melanoma ISO RGD:1315699 D RGD:7240710 20230517 OMIM 12033195 XRCC3 X-ray repair cross complementing 3 gene DOID:6846 familial melanoma ISO RGD:1315699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 6 PMID:11059748 12033195 XRCC3 X-ray repair cross complementing 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21347786 12033195 XRCC3 X-ray repair cross complementing 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21347786 12033195 XRCC3 X-ray repair cross complementing 3 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22613844 12033195 XRCC3 X-ray repair cross complementing 3 gene DOID:9003566 Mesothelioma ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16564556 12033195 XRCC3 X-ray repair cross complementing 3 gene DOID:9004464 Skin Neoplasms ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11059748|PMID:16501254 12033195 XRCC3 X-ray repair cross complementing 3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21283680 12033195 XRCC3 X-ray repair cross complementing 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21283680 12033195 XRCC3 X-ray repair cross complementing 3 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22613844 12033195 XRCC3 X-ray repair cross complementing 3 gene DOID:9008914 Lead Poisoning ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23803535 12033195 XRCC3 X-ray repair cross complementing 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12023982 12033223 ZFYVE26 zinc finger FYVE-type containing 26 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1317236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:18779497|PMID:19011012|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23847139|PMID:24265693|PMID:24474277|PMID:24625443|PMID:25412400|PMID:25494902|PMID:25561519|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26667666|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28512305|PMID:2855908|PMID:28559085|PMID:29178642|PMID:30372751|PMID:30718709|PMID:9536098 12033223 ZFYVE26 zinc finger FYVE-type containing 26 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1317236 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: Retinitis pigmentosa 53 PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:18779497|PMID:19011012|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:24265693|PMID:24474277|PMID:24625443|PMID:25412400|PMID:25494902|PMID:25561519|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26667666|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28512305|PMID:2855908|PMID:28559085|PMID:29178642|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31456290|PMID:31630094|PMID:32014858|PMID:32141364|PMID:32790509|PMID:34001834|PMID:9536098 12033223 ZFYVE26 zinc finger FYVE-type containing 26 gene DOID:0110768 hereditary spastic paraplegia 15 ISO RGD:1317236 D RGD:7240710 20180130 OMIM 12033223 ZFYVE26 zinc finger FYVE-type containing 26 gene DOID:0110768 hereditary spastic paraplegia 15 ISO RGD:1317236 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 15 | ClinVar Annotator: match by term: Recessive spastic paraplegia with retinal degeneration PMID:11342696|PMID:16199547|PMID:17576681|PMID:17661097|PMID:18098276|PMID:18394578|PMID:19805727|PMID:19917823|PMID:23733235|PMID:24088041|PMID:24833714|PMID:25133958|PMID:25497598|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26492578|PMID:26633545|PMID:27217339|PMID:27544497|PMID:28492532|PMID:28832565|PMID:29246610|PMID:29858556|PMID:30555096|PMID:31108397|PMID:6944241|PMID:9536098 12033223 ZFYVE26 zinc finger FYVE-type containing 26 gene DOID:10584 retinitis pigmentosa ISO RGD:1317236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:18779497|PMID:19011012|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26667666|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31456290|PMID:32141364|PMID:32790509|PMID:34001834 12033223 ZFYVE26 zinc finger FYVE-type containing 26 gene DOID:1059 intellectual disability ISO RGD:1317236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:18394578|PMID:19805727|PMID:25741868|PMID:27544497|PMID:28492532 12033223 ZFYVE26 zinc finger FYVE-type containing 26 gene DOID:1242 globe disease ISO RGD:1317236 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Globe disease PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:20301475|PMID:20683928|PMID:22065924|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26667666|PMID:28041643|PMID:28492532 12033223 ZFYVE26 zinc finger FYVE-type containing 26 gene DOID:14791 Leber congenital amaurosis ISO RGD:1317236 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17576681|PMID:19011012|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:24265693|PMID:24474277|PMID:24625443|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26667666|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29186038|PMID:30134391|PMID:30543658|PMID:30902645|PMID:30979730|PMID:31456290|PMID:32141364|PMID:32790509|PMID:32865313|PMID:34001834|PMID:9536098 12033223 ZFYVE26 zinc finger FYVE-type containing 26 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1317236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:16199547|PMID:17576681|PMID:18394578|PMID:19805727|PMID:19917823|PMID:24088041|PMID:24833714|PMID:25133958|PMID:25741868|PMID:26467025|PMID:26633545|PMID:28492532|PMID:28832565|PMID:31108397|PMID:6944241|PMID:9536098 12033223 ZFYVE26 zinc finger FYVE-type containing 26 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1317236 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:16199547|PMID:17576681|PMID:18394578|PMID:19805727|PMID:19917823|PMID:24088041|PMID:24833714|PMID:25133958|PMID:25741868|PMID:26467025|PMID:26633545|PMID:28492532|PMID:28832565|PMID:29246610|PMID:31108397|PMID:6944241|PMID:9536098 12033223 ZFYVE26 zinc finger FYVE-type containing 26 gene DOID:4448 macular degeneration ISO RGD:1317236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:16269441|PMID:17512964|PMID:19011012|PMID:21151602|PMID:23591405|PMID:25412400|PMID:25494902|PMID:25741868|PMID:28492532|PMID:30902645|PMID:30979730|PMID:32790509|PMID:34001834 12033223 ZFYVE26 zinc finger FYVE-type containing 26 gene DOID:607 paraplegia ISO RGD:1317236 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:11342696|PMID:16199547|PMID:17576681|PMID:17661097|PMID:18394578|PMID:18414213|PMID:19084844|PMID:19763152|PMID:19805727|PMID:19917823|PMID:20307669|PMID:21462267|PMID:22406018|PMID:24030950|PMID:24088041|PMID:24833714|PMID:25133958|PMID:25497598|PMID:25741868|PMID:26467025|PMID:26492578|PMID:26633545|PMID:26944241|PMID:27217339|PMID:27544497|PMID:28492532|PMID:28832565|PMID:29246610|PMID:29858556|PMID:30555096|PMID:31108397|PMID:6944241|PMID:9536098 12033223 ZFYVE26 zinc finger FYVE-type containing 26 gene DOID:630 genetic disease ISO RGD:1317236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:18394578|PMID:19805727|PMID:19917823|PMID:24030950|PMID:24833714|PMID:25741868|PMID:26467025|PMID:28492532 12033223 ZFYVE26 zinc finger FYVE-type containing 26 gene DOID:8501 fundus dystrophy ISO RGD:1317236 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17576681|PMID:18779497|PMID:20301475|PMID:20683928|PMID:20736127|PMID:22065924|PMID:23847139|PMID:24265693|PMID:24625443|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26667666|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29178642|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30979730|PMID:31456290|PMID:32141364|PMID:9536098 12033223 ZFYVE26 zinc finger FYVE-type containing 26 gene DOID:9008296 Eye Abnormalities ISO RGD:1317236 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:20301475|PMID:20683928|PMID:22065924|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26667666|PMID:28041643|PMID:28492532 12033269 NCOA6 nuclear receptor coactivator 6 gene DOID:0050700 cardiomyopathy ISO RGD:735678 D RGD:9068941 20230323 RGD PMID:26029872|REF_RGD_ID:158014899 12033269 NCOA6 nuclear receptor coactivator 6 gene DOID:12930 dilated cardiomyopathy ISO RGD:735678 D RGD:9068941 20220825 MouseDO 12033269 NCOA6 nuclear receptor coactivator 6 gene DOID:1324 lung cancer ISO RGD:735677 D RGD:9068941 20200609 RGD DNA:amplification:cds (human) PMID:10567404|REF_RGD_ID:9590137 12033269 NCOA6 nuclear receptor coactivator 6 gene DOID:1612 breast cancer ISO RGD:735677 D RGD:9068941 20200609 RGD DNA:amplification:cds (human) PMID:10567404|REF_RGD_ID:9590137 12033269 NCOA6 nuclear receptor coactivator 6 gene DOID:219 colon cancer ISO RGD:735677 D RGD:9068941 20200609 RGD DNA:amplification:cds (human) PMID:10567404|REF_RGD_ID:9590137 12033269 NCOA6 nuclear receptor coactivator 6 gene DOID:2843 long QT syndrome ISO RGD:735677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12033269 NCOA6 nuclear receptor coactivator 6 gene DOID:289 endometriosis ISO RGD:735677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 12033269 NCOA6 nuclear receptor coactivator 6 gene DOID:630 genetic disease ISO RGD:735677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033269 NCOA6 nuclear receptor coactivator 6 gene DOID:9352 type 2 diabetes mellitus ISO RGD:620111 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet (rat) PMID:16738321|REF_RGD_ID:9590126 12033302 LOC100977810 olfactory receptor 51I2 gene DOID:13938 amenorrhea ISO RGD:1346805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12033302 LOC100977810 olfactory receptor 51I2 gene DOID:630 genetic disease ISO RGD:1346805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033307 ATG13 autophagy related 13 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1602498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12033307 ATG13 autophagy related 13 gene DOID:10283 prostate cancer ISO RGD:1602498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12033307 ATG13 autophagy related 13 gene DOID:1059 intellectual disability ISO RGD:1602498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12033307 ATG13 autophagy related 13 gene DOID:630 genetic disease ISO RGD:1602498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033359 ITGA2 integrin subunit alpha 2 gene DOID:0060573 von Willebrand's disease 1 no_association ISO RGD:1348738 D RGD:9068941 20200609 RGD DNA:SNP: :807C>T (human) PMID:14652648|REF_RGD_ID:11530070 12033359 ITGA2 integrin subunit alpha 2 gene DOID:0060573 von Willebrand's disease 1 severity ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:15226188|REF_RGD_ID:10766468 12033359 ITGA2 integrin subunit alpha 2 gene DOID:0060574 von Willebrand's disease 2 severity ISO RGD:1348738 D RGD:9068941 20200609 RGD DNA:haplotype:promoter: PMID:16409463|REF_RGD_ID:10766469 12033359 ITGA2 integrin subunit alpha 2 gene DOID:0060903 thrombosis ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:14563646|REF_RGD_ID:1582298 12033359 ITGA2 integrin subunit alpha 2 gene DOID:0060903 thrombosis susceptibility ISO RGD:1348738 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;DNA:snp:cds:c.807C>T (human) PMID:12412731|REF_RGD_ID:1582300 12033359 ITGA2 integrin subunit alpha 2 gene DOID:0081267 graft-versus-host disease treatment ISO RGD:1553829 D RGD:9068941 20200609 RGD PMID:11489992|REF_RGD_ID:8693305 12033359 ITGA2 integrin subunit alpha 2 gene DOID:0111045 platelet-type bleeding disorder 9 ISO RGD:1348738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COLLAGEN PLATELET RECEPTOR DEFICIENCY | ClinVar Annotator: match by term: Platelet-type bleeding disorder 9 PMID:19500323|PMID:22862885|PMID:23368983|PMID:25741868|PMID:28492532 12033359 ITGA2 integrin subunit alpha 2 gene DOID:0111163 molybdenum cofactor deficiency type B ISO RGD:1348738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group B 12033359 ITGA2 integrin subunit alpha 2 gene DOID:0111165 molybdenum cofactor deficiency ISO RGD:1348738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency 12033359 ITGA2 integrin subunit alpha 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1348738 D RGD:9068941 20200609 RGD DNA:snp:cds:c.807C>T (rs1126643) (human) PMID:22948415|REF_RGD_ID:8686432 12033359 ITGA2 integrin subunit alpha 2 gene DOID:11758 iron deficiency anemia ISO RGD:1348738 D RGD:9068941 20200609 RGD DNA:SNP: :807C>T (human) PMID:12225391|REF_RGD_ID:11530068 12033359 ITGA2 integrin subunit alpha 2 gene DOID:13241 Behcet's disease susceptibility ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:12412731|REF_RGD_ID:1582300 12033359 ITGA2 integrin subunit alpha 2 gene DOID:13514 venous tributary occlusion of retina no_association ISO RGD:1348738 D RGD:9068941 20200609 RGD DNA:snp:cds:g.807C>T (human) PMID:16157382|REF_RGD_ID:1582301 12033359 ITGA2 integrin subunit alpha 2 gene DOID:1588 thrombocytopenia ISO RGD:1348738 D RGD:9068941 20200609 RGD associated with Hantavirus Infections;DNA:SNP: :807C>T (rs1126643) (human) PMID:22133274|REF_RGD_ID:11530072 12033359 ITGA2 integrin subunit alpha 2 gene DOID:1727 retinal vein occlusion ISO RGD:1348738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12928694 12033359 ITGA2 integrin subunit alpha 2 gene DOID:1727 retinal vein occlusion susceptibility ISO RGD:1348738 D RGD:9068941 20200609 RGD DNA:snp, haplotype:cds:g.807C>T (human) PMID:12928694|REF_RGD_ID:8686430 12033359 ITGA2 integrin subunit alpha 2 gene DOID:2219 Glanzmann's thrombasthenia severity ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:14687991|REF_RGD_ID:1582297 12033359 ITGA2 integrin subunit alpha 2 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:11978651|REF_RGD_ID:1582304 12033359 ITGA2 integrin subunit alpha 2 gene DOID:289 endometriosis ISO RGD:1348738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12033359 ITGA2 integrin subunit alpha 2 gene DOID:3393 coronary artery disease no_association ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:15227729|REF_RGD_ID:1582294 12033359 ITGA2 integrin subunit alpha 2 gene DOID:3611 acute retinal necrosis syndrome ISO RGD:1553829 D RGD:9068941 20200609 RGD protein:increased expression:eye anterior segment, natural killer cell (mouse) PMID:19387084|REF_RGD_ID:8693207 12033359 ITGA2 integrin subunit alpha 2 gene DOID:3891 placental insufficiency ISO RGD:621632 D RGD:9068941 20200609 RGD mRNA:decreased expression:placenta (rat) PMID:20621762|REF_RGD_ID:5147460 12033359 ITGA2 integrin subunit alpha 2 gene DOID:552 pneumonia treatment ISO RGD:1553829 D RGD:9068941 20200609 RGD PMID:11207307|REF_RGD_ID:8693217 12033359 ITGA2 integrin subunit alpha 2 gene DOID:5844 myocardial infarction ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:10194421|REF_RGD_ID:1581029 12033359 ITGA2 integrin subunit alpha 2 gene DOID:5844 myocardial infarction no_association ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:15227729|REF_RGD_ID:1582294 12033359 ITGA2 integrin subunit alpha 2 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:16697311|REF_RGD_ID:1582296 12033359 ITGA2 integrin subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1348738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033359 ITGA2 integrin subunit alpha 2 gene DOID:8805 intermediate coronary syndrome susceptibility ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:15104219|REF_RGD_ID:1582303 12033359 ITGA2 integrin subunit alpha 2 gene DOID:8947 diabetic retinopathy no_association ISO RGD:1348738 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:snp:cds:c.807T>C (human) PMID:21632096|REF_RGD_ID:8686431 12033359 ITGA2 integrin subunit alpha 2 gene DOID:8947 diabetic retinopathy no_association ISO RGD:1348738 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:snp:intron:IVS8-1059T>C (human) PMID:18806884|REF_RGD_ID:2313281 12033359 ITGA2 integrin subunit alpha 2 gene DOID:8947 diabetic retinopathy severity ISO RGD:1348738 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus; DNA:transition:cds:807C>T (human) PMID:12540964|REF_RGD_ID:2307419 12033359 ITGA2 integrin subunit alpha 2 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1348738 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:snp:intron:IVS7+3160A>G (human) PMID:23776381|REF_RGD_ID:7777103 12033359 ITGA2 integrin subunit alpha 2 gene DOID:9000064 Cardiac Arrhythmias no_association ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:10822074|REF_RGD_ID:1582305 12033359 ITGA2 integrin subunit alpha 2 gene DOID:9000099 Experimental Colitis treatment ISO RGD:1553829 D RGD:9068941 20200609 RGD PMID:16534417|REF_RGD_ID:11530069 12033359 ITGA2 integrin subunit alpha 2 gene DOID:9000528 Coronary Disease no_association ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:9684730|REF_RGD_ID:1582306 12033359 ITGA2 integrin subunit alpha 2 gene DOID:9002165 Diabetic Nephropathies severity ISO RGD:1348738 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:mesangial cell (human) PMID:8989742|REF_RGD_ID:2307420 12033359 ITGA2 integrin subunit alpha 2 gene DOID:9002211 Hyperalgesia ISO RGD:1348738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18234883 12033359 ITGA2 integrin subunit alpha 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:1553829 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:altered expression:natural killer cell (mouse) PMID:19321657|REF_RGD_ID:2307421 12033359 ITGA2 integrin subunit alpha 2 gene DOID:9003340 Neonatal Alloimmune Thrombocytopenia ISO RGD:1348738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal and neonatal alloimmune thrombocytopenia PMID:23368983|PMID:25741868 12033359 ITGA2 integrin subunit alpha 2 gene DOID:9003817 Sudden Hearing Loss susceptibility ISO RGD:1348738 D RGD:9068941 20200609 RGD DNA:SNP: :807C>T (human) PMID:16525573|REF_RGD_ID:1582302 12033359 ITGA2 integrin subunit alpha 2 gene DOID:9003871 Venous Thrombosis no_association ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:16380674|REF_RGD_ID:1582295 12033359 ITGA2 integrin subunit alpha 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12033359 ITGA2 integrin subunit alpha 2 gene DOID:9007096 Stroke no_association ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:12871362|REF_RGD_ID:1582299 12033359 ITGA2 integrin subunit alpha 2 gene DOID:9007096 Stroke susceptibility ISO RGD:1348738 D RGD:9068941 20200609 RGD DNA:SNP::807C>T(human) PMID:25207168|REF_RGD_ID:13592606 12033359 ITGA2 integrin subunit alpha 2 gene DOID:9007402 Gliosis ISO RGD:1348738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12851778 12033359 ITGA2 integrin subunit alpha 2 gene DOID:9007456 Female Infertility ISO RGD:1553829 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:altered expression:natural killer cell (mouse) PMID:19146775|REF_RGD_ID:2307422 12033359 ITGA2 integrin subunit alpha 2 gene DOID:9351 diabetes mellitus ISO RGD:1348738 D RGD:9068941 20200609 RGD protein:increased expression:monocyte (human) PMID:17466965|REF_RGD_ID:2307424 12033359 ITGA2 integrin subunit alpha 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1348738 D RGD:9068941 20200609 RGD protein:increased expression:platelet (human) PMID:15025679|REF_RGD_ID:2307425 12033359 ITGA2 integrin subunit alpha 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1553829 D RGD:9068941 20200609 RGD protein:altered expression:thymocyte (mouse) PMID:18567821|REF_RGD_ID:2307423 12033393 NAMPT nicotinamide phosphoribosyltransferase gene DOID:0060180 colitis ISO RGD:1351636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23810507 12033393 NAMPT nicotinamide phosphoribosyltransferase gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:631365 D RGD:9068941 20220915 RGD PMID:27982256|REF_RGD_ID:153352323 12033393 NAMPT nicotinamide phosphoribosyltransferase gene DOID:0080600 COVID-19 ISO RGD:1351636 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12033393 NAMPT nicotinamide phosphoribosyltransferase gene DOID:0080600 COVID-19 ISO RGD:1351636 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12033393 NAMPT nicotinamide phosphoribosyltransferase gene DOID:1074 kidney failure treatment ISO RGD:631365 D RGD:9068941 20200609 RGD PMID:25594614|REF_RGD_ID:13781896 12033393 NAMPT nicotinamide phosphoribosyltransferase gene DOID:224 transient cerebral ischemia treatment ISO RGD:1351636 D RGD:9068941 20200609 RGD PMID:25603815|REF_RGD_ID:13781895 12033393 NAMPT nicotinamide phosphoribosyltransferase gene DOID:224 transient cerebral ischemia treatment ISO RGD:631365 D RGD:9068941 20200609 RGD PMID:28528966|REF_RGD_ID:13781879 12033393 NAMPT nicotinamide phosphoribosyltransferase gene DOID:3042 allergic contact dermatitis ISO RGD:1351636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 12033393 NAMPT nicotinamide phosphoribosyltransferase gene DOID:3393 coronary artery disease ISO RGD:1351636 D RGD:9068941 20200609 RGD PMID:17283255|REF_RGD_ID:1642340 12033393 NAMPT nicotinamide phosphoribosyltransferase gene DOID:3407 carotid artery disease ISO RGD:1351636 D RGD:9068941 20200609 RGD mRNA:increased expression:carotid artery PMID:17283255|REF_RGD_ID:1642340 12033393 NAMPT nicotinamide phosphoribosyltransferase gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:631365 D RGD:9068941 20200609 RGD PMID:28495827|REF_RGD_ID:13781880 12033393 NAMPT nicotinamide phosphoribosyltransferase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12033393 NAMPT nicotinamide phosphoribosyltransferase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1351636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28501332 12033393 NAMPT nicotinamide phosphoribosyltransferase gene DOID:630 genetic disease ISO RGD:1351636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033393 NAMPT nicotinamide phosphoribosyltransferase gene DOID:6432 pulmonary hypertension ISO RGD:1332214 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:28202489|REF_RGD_ID:13781882 12033393 NAMPT nicotinamide phosphoribosyltransferase gene DOID:6432 pulmonary hypertension ISO RGD:1351636 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung,pulmonary arterial endothelial cell: PMID:28202489|REF_RGD_ID:13781882 12033393 NAMPT nicotinamide phosphoribosyltransferase gene DOID:6432 pulmonary hypertension ISO RGD:631365 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:28202489|REF_RGD_ID:13781882 12033393 NAMPT nicotinamide phosphoribosyltransferase gene DOID:6432 pulmonary hypertension susceptibility ISO RGD:1332214 D RGD:9068941 20200609 RGD PMID:28202489|REF_RGD_ID:13781882 12033393 NAMPT nicotinamide phosphoribosyltransferase gene DOID:824 periodontitis ISO RGD:631365 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus;mRNA:increased expression:adipose tissue: PMID:26456152|REF_RGD_ID:13781894 12033393 NAMPT nicotinamide phosphoribosyltransferase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:631365 D RGD:9068941 20200609 RGD protein:decreased expression:fat cell PMID:18410550|REF_RGD_ID:2311099 12033393 NAMPT nicotinamide phosphoribosyltransferase gene DOID:9006646 Metabolic Syndrome ISO RGD:1351636 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17556870|REF_RGD_ID:1642337 12033393 NAMPT nicotinamide phosphoribosyltransferase gene DOID:9006646 Metabolic Syndrome ISO RGD:631365 D RGD:9068941 20200609 RGD DNA:repeats:intron PMID:15922301|REF_RGD_ID:1642345 12033393 NAMPT nicotinamide phosphoribosyltransferase gene DOID:9007364 Mouth Neoplasms ISO RGD:1351636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28501332 12033393 NAMPT nicotinamide phosphoribosyltransferase gene DOID:9007692 Insulin Resistance ISO RGD:1351636 D RGD:9068941 20200609 RGD associated with Polycystic Ovary Syndrome;protein:increased expression:serum PMID:17582143|REF_RGD_ID:1642341 12033393 NAMPT nicotinamide phosphoribosyltransferase gene DOID:9007980 Sleep Deprivation ISO RGD:631365 D RGD:9068941 20200609 RGD RNA:increased expression:liver: PMID:28860003|REF_RGD_ID:13781877 12033393 NAMPT nicotinamide phosphoribosyltransferase gene DOID:9008091 Optic Nerve Injuries treatment ISO RGD:631365 D RGD:9068941 20200609 RGD PMID:28032230|REF_RGD_ID:13781885 12033393 NAMPT nicotinamide phosphoribosyltransferase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351636 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:23922874|PMID:32005247 12033393 NAMPT nicotinamide phosphoribosyltransferase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351636 D RGD:9068941 20200609 RGD protein:decreased expression:adipose tissue PMID:16234302|REF_RGD_ID:2311119 12033393 NAMPT nicotinamide phosphoribosyltransferase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351636 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18410550|REF_RGD_ID:2311099 12033393 NAMPT nicotinamide phosphoribosyltransferase gene DOID:9970 obesity ISO RGD:1351636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23834033 12033393 NAMPT nicotinamide phosphoribosyltransferase gene DOID:9970 obesity ISO RGD:1351636 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17618961|REF_RGD_ID:1642336 12033440 FAM184B family with sequence similarity 184 member B gene DOID:303 substance-related disorder ISO RGD:2301273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12033440 FAM184B family with sequence similarity 184 member B gene DOID:630 genetic disease ISO RGD:2301273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033463 INTS4 integrator complex subunit 4 gene DOID:1059 intellectual disability ISO RGD:1603936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12033463 INTS4 integrator complex subunit 4 gene DOID:630 genetic disease ISO RGD:1603936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033463 INTS4 integrator complex subunit 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1603936 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 12033475 AAMP angio associated migratory cell protein gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1607091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12033475 AAMP angio associated migratory cell protein gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1607091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12033475 AAMP angio associated migratory cell protein gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1607091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12033475 AAMP angio associated migratory cell protein gene DOID:630 genetic disease ISO RGD:1607091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033475 AAMP angio associated migratory cell protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12033494 MTRF1 mitochondrial translation release factor 1 gene DOID:630 genetic disease ISO RGD:1352853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033526 TMEM45A transmembrane protein 45A gene DOID:0080600 COVID-19 ISO RGD:1344791 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12033526 TMEM45A transmembrane protein 45A gene DOID:630 genetic disease ISO RGD:1344791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033526 TMEM45A transmembrane protein 45A gene DOID:9005172 Lung Neoplasms ISO RGD:1344791 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12033544 ABRAXAS2 abraxas 2, BRISC complex subunit gene DOID:630 genetic disease ISO RGD:1318962 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033557 CCDC18 coiled-coil domain containing 18 gene DOID:630 genetic disease ISO RGD:1601798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033589 MINDY4 MINDY lysine 48 deubiquitinase 4 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1604570 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12033589 MINDY4 MINDY lysine 48 deubiquitinase 4 gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1604570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 12033589 MINDY4 MINDY lysine 48 deubiquitinase 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12033589 MINDY4 MINDY lysine 48 deubiquitinase 4 gene DOID:630 genetic disease ISO RGD:1604570 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033615 LUZP4 leucine zipper protein 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12033615 LUZP4 leucine zipper protein 4 gene DOID:11476 osteoporosis ISO RGD:1352485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 PMID:24088041|PMID:26633545 12033615 LUZP4 leucine zipper protein 4 gene DOID:12849 autistic disorder ISO RGD:1352485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12033615 LUZP4 leucine zipper protein 4 gene DOID:630 genetic disease ISO RGD:1352485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033623 LOC100985441 olfactory receptor 52N4 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1352153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12033623 LOC100985441 olfactory receptor 52N4 gene DOID:630 genetic disease ISO RGD:1352153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033628 IL7 interleukin 7 gene DOID:0080600 COVID-19 ISO RGD:737457 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:31986264 12033628 IL7 interleukin 7 gene DOID:0080600 COVID-19 severity ISO RGD:737457 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 12033628 IL7 interleukin 7 gene DOID:0080642 Middle East respiratory syndrome onset ISO RGD:737458 D RGD:9068941 20200609 RGD mRNA:altered expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 12033628 IL7 interleukin 7 gene DOID:10603 glucose intolerance ISO RGD:737457 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20376352 12033628 IL7 interleukin 7 gene DOID:10652 Alzheimer's disease ISO RGD:737457 D RGD:9068941 20200609 RGD PMID:22571981|REF_RGD_ID:10402933 12033628 IL7 interleukin 7 gene DOID:2377 multiple sclerosis ISO RGD:737457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17660816 12033628 IL7 interleukin 7 gene DOID:2945 severe acute respiratory syndrome ISO RGD:737458 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 12033628 IL7 interleukin 7 gene DOID:3070 high grade glioma ISO RGD:2904 D RGD:9068941 20200609 RGD PMID:10078962|REF_RGD_ID:727266 12033628 IL7 interleukin 7 gene DOID:3388 periodontal disease ISO RGD:2904 D RGD:9068941 20200609 RGD PMID:20618701|REF_RGD_ID:5024938 12033628 IL7 interleukin 7 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:737457 D RGD:9068941 20220204 RGD PMID:21159243|REF_RGD_ID:151347686 12033628 IL7 interleukin 7 gene DOID:4195 hyperglycemia ISO RGD:737457 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20376352 12033628 IL7 interleukin 7 gene DOID:614 lymphopenia ISO RGD:737457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17151827 12033628 IL7 interleukin 7 gene DOID:630 genetic disease ISO RGD:737457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033628 IL7 interleukin 7 gene DOID:9000998 Brain Injuries ISO RGD:737457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 12033628 IL7 interleukin 7 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:737458 D RGD:9068941 20200609 RGD PMID:18992278|REF_RGD_ID:10402929 12033628 IL7 interleukin 7 gene DOID:9004283 Transplant Rejection ISO RGD:2904 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:17532783|REF_RGD_ID:10402939 12033628 IL7 interleukin 7 gene DOID:9004313 Epidermodysplasia Verruciformis 5 ISO RGD:737457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5 PMID:25981006 12033628 IL7 interleukin 7 gene DOID:9004313 Epidermodysplasia Verruciformis 5 susceptibility ISO RGD:737457 D RGD:7240710 20190502 OMIM 12033628 IL7 interleukin 7 gene DOID:9004657 Weight Gain ISO RGD:737457 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20376352 12033628 IL7 interleukin 7 gene DOID:9004914 Postmenopausal Osteoporosis treatment ISO RGD:737458 D RGD:9068941 20200609 RGD PMID:23662133|REF_RGD_ID:10402930 12033628 IL7 interleukin 7 gene DOID:9007692 Insulin Resistance ISO RGD:737457 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20376352 12033628 IL7 interleukin 7 gene DOID:9970 obesity ISO RGD:737457 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20376352 12033641 ACADL acyl-CoA dehydrogenase long chain gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:733759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency 12033641 ACADL acyl-CoA dehydrogenase long chain gene DOID:14557 primary pulmonary hypertension ISO RGD:733759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12033641 ACADL acyl-CoA dehydrogenase long chain gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:733759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12033641 ACADL acyl-CoA dehydrogenase long chain gene DOID:630 genetic disease ISO RGD:733759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033641 ACADL acyl-CoA dehydrogenase long chain gene DOID:9002882 Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:733759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long chain acyl-CoA dehydrogenase deficiency PMID:25741868 12033641 ACADL acyl-CoA dehydrogenase long chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12033660 ZNF219 zinc finger protein 219 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1347695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 12033660 ZNF219 zinc finger protein 219 gene DOID:630 genetic disease ISO RGD:1347695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033660 ZNF219 zinc finger protein 219 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1347695 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12033704 DCLRE1A DNA cross-link repair 1A gene DOID:630 genetic disease ISO RGD:1314610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033725 ICA1L islet cell autoantigen 1 like gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1346474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12033725 ICA1L islet cell autoantigen 1 like gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1346474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12033725 ICA1L islet cell autoantigen 1 like gene DOID:14557 primary pulmonary hypertension ISO RGD:1346474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12033725 ICA1L islet cell autoantigen 1 like gene DOID:3393 coronary artery disease ISO RGD:1346474 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 12033725 ICA1L islet cell autoantigen 1 like gene DOID:630 genetic disease ISO RGD:1346474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033725 ICA1L islet cell autoantigen 1 like gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1346474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12033725 ICA1L islet cell autoantigen 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12033725 ICA1L islet cell autoantigen 1 like gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1346474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12033753 BCKDK branched chain keto acid dehydrogenase kinase gene DOID:0060041 autism spectrum disorder ISO RGD:69215 D RGD:9068941 20220825 MouseDO 12033753 BCKDK branched chain keto acid dehydrogenase kinase gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:69214 D RGD:7240710 20180130 OMIM 12033753 BCKDK branched chain keto acid dehydrogenase kinase gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:69214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:17576681|PMID:22956686|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 12033753 BCKDK branched chain keto acid dehydrogenase kinase gene DOID:1059 intellectual disability ISO RGD:69214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 12033753 BCKDK branched chain keto acid dehydrogenase kinase gene DOID:14228 oligospermia ISO RGD:2198 D RGD:9068941 20201015 RGD DNA:missense mutation:cds:G369E (rat) PMID:27472223|REF_RGD_ID:39131293 12033753 BCKDK branched chain keto acid dehydrogenase kinase gene DOID:1826 epilepsy ISO RGD:69214 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:26467025|PMID:28492532 12033753 BCKDK branched chain keto acid dehydrogenase kinase gene DOID:630 genetic disease ISO RGD:69214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12033753 BCKDK branched chain keto acid dehydrogenase kinase gene DOID:9269 maple syrup urine disease ISO RGD:69214 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease, mild variant PMID:25741868|PMID:35205278 12033785 KIF9 kinesin family member 9 gene DOID:630 genetic disease ISO RGD:1313687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033785 KIF9 kinesin family member 9 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1313687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12033785 KIF9 kinesin family member 9 gene DOID:9008051 Luscan-Lumish Syndrome ISO RGD:1313687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Luscan-Lumish syndrome PMID:28492532 12033839 RBM24 RNA binding motif protein 24 gene DOID:12930 dilated cardiomyopathy ISO RGD:1614519 D RGD:9068941 20221229 MouseDO 12033839 RBM24 RNA binding motif protein 24 gene DOID:630 genetic disease ISO RGD:1317276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033857 GGA2 golgi associated, gamma adaptin ear containing, ARF binding protein 2 gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1312455 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 12033857 GGA2 golgi associated, gamma adaptin ear containing, ARF binding protein 2 gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:1312455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:28492532 12033857 GGA2 golgi associated, gamma adaptin ear containing, ARF binding protein 2 gene DOID:0111493 combined oxidative phosphorylation deficiency 12 ISO RGD:1312455 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome PMID:25741868 12033857 GGA2 golgi associated, gamma adaptin ear containing, ARF binding protein 2 gene DOID:630 genetic disease ISO RGD:1312455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033893 ZNF737 zinc finger protein 737 gene DOID:630 genetic disease ISO RGD:1625854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033926 GLUD2 glutamate dehydrogenase 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12033926 GLUD2 glutamate dehydrogenase 2 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1352274 D RGD:7240710 20190315 OMIM 12033926 GLUD2 glutamate dehydrogenase 2 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1352274 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:19826450|PMID:25741868 12033926 GLUD2 glutamate dehydrogenase 2 gene DOID:12849 autistic disorder ISO RGD:1352274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12033926 GLUD2 glutamate dehydrogenase 2 gene DOID:630 genetic disease ISO RGD:1352274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033946 NKAPD1 NKAP domain containing 1 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1605379 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 12033946 NKAPD1 NKAP domain containing 1 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1605379 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 12033946 NKAPD1 NKAP domain containing 1 gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:1605379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:28492532 12033946 NKAPD1 NKAP domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1605379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12033946 NKAPD1 NKAP domain containing 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1605379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12033946 NKAPD1 NKAP domain containing 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12033946 NKAPD1 NKAP domain containing 1 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1605379 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 12033974 CD74 CD74 molecule gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12033974 CD74 CD74 molecule gene DOID:3908 lung non-small cell carcinoma ISO RGD:1350471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22919003 12033974 CD74 CD74 molecule gene DOID:630 genetic disease ISO RGD:1350471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033974 CD74 CD74 molecule gene DOID:9000918 Disease Progression ISO RGD:1350471 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34797429 12033974 CD74 CD74 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12033974 CD74 CD74 molecule gene DOID:9004590 Acute Liver Failure ISO RGD:1350471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16799971 12033974 CD74 CD74 molecule gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12033974 CD74 CD74 molecule gene DOID:9008939 Breast Neoplasms ISO RGD:1350471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19602265 12033988 TEX26 testis expressed 26 gene DOID:630 genetic disease ISO RGD:1603922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12033999 C10H10orf90 chromosome 10 C10orf90 homolog gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1313898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12033999 C10H10orf90 chromosome 10 C10orf90 homolog gene DOID:630 genetic disease ISO RGD:1313898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12034011 RAB3D RAB3D, member RAS oncogene family gene DOID:0050990 episodic ataxia type 2 ISO RGD:736647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12034011 RAB3D RAB3D, member RAS oncogene family gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:736647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12034011 RAB3D RAB3D, member RAS oncogene family gene DOID:0111254 glutaric acidemia I ISO RGD:736647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12034011 RAB3D RAB3D, member RAS oncogene family gene DOID:3413 alpha-mannosidosis ISO RGD:736647 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12034011 RAB3D RAB3D, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:736647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12034020 SYT17 synaptotagmin 17 gene DOID:630 genetic disease ISO RGD:734045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12034053 LOC100983684 small EDRK-rich factor 1 gene DOID:13938 amenorrhea ISO RGD:1350108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12034053 LOC100983684 small EDRK-rich factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12034067 RPL18A ribosomal protein L18a gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1345925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative PMID:28492532 12034067 RPL18A ribosomal protein L18a gene DOID:1574 alcohol use disorder ISO RGD:1302976 D RGD:9068941 20200609 RGD mRNA:decreased expression:parietal cortex PMID:11244494|REF_RGD_ID:11038708 12034067 RPL18A ribosomal protein L18a gene DOID:630 genetic disease ISO RGD:1345925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12034067 RPL18A ribosomal protein L18a gene DOID:9003214 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative ISO RGD:1345925 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type PMID:28492532 12034067 RPL18A ribosomal protein L18a gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1345925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12034077 EVPL envoplakin gene DOID:630 genetic disease ISO RGD:1314586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12034101 OSGIN2 oxidative stress induced growth inhibitor family member 2 gene DOID:630 genetic disease ISO RGD:1314879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12034101 OSGIN2 oxidative stress induced growth inhibitor family member 2 gene DOID:7400 Nijmegen breakage syndrome ISO RGD:1314879 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency PMID:28492532 12034120 CTSC cathepsin C gene DOID:1059 intellectual disability ISO RGD:736291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12034120 CTSC cathepsin C gene DOID:10763 hypertension ISO RGD:2445 D RGD:9068941 20200609 RGD PMID:657443|REF_RGD_ID:1599651 12034120 CTSC cathepsin C gene DOID:1474 aggressive periodontitis ISO RGD:736291 D RGD:7240710 20180130 OMIM 12034120 CTSC cathepsin C gene DOID:1474 aggressive periodontitis ISO RGD:736291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aggressive Periodontitis | ClinVar Annotator: match by term: Periodontitis, aggressive 1 PMID:10581027|PMID:10662808|PMID:11180012|PMID:14974080|PMID:15585850|PMID:18723326|PMID:19816003|PMID:23311634|PMID:24033266|PMID:24936511|PMID:25741868|PMID:28317349|PMID:28492532 12034120 CTSC cathepsin C gene DOID:2316 brain ischemia ISO RGD:2445 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:12843783|REF_RGD_ID:1599640 12034120 CTSC cathepsin C gene DOID:3042 allergic contact dermatitis ISO RGD:736291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 12034120 CTSC cathepsin C gene DOID:3388 periodontal disease ISO RGD:736291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10662807 12034120 CTSC cathepsin C gene DOID:3389 Papillon-Lefevre disease ISO RGD:736291 D RGD:7240710 20180130 OMIM 12034120 CTSC cathepsin C gene DOID:3389 Papillon-Lefevre disease ISO RGD:736291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Papillon-Lefevre Disease | ClinVar Annotator: match by term: Papillon-Lefèvre syndrome PMID:10581027|PMID:10593994|PMID:10662808|PMID:11106356|PMID:11180012|PMID:11180601|PMID:11886537|PMID:12112662|PMID:14974080|PMID:15585850|PMID:18723326|PMID:18809751|PMID:19816003|PMID:23108224|PMID:23311634|PMID:24033266|PMID:24936511|PMID:25741868|PMID:28242153|PMID:28317349|PMID:28492532|PMID:29410039|PMID:33586345 12034120 CTSC cathepsin C gene DOID:5419 schizophrenia ISO RGD:10421 D RGD:9068941 20220825 MouseDO OMIM:181500 12034120 CTSC cathepsin C gene DOID:630 genetic disease ISO RGD:736291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12034120 CTSC cathepsin C gene DOID:9000217 Stomach Neoplasms ISO RGD:736291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12034120 CTSC cathepsin C gene DOID:9000918 Disease Progression ISO RGD:736291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12034120 CTSC cathepsin C gene DOID:9001957 Keratosis Palmoplantaris with Periodontopathia and Onychogryposis ISO RGD:736291 D RGD:7240710 20180130 OMIM 12034120 CTSC cathepsin C gene DOID:9001957 Keratosis Palmoplantaris with Periodontopathia and Onychogryposis ISO RGD:736291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Haim-Munk syndrome PMID:10581027|PMID:10593994|PMID:10662807|PMID:10662808|PMID:11106356|PMID:11180012|PMID:11180601|PMID:11886537|PMID:11922261|PMID:12112662|PMID:14974080|PMID:15111626|PMID:15585850|PMID:15606524|PMID:15727652|PMID:16199547|PMID:17576681|PMID:17943190|PMID:18723326|PMID:18809751|PMID:1886537|PMID:19816003|PMID:23108224|PMID:23311634|PMID:23397598|PMID:24033266|PMID:24936511|PMID:25741868|PMID:26205983|PMID:26957212|PMID:27062382|PMID:28242153|PMID:28317349|PMID:28492532|PMID:29410039|PMID:29925593|PMID:30548430|PMID:30854815|PMID:31282082|PMID:31980526|PMID:34341640|PMID:9536098 12034120 CTSC cathepsin C gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2445 D RGD:9068941 20200609 RGD PMID:843913|REF_RGD_ID:1599653 12034120 CTSC cathepsin C gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2445 D RGD:9068941 20200609 RGD PMID:148980|REF_RGD_ID:1599652 12034120 CTSC cathepsin C gene DOID:9007102 Myocardial Ischemia ISO RGD:736291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12034120 CTSC cathepsin C gene DOID:9970 obesity ISO RGD:2445 D RGD:9068941 20200609 RGD PMID:3705543|REF_RGD_ID:1599645 12034151 RAD18 RAD18 E3 ubiquitin protein ligase gene DOID:2843 long QT syndrome ISO RGD:1315923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12034151 RAD18 RAD18 E3 ubiquitin protein ligase gene DOID:630 genetic disease ISO RGD:1315923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12034151 RAD18 RAD18 E3 ubiquitin protein ligase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12034151 RAD18 RAD18 E3 ubiquitin protein ligase gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1315923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12034168 DLG1 discs large MAGUK scaffold protein 1 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:731903 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 12034168 DLG1 discs large MAGUK scaffold protein 1 gene DOID:12849 autistic disorder ISO RGD:731903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12034168 DLG1 discs large MAGUK scaffold protein 1 gene DOID:14330 Parkinson's disease ISO RGD:2505 D RGD:9068941 20200609 RGD protein:altered localization, decreased expression:striatum:redistribution from synapse to vesicles PMID:15703272|REF_RGD_ID:2306834 12034168 DLG1 discs large MAGUK scaffold protein 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:731903 D RGD:9068941 20200609 RGD DNA:mutation:CDS:multiple nonsynonymous mutations PMID:14871824|REF_RGD_ID:2306813 12034168 DLG1 discs large MAGUK scaffold protein 1 gene DOID:5419 schizophrenia ISO RGD:731903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12034168 DLG1 discs large MAGUK scaffold protein 1 gene DOID:630 genetic disease ISO RGD:731903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12034168 DLG1 discs large MAGUK scaffold protein 1 gene DOID:674 cleft palate ISO RGD:731903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11238884 12034168 DLG1 discs large MAGUK scaffold protein 1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:731903 D RGD:9068941 20200609 RGD protein:decreased expression:cervical lesions:targetted by the HPV oncoprotein E6 for ubiquitin-mediated proteolysis PMID:15221964|REF_RGD_ID:2306812 12034256 ADPRM ADP-ribose/CDP-alcohol diphosphatase, manganese dependent gene DOID:630 genetic disease ISO RGD:1604325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12034269 MOSPD2 motile sperm domain containing 2 gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1350806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 12034269 MOSPD2 motile sperm domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1350806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12034269 MOSPD2 motile sperm domain containing 2 gene DOID:13636 Fanconi anemia ISO RGD:1350806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 12034269 MOSPD2 motile sperm domain containing 2 gene DOID:630 genetic disease ISO RGD:1350806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12034269 MOSPD2 motile sperm domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12034291 WSCD2 WSC domain containing 2 gene DOID:630 genetic disease ISO RGD:1605710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12034291 WSCD2 WSC domain containing 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1605710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12034311 TMEM181 transmembrane protein 181 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1350892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 12034311 TMEM181 transmembrane protein 181 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1350892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 12034311 TMEM181 transmembrane protein 181 gene DOID:630 genetic disease ISO RGD:1350892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12034361 STK16 serine/threonine kinase 16 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1342506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12034361 STK16 serine/threonine kinase 16 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1342506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12034361 STK16 serine/threonine kinase 16 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1342506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12034361 STK16 serine/threonine kinase 16 gene DOID:1148 polydactyly ISO RGD:1342506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 12034361 STK16 serine/threonine kinase 16 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1342506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12034361 STK16 serine/threonine kinase 16 gene DOID:630 genetic disease ISO RGD:1342506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12034361 STK16 serine/threonine kinase 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12034382 SLC25A37 solute carrier family 25 member 37 gene DOID:2355 anemia ISO RGD:1605395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22253756 12034382 SLC25A37 solute carrier family 25 member 37 gene DOID:630 genetic disease ISO RGD:1605395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12034382 SLC25A37 solute carrier family 25 member 37 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1605395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 12034390 SLC25A13 solute carrier family 25 member 13 gene DOID:0070340 classic citrullinemia ISO RGD:1323000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Citrullinemia 1 | ClinVar Annotator: match by term: Citrullinemia type I PMID:10369257|PMID:14680984|PMID:16199547|PMID:23022256|PMID:23053473|PMID:23067347|PMID:24069319|PMID:24586645|PMID:25216257|PMID:25741868|PMID:27405544|PMID:28492532|PMID:30887117|PMID:31180159|PMID:34704407|PMID:34800434|PMID:36599957 12034390 SLC25A13 solute carrier family 25 member 13 gene DOID:0070341 neonatal-onset type II citrullinemia ISO RGD:1323000 D RGD:7240710 20180130 OMIM 12034390 SLC25A13 solute carrier family 25 member 13 gene DOID:0070341 neonatal-onset type II citrullinemia ISO RGD:1323000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal intrahepatic cholestasis caused by citrin deficiency | ClinVar Annotator: match by term: Neonatal-onset citrullinemia type 2 | ClinVar Annotator: match by term: Neonatal-onset citrullinemia type II PMID:10369257|PMID:11153906|PMID:11281457|PMID:11343052|PMID:11343053|PMID:11793471|PMID:12424587|PMID:12512993|PMID:14680984|PMID:15050970|PMID:16059747|PMID:16199547|PMID:16449956|PMID:17576681|PMID:17880783|PMID:18367750|PMID:18392553|PMID:19036621|PMID:19470249|PMID:20301360|PMID:20927635|PMID:21134364|PMID:21424115|PMID:21507300|PMID:22710133|PMID:23022256|PMID:23053473|PMID:23067347|PMID:23430852|PMID:23701493|PMID:24069319|PMID:24161253|PMID:24327139|PMID:24586645|PMID:25110155|PMID:25216257|PMID:25741868|PMID:26852511|PMID:26858187|PMID:27347070|PMID:27405544|PMID:27577219|PMID:27578510|PMID:28492532|PMID:29651749|PMID:29659898|PMID:30887117|PMID:30904546|PMID:31180159|PMID:31450232|PMID:31845334|PMID:32962675|PMID:33497767|PMID:33763395|PMID:34006251|PMID:34704407|PMID:34800434|PMID:36599957|PMID:9536098 12034390 SLC25A13 solute carrier family 25 member 13 gene DOID:0070342 adult-onset type II citrullinemia ISO RGD:1323000 D RGD:7240710 20180130 OMIM 12034390 SLC25A13 solute carrier family 25 member 13 gene DOID:0070342 adult-onset type II citrullinemia ISO RGD:1323000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Adult-onset citrullinemia type 2 | ClinVar Annotator: match by term: Citrin deficiency | ClinVar Annotator: match by term: Late-onset citrullinemia PMID:10369257|PMID:11153906|PMID:11281457|PMID:11343052|PMID:11343053|PMID:11793471|PMID:12409267|PMID:12424587|PMID:12512993|PMID:14680984|PMID:15050970|PMID:16059747|PMID:16199547|PMID:16311094|PMID:16449956|PMID:17576681|PMID:17880783|PMID:18392553|PMID:18487280|PMID:19036621|PMID:19185551|PMID:19470249|PMID:20301360|PMID:20376801|PMID:20927635|PMID:21134364|PMID:21424115|PMID:21507300|PMID:21914561|PMID:22575253|PMID:22710133|PMID:23022256|PMID:23053473|PMID:23067347|PMID:23430852|PMID:23701493|PMID:24069319|PMID:24161253|PMID:24586645|PMID:25110155|PMID:25216257|PMID:25365849|PMID:25381944|PMID:25640679|PMID:25741868|PMID:26852511|PMID:26858187|PMID:27347070|PMID:27405544|PMID:27577219|PMID:27578510|PMID:27706244|PMID:27779681|PMID:28492532|PMID:29651749|PMID:29659898|PMID:30703226|PMID:30887117|PMID:30904546|PMID:31180159|PMID:31450232|PMID:31607264|PMID:31845334|PMID:31980526|PMID:32962675|PMID:33497767|PMID:33763395|PMID:34006251|PMID:34704407|PMID:34800434|PMID:36599957|PMID:9536098 12034390 SLC25A13 solute carrier family 25 member 13 gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1323000 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM PMID:21507300|PMID:23053473|PMID:24069319|PMID:25741868|PMID:28492532 12034390 SLC25A13 solute carrier family 25 member 13 gene DOID:11372 megacolon ISO RGD:1323000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12034390 SLC25A13 solute carrier family 25 member 13 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12034390 SLC25A13 solute carrier family 25 member 13 gene DOID:630 genetic disease ISO RGD:1323000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18367750|PMID:18392553|PMID:25741868|PMID:28492532|PMID:36599957 12034390 SLC25A13 solute carrier family 25 member 13 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12034390 SLC25A13 solute carrier family 25 member 13 gene DOID:9002589 Bone Fractures ISO RGD:1323000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22504420 12034390 SLC25A13 solute carrier family 25 member 13 gene DOID:9009138 Citrullinemia Type 2 ISO RGD:1323000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Citrullinemia type 2 | ClinVar Annotator: match by term: Citrullinemia type II PMID:10369257|PMID:11153906|PMID:11281457|PMID:11343052|PMID:11343053|PMID:11793471|PMID:12424587|PMID:12512993|PMID:14680984|PMID:15050970|PMID:16059747|PMID:16199547|PMID:16449956|PMID:17576681|PMID:17880783|PMID:18367750|PMID:18392553|PMID:19036621|PMID:19470249|PMID:20301360|PMID:21134364|PMID:21424115|PMID:21507300|PMID:22575253|PMID:22710133|PMID:23022256|PMID:23053473|PMID:23067347|PMID:23430852|PMID:24069319|PMID:24161253|PMID:24586645|PMID:25216257|PMID:25365849|PMID:25741868|PMID:26852511|PMID:27347070|PMID:27405544|PMID:27577219|PMID:27578510|PMID:28492532|PMID:29659898|PMID:30887117|PMID:30904546|PMID:31180159|PMID:31450232|PMID:33763395|PMID:34006251|PMID:34704407|PMID:34800434|PMID:36599957|PMID:9536098 12034390 SLC25A13 solute carrier family 25 member 13 gene DOID:9273 citrullinemia ISO RGD:1323000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinuria PMID:10369257|PMID:11153906|PMID:11343052|PMID:11793471|PMID:12512993|PMID:14680984|PMID:15050970|PMID:16199547|PMID:16449956|PMID:17576681|PMID:18367750|PMID:18392553|PMID:19036621|PMID:19185551|PMID:20301360|PMID:20376801|PMID:20927635|PMID:21424115|PMID:23053473|PMID:23701493|PMID:24069319|PMID:25110155|PMID:25741868|PMID:26858187|PMID:27405544|PMID:28492532|PMID:29659898|PMID:31845334|PMID:34006251|PMID:36599957|PMID:9536098 12034412 PTS 6-pyruvoyltetrahydropterin synthase gene DOID:0014667 disease of metabolism ISO RGD:68525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metabolic disease 12034412 PTS 6-pyruvoyltetrahydropterin synthase gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:68525 D RGD:7240710 20180130 OMIM 12034412 PTS 6-pyruvoyltetrahydropterin synthase gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:68525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A | ClinVar Annotator: match by term: PTS Deficiency PMID:10089284|PMID:10220141|PMID:10319579|PMID:10585341|PMID:10874306|PMID:11388593|PMID:11438997|PMID:11694255|PMID:11916314|PMID:16199547|PMID:16850690|PMID:16917893|PMID:17001642|PMID:17160954|PMID:17576681|PMID:18060820|PMID:18505119|PMID:19280650|PMID:19350512|PMID:19823873|PMID:19830588|PMID:20059486|PMID:21542064|PMID:21933604|PMID:22237589|PMID:23138986|PMID:23942198|PMID:25087612|PMID:25304915|PMID:25418970|PMID:25456745|PMID:25525159|PMID:25741868|PMID:25758715|PMID:26830550|PMID:27243974|PMID:27246466|PMID:27629047|PMID:28057123|PMID:28378820|PMID:28492532|PMID:28915855|PMID:29499199|PMID:29577258|PMID:29685341|PMID:30001213|PMID:30109838|PMID:30626930|PMID:30853107|PMID:30926181|PMID:31332730|PMID:32651154|PMID:32905092|PMID:3297709|PMID:33234470|PMID:33822819|PMID:35140743|PMID:7493990|PMID:7563095|PMID:7698774|PMID:8178819|PMID:8707300|PMID:9159737|PMID:9222757|PMID:9450907|PMID:9536098 12034412 PTS 6-pyruvoyltetrahydropterin synthase gene DOID:1059 intellectual disability ISO RGD:68525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12034412 PTS 6-pyruvoyltetrahydropterin synthase gene DOID:1826 epilepsy ISO RGD:68525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:17576681|PMID:28492532|PMID:9536098 12034412 PTS 6-pyruvoyltetrahydropterin synthase gene DOID:630 genetic disease ISO RGD:68525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11388593|PMID:16917893|PMID:17576681|PMID:18505119|PMID:22237589|PMID:23138986|PMID:25741868|PMID:27243974|PMID:28492532|PMID:29499199|PMID:29577258|PMID:32651154|PMID:33234470|PMID:9536098 12034412 PTS 6-pyruvoyltetrahydropterin synthase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:68525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12034412 PTS 6-pyruvoyltetrahydropterin synthase gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:68525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 12034412 PTS 6-pyruvoyltetrahydropterin synthase gene DOID:9008812 Hyperphenylalaninemia, BH4-Deficient, due to Partial PTS Deficiency ISO RGD:68525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency PMID:10220141|PMID:22237589|PMID:25741868|PMID:26830550|PMID:7493990|PMID:8178819 12034412 PTS 6-pyruvoyltetrahydropterin synthase gene DOID:9281 phenylketonuria ISO RGD:68525 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperphenylalaninemia, non-phenylketonuric PMID:10319579|PMID:11388593|PMID:11694255|PMID:19350512|PMID:21933604|PMID:22237589|PMID:25525159|PMID:25741868|PMID:28492532|PMID:7493990|PMID:8707300|PMID:9450907 12034422 USP13 ubiquitin specific peptidase 13 gene DOID:0111546 Currarino syndrome ISO RGD:1314436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12034422 USP13 ubiquitin specific peptidase 13 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1314436 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 12034422 USP13 ubiquitin specific peptidase 13 gene DOID:37 skin disease ISO RGD:1314436 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12034422 USP13 ubiquitin specific peptidase 13 gene DOID:630 genetic disease ISO RGD:1314436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12034422 USP13 ubiquitin specific peptidase 13 gene DOID:9007964 Arsenic Poisoning ISO RGD:1314436 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12034452 LSM14B LSM family member 14B gene DOID:630 genetic disease ISO RGD:1351489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12034480 HNRNPM heterogeneous nuclear ribonucleoprotein M gene DOID:0080199 colorectal carcinoma disease_progression ISO RGD:731710 D RGD:9068941 20200609 RGD protein:increased expression:colonic epithelium (human) PMID:24381081|REF_RGD_ID:10054273 12034480 HNRNPM heterogeneous nuclear ribonucleoprotein M gene DOID:0080490 mucolipidosis type IV ISO RGD:731710 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 12034480 HNRNPM heterogeneous nuclear ribonucleoprotein M gene DOID:127 leiomyoma ISO RGD:731710 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine myometrium (human) PMID:18566572|REF_RGD_ID:2301090 12034480 HNRNPM heterogeneous nuclear ribonucleoprotein M gene DOID:12849 autistic disorder ISO RGD:731710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12034480 HNRNPM heterogeneous nuclear ribonucleoprotein M gene DOID:2843 long QT syndrome ISO RGD:731710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12034480 HNRNPM heterogeneous nuclear ribonucleoprotein M gene DOID:630 genetic disease ISO RGD:731710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12034510 MARCHF4 membrane associated ring-CH-type finger 4 gene DOID:630 genetic disease ISO RGD:1353584 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12034510 MARCHF4 membrane associated ring-CH-type finger 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12034510 MARCHF4 membrane associated ring-CH-type finger 4 gene DOID:9255 frontotemporal dementia ISO RGD:1353584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:29476165 12034518 TRIM7 tripartite motif containing 7 gene DOID:0080600 COVID-19 ISO RGD:1316458 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12034518 TRIM7 tripartite motif containing 7 gene DOID:630 genetic disease ISO RGD:1316458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12034530 RNF138 ring finger protein 138 gene DOID:0080600 COVID-19 ISO RGD:1605080 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12034530 RNF138 ring finger protein 138 gene DOID:1059 intellectual disability ISO RGD:1605080 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12034530 RNF138 ring finger protein 138 gene DOID:630 genetic disease ISO RGD:1605080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12034544 SLF2 SMC5-SMC6 complex localization factor 2 gene DOID:630 genetic disease ISO RGD:1349080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12034544 SLF2 SMC5-SMC6 complex localization factor 2 gene DOID:9006377 Mosaic Variegated Aneuploidy Syndrome 5 ISO RGD:1349080 D RGD:7240710 20230125 OMIM 12034544 SLF2 SMC5-SMC6 complex localization factor 2 gene DOID:9006377 Mosaic Variegated Aneuploidy Syndrome 5 ISO RGD:1349080 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Atelis syndrome 1 PMID:36333305 12034578 GPLD1 glycosylphosphatidylinositol specific phospholipase D1 gene DOID:0060175 succinic semialdehyde dehydrogenase deficiency ISO RGD:1606585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency PMID:14635103|PMID:17438226|PMID:23430864|PMID:25246302|PMID:25741868|PMID:27104484|PMID:28492532|PMID:30091983|PMID:31267348|PMID:32402538|PMID:33203024|PMID:34882073 12034578 GPLD1 glycosylphosphatidylinositol specific phospholipase D1 gene DOID:1059 intellectual disability ISO RGD:1606585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12034578 GPLD1 glycosylphosphatidylinositol specific phospholipase D1 gene DOID:1826 epilepsy ISO RGD:1606585 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12034578 GPLD1 glycosylphosphatidylinositol specific phospholipase D1 gene DOID:630 genetic disease ISO RGD:1606585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30091983 12034615 KPNA7 karyopherin subunit alpha 7 gene DOID:1059 intellectual disability ISO RGD:2306472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild PMID:24088041|PMID:26633545|PMID:28492532 12034615 KPNA7 karyopherin subunit alpha 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2306472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12034615 KPNA7 karyopherin subunit alpha 7 gene DOID:630 genetic disease ISO RGD:2306472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12034615 KPNA7 karyopherin subunit alpha 7 gene DOID:9005201 Oocyte/Zygote/Embryo Maturation Arrest 17 ISO RGD:2306472 D RGD:7240710 20230505 OMIM 12034615 KPNA7 karyopherin subunit alpha 7 gene DOID:9005201 Oocyte/Zygote/Embryo Maturation Arrest 17 ISO RGD:2306472 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 17 PMID:28492532|PMID:36647821 12034628 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1344203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27694961 12034628 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:0060041 autism spectrum disorder ISO RGD:1344203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12034628 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1344203 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 12034628 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:0111988 immunodeficiency 12 ISO RGD:1344203 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 12034628 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:1059 intellectual disability ISO RGD:1344203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:27694961|PMID:28492532|PMID:32117442 12034628 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:10763 hypertension ISO RGD:1344203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18524855|PMID:23348737 12034628 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:10892 hypospadias ISO RGD:1551161 D RGD:9068941 20230302 RGD protein:decreased expression:urethra PMID:32413360|REF_RGD_ID:156431051 12034628 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:11193 syndactyly ISO RGD:1344203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27694961 12034628 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:12930 dilated cardiomyopathy ISO RGD:1344203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28701297 12034628 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:1826 epilepsy ISO RGD:1344203 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure 12034628 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:289 endometriosis ISO RGD:1344203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12034628 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:630 genetic disease ISO RGD:1344203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12034628 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:674 cleft palate ISO RGD:1344203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27694961 12034628 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:9001678 Periventricular Nodular Heterotopia 7 ISO RGD:1344203 D RGD:7240710 20190315 OMIM 12034628 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:9001678 Periventricular Nodular Heterotopia 7 ISO RGD:1344203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia 7 | ClinVar Annotator: match by term: Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay PMID:25741868|PMID:27694961|PMID:28492532|PMID:28515470|PMID:32117442|PMID:32238909 12034628 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:9007096 Stroke ISO RGD:735047 D RGD:9068941 20200609 RGD PMID:22417925|REF_RGD_ID:6893327 12034628 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:9008582 Developmental Disease ISO RGD:1344203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12034663 EMP2 epithelial membrane protein 2 gene DOID:0080386 nephrotic syndrome type 10 ISO RGD:1344065 D RGD:7240710 20180130 OMIM 12034663 EMP2 epithelial membrane protein 2 gene DOID:0080386 nephrotic syndrome type 10 ISO RGD:1344065 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 10 PMID:24814193|PMID:25741868|PMID:28492532 12034663 EMP2 epithelial membrane protein 2 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1344065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 12034663 EMP2 epithelial membrane protein 2 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1344065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 12034663 EMP2 epithelial membrane protein 2 gene DOID:3891 placental insufficiency ISO RGD:1552846 D RGD:9068941 20220825 MouseDO 12034663 EMP2 epithelial membrane protein 2 gene DOID:5812 MHC class II deficiency ISO RGD:1344065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:26271388|PMID:28492532|PMID:8402893|PMID:9099848 12034663 EMP2 epithelial membrane protein 2 gene DOID:630 genetic disease ISO RGD:1344065 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12034675 CENPVL2 centromere protein V like 2 gene DOID:12849 autistic disorder ISO RGD:6482617 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12034676 IFFO1 intermediate filament family orphan 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1603680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12034676 IFFO1 intermediate filament family orphan 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1603680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12034676 IFFO1 intermediate filament family orphan 1 gene DOID:0111621 Temtamy syndrome ISO RGD:1603680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12034676 IFFO1 intermediate filament family orphan 1 gene DOID:630 genetic disease ISO RGD:1603680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12034676 IFFO1 intermediate filament family orphan 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1603680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12034710 SLX9 SLX9 ribosome biogenesis factor gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1322617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12034710 SLX9 SLX9 ribosome biogenesis factor gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1322617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 12034710 SLX9 SLX9 ribosome biogenesis factor gene DOID:0110266 cataract 9 multiple types ISO RGD:1322617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12034710 SLX9 SLX9 ribosome biogenesis factor gene DOID:12849 autistic disorder ISO RGD:1322617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12034710 SLX9 SLX9 ribosome biogenesis factor gene DOID:630 genetic disease ISO RGD:1322617 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12034710 SLX9 SLX9 ribosome biogenesis factor gene DOID:891 progressive myoclonus epilepsy ISO RGD:1322617 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12034710 SLX9 SLX9 ribosome biogenesis factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12034710 SLX9 SLX9 ribosome biogenesis factor gene DOID:9263 homocystinuria ISO RGD:1322617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12034710 SLX9 SLX9 ribosome biogenesis factor gene DOID:9562 primary ciliary dyskinesia ISO RGD:1322617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12034718 CCL19 C-C motif chemokine ligand 19 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1321181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12034718 CCL19 C-C motif chemokine ligand 19 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1321181 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12034718 CCL19 C-C motif chemokine ligand 19 gene DOID:0080942 anauxetic dysplasia ISO RGD:1321181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12034718 CCL19 C-C motif chemokine ligand 19 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1321181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12034718 CCL19 C-C motif chemokine ligand 19 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1321181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12034718 CCL19 C-C motif chemokine ligand 19 gene DOID:1205 allergic disease ISO RGD:1321181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12034718 CCL19 C-C motif chemokine ligand 19 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1321181 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:12626344|REF_RGD_ID:5130912 12034718 CCL19 C-C motif chemokine ligand 19 gene DOID:13564 aspergillosis ISO RGD:1321182 D RGD:9068941 20200609 RGD associated with Neutropenia;mRNA:increased expression:lung PMID:19783686|REF_RGD_ID:5130908 12034718 CCL19 C-C motif chemokine ligand 19 gene DOID:2841 asthma ISO RGD:1321181 D RGD:9068941 20200609 RGD protein:increased expression:bronchus submucosa, mast cell PMID:16959919|REF_RGD_ID:5130911 12034718 CCL19 C-C motif chemokine ligand 19 gene DOID:2957 pulmonary tuberculosis ISO RGD:1321182 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19933855|REF_RGD_ID:5130906 12034718 CCL19 C-C motif chemokine ligand 19 gene DOID:3042 allergic contact dermatitis ISO RGD:1321181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17597826 12034718 CCL19 C-C motif chemokine ligand 19 gene DOID:3770 pulmonary fibrosis ISO RGD:1321181 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17717200|REF_RGD_ID:5130910 12034718 CCL19 C-C motif chemokine ligand 19 gene DOID:4483 rhinitis ISO RGD:1321182 D RGD:9068941 20200609 RGD PMID:17947663|REF_RGD_ID:5130909 12034718 CCL19 C-C motif chemokine ligand 19 gene DOID:552 pneumonia ISO RGD:1321181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12034718 CCL19 C-C motif chemokine ligand 19 gene DOID:630 genetic disease ISO RGD:1321181 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12034718 CCL19 C-C motif chemokine ligand 19 gene DOID:874 bacterial pneumonia ISO RGD:1321182 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:20176793|REF_RGD_ID:5130918 12034718 CCL19 C-C motif chemokine ligand 19 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1321181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12034718 CCL19 C-C motif chemokine ligand 19 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12034718 CCL19 C-C motif chemokine ligand 19 gene DOID:9870 galactosemia ISO RGD:1321181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12034726 UBL7 ubiquitin like 7 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12034726 UBL7 ubiquitin like 7 gene DOID:2717 Bloom syndrome ISO RGD:1602843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12034726 UBL7 ubiquitin like 7 gene DOID:5419 schizophrenia ISO RGD:1602843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12034726 UBL7 ubiquitin like 7 gene DOID:630 genetic disease ISO RGD:1602843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12034726 UBL7 ubiquitin like 7 gene DOID:9256 colorectal cancer ISO RGD:1602843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12034749 PIP4K2C phosphatidylinositol-5-phosphate 4-kinase type 2 gamma gene DOID:607 paraplegia ISO RGD:733243 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12034749 PIP4K2C phosphatidylinositol-5-phosphate 4-kinase type 2 gamma gene DOID:630 genetic disease ISO RGD:733243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12034749 PIP4K2C phosphatidylinositol-5-phosphate 4-kinase type 2 gamma gene DOID:6846 familial melanoma ISO RGD:733243 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 12034767 BLID BH3-like motif containing, cell death inducer gene DOID:5419 schizophrenia ISO RGD:1606631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12034767 BLID BH3-like motif containing, cell death inducer gene DOID:630 genetic disease ISO RGD:1606631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12034767 BLID BH3-like motif containing, cell death inducer gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12034767 BLID BH3-like motif containing, cell death inducer gene DOID:9007661 Dwarfism ISO RGD:1606631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12034773 CIMIP2C ciliary microtubule inner protein 2C gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:2298820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12034789 PHYHD1 phytanoyl-CoA dioxygenase domain containing 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12034789 PHYHD1 phytanoyl-CoA dioxygenase domain containing 1 gene DOID:630 genetic disease ISO RGD:1321250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12034823 PIK3R5 phosphoinositide-3-kinase regulatory subunit 5 gene DOID:0050952 spastic ataxia ISO RGD:1346928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 12034823 PIK3R5 phosphoinositide-3-kinase regulatory subunit 5 gene DOID:0060557 ataxia with oculomotor apraxia type 3 ISO RGD:1346928 D RGD:7240710 20180130 OMIM 12034823 PIK3R5 phosphoinositide-3-kinase regulatory subunit 5 gene DOID:0060557 ataxia with oculomotor apraxia type 3 ISO RGD:1346928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3 PMID:22065524|PMID:25741868|PMID:28492532|PMID:33116287 12034823 PIK3R5 phosphoinositide-3-kinase regulatory subunit 5 gene DOID:219 colon cancer ISO RGD:1346928 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:15123805|REF_RGD_ID:13432047 12034823 PIK3R5 phosphoinositide-3-kinase regulatory subunit 5 gene DOID:630 genetic disease ISO RGD:1346928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12034848 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:68993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 12034848 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:0080325 tuberous sclerosis 2 ISO RGD:68993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12034848 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:68993 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12034848 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:11446 sciatic neuropathy ISO RGD:68943 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal root ganglion PMID:22972512|REF_RGD_ID:15042903 12034848 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:12241 beta thalassemia ISO RGD:68993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31542421 12034848 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:12849 autistic disorder ISO RGD:68993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16754686 12034848 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:1825 childhood absence epilepsy ISO RGD:68993 D RGD:8554872 20221101 ClinVar ClinVar Annotator: match by term: CACNA1H-related disorder PMID:28492532 12034848 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:1826 epilepsy ISO RGD:68993 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12034848 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:1827 idiopathic generalized epilepsy ISO RGD:68993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, juvenile myoclonic, susceptibility to, 10 | ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:12891677|PMID:14729682|PMID:15048902|PMID:15852375|PMID:15888660|PMID:16199547|PMID:16529636|PMID:16754686|PMID:17576681|PMID:17696120|PMID:21099341|PMID:23757202|PMID:24277868|PMID:24972929|PMID:25640679|PMID:25741868|PMID:25773295|PMID:25907736|PMID:26467025|PMID:26587300|PMID:26706850|PMID:27066544|PMID:27148582|PMID:27331657|PMID:27729216|PMID:28166811|PMID:28488083|PMID:28492532|PMID:28842445|PMID:30860130|PMID:31070086|PMID:31130284|PMID:31139143|PMID:31651342|PMID:32227660|PMID:33083721|PMID:9536098 12034848 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:2234 focal epilepsy ISO RGD:68993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal epilepsy PMID:25741868 12034848 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:3007 breast ductal carcinoma ISO RGD:68993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma PMID:26467025|PMID:27148582|PMID:28492532 12034848 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:446 primary hyperaldosteronism ISO RGD:68993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperaldosteronism | ClinVar Annotator: match by term: Primary aldosteronism PMID:25741868|PMID:25907736|PMID:28492532 12034848 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:574 peripheral nervous system disease ISO RGD:68993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30552955 12034848 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:630 genetic disease ISO RGD:68993 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12034848 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:9001945 Childhood Absence Epilepsy 6 ISO RGD:68993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 6 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 6 PMID:12891677|PMID:14729682|PMID:15048902|PMID:15852375|PMID:15888660|PMID:16199547|PMID:16529636|PMID:16754686|PMID:17576681|PMID:17696120|PMID:21099341|PMID:24277868|PMID:25741868|PMID:26467025|PMID:26539891|PMID:26587300|PMID:27331657|PMID:28488083|PMID:28492532|PMID:30860130|PMID:31130284|PMID:31651342|PMID:32227660|PMID:33083721|PMID:9536098 12034848 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:9001945 Childhood Absence Epilepsy 6 susceptibility ISO RGD:68993 D RGD:7240710 20230510 OMIM 12034848 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:9002211 Hyperalgesia ISO RGD:68993 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:19577366|PMID:30552955|PMID:34286406 12034848 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:9003950 Familial Hyperaldosteronism, Type IV ISO RGD:68993 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperaldosteronism, familial, type IV PMID:17696120|PMID:25741868|PMID:25907736|PMID:26467025|PMID:27331657|PMID:27729216|PMID:28492532 12034848 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:9003950 Familial Hyperaldosteronism, Type IV susceptibility ISO RGD:68993 D RGD:7240710 20230510 OMIM 12034848 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:68993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30552955 12034903 NR2F2 nuclear receptor subfamily 2 group F member 2 gene DOID:0080943 46,XX sex reversal 5 ISO RGD:735361 D RGD:7240710 20200701 OMIM 12034903 NR2F2 nuclear receptor subfamily 2 group F member 2 gene DOID:0080943 46,XX sex reversal 5 ISO RGD:735361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,xx sex reversal 5 PMID:25741868|PMID:27363585|PMID:29478779 12034903 NR2F2 nuclear receptor subfamily 2 group F member 2 gene DOID:10763 hypertension ISO RGD:69305 D RGD:9068941 20200609 RGD PMID:25687237|REF_RGD_ID:10401852 12034903 NR2F2 nuclear receptor subfamily 2 group F member 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:735362 D RGD:9068941 20220825 MouseDO 12034903 NR2F2 nuclear receptor subfamily 2 group F member 2 gene DOID:289 endometriosis ISO RGD:735361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 12034903 NR2F2 nuclear receptor subfamily 2 group F member 2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:735362 D RGD:9068941 20220825 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 12034903 NR2F2 nuclear receptor subfamily 2 group F member 2 gene DOID:630 genetic disease ISO RGD:735361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:29222010|PMID:32719394 12034903 NR2F2 nuclear receptor subfamily 2 group F member 2 gene DOID:9002809 Congenital Heart Defects, Multiple Types, 4 ISO RGD:735361 D RGD:7240710 20180130 OMIM 12034903 NR2F2 nuclear receptor subfamily 2 group F member 2 gene DOID:9002809 Congenital Heart Defects, Multiple Types, 4 ISO RGD:735361 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 4 PMID:10215630|PMID:24702954|PMID:25741868|PMID:27363585|PMID:28492532|PMID:29222010|PMID:29478779|PMID:29570242|PMID:29663647 12034903 NR2F2 nuclear receptor subfamily 2 group F member 2 gene DOID:9003735 Splenic Hypoplasia ISO RGD:735361 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Asplenia PMID:24702954|PMID:25741868 12034903 NR2F2 nuclear receptor subfamily 2 group F member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 12034903 NR2F2 nuclear receptor subfamily 2 group F member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12034903 NR2F2 nuclear receptor subfamily 2 group F member 2 gene DOID:9007456 Female Infertility ISO RGD:735361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17590085 12034903 NR2F2 nuclear receptor subfamily 2 group F member 2 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:735361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17436238 12034913 SNAPIN SNAP associated protein gene DOID:0080600 COVID-19 ISO RGD:1351269 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12034913 SNAPIN SNAP associated protein gene DOID:0111940 immunodeficiency 42 ISO RGD:1351269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12034913 SNAPIN SNAP associated protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1351269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12034913 SNAPIN SNAP associated protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1351269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12034913 SNAPIN SNAP associated protein gene DOID:1540 parathyroid carcinoma ISO RGD:1351269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12034913 SNAPIN SNAP associated protein gene DOID:5812 MHC class II deficiency ISO RGD:1351269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12034913 SNAPIN SNAP associated protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12034921 FAM181A family with sequence similarity 181 member A gene DOID:0080054 achondrogenesis type IA ISO RGD:1319141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12034921 FAM181A family with sequence similarity 181 member A gene DOID:0081063 DICER1 syndrome ISO RGD:1319141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 12034921 FAM181A family with sequence similarity 181 member A gene DOID:630 genetic disease ISO RGD:1319141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12034939 ASGR1 asialoglycoprotein receptor 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:737103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12034939 ASGR1 asialoglycoprotein receptor 1 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:737103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 12034939 ASGR1 asialoglycoprotein receptor 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:737103 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12034939 ASGR1 asialoglycoprotein receptor 1 gene DOID:12177 common variable immunodeficiency ISO RGD:737103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12034939 ASGR1 asialoglycoprotein receptor 1 gene DOID:2729 dyskeratosis congenita ISO RGD:737103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12034939 ASGR1 asialoglycoprotein receptor 1 gene DOID:630 genetic disease ISO RGD:737103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12034958 CUL9 cullin 9 gene DOID:0050444 infantile Refsum disease ISO RGD:1604392 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12034958 CUL9 cullin 9 gene DOID:630 genetic disease ISO RGD:1604392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12034958 CUL9 cullin 9 gene DOID:905 Zellweger syndrome ISO RGD:1604392 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12035008 HEPN1 hepatocellular carcinoma, down-regulated 1 gene DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts ISO RGD:2298739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 12035008 HEPN1 hepatocellular carcinoma, down-regulated 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:2298739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12035008 HEPN1 hepatocellular carcinoma, down-regulated 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:2298739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12035008 HEPN1 hepatocellular carcinoma, down-regulated 1 gene DOID:5419 schizophrenia ISO RGD:2298739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12035008 HEPN1 hepatocellular carcinoma, down-regulated 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:2298739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12035008 HEPN1 hepatocellular carcinoma, down-regulated 1 gene DOID:9007661 Dwarfism ISO RGD:2298739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12035013 SLC9A2 solute carrier family 9 member A2 gene DOID:0080685 aortic dissection ISO RGD:730959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ascending aortic dissection PMID:34409081 12035013 SLC9A2 solute carrier family 9 member A2 gene DOID:630 genetic disease ISO RGD:730959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12035013 SLC9A2 solute carrier family 9 member A2 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:730959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia 12035013 SLC9A2 solute carrier family 9 member A2 gene DOID:9000197 Edema ISO RGD:730959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20553904 12035029 BABAM1 BRISC and BRCA1 A complex member 1 gene DOID:630 genetic disease ISO RGD:1602893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12035029 BABAM1 BRISC and BRCA1 A complex member 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1602893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20852633 12035057 PPP6C protein phosphatase 6 catalytic subunit gene DOID:1909 melanoma ISO RGD:734407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842228 12035057 PPP6C protein phosphatase 6 catalytic subunit gene DOID:2513 basal cell carcinoma ISO RGD:734407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 12035057 PPP6C protein phosphatase 6 catalytic subunit gene DOID:3907 lung squamous cell carcinoma ISO RGD:734407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:26619011 12035057 PPP6C protein phosphatase 6 catalytic subunit gene DOID:630 genetic disease ISO RGD:734407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12035057 PPP6C protein phosphatase 6 catalytic subunit gene DOID:8923 skin melanoma ISO RGD:734407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:26619011 12035068 APCDD1 APC down-regulated 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1351282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12035068 APCDD1 APC down-regulated 1 gene DOID:0110698 hypotrichosis 1 ISO RGD:1351282 D RGD:7240710 20180130 OMIM 12035068 APCDD1 APC down-regulated 1 gene DOID:0110698 hypotrichosis 1 ISO RGD:1351282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotrichosis 1 PMID:10878665|PMID:20393562|PMID:22512811 12035068 APCDD1 APC down-regulated 1 gene DOID:1059 intellectual disability ISO RGD:1351282 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12035068 APCDD1 APC down-regulated 1 gene DOID:543 dystonia ISO RGD:1351282 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 12035068 APCDD1 APC down-regulated 1 gene DOID:630 genetic disease ISO RGD:1351282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12035068 APCDD1 APC down-regulated 1 gene DOID:9970 obesity ISO RGD:1351282 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28242765 12035077 APOA4 apolipoprotein A4 gene DOID:0060017 CD3epsilon deficiency ISO RGD:737553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12035077 APOA4 apolipoprotein A4 gene DOID:0060180 colitis ISO RGD:737553 D RGD:9068941 20200609 RGD human protein in mouse model PMID:15254593|REF_RGD_ID:5685667 12035077 APOA4 apolipoprotein A4 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:737553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12035077 APOA4 apolipoprotein A4 gene DOID:0080690 RASopathy ISO RGD:737553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12035077 APOA4 apolipoprotein A4 gene DOID:0080958 primary hypoalphalipoproteinemia 2 ISO RGD:737553 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Apolipoprotein A-I deficiency PMID:2506176|PMID:6800349 12035077 APOA4 apolipoprotein A4 gene DOID:0081267 graft-versus-host disease ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:blood serum (human) PMID:19379511|REF_RGD_ID:5685691 12035077 APOA4 apolipoprotein A4 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:737553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12035077 APOA4 apolipoprotein A4 gene DOID:0111123 nephronophthisis 15 ISO RGD:737553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 12035077 APOA4 apolipoprotein A4 gene DOID:0111971 immunodeficiency 18 ISO RGD:737553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12035077 APOA4 apolipoprotein A4 gene DOID:0111972 immunodeficiency 19 ISO RGD:737553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12035077 APOA4 apolipoprotein A4 gene DOID:0111973 immunodeficiency 17 ISO RGD:737553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12035077 APOA4 apolipoprotein A4 gene DOID:1059 intellectual disability ISO RGD:737553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12035077 APOA4 apolipoprotein A4 gene DOID:10652 Alzheimer's disease ISO RGD:734420 D RGD:9068941 20200609 RGD PMID:21356380|REF_RGD_ID:5685638 12035077 APOA4 apolipoprotein A4 gene DOID:10652 Alzheimer's disease ISO RGD:737553 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q360H (human) PMID:9272683|REF_RGD_ID:5685681 12035077 APOA4 apolipoprotein A4 gene DOID:10652 Alzheimer's disease ISO RGD:737553 D RGD:9068941 20200609 RGD DNA:snp, haplotype:cds:p.S147N (rs5104) (human) PMID:16013913|REF_RGD_ID:5685661 12035077 APOA4 apolipoprotein A4 gene DOID:10652 Alzheimer's disease no_association ISO RGD:737553 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q360H (human) PMID:10559562|REF_RGD_ID:5685682 12035077 APOA4 apolipoprotein A4 gene DOID:12842 Guillain-Barre syndrome ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:18343991|REF_RGD_ID:5685658 12035077 APOA4 apolipoprotein A4 gene DOID:12858 Huntington's disease ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:21297956|REF_RGD_ID:5147768 12035077 APOA4 apolipoprotein A4 gene DOID:1287 cardiovascular system disease ISO RGD:737553 D RGD:9068941 20200609 RGD protein:decreased expression:blood plasma (human) PMID:21569504|REF_RGD_ID:5685637 12035077 APOA4 apolipoprotein A4 gene DOID:1389 polyneuropathy ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:19589605|REF_RGD_ID:5685648 12035077 APOA4 apolipoprotein A4 gene DOID:1470 major depressive disorder ISO RGD:2132 D RGD:9068941 20200609 RGD protein:increased expression:blood serum (rat) PMID:20580919|REF_RGD_ID:5128563 12035077 APOA4 apolipoprotein A4 gene DOID:1686 glaucoma ISO RGD:737553 D RGD:9068941 20200609 RGD Primary Congenital Glaucoma; protein:increased expression:aqueous humor (human) PMID:21078314|REF_RGD_ID:5685641 12035077 APOA4 apolipoprotein A4 gene DOID:1936 atherosclerosis ISO RGD:737553 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15822908 12035077 APOA4 apolipoprotein A4 gene DOID:2355 anemia ISO RGD:734420 D RGD:9068941 20200609 RGD associated with Inflammation; protein:increased expression:blood plasma (mouse) PMID:22146476|REF_RGD_ID:5685688 12035077 APOA4 apolipoprotein A4 gene DOID:2378 relapsing-remitting multiple sclerosis onset ISO RGD:737553 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid (human) PMID:19383442|REF_RGD_ID:5685649 12035077 APOA4 apolipoprotein A4 gene DOID:5327 retinal detachment ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor (human) PMID:19081814|REF_RGD_ID:5685692 12035077 APOA4 apolipoprotein A4 gene DOID:5419 schizophrenia ISO RGD:737553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25821032 12035077 APOA4 apolipoprotein A4 gene DOID:5419 schizophrenia ISO RGD:737553 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid (human) PMID:12836058|REF_RGD_ID:5685679 12035077 APOA4 apolipoprotein A4 gene DOID:574 peripheral nervous system disease ISO RGD:734420 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (mouse) PMID:2050689|REF_RGD_ID:5685702 12035077 APOA4 apolipoprotein A4 gene DOID:5844 myocardial infarction no_association ISO RGD:737553 D RGD:9068941 20200609 RGD DNA:mutation:intron:IVS2 (human) PMID:10428310|REF_RGD_ID:1578442 12035077 APOA4 apolipoprotein A4 gene DOID:5844 myocardial infarction susceptibility ISO RGD:737553 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.Q360H (human) PMID:7958503|REF_RGD_ID:5685678 12035077 APOA4 apolipoprotein A4 gene DOID:630 genetic disease ISO RGD:737553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12035077 APOA4 apolipoprotein A4 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737553 D RGD:9068941 20220908 RGD associated with hepatitis B; PMID:31211449|REF_RGD_ID:153350082 12035077 APOA4 apolipoprotein A4 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:18061280|REF_RGD_ID:5685659 12035077 APOA4 apolipoprotein A4 gene DOID:7148 rheumatoid arthritis ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:blood serum (human) PMID:20367977|REF_RGD_ID:5685646 12035077 APOA4 apolipoprotein A4 gene DOID:784 chronic kidney disease disease_progression ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:blood plasma (human) PMID:21569504|REF_RGD_ID:5685637 12035077 APOA4 apolipoprotein A4 gene DOID:8577 ulcerative colitis ISO RGD:737553 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 12035077 APOA4 apolipoprotein A4 gene DOID:8577 ulcerative colitis severity ISO RGD:737553 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q360H (human) PMID:17206692|REF_RGD_ID:5685660 12035077 APOA4 apolipoprotein A4 gene DOID:8778 Crohn's disease severity ISO RGD:737553 D RGD:9068941 20200609 RGD protein:decreased expression:blood plasma (human) PMID:17206692|REF_RGD_ID:5685660 12035077 APOA4 apolipoprotein A4 gene DOID:8805 intermediate coronary syndrome ISO RGD:737553 D RGD:9068941 20200609 RGD protein:decreased expression:blood plasma (human) PMID:20367977|REF_RGD_ID:5685646 12035077 APOA4 apolipoprotein A4 gene DOID:8947 diabetic retinopathy ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor (human) PMID:19081814|REF_RGD_ID:5685692 12035077 APOA4 apolipoprotein A4 gene DOID:9000528 Coronary Disease no_association ISO RGD:737553 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.T347S (human) PMID:9013087|REF_RGD_ID:5685683 12035077 APOA4 apolipoprotein A4 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:737553 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.T347S (human) PMID:12676816|REF_RGD_ID:1578411 12035077 APOA4 apolipoprotein A4 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2132 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve (rat) PMID:2120218|REF_RGD_ID:2311210 12035077 APOA4 apolipoprotein A4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12035077 APOA4 apolipoprotein A4 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:737553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 12035077 APOA4 apolipoprotein A4 gene DOID:9002457 Experimental Arthritis ISO RGD:2132 D RGD:9068941 20200609 RGD protein:decreased expression:blood serum (rat) PMID:10892728|REF_RGD_ID:5685694 12035077 APOA4 apolipoprotein A4 gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:737553 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas, carcinoma (human) PMID:16815451|REF_RGD_ID:5685662 12035077 APOA4 apolipoprotein A4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:737553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12035077 APOA4 apolipoprotein A4 gene DOID:9005372 Inflammation ISO RGD:2132 D RGD:9068941 20200609 RGD protein:decreased expression:blood serum (rat) PMID:10892728|REF_RGD_ID:5685694 12035077 APOA4 apolipoprotein A4 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:737553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16030523 12035077 APOA4 apolipoprotein A4 gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:16372267|REF_RGD_ID:5685665 12035077 APOA4 apolipoprotein A4 gene DOID:9006190 Chronic Pancreatitis ISO RGD:737553 D RGD:9068941 20200609 RGD protein:decreased expression:blood plasma (human) PMID:11555832|REF_RGD_ID:5685680 12035077 APOA4 apolipoprotein A4 gene DOID:9006599 Hypertriglyceridemia ISO RGD:737553 D RGD:9068941 20200609 RGD human gene in mouse model PMID:2167514|REF_RGD_ID:5685672 12035077 APOA4 apolipoprotein A4 gene DOID:9007571 Hyperlipoproteinemias ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:blood plasma (human) PMID:226830|REF_RGD_ID:5685673 12035077 APOA4 apolipoprotein A4 gene DOID:9007661 Dwarfism ISO RGD:737553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12035077 APOA4 apolipoprotein A4 gene DOID:9008103 Seasonal Allergic Rhinitis resistance ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:blood serum (human) PMID:20810159|REF_RGD_ID:5685642 12035077 APOA4 apolipoprotein A4 gene DOID:9008261 Chemically-Induced Disorders ISO RGD:737553 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 12035077 APOA4 apolipoprotein A4 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor (human) PMID:19081814|REF_RGD_ID:5685692 12035084 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:737617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12035084 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:737617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12035084 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12035084 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:737617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12035084 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:737617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12035084 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:737617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12035084 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:737617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12035084 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:10652 Alzheimer's disease ISO RGD:737617 D RGD:9068941 20200609 RGD PMID:14746899|REF_RGD_ID:1642360 12035084 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:12849 autistic disorder ISO RGD:737617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12035084 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:1307 dementia ISO RGD:737617 D RGD:9068941 20200609 RGD associated with Parkinson Disease PMID:14746899|REF_RGD_ID:1642360 12035084 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:630 genetic disease ISO RGD:737617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12035084 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:737617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12035084 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:9007993 Dehydration ISO RGD:3617 D RGD:9068941 20211112 RGD PMID:17412804|REF_RGD_ID:1642352 12035084 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:9970 obesity ISO RGD:3617 D RGD:9068941 20211112 RGD PMID:15012590|REF_RGD_ID:1642350 12035084 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:9970 obesity ISO RGD:737618 D RGD:9068941 20200609 RGD protein:increased expression:brainstem PMID:11680901|REF_RGD_ID:1642351 12035096 LOC100994024 olfactory receptor 4B1 gene DOID:1059 intellectual disability ISO RGD:1352354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12035096 LOC100994024 olfactory receptor 4B1 gene DOID:630 genetic disease ISO RGD:1352354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12035171 TMEM68 transmembrane protein 68 gene DOID:630 genetic disease ISO RGD:1603902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12035196 SLC5A11 solute carrier family 5 member 11 gene DOID:630 genetic disease ISO RGD:1347645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12035215 KCNJ5-AS1 KCNJ5 antisense RNA 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1606680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12035215 KCNJ5-AS1 KCNJ5 antisense RNA 1 gene DOID:5419 schizophrenia ISO RGD:1606680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12035215 KCNJ5-AS1 KCNJ5 antisense RNA 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12035215 KCNJ5-AS1 KCNJ5 antisense RNA 1 gene DOID:9007661 Dwarfism ISO RGD:1606680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12035227 CUX1 cut like homeobox 1 gene DOID:10534 stomach cancer exacerbates ISO RGD:1319831 D RGD:9068941 20220609 RGD protein:decreased activity:stomach (human) PMID:23255599|REF_RGD_ID:152985542 12035227 CUX1 cut like homeobox 1 gene DOID:1059 intellectual disability ISO RGD:1319831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12035227 CUX1 cut like homeobox 1 gene DOID:1798 pancreatic endocrine carcinoma exacerbates ISO RGD:1319831 D RGD:9068941 20220728 RGD protein:increased expression:pancreas (human) PMID:32707646|REF_RGD_ID:153297777 12035227 CUX1 cut like homeobox 1 gene DOID:3892 insulinoma disease_progression ISO RGD:733203 D RGD:9068941 20220609 RGD mRNA:increased expression:pancreas (mouse) PMID:25248790|REF_RGD_ID:152985543 12035227 CUX1 cut like homeobox 1 gene DOID:3892 insulinoma exacerbates ISO RGD:1319831 D RGD:9068941 20220609 RGD protein:increased expression:pancreas (human) PMID:25248790|REF_RGD_ID:152985543 12035227 CUX1 cut like homeobox 1 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1319831 D RGD:9068941 20220609 RGD mRNA:increased expression:lung (human) PMID:28405678|REF_RGD_ID:152985544 12035227 CUX1 cut like homeobox 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12035227 CUX1 cut like homeobox 1 gene DOID:630 genetic disease ISO RGD:1319831 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12035227 CUX1 cut like homeobox 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1319831 D RGD:9068941 20220609 RGD mRNA:increased expression:liver (human) PMID:30561038|REF_RGD_ID:152985541 12035227 CUX1 cut like homeobox 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12035227 CUX1 cut like homeobox 1 gene DOID:9007702 Carcinogenesis ISO RGD:1319831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24316979 12035227 CUX1 cut like homeobox 1 gene DOID:9008363 GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT ISO RGD:1319831 D RGD:7240710 20190710 OMIM 12035227 CUX1 cut like homeobox 1 gene DOID:9008363 GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT ISO RGD:1319831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay with or without impaired intellectual development PMID:25741868|PMID:30014507 12035227 CUX1 cut like homeobox 1 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1319831 D RGD:9068941 20220609 RGD mRNA:increased expression:colorectum (human) PMID:33014778|REF_RGD_ID:152985540 12035254 ATP1B4 ATPase Na+/K+ transporting family member beta 4 gene DOID:0050437 Danon disease ISO RGD:736275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 12035254 ATP1B4 ATPase Na+/K+ transporting family member beta 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12035254 ATP1B4 ATPase Na+/K+ transporting family member beta 4 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:736275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 12035254 ATP1B4 ATPase Na+/K+ transporting family member beta 4 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:736275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 12035254 ATP1B4 ATPase Na+/K+ transporting family member beta 4 gene DOID:12849 autistic disorder ISO RGD:736275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12035254 ATP1B4 ATPase Na+/K+ transporting family member beta 4 gene DOID:630 genetic disease ISO RGD:736275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12035268 TERB2 telomere repeat binding bouquet formation protein 2 gene DOID:0050712 AGAT deficiency ISO RGD:1606959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 12035268 TERB2 telomere repeat binding bouquet formation protein 2 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1606959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 12035268 TERB2 telomere repeat binding bouquet formation protein 2 gene DOID:0112357 spermatogenic failure 59 ISO RGD:1606959 D RGD:7240710 20211222 OMIM 12035268 TERB2 telomere repeat binding bouquet formation protein 2 gene DOID:0112357 spermatogenic failure 59 ISO RGD:1606959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 59 PMID:33211200 12035268 TERB2 telomere repeat binding bouquet formation protein 2 gene DOID:2717 Bloom syndrome ISO RGD:1606959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12035268 TERB2 telomere repeat binding bouquet formation protein 2 gene DOID:630 genetic disease ISO RGD:1606959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12035268 TERB2 telomere repeat binding bouquet formation protein 2 gene DOID:9256 colorectal cancer ISO RGD:1606959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12035277 C5AR2 complement C5a receptor 2 gene DOID:630 genetic disease ISO RGD:1354173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12035286 TXK TXK tyrosine kinase gene DOID:630 genetic disease ISO RGD:1315122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12035306 CMPK1 cytidine/uridine monophosphate kinase 1 gene DOID:11367 congenital aphakia ISO RGD:1604360 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital primary aphakia PMID:28492532 12035306 CMPK1 cytidine/uridine monophosphate kinase 1 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1604360 D RGD:9068941 20200609 RGD DNA:snps:intron:IVS1+1057C>A rs4492666, IVS1-928C>A rs11211524 (human) PMID:21642870|REF_RGD_ID:5133252 12035306 CMPK1 cytidine/uridine monophosphate kinase 1 gene DOID:630 genetic disease ISO RGD:1604360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12035315 SLC39A12 solute carrier family 39 member 12 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1319582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12035315 SLC39A12 solute carrier family 39 member 12 gene DOID:1909 melanoma ISO RGD:1319582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12035315 SLC39A12 solute carrier family 39 member 12 gene DOID:630 genetic disease ISO RGD:1319582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12035315 SLC39A12 solute carrier family 39 member 12 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1309305 D RGD:9068941 20200609 RGD PMID:26258299|REF_RGD_ID:10401832 12035315 SLC39A12 solute carrier family 39 member 12 gene DOID:9006102 Right Ventricular Hypertrophy severity ISO XCO:0000010 D RGD:9068941 20201211 RGD PMID:26258299|REF_RGD_ID:10401832 12035315 SLC39A12 solute carrier family 39 member 12 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:1309305 D RGD:9068941 20200609 RGD PMID:26258299|REF_RGD_ID:10401832 12035315 SLC39A12 solute carrier family 39 member 12 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced severity ISO XCO:0000010 D RGD:9068941 20201211 RGD PMID:26258299|REF_RGD_ID:10401832 12035315 SLC39A12 solute carrier family 39 member 12 gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:1319582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532 12035365 GTPBP2 GTP binding protein 2 gene DOID:0050444 infantile Refsum disease ISO RGD:1314943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12035365 GTPBP2 GTP binding protein 2 gene DOID:13580 cholestasis ISO RGD:1314943 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 12035365 GTPBP2 GTP binding protein 2 gene DOID:630 genetic disease ISO RGD:1314943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12035365 GTPBP2 GTP binding protein 2 gene DOID:9005019 JABERI-ELAHI SYNDROME ISO RGD:1314943 D RGD:7240710 20190315 OMIM 12035365 GTPBP2 GTP binding protein 2 gene DOID:9005019 JABERI-ELAHI SYNDROME ISO RGD:1314943 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Jaberi-Elahi syndrome PMID:25741868|PMID:29449720|PMID:30790272|PMID:32860008 12035365 GTPBP2 GTP binding protein 2 gene DOID:905 Zellweger syndrome ISO RGD:1314943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12035381 GALNT10 polypeptide N-acetylgalactosaminyltransferase 10 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348778 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12035381 GALNT10 polypeptide N-acetylgalactosaminyltransferase 10 gene DOID:630 genetic disease ISO RGD:1348778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12035381 GALNT10 polypeptide N-acetylgalactosaminyltransferase 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12035381 GALNT10 polypeptide N-acetylgalactosaminyltransferase 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348778 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12035399 FAM89B family with sequence similarity 89 member B gene DOID:1059 intellectual disability ISO RGD:1606565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12035399 FAM89B family with sequence similarity 89 member B gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12035399 FAM89B family with sequence similarity 89 member B gene DOID:2746 glycogen storage disease V ISO RGD:1606565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12035399 FAM89B family with sequence similarity 89 member B gene DOID:3070 high grade glioma ISO RGD:1606565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12035399 FAM89B family with sequence similarity 89 member B gene DOID:630 genetic disease ISO RGD:1606565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12035399 FAM89B family with sequence similarity 89 member B gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1606565 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12035399 FAM89B family with sequence similarity 89 member B gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1606565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 12035405 BCORL1 BCL6 corepressor like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12035405 BCORL1 BCL6 corepressor like 1 gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:1346589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:24357419|PMID:28492532 12035405 BCORL1 BCL6 corepressor like 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1346589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12035405 BCORL1 BCL6 corepressor like 1 gene DOID:0111841 Shukla-Vernon syndrome ISO RGD:1346589 D RGD:7240710 20190821 OMIM 12035405 BCORL1 BCL6 corepressor like 1 gene DOID:0111841 Shukla-Vernon syndrome ISO RGD:1346589 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Shukla-Vernon syndrome PMID:24047651|PMID:24896186|PMID:25741868|PMID:27470916|PMID:28492532|PMID:30941876|PMID:33810051|PMID:35178361 12035405 BCORL1 BCL6 corepressor like 1 gene DOID:1059 intellectual disability ISO RGD:1346589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12035405 BCORL1 BCL6 corepressor like 1 gene DOID:12849 autistic disorder ISO RGD:1346589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:25741868|PMID:30208311 12035405 BCORL1 BCL6 corepressor like 1 gene DOID:1826 epilepsy ISO RGD:1346589 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12035405 BCORL1 BCL6 corepressor like 1 gene DOID:2154 nephroblastoma ISO RGD:1346589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 12035405 BCORL1 BCL6 corepressor like 1 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1346589 D RGD:9068941 20210903 RGD PMID:26648304|REF_RGD_ID:11342082 12035405 BCORL1 BCL6 corepressor like 1 gene DOID:630 genetic disease ISO RGD:1346589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12035405 BCORL1 BCL6 corepressor like 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1346589 D RGD:9068941 20210903 RGD PMID:26879601|PMID:29679906|REF_RGD_ID:11556159|REF_RGD_ID:150340705 12035405 BCORL1 BCL6 corepressor like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346589 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12035405 BCORL1 BCL6 corepressor like 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1346589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12035405 BCORL1 BCL6 corepressor like 1 gene DOID:9538 multiple myeloma ISO RGD:1346589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12035437 LHX6 LIM homeobox 6 gene DOID:630 genetic disease ISO RGD:1314642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12035452 STAG2 STAG2 cohesin complex component gene DOID:0050908 myelodysplastic syndrome ISO RGD:1343297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27992414 12035452 STAG2 STAG2 cohesin complex component gene DOID:0060706 X-linked lymphoproliferative syndrome 2 ISO RGD:1343297 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked PMID:17080092|PMID:17989220|PMID:21119115|PMID:25666262|PMID:26581487|PMID:28492532 12035452 STAG2 STAG2 cohesin complex component gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12035452 STAG2 STAG2 cohesin complex component gene DOID:0080333 aortic valve disease 1 ISO RGD:1343297 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic valve disease 1 PMID:25741868 12035452 STAG2 STAG2 cohesin complex component gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:1343297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24056718 12035452 STAG2 STAG2 cohesin complex component gene DOID:0111845 Mullegama-Klein-Martinez syndrome ISO RGD:1343297 D RGD:7240710 20190424 OMIM 12035452 STAG2 STAG2 cohesin complex component gene DOID:0111845 Mullegama-Klein-Martinez syndrome ISO RGD:1343297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mullegama-Klein-Martinez syndrome | ClinVar Annotator: match by term: STAG2-related disorder PMID:25741868|PMID:28296084|PMID:28492532|PMID:29263825|PMID:30158690|PMID:30765867|PMID:31334757|PMID:33619735 12035452 STAG2 STAG2 cohesin complex component gene DOID:11054 urinary bladder cancer ISO RGD:1343297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121789|PMID:24121791|PMID:24121792 12035452 STAG2 STAG2 cohesin complex component gene DOID:12849 autistic disorder ISO RGD:1343297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12035452 STAG2 STAG2 cohesin complex component gene DOID:2671 transitional cell carcinoma ISO RGD:1343297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121792 12035452 STAG2 STAG2 cohesin complex component gene DOID:630 genetic disease ISO RGD:1343297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12035452 STAG2 STAG2 cohesin complex component gene DOID:8692 myeloid leukemia ISO RGD:1343297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23955599 12035452 STAG2 STAG2 cohesin complex component gene DOID:9003937 X Chromosome, Trisomy Xq25 ISO RGD:1343297 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Xq25 duplication syndrome 12035452 STAG2 STAG2 cohesin complex component gene DOID:9008492 Holoprosencephaly 13 ISO RGD:1343297 D RGD:7240710 20200429 OMIM 12035452 STAG2 STAG2 cohesin complex component gene DOID:9008492 Holoprosencephaly 13 ISO RGD:1343297 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 13, X-linked | ClinVar Annotator: match by term: STAG2-related condition PMID:25741868|PMID:28296084|PMID:28492532|PMID:31334757 12035516 DNASE1L3 deoxyribonuclease 1 like 3 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:733865 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 12035516 DNASE1L3 deoxyribonuclease 1 like 3 gene DOID:630 genetic disease ISO RGD:733865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12035516 DNASE1L3 deoxyribonuclease 1 like 3 gene DOID:684 hepatocellular carcinoma ISO RGD:733865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12035516 DNASE1L3 deoxyribonuclease 1 like 3 gene DOID:7148 rheumatoid arthritis ISO RGD:733865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596|PMID:30224649 12035516 DNASE1L3 deoxyribonuclease 1 like 3 gene DOID:9003353 Systemic Lupus Erythematosus 16 ISO RGD:733865 D RGD:7240710 20180130 OMIM 12035516 DNASE1L3 deoxyribonuclease 1 like 3 gene DOID:9003353 Systemic Lupus Erythematosus 16 ISO RGD:733865 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus 16 PMID:21692081|PMID:22019780|PMID:24206041|PMID:25741868|PMID:28492532|PMID:30707351 12035516 DNASE1L3 deoxyribonuclease 1 like 3 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:733865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 12035516 DNASE1L3 deoxyribonuclease 1 like 3 gene DOID:9005172 Lung Neoplasms ISO RGD:733865 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21720004 12035516 DNASE1L3 deoxyribonuclease 1 like 3 gene DOID:9074 systemic lupus erythematosus ISO RGD:733865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22019780 12035536 ZNF652 zinc finger protein 652 gene DOID:630 genetic disease ISO RGD:1350708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12035567 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:0050692 Brody myopathy ISO RGD:731640 D RGD:7240710 20200611 OMIM 12035567 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:0050692 Brody myopathy ISO RGD:731640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brody myopathy PMID:10914677|PMID:15083169|PMID:16199547|PMID:17576681|PMID:17882224|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23757202|PMID:23911890|PMID:24033266|PMID:24707176|PMID:25614869|PMID:25741868|PMID:26248958|PMID:26467025|PMID:28492532|PMID:30688039|PMID:30996034|PMID:32040565|PMID:8841193|PMID:9367679|PMID:9536098 12035567 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:731640 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 12035567 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:731640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 12035567 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:5419 schizophrenia ISO RGD:731640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12035567 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:6000 congestive heart failure ISO RGD:731640 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:19776660 12035567 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:630 genetic disease ISO RGD:731640 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12035567 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:621293 D RGD:9068941 20200611 RGD protein:decreased expression:tail, skeletal muscle PMID:21930674|REF_RGD_ID:13782071 12035567 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:9004484 Sepsis ISO RGD:621293 D RGD:9068941 20200611 RGD PMID:28446393|REF_RGD_ID:13782063 12035567 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621293 D RGD:9068941 20200611 RGD PMID:28483572|REF_RGD_ID:12910731 12035567 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:731640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 12035567 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:9007346 Cachexia ISO RGD:621293 D RGD:9068941 20200611 RGD associated with hepatocellular carcinoma PMID:23200745|REF_RGD_ID:13782066 12035567 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:621293 D RGD:9068941 20200611 RGD PMID:17630344|REF_RGD_ID:13782075 12035567 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:9009207 Alcohol Myopathy ISO RGD:621293 D RGD:9068941 20200611 RGD PMID:14506614|REF_RGD_ID:1581765 12035567 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:621293 D RGD:9068941 20200611 RGD PMID:22009485|REF_RGD_ID:6771327 12035582 TSPAN5 tetraspanin 5 gene DOID:10283 prostate cancer ISO RGD:1602132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12035582 TSPAN5 tetraspanin 5 gene DOID:630 genetic disease ISO RGD:1602132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12035598 NME8 NME/NM23 family member 8 gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:1344206 D RGD:7240710 20180130 OMIM 12035598 NME8 NME/NM23 family member 8 gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:1344206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 PMID:16199547|PMID:17360648|PMID:17576681|PMID:20301301|PMID:22499950|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 12035598 NME8 NME/NM23 family member 8 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12035598 NME8 NME/NM23 family member 8 gene DOID:630 genetic disease ISO RGD:1344206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12035598 NME8 NME/NM23 family member 8 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1344206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17360648|PMID:20301301|PMID:22499950|PMID:24033266|PMID:25741868|PMID:28492532 12035621 PLAC8 placenta associated 8 gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1317680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 12035621 PLAC8 placenta associated 8 gene DOID:10603 glucose intolerance ISO RGD:1308102 D RGD:9068941 20200609 RGD associated with obesity PMID:26296322|REF_RGD_ID:10755343 12035621 PLAC8 placenta associated 8 gene DOID:13272 Klebsiella pneumonia severity ISO RGD:1317681 D RGD:9068941 20210115 RGD PMID:17404296|REF_RGD_ID:40924563 12035621 PLAC8 placenta associated 8 gene DOID:630 genetic disease ISO RGD:1317680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12035621 PLAC8 placenta associated 8 gene DOID:684 hepatocellular carcinoma ISO RGD:1317680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12035621 PLAC8 placenta associated 8 gene DOID:9000371 influenza A ISO RGD:1317681 D RGD:9068941 20210122 RGD PMID:32639988|REF_RGD_ID:40925929 12035621 PLAC8 placenta associated 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12035621 PLAC8 placenta associated 8 gene DOID:9002953 Escherichia Coli Infections severity ISO RGD:1317681 D RGD:9068941 20210115 RGD PMID:17404296|REF_RGD_ID:40924563 12035621 PLAC8 placenta associated 8 gene DOID:9007692 Insulin Resistance ISO RGD:1308102 D RGD:9068941 20200609 RGD associated with obesity PMID:26296322|REF_RGD_ID:10755343 12035621 PLAC8 placenta associated 8 gene DOID:9008090 Chlamydiaceae Infections exacerbates ISO RGD:1317681 D RGD:9068941 20210205 RGD PMID:22238459|REF_RGD_ID:40925930 12035649 SLFN12L schlafen family member 12 like gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:2291763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 12035649 SLFN12L schlafen family member 12 like gene DOID:630 genetic disease ISO RGD:2291763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12035662 PRMT2 protein arginine methyltransferase 2 gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1605435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 12035662 PRMT2 protein arginine methyltransferase 2 gene DOID:12849 autistic disorder ISO RGD:1605435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12035662 PRMT2 protein arginine methyltransferase 2 gene DOID:2841 asthma ISO RGD:1565519 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, spleen PMID:20423833|REF_RGD_ID:9491823 12035662 PRMT2 protein arginine methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1605435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12035719 CISD3 CDGSH iron sulfur domain 3 gene DOID:630 genetic disease ISO RGD:1626692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12035726 CEP120 centrosomal protein 120 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1601819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12035726 CEP120 centrosomal protein 120 gene DOID:0080277 Joubert syndrome 31 ISO RGD:1601819 D RGD:7240710 20190315 OMIM 12035726 CEP120 centrosomal protein 120 gene DOID:0080277 Joubert syndrome 31 ISO RGD:1601819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 31 PMID:17576681|PMID:25741868|PMID:27208211|PMID:28492532|PMID:9536098 12035726 CEP120 centrosomal protein 120 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601819 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12035726 CEP120 centrosomal protein 120 gene DOID:0110093 short-rib thoracic dysplasia 13 with or without polydactyly ISO RGD:1601819 D RGD:7240710 20180130 OMIM 12035726 CEP120 centrosomal protein 120 gene DOID:0110093 short-rib thoracic dysplasia 13 with or without polydactyly ISO RGD:1601819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 13 with or without polydactyly PMID:16199547|PMID:17576681|PMID:25251415|PMID:25361962|PMID:25741868|PMID:27208211|PMID:28492532|PMID:29847808|PMID:30866059|PMID:30988386|PMID:9536098 12035726 CEP120 centrosomal protein 120 gene DOID:630 genetic disease ISO RGD:1601819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12035726 CEP120 centrosomal protein 120 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12035726 CEP120 centrosomal protein 120 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601819 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12035755 RPP25L ribonuclease P/MRP subunit p25 like gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1315272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12035755 RPP25L ribonuclease P/MRP subunit p25 like gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1315272 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12035755 RPP25L ribonuclease P/MRP subunit p25 like gene DOID:0080942 anauxetic dysplasia ISO RGD:1315272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12035755 RPP25L ribonuclease P/MRP subunit p25 like gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1315272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12035755 RPP25L ribonuclease P/MRP subunit p25 like gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1315272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12035755 RPP25L ribonuclease P/MRP subunit p25 like gene DOID:630 genetic disease ISO RGD:1315272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12035755 RPP25L ribonuclease P/MRP subunit p25 like gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1315272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12035755 RPP25L ribonuclease P/MRP subunit p25 like gene DOID:9562 primary ciliary dyskinesia ISO RGD:1315272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12035755 RPP25L ribonuclease P/MRP subunit p25 like gene DOID:9870 galactosemia ISO RGD:1315272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12035770 CYP3A67 cytochrome P450 family 3 subfamily A member 67 gene DOID:630 genetic disease ISO RGD:9685972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12035789 ERAP1 endoplasmic reticulum aminopeptidase 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732566 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12035789 ERAP1 endoplasmic reticulum aminopeptidase 1 gene DOID:10763 hypertension ISO RGD:732566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:13678427 12035789 ERAP1 endoplasmic reticulum aminopeptidase 1 gene DOID:13241 Behcet's disease ISO RGD:732566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23291587 12035789 ERAP1 endoplasmic reticulum aminopeptidase 1 gene DOID:2843 long QT syndrome ISO RGD:732566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12035789 ERAP1 endoplasmic reticulum aminopeptidase 1 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:732566 D RGD:9068941 20200609 RGD PMID:15741767|REF_RGD_ID:2315693 12035789 ERAP1 endoplasmic reticulum aminopeptidase 1 gene DOID:2893 cervix carcinoma ISO RGD:732566 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:19202550|REF_RGD_ID:2315691 12035789 ERAP1 endoplasmic reticulum aminopeptidase 1 gene DOID:630 genetic disease ISO RGD:732566 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12035789 ERAP1 endoplasmic reticulum aminopeptidase 1 gene DOID:7147 ankylosing spondylitis ISO RGD:732566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17952073|PMID:20062062|PMID:21743469|PMID:23291587 12035789 ERAP1 endoplasmic reticulum aminopeptidase 1 gene DOID:8893 psoriasis ISO RGD:732566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953187|PMID:20953190|PMID:23291587|PMID:24212883 12035789 ERAP1 endoplasmic reticulum aminopeptidase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12035789 ERAP1 endoplasmic reticulum aminopeptidase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12035789 ERAP1 endoplasmic reticulum aminopeptidase 1 gene DOID:9005287 PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS ISO RGD:732566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads PMID:25683118|PMID:3527073 12035789 ERAP1 endoplasmic reticulum aminopeptidase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732566 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12035826 DNAH17 dynein axonemal heavy chain 17 gene DOID:0111926 spermatogenic failure 39 ISO RGD:1345551 D RGD:7240710 20191030 OMIM 12035826 DNAH17 dynein axonemal heavy chain 17 gene DOID:0111926 spermatogenic failure 39 ISO RGD:1345551 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 39 PMID:25741868|PMID:31178125|PMID:31658987|PMID:33070343 12035826 DNAH17 dynein axonemal heavy chain 17 gene DOID:630 genetic disease ISO RGD:1345551 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12035826 DNAH17 dynein axonemal heavy chain 17 gene DOID:9007661 Dwarfism ISO RGD:1345551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12035909 MAN2B1 mannosidase alpha class 2B member 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1348586 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12035909 MAN2B1 mannosidase alpha class 2B member 1 gene DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ISO RGD:1348586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 12035909 MAN2B1 mannosidase alpha class 2B member 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1348586 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12035909 MAN2B1 mannosidase alpha class 2B member 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1348586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12035909 MAN2B1 mannosidase alpha class 2B member 1 gene DOID:1059 intellectual disability ISO RGD:1348586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12035909 MAN2B1 mannosidase alpha class 2B member 1 gene DOID:2661 myoepithelioma ISO RGD:1348586 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12035909 MAN2B1 mannosidase alpha class 2B member 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1348586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 12035909 MAN2B1 mannosidase alpha class 2B member 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1348586 D RGD:7240710 20180130 OMIM 12035909 MAN2B1 mannosidase alpha class 2B member 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1348586 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:10071201|PMID:11959458|PMID:12634058|PMID:1472354|PMID:14765545|PMID:15035660|PMID:15712269|PMID:16199547|PMID:16919251|PMID:17404523|PMID:17576681|PMID:17979865|PMID:18414213|PMID:19958498|PMID:20165920|PMID:20301570|PMID:21505070|PMID:22161967|PMID:22700954|PMID:23613340|PMID:24033266|PMID:24353136|PMID:24767253|PMID:25640679|PMID:25741868|PMID:25762455|PMID:26048034|PMID:26633542|PMID:26633546|PMID:26817023|PMID:27959697|PMID:28492532|PMID:28559085|PMID:29859105|PMID:30548430|PMID:31241255|PMID:32331969|PMID:32860008|PMID:34614013|PMID:4358183|PMID:724292|PMID:9158146|PMID:9370301|PMID:9536098|PMID:9758606|PMID:9915946 12035909 MAN2B1 mannosidase alpha class 2B member 1 gene DOID:630 genetic disease ISO RGD:1348586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15035660|PMID:16199547|PMID:17576681|PMID:19958498|PMID:20301570|PMID:21505070|PMID:22161967|PMID:23613340|PMID:24033266|PMID:25741868|PMID:25762455|PMID:26048034|PMID:28492532|PMID:29859105|PMID:30548430|PMID:31241255|PMID:9536098|PMID:9758606|PMID:9915946 12035909 MAN2B1 mannosidase alpha class 2B member 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1348586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868 12035939 PYHIN1 pyrin and HIN domain family member 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1606702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12035939 PYHIN1 pyrin and HIN domain family member 1 gene DOID:10283 prostate cancer ISO RGD:1606702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12035939 PYHIN1 pyrin and HIN domain family member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12035939 PYHIN1 pyrin and HIN domain family member 1 gene DOID:2841 asthma ISO RGD:1606702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21804549 12035939 PYHIN1 pyrin and HIN domain family member 1 gene DOID:630 genetic disease ISO RGD:1606702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12035939 PYHIN1 pyrin and HIN domain family member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12035939 PYHIN1 pyrin and HIN domain family member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12035958 SERINC1 serine incorporator 1 gene DOID:1826 epilepsy ISO RGD:1349070 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12035958 SERINC1 serine incorporator 1 gene DOID:630 genetic disease ISO RGD:1349070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12035972 HECW1 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12035972 HECW1 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1352203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036031 C8H8orf34 chromosome 8 C8orf34 homolog gene DOID:630 genetic disease ISO RGD:1605303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036052 IFNK interferon kappa gene DOID:630 genetic disease ISO RGD:1319166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036055 PHF14 PHD finger protein 14 gene DOID:630 genetic disease ISO RGD:1349780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036089 CENPE centromere protein E gene DOID:0070283 primary autosomal recessive microcephaly 13 ISO RGD:1316119 D RGD:7240710 20180130 OMIM 12036089 CENPE centromere protein E gene DOID:0070283 primary autosomal recessive microcephaly 13 ISO RGD:1316119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 13, primary, autosomal recessive PMID:24748105|PMID:25741868 12036089 CENPE centromere protein E gene DOID:12849 autistic disorder ISO RGD:1316119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 12036089 CENPE centromere protein E gene DOID:3633 beta-mannosidosis ISO RGD:1316119 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 12036089 CENPE centromere protein E gene DOID:630 genetic disease ISO RGD:1316119 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12036089 CENPE centromere protein E gene DOID:684 hepatocellular carcinoma ISO RGD:1316119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12036148 HPD 4-hydroxyphenylpyruvate dioxygenase gene DOID:0050727 tyrosinemia type III ISO RGD:731782 D RGD:7240710 20180725 OMIM 12036148 HPD 4-hydroxyphenylpyruvate dioxygenase gene DOID:0050727 tyrosinemia type III ISO RGD:731782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tyrosinemia type III PMID:10942115|PMID:17560158|PMID:19630565|PMID:23036342|PMID:25255367|PMID:25741868|PMID:28492532|PMID:28649543|PMID:31028937|PMID:31589614|PMID:32109208|PMID:32520295|PMID:9343288 12036148 HPD 4-hydroxyphenylpyruvate dioxygenase gene DOID:0111362 hawkinsinuria ISO RGD:731782 D RGD:7240710 20180130 OMIM 12036148 HPD 4-hydroxyphenylpyruvate dioxygenase gene DOID:0111362 hawkinsinuria ISO RGD:731782 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hawkinsinuria PMID:10942115|PMID:11073718|PMID:1130176|PMID:1519651|PMID:17560158|PMID:17576681|PMID:19630565|PMID:23036342|PMID:25255367|PMID:25741868|PMID:26226126|PMID:28492532|PMID:28649543|PMID:30984715|PMID:31028937|PMID:31589614|PMID:32520295|PMID:858207|PMID:9536098 12036148 HPD 4-hydroxyphenylpyruvate dioxygenase gene DOID:630 genetic disease ISO RGD:731782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12036148 HPD 4-hydroxyphenylpyruvate dioxygenase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942|PMID:22872058 12036148 HPD 4-hydroxyphenylpyruvate dioxygenase gene DOID:9008086 Developmental Disabilities ISO RGD:731782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:32581362 12036148 HPD 4-hydroxyphenylpyruvate dioxygenase gene DOID:9275 tyrosinemia ISO RGD:731782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertyrosinemia 12036171 PRSS23 serine protease 23 gene DOID:0050535 exudative vitreoretinopathy ISO RGD:1346659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial exudative vitreoretinopathy PMID:14507768|PMID:15035989|PMID:17955262|PMID:20340138|PMID:20938005|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 12036171 PRSS23 serine protease 23 gene DOID:0060844 Norrie disease ISO RGD:1346659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrophia bulborum hereditaria PMID:14507768|PMID:15035989|PMID:17955262|PMID:20340138|PMID:20938005|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 12036171 PRSS23 serine protease 23 gene DOID:0080600 COVID-19 ISO RGD:1346659 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12036171 PRSS23 serine protease 23 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1346659 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 | ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant PMID:12172548|PMID:14507768|PMID:15035989|PMID:15488808|PMID:15733276|PMID:15981244|PMID:17955262|PMID:20340138|PMID:20938005|PMID:21097938|PMID:21681106|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 12036171 PRSS23 serine protease 23 gene DOID:1059 intellectual disability ISO RGD:1346659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12036171 PRSS23 serine protease 23 gene DOID:13025 retinopathy of prematurity ISO RGD:1346659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinopathy of prematurity PMID:15733276|PMID:25741868|PMID:28492532 12036171 PRSS23 serine protease 23 gene DOID:1909 melanoma ISO RGD:1346659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12036171 PRSS23 serine protease 23 gene DOID:630 genetic disease ISO RGD:1346659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12036171 PRSS23 serine protease 23 gene DOID:7765 Coats disease ISO RGD:1346659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative retinopathy PMID:14507768|PMID:15035989|PMID:17955262|PMID:20340138|PMID:20938005|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 12036171 PRSS23 serine protease 23 gene DOID:8501 fundus dystrophy ISO RGD:1346659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:14507768|PMID:15035989|PMID:17955262|PMID:20340138|PMID:20938005|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 12036180 LRRC41 leucine rich repeat containing 41 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1607070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma 12036180 LRRC41 leucine rich repeat containing 41 gene DOID:5426 primary ovarian insufficiency ISO RGD:1607070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12036180 LRRC41 leucine rich repeat containing 41 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1607070 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12036180 LRRC41 leucine rich repeat containing 41 gene DOID:630 genetic disease ISO RGD:1607070 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12036194 TRIM10 tripartite motif containing 10 gene DOID:11372 megacolon ISO RGD:1349784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12036194 TRIM10 tripartite motif containing 10 gene DOID:2772 irritant dermatitis ISO RGD:1349784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27258892 12036194 TRIM10 tripartite motif containing 10 gene DOID:630 genetic disease ISO RGD:1349784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036209 LOC100985156 3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7 gene DOID:11612 polycystic ovary syndrome ISO RGD:2837 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovarian cortex (rat) PMID:25887459|REF_RGD_ID:10402205 12036223 BNIP2 BCL2 interacting protein 2 gene DOID:2717 Bloom syndrome ISO RGD:1319009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12036223 BNIP2 BCL2 interacting protein 2 gene DOID:630 genetic disease ISO RGD:1319009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036223 BNIP2 BCL2 interacting protein 2 gene DOID:9256 colorectal cancer ISO RGD:1319009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12036237 LALBA lactalbumin alpha gene DOID:219 colon cancer onset ISO RGD:10853 D RGD:9068941 20200911 RGD PMID:25036966|REF_RGD_ID:38599174 12036237 LALBA lactalbumin alpha gene DOID:2326 gastroenteritis ISO RGD:737361 D RGD:9068941 20200911 RGD protein:decreased expression:serum (human) PMID:1327323|REF_RGD_ID:38599173 12036237 LALBA lactalbumin alpha gene DOID:630 genetic disease ISO RGD:737361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036245 SERTAD3 SERTA domain containing 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12036245 SERTAD3 SERTA domain containing 3 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1603398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12036245 SERTAD3 SERTA domain containing 3 gene DOID:2340 craniosynostosis ISO RGD:1603398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12036245 SERTAD3 SERTA domain containing 3 gene DOID:630 genetic disease ISO RGD:1603398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036245 SERTAD3 SERTA domain containing 3 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1603398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12036245 SERTAD3 SERTA domain containing 3 gene DOID:9269 maple syrup urine disease ISO RGD:1603398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12036257 KLRK1 killer cell lectin like receptor K1 gene DOID:0060704 lymphoproliferative syndrome disease_progression ISO RGD:735993 D RGD:9068941 20201105 RGD associated with Postoperative Complications and Epstein-Barr Virus Infections; protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:22105417|REF_RGD_ID:39128180 12036257 KLRK1 killer cell lectin like receptor K1 gene DOID:11168 anogenital venereal wart ISO RGD:735993 D RGD:9068941 20201105 RGD mRNA,protein:decreased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 12036257 KLRK1 killer cell lectin like receptor K1 gene DOID:1883 hepatitis C ISO RGD:735993 D RGD:9068941 20200924 RGD mRNA:decreased expression:peripheral blood mono-nuclear cell, natural killer cell (human) PMID:26518141|REF_RGD_ID:11553576 12036257 KLRK1 killer cell lectin like receptor K1 gene DOID:1883 hepatitis C ISO RGD:735993 D RGD:9068941 20201118 RGD protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human) PMID:27091211|REF_RGD_ID:40818300 12036257 KLRK1 killer cell lectin like receptor K1 gene DOID:1883 hepatitis C disease_progression ISO RGD:735993 D RGD:9068941 20201118 RGD associated with HIV Seropositivity;protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human) PMID:27091211|REF_RGD_ID:40818300 12036257 KLRK1 killer cell lectin like receptor K1 gene DOID:1909 melanoma ISO RGD:735993 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:17295095 12036257 KLRK1 killer cell lectin like receptor K1 gene DOID:321 tropical spastic paraparesis susceptibility ISO RGD:735993 D RGD:9068941 20200924 RGD DNA:SNPs:3'utr, 5'utr: (rs1049174,rs12821887,rs12819494) (human) PMID:22170554|REF_RGD_ID:39018559 12036257 KLRK1 killer cell lectin like receptor K1 gene DOID:399 tuberculosis treatment ISO RGD:735993 D RGD:9068941 20200924 RGD PMID:23922903|REF_RGD_ID:39128143 12036257 KLRK1 killer cell lectin like receptor K1 gene DOID:630 genetic disease ISO RGD:735993 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036257 KLRK1 killer cell lectin like receptor K1 gene DOID:9003284 HIV Seropositivity ISO RGD:735993 D RGD:9068941 20201118 RGD protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human) PMID:27091211|REF_RGD_ID:40818300 12036257 KLRK1 killer cell lectin like receptor K1 gene DOID:9003393 AIDS-Related Complex treatment ISO RGD:735993 D RGD:9068941 20200924 RGD PMID:23018378|REF_RGD_ID:39018554 12036257 KLRK1 killer cell lectin like receptor K1 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:735993 D RGD:9068941 20201106 RGD protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human) PMID:21168454|REF_RGD_ID:40400738 12036257 KLRK1 killer cell lectin like receptor K1 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:735993 D RGD:9068941 20201112 RGD protein:decreased expression:liver,natural killer cell (human) PMID:25148254|REF_RGD_ID:40813739 12036257 KLRK1 killer cell lectin like receptor K1 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:735993 D RGD:9068941 20200924 RGD PMID:25965701|REF_RGD_ID:39018562 12036257 KLRK1 killer cell lectin like receptor K1 gene DOID:9006262 Cytomegalovirus Infections severity ISO RGD:735993 D RGD:9068941 20200924 RGD DNA:SNP:cds: c.214A>G (rs2255336) (human) PMID:25861030|REF_RGD_ID:39018561 12036257 KLRK1 killer cell lectin like receptor K1 gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:735993 D RGD:9068941 20200924 RGD DNA:SNP,haplotypes:3'utr: (rs10772271) (human) PMID:29967528|REF_RGD_ID:39128159 12036257 KLRK1 killer cell lectin like receptor K1 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:735993 D RGD:9068941 20200924 RGD DNA:SNP:intron 1:(rs2617160) (human) PMID:20648603|REF_RGD_ID:39018553 12036271 HPSE2 heparanase 2 (inactive) gene DOID:0050816 urofacial syndrome ISO RGD:1317455 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ochoa syndrome PMID:25741868 12036271 HPSE2 heparanase 2 (inactive) gene DOID:0080205 CAKUT ISO RGD:1317455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:19669792|PMID:20560210|PMID:25510506|PMID:27151922|PMID:28492532|PMID:30143558 12036271 HPSE2 heparanase 2 (inactive) gene DOID:630 genetic disease ISO RGD:1317455 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12036271 HPSE2 heparanase 2 (inactive) gene DOID:9006560 Urofacial Syndrome 1 ISO RGD:1317455 D RGD:7240710 20180221 OMIM 12036271 HPSE2 heparanase 2 (inactive) gene DOID:9006560 Urofacial Syndrome 1 ISO RGD:1317455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Urofacial syndrome type 1 PMID:11446407|PMID:19669792|PMID:19839856|PMID:20560209|PMID:20560210|PMID:21332471|PMID:25510506|PMID:25741868|PMID:27151922|PMID:28492532|PMID:30143558 12036292 CD5L CD5 molecule like gene DOID:1540 parathyroid carcinoma ISO RGD:1318347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12036292 CD5L CD5 molecule like gene DOID:630 genetic disease ISO RGD:1318347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036292 CD5L CD5 molecule like gene DOID:684 hepatocellular carcinoma ISO RGD:1318347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12036292 CD5L CD5 molecule like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12036292 CD5L CD5 molecule like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12036302 HBP1 HMG-box transcription factor 1 gene DOID:0070261 congenital disorder of glycosylation type IIi ISO RGD:733921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COG5-CDG 12036302 HBP1 HMG-box transcription factor 1 gene DOID:0080600 COVID-19 ISO RGD:733921 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12036302 HBP1 HMG-box transcription factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12036302 HBP1 HMG-box transcription factor 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:733921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 12036302 HBP1 HMG-box transcription factor 1 gene DOID:630 genetic disease ISO RGD:733921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036302 HBP1 HMG-box transcription factor 1 gene DOID:8398 osteoarthritis ISO RGD:733921 D RGD:9068941 20200609 RGD PMID:22586168|REF_RGD_ID:10402054 12036332 SAP30BP SAP30 binding protein gene DOID:5419 schizophrenia ISO RGD:1602722 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12036332 SAP30BP SAP30 binding protein gene DOID:630 genetic disease ISO RGD:1602722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036350 KRT40 keratin 40 gene DOID:630 genetic disease ISO RGD:1606169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036363 TUT1 terminal uridylyl transferase 1, U6 snRNA-specific gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1345565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12036363 TUT1 terminal uridylyl transferase 1, U6 snRNA-specific gene DOID:1059 intellectual disability ISO RGD:1345565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12036363 TUT1 terminal uridylyl transferase 1, U6 snRNA-specific gene DOID:630 genetic disease ISO RGD:1345565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036381 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:0050439 Usher syndrome ISO RGD:1604336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 12036381 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1604336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 12036381 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:1540 parathyroid carcinoma ISO RGD:1604336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12036381 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:3652 Leigh disease ISO RGD:1604336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25130867|PMID:25741868|PMID:28492532 12036381 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:5119 ovarian cyst ISO RGD:1604336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12036381 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:574 peripheral nervous system disease ISO RGD:1604336 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25130867|PMID:8409271 12036381 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1604336 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29410512 12036381 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:83 cataract ISO RGD:1604336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract PMID:25130867|PMID:25741868|PMID:8409271 12036381 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:870 neuropathy ISO RGD:1604336 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25130867|PMID:8409271 12036381 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1604336 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25130867|PMID:25741868|PMID:28492532 12036381 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:9004880 CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA ISO RGD:1604336 D RGD:7240710 20180130 OMIM 12036381 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:9004880 CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA ISO RGD:1604336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia PMID:25130867|PMID:25741868|PMID:28328135|PMID:28492532|PMID:30041933|PMID:30419932|PMID:8409271 12036381 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:9006949 Martsolf Syndrome ISO RGD:1604336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 12036381 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12036408 C1QA complement C1q A chain gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1315493 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 12036408 C1QA complement C1q A chain gene DOID:0050486 exanthem ISO RGD:1315493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8840296 12036408 C1QA complement C1q A chain gene DOID:0060369 Parkinson's disease 6 ISO RGD:1315493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12036408 C1QA complement C1q A chain gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1315493 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12036408 C1QA complement C1q A chain gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1315493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12036408 C1QA complement C1q A chain gene DOID:0080600 COVID-19 ISO RGD:1315493 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12036408 C1QA complement C1q A chain gene DOID:1557 hypersensitivity reaction type III disease ISO RGD:1315493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8840296 12036408 C1QA complement C1q A chain gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1315493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8840296 12036408 C1QA complement C1q A chain gene DOID:2921 glomerulonephritis susceptibility ISO RGD:1315493 D RGD:9068941 20200609 RGD DNA:nonsense mutation (human) PMID:8840296|REF_RGD_ID:1600549 12036408 C1QA complement C1q A chain gene DOID:2986 IgA glomerulonephritis ISO RGD:1315493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636|PMID:8840296 12036408 C1QA complement C1q A chain gene DOID:630 genetic disease ISO RGD:1315493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12036408 C1QA complement C1q A chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12036408 C1QA complement C1q A chain gene DOID:9005556 C1q Deficiency 1 ISO RGD:1315493 D RGD:7240710 20230505 OMIM 12036408 C1QA complement C1q A chain gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1315493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12036408 C1QA complement C1q A chain gene DOID:9007516 C1q Deficiency ISO RGD:1315493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: C1Q deficiency PMID:21654842|PMID:25741868|PMID:26563161|PMID:28492532|PMID:29739689|PMID:30008451|PMID:7594474|PMID:8840296|PMID:9225968 12036408 C1QA complement C1q A chain gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1315493 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 12036408 C1QA complement C1q A chain gene DOID:9074 systemic lupus erythematosus ISO RGD:1315493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8840296 12036453 TRIM27 tripartite motif containing 27 gene DOID:11372 megacolon ISO RGD:1320820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12036453 TRIM27 tripartite motif containing 27 gene DOID:630 genetic disease ISO RGD:1320820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036465 HECTD3 HECT domain E3 ubiquitin protein ligase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12036465 HECTD3 HECT domain E3 ubiquitin protein ligase 3 gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1606229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:28492532 12036465 HECTD3 HECT domain E3 ubiquitin protein ligase 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12036465 HECTD3 HECT domain E3 ubiquitin protein ligase 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12036465 HECTD3 HECT domain E3 ubiquitin protein ligase 3 gene DOID:630 genetic disease ISO RGD:1606229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036489 SPSB2 splA/ryanodine receptor domain and SOCS box containing 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1603193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12036499 TMED9 transmembrane p24 trafficking protein 9 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1344143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12036499 TMED9 transmembrane p24 trafficking protein 9 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1344143 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12036499 TMED9 transmembrane p24 trafficking protein 9 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1344143 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 12036499 TMED9 transmembrane p24 trafficking protein 9 gene DOID:630 genetic disease ISO RGD:1344143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036499 TMED9 transmembrane p24 trafficking protein 9 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:1344143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 12036499 TMED9 transmembrane p24 trafficking protein 9 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1344143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12036512 KIF2C kinesin family member 2C gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:734428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12036512 KIF2C kinesin family member 2C gene DOID:0080600 COVID-19 ISO RGD:734428 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12036512 KIF2C kinesin family member 2C gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:734428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12036512 KIF2C kinesin family member 2C gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:734428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12036512 KIF2C kinesin family member 2C gene DOID:2773 contact dermatitis ISO RGD:734428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12036512 KIF2C kinesin family member 2C gene DOID:630 genetic disease ISO RGD:734428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036512 KIF2C kinesin family member 2C gene DOID:684 hepatocellular carcinoma ISO RGD:734428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12036512 KIF2C kinesin family member 2C gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:734428 D RGD:9068941 20200609 RGD associated with colorectal cancer PMID:18506187|REF_RGD_ID:27372891 12036512 KIF2C kinesin family member 2C gene DOID:9256 colorectal cancer disease_progression ISO RGD:734428 D RGD:9068941 20200609 RGD PMID:18506187|REF_RGD_ID:27372891 12036543 MRPL58 mitochondrial ribosomal protein L58 gene DOID:630 genetic disease ISO RGD:1317429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036558 KCNH3 potassium voltage-gated channel subfamily H member 3 gene DOID:630 genetic disease ISO RGD:733984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036588 ZNF277 zinc finger protein 277 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12036588 ZNF277 zinc finger protein 277 gene DOID:5419 schizophrenia ISO RGD:1353791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12036588 ZNF277 zinc finger protein 277 gene DOID:630 genetic disease ISO RGD:1353791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036588 ZNF277 zinc finger protein 277 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12036608 ALX1 ALX homeobox 1 gene DOID:0060668 anencephaly ISO RGD:10288 D RGD:9068941 20200609 RGD PMID:8673125|REF_RGD_ID:734689 12036608 ALX1 ALX homeobox 1 gene DOID:0081044 frontonasal dysplasia ISO RGD:732877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12036608 ALX1 ALX homeobox 1 gene DOID:0081047 frontonasal dysplasia 3 ISO RGD:732877 D RGD:7240710 20180130 OMIM 12036608 ALX1 ALX homeobox 1 gene DOID:0081047 frontonasal dysplasia 3 ISO RGD:732877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontonasal dysplasia 3 PMID:20451171|PMID:24467814|PMID:27324866|PMID:28492532 12036608 ALX1 ALX homeobox 1 gene DOID:3910 lung adenocarcinoma ISO RGD:732877 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 12036608 ALX1 ALX homeobox 1 gene DOID:630 genetic disease ISO RGD:732877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036608 ALX1 ALX homeobox 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9847249 12036619 TMEM185A transmembrane protein 185A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12036619 TMEM185A transmembrane protein 185A gene DOID:12849 autistic disorder ISO RGD:1347995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12036619 TMEM185A transmembrane protein 185A gene DOID:630 genetic disease ISO RGD:1347995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036635 FAM13C family with sequence similarity 13 member C gene DOID:10283 prostate cancer ISO RGD:1320881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12036635 FAM13C family with sequence similarity 13 member C gene DOID:630 genetic disease ISO RGD:1320881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036667 LMOD2 leiomodin 2 gene DOID:0081163 dilated cardiomyopathy 2G ISO RGD:1603238 D RGD:7240710 20220608 OMIM 12036667 LMOD2 leiomodin 2 gene DOID:0081163 dilated cardiomyopathy 2G ISO RGD:1603238 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2G PMID:25741868|PMID:31517052|PMID:34888509|PMID:35082396 12036667 LMOD2 leiomodin 2 gene DOID:0110458 dilated cardiomyopathy 1BB ISO RGD:1603238 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy PMID:35082396 12036667 LMOD2 leiomodin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1557393 D RGD:9068941 20220825 MouseDO 12036667 LMOD2 leiomodin 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12036667 LMOD2 leiomodin 2 gene DOID:630 genetic disease ISO RGD:1603238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036692 IMPDH1 inosine monophosphate dehydrogenase 1 gene DOID:0110216 Leber congenital amaurosis 11 ISO RGD:1322388 D RGD:7240710 20180130 OMIM 12036692 IMPDH1 inosine monophosphate dehydrogenase 1 gene DOID:0110216 Leber congenital amaurosis 11 ISO RGD:1322388 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 11 PMID:16384941|PMID:17851563|PMID:19480389|PMID:20045992|PMID:20238057|PMID:20718729|PMID:24244438|PMID:25741868|PMID:26558346|PMID:28492532|PMID:30718709 12036692 IMPDH1 inosine monophosphate dehydrogenase 1 gene DOID:0110388 retinitis pigmentosa 10 ISO RGD:1322388 D RGD:7240710 20180130 OMIM 12036692 IMPDH1 inosine monophosphate dehydrogenase 1 gene DOID:0110388 retinitis pigmentosa 10 ISO RGD:1322388 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 10 PMID:11875049|PMID:11875050|PMID:15851576|PMID:15882147|PMID:16384941|PMID:16671097|PMID:21791244|PMID:25741868|PMID:26720483|PMID:28492532|PMID:28945494 12036692 IMPDH1 inosine monophosphate dehydrogenase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1322388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20045992|PMID:20718729|PMID:24244438|PMID:25741868|PMID:28166811|PMID:28492532|PMID:30718709 12036692 IMPDH1 inosine monophosphate dehydrogenase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1322388 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20045992|PMID:20718729|PMID:24244438|PMID:25741868|PMID:28492532|PMID:30718709 12036692 IMPDH1 inosine monophosphate dehydrogenase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1322388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20045992|PMID:20718729|PMID:24244438|PMID:25698705|PMID:25741868|PMID:28492532|PMID:30718709 12036692 IMPDH1 inosine monophosphate dehydrogenase 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1322388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:30718709 12036692 IMPDH1 inosine monophosphate dehydrogenase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12036692 IMPDH1 inosine monophosphate dehydrogenase 1 gene DOID:630 genetic disease ISO RGD:1322388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12036692 IMPDH1 inosine monophosphate dehydrogenase 1 gene DOID:8466 retinal degeneration ISO RGD:1551714 D RGD:9068941 20200609 RGD PMID:14981049|REF_RGD_ID:5144136 12036692 IMPDH1 inosine monophosphate dehydrogenase 1 gene DOID:8466 retinal degeneration ISO RGD:1551714 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina (mouse) PMID:11875049|REF_RGD_ID:5144221 12036692 IMPDH1 inosine monophosphate dehydrogenase 1 gene DOID:8501 fundus dystrophy ISO RGD:1322388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17576681|PMID:28492532|PMID:9536098 12036720 DRICH1 aspartate rich 1 gene DOID:0081135 agammaglobulinemia 2 ISO RGD:1602719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 12036720 DRICH1 aspartate rich 1 gene DOID:1826 epilepsy ISO RGD:1602719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12036720 DRICH1 aspartate rich 1 gene DOID:5419 schizophrenia ISO RGD:1602719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12036720 DRICH1 aspartate rich 1 gene DOID:630 genetic disease ISO RGD:1602719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036738 KCTD6 potassium channel tetramerization domain containing 6 gene DOID:630 genetic disease ISO RGD:1317853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036738 KCTD6 potassium channel tetramerization domain containing 6 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1317853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 12036748 NUDT8 nudix hydrolase 8 gene DOID:1059 intellectual disability ISO RGD:1319158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12036748 NUDT8 nudix hydrolase 8 gene DOID:630 genetic disease ISO RGD:1319158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036748 NUDT8 nudix hydrolase 8 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1319158 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12036748 NUDT8 nudix hydrolase 8 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1319158 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12036756 EPRS1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:0050439 Usher syndrome ISO RGD:1322145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 12036756 EPRS1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1322145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 12036756 EPRS1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:1059 intellectual disability ISO RGD:1322145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability 12036756 EPRS1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1322145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12036756 EPRS1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1322145 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12036756 EPRS1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:9006949 Martsolf Syndrome ISO RGD:1322145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 12036756 EPRS1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1322145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12036756 EPRS1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:9009193 Hypomyelinating Leukodystrophy 15 ISO RGD:1322145 D RGD:7240710 20190315 OMIM 12036756 EPRS1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:9009193 Hypomyelinating Leukodystrophy 15 ISO RGD:1322145 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 15 PMID:17576681|PMID:25741868|PMID:28492532|PMID:29576217|PMID:9536098 12036756 EPRS1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12036792 COL26A1 collagen type XXVI alpha 1 chain gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12036792 COL26A1 collagen type XXVI alpha 1 chain gene DOID:630 genetic disease ISO RGD:1345849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036816 TRNP1 TMF1 regulated nuclear protein 1 gene DOID:630 genetic disease ISO RGD:1601688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036854 LOC100968898 cytochrome b5 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:736806 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12036854 LOC100968898 cytochrome b5 gene DOID:0112316 methemoglobinemia and ambiguous genitalia ISO RGD:736806 D RGD:7240710 20180130 OMIM 12036854 LOC100968898 cytochrome b5 gene DOID:0112316 methemoglobinemia and ambiguous genitalia ISO RGD:736806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ISOLATED 17,20-LYASE DEFICIENCY, PURE PMID:20080843|PMID:22170710|PMID:25741868|PMID:3951505|PMID:8262522 12036854 LOC100968898 cytochrome b5 gene DOID:10783 methemoglobinemia ISO RGD:736806 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.S127P (human) PMID:2107882|REF_RGD_ID:1599659 12036854 LOC100968898 cytochrome b5 gene DOID:11394 adult respiratory distress syndrome ISO RGD:736806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12036854 LOC100968898 cytochrome b5 gene DOID:11400 pyelonephritis ISO RGD:620558 D RGD:9068941 20200609 RGD PMID:9848217|REF_RGD_ID:1599663 12036854 LOC100968898 cytochrome b5 gene DOID:289 endometriosis ISO RGD:736806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12036854 LOC100968898 cytochrome b5 gene DOID:630 genetic disease ISO RGD:736806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12036854 LOC100968898 cytochrome b5 gene DOID:6420 pulmonary valve stenosis ISO RGD:736806 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12036854 LOC100968898 cytochrome b5 gene DOID:8445 intestinal volvulus ISO RGD:736806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12036854 LOC100968898 cytochrome b5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12036854 LOC100968898 cytochrome b5 gene DOID:9005309 Congenital Methemoglobinemia ISO RGD:736806 D RGD:9068941 20200609 RGD DNA:missense, nonsense mutations:splice junction,cds:multiple PMID:18343696|REF_RGD_ID:11352695 12036854 LOC100968898 cytochrome b5 gene DOID:9005309 Congenital Methemoglobinemia ISO RGD:736806 D RGD:9068941 20200609 RGD protein:decreased activity:erythrocyte membrane: PMID:7451647|REF_RGD_ID:11352693 12036854 LOC100968898 cytochrome b5 gene DOID:9008419 Volvulus Of Midgut ISO RGD:736806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12036854 LOC100968898 cytochrome b5 gene DOID:9637 stomatitis ISO RGD:736806 D RGD:9068941 20200609 RGD PMID:10406239|REF_RGD_ID:11352692 12036854 LOC100968898 cytochrome b5 gene DOID:9970 obesity ISO RGD:736806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12036863 SPIN1 spindlin 1 gene DOID:630 genetic disease ISO RGD:1314698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036891 KDM5B lysine demethylase 5B gene DOID:0060041 autism spectrum disorder ISO RGD:1322449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders PMID:25741868 12036891 KDM5B lysine demethylase 5B gene DOID:0081226 autosomal recessive intellectual developmental disorder 65 ISO RGD:1322449 D RGD:7240710 20190315 OMIM 12036891 KDM5B lysine demethylase 5B gene DOID:0081226 autosomal recessive intellectual developmental disorder 65 ISO RGD:1322449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 65 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 PMID:25741868|PMID:28492532|PMID:29276005|PMID:30217758|PMID:30409806 12036891 KDM5B lysine demethylase 5B gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1322449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12036891 KDM5B lysine demethylase 5B gene DOID:10283 prostate cancer severity ISO RGD:1322449 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland (human) PMID:18048344|REF_RGD_ID:9587744 12036891 KDM5B lysine demethylase 5B gene DOID:1059 intellectual disability ISO RGD:1322449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12036891 KDM5B lysine demethylase 5B gene DOID:11054 urinary bladder cancer ISO RGD:1322449 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder (human) PMID:20226085|REF_RGD_ID:9587778 12036891 KDM5B lysine demethylase 5B gene DOID:1540 parathyroid carcinoma ISO RGD:1322449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12036891 KDM5B lysine demethylase 5B gene DOID:1612 breast cancer treatment ISO RGD:1322449 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:21369698|REF_RGD_ID:9587774 12036891 KDM5B lysine demethylase 5B gene DOID:3070 high grade glioma ISO RGD:1322449 D RGD:9068941 20200609 RGD PMID:25450384|REF_RGD_ID:13702126 12036891 KDM5B lysine demethylase 5B gene DOID:3070 high grade glioma disease_progression ISO RGD:1322449 D RGD:9068941 20200609 RGD PMID:25450384|REF_RGD_ID:13702126 12036891 KDM5B lysine demethylase 5B gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1322449 D RGD:9068941 20200609 RGD protein:increased expression:esophageal mucosa, cytoplasm (human) PMID:22534467|REF_RGD_ID:9587776 12036891 KDM5B lysine demethylase 5B gene DOID:6039 uveal melanoma severity ISO RGD:1322449 D RGD:9068941 20200609 RGD protein:increased expression:uvea (human) PMID:22669717|REF_RGD_ID:9587775 12036891 KDM5B lysine demethylase 5B gene DOID:630 genetic disease ISO RGD:1322449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12036891 KDM5B lysine demethylase 5B gene DOID:9002928 Colonic Neoplasms ISO RGD:1322449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25043185 12036891 KDM5B lysine demethylase 5B gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1322449 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12036891 KDM5B lysine demethylase 5B gene DOID:9008443 Colorectal Neoplasms severity ISO RGD:1322449 D RGD:9068941 20200609 RGD PMID:23354547|REF_RGD_ID:9587777 12036891 KDM5B lysine demethylase 5B gene DOID:9008582 Developmental Disease ISO RGD:1322449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12036891 KDM5B lysine demethylase 5B gene DOID:9008939 Breast Neoplasms severity ISO RGD:1322449 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:10336460|REF_RGD_ID:9587743 12036891 KDM5B lysine demethylase 5B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12036944 CLEC14A C-type lectin domain containing 14A gene DOID:630 genetic disease ISO RGD:1603556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036944 CLEC14A C-type lectin domain containing 14A gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1603556 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12036949 METTL26 methyltransferase like 26 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1603944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12036949 METTL26 methyltransferase like 26 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1603944 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12036949 METTL26 methyltransferase like 26 gene DOID:1826 epilepsy ISO RGD:1603944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12036949 METTL26 methyltransferase like 26 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12036949 METTL26 methyltransferase like 26 gene DOID:630 genetic disease ISO RGD:1603944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036962 ZNF808 zinc finger protein 808 gene DOID:630 genetic disease ISO RGD:1603832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036969 ABCA6 ATP binding cassette subfamily A member 6 gene DOID:3042 allergic contact dermatitis ISO RGD:1319094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 12036969 ABCA6 ATP binding cassette subfamily A member 6 gene DOID:630 genetic disease ISO RGD:1319094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12036969 ABCA6 ATP binding cassette subfamily A member 6 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12037015 MYL10 myosin light chain 10 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12037015 MYL10 myosin light chain 10 gene DOID:630 genetic disease ISO RGD:1603931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12037027 MYDGF myeloid derived growth factor gene DOID:0080600 COVID-19 ISO RGD:1345552 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12037027 MYDGF myeloid derived growth factor gene DOID:630 genetic disease ISO RGD:1345552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12037027 MYDGF myeloid derived growth factor gene DOID:9000058 Keloid ISO RGD:1345552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12037037 PIGH phosphatidylinositol glycan anchor biosynthesis class H gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1322902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 12037037 PIGH phosphatidylinositol glycan anchor biosynthesis class H gene DOID:10283 prostate cancer ISO RGD:1322902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12037037 PIGH phosphatidylinositol glycan anchor biosynthesis class H gene DOID:630 genetic disease ISO RGD:1322902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:33156547|PMID:35445667 12037037 PIGH phosphatidylinositol glycan anchor biosynthesis class H gene DOID:9003249 Glycosylphosphatidylinositol Biosynthesis Defect 17 ISO RGD:1322902 D RGD:7240710 20190315 OMIM 12037037 PIGH phosphatidylinositol glycan anchor biosynthesis class H gene DOID:9003249 Glycosylphosphatidylinositol Biosynthesis Defect 17 ISO RGD:1322902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 17 PMID:25741868|PMID:29573052|PMID:29603516|PMID:33156547|PMID:35445667 12037061 SFXN4 sideroflexin 4 gene DOID:0111484 combined oxidative phosphorylation deficiency 18 ISO RGD:1314503 D RGD:7240710 20180130 OMIM 12037061 SFXN4 sideroflexin 4 gene DOID:0111484 combined oxidative phosphorylation deficiency 18 ISO RGD:1314503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome PMID:16199547|PMID:24119684|PMID:25741868|PMID:28492532 12037061 SFXN4 sideroflexin 4 gene DOID:630 genetic disease ISO RGD:1314503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12037084 PRRG3 proline rich and Gla domain 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12037084 PRRG3 proline rich and Gla domain 3 gene DOID:12849 autistic disorder ISO RGD:1343058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12037084 PRRG3 proline rich and Gla domain 3 gene DOID:630 genetic disease ISO RGD:1343058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12037097 DGCR2 DiGeorge syndrome critical region gene 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1321547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12037097 DGCR2 DiGeorge syndrome critical region gene 2 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1321547 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12037097 DGCR2 DiGeorge syndrome critical region gene 2 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1321547 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12037097 DGCR2 DiGeorge syndrome critical region gene 2 gene DOID:0111996 immunodeficiency 51 ISO RGD:1321547 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12037097 DGCR2 DiGeorge syndrome critical region gene 2 gene DOID:1059 intellectual disability ISO RGD:1321547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12037097 DGCR2 DiGeorge syndrome critical region gene 2 gene DOID:11198 DiGeorge syndrome ISO RGD:1321547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12037097 DGCR2 DiGeorge syndrome critical region gene 2 gene DOID:11372 megacolon ISO RGD:1321547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12037097 DGCR2 DiGeorge syndrome critical region gene 2 gene DOID:12583 velocardiofacial syndrome ISO RGD:1321547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12037097 DGCR2 DiGeorge syndrome critical region gene 2 gene DOID:12849 autistic disorder ISO RGD:1321547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12037097 DGCR2 DiGeorge syndrome critical region gene 2 gene DOID:1826 epilepsy ISO RGD:1321547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12037097 DGCR2 DiGeorge syndrome critical region gene 2 gene DOID:5419 schizophrenia ISO RGD:1321547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12037097 DGCR2 DiGeorge syndrome critical region gene 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1321547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12037097 DGCR2 DiGeorge syndrome critical region gene 2 gene DOID:630 genetic disease ISO RGD:1321547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12037097 DGCR2 DiGeorge syndrome critical region gene 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12037097 DGCR2 DiGeorge syndrome critical region gene 2 gene DOID:9007661 Dwarfism ISO RGD:1321547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12037097 DGCR2 DiGeorge syndrome critical region gene 2 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1321547 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1345647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:23329068|PMID:23453664|PMID:23959892|PMID:24009516|PMID:24033266|PMID:25047097|PMID:25099625|PMID:25607374|PMID:25620558|PMID:25741868|PMID:26025130|PMID:28099038|PMID:28492532 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:0050671 female breast cancer susceptibility ISO RGD:1345647 D RGD:9068941 20220609 RGD DNA:missense mutation:cds: (human) PMID:30303537|REF_RGD_ID:152995259 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1345647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1345647 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:17576681|PMID:25741868|PMID:28492532|PMID:29344583|PMID:30523342|PMID:9536098 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:0070020 autosomal dominant dyskeratosis congenita 4 ISO RGD:1345647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 4 PMID:23329068|PMID:23453664|PMID:23959892|PMID:25607374|PMID:25741868|PMID:27128385|PMID:28099038|PMID:28492532|PMID:28930861 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1345647 D RGD:7240710 20180130 OMIM 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1345647 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:16199547|PMID:17576681|PMID:19461895|PMID:19822871|PMID:23329068|PMID:23453664|PMID:23591994|PMID:23692823|PMID:23729807|PMID:23829372|PMID:23959892|PMID:24009516|PMID:24033266|PMID:24582487|PMID:25047097|PMID:25099625|PMID:25182133|PMID:25607374|PMID:25620558|PMID:25640679|PMID:25741868|PMID:25848748|PMID:26022962|PMID:26025130|PMID:26136524|PMID:26808564|PMID:26847928|PMID:27128385|PMID:27415407|PMID:27418648|PMID:27540018|PMID:27779742|PMID:27824607|PMID:28099038|PMID:28192371|PMID:28492532|PMID:28495916|PMID:28507545|PMID:28930861|PMID:28979815|PMID:29344583|PMID:29361909|PMID:29891356|PMID:29981437|PMID:30303537|PMID:30462709|PMID:30523160|PMID:30523342|PMID:30995915|PMID:31268371|PMID:32662942|PMID:34021146|PMID:9536098 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:0070025 X-linked dyskeratosis congenita ISO RGD:1345647 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, X-linked PMID:17576681|PMID:23959892|PMID:26847928|PMID:28492532|PMID:9536098 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1345647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1345647 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:0111444 progressive myoclonus epilepsy 4 ISO RGD:1345647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome PMID:25741868 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:1345647 D RGD:9068941 20220609 RGD DNA:SNP:cds:rs2297441|rs3208008 (human) PMID:31762827|REF_RGD_ID:152995257 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:10325 silicosis ISO RGD:1306721 D RGD:9068941 20220609 RGD mRNA:decreased expression:lung (rat) PMID:29230030|REF_RGD_ID:152977761 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:10907 microcephaly ISO RGD:1345647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:1324 lung cancer ameliorates ISO RGD:1345647 D RGD:9068941 20220609 RGD DNA:SNP:cds:rs2738789 (human) PMID:27765928|REF_RGD_ID:152993553 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:1324 lung cancer susceptibility ISO RGD:1345647 D RGD:9068941 20220609 RGD DNA:SNP:cds:rs7261546|rs6062299|rs3787098 (human) PMID:27765928|REF_RGD_ID:152993553 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1345647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:1909 melanoma ISO RGD:1345647 D RGD:9068941 20220610 RGD DNA:SNP:cds:rs75691080 (human) PMID:25231748|REF_RGD_ID:152995261 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1345647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:16199547|PMID:17576681|PMID:19461895|PMID:23329068|PMID:23453664|PMID:23829372|PMID:23959892|PMID:24009516|PMID:24033266|PMID:24582487|PMID:25047097|PMID:25099625|PMID:25607374|PMID:25620558|PMID:25741868|PMID:25848748|PMID:26022962|PMID:26025130|PMID:26136524|PMID:26808564|PMID:27128385|PMID:27415407|PMID:27418648|PMID:27824607|PMID:28099038|PMID:28492532|PMID:28495916|PMID:28507545|PMID:28930861|PMID:28979815|PMID:29344583|PMID:29361909|PMID:29891356|PMID:29981437|PMID:30303537|PMID:30462709|PMID:30523342|PMID:30995915|PMID:31268371|PMID:34021146|PMID:9536098 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:3070 high grade glioma ISO RGD:1345647 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578366|PMID:19578367 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:3079 childhood astrocytic tumor ameliorates ISO RGD:1345647 D RGD:9068941 20220609 RGD DNA:SNP:cds:rs6089953|rs6010620|rs2297440 (human) PMID:26014354|REF_RGD_ID:152985535 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:3079 childhood astrocytic tumor susceptibility ISO RGD:1345647 D RGD:9068941 20220609 RGD DNA:SNP:cds:rs4809324 (human) PMID:26014354|REF_RGD_ID:152985535 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:3083 chronic obstructive pulmonary disease ameliorates ISO RGD:1345647 D RGD:9068941 20220609 RGD DNA:SNP:cds:rs4809324 (human) PMID:28360516|REF_RGD_ID:152985694 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:3717 gastric adenocarcinoma susceptibility ISO RGD:1345647 D RGD:9068941 20220609 RGD DNA:amplification:cds: (human) PMID:27366209|REF_RGD_ID:152995256 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1345647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:23329068|PMID:23453664|PMID:23959892|PMID:24033266|PMID:25047097|PMID:25607374|PMID:25741868|PMID:25848748|PMID:27128385|PMID:27540018|PMID:28099038|PMID:28192371|PMID:28492532|PMID:28930861|PMID:29361909 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:5076 mixed glioma susceptibility ISO RGD:1345647 D RGD:9068941 20220609 RGD DNA:SNPs:multiple:multiple (human) PMID:30462709|REF_RGD_ID:152977767 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:630 genetic disease ISO RGD:1345647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23453664|PMID:23959892|PMID:24009516|PMID:24033266|PMID:25047097|PMID:25099625|PMID:25607374|PMID:25620558|PMID:25741868|PMID:26025130|PMID:26847928|PMID:28492532|PMID:29344583|PMID:30523342|PMID:31268371|PMID:9536098 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:9000528 Coronary Disease ameliorates ISO RGD:1345647 D RGD:9068941 20220609 RGD DNA:SNP:cds:rs6010620|rs4809324 (human) PMID:30623606|REF_RGD_ID:152985693 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:9001272 Hoyeraal Hreidarsson Syndrome ISO RGD:1345647 D RGD:9068941 20220609 RGD DNA:nonsense mutation, missense mutation:cds:c.C2920T:p.R974X, c.G1476T:p.M492I (human) PMID:23959892|REF_RGD_ID:152977765 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1345647 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28604730 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:1345647 D RGD:7240710 20180130 OMIM 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:1345647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 PMID:14534157|PMID:19822871|PMID:23329068|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24009516|PMID:24033266|PMID:24130156|PMID:24582487|PMID:25047097|PMID:25099625|PMID:25607374|PMID:25620558|PMID:25741868|PMID:25848748|PMID:26022962|PMID:26025130|PMID:27779742|PMID:28492532|PMID:29344583|PMID:30523342 12037113 RTEL1 regulator of telomere elongation helicase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1345647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:25741868 12037168 CLDN18 claudin 18 gene DOID:11372 megacolon ISO RGD:1351425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12037168 CLDN18 claudin 18 gene DOID:2841 asthma ISO RGD:1351425 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:27215490 12037168 CLDN18 claudin 18 gene DOID:630 genetic disease ISO RGD:1351425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12037182 CHST11 carbohydrate sulfotransferase 11 gene DOID:0050581 brachydactyly ISO RGD:1318147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:29514872 12037182 CHST11 carbohydrate sulfotransferase 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1318147 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12037182 CHST11 carbohydrate sulfotransferase 11 gene DOID:2256 osteochondrodysplasia ISO RGD:1318147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chondrodysplasia PMID:29514872 12037182 CHST11 carbohydrate sulfotransferase 11 gene DOID:630 genetic disease ISO RGD:1318147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12037182 CHST11 carbohydrate sulfotransferase 11 gene DOID:9005586 Synpolydactyly 1 ISO RGD:1318147 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Synpolydactyly type 1 PMID:29514872 12037187 KIF2A kinesin family member 2A gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:735496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23603762 12037187 KIF2A kinesin family member 2A gene DOID:0090134 complex cortical dysplasia with other brain malformations 3 ISO RGD:735496 D RGD:7240710 20180130 OMIM 12037187 KIF2A kinesin family member 2A gene DOID:0090134 complex cortical dysplasia with other brain malformations 3 ISO RGD:735496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 3 PMID:23603762|PMID:25741868|PMID:27747449|PMID:28492532 12037187 KIF2A kinesin family member 2A gene DOID:10907 microcephaly ISO RGD:735496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12037187 KIF2A kinesin family member 2A gene DOID:1826 epilepsy ISO RGD:735496 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12037187 KIF2A kinesin family member 2A gene DOID:630 genetic disease ISO RGD:735496 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12037187 KIF2A kinesin family member 2A gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:735496 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 12037187 KIF2A kinesin family member 2A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12037218 ZKSCAN5 zinc finger with KRAB and SCAN domains 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12037218 ZKSCAN5 zinc finger with KRAB and SCAN domains 5 gene DOID:630 genetic disease ISO RGD:1322493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12037246 ZIC2 Zic family member 2 gene DOID:0080074 neural tube defect ISO RGD:1322491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15136147 12037246 ZIC2 Zic family member 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1322491 D RGD:7240710 20180130 OMIM 12037246 ZIC2 Zic family member 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1322491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:11285244|PMID:15590697|PMID:17274816|PMID:17576681|PMID:19177455|PMID:19955556|PMID:21638761|PMID:21940735|PMID:21990207|PMID:22847929|PMID:25741868|PMID:28492532|PMID:29770992|PMID:29992659|PMID:32022405|PMID:9536098|PMID:9771712 12037246 ZIC2 Zic family member 2 gene DOID:0110881 holoprosencephaly 1 ISO RGD:1322491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 1 PMID:22859937 12037246 ZIC2 Zic family member 2 gene DOID:14701 propionic acidemia ISO RGD:1322491 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 12037246 ZIC2 Zic family member 2 gene DOID:1561 cognitive disorder ISO RGD:1322492 D RGD:9068941 20200609 RGD PMID:22355535|REF_RGD_ID:11561947 12037246 ZIC2 Zic family member 2 gene DOID:4621 holoprosencephaly ISO RGD:1322491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Lobar holoprosencephaly PMID:25741868 12037246 ZIC2 Zic family member 2 gene DOID:5419 schizophrenia ISO RGD:1322492 D RGD:9068941 20220825 MouseDO OMIM:181500 12037246 ZIC2 Zic family member 2 gene DOID:630 genetic disease ISO RGD:1322491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15221788|PMID:15590697|PMID:19177455|PMID:25741868|PMID:25954003|PMID:27466203|PMID:27618451|PMID:28490743|PMID:28492532|PMID:29992973|PMID:32022405 12037246 ZIC2 Zic family member 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1322491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12037246 ZIC2 Zic family member 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17173048 12037246 ZIC2 Zic family member 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1322491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12037246 ZIC2 Zic family member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12037253 CCDC71L coiled-coil domain containing 71 like gene DOID:3007 breast ductal carcinoma ISO RGD:1602288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12037253 CCDC71L coiled-coil domain containing 71 like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12037253 CCDC71L coiled-coil domain containing 71 like gene DOID:630 genetic disease ISO RGD:1602288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12037258 SPTBN2 spectrin beta, non-erythrocytic 2 gene DOID:0050753 cerebellar ataxia ISO RGD:731487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 12037258 SPTBN2 spectrin beta, non-erythrocytic 2 gene DOID:0050882 spinocerebellar ataxia type 5 ISO RGD:731487 D RGD:7240710 20180130 OMIM 12037258 SPTBN2 spectrin beta, non-erythrocytic 2 gene DOID:0050882 spinocerebellar ataxia type 5 ISO RGD:731487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 5 PMID:16429157|PMID:20368622|PMID:20603325|PMID:22843192|PMID:22914369|PMID:25057192|PMID:25741868|PMID:25741869|PMID:25981959|PMID:26467025|PMID:26633542|PMID:28492532|PMID:29389947|PMID:29590070|PMID:31066025|PMID:31721007|PMID:33318253|PMID:33801522 12037258 SPTBN2 spectrin beta, non-erythrocytic 2 gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:731487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia PMID:26467025|PMID:28492532 12037258 SPTBN2 spectrin beta, non-erythrocytic 2 gene DOID:0080058 autosomal recessive spinocerebellar ataxia 14 ISO RGD:731487 D RGD:7240710 20180130 OMIM 12037258 SPTBN2 spectrin beta, non-erythrocytic 2 gene DOID:0080058 autosomal recessive spinocerebellar ataxia 14 ISO RGD:731487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 14 PMID:17940722|PMID:23236289|PMID:23838597|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29196973|PMID:29590070 12037258 SPTBN2 spectrin beta, non-erythrocytic 2 gene DOID:1059 intellectual disability ISO RGD:731487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 12037258 SPTBN2 spectrin beta, non-erythrocytic 2 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:731487 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:17940722|PMID:25741868|PMID:26467025|PMID:28492532 12037258 SPTBN2 spectrin beta, non-erythrocytic 2 gene DOID:630 genetic disease ISO RGD:731487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17121810|PMID:17940722|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29590070 12037258 SPTBN2 spectrin beta, non-erythrocytic 2 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:731487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12037258 SPTBN2 spectrin beta, non-erythrocytic 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:731487 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12037258 SPTBN2 spectrin beta, non-erythrocytic 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:731487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12037304 ZMYND8 zinc finger MYND-type containing 8 gene DOID:1059 intellectual disability ISO RGD:1319938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12037304 ZMYND8 zinc finger MYND-type containing 8 gene DOID:2234 focal epilepsy ISO RGD:1319938 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12037304 ZMYND8 zinc finger MYND-type containing 8 gene DOID:630 genetic disease ISO RGD:1319938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12037359 CLCA1 chloride channel accessory 1 gene DOID:10320 asbestosis ISO RGD:1314776 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:17637221|REF_RGD_ID:4145655 12037359 CLCA1 chloride channel accessory 1 gene DOID:1485 cystic fibrosis ISO RGD:1314775 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:respiratory system mucosa PMID:15218996|REF_RGD_ID:4145657 12037359 CLCA1 chloride channel accessory 1 gene DOID:2841 asthma ISO RGD:1314775 D RGD:9068941 20200609 RGD PMID:17898169|REF_RGD_ID:4145653 12037359 CLCA1 chloride channel accessory 1 gene DOID:2841 asthma ISO RGD:1314776 D RGD:9068941 20200609 RGD PMID:11296262|REF_RGD_ID:4145661 12037359 CLCA1 chloride channel accessory 1 gene DOID:2841 asthma susceptibility ISO RGD:1314775 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:15318163|REF_RGD_ID:4145656 12037359 CLCA1 chloride channel accessory 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1314775 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:14985398|REF_RGD_ID:1331524 12037359 CLCA1 chloride channel accessory 1 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1314775 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchus PMID:17637221|REF_RGD_ID:4145655 12037359 CLCA1 chloride channel accessory 1 gene DOID:630 genetic disease ISO RGD:1314775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12037378 STOML2 stomatin like 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1317972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12037378 STOML2 stomatin like 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1317972 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12037378 STOML2 stomatin like 2 gene DOID:0080942 anauxetic dysplasia ISO RGD:1317972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12037378 STOML2 stomatin like 2 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1317972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12037378 STOML2 stomatin like 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1317972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12037378 STOML2 stomatin like 2 gene DOID:2773 contact dermatitis ISO RGD:1317972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12037378 STOML2 stomatin like 2 gene DOID:630 genetic disease ISO RGD:1317972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12037378 STOML2 stomatin like 2 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1317972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12037378 STOML2 stomatin like 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12037378 STOML2 stomatin like 2 gene DOID:9870 galactosemia ISO RGD:1317972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12037396 PLEKHF2 pleckstrin homology and FYVE domain containing 2 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1323798 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant PMID:24442880|PMID:28492532 12037396 PLEKHF2 pleckstrin homology and FYVE domain containing 2 gene DOID:630 genetic disease ISO RGD:1323798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12037401 LOC100984164 olfactory receptor 1S1 gene DOID:1059 intellectual disability ISO RGD:1343888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12037401 LOC100984164 olfactory receptor 1S1 gene DOID:630 genetic disease ISO RGD:1343888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12037404 SLC24A1 solute carrier family 24 member 1 gene DOID:0050534 congenital stationary night blindness ISO RGD:736859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive PMID:28492532 12037404 SLC24A1 solute carrier family 24 member 1 gene DOID:0110868 congenital stationary night blindness 1D ISO RGD:736859 D RGD:7240710 20180130 OMIM 12037404 SLC24A1 solute carrier family 24 member 1 gene DOID:0110868 congenital stationary night blindness 1D ISO RGD:736859 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1D PMID:12037007|PMID:16199547|PMID:17576681|PMID:20850105|PMID:25741868|PMID:26822852|PMID:28492532|PMID:30902645|PMID:9536098 12037404 SLC24A1 solute carrier family 24 member 1 gene DOID:0110935 nemaline myopathy 6 ISO RGD:736859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12037404 SLC24A1 solute carrier family 24 member 1 gene DOID:10584 retinitis pigmentosa ISO RGD:736859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12037007|PMID:20850105|PMID:25741868|PMID:26822852|PMID:28492532 12037404 SLC24A1 solute carrier family 24 member 1 gene DOID:2717 Bloom syndrome ISO RGD:736859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12037404 SLC24A1 solute carrier family 24 member 1 gene DOID:630 genetic disease ISO RGD:736859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12037404 SLC24A1 solute carrier family 24 member 1 gene DOID:8501 fundus dystrophy ISO RGD:736859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12037007|PMID:20850105|PMID:25741868|PMID:26822852|PMID:28492532 12037404 SLC24A1 solute carrier family 24 member 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:620080 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cerebrum PMID:23564126|REF_RGD_ID:9685494 12037404 SLC24A1 solute carrier family 24 member 1 gene DOID:9256 colorectal cancer ISO RGD:736859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12037433 SZT2 SZT2 subunit of KICSTOR complex gene DOID:0080413 developmental and epileptic encephalopathy 18 ISO RGD:1603692 D RGD:7240710 20180130 OMIM 12037433 SZT2 SZT2 subunit of KICSTOR complex gene DOID:0080413 developmental and epileptic encephalopathy 18 ISO RGD:1603692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 18 PMID:16199547|PMID:17576681|PMID:23932106|PMID:25741868|PMID:26467025|PMID:27248490|PMID:28492532|PMID:28556953|PMID:29358611|PMID:30359774|PMID:30560016|PMID:30564332|PMID:30755392|PMID:30818181|PMID:32402703|PMID:35773235|PMID:9536098 12037433 SZT2 SZT2 subunit of KICSTOR complex gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1603692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868|PMID:28492532 12037433 SZT2 SZT2 subunit of KICSTOR complex gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12037433 SZT2 SZT2 subunit of KICSTOR complex gene DOID:1059 intellectual disability ISO RGD:1603692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12037433 SZT2 SZT2 subunit of KICSTOR complex gene DOID:11383 cryptorchidism ISO RGD:1603692 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cryptorchidism PMID:25741868|PMID:28492532|PMID:30564332|PMID:30755392|PMID:35773235 12037433 SZT2 SZT2 subunit of KICSTOR complex gene DOID:11832 visual epilepsy ISO RGD:1603692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:17576681|PMID:25741868|PMID:26467025|PMID:28491533|PMID:28492532|PMID:28556953|PMID:29358611|PMID:9536098 12037433 SZT2 SZT2 subunit of KICSTOR complex gene DOID:1826 epilepsy ISO RGD:1603692 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:17576681|PMID:25741868|PMID:26467025|PMID:28491533|PMID:28492532|PMID:28556953|PMID:29358611|PMID:9536098 12037433 SZT2 SZT2 subunit of KICSTOR complex gene DOID:1826 epilepsy ISO RGD:1603692 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12037433 SZT2 SZT2 subunit of KICSTOR complex gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1603692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:28492532|PMID:29358611 12037433 SZT2 SZT2 subunit of KICSTOR complex gene DOID:630 genetic disease ISO RGD:1603692 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23932106|PMID:25741868|PMID:26467025|PMID:27248490|PMID:28491533|PMID:28492532|PMID:28556953|PMID:29358611|PMID:30564332|PMID:9536098 12037433 SZT2 SZT2 subunit of KICSTOR complex gene DOID:9000983 Encephalocele ISO RGD:1603692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalocele PMID:23932106|PMID:25741868|PMID:28492532|PMID:31680349 12037433 SZT2 SZT2 subunit of KICSTOR complex gene DOID:9970 obesity ISO RGD:1603692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 12037514 FBXL19 F-box and leucine rich repeat protein 19 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1322203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12037514 FBXL19 F-box and leucine rich repeat protein 19 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1322203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 12037514 FBXL19 F-box and leucine rich repeat protein 19 gene DOID:630 genetic disease ISO RGD:1322203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12037514 FBXL19 F-box and leucine rich repeat protein 19 gene DOID:8893 psoriasis ISO RGD:1322203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953189 12037514 FBXL19 F-box and leucine rich repeat protein 19 gene DOID:9008 psoriatic arthritis ISO RGD:1322203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953189 12037529 FAM53A family with sequence similarity 53 member A gene DOID:1856 cherubism ISO RGD:1604984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12037529 FAM53A family with sequence similarity 53 member A gene DOID:630 genetic disease ISO RGD:1604984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12037535 CD72 CD72 molecule gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1320264 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12037535 CD72 CD72 molecule gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1320264 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12037535 CD72 CD72 molecule gene DOID:0080942 anauxetic dysplasia ISO RGD:1320264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12037535 CD72 CD72 molecule gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1320264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12037535 CD72 CD72 molecule gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1320264 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12037535 CD72 CD72 molecule gene DOID:630 genetic disease ISO RGD:1320264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12037535 CD72 CD72 molecule gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1320264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12037535 CD72 CD72 molecule gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320264 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12037535 CD72 CD72 molecule gene DOID:9870 galactosemia ISO RGD:1320264 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12037548 SAC3D1 SAC3 domain containing 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1607039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12037548 SAC3D1 SAC3 domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1607039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12037548 SAC3D1 SAC3 domain containing 1 gene DOID:1909 melanoma ISO RGD:1607039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12037548 SAC3D1 SAC3 domain containing 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1607039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12037548 SAC3D1 SAC3 domain containing 1 gene DOID:2746 glycogen storage disease V ISO RGD:1607039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12037548 SAC3D1 SAC3 domain containing 1 gene DOID:3070 high grade glioma ISO RGD:1607039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12037548 SAC3D1 SAC3 domain containing 1 gene DOID:630 genetic disease ISO RGD:1607039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12037553 ZSCAN30 zinc finger and SCAN domain containing 30 gene DOID:1059 intellectual disability ISO RGD:2290512 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12037553 ZSCAN30 zinc finger and SCAN domain containing 30 gene DOID:630 genetic disease ISO RGD:2290512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12037579 CD83 CD83 molecule gene DOID:37 skin disease ISO RGD:1320150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12037579 CD83 CD83 molecule gene DOID:630 genetic disease ISO RGD:1320150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12037579 CD83 CD83 molecule gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1320150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12037579 CD83 CD83 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:1320150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 12037579 CD83 CD83 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12037579 CD83 CD83 molecule gene DOID:9007964 Arsenic Poisoning ISO RGD:1320150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12037612 ANKRD55 ankyrin repeat domain 55 gene DOID:630 genetic disease ISO RGD:1605952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12037612 ANKRD55 ankyrin repeat domain 55 gene DOID:7148 rheumatoid arthritis ISO RGD:1605952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 12037612 ANKRD55 ankyrin repeat domain 55 gene DOID:9001341 Chloracne ISO RGD:1605952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 12037612 ANKRD55 ankyrin repeat domain 55 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12037628 DDX54 DEAD-box helicase 54 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1354287 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12037628 DDX54 DEAD-box helicase 54 gene DOID:0080204 renal hypoplasia ISO RGD:1354287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal hypoplasia PMID:31256877 12037628 DDX54 DEAD-box helicase 54 gene DOID:1059 intellectual disability ISO RGD:1354287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31256877 12037628 DDX54 DEAD-box helicase 54 gene DOID:11612 polycystic ovary syndrome ISO RGD:1354287 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12037628 DDX54 DEAD-box helicase 54 gene DOID:1826 epilepsy ISO RGD:1354287 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:31256877 12037628 DDX54 DEAD-box helicase 54 gene DOID:630 genetic disease ISO RGD:1354287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12037628 DDX54 DEAD-box helicase 54 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorders PMID:31256877 12037628 DDX54 DEAD-box helicase 54 gene DOID:9007188 Liver Neoplasms ISO RGD:1354287 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12037657 ZIC1 Zic family member 1 gene DOID:0050777 Joubert syndrome ISO RGD:735695 D RGD:9068941 20220825 MouseDO 12037657 ZIC1 Zic family member 1 gene DOID:2340 craniosynostosis ISO RGD:735694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12037657 ZIC1 Zic family member 1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:735694 D RGD:9068941 20200609 RGD PMID:15338008|REF_RGD_ID:1599905 12037657 ZIC1 Zic family member 1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:735695 D RGD:9068941 20220825 MouseDO OMIM:220200 12037657 ZIC1 Zic family member 1 gene DOID:630 genetic disease ISO RGD:735694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12037657 ZIC1 Zic family member 1 gene DOID:9002109 STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS ISO RGD:735694 D RGD:7240710 20200226 OMIM 12037657 ZIC1 Zic family member 1 gene DOID:9002109 STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS ISO RGD:735694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Structural brain anomalies with impaired intellectual development and craniosynostosis PMID:26340333|PMID:30391508 12037657 ZIC1 Zic family member 1 gene DOID:9003835 Craniosynostosis 6 ISO RGD:735694 D RGD:7240710 20180130 OMIM 12037657 ZIC1 Zic family member 1 gene DOID:9003835 Craniosynostosis 6 ISO RGD:735694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis 6 PMID:25741868|PMID:26340333 12037664 GFPT1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:0080000 muscular disease ISO RGD:1353383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29905857 12037664 GFPT1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:0110660 congenital myasthenic syndrome 12 ISO RGD:1353383 D RGD:7240710 20180130 OMIM 12037664 GFPT1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:0110660 congenital myasthenic syndrome 12 ISO RGD:1353383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 12 | ClinVar Annotator: match by term: Myasthenia, congenital, 12, with tubular aggregates PMID:12467753|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21310273|PMID:23488891|PMID:23569079|PMID:23794683|PMID:24033266|PMID:25741868|PMID:25765662|PMID:26467025|PMID:28464723|PMID:28492532|PMID:28712002|PMID:29054425|PMID:30635494|PMID:32140910|PMID:32403337|PMID:32528171|PMID:32754643|PMID:8664562|PMID:9536098 12037664 GFPT1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:1353383 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency PMID:23794683|PMID:25741868|PMID:28464723|PMID:28492532|PMID:29054425|PMID:32403337|PMID:32528171 12037664 GFPT1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:1168 familial hyperlipidemia ISO RGD:1549703 D RGD:9068941 20200609 RGD mRNA:increased expression:gastrocnemius PMID:16555472|REF_RGD_ID:1624365 12037664 GFPT1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:2018 hyperinsulinism ISO RGD:1549703 D RGD:9068941 20200609 RGD mRNA:increased expression:gastrocnemius PMID:16555472|REF_RGD_ID:1624365 12037664 GFPT1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1353383 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:21310273|PMID:23488891|PMID:23794683|PMID:24033266|PMID:25741868|PMID:25765662|PMID:28492532|PMID:28712002|PMID:29054425 12037664 GFPT1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:630 genetic disease ISO RGD:1353383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12037664 GFPT1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1353383 D RGD:9068941 20200609 RGD PMID:9519709|REF_RGD_ID:2313353 12037664 GFPT1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1549703 D RGD:9068941 20200609 RGD protein:decreased expression:epididymal fat pad, liver, skeletal muscle PMID:7589852|REF_RGD_ID:2313355 12037664 GFPT1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1353383 D RGD:9068941 20200609 RGD PMID:11118009|REF_RGD_ID:1625423 12037664 GFPT1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:9007692 Insulin Resistance ISO RGD:1353383 D RGD:9068941 20200609 RGD PMID:11118009|REF_RGD_ID:1625423 12037664 GFPT1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353383 D RGD:9068941 20200609 RGD PMID:17574229|REF_RGD_ID:2313352 12037664 GFPT1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:9970 obesity ISO RGD:1353383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12037664 GFPT1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:9970 obesity ISO RGD:1353383 D RGD:9068941 20200609 RGD PMID:11118009|REF_RGD_ID:1625423 12037692 IL27 interleukin 27 gene DOID:0060496 respiratory allergy ISO RGD:1615620 D RGD:9068941 20200609 RGD PMID:20817868|REF_RGD_ID:4145651 12037692 IL27 interleukin 27 gene DOID:10303 sialadenitis exacerbates ISO RGD:1615620 D RGD:9068941 20210423 RGD mRNA:increased expression:saliva-secreting gland (mouse) PMID:32307922|REF_RGD_ID:126790516 12037692 IL27 interleukin 27 gene DOID:106 pleural tuberculosis ISO RGD:1343577 D RGD:9068941 20210430 RGD associated with Pleural Effusion;protein:increased expression:pleural fluid (human) PMID:23962500|PMID:25753767|PMID:28844060|REF_RGD_ID:126790505|REF_RGD_ID:126790517|REF_RGD_ID:126790523 12037692 IL27 interleukin 27 gene DOID:106 pleural tuberculosis exacerbates ISO RGD:1343577 D RGD:9068941 20210430 RGD protein:increased expression:alveolar system (human) PMID:31819557|REF_RGD_ID:126790549 12037692 IL27 interleukin 27 gene DOID:10887 lepromatous leprosy ameliorates ISO RGD:1343577 D RGD:9068941 20210430 RGD mRNA:decreased expression:skin of body (human) PMID:26030183|REF_RGD_ID:126790539 12037692 IL27 interleukin 27 gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:1343577 D RGD:9068941 20210430 RGD mRNA,protein:decreased expression:peripheral blood mononuclear cell, blood serum (human)" PMID:33280050|REF_RGD_ID:126790550 12037692 IL27 interleukin 27 gene DOID:1123 spondyloarthropathy ISO RGD:11440 D RGD:9068941 20200609 RGD PMID:29494633|REF_RGD_ID:14995936 12037692 IL27 interleukin 27 gene DOID:12365 malaria ISO RGD:1615620 D RGD:9068941 20210423 RGD PMID:24522137|REF_RGD_ID:126790512 12037692 IL27 interleukin 27 gene DOID:12365 malaria ameliorates ISO RGD:1615620 D RGD:9068941 20210430 RGD PMID:26968425|REF_RGD_ID:11530371 12037692 IL27 interleukin 27 gene DOID:1273 respiratory syncytial virus infectious disease ameliorates ISO RGD:1615620 D RGD:9068941 20210430 RGD PMID:22301139|REF_RGD_ID:126790525 12037692 IL27 interleukin 27 gene DOID:14115 toxic shock syndrome ISO RGD:1615620 D RGD:9068941 20210430 RGD protein, mRNA:increased expression:blood serum, spleen (mouse) PMID:20435892|REF_RGD_ID:126790535 12037692 IL27 interleukin 27 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1343577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 12037692 IL27 interleukin 27 gene DOID:1724 duodenal ulcer ISO RGD:1343577 D RGD:9068941 20210430 RGD associated with Helicobacter Infections;protein:increased expression:blood serum (human) PMID:31702083|REF_RGD_ID:126790551 12037692 IL27 interleukin 27 gene DOID:1936 atherosclerosis ameliorates ISO RGD:1615620 D RGD:9068941 20210423 RGD PMID:23729211|REF_RGD_ID:39456136 12037692 IL27 interleukin 27 gene DOID:2043 hepatitis B ISO RGD:1343577 D RGD:9068941 20210423 RGD mRNA:increased expression:blood plasma (human) PMID:26925776|REF_RGD_ID:126790497 12037692 IL27 interleukin 27 gene DOID:2043 hepatitis B ISO RGD:1343577 D RGD:9068941 20210430 RGD protein:increased expression:blood serum (human) PMID:22766719|REF_RGD_ID:126790543 12037692 IL27 interleukin 27 gene DOID:2043 hepatitis B exacerbates ISO RGD:1343577 D RGD:9068941 20210423 RGD protein:increased expression:blood serum (human) PMID:19081304|REF_RGD_ID:39128258 12037692 IL27 interleukin 27 gene DOID:2841 asthma ISO RGD:1343577 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:20817868|REF_RGD_ID:4145651 12037692 IL27 interleukin 27 gene DOID:2841 asthma ISO RGD:1615620 D RGD:9068941 20200609 RGD PMID:17878337|PMID:19542437|REF_RGD_ID:5128479|REF_RGD_ID:5128491 12037692 IL27 interleukin 27 gene DOID:2841 asthma susceptibility ISO RGD:1343577 D RGD:9068941 20200609 RGD DNA:SNP: :g.-964A>G (human) PMID:17318299|REF_RGD_ID:5128485 12037692 IL27 interleukin 27 gene DOID:2841 asthma treatment ISO RGD:1615620 D RGD:9068941 20210423 RGD PMID:26595888|REF_RGD_ID:11076728 12037692 IL27 interleukin 27 gene DOID:2957 pulmonary tuberculosis ISO RGD:1343577 D RGD:9068941 20210430 RGD DNA:SNPs:promoter,exons:-964A>G, 2905T>G, 4730T>C (rs153109, rs17855750, rs181206) (human) PMID:30948177|REF_RGD_ID:39456132 12037692 IL27 interleukin 27 gene DOID:2957 pulmonary tuberculosis exacerbates ISO RGD:1343577 D RGD:9068941 20210423 RGD DNA:SNPs:promoter, exon:-964A>G, 2905T>G (human) PMID:31949807|REF_RGD_ID:126790508 12037692 IL27 interleukin 27 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1343577 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-964A>G, 2905T>G (human) PMID:18554158|REF_RGD_ID:5128484 12037692 IL27 interleukin 27 gene DOID:321 tropical spastic paraparesis ISO RGD:1343577 D RGD:9068941 20210430 RGD associated with HTLV-I Infections;mRNA:decreased expression:blood (human) PMID:24041428|REF_RGD_ID:126790519 12037692 IL27 interleukin 27 gene DOID:3944 Arenaviridae infectious disease ISO RGD:1615620 D RGD:9068941 20210430 RGD mRNA, protein:increased expression:spleen (mouse) PMID:29593047|REF_RGD_ID:126790521 12037692 IL27 interleukin 27 gene DOID:399 tuberculosis ISO RGD:1343577 D RGD:9068941 20210423 RGD associated with Pleural Effusion;protein:increased expression:pleural effusion (human) PMID:25511588|REF_RGD_ID:126790514 12037692 IL27 interleukin 27 gene DOID:399 tuberculosis exacerbates ISO RGD:1343577 D RGD:9068941 20210430 RGD mRNA:increased expression:blood (human) PMID:26282876|REF_RGD_ID:11086047 12037692 IL27 interleukin 27 gene DOID:418 systemic scleroderma ISO RGD:1343577 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20705635|REF_RGD_ID:5128477 12037692 IL27 interleukin 27 gene DOID:5082 liver cirrhosis ISO RGD:1343577 D RGD:9068941 20210423 RGD associated with hepatitis B;protein:increased expression:blood serum (human) PMID:22230324|REF_RGD_ID:126790507 12037692 IL27 interleukin 27 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1343577 D RGD:9068941 20210430 RGD associated with hepatitis C;protein:increased expression:blood plasma (human) PMID:24816922|REF_RGD_ID:126790553 12037692 IL27 interleukin 27 gene DOID:526 human immunodeficiency virus infectious disease ameliorates ISO RGD:1343577 D RGD:9068941 20210430 RGD protein:increased expression:blood plasma (human) PMID:28338007|REF_RGD_ID:126790518 12037692 IL27 interleukin 27 gene DOID:5419 schizophrenia ISO RGD:1343577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12037692 IL27 interleukin 27 gene DOID:552 pneumonia ISO RGD:1615620 D RGD:9068941 20200609 RGD PMID:19124731|REF_RGD_ID:5128483 12037692 IL27 interleukin 27 gene DOID:630 genetic disease ISO RGD:1343577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12037692 IL27 interleukin 27 gene DOID:750 peptic ulcer disease ISO RGD:1343577 D RGD:9068941 20210423 RGD associated with Helicobacter infections;protein:increased expression:blood serum (human) PMID:21791025|REF_RGD_ID:126790506 12037692 IL27 interleukin 27 gene DOID:8515 Cor pulmonale disease_progression ISO RGD:1343577 D RGD:9068941 20210423 RGD associated with hand, foot and mouth disease;protein:altered expression:blood��serum (human) PMID:27403033|REF_RGD_ID:126790503 12037692 IL27 interleukin 27 gene DOID:8568 infectious mononucleosis ISO RGD:1343577 D RGD:9068941 20210430 RGD protein:increased expression:blood serum (human) PMID:33571934|REF_RGD_ID:126790542 12037692 IL27 interleukin 27 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1343577 D RGD:9068941 20210430 RGD associated with hepatitis B;protein:increased expression:blood serum (human) PMID:23890319|PMID:31198792|REF_RGD_ID:126790526|REF_RGD_ID:126790529 12037692 IL27 interleukin 27 gene DOID:9000371 influenza A ISO RGD:1343577 D RGD:9068941 20210423 RGD protein:increased expression:blood serum (human) PMID:22343630|REF_RGD_ID:126790513 12037692 IL27 interleukin 27 gene DOID:9000469 Viral Myocarditis ameliorates ISO RGD:1615620 D RGD:9068941 20210430 RGD PMID:26578236|REF_RGD_ID:126790546 12037692 IL27 interleukin 27 gene DOID:9000989 Pneumococcal Infections ISO RGD:1615620 D RGD:9068941 20210430 RGD associated with influenza A;protein:increased expression:lung (mouse) PMID:24408967|REF_RGD_ID:11556418 12037692 IL27 interleukin 27 gene DOID:9001934 Neonatal Sepsis ISO RGD:1343577 D RGD:9068941 20210507 RGD protien:increased expression:blood serum (human) PMID:22766719|REF_RGD_ID:126790543 12037692 IL27 interleukin 27 gene DOID:9001934 Neonatal Sepsis ISO RGD:1615620 D RGD:9068941 20210430 RGD protein:increased expression:blood serum (mouse) PMID:31818960|REF_RGD_ID:126790524 12037692 IL27 interleukin 27 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343577 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21801027|PMID:24028178 12037692 IL27 interleukin 27 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1615620 D RGD:9068941 20210430 RGD protein:decreased expression:blood serum (mouse) PMID:33403844|REF_RGD_ID:126790527 12037692 IL27 interleukin 27 gene DOID:9004017 Chronic Hepatitis C ameliorates ISO RGD:1343577 D RGD:9068941 20210430 RGD DNA:SNP:promoter:-964A>G (rs153109) (human) PMID:27221901|REF_RGD_ID:126790538 12037692 IL27 interleukin 27 gene DOID:9004484 Sepsis ISO RGD:1343577 D RGD:9068941 20210430 RGD mRNA:increased expression:blood, leukocyte (human) PMID:18227999|REF_RGD_ID:126790544 12037692 IL27 interleukin 27 gene DOID:9004484 Sepsis ISO RGD:1615620 D RGD:9068941 20210430 RGD associated with Herpesviridae Infections;protein:increased expression:blood serum, spleen (mouse) PMID:20493722|REF_RGD_ID:126790537 12037692 IL27 interleukin 27 gene DOID:9004484 Sepsis disease_progression ISO RGD:1343577 D RGD:9068941 20210423 RGD DNA:SNP:promoter:-964A>G (rs153109) (human) PMID:30268141|REF_RGD_ID:126790509 12037692 IL27 interleukin 27 gene DOID:9004484 Sepsis exacerbates ISO RGD:1343577 D RGD:9068941 20210423 RGD protein:increased expression:blood (human) PMID:22965735|REF_RGD_ID:126790502 12037692 IL27 interleukin 27 gene DOID:9004484 Sepsis severity ISO RGD:1615620 D RGD:9068941 20210430 RGD PMID:26767500|REF_RGD_ID:126790536 12037692 IL27 interleukin 27 gene DOID:9004945 Ocular Toxoplasmosis disease_progression ISO RGD:1615620 D RGD:9068941 20210423 RGD mRNA:increased expression:eye, cervical lymph node (mouse) PMID:29779048|REF_RGD_ID:126790500 12037692 IL27 interleukin 27 gene DOID:9005036 Bacteremia ISO RGD:1343577 D RGD:9068941 20210423 RGD protein:increased expression:blood serum (human) PMID:26514771|REF_RGD_ID:126790515 12037692 IL27 interleukin 27 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:1615620 D RGD:9068941 20210423 RGD protein:increased expression:spleen, saliva-secreting gland (mouse) PMID:27926930|REF_RGD_ID:126790498 12037692 IL27 interleukin 27 gene DOID:9006732 Clostridium Infections ISO RGD:1343577 D RGD:9068941 20210423 RGD associated with diarrhea;protein:increased expression:blood��serum, feces (human) PMID:29140433|REF_RGD_ID:126790495 12037692 IL27 interleukin 27 gene DOID:9007367 Septic Peritonitis exacerbates ISO RGD:1615620 D RGD:9068941 20210423 RGD PMID:16880260|REF_RGD_ID:126790504 12037692 IL27 interleukin 27 gene DOID:9007417 Pseudomonas Infections ameliorates ISO RGD:1615620 D RGD:9068941 20210430 RGD associated with Sepsis PMID:25074706|REF_RGD_ID:126790541 12037692 IL27 interleukin 27 gene DOID:9065 leishmaniasis exacerbates ISO RGD:1615620 D RGD:9068941 20210430 RGD PMID:25466588|REF_RGD_ID:126790552 12037692 IL27 interleukin 27 gene DOID:9146 visceral leishmaniasis ISO RGD:1615620 D RGD:9068941 20210430 RGD mRNA, protein:increased expression:spleen, liver (mouse) PMID:27245409|REF_RGD_ID:126790520 12037692 IL27 interleukin 27 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1343577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19430480 12037692 IL27 interleukin 27 gene DOID:9965 toxoplasmosis ISO RGD:1615620 D RGD:9068941 20210430 RGD PMID:22981537|REF_RGD_ID:126790522 12037692 IL27 interleukin 27 gene DOID:9965 toxoplasmosis susceptibility ISO RGD:1615620 D RGD:9068941 20210423 RGD PMID:31548322|REF_RGD_ID:126790501 12037699 RPRD1B regulation of nuclear pre-mRNA domain containing 1B gene DOID:2234 focal epilepsy ISO RGD:1312424 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12037699 RPRD1B regulation of nuclear pre-mRNA domain containing 1B gene DOID:630 genetic disease ISO RGD:1312424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12037710 SIAH3 siah E3 ubiquitin protein ligase family member 3 gene DOID:630 genetic disease ISO RGD:1603255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12037711 LOC100995139 amphiphysin gene DOID:0080600 COVID-19 ISO RGD:733884 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12037711 LOC100995139 amphiphysin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12037711 LOC100995139 amphiphysin gene DOID:630 genetic disease ISO RGD:733884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12037744 POU3F4 POU class 3 homeobox 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12037744 POU3F4 POU class 3 homeobox 4 gene DOID:0111737 X-linked deafness 2 ISO RGD:732459 D RGD:7240710 20180130 OMIM 12037744 POU3F4 POU class 3 homeobox 4 gene DOID:0111737 X-linked deafness 2 ISO RGD:732459 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, X-linked 2 | ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear PMID:1783396|PMID:19671658|PMID:19930154|PMID:23076972|PMID:23606368|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29287890|PMID:30176854|PMID:31690835|PMID:31786483|PMID:35802133|PMID:36633841|PMID:6662621|PMID:7581392|PMID:7839145|PMID:9298820 12037744 POU3F4 POU class 3 homeobox 4 gene DOID:12849 autistic disorder ISO RGD:732459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12037744 POU3F4 POU class 3 homeobox 4 gene DOID:3070 high grade glioma ISO RGD:732459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12037744 POU3F4 POU class 3 homeobox 4 gene DOID:630 genetic disease ISO RGD:732459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 12037744 POU3F4 POU class 3 homeobox 4 gene DOID:9008681 Deafness ISO RGD:732459 D RGD:9068941 20200609 RGD PMID:7839145|PMID:9298820|REF_RGD_ID:1599155|REF_RGD_ID:1599156 12037749 RNF112 ring finger protein 112 gene DOID:0050777 Joubert syndrome ISO RGD:68995 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12037749 RNF112 ring finger protein 112 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:68995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12037749 RNF112 ring finger protein 112 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:68995 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12037749 RNF112 ring finger protein 112 gene DOID:12849 autistic disorder ISO RGD:68995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12037749 RNF112 ring finger protein 112 gene DOID:630 genetic disease ISO RGD:68995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12037749 RNF112 ring finger protein 112 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:68995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 12037804 DNAH10 dynein axonemal heavy chain 10 gene DOID:0060224 atrial fibrillation ISO RGD:733008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12037804 DNAH10 dynein axonemal heavy chain 10 gene DOID:0111910 spermatogenic failure ISO RGD:733009 D RGD:9068941 20220825 MouseDO 12037804 DNAH10 dynein axonemal heavy chain 10 gene DOID:0112336 spermatogenic failure 56 ISO RGD:733008 D RGD:7240710 20210908 OMIM 12037804 DNAH10 dynein axonemal heavy chain 10 gene DOID:0112336 spermatogenic failure 56 ISO RGD:733008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 56 PMID:25741868|PMID:34237282 12037804 DNAH10 dynein axonemal heavy chain 10 gene DOID:12336 male infertility ISO RGD:733008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 12037804 DNAH10 dynein axonemal heavy chain 10 gene DOID:630 genetic disease ISO RGD:733008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12037888 AIM2 absent in melanoma 2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1316387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12037888 AIM2 absent in melanoma 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1316387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12037888 AIM2 absent in melanoma 2 gene DOID:2377 multiple sclerosis ISO RGD:1316387 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 12037888 AIM2 absent in melanoma 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 12037888 AIM2 absent in melanoma 2 gene DOID:630 genetic disease ISO RGD:1316387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12037888 AIM2 absent in melanoma 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12037904 SMC2 structural maintenance of chromosomes 2 gene DOID:1059 intellectual disability ISO RGD:1313128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12037904 SMC2 structural maintenance of chromosomes 2 gene DOID:234 colon adenocarcinoma severity ISO RGD:1313128 D RGD:9068941 20220224 RGD human cell line in a mouse model PMID:23095742|REF_RGD_ID:151356955 12037904 SMC2 structural maintenance of chromosomes 2 gene DOID:630 genetic disease ISO RGD:1313128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12037904 SMC2 structural maintenance of chromosomes 2 gene DOID:9000027 Microsatellite Instability ISO RGD:1313128 D RGD:9068941 20220224 RGD assoc. w/gastric cancer;DNA:frameshift mutations:exon 6, exon 17:K188fsX5, T751fsX9 (human) PMID:24483990|REF_RGD_ID:151356954 12037904 SMC2 structural maintenance of chromosomes 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12037904 SMC2 structural maintenance of chromosomes 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1313128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12037904 SMC2 structural maintenance of chromosomes 2 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1313128 D RGD:9068941 20220224 RGD mRNA:decreased expression:colorectum (human) PMID:31357676|REF_RGD_ID:151356956 12037958 TRAPPC12 trafficking protein particle complex subunit 12 gene DOID:0111881 Diamond-Blackfan anemia 8 ISO RGD:1343529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 PMID:28492532 12037958 TRAPPC12 trafficking protein particle complex subunit 12 gene DOID:10908 hydrocephalus ISO RGD:1343529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe hydrocephalus 12037958 TRAPPC12 trafficking protein particle complex subunit 12 gene DOID:630 genetic disease ISO RGD:1343529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:28777934|PMID:32369837 12037958 TRAPPC12 trafficking protein particle complex subunit 12 gene DOID:9002202 Opsismodysplasia ISO RGD:1343529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Opsismodysplasia PMID:28777934 12037958 TRAPPC12 trafficking protein particle complex subunit 12 gene DOID:9008447 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY ISO RGD:1343529 D RGD:7240710 20190315 OMIM 12037958 TRAPPC12 trafficking protein particle complex subunit 12 gene DOID:9008447 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY ISO RGD:1343529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | ClinVar Annotator: match by term: Progressive childhood encephalopathy PMID:17576681|PMID:25614871|PMID:25741868|PMID:28492532|PMID:28777934|PMID:32347653|PMID:32369837|PMID:9536098 12037991 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:0050451 Brugada syndrome ISO RGD:1350483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:25741868 12037991 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:0050700 cardiomyopathy ISO RGD:1350483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 12037991 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:0060170 generalized epilepsy with febrile seizures plus ISO RGD:1350483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15710580|PMID:15857929|PMID:16205844|PMID:17020904|PMID:17928445|PMID:18941776|PMID:20437590|PMID:20628201|PMID:206282012|PMID:21994374|PMID:22292491|PMID:22425777|PMID:23527921|PMID:23584539|PMID:24065921|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24747835|PMID:25741868|PMID:25827112|PMID:26467025|PMID:27216889|PMID:27277800|PMID:28331474|PMID:28492532|PMID:28717674|PMID:29056246|PMID:32466254|PMID:5421039|PMID:9461582|PMID:9539778|PMID:9697698|PMID:9894880 12037991 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:0080422 Dravet syndrome ISO RGD:1350483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 12037991 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:0080455 developmental and epileptic encephalopathy 52 ISO RGD:1350483 D RGD:7240710 20190315 OMIM 12037991 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:0080455 developmental and epileptic encephalopathy 52 ISO RGD:1350483 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 52 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 52 PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15710580|PMID:15857929|PMID:16205844|PMID:17020904|PMID:17629415|PMID:17928445|PMID:18941776|PMID:19710327|PMID:19808477|PMID:20437590|PMID:20628201|PMID:206282012|PMID:21703448|PMID:21994374|PMID:22155597|PMID:22155598|PMID:22284586|PMID:22292491|PMID:22425777|PMID:22840528|PMID:23148524|PMID:23182416|PMID:23414114|PMID:23465283|PMID:23527921|PMID:23584539|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24065921|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24747835|PMID:25253298|PMID:25741868|PMID:25827112|PMID:26467025|PMID:26498160|PMID:27216889|PMID:27277800|PMID:27435932|PMID:27896052|PMID:28218389|PMID:28331474|PMID:28341588|PMID:28492532|PMID:28681755|PMID:28717674|PMID:28837624|PMID:29056246|PMID:29655203|PMID:29758173|PMID:31069529|PMID:31980526|PMID:32192759|PMID:32466254|PMID:5421039|PMID:9461582|PMID:9539778|PMID:9697698|PMID:9894880 12037991 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1350483 D RGD:7240710 20180130 OMIM 12037991 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1350483 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15671291|PMID:15710580|PMID:15857929|PMID:16199547|PMID:16205844|PMID:17020904|PMID:17576681|PMID:17604911|PMID:17629415|PMID:17928445|PMID:18464934|PMID:18941776|PMID:19522081|PMID:19710327|PMID:19808477|PMID:20226894|PMID:20437590|PMID:20628201|PMID:206282012|PMID:20662403|PMID:21040232|PMID:21703448|PMID:21994374|PMID:22155597|PMID:22155598|PMID:22247482|PMID:22284586|PMID:22292491|PMID:22425777|PMID:22840528|PMID:22987075|PMID:23182416|PMID:23414114|PMID:23465283|PMID:23527921|PMID:23584539|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24065921|PMID:24529773|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24662403|PMID:24747835|PMID:24848745|PMID:24981977|PMID:25253298|PMID:25668026|PMID:25741868|PMID:25827112|PMID:25998140|PMID:26042039|PMID:26129877|PMID:26467025|PMID:26498160|PMID:26704558|PMID:27207958|PMID:27216889|PMID:27277800|PMID:27435932|PMID:27707468|PMID:27896052|PMID:28074886|PMID:28331474|PMID:28341588|PMID:28449774|PMID:28488083|PMID:28492532|PMID:28600387|PMID:28681755|PMID:28717674|PMID:28726809|PMID:28837624|PMID:29056246|PMID:29358611|PMID:29572929|PMID:29655203|PMID:29758173|PMID:29915715|PMID:29924869|PMID:29992740|PMID:30182498|PMID:30660056|PMID:31069529|PMID:31465153|PMID:31709768|PMID:31729702|PMID:31737628|PMID:31980526|PMID:32192759|PMID:32369273|PMID:32466254|PMID:32613771|PMID:32651551|PMID:33552729|PMID:33901312|PMID:5421039|PMID:9461582|PMID:9536098|PMID:9539778|PMID:9697698|PMID:9894880 12037991 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1350483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12037991 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:0111302 generalized epilepsy with febrile seizures plus 1 ISO RGD:1350483 D RGD:7240710 20180130 OMIM 12037991 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:0111302 generalized epilepsy with febrile seizures plus 1 ISO RGD:1350483 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1 PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15671291|PMID:15710580|PMID:15857929|PMID:16205844|PMID:17020904|PMID:17604911|PMID:17629415|PMID:17928445|PMID:18941776|PMID:19522081|PMID:19710327|PMID:19808477|PMID:20226894|PMID:20437590|PMID:20628201|PMID:206282012|PMID:20662403|PMID:21703448|PMID:21994374|PMID:22155597|PMID:22155598|PMID:22284586|PMID:22292491|PMID:22425777|PMID:22840528|PMID:23182416|PMID:23414114|PMID:23465283|PMID:23527921|PMID:23584539|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24065921|PMID:24529773|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24662403|PMID:24747835|PMID:25253298|PMID:25668026|PMID:25741868|PMID:25827112|PMID:26042039|PMID:26467025|PMID:26498160|PMID:26704558|PMID:27216889|PMID:27277800|PMID:27435932|PMID:27896052|PMID:28218389|PMID:28331474|PMID:28341588|PMID:28492532|PMID:28681755|PMID:28717674|PMID:28837624|PMID:29056246|PMID:29655203|PMID:29758173|PMID:31069529|PMID:31465153|PMID:31709768|PMID:31980526|PMID:32192759|PMID:32369273|PMID:32466254|PMID:32651551|PMID:5421039|PMID:9461582|PMID:9539778|PMID:9697698|PMID:9894880 12037991 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:10273 heart conduction disease ISO RGD:1350483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conduction system disorder PMID:18464934 12037991 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:11832 visual epilepsy ISO RGD:1350483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15671291|PMID:15710580|PMID:15857929|PMID:16205844|PMID:17020904|PMID:17928445|PMID:18941776|PMID:19522081|PMID:19710327|PMID:20226894|PMID:20437590|PMID:20628201|PMID:206282012|PMID:20662403|PMID:21994374|PMID:22292491|PMID:22425777|PMID:23182416|PMID:23527921|PMID:23584539|PMID:23861362|PMID:24065921|PMID:24529773|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24662403|PMID:24747835|PMID:25253298|PMID:25326637|PMID:25668026|PMID:25741868|PMID:25827112|PMID:26042039|PMID:26467025|PMID:27207958|PMID:27216889|PMID:27277800|PMID:28331474|PMID:28492532|PMID:28837624|PMID:5421039|PMID:9461582|PMID:9539778|PMID:9697698|PMID:9894880 12037991 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:1825 childhood absence epilepsy ISO RGD:1350483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood absence epilepsy PMID:25741868|PMID:28492532 12037991 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:1826 epilepsy ISO RGD:1350483 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15671291|PMID:15710580|PMID:15857929|PMID:16205844|PMID:17020904|PMID:17928445|PMID:18941776|PMID:19522081|PMID:19710327|PMID:20226894|PMID:20437590|PMID:20628201|PMID:206282012|PMID:20662403|PMID:21994374|PMID:22292491|PMID:22425777|PMID:23182416|PMID:23527921|PMID:23584539|PMID:23861362|PMID:24065921|PMID:24529773|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24662403|PMID:24747835|PMID:25253298|PMID:25668026|PMID:25741868|PMID:25827112|PMID:26042039|PMID:26467025|PMID:27207958|PMID:27216889|PMID:27277800|PMID:28331474|PMID:28492532|PMID:28717674|PMID:28837624|PMID:29056246|PMID:32466254|PMID:5421039|PMID:9461582|PMID:9539778|PMID:9697698|PMID:9894880 12037991 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:1826 epilepsy ISO RGD:1350483 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Seizure PMID:15671291|PMID:19522081|PMID:19710327|PMID:20226894|PMID:20662403|PMID:23861362|PMID:24529773|PMID:24662403|PMID:25253298|PMID:25668026|PMID:25741868|PMID:26042039|PMID:26467025|PMID:27207958|PMID:28492532 12037991 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:1826 epilepsy ISO RGD:1350483 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Seizure PMID:15671291|PMID:19522081|PMID:19710327|PMID:20226894|PMID:20662403|PMID:23861362|PMID:24529773|PMID:24662403|PMID:25253298|PMID:25668026|PMID:25741868|PMID:26042039|PMID:26467025|PMID:27207958|PMID:28492532|PMID:28681755 12037991 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:2843 long QT syndrome ISO RGD:1350483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:15671291|PMID:19522081|PMID:23861362|PMID:24529773|PMID:25668026|PMID:25741868|PMID:26042039|PMID:26467025|PMID:28492532 12037991 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1350483 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:28492532|PMID:29358611|PMID:29758173 12037991 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:630 genetic disease ISO RGD:1350483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12011299|PMID:19522081|PMID:24662403|PMID:25741868|PMID:28492532|PMID:29992740|PMID:31737628|PMID:9461582|PMID:9697698 12037991 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1350483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23861362|PMID:24033266|PMID:28492532 12037991 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1350483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:22987075|PMID:23861362|PMID:28492532|PMID:28600387 12037991 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:9000543 Death ISO RGD:1350483 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Death in early adulthood PMID:19808477|PMID:24033266|PMID:24055113|PMID:25741868|PMID:27435932|PMID:28492532 12037991 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:9002996 Familial Atrial Fibrillation 13 ISO RGD:1350483 D RGD:7240710 20180130 OMIM 12037991 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:9002996 Familial Atrial Fibrillation 13 ISO RGD:1350483 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 13 PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15710580|PMID:15857929|PMID:16205844|PMID:17020904|PMID:17629415|PMID:17928445|PMID:18941776|PMID:19710327|PMID:19808477|PMID:20437590|PMID:20628201|PMID:206282012|PMID:21703448|PMID:21994374|PMID:22155597|PMID:22155598|PMID:22284586|PMID:22292491|PMID:22425777|PMID:22840528|PMID:23182416|PMID:23414114|PMID:23465283|PMID:23527921|PMID:23584539|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24065921|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24747835|PMID:25253298|PMID:25741868|PMID:25827112|PMID:26467025|PMID:26498160|PMID:27216889|PMID:27277800|PMID:27435932|PMID:27896052|PMID:28331474|PMID:28341588|PMID:28492532|PMID:28681755|PMID:28717674|PMID:28837624|PMID:29056246|PMID:29655203|PMID:29758173|PMID:31069529|PMID:31980526|PMID:32192759|PMID:32466254|PMID:5421039|PMID:9461582|PMID:9539778|PMID:9697698|PMID:9894880 12037991 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:9007 sudden infant death syndrome ISO RGD:1350483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22155597 12037991 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:9007956 Febrile Seizures ISO RGD:1350483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25362483 12037991 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3631 D RGD:9068941 20200609 RGD mRNA:increased expression:heart ventricle PMID:22581745|REF_RGD_ID:6484255 12038006 SMTN smoothelin gene DOID:0080600 COVID-19 ISO RGD:1320987 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12038006 SMTN smoothelin gene DOID:630 genetic disease ISO RGD:1320987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038059 FBXW12 F-box and WD repeat domain containing 12 gene DOID:630 genetic disease ISO RGD:1352427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038059 FBXW12 F-box and WD repeat domain containing 12 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1352427 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12038072 SRPRB SRP receptor subunit beta gene DOID:630 genetic disease ISO RGD:1312294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038072 SRPRB SRP receptor subunit beta gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1312294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:20203246|REF_RGD_ID:5135461 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNPs: :3050G>C, 8473C>T (human) PMID:21319594|REF_RGD_ID:5135280 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:731006 D RGD:9068941 20200609 RGD protein:decreased expression:lung: PMID:14511257|REF_RGD_ID:5135507 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0050424 familial adenomatous polyposis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17942926 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11820457 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0050700 cardiomyopathy ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11978490 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0050848 obstructive sleep apnea ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell PMID:18413499|REF_RGD_ID:4891909 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151359|PMID:19522023 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0060074 ductal carcinoma in situ ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:breast PMID:18199541|REF_RGD_ID:2300203 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0060074 ductal carcinoma in situ disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:18237383|REF_RGD_ID:2300199 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0060180 colitis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11820457 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0060180 colitis treatment ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17543437|REF_RGD_ID:2298659 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0060903 thrombosis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20350286 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:26723251|REF_RGD_ID:11086779 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0080322 polycystic kidney disease ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17537981|REF_RGD_ID:2300262 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0080600 COVID-19 ISO RGD:731006 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0080820 occupational asthma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25721048 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481|PMID:20485159 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:mast cell PMID:9487340|REF_RGD_ID:5143936 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0080855 Parkinsonism ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:16781689|REF_RGD_ID:5688269 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0080855 Parkinsonism ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:21376018|REF_RGD_ID:5508224 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0080855 Parkinsonism ISO RGD:731007 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:neostriatum PMID:15306248|REF_RGD_ID:5688225 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0081120 Graves ophthalmopathy ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17614770 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0081292 traumatic brain injury ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28642177 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:10247 pleurisy ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:15740981|PMID:20141620|REF_RGD_ID:4142808|REF_RGD_ID:5143929 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:10283 prostate cancer susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1195G>A (human) PMID:26788504|REF_RGD_ID:11554936 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:10652 Alzheimer's disease ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:21701788|REF_RGD_ID:5688147 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:10652 Alzheimer's disease ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:9740394|REF_RGD_ID:5688252 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:10652 Alzheimer's disease ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA:decreased expression:neocortex, hippocampus PMID:8892355|REF_RGD_ID:5688254 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1067 open-angle glaucoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16330497 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:10762 portal hypertension ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17876871|REF_RGD_ID:1642587 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:10763 hypertension ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:15775781|PMID:16467505|REF_RGD_ID:1580671|REF_RGD_ID:1581285 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:10763 hypertension ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14757778|PMID:15834289|PMID:20667508|PMID:22349312 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:10808 gastric ulcer ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17673547|REF_RGD_ID:2300260 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:10808 gastric ulcer ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10594344|PMID:11376495|PMID:12481160|PMID:19066340|PMID:9024292 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:10808 gastric ulcer ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:17673547|REF_RGD_ID:2300260 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:11054 urinary bladder cancer ISO RGD:731006 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:10582676|PMID:10873095|PMID:12442003|PMID:12664575|PMID:16098373|PMID:17093206|PMID:29396848|PMID:36115647 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:11054 urinary bladder cancer ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:18222600|REF_RGD_ID:2300200 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:21255800|REF_RGD_ID:5508302 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:837T>C (human) PMID:18381966|REF_RGD_ID:2300127 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:11088 asphyxia neonatorum ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963755 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:11111 hydronephrosis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22430074 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:11132 prostatic hypertrophy ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:25546515|REF_RGD_ID:11566048 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:11335 sarcoidosis ISO RGD:731006 D RGD:9068941 20200609 RGD protein:decreased expression:lung: PMID:14511257|REF_RGD_ID:5135507 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:11335 sarcoidosis susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNP: :8473 T > C (human) PMID:19042116|REF_RGD_ID:5135505 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:11383 cryptorchidism ISO RGD:731007 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:testis PMID:22777528|REF_RGD_ID:11567213 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:118 pericardial effusion ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20801906 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:11832 visual epilepsy ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17827730|REF_RGD_ID:1642596 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1184 nephrotic syndrome ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:19194550|REF_RGD_ID:2317535 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:neuron PMID:12663931|REF_RGD_ID:5688237 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:11963 esophagitis ISO RGD:731006 D RGD:9068941 20200609 RGD associated with carcinoma, non-small-cell lung; PMID:20811626|REF_RGD_ID:5131286 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:12466 secondary hyperparathyroidism ISO RGD:620349 D RGD:9068941 20200609 RGD associated with Uremia PMID:21335517|REF_RGD_ID:5135046 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:12466 secondary hyperparathyroidism ISO RGD:731006 D RGD:9068941 20200609 RGD associated with kidney failure, chronic: protein:increased expression:parathyroid gland PMID:21335517|REF_RGD_ID:5135046 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:12849 autistic disorder ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18579107 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:12858 Huntington's disease ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:21362433|REF_RGD_ID:5508227 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1287 cardiovascular system disease ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17518513 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1287 cardiovascular system disease ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:21843325|REF_RGD_ID:5508196 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1324 lung cancer ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:21303331|REF_RGD_ID:5135048 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:13948 bladder neck obstruction ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15311063 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:14566 disease of cellular proliferation ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20155627 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:14654 prostatitis ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18554636|REF_RGD_ID:5135220 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1485 cystic fibrosis ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNPs: :-765G>C and 8473T>C (human) PMID:20720307|REF_RGD_ID:5135298 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1485 cystic fibrosis ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa PMID:18711055|REF_RGD_ID:5135523 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:731006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1561 cognitive disorder ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12410334 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1596 depressive disorder ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19356723 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1679 cystitis ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:20602232|REF_RGD_ID:5135058 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1724 duodenal ulcer ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12481160 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1749 squamous cell carcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16543248|PMID:18202791 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1793 pancreatic cancer ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10485483|PMID:10657949|PMID:15705899|PMID:16820089 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1793 pancreatic cancer ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:20216081|REF_RGD_ID:2317175 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1793 pancreatic cancer ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas PMID:19820419|REF_RGD_ID:2317179 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNPs: :-1195A > G, -765G > C (human) PMID:19062735|REF_RGD_ID:5135527 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-1195A>A ,-765G>C (human) PMID:19422084|REF_RGD_ID:2317184 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1824 status epilepticus ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:20643531|REF_RGD_ID:5135057 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1824 status epilepticus ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988310 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1909 melanoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863|PMID:17499752|PMID:18454317 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1936 atherosclerosis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20720404 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1967 leiomyosarcoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18645019 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2154 nephroblastoma ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:16945639|REF_RGD_ID:2300206 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2316 brain ischemia ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:12535784|REF_RGD_ID:1581286 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2316 brain ischemia ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:21718970|REF_RGD_ID:6480433 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2316 brain ischemia ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15737438|PMID:17394460|PMID:17564305|PMID:19417757 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2316 brain ischemia ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:11158633|REF_RGD_ID:5688292 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2349 arteriosclerosis ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:16458279|REF_RGD_ID:1581287 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2349 arteriosclerosis resistance ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:17643885|REF_RGD_ID:1642592 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2384 Wernicke encephalopathy ISO RGD:620349 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:medial thalamic group, inferior colliculus, neuron PMID:18481165|REF_RGD_ID:2300278 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2615 papilloma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151359|PMID:16144915 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2671 transitional cell carcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10582676|PMID:10873095|PMID:12151359|PMID:12664575 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:18449376|REF_RGD_ID:2300124 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2841 asthma ISO RGD:620349 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung: PMID:18097056|REF_RGD_ID:5135534 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2841 asthma ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:19862936|REF_RGD_ID:5135515 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2841 asthma ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:19342146|REF_RGD_ID:5135522 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2841 asthma ISO RGD:731007 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19878559|REF_RGD_ID:5135514 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2841 asthma severity ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNP: :rs689465 (human) PMID:18489027|REF_RGD_ID:5135526 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2841 asthma susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:15316498|REF_RGD_ID:5143931 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2841 asthma susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNP: :8473T>C (human) PMID:17573729|REF_RGD_ID:5143923 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:289 endometriosis ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:20056215|REF_RGD_ID:5135061 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:289 endometriosis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25446850 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:289 endometriosis treatment ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:23406865|REF_RGD_ID:7257718 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:299 adenocarcinoma ISO RGD:620349 D RGD:9068941 20200609 RGD associated with Esophageal Neoplasms PMID:17675820|REF_RGD_ID:1642603 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:299 adenocarcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10485483|PMID:16820089 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2999 granulosa cell tumor ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01) PMID:11994539|REF_RGD_ID:2289157 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3008 invasive ductal carcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21153458 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3021 acute kidney failure ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:21893983|REF_RGD_ID:5508181 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:305 carcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10485483 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3068 glioblastoma ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell PMID:10229132|REF_RGD_ID:5688250 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3068 glioblastoma disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:11121536|REF_RGD_ID:5688245 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3070 high grade glioma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15561105 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3071 gliosarcoma ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell PMID:10229132|REF_RGD_ID:5688250 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:polymorphism: :g.-765G>C (human) PMID:21655952|REF_RGD_ID:5135277 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:15949313|REF_RGD_ID:5143926 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3213 demyelinating disease ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:14694045|REF_RGD_ID:5688228 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3213 demyelinating disease ISO RGD:731007 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:21530210|REF_RGD_ID:5688267 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3312 bipolar disorder ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prefrontal cortex PMID:20038946|REF_RGD_ID:5688160 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11220737|PMID:15816863 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord, neuron, glia PMID:14511332|REF_RGD_ID:5688235 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3393 coronary artery disease ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14642682 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:18670639|REF_RGD_ID:2317185 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:37 skin disease ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15451306 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15756444|PMID:16543248|PMID:18197933 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3770 pulmonary fibrosis ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17825173|REF_RGD_ID:1642597 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3770 pulmonary fibrosis ISO RGD:731006 D RGD:9068941 20200609 RGD associated with sarcoidosis; DNA:SNP: :-765G>C (human) PMID:21681100|REF_RGD_ID:5135504 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNP: :929G>C(human) PMID:20016751|REF_RGD_ID:5135471 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20592629|REF_RGD_ID:5135302 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:4029 gastritis ISO RGD:620349 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach mucosa PMID:18646190|REF_RGD_ID:2300274 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:403 mouth disease ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:418 systemic scleroderma ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:21979415|REF_RGD_ID:5508306 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:4195 hyperglycemia ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14514642 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:4450 renal cell carcinoma ISO RGD:620349 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:12708469|REF_RGD_ID:2300212 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:4450 renal cell carcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12664575 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:17899436|REF_RGD_ID:2300204 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:4481 allergic rhinitis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16979129 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:4492 avian influenza ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:18613795|REF_RGD_ID:5135502 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:4543 retrograde amnesia ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18523723|REF_RGD_ID:2300277 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:4914 esophagus adenocarcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12507933 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:4914 esophagus adenocarcinoma disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD protein: increased expression: esophagus PMID:12055587|REF_RGD_ID:13207437 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:4947 cholangiocarcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16818635 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:4947 cholangiocarcinoma ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:19621664|REF_RGD_ID:2317180 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:4989 pancreatitis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19820421 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:4989 pancreatitis onset ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:21372163|REF_RGD_ID:5508226 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:5082 liver cirrhosis severity ISO RGD:731006 D RGD:9068941 20200609 RGD human gene in mouse model PMID:29109031|REF_RGD_ID:14695008 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:620349 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:21846384|REF_RGD_ID:5508195 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:5394 prolactinoma ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA:increased expression:pituitary gland PMID:22580984|REF_RGD_ID:11667097 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:5419 schizophrenia ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17881518|REF_RGD_ID:1642594 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12969226 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:557 kidney disease ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19643929 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:576 proteinuria ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19643929 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:5773 oral submucous fibrosis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:5844 myocardial infarction ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:15138244|REF_RGD_ID:1581289 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:6000 congestive heart failure ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20304815 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA:increased expression:pituitary gland PMID:22580984|REF_RGD_ID:11667097 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:630 genetic disease ISO RGD:731006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:6432 pulmonary hypertension ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18542928|REF_RGD_ID:2300276 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:6432 pulmonary hypertension ISO RGD:731007 D RGD:9068941 20200609 RGD anoxia associated; PMID:19577709|REF_RGD_ID:5135495 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18373278|REF_RGD_ID:2300283 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11872629|PMID:12024111|PMID:14563831|PMID:16374840|PMID:17510421 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver PMID:24759835|REF_RGD_ID:14695011 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:liver, cytosol PMID:15800977|REF_RGD_ID:14695012 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1195A>G (rs689466) (human) PMID:24720952|REF_RGD_ID:14695010 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:620349 D RGD:9068941 20220520 RGD PMID:25999787|REF_RGD_ID:152177911 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:707 B-cell lymphoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14654083 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11978490|PMID:19192274 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:21905970|REF_RGD_ID:5508313 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:7693 abdominal aortic aneurysm ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16514081 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:783 end stage renal disease ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:820 myocarditis ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:16107267|REF_RGD_ID:1581288 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:8398 osteoarthritis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:32004530 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:8398 osteoarthritis susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:15334463|REF_RGD_ID:1625347 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:8437 intestinal obstruction ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:21051526|REF_RGD_ID:5135055 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:850 lung disease ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19084589 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:8534 gastroesophageal reflux disease ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21451212 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:8577 ulcerative colitis ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17429720|REF_RGD_ID:2300267 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:863 nervous system disease ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10698006 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:8634 prostate carcinoma in situ ISO RGD:731006 D RGD:9068941 20200609 RGD protein:altered localization PMID:18468781|REF_RGD_ID:2300123 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:8719 in situ carcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10582676|PMID:10873095 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:8719 in situ carcinoma ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:18617777|REF_RGD_ID:2317186 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:8719 in situ carcinoma ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:17652141|REF_RGD_ID:2317187 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:8778 Crohn's disease ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:21763290|REF_RGD_ID:5508200 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix, epithelial cell PMID:18565574|REF_RGD_ID:2299119 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:19606394|REF_RGD_ID:2317181 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:17575102|REF_RGD_ID:2317188 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000011 Gallbladder Neoplasms susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-765G>C (rs20417), -1195G>A (rs689466) (human) PMID:19455278|REF_RGD_ID:2317182 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18606213|REF_RGD_ID:5135219 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19376970 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:731006 D RGD:9068941 20200609 RGD associated with Biliary Tract Neoplasms PMID:18159174|REF_RGD_ID:2317165 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:731006 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:18353210|REF_RGD_ID:2300128 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:731006 D RGD:9068941 20200609 RGD associated with carcinoma, non-small-cell lung; DNA:SNP: :929G>C(human) PMID:20016751|REF_RGD_ID:5135471 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:620349 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:Esophagus PMID:22165968|REF_RGD_ID:5687745 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11059772|PMID:16322294|PMID:17707579 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000117 Esophageal Neoplasms susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNPs: :-1195A > G, -765G > C (human) PMID:16083713|REF_RGD_ID:5135528 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000197 Edema ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11820457 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10404093|PMID:17003101|PMID:17224647|PMID:22385256 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15492235 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:21725746|REF_RGD_ID:5508204 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000641 Pain ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18497304|REF_RGD_ID:2300228 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000641 Pain ISO RGD:620349 D RGD:9068941 20200609 RGD associated with Osteoarthritis, Knee;mRNA, protein:increased expression:spinal cord PMID:18637715|REF_RGD_ID:2300223 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000641 Pain susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD associated with lung neoplasm;DNA:SNP:exon:rs5275 (human) PMID:19773451|REF_RGD_ID:5135482 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000784 Fibrosis ISO RGD:620349 D RGD:9068941 20200609 RGD associated with Cholestasis PMID:18462380|REF_RGD_ID:2300279 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000784 Fibrosis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11872629 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:intestine PMID:17699727|REF_RGD_ID:2290567 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:21048090|REF_RGD_ID:5134956 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:620349 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:18398660|REF_RGD_ID:2300249 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16489006|PMID:18509974 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731006 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:18663571|REF_RGD_ID:2300119 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731006 D RGD:9068941 20200609 RGD associated with breast neoplasm; PMID:19421193|REF_RGD_ID:5135498 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731006 D RGD:9068941 20200609 RGD associated with osteosarcoma; PMID:18797196|REF_RGD_ID:5135500 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731007 D RGD:9068941 20200609 RGD associated with lung neoplasm PMID:21238650|REF_RGD_ID:5135282 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000972 Fever ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:21741371|REF_RGD_ID:5508203 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000972 Fever ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25164664 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000998 Brain Injuries ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:21866634|REF_RGD_ID:5508191 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000998 Brain Injuries ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12410334|PMID:20810888|PMID:21549006 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000998 Brain Injuries ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:19719848|REF_RGD_ID:5688162 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9001109 Anorexia treatment ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:22902858|REF_RGD_ID:13825124 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9001129 Alcohol Withdrawal Delirium ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:16318954|REF_RGD_ID:5688289 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression: PMID:14871450|REF_RGD_ID:5688227 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression: PMID:14871450|REF_RGD_ID:5688227 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9001472 Nasal Polyps ISO RGD:731006 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis; protein:increased expression:nasal mucosa: PMID:16517580|REF_RGD_ID:5143924 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9001488 Human Influenza ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:16272346|REF_RGD_ID:5143925 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9001542 Albuminuria ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17890881 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17565644|PMID:18555214 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9001579 Neurogenic Inflammation ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17539917 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9001642 Intestinal Polyps ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10753194|PMID:11245490|PMID:11507063 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17112505|REF_RGD_ID:5688268 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:620349 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21441310|REF_RGD_ID:5135032 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002211 Hyperalgesia ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:15464832|REF_RGD_ID:5688224 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002211 Hyperalgesia ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17112505|PMID:17989504 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002221 Hyperplasia ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151359|PMID:17093206|PMID:22561872 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16314473 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:620349 D RGD:9068941 20200609 RGD associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney PMID:17272666|REF_RGD_ID:2308941 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12664575 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10753955|PMID:14754878|PMID:15126378|PMID:16506214|PMID:17609663 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731006 D RGD:9068941 20200609 RGD protein:altered localization PMID:18468781|REF_RGD_ID:2300123 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002304 Prostatic Neoplasms severity ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:18242387|REF_RGD_ID:2300193 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002457 Experimental Arthritis ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18758904|REF_RGD_ID:2300221 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002457 Experimental Arthritis ISO RGD:620349 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:synovium PMID:22289897|REF_RGD_ID:5687744 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002457 Experimental Arthritis ISO RGD:731007 D RGD:9068941 20200609 RGD protein:increased expression:autopod joint PMID:21765105|REF_RGD_ID:5508310 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002589 Bone Fractures ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18795192|REF_RGD_ID:5135218 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002669 Hypoxia ISO RGD:731007 D RGD:9068941 20200609 RGD protein:increased expression:pulmonary artery PMID:19710084|REF_RGD_ID:5135519 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:21385433|REF_RGD_ID:5508223 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:731007 D RGD:9068941 20200609 RGD protein:increased expression:neuron, astrocyte, blood vessel PMID:21385433|REF_RGD_ID:5508223 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:14766256|REF_RGD_ID:2300209 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:18171606|REF_RGD_ID:2298936 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell PMID:10229132|REF_RGD_ID:5688250 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:731007 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, cerebellum, spinal cord PMID:21667309|REF_RGD_ID:5688149 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:21268133|REF_RGD_ID:5135051 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189188|PMID:17667525|PMID:21081470 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix, epithelial cell PMID:18565574|REF_RGD_ID:2299119 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9003507 Premature Birth ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26055944|PMID:27748297 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9003613 Laryngeal Neoplasms severity ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:larynx PMID:20429377|REF_RGD_ID:5135434 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:16247333|PMID:21944479|REF_RGD_ID:1580660|REF_RGD_ID:5508180 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:620349 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:21394482|REF_RGD_ID:5135045 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10588920|PMID:10594344|PMID:11567657|PMID:16386242|PMID:18258783|PMID:19673871 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9004389 Bone Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16489006 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9004397 calcification of aortic valve ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:25722432|REF_RGD_ID:13207434 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9004397 calcification of aortic valve disease_progression ISO RGD:731007 D RGD:9068941 20200609 RGD protein: increased expression: aortic valve: endothelial cells, valvular interstitial cells PMID:25722432|REF_RGD_ID:13207434 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9004464 Skin Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17499752|PMID:19748995|PMID:21159610 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22387750 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9004590 Acute Liver Failure ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18336855|REF_RGD_ID:2300286 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9004590 Acute Liver Failure severity ISO RGD:731006 D RGD:9068941 20200609 RGD human gene in mouse model PMID:19017995|REF_RGD_ID:14695009 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9004610 Acute Lung Injury ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19567182|REF_RGD_ID:5135496 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9004610 Acute Lung Injury ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:20926798|REF_RGD_ID:5135287 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18542928|REF_RGD_ID:2300276 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:18400268|REF_RGD_ID:2300126 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14566678 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18279516|REF_RGD_ID:2300130 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:620349 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:21623034|REF_RGD_ID:5135030 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:18676768|REF_RGD_ID:2300118 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9005372 Inflammation ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17701021|REF_RGD_ID:1642601 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9005372 Inflammation ISO RGD:620349 D RGD:9068941 20200609 RGD associated with Cholestasis PMID:18435714|REF_RGD_ID:2300281 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9005372 Inflammation ISO RGD:620349 D RGD:9068941 20200609 RGD associated with Ileus PMID:18266613|REF_RGD_ID:2300287 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9005372 Inflammation ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11094054|PMID:11321505|PMID:19084589 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9005372 Inflammation ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:17701021|REF_RGD_ID:1642601 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18706904|REF_RGD_ID:2300222 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:21521772|REF_RGD_ID:5135278 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve PMID:17720896|REF_RGD_ID:1642588 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14514642|PMID:21414306 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9005873 Tongue Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16543248|PMID:22561872 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9005930 Endotoxemia ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:21641970|REF_RGD_ID:5135029 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:17883899|REF_RGD_ID:1642586 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression: PMID:12916703|REF_RGD_ID:5688236 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10698006 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007073 Cough ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:20696045|REF_RGD_ID:5135513 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007096 Stroke ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20083630 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007096 Stroke ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:15138244|REF_RGD_ID:1581289 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007278 Anaphylaxis ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18480553|REF_RGD_ID:2300247 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007278 Anaphylaxis ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:17822719|REF_RGD_ID:1642600 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007284 Precocious Puberty ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21402727 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007346 Cachexia ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17878525 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:20051374|REF_RGD_ID:5135063 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12969226 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11743745 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007557 Laryngeal Papillomatosis ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:19736197|REF_RGD_ID:5135499 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:18416056|REF_RGD_ID:2300125 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007730 Burns ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15650120 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17660401|REF_RGD_ID:2300261 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007980 Sleep Deprivation ISO RGD:731007 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:18077435|REF_RGD_ID:6480426 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10485483|PMID:11375891|PMID:12837940|PMID:15753380|PMID:19671906|PMID:20427397 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16127422|PMID:16870006|PMID:17285134|PMID:18498876|PMID:18509974 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:breast PMID:14605950|REF_RGD_ID:2300210 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast PMID:18612134|REF_RGD_ID:2300120 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:18334709|REF_RGD_ID:2300129 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9009039 Hyperemia ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11820457 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17761345 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9206 Barrett's esophagus ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17675820|REF_RGD_ID:1642603 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9206 Barrett's esophagus ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11059772|PMID:15387324|PMID:17244951 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9206 Barrett's esophagus disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:23011828|REF_RGD_ID:7349348 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9206 Barrett's esophagus disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA: increased expression: Esophagus PMID:12105834|REF_RGD_ID:13207438 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9351 diabetes mellitus ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15885672 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9351 diabetes mellitus ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:15885672|REF_RGD_ID:5143927 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18706904|REF_RGD_ID:2300222 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9452 fatty liver disease ISO RGD:620349 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver PMID:21643627|REF_RGD_ID:5135028 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9655 oral mucosa leukoplakia ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18202791 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9675 pulmonary emphysema ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:20472710|REF_RGD_ID:4891488 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9743 diabetic neuropathy ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17720896|REF_RGD_ID:1642588 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9743 diabetic neuropathy ISO RGD:620349 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:peripheral nerve PMID:21951301|REF_RGD_ID:5508311 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9970 obesity ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21156398 12038083 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9970 obesity ISO RGD:731007 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:21978752|REF_RGD_ID:5508307 12038097 ZNF732 zinc finger protein 732 gene DOID:630 genetic disease ISO RGD:2311726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038097 ZNF732 zinc finger protein 732 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:2311726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:28492532 12038105 LOC100986229 CUGBP Elav-like family member 6 gene DOID:0110225 Brugada syndrome 8 ISO RGD:1352150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 12038105 LOC100986229 CUGBP Elav-like family member 6 gene DOID:10579 leukodystrophy ISO RGD:1352150 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:20363167|PMID:22789865|PMID:24767253|PMID:25606403|PMID:25741868 12038105 LOC100986229 CUGBP Elav-like family member 6 gene DOID:1059 intellectual disability ISO RGD:1352150 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10571007|PMID:11463833|PMID:1301938|PMID:1307230|PMID:14727180|PMID:16088929|PMID:16352452|PMID:1830584|PMID:1833974|PMID:20301397|PMID:20672374|PMID:21228398|PMID:22441121|PMID:22723944|PMID:22789865|PMID:2294750|PMID:22975760|PMID:23852624|PMID:24033266|PMID:24374108|PMID:24518553|PMID:24940364|PMID:25287655|PMID:25557439|PMID:25741868|PMID:27033294|PMID:27054707|PMID:27896118|PMID:27959697|PMID:2824459|PMID:2848800|PMID:28492532|PMID:28503624|PMID:31293106|PMID:8230592|PMID:8352284|PMID:8488832|PMID:8490625 12038105 LOC100986229 CUGBP Elav-like family member 6 gene DOID:14753 isovaleric acidemia ISO RGD:1352150 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Isovaleryl-CoA dehydrogenase deficiency PMID:15065574|PMID:16199547|PMID:1833974|PMID:22723944|PMID:25741868|PMID:28492532|PMID:7827134|PMID:8490625 12038105 LOC100986229 CUGBP Elav-like family member 6 gene DOID:2717 Bloom syndrome ISO RGD:1352150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12038105 LOC100986229 CUGBP Elav-like family member 6 gene DOID:3320 Tay-Sachs disease ISO RGD:1352150 D RGD:7240710 20180130 OMIM 12038105 LOC100986229 CUGBP Elav-like family member 6 gene DOID:3320 Tay-Sachs disease ISO RGD:1352150 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GM2-ganglioside accumulation | ClinVar Annotator: match by term: Tay-Sachs disease | ClinVar Annotator: match by term: Tay-sachs disease, juvenile/adult PMID:10083731|PMID:10464605|PMID:10571007|PMID:10584247|PMID:10852376|PMID:11161796|PMID:11317368|PMID:11463833|PMID:11596984|PMID:11707436|PMID:12027830|PMID:12180151|PMID:12202988|PMID:12689698|PMID:1269177|PMID:1301189|PMID:1301190|PMID:1301938|PMID:1301958|PMID:1302612|PMID:1307230|PMID:1318511|PMID:1322637|PMID:1384323|PMID:1387685|PMID:1415222|PMID:14566483|PMID:14577003|PMID:14648242|PMID:14685153|PMID:14724290|PMID:14727180|PMID:1483696|PMID:15065574|PMID:15108204|PMID:1532289|PMID:15714079|PMID:16088929|PMID:16199547|PMID:16352452|PMID:16698036|PMID:16948947|PMID:17001642|PMID:17015493|PMID:17237499|PMID:17259242|PMID:17576681|PMID:1827944|PMID:1827945|PMID:1830584|PMID:1831451|PMID:1832817|PMID:1833974|PMID:18358410|PMID:1837283|PMID:18490185|PMID:18648917|PMID:19091716|PMID:19156839|PMID:19644708|PMID:19815695|PMID:19858779|PMID:1996872|PMID:20100466|PMID:20301350|PMID:20301397|PMID:20363167|PMID:20672374|PMID:20926324|PMID:21228398|PMID:2137287|PMID:2139660|PMID:2140574|PMID:2141777|PMID:2144098|PMID:2145759|PMID:21567908|PMID:21796138|PMID:21937992|PMID:21967858|PMID:22006919|PMID:22344438|PMID:22390110|PMID:22441121|PMID:22723944|PMID:2278539|PMID:22789865|PMID:2294750|PMID:22975760|PMID:23035047|PMID:23359698|PMID:23820084|PMID:23852624|PMID:24033266|PMID:24088041|PMID:24374108|PMID:24498621|PMID:24518553|PMID:24767253|PMID:24940364|PMID:24953648|PMID:25041270|PMID:2521932|PMID:2522660|PMID:2522679|PMID:25287655|PMID:2531748|PMID:25326635|PMID:25525159|PMID:25557439|PMID:25606403|PMID:25640679|PMID:25741868|PMID:25741876|PMID:25860343|PMID:26350204|PMID:26467025|PMID:26633545|PMID:27033294|PMID:27054707|PMID:27362553|PMID:27682588|PMID:27896118|PMID:27959697|PMID:2824459|PMID:28359061|PMID:2837213|PMID:2848800|PMID:28492532|PMID:28503624|PMID:28739864|PMID:29214523|PMID:2934978|PMID:29482223|PMID:2954459|PMID:2961848|PMID:2970528|PMID:2973311|PMID:2973464|PMID:29973161|PMID:30506202|PMID:31076878|PMID:31130284|PMID:31242539|PMID:31293106|PMID:31367523|PMID:31388111|PMID:31428437|PMID:31839005|PMID:32968423|PMID:33083013|PMID:33240792|PMID:33426165|PMID:33547378|PMID:3362213|PMID:3375249|PMID:3754980|PMID:3837850|PMID:6236221|PMID:6959123|PMID:7063277|PMID:7551830|PMID:7717398|PMID:7749419|PMID:7827134|PMID:7837766|PMID:7858168|PMID:7898712|PMID:7902672|PMID:7951261|PMID:803011|PMID:8044648|PMID:8081943|PMID:8123671|PMID:8230592|PMID:8257995|PMID:8326491|PMID:8328462|PMID:8328470|PMID:8343225|PMID:8352284|PMID:8397824|PMID:8444467|PMID:8445615|PMID:8484765|PMID:8488832|PMID:8490625|PMID:8581357|PMID:8672428|PMID:8730294|PMID:8757036|PMID:8995368|PMID:9090523|PMID:9090529|PMID:9150157|PMID:9153525|PMID:9169471|PMID:9222766|PMID:9272736|PMID:9338583|PMID:9401008|PMID:9536098|PMID:9603435|PMID:9694901|PMID:9851891 12038105 LOC100986229 CUGBP Elav-like family member 6 gene DOID:3321 GM2 gangliosidosis ISO RGD:1352150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gm2-gangliosidosis, late onset PMID:10852376|PMID:14724290|PMID:1483696|PMID:15714079|PMID:17576681|PMID:18490185|PMID:19815695|PMID:20363167|PMID:21228398|PMID:2145759|PMID:22006919|PMID:2278539|PMID:22975760|PMID:2522660|PMID:2522679|PMID:25741868|PMID:27033294|PMID:27682588|PMID:28492532|PMID:31076878|PMID:31367523|PMID:6236221|PMID:8328462|PMID:8343225|PMID:8490625|PMID:8757036|PMID:9090523|PMID:9536098 12038105 LOC100986229 CUGBP Elav-like family member 6 gene DOID:4795 GM2 Gangliosidosis, AB variant ISO RGD:1352150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease, variant AB PMID:10571007|PMID:11463833|PMID:1301938|PMID:1307230|PMID:14727180|PMID:16088929|PMID:16352452|PMID:1830584|PMID:1833974|PMID:18358410|PMID:20301397|PMID:20672374|PMID:21228398|PMID:22441121|PMID:22723944|PMID:22789865|PMID:2294750|PMID:22975760|PMID:23852624|PMID:24033266|PMID:24374108|PMID:24518553|PMID:24940364|PMID:25287655|PMID:25557439|PMID:25741868|PMID:27033294|PMID:27896118|PMID:27959697|PMID:2824459|PMID:2848800|PMID:28492532|PMID:28503624|PMID:33083013|PMID:8230592|PMID:8352284|PMID:8488832|PMID:8490625 12038105 LOC100986229 CUGBP Elav-like family member 6 gene DOID:630 genetic disease ISO RGD:1352150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10083731|PMID:10571007|PMID:10852376|PMID:11317368|PMID:11463833|PMID:11707436|PMID:12202988|PMID:1301190|PMID:1301938|PMID:1302612|PMID:1307230|PMID:1318511|PMID:1384323|PMID:1387685|PMID:1415222|PMID:14566483|PMID:14577003|PMID:14727180|PMID:1483696|PMID:1532289|PMID:15714079|PMID:16088929|PMID:16199547|PMID:16352452|PMID:16698036|PMID:16948947|PMID:17015493|PMID:17237499|PMID:17576681|PMID:1830584|PMID:1831451|PMID:1832817|PMID:1833974|PMID:1837283|PMID:18490185|PMID:19091716|PMID:19815695|PMID:19858779|PMID:20100466|PMID:20301350|PMID:20301397|PMID:20363167|PMID:20672374|PMID:21228398|PMID:2137287|PMID:2140574|PMID:2144098|PMID:2145759|PMID:22006919|PMID:22344438|PMID:22441121|PMID:22723944|PMID:2278539|PMID:22789865|PMID:2294750|PMID:22975760|PMID:23359698|PMID:23852624|PMID:24033266|PMID:24088041|PMID:24374108|PMID:24498621|PMID:24518553|PMID:24767253|PMID:24940364|PMID:24953648|PMID:25041270|PMID:2521932|PMID:2522660|PMID:2522679|PMID:25287655|PMID:25557439|PMID:25606403|PMID:25741868|PMID:25741876|PMID:26633545|PMID:27033294|PMID:27682588|PMID:27896118|PMID:27959697|PMID:2824459|PMID:28359061|PMID:2848800|PMID:28492532|PMID:28503624|PMID:29214523|PMID:2961848|PMID:2970528|PMID:2973311|PMID:31076878|PMID:31367523|PMID:6236221|PMID:6959123|PMID:7551830|PMID:7858168|PMID:8123671|PMID:8230592|PMID:8326491|PMID:8328462|PMID:8343225|PMID:8352284|PMID:8444467|PMID:8488832|PMID:8490625|PMID:8672428|PMID:8730294|PMID:8995368|PMID:9169471|PMID:9272736|PMID:9338583|PMID:9401008|PMID:9536098|PMID:9694901 12038105 LOC100986229 CUGBP Elav-like family member 6 gene DOID:9001313 Gm2-Gangliosidosis, Adult Chronic Type ISO RGD:1352150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gm2-gangliosidosis, adult | ClinVar Annotator: match by term: Gm2-gangliosidosis, adult-onset PMID:10852376|PMID:14566483|PMID:14577003|PMID:1483696|PMID:1532289|PMID:15714079|PMID:16088929|PMID:17015493|PMID:17237499|PMID:17576681|PMID:18490185|PMID:19815695|PMID:20363167|PMID:21228398|PMID:2145759|PMID:22006919|PMID:2278539|PMID:22789865|PMID:22975760|PMID:2522660|PMID:2522679|PMID:25741868|PMID:27033294|PMID:27682588|PMID:28492532|PMID:31076878|PMID:6236221|PMID:8328462|PMID:8343225|PMID:8490625|PMID:9536098 12038105 LOC100986229 CUGBP Elav-like family member 6 gene DOID:9001497 Tay-Sachs Disease, Juvenile ISO RGD:1352150 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Tay-sachs disease, juvenile PMID:1301189|PMID:25741868 12038105 LOC100986229 CUGBP Elav-like family member 6 gene DOID:9003240 Tay-Sachs Disease, Variant B1 ISO RGD:1352150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease, B1 variant PMID:10584247|PMID:1302612|PMID:1318511|PMID:14577003|PMID:16088929|PMID:17015493|PMID:1831451|PMID:1832817|PMID:1833974|PMID:18490185|PMID:20100466|PMID:20301350|PMID:2137287|PMID:22441121|PMID:22789865|PMID:23359698|PMID:24953648|PMID:25041270|PMID:2521932|PMID:25741868|PMID:25741876|PMID:27896118|PMID:28359061|PMID:28492532|PMID:2961848|PMID:2973311|PMID:7551830|PMID:8730294|PMID:9272736 12038105 LOC100986229 CUGBP Elav-like family member 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352150 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12038105 LOC100986229 CUGBP Elav-like family member 6 gene DOID:9006548 Gm2-Gangliosidosis, Variant B1 ISO RGD:1352150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gm2-gangliosidosis, variant b1 PMID:1532289 12038105 LOC100986229 CUGBP Elav-like family member 6 gene DOID:9008086 Developmental Disabilities ISO RGD:1352150 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:1318511|PMID:16088929|PMID:17015493|PMID:1831451|PMID:1832817|PMID:1833974|PMID:18490185|PMID:20100466|PMID:20301350|PMID:2137287|PMID:22441121|PMID:22789865|PMID:23359698|PMID:24953648|PMID:25041270|PMID:2521932|PMID:25741868|PMID:25741876|PMID:28359061|PMID:28492532|PMID:2961848|PMID:2973311|PMID:7551830|PMID:8730294 12038105 LOC100986229 CUGBP Elav-like family member 6 gene DOID:9256 colorectal cancer ISO RGD:1352150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12038128 TRIM65 tripartite motif containing 65 gene DOID:630 genetic disease ISO RGD:1352380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038137 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:0050563 nonsyndromic deafness ISO RGD:1318815 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness PMID:17253968|PMID:23695678|PMID:25741868|PMID:28971506|PMID:29449963|PMID:29952828|PMID:9827909 12038137 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1318815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 12038137 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1318815 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12038137 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:0111391 mucopolysaccharidosis IVA ISO RGD:1318815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A PMID:25545067|PMID:25741868|PMID:28492532|PMID:34387910 12038137 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:0111576 dehydrated hereditary stomatocytosis 1 ISO RGD:1318815 D RGD:7240710 20180130 OMIM 12038137 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:0111576 dehydrated hereditary stomatocytosis 1 ISO RGD:1318815 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH PMID:16898969|PMID:17253968|PMID:21944700|PMID:22529292|PMID:23479567|PMID:23487776|PMID:23581886|PMID:23695678|PMID:23973043|PMID:24033266|PMID:24314002|PMID:25741868|PMID:28492532|PMID:28518170|PMID:28716860|PMID:28971506|PMID:29449963|PMID:29952828|PMID:5559828|PMID:89283|PMID:9827909 12038137 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:14780 KBG syndrome ISO RGD:1318815 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 12038137 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:583 hemolytic anemia ISO RGD:1318815 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hemolytic anemia PMID:25741868 12038137 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:589 congenital hemolytic anemia ISO RGD:1318815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868 12038137 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:630 genetic disease ISO RGD:1318815 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:36122374 12038137 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:8488 polyhydramnios ISO RGD:1318815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyhydramnios PMID:25741868|PMID:30244526|PMID:31680349 12038137 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:9000957 Hereditary Lymphedema III ISO RGD:1318815 D RGD:7240710 20190315 OMIM 12038137 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:9000957 Hereditary Lymphedema III ISO RGD:1318815 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: LYMPHATIC MALFORMATION 6 | ClinVar Annotator: match by term: Lymphatic malformation 6 | ClinVar Annotator: match by term: Lymphedema, hereditary, III PMID:25741868|PMID:25741889|PMID:26333996|PMID:26780541|PMID:28492532|PMID:30244526|PMID:36122374 12038137 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1318815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12038137 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:9004927 Stomatocytosis II ISO RGD:1318815 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Stomatocytosis II PMID:16898969|PMID:17253968|PMID:21944700|PMID:22529292|PMID:23479567|PMID:23487776|PMID:23581886|PMID:23695678|PMID:23973043|PMID:24033266|PMID:24314002|PMID:25741868|PMID:28492532|PMID:28518170|PMID:28716860|PMID:28971506|PMID:29449963|PMID:29952828|PMID:5559828|PMID:89283|PMID:9827909 12038137 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1318815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydrops fetalis | ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868|PMID:28492532|PMID:28619848|PMID:30187933|PMID:30244526|PMID:30655378|PMID:30887001|PMID:31091145|PMID:31624108|PMID:31680349|PMID:32981126|PMID:33027564 12038137 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:9009244 Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome ISO RGD:1318815 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome PMID:25741868|PMID:28492532 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220224 RGD PMID:32359697|REF_RGD_ID:151361139 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220225 RGD PMID:24762957|REF_RGD_ID:151361157 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:23801167|REF_RGD_ID:151361213 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:0050872 large cell neuroendocrine carcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:18440724|REF_RGD_ID:151361285 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1354186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:27912058 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1354186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:0080202 adenoid cystic carcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:23516127|REF_RGD_ID:151361211 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:0080899 lung pleomorphic carcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:30300664|REF_RGD_ID:151361288 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1354186 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:10534 stomach cancer ISO RGD:1354186 D RGD:9068941 20220224 RGD protein:increased expression:stomach PMID:29367342|REF_RGD_ID:151361142 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:10534 stomach cancer severity ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:23809372|REF_RGD_ID:151361296 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:1107 esophageal carcinoma severity ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:15906366|REF_RGD_ID:151361282 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:11963 esophagitis ISO RGD:1354186 D RGD:9068941 20220303 RGD protein:increased expression:epithelium PMID:28370814|REF_RGD_ID:151361286 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:1996 rectum adenocarcinoma treatment ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:21036745|REF_RGD_ID:151361202 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:219 colon cancer treatment ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:19900191|REF_RGD_ID:151361295 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:2671 transitional cell carcinoma ISO RGD:620639 D RGD:9068941 20220224 RGD protein:increased expression:bladder PMID:28339760|REF_RGD_ID:151361118 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:3042 allergic contact dermatitis ISO RGD:1354186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:3068 glioblastoma disease_progression ISO RGD:1354186 D RGD:9068941 20220224 RGD PMID:16496379|REF_RGD_ID:151361115 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:3069 malignant astrocytoma disease_progression ISO RGD:1354186 D RGD:9068941 20220224 RGD PMID:16496379|REF_RGD_ID:151361115 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:3070 high grade glioma ameliorates ISO RGD:620639 D RGD:9068941 20220224 RGD PMID:16496379|REF_RGD_ID:151361115 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:3495 extrahepatic bile duct adenocarcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:24890221|REF_RGD_ID:151361210 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:3717 gastric adenocarcinoma ISO RGD:1354186 D RGD:9068941 20220303 RGD protein:increased expression:mucosa: PMID:21501294|REF_RGD_ID:151361203 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1354186 D RGD:9068941 20220224 RGD protein:increased expression:esophagus PMID:33609949|REF_RGD_ID:151361149 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:26936531|PMID:31726270|REF_RGD_ID:11532833|REF_RGD_ID:151361144 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:3907 lung squamous cell carcinoma ISO RGD:735716 D RGD:9068941 20220225 RGD PMID:19068093|REF_RGD_ID:151361158 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220225 RGD PMID:21187458|REF_RGD_ID:151361159 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:22110199|REF_RGD_ID:151361206 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220225 RGD PMID:19171406|PMID:26279756|REF_RGD_ID:151361150|REF_RGD_ID:151361151 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:4896 bile duct adenocarcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:24131658|REF_RGD_ID:151361287 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:4897 bile duct carcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:24890221|REF_RGD_ID:151361210 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:25475870|REF_RGD_ID:151361214 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:4947 cholangiocarcinoma treatment ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:24131658|PMID:28347255|REF_RGD_ID:151361287|REF_RGD_ID:151361294 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:630 genetic disease ISO RGD:1354186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:684 hepatocellular carcinoma ISO RGD:620639 D RGD:9068941 20220303 RGD mRNA:increased expression:liver PMID:7532544|REF_RGD_ID:634202 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1354186 D RGD:9068941 20220224 RGD PMID:26389641|REF_RGD_ID:151361140 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:23696029|PMID:26389641|REF_RGD_ID:151361140|REF_RGD_ID:151361280 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:7474 malignant pleural mesothelioma ISO RGD:1354186 D RGD:9068941 20220303 RGD protein:increased expression:pleura PMID:24912849|REF_RGD_ID:151660330 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:22199264|REF_RGD_ID:151361201 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620639 D RGD:9068941 20220225 RGD protein:increased expression:spinal cord PMID:19388351|REF_RGD_ID:151361131 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1354186 D RGD:9068941 20220303 RGD associated with gastric adenocarcinoma;protein:increased expression: : PMID:21501294|REF_RGD_ID:151361203 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:9000081 Lymphatic Metastasis severity ISO RGD:1354186 D RGD:9068941 20220303 RGD associated with stomach carcinoma PMID:25908107|REF_RGD_ID:11052781 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:9000918 Disease Progression disease_progression ISO RGD:1354186 D RGD:9068941 20220224 RGD associated with Colorectal Neoplasms PMID:32359697|REF_RGD_ID:151361139 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:19018776|REF_RGD_ID:151361278 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:620639 D RGD:9068941 20220224 RGD mRNA:increased expression:liver PMID:17498859|REF_RGD_ID:151357003 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:9002957 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO ISO RGD:1354186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to PMID:24530203|PMID:26913920|PMID:28492532 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1354186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:9005172 Lung Neoplasms ISO RGD:1354186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26621329 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:9005930 Endotoxemia ISO RGD:620639 D RGD:9068941 20220224 RGD PMID:26337286|REF_RGD_ID:151361133 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:620639 D RGD:9068941 20220224 RGD mRNA:increased expression:right and left ventricles PMID:23794090|REF_RGD_ID:151361111 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:9006618 Liver Metastasis severity ISO RGD:620639 D RGD:9068941 20220224 RGD associated with colon adenocarcinoma PMID:11745822|REF_RGD_ID:151361130 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:9006618 Liver Metastasis severity ISO RGD:620639 D RGD:9068941 20220224 RGD associated with colon cancer PMID:11718450|REF_RGD_ID:151361129 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:620639 D RGD:9068941 20220224 RGD PMID:9200186|REF_RGD_ID:151357001 12038197 SLC7A5 solute carrier family 7 member 5 gene DOID:9256 colorectal cancer severity ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:29344181|REF_RGD_ID:151361284 12038215 GLYR1 glyoxylate reductase 1 homolog gene DOID:0050651 atrioventricular septal defect ISO RGD:1319811 D RGD:9068941 20220825 MouseDO OMIM:600309 | OMIM:606215 | OMIM:614430 | OMIM:614474 12038215 GLYR1 glyoxylate reductase 1 homolog gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1606767 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:28492532 12038215 GLYR1 glyoxylate reductase 1 homolog gene DOID:630 genetic disease ISO RGD:1606767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038245 HES7 hes family bHLH transcription factor 7 gene DOID:0050336 hypophosphatemia ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypophosphatemia PMID:25741868 12038245 HES7 hes family bHLH transcription factor 7 gene DOID:0050568 spondylocostal dysostosis ISO RGD:1314232 D RGD:9068941 20220825 MouseDO 12038245 HES7 hes family bHLH transcription factor 7 gene DOID:0060249 scoliosis ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868 12038245 HES7 hes family bHLH transcription factor 7 gene DOID:0080006 bone development disease ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 12038245 HES7 hes family bHLH transcription factor 7 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1314231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12038245 HES7 hes family bHLH transcription factor 7 gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:1314231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:28492532 12038245 HES7 hes family bHLH transcription factor 7 gene DOID:0112362 spondylocostal dysostosis 2 ISO RGD:1314231 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive PMID:18775957 12038245 HES7 hes family bHLH transcription factor 7 gene DOID:0112364 spondylocostal dysostosis 4 ISO RGD:1314231 D RGD:7240710 20180130 OMIM 12038245 HES7 hes family bHLH transcription factor 7 gene DOID:0112364 spondylocostal dysostosis 4 ISO RGD:1314231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 4, autosomal recessive PMID:18775957|PMID:20087400|PMID:23897666|PMID:25741868|PMID:28492532 12038245 HES7 hes family bHLH transcription factor 7 gene DOID:1059 intellectual disability ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 12038245 HES7 hes family bHLH transcription factor 7 gene DOID:10907 microcephaly ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Progressive microcephaly PMID:25741868 12038245 HES7 hes family bHLH transcription factor 7 gene DOID:11502 mitral valve insufficiency ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitral regurgitation PMID:25741868 12038245 HES7 hes family bHLH transcription factor 7 gene DOID:12177 common variable immunodeficiency ISO RGD:1314231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12038245 HES7 hes family bHLH transcription factor 7 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1314231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12038245 HES7 hes family bHLH transcription factor 7 gene DOID:2340 craniosynostosis ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brachycephaly PMID:25741868 12038245 HES7 hes family bHLH transcription factor 7 gene DOID:2729 dyskeratosis congenita ISO RGD:1314231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12038245 HES7 hes family bHLH transcription factor 7 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1314231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 12038245 HES7 hes family bHLH transcription factor 7 gene DOID:630 genetic disease ISO RGD:1314231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12038245 HES7 hes family bHLH transcription factor 7 gene DOID:9003430 Sprengel Deformity ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sprengel's shoulder PMID:25741868 12038245 HES7 hes family bHLH transcription factor 7 gene DOID:9006006 Spondylocostal Dysostosis, Autosomal Recessive ISO RGD:12315095 D RGD:9068941 20210604 OMIA Spondylocostal dysostosis, autosomal recessive PMID:25659135 12038245 HES7 hes family bHLH transcription factor 7 gene DOID:9006006 Spondylocostal Dysostosis, Autosomal Recessive ISO RGD:1314231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12038245 HES7 hes family bHLH transcription factor 7 gene DOID:9007661 Dwarfism ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Disproportionate short stature PMID:25741868 12038254 KRBOX5 KRAB box domain containing 5 gene DOID:630 genetic disease ISO RGD:30308386 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038291 G2E3 G2/M-phase specific E3 ubiquitin protein ligase gene DOID:630 genetic disease ISO RGD:1321062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038291 G2E3 G2/M-phase specific E3 ubiquitin protein ligase gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321062 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12038325 HHATL hedgehog acyltransferase like gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1344894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 12038325 HHATL hedgehog acyltransferase like gene DOID:630 genetic disease ISO RGD:1344894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038347 PTGER2 prostaglandin E receptor 2 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1342884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to PMID:15496426 12038347 PTGER2 prostaglandin E receptor 2 gene DOID:0111579 asthma, nasal polyps, and aspirin intolerance ISO RGD:1342884 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 12038347 PTGER2 prostaglandin E receptor 2 gene DOID:0111579 asthma, nasal polyps, and aspirin intolerance susceptibility ISO RGD:1342884 D RGD:7240710 20230505 OMIM 12038347 PTGER2 prostaglandin E receptor 2 gene DOID:1876 sexual dysfunction ISO RGD:1342884 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18726914 12038347 PTGER2 prostaglandin E receptor 2 gene DOID:289 endometriosis ISO RGD:1342884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19407222 12038347 PTGER2 prostaglandin E receptor 2 gene DOID:5223 infertility ISO RGD:1342884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10359563 12038347 PTGER2 prostaglandin E receptor 2 gene DOID:630 genetic disease ISO RGD:1342884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038347 PTGER2 prostaglandin E receptor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12038353 LRPPRC leucine rich pentatricopeptide repeat containing gene DOID:0090019 sitosterolemia ISO RGD:1315270 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sitosterolemia PMID:28492532 12038353 LRPPRC leucine rich pentatricopeptide repeat containing gene DOID:0111180 French Canadian Leigh disease ISO RGD:1315270 D RGD:7240710 20180130 OMIM 12038353 LRPPRC leucine rich pentatricopeptide repeat containing gene DOID:0111180 French Canadian Leigh disease ISO RGD:1315270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cytochrome c oxidase deficiency, French Canadian type | ClinVar Annotator: match by term: Leigh syndrome, French Canadian type | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 PMID:12529507|PMID:15139850|PMID:16199547|PMID:17050673|PMID:17576681|PMID:18414213|PMID:20200222|PMID:21266382|PMID:21437181|PMID:22494076|PMID:24033266|PMID:25741868|PMID:26510951|PMID:26741492|PMID:27408822|PMID:27574110|PMID:28492532|PMID:29152527|PMID:31308188|PMID:32962729|PMID:33658040|PMID:34440436|PMID:9536098 12038353 LRPPRC leucine rich pentatricopeptide repeat containing gene DOID:1059 intellectual disability ISO RGD:1315270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 12038353 LRPPRC leucine rich pentatricopeptide repeat containing gene DOID:1826 epilepsy ISO RGD:1315270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12038353 LRPPRC leucine rich pentatricopeptide repeat containing gene DOID:3652 Leigh disease ISO RGD:1315270 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:28492532 12038353 LRPPRC leucine rich pentatricopeptide repeat containing gene DOID:3883 Lynch syndrome ISO RGD:1315270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12038353 LRPPRC leucine rich pentatricopeptide repeat containing gene DOID:630 genetic disease ISO RGD:1315270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:34440436 12038353 LRPPRC leucine rich pentatricopeptide repeat containing gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1315270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:28492532 12038394 TMEM177 transmembrane protein 177 gene DOID:630 genetic disease ISO RGD:1606772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038416 PPM1B protein phosphatase, Mg2+/Mn2+ dependent 1B gene DOID:0060858 hypotonia-cystinuria syndrome ISO RGD:733846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 12038416 PPM1B protein phosphatase, Mg2+/Mn2+ dependent 1B gene DOID:3883 Lynch syndrome ISO RGD:733846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12038416 PPM1B protein phosphatase, Mg2+/Mn2+ dependent 1B gene DOID:630 genetic disease ISO RGD:733846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038416 PPM1B protein phosphatase, Mg2+/Mn2+ dependent 1B gene DOID:9007102 Myocardial Ischemia ISO RGD:733846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12038428 TMEM247 transmembrane protein 247 gene DOID:3883 Lynch syndrome ISO RGD:6482527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12038428 TMEM247 transmembrane protein 247 gene DOID:630 genetic disease ISO RGD:6482527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038438 PASD1 PAS domain containing repressor 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12038438 PASD1 PAS domain containing repressor 1 gene DOID:12849 autistic disorder ISO RGD:1346433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12038438 PASD1 PAS domain containing repressor 1 gene DOID:630 genetic disease ISO RGD:1346433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038458 LOC100975943 transmembrane epididymal protein 1 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1606464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 12038458 LOC100975943 transmembrane epididymal protein 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12038458 LOC100975943 transmembrane epididymal protein 1 gene DOID:630 genetic disease ISO RGD:1606464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038458 LOC100975943 transmembrane epididymal protein 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1606464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12038458 LOC100975943 transmembrane epididymal protein 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12038464 LOC100976330 olfactory receptor 2L5 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1346281 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12038464 LOC100976330 olfactory receptor 2L5 gene DOID:1540 parathyroid carcinoma ISO RGD:1346281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12038464 LOC100976330 olfactory receptor 2L5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12038464 LOC100976330 olfactory receptor 2L5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12038467 FOXO3 forkhead box O3 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1319403 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 12038467 FOXO3 forkhead box O3 gene DOID:0050902 medulloblastoma ISO RGD:1319403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:26822237 12038467 FOXO3 forkhead box O3 gene DOID:0080147 lymphoblastic lymphoma ISO RGD:1553155 D RGD:9068941 20221027 RGD PMID:17254969|REF_RGD_ID:155630604 12038467 FOXO3 forkhead box O3 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1319403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12038467 FOXO3 forkhead box O3 gene DOID:10283 prostate cancer ISO RGD:1319403 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:lower in tumor vs adjacent normal tissue (p<0.05 compared to at least one housekeeping gene) PMID:18336616|REF_RGD_ID:2301729 12038467 FOXO3 forkhead box O3 gene DOID:10652 Alzheimer's disease ISO RGD:1319403 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:23585551|REF_RGD_ID:7327146 12038467 FOXO3 forkhead box O3 gene DOID:10652 Alzheimer's disease ISO RGD:1319403 D RGD:9068941 20200609 RGD protein:increased expression:lymphoblast,nucleus: PMID:23153928|REF_RGD_ID:10402185 12038467 FOXO3 forkhead box O3 gene DOID:10652 Alzheimer's disease ISO RGD:1553155 D RGD:9068941 20200609 RGD protein:altered expression:cortical neuron,nucleus: PMID:23661003|REF_RGD_ID:10402187 12038467 FOXO3 forkhead box O3 gene DOID:10652 Alzheimer's disease ISO RGD:1553155 D RGD:9068941 20211126 RGD protein:increased expression:hippocampal neuron (mouse) PMID:28157684|REF_RGD_ID:11061905 12038467 FOXO3 forkhead box O3 gene DOID:1824 status epilepticus ISO RGD:1553155 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus,mitochondrion: PMID:23278239|REF_RGD_ID:10402198 12038467 FOXO3 forkhead box O3 gene DOID:255 hemangioma ISO RGD:1553155 D RGD:9068941 20221027 RGD PMID:17254969|REF_RGD_ID:155630604 12038467 FOXO3 forkhead box O3 gene DOID:2870 endometrial adenocarcinoma severity ISO RGD:1319403 D RGD:9068941 20200609 RGD associated with Obesity;protein:decreased expression:endometrium (human) PMID:26045339|REF_RGD_ID:11530998 12038467 FOXO3 forkhead box O3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1319403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23099361 12038467 FOXO3 forkhead box O3 gene DOID:3328 temporal lobe epilepsy ISO RGD:1319403 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus,mitochondrion: PMID:23278239|REF_RGD_ID:10402198 12038467 FOXO3 forkhead box O3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1319403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19380174 12038467 FOXO3 forkhead box O3 gene DOID:3910 lung adenocarcinoma ISO RGD:1319403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19380174 12038467 FOXO3 forkhead box O3 gene DOID:5082 liver cirrhosis ISO RGD:1319403 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:33372984 12038467 FOXO3 forkhead box O3 gene DOID:5117 dermoid cyst of ovary ISO RGD:1553155 D RGD:9068941 20220825 MouseDO OMIM:166950 12038467 FOXO3 forkhead box O3 gene DOID:5648 choroid plexus carcinoma ISO RGD:1319403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Choroid plexus carcinoma PMID:26822237 12038467 FOXO3 forkhead box O3 gene DOID:630 genetic disease ISO RGD:1319403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038467 FOXO3 forkhead box O3 gene DOID:7148 rheumatoid arthritis ISO RGD:1319403 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:peripheral blood mononuclear cell, polymorphonuclear cell,synovium: PMID:19435720|REF_RGD_ID:10402186 12038467 FOXO3 forkhead box O3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1309196 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord,neuron, astrocyte: PMID:22930444|REF_RGD_ID:10402202 12038467 FOXO3 forkhead box O3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1319403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27742544 12038467 FOXO3 forkhead box O3 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1309196 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex,nucleus: PMID:24229603|REF_RGD_ID:10402203 12038467 FOXO3 forkhead box O3 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1309196 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:decreased phosphorylation:heart: PMID:18192848|REF_RGD_ID:2293330 12038467 FOXO3 forkhead box O3 gene DOID:9004994 Embryo Loss ISO RGD:1319403 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038060 12038467 FOXO3 forkhead box O3 gene DOID:9005396 Intimal Hyperplasia ISO RGD:1319403 D RGD:9068941 20200609 RGD PMID:15662024|REF_RGD_ID:10402197 12038467 FOXO3 forkhead box O3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1309196 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver: PMID:12683947|REF_RGD_ID:10402199 12038467 FOXO3 forkhead box O3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1309196 D RGD:9068941 20200609 RGD protein:increased phosphorylation, increased expression:glomerulus, cytoplasm: PMID:17082237|REF_RGD_ID:10402196 12038467 FOXO3 forkhead box O3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1319403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23090186|PMID:23792339 12038467 FOXO3 forkhead box O3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1553155 D RGD:9068941 20200609 RGD protein:increased phosphorylation, increased expression:glomerulus, cytoplasm: PMID:17082237|REF_RGD_ID:10402196 12038467 FOXO3 forkhead box O3 gene DOID:9006182 Carotid Artery Injuries ISO RGD:1309196 D RGD:9068941 20200609 RGD PMID:15662024|REF_RGD_ID:10402197 12038467 FOXO3 forkhead box O3 gene DOID:9007479 Habitual Abortions ISO RGD:1319403 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038060 12038467 FOXO3 forkhead box O3 gene DOID:9970 obesity ISO RGD:1309196 D RGD:9068941 20200609 RGD protein:increased expression:myocardium: PMID:16467659|REF_RGD_ID:10402201 12038467 FOXO3 forkhead box O3 gene DOID:9970 obesity ISO RGD:1319403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23954404 12038473 JHY junctional cadherin complex regulator gene DOID:5419 schizophrenia ISO RGD:1605626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12038473 JHY junctional cadherin complex regulator gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12038473 JHY junctional cadherin complex regulator gene DOID:9007661 Dwarfism ISO RGD:1605626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12038490 SPINT1 serine peptidase inhibitor, Kunitz type 1 gene DOID:10286 prostate carcinoma disease_progression ISO RGD:1606832 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland (human) PMID:16492908|REF_RGD_ID:1581314 12038490 SPINT1 serine peptidase inhibitor, Kunitz type 1 gene DOID:10652 Alzheimer's disease ISO RGD:1606832 D RGD:9068941 20200609 RGD protein:decreased expression:parietal cortex (human) PMID:9743567|REF_RGD_ID:1581317 12038490 SPINT1 serine peptidase inhibitor, Kunitz type 1 gene DOID:12236 primary biliary cholangitis ISO RGD:1550885 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:21898507|REF_RGD_ID:10043111 12038490 SPINT1 serine peptidase inhibitor, Kunitz type 1 gene DOID:13580 cholestasis ISO RGD:1550885 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:21898507|REF_RGD_ID:10043111 12038490 SPINT1 serine peptidase inhibitor, Kunitz type 1 gene DOID:13608 biliary atresia disease_progression ISO RGD:1606832 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:21898507|REF_RGD_ID:10043111 12038490 SPINT1 serine peptidase inhibitor, Kunitz type 1 gene DOID:1612 breast cancer severity ISO RGD:1606832 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast (human) PMID:14734471|REF_RGD_ID:1581315 12038490 SPINT1 serine peptidase inhibitor, Kunitz type 1 gene DOID:1697 ichthyosis ISO RGD:1550885 D RGD:9068941 20200609 RGD PMID:18832587|REF_RGD_ID:10043094 12038490 SPINT1 serine peptidase inhibitor, Kunitz type 1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1606832 D RGD:9068941 20200609 RGD protein:decreased expression:ovarian epithelium (human) PMID:11948120|REF_RGD_ID:1581316 12038490 SPINT1 serine peptidase inhibitor, Kunitz type 1 gene DOID:2717 Bloom syndrome ISO RGD:1606832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12038490 SPINT1 serine peptidase inhibitor, Kunitz type 1 gene DOID:5082 liver cirrhosis ISO RGD:1303138 D RGD:9068941 20200609 RGD mRNA:increased expression:spleen: PMID:15086199|REF_RGD_ID:10043112 12038490 SPINT1 serine peptidase inhibitor, Kunitz type 1 gene DOID:5517 stomach carcinoma severity ISO RGD:1606832 D RGD:9068941 20200609 RGD mRNA:decreased expression:stomach (human) PMID:16273651|REF_RGD_ID:1581312 12038490 SPINT1 serine peptidase inhibitor, Kunitz type 1 gene DOID:630 genetic disease ISO RGD:1606832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038490 SPINT1 serine peptidase inhibitor, Kunitz type 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1606832 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon (human) PMID:16820046|REF_RGD_ID:1581311 12038490 SPINT1 serine peptidase inhibitor, Kunitz type 1 gene DOID:9256 colorectal cancer ISO RGD:1606832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12038513 CLCA2 chloride channel accessory 2 gene DOID:630 genetic disease ISO RGD:1312594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038513 CLCA2 chloride channel accessory 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1312594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12038531 UBR7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:0080054 achondrogenesis type IA ISO RGD:1344986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12038531 UBR7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:0081063 DICER1 syndrome ISO RGD:1344986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 12038531 UBR7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:1059 intellectual disability ISO RGD:1344986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12038531 UBR7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:2843 long QT syndrome ISO RGD:1344986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12038531 UBR7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:630 genetic disease ISO RGD:1344986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038531 UBR7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:9003293 Li-Campeau Syndrome ISO RGD:1344986 D RGD:7240710 20210303 OMIM 12038531 UBR7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:9003293 Li-Campeau Syndrome ISO RGD:1344986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Li-Campeau syndrome PMID:25741868|PMID:33340455 12038531 UBR7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:9008086 Developmental Disabilities ISO RGD:1344986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12038551 WTIP WT1 interacting protein gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1343375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12038551 WTIP WT1 interacting protein gene DOID:630 genetic disease ISO RGD:1343375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038562 MSRB2 methionine sulfoxide reductase B2 gene DOID:630 genetic disease ISO RGD:1345900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038570 PHYH phytanoyl-CoA 2-hydroxylase gene DOID:0050567 orofacial cleft ISO RGD:731796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic cleft lip palate PMID:10767344|PMID:14974078|PMID:16186124|PMID:25741868|PMID:27229527|PMID:28492532 12038570 PHYH phytanoyl-CoA 2-hydroxylase gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:731796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12038570 PHYH phytanoyl-CoA 2-hydroxylase gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:620317 D RGD:9068941 20200609 RGD PMID:29031784|REF_RGD_ID:13831310 12038570 PHYH phytanoyl-CoA 2-hydroxylase gene DOID:0080884 vitamin D-dependent rickets type 2A ISO RGD:731796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL PMID:10767344|PMID:14974078|PMID:16186124|PMID:25741868|PMID:27229527|PMID:28492532 12038570 PHYH phytanoyl-CoA 2-hydroxylase gene DOID:10582 Refsum disease ISO RGD:731796 D RGD:7240710 20180130 OMIM 12038570 PHYH phytanoyl-CoA 2-hydroxylase gene DOID:10582 Refsum disease ISO RGD:731796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phytanic acid oxidase deficiency | ClinVar Annotator: match by term: Phytanic acid storage disease | ClinVar Annotator: match by term: Refsum syndrome PMID:10767344|PMID:11555634|PMID:1155634|PMID:11948235|PMID:14974078|PMID:16186124|PMID:16199547|PMID:17576681|PMID:17905308|PMID:18612766|PMID:20818383|PMID:24033266|PMID:25472526|PMID:25525159|PMID:25741868|PMID:27229527|PMID:28041643|PMID:28470644|PMID:28492532|PMID:28681609|PMID:31240149|PMID:31456290|PMID:9326939|PMID:9326940|PMID:9536098|PMID:9657395 12038570 PHYH phytanoyl-CoA 2-hydroxylase gene DOID:10584 retinitis pigmentosa ISO RGD:731796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10767344|PMID:11555634|PMID:1155634|PMID:11948235|PMID:14974078|PMID:17905308|PMID:18612766|PMID:20818383|PMID:25525159|PMID:25741868|PMID:28041643|PMID:28470644|PMID:28492532|PMID:28681609|PMID:31240149|PMID:9326939|PMID:9326940|PMID:9657395 12038570 PHYH phytanoyl-CoA 2-hydroxylase gene DOID:630 genetic disease ISO RGD:731796 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10767344|PMID:11555634|PMID:1155634|PMID:14974078|PMID:25741868|PMID:28041643|PMID:28492532|PMID:9326939|PMID:9657395 12038570 PHYH phytanoyl-CoA 2-hydroxylase gene DOID:8501 fundus dystrophy ISO RGD:731796 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10767344|PMID:11555634|PMID:14974078|PMID:16199547|PMID:20818383|PMID:25741868|PMID:28041643|PMID:28492532|PMID:9326940 12038570 PHYH phytanoyl-CoA 2-hydroxylase gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:731796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS PMID:10767344|PMID:14974078|PMID:16186124|PMID:25741868|PMID:27229527|PMID:28492532 12038570 PHYH phytanoyl-CoA 2-hydroxylase gene DOID:9003094 Adult Refsum Disease, 1 ISO RGD:731796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Refsum disease, adult, 1 PMID:10767344|PMID:11555634|PMID:1155634|PMID:11948235|PMID:14974078|PMID:17905308|PMID:18612766|PMID:2433405|PMID:25525159|PMID:25741868|PMID:28041643|PMID:28470644|PMID:28492532|PMID:28681609|PMID:31240149|PMID:9326939|PMID:9326940|PMID:9657395 12038570 PHYH phytanoyl-CoA 2-hydroxylase gene DOID:9007505 Familial Hypophosphatemic Rickets ISO RGD:731796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT PMID:10767344|PMID:14974078|PMID:16186124|PMID:25741868|PMID:27229527|PMID:28492532 12038570 PHYH phytanoyl-CoA 2-hydroxylase gene DOID:905 Zellweger syndrome ISO RGD:731796 D RGD:9068941 20200609 RGD PMID:10709665|PMID:8954107|REF_RGD_ID:13831312|REF_RGD_ID:13831337 12038570 PHYH phytanoyl-CoA 2-hydroxylase gene DOID:906 peroxisomal disease ISO RGD:731796 D RGD:9068941 20200609 RGD PMID:9266377|REF_RGD_ID:13831311 12038580 SPATA24 spermatogenesis associated 24 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:3005862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12038580 SPATA24 spermatogenesis associated 24 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:3005862 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12038580 SPATA24 spermatogenesis associated 24 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:3005862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 12038580 SPATA24 spermatogenesis associated 24 gene DOID:630 genetic disease ISO RGD:3005862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12038580 SPATA24 spermatogenesis associated 24 gene DOID:9003318 Keratoconus 1 ISO RGD:3005862 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Keratoconus 1 12038580 SPATA24 spermatogenesis associated 24 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:3005862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12038580 SPATA24 spermatogenesis associated 24 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:3005862 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12038597 THEM6 thioesterase superfamily member 6 gene DOID:630 genetic disease ISO RGD:1602485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038603 INKA1 inka box actin regulator 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12038603 INKA1 inka box actin regulator 1 gene DOID:0080600 COVID-19 ISO RGD:1602805 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12038603 INKA1 inka box actin regulator 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12038603 INKA1 inka box actin regulator 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1602805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12038610 MKRN3 makorin ring finger protein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1322529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 12038610 MKRN3 makorin ring finger protein 3 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1322529 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 12038610 MKRN3 makorin ring finger protein 3 gene DOID:0112309 central precocious puberty 2 ISO RGD:1322529 D RGD:7240710 20180130 OMIM 12038610 MKRN3 makorin ring finger protein 3 gene DOID:0112309 central precocious puberty 2 ISO RGD:1322529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Precocious puberty, central, 2 PMID:23738509|PMID:25741868|PMID:26431553|PMID:28672280 12038610 MKRN3 makorin ring finger protein 3 gene DOID:11983 Prader-Willi syndrome ISO RGD:1322529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 12038610 MKRN3 makorin ring finger protein 3 gene DOID:12849 autistic disorder ISO RGD:1322529 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 12038610 MKRN3 makorin ring finger protein 3 gene DOID:1932 Angelman syndrome ISO RGD:1322529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:24088041|PMID:26633545 12038610 MKRN3 makorin ring finger protein 3 gene DOID:5419 schizophrenia ISO RGD:1322529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12038610 MKRN3 makorin ring finger protein 3 gene DOID:630 genetic disease ISO RGD:1322529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12038610 MKRN3 makorin ring finger protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12038610 MKRN3 makorin ring finger protein 3 gene DOID:9007284 Precocious Puberty ISO RGD:1322529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23738509 12038620 RBAK RB associated KRAB zinc finger gene DOID:10283 prostate cancer ISO RGD:1602691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12038620 RBAK RB associated KRAB zinc finger gene DOID:11372 megacolon ISO RGD:1602691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12038620 RBAK RB associated KRAB zinc finger gene DOID:630 genetic disease ISO RGD:1602691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038633 ACYP1 acylphosphatase 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1351089 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:23352160|PMID:23773996|PMID:24386122|PMID:24767253|PMID:25741868|PMID:25764212|PMID:26981555|PMID:27792009|PMID:28492532|PMID:29928259|PMID:30548430 12038633 ACYP1 acylphosphatase 1 gene DOID:0070114 Niemann-Pick disease type C2 ISO RGD:1351089 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C2 PMID:12955717|PMID:15937921|PMID:23352160|PMID:23773996|PMID:24386122|PMID:24767253|PMID:25558065|PMID:25741868|PMID:25764212|PMID:26981555|PMID:27792009|PMID:28492532|PMID:29928259|PMID:30548430 12038633 ACYP1 acylphosphatase 1 gene DOID:1059 intellectual disability ISO RGD:1351089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12038633 ACYP1 acylphosphatase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1351089 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:12955717|PMID:15937921|PMID:25558065|PMID:25741868|PMID:25764212|PMID:28492532 12038647 APOB apolipoprotein B gene DOID:0050952 spastic ataxia ISO RGD:735787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 12038647 APOB apolipoprotein B gene DOID:0080665 warfarin resistance ISO RGD:735787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coumarin resistance PMID:25741868|PMID:26467025|PMID:28492532 12038647 APOB apolipoprotein B gene DOID:0080666 warfarin sensitivity ISO RGD:735787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Warfarin sensitivity PMID:25741868|PMID:26467025|PMID:28492532 12038647 APOB apolipoprotein B gene DOID:0090028 familial isolated deficiency of vitamin E ISO RGD:735787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18458655 12038647 APOB apolipoprotein B gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:735787 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:14732481|PMID:20981092|PMID:21408211|PMID:24033266|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27153395|PMID:28008009|PMID:28492532|PMID:30270084|PMID:30782561|PMID:31150472 12038647 APOB apolipoprotein B gene DOID:0111061 familial hypobetalipoproteinemia 2 ISO RGD:735788 D RGD:9068941 20220825 MouseDO OMIM:605019 12038647 APOB apolipoprotein B gene DOID:0111062 familial hypobetalipoproteinemia 1 ISO RGD:735787 D RGD:7240710 20180130 OMIM 12038647 APOB apolipoprotein B gene DOID:0111062 familial hypobetalipoproteinemia 1 ISO RGD:735787 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 | ClinVar Annotator: match by term: Hypobetalipoproteinemia, normotriglyceridemic PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:12124991|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1424233|PMID:1431583|PMID:14508510|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15514099|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17043676|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:1731805|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:1939657|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24751931|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25335495|PMID:25430706|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28405938|PMID:28428224|PMID:28431867|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:2909827|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29598884|PMID:29870584|PMID:30030251|PMID:30056620|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31570899|PMID:31624253|PMID:31980526|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:34037665|PMID:34297352|PMID:34426522|PMID:34650182|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:3975124|PMID:4031057|PMID:7229035|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12038647 APOB apolipoprotein B gene DOID:10608 celiac disease ISO RGD:735787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 12038647 APOB apolipoprotein B gene DOID:10923 sickle cell anemia treatment ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:24035168|REF_RGD_ID:11354943 12038647 APOB apolipoprotein B gene DOID:1168 familial hyperlipidemia ISO RGD:735787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17658632 12038647 APOB apolipoprotein B gene DOID:1168 familial hyperlipidemia ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:7627691|REF_RGD_ID:1578419 12038647 APOB apolipoprotein B gene DOID:1168 familial hyperlipidemia treatment ISO RGD:735788 D RGD:9068941 20200609 RGD PMID:15716585|REF_RGD_ID:14401726 12038647 APOB apolipoprotein B gene DOID:1184 nephrotic syndrome ISO RGD:2129 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:11135070|REF_RGD_ID:11353965 12038647 APOB apolipoprotein B gene DOID:12241 beta thalassemia ISO RGD:735787 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:9180253|REF_RGD_ID:11354944 12038647 APOB apolipoprotein B gene DOID:1287 cardiovascular system disease ISO RGD:735787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16544732|PMID:17002798 12038647 APOB apolipoprotein B gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:735787 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:27578115|REF_RGD_ID:14695090 12038647 APOB apolipoprotein B gene DOID:13241 Behcet's disease ISO RGD:735787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12074830 12038647 APOB apolipoprotein B gene DOID:13809 familial combined hyperlipidemia ISO RGD:735787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:11941481|PMID:12124991|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1424233|PMID:1431583|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17043676|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18258526|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21059979|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24784157|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26802169|PMID:27153395|PMID:27206935|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28166811|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29261184|PMID:29290422|PMID:29386597|PMID:29572815|PMID:29598884|PMID:30056620|PMID:30122538|PMID:30270084|PMID:30526649|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:33207932|PMID:33269076|PMID:33303402|PMID:3399894|PMID:3473077|PMID:3477815|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12038647 APOB apolipoprotein B gene DOID:13809 familial combined hyperlipidemia ISO RGD:735787 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:1360085|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15797858|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17765246|PMID:1793440|PMID:17964958|PMID:18028451|PMID:18096825|PMID:18222178|PMID:18325181|PMID:18700895|PMID:18710658|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20236128|PMID:20538126|PMID:20736250|PMID:20809525|PMID:21059979|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21657943|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22698793|PMID:2280177|PMID:22883975|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:2375782|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24507774|PMID:24784157|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25741868|PMID:26036859|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26636822|PMID:26643808|PMID:27153395|PMID:27206935|PMID:27497240|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27831900|PMID:27872105|PMID:28008009|PMID:28104544|PMID:28428224|PMID:28492532|PMID:28965616|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29555771|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30420299|PMID:30586733|PMID:30592178|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31150472|PMID:31345425|PMID:31447099|PMID:32719484|PMID:33269076|PMID:33418990|PMID:33740630|PMID:34037665|PMID:3477815|PMID:3771801|PMID:7627691|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9603795|PMID:9654205|PMID:9702952 12038647 APOB apolipoprotein B gene DOID:13809 familial combined hyperlipidemia ISO RGD:735787 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:1360085|PMID:14508510|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21059979|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:28475941|PMID:28492532|PMID:28895539|PMID:28958330|PMID:28965616|PMID:29036232|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29590070|PMID:29598884|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:31570899|PMID:32009526|PMID:32044282|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33020668|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:34037665|PMID:34297352|PMID:34650182|PMID:3477815|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12038647 APOB apolipoprotein B gene DOID:13809 familial combined hyperlipidemia ISO RGD:735787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11941481|PMID:12124991|PMID:1360085|PMID:14508510|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28405938|PMID:28428224|PMID:28431867|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:29036232|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29590070|PMID:29598884|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:31570899|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:34037665|PMID:34297352|PMID:34650182|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12038647 APOB apolipoprotein B gene DOID:13809 familial combined hyperlipidemia ISO RGD:735787 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:12124991|PMID:1360085|PMID:14508510|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21270786|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25741868|PMID:25974703|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28405938|PMID:28428224|PMID:28431867|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:29036232|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29590070|PMID:29598884|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:31570899|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:34037665|PMID:34297352|PMID:34650182|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12038647 APOB apolipoprotein B gene DOID:13809 familial combined hyperlipidemia ISO RGD:735787 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:12124991|PMID:12872264|PMID:1360085|PMID:14508510|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15514099|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25430706|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28405938|PMID:28428224|PMID:28431867|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:29036232|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29598884|PMID:29870584|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31570899|PMID:31624253|PMID:31980526|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:34037665|PMID:34297352|PMID:34426522|PMID:34650182|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12038647 APOB apolipoprotein B gene DOID:13810 familial hypercholesterolemia ISO RGD:735787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia 1 | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11941481|PMID:12031600|PMID:1360085|PMID:1424233|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18258526|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21059979|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24784157|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:2574033|PMID:25741868|PMID:25741869|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26361156|PMID:26415676|PMID:26467025|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26802169|PMID:27153395|PMID:27206935|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28166811|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29261184|PMID:29290422|PMID:29386597|PMID:29572815|PMID:29598884|PMID:30056620|PMID:30076208|PMID:30122538|PMID:30270084|PMID:30526649|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:33269076|PMID:33303402|PMID:3477815|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12038647 APOB apolipoprotein B gene DOID:13810 familial hypercholesterolemia ISO RGD:735787 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:12031600|PMID:12124991|PMID:1360085|PMID:1424233|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21270786|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:2574033|PMID:25741868|PMID:25741869|PMID:25974703|PMID:26020417|PMID:26036859|PMID:26064709|PMID:2614276|PMID:26332594|PMID:26361156|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29396286|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29590070|PMID:29598884|PMID:30030251|PMID:30056620|PMID:30076208|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30389453|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:31570899|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33137929|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:34037665|PMID:34297352|PMID:34650182|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8354962|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12038647 APOB apolipoprotein B gene DOID:13810 familial hypercholesterolemia ISO RGD:735787 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:12031600|PMID:12124991|PMID:1360085|PMID:1424233|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:2574033|PMID:25741868|PMID:25741869|PMID:26020417|PMID:26036859|PMID:26064709|PMID:2614276|PMID:26332594|PMID:26361156|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29396286|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29598884|PMID:29870584|PMID:30030251|PMID:30056620|PMID:30076208|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30389453|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31570899|PMID:31624253|PMID:31980526|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33137929|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:34037665|PMID:34297352|PMID:34426522|PMID:34650182|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8354962|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12038647 APOB apolipoprotein B gene DOID:1390 hypobetalipoproteinemia ISO RGD:735787 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, FAMILIAL | ClinVar Annotator: match by term: Hypobetalipoproteinemia PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:12124991|PMID:12872264|PMID:1360085|PMID:1424233|PMID:1431583|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15514099|PMID:1562615|PMID:15797858|PMID:15805152|PMID:1600334|PMID:1602000|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:2022744|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:21981844|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:2312735|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24751931|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25335495|PMID:25430706|PMID:25461735|PMID:2563166|PMID:25647241|PMID:2567736|PMID:2574033|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:2614276|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29598884|PMID:29870584|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31570899|PMID:31624253|PMID:31980526|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:3399894|PMID:34037665|PMID:34297352|PMID:34426522|PMID:34650182|PMID:3473077|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8792774|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12038647 APOB apolipoprotein B gene DOID:1390 hypobetalipoproteinemia susceptibility ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:3473077|REF_RGD_ID:1599164 12038647 APOB apolipoprotein B gene DOID:1712 aortic valve stenosis ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:11903341|REF_RGD_ID:1578425 12038647 APOB apolipoprotein B gene DOID:2349 arteriosclerosis ISO RGD:735787 D RGD:9068941 20200609 RGD associated with Obesity PMID:19260948|REF_RGD_ID:2312763 12038647 APOB apolipoprotein B gene DOID:2394 ovarian cancer severity ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:9023386|REF_RGD_ID:11354936 12038647 APOB apolipoprotein B gene DOID:3121 gallbladder cancer ISO RGD:735787 D RGD:9068941 20200609 RGD DNA:SNP: :rs693 (human) PMID:20082485|REF_RGD_ID:2325761 12038647 APOB apolipoprotein B gene DOID:3121 gallbladder cancer susceptibility ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:17696941|REF_RGD_ID:2325764 12038647 APOB apolipoprotein B gene DOID:3393 coronary artery disease ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:9585673|REF_RGD_ID:1578418 12038647 APOB apolipoprotein B gene DOID:3393 coronary artery disease no_association ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:1732399|REF_RGD_ID:1578417 12038647 APOB apolipoprotein B gene DOID:3526 cerebral infarction ISO RGD:735787 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:2352345|REF_RGD_ID:2313973 12038647 APOB apolipoprotein B gene DOID:4606 bile duct cancer susceptibility ISO RGD:735787 D RGD:9068941 20200609 RGD DNA:polymorphisms:intron, exon:IVS6+360C>T, 56C>T (human) PMID:18296645|REF_RGD_ID:2317550 12038647 APOB apolipoprotein B gene DOID:4607 biliary tract cancer ISO RGD:735787 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18076041|REF_RGD_ID:2325763 12038647 APOB apolipoprotein B gene DOID:4608 common bile duct neoplasm ISO RGD:735787 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18076041|REF_RGD_ID:2325763 12038647 APOB apolipoprotein B gene DOID:630 genetic disease ISO RGD:735787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26361156|PMID:28492532 12038647 APOB apolipoprotein B gene DOID:684 hepatocellular carcinoma ISO RGD:735787 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 12038647 APOB apolipoprotein B gene DOID:8947 diabetic retinopathy ISO RGD:735787 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:19448981|REF_RGD_ID:2313976 12038647 APOB apolipoprotein B gene DOID:9000185 Coumarin Sensitivity ISO RGD:735787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COUMARIN SENSITIVITY PMID:25741868|PMID:26467025|PMID:28492532 12038647 APOB apolipoprotein B gene DOID:9000528 Coronary Disease ISO RGD:735787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early-onset coronary artery disease 12038647 APOB apolipoprotein B gene DOID:9000543 Death ISO RGD:735787 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:19412820|REF_RGD_ID:2313977 12038647 APOB apolipoprotein B gene DOID:9000699 Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B ISO RGD:735787 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE | ClinVar Annotator: match by term: APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:12124991|PMID:12872264|PMID:1360085|PMID:14508510|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15514099|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25430706|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28405938|PMID:28428224|PMID:28431867|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:29036232|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29598884|PMID:29870584|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31570899|PMID:31624253|PMID:31980526|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:34037665|PMID:34297352|PMID:34426522|PMID:34650182|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12038647 APOB apolipoprotein B gene DOID:9000808 Hypercholesterolemia ISO RGD:735787 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia PMID:20657596|PMID:22923420|PMID:24033266|PMID:25647241|PMID:25741868|PMID:26415676|PMID:26467025|PMID:27578127|PMID:28492532 12038647 APOB apolipoprotein B gene DOID:9002123 Familial Hypobetalipoproteinemia, Apolipoprotein B ISO RGD:735787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2567736|PMID:2843815|PMID:3473077 12038647 APOB apolipoprotein B gene DOID:9002165 Diabetic Nephropathies ISO RGD:735787 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:19324028|REF_RGD_ID:2313979 12038647 APOB apolipoprotein B gene DOID:9003370 Dyslipidemias ISO RGD:735787 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18230960 12038647 APOB apolipoprotein B gene DOID:9004262 Isolated Systolic Hypertension ISO RGD:735787 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated systolic hypertension PMID:25741868|PMID:28492532 12038647 APOB apolipoprotein B gene DOID:9005308 Hypercholesterolemia, Autosomal Dominant, 3 ISO RGD:735787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 PMID:25741868 12038647 APOB apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:7240710 20180130 OMIM 12038647 APOB apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:12124991|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1424233|PMID:1431583|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17043676|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18258526|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21059979|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24784157|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26802169|PMID:27153395|PMID:27206935|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29555771|PMID:29572815|PMID:29598884|PMID:30030251|PMID:30056620|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:32719484|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33740630|PMID:3399894|PMID:34037665|PMID:3473077|PMID:3477815|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12038647 APOB apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1431583|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29590070|PMID:29598884|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:31570899|PMID:32009526|PMID:32044282|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33020668|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:3399894|PMID:34037665|PMID:34297352|PMID:34650182|PMID:3473077|PMID:3477815|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12038647 APOB apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:12124991|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1431583|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:2022744|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25741868|PMID:25741869|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29590070|PMID:29598884|PMID:30030251|PMID:30076208|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:31570899|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33137929|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:3399894|PMID:34037665|PMID:34297352|PMID:34650182|PMID:3473077|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12038647 APOB apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:11941481|PMID:12124991|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1424233|PMID:1431583|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17043676|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19084451|PMID:1940616|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:2022744|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:2574033|PMID:25741868|PMID:25741869|PMID:26020417|PMID:26036859|PMID:26064709|PMID:2614276|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29590070|PMID:29598884|PMID:30030251|PMID:30056620|PMID:30076208|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:31570899|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33137929|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:3399894|PMID:34037665|PMID:34297352|PMID:34650182|PMID:3473077|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:7947592|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8354962|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12038647 APOB apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:12124991|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1424233|PMID:1431583|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17043676|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19084451|PMID:1940616|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:2022744|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:2574033|PMID:25741868|PMID:25741869|PMID:26020417|PMID:26036859|PMID:26064709|PMID:2614276|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29590070|PMID:29598884|PMID:30030251|PMID:30056620|PMID:30076208|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:31570899|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33137929|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:3399894|PMID:34037665|PMID:34297352|PMID:34650182|PMID:3473077|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:7947592|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8354962|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12038647 APOB apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:12124991|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1424233|PMID:1431583|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15514099|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17043676|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19084451|PMID:1940616|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:2022744|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25430706|PMID:25461735|PMID:2563166|PMID:25647241|PMID:2574033|PMID:25741868|PMID:25741869|PMID:26020417|PMID:26036859|PMID:26064709|PMID:2614276|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29598884|PMID:29870584|PMID:30030251|PMID:30056620|PMID:30076208|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31570899|PMID:31624253|PMID:31980526|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33137929|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:3399894|PMID:34037665|PMID:34297352|PMID:34426522|PMID:34650182|PMID:3473077|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:7947592|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8354962|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12038647 APOB apolipoprotein B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2129 D RGD:9068941 20200609 RGD PMID:17292734|REF_RGD_ID:1642185 12038647 APOB apolipoprotein B gene DOID:9005930 Endotoxemia ISO RGD:2129 D RGD:9068941 20200609 RGD PMID:16719989|REF_RGD_ID:1599165 12038647 APOB apolipoprotein B gene DOID:9006599 Hypertriglyceridemia ISO RGD:2129 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:8121310|REF_RGD_ID:11353966 12038647 APOB apolipoprotein B gene DOID:9006599 Hypertriglyceridemia ISO RGD:735787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20657596 12038647 APOB apolipoprotein B gene DOID:9006646 Metabolic Syndrome ISO RGD:735787 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16828905|REF_RGD_ID:1601198 12038647 APOB apolipoprotein B gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:735787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12038647 APOB apolipoprotein B gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735787 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31186542 12038647 APOB apolipoprotein B gene DOID:9007096 Stroke ISO RGD:735787 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stroke PMID:10208479|PMID:10388479|PMID:10735632|PMID:10952765|PMID:11115503|PMID:11137107|PMID:11494965|PMID:11781700|PMID:11810272|PMID:1360085|PMID:14508510|PMID:1466657|PMID:1493642|PMID:15797858|PMID:1600334|PMID:16250003|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17765246|PMID:1793440|PMID:18028451|PMID:18096825|PMID:18222178|PMID:18325181|PMID:18700895|PMID:1977310|PMID:20145306|PMID:20236128|PMID:20736250|PMID:20809525|PMID:21059979|PMID:21310417|PMID:21382890|PMID:21657943|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22698793|PMID:2280177|PMID:22883975|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:2375782|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24507774|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25741868|PMID:26036859|PMID:26415676|PMID:26467025|PMID:26636822|PMID:26643808|PMID:26892515|PMID:27497240|PMID:27765764|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27919364|PMID:28104544|PMID:28428224|PMID:28492532|PMID:28965616|PMID:29261184|PMID:29284604|PMID:29555771|PMID:30030251|PMID:30122538|PMID:30270359|PMID:30592178|PMID:31028937|PMID:31106297|PMID:31345425|PMID:3477815|PMID:3771801|PMID:7627691|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9603795|PMID:9654205 12038647 APOB apolipoprotein B gene DOID:9007102 Myocardial Ischemia ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:9603795|REF_RGD_ID:1578415 12038647 APOB apolipoprotein B gene DOID:9007925 Sudden Cardiac Death ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:17045270|REF_RGD_ID:1601197 12038647 APOB apolipoprotein B gene DOID:9008217 Hemorrhage ISO RGD:735787 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31186542 12038647 APOB apolipoprotein B gene DOID:9351 diabetes mellitus ISO RGD:735787 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:2352345|REF_RGD_ID:2313973 12038647 APOB apolipoprotein B gene DOID:9352 type 2 diabetes mellitus ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:18945923|REF_RGD_ID:2313981 12038647 APOB apolipoprotein B gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:15161783|REF_RGD_ID:11354945 12038647 APOB apolipoprotein B gene DOID:9452 fatty liver disease ISO RGD:2129 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:17203948|REF_RGD_ID:2325770 12038647 APOB apolipoprotein B gene DOID:9452 fatty liver disease ISO RGD:735787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12048068|PMID:17303181 12038647 APOB apolipoprotein B gene DOID:9744 type 1 diabetes mellitus ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:1579407|PMID:19171731|REF_RGD_ID:2313972|REF_RGD_ID:2313980 12038647 APOB apolipoprotein B gene DOID:9970 obesity ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:16752182|REF_RGD_ID:1601202 12038647 APOB apolipoprotein B gene DOID:9970 obesity ISO RGD:735788 D RGD:9068941 20200609 RGD associated with Insulin Resistance;protein:increased expression:plasma PMID:19592617|REF_RGD_ID:2313974 12038683 CLU clusterin gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:68978 D RGD:9068941 20200609 RGD mRNA:decreased expression:conjunctiva PMID:12036968|REF_RGD_ID:8699507 12038683 CLU clusterin gene DOID:0050855 renal fibrosis ISO RGD:3907 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:22052058|REF_RGD_ID:9068421 12038683 CLU clusterin gene DOID:0050855 renal fibrosis ISO RGD:68979 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:22052058|REF_RGD_ID:9068421 12038683 CLU clusterin gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12038683 CLU clusterin gene DOID:0060449 gelatinous drop-like corneal dystrophy ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:10502582|REF_RGD_ID:8699502 12038683 CLU clusterin gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:68978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12038683 CLU clusterin gene DOID:0080000 muscular disease ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:15912881|REF_RGD_ID:1626306 12038683 CLU clusterin gene DOID:0080162 lupus nephritis ISO RGD:68979 D RGD:9068941 20200609 RGD mRNA:increased expression: epithelial cell of renal tubule PMID:9546356|REF_RGD_ID:8890679 12038683 CLU clusterin gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:68978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12038683 CLU clusterin gene DOID:10591 pre-eclampsia ISO RGD:68978 D RGD:9068941 20200609 RGD DNA:SNP:exon:866C>T (human) PMID:15925890|REF_RGD_ID:1581195 12038683 CLU clusterin gene DOID:10652 Alzheimer's disease ISO RGD:68978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:28492532|PMID:29476165 12038683 CLU clusterin gene DOID:10763 hypertension ISO RGD:68978 D RGD:9068941 20200609 RGD DNA:SNP:exon:866C>T (human) PMID:15925890|REF_RGD_ID:1581195 12038683 CLU clusterin gene DOID:11132 prostatic hypertrophy ISO RGD:3907 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland PMID:19443575|REF_RGD_ID:9068410 12038683 CLU clusterin gene DOID:11555 Fuchs' endothelial dystrophy ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:18378577|REF_RGD_ID:8696020 12038683 CLU clusterin gene DOID:11555 Fuchs' endothelial dystrophy ISO RGD:68979 D RGD:9068941 20200609 RGD PMID:22956607|REF_RGD_ID:8661808 12038683 CLU clusterin gene DOID:11656 cicatricial pemphigoid ISO RGD:68978 D RGD:9068941 20200609 RGD mRNA:decreased expression:conjunctiva PMID:12036968|REF_RGD_ID:8699507 12038683 CLU clusterin gene DOID:12306 vitiligo ISO RGD:68979 D RGD:9068941 20200609 RGD PMID:7558712|REF_RGD_ID:8699503 12038683 CLU clusterin gene DOID:13378 Kawasaki disease treatment ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:23956692|REF_RGD_ID:8975365 12038683 CLU clusterin gene DOID:13641 exfoliation syndrome ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:16639006|REF_RGD_ID:8699516 12038683 CLU clusterin gene DOID:13641 exfoliation syndrome ISO RGD:68978 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs2279590 (human) PMID:19182256|PMID:25057782|REF_RGD_ID:8887372|REF_RGD_ID:9068391 12038683 CLU clusterin gene DOID:13641 exfoliation syndrome ISO RGD:68978 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :multiple PMID:18806885|REF_RGD_ID:8699505 12038683 CLU clusterin gene DOID:13641 exfoliation syndrome no_association ISO RGD:68978 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs2279590 (human) PMID:19182256|REF_RGD_ID:8887372 12038683 CLU clusterin gene DOID:1612 breast cancer disease_progression ISO RGD:68978 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.27611345C>G (rs9331888) (human) PMID:22037783|REF_RGD_ID:8963167 12038683 CLU clusterin gene DOID:1749 squamous cell carcinoma severity ISO RGD:68979 D RGD:9068941 20200609 RGD PMID:15126350|REF_RGD_ID:8936706 12038683 CLU clusterin gene DOID:1909 melanoma ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15955107 12038683 CLU clusterin gene DOID:1936 atherosclerosis treatment ISO RGD:3907 D RGD:9068941 20200609 RGD PMID:15961700|REF_RGD_ID:9068390 12038683 CLU clusterin gene DOID:1936 atherosclerosis treatment ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:15961700|REF_RGD_ID:9068390 12038683 CLU clusterin gene DOID:2316 brain ischemia ISO RGD:3907 D RGD:9068941 20200609 RGD PMID:12782389|REF_RGD_ID:727237 12038683 CLU clusterin gene DOID:2351 iron metabolism disease ISO RGD:68979 D RGD:9068941 20200609 RGD PMID:18723004|REF_RGD_ID:2301196 12038683 CLU clusterin gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:3907 D RGD:9068941 20200609 RGD PMID:24118288|REF_RGD_ID:9068419 12038683 CLU clusterin gene DOID:3008 invasive ductal carcinoma ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:10934144|REF_RGD_ID:8699513 12038683 CLU clusterin gene DOID:3021 acute kidney failure ISO RGD:3907 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:22581811|REF_RGD_ID:7245501 12038683 CLU clusterin gene DOID:3021 acute kidney failure ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20118187|PMID:20623750|PMID:22005293|PMID:23052191|PMID:24361871|PMID:28885000 12038683 CLU clusterin gene DOID:3178 skin papilloma ISO RGD:68979 D RGD:9068941 20200609 RGD PMID:11085517|REF_RGD_ID:8746700 12038683 CLU clusterin gene DOID:3393 coronary artery disease ISO RGD:68978 D RGD:9068941 20200609 RGD associated with Mucocutaneous Lymph Node Syndrome;protein:decreased expression:plasma PMID:20711835|REF_RGD_ID:9068393 12038683 CLU clusterin gene DOID:3429 inclusion body myositis ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:15912881|REF_RGD_ID:1626306 12038683 CLU clusterin gene DOID:418 systemic scleroderma ISO RGD:68978 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22350181|REF_RGD_ID:8898558 12038683 CLU clusterin gene DOID:4251 conjunctival disease ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:15584350|REF_RGD_ID:9017974 12038683 CLU clusterin gene DOID:4449 macular retinal edema ISO RGD:68978 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:decreased expression:vitreous humor PMID:23568601|REF_RGD_ID:9068396 12038683 CLU clusterin gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:3907 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:23791361|REF_RGD_ID:9068422 12038683 CLU clusterin gene DOID:4930 nasal cavity adenocarcinoma ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:19903339|REF_RGD_ID:9014708 12038683 CLU clusterin gene DOID:557 kidney disease ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258088|PMID:21593213|PMID:24863737 12038683 CLU clusterin gene DOID:576 proteinuria treatment ISO RGD:3907 D RGD:9068941 20200609 RGD PMID:18274700|REF_RGD_ID:9068435 12038683 CLU clusterin gene DOID:5844 myocardial infarction treatment ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:20854280|REF_RGD_ID:9068409 12038683 CLU clusterin gene DOID:6432 pulmonary hypertension ISO RGD:3907 D RGD:9068941 20200609 RGD PMID:25069740|REF_RGD_ID:9068424 12038683 CLU clusterin gene DOID:676 juvenile rheumatoid arthritis ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12038683 CLU clusterin gene DOID:784 chronic kidney disease ISO RGD:3907 D RGD:9068941 20200609 RGD associated with Obesity;protein:increased expression:urine PMID:24325231|REF_RGD_ID:9068427 12038683 CLU clusterin gene DOID:8398 osteoarthritis ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789|PMID:18784066 12038683 CLU clusterin gene DOID:8466 retinal degeneration treatment ISO RGD:3907 D RGD:9068941 20200609 RGD PMID:18085470|REF_RGD_ID:9068394 12038683 CLU clusterin gene DOID:8691 mycosis fungoides disease_progression ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:23702390|REF_RGD_ID:8923490 12038683 CLU clusterin gene DOID:8893 psoriasis ISO RGD:68978 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:23522962|REF_RGD_ID:9068388 12038683 CLU clusterin gene DOID:8947 diabetic retinopathy treatment ISO RGD:68978 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19875648|REF_RGD_ID:9068395 12038683 CLU clusterin gene DOID:9000081 Lymphatic Metastasis ISO RGD:68978 D RGD:9068941 20200609 RGD associated with breast cancer;DNA:snp:promoter:g.27611345C>G (rs9331888) (human) PMID:22037783|REF_RGD_ID:8963167 12038683 CLU clusterin gene DOID:9000965 Neoplasm Metastasis ISO RGD:68978 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:20307318|REF_RGD_ID:8883512 12038683 CLU clusterin gene DOID:9001725 Retina Reperfusion Injury ISO RGD:3907 D RGD:9068941 20200609 RGD PMID:15139011|REF_RGD_ID:1581194 12038683 CLU clusterin gene DOID:9002055 Chronic Allograft Nephropathy treatment ISO RGD:3907 D RGD:9068941 20200609 RGD PMID:22494435|REF_RGD_ID:9068431 12038683 CLU clusterin gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:3907 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18949565|REF_RGD_ID:9068414 12038683 CLU clusterin gene DOID:9002221 Hyperplasia ISO RGD:68978 D RGD:9068941 20200609 RGD associated with Breast Diseases PMID:10934144|REF_RGD_ID:8699513 12038683 CLU clusterin gene DOID:9002234 Pituitary Neoplasms treatment ISO RGD:68979 D RGD:9068941 20200609 RGD PMID:23051594|REF_RGD_ID:8699506 12038683 CLU clusterin gene DOID:9002304 Prostatic Neoplasms ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17148459 12038683 CLU clusterin gene DOID:9002514 Neointima ISO RGD:68979 D RGD:9068941 20200609 RGD PMID:19696405|PMID:20032585|REF_RGD_ID:8699512|REF_RGD_ID:9068412 12038683 CLU clusterin gene DOID:9002775 Cognitive Dysfunction ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30503753 12038683 CLU clusterin gene DOID:9003204 Neovascularization, Pathologic ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16308731 12038683 CLU clusterin gene DOID:9004462 Atrophy ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21536718 12038683 CLU clusterin gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:23099883|REF_RGD_ID:8699504 12038683 CLU clusterin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3907 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic islet PMID:23351716|REF_RGD_ID:9068411 12038683 CLU clusterin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3907 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:12763621|REF_RGD_ID:9068392 12038683 CLU clusterin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24361871|PMID:28885000 12038683 CLU clusterin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 12038683 CLU clusterin gene DOID:9008091 Optic Nerve Injuries ISO RGD:3907 D RGD:9068941 20200609 RGD PMID:14577867|REF_RGD_ID:5129542 12038683 CLU clusterin gene DOID:9008939 Breast Neoplasms severity ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:17203891|REF_RGD_ID:8729187 12038683 CLU clusterin gene DOID:9008939 Breast Neoplasms treatment ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:22613415|REF_RGD_ID:8764690 12038683 CLU clusterin gene DOID:9074 systemic lupus erythematosus ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15304052 12038683 CLU clusterin gene DOID:9074 systemic lupus erythematosus ISO RGD:68978 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:10090169|REF_RGD_ID:8696021 12038710 SPINT3 serine peptidase inhibitor, Kunitz type 3 gene DOID:2234 focal epilepsy ISO RGD:1353929 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12038710 SPINT3 serine peptidase inhibitor, Kunitz type 3 gene DOID:630 genetic disease ISO RGD:1353929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038710 SPINT3 serine peptidase inhibitor, Kunitz type 3 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1353929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12038716 OGFR opioid growth factor receptor gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12038716 OGFR opioid growth factor receptor gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:737296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12038716 OGFR opioid growth factor receptor gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:737296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12038716 OGFR opioid growth factor receptor gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:737296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 12038716 OGFR opioid growth factor receptor gene DOID:1826 epilepsy ISO RGD:737296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 12038716 OGFR opioid growth factor receptor gene DOID:630 genetic disease ISO RGD:737296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038730 SLC6A6 solute carrier family 6 member 6 gene DOID:0060417 3p deletion syndrome ISO RGD:69004 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12038730 SLC6A6 solute carrier family 6 member 6 gene DOID:10584 retinitis pigmentosa ISO RGD:62205 D RGD:9068941 20220825 MouseDO OMIM:268000 12038730 SLC6A6 solute carrier family 6 member 6 gene DOID:11372 megacolon ISO RGD:69004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12038730 SLC6A6 solute carrier family 6 member 6 gene DOID:4752 multiple system atrophy ISO RGD:62205 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex: PMID:24304186|REF_RGD_ID:11553929 12038730 SLC6A6 solute carrier family 6 member 6 gene DOID:4752 multiple system atrophy ISO RGD:69004 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex: PMID:24304186|REF_RGD_ID:11553929 12038730 SLC6A6 solute carrier family 6 member 6 gene DOID:630 genetic disease ISO RGD:69004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038730 SLC6A6 solute carrier family 6 member 6 gene DOID:8466 retinal degeneration ISO RGD:69004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:25741868|PMID:31345061|PMID:31903486 12038730 SLC6A6 solute carrier family 6 member 6 gene DOID:9004496 Hypertaurinuric Cardiomyopathy ISO RGD:69004 D RGD:7240710 20210707 OMIM 12038730 SLC6A6 solute carrier family 6 member 6 gene DOID:9004496 Hypertaurinuric Cardiomyopathy ISO RGD:69004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertaurinuric cardiomyopathy PMID:25741868|PMID:31345061|PMID:31903486 12038730 SLC6A6 solute carrier family 6 member 6 gene DOID:9007102 Myocardial Ischemia ISO RGD:69004 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12038749 EIF3B eukaryotic translation initiation factor 3 subunit B gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1319125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12038749 EIF3B eukaryotic translation initiation factor 3 subunit B gene DOID:630 genetic disease ISO RGD:1319125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038773 CKAP2L cytoskeleton associated protein 2 like gene DOID:0112194 Filippi syndrome ISO RGD:1602064 D RGD:7240710 20180130 OMIM 12038773 CKAP2L cytoskeleton associated protein 2 like gene DOID:0112194 Filippi syndrome ISO RGD:1602064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Filippi syndrome PMID:15365457|PMID:18553552|PMID:25439729|PMID:25741868|PMID:28492532|PMID:8867657 12038773 CKAP2L cytoskeleton associated protein 2 like gene DOID:1924 hypogonadism ISO RGD:1602064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadism 12038773 CKAP2L cytoskeleton associated protein 2 like gene DOID:630 genetic disease ISO RGD:1602064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12038773 CKAP2L cytoskeleton associated protein 2 like gene DOID:684 hepatocellular carcinoma ISO RGD:1602064 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12038786 TNFSF14 TNF superfamily member 14 gene DOID:0080490 mucolipidosis type IV ISO RGD:1352930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12038786 TNFSF14 TNF superfamily member 14 gene DOID:2377 multiple sclerosis ISO RGD:1352930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24076602 12038786 TNFSF14 TNF superfamily member 14 gene DOID:2986 IgA glomerulonephritis ISO RGD:1557415 D RGD:9068941 20220825 MouseDO OMIM:161950 | OMIM:616818 12038786 TNFSF14 TNF superfamily member 14 gene DOID:630 genetic disease ISO RGD:1352930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038786 TNFSF14 TNF superfamily member 14 gene DOID:7148 rheumatoid arthritis ISO RGD:1352930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 12038801 S100A3 S100 calcium binding protein A3 gene DOID:0111940 immunodeficiency 42 ISO RGD:732253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12038801 S100A3 S100 calcium binding protein A3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12038801 S100A3 S100 calcium binding protein A3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12038801 S100A3 S100 calcium binding protein A3 gene DOID:10283 prostate cancer ISO RGD:732253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12038801 S100A3 S100 calcium binding protein A3 gene DOID:1540 parathyroid carcinoma ISO RGD:732253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12038801 S100A3 S100 calcium binding protein A3 gene DOID:5812 MHC class II deficiency ISO RGD:732253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12038801 S100A3 S100 calcium binding protein A3 gene DOID:630 genetic disease ISO RGD:732253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038801 S100A3 S100 calcium binding protein A3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12038808 WFDC6 WAP four-disulfide core domain 6 gene DOID:2234 focal epilepsy ISO RGD:1352143 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12038808 WFDC6 WAP four-disulfide core domain 6 gene DOID:630 genetic disease ISO RGD:1352143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038808 WFDC6 WAP four-disulfide core domain 6 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1352143 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12038827 SBK2 SH3 domain binding kinase family member 2 gene DOID:630 genetic disease ISO RGD:2302831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038864 FIBCD1 fibrinogen C domain containing 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1319244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12038864 FIBCD1 fibrinogen C domain containing 1 gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1319244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 12038864 FIBCD1 fibrinogen C domain containing 1 gene DOID:630 genetic disease ISO RGD:1319244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038879 LOC100969317 olfactory receptor 8K1 gene DOID:1059 intellectual disability ISO RGD:1347124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12038879 LOC100969317 olfactory receptor 8K1 gene DOID:630 genetic disease ISO RGD:1347124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038880 ZMIZ1 zinc finger MIZ-type containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1323172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12038880 ZMIZ1 zinc finger MIZ-type containing 1 gene DOID:1059 intellectual disability ISO RGD:1323172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:28492532 12038880 ZMIZ1 zinc finger MIZ-type containing 1 gene DOID:10608 celiac disease ISO RGD:1323172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 12038880 ZMIZ1 zinc finger MIZ-type containing 1 gene DOID:3347 osteosarcoma ISO RGD:1323172 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34508303 12038880 ZMIZ1 zinc finger MIZ-type containing 1 gene DOID:630 genetic disease ISO RGD:1323172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26522984|PMID:28492532|PMID:30639322 12038880 ZMIZ1 zinc finger MIZ-type containing 1 gene DOID:9001002 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES ISO RGD:1323172 D RGD:7240710 20200115 OMIM 12038880 ZMIZ1 zinc finger MIZ-type containing 1 gene DOID:9001002 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES ISO RGD:1323172 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies PMID:25741868|PMID:28492532|PMID:30639322 12038880 ZMIZ1 zinc finger MIZ-type containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:28492532|PMID:30639322 12038880 ZMIZ1 zinc finger MIZ-type containing 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1323172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24836286 12038880 ZMIZ1 zinc finger MIZ-type containing 1 gene DOID:9008582 Developmental Disease ISO RGD:1323172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12038908 ELFN1 extracellular leucine rich repeat and fibronectin type III domain containing 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1642766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and Epileptic Encephalopathy with Joint Laxity PMID:24312227|PMID:34509675 12038908 ELFN1 extracellular leucine rich repeat and fibronectin type III domain containing 1 gene DOID:630 genetic disease ISO RGD:1642766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038915 FBXO9 F-box protein 9 gene DOID:630 genetic disease ISO RGD:1321245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038915 FBXO9 F-box protein 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1321245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12038937 DMAP1 DNA methyltransferase 1 associated protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1322676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12038937 DMAP1 DNA methyltransferase 1 associated protein 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1322676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12038937 DMAP1 DNA methyltransferase 1 associated protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1322676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12038937 DMAP1 DNA methyltransferase 1 associated protein 1 gene DOID:1826 epilepsy ISO RGD:1322676 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12038937 DMAP1 DNA methyltransferase 1 associated protein 1 gene DOID:630 genetic disease ISO RGD:1322676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038937 DMAP1 DNA methyltransferase 1 associated protein 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1322676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia 12038968 LOC100977291 interferon-induced protein with tetratricopeptide repeats 1B gene DOID:0080600 COVID-19 ISO RGD:1344579 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12038968 LOC100977291 interferon-induced protein with tetratricopeptide repeats 1B gene DOID:14497 Wolman disease ISO RGD:1344579 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wolman disease PMID:28492532 12038968 LOC100977291 interferon-induced protein with tetratricopeptide repeats 1B gene DOID:630 genetic disease ISO RGD:1344579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038968 LOC100977291 interferon-induced protein with tetratricopeptide repeats 1B gene DOID:9002189 High Myopia ISO RGD:1344579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12038972 UBTD2 ubiquitin domain containing 2 gene DOID:630 genetic disease ISO RGD:1601834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038979 FBXL2 F-box and leucine rich repeat protein 2 gene DOID:630 genetic disease ISO RGD:736852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12038998 SEC61A1 SEC61 translocon subunit alpha 1 gene DOID:0050770 polycystic liver disease ISO RGD:1351813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 12038998 SEC61A1 SEC61 translocon subunit alpha 1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1351813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:21670465|PMID:22147895|PMID:23223431|PMID:28492532 12038998 SEC61A1 SEC61 translocon subunit alpha 1 gene DOID:630 genetic disease ISO RGD:1351813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12038998 SEC61A1 SEC61 translocon subunit alpha 1 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1351813 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 12038998 SEC61A1 SEC61 translocon subunit alpha 1 gene DOID:9004877 Autosomal Dominant Tubulointerstitial Kidney Disease 5 ISO RGD:1351813 D RGD:7240710 20190315 OMIM 12038998 SEC61A1 SEC61 translocon subunit alpha 1 gene DOID:9004877 Autosomal Dominant Tubulointerstitial Kidney Disease 5 ISO RGD:1351813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 PMID:25741868|PMID:27392076|PMID:28492532|PMID:28782633 12038998 SEC61A1 SEC61 translocon subunit alpha 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1351813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 12038998 SEC61A1 SEC61 translocon subunit alpha 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1351813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:21670465|PMID:22147895|PMID:23223431|PMID:25741868|PMID:26710799|PMID:28492532 12038998 SEC61A1 SEC61 translocon subunit alpha 1 gene DOID:9270 alkaptonuria ISO RGD:1351813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12039014 TRAPPC10 trafficking protein particle complex subunit 10 gene DOID:0060341 agnathia-otocephaly complex ISO RGD:1621362 D RGD:9068941 20220825 MouseDO OMIM:202650 12039014 TRAPPC10 trafficking protein particle complex subunit 10 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1322626 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 12039014 TRAPPC10 trafficking protein particle complex subunit 10 gene DOID:0110266 cataract 9 multiple types ISO RGD:1322626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12039014 TRAPPC10 trafficking protein particle complex subunit 10 gene DOID:1059 intellectual disability ISO RGD:1322626 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:30167849|PMID:35298461 12039014 TRAPPC10 trafficking protein particle complex subunit 10 gene DOID:12583 velocardiofacial syndrome ISO RGD:1621362 D RGD:9068941 20220825 MouseDO OMIM:192430 12039014 TRAPPC10 trafficking protein particle complex subunit 10 gene DOID:12849 autistic disorder ISO RGD:1322626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12039014 TRAPPC10 trafficking protein particle complex subunit 10 gene DOID:37 skin disease ISO RGD:1322626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12039014 TRAPPC10 trafficking protein particle complex subunit 10 gene DOID:630 genetic disease ISO RGD:1322626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039014 TRAPPC10 trafficking protein particle complex subunit 10 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1322626 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12039014 TRAPPC10 trafficking protein particle complex subunit 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12039014 TRAPPC10 trafficking protein particle complex subunit 10 gene DOID:9007964 Arsenic Poisoning ISO RGD:1322626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12039014 TRAPPC10 trafficking protein particle complex subunit 10 gene DOID:9263 homocystinuria ISO RGD:1322626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12039014 TRAPPC10 trafficking protein particle complex subunit 10 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1322626 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12039046 SERTAD2 SERTA domain containing 2 gene DOID:630 genetic disease ISO RGD:1350169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039059 SIGLEC10 sialic acid binding Ig like lectin 10 gene DOID:630 genetic disease ISO RGD:1316634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039087 SUGT1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1316810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12039087 SUGT1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone gene DOID:1059 intellectual disability ISO RGD:1316810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12039087 SUGT1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone gene DOID:630 genetic disease ISO RGD:1316810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039110 MAP3K11 mitogen-activated protein kinase kinase kinase 11 gene DOID:1059 intellectual disability ISO RGD:1347603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12039110 MAP3K11 mitogen-activated protein kinase kinase kinase 11 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1347603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12039110 MAP3K11 mitogen-activated protein kinase kinase kinase 11 gene DOID:2746 glycogen storage disease V ISO RGD:1347603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12039110 MAP3K11 mitogen-activated protein kinase kinase kinase 11 gene DOID:3070 high grade glioma ISO RGD:1347603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12039110 MAP3K11 mitogen-activated protein kinase kinase kinase 11 gene DOID:630 genetic disease ISO RGD:1347603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039110 MAP3K11 mitogen-activated protein kinase kinase kinase 11 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1347603 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12039110 MAP3K11 mitogen-activated protein kinase kinase kinase 11 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1347603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 12039128 QRFPR pyroglutamylated RFamide peptide receptor gene DOID:0080010 bone structure disease ISO RGD:1332510 D RGD:9068941 20220825 MouseDO 12039128 QRFPR pyroglutamylated RFamide peptide receptor gene DOID:630 genetic disease ISO RGD:1351393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039128 QRFPR pyroglutamylated RFamide peptide receptor gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1351393 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 12039128 QRFPR pyroglutamylated RFamide peptide receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12039142 TBCB tubulin folding cofactor B gene DOID:0110222 Brugada syndrome 5 ISO RGD:1320593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12039142 TBCB tubulin folding cofactor B gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1320593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12039142 TBCB tubulin folding cofactor B gene DOID:630 genetic disease ISO RGD:1320593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039142 TBCB tubulin folding cofactor B gene DOID:9000965 Neoplasm Metastasis ISO RGD:1320593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 12039152 REC114 REC114 meiotic recombination protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:2307386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12039152 REC114 REC114 meiotic recombination protein gene DOID:2717 Bloom syndrome ISO RGD:2307386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12039152 REC114 REC114 meiotic recombination protein gene DOID:3320 Tay-Sachs disease ISO RGD:2307386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 12039152 REC114 REC114 meiotic recombination protein gene DOID:5419 schizophrenia ISO RGD:2307386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12039152 REC114 REC114 meiotic recombination protein gene DOID:630 genetic disease ISO RGD:2307386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039152 REC114 REC114 meiotic recombination protein gene DOID:9002039 Oocyte/Zygote/Embryo Maturation Arrest 10 ISO RGD:2307386 D RGD:7240710 20210303 OMIM 12039152 REC114 REC114 meiotic recombination protein gene DOID:9002039 Oocyte/Zygote/Embryo Maturation Arrest 10 ISO RGD:2307386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 10 PMID:31704776 12039152 REC114 REC114 meiotic recombination protein gene DOID:9256 colorectal cancer ISO RGD:2307386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12039165 CYP2W1 cytochrome P450 family 2 subfamily W member 1 gene DOID:630 genetic disease ISO RGD:1313076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039175 MMS22L MMS22 like, DNA repair protein gene DOID:630 genetic disease ISO RGD:1312286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039212 MS4A12 membrane spanning 4-domains A12 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1316189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12039212 MS4A12 membrane spanning 4-domains A12 gene DOID:1059 intellectual disability ISO RGD:1316189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12039212 MS4A12 membrane spanning 4-domains A12 gene DOID:630 genetic disease ISO RGD:1316189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039224 SLC30A5 solute carrier family 30 member 5 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1315825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:33547425 12039224 SLC30A5 solute carrier family 30 member 5 gene DOID:630 genetic disease ISO RGD:1315825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039224 SLC30A5 solute carrier family 30 member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12039224 SLC30A5 solute carrier family 30 member 5 gene DOID:9007001 Bradycardia ISO RGD:1315826 D RGD:9068941 20200609 RGD PMID:12095919|REF_RGD_ID:1580628 12039292 STARD4 StAR related lipid transfer domain containing 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1319833 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12039292 STARD4 StAR related lipid transfer domain containing 4 gene DOID:630 genetic disease ISO RGD:1319833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039292 STARD4 StAR related lipid transfer domain containing 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12039292 STARD4 StAR related lipid transfer domain containing 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12039292 STARD4 StAR related lipid transfer domain containing 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319833 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12039317 ANXA11 annexin A11 gene DOID:0080225 amyotrophic lateral sclerosis type 23 ISO RGD:1320510 D RGD:7240710 20190315 OMIM 12039317 ANXA11 annexin A11 gene DOID:0080225 amyotrophic lateral sclerosis type 23 ISO RGD:1320510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 23 PMID:25741868|PMID:28469040|PMID:28492532|PMID:29650794|PMID:29845112|PMID:30109997|PMID:33087501|PMID:33218681|PMID:34048612|PMID:35047667 12039317 ANXA11 annexin A11 gene DOID:0081121 inclusion body myopathy and brain white matter abnormalities ISO RGD:1320510 D RGD:7240710 20220323 OMIM 12039317 ANXA11 annexin A11 gene DOID:0081121 inclusion body myopathy and brain white matter abnormalities ISO RGD:1320510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy and brain white matter abnormalities PMID:25741868|PMID:28469040|PMID:28492532|PMID:29845112|PMID:33087501|PMID:34048612 12039317 ANXA11 annexin A11 gene DOID:11335 sarcoidosis ISO RGD:1320510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19165924 12039317 ANXA11 annexin A11 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1320510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:17576681|PMID:25741868|PMID:28469040|PMID:28492532|PMID:29650794|PMID:30109997|PMID:33087501|PMID:33218681|PMID:35047667|PMID:9536098 12039317 ANXA11 annexin A11 gene DOID:630 genetic disease ISO RGD:1320510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28469040|PMID:28492532|PMID:29650794|PMID:33087501 12039317 ANXA11 annexin A11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12039353 PDZD7 PDZ domain containing 7 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1320465 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB PMID:25741868|PMID:28492532|PMID:31253780 12039353 PDZD7 PDZ domain containing 7 gene DOID:0110838 Usher syndrome type 2A ISO RGD:1320465 D RGD:7240710 20180130 OMIM 12039353 PDZD7 PDZ domain containing 7 gene DOID:0110838 Usher syndrome type 2A ISO RGD:1320465 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A PMID:20440071|PMID:24033266|PMID:25741868|PMID:26849169|PMID:28492532|PMID:29048736 12039353 PDZD7 PDZ domain containing 7 gene DOID:0110839 Usher syndrome type 2C ISO RGD:1320465 D RGD:7240710 20180130 OMIM 12039353 PDZD7 PDZ domain containing 7 gene DOID:0110839 Usher syndrome type 2C ISO RGD:1320465 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic PMID:20440071|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26849169|PMID:28492532|PMID:32050993 12039353 PDZD7 PDZ domain containing 7 gene DOID:0111635 autosomal recessive nonsyndromic deafness 57 ISO RGD:1320465 D RGD:7240710 20190315 OMIM 12039353 PDZD7 PDZ domain containing 7 gene DOID:0111635 autosomal recessive nonsyndromic deafness 57 ISO RGD:1320465 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 57 PMID:16199547|PMID:20440071|PMID:24033266|PMID:25741868|PMID:26416264|PMID:26849169|PMID:28492532|PMID:28802369|PMID:29048736|PMID:30622556|PMID:31454969|PMID:31827275|PMID:32048449|PMID:33724713|PMID:35802133|PMID:36633841 12039353 PDZD7 PDZ domain containing 7 gene DOID:630 genetic disease ISO RGD:1320465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20440071|PMID:24033266|PMID:25741868|PMID:28492532 12039353 PDZD7 PDZ domain containing 7 gene DOID:9001128 Usher Syndrome, Type 2B ISO RGD:1320465 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 2B PMID:20440071|PMID:24033266|PMID:25741868|PMID:26849169|PMID:28492532 12039353 PDZD7 PDZ domain containing 7 gene DOID:9004538 Hearing Loss ISO RGD:1320465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:17576681|PMID:28492532|PMID:30311386|PMID:9536098 12039373 RNASET2 ribonuclease T2 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:1320518 D RGD:9068941 20220721 RGD human cells in mouse model PMID:27014725|REF_RGD_ID:153002831 12039373 RNASET2 ribonuclease T2 gene DOID:0081007 RNASET2-deficient cystic leukoencephalopathy ISO RGD:1320518 D RGD:7240710 20180130 OMIM 12039373 RNASET2 ribonuclease T2 gene DOID:0081007 RNASET2-deficient cystic leukoencephalopathy ISO RGD:1320518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystic leukoencephalopathy without megalencephaly PMID:19525954|PMID:25741868|PMID:28492532 12039373 RNASET2 ribonuclease T2 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1320518 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 12039373 RNASET2 ribonuclease T2 gene DOID:12361 Graves' disease ISO RGD:1320518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21841780 12039373 RNASET2 ribonuclease T2 gene DOID:1324 lung cancer ISO RGD:1320518 D RGD:9068941 20220721 RGD DNA:SNP:intergenic:rs444210 (human) PMID:29193083|REF_RGD_ID:153297750 12039373 RNASET2 ribonuclease T2 gene DOID:1909 melanoma ISO RGD:1320518 D RGD:9068941 20220721 RGD human cells in mouse model PMID:27014725|REF_RGD_ID:153002831 12039373 RNASET2 ribonuclease T2 gene DOID:219 colon cancer ISO RGD:1320519 D RGD:9068941 20220721 RGD PMID:32197460|REF_RGD_ID:153002804 12039373 RNASET2 ribonuclease T2 gene DOID:234 colon adenocarcinoma ISO RGD:1320518 D RGD:9068941 20220721 RGD human cells in mouse model PMID:30842415|REF_RGD_ID:153002829 12039373 RNASET2 ribonuclease T2 gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:1320518 D RGD:9068941 20220721 RGD mRNA, protein:decreased expression:stomach (human) PMID:32528897|REF_RGD_ID:153002801 12039373 RNASET2 ribonuclease T2 gene DOID:3883 Lynch syndrome ISO RGD:1320518 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 12039373 RNASET2 ribonuclease T2 gene DOID:5410 pulmonary neuroendocrine tumor ISO RGD:1320518 D RGD:9068941 20220721 RGD mRNA:increased expression:lung (human) PMID:29763721|REF_RGD_ID:153002569 12039373 RNASET2 ribonuclease T2 gene DOID:630 genetic disease ISO RGD:1320518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12039373 RNASET2 ribonuclease T2 gene DOID:9005172 Lung Neoplasms ISO RGD:1320518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28604730 12039373 RNASET2 ribonuclease T2 gene DOID:936 brain disease ISO RGD:1320518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19525954 12039387 PON2 paraoxonase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1320575 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12039387 PON2 paraoxonase 2 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:1309954 D RGD:9068941 20200609 RGD PMID:22536512|REF_RGD_ID:8661257 12039387 PON2 paraoxonase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1320575 D RGD:9068941 20200609 RGD DNA:SNPs:multiple PMID:16319130|REF_RGD_ID:5509926 12039387 PON2 paraoxonase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1320575 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C311S (human) PMID:11803456|REF_RGD_ID:1580219 12039387 PON2 paraoxonase 2 gene DOID:1287 cardiovascular system disease ISO RGD:1320575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19152805 12039387 PON2 paraoxonase 2 gene DOID:13810 familial hypercholesterolemia ISO RGD:1320575 D RGD:9068941 20200806 RGD DNA:missense mutation:cds:p.S311C (human) PMID:16776623|REF_RGD_ID:1642625 12039387 PON2 paraoxonase 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1320575 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs11981433, association with LD block containing both PON3 and PON2 PMID:16822964|REF_RGD_ID:5509925 12039387 PON2 paraoxonase 2 gene DOID:3393 coronary artery disease severity ISO RGD:1320575 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C311S (human) PMID:12454802|REF_RGD_ID:1580217 12039387 PON2 paraoxonase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12039387 PON2 paraoxonase 2 gene DOID:630 genetic disease ISO RGD:1320575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039387 PON2 paraoxonase 2 gene DOID:8725 vascular dementia ISO RGD:1320575 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C311S (human) PMID:11803456|REF_RGD_ID:1580219 12039387 PON2 paraoxonase 2 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1320575 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C311S (human) PMID:9443862|REF_RGD_ID:1580216 12039387 PON2 paraoxonase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1320575 D RGD:9068941 20200609 RGD associated with type 1 diabetes mellitus;DNA:missense mutation:cds:p.C311S (human) PMID:11918623|REF_RGD_ID:1580218 12039387 PON2 paraoxonase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1320575 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus;DNA:polymorphisms:multiple PMID:11206400|REF_RGD_ID:2313492 12039387 PON2 paraoxonase 2 gene DOID:9002910 Hearing Loss, Noise-Induced susceptibility ISO RGD:1320575 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:23327886|REF_RGD_ID:8661240 12039387 PON2 paraoxonase 2 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:1320575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16030523 12039387 PON2 paraoxonase 2 gene DOID:9007096 Stroke ISO RGD:1320575 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus;DNA:missense mutation:cds:p.S311C (human) PMID:12778447|REF_RGD_ID:2313491 12039387 PON2 paraoxonase 2 gene DOID:9007096 Stroke ISO RGD:1320575 D RGD:9068941 20200609 RGD large vessel disease (LVD) stroke;DNA:missense mutation:cds:p.C311S (human) PMID:17406108|REF_RGD_ID:1642614 12039387 PON2 paraoxonase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1320575 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.S311C (human) PMID:18776646|REF_RGD_ID:2313490 12039387 PON2 paraoxonase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1320575 D RGD:9068941 20200609 RGD associated with Diabetic Retinopathy;DNA:missense mutation:cds:p.C310S (human) PMID:10677395|REF_RGD_ID:8547560 12039387 PON2 paraoxonase 2 gene DOID:9970 obesity ISO RGD:1309954 D RGD:9068941 20200609 RGD protein:increased expression:white adipose tissue PMID:21365757|REF_RGD_ID:8661255 12039402 CCT2 chaperonin containing TCP1 subunit 2 gene DOID:11476 osteoporosis ISO RGD:1352326 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12039402 CCT2 chaperonin containing TCP1 subunit 2 gene DOID:630 genetic disease ISO RGD:1352326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12039424 NLRC3 NLR family CARD domain containing 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604212 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12039424 NLRC3 NLR family CARD domain containing 3 gene DOID:1826 epilepsy ISO RGD:1604212 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12039424 NLRC3 NLR family CARD domain containing 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604212 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12039424 NLRC3 NLR family CARD domain containing 3 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1604212 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12039424 NLRC3 NLR family CARD domain containing 3 gene DOID:630 genetic disease ISO RGD:1604212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039424 NLRC3 NLR family CARD domain containing 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1604212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30081150 12039452 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1352747 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12039452 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:0050476 Barth syndrome ISO RGD:1352747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12039452 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:1352747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 12039452 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12039452 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:0080600 COVID-19 ISO RGD:1352747 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12039452 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1352747 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:25741868 12039452 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1352747 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 12039452 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1352747 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12039452 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:0112150 X-linked spondyloepimetaphyseal dysplasia ISO RGD:1352747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: X-linked spondyloepimetaphyseal dysplasia PMID:10190819|PMID:12175782|PMID:14767898|PMID:15192815|PMID:15800013|PMID:15811009|PMID:16087056|PMID:17285533|PMID:20195870|PMID:20661612|PMID:21068741|PMID:21700483|PMID:21966424|PMID:23419472|PMID:23566833|PMID:25741868|PMID:26260157|PMID:26454440|PMID:27928321|PMID:28492532|PMID:7825602|PMID:7849723|PMID:8040304|PMID:8651290|PMID:9088111|PMID:9195223|PMID:9553942 12039452 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1352747 D RGD:7240710 20180130 OMIM 12039452 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1352747 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE | ClinVar Annotator: match by term: X-linked cerebral adrenoleukodystrophy PMID:10190819|PMID:10227685|PMID:10480364|PMID:10551832|PMID:10737980|PMID:10815658|PMID:10980539|PMID:11102997|PMID:11220738|PMID:11248239|PMID:11310629|PMID:11330045|PMID:11336405|PMID:11438993|PMID:11739809|PMID:11748843|PMID:11798073|PMID:11810273|PMID:12175782|PMID:12530690|PMID:12624723|PMID:12913200|PMID:14586615|PMID:14713218|PMID:14767898|PMID:1481812|PMID:15032602|PMID:15284851|PMID:15388659|PMID:15564782|PMID:15643618|PMID:15800013|PMID:15811009|PMID:15812458|PMID:15878823|PMID:16018167|PMID:16023551|PMID:16087056|PMID:16199547|PMID:16401743|PMID:16415970|PMID:16672758|PMID:16949688|PMID:16996397|PMID:17029209|PMID:17202797|PMID:17285533|PMID:17504626|PMID:17542813|PMID:17576681|PMID:17990484|PMID:18306728|PMID:18973459|PMID:19129531|PMID:19892975|PMID:20008255|PMID:20195870|PMID:20301491|PMID:20455653|PMID:20626745|PMID:20661612|PMID:20800589|PMID:20849526|PMID:20859061|PMID:21068741|PMID:21300044|PMID:21476988|PMID:21478203|PMID:21488864|PMID:21586746|PMID:21700483|PMID:21889498|PMID:21907609|PMID:21966424|PMID:22198747|PMID:22280810|PMID:22366764|PMID:22479560|PMID:22483867|PMID:22914231|PMID:23154058|PMID:23300730|PMID:23419472|PMID:23430809|PMID:23566833|PMID:23566848|PMID:23664929|PMID:23671276|PMID:23712774|PMID:23768953|PMID:23835273|PMID:24154795|PMID:24480483|PMID:24685009|PMID:24719134|PMID:24722136|PMID:24788897|PMID:25118695|PMID:25275259|PMID:25741868|PMID:26227820|PMID:26260157|PMID:26388597|PMID:26454440|PMID:26467025|PMID:26523528|PMID:26607867|PMID:26609365|PMID:27067449|PMID:27489563|PMID:27766264|PMID:27934597|PMID:28089346|PMID:28456143|PMID:28492532|PMID:28503596|PMID:28708278|PMID:28953922|PMID:28991658|PMID:29284317|PMID:29443243|PMID:29557549|PMID:30069915|PMID:31074578|PMID:31104286|PMID:31227335|PMID:31316545|PMID:31777199|PMID:32003821|PMID:32207279|PMID:32954314|PMID:33920672|PMID:34008892|PMID:34946879|PMID:35196747|PMID:6728562|PMID:6795626|PMID:7202134|PMID:7561948|PMID:7581394|PMID:7668254|PMID:7677014|PMID:7717396|PMID:7811247|PMID:7825602|PMID:7849718|PMID:7849723|PMID:7860075|PMID:7894167|PMID:7904210|PMID:7998779|PMID:8040304|PMID:8048932|PMID:8353949|PMID:8441467|PMID:8535452|PMID:8566952|PMID:8621506|PMID:8651290|PMID:8773611|PMID:8888042|PMID:8892025|PMID:9051655|PMID:9088111|PMID:9195223|PMID:9212180|PMID:9242200|PMID:9425230|PMID:9452087|PMID:9536098|PMID:9553942|PMID:9556301|PMID:9894883 12039452 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1352747 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE | ClinVar Annotator: match by term: X-linked cerebral adrenoleukodystrophy PMID:10190819|PMID:10227685|PMID:10369742|PMID:10480214|PMID:10480364|PMID:10551832|PMID:10737980|PMID:10815658|PMID:10980309|PMID:10980539|PMID:11063720|PMID:11102997|PMID:11220738|PMID:11248239|PMID:11310629|PMID:11330045|PMID:11336405|PMID:11438993|PMID:11739809|PMID:11748843|PMID:11798073|PMID:11810273|PMID:11968085|PMID:12175782|PMID:12402273|PMID:12530690|PMID:12624723|PMID:12913200|PMID:14586615|PMID:14713218|PMID:14767898|PMID:1481812|PMID:15032602|PMID:15192815|PMID:15284851|PMID:15333254|PMID:15388659|PMID:15564782|PMID:15643618|PMID:15800013|PMID:15811009|PMID:15812458|PMID:15878823|PMID:16018167|PMID:16023551|PMID:16087056|PMID:16199547|PMID:16401743|PMID:16415970|PMID:16427346|PMID:16601897|PMID:16672758|PMID:16684786|PMID:16949688|PMID:16996397|PMID:17029209|PMID:17202797|PMID:17285533|PMID:17372139|PMID:17498713|PMID:17504626|PMID:17542813|PMID:17576681|PMID:17990484|PMID:18206987|PMID:18306728|PMID:18973459|PMID:19129531|PMID:19234479|PMID:19325113|PMID:19396829|PMID:19496984|PMID:19592040|PMID:19660195|PMID:19846429|PMID:19892975|PMID:19963315|PMID:20008255|PMID:20195870|PMID:20228476|PMID:20301491|PMID:20376793|PMID:20455653|PMID:20626745|PMID:20661612|PMID:20730588|PMID:20800589|PMID:20849526|PMID:20859061|PMID:21068741|PMID:21264817|PMID:21300044|PMID:21476988|PMID:21478203|PMID:21488864|PMID:21586746|PMID:21700483|PMID:21889498|PMID:21907609|PMID:21966424|PMID:22045812|PMID:22176151|PMID:22189598|PMID:22198747|PMID:22280810|PMID:22281021|PMID:22366764|PMID:22382802|PMID:22479560|PMID:22483867|PMID:22687851|PMID:22914231|PMID:23009600|PMID:23154058|PMID:23300730|PMID:23409742|PMID:23419472|PMID:23430809|PMID:23469258|PMID:23566833|PMID:23566848|PMID:23651979|PMID:23660394|PMID:23664929|PMID:23671276|PMID:23712774|PMID:23768953|PMID:23835273|PMID:23864971|PMID:23926373|PMID:24154795|PMID:24365856|PMID:24480483|PMID:24685009|PMID:24719134|PMID:24722136|PMID:24788897|PMID:24962355|PMID:25118695|PMID:25275259|PMID:25324868|PMID:25741868|PMID:25835273|PMID:25835712|PMID:25999754|PMID:26227820|PMID:26260157|PMID:26266984|PMID:26388597|PMID:26454440|PMID:26467025|PMID:26471271|PMID:26523528|PMID:26607867|PMID:26609365|PMID:27067449|PMID:27489563|PMID:27766264|PMID:27779215|PMID:27928321|PMID:27934597|PMID:28086082|PMID:28089346|PMID:28216041|PMID:28456143|PMID:28481932|PMID:28492532|PMID:28503596|PMID:28601575|PMID:28708278|PMID:28953922|PMID:28991658|PMID:29056270|PMID:29284317|PMID:29334594|PMID:29443243|PMID:29557549|PMID:29950168|PMID:30069915|PMID:30544401|PMID:30564185|PMID:30658899|PMID:30902905|PMID:31074578|PMID:31104286|PMID:31227335|PMID:31316545|PMID:31452695|PMID:31526374|PMID:31777199|PMID:32003821|PMID:32047678|PMID:32101828|PMID:32207279|PMID:32307584|PMID:32954314|PMID:33151932|PMID:33247909|PMID:33359056|PMID:33547378|PMID:33920672|PMID:34008892|PMID:34012265|PMID:34302356|PMID:34946879|PMID:35053399|PMID:35076462|PMID:35196747|PMID:35466195|PMID:35535697|PMID:6728562|PMID:6795626|PMID:7202134|PMID:7561948|PMID:7581394|PMID:7668254|PMID:7677014|PMID:7717396|PMID:7811247|PMID:7825602|PMID:7849718|PMID:7849723|PMID:7860075|PMID:7894167|PMID:7904210|PMID:7998779|PMID:8040304|PMID:8048932|PMID:8353949|PMID:8441467|PMID:8535452|PMID:8566952|PMID:8621506|PMID:8651290|PMID:8773611|PMID:8888042|PMID:8889593|PMID:8892025|PMID:9051655|PMID:9088111|PMID:9195223|PMID:9212180|PMID:9242200|PMID:9384614|PMID:9425230|PMID:9452087|PMID:9536098|PMID:9551465|PMID:9553942|PMID:9556301|PMID:9584268|PMID:9846054|PMID:9894883 12039452 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:10588 adrenoleukodystrophy susceptibility ISO RGD:1352747 D RGD:9068941 20200609 RGD PMID:8048932|REF_RGD_ID:1598655 12039452 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:1059 intellectual disability ISO RGD:1352747 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:31316545|PMID:35535697 12039452 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1352747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12039452 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:12849 autistic disorder ISO RGD:1352747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12039452 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:13628 favism ISO RGD:1352747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12039452 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:13774 Addison's disease ISO RGD:1352747 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Primary adrenocortical insufficiency PMID:10190819|PMID:11248239|PMID:11748843|PMID:12530690|PMID:12624723|PMID:14767898|PMID:15032602|PMID:15811009|PMID:16087056|PMID:17542813|PMID:17990484|PMID:21476988|PMID:21700483|PMID:21966424|PMID:22479560|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7581394|PMID:7668254|PMID:8040304|PMID:8651290|PMID:8773611 12039452 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1352747 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12039452 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:607 paraplegia ISO RGD:1352747 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12039452 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:630 genetic disease ISO RGD:1352747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10190819|PMID:10227685|PMID:10480364|PMID:10737980|PMID:10980309|PMID:11438993|PMID:11748843|PMID:12175782|PMID:12402273|PMID:14767898|PMID:15192815|PMID:15800013|PMID:15811009|PMID:16087056|PMID:16199547|PMID:16415970|PMID:16949688|PMID:17285533|PMID:17372139|PMID:17542813|PMID:19129531|PMID:19325113|PMID:20661612|PMID:20800589|PMID:20859061|PMID:21068741|PMID:21300044|PMID:21700483|PMID:21889498|PMID:21966424|PMID:22045812|PMID:22189598|PMID:22280810|PMID:22479560|PMID:22483867|PMID:23419472|PMID:23430809|PMID:23566833|PMID:23864971|PMID:24154795|PMID:24719134|PMID:24920594|PMID:25275259|PMID:25324868|PMID:25741868|PMID:26227820|PMID:26266984|PMID:26454440|PMID:26467025|PMID:27928321|PMID:28086082|PMID:28216041|PMID:28481932|PMID:28492532|PMID:28708278|PMID:28991658|PMID:29056270|PMID:30069915|PMID:30902905|PMID:31074578|PMID:31104286|PMID:31526374|PMID:32003821|PMID:32047678|PMID:32101828|PMID:33247909|PMID:33920672|PMID:34946879|PMID:35053399|PMID:7581394|PMID:7668254|PMID:7717396|PMID:7825602|PMID:7849723|PMID:8535452|PMID:8566952|PMID:8651290|PMID:9088111|PMID:9195223|PMID:9242200|PMID:9425230|PMID:9553942|PMID:9712540|PMID:9846054 12039452 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:9002720 Splenomegaly ISO RGD:1352747 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12039452 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:9006230 Neurologic Gait Disorders ISO RGD:1352747 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Spastic gait PMID:21966424|PMID:22479560|PMID:25741868|PMID:26454440|PMID:28481932|PMID:28492532|PMID:31104286|PMID:8535452|PMID:9242200|PMID:9846054 12039452 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1352747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12039452 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:9588 encephalitis ISO RGD:1352747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalitis PMID:11748843|PMID:16199547|PMID:25741868|PMID:28492532 12039492 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:1314438 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:25741868 12039492 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0070331 mitochondrial DNA depletion syndrome 8b ISO RGD:1314438 D RGD:7240710 20190515 OMIM 12039492 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0070331 mitochondrial DNA depletion syndrome 8b ISO RGD:1314438 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8B (MNGIE type) PMID:19125351|PMID:19667227|PMID:24741716|PMID:25741868|PMID:28492532|PMID:32161153 12039492 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:1314438 D RGD:7240710 20180130 OMIM 12039492 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:1314438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease PMID:17486094|PMID:17576681|PMID:19125351|PMID:19138848|PMID:19664747|PMID:19667227|PMID:21378381|PMID:21646632|PMID:21951382|PMID:23107649|PMID:24741716|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26467025|PMID:27290639|PMID:28492532|PMID:28639102|PMID:28812649|PMID:30439532|PMID:31462754|PMID:32313153|PMID:33300680|PMID:9536098 12039492 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:1314438 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency PMID:12859174|PMID:16199547|PMID:17486094|PMID:17576681|PMID:19125351|PMID:19138848|PMID:19664747|PMID:19667227|PMID:21378381|PMID:21646632|PMID:21951382|PMID:23107649|PMID:24741716|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26467025|PMID:27290639|PMID:28492532|PMID:28639102|PMID:28812649|PMID:30439532|PMID:31462754|PMID:32313153|PMID:33300680|PMID:8130196|PMID:9536098 12039492 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:1314438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease PMID:12859174|PMID:16199547|PMID:17486094|PMID:17576681|PMID:18504129|PMID:19125351|PMID:19138848|PMID:19664747|PMID:19667227|PMID:21378381|PMID:21646632|PMID:21951382|PMID:23107649|PMID:24741716|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26467025|PMID:27290639|PMID:28492532|PMID:28639102|PMID:28812649|PMID:30439532|PMID:31462754|PMID:32161153|PMID:32313153|PMID:33300680|PMID:8130196|PMID:9536098 12039492 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0110668 congenital myasthenic syndrome 10 ISO RGD:1314438 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 10 PMID:25326635|PMID:25326637|PMID:25741868|PMID:30439532 12039492 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0111518 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 ISO RGD:1314438 D RGD:7240710 20180130 OMIM 12039492 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0111518 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 ISO RGD:1314438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 PMID:17486094|PMID:19664747|PMID:21378381|PMID:21646632|PMID:23107649|PMID:24741716|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28812649 12039492 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0111590 Cohen syndrome ISO RGD:1314438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12039492 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:10003 sensorineural hearing loss ISO RGD:1314438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868|PMID:28492532|PMID:32827185|PMID:8279480 12039492 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:1314438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions PMID:21646632|PMID:21951382|PMID:23107649|PMID:24741716|PMID:25741868|PMID:28492532|PMID:32161153 12039492 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:3635 congenital myasthenic syndrome ISO RGD:1314438 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myasthenia, limb-girdle, familial PMID:25326635|PMID:25326637|PMID:25741868|PMID:30439532 12039492 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:3650 lactic acidosis ISO RGD:1314438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19138848 12039492 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:557 kidney disease ISO RGD:1314438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19138848 12039492 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:630 genetic disease ISO RGD:1314438 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12039492 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:699 mitochondrial myopathy ISO RGD:1314438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17486094|PMID:19138848 12039492 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:700 mitochondrial metabolism disease ISO RGD:1314438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:17576681|PMID:21646632|PMID:23107649|PMID:24741716|PMID:25741868|PMID:28492532|PMID:28812649|PMID:32313153|PMID:9536098 12039492 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:9004493 Camptocormia ISO RGD:1314438 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bent Spine Syndrome PMID:17486094|PMID:21378381|PMID:24741716|PMID:25741868 12039492 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:9004658 Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction ISO RGD:1314438 D RGD:7240710 20220316 OMIM 12039492 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:9004658 Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction ISO RGD:1314438 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction PMID:17486094|PMID:21378381|PMID:24741716|PMID:25741868|PMID:28492532|PMID:32827185|PMID:8279480 12039492 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:9005603 Muscle Hypotonia ISO RGD:1314438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19138848 12039506 NDUFAF7 NADH:ubiquinone oxidoreductase complex assembly factor 7 gene DOID:0080690 RASopathy ISO RGD:1602217 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12039506 NDUFAF7 NADH:ubiquinone oxidoreductase complex assembly factor 7 gene DOID:630 genetic disease ISO RGD:1602217 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12039528 NEXMIF neurite extension and migration factor gene DOID:0060041 autism spectrum disorder ISO RGD:1614872 D RGD:9068941 20220825 MouseDO 12039528 NEXMIF neurite extension and migration factor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12039528 NEXMIF neurite extension and migration factor gene DOID:0080462 developmental and epileptic encephalopathy 7 ISO RGD:1603497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Continuous spike and waves during slow-wave sleep syndrome PMID:23615299|PMID:25741868|PMID:27358180|PMID:28492532|PMID:29693785 12039528 NEXMIF neurite extension and migration factor gene DOID:0112044 non-syndromic X-linked intellectual disability 98 ISO RGD:1603497 D RGD:7240710 20180130 OMIM 12039528 NEXMIF neurite extension and migration factor gene DOID:0112044 non-syndromic X-linked intellectual disability 98 ISO RGD:1603497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98 PMID:15466006|PMID:23615299|PMID:24307393|PMID:25590979|PMID:25741868|PMID:25900396|PMID:26467025|PMID:26576034|PMID:27358180|PMID:27568816|PMID:28492532|PMID:29693785|PMID:32860008|PMID:33144681|PMID:34008892 12039528 NEXMIF neurite extension and migration factor gene DOID:1059 intellectual disability ISO RGD:1603497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12039528 NEXMIF neurite extension and migration factor gene DOID:12849 autistic disorder ISO RGD:1603497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12039528 NEXMIF neurite extension and migration factor gene DOID:1826 epilepsy ISO RGD:1603497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 12039528 NEXMIF neurite extension and migration factor gene DOID:630 genetic disease ISO RGD:1603497 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15466006|PMID:23615299|PMID:24307393|PMID:25741868|PMID:26467025|PMID:27358180|PMID:27568816|PMID:28492532|PMID:32860008 12039528 NEXMIF neurite extension and migration factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 12039541 NANS N-acetylneuraminate synthase gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1323660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 12039541 NANS N-acetylneuraminate synthase gene DOID:0080006 bone development disease ISO RGD:1323660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27213289 12039541 NANS N-acetylneuraminate synthase gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1323660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 12039541 NANS N-acetylneuraminate synthase gene DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type ISO RGD:1323660 D RGD:7240710 20190315 OMIM 12039541 NANS N-acetylneuraminate synthase gene DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type ISO RGD:1323660 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type PMID:15726110|PMID:25741868|PMID:27213289|PMID:28492532|PMID:34163424 12039541 NANS N-acetylneuraminate synthase gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1323660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 12039541 NANS N-acetylneuraminate synthase gene DOID:1059 intellectual disability ISO RGD:1323660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12039541 NANS N-acetylneuraminate synthase gene DOID:12712 nephronophthisis ISO RGD:1323660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 12039541 NANS N-acetylneuraminate synthase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1323660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 12039541 NANS N-acetylneuraminate synthase gene DOID:630 genetic disease ISO RGD:1323660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12039541 NANS N-acetylneuraminate synthase gene DOID:9001793 Generalized Epilepsy ISO RGD:1323660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 12039541 NANS N-acetylneuraminate synthase gene DOID:9008086 Developmental Disabilities ISO RGD:1323660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27213289 12039551 COLGALT1 collagen beta(1-O)galactosyltransferase 1 gene DOID:0112315 brain small vessel disease 3 ISO RGD:1344980 D RGD:7240710 20190911 OMIM 12039551 COLGALT1 collagen beta(1-O)galactosyltransferase 1 gene DOID:0112315 brain small vessel disease 3 ISO RGD:1344980 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brain small vessel disease 3 PMID:25741868|PMID:30412317 12039551 COLGALT1 collagen beta(1-O)galactosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1344980 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33077954 12039551 COLGALT1 collagen beta(1-O)galactosyltransferase 1 gene DOID:8725 vascular dementia ISO RGD:1344980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 12039567 TEX13B testis expressed 13B gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1347068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 12039567 TEX13B testis expressed 13B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12039567 TEX13B testis expressed 13B gene DOID:12849 autistic disorder ISO RGD:1347068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12039567 TEX13B testis expressed 13B gene DOID:630 genetic disease ISO RGD:1347068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039582 POLM DNA polymerase mu gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12039582 POLM DNA polymerase mu gene DOID:630 genetic disease ISO RGD:1317912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039611 ANXA3 annexin A3 gene DOID:1686 glaucoma ISO RGD:2119 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:18055803|REF_RGD_ID:2289160 12039611 ANXA3 annexin A3 gene DOID:630 genetic disease ISO RGD:735865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039611 ANXA3 annexin A3 gene DOID:7148 rheumatoid arthritis ISO RGD:735865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 12039611 ANXA3 annexin A3 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:735865 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12039611 ANXA3 annexin A3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12039611 ANXA3 annexin A3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12039611 ANXA3 annexin A3 gene DOID:9002762 Ovarian Neoplasms ISO RGD:735865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21435174 12039611 ANXA3 annexin A3 gene DOID:9074 systemic lupus erythematosus ISO RGD:735865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 12039637 PDIA2 protein disulfide isomerase family A member 2 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:1313029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bicuspid aortic valve 12039637 PDIA2 protein disulfide isomerase family A member 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1313029 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12039637 PDIA2 protein disulfide isomerase family A member 2 gene DOID:1826 epilepsy ISO RGD:1313029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 12039637 PDIA2 protein disulfide isomerase family A member 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1313029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12039637 PDIA2 protein disulfide isomerase family A member 2 gene DOID:630 genetic disease ISO RGD:1313029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039652 MARCKSL1 MARCKS like 1 gene DOID:11832 visual epilepsy ISO RGD:621197 D RGD:9068941 20200609 RGD PMID:11054811|REF_RGD_ID:9685329 12039652 MARCKSL1 MARCKS like 1 gene DOID:630 genetic disease ISO RGD:1352052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039664 NCKAP5 NCK associated protein 5 gene DOID:13938 amenorrhea ISO RGD:1625092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12039664 NCKAP5 NCK associated protein 5 gene DOID:576 proteinuria ISO RGD:1564507 D RGD:9068941 20200609 RGD PMID:21257920|REF_RGD_ID:12798539 12039664 NCKAP5 NCK associated protein 5 gene DOID:630 genetic disease ISO RGD:1625092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039686 PRTFDC1 phosphoribosyl transferase domain containing 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1320925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17599052 12039686 PRTFDC1 phosphoribosyl transferase domain containing 1 gene DOID:630 genetic disease ISO RGD:1320925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039686 PRTFDC1 phosphoribosyl transferase domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12039686 PRTFDC1 phosphoribosyl transferase domain containing 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1320925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17303177 12039686 PRTFDC1 phosphoribosyl transferase domain containing 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:1320925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17599052 12039699 ACY1 aminoacylase 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1351880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12039699 ACY1 aminoacylase 1 gene DOID:1059 intellectual disability ISO RGD:1351880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12039699 ACY1 aminoacylase 1 gene DOID:4450 renal cell carcinoma ISO RGD:1351880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 12039699 ACY1 aminoacylase 1 gene DOID:630 genetic disease ISO RGD:1351880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16274666|PMID:16465618|PMID:17562838|PMID:20480396|PMID:21414403|PMID:24997716|PMID:25741868|PMID:26686503|PMID:28492532|PMID:29653693 12039699 ACY1 aminoacylase 1 gene DOID:9003016 Aminoacylase 1 Deficiency ISO RGD:1351880 D RGD:7240710 20180130 OMIM 12039699 ACY1 aminoacylase 1 gene DOID:9003016 Aminoacylase 1 Deficiency ISO RGD:1351880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aminoacylase 1 deficiency PMID:16274666|PMID:16465618|PMID:17562838|PMID:20480396|PMID:21414403|PMID:24117009|PMID:24997716|PMID:25741868|PMID:26686503|PMID:28492532|PMID:29653693|PMID:31980526 12039721 SLC9A7 solute carrier family 9 member A7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12039721 SLC9A7 solute carrier family 9 member A7 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1350922 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12039721 SLC9A7 solute carrier family 9 member A7 gene DOID:0111844 X-linked intellectual developmental disorder 108 ISO RGD:1350922 D RGD:7240710 20190424 OMIM 12039721 SLC9A7 solute carrier family 9 member A7 gene DOID:0111844 X-linked intellectual developmental disorder 108 ISO RGD:1350922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 108 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 108 PMID:25741868|PMID:28492532|PMID:30335141 12039721 SLC9A7 solute carrier family 9 member A7 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1350922 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders PMID:14985377|PMID:21441247|PMID:28492532 12039721 SLC9A7 solute carrier family 9 member A7 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1350922 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 12039721 SLC9A7 solute carrier family 9 member A7 gene DOID:12849 autistic disorder ISO RGD:1350922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12039721 SLC9A7 solute carrier family 9 member A7 gene DOID:630 genetic disease ISO RGD:1350922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12039721 SLC9A7 solute carrier family 9 member A7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12039721 SLC9A7 solute carrier family 9 member A7 gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1350922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25972376 12039757 ST6GALNAC1 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 gene DOID:630 genetic disease ISO RGD:1349171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039770 ACADSB acyl-CoA dehydrogenase short/branched chain gene DOID:10907 microcephaly ISO RGD:735869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12039770 ACADSB acyl-CoA dehydrogenase short/branched chain gene DOID:12849 autistic disorder ISO RGD:735869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17883863 12039770 ACADSB acyl-CoA dehydrogenase short/branched chain gene DOID:1826 epilepsy ISO RGD:735869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizure PMID:17945527|PMID:20547083|PMID:25741868|PMID:28492532|PMID:30626930|PMID:36147814 12039770 ACADSB acyl-CoA dehydrogenase short/branched chain gene DOID:2340 craniosynostosis ISO RGD:735869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 12039770 ACADSB acyl-CoA dehydrogenase short/branched chain gene DOID:630 genetic disease ISO RGD:735869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15615815|PMID:17945527|PMID:20547083|PMID:25741868|PMID:28492532|PMID:30730842 12039770 ACADSB acyl-CoA dehydrogenase short/branched chain gene DOID:9003149 2-Methylbutyryl-CoA Dehydrogenase Deficiency ISO RGD:735869 D RGD:7240710 20180130 OMIM 12039770 ACADSB acyl-CoA dehydrogenase short/branched chain gene DOID:9003149 2-Methylbutyryl-CoA Dehydrogenase Deficiency ISO RGD:735869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase PMID:10832746|PMID:11013134|PMID:12837870|PMID:15615815|PMID:16199547|PMID:16317551|PMID:17576681|PMID:17945527|PMID:20547083|PMID:23712021|PMID:25741868|PMID:26284228|PMID:28492532|PMID:30626930|PMID:30730842|PMID:31555323|PMID:31785789|PMID:36147814|PMID:9536098 12039785 POU2AF1 POU class 2 homeobox associating factor 1 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1323347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 12039785 POU2AF1 POU class 2 homeobox associating factor 1 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1323347 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 12039785 POU2AF1 POU class 2 homeobox associating factor 1 gene DOID:1059 intellectual disability ISO RGD:1323347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12039785 POU2AF1 POU class 2 homeobox associating factor 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1323347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12039785 POU2AF1 POU class 2 homeobox associating factor 1 gene DOID:630 genetic disease ISO RGD:1323347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039785 POU2AF1 POU class 2 homeobox associating factor 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1323347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12039785 POU2AF1 POU class 2 homeobox associating factor 1 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1323347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 12039794 COPS2 COP9 signalosome subunit 2 gene DOID:2717 Bloom syndrome ISO RGD:1353959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12039794 COPS2 COP9 signalosome subunit 2 gene DOID:289 endometriosis ISO RGD:1353959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 12039794 COPS2 COP9 signalosome subunit 2 gene DOID:630 genetic disease ISO RGD:1353959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039794 COPS2 COP9 signalosome subunit 2 gene DOID:9256 colorectal cancer ISO RGD:1353959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12039817 ZCCHC4 zinc finger CCHC-type containing 4 gene DOID:630 genetic disease ISO RGD:1322864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039834 LOC100993476 regenerating islet-derived protein 3-gamma gene DOID:10763 hypertension ISO RGD:1351031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27798352 12039834 LOC100993476 regenerating islet-derived protein 3-gamma gene DOID:630 genetic disease ISO RGD:1351031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039844 FKBP1B FKBP prolyl isomerase 1B gene DOID:0050700 cardiomyopathy ISO RGD:61835 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19000375|REF_RGD_ID:2302065 12039844 FKBP1B FKBP prolyl isomerase 1B gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:62126 D RGD:9068941 20220825 MouseDO 12039844 FKBP1B FKBP prolyl isomerase 1B gene DOID:12361 Graves' disease ISO RGD:735951 D RGD:9068941 20200609 RGD PMID:15497458|REF_RGD_ID:1580387 12039844 FKBP1B FKBP prolyl isomerase 1B gene DOID:6000 congestive heart failure ISO RGD:61835 D RGD:9068941 20200609 RGD associated with Shock, Septic PMID:17637193|REF_RGD_ID:2302075 12039844 FKBP1B FKBP prolyl isomerase 1B gene DOID:630 genetic disease ISO RGD:735951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039844 FKBP1B FKBP prolyl isomerase 1B gene DOID:9000064 Cardiac Arrhythmias ISO RGD:61835 D RGD:9068941 20200609 RGD associated with Myocardial Infarction PMID:18570278|REF_RGD_ID:2302073 12039844 FKBP1B FKBP prolyl isomerase 1B gene DOID:9000184 Ventricular Fibrillation ISO RGD:61835 D RGD:9068941 20200609 RGD associated with Myocardial Reperfusion Injury PMID:17506935|REF_RGD_ID:2302077 12039858 STOX1 storkhead box 1 gene DOID:10591 pre-eclampsia ISO RGD:1321633 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Y153H (human) PMID:15806103|REF_RGD_ID:11553888 12039858 STOX1 storkhead box 1 gene DOID:10591 pre-eclampsia ISO RGD:1321633 D RGD:9068941 20200609 RGD human fetally expressed gene in a mouse model PMID:23357179|REF_RGD_ID:7248768 12039858 STOX1 storkhead box 1 gene DOID:10591 pre-eclampsia no_association ISO RGD:1321633 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Y153H (human) PMID:17617193|REF_RGD_ID:11553890 12039858 STOX1 storkhead box 1 gene DOID:10652 Alzheimer's disease severity ISO RGD:1321633 D RGD:9068941 20200609 RGD protein:increased expression:CA4 field of hippocampus (human) PMID:20110611|REF_RGD_ID:11554028 12039858 STOX1 storkhead box 1 gene DOID:630 genetic disease ISO RGD:1321633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039858 STOX1 storkhead box 1 gene DOID:9003936 Cardiomegaly ISO RGD:1321633 D RGD:9068941 20200609 RGD associated with Pre-Eclampsia; human gene fetally expressed in a mouse model PMID:26758611|REF_RGD_ID:11553897 12039858 STOX1 storkhead box 1 gene DOID:9008239 Preeclampsia/Eclampsia 4 ISO RGD:1321633 D RGD:7240710 20190327 OMIM 12039858 STOX1 storkhead box 1 gene DOID:9008239 Preeclampsia/Eclampsia 4 ISO RGD:1321633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Preeclampsia/eclampsia 4 PMID:15806103|PMID:17325670|PMID:33116287 12039871 ZNF716 zinc finger protein 716 gene DOID:0060041 autism spectrum disorder ISO RGD:1602613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25255310 12039871 ZNF716 zinc finger protein 716 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12039871 ZNF716 zinc finger protein 716 gene DOID:630 genetic disease ISO RGD:1602613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039880 KDELR1 KDEL endoplasmic reticulum protein retention receptor 1 gene DOID:630 genetic disease ISO RGD:1315569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039880 KDELR1 KDEL endoplasmic reticulum protein retention receptor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12039889 HPSE heparanase gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:736250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 12039889 HPSE heparanase gene DOID:1909 melanoma ISO RGD:736250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22240343 12039889 HPSE heparanase gene DOID:2527 nephrosis ISO RGD:736250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16899518 12039889 HPSE heparanase gene DOID:2986 IgA glomerulonephritis ISO RGD:736250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 12039889 HPSE heparanase gene DOID:630 genetic disease ISO RGD:736250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039889 HPSE heparanase gene DOID:9000965 Neoplasm Metastasis ISO RGD:736250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22240343 12039889 HPSE heparanase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15095483|PMID:18458672 12039889 HPSE heparanase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22240343 12039889 HPSE heparanase gene DOID:9008939 Breast Neoplasms ISO RGD:736250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16391819 12039914 ZNF184 zinc finger protein 184 gene DOID:10283 prostate cancer ISO RGD:1312451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12039914 ZNF184 zinc finger protein 184 gene DOID:630 genetic disease ISO RGD:1312451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039930 AQP1 aquaporin 1 (Colton blood group) gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:70369 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12039930 AQP1 aquaporin 1 (Colton blood group) gene DOID:0080202 adenoid cystic carcinoma ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12039930 AQP1 aquaporin 1 (Colton blood group) gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:70369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 12039930 AQP1 aquaporin 1 (Colton blood group) gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:2141 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, altered location:bile duct, epithelial cell PMID:18988797|REF_RGD_ID:2307071 12039930 AQP1 aquaporin 1 (Colton blood group) gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 12039930 AQP1 aquaporin 1 (Colton blood group) gene DOID:10763 hypertension ISO RGD:2141 D RGD:9068941 20200609 RGD PMID:20156423|REF_RGD_ID:5148031 12039930 AQP1 aquaporin 1 (Colton blood group) gene DOID:10763 hypertension ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 12039930 AQP1 aquaporin 1 (Colton blood group) gene DOID:10908 hydrocephalus disease_progression ISO RGD:2141 D RGD:9068941 20200609 RGD PMID:21135737|REF_RGD_ID:5148011 12039930 AQP1 aquaporin 1 (Colton blood group) gene DOID:13141 uveitis ISO RGD:2141 D RGD:9068941 20200609 RGD PMID:20383338|REF_RGD_ID:5148029 12039930 AQP1 aquaporin 1 (Colton blood group) gene DOID:14115 toxic shock syndrome ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24028651 12039930 AQP1 aquaporin 1 (Colton blood group) gene DOID:1727 retinal vein occlusion ISO RGD:2141 D RGD:9068941 20200609 RGD PMID:21487926|REF_RGD_ID:5490120 12039930 AQP1 aquaporin 1 (Colton blood group) gene DOID:1824 status epilepticus ISO RGD:2141 D RGD:9068941 20200609 RGD PMID:19619613|REF_RGD_ID:2316077 12039930 AQP1 aquaporin 1 (Colton blood group) gene DOID:305 carcinoma ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12039930 AQP1 aquaporin 1 (Colton blood group) gene DOID:4724 brain edema ISO RGD:2141 D RGD:9068941 20200609 RGD associated with Anoxia PMID:21560328|REF_RGD_ID:5148033 12039930 AQP1 aquaporin 1 (Colton blood group) gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:70369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12039930 AQP1 aquaporin 1 (Colton blood group) gene DOID:630 genetic disease ISO RGD:70369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039930 AQP1 aquaporin 1 (Colton blood group) gene DOID:636 central pontine myelinolysis ISO RGD:70369 D RGD:9068941 20200609 RGD protein:altered expression:basal part of pons: PMID:24252214|REF_RGD_ID:8696006 12039930 AQP1 aquaporin 1 (Colton blood group) gene DOID:7998 hyperthyroidism ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12621104 12039930 AQP1 aquaporin 1 (Colton blood group) gene DOID:899 choledochal cyst ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 12039930 AQP1 aquaporin 1 (Colton blood group) gene DOID:9000039 Spinal Cord Injuries ISO RGD:2141 D RGD:9068941 20200609 RGD PMID:21092735|REF_RGD_ID:5148013 12039930 AQP1 aquaporin 1 (Colton blood group) gene DOID:9000039 Spinal Cord Injuries ISO RGD:2141 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord, neuron, astrocyte PMID:18248364|REF_RGD_ID:2307072 12039930 AQP1 aquaporin 1 (Colton blood group) gene DOID:9000039 Spinal Cord Injuries ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21092735 12039930 AQP1 aquaporin 1 (Colton blood group) gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12039930 AQP1 aquaporin 1 (Colton blood group) gene DOID:9000641 Pain ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20018876 12039930 AQP1 aquaporin 1 (Colton blood group) gene DOID:9002860 Cardiac Edema ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22865611 12039930 AQP1 aquaporin 1 (Colton blood group) gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12039930 AQP1 aquaporin 1 (Colton blood group) gene DOID:9004180 Aquaporin 1 Deficiency ISO RGD:70369 D RGD:7240710 20221130 OMIM 12039930 AQP1 aquaporin 1 (Colton blood group) gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12039930 AQP1 aquaporin 1 (Colton blood group) gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2141 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:19596320|REF_RGD_ID:2316078 12039930 AQP1 aquaporin 1 (Colton blood group) gene DOID:9351 diabetes mellitus ISO RGD:2141 D RGD:9068941 20200609 RGD protein:altered localization:retina PMID:19748503|REF_RGD_ID:2316076 12039946 PRR9 proline rich 9 gene DOID:0111940 immunodeficiency 42 ISO RGD:4143661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12039946 PRR9 proline rich 9 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:4143661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12039946 PRR9 proline rich 9 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:4143661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12039946 PRR9 proline rich 9 gene DOID:1540 parathyroid carcinoma ISO RGD:4143661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12039946 PRR9 proline rich 9 gene DOID:5812 MHC class II deficiency ISO RGD:4143661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12039946 PRR9 proline rich 9 gene DOID:630 genetic disease ISO RGD:4143661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039946 PRR9 proline rich 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:4143661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12039973 DCAF12 DDB1 and CUL4 associated factor 12 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1346609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12039973 DCAF12 DDB1 and CUL4 associated factor 12 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1346609 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12039973 DCAF12 DDB1 and CUL4 associated factor 12 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1346609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12039973 DCAF12 DDB1 and CUL4 associated factor 12 gene DOID:630 genetic disease ISO RGD:1346609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039973 DCAF12 DDB1 and CUL4 associated factor 12 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1346609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12039973 DCAF12 DDB1 and CUL4 associated factor 12 gene DOID:9870 galactosemia ISO RGD:1346609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12039989 CMTM7 CKLF like MARVEL transmembrane domain containing 7 gene DOID:630 genetic disease ISO RGD:1313855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039997 SIRT4 sirtuin 4 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1310413 D RGD:9068941 20200609 RGD PMID:20651844|REF_RGD_ID:9586052 12039997 SIRT4 sirtuin 4 gene DOID:12932 endomyocardial fibrosis ISO RGD:1321303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27099261 12039997 SIRT4 sirtuin 4 gene DOID:630 genetic disease ISO RGD:1321303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12039997 SIRT4 sirtuin 4 gene DOID:9001981 Weight Loss ISO RGD:1321303 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:35134463 12039997 SIRT4 sirtuin 4 gene DOID:9003936 Cardiomegaly ISO RGD:1321303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27099261 12039997 SIRT4 sirtuin 4 gene DOID:9007692 Insulin Resistance ISO RGD:1310413 D RGD:9068941 20200609 RGD PMID:20651844|REF_RGD_ID:9586052 12040011 FAM184A family with sequence similarity 184 member A gene DOID:1059 intellectual disability ISO RGD:1322675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 12040011 FAM184A family with sequence similarity 184 member A gene DOID:10907 microcephaly ISO RGD:1322675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 12040011 FAM184A family with sequence similarity 184 member A gene DOID:12849 autistic disorder ISO RGD:1322675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:24824130 12040011 FAM184A family with sequence similarity 184 member A gene DOID:1826 epilepsy ISO RGD:1322675 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12040011 FAM184A family with sequence similarity 184 member A gene DOID:303 substance-related disorder ISO RGD:1322675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12040011 FAM184A family with sequence similarity 184 member A gene DOID:630 genetic disease ISO RGD:1322675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040011 FAM184A family with sequence similarity 184 member A gene DOID:9000495 Tremor ISO RGD:1322675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 12040047 FAM111B FAM111 trypsin like peptidase B gene DOID:1059 intellectual disability ISO RGD:1603483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12040047 FAM111B FAM111 trypsin like peptidase B gene DOID:4450 renal cell carcinoma ISO RGD:1603483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 12040047 FAM111B FAM111 trypsin like peptidase B gene DOID:630 genetic disease ISO RGD:1603483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040047 FAM111B FAM111 trypsin like peptidase B gene DOID:633 myositis ISO RGD:1603483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myositis PMID:25741868 12040047 FAM111B FAM111 trypsin like peptidase B gene DOID:684 hepatocellular carcinoma ISO RGD:1603483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12040047 FAM111B FAM111 trypsin like peptidase B gene DOID:9001346 Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis ISO RGD:1603483 D RGD:7240710 20180130 OMIM 12040047 FAM111B FAM111 trypsin like peptidase B gene DOID:9001346 Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis ISO RGD:1603483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sclerosing poikiloderma with tendon and pulmonary involvement PMID:17034542|PMID:24268661|PMID:25741868|PMID:26471370|PMID:26495788|PMID:27406236|PMID:27748098 12040047 FAM111B FAM111 trypsin like peptidase B gene DOID:9003295 Heterotopic Ossification ISO RGD:1603483 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ectopic ossification PMID:25741868 12040047 FAM111B FAM111 trypsin like peptidase B gene DOID:9003358 Kyphosis ISO RGD:1603483 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Kyphosis PMID:25741868 12040047 FAM111B FAM111 trypsin like peptidase B gene DOID:9007661 Dwarfism ISO RGD:1603483 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12040055 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:0112344 hereditary spastic paraplegia 79 ISO RGD:733510 D RGD:7240710 20180130 OMIM 12040055 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:0112344 hereditary spastic paraplegia 79 ISO RGD:733510 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | ClinVar Annotator: match by term: Spastic paraplegia 79A, autosomal dominant, with ataxia PMID:10203348|PMID:10563640|PMID:12408865|PMID:15048890|PMID:16450370|PMID:18411255|PMID:19864305|PMID:21268678|PMID:22839974|PMID:23359680|PMID:25741868|PMID:28007905|PMID:28492532|PMID:3340629|PMID:35986737|PMID:4514348 12040055 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:10652 Alzheimer's disease ISO RGD:733510 D RGD:9068941 20200609 RGD PMID:14722078|REF_RGD_ID:1580538 12040055 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:14330 Parkinson's disease ISO RGD:733510 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Dominant PMID:25741868|PMID:28492532 12040055 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:2367 neuroaxonal dystrophy ISO RGD:736277 D RGD:9068941 20200609 RGD DNA:deletion PMID:11555633|REF_RGD_ID:1302546 12040055 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 12040055 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:5679 retinal disease ISO RGD:3928 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina PMID:18836575|REF_RGD_ID:5490154 12040055 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:574 peripheral nervous system disease ISO RGD:733510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16797537 12040055 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:630 genetic disease ISO RGD:733510 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 12040055 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:684 hepatocellular carcinoma ISO RGD:733510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18666234 12040055 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:733510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16965602 12040055 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:733510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15930319 12040055 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:9000123 Deglutition Disorders ISO RGD:736277 D RGD:9068941 20200609 RGD DNA:deletion PMID:11555633|REF_RGD_ID:1302546 12040055 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:733510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 12040055 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:9006626 Parkinson's Disease 5 ISO RGD:733510 D RGD:7240710 20230505 OMIM 12040055 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:9006626 Parkinson's Disease 5 ISO RGD:733510 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Parkinson disease 5, autosomal dominant, susceptibility to PMID:10203348|PMID:10563640|PMID:12408865|PMID:15048890|PMID:16450370|PMID:18411255|PMID:18550537|PMID:19864305|PMID:21268678|PMID:22839974|PMID:25741868|PMID:28007905|PMID:28492532|PMID:4514348|PMID:9774100 12040055 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:733510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18958481 12040070 SURF4 surfeit 4 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1322534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 12040070 SURF4 surfeit 4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1322534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12040070 SURF4 surfeit 4 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1322534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12040070 SURF4 surfeit 4 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1322534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12040070 SURF4 surfeit 4 gene DOID:0081097 Rafiq syndrome ISO RGD:1322534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12040070 SURF4 surfeit 4 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1322534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12040070 SURF4 surfeit 4 gene DOID:3652 Leigh disease ISO RGD:1322534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12040070 SURF4 surfeit 4 gene DOID:630 genetic disease ISO RGD:1322534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040070 SURF4 surfeit 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12040079 GPR137B G protein-coupled receptor 137B gene DOID:1540 parathyroid carcinoma ISO RGD:1316484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12040079 GPR137B G protein-coupled receptor 137B gene DOID:630 genetic disease ISO RGD:1316484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040079 GPR137B G protein-coupled receptor 137B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12040092 ADAM32 ADAM metallopeptidase domain 32 gene DOID:630 genetic disease ISO RGD:1345583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040128 TASP1 taspase 1 gene DOID:630 genetic disease ISO RGD:1318453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040128 TASP1 taspase 1 gene DOID:9000991 SULEIMAN-EL-HATTAB SYNDROME ISO RGD:1318453 D RGD:7240710 20201118 OMIM 12040128 TASP1 taspase 1 gene DOID:9000991 SULEIMAN-EL-HATTAB SYNDROME ISO RGD:1318453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Suleiman-El-Hattab syndrome PMID:25741868|PMID:29633245|PMID:31209944 12040128 TASP1 taspase 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:1318453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies PMID:25741868|PMID:29633245|PMID:31209944 12040128 TASP1 taspase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1318453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:31209944 12040155 RBP5 retinol binding protein 5 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1344722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12040155 RBP5 retinol binding protein 5 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1344722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12040155 RBP5 retinol binding protein 5 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1344722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12040155 RBP5 retinol binding protein 5 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1344722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12040155 RBP5 retinol binding protein 5 gene DOID:0111621 Temtamy syndrome ISO RGD:1344722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12040155 RBP5 retinol binding protein 5 gene DOID:630 genetic disease ISO RGD:1344722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040155 RBP5 retinol binding protein 5 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1344722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12040165 MLX MAX dimerization protein MLX gene DOID:0070311 oligoasthenoteratozoospermia ISO RGD:1619244 D RGD:9068941 20230330 MouseDO 12040165 MLX MAX dimerization protein MLX gene DOID:0080495 ovarian dysgenesis 3 ISO RGD:1602902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 3 PMID:31042289 12040165 MLX MAX dimerization protein MLX gene DOID:0111394 mucopolysaccharidosis type IIIB ISO RGD:1602902 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B PMID:28492532 12040165 MLX MAX dimerization protein MLX gene DOID:630 genetic disease ISO RGD:1602902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040185 ZMYM1 zinc finger MYM-type containing 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1315977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12040185 ZMYM1 zinc finger MYM-type containing 1 gene DOID:630 genetic disease ISO RGD:1315977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040232 ZNF347 zinc finger protein 347 gene DOID:630 genetic disease ISO RGD:1343280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040267 ARRDC3 arrestin domain containing 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348140 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12040267 ARRDC3 arrestin domain containing 3 gene DOID:630 genetic disease ISO RGD:1348140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040267 ARRDC3 arrestin domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12040267 ARRDC3 arrestin domain containing 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348140 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12040267 ARRDC3 arrestin domain containing 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1348140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25038754 12040296 KATNIP katanin interacting protein gene DOID:0050777 Joubert syndrome ISO RGD:1604044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:26714646 12040296 KATNIP katanin interacting protein gene DOID:0110995 Joubert Syndrome 26 ISO RGD:1604044 D RGD:7240710 20190315 OMIM 12040296 KATNIP katanin interacting protein gene DOID:0110995 Joubert Syndrome 26 ISO RGD:1604044 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Joubert syndrome 26 PMID:25741868|PMID:26714646|PMID:27245168|PMID:28492532 12040296 KATNIP katanin interacting protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 12040296 KATNIP katanin interacting protein gene DOID:630 genetic disease ISO RGD:1604044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12040336 PERM1 PPARGC1 and ESRR induced regulator, muscle 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606208 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12040349 APBB3 amyloid beta precursor protein binding family B member 3 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:733384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12040349 APBB3 amyloid beta precursor protein binding family B member 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733384 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12040349 APBB3 amyloid beta precursor protein binding family B member 3 gene DOID:630 genetic disease ISO RGD:733384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040349 APBB3 amyloid beta precursor protein binding family B member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12040349 APBB3 amyloid beta precursor protein binding family B member 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733384 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12040369 ANAPC1 anaphase promoting complex subunit 1 gene DOID:630 genetic disease ISO RGD:1353292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040369 ANAPC1 anaphase promoting complex subunit 1 gene DOID:9002189 High Myopia ISO RGD:1353292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12040369 ANAPC1 anaphase promoting complex subunit 1 gene DOID:9003349 Rothmund-Thomson Syndrome Type 1 ISO RGD:1353292 D RGD:7240710 20191030 OMIM 12040369 ANAPC1 anaphase promoting complex subunit 1 gene DOID:9003349 Rothmund-Thomson Syndrome Type 1 ISO RGD:1353292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rothmund-Thomson syndrome type 1 PMID:25741868|PMID:28492532|PMID:31303264 12040394 PRPF18 pre-mRNA processing factor 18 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:731692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12040394 PRPF18 pre-mRNA processing factor 18 gene DOID:630 genetic disease ISO RGD:731692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040414 ERAS ES cell expressed Ras gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12040414 ERAS ES cell expressed Ras gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1345319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12040414 ERAS ES cell expressed Ras gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1345319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12040414 ERAS ES cell expressed Ras gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1345319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12040414 ERAS ES cell expressed Ras gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1345319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12040414 ERAS ES cell expressed Ras gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1345319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12040414 ERAS ES cell expressed Ras gene DOID:12849 autistic disorder ISO RGD:1345319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12040414 ERAS ES cell expressed Ras gene DOID:630 genetic disease ISO RGD:1345319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040420 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:0060041 autism spectrum disorder ISO RGD:732251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:17173049|PMID:21984749|PMID:21984750|PMID:21984751|PMID:25255310|PMID:25356970|PMID:25741868|PMID:29719671|PMID:30763456 12040420 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:732251 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12040420 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:0070091 schizophrenia 15 ISO RGD:732251 D RGD:7240710 20180130 OMIM 12040420 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:0070091 schizophrenia 15 ISO RGD:732251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 22q13-RELATED | ClinVar Annotator: match by term: SHANK3-Related Disorder | ClinVar Annotator: match by term: Schizophrenia 15 PMID:20385823|PMID:25188300|PMID:25741868|PMID:28135719|PMID:29719671|PMID:30763456 12040420 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:732251 D RGD:7240710 20180130 OMIM 12040420 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:732251 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome PMID:17173049|PMID:20301377|PMID:21062623|PMID:22892527|PMID:23758743|PMID:24033266|PMID:24759409|PMID:25188300|PMID:25356970|PMID:25724810|PMID:25741868|PMID:27554343|PMID:28135719|PMID:29719671|PMID:30537371|PMID:30763456|PMID:32015180|PMID:32382396 12040420 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:1059 intellectual disability ISO RGD:732251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20385823|PMID:25167861|PMID:25188300|PMID:25741868|PMID:28135719|PMID:29719671|PMID:31690835|PMID:32581362 12040420 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:12849 autistic disorder ISO RGD:732251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:25741868 12040420 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:13938 amenorrhea ISO RGD:732251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12040420 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:2468 psychotic disorder ISO RGD:732251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Psychotic disorder PMID:24759409|PMID:25741868 12040420 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:2843 long QT syndrome ISO RGD:732251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12040420 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:5419 schizophrenia ISO RGD:732251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12040420 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:5419 schizophrenia ISO RGD:732252 D RGD:9068941 20220825 MouseDO OMIM:181500 12040420 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:630 genetic disease ISO RGD:732251 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11431708|PMID:11733747|PMID:12920066|PMID:15458844|PMID:16439662|PMID:17173049|PMID:17999366|PMID:18414213|PMID:18615476|PMID:20385823|PMID:21378602|PMID:22670140|PMID:22892527|PMID:23472757|PMID:23495017|PMID:23533028|PMID:24033266|PMID:25188300|PMID:25356970|PMID:25621899|PMID:25724810|PMID:25741868|PMID:26045941|PMID:26185613|PMID:26467025|PMID:26544041|PMID:27118998|PMID:27554343|PMID:28135719|PMID:28371232|PMID:29719671|PMID:30763456|PMID:32581362 12040420 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:17173049|PMID:25356970|PMID:25741868|PMID:29719671|PMID:30763456 12040420 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:9005466 Language Development Disorders ISO RGD:732251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16284256|PMID:17173049 12040420 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:9008086 Developmental Disabilities ISO RGD:732251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:32581362 12040420 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:9008165 Chromosome Deletion ISO RGD:732251 D RGD:9068941 20200609 RGD PMID:12920066|REF_RGD_ID:1599213 12040445 CLEC3B C-type lectin domain family 3 member B gene DOID:13300 Scheuermann's disease ISO RGD:1553639 D RGD:9068941 20220825 MouseDO OMIM:181440 12040445 CLEC3B C-type lectin domain family 3 member B gene DOID:630 genetic disease ISO RGD:1602501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040445 CLEC3B C-type lectin domain family 3 member B gene DOID:8398 osteoarthritis disease_progression ISO RGD:1602501 D RGD:9068941 20200609 RGD PMID:15334463|REF_RGD_ID:1625347 12040445 CLEC3B C-type lectin domain family 3 member B gene DOID:9005553 Retinal Macular Dystrophy 4 ISO RGD:1602501 D RGD:7240710 20220810 OMIM 12040445 CLEC3B C-type lectin domain family 3 member B gene DOID:9005553 Retinal Macular Dystrophy 4 ISO RGD:1602501 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Macular dystrophy, retinal, 4 PMID:35331648 12040452 PCDHB14 protocadherin beta 14 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1322463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12040452 PCDHB14 protocadherin beta 14 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1322463 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12040452 PCDHB14 protocadherin beta 14 gene DOID:630 genetic disease ISO RGD:1322463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040452 PCDHB14 protocadherin beta 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12040452 PCDHB14 protocadherin beta 14 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322463 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12040458 TEX29 testis expressed 29 gene DOID:2222 factor X deficiency ISO RGD:1353968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12040458 TEX29 testis expressed 29 gene DOID:630 genetic disease ISO RGD:1353968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040482 NAA11 N-alpha-acetyltransferase 11, NatA catalytic subunit gene DOID:630 genetic disease ISO RGD:1625645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040482 NAA11 N-alpha-acetyltransferase 11, NatA catalytic subunit gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1625645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12040488 MYCBP2 MYC binding protein 2 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1323830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12040488 MYCBP2 MYC binding protein 2 gene DOID:10283 prostate cancer ISO RGD:1323830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12040488 MYCBP2 MYC binding protein 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1323830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10528251|PMID:20127975|PMID:20157158|PMID:22589734|PMID:28492532|PMID:30394532|PMID:31406620|PMID:32393339|PMID:8001159 12040488 MYCBP2 MYC binding protein 2 gene DOID:630 genetic disease ISO RGD:1323830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040488 MYCBP2 MYC binding protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1323830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12040597 SPOCK3 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 3 gene DOID:630 genetic disease ISO RGD:1313840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040647 TLR8 toll like receptor 8 gene DOID:0050777 Joubert syndrome ISO RGD:1605396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:27081566|PMID:28492532 12040647 TLR8 toll like receptor 8 gene DOID:11168 anogenital venereal wart ISO RGD:1605396 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 12040647 TLR8 toll like receptor 8 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1605396 D RGD:9068941 20200609 RGD associated with Bronchiolitis; mRNA:increased expression:nasopharynx (human) PMID:19386802|REF_RGD_ID:5129471 12040647 TLR8 toll like receptor 8 gene DOID:12849 autistic disorder ISO RGD:1605396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12040647 TLR8 toll like receptor 8 gene DOID:1883 hepatitis C ISO RGD:1605396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27385120 12040647 TLR8 toll like receptor 8 gene DOID:2773 contact dermatitis ISO RGD:1605396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12040647 TLR8 toll like receptor 8 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1620654 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (mouse) PMID:18256364|REF_RGD_ID:7246909 12040647 TLR8 toll like receptor 8 gene DOID:630 genetic disease ISO RGD:1605396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12040647 TLR8 toll like receptor 8 gene DOID:718 autoimmune hemolytic anemia ISO RGD:1605396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune hemolytic anemia PMID:25741868|PMID:33512449|PMID:34981838 12040647 TLR8 toll like receptor 8 gene DOID:8398 osteoarthritis ISO RGD:1605396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteoarthritis 12040647 TLR8 toll like receptor 8 gene DOID:9004058 Immunodeficiency 98 with Autoinflammation, X-Linked ISO RGD:1605396 D RGD:7240710 20220427 OMIM 12040647 TLR8 toll like receptor 8 gene DOID:9004058 Immunodeficiency 98 with Autoinflammation, X-Linked ISO RGD:1605396 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Immunodeficiency 98 with autoinflammation, X-linked PMID:25741868|PMID:28492532|PMID:33512449|PMID:34981838 12040647 TLR8 toll like receptor 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12040667 CD163 CD163 molecule gene DOID:0050120 hemophagocytic lymphohistiocytosis ISO RGD:1321258 D RGD:9068941 20210702 RGD protein:increased expression:blood serum (human) PMID:15613100|REF_RGD_ID:127285796 12040667 CD163 CD163 molecule gene DOID:0050523 adult T-cell leukemia/lymphoma disease_progression ISO RGD:1321258 D RGD:9068941 20210226 RGD protein:increased expression:lymph node tumor (human) PMID:23557330|REF_RGD_ID:42721976 12040667 CD163 CD163 molecule gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1321258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12040667 CD163 CD163 molecule gene DOID:0080208 non-alcoholic fatty liver disease exacerbates ISO RGD:1321258 D RGD:9068941 20210709 RGD protein:increased expression:blood serum (human) PMID:31027316|REF_RGD_ID:127345132 12040667 CD163 CD163 molecule gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1321258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12040667 CD163 CD163 molecule gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1321258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12040667 CD163 CD163 molecule gene DOID:0080600 COVID-19 ISO RGD:1321258 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12040667 CD163 CD163 molecule gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1321258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12040667 CD163 CD163 molecule gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1321258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 12040667 CD163 CD163 molecule gene DOID:0081292 traumatic brain injury ISO RGD:1310382 D RGD:9068941 20210702 RGD protein:increased expression:brain, macrophage (rat) PMID:22583855|REF_RGD_ID:127285798 12040667 CD163 CD163 molecule gene DOID:0111621 Temtamy syndrome ISO RGD:1321258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12040667 CD163 CD163 molecule gene DOID:10887 lepromatous leprosy ISO RGD:1321258 D RGD:9068941 20210702 RGD protein:increased expression:blood serum (human) PMID:22851198|REF_RGD_ID:39939078 12040667 CD163 CD163 molecule gene DOID:10887 lepromatous leprosy exacerbates ISO RGD:1321258 D RGD:9068941 20210709 RGD protein:increased expression:blood serum (human) PMID:28355218|REF_RGD_ID:127345133 12040667 CD163 CD163 molecule gene DOID:11077 brucellosis treatment ISO RGD:1321258 D RGD:9068941 20210723 RGD PMID:32069255|REF_RGD_ID:149735531 12040667 CD163 CD163 molecule gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome exacerbates ISO RGD:1321258 D RGD:9068941 20210702 RGD protein:increased expression:CD14-positive monocyte (human) PMID:29857122|REF_RGD_ID:127285683 12040667 CD163 CD163 molecule gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome exacerbates ISO RGD:1321258 D RGD:9068941 20210702 RGD protein:increased expression:blood plasma (human) PMID:25789628|REF_RGD_ID:127285679 12040667 CD163 CD163 molecule gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome exacerbates ISO RGD:1321258 D RGD:9068941 20210709 RGD protein:increased expression:CD14-positive, CD16-positive monocyte, blood plasma (human) PMID:25392926|REF_RGD_ID:127345131 12040667 CD163 CD163 molecule gene DOID:12365 malaria exacerbates ISO RGD:1321258 D RGD:9068941 20210702 RGD protein:increased expression:blood plasma (human) PMID:22290142|REF_RGD_ID:127285797 12040667 CD163 CD163 molecule gene DOID:12365 malaria severity ISO RGD:1321258 D RGD:9068941 20210723 RGD protein:altered expression:blood plasma (human) PMID:18632918|REF_RGD_ID:149735529 12040667 CD163 CD163 molecule gene DOID:13141 uveitis ISO RGD:1310382 D RGD:9068941 20210702 RGD associated with Endotoxemia;protein:increased expression:iris (rat) PMID:19347047|REF_RGD_ID:2312506 12040667 CD163 CD163 molecule gene DOID:13254 diverticulitis of colon exacerbates ISO RGD:1321258 D RGD:9068941 20210702 RGD protein:increased expression:sigmoid colon (human) PMID:21553154|REF_RGD_ID:40925945 12040667 CD163 CD163 molecule gene DOID:1749 squamous cell carcinoma ISO RGD:1321258 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 12040667 CD163 CD163 molecule gene DOID:2018 hyperinsulinism ISO RGD:1321258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 12040667 CD163 CD163 molecule gene DOID:2280 hidradenitis suppurativa ISO RGD:1321258 D RGD:9068941 20210702 RGD protein:increased expression:dermis (human) PMID:29603182|REF_RGD_ID:127285799 12040667 CD163 CD163 molecule gene DOID:2394 ovarian cancer ameliorates ISO RGD:1321259 D RGD:9068941 20210723 RGD PMID:31951251|REF_RGD_ID:149735527 12040667 CD163 CD163 molecule gene DOID:2913 acute pancreatitis ISO RGD:1321258 D RGD:9068941 20210730 RGD associated with liver disease;protein:increased expression:blood serum (human) PMID:26339412|REF_RGD_ID:11251207 12040667 CD163 CD163 molecule gene DOID:2921 glomerulonephritis ISO RGD:1321258 D RGD:9068941 20210730 RGD associated with liver disease;protein:increased expression:blood serum (human) PMID:26339412|REF_RGD_ID:11251207 12040667 CD163 CD163 molecule gene DOID:2957 pulmonary tuberculosis ISO RGD:1321258 D RGD:9068941 20210702 RGD protein:increased expression:blood plasma, CD14-positive monocyte (human) PMID:27685837|REF_RGD_ID:127285801 12040667 CD163 CD163 molecule gene DOID:2957 pulmonary tuberculosis exacerbates ISO RGD:1321258 D RGD:9068941 20210709 RGD protein:increased expression:blood serum (human) PMID:27684274|REF_RGD_ID:127345136 12040667 CD163 CD163 molecule gene DOID:2986 IgA glomerulonephritis ISO RGD:1321258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 12040667 CD163 CD163 molecule gene DOID:3407 carotid artery disease ISO RGD:1321258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17095719 12040667 CD163 CD163 molecule gene DOID:3910 lung adenocarcinoma ISO RGD:1321258 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 12040667 CD163 CD163 molecule gene DOID:4195 hyperglycemia ISO RGD:1321258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 12040667 CD163 CD163 molecule gene DOID:4325 Ebola hemorrhagic fever exacerbates ISO RGD:1321258 D RGD:9068941 20210723 RGD protein:increased expression:blood plasma (human) PMID:30666927|REF_RGD_ID:149735528 12040667 CD163 CD163 molecule gene DOID:5082 liver cirrhosis ISO RGD:1321258 D RGD:9068941 20210730 RGD protein:increased expression:blood serum (human) PMID:26339412|REF_RGD_ID:11251207 12040667 CD163 CD163 molecule gene DOID:5082 liver cirrhosis exacerbates ISO RGD:1321258 D RGD:9068941 20210702 RGD associated with Chronic Hepatitis B, Chronic Hepatitis C;protein:increased expression:blood plasma (human) PMID:24623375|REF_RGD_ID:127285681 12040667 CD163 CD163 molecule gene DOID:526 human immunodeficiency virus infectious disease exacerbates ISO RGD:1321258 D RGD:9068941 20210702 RGD protein:increased expression:blood plasma (human) PMID:23916293|REF_RGD_ID:127285682 12040667 CD163 CD163 molecule gene DOID:526 human immunodeficiency virus infectious disease treatment ISO RGD:1321258 D RGD:9068941 20210730 RGD PMID:24594990|REF_RGD_ID:149735575 12040667 CD163 CD163 molecule gene DOID:552 pneumonia ISO RGD:1321258 D RGD:9068941 20210730 RGD associated with liver disease;protein:increased expression:blood serum (human) PMID:26339412|REF_RGD_ID:11251207 12040667 CD163 CD163 molecule gene DOID:630 genetic disease ISO RGD:1321258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040667 CD163 CD163 molecule gene DOID:684 hepatocellular carcinoma ISO RGD:1321258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12040667 CD163 CD163 molecule gene DOID:8476 Whipple disease ISO RGD:1321258 D RGD:9068941 20210730 RGD protein:increased expression:duodenum, macrophage (human) PMID:19664628|REF_RGD_ID:149735573 12040667 CD163 CD163 molecule gene DOID:9000238 Acute-On-Chronic Liver Failure exacerbates ISO RGD:1321258 D RGD:9068941 20210702 RGD associated with Chronic Hepatitis B;protein:increased expression:blood plasma (human) PMID:23687420|REF_RGD_ID:127285680 12040667 CD163 CD163 molecule gene DOID:9000509 Epstein-Barr Virus Infections ISO RGD:1321258 D RGD:9068941 20210709 RGD associated with Hodgkin's lymphoma;protein:increased expression:macrophage (human) PMID:21602260|REF_RGD_ID:40925915 12040667 CD163 CD163 molecule gene DOID:9000509 Epstein-Barr Virus Infections ISO RGD:1321258 D RGD:9068941 20210709 RGD associated with Hodgkin's lymphoma;protein:increased expression:multiple (human) PMID:21071500|REF_RGD_ID:40925944 12040667 CD163 CD163 molecule gene DOID:9000684 Porcine Reproductive and Respiratory Syndrome ameliorates ISO RGD:1603525 D RGD:9068941 20210702 RGD PMID:30745836|REF_RGD_ID:127285677 12040667 CD163 CD163 molecule gene DOID:9000684 Porcine Reproductive and Respiratory Syndrome susceptibility ISO RGD:14034736 D RGD:9068941 20210702 RGD PMID:27847356|PMID:31440241|REF_RGD_ID:127285645|REF_RGD_ID:127285676 12040667 CD163 CD163 molecule gene DOID:9001553 Spinal Cord Compression disease_progression ISO RGD:1310382 D RGD:9068941 20210730 RGD protein:increased expression:gray matter of spinal cord, white matter of spinal cord (rat) PMID:23775900|REF_RGD_ID:149735576 12040667 CD163 CD163 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1321258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12040667 CD163 CD163 molecule gene DOID:9002011 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9 exacerbates ISO RGD:1321258 D RGD:9068941 20210709 RGD associated with Human Influenza;protein:increased expression:blood serum (human) PMID:23149357|REF_RGD_ID:127345135 12040667 CD163 CD163 molecule gene DOID:9003281 Spontaneous Abortions ISO RGD:1321258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12040667 CD163 CD163 molecule gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis exacerbates ISO RGD:1321258 D RGD:9068941 20210702 RGD protein:increased expression:blood serum (human) PMID:27094919|REF_RGD_ID:127285685 12040667 CD163 CD163 molecule gene DOID:9004017 Chronic Hepatitis C exacerbates ISO RGD:1321258 D RGD:9068941 20210730 RGD protein:increased expression:blood serum (human) PMID:26554542|REF_RGD_ID:149735574 12040667 CD163 CD163 molecule gene DOID:9004484 Sepsis ISO RGD:1321258 D RGD:9068941 20210702 RGD protein:increased expression:blood serum, CD-14 positive monocyte (human) PMID:24637679|REF_RGD_ID:127285802 12040667 CD163 CD163 molecule gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:1321258 D RGD:9068941 20210709 RGD protein:increased expression:blood serum (human) PMID:31027316|REF_RGD_ID:127345132 12040667 CD163 CD163 molecule gene DOID:9007041 Actinobacillus Infections ISO RGD:14034736 D RGD:9068941 20210709 RGD protein:increased expression:lung (pig) PMID:33287430|REF_RGD_ID:127345134 12040667 CD163 CD163 molecule gene DOID:9007329 Human Viral Hepatitis ISO RGD:1321258 D RGD:9068941 20210723 RGD associated with human immunodeficiency virus infectious disease, opioid abuse;protein:increased expression:blood plasma (human) PMID:31687981|REF_RGD_ID:149735532 12040667 CD163 CD163 molecule gene DOID:9007692 Insulin Resistance ISO RGD:1321258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 12040667 CD163 CD163 molecule gene DOID:9007692 Insulin Resistance exacerbates ISO RGD:1321258 D RGD:9068941 20210730 RGD associated with hepatitis C, human immunodeficiency virus infectious disease;protein:increased expression:blood plasma (human) PMID:26554542|REF_RGD_ID:149735574 12040667 CD163 CD163 molecule gene DOID:9007772 Abdominal Obesity exacerbates ISO RGD:1321258 D RGD:9068941 20210709 RGD protein:increased expression:blood serum (human) PMID:31027316|REF_RGD_ID:127345132 12040667 CD163 CD163 molecule gene DOID:9007874 Liver Failure ISO RGD:1321258 D RGD:9068941 20210702 RGD associated with hepatitis B;protein:increased expression:liver, peripheral blood mononuclear cell (human) PMID:24597777|REF_RGD_ID:127285684 12040667 CD163 CD163 molecule gene DOID:9007874 Liver Failure ISO RGD:1321258 D RGD:9068941 20210730 RGD protein:increased expression:blood serum (human) PMID:26339412|REF_RGD_ID:11251207 12040667 CD163 CD163 molecule gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1321258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12040667 CD163 CD163 molecule gene DOID:9008163 Chronic Hepatitis B ISO RGD:1321258 D RGD:9068941 20210730 RGD protein:increased expression:blood serum (human) PMID:26339412|REF_RGD_ID:11251207 12040667 CD163 CD163 molecule gene DOID:9008885 Staphylococcal Infections exacerbates ISO RGD:1321259 D RGD:9068941 20210702 RGD PMID:32199911|REF_RGD_ID:127285678 12040667 CD163 CD163 molecule gene DOID:9111 cutaneous leishmaniasis ISO RGD:1321258 D RGD:9068941 20210709 RGD mRNA, protein:increased expression:skin of body, blood plasma, CD14-positive monocyte (human) PMID:32023254|REF_RGD_ID:127345130 12040667 CD163 CD163 molecule gene DOID:9146 visceral leishmaniasis exacerbates ISO RGD:1321258 D RGD:9068941 20210709 RGD protein:increased expression:blood serum (human) PMID:28355218|REF_RGD_ID:127345133 12040667 CD163 CD163 molecule gene DOID:9261 nasopharynx carcinoma exacerbates ISO RGD:1321258 D RGD:9068941 20210702 RGD protein:increased expression:nasopharynx, macrophage (human) PMID:28395580|REF_RGD_ID:127285800 12040667 CD163 CD163 molecule gene DOID:9452 fatty liver disease ISO RGD:1321258 D RGD:9068941 20210730 RGD associated with hepatitis B;protein:increased expression:blood serum (human) PMID:26339412|REF_RGD_ID:11251207 12040667 CD163 CD163 molecule gene DOID:9970 obesity ISO RGD:1321258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 12040700 GMIP GEM interacting protein gene DOID:630 genetic disease ISO RGD:1344953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040729 CD244 CD244 molecule gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:736436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12040729 CD244 CD244 molecule gene DOID:10283 prostate cancer ISO RGD:736436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12040729 CD244 CD244 molecule gene DOID:1540 parathyroid carcinoma ISO RGD:736436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12040729 CD244 CD244 molecule gene DOID:630 genetic disease ISO RGD:736436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040729 CD244 CD244 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:736436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis PMID:18794858 12040729 CD244 CD244 molecule gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:736436 D RGD:7240710 20190329 OMIM 12040729 CD244 CD244 molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12040748 CLPTM1L CLPTM1 like gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP: :rs402710(human) PMID:28025427|REF_RGD_ID:150530487 12040748 CLPTM1L CLPTM1 like gene DOID:0050921 pharynx squamous cell carcinoma sexual_dimorphism ISO RGD:1605932 D RGD:9068941 20211224 RGD in males;DNA:SNP: :rs401681(human) PMID:31429604|REF_RGD_ID:150530637 12040748 CLPTM1L CLPTM1 like gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1605932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 12040748 CLPTM1L CLPTM1 like gene DOID:10283 prostate cancer ISO RGD:1605932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12040748 CLPTM1L CLPTM1 like gene DOID:1037 lymphoid leukemia ISO RGD:1605932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24292274 12040748 CLPTM1L CLPTM1 like gene DOID:11054 urinary bladder cancer ISO RGD:1605932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19151717 12040748 CLPTM1L CLPTM1 like gene DOID:1324 lung cancer ISO RGD:1550157 D RGD:9068941 20211217 RGD PMID:24366883|REF_RGD_ID:150530483 12040748 CLPTM1L CLPTM1 like gene DOID:1324 lung cancer disease_progression ISO RGD:1605932 D RGD:9068941 20211224 RGD PMID:27062701|REF_RGD_ID:150537097 12040748 CLPTM1L CLPTM1 like gene DOID:1324 lung cancer sexual_dimorphism ISO RGD:1605932 D RGD:9068941 20211224 RGD in males;DNA:SNP: :rs370348(human) PMID:21771723|REF_RGD_ID:150530643 12040748 CLPTM1L CLPTM1 like gene DOID:1324 lung cancer susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNPs:: rs402710,rs451360 (human) PMID:25526467|REF_RGD_ID:150530494 12040748 CLPTM1L CLPTM1 like gene DOID:1324 lung cancer susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNPs::multiple (human) PMID:26852039|REF_RGD_ID:150530484 12040748 CLPTM1L CLPTM1 like gene DOID:1324 lung cancer susceptibility ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP:intron:rs31489(human) PMID:25422207|REF_RGD_ID:150530631 12040748 CLPTM1L CLPTM1 like gene DOID:1324 lung cancer susceptibility ISO RGD:1605932 D RGD:9068941 20211224 RGD associated with smoking; DNA:SNP:intron:rs31489(human) PMID:21622582|REF_RGD_ID:150530642 12040748 CLPTM1L CLPTM1 like gene DOID:2513 basal cell carcinoma ISO RGD:1605932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19151717 12040748 CLPTM1L CLPTM1 like gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1605932 D RGD:9068941 20211217 RGD mRNA:increased expression:esophagus PMID:25480402|REF_RGD_ID:150530497 12040748 CLPTM1L CLPTM1 like gene DOID:3748 esophagus squamous cell carcinoma no_association ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP: :rs401681(human) PMID:24386361|REF_RGD_ID:150537098 12040748 CLPTM1L CLPTM1 like gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP: :rs401681(human) PMID:25007268|REF_RGD_ID:150530488 12040748 CLPTM1L CLPTM1 like gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP: :rs451360(human) PMID:26716642|REF_RGD_ID:11572962 12040748 CLPTM1L CLPTM1 like gene DOID:3907 lung squamous cell carcinoma ISO RGD:1605932 D RGD:9068941 20211217 RGD mRNA:increased expression:lung PMID:24366883|REF_RGD_ID:150530483 12040748 CLPTM1L CLPTM1 like gene DOID:3907 lung squamous cell carcinoma no_association ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP::rs401681(human) PMID:24861918|REF_RGD_ID:150530499 12040748 CLPTM1L CLPTM1 like gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP:: rs31490(human) PMID:23908149|REF_RGD_ID:150530498 12040748 CLPTM1L CLPTM1 like gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP: :rs401681(human) PMID:24386361|REF_RGD_ID:150537098 12040748 CLPTM1L CLPTM1 like gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22675468 12040748 CLPTM1L CLPTM1 like gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNPs: :rs4975616,rs401681(human) PMID:24679952|REF_RGD_ID:150530644 12040748 CLPTM1L CLPTM1 like gene DOID:3908 lung non-small cell carcinoma no_association ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNPs:: rs401681,rs4975616(human) PMID:24175795|REF_RGD_ID:150530500 12040748 CLPTM1L CLPTM1 like gene DOID:3908 lung non-small cell carcinoma no_association ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP: :rs31490(human) PMID:27982019|REF_RGD_ID:150530632 12040748 CLPTM1L CLPTM1 like gene DOID:3910 lung adenocarcinoma ISO RGD:1605932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22675468 12040748 CLPTM1L CLPTM1 like gene DOID:3910 lung adenocarcinoma ISO RGD:1605932 D RGD:9068941 20211217 RGD mRNA:increased expression:lung PMID:24366883|REF_RGD_ID:150530483 12040748 CLPTM1L CLPTM1 like gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1605932 D RGD:9068941 20211217 RGD PMID:24366883|REF_RGD_ID:150530483 12040748 CLPTM1L CLPTM1 like gene DOID:3910 lung adenocarcinoma no_association ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP::rs401681(human) PMID:24861918|REF_RGD_ID:150530499 12040748 CLPTM1L CLPTM1 like gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP:: rs31490(human) PMID:23908149|REF_RGD_ID:150530498 12040748 CLPTM1L CLPTM1 like gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP:: rs4975616(human) PMID:19955392|REF_RGD_ID:150530502 12040748 CLPTM1L CLPTM1 like gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP: :rs401681(human) PMID:23738012|PMID:24386361|REF_RGD_ID:150530485|REF_RGD_ID:150537098 12040748 CLPTM1L CLPTM1 like gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP::rs77518573(human) PMID:31935503|REF_RGD_ID:150530635 12040748 CLPTM1L CLPTM1 like gene DOID:4948 gallbladder carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP, haplotype: :rs401681(human) PMID:29450669|REF_RGD_ID:150530629 12040748 CLPTM1L CLPTM1 like gene DOID:630 genetic disease ISO RGD:1605932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040748 CLPTM1L CLPTM1 like gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP: :rs401681(human) PMID:29042796|REF_RGD_ID:150537100 12040748 CLPTM1L CLPTM1 like gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNPs::rs401681(human) PMID:25339005|REF_RGD_ID:150530496 12040748 CLPTM1L CLPTM1 like gene DOID:9000081 Lymphatic Metastasis ISO RGD:1605932 D RGD:9068941 20211217 RGD associated with esophagus squamous cell carcinoma; mRNA:increased expression:esophagus PMID:25480402|REF_RGD_ID:150530497 12040748 CLPTM1L CLPTM1 like gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19151717 12040748 CLPTM1L CLPTM1 like gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1605932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19151717 12040748 CLPTM1L CLPTM1 like gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1605932 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 12040748 CLPTM1L CLPTM1 like gene DOID:9005172 Lung Neoplasms ISO RGD:1605932 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:18978787|PMID:19151717|PMID:23433592|PMID:24366883 12040748 CLPTM1L CLPTM1 like gene DOID:9007364 Mouth Neoplasms ISO RGD:1605932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27749845 12040748 CLPTM1L CLPTM1 like gene DOID:9261 nasopharynx carcinoma ISO RGD:1605932 D RGD:9068941 20211217 RGD protein:increased expression:nasopharynx PMID:26621837|REF_RGD_ID:11564613 12040748 CLPTM1L CLPTM1 like gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP: :rs401681(human) PMID:26621837|REF_RGD_ID:11564613 12040748 CLPTM1L CLPTM1 like gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP:intron:rs31489(human) PMID:26545403|REF_RGD_ID:11556976 12040748 CLPTM1L CLPTM1 like gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP:intron:rs31489(human) PMID:31270100|REF_RGD_ID:150537099 12040748 CLPTM1L CLPTM1 like gene DOID:9675 pulmonary emphysema severity ISO RGD:1605932 D RGD:9068941 20211224 RGD associated with smoking; DNA:SNP:intron:rs31489(human) PMID:21622582|REF_RGD_ID:150530642 12040773 ABHD6 abhydrolase domain containing 6, acylglycerol lipase gene DOID:630 genetic disease ISO RGD:1351429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040773 ABHD6 abhydrolase domain containing 6, acylglycerol lipase gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1351429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 12040803 ACTR3 actin related protein 3 gene DOID:0080199 colorectal carcinoma severity ISO RGD:736322 D RGD:9068941 20200609 RGD protein:increased expression:colonic mucosa (human) PMID:14990971|REF_RGD_ID:11570560 12040803 ACTR3 actin related protein 3 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:71024 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L111F (rat) PMID:18064521|REF_RGD_ID:2292230 12040803 ACTR3 actin related protein 3 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:71024 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus (rat) PMID:27251563|REF_RGD_ID:11575049 12040803 ACTR3 actin related protein 3 gene DOID:13768 opisthorchiasis ISO RGD:736322 D RGD:9068941 20200609 RGD PMID:25809205|REF_RGD_ID:11570559 12040803 ACTR3 actin related protein 3 gene DOID:3068 glioblastoma ISO RGD:736322 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (human) PMID:25682201|REF_RGD_ID:11570557 12040803 ACTR3 actin related protein 3 gene DOID:4948 gallbladder carcinoma severity ISO RGD:736322 D RGD:9068941 20200609 RGD Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human) PMID:23320827|REF_RGD_ID:11571623 12040803 ACTR3 actin related protein 3 gene DOID:5419 schizophrenia ISO RGD:71024 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex (rat) PMID:23942359|REF_RGD_ID:11571618 12040803 ACTR3 actin related protein 3 gene DOID:5419 schizophrenia ISO RGD:736322 D RGD:9068941 20200609 RGD protein:altered expression:anterior cingulate cortex (human) PMID:16491132|REF_RGD_ID:11571621 12040803 ACTR3 actin related protein 3 gene DOID:630 genetic disease ISO RGD:736322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040803 ACTR3 actin related protein 3 gene DOID:9002775 Cognitive Dysfunction ISO RGD:71024 D RGD:9068941 20200609 RGD protein:altered localization:hippocampus (rat) PMID:24069387|REF_RGD_ID:9999367 12040803 ACTR3 actin related protein 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736322 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12040819 TMX2 thioredoxin related transmembrane protein 2 gene DOID:1059 intellectual disability ISO RGD:1603042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12040819 TMX2 thioredoxin related transmembrane protein 2 gene DOID:630 genetic disease ISO RGD:1603042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040819 TMX2 thioredoxin related transmembrane protein 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1603042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:31586943|PMID:31735293 12040819 TMX2 thioredoxin related transmembrane protein 2 gene DOID:9006716 Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity ISO RGD:1603042 D RGD:7240710 20200226 OMIM 12040819 TMX2 thioredoxin related transmembrane protein 2 gene DOID:9006716 Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity ISO RGD:1603042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity PMID:25741868|PMID:31586943|PMID:31735293 12040832 ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif 15 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1320284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12040832 ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif 15 gene DOID:5419 schizophrenia ISO RGD:1320284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12040832 ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif 15 gene DOID:630 genetic disease ISO RGD:1320284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040832 ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif 15 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1320284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12040832 ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12040832 ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif 15 gene DOID:9007661 Dwarfism ISO RGD:1320284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12040844 GAS2L3 growth arrest specific 2 like 3 gene DOID:0080600 COVID-19 ISO RGD:1315710 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12040844 GAS2L3 growth arrest specific 2 like 3 gene DOID:630 genetic disease ISO RGD:1315710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040864 SAP30 Sin3A associated protein 30 gene DOID:0080600 COVID-19 ISO RGD:1354225 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12040864 SAP30 Sin3A associated protein 30 gene DOID:630 genetic disease ISO RGD:1354225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040864 SAP30 Sin3A associated protein 30 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12040871 CT47C1 cancer/testis antigen family 47 member C1 gene DOID:12849 autistic disorder ISO RGD:38600130 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12040878 MTFR1 mitochondrial fission regulator 1 gene DOID:630 genetic disease ISO RGD:1605712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040903 RGS14 regulator of G protein signaling 14 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:733515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12040903 RGS14 regulator of G protein signaling 14 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:733515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12040903 RGS14 regulator of G protein signaling 14 gene DOID:0112103 Sotos syndrome 1 ISO RGD:733515 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 12040903 RGS14 regulator of G protein signaling 14 gene DOID:585 nephrolithiasis ISO RGD:733515 D RGD:9068941 20200609 RGD DNA:SNP: :rs11746443 (human) PMID:22396660|REF_RGD_ID:7242927 12040903 RGS14 regulator of G protein signaling 14 gene DOID:630 genetic disease ISO RGD:733515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040903 RGS14 regulator of G protein signaling 14 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:733515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12040903 RGS14 regulator of G protein signaling 14 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:733515 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 12040930 ADAM7 ADAM metallopeptidase domain 7 gene DOID:5223 infertility ISO RGD:62324 D RGD:9068941 20200609 RGD PMID:26246218|REF_RGD_ID:13831360 12040930 ADAM7 ADAM metallopeptidase domain 7 gene DOID:630 genetic disease ISO RGD:736113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12040972 RPS15A ribosomal protein S15a gene DOID:0111891 Diamond-Blackfan anemia 20 ISO RGD:735975 D RGD:7240710 20190315 OMIM 12040972 RPS15A ribosomal protein S15a gene DOID:0111891 Diamond-Blackfan anemia 20 ISO RGD:735975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 20 PMID:27909223 12041006 FAN1 FANCD2 and FANCI associated nuclease 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1604829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:19050728|PMID:19289393|PMID:21844811|PMID:23044707|PMID:25255310|PMID:25741868|PMID:27569545 12041006 FAN1 FANCD2 and FANCI associated nuclease 1 gene DOID:0060394 chromosome 15q13.3 microdeletion syndrome ISO RGD:1604829 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome PMID:31690835 12041006 FAN1 FANCD2 and FANCI associated nuclease 1 gene DOID:0060911 karyomegalic interstitial nephritis ISO RGD:1604829 D RGD:7240710 20180130 OMIM 12041006 FAN1 FANCD2 and FANCI associated nuclease 1 gene DOID:0060911 karyomegalic interstitial nephritis ISO RGD:1604829 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Karyomegalic interstitial nephritis PMID:16678356|PMID:17304531|PMID:20621605|PMID:22772369|PMID:25741868|PMID:27196444|PMID:28492532|PMID:29590070|PMID:30773290|PMID:32111193|PMID:32220227|PMID:7847351|PMID:8546134 12041006 FAN1 FANCD2 and FANCI associated nuclease 1 gene DOID:12849 autistic disorder ISO RGD:1604829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12041006 FAN1 FANCD2 and FANCI associated nuclease 1 gene DOID:5419 schizophrenia ISO RGD:1604829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12041006 FAN1 FANCD2 and FANCI associated nuclease 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1604829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 12041006 FAN1 FANCD2 and FANCI associated nuclease 1 gene DOID:630 genetic disease ISO RGD:1604829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12041006 FAN1 FANCD2 and FANCI associated nuclease 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12041006 FAN1 FANCD2 and FANCI associated nuclease 1 gene DOID:9004652 Megalocytic Interstitial Nephritis ISO RGD:1604829 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22772369 12041006 FAN1 FANCD2 and FANCI associated nuclease 1 gene DOID:9256 colorectal cancer ISO RGD:1604829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:0050117 disease by infectious agent ISO RGD:732184 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Recurrent infections PMID:28492532 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:0080162 lupus nephritis ISO RGD:732184 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:31182691 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:0080600 COVID-19 ISO RGD:732184 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:0111944 immunodeficiency 31B ISO RGD:732184 D RGD:7240710 20180130 OMIM 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:0111944 immunodeficiency 31B ISO RGD:732184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B | ClinVar Annotator: match by term: Mycobacterial and viral infections, susceptibility to, autosomal recessive PMID:12590259|PMID:16199547|PMID:16585605|PMID:17576681|PMID:19436109|PMID:20841510|PMID:21714643|PMID:21727188|PMID:22195034|PMID:22208278|PMID:22651901|PMID:22730530|PMID:22847544|PMID:23245795|PMID:23534974|PMID:23541320|PMID:23585529|PMID:23709754|PMID:24033266|PMID:24188975|PMID:24239102|PMID:24343863|PMID:25042743|PMID:25326637|PMID:25367169|PMID:25662309|PMID:25741868|PMID:26242301|PMID:26255980|PMID:26467763|PMID:26479788|PMID:26494717|PMID:26513235|PMID:26604104|PMID:26621323|PMID:26732859|PMID:26743090|PMID:26938784|PMID:26948078|PMID:27114460|PMID:27117246|PMID:27146670|PMID:27379765|PMID:27577878|PMID:27808400|PMID:28011069|PMID:28161409|PMID:28258222|PMID:28367431|PMID:28427548|PMID:28492532|PMID:28597685|PMID:28601685|PMID:28622416|PMID:28753426|PMID:28815025|PMID:28859974|PMID:29111217|PMID:29317535|PMID:30030262|PMID:30131873|PMID:30442829|PMID:31114772|PMID:31362757|PMID:31367980|PMID:31448411|PMID:31677808|PMID:31686315|PMID:32135276|PMID:32506361|PMID:32582194|PMID:32888943|PMID:33096415|PMID:33225392|PMID:33679782|PMID:34093558|PMID:34114647|PMID:9536098 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:0111945 immunodeficiency 31A ISO RGD:732184 D RGD:7240710 20180130 OMIM 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:0111945 immunodeficiency 31A ISO RGD:732184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency PMID:11452125|PMID:16934001|PMID:17576681|PMID:19436109|PMID:20841510|PMID:21714643|PMID:21727188|PMID:22195034|PMID:22208278|PMID:22573496|PMID:22847544|PMID:23541320|PMID:23709754|PMID:24033266|PMID:24343863|PMID:25367169|PMID:25741868|PMID:26242301|PMID:26255980|PMID:26494717|PMID:26513235|PMID:26604104|PMID:28161409|PMID:28258222|PMID:28427548|PMID:28492532|PMID:28815025|PMID:30030262|PMID:32135276|PMID:9536098 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:0111946 immunodeficiency 31C ISO RGD:732184 D RGD:7240710 20180130 OMIM 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:0111946 immunodeficiency 31C ISO RGD:732184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome PMID:21714643|PMID:21727188|PMID:22195034|PMID:22730530|PMID:22847544|PMID:23245795|PMID:23534974|PMID:23541320|PMID:23709754|PMID:24033266|PMID:24188975|PMID:24239102|PMID:24343863|PMID:25042743|PMID:25288569|PMID:25326637|PMID:25367169|PMID:25741868|PMID:26242301|PMID:26255980|PMID:26494717|PMID:26604104|PMID:26743090|PMID:27114460|PMID:27379765|PMID:27577878|PMID:28011069|PMID:28161409|PMID:28258222|PMID:28427548|PMID:28492532|PMID:28597685|PMID:28622416|PMID:28815025|PMID:30317461|PMID:30442829|PMID:31362757|PMID:31448411|PMID:32582194|PMID:33679782 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:12155 lymphocytic choriomeningitis exacerbates ISO RGD:732185 D RGD:9068941 20210326 RGD PMID:22496215|REF_RGD_ID:124715469 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:1612 breast cancer ISO RGD:732185 D RGD:9068941 20220825 MouseDO OMIM:114480 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:1612 breast cancer disease_progression ISO RGD:732184 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17868458|REF_RGD_ID:2291892 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:1883 hepatitis C ISO RGD:732184 D RGD:9068941 20210326 RGD protein:increased expression:liver PMID:26216956|REF_RGD_ID:11074283 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:2058 chronic mucocutaneous candidiasis ISO RGD:732184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic mucocutaneous candidiasis PMID:21714643|PMID:21727188|PMID:23541320|PMID:23709754|PMID:24033266|PMID:24343863|PMID:25741868|PMID:26255980|PMID:26494717|PMID:26604104|PMID:28161409|PMID:28427548|PMID:28492532|PMID:28815025 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:2154 nephroblastoma ISO RGD:732184 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:kidney PMID:16799645|REF_RGD_ID:2291893 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:234 colon adenocarcinoma ISO RGD:732184 D RGD:9068941 20220812 RGD DNA:SNPs:introns: (rs2280232, rs4327257) (human) PMID:22121102|REF_RGD_ID:153323313 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:732184 D RGD:9068941 20200609 RGD protein:increased activity:prostate PMID:9748134|REF_RGD_ID:2290484 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:732185 D RGD:9068941 20220825 MouseDO 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:3314 angiomyolipoma ISO RGD:732184 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:kidney PMID:15994429|REF_RGD_ID:2298537 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:732184 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:lung PMID:15994429|REF_RGD_ID:2298537 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:3459 breast carcinoma disease_progression ISO RGD:732184 D RGD:9068941 20200609 RGD protein:increased activity:breast PMID:12374673|REF_RGD_ID:2291894 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:732184 D RGD:9068941 20220729 RGD mRNA:increased expression:stomach (human) PMID:33042401|REF_RGD_ID:153298934 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:3770 pulmonary fibrosis ISO RGD:3771 D RGD:9068941 20200609 RGD PMID:16806015|REF_RGD_ID:1600092 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:4074 pancreatic adenocarcinoma ameliorates ISO RGD:732184 D RGD:9068941 20221027 RGD protein:increased expression:pancreas (human) PMID:24658320|REF_RGD_ID:155630608 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:5082 liver cirrhosis ISO RGD:732184 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17133483 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:5434 scrapie ISO RGD:732185 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17897356|REF_RGD_ID:6483034 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:732184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23471820 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:612 primary immunodeficiency disease ISO RGD:732184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:21727188|PMID:22730530|PMID:23534974|PMID:23541320|PMID:23709754|PMID:24239102|PMID:25042743|PMID:25741868|PMID:26604104|PMID:26743090|PMID:27379765|PMID:27577878|PMID:28492532|PMID:28597685 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:630 genetic disease ISO RGD:732184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24343863|PMID:26479788|PMID:27114460|PMID:28492532|PMID:28753426|PMID:30030262 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22488367 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:7148 rheumatoid arthritis ISO RGD:732184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:824 periodontitis treatment ISO RGD:732185 D RGD:9068941 20200609 RGD PMID:26825585|REF_RGD_ID:18936995 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:9000918 Disease Progression ISO RGD:732184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22488367 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29147627 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:9000998 Brain Injuries ISO RGD:3771 D RGD:9068941 20200609 RGD PMID:21596098|REF_RGD_ID:6483023 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:9001276 Failure to Thrive ISO RGD:732184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:22730530|PMID:23534974|PMID:23541320|PMID:23709754|PMID:24239102|PMID:25042743|PMID:25741868|PMID:26604104|PMID:26743090|PMID:27379765|PMID:27577878|PMID:28492532|PMID:28597685 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:9001415 Mycobacterium Infections ISO RGD:732184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11452125 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:9001488 Human Influenza ISO RGD:732184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:9002457 Experimental Arthritis ISO RGD:3771 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:macrophage, synovial cell PMID:14674010|REF_RGD_ID:1582346 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:9002457 Experimental Arthritis ISO RGD:732184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15188379 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:732185 D RGD:9068941 20200609 RGD PMID:22066025|REF_RGD_ID:6483041 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:9004009 Reperfusion Injury ISO RGD:3771 D RGD:9068941 20200609 RGD protein:increased phosphorylation:kidney PMID:17670769|REF_RGD_ID:2291900 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:9004009 Reperfusion Injury ISO RGD:3771 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:brain PMID:15262323|REF_RGD_ID:1600103 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:9004484 Sepsis ISO RGD:3771 D RGD:9068941 20200609 RGD protein:increased activity:liver, lung, small intestine PMID:17067487|REF_RGD_ID:2291905 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:9004538 Hearing Loss ISO RGD:732184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20712533 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:732184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Dominant 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:9004729 Nontuberculous Mycobacterium Infections susceptibility ISO RGD:732184 D RGD:9068941 20200609 RGD DNA:transition: ; 2116T>C PMID:11452125|REF_RGD_ID:1600087 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732185 D RGD:9068941 20200609 RGD PMID:11325527|REF_RGD_ID:2291895 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3771 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:glomerulus PMID:14678947|REF_RGD_ID:1600105 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:9006062 Nervous System Trauma ISO RGD:3771 D RGD:9068941 20200609 RGD protein:increased phosphorylation:ganglion PMID:17097800|REF_RGD_ID:1600090 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:732184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16688530 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:9006487 Reoviridae Infections ISO RGD:732185 D RGD:9068941 20200609 RGD PMID:17849321|REF_RGD_ID:6483036 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:9007661 Dwarfism ISO RGD:732184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:22730530|PMID:23534974|PMID:23541320|PMID:23709754|PMID:24239102|PMID:25042743|PMID:25741868|PMID:26604104|PMID:26743090|PMID:27379765|PMID:27577878|PMID:28492532|PMID:28597685 12041039 STAT1 signal transducer and activator of transcription 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3771 D RGD:9068941 20200609 RGD protein:increased phosphorylation:heart PMID:16935931|REF_RGD_ID:1600091 12041074 MRGPRX2 MAS related GPR family member X2 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1603280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 12041074 MRGPRX2 MAS related GPR family member X2 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1603280 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 12041074 MRGPRX2 MAS related GPR family member X2 gene DOID:1059 intellectual disability ISO RGD:1603280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12041074 MRGPRX2 MAS related GPR family member X2 gene DOID:630 genetic disease ISO RGD:1603280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12041084 TSC22D2 TSC22 domain family member 2 gene DOID:0050579 glycogen storage disease XV ISO RGD:1602336 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 12041084 TSC22D2 TSC22 domain family member 2 gene DOID:630 genetic disease ISO RGD:1602336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12041092 NLE1 notchless homolog 1 gene DOID:630 genetic disease ISO RGD:1604007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12041092 NLE1 notchless homolog 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:0070271 Lynch syndrome 1 ISO RGD:1313536 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:10479499|PMID:10480359|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15521988|PMID:15845562|PMID:15872200|PMID:15887099|PMID:16144131|PMID:16426742|PMID:16472587|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17029773|PMID:17312306|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:18768816|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19389263|PMID:19495563|PMID:19723918|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21376568|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23652311|PMID:23709753|PMID:23960188|PMID:23981578|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24790682|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25512458|PMID:25637381|PMID:25691505|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26837502|PMID:26845104|PMID:26895986|PMID:26898890|PMID:27017610|PMID:27037742|PMID:27064304|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27589204|PMID:27601186|PMID:27806231|PMID:27863258|PMID:27930734|PMID:27978560|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29946849|PMID:30013564|PMID:30113427|PMID:30155321|PMID:30256826|PMID:30322717|PMID:30337059|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30702970|PMID:30760869|PMID:30809968|PMID:31159747|PMID:31269945|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31742824|PMID:31857677|PMID:31948886|PMID:31992580|PMID:32060697|PMID:32068069|PMID:32571878|PMID:32634176|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:33120919|PMID:33258288|PMID:33259954|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33693762|PMID:34271781|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35535697|PMID:36073783|PMID:36647049|PMID:36988593|PMID:7628019|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:0070275 hereditary nonpolyposis colorectal cancer type 4 ISO RGD:1313536 D RGD:7240710 20180130 OMIM 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:0070275 hereditary nonpolyposis colorectal cancer type 4 ISO RGD:1313536 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 4 PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15955779|PMID:16144131|PMID:16199547|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17312306|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18602922|PMID:18619468|PMID:18768816|PMID:18824584|PMID:19039682|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22608206|PMID:22658618|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23612316|PMID:23652311|PMID:23709753|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25648859|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26811195|PMID:26837502|PMID:26845104|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28050010|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29478780|PMID:29570743|PMID:29625052|PMID:29684080|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30192042|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:0070275 hereditary nonpolyposis colorectal cancer type 4 ISO RGD:1313536 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 4 PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31512090|PMID:31589614|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31742824|PMID:31780696|PMID:31857677|PMID:31874108|PMID:31883735|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32283892|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33359728|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34178123|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34371384|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:36647049|PMID:36988593|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:0110477 autosomal recessive nonsyndromic deafness 2 ISO RGD:1313536 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 2 PMID:22949387|PMID:25980754|PMID:26467025|PMID:27863258|PMID:28492532|PMID:33471991 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1313536 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Constitutional mismatch repair deficiency syndrome | ClinVar Annotator: match by term: Turcot syndrome PMID:10037723|PMID:11574484|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15955779|PMID:16144131|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17557300|PMID:17576681|PMID:18007577|PMID:18273873|PMID:18602922|PMID:18824584|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19495563|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21618646|PMID:22081473|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22658618|PMID:22703879|PMID:22848017|PMID:22918162|PMID:22949387|PMID:23012243|PMID:23435383|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24326041|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26845104|PMID:26895986|PMID:26898890|PMID:26976419|PMID:27017610|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27356891|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27476653|PMID:27535533|PMID:27589204|PMID:27601186|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28218421|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28724667|PMID:28726808|PMID:28805995|PMID:28873162|PMID:28874130|PMID:29489754|PMID:29570743|PMID:29625052|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30077346|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30256826|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30447919|PMID:30521064|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30702970|PMID:30760869|PMID:30764633|PMID:30787465|PMID:31056861|PMID:31159747|PMID:31327751|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31507588|PMID:31589614|PMID:31599855|PMID:31857677|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32571878|PMID:32634176|PMID:32658311|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32885271|PMID:33087929|PMID:33120919|PMID:33258288|PMID:33259954|PMID:33471991|PMID:33504652|PMID:33693762|PMID:34048176|PMID:34271781|PMID:34285288|PMID:34371384|PMID:35089076|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:35886069|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:9488480|PMID:9536098|PMID:9683794 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:10283 prostate cancer disease_progression ISO RGD:1313536 D RGD:9068941 20200609 RGD PMID:19124481|REF_RGD_ID:2315026 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:10534 stomach cancer ISO RGD:1313536 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:12714694|PMID:15077197|PMID:15845562|PMID:16199547|PMID:16426742|PMID:18602922|PMID:19495563|PMID:1992580|PMID:20205264|PMID:20487569|PMID:21261604|PMID:21376568|PMID:22918162|PMID:23012243|PMID:23709753|PMID:24033266|PMID:24362816|PMID:24440087|PMID:25430799|PMID:25477341|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25850602|PMID:25856668|PMID:26110232|PMID:26247049|PMID:26270727|PMID:26318770|PMID:26467025|PMID:26681312|PMID:26720728|PMID:26895986|PMID:26898890|PMID:27273229|PMID:27476653|PMID:27589204|PMID:28449805|PMID:28492532|PMID:28514183|PMID:28640387|PMID:28724667|PMID:28975465|PMID:29625052|PMID:29667044|PMID:30256826|PMID:30376427|PMID:30521064|PMID:31056861|PMID:31101557|PMID:31992580|PMID:32012241|PMID:32885271|PMID:34178123|PMID:34285288|PMID:36647049|PMID:36988593|PMID:7632227|PMID:7661930|PMID:9488480 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:1313536 D RGD:9068941 20200609 RGD DNA:SNP: :rs6463524 (human) PMID:19692168|REF_RGD_ID:2315025 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:1520 colon carcinoma ISO RGD:1313536 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10037723|PMID:10480359|PMID:11574484|PMID:11793469|PMID:12900794|PMID:15470502|PMID:16199547|PMID:16338176|PMID:16472587|PMID:16619239|PMID:17016615|PMID:17557300|PMID:17576681|PMID:18602922|PMID:18768816|PMID:19132747|PMID:19389263|PMID:20186688|PMID:20205264|PMID:20533529|PMID:21239990|PMID:21376568|PMID:21618646|PMID:22290698|PMID:22608206|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23709753|PMID:2402700|PMID:24027009|PMID:24362816|PMID:24728327|PMID:25194673|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25741868|PMID:25856668|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26333163|PMID:26467025|PMID:26689913|PMID:26845104|PMID:26976419|PMID:27082517|PMID:27376475|PMID:27435373|PMID:27930734|PMID:28135145|PMID:28166811|PMID:28218421|PMID:28466842|PMID:28492532|PMID:28502729|PMID:29300386|PMID:29478780|PMID:30103829|PMID:30374176|PMID:31159747|PMID:31336956|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31512090|PMID:31650731|PMID:31857677|PMID:31992580|PMID:32547938|PMID:32658311|PMID:32832836|PMID:33471991|PMID:9536098|PMID:9683794 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:1612 breast cancer ISO RGD:1313536 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:17576681|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30521064|PMID:30651582|PMID:30702970|PMID:31056861|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31433215|PMID:31741177|PMID:31784482|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32628757|PMID:32658311|PMID:32809219|PMID:32832836|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34250417|PMID:34284872|PMID:34285288|PMID:34371384|PMID:35189042|PMID:36988593|PMID:9536098 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:219 colon cancer ISO RGD:1313536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:25741868 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:2394 ovarian cancer ISO RGD:1313536 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:10479499|PMID:10480359|PMID:15077197|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:22086678|PMID:22290698|PMID:22703879|PMID:24027009|PMID:24072394|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25479140|PMID:25503501|PMID:25741868|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26798439|PMID:26845104|PMID:26900293|PMID:27028851|PMID:27356891|PMID:27435373|PMID:27601186|PMID:27616075|PMID:27720647|PMID:27930734|PMID:28135145|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28528518|PMID:28874130|PMID:29570743|PMID:29684080|PMID:30093976|PMID:30122538|PMID:30166348|PMID:30521064|PMID:31269945|PMID:31391288|PMID:31742824|PMID:31830689|PMID:31921681|PMID:32068069|PMID:32566746|PMID:32661327|PMID:32832836|PMID:32914570|PMID:32980694|PMID:33413596|PMID:33471991|PMID:34350294|PMID:36200007 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:2394 ovarian cancer disease_progression ISO RGD:1313536 D RGD:9068941 20200609 RGD DNA:SNP: :rs2228006 (human) PMID:18723338|REF_RGD_ID:2315028 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:2871 endometrial carcinoma ISO RGD:1313536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10479499|PMID:10480359|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:15872200|PMID:16144131|PMID:16199547|PMID:16472587|PMID:16619239|PMID:17139668|PMID:17557300|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18602922|PMID:18768816|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22577899|PMID:22703879|PMID:22875147|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23435383|PMID:23709753|PMID:23981578|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24130102|PMID:24326041|PMID:24362816|PMID:24434690|PMID:24440087|PMID:24556621|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25503501|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26272126|PMID:26318770|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26811195|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26921362|PMID:27001570|PMID:27050224|PMID:27203213|PMID:27379089|PMID:27433846|PMID:27435373|PMID:27476653|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28449805|PMID:28492532|PMID:28528518|PMID:28596308|PMID:28873162|PMID:28975465|PMID:29333623|PMID:29345684|PMID:29570743|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29887214|PMID:30013564|PMID:30322717|PMID:30608896|PMID:30612635|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:31159747|PMID:31300551|PMID:31327751|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31948886|PMID:31992580|PMID:32060697|PMID:32547938|PMID:32571878|PMID:32634176|PMID:32719484|PMID:33258288|PMID:33471991|PMID:33504652|PMID:34371384|PMID:35535697|PMID:7628019|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9683794 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:3247 rhabdomyosarcoma ISO RGD:1313536 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:10037723|PMID:15077197|PMID:16507833|PMID:18602922|PMID:18824584|PMID:19092773|PMID:20205264|PMID:20581245|PMID:21356188|PMID:21618646|PMID:23012243|PMID:2440087|PMID:25512458|PMID:25525159|PMID:26110232|PMID:26895986|PMID:27435373|PMID:28492532|PMID:28805995|PMID:31433215|PMID:32773772|PMID:34048176|PMID:7629132 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:3459 breast carcinoma ISO RGD:1313536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:16199547|PMID:21376568|PMID:24362816|PMID:25741868|PMID:28492532 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17851451|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:22406018|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33646313|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:34465341|PMID:34667028|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:36091175|PMID:36200007|PMID:36647049|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:4916 pituitary carcinoma ISO RGD:1313536 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pituitary carcinoma PMID:15256438|PMID:16144131|PMID:16619239|PMID:17557300|PMID:18273873|PMID:18602922|PMID:19156169|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22577899|PMID:22949387|PMID:23709753|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24897087|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25637381|PMID:25741868|PMID:25871621|PMID:26116798|PMID:26318770|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26845104|PMID:27433846|PMID:27435373|PMID:27806231|PMID:27863258|PMID:28125078|PMID:28152038|PMID:28449805|PMID:28492532|PMID:28528518|PMID:28596308|PMID:29875428|PMID:30013564|PMID:30612635|PMID:30702970|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31948886|PMID:31992580|PMID:32060697|PMID:32571878|PMID:32634176|PMID:32719484|PMID:33258288|PMID:33504652|PMID:35535697|PMID:7628019 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313536 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17557300|PMID:17567544|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23709753|PMID:23837913|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29570743|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33258288|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33821390|PMID:33850299|PMID:34271781|PMID:34284872|PMID:34371384|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:7628019|PMID:9419979|PMID:9683794 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:684 hepatocellular carcinoma ISO RGD:1313536 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17717427 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9001492 Lowry Maclean syndrome ISO RGD:1313536 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lowry-MacLean syndrome | ClinVar Annotator: match by term: Mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure PMID:22949387|PMID:23499907|PMID:25186627|PMID:25741868|PMID:26320870|PMID:26423401|PMID:28492532|PMID:28767177 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9001515 Angioma Serpiginosum, Autosomal Dominant ISO RGD:1313536 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angioma serpiginosum, autosomal dominant PMID:25741868|PMID:28492532 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1313536 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:16144131|PMID:16283678|PMID:18602922|PMID:19283792|PMID:20205264|PMID:21239990|PMID:21376568|PMID:22658618|PMID:23012243|PMID:24033266|PMID:24362816|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26895986|PMID:28492532|PMID:29489754|PMID:6144131 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9002089 Tumor Predisposition Syndrome 1 ISO RGD:1313536 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 PMID:25318351|PMID:25741868|PMID:28492532|PMID:31386297 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9002453 Cafe-au-Lait Spots ISO RGD:1313536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15077197 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9002762 Ovarian Neoplasms ISO RGD:1313536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:10480359|PMID:15256438|PMID:16472587|PMID:19132747|PMID:19526325|PMID:20205264|PMID:22703879|PMID:23709753|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:1313536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15077197 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9002928 Colonic Neoplasms ISO RGD:1313536 D RGD:9068941 20200609 RGD PMID:10763829|REF_RGD_ID:1599141 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9003685 Mismatch Repair Cancer Syndrome 4 ISO RGD:1313536 D RGD:7240710 20201202 OMIM 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9003685 Mismatch Repair Cancer Syndrome 4 ISO RGD:1313536 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mismatch repair cancer syndrome 4 PMID:10037723|PMID:10763829|PMID:12208142|PMID:12714694|PMID:14574005|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15845562|PMID:16144131|PMID:16199547|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16619239|PMID:17557300|PMID:17576681|PMID:18030674|PMID:18268114|PMID:18273873|PMID:18602922|PMID:18824584|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19293170|PMID:19495563|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20581245|PMID:20587412|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:22577899|PMID:22608206|PMID:22703879|PMID:22949387|PMID:23012243|PMID:23709753|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24362816|PMID:2440087|PMID:24440087|PMID:24689082|PMID:24728327|PMID:24763289|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25345868|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25637381|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26202870|PMID:26247049|PMID:26270727|PMID:26318770|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26681312|PMID:26720728|PMID:26845104|PMID:26895986|PMID:27064304|PMID:27082517|PMID:27376475|PMID:27433846|PMID:27435373|PMID:27498913|PMID:27696107|PMID:27806231|PMID:27863258|PMID:28125078|PMID:28152038|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28528518|PMID:28596308|PMID:28805995|PMID:28873162|PMID:29478780|PMID:29752822|PMID:29875428|PMID:30013564|PMID:30103829|PMID:30306255|PMID:30521064|PMID:30612635|PMID:30702970|PMID:30833958|PMID:31159747|PMID:31269945|PMID:31336956|PMID:31386297|PMID:31422818|PMID:31433215|PMID:31447099|PMID:31512090|PMID:31589614|PMID:31650731|PMID:31742824|PMID:31857677|PMID:31948886|PMID:31992580|PMID:32060697|PMID:32068069|PMID:32571878|PMID:32634176|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:33258288|PMID:33471991|PMID:33504652|PMID:34048176|PMID:35535697|PMID:36988593|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:8993976|PMID:9488480|PMID:9536098 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9003892 Mismatch Repair Cancer Syndrome 1 ISO RGD:1313536 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: BRAIN TUMOR-POLYPOSIS SYNDROME 1 | ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 PMID:10037723|PMID:11574484|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15955779|PMID:16144131|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17557300|PMID:18273873|PMID:18602922|PMID:18824584|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19495563|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20581245|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21618646|PMID:22081473|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22658618|PMID:22703879|PMID:22848017|PMID:22918162|PMID:22949387|PMID:23012243|PMID:23652311|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24728189|PMID:24728327|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26895986|PMID:26898890|PMID:26976419|PMID:27017610|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27476653|PMID:27535533|PMID:27589204|PMID:27601186|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28724667|PMID:28726808|PMID:28805995|PMID:28873162|PMID:28874130|PMID:29570743|PMID:29625052|PMID:29785153|PMID:29875428|PMID:29967336|PMID:30013564|PMID:30077346|PMID:30093976|PMID:30113427|PMID:30155321|PMID:30256826|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30447919|PMID:30521064|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30702970|PMID:30760869|PMID:30764633|PMID:30787465|PMID:31056861|PMID:31159747|PMID:31327751|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31589614|PMID:31857677|PMID:31883735|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32571878|PMID:32634176|PMID:32658311|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32885271|PMID:33087929|PMID:33120919|PMID:33258288|PMID:33259954|PMID:33471991|PMID:33504652|PMID:33693762|PMID:34048176|PMID:34271781|PMID:34285288|PMID:34371384|PMID:35089076|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:36988593|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:9488480|PMID:9683794 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9004271 Colonic Polyps ISO RGD:1313536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon polyps PMID:16199547|PMID:18602922|PMID:19132747|PMID:19479271|PMID:21376568|PMID:24027009|PMID:24033266|PMID:24362816|PMID:25186627|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26467025|PMID:26689913|PMID:27435373|PMID:28492532|PMID:28873162|PMID:28975465|PMID:29785153|PMID:30651582|PMID:30653781|PMID:31159747|PMID:31391288 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9006537 Supratentorial Neoplasms ISO RGD:1313536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15077197 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313536 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:11948175|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18709565|PMID:18768816|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20600922|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22204421|PMID:22290698|PMID:22295133|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22740367|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27806231|PMID:27820123|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313536 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29025590|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31822864|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33646313|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:36091175|PMID:36200007|PMID:36647049|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9007502 Brain Neoplasms ISO RGD:1313536 D RGD:9068941 20200609 RGD PMID:10763829|REF_RGD_ID:1599141 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9008939 Breast Neoplasms ISO RGD:1313536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:23709753|PMID:24033266|PMID:25741868|PMID:27146957|PMID:28466842|PMID:28492532 12041117 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9008952 Breast Cancer, Familial ISO RGD:1313536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532 12041160 RCOR3 REST corepressor 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1350848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12041160 RCOR3 REST corepressor 3 gene DOID:630 genetic disease ISO RGD:1350848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12041160 RCOR3 REST corepressor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12041183 NFYA nuclear transcription factor Y subunit alpha gene DOID:630 genetic disease ISO RGD:733450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12041183 NFYA nuclear transcription factor Y subunit alpha gene DOID:9005172 Lung Neoplasms ISO RGD:733450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16271038 12041222 SPAM1 sperm adhesion molecule 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12041222 SPAM1 sperm adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:1347791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12041236 KHDC3L KH domain containing 3 like, subcortical maternal complex member gene DOID:3659 sialuria ISO RGD:1604735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 12041236 KHDC3L KH domain containing 3 like, subcortical maternal complex member gene DOID:630 genetic disease ISO RGD:1604735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12041236 KHDC3L KH domain containing 3 like, subcortical maternal complex member gene DOID:9005147 Hydatidiform Mole ISO RGD:1604735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydatidiform mole PMID:25741868 12041236 KHDC3L KH domain containing 3 like, subcortical maternal complex member gene DOID:9006297 Hydatidiform Mole, Recurrent, 2 ISO RGD:1604735 D RGD:7240710 20180130 OMIM 12041236 KHDC3L KH domain containing 3 like, subcortical maternal complex member gene DOID:9006297 Hydatidiform Mole, Recurrent, 2 ISO RGD:1604735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 2 PMID:11932746|PMID:19246479|PMID:21623199|PMID:21885028|PMID:23125094|PMID:23232697|PMID:24033266 12041243 LYST lysosomal trafficking regulator gene DOID:0050117 disease by infectious agent ISO RGD:1604070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent infections 12041243 LYST lysosomal trafficking regulator gene DOID:0050952 spastic ataxia ISO RGD:1604070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 12041243 LYST lysosomal trafficking regulator gene DOID:0081013 severe COVID-19 ISO RGD:1604070 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to severe COVID-19 PMID:25741868|PMID:28492532 12041243 LYST lysosomal trafficking regulator gene DOID:13641 exfoliation syndrome ISO RGD:731450 D RGD:9068941 20220825 MouseDO OMIM:177650 12041243 LYST lysosomal trafficking regulator gene DOID:1540 parathyroid carcinoma ISO RGD:1604070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12041243 LYST lysosomal trafficking regulator gene DOID:1826 epilepsy ISO RGD:1604070 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12041243 LYST lysosomal trafficking regulator gene DOID:1891 optic nerve disease ISO RGD:1604070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic neuropathy PMID:25741868|PMID:28492532 12041243 LYST lysosomal trafficking regulator gene DOID:2213 hemorrhagic disease ISO RGD:1604070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532 12041243 LYST lysosomal trafficking regulator gene DOID:2223 platelet storage pool deficiency ISO RGD:731450 D RGD:9068941 20220825 MouseDO OMIM:185050 12041243 LYST lysosomal trafficking regulator gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1604070 D RGD:7240710 20180130 OMIM 12041243 LYST lysosomal trafficking regulator gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1604070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:10482950|PMID:10648412|PMID:11857544|PMID:15896657|PMID:16199547|PMID:17554367|PMID:17576681|PMID:18485661|PMID:20301751|PMID:21878672|PMID:22883044|PMID:23436631|PMID:24033266|PMID:24072239|PMID:24112114|PMID:25047945|PMID:25312756|PMID:25640679|PMID:25741868|PMID:26193622|PMID:26597256|PMID:26684649|PMID:26915675|PMID:27669550|PMID:27781387|PMID:27872624|PMID:28145517|PMID:28193763|PMID:28458669|PMID:28492532|PMID:28748566|PMID:29519750|PMID:30383631|PMID:30815890|PMID:30819905|PMID:30899265|PMID:31245861|PMID:31906877|PMID:32099069|PMID:32531373|PMID:32542393|PMID:32638196|PMID:33217554|PMID:34083498|PMID:8717042|PMID:8751863|PMID:8896560|PMID:9215679|PMID:9215680|PMID:9536098 12041243 LYST lysosomal trafficking regulator gene DOID:630 genetic disease ISO RGD:1604070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11857544|PMID:17576681|PMID:18485661|PMID:25741868|PMID:26684649|PMID:27872624|PMID:28492532|PMID:28748566|PMID:29519750|PMID:30819905|PMID:32099069|PMID:9215679|PMID:9536098 12041243 LYST lysosomal trafficking regulator gene DOID:9001488 Human Influenza ISO RGD:1604070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26597256 12041243 LYST lysosomal trafficking regulator gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12041300 ATG4C autophagy related 4C cysteine peptidase gene DOID:0080415 developmental and epileptic encephalopathy 23 ISO RGD:1317140 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 PMID:28492532 12041300 ATG4C autophagy related 4C cysteine peptidase gene DOID:1059 intellectual disability ISO RGD:1317140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12041300 ATG4C autophagy related 4C cysteine peptidase gene DOID:630 genetic disease ISO RGD:1317140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12041300 ATG4C autophagy related 4C cysteine peptidase gene DOID:8778 Crohn's disease ISO RGD:1317140 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 12041327 ACTN4 actinin alpha 4 gene DOID:0070044 Coffin-Siris syndrome 2 ISO RGD:735302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 PMID:16251236|PMID:18594871|PMID:19956976|PMID:21680739|PMID:22732337|PMID:25741868|PMID:26248470|PMID:26346198|PMID:26467025|PMID:27535533|PMID:28492532 12041327 ACTN4 actinin alpha 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:735302 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12041327 ACTN4 actinin alpha 4 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:735302 D RGD:7240710 20180221 OMIM 12041327 ACTN4 actinin alpha 4 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:735302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 PMID:10700177|PMID:16251236|PMID:18594871|PMID:19142020|PMID:19956976|PMID:21680739|PMID:22351778|PMID:22732337|PMID:23890478|PMID:24130771|PMID:25741868|PMID:26248470|PMID:26301083|PMID:26346198|PMID:26467025|PMID:26740551|PMID:27535533|PMID:28492532|PMID:29869118|PMID:30406062 12041327 ACTN4 actinin alpha 4 gene DOID:1184 nephrotic syndrome ISO RGD:735302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:28492532 12041327 ACTN4 actinin alpha 4 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:735302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:16251236|PMID:18594871|PMID:19142020|PMID:19956976|PMID:21680739|PMID:22732337|PMID:23890478|PMID:24130771|PMID:25741868|PMID:26248470|PMID:26346198|PMID:26467025|PMID:27535533|PMID:28492532|PMID:29869118 12041327 ACTN4 actinin alpha 4 gene DOID:1312 focal segmental glomerulosclerosis susceptibility ISO RGD:735302 D RGD:9068941 20200609 RGD PMID:10700177|REF_RGD_ID:1598731 12041327 ACTN4 actinin alpha 4 gene DOID:305 carcinoma ISO RGD:735302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12041327 ACTN4 actinin alpha 4 gene DOID:557 kidney disease ISO RGD:735302 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:19142020|PMID:25741868|PMID:26467025|PMID:28492532 12041327 ACTN4 actinin alpha 4 gene DOID:630 genetic disease ISO RGD:735302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12041327 ACTN4 actinin alpha 4 gene DOID:784 chronic kidney disease ISO RGD:735302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868 12041327 ACTN4 actinin alpha 4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12041327 ACTN4 actinin alpha 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12041327 ACTN4 actinin alpha 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12041327 ACTN4 actinin alpha 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735302 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12041369 RTF1 RTF1 homolog, Paf1/RNA polymerase II complex component gene DOID:2717 Bloom syndrome ISO RGD:1321684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12041369 RTF1 RTF1 homolog, Paf1/RNA polymerase II complex component gene DOID:630 genetic disease ISO RGD:1321684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12041369 RTF1 RTF1 homolog, Paf1/RNA polymerase II complex component gene DOID:9256 colorectal cancer ISO RGD:1321684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12041391 GSN gelsolin gene DOID:0050637 Finnish type amyloidosis ISO RGD:1346375 D RGD:7240710 20180130 OMIM 12041391 GSN gelsolin gene DOID:0050637 Finnish type amyloidosis ISO RGD:1346375 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Meretoja syndrome PMID:11754099|PMID:1311149|PMID:1315718|PMID:1322359|PMID:1322360|PMID:1338910|PMID:14640038|PMID:16199547|PMID:1652889|PMID:1658654|PMID:17576681|PMID:1849145|PMID:2175344|PMID:2176164|PMID:2176481|PMID:2176550|PMID:22622774|PMID:22938848|PMID:25342098|PMID:25601851|PMID:25741868|PMID:27982499|PMID:28492532|PMID:28924445|PMID:29069428|PMID:29167514|PMID:29637772|PMID:30625383|PMID:31243148|PMID:33598831|PMID:33973672|PMID:4543600|PMID:6610849|PMID:6975851|PMID:7550233|PMID:7868127|PMID:8388189|PMID:8395367|PMID:9536098 12041391 GSN gelsolin gene DOID:0060224 atrial fibrillation disease_progression ISO RGD:1550660 D RGD:9068941 20230427 RGD PMID:19669398|REF_RGD_ID:329333016 12041391 GSN gelsolin gene DOID:10591 pre-eclampsia disease_progression ISO RGD:1346375 D RGD:9068941 20230427 RGD protein:decreased expression:blood plasma (human) PMID:24239294|REF_RGD_ID:329337339 12041391 GSN gelsolin gene DOID:11476 osteoporosis ISO RGD:1346375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12041391 GSN gelsolin gene DOID:1459 hypothyroidism ISO RGD:1303089 D RGD:9068941 20200609 RGD Protein:increased expression:cochlea PMID:2848627|REF_RGD_ID:1599872 12041391 GSN gelsolin gene DOID:3525 middle cerebral artery infarction ISO RGD:1550660 D RGD:9068941 20230427 RGD PMID:18234195|REF_RGD_ID:329333031 12041391 GSN gelsolin gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:1550660 D RGD:9068941 20230427 RGD PMID:9927495|REF_RGD_ID:329333033 12041391 GSN gelsolin gene DOID:3526 cerebral infarction severity ISO RGD:1346375 D RGD:9068941 20230427 RGD protein:decreased expression:blood plasma (human) PMID:21481565|REF_RGD_ID:329337334 12041391 GSN gelsolin gene DOID:5844 myocardial infarction ISO RGD:1346375 D RGD:9068941 20230427 RGD protein:decreased expression:blood serum (human) PMID:9142022|REF_RGD_ID:329333022 12041391 GSN gelsolin gene DOID:5844 myocardial infarction ameliorates ISO RGD:1303089 D RGD:9068941 20230427 RGD PMID:28622474|REF_RGD_ID:329333030 12041391 GSN gelsolin gene DOID:60001 pulmonary artery disease severity ISO RGD:1550660 D RGD:9068941 20230427 RGD associated with ischemia PMID:12654637|REF_RGD_ID:329333024 12041391 GSN gelsolin gene DOID:630 genetic disease ISO RGD:1346375 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11754099|PMID:1311149|PMID:1315718|PMID:1322359|PMID:1322360|PMID:14640038|PMID:1652889|PMID:1658654|PMID:17576681|PMID:1848334|PMID:2153578|PMID:2175344|PMID:2176164|PMID:2176481|PMID:2176550|PMID:25601851|PMID:25741868|PMID:27982499|PMID:28166811|PMID:28492532|PMID:28924445|PMID:29167514|PMID:29637772|PMID:4543600|PMID:6610849|PMID:6975851|PMID:7550233|PMID:7868127|PMID:8388189|PMID:9536098 12041391 GSN gelsolin gene DOID:630 genetic disease ISO RGD:1346375 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11754099|PMID:1311149|PMID:1315718|PMID:1322359|PMID:1322360|PMID:1338910|PMID:14640038|PMID:16199547|PMID:1652889|PMID:1658654|PMID:17576681|PMID:1849145|PMID:2175344|PMID:2176164|PMID:2176481|PMID:2176550|PMID:22622774|PMID:25342098|PMID:25601851|PMID:25741868|PMID:27982499|PMID:28492532|PMID:28924445|PMID:29167514|PMID:29637772|PMID:33973672|PMID:4543600|PMID:6610849|PMID:6975851|PMID:7550233|PMID:7868127|PMID:8388189|PMID:8395367|PMID:9536098 12041391 GSN gelsolin gene DOID:8481 rheumatic myocarditis ISO RGD:1346375 D RGD:9068941 20230427 RGD protein:decreased expression:blood plasma (human) PMID:25403731|REF_RGD_ID:329333026 12041391 GSN gelsolin gene DOID:850 lung disease ISO RGD:1303089 D RGD:9068941 20200609 RGD Protein:increased expression:plasma PMID:2829631|REF_RGD_ID:1599873 12041391 GSN gelsolin gene DOID:9000438 Subarachnoid Hemorrhage disease_progression ISO RGD:1303089 D RGD:9068941 20230427 RGD mRNA, protein:altered expression:cerebral cortex (rat) PMID:25744577|REF_RGD_ID:11055426 12041391 GSN gelsolin gene DOID:9000438 Subarachnoid Hemorrhage severity ISO RGD:1346375 D RGD:9068941 20230427 RGD protein:decreased expression:blood plasma (human) PMID:23880145|REF_RGD_ID:329333027 12041391 GSN gelsolin gene DOID:9000815 Aortic Calcification disease_progression ISO RGD:1346375 D RGD:9068941 20230427 RGD protein:decreased expression:blood (human) PMID:26941566|REF_RGD_ID:329336117 12041391 GSN gelsolin gene DOID:9000895 Preterm Intraventricular Hemorrhage ISO RGD:1550660 D RGD:9068941 20230504 RGD protein:decreased expression:blood plasma (human) PMID:28755273|REF_RGD_ID:329337382 12041391 GSN gelsolin gene DOID:9000998 Brain Injuries ISO RGD:1303089 D RGD:9068941 20200609 RGD PMID:14588109|REF_RGD_ID:1599864 12041391 GSN gelsolin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1303089 D RGD:9068941 20200609 RGD mRNA, protein:increased expression PMID:14574581|REF_RGD_ID:1599866 12041391 GSN gelsolin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12041391 GSN gelsolin gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1346375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 12041391 GSN gelsolin gene DOID:9002599 Basal Ganglia Hemorrhage severity ISO RGD:1346375 D RGD:9068941 20230427 RGD protein:decreased expression:blood plasma (human) PMID:23142649|REF_RGD_ID:329333032 12041391 GSN gelsolin gene DOID:9003121 Thromboembolism ameliorates ISO RGD:1346375 D RGD:9068941 20230427 RGD human gene in mouse model PMID:31002695|REF_RGD_ID:329333020 12041391 GSN gelsolin gene DOID:9003565 Paratuberculosis ISO RGD:1346375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22633222 12041391 GSN gelsolin gene DOID:9003566 Mesothelioma ISO RGD:1346375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15920167 12041391 GSN gelsolin gene DOID:9003646 Arterial Thrombosis ameliorates ISO RGD:1346375 D RGD:9068941 20230427 RGD human gene in mouse model PMID:31002695|REF_RGD_ID:329333020 12041391 GSN gelsolin gene DOID:9003676 Brain Hypoxia-Ischemia severity ISO RGD:1346375 D RGD:9068941 20230427 RGD protein:decreased expression:blood plasma (human) PMID:29466895|REF_RGD_ID:329333029 12041391 GSN gelsolin gene DOID:9003936 Cardiomegaly ISO RGD:1346375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30240538 12041391 GSN gelsolin gene DOID:9003936 Cardiomegaly treatment ISO RGD:1303089 D RGD:9068941 20230427 RGD PMID:30240538|REF_RGD_ID:329333015 12041391 GSN gelsolin gene DOID:9004484 Sepsis ISO RGD:1346375 D RGD:9068941 20230427 RGD protein:decreased expression:blood serum (human) PMID:9142022|REF_RGD_ID:329333022 12041391 GSN gelsolin gene DOID:9004492 Familial Amyloidosis ISO RGD:1346375 D RGD:9068941 20200609 RGD DNA:point mutation: ;654G>A PMID:2175344|REF_RGD_ID:1599858 12041391 GSN gelsolin gene DOID:9004590 Acute Liver Failure ISO RGD:1346375 D RGD:9068941 20230427 RGD protein:decreased expression:blood serum (human) PMID:9142022|REF_RGD_ID:329333022 12041391 GSN gelsolin gene DOID:9004657 Weight Gain ISO RGD:1346375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12041391 GSN gelsolin gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1303089 D RGD:9068941 20200609 RGD mRNA:decreased expression PMID:8895730|REF_RGD_ID:1599869 12041391 GSN gelsolin gene DOID:9006646 Metabolic Syndrome severity ISO RGD:1550660 D RGD:9068941 20230427 RGD PMID:29684438|REF_RGD_ID:329333017 12041391 GSN gelsolin gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:1550660 D RGD:9068941 20230427 RGD PMID:19246681|REF_RGD_ID:329333014 12041391 GSN gelsolin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 12041391 GSN gelsolin gene DOID:9008652 Postoperative Atrial Fibrillation susceptibility ISO RGD:1346375 D RGD:9068941 20230504 RGD DNA:SNP:: (rs2230287) (human) PMID:27923400|REF_RGD_ID:329337380 12041391 GSN gelsolin gene DOID:9120 amyloidosis ISO RGD:1346375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyloidosis PMID:25741868|PMID:28492532 12041391 GSN gelsolin gene DOID:9159 gas gangrene ISO RGD:1346375 D RGD:9068941 20230427 RGD protein:decreased expression:blood serum (human) PMID:9142022|REF_RGD_ID:329333022 12041426 KCNA1 potassium voltage-gated channel subfamily A member 1 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1346938 D RGD:7240710 20180130 OMIM 12041426 KCNA1 potassium voltage-gated channel subfamily A member 1 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1346938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 | ClinVar Annotator: match by term: Myokymia 1 with hypomagnesemia | ClinVar Annotator: match by term: PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY PMID:10355668|PMID:11013453|PMID:11026449|PMID:11746627|PMID:12408867|PMID:15127317|PMID:15979945|PMID:16511644|PMID:17114047|PMID:19307729|PMID:19528245|PMID:19779067|PMID:20301785|PMID:21307345|PMID:21858020|PMID:2245301|PMID:22609616|PMID:23349320|PMID:25659636|PMID:25741868|PMID:26395884|PMID:26467025|PMID:26778656|PMID:27864847|PMID:28216637|PMID:28492532|PMID:28666963|PMID:29056246|PMID:29375859|PMID:29915382|PMID:30055040|PMID:30140249|PMID:32139178|PMID:32705822|PMID:34305802|PMID:7842011|PMID:8541859|PMID:8845167|PMID:9526001|PMID:9600245 12041426 KCNA1 potassium voltage-gated channel subfamily A member 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1346938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12041426 KCNA1 potassium voltage-gated channel subfamily A member 1 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1346938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:25741868|PMID:28492532|PMID:34305802 12041426 KCNA1 potassium voltage-gated channel subfamily A member 1 gene DOID:11832 visual epilepsy ISO RGD:2949 D RGD:9068941 20200609 RGD PMID:22206926|REF_RGD_ID:10047237 12041426 KCNA1 potassium voltage-gated channel subfamily A member 1 gene DOID:1826 epilepsy ISO RGD:1552897 D RGD:9068941 20220825 MouseDO 12041426 KCNA1 potassium voltage-gated channel subfamily A member 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:1552897 D RGD:9068941 20220825 MouseDO 12041426 KCNA1 potassium voltage-gated channel subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1346938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23349320|PMID:25741868|PMID:26467025|PMID:27864847|PMID:28216637|PMID:28492532|PMID:29056246|PMID:30055040|PMID:7842011|PMID:8845167|PMID:9526001 12041426 KCNA1 potassium voltage-gated channel subfamily A member 1 gene DOID:9001275 Familial Atrial Fibrillation 7 ISO RGD:1346938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 7 PMID:28492532 12041426 KCNA1 potassium voltage-gated channel subfamily A member 1 gene DOID:9001302 Myokymia 1 ISO RGD:1346938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myokymia 1 PMID:11026449|PMID:17136396|PMID:25741868 12041426 KCNA1 potassium voltage-gated channel subfamily A member 1 gene DOID:9002672 Generalized Epilepsy and Paroxysmal Dyskinesia ISO RGD:1346938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy PMID:25741868|PMID:34305802 12041426 KCNA1 potassium voltage-gated channel subfamily A member 1 gene DOID:9003935 Myokymia ISO RGD:1346938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myokymia PMID:25741868|PMID:26467025|PMID:28492532 12041426 KCNA1 potassium voltage-gated channel subfamily A member 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1346938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12041426 KCNA1 potassium voltage-gated channel subfamily A member 1 gene DOID:963 episodic ataxia ISO RGD:1346938 D RGD:8554872 20220628 ClinVar ClinVar Annotator: match by term: Hereditary episodic ataxia PMID:25741868|PMID:26467025|PMID:28492532 12041432 IL33 interleukin 33 gene DOID:0050256 angiostrongyliasis ISO RGD:1322462 D RGD:9068941 20201105 RGD PMID:24076431|REF_RGD_ID:40400715 12041432 IL33 interleukin 33 gene DOID:0050256 angiostrongyliasis ISO RGD:1322462 D RGD:9068941 20201105 RGD protein:increased expression:brain: PMID:23148283|REF_RGD_ID:40400713 12041432 IL33 interleukin 33 gene DOID:0050589 inflammatory bowel disease severity ISO RGD:1322461 D RGD:9068941 20201015 RGD PMID:24491821|REF_RGD_ID:39938952 12041432 IL33 interleukin 33 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:1322461 D RGD:9068941 20201016 RGD PMID:25193287|REF_RGD_ID:39938972 12041432 IL33 interleukin 33 gene DOID:0060180 colitis severity ISO RGD:1322461 D RGD:9068941 20201023 RGD PMID:28423665|REF_RGD_ID:39939041 12041432 IL33 interleukin 33 gene DOID:0060180 colitis severity ISO RGD:1322462 D RGD:9068941 20201030 RGD PMID:23172891|REF_RGD_ID:40400694 12041432 IL33 interleukin 33 gene DOID:0060185 Clostridium difficile colitis severity ISO RGD:1322462 D RGD:9068941 20201105 RGD PMID:32156806|REF_RGD_ID:40400894 12041432 IL33 interleukin 33 gene DOID:0060185 Clostridium difficile colitis treatment ISO RGD:1322462 D RGD:9068941 20201105 RGD PMID:32156806|REF_RGD_ID:40400894 12041432 IL33 interleukin 33 gene DOID:0060496 respiratory allergy treatment ISO RGD:1322462 D RGD:9068941 20201030 RGD PMID:25424936|REF_RGD_ID:40400692 12041432 IL33 interleukin 33 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1322461 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12041432 IL33 interleukin 33 gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ISO RGD:1322462 D RGD:9068941 20201030 RGD associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen: PMID:26518437|REF_RGD_ID:11343232 12041432 IL33 interleukin 33 gene DOID:10230 aortic atherosclerosis ISO RGD:1322461 D RGD:9068941 20230420 RGD protein:increased expression:artery: PMID:31043075|REF_RGD_ID:267986209 12041432 IL33 interleukin 33 gene DOID:10283 prostate cancer ISO RGD:1322461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12041432 IL33 interleukin 33 gene DOID:10459 common cold ISO RGD:1322461 D RGD:9068941 20201023 RGD protein:increased expression:nasal mucus PMID:28471975|REF_RGD_ID:38596342 12041432 IL33 interleukin 33 gene DOID:106 pleural tuberculosis ISO RGD:1322461 D RGD:9068941 20201023 RGD protein:increased expression:pleural fluid: PMID:23301222|REF_RGD_ID:39939042 12041432 IL33 interleukin 33 gene DOID:10652 Alzheimer's disease ISO RGD:1322462 D RGD:9068941 20220825 MouseDO OMIM:608907 12041432 IL33 interleukin 33 gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome severity ISO RGD:1322461 D RGD:9068941 20201105 RGD PMID:25658420|REF_RGD_ID:40400702 12041432 IL33 interleukin 33 gene DOID:11339 pneumocystosis treatment ISO RGD:1322462 D RGD:9068941 20201105 RGD PMID:21220696|REF_RGD_ID:40400892 12041432 IL33 interleukin 33 gene DOID:11396 pulmonary edema ISO RGD:1322461 D RGD:9068941 20201105 RGD associated with Plasmodium falciparum malaria;protein:increased expression:lung PMID:26437894|REF_RGD_ID:11342349 12041432 IL33 interleukin 33 gene DOID:11573 listeriosis treatment ISO RGD:1322462 D RGD:9068941 20201030 RGD PMID:25577440|REF_RGD_ID:40400693 12041432 IL33 interleukin 33 gene DOID:12053 cryptococcosis ISO RGD:1322462 D RGD:9068941 20200827 RGD mRNA:increased expression:lung (mouse) PMID:27596810|REF_RGD_ID:38549345 12041432 IL33 interleukin 33 gene DOID:12205 dengue disease severity ISO RGD:1322462 D RGD:9068941 20201015 RGD PMID:30098206|REF_RGD_ID:39938828 12041432 IL33 interleukin 33 gene DOID:12365 malaria ISO RGD:1322462 D RGD:9068941 20201015 RGD protein:increased expression:serum: PMID:28359899|REF_RGD_ID:39938859 12041432 IL33 interleukin 33 gene DOID:12662 paracoccidioidomycosis treatment ISO RGD:1322461 D RGD:9068941 20201015 RGD PMID:28992214|REF_RGD_ID:39938858 12041432 IL33 interleukin 33 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1322462 D RGD:9068941 20201105 RGD PMID:26044350|PMID:28771101|REF_RGD_ID:11342984|REF_RGD_ID:39939029 12041432 IL33 interleukin 33 gene DOID:13189 gout ISO RGD:1322461 D RGD:9068941 20201105 RGD PMID:30863362|REF_RGD_ID:40400717 12041432 IL33 interleukin 33 gene DOID:13767 clonorchiasis ISO RGD:1322461 D RGD:9068941 20201022 RGD protein:increased expression:serum: PMID:26944417|REF_RGD_ID:39939001 12041432 IL33 interleukin 33 gene DOID:13767 clonorchiasis ISO RGD:1322462 D RGD:9068941 20201022 RGD mRNA,protein:increased expression:liver, serum: PMID:26944417|REF_RGD_ID:39939001 12041432 IL33 interleukin 33 gene DOID:1395 schistosomiasis ISO RGD:1322462 D RGD:9068941 20201015 RGD mRNA,protein:increased expression:liver PMID:29554131|REF_RGD_ID:39938854 12041432 IL33 interleukin 33 gene DOID:14069 cerebral malaria ISO RGD:1322462 D RGD:9068941 20201105 RGD protein:increased expression:brain PMID:25682948|REF_RGD_ID:40400741 12041432 IL33 interleukin 33 gene DOID:14069 cerebral malaria treatment ISO RGD:1322462 D RGD:9068941 20201015 RGD PMID:25659095|REF_RGD_ID:39938955 12041432 IL33 interleukin 33 gene DOID:1508 candidiasis treatment ISO RGD:1322461 D RGD:9068941 20201105 RGD PMID:22661085|REF_RGD_ID:40400896 12041432 IL33 interleukin 33 gene DOID:219 colon cancer treatment ISO RGD:1311155 D RGD:9068941 20201023 RGD associated with colitis; PMID:31407335|REF_RGD_ID:39939040 12041432 IL33 interleukin 33 gene DOID:2841 asthma ISO RGD:1322461 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19198610|PMID:21804549|PMID:24241537|PMID:27472835|PMID:29067999 12041432 IL33 interleukin 33 gene DOID:2841 asthma severity ISO RGD:1322461 D RGD:9068941 20201016 RGD associated with fungal infectious disease PMID:25746970|REF_RGD_ID:39938968 12041432 IL33 interleukin 33 gene DOID:2841 asthma treatment ISO RGD:1322462 D RGD:9068941 20201022 RGD associated with viral pneumonia; PMID:28947081|REF_RGD_ID:39939002 12041432 IL33 interleukin 33 gene DOID:2957 pulmonary tuberculosis ISO RGD:1322462 D RGD:9068941 20201016 RGD PMID:28128217|REF_RGD_ID:39938965 12041432 IL33 interleukin 33 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1322462 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:lung: PMID:30952808|REF_RGD_ID:40400740 12041432 IL33 interleukin 33 gene DOID:3310 atopic dermatitis ISO RGD:1322461 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 12041432 IL33 interleukin 33 gene DOID:399 tuberculosis ISO RGD:1322461 D RGD:9068941 20201105 RGD associated with Pleural Effusion;protein:increased expression:pleural biopsy PMID:25755791|REF_RGD_ID:40400701 12041432 IL33 interleukin 33 gene DOID:5082 liver cirrhosis severity ISO RGD:1322461 D RGD:9068941 20201030 RGD PMID:31053540|REF_RGD_ID:40400690 12041432 IL33 interleukin 33 gene DOID:5082 liver cirrhosis severity ISO RGD:1322462 D RGD:9068941 20201015 RGD associated with Schistosomiasis Japonica PMID:31200771|REF_RGD_ID:39938956 12041432 IL33 interleukin 33 gene DOID:552 pneumonia ISO RGD:1322461 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24453940 12041432 IL33 interleukin 33 gene DOID:557 kidney disease ISO RGD:1322461 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21949094 12041432 IL33 interleukin 33 gene DOID:630 genetic disease ISO RGD:1322461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12041432 IL33 interleukin 33 gene DOID:646 viral encephalitis ISO RGD:1322462 D RGD:9068941 20201008 RGD mRNA,protein:increased expression:brain,F4/80+ cell PMID:27334012|REF_RGD_ID:39457934 12041432 IL33 interleukin 33 gene DOID:750 peptic ulcer disease susceptibility ISO RGD:1322461 D RGD:9068941 20201015 RGD associated with Helicobacter Infections;DNA:SNP: : rs1929992(human) PMID:31491552|REF_RGD_ID:39938849 12041432 IL33 interleukin 33 gene DOID:824 periodontitis ISO RGD:1322462 D RGD:9068941 20201015 RGD associated with Gram-Negative Bacterial Infections;mRNA:increased expression:gingvia PMID:25808546|REF_RGD_ID:39938855 12041432 IL33 interleukin 33 gene DOID:824 periodontitis severity ISO RGD:1322462 D RGD:9068941 20201015 RGD associated with Gram-Negative Bacterial Infections; PMID:25808546|REF_RGD_ID:39938855 12041432 IL33 interleukin 33 gene DOID:8469 influenza ISO RGD:1322462 D RGD:9068941 20201105 RGD PMID:28401938|REF_RGD_ID:40400699 12041432 IL33 interleukin 33 gene DOID:8566 herpes simplex ISO RGD:1322461 D RGD:9068941 20201022 RGD protein:increased expression:skin PMID:26872602|REF_RGD_ID:39939003 12041432 IL33 interleukin 33 gene DOID:8566 herpes simplex ISO RGD:1322462 D RGD:9068941 20201022 RGD protein:increased expression:skin PMID:26872602|REF_RGD_ID:39939003 12041432 IL33 interleukin 33 gene DOID:8577 ulcerative colitis ISO RGD:1322461 D RGD:9068941 20201015 RGD mRNA:increased expression:sigmoid colon PMID:25112700|REF_RGD_ID:39938951 12041432 IL33 interleukin 33 gene DOID:8577 ulcerative colitis severity ISO RGD:1322461 D RGD:9068941 20201112 RGD PMID:21037074|REF_RGD_ID:40813742 12041432 IL33 interleukin 33 gene DOID:8577 ulcerative colitis treatment ISO RGD:1322462 D RGD:9068941 20201016 RGD PMID:28802904|REF_RGD_ID:39938966 12041432 IL33 interleukin 33 gene DOID:883 parasitic helminthiasis infectious disease treatment ISO RGD:1322462 D RGD:9068941 20201022 RGD PMID:25912172|REF_RGD_ID:39939026 12041432 IL33 interleukin 33 gene DOID:9000099 Experimental Colitis severity ISO RGD:1322462 D RGD:9068941 20201015 RGD PMID:25112700|REF_RGD_ID:39938951 12041432 IL33 interleukin 33 gene DOID:9000099 Experimental Colitis treatment ISO RGD:1322462 D RGD:9068941 20201023 RGD PMID:28423665|REF_RGD_ID:39939041 12041432 IL33 interleukin 33 gene DOID:9000469 Viral Myocarditis treatment ISO RGD:1322462 D RGD:9068941 20201105 RGD PMID:28041873|REF_RGD_ID:40400900 12041432 IL33 interleukin 33 gene DOID:9001004 Chronic Periodontitis ISO RGD:1322461 D RGD:9068941 20201015 RGD mRNA, protein:increased expression:gingiva PMID:25808546|REF_RGD_ID:39938855 12041432 IL33 interleukin 33 gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:1322462 D RGD:9068941 20201105 RGD mRNA:increased expression:lung: PMID:28401938|REF_RGD_ID:40400699 12041432 IL33 interleukin 33 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322461 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12041432 IL33 interleukin 33 gene DOID:9002211 Hyperalgesia ISO RGD:1311155 D RGD:9068941 20201105 RGD PMID:29329586|REF_RGD_ID:40400909 12041432 IL33 interleukin 33 gene DOID:9002433 Schistosomiasis Japonica ISO RGD:1322461 D RGD:9068941 20201022 RGD protein:increased expression:serum PMID:22590860|REF_RGD_ID:39939027 12041432 IL33 interleukin 33 gene DOID:9002433 Schistosomiasis Japonica severity ISO RGD:1322462 D RGD:9068941 20201105 RGD PMID:25944738|REF_RGD_ID:40400890 12041432 IL33 interleukin 33 gene DOID:9002433 Schistosomiasis Japonica treatment ISO RGD:1322462 D RGD:9068941 20201105 RGD PMID:25944738|REF_RGD_ID:40400890 12041432 IL33 interleukin 33 gene DOID:9002457 Experimental Arthritis ISO RGD:1322461 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20472598 12041432 IL33 interleukin 33 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:1322461 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22967010 12041432 IL33 interleukin 33 gene DOID:9002992 Nematode Infections ISO RGD:1322462 D RGD:9068941 20201105 RGD associated with Nippostrongylus brasiliensis infection; mRNA:increased expression:lung PMID:22331917|REF_RGD_ID:40400742 12041432 IL33 interleukin 33 gene DOID:9003369 Strongylida Infections ISO RGD:1322462 D RGD:9068941 20201105 RGD mRNA:increased expression:lung PMID:22331917|REF_RGD_ID:40400742 12041432 IL33 interleukin 33 gene DOID:9003603 Hemolysis ISO RGD:1322461 D RGD:9068941 20201030 RGD associated with sickle cell anemia;protein:increased expression:plasma: PMID:26107423|REF_RGD_ID:40400691 12041432 IL33 interleukin 33 gene DOID:9003936 Cardiomegaly ISO RGD:1322462 D RGD:9068941 20201112 RGD protein:increased expression:cardiomyocyte PMID:17492053|REF_RGD_ID:40813740 12041432 IL33 interleukin 33 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1311155 D RGD:9068941 20201112 RGD PMID:17492053|REF_RGD_ID:40813740 12041432 IL33 interleukin 33 gene DOID:9004036 Superinfection ISO RGD:1322462 D RGD:9068941 20201105 RGD influenza and Pneumonia, Staphylococcal PMID:28401938|REF_RGD_ID:40400699 12041432 IL33 interleukin 33 gene DOID:9004484 Sepsis ISO RGD:1322461 D RGD:9068941 20201105 RGD protein:increased expression:plasma: PMID:29935165|REF_RGD_ID:40400895 12041432 IL33 interleukin 33 gene DOID:9004484 Sepsis ISO RGD:1322462 D RGD:9068941 20201105 RGD protein:increased expression:plasma, peritoneal fluid: PMID:29935165|REF_RGD_ID:40400895 12041432 IL33 interleukin 33 gene DOID:9004484 Sepsis severity ISO RGD:1322461 D RGD:9068941 20201105 RGD PMID:25665614|REF_RGD_ID:40400739 12041432 IL33 interleukin 33 gene DOID:9004531 Cardiovirus Infections ISO RGD:1322462 D RGD:9068941 20201105 RGD mRNA:increased expression:brain: PMID:18552204|REF_RGD_ID:40400716 12041432 IL33 interleukin 33 gene DOID:9005724 Fungal Lung Diseases ISO RGD:1322462 D RGD:9068941 20201016 RGD protein:increased expression:lung PMID:25746970|REF_RGD_ID:39938968 12041432 IL33 interleukin 33 gene DOID:9005966 Staphylococcal Skin Infections ISO RGD:1322462 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:skin PMID:23892028|REF_RGD_ID:40400893 12041432 IL33 interleukin 33 gene DOID:9005966 Staphylococcal Skin Infections treatment ISO RGD:1322462 D RGD:9068941 20201105 RGD PMID:23892028|REF_RGD_ID:40400893 12041432 IL33 interleukin 33 gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:1311155 D RGD:9068941 20201105 RGD protein:increased expression:spinal cord: PMID:29329586|REF_RGD_ID:40400909 12041432 IL33 interleukin 33 gene DOID:9006535 Hookworm Infections ISO RGD:1322462 D RGD:9068941 20201015 RGD mRNA,protein:increased expression:Bronchoalveolar lavage, epithelium, macrophage PMID:22329990|REF_RGD_ID:39938827 12041432 IL33 interleukin 33 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1322461 D RGD:9068941 20201023 RGD protein:increased expression:nasal mucus PMID:28471975|REF_RGD_ID:38596342 12041432 IL33 interleukin 33 gene DOID:9007417 Pseudomonas Infections ISO RGD:1322462 D RGD:9068941 20201105 RGD mRNA:increased expression:lung: PMID:28401938|REF_RGD_ID:40400699 12041432 IL33 interleukin 33 gene DOID:9008114 Helicobacter Infections ISO RGD:1322461 D RGD:9068941 20201022 RGD mRNA:increased expression:stomach PMID:31320834|REF_RGD_ID:39939030 12041432 IL33 interleukin 33 gene DOID:9008114 Helicobacter Infections severity ISO RGD:1322461 D RGD:9068941 20201015 RGD associated with Helicobacter Infections;DNA:SNP: : rs1929992(human) PMID:31491552|REF_RGD_ID:39938849 12041432 IL33 interleukin 33 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:1322461 D RGD:9068941 20201008 RGD PMID:27180842|REF_RGD_ID:39457933 12041432 IL33 interleukin 33 gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1322462 D RGD:9068941 20201015 RGD PMID:25714983|REF_RGD_ID:39938954 12041432 IL33 interleukin 33 gene DOID:9351 diabetes mellitus ISO RGD:1311155 D RGD:9068941 20201105 RGD protein:increased expression:serum,ovary PMID:28412870|REF_RGD_ID:40400904 12041432 IL33 interleukin 33 gene DOID:9408 acute myocardial infarction ISO RGD:1311155 D RGD:9068941 20201112 RGD PMID:24837094|REF_RGD_ID:40813741 12041432 IL33 interleukin 33 gene DOID:9778 irritable bowel syndrome severity ISO RGD:1322461 D RGD:9068941 20201030 RGD PMID:23172891|REF_RGD_ID:40400694 12041432 Il33 interleukin 33 gene DOID:9004484 Sepsis ISO RGD:1322462 D RGD:9068941 20201022 RGD PMID:29672927|REF_RGD_ID:39939028 12041450 FLT3LG fms related receptor tyrosine kinase 3 ligand gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1353824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12041450 FLT3LG fms related receptor tyrosine kinase 3 ligand gene DOID:12449 aplastic anemia ISO RGD:1353824 D RGD:9068941 20200609 RGD protein:increased expression:serum,plasma: PMID:7492765|REF_RGD_ID:11049505 12041450 FLT3LG fms related receptor tyrosine kinase 3 ligand gene DOID:13636 Fanconi anemia ISO RGD:1353824 D RGD:9068941 20200609 RGD protein:increased expression:serum,plasma: PMID:7492765|REF_RGD_ID:11049505 12041450 FLT3LG fms related receptor tyrosine kinase 3 ligand gene DOID:1520 colon carcinoma treatment ISO RGD:1353824 D RGD:9068941 20200609 RGD PMID:10842197|REF_RGD_ID:11049504 12041450 FLT3LG fms related receptor tyrosine kinase 3 ligand gene DOID:1793 pancreatic cancer ISO RGD:2322792 D RGD:9068941 20200609 RGD PMID:16528542|REF_RGD_ID:11049499 12041450 FLT3LG fms related receptor tyrosine kinase 3 ligand gene DOID:3068 glioblastoma treatment ISO RGD:1353824 D RGD:9068941 20200609 RGD PMID:18079358|REF_RGD_ID:11049502 12041450 FLT3LG fms related receptor tyrosine kinase 3 ligand gene DOID:3070 high grade glioma treatment ISO RGD:1353824 D RGD:9068941 20200609 RGD PMID:15564139|REF_RGD_ID:11049500 12041450 FLT3LG fms related receptor tyrosine kinase 3 ligand gene DOID:4971 myelofibrosis ISO RGD:1353824 D RGD:9068941 20200609 RGD protein:increased expression:plasma, CD34+ cell, bone marrow fibroblast: PMID:21487043|REF_RGD_ID:11049484 12041450 FLT3LG fms related receptor tyrosine kinase 3 ligand gene DOID:5844 myocardial infarction treatment ISO RGD:1557069 D RGD:9068941 20200609 RGD PMID:24184252|REF_RGD_ID:11049498 12041450 FLT3LG fms related receptor tyrosine kinase 3 ligand gene DOID:630 genetic disease ISO RGD:1353824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12041450 FLT3LG fms related receptor tyrosine kinase 3 ligand gene DOID:9000300 Refractory Anemia ISO RGD:1353824 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:10214861|REF_RGD_ID:11049479 12041450 FLT3LG fms related receptor tyrosine kinase 3 ligand gene DOID:9538 multiple myeloma disease_progression ISO RGD:1353824 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:26521986|REF_RGD_ID:11075232 12041467 LOC100988043 eukaryotic initiation factor 4A-III gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1352000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:28492532 12041467 LOC100988043 eukaryotic initiation factor 4A-III gene DOID:1059 intellectual disability ISO RGD:1352000 D RGD:9068941 20200611 RGD DNA:duplications:cds: (human) PMID:23376982|REF_RGD_ID:10045550 12041467 LOC100988043 eukaryotic initiation factor 4A-III gene DOID:1793 pancreatic cancer ISO RGD:1352000 D RGD:9068941 20200611 RGD protein:increased expression:serum (human) PMID:15796914|REF_RGD_ID:10045549 12041467 LOC100988043 eukaryotic initiation factor 4A-III gene DOID:2752 glycogen storage disease II ISO RGD:1352000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:28492532 12041467 LOC100988043 eukaryotic initiation factor 4A-III gene DOID:630 genetic disease ISO RGD:1352000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12041467 LOC100988043 eukaryotic initiation factor 4A-III gene DOID:9004119 Richieri Costa Pereira Syndrome ISO RGD:1352000 D RGD:7240710 20200610 OMIM 12041467 LOC100988043 eukaryotic initiation factor 4A-III gene DOID:9004119 Richieri Costa Pereira Syndrome ISO RGD:1352000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Richieri Costa-Pereira syndrome PMID:24360810 12041467 LOC100988043 eukaryotic initiation factor 4A-III gene DOID:9212 pityriasis rubra pilaris ISO RGD:1352000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 12041468 ZYG11A zyg-11 family member A, cell cycle regulator gene DOID:630 genetic disease ISO RGD:1601783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12041500 GNG3 G protein subunit gamma 3 gene DOID:0050788 proximal symphalangism ISO RGD:1350428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger 12041500 GNG3 G protein subunit gamma 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12041500 GNG3 G protein subunit gamma 3 gene DOID:0111136 congenital generalized lipodystrophy type 2 ISO RGD:1350428 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 2 PMID:25741868 12041500 GNG3 G protein subunit gamma 3 gene DOID:1059 intellectual disability ISO RGD:1350428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12041500 GNG3 G protein subunit gamma 3 gene DOID:3459 breast carcinoma ISO RGD:1350428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast carcinoma 12041500 GNG3 G protein subunit gamma 3 gene DOID:630 genetic disease ISO RGD:1350428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12041500 GNG3 G protein subunit gamma 3 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:1350428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Reduced delayed hypersensitivity 12041500 GNG3 G protein subunit gamma 3 gene DOID:9351 diabetes mellitus ISO RGD:1350428 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:26467025 12041546 MIP major intrinsic protein of lens fiber gene DOID:0060282 persistent hyperplastic primary vitreous ISO RGD:735323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous PMID:24120416|PMID:25741868|PMID:26694549|PMID:28492532|PMID:29770612 12041546 MIP major intrinsic protein of lens fiber gene DOID:0110251 cataract 15 multiple types ISO RGD:735323 D RGD:7240710 20180130 OMIM 12041546 MIP major intrinsic protein of lens fiber gene DOID:0110251 cataract 15 multiple types ISO RGD:735323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 15 multiple types PMID:10802646|PMID:10937580|PMID:16199547|PMID:16564824|PMID:17576681|PMID:18501347|PMID:20361015|PMID:21921980|PMID:24120416|PMID:24319327|PMID:24405844|PMID:25741868|PMID:25803033|PMID:26694549|PMID:27456987|PMID:28492532|PMID:29695758|PMID:29770612|PMID:3456204|PMID:9536098 12041546 MIP major intrinsic protein of lens fiber gene DOID:10629 microphthalmia ISO RGD:735323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia PMID:25741868 12041546 MIP major intrinsic protein of lens fiber gene DOID:630 genetic disease ISO RGD:735323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12041546 MIP major intrinsic protein of lens fiber gene DOID:83 cataract ISO RGD:735323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract PMID:24120416|PMID:25741868|PMID:26694549|PMID:28492532|PMID:29770612 12041546 MIP major intrinsic protein of lens fiber gene DOID:9650 pathologic nystagmus ISO RGD:735323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:25741868 12041554 YEATS4 YEATS domain containing 4 gene DOID:3070 high grade glioma ISO RGD:1305741 D RGD:9068941 20200609 RGD PMID:11521196|REF_RGD_ID:1598696 12041554 YEATS4 YEATS domain containing 4 gene DOID:3382 liposarcoma ISO RGD:1353043 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20601955 12041568 MYO15A myosin XVA gene DOID:0050563 nonsyndromic deafness ISO RGD:1343693 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:17546645|PMID:20642360|PMID:23208854|PMID:24033266|PMID:24123792|PMID:24875298|PMID:25741868|PMID:26969326|PMID:27068579|PMID:27734841|PMID:27870113|PMID:28000701|PMID:28492532|PMID:30311386|PMID:31980526|PMID:7704031|PMID:9603736 12041568 MYO15A myosin XVA gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1343693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:17546645|PMID:27573290|PMID:28492532|PMID:30303587 12041568 MYO15A myosin XVA gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1343693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 12041568 MYO15A myosin XVA gene DOID:0050777 Joubert syndrome ISO RGD:1343693 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12041568 MYO15A myosin XVA gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1343693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12041568 MYO15A myosin XVA gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1343693 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12041568 MYO15A myosin XVA gene DOID:0110488 autosomal recessive nonsyndromic deafness 3 ISO RGD:1343693 D RGD:7240710 20180130 OMIM 12041568 MYO15A myosin XVA gene DOID:0110488 autosomal recessive nonsyndromic deafness 3 ISO RGD:1343693 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 3 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3 PMID:10552926|PMID:11735029|PMID:16199547|PMID:17546645|PMID:17576681|PMID:17853461|PMID:19274735|PMID:20642360|PMID:21917145|PMID:22245518|PMID:22736430|PMID:22903915|PMID:23208854|PMID:23767834|PMID:23804846|PMID:23865914|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24123792|PMID:24130743|PMID:24206587|PMID:24498627|PMID:24853665|PMID:24875298|PMID:25262649|PMID:25373420|PMID:2574186|PMID:25741868|PMID:25792667|PMID:26075876|PMID:26226137|PMID:26242193|PMID:26302205|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26561413|PMID:26633542|PMID:26810297|PMID:26915297|PMID:26969326|PMID:27068579|PMID:27344577|PMID:27375115|PMID:27436265|PMID:27734841|PMID:27870113|PMID:28000701|PMID:28492532|PMID:29196752|PMID:29907799|PMID:29986705|PMID:30096381|PMID:30139988|PMID:30303587|PMID:30311386|PMID:30622556|PMID:30828794|PMID:30953472|PMID:31053783|PMID:31130284|PMID:31581539|PMID:31827275|PMID:31980526|PMID:32623615|PMID:32747562|PMID:32860223|PMID:33187236|PMID:33398081|PMID:33524517|PMID:34599368|PMID:35802133|PMID:36633841|PMID:7616538|PMID:7704031|PMID:9536098|PMID:9603736 12041568 MYO15A myosin XVA gene DOID:10003 sensorineural hearing loss ISO RGD:1343693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital sensorineural hearing impairment PMID:17546645|PMID:17576681|PMID:24033266|PMID:24875298|PMID:25741868|PMID:26969326|PMID:28492532|PMID:9536098 12041568 MYO15A myosin XVA gene DOID:10983 Alport syndrome ISO RGD:1343693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alport syndrome PMID:28492532|PMID:30311386 12041568 MYO15A myosin XVA gene DOID:12849 autistic disorder ISO RGD:1343693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12041568 MYO15A myosin XVA gene DOID:1432 blindness induces ISO RGD:1561873 D RGD:9068941 20210910 RGD DNA:missense mutation:cds:exon 56 T>C, p.Leu3157Pro (rat) PMID:21479269|REF_RGD_ID:150429616 12041568 MYO15A myosin XVA gene DOID:1432 blindness induces ISO XCO:0000181 D RGD:9068941 20210917 RGD compared to LEW/Ztm PMID:21479269|REF_RGD_ID:150429616 12041568 MYO15A myosin XVA gene DOID:1826 epilepsy ISO RGD:1343693 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizure PMID:24033266|PMID:25741868|PMID:26445815|PMID:27375115|PMID:28492532 12041568 MYO15A myosin XVA gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1343693 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Agenesis of hemidiaphragm PMID:24033266|PMID:25741868|PMID:26445815|PMID:27375115|PMID:28492532 12041568 MYO15A myosin XVA gene DOID:630 genetic disease ISO RGD:1343693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15654330|PMID:17546645|PMID:17851452|PMID:21917145|PMID:23767834|PMID:24033266|PMID:2574186|PMID:25741868|PMID:25792667|PMID:26242193|PMID:26467025|PMID:27375115|PMID:27870113|PMID:28492532|PMID:30311386|PMID:30622556|PMID:31827275|PMID:32747562|PMID:7616538|PMID:7704031 12041568 MYO15A myosin XVA gene DOID:674 cleft palate ISO RGD:1343693 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:24033266|PMID:25741868|PMID:26445815|PMID:27375115|PMID:28492532 12041568 MYO15A myosin XVA gene DOID:9004538 Hearing Loss ISO RGD:1343693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:17546645|PMID:21917145|PMID:23208854|PMID:23767834|PMID:24033266|PMID:24123792|PMID:24875298|PMID:2574186|PMID:25741868|PMID:25792667|PMID:26242193|PMID:26969326|PMID:27375115|PMID:27870113|PMID:28000701|PMID:28492532|PMID:30311386|PMID:30622556|PMID:31827275|PMID:31980526|PMID:32747562|PMID:33524517|PMID:7616538|PMID:7704031 12041568 MYO15A myosin XVA gene DOID:9007233 Deafness, with Smith-Magenis Syndrome ISO RGD:1343693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, with smith-magenis syndrome PMID:11735029|PMID:17546645|PMID:19274735|PMID:24033266|PMID:28492532 12041568 MYO15A myosin XVA gene DOID:9008086 Developmental Disabilities ISO RGD:1343693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24033266|PMID:25741868|PMID:26445815|PMID:27375115|PMID:28492532 12041642 ARHGAP11A Rho GTPase activating protein 11A gene DOID:630 genetic disease ISO RGD:1602334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12041642 ARHGAP11A Rho GTPase activating protein 11A gene DOID:684 hepatocellular carcinoma ISO RGD:1602334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12041642 ARHGAP11A Rho GTPase activating protein 11A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12041642 ARHGAP11A Rho GTPase activating protein 11A gene DOID:9256 colorectal cancer ISO RGD:1602334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 12041667 IGBP1 immunoglobulin binding protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12041667 IGBP1 immunoglobulin binding protein 1 gene DOID:0060816 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome ISO RGD:732872 D RGD:7240710 20180130 OMIM 12041667 IGBP1 immunoglobulin binding protein 1 gene DOID:0060816 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome ISO RGD:732872 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome PMID:25741868 12041667 IGBP1 immunoglobulin binding protein 1 gene DOID:12849 autistic disorder ISO RGD:732872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12041667 IGBP1 immunoglobulin binding protein 1 gene DOID:630 genetic disease ISO RGD:732872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12041667 IGBP1 immunoglobulin binding protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21339737 12041667 IGBP1 immunoglobulin binding protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21339737 12041667 IGBP1 immunoglobulin binding protein 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21339737 12041667 IGBP1 immunoglobulin binding protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21339737 12041678 SIX2 SIX homeobox 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1321897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12041678 SIX2 SIX homeobox 2 gene DOID:0080205 CAKUT ISO RGD:1321897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:27657687|PMID:28492532|PMID:32164334 12041678 SIX2 SIX homeobox 2 gene DOID:0081044 frontonasal dysplasia ISO RGD:1321897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18570229 12041678 SIX2 SIX homeobox 2 gene DOID:0110872 holoprosencephaly 2 ISO RGD:1321897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 2 PMID:28492532|PMID:32796691 12041678 SIX2 SIX homeobox 2 gene DOID:2154 nephroblastoma ISO RGD:1321897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 12041678 SIX2 SIX homeobox 2 gene DOID:3883 Lynch syndrome ISO RGD:1321897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12041678 SIX2 SIX homeobox 2 gene DOID:5176 renal Wilms' tumor ISO RGD:1321897 D RGD:9068941 20221103 RGD human tumor in mouse model PMID:18467665|REF_RGD_ID:155631277 12041678 SIX2 SIX homeobox 2 gene DOID:557 kidney disease ISO RGD:1321897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18570229 12041678 SIX2 SIX homeobox 2 gene DOID:630 genetic disease ISO RGD:1321897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12041678 SIX2 SIX homeobox 2 gene DOID:674 cleft palate ISO RGD:1321898 D RGD:9068941 20221124 MouseDO 12041678 SIX2 SIX homeobox 2 gene DOID:784 chronic kidney disease treatment ISO RGD:1321897 D RGD:9068941 20221103 RGD human cells in rat model PMID:33298161|REF_RGD_ID:155631310 12041678 SIX2 SIX homeobox 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1321898 D RGD:9068941 20221103 RGD mRNA:altered expression:kidney (mouse) PMID:18467665|REF_RGD_ID:155631277 12041684 EMB embigin gene DOID:3042 allergic contact dermatitis ISO RGD:1342878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 12041684 EMB embigin gene DOID:630 genetic disease ISO RGD:1342878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12041684 EMB embigin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12041684 EMB embigin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12041700 GUCY2C guanylate cyclase 2C gene DOID:0060296 congenital secretory chloride diarrhea 1 ISO RGD:732111 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE PMID:25741868|PMID:28492532 12041700 GUCY2C guanylate cyclase 2C gene DOID:0060611 abdominal obesity-metabolic syndrome ISO RGD:736529 D RGD:9068941 20220825 MouseDO 12041700 GUCY2C guanylate cyclase 2C gene DOID:0060780 congenital diarrhea 6 ISO RGD:732111 D RGD:7240710 20190904 OMIM 12041700 GUCY2C guanylate cyclase 2C gene DOID:0060780 congenital diarrhea 6 ISO RGD:732111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital diarrhea 6 PMID:22436048|PMID:24033266|PMID:25741868|PMID:28492532 12041700 GUCY2C guanylate cyclase 2C gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:732111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12041700 GUCY2C guanylate cyclase 2C gene DOID:0080216 duodenal atresia ISO RGD:732111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Duodenal atresia 12041700 GUCY2C guanylate cyclase 2C gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:732111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12041700 GUCY2C guanylate cyclase 2C gene DOID:0110892 inflammatory bowel disease 1 ISO RGD:732111 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 PMID:25741868 12041700 GUCY2C guanylate cyclase 2C gene DOID:13250 diarrhea ISO RGD:732111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22436048 12041700 GUCY2C guanylate cyclase 2C gene DOID:630 genetic disease ISO RGD:732111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12041700 GUCY2C guanylate cyclase 2C gene DOID:8778 Crohn's disease ISO RGD:732111 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 PMID:25741868 12041700 GUCY2C guanylate cyclase 2C gene DOID:9006465 Meconium Ileus ISO RGD:732111 D RGD:7240710 20180130 OMIM 12041700 GUCY2C guanylate cyclase 2C gene DOID:9006465 Meconium Ileus ISO RGD:732111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | ClinVar Annotator: match by term: Meconium ileus PMID:22521417|PMID:24033266|PMID:25370039|PMID:25741868|PMID:28492532|PMID:33223529|PMID:4006357 12041700 GUCY2C guanylate cyclase 2C gene DOID:9008443 Colorectal Neoplasms ISO RGD:732111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17155897 12041700 GUCY2C guanylate cyclase 2C gene DOID:9970 obesity ISO RGD:736529 D RGD:9068941 20220825 MouseDO OMIM:601665 12041736 RIMBP2 RIMS binding protein 2 gene DOID:630 genetic disease ISO RGD:1606822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12041783 PDCD2 programmed cell death 2 gene DOID:630 genetic disease ISO RGD:733734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12041817 FANK1 fibronectin type III and ankyrin repeat domains 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1312384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12041817 FANK1 fibronectin type III and ankyrin repeat domains 1 gene DOID:630 genetic disease ISO RGD:1312384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12041832 LOX lysyl oxidase gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12041832 LOX lysyl oxidase gene DOID:0080685 aortic dissection ISO RGD:736846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute aortic dissection PMID:12417550|PMID:26838787|PMID:27432961|PMID:28492532|PMID:30675029|PMID:31211696|PMID:31459939 12041832 LOX lysyl oxidase gene DOID:10763 hypertension ISO RGD:3015 D RGD:9068941 20200609 RGD PMID:24127|REF_RGD_ID:1581899 12041832 LOX lysyl oxidase gene DOID:10763 hypertension ISO RGD:736846 D RGD:9068941 20200609 RGD PMID:8562290|REF_RGD_ID:1581896 12041832 LOX lysyl oxidase gene DOID:12236 primary biliary cholangitis ISO RGD:736846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023247 12041832 LOX lysyl oxidase gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:736846 D RGD:9068941 20200609 RGD PMID:8638917|REF_RGD_ID:1581895 12041832 LOX lysyl oxidase gene DOID:14004 thoracic aortic aneurysm ISO RGD:736846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:24033266|PMID:25741868|PMID:26838787|PMID:27432961|PMID:28492532|PMID:30675029|PMID:34281165 12041832 LOX lysyl oxidase gene DOID:14004 thoracic aortic aneurysm ISO RGD:736846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12417550|PMID:24033266|PMID:25741868|PMID:26838787|PMID:27432961|PMID:28492532|PMID:30675029|PMID:31211696|PMID:31459939|PMID:34281165 12041832 LOX lysyl oxidase gene DOID:1838 Menkes disease ISO RGD:732343 D RGD:9068941 20220825 MouseDO OMIM:309400 12041832 LOX lysyl oxidase gene DOID:1838 Menkes disease ISO RGD:736846 D RGD:9068941 20200609 RGD PMID:8638917|REF_RGD_ID:1581895 12041832 LOX lysyl oxidase gene DOID:1883 hepatitis C ISO RGD:736846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023247 12041832 LOX lysyl oxidase gene DOID:1928 Williams-Beuren syndrome ISO RGD:732343 D RGD:9068941 20220825 MouseDO OMIM:194050 12041832 LOX lysyl oxidase gene DOID:2043 hepatitis B ISO RGD:736846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023247 12041832 LOX lysyl oxidase gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:736846 D RGD:9068941 20211112 RGD PMID:21282564|REF_RGD_ID:150520218 12041832 LOX lysyl oxidase gene DOID:2349 arteriosclerosis ISO RGD:3015 D RGD:9068941 20200609 RGD PMID:24127|REF_RGD_ID:1581899 12041832 LOX lysyl oxidase gene DOID:3144 cutis laxa ISO RGD:736846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa PMID:25741868 12041832 LOX lysyl oxidase gene DOID:3347 osteosarcoma ISO RGD:736846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23886186 12041832 LOX lysyl oxidase gene DOID:3393 coronary artery disease ISO RGD:3015 D RGD:9068941 20200609 RGD PMID:12393934|REF_RGD_ID:1581886 12041832 LOX lysyl oxidase gene DOID:3627 aortic aneurysm ISO RGD:732343 D RGD:9068941 20200609 RGD PMID:12417550|REF_RGD_ID:1581885 12041832 LOX lysyl oxidase gene DOID:4247 coronary restenosis ISO RGD:3015 D RGD:9068941 20200609 RGD PMID:15218472|REF_RGD_ID:1581881 12041832 LOX lysyl oxidase gene DOID:5082 liver cirrhosis ISO RGD:736846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 12041832 LOX lysyl oxidase gene DOID:57 aortic valve insufficiency ISO RGD:736846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 12041832 LOX lysyl oxidase gene DOID:5773 oral submucous fibrosis ISO RGD:736846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 12041832 LOX lysyl oxidase gene DOID:5844 myocardial infarction ISO RGD:732343 D RGD:9068941 20200609 RGD PMID:14553832|REF_RGD_ID:1581883 12041832 LOX lysyl oxidase gene DOID:630 genetic disease ISO RGD:736846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26838787|PMID:28492532|PMID:29961567 12041832 LOX lysyl oxidase gene DOID:6432 pulmonary hypertension ISO RGD:736846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24614111 12041832 LOX lysyl oxidase gene DOID:65 connective tissue disease ISO RGD:736846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 12041832 LOX lysyl oxidase gene DOID:7693 abdominal aortic aneurysm ISO RGD:3015 D RGD:9068941 20200609 RGD PMID:10965315|REF_RGD_ID:1581887 12041832 LOX lysyl oxidase gene DOID:893 Wilson disease ISO RGD:736846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023247 12041832 LOX lysyl oxidase gene DOID:9000442 Familial Thoracic Aortic Aneurysm 10 ISO RGD:736846 D RGD:7240710 20190315 OMIM 12041832 LOX lysyl oxidase gene DOID:9000442 Familial Thoracic Aortic Aneurysm 10 ISO RGD:736846 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-Related Disorder | ClinVar Annotator: match by term: LOX-related disorders PMID:12417550|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25017124|PMID:25741868|PMID:26838787|PMID:27432961|PMID:28492532|PMID:29086201|PMID:29961567|PMID:30675029|PMID:31211624|PMID:31506931|PMID:32860008|PMID:33648514|PMID:34281165|PMID:9536098 12041832 LOX lysyl oxidase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12041832 LOX lysyl oxidase gene DOID:9002884 Emphysema ISO RGD:736846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emphysema PMID:25741868 12041832 LOX lysyl oxidase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12041832 LOX lysyl oxidase gene DOID:9005883 Pleural Effusion ISO RGD:736846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleural effusion PMID:25741868 12041832 LOX lysyl oxidase gene DOID:9007023 Prenatal Injuries ISO RGD:736846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20045017 12041832 LOX lysyl oxidase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12041832 LOX lysyl oxidase gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:736846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial aortic dissection | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:12417550|PMID:26838787|PMID:27432961|PMID:28492532|PMID:30675029|PMID:31211696|PMID:31459939 12041832 LOX lysyl oxidase gene DOID:9256 colorectal cancer severity ISO RGD:736846 D RGD:9068941 20211112 RGD PMID:21282564|REF_RGD_ID:150520218 12041832 LOX lysyl oxidase gene DOID:9675 pulmonary emphysema ISO RGD:736846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary emphysema PMID:25741868 12041847 EPHX4 epoxide hydrolase 4 gene DOID:630 genetic disease ISO RGD:1318921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12041858 C2BH2orf66 chromosome 2B C2orf66 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12041863 JAK2 Janus kinase 2 gene DOID:0060474 familial erythrocytosis 2 ISO RGD:10823 D RGD:9068941 20200609 RGD PMID:21685897|REF_RGD_ID:6483049 12041863 JAK2 Janus kinase 2 gene DOID:0060652 familial erythrocytosis 1 ISO RGD:731748 D RGD:7240710 20180130 OMIM 12041863 JAK2 Janus kinase 2 gene DOID:0060652 familial erythrocytosis 1 ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 12041863 JAK2 Janus kinase 2 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:731748 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12041863 JAK2 Janus kinase 2 gene DOID:0060903 thrombosis ISO RGD:10823 D RGD:9068941 20200609 RGD associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F (human) PMID:22467227|REF_RGD_ID:15039391 12041863 JAK2 Janus kinase 2 gene DOID:0060903 thrombosis ISO RGD:2939 D RGD:9068941 20200609 RGD associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F (human) PMID:22467227|REF_RGD_ID:15039391 12041863 JAK2 Janus kinase 2 gene DOID:0060903 thrombosis ISO RGD:731748 D RGD:9068941 20200609 RGD associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F (human) PMID:22467227|REF_RGD_ID:15039391 12041863 JAK2 Janus kinase 2 gene DOID:0070004 myeloid neoplasm ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myeloproliferative disorder PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17267906|PMID:17989398|PMID:18256599|PMID:18394554|PMID:18805579|PMID:19036091|PMID:19287384|PMID:19293426|PMID:19470474|PMID:20339092|PMID:20585391|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22368270|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:22955920|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 12041863 JAK2 Janus kinase 2 gene DOID:0070004 myeloid neoplasm no_association ISO RGD:731748 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs12342421) (human) PMID:23845539|REF_RGD_ID:10449376 12041863 JAK2 Janus kinase 2 gene DOID:0070004 myeloid neoplasm severity ISO RGD:731748 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V617F (human) PMID:15858187|REF_RGD_ID:10449393 12041863 JAK2 Janus kinase 2 gene DOID:0070113 Niemann-Pick disease type C1 treatment ISO RGD:10823 D RGD:9068941 20200609 RGD PMID:21176403|REF_RGD_ID:10403054 12041863 JAK2 Janus kinase 2 gene DOID:0080199 colorectal carcinoma treatment ISO RGD:2939 D RGD:9068941 20210611 RGD PMID:29229353|REF_RGD_ID:127284843 12041863 JAK2 Janus kinase 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:18782535|REF_RGD_ID:6483030 12041863 JAK2 Janus kinase 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 12041863 JAK2 Janus kinase 2 gene DOID:0080547 non-alcoholic steatohepatitis ameliorates ISO RGD:10823 D RGD:9068941 20210702 RGD PMID:28100771|REF_RGD_ID:127285675 12041863 JAK2 Janus kinase 2 gene DOID:0080600 COVID-19 ISO RGD:731748 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12041863 JAK2 Janus kinase 2 gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 12041863 JAK2 Janus kinase 2 gene DOID:10534 stomach cancer ISO RGD:731748 D RGD:9068941 20210528 RGD associated with Helicobacter Infections; protein:increased expression:stomach (human) PMID:24718681|REF_RGD_ID:126928128 12041863 JAK2 Janus kinase 2 gene DOID:10534 stomach cancer susceptibility ISO RGD:731748 D RGD:9068941 20210528 RGD DNA:SNPs:exon, promoter: (rs2230724, rs1887427) (human) PMID:23717640|REF_RGD_ID:126925979 12041863 JAK2 Janus kinase 2 gene DOID:10534 stomach cancer treatment ISO RGD:731748 D RGD:9068941 20210625 RGD human cells in mouse model PMID:29408335|PMID:32106377|REF_RGD_ID:127284846|REF_RGD_ID:127284886 12041863 JAK2 Janus kinase 2 gene DOID:10603 glucose intolerance treatment ISO RGD:10823 D RGD:9068941 20200609 RGD associated with Alzheimer Disease PMID:23223021|REF_RGD_ID:10403052 12041863 JAK2 Janus kinase 2 gene DOID:10652 Alzheimer's disease treatment ISO RGD:10823 D RGD:9068941 20200609 RGD PMID:18813209|REF_RGD_ID:10403051 12041863 JAK2 Janus kinase 2 gene DOID:10762 portal hypertension severity ISO RGD:10823 D RGD:9068941 20200609 RGD associated with liver cirrhosis PMID:26385087|REF_RGD_ID:18337263 12041863 JAK2 Janus kinase 2 gene DOID:10762 portal hypertension severity ISO RGD:2939 D RGD:9068941 20200609 RGD associated with liver cirrhosis PMID:26385087|REF_RGD_ID:18337263 12041863 JAK2 Janus kinase 2 gene DOID:10762 portal hypertension severity ISO RGD:731748 D RGD:9068941 20200609 RGD associated with liver cirrhosis PMID:26385087|REF_RGD_ID:18337263 12041863 JAK2 Janus kinase 2 gene DOID:11054 urinary bladder cancer ISO RGD:731748 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36115647 12041863 JAK2 Janus kinase 2 gene DOID:1107 esophageal carcinoma treatment ISO RGD:731748 D RGD:9068941 20210625 RGD associated with Immune Deficiency Disease, human cells in mouse model PMID:25724470|REF_RGD_ID:127285656 12041863 JAK2 Janus kinase 2 gene DOID:114 heart disease treatment ISO RGD:2939 D RGD:9068941 20200609 RGD associated with Shock, Septic PMID:23404057|REF_RGD_ID:8694329 12041863 JAK2 Janus kinase 2 gene DOID:11512 Budd-Chiari syndrome ISO RGD:731748 D RGD:7240710 20180130 OMIM 12041863 JAK2 Janus kinase 2 gene DOID:11512 Budd-Chiari syndrome ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Budd-Chiari syndrome PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 12041863 JAK2 Janus kinase 2 gene DOID:1184 nephrotic syndrome ISO RGD:10823 D RGD:9068941 20200609 RGD PMID:17823504|REF_RGD_ID:6483037 12041863 JAK2 Janus kinase 2 gene DOID:12236 primary biliary cholangitis treatment ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:24619965|REF_RGD_ID:10403061 12041863 JAK2 Janus kinase 2 gene DOID:1240 leukemia ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19636672 12041863 JAK2 Janus kinase 2 gene DOID:1240 leukemia ISO RGD:731748 D RGD:9068941 20200609 RGD DNA:translocation: : PMID:9326218|REF_RGD_ID:10450609 12041863 JAK2 Janus kinase 2 gene DOID:13252 mesenteric vascular occlusion ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20434300 12041863 JAK2 Janus kinase 2 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:731748 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased tyrosine phosphorylation:liver PMID:24619965|REF_RGD_ID:10403061 12041863 JAK2 Janus kinase 2 gene DOID:1577 limited scleroderma ISO RGD:731748 D RGD:9068941 20200609 RGD PMID:20808962|REF_RGD_ID:4892610 12041863 JAK2 Janus kinase 2 gene DOID:182 calcinosis ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12041863 JAK2 Janus kinase 2 gene DOID:1920 hyperuricemia treatment ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:23442673|REF_RGD_ID:10411892 12041863 JAK2 Janus kinase 2 gene DOID:219 colon cancer treatment ISO RGD:2939 D RGD:9068941 20210611 RGD PMID:33360052|REF_RGD_ID:127229954 12041863 JAK2 Janus kinase 2 gene DOID:2224 essential thrombocythemia ISO RGD:10823 D RGD:9068941 20220825 MouseDO OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521 12041863 JAK2 Janus kinase 2 gene DOID:2224 essential thrombocythemia ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15781101|PMID:15858187|PMID:16484586|PMID:16896569|PMID:19154659|PMID:19636672|PMID:20434300|PMID:21942426 12041863 JAK2 Janus kinase 2 gene DOID:2224 essential thrombocythemia severity ISO RGD:731748 D RGD:9068941 20200609 RGD DNA:mutation: :p.V617F (human) PMID:23130336|REF_RGD_ID:10449178 12041863 JAK2 Janus kinase 2 gene DOID:2226 myeloproliferative neoplasm ISO RGD:10823 D RGD:9068941 20220825 MouseDO 12041863 JAK2 Janus kinase 2 gene DOID:2228 thrombocytosis ISO RGD:10823 D RGD:9068941 20200609 RGD associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F PMID:22467227|REF_RGD_ID:15039391 12041863 JAK2 Janus kinase 2 gene DOID:2228 thrombocytosis ISO RGD:2939 D RGD:9068941 20200609 RGD associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F PMID:22467227|REF_RGD_ID:15039391 12041863 JAK2 Janus kinase 2 gene DOID:2228 thrombocytosis ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19287382|PMID:19287384 12041863 JAK2 Janus kinase 2 gene DOID:2228 thrombocytosis ISO RGD:731748 D RGD:9068941 20200609 RGD DNA:point mutations: :p.S755R, p.R938Q (human) PMID:24398328|REF_RGD_ID:10449375 12041863 JAK2 Janus kinase 2 gene DOID:2228 thrombocytosis ISO RGD:731748 D RGD:9068941 20200609 RGD associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F PMID:22467227|REF_RGD_ID:15039391 12041863 JAK2 Janus kinase 2 gene DOID:2228 thrombocytosis ISO RGD:731748 D RGD:9068941 20200609 RGD essential thrombocythemia, OMIM:187950; DNA:transversion:CDS:1849G>T, amino acid V617F PMID:15781101|REF_RGD_ID:1627655 12041863 JAK2 Janus kinase 2 gene DOID:224 transient cerebral ischemia ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:23764464|REF_RGD_ID:8694326 12041863 JAK2 Janus kinase 2 gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:731748 D RGD:9068941 20210625 RGD human cells in mouse model PMID:22050790|REF_RGD_ID:127285665 12041863 JAK2 Janus kinase 2 gene DOID:234 colon adenocarcinoma treatment ISO RGD:731748 D RGD:9068941 20210409 RGD Human cell in mouse model PMID:32504672|REF_RGD_ID:125097526 12041863 JAK2 Janus kinase 2 gene DOID:2355 anemia ISO RGD:10823 D RGD:9068941 20200609 RGD PMID:9590174|REF_RGD_ID:737719 12041863 JAK2 Janus kinase 2 gene DOID:3021 acute kidney failure treatment ISO RGD:10823 D RGD:9068941 20210723 RGD associated with Carcinoma, Lewis Lung, human cells in mouse model PMID:31250048|REF_RGD_ID:149735351 12041863 JAK2 Janus kinase 2 gene DOID:3571 liver cancer severity ISO RGD:731748 D RGD:9068941 20200609 RGD mRNA:increased expression:liver,serum (human) PMID:27788478|REF_RGD_ID:18182929 12041863 JAK2 Janus kinase 2 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:731748 D RGD:9068941 20210702 RGD protein:increased phosphorylation:esophagus squamous epithelium (human) PMID:32158193|REF_RGD_ID:127285669 12041863 JAK2 Janus kinase 2 gene DOID:3905 lung carcinoma treatment ISO RGD:731748 D RGD:9068941 20210723 RGD human cells in mouse model PMID:26397387|REF_RGD_ID:11529462 12041863 JAK2 Janus kinase 2 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:731748 D RGD:9068941 20210716 RGD human cells in mouse model PMID:21325979|PMID:25869210|REF_RGD_ID:149735332|REF_RGD_ID:149735342 12041863 JAK2 Janus kinase 2 gene DOID:3910 lung adenocarcinoma treatment ISO RGD:731748 D RGD:9068941 20210716 RGD human cells in mouse model PMID:27025877|REF_RGD_ID:11574134 12041863 JAK2 Janus kinase 2 gene DOID:3948 adrenocortical carcinoma ISO RGD:731748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 12041863 JAK2 Janus kinase 2 gene DOID:4033 bacterial gastritis ISO RGD:731748 D RGD:9068941 20210528 RGD protein:increased expression:stomach (human) PMID:24718681|REF_RGD_ID:126928128 12041863 JAK2 Janus kinase 2 gene DOID:4079 heart valve disease ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12041863 JAK2 Janus kinase 2 gene DOID:4971 myelofibrosis ISO RGD:731748 D RGD:7240710 20180130 OMIM 12041863 JAK2 Janus kinase 2 gene DOID:4971 myelofibrosis ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelofibrosis, somatic PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 12041863 JAK2 Janus kinase 2 gene DOID:4971 myelofibrosis treatment ISO RGD:731748 D RGD:9068941 20200609 RGD PMID:22796437|REF_RGD_ID:10449377 12041863 JAK2 Janus kinase 2 gene DOID:5082 liver cirrhosis severity ISO RGD:10823 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:26385087|REF_RGD_ID:18337263 12041863 JAK2 Janus kinase 2 gene DOID:5082 liver cirrhosis severity ISO RGD:2939 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:26385087|REF_RGD_ID:18337263 12041863 JAK2 Janus kinase 2 gene DOID:5082 liver cirrhosis severity ISO RGD:731748 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:26385087|REF_RGD_ID:18337263 12041863 JAK2 Janus kinase 2 gene DOID:5327 retinal detachment ISO RGD:2939 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:retina PMID:22251399|REF_RGD_ID:10411890 12041863 JAK2 Janus kinase 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:731748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary Ovarian Insufficiency PMID:25741868 12041863 JAK2 Janus kinase 2 gene DOID:5434 scrapie ISO RGD:10823 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17897356|REF_RGD_ID:6483034 12041863 JAK2 Janus kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:731748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12041863 JAK2 Janus kinase 2 gene DOID:5844 myocardial infarction susceptibility ISO RGD:2939 D RGD:9068941 20200609 RGD associated with Myocardial Reperfusion Injury PMID:22749532|REF_RGD_ID:10403083 12041863 JAK2 Janus kinase 2 gene DOID:630 genetic disease ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12041863 JAK2 Janus kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:10823 D RGD:9068941 20210625 RGD associated with Diseases of the Aged and non-alcoholic fatty liver disease PMID:31393852|REF_RGD_ID:127285655 12041863 JAK2 Janus kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:10823 D RGD:9068941 20210625 RGD protein:increased phosphorylation:liver (mouse) PMID:22821478|REF_RGD_ID:127285621 12041863 JAK2 Janus kinase 2 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:10823 D RGD:9068941 20210702 RGD L-JAK2 KO PMID:28100771|REF_RGD_ID:127285675 12041863 JAK2 Janus kinase 2 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:731748 D RGD:9068941 20210528 RGD protein:increased phosphorylation:liver (human) PMID:22392353|REF_RGD_ID:125097525 12041863 JAK2 Janus kinase 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:10823 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:25420511|REF_RGD_ID:18182928 12041863 JAK2 Janus kinase 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:2939 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:25420511|REF_RGD_ID:18182928 12041863 JAK2 Janus kinase 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:731748 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:25420511|REF_RGD_ID:18182928 12041863 JAK2 Janus kinase 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2939 D RGD:9068941 20210716 RGD PMID:29486150|REF_RGD_ID:127285672 12041863 JAK2 Janus kinase 2 gene DOID:7147 ankylosing spondylitis susceptibility ISO RGD:731748 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human) PMID:20627814|REF_RGD_ID:6483025 12041863 JAK2 Janus kinase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:10823 D RGD:9068941 20200609 RGD PMID:21510883|REF_RGD_ID:6483024 12041863 JAK2 Janus kinase 2 gene DOID:8432 polycythemia ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 12041863 JAK2 Janus kinase 2 gene DOID:8552 chronic myeloid leukemia ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 12041863 JAK2 Janus kinase 2 gene DOID:8577 ulcerative colitis ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228799|PMID:21297633 12041863 JAK2 Janus kinase 2 gene DOID:8577 ulcerative colitis ISO RGD:731748 D RGD:9068941 20200609 RGD DNA:SNP: :rs10758669 (human) PMID:22269120|REF_RGD_ID:6483020 12041863 JAK2 Janus kinase 2 gene DOID:8778 Crohn's disease ISO RGD:731748 D RGD:9068941 20200609 RGD DNA:SNP: :rs10758669 (human) PMID:22269120|REF_RGD_ID:6483020 12041863 JAK2 Janus kinase 2 gene DOID:8997 polycythemia vera ISO RGD:731748 D RGD:7240710 20180130 OMIM 12041863 JAK2 Janus kinase 2 gene DOID:8997 polycythemia vera ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polycythemia rubra vera PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 12041863 JAK2 Janus kinase 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:23274522|REF_RGD_ID:10411896 12041863 JAK2 Janus kinase 2 gene DOID:9000099 Experimental Colitis treatment ISO RGD:2939 D RGD:9068941 20220623 RGD PMID:29572553|REF_RGD_ID:152995414 12041863 JAK2 Janus kinase 2 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29047144 12041863 JAK2 Janus kinase 2 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:731748 D RGD:9068941 20210611 RGD associated with stomach cancer, human cells in mouse model PMID:28186964|REF_RGD_ID:127229952 12041863 JAK2 Janus kinase 2 gene DOID:9000998 Brain Injuries ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:21596098|REF_RGD_ID:6483023 12041863 JAK2 Janus kinase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:10823 D RGD:9068941 20200609 RGD protein:increased expression, increased tyrosine phosphorylation:liver PMID:24619965|REF_RGD_ID:10403061 12041863 JAK2 Janus kinase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2939 D RGD:9068941 20200609 RGD protein:increased expression, increased tyrosine phosphorylation:liver PMID:24619965|REF_RGD_ID:10403061 12041863 JAK2 Janus kinase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12041863 JAK2 Janus kinase 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 12041863 JAK2 Janus kinase 2 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:22288937|REF_RGD_ID:10403073 12041863 JAK2 Janus kinase 2 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2939 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22745068|REF_RGD_ID:10403082 12041863 JAK2 Janus kinase 2 gene DOID:9002211 Hyperalgesia ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:18636982|REF_RGD_ID:6483031 12041863 JAK2 Janus kinase 2 gene DOID:9002211 Hyperalgesia treatment ISO RGD:10823 D RGD:9068941 20200609 RGD associated with Diabetic Neuropathies PMID:23511693|REF_RGD_ID:10403050 12041863 JAK2 Janus kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12041863 JAK2 Janus kinase 2 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:10823 D RGD:9068941 20200609 RGD PMID:22339472|REF_RGD_ID:10403066 12041863 JAK2 Janus kinase 2 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:22800927|PMID:23711144|REF_RGD_ID:10403074|REF_RGD_ID:10403081 12041863 JAK2 Janus kinase 2 gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features ISO RGD:731748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features PMID:18805579|PMID:19470474|PMID:20585391|PMID:22368270|PMID:22955920 12041863 JAK2 Janus kinase 2 gene DOID:9002720 Splenomegaly ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Enlarged Spleen PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 12041863 JAK2 Janus kinase 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10823 D RGD:9068941 20200609 RGD PMID:22066025|REF_RGD_ID:6483041 12041863 JAK2 Janus kinase 2 gene DOID:9003121 Thromboembolism ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19636672 12041863 JAK2 Janus kinase 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17989398 12041863 JAK2 Janus kinase 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27470402 12041863 JAK2 Janus kinase 2 gene DOID:9003871 Venous Thrombosis ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20434300 12041863 JAK2 Janus kinase 2 gene DOID:9003871 Venous Thrombosis ISO RGD:731748 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs12342421, rs12343867 (human) PMID:23845539|REF_RGD_ID:10449376 12041863 JAK2 Janus kinase 2 gene DOID:9003871 Venous Thrombosis ISO RGD:731748 D RGD:9068941 20200609 RGD DNA:mutation: :p.V617F (human) PMID:17059429|REF_RGD_ID:10449391 12041863 JAK2 Janus kinase 2 gene DOID:9003871 Venous Thrombosis no_association ISO RGD:731748 D RGD:9068941 20200609 RGD DNA:SNP: :rs10974944 (human) PMID:23845539|REF_RGD_ID:10449376 12041863 JAK2 Janus kinase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:10823 D RGD:9068941 20200609 RGD PMID:20440769|REF_RGD_ID:6483026 12041863 JAK2 Janus kinase 2 gene DOID:9004276 Thrombocythemia 3 ISO RGD:731748 D RGD:7240710 20180130 OMIM 12041863 JAK2 Janus kinase 2 gene DOID:9004276 Thrombocythemia 3 ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: THROMBOCYTOSIS 3 | ClinVar Annotator: match by term: Thrombocythemia 3 PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:30811597|PMID:32581362 12041863 JAK2 Janus kinase 2 gene DOID:9004484 Sepsis treatment ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:24228589|REF_RGD_ID:10411888 12041863 JAK2 Janus kinase 2 gene DOID:9004702 Pregnancy Complications ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19636672 12041863 JAK2 Janus kinase 2 gene DOID:9005372 Inflammation ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20943775 12041863 JAK2 Janus kinase 2 gene DOID:9006101 Primary Ovarian Failure ISO RGD:731748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ovarian failure PMID:25741868 12041863 JAK2 Janus kinase 2 gene DOID:9006257 Growth Disorders ISO RGD:2939 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic;protein:decreased expression:epiphyseal plate PMID:23715123|REF_RGD_ID:10403065 12041863 JAK2 Janus kinase 2 gene DOID:9007096 Stroke ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:18079966|REF_RGD_ID:6483032 12041863 JAK2 Janus kinase 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15746188|PMID:16214533 12041863 JAK2 Janus kinase 2 gene DOID:9007346 Cachexia treatment ISO RGD:10823 D RGD:9068941 20210709 RGD associated with colon adenocarcinoma PMID:28489606|REF_RGD_ID:127285673 12041863 JAK2 Janus kinase 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:731748 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:35568132 12041863 JAK2 Janus kinase 2 gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:22777122|REF_RGD_ID:10403072 12041863 JAK2 Janus kinase 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:23796350|REF_RGD_ID:8694332 12041863 JAK2 Janus kinase 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2939 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23747931|REF_RGD_ID:10403071 12041863 JAK2 Janus kinase 2 gene DOID:9007842 Sepsis-Associated Encephalopathy treatment ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:23236988|REF_RGD_ID:10403076 12041863 JAK2 Janus kinase 2 gene DOID:9008104 Cancer Pain treatment ISO RGD:2939 D RGD:9068941 20210716 RGD PMID:30027795|REF_RGD_ID:149735350 12041863 JAK2 Janus kinase 2 gene DOID:9008691 Liver Injury treatment ISO RGD:2939 D RGD:9068941 20200609 RGD associated with Pancreatitis, Acute PMID:24161994|REF_RGD_ID:8694328 12041863 JAK2 Janus kinase 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:10823 D RGD:9068941 20200609 RGD PMID:21880982|REF_RGD_ID:6483022 12041863 JAK2 Janus kinase 2 gene DOID:9119 acute myeloid leukemia ISO RGD:731748 D RGD:7240710 20180130 OMIM 12041863 JAK2 Janus kinase 2 gene DOID:9119 acute myeloid leukemia ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 12041863 JAK2 Janus kinase 2 gene DOID:9261 nasopharynx carcinoma severity ISO RGD:731748 D RGD:9068941 20210716 RGD protein:increased expression:mucosa of nasopharynx (human) PMID:30123088|REF_RGD_ID:149735327 12041863 JAK2 Janus kinase 2 gene DOID:9452 fatty liver disease ISO RGD:10823 D RGD:9068941 20200609 RGD PMID:22275361|REF_RGD_ID:6483019 12041863 JAK2 Janus kinase 2 gene DOID:9970 obesity ISO RGD:2939 D RGD:9068941 20200609 RGD protein:decreased expression:hypothalamus PMID:23397595|REF_RGD_ID:10411893 12041863 JAK2 Janus kinase 2 gene DOID:9970 obesity ISO RGD:731748 D RGD:9068941 20200609 RGD mRNA:decreased expression:omental adipose tissue:by microarray PMID:14630696|REF_RGD_ID:1627661 12041863 Jak2 Janus kinase 2 gene DOID:3571 liver cancer severity ISO RGD:10823 D RGD:9068941 20200609 RGD mRNA:increased expression:liver,serum (human) PMID:27788478|REF_RGD_ID:18182929 12041863 Jak2 Janus kinase 2 gene DOID:3571 liver cancer severity ISO RGD:2939 D RGD:9068941 20200609 RGD mRNA:increased expression:liver,serum (human) PMID:27788478|REF_RGD_ID:18182929 12041892 ITIH1 inter-alpha-trypsin inhibitor heavy chain 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1314518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 12041892 ITIH1 inter-alpha-trypsin inhibitor heavy chain 1 gene DOID:3312 bipolar disorder ISO RGD:1314518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 12041892 ITIH1 inter-alpha-trypsin inhibitor heavy chain 1 gene DOID:630 genetic disease ISO RGD:1314518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12041892 ITIH1 inter-alpha-trypsin inhibitor heavy chain 1 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1314518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 12041892 ITIH1 inter-alpha-trypsin inhibitor heavy chain 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1314518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17114358 12041938 CPA1 carboxypeptidase A1 gene DOID:1485 cystic fibrosis ISO RGD:733563 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:23955596|PMID:25741868|PMID:28492532 12041938 CPA1 carboxypeptidase A1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12041938 CPA1 carboxypeptidase A1 gene DOID:4989 pancreatitis ISO RGD:733564 D RGD:9068941 20220825 MouseDO OMIM:167800 12041938 CPA1 carboxypeptidase A1 gene DOID:630 genetic disease ISO RGD:733563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12041938 CPA1 carboxypeptidase A1 gene DOID:9001191 Cadmium Poisoning ISO RGD:2388 D RGD:9068941 20211224 RGD protein:increased activity:small intestine (rat) PMID:15865404|REF_RGD_ID:1578424 12041938 CPA1 carboxypeptidase A1 gene DOID:9006190 Chronic Pancreatitis ISO RGD:733563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23955596 12041938 CPA1 carboxypeptidase A1 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:733563 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:16199547|PMID:17576681|PMID:23955596|PMID:24522117|PMID:25741868|PMID:26658419|PMID:27449771|PMID:28166811|PMID:28492532|PMID:28497564|PMID:28861620|PMID:29669919|PMID:30045879|PMID:30862690|PMID:30883245|PMID:9536098 12041952 MICB MHC class I polypeptide-related sequence B gene DOID:0050553 JMP syndrome ISO RGD:1354237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12041952 MICB MHC class I polypeptide-related sequence B gene DOID:11372 megacolon ISO RGD:1354237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12041952 MICB MHC class I polypeptide-related sequence B gene DOID:12206 dengue hemorrhagic fever ISO RGD:1354237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22001756 12041952 MICB MHC class I polypeptide-related sequence B gene DOID:630 genetic disease ISO RGD:1354237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12041965 MAML3 mastermind like transcriptional coactivator 3 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1317803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12041965 MAML3 mastermind like transcriptional coactivator 3 gene DOID:0080799 sinonasal undifferentiated carcinoma ISO RGD:1317803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24859338 12041965 MAML3 mastermind like transcriptional coactivator 3 gene DOID:1115 sarcoma ISO RGD:1317803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24859338 12041965 MAML3 mastermind like transcriptional coactivator 3 gene DOID:1682 congenital heart disease ISO RGD:1317803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23708190 12041965 MAML3 mastermind like transcriptional coactivator 3 gene DOID:630 genetic disease ISO RGD:1317803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12041974 METTL15 methyltransferase 15, mitochondrial 12S rRNA N4-cytidine gene DOID:1059 intellectual disability ISO RGD:1604216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12041974 METTL15 methyltransferase 15, mitochondrial 12S rRNA N4-cytidine gene DOID:630 genetic disease ISO RGD:1604216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12041989 CTCF CCCTC-binding factor gene DOID:0050671 female breast cancer disease_progression ISO RGD:733105 D RGD:9068941 20220211 RGD protein:altered expression:breast (human) PMID:32435142|REF_RGD_ID:151356743 12041989 CTCF CCCTC-binding factor gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:733105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 12041989 CTCF CCCTC-binding factor gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:733105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 12041989 CTCF CCCTC-binding factor gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:733105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12041989 CTCF CCCTC-binding factor gene DOID:0070051 autosomal dominant intellectual developmental disorder 21 ISO RGD:733105 D RGD:7240710 20180130 OMIM 12041989 CTCF CCCTC-binding factor gene DOID:0070051 autosomal dominant intellectual developmental disorder 21 ISO RGD:733105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome PMID:23746550|PMID:25533962|PMID:25741868|PMID:28135719|PMID:28191890|PMID:28492532|PMID:28529057|PMID:29076501|PMID:30893510|PMID:31239556|PMID:31785789|PMID:33004838|PMID:33644862|PMID:34374989|PMID:34657170 12041989 CTCF CCCTC-binding factor gene DOID:0080144 childhood acute lymphocytic leukemia disease_progression ISO RGD:733105 D RGD:9068941 20220217 RGD mRNA, protein:increased expression:bone marrow, blood (human) PMID:24393203|REF_RGD_ID:151356757 12041989 CTCF CCCTC-binding factor gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:733105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome PMID:27993330 12041989 CTCF CCCTC-binding factor gene DOID:1059 intellectual disability ISO RGD:733105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12041989 CTCF CCCTC-binding factor gene DOID:1612 breast cancer severity ISO RGD:733105 D RGD:9068941 20220217 RGD protein:alternative form, increased expression:breast tumor (human) PMID:19737964|REF_RGD_ID:151356756 12041989 CTCF CCCTC-binding factor gene DOID:2513 basal cell carcinoma ISO RGD:733105 D RGD:9068941 20220210 RGD DNA:mutations:multiple (human) PMID:27974201|REF_RGD_ID:151356739 12041989 CTCF CCCTC-binding factor gene DOID:3151 skin squamous cell carcinoma ISO RGD:733105 D RGD:9068941 20220210 RGD DNA:mutations:multiple (human) PMID:27974201|REF_RGD_ID:151356739 12041989 CTCF CCCTC-binding factor gene DOID:3459 breast carcinoma ISO RGD:733105 D RGD:9068941 20220217 RGD protein:altered expression:breast tumor (human) PMID:15354217|REF_RGD_ID:151356910 12041989 CTCF CCCTC-binding factor gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:733105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28671688 12041989 CTCF CCCTC-binding factor gene DOID:630 genetic disease ISO RGD:733105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18654629|PMID:19563753|PMID:22354838|PMID:23746550|PMID:25533962|PMID:25741868|PMID:28135719|PMID:28191890|PMID:28492532|PMID:28529057|PMID:28619046|PMID:30893510|PMID:31239556|PMID:31785789|PMID:33004838|PMID:33644862|PMID:34374989 12041989 CTCF CCCTC-binding factor gene DOID:8923 skin melanoma ISO RGD:733105 D RGD:9068941 20220210 RGD DNA:mutations:multiple (human) PMID:27974201|REF_RGD_ID:151356739 12041989 CTCF CCCTC-binding factor gene DOID:9002170 Experimental Neoplasms ISO RGD:733105 D RGD:9068941 20220217 RGD human breast cancer cells in mouse model PMID:21896759|REF_RGD_ID:151356745 12041989 CTCF CCCTC-binding factor gene DOID:9007748 Retinal Neovascularization ISO RGD:733106 D RGD:9068941 20220217 RGD PMID:21896759|REF_RGD_ID:151356745 12042006 MAPK10 mitogen-activated protein kinase 10 gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:733441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly and epileptic encephalopathy PMID:16249883 12042006 MAPK10 mitogen-activated protein kinase 10 gene DOID:10283 prostate cancer ISO RGD:733441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12042006 MAPK10 mitogen-activated protein kinase 10 gene DOID:10652 Alzheimer's disease ISO RGD:733441 D RGD:9068941 20200609 RGD protein:increased expression:CA1 field of hippocampus: PMID:11208906|REF_RGD_ID:10412676 12042006 MAPK10 mitogen-activated protein kinase 10 gene DOID:4074 pancreatic adenocarcinoma severity ISO RGD:733441 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs2589506) (human) 12042006 MAPK10 mitogen-activated protein kinase 10 gene DOID:6000 congestive heart failure ISO RGD:733441 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12042006 MAPK10 mitogen-activated protein kinase 10 gene DOID:630 genetic disease ISO RGD:733441 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12042006 MAPK10 mitogen-activated protein kinase 10 gene DOID:9001793 Generalized Epilepsy ISO RGD:733441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 12042006 MAPK10 mitogen-activated protein kinase 10 gene DOID:9008006 Childhood-Onset Neurodegeneration with Brain Atrophy ISO RGD:733441 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY PMID:25741868 12042064 CCDC120 coiled-coil domain containing 120 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1606197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early onset epileptic encephalopathy PMID:26173968 12042064 CCDC120 coiled-coil domain containing 120 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12042064 CCDC120 coiled-coil domain containing 120 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1606197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12042064 CCDC120 coiled-coil domain containing 120 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1606197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12042064 CCDC120 coiled-coil domain containing 120 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1606197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12042064 CCDC120 coiled-coil domain containing 120 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1606197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12042064 CCDC120 coiled-coil domain containing 120 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1606197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12042064 CCDC120 coiled-coil domain containing 120 gene DOID:12849 autistic disorder ISO RGD:1606197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12042064 CCDC120 coiled-coil domain containing 120 gene DOID:630 genetic disease ISO RGD:1606197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12042064 CCDC120 coiled-coil domain containing 120 gene DOID:9007661 Dwarfism ISO RGD:1606197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12042115 SLC12A3 solute carrier family 12 member 3 gene DOID:0050450 Gitelman syndrome ISO RGD:733325 D RGD:7240710 20180130 OMIM 12042115 SLC12A3 solute carrier family 12 member 3 gene DOID:0050450 Gitelman syndrome ISO RGD:733325 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia PMID:10516289|PMID:10561140|PMID:10616841|PMID:10988270|PMID:11168953|PMID:11408395|PMID:11532083|PMID:11940055|PMID:12008755|PMID:12039972|PMID:12112667|PMID:12185467|PMID:12483017|PMID:12704198|PMID:12772080|PMID:12911530|PMID:14655226|PMID:14675033|PMID:14766743|PMID:15002785|PMID:15069170|PMID:15102966|PMID:15198479|PMID:15206555|PMID:15309683|PMID:15687331|PMID:15824853|PMID:15976513|PMID:16199547|PMID:16221718|PMID:16370563|PMID:16471174|PMID:16801039|PMID:16837915|PMID:16932456|PMID:16966826|PMID:17044667|PMID:17059986|PMID:17159356|PMID:17329572|PMID:17414160|PMID:17460608|PMID:17511264|PMID:17576681|PMID:17654016|PMID:17699451|PMID:17873326|PMID:17885550|PMID:18033047|PMID:18270262|PMID:18287808|PMID:18344243|PMID:18362449|PMID:18391953|PMID:18402569|PMID:18580052|PMID:19016647|PMID:19033254|PMID:19207868|PMID:19349556|PMID:19420906|PMID:19451210|PMID:19489442|PMID:19508680|PMID:19668106|PMID:20072789|PMID:20552229|PMID:20675610|PMID:20810575|PMID:20848653|PMID:20981092|PMID:21051746|PMID:21157372|PMID:21256383|PMID:21342329|PMID:21415153|PMID:21628937|PMID:21631963|PMID:21654754|PMID:21753071|PMID:21757836|PMID:22009145|PMID:22169961|PMID:22214629|PMID:22241817|PMID:22245519|PMID:22484642|PMID:22627394|PMID:22679066|PMID:22728489|PMID:22802996|PMID:22934535|PMID:22990302|PMID:23328711|PMID:23475471|PMID:23698802|PMID:23756661|PMID:23833262|PMID:24033266|PMID:24696311|PMID:24759409|PMID:24776766|PMID:24790334|PMID:24825090|PMID:24830959|PMID:25012174|PMID:25112827|PMID:25140267|PMID:25165177|PMID:25422309|PMID:25525159|PMID:25741868|PMID:25741907|PMID:25815233|PMID:25838649|PMID:25841442|PMID:25852896|PMID:25990047|PMID:26041598|PMID:26121437|PMID:26221292|PMID:26260218|PMID:26306968|PMID:26467025|PMID:26484179|PMID:26633545|PMID:26770037|PMID:26825084|PMID:26830254|PMID:26921350|PMID:26990548|PMID:27007659|PMID:27173320|PMID:27216017|PMID:27303630|PMID:27386324|PMID:27453715|PMID:27454426|PMID:27582097|PMID:27872838|PMID:28125972|PMID:28325561|PMID:28469853|PMID:28492532|PMID:28947054|PMID:29378538|PMID:29398133|PMID:29403282|PMID:29925901|PMID:29942493|PMID:29953267|PMID:30084681|PMID:30136149|PMID:30138938|PMID:30413979|PMID:30586318|PMID:30596175|PMID:31183353|PMID:31285285|PMID:31398183|PMID:31672324|PMID:32129221|PMID:32528714|PMID:32542819|PMID:32860008|PMID:33095447|PMID:33121425|PMID:33348466|PMID:33532864|PMID:33807568|PMID:34046503|PMID:34746741|PMID:34805638|PMID:8528245|PMID:8812482|PMID:8865231|PMID:8900229|PMID:8954067|PMID:9536098|PMID:9596079|PMID:9734597 12042115 SLC12A3 solute carrier family 12 member 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733325 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12042115 SLC12A3 solute carrier family 12 member 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733325 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12042115 SLC12A3 solute carrier family 12 member 3 gene DOID:10763 hypertension ISO RGD:733325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18480177 12042115 SLC12A3 solute carrier family 12 member 3 gene DOID:10825 essential hypertension ISO RGD:733325 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R904Q (human) PMID:15480096|REF_RGD_ID:1580589 12042115 SLC12A3 solute carrier family 12 member 3 gene DOID:10825 essential hypertension severity ISO RGD:733325 D RGD:9068941 20200609 RGD DNA:snp:intron:g.1784C>T (human) PMID:15824464|REF_RGD_ID:1580586 12042115 SLC12A3 solute carrier family 12 member 3 gene DOID:178 vascular disease ISO RGD:733325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23348737 12042115 SLC12A3 solute carrier family 12 member 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:733325 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12042115 SLC12A3 solute carrier family 12 member 3 gene DOID:557 kidney disease ISO RGD:733325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21865292 12042115 SLC12A3 solute carrier family 12 member 3 gene DOID:630 genetic disease ISO RGD:733325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11168953|PMID:12039972|PMID:12483017|PMID:14655226|PMID:15002785|PMID:15102966|PMID:15206555|PMID:16199547|PMID:16801039|PMID:17059986|PMID:17159356|PMID:17329572|PMID:17654016|PMID:18033047|PMID:18391953|PMID:19016647|PMID:19451210|PMID:19508680|PMID:20848653|PMID:21415153|PMID:21631963|PMID:21753071|PMID:22009145|PMID:22214629|PMID:22934535|PMID:23328711|PMID:24033266|PMID:24790334|PMID:25422309|PMID:25741868|PMID:25841442|PMID:26467025|PMID:26484179|PMID:26633545|PMID:27303630|PMID:27582097|PMID:28492532|PMID:29925901|PMID:29942493|PMID:30138938|PMID:30586318|PMID:30596175|PMID:31285285|PMID:31672324|PMID:33095447|PMID:34746741|PMID:34805638|PMID:8528245 12042115 SLC12A3 solute carrier family 12 member 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3686 D RGD:9068941 20200609 RGD protein:altered expression:kidney (rat) PMID:15956070|REF_RGD_ID:1580587 12042115 SLC12A3 solute carrier family 12 member 3 gene DOID:9005532 Muscle Weakness ISO RGD:733325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:10988270|PMID:12039972|PMID:17329572|PMID:17654016|PMID:18391953|PMID:21415153|PMID:22009145|PMID:23328711|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26921350|PMID:28492532|PMID:31672324|PMID:8528245|PMID:9734597 12042165 RPL3 ribosomal protein L3 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1345939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12042165 RPL3 ribosomal protein L3 gene DOID:305 carcinoma ISO RGD:1345939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12042165 RPL3 ribosomal protein L3 gene DOID:630 genetic disease ISO RGD:1345939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12042165 RPL3 ribosomal protein L3 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1345939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12042165 RPL3 ribosomal protein L3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1345939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12042182 PDC phosducin gene DOID:1540 parathyroid carcinoma ISO RGD:737392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12042182 PDC phosducin gene DOID:630 genetic disease ISO RGD:737392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12042182 PDC phosducin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12042193 UNK unk zinc finger gene DOID:630 genetic disease ISO RGD:1319446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12042221 SPTBN5 spectrin beta, non-erythrocytic 5 gene DOID:2717 Bloom syndrome ISO RGD:1322297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12042221 SPTBN5 spectrin beta, non-erythrocytic 5 gene DOID:630 genetic disease ISO RGD:1322297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12042221 SPTBN5 spectrin beta, non-erythrocytic 5 gene DOID:9256 colorectal cancer ISO RGD:1322297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12042242 LRP11 LDL receptor related protein 11 gene DOID:630 genetic disease ISO RGD:1318469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12042254 HHIP hedgehog interacting protein gene DOID:10892 hypospadias ISO RGD:1354359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31568847 12042254 HHIP hedgehog interacting protein gene DOID:12236 primary biliary cholangitis ISO RGD:1564108 D RGD:9068941 20200609 RGD mRNA:decreased expression: PMID:18375471|REF_RGD_ID:11552599 12042254 HHIP hedgehog interacting protein gene DOID:2513 basal cell carcinoma ISO RGD:1557623 D RGD:9068941 20200609 RGD mRNA:increased expression:skin: PMID:15024045|REF_RGD_ID:11552592 12042254 HHIP hedgehog interacting protein gene DOID:2513 basal cell carcinoma treatment ISO RGD:1557623 D RGD:9068941 20200609 RGD PMID:15024045|REF_RGD_ID:11552592 12042254 HHIP hedgehog interacting protein gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1354359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease, biomass related 12042254 HHIP hedgehog interacting protein gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1354359 D RGD:9068941 20200609 RGD DNA:SNP: :rs13118928(human) PMID:19996190|REF_RGD_ID:11552598 12042254 HHIP hedgehog interacting protein gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1354359 D RGD:9068941 20200609 RGD DNA:SNPs: :rs11100865, rs7654947(human) PMID:25928290|REF_RGD_ID:11552597 12042254 HHIP hedgehog interacting protein gene DOID:5082 liver cirrhosis ISO RGD:1557623 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver: PMID:19815628|REF_RGD_ID:11552602 12042254 HHIP hedgehog interacting protein gene DOID:630 genetic disease ISO RGD:1354359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12042254 HHIP hedgehog interacting protein gene DOID:684 hepatocellular carcinoma ISO RGD:1354359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18559595 12042254 HHIP hedgehog interacting protein gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:1564108 D RGD:9068941 20200609 RGD PMID:19515211|REF_RGD_ID:11552601 12042254 HHIP hedgehog interacting protein gene DOID:9008443 Colorectal Neoplasms ISO RGD:1354359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 12042254 HHIP hedgehog interacting protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12042254 HHIP hedgehog interacting protein gene DOID:9675 pulmonary emphysema ISO RGD:1557623 D RGD:9068941 20200609 RGD DNA:haplotype insufficiency: : PMID:25763110|REF_RGD_ID:11552596 12042254 HHIP hedgehog interacting protein gene DOID:9743 diabetic neuropathy ISO RGD:1564108 D RGD:9068941 20200609 RGD PMID:19515211|REF_RGD_ID:11552601 12042271 P3H2 prolyl 3-hydroxylase 2 gene DOID:10584 retinitis pigmentosa ISO RGD:1312081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532|PMID:31456290 12042271 P3H2 prolyl 3-hydroxylase 2 gene DOID:5295 intestinal disease ISO RGD:12184798 D RGD:9068941 20220128 OMIA Lundehund syndrome PMID:25860808|PMID:27485430|PMID:7946268|PMID:853728 12042271 P3H2 prolyl 3-hydroxylase 2 gene DOID:5419 schizophrenia ISO RGD:1312081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12042271 P3H2 prolyl 3-hydroxylase 2 gene DOID:630 genetic disease ISO RGD:1312081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12042271 P3H2 prolyl 3-hydroxylase 2 gene DOID:9005145 High Myopia with Cataract and Vitreoretinal Degeneration ISO RGD:1312081 D RGD:7240710 20180130 OMIM 12042271 P3H2 prolyl 3-hydroxylase 2 gene DOID:9005145 High Myopia with Cataract and Vitreoretinal Degeneration ISO RGD:1312081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopia, high, with cataract and vitreoretinal degeneration PMID:21885030|PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532|PMID:31456290 12042290 ERICH3 glutamate rich 3 gene DOID:630 genetic disease ISO RGD:1603912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12042309 PDYN prodynorphin gene DOID:0050155 sensory system disease ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19200067 12042309 PDYN prodynorphin gene DOID:0050973 spinocerebellar ataxia type 23 ISO RGD:1343954 D RGD:7240710 20180130 OMIM 12042309 PDYN prodynorphin gene DOID:0050973 spinocerebellar ataxia type 23 ISO RGD:1343954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 23 PMID:21035104|PMID:22243190|PMID:22287014|PMID:23108490|PMID:23355175|PMID:23471613|PMID:25741868|PMID:26467025|PMID:27528516|PMID:28492532 12042309 PDYN prodynorphin gene DOID:0080855 Parkinsonism ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9930741 12042309 PDYN prodynorphin gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1343954 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12042309 PDYN prodynorphin gene DOID:10914 amnestic disorder ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7768285 12042309 PDYN prodynorphin gene DOID:11162 respiratory failure ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:6662192 12042309 PDYN prodynorphin gene DOID:13580 cholestasis ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16919318 12042309 PDYN prodynorphin gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1343954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia 12042309 PDYN prodynorphin gene DOID:1574 alcohol use disorder ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17559549|PMID:18923396 12042309 PDYN prodynorphin gene DOID:3328 temporal lobe epilepsy ISO RGD:1343954 D RGD:9068941 20200609 RGD DNA:repeats:promoter: (human) PMID:11835385|REF_RGD_ID:1358556 12042309 PDYN prodynorphin gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1343954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12042309 PDYN prodynorphin gene DOID:480 movement disease ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20298714 12042309 PDYN prodynorphin gene DOID:630 genetic disease ISO RGD:1343954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 12042309 PDYN prodynorphin gene DOID:670 amphetamine abuse ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16529859 12042309 PDYN prodynorphin gene DOID:9000641 Pain ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17670969|PMID:20068450 12042309 PDYN prodynorphin gene DOID:9001443 Hypercapnia ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11311734 12042309 PDYN prodynorphin gene DOID:9002211 Hyperalgesia ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17670969 12042309 PDYN prodynorphin gene DOID:9002669 Hypoxia ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11311734 12042309 PDYN prodynorphin gene DOID:9004659 Respiration Disorders ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6131355 12042309 PDYN prodynorphin gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16184603|PMID:17559549|PMID:18575850|PMID:18923396 12042309 PDYN prodynorphin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:62054 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve, peroneal nerve, tibial nerve, footpad skin: PMID:16924480|REF_RGD_ID:9834947 12042309 PDYN prodynorphin gene DOID:9006024 Hypotension ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1676337|PMID:2536002|PMID:2566129|PMID:6131355 12042309 PDYN prodynorphin gene DOID:9006202 Pruritus ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29669290 12042309 PDYN prodynorphin gene DOID:9007001 Bradycardia ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1676337|PMID:6131355|PMID:6716269 12042309 PDYN prodynorphin gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21737418|PMID:9767399 12042309 PDYN prodynorphin gene DOID:9008675 Dyskinesias ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21984936 12042325 RHBDD3 rhomboid domain containing 3 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1323487 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 12042325 RHBDD3 rhomboid domain containing 3 gene DOID:303 substance-related disorder ISO RGD:1323487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12042325 RHBDD3 rhomboid domain containing 3 gene DOID:630 genetic disease ISO RGD:1323487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12042325 RHBDD3 rhomboid domain containing 3 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1323487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 12042347 ZFP62 ZFP62 zinc finger protein gene DOID:630 genetic disease ISO RGD:1353379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12042450 PCGF2 polycomb group ring finger 2 gene DOID:1059 intellectual disability ISO RGD:1352511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:15525528|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942 12042450 PCGF2 polycomb group ring finger 2 gene DOID:630 genetic disease ISO RGD:1352511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15525528|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942 12042450 PCGF2 polycomb group ring finger 2 gene DOID:9001203 Turnpenny-Fry Syndrome ISO RGD:1352511 D RGD:7240710 20190424 OMIM 12042450 PCGF2 polycomb group ring finger 2 gene DOID:9001203 Turnpenny-Fry Syndrome ISO RGD:1352511 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Turnpenny-fry syndrome PMID:15525528|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942 12042450 PCGF2 polycomb group ring finger 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1352511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:15525528|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942 12042472 SIKE1 suppressor of IKBKE 1 gene DOID:0080690 RASopathy ISO RGD:1602207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12042472 SIKE1 suppressor of IKBKE 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1602207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 12042472 SIKE1 suppressor of IKBKE 1 gene DOID:630 genetic disease ISO RGD:1602207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12042484 TRIM8 tripartite motif containing 8 gene DOID:0050701 electroclinical syndrome ISO RGD:1319835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TRIM8-related epileptic encephalopathy PMID:25741868|PMID:30244534|PMID:33508234 12042484 TRIM8 tripartite motif containing 8 gene DOID:1826 epilepsy ISO RGD:1319835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:30244534|PMID:32193649|PMID:33508234 12042484 TRIM8 tripartite motif containing 8 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1319835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:12068298|PMID:22508808|PMID:25403219|PMID:28492532|PMID:31639285 12042484 TRIM8 tripartite motif containing 8 gene DOID:630 genetic disease ISO RGD:1319835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30244534|PMID:33508234 12042484 TRIM8 tripartite motif containing 8 gene DOID:9001434 Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome ISO RGD:1319835 D RGD:7240710 20210818 OMIM 12042484 TRIM8 tripartite motif containing 8 gene DOID:9001434 Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome ISO RGD:1319835 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis and neurodevelopmental syndrome PMID:25741868|PMID:27346735|PMID:30244534|PMID:32193649|PMID:32531461|PMID:33508234|PMID:34930159 12042494 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:0060041 autism spectrum disorder ISO RGD:737237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:25920557|PMID:25944381|PMID:28053047|PMID:28492532|PMID:29034068 12042494 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:737237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12042494 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:737237 D RGD:7240710 20180130 OMIM 12042494 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:737237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 7 | ClinVar Annotator: match by term: Intellectual disability syndrome due to a DYRK1A point mutation PMID:16199547|PMID:17237124|PMID:17576681|PMID:18414213|PMID:21204217|PMID:21294719|PMID:23099646|PMID:23160955|PMID:23512985|PMID:24033266|PMID:24088041|PMID:25167861|PMID:25326635|PMID:25533962|PMID:25641759|PMID:25707398|PMID:25741868|PMID:25741883|PMID:25920557|PMID:25944381|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26795593|PMID:26922654|PMID:27241786|PMID:28053047|PMID:28167836|PMID:28191889|PMID:28191890|PMID:28492532|PMID:28496994|PMID:28708303|PMID:29034068|PMID:31130284|PMID:31785789|PMID:31803247|PMID:32555303|PMID:32581362|PMID:32860008|PMID:32959227|PMID:33004838|PMID:33624935|PMID:34008892|PMID:34253714|PMID:34345024|PMID:35598272|PMID:9536098 12042494 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:1059 intellectual disability ISO RGD:737237 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23099646|PMID:24088041|PMID:25167861|PMID:25326635|PMID:25641759|PMID:25707398|PMID:25741868|PMID:25920557|PMID:25944381|PMID:26633545|PMID:28053047|PMID:28492532|PMID:29034068|PMID:32581362 12042494 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:1059 intellectual disability ISO RGD:737237 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:23099646|PMID:24088041|PMID:25167861|PMID:25326635|PMID:25641759|PMID:25707398|PMID:25741868|PMID:25920557|PMID:25944381|PMID:26633545|PMID:28492532|PMID:32581362|PMID:9536098 12042494 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:1059 intellectual disability ISO RGD:737237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:23099646|PMID:24088041|PMID:25167861|PMID:25326635|PMID:25641759|PMID:25707398|PMID:25741868|PMID:25920557|PMID:25944381|PMID:26633545|PMID:28053047|PMID:28492532|PMID:29034068|PMID:32581362|PMID:34345024|PMID:9536098 12042494 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:10629 microphthalmia ISO RGD:737237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microphthalmia PMID:25167861|PMID:25326635|PMID:25641759|PMID:25741868|PMID:25920557|PMID:25944381|PMID:28492532|PMID:32581362 12042494 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:10907 microcephaly ISO RGD:737237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25167861|PMID:25326635|PMID:25641759|PMID:25741868|PMID:25920557|PMID:25944381|PMID:28492532|PMID:32581362 12042494 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:11175 enophthalmos ISO RGD:737237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Enophthalmos PMID:25167861|PMID:25326635|PMID:25641759|PMID:25741868|PMID:25920557|PMID:25944381|PMID:28492532|PMID:32581362 12042494 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:14250 Down syndrome ISO RGD:10495 D RGD:9068941 20220825 MouseDO OMIM:190685 12042494 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:14250 Down syndrome ISO RGD:737237 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:18696092|REF_RGD_ID:14974029 12042494 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:14250 Down syndrome treatment ISO RGD:10495 D RGD:9068941 20200609 RGD PMID:23220201|PMID:28647555|REF_RGD_ID:14973377|REF_RGD_ID:14974030 12042494 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:1793 pancreatic cancer ISO RGD:737237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31838052 12042494 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:1826 epilepsy ISO RGD:737237 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:18414213|PMID:25326635|PMID:25741868|PMID:25920557|PMID:28053047|PMID:28191890|PMID:28492532 12042494 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:1826 epilepsy ISO RGD:737237 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Generalized-onset seizure | ClinVar Annotator: match by term: Seizure PMID:18414213|PMID:25167861|PMID:25326635|PMID:25641759|PMID:25741868|PMID:25920557|PMID:25944381|PMID:28053047|PMID:28191890|PMID:28492532|PMID:29034068|PMID:32581362 12042494 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:630 genetic disease ISO RGD:737237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25167861|PMID:25326635|PMID:25641759|PMID:25707398|PMID:25730262|PMID:25741868|PMID:25920557|PMID:25944381|PMID:26467025|PMID:26633542|PMID:26795593|PMID:28053047|PMID:28191889|PMID:28191890|PMID:28492532|PMID:28496994|PMID:31785789|PMID:32581362|PMID:33004838|PMID:34345024 12042494 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889|PMID:29942082 12042494 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:737237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:17576681|PMID:24088041|PMID:25326635|PMID:25741868|PMID:25920557|PMID:25944381|PMID:26633545|PMID:26795593|PMID:26922654|PMID:27241786|PMID:28053047|PMID:28191889|PMID:28191890|PMID:28492532|PMID:32860008|PMID:33004838|PMID:9536098 12042494 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:9007 sudden infant death syndrome ISO RGD:737237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868 12042494 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:9007956 Febrile Seizures susceptibility ISO RGD:10495 D RGD:9068941 20200609 RGD PMID:29223763|REF_RGD_ID:27095962 12042494 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:9008086 Developmental Disabilities ISO RGD:737237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25167861|PMID:25326635|PMID:25641759|PMID:25741868|PMID:25741883|PMID:25920557|PMID:25944381|PMID:28492532|PMID:32581362 12042525 FUT11 fucosyltransferase 11 gene DOID:630 genetic disease ISO RGD:735764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12042546 SHISAL2B shisa like 2B gene DOID:630 genetic disease ISO RGD:2293813 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12042546 SHISAL2B shisa like 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2293813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12042560 TXNRD2 thioredoxin reductase 2 gene DOID:0050700 cardiomyopathy ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy PMID:28492532 12042560 TXNRD2 thioredoxin reductase 2 gene DOID:0050700 cardiomyopathy ISO RGD:1606823 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy PMID:25741868|PMID:28492532 12042560 TXNRD2 thioredoxin reductase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12042560 TXNRD2 thioredoxin reductase 2 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1606823 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12042560 TXNRD2 thioredoxin reductase 2 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1606823 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12042560 TXNRD2 thioredoxin reductase 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 12042560 TXNRD2 thioredoxin reductase 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28492532 12042560 TXNRD2 thioredoxin reductase 2 gene DOID:0111996 immunodeficiency 51 ISO RGD:1606823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12042560 TXNRD2 thioredoxin reductase 2 gene DOID:1059 intellectual disability ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12042560 TXNRD2 thioredoxin reductase 2 gene DOID:1067 open-angle glaucoma ISO RGD:1606823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26752265 12042560 TXNRD2 thioredoxin reductase 2 gene DOID:11198 DiGeorge syndrome ISO RGD:1606823 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12042560 TXNRD2 thioredoxin reductase 2 gene DOID:11372 megacolon ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12042560 TXNRD2 thioredoxin reductase 2 gene DOID:12583 velocardiofacial syndrome ISO RGD:1606823 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12042560 TXNRD2 thioredoxin reductase 2 gene DOID:12849 autistic disorder ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12042560 TXNRD2 thioredoxin reductase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17576681|PMID:21247928|PMID:24601690|PMID:25741868|PMID:26300845|PMID:28074886|PMID:28166811|PMID:28416588|PMID:28492532|PMID:31712860|PMID:31983221|PMID:9536098 12042560 TXNRD2 thioredoxin reductase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1606823 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17576681|PMID:21247928|PMID:24601690|PMID:25741868|PMID:26300845|PMID:28074886|PMID:28416588|PMID:28492532|PMID:31712860|PMID:31983221|PMID:9536098 12042560 TXNRD2 thioredoxin reductase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1606823 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17576681|PMID:21247928|PMID:24601690|PMID:25741868|PMID:26300845|PMID:28074886|PMID:28416588|PMID:28492532|PMID:31712860|PMID:31983221|PMID:32257832|PMID:9536098 12042560 TXNRD2 thioredoxin reductase 2 gene DOID:1826 epilepsy ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12042560 TXNRD2 thioredoxin reductase 2 gene DOID:2213 hemorrhagic disease ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 12042560 TXNRD2 thioredoxin reductase 2 gene DOID:3070 high grade glioma ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12042560 TXNRD2 thioredoxin reductase 2 gene DOID:5419 schizophrenia ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12042560 TXNRD2 thioredoxin reductase 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12042560 TXNRD2 thioredoxin reductase 2 gene DOID:630 genetic disease ISO RGD:1606823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12042560 TXNRD2 thioredoxin reductase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21716162 12042560 TXNRD2 thioredoxin reductase 2 gene DOID:9003871 Venous Thrombosis ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 12042560 TXNRD2 thioredoxin reductase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:61960 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex PMID:19128823|REF_RGD_ID:5685030 12042560 TXNRD2 thioredoxin reductase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12042560 TXNRD2 thioredoxin reductase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61960 D RGD:9068941 20200609 RGD mRNA:altered expression:myocardium (rat) PMID:20571744|REF_RGD_ID:5133714 12042560 TXNRD2 thioredoxin reductase 2 gene DOID:9007661 Dwarfism ISO RGD:1606823 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12042560 TXNRD2 thioredoxin reductase 2 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1606823 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12042560 TXNRD2 thioredoxin reductase 2 gene DOID:9009066 Glucocorticoid Deficiency 5 ISO RGD:1606823 D RGD:7240710 20190315 OMIM 12042560 TXNRD2 thioredoxin reductase 2 gene DOID:9009066 Glucocorticoid Deficiency 5 ISO RGD:1606823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glucocorticoid deficiency 5 PMID:16199547|PMID:21247928|PMID:24601690|PMID:25741868|PMID:26300845|PMID:28416588|PMID:28492532|PMID:31712860|PMID:31983221 12042591 SLC23A1 solute carrier family 23 member 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1342862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12042591 SLC23A1 solute carrier family 23 member 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1342862 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12042591 SLC23A1 solute carrier family 23 member 1 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1342862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 12042591 SLC23A1 solute carrier family 23 member 1 gene DOID:11162 respiratory failure ISO RGD:1342862 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11984597 12042591 SLC23A1 solute carrier family 23 member 1 gene DOID:13580 cholestasis ISO RGD:1342862 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18706437 12042591 SLC23A1 solute carrier family 23 member 1 gene DOID:630 genetic disease ISO RGD:1342862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12042591 SLC23A1 solute carrier family 23 member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342862 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12042591 SLC23A1 solute carrier family 23 member 1 gene DOID:9003104 Intracranial Hemorrhages ISO RGD:1342862 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11984597 12042591 SLC23A1 solute carrier family 23 member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12042591 SLC23A1 solute carrier family 23 member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1342862 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12042616 PBX3 PBX homeobox 3 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1316248 D RGD:9068941 20220902 RGD RNA:increased expression:esophagus squamous epithelium (human) PMID:32449803|REF_RGD_ID:153345544 12042616 PBX3 PBX homeobox 3 gene DOID:630 genetic disease ISO RGD:1316248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12042616 PBX3 PBX homeobox 3 gene DOID:9008565 Congenital Heart Defects, Multiple Types ISO RGD:1316248 D RGD:9068941 20221027 RGD DNA:missense mutation:CDS:pAla136Val (human) PMID:22426282|REF_RGD_ID:155630639 12042635 MAPKAP1 MAPK associated protein 1 gene DOID:630 genetic disease ISO RGD:1313344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12042664 LETMD1 LETM1 domain containing 1 gene DOID:1612 breast cancer ISO RGD:1344708 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:19208263|REF_RGD_ID:2314917 12042664 LETMD1 LETM1 domain containing 1 gene DOID:363 uterine cancer ISO RGD:1344708 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix PMID:12879013|REF_RGD_ID:2314918 12042664 LETMD1 LETM1 domain containing 1 gene DOID:4001 ovarian carcinoma ISO RGD:1344708 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ovary PMID:12879013|REF_RGD_ID:2314918 12042664 LETMD1 LETM1 domain containing 1 gene DOID:4451 renal carcinoma ISO RGD:1344708 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:12879013|REF_RGD_ID:2314918 12042664 LETMD1 LETM1 domain containing 1 gene DOID:5517 stomach carcinoma ISO RGD:1344708 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:stomach PMID:12879013|REF_RGD_ID:2314918 12042664 LETMD1 LETM1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1344708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12042691 LOC100990946 group 10 secretory phospholipase A2 gene DOID:630 genetic disease ISO RGD:736427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12042699 CLASRP CLK4 associating serine/arginine rich protein gene DOID:630 genetic disease ISO RGD:1347770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12042726 RAB8A RAB8A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1354512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12042726 RAB8A RAB8A, member RAS oncogene family gene DOID:7148 rheumatoid arthritis ISO RGD:1354512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 12042739 CTSE cathepsin E gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:736046 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12042739 CTSE cathepsin E gene DOID:10283 prostate cancer ISO RGD:736046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12042739 CTSE cathepsin E gene DOID:12849 autistic disorder ISO RGD:736046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12042739 CTSE cathepsin E gene DOID:1540 parathyroid carcinoma ISO RGD:736046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12042739 CTSE cathepsin E gene DOID:3310 atopic dermatitis ISO RGD:10422 D RGD:9068941 20220825 MouseDO OMIM:603165 12042739 CTSE cathepsin E gene DOID:630 genetic disease ISO RGD:736046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12042739 CTSE cathepsin E gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12042739 CTSE cathepsin E gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736046 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12042739 CTSE cathepsin E gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12042739 CTSE cathepsin E gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12042758 IQCJ IQ motif containing J gene DOID:630 genetic disease ISO RGD:1605141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12042777 LOC103785277 zinc finger protein 433 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1345946 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12042777 LOC103785277 zinc finger protein 433 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1345946 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12042777 LOC103785277 zinc finger protein 433 gene DOID:0111254 glutaric acidemia I ISO RGD:1345946 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12042777 LOC103785277 zinc finger protein 433 gene DOID:3413 alpha-mannosidosis ISO RGD:1345946 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12042777 LOC103785277 zinc finger protein 433 gene DOID:630 genetic disease ISO RGD:1345946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12042806 BTF3 basic transcription factor 3 gene DOID:630 genetic disease ISO RGD:1317667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12042806 BTF3 basic transcription factor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12042819 SAXO2 stabilizer of axonemal microtubules 2 gene DOID:2717 Bloom syndrome ISO RGD:1606117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12042819 SAXO2 stabilizer of axonemal microtubules 2 gene DOID:630 genetic disease ISO RGD:1606117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12042819 SAXO2 stabilizer of axonemal microtubules 2 gene DOID:9256 colorectal cancer ISO RGD:1606117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12042820 JPH4 junctophilin 4 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1315305 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12042820 JPH4 junctophilin 4 gene DOID:0080600 COVID-19 ISO RGD:1315305 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12042820 JPH4 junctophilin 4 gene DOID:630 genetic disease ISO RGD:1315305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12042820 JPH4 junctophilin 4 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1315305 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12042820 JPH4 junctophilin 4 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1315305 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12042844 KPRP keratinocyte proline rich protein gene DOID:0111940 immunodeficiency 42 ISO RGD:1353027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12042844 KPRP keratinocyte proline rich protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1353027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12042844 KPRP keratinocyte proline rich protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1353027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12042844 KPRP keratinocyte proline rich protein gene DOID:10283 prostate cancer ISO RGD:1353027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12042844 KPRP keratinocyte proline rich protein gene DOID:1540 parathyroid carcinoma ISO RGD:1353027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12042844 KPRP keratinocyte proline rich protein gene DOID:5812 MHC class II deficiency ISO RGD:1353027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12042844 KPRP keratinocyte proline rich protein gene DOID:630 genetic disease ISO RGD:1353027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12042844 KPRP keratinocyte proline rich protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12042851 CSNK1D casein kinase 1 delta gene DOID:0110011 advanced sleep phase syndrome 1 ISO RGD:733311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12042851 CSNK1D casein kinase 1 delta gene DOID:0110012 advanced sleep phase syndrome 2 ISO RGD:733311 D RGD:7240710 20180130 OMIM 12042851 CSNK1D casein kinase 1 delta gene DOID:0110012 advanced sleep phase syndrome 2 ISO RGD:733311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Advanced sleep phase syndrome 2 PMID:15800623|PMID:23636092 12042851 CSNK1D casein kinase 1 delta gene DOID:10652 Alzheimer's disease ISO RGD:733311 D RGD:9068941 20200609 RGD protein:increased expression:CA1 field of hippocampus: PMID:10514399|REF_RGD_ID:10395229 12042851 CSNK1D casein kinase 1 delta gene DOID:10652 Alzheimer's disease severity ISO RGD:733311 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brain: PMID:10814741|REF_RGD_ID:10395230 12042851 CSNK1D casein kinase 1 delta gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:735980 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:0050685 small cell carcinoma susceptibility ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:SNP:exon:609C>T (human) PMID:11679176|REF_RGD_ID:5135003 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:0050855 renal fibrosis treatment ISO RGD:10473 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:23056222|REF_RGD_ID:11035221 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:0050908 myelodysplastic syndrome no_association ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:609C>T (p.P187S) (human) PMID:23643325|REF_RGD_ID:10769356 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:735868 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:0070004 myeloid neoplasm ISO RGD:10473 D RGD:9068941 20200609 RGD PMID:18829548|REF_RGD_ID:10769354 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:735868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:0070355 overactive bladder syndrome treatment ISO RGD:2503 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries PMID:28954467|REF_RGD_ID:13434913 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29289645 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28932253|REF_RGD_ID:13434914 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:0080666 warfarin sensitivity ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27581200 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:10763 hypertension treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:21502369|REF_RGD_ID:11035215 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:10976 membranous glomerulonephritis treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28711658|REF_RGD_ID:13439719 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:11054 urinary bladder cancer ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8631603 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:11054 urinary bladder cancer treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:21213404|REF_RGD_ID:10401939 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:11832 visual epilepsy ISO RGD:2503 D RGD:9068941 20200609 RGD protein:increased activity:brain PMID:14991562|REF_RGD_ID:5133254 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:1240 leukemia ISO RGD:735868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukemia, post-chemotherapy, susceptibility to PMID:10393869|PMID:10393963|PMID:1737339|PMID:18511948|PMID:21964527|PMID:6933553|PMID:9000600|PMID:9230185|PMID:9328142|PMID:9593466|PMID:9855009 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:1240 leukemia no_association ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:SNP: :609C>T (human) PMID:15382274|REF_RGD_ID:10769351 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:12554 hemolytic-uremic syndrome ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12588957 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:1289 neurodegenerative disease treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28620296|REF_RGD_ID:13439721 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:13580 cholestasis ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22461449 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:13580 cholestasis treatment ISO RGD:10473 D RGD:9068941 20200609 RGD PMID:28337145|REF_RGD_ID:13439750 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:13580 cholestasis treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28337145|REF_RGD_ID:13439750 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:14330 Parkinson's disease ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17188257 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:14566 disease of cellular proliferation ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8375015 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:14654 prostatitis treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28844677|REF_RGD_ID:13434918 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:1596 depressive disorder treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28763303|REF_RGD_ID:13439713 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:1612 breast cancer ISO RGD:735868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, post-chemotherapy poor survival in PMID:10393869|PMID:10393963|PMID:1737339|PMID:18511948|PMID:21964527|PMID:6933553|PMID:9000600|PMID:9230185|PMID:9328142|PMID:9593466|PMID:9855009 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:1824 status epilepticus treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28386312|REF_RGD_ID:13439740 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:219 colon cancer ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:19424637|REF_RGD_ID:5133247 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:224 transient cerebral ischemia ISO RGD:2503 D RGD:9068941 20200609 RGD protein:increased expression:brain (rat) PMID:28552673|REF_RGD_ID:13439727 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:224 transient cerebral ischemia ISO RGD:2503 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:28169530|REF_RGD_ID:13442499 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:29017857|REF_RGD_ID:13439718 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:2615 papilloma ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9496914 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:2773 contact dermatitis ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:2841 asthma ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20049212 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:2841 asthma ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:SNP:exon:c. 609C>T (human) PMID:19027876|REF_RGD_ID:5135006 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:2841 asthma susceptibility ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:SNP:exon:c.609C>T (human) PMID:19591959|REF_RGD_ID:5135005 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:3021 acute kidney failure ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26723870 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:3021 acute kidney failure treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28230744|REF_RGD_ID:13440091 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735868 D RGD:9068941 20200609 RGD protein, mRNA:decreased expression:lung PMID:18556627|REF_RGD_ID:5134980 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:polymorphisms: :465C>T, 609C>T (human) PMID:19705749|REF_RGD_ID:5133267 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:10473 D RGD:9068941 20200609 RGD PMID:28790194|REF_RGD_ID:13439712 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28790194|REF_RGD_ID:13439712 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:2503 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:21120604|REF_RGD_ID:5133239 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:25069640|REF_RGD_ID:11035212 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:3602 toxic encephalopathy ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20849151 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:3905 lung carcinoma ISO RGD:735868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:10393869|PMID:10393963|PMID:1737339|PMID:18511948|PMID:21964527|PMID:6933553|PMID:9000600|PMID:9230185|PMID:9328142|PMID:9593466|PMID:9855009 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21479364|PMID:9865924 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:polymorphism:cds: 609 C>T (human) PMID:19596483|REF_RGD_ID:5133268 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:21479364|REF_RGD_ID:5133265 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:3996 urinary system cancer ISO RGD:735868 D RGD:9068941 20200609 RGD Urothelial neoplasms; DNA:SNP:CDS:nucleotide 609 C/T or T/T genotype, risk increases with history of smoking and/or if combined with SULT1A1 codon 213, G/G genotype PMID:17619904|REF_RGD_ID:2301044 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:409 liver disease ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16610002|PMID:17405841 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:4195 hyperglycemia ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23458895 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:4448 macular degeneration ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:missense mutation, haplotype:cds:c.609C>T (rs1800566) (human) PMID:23276910|REF_RGD_ID:7771558 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:5082 liver cirrhosis treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:29078262|REF_RGD_ID:13442479 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:5199 ureteral obstruction ISO RGD:2503 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:20734248|REF_RGD_ID:5133246 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:557 kidney disease ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21613233 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:630 genetic disease ISO RGD:735868 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:784 chronic kidney disease treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:22227174|REF_RGD_ID:10769366 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:850 lung disease susceptibility ISO RGD:735868 D RGD:9068941 20200609 RGD acute lung injuries;DNA:SNP: :rs689455 (human) PMID:19017358|REF_RGD_ID:5134962 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:SNP: :609C>T (human) PMID:16235982|REF_RGD_ID:10769357 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:8692 myeloid leukemia ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11882782 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2503 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (rat) PMID:28881715|REF_RGD_ID:13434916 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:24747453|REF_RGD_ID:10412730 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9000046 Poisoning ISO RGD:735868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benzene toxicity, susceptibility to PMID:10393869|PMID:10393963|PMID:1737339|PMID:18511948|PMID:21964527|PMID:6933553|PMID:9000600|PMID:9230185|PMID:9328142|PMID:9593466|PMID:9855009 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9000310 Lung Injury ISO RGD:2503 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expression:lung (rat) PMID:27888691|REF_RGD_ID:13442477 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:2503 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:21259333|REF_RGD_ID:5133235 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9000998 Brain Injuries ISO RGD:2503 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:18787991|REF_RGD_ID:5134971 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9000998 Brain Injuries treatment ISO RGD:2503 D RGD:9068941 20200609 RGD associated with Subarachnoid Hemorrhage PMID:20864352|REF_RGD_ID:11035222 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2503 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (rat) PMID:27867096|REF_RGD_ID:13442478 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2503 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21457706|REF_RGD_ID:11035226 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21034357|PMID:9496914 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17507624 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9002457 Experimental Arthritis severity ISO RGD:10473 D RGD:9068941 20200609 RGD PMID:16905546|REF_RGD_ID:11073695 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:29050310|REF_RGD_ID:13442476 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9003273 Chromosome 8, Trisomy ISO RGD:735868 D RGD:9068941 20200609 RGD associated with Myeloproliferative Disorders;DNA:missense mutation:cds:609C>T (human) PMID:23643325|REF_RGD_ID:10769356 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9003709 Mercury Poisoning treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28498799|REF_RGD_ID:13439738 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9004237 Hyperoxic Lung Injury ISO RGD:1551869 D RGD:9068941 20200609 RGD PMID:16678022|REF_RGD_ID:10769360 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:24669282|PMID:28065220|REF_RGD_ID:11035223|REF_RGD_ID:13442501 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:2503 D RGD:9068941 20200609 RGD associated with Hypertension PMID:22990325|REF_RGD_ID:11035227 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9004786 Carbon Tetrachloride Poisoning treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:23684718|REF_RGD_ID:11035220 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:SNP: :609C>T (human) PMID:12018106|REF_RGD_ID:10769350 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9005172 Lung Neoplasms susceptibility ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:polymorphism: : 609C>T (human) PMID:15781212|REF_RGD_ID:5134987 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9005172 Lung Neoplasms susceptibility ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:polymorphism:cds: PMID:18798003|REF_RGD_ID:5134963 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9005463 Occupational Diseases ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15576619|PMID:15727169|PMID:17178637|PMID:9230185 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23458895 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9005729 Chronic Experimental Pancreatitis treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:22359633|REF_RGD_ID:11035224 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:21545725|REF_RGD_ID:11035217 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:21781312|REF_RGD_ID:6771212 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:10473 D RGD:9068941 20200609 RGD PMID:28472605|PMID:29091898|REF_RGD_ID:13439739|REF_RGD_ID:15090820 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28522909|PMID:29091898|REF_RGD_ID:13439737|REF_RGD_ID:15090820 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9007480 Hyperoxia ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:21551015|REF_RGD_ID:11035211 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28382390|REF_RGD_ID:13440093 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9008217 Hemorrhage ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27581200 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20593958 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9008914 Lead Poisoning treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28178683|REF_RGD_ID:13440092 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18511948 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:SNP: :609C>T (human) PMID:19456854|REF_RGD_ID:10769358 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:916 liver benign neoplasm ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:24418717|REF_RGD_ID:11035219 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9452 fatty liver disease ISO RGD:2503 D RGD:9068941 20200609 RGD protein:increased activity:liver PMID:17721935|REF_RGD_ID:5133249 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9538 multiple myeloma ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16949155 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9538 multiple myeloma ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P187S (human) PMID:18156703|REF_RGD_ID:10769348 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9538 multiple myeloma no_association ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P187S (609C>T) (human) PMID:18061666|REF_RGD_ID:10755419 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9675 pulmonary emphysema ISO RGD:735868 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:18559366|REF_RGD_ID:5134973 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11774269|PMID:17332311 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.R139W (465C>T), p.P187S (609C>T) (human) PMID:11774269|REF_RGD_ID:10769359 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:mutation: :609C>T (human) PMID:18444911|REF_RGD_ID:10769347 12042884 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9970 obesity ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17405841 12042894 MBNL3 muscleblind like splicing regulator 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12042894 MBNL3 muscleblind like splicing regulator 3 gene DOID:12849 autistic disorder ISO RGD:1603984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12042894 MBNL3 muscleblind like splicing regulator 3 gene DOID:630 genetic disease ISO RGD:1603984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12042923 WNT7B Wnt family member 7B gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1322906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12042923 WNT7B Wnt family member 7B gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1322906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:25741868 12042923 WNT7B Wnt family member 7B gene DOID:0111807 syndromic microphthalmia 9 ISO RGD:1322906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Matthew-Wood syndrome PMID:25741868 12042923 WNT7B Wnt family member 7B gene DOID:1059 intellectual disability ISO RGD:1322906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12042923 WNT7B Wnt family member 7B gene DOID:11054 urinary bladder cancer ISO RGD:1322906 D RGD:9068941 20200609 RGD mRNA:increased expression:superficial tumors vs normal bladder tissue (p=0.002) or invasive tumors (p=0.003) PMID:9461004|REF_RGD_ID:2299932 12042923 WNT7B Wnt family member 7B gene DOID:1612 breast cancer ISO RGD:1322906 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:decreased vs normal breast epithelium PMID:15492823|REF_RGD_ID:2298699 12042923 WNT7B Wnt family member 7B gene DOID:1618 breast fibroadenoma ISO RGD:1322906 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:increased in 10% of malignant neoplasms vs normal tissue and fibroadenomas PMID:8168088|REF_RGD_ID:2291878 12042923 WNT7B Wnt family member 7B gene DOID:630 genetic disease ISO RGD:1322906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12042923 WNT7B Wnt family member 7B gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1322907 D RGD:9068941 20200609 RGD in vitro transformation of transfected C57MG mammary epithelial cell line PMID:8065359|REF_RGD_ID:2298863 12042923 WNT7B Wnt family member 7B gene DOID:9005233 Experimental Mammary Neoplasms no_association ISO RGD:1322907 D RGD:9068941 20200609 RGD in vitro transformation of transfected C57MG mammary epithelial cell line PMID:9419423|REF_RGD_ID:2298848 12042931 TGFBR3 transforming growth factor beta receptor 3 gene DOID:0080600 COVID-19 ISO RGD:736539 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12042931 TGFBR3 transforming growth factor beta receptor 3 gene DOID:10283 prostate cancer ISO RGD:736539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12042931 TGFBR3 transforming growth factor beta receptor 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:736539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 12042931 TGFBR3 transforming growth factor beta receptor 3 gene DOID:2870 endometrial adenocarcinoma ISO RGD:736539 D RGD:9068941 20200609 RGD mRNA:decreased expression:endometrium PMID:15745937|REF_RGD_ID:1579943 12042931 TGFBR3 transforming growth factor beta receptor 3 gene DOID:5223 infertility ISO RGD:736539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infertility PMID:23265383 12042931 TGFBR3 transforming growth factor beta receptor 3 gene DOID:630 genetic disease ISO RGD:736539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23265383 12042931 TGFBR3 transforming growth factor beta receptor 3 gene DOID:65 connective tissue disease ISO RGD:736539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 12042956 CCNQ cyclin Q gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1604257 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12042956 CCNQ cyclin Q gene DOID:0050476 Barth syndrome ISO RGD:1604257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12042956 CCNQ cyclin Q gene DOID:0050800 creatine transporter deficiency ISO RGD:1604257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12042956 CCNQ cyclin Q gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12042956 CCNQ cyclin Q gene DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome ISO RGD:1604257 D RGD:7240710 20180130 OMIM 12042956 CCNQ cyclin Q gene DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome ISO RGD:1604257 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Syndactyly-telecanthus-anogenital and renal malformations syndrome PMID:18297069|PMID:25741868|PMID:8818947 12042956 CCNQ cyclin Q gene DOID:0112003 immunodeficiency 33 ISO RGD:1604257 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12042956 CCNQ cyclin Q gene DOID:10588 adrenoleukodystrophy ISO RGD:1604257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12042956 CCNQ cyclin Q gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1604257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12042956 CCNQ cyclin Q gene DOID:1227 neutropenia ISO RGD:1604257 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:28492532 12042956 CCNQ cyclin Q gene DOID:12849 autistic disorder ISO RGD:1604257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12042956 CCNQ cyclin Q gene DOID:13628 favism ISO RGD:1604257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12042956 CCNQ cyclin Q gene DOID:2729 dyskeratosis congenita ISO RGD:1604257 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12042956 CCNQ cyclin Q gene DOID:607 paraplegia ISO RGD:1604257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12042956 CCNQ cyclin Q gene DOID:630 genetic disease ISO RGD:1604257 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12042956 CCNQ cyclin Q gene DOID:9002720 Splenomegaly ISO RGD:1604257 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12042965 PITPNA phosphatidylinositol transfer protein alpha gene DOID:0060357 chylomicron retention disease ISO RGD:1550960 D RGD:9068941 20220825 MouseDO OMIM:246700 12042965 PITPNA phosphatidylinositol transfer protein alpha gene DOID:630 genetic disease ISO RGD:1352423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12042984 ARSA arylsulfatase A gene DOID:0050952 spastic ataxia ISO RGD:1321256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:10477432|PMID:12809637|PMID:16678723|PMID:1671769|PMID:17560502|PMID:19815439|PMID:20339381|PMID:24001781|PMID:25741868|PMID:26462614|PMID:28492532|PMID:7866401 12042984 ARSA arylsulfatase A gene DOID:0060041 autism spectrum disorder ISO RGD:1321256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984749|PMID:21984750|PMID:21984751|PMID:25255310 12042984 ARSA arylsulfatase A gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1321256 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12042984 ARSA arylsulfatase A gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1321256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12042984 ARSA arylsulfatase A gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1321256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 12042984 ARSA arylsulfatase A gene DOID:10579 leukodystrophy ISO RGD:1321256 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:10381328|PMID:14517960|PMID:1671769|PMID:20339381|PMID:23581857|PMID:25741868|PMID:28492532|PMID:7866401|PMID:8723680 12042984 ARSA arylsulfatase A gene DOID:10581 metachromatic leukodystrophy ISO RGD:1321256 D RGD:7240710 20180130 OMIM 12042984 ARSA arylsulfatase A gene DOID:10581 metachromatic leukodystrophy ISO RGD:1321256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Arylsulfatase a pseudodeficiency, severe | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe PMID:10220151|PMID:10381328|PMID:10459747|PMID:10477432|PMID:10533072|PMID:10751093|PMID:11013459|PMID:11020646|PMID:11061266|PMID:11456299|PMID:11777924|PMID:11941485|PMID:12035837|PMID:12081727|PMID:12086582|PMID:12116203|PMID:12445909|PMID:12503099|PMID:12788103|PMID:12809637|PMID:12809638|PMID:1284530|PMID:1353340|PMID:1357970|PMID:14517960|PMID:14571263|PMID:14680985|PMID:15026521|PMID:15139291|PMID:15211666|PMID:15326627|PMID:15375602|PMID:15710861|PMID:15720392|PMID:15952986|PMID:16110195|PMID:16199547|PMID:16546179|PMID:16678723|PMID:1670590|PMID:1671769|PMID:1673291|PMID:1674719|PMID:1676699|PMID:1678251|PMID:1684088|PMID:16966551|PMID:17413447|PMID:17438611|PMID:17560502|PMID:17576681|PMID:18693274|PMID:18768108|PMID:18786133|PMID:18832844|PMID:19021637|PMID:19154224|PMID:19565006|PMID:19606494|PMID:1975241|PMID:19815439|PMID:20141713|PMID:20301309|PMID:20339381|PMID:20646068|PMID:20890085|PMID:21080229|PMID:21167507|PMID:21265945|PMID:22216298|PMID:22798296|PMID:22854541|PMID:2299327|PMID:22993277|PMID:23208745|PMID:23559313|PMID:23581857|PMID:23701968|PMID:23845948|PMID:24001781|PMID:24033266|PMID:25297594|PMID:25344692|PMID:25482214|PMID:25525159|PMID:25741868|PMID:2574462|PMID:25965562|PMID:25987178|PMID:26000324|PMID:26131420|PMID:26462614|PMID:26467025|PMID:26553228|PMID:26890752|PMID:26915897|PMID:27261095|PMID:27289174|PMID:27374302|PMID:27779215|PMID:27904824|PMID:28296894|PMID:28492532|PMID:28667691|PMID:28670130|PMID:28749476|PMID:28762252|PMID:28799099|PMID:28923328|PMID:29379168|PMID:29457794|PMID:29544907|PMID:29915382|PMID:29961769|PMID:29966168|PMID:30026549|PMID:30052522|PMID:30057904|PMID:30293248|PMID:30674982|PMID:30828547|PMID:31130284|PMID:31186049|PMID:31312839|PMID:31664448|PMID:31694723|PMID:31922587|PMID:31967741|PMID:31969187|PMID:31980526|PMID:32113700|PMID:32617873|PMID:32632536|PMID:32860008|PMID:33046606|PMID:33138774|PMID:33335837|PMID:33385934|PMID:33855715|PMID:34554397|PMID:6122378|PMID:7581401|PMID:7649558|PMID:7815433|PMID:7815434|PMID:7825603|PMID:7833949|PMID:7858169|PMID:7860068|PMID:7866401|PMID:7902317|PMID:7906588|PMID:7909527|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8101083|PMID:8104633|PMID:8455580|PMID:8723680|PMID:8891236|PMID:8962139|PMID:8982952|PMID:9090526|PMID:9096767|PMID:9192271|PMID:9272717|PMID:9402957|PMID:9452102|PMID:9490297|PMID:9536098|PMID:9600244|PMID:9668161|PMID:9744473|PMID:9819708|PMID:9888390 12042984 ARSA arylsulfatase A gene DOID:1059 intellectual disability ISO RGD:1321256 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10477432|PMID:11456299|PMID:11777924|PMID:11941485|PMID:15375602|PMID:15952986|PMID:16199547|PMID:16546179|PMID:1670590|PMID:1671769|PMID:18786133|PMID:19815439|PMID:20301309|PMID:20339381|PMID:21167507|PMID:25741868|PMID:26131420|PMID:26462614|PMID:26467025|PMID:27289174|PMID:28296894|PMID:28492532|PMID:28762252|PMID:28923328|PMID:29457794|PMID:29915382|PMID:29961769|PMID:30026549|PMID:31186049|PMID:31967741|PMID:7815434|PMID:7825603|PMID:7866401|PMID:8095918|PMID:8455580|PMID:8962139|PMID:9090526|PMID:9096767|PMID:9600244 12042984 ARSA arylsulfatase A gene DOID:13938 amenorrhea ISO RGD:1321256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12042984 ARSA arylsulfatase A gene DOID:1459 hypothyroidism ISO RGD:1310381 D RGD:9068941 20200609 RGD PMID:7901316|REF_RGD_ID:1599223 12042984 ARSA arylsulfatase A gene DOID:630 genetic disease ISO RGD:1321256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10220151|PMID:10477432|PMID:10533072|PMID:11456299|PMID:12081727|PMID:12116203|PMID:12809637|PMID:14517960|PMID:15326627|PMID:15952986|PMID:16199547|PMID:16608548|PMID:1670590|PMID:1671769|PMID:1684088|PMID:16966551|PMID:17576681|PMID:18693274|PMID:18786133|PMID:19021637|PMID:19606494|PMID:20301309|PMID:20339381|PMID:21167507|PMID:23701968|PMID:24001781|PMID:25741868|PMID:25965562|PMID:26462614|PMID:26467025|PMID:26890752|PMID:28492532|PMID:28762252|PMID:28923328|PMID:30052522|PMID:30674982|PMID:31130284|PMID:31186049|PMID:31980526|PMID:32632536|PMID:33046606|PMID:33335837|PMID:34554397|PMID:7815434|PMID:7825603|PMID:7902317|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8455580|PMID:8962139|PMID:9090526|PMID:9096767|PMID:9536098|PMID:9600244 12042984 ARSA arylsulfatase A gene DOID:9002922 Pseudoarylsulfatase A Deficiency ISO RGD:1321256 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pseudoarylsulfatase A deficiency PMID:15326627|PMID:15720392|PMID:24001781|PMID:25741868|PMID:26462614|PMID:28492532|PMID:28670130|PMID:8101038 12042984 ARSA arylsulfatase A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321256 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:10477432|PMID:11456299|PMID:15952986|PMID:16199547|PMID:1670590|PMID:1671769|PMID:18786133|PMID:20301309|PMID:21167507|PMID:25741868|PMID:26462614|PMID:28492532|PMID:28923328|PMID:7815434|PMID:7825603|PMID:8095918|PMID:8455580|PMID:8962139|PMID:9090526|PMID:9096767|PMID:9600244 12042984 ARSA arylsulfatase A gene DOID:9006534 Nervous System Malformations ISO RGD:1321256 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:15326627|PMID:15720392|PMID:24001781|PMID:25741868|PMID:26462614|PMID:28492532|PMID:28670130|PMID:8101038 12042984 ARSA arylsulfatase A gene DOID:9007448 Autosomal Sideroblastic Anemia ISO RGD:1321256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive sideroblastic anemia PMID:25741868 12042984 ARSA arylsulfatase A gene DOID:9255 frontotemporal dementia ISO RGD:1321256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:10477432|PMID:12809637|PMID:1353340|PMID:16678723|PMID:18693274|PMID:18786133|PMID:19606494|PMID:23559313|PMID:25741868|PMID:25965562|PMID:26131420|PMID:26462614|PMID:28492532|PMID:31694723|PMID:33855715 12042984 ARSA arylsulfatase A gene DOID:9273 citrullinemia ISO RGD:1321256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Citrullinemia PMID:25741868|PMID:26467025|PMID:28492532 12043000 MOB3A MOB kinase activator 3A gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1317819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12043000 MOB3A MOB kinase activator 3A gene DOID:5339 cyclic hematopoiesis ISO RGD:1317819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12043000 MOB3A MOB kinase activator 3A gene DOID:630 genetic disease ISO RGD:1317819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12043000 MOB3A MOB kinase activator 3A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12043000 MOB3A MOB kinase activator 3A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12043011 CALR3 calreticulin 3 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1319475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:17655857|PMID:23861362|PMID:28492532 12043011 CALR3 calreticulin 3 gene DOID:0050700 cardiomyopathy ISO RGD:1319475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 12043011 CALR3 calreticulin 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1319475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 12043011 CALR3 calreticulin 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1319475 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:16199547|PMID:17576681|PMID:17655857|PMID:23861362|PMID:25163546|PMID:25640679|PMID:25741868|PMID:28492532|PMID:29988065|PMID:31513939|PMID:9536098 12043011 CALR3 calreticulin 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1319475 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:16199547|PMID:17576681|PMID:17655857|PMID:23861362|PMID:25163546|PMID:25640679|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29988065|PMID:30847666|PMID:31513939|PMID:9536098 12043011 CALR3 calreticulin 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1319475 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:16199547|PMID:17576681|PMID:17655857|PMID:23861362|PMID:25163546|PMID:25640679|PMID:25741868|PMID:28087566|PMID:28166811|PMID:28492532|PMID:29988065|PMID:30847666|PMID:31513939|PMID:9536098 12043011 CALR3 calreticulin 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1319475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:16199547|PMID:17576681|PMID:17655857|PMID:23861362|PMID:25163546|PMID:25640679|PMID:25741868|PMID:28087566|PMID:28492532|PMID:29988065|PMID:30847666|PMID:31513939|PMID:34127479|PMID:9536098 12043011 CALR3 calreticulin 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1319475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17655857|PMID:23861362|PMID:25741868|PMID:28492532|PMID:31513939 12043011 CALR3 calreticulin 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532|PMID:29988065 12043011 CALR3 calreticulin 3 gene DOID:630 genetic disease ISO RGD:1319475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12043011 CALR3 calreticulin 3 gene DOID:9001172 FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 19 ISO RGD:1319475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 19 PMID:23861362|PMID:25741868|PMID:28492532|PMID:29988065|PMID:30847666 12043024 ALK ALK receptor tyrosine kinase gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16151469|PMID:19503098|PMID:21345110|PMID:22155737|PMID:22920921|PMID:22968692 12043024 ALK ALK receptor tyrosine kinase gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22474449 12043024 ALK ALK receptor tyrosine kinase gene DOID:1324 lung cancer ISO RGD:1353820 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:20979473|PMID:21575866|PMID:22277784|PMID:24327273|PMID:24670165|PMID:28492532 12043024 ALK ALK receptor tyrosine kinase gene DOID:2394 ovarian cancer ISO RGD:1353820 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:18923524|PMID:23104988|PMID:24728327|PMID:25741868|PMID:26580448|PMID:28492532 12043024 ALK ALK receptor tyrosine kinase gene DOID:2769 tic disorder ISO RGD:1353820 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Phonic tics PMID:32989326 12043024 ALK ALK receptor tyrosine kinase gene DOID:3247 rhabdomyosarcoma ISO RGD:1353820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:22184391 12043024 ALK ALK receptor tyrosine kinase gene DOID:3677 pulmonary plasma cell granuloma ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21430068 12043024 ALK ALK receptor tyrosine kinase gene DOID:3907 lung squamous cell carcinoma ISO RGD:1353820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532 12043024 ALK ALK receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1353820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:18923525|PMID:20979473|PMID:21030459|PMID:21575866|PMID:21791641|PMID:21838707|PMID:21948233|PMID:22072639|PMID:22235099|PMID:22277784|PMID:23344087|PMID:24327273|PMID:24670165 12043024 ALK ALK receptor tyrosine kinase gene DOID:3910 lung adenocarcinoma ISO RGD:1353820 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:18923525|PMID:20979473|PMID:21030459|PMID:21575866|PMID:21791641|PMID:21838707|PMID:21948233|PMID:22072639|PMID:22235099|PMID:22277784|PMID:23344087|PMID:24327273|PMID:24670165|PMID:26619011|PMID:27993330 12043024 ALK ALK receptor tyrosine kinase gene DOID:4450 renal cell carcinoma ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22743654 12043024 ALK ALK receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:1353820 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12043024 ALK ALK receptor tyrosine kinase gene DOID:769 neuroblastoma ISO RGD:1353820 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma Susceptibility PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:18990089|PMID:21030459|PMID:21242967|PMID:2124297|PMID:21575866|PMID:21804922|PMID:21838707|PMID:21948233|PMID:21972109|PMID:22071890|PMID:22072639|PMID:22277784|PMID:22932897|PMID:23104988|PMID:23334666|PMID:24205241|PMID:24327273|PMID:24675991|PMID:25517749|PMID:25741868|PMID:26619011|PMID:26829053|PMID:27132509|PMID:28492532|PMID:28873162|PMID:29489754|PMID:30004444|PMID:30350464|PMID:30605844 12043024 ALK ALK receptor tyrosine kinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22986231|PMID:22999080 12043024 ALK ALK receptor tyrosine kinase gene DOID:9004794 Granuloma, Plasma Cell ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20979472|PMID:21030459|PMID:22920921 12043024 ALK ALK receptor tyrosine kinase gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22277784 12043024 ALK ALK receptor tyrosine kinase gene DOID:9006684 Inflammatory Breast Neoplasms ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22215853 12043024 ALK ALK receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:16880530|PMID:17576681|PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:21242967|PMID:21637378|PMID:21804922|PMID:21838707|PMID:22071890|PMID:22072639|PMID:22086496|PMID:22184391|PMID:22932897|PMID:23104988|PMID:23334666|PMID:23555315|PMID:24033266|PMID:24129244|PMID:24326041|PMID:24675991|PMID:24728327|PMID:25054154|PMID:25517749|PMID:25589003|PMID:25741868|PMID:25801821|PMID:25874976|PMID:25979929|PMID:26002608|PMID:26503946|PMID:26554404|PMID:26580448|PMID:26619011|PMID:26696773|PMID:26829053|PMID:27132509|PMID:27153395|PMID:27179218|PMID:27930734|PMID:28185914|PMID:28492532|PMID:28756644|PMID:28873162|PMID:28975465|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29684080|PMID:30004444|PMID:30006516|PMID:30350464|PMID:30605844|PMID:30716324|PMID:30982079|PMID:30989433|PMID:32984025|PMID:33486679|PMID:33674381|PMID:33898318|PMID:9536098 12043024 ALK ALK receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353820 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:16880530|PMID:17576681|PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:21242967|PMID:21637378|PMID:21804922|PMID:21838707|PMID:22071890|PMID:22072639|PMID:22086496|PMID:22184391|PMID:22932897|PMID:23104988|PMID:23334666|PMID:23555315|PMID:24033266|PMID:24129244|PMID:24326041|PMID:24675991|PMID:24728327|PMID:25054154|PMID:25517749|PMID:25589003|PMID:25741868|PMID:25801821|PMID:25874976|PMID:25979929|PMID:26002608|PMID:26554404|PMID:26580448|PMID:26619011|PMID:26696773|PMID:26829053|PMID:27132509|PMID:27153395|PMID:27179218|PMID:27930734|PMID:28185914|PMID:28492532|PMID:28873162|PMID:28975465|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29684080|PMID:30004444|PMID:30006516|PMID:30350464|PMID:30605844|PMID:30716324|PMID:30982079|PMID:30989433|PMID:32984025|PMID:33486679|PMID:33674381|PMID:33898318|PMID:9536098 12043024 ALK ALK receptor tyrosine kinase gene DOID:9007502 Brain Neoplasms ISO RGD:1353820 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neoplasm of brain PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:21242967|PMID:21838707|PMID:22071890|PMID:22072639|PMID:22932897|PMID:23334666|PMID:24205241|PMID:25517749|PMID:25741868|PMID:26619011|PMID:26829053|PMID:28492532|PMID:28873162|PMID:29489754|PMID:30004444|PMID:30350464|PMID:30605844 12043024 ALK ALK receptor tyrosine kinase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22286764|PMID:23104988 12043024 ALK ALK receptor tyrosine kinase gene DOID:9007671 Familial Isolated Pituitary Adenoma ISO RGD:1353820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial isolated pituitary adenoma PMID:17576681|PMID:21838707|PMID:22072639|PMID:23104988|PMID:25741868|PMID:28492532|PMID:32984025|PMID:9536098 12043024 ALK ALK receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:1353820 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:21242967|PMID:21838707|PMID:22071890|PMID:22072639|PMID:22932897|PMID:23334666|PMID:25517749|PMID:25741868|PMID:26619011|PMID:26829053|PMID:28492532|PMID:28873162|PMID:29489754|PMID:30004444|PMID:30350464|PMID:30605844 12043024 ALK ALK receptor tyrosine kinase gene DOID:9009095 Neuroblastoma 3 ISO RGD:1353820 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 PMID:15517393|PMID:16199547|PMID:16880530|PMID:17576681|PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:18990089|PMID:21030459|PMID:21242967|PMID:2124297|PMID:21575866|PMID:21637378|PMID:21804922|PMID:21838707|PMID:21948233|PMID:21972109|PMID:22071890|PMID:22072639|PMID:22086496|PMID:22277784|PMID:22932897|PMID:23104988|PMID:23334666|PMID:23555315|PMID:24033266|PMID:24129244|PMID:24205241|PMID:24326041|PMID:24327273|PMID:24675991|PMID:24728327|PMID:25054154|PMID:25517749|PMID:25589003|PMID:25640679|PMID:25714698|PMID:25741868|PMID:25801821|PMID:25874976|PMID:25979929|PMID:26002608|PMID:26554404|PMID:26580448|PMID:26619011|PMID:26689913|PMID:26696773|PMID:26829053|PMID:27132509|PMID:27153395|PMID:27179218|PMID:27285993|PMID:27930734|PMID:28185914|PMID:28202063|PMID:28492532|PMID:28873162|PMID:28975465|PMID:29489754|PMID:29625052|PMID:29684080|PMID:30004444|PMID:30350464|PMID:30605844|PMID:30716324|PMID:30982079|PMID:30989433|PMID:32984025|PMID:33372952|PMID:33486679|PMID:33898318|PMID:9536098 12043024 ALK ALK receptor tyrosine kinase gene DOID:9009095 Neuroblastoma 3 susceptibility ISO RGD:1353820 D RGD:7240710 20190502 OMIM 12043057 P2RY12 purinergic receptor P2Y12 gene DOID:0050579 glycogen storage disease XV ISO RGD:1354000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 12043057 P2RY12 purinergic receptor P2Y12 gene DOID:0050830 peripheral artery disease ISO RGD:1354000 D RGD:9068941 20200609 RGD PMID:14662702|REF_RGD_ID:1580188 12043057 P2RY12 purinergic receptor P2Y12 gene DOID:0060692 platelet-type bleeding disorder 8 ISO RGD:1354000 D RGD:7240710 20180130 OMIM 12043057 P2RY12 purinergic receptor P2Y12 gene DOID:0060692 platelet-type bleeding disorder 8 ISO RGD:1354000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation | ClinVar Annotator: match by term: Platelet-type bleeding disorder 8 PMID:11196645|PMID:12578987|PMID:20966167|PMID:25741868|PMID:28492532|PMID:29117459|PMID:31064749|PMID:32100410|PMID:7706468 12043057 P2RY12 purinergic receptor P2Y12 gene DOID:0060903 thrombosis ISO RGD:1354000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17334511 12043057 P2RY12 purinergic receptor P2Y12 gene DOID:0060903 thrombosis ISO RGD:621681 D RGD:9068941 20200609 RGD PMID:19692114|REF_RGD_ID:6480647 12043057 P2RY12 purinergic receptor P2Y12 gene DOID:0060903 thrombosis ISO RGD:733568 D RGD:9068941 20200609 RGD PMID:12897207|REF_RGD_ID:1580187 12043057 P2RY12 purinergic receptor P2Y12 gene DOID:1059 intellectual disability ISO RGD:1354000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31155615 12043057 P2RY12 purinergic receptor P2Y12 gene DOID:1588 thrombocytopenia ISO RGD:733568 D RGD:9068941 20200609 RGD associated with Thrombosis PMID:21652673|REF_RGD_ID:6480523 12043057 P2RY12 purinergic receptor P2Y12 gene DOID:2213 hemorrhagic disease ISO RGD:1354000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 12043057 P2RY12 purinergic receptor P2Y12 gene DOID:2349 arteriosclerosis ISO RGD:733568 D RGD:9068941 20200609 RGD PMID:19295309|REF_RGD_ID:6480535 12043057 P2RY12 purinergic receptor P2Y12 gene DOID:2841 asthma ISO RGD:1354000 D RGD:9068941 20200609 RGD PMID:22010907|REF_RGD_ID:6480532 12043057 P2RY12 purinergic receptor P2Y12 gene DOID:2841 asthma ISO RGD:733568 D RGD:9068941 20200609 RGD PMID:19822647|REF_RGD_ID:6480533 12043057 P2RY12 purinergic receptor P2Y12 gene DOID:5844 myocardial infarction ISO RGD:1354000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19334620 12043057 P2RY12 purinergic receptor P2Y12 gene DOID:630 genetic disease ISO RGD:1354000 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12043057 P2RY12 purinergic receptor P2Y12 gene DOID:6713 cerebrovascular disease ISO RGD:1354000 D RGD:9068941 20200609 RGD associated with Peripheral Arterial Disease;DNA:polymorphism:exon:34C>T (human) PMID:15933261|REF_RGD_ID:1580189 12043057 P2RY12 purinergic receptor P2Y12 gene DOID:7693 abdominal aortic aneurysm ISO RGD:621681 D RGD:9068941 20200609 RGD PMID:19028049|REF_RGD_ID:6480528 12043057 P2RY12 purinergic receptor P2Y12 gene DOID:9000668 Nizon-Isidor Syndrome ISO RGD:1354000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nizon-Isidor syndrome PMID:25741868|PMID:31155615 12043057 P2RY12 purinergic receptor P2Y12 gene DOID:9002211 Hyperalgesia ISO RGD:621681 D RGD:9068941 20200609 RGD PMID:20136836|REF_RGD_ID:6480526 12043057 P2RY12 purinergic receptor P2Y12 gene DOID:9002211 Hyperalgesia ISO RGD:733568 D RGD:9068941 20200609 RGD PMID:20398327|REF_RGD_ID:6480525 12043057 P2RY12 purinergic receptor P2Y12 gene DOID:9002457 Experimental Arthritis ISO RGD:621681 D RGD:9068941 20200609 RGD PMID:22028806|REF_RGD_ID:6480518 12043057 P2RY12 purinergic receptor P2Y12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12043057 P2RY12 purinergic receptor P2Y12 gene DOID:9004610 Acute Lung Injury ISO RGD:621681 D RGD:9068941 20200609 RGD associated with Shock, Hemorrhagic PMID:21841533|REF_RGD_ID:6480522 12043057 P2RY12 purinergic receptor P2Y12 gene DOID:9005968 Neuralgia ISO RGD:621681 D RGD:9068941 20200609 RGD PMID:20665560|REF_RGD_ID:6480524 12043057 P2RY12 purinergic receptor P2Y12 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1354000 D RGD:9068941 20200609 RGD PMID:20431845|REF_RGD_ID:6480645 12043057 P2RY12 purinergic receptor P2Y12 gene DOID:9008217 Hemorrhage ISO RGD:1354000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11196645 12043057 P2RY12 purinergic receptor P2Y12 gene DOID:9008582 Developmental Disease ISO RGD:1354000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12043057 P2RY12 purinergic receptor P2Y12 gene DOID:9074 systemic lupus erythematosus ISO RGD:1354000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15304052 12043057 P2RY12 purinergic receptor P2Y12 gene DOID:9074 systemic lupus erythematosus ISO RGD:1354000 D RGD:9068941 20200609 RGD PMID:15304052|REF_RGD_ID:6480537 12043057 P2RY12 purinergic receptor P2Y12 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1354000 D RGD:9068941 20200609 RGD PMID:15483100|REF_RGD_ID:6480536 12043064 TMC8 transmembrane channel like 8 gene DOID:13777 epidermodysplasia verruciformis ISO RGD:1353841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis PMID:10084299|PMID:12426567|PMID:16045695|PMID:16199547|PMID:17576681|PMID:22158547|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 12043064 TMC8 transmembrane channel like 8 gene DOID:630 genetic disease ISO RGD:1353841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12043064 TMC8 transmembrane channel like 8 gene DOID:9004020 Epidermodysplasia Verruciformis 1 ISO RGD:1353841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 PMID:12426567|PMID:17576681|PMID:22158547|PMID:25741868|PMID:28492532|PMID:9536098 12043064 TMC8 transmembrane channel like 8 gene DOID:9006415 Epidermodysplasia Verruciformis 2 ISO RGD:1353841 D RGD:7240710 20190315 OMIM 12043064 TMC8 transmembrane channel like 8 gene DOID:9006415 Epidermodysplasia Verruciformis 2 ISO RGD:1353841 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 PMID:10084299|PMID:12426567|PMID:17576681|PMID:22158547|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28646613|PMID:9536098 12043085 UBALD1 UBA like domain containing 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604544 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12043085 UBALD1 UBA like domain containing 1 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1604544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 12043085 UBALD1 UBA like domain containing 1 gene DOID:1826 epilepsy ISO RGD:1604544 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12043085 UBALD1 UBA like domain containing 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604544 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12043085 UBALD1 UBA like domain containing 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1604544 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12043085 UBALD1 UBA like domain containing 1 gene DOID:630 genetic disease ISO RGD:1604544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12043094 SPC25 SPC25 component of NDC80 kinetochore complex gene DOID:630 genetic disease ISO RGD:1606531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12043094 SPC25 SPC25 component of NDC80 kinetochore complex gene DOID:684 hepatocellular carcinoma ISO RGD:1606531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12043105 B2M beta-2-microglobulin gene DOID:0050589 inflammatory bowel disease ISO RGD:735892 D RGD:9068941 20200609 RGD PMID:20015205|REF_RGD_ID:6482693 12043105 B2M beta-2-microglobulin gene DOID:0050636 familial visceral amyloidosis ISO RGD:735892 D RGD:7240710 20180130 OMIM 12043105 B2M beta-2-microglobulin gene DOID:0050636 familial visceral amyloidosis ISO RGD:735892 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial visceral amyloidosis PMID:22693999|PMID:25702838|PMID:25741868|PMID:28492532 12043105 B2M beta-2-microglobulin gene DOID:0050712 AGAT deficiency ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 12043105 B2M beta-2-microglobulin gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:735892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7688627 12043105 B2M beta-2-microglobulin gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:735892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413734 12043105 B2M beta-2-microglobulin gene DOID:0050830 peripheral artery disease severity ISO RGD:735892 D RGD:9068941 20200609 RGD PMID:21314441|REF_RGD_ID:6482704 12043105 B2M beta-2-microglobulin gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:22693999|PMID:26619011 12043105 B2M beta-2-microglobulin gene DOID:0060704 lymphoproliferative syndrome ISO RGD:10224 D RGD:9068941 20200609 RGD associated with Herpesviridae Infections PMID:16282467|REF_RGD_ID:6483039 12043105 B2M beta-2-microglobulin gene DOID:0060704 lymphoproliferative syndrome ISO RGD:735892 D RGD:9068941 20200609 RGD associated with kidney transplantation PMID:9067691|REF_RGD_ID:6482705 12043105 B2M beta-2-microglobulin gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 PMID:28492532 12043105 B2M beta-2-microglobulin gene DOID:0111981 immunodeficiency 43 ISO RGD:735892 D RGD:7240710 20180130 OMIM 12043105 B2M beta-2-microglobulin gene DOID:0111981 immunodeficiency 43 ISO RGD:735892 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypoproteinemia, hypercatabolic PMID:16549777|PMID:25702838|PMID:25741868|PMID:28492532|PMID:4186801 12043105 B2M beta-2-microglobulin gene DOID:10763 hypertension ISO RGD:735892 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15957539|REF_RGD_ID:1601306 12043105 B2M beta-2-microglobulin gene DOID:114 heart disease ISO RGD:735892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 12043105 B2M beta-2-microglobulin gene DOID:11400 pyelonephritis ISO RGD:2189 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:21797109|REF_RGD_ID:6482315 12043105 B2M beta-2-microglobulin gene DOID:14330 Parkinson's disease ISO RGD:735892 D RGD:9068941 20200609 RGD protein:increased expression:corpus striatum PMID:7605592|REF_RGD_ID:6482706 12043105 B2M beta-2-microglobulin gene DOID:1909 melanoma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:26619011 12043105 B2M beta-2-microglobulin gene DOID:2349 arteriosclerosis ISO RGD:735892 D RGD:9068941 20200609 RGD associated with Kidney Diseases PMID:16221094|REF_RGD_ID:2311212 12043105 B2M beta-2-microglobulin gene DOID:2352 hemochromatosis ISO RGD:10224 D RGD:9068941 20220825 MouseDO OMIM:231100 12043105 B2M beta-2-microglobulin gene DOID:2717 Bloom syndrome ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12043105 B2M beta-2-microglobulin gene DOID:3021 acute kidney failure ISO RGD:2189 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19536607|REF_RGD_ID:6482685 12043105 B2M beta-2-microglobulin gene DOID:3021 acute kidney failure ISO RGD:735892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22005293|PMID:2689182|PMID:28885000 12043105 B2M beta-2-microglobulin gene DOID:3407 carotid artery disease disease_progression ISO RGD:735892 D RGD:9068941 20200609 RGD PMID:21546482|REF_RGD_ID:6482703 12043105 B2M beta-2-microglobulin gene DOID:3717 gastric adenocarcinoma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:26619011 12043105 B2M beta-2-microglobulin gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:735892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12043105 B2M beta-2-microglobulin gene DOID:3907 lung squamous cell carcinoma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:26619011 12043105 B2M beta-2-microglobulin gene DOID:3910 lung adenocarcinoma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:26619011 12043105 B2M beta-2-microglobulin gene DOID:417 autoimmune disease ISO RGD:735892 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21793797 12043105 B2M beta-2-microglobulin gene DOID:417 autoimmune disease ISO RGD:735892 D RGD:9068941 20200609 RGD associated with Leukemia, lymphocyte, chronic-B-cell; protein:increased expression:urine PMID:17214095|REF_RGD_ID:6482731 12043105 B2M beta-2-microglobulin gene DOID:5199 ureteral obstruction ISO RGD:2189 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19536607|REF_RGD_ID:6482685 12043105 B2M beta-2-microglobulin gene DOID:5409 lung small cell carcinoma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma PMID:26619011 12043105 B2M beta-2-microglobulin gene DOID:5411 lung oat cell carcinoma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung oat cell carcinoma PMID:26619011 12043105 B2M beta-2-microglobulin gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:26619011 12043105 B2M beta-2-microglobulin gene DOID:557 kidney disease ISO RGD:735892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17303580|PMID:2202081|PMID:24863737 12043105 B2M beta-2-microglobulin gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:26619011 12043105 B2M beta-2-microglobulin gene DOID:576 proteinuria ISO RGD:735892 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:17634209|REF_RGD_ID:2311211 12043105 B2M beta-2-microglobulin gene DOID:576 proteinuria ISO RGD:735892 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:33857584 12043105 B2M beta-2-microglobulin gene DOID:640 encephalomyelitis ISO RGD:10224 D RGD:9068941 20200609 RGD associated with Theilovirus infection PMID:22335434|REF_RGD_ID:6482701 12043105 B2M beta-2-microglobulin gene DOID:640 encephalomyelitis ISO RGD:735892 D RGD:9068941 20200609 RGD associated with Measles; protein:increased expression:cerebrospinal fluid PMID:1402029|REF_RGD_ID:6482707 12043105 B2M beta-2-microglobulin gene DOID:6536 plasma cell neoplasm ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:26619011 12043105 B2M beta-2-microglobulin gene DOID:83 cataract ISO RGD:735892 D RGD:9068941 20200609 RGD associated with Diabetic Nephropathies PMID:12567748|REF_RGD_ID:2311237 12043105 B2M beta-2-microglobulin gene DOID:848 arthritis ISO RGD:735892 D RGD:9068941 20200609 RGD PMID:16575857|REF_RGD_ID:6482692 12043105 B2M beta-2-microglobulin gene DOID:8622 measles ISO RGD:735892 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:1402029|REF_RGD_ID:6482707 12043105 B2M beta-2-microglobulin gene DOID:8923 skin melanoma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:26619011 12043105 B2M beta-2-microglobulin gene DOID:9000169 Systemic Inflammatory Response Syndrome ISO RGD:735892 D RGD:9068941 20200609 RGD associated with infant, premature;protein:increased expression:urine PMID:19527385|REF_RGD_ID:6482709 12043105 B2M beta-2-microglobulin gene DOID:9000380 Spondylarthritis ISO RGD:735892 D RGD:9068941 20200609 RGD PMID:16575857|REF_RGD_ID:6482692 12043105 B2M beta-2-microglobulin gene DOID:9001542 Albuminuria ISO RGD:735892 D RGD:9068941 20200609 RGD associated with HIV infections;protein:increased expression:urine PMID:18469311|REF_RGD_ID:6482713 12043105 B2M beta-2-microglobulin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2189 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:18777138|REF_RGD_ID:6482712 12043105 B2M beta-2-microglobulin gene DOID:9002304 Prostatic Neoplasms ISO RGD:735892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17404077 12043105 B2M beta-2-microglobulin gene DOID:9002331 Knee Osteoarthritis ISO RGD:735892 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18795399|REF_RGD_ID:6482710 12043105 B2M beta-2-microglobulin gene DOID:9002513 Hypoproteinemia susceptibility ISO RGD:735892 D RGD:9068941 20200609 RGD DNA:transversion:exon;913G>C PMID:16549777|REF_RGD_ID:1599429 12043105 B2M beta-2-microglobulin gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10224 D RGD:9068941 20200609 RGD PMID:15837577|REF_RGD_ID:6482690 12043105 B2M beta-2-microglobulin gene DOID:9003571 Paraproteinemias ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:26619011 12043105 B2M beta-2-microglobulin gene DOID:9005358 Hypergammaglobulinemia ISO RGD:735892 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21793797 12043105 B2M beta-2-microglobulin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 12043105 B2M beta-2-microglobulin gene DOID:9008443 Colorectal Neoplasms ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:26619011 12043105 B2M beta-2-microglobulin gene DOID:9256 colorectal cancer ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12043105 B2M beta-2-microglobulin gene DOID:9352 type 2 diabetes mellitus ISO RGD:735892 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15127324|REF_RGD_ID:2311236 12043105 B2M beta-2-microglobulin gene DOID:9538 multiple myeloma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:26619011 12043105 B2M beta-2-microglobulin gene DOID:9744 type 1 diabetes mellitus ISO RGD:10224 D RGD:9068941 20200609 RGD PMID:11572996|PMID:15446308|REF_RGD_ID:2311235|REF_RGD_ID:2311238 12043105 B2M beta-2-microglobulin gene DOID:9970 obesity ISO RGD:735892 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:15517379|REF_RGD_ID:1601309 12043118 PHF2 PHD finger protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1313130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12043118 PHF2 PHD finger protein 2 gene DOID:10283 prostate cancer ISO RGD:1313130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12043118 PHF2 PHD finger protein 2 gene DOID:12642 hiatus hernia ISO RGD:1313130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hiatus hernia 12043118 PHF2 PHD finger protein 2 gene DOID:630 genetic disease ISO RGD:1313130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23265383 12043118 PHF2 PHD finger protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 12043153 PARN poly(A)-specific ribonuclease gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1348471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25848748 12043153 PARN poly(A)-specific ribonuclease gene DOID:0070024 autosomal recessive dyskeratosis congenita 6 ISO RGD:1348471 D RGD:7240710 20180130 OMIM 12043153 PARN poly(A)-specific ribonuclease gene DOID:0070024 autosomal recessive dyskeratosis congenita 6 ISO RGD:1348471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 6 PMID:16199547|PMID:17576681|PMID:22834816|PMID:25640679|PMID:25741868|PMID:25848748|PMID:25893599|PMID:26342108|PMID:26482878|PMID:26810774|PMID:28099038|PMID:28192371|PMID:28414520|PMID:28492532|PMID:28495692|PMID:30523342|PMID:30525901|PMID:31268371|PMID:31448843|PMID:34298581|PMID:9536098|PMID:9736620 12043153 PARN poly(A)-specific ribonuclease gene DOID:0110848 xeroderma pigmentosum group F ISO RGD:1348471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group F PMID:28492532 12043153 PARN poly(A)-specific ribonuclease gene DOID:2729 dyskeratosis congenita ISO RGD:1348471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:25893599 12043153 PARN poly(A)-specific ribonuclease gene DOID:3770 pulmonary fibrosis ISO RGD:1348471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:16199547|PMID:25741868|PMID:25848748|PMID:26482878|PMID:26810774|PMID:28192371|PMID:28414520|PMID:28492532|PMID:28495692|PMID:30525901|PMID:9736620 12043153 PARN poly(A)-specific ribonuclease gene DOID:630 genetic disease ISO RGD:1348471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:30523342|PMID:31268371|PMID:9536098 12043153 PARN poly(A)-specific ribonuclease gene DOID:9002685 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 4 ISO RGD:1348471 D RGD:7240710 20180130 OMIM 12043153 PARN poly(A)-specific ribonuclease gene DOID:9002685 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 4 ISO RGD:1348471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 PMID:16281054|PMID:22834816|PMID:25741868|PMID:25848748|PMID:26482878|PMID:26810774|PMID:28192371|PMID:28414520|PMID:28492532|PMID:28495692|PMID:34298581|PMID:9736620 12043186 PREB prolactin regulatory element binding gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1352675 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12043186 PREB prolactin regulatory element binding gene DOID:630 genetic disease ISO RGD:1352675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12043199 BARX1 BARX homeobox 1 gene DOID:12642 hiatus hernia ISO RGD:1322041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hiatus hernia 12043199 BARX1 BARX homeobox 1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1322041 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121790 12043199 BARX1 BARX homeobox 1 gene DOID:630 genetic disease ISO RGD:1322041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12043207 SKA1 spindle and kinetochore associated complex subunit 1 gene DOID:0080600 COVID-19 ISO RGD:1321886 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12043207 SKA1 spindle and kinetochore associated complex subunit 1 gene DOID:1059 intellectual disability ISO RGD:1321886 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12043207 SKA1 spindle and kinetochore associated complex subunit 1 gene DOID:630 genetic disease ISO RGD:1321886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12043207 SKA1 spindle and kinetochore associated complex subunit 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1321886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12043221 ZNF57 zinc finger protein 57 gene DOID:630 genetic disease ISO RGD:1343175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12043229 FOXJ2 forkhead box J2 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1344904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12043229 FOXJ2 forkhead box J2 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1344904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12043229 FOXJ2 forkhead box J2 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1344904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12043229 FOXJ2 forkhead box J2 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1344904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12043229 FOXJ2 forkhead box J2 gene DOID:0111621 Temtamy syndrome ISO RGD:1344904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12043229 FOXJ2 forkhead box J2 gene DOID:630 genetic disease ISO RGD:1344904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12043229 FOXJ2 forkhead box J2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1344904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12043244 TNRC6A trinucleotide repeat containing adaptor 6A gene DOID:0111696 familial adult myoclonic epilepsy 6 ISO RGD:1607049 D RGD:7240710 20190315 OMIM 12043244 TNRC6A trinucleotide repeat containing adaptor 6A gene DOID:0111696 familial adult myoclonic epilepsy 6 ISO RGD:1607049 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 6 PMID:25741868|PMID:28492532 12043244 TNRC6A trinucleotide repeat containing adaptor 6A gene DOID:630 genetic disease ISO RGD:1607049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12043244 TNRC6A trinucleotide repeat containing adaptor 6A gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1607049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29507423 12043286 DLL3 delta like canonical Notch ligand 3 gene DOID:0050568 spondylocostal dysostosis ISO RGD:735462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 12043286 DLL3 delta like canonical Notch ligand 3 gene DOID:0060249 scoliosis ISO RGD:735462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17849441 12043286 DLL3 delta like canonical Notch ligand 3 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:735462 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12043286 DLL3 delta like canonical Notch ligand 3 gene DOID:0112365 spondylocostal dysostosis 1 ISO RGD:735462 D RGD:7240710 20180704 OMIM 12043286 DLL3 delta like canonical Notch ligand 3 gene DOID:0112365 spondylocostal dysostosis 1 ISO RGD:735462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive PMID:10742114|PMID:12746394|PMID:12791036|PMID:15200511|PMID:15717203|PMID:17041936|PMID:18485326|PMID:25741868|PMID:2805381|PMID:28492532|PMID:29459493 12043286 DLL3 delta like canonical Notch ligand 3 gene DOID:11193 syndactyly ISO RGD:735462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Syndactyly PMID:15717203|PMID:17041936|PMID:18485326|PMID:25741868|PMID:28492532|PMID:29459493 12043286 DLL3 delta like canonical Notch ligand 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:735462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12043286 DLL3 delta like canonical Notch ligand 3 gene DOID:1342 congenital hypoplastic anemia ISO RGD:735462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12043286 DLL3 delta like canonical Notch ligand 3 gene DOID:1934 dysostosis ISO RGD:735462 D RGD:9068941 20200609 RGD DNA:nonsense mutations, missense mutation PMID:10742114|REF_RGD_ID:1599775 12043286 DLL3 delta like canonical Notch ligand 3 gene DOID:2256 osteochondrodysplasia ISO RGD:735462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11146471 12043286 DLL3 delta like canonical Notch ligand 3 gene DOID:2340 craniosynostosis ISO RGD:735462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12043286 DLL3 delta like canonical Notch ligand 3 gene DOID:3069 malignant astrocytoma ISO RGD:735462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 12043286 DLL3 delta like canonical Notch ligand 3 gene DOID:630 genetic disease ISO RGD:735462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12043286 DLL3 delta like canonical Notch ligand 3 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:735462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12043286 DLL3 delta like canonical Notch ligand 3 gene DOID:9005835 Congenital Abnormalities ISO RGD:735462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17849441 12043286 DLL3 delta like canonical Notch ligand 3 gene DOID:9006006 Spondylocostal Dysostosis, Autosomal Recessive ISO RGD:735462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12043286 DLL3 delta like canonical Notch ligand 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:735462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17849441 12043286 DLL3 delta like canonical Notch ligand 3 gene DOID:9009169 LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA ISO RGD:735462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia PMID:25741868|PMID:28492532 12043286 DLL3 delta like canonical Notch ligand 3 gene DOID:9269 maple syrup urine disease ISO RGD:735462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12043286 DLL3 delta like canonical Notch ligand 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735462 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12043299 TRAPPC2 trafficking protein particle complex subunit 2 gene DOID:0050777 Joubert syndrome ISO RGD:1350228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:25674159|PMID:27081566|PMID:28492532 12043299 TRAPPC2 trafficking protein particle complex subunit 2 gene DOID:0080362 X-linked spondyloepiphyseal dysplasia tarda ISO RGD:1350228 D RGD:7240710 20181219 OMIM 12043299 TRAPPC2 trafficking protein particle complex subunit 2 gene DOID:0080362 X-linked spondyloepiphyseal dysplasia tarda ISO RGD:1350228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda, X-linked PMID:11326333|PMID:11349230|PMID:15221797|PMID:17576681|PMID:22563562|PMID:25741868|PMID:26252088|PMID:28492532|PMID:9536098 12043299 TRAPPC2 trafficking protein particle complex subunit 2 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1350228 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:10999831|PMID:25741868|PMID:9990351 12043299 TRAPPC2 trafficking protein particle complex subunit 2 gene DOID:0112284 spondyloepiphyseal dysplasia tarda ISO RGD:1350228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda PMID:10431248|PMID:10999831|PMID:11326333|PMID:11424925|PMID:12030902|PMID:12446987|PMID:12919139|PMID:14755465|PMID:15221797|PMID:17576681|PMID:18414213|PMID:22563562|PMID:23656395|PMID:25741868|PMID:26252088|PMID:28492532|PMID:9536098|PMID:9990351 12043299 TRAPPC2 trafficking protein particle complex subunit 2 gene DOID:12849 autistic disorder ISO RGD:1350228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12043299 TRAPPC2 trafficking protein particle complex subunit 2 gene DOID:14789 spondyloepiphyseal dysplasia congenita ISO RGD:1350228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita 12043299 TRAPPC2 trafficking protein particle complex subunit 2 gene DOID:2256 osteochondrodysplasia ISO RGD:1350228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12043299 TRAPPC2 trafficking protein particle complex subunit 2 gene DOID:630 genetic disease ISO RGD:1350228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11326333|PMID:15221797|PMID:17576681|PMID:22563562|PMID:25741868|PMID:26252088|PMID:28492532|PMID:9536098 12043299 TRAPPC2 trafficking protein particle complex subunit 2 gene DOID:65 connective tissue disease ISO RGD:1350228 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:11424925|PMID:25741868 12043299 TRAPPC2 trafficking protein particle complex subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12043319 SNX17 sorting nexin 17 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1315030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12043319 SNX17 sorting nexin 17 gene DOID:10584 retinitis pigmentosa ISO RGD:1315030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa 12043319 SNX17 sorting nexin 17 gene DOID:630 genetic disease ISO RGD:1315030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12043338 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:0050424 familial adenomatous polyposis ISO RGD:734270 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17559352 12043338 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:734270 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12043338 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:0080361 trimethylaminuria ISO RGD:734270 D RGD:7240710 20180130 OMIM 12043338 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:0080361 trimethylaminuria ISO RGD:734270 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Trimethylaminuria PMID:10338091|PMID:10479479|PMID:10898113|PMID:11136294|PMID:11191884|PMID:11266081|PMID:12228178|PMID:12527699|PMID:12678693|PMID:12814961|PMID:12893987|PMID:12938085|PMID:15203093|PMID:15618671|PMID:16296944|PMID:16600650|PMID:16601883|PMID:17096187|PMID:17224546|PMID:17329912|PMID:17531949|PMID:18028028|PMID:18423897|PMID:19321370|PMID:19577495|PMID:20301282|PMID:21422137|PMID:21451776|PMID:22819296|PMID:23567996|PMID:23791655|PMID:25741868|PMID:25870212|PMID:27118741|PMID:28196478|PMID:28392825|PMID:28492532|PMID:28649550|PMID:28743400|PMID:29555771|PMID:31180159|PMID:31240165|PMID:31589614|PMID:31980526|PMID:33831674|PMID:8401051|PMID:9282831|PMID:9398858|PMID:9536088|PMID:987532 12043338 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:10763 hypertension ISO RGD:734270 D RGD:9068941 20200609 RGD DNA:nonsense mutation:CDS:amino acid E305X, associated with trimethylaminuria, OMIM:602079 PMID:9536088|REF_RGD_ID:1626461 12043338 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:10763 hypertension no_association ISO RGD:734270 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:no association with any of the four common genotypes or haplotypes in a Caucasian population PMID:16324215|REF_RGD_ID:1626466 12043338 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:1540 parathyroid carcinoma ISO RGD:734270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12043338 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:630 genetic disease ISO RGD:734270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12043338 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:655 inherited metabolic disorder ISO RGD:734270 D RGD:9068941 20200609 RGD trimethylaminuria, OMIM:602079; DNA:nonsense mutation:CDS:amino acid E305X PMID:9536088|REF_RGD_ID:1626461 12043338 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734270 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24973094 12043338 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:734270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12043338 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12043359 DCTN1 dynactin subunit 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1603060 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:25741868|PMID:28492532 12043359 DCTN1 dynactin subunit 1 gene DOID:0050890 synucleinopathy ISO RGD:62038 D RGD:9068941 20200609 RGD PMID:19295143|REF_RGD_ID:11049591 12043359 DCTN1 dynactin subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603060 D RGD:7240710 20180130 OMIM 12043359 DCTN1 dynactin subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603060 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16240349|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18094236|PMID:18364389|PMID:18812314|PMID:18852346|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23881933|PMID:24484619|PMID:24627108|PMID:24881494|PMID:25025039|PMID:25299611|PMID:25382069|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:26742954|PMID:27132499|PMID:27573046|PMID:28130640|PMID:28166811|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28709720|PMID:28717666|PMID:28792508|PMID:29089398|PMID:29339765|PMID:29525180|PMID:29738522|PMID:31996268|PMID:32023010|PMID:32028661|PMID:32402491|PMID:33369814|PMID:9536098 12043359 DCTN1 dynactin subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603060 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16240349|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18812314|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23881933|PMID:24627108|PMID:25025039|PMID:25382069|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:27132499|PMID:28130640|PMID:28166811|PMID:28251916|PMID:28430856|PMID:28492532|PMID:29525180|PMID:29738522|PMID:30373780|PMID:32023010|PMID:32028661|PMID:32402491|PMID:33369814|PMID:9536098 12043359 DCTN1 dynactin subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603060 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16240349|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18812314|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23881933|PMID:24627108|PMID:25025039|PMID:25382069|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:27132499|PMID:28130640|PMID:28166811|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28717666|PMID:29525180|PMID:29738522|PMID:30373780|PMID:32023010|PMID:32028661|PMID:32402491|PMID:33369814|PMID:9536098 12043359 DCTN1 dynactin subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603060 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16240349|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18812314|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23881933|PMID:24627108|PMID:25025039|PMID:25382069|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:27132499|PMID:28130640|PMID:28166811|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28717666|PMID:29738522|PMID:30373780|PMID:32023010|PMID:32028661|PMID:32402491|PMID:33369814|PMID:9536098 12043359 DCTN1 dynactin subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603060 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16240349|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18094236|PMID:18364389|PMID:18812314|PMID:18852346|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23881933|PMID:24484619|PMID:24627108|PMID:24881494|PMID:25025039|PMID:25109764|PMID:25299611|PMID:25382069|PMID:25558820|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:26742954|PMID:27132499|PMID:27573046|PMID:28130640|PMID:28166811|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28518168|PMID:28709720|PMID:28717666|PMID:28792508|PMID:29339765|PMID:29525180|PMID:29738522|PMID:30373780|PMID:31996268|PMID:32023010|PMID:32028661|PMID:32325477|PMID:32397312|PMID:32402491|PMID:32461654|PMID:32712562|PMID:33369814|PMID:33601107|PMID:33973882|PMID:9536098 12043359 DCTN1 dynactin subunit 1 gene DOID:0060486 Perry syndrome ISO RGD:1603060 D RGD:7240710 20180130 OMIM 12043359 DCTN1 dynactin subunit 1 gene DOID:0060486 Perry syndrome ISO RGD:1603060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinsonism with alveolar hypoventilation and mental depression | ClinVar Annotator: match by term: Perry syndrome PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16505168|PMID:17824900|PMID:18094236|PMID:18364389|PMID:18812314|PMID:18852346|PMID:19136952|PMID:19279216|PMID:19506225|PMID:20437543|PMID:20945553|PMID:22777741|PMID:23143281|PMID:23628468|PMID:24343258|PMID:24484619|PMID:24627108|PMID:25025039|PMID:25299611|PMID:25382069|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:26742954|PMID:27132499|PMID:27573046|PMID:28130640|PMID:28166811|PMID:28430856|PMID:28492532|PMID:28518168|PMID:28792508|PMID:29525180|PMID:32028661|PMID:32402491|PMID:32461654|PMID:33369814|PMID:33973882 12043359 DCTN1 dynactin subunit 1 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1603060 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12043359 DCTN1 dynactin subunit 1 gene DOID:0080855 Parkinsonism ISO RGD:1603060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinsonism PMID:25741868|PMID:28492532|PMID:28518168|PMID:29525180|PMID:32461654 12043359 DCTN1 dynactin subunit 1 gene DOID:0111200 distal hereditary motor neuronopathy type 1 ISO RGD:1603060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor PMID:28492532 12043359 DCTN1 dynactin subunit 1 gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:1603060 D RGD:7240710 20180130 OMIM 12043359 DCTN1 dynactin subunit 1 gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:1603060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, TYPE VIIB | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7B PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18094236|PMID:18364389|PMID:18812314|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:24627108|PMID:25025039|PMID:25299611|PMID:25382069|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:26742954|PMID:27132499|PMID:27573046|PMID:28130640|PMID:28166811|PMID:28430856|PMID:28492532|PMID:28518168|PMID:28792508|PMID:29525180|PMID:32028661|PMID:32402491|PMID:32461654|PMID:33369814|PMID:33973882|PMID:9536098 12043359 DCTN1 dynactin subunit 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1603060 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:15326253|PMID:18812314|PMID:19506225|PMID:23143281|PMID:24604904|PMID:24627108|PMID:25025039|PMID:25741868|PMID:28492532 12043359 DCTN1 dynactin subunit 1 gene DOID:1289 neurodegenerative disease ISO RGD:62330 D RGD:9068941 20200609 RGD PMID:18364389|REF_RGD_ID:5539209 12043359 DCTN1 dynactin subunit 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1603060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to PMID:15326253|PMID:16240349|PMID:17824900|PMID:18812314|PMID:19506225|PMID:22777741|PMID:23143281|PMID:25025039|PMID:25382069|PMID:25741868|PMID:26429889|PMID:26467025|PMID:26662454|PMID:27132499|PMID:28130640|PMID:28430856|PMID:28492532|PMID:28717666 12043359 DCTN1 dynactin subunit 1 gene DOID:3324 mood disorder ISO RGD:1603060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19136952 12043359 DCTN1 dynactin subunit 1 gene DOID:543 dystonia ISO RGD:1603060 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:25741868|PMID:28492532|PMID:30682498 12043359 DCTN1 dynactin subunit 1 gene DOID:574 peripheral nervous system disease ISO RGD:1603060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 12043359 DCTN1 dynactin subunit 1 gene DOID:630 genetic disease ISO RGD:1603060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15326253|PMID:16199547|PMID:16240349|PMID:17576681|PMID:18812314|PMID:19506225|PMID:23143281|PMID:24627108|PMID:25025039|PMID:25299611|PMID:25382069|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662454|PMID:27132499|PMID:28166811|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28518168|PMID:28709720|PMID:28717666|PMID:29525180|PMID:30270202|PMID:32023010|PMID:32028661|PMID:32397312|PMID:32461654|PMID:33369814|PMID:9536098 12043359 DCTN1 dynactin subunit 1 gene DOID:870 neuropathy ISO RGD:1603060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 12043359 DCTN1 dynactin subunit 1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1603060 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12043359 DCTN1 dynactin subunit 1 gene DOID:9003671 Hypoventilation ISO RGD:1603060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19136952 12043359 DCTN1 dynactin subunit 1 gene DOID:9255 frontotemporal dementia ISO RGD:1603060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:28492532 12043423 IL2RB interleukin 2 receptor subunit beta gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:737611 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12043423 IL2RB interleukin 2 receptor subunit beta gene DOID:0080600 COVID-19 severity ISO RGD:737611 D RGD:9068941 20200625 RGD protein:increased expression:serum (human) PMID:32297828|REF_RGD_ID:32716368 12043423 IL2RB interleukin 2 receptor subunit beta gene DOID:0090036 myoclonic dystonia 26 ISO RGD:737611 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12043423 IL2RB interleukin 2 receptor subunit beta gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:737611 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12043423 IL2RB interleukin 2 receptor subunit beta gene DOID:0111997 immunodeficiency 63 ISO RGD:737611 D RGD:7240710 20190731 OMIM 12043423 IL2RB interleukin 2 receptor subunit beta gene DOID:0111997 immunodeficiency 63 ISO RGD:737611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 63 with lymphoproliferation and autoimmunity PMID:25741868|PMID:28492532|PMID:31040185 12043423 IL2RB interleukin 2 receptor subunit beta gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:737611 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12043423 IL2RB interleukin 2 receptor subunit beta gene DOID:1205 allergic disease ISO RGD:737611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12043423 IL2RB interleukin 2 receptor subunit beta gene DOID:1697 ichthyosis ISO RGD:737611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ichthyosis 12043423 IL2RB interleukin 2 receptor subunit beta gene DOID:2043 hepatitis B disease_progression ISO RGD:737611 D RGD:9068941 20210312 RGD PMID:29307521|REF_RGD_ID:42724467 12043423 IL2RB interleukin 2 receptor subunit beta gene DOID:2113 coccidiosis exacerbates ISO RGD:732849 D RGD:9068941 20210312 RGD PMID:20460838|REF_RGD_ID:42724464 12043423 IL2RB interleukin 2 receptor subunit beta gene DOID:2841 asthma ISO RGD:732849 D RGD:9068941 20200609 RGD PMID:18641329|REF_RGD_ID:5147447 12043423 IL2RB interleukin 2 receptor subunit beta gene DOID:2841 asthma ISO RGD:737611 D RGD:9068941 20200609 RGD DNA:SNP: :rs2284033 (human) PMID:20860503|REF_RGD_ID:5024942 12043423 IL2RB interleukin 2 receptor subunit beta gene DOID:350 mastocytosis ISO RGD:732849 D RGD:9068941 20210312 RGD PMID:21301182|REF_RGD_ID:42724469 12043423 IL2RB interleukin 2 receptor subunit beta gene DOID:417 autoimmune disease ISO RGD:732849 D RGD:9068941 20200609 RGD PMID:12196288|REF_RGD_ID:5684380 12043423 IL2RB interleukin 2 receptor subunit beta gene DOID:437 myasthenia gravis ISO RGD:737611 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:intron:c.-33-11362T>C (rs743777) (human) PMID:20728947|REF_RGD_ID:5684377 12043423 IL2RB interleukin 2 receptor subunit beta gene DOID:552 pneumonia ISO RGD:737611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12043423 IL2RB interleukin 2 receptor subunit beta gene DOID:630 genetic disease ISO RGD:737611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12043423 IL2RB interleukin 2 receptor subunit beta gene DOID:7148 rheumatoid arthritis ISO RGD:737611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 12043423 IL2RB interleukin 2 receptor subunit beta gene DOID:883 parasitic helminthiasis infectious disease ameliorates ISO RGD:732849 D RGD:9068941 20210312 RGD PMID:21301182|REF_RGD_ID:42724469 12043423 IL2RB interleukin 2 receptor subunit beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12043423 IL2RB interleukin 2 receptor subunit beta gene DOID:9004283 Transplant Rejection ameliorates ISO RGD:732849 D RGD:9068941 20210312 RGD PMID:9293878|REF_RGD_ID:42733040 12043423 IL2RB interleukin 2 receptor subunit beta gene DOID:9005106 Animal Toxoplasmosis ameliorates ISO RGD:732849 D RGD:9068941 20210312 RGD PMID:11286020|REF_RGD_ID:42724468 12043423 IL2RB interleukin 2 receptor subunit beta gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:737611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 12043423 IL2RB interleukin 2 receptor subunit beta gene DOID:9007329 Human Viral Hepatitis ISO RGD:737611 D RGD:9068941 20210312 RGD protein:decreased expression:peripheral blood lymphocyte PMID:1325198|REF_RGD_ID:42724465 12043423 IL2RB interleukin 2 receptor subunit beta gene DOID:9008707 Viremia ISO RGD:737611 D RGD:9068941 20210312 RGD PMID:29307521|REF_RGD_ID:42724467 12043423 IL2RB interleukin 2 receptor subunit beta gene DOID:9146 visceral leishmaniasis susceptibility ISO RGD:737611 D RGD:9068941 20210312 RGD DNA:polymorphisms:exon:8777, 8838(human) PMID:17108990|REF_RGD_ID:42724466 12043423 IL2RB interleukin 2 receptor subunit beta gene DOID:9744 type 1 diabetes mellitus ameliorates ISO RGD:732849 D RGD:9068941 20210312 RGD PMID:29367461|REF_RGD_ID:42733039 12043437 DCAF6 DDB1 and CUL4 associated factor 6 gene DOID:0111942 immunodeficiency 25 ISO RGD:1350946 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 12043437 DCAF6 DDB1 and CUL4 associated factor 6 gene DOID:12336 male infertility ISO RGD:1350946 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Male infertility 12043437 DCAF6 DDB1 and CUL4 associated factor 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1350946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12043437 DCAF6 DDB1 and CUL4 associated factor 6 gene DOID:630 genetic disease ISO RGD:1350946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12043437 DCAF6 DDB1 and CUL4 associated factor 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 12043437 DCAF6 DDB1 and CUL4 associated factor 6 gene DOID:9005047 Hypercalciuria, Absorptive, 2 ISO RGD:1350946 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial idiopathic hypercalciuria PMID:11932268|PMID:17576681|PMID:25741868|PMID:26787776|PMID:28492532|PMID:9536098 12043437 DCAF6 DDB1 and CUL4 associated factor 6 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1350946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 12043437 DCAF6 DDB1 and CUL4 associated factor 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12043473 CAMKK1 calcium/calmodulin dependent protein kinase kinase 1 gene DOID:3613 Canavan disease ISO RGD:1349409 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:12638939|PMID:19932039|PMID:28492532 12043473 CAMKK1 calcium/calmodulin dependent protein kinase kinase 1 gene DOID:630 genetic disease ISO RGD:1349409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12043473 CAMKK1 calcium/calmodulin dependent protein kinase kinase 1 gene DOID:863 nervous system disease ISO RGD:1349409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 12043493 SNRPB small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:733493 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12043493 SNRPB small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:0111248 cerebrocostomandibular syndrome ISO RGD:733493 D RGD:7240710 20180130 OMIM 12043493 SNRPB small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:0111248 cerebrocostomandibular syndrome ISO RGD:733493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebro-costo-mandibular syndrome PMID:25047197|PMID:25504470|PMID:25741868|PMID:26240113|PMID:26971886 12043493 SNRPB small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:1059 intellectual disability ISO RGD:733493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities 12043493 SNRPB small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:3492 mixed connective tissue disease ISO RGD:733493 D RGD:9068941 20200609 RGD PMID:2968364|REF_RGD_ID:10448928 12043493 SNRPB small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:3910 lung adenocarcinoma severity ISO RGD:733493 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:22876301|REF_RGD_ID:10768834 12043493 SNRPB small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:733493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12043493 SNRPB small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:733493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pierre Robin Syndrome 12043493 SNRPB small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:630 genetic disease ISO RGD:733493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12043493 SNRPB small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:9000217 Stomach Neoplasms ISO RGD:733493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12043493 SNRPB small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:9000918 Disease Progression ISO RGD:733493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12043536 DENR density regulated re-initiation and release factor gene DOID:630 genetic disease ISO RGD:1351149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12043572 FERD3L Fer3 like bHLH transcription factor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12043572 FERD3L Fer3 like bHLH transcription factor gene DOID:630 genetic disease ISO RGD:1323462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12043581 DUSP22 dual specificity phosphatase 22 gene DOID:13938 amenorrhea ISO RGD:1316166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12043581 DUSP22 dual specificity phosphatase 22 gene DOID:630 genetic disease ISO RGD:1316166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12043605 LLGL1 LLGL scribble cell polarity complex component 1 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:733152 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 12043605 LLGL1 LLGL scribble cell polarity complex component 1 gene DOID:0050777 Joubert syndrome ISO RGD:733152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12043605 LLGL1 LLGL scribble cell polarity complex component 1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:733152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12043605 LLGL1 LLGL scribble cell polarity complex component 1 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:733152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12043605 LLGL1 LLGL scribble cell polarity complex component 1 gene DOID:10908 hydrocephalus ISO RGD:733153 D RGD:9068941 20200609 RGD PMID:15037549|REF_RGD_ID:1300301 12043605 LLGL1 LLGL scribble cell polarity complex component 1 gene DOID:12849 autistic disorder ISO RGD:733152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12043605 LLGL1 LLGL scribble cell polarity complex component 1 gene DOID:630 genetic disease ISO RGD:733152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12043605 LLGL1 LLGL scribble cell polarity complex component 1 gene DOID:9008939 Breast Neoplasms ISO RGD:733152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 12043634 GRAMD1B GRAM domain containing 1B gene DOID:1059 intellectual disability ISO RGD:1606522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 12043634 GRAMD1B GRAM domain containing 1B gene DOID:5419 schizophrenia ISO RGD:1606522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12043634 GRAMD1B GRAM domain containing 1B gene DOID:630 genetic disease ISO RGD:1606522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12043634 GRAMD1B GRAM domain containing 1B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12043634 GRAMD1B GRAM domain containing 1B gene DOID:9007661 Dwarfism ISO RGD:1606522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12043693 LOC100976643 general transcription factor II-I repeat domain-containing protein 2B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12043693 LOC100976643 general transcription factor II-I repeat domain-containing protein 2B gene DOID:630 genetic disease ISO RGD:1604691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12043693 LOC100976643 general transcription factor II-I repeat domain-containing protein 2B gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1604691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 12043726 ACSS2 acyl-CoA synthetase short chain family member 2 gene DOID:0050567 orofacial cleft ISO RGD:1313544 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.V496A (rs59088485) (human) PMID:27229527|PMID:28543373|REF_RGD_ID:13831307|REF_RGD_ID:13831309 12043726 ACSS2 acyl-CoA synthetase short chain family member 2 gene DOID:11981 morbid obesity treatment ISO RGD:1313544 D RGD:9068941 20200609 RGD PMID:22384010|REF_RGD_ID:13831306 12043726 ACSS2 acyl-CoA synthetase short chain family member 2 gene DOID:2843 long QT syndrome ISO RGD:1313544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12043726 ACSS2 acyl-CoA synthetase short chain family member 2 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:1313544 D RGD:9068941 20220630 RGD protein:increased expression:lung (human) PMID:29885404|REF_RGD_ID:152995523 12043726 ACSS2 acyl-CoA synthetase short chain family member 2 gene DOID:630 genetic disease ISO RGD:1313544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12043726 ACSS2 acyl-CoA synthetase short chain family member 2 gene DOID:9004118 Experimental Melanoma treatment ISO RGD:1313544 D RGD:9068941 20200609 RGD PMID:27539851|REF_RGD_ID:13831304 12043726 ACSS2 acyl-CoA synthetase short chain family member 2 gene DOID:9005372 Inflammation ISO RGD:1313544 D RGD:9068941 20200609 RGD associated with nonalcoholic fatty liver disease PMID:25533197|REF_RGD_ID:13831308 12043749 ZFP92 ZFP92 zinc finger protein gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1344727 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12043749 ZFP92 ZFP92 zinc finger protein gene DOID:0050476 Barth syndrome ISO RGD:1344727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12043749 ZFP92 ZFP92 zinc finger protein gene DOID:0050800 creatine transporter deficiency ISO RGD:1344727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12043749 ZFP92 ZFP92 zinc finger protein gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12043749 ZFP92 ZFP92 zinc finger protein gene DOID:10588 adrenoleukodystrophy ISO RGD:1344727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12043749 ZFP92 ZFP92 zinc finger protein gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1344727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12043749 ZFP92 ZFP92 zinc finger protein gene DOID:12849 autistic disorder ISO RGD:1344727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12043749 ZFP92 ZFP92 zinc finger protein gene DOID:13628 favism ISO RGD:1344727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12043749 ZFP92 ZFP92 zinc finger protein gene DOID:2729 dyskeratosis congenita ISO RGD:1344727 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12043749 ZFP92 ZFP92 zinc finger protein gene DOID:607 paraplegia ISO RGD:1344727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12043749 ZFP92 ZFP92 zinc finger protein gene DOID:630 genetic disease ISO RGD:1344727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12043758 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:0060194 juvenile amyotrophic lateral sclerosis 2 ISO RGD:1321241 D RGD:7240710 20180130 OMIM 12043758 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:0060194 juvenile amyotrophic lateral sclerosis 2 ISO RGD:1321241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ALS2-Related Spectrum Disorders | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 2 PMID:11586297|PMID:11586298|PMID:14676054|PMID:16240357|PMID:16321985|PMID:17576681|PMID:18852346|PMID:20077034|PMID:2328408|PMID:23881933|PMID:24315819|PMID:24562058|PMID:25174650|PMID:25558820|PMID:25588603|PMID:25741868|PMID:26257771|PMID:26467025|PMID:27159321|PMID:27790088|PMID:28430856|PMID:28492532|PMID:28600779|PMID:28832565|PMID:29605155|PMID:30054184|PMID:30224357|PMID:31182772|PMID:32214227|PMID:7920663|PMID:9536098 12043758 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1321241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12043758 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1321241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12043758 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:0110983 Joubert syndrome 14 ISO RGD:1321241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 14 PMID:11586298|PMID:22152675|PMID:24315819|PMID:28492532 12043758 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:10907 microcephaly ISO RGD:1321241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12043758 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:14557 primary pulmonary hypertension ISO RGD:1321241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:16429395|PMID:16429403|PMID:27453251|PMID:28492532|PMID:29743074 12043758 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1321241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:14676054|PMID:17576681|PMID:18852346|PMID:20077034|PMID:23881933|PMID:25174650|PMID:25363768|PMID:25558820|PMID:25741868|PMID:26257771|PMID:26467025|PMID:27790088|PMID:28407358|PMID:28492532|PMID:28714951|PMID:28832565|PMID:31182772|PMID:34011629|PMID:9536098 12043758 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1321241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease PMID:11586298|PMID:16199547|PMID:24315819|PMID:25741868|PMID:28492532|PMID:28832565 12043758 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:332 amyotrophic lateral sclerosis susceptibility ISO RGD:1321241 D RGD:9068941 20200609 RGD PMID:11586297|REF_RGD_ID:1599080 12043758 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:630 genetic disease ISO RGD:1321241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11586298|PMID:24315819|PMID:25741868|PMID:26467025|PMID:27159321|PMID:28492532 12043758 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:7319 axonal neuropathy ISO RGD:1321241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral axonal neuropathy PMID:25741868|PMID:26467025|PMID:28492532 12043758 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9000276 Juvenile Amyotrophic Lateral Sclerosis ISO RGD:1321241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis PMID:11586297|PMID:11586298|PMID:14676054|PMID:16240357|PMID:16321985|PMID:17576681|PMID:18852346|PMID:20077034|PMID:2328408|PMID:23881933|PMID:24315819|PMID:24562058|PMID:25174650|PMID:25588603|PMID:25741868|PMID:26467025|PMID:27159321|PMID:27790088|PMID:28430856|PMID:28492532|PMID:28600779|PMID:28832565|PMID:29605155|PMID:30054184|PMID:30224357|PMID:31182772|PMID:32214227|PMID:7920663|PMID:9536098 12043758 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1321241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12043758 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12043758 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9004896 Primary Lateral Sclerosis Juvenile ISO RGD:1321241 D RGD:7240710 20180130 OMIM 12043758 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9004896 Primary Lateral Sclerosis Juvenile ISO RGD:1321241 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Juvenile primary lateral sclerosis | ClinVar Annotator: match by term: PLS juvenile PMID:11586297|PMID:11586298|PMID:14676054|PMID:16240357|PMID:19122027|PMID:24315819|PMID:25741868|PMID:26467025|PMID:27159321|PMID:27601211|PMID:28492532|PMID:31182772|PMID:32214227 12043758 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9005843 Hereditary Spastic Paralysis, Infantile Onset Ascending ISO RGD:1321241 D RGD:7240710 20180130 OMIM 12043758 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9005843 Hereditary Spastic Paralysis, Infantile Onset Ascending ISO RGD:1321241 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis | ClinVar Annotator: match by term: Spastic paralysis, infantile onset ascending PMID:11586297|PMID:11586298|PMID:12145748|PMID:12509863|PMID:12919135|PMID:14676054|PMID:16199547|PMID:16718699|PMID:17576681|PMID:18523452|PMID:18852346|PMID:20077034|PMID:22152675|PMID:23881933|PMID:24315819|PMID:24562058|PMID:25174650|PMID:25302125|PMID:25363768|PMID:25558820|PMID:25588603|PMID:25741868|PMID:26257771|PMID:26467025|PMID:26742954|PMID:27159321|PMID:27601211|PMID:27790088|PMID:28160950|PMID:28407358|PMID:28430856|PMID:28492532|PMID:28600779|PMID:28709720|PMID:28714951|PMID:28832565|PMID:29605155|PMID:30054184|PMID:30128655|PMID:30224357|PMID:30581417|PMID:31182772|PMID:31405128|PMID:32214227|PMID:33409823|PMID:33589474|PMID:34011629|PMID:9536098 12043758 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1321241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12043758 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9008086 Developmental Disabilities ISO RGD:1321241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:32581362 12043758 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9009017 Amyotrophic Lateral Sclerosis, Autosomal Recessive ISO RGD:1321241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive PMID:25741868|PMID:28492532 12043826 CPT2 carnitine palmitoyltransferase 2 gene DOID:0060235 carnitine palmitoyltransferase II deficiency ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:12200419|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16225172|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:1999498|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26010953|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:26636822|PMID:27067077|PMID:27123472|PMID:27525900|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29478820|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30609409|PMID:31517061|PMID:32295037|PMID:32489884|PMID:33123633|PMID:33532864|PMID:34063237|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712 12043826 CPT2 carnitine palmitoyltransferase 2 gene DOID:0060235 carnitine palmitoyltransferase II deficiency ISO RGD:736835 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:12200419|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16225172|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:1999498|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26010953|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:26636822|PMID:27067077|PMID:27123472|PMID:27525900|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:29478820|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30609409|PMID:32295037|PMID:32489884|PMID:33123633|PMID:33532864|PMID:34063237|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712 12043826 CPT2 carnitine palmitoyltransferase 2 gene DOID:0060235 carnitine palmitoyltransferase II deficiency ISO RGD:736835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:12200419|PMID:12362414|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:12809643|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:1999498|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26010953|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:26636822|PMID:27067077|PMID:27123472|PMID:27525900|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30293990|PMID:30455135|PMID:30609409|PMID:30881520|PMID:30912279|PMID:31372341|PMID:31770251|PMID:32295037|PMID:32489884|PMID:33123633|PMID:33532864|PMID:34063237|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712 12043826 CPT2 carnitine palmitoyltransferase 2 gene DOID:0060235 carnitine palmitoyltransferase II deficiency ISO RGD:736835 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12200419|PMID:12362414|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:12809643|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:1999498|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26010953|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:26636822|PMID:27067077|PMID:27123472|PMID:27525900|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30293990|PMID:30455135|PMID:30609409|PMID:30881520|PMID:30912279|PMID:31372341|PMID:31770251|PMID:32295037|PMID:32489884|PMID:32528171|PMID:33123633|PMID:33532864|PMID:34063237|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712 12043826 CPT2 carnitine palmitoyltransferase 2 gene DOID:0080000 muscular disease ISO RGD:736835 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:25741868 12043826 CPT2 carnitine palmitoyltransferase 2 gene DOID:10907 microcephaly ISO RGD:736835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12043826 CPT2 carnitine palmitoyltransferase 2 gene DOID:12450 pancytopenia ISO RGD:736835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancytopenia PMID:10090476|PMID:12410208|PMID:12707442|PMID:15622536|PMID:16996287|PMID:17936304|PMID:20301431|PMID:22975760|PMID:25741868|PMID:28492532|PMID:7711730|PMID:9600456 12043826 CPT2 carnitine palmitoyltransferase 2 gene DOID:1826 epilepsy ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizure PMID:12673791|PMID:17709715|PMID:18363739|PMID:20301431|PMID:21227726|PMID:22854105|PMID:23700290|PMID:25741868|PMID:25919294|PMID:28492532|PMID:28516040|PMID:8682496|PMID:9600456 12043826 CPT2 carnitine palmitoyltransferase 2 gene DOID:3146 lipid metabolism disorder ISO RGD:736835 D RGD:9068941 20200609 RGD infantile form CPT2 deficiency, OMIM:600649, R631C PMID:1528846|REF_RGD_ID:1600742 12043826 CPT2 carnitine palmitoyltransferase 2 gene DOID:423 myopathy ISO RGD:736835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 12043826 CPT2 carnitine palmitoyltransferase 2 gene DOID:630 genetic disease ISO RGD:736835 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16615913|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:2762996|PMID:27629963|PMID:28492532|PMID:28779239|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:32295037|PMID:736528|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456 12043826 CPT2 carnitine palmitoyltransferase 2 gene DOID:848 arthritis ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arthritis PMID:10090476|PMID:12410208|PMID:12707442|PMID:15622536|PMID:16996287|PMID:17936304|PMID:20301431|PMID:22975760|PMID:25741868|PMID:28492532|PMID:7711730|PMID:9600456 12043826 CPT2 carnitine palmitoyltransferase 2 gene DOID:9000884 Rhabdomyolysis ISO RGD:736835 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:2762996|PMID:27629963|PMID:28492532|PMID:28779239|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:32295037|PMID:736528|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456 12043826 CPT2 carnitine palmitoyltransferase 2 gene DOID:9001501 Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal ISO RGD:736835 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL | ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, NEONATAL | ClinVar Annotator: match by term: CPT2 DEFICIENCY, LETHAL NEONATAL | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal PMID:10090476|PMID:10398215|PMID:10607472|PMID:10862092|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19762733|PMID:20301431|PMID:20810031|PMID:20934285|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22652984|PMID:22854105|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23700290|PMID:23757202|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27525900|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28492532|PMID:28516040|PMID:28600779|PMID:28779239|PMID:28871440|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30455135|PMID:30609409|PMID:31372341|PMID:32295037|PMID:32528171|PMID:33123633|PMID:33532864|PMID:34063237|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9562964|PMID:9600456|PMID:9758712 12043826 CPT2 carnitine palmitoyltransferase 2 gene DOID:9001501 Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal susceptibility ISO RGD:736835 D RGD:7240710 20230517 OMIM 12043826 CPT2 carnitine palmitoyltransferase 2 gene DOID:9003171 Primary Dysautonomias ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dysautonomia PMID:10090476|PMID:12410208|PMID:12707442|PMID:15622536|PMID:16996287|PMID:17936304|PMID:20301431|PMID:22975760|PMID:25741868|PMID:28492532|PMID:7711730|PMID:9600456 12043826 CPT2 carnitine palmitoyltransferase 2 gene DOID:9003830 Primary Aldosteronism, Seizures, and Neurologic Abnormalities ISO RGD:736835 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities PMID:10090476|PMID:18550408|PMID:20301431|PMID:21709843|PMID:25741868|PMID:25827434|PMID:28492532|PMID:9758712 12043826 CPT2 carnitine palmitoyltransferase 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:10090476|PMID:10607472|PMID:11257506|PMID:12673791|PMID:12707442|PMID:15642848|PMID:16615913|PMID:18550408|PMID:18925671|PMID:24398345|PMID:24602495|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34063237 12043826 CPT2 carnitine palmitoyltransferase 2 gene DOID:9005627 Metabolic Brain Diseases ISO RGD:736835 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21816645 12043826 CPT2 carnitine palmitoyltransferase 2 gene DOID:9006534 Nervous System Malformations ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:12673791|PMID:17709715|PMID:18363739|PMID:20301431|PMID:21227726|PMID:22854105|PMID:23700290|PMID:25741868|PMID:25919294|PMID:28492532|PMID:28516040|PMID:8682496|PMID:9600456 12043826 CPT2 carnitine palmitoyltransferase 2 gene DOID:9006638 Sinus Tachycardia ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sinus tachycardia PMID:10090476|PMID:12410208|PMID:12707442|PMID:15622536|PMID:16996287|PMID:17936304|PMID:20301431|PMID:22975760|PMID:25741868|PMID:28492532|PMID:7711730|PMID:9600456 12043826 CPT2 carnitine palmitoyltransferase 2 gene DOID:9007573 Flatfoot ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: flatfoot PMID:10090476|PMID:10607472|PMID:11257506|PMID:12673791|PMID:12707442|PMID:15642848|PMID:16615913|PMID:18550408|PMID:18925671|PMID:24398345|PMID:24602495|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34063237 12043826 CPT2 carnitine palmitoyltransferase 2 gene DOID:9007623 Late-Onset Carnitine Palmitoyltransferase II Deficiency ISO RGD:736835 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, late-onset | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced PMID:10090476|PMID:10398215|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12410208|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:16168441|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:19762733|PMID:1999498|PMID:20301431|PMID:20661589|PMID:20810031|PMID:21227726|PMID:21709843|PMID:21913903|PMID:22652984|PMID:22854105|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23700290|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28492532|PMID:28516040|PMID:28600779|PMID:28779239|PMID:28871440|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30455135|PMID:30609409|PMID:31372341|PMID:32295037|PMID:32528171|PMID:33123633|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9562964|PMID:9600456|PMID:9758712 12043826 CPT2 carnitine palmitoyltransferase 2 gene DOID:9007623 Late-Onset Carnitine Palmitoyltransferase II Deficiency susceptibility ISO RGD:736835 D RGD:7240710 20230517 OMIM 12043826 CPT2 carnitine palmitoyltransferase 2 gene DOID:9007668 Carnitine Palmitoyltransferase II Deficiency, Infantile ISO RGD:736835 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CPT2 DEFICIENCY, INFANTILE | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile PMID:10090476|PMID:10398215|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12410208|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19762733|PMID:1999498|PMID:20301431|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23700290|PMID:23757202|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26636822|PMID:27067077|PMID:27123472|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28600779|PMID:28779239|PMID:28871440|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30455135|PMID:30609409|PMID:31372341|PMID:31770251|PMID:32295037|PMID:32528171|PMID:33123633|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712 12043826 CPT2 carnitine palmitoyltransferase 2 gene DOID:9007668 Carnitine Palmitoyltransferase II Deficiency, Infantile susceptibility ISO RGD:736835 D RGD:7240710 20230517 OMIM 12043826 CPT2 carnitine palmitoyltransferase 2 gene DOID:9008214 Genu Valgum ISO RGD:736835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genu valgum PMID:10090476|PMID:10607472|PMID:11257506|PMID:12673791|PMID:12707442|PMID:15642848|PMID:16615913|PMID:18550408|PMID:18925671|PMID:24398345|PMID:24602495|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34063237 12043826 CPT2 carnitine palmitoyltransferase 2 gene DOID:9008520 Chronic Pain ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chronic pain PMID:10090476|PMID:12410208|PMID:12707442|PMID:15622536|PMID:16996287|PMID:17936304|PMID:20301431|PMID:22975760|PMID:25741868|PMID:28492532|PMID:7711730|PMID:9600456 12043826 CPT2 carnitine palmitoyltransferase 2 gene DOID:936 brain disease ISO RGD:736835 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 4 PMID:10090476|PMID:10398215|PMID:10862092|PMID:10873395|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12410208|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:16168441|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:19762733|PMID:20301431|PMID:20810031|PMID:21227726|PMID:21709843|PMID:21913903|PMID:22652984|PMID:22854105|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23700290|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28492532|PMID:28516040|PMID:28779239|PMID:28871440|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30455135|PMID:30609409|PMID:31372341|PMID:32295037|PMID:32528171|PMID:33123633|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9562964|PMID:9600456|PMID:9758712 12043826 CPT2 carnitine palmitoyltransferase 2 gene DOID:936 brain disease susceptibility ISO RGD:736835 D RGD:7240710 20230517 OMIM 12043835 USP37 ubiquitin specific peptidase 37 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1315889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12043835 USP37 ubiquitin specific peptidase 37 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1315889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12043835 USP37 ubiquitin specific peptidase 37 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1315889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12043835 USP37 ubiquitin specific peptidase 37 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1315889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12043835 USP37 ubiquitin specific peptidase 37 gene DOID:630 genetic disease ISO RGD:1315889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12043835 USP37 ubiquitin specific peptidase 37 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12043880 F2RL2 coagulation factor II thrombin receptor like 2 gene DOID:630 genetic disease ISO RGD:1348825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12043880 F2RL2 coagulation factor II thrombin receptor like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12043889 PAIP2B poly(A) binding protein interacting protein 2B gene DOID:543 dystonia ISO RGD:1605487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12043889 PAIP2B poly(A) binding protein interacting protein 2B gene DOID:630 genetic disease ISO RGD:1605487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12043889 PAIP2B poly(A) binding protein interacting protein 2B gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1605487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12043905 STH saitohin gene DOID:0050880 Koolen de Vries syndrome ISO RGD:1604195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Koolen-de Vries syndrome PMID:18628315|PMID:21094706|PMID:28492532 12043905 STH saitohin gene DOID:1059 intellectual disability ISO RGD:1604195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12043905 STH saitohin gene DOID:630 genetic disease ISO RGD:1604195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12043905 STH saitohin gene DOID:9255 frontotemporal dementia ISO RGD:1604195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:18628315|PMID:21094706|PMID:23752245|PMID:28492532|PMID:31059154 12043910 ABCG4 ATP binding cassette subfamily G member 4 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1314115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12043910 ABCG4 ATP binding cassette subfamily G member 4 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1314115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12043910 ABCG4 ATP binding cassette subfamily G member 4 gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1314115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:22742743|PMID:28492532 12043910 ABCG4 ATP binding cassette subfamily G member 4 gene DOID:0080690 RASopathy ISO RGD:1314115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:22742743|PMID:28492532 12043910 ABCG4 ATP binding cassette subfamily G member 4 gene DOID:0110651 long QT syndrome 10 ISO RGD:1314115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12043910 ABCG4 ATP binding cassette subfamily G member 4 gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1314115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates PMID:22742743|PMID:28492532 12043910 ABCG4 ATP binding cassette subfamily G member 4 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1314115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12043910 ABCG4 ATP binding cassette subfamily G member 4 gene DOID:0111971 immunodeficiency 18 ISO RGD:1314115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12043910 ABCG4 ATP binding cassette subfamily G member 4 gene DOID:0111972 immunodeficiency 19 ISO RGD:1314115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12043910 ABCG4 ATP binding cassette subfamily G member 4 gene DOID:0111973 immunodeficiency 17 ISO RGD:1314115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12043910 ABCG4 ATP binding cassette subfamily G member 4 gene DOID:10283 prostate cancer ISO RGD:1314115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12043910 ABCG4 ATP binding cassette subfamily G member 4 gene DOID:5419 schizophrenia ISO RGD:1314115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12043910 ABCG4 ATP binding cassette subfamily G member 4 gene DOID:630 genetic disease ISO RGD:1314115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12043910 ABCG4 ATP binding cassette subfamily G member 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1314115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12043910 ABCG4 ATP binding cassette subfamily G member 4 gene DOID:9007661 Dwarfism ISO RGD:1314115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12043948 KMT5B lysine methyltransferase 5B gene DOID:0060041 autism spectrum disorder ISO RGD:1348608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:25363768|PMID:25741868|PMID:28191889|PMID:30504930 12043948 KMT5B lysine methyltransferase 5B gene DOID:0080074 neural tube defect ISO RGD:1348608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:25741868|PMID:29276005 12043948 KMT5B lysine methyltransferase 5B gene DOID:0080232 autosomal dominant intellectual developmental disorder 51 ISO RGD:1348608 D RGD:7240710 20190315 OMIM 12043948 KMT5B lysine methyltransferase 5B gene DOID:0080232 autosomal dominant intellectual developmental disorder 51 ISO RGD:1348608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 51 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 PMID:25363768|PMID:25741868|PMID:28191889|PMID:29276005|PMID:30504930 12043948 KMT5B lysine methyltransferase 5B gene DOID:1059 intellectual disability ISO RGD:1348608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12043948 KMT5B lysine methyltransferase 5B gene DOID:5419 schizophrenia ISO RGD:1348608 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12043948 KMT5B lysine methyltransferase 5B gene DOID:630 genetic disease ISO RGD:1348608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12043948 KMT5B lysine methyltransferase 5B gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1348608 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12043948 KMT5B lysine methyltransferase 5B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 12043948 KMT5B lysine methyltransferase 5B gene DOID:9005466 Language Development Disorders ISO RGD:1348608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Language retardation 12043948 KMT5B lysine methyltransferase 5B gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1348608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12043948 KMT5B lysine methyltransferase 5B gene DOID:9008086 Developmental Disabilities ISO RGD:1348608 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12043966 PPM1K protein phosphatase, Mg2+/Mn2+ dependent 1K gene DOID:6000 congestive heart failure ISO RGD:1353112 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12043966 PPM1K protein phosphatase, Mg2+/Mn2+ dependent 1K gene DOID:630 genetic disease ISO RGD:1353112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12043966 PPM1K protein phosphatase, Mg2+/Mn2+ dependent 1K gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1353112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 12043966 PPM1K protein phosphatase, Mg2+/Mn2+ dependent 1K gene DOID:9269 maple syrup urine disease ISO RGD:1353112 D RGD:7240710 20180130 OMIM 12043966 PPM1K protein phosphatase, Mg2+/Mn2+ dependent 1K gene DOID:9269 maple syrup urine disease ISO RGD:1353112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease, mild variant PMID:17576681|PMID:23086801|PMID:28492532|PMID:9536098 12043982 HEBP2 heme binding protein 2 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1323071 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12043982 HEBP2 heme binding protein 2 gene DOID:10283 prostate cancer ISO RGD:1323071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12043982 HEBP2 heme binding protein 2 gene DOID:630 genetic disease ISO RGD:1323071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12043982 HEBP2 heme binding protein 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1323071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 12043989 ASCL4 achaete-scute family bHLH transcription factor 4 gene DOID:630 genetic disease ISO RGD:1316784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044015 FADD Fas associated via death domain gene DOID:0060108 brain glioma treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:27255231|REF_RGD_ID:13792502 12044015 FADD Fas associated via death domain gene DOID:0060482 oculoauricular syndrome ISO RGD:1345195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17656375 12044015 FADD Fas associated via death domain gene DOID:10003 sensorineural hearing loss ISO RGD:1345195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17656375 12044015 FADD Fas associated via death domain gene DOID:1059 intellectual disability ISO RGD:1345195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12044015 FADD Fas associated via death domain gene DOID:10652 Alzheimer's disease ISO RGD:1345195 D RGD:9068941 20200609 RGD PMID:16085017|REF_RGD_ID:13782385 12044015 FADD Fas associated via death domain gene DOID:10763 hypertension treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:24355328|REF_RGD_ID:11344883 12044015 FADD Fas associated via death domain gene DOID:11132 prostatic hypertrophy treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:27441629|REF_RGD_ID:13792501 12044015 FADD Fas associated via death domain gene DOID:1240 leukemia ISO RGD:1345195 D RGD:9068941 20200609 RGD DNA:SNP: :rs7939734 (human) PMID:22244917|REF_RGD_ID:11341800 12044015 FADD Fas associated via death domain gene DOID:14221 abdominal obesity-metabolic syndrome 1 treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:27131981|REF_RGD_ID:13792503 12044015 FADD Fas associated via death domain gene DOID:1596 depressive disorder treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:30138765|REF_RGD_ID:13792497 12044015 FADD Fas associated via death domain gene DOID:224 transient cerebral ischemia ISO RGD:628700 D RGD:9068941 20220527 RGD mRNA,protein:increased expression:cerebral cortex: PMID:18096138|REF_RGD_ID:4142863 12044015 FADD Fas associated via death domain gene DOID:2560 morphine dependence severity ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:21088039|REF_RGD_ID:11341805 12044015 FADD Fas associated via death domain gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:23378241|REF_RGD_ID:11344885 12044015 FADD Fas associated via death domain gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:732106 D RGD:9068941 20200609 RGD PMID:18950622|REF_RGD_ID:11341807 12044015 FADD Fas associated via death domain gene DOID:630 genetic disease ISO RGD:1345195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044015 FADD Fas associated via death domain gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:23574812|REF_RGD_ID:11344882 12044015 FADD Fas associated via death domain gene DOID:9000288 Chronic Intermittent Hypoxia treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:26769958|REF_RGD_ID:13792505 12044015 FADD Fas associated via death domain gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16450001 12044015 FADD Fas associated via death domain gene DOID:9001349 Stomatognathic Diseases ISO RGD:1345195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17656375 12044015 FADD Fas associated via death domain gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:23423194|REF_RGD_ID:8661760 12044015 FADD Fas associated via death domain gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:29635023|REF_RGD_ID:13782292 12044015 FADD Fas associated via death domain gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1345195 D RGD:7240710 20180130 OMIM 12044015 FADD Fas associated via death domain gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1345195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FADD DEFICIENCY | ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:21109225|PMID:25326637|PMID:25794656|PMID:28492532|PMID:32350755 12044015 FADD Fas associated via death domain gene DOID:9004610 Acute Lung Injury treatment ISO RGD:628700 D RGD:9068941 20200609 RGD associated with Shock, Hemorrhagic PMID:24122010|REF_RGD_ID:11341811 12044015 FADD Fas associated via death domain gene DOID:9004786 Carbon Tetrachloride Poisoning treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:25687490|REF_RGD_ID:11341810 12044015 FADD Fas associated via death domain gene DOID:9006646 Metabolic Syndrome ISO RGD:628700 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle PMID:23657904|REF_RGD_ID:11344884 12044015 FADD Fas associated via death domain gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:25447754|PMID:26062544|REF_RGD_ID:10053709|REF_RGD_ID:11341803 12044015 FADD Fas associated via death domain gene DOID:9007480 Hyperoxia ISO RGD:628700 D RGD:9068941 20200609 RGD protein:increased expression:thalamus PMID:19107989|REF_RGD_ID:8662854 12044015 FADD Fas associated via death domain gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:732106 D RGD:9068941 20200609 RGD PMID:26038570|REF_RGD_ID:11341801 12044015 FADD Fas associated via death domain gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:26948086|REF_RGD_ID:13792504 12044015 FADD Fas associated via death domain gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1345195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12044015 FADD Fas associated via death domain gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1345195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17656375 12044015 FADD Fas associated via death domain gene DOID:9009219 Diabetic Embryopathy ISO RGD:732106 D RGD:9068941 20200609 RGD PMID:26419589|REF_RGD_ID:13792560 12044015 FADD Fas associated via death domain gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1345195 D RGD:9068941 20200609 RGD PMID:15520222|REF_RGD_ID:11341799 12044015 FADD Fas associated via death domain gene DOID:9970 obesity ISO RGD:628700 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle PMID:18202171|REF_RGD_ID:2293027 12044020 TWF1 twinfilin actin binding protein 1 gene DOID:0060058 lymphoma ISO RGD:1323555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19783987 12044020 TWF1 twinfilin actin binding protein 1 gene DOID:630 genetic disease ISO RGD:1323555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044041 ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 gene DOID:0050475 Weill-Marchesani syndrome ISO RGD:1314467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome PMID:19836009|PMID:25741868|PMID:28492532 12044041 ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 gene DOID:0050475 Weill-Marchesani syndrome susceptibility ISO RGD:1557306 D RGD:9068941 20230413 RGD DNA:SNP:cd: p.G661R (mouse) PMID:34424262|REF_RGD_ID:243065144 12044041 ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 gene DOID:0080490 mucolipidosis type IV ISO RGD:1314467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 12044041 ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 gene DOID:1070 primary open angle glaucoma ISO RGD:12096613 D RGD:9068941 20230309 OMIA Glaucoma, primary open angle, ADAMTS10-related PMID:1428571|PMID:18435660|PMID:21379321|PMID:22524196|PMID:23422823|PMID:23518772|PMID:25372548|PMID:26277300|PMID:26456751|PMID:27212875|PMID:27271467|PMID:27681326|PMID:36855027|PMID:7212410|PMID:7325430|PMID:7720807|PMID:924743 12044041 ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 gene DOID:12849 autistic disorder ISO RGD:1314467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12044041 ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 gene DOID:1891 optic nerve disease ISO RGD:1557306 D RGD:9068941 20230413 RGD DNA:SNP:cd: p.G661R (mouse) PMID:36216203|REF_RGD_ID:243065145 12044041 ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 gene DOID:630 genetic disease ISO RGD:1314467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 12044041 ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 gene DOID:9002998 Weill-Marchesani Syndrome 1 ISO RGD:1314467 D RGD:7240710 20200101 OMIM 12044041 ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 gene DOID:9002998 Weill-Marchesani Syndrome 1 ISO RGD:1314467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 1 PMID:15368195|PMID:18567016|PMID:19836009|PMID:25741868|PMID:28492532 12044085 QARS1 glutaminyl-tRNA synthetase 1 gene DOID:1059 intellectual disability ISO RGD:1346181 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:28492532 12044085 QARS1 glutaminyl-tRNA synthetase 1 gene DOID:10907 microcephaly ISO RGD:1346181 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:30755392|PMID:31618474 12044085 QARS1 glutaminyl-tRNA synthetase 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1346181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:28332277 12044085 QARS1 glutaminyl-tRNA synthetase 1 gene DOID:11446 sciatic neuropathy ISO RGD:1359448 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:dorsal root ganglion: PMID:25467976|REF_RGD_ID:12910554 12044085 QARS1 glutaminyl-tRNA synthetase 1 gene DOID:1826 epilepsy ISO RGD:1346181 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:30755392|PMID:31618474 12044085 QARS1 glutaminyl-tRNA synthetase 1 gene DOID:540 strabismus ISO RGD:1346181 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Strabismus PMID:25741868|PMID:28492532|PMID:30755392|PMID:31618474 12044085 QARS1 glutaminyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1346181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:24656866|PMID:25471517|PMID:25741868|PMID:28492532|PMID:32042906|PMID:9536098 12044085 QARS1 glutaminyl-tRNA synthetase 1 gene DOID:9000660 Choristoma ISO RGD:1346181 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ectopic tissue PMID:25741868|PMID:28492532|PMID:30755392|PMID:31618474 12044085 QARS1 glutaminyl-tRNA synthetase 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1346181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12044085 QARS1 glutaminyl-tRNA synthetase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1550740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12044085 QARS1 glutaminyl-tRNA synthetase 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1346181 D RGD:7240710 20180130 OMIM 12044085 QARS1 glutaminyl-tRNA synthetase 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1346181 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:16199547|PMID:17576681|PMID:24656866|PMID:25432320|PMID:25471517|PMID:25741868|PMID:26467025|PMID:26869582|PMID:28492532|PMID:29875423|PMID:30755392|PMID:31618474|PMID:32042906|PMID:9536098 12044085 QARS1 glutaminyl-tRNA synthetase 1 gene DOID:9004576 Sleep Initiation and Maintenance Disorders ISO RGD:1346181 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Insomnia PMID:25741868|PMID:28492532|PMID:30755392|PMID:31618474 12044085 QARS1 glutaminyl-tRNA synthetase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1346181 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 12044116 PSMD3 proteasome 26S subunit, non-ATPase 3 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1322945 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 12044116 PSMD3 proteasome 26S subunit, non-ATPase 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1322945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12044116 PSMD3 proteasome 26S subunit, non-ATPase 3 gene DOID:630 genetic disease ISO RGD:1322945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044137 PDIA4 protein disulfide isomerase family A member 4 gene DOID:630 genetic disease ISO RGD:1605716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044158 GNRH2P gonadotropin releasing hormone 2 pseudogene gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1347634 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12044158 GNRH2P gonadotropin releasing hormone 2 pseudogene gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1347634 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12044158 GNRH2P gonadotropin releasing hormone 2 pseudogene gene DOID:630 genetic disease ISO RGD:1347634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044166 CDR2L cerebellar degeneration related protein 2 like gene DOID:630 genetic disease ISO RGD:1602123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044177 C1QTNF1 C1q and TNF related 1 gene DOID:630 genetic disease ISO RGD:1350694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044177 C1QTNF1 C1q and TNF related 1 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1350694 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 12044194 FAM174B family with sequence similarity 174 member B gene DOID:630 genetic disease ISO RGD:1606862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044201 LOC100974017 olfactory receptor 5K4 gene DOID:4990 essential tremor ISO RGD:1342893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 12044201 LOC100974017 olfactory receptor 5K4 gene DOID:630 genetic disease ISO RGD:1342893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044204 CBS cystathionine beta-synthase gene DOID:0050731 vitamin B12 deficiency ISO RGD:2287 D RGD:9068941 20210108 RGD protein:decreased expression:liver (rat) PMID:2732804|REF_RGD_ID:40903037 12044204 CBS cystathionine beta-synthase gene DOID:0060041 autism spectrum disorder ISO RGD:737316 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12044204 CBS cystathionine beta-synthase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:737316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17119116 12044204 CBS cystathionine beta-synthase gene DOID:0080074 neural tube defect ISO RGD:737316 D RGD:9068941 20200609 RGD DNA:polymorphism:677C > T PMID:12649066|REF_RGD_ID:1600627 12044204 CBS cystathionine beta-synthase gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:737316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12044204 CBS cystathionine beta-synthase gene DOID:0110266 cataract 9 multiple types ISO RGD:737316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12044204 CBS cystathionine beta-synthase gene DOID:1059 intellectual disability ISO RGD:737316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10328723|PMID:10338090|PMID:10364517|PMID:10780316|PMID:10807759|PMID:11230183|PMID:11359213|PMID:11434706|PMID:11748855|PMID:12552044|PMID:1301198|PMID:14722927|PMID:15146473|PMID:15192637|PMID:16375773|PMID:17072863|PMID:17540596|PMID:18201569|PMID:18805305|PMID:19819175|PMID:20506325|PMID:2056790|PMID:20567906|PMID:21520339|PMID:22069143|PMID:22267502|PMID:23592311|PMID:24033266|PMID:25516723|PMID:25741868|PMID:26750749|PMID:28492532|PMID:28583326|PMID:33057012|PMID:33223529|PMID:6711564|PMID:7506602|PMID:7611293|PMID:7635485|PMID:7762555|PMID:8528202|PMID:8554066|PMID:8803779|PMID:8940271|PMID:9156316|PMID:9708897|PMID:9790750|PMID:9864922 12044204 CBS cystathionine beta-synthase gene DOID:10763 hypertension ISO RGD:737316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18224302 12044204 CBS cystathionine beta-synthase gene DOID:12365 malaria susceptibility ISO RGD:737316 D RGD:9068941 20210108 RGD DNA:insertion:cds: (844ins68) (human) PMID:27198213|REF_RGD_ID:40903062 12044204 CBS cystathionine beta-synthase gene DOID:1287 cardiovascular system disease ISO RGD:737316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16791140 12044204 CBS cystathionine beta-synthase gene DOID:14004 thoracic aortic aneurysm ISO RGD:737316 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10215408|PMID:10328723|PMID:10338090|PMID:10364517|PMID:10408774|PMID:10531322|PMID:10780316|PMID:10807759|PMID:11230183|PMID:11343305|PMID:11359213|PMID:11434706|PMID:11524006|PMID:11553052|PMID:11748855|PMID:12007221|PMID:12124992|PMID:12269827|PMID:12552044|PMID:12686134|PMID:12815602|PMID:1301198|PMID:14635102|PMID:14722619|PMID:14722927|PMID:14739681|PMID:14972327|PMID:15087459|PMID:15146473|PMID:15192637|PMID:15365998|PMID:15494741|PMID:16205833|PMID:16245937|PMID:16307898|PMID:16375773|PMID:16429402|PMID:16479318|PMID:16619244|PMID:17069888|PMID:17072863|PMID:17319270|PMID:17327360|PMID:17352495|PMID:17540596|PMID:17576681|PMID:18201569|PMID:18280597|PMID:18454451|PMID:18708589|PMID:18805305|PMID:18950795|PMID:19232736|PMID:19370759|PMID:19819175|PMID:19914636|PMID:20031640|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:20694756|PMID:21030686|PMID:21062078|PMID:21240075|PMID:21308989|PMID:21517828|PMID:21520339|PMID:21626167|PMID:21957013|PMID:22069143|PMID:22140583|PMID:22267502|PMID:22333527|PMID:22612060|PMID:22738154|PMID:22891245|PMID:22985361|PMID:23592311|PMID:23733603|PMID:23934999|PMID:23974653|PMID:24033266|PMID:24211323|PMID:25044645|PMID:25087612|PMID:25197074|PMID:25218699|PMID:25331909|PMID:25516723|PMID:25741868|PMID:26464485|PMID:26750749|PMID:27243974|PMID:27604992|PMID:27861796|PMID:27959664|PMID:28097321|PMID:28152038|PMID:28303347|PMID:28421128|PMID:28488385|PMID:28492532|PMID:28550590|PMID:28583326|PMID:29158550|PMID:29205322|PMID:29352562|PMID:29590070|PMID:29650765|PMID:30019023|PMID:30050925|PMID:30165906|PMID:30202406|PMID:30556376|PMID:30873612|PMID:31139930|PMID:31211624|PMID:31301157|PMID:31664448|PMID:32000841|PMID:32232970|PMID:32245022|PMID:33223529|PMID:33985475|PMID:34426522|PMID:6711564|PMID:7506602|PMID:7564249|PMID:7581402|PMID:7611293|PMID:7635485|PMID:7762555|PMID:7967489|PMID:7981678|PMID:8353501|PMID:8528202|PMID:8554066|PMID:8744616|PMID:8755636|PMID:8803779|PMID:8940271|PMID:9361025|PMID:9536098|PMID:9587029|PMID:9675031|PMID:9708897|PMID:9790750|PMID:9864922|PMID:9889017 12044204 CBS cystathionine beta-synthase gene DOID:14004 thoracic aortic aneurysm ISO RGD:737316 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10215408|PMID:10328723|PMID:10338090|PMID:10364517|PMID:10408774|PMID:10531322|PMID:10780316|PMID:10807759|PMID:11230183|PMID:11343305|PMID:11359213|PMID:11434706|PMID:11524006|PMID:11553052|PMID:11748855|PMID:12007221|PMID:12124992|PMID:12269827|PMID:12552044|PMID:12686134|PMID:12815602|PMID:1301198|PMID:14635102|PMID:14722619|PMID:14722927|PMID:14739681|PMID:14972327|PMID:15087459|PMID:15146473|PMID:15192637|PMID:15365998|PMID:15494741|PMID:16205833|PMID:16245937|PMID:16307898|PMID:16375773|PMID:16429402|PMID:16479318|PMID:16619244|PMID:17069888|PMID:17072863|PMID:17319270|PMID:17327360|PMID:17352495|PMID:17540596|PMID:17576681|PMID:18201569|PMID:18280597|PMID:18454451|PMID:18708589|PMID:18805305|PMID:18950795|PMID:19232736|PMID:19370759|PMID:19819175|PMID:19914636|PMID:20031640|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:20694756|PMID:21030686|PMID:21062078|PMID:21240075|PMID:21308989|PMID:21517828|PMID:21520339|PMID:21626167|PMID:21957013|PMID:22069143|PMID:22140583|PMID:22267502|PMID:22333527|PMID:22612060|PMID:22738154|PMID:22891245|PMID:22985361|PMID:23592311|PMID:23733603|PMID:23934999|PMID:23974653|PMID:24033266|PMID:24211323|PMID:25044645|PMID:25087612|PMID:25197074|PMID:25218699|PMID:25331909|PMID:25516723|PMID:25741868|PMID:26464485|PMID:26750749|PMID:27243974|PMID:27604992|PMID:27861796|PMID:27959664|PMID:28097321|PMID:28152038|PMID:28303347|PMID:28421128|PMID:28488385|PMID:28492532|PMID:28550590|PMID:28583326|PMID:29158550|PMID:29205322|PMID:29352562|PMID:29590070|PMID:29650765|PMID:30019023|PMID:30050925|PMID:30165906|PMID:30202406|PMID:30380942|PMID:30556376|PMID:30873612|PMID:31139930|PMID:31211624|PMID:31301157|PMID:31664448|PMID:32000841|PMID:32232970|PMID:32245022|PMID:33223529|PMID:33985475|PMID:34426522|PMID:6711564|PMID:7506602|PMID:7564249|PMID:7581402|PMID:7611293|PMID:7635485|PMID:7762555|PMID:7967489|PMID:7981678|PMID:8353501|PMID:8528202|PMID:8554066|PMID:8744616|PMID:8755636|PMID:8803779|PMID:8940271|PMID:9361025|PMID:9536098|PMID:9587029|PMID:9675031|PMID:9708897|PMID:9790750|PMID:9864922|PMID:9889017 12044204 CBS cystathionine beta-synthase gene DOID:1909 melanoma ISO RGD:737316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25205294 12044204 CBS cystathionine beta-synthase gene DOID:224 transient cerebral ischemia ISO RGD:10297 D RGD:9068941 20210219 RGD XCO:0000348 PMID:22212488|REF_RGD_ID:41410880 12044204 CBS cystathionine beta-synthase gene DOID:224 transient cerebral ischemia treatment ISO RGD:10297 D RGD:9068941 20210219 RGD XCO:0000807 PMID:22212488|REF_RGD_ID:41410880 12044204 CBS cystathionine beta-synthase gene DOID:3393 coronary artery disease ISO RGD:737316 D RGD:9068941 20200609 RGD CBS variant c.844ins68 PMID:12855221|REF_RGD_ID:1600626 12044204 CBS cystathionine beta-synthase gene DOID:399 tuberculosis ISO RGD:10297 D RGD:9068941 20210108 RGD protein:increased expression:macrophages (mouse) PMID:31992699|REF_RGD_ID:40903052 12044204 CBS cystathionine beta-synthase gene DOID:399 tuberculosis severity ISO RGD:10297 D RGD:9068941 20210108 RGD PMID:31992699|REF_RGD_ID:40903052 12044204 CBS cystathionine beta-synthase gene DOID:630 genetic disease ISO RGD:737316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10338090|PMID:10363126|PMID:11204591|PMID:12124992|PMID:12815602|PMID:15365998|PMID:15993874|PMID:16205833|PMID:16429402|PMID:16470595|PMID:16479318|PMID:19906435|PMID:20506325|PMID:20601281|PMID:21240075|PMID:21520339|PMID:22002135|PMID:22069143|PMID:22267502|PMID:24033266|PMID:24138954|PMID:25218699|PMID:25336647|PMID:25741868|PMID:27681349|PMID:28492532|PMID:29352562|PMID:31301157|PMID:32232970|PMID:32245022|PMID:32769498|PMID:33335839|PMID:35281663|PMID:7762555|PMID:8940271|PMID:8940285|PMID:9361025|PMID:9813456 12044204 CBS cystathionine beta-synthase gene DOID:65 connective tissue disease ISO RGD:737316 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:10328723|PMID:10338090|PMID:10364517|PMID:10780316|PMID:10807759|PMID:11230183|PMID:11359213|PMID:11434706|PMID:11748855|PMID:12124992|PMID:12552044|PMID:12686134|PMID:1301198|PMID:14635102|PMID:14722927|PMID:15146473|PMID:15192637|PMID:15494741|PMID:16375773|PMID:17072863|PMID:17540596|PMID:18201569|PMID:18708589|PMID:18805305|PMID:18950795|PMID:19819175|PMID:20506325|PMID:2056790|PMID:20567906|PMID:21062078|PMID:21520339|PMID:21626167|PMID:21957013|PMID:22069143|PMID:22267502|PMID:22612060|PMID:23592311|PMID:24033266|PMID:25331909|PMID:25516723|PMID:25741868|PMID:26750749|PMID:28152038|PMID:28492532|PMID:28583326|PMID:29205322|PMID:29650765|PMID:30165906|PMID:30380942|PMID:31139930|PMID:31211624|PMID:31301157|PMID:31664448|PMID:32245022|PMID:33223529|PMID:6711564|PMID:7506602|PMID:7611293|PMID:7635485|PMID:7762555|PMID:8554066|PMID:8803779|PMID:8940271|PMID:9361025|PMID:9708897|PMID:9790750|PMID:9864922 12044204 CBS cystathionine beta-synthase gene DOID:891 progressive myoclonus epilepsy ISO RGD:737316 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12044204 CBS cystathionine beta-synthase gene DOID:9003619 Homocystinuria, Pyridoxine-Responsive ISO RGD:737316 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Homocystinuria, pyridoxine-responsive PMID:10215408|PMID:10328723|PMID:10338090|PMID:10364517|PMID:10408774|PMID:10531322|PMID:10780316|PMID:10807759|PMID:11230183|PMID:11343305|PMID:11359213|PMID:11434706|PMID:11748855|PMID:12007221|PMID:12124992|PMID:12269827|PMID:12552044|PMID:12686134|PMID:1301198|PMID:14635102|PMID:14722619|PMID:14722927|PMID:14739681|PMID:14972327|PMID:15087459|PMID:15146473|PMID:15192637|PMID:15365998|PMID:16245937|PMID:16307898|PMID:16375773|PMID:16479318|PMID:16619244|PMID:17069888|PMID:17072863|PMID:17540596|PMID:18201569|PMID:18805305|PMID:19232736|PMID:19819175|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:21520339|PMID:21626167|PMID:22069143|PMID:22267502|PMID:22333527|PMID:22612060|PMID:22738154|PMID:22985361|PMID:23592311|PMID:23974653|PMID:24033266|PMID:24211323|PMID:25044645|PMID:25087612|PMID:25197074|PMID:25218699|PMID:25331909|PMID:25516723|PMID:25741868|PMID:26750749|PMID:27861796|PMID:27959664|PMID:28097321|PMID:28488385|PMID:28492532|PMID:28583326|PMID:29650765|PMID:30050925|PMID:32000841|PMID:32232970|PMID:32245022|PMID:33057012|PMID:33223529|PMID:33985475|PMID:34426522|PMID:6711564|PMID:7506602|PMID:7611293|PMID:7635485|PMID:7762555|PMID:8353501|PMID:8528202|PMID:8554066|PMID:8755636|PMID:8803779|PMID:8940271|PMID:8990018|PMID:9361025|PMID:9587029|PMID:9708897|PMID:9790750|PMID:9864922 12044204 CBS cystathionine beta-synthase gene DOID:9004484 Sepsis susceptibility ISO RGD:737316 D RGD:9068941 20210108 RGD DNA:SNP:intron (rs6586282, rs34758144) (human) PMID:26508567|REF_RGD_ID:40903018 12044204 CBS cystathionine beta-synthase gene DOID:9005695 Malnutrition ISO RGD:737316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16709328 12044204 CBS cystathionine beta-synthase gene DOID:9005729 Chronic Experimental Pancreatitis ISO RGD:2287 D RGD:9068941 20210108 RGD protein:increased expression:arcuate nucleus (rat) PMID:27778022|REF_RGD_ID:38456012 12044204 CBS cystathionine beta-synthase gene DOID:9005930 Endotoxemia ISO RGD:10297 D RGD:9068941 20210108 RGD PMID:27748832|REF_RGD_ID:40903019 12044204 CBS cystathionine beta-synthase gene DOID:9005930 Endotoxemia ISO RGD:2287 D RGD:9068941 20210108 RGD mRNA:increased expression:liver (rat) PMID:16100527|REF_RGD_ID:40903049 12044204 CBS cystathionine beta-synthase gene DOID:9005930 Endotoxemia severity ISO RGD:10297 D RGD:9068941 20210108 RGD PMID:24702258|REF_RGD_ID:40903035 12044204 CBS cystathionine beta-synthase gene DOID:9005930 Endotoxemia severity ISO RGD:10297 D RGD:9068941 20210108 RGD Protein:increased expression:spleen, lung (mouse) PMID:27748832|REF_RGD_ID:40903019 12044204 CBS cystathionine beta-synthase gene DOID:9263 homocystinuria ISO RGD:737316 D RGD:7240710 20180130 OMIM 12044204 CBS cystathionine beta-synthase gene DOID:9263 homocystinuria ISO RGD:737316 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CBS deficiency | ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency | ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | ClinVar Annotator: match by term: Homocystinuria | ClinVar Annotator: match by term: Homocystinuria, pyridoxine-nonresponsive PMID:10215408|PMID:10328723|PMID:10338090|PMID:10363126|PMID:10364517|PMID:10408774|PMID:10462600|PMID:10531322|PMID:10687314|PMID:10780316|PMID:10807759|PMID:11204591|PMID:11230183|PMID:11343305|PMID:11359213|PMID:11434706|PMID:11522031|PMID:11524006|PMID:11553052|PMID:11748855|PMID:11774777|PMID:11926827|PMID:12007221|PMID:12124992|PMID:12269827|PMID:12379655|PMID:12552044|PMID:12686134|PMID:12815602|PMID:12828591|PMID:1301198|PMID:14635102|PMID:14722619|PMID:14722927|PMID:14739681|PMID:14972327|PMID:15087459|PMID:15146473|PMID:15192637|PMID:15365998|PMID:15494741|PMID:15993874|PMID:16167124|PMID:16199547|PMID:16205833|PMID:16245937|PMID:16307898|PMID:16375773|PMID:16429402|PMID:16470595|PMID:16479318|PMID:16619244|PMID:16786517|PMID:17056636|PMID:17069888|PMID:17072863|PMID:17319270|PMID:17327360|PMID:17352495|PMID:17540596|PMID:17576681|PMID:17601930|PMID:18194900|PMID:18201569|PMID:18280597|PMID:18423051|PMID:18454451|PMID:18708589|PMID:18805305|PMID:18950795|PMID:19232736|PMID:19370759|PMID:19429038|PMID:19819175|PMID:19906435|PMID:19914636|PMID:20031640|PMID:20066033|PMID:20308073|PMID:20455263|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:20601281|PMID:20694756|PMID:20821054|PMID:20871414|PMID:21030686|PMID:21062078|PMID:21240075|PMID:21308989|PMID:21517828|PMID:2152033|PMID:21520339|PMID:21626167|PMID:21957013|PMID:22002135|PMID:22069143|PMID:22140583|PMID:22267502|PMID:22333527|PMID:22353391|PMID:22382802|PMID:22612060|PMID:22738154|PMID:22891245|PMID:22977242|PMID:22985361|PMID:23592311|PMID:23733603|PMID:23812867|PMID:23934999|PMID:23974653|PMID:23981774|PMID:24033266|PMID:24138954|PMID:24211323|PMID:24613005|PMID:24990611|PMID:25044645|PMID:25087612|PMID:25197074|PMID:25218699|PMID:25331909|PMID:25336647|PMID:25455305|PMID:25516723|PMID:25640679|PMID:25741868|PMID:25939784|PMID:26464485|PMID:26667307|PMID:26750749|PMID:27243974|PMID:27604992|PMID:27681349|PMID:27861796|PMID:27959664|PMID:28097321|PMID:28152038|PMID:28303347|PMID:28421128|PMID:28488385|PMID:28492532|PMID:28550590|PMID:28583326|PMID:28980096|PMID:29158550|PMID:29205322|PMID:29326875|PMID:29352562|PMID:29508359|PMID:29590070|PMID:29600437|PMID:29650765|PMID:30019023|PMID:30050925|PMID:30165906|PMID:30202406|PMID:30246729|PMID:30380942|PMID:30556376|PMID:30732165|PMID:30873612|PMID:31139930|PMID:31211624|PMID:31240737|PMID:31279624|PMID:31301157|PMID:31664448|PMID:32000841|PMID:32232970|PMID:32245022|PMID:32768567|PMID:32769498|PMID:33057012|PMID:33223529|PMID:33335839|PMID:33985475|PMID:34426522|PMID:34449519|PMID:34449521|PMID:34818515|PMID:34842599|PMID:35281663|PMID:6711564|PMID:7506602|PMID:7564249|PMID:7581402|PMID:7611293|PMID:7635485|PMID:7762555|PMID:7849717|PMID:7967489|PMID:7981678|PMID:8353501|PMID:8528202|PMID:8554066|PMID:8744616|PMID:8755636|PMID:8803779|PMID:8940271|PMID:8940285|PMID:8990018|PMID:9156316|PMID:9232191|PMID:9266356|PMID:9361025|PMID:9536098|PMID:9587029|PMID:9590298|PMID:9675031|PMID:9708897|PMID:9790750|PMID:9813456|PMID:9864922|PMID:9870207|PMID:9889017 12044204 CBS cystathionine beta-synthase gene DOID:9279 hyperhomocysteinemia ISO RGD:737316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperhomocysteinemia PMID:12686134|PMID:16205833|PMID:16479318|PMID:21517828|PMID:22267502|PMID:22977242|PMID:25741868|PMID:28492532|PMID:7762555 12044204 CBS cystathionine beta-synthase gene DOID:9279 hyperhomocysteinemia susceptibility ISO RGD:737316 D RGD:9068941 20210108 RGD associated with coronary artery disease; DNA:insertion:cds: (844ins68) (human) PMID:10704624|REF_RGD_ID:40903036 12044204 CBS cystathionine beta-synthase gene DOID:9352 type 2 diabetes mellitus ISO RGD:737316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23665415 12044204 CBS cystathionine beta-synthase gene DOID:9562 primary ciliary dyskinesia ISO RGD:737316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12044204 CBS cystathionine beta-synthase gene DOID:9778 irritable bowel syndrome severity ISO RGD:10297 D RGD:9068941 20210108 RGD PMID:27472293|REF_RGD_ID:40903054 12044263 PRC1 protein regulator of cytokinesis 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1323372 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12044263 PRC1 protein regulator of cytokinesis 1 gene DOID:2717 Bloom syndrome ISO RGD:1323372 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12044263 PRC1 protein regulator of cytokinesis 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1323372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 12044263 PRC1 protein regulator of cytokinesis 1 gene DOID:3459 breast carcinoma ISO RGD:1323372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast carcinoma 12044263 PRC1 protein regulator of cytokinesis 1 gene DOID:630 genetic disease ISO RGD:1323372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044263 PRC1 protein regulator of cytokinesis 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1323372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12044263 PRC1 protein regulator of cytokinesis 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1323372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043753 12044263 PRC1 protein regulator of cytokinesis 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1323372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25038754 12044263 PRC1 protein regulator of cytokinesis 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1323372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 12044310 TEX19 testis expressed 19 gene DOID:630 genetic disease ISO RGD:1603143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044316 TKTL1 transketolase like 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1351621 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12044316 TKTL1 transketolase like 1 gene DOID:0050476 Barth syndrome ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12044316 TKTL1 transketolase like 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 12044316 TKTL1 transketolase like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12044316 TKTL1 transketolase like 1 gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 12044316 TKTL1 transketolase like 1 gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 12044316 TKTL1 transketolase like 1 gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 12044316 TKTL1 transketolase like 1 gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 12044316 TKTL1 transketolase like 1 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 12044316 TKTL1 transketolase like 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1351621 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12044316 TKTL1 transketolase like 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12044316 TKTL1 transketolase like 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12044316 TKTL1 transketolase like 1 gene DOID:12849 autistic disorder ISO RGD:1351621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12044316 TKTL1 transketolase like 1 gene DOID:13628 favism ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12044316 TKTL1 transketolase like 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1351621 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12044316 TKTL1 transketolase like 1 gene DOID:607 paraplegia ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12044316 TKTL1 transketolase like 1 gene DOID:630 genetic disease ISO RGD:1351621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044316 TKTL1 transketolase like 1 gene DOID:9002720 Splenomegaly ISO RGD:1351621 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12044316 TKTL1 transketolase like 1 gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:15689435|PMID:16080119|PMID:28492532 12044316 TKTL1 transketolase like 1 gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 12044322 VAC14 VAC14 component of PIKFYVE complex gene DOID:0060589 Yunis-Varon syndrome ISO RGD:1347283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Yunis-Varon syndrome PMID:28492532|PMID:28635952 12044322 VAC14 VAC14 component of PIKFYVE complex gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1347283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12044322 VAC14 VAC14 component of PIKFYVE complex gene DOID:1289 neurodegenerative disease ISO RGD:1347283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder 12044322 VAC14 VAC14 component of PIKFYVE complex gene DOID:2661 myoepithelioma ISO RGD:1347283 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12044322 VAC14 VAC14 component of PIKFYVE complex gene DOID:630 genetic disease ISO RGD:1347283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:27292112|PMID:28492532|PMID:9536098 12044322 VAC14 VAC14 component of PIKFYVE complex gene DOID:9000686 Striatonigral Degeneration, Childhood-Onset ISO RGD:1347283 D RGD:7240710 20190315 OMIM 12044322 VAC14 VAC14 component of PIKFYVE complex gene DOID:9000686 Striatonigral Degeneration, Childhood-Onset ISO RGD:1347283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Striatonigral degeneration, childhood-onset PMID:25741868|PMID:27292112|PMID:28492532 12044347 ONECUT2 one cut homeobox 2 gene DOID:0050770 polycystic liver disease ISO RGD:1354460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 12044347 ONECUT2 one cut homeobox 2 gene DOID:630 genetic disease ISO RGD:1354460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044347 ONECUT2 one cut homeobox 2 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1354460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease 12044347 ONECUT2 one cut homeobox 2 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1354460 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 12044347 ONECUT2 one cut homeobox 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29581250 12044353 SETDB2 SET domain bifurcated histone lysine methyltransferase 2 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1321179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12044353 SETDB2 SET domain bifurcated histone lysine methyltransferase 2 gene DOID:1059 intellectual disability ISO RGD:1321179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12044353 SETDB2 SET domain bifurcated histone lysine methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1321179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044383 GTPBP3 GTP binding protein 3, mitochondrial gene DOID:0111500 combined oxidative phosphorylation deficiency 23 ISO RGD:1313350 D RGD:7240710 20180130 OMIM 12044383 GTPBP3 GTP binding protein 3, mitochondrial gene DOID:0111500 combined oxidative phosphorylation deficiency 23 ISO RGD:1313350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 23 PMID:16199547|PMID:25434004|PMID:25741868|PMID:28492532|PMID:33619562 12044383 GTPBP3 GTP binding protein 3, mitochondrial gene DOID:1059 intellectual disability ISO RGD:1313350 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25434004|PMID:28492532 12044383 GTPBP3 GTP binding protein 3, mitochondrial gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1313350 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25434004|PMID:25741868|PMID:30426380|PMID:34276756|PMID:35413567 12044383 GTPBP3 GTP binding protein 3, mitochondrial gene DOID:630 genetic disease ISO RGD:1313350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30426380 12044383 GTPBP3 GTP binding protein 3, mitochondrial gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1313350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PIGG-related neurodevelopmental disorder PMID:25741868|PMID:28492532 12044383 GTPBP3 GTP binding protein 3, mitochondrial gene DOID:9008086 Developmental Disabilities ISO RGD:1313350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12044412 NACC1 nucleus accumbens associated 1 gene DOID:0050858 Marshall-Smith syndrome ISO RGD:732621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marshall-Smith syndrome PMID:20673863|PMID:23495138|PMID:25118028|PMID:25736188|PMID:26927468|PMID:27688808|PMID:28492532|PMID:29184170 12044412 NACC1 nucleus accumbens associated 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:732621 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532|PMID:29184170 12044412 NACC1 nucleus accumbens associated 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:732621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12044412 NACC1 nucleus accumbens associated 1 gene DOID:0111254 glutaric acidemia I ISO RGD:732621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12044412 NACC1 nucleus accumbens associated 1 gene DOID:1059 intellectual disability ISO RGD:732621 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:28492532 12044412 NACC1 nucleus accumbens associated 1 gene DOID:10907 microcephaly ISO RGD:732621 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12044412 NACC1 nucleus accumbens associated 1 gene DOID:14566 disease of cellular proliferation ISO RGD:732621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31101655 12044412 NACC1 nucleus accumbens associated 1 gene DOID:3413 alpha-mannosidosis ISO RGD:732621 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12044412 NACC1 nucleus accumbens associated 1 gene DOID:630 genetic disease ISO RGD:732621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28132692|PMID:28492532|PMID:31618753 12044412 NACC1 nucleus accumbens associated 1 gene DOID:9004290 Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination ISO RGD:732621 D RGD:7240710 20190315 OMIM 12044412 NACC1 nucleus accumbens associated 1 gene DOID:9004290 Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination ISO RGD:732621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination PMID:25741868|PMID:28132692|PMID:28492532 12044423 SCRN3 secernin 3 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1312871 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12044423 SCRN3 secernin 3 gene DOID:630 genetic disease ISO RGD:1312871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044448 PYROXD2 pyridine nucleotide-disulphide oxidoreductase domain 2 gene DOID:630 genetic disease ISO RGD:1353326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044481 CDC25C cell division cycle 25C gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1323559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12044481 CDC25C cell division cycle 25C gene DOID:0080365 endometrial hyperplasia ISO RGD:1323559 D RGD:9068941 20200609 RGD PMID:12931023|REF_RGD_ID:4105452 12044481 CDC25C cell division cycle 25C gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1323559 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12044481 CDC25C cell division cycle 25C gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1323559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 12044481 CDC25C cell division cycle 25C gene DOID:10283 prostate cancer ISO RGD:1323559 D RGD:9068941 20200609 RGD PMID:12896904|PMID:16140946|PMID:17460776|REF_RGD_ID:2756028|REF_RGD_ID:2774210|REF_RGD_ID:4105453 12044481 CDC25C cell division cycle 25C gene DOID:10283 prostate cancer ISO RGD:1323559 D RGD:9068941 20200609 RGD mRNA, protein:alternative form, increased expression, increased activity:prostate gland PMID:16000564|REF_RGD_ID:2776427 12044481 CDC25C cell division cycle 25C gene DOID:1380 endometrial cancer ISO RGD:1323559 D RGD:9068941 20200609 RGD DNA:mutation (human) PMID:12124347|REF_RGD_ID:4105455 12044481 CDC25C cell division cycle 25C gene DOID:1612 breast cancer ISO RGD:1323559 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:15567944|REF_RGD_ID:4105448 12044481 CDC25C cell division cycle 25C gene DOID:2101 vulva squamous cell carcinoma disease_progression ISO RGD:1323559 D RGD:9068941 20200609 RGD protein:increased expression:vulva PMID:20500813|REF_RGD_ID:2729590 12044481 CDC25C cell division cycle 25C gene DOID:4362 cervical cancer ISO RGD:1323559 D RGD:9068941 20200609 RGD PMID:15289842|REF_RGD_ID:4105450 12044481 CDC25C cell division cycle 25C gene DOID:630 genetic disease ISO RGD:1323559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044481 CDC25C cell division cycle 25C gene DOID:684 hepatocellular carcinoma ISO RGD:1323559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12044481 CDC25C cell division cycle 25C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12044481 CDC25C cell division cycle 25C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12044481 CDC25C cell division cycle 25C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323559 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12044503 PHRF1 PHD and ring finger domains 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12044503 PHRF1 PHD and ring finger domains 1 gene DOID:0050729 neutral lipid storage disease ISO RGD:1605972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 12044503 PHRF1 PHD and ring finger domains 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1605972 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12044503 PHRF1 PHD and ring finger domains 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:1605972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12044503 PHRF1 PHD and ring finger domains 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12044503 PHRF1 PHD and ring finger domains 1 gene DOID:10487 Hirschsprung's disease ISO RGD:1605972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 12044503 PHRF1 PHD and ring finger domains 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1605972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12044503 PHRF1 PHD and ring finger domains 1 gene DOID:630 genetic disease ISO RGD:1605972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044503 PHRF1 PHD and ring finger domains 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1605972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18204446 12044558 WBP2NL WBP2 N-terminal like gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1604730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12044558 WBP2NL WBP2 N-terminal like gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1604730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 12044558 WBP2NL WBP2 N-terminal like gene DOID:0112318 Schindler disease type 1 ISO RGD:1604730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 1 12044558 WBP2NL WBP2 N-terminal like gene DOID:0112319 Kanzaki disease ISO RGD:1604730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 2 12044558 WBP2NL WBP2 N-terminal like gene DOID:1059 intellectual disability ISO RGD:1604730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12044558 WBP2NL WBP2 N-terminal like gene DOID:630 genetic disease ISO RGD:1604730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044573 ZC3H12D zinc finger CCCH-type containing 12D gene DOID:630 genetic disease ISO RGD:1345806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044573 ZC3H12D zinc finger CCCH-type containing 12D gene DOID:684 hepatocellular carcinoma ISO RGD:1345806 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34545456 12044583 FAM169A family with sequence similarity 169 member A gene DOID:0080600 COVID-19 ISO RGD:2300032 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12044583 FAM169A family with sequence similarity 169 member A gene DOID:3323 Sandhoff disease ISO RGD:2300032 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 12044583 FAM169A family with sequence similarity 169 member A gene DOID:630 genetic disease ISO RGD:2300032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044583 FAM169A family with sequence similarity 169 member A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2300032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12044608 PTX4 pentraxin 4 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1605189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12044608 PTX4 pentraxin 4 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605189 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532|PMID:29688594 12044608 PTX4 pentraxin 4 gene DOID:1826 epilepsy ISO RGD:1605189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12044608 PTX4 pentraxin 4 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12044608 PTX4 pentraxin 4 gene DOID:630 genetic disease ISO RGD:1605189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044614 HEATR5A HEAT repeat containing 5A gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1347266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:21681106 12044614 HEATR5A HEAT repeat containing 5A gene DOID:0060892 late onset Parkinson's disease ISO RGD:1347266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:20818383|PMID:22072591|PMID:25741868|PMID:32518176|PMID:33224084 12044614 HEATR5A HEAT repeat containing 5A gene DOID:0112088 nuclear type mitochondrial complex I deficiency 21 ISO RGD:1347266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 PMID:20818383|PMID:22072591|PMID:25741868|PMID:32518176|PMID:33224084 12044614 HEATR5A HEAT repeat containing 5A gene DOID:14330 Parkinson's disease ISO RGD:1347266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson's disease PMID:20818383|PMID:22072591|PMID:25741868|PMID:32518176|PMID:33224084 12044614 HEATR5A HEAT repeat containing 5A gene DOID:630 genetic disease ISO RGD:1347266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044614 HEATR5A HEAT repeat containing 5A gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1347266 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12044660 ARL9 ADP ribosylation factor like GTPase 9 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1606161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:28492532 12044660 ARL9 ADP ribosylation factor like GTPase 9 gene DOID:630 genetic disease ISO RGD:1606161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044676 TMEM39A transmembrane protein 39A gene DOID:630 genetic disease ISO RGD:1353039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044696 LOC100996196 keratin-associated protein 11-1 gene DOID:630 genetic disease ISO RGD:1350814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044714 RPP21 ribonuclease P/MRP subunit p21 gene DOID:11372 megacolon ISO RGD:1346051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12044714 RPP21 ribonuclease P/MRP subunit p21 gene DOID:630 genetic disease ISO RGD:1346051 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044759 WDR88 WD repeat domain 88 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1606735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12044759 WDR88 WD repeat domain 88 gene DOID:630 genetic disease ISO RGD:1606735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044759 WDR88 WD repeat domain 88 gene DOID:9119 acute myeloid leukemia ISO RGD:1606735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:28492532 12044784 LOC103787000 keratin-associated protein 10-3 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1345547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 12044784 LOC103787000 keratin-associated protein 10-3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1345547 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12044784 LOC103787000 keratin-associated protein 10-3 gene DOID:0110266 cataract 9 multiple types ISO RGD:1345547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12044784 LOC103787000 keratin-associated protein 10-3 gene DOID:12849 autistic disorder ISO RGD:1345547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12044784 LOC103787000 keratin-associated protein 10-3 gene DOID:630 genetic disease ISO RGD:1345547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044784 LOC103787000 keratin-associated protein 10-3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1345547 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12044784 LOC103787000 keratin-associated protein 10-3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12044784 LOC103787000 keratin-associated protein 10-3 gene DOID:9263 homocystinuria ISO RGD:1345547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12044784 LOC103787000 keratin-associated protein 10-3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1345547 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12044805 APOBEC4 apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1606067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12044805 APOBEC4 apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4 gene DOID:630 genetic disease ISO RGD:1606067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044805 APOBEC4 apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12044811 ACOT12 acyl-CoA thioesterase 12 gene DOID:3571 liver cancer ISO RGD:619752 D RGD:9068941 20200609 RGD PMID:2566591|REF_RGD_ID:13831129 12044811 ACOT12 acyl-CoA thioesterase 12 gene DOID:630 genetic disease ISO RGD:736721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044811 ACOT12 acyl-CoA thioesterase 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12044833 DDC dopa decarboxylase gene DOID:0050771 pheochromocytoma ISO RGD:734177 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22569243 12044833 DDC dopa decarboxylase gene DOID:0080855 Parkinsonism ISO RGD:734177 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16269145 12044833 DDC dopa decarboxylase gene DOID:0090123 aromatic L-amino acid decarboxylase deficiency ISO RGD:734177 D RGD:7240710 20180130 OMIM 12044833 DDC dopa decarboxylase gene DOID:0090123 aromatic L-amino acid decarboxylase deficiency ISO RGD:734177 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Deficiency of aromatic-L-amino-acid decarboxylase PMID:1357595|PMID:14991824|PMID:15079002|PMID:16199547|PMID:17240182|PMID:17533144|PMID:17576681|PMID:18567514|PMID:20505134|PMID:21541720|PMID:22143761|PMID:23321058|PMID:23430870|PMID:24037885|PMID:24788355|PMID:24865461|PMID:25001633|PMID:25741868|PMID:25956449|PMID:26994895|PMID:27147232|PMID:28492532|PMID:28556607|PMID:28856607|PMID:28924877|PMID:28973165|PMID:29356298|PMID:29851841|PMID:30144970|PMID:30952622|PMID:31104889|PMID:31130284|PMID:31607746|PMID:31703131|PMID:31849064|PMID:31918669|PMID:31953134|PMID:31975548|PMID:32111562|PMID:32369189|PMID:32409695|PMID:33734312|PMID:33808712|PMID:9536098|PMID:9789536 12044833 DDC dopa decarboxylase gene DOID:10762 portal hypertension ISO RGD:2494 D RGD:9068941 20200609 RGD mRNA:decreased expression:superior mesenteric artery (rat) PMID:18457899|REF_RGD_ID:5129683 12044833 DDC dopa decarboxylase gene DOID:1184 nephrotic syndrome ISO RGD:2494 D RGD:9068941 20200609 RGD protein:decreased activity:renal cortex (rat) PMID:16204272|REF_RGD_ID:5129145 12044833 DDC dopa decarboxylase gene DOID:14330 Parkinson's disease ISO RGD:2494 D RGD:9068941 20200609 RGD PMID:12703659|REF_RGD_ID:4139893 12044833 DDC dopa decarboxylase gene DOID:14330 Parkinson's disease ISO RGD:2494 D RGD:9068941 20200609 RGD protein:altered expression:arcuate nucleus ((rat) PMID:15935614|REF_RGD_ID:5129231 12044833 DDC dopa decarboxylase gene DOID:14330 Parkinson's disease ISO RGD:734177 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11445284|PMID:2969953 12044833 DDC dopa decarboxylase gene DOID:14330 Parkinson's disease ISO RGD:734177 D RGD:9068941 20200609 RGD human gene in a rat model PMID:9853519|REF_RGD_ID:5129121 12044833 DDC dopa decarboxylase gene DOID:150 disease of mental health ISO RGD:734177 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2969953 12044833 DDC dopa decarboxylase gene DOID:2018 hyperinsulinism ISO RGD:734177 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic beta cell (human) PMID:16403819|REF_RGD_ID:5129140 12044833 DDC dopa decarboxylase gene DOID:3312 bipolar disorder ISO RGD:734177 D RGD:9068941 20200609 RGD DNA:deletions:5' utr, intron:g.-601delG, g.722_725delGAGA (human) PMID:12555230|REF_RGD_ID:1358586 12044833 DDC dopa decarboxylase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:734177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12044833 DDC dopa decarboxylase gene DOID:630 genetic disease ISO RGD:734177 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15079002|PMID:17576681|PMID:24788355|PMID:28492532|PMID:32111562|PMID:9536098 12044833 DDC dopa decarboxylase gene DOID:655 inherited metabolic disorder ISO RGD:734177 D RGD:9068941 20200609 RGD AADC deficiency, OMIM:608643; DNA:point mutations:cds:multiple (human) PMID:20505134|REF_RGD_ID:5128849 12044833 DDC dopa decarboxylase gene DOID:783 end stage renal disease ISO RGD:2494 D RGD:9068941 20200609 RGD protein:altered activity:renal cortex (rat) PMID:19167406|REF_RGD_ID:5128880 12044833 DDC dopa decarboxylase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2494 D RGD:9068941 20200609 RGD mRNA:decreased expression:superior mesenteric artery (rat) PMID:18457899|REF_RGD_ID:5129683 12044833 DDC dopa decarboxylase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734177 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12044833 DDC dopa decarboxylase gene DOID:9002955 Nerve Degeneration ISO RGD:734177 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19522546 12044833 DDC dopa decarboxylase gene DOID:9008086 Developmental Disabilities ISO RGD:734177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:28492532 12044833 DDC dopa decarboxylase gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:2494 D RGD:9068941 20200609 RGD associated with Parkinson Disease; protein:decreased expression:striatum (rat) PMID:20232137|REF_RGD_ID:5128860 12044867 RAPGEF1 Rap guanine nucleotide exchange factor 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:731405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12044867 RAPGEF1 Rap guanine nucleotide exchange factor 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:731405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12044867 RAPGEF1 Rap guanine nucleotide exchange factor 1 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:619793 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus PMID:18784646|REF_RGD_ID:11534983 12044867 RAPGEF1 Rap guanine nucleotide exchange factor 1 gene DOID:4783 mesangial proliferative glomerulonephritis ISO RGD:619793 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus PMID:20725139|REF_RGD_ID:11534982 12044867 RAPGEF1 Rap guanine nucleotide exchange factor 1 gene DOID:630 genetic disease ISO RGD:731405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044867 RAPGEF1 Rap guanine nucleotide exchange factor 1 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:731405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 12044902 TC2N tandem C2 domains, nuclear gene DOID:0080054 achondrogenesis type IA ISO RGD:1349748 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12044902 TC2N tandem C2 domains, nuclear gene DOID:630 genetic disease ISO RGD:1349748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044920 XBP1 X-box binding protein 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:1332312 D RGD:9068941 20220825 MouseDO 12044920 XBP1 X-box binding protein 1 gene DOID:0050770 polycystic liver disease ISO RGD:1352787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 12044920 XBP1 X-box binding protein 1 gene DOID:0060478 Zika fever ISO RGD:1332312 D RGD:9068941 20200702 RGD protein:increased expression:cerebellum, mesocephalon PMID:30241539|REF_RGD_ID:32733625 12044920 XBP1 X-box binding protein 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1352787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097666 12044920 XBP1 X-box binding protein 1 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1352787 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 12044920 XBP1 X-box binding protein 1 gene DOID:10603 glucose intolerance ISO RGD:1352787 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27325692 12044920 XBP1 X-box binding protein 1 gene DOID:2377 multiple sclerosis ISO RGD:1352787 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30661753 12044920 XBP1 X-box binding protein 1 gene DOID:3070 high grade glioma ISO RGD:1352787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21138464 12044920 XBP1 X-box binding protein 1 gene DOID:5154 borna disease ISO RGD:1303073 D RGD:9068941 20200702 RGD mRNA,protein:altered expression:cerebellum,hippocampus PMID:16912310|REF_RGD_ID:32733622 12044920 XBP1 X-box binding protein 1 gene DOID:630 genetic disease ISO RGD:1352787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12044920 XBP1 X-box binding protein 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1352787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 12044920 XBP1 X-box binding protein 1 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1352787 D RGD:9068941 20200702 RGD mRNA, protein:decreased expression:liver PMID:26234401|REF_RGD_ID:32716425 12044920 XBP1 X-box binding protein 1 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1352787 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 12044920 XBP1 X-box binding protein 1 gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:1303073 D RGD:9068941 20200702 RGD PMID:31836774|REF_RGD_ID:32733624 12044920 XBP1 X-box binding protein 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1352787 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30661753 12044920 XBP1 X-box binding protein 1 gene DOID:9006048 Major Affective Disorder 7 ISO RGD:1352787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Major affective disorder 7 12044920 XBP1 X-box binding protein 1 gene DOID:9006048 Major Affective Disorder 7 susceptibility ISO RGD:1352787 D RGD:7240710 20190502 OMIM 12044920 XBP1 X-box binding protein 1 gene DOID:9007692 Insulin Resistance ISO RGD:1332312 D RGD:9068941 20200609 RGD PMID:15486293|REF_RGD_ID:2326004 12044920 XBP1 X-box binding protein 1 gene DOID:9007692 Insulin Resistance ISO RGD:1352787 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27325692 12044920 XBP1 X-box binding protein 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1352787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 12044920 XBP1 X-box binding protein 1 gene DOID:9452 fatty liver disease ISO RGD:1352787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097666 12044929 VSNL1 visinin like 1 gene DOID:10652 Alzheimer's disease ISO RGD:737420 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25806004 12044942 OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:737583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:28492532 12044942 OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:12930 dilated cardiomyopathy ISO RGD:737583 D RGD:9068941 20200609 RGD PMID:15345656|REF_RGD_ID:1580779 12044942 OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:1540 parathyroid carcinoma ISO RGD:737583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12044942 OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:630 genetic disease ISO RGD:737583 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356970|PMID:28492532 12044942 OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:9000161 Autosomal Recessive Nonsyndromic Deafness 120 ISO RGD:737583 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 120 12044942 OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:9000884 Rhabdomyolysis ISO RGD:737583 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis, susceptibility to, 1 PMID:16199547|PMID:28492532|PMID:34957489 12044942 OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:9000884 Rhabdomyolysis susceptibility ISO RGD:737583 D RGD:7240710 20230215 OMIM 12044942 OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:9007661 Dwarfism ISO RGD:737583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12044942 OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12045070 SNAP23 synaptosome associated protein 23 gene DOID:2717 Bloom syndrome ISO RGD:1604652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12045070 SNAP23 synaptosome associated protein 23 gene DOID:630 genetic disease ISO RGD:1604652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045070 SNAP23 synaptosome associated protein 23 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12045070 SNAP23 synaptosome associated protein 23 gene DOID:9007102 Myocardial Ischemia ISO RGD:1604652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12045070 SNAP23 synaptosome associated protein 23 gene DOID:9256 colorectal cancer ISO RGD:1604652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12045092 GLT8D1 glycosyltransferase 8 domain containing 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1348884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 12045092 GLT8D1 glycosyltransferase 8 domain containing 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1348884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 12045092 GLT8D1 glycosyltransferase 8 domain containing 1 gene DOID:630 genetic disease ISO RGD:1348884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045092 GLT8D1 glycosyltransferase 8 domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12045092 GLT8D1 glycosyltransferase 8 domain containing 1 gene DOID:9255 frontotemporal dementia ISO RGD:1348884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia 12045124 POLDIP3 DNA polymerase delta interacting protein 3 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1322337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 12045124 POLDIP3 DNA polymerase delta interacting protein 3 gene DOID:1059 intellectual disability ISO RGD:1322337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12045124 POLDIP3 DNA polymerase delta interacting protein 3 gene DOID:630 genetic disease ISO RGD:1322337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045124 POLDIP3 DNA polymerase delta interacting protein 3 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1322337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 12045140 IGSF9B immunoglobulin superfamily member 9B gene DOID:0111723 Jacobsen Syndrome ISO RGD:1604824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12045140 IGSF9B immunoglobulin superfamily member 9B gene DOID:5419 schizophrenia ISO RGD:1604824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12045140 IGSF9B immunoglobulin superfamily member 9B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12045140 IGSF9B immunoglobulin superfamily member 9B gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1604824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:16857760|PMID:21109224|PMID:23255084|PMID:28492532 12045166 XRCC5 X-ray repair cross complementing 5 gene DOID:1749 squamous cell carcinoma ISO RGD:733855 D RGD:9068941 20200609 RGD protein:increased expression:epidermal cell, squamous cell of epidermis (human) PMID:16497868|REF_RGD_ID:8698657 12045166 XRCC5 X-ray repair cross complementing 5 gene DOID:1993 rectum cancer susceptibility ISO RGD:733855 D RGD:9068941 20220303 RGD DNA:SNP:3'utr: (rs1051677) (human) PMID:26735576|REF_RGD_ID:151361212 12045166 XRCC5 X-ray repair cross complementing 5 gene DOID:2513 basal cell carcinoma ISO RGD:733855 D RGD:9068941 20200609 RGD protein:increased expression:epidermal cell, basal cell of epidermis (human) PMID:16497868|REF_RGD_ID:8698657 12045166 XRCC5 X-ray repair cross complementing 5 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:733855 D RGD:9068941 20200609 RGD DNA:SNPs:multiple (human) PMID:20463177|REF_RGD_ID:8698653 12045166 XRCC5 X-ray repair cross complementing 5 gene DOID:3910 lung adenocarcinoma ISO RGD:733855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12045166 XRCC5 X-ray repair cross complementing 5 gene DOID:630 genetic disease ISO RGD:733855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045166 XRCC5 X-ray repair cross complementing 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12045166 XRCC5 X-ray repair cross complementing 5 gene DOID:9006205 Animal Disease Models ISO RGD:733855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12045166 XRCC5 X-ray repair cross complementing 5 gene DOID:9538 multiple myeloma susceptibility ISO RGD:733855 D RGD:9068941 20200609 RGD DNA:SNP:3'-UTR (human) PMID:17901044|REF_RGD_ID:8698655 12045186 AJUBA ajuba LIM protein gene DOID:0060439 lysinuric protein intolerance ISO RGD:1343876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12045186 AJUBA ajuba LIM protein gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1343876 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 12045186 AJUBA ajuba LIM protein gene DOID:630 genetic disease ISO RGD:1343876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045186 AJUBA ajuba LIM protein gene DOID:9000265 Specific Granule Deficiency ISO RGD:1343876 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12045186 AJUBA ajuba LIM protein gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343876 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12045202 MAPK6 mitogen-activated protein kinase 6 gene DOID:0080600 COVID-19 ISO RGD:733646 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12045202 MAPK6 mitogen-activated protein kinase 6 gene DOID:2717 Bloom syndrome ISO RGD:733646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12045202 MAPK6 mitogen-activated protein kinase 6 gene DOID:607 paraplegia ISO RGD:733646 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 12045202 MAPK6 mitogen-activated protein kinase 6 gene DOID:630 genetic disease ISO RGD:733646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045202 MAPK6 mitogen-activated protein kinase 6 gene DOID:9002221 Hyperplasia ISO RGD:733646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561872 12045202 MAPK6 mitogen-activated protein kinase 6 gene DOID:9256 colorectal cancer ISO RGD:733646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12045212 MPP2 MAGUK p55 scaffold protein 2 gene DOID:630 genetic disease ISO RGD:1346408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045232 MORF4L2 mortality factor 4 like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12045232 MORF4L2 mortality factor 4 like 2 gene DOID:0110773 hereditary spastic paraplegia 2 ISO RGD:1347861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 PMID:10417279|PMID:16380909|PMID:18160035|PMID:19328639|PMID:28492532|PMID:9634530 12045232 MORF4L2 mortality factor 4 like 2 gene DOID:12849 autistic disorder ISO RGD:1347861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12045232 MORF4L2 mortality factor 4 like 2 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1347861 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:31690835|PMID:9633722|PMID:9634530 12045232 MORF4L2 mortality factor 4 like 2 gene DOID:630 genetic disease ISO RGD:1347861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045232 MORF4L2 mortality factor 4 like 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1347861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12045262 SLC12A8 solute carrier family 12 member 8 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1345509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12045262 SLC12A8 solute carrier family 12 member 8 gene DOID:630 genetic disease ISO RGD:1345509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045262 SLC12A8 solute carrier family 12 member 8 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1345509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 12045262 SLC12A8 solute carrier family 12 member 8 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1345509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 12045262 SLC12A8 solute carrier family 12 member 8 gene DOID:9270 alkaptonuria ISO RGD:1345509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12045301 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1319736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:17576681|PMID:25741868|PMID:28492532|PMID:33097395|PMID:9536098 12045301 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1319736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12045301 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:0080855 Parkinsonism ISO RGD:1309406 D RGD:9068941 20200609 RGD PMID:20403401|REF_RGD_ID:13824972 12045301 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1319736 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:17576681|PMID:25741868|PMID:28492532|PMID:33097395|PMID:9536098 12045301 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:0112081 nuclear type mitochondrial complex I deficiency 8 ISO RGD:1319736 D RGD:7240710 20190315 OMIM 12045301 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:0112081 nuclear type mitochondrial complex I deficiency 8 ISO RGD:1319736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 PMID:14729820|PMID:17576681|PMID:22499348|PMID:25741868|PMID:28492532|PMID:30140060|PMID:33097395|PMID:9536098 12045301 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:1059 intellectual disability ISO RGD:1319736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12045301 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:10652 Alzheimer's disease onset ISO RGD:1319736 D RGD:9068941 20200609 RGD PMID:28242297|REF_RGD_ID:13824970 12045301 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:3652 Leigh disease ISO RGD:1319736 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:33097395|PMID:9536098 12045301 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:5723 optic atrophy ISO RGD:1319736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14729820 12045301 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:630 genetic disease ISO RGD:1319736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12045301 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1319736 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:33097395|PMID:9536098 12045301 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1309406 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:kidney,glomerulus PMID:22903132|REF_RGD_ID:8552684 12045301 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:1309406 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22591908|REF_RGD_ID:13792578 12045301 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:9003936 Cardiomegaly ISO RGD:1309406 D RGD:9068941 20200609 RGD PMID:24388463|REF_RGD_ID:7800726 12045301 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1309406 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brain PMID:22387129|REF_RGD_ID:13824971 12045301 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1309406 D RGD:9068941 20200609 RGD protein:decreased expression:dorsal root ganglia (rat) PMID:20876714|REF_RGD_ID:6484699 12045301 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1319736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12045301 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:9008939 Breast Neoplasms ISO RGD:1319736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 12045312 NOS1 nitric oxide synthase 1 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25511929 12045312 NOS1 nitric oxide synthase 1 gene DOID:0050700 cardiomyopathy ISO RGD:3184 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:cardiomyocyte PMID:17721248|REF_RGD_ID:1642134 12045312 NOS1 nitric oxide synthase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:619551 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12045312 NOS1 nitric oxide synthase 1 gene DOID:0080855 Parkinsonism ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:23967645|REF_RGD_ID:7257596 12045312 NOS1 nitric oxide synthase 1 gene DOID:0080998 acute necrotizing pancreatitis treatment ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:23300603|REF_RGD_ID:7257665 12045312 NOS1 nitric oxide synthase 1 gene DOID:10652 Alzheimer's disease ISO RGD:619551 D RGD:9068941 20200609 RGD PMID:10964481|PMID:12384247|REF_RGD_ID:13824976|REF_RGD_ID:13824978 12045312 NOS1 nitric oxide synthase 1 gene DOID:10652 Alzheimer's disease ISO RGD:619551 D RGD:9068941 20200609 RGD DNA:repeat:exon PMID:17418914|REF_RGD_ID:13824975 12045312 NOS1 nitric oxide synthase 1 gene DOID:10652 Alzheimer's disease no_association ISO RGD:619551 D RGD:9068941 20200609 RGD DNA:SNP:exon:-84G>A (human) PMID:17418914|REF_RGD_ID:13824975 12045312 NOS1 nitric oxide synthase 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:619551 D RGD:9068941 20200609 RGD DNA:repeat:promoter PMID:21098972|REF_RGD_ID:13824974 12045312 NOS1 nitric oxide synthase 1 gene DOID:10762 portal hypertension treatment ISO RGD:3184 D RGD:9068941 20200609 RGD associated with liver cirrhosis PMID:10727442|REF_RGD_ID:13824993 12045312 NOS1 nitric oxide synthase 1 gene DOID:10763 hypertension ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:15775788|PMID:15913838|PMID:16093913|PMID:20494920|REF_RGD_ID:1581141|REF_RGD_ID:1581142|REF_RGD_ID:1581143|REF_RGD_ID:5132600 12045312 NOS1 nitric oxide synthase 1 gene DOID:10763 hypertension ISO RGD:3184 D RGD:9068941 20200609 RGD mRNA:decreased expression:bladder, penis PMID:17574276|REF_RGD_ID:1642127 12045312 NOS1 nitric oxide synthase 1 gene DOID:10763 hypertension treatment ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:23201071|REF_RGD_ID:7257668 12045312 NOS1 nitric oxide synthase 1 gene DOID:10941 intracranial aneurysm ISO RGD:10991 D RGD:9068941 20200609 RGD PMID:21321533|REF_RGD_ID:5131897 12045312 NOS1 nitric oxide synthase 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:619551 D RGD:9068941 20200609 RGD PMID:9542584|REF_RGD_ID:13825135 12045312 NOS1 nitric oxide synthase 1 gene DOID:1184 nephrotic syndrome ISO RGD:3184 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:12853118|REF_RGD_ID:1642133 12045312 NOS1 nitric oxide synthase 1 gene DOID:12577 urethral obstruction ISO RGD:3184 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:23766828|REF_RGD_ID:7257604 12045312 NOS1 nitric oxide synthase 1 gene DOID:12638 hypertrophic pyloric stenosis ISO RGD:10991 D RGD:9068941 20220825 MouseDO OMIM:179010 | OMIM:300711 | OMIM:610260 | OMIM:612017 | OMIM:612525 12045312 NOS1 nitric oxide synthase 1 gene DOID:12935 alcoholic cardiomyopathy ISO RGD:3184 D RGD:9068941 20200609 RGD protein:decreased expression:skeletal muscle, membrane PMID:17607508|REF_RGD_ID:1642138 12045312 NOS1 nitric oxide synthase 1 gene DOID:13025 retinopathy of prematurity ISO RGD:3184 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:23204802|REF_RGD_ID:7257667 12045312 NOS1 nitric oxide synthase 1 gene DOID:13413 hepatic encephalopathy ISO RGD:3184 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19763802|REF_RGD_ID:5132590 12045312 NOS1 nitric oxide synthase 1 gene DOID:13413 hepatic encephalopathy ISO RGD:3184 D RGD:9068941 20200609 RGD protein:increased expression:neocortex PMID:17083474|REF_RGD_ID:1642151 12045312 NOS1 nitric oxide synthase 1 gene DOID:13413 hepatic encephalopathy ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10206825|PMID:10564534 12045312 NOS1 nitric oxide synthase 1 gene DOID:14330 Parkinson's disease ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26383258 12045312 NOS1 nitric oxide synthase 1 gene DOID:14330 Parkinson's disease ISO RGD:619551 D RGD:9068941 20200609 RGD PMID:11809160|REF_RGD_ID:1358519 12045312 NOS1 nitric oxide synthase 1 gene DOID:14330 Parkinson's disease ISO RGD:619551 D RGD:9068941 20200609 RGD RNA, protein:increased expression:neutrophil PMID:11020342|REF_RGD_ID:5132632 12045312 NOS1 nitric oxide synthase 1 gene DOID:1470 major depressive disorder ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:25001963|REF_RGD_ID:13825137 12045312 NOS1 nitric oxide synthase 1 gene DOID:1485 cystic fibrosis ISO RGD:619551 D RGD:9068941 20200609 RGD PMID:11890749|REF_RGD_ID:5132868 12045312 NOS1 nitric oxide synthase 1 gene DOID:1485 cystic fibrosis ISO RGD:619551 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:12064512|REF_RGD_ID:5132865 12045312 NOS1 nitric oxide synthase 1 gene DOID:1485 cystic fibrosis disease_progression ISO RGD:619551 D RGD:9068941 20200609 RGD DNA:repeats:5'utr PMID:14760158|REF_RGD_ID:5132627 12045312 NOS1 nitric oxide synthase 1 gene DOID:150 disease of mental health ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17426488 12045312 NOS1 nitric oxide synthase 1 gene DOID:1591 renovascular hypertension ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:16788145|REF_RGD_ID:1642130 12045312 NOS1 nitric oxide synthase 1 gene DOID:1596 depressive disorder ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17854383 12045312 NOS1 nitric oxide synthase 1 gene DOID:1596 depressive disorder treatment ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:20571741|REF_RGD_ID:13824995 12045312 NOS1 nitric oxide synthase 1 gene DOID:1824 status epilepticus ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20149694 12045312 NOS1 nitric oxide synthase 1 gene DOID:1875 impotence ISO RGD:3184 D RGD:9068941 20200609 RGD associated with Urethral Obstruction;protein:decreased expression:penis erectile tissue PMID:23535456|REF_RGD_ID:7257656 12045312 NOS1 nitric oxide synthase 1 gene DOID:1875 impotence treatment ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:23522997|REF_RGD_ID:7257657 12045312 NOS1 nitric oxide synthase 1 gene DOID:1875 impotence treatment ISO RGD:3184 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23698784|REF_RGD_ID:7244246 12045312 NOS1 nitric oxide synthase 1 gene DOID:2074 intestinal perforation ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18030227 12045312 NOS1 nitric oxide synthase 1 gene DOID:224 transient cerebral ischemia ISO RGD:3184 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:dentate gyrus PMID:23806217|REF_RGD_ID:7257600 12045312 NOS1 nitric oxide synthase 1 gene DOID:231 motor neuron disease ISO RGD:619551 D RGD:9068941 20200609 RGD protein:decreased expression;motor neuron PMID:12200626|REF_RGD_ID:5132629 12045312 NOS1 nitric oxide synthase 1 gene DOID:2316 brain ischemia ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:17451676|REF_RGD_ID:1642142 12045312 NOS1 nitric oxide synthase 1 gene DOID:2316 brain ischemia ISO RGD:3184 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:21718970|REF_RGD_ID:6480433 12045312 NOS1 nitric oxide synthase 1 gene DOID:2349 arteriosclerosis ISO RGD:10991 D RGD:9068941 20200609 RGD PMID:16627802|REF_RGD_ID:1642131 12045312 NOS1 nitric oxide synthase 1 gene DOID:2560 morphine dependence ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17989510 12045312 NOS1 nitric oxide synthase 1 gene DOID:2786 cerebellar disease ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25511929 12045312 NOS1 nitric oxide synthase 1 gene DOID:2841 asthma ISO RGD:619551 D RGD:9068941 20200609 RGD DNA:repeats: : PMID:10673365|REF_RGD_ID:5132869 12045312 NOS1 nitric oxide synthase 1 gene DOID:2841 asthma ISO RGD:619551 D RGD:9068941 20200609 RGD DNA:repeats:exon PMID:10833424|REF_RGD_ID:5132860 12045312 NOS1 nitric oxide synthase 1 gene DOID:2841 asthma susceptibility ISO RGD:619551 D RGD:9068941 20200609 RGD DNA:repeats:intron PMID:14767694|PMID:20609134|REF_RGD_ID:5132615|REF_RGD_ID:5132863 12045312 NOS1 nitric oxide synthase 1 gene DOID:3021 acute kidney failure ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:14531809|REF_RGD_ID:13825139 12045312 NOS1 nitric oxide synthase 1 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:619551 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:19797159|REF_RGD_ID:5132607 12045312 NOS1 nitric oxide synthase 1 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:619551 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:12816735|REF_RGD_ID:5132628 12045312 NOS1 nitric oxide synthase 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:3184 D RGD:9068941 20200609 RGD protein:increased expression:forebrain, postsynaptic density PMID:11226670|REF_RGD_ID:5147998 12045312 NOS1 nitric oxide synthase 1 gene DOID:5419 schizophrenia ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:20802999|REF_RGD_ID:5131923 12045312 NOS1 nitric oxide synthase 1 gene DOID:5419 schizophrenia ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18923069 12045312 NOS1 nitric oxide synthase 1 gene DOID:6000 congestive heart failure ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:15466641|PMID:23832698|REF_RGD_ID:1581144|REF_RGD_ID:7257598 12045312 NOS1 nitric oxide synthase 1 gene DOID:630 genetic disease ISO RGD:619551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045312 NOS1 nitric oxide synthase 1 gene DOID:670 amphetamine abuse ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15542708 12045312 NOS1 nitric oxide synthase 1 gene DOID:783 end stage renal disease ISO RGD:3184 D RGD:9068941 20200609 RGD protein:decreased expression:kidney cortex PMID:17200156|REF_RGD_ID:1642147 12045312 NOS1 nitric oxide synthase 1 gene DOID:783 end stage renal disease treatment ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:23185775|REF_RGD_ID:7257669 12045312 NOS1 nitric oxide synthase 1 gene DOID:863 nervous system disease ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9495865 12045312 NOS1 nitric oxide synthase 1 gene DOID:8947 diabetic retinopathy ISO RGD:3184 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:retina PMID:17545029|REF_RGD_ID:1642141 12045312 NOS1 nitric oxide synthase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:20633123|REF_RGD_ID:5131936 12045312 NOS1 nitric oxide synthase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3184 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:19291395|REF_RGD_ID:5132595 12045312 NOS1 nitric oxide synthase 1 gene DOID:9000564 Prehypertension ISO RGD:3184 D RGD:9068941 20200609 RGD protein:decreased expression:stellate interneuron PMID:23172925|REF_RGD_ID:7257670 12045312 NOS1 nitric oxide synthase 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:10991 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19286931|REF_RGD_ID:5132864 12045312 NOS1 nitric oxide synthase 1 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20726721 12045312 NOS1 nitric oxide synthase 1 gene DOID:9000972 Fever ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9495865 12045312 NOS1 nitric oxide synthase 1 gene DOID:9001488 Human Influenza ISO RGD:10991 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:9552178|REF_RGD_ID:5132870 12045312 NOS1 nitric oxide synthase 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:3184 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:10966937|REF_RGD_ID:13824991 12045312 NOS1 nitric oxide synthase 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:3184 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:23548923|REF_RGD_ID:7257655 12045312 NOS1 nitric oxide synthase 1 gene DOID:9002211 Hyperalgesia ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:23909597|REF_RGD_ID:7257597 12045312 NOS1 nitric oxide synthase 1 gene DOID:9002211 Hyperalgesia ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19300402 12045312 NOS1 nitric oxide synthase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3184 D RGD:9068941 20200609 RGD associated with hyperinsulinemia; protein:decreased expression:placenta PMID:19709742|REF_RGD_ID:5132592 12045312 NOS1 nitric oxide synthase 1 gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25511929 12045312 NOS1 nitric oxide synthase 1 gene DOID:9002669 Hypoxia ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10956627 12045312 NOS1 nitric oxide synthase 1 gene DOID:9002955 Nerve Degeneration ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10791088|PMID:9436549 12045312 NOS1 nitric oxide synthase 1 gene DOID:9003420 Carbon Monoxide Poisoning ISO RGD:10991 D RGD:9068941 20200609 RGD PMID:14761684|REF_RGD_ID:13825130 12045312 NOS1 nitric oxide synthase 1 gene DOID:9003420 Carbon Monoxide Poisoning ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:14761684|REF_RGD_ID:13825130 12045312 NOS1 nitric oxide synthase 1 gene DOID:9003919 Urination Disorders ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9142130 12045312 NOS1 nitric oxide synthase 1 gene DOID:9003936 Cardiomegaly ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:17673519|REF_RGD_ID:1642136 12045312 NOS1 nitric oxide synthase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:17451676|REF_RGD_ID:1642142 12045312 NOS1 nitric oxide synthase 1 gene DOID:9004370 Infantile Hypertrophic Pyloric Stenosis 1 ISO RGD:619551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyloric stenosis, infantile hypertrophic, 1 PMID:14757827|PMID:19851341 12045312 NOS1 nitric oxide synthase 1 gene DOID:9004484 Sepsis ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:17191663|REF_RGD_ID:1642148 12045312 NOS1 nitric oxide synthase 1 gene DOID:9004649 Heat Stroke ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:16950411|REF_RGD_ID:1642129 12045312 NOS1 nitric oxide synthase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3184 D RGD:9068941 20200609 RGD protein:decreased dimerization:stomach PMID:17347455|REF_RGD_ID:1642144 12045312 NOS1 nitric oxide synthase 1 gene DOID:9005968 Neuralgia treatment ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:23342771|REF_RGD_ID:7257658 12045312 NOS1 nitric oxide synthase 1 gene DOID:9006062 Nervous System Trauma ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10531423 12045312 NOS1 nitric oxide synthase 1 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:17913382|REF_RGD_ID:5130174 12045312 NOS1 nitric oxide synthase 1 gene DOID:9007096 Stroke ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:19408167|REF_RGD_ID:5132594 12045312 NOS1 nitric oxide synthase 1 gene DOID:9007174 Ventricular Remodeling ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16344403 12045312 NOS1 nitric oxide synthase 1 gene DOID:9007877 Fetal Hypoxia ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:17310378|REF_RGD_ID:1642145 12045312 NOS1 nitric oxide synthase 1 gene DOID:9007993 Dehydration ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:16052497|REF_RGD_ID:13825136 12045312 NOS1 nitric oxide synthase 1 gene DOID:9007996 End Stage Liver Disease ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15025246 12045312 NOS1 nitric oxide synthase 1 gene DOID:9008023 Memory Disorders ISO RGD:3184 D RGD:9068941 20200609 RGD associated with Status Epilepticus PMID:17549628|REF_RGD_ID:1642140 12045312 NOS1 nitric oxide synthase 1 gene DOID:9164 achalasia ISO RGD:10991 D RGD:9068941 20220825 MouseDO OMIM:200400 12045312 NOS1 nitric oxide synthase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:16323284|REF_RGD_ID:1581689 12045312 NOS1 nitric oxide synthase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21666113 12045312 NOS1 nitric oxide synthase 1 gene DOID:9970 obesity ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:16316351|REF_RGD_ID:1642132 12045372 USP15 ubiquitin specific peptidase 15 gene DOID:630 genetic disease ISO RGD:733296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045372 USP15 ubiquitin specific peptidase 15 gene DOID:8552 chronic myeloid leukemia ISO RGD:733296 D RGD:9068941 20220414 RGD mRNA, protein:decreased expression:PBMC (human) PMID:31952546|REF_RGD_ID:151667904 12045372 USP15 ubiquitin specific peptidase 15 gene DOID:9743 diabetic neuropathy ISO RGD:733296 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35478295 12045406 CLSPN claspin gene DOID:0080600 COVID-19 ISO RGD:1319224 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12045406 CLSPN claspin gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12045406 CLSPN claspin gene DOID:2661 myoepithelioma ISO RGD:1319224 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12045406 CLSPN claspin gene DOID:630 genetic disease ISO RGD:1319224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045441 HDX highly divergent homeobox gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12045441 HDX highly divergent homeobox gene DOID:12849 autistic disorder ISO RGD:1348226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12045441 HDX highly divergent homeobox gene DOID:630 genetic disease ISO RGD:1348226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045470 CRY1 cryptochrome circadian regulator 1 gene DOID:0050628 advanced sleep phase syndrome ISO RGD:1353919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12045470 CRY1 cryptochrome circadian regulator 1 gene DOID:0080600 COVID-19 ISO RGD:1353919 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12045470 CRY1 cryptochrome circadian regulator 1 gene DOID:0111141 delayed sleep phase syndrome ISO RGD:1353919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Delayed sleep phase syndrome, susceptibility to PMID:28388406|PMID:32538895 12045470 CRY1 cryptochrome circadian regulator 1 gene DOID:0111141 delayed sleep phase syndrome susceptibility ISO RGD:1353919 D RGD:7240710 20220824 OMIM 12045470 CRY1 cryptochrome circadian regulator 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1353919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:28388406|PMID:32538895 12045470 CRY1 cryptochrome circadian regulator 1 gene DOID:630 genetic disease ISO RGD:1353919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045470 CRY1 cryptochrome circadian regulator 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:1353919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16999817 12045470 CRY1 cryptochrome circadian regulator 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12045492 RPP38 ribonuclease P/MRP subunit p38 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1316690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12045492 RPP38 ribonuclease P/MRP subunit p38 gene DOID:1909 melanoma ISO RGD:1316690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12045492 RPP38 ribonuclease P/MRP subunit p38 gene DOID:630 genetic disease ISO RGD:1316690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045511 C2BH2orf88 chromosome 2B C2orf88 homolog gene DOID:0111072 myostatin-related muscle hypertrophy ISO RGD:1601946 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Myostatin-related muscle hypertrophy PMID:10610713|PMID:11555072|PMID:15215484|PMID:19232494|PMID:20301671|PMID:21283721|PMID:24479661|PMID:28492532 12045511 C2BH2orf88 chromosome 2B C2orf88 homolog gene DOID:0111944 immunodeficiency 31B ISO RGD:1601946 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 12045511 C2BH2orf88 chromosome 2B C2orf88 homolog gene DOID:630 genetic disease ISO RGD:1601946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045511 C2BH2orf88 chromosome 2B C2orf88 homolog gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1601946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12045511 C2BH2orf88 chromosome 2B C2orf88 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12045527 FFAR2 free fatty acid receptor 2 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1347517 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12045527 FFAR2 free fatty acid receptor 2 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1347517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12045527 FFAR2 free fatty acid receptor 2 gene DOID:10825 essential hypertension ISO RGD:1347517 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 12045527 FFAR2 free fatty acid receptor 2 gene DOID:543 dystonia ISO RGD:1347517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12045527 FFAR2 free fatty acid receptor 2 gene DOID:630 genetic disease ISO RGD:1347517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045533 LGALS1 galectin 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1347735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12045533 LGALS1 galectin 1 gene DOID:0080600 COVID-19 ISO RGD:1347735 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12045533 LGALS1 galectin 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1347735 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12045533 LGALS1 galectin 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1347735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12045533 LGALS1 galectin 1 gene DOID:10952 nephritis ISO RGD:1347735 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11044214 12045533 LGALS1 galectin 1 gene DOID:10966 lipoid nephrosis ISO RGD:69355 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus, podocytes (rat) PMID:19079321|REF_RGD_ID:2316526 12045533 LGALS1 galectin 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1347735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12045533 LGALS1 galectin 1 gene DOID:13619 extrahepatic cholestasis ISO RGD:69355 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:18225978|REF_RGD_ID:2316551 12045533 LGALS1 galectin 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1347735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 12045533 LGALS1 galectin 1 gene DOID:5082 liver cirrhosis ISO RGD:1347735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 12045533 LGALS1 galectin 1 gene DOID:630 genetic disease ISO RGD:1347735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045533 LGALS1 galectin 1 gene DOID:707 B-cell lymphoma ISO RGD:69355 D RGD:9068941 20200609 RGD protein:increased expression:primary tumor (rat) PMID:16733672|REF_RGD_ID:2316550 12045533 LGALS1 galectin 1 gene DOID:9000058 Keloid ISO RGD:1347735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12045533 LGALS1 galectin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12045541 PRG3 proteoglycan 3, pro eosinophil major basic protein 2 gene DOID:1059 intellectual disability ISO RGD:1320501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12045541 PRG3 proteoglycan 3, pro eosinophil major basic protein 2 gene DOID:630 genetic disease ISO RGD:1320501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045574 NYAP2 neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 gene DOID:630 genetic disease ISO RGD:2311477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045574 NYAP2 neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2311477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12045596 RGS3 regulator of G protein signaling 3 gene DOID:12528 lesion of sciatic nerve ISO RGD:3566 D RGD:9068941 20200609 RGD mRNA:decreased expression:dorsal root ganglion PMID:14550772|REF_RGD_ID:13524539 12045596 RGS3 regulator of G protein signaling 3 gene DOID:365 bladder disease treatment ISO RGD:3566 D RGD:9068941 20200609 RGD associated with hypertension PMID:19689474|REF_RGD_ID:9684972 12045596 RGS3 regulator of G protein signaling 3 gene DOID:630 genetic disease ISO RGD:731031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045596 RGS3 regulator of G protein signaling 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12045667 RNF128 ring finger protein 128 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12045667 RNF128 ring finger protein 128 gene DOID:1227 neutropenia ISO RGD:1603197 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:25741868 12045667 RNF128 ring finger protein 128 gene DOID:12849 autistic disorder ISO RGD:1603197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12045667 RNF128 ring finger protein 128 gene DOID:630 genetic disease ISO RGD:1603197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045680 RHBG Rh family B glycoprotein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1351825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12045680 RHBG Rh family B glycoprotein gene DOID:0111940 immunodeficiency 42 ISO RGD:1351825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12045680 RHBG Rh family B glycoprotein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1351825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12045680 RHBG Rh family B glycoprotein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1351825 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12045680 RHBG Rh family B glycoprotein gene DOID:1540 parathyroid carcinoma ISO RGD:1351825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12045680 RHBG Rh family B glycoprotein gene DOID:5812 MHC class II deficiency ISO RGD:1351825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12045680 RHBG Rh family B glycoprotein gene DOID:630 genetic disease ISO RGD:1351825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045680 RHBG Rh family B glycoprotein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12045710 EGFL7 EGF like domain multiple 7 gene DOID:0050777 Joubert syndrome ISO RGD:1602888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12045710 EGFL7 EGF like domain multiple 7 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1602888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12045710 EGFL7 EGF like domain multiple 7 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1602888 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12045710 EGFL7 EGF like domain multiple 7 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1602888 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12045710 EGFL7 EGF like domain multiple 7 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1602888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12045710 EGFL7 EGF like domain multiple 7 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1602888 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12045710 EGFL7 EGF like domain multiple 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1602888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 12045710 EGFL7 EGF like domain multiple 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1602888 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12045710 EGFL7 EGF like domain multiple 7 gene DOID:0081097 Rafiq syndrome ISO RGD:1602888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12045710 EGFL7 EGF like domain multiple 7 gene DOID:1826 epilepsy ISO RGD:1602888 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12045710 EGFL7 EGF like domain multiple 7 gene DOID:3652 Leigh disease ISO RGD:1602888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12045710 EGFL7 EGF like domain multiple 7 gene DOID:630 genetic disease ISO RGD:1602888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045710 EGFL7 EGF like domain multiple 7 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1602888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12045738 MBTPS1 membrane bound transcription factor peptidase, site 1 gene DOID:0060250 idiopathic scoliosis ISO RGD:737210 D RGD:9068941 20220825 MouseDO 12045738 MBTPS1 membrane bound transcription factor peptidase, site 1 gene DOID:0112283 spondyloepiphyseal dysplasia Kondo-Fu type ISO RGD:732575 D RGD:7240710 20190911 OMIM 12045738 MBTPS1 membrane bound transcription factor peptidase, site 1 gene DOID:0112283 spondyloepiphyseal dysplasia Kondo-Fu type ISO RGD:732575 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, kondo-fu type PMID:25741868|PMID:28492532|PMID:30046013|PMID:30099045|PMID:32064983 12045738 MBTPS1 membrane bound transcription factor peptidase, site 1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:732575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12045738 MBTPS1 membrane bound transcription factor peptidase, site 1 gene DOID:630 genetic disease ISO RGD:732575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12045738 MBTPS1 membrane bound transcription factor peptidase, site 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563831 12045738 MBTPS1 membrane bound transcription factor peptidase, site 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12045738 MBTPS1 membrane bound transcription factor peptidase, site 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 12045738 MBTPS1 membrane bound transcription factor peptidase, site 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:732575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12045765 ZBTB38 zinc finger and BTB domain containing 38 gene DOID:630 genetic disease ISO RGD:1603531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045813 LOC100980944 delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:732279 D RGD:9068941 20200609 RGD PMID:31961704|REF_RGD_ID:21408561 12045813 LOC100980944 delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:732278 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12045813 LOC100980944 delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial gene DOID:10603 glucose intolerance treatment ISO RGD:732279 D RGD:9068941 20200609 RGD PMID:31961704|REF_RGD_ID:21408561 12045813 LOC100980944 delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial gene DOID:630 genetic disease ISO RGD:732278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045813 LOC100980944 delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial gene DOID:9007692 Insulin Resistance treatment ISO RGD:732279 D RGD:9068941 20200609 RGD PMID:31961704|REF_RGD_ID:21408561 12045813 LOC100980944 delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial gene DOID:9352 type 2 diabetes mellitus ISO RGD:732278 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12045813 LOC100980944 delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial gene DOID:9970 obesity treatment ISO RGD:732279 D RGD:9068941 20200609 RGD PMID:31961704|REF_RGD_ID:21408561 12045827 MAPK12 mitogen-activated protein kinase 12 gene DOID:0060041 autism spectrum disorder ISO RGD:731716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 12045827 MAPK12 mitogen-activated protein kinase 12 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:731716 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12045827 MAPK12 mitogen-activated protein kinase 12 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:731716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12045827 MAPK12 mitogen-activated protein kinase 12 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:731716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 12045827 MAPK12 mitogen-activated protein kinase 12 gene DOID:10581 metachromatic leukodystrophy ISO RGD:731716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 12045827 MAPK12 mitogen-activated protein kinase 12 gene DOID:1059 intellectual disability ISO RGD:731716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12045827 MAPK12 mitogen-activated protein kinase 12 gene DOID:630 genetic disease ISO RGD:731716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045848 CHPF2 chondroitin polymerizing factor 2 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1604004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 12045848 CHPF2 chondroitin polymerizing factor 2 gene DOID:2843 long QT syndrome ISO RGD:1604004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 12045848 CHPF2 chondroitin polymerizing factor 2 gene DOID:630 genetic disease ISO RGD:1604004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045857 AP5Z1 adaptor related protein complex 5 subunit zeta 1 gene DOID:0110800 hereditary spastic paraplegia 48 ISO RGD:1626268 D RGD:7240710 20180130 OMIM 12045857 AP5Z1 adaptor related protein complex 5 subunit zeta 1 gene DOID:0110800 hereditary spastic paraplegia 48 ISO RGD:1626268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 48 PMID:16199547|PMID:17576681|PMID:20613862|PMID:24033266|PMID:24482476|PMID:24833714|PMID:24926664|PMID:25333062|PMID:25741868|PMID:26085577|PMID:26467025|PMID:27165006|PMID:27606357|PMID:28492532|PMID:28832565|PMID:29908077|PMID:30564185|PMID:31289639|PMID:31673878|PMID:31785789|PMID:32655478|PMID:32860008|PMID:32989326|PMID:9536098 12045857 AP5Z1 adaptor related protein complex 5 subunit zeta 1 gene DOID:11372 megacolon ISO RGD:1626268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12045857 AP5Z1 adaptor related protein complex 5 subunit zeta 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1626268 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:17576681|PMID:20613862|PMID:24033266|PMID:24833714|PMID:24926664|PMID:25333062|PMID:25741868|PMID:26467025|PMID:27606357|PMID:28492532|PMID:28832565|PMID:9536098 12045857 AP5Z1 adaptor related protein complex 5 subunit zeta 1 gene DOID:607 paraplegia ISO RGD:1626268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12045857 AP5Z1 adaptor related protein complex 5 subunit zeta 1 gene DOID:630 genetic disease ISO RGD:1626268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12045857 AP5Z1 adaptor related protein complex 5 subunit zeta 1 gene DOID:9002189 High Myopia ISO RGD:1626268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:28492532 12045882 CDK8 cyclin dependent kinase 8 gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:1348539 D RGD:9068941 20220929 RGD DNA:SNPs, haplotype:intron: (rs17083838, rs7992670) (human) PMID:34815954|REF_RGD_ID:155260314 12045882 CDK8 cyclin dependent kinase 8 gene DOID:14289 Ebstein anomaly ISO RGD:1348539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ebstein anomaly PMID:25741868 12045882 CDK8 cyclin dependent kinase 8 gene DOID:630 genetic disease ISO RGD:1348539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045882 CDK8 cyclin dependent kinase 8 gene DOID:9001861 INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES ISO RGD:1348539 D RGD:7240710 20200226 OMIM 12045882 CDK8 cyclin dependent kinase 8 gene DOID:9001861 INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES ISO RGD:1348539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia and behavioral abnormalities PMID:25741868|PMID:30905399 12045901 TRIM5 tripartite motif containing 5 gene DOID:10283 prostate cancer ISO RGD:1343210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12045901 TRIM5 tripartite motif containing 5 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1343210 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15249687 12045901 TRIM5 tripartite motif containing 5 gene DOID:630 genetic disease ISO RGD:1343210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045929 CSTF2 cleavage stimulation factor subunit 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12045929 CSTF2 cleavage stimulation factor subunit 2 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1351144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:21053371|PMID:23712037|PMID:27179713|PMID:28492532|PMID:29377098 12045929 CSTF2 cleavage stimulation factor subunit 2 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1351144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 12045929 CSTF2 cleavage stimulation factor subunit 2 gene DOID:12849 autistic disorder ISO RGD:1351144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12045929 CSTF2 cleavage stimulation factor subunit 2 gene DOID:630 genetic disease ISO RGD:1351144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045929 CSTF2 cleavage stimulation factor subunit 2 gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1351144 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 12045951 NXF3 nuclear RNA export factor 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12045951 NXF3 nuclear RNA export factor 3 gene DOID:12849 autistic disorder ISO RGD:1354288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12045951 NXF3 nuclear RNA export factor 3 gene DOID:630 genetic disease ISO RGD:1354288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045975 VMO1 vitelline membrane outer layer 1 homolog gene DOID:4450 renal cell carcinoma ISO RGD:1605251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 12045975 VMO1 vitelline membrane outer layer 1 homolog gene DOID:630 genetic disease ISO RGD:1605251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045993 DYRK4 dual specificity tyrosine phosphorylation regulated kinase 4 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1351667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 12045993 DYRK4 dual specificity tyrosine phosphorylation regulated kinase 4 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1351667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12045993 DYRK4 dual specificity tyrosine phosphorylation regulated kinase 4 gene DOID:630 genetic disease ISO RGD:1351667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12045993 DYRK4 dual specificity tyrosine phosphorylation regulated kinase 4 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1351667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12046029 CBR4 carbonyl reductase 4 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1602997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:22499340|PMID:28492532|PMID:29068549 12046029 CBR4 carbonyl reductase 4 gene DOID:1793 pancreatic cancer ISO RGD:1602997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 PMID:25741868|PMID:28492532 12046029 CBR4 carbonyl reductase 4 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1602997 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:17576681|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9536098 12046029 CBR4 carbonyl reductase 4 gene DOID:4905 pancreatic carcinoma ISO RGD:1602997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:17194196|PMID:28166811|PMID:28492532 12046029 CBR4 carbonyl reductase 4 gene DOID:630 genetic disease ISO RGD:1602997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12046029 CBR4 carbonyl reductase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602997 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25741868|PMID:28492532 12046029 CBR4 carbonyl reductase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28166811|PMID:28492532 12046063 CCN2 cellular communication network factor 2 gene DOID:0080001 bone disease ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA:increased expression:long bone (rat) PMID:10679821|REF_RGD_ID:632527 12046063 CCN2 cellular communication network factor 2 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24154679 12046063 CCN2 cellular communication network factor 2 gene DOID:10763 hypertension ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16685210 12046063 CCN2 cellular communication network factor 2 gene DOID:11714 gestational diabetes ISO RGD:731013 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34175429 12046063 CCN2 cellular communication network factor 2 gene DOID:12236 primary biliary cholangitis ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:19371232|REF_RGD_ID:2314517 12046063 CCN2 cellular communication network factor 2 gene DOID:12932 endomyocardial fibrosis ISO RGD:621392 D RGD:9068941 20200609 RGD PMID:19902320|REF_RGD_ID:2314357 12046063 CCN2 cellular communication network factor 2 gene DOID:12932 endomyocardial fibrosis ISO RGD:621392 D RGD:9068941 20200609 RGD protein:increased expression:myocardium, cardiomyocyte (rat) PMID:19293040|REF_RGD_ID:2314529 12046063 CCN2 cellular communication network factor 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17121042 12046063 CCN2 cellular communication network factor 2 gene DOID:13619 extrahepatic cholestasis ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 12046063 CCN2 cellular communication network factor 2 gene DOID:14330 Parkinson's disease ISO RGD:621392 D RGD:9068941 20200609 RGD protein:increased expression:substantia nigra (rat) PMID:19463894|REF_RGD_ID:2314505 12046063 CCN2 cellular communication network factor 2 gene DOID:2394 ovarian cancer ISO RGD:731013 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovarian carcinoma (human) PMID:19382180|REF_RGD_ID:2314512 12046063 CCN2 cellular communication network factor 2 gene DOID:2773 contact dermatitis ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12046063 CCN2 cellular communication network factor 2 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:621392 D RGD:9068941 20200609 RGD protein:increased expression:kidney, glomerulus (rat) PMID:15172885|REF_RGD_ID:1601118 12046063 CCN2 cellular communication network factor 2 gene DOID:299 adenocarcinoma ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 12046063 CCN2 cellular communication network factor 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (rat) PMID:19659652|REF_RGD_ID:2314483 12046063 CCN2 cellular communication network factor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15298857|PMID:15677772|PMID:25815693|PMID:26817844 12046063 CCN2 cellular communication network factor 2 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:621392 D RGD:9068941 20200609 RGD PMID:19154443|REF_RGD_ID:2314537 12046063 CCN2 cellular communication network factor 2 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:731014 D RGD:9068941 20200609 RGD PMID:19154443|REF_RGD_ID:2314537 12046063 CCN2 cellular communication network factor 2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20939759|PMID:21258935 12046063 CCN2 cellular communication network factor 2 gene DOID:397 restrictive cardiomyopathy ISO RGD:621392 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:cardiac muscle tissue (rat) PMID:19381071|REF_RGD_ID:2314513 12046063 CCN2 cellular communication network factor 2 gene DOID:4001 ovarian carcinoma ISO RGD:731013 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:30365097 12046063 CCN2 cellular communication network factor 2 gene DOID:418 systemic scleroderma ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24706986 12046063 CCN2 cellular communication network factor 2 gene DOID:5082 liver cirrhosis ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16652398|PMID:17657819|PMID:26396155 12046063 CCN2 cellular communication network factor 2 gene DOID:5082 liver cirrhosis ameliorates ISO RGD:621392 D RGD:9068941 20230401 RGD PMID:36469291|REF_RGD_ID:243048439 12046063 CCN2 cellular communication network factor 2 gene DOID:5082 liver cirrhosis ameliorates ISO RGD:731014 D RGD:9068941 20230401 RGD PMID:26946098|PMID:36469291|REF_RGD_ID:243048439|REF_RGD_ID:40925947 12046063 CCN2 cellular communication network factor 2 gene DOID:5199 ureteral obstruction ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:18987110|REF_RGD_ID:2314607 12046063 CCN2 cellular communication network factor 2 gene DOID:57 aortic valve insufficiency ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA:increased expression:left ventricle (rat) PMID:19112094|REF_RGD_ID:2314539 12046063 CCN2 cellular communication network factor 2 gene DOID:57 aortic valve insufficiency ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 12046063 CCN2 cellular communication network factor 2 gene DOID:5844 myocardial infarction ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA:increased expression:left ventricle (rat) PMID:18167060|REF_RGD_ID:2314623 12046063 CCN2 cellular communication network factor 2 gene DOID:5844 myocardial infarction treatment ISO RGD:621392 D RGD:9068941 20200716 RGD PMID:29849775|REF_RGD_ID:35673318 12046063 CCN2 cellular communication network factor 2 gene DOID:6000 congestive heart failure ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17229371 12046063 CCN2 cellular communication network factor 2 gene DOID:630 genetic disease ISO RGD:731013 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046063 CCN2 cellular communication network factor 2 gene DOID:6432 pulmonary hypertension ISO RGD:621392 D RGD:9068941 20200609 RGD protein:increased expression:pulmonary artery (rat) PMID:19234054|REF_RGD_ID:2314535 12046063 CCN2 cellular communication network factor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 12046063 CCN2 cellular communication network factor 2 gene DOID:850 lung disease ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20939759|PMID:21258935 12046063 CCN2 cellular communication network factor 2 gene DOID:8947 diabetic retinopathy ISO RGD:621392 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA:increased expression:retina (rat) PMID:19450451|REF_RGD_ID:2314507 12046063 CCN2 cellular communication network factor 2 gene DOID:9000784 Fibrosis ISO RGD:621392 D RGD:9068941 20200609 RGD PMID:18790236|REF_RGD_ID:2314612 12046063 CCN2 cellular communication network factor 2 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:621392 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:19080126|REF_RGD_ID:2314603 12046063 CCN2 cellular communication network factor 2 gene DOID:9000972 Fever ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA:increased expression:meninges (rat) PMID:19582783|REF_RGD_ID:2314489 12046063 CCN2 cellular communication network factor 2 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258935 12046063 CCN2 cellular communication network factor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:19856102|REF_RGD_ID:2314367 12046063 CCN2 cellular communication network factor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12046063 CCN2 cellular communication network factor 2 gene DOID:9002055 Chronic Allograft Nephropathy disease_progression ISO RGD:621392 D RGD:9068941 20211015 RGD mRNA, protein:increased expression:kidney (rat) PMID:19921985|REF_RGD_ID:150517553 12046063 CCN2 cellular communication network factor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:621392 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:kidney (rat) PMID:19065061|REF_RGD_ID:2314604 12046063 CCN2 cellular communication network factor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:621392 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:kidney, glomerulus (rat) PMID:19895808|REF_RGD_ID:2314366 12046063 CCN2 cellular communication network factor 2 gene DOID:9003291 Aggressive Fibromatosis ISO RGD:731013 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor (human) PMID:19366727|REF_RGD_ID:2314525 12046063 CCN2 cellular communication network factor 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:621392 D RGD:9068941 20200609 RGD PMID:19707545|REF_RGD_ID:2314476 12046063 CCN2 cellular communication network factor 2 gene DOID:9005172 Lung Neoplasms ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 12046063 CCN2 cellular communication network factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart, myocardium (rat) PMID:19820199|REF_RGD_ID:2314021 12046063 CCN2 cellular communication network factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621392 D RGD:9068941 20230302 RGD mRNA:increased expression:heart left ventricle (rat) PMID:19625611|REF_RGD_ID:2314487 12046063 CCN2 cellular communication network factor 2 gene DOID:9005749 Necrosis ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (rat) PMID:19395590|REF_RGD_ID:2314511 12046063 CCN2 cellular communication network factor 2 gene DOID:9006182 Carotid Artery Injuries ISO RGD:621392 D RGD:9068941 20200609 RGD protein:increased expression:arterial wall (rat) PMID:19570811|REF_RGD_ID:2314490 12046063 CCN2 cellular communication network factor 2 gene DOID:9006709 Primary Graft Dysfunction exacerbates ISO RGD:621392 D RGD:9068941 20211126 RGD protein:increased expression:urine (rat) PMID:19921985|REF_RGD_ID:150517553 12046063 CCN2 cellular communication network factor 2 gene DOID:9006958 Generalized Arterial Calcification of Infancy, 1 ISO RGD:731013 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 12046063 CCN2 cellular communication network factor 2 gene DOID:9007456 Female Infertility ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21868453 12046063 CCN2 cellular communication network factor 2 gene DOID:9007661 Dwarfism ISO RGD:731014 D RGD:9068941 20200609 RGD PMID:11237711|REF_RGD_ID:734846 12046063 CCN2 cellular communication network factor 2 gene DOID:9008163 Chronic Hepatitis B ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17657819 12046063 CCN2 cellular communication network factor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:left ventricle (rat) PMID:19902320|REF_RGD_ID:2314357 12046063 CCN2 cellular communication network factor 2 gene DOID:9477 pulmonary embolism ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA:increased expression:right ventricle (rat) PMID:19602618|REF_RGD_ID:2314488 12046063 CCN2 cellular communication network factor 2 gene DOID:971 tendinitis ISO RGD:621392 D RGD:9068941 20200609 RGD protein:increased expression:flexor digitorum profundus, flexor digitorum superficialis, fibroblast (rat) PMID:19743505|REF_RGD_ID:2314473 12046071 HMGCLL1 3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1 gene DOID:630 genetic disease ISO RGD:1352812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046084 DNAI7 dynein axonemal intermediate chain 7 gene DOID:1324 lung cancer ameliorates ISO RGD:1617228 D RGD:9068941 20220701 RGD DNA:missense mutation:CDS:p.N60S (mouse) PMID:14583591|REF_RGD_ID:152998907 12046084 DNAI7 dynein axonemal intermediate chain 7 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1617228 D RGD:9068941 20220701 RGD PMID:24860162|REF_RGD_ID:152998908 12046084 DNAI7 dynein axonemal intermediate chain 7 gene DOID:630 genetic disease ISO RGD:1322554 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046084 DNAI7 dynein axonemal intermediate chain 7 gene DOID:9005172 Lung Neoplasms ISO RGD:1322554 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:15064703 12046084 DNAI7 dynein axonemal intermediate chain 7 gene DOID:9005172 Lung Neoplasms susceptibility ISO RGD:1617228 D RGD:9068941 20220630 RGD PMID:16862160|REF_RGD_ID:11340955 12046103 AMER2 APC membrane recruitment protein 2 gene DOID:630 genetic disease ISO RGD:1604720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046110 ZNF547 zinc finger protein 547 gene DOID:630 genetic disease ISO RGD:1350845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046119 CYP26A1 cytochrome P450 family 26 subfamily A member 1 gene DOID:0050424 familial adenomatous polyposis ISO RGD:731375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16885356 12046119 CYP26A1 cytochrome P450 family 26 subfamily A member 1 gene DOID:0080016 spina bifida ISO RGD:731376 D RGD:9068941 20200609 RGD PMID:11953746|REF_RGD_ID:737785 12046119 CYP26A1 cytochrome P450 family 26 subfamily A member 1 gene DOID:289 endometriosis ISO RGD:731375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12046119 CYP26A1 cytochrome P450 family 26 subfamily A member 1 gene DOID:299 adenocarcinoma ISO RGD:731375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18059332 12046119 CYP26A1 cytochrome P450 family 26 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:731375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046119 CYP26A1 cytochrome P450 family 26 subfamily A member 1 gene DOID:7941 Barrett's adenocarcinoma ISO RGD:731375 D RGD:9068941 20200609 RGD PMID:18059332|REF_RGD_ID:13782259 12046119 CYP26A1 cytochrome P450 family 26 subfamily A member 1 gene DOID:8866 actinic keratosis ISO RGD:731375 D RGD:9068941 20200609 RGD PMID:22179182|REF_RGD_ID:13782258 12046119 CYP26A1 cytochrome P450 family 26 subfamily A member 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:731375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18059332 12046119 CYP26A1 cytochrome P450 family 26 subfamily A member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12046119 CYP26A1 cytochrome P450 family 26 subfamily A member 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:731375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16885356 12046119 CYP26A1 cytochrome P450 family 26 subfamily A member 1 gene DOID:9008550 Vitamin A Deficiency ISO RGD:620161 D RGD:9068941 20200609 RGD PMID:22554462|REF_RGD_ID:13782256 12046119 CYP26A1 cytochrome P450 family 26 subfamily A member 1 gene DOID:9008550 Vitamin A Deficiency treatment ISO RGD:731376 D RGD:9068941 20200609 RGD PMID:25451926|REF_RGD_ID:13782197 12046119 CYP26A1 cytochrome P450 family 26 subfamily A member 1 gene DOID:9206 Barrett's esophagus ISO RGD:731375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18059332 12046148 TMEM217 transmembrane protein 217 gene DOID:630 genetic disease ISO RGD:1343464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046222 OOSP2 oocyte secreted protein 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603163 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12046222 OOSP2 oocyte secreted protein 2 gene DOID:1059 intellectual disability ISO RGD:1603163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12046222 OOSP2 oocyte secreted protein 2 gene DOID:630 genetic disease ISO RGD:1603163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046230 UVSSA UV stimulated scaffold protein A gene DOID:0060240 UV-sensitive syndrome ISO RGD:1605974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22466610|PMID:22466612 12046230 UVSSA UV stimulated scaffold protein A gene DOID:1856 cherubism ISO RGD:1605974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12046230 UVSSA UV stimulated scaffold protein A gene DOID:630 genetic disease ISO RGD:1605974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046230 UVSSA UV stimulated scaffold protein A gene DOID:9006357 UV-Sensitive Syndrome 3 ISO RGD:1605974 D RGD:7240710 20180130 OMIM 12046230 UVSSA UV stimulated scaffold protein A gene DOID:9006357 UV-Sensitive Syndrome 3 ISO RGD:1605974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: UV-sensitive syndrome 3 PMID:10771487|PMID:19329487|PMID:22466610|PMID:22466612|PMID:25741868|PMID:3774595|PMID:3974603|PMID:7513056 12046267 EMC9 ER membrane protein complex subunit 9 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1317698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12046267 EMC9 ER membrane protein complex subunit 9 gene DOID:630 genetic disease ISO RGD:1317698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046267 EMC9 ER membrane protein complex subunit 9 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1317698 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12046267 EMC9 ER membrane protein complex subunit 9 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1317698 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12046280 B3GNT6 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 gene DOID:1059 intellectual disability ISO RGD:1601928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12046280 B3GNT6 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 gene DOID:630 genetic disease ISO RGD:1601928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046280 B3GNT6 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1601928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 12046286 LOC100976806 olfactory receptor 2A2 gene DOID:630 genetic disease ISO RGD:1348102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046296 HOXA5 homeobox A5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:734224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12046296 HOXA5 homeobox A5 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:734224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22227861 12046296 HOXA5 homeobox A5 gene DOID:630 genetic disease ISO RGD:734224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046296 HOXA5 homeobox A5 gene DOID:9007364 Mouth Neoplasms ISO RGD:734224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22227861 12046296 HOXA5 homeobox A5 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:734224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18351244 12046303 P4HTM prolyl 4-hydroxylase, transmembrane gene DOID:1059 intellectual disability ISO RGD:1607023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:30940925 12046303 P4HTM prolyl 4-hydroxylase, transmembrane gene DOID:630 genetic disease ISO RGD:1607023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046303 P4HTM prolyl 4-hydroxylase, transmembrane gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1607023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12046303 P4HTM prolyl 4-hydroxylase, transmembrane gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1607023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12046303 P4HTM prolyl 4-hydroxylase, transmembrane gene DOID:9003689 HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES ISO RGD:1607023 D RGD:7240710 20190918 OMIM 12046303 P4HTM prolyl 4-hydroxylase, transmembrane gene DOID:9003689 HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES ISO RGD:1607023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES PMID:25078763|PMID:25741868|PMID:30940925 12046322 C5H5orf52 chromosome 5 C5orf52 homolog gene DOID:630 genetic disease ISO RGD:2303474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046329 PACRGL parkin coregulated like gene DOID:630 genetic disease ISO RGD:1605875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046398 PLEKHM1 pleckstrin homology and RUN domain containing M1 gene DOID:0110942 autosomal recessive osteopetrosis 1 ISO RGD:1354234 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 PMID:35342016|PMID:36195244 12046398 PLEKHM1 pleckstrin homology and RUN domain containing M1 gene DOID:0110945 autosomal recessive osteopetrosis 6 ISO RGD:1354234 D RGD:7240710 20180130 OMIM 12046398 PLEKHM1 pleckstrin homology and RUN domain containing M1 gene DOID:0110945 autosomal recessive osteopetrosis 6 ISO RGD:1354234 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 6 PMID:17404618|PMID:25741868 12046398 PLEKHM1 pleckstrin homology and RUN domain containing M1 gene DOID:1059 intellectual disability ISO RGD:1354234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12046398 PLEKHM1 pleckstrin homology and RUN domain containing M1 gene DOID:4254 osteosclerosis ISO RGD:1354234 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:25741868 12046398 PLEKHM1 pleckstrin homology and RUN domain containing M1 gene DOID:630 genetic disease ISO RGD:1354234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12046398 PLEKHM1 pleckstrin homology and RUN domain containing M1 gene DOID:9009253 Autosomal Dominant Osteopetrosis 3 ISO RGD:1354234 D RGD:7240710 20190315 OMIM 12046398 PLEKHM1 pleckstrin homology and RUN domain containing M1 gene DOID:9009253 Autosomal Dominant Osteopetrosis 3 ISO RGD:1354234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteopetrosis, autosomal dominant 3 PMID:17997709 12046431 TRMT11 tRNA methyltransferase 11 homolog gene DOID:3068 glioblastoma ISO RGD:1314969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12046431 TRMT11 tRNA methyltransferase 11 homolog gene DOID:3908 lung non-small cell carcinoma ISO RGD:1314969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12046431 TRMT11 tRNA methyltransferase 11 homolog gene DOID:630 genetic disease ISO RGD:1314969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046431 TRMT11 tRNA methyltransferase 11 homolog gene DOID:9000081 Lymphatic Metastasis ISO RGD:1314969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12046431 TRMT11 tRNA methyltransferase 11 homolog gene DOID:9000117 Esophageal Neoplasms ISO RGD:1314969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12046431 TRMT11 tRNA methyltransferase 11 homolog gene DOID:9002762 Ovarian Neoplasms ISO RGD:1314969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12046431 TRMT11 tRNA methyltransferase 11 homolog gene DOID:9002928 Colonic Neoplasms ISO RGD:1314969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12046431 TRMT11 tRNA methyltransferase 11 homolog gene DOID:9007188 Liver Neoplasms ISO RGD:1314969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12046431 TRMT11 tRNA methyltransferase 11 homolog gene DOID:9008939 Breast Neoplasms ISO RGD:1314969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12046454 RAB14 RAB14, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:737104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046467 STX18 syntaxin 18 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1320740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 12046467 STX18 syntaxin 18 gene DOID:630 genetic disease ISO RGD:1320740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046484 GTF2F1 general transcription factor IIF subunit 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1343690 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12046484 GTF2F1 general transcription factor IIF subunit 1 gene DOID:630 genetic disease ISO RGD:1343690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046522 DGKH diacylglycerol kinase eta gene DOID:630 genetic disease ISO RGD:1352279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046522 DGKH diacylglycerol kinase eta gene DOID:9002165 Diabetic Nephropathies ISO RGD:1352279 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:20665664 12046529 WNT10B Wnt family member 10B gene DOID:0090026 split hand-foot malformation 6 ISO RGD:1312744 D RGD:7240710 20180130 OMIM 12046529 WNT10B Wnt family member 10B gene DOID:0090026 split hand-foot malformation 6 ISO RGD:1312744 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 6 PMID:12072797|PMID:18515319|PMID:20635353|PMID:25741868|PMID:28492532 12046529 WNT10B Wnt family member 10B gene DOID:630 genetic disease ISO RGD:1312744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12046529 WNT10B Wnt family member 10B gene DOID:9001843 Selective Tooth Agenesis 8 ISO RGD:1312744 D RGD:7240710 20190315 OMIM 12046529 WNT10B Wnt family member 10B gene DOID:9001843 Selective Tooth Agenesis 8 ISO RGD:1312744 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 8 PMID:25741868|PMID:27321946|PMID:28492532 12046529 WNT10B Wnt family member 10B gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 12046529 WNT10B Wnt family member 10B gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1312744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 12046529 WNT10B Wnt family member 10B gene DOID:9008939 Breast Neoplasms ISO RGD:1312744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12437293 12046529 WNT10B Wnt family member 10B gene DOID:9970 obesity ISO RGD:1312744 D RGD:9068941 20200609 RGD DNA:SNP:CDS:amino acid C256Y, mutant unable to activate WNT/beta-catenin signaling pathway PMID:16477437|REF_RGD_ID:2300029 12046529 WNT10B Wnt family member 10B gene DOID:9970 obesity ISO RGD:1312745 D RGD:9068941 20200609 RGD PMID:17578883|REF_RGD_ID:2326237 12046573 TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 gene DOID:0112071 nuclear type mitochondrial complex I deficiency 31 ISO RGD:1351318 D RGD:7240710 20190315 OMIM 12046573 TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 gene DOID:0112071 nuclear type mitochondrial complex I deficiency 31 ISO RGD:1351318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 PMID:25741868|PMID:28492532|PMID:28604674|PMID:33278652|PMID:33586140|PMID:35091571 12046573 TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1351318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 12046573 TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 gene DOID:3652 Leigh disease ISO RGD:1351318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868 12046573 TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 gene DOID:630 genetic disease ISO RGD:1351318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12046584 LOC100967437 olfactory receptor 1B1 gene DOID:630 genetic disease ISO RGD:1342799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046588 GTSF1 gametocyte specific factor 1 gene DOID:630 genetic disease ISO RGD:1605883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046607 HARS1 histidyl-tRNA synthetase 1 gene DOID:0050439 Usher syndrome ISO RGD:1350214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome 12046607 HARS1 histidyl-tRNA synthetase 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1350214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:28492532|PMID:32333447 12046607 HARS1 histidyl-tRNA synthetase 1 gene DOID:0050952 spastic ataxia ISO RGD:1350214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532|PMID:32333447 12046607 HARS1 histidyl-tRNA synthetase 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1350214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12046607 HARS1 histidyl-tRNA synthetase 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12046607 HARS1 histidyl-tRNA synthetase 1 gene DOID:0110162 Charcot-Marie-Tooth disease, axonal type 2W ISO RGD:1350214 D RGD:7240710 20180130 OMIM 12046607 HARS1 histidyl-tRNA synthetase 1 gene DOID:0110162 Charcot-Marie-Tooth disease, axonal type 2W ISO RGD:1350214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2W | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2w PMID:22930593|PMID:25741868|PMID:26072516|PMID:26752306|PMID:27353947|PMID:28492532|PMID:29235198|PMID:29790872|PMID:32543048 12046607 HARS1 histidyl-tRNA synthetase 1 gene DOID:0110828 Usher syndrome type 3 ISO RGD:1350214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 3 PMID:28492532 12046607 HARS1 histidyl-tRNA synthetase 1 gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:1350214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome 12046607 HARS1 histidyl-tRNA synthetase 1 gene DOID:0110842 Usher syndrome type 3B ISO RGD:1350214 D RGD:7240710 20180130 OMIM 12046607 HARS1 histidyl-tRNA synthetase 1 gene DOID:0110842 Usher syndrome type 3B ISO RGD:1350214 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Usher syndrome type 3B PMID:16199547|PMID:17576681|PMID:22279524|PMID:22279824|PMID:22930593|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26072516|PMID:26752306|PMID:27353947|PMID:28492532|PMID:28632987|PMID:29235198|PMID:29790872|PMID:31028937|PMID:31211171|PMID:32333447|PMID:32543048|PMID:9536098 12046607 HARS1 histidyl-tRNA synthetase 1 gene DOID:4450 renal cell carcinoma ISO RGD:1350214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 12046607 HARS1 histidyl-tRNA synthetase 1 gene DOID:574 peripheral nervous system disease ISO RGD:1350214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532|PMID:32333447 12046607 HARS1 histidyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1350214 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22279524|PMID:22279824|PMID:22930593|PMID:24033266|PMID:25741868|PMID:27353947|PMID:28492532|PMID:28632987|PMID:29235198|PMID:29790872|PMID:31028937|PMID:32543048 12046607 HARS1 histidyl-tRNA synthetase 1 gene DOID:8501 fundus dystrophy ISO RGD:1350214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 12046607 HARS1 histidyl-tRNA synthetase 1 gene DOID:870 neuropathy ISO RGD:1350214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532|PMID:32333447 12046607 HARS1 histidyl-tRNA synthetase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12046607 HARS1 histidyl-tRNA synthetase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12046607 HARS1 histidyl-tRNA synthetase 1 gene DOID:9008305 Talipes Cavus ISO RGD:1350214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pes cavus 12046629 ACBD6 acyl-CoA binding domain containing 6 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1312817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 12046629 ACBD6 acyl-CoA binding domain containing 6 gene DOID:1059 intellectual disability ISO RGD:1312817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12046629 ACBD6 acyl-CoA binding domain containing 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1312817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12046629 ACBD6 acyl-CoA binding domain containing 6 gene DOID:630 genetic disease ISO RGD:1312817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12046629 ACBD6 acyl-CoA binding domain containing 6 gene DOID:9005344 Combined Pituitary Hormone Deficiency 1 ISO RGD:1312817 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 1 PMID:25741868 12046629 ACBD6 acyl-CoA binding domain containing 6 gene DOID:9005891 Combined Pituitary Hormone Deficiency, 6 ISO RGD:1312817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant PMID:28492532 12046629 ACBD6 acyl-CoA binding domain containing 6 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1312817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12046629 ACBD6 acyl-CoA binding domain containing 6 gene DOID:9008403 Combined Pituitary Hormone Deficiency 4 ISO RGD:1312817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined with or without cerebellar defects | ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica PMID:11567216|PMID:17201807|PMID:17527005|PMID:18073311|PMID:18445675|PMID:20534763|PMID:23990694|PMID:24033266|PMID:25741868|PMID:25910213|PMID:27820671|PMID:28492532 12046629 ACBD6 acyl-CoA binding domain containing 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12046641 FXYD4 FXYD domain containing ion transport regulator 4 gene DOID:630 genetic disease ISO RGD:735874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046660 PPP1R2 protein phosphatase 1 regulatory inhibitor subunit 2 gene DOID:630 genetic disease ISO RGD:1343622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046676 ZFAND2A zinc finger AN1-type containing 2A gene DOID:630 genetic disease ISO RGD:1604554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046685 TXNL1 thioredoxin like 1 gene DOID:630 genetic disease ISO RGD:1354026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046697 FAM86C1P family with sequence similarity 86 member C1 gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1602694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 12046697 FAM86C1P family with sequence similarity 86 member C1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1602694 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12046697 FAM86C1P family with sequence similarity 86 member C1 gene DOID:1059 intellectual disability ISO RGD:1602694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12046697 FAM86C1P family with sequence similarity 86 member C1 gene DOID:630 genetic disease ISO RGD:1602694 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046705 CSN1S1 casein alpha s1 gene DOID:630 genetic disease ISO RGD:1606842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046705 CSN1S1 casein alpha s1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1606842 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12046724 COL4A4 collagen type IV alpha 4 chain gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1313332 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:11134255|PMID:11685592|PMID:11961012|PMID:12028435|PMID:12631110|PMID:14871398|PMID:17216251|PMID:17396119|PMID:19129241|PMID:20029656|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:27884173|PMID:28059119|PMID:28492532|PMID:9792860 12046724 COL4A4 collagen type IV alpha 4 chain gene DOID:0080322 polycystic kidney disease ISO RGD:1313332 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:31922066 12046724 COL4A4 collagen type IV alpha 4 chain gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1313332 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:25741868|PMID:28492532 12046724 COL4A4 collagen type IV alpha 4 chain gene DOID:0110032 autosomal dominant Alport syndrome ISO RGD:1313332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar Annotator: match by term: Autosomal dominant Alport syndrome PMID:11961012|PMID:12631110|PMID:12748344|PMID:15618242|PMID:15954103|PMID:16199547|PMID:17216251|PMID:17576681|PMID:19129241|PMID:20301386|PMID:21196518|PMID:21897443|PMID:24033266|PMID:24052634|PMID:24633401|PMID:24854265|PMID:25307543|PMID:25525159|PMID:25596306|PMID:25741868|PMID:26467025|PMID:26809805|PMID:27859054|PMID:28492532|PMID:28632965|PMID:28844315|PMID:29801666|PMID:29854973|PMID:30745910|PMID:31312213|PMID:31934206|PMID:33369211|PMID:33532864|PMID:33772369|PMID:9536098|PMID:9792860 12046724 COL4A4 collagen type IV alpha 4 chain gene DOID:0110033 autosomal recessive Alport syndrome ISO RGD:1313332 D RGD:7240710 20180130 OMIM 12046724 COL4A4 collagen type IV alpha 4 chain gene DOID:0110033 autosomal recessive Alport syndrome ISO RGD:1313332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome PMID:11961012|PMID:12028435|PMID:12325029|PMID:12631110|PMID:12748344|PMID:14582039|PMID:15618242|PMID:15954103|PMID:16199547|PMID:16338941|PMID:17216251|PMID:17396119|PMID:17576681|PMID:19129241|PMID:19675380|PMID:20029656|PMID:20301386|PMID:21196518|PMID:21897443|PMID:22887978|PMID:23349334|PMID:23967202|PMID:24033266|PMID:24033287|PMID:24052634|PMID:24472419|PMID:24522496|PMID:24633401|PMID:24854265|PMID:25229338|PMID:25307543|PMID:25381091|PMID:25514610|PMID:25525159|PMID:25596306|PMID:25741868|PMID:25755845|PMID:26467025|PMID:26628290|PMID:26809805|PMID:26934356|PMID:27281700|PMID:27469977|PMID:27859054|PMID:28117080|PMID:28476686|PMID:28492532|PMID:28542346|PMID:28632965|PMID:28844315|PMID:28968992|PMID:29098738|PMID:29204651|PMID:29496980|PMID:29801666|PMID:29854973|PMID:29873249|PMID:30406062|PMID:30647093|PMID:30745910|PMID:30883042|PMID:30968591|PMID:31049720|PMID:31312213|PMID:31408864|PMID:31677115|PMID:31922066|PMID:32332277|PMID:32703181|PMID:32723786|PMID:32939031|PMID:33048202|PMID:33369211|PMID:33532864|PMID:33772369|PMID:33838161|PMID:33854215|PMID:34584596|PMID:34625929|PMID:34746741|PMID:35369551|PMID:7987396|PMID:8787673|PMID:9195222|PMID:9536098|PMID:9792860 12046724 COL4A4 collagen type IV alpha 4 chain gene DOID:0110034 X-linked Alport syndrome ISO RGD:1313332 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: X-linked Alport syndrome PMID:12028435|PMID:17396119|PMID:19129241|PMID:19675380|PMID:20029656|PMID:24033266|PMID:25514610|PMID:25741868|PMID:25755845|PMID:26467025|PMID:28492532 12046724 COL4A4 collagen type IV alpha 4 chain gene DOID:0110588 autosomal dominant nonsyndromic deafness 67 ISO RGD:1313332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 67 PMID:25741868 12046724 COL4A4 collagen type IV alpha 4 chain gene DOID:0111365 benign familial hematuria ISO RGD:1313332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Benign familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria | ClinVar Annotator: match by term: Thin basement membrane nephropathy PMID:11961012|PMID:12325029|PMID:12631110|PMID:14582039|PMID:16199547|PMID:16338941|PMID:17216251|PMID:17396119|PMID:17576681|PMID:21196518|PMID:24033266|PMID:24033287|PMID:24052634|PMID:24854265|PMID:25307543|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:28476686|PMID:28492532|PMID:28632965|PMID:28844315|PMID:29496980|PMID:29801666|PMID:29854973|PMID:30295827|PMID:30968591|PMID:31686460|PMID:31934206|PMID:32332277|PMID:32703181|PMID:32939031|PMID:33048202|PMID:33369211|PMID:33532864|PMID:33772369|PMID:33838161|PMID:34584596|PMID:8787673|PMID:9536098|PMID:9792860 12046724 COL4A4 collagen type IV alpha 4 chain gene DOID:10983 Alport syndrome ISO RGD:1313332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria | ClinVar Annotator: match by term: Disease of glomerular basement membrane PMID:11134255|PMID:11685592|PMID:11961012|PMID:12028435|PMID:12325029|PMID:12631110|PMID:14582039|PMID:14871398|PMID:15618242|PMID:15880327|PMID:16199547|PMID:1721625|PMID:17216251|PMID:17396119|PMID:17576681|PMID:19129241|PMID:19675380|PMID:20029656|PMID:21196518|PMID:22887978|PMID:23349334|PMID:23967202|PMID:24033266|PMID:24033287|PMID:24052634|PMID:24130771|PMID:24472419|PMID:24522496|PMID:24854265|PMID:25229338|PMID:25307543|PMID:25381091|PMID:25514610|PMID:25575550|PMID:25741868|PMID:25755845|PMID:26467025|PMID:26809805|PMID:26934356|PMID:27281700|PMID:27365461|PMID:27884173|PMID:28059119|PMID:28476686|PMID:28492532|PMID:28632965|PMID:28780565|PMID:28844315|PMID:28968992|PMID:29098738|PMID:29496980|PMID:29924831|PMID:30406062|PMID:30647093|PMID:30745910|PMID:30968591|PMID:31049720|PMID:31408864|PMID:31922066|PMID:32332277|PMID:32703181|PMID:32939031|PMID:33048202|PMID:33532864|PMID:33772369|PMID:33838161|PMID:34584596|PMID:9536098|PMID:9792860 12046724 COL4A4 collagen type IV alpha 4 chain gene DOID:1184 nephrotic syndrome ISO RGD:1313332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:21196518|PMID:24854265|PMID:25307543|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33532864 12046724 COL4A4 collagen type IV alpha 4 chain gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1313332 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:12028435|PMID:15618242|PMID:17396119|PMID:19129241|PMID:20029656|PMID:21196518|PMID:24033266|PMID:24052634|PMID:24522496|PMID:24854265|PMID:25307543|PMID:25514610|PMID:25741868|PMID:26467025|PMID:26809805|PMID:27281700|PMID:28492532|PMID:31049720|PMID:31922066 12046724 COL4A4 collagen type IV alpha 4 chain gene DOID:2921 glomerulonephritis ISO RGD:1313332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Glomerulonephritis PMID:12325029|PMID:17216251|PMID:21196518|PMID:24052634|PMID:24854265|PMID:25307543|PMID:25741868|PMID:28492532 12046724 COL4A4 collagen type IV alpha 4 chain gene DOID:557 kidney disease ISO RGD:1313332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:14582039|PMID:1721625|PMID:17216251|PMID:17396119|PMID:22887978|PMID:24033266|PMID:25381091|PMID:25741868|PMID:26467025|PMID:27365461|PMID:28476686|PMID:28492532|PMID:29924831|PMID:30968591|PMID:32332277|PMID:32703181|PMID:33772369|PMID:9792860 12046724 COL4A4 collagen type IV alpha 4 chain gene DOID:630 genetic disease ISO RGD:1313332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 12046724 COL4A4 collagen type IV alpha 4 chain gene DOID:783 end stage renal disease ISO RGD:1313332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stage 5 chronic kidney disease PMID:24033266|PMID:25741868|PMID:28492532 12046724 COL4A4 collagen type IV alpha 4 chain gene DOID:784 chronic kidney disease ISO RGD:1313332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:12325029|PMID:21196518|PMID:24052634|PMID:24854265|PMID:25307543|PMID:25741868|PMID:28492532|PMID:32723786 12046724 COL4A4 collagen type IV alpha 4 chain gene DOID:9000363 Hematuria ISO RGD:1313332 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hematuria PMID:24052634|PMID:24854265|PMID:25741868|PMID:26809805|PMID:28492532|PMID:28844315|PMID:33772369 12046724 COL4A4 collagen type IV alpha 4 chain gene DOID:9004538 Hearing Loss ISO RGD:1313332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:17396119|PMID:24033287|PMID:24854265|PMID:25741868|PMID:26934356|PMID:28492532|PMID:28632965|PMID:29496980|PMID:30311386|PMID:33048202|PMID:33532864|PMID:33838161|PMID:34584596 12046724 COL4A4 collagen type IV alpha 4 chain gene DOID:9006352 Benign Familial Hematuria 1 ISO RGD:1313332 D RGD:7240710 20230505 OMIM 12046724 COL4A4 collagen type IV alpha 4 chain gene DOID:9006352 Benign Familial Hematuria 1 ISO RGD:1313332 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: HEMATURIA, BENIGN FAMILIAL, 1 PMID:12325029|PMID:12631110|PMID:14582039|PMID:17396119|PMID:21196518|PMID:24033266|PMID:24052634|PMID:24854265|PMID:25307543|PMID:25741868|PMID:26467025|PMID:28476686|PMID:28492532|PMID:30968591|PMID:32332277|PMID:32703181|PMID:9792860 12046724 COL4A4 collagen type IV alpha 4 chain gene DOID:9008897 Diffuse Mesangial Sclerosis ISO RGD:1313332 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Diffuse mesangial sclerosis PMID:25514610|PMID:25741868|PMID:28632965 12046776 LSM10 LSM10, U7 small nuclear RNA associated gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1350873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12046776 LSM10 LSM10, U7 small nuclear RNA associated gene DOID:0111406 Fraser syndrome 3 ISO RGD:1350873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 12046776 LSM10 LSM10, U7 small nuclear RNA associated gene DOID:630 genetic disease ISO RGD:1350873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046782 COQ10A coenzyme Q10A gene DOID:630 genetic disease ISO RGD:1602309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046782 COQ10A coenzyme Q10A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12046797 BEST4 bestrophin 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12046797 BEST4 bestrophin 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1344321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12046797 BEST4 bestrophin 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12046797 BEST4 bestrophin 4 gene DOID:630 genetic disease ISO RGD:1344321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046808 LMF1 lipase maturation factor 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1348602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12046808 LMF1 lipase maturation factor 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1348602 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12046808 LMF1 lipase maturation factor 1 gene DOID:0111422 familial lipase maturation factor 1 deficiency ISO RGD:1348602 D RGD:7240710 20180130 OMIM 12046808 LMF1 lipase maturation factor 1 gene DOID:0111422 familial lipase maturation factor 1 deficiency ISO RGD:1348602 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Lipase deficiency, combined PMID:17994020|PMID:19820022|PMID:22239554|PMID:25741868|PMID:28492532|PMID:30037590|PMID:30337590|PMID:31980526|PMID:32041611|PMID:33303402 12046808 LMF1 lipase maturation factor 1 gene DOID:1826 epilepsy ISO RGD:1348602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12046808 LMF1 lipase maturation factor 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1348602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12046808 LMF1 lipase maturation factor 1 gene DOID:630 genetic disease ISO RGD:1348602 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29214790|PMID:30037590|PMID:30420299|PMID:32115487|PMID:32190547|PMID:36613909 12046808 LMF1 lipase maturation factor 1 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1348602 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17994020 12046820 FNDC3A fibronectin type III domain containing 3A gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1354235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12046820 FNDC3A fibronectin type III domain containing 3A gene DOID:1059 intellectual disability ISO RGD:1354235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12046820 FNDC3A fibronectin type III domain containing 3A gene DOID:630 genetic disease ISO RGD:1354235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046866 PTPRR protein tyrosine phosphatase receptor type R gene DOID:630 genetic disease ISO RGD:1348456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046884 RILPL2 Rab interacting lysosomal protein like 2 gene DOID:630 genetic disease ISO RGD:1606943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046895 GNB1 G protein subunit beta 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:732785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12046895 GNB1 G protein subunit beta 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:732785 D RGD:7240710 20201223 OMIM 12046895 GNB1 G protein subunit beta 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 12046895 GNB1 G protein subunit beta 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732785 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:25741868|PMID:27108799|PMID:27759915|PMID:28492532|PMID:30504930|PMID:9596582 12046895 GNB1 G protein subunit beta 1 gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:732785 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability PMID:25741868 12046895 GNB1 G protein subunit beta 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:732785 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12046895 GNB1 G protein subunit beta 1 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12046895 GNB1 G protein subunit beta 1 gene DOID:0070072 autosomal dominant intellectual developmental disorder 42 ISO RGD:732785 D RGD:7240710 20190315 OMIM 12046895 GNB1 G protein subunit beta 1 gene DOID:0070072 autosomal dominant intellectual developmental disorder 42 ISO RGD:732785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 42 PMID:19344873|PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27668284|PMID:27759915|PMID:28087732|PMID:28492532|PMID:29174093|PMID:29694806|PMID:30194818|PMID:30504930|PMID:31034681|PMID:31735425|PMID:31785789|PMID:32134617|PMID:32581362|PMID:32918542|PMID:32963807|PMID:9596582 12046895 GNB1 G protein subunit beta 1 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12046895 GNB1 G protein subunit beta 1 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12046895 GNB1 G protein subunit beta 1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:732785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12046895 GNB1 G protein subunit beta 1 gene DOID:0111934 immunodeficiency 38 ISO RGD:732785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12046895 GNB1 G protein subunit beta 1 gene DOID:0111935 immunodeficiency 16 ISO RGD:732785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12046895 GNB1 G protein subunit beta 1 gene DOID:1059 intellectual disability ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27759915|PMID:28492532|PMID:29174093|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 12046895 GNB1 G protein subunit beta 1 gene DOID:1059 intellectual disability ISO RGD:732785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27759915|PMID:28087732|PMID:28492532|PMID:29174093|PMID:29694806|PMID:30194818|PMID:31735425|PMID:31785789|PMID:32134617|PMID:32918542|PMID:32963807|PMID:9596582 12046895 GNB1 G protein subunit beta 1 gene DOID:10907 microcephaly ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:27108799|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617 12046895 GNB1 G protein subunit beta 1 gene DOID:1459 hypothyroidism ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 12046895 GNB1 G protein subunit beta 1 gene DOID:1596 depressive disorder ISO RGD:732785 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22113448 12046895 GNB1 G protein subunit beta 1 gene DOID:1826 epilepsy ISO RGD:732785 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27759915|PMID:28492532|PMID:30194818|PMID:30504930|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 12046895 GNB1 G protein subunit beta 1 gene DOID:1826 epilepsy ISO RGD:732785 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27759915|PMID:28087732|PMID:28492532|PMID:29694806|PMID:30194818|PMID:30504930|PMID:31735425|PMID:32134617|PMID:32918542|PMID:32963807|PMID:9596582 12046895 GNB1 G protein subunit beta 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12046895 GNB1 G protein subunit beta 1 gene DOID:1969 cerebral palsy ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 12046895 GNB1 G protein subunit beta 1 gene DOID:2030 anxiety disorder ISO RGD:732785 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22113448 12046895 GNB1 G protein subunit beta 1 gene DOID:2234 focal epilepsy ISO RGD:732785 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal seizures with impairment of consciousness or awareness PMID:25485910|PMID:25741868|PMID:27108799|PMID:30194818|PMID:32134617 12046895 GNB1 G protein subunit beta 1 gene DOID:540 strabismus ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Strabismus PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 12046895 GNB1 G protein subunit beta 1 gene DOID:543 dystonia ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31034681|PMID:31735425|PMID:32134617|PMID:32581362|PMID:32963807|PMID:9596582 12046895 GNB1 G protein subunit beta 1 gene DOID:6000 congestive heart failure disease_progression ISO RGD:732785 D RGD:9068941 20221027 RGD DNA:mutations: : PMID:33779075|REF_RGD_ID:155630627 12046895 GNB1 G protein subunit beta 1 gene DOID:630 genetic disease ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19344873|PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27668284|PMID:27759915|PMID:28087732|PMID:28492532|PMID:29174093|PMID:30194818|PMID:30504930|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 12046895 GNB1 G protein subunit beta 1 gene DOID:674 cleft palate ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 12046895 GNB1 G protein subunit beta 1 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:732785 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:25741868|PMID:27108799|PMID:28087732|PMID:29694806|PMID:30194818|PMID:32134617|PMID:32918542 12046895 GNB1 G protein subunit beta 1 gene DOID:9001276 Failure to Thrive ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 12046895 GNB1 G protein subunit beta 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 12046895 GNB1 G protein subunit beta 1 gene DOID:9005466 Language Development Disorders ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Expressive language delay PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 12046895 GNB1 G protein subunit beta 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:732785 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27759915|PMID:28087732|PMID:28492532|PMID:29694806|PMID:30194818|PMID:30504930|PMID:31735425|PMID:32134617|PMID:32918542|PMID:32963807|PMID:9596582 12046895 GNB1 G protein subunit beta 1 gene DOID:9006257 Growth Disorders ISO RGD:732785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth Retardation PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 12046895 GNB1 G protein subunit beta 1 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12046895 GNB1 G protein subunit beta 1 gene DOID:9008086 Developmental Disabilities ISO RGD:732785 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27759915|PMID:28087732|PMID:28492532|PMID:29694806|PMID:30194818|PMID:30504930|PMID:31735425|PMID:32134617|PMID:32918542|PMID:32963807|PMID:9596582 12046895 GNB1 G protein subunit beta 1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:732785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12046895 GNB1 G protein subunit beta 1 gene DOID:9650 pathologic nystagmus ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 12046895 GNB1 G protein subunit beta 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:732785 D RGD:7240710 20230505 OMIM 12046895 GNB1 G protein subunit beta 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute lymphoblastic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Lymphoblastic leukemia PMID:25485910|PMID:25741868|PMID:27108799|PMID:28492532|PMID:32134617 12046926 CMYA5 cardiomyopathy associated 5 gene DOID:630 genetic disease ISO RGD:1321357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046926 CMYA5 cardiomyopathy associated 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12046945 MRPL19 mitochondrial ribosomal protein L19 gene DOID:630 genetic disease ISO RGD:1349255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046945 MRPL19 mitochondrial ribosomal protein L19 gene DOID:9008939 Breast Neoplasms ISO RGD:1349255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 12046955 CMBL carboxymethylenebutenolidase homolog gene DOID:630 genetic disease ISO RGD:1606460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046982 AKT1S1 AKT1 substrate 1 gene DOID:630 genetic disease ISO RGD:1323832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12046982 AKT1S1 AKT1 substrate 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1323832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17457363 12046982 AKT1S1 AKT1 substrate 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1323832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16397181 12047000 SETD7 SET domain containing 7, histone lysine methyltransferase gene DOID:13619 extrahepatic cholestasis treatment ISO RGD:1586346 D RGD:9068941 20200609 RGD PMID:24097032|REF_RGD_ID:9491846 12047000 SETD7 SET domain containing 7, histone lysine methyltransferase gene DOID:1561 cognitive disorder ISO RGD:1606498 D RGD:9068941 20220811 CTD CTD Direct Evidence: therapeutic PMID:35187972 12047000 SETD7 SET domain containing 7, histone lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1606498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047017 OTOG otogelin gene DOID:0050563 nonsyndromic deafness ISO RGD:1315323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:24033266 12047017 OTOG otogelin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1315323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness PMID:30303587 12047017 OTOG otogelin gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1315323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12047017 OTOG otogelin gene DOID:0110474 autosomal recessive nonsyndromic deafness 18B ISO RGD:1315323 D RGD:7240710 20180130 OMIM 12047017 OTOG otogelin gene DOID:0110474 autosomal recessive nonsyndromic deafness 18B ISO RGD:1315323 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 18b PMID:10655058|PMID:16199547|PMID:17576681|PMID:23122587|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28050010|PMID:28492532|PMID:29196752|PMID:29907799|PMID:30139988|PMID:30311386|PMID:31152317|PMID:31645975|PMID:31827275|PMID:32048449|PMID:33223529|PMID:35802133|PMID:36633841|PMID:9536098 12047017 OTOG otogelin gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1315323 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 12047017 OTOG otogelin gene DOID:1059 intellectual disability ISO RGD:1315323 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10655058|PMID:23122587|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29907799 12047017 OTOG otogelin gene DOID:1826 epilepsy ISO RGD:1315323 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizure PMID:10655058|PMID:23122587|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29907799 12047017 OTOG otogelin gene DOID:9004538 Hearing Loss ISO RGD:1315323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss PMID:24033266|PMID:28492532|PMID:30311386|PMID:32048449 12047017 OTOG otogelin gene DOID:9008681 Deafness ISO RGD:1315323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 12047017 OTOG otogelin gene DOID:9849 Meniere's disease ISO RGD:1315323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:17576681|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28945198|PMID:9536098 12047084 CASR calcium sensing receptor gene DOID:0050450 Gitelman syndrome ISO RGD:10291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia 12047084 CASR calcium sensing receptor gene DOID:0050700 cardiomyopathy ISO RGD:2277 D RGD:9068941 20200609 RGD associated with Uremia PMID:19188910|REF_RGD_ID:7205661 12047084 CASR calcium sensing receptor gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:10291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial benign hypercalcemia | ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis PMID:10023897|PMID:10077597|PMID:10217111|PMID:10468915|PMID:10488104|PMID:10770217|PMID:10843194|PMID:10885494|PMID:10912749|PMID:10912782|PMID:10971459|PMID:11013439|PMID:11102444|PMID:11136551|PMID:11161843|PMID:11248745|PMID:11580999|PMID:11668634|PMID:11701698|PMID:11733622|PMID:11762699|PMID:11763315|PMID:11807402|PMID:11889154|PMID:11889203|PMID:12018449|PMID:12040821|PMID:12052452|PMID:12067826|PMID:12095982|PMID:12114500|PMID:12162500|PMID:12239240|PMID:12574188|PMID:12574201|PMID:12580936|PMID:12733714|PMID:12890593|PMID:1302026|PMID:14089114|PMID:14508624|PMID:14519094|PMID:14602739|PMID:14714270|PMID:14985373|PMID:14997007|PMID:15241688|PMID:15292296|PMID:15531522|PMID:15551332|PMID:15572418|PMID:15591042|PMID:15598778|PMID:15699544|PMID:15751724|PMID:15864123|PMID:15879434|PMID:15963484|PMID:16128246|PMID:16199547|PMID:16491288|PMID:16497624|PMID:16598859|PMID:16642557|PMID:16649980|PMID:16740594|PMID:16918956|PMID:17018660|PMID:17039419|PMID:1706284|PMID:17117288|PMID:17121537|PMID:17284438|PMID:17309124|PMID:17320849|PMID:17332735|PMID:17473068|PMID:17478419|PMID:17555508|PMID:17576681|PMID:17698911|PMID:17803689|PMID:17974727|PMID:17979873|PMID:18219222|PMID:18296474|PMID:18328986|PMID:18410554|PMID:18680227|PMID:18751724|PMID:18756473|PMID:18796518|PMID:18830196|PMID:18887540|PMID:1889203|PMID:18938753|PMID:19073830|PMID:19102677|PMID:19179454|PMID:19389809|PMID:19423559|PMID:19549694|PMID:19694204|PMID:19759318|PMID:19763152|PMID:19779033|PMID:19789209|PMID:19953642|PMID:20034274|PMID:20119591|PMID:20164288|PMID:20307669|PMID:20335782|PMID:20335783|PMID:20374733|PMID:20495831|PMID:20501971|PMID:20602573|PMID:20668040|PMID:20798521|PMID:20972686|PMID:21135065|PMID:21175100|PMID:21185797|PMID:21239511|PMID:21289269|PMID:21369680|PMID:21414629|PMID:21441391|PMID:21471599|PMID:21521328|PMID:21645025|PMID:21844754|PMID:22024717|PMID:22142470|PMID:22187299|PMID:22192860|PMID:22232026|PMID:22331334|PMID:22406018|PMID:22422767|PMID:22620673|PMID:22789683|PMID:22798347|PMID:23077345|PMID:23081733|PMID:23169696|PMID:23186954|PMID:23265383|PMID:23372019|PMID:23764372|PMID:23856262|PMID:23966241|PMID:24033266|PMID:24133354|PMID:24203066|PMID:24244430|PMID:24297799|PMID:24394414|PMID:24517148|PMID:24735972|PMID:2476381|PMID:24763815|PMID:24823460|PMID:24854525|PMID:24947037|PMID:24948345|PMID:25045523|PMID:25091521|PMID:25104082|PMID:25137426|PMID:25292184|PMID:25320261|PMID:25420019|PMID:25701758|PMID:25705702|PMID:25741868|PMID:25765207|PMID:25766501|PMID:25792032|PMID:25828954|PMID:25977473|PMID:26107257|PMID:26161261|PMID:26166472|PMID:26290606|PMID:26323216|PMID:26467025|PMID:26646938|PMID:26855056|PMID:26963950|PMID:27086061|PMID:27157104|PMID:27390877|PMID:27418061|PMID:27434672|PMID:27666534|PMID:27739473|PMID:27957351|PMID:28176280|PMID:28492532|PMID:28870973|PMID:29026550|PMID:29354167|PMID:29375828|PMID:2983592|PMID:29846619|PMID:29848507|PMID:30019023|PMID:30052933|PMID:30306783|PMID:30407919|PMID:30895164|PMID:31063613|PMID:31189130|PMID:31433865|PMID:31433868|PMID:31672324|PMID:3169696|PMID:31883284|PMID:31967040|PMID:32160303|PMID:32347971|PMID:32386559|PMID:32430905|PMID:32638038|PMID:32761341|PMID:32871939|PMID:32892159|PMID:33094630|PMID:33147586|PMID:33258288|PMID:33434173|PMID:34008892|PMID:34024353|PMID:34088669|PMID:34160437|PMID:34887979|PMID:35733207|PMID:3966479|PMID:6543841|PMID:7054696|PMID:7717399|PMID:7726161|PMID:7791841|PMID:7874174|PMID:791660|PMID:7916660|PMID:8132750|PMID:8636323|PMID:8675635|PMID:8698326|PMID:8702647|PMID:8733126|PMID:8813042|PMID:8878438|PMID:9011580|PMID:9039332|PMID:9109436|PMID:9179454|PMID:9217223|PMID:9253359|PMID:9395465|PMID:9422777|PMID:9507434|PMID:9536098|PMID:9661634 12047084 CASR calcium sensing receptor gene DOID:0060700 familial hypocalciuric hypercalcemia 1 ISO RGD:10291 D RGD:7240710 20230505 OMIM 12047084 CASR calcium sensing receptor gene DOID:0060700 familial hypocalciuric hypercalcemia 1 ISO RGD:10291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 1 | ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1 PMID:10023897|PMID:10077597|PMID:10217111|PMID:10468915|PMID:10770217|PMID:10843194|PMID:10885494|PMID:10912749|PMID:10912782|PMID:10971459|PMID:11013439|PMID:11102444|PMID:11134112|PMID:11136551|PMID:11161843|PMID:11231970|PMID:11248745|PMID:11580999|PMID:11668634|PMID:11701698|PMID:11733622|PMID:11762699|PMID:11763315|PMID:11807402|PMID:11889203|PMID:12018449|PMID:12040821|PMID:12052452|PMID:12067826|PMID:12095982|PMID:12107202|PMID:12114500|PMID:12191970|PMID:12239240|PMID:12469911|PMID:12574201|PMID:12580936|PMID:12733714|PMID:12890593|PMID:1302026|PMID:14089114|PMID:14508624|PMID:14985373|PMID:14997007|PMID:15292296|PMID:15531522|PMID:15572418|PMID:15579740|PMID:15591042|PMID:15598778|PMID:15699544|PMID:15751724|PMID:15864123|PMID:15879434|PMID:16199547|PMID:16491288|PMID:16497624|PMID:16598859|PMID:16642557|PMID:16740594|PMID:17018660|PMID:1706284|PMID:17117288|PMID:17284438|PMID:17309124|PMID:17320849|PMID:17332735|PMID:17473068|PMID:17478419|PMID:17555508|PMID:17698911|PMID:17803689|PMID:17974727|PMID:18328986|PMID:18680227|PMID:18751724|PMID:18756473|PMID:18796518|PMID:18830196|PMID:18887540|PMID:1889203|PMID:18938753|PMID:19102677|PMID:19179454|PMID:19389809|PMID:19423559|PMID:19694204|PMID:19759318|PMID:19779033|PMID:20119591|PMID:20164288|PMID:20290361|PMID:20602573|PMID:20668040|PMID:20798521|PMID:20972686|PMID:21239511|PMID:21289269|PMID:21369680|PMID:21414629|PMID:21521328|PMID:21645025|PMID:22024717|PMID:2211966|PMID:22142470|PMID:22192860|PMID:22232026|PMID:22331334|PMID:22422767|PMID:22789683|PMID:22798347|PMID:23077345|PMID:23169696|PMID:23372019|PMID:23966241|PMID:24033266|PMID:24133354|PMID:24203066|PMID:24297799|PMID:24735972|PMID:24947037|PMID:25091521|PMID:25104082|PMID:25137426|PMID:25292184|PMID:25420019|PMID:25701758|PMID:25705702|PMID:25741868|PMID:25792032|PMID:25828954|PMID:26107257|PMID:26161261|PMID:26166472|PMID:26467025|PMID:26646938|PMID:26855056|PMID:26963950|PMID:27086061|PMID:27157104|PMID:27434672|PMID:27666534|PMID:27739473|PMID:27957351|PMID:28176280|PMID:28492532|PMID:29026550|PMID:29846619|PMID:29848507|PMID:30407919|PMID:30895164|PMID:31433868|PMID:31672324|PMID:32347971|PMID:32386559|PMID:32638038|PMID:32761341|PMID:33258288|PMID:34008892|PMID:34024353|PMID:34088669|PMID:3966479|PMID:5013415|PMID:6543841|PMID:7054696|PMID:7673400|PMID:7717399|PMID:7726161|PMID:7791841|PMID:7874174|PMID:791660|PMID:7916660|PMID:8132750|PMID:8636323|PMID:8675635|PMID:8702647|PMID:8733126|PMID:8878438|PMID:9011580|PMID:9109436|PMID:9422777 12047084 CASR calcium sensing receptor gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:10291 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R990G (rs1042636)(human) PMID:17018660|REF_RGD_ID:13464331 12047084 CASR calcium sensing receptor gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:10291 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.A986S, p.E1011Q (human) PMID:20602573|REF_RGD_ID:7205445 12047084 CASR calcium sensing receptor gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:10291 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS4+11988A>G rs17251221 (human) PMID:21966463|REF_RGD_ID:7205446 12047084 CASR calcium sensing receptor gene DOID:0080652 calcium oxalate nephrolithiasis susceptibility ISO RGD:10291 D RGD:9068941 20200609 RGD associated with Hyperparathyroidism, Primary; DNA:snp:intron:IVS1 G>A rs1501899 (human) PMID:21183554|REF_RGD_ID:7205447 12047084 CASR calcium sensing receptor gene DOID:0090107 autosomal dominant hypocalcemia 1 ISO RGD:10291 D RGD:7240710 20230505 OMIM 12047084 CASR calcium sensing receptor gene DOID:0090107 autosomal dominant hypocalcemia 1 ISO RGD:10291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 1 | ClinVar Annotator: match by term: HYPOCALCEMIA, FAMILIAL PMID:10023897|PMID:10077597|PMID:10217111|PMID:10487661|PMID:10770217|PMID:10912749|PMID:10912782|PMID:11102444|PMID:11134112|PMID:11136551|PMID:11152759|PMID:11161843|PMID:11248745|PMID:11580999|PMID:11701698|PMID:11733622|PMID:11807402|PMID:11889203|PMID:12018449|PMID:12040821|PMID:12050233|PMID:12052452|PMID:12067826|PMID:12095982|PMID:12107202|PMID:12114500|PMID:12191970|PMID:12239240|PMID:12241879|PMID:12574188|PMID:12574201|PMID:12733714|PMID:12915654|PMID:14508624|PMID:14519094|PMID:14985373|PMID:14997007|PMID:15531522|PMID:15598778|PMID:15864123|PMID:15879434|PMID:16128246|PMID:16497624|PMID:16608894|PMID:17018660|PMID:17039419|PMID:1706284|PMID:17117288|PMID:17284438|PMID:17309124|PMID:17320849|PMID:17332735|PMID:17555508|PMID:17576681|PMID:17698911|PMID:18328986|PMID:18680227|PMID:18756473|PMID:19179454|PMID:19389809|PMID:19694204|PMID:19779033|PMID:20119591|PMID:20164288|PMID:20501971|PMID:20602573|PMID:20668040|PMID:21239511|PMID:21414629|PMID:21441391|PMID:21521328|PMID:21645025|PMID:22024717|PMID:22192860|PMID:22422767|PMID:22789683|PMID:22798347|PMID:23077345|PMID:23186954|PMID:23372019|PMID:24033266|PMID:24133354|PMID:24297799|PMID:24823460|PMID:24948345|PMID:25137426|PMID:25292184|PMID:25326635|PMID:25420019|PMID:25705702|PMID:25741868|PMID:26107257|PMID:26166472|PMID:26323216|PMID:26467025|PMID:26646938|PMID:27157104|PMID:27390877|PMID:27957351|PMID:28492532|PMID:29846619|PMID:30895164|PMID:31672324|PMID:31883284|PMID:34008892|PMID:7874174|PMID:7916660|PMID:8636323|PMID:8675635|PMID:8698326|PMID:8702647|PMID:8733126|PMID:8813042|PMID:8878438|PMID:9253358|PMID:9422777|PMID:9536098|PMID:9661634|PMID:9920108 12047084 CASR calcium sensing receptor gene DOID:0090109 autosomal dominant hypocalcemia ISO RGD:10291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant hypocalcemia PMID:11136551|PMID:11701698|PMID:12067826|PMID:12574188|PMID:12733714|PMID:14519094|PMID:17039419|PMID:19179454|PMID:20119591|PMID:20668040|PMID:21645025|PMID:22422767|PMID:22789683|PMID:24133354|PMID:24297799|PMID:24823460|PMID:24948345|PMID:25137426|PMID:25420019|PMID:25741868|PMID:26467025|PMID:28492532 12047084 CASR calcium sensing receptor gene DOID:0111322 idiopathic generalized epilepsy 8 ISO RGD:10291 D RGD:7240710 20230505 OMIM 12047084 CASR calcium sensing receptor gene DOID:0111322 idiopathic generalized epilepsy 8 ISO RGD:10291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 8 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 8 PMID:11807402|PMID:12107202|PMID:12191970|PMID:15879434|PMID:16598859|PMID:17284438|PMID:17698911|PMID:18756473|PMID:19389809|PMID:19779033|PMID:20164288|PMID:20798521|PMID:21414629|PMID:21521328|PMID:22192860|PMID:22422767|PMID:22798347|PMID:23372019|PMID:24133354|PMID:25741868|PMID:26467025|PMID:26963950|PMID:27957351|PMID:28492532|PMID:29026550|PMID:29846619|PMID:30407919|PMID:31672324|PMID:32347971|PMID:8675635|PMID:8878438 12047084 CASR calcium sensing receptor gene DOID:0111387 familial isolated hypoparathyroidism ISO RGD:10291 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Familial isolated hypoparathyroidism PMID:10023897|PMID:10217111|PMID:10912749|PMID:11161843|PMID:11248745|PMID:11580999|PMID:11733622|PMID:11807402|PMID:12018449|PMID:12040821|PMID:12052452|PMID:12239240|PMID:12574201|PMID:14508624|PMID:14997007|PMID:15531522|PMID:15598778|PMID:15864123|PMID:15879434|PMID:16497624|PMID:17018660|PMID:1706284|PMID:17117288|PMID:17309124|PMID:17320849|PMID:17332735|PMID:17555508|PMID:17698911|PMID:18328986|PMID:18680227|PMID:18756473|PMID:19694204|PMID:20164288|PMID:20602573|PMID:21414629|PMID:21521328|PMID:21645025|PMID:22024717|PMID:22192860|PMID:22422767|PMID:24033266|PMID:24133354|PMID:25292184|PMID:25705702|PMID:25741868|PMID:26107257|PMID:26166472|PMID:26467025|PMID:26646938|PMID:27157104|PMID:27957351|PMID:28492532|PMID:29846619|PMID:30895164|PMID:8636323 12047084 CASR calcium sensing receptor gene DOID:10283 prostate cancer ISO RGD:10291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 12047084 CASR calcium sensing receptor gene DOID:1059 intellectual disability ISO RGD:10291 D RGD:9068941 20200609 RGD associated with Hypocalciuric Hypercalcemia, Familial, Type 1; DNA:deletion:exon:c.1952_1966del (human) PMID:21667241|REF_RGD_ID:7205468 12047084 CASR calcium sensing receptor gene DOID:10609 rickets ISO RGD:1553551 D RGD:9068941 20200609 RGD PMID:12671052|REF_RGD_ID:734698 12047084 CASR calcium sensing receptor gene DOID:11199 hypoparathyroidism ISO RGD:10291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11701698 12047084 CASR calcium sensing receptor gene DOID:11202 primary hyperparathyroidism ISO RGD:10291 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Familial benign hypercalcemia PMID:10023897|PMID:10217111|PMID:10912749|PMID:11161843|PMID:11248745|PMID:11580999|PMID:11733622|PMID:11807402|PMID:12018449|PMID:12040821|PMID:12052452|PMID:12239240|PMID:12574201|PMID:14508624|PMID:14997007|PMID:15531522|PMID:15598778|PMID:15864123|PMID:15879434|PMID:16497624|PMID:17018660|PMID:1706284|PMID:17117288|PMID:17284438|PMID:17309124|PMID:17320849|PMID:17332735|PMID:17555508|PMID:17698911|PMID:18328986|PMID:18680227|PMID:18756473|PMID:19179454|PMID:19389809|PMID:19694204|PMID:19779033|PMID:20164288|PMID:20602573|PMID:21414629|PMID:21521328|PMID:21645025|PMID:22024717|PMID:22192860|PMID:22422767|PMID:22798347|PMID:23372019|PMID:24033266|PMID:24133354|PMID:25292184|PMID:25705702|PMID:25741868|PMID:26107257|PMID:26166472|PMID:26467025|PMID:26646938|PMID:27157104|PMID:27957351|PMID:28492532|PMID:29846619|PMID:30895164|PMID:8636323|PMID:8675635|PMID:8878438 12047084 CASR calcium sensing receptor gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:10291 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17284438|PMID:19389809|PMID:19779033|PMID:22798347|PMID:23372019|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8675635|PMID:8878438 12047084 CASR calcium sensing receptor gene DOID:12466 secondary hyperparathyroidism ISO RGD:10291 D RGD:9068941 20200609 RGD protein:decreased expression:parathyroid gland (human) PMID:11044218|REF_RGD_ID:7205664 12047084 CASR calcium sensing receptor gene DOID:12466 secondary hyperparathyroidism severity ISO RGD:10291 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic;DNA:missense mutations:cds:p.R990G, p.Q1011E (human) PMID:19640368|REF_RGD_ID:7205505 12047084 CASR calcium sensing receptor gene DOID:12678 hypercalcemia ISO RGD:10291 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hypercalcemia PMID:17284438|PMID:19389809|PMID:19779033|PMID:22798347|PMID:23372019|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31672324|PMID:8675635|PMID:8878438 12047084 CASR calcium sensing receptor gene DOID:13543 hyperparathyroidism ISO RGD:10291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11589681|PMID:9011580 12047084 CASR calcium sensing receptor gene DOID:13543 hyperparathyroidism ISO RGD:1553551 D RGD:9068941 20200609 RGD PMID:12671052|REF_RGD_ID:734698 12047084 CASR calcium sensing receptor gene DOID:13543 hyperparathyroidism ISO RGD:1553551 D RGD:9068941 20220825 MouseDO OMIM:145000 | OMIM:145001 | OMIM:610071 12047084 CASR calcium sensing receptor gene DOID:1612 breast cancer ISO RGD:10291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm PMID:10023897|PMID:10217111|PMID:10912749|PMID:11161843|PMID:11248745|PMID:11580999|PMID:11733622|PMID:12018449|PMID:12040821|PMID:12052452|PMID:12239240|PMID:12574201|PMID:14508624|PMID:14997007|PMID:15531522|PMID:15864123|PMID:16497624|PMID:17018660|PMID:17117288|PMID:17309124|PMID:17320849|PMID:17332735|PMID:17555508|PMID:17698911|PMID:18328986|PMID:18680227|PMID:19694204|PMID:20602573|PMID:22024717|PMID:24033266|PMID:25705702|PMID:25741868|PMID:26107257|PMID:26467025|PMID:28492532|PMID:8636323 12047084 CASR calcium sensing receptor gene DOID:1827 idiopathic generalized epilepsy ISO RGD:10291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:25741868 12047084 CASR calcium sensing receptor gene DOID:1936 atherosclerosis ISO RGD:10291 D RGD:9068941 20200609 RGD protein:decreased expression:tibial artery (human) PMID:18852253|REF_RGD_ID:7205454 12047084 CASR calcium sensing receptor gene DOID:1936 atherosclerosis ISO RGD:2277 D RGD:9068941 20200609 RGD protein:increased expression:myocardium (rat) PMID:22527939|REF_RGD_ID:7205672 12047084 CASR calcium sensing receptor gene DOID:5844 myocardial infarction ISO RGD:2277 D RGD:9068941 20200609 RGD protein:increased expression:myocardium (rat) PMID:22527939|REF_RGD_ID:7205672 12047084 CASR calcium sensing receptor gene DOID:585 nephrolithiasis ISO RGD:10291 D RGD:9068941 20200609 RGD DNA:snps, haplotypes:multiple (human) PMID:20067903|REF_RGD_ID:7205448 12047084 CASR calcium sensing receptor gene DOID:630 genetic disease ISO RGD:10291 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10023897|PMID:10217111|PMID:10468915|PMID:10912749|PMID:10971459|PMID:11089548|PMID:11161843|PMID:11231970|PMID:11248745|PMID:11580999|PMID:11668634|PMID:11733622|PMID:11763315|PMID:11807402|PMID:12018449|PMID:12040821|PMID:12052452|PMID:12239240|PMID:12469911|PMID:12574201|PMID:12580936|PMID:14089114|PMID:14508624|PMID:14714270|PMID:14985373|PMID:14997007|PMID:15292296|PMID:15531522|PMID:15579740|PMID:15598778|PMID:15864123|PMID:15879434|PMID:16199547|PMID:16497624|PMID:16598859|PMID:16649980|PMID:16740594|PMID:16918956|PMID:17018660|PMID:1706284|PMID:17117288|PMID:17121537|PMID:17284438|PMID:17309124|PMID:17320849|PMID:17332735|PMID:17555508|PMID:17576681|PMID:17698911|PMID:18328986|PMID:18680227|PMID:18756473|PMID:18796518|PMID:18887540|PMID:18938753|PMID:19179454|PMID:19389809|PMID:19694204|PMID:19759318|PMID:19915295|PMID:20164288|PMID:20602573|PMID:20668040|PMID:20798521|PMID:20846291|PMID:21414629|PMID:21521328|PMID:21645025|PMID:22024717|PMID:22192860|PMID:22422767|PMID:22620673|PMID:23265383|PMID:23856262|PMID:23966241|PMID:24033266|PMID:24133354|PMID:24394414|PMID:24517148|PMID:24735972|PMID:24823460|PMID:24854525|PMID:24947037|PMID:25104082|PMID:25292184|PMID:25705702|PMID:25741868|PMID:26107257|PMID:26166472|PMID:26467025|PMID:26646938|PMID:26963950|PMID:27086061|PMID:27157104|PMID:27390877|PMID:27666534|PMID:27957351|PMID:28176280|PMID:28492532|PMID:29026550|PMID:29636377|PMID:29846619|PMID:30376845|PMID:30407919|PMID:30895164|PMID:31189130|PMID:31433868|PMID:31672324|PMID:31883284|PMID:32347971|PMID:32386559|PMID:32638038|PMID:32871939|PMID:33094630|PMID:34024353|PMID:34160437|PMID:35733207|PMID:3966479|PMID:7673400|PMID:8636323|PMID:8675635|PMID:8733126|PMID:8813042|PMID:8878438|PMID:9536098 12047084 CASR calcium sensing receptor gene DOID:6432 pulmonary hypertension ISO RGD:2277 D RGD:9068941 20200609 RGD protein:increased expression:pulmonary artery (rat) PMID:22730443|REF_RGD_ID:7205669 12047084 CASR calcium sensing receptor gene DOID:7608 parathyroid adenoma ISO RGD:10291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid adenoma PMID:17284438|PMID:19389809|PMID:19779033|PMID:22798347|PMID:23372019|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8675635|PMID:8878438 12047084 CASR calcium sensing receptor gene DOID:783 end stage renal disease ISO RGD:10291 D RGD:9068941 20200609 RGD protein:decreased expression:epigastric artery (human) PMID:17537980|REF_RGD_ID:7205455 12047084 CASR calcium sensing receptor gene DOID:9000874 Hyperparathyroidism, Neonatal Severe Primary ISO RGD:10291 D RGD:7240710 20230505 OMIM 12047084 CASR calcium sensing receptor gene DOID:9000874 Hyperparathyroidism, Neonatal Severe Primary ISO RGD:10291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal severe hyperparathyroidism | ClinVar Annotator: match by term: Neonatal severe primary hyperparathyroidism PMID:10023897|PMID:10217111|PMID:10770217|PMID:10885494|PMID:10912749|PMID:11013439|PMID:11161843|PMID:11231970|PMID:11248745|PMID:11580999|PMID:11733622|PMID:11763315|PMID:11807402|PMID:11889203|PMID:12018449|PMID:12040821|PMID:12052452|PMID:12095982|PMID:12107202|PMID:12114500|PMID:12191970|PMID:12239240|PMID:12469911|PMID:12574201|PMID:12890593|PMID:1302026|PMID:14508624|PMID:14997007|PMID:15292296|PMID:15531522|PMID:15572418|PMID:15598778|PMID:15751724|PMID:15864123|PMID:15879434|PMID:16497624|PMID:16642557|PMID:17018660|PMID:1706284|PMID:17117288|PMID:17284438|PMID:17309124|PMID:17320849|PMID:17332735|PMID:17473068|PMID:17478419|PMID:17555508|PMID:17698911|PMID:17803689|PMID:17974727|PMID:18219222|PMID:18328986|PMID:18680227|PMID:18751724|PMID:18756473|PMID:18830196|PMID:1889203|PMID:19102677|PMID:19179454|PMID:19389809|PMID:19423559|PMID:19694204|PMID:19759318|PMID:19779033|PMID:20164288|PMID:20290361|PMID:20602573|PMID:21289269|PMID:21414629|PMID:21521328|PMID:21645025|PMID:22024717|PMID:2211966|PMID:22142470|PMID:22192860|PMID:22331334|PMID:22422767|PMID:22798347|PMID:23077345|PMID:23372019|PMID:23764372|PMID:23966241|PMID:24033266|PMID:24133354|PMID:24203066|PMID:24854525|PMID:24947037|PMID:25091521|PMID:25292184|PMID:25701758|PMID:25705702|PMID:25741868|PMID:25792032|PMID:25828954|PMID:26107257|PMID:26161261|PMID:26166472|PMID:26467025|PMID:26646938|PMID:26855056|PMID:26963950|PMID:27157104|PMID:27434672|PMID:27666534|PMID:27739473|PMID:27957351|PMID:28176280|PMID:28492532|PMID:29846619|PMID:29848507|PMID:30895164|PMID:31189130|PMID:31433868|PMID:31672324|PMID:32761341|PMID:33258288|PMID:34088669|PMID:5013415|PMID:6543841|PMID:7054696|PMID:7717399|PMID:7726161|PMID:7791841|PMID:791660|PMID:7916660|PMID:8636323|PMID:8675635|PMID:8702647|PMID:8878438|PMID:9011580|PMID:9109436|PMID:9253359 12047084 CASR calcium sensing receptor gene DOID:9001542 Albuminuria ISO RGD:2277 D RGD:9068941 20200609 RGD associated with Uremia PMID:19188910|REF_RGD_ID:7205661 12047084 CASR calcium sensing receptor gene DOID:9001738 Hypercalciuria ISO RGD:10291 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.E1011Q (human) PMID:20602573|REF_RGD_ID:7205445 12047084 CASR calcium sensing receptor gene DOID:9001738 Hypercalciuria ISO RGD:2277 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (rat) PMID:22137721|REF_RGD_ID:7205675 12047084 CASR calcium sensing receptor gene DOID:9001738 Hypercalciuria no_association ISO RGD:10291 D RGD:9068941 20200609 RGD associated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutations:cds:p.A986S, p.R990G, p.E1011Q (human) PMID:19887834|REF_RGD_ID:7205502 12047084 CASR calcium sensing receptor gene DOID:9001738 Hypercalciuria susceptibility ISO RGD:10291 D RGD:9068941 20200609 RGD associated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutation:cds:p.R990G (human) PMID:12239240|REF_RGD_ID:7205666 12047084 CASR calcium sensing receptor gene DOID:9002669 Hypoxia ISO RGD:2277 D RGD:9068941 20200609 RGD PMID:22098336|REF_RGD_ID:7205678 12047084 CASR calcium sensing receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:10291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12047084 CASR calcium sensing receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2277 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, liver, kidney (rat) PMID:22844268|REF_RGD_ID:7205442 12047084 CASR calcium sensing receptor gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:2277 D RGD:9068941 20200609 RGD protein:decreased expression:myocardium (rat) PMID:22137362|REF_RGD_ID:7205677 12047084 CASR calcium sensing receptor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:10291 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11807402|PMID:17698911|PMID:20164288|PMID:21521328|PMID:22192860|PMID:22422767|PMID:24133354|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29846619|PMID:30895164|PMID:33094630 12047084 CASR calcium sensing receptor gene DOID:9007257 Autosomal Dominant Hypocalcemia, with Bartter Syndrome ISO RGD:10291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome PMID:11152759|PMID:12107202|PMID:12191970|PMID:12241879|PMID:15005845|PMID:17048213|PMID:25741868 12047084 CASR calcium sensing receptor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2277 D RGD:9068941 20200609 RGD protein:increased expression:ventricular myocardium (rat) PMID:21766206|REF_RGD_ID:7205698 12047084 CASR calcium sensing receptor gene DOID:9008086 Developmental Disabilities ISO RGD:10291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12047084 CASR calcium sensing receptor gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:10291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 12047084 CASR calcium sensing receptor gene DOID:9009050 Hypocalcemia ISO RGD:10291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypocalcemia PMID:25741868|PMID:28492532 12047084 CASR calcium sensing receptor gene DOID:9270 alkaptonuria ISO RGD:10291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12047094 MPHOSPH6 M-phase phosphoprotein 6 gene DOID:630 genetic disease ISO RGD:1321401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047110 PHACTR4 phosphatase and actin regulator 4 gene DOID:0080600 COVID-19 ISO RGD:1351091 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12047110 PHACTR4 phosphatase and actin regulator 4 gene DOID:630 genetic disease ISO RGD:1351091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047165 CHPT1 choline phosphotransferase 1 gene DOID:0070176 spermatogenic failure 4 ISO RGD:1349185 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 4 PMID:28492532 12047165 CHPT1 choline phosphotransferase 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1349185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16292752 12047165 CHPT1 choline phosphotransferase 1 gene DOID:3343 glycoproteinosis ISO RGD:1349185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy PMID:16200072|PMID:16465621|PMID:16630736|PMID:19634183|PMID:25741868|PMID:27662472|PMID:28492532 12047165 CHPT1 choline phosphotransferase 1 gene DOID:630 genetic disease ISO RGD:1349185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047194 SRF serum response factor gene DOID:0050444 infantile Refsum disease ISO RGD:1321393 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12047194 SRF serum response factor gene DOID:0050700 cardiomyopathy ISO RGD:1321393 D RGD:9068941 20200609 RGD PMID:12874181|REF_RGD_ID:1581473 12047194 SRF serum response factor gene DOID:10763 hypertension ISO RGD:1559787 D RGD:9068941 20200609 RGD PMID:16822834|REF_RGD_ID:1580749 12047194 SRF serum response factor gene DOID:12930 dilated cardiomyopathy ISO RGD:1321394 D RGD:9068941 20200609 RGD PMID:16260633|REF_RGD_ID:1580754 12047194 SRF serum response factor gene DOID:12930 dilated cardiomyopathy ISO RGD:1321394 D RGD:9068941 20220825 MouseDO 12047194 SRF serum response factor gene DOID:14566 disease of cellular proliferation ISO RGD:1321393 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17116645 12047194 SRF serum response factor gene DOID:3319 lymphangioleiomyomatosis ISO RGD:1321393 D RGD:9068941 20200609 RGD PMID:12654640|REF_RGD_ID:1580753 12047194 SRF serum response factor gene DOID:3319 lymphangioleiomyomatosis ISO RGD:1321394 D RGD:9068941 20200609 RGD PMID:12654640|REF_RGD_ID:1580753 12047194 SRF serum response factor gene DOID:4989 pancreatitis ISO RGD:1321394 D RGD:9068941 20200609 RGD PMID:16894357|REF_RGD_ID:1581427 12047194 SRF serum response factor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1321393 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12047194 SRF serum response factor gene DOID:6000 congestive heart failure ISO RGD:1321393 D RGD:9068941 20200609 RGD mRNA, protein:splice variant:heart PMID:11893590|REF_RGD_ID:1581426 12047194 SRF serum response factor gene DOID:630 genetic disease ISO RGD:1321393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047194 SRF serum response factor gene DOID:684 hepatocellular carcinoma ISO RGD:1559787 D RGD:9068941 20200609 RGD PMID:9570363|REF_RGD_ID:1581428 12047194 SRF serum response factor gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1321394 D RGD:9068941 20200609 RGD PMID:15569937|REF_RGD_ID:1581424 12047194 SRF serum response factor gene DOID:9003936 Cardiomegaly ISO RGD:1321393 D RGD:9068941 20200609 RGD PMID:12909581|REF_RGD_ID:1581425 12047194 SRF serum response factor gene DOID:905 Zellweger syndrome ISO RGD:1321393 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12047205 TMEM69 transmembrane protein 69 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12047205 TMEM69 transmembrane protein 69 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12047205 TMEM69 transmembrane protein 69 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12047205 TMEM69 transmembrane protein 69 gene DOID:13938 amenorrhea ISO RGD:1605680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12047205 TMEM69 transmembrane protein 69 gene DOID:630 genetic disease ISO RGD:1605680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047218 PCDHB2 protocadherin beta 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1316874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12047218 PCDHB2 protocadherin beta 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1316874 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12047218 PCDHB2 protocadherin beta 2 gene DOID:630 genetic disease ISO RGD:1316874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047218 PCDHB2 protocadherin beta 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12047218 PCDHB2 protocadherin beta 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316874 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12047224 DSEL dermatan sulfate epimerase like gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1317082 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12047224 DSEL dermatan sulfate epimerase like gene DOID:630 genetic disease ISO RGD:1317082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047224 DSEL dermatan sulfate epimerase like gene DOID:8445 intestinal volvulus ISO RGD:1317082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12047224 DSEL dermatan sulfate epimerase like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12047224 DSEL dermatan sulfate epimerase like gene DOID:9008419 Volvulus Of Midgut ISO RGD:1317082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12047230 SPA17 sperm autoantigenic protein 17 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1353517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12047230 SPA17 sperm autoantigenic protein 17 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1353517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12047230 SPA17 sperm autoantigenic protein 17 gene DOID:3965 Merkel cell carcinoma ISO RGD:1353517 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:nucleus PMID:31218705|REF_RGD_ID:27226803 12047230 SPA17 sperm autoantigenic protein 17 gene DOID:5419 schizophrenia ISO RGD:1353517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12047230 SPA17 sperm autoantigenic protein 17 gene DOID:630 genetic disease ISO RGD:1353517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047230 SPA17 sperm autoantigenic protein 17 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1353517 D RGD:9068941 20200609 RGD associated with ovarian carcinoma;proetin:increased expression:epithelium: PMID:19744347|REF_RGD_ID:27226802 12047230 SPA17 sperm autoantigenic protein 17 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1353517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12047230 SPA17 sperm autoantigenic protein 17 gene DOID:9007661 Dwarfism ISO RGD:1353517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12047245 KCNF1 potassium voltage-gated channel modifier subfamily F member 1 gene DOID:10283 prostate cancer ISO RGD:735852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12047245 KCNF1 potassium voltage-gated channel modifier subfamily F member 1 gene DOID:630 genetic disease ISO RGD:735852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047252 NTSR2 neurotensin receptor 2 gene DOID:5419 schizophrenia ISO RGD:733351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12047252 NTSR2 neurotensin receptor 2 gene DOID:630 genetic disease ISO RGD:733351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047261 C1H1orf50 chromosome 1 C1orf50 homolog gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1350429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12047261 C1H1orf50 chromosome 1 C1orf50 homolog gene DOID:630 genetic disease ISO RGD:1350429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047280 MOB1B MOB kinase activator 1B gene DOID:630 genetic disease ISO RGD:1312955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047280 MOB1B MOB kinase activator 1B gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1312955 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12047322 TIMM21 translocase of inner mitochondrial membrane 21 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1351951 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12047322 TIMM21 translocase of inner mitochondrial membrane 21 gene DOID:630 genetic disease ISO RGD:1351951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047322 TIMM21 translocase of inner mitochondrial membrane 21 gene DOID:6420 pulmonary valve stenosis ISO RGD:1351951 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12047322 TIMM21 translocase of inner mitochondrial membrane 21 gene DOID:8445 intestinal volvulus ISO RGD:1351951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12047322 TIMM21 translocase of inner mitochondrial membrane 21 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12047322 TIMM21 translocase of inner mitochondrial membrane 21 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1351951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12047332 CDC42SE2 CDC42 small effector 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343863 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12047332 CDC42SE2 CDC42 small effector 2 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1343863 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:28492532 12047332 CDC42SE2 CDC42 small effector 2 gene DOID:630 genetic disease ISO RGD:1343863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047332 CDC42SE2 CDC42 small effector 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12047332 CDC42SE2 CDC42 small effector 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343863 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12047345 DENND6B DENN domain containing 6B gene DOID:0060041 autism spectrum disorder ISO RGD:1606364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 12047345 DENND6B DENN domain containing 6B gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1606364 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12047345 DENND6B DENN domain containing 6B gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1606364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12047345 DENND6B DENN domain containing 6B gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1606364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 12047345 DENND6B DENN domain containing 6B gene DOID:10581 metachromatic leukodystrophy ISO RGD:1606364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 12047345 DENND6B DENN domain containing 6B gene DOID:1059 intellectual disability ISO RGD:1606364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12047345 DENND6B DENN domain containing 6B gene DOID:630 genetic disease ISO RGD:1606364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047372 CNTNAP2 contactin associated protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1352756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545|PMID:28492532|PMID:30763456 12047372 CNTNAP2 contactin associated protein 2 gene DOID:0060243 stuttering ISO RGD:1352756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21108403 12047372 CNTNAP2 contactin associated protein 2 gene DOID:0060244 specific language impairment susceptibility ISO RGD:1352756 D RGD:9068941 20200609 RGD DNA:SNPs: :(human) PMID:18987363|REF_RGD_ID:13450918 12047372 CNTNAP2 contactin associated protein 2 gene DOID:0060488 Pitt-Hopkins syndrome ISO RGD:1352756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome PMID:18414213|PMID:25741868|PMID:26467025|PMID:27747449|PMID:28492532 12047372 CNTNAP2 contactin associated protein 2 gene DOID:0090130 cortical dysplasia-focal epilepsy syndrome ISO RGD:1352756 D RGD:7240710 20230510 OMIM 12047372 CNTNAP2 contactin associated protein 2 gene DOID:0090130 cortical dysplasia-focal epilepsy syndrome ISO RGD:1352756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1 PMID:11568923|PMID:16199547|PMID:16571880|PMID:17576681|PMID:18179895|PMID:18414213|PMID:19302947|PMID:19896112|PMID:20711234|PMID:21827697|PMID:22031302|PMID:22872700|PMID:23714751|PMID:24083349|PMID:24807205|PMID:25045150|PMID:25167861|PMID:25621974|PMID:25640679|PMID:25741868|PMID:26350204|PMID:26467025|PMID:26843181|PMID:27066544|PMID:27439707|PMID:27621318|PMID:27734276|PMID:27747449|PMID:28440294|PMID:28492532|PMID:28726809|PMID:29261713|PMID:29358611|PMID:29788201|PMID:31875159|PMID:32860008|PMID:33895390|PMID:34540591|PMID:34778490|PMID:34926809|PMID:6564677|PMID:9536098 12047372 CNTNAP2 contactin associated protein 2 gene DOID:1059 intellectual disability ISO RGD:1352756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18179895|PMID:20711234|PMID:22872700|PMID:24807205|PMID:25167861|PMID:25741868|PMID:26467025|PMID:27439707|PMID:28492532 12047372 CNTNAP2 contactin associated protein 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1352756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25648254 12047372 CNTNAP2 contactin associated protein 2 gene DOID:11257 social phobia susceptibility ISO RGD:1352756 D RGD:9068941 20200609 RGD DNA:SNP: :rs2710102(human) PMID:21193173|REF_RGD_ID:13450911 12047372 CNTNAP2 contactin associated protein 2 gene DOID:11832 visual epilepsy ISO RGD:1307076 D RGD:9068941 20230202 RGD PMID:28364455|REF_RGD_ID:12880397 12047372 CNTNAP2 contactin associated protein 2 gene DOID:11832 visual epilepsy ISO RGD:1316053 D RGD:9068941 20230202 RGD PMID:28364455|REF_RGD_ID:12880397 12047372 CNTNAP2 contactin associated protein 2 gene DOID:11832 visual epilepsy ISO RGD:1352756 D RGD:9068941 20230202 RGD DNA:deletions: PMID:19896112|REF_RGD_ID:13450912 12047372 CNTNAP2 contactin associated protein 2 gene DOID:12849 autistic disorder ISO RGD:1352756 D RGD:7240710 20230510 OMIM 12047372 CNTNAP2 contactin associated protein 2 gene DOID:12849 autistic disorder ISO RGD:1352756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, 15 PMID:17576681|PMID:18179893|PMID:18179894|PMID:18179895|PMID:18414213|PMID:19456320|PMID:20711234|PMID:21681106|PMID:22872700|PMID:24807205|PMID:25167861|PMID:25621974|PMID:25741868|PMID:26467025|PMID:27734276|PMID:27747449|PMID:28492532|PMID:29358611|PMID:29788201|PMID:30208311|PMID:31875159|PMID:9536098 12047372 CNTNAP2 contactin associated protein 2 gene DOID:12849 autistic disorder no_association ISO RGD:1352756 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2710102,rs7794745(human) PMID:23277129|REF_RGD_ID:13450907 12047372 CNTNAP2 contactin associated protein 2 gene DOID:12849 autistic disorder susceptibility ISO RGD:1352756 D RGD:9068941 20230511 RGD DNA:SNP: :rs7794745(human) PMID:18179894|REF_RGD_ID:13450909 12047372 CNTNAP2 contactin associated protein 2 gene DOID:13365 reading disorder susceptibility ISO RGD:1352756 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:21165691|REF_RGD_ID:13450919 12047372 CNTNAP2 contactin associated protein 2 gene DOID:14330 Parkinson's disease ISO RGD:1352756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 12047372 CNTNAP2 contactin associated protein 2 gene DOID:1470 major depressive disorder susceptibility ISO RGD:1352756 D RGD:9068941 20200609 RGD DNA:SNPs: : rs2710102,rs2710117(human) PMID:23123147|REF_RGD_ID:13450917 12047372 CNTNAP2 contactin associated protein 2 gene DOID:14731 Weaver syndrome ISO RGD:1352756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Weaver syndrome PMID:28492532 12047372 CNTNAP2 contactin associated protein 2 gene DOID:1826 epilepsy ISO RGD:1352756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12047372 CNTNAP2 contactin associated protein 2 gene DOID:2234 focal epilepsy ISO RGD:1352756 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:25741868 12047372 CNTNAP2 contactin associated protein 2 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1352756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:18179895|PMID:22872700|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611|PMID:29788201 12047372 CNTNAP2 contactin associated protein 2 gene DOID:4186 articulation disorder susceptibility ISO RGD:1352756 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: :rs253897(human) PMID:25895914|REF_RGD_ID:11529633 12047372 CNTNAP2 contactin associated protein 2 gene DOID:4189 mutism susceptibility ISO RGD:1352756 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :rs2710102,rs6944808(human) PMID:21193173|REF_RGD_ID:13450911 12047372 CNTNAP2 contactin associated protein 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1352756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 12047372 CNTNAP2 contactin associated protein 2 gene DOID:5419 schizophrenia ISO RGD:1352756 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12047372 CNTNAP2 contactin associated protein 2 gene DOID:5419 schizophrenia susceptibility ISO RGD:1352756 D RGD:9068941 20200609 RGD DNA:SNP: : rs17236239(human) PMID:23123147|REF_RGD_ID:13450917 12047372 CNTNAP2 contactin associated protein 2 gene DOID:630 genetic disease ISO RGD:1352756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18179895|PMID:18414213|PMID:19896112|PMID:20711234|PMID:21827697|PMID:22872700|PMID:23714751|PMID:24807205|PMID:25045150|PMID:25167861|PMID:25621974|PMID:25741868|PMID:26467025|PMID:26843181|PMID:27439707|PMID:27621318|PMID:27747449|PMID:28440294|PMID:28492532|PMID:29358611|PMID:29788201|PMID:31875159|PMID:6564677 12047372 CNTNAP2 contactin associated protein 2 gene DOID:8927 learning disability ISO RGD:1316053 D RGD:9068941 20200609 RGD PMID:26873041|REF_RGD_ID:13450914 12047372 CNTNAP2 contactin associated protein 2 gene DOID:9001846 Schizoaffective Disorder, Depressive Type ISO RGD:1352756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizoaffective disorder, depressive type PMID:26985448 12047372 CNTNAP2 contactin associated protein 2 gene DOID:9002362 Hyperkinesis ISO RGD:1352756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21962519 12047372 CNTNAP2 contactin associated protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352756 D RGD:9068941 20200609 RGD PMID:28572274|REF_RGD_ID:13450910 12047372 CNTNAP2 contactin associated protein 2 gene DOID:9005466 Language Development Disorders ISO RGD:1352756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20157312|PMID:21082657|PMID:21310003 12047400 CDC14B cell division cycle 14B gene DOID:1059 intellectual disability ISO RGD:1322476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities 12047400 CDC14B cell division cycle 14B gene DOID:4450 renal cell carcinoma severity ISO RGD:1322476 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney: PMID:24619757|REF_RGD_ID:10059341 12047400 CDC14B cell division cycle 14B gene DOID:630 genetic disease ISO RGD:1322476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047400 CDC14B cell division cycle 14B gene DOID:9002644 Premature Aging ISO RGD:1322477 D RGD:9068941 20200609 RGD PMID:21262768|REF_RGD_ID:10059338 12047418 ADCY10 adenylate cyclase 10 gene DOID:0111942 immunodeficiency 25 ISO RGD:737484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 12047418 ADCY10 adenylate cyclase 10 gene DOID:12336 male infertility ISO RGD:737484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 12047418 ADCY10 adenylate cyclase 10 gene DOID:1540 parathyroid carcinoma ISO RGD:737484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12047418 ADCY10 adenylate cyclase 10 gene DOID:630 genetic disease ISO RGD:737484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12047418 ADCY10 adenylate cyclase 10 gene DOID:9003936 Cardiomegaly ameliorates ISO RGD:737485 D RGD:9068941 20230429 RGD PMID:29466442|REF_RGD_ID:329337358 12047418 ADCY10 adenylate cyclase 10 gene DOID:9005047 Hypercalciuria, Absorptive, 2 ISO RGD:737484 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial idiopathic hypercalciuria PMID:11932268|PMID:17576681|PMID:25741868|PMID:26787776|PMID:28492532|PMID:9536098 12047418 ADCY10 adenylate cyclase 10 gene DOID:9005047 Hypercalciuria, Absorptive, 2 susceptibility ISO RGD:737484 D RGD:7240710 20190502 OMIM 12047418 ADCY10 adenylate cyclase 10 gene DOID:9008091 Optic Nerve Injuries ISO RGD:708450 D RGD:9068941 20230504 RGD protein:decreased expression:retina PMID:22649251|REF_RGD_ID:329347828 12047418 ADCY10 adenylate cyclase 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12047454 TIMD4 T cell immunoglobulin and mucin domain containing 4 gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1353666 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 12047454 TIMD4 T cell immunoglobulin and mucin domain containing 4 gene DOID:5119 ovarian cyst ISO RGD:1353666 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12047454 TIMD4 T cell immunoglobulin and mucin domain containing 4 gene DOID:630 genetic disease ISO RGD:1353666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047454 TIMD4 T cell immunoglobulin and mucin domain containing 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1353666 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12047454 TIMD4 T cell immunoglobulin and mucin domain containing 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:1557669 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12047468 LTA lymphotoxin alpha gene DOID:0050127 sinusitis susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:11037831|REF_RGD_ID:4143260 12047468 LTA lymphotoxin alpha gene DOID:0050553 JMP syndrome ISO RGD:1345394 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12047468 LTA lymphotoxin alpha gene DOID:0050697 chorioamnionitis severity ISO RGD:1345394 D RGD:9068941 20200609 RGD associated with Premature Birth;DNA:SNP:promoter:250G>A (human) PMID:15128916|REF_RGD_ID:12904055 12047468 LTA lymphotoxin alpha gene DOID:0080750 erythema nodosum ISO RGD:1345394 D RGD:9068941 20200609 RGD associated with Sarcoidosis;DNA:polymorphism:intron PMID:19225544|REF_RGD_ID:8548773 12047468 LTA lymphotoxin alpha gene DOID:1024 leprosy ISO RGD:1345394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leprosy, early-onset, susceptibility to PMID:15052269|PMID:17353895 12047468 LTA lymphotoxin alpha gene DOID:1024 leprosy susceptibility ISO RGD:1345394 D RGD:7240710 20190502 OMIM 12047468 LTA lymphotoxin alpha gene DOID:10763 hypertension no_association ISO RGD:1345394 D RGD:9068941 20200609 RGD PMID:15533732|REF_RGD_ID:1580415 12047468 LTA lymphotoxin alpha gene DOID:11372 megacolon ISO RGD:1345394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12047468 LTA lymphotoxin alpha gene DOID:11394 adult respiratory distress syndrome ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorhpism:blood: PMID:16135717|REF_RGD_ID:4143247 12047468 LTA lymphotoxin alpha gene DOID:1205 allergic disease ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype PMID:11591192|REF_RGD_ID:8548785 12047468 LTA lymphotoxin alpha gene DOID:1205 allergic disease ISO RGD:1345394 D RGD:9068941 20200609 RGD associated with Nasal Polyps PMID:22545387|REF_RGD_ID:8548802 12047468 LTA lymphotoxin alpha gene DOID:12361 Graves' disease ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:1346144|REF_RGD_ID:8548778 12047468 LTA lymphotoxin alpha gene DOID:12361 Graves' disease no_association ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:7928443|REF_RGD_ID:8548790 12047468 LTA lymphotoxin alpha gene DOID:12894 Sjogren's syndrome ISO RGD:1345394 D RGD:9068941 20200609 RGD protein:increased expression:saliva, serum PMID:20952683|REF_RGD_ID:8548776 12047468 LTA lymphotoxin alpha gene DOID:12894 Sjogren's syndrome ISO RGD:733657 D RGD:9068941 20200609 RGD PMID:20952683|REF_RGD_ID:8548776 12047468 LTA lymphotoxin alpha gene DOID:12894 Sjogren's syndrome no_association ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:22294627|REF_RGD_ID:8548787 12047468 LTA lymphotoxin alpha gene DOID:12894 Sjogren's syndrome susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:intron: (rs909253) (human) PMID:22294627|REF_RGD_ID:8548787 12047468 LTA lymphotoxin alpha gene DOID:13258 typhoid fever susceptibility ISO RGD:1345394 D RGD:9068941 20200716 RGD DNA:SNP:: PMID:11120931|REF_RGD_ID:36049756 12047468 LTA lymphotoxin alpha gene DOID:13406 pulmonary sarcoidosis susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:SNP:intron: PMID:15713215|REF_RGD_ID:4143248 12047468 LTA lymphotoxin alpha gene DOID:13413 hepatic encephalopathy ISO RGD:1345394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9696492 12047468 LTA lymphotoxin alpha gene DOID:1380 endometrial cancer susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism: :252A>G, 804C>A (human) PMID:17045328|REF_RGD_ID:2313259 12047468 LTA lymphotoxin alpha gene DOID:14069 cerebral malaria ISO RGD:733657 D RGD:9068941 20200609 RGD PMID:12021316|REF_RGD_ID:10449455 12047468 LTA lymphotoxin alpha gene DOID:1485 cystic fibrosis severity ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype: :252A>G (human) PMID:21993476|REF_RGD_ID:6767553 12047468 LTA lymphotoxin alpha gene DOID:1612 breast cancer susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:SNP:intron PMID:11841482|REF_RGD_ID:8548791 12047468 LTA lymphotoxin alpha gene DOID:1612 breast cancer susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype: :252A>G (human) PMID:18409070|REF_RGD_ID:8548786 12047468 LTA lymphotoxin alpha gene DOID:1679 cystitis ISO RGD:3020 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:11948286|REF_RGD_ID:6907118 12047468 LTA lymphotoxin alpha gene DOID:1790 malignant mesothelioma ISO RGD:1345394 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 12047468 LTA lymphotoxin alpha gene DOID:1909 melanoma disease_progression ISO RGD:1345394 D RGD:9068941 20200609 RGD PMID:9182821|REF_RGD_ID:8548801 12047468 LTA lymphotoxin alpha gene DOID:2018 hyperinsulinism ISO RGD:1345394 D RGD:9068941 20200609 RGD associated with Coronary Arteriosclerosis PMID:9726033|REF_RGD_ID:1625034 12047468 LTA lymphotoxin alpha gene DOID:2349 arteriosclerosis ISO RGD:733657 D RGD:9068941 20200609 RGD PMID:11809756|REF_RGD_ID:1581936 12047468 LTA lymphotoxin alpha gene DOID:2773 contact dermatitis ISO RGD:733657 D RGD:9068941 20200609 RGD PMID:11390430|REF_RGD_ID:8548819 12047468 LTA lymphotoxin alpha gene DOID:2841 asthma ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism:intron PMID:17536219|REF_RGD_ID:4143371 12047468 LTA lymphotoxin alpha gene DOID:2841 asthma no_association ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism:intron PMID:12530118|REF_RGD_ID:4143254 12047468 LTA lymphotoxin alpha gene DOID:2841 asthma susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism:intron PMID:18947013|REF_RGD_ID:4143370 12047468 LTA lymphotoxin alpha gene DOID:2841 asthma susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter PMID:15969671|REF_RGD_ID:4143373 12047468 LTA lymphotoxin alpha gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:252G>A (human) PMID:20180006|REF_RGD_ID:4143234 12047468 LTA lymphotoxin alpha gene DOID:3070 high grade glioma treatment ISO RGD:1345394 D RGD:9068941 20200609 RGD PMID:1883913|REF_RGD_ID:1625042 12047468 LTA lymphotoxin alpha gene DOID:3393 coronary artery disease ISO RGD:1345394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15266304 12047468 LTA lymphotoxin alpha gene DOID:3393 coronary artery disease ISO RGD:1345394 D RGD:9068941 20200609 RGD PMID:15973460|REF_RGD_ID:1580414 12047468 LTA lymphotoxin alpha gene DOID:3407 carotid artery disease susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :252A>G (human) PMID:17065682|REF_RGD_ID:1581937 12047468 LTA lymphotoxin alpha gene DOID:3526 cerebral infarction ISO RGD:1345394 D RGD:9068941 20200609 RGD PMID:14593215|REF_RGD_ID:1580416 12047468 LTA lymphotoxin alpha gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1345394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29379198 12047468 LTA lymphotoxin alpha gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345394 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:9669810|REF_RGD_ID:4143264 12047468 LTA lymphotoxin alpha gene DOID:418 systemic scleroderma susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:SNP:intron:252A>G (human) PMID:10600011|REF_RGD_ID:8548796 12047468 LTA lymphotoxin alpha gene DOID:4398 pustulosis of palm and sole ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS1 (human) PMID:12691703|REF_RGD_ID:8548804 12047468 LTA lymphotoxin alpha gene DOID:5844 myocardial infarction ISO RGD:1345394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:12426569|PMID:12746914|PMID:14681301|PMID:15266304 12047468 LTA lymphotoxin alpha gene DOID:5844 myocardial infarction no_association ISO RGD:1345394 D RGD:9068941 20200609 RGD PMID:15175864|REF_RGD_ID:1581940 12047468 LTA lymphotoxin alpha gene DOID:5844 myocardial infarction severity ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:SNP:exon:804C>A (p.T26N) (human) PMID:23398946|REF_RGD_ID:8548841 12047468 LTA lymphotoxin alpha gene DOID:5844 myocardial infarction susceptibility ISO RGD:1345394 D RGD:7240710 20190502 OMIM 12047468 LTA lymphotoxin alpha gene DOID:630 genetic disease ISO RGD:1345394 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047468 LTA lymphotoxin alpha gene DOID:8505 dermatitis herpetiformis ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:7914110|REF_RGD_ID:8548777 12047468 LTA lymphotoxin alpha gene DOID:8893 psoriasis susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS1 (human) PMID:12709814|REF_RGD_ID:8548775 12047468 LTA lymphotoxin alpha gene DOID:8947 diabetic retinopathy no_association ISO RGD:1345394 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphism:intron, exon:252A>G, 804C>A (human) PMID:16979413|REF_RGD_ID:8548772 12047468 LTA lymphotoxin alpha gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphism: PMID:11399938|REF_RGD_ID:8548797 12047468 LTA lymphotoxin alpha gene DOID:9002165 Diabetic Nephropathies ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:18575614|REF_RGD_ID:2313255 12047468 LTA lymphotoxin alpha gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3020 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:9184655|REF_RGD_ID:4143220 12047468 LTA lymphotoxin alpha gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3020 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:7593556|REF_RGD_ID:1625038 12047468 LTA lymphotoxin alpha gene DOID:9003817 Sudden Hearing Loss ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:252A>G (human) PMID:19833626|REF_RGD_ID:8548795 12047468 LTA lymphotoxin alpha gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:733657 D RGD:9068941 20200609 RGD PMID:11145686|REF_RGD_ID:8548806 12047468 LTA lymphotoxin alpha gene DOID:9004283 Transplant Rejection ISO RGD:3020 D RGD:9068941 20200609 RGD PMID:8356596|REF_RGD_ID:8548835 12047468 LTA lymphotoxin alpha gene DOID:9004283 Transplant Rejection treatment ISO RGD:3020 D RGD:9068941 20200609 RGD PMID:2338821|REF_RGD_ID:8548836 12047468 LTA lymphotoxin alpha gene DOID:9004484 Sepsis ISO RGD:1345394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22977509 12047468 LTA lymphotoxin alpha gene DOID:9006599 Hypertriglyceridemia no_association ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:9245742|REF_RGD_ID:1625035 12047468 LTA lymphotoxin alpha gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:7783649|REF_RGD_ID:1625036 12047468 LTA lymphotoxin alpha gene DOID:9007346 Cachexia susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;DNA:polymorphism:intron:252G>A (human) PMID:18953879|REF_RGD_ID:8548798 12047468 LTA lymphotoxin alpha gene DOID:9007692 Insulin Resistance no_association ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:9245742|REF_RGD_ID:1625035 12047468 LTA lymphotoxin alpha gene DOID:9008 psoriatic arthritis ISO RGD:1345394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to PMID:12426569|PMID:12746914|PMID:14681301 12047468 LTA lymphotoxin alpha gene DOID:9008 psoriatic arthritis susceptibility ISO RGD:1345394 D RGD:7240710 20190502 OMIM 12047468 LTA lymphotoxin alpha gene DOID:9008 psoriatic arthritis treatment ISO RGD:1345394 D RGD:9068941 20200609 RGD PMID:22480318|REF_RGD_ID:8548821 12047468 LTA lymphotoxin alpha gene DOID:9111 cutaneous leishmaniasis no_association ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:SNP:intron:252A>G (human) PMID:16950634|REF_RGD_ID:8548800 12047468 LTA lymphotoxin alpha gene DOID:9146 visceral leishmaniasis ISO RGD:733657 D RGD:9068941 20200609 RGD PMID:15579454|REF_RGD_ID:8548789 12047468 LTA lymphotoxin alpha gene DOID:9146 visceral leishmaniasis severity ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:12438370|REF_RGD_ID:8548784 12047468 LTA lymphotoxin alpha gene DOID:9155 mucocutaneous leishmaniasis ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism:intron PMID:7595196|REF_RGD_ID:8548799 12047468 LTA lymphotoxin alpha gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.T60N (human) PMID:16132956|REF_RGD_ID:2313261 12047468 LTA lymphotoxin alpha gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.T60N (human) PMID:15729581|REF_RGD_ID:1625033 12047468 LTA lymphotoxin alpha gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:CDS:rs2229094 (human) PMID:20663564|REF_RGD_ID:8548782 12047468 LTA lymphotoxin alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:1345394 D RGD:9068941 20200609 RGD PMID:11141334|REF_RGD_ID:2313263 12047468 LTA lymphotoxin alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism: :252A>G (human) PMID:12622777|REF_RGD_ID:2313262 12047468 LTA lymphotoxin alpha gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:1345394 D RGD:9068941 20200609 RGD protein:decreased expression:mononuclear cell PMID:9342542|REF_RGD_ID:2313264 12047468 LTA lymphotoxin alpha gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:19120272|REF_RGD_ID:2313253 12047468 LTA lymphotoxin alpha gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism: :249A>G (human) PMID:17989340|REF_RGD_ID:2313257 12047468 LTA lymphotoxin alpha gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:1345394 D RGD:9068941 20200609 RGD PMID:8242903|REF_RGD_ID:8548842 12047468 LTA lymphotoxin alpha gene DOID:9784 trichinosis ISO RGD:733657 D RGD:9068941 20200609 RGD PMID:19564380|REF_RGD_ID:8548805 12047476 ICA1 islet cell autoantigen 1 gene DOID:630 genetic disease ISO RGD:733652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047476 ICA1 islet cell autoantigen 1 gene DOID:9351 diabetes mellitus ISO RGD:621465 D RGD:9068941 20200609 RGD PMID:7918678|REF_RGD_ID:633043 12047476 ICA1 islet cell autoantigen 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:733653 D RGD:9068941 20200609 RGD PMID:11751995|REF_RGD_ID:2311487 12047476 ICA1 islet cell autoantigen 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:733653 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:thymus gland PMID:14679103|REF_RGD_ID:2311486 12047476 ICA1 islet cell autoantigen 1 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:733652 D RGD:9068941 20200609 RGD PMID:8647206|REF_RGD_ID:2311488 12047494 LOC100980580 uncharacterized protein KIAA0040 gene DOID:1540 parathyroid carcinoma ISO RGD:2290033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12047494 LOC100980580 uncharacterized protein KIAA0040 gene DOID:3755 antithrombin III deficiency ISO RGD:2290033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 12047494 LOC100980580 uncharacterized protein KIAA0040 gene DOID:630 genetic disease ISO RGD:2290033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047494 LOC100980580 uncharacterized protein KIAA0040 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:2290033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 12047494 LOC100980580 uncharacterized protein KIAA0040 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:2290033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12047514 NFKBIB NFKB inhibitor beta gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:732611 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12047514 NFKBIB NFKB inhibitor beta gene DOID:630 genetic disease ISO RGD:732611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047514 NFKBIB NFKB inhibitor beta gene DOID:9352 type 2 diabetes mellitus ISO RGD:732611 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12047533 TMEM229A transmembrane protein 229A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:3102903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12047533 TMEM229A transmembrane protein 229A gene DOID:630 genetic disease ISO RGD:3102903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047538 NLN neurolysin gene DOID:0080600 COVID-19 ISO RGD:731408 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12047538 NLN neurolysin gene DOID:630 genetic disease ISO RGD:731408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047538 NLN neurolysin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12047555 KAT5 lysine acetyltransferase 5 gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:732354 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome PMID:25741868 12047555 KAT5 lysine acetyltransferase 5 gene DOID:0111669 hyaline fibromatosis syndrome ISO RGD:732354 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyaline fibromatosis syndrome PMID:25741868 12047555 KAT5 lysine acetyltransferase 5 gene DOID:1059 intellectual disability ISO RGD:732354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12047555 KAT5 lysine acetyltransferase 5 gene DOID:11758 iron deficiency anemia ISO RGD:621061 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:18723004|REF_RGD_ID:2301196 12047555 KAT5 lysine acetyltransferase 5 gene DOID:1612 breast cancer severity ISO RGD:732354 D RGD:9068941 20200609 RGD mRNA:altered expression:breast (human) PMID:22199269|REF_RGD_ID:9586031 12047555 KAT5 lysine acetyltransferase 5 gene DOID:1790 malignant mesothelioma ISO RGD:732354 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:26780987 12047555 KAT5 lysine acetyltransferase 5 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12047555 KAT5 lysine acetyltransferase 5 gene DOID:2746 glycogen storage disease V ISO RGD:732354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12047555 KAT5 lysine acetyltransferase 5 gene DOID:630 genetic disease ISO RGD:732354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047555 KAT5 lysine acetyltransferase 5 gene DOID:707 B-cell lymphoma severity ISO RGD:1550306 D RGD:9068941 20200609 RGD PMID:17728759|REF_RGD_ID:9588481 12047555 KAT5 lysine acetyltransferase 5 gene DOID:9000615 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES ISO RGD:732354 D RGD:7240710 20210120 OMIM 12047555 KAT5 lysine acetyltransferase 5 gene DOID:9000615 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES ISO RGD:732354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities PMID:25741868|PMID:32822602 12047555 KAT5 lysine acetyltransferase 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732354 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, nucleus (human) PMID:23056207|REF_RGD_ID:9588480 12047555 KAT5 lysine acetyltransferase 5 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:732354 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12047555 KAT5 lysine acetyltransferase 5 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:732354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:25741868|PMID:28492532|PMID:28600438 12047577 PNPO pyridoxamine 5'-phosphate oxidase gene DOID:0111204 distal hereditary motor neuronopathy type 5A ISO RGD:1352951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A PMID:24266778|PMID:24645144|PMID:24658933|PMID:24781210|PMID:25741868|PMID:25762494|PMID:28492532 12047577 PNPO pyridoxamine 5'-phosphate oxidase gene DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency ISO RGD:1352951 D RGD:7240710 20180130 OMIM 12047577 PNPO pyridoxamine 5'-phosphate oxidase gene DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency ISO RGD:1352951 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pyridoxal phosphate-responsive seizures PMID:15182361|PMID:15772097|PMID:16199547|PMID:17216302|PMID:17576681|PMID:18296573|PMID:18485777|PMID:19759001|PMID:20370816|PMID:21292558|PMID:22858719|PMID:23419474|PMID:23708187|PMID:24266778|PMID:24297574|PMID:24645144|PMID:24658933|PMID:24781210|PMID:25256445|PMID:25741868|PMID:25762494|PMID:25979913|PMID:26467025|PMID:26535729|PMID:27014579|PMID:27419045|PMID:27781031|PMID:28133863|PMID:28349276|PMID:28492532|PMID:28929476|PMID:28985901|PMID:29588952|PMID:29610166|PMID:31440721|PMID:32788630|PMID:33087887|PMID:34177756|PMID:34769443|PMID:9536098 12047577 PNPO pyridoxamine 5'-phosphate oxidase gene DOID:1824 status epilepticus ISO RGD:1352951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19356691 12047577 PNPO pyridoxamine 5'-phosphate oxidase gene DOID:1826 epilepsy ISO RGD:1352951 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:24266778|PMID:24645144|PMID:24658933|PMID:24781210|PMID:25741868|PMID:25762494|PMID:26467025|PMID:28492532 12047577 PNPO pyridoxamine 5'-phosphate oxidase gene DOID:630 genetic disease ISO RGD:1352951 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15182361|PMID:17216302|PMID:20370816|PMID:23419474|PMID:24266778|PMID:24645144|PMID:24658933|PMID:24781210|PMID:25256445|PMID:25741868|PMID:25762494|PMID:25979913|PMID:26467025|PMID:27781031|PMID:28492532|PMID:31440721|PMID:33087887 12047591 LRP1 LDL receptor related protein 1 gene DOID:0050700 cardiomyopathy ISO RGD:1316787 D RGD:9068941 20220825 MouseDO 12047591 LRP1 LDL receptor related protein 1 gene DOID:0050855 renal fibrosis ISO RGD:1316787 D RGD:9068941 20200609 RGD PMID:18037995|REF_RGD_ID:7243102 12047591 LRP1 LDL receptor related protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1316786 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12047591 LRP1 LDL receptor related protein 1 gene DOID:0060327 omphalocele ISO RGD:1316787 D RGD:9068941 20220825 MouseDO OMIM:164750 12047591 LRP1 LDL receptor related protein 1 gene DOID:0080169 tricuspid atresia ISO RGD:1316786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tricuspid atresia PMID:25741868 12047591 LRP1 LDL receptor related protein 1 gene DOID:0080751 keratosis pilaris atrophicans ISO RGD:1316786 D RGD:7240710 20190315 OMIM 12047591 LRP1 LDL receptor related protein 1 gene DOID:10283 prostate cancer ISO RGD:1316786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12047591 LRP1 LDL receptor related protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:1316786 D RGD:9068941 20200609 RGD DNA:SNP:exon 3:C>T (human) PMID:9635959|REF_RGD_ID:1358747 12047591 LRP1 LDL receptor related protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:1316787 D RGD:9068941 20200609 RGD PMID:19150622|REF_RGD_ID:13800553 12047591 LRP1 LDL receptor related protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:1316787 D RGD:9068941 20220825 MouseDO OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 12047591 LRP1 LDL receptor related protein 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:1307535 D RGD:9068941 20200609 RGD PMID:29115637|REF_RGD_ID:13799352 12047591 LRP1 LDL receptor related protein 1 gene DOID:11044 gastroschisis ISO RGD:1316787 D RGD:9068941 20220825 MouseDO OMIM:230750 12047591 LRP1 LDL receptor related protein 1 gene DOID:11446 sciatic neuropathy ISO RGD:1307535 D RGD:9068941 20200609 RGD PMID:26656067|REF_RGD_ID:13792690 12047591 LRP1 LDL receptor related protein 1 gene DOID:11446 sciatic neuropathy treatment ISO RGD:1316786 D RGD:9068941 20200609 RGD PMID:18060043|REF_RGD_ID:13800561 12047591 LRP1 LDL receptor related protein 1 gene DOID:12783 migraine without aura ISO RGD:1316786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22683712 12047591 LRP1 LDL receptor related protein 1 gene DOID:2349 arteriosclerosis ISO RGD:1316787 D RGD:9068941 20200609 RGD PMID:14739216|REF_RGD_ID:1581910 12047591 LRP1 LDL receptor related protein 1 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:1316787 D RGD:9068941 20200609 RGD associated with Hypercholesterolemia PMID:17303763|REF_RGD_ID:1625012 12047591 LRP1 LDL receptor related protein 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1316787 D RGD:9068941 20220825 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 12047591 LRP1 LDL receptor related protein 1 gene DOID:5419 schizophrenia ISO RGD:1316786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 12047591 LRP1 LDL receptor related protein 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1316786 D RGD:9068941 20200609 RGD PMID:12402342|REF_RGD_ID:1581913 12047591 LRP1 LDL receptor related protein 1 gene DOID:630 genetic disease ISO RGD:1316786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12047591 LRP1 LDL receptor related protein 1 gene DOID:6364 migraine ISO RGD:1316786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21666692 12047591 LRP1 LDL receptor related protein 1 gene DOID:6846 familial melanoma ISO RGD:1316786 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 12047591 LRP1 LDL receptor related protein 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:1307535 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:14623925|REF_RGD_ID:1625030 12047591 LRP1 LDL receptor related protein 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1307535 D RGD:9068941 20200609 RGD PMID:23867460|REF_RGD_ID:13800520 12047591 LRP1 LDL receptor related protein 1 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1316786 D RGD:9068941 20200609 RGD PMID:15121769|REF_RGD_ID:1581911 12047591 LRP1 LDL receptor related protein 1 gene DOID:9000847 Burnett Schwartz Berberian Syndrome ISO RGD:1316786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrophodermia vermiculata | ClinVar Annotator: match by term: Keratosis pilaris PMID:25741868|PMID:26142438|PMID:28381441 12047591 LRP1 LDL receptor related protein 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1316787 D RGD:9068941 20200609 RGD protein:increased expression:cerebellum, spinal cord PMID:19299462|REF_RGD_ID:13800552 12047591 LRP1 LDL receptor related protein 1 gene DOID:9004590 Acute Liver Failure ISO RGD:1316787 D RGD:9068941 20200609 RGD associated with Carbon Tetrachloride Poisoning PMID:26237273|REF_RGD_ID:13800515 12047591 LRP1 LDL receptor related protein 1 gene DOID:9007748 Retinal Neovascularization ISO RGD:1307535 D RGD:9068941 20200609 RGD protein:increased expression:retina, muller cell PMID:16979164|REF_RGD_ID:1625022 12047591 LRP1 LDL receptor related protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1316786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12047591 LRP1 LDL receptor related protein 1 gene DOID:9008582 Developmental Disease ISO RGD:1316786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:15294142|PMID:25741868 12047591 LRP1 LDL receptor related protein 1 gene DOID:9351 diabetes mellitus treatment ISO RGD:1307535 D RGD:9068941 20200609 RGD PMID:22889684|REF_RGD_ID:13800521 12047687 C9H9orf78 chromosome 9 C9orf78 homolog gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1313051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12047705 GFPT2 glutamine-fructose-6-phosphate transaminase 2 gene DOID:630 genetic disease ISO RGD:1351553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047705 GFPT2 glutamine-fructose-6-phosphate transaminase 2 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:1351553 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:3' utr PMID:14764791|REF_RGD_ID:2307362 12047705 GFPT2 glutamine-fructose-6-phosphate transaminase 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1351553 D RGD:9068941 20200609 RGD DNA:missense mutation, SNPs:exon, 3' utr:multiple PMID:14764791|REF_RGD_ID:2307362 12047731 SMIM22 small integral membrane protein 22 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:7247217 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12047731 SMIM22 small integral membrane protein 22 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:7247217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 12047731 SMIM22 small integral membrane protein 22 gene DOID:1826 epilepsy ISO RGD:7247217 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12047731 SMIM22 small integral membrane protein 22 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:7247217 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12047731 SMIM22 small integral membrane protein 22 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:7247217 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12047745 PROK2 prokineticin 2 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1350776 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 12047745 PROK2 prokineticin 2 gene DOID:0090077 hypogonadotropic hypogonadism 4 with or without anosmia ISO RGD:1350776 D RGD:7240710 20190102 OMIM 12047745 PROK2 prokineticin 2 gene DOID:0090077 hypogonadotropic hypogonadism 4 with or without anosmia ISO RGD:1350776 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 4 with or without anosmia PMID:17054399|PMID:17959774|PMID:18285834|PMID:18559922|PMID:18682503|PMID:23643382|PMID:24423319|PMID:25741868|PMID:26141714|PMID:26467025|PMID:28492532|PMID:31200363 12047745 PROK2 prokineticin 2 gene DOID:13938 amenorrhea ISO RGD:1350776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 12047745 PROK2 prokineticin 2 gene DOID:1921 Klinefelter syndrome ISO RGD:1350776 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 12047745 PROK2 prokineticin 2 gene DOID:1923 disorder of sexual development ISO RGD:1350776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 12047745 PROK2 prokineticin 2 gene DOID:3614 Kallmann syndrome ISO RGD:1350776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12047745 PROK2 prokineticin 2 gene DOID:630 genetic disease ISO RGD:1350776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047745 PROK2 prokineticin 2 gene DOID:9002211 Hyperalgesia ISO RGD:1350776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16793879 12047751 VARS1 valyl-tRNA synthetase 1 gene DOID:0050553 JMP syndrome ISO RGD:735744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12047751 VARS1 valyl-tRNA synthetase 1 gene DOID:1059 intellectual disability ISO RGD:735744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:30275004 12047751 VARS1 valyl-tRNA synthetase 1 gene DOID:10907 microcephaly ISO RGD:735744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:30275004 12047751 VARS1 valyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:735744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11114335 12047751 VARS1 valyl-tRNA synthetase 1 gene DOID:9003507 Premature Birth ISO RGD:735744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature birth PMID:25741868|PMID:30275004 12047751 VARS1 valyl-tRNA synthetase 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:735744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:30275004 12047751 VARS1 valyl-tRNA synthetase 1 gene DOID:9009098 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY ISO RGD:735744 D RGD:7240710 20190315 OMIM 12047751 VARS1 valyl-tRNA synthetase 1 gene DOID:9009098 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY ISO RGD:735744 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy PMID:11114335|PMID:25741868|PMID:26539891|PMID:29221463|PMID:29691655|PMID:30275004|PMID:30755602|PMID:30755616 12047787 GDA guanine deaminase gene DOID:10534 stomach cancer ISO RGD:734048 D RGD:9068941 20220616 RGD protein:increased expression:stomach: PMID:8076377|REF_RGD_ID:152995290 12047787 GDA guanine deaminase gene DOID:305 carcinoma ISO RGD:734048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12047787 GDA guanine deaminase gene DOID:630 genetic disease ISO RGD:734048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047787 GDA guanine deaminase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:734048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12047787 GDA guanine deaminase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12047787 GDA guanine deaminase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12047809 UTP11 UTP11 small subunit processome component gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:731994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12047809 UTP11 UTP11 small subunit processome component gene DOID:630 genetic disease ISO RGD:731994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047821 ARHGAP12 Rho GTPase activating protein 12 gene DOID:0080600 COVID-19 ISO RGD:1320676 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12047821 ARHGAP12 Rho GTPase activating protein 12 gene DOID:630 genetic disease ISO RGD:1320676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047881 TMIGD2 transmembrane and immunoglobulin domain containing 2 gene DOID:13938 amenorrhea ISO RGD:1606734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12047881 TMIGD2 transmembrane and immunoglobulin domain containing 2 gene DOID:630 genetic disease ISO RGD:1606734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047893 EZH1 enhancer of zeste 1 polycomb repressive complex 2 subunit gene DOID:630 genetic disease ISO RGD:1312813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047915 MAST3 microtubule associated serine/threonine kinase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316095 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:25741868|PMID:34185323 12047915 MAST3 microtubule associated serine/threonine kinase 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316095 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:34185323 12047915 MAST3 microtubule associated serine/threonine kinase 3 gene DOID:630 genetic disease ISO RGD:1316095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047915 MAST3 microtubule associated serine/threonine kinase 3 gene DOID:9006521 Developmental and Epileptic Encephalopathy 108 ISO RGD:1316095 D RGD:7240710 20221123 OMIM 12047915 MAST3 microtubule associated serine/threonine kinase 3 gene DOID:9006521 Developmental and Epileptic Encephalopathy 108 ISO RGD:1316095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 108 PMID:25741868|PMID:34185323|PMID:35095415 12047915 MAST3 microtubule associated serine/threonine kinase 3 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1316095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12047952 PRDM13 PR/SET domain 13 gene DOID:630 genetic disease ISO RGD:1322406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12047952 PRDM13 PR/SET domain 13 gene DOID:8501 fundus dystrophy ISO RGD:1322406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 12047952 PRDM13 PR/SET domain 13 gene DOID:9001226 Retinal Macular Dystrophy 1, North Carolina Type ISO RGD:1322406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy retinal 1 North Carolina type | ClinVar Annotator: match by term: North Carolina macular dystrophy PMID:10617775|PMID:25741868|PMID:26507665|PMID:27551809|PMID:28492532|PMID:28790370|PMID:31043363|PMID:31814698|PMID:32476814|PMID:9238090|PMID:9801042|PMID:9924305 12047952 PRDM13 PR/SET domain 13 gene DOID:9002530 pontocerebellar hypoplasia type 17 ISO RGD:1322406 D RGD:7240710 20220629 OMIM 12047952 PRDM13 PR/SET domain 13 gene DOID:9002530 pontocerebellar hypoplasia type 17 ISO RGD:1322406 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 PMID:35390279 12047952 PRDM13 PR/SET domain 13 gene DOID:9003751 CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM ISO RGD:1322406 D RGD:7240710 20220316 OMIM 12047952 PRDM13 PR/SET domain 13 gene DOID:9003751 CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM ISO RGD:1322406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism PMID:34730112 12047959 LY6H lymphocyte antigen 6 family member H gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1323593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 12047959 LY6H lymphocyte antigen 6 family member H gene DOID:4621 holoprosencephaly ISO RGD:1323593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12047959 LY6H lymphocyte antigen 6 family member H gene DOID:630 genetic disease ISO RGD:1323593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12047970 TRAPPC1 trafficking protein particle complex subunit 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1322784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12047970 TRAPPC1 trafficking protein particle complex subunit 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1322784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12047970 TRAPPC1 trafficking protein particle complex subunit 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1322784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12047970 TRAPPC1 trafficking protein particle complex subunit 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1322784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12047970 TRAPPC1 trafficking protein particle complex subunit 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1322784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 12047979 FOXJ3 forkhead box J3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1323400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12047979 FOXJ3 forkhead box J3 gene DOID:630 genetic disease ISO RGD:1323400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048006 TMEM192 transmembrane protein 192 gene DOID:630 genetic disease ISO RGD:1602829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048016 LOC100971476 olfactory receptor 6M1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1344052 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12048016 LOC100971476 olfactory receptor 6M1 gene DOID:5419 schizophrenia ISO RGD:1344052 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12048016 LOC100971476 olfactory receptor 6M1 gene DOID:630 genetic disease ISO RGD:1344052 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048016 LOC100971476 olfactory receptor 6M1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1344052 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12048016 LOC100971476 olfactory receptor 6M1 gene DOID:9007661 Dwarfism ISO RGD:1344052 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12048029 STUB1 STIP1 homology and U-box containing protein 1 gene DOID:0080029 autosomal recessive spinocerebellar ataxia 16 ISO RGD:1314629 D RGD:7240710 20180130 OMIM 12048029 STUB1 STIP1 homology and U-box containing protein 1 gene DOID:0080029 autosomal recessive spinocerebellar ataxia 16 ISO RGD:1314629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 PMID:24113144|PMID:24312598|PMID:24719489|PMID:24742043|PMID:25258038|PMID:25741868|PMID:28193272|PMID:28193273|PMID:28396517|PMID:28444220|PMID:28492532|PMID:29317501|PMID:29915382|PMID:31571321|PMID:32367277|PMID:33097556|PMID:33417001|PMID:34234304 12048029 STUB1 STIP1 homology and U-box containing protein 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1314629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12048029 STUB1 STIP1 homology and U-box containing protein 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1314629 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12048029 STUB1 STIP1 homology and U-box containing protein 1 gene DOID:0111746 cerebellar ataxia type 48 ISO RGD:1314629 D RGD:7240710 20190315 OMIM 12048029 STUB1 STIP1 homology and U-box containing protein 1 gene DOID:0111746 cerebellar ataxia type 48 ISO RGD:1314629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 48 PMID:24719489|PMID:25258038|PMID:25741868|PMID:28492532|PMID:30381368|PMID:31126790|PMID:31571321|PMID:32488064|PMID:34070858 12048029 STUB1 STIP1 homology and U-box containing protein 1 gene DOID:1826 epilepsy ISO RGD:1314629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12048029 STUB1 STIP1 homology and U-box containing protein 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1314629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12048029 STUB1 STIP1 homology and U-box containing protein 1 gene DOID:630 genetic disease ISO RGD:1314629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24719489|PMID:25741868|PMID:28193272|PMID:28193273|PMID:28396517|PMID:28444220|PMID:28492532|PMID:29317501|PMID:29915382|PMID:32367277|PMID:33097556|PMID:33417001|PMID:34234304 12048029 STUB1 STIP1 homology and U-box containing protein 1 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1314629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12048046 TMEM44 transmembrane protein 44 gene DOID:630 genetic disease ISO RGD:1344878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048083 HSCB HscB mitochondrial iron-sulfur cluster cochaperone gene DOID:0111252 neurofibromatosis 2 ISO RGD:1602295 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 12048083 HSCB HscB mitochondrial iron-sulfur cluster cochaperone gene DOID:630 genetic disease ISO RGD:1602295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048083 HSCB HscB mitochondrial iron-sulfur cluster cochaperone gene DOID:9001737 Sideroblastic Anemia 5 ISO RGD:1602295 D RGD:7240710 20210929 OMIM 12048083 HSCB HscB mitochondrial iron-sulfur cluster cochaperone gene DOID:9001737 Sideroblastic Anemia 5 ISO RGD:1602295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia, sideroblastic, 5 PMID:32634119 12048083 HSCB HscB mitochondrial iron-sulfur cluster cochaperone gene DOID:9008952 Breast Cancer, Familial ISO RGD:1602295 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 12048099 CDC42EP3 CDC42 effector protein 3 gene DOID:0080690 RASopathy ISO RGD:1314141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12048099 CDC42EP3 CDC42 effector protein 3 gene DOID:630 genetic disease ISO RGD:1314141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048107 ASB15 ankyrin repeat and SOCS box containing 15 gene DOID:4450 renal cell carcinoma ISO RGD:1346506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 12048107 ASB15 ankyrin repeat and SOCS box containing 15 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12048107 ASB15 ankyrin repeat and SOCS box containing 15 gene DOID:630 genetic disease ISO RGD:1346506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048132 MB myoglobin gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1354197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12048132 MB myoglobin gene DOID:0080600 COVID-19 severity ISO RGD:1354197 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:32125452|REF_RGD_ID:27095965 12048132 MB myoglobin gene DOID:0080600 COVID-19 severity ISO RGD:1354197 D RGD:9068941 20200625 RGD associated with hyperglycemia;protein:increased expression:serum (human) PMID:32406594|REF_RGD_ID:32698682 12048132 MB myoglobin gene DOID:3021 acute kidney failure ISO RGD:1354197 D RGD:9068941 20200609 RGD protein: increased expression: serum PMID:23497406|REF_RGD_ID:7244253 12048132 MB myoglobin gene DOID:3021 acute kidney failure ISO RGD:620411 D RGD:9068941 20200609 RGD PMID:9822635|REF_RGD_ID:7244259 12048132 MB myoglobin gene DOID:630 genetic disease ISO RGD:1354197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048132 MB myoglobin gene DOID:9000528 Coronary Disease severity ISO RGD:1354197 D RGD:9068941 20200609 RGD PMID:15976963|REF_RGD_ID:1582388 12048132 MB myoglobin gene DOID:9000921 Crush Syndrome ISO RGD:620411 D RGD:9068941 20200609 RGD PMID:12558149|REF_RGD_ID:1582428 12048132 MB myoglobin gene DOID:9002669 Hypoxia ISO RGD:620411 D RGD:9068941 20200609 RGD PMID:12530625|REF_RGD_ID:1582429 12048132 MB myoglobin gene DOID:9004009 Reperfusion Injury ISO RGD:1354197 D RGD:9068941 20200609 RGD PMID:12788661|REF_RGD_ID:1582427 12048132 MB myoglobin gene DOID:9007102 Myocardial Ischemia ISO RGD:620411 D RGD:9068941 20200609 RGD PMID:12935692|REF_RGD_ID:1582426 12048132 MB myoglobin gene DOID:9007102 Myocardial Ischemia susceptibility ISO RGD:1354197 D RGD:9068941 20200609 RGD PMID:15762290|REF_RGD_ID:1582393 12048132 MB myoglobin gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1552831 D RGD:9068941 20200609 RGD PMID:15132981|REF_RGD_ID:1582385 12048132 MB myoglobin gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620411 D RGD:9068941 20200609 RGD PMID:11972171|REF_RGD_ID:1582431 12048132 MB myoglobin gene DOID:9007848 Sarcoplasmic Body Myopathy ISO RGD:1354197 D RGD:7240710 20230505 OMIM 12048132 MB myoglobin gene DOID:9007848 Sarcoplasmic Body Myopathy ISO RGD:1354197 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, sarcoplasmic body PMID:25741868|PMID:30918256|PMID:34679218|PMID:35527200|PMID:6251174 12048147 IL25 interleukin 25 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1344819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12048147 IL25 interleukin 25 gene DOID:10808 gastric ulcer treatment ISO RGD:1561632 D RGD:9068941 20201218 RGD PMID:26054198|REF_RGD_ID:40902976 12048147 IL25 interleukin 25 gene DOID:2841 asthma ISO RGD:1557614 D RGD:9068941 20201218 RGD mRNA, protein:increased expression:lung PMID:25273095|REF_RGD_ID:39128256 12048147 IL25 interleukin 25 gene DOID:3310 atopic dermatitis ISO RGD:1344819 D RGD:9068941 20201218 RGD protein:increased expression:arm skin PMID:23657503|REF_RGD_ID:39128244 12048147 IL25 interleukin 25 gene DOID:630 genetic disease ISO RGD:1344819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048147 IL25 interleukin 25 gene DOID:8893 psoriasis ISO RGD:1344819 D RGD:9068941 20201218 RGD protein:increased expression:arm skin PMID:23657503|REF_RGD_ID:39128244 12048147 IL25 interleukin 25 gene DOID:9000099 Experimental Colitis treatment ISO RGD:1557614 D RGD:9068941 20201218 RGD PMID:19118508|REF_RGD_ID:39456129 12048147 IL25 interleukin 25 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1344819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 12048147 IL25 interleukin 25 gene DOID:9000917 Amoebic Dysentery due to Entamoeba Histolytica ISO RGD:1344819 D RGD:9068941 20201218 RGD protein:decreased expression:intestine PMID:28246365|REF_RGD_ID:39128243 12048147 IL25 interleukin 25 gene DOID:9000917 Amoebic Dysentery due to Entamoeba Histolytica ISO RGD:1557614 D RGD:9068941 20201218 RGD protein:decreased expression:intestine PMID:28246365|REF_RGD_ID:39128243 12048147 IL25 interleukin 25 gene DOID:9003470 Picornaviridae Infections ISO RGD:1344819 D RGD:9068941 20201218 RGD protein:increased expression:nasal mucus PMID:25273095|REF_RGD_ID:39128256 12048147 IL25 interleukin 25 gene DOID:9003470 Picornaviridae Infections ISO RGD:1557614 D RGD:9068941 20201218 RGD mRNA, protein:increased expression:lung PMID:25273095|REF_RGD_ID:39128256 12048147 IL25 interleukin 25 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1344819 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12048147 IL25 interleukin 25 gene DOID:9415 allergic asthma treatment ISO RGD:1557614 D RGD:9068941 20201218 RGD PMID:17889290|REF_RGD_ID:40902975 12048157 SKOR2 SKI family transcriptional corepressor 2 gene DOID:0060356 Vici syndrome ISO RGD:3160638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 12048157 SKOR2 SKI family transcriptional corepressor 2 gene DOID:1059 intellectual disability ISO RGD:3160638 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12048157 SKOR2 SKI family transcriptional corepressor 2 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:3160638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 12048163 ARL14EP ADP ribosylation factor like GTPase 14 effector protein gene DOID:1059 intellectual disability ISO RGD:1602076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12048163 ARL14EP ADP ribosylation factor like GTPase 14 effector protein gene DOID:630 genetic disease ISO RGD:1602076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048163 ARL14EP ADP ribosylation factor like GTPase 14 effector protein gene DOID:9008086 Developmental Disabilities ISO RGD:1602076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065|PMID:25741868 12048184 RRP12 ribosomal RNA processing 12 homolog gene DOID:630 genetic disease ISO RGD:1343951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048225 GIGYF1 GRB10 interacting GYF protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1320542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12048225 GIGYF1 GRB10 interacting GYF protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12048225 GIGYF1 GRB10 interacting GYF protein 1 gene DOID:630 genetic disease ISO RGD:1320542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048225 GIGYF1 GRB10 interacting GYF protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320542 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33057194|PMID:34234147|PMID:34732801 12048274 C15H15orf48 chromosome 15 C15orf48 homolog gene DOID:0050712 AGAT deficiency ISO RGD:1601736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 12048274 C15H15orf48 chromosome 15 C15orf48 homolog gene DOID:2717 Bloom syndrome ISO RGD:1601736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12048274 C15H15orf48 chromosome 15 C15orf48 homolog gene DOID:630 genetic disease ISO RGD:1601736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048274 C15H15orf48 chromosome 15 C15orf48 homolog gene DOID:9256 colorectal cancer ISO RGD:1601736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12048286 UTP25 UTP25 small subunit processome component gene DOID:10487 Hirschsprung's disease ISO RGD:1604367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25007945 12048286 UTP25 UTP25 small subunit processome component gene DOID:1540 parathyroid carcinoma ISO RGD:1604367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12048286 UTP25 UTP25 small subunit processome component gene DOID:630 genetic disease ISO RGD:1604367 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048286 UTP25 UTP25 small subunit processome component gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12048302 VWF von Willebrand factor gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1347936 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 12048302 VWF von Willebrand factor gene DOID:0050486 exanthem ISO RGD:1347936 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 12048302 VWF von Willebrand factor gene DOID:0050989 episodic ataxia type 1 ISO RGD:1347936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 12048302 VWF von Willebrand factor gene DOID:0060041 autism spectrum disorder ISO RGD:1347936 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12048302 VWF von Willebrand factor gene DOID:0060224 atrial fibrillation ISO RGD:1347936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17890461 12048302 VWF von Willebrand factor gene DOID:0060224 atrial fibrillation treatment ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:21497043|REF_RGD_ID:7205648 12048302 VWF von Willebrand factor gene DOID:0060573 von Willebrand's disease 1 ISO RGD:1347936 D RGD:7240710 20180130 OMIM 12048302 VWF von Willebrand factor gene DOID:0060573 von Willebrand's disease 1 ISO RGD:1347936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: VWD, TYPE 1 | ClinVar Annotator: match by term: von Willebrand disease type 1 | ClinVar Annotator: match by term: von Willebrand disease, type 1, susceptibility to PMID:10669167|PMID:10845912|PMID:10959712|PMID:11057846|PMID:11159522|PMID:11325649|PMID:11686103|PMID:11698279|PMID:11756169|PMID:11776047|PMID:12043692|PMID:12176890|PMID:12211196|PMID:12551832|PMID:12588349|PMID:12649144|PMID:12737944|PMID:1301136|PMID:1302613|PMID:1415226|PMID:14525793|PMID:14613933|PMID:15461624|PMID:15670054|PMID:15755288|PMID:1581215|PMID:15842375|PMID:16115133|PMID:16321553|PMID:16706266|PMID:1672694|PMID:16870550|PMID:16889557|PMID:16894469|PMID:16925796|PMID:16953269|PMID:16985174|PMID:17080221|PMID:17087728|PMID:17119126|PMID:17190853|PMID:17200787|PMID:17296575|PMID:1729889|PMID:18162126|PMID:18230755|PMID:18315546|PMID:18315556|PMID:1832934|PMID:18344424|PMID:18384353|PMID:18485763|PMID:18510569|PMID:18712522|PMID:18805962|PMID:18841300|PMID:19060241|PMID:1906877|PMID:1918030|PMID:19277422|PMID:19372260|PMID:19404524|PMID:19431182|PMID:19506353|PMID:19506354|PMID:19506361|PMID:19566550|PMID:19624459|PMID:19687512|PMID:19943880|PMID:19951969|PMID:2010538|PMID:20118404|PMID:20147343|PMID:20231421|PMID:20301765|PMID:20305138|PMID:20351307|PMID:20371742|PMID:20409624|PMID:20418283|PMID:20492463|PMID:20586924|PMID:20682599|PMID:20838735|PMID:20851871|PMID:20981092|PMID:21251206|PMID:21346256|PMID:21362127|PMID:21371195|PMID:21410641|PMID:21429375|PMID:21534937|PMID:21711445|PMID:21794096|PMID:22102201|PMID:22102206|PMID:22197721|PMID:22315491|PMID:22329792|PMID:22431572|PMID:22507569|PMID:22578129|PMID:22871923|PMID:22875612|PMID:22995991|PMID:23179108|PMID:23216583|PMID:23340442|PMID:23349392|PMID:23354996|PMID:23355534|PMID:23407766|PMID:23426949|PMID:23520336|PMID:23636243|PMID:23648131|PMID:23690449|PMID:23702511|PMID:23775583|PMID:23777763|PMID:23834637|PMID:23886775|PMID:24029428|PMID:24033266|PMID:24337418|PMID:24598842|PMID:24675615|PMID:24712919|PMID:24928861|PMID:24954083|PMID:25103891|PMID:25185554|PMID:25564403|PMID:25662333|PMID:25689060|PMID:25696906|PMID:25741868|PMID:25741869|PMID:25753785|PMID:25779970|PMID:25780857|PMID:26200876|PMID:26206100|PMID:26207643|PMID:26270243|PMID:26456374|PMID:26467025|PMID:26764160|PMID:26827609|PMID:26879396|PMID:26917779|PMID:26986123|PMID:26988807|PMID:27007659|PMID:27320760|PMID:27353798|PMID:27380589|PMID:27443694|PMID:27483487|PMID:27532107|PMID:27533707|PMID:27535533|PMID:27596108|PMID:27683759|PMID:27785872|PMID:27885890|PMID:27889474|PMID:27913545|PMID:27978591|PMID:28060120|PMID:28091443|PMID:28492532|PMID:28536718|PMID:28581694|PMID:28640903|PMID:28692141|PMID:28916584|PMID:28924049|PMID:28971901|PMID:29220693|PMID:29388750|PMID:29423401|PMID:29590070|PMID:29742318|PMID:29924855|PMID:29984440|PMID:30046704|PMID:30358069|PMID:30361419|PMID:30488424|PMID:30565388|PMID:30690834|PMID:30722078|PMID:30817071|PMID:31026269|PMID:31064749|PMID:31249928|PMID:31349985|PMID:31605304|PMID:31887760|PMID:31968368|PMID:32108991|PMID:3257148|PMID:32581362|PMID:3259690|PMID:32609846|PMID:32722784|PMID:32935436|PMID:33113216|PMID:33477601|PMID:33536631|PMID:33550700|PMID:33556167|PMID:34272389|PMID:34355501|PMID:34596727|PMID:34708896|PMID:34758185|PMID:34828413|PMID:3487353|PMID:3488775|PMID:35505650|PMID:6696046|PMID:7620154|PMID:7734373|PMID:8088787|PMID:8134377|PMID:8165603|PMID:8367445|PMID:8456430|PMID:8456432|PMID:8486782|PMID:8500791|PMID:8562925|PMID:8839833|PMID:8865544|PMID:9198195|PMID:9253800|PMID:9473222|PMID:9684781|PMID:9723578 12048302 VWF von Willebrand factor gene DOID:0060574 von Willebrand's disease 2 ISO RGD:1347936 D RGD:7240710 20180130 OMIM 12048302 VWF von Willebrand factor gene DOID:0060574 von Willebrand's disease 2 ISO RGD:1347936 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: VON WILLEBRAND FACTOR POLYMORPHISM | ClinVar Annotator: match by term: Von Willebrand disease type 2A | ClinVar Annotator: match by term: Von Willebrand disease type 2B | ClinVar Annotator: match by term: von Willebrand disease type 2 | ClinVar Annotator: match by term: von Willebrand disease type 2M | ClinVar Annotator: match by term: von Willebrand disease type 2N PMID:10845912|PMID:10959712|PMID:11150026|PMID:11159522|PMID:11325649|PMID:11583318|PMID:11686103|PMID:11686104|PMID:11698279|PMID:11776047|PMID:11843298|PMID:12080112|PMID:12176890|PMID:12211196|PMID:12393698|PMID:12406074|PMID:12588349|PMID:12588351|PMID:12649144|PMID:12737944|PMID:1324533|PMID:1380739|PMID:1409710|PMID:1419803|PMID:1419804|PMID:14525793|PMID:15041272|PMID:15226181|PMID:15249683|PMID:15297300|PMID:1537829|PMID:15461624|PMID:1557393|PMID:15670054|PMID:15755288|PMID:1581215|PMID:15842375|PMID:16115133|PMID:16221672|PMID:16246252|PMID:16247740|PMID:16321553|PMID:16322474|PMID:16706266|PMID:1672694|PMID:1673047|PMID:16870550|PMID:16889557|PMID:16894469|PMID:16953269|PMID:16985174|PMID:17000885|PMID:17080221|PMID:17087728|PMID:17090649|PMID:17119126|PMID:17155947|PMID:17190853|PMID:17296575|PMID:1729889|PMID:17408416|PMID:17598021|PMID:1761120|PMID:17681836|PMID:18036186|PMID:18162126|PMID:18230755|PMID:18315546|PMID:18315556|PMID:1832934|PMID:18344424|PMID:18384353|PMID:18485763|PMID:18510569|PMID:18647226|PMID:18712522|PMID:18725999|PMID:18805962|PMID:18841300|PMID:18986390|PMID:19060241|PMID:1906179|PMID:1906877|PMID:1918030|PMID:19277422|PMID:19404524|PMID:19431182|PMID:19453940|PMID:19506354|PMID:19506361|PMID:19506362|PMID:19566550|PMID:19624459|PMID:19630771|PMID:19687512|PMID:19740526|PMID:19943880|PMID:19951969|PMID:2010538|PMID:2011604|PMID:20118404|PMID:2018834|PMID:20200350|PMID:20231421|PMID:20301765|PMID:20305138|PMID:20335223|PMID:20345715|PMID:20351307|PMID:20371742|PMID:20409624|PMID:20492463|PMID:20586924|PMID:20682599|PMID:20713003|PMID:20838735|PMID:20851871|PMID:20981092|PMID:2104761|PMID:21251206|PMID:21346256|PMID:21371195|PMID:21410641|PMID:21429375|PMID:21534937|PMID:21711445|PMID:21794096|PMID:21967679|PMID:22077376|PMID:22102201|PMID:22197721|PMID:22315491|PMID:22329792|PMID:22372972|PMID:22431572|PMID:22473027|PMID:22507569|PMID:22578129|PMID:22871923|PMID:22875612|PMID:22995991|PMID:23110044|PMID:23179108|PMID:23216583|PMID:23322777|PMID:23340442|PMID:23349392|PMID:23354996|PMID:23355534|PMID:23406206|PMID:23407766|PMID:23426949|PMID:23520336|PMID:23636243|PMID:23690449|PMID:23702511|PMID:23775583|PMID:23777763|PMID:23819767|PMID:2385594|PMID:23886775|PMID:24029428|PMID:24033266|PMID:24337418|PMID:24351655|PMID:24385719|PMID:24598842|PMID:24675615|PMID:24712919|PMID:24928861|PMID:25051961|PMID:25103891|PMID:25185554|PMID:25293780|PMID:25431025|PMID:25477497|PMID:2557900|PMID:25662333|PMID:25689060|PMID:25696906|PMID:25728415|PMID:25741868|PMID:25753785|PMID:25779970|PMID:25780857|PMID:25851809|PMID:26200876|PMID:26206100|PMID:26207643|PMID:26210168|PMID:26270243|PMID:26345337|PMID:26456374|PMID:26467025|PMID:26764160|PMID:26827609|PMID:26879396|PMID:26917779|PMID:26986123|PMID:26988807|PMID:27007659|PMID:27029718|PMID:27214365|PMID:27317792|PMID:27353798|PMID:27380589|PMID:27443694|PMID:27483487|PMID:27532107|PMID:27533707|PMID:27535533|PMID:27596108|PMID:27683759|PMID:27766062|PMID:27785872|PMID:2786201|PMID:27885890|PMID:27889474|PMID:27913545|PMID:27978591|PMID:28060120|PMID:28083987|PMID:28091443|PMID:28492532|PMID:28536718|PMID:28581694|PMID:28640903|PMID:28692141|PMID:28916584|PMID:28924049|PMID:28971901|PMID:29186156|PMID:29220693|PMID:29388750|PMID:29590070|PMID:29742318|PMID:29924503|PMID:29924855|PMID:29984440|PMID:30046704|PMID:30358069|PMID:30488424|PMID:30565388|PMID:30690834|PMID:30722078|PMID:30792900|PMID:30817071|PMID:31026269|PMID:31064749|PMID:31249928|PMID:3132965|PMID:31349985|PMID:31423628|PMID:31887760|PMID:31939074|PMID:31968368|PMID:32108991|PMID:32581362|PMID:3259690|PMID:32609846|PMID:32722784|PMID:33113216|PMID:33477601|PMID:33536631|PMID:33550700|PMID:33556167|PMID:34272389|PMID:34355501|PMID:34596727|PMID:34708896|PMID:34758185|PMID:34828413|PMID:3487353|PMID:3488775|PMID:6426499|PMID:6696046|PMID:6767976|PMID:6773982|PMID:7620154|PMID:7734373|PMID:7789955|PMID:7906590|PMID:8088787|PMID:8134377|PMID:8435341|PMID:8456431|PMID:8456432|PMID:8486782 12048302 VWF von Willebrand factor gene DOID:0060574 von Willebrand's disease 2 ISO RGD:1347936 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: VON WILLEBRAND FACTOR POLYMORPHISM | ClinVar Annotator: match by term: Von Willebrand disease type 2A | ClinVar Annotator: match by term: Von Willebrand disease type 2B | ClinVar Annotator: match by term: von Willebrand disease type 2 | ClinVar Annotator: match by term: von Willebrand disease type 2M | ClinVar Annotator: match by term: von Willebrand disease type 2N PMID:8500791|PMID:8562925|PMID:8621553|PMID:8622978|PMID:8630394|PMID:8839833|PMID:8865541|PMID:8865544|PMID:9058716|PMID:9108394|PMID:9198195|PMID:9308766|PMID:9569179|PMID:9684781|PMID:9723578 12048302 VWF von Willebrand factor gene DOID:0060574 von Willebrand's disease 2 treatment ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:20589313|REF_RGD_ID:11079203 12048302 VWF von Willebrand factor gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1347936 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12048302 VWF von Willebrand factor gene DOID:0060903 thrombosis ISO RGD:1347936 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombus PMID:12649144|PMID:14525793|PMID:15755288|PMID:15842375|PMID:16985174|PMID:17080221|PMID:17119126|PMID:17190853|PMID:18162126|PMID:18510569|PMID:19506354|PMID:20409624|PMID:20682599|PMID:21346256|PMID:22197721|PMID:23355534|PMID:23426949|PMID:24033266|PMID:24928861|PMID:25103891|PMID:25741868|PMID:25780857|PMID:26467025|PMID:27380589|PMID:27596108|PMID:28091443|PMID:28971901|PMID:30722078|PMID:30817071|PMID:31887760|PMID:31968368|PMID:32108991|PMID:32609846|PMID:33113216|PMID:33477601|PMID:33536631|PMID:34355501|PMID:34596727|PMID:34708896|PMID:34828413 12048302 VWF von Willebrand factor gene DOID:0111054 von Willebrand's disease 3 ISO RGD:1347936 D RGD:7240710 20180130 OMIM 12048302 VWF von Willebrand factor gene DOID:0111054 von Willebrand's disease 3 ISO RGD:1347936 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: von Willebrand disease type 3 PMID:10959712|PMID:11057846|PMID:12588349|PMID:1301136|PMID:1302613|PMID:1415226|PMID:16115133|PMID:16321553|PMID:16643449|PMID:16894469|PMID:16985174|PMID:17080221|PMID:17190853|PMID:17296575|PMID:18315546|PMID:18344424|PMID:18485763|PMID:18805962|PMID:18841300|PMID:19372260|PMID:19404524|PMID:19431182|PMID:19506361|PMID:19566550|PMID:19624459|PMID:20147343|PMID:20231421|PMID:20492463|PMID:20851871|PMID:21251206|PMID:21362127|PMID:21371195|PMID:21410641|PMID:21534937|PMID:21711445|PMID:22102201|PMID:22102206|PMID:22197721|PMID:22315491|PMID:22431572|PMID:22871923|PMID:22995991|PMID:23179108|PMID:23216583|PMID:23311757|PMID:23340442|PMID:23354996|PMID:23407766|PMID:23636243|PMID:23647798|PMID:23690449|PMID:23702511|PMID:23775583|PMID:23777763|PMID:23834637|PMID:23886775|PMID:24033266|PMID:24675615|PMID:24712919|PMID:24954083|PMID:25741868|PMID:25779970|PMID:26270243|PMID:26467025|PMID:26986123|PMID:26988807|PMID:27007659|PMID:28492532|PMID:28971901|PMID:29220693|PMID:29423401|PMID:29590070|PMID:30488424|PMID:30690834|PMID:31026269|PMID:31064749|PMID:32581362|PMID:32722784|PMID:33550700|PMID:33556167|PMID:34298581|PMID:34355501|PMID:34758185|PMID:35505650|PMID:7989040|PMID:8134377|PMID:8165603|PMID:8367445|PMID:8562925|PMID:9569178 12048302 VWF von Willebrand factor gene DOID:10159 osteonecrosis ISO RGD:1347936 D RGD:9068941 20200625 RGD associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human) PMID:16547717|REF_RGD_ID:30309948 12048302 VWF von Willebrand factor gene DOID:10763 hypertension ISO RGD:1347936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12149661|PMID:12425201|PMID:22352330 12048302 VWF von Willebrand factor gene DOID:10763 hypertension treatment ISO RGD:621759 D RGD:9068941 20200609 RGD associated with Experimental Diabetes Mellitus PMID:14737039|REF_RGD_ID:1601646 12048302 VWF von Willebrand factor gene DOID:10941 intracranial aneurysm ISO RGD:1347936 D RGD:9068941 20230202 RGD protein:increased expression:serum, artery PMID:32602008|REF_RGD_ID:155882593 12048302 VWF von Willebrand factor gene DOID:12134 factor VIII deficiency ISO RGD:1347936 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Factor VIII deficiency, congenital PMID:25741868 12048302 VWF von Willebrand factor gene DOID:12134 factor VIII deficiency treatment ISO RGD:1553644 D RGD:9068941 20200609 RGD PMID:25955153|REF_RGD_ID:11073776 12048302 VWF von Willebrand factor gene DOID:1247 blood coagulation disease ISO RGD:1347936 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormality of coagulation PMID:11686103|PMID:12176890|PMID:12211196|PMID:1419803|PMID:15041272|PMID:15461624|PMID:1557393|PMID:15670054|PMID:1581215|PMID:16115133|PMID:16321553|PMID:16706266|PMID:1672694|PMID:16953269|PMID:16985174|PMID:17190853|PMID:1832934|PMID:18712522|PMID:1906877|PMID:1918030|PMID:19506353|PMID:19740526|PMID:2010538|PMID:20301765|PMID:20409624|PMID:20586924|PMID:20981092|PMID:21371195|PMID:21534937|PMID:22077376|PMID:22197721|PMID:22507569|PMID:22875612|PMID:23426949|PMID:23636243|PMID:23648131|PMID:23819767|PMID:24029428|PMID:24033266|PMID:24928861|PMID:25662333|PMID:25741868|PMID:26207643|PMID:26467025|PMID:26764160|PMID:27029718|PMID:27320760|PMID:27913545|PMID:28581694|PMID:28916584|PMID:28971901|PMID:29590070|PMID:29924855|PMID:30046704|PMID:30565388|PMID:30690834|PMID:30722078|PMID:31064749|PMID:31249928|PMID:31349985|PMID:33556167|PMID:34355501|PMID:6773982|PMID:8456432|PMID:8500791|PMID:8630394|PMID:8865544|PMID:9684781|PMID:9723578 12048302 VWF von Willebrand factor gene DOID:12531 von Willebrand's disease ISO RGD:1347936 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: von Willebrand disorder | ClinVar Annotator: match by term: von Willebrand's disease PMID:10669167|PMID:10845912|PMID:10959712|PMID:11057846|PMID:11150026|PMID:11159522|PMID:11325649|PMID:11583318|PMID:11686103|PMID:11686104|PMID:11756169|PMID:11776047|PMID:11843298|PMID:12043692|PMID:12080112|PMID:12176890|PMID:12211196|PMID:12551832|PMID:12649144|PMID:12737944|PMID:1301136|PMID:1302613|PMID:1324533|PMID:1380739|PMID:1415226|PMID:1419803|PMID:14525793|PMID:14613933|PMID:15041272|PMID:15226181|PMID:15249683|PMID:15297300|PMID:1537829|PMID:15461624|PMID:1557393|PMID:15670054|PMID:15755288|PMID:1581215|PMID:15842375|PMID:16115133|PMID:16221672|PMID:16246252|PMID:16247740|PMID:16321553|PMID:16322474|PMID:16706266|PMID:1672694|PMID:1673047|PMID:16870550|PMID:16889557|PMID:16925796|PMID:16953269|PMID:16985174|PMID:17000885|PMID:17080221|PMID:17087728|PMID:17119126|PMID:17155947|PMID:17190853|PMID:17200787|PMID:17296575|PMID:1729889|PMID:17408416|PMID:1761120|PMID:17681836|PMID:18036186|PMID:18162126|PMID:18230755|PMID:18315546|PMID:18315556|PMID:1832934|PMID:18344424|PMID:18384353|PMID:18449422|PMID:18485763|PMID:18510569|PMID:18712522|PMID:18805962|PMID:18841300|PMID:18986390|PMID:19060241|PMID:1906179|PMID:1906877|PMID:1918030|PMID:19277422|PMID:19372260|PMID:19404524|PMID:19470641|PMID:19506353|PMID:19506354|PMID:19506361|PMID:19566550|PMID:19630771|PMID:19630772|PMID:19687512|PMID:19740526|PMID:19951969|PMID:2010538|PMID:20118404|PMID:20147343|PMID:2018834|PMID:20230424|PMID:20231421|PMID:20301765|PMID:20305138|PMID:20345715|PMID:20351307|PMID:20371742|PMID:20409624|PMID:20418283|PMID:20492463|PMID:20586924|PMID:20590881|PMID:20682599|PMID:20713003|PMID:20838735|PMID:20981092|PMID:2104761|PMID:21251206|PMID:21346256|PMID:21362127|PMID:21371195|PMID:21393328|PMID:21410641|PMID:21429375|PMID:21534937|PMID:21711445|PMID:21794096|PMID:21967679|PMID:22077376|PMID:22102201|PMID:22102206|PMID:22197721|PMID:22315491|PMID:22329792|PMID:22372972|PMID:22431572|PMID:22473027|PMID:22507569|PMID:22537243|PMID:22578129|PMID:22871923|PMID:22875612|PMID:22995991|PMID:23110044|PMID:23179108|PMID:23216583|PMID:23311757|PMID:23322777|PMID:23335371|PMID:23340442|PMID:23349392|PMID:23354996|PMID:23355534|PMID:23406206|PMID:23407766|PMID:23426949|PMID:23520336|PMID:23636243|PMID:23647798|PMID:23648131|PMID:23690449|PMID:23702511|PMID:23775583|PMID:23819767|PMID:23834637|PMID:2385594|PMID:23886775|PMID:24029428|PMID:24033266|PMID:24351655|PMID:24385719|PMID:24482836|PMID:24598842|PMID:24675615|PMID:24712919|PMID:24800796|PMID:24928861|PMID:25051961|PMID:25103891|PMID:25185554|PMID:25293780|PMID:25431025|PMID:25477497|PMID:25662333|PMID:25689060|PMID:25690668|PMID:25696906|PMID:25741868|PMID:25753785|PMID:25779970|PMID:25780857|PMID:25851809|PMID:26200876|PMID:26206100|PMID:26207643|PMID:26210168|PMID:26345337|PMID:26456374|PMID:26467025|PMID:26764160|PMID:26827609|PMID:26879396|PMID:26917779|PMID:26986123|PMID:26988807|PMID:27029718|PMID:27214365|PMID:27317792|PMID:27320760|PMID:27353798|PMID:27380589|PMID:27443694|PMID:27483487|PMID:27532107|PMID:27533707|PMID:27596108|PMID:27683759|PMID:27766062|PMID:27785872|PMID:2786201|PMID:27885890|PMID:27889474|PMID:27913545|PMID:27978591|PMID:28060120|PMID:28083987|PMID:28091443|PMID:28492532|PMID:28536718|PMID:28581694|PMID:28640903|PMID:28692141|PMID:28916584|PMID:28924049|PMID:28971901|PMID:29186156|PMID:29388750|PMID:29423401|PMID:29742318|PMID:29924503|PMID:29924855|PMID:29984440|PMID:30046704|PMID:30358069|PMID:30488424|PMID:30565388|PMID:30690834|PMID:30722078|PMID:30792900|PMID:30817071|PMID:31026269|PMID:31064749|PMID:31249928|PMID:31349985|PMID:31887760|PMID:31939074|PMID:31968368|PMID:32108991|PMID:3257148|PMID:32581362|PMID:3259690|PMID:32609846|PMID:32935436|PMID:33113216|PMID:33477601|PMID:33536631|PMID:33550700|PMID:33556167|PMID:33618961|PMID:33807613|PMID:34272389|PMID:34355501|PMID:34596727|PMID:34662354|PMID:34708896|PMID:34714369|PMID:34828413|PMID:3487353|PMID:3488775|PMID:35505650|PMID:6696046|PMID:6773982|PMID:7620154|PMID:7734373|PMID:7906590|PMID:8088787|PMID:8134377 12048302 VWF von Willebrand factor gene DOID:12531 von Willebrand's disease ISO RGD:1347936 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: von Willebrand disorder | ClinVar Annotator: match by term: von Willebrand's disease PMID:8165603|PMID:8367445|PMID:8456430|PMID:8456431|PMID:8456432|PMID:8486782|PMID:8500791|PMID:8562925|PMID:8621553|PMID:8630394|PMID:8865541|PMID:8865544|PMID:9058716|PMID:9198195|PMID:9253800|PMID:9308766|PMID:9473222|PMID:9684781|PMID:9723578 12048302 VWF von Willebrand factor gene DOID:12531 von Willebrand's disease treatment ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:26239086|REF_RGD_ID:11079196 12048302 VWF von Willebrand factor gene DOID:1287 cardiovascular system disease ISO RGD:1347936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16332659 12048302 VWF von Willebrand factor gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:22295953|REF_RGD_ID:7207031 12048302 VWF von Willebrand factor gene DOID:13241 Behcet's disease ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:15849757|REF_RGD_ID:1580642 12048302 VWF von Willebrand factor gene DOID:13809 familial combined hyperlipidemia ISO RGD:1347936 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:18417194|REF_RGD_ID:13207412 12048302 VWF von Willebrand factor gene DOID:1588 thrombocytopenia ISO RGD:1347936 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:16985174|PMID:18315556|PMID:19506361|PMID:25741868|PMID:31064749 12048302 VWF von Willebrand factor gene DOID:2213 hemorrhagic disease ISO RGD:1347936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:10845912|PMID:11686103|PMID:11776047|PMID:12176890|PMID:12211196|PMID:1301136|PMID:1302613|PMID:15461624|PMID:15670054|PMID:1581215|PMID:16706266|PMID:16953269|PMID:16985174|PMID:17087728|PMID:17190853|PMID:17200787|PMID:17681836|PMID:18230755|PMID:18315556|PMID:1832934|PMID:18384353|PMID:18712522|PMID:18805962|PMID:1906179|PMID:1906877|PMID:1918030|PMID:19277422|PMID:19404524|PMID:19566550|PMID:19951969|PMID:2018834|PMID:20301765|PMID:20409624|PMID:20586924|PMID:20981092|PMID:2104761|PMID:21371195|PMID:21429375|PMID:22197721|PMID:22315491|PMID:22329792|PMID:22578129|PMID:22875612|PMID:23340442|PMID:23349392|PMID:23426949|PMID:23636243|PMID:23648131|PMID:24029428|PMID:24033266|PMID:24700780|PMID:24928861|PMID:25185554|PMID:25696906|PMID:25741868|PMID:26200876|PMID:26207643|PMID:26467025|PMID:26764160|PMID:26879396|PMID:26986123|PMID:26988807|PMID:27320760|PMID:27443694|PMID:27483487|PMID:28581694|PMID:28971901|PMID:29924855|PMID:30358069|PMID:31064749|PMID:31249928|PMID:31349985|PMID:32935436|PMID:34272389|PMID:34355501|PMID:34662354|PMID:7620154|PMID:7734373|PMID:8165603|PMID:8367445|PMID:8500791|PMID:8865544|PMID:9684781 12048302 VWF von Willebrand factor gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:14717981|REF_RGD_ID:1580643 12048302 VWF von Willebrand factor gene DOID:2224 essential thrombocythemia ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:25876231|REF_RGD_ID:11073823 12048302 VWF von Willebrand factor gene DOID:224 transient cerebral ischemia treatment ISO RGD:621759 D RGD:9068941 20200609 RGD PMID:22771326|REF_RGD_ID:7207039 12048302 VWF von Willebrand factor gene DOID:2945 severe acute respiratory syndrome ISO RGD:1553644 D RGD:9068941 20200625 RGD protein:increased expression:lung (mouse) PMID:23919993|REF_RGD_ID:30310231 12048302 VWF von Willebrand factor gene DOID:3312 bipolar disorder ISO RGD:1347936 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19839997|REF_RGD_ID:7207027 12048302 VWF von Willebrand factor gene DOID:3407 carotid artery disease ISO RGD:1347936 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:20439183|REF_RGD_ID:7207026 12048302 VWF von Willebrand factor gene DOID:3770 pulmonary fibrosis ISO RGD:621759 D RGD:9068941 20200609 RGD associated with Radiation Injuries;protein:increased expression:lung parenchyma PMID:8811296|REF_RGD_ID:11079207 12048302 VWF von Willebrand factor gene DOID:418 systemic scleroderma severity ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:22596213|REF_RGD_ID:7205639 12048302 VWF von Willebrand factor gene DOID:4193 intracranial thrombosis ISO RGD:1347936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3111251 12048302 VWF von Willebrand factor gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1347936 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21953673|REF_RGD_ID:7207032 12048302 VWF von Willebrand factor gene DOID:4783 mesangial proliferative glomerulonephritis ISO RGD:621759 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus: PMID:10450036|REF_RGD_ID:11079208 12048302 VWF von Willebrand factor gene DOID:5419 schizophrenia ISO RGD:1347936 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19839997|REF_RGD_ID:7207027 12048302 VWF von Willebrand factor gene DOID:5844 myocardial infarction ISO RGD:621759 D RGD:9068941 20200609 RGD protein:increased expression:heart: PMID:19435557|REF_RGD_ID:11080745 12048302 VWF von Willebrand factor gene DOID:6000 congestive heart failure ISO RGD:1347936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 12048302 VWF von Willebrand factor gene DOID:630 genetic disease ISO RGD:1347936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12649144|PMID:1324533|PMID:14525793|PMID:15755288|PMID:15842375|PMID:16322474|PMID:16985174|PMID:17080221|PMID:17119126|PMID:17190853|PMID:18162126|PMID:18510569|PMID:18986390|PMID:19277422|PMID:19506354|PMID:20409624|PMID:20492463|PMID:20682599|PMID:21346256|PMID:22197721|PMID:22372972|PMID:22871923|PMID:23322777|PMID:23355534|PMID:23426949|PMID:24033266|PMID:24928861|PMID:25103891|PMID:25741868|PMID:25780857|PMID:26467025|PMID:27214365|PMID:27380589|PMID:27596108|PMID:27766062|PMID:2786201|PMID:28091443|PMID:28971901|PMID:29186156|PMID:30722078|PMID:30817071|PMID:31026269|PMID:31064749|PMID:31887760|PMID:31968368|PMID:32108991|PMID:32609846|PMID:33113216|PMID:33477601|PMID:33536631|PMID:34355501|PMID:34596727|PMID:34708896|PMID:34828413|PMID:8456431 12048302 VWF von Willebrand factor gene DOID:6432 pulmonary hypertension ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:14507115|REF_RGD_ID:1580645 12048302 VWF von Willebrand factor gene DOID:783 end stage renal disease ISO RGD:1347936 D RGD:9068941 20200609 RGD protein:increased oxidation:plasma PMID:22091998|REF_RGD_ID:7205646 12048302 VWF von Willebrand factor gene DOID:783 end stage renal disease disease_progression ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:22189209|REF_RGD_ID:7205641 12048302 VWF von Willebrand factor gene DOID:783 end stage renal disease treatment ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:21378155|REF_RGD_ID:7205649 12048302 VWF von Willebrand factor gene DOID:8947 diabetic retinopathy ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:10077454|REF_RGD_ID:1580648 12048302 VWF von Willebrand factor gene DOID:9000039 Spinal Cord Injuries ISO RGD:621759 D RGD:9068941 20200609 RGD PMID:25771801|REF_RGD_ID:13673888 12048302 VWF von Willebrand factor gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:10997 D RGD:9068941 20200609 RGD PMID:20439183|REF_RGD_ID:7207026 12048302 VWF von Willebrand factor gene DOID:9000326 Thrombotic Microangiopathies disease_progression ISO RGD:1347936 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21153061|REF_RGD_ID:7205650 12048302 VWF von Willebrand factor gene DOID:9000528 Coronary Disease ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:11864703|REF_RGD_ID:1580647 12048302 VWF von Willebrand factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28527913 12048302 VWF von Willebrand factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621759 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:7531171|REF_RGD_ID:11079232 12048302 VWF von Willebrand factor gene DOID:9001708 Hemorrhagic Shock ISO RGD:621759 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:15748447|REF_RGD_ID:10450768 12048302 VWF von Willebrand factor gene DOID:9002448 Thrombotic Thrombocytopenic Purpura, Acquired treatment ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:26863353|REF_RGD_ID:11079195 12048302 VWF von Willebrand factor gene DOID:9003505 Venous Thromboembolism ISO RGD:1347936 D RGD:9068941 20200609 RGD associated with Glomerulosclerosis, Focal Segmental PMID:22295953|REF_RGD_ID:7207031 12048302 VWF von Willebrand factor gene DOID:9005307 Bone Marrow Failure Syndrome 3 ISO RGD:1347936 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bone marrow failure syndrome 3 PMID:25741868|PMID:26467025 12048302 VWF von Willebrand factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621759 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17546272|REF_RGD_ID:1625712 12048302 VWF von Willebrand factor gene DOID:9005930 Endotoxemia ISO RGD:621759 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell: PMID:2650559|REF_RGD_ID:11079230 12048302 VWF von Willebrand factor gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:621759 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:12684225|REF_RGD_ID:11080744 12048302 VWF von Willebrand factor gene DOID:9006262 Cytomegalovirus Infections ISO RGD:1347936 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:23593305|REF_RGD_ID:38508895 12048302 VWF von Willebrand factor gene DOID:9006646 Metabolic Syndrome ISO RGD:1347936 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16764036|REF_RGD_ID:1625709 12048302 VWF von Willebrand factor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1347936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28527913 12048302 VWF von Willebrand factor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:621759 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:7531171|REF_RGD_ID:11079232 12048302 VWF von Willebrand factor gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:621759 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:17708840|REF_RGD_ID:11079229 12048302 VWF von Willebrand factor gene DOID:9007584 Von Willebrand Factor, Deficiency ISO RGD:1347936 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Reduced von Willebrand factor activity PMID:10669167|PMID:11756169|PMID:12043692|PMID:14613933|PMID:16870550|PMID:16889557|PMID:16925796|PMID:17080221|PMID:18230755|PMID:21346256|PMID:23647798|PMID:25741868|PMID:26467025|PMID:26986123|PMID:31064749|PMID:3257148|PMID:32581362|PMID:34355501|PMID:8456430|PMID:9253800 12048302 VWF von Willebrand factor gene DOID:9007692 Insulin Resistance ISO RGD:1347936 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16631442|REF_RGD_ID:1625711 12048302 VWF von Willebrand factor gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:621759 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:10365842|REF_RGD_ID:11080742 12048302 VWF von Willebrand factor gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1347936 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 12048302 VWF von Willebrand factor gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1347936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12048302 VWF von Willebrand factor gene DOID:9008752 Aortic Injuries ISO RGD:621759 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell: PMID:2650559|REF_RGD_ID:11079230 12048302 VWF von Willebrand factor gene DOID:9008975 Gastrointestinal Hemorrhage ISO RGD:621759 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:9790822|REF_RGD_ID:11080743 12048302 VWF von Willebrand factor gene DOID:9351 diabetes mellitus treatment ISO RGD:1553644 D RGD:9068941 20200609 RGD PMID:19722571|REF_RGD_ID:7207029 12048302 VWF von Willebrand factor gene DOID:9744 type 1 diabetes mellitus ISO RGD:621759 D RGD:9068941 20200609 RGD PMID:10729383|REF_RGD_ID:13673887 12048302 VWF von Willebrand factor gene DOID:9970 obesity ISO RGD:1347936 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma PMID:16739871|REF_RGD_ID:1625710 12048302 VWF von Willebrand factor gene DOID:9970 obesity ISO RGD:1347936 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16631442|REF_RGD_ID:1625711 12048358 JRK Jrk helix-turn-helix protein gene DOID:1825 childhood absence epilepsy ISO RGD:1314867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11463517 12048358 JRK Jrk helix-turn-helix protein gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:1314867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11463517 12048358 JRK Jrk helix-turn-helix protein gene DOID:630 genetic disease ISO RGD:1314867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048358 JRK Jrk helix-turn-helix protein gene DOID:9001793 Generalized Epilepsy ISO RGD:1314867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11463517 12048371 UTP6 UTP6 small subunit processome component gene DOID:1969 cerebral palsy ISO RGD:1603639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 12048371 UTP6 UTP6 small subunit processome component gene DOID:630 genetic disease ISO RGD:1603639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048395 SCYL1 SCY1 like pseudokinase 1 gene DOID:0050951 hereditary ataxia ISO RGD:1316463 D RGD:9068941 20220825 MouseDO 12048395 SCYL1 SCY1 like pseudokinase 1 gene DOID:0050972 spinocerebellar ataxia type 21 ISO RGD:1316462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 21 PMID:26581903|PMID:30531813 12048395 SCYL1 SCY1 like pseudokinase 1 gene DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome ISO RGD:1316462 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome PMID:28492532 12048395 SCYL1 SCY1 like pseudokinase 1 gene DOID:0111155 autosomal recessive spinocerebellar ataxia 21 ISO RGD:1316462 D RGD:7240710 20180418 OMIM 12048395 SCYL1 SCY1 like pseudokinase 1 gene DOID:0111155 autosomal recessive spinocerebellar ataxia 21 ISO RGD:1316462 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | ClinVar Annotator: match by term: CALFAN syndrome PMID:25741868|PMID:28492532|PMID:29419818|PMID:32146038|PMID:32860008 12048395 SCYL1 SCY1 like pseudokinase 1 gene DOID:1059 intellectual disability ISO RGD:1316462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12048395 SCYL1 SCY1 like pseudokinase 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1316462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12048395 SCYL1 SCY1 like pseudokinase 1 gene DOID:2746 glycogen storage disease V ISO RGD:1316462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12048395 SCYL1 SCY1 like pseudokinase 1 gene DOID:3070 high grade glioma ISO RGD:1316462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12048395 SCYL1 SCY1 like pseudokinase 1 gene DOID:630 genetic disease ISO RGD:1316462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12048395 SCYL1 SCY1 like pseudokinase 1 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1316462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12048395 SCYL1 SCY1 like pseudokinase 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1316462 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12048395 SCYL1 SCY1 like pseudokinase 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1316462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12048420 COPS6 COP9 signalosome subunit 6 gene DOID:10283 prostate cancer ISO RGD:1320520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12048420 COPS6 COP9 signalosome subunit 6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12048420 COPS6 COP9 signalosome subunit 6 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1320520 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12048420 COPS6 COP9 signalosome subunit 6 gene DOID:630 genetic disease ISO RGD:1320520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048434 SAG S-antigen visual arrestin gene DOID:0050534 congenital stationary night blindness ISO RGD:736449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7670478 12048434 SAG S-antigen visual arrestin gene DOID:0050795 cone dystrophy ISO RGD:736449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12048434 SAG S-antigen visual arrestin gene DOID:0060476 Perlman syndrome ISO RGD:736449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12048434 SAG S-antigen visual arrestin gene DOID:0110369 retinitis pigmentosa 47 ISO RGD:736449 D RGD:7240710 20180130 OMIM 12048434 SAG S-antigen visual arrestin gene DOID:0110369 retinitis pigmentosa 47 ISO RGD:736449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 47 PMID:15234147|PMID:15295660|PMID:17200654|PMID:17576681|PMID:18175313|PMID:21151602|PMID:21447990|PMID:21922265|PMID:21987685|PMID:22419846|PMID:22665972|PMID:23591405|PMID:25268133|PMID:25741868|PMID:28492532|PMID:33047631|PMID:7670478|PMID:9452120|PMID:9501883|PMID:9536098|PMID:9565049 12048434 SAG S-antigen visual arrestin gene DOID:0110712 Oguchi disease-1 ISO RGD:736449 D RGD:7240710 20190306 OMIM 12048434 SAG S-antigen visual arrestin gene DOID:0110712 Oguchi disease-1 ISO RGD:736449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Oguchi disease-1 PMID:15234147|PMID:21151602|PMID:22419846|PMID:22581970|PMID:22665972|PMID:25741868|PMID:28492532|PMID:33047631|PMID:9452120 12048434 SAG S-antigen visual arrestin gene DOID:0110713 Oguchi disease-2 ISO RGD:736449 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Oguchi disease-2 PMID:15234147|PMID:21151602|PMID:22419846|PMID:22665972|PMID:25741868|PMID:28492532|PMID:33047631|PMID:9452120 12048434 SAG S-antigen visual arrestin gene DOID:0110991 Joubert syndrome 22 ISO RGD:736449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12048434 SAG S-antigen visual arrestin gene DOID:10584 retinitis pigmentosa ISO RGD:736449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15234147|PMID:16199547|PMID:18175313|PMID:20981092|PMID:22665972|PMID:22995991|PMID:24265693|PMID:25741868|PMID:28492532|PMID:30718709|PMID:9452120|PMID:9501883 12048434 SAG S-antigen visual arrestin gene DOID:10584 retinitis pigmentosa ISO RGD:736449 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15234147|PMID:16199547|PMID:17576681|PMID:18175313|PMID:20981092|PMID:22665972|PMID:22995991|PMID:24265693|PMID:25741868|PMID:28492532|PMID:30718709|PMID:9452120|PMID:9501883|PMID:9536098 12048434 SAG S-antigen visual arrestin gene DOID:13141 uveitis ISO RGD:736449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8407215 12048434 SAG S-antigen visual arrestin gene DOID:630 genetic disease ISO RGD:736449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12048434 SAG S-antigen visual arrestin gene DOID:8498 hereditary night blindness ISO RGD:736449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Oguchi disease | ClinVar Annotator: match by term: Stationary night blindness, Oguchi type PMID:15234147|PMID:15295660|PMID:17200654|PMID:17576681|PMID:18175313|PMID:20981092|PMID:21151602|PMID:21447990|PMID:21922265|PMID:21987685|PMID:22419846|PMID:22581970|PMID:22665972|PMID:22995991|PMID:24265693|PMID:25268133|PMID:25741868|PMID:28492532|PMID:30267901|PMID:33047631|PMID:7670478|PMID:9452120|PMID:9501883|PMID:9536098|PMID:9565049 12048434 SAG S-antigen visual arrestin gene DOID:8501 fundus dystrophy ISO RGD:736449 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15234147|PMID:16199547|PMID:21151602|PMID:22419846|PMID:22665972|PMID:25741868|PMID:28492532|PMID:28549094|PMID:29305604|PMID:33047631|PMID:9452120 12048434 SAG S-antigen visual arrestin gene DOID:9002289 Retinitis Pigmentosa 96 ISO RGD:736449 D RGD:7240710 20230215 OMIM 12048451 STX16 syntaxin 16 gene DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 ISO RGD:1319758 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 12048451 STX16 syntaxin 16 gene DOID:0080222 pseudohypoparathyroidism type IB ISO RGD:1319758 D RGD:7240710 20230420 OMIM 12048451 STX16 syntaxin 16 gene DOID:0080222 pseudohypoparathyroidism type IB ISO RGD:1319758 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B PMID:14561710|PMID:15579741|PMID:15800843|PMID:25741868|PMID:28492532 12048451 STX16 syntaxin 16 gene DOID:4479 pseudohypoaldosteronism ISO RGD:1319758 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism 12048451 STX16 syntaxin 16 gene DOID:630 genetic disease ISO RGD:1319758 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12048471 C12H12orf4 chromosome 12 C12orf4 homolog gene DOID:0050989 episodic ataxia type 1 ISO RGD:1322478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 12048471 C12H12orf4 chromosome 12 C12orf4 homolog gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1322478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12048471 C12H12orf4 chromosome 12 C12orf4 homolog gene DOID:0081227 autosomal recessive intellectual developmental disorder 66 ISO RGD:1322478 D RGD:7240710 20190315 OMIM 12048471 C12H12orf4 chromosome 12 C12orf4 homolog gene DOID:0081227 autosomal recessive intellectual developmental disorder 66 ISO RGD:1322478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mental retardation, autosomal recessive 66 PMID:25558065|PMID:25741868|PMID:27311568|PMID:28097321|PMID:31334606 12048471 C12H12orf4 chromosome 12 C12orf4 homolog gene DOID:1059 intellectual disability ISO RGD:1322478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25558065|PMID:27311568 12048471 C12H12orf4 chromosome 12 C12orf4 homolog gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1322478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:25558065|PMID:27311568 12048471 C12H12orf4 chromosome 12 C12orf4 homolog gene DOID:630 genetic disease ISO RGD:1322478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048471 C12H12orf4 chromosome 12 C12orf4 homolog gene DOID:9005603 Muscle Hypotonia ISO RGD:1322478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:25558065|PMID:27311568 12048471 C12H12orf4 chromosome 12 C12orf4 homolog gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1322478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12048489 PGBD5 piggyBac transposable element derived 5 gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1321950 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 12048489 PGBD5 piggyBac transposable element derived 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1321950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12048489 PGBD5 piggyBac transposable element derived 5 gene DOID:3672 rhabdoid cancer ISO RGD:1321950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28504702 12048489 PGBD5 piggyBac transposable element derived 5 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1321950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 12048489 PGBD5 piggyBac transposable element derived 5 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1321950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28504702 12048489 PGBD5 piggyBac transposable element derived 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12048500 MTBP MDM2 binding protein gene DOID:10283 prostate cancer ISO RGD:1354048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12048500 MTBP MDM2 binding protein gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1354048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12048500 MTBP MDM2 binding protein gene DOID:630 genetic disease ISO RGD:1354048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048500 MTBP MDM2 binding protein gene DOID:684 hepatocellular carcinoma ISO RGD:1354048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29765550 12048533 ABCA7 ATP binding cassette subfamily A member 7 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1601775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 12048533 ABCA7 ATP binding cassette subfamily A member 7 gene DOID:0111364 Alzheimer's disease 9 ISO RGD:1601775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALZHEIMER DISEASE 9, LATE-ONSET | ClinVar Annotator: match by term: Alzheimer disease 9 PMID:25741868|PMID:25807283|PMID:26141617|PMID:27066581|PMID:28492532|PMID:28789839 12048533 ABCA7 ATP binding cassette subfamily A member 7 gene DOID:0111364 Alzheimer's disease 9 susceptibility ISO RGD:1601775 D RGD:7240710 20190502 OMIM 12048533 ABCA7 ATP binding cassette subfamily A member 7 gene DOID:10652 Alzheimer's disease ISO RGD:1601775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early onset PMID:25741868|PMID:25807283|PMID:26141617|PMID:27066581|PMID:28492532 12048533 ABCA7 ATP binding cassette subfamily A member 7 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1601775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 12048533 ABCA7 ATP binding cassette subfamily A member 7 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1601775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 12048533 ABCA7 ATP binding cassette subfamily A member 7 gene DOID:5339 cyclic hematopoiesis ISO RGD:1601775 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12048533 ABCA7 ATP binding cassette subfamily A member 7 gene DOID:630 genetic disease ISO RGD:1601775 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12048533 ABCA7 ATP binding cassette subfamily A member 7 gene DOID:9000918 Disease Progression ISO RGD:1601775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12048533 ABCA7 ATP binding cassette subfamily A member 7 gene DOID:9006836 Contracture ISO RGD:1601775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 12048533 ABCA7 ATP binding cassette subfamily A member 7 gene DOID:9255 frontotemporal dementia ISO RGD:1601775 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:25741868|PMID:26101835|PMID:28097223|PMID:28400126|PMID:28789839|PMID:30924900|PMID:31836585 12048607 ZNF529 zinc finger protein 529 gene DOID:630 genetic disease ISO RGD:1353081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048621 PRPS1L1 phosphoribosyl pyrophosphate synthetase 1 like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12048621 PRPS1L1 phosphoribosyl pyrophosphate synthetase 1 like 1 gene DOID:630 genetic disease ISO RGD:1314887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048627 MRPL12 mitochondrial ribosomal protein L12 gene DOID:0080600 COVID-19 ISO RGD:1343345 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12048627 MRPL12 mitochondrial ribosomal protein L12 gene DOID:0112113 combined oxidative phosphorylation deficiency 45 ISO RGD:1343345 D RGD:7240710 20200812 OMIM 12048627 MRPL12 mitochondrial ribosomal protein L12 gene DOID:0112113 combined oxidative phosphorylation deficiency 45 ISO RGD:1343345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 45 PMID:23603806 12048627 MRPL12 mitochondrial ribosomal protein L12 gene DOID:3910 lung adenocarcinoma ISO RGD:1343345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12048627 MRPL12 mitochondrial ribosomal protein L12 gene DOID:630 genetic disease ISO RGD:1343345 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12048627 MRPL12 mitochondrial ribosomal protein L12 gene DOID:9006205 Animal Disease Models ISO RGD:1343345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12048636 ZNF649 zinc finger protein 649 gene DOID:630 genetic disease ISO RGD:1606512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048659 TWIST1 twist family bHLH transcription factor 1 gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:1349130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22155737 12048659 TWIST1 twist family bHLH transcription factor 1 gene DOID:0050827 rheumatic heart disease ISO RGD:621455 D RGD:9068941 20230202 RGD mRNA, protein:increases expression:mitral valve, heart (rat) PMID:33179113|REF_RGD_ID:155882558 12048659 TWIST1 twist family bHLH transcription factor 1 gene DOID:0080538 Sweeney-Cox syndrome ISO RGD:1349130 D RGD:7240710 20190315 OMIM 12048659 TWIST1 twist family bHLH transcription factor 1 gene DOID:0080538 Sweeney-Cox syndrome ISO RGD:1349130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: SWEENEY-COX SYNDROME | ClinVar Annotator: match by term: Sweeney-Cox syndrome PMID:10649491|PMID:15923834|PMID:18391498|PMID:21876555|PMID:25271085|PMID:25741868|PMID:27884935|PMID:28369379|PMID:28492532|PMID:29304373|PMID:30450715|PMID:31754721|PMID:8988166|PMID:9259286 12048659 TWIST1 twist family bHLH transcription factor 1 gene DOID:12960 acrocephalosyndactylia ISO RGD:1349130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly PMID:10094188|PMID:10649491|PMID:10749989|PMID:11248247|PMID:11474656|PMID:11748846|PMID:11754069|PMID:11977182|PMID:11992718|PMID:12116251|PMID:1240778|PMID:12791045|PMID:14513358|PMID:15923834|PMID:16251895|PMID:16838304|PMID:17693524|PMID:18391498|PMID:19373776|PMID:19483581|PMID:19755431|PMID:19952666|PMID:20184424|PMID:20643727|PMID:21520333|PMID:21876555|PMID:22382802|PMID:22544111|PMID:22982246|PMID:24127277|PMID:25271085|PMID:25741868|PMID:26114524|PMID:28369379|PMID:28492532|PMID:29037998|PMID:29304373|PMID:30450715|PMID:30651579|PMID:31754721|PMID:31837199|PMID:33547006|PMID:33937142|PMID:8968762|PMID:8988166|PMID:8988167|PMID:9259286|PMID:9585583|PMID:9792856 12048659 TWIST1 twist family bHLH transcription factor 1 gene DOID:14768 Saethre-Chotzen syndrome ISO RGD:1349130 D RGD:7240710 20180725 OMIM 12048659 TWIST1 twist family bHLH transcription factor 1 gene DOID:14768 Saethre-Chotzen syndrome ISO RGD:1349130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ACS III | ClinVar Annotator: match by term: Chotzen syndrome | ClinVar Annotator: match by term: Saethre-Chotzen syndrome PMID:10094188|PMID:10649491|PMID:10749989|PMID:11248247|PMID:11474656|PMID:11748846|PMID:11754069|PMID:11854168|PMID:11977182|PMID:11992718|PMID:12116251|PMID:1240778|PMID:12791045|PMID:14513358|PMID:15099347|PMID:15923834|PMID:16251895|PMID:16838304|PMID:17651129|PMID:17693524|PMID:18391498|PMID:19373776|PMID:19483581|PMID:19755431|PMID:19952666|PMID:20184424|PMID:20643727|PMID:21520333|PMID:21876555|PMID:22382802|PMID:22544111|PMID:22982246|PMID:22995991|PMID:23527594|PMID:24127277|PMID:25271085|PMID:25741868|PMID:25741869|PMID:26114524|PMID:26416026|PMID:28369379|PMID:28492532|PMID:28617965|PMID:29037998|PMID:29304373|PMID:29597095|PMID:30450715|PMID:30651579|PMID:31754721|PMID:31837199|PMID:33547006|PMID:33937142|PMID:8968762|PMID:8988166|PMID:8988167|PMID:9259286|PMID:9585583|PMID:9792856|PMID:9934984 12048659 TWIST1 twist family bHLH transcription factor 1 gene DOID:1612 breast cancer disease_progression ISO RGD:1605727 D RGD:9068941 20220407 RGD PMID:27524420|REF_RGD_ID:151665821 12048659 TWIST1 twist family bHLH transcription factor 1 gene DOID:2340 craniosynostosis ISO RGD:1349130 D RGD:7240710 20180130 OMIM 12048659 TWIST1 twist family bHLH transcription factor 1 gene DOID:2340 craniosynostosis ISO RGD:1349130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2 related craniosynostosis PMID:10094188|PMID:10649491|PMID:10749989|PMID:11248247|PMID:11474656|PMID:11748846|PMID:11754069|PMID:11977182|PMID:11992718|PMID:12116251|PMID:1240778|PMID:12791045|PMID:14513358|PMID:15923834|PMID:16251895|PMID:16838304|PMID:17343269|PMID:17693524|PMID:18391498|PMID:19373776|PMID:19483581|PMID:19755431|PMID:20643727|PMID:21520333|PMID:22382802|PMID:22982246|PMID:24127277|PMID:25271085|PMID:25741868|PMID:26114524|PMID:28492532|PMID:30651579|PMID:31754721|PMID:31837199|PMID:8968762|PMID:8988166|PMID:8988167|PMID:9259286|PMID:9585583|PMID:9792856 12048659 TWIST1 twist family bHLH transcription factor 1 gene DOID:2340 craniosynostosis ISO RGD:1349130 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2 related craniosynostosis PMID:10649491|PMID:10749989|PMID:11248247|PMID:11474656|PMID:11754069|PMID:11977182|PMID:12116251|PMID:1240778|PMID:12791045|PMID:17343269|PMID:19373776|PMID:20643727|PMID:22382802|PMID:24127277|PMID:25271085|PMID:25741868|PMID:26114524|PMID:28492532|PMID:31754721|PMID:31837199|PMID:8968762|PMID:8988167|PMID:9585583|PMID:9792856 12048659 TWIST1 twist family bHLH transcription factor 1 gene DOID:2340 craniosynostosis ISO RGD:1349130 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:10649491|PMID:10749989|PMID:11248247|PMID:11474656|PMID:11754069|PMID:11977182|PMID:12116251|PMID:1240778|PMID:12791045|PMID:15923834|PMID:17343269|PMID:18391498|PMID:19373776|PMID:20643727|PMID:21876555|PMID:22382802|PMID:24127277|PMID:25271085|PMID:25741868|PMID:26114524|PMID:28369379|PMID:28492532|PMID:30450715|PMID:31754721|PMID:31837199|PMID:8968762|PMID:8988167|PMID:9259286|PMID:9585583|PMID:9792856 12048659 TWIST1 twist family bHLH transcription factor 1 gene DOID:2340 craniosynostosis ISO RGD:1349130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:10094188|PMID:10649491|PMID:10749989|PMID:11248247|PMID:11474656|PMID:11748846|PMID:11754069|PMID:11977182|PMID:11992718|PMID:12116251|PMID:1240778|PMID:12791045|PMID:14513358|PMID:15923834|PMID:16251895|PMID:16838304|PMID:17343269|PMID:17693524|PMID:18391498|PMID:19373776|PMID:19483581|PMID:19755431|PMID:19952666|PMID:20184424|PMID:20643727|PMID:21520333|PMID:21876555|PMID:22382802|PMID:22544111|PMID:22982246|PMID:24127277|PMID:25271085|PMID:25741868|PMID:26114524|PMID:28369379|PMID:28492532|PMID:29037998|PMID:30450715|PMID:30651579|PMID:31754721|PMID:31837199|PMID:33547006|PMID:33937142|PMID:8968762|PMID:8988166|PMID:8988167|PMID:9259286|PMID:9585583|PMID:9792856 12048659 TWIST1 twist family bHLH transcription factor 1 gene DOID:2340 craniosynostosis ISO RGD:1349130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 PMID:10094188|PMID:10649491|PMID:10749989|PMID:11248247|PMID:11474656|PMID:11748846|PMID:11754069|PMID:11977182|PMID:11992718|PMID:12116251|PMID:1240778|PMID:12791045|PMID:14513358|PMID:15923834|PMID:16251895|PMID:16838304|PMID:17343269|PMID:17693524|PMID:18391498|PMID:19373776|PMID:19483581|PMID:19755431|PMID:19952666|PMID:20184424|PMID:20643727|PMID:21520333|PMID:21876555|PMID:22382802|PMID:22544111|PMID:22982246|PMID:24127277|PMID:25271085|PMID:25741868|PMID:26114524|PMID:28369379|PMID:28492532|PMID:29037998|PMID:29304373|PMID:30450715|PMID:30651579|PMID:31754721|PMID:31837199|PMID:33547006|PMID:33937142|PMID:8968762|PMID:8988166|PMID:8988167|PMID:9259286|PMID:9585583|PMID:9792856 12048659 TWIST1 twist family bHLH transcription factor 1 gene DOID:3393 coronary artery disease ISO RGD:1349130 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 12048659 TWIST1 twist family bHLH transcription factor 1 gene DOID:3459 breast carcinoma exacerbates ISO RGD:1349130 D RGD:9068941 20220407 RGD PMID:27524420|REF_RGD_ID:151665821 12048659 TWIST1 twist family bHLH transcription factor 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1349130 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19893041|REF_RGD_ID:5131599 12048659 TWIST1 twist family bHLH transcription factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12048659 TWIST1 twist family bHLH transcription factor 1 gene DOID:630 genetic disease ISO RGD:1349130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11248247|PMID:11854168|PMID:15099347|PMID:16251895|PMID:19952666|PMID:22995991|PMID:23527594|PMID:25741868|PMID:28492532|PMID:29304373|PMID:9259286 12048659 TWIST1 twist family bHLH transcription factor 1 gene DOID:6432 pulmonary hypertension treatment ISO RGD:621455 D RGD:9068941 20200924 RGD PMID:25593290|REF_RGD_ID:38500244 12048659 TWIST1 twist family bHLH transcription factor 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1349130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19806464 12048659 TWIST1 twist family bHLH transcription factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19806464 12048659 TWIST1 twist family bHLH transcription factor 1 gene DOID:9001080 Robinow Sorauf Syndrome ISO RGD:1349130 D RGD:7240710 20180130 OMIM 12048659 TWIST1 twist family bHLH transcription factor 1 gene DOID:9001080 Robinow Sorauf Syndrome ISO RGD:1349130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acrocephalosyndactyly, Robinow-Sorauf type | ClinVar Annotator: match by term: Robinow-Sorauf syndrome PMID:10465122|PMID:10749989|PMID:1240778|PMID:12791045|PMID:16251895|PMID:18391498|PMID:25741868|PMID:28492532 12048659 TWIST1 twist family bHLH transcription factor 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1349130 D RGD:9068941 20200924 RGD mRNA, protein:increased expression: pulmonary artery,lung: PMID:25593290|REF_RGD_ID:38500244 12048659 TWIST1 twist family bHLH transcription factor 1 gene DOID:9002862 Craniosynostosis 3 ISO RGD:1349130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronal craniosynostosis 12048659 TWIST1 twist family bHLH transcription factor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1349130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22155737 12048659 TWIST1 twist family bHLH transcription factor 1 gene DOID:9004771 Vascular Remodeling ISO RGD:621455 D RGD:9068941 20200924 RGD protein:increased expression:lung PMID:25593290|REF_RGD_ID:38500244 12048659 TWIST1 twist family bHLH transcription factor 1 gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:621455 D RGD:9068941 20200924 RGD PMID:25593290|REF_RGD_ID:38500244 12048670 GUCA2A guanylate cyclase activator 2A gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:735414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12048670 GUCA2A guanylate cyclase activator 2A gene DOID:630 genetic disease ISO RGD:735414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048681 ZNF677 zinc finger protein 677 gene DOID:630 genetic disease ISO RGD:1604169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048710 CEMIP cell migration inducing hyaluronidase 1 gene DOID:0050726 tyrosinemia type I ISO RGD:1313176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tyrosinemia type I PMID:28492532 12048710 CEMIP cell migration inducing hyaluronidase 1 gene DOID:2717 Bloom syndrome ISO RGD:1313176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12048710 CEMIP cell migration inducing hyaluronidase 1 gene DOID:630 genetic disease ISO RGD:1313176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048710 CEMIP cell migration inducing hyaluronidase 1 gene DOID:9256 colorectal cancer ISO RGD:1313176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12048757 NDUFC2 NADH:ubiquinone oxidoreductase subunit C2 gene DOID:1059 intellectual disability ISO RGD:1316748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12048757 NDUFC2 NADH:ubiquinone oxidoreductase subunit C2 gene DOID:700 mitochondrial metabolism disease ISO RGD:1316748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:25741868|PMID:32969598 12048757 NDUFC2 NADH:ubiquinone oxidoreductase subunit C2 gene DOID:9001378 Nuclear Type Mitochondrial Complex I Deficiency 36 ISO RGD:1316748 D RGD:7240710 20210203 OMIM 12048757 NDUFC2 NADH:ubiquinone oxidoreductase subunit C2 gene DOID:9001378 Nuclear Type Mitochondrial Complex I Deficiency 36 ISO RGD:1316748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36 PMID:25741868|PMID:32969598 12048757 NDUFC2 NADH:ubiquinone oxidoreductase subunit C2 gene DOID:9007096 Stroke ISO RGD:1307511 D RGD:9068941 20200609 RGD incidence 40% in heterozygous SHR-Ndufc2 rats vs 0% in parental SHR rats after 3 months of stroke-permissive diet PMID:26888427|REF_RGD_ID:11040458 12048757 NDUFC2 NADH:ubiquinone oxidoreductase subunit C2 gene DOID:9007096 Stroke susceptibility ISO RGD:1316748 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype::rs641836, rs11237379 (human) PMID:26888427|REF_RGD_ID:11040458 12048764 DEFB129 defensin beta 129 gene DOID:630 genetic disease ISO RGD:1347595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048764 DEFB129 defensin beta 129 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12048774 SC5D sterol-C5-desaturase gene DOID:0060017 CD3epsilon deficiency ISO RGD:1351356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12048774 SC5D sterol-C5-desaturase gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1351356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12048774 SC5D sterol-C5-desaturase gene DOID:0080690 RASopathy ISO RGD:1351356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12048774 SC5D sterol-C5-desaturase gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1351356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12048774 SC5D sterol-C5-desaturase gene DOID:0111971 immunodeficiency 18 ISO RGD:1351356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12048774 SC5D sterol-C5-desaturase gene DOID:0111972 immunodeficiency 19 ISO RGD:1351356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12048774 SC5D sterol-C5-desaturase gene DOID:0111973 immunodeficiency 17 ISO RGD:1351356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12048774 SC5D sterol-C5-desaturase gene DOID:1059 intellectual disability ISO RGD:1351356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189593 12048774 SC5D sterol-C5-desaturase gene DOID:409 liver disease ISO RGD:1351356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189593 12048774 SC5D sterol-C5-desaturase gene DOID:5419 schizophrenia ISO RGD:1351356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12048774 SC5D sterol-C5-desaturase gene DOID:630 genetic disease ISO RGD:1351356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12048774 SC5D sterol-C5-desaturase gene DOID:9001858 Lathosterolosis ISO RGD:1351356 D RGD:7240710 20190315 OMIM 12048774 SC5D sterol-C5-desaturase gene DOID:9001858 Lathosterolosis ISO RGD:1351356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lathosterolosis PMID:12189593|PMID:12812989|PMID:24142275|PMID:25741868|PMID:28492532|PMID:30097991 12048774 SC5D sterol-C5-desaturase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1351356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12048774 SC5D sterol-C5-desaturase gene DOID:9007661 Dwarfism ISO RGD:1351356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12048789 COBLL1 cordon-bleu WH2 repeat protein like 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1319028 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 12048789 COBLL1 cordon-bleu WH2 repeat protein like 1 gene DOID:1826 epilepsy ISO RGD:1319028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 12048789 COBLL1 cordon-bleu WH2 repeat protein like 1 gene DOID:630 genetic disease ISO RGD:1319028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048789 COBLL1 cordon-bleu WH2 repeat protein like 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1319028 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34355838 12048808 ARL6IP4 ADP ribosylation factor like GTPase 6 interacting protein 4 gene DOID:630 genetic disease ISO RGD:1316976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048847 LACC1 laccase domain containing 1 gene DOID:1024 leprosy ISO RGD:1602651 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 PMID:25741868 12048847 LACC1 laccase domain containing 1 gene DOID:630 genetic disease ISO RGD:1602651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048847 LACC1 laccase domain containing 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1602651 D RGD:7240710 20200318 OMIM 12048847 LACC1 laccase domain containing 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1602651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: JUVENILE ARTHRITIS PMID:25147203|PMID:25220867|PMID:25741868|PMID:27881174|PMID:29717096|PMID:31811059 12048871 KCNK6 potassium two pore domain channel subfamily K member 6 gene DOID:630 genetic disease ISO RGD:735903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048878 SHISA9 shisa family member 9 gene DOID:5419 schizophrenia ISO RGD:3160513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12048878 SHISA9 shisa family member 9 gene DOID:630 genetic disease ISO RGD:3160513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048887 NEIL2 nei like DNA glycosylase 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1323805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm PMID:32748548 12048887 NEIL2 nei like DNA glycosylase 2 gene DOID:630 genetic disease ISO RGD:1323805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048887 NEIL2 nei like DNA glycosylase 2 gene DOID:9002189 High Myopia ISO RGD:1323805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12048887 NEIL2 nei like DNA glycosylase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12048888 RXRA retinoid X receptor alpha gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:736929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12048888 RXRA retinoid X receptor alpha gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:736929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 12048888 RXRA retinoid X receptor alpha gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:736929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12048888 RXRA retinoid X receptor alpha gene DOID:0080324 tuberous sclerosis 1 ISO RGD:736929 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12048888 RXRA retinoid X receptor alpha gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:736929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12048888 RXRA retinoid X receptor alpha gene DOID:0081097 Rafiq syndrome ISO RGD:736929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12048888 RXRA retinoid X receptor alpha gene DOID:11446 sciatic neuropathy ISO RGD:736929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16782282 12048888 RXRA retinoid X receptor alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:11250 D RGD:9068941 20220825 MouseDO 12048888 RXRA retinoid X receptor alpha gene DOID:12935 alcoholic cardiomyopathy ISO RGD:3610 D RGD:9068941 20200609 RGD PMID:19791468|REF_RGD_ID:2317465 12048888 RXRA retinoid X receptor alpha gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12048888 RXRA retinoid X receptor alpha gene DOID:1682 congenital heart disease ISO RGD:11250 D RGD:9068941 20220825 MouseDO 12048888 RXRA retinoid X receptor alpha gene DOID:1790 malignant mesothelioma ISO RGD:736929 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 12048888 RXRA retinoid X receptor alpha gene DOID:1793 pancreatic cancer ISO RGD:736929 D RGD:9068941 20200609 RGD PMID:19152448|REF_RGD_ID:2317462 12048888 RXRA retinoid X receptor alpha gene DOID:2671 transitional cell carcinoma ISO RGD:736929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:26619011 12048888 RXRA retinoid X receptor alpha gene DOID:3587 pancreatic ductal carcinoma severity ISO RGD:736929 D RGD:9068941 20200609 RGD PMID:19396032|REF_RGD_ID:2317461 12048888 RXRA retinoid X receptor alpha gene DOID:3652 Leigh disease ISO RGD:736929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12048888 RXRA retinoid X receptor alpha gene DOID:4074 pancreatic adenocarcinoma ISO RGD:736929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:26619011 12048888 RXRA retinoid X receptor alpha gene DOID:630 genetic disease ISO RGD:736929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048888 RXRA retinoid X receptor alpha gene DOID:684 hepatocellular carcinoma ISO RGD:736929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:26619011 12048888 RXRA retinoid X receptor alpha gene DOID:8634 prostate carcinoma in situ ISO RGD:3610 D RGD:9068941 20200609 RGD protein:decreased expression:prostate PMID:15318950|REF_RGD_ID:1643115 12048888 RXRA retinoid X receptor alpha gene DOID:9000965 Neoplasm Metastasis ISO RGD:3610 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:15318950|REF_RGD_ID:1643115 12048888 RXRA retinoid X receptor alpha gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736929 D RGD:9068941 20200609 RGD PMID:15566521|REF_RGD_ID:1643114 12048888 RXRA retinoid X receptor alpha gene DOID:9001579 Neurogenic Inflammation ISO RGD:3610 D RGD:9068941 20200609 RGD protein:increased expression:macrophage PMID:16782282|REF_RGD_ID:1643108 12048888 RXRA retinoid X receptor alpha gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:3610 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:17786350|REF_RGD_ID:1643105 12048888 RXRA retinoid X receptor alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:3610 D RGD:9068941 20200609 RGD protein:decreased expression:prostate PMID:15318950|REF_RGD_ID:1643115 12048888 RXRA retinoid X receptor alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:736929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15318950 12048888 RXRA retinoid X receptor alpha gene DOID:9002498 Wallerian Degeneration ISO RGD:3610 D RGD:9068941 20200609 RGD mRNA:increased expression:sciatic nerve PMID:16782282|REF_RGD_ID:1643108 12048888 RXRA retinoid X receptor alpha gene DOID:9004484 Sepsis ISO RGD:3610 D RGD:9068941 20200609 RGD protein:altered localization:liver PMID:19008781|REF_RGD_ID:2317466 12048888 RXRA retinoid X receptor alpha gene DOID:9004484 Sepsis ISO RGD:3610 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:17483744|REF_RGD_ID:1643106 12048888 RXRA retinoid X receptor alpha gene DOID:9004547 Thyroid Neoplasms ISO RGD:736929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23811263 12048888 RXRA retinoid X receptor alpha gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3610 D RGD:9068941 20200609 RGD PMID:16344269|REF_RGD_ID:1643109 12048888 RXRA retinoid X receptor alpha gene DOID:9009073 Diaphragmatic Hernia ISO RGD:3610 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17270546|REF_RGD_ID:1643107 12048888 RXRA retinoid X receptor alpha gene DOID:9074 systemic lupus erythematosus ISO RGD:11250 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12048888 RXRA retinoid X receptor alpha gene DOID:9538 multiple myeloma ISO RGD:736929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12048888 RXRA retinoid X receptor alpha gene DOID:9970 obesity susceptibility ISO RGD:11250 D RGD:9068941 20200609 RGD PMID:15936932|REF_RGD_ID:1643104 12048906 PIN4 peptidylprolyl cis/trans isomerase, NIMA-interacting 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12048906 PIN4 peptidylprolyl cis/trans isomerase, NIMA-interacting 4 gene DOID:12849 autistic disorder ISO RGD:1345088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12048906 PIN4 peptidylprolyl cis/trans isomerase, NIMA-interacting 4 gene DOID:630 genetic disease ISO RGD:1345088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048917 EXO1 exonuclease 1 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1319820 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12048917 EXO1 exonuclease 1 gene DOID:0080600 COVID-19 ISO RGD:1319820 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12048917 EXO1 exonuclease 1 gene DOID:0111261 fumarase deficiency ISO RGD:1319820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fumarase deficiency PMID:11865300|PMID:12761039|PMID:21398687|PMID:22069215|PMID:28300276|PMID:28492532 12048917 EXO1 exonuclease 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1319820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12048917 EXO1 exonuclease 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1319820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12048917 EXO1 exonuclease 1 gene DOID:630 genetic disease ISO RGD:1319820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048917 EXO1 exonuclease 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1319820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12048917 EXO1 exonuclease 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12048917 EXO1 exonuclease 1 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1319820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 12048917 EXO1 exonuclease 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17656264 12048917 EXO1 exonuclease 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1319820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25751625 12048917 EXO1 exonuclease 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12048951 NCK2 NCK adaptor protein 2 gene DOID:10652 Alzheimer's disease ISO RGD:1314306 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33589840 12048951 NCK2 NCK adaptor protein 2 gene DOID:1184 nephrotic syndrome ISO RGD:1314306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19443634 12048951 NCK2 NCK adaptor protein 2 gene DOID:576 proteinuria ISO RGD:1314306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19443634 12048951 NCK2 NCK adaptor protein 2 gene DOID:630 genetic disease ISO RGD:1314306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048951 NCK2 NCK adaptor protein 2 gene DOID:9001542 Albuminuria ISO RGD:1314306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19443634 12048966 COPE COPI coat complex subunit epsilon gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1315598 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 12048966 COPE COPI coat complex subunit epsilon gene DOID:630 genetic disease ISO RGD:1315598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12048966 COPE COPI coat complex subunit epsilon gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1315598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12048982 ALG11 ALG11 alpha-1,2-mannosyltransferase gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1604899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12048982 ALG11 ALG11 alpha-1,2-mannosyltransferase gene DOID:0080567 congenital disorder of glycosylation Ip ISO RGD:1604899 D RGD:7240710 20180130 OMIM 12048982 ALG11 ALG11 alpha-1,2-mannosyltransferase gene DOID:0080567 congenital disorder of glycosylation Ip ISO RGD:1604899 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1P PMID:10441329|PMID:16283883|PMID:20080937|PMID:22213132|PMID:25741868|PMID:28122681|PMID:28492532|PMID:30676690 12048982 ALG11 ALG11 alpha-1,2-mannosyltransferase gene DOID:10316 pneumoconiosis ISO RGD:1604899 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 12048982 ALG11 ALG11 alpha-1,2-mannosyltransferase gene DOID:1059 intellectual disability ISO RGD:1604899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12048982 ALG11 ALG11 alpha-1,2-mannosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1604899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 12048982 ALG11 ALG11 alpha-1,2-mannosyltransferase gene DOID:630 genetic disease ISO RGD:1604899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:28649519 12048982 ALG11 ALG11 alpha-1,2-mannosyltransferase gene DOID:893 Wilson disease ISO RGD:1604899 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10441329|PMID:16283883|PMID:25741868|PMID:28492532|PMID:30655162|PMID:30676690 12049028 AMMECR1L AMMECR1 like gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1605931 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 12049028 AMMECR1L AMMECR1 like gene DOID:630 genetic disease ISO RGD:1605931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049043 SFN stratifin gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1312341 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12049043 SFN stratifin gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1312341 D RGD:9068941 20211126 RGD protein:increased expression:urothelium (human) PMID:17645415|REF_RGD_ID:2299928 12049043 SFN stratifin gene DOID:1749 squamous cell carcinoma ISO RGD:1312341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12049043 SFN stratifin gene DOID:2101 vulva squamous cell carcinoma ISO RGD:1312341 D RGD:9068941 20200609 RGD DNA, mRNA:hypermethylation, decreased expression:vulva PMID:11896620|REF_RGD_ID:2299936 12049043 SFN stratifin gene DOID:2394 ovarian cancer ISO RGD:1312341 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:16773180|REF_RGD_ID:2299930 12049043 SFN stratifin gene DOID:2394 ovarian cancer disease_progression ISO RGD:1312341 D RGD:9068941 20200609 RGD PMID:15102672|REF_RGD_ID:2299933 12049043 SFN stratifin gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1312341 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:16964403|REF_RGD_ID:2299929 12049043 SFN stratifin gene DOID:2871 endometrial carcinoma ISO RGD:1312341 D RGD:9068941 20200609 RGD PMID:16271083|REF_RGD_ID:2299931 12049043 SFN stratifin gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1312341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12049043 SFN stratifin gene DOID:3910 lung adenocarcinoma ISO RGD:1312341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 12049043 SFN stratifin gene DOID:630 genetic disease ISO RGD:1312341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049043 SFN stratifin gene DOID:684 hepatocellular carcinoma ISO RGD:1312341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12049043 SFN stratifin gene DOID:8719 in situ carcinoma ISO RGD:1312341 D RGD:9068941 20200609 RGD mRNA:decreased expression:vulva PMID:11896620|REF_RGD_ID:2299936 12049043 SFN stratifin gene DOID:9000058 Keloid ISO RGD:1312341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12049043 SFN stratifin gene DOID:9000081 Lymphatic Metastasis ISO RGD:1312341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 12049043 SFN stratifin gene DOID:9000117 Esophageal Neoplasms ISO RGD:1312341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 12049043 SFN stratifin gene DOID:9007364 Mouth Neoplasms ISO RGD:1312341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12049048 RAMP2 receptor activity modifying protein 2 gene DOID:10763 hypertension ISO RGD:61872 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart myocardium, aorta PMID:16450076|REF_RGD_ID:1625300 12049048 RAMP2 receptor activity modifying protein 2 gene DOID:10763 hypertension ISO RGD:735315 D RGD:9068941 20200609 RGD associated with Pregnancy Complications PMID:11600589|REF_RGD_ID:1642682 12049048 RAMP2 receptor activity modifying protein 2 gene DOID:10763 hypertension susceptibility ISO RGD:735315 D RGD:9068941 20200609 RGD DNA:SNP:intron PMID:15797661|REF_RGD_ID:1642679 12049048 RAMP2 receptor activity modifying protein 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:61872 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:17068622|REF_RGD_ID:1642683 12049048 RAMP2 receptor activity modifying protein 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12049048 RAMP2 receptor activity modifying protein 2 gene DOID:299 adenocarcinoma ISO RGD:735315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17671114 12049048 RAMP2 receptor activity modifying protein 2 gene DOID:557 kidney disease ISO RGD:61872 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:10733909|REF_RGD_ID:61729 12049048 RAMP2 receptor activity modifying protein 2 gene DOID:6000 congestive heart failure ISO RGD:61872 D RGD:9068941 20200609 RGD associated with Hypertension PMID:12623952|REF_RGD_ID:704370 12049048 RAMP2 receptor activity modifying protein 2 gene DOID:630 genetic disease ISO RGD:735315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049048 RAMP2 receptor activity modifying protein 2 gene DOID:6432 pulmonary hypertension ISO RGD:61872 D RGD:9068941 20200609 RGD mRNA:increased expression:heart right ventricle PMID:17437045|REF_RGD_ID:1642678 12049048 RAMP2 receptor activity modifying protein 2 gene DOID:672 spleen cancer ameliorates ISO RGD:62164 D RGD:9068941 20220609 RGD PMID:31754214|REF_RGD_ID:152985691 12049048 RAMP2 receptor activity modifying protein 2 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:735315 D RGD:9068941 20220421 RGD associated with colorectal cancer; protein:increased expression:lymph node (human) PMID:23634287|REF_RGD_ID:151708733 12049048 RAMP2 receptor activity modifying protein 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:62164 D RGD:9068941 20220609 RGD PMID:31754214|REF_RGD_ID:152985691 12049048 RAMP2 receptor activity modifying protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:61872 D RGD:9068941 20200609 RGD PMID:16713642|REF_RGD_ID:1625319 12049048 RAMP2 receptor activity modifying protein 2 gene DOID:9003936 Cardiomegaly ISO RGD:61872 D RGD:9068941 20200609 RGD PMID:15680493|REF_RGD_ID:1642686 12049048 RAMP2 receptor activity modifying protein 2 gene DOID:9004657 Weight Gain ISO RGD:735315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12049048 RAMP2 receptor activity modifying protein 2 gene DOID:9005172 Lung Neoplasms ISO RGD:735315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17671114 12049048 RAMP2 receptor activity modifying protein 2 gene DOID:9005587 Starvation ISO RGD:61872 D RGD:9068941 20200609 RGD PMID:17335899|REF_RGD_ID:1625307 12049048 RAMP2 receptor activity modifying protein 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61872 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:14717924|REF_RGD_ID:1642701 12049048 RAMP2 receptor activity modifying protein 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:61872 D RGD:9068941 20200609 RGD mRNA:increased expression:ventricle myocardium PMID:16987513|REF_RGD_ID:1642684 12049048 RAMP2 receptor activity modifying protein 2 gene DOID:9256 colorectal cancer ISO RGD:735315 D RGD:9068941 20220609 RGD mRNA:increased expression:colorectum (human) PMID:21839130|REF_RGD_ID:152985531 12049061 ZNF133 zinc finger protein 133 gene DOID:630 genetic disease ISO RGD:1343941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049111 SOWAHC sosondowah ankyrin repeat domain family member C gene DOID:630 genetic disease ISO RGD:1349983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049130 CHM CHM Rab escort protein gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12049130 CHM CHM Rab escort protein gene DOID:10584 retinitis pigmentosa ISO RGD:732475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:19422966|PMID:23811034|PMID:25741868|PMID:28492532|PMID:28559085|PMID:30718709|PMID:9067750 12049130 CHM CHM Rab escort protein gene DOID:12849 autistic disorder ISO RGD:732475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12049130 CHM CHM Rab escort protein gene DOID:630 genetic disease ISO RGD:732475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12049130 CHM CHM Rab escort protein gene DOID:8499 night blindness ISO RGD:732475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Night blindness PMID:25741868 12049130 CHM CHM Rab escort protein gene DOID:8501 fundus dystrophy ISO RGD:732475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10447648|PMID:11139690|PMID:12203991|PMID:12827496|PMID:1598901|PMID:16199547|PMID:16936131|PMID:19427510|PMID:21905166|PMID:23811034|PMID:25741868|PMID:26133251|PMID:27247961|PMID:28041643|PMID:28098911|PMID:28112135|PMID:28492532|PMID:28752371|PMID:29555028|PMID:30297895|PMID:30541579|PMID:9067750|PMID:9175730 12049130 CHM CHM Rab escort protein gene DOID:9008296 Eye Abnormalities ISO RGD:732475 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:28041643 12049130 CHM CHM Rab escort protein gene DOID:9821 Choroideremia ISO RGD:732475 D RGD:7240710 20180130 OMIM 12049130 CHM CHM Rab escort protein gene DOID:9821 Choroideremia ISO RGD:732475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Choroideremia | ClinVar Annotator: match by term: Choroideremia, Salla type PMID:1044764|PMID:10447648|PMID:11139690|PMID:12203991|PMID:12827496|PMID:1302003|PMID:1598901|PMID:16087855|PMID:16199547|PMID:16936131|PMID:17576681|PMID:18766988|PMID:21905166|PMID:22957832|PMID:23811034|PMID:25741868|PMID:25744334|PMID:25912515|PMID:26133251|PMID:27247961|PMID:28041643|PMID:28098911|PMID:28492532|PMID:28559085|PMID:29555028|PMID:30995293|PMID:31054281|PMID:32364220|PMID:32487042|PMID:7981670|PMID:8477262|PMID:8832720|PMID:9067750|PMID:9175730|PMID:9536098 12049149 PDZK1IP1 PDZK1 interacting protein 1 gene DOID:630 genetic disease ISO RGD:737282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049149 PDZK1IP1 PDZK1 interacting protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737282 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12049157 PRLHR prolactin releasing hormone receptor gene DOID:10763 hypertension ISO RGD:732732 D RGD:9068941 20200609 RGD DNA:SNP, missense mutation:promoter, cds:-62G>A, 914C>T (p.P305L) (human) PMID:14691196|REF_RGD_ID:1641832 12049157 PRLHR prolactin releasing hormone receptor gene DOID:630 genetic disease ISO RGD:732732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049157 PRLHR prolactin releasing hormone receptor gene DOID:9970 obesity ISO RGD:71037 D RGD:9068941 20200609 RGD PMID:15854142|REF_RGD_ID:1641829 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0050860 colorectal adenoma ISO RGD:737596 D RGD:9068941 20200609 RGD PMID:21122381|REF_RGD_ID:13217408 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0050861 colorectal adenocarcinoma ISO RGD:737596 D RGD:9068941 20200609 RGD PMID:21122381|REF_RGD_ID:13217408 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0060578 Noonan syndrome 1 ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:10064593|PMID:12077328|PMID:1760348|PMID:17603482|PMID:17603483|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20683980|PMID:21440552|PMID:21784453|PMID:22389993|PMID:22465605|PMID:23312806|PMID:23321623|PMID:23877478|PMID:24033266|PMID:24775816|PMID:25706034|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:30105547|PMID:30138938|PMID:30384889|PMID:31560489|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:8601312 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0060581 Noonan syndrome 3 ISO RGD:737596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome 3 PMID:17603482|PMID:22821648|PMID:25741868|PMID:28492532|PMID:30157809|PMID:30732632 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0060583 Noonan syndrome 5 ISO RGD:737596 D RGD:7240710 20180130 OMIM 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0060583 Noonan syndrome 5 ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Noonan syndrome 5 PMID:10064593|PMID:10497893|PMID:12077328|PMID:14701845|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603485|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23391722|PMID:23529931|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25706034|PMID:25741868|PMID:25862627|PMID:26266034|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26659599|PMID:26918529|PMID:27631234|PMID:27753652|PMID:28492532|PMID:28777121|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29232918|PMID:29271604|PMID:29493581|PMID:29522511|PMID:29948256|PMID:30105547|PMID:30138938|PMID:30384889|PMID:31560489|PMID:31589614|PMID:32269299|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:33673806|PMID:8601312|PMID:9536098 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737596 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:12077328|PMID:17603482|PMID:17603483|PMID:17603486|PMID:17603487|PMID:20052757|PMID:20679480|PMID:20683980|PMID:21784453|PMID:22465605|PMID:22781091|PMID:23737487|PMID:23885229|PMID:24033266|PMID:24803665|PMID:25741868|PMID:26266034|PMID:26580448|PMID:28492532|PMID:28750076|PMID:29493581|PMID:29522511 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080549 Noonan syndrome with multiple lentigines 2 ISO RGD:737596 D RGD:7240710 20180130 OMIM 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080549 Noonan syndrome with multiple lentigines 2 ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 2 PMID:10064593|PMID:10497893|PMID:12077328|PMID:14701845|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603486|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19020799|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22389993|PMID:22558107|PMID:22821648|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24775816|PMID:24777450|PMID:25706034|PMID:25741868|PMID:26266034|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29232918|PMID:29271604|PMID:29493581|PMID:29522511|PMID:29948256|PMID:30105547|PMID:30138938|PMID:30157809|PMID:30384889|PMID:30732632|PMID:31030682|PMID:31560489|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:8601312|PMID:9536098 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080690 RASopathy ISO RGD:737596 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10064593|PMID:10497893|PMID:11447113|PMID:12077328|PMID:12675918|PMID:16585161|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603484|PMID:17603485|PMID:17603486|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19020799|PMID:19357705|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22786616|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23391722|PMID:23529931|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24732797|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25706034|PMID:25741868|PMID:25862627|PMID:25974318|PMID:26266034|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26918529|PMID:27040691|PMID:27763634|PMID:28069802|PMID:28166811|PMID:28492532|PMID:28777121|PMID:29084544|PMID:29232918|PMID:29493581|PMID:29907801|PMID:29948256|PMID:30157809|PMID:30204961|PMID:30417923|PMID:30732632|PMID:31030682|PMID:31145547|PMID:31560489|PMID:31589614|PMID:8601312|PMID:9536098 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080690 RASopathy ISO RGD:737596 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10064593|PMID:10497893|PMID:11447113|PMID:12077328|PMID:12675918|PMID:16585161|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603484|PMID:17603485|PMID:17603486|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19020799|PMID:19357705|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22190897|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22786616|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23391722|PMID:23529931|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24732797|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25706034|PMID:25741868|PMID:25862627|PMID:25974318|PMID:26266034|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26918529|PMID:27040691|PMID:27763634|PMID:28069802|PMID:28166811|PMID:28492532|PMID:28777121|PMID:29084544|PMID:29232918|PMID:29493581|PMID:29907801|PMID:29948256|PMID:30157809|PMID:30204961|PMID:30417923|PMID:30732632|PMID:31030682|PMID:31145547|PMID:31292302|PMID:31560489|PMID:31589614|PMID:8601312|PMID:9536098 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080690 RASopathy ISO RGD:737596 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10064593|PMID:10497893|PMID:11447113|PMID:12077328|PMID:12675918|PMID:16585161|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603484|PMID:17603485|PMID:17603486|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19020799|PMID:19357705|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22190897|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22786616|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23391722|PMID:23529931|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24732797|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25706034|PMID:25741868|PMID:25862627|PMID:25974318|PMID:26266034|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26918529|PMID:27040691|PMID:27763634|PMID:28069802|PMID:28166811|PMID:28492532|PMID:28777121|PMID:29084544|PMID:29232918|PMID:29493581|PMID:29907801|PMID:29948256|PMID:30157809|PMID:30204961|PMID:30417923|PMID:30732632|PMID:31030682|PMID:31145547|PMID:31292302|PMID:31560489|PMID:31589614|PMID:8601312|PMID:9536098 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080690 RASopathy ISO RGD:737596 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10064593|PMID:10497893|PMID:11447113|PMID:12077328|PMID:12675918|PMID:16585161|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603484|PMID:17603485|PMID:17603486|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19020799|PMID:19357705|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22190897|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22786616|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23391722|PMID:23529931|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24732797|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25706034|PMID:25741868|PMID:25862627|PMID:25974318|PMID:26266034|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26659599|PMID:26918529|PMID:27040691|PMID:27631234|PMID:27763634|PMID:28069802|PMID:28166811|PMID:28492532|PMID:28750076|PMID:28777121|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29232918|PMID:29493581|PMID:29522511|PMID:29532030|PMID:29907801|PMID:29948256|PMID:30105547|PMID:30138938|PMID:30157809|PMID:30204961|PMID:30384889|PMID:30417923|PMID:30548201|PMID:30732632|PMID:30904638|PMID:31030682|PMID:31145547|PMID:31292302|PMID:31560489|PMID:31589614|PMID:32573669|PMID:33240318|PMID:8601312|PMID:9536098|PMID:9705288 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080690 RASopathy ISO RGD:737596 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10064593|PMID:10497893|PMID:11447113|PMID:12077328|PMID:12675918|PMID:16585161|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603484|PMID:17603485|PMID:17603486|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19020799|PMID:19357705|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22190897|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22786616|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23391722|PMID:23529931|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24732797|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25706034|PMID:25741868|PMID:25862627|PMID:25974318|PMID:26266034|PMID:26467025|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26659599|PMID:26918529|PMID:27040691|PMID:27631234|PMID:27763634|PMID:28069802|PMID:28166811|PMID:28492532|PMID:28750076|PMID:28777121|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29232918|PMID:29493581|PMID:29522511|PMID:29532030|PMID:29907801|PMID:29948256|PMID:30105547|PMID:30138938|PMID:30157809|PMID:30204961|PMID:30384889|PMID:30417923|PMID:30548201|PMID:30732632|PMID:30904638|PMID:31030682|PMID:31145547|PMID:31292302|PMID:31560489|PMID:31589614|PMID:32573669|PMID:33240318|PMID:33318624|PMID:8601312|PMID:9536098|PMID:9705288 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080690 RASopathy ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10064593|PMID:10497893|PMID:11447113|PMID:12077328|PMID:12675918|PMID:12925535|PMID:14701845|PMID:16585161|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603484|PMID:17603485|PMID:17603486|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19020799|PMID:19357705|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22190897|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22786616|PMID:22810696|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23391722|PMID:23529931|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24451042|PMID:24732797|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25640679|PMID:25706034|PMID:25741868|PMID:25862627|PMID:25974318|PMID:26266034|PMID:26467025|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26656175|PMID:26659599|PMID:26918529|PMID:27040691|PMID:27631234|PMID:27753652|PMID:27763634|PMID:28069802|PMID:28492532|PMID:28750076|PMID:28777121|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29232918|PMID:29271604|PMID:29493581|PMID:29522511|PMID:29532030|PMID:29907801|PMID:29948256|PMID:30105547|PMID:30138938|PMID:30157809|PMID:30204961|PMID:30359267|PMID:30384889|PMID:30417923|PMID:30548201|PMID:30732632|PMID:30904638|PMID:31030682|PMID:31145547|PMID:31292302|PMID:31560489|PMID:31589614|PMID:31983221|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33111339|PMID:33240318|PMID:33318624|PMID:33673806|PMID:8601312|PMID:9536098|PMID:9705288 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737596 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:17603482|PMID:17603483|PMID:17603487|PMID:17603489|PMID:18241070|PMID:18505544|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21784453|PMID:22465605|PMID:22781091|PMID:22826437|PMID:23321623|PMID:24033266|PMID:24803665|PMID:25741868|PMID:26266034|PMID:26580448|PMID:26918529|PMID:28492532|PMID:28750076|PMID:29493581|PMID:29522511|PMID:29948256 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:737596 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:25741868|PMID:28492532 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0110432 dilated cardiomyopathy 1NN ISO RGD:737596 D RGD:7240710 20180130 OMIM 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0110432 dilated cardiomyopathy 1NN ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1NN PMID:10064593|PMID:12077328|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603485|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:21440552|PMID:21784453|PMID:22389993|PMID:22465605|PMID:23312806|PMID:23321623|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24775816|PMID:24777450|PMID:25706034|PMID:25741868|PMID:26467173|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:30105547|PMID:30138938|PMID:30384889|PMID:31560489|PMID:31589614|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:8601312 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:737596 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:22558107|PMID:24033266|PMID:25741868|PMID:28492532 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:10283 prostate cancer disease_progression ISO RGD:737596 D RGD:9068941 20200609 RGD PMID:15666389|REF_RGD_ID:13506811 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17603482|PMID:17603483 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:12930 dilated cardiomyopathy ISO RGD:737596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24777450|PMID:25741868|PMID:28492532 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:12930 dilated cardiomyopathy ISO RGD:737596 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24777450|PMID:25741868|PMID:28492532|PMID:29493581 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathic lentiginosis | ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines PMID:10064593|PMID:11447113|PMID:12077328|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603489|PMID:18241070|PMID:18505544|PMID:19568997|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22389993|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23877478|PMID:24033266|PMID:24775816|PMID:24803665|PMID:25706034|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27631234|PMID:27753652|PMID:27763634|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:29948256|PMID:30105547|PMID:30138938|PMID:30384889|PMID:30732632|PMID:31560489|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:8601312 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:14780 KBG syndrome ISO RGD:737596 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:25741868|PMID:28492532 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:1790 malignant mesothelioma ISO RGD:737596 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:1909 melanoma ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10064593|PMID:12077328|PMID:1760348|PMID:17603482|PMID:17603483|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:21440552|PMID:21784453|PMID:22389993|PMID:23312806|PMID:23321623|PMID:23737487|PMID:23877478|PMID:24033266|PMID:24775816|PMID:25706034|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:30105547|PMID:30138938|PMID:30384889|PMID:31560489|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:8601312 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:737596 D RGD:9068941 20200609 RGD PMID:15754006|REF_RGD_ID:13506897 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:3070 high grade glioma ISO RGD:737596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioma 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:326 ischemia ISO RGD:11215 D RGD:9068941 20200609 RGD PMID:16172266|REF_RGD_ID:1580696 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:3490 Noonan syndrome ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:10064593|PMID:11447113|PMID:11933072|PMID:12077328|PMID:12675918|PMID:14701845|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603484|PMID:17603485|PMID:17603486|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:19020799|PMID:19568997|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22190897|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24732797|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25706034|PMID:25741868|PMID:25862627|PMID:26266034|PMID:26467025|PMID:26580448|PMID:26619011|PMID:26659599|PMID:26918529|PMID:27040691|PMID:27631234|PMID:27753652|PMID:27763634|PMID:28492532|PMID:28777121|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29271604|PMID:29493581|PMID:29522511|PMID:29907801|PMID:29948256|PMID:30105547|PMID:30138938|PMID:30157809|PMID:30384889|PMID:30732632|PMID:31030682|PMID:31145547|PMID:31292302|PMID:31560489|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:33318624|PMID:33673806|PMID:8601312 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:3717 gastric adenocarcinoma ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:10064593|PMID:12077328|PMID:1760348|PMID:17603482|PMID:17603483|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:21440552|PMID:21784453|PMID:22389993|PMID:23312806|PMID:23321623|PMID:23877478|PMID:24033266|PMID:24775816|PMID:25706034|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:30105547|PMID:30138938|PMID:30384889|PMID:31560489|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:8601312 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:737596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16862215 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:3910 lung adenocarcinoma ISO RGD:737596 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:10064593|PMID:12077328|PMID:1760348|PMID:17603482|PMID:17603483|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:21440552|PMID:21784453|PMID:22389993|PMID:23312806|PMID:23321623|PMID:23877478|PMID:24033266|PMID:24775816|PMID:25706034|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:30105547|PMID:30138938|PMID:30384889|PMID:31560489|PMID:32573669|PMID:33240318|PMID:8601312 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:3910 lung adenocarcinoma ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:10064593|PMID:12077328|PMID:1760348|PMID:17603482|PMID:17603483|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:21440552|PMID:21784453|PMID:22389993|PMID:23312806|PMID:23321623|PMID:23877478|PMID:24033266|PMID:24775816|PMID:25706034|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:30105547|PMID:30138938|PMID:30384889|PMID:31560489|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:8601312 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:4001 ovarian carcinoma ISO RGD:737596 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:737596 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:15014358|REF_RGD_ID:14392893 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:4905 pancreatic carcinoma ISO RGD:3531 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (rat) PMID:2278633|REF_RGD_ID:14392892 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:630 genetic disease ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10064593|PMID:12077328|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603487|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20683980|PMID:21440552|PMID:21784453|PMID:22389993|PMID:22465605|PMID:22781091|PMID:23312806|PMID:23321623|PMID:23877478|PMID:24033266|PMID:24775816|PMID:24777450|PMID:25706034|PMID:25741868|PMID:26266034|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:30105547|PMID:30138938|PMID:30384889|PMID:31560489|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:8601312 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:8923 skin melanoma ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:10064593|PMID:12077328|PMID:1760348|PMID:17603482|PMID:17603483|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:21440552|PMID:21784453|PMID:22389993|PMID:23312806|PMID:23321623|PMID:23877478|PMID:24033266|PMID:24775816|PMID:25706034|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:30105547|PMID:30138938|PMID:30384889|PMID:31560489|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:8601312 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:737596 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:34540771 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9002211 Hyperalgesia ISO RGD:737596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18976650 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9002265 Kidney Neoplasms ISO RGD:737596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21813464 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:737596 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32512071 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9002335 Lymphangiectasis ISO RGD:11215 D RGD:9068941 20200609 RGD DNA:point mutation:exon :p.S259A (mouse) PMID:23391722|REF_RGD_ID:12910710 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9003936 Cardiomegaly ISO RGD:11215 D RGD:9068941 20200609 RGD DNA:point mutation:exon:p.D486N (mouse) PMID:22826437|REF_RGD_ID:12910709 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:737596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9005141 Ventricular Tachycardia ISO RGD:737596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9005172 Lung Neoplasms ISO RGD:737596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11884234 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9007096 Stroke ISO RGD:737596 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9007188 Liver Neoplasms ISO RGD:737596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19499222 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9008443 Colorectal Neoplasms ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:10064593|PMID:12077328|PMID:1760348|PMID:17603482|PMID:17603483|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:21440552|PMID:21784453|PMID:22389993|PMID:23312806|PMID:23321623|PMID:23877478|PMID:24033266|PMID:24775816|PMID:25706034|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:30105547|PMID:30138938|PMID:30384889|PMID:31560489|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:8601312 12049163 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:737596 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12432273 12049190 IMMT inner membrane mitochondrial protein gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1321729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 12049190 IMMT inner membrane mitochondrial protein gene DOID:630 genetic disease ISO RGD:1321729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049190 IMMT inner membrane mitochondrial protein gene DOID:8398 osteoarthritis ISO RGD:1321729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12049190 IMMT inner membrane mitochondrial protein gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1321729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 12049190 IMMT inner membrane mitochondrial protein gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12049219 FIGLA folliculogenesis specific bHLH transcription factor gene DOID:0080863 primary ovarian insufficiency 6 ISO RGD:1602165 D RGD:7240710 20180130 OMIM 12049219 FIGLA folliculogenesis specific bHLH transcription factor gene DOID:0080863 primary ovarian insufficiency 6 ISO RGD:1602165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 6 PMID:18499083|PMID:25314148|PMID:25741868|PMID:29914564|PMID:30474133 12049219 FIGLA folliculogenesis specific bHLH transcription factor gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1602165 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 12049219 FIGLA folliculogenesis specific bHLH transcription factor gene DOID:543 dystonia ISO RGD:1602165 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12049219 FIGLA folliculogenesis specific bHLH transcription factor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1602165 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 12049219 FIGLA folliculogenesis specific bHLH transcription factor gene DOID:630 genetic disease ISO RGD:1602165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049219 FIGLA folliculogenesis specific bHLH transcription factor gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1602165 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12049228 LIX1 limb and CNS expressed 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343566 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12049228 LIX1 limb and CNS expressed 1 gene DOID:630 genetic disease ISO RGD:1343566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049228 LIX1 limb and CNS expressed 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12049228 LIX1 limb and CNS expressed 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343566 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12049238 LRRC75B leucine rich repeat containing 75B gene DOID:1826 epilepsy ISO RGD:1606646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12049238 LRRC75B leucine rich repeat containing 75B gene DOID:5419 schizophrenia ISO RGD:1606646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12049238 LRRC75B leucine rich repeat containing 75B gene DOID:630 genetic disease ISO RGD:1606646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049246 CREB1 cAMP responsive element binding protein 1 gene DOID:0060001 withdrawal disorder ISO RGD:730886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18596687 12049246 CREB1 cAMP responsive element binding protein 1 gene DOID:11446 sciatic neuropathy ISO RGD:620218 D RGD:9068941 20200609 RGD protein:increased phosphorylation:nucleus PMID:19918364|REF_RGD_ID:10059430 12049246 CREB1 cAMP responsive element binding protein 1 gene DOID:11870 Pick's disease ISO RGD:730886 D RGD:9068941 20200609 RGD PMID:16496165|REF_RGD_ID:10047401 12049246 CREB1 cAMP responsive element binding protein 1 gene DOID:11870 Pick's disease ISO RGD:730886 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex PMID:17548164|REF_RGD_ID:10047402 12049246 CREB1 cAMP responsive element binding protein 1 gene DOID:12858 Huntington's disease ISO RGD:620218 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:neuron: PMID:16420411|REF_RGD_ID:10059577 12049246 CREB1 cAMP responsive element binding protein 1 gene DOID:12858 Huntington's disease ISO RGD:730887 D RGD:9068941 20200609 RGD PMID:11967539|REF_RGD_ID:734817 12049246 CREB1 cAMP responsive element binding protein 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:730887 D RGD:9068941 20200609 RGD PMID:9616213|REF_RGD_ID:734815 12049246 CREB1 cAMP responsive element binding protein 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:730886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12049246 CREB1 cAMP responsive element binding protein 1 gene DOID:224 transient cerebral ischemia ISO RGD:620218 D RGD:9068941 20200609 RGD PMID:10077326|REF_RGD_ID:10047405 12049246 CREB1 cAMP responsive element binding protein 1 gene DOID:2316 brain ischemia treatment ISO RGD:620218 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression,decreased phosphorylation:brain: PMID:23644141|REF_RGD_ID:10059580 12049246 CREB1 cAMP responsive element binding protein 1 gene DOID:2560 morphine dependence ISO RGD:730886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11717377 12049246 CREB1 cAMP responsive element binding protein 1 gene DOID:4621 holoprosencephaly ISO RGD:730887 D RGD:9068941 20200609 RGD protein:increased localization: prechordal mesoderm, nucleus PMID:18338389|REF_RGD_ID:12801437 12049246 CREB1 cAMP responsive element binding protein 1 gene DOID:5419 schizophrenia ISO RGD:730886 D RGD:9068941 20200609 RGD protein:increased expression:cerebellar vermis PMID:10891039|REF_RGD_ID:10047412 12049246 CREB1 cAMP responsive element binding protein 1 gene DOID:5844 myocardial infarction ISO RGD:730886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19027736 12049246 CREB1 cAMP responsive element binding protein 1 gene DOID:630 genetic disease ISO RGD:730886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049246 CREB1 cAMP responsive element binding protein 1 gene DOID:8923 skin melanoma ISO RGD:730886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29179997 12049246 CREB1 cAMP responsive element binding protein 1 gene DOID:9000669 Ventricular Dysfunction, Right treatment ISO RGD:620218 D RGD:9068941 20220916 RGD PMID:22523357|REF_RGD_ID:155226858 12049246 CREB1 cAMP responsive element binding protein 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29179997 12049246 CREB1 cAMP responsive element binding protein 1 gene DOID:9002138 Spinal Cord Reperfusion Injury treatment ISO RGD:620218 D RGD:9068941 20220916 RGD PMID:17368520|PMID:29310813|REF_RGD_ID:155226865|REF_RGD_ID:155226868 12049246 CREB1 cAMP responsive element binding protein 1 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:620218 D RGD:9068941 20200609 RGD PMID:15862029|REF_RGD_ID:10059365 12049246 CREB1 cAMP responsive element binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12049246 CREB1 cAMP responsive element binding protein 1 gene DOID:9005086 Angiomatoid Fibrous Histiocytoma ISO RGD:730886 D RGD:7240710 20180130 OMIM 12049246 CREB1 cAMP responsive element binding protein 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11717377|PMID:16359811|PMID:18596687 12049246 CREB1 cAMP responsive element binding protein 1 gene DOID:9008023 Memory Disorders ISO RGD:620218 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:14670355|REF_RGD_ID:10059396 12049246 CREB1 cAMP responsive element binding protein 1 gene DOID:9452 fatty liver disease ISO RGD:730887 D RGD:9068941 20200609 RGD PMID:14614508|REF_RGD_ID:734818 12049246 CREB1 cAMP responsive element binding protein 1 gene DOID:9993 hypoglycemia ISO RGD:730887 D RGD:9068941 20200609 RGD PMID:11557984|REF_RGD_ID:734816 12049281 LOC100975309 keratin, type I cytoskeletal 14 gene DOID:0060735 epidermolysis bullosa simplex Dowling-Meara type ISO RGD:1316672 D RGD:9068941 20220825 MouseDO OMIM:131760 12049281 LOC100975309 keratin, type I cytoskeletal 14 gene DOID:0080511 epidermolysis bullosa simplex generalized type ISO RGD:1316671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type PMID:10583131|PMID:11331879|PMID:11710919|PMID:11990248|PMID:16098032|PMID:1703046|PMID:1717157|PMID:1720261|PMID:20151404|PMID:20301543|PMID:21623745|PMID:2365356|PMID:25326635|PMID:25741868|PMID:26743602|PMID:28492532|PMID:31957133|PMID:7682883 12049281 LOC100975309 keratin, type I cytoskeletal 14 gene DOID:0111342 dermatopathia pigmentosa reticularis ISO RGD:1316671 D RGD:7240710 20180130 OMIM 12049281 LOC100975309 keratin, type I cytoskeletal 14 gene DOID:0111342 dermatopathia pigmentosa reticularis ISO RGD:1316671 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dermatopathia pigmentosa reticularis PMID:10730767|PMID:11710919|PMID:1303619|PMID:16098032|PMID:1717157|PMID:20301543|PMID:25741868|PMID:26743602|PMID:28492532 12049281 LOC100975309 keratin, type I cytoskeletal 14 gene DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome ISO RGD:1316671 D RGD:7240710 20180130 OMIM 12049281 LOC100975309 keratin, type I cytoskeletal 14 gene DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome ISO RGD:1316671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Naegeli-Franceschetti-Jadassohn syndrome PMID:13141721|PMID:8496458 12049281 LOC100975309 keratin, type I cytoskeletal 14 gene DOID:10123 pigmentation disease ISO RGD:1316671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16960809 12049281 LOC100975309 keratin, type I cytoskeletal 14 gene DOID:14501 Sjogren-Larsson syndrome ISO RGD:1316671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sjögren-Larsson syndrome PMID:10971341|PMID:16614722|PMID:25741868|PMID:27283507|PMID:28492532|PMID:28830826|PMID:29130490 12049281 LOC100975309 keratin, type I cytoskeletal 14 gene DOID:1749 squamous cell carcinoma ISO RGD:1316671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16543248 12049281 LOC100975309 keratin, type I cytoskeletal 14 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1316671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16543248 12049281 LOC100975309 keratin, type I cytoskeletal 14 gene DOID:4644 epidermolysis bullosa simplex ISO RGD:1316671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive PMID:10583131|PMID:10971341|PMID:11331879|PMID:12925204|PMID:16098032|PMID:16614722|PMID:1717157|PMID:20151404|PMID:20301543|PMID:21623745|PMID:25326635|PMID:25741868|PMID:26743602|PMID:27283507|PMID:28492532|PMID:28830826|PMID:29130490|PMID:31957133|PMID:8601736 12049281 LOC100975309 keratin, type I cytoskeletal 14 gene DOID:4644 epidermolysis bullosa simplex susceptibility ISO RGD:1316671 D RGD:9068941 20200609 RGD DNA:point mutations PMID:1717157|REF_RGD_ID:1600173 12049281 LOC100975309 keratin, type I cytoskeletal 14 gene DOID:630 genetic disease ISO RGD:1316671 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12049281 LOC100975309 keratin, type I cytoskeletal 14 gene DOID:7134 esophagus small cell carcinoma ISO RGD:1307463 D RGD:9068941 20200609 RGD protein:increased expression:esophagus PMID:16140947|REF_RGD_ID:1600174 12049281 LOC100975309 keratin, type I cytoskeletal 14 gene DOID:9000523 Generalized Epidermolysis Bullosa Simplex 1B ISO RGD:1316671 D RGD:7240710 20211027 OMIM 12049281 LOC100975309 keratin, type I cytoskeletal 14 gene DOID:9000523 Generalized Epidermolysis Bullosa Simplex 1B ISO RGD:1316671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type PMID:10583131|PMID:11331879|PMID:11710919|PMID:11990248|PMID:16098032|PMID:1703046|PMID:1717157|PMID:1720261|PMID:20151404|PMID:20301543|PMID:21623745|PMID:2365356|PMID:25326635|PMID:25741868|PMID:26743602|PMID:28492532|PMID:31957133|PMID:7682883 12049281 LOC100975309 keratin, type I cytoskeletal 14 gene DOID:9000954 Parakeratosis ISO RGD:1307463 D RGD:9068941 20200609 RGD PMID:15809047|REF_RGD_ID:1600175 12049281 LOC100975309 keratin, type I cytoskeletal 14 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1307463 D RGD:9068941 20200609 RGD mRNA:decreased expression:epithelial cell PMID:9876218|REF_RGD_ID:1600180 12049281 LOC100975309 keratin, type I cytoskeletal 14 gene DOID:9002302 Generalized Severe Epidermolysis Bullosa Simplex 1A ISO RGD:1316671 D RGD:7240710 20211103 OMIM 12049281 LOC100975309 keratin, type I cytoskeletal 14 gene DOID:9002302 Generalized Severe Epidermolysis Bullosa Simplex 1A ISO RGD:1316671 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A, generalized severe PMID:10583131|PMID:10730767|PMID:11331879|PMID:11710919|PMID:16098032|PMID:16439965|PMID:1717157|PMID:20151404|PMID:20301543|PMID:21623745|PMID:25326635|PMID:25741868|PMID:26743602|PMID:27283507|PMID:28492532|PMID:31957133|PMID:9804355 12049281 LOC100975309 keratin, type I cytoskeletal 14 gene DOID:9002684 Localized Epidermolysis Bullosa Simplex 1C ISO RGD:1316671 D RGD:7240710 20211103 OMIM 12049281 LOC100975309 keratin, type I cytoskeletal 14 gene DOID:9002684 Localized Epidermolysis Bullosa Simplex 1C ISO RGD:1316671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized PMID:11710919|PMID:17039244|PMID:23746086|PMID:25741868|PMID:27283507|PMID:28492532|PMID:32884918|PMID:32885477|PMID:7506606|PMID:7561171|PMID:9284105 12049281 LOC100975309 keratin, type I cytoskeletal 14 gene DOID:9005873 Tongue Neoplasms ISO RGD:1316671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16543248 12049281 LOC100975309 keratin, type I cytoskeletal 14 gene DOID:9006519 Generalized Epidermolysis Bullosa Simplex 1D ISO RGD:1316671 D RGD:7240710 20180130 OMIM 12049281 LOC100975309 keratin, type I cytoskeletal 14 gene DOID:9006519 Generalized Epidermolysis Bullosa Simplex 1D ISO RGD:1316671 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive PMID:10971341|PMID:16614722|PMID:25741868|PMID:27283507|PMID:28492532|PMID:28830826|PMID:29130490|PMID:7525407|PMID:7525408|PMID:7526933|PMID:8875963 12049281 LOC100975309 keratin, type I cytoskeletal 14 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1316671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22011395 12049281 LOC100975309 keratin, type I cytoskeletal 14 gene DOID:9008939 Breast Neoplasms ISO RGD:1316671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25330770 12049294 FAM151A family with sequence similarity 151 member A gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1603341 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs11206394) G>C (human) PMID:27354594|REF_RGD_ID:152177496 12049294 FAM151A family with sequence similarity 151 member A gene DOID:630 genetic disease ISO RGD:1603341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049306 PRR3 proline rich 3 gene DOID:11372 megacolon ISO RGD:1343981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12049306 PRR3 proline rich 3 gene DOID:630 genetic disease ISO RGD:1343981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049318 NCAPD2 non-SMC condensin I complex subunit D2 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1604840 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12049318 NCAPD2 non-SMC condensin I complex subunit D2 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1604840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12049318 NCAPD2 non-SMC condensin I complex subunit D2 gene DOID:0111621 Temtamy syndrome ISO RGD:1604840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12049318 NCAPD2 non-SMC condensin I complex subunit D2 gene DOID:630 genetic disease ISO RGD:1604840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049318 NCAPD2 non-SMC condensin I complex subunit D2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1604840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12049318 NCAPD2 non-SMC condensin I complex subunit D2 gene DOID:9009171 Primary Autosomal Recessive Microcephaly 21 ISO RGD:1604840 D RGD:7240710 20190315 OMIM 12049318 NCAPD2 non-SMC condensin I complex subunit D2 gene DOID:9009171 Primary Autosomal Recessive Microcephaly 21 ISO RGD:1604840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 21, primary, autosomal recessive PMID:25741868|PMID:27737959 12049354 CABLES1 Cdk5 and Abl enzyme substrate 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1313589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 12049354 CABLES1 Cdk5 and Abl enzyme substrate 1 gene DOID:1059 intellectual disability ISO RGD:1313589 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12049354 CABLES1 Cdk5 and Abl enzyme substrate 1 gene DOID:630 genetic disease ISO RGD:1313589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049354 CABLES1 Cdk5 and Abl enzyme substrate 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17982127 12049367 SERINC5 serine incorporator 5 gene DOID:630 genetic disease ISO RGD:1604715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049367 SERINC5 serine incorporator 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12049388 HEXD hexosaminidase D gene DOID:630 genetic disease ISO RGD:1602417 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049404 IL12A interleukin 12A gene DOID:12236 primary biliary cholangitis ISO RGD:1351047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20639880 12049404 IL12A interleukin 12A gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:1351047 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs6441286, rs574808(human) PMID:19458352|REF_RGD_ID:25440500 12049404 IL12A interleukin 12A gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:1351047 D RGD:9068941 20200609 RGD DNA:SNPs:enhancer:rs4679868, rs6441286, rs666251(human) PMID:27175695|REF_RGD_ID:25440489 12049404 IL12A interleukin 12A gene DOID:12236 primary biliary cholangitis treatment ISO RGD:1351047 D RGD:9068941 20200609 RGD DNA:SNP: :rs62270414(human) PMID:23433321|REF_RGD_ID:25440498 12049404 IL12A interleukin 12A gene DOID:12894 Sjogren's syndrome ISO RGD:1351047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 12049404 IL12A interleukin 12A gene DOID:1883 hepatitis C disease_progression ISO RGD:1351047 D RGD:9068941 20200609 RGD associated with diabetes mellitus; PMID:30243010|REF_RGD_ID:25440502 12049404 IL12A interleukin 12A gene DOID:1883 hepatitis C susceptibility ISO RGD:1351047 D RGD:9068941 20200609 RGD DNA:SNP:3'UTR: rs568408( G>A)(human) PMID:27819525|REF_RGD_ID:25440490 12049404 IL12A interleukin 12A gene DOID:2377 multiple sclerosis ISO RGD:1351047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24076602 12049404 IL12A interleukin 12A gene DOID:2841 asthma ISO RGD:732140 D RGD:9068941 20200609 RGD PMID:17056578|PMID:17548618|REF_RGD_ID:4373570|REF_RGD_ID:4438438 12049404 IL12A interleukin 12A gene DOID:3070 high grade glioma ISO RGD:1351047 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18176109 12049404 IL12A interleukin 12A gene DOID:630 genetic disease ISO RGD:1351047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049404 IL12A interleukin 12A gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1351047 D RGD:9068941 20200609 RGD DNA:SNP:3'UTR: rs568408( G>A)(human) PMID:20521253|REF_RGD_ID:25440491 12049404 IL12A interleukin 12A gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1351047 D RGD:9068941 20200609 RGD associated with hepatitis B; DNA:SNP, haplotype:3′UTR :rs568408(human) PMID:26631030|REF_RGD_ID:25440501 12049404 IL12A interleukin 12A gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1351047 D RGD:9068941 20200609 RGD associated with hepatitis C;DNA:SNP:3'UTR: rs568408( G>A)(human) PMID:27819525|REF_RGD_ID:25440490 12049404 IL12A interleukin 12A gene DOID:9002170 Experimental Neoplasms ISO RGD:1351047 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17332360 12049404 IL12A interleukin 12A gene DOID:9002395 Hypothermia ISO RGD:1351047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16369138 12049404 IL12A interleukin 12A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:732140 D RGD:9068941 20200609 RGD PMID:12471147|REF_RGD_ID:724447 12049404 IL12A interleukin 12A gene DOID:9004009 Reperfusion Injury ISO RGD:1351047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 12049404 IL12A interleukin 12A gene DOID:9007188 Liver Neoplasms ISO RGD:1351047 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17326190 12049404 IL12A interleukin 12A gene DOID:9008163 Chronic Hepatitis B ISO RGD:1351047 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:26062743|REF_RGD_ID:11097839 12049415 THAP10 THAP domain containing 10 gene DOID:2717 Bloom syndrome ISO RGD:1352281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12049415 THAP10 THAP domain containing 10 gene DOID:630 genetic disease ISO RGD:1352281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049415 THAP10 THAP domain containing 10 gene DOID:9256 colorectal cancer ISO RGD:1352281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:68533 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:0050685 small cell carcinoma ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20946520 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:0050746 mantle cell lymphoma ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17148679 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:0060041 autism spectrum disorder ISO RGD:68533 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:68533 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:68533 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:0080162 lupus nephritis ISO RGD:68534 D RGD:9068941 20200609 RGD PMID:17283580|REF_RGD_ID:7245502 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:0080322 polycystic kidney disease ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:22160773|REF_RGD_ID:7245545 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:0080448 developmental and epileptic encephalopathy 48 ISO RGD:68533 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 48 PMID:25741868 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:0080855 Parkinsonism treatment ISO RGD:68534 D RGD:9068941 20200609 RGD PMID:20089925|REF_RGD_ID:10040992 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22729223 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:68371 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:cholangiocyte PMID:24498161|REF_RGD_ID:10040950 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:0111936 immunodeficiency 14 ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:10283 prostate cancer treatment ISO RGD:68533 D RGD:9068941 20200609 RGD PMID:23094058|REF_RGD_ID:10041034 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:1059 intellectual disability ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:23636326|PMID:24631838|PMID:25741868|PMID:25851998|PMID:26542245|PMID:27159400|PMID:27513193|PMID:27753196|PMID:28475857|PMID:28492532|PMID:28892148|PMID:31441589|PMID:32581362|PMID:33077954 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:10762 portal hypertension treatment ISO RGD:68371 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis PMID:24404143|REF_RGD_ID:10041031 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:10763 hypertension ISO RGD:68371 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:kidney PMID:23323219|REF_RGD_ID:10041025 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:10763 hypertension ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19289642 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:10952 nephritis ISO RGD:68534 D RGD:9068941 20200609 RGD PMID:22696604|REF_RGD_ID:7245508 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:11054 urinary bladder cancer ISO RGD:68533 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36115647 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:11054 urinary bladder cancer treatment ISO RGD:68534 D RGD:9068941 20200609 RGD PMID:19261747|REF_RGD_ID:10040979 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:11446 sciatic neuropathy ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:20452291|REF_RGD_ID:10041037 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:12118 pulmonary hemosiderosis ISO RGD:68533 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Idiopathic pulmonary hemosiderosis PMID:25741868 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:13139 crescentic glomerulonephritis ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:21403644|REF_RGD_ID:7245940 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:13316 exocrine pancreatic insufficiency ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29384525 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:13949 interstitial cystitis ISO RGD:68533 D RGD:9068941 20200609 RGD PMID:22738385|REF_RGD_ID:7245526 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:1793 pancreatic cancer ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:23149918|REF_RGD_ID:10040959 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:1824 status epilepticus ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:23724051|REF_RGD_ID:10041026 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:1824 status epilepticus ISO RGD:68371 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:hippocampus PMID:23211629|REF_RGD_ID:7175521 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:1826 epilepsy ISO RGD:68533 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:27830187|PMID:28492532 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:1909 melanoma ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:20190810|PMID:24631838|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:1936 atherosclerosis ameliorates ISO RGD:68534 D RGD:9068941 20230330 RGD ApoE knockout mice PMID:30529164|REF_RGD_ID:243048424 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:219 colon cancer treatment ISO RGD:68371 D RGD:9068941 20210611 RGD PMID:33360052|REF_RGD_ID:127229954 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:224 transient cerebral ischemia treatment ISO RGD:68371 D RGD:9068941 20230105 RGD PMID:30712471|REF_RGD_ID:155791663 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:2671 transitional cell carcinoma ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:24625776 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:2797 idiopathic interstitial pneumonia ISO RGD:68533 D RGD:9068941 20200609 RGD PMID:21444868|REF_RGD_ID:7245946 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:28 endocrine system disease ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29384525 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:299 adenocarcinoma ISO RGD:68533 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:18058806|PMID:33129824 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:3021 acute kidney failure ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:23022334|REF_RGD_ID:7245507 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:3068 glioblastoma ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:20190810|PMID:22729223|PMID:24631838|PMID:25599672|PMID:25741868|PMID:25799227|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187|PMID:28492532|PMID:28864461|PMID:28892148|PMID:29281825 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:3070 high grade glioma severity ISO RGD:68533 D RGD:9068941 20200609 RGD PMID:20878445|REF_RGD_ID:13702868 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:3328 temporal lobe epilepsy ISO RGD:68371 D RGD:9068941 20200609 RGD associated with Status Epilepticus PMID:19474323|REF_RGD_ID:10041000 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:3371 chondrosarcoma disease_progression ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:22761648|REF_RGD_ID:10040952 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:3525 middle cerebral artery infarction ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:24583056|REF_RGD_ID:10040971 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:21185267|PMID:23777415|REF_RGD_ID:10040974|REF_RGD_ID:10041016 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:3602 toxic encephalopathy ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16955484 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:363 uterine cancer ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:20190810|PMID:24631838|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:3717 gastric adenocarcinoma ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:26619011 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:3770 pulmonary fibrosis ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28936961 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:4450 renal cell carcinoma ISO RGD:68533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:20190810|PMID:22729223|PMID:24631838|PMID:25599672|PMID:25741868|PMID:25799227|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187|PMID:28492532|PMID:28864461|PMID:28892148|PMID:29281825 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:4451 renal carcinoma ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal carcinoma PMID:17360675|PMID:20190810|PMID:24622468|PMID:24631838|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27482884|PMID:27830187|PMID:29281825 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:4465 papillary renal cell carcinoma ISO RGD:68533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:20190810|PMID:24631838|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:4905 pancreatic carcinoma treatment ISO RGD:68534 D RGD:9068941 20200609 RGD PMID:25425965|REF_RGD_ID:11570510 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:5199 ureteral obstruction ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:22085202|REF_RGD_ID:10041001 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:68533 D RGD:9068941 20200609 RGD DNA:SNP: :rs2536(human) PMID:28280736|REF_RGD_ID:13825123 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:5419 schizophrenia ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:5419 schizophrenia treatment ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:23027611|REF_RGD_ID:10041022 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19246562 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:5844 myocardial infarction ISO RGD:68371 D RGD:9068941 20200609 RGD protein:decreased serine phosphorylation:heart PMID:20352476|REF_RGD_ID:10041035 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:5844 myocardial infarction treatment ISO RGD:68371 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23773982|REF_RGD_ID:10041040 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:6000 congestive heart failure ISO RGD:68533 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart PMID:20861467|REF_RGD_ID:10003169 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:630 genetic disease ISO RGD:68533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23636326|PMID:24631838|PMID:25741868|PMID:25851998|PMID:26542245|PMID:27159400|PMID:27513193|PMID:27753196|PMID:28475857|PMID:28492532|PMID:28892148|PMID:31441589|PMID:32581362|PMID:33077954 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:6432 pulmonary hypertension ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:23470622|REF_RGD_ID:10041039 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:684 hepatocellular carcinoma ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:684 hepatocellular carcinoma severity ISO RGD:68533 D RGD:9068941 20220623 RGD mRNA, protein:increased expression:liver (human) PMID:25371154|REF_RGD_ID:152995471 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:767 muscular atrophy treatment ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:19260063|REF_RGD_ID:10041027 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:783 end stage renal disease treatment ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:22427849|REF_RGD_ID:10040968 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:8398 osteoarthritis ISO RGD:68534 D RGD:9068941 20200609 RGD PMID:24651621|REF_RGD_ID:10003163 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:8398 osteoarthritis treatment ISO RGD:68534 D RGD:9068941 20200609 RGD PMID:22084394|REF_RGD_ID:10003165 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:8411 kidney angiomyolipoma treatment ISO RGD:68533 D RGD:9068941 20200609 RGD associated with Tuberous Sclerosis PMID:23054313|REF_RGD_ID:7245506 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:8725 vascular dementia ISO RGD:68371 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:23053837|REF_RGD_ID:10401142 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:8923 skin melanoma ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:20190810|PMID:24631838|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:68533 D RGD:9068941 20200609 RGD PMID:23195001|REF_RGD_ID:7245504 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:20678995|REF_RGD_ID:10040962 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9000081 Lymphatic Metastasis ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9000310 Lung Injury ISO RGD:68533 D RGD:9068941 20200609 RGD PMID:22483544|REF_RGD_ID:7245567 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9000547 CEBALID Syndrome ISO RGD:68533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CEBALID syndrome | ClinVar Annotator: match by term: MN1 C-TERMINAL TRUNCATION SYNDROME PMID:22729223|PMID:23636326|PMID:24625776|PMID:24631838|PMID:25599672|PMID:25741868|PMID:25799227|PMID:25851998|PMID:26542245|PMID:26619011|PMID:27159400|PMID:27513193|PMID:27753196|PMID:27830187|PMID:28475857|PMID:28492532|PMID:28892148|PMID:29051493|PMID:30569621|PMID:31441589|PMID:32581362|PMID:33077954 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9000887 Muscular Dystrophy, Animal ISO RGD:68534 D RGD:9068941 20200609 RGD PMID:20008564|REF_RGD_ID:10040985 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:68371 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:23149918|REF_RGD_ID:10040959 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:25454463|REF_RGD_ID:10040998 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:24204984|REF_RGD_ID:10041042 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9002153 Chronic Allograft Dysfunction treatment ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:23985719|REF_RGD_ID:10041002 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9002165 Diabetic Nephropathies ISO RGD:68371 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23827786|REF_RGD_ID:10003168 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9002165 Diabetic Nephropathies ISO RGD:68534 D RGD:9068941 20200609 RGD PMID:21606597|REF_RGD_ID:7245564 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:68533 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :rs7212142(human) PMID:28536139|REF_RGD_ID:13506787 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9002211 Hyperalgesia ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:24382350|REF_RGD_ID:10040983 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:68533 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:33129824 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9002457 Experimental Arthritis treatment ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:22391142|REF_RGD_ID:10041007 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:24602288|REF_RGD_ID:10041041 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9002762 Ovarian Neoplasms ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20138251|PMID:30705370 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9002928 Colonic Neoplasms ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:20190810|PMID:24631838|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9003566 Mesothelioma ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21358348 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9003816 Macrocephaly ISO RGD:68533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:28492532|PMID:33077954|PMID:34197453 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9003936 Cardiomegaly ISO RGD:68371 D RGD:9068941 20200609 RGD associated with Aortic Valve Stenosis PMID:20861467|REF_RGD_ID:10003169 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9004356 Smith-Kingsmore Syndrome ISO RGD:68533 D RGD:7240710 20180130 OMIM 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9004356 Smith-Kingsmore Syndrome ISO RGD:68533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MINDS SYNDROME | ClinVar Annotator: match by term: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | ClinVar Annotator: match by term: Neurodevelopmental disorder, MTOR related | ClinVar Annotator: match by term: Smith-Kingsmore syndrome PMID:17576681|PMID:21210909|PMID:23322780|PMID:23636326|PMID:24631838|PMID:25741868|PMID:25799227|PMID:25851998|PMID:26542245|PMID:26619011|PMID:27159400|PMID:27279227|PMID:27482884|PMID:27513193|PMID:27753196|PMID:27830187|PMID:28475857|PMID:28492532|PMID:28554332|PMID:28892148|PMID:29051493|PMID:29281825|PMID:31441589|PMID:31444548|PMID:32581362|PMID:33077954|PMID:9536098 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68533 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9004484 Sepsis ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:20577146|REF_RGD_ID:10041013 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:15367823|REF_RGD_ID:1582609 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19289642 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9005172 Lung Neoplasms treatment ISO RGD:68534 D RGD:9068941 20200609 RGD PMID:19966866|REF_RGD_ID:11568678 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:22349822|REF_RGD_ID:10040957 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9005290 Diabetes Mellitus, New-Onset after Transplantation ISO RGD:68533 D RGD:9068941 20200609 RGD PMID:22645144|REF_RGD_ID:10040997 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9005369 Hepatomegaly ISO RGD:68533 D RGD:9068941 20210312 CTD CTD Direct Evidence: therapeutic PMID:30641053 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9005372 Inflammation treatment ISO RGD:68371 D RGD:9068941 20200609 RGD associated with Status Epilepticus PMID:23211629|REF_RGD_ID:7175521 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:68371 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:muscle PMID:28536139|REF_RGD_ID:13506787 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:21357504|REF_RGD_ID:10041003 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9006281 Temporomandibular Joint Disorders ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:23386193|REF_RGD_ID:10041017 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9006599 Hypertriglyceridemia ISO RGD:68371 D RGD:9068941 20200609 RGD associated with Insulin Resistance PMID:20566415|REF_RGD_ID:10040984 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:68534 D RGD:9068941 20230302 RGD PMID:36044268|REF_RGD_ID:156430337 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:68533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:20190810|PMID:22729223|PMID:24631838|PMID:25599672|PMID:25741868|PMID:25799227|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187|PMID:28492532|PMID:28864461|PMID:28892148|PMID:29281825 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9007730 Burns ISO RGD:68371 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:skeletal muscle PMID:20594757|REF_RGD_ID:10041043 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9007748 Retinal Neovascularization ISO RGD:68534 D RGD:9068941 20200609 RGD associated with Oxygen-Induced Retinopathy PMID:25366488|REF_RGD_ID:10003164 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:20190810|PMID:24631838|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9008237 Hemimegalencephaly ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Unilateral Megalencephaly PMID:24631838|PMID:25799227|PMID:26619011|PMID:28864461|PMID:29281825 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9008394 Drug-Induced Dyskinesia treatment ISO RGD:68371 D RGD:9068941 20200609 RGD associated with Parkinsonian Disorders PMID:23938307|REF_RGD_ID:10040953 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:68533 D RGD:7240710 20190315 OMIM 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:68533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal cortical dysplasia of Taylor | ClinVar Annotator: match by term: Focal cortical dysplasia type 2 PMID:17360675|PMID:17576681|PMID:20190810|PMID:23636326|PMID:24631838|PMID:25741868|PMID:25799227|PMID:25851998|PMID:25878179|PMID:26018084|PMID:26542245|PMID:26619011|PMID:27159400|PMID:27482884|PMID:27513193|PMID:27753196|PMID:27830187|PMID:28475857|PMID:28492532|PMID:28892148|PMID:29281825|PMID:30569621|PMID:31441589|PMID:32581362|PMID:33077954|PMID:9536098 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9008443 Colorectal Neoplasms ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:20190810|PMID:24631838|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9008782 AIDS-Associated Nephropathy ISO RGD:68533 D RGD:9068941 20200609 RGD PMID:23678040|REF_RGD_ID:7245474 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9008782 AIDS-Associated Nephropathy ISO RGD:68534 D RGD:9068941 20200609 RGD PMID:23678040|REF_RGD_ID:7245474 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9008939 Breast Neoplasms ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:22729223|PMID:24631838|PMID:25599672|PMID:25741868|PMID:25799227|PMID:26619011|PMID:28492532|PMID:28864461|PMID:28892148|PMID:29281825 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:68371 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:hippocampus PMID:23165862|REF_RGD_ID:13506788 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:68533 D RGD:9068941 20200609 RGD DNA:SNP: :rs7212142(human) PMID:28536139|REF_RGD_ID:13506787 12049426 MTOR mechanistic target of rapamycin kinase gene DOID:9970 obesity ISO RGD:68371 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:hypothalamus PMID:25807795|REF_RGD_ID:11570513 12049494 POU2F2 POU class 2 homeobox 2 gene DOID:0050888 syndromic intellectual disability ISO RGD:1347223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 12049494 POU2F2 POU class 2 homeobox 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1347223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12049494 POU2F2 POU class 2 homeobox 2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1347223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12049494 POU2F2 POU class 2 homeobox 2 gene DOID:2340 craniosynostosis ISO RGD:1347223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:28492532 12049494 POU2F2 POU class 2 homeobox 2 gene DOID:5419 schizophrenia ISO RGD:1347223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12049494 POU2F2 POU class 2 homeobox 2 gene DOID:630 genetic disease ISO RGD:1347223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049494 POU2F2 POU class 2 homeobox 2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1347223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12049494 POU2F2 POU class 2 homeobox 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1347223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12049494 POU2F2 POU class 2 homeobox 2 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1347223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 12049494 POU2F2 POU class 2 homeobox 2 gene DOID:9269 maple syrup urine disease ISO RGD:1347223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12049533 TFF1 trefoil factor 1 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1344671 D RGD:9068941 20200609 RGD PMID:15375487|REF_RGD_ID:2292005 12049533 TFF1 trefoil factor 1 gene DOID:0060180 colitis ISO RGD:620707 D RGD:9068941 20200609 RGD PMID:8836141|REF_RGD_ID:625375 12049533 TFF1 trefoil factor 1 gene DOID:0080365 endometrial hyperplasia ISO RGD:1344671 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:9221798|REF_RGD_ID:2298572 12049533 TFF1 trefoil factor 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1344671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12049533 TFF1 trefoil factor 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:1344671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12049533 TFF1 trefoil factor 1 gene DOID:10283 prostate cancer ISO RGD:1344671 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:10458410|REF_RGD_ID:2298571 12049533 TFF1 trefoil factor 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1344671 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16467092|REF_RGD_ID:2291999 12049533 TFF1 trefoil factor 1 gene DOID:10534 stomach cancer ISO RGD:732017 D RGD:9068941 20220825 MouseDO OMIM:137215 | OMIM:613659 12049533 TFF1 trefoil factor 1 gene DOID:10608 celiac disease ISO RGD:1344671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 12049533 TFF1 trefoil factor 1 gene DOID:10808 gastric ulcer ISO RGD:620707 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:stomach mucosa PMID:11350545|REF_RGD_ID:2292012 12049533 TFF1 trefoil factor 1 gene DOID:11054 urinary bladder cancer ISO RGD:1344671 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:18283638|REF_RGD_ID:2291996 12049533 TFF1 trefoil factor 1 gene DOID:1380 endometrial cancer ISO RGD:1344671 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:endometrium PMID:10835496|REF_RGD_ID:2298569 12049533 TFF1 trefoil factor 1 gene DOID:2394 ovarian cancer ISO RGD:1344671 D RGD:9068941 20200609 RGD PMID:17624412|REF_RGD_ID:2292003 12049533 TFF1 trefoil factor 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1344671 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder urothelium PMID:7965392|REF_RGD_ID:2298573 12049533 TFF1 trefoil factor 1 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:1344671 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:9221798|REF_RGD_ID:2298572 12049533 TFF1 trefoil factor 1 gene DOID:3493 signet ring cell adenocarcinoma ISO RGD:1344671 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:18283638|REF_RGD_ID:2291996 12049533 TFF1 trefoil factor 1 gene DOID:3702 cervical adenocarcinoma ISO RGD:1344671 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:uterine cervix PMID:10727981|REF_RGD_ID:2298570 12049533 TFF1 trefoil factor 1 gene DOID:4001 ovarian carcinoma ISO RGD:1344671 D RGD:9068941 20200609 RGD PMID:9066601|REF_RGD_ID:2292004 12049533 TFF1 trefoil factor 1 gene DOID:630 genetic disease ISO RGD:1344671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049533 TFF1 trefoil factor 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1344671 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12049533 TFF1 trefoil factor 1 gene DOID:9001295 Achlorhydria ISO RGD:620707 D RGD:9068941 20200609 RGD protein:increased secretion:stomach PMID:11903739|REF_RGD_ID:2292010 12049533 TFF1 trefoil factor 1 gene DOID:9004610 Acute Lung Injury ISO RGD:1344671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19880587 12049533 TFF1 trefoil factor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1344671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21283680 12049533 TFF1 trefoil factor 1 gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:732017 D RGD:9068941 20200828 RGD mRNA:altered expression:gastric antrum (mouse) PMID:29085807|REF_RGD_ID:38549349 12049533 TFF1 trefoil factor 1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1344671 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:16267614|REF_RGD_ID:2292002 12049533 TFF1 trefoil factor 1 gene DOID:9263 homocystinuria ISO RGD:1344671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12049533 TFF1 trefoil factor 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1344671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12049540 OAF out at first homolog gene DOID:0060017 CD3epsilon deficiency ISO RGD:1602422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12049540 OAF out at first homolog gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1602422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12049540 OAF out at first homolog gene DOID:0080690 RASopathy ISO RGD:1602422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12049540 OAF out at first homolog gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1602422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12049540 OAF out at first homolog gene DOID:0111971 immunodeficiency 18 ISO RGD:1602422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12049540 OAF out at first homolog gene DOID:0111972 immunodeficiency 19 ISO RGD:1602422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12049540 OAF out at first homolog gene DOID:0111973 immunodeficiency 17 ISO RGD:1602422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12049540 OAF out at first homolog gene DOID:5419 schizophrenia ISO RGD:1602422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12049540 OAF out at first homolog gene DOID:630 genetic disease ISO RGD:1602422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049540 OAF out at first homolog gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1602422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12049540 OAF out at first homolog gene DOID:9007661 Dwarfism ISO RGD:1602422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12049548 USP28 ubiquitin specific peptidase 28 gene DOID:10283 prostate cancer ISO RGD:1323075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12049548 USP28 ubiquitin specific peptidase 28 gene DOID:1059 intellectual disability ISO RGD:1323075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12049548 USP28 ubiquitin specific peptidase 28 gene DOID:630 genetic disease ISO RGD:1323075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049548 USP28 ubiquitin specific peptidase 28 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1323075 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475|PMID:29662167 12049548 USP28 ubiquitin specific peptidase 28 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1323075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12049594 STAU1 staufen double-stranded RNA binding protein 1 gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:734025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 PMID:28492532 12049594 STAU1 staufen double-stranded RNA binding protein 1 gene DOID:1936 atherosclerosis ISO RGD:734025 D RGD:9068941 20230128 RGD associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) PMID:33381146|REF_RGD_ID:155882464 12049594 STAU1 staufen double-stranded RNA binding protein 1 gene DOID:450 myotonic disease ISO RGD:734025 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:27030674 12049594 STAU1 staufen double-stranded RNA binding protein 1 gene DOID:630 genetic disease ISO RGD:734025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049627 GARRE1 granule associated Rac and RHOG effector 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1318189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12049627 GARRE1 granule associated Rac and RHOG effector 1 gene DOID:630 genetic disease ISO RGD:1318189 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049656 ZBTB5 zinc finger and BTB domain containing 5 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1316525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12049656 ZBTB5 zinc finger and BTB domain containing 5 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1316525 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12049656 ZBTB5 zinc finger and BTB domain containing 5 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1316525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12049656 ZBTB5 zinc finger and BTB domain containing 5 gene DOID:630 genetic disease ISO RGD:1316525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049656 ZBTB5 zinc finger and BTB domain containing 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12049656 ZBTB5 zinc finger and BTB domain containing 5 gene DOID:9870 galactosemia ISO RGD:1316525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12049671 PYGB glycogen phosphorylase B gene DOID:0080202 adenoid cystic carcinoma ISO RGD:736182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12049671 PYGB glycogen phosphorylase B gene DOID:630 genetic disease ISO RGD:736182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049671 PYGB glycogen phosphorylase B gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:736182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12049671 PYGB glycogen phosphorylase B gene DOID:9007102 Myocardial Ischemia ISO RGD:736182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12049671 PYGB glycogen phosphorylase B gene DOID:9007661 Dwarfism ISO RGD:736182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12049694 ALKBH7 alkB homolog 7 gene DOID:0080490 mucolipidosis type IV ISO RGD:1352016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12049694 ALKBH7 alkB homolog 7 gene DOID:630 genetic disease ISO RGD:1352016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049712 CCDC126 coiled-coil domain containing 126 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12049712 CCDC126 coiled-coil domain containing 126 gene DOID:630 genetic disease ISO RGD:1602081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049712 CCDC126 coiled-coil domain containing 126 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12049729 GJB4 gap junction protein beta 4 gene DOID:0050467 erythrokeratodermia variabilis ISO RGD:1352157 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.F137L (human) PMID:11017804|REF_RGD_ID:1598971 12049729 GJB4 gap junction protein beta 4 gene DOID:0050467 erythrokeratodermia variabilis ISO RGD:1352157 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.C86S (c.256T>A) (human) PMID:23037955|REF_RGD_ID:12437072 12049729 GJB4 gap junction protein beta 4 gene DOID:0050467 erythrokeratodermia variabilis ISO RGD:1352157 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:multiple PMID:12648223|REF_RGD_ID:1598970 12049729 GJB4 gap junction protein beta 4 gene DOID:0080248 erythrokeratodermia variabilis et progressiva 2 ISO RGD:1352157 D RGD:7240710 20190315 OMIM 12049729 GJB4 gap junction protein beta 4 gene DOID:0080248 erythrokeratodermia variabilis et progressiva 2 ISO RGD:1352157 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 2 PMID:11017804|PMID:11933201|PMID:12648223|PMID:148984|PMID:25741868|PMID:28492532|PMID:6437964 12049729 GJB4 gap junction protein beta 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1352157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12049729 GJB4 gap junction protein beta 4 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1352157 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:17259707|PMID:25333454|PMID:25741868|PMID:28492532 12049729 GJB4 gap junction protein beta 4 gene DOID:0110564 autosomal dominant nonsyndromic deafness 3A ISO RGD:1352157 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3a PMID:17259707|PMID:25333454|PMID:25741868|PMID:28492532 12049729 GJB4 gap junction protein beta 4 gene DOID:0111195 erythrokeratodermia variabilis et progressiva 1 ISO RGD:1352157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1 PMID:25741868 12049729 GJB4 gap junction protein beta 4 gene DOID:4603 epidermolytic hyperkeratosis ISO RGD:1352157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16297190 12049729 GJB4 gap junction protein beta 4 gene DOID:630 genetic disease ISO RGD:1352157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12049735 LOC100991444 chromatin remodeling regulator CECR2 gene DOID:0060668 anencephaly ISO RGD:1557284 D RGD:9068941 20220825 MouseDO OMIM:206500 12049735 LOC100991444 chromatin remodeling regulator CECR2 gene DOID:0080074 neural tube defect ISO RGD:1350048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15640247 12049735 LOC100991444 chromatin remodeling regulator CECR2 gene DOID:0111996 immunodeficiency 51 ISO RGD:1350048 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12049735 LOC100991444 chromatin remodeling regulator CECR2 gene DOID:12849 autistic disorder ISO RGD:1350048 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 12049735 LOC100991444 chromatin remodeling regulator CECR2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12049735 LOC100991444 chromatin remodeling regulator CECR2 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1350048 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12049770 YWHAH tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta gene DOID:0050700 cardiomyopathy ISO RGD:737555 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18342293 12049770 YWHAH tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:737555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 12049770 YWHAH tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta gene DOID:630 genetic disease ISO RGD:737555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049770 YWHAH tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737555 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18342293 12049777 DYNLT2B dynein light chain Tctex-type 2B gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1604497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12049777 DYNLT2B dynein light chain Tctex-type 2B gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1604497 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 12049777 DYNLT2B dynein light chain Tctex-type 2B gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1604497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 12049777 DYNLT2B dynein light chain Tctex-type 2B gene DOID:12849 autistic disorder ISO RGD:1604497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12049777 DYNLT2B dynein light chain Tctex-type 2B gene DOID:5419 schizophrenia ISO RGD:1604497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12049777 DYNLT2B dynein light chain Tctex-type 2B gene DOID:9001805 Short-Rib Thoracic Dysplasia 17 with or without Polydactyly ISO RGD:1604497 D RGD:7240710 20190315 OMIM 12049777 DYNLT2B dynein light chain Tctex-type 2B gene DOID:9001805 Short-Rib Thoracic Dysplasia 17 with or without Polydactyly ISO RGD:1604497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 17 with or without polydactyly PMID:25741868|PMID:26044572|PMID:28492532 12049787 SPRYD3 SPRY domain containing 3 gene DOID:630 genetic disease ISO RGD:1602855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049802 BMERB1 bMERB domain containing 1 gene DOID:0080600 COVID-19 ISO RGD:1345550 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12049802 BMERB1 bMERB domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1345550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12049802 BMERB1 bMERB domain containing 1 gene DOID:1826 epilepsy ISO RGD:1345550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12049802 BMERB1 bMERB domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1345550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12049802 BMERB1 bMERB domain containing 1 gene DOID:8445 intestinal volvulus ISO RGD:1345550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12049802 BMERB1 bMERB domain containing 1 gene DOID:9000664 Familial Thoracic Aortic Aneurysm 4 ISO RGD:1345550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:22318994|PMID:27884122|PMID:28492532|PMID:29179725 12049802 BMERB1 bMERB domain containing 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1345550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12049818 GBP3 guanylate binding protein 3 gene DOID:630 genetic disease ISO RGD:1349801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049833 SNX13 sorting nexin 13 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12049833 SNX13 sorting nexin 13 gene DOID:630 genetic disease ISO RGD:1320299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049911 GPR6 G protein-coupled receptor 6 gene DOID:630 genetic disease ISO RGD:737528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049921 TPD52L1 TPD52 like 1 gene DOID:630 genetic disease ISO RGD:1320807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049921 TPD52L1 TPD52 like 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320807 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12049954 CYP4V2 cytochrome P450 family 4 subfamily V member 2 gene DOID:0050664 Bietti crystalline corneoretinal dystrophy ISO RGD:1312886 D RGD:7240710 20180130 OMIM 12049954 CYP4V2 cytochrome P450 family 4 subfamily V member 2 gene DOID:0050664 Bietti crystalline corneoretinal dystrophy ISO RGD:1312886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy PMID:15042513|PMID:15937078|PMID:16088246|PMID:16179904|PMID:16199547|PMID:17962476|PMID:18398705|PMID:21385027|PMID:21565171|PMID:22087103|PMID:22497028|PMID:22693542|PMID:22772592|PMID:23221965|PMID:23538635|PMID:23661369|PMID:24033266|PMID:24480711|PMID:24739949|PMID:25118264|PMID:25356976|PMID:25593508|PMID:25611614|PMID:25741868|PMID:26971461|PMID:27658286|PMID:28051075|PMID:28492532|PMID:28512305|PMID:28698241|PMID:28763560|PMID:28848678|PMID:29691984|PMID:29785639|PMID:30429639|PMID:31512983|PMID:31960602|PMID:33090715|PMID:33546218 12049954 CYP4V2 cytochrome P450 family 4 subfamily V member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1312886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25255310 12049954 CYP4V2 cytochrome P450 family 4 subfamily V member 2 gene DOID:10584 retinitis pigmentosa ISO RGD:1312886 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:24480711|PMID:28041643|PMID:28492532 12049954 CYP4V2 cytochrome P450 family 4 subfamily V member 2 gene DOID:10584 retinitis pigmentosa ISO RGD:1312886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:24480711|PMID:28041643|PMID:28051075|PMID:28492532|PMID:33090715 12049954 CYP4V2 cytochrome P450 family 4 subfamily V member 2 gene DOID:12849 autistic disorder ISO RGD:1312886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12049954 CYP4V2 cytochrome P450 family 4 subfamily V member 2 gene DOID:2229 factor XI deficiency ISO RGD:1312886 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:32581362|PMID:34355501 12049954 CYP4V2 cytochrome P450 family 4 subfamily V member 2 gene DOID:2566 corneal dystrophy ISO RGD:1312886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal Dystrophy, Recessive | ClinVar Annotator: match by term: Corneal dystrophy PMID:15042513|PMID:15937078|PMID:23221965|PMID:24480711|PMID:25741868|PMID:28492532 12049954 CYP4V2 cytochrome P450 family 4 subfamily V member 2 gene DOID:630 genetic disease ISO RGD:1312886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12049954 CYP4V2 cytochrome P450 family 4 subfamily V member 2 gene DOID:8501 fundus dystrophy ISO RGD:1312886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15042513|PMID:15937078|PMID:22772592|PMID:23221965|PMID:24033266|PMID:25118264|PMID:25356976|PMID:25593508|PMID:25611614|PMID:25741868|PMID:26971461|PMID:28051075|PMID:28492532|PMID:28848678 12049954 CYP4V2 cytochrome P450 family 4 subfamily V member 2 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1312886 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 12049995 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:734345 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12049995 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:0111698 proprotein convertase 1/3 deficiency ISO RGD:734345 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Obesity due to prohormone convertase I deficiency | ClinVar Annotator: match by term: Proprotein convertase 1/3 deficiency PMID:14617756|PMID:17595246|PMID:22210313|PMID:23383060|PMID:23562752|PMID:24041679|PMID:24135795|PMID:24932808|PMID:25272002|PMID:25741868|PMID:26786350|PMID:27187081|PMID:28377240|PMID:28492532|PMID:30383237|PMID:9207799 12049995 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:0111698 proprotein convertase 1/3 deficiency susceptibility ISO RGD:734345 D RGD:7240710 20230517 OMIM 12049995 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:10603 glucose intolerance ISO RGD:734346 D RGD:9068941 20200609 RGD associated with Hyperinsulinemia, Aniridia; mRNA, protein:decreased expression:pancreatic islet (mouse) PMID:19034419|REF_RGD_ID:2308929 12049995 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:11832 visual epilepsy ISO RGD:3272 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus granule cell layer (rat) PMID:9015327|REF_RGD_ID:2308918 12049995 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:1459 hypothyroidism ISO RGD:3272 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus, hippocampus, cortex (rat) PMID:15291740|REF_RGD_ID:2308889 12049995 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:1459 hypothyroidism ISO RGD:3272 D RGD:9068941 20200609 RGD protein:increased expression:paraventricular nucleus, lateral hypothalamic nucleus (rat) PMID:16926379|REF_RGD_ID:1600414 12049995 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:1799 islet cell tumor ISO RGD:3272 D RGD:9068941 20200609 RGD protein:increased expression:insulinoma (rat) PMID:7925129|REF_RGD_ID:2308920 12049995 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:28 endocrine system disease ISO RGD:734346 D RGD:9068941 20220825 MouseDO 12049995 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:4195 hyperglycemia ISO RGD:3272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein, mRNA:altered expression:pancreatic islet (rat) PMID:7883951|REF_RGD_ID:2308919 12049995 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:4195 hyperglycemia ISO RGD:3272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:hepatocyte (rat) PMID:17131142|REF_RGD_ID:2308899 12049995 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:630 genetic disease ISO RGD:734345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12049995 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:7998 hyperthyroidism ISO RGD:3272 D RGD:9068941 20200609 RGD mRNA:decreased expression:hypothalamus, hippocampus, cortex (rat) PMID:15291740|REF_RGD_ID:2308889 12049995 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:7998 hyperthyroidism ISO RGD:3272 D RGD:9068941 20200609 RGD protein:decreased expression:paraventricular nucleus, median eminence (rat) PMID:16497799|REF_RGD_ID:1601276 12049995 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12049995 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9005372 Inflammation ISO RGD:3272 D RGD:9068941 20200609 RGD protein:increased expression:paw, leukocyte (rat) PMID:14630714|REF_RGD_ID:2308900 12049995 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3272 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spleen, spleen white pulp (rat) PMID:11730986|REF_RGD_ID:2308905 12049995 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734346 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spleen (mouse) PMID:11730986|REF_RGD_ID:2308905 12049995 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734346 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic alpha cell (mouse) PMID:17698597|REF_RGD_ID:2308931 12049995 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9005930 Endotoxemia ISO RGD:3272 D RGD:9068941 20200609 RGD PMID:16337011|REF_RGD_ID:6483567 12049995 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12049995 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734345 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12049995 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9007633 Body Weight ISO RGD:734345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344219 12049995 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9007661 Dwarfism ISO RGD:734346 D RGD:9068941 20200609 RGD PMID:12145326|REF_RGD_ID:737721 12049995 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9007993 Dehydration ISO RGD:3272 D RGD:9068941 20200609 RGD associated with Protein-Energy Malnutrition; protein:increased expression:pituitary (rat) PMID:12411741|REF_RGD_ID:2308904 12049995 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3272 D RGD:9068941 20200609 RGD PMID:17630003|REF_RGD_ID:2308898 12049995 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3272 D RGD:9068941 20200609 RGD protein:altered expression:pancreatic islet (rat) PMID:12475375|REF_RGD_ID:2298715 12049995 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:734346 D RGD:9068941 20200609 RGD protein:decreased expression:pancreatic islet (mouse) PMID:18448419|REF_RGD_ID:2308932 12049995 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:734346 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic alpha cell (mouse) PMID:18941442|REF_RGD_ID:2308930 12049995 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:734345 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.R53Q, p.Q638E (human) PMID:8666140|REF_RGD_ID:2308935 12049995 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:734346 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic islet (mouse) PMID:16938896|REF_RGD_ID:2308934 12049995 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9970 obesity ISO RGD:734345 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Body mass index quantitative trait locus 12 | ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity PMID:18604207|PMID:22210313|PMID:23383060|PMID:25741868|PMID:28492532 12050014 RHO rhodopsin gene DOID:0050534 congenital stationary night blindness ISO RGD:731395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant PMID:28492532 12050014 RHO rhodopsin gene DOID:0050572 cone-rod dystrophy ISO RGD:731395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:11139241|PMID:12871954|PMID:17488458|PMID:19913029|PMID:21094163|PMID:21219898|PMID:25741868|PMID:28492532|PMID:29847639|PMID:30240733|PMID:30718709|PMID:7981701|PMID:8088850|PMID:9380676 12050014 RHO rhodopsin gene DOID:0050578 occult macular dystrophy ISO RGD:731395 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Occult macular dystrophy PMID:1882937|PMID:20591486|PMID:2215617|PMID:25265376|PMID:25741868|PMID:28492532|PMID:30977563|PMID:8486634 12050014 RHO rhodopsin gene DOID:0050817 Stargardt disease ISO RGD:731395 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: STGD PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12050014 RHO rhodopsin gene DOID:0080314 cone-rod dystrophy 14 ISO RGD:731395 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cone dystrophy 3 PMID:17936999|PMID:23484092|PMID:25741868|PMID:28492532|PMID:30977563 12050014 RHO rhodopsin gene DOID:0080803 cranioectodermal dysplasia 1 ISO RGD:731395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 PMID:28492532 12050014 RHO rhodopsin gene DOID:0110372 retinitis pigmentosa 4 ISO RGD:731395 D RGD:7240710 20180130 OMIM 12050014 RHO rhodopsin gene DOID:0110372 retinitis pigmentosa 4 ISO RGD:731395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 4 | ClinVar Annotator: match by term: Retinitis pigmentosa 4, autosomal recessive PMID:10874327|PMID:10967073|PMID:10980774|PMID:11094174|PMID:11139241|PMID:11141431|PMID:11879142|PMID:11910130|PMID:12091393|PMID:12660238|PMID:12871954|PMID:12966518|PMID:1301135|PMID:1302614|PMID:1303237|PMID:1356370|PMID:1418997|PMID:14769795|PMID:1484692|PMID:15126168|PMID:15145060|PMID:15232620|PMID:15509574|PMID:1580841|PMID:16170112|PMID:16737970|PMID:16767206|PMID:17014888|PMID:17488458|PMID:17576681|PMID:1765377|PMID:1783387|PMID:1808803|PMID:18175313|PMID:1833777|PMID:1840561|PMID:1862076|PMID:1882937|PMID:1897520|PMID:19085385|PMID:1924344|PMID:1929926|PMID:1985460|PMID:1987955|PMID:1987956|PMID:19913029|PMID:19933196|PMID:19958124|PMID:19960070|PMID:20164459|PMID:20525296|PMID:20532191|PMID:20555336|PMID:20805032|PMID:20832389|PMID:21077204|PMID:21094163|PMID:21174529|PMID:21217109|PMID:21219898|PMID:21352497|PMID:21357407|PMID:2137202|PMID:21677794|PMID:21922596|PMID:22110080|PMID:2215617|PMID:22252712|PMID:22321012|PMID:22323724|PMID:22334370|PMID:2239971|PMID:22791210|PMID:22956602|PMID:22968130|PMID:23221340|PMID:23288993|PMID:2333895|PMID:23484092|PMID:23591405|PMID:23625926|PMID:24265693|PMID:24520188|PMID:24853414|PMID:24935155|PMID:24938718|PMID:25096327|PMID:25097241|PMID:25101269|PMID:25221422|PMID:25356976|PMID:25359768|PMID:25366773|PMID:25408095|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25999674|PMID:2613244|PMID:26202387|PMID:26887858|PMID:26962691|PMID:27624628|PMID:27694816|PMID:28041643|PMID:28076437|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28981474|PMID:29068140|PMID:29099798|PMID:29453956|PMID:29463953|PMID:29847639|PMID:29890221|PMID:30029497|PMID:30240733|PMID:30538586|PMID:30718709|PMID:30972525|PMID:30977563|PMID:31087526|PMID:31100078|PMID:31213501|PMID:31319082|PMID:31456290|PMID:31877679|PMID:31908405|PMID:32013026|PMID:32037395|PMID:32531858|PMID:33247286|PMID:33576794|PMID:7523628|PMID:7724183|PMID:7981701|PMID:7987326|PMID:7987331|PMID:7987385|PMID:8045708|PMID:8081400|PMID:8088850|PMID:8240107|PMID:8253795|PMID:8317502|PMID:8328469|PMID:8353500|PMID:8401533|PMID:8406457|PMID:8554077|PMID:8841304|PMID:8905849|PMID:8943080|PMID:9197578|PMID:9380676|PMID:9452035|PMID:9483582|PMID:9536098|PMID:9724753|PMID:9810568 12050014 RHO rhodopsin gene DOID:0110862 congenital stationary night blindness autosomal dominant 1 ISO RGD:731395 D RGD:7240710 20180130 OMIM 12050014 RHO rhodopsin gene DOID:0110862 congenital stationary night blindness autosomal dominant 1 ISO RGD:731395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 1 PMID:10521250|PMID:10967073|PMID:11139241|PMID:11879142|PMID:12091393|PMID:12860986|PMID:12871954|PMID:1418997|PMID:14769795|PMID:14971589|PMID:15126168|PMID:15509574|PMID:16123440|PMID:16767206|PMID:17488458|PMID:18175313|PMID:18987202|PMID:1987955|PMID:1987956|PMID:19913029|PMID:19933196|PMID:20591486|PMID:20805032|PMID:21094163|PMID:21217109|PMID:21219898|PMID:2137202|PMID:22110080|PMID:22164218|PMID:22321012|PMID:22323724|PMID:2239971|PMID:22995991|PMID:24760071|PMID:24853414|PMID:2509724|PMID:25097241|PMID:25741868|PMID:25999674|PMID:26202387|PMID:26962691|PMID:27458239|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29847639|PMID:30240733|PMID:30718709|PMID:30977563|PMID:31054281|PMID:31319082|PMID:33347869|PMID:33669941|PMID:7846071|PMID:7981701|PMID:8081400|PMID:8088850|PMID:8107847|PMID:8317502|PMID:8358437|PMID:9050844|PMID:9380676|PMID:9618546|PMID:9810568|PMID:9888392 12050014 RHO rhodopsin gene DOID:0111947 immunodeficiency 21 ISO RGD:731395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 12050014 RHO rhodopsin gene DOID:10584 retinitis pigmentosa ISO RGD:731395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10521250|PMID:10967073|PMID:11094174|PMID:11139241|PMID:11141431|PMID:12660238|PMID:12860986|PMID:12871954|PMID:12966518|PMID:1301135|PMID:1303237|PMID:1484692|PMID:14971589|PMID:1580841|PMID:16123440|PMID:16767206|PMID:17014888|PMID:17488458|PMID:17576681|PMID:1765377|PMID:1783387|PMID:18175313|PMID:1833777|PMID:1840561|PMID:1862076|PMID:1882937|PMID:1897520|PMID:1924344|PMID:19913029|PMID:20164459|PMID:20525296|PMID:20555336|PMID:20591486|PMID:21077204|PMID:21094163|PMID:21174529|PMID:21217109|PMID:21219898|PMID:21352497|PMID:21357407|PMID:21922596|PMID:2215617|PMID:22164218|PMID:22995991|PMID:23591405|PMID:24265693|PMID:24520188|PMID:24760071|PMID:24935155|PMID:24938718|PMID:2509724|PMID:25097241|PMID:25101269|PMID:25221422|PMID:25408095|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26962691|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28524165|PMID:28559085|PMID:28981474|PMID:29068140|PMID:29099798|PMID:29847639|PMID:29890221|PMID:30240733|PMID:30718709|PMID:30977563|PMID:31100078|PMID:31908405|PMID:33576794|PMID:7724183|PMID:7981701|PMID:7987326|PMID:7987331|PMID:8045708|PMID:8088850|PMID:8240107|PMID:8253795|PMID:8317502|PMID:8328469|PMID:8353500|PMID:8401533|PMID:8406457|PMID:8554077|PMID:8841304|PMID:8905849|PMID:9050844|PMID:9197578|PMID:9380676|PMID:9483582|PMID:9536098|PMID:9618546 12050014 RHO rhodopsin gene DOID:10584 retinitis pigmentosa ISO RGD:731395 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10521250|PMID:10967073|PMID:11094174|PMID:11139241|PMID:12660238|PMID:12860986|PMID:12871954|PMID:12966518|PMID:1301135|PMID:1303237|PMID:1484692|PMID:14971589|PMID:1580841|PMID:16123440|PMID:16767206|PMID:17488458|PMID:17576681|PMID:1783387|PMID:18175313|PMID:1833777|PMID:1840561|PMID:1862076|PMID:1882937|PMID:1897520|PMID:1924344|PMID:19913029|PMID:20164459|PMID:20525296|PMID:20555336|PMID:20591486|PMID:21077204|PMID:21094163|PMID:21174529|PMID:21217109|PMID:21219898|PMID:21352497|PMID:21357407|PMID:21922596|PMID:2215617|PMID:22164218|PMID:22995991|PMID:24265693|PMID:24520188|PMID:24760071|PMID:24935155|PMID:2509724|PMID:25097241|PMID:25101269|PMID:25221422|PMID:25525159|PMID:25741868|PMID:25999674|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28981474|PMID:29068140|PMID:29099798|PMID:29847639|PMID:30240733|PMID:30718709|PMID:30977563|PMID:31100078|PMID:33576794|PMID:7981701|PMID:7987326|PMID:8088850|PMID:8240107|PMID:8253795|PMID:8317502|PMID:8328469|PMID:8353500|PMID:8401533|PMID:8554077|PMID:8841304|PMID:8905849|PMID:9050844|PMID:9197578|PMID:9380676|PMID:9483582|PMID:9536098|PMID:9618546 12050014 RHO rhodopsin gene DOID:10584 retinitis pigmentosa ISO RGD:731395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10521250|PMID:10967073|PMID:11094174|PMID:11139241|PMID:11141431|PMID:12660238|PMID:12860986|PMID:12871954|PMID:12966518|PMID:1301135|PMID:1303237|PMID:1484692|PMID:14971589|PMID:1580841|PMID:16123440|PMID:16737970|PMID:16767206|PMID:17014888|PMID:17488458|PMID:17576681|PMID:1765377|PMID:1783387|PMID:18175313|PMID:1833777|PMID:1840561|PMID:1862076|PMID:1882937|PMID:1897520|PMID:19085385|PMID:1924344|PMID:19913029|PMID:19960070|PMID:20164459|PMID:20525296|PMID:20555336|PMID:20591486|PMID:21077204|PMID:21094163|PMID:21174529|PMID:21217109|PMID:21219898|PMID:21352497|PMID:21357407|PMID:21922596|PMID:2215617|PMID:22164218|PMID:22252712|PMID:22791210|PMID:22968130|PMID:22995991|PMID:23221340|PMID:23591405|PMID:23625926|PMID:24106275|PMID:24265693|PMID:24520188|PMID:24760071|PMID:24935155|PMID:24938718|PMID:2509724|PMID:25097241|PMID:25101269|PMID:25221422|PMID:25408095|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26887858|PMID:26962691|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28524165|PMID:28559085|PMID:28981474|PMID:29068140|PMID:29099798|PMID:29847639|PMID:29890221|PMID:30240733|PMID:30718709|PMID:30977563|PMID:31100078|PMID:31319082|PMID:31456290|PMID:31908405|PMID:32037395|PMID:32581362|PMID:33576794|PMID:7724183|PMID:7981701|PMID:7987326|PMID:7987331|PMID:7987385|PMID:8045708|PMID:8088850|PMID:8240107|PMID:8253795|PMID:8317502|PMID:8328469|PMID:8353500|PMID:8401533|PMID:8406457|PMID:8554077|PMID:8841304|PMID:8905849|PMID:9050844|PMID:9197578|PMID:9380676|PMID:9483582|PMID:9536098|PMID:9618546 12050014 RHO rhodopsin gene DOID:10584 retinitis pigmentosa treatment ISO RGD:11239 D RGD:9068941 20200609 RGD PMID:17083931|PMID:21126223|REF_RGD_ID:8547992|REF_RGD_ID:8548552 12050014 RHO rhodopsin gene DOID:10584 retinitis pigmentosa treatment ISO RGD:731395 D RGD:9068941 20200609 RGD PMID:21268285|REF_RGD_ID:8548515 12050014 RHO rhodopsin gene DOID:11105 fundus albipunctatus ISO RGD:731395 D RGD:7240710 20180130 OMIM 12050014 RHO rhodopsin gene DOID:11105 fundus albipunctatus ISO RGD:731395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens PMID:10967073|PMID:12660238|PMID:12966518|PMID:1484692|PMID:16767206|PMID:18175313|PMID:1833777|PMID:1862076|PMID:1882937|PMID:18987202|PMID:1924344|PMID:20525296|PMID:21077204|PMID:21217109|PMID:21352497|PMID:21677794|PMID:21922596|PMID:25101269|PMID:25741868|PMID:25999674|PMID:27458239|PMID:28492532|PMID:28559085|PMID:30718709|PMID:30977563|PMID:31319082|PMID:33669941|PMID:7846071|PMID:7987331|PMID:8107847|PMID:8554077|PMID:8841304|PMID:9197578|PMID:9380676 12050014 RHO rhodopsin gene DOID:630 genetic disease ISO RGD:731395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12050014 RHO rhodopsin gene DOID:7765 Coats disease ISO RGD:731395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Exudative retinopathy PMID:10967073|PMID:25741868|PMID:28492532|PMID:30977563|PMID:7987331|PMID:9380676 12050014 RHO rhodopsin gene DOID:8466 retinal degeneration ISO RGD:731395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:25741868|PMID:28492532|PMID:30972525 12050014 RHO rhodopsin gene DOID:8499 night blindness ISO RGD:731395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Night blindness PMID:20555336|PMID:2215617|PMID:25221422|PMID:25741868|PMID:28041643|PMID:28492532 12050014 RHO rhodopsin gene DOID:8501 fundus dystrophy ISO RGD:731395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10189219|PMID:10967073|PMID:11094174|PMID:11139241|PMID:11879142|PMID:12091393|PMID:12660238|PMID:1301135|PMID:1302614|PMID:1303237|PMID:1418997|PMID:14769795|PMID:1484692|PMID:15126168|PMID:15509574|PMID:1580841|PMID:16170112|PMID:16799052|PMID:17014888|PMID:17488458|PMID:1765377|PMID:1808803|PMID:18175313|PMID:1833777|PMID:1862076|PMID:1882937|PMID:1897520|PMID:1924344|PMID:1929926|PMID:1985460|PMID:1987955|PMID:1987956|PMID:19913029|PMID:19933196|PMID:20164459|PMID:20555336|PMID:20805032|PMID:21094163|PMID:21174529|PMID:21352497|PMID:2137202|PMID:22110080|PMID:2215617|PMID:22321012|PMID:22323724|PMID:22334370|PMID:2239971|PMID:2333895|PMID:23940033|PMID:24106275|PMID:24265693|PMID:24520188|PMID:24853414|PMID:24935155|PMID:25101269|PMID:25221422|PMID:25366773|PMID:25741868|PMID:2613244|PMID:26202387|PMID:26962691|PMID:28041643|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29099798|PMID:29453956|PMID:29847639|PMID:30240733|PMID:30718709|PMID:30977563|PMID:31054281|PMID:31319082|PMID:31877679|PMID:31908405|PMID:31960602|PMID:32037395|PMID:33347869|PMID:33576794|PMID:7724183|PMID:7987326|PMID:8081400|PMID:8088850|PMID:8253795|PMID:8328469|PMID:8554077|PMID:8841304|PMID:8905849|PMID:9010870|PMID:9197578|PMID:9452035|PMID:9724753|PMID:9810568 12050014 RHO rhodopsin gene DOID:9004832 Congenital Hypomyelinating Neuropathy 2 ISO RGD:731395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuropathy, congenital hypomyelinating, 2 PMID:17825553 12050014 RHO rhodopsin gene DOID:9006630 Stargardt Disease 1 ISO RGD:731395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stargardt disease 1 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12050014 RHO rhodopsin gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:731395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 12050014 RHO rhodopsin gene DOID:9270 alkaptonuria ISO RGD:731395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12050024 LAYN layilin gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1604525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 12050024 LAYN layilin gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1604525 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 12050024 LAYN layilin gene DOID:1059 intellectual disability ISO RGD:1604525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12050024 LAYN layilin gene DOID:12704 ataxia telangiectasia ISO RGD:1604525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12050024 LAYN layilin gene DOID:630 genetic disease ISO RGD:1604525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12050024 LAYN layilin gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12050024 LAYN layilin gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1604525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 13542709 ZNF714 zinc finger protein 714 gene DOID:630 genetic disease ISO RGD:1606958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13543295 MPDU1-AS1 MPDU1 antisense RNA 1 gene DOID:0080558 congenital disorder of glycosylation If ISO RGD:16555559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1F PMID:11733564|PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532 13543295 MPDU1-AS1 MPDU1 antisense RNA 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:16555559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 13543295 MPDU1-AS1 MPDU1 antisense RNA 1 gene DOID:630 genetic disease ISO RGD:16555559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25954003|PMID:27618451|PMID:28490743 13543542 PNMA6E PNMA family member 6E gene DOID:0050454 periventricular nodular heterotopia ISO RGD:12790877 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 13543542 PNMA6E PNMA family member 6E gene DOID:0050476 Barth syndrome ISO RGD:12790877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 13543542 PNMA6E PNMA family member 6E gene DOID:0050800 creatine transporter deficiency ISO RGD:12790877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 13543542 PNMA6E PNMA family member 6E gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:12790877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 13543542 PNMA6E PNMA family member 6E gene DOID:10588 adrenoleukodystrophy ISO RGD:12790877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 13543542 PNMA6E PNMA family member 6E gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:12790877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 13543542 PNMA6E PNMA family member 6E gene DOID:12849 autistic disorder ISO RGD:12790877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 13543542 PNMA6E PNMA family member 6E gene DOID:13628 favism ISO RGD:12790877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 13543542 PNMA6E PNMA family member 6E gene DOID:2729 dyskeratosis congenita ISO RGD:12790877 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 13543542 PNMA6E PNMA family member 6E gene DOID:607 paraplegia ISO RGD:12790877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 13545426 SIRPB1 signal regulatory protein beta 1 gene DOID:630 genetic disease ISO RGD:1347883 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13547928 RPP14 ribonuclease P/MRP subunit p14 gene DOID:630 genetic disease ISO RGD:1313464 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13547928 RPP14 ribonuclease P/MRP subunit p14 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1313464 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 13548227 LBHD2 LBH domain containing 2 gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:13440437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 13548359 MSANTD3 Myb/SANT DNA binding domain containing 3 gene DOID:1059 intellectual disability ISO RGD:1603187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 13548359 MSANTD3 Myb/SANT DNA binding domain containing 3 gene DOID:630 genetic disease ISO RGD:1603187 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13548904 IFNE interferon epsilon gene DOID:5419 schizophrenia ISO RGD:1606106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 13548904 IFNE interferon epsilon gene DOID:630 genetic disease ISO RGD:1606106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13551149 NBDY negative regulator of P-body association gene DOID:12849 autistic disorder ISO RGD:8662134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 13551575 NCBP2L nuclear cap binding protein subunit 2 like gene DOID:12849 autistic disorder ISO RGD:1353799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 13554705 FAM185A family with sequence similarity 185 member A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 13554705 FAM185A family with sequence similarity 185 member A gene DOID:630 genetic disease ISO RGD:1601709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13555181 LOC112438684 mitotic-spindle organizing protein 2B gene DOID:0050453 lissencephaly ISO RGD:1605033 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:25558065 13555181 LOC112438684 mitotic-spindle organizing protein 2B gene DOID:630 genetic disease ISO RGD:1605033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13555182 GPATCH1 G-patch domain containing 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1318991 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 13555182 GPATCH1 G-patch domain containing 1 gene DOID:630 genetic disease ISO RGD:1318991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13555182 GPATCH1 G-patch domain containing 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1318991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:28492532 13555573 MINDY4B MINDY family member 4B gene DOID:0050579 glycogen storage disease XV ISO RGD:2306135 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 13555618 LOC112441159 uncharacterized LOC112441159 gene DOID:630 genetic disease ISO RGD:6766625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13557208 LOC112441186 olfactory receptor 8B3 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1354454 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 13557208 LOC112441186 olfactory receptor 8B3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1354454 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 13557208 LOC112441186 olfactory receptor 8B3 gene DOID:5419 schizophrenia ISO RGD:1354454 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 13557208 LOC112441186 olfactory receptor 8B3 gene DOID:630 genetic disease ISO RGD:1354454 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13557208 LOC112441186 olfactory receptor 8B3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1354454 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 13557208 LOC112441186 olfactory receptor 8B3 gene DOID:9007661 Dwarfism ISO RGD:1354454 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 13558151 ANKRD36C ankyrin repeat domain 36C gene DOID:9006862 PERITONEAL GLIOMATOSIS ISO RGD:1602616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peritoneal Gliomatosis 13559154 LAIR2 leukocyte associated immunoglobulin like receptor 2 gene DOID:630 genetic disease ISO RGD:1344794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13559967 SPINT4 serine peptidase inhibitor, Kunitz type 4 gene DOID:2234 focal epilepsy ISO RGD:1603467 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 13559967 SPINT4 serine peptidase inhibitor, Kunitz type 4 gene DOID:630 genetic disease ISO RGD:1603467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13559967 SPINT4 serine peptidase inhibitor, Kunitz type 4 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1603467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 13560224 PNMA6F PNMA family member 6F gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:12880256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 13560224 PNMA6F PNMA family member 6F gene DOID:12849 autistic disorder ISO RGD:12880256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 13561480 SLURP2 secreted LY6/PLAUR domain containing 2 gene DOID:3390 palmoplantar keratosis ISO RGD:1317833 D RGD:9068941 20220825 MouseDO 13562631 ASDURF ASNSD1 upstream open reading frame gene DOID:630 genetic disease ISO RGD:13207374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13564372 LOC112438147 protein FAM246C gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:26923936 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 13564372 LOC112438147 protein FAM246C gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:26923936 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 13564372 LOC112438147 protein FAM246C gene DOID:11198 DiGeorge syndrome ISO RGD:26923936 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome 13564372 LOC112438147 protein FAM246C gene DOID:12583 velocardiofacial syndrome ISO RGD:26923936 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 13564372 LOC112438147 protein FAM246C gene DOID:12849 autistic disorder ISO RGD:26923936 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 13564372 LOC112438147 protein FAM246C gene DOID:5419 schizophrenia ISO RGD:26923936 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 13564372 LOC112438147 protein FAM246C gene DOID:9007661 Dwarfism ISO RGD:26923936 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 13565614 LOC112441001 translation initiation factor IF-2 gene DOID:630 genetic disease ISO RGD:38640341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13568308 LOC112437434 metallothionein-4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343695 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 13568308 LOC112437434 metallothionein-4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343695 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 13568308 LOC112437434 metallothionein-4 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1343695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 13568308 LOC112437434 metallothionein-4 gene DOID:557 kidney disease ISO RGD:1343695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19921116 13568308 LOC112437434 metallothionein-4 gene DOID:630 genetic disease ISO RGD:1343695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13568308 LOC112437434 metallothionein-4 gene DOID:9008914 Lead Poisoning ISO RGD:1343695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19921116 13569559 LOC112438076 keratin-associated protein 22-1 gene DOID:630 genetic disease ISO RGD:1352120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13569898 C1QC complement C1q C chain gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1315664 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 13569898 C1QC complement C1q C chain gene DOID:0060369 Parkinson's disease 6 ISO RGD:1315664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 13569898 C1QC complement C1q C chain gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1315664 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:35789393 13569898 C1QC complement C1q C chain gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1315664 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 13569898 C1QC complement C1q C chain gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1315664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 13569898 C1QC complement C1q C chain gene DOID:0080600 COVID-19 ISO RGD:1315664 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 13569898 C1QC complement C1q C chain gene DOID:1883 hepatitis C ISO RGD:1315664 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:35789393 13569898 C1QC complement C1q C chain gene DOID:630 genetic disease ISO RGD:1315664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 13569898 C1QC complement C1q C chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 13569898 C1QC complement C1q C chain gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1315664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 13569898 C1QC complement C1q C chain gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:1315664 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:35789393 13569898 C1QC complement C1q C chain gene DOID:9007516 C1q Deficiency ISO RGD:1315664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: C1Q deficiency PMID:20635792|PMID:21654842|PMID:24157463|PMID:25741868|PMID:28082982|PMID:28492532|PMID:30008451|PMID:31357913|PMID:7029321|PMID:7900940|PMID:8630118 13569898 C1QC complement C1q C chain gene DOID:9007652 C1q Deficiency 3 ISO RGD:1315664 D RGD:7240710 20230505 OMIM 13569898 C1QC complement C1q C chain gene DOID:9007652 C1q Deficiency 3 ISO RGD:1315664 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: C1q deficiency 3 PMID:24157463|PMID:28492532|PMID:7029321|PMID:8630118 13569898 C1QC complement C1q C chain gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1315664 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 13570171 LOC112438098 keratin-associated protein 19-8 gene DOID:630 genetic disease ISO RGD:2291778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13571339 FAM187A family with sequence similarity 187 member A gene DOID:0110621 primary ciliary dyskinesia 17 ISO RGD:6482918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 17 13571339 FAM187A family with sequence similarity 187 member A gene DOID:9562 primary ciliary dyskinesia ISO RGD:6482918 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 13572308 ZNF71 zinc finger protein 71 gene DOID:630 genetic disease ISO RGD:1343724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13575484 GJE1 gap junction protein epsilon 1 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:2302326 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 13575484 GJE1 gap junction protein epsilon 1 gene DOID:574 peripheral nervous system disease ISO RGD:2302326 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21228734 13575839 CCL27 C-C motif chemokine ligand 27 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1312228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 13575839 CCL27 C-C motif chemokine ligand 27 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1312228 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 13575839 CCL27 C-C motif chemokine ligand 27 gene DOID:0080600 COVID-19 severity ISO RGD:1312228 D RGD:9068941 20200618 RGD protein:increased expression:plasma (human) PMID:32360286|REF_RGD_ID:30309209 13575839 CCL27 C-C motif chemokine ligand 27 gene DOID:0080942 anauxetic dysplasia ISO RGD:1312228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 13575839 CCL27 C-C motif chemokine ligand 27 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1312228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 13575839 CCL27 C-C motif chemokine ligand 27 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1312228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 13575839 CCL27 C-C motif chemokine ligand 27 gene DOID:1790 malignant mesothelioma ISO RGD:1312228 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 13575839 CCL27 C-C motif chemokine ligand 27 gene DOID:2773 contact dermatitis ISO RGD:1312228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 13575839 CCL27 C-C motif chemokine ligand 27 gene DOID:2841 asthma ISO RGD:1312228 D RGD:9068941 20200609 RGD PMID:19541356|REF_RGD_ID:5130899 13575839 CCL27 C-C motif chemokine ligand 27 gene DOID:3310 atopic dermatitis ISO RGD:1312228 D RGD:9068941 20200609 RGD PMID:12642842|REF_RGD_ID:1626250 13575839 CCL27 C-C motif chemokine ligand 27 gene DOID:630 genetic disease ISO RGD:1312228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13575839 CCL27 C-C motif chemokine ligand 27 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1312228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 13575839 CCL27 C-C motif chemokine ligand 27 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1312228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 13575839 CCL27 C-C motif chemokine ligand 27 gene DOID:9870 galactosemia ISO RGD:1312228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 13575858 GNG13 G protein subunit gamma 13 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1318585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 13575858 GNG13 G protein subunit gamma 13 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1318585 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 13575858 GNG13 G protein subunit gamma 13 gene DOID:1826 epilepsy ISO RGD:1318585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 13575858 GNG13 G protein subunit gamma 13 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1318585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 13575858 GNG13 G protein subunit gamma 13 gene DOID:630 genetic disease ISO RGD:1318585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13576380 LOC112438429 embryonic testis differentiation protein homolog C gene DOID:12849 autistic disorder ISO RGD:13461897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 13577631 GOLPH3 golgi phosphoprotein 3 gene DOID:630 genetic disease ISO RGD:1349293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13577631 GOLPH3 golgi phosphoprotein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 13577631 GOLPH3 golgi phosphoprotein 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1349293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 13579174 LOC112438088 keratin-associated protein 10-12 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1350396 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 13579174 LOC112438088 keratin-associated protein 10-12 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1350396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 13579174 LOC112438088 keratin-associated protein 10-12 gene DOID:0110266 cataract 9 multiple types ISO RGD:1350396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 13579174 LOC112438088 keratin-associated protein 10-12 gene DOID:0110540 autosomal recessive nonsyndromic deafness 98 ISO RGD:1350396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 98 PMID:25741868 13579174 LOC112438088 keratin-associated protein 10-12 gene DOID:12849 autistic disorder ISO RGD:1350396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 13579174 LOC112438088 keratin-associated protein 10-12 gene DOID:630 genetic disease ISO RGD:1350396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 13579174 LOC112438088 keratin-associated protein 10-12 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1350396 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 13579174 LOC112438088 keratin-associated protein 10-12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 13579174 LOC112438088 keratin-associated protein 10-12 gene DOID:9263 homocystinuria ISO RGD:1350396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 13579174 LOC112438088 keratin-associated protein 10-12 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1350396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 13582861 LOC112440134 histone H4 gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1347367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23349890 13583248 LOC112438078 keratin-associated protein 20-1 gene DOID:630 genetic disease ISO RGD:1344445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13585587 ZNF83 zinc finger protein 83 gene DOID:630 genetic disease ISO RGD:1342538 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13586287 TEX13D TEX13 family member D gene DOID:12849 autistic disorder ISO RGD:10449361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 13586287 TEX13D TEX13 family member D gene DOID:9003937 X Chromosome, Trisomy Xq25 ISO RGD:10449361 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Xq25 duplication syndrome 13587804 LOC112436706 olfactory receptor 10J3 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1347047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 13587804 LOC112436706 olfactory receptor 10J3 gene DOID:1540 parathyroid carcinoma ISO RGD:1347047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 13587804 LOC112436706 olfactory receptor 10J3 gene DOID:630 genetic disease ISO RGD:1347047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13587804 LOC112436706 olfactory receptor 10J3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 13588520 PVALEF parvalbumin like EF-hand containing gene DOID:630 genetic disease ISO RGD:2304510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13590084 LOC112438081 keratin-associated protein 15-1 gene DOID:630 genetic disease ISO RGD:1322358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13590594 ERVV-2 endogenous retrovirus group V member 2, envelope gene DOID:630 genetic disease ISO RGD:5132012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 15036828 PCDHA3 protocadherin alpha 3 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:732264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 15036828 PCDHA3 protocadherin alpha 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732264 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 15036828 PCDHA3 protocadherin alpha 3 gene DOID:10283 prostate cancer ISO RGD:732264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 15036828 PCDHA3 protocadherin alpha 3 gene DOID:10487 Hirschsprung's disease ISO RGD:732264 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 15036828 PCDHA3 protocadherin alpha 3 gene DOID:2228 thrombocytosis ISO RGD:732264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytosis PMID:25741868 15036828 PCDHA3 protocadherin alpha 3 gene DOID:630 genetic disease ISO RGD:732264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 15036828 PCDHA3 protocadherin alpha 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:732264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 15036828 PCDHA3 protocadherin alpha 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 15036828 PCDHA3 protocadherin alpha 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732264 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 15036830 PCDHAC1 protocadherin alpha subfamily C, 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1353050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 15036830 PCDHAC1 protocadherin alpha subfamily C, 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353050 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 15036830 PCDHAC1 protocadherin alpha subfamily C, 1 gene DOID:10487 Hirschsprung's disease ISO RGD:1353050 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 15036830 PCDHAC1 protocadherin alpha subfamily C, 1 gene DOID:630 genetic disease ISO RGD:1353050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 15036830 PCDHAC1 protocadherin alpha subfamily C, 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 15036830 PCDHAC1 protocadherin alpha subfamily C, 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353050 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 15036831 PCDHA4 protocadherin alpha 4 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:733347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 15036831 PCDHA4 protocadherin alpha 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733347 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 15036831 PCDHA4 protocadherin alpha 4 gene DOID:10283 prostate cancer ISO RGD:733347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 15036831 PCDHA4 protocadherin alpha 4 gene DOID:10487 Hirschsprung's disease ISO RGD:733347 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 15036831 PCDHA4 protocadherin alpha 4 gene DOID:2228 thrombocytosis ISO RGD:733347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytosis PMID:25741868 15036831 PCDHA4 protocadherin alpha 4 gene DOID:630 genetic disease ISO RGD:733347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 15036831 PCDHA4 protocadherin alpha 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 15036831 PCDHA4 protocadherin alpha 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733347 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 15036832 PCDHA10 protocadherin alpha 10 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1352620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 15036832 PCDHA10 protocadherin alpha 10 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1352620 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 15036832 PCDHA10 protocadherin alpha 10 gene DOID:10283 prostate cancer ISO RGD:1352620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 15036832 PCDHA10 protocadherin alpha 10 gene DOID:10487 Hirschsprung's disease ISO RGD:1352620 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 15036832 PCDHA10 protocadherin alpha 10 gene DOID:2228 thrombocytosis ISO RGD:1352620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytosis PMID:25741868 15036832 PCDHA10 protocadherin alpha 10 gene DOID:630 genetic disease ISO RGD:1352620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 15036832 PCDHA10 protocadherin alpha 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 15036832 PCDHA10 protocadherin alpha 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352620 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 15036833 PCDHA11 protocadherin alpha 11 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1349379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 15036833 PCDHA11 protocadherin alpha 11 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349379 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 15036833 PCDHA11 protocadherin alpha 11 gene DOID:10487 Hirschsprung's disease ISO RGD:1349379 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 15036833 PCDHA11 protocadherin alpha 11 gene DOID:630 genetic disease ISO RGD:1349379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 15036833 PCDHA11 protocadherin alpha 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 15036833 PCDHA11 protocadherin alpha 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 15036833 PCDHA11 protocadherin alpha 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349379 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 15036834 PCDHA13 protocadherin alpha 13 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1342552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 15036834 PCDHA13 protocadherin alpha 13 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1342552 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 15036834 PCDHA13 protocadherin alpha 13 gene DOID:10487 Hirschsprung's disease ISO RGD:1342552 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 15036834 PCDHA13 protocadherin alpha 13 gene DOID:630 genetic disease ISO RGD:1342552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 15036834 PCDHA13 protocadherin alpha 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 15036834 PCDHA13 protocadherin alpha 13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1342552 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 15036834 PCDHA13 protocadherin alpha 13 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1342552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28530678 15036835 PCDHA12 protocadherin alpha 12 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1345752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 15036835 PCDHA12 protocadherin alpha 12 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1345752 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 15036835 PCDHA12 protocadherin alpha 12 gene DOID:10487 Hirschsprung's disease ISO RGD:1345752 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 15036835 PCDHA12 protocadherin alpha 12 gene DOID:630 genetic disease ISO RGD:1345752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 15036835 PCDHA12 protocadherin alpha 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 15036835 PCDHA12 protocadherin alpha 12 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 15036835 PCDHA12 protocadherin alpha 12 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345752 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 32726081 FAHD2B fumarylacetoacetate hydrolase domain containing 2B gene DOID:1059 intellectual disability ISO RGD:1602649 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Intellectual disability 32726081 FAHD2B fumarylacetoacetate hydrolase domain containing 2B gene DOID:5419 schizophrenia ISO RGD:1602649 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 32726081 FAHD2B fumarylacetoacetate hydrolase domain containing 2B gene DOID:630 genetic disease ISO RGD:1602649 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726114 SOX3 SRY-box transcription factor 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 32726114 SOX3 SRY-box transcription factor 3 gene DOID:0111779 X-linked panhypopituitarism ISO RGD:1347884 D RGD:7240710 20200701 OMIM 32726114 SOX3 SRY-box transcription factor 3 gene DOID:0111779 X-linked panhypopituitarism ISO RGD:1347884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Panhypopituitarism, X-linked PMID:15800844|PMID:25741868|PMID:28492532 32726114 SOX3 SRY-box transcription factor 3 gene DOID:1059 intellectual disability ISO RGD:1347884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 32726114 SOX3 SRY-box transcription factor 3 gene DOID:10908 hydrocephalus ISO RGD:11333 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 32726114 SOX3 SRY-box transcription factor 3 gene DOID:12259 hemophilia B ISO RGD:1347884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary factor IX deficiency disease PMID:2198809|PMID:24375831|PMID:28492532|PMID:3029178|PMID:4045960|PMID:8304338 32726114 SOX3 SRY-box transcription factor 3 gene DOID:12849 autistic disorder ISO RGD:1347884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:23757202|PMID:25741868|PMID:28492532|PMID:30208311 32726114 SOX3 SRY-box transcription factor 3 gene DOID:5426 primary ovarian insufficiency ISO RGD:1347884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 32726114 SOX3 SRY-box transcription factor 3 gene DOID:630 genetic disease ISO RGD:1347884 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21289259|PMID:25741868|PMID:28492532 32726114 SOX3 SRY-box transcription factor 3 gene DOID:9000947 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, WITH PANHYPOPITUITARISM ISO RGD:1347884 D RGD:7240710 20200701 OMIM 32726114 SOX3 SRY-box transcription factor 3 gene DOID:9000947 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, WITH PANHYPOPITUITARISM ISO RGD:1347884 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked, with panhypopituitarism | ClinVar Annotator: match by term: X-linked intellectual disability with isolated growth hormone deficiency PMID:12428212|PMID:21289259|PMID:23757202|PMID:25741868|PMID:28492532|PMID:8826446 32726114 SOX3 SRY-box transcription factor 3 gene DOID:9001510 Funnel Chest ISO RGD:1347884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:23757202|PMID:25741868|PMID:28492532 32726114 SOX3 SRY-box transcription factor 3 gene DOID:9004048 X-Linked Mental Retardation with Isolated Growth Hormone Deficiency ISO RGD:1347884 D RGD:9068941 20200702 RGD DNA:duplication:cds:c.712_744dup (human) PMID:12428212|REF_RGD_ID:11535974 32726114 SOX3 SRY-box transcription factor 3 gene DOID:9406 hypopituitarism ISO RGD:11333 D RGD:9068941 20200702 RGD PMID:14981518|REF_RGD_ID:1300422 32726132 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:0081292 traumatic brain injury ISO RGD:69230 D RGD:9068941 20200702 RGD PMID:20713027|REF_RGD_ID:13830881 32726132 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:10652 Alzheimer's disease ISO RGD:735592 D RGD:9068941 20200702 RGD PMID:21223993|REF_RGD_ID:13830879 32726132 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:1350432 D RGD:9068941 20200702 RGD DNA:SNP: :rs1868402 (human) PMID:23727081|REF_RGD_ID:13830878 32726132 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:1350432 D RGD:9068941 20200702 RGD PMID:15012912|REF_RGD_ID:1580709 32726132 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:735592 D RGD:9068941 20220825 MouseDO 32726132 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:5419 schizophrenia ISO RGD:735592 D RGD:9068941 20220825 MouseDO OMIM:181500 32726132 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1350432 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:18344631 32726132 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1350432 D RGD:9068941 20200806 RGD PMID:16688406|REF_RGD_ID:1580706 32726132 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1350432 D RGD:9068941 20200806 RGD DNA:insertion/deletion:promoter: PMID:16209992|REF_RGD_ID:1580708 32726132 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:9007102 Myocardial Ischemia ISO RGD:1350432 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 32726132 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:9007102 Myocardial Ischemia ISO RGD:69230 D RGD:9068941 20200702 RGD PMID:16214533|REF_RGD_ID:1580707 32726141 FOXD4 forkhead box D4 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1346778 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 32726141 FOXD4 forkhead box D4 gene DOID:5419 schizophrenia ISO RGD:1346778 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 32726141 FOXD4 forkhead box D4 gene DOID:630 genetic disease ISO RGD:1346778 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726148 TMEM178A transmembrane protein 178A gene DOID:3883 Lynch syndrome ISO RGD:1602302 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 32726148 TMEM178A transmembrane protein 178A gene DOID:630 genetic disease ISO RGD:1602302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726148 TMEM178A transmembrane protein 178A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1332223 D RGD:9068941 20230420 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 32726148 TMEM178A transmembrane protein 178A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 32726158 TVP23B trans-golgi network vesicle protein 23 homolog B gene DOID:0050777 Joubert syndrome ISO RGD:1314909 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 32726158 TVP23B trans-golgi network vesicle protein 23 homolog B gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1314909 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 32726158 TVP23B trans-golgi network vesicle protein 23 homolog B gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1314909 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 32726158 TVP23B trans-golgi network vesicle protein 23 homolog B gene DOID:12849 autistic disorder ISO RGD:1314909 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32726158 TVP23B trans-golgi network vesicle protein 23 homolog B gene DOID:630 genetic disease ISO RGD:1314909 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726224 CYSTM1 cysteine rich transmembrane module containing 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1603605 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 32726224 CYSTM1 cysteine rich transmembrane module containing 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603605 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 32726224 CYSTM1 cysteine rich transmembrane module containing 1 gene DOID:630 genetic disease ISO RGD:1603605 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726224 CYSTM1 cysteine rich transmembrane module containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603605 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 32726224 CYSTM1 cysteine rich transmembrane module containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603605 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 32726224 CYSTM1 cysteine rich transmembrane module containing 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603605 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 32726232 SAMD5 sterile alpha motif domain containing 5 gene DOID:630 genetic disease ISO RGD:1353343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:0050741 alcohol dependence ISO RGD:2683 D RGD:9068941 20200702 RGD protein:increased activity:plasma,liver,intestine: PMID:6113606|REF_RGD_ID:14701046 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:0080546 non-alcoholic fatty liver ISO RGD:735681 D RGD:9068941 20200702 RGD protein:increased expression:serum: PMID:23730648|REF_RGD_ID:14747013 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:0111257 gamma-glutamyl transpeptidase deficiency ISO RGD:735681 D RGD:7240710 20200701 OMIM 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:0111257 gamma-glutamyl transpeptidase deficiency ISO RGD:735681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: gamma-Glutamyltransferase deficiency PMID:25741868 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:11714 gestational diabetes ISO RGD:735681 D RGD:9068941 20200702 RGD protein:increased activity:blood PMID:18937705|REF_RGD_ID:2315598 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:13608 biliary atresia disease_progression ISO RGD:735681 D RGD:9068941 20200702 RGD PMID:29056230|REF_RGD_ID:14701039 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:1574 alcohol use disorder ISO RGD:735681 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:12747453 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:1826 epilepsy ISO RGD:735681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:1909 melanoma disease_progression ISO RGD:735681 D RGD:9068941 20200702 RGD PMID:6120756|REF_RGD_ID:14747014 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:305 carcinoma ISO RGD:735681 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:409 liver disease ISO RGD:735681 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:5022 aflatoxins-related hepatocellular carcinoma ISO RGD:2683 D RGD:9068941 20220707 RGD associated with estrogen excess;protein:increased activity;liver (rat) PMID:6133380|REF_RGD_ID:152998935 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:5082 liver cirrhosis ISO RGD:735681 D RGD:9068941 20200702 RGD associated with Hepatitis B, Chronic; PMID:15997630|REF_RGD_ID:14747030 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:735681 D RGD:9068941 20200702 RGD PMID:27793641|REF_RGD_ID:14701041 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:5082 liver cirrhosis severity ISO RGD:735681 D RGD:9068941 20200702 RGD associated with Hepatitis B, Chronic; PMID:25254524|REF_RGD_ID:14747031 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:735681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:5844 myocardial infarction ISO RGD:735681 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:19419996 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:630 genetic disease ISO RGD:735681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735681 D RGD:9068941 20200702 RGD RNA,protein:increased expression, activity:liver: PMID:10572675|REF_RGD_ID:14701048 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735681 D RGD:9068941 20200702 RGD PMID:11940314|REF_RGD_ID:14701040 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735681 D RGD:9068941 20200702 RGD HBV associated PMID:27793641|REF_RGD_ID:14701041 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:824 periodontitis ISO RGD:735681 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:12747453 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:8947 diabetic retinopathy ISO RGD:735681 D RGD:9068941 20200702 RGD associated with Diabetes Mellitus,Insulin-Dependent;protein:increased activity:serum PMID:11311965|REF_RGD_ID:2315614 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735681 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:9000528 Coronary Disease ISO RGD:735681 D RGD:9068941 20200702 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:serum PMID:16772340|REF_RGD_ID:2315604 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:9001542 Albuminuria ISO RGD:735681 D RGD:9068941 20200702 RGD associated with Diabetes Mellitus; protein:increased activity:serum PMID:15890893|REF_RGD_ID:2315606 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:9001594 Paucibacillary Leprosy ISO RGD:735681 D RGD:9068941 20200702 RGD protein:increased activity:blood: PMID:1680936|REF_RGD_ID:14747017 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735681 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:735681 D RGD:9068941 20200702 RGD PMID:10934805|REF_RGD_ID:14747019 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735681 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2683 D RGD:9068941 20200702 RGD protein:increased activity:serum PMID:18291430|REF_RGD_ID:2315577 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:9005723 Multibacillary Leprosy ISO RGD:735681 D RGD:9068941 20200702 RGD protein:increased activity:blood: PMID:1680936|REF_RGD_ID:14747017 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:9005725 Iron Overload ISO RGD:2683 D RGD:9068941 20200702 RGD protein:increased activity:liver PMID:9559866|REF_RGD_ID:14747018 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:735681 D RGD:9068941 20200702 RGD PMID:24847614|REF_RGD_ID:14747015 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:735681 D RGD:9068941 20200702 RGD PMID:17095717|REF_RGD_ID:1601300 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2683 D RGD:9068941 20200702 RGD PMID:10934156|REF_RGD_ID:14701049 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:9351 diabetes mellitus ISO RGD:735681 D RGD:9068941 20200702 RGD associated with Cystic Fibrosis; protein:increased activity:plasma PMID:17888134|REF_RGD_ID:2315601 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735681 D RGD:9068941 20200702 RGD PMID:19936701|REF_RGD_ID:2315593 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:9452 fatty liver disease disease_progression ISO RGD:735681 D RGD:9068941 20200702 RGD PMID:19670414|REF_RGD_ID:14747016 32726238 GGT1 gamma-glutamyltransferase 1 gene DOID:9743 diabetic neuropathy ISO RGD:735681 D RGD:9068941 20200702 RGD associated with Diabetes Mellitus,Insulin-Dependent;protein:increased activity:serum PMID:11311965|REF_RGD_ID:2315614 32726285 TCP11X2 t-complex 11 family, X-linked 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:7243979 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 32726285 TCP11X2 t-complex 11 family, X-linked 2 gene DOID:12849 autistic disorder ISO RGD:7243979 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32726288 NKX2-4 NK2 homeobox 4 gene DOID:630 genetic disease ISO RGD:1343785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726313 GBX2 gastrulation brain homeobox 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1348762 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 32726313 GBX2 gastrulation brain homeobox 2 gene DOID:630 genetic disease ISO RGD:1348762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726313 GBX2 gastrulation brain homeobox 2 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1348762 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 32726336 CRCP CGRP receptor component gene DOID:11446 sciatic neuropathy ISO RGD:620753 D RGD:9068941 20230427 RGD PMID:12895509|REF_RGD_ID:727768 32726336 CRCP CGRP receptor component gene DOID:14755 argininosuccinic aciduria ISO RGD:1601760 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency PMID:28492532 32726336 CRCP CGRP receptor component gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601760 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 32726336 CRCP CGRP receptor component gene DOID:630 genetic disease ISO RGD:1601760 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726336 CRCP CGRP receptor component gene DOID:9002211 Hyperalgesia ISO RGD:620753 D RGD:9068941 20230427 RGD PMID:12895509|REF_RGD_ID:727768 32726343 ORM2 orosomucoid 2 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:737236 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 32726343 ORM2 orosomucoid 2 gene DOID:630 genetic disease ISO RGD:737236 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726343 ORM2 orosomucoid 2 gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:737236 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 32726368 HOXD4 homeobox D4 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1320172 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 32726368 HOXD4 homeobox D4 gene DOID:630 genetic disease ISO RGD:1320172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726368 HOXD4 homeobox D4 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1320172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to PMID:15776434 32726376 FRG2 FSHD region gene 2 gene DOID:2229 factor XI deficiency ISO RGD:1606060 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:34355501 32726376 FRG2 FSHD region gene 2 gene DOID:630 genetic disease ISO RGD:1606060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726376 FRG2 FSHD region gene 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 32726413 LOC117978979 tripartite motif-containing protein 43B gene DOID:630 genetic disease ISO RGD:1353905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726492 LOC117976484 keratin-associated protein 4-9 gene DOID:630 genetic disease ISO RGD:1352061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726499 CARD16 caspase recruitment domain family member 16 gene DOID:1059 intellectual disability ISO RGD:1606185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 32726499 CARD16 caspase recruitment domain family member 16 gene DOID:12704 ataxia telangiectasia ISO RGD:1606185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 32726499 CARD16 caspase recruitment domain family member 16 gene DOID:630 genetic disease ISO RGD:1606185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726499 CARD16 caspase recruitment domain family member 16 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 32726509 FRAT1 FRAT regulator of WNT signaling pathway 1 gene DOID:630 genetic disease ISO RGD:1604648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726615 TPRX1 tetrapeptide repeat homeobox 1 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1604487 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs12462695) C>A (human) PMID:27354594|REF_RGD_ID:152177496 32726615 TPRX1 tetrapeptide repeat homeobox 1 gene DOID:0110333 Leber congenital amaurosis 7 ISO RGD:1604487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 7 PMID:28492532|PMID:30557390 32726615 TPRX1 tetrapeptide repeat homeobox 1 gene DOID:630 genetic disease ISO RGD:1604487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726620 HRK harakiri, BCL2 interacting protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1620927 D RGD:9068941 20200702 RGD PMID:29440992|REF_RGD_ID:13506949 32726620 HRK harakiri, BCL2 interacting protein gene DOID:630 genetic disease ISO RGD:731025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726646 NDUFAF8 NADH:ubiquinone oxidoreductase complex assembly factor 8 gene DOID:0112091 nuclear type mitochondrial complex I deficiency 34 ISO RGD:1626571 D RGD:7240710 20230420 OMIM 32726646 NDUFAF8 NADH:ubiquinone oxidoreductase complex assembly factor 8 gene DOID:0112091 nuclear type mitochondrial complex I deficiency 34 ISO RGD:1626571 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34 PMID:25741868|PMID:31866046 32726646 NDUFAF8 NADH:ubiquinone oxidoreductase complex assembly factor 8 gene DOID:630 genetic disease ISO RGD:1626571 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726646 NDUFAF8 NADH:ubiquinone oxidoreductase complex assembly factor 8 gene DOID:700 mitochondrial metabolism disease ISO RGD:1626571 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:25741868|PMID:31866046 32726656 NEUROG2 neurogenin 2 gene DOID:12271 aniridia ISO RGD:1319191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 32726656 NEUROG2 neurogenin 2 gene DOID:630 genetic disease ISO RGD:1319191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726657 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:0060041 autism spectrum disorder ISO RGD:1318899 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 32726657 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1318899 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 32726657 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1318899 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 32726657 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:10283 prostate cancer ISO RGD:1318899 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 32726657 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:1059 intellectual disability ISO RGD:1318899 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability 32726657 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:11198 DiGeorge syndrome ISO RGD:1318899 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 32726657 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:11372 megacolon ISO RGD:1318899 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 32726657 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:12583 velocardiofacial syndrome ISO RGD:1318899 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 32726657 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:12849 autistic disorder ISO RGD:1318899 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32726657 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:1826 epilepsy ISO RGD:1318899 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epilepsy 32726657 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:2213 hemorrhagic disease ISO RGD:1318899 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 32726657 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:5419 schizophrenia ISO RGD:1318899 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 32726657 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:612 primary immunodeficiency disease ISO RGD:1318899 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 32726657 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:630 genetic disease ISO RGD:1318899 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726657 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:9003871 Venous Thrombosis ISO RGD:1318899 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 32726657 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318899 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 32726657 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:9007661 Dwarfism ISO RGD:1318899 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 32726686 MARCKS myristoylated alanine rich protein kinase C substrate gene DOID:0060163 body dysmorphic disorder ISO RGD:735485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 32726686 MARCKS myristoylated alanine rich protein kinase C substrate gene DOID:0080202 adenoid cystic carcinoma ISO RGD:735485 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 32726686 MARCKS myristoylated alanine rich protein kinase C substrate gene DOID:11832 visual epilepsy ISO RGD:3028 D RGD:9068941 20200702 RGD PMID:11054811|REF_RGD_ID:9685329 32726686 MARCKS myristoylated alanine rich protein kinase C substrate gene DOID:3883 Lynch syndrome ISO RGD:735485 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 32726686 MARCKS myristoylated alanine rich protein kinase C substrate gene DOID:630 genetic disease ISO RGD:735485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1395931|PMID:1560845|PMID:16046479 32726686 MARCKS myristoylated alanine rich protein kinase C substrate gene DOID:7148 rheumatoid arthritis ISO RGD:735485 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 32726686 MARCKS myristoylated alanine rich protein kinase C substrate gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:735485 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 32726686 MARCKS myristoylated alanine rich protein kinase C substrate gene DOID:9005172 Lung Neoplasms ISO RGD:735485 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 32726746 LILRA6 leukocyte immunoglobulin like receptor A6 gene DOID:630 genetic disease ISO RGD:1603957 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726746 LILRA6 leukocyte immunoglobulin like receptor A6 gene DOID:850 lung disease ISO RGD:1317898 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:21602193 32726757 TPSG1 tryptase gamma 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1344751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 32726757 TPSG1 tryptase gamma 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1344751 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 32726757 TPSG1 tryptase gamma 1 gene DOID:1826 epilepsy ISO RGD:1344751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 32726757 TPSG1 tryptase gamma 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 32726757 TPSG1 tryptase gamma 1 gene DOID:630 genetic disease ISO RGD:1344751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726766 SCGB3A1 secretoglobin family 3A member 1 gene DOID:289 endometriosis ISO RGD:1343531 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 32726766 SCGB3A1 secretoglobin family 3A member 1 gene DOID:630 genetic disease ISO RGD:1343531 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726774 MFAP2 microfibril associated protein 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1314413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 32726774 MFAP2 microfibril associated protein 2 gene DOID:5119 ovarian cyst ISO RGD:1314413 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 32726774 MFAP2 microfibril associated protein 2 gene DOID:630 genetic disease ISO RGD:1314413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726792 LINGO3 leucine rich repeat and Ig domain containing 3 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1354064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 32726792 LINGO3 leucine rich repeat and Ig domain containing 3 gene DOID:2661 myoepithelioma ISO RGD:1354064 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 32726792 LINGO3 leucine rich repeat and Ig domain containing 3 gene DOID:630 genetic disease ISO RGD:1354064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726792 LINGO3 leucine rich repeat and Ig domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 32726808 CCNI2 cyclin I family member 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:2290194 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 32726808 CCNI2 cyclin I family member 2 gene DOID:630 genetic disease ISO RGD:2290194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726808 CCNI2 cyclin I family member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2290194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 32726808 CCNI2 cyclin I family member 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:2290194 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 32726829 GPER1 G protein-coupled estrogen receptor 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:735664 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:30165855 32726829 GPER1 G protein-coupled estrogen receptor 1 gene DOID:0080600 COVID-19 ISO RGD:735664 D RGD:9068941 20230427 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 32726829 GPER1 G protein-coupled estrogen receptor 1 gene DOID:127 leiomyoma ISO RGD:735664 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:31468104 32726829 GPER1 G protein-coupled estrogen receptor 1 gene DOID:14320 generalized anxiety disorder severity ISO RGD:735664 D RGD:9068941 20230427 RGD protein:increased expression:serum (human) PMID:27512921|REF_RGD_ID:39938860 32726829 GPER1 G protein-coupled estrogen receptor 1 gene DOID:1909 melanoma severity ISO RGD:735664 D RGD:9068941 20230427 RGD protein:increased expression:skin (human) PMID:28467693|REF_RGD_ID:39939016 32726829 GPER1 G protein-coupled estrogen receptor 1 gene DOID:289 endometriosis ISO RGD:731530 D RGD:9068941 20230427 RGD protein:decreased expression:endometrium (mouse) PMID:32152908|REF_RGD_ID:39938861 32726829 GPER1 G protein-coupled estrogen receptor 1 gene DOID:289 endometriosis ISO RGD:735664 D RGD:9068941 20230427 RGD protein:increased expression:endometrium, cytoplasm (human) PMID:22520060|REF_RGD_ID:39939083 32726829 GPER1 G protein-coupled estrogen receptor 1 gene DOID:630 genetic disease ISO RGD:735664 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726829 GPER1 G protein-coupled estrogen receptor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:619845 D RGD:9068941 20230427 RGD PMID:22975889|REF_RGD_ID:8552988 32726829 GPER1 G protein-coupled estrogen receptor 1 gene DOID:9005369 Hepatomegaly ISO RGD:735664 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:30641053 32726829 GPER1 G protein-coupled estrogen receptor 1 gene DOID:9007188 Liver Neoplasms ISO RGD:735664 D RGD:9068941 20230427 CTD CTD Direct Evidence: therapeutic PMID:30641053 32726829 GPER1 G protein-coupled estrogen receptor 1 gene DOID:9007204 Dysbiosis ameliorates ISO RGD:619845 D RGD:9068941 20230427 RGD PMID:30354811|REF_RGD_ID:39939000 32726829 GPER1 G protein-coupled estrogen receptor 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:735664 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:21984484 32726829 GPER1 G protein-coupled estrogen receptor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735664 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:24440569 32726850 SPACDR sperm acrosome developmental regulator gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 32726866 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:0110225 Brugada syndrome 8 ISO RGD:1317726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 32726866 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:2717 Bloom syndrome ISO RGD:1317726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 32726866 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:3320 Tay-Sachs disease ISO RGD:1317726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 32726866 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:3627 aortic aneurysm ISO RGD:1317726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm PMID:28492532|PMID:29689197 32726866 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1317726 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 32726866 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:9256 colorectal cancer ISO RGD:1317726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 32726896 LOC117979756 histone H1.10 gene DOID:0080600 COVID-19 ISO RGD:1354284 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 32726896 LOC117979756 histone H1.10 gene DOID:0111947 immunodeficiency 21 ISO RGD:1354284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 32726896 LOC117979756 histone H1.10 gene DOID:3910 lung adenocarcinoma ISO RGD:1620558 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 32726896 LOC117979756 histone H1.10 gene DOID:630 genetic disease ISO RGD:1354284 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726896 LOC117979756 histone H1.10 gene DOID:9006205 Animal Disease Models ISO RGD:1620558 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 32726896 LOC117979756 histone H1.10 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1354284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 32726896 LOC117979756 histone H1.10 gene DOID:9270 alkaptonuria ISO RGD:1354284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 32726908 CELF5 CUGBP Elav-like family member 5 gene DOID:630 genetic disease ISO RGD:1345217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726908 CELF5 CUGBP Elav-like family member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 32726965 TXNIP thioredoxin interacting protein gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1343574 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 32726965 TXNIP thioredoxin interacting protein gene DOID:0080600 COVID-19 ISO RGD:1343574 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 32726965 TXNIP thioredoxin interacting protein gene DOID:0111027 hemochromatosis type 2A ISO RGD:1343574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 2A PMID:28492532 32726965 TXNIP thioredoxin interacting protein gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1343574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 32726965 TXNIP thioredoxin interacting protein gene DOID:1540 parathyroid carcinoma ISO RGD:1343574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 32726965 TXNIP thioredoxin interacting protein gene DOID:289 endometriosis ISO RGD:1343574 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 32726965 TXNIP thioredoxin interacting protein gene DOID:5419 schizophrenia ISO RGD:1343574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 32726965 TXNIP thioredoxin interacting protein gene DOID:630 genetic disease ISO RGD:1343574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726965 TXNIP thioredoxin interacting protein gene DOID:7148 rheumatoid arthritis ISO RGD:1343574 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 32726965 TXNIP thioredoxin interacting protein gene DOID:9000217 Stomach Neoplasms ISO RGD:1343574 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35246762 32726965 TXNIP thioredoxin interacting protein gene DOID:9000918 Disease Progression ISO RGD:1343574 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 32726965 TXNIP thioredoxin interacting protein gene DOID:9002165 Diabetic Nephropathies ISO RGD:1343574 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:17582205 32726965 TXNIP thioredoxin interacting protein gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:1343574 D RGD:9068941 20200702 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:3' utr PMID:17381501|REF_RGD_ID:1642750 32726965 TXNIP thioredoxin interacting protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 32726974 PRB4 proline rich protein BstNI subfamily 4 gene DOID:630 genetic disease ISO RGD:1352111 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726993 GGTLC1 gamma-glutamyltransferase light chain 1 gene DOID:630 genetic disease ISO RGD:1343352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726995 DEFB135 defensin beta 135 gene DOID:14004 thoracic aortic aneurysm ISO RGD:2307454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:32748548 32726995 DEFB135 defensin beta 135 gene DOID:630 genetic disease ISO RGD:2307454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32726995 DEFB135 defensin beta 135 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2307454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 32727006 CADM4 cell adhesion molecule 4 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1312331 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 32727006 CADM4 cell adhesion molecule 4 gene DOID:5419 schizophrenia ISO RGD:1312331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 32727006 CADM4 cell adhesion molecule 4 gene DOID:630 genetic disease ISO RGD:1312331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727014 FOXQ1 forkhead box Q1 gene DOID:630 genetic disease ISO RGD:732997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727014 FOXQ1 forkhead box Q1 gene DOID:9008939 Breast Neoplasms ISO RGD:732997 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:27129776 32727051 LOC117979297 aquaporin-12B gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1346803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 32727051 LOC117979297 aquaporin-12B gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1346803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 32727051 LOC117979297 aquaporin-12B gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1346803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 32727051 LOC117979297 aquaporin-12B gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1346803 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 32727051 LOC117979297 aquaporin-12B gene DOID:1059 intellectual disability ISO RGD:1346803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 32727051 LOC117979297 aquaporin-12B gene DOID:630 genetic disease ISO RGD:1346803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727051 LOC117979297 aquaporin-12B gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1346803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 32727122 KANK1 KN motif and ankyrin repeat domains 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1317065 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 32727122 KANK1 KN motif and ankyrin repeat domains 1 gene DOID:0080545 hyper IgE syndrome ISO RGD:1317065 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive PMID:28492532 32727122 KANK1 KN motif and ankyrin repeat domains 1 gene DOID:0080594 hyper IgE recurrent infection syndrome 2 ISO RGD:1317065 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE PMID:28492532 32727122 KANK1 KN motif and ankyrin repeat domains 1 gene DOID:13580 cholestasis ISO RGD:1317065 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 32727122 KANK1 KN motif and ankyrin repeat domains 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1317065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532 32727122 KANK1 KN motif and ankyrin repeat domains 1 gene DOID:4450 renal cell carcinoma ISO RGD:1317065 D RGD:9068941 20200702 RGD DNA, mRNA, protein:hypermethylation, decreased expression:kidney PMID:12133830|REF_RGD_ID:2315654 32727122 KANK1 KN motif and ankyrin repeat domains 1 gene DOID:5419 schizophrenia ISO RGD:1317065 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 32727122 KANK1 KN motif and ankyrin repeat domains 1 gene DOID:630 genetic disease ISO RGD:1317065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 32727122 KANK1 KN motif and ankyrin repeat domains 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317065 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 32727122 KANK1 KN motif and ankyrin repeat domains 1 gene DOID:9003517 Spastic Quadriplegic Cerebral Palsy 2 ISO RGD:1317065 D RGD:7240710 20200701 OMIM 32727122 KANK1 KN motif and ankyrin repeat domains 1 gene DOID:9003517 Spastic Quadriplegic Cerebral Palsy 2 ISO RGD:1317065 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 2 | ClinVar Annotator: match by term: KANK1- Related Disorder PMID:16301218|PMID:25741868|PMID:28492532 32727122 KANK1 KN motif and ankyrin repeat domains 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 32727125 APOBEC3D apolipoprotein B mRNA editing enzyme catalytic subunit 3D gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1349209 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 32727125 APOBEC3D apolipoprotein B mRNA editing enzyme catalytic subunit 3D gene DOID:630 genetic disease ISO RGD:1349209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727138 MAFA MAF bZIP transcription factor A gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:1557163 D RGD:9068941 20220825 MouseDO OMIM:606391 32727138 MAFA MAF bZIP transcription factor A gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1604438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 32727138 MAFA MAF bZIP transcription factor A gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1604438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 32727138 MAFA MAF bZIP transcription factor A gene DOID:4621 holoprosencephaly ISO RGD:1604438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 32727138 MAFA MAF bZIP transcription factor A gene DOID:630 genetic disease ISO RGD:1604438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727138 MAFA MAF bZIP transcription factor A gene DOID:9000609 Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus ISO RGD:1604438 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus PMID:25741868 32727138 MAFA MAF bZIP transcription factor A gene DOID:9004540 Islet Cell Adenomatosis ISO RGD:1604438 D RGD:7240710 20200701 OMIM 32727138 MAFA MAF bZIP transcription factor A gene DOID:9004540 Islet Cell Adenomatosis ISO RGD:1604438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Islet cell adenomatosis PMID:25741868|PMID:29339498 32727138 MAFA MAF bZIP transcription factor A gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:1557163 D RGD:9068941 20200702 RGD PMID:28487936|REF_RGD_ID:13506743 32727138 MAFA MAF bZIP transcription factor A gene DOID:9351 diabetes mellitus treatment ISO RGD:1562627 D RGD:9068941 20200702 RGD PMID:23801580|REF_RGD_ID:13506744 32727138 MAFA MAF bZIP transcription factor A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1557163 D RGD:9068941 20200702 RGD protein:decreased expression:beta cells of pancrea PMID:20424231|REF_RGD_ID:13506745 32727138 MAFA MAF bZIP transcription factor A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1557163 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 32727138 MAFA MAF bZIP transcription factor A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604438 D RGD:9068941 20200702 RGD protein:decreased expression:islet: PMID:24013263|REF_RGD_ID:13506742 32727141 SOSTDC1 sclerostin domain containing 1 gene DOID:0111234 congenital muscular dystrophy-dystroglycanopathy A7 ISO RGD:1343094 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 PMID:23288328|PMID:28492532 32727141 SOSTDC1 sclerostin domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343094 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 32727141 SOSTDC1 sclerostin domain containing 1 gene DOID:630 genetic disease ISO RGD:1343094 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727183 CYS1 cystin 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1606435 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:25741868|PMID:34521872 32727183 CYS1 cystin 1 gene DOID:10534 stomach cancer severity ISO RGD:1606435 D RGD:9068941 20220616 RGD mRNA:altered expression:stomach tumor (human) PMID:28035468|REF_RGD_ID:152995287 32727183 CYS1 cystin 1 gene DOID:630 genetic disease ISO RGD:1606435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727205 PTH2 parathyroid hormone 2 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1601727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 32727205 PTH2 parathyroid hormone 2 gene DOID:630 genetic disease ISO RGD:1601727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727209 P2RY11 purinergic receptor P2Y11 gene DOID:630 genetic disease ISO RGD:1346111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727209 P2RY11 purinergic receptor P2Y11 gene DOID:8986 narcolepsy ISO RGD:1346111 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:21170044 32727209 P2RY11 purinergic receptor P2Y11 gene DOID:9004136 Cataplexy and Narcolepsy ISO RGD:1346111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataplexy and narcolepsy PMID:25669430 32727213 LOC117978155 olfactory receptor 6C4 gene DOID:630 genetic disease ISO RGD:1345773 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727217 APOBEC3A apolipoprotein B mRNA editing enzyme catalytic subunit 3A gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1351728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 32727217 APOBEC3A apolipoprotein B mRNA editing enzyme catalytic subunit 3A gene DOID:14566 disease of cellular proliferation ISO RGD:1351728 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:26258849 32727217 APOBEC3A apolipoprotein B mRNA editing enzyme catalytic subunit 3A gene DOID:630 genetic disease ISO RGD:1351728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727217 APOBEC3A apolipoprotein B mRNA editing enzyme catalytic subunit 3A gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1351728 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 32727217 APOBEC3A apolipoprotein B mRNA editing enzyme catalytic subunit 3A gene DOID:9008192 Neoplastic Processes ISO RGD:1351728 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:26258849 32727217 APOBEC3A apolipoprotein B mRNA editing enzyme catalytic subunit 3A gene DOID:9008939 Breast Neoplasms ISO RGD:1351728 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:24728294 32727218 CHFR checkpoint with forkhead and ring finger domains gene DOID:3908 lung non-small cell carcinoma ISO RGD:1314932 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:20705357 32727218 CHFR checkpoint with forkhead and ring finger domains gene DOID:630 genetic disease ISO RGD:1314932 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727218 CHFR checkpoint with forkhead and ring finger domains gene DOID:9000217 Stomach Neoplasms ISO RGD:1314932 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 32727218 CHFR checkpoint with forkhead and ring finger domains gene DOID:9007715 Endometrial Neoplasms ISO RGD:1314932 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:17143476 32727218 CHFR checkpoint with forkhead and ring finger domains gene DOID:9256 colorectal cancer ISO RGD:1314932 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:23230001|PMID:25948378|PMID:28492532|PMID:30503519 32727219 CITED4 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1354399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 32727219 CITED4 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 4 gene DOID:630 genetic disease ISO RGD:1354399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727251 POLR2L RNA polymerase II, I and III subunit L gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1349201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 32727251 POLR2L RNA polymerase II, I and III subunit L gene DOID:0080773 delta beta-thalassemia ISO RGD:1349201 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 32727251 POLR2L RNA polymerase II, I and III subunit L gene DOID:0111969 immunodeficiency 39 ISO RGD:1349201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 32727251 POLR2L RNA polymerase II, I and III subunit L gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1349201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 32727251 POLR2L RNA polymerase II, I and III subunit L gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1349201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 32727251 POLR2L RNA polymerase II, I and III subunit L gene DOID:630 genetic disease ISO RGD:1349201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727251 POLR2L RNA polymerase II, I and III subunit L gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1349201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 32727274 HSPA6 heat shock protein family A (Hsp70) member 6 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1346401 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 32727274 HSPA6 heat shock protein family A (Hsp70) member 6 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1346401 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 32727274 HSPA6 heat shock protein family A (Hsp70) member 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1346401 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 32727274 HSPA6 heat shock protein family A (Hsp70) member 6 gene DOID:630 genetic disease ISO RGD:1346401 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727274 HSPA6 heat shock protein family A (Hsp70) member 6 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1346401 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 32727274 HSPA6 heat shock protein family A (Hsp70) member 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346401 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 32727295 LOC117975990 golgin subfamily A member 8B gene DOID:0110317 hypertrophic cardiomyopathy 11 ISO RGD:1604639 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 PMID:18458017|PMID:27125413|PMID:28492532 32727295 LOC117975990 golgin subfamily A member 8B gene DOID:2717 Bloom syndrome ISO RGD:1604639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 32727295 LOC117975990 golgin subfamily A member 8B gene DOID:630 genetic disease ISO RGD:1604639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727295 LOC117975990 golgin subfamily A member 8B gene DOID:9256 colorectal cancer ISO RGD:1604639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 32727339 UNCX UNC homeobox gene DOID:630 genetic disease ISO RGD:1626690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727344 HMGA2 high mobility group AT-hook 2 gene DOID:127 leiomyoma ISO RGD:1348013 D RGD:9068941 20200702 RGD uterine leiomyoma, OMIM:150699; DNA:gene fusion:exon:RTVL-H 3-prime LTRs fused to exon 3 PMID:8954805|REF_RGD_ID:1601568 32727344 HMGA2 high mobility group AT-hook 2 gene DOID:13223 uterine fibroid ISO RGD:1348013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uterine leiomyoma 32727344 HMGA2 high mobility group AT-hook 2 gene DOID:14566 disease of cellular proliferation ISO RGD:1348013 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:18413806 32727344 HMGA2 high mobility group AT-hook 2 gene DOID:2394 ovarian cancer ISO RGD:1348013 D RGD:9068941 20200702 RGD PMID:18452175|REF_RGD_ID:5147841 32727344 HMGA2 high mobility group AT-hook 2 gene DOID:3315 lipoma ISO RGD:1348013 D RGD:9068941 20200702 RGD DNA:multiple chromosomal rearrangements PMID:7606786|REF_RGD_ID:1601567 32727344 HMGA2 high mobility group AT-hook 2 gene DOID:630 genetic disease ISO RGD:1348013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727344 HMGA2 high mobility group AT-hook 2 gene DOID:9003996 Birth Weight ISO RGD:1348013 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:23202124 32727344 HMGA2 high mobility group AT-hook 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1348013 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:28830677 32727344 HMGA2 high mobility group AT-hook 2 gene DOID:9007070 Silver-Russell Syndrome 1 ISO RGD:1348013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 1 PMID:28796236 32727344 HMGA2 high mobility group AT-hook 2 gene DOID:9007253 Hamartoma ISO RGD:1348013 D RGD:9068941 20200702 RGD pulmonary chondroid hamartoma; DNA:gene fusion:exon:RTVL-H 3-prime LTRs fused to exon 3 PMID:8954805|REF_RGD_ID:1601568 32727344 HMGA2 high mobility group AT-hook 2 gene DOID:9007453 Silver-Russell Syndrome 5 ISO RGD:1348013 D RGD:7240710 20200701 OMIM 32727344 HMGA2 high mobility group AT-hook 2 gene DOID:9007453 Silver-Russell Syndrome 5 ISO RGD:1348013 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 5 PMID:25741868|PMID:25809938|PMID:28492532|PMID:28796236|PMID:29453418 32727344 HMGA2 high mobility group AT-hook 2 gene DOID:9970 obesity ISO RGD:1552855 D RGD:9068941 20200702 RGD PMID:10742101|REF_RGD_ID:1601569 32727346 ZNF628 zinc finger protein 628 gene DOID:630 genetic disease ISO RGD:1606755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727422 GP1BB glycoprotein Ib platelet subunit beta gene DOID:0060041 autism spectrum disorder ISO RGD:1345881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 32727422 GP1BB glycoprotein Ib platelet subunit beta gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1345881 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 32727422 GP1BB glycoprotein Ib platelet subunit beta gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1345881 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 32727422 GP1BB glycoprotein Ib platelet subunit beta gene DOID:0111996 immunodeficiency 51 ISO RGD:1345881 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 32727422 GP1BB glycoprotein Ib platelet subunit beta gene DOID:1059 intellectual disability ISO RGD:1345881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 32727422 GP1BB glycoprotein Ib platelet subunit beta gene DOID:11198 DiGeorge syndrome ISO RGD:1345881 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 32727422 GP1BB glycoprotein Ib platelet subunit beta gene DOID:11372 megacolon ISO RGD:1345881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 32727422 GP1BB glycoprotein Ib platelet subunit beta gene DOID:11612 polycystic ovary syndrome ISO RGD:1345881 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 32727422 GP1BB glycoprotein Ib platelet subunit beta gene DOID:12583 velocardiofacial syndrome ISO RGD:1345881 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 32727422 GP1BB glycoprotein Ib platelet subunit beta gene DOID:12849 autistic disorder ISO RGD:1345881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32727422 GP1BB glycoprotein Ib platelet subunit beta gene DOID:1588 thrombocytopenia ISO RGD:1345881 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10887115|PMID:25741868|PMID:31064749|PMID:32581362|PMID:34355501 32727422 GP1BB glycoprotein Ib platelet subunit beta gene DOID:1682 congenital heart disease ISO RGD:1345881 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:15213848 32727422 GP1BB glycoprotein Ib platelet subunit beta gene DOID:1826 epilepsy ISO RGD:1345881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 32727422 GP1BB glycoprotein Ib platelet subunit beta gene DOID:2213 hemorrhagic disease ISO RGD:1345881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 32727422 GP1BB glycoprotein Ib platelet subunit beta gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1345881 D RGD:7240710 20200701 OMIM 32727422 GP1BB glycoprotein Ib platelet subunit beta gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1345881 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome PMID:10887115|PMID:17109744|PMID:25741868|PMID:28492532|PMID:31064749|PMID:32581362|PMID:34355501 32727422 GP1BB glycoprotein Ib platelet subunit beta gene DOID:2217 Bernard-Soulier syndrome severity ISO RGD:1345881 D RGD:9068941 20200702 RGD DNA:missense mutation:exon:c.281A>G(p.D94G)(human) PMID:28131619|REF_RGD_ID:13464128 32727422 GP1BB glycoprotein Ib platelet subunit beta gene DOID:3410 carotid artery thrombosis ISO RGD:732124 D RGD:9068941 20200702 RGD PMID:17095718|REF_RGD_ID:11040529 32727422 GP1BB glycoprotein Ib platelet subunit beta gene DOID:5419 schizophrenia ISO RGD:1345881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 32727422 GP1BB glycoprotein Ib platelet subunit beta gene DOID:612 primary immunodeficiency disease ISO RGD:1345881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 32727422 GP1BB glycoprotein Ib platelet subunit beta gene DOID:630 genetic disease ISO RGD:1345881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727422 GP1BB glycoprotein Ib platelet subunit beta gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1345881 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 32727422 GP1BB glycoprotein Ib platelet subunit beta gene DOID:9003121 Thromboembolism ISO RGD:732124 D RGD:9068941 20200702 RGD PMID:17095718|REF_RGD_ID:11040529 32727422 GP1BB glycoprotein Ib platelet subunit beta gene DOID:9003871 Venous Thrombosis ISO RGD:1345881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 32727422 GP1BB glycoprotein Ib platelet subunit beta gene DOID:9004082 Mesenteric Ischemia ISO RGD:732124 D RGD:9068941 20200702 RGD PMID:17095718|REF_RGD_ID:11040529 32727422 GP1BB glycoprotein Ib platelet subunit beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 32727422 GP1BB glycoprotein Ib platelet subunit beta gene DOID:9006593 Bernard-Soulier Syndrome, Type B ISO RGD:1345881 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bernard-Soulier syndrome, type B | ClinVar Annotator: match by term: Macrothrombocytopenia, familial, Bernard-Soulier type PMID:10887115|PMID:18414213|PMID:25741868|PMID:31064749|PMID:32581362|PMID:34355501|PMID:7633430|PMID:8703016|PMID:9116284 32727422 GP1BB glycoprotein Ib platelet subunit beta gene DOID:9007661 Dwarfism ISO RGD:1345881 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 32727422 GP1BB glycoprotein Ib platelet subunit beta gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1345881 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 32727422 GP1BB glycoprotein Ib platelet subunit beta gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1345881 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:15213848 32727466 LOC117976628 complement factor H-related protein 4 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1351940 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868|PMID:28492532 32727466 LOC117976628 complement factor H-related protein 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1351940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 32727466 LOC117976628 complement factor H-related protein 4 gene DOID:557 kidney disease ISO RGD:1351940 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868 32727466 LOC117976628 complement factor H-related protein 4 gene DOID:630 genetic disease ISO RGD:1351940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 32727466 LOC117976628 complement factor H-related protein 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 32727474 TMSB4X thymosin beta 4 X-linked gene DOID:0050777 Joubert syndrome ISO RGD:736781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:27081566|PMID:28492532 32727474 TMSB4X thymosin beta 4 X-linked gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:736781 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 32727474 TMSB4X thymosin beta 4 X-linked gene DOID:12849 autistic disorder ISO RGD:736781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32727474 TMSB4X thymosin beta 4 X-linked gene DOID:9002304 Prostatic Neoplasms ISO RGD:736781 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:17916567 32727474 TMSB4X thymosin beta 4 X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 32727494 LOC117980349 histone H3 gene DOID:1540 parathyroid carcinoma ISO RGD:1342896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 32727494 LOC117980349 histone H3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1342896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 32727545 EN1 engrailed homeobox 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1351603 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 32727545 EN1 engrailed homeobox 1 gene DOID:0080855 Parkinsonism ISO RGD:1557783 D RGD:9068941 20200702 RGD PMID:17015829|REF_RGD_ID:5687199 32727545 EN1 engrailed homeobox 1 gene DOID:14330 Parkinson's disease ISO RGD:1351603 D RGD:9068941 20200702 RGD DNA:SNP:enhancer: (rs1438852) (human) PMID:19345444|REF_RGD_ID:5687197 32727545 EN1 engrailed homeobox 1 gene DOID:14330 Parkinson's disease ISO RGD:1618434 D RGD:9068941 20220825 MouseDO 32727545 EN1 engrailed homeobox 1 gene DOID:630 genetic disease ISO RGD:1351603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727545 EN1 engrailed homeobox 1 gene DOID:863 nervous system disease ISO RGD:1351603 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:21892157 32727545 EN1 engrailed homeobox 1 gene DOID:9000530 ENDOVE SYNDROME, LIMB-BRAIN TYPE ISO RGD:1351603 D RGD:7240710 20210414 OMIM 32727545 EN1 engrailed homeobox 1 gene DOID:9000530 ENDOVE SYNDROME, LIMB-BRAIN TYPE ISO RGD:1351603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endove syndrome, limb-brain type PMID:33568816 32727545 EN1 engrailed homeobox 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1351603 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 32727545 EN1 engrailed homeobox 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1351603 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 32727546 ANKRD33B ankyrin repeat domain 33B gene DOID:630 genetic disease ISO RGD:2307384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727547 WASHC2C WASH complex subunit 2C gene DOID:630 genetic disease ISO RGD:1349964 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727562 TMEM217B transmembrane protein 217B gene DOID:630 genetic disease ISO RGD:127285489 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727567 LOC117976483 keratin-associated protein 9-3 gene DOID:630 genetic disease ISO RGD:1347666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727595 SLC22A24 solute carrier family 22 member 24 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 32727595 SLC22A24 solute carrier family 22 member 24 gene DOID:1059 intellectual disability ISO RGD:1603866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 32727595 SLC22A24 solute carrier family 22 member 24 gene DOID:3021 acute kidney failure ISO RGD:1603866 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:23649842|PMID:26230185 32727595 SLC22A24 solute carrier family 22 member 24 gene DOID:630 genetic disease ISO RGD:1603866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727623 MEIG1 meiosis/spermiogenesis associated 1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1348116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 32727623 MEIG1 meiosis/spermiogenesis associated 1 gene DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation ISO RGD:1348116 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency PMID:14744996|PMID:15071507|PMID:19912631|PMID:21664875|PMID:25741868|PMID:26123418|PMID:28492532 32727623 MEIG1 meiosis/spermiogenesis associated 1 gene DOID:630 genetic disease ISO RGD:1348116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727667 LOC117976139 cytosolic phospholipase A2 beta gene DOID:630 genetic disease ISO RGD:2290030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727667 LOC117976139 cytosolic phospholipase A2 beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2290030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 32727724 IPCEF1 interaction protein for cytohesin exchange factors 1 gene DOID:1037 lymphoid leukemia ISO RGD:1603404 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:24292274 32727724 IPCEF1 interaction protein for cytohesin exchange factors 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1603404 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 32727724 IPCEF1 interaction protein for cytohesin exchange factors 1 gene DOID:630 genetic disease ISO RGD:1603404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727725 FAM170B family with sequence similarity 170 member B gene DOID:11372 megacolon ISO RGD:1346857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 32727725 FAM170B family with sequence similarity 170 member B gene DOID:5419 schizophrenia ISO RGD:1346857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 32727725 FAM170B family with sequence similarity 170 member B gene DOID:630 genetic disease ISO RGD:1346857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727772 MSANTD7 Myb/SANT DNA binding domain containing 7 gene DOID:630 genetic disease ISO RGD:1350459 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727801 XAGE5 X antigen family member 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 32727801 XAGE5 X antigen family member 5 gene DOID:12849 autistic disorder ISO RGD:1353781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32727801 XAGE5 X antigen family member 5 gene DOID:630 genetic disease ISO RGD:1353781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727814 SHLD2 shieldin complex subunit 2 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1354134 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 32727814 SHLD2 shieldin complex subunit 2 gene DOID:0070217 familial hyperinsulinemic hypoglycemia 6 ISO RGD:1354134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome PMID:25741868|PMID:26467025|PMID:28492532 32727814 SHLD2 shieldin complex subunit 2 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1354134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 32727814 SHLD2 shieldin complex subunit 2 gene DOID:2018 hyperinsulinism ISO RGD:1354134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperinsulinism, Dominant 32727814 SHLD2 shieldin complex subunit 2 gene DOID:630 genetic disease ISO RGD:1354134 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 32727814 SHLD2 shieldin complex subunit 2 gene DOID:9351 diabetes mellitus ISO RGD:1354134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 32727819 GID4 GID complex subunit 4 homolog gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1322085 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 32727819 GID4 GID complex subunit 4 homolog gene DOID:0050777 Joubert syndrome ISO RGD:1322085 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 32727819 GID4 GID complex subunit 4 homolog gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1322085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 32727819 GID4 GID complex subunit 4 homolog gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1322085 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 32727819 GID4 GID complex subunit 4 homolog gene DOID:12849 autistic disorder ISO RGD:1322085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32727819 GID4 GID complex subunit 4 homolog gene DOID:630 genetic disease ISO RGD:1322085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727849 FEM1A fem-1 homolog A gene DOID:630 genetic disease ISO RGD:1353975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727865 SMIM28 small integral membrane protein 28 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:13208474 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 32727903 LBX1 ladybird homeobox 1 gene DOID:0090020 split hand-foot malformation ISO RGD:1606568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation PMID:21681106 32727903 LBX1 ladybird homeobox 1 gene DOID:630 genetic disease ISO RGD:1606568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727903 LBX1 ladybird homeobox 1 gene DOID:9002001 Congenital Central Hypoventilation Syndrome 3 ISO RGD:1606568 D RGD:7240710 20211006 OMIM 32727903 LBX1 ladybird homeobox 1 gene DOID:9002001 Congenital Central Hypoventilation Syndrome 3 ISO RGD:1606568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 3 PMID:30487221 32727903 LBX1 ladybird homeobox 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1606568 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:19651985 32727947 QPRT quinolinate phosphoribosyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:1321139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 32727947 QPRT quinolinate phosphoribosyltransferase gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1321139 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 32727947 QPRT quinolinate phosphoribosyltransferase gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1321139 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 32727947 QPRT quinolinate phosphoribosyltransferase gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1321139 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 32727947 QPRT quinolinate phosphoribosyltransferase gene DOID:12849 autistic disorder ISO RGD:1321139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32727947 QPRT quinolinate phosphoribosyltransferase gene DOID:12858 Huntington's disease ISO RGD:1310309 D RGD:9068941 20200702 RGD PMID:2527078|REF_RGD_ID:13524507 32727947 QPRT quinolinate phosphoribosyltransferase gene DOID:1882 atrial heart septal defect ISO RGD:1321139 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 32727947 QPRT quinolinate phosphoribosyltransferase gene DOID:5419 schizophrenia ISO RGD:1321139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 32727947 QPRT quinolinate phosphoribosyltransferase gene DOID:630 genetic disease ISO RGD:1321139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32727947 QPRT quinolinate phosphoribosyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 32727947 QPRT quinolinate phosphoribosyltransferase gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1321139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 32727955 ACTR3B actin related protein 3B gene DOID:12849 autistic disorder ISO RGD:1603621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32727955 ACTR3B actin related protein 3B gene DOID:630 genetic disease ISO RGD:1603621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728039 PRDM7 PR/SET domain 7 gene DOID:630 genetic disease ISO RGD:1313164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728055 LOC117975185 histone H4 gene DOID:1540 parathyroid carcinoma ISO RGD:1605451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 32728055 LOC117975185 histone H4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 32728091 ZXDA zinc finger X-linked duplicated A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 32728091 ZXDA zinc finger X-linked duplicated A gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1347860 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:9383023 32728091 ZXDA zinc finger X-linked duplicated A gene DOID:0111406 Fraser syndrome 3 ISO RGD:1347860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 32728091 ZXDA zinc finger X-linked duplicated A gene DOID:12849 autistic disorder ISO RGD:1347860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32728091 ZXDA zinc finger X-linked duplicated A gene DOID:630 genetic disease ISO RGD:1347860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728206 PROP1 PROP paired-like homeobox 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1344010 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 32728206 PROP1 PROP paired-like homeobox 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1344010 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 32728206 PROP1 PROP paired-like homeobox 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1344010 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 32728206 PROP1 PROP paired-like homeobox 1 gene DOID:13938 amenorrhea ISO RGD:1344010 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:28492532|PMID:32870266 32728206 PROP1 PROP paired-like homeobox 1 gene DOID:1923 disorder of sexual development ISO RGD:1344010 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 32728206 PROP1 PROP paired-like homeobox 1 gene DOID:1924 hypogonadism ISO RGD:1344010 D RGD:9068941 20230427 RGD DNA:point mutation:exon:W194X PMID:15941866|REF_RGD_ID:1601504 32728206 PROP1 PROP paired-like homeobox 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1344010 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 32728206 PROP1 PROP paired-like homeobox 1 gene DOID:630 genetic disease ISO RGD:1344010 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12519826|PMID:18157385|PMID:25741868|PMID:28492532 32728206 PROP1 PROP paired-like homeobox 1 gene DOID:9003666 Combined Pituitary Hormone Deficiency ISO RGD:1344010 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined PMID:15963055|PMID:18157385|PMID:25741868|PMID:26467025|PMID:27756091|PMID:28492532|PMID:9462743|PMID:9745452 32728206 PROP1 PROP paired-like homeobox 1 gene DOID:9008340 Combined Pituitary Hormone Deficiency, 2 ISO RGD:1344010 D RGD:7240710 20230505 OMIM 32728206 PROP1 PROP paired-like homeobox 1 gene DOID:9008340 Combined Pituitary Hormone Deficiency, 2 ISO RGD:1344010 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 2 PMID:10323394|PMID:10599689|PMID:10946881|PMID:11134108|PMID:11549674|PMID:11549703|PMID:12153609|PMID:12519826|PMID:12859410|PMID:14614227|PMID:15126542|PMID:15472232|PMID:15531542|PMID:15670191|PMID:15941866|PMID:15963055|PMID:16131601|PMID:16544023|PMID:16735499|PMID:16759034|PMID:16984240|PMID:17526936|PMID:17526949|PMID:18157385|PMID:19128366|PMID:20381582|PMID:20981092|PMID:21132537|PMID:21863341|PMID:22024773|PMID:22111336|PMID:23624138|PMID:24033266|PMID:25557026|PMID:25741868|PMID:26059845|PMID:26467025|PMID:26608600|PMID:26886902|PMID:27756091|PMID:28492532|PMID:28734020|PMID:30266296|PMID:32870266|PMID:9462743|PMID:9661653|PMID:9745452|PMID:9768691|PMID:9824293 32728206 PROP1 PROP paired-like homeobox 1 gene DOID:9406 hypopituitarism ISO RGD:1344010 D RGD:9068941 20230427 RGD combined pituitary hormone deficiency,OMIM:262600;DNA:point mutation:exon:R120C PMID:9768691|REF_RGD_ID:1601503 32728206 PROP1 PROP paired-like homeobox 1 gene DOID:9406 hypopituitarism ISO RGD:733046 D RGD:9068941 20230427 MouseDO OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 32728206 PROP1 PROP paired-like homeobox 1 gene DOID:9410 panhypopituitarism ISO RGD:1344010 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Panhypopituitarism | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined PMID:11549674|PMID:15126542|PMID:15472232|PMID:15963055|PMID:16735499|PMID:17526936|PMID:18157385|PMID:21863341|PMID:22024773|PMID:25741868|PMID:26059845|PMID:26467025|PMID:26608600|PMID:26886902|PMID:27756091|PMID:28492532|PMID:28734020|PMID:30266296|PMID:9462743|PMID:9745452|PMID:9768691 32728211 IFITM5 interferon induced transmembrane protein 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606092 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 32728211 IFITM5 interferon induced transmembrane protein 5 gene DOID:0110344 osteogenesis imperfecta type 5 ISO RGD:1606092 D RGD:7240710 20230420 OMIM 32728211 IFITM5 interferon induced transmembrane protein 5 gene DOID:0110344 osteogenesis imperfecta type 5 ISO RGD:1606092 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 5 PMID:22863190|PMID:22863195|PMID:23977282|PMID:24478195|PMID:24519609|PMID:25251575|PMID:25741868|PMID:28492532|PMID:29595812|PMID:30985308|PMID:31099171|PMID:31159867|PMID:32383316|PMID:34567078 32728211 IFITM5 interferon induced transmembrane protein 5 gene DOID:0111969 immunodeficiency 39 ISO RGD:1606092 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 32728211 IFITM5 interferon induced transmembrane protein 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606092 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 32728211 IFITM5 interferon induced transmembrane protein 5 gene DOID:12347 osteogenesis imperfecta ISO RGD:1606092 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:22863190|PMID:22863195|PMID:23977282|PMID:25251575|PMID:25741868|PMID:28492532|PMID:31099171|PMID:31159867|PMID:32383316 32728211 IFITM5 interferon induced transmembrane protein 5 gene DOID:630 genetic disease ISO RGD:1606092 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 32728211 IFITM5 interferon induced transmembrane protein 5 gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:1606092 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Postmenopausal osteoporosis PMID:22863190|PMID:22863195|PMID:23977282|PMID:25251575|PMID:25741868|PMID:28492532|PMID:31099171|PMID:31159867|PMID:32383316 32728223 FOXD1 forkhead box D1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1343882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 32728223 FOXD1 forkhead box D1 gene DOID:630 genetic disease ISO RGD:1343882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728223 FOXD1 forkhead box D1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 32728235 KCNG2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1319904 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 32728235 KCNG2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1319904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 32728235 KCNG2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:1059 intellectual disability ISO RGD:1319904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disability with severe speech impairment PMID:25741868 32728235 KCNG2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:630 genetic disease ISO RGD:1319904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728235 KCNG2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:6420 pulmonary valve stenosis ISO RGD:1319904 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 32728235 KCNG2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:8445 intestinal volvulus ISO RGD:1319904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 32728235 KCNG2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1319904 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 32728235 KCNG2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 32728235 KCNG2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1319904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 32728236 DEFB136 defensin beta 136 gene DOID:14004 thoracic aortic aneurysm ISO RGD:2307453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm PMID:32748548 32728236 DEFB136 defensin beta 136 gene DOID:630 genetic disease ISO RGD:2307453 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728236 DEFB136 defensin beta 136 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2307453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 32728253 SULT1A3 sulfotransferase family 1A member 3 gene DOID:0060019 coronin-1A deficiency ISO RGD:1347398 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION PMID:28492532 32728253 SULT1A3 sulfotransferase family 1A member 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1347398 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 32728253 SULT1A3 sulfotransferase family 1A member 3 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1347398 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 32728253 SULT1A3 sulfotransferase family 1A member 3 gene DOID:12849 autistic disorder ISO RGD:1347398 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32728253 SULT1A3 sulfotransferase family 1A member 3 gene DOID:5419 schizophrenia ISO RGD:1347398 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 32728253 SULT1A3 sulfotransferase family 1A member 3 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1347398 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 32728254 CCDC144A coiled-coil domain containing 144A gene DOID:12849 autistic disorder ISO RGD:1626599 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32728254 CCDC144A coiled-coil domain containing 144A gene DOID:630 genetic disease ISO RGD:1626599 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728258 ANKRD30A ankyrin repeat domain 30A gene DOID:630 genetic disease ISO RGD:1350593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728258 ANKRD30A ankyrin repeat domain 30A gene DOID:9008952 Breast Cancer, Familial ISO RGD:1350593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 32728275 IER5L immediate early response 5 like gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1349464 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 32728275 IER5L immediate early response 5 like gene DOID:630 genetic disease ISO RGD:1349464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728366 FGF7 fibroblast growth factor 7 gene DOID:10283 prostate cancer ISO RGD:69203 D RGD:9068941 20200702 RGD mRNA:increased expression:prostate gland stroma, hormone insensitive tumors PMID:9285567|REF_RGD_ID:2289086 32728366 FGF7 fibroblast growth factor 7 gene DOID:11132 prostatic hypertrophy ISO RGD:62097 D RGD:9068941 20230422 RGD PMID:9000125|REF_RGD_ID:2301094 32728366 FGF7 fibroblast growth factor 7 gene DOID:11132 prostatic hypertrophy ISO RGD:69203 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:14999240 32728366 FGF7 fibroblast growth factor 7 gene DOID:11132 prostatic hypertrophy ISO RGD:69203 D RGD:9068941 20200702 RGD mRNA:increased expression:prostate PMID:11482780|REF_RGD_ID:2289085 32728366 FGF7 fibroblast growth factor 7 gene DOID:11132 prostatic hypertrophy no_association ISO RGD:69203 D RGD:9068941 20200702 RGD mRNA:decreased expression:prostate gland PMID:9285567|REF_RGD_ID:2289086 32728366 FGF7 fibroblast growth factor 7 gene DOID:127 leiomyoma ISO RGD:69203 D RGD:9068941 20200702 RGD PMID:18566572|REF_RGD_ID:2301090 32728366 FGF7 fibroblast growth factor 7 gene DOID:1749 squamous cell carcinoma ISO RGD:69203 D RGD:9068941 20200702 RGD cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells PMID:17306351|REF_RGD_ID:2289084 32728366 FGF7 fibroblast growth factor 7 gene DOID:2394 ovarian cancer ISO RGD:69203 D RGD:9068941 20200702 RGD protein:increased expression:ovary PMID:11000522|REF_RGD_ID:2289080 32728366 FGF7 fibroblast growth factor 7 gene DOID:2717 Bloom syndrome ISO RGD:69203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 32728366 FGF7 fibroblast growth factor 7 gene DOID:2871 endometrial carcinoma ISO RGD:69203 D RGD:9068941 20200702 RGD mRNA:decreased expression:endometrium PMID:9070494|REF_RGD_ID:2301091 32728366 FGF7 fibroblast growth factor 7 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:69203 D RGD:9068941 20200702 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 32728366 FGF7 fibroblast growth factor 7 gene DOID:3744 cervical squamous cell carcinoma ISO RGD:69203 D RGD:9068941 20200702 RGD cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells PMID:17306351|REF_RGD_ID:2289084 32728366 FGF7 fibroblast growth factor 7 gene DOID:3770 pulmonary fibrosis ISO RGD:69203 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:15677771 32728366 FGF7 fibroblast growth factor 7 gene DOID:5082 liver cirrhosis ISO RGD:69203 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:17692400 32728366 FGF7 fibroblast growth factor 7 gene DOID:630 genetic disease ISO RGD:69203 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728366 FGF7 fibroblast growth factor 7 gene DOID:674 cleft palate ISO RGD:69203 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 32728366 FGF7 fibroblast growth factor 7 gene DOID:8577 ulcerative colitis ISO RGD:69203 D RGD:9068941 20210604 RGD mRNA:increased expression:colon, lamina propria, myofibroblasts (human) PMID:9358773|REF_RGD_ID:126928145 32728366 FGF7 fibroblast growth factor 7 gene DOID:8778 Crohn's disease ISO RGD:69203 D RGD:9068941 20210604 RGD mRNA:increased expression:colon, ileum, myofibroblasts (human) PMID:9358773|REF_RGD_ID:126928145 32728366 FGF7 fibroblast growth factor 7 gene DOID:9000099 Experimental Colitis treatment ISO RGD:69203 D RGD:9068941 20210528 RGD human protein in mouse model PMID:10219846|REF_RGD_ID:126928136 32728366 FGF7 fibroblast growth factor 7 gene DOID:9000310 Lung Injury ISO RGD:69203 D RGD:9068941 20200702 CTD CTD Direct Evidence: therapeutic PMID:18385170 32728366 FGF7 fibroblast growth factor 7 gene DOID:9002221 Hyperplasia ISO RGD:62097 D RGD:9068941 20230422 RGD mRNA:increased expression:distal colon (mouse) PMID:10338516|REF_RGD_ID:126928149 32728366 FGF7 fibroblast growth factor 7 gene DOID:9003281 Spontaneous Abortions ISO RGD:69203 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 32728366 FGF7 fibroblast growth factor 7 gene DOID:9003491 Enterobacteriaceae Infections ISO RGD:62097 D RGD:9068941 20230422 RGD mRNA:increased expression:distal colon (mouse) PMID:10338516|REF_RGD_ID:126928149 32728366 FGF7 fibroblast growth factor 7 gene DOID:9004009 Reperfusion Injury ISO RGD:69203 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 32728366 FGF7 fibroblast growth factor 7 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:62097 D RGD:9068941 20230422 RGD PMID:9000125|REF_RGD_ID:2301094 32728366 FGF7 fibroblast growth factor 7 gene DOID:9006010 Gingival Hyperplasia ISO RGD:69203 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:11023675 32728366 FGF7 fibroblast growth factor 7 gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:69203 D RGD:9068941 20210528 RGD human protein in rat model PMID:11076810|REF_RGD_ID:126928130 32728366 FGF7 fibroblast growth factor 7 gene DOID:9256 colorectal cancer ISO RGD:69203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 32728366 FGF7 fibroblast growth factor 7 gene DOID:9296 cleft lip ISO RGD:69203 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 32728406 NPHS2 NPHS2 stomatin family member, podocin gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:736986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 32728406 NPHS2 NPHS2 stomatin family member, podocin gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:736986 D RGD:7240710 20200701 OMIM 32728406 NPHS2 NPHS2 stomatin family member, podocin gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:736986 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:10742096|PMID:11729243|PMID:11733557|PMID:11805166|PMID:11805168|PMID:11854170|PMID:12464671|PMID:12608558|PMID:12644922|PMID:12649741|PMID:12707396|PMID:12776285|PMID:14570703|PMID:14675423|PMID:14701729|PMID:14978175|PMID:15015071|PMID:15042551|PMID:15059485|PMID:1523708|PMID:15253708|PMID:15264208|PMID:15322893|PMID:15327385|PMID:15496146|PMID:15504144|PMID:15769810|PMID:15780077|PMID:15817495|PMID:15954915|PMID:15968559|PMID:16199547|PMID:16286890|PMID:16291839|PMID:16354237|PMID:16481888|PMID:16721582|PMID:16810518|PMID:16898497|PMID:16900088|PMID:17109732|PMID:17216259|PMID:17218332|PMID:17371932|PMID:17576681|PMID:17699384|PMID:17899208|PMID:17942957|PMID:18216321|PMID:18380020|PMID:18443213|PMID:18499321|PMID:18596732|PMID:18683072|PMID:18709391|PMID:18726620|PMID:18823551|PMID:19067903|PMID:19145239|PMID:19268410|PMID:19371226|PMID:19406966|PMID:19520069|PMID:19674119|PMID:19812541|PMID:19876656|PMID:20001346|PMID:20333530|PMID:20507940|PMID:20798252|PMID:20947785|PMID:21125408|PMID:21171529|PMID:21355056|PMID:21415313|PMID:21636722|PMID:21722858|PMID:22228437|PMID:22565185|PMID:22578956|PMID:22763815|PMID:23013956|PMID:23242530|PMID:23349334|PMID:23515051|PMID:23595123|PMID:23645318|PMID:23800802|PMID:24033266|PMID:24072147|PMID:24089165|PMID:24227627|PMID:24413855|PMID:24500309|PMID:24509478|PMID:24511133|PMID:24715228|PMID:24742477|PMID:24856380|PMID:24969201|PMID:25060053|PMID:25349199|PMID:25525159|PMID:25599733|PMID:25720465|PMID:25741868|PMID:25852895|PMID:25903641|PMID:26138234|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:26467726|PMID:26594346|PMID:26668027|PMID:26820844|PMID:27885584|PMID:28117080|PMID:28204945|PMID:28385484|PMID:28476686|PMID:28492532|PMID:28529802|PMID:28658201|PMID:28712774|PMID:28780565|PMID:29049388|PMID:29127259|PMID:29382718|PMID:29644057|PMID:29660491|PMID:29869118|PMID:29982877|PMID:30013592|PMID:30241959|PMID:30260545|PMID:30295827|PMID:30348286|PMID:30406062|PMID:30450462|PMID:30609409|PMID:30655312|PMID:30721404|PMID:31027891|PMID:31308032|PMID:31738409|PMID:32129207|PMID:32467597|PMID:32581362|PMID:32604935|PMID:33193607|PMID:33532864|PMID:34405919|PMID:34853150|PMID:8589695|PMID:8606597|PMID:9536098 32728406 NPHS2 NPHS2 stomatin family member, podocin gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:736986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic nephrotic syndrome PMID:10742096|PMID:11729243|PMID:11805166|PMID:11805168|PMID:12464671|PMID:12644922|PMID:12707396|PMID:14570703|PMID:14675423|PMID:14701729|PMID:14978175|PMID:15253708|PMID:15264208|PMID:15496146|PMID:15769810|PMID:16291839|PMID:16354237|PMID:16721582|PMID:16810518|PMID:16898497|PMID:17109732|PMID:17899208|PMID:18216321|PMID:18823551|PMID:19145239|PMID:19406966|PMID:19876656|PMID:20798252|PMID:20947785|PMID:21355056|PMID:21415313|PMID:23349334|PMID:23515051|PMID:23595123|PMID:23645318|PMID:24033266|PMID:24072147|PMID:24227627|PMID:24509478|PMID:24742477|PMID:25349199|PMID:25525159|PMID:25741868|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:26467726|PMID:28492532|PMID:28658201|PMID:28780565|PMID:29382718|PMID:29644057|PMID:29660491|PMID:29982877|PMID:30013592|PMID:30609409|PMID:32129207|PMID:32604935|PMID:33532864|PMID:8589695 32728406 NPHS2 NPHS2 stomatin family member, podocin gene DOID:10976 membranous glomerulonephritis ISO RGD:620461 D RGD:9068941 20200702 RGD PMID:15882266|REF_RGD_ID:1598706 32728406 NPHS2 NPHS2 stomatin family member, podocin gene DOID:1184 nephrotic syndrome ISO RGD:736986 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome PMID:10742096|PMID:11729243|PMID:11805166|PMID:11854170|PMID:12464671|PMID:12649741|PMID:12707396|PMID:14570703|PMID:14675423|PMID:14701729|PMID:14978175|PMID:15042551|PMID:15059485|PMID:15253708|PMID:15322893|PMID:15327385|PMID:15954915|PMID:16481888|PMID:16810518|PMID:16900088|PMID:17371932|PMID:17899208|PMID:17942957|PMID:18216321|PMID:18443213|PMID:18499321|PMID:18823551|PMID:19067903|PMID:19145239|PMID:19268410|PMID:19371226|PMID:19406966|PMID:19520069|PMID:19674119|PMID:20507940|PMID:20798252|PMID:20947785|PMID:21171529|PMID:21355056|PMID:21415313|PMID:21722858|PMID:22228437|PMID:22578956|PMID:22763815|PMID:23013956|PMID:23242530|PMID:23349334|PMID:23515051|PMID:23595123|PMID:23645318|PMID:23800802|PMID:24089165|PMID:24227627|PMID:24500309|PMID:24509478|PMID:24715228|PMID:24742477|PMID:24856380|PMID:24969201|PMID:25349199|PMID:25599733|PMID:25741868|PMID:25852895|PMID:26138234|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:26467726|PMID:28385484|PMID:28492532|PMID:28529802|PMID:28780565|PMID:29049388|PMID:29127259|PMID:29382718|PMID:29644057|PMID:29660491|PMID:29869118|PMID:29982877|PMID:30241959|PMID:30260545|PMID:30348286|PMID:30655312|PMID:31027891|PMID:31738409|PMID:32129207|PMID:32467597|PMID:32581362|PMID:33193607|PMID:33532864|PMID:34405919|PMID:34853150|PMID:8589695 32728406 NPHS2 NPHS2 stomatin family member, podocin gene DOID:1184 nephrotic syndrome treatment ISO RGD:620461 D RGD:9068941 20200702 RGD PMID:15942045|REF_RGD_ID:1598707 32728406 NPHS2 NPHS2 stomatin family member, podocin gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:736986 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:10742096|PMID:11805166|PMID:11805168|PMID:11854170|PMID:12464671|PMID:12644922|PMID:12707396|PMID:12776285|PMID:14570703|PMID:14675423|PMID:14701729|PMID:14978175|PMID:15042551|PMID:1523708|PMID:15253708|PMID:15264208|PMID:15327385|PMID:15496146|PMID:15769810|PMID:15954915|PMID:15968559|PMID:16286890|PMID:16291839|PMID:16481888|PMID:16810518|PMID:16900088|PMID:17109732|PMID:17371932|PMID:17899208|PMID:17942957|PMID:18216321|PMID:18499321|PMID:18683072|PMID:18823551|PMID:19145239|PMID:19268410|PMID:19406966|PMID:19520069|PMID:19812541|PMID:20333530|PMID:20798252|PMID:20947785|PMID:21355056|PMID:21415313|PMID:21636722|PMID:21722858|PMID:22228437|PMID:22578956|PMID:23242530|PMID:23349334|PMID:23515051|PMID:23595123|PMID:23645318|PMID:23800802|PMID:24072147|PMID:24227627|PMID:24509478|PMID:24715228|PMID:24742477|PMID:24969201|PMID:25349199|PMID:25525159|PMID:25599733|PMID:25741868|PMID:26138234|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:26467726|PMID:27885584|PMID:28492532|PMID:28529802|PMID:28658201|PMID:28712774|PMID:29869118|PMID:30241959|PMID:30260545|PMID:30348286|PMID:30655312|PMID:31027891|PMID:31738409|PMID:32129207|PMID:32467597|PMID:32581362|PMID:33193607|PMID:33532864|PMID:34405919|PMID:34853150|PMID:8589695 32728406 NPHS2 NPHS2 stomatin family member, podocin gene DOID:1540 parathyroid carcinoma ISO RGD:736986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 32728406 NPHS2 NPHS2 stomatin family member, podocin gene DOID:2527 nephrosis ISO RGD:736986 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:15684566 32728406 NPHS2 NPHS2 stomatin family member, podocin gene DOID:2590 familial nephrotic syndrome ISO RGD:736986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nephrotic syndrome PMID:15954915|PMID:25741868|PMID:26467025|PMID:28492532 32728406 NPHS2 NPHS2 stomatin family member, podocin gene DOID:557 kidney disease ISO RGD:736986 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:15954915|PMID:25741868|PMID:26467025|PMID:28492532 32728406 NPHS2 NPHS2 stomatin family member, podocin gene DOID:576 proteinuria ISO RGD:736986 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:11805166|PMID:11854170|PMID:12464671|PMID:14675423|PMID:14978175|PMID:15253708|PMID:15327385|PMID:15504144|PMID:15954915|PMID:16481888|PMID:16900088|PMID:17371932|PMID:17899208|PMID:17942957|PMID:18216321|PMID:18499321|PMID:18823551|PMID:19145239|PMID:19268410|PMID:19520069|PMID:20798252|PMID:20947785|PMID:21355056|PMID:21415313|PMID:21722858|PMID:22228437|PMID:22578956|PMID:23242530|PMID:23349334|PMID:23645318|PMID:23800802|PMID:24227627|PMID:24509478|PMID:24715228|PMID:24969201|PMID:25599733|PMID:25741868|PMID:26138234|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:28492532|PMID:28529802|PMID:29869118|PMID:30241959|PMID:30260545|PMID:30348286|PMID:31027891|PMID:31738409|PMID:32129207|PMID:32467597|PMID:33193607|PMID:33532864|PMID:34405919|PMID:34853150 32728406 NPHS2 NPHS2 stomatin family member, podocin gene DOID:630 genetic disease ISO RGD:736986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728406 NPHS2 NPHS2 stomatin family member, podocin gene DOID:784 chronic kidney disease ISO RGD:736986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:10742096|PMID:11729243|PMID:11805166|PMID:11854170|PMID:12649741|PMID:14570703|PMID:14675423|PMID:14978175|PMID:15253708|PMID:15327385|PMID:17371932|PMID:17942957|PMID:18216321|PMID:18443213|PMID:18823551|PMID:19371226|PMID:19406966|PMID:20798252|PMID:20947785|PMID:21171529|PMID:21355056|PMID:21415313|PMID:23242530|PMID:24089165|PMID:24227627|PMID:24500309|PMID:24509478|PMID:24742477|PMID:24856380|PMID:25349199|PMID:25741868|PMID:25852895|PMID:26467025|PMID:28492532|PMID:28780565|PMID:29049388|PMID:29127259|PMID:29382718|PMID:29982877|PMID:30655312|PMID:32129207|PMID:32581362|PMID:8589695 32728406 NPHS2 NPHS2 stomatin family member, podocin gene DOID:9001542 Albuminuria ISO RGD:736986 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:15684566 32728406 NPHS2 NPHS2 stomatin family member, podocin gene DOID:9004797 Fetal Nutrition Disorders ISO RGD:620461 D RGD:9068941 20230202 RGD associated with maternal low protein diet; protein:decreased expression:kidney (rat) PMID:23977013|REF_RGD_ID:155882570 32728406 NPHS2 NPHS2 stomatin family member, podocin gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:736986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 32728406 NPHS2 NPHS2 stomatin family member, podocin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 32728424 TMIE transmembrane inner ear gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1343102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness PMID:12145746|PMID:19438934|PMID:25741868|PMID:30303587|PMID:30311386|PMID:8593615 32728424 TMIE transmembrane inner ear gene DOID:0110512 autosomal recessive nonsyndromic deafness 6 ISO RGD:1343102 D RGD:7240710 20200701 OMIM 32728424 TMIE transmembrane inner ear gene DOID:0110512 autosomal recessive nonsyndromic deafness 6 ISO RGD:1343102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 6 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 6 PMID:12145746|PMID:16389551|PMID:19438934|PMID:24033266|PMID:24416283|PMID:24875298|PMID:25741868|PMID:28492532|PMID:30303587|PMID:30311386|PMID:35710363|PMID:8593615 32728424 TMIE transmembrane inner ear gene DOID:10003 sensorineural hearing loss ISO RGD:1343102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:12145746|PMID:19438934|PMID:25741868|PMID:30303587|PMID:30311386|PMID:8593615 32728424 TMIE transmembrane inner ear gene DOID:630 genetic disease ISO RGD:1343102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 32728424 TMIE transmembrane inner ear gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1343102 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 32728424 TMIE transmembrane inner ear gene DOID:9004538 Hearing Loss ISO RGD:1343102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:12145746|PMID:19438934|PMID:25741868|PMID:30303587|PMID:30311386|PMID:8593615 32728424 TMIE transmembrane inner ear gene DOID:9004538 Hearing Loss ISO RGD:1343102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:12145746|PMID:19438934|PMID:25741868|PMID:28492532|PMID:30303587|PMID:30311386|PMID:8593615 32728437 LOC117974668 arf-GAP with GTPase, ANK repeat and PH domain-containing protein 5 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:2301267 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 32728437 LOC117974668 arf-GAP with GTPase, ANK repeat and PH domain-containing protein 5 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:2301267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 32728437 LOC117974668 arf-GAP with GTPase, ANK repeat and PH domain-containing protein 5 gene DOID:630 genetic disease ISO RGD:2301267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728441 SCGB2B2 secretoglobin family 2B member 2 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1604182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 32728441 SCGB2B2 secretoglobin family 2B member 2 gene DOID:630 genetic disease ISO RGD:1604182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728449 PHLDA2 pleckstrin homology like domain family A member 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 32728449 PHLDA2 pleckstrin homology like domain family A member 2 gene DOID:0080600 COVID-19 ISO RGD:1312382 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 32728449 PHLDA2 pleckstrin homology like domain family A member 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1312382 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 32728449 PHLDA2 pleckstrin homology like domain family A member 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 32728449 PHLDA2 pleckstrin homology like domain family A member 2 gene DOID:3347 osteosarcoma ISO RGD:1312382 D RGD:9068941 20200702 CTD CTD Direct Evidence: therapeutic PMID:22021909 32728449 PHLDA2 pleckstrin homology like domain family A member 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1312382 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 32728449 PHLDA2 pleckstrin homology like domain family A member 2 gene DOID:630 genetic disease ISO RGD:1312382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728462 TRIM51 tripartite motif-containing 51 gene DOID:1059 intellectual disability ISO RGD:1350301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 32728462 TRIM51 tripartite motif-containing 51 gene DOID:630 genetic disease ISO RGD:1350301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728476 LORICRIN loricrin cornified envelope precursor protein gene DOID:0111664 ectodermal dysplasia 1 ISO RGD:1347914 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia PMID:25741868 32728476 LORICRIN loricrin cornified envelope precursor protein gene DOID:0111940 immunodeficiency 42 ISO RGD:1347914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 32728476 LORICRIN loricrin cornified envelope precursor protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1347914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 32728476 LORICRIN loricrin cornified envelope precursor protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1347914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 32728476 LORICRIN loricrin cornified envelope precursor protein gene DOID:1540 parathyroid carcinoma ISO RGD:1347914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 32728476 LORICRIN loricrin cornified envelope precursor protein gene DOID:1749 squamous cell carcinoma ISO RGD:1347914 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 32728476 LORICRIN loricrin cornified envelope precursor protein gene DOID:5812 MHC class II deficiency ISO RGD:1347914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 32728476 LORICRIN loricrin cornified envelope precursor protein gene DOID:630 genetic disease ISO RGD:1347914 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728476 LORICRIN loricrin cornified envelope precursor protein gene DOID:9001125 Vohwinkel Syndrome, Variant Form ISO RGD:1347914 D RGD:7240710 20200701 OMIM 32728476 LORICRIN loricrin cornified envelope precursor protein gene DOID:9001125 Vohwinkel Syndrome, Variant Form ISO RGD:1347914 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Loricrin keratoderma PMID:10798362|PMID:11038186|PMID:11121146|PMID:11703298|PMID:25741868|PMID:31595526|PMID:8673107|PMID:9326323|PMID:9326398 32728476 LORICRIN loricrin cornified envelope precursor protein gene DOID:9004464 Skin Neoplasms ISO RGD:1347914 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 32728476 LORICRIN loricrin cornified envelope precursor protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 32728497 LOC117975683 uncharacterized protein CFAP97D2 gene DOID:2222 factor X deficiency ISO RGD:13463569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 32728501 SPTSSA serine palmitoyltransferase small subunit A gene DOID:630 genetic disease ISO RGD:1350858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728501 SPTSSA serine palmitoyltransferase small subunit A gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1350858 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 32728505 UBE2QL1 ubiquitin conjugating enzyme E2 Q family like 1 gene DOID:630 genetic disease ISO RGD:2798685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728509 BMP8B bone morphogenetic protein 8b gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1353706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 32728509 BMP8B bone morphogenetic protein 8b gene DOID:630 genetic disease ISO RGD:1353706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728515 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:0060041 autism spectrum disorder ISO RGD:1343811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 32728515 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1343811 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 32728515 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1343811 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 32728515 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:10283 prostate cancer ISO RGD:1343811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 32728515 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:1059 intellectual disability ISO RGD:1343811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 32728515 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:11198 DiGeorge syndrome ISO RGD:1343811 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 32728515 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:11372 megacolon ISO RGD:1343811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 32728515 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:12583 velocardiofacial syndrome ISO RGD:1343811 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 32728515 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:12849 autistic disorder ISO RGD:1343811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32728515 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:1826 epilepsy ISO RGD:1343811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 32728515 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:2213 hemorrhagic disease ISO RGD:1343811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 32728515 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:5419 schizophrenia ISO RGD:1343811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 32728515 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:612 primary immunodeficiency disease ISO RGD:1343811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 32728515 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:630 genetic disease ISO RGD:1343811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728515 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:9003871 Venous Thrombosis ISO RGD:1343811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 32728515 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 32728515 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:9007661 Dwarfism ISO RGD:1343811 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 32728538 FAM240C family with sequence similarity 240 member C gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:15037051 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 32728550 PRAMEF12 PRAME family member 12 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604432 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 32728550 PRAMEF12 PRAME family member 12 gene DOID:630 genetic disease ISO RGD:1604432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728563 ID4 inhibitor of DNA binding 4 gene DOID:11476 osteoporosis ISO RGD:1550640 D RGD:9068941 20220825 MouseDO OMIM:166710 32728563 ID4 inhibitor of DNA binding 4 gene DOID:13580 cholestasis ISO RGD:736051 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 32728563 ID4 inhibitor of DNA binding 4 gene DOID:305 carcinoma ISO RGD:736051 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:14633621 32728563 ID4 inhibitor of DNA binding 4 gene DOID:630 genetic disease ISO RGD:736051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728563 ID4 inhibitor of DNA binding 4 gene DOID:9000217 Stomach Neoplasms ISO RGD:736051 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 32728563 ID4 inhibitor of DNA binding 4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736051 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:14633621 32728563 ID4 inhibitor of DNA binding 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736051 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 32728563 ID4 inhibitor of DNA binding 4 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736051 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:14633621 32728563 ID4 inhibitor of DNA binding 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736051 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:14633621 32728576 C12H12orf75 chromosome 12 C12orf75 homolog gene DOID:630 genetic disease ISO RGD:2303668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728614 LOC117976695 keratin-associated protein 4-4 gene DOID:630 genetic disease ISO RGD:1347393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728626 RAB32 RAB32, member RAS oncogene family gene DOID:1024 leprosy ISO RGD:1345972 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:22019778 32728626 RAB32 RAB32, member RAS oncogene family gene DOID:14261 fragile X syndrome ISO RGD:1345972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fragile X syndrome 32728626 RAB32 RAB32, member RAS oncogene family gene DOID:3042 allergic contact dermatitis ISO RGD:1345972 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 32728626 RAB32 RAB32, member RAS oncogene family gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1345972 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 32728626 RAB32 RAB32, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1345972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728626 RAB32 RAB32, member RAS oncogene family gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345972 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 32728654 RABL2B RAB, member of RAS oncogene family like 2B gene DOID:0060041 autism spectrum disorder ISO RGD:1353591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984749|PMID:21984750|PMID:25255310 32728654 RABL2B RAB, member of RAS oncogene family like 2B gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1353591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 32728654 RABL2B RAB, member of RAS oncogene family like 2B gene DOID:1059 intellectual disability ISO RGD:1353591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31690835 32728654 RABL2B RAB, member of RAS oncogene family like 2B gene DOID:630 genetic disease ISO RGD:1353591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728677 LOC117976296 serine/threonine-protein kinase SMG1 gene DOID:0060041 autism spectrum disorder ISO RGD:13513861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 32728677 LOC117976296 serine/threonine-protein kinase SMG1 gene DOID:12849 autistic disorder ISO RGD:13513861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32728689 NALF2 NALCN channel auxiliary factor 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 32728689 NALF2 NALCN channel auxiliary factor 2 gene DOID:12849 autistic disorder ISO RGD:1350785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32728689 NALF2 NALCN channel auxiliary factor 2 gene DOID:630 genetic disease ISO RGD:1350785 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728721 LOC117974918 upstream-binding factor 1-like protein 1 gene DOID:1059 intellectual disability ISO RGD:1312367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 32728721 LOC117974918 upstream-binding factor 1-like protein 1 gene DOID:630 genetic disease ISO RGD:1312367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728721 LOC117974918 upstream-binding factor 1-like protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 32728722 C2CD4D C2 calcium dependent domain containing 4D gene DOID:0111940 immunodeficiency 42 ISO RGD:3563711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 32728722 C2CD4D C2 calcium dependent domain containing 4D gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:3563711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 32728722 C2CD4D C2 calcium dependent domain containing 4D gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:3563711 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 32728722 C2CD4D C2 calcium dependent domain containing 4D gene DOID:1540 parathyroid carcinoma ISO RGD:3563711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 32728722 C2CD4D C2 calcium dependent domain containing 4D gene DOID:5812 MHC class II deficiency ISO RGD:3563711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 32728722 C2CD4D C2 calcium dependent domain containing 4D gene DOID:630 genetic disease ISO RGD:3563711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728722 C2CD4D C2 calcium dependent domain containing 4D gene DOID:9253 gastrointestinal stromal tumor ISO RGD:3563711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 32728742 MAGEA2B MAGE family member A2B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 32728742 MAGEA2B MAGE family member A2B gene DOID:12849 autistic disorder ISO RGD:1349621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32728767 F8A1 coagulation factor VIII associated 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1342562 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 32728767 F8A1 coagulation factor VIII associated 1 gene DOID:0050476 Barth syndrome ISO RGD:1342562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 32728767 F8A1 coagulation factor VIII associated 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:1342562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 32728767 F8A1 coagulation factor VIII associated 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1342562 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 32728767 F8A1 coagulation factor VIII associated 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1342562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 32728767 F8A1 coagulation factor VIII associated 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1342562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 32728767 F8A1 coagulation factor VIII associated 1 gene DOID:12134 factor VIII deficiency ISO RGD:1342562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Factor VIII deficiency, congenital PMID:2105106 32728767 F8A1 coagulation factor VIII associated 1 gene DOID:12849 autistic disorder ISO RGD:1342562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32728767 F8A1 coagulation factor VIII associated 1 gene DOID:13628 favism ISO RGD:1342562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 32728767 F8A1 coagulation factor VIII associated 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1342562 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 32728767 F8A1 coagulation factor VIII associated 1 gene DOID:607 paraplegia ISO RGD:1342562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 32728767 F8A1 coagulation factor VIII associated 1 gene DOID:630 genetic disease ISO RGD:1342562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728767 F8A1 coagulation factor VIII associated 1 gene DOID:9002720 Splenomegaly ISO RGD:1342562 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 32728782 CEBPD CCAAT enhancer binding protein delta gene DOID:5394 prolactinoma ISO RGD:736554 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:21980073 32728782 CEBPD CCAAT enhancer binding protein delta gene DOID:630 genetic disease ISO RGD:736554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728782 CEBPD CCAAT enhancer binding protein delta gene DOID:684 hepatocellular carcinoma ISO RGD:736554 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:14563831 32728782 CEBPD CCAAT enhancer binding protein delta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736554 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 32728782 CEBPD CCAAT enhancer binding protein delta gene DOID:9004484 Sepsis ISO RGD:2328 D RGD:9068941 20200702 RGD protein:increased expression:skeletal muscle PMID:11792653|REF_RGD_ID:625506 32728782 CEBPD CCAAT enhancer binding protein delta gene DOID:9007102 Myocardial Ischemia ISO RGD:736554 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 32728782 CEBPD CCAAT enhancer binding protein delta gene DOID:9119 acute myeloid leukemia ISO RGD:736554 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:17234736 32728805 DLX6 distal-less homeobox 6 gene DOID:0090021 split hand-foot malformation 1 ISO RGD:1557991 D RGD:9068941 20220825 MouseDO OMIM:183600 32728805 DLX6 distal-less homeobox 6 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:12322400 D RGD:9068941 20230511 OMIA Cleft palate 1, DLX6-related PMID:24699068|PMID:28738009|PMID:28887848|PMID:34838248 32728805 DLX6 distal-less homeobox 6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 32728805 DLX6 distal-less homeobox 6 gene DOID:630 genetic disease ISO RGD:1347834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728805 DLX6 distal-less homeobox 6 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1347834 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:14666512 32728816 PSG9 pregnancy specific beta-1-glycoprotein 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1349601 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 32728816 PSG9 pregnancy specific beta-1-glycoprotein 9 gene DOID:5419 schizophrenia ISO RGD:1349601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 32728816 PSG9 pregnancy specific beta-1-glycoprotein 9 gene DOID:630 genetic disease ISO RGD:1349601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728867 STEAP1B STEAP family member 1B gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:36174150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 32728867 STEAP1B STEAP family member 1B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:36174150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 32728867 STEAP1B STEAP family member 1B gene DOID:630 genetic disease ISO RGD:36174150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728867 STEAP1B STEAP family member 1B gene DOID:9562 primary ciliary dyskinesia ISO RGD:36174150 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 32728868 PDCD1 programmed cell death 1 gene DOID:0080159 cryptococcal meningitis treatment ISO RGD:1323231 D RGD:9068941 20230504 RGD PMID:29058791|REF_RGD_ID:41412178 32728868 PDCD1 programmed cell death 1 gene DOID:0080162 lupus nephritis ISO RGD:1323231 D RGD:9068941 20230504 RGD DNA:polymorphism: : PMID:15934088|REF_RGD_ID:7248675 32728868 PDCD1 programmed cell death 1 gene DOID:0080162 lupus nephritis ISO RGD:1323231 D RGD:9068941 20230504 RGD DNA:polymorphism:intron:6867 C>T (human) PMID:15352422|REF_RGD_ID:7248676 32728868 PDCD1 programmed cell death 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1323231 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 32728868 PDCD1 programmed cell death 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1323231 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 32728868 PDCD1 programmed cell death 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1323231 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 32728868 PDCD1 programmed cell death 1 gene DOID:10534 stomach cancer ISO RGD:1323231 D RGD:9068941 20230504 RGD associated with Epstein-Barr Virus Infections PMID:27465786|REF_RGD_ID:41410790 32728868 PDCD1 programmed cell death 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1323231 D RGD:9068941 20230504 RGD PMID:32380498|REF_RGD_ID:40818238 32728868 PDCD1 programmed cell death 1 gene DOID:1059 intellectual disability ISO RGD:1323231 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability 32728868 PDCD1 programmed cell death 1 gene DOID:10591 pre-eclampsia ISO RGD:1323231 D RGD:9068941 20230504 RGD protein:increased expression:Treg cell PMID:27277012|REF_RGD_ID:40886269 32728868 PDCD1 programmed cell death 1 gene DOID:11168 anogenital venereal wart ISO RGD:1323231 D RGD:9068941 20230504 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 32728868 PDCD1 programmed cell death 1 gene DOID:12361 Graves' disease ISO RGD:1323231 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 32728868 PDCD1 programmed cell death 1 gene DOID:12549 hepatitis A disease_progression ISO RGD:1323231 D RGD:9068941 20230504 RGD PMID:26347518|REF_RGD_ID:40818419 32728868 PDCD1 programmed cell death 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1323231 D RGD:9068941 20230504 RGD protein:increased expression: CD8 Tcell from nasal wash: PMID:25465101|REF_RGD_ID:11056952 32728868 PDCD1 programmed cell death 1 gene DOID:14115 toxic shock syndrome ISO RGD:1323231 D RGD:9068941 20230504 RGD protein:increased expression:serum PMID:29702526|REF_RGD_ID:40822808 32728868 PDCD1 programmed cell death 1 gene DOID:14115 toxic shock syndrome severity ISO RGD:1323231 D RGD:9068941 20230504 RGD protein:increased expression:lymphocyte, mononcyte PMID:26063974|REF_RGD_ID:41410786 32728868 PDCD1 programmed cell death 1 gene DOID:1883 hepatitis C disease_progression ISO RGD:1323231 D RGD:9068941 20230504 RGD DNA:SNP:3' UTR:rs10204525(human) PMID:25747035|REF_RGD_ID:11052797 32728868 PDCD1 programmed cell death 1 gene DOID:1909 melanoma ISO RGD:1323231 D RGD:9068941 20230504 CTD CTD Direct Evidence: therapeutic PMID:21802280 32728868 PDCD1 programmed cell death 1 gene DOID:2043 hepatitis B disease_progression ISO RGD:1323231 D RGD:9068941 20230504 RGD PMID:31770816|REF_RGD_ID:40818272 32728868 PDCD1 programmed cell death 1 gene DOID:2043 hepatitis B disease_progression ISO RGD:1323231 D RGD:9068941 20230504 RGD DNA:SNPs,halptype: :rs36084323, rs2227981,rs2227982(human) PMID:28667037|REF_RGD_ID:40818414 32728868 PDCD1 programmed cell death 1 gene DOID:2043 hepatitis B susceptibility ISO RGD:1323231 D RGD:9068941 20230504 RGD DNA:SNP: :rs2227981(human) PMID:29786123|REF_RGD_ID:40818423 32728868 PDCD1 programmed cell death 1 gene DOID:2048 autoimmune hepatitis ISO RGD:1323231 D RGD:9068941 20230504 RGD PMID:23869988|REF_RGD_ID:40818236 32728868 PDCD1 programmed cell death 1 gene DOID:2237 hepatitis ISO RGD:1323231 D RGD:9068941 20230504 RGD protein:increased expression: leukocyte PMID:19739236|REF_RGD_ID:40818425 32728868 PDCD1 programmed cell death 1 gene DOID:2377 multiple sclerosis ISO RGD:1323231 D RGD:7240710 20230510 OMIM 32728868 PDCD1 programmed cell death 1 gene DOID:2377 multiple sclerosis ISO RGD:1323231 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Multiple sclerosis modifier of disease progression PMID:12402038|PMID:15912506 32728868 PDCD1 programmed cell death 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:1323231 D RGD:9068941 20230504 RGD protein:increased expression:Tcell, B cell, monocyte PMID:23661793|REF_RGD_ID:40818418 32728868 PDCD1 programmed cell death 1 gene DOID:2957 pulmonary tuberculosis treatment ISO RGD:1323231 D RGD:9068941 20230504 RGD PMID:23661793|REF_RGD_ID:40818418 32728868 PDCD1 programmed cell death 1 gene DOID:399 tuberculosis treatment ISO RGD:1323231 D RGD:9068941 20230504 RGD PMID:27865385|REF_RGD_ID:41412174 32728868 PDCD1 programmed cell death 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1323231 D RGD:9068941 20230504 RGD PMID:17363529|REF_RGD_ID:7248680 32728868 PDCD1 programmed cell death 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1323231 D RGD:9068941 20230504 RGD PMID:30161254|REF_RGD_ID:41412179 32728868 PDCD1 programmed cell death 1 gene DOID:630 genetic disease ISO RGD:1323231 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728868 PDCD1 programmed cell death 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1323231 D RGD:9068941 20230504 RGD associated with hepatitis B PMID:21912640|REF_RGD_ID:41410800 32728868 PDCD1 programmed cell death 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1323231 D RGD:9068941 20230504 RGD associated with hepatitis B;DNA:SNP: : +8669 A>G (human) PMID:27034168|REF_RGD_ID:40818257 32728868 PDCD1 programmed cell death 1 gene DOID:8991 cervix uteri carcinoma in situ severity ISO RGD:1323231 D RGD:9068941 20230504 RGD associated with Papillomavirus Infections; protein:increased expression:T cell PMID:23521696|REF_RGD_ID:40822817 32728868 PDCD1 programmed cell death 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1323231 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 32728868 PDCD1 programmed cell death 1 gene DOID:9002433 Schistosomiasis Japonica ISO RGD:1323231 D RGD:9068941 20230504 RGD protein:increased expression:CD4 T cell PMID:27792733|REF_RGD_ID:40818413 32728868 PDCD1 programmed cell death 1 gene DOID:9002780 Recurrent Respiratory Papillomatosis ISO RGD:1323231 D RGD:9068941 20230504 RGD PMID:22322668|REF_RGD_ID:40822813 32728868 PDCD1 programmed cell death 1 gene DOID:9004283 Transplant Rejection severity ISO RGD:1323231 D RGD:9068941 20230504 RGD mRNA:increased expression:leukocytes, Mononuclear: PMID:21518556|REF_RGD_ID:7248673 32728868 PDCD1 programmed cell death 1 gene DOID:9004484 Sepsis ISO RGD:1323231 D RGD:9068941 20230504 RGD protein:increased expression:B cell,CD4T cell PMID:29661225|REF_RGD_ID:40818424 32728868 PDCD1 programmed cell death 1 gene DOID:9004484 Sepsis ISO RGD:1323231 D RGD:9068941 20230504 RGD protein:increased expression:T cell PMID:30595665|REF_RGD_ID:40818235 32728868 PDCD1 programmed cell death 1 gene DOID:9004484 Sepsis disease_progression ISO RGD:1323231 D RGD:9068941 20230504 RGD PMID:29702526|REF_RGD_ID:40822808 32728868 PDCD1 programmed cell death 1 gene DOID:9004484 Sepsis disease_progression ISO RGD:1323231 D RGD:9068941 20230504 RGD protein:increased expression:T cell PMID:27156867|REF_RGD_ID:41412183 32728868 PDCD1 programmed cell death 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1323231 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:34166680 32728868 PDCD1 programmed cell death 1 gene DOID:9006262 Cytomegalovirus Infections susceptibility ISO RGD:1323231 D RGD:9068941 20230504 RGD associated with kidney transplantation; DNA:SNP: :rs11568821(human) PMID:19581275|REF_RGD_ID:40818426 32728868 PDCD1 programmed cell death 1 gene DOID:9008114 Helicobacter Infections severity ISO RGD:1323231 D RGD:9068941 20230504 RGD PMID:21562113|REF_RGD_ID:40818417 32728868 PDCD1 programmed cell death 1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1323231 D RGD:9068941 20230504 RGD DNA:SNP:exon: PMID:20700634|REF_RGD_ID:40818262 32728868 PDCD1 programmed cell death 1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1323231 D RGD:9068941 20230504 RGD mRNA:increased expression:liver parenchyma (human) PMID:22634051|REF_RGD_ID:36947881 32728868 PDCD1 programmed cell death 1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1323231 D RGD:9068941 20230504 RGD protein:altered expression:serum: PMID:28983583|REF_RGD_ID:40818415 32728868 PDCD1 programmed cell death 1 gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:1323231 D RGD:9068941 20230504 RGD DNA:SNP:3' UTR:rs10204525(human) PMID:30016557|REF_RGD_ID:40818231 32728868 PDCD1 programmed cell death 1 gene DOID:9008163 Chronic Hepatitis B no_association ISO RGD:1323231 D RGD:9068941 20230504 RGD DNA:SNPs::+7146 G>A,+7209 C>T(human) PMID:25736598|REF_RGD_ID:40818233 32728868 PDCD1 programmed cell death 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1323231 D RGD:7240710 20230510 OMIM 32728869 DEFB125 defensin beta 125 gene DOID:630 genetic disease ISO RGD:1342634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728881 FAM241A family with sequence similarity 241 member A gene DOID:12271 aniridia ISO RGD:1606723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 32728964 LOC117980871 putative oncomodulin-2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1625849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 32728964 LOC117980871 putative oncomodulin-2 gene DOID:630 genetic disease ISO RGD:1625849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728983 LOC117977363 keratin-associated protein 10-10 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1345335 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 32728983 LOC117977363 keratin-associated protein 10-10 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1345335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 32728983 LOC117977363 keratin-associated protein 10-10 gene DOID:0110266 cataract 9 multiple types ISO RGD:1345335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 32728983 LOC117977363 keratin-associated protein 10-10 gene DOID:12849 autistic disorder ISO RGD:1345335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32728983 LOC117977363 keratin-associated protein 10-10 gene DOID:630 genetic disease ISO RGD:1345335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32728983 LOC117977363 keratin-associated protein 10-10 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1345335 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 32728983 LOC117977363 keratin-associated protein 10-10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 32728983 LOC117977363 keratin-associated protein 10-10 gene DOID:9263 homocystinuria ISO RGD:1345335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 32728983 LOC117977363 keratin-associated protein 10-10 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1345335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 32729018 LOC117979511 programmed cell death protein 1 gene DOID:0040083 Chlamydia pneumonia ISO RGD:1323232 D RGD:9068941 20210219 RGD mRNA:increased expression:lung PMID:26378990|REF_RGD_ID:41412180 32729018 LOC117979511 programmed cell death protein 1 gene DOID:0040084 Streptococcus pneumonia treatment ISO RGD:1323232 D RGD:9068941 20201203 RGD PMID:25624454|REF_RGD_ID:40818422 32729018 LOC117979511 programmed cell death protein 1 gene DOID:0060081 triple-receptor negative breast cancer treatment ISO RGD:1323232 D RGD:9068941 20201117 RGD PMID:32194569|REF_RGD_ID:40818259 32729018 LOC117979511 programmed cell death protein 1 gene DOID:0080159 cryptococcal meningitis treatment ISO RGD:1323232 D RGD:9068941 20210219 RGD PMID:29058791|REF_RGD_ID:41412178 32729018 LOC117979511 programmed cell death protein 1 gene DOID:0080162 lupus nephritis onset ISO RGD:1323232 D RGD:9068941 20200702 RGD PMID:21041733|REF_RGD_ID:7248678 32729018 LOC117979511 programmed cell death protein 1 gene DOID:10591 pre-eclampsia treatment ISO RGD:1311658 D RGD:9068941 20201203 RGD PMID:27277012|REF_RGD_ID:40886269 32729018 LOC117979511 programmed cell death protein 1 gene DOID:11111 hydronephrosis ISO RGD:1332447 D RGD:9068941 20200702 RGD PMID:16352741|REF_RGD_ID:7248681 32729018 LOC117979511 programmed cell death protein 1 gene DOID:12155 lymphocytic choriomeningitis ISO RGD:1323232 D RGD:9068941 20210219 RGD PMID:23230000|REF_RGD_ID:41410802 32729018 LOC117979511 programmed cell death protein 1 gene DOID:12155 lymphocytic choriomeningitis treatment ISO RGD:1323232 D RGD:9068941 20201112 RGD PMID:30726291|REF_RGD_ID:40818232 32729018 LOC117979511 programmed cell death protein 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1323232 D RGD:9068941 20201112 RGD protein:increased expression:CD4 Tcell, CD8 Tcell from lung: PMID:25465101|REF_RGD_ID:11056952 32729018 LOC117979511 programmed cell death protein 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1323232 D RGD:9068941 20200702 RGD PMID:14595408|REF_RGD_ID:9589058 32729018 LOC117979511 programmed cell death protein 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1323232 D RGD:9068941 20220825 MouseDO 32729018 LOC117979511 programmed cell death protein 1 gene DOID:1679 cystitis ISO RGD:1323232 D RGD:9068941 20200702 RGD PMID:22432050|REF_RGD_ID:7248677 32729018 LOC117979511 programmed cell death protein 1 gene DOID:1731 histoplasmosis treatment ISO RGD:1323232 D RGD:9068941 20201203 RGD PMID:18268348|REF_RGD_ID:40822806 32729018 LOC117979511 programmed cell death protein 1 gene DOID:1909 melanoma treatment ISO RGD:1323232 D RGD:9068941 20201117 RGD associated with influenza PMID:27760326|REF_RGD_ID:40818261 32729018 LOC117979511 programmed cell death protein 1 gene DOID:2048 autoimmune hepatitis ISO RGD:1323232 D RGD:9068941 20210219 RGD PMID:19781375|REF_RGD_ID:41412171 32729018 LOC117979511 programmed cell death protein 1 gene DOID:2841 asthma treatment ISO RGD:1323232 D RGD:9068941 20210219 RGD associated with Chlamydia pneumonia PMID:26378990|REF_RGD_ID:41412180 32729018 LOC117979511 programmed cell death protein 1 gene DOID:3951 acute myocarditis severity ISO RGD:1323232 D RGD:9068941 20201203 RGD associated with Coxsackievirus Infections; PMID:17434153|REF_RGD_ID:40822819 32729018 LOC117979511 programmed cell death protein 1 gene DOID:3951 acute myocarditis treatment ISO RGD:1323232 D RGD:9068941 20201203 RGD associated with Coxsackievirus Infections; PMID:17434153|REF_RGD_ID:40822819 32729018 LOC117979511 programmed cell death protein 1 gene DOID:4780 anti-basement membrane glomerulonephritis treatment ISO RGD:1311658 D RGD:9068941 20200702 RGD PMID:21965585|REF_RGD_ID:7248671 32729018 LOC117979511 programmed cell death protein 1 gene DOID:646 viral encephalitis ISO RGD:1323232 D RGD:9068941 20201113 RGD protein:increased expression: CD8 T celll PMID:31105690|REF_RGD_ID:40818239 32729018 LOC117979511 programmed cell death protein 1 gene DOID:820 myocarditis ISO RGD:1323232 D RGD:9068941 20200702 RGD PMID:21357717|REF_RGD_ID:9589065 32729018 LOC117979511 programmed cell death protein 1 gene DOID:824 periodontitis ISO RGD:1311658 D RGD:9068941 20201203 RGD protein:increased expression:periodontium PMID:32346701|REF_RGD_ID:40886271 32729018 LOC117979511 programmed cell death protein 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1311658 D RGD:9068941 20201203 RGD PMID:29665726|REF_RGD_ID:40886268 32729018 LOC117979511 programmed cell death protein 1 gene DOID:9001228 Fungemia ISO RGD:1323232 D RGD:9068941 20201112 RGD protein:increased expression:CD4 Tcell, CD8 Tcell: PMID:23663657|REF_RGD_ID:40818234 32729018 LOC117979511 programmed cell death protein 1 gene DOID:9001228 Fungemia treatment ISO RGD:1323232 D RGD:9068941 20201112 RGD PMID:23663657|REF_RGD_ID:40818234 32729018 LOC117979511 programmed cell death protein 1 gene DOID:9001953 Pneumovirus Infections treatment ISO RGD:1323232 D RGD:9068941 20201203 RGD associated with reinfection PMID:25339663|REF_RGD_ID:40822811 32729018 LOC117979511 programmed cell death protein 1 gene DOID:9002433 Schistosomiasis Japonica ISO RGD:1323232 D RGD:9068941 20201203 RGD protein:increased expression:CD4 T cell PMID:27792733|REF_RGD_ID:40818413 32729018 LOC117979511 programmed cell death protein 1 gene DOID:9002433 Schistosomiasis Japonica severity ISO RGD:1323232 D RGD:9068941 20201127 RGD PMID:27792733|REF_RGD_ID:40818413 32729018 LOC117979511 programmed cell death protein 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis susceptibility ISO RGD:1323232 D RGD:9068941 20201117 RGD PMID:24648472|REF_RGD_ID:40818258 32729018 LOC117979511 programmed cell death protein 1 gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:1323232 D RGD:9068941 20200702 RGD PMID:19208793|REF_RGD_ID:9589070 32729018 LOC117979511 programmed cell death protein 1 gene DOID:9004118 Experimental Melanoma treatment ISO RGD:1323232 D RGD:9068941 20200702 RGD PMID:19208793|REF_RGD_ID:9589070 32729018 LOC117979511 programmed cell death protein 1 gene DOID:9004283 Transplant Rejection ISO RGD:1323232 D RGD:9068941 20200702 RGD PMID:17198268|PMID:17489865|REF_RGD_ID:9589060|REF_RGD_ID:9589063 32729018 LOC117979511 programmed cell death protein 1 gene DOID:9004484 Sepsis disease_progression ISO RGD:1323232 D RGD:9068941 20201117 RGD PMID:19332785|REF_RGD_ID:40818273 32729018 LOC117979511 programmed cell death protein 1 gene DOID:9006925 Hepatic Echinococcosis ISO RGD:1323232 D RGD:9068941 20210219 RGD mRNA, protein:increased expression:liver PMID:25907244|REF_RGD_ID:41412175 32729018 LOC117979511 programmed cell death protein 1 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1323232 D RGD:9068941 20201117 RGD protein:increased expression:CD8 T cell PMID:22797302|REF_RGD_ID:40818270 32729018 LOC117979511 programmed cell death protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1311658 D RGD:9068941 20200702 RGD protein:increased expression:colonic mucosa, lymphocyte PMID:24165459|REF_RGD_ID:9589083 32729018 LOC117979511 programmed cell death protein 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1323232 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 32729018 LOC117979511 programmed cell death protein 1 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1323232 D RGD:9068941 20210212 RGD PMID:26712908|REF_RGD_ID:41410789 32729018 LOC117979511 programmed cell death protein 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1323232 D RGD:9068941 20200702 RGD protein:increased expression:kidney PMID:23219834|REF_RGD_ID:7248672 32729018 Pdcd1 programmed cell death 1 gene DOID:9007730 Burns treatment ISO RGD:1323232 D RGD:9068941 20210212 RGD associated with Staphylococcal Infections PMID:29345058|REF_RGD_ID:41410788 32729022 LOC117976364 uncharacterized LOC117976364 gene DOID:5419 schizophrenia ISO RGD:4140188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 32729023 SUMO3 small ubiquitin like modifier 3 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1346388 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 32729023 SUMO3 small ubiquitin like modifier 3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1346388 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 32729023 SUMO3 small ubiquitin like modifier 3 gene DOID:0110266 cataract 9 multiple types ISO RGD:1346388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 32729023 SUMO3 small ubiquitin like modifier 3 gene DOID:12849 autistic disorder ISO RGD:1346388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32729023 SUMO3 small ubiquitin like modifier 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1346388 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 32729023 SUMO3 small ubiquitin like modifier 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 32729023 SUMO3 small ubiquitin like modifier 3 gene DOID:9263 homocystinuria ISO RGD:1346388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 32729023 SUMO3 small ubiquitin like modifier 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1346388 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 32729064 METTL2B methyltransferase 2B, methylcytidine gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 32729064 METTL2B methyltransferase 2B, methylcytidine gene DOID:630 genetic disease ISO RGD:1350099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32729067 PRR4 proline rich 4 gene DOID:630 genetic disease ISO RGD:1346469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32729068 CHTF8 chromosome transmission fidelity factor 8 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1606282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 32729068 CHTF8 chromosome transmission fidelity factor 8 gene DOID:630 genetic disease ISO RGD:1606282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32729071 LOC117978839 putative ubiquitin carboxyl-terminal hydrolase 41 gene DOID:0060041 autism spectrum disorder ISO RGD:1604943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 32729071 LOC117978839 putative ubiquitin carboxyl-terminal hydrolase 41 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1604943 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 32729071 LOC117978839 putative ubiquitin carboxyl-terminal hydrolase 41 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1604943 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 32729071 LOC117978839 putative ubiquitin carboxyl-terminal hydrolase 41 gene DOID:1059 intellectual disability ISO RGD:1604943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 32729071 LOC117978839 putative ubiquitin carboxyl-terminal hydrolase 41 gene DOID:11198 DiGeorge syndrome ISO RGD:1604943 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 32729071 LOC117978839 putative ubiquitin carboxyl-terminal hydrolase 41 gene DOID:11372 megacolon ISO RGD:1604943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 32729071 LOC117978839 putative ubiquitin carboxyl-terminal hydrolase 41 gene DOID:12583 velocardiofacial syndrome ISO RGD:1604943 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 32729071 LOC117978839 putative ubiquitin carboxyl-terminal hydrolase 41 gene DOID:12849 autistic disorder ISO RGD:1604943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32729071 LOC117978839 putative ubiquitin carboxyl-terminal hydrolase 41 gene DOID:1826 epilepsy ISO RGD:1604943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 32729071 LOC117978839 putative ubiquitin carboxyl-terminal hydrolase 41 gene DOID:2213 hemorrhagic disease ISO RGD:1604943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 32729071 LOC117978839 putative ubiquitin carboxyl-terminal hydrolase 41 gene DOID:5419 schizophrenia ISO RGD:1604943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 32729071 LOC117978839 putative ubiquitin carboxyl-terminal hydrolase 41 gene DOID:612 primary immunodeficiency disease ISO RGD:1604943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 32729071 LOC117978839 putative ubiquitin carboxyl-terminal hydrolase 41 gene DOID:9003871 Venous Thrombosis ISO RGD:1604943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 32729071 LOC117978839 putative ubiquitin carboxyl-terminal hydrolase 41 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 32729071 LOC117978839 putative ubiquitin carboxyl-terminal hydrolase 41 gene DOID:9007661 Dwarfism ISO RGD:1604943 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 32729112 RNF103 ring finger protein 103 gene DOID:1596 depressive disorder ISO RGD:620586 D RGD:9068941 20200702 RGD PMID:11071867|REF_RGD_ID:634523 32729112 RNF103 ring finger protein 103 gene DOID:630 genetic disease ISO RGD:1349364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32729112 RNF103 ring finger protein 103 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1349364 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 32729112 RNF103 ring finger protein 103 gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1349364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 32729180 NANOS1 nanos C2HC-type zinc finger 1 gene DOID:0070171 spermatogenic failure 12 ISO RGD:1317831 D RGD:7240710 20200701 OMIM 32729180 NANOS1 nanos C2HC-type zinc finger 1 gene DOID:1790 malignant mesothelioma ISO RGD:1317831 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 32729180 NANOS1 nanos C2HC-type zinc finger 1 gene DOID:630 genetic disease ISO RGD:1317831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32729211 SSX4B SSX family member 4B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604130 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 32729211 SSX4B SSX family member 4B gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1604130 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 32729211 SSX4B SSX family member 4B gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1604130 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 32729211 SSX4B SSX family member 4B gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1604130 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 32729211 SSX4B SSX family member 4B gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1604130 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 32729211 SSX4B SSX family member 4B gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1604130 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 32729211 SSX4B SSX family member 4B gene DOID:12849 autistic disorder ISO RGD:1604130 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32729211 SSX4B SSX family member 4B gene DOID:630 genetic disease ISO RGD:1604130 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32729218 SCRT2 scratch family transcriptional repressor 2 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:1348701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:20206331|PMID:22824638|PMID:24239381|PMID:25462087|PMID:28492532 32729218 SCRT2 scratch family transcriptional repressor 2 gene DOID:630 genetic disease ISO RGD:1348701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32729218 SCRT2 scratch family transcriptional repressor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 32729218 SCRT2 scratch family transcriptional repressor 2 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:1348701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency PMID:28492532 32729219 ELOB elongin B gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:734149 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 32729219 ELOB elongin B gene DOID:1826 epilepsy ISO RGD:734149 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 32729219 ELOB elongin B gene DOID:1827 idiopathic generalized epilepsy ISO RGD:734149 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 32729219 ELOB elongin B gene DOID:630 genetic disease ISO RGD:734149 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32729221 ANKRD18B ankyrin repeat domain 18B gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1351862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 32729221 ANKRD18B ankyrin repeat domain 18B gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1351862 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 32729221 ANKRD18B ankyrin repeat domain 18B gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1351862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 32729221 ANKRD18B ankyrin repeat domain 18B gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 32729221 ANKRD18B ankyrin repeat domain 18B gene DOID:9870 galactosemia ISO RGD:1351862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 32729228 ALG1L2 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like 2 gene DOID:0111947 immunodeficiency 21 ISO RGD:3378598 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 32729228 ALG1L2 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like 2 gene DOID:12849 autistic disorder ISO RGD:3378598 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism 32729228 ALG1L2 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like 2 gene DOID:630 genetic disease ISO RGD:3378598 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32729228 ALG1L2 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:3378598 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868|PMID:28492532 32729228 ALG1L2 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like 2 gene DOID:9270 alkaptonuria ISO RGD:3378598 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 32729229 LOC117976674 protein FAM106B gene DOID:12849 autistic disorder ISO RGD:3302126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32729240 NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1606289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25901006 32729240 NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:0112095 nuclear type mitochondrial complex I deficiency 28 ISO RGD:1606289 D RGD:7240710 20200701 OMIM 32729240 NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:0112095 nuclear type mitochondrial complex I deficiency 28 ISO RGD:1606289 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 PMID:25741868|PMID:25901006 32729240 NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:14330 Parkinson's disease ISO RGD:1606289 D RGD:9068941 20200702 RGD PMID:26605748|REF_RGD_ID:13504667 32729240 NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:3652 Leigh disease ISO RGD:1606289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868 32729240 NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:630 genetic disease ISO RGD:1606289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 32729240 NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:8161 thyroid gland Hurthle cell carcinoma ISO RGD:1606289 D RGD:7240710 20200701 OMIM 32729240 NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:8161 thyroid gland Hurthle cell carcinoma ISO RGD:1606289 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hurthle cell carcinoma of the thyroid PMID:15841082|PMID:25741868 32729247 KCNJ12 potassium inwardly rectifying channel subfamily J member 12 gene DOID:11054 urinary bladder cancer ISO RGD:733298 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34755307 32729247 KCNJ12 potassium inwardly rectifying channel subfamily J member 12 gene DOID:9000081 Lymphatic Metastasis ISO RGD:733298 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34755307 32729247 KCNJ12 potassium inwardly rectifying channel subfamily J member 12 gene DOID:9000918 Disease Progression ISO RGD:733298 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34755307 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:0050827 rheumatic heart disease treatment ISO RGD:69272 D RGD:9068941 20220121 RGD PMID:31894293|REF_RGD_ID:151347417 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:0050861 colorectal adenocarcinoma no_association ISO RGD:1347441 D RGD:9068941 20220107 RGD PMID:25339048|REF_RGD_ID:150573690 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1347441 D RGD:9068941 20200702 RGD mRNA:increased expression:breast PMID:12888825|REF_RGD_ID:2298909 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:0060180 colitis ISO RGD:737488 D RGD:9068941 20220114 RGD PMID:16717119|REF_RGD_ID:150573704 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:0080199 colorectal carcinoma ISO RGD:737488 D RGD:9068941 20220114 RGD PMID:16717119|REF_RGD_ID:150573704 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1347441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:10283 prostate cancer ISO RGD:1347441 D RGD:9068941 20200702 RGD DNA:hypermethylation PMID:16458425|REF_RGD_ID:2290486 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:11054 urinary bladder cancer ISO RGD:1347441 D RGD:9068941 20200702 RGD DNA:hypermethylation PMID:17522834|REF_RGD_ID:2298903 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1347441 D RGD:9068941 20200702 RGD DNA:hypermethylation:promoter PMID:16242928|REF_RGD_ID:2298906 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:12351 alcoholic hepatitis ISO RGD:69272 D RGD:9068941 20220121 RGD mRNA:decreased expression:liver PMID:32317960|REF_RGD_ID:151347420 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:14115 toxic shock syndrome severity ISO RGD:732457 D RGD:9068941 20220114 RGD PMID:19469017|REF_RGD_ID:150573701 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:1909 melanoma ameliorates ISO RGD:732457 D RGD:9068941 20220114 RGD PMID:19469017|REF_RGD_ID:150573701 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:219 colon cancer ameliorates ISO RGD:732457 D RGD:9068941 20220114 RGD PMID:19469017|REF_RGD_ID:150573701 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:69272 D RGD:9068941 20220121 RGD PMID:33081480|REF_RGD_ID:151347423 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1347441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:2600 laryngeal carcinoma severity ISO RGD:1347441 D RGD:9068941 20220114 RGD PMID:20164024|REF_RGD_ID:150573814 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:1347441 D RGD:9068941 20200702 RGD mRNA:increased expression:breast PMID:12888825|REF_RGD_ID:2298909 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1347441 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1347441 D RGD:9068941 20220114 RGD mRNA:decreased expression:esophagus PMID:31728180|REF_RGD_ID:150573815 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1347441 D RGD:9068941 20220107 RGD PMID:21385099|REF_RGD_ID:150573691 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:3748 esophagus squamous cell carcinoma treatment ISO RGD:732457 D RGD:9068941 20220114 RGD PMID:28233302|REF_RGD_ID:150573812 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1347441 D RGD:9068941 20220114 RGD PMID:31910343|REF_RGD_ID:150573699 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:4001 ovarian carcinoma ISO RGD:1347441 D RGD:9068941 20200702 RGD DNA:hypermethylation PMID:15361843|REF_RGD_ID:2298907 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:409 liver disease ISO RGD:1347441 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:15197228 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:5041 esophageal cancer ISO RGD:1347441 D RGD:9068941 20220114 RGD mRNA,protein:decreased expression:esophagus: PMID:33862112|REF_RGD_ID:151232285 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:5082 liver cirrhosis exacerbates ISO RGD:732457 D RGD:9068941 20220114 RGD associated with Chemical and Drug Induced Liver Injury; PMID:30097285|REF_RGD_ID:150573810 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1347441 D RGD:9068941 20200702 RGD mRNA:decreased expression:uterine cervix PMID:16878360|REF_RGD_ID:2298904 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:5812 MHC class II deficiency ISO RGD:1347441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:5844 myocardial infarction ISO RGD:69272 D RGD:9068941 20200702 RGD protein:increased expression:heart PMID:16377761|REF_RGD_ID:2298918 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:630 genetic disease ISO RGD:1347441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1347441 D RGD:9068941 20220107 RGD associated with liver cirrhosis;DNA:altered methylation:liver: PMID:14614012|REF_RGD_ID:150573687 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1347441 D RGD:9068941 20220114 RGD DNA:hypermethylation:CpG island, 5'untranslated region: PMID:15235874|REF_RGD_ID:150573700 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:684 hepatocellular carcinoma ISO RGD:69272 D RGD:9068941 20220107 RGD PMID:18843197|REF_RGD_ID:150573689 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1347441 D RGD:9068941 20220114 RGD PMID:22318090|REF_RGD_ID:150573703 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:718 autoimmune hemolytic anemia ISO RGD:1347441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic autoimmune hemolytic anemia PMID:32853638|PMID:33087723 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1347441 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoimmune thrombocytopenic purpura | ClinVar Annotator: match by term: Idiopathic thrombocytopenic purpura PMID:32853638|PMID:33087723 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347441 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:15197228 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1347441 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:15197228 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:9002063 Familial Autoinflammatory Syndrome, with or without Immunodeficiency ISO RGD:1347441 D RGD:7240710 20210707 OMIM 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:9002063 Familial Autoinflammatory Syndrome, with or without Immunodeficiency ISO RGD:1347441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY PMID:25741868|PMID:32499645|PMID:32853638|PMID:33087723 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:69272 D RGD:9068941 20220121 RGD PMID:31599432|REF_RGD_ID:151347182 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1347441 D RGD:9068941 20200702 CTD CTD Direct Evidence: therapeutic PMID:25780291 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:9004484 Sepsis ISO RGD:69272 D RGD:9068941 20200702 RGD mRNA:increased expression:liver PMID:11312157|REF_RGD_ID:634751 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:9004484 Sepsis ISO RGD:69272 D RGD:9068941 20200702 RGD protein:increased expression:gastrocnemius PMID:12644450|REF_RGD_ID:2298924 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1347441 D RGD:9068941 20200702 RGD PMID:20354188|REF_RGD_ID:21079418 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732457 D RGD:9068941 20200702 RGD mRNA:increased expression:mammary gland PMID:18381452|REF_RGD_ID:2298899 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:9005647 Experimental Autoimmune Uveitis ameliorates ISO RGD:732457 D RGD:9068941 20220114 RGD PMID:24993154|REF_RGD_ID:151232288 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:9005930 Endotoxemia ISO RGD:732457 D RGD:9068941 20200702 RGD mRNA:increased expression:liver, skeletal muscle PMID:15169905|REF_RGD_ID:2298923 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:9005968 Neuralgia treatment ISO RGD:69272 D RGD:9068941 20220121 RGD PMID:27059231|REF_RGD_ID:151347419 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:9006599 Hypertriglyceridemia ISO RGD:732457 D RGD:9068941 20200702 RGD associated with Obesity PMID:15240880|REF_RGD_ID:1625677 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:9007204 Dysbiosis ISO RGD:732457 D RGD:9068941 20220107 RGD PMID:30820436|REF_RGD_ID:150573685 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:9007692 Insulin Resistance ISO RGD:732457 D RGD:9068941 20200702 RGD associated with Diabetes Mellitus PMID:15240880|REF_RGD_ID:1625677 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:69272 D RGD:9068941 20220121 RGD PMID:27538408|REF_RGD_ID:151347179 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:9008907 Immuno-Hemolytic Anemia ISO RGD:1347441 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Immuno-hemolytic anemia PMID:32853638|PMID:33087723 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1347441 D RGD:9068941 20200702 RGD DNA:hypermethylation PMID:15361843|REF_RGD_ID:2298907 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1347441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus PMID:33087723 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1347441 D RGD:9068941 20220114 RGD DNA:hypermethylation: : PMID:12759928|REF_RGD_ID:150573811 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1347441 D RGD:9068941 20220107 RGD PMID:27133036|REF_RGD_ID:150573688 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:9351 diabetes mellitus ameliorates ISO RGD:732457 D RGD:9068941 20220114 RGD PMID:15100317|REF_RGD_ID:151232286 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:9452 fatty liver disease ISO RGD:732457 D RGD:9068941 20200702 RGD associated with Obesity PMID:15240880|REF_RGD_ID:1625677 32729262 SOCS1 suppressor of cytokine signaling 1 gene DOID:9970 obesity ISO RGD:69272 D RGD:9068941 20200702 RGD mRNA, protein:increased expression:white fat PMID:11027633|REF_RGD_ID:2298920 32729266 ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif 7 gene DOID:11612 polycystic ovary syndrome ISO RGD:1315487 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 32729266 ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif 7 gene DOID:2717 Bloom syndrome ISO RGD:1315487 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 32729266 ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif 7 gene DOID:3393 coronary artery disease ISO RGD:1315487 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 32729266 ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif 7 gene DOID:630 genetic disease ISO RGD:1315487 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32729266 ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif 7 gene DOID:9000528 Coronary Disease ISO RGD:1315487 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Three Vessel Coronary Disease 32729266 ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif 7 gene DOID:9256 colorectal cancer ISO RGD:1315487 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 32729284 CFHR1 complement factor H related 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1346225 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 32729284 CFHR1 complement factor H related 1 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1346225 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:16998489|PMID:17367211|PMID:18006700|PMID:20843825|PMID:25741868|PMID:26284228 32729284 CFHR1 complement factor H related 1 gene DOID:0080301 atypical hemolytic-uremic syndrome susceptibility ISO RGD:1346225 D RGD:7240710 20230510 OMIM 32729284 CFHR1 complement factor H related 1 gene DOID:0110014 age related macular degeneration 1 ISO RGD:1346225 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 32729284 CFHR1 complement factor H related 1 gene DOID:0110014 age related macular degeneration 1 susceptibility ISO RGD:1346225 D RGD:7240710 20230510 OMIM 32729284 CFHR1 complement factor H related 1 gene DOID:10871 age related macular degeneration ISO RGD:1346225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Age-related macular degeneration PMID:16998489|PMID:17367211|PMID:18006700|PMID:20843825 32729284 CFHR1 complement factor H related 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1346225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 32729284 CFHR1 complement factor H related 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1346225 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:21399633 32729284 CFHR1 complement factor H related 1 gene DOID:557 kidney disease ISO RGD:1346225 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868 32729284 CFHR1 complement factor H related 1 gene DOID:630 genetic disease ISO RGD:1346225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32729284 CFHR1 complement factor H related 1 gene DOID:784 chronic kidney disease ISO RGD:1346225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868 32729284 CFHR1 complement factor H related 1 gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1346225 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 32729284 CFHR1 complement factor H related 1 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1346225 D RGD:9068941 20200702 RGD DNA:deletion: : PMID:26317246|REF_RGD_ID:11341662 32729284 CFHR1 complement factor H related 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 32729284 CFHR1 complement factor H related 1 gene DOID:9538 multiple myeloma treatment ISO RGD:1346225 D RGD:9068941 20200702 RGD PMID:22348216|REF_RGD_ID:11040544 32729294 ETHE1 ETHE1 persulfide dioxygenase gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1322274 D RGD:7240710 20200701 OMIM 32729294 ETHE1 ETHE1 persulfide dioxygenase gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1322274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:14732903|PMID:16183799|PMID:16199547|PMID:16828325|PMID:16906473|PMID:17353187|PMID:17576681|PMID:17712735|PMID:18593870|PMID:19136963|PMID:19289697|PMID:20528888|PMID:21472225|PMID:25058219|PMID:25198162|PMID:25596185|PMID:25741868|PMID:26194623|PMID:27391121|PMID:2777167|PMID:27771676|PMID:27830356|PMID:28492532|PMID:28933811|PMID:29625556|PMID:30298498|PMID:30349987|PMID:30864297|PMID:31477743|PMID:32111695|PMID:32485156|PMID:32860008|PMID:32923369|PMID:9536098 32729294 ETHE1 ETHE1 persulfide dioxygenase gene DOID:5419 schizophrenia ISO RGD:1322274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 32729294 ETHE1 ETHE1 persulfide dioxygenase gene DOID:630 genetic disease ISO RGD:1322274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 32729294 ETHE1 ETHE1 persulfide dioxygenase gene DOID:9006534 Nervous System Malformations ISO RGD:1322274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:28933811 32729300 CES3 carboxylesterase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:735260 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 32729300 CES3 carboxylesterase 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:735260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 32729300 CES3 carboxylesterase 3 gene DOID:0110255 cataract 5 multiple types ISO RGD:735260 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 32729300 CES3 carboxylesterase 3 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735260 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 32729300 CES3 carboxylesterase 3 gene DOID:630 genetic disease ISO RGD:735260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32729300 CES3 carboxylesterase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735260 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 32729300 CES3 carboxylesterase 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:735260 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 32729337 LOC117978823 battenin gene DOID:0110731 neuronal ceroid lipofuscinosis 3 ISO RGD:1552285 D RGD:9068941 20230506 MouseDO OMIM:204200 32729385 SOX18 SRY-box transcription factor 18 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1323321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 32729385 SOX18 SRY-box transcription factor 18 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1323321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 32729385 SOX18 SRY-box transcription factor 18 gene DOID:0111360 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome ISO RGD:1323321 D RGD:7240710 20200701 OMIM 32729385 SOX18 SRY-box transcription factor 18 gene DOID:0111360 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome ISO RGD:1323321 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome PMID:12740761|PMID:24697860|PMID:2484451|PMID:25741868|PMID:28492532|PMID:29307792 32729385 SOX18 SRY-box transcription factor 18 gene DOID:0111361 hypotrichosis-lymphedema-telangiectasia syndrome ISO RGD:1323321 D RGD:7240710 20200701 OMIM 32729385 SOX18 SRY-box transcription factor 18 gene DOID:0111361 hypotrichosis-lymphedema-telangiectasia syndrome ISO RGD:1323321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia syndrome PMID:11701398|PMID:12740761|PMID:24697860|PMID:26148450 32729385 SOX18 SRY-box transcription factor 18 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1323321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 32729385 SOX18 SRY-box transcription factor 18 gene DOID:37 skin disease ISO RGD:1323321 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 32729385 SOX18 SRY-box transcription factor 18 gene DOID:630 genetic disease ISO RGD:1323321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 32729385 SOX18 SRY-box transcription factor 18 gene DOID:9007964 Arsenic Poisoning ISO RGD:1323321 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 32729387 LOC117976541 CMT1A duplicated region transcript 15 protein-like protein gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1603575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:12207933|PMID:1303230|PMID:1677316|PMID:1822787|PMID:20493460|PMID:20739940|PMID:22190321|PMID:28492532 32729387 LOC117976541 CMT1A duplicated region transcript 15 protein-like protein gene DOID:0060041 autism spectrum disorder ISO RGD:1603575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:23044707|PMID:25741868|PMID:27569545 32729387 LOC117976541 CMT1A duplicated region transcript 15 protein-like protein gene DOID:0110148 Charcot-Marie-Tooth disease type 1A ISO RGD:1603575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA PMID:25741868 32729387 LOC117976541 CMT1A duplicated region transcript 15 protein-like protein gene DOID:12849 autistic disorder ISO RGD:1603575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32729387 LOC117976541 CMT1A duplicated region transcript 15 protein-like protein gene DOID:5419 schizophrenia ISO RGD:1603575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 32729387 LOC117976541 CMT1A duplicated region transcript 15 protein-like protein gene DOID:630 genetic disease ISO RGD:1603575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32729399 HES5 hes family bHLH transcription factor 5 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1353774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 32729399 HES5 hes family bHLH transcription factor 5 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1353774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 32729399 HES5 hes family bHLH transcription factor 5 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1353774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 32729399 HES5 hes family bHLH transcription factor 5 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1353774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 32729399 HES5 hes family bHLH transcription factor 5 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1353774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 32729399 HES5 hes family bHLH transcription factor 5 gene DOID:0111934 immunodeficiency 38 ISO RGD:1353774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 32729399 HES5 hes family bHLH transcription factor 5 gene DOID:0111935 immunodeficiency 16 ISO RGD:1353774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 32729399 HES5 hes family bHLH transcription factor 5 gene DOID:630 genetic disease ISO RGD:1353774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32729399 HES5 hes family bHLH transcription factor 5 gene DOID:863 nervous system disease ISO RGD:1353774 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:23203475 32729399 HES5 hes family bHLH transcription factor 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 32729399 HES5 hes family bHLH transcription factor 5 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1353774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 32729399 HES5 hes family bHLH transcription factor 5 gene DOID:9007502 Brain Neoplasms ISO RGD:1353774 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 32729399 HES5 hes family bHLH transcription factor 5 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1353774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 32729399 HES5 hes family bHLH transcription factor 5 gene DOID:9351 diabetes mellitus ISO RGD:621340 D RGD:9068941 20221110 RGD protein:increased expression:skin: PMID:30886104|REF_RGD_ID:155646129 32729449 PERCC1 proline and glutamate rich with coiled coil 1 gene DOID:9002198 Diarrhea 11 ISO RGD:14696710 D RGD:7240710 20200701 OMIM 32729449 PERCC1 proline and glutamate rich with coiled coil 1 gene DOID:9002198 Diarrhea 11 ISO RGD:14696710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diarrhea 11, malabsorptive, congenital PMID:31217582 32729493 LRATD1 LRAT domain containing 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1602648 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 32729493 LRATD1 LRAT domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1602648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 32729493 LRATD1 LRAT domain containing 1 gene DOID:630 genetic disease ISO RGD:1602648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32729520 URAD ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase gene DOID:630 genetic disease ISO RGD:1626260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32729542 LOC117977735 histone H2A-Bbd type 2/3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1344236 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 32729542 LOC117977735 histone H2A-Bbd type 2/3 gene DOID:0050476 Barth syndrome ISO RGD:1344236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 32729542 LOC117977735 histone H2A-Bbd type 2/3 gene DOID:0050800 creatine transporter deficiency ISO RGD:1344236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 32729542 LOC117977735 histone H2A-Bbd type 2/3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1344236 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 32729542 LOC117977735 histone H2A-Bbd type 2/3 gene DOID:10588 adrenoleukodystrophy ISO RGD:1344236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 32729542 LOC117977735 histone H2A-Bbd type 2/3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1344236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 32729542 LOC117977735 histone H2A-Bbd type 2/3 gene DOID:12849 autistic disorder ISO RGD:1344236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32729542 LOC117977735 histone H2A-Bbd type 2/3 gene DOID:607 paraplegia ISO RGD:1344236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 32729542 LOC117977735 histone H2A-Bbd type 2/3 gene DOID:9002720 Splenomegaly ISO RGD:1344236 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 32729555 PNMA6A PNMA family member 6A gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1346943 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 32729555 PNMA6A PNMA family member 6A gene DOID:0050476 Barth syndrome ISO RGD:1346943 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 32729555 PNMA6A PNMA family member 6A gene DOID:0050800 creatine transporter deficiency ISO RGD:1346943 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 32729555 PNMA6A PNMA family member 6A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346943 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 32729555 PNMA6A PNMA family member 6A gene DOID:10588 adrenoleukodystrophy ISO RGD:1346943 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 32729555 PNMA6A PNMA family member 6A gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1346943 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 32729555 PNMA6A PNMA family member 6A gene DOID:12849 autistic disorder ISO RGD:1346943 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32729555 PNMA6A PNMA family member 6A gene DOID:13628 favism ISO RGD:1346943 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 32729555 PNMA6A PNMA family member 6A gene DOID:2729 dyskeratosis congenita ISO RGD:1346943 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 32729555 PNMA6A PNMA family member 6A gene DOID:607 paraplegia ISO RGD:1346943 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 32729580 LOC117981049 speedy protein E12 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 32729580 LOC117981049 speedy protein E12 gene DOID:630 genetic disease ISO RGD:1605479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:0090103 Huntington's disease-like 1 ISO RGD:737586 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:10763 hypertension ISO RGD:3238 D RGD:9068941 20200702 RGD PMID:18562099|REF_RGD_ID:2304105 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:10763 hypertension ISO RGD:3238 D RGD:9068941 20200702 RGD mRNA:decreased expression:paraventricular hypothalamic nucleus PMID:16157794|REF_RGD_ID:2304174 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:10763 hypertension ISO RGD:737586 D RGD:9068941 20200702 CTD CTD Direct Evidence: therapeutic PMID:18562099|PMID:9334988 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:10808 gastric ulcer ISO RGD:3238 D RGD:9068941 20200702 RGD PMID:11764003|REF_RGD_ID:2304192 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:11247 disseminated intravascular coagulation ISO RGD:737586 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:15547535 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:12849 autistic disorder ISO RGD:737586 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15288368|PMID:18775368 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:2030 anxiety disorder ISO RGD:737586 D RGD:9068941 20200702 CTD CTD Direct Evidence: therapeutic PMID:19228979 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:305 carcinoma ISO RGD:737586 D RGD:9068941 20200702 CTD CTD Direct Evidence: therapeutic PMID:8647655 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:326 ischemia ISO RGD:737586 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:10440088 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:737586 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:47 prostate disease ISO RGD:737586 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:17492653 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:630 genetic disease ISO RGD:737586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:737586 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:4988877|PMID:6407273 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:9000053 Headache ISO RGD:737586 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:7080326 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:9000197 Edema ISO RGD:737586 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:5067144|PMID:5538905 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:9000641 Pain ISO RGD:3238 D RGD:9068941 20200702 RGD PMID:17664006|REF_RGD_ID:2304129 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:9000641 Pain ISO RGD:737586 D RGD:9068941 20200702 CTD CTD Direct Evidence: therapeutic PMID:17420069|PMID:6094376 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:9000892 Fetal Distress ISO RGD:737586 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:2862618 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:9001661 Taste Disorders ISO RGD:737586 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:7080326 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:9001916 Fetal Death ISO RGD:737586 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:5067144 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:9001981 Weight Loss ISO RGD:737586 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:18562099 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:9002362 Hyperkinesis ISO RGD:737586 D RGD:9068941 20200702 CTD CTD Direct Evidence: therapeutic PMID:18092152 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:9002928 Colonic Neoplasms ISO RGD:737586 D RGD:9068941 20200702 CTD CTD Direct Evidence: therapeutic PMID:8647655 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:9004009 Reperfusion Injury ISO RGD:3238 D RGD:9068941 20200702 RGD PMID:18403049|REF_RGD_ID:2304111 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:9004657 Weight Gain ISO RGD:737586 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:18562099 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737586 D RGD:9068941 20200702 CTD CTD Direct Evidence: therapeutic PMID:15089975|PMID:8647655 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:9005274 Polyuria ISO RGD:737586 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:20649851 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:9005289 Water Intoxication ISO RGD:737586 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:292422|PMID:3923190|PMID:4988877|PMID:5067144|PMID:5493616|PMID:5528113|PMID:7360068|PMID:803783 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:9005372 Inflammation ISO RGD:737586 D RGD:9068941 20200702 CTD CTD Direct Evidence: therapeutic PMID:18940936 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:9006024 Hypotension ISO RGD:737586 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:11171655 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:9006462 Coma ISO RGD:737586 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:19397503|PMID:292422|PMID:5067144 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:9006635 Hyponatremia ISO RGD:737586 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:19397503|PMID:3923190|PMID:6407273 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:9006743 Spasm ISO RGD:737586 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:2444298|PMID:3567346|PMID:5784655|PMID:8680739 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:9007730 Burns ISO RGD:3238 D RGD:9068941 20200702 RGD PMID:17826914|REF_RGD_ID:2304127 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:9007763 Flushing ISO RGD:737586 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:7080326 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3238 D RGD:9068941 20200702 RGD PMID:19234577|REF_RGD_ID:2304087 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:9007993 Dehydration ISO RGD:3238 D RGD:9068941 20200702 RGD mRNA:increased expression:paraventricular hypothalamic nucleus, supraoptic nucleus PMID:17393298|REF_RGD_ID:2304139 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:9008644 Dysmenorrhea ISO RGD:737586 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:10440088 32729584 OXT oxytocin/neurophysin I prepropeptide gene DOID:9008941 Muscle Hypertonia ISO RGD:737586 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:2862618 32729588 LOC117974307 glycophorin-A gene DOID:12365 malaria ISO RGD:1352730 D RGD:7240710 20230505 OMIM 32729588 LOC117974307 glycophorin-A gene DOID:630 genetic disease ISO RGD:1352730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32729596 FAM153A family with sequence similarity 153 member A gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 32729596 FAM153A family with sequence similarity 153 member A gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1604707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 32729596 FAM153A family with sequence similarity 153 member A gene DOID:0112103 Sotos syndrome 1 ISO RGD:1604707 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 32729596 FAM153A family with sequence similarity 153 member A gene DOID:2729 dyskeratosis congenita ISO RGD:1604707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 32729596 FAM153A family with sequence similarity 153 member A gene DOID:630 genetic disease ISO RGD:1604707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32729599 VSIG10L2 V-set and immunoglobulin domain containing 10 like 2 gene DOID:5419 schizophrenia ISO RGD:12801887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 32729653 LOC117978925 nuclear pore complex-interacting protein family member A7 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:7246282 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome 32729653 LOC117978925 nuclear pore complex-interacting protein family member A7 gene DOID:5419 schizophrenia ISO RGD:7246282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 32729685 ZNF511 zinc finger protein 511 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1318442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 32729685 ZNF511 zinc finger protein 511 gene DOID:630 genetic disease ISO RGD:1318442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32729729 TIMM23B translocase of inner mitochondrial membrane 23 homolog B gene DOID:5419 schizophrenia ISO RGD:1347528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 32729759 TMEM276 transmembrane protein 276 gene DOID:1059 intellectual disability ISO RGD:151660487 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability PMID:30787422 32729759 TMEM276 transmembrane protein 276 gene DOID:630 genetic disease ISO RGD:151660487 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32729805 LOC117974276 keratin-associated protein 4-2 gene DOID:630 genetic disease ISO RGD:1352495 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32729819 PNO1 partner of NOB1 homolog gene DOID:630 genetic disease ISO RGD:1604334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32729829 LOC117980483 protein FAM153B gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:2292084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 32729829 LOC117980483 protein FAM153B gene DOID:0112103 Sotos syndrome 1 ISO RGD:2292084 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 32729877 FAM120A family with sequence similarity 120A gene DOID:12642 hiatus hernia ISO RGD:1315374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hiatus hernia 32729877 FAM120A family with sequence similarity 120A gene DOID:630 genetic disease ISO RGD:1315374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32729904 COMMD7 COMM domain containing 7 gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1317181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency PMID:28492532 32729904 COMMD7 COMM domain containing 7 gene DOID:630 genetic disease ISO RGD:1317181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32729923 POU3F1 POU class 3 homeobox 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:730819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 32729923 POU3F1 POU class 3 homeobox 1 gene DOID:630 genetic disease ISO RGD:730819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32729923 POU3F1 POU class 3 homeobox 1 gene DOID:7148 rheumatoid arthritis ISO RGD:730819 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 32729942 ZNRF2 zinc and ring finger 2 gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1352531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 32729942 ZNRF2 zinc and ring finger 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 32729942 ZNRF2 zinc and ring finger 2 gene DOID:630 genetic disease ISO RGD:1352531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32729943 CIMAP1D CIMAP1 family member D gene DOID:630 genetic disease ISO RGD:1321058 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32730035 TMEM253 transmembrane protein 253 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1626192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 32730035 TMEM253 transmembrane protein 253 gene DOID:630 genetic disease ISO RGD:1626192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32730035 TMEM253 transmembrane protein 253 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1626192 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 32730071 ONECUT3 one cut homeobox 3 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1351058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 32730071 ONECUT3 one cut homeobox 3 gene DOID:5339 cyclic hematopoiesis ISO RGD:1351058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 32730071 ONECUT3 one cut homeobox 3 gene DOID:630 genetic disease ISO RGD:1351058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32730071 ONECUT3 one cut homeobox 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 32730165 FSTL1 follistatin like 1 gene DOID:3021 acute kidney failure ISO RGD:69033 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:20861081 32730165 FSTL1 follistatin like 1 gene DOID:418 systemic scleroderma ISO RGD:69033 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:27482699 32730165 FSTL1 follistatin like 1 gene DOID:57 aortic valve insufficiency ISO RGD:69033 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 32730165 FSTL1 follistatin like 1 gene DOID:630 genetic disease ISO RGD:69033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32730165 FSTL1 follistatin like 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69033 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 32730165 FSTL1 follistatin like 1 gene DOID:9004657 Weight Gain ISO RGD:69033 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 32730165 FSTL1 follistatin like 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:69033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 32730165 FSTL1 follistatin like 1 gene DOID:9675 pulmonary emphysema ISO RGD:1332393 D RGD:9068941 20220825 MouseDO OMIM:130700 32730187 CEP20 centrosomal protein 20 gene DOID:12849 autistic disorder ISO RGD:1606173 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32730187 CEP20 centrosomal protein 20 gene DOID:1826 epilepsy ISO RGD:1606173 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epilepsy 32730187 CEP20 centrosomal protein 20 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:1606173 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum PMID:11439001|PMID:16541094 32730187 CEP20 centrosomal protein 20 gene DOID:5419 schizophrenia ISO RGD:1606173 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 32730187 CEP20 centrosomal protein 20 gene DOID:8445 intestinal volvulus ISO RGD:1606173 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 32730187 CEP20 centrosomal protein 20 gene DOID:9000664 Familial Thoracic Aortic Aneurysm 4 ISO RGD:1606173 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:22318994|PMID:27884122|PMID:28492532|PMID:29179725 32730187 CEP20 centrosomal protein 20 gene DOID:9007521 Desbuquois Dysplasia 1 ISO RGD:1606173 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 1 PMID:24581741|PMID:26601923|PMID:28492532|PMID:30554721 32730187 CEP20 centrosomal protein 20 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1606173 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 32730231 BCAP31 B cell receptor associated protein 31 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1349319 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 32730231 BCAP31 B cell receptor associated protein 31 gene DOID:0050476 Barth syndrome ISO RGD:1349319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 32730231 BCAP31 B cell receptor associated protein 31 gene DOID:0050800 creatine transporter deficiency ISO RGD:1349319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 32730231 BCAP31 B cell receptor associated protein 31 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 32730231 BCAP31 B cell receptor associated protein 31 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349319 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 32730231 BCAP31 B cell receptor associated protein 31 gene DOID:0112003 immunodeficiency 33 ISO RGD:1349319 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 32730231 BCAP31 B cell receptor associated protein 31 gene DOID:0112123 deafness, dystonia, and cerebral hypomyelination ISO RGD:1349319 D RGD:7240710 20200701 OMIM 32730231 BCAP31 B cell receptor associated protein 31 gene DOID:0112123 deafness, dystonia, and cerebral hypomyelination ISO RGD:1349319 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome PMID:24011989|PMID:25741868 32730231 BCAP31 B cell receptor associated protein 31 gene DOID:10003 sensorineural hearing loss ISO RGD:1349319 D RGD:9068941 20200702 RGD DNA:mutation, deletion:exon:p.Q33X (human) PMID:24011989|REF_RGD_ID:7483567 32730231 BCAP31 B cell receptor associated protein 31 gene DOID:10588 adrenoleukodystrophy ISO RGD:1349319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:25741868|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 32730231 BCAP31 B cell receptor associated protein 31 gene DOID:10907 microcephaly ISO RGD:1349319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 32730231 BCAP31 B cell receptor associated protein 31 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 32730231 BCAP31 B cell receptor associated protein 31 gene DOID:12849 autistic disorder ISO RGD:1349319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32730231 BCAP31 B cell receptor associated protein 31 gene DOID:13628 favism ISO RGD:1349319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 32730231 BCAP31 B cell receptor associated protein 31 gene DOID:2729 dyskeratosis congenita ISO RGD:1349319 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 32730231 BCAP31 B cell receptor associated protein 31 gene DOID:607 paraplegia ISO RGD:1349319 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 32730231 BCAP31 B cell receptor associated protein 31 gene DOID:630 genetic disease ISO RGD:1349319 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10329713|PMID:17056546|PMID:18287538|PMID:24597975|PMID:25741868|PMID:28492532 32730231 BCAP31 B cell receptor associated protein 31 gene DOID:9002720 Splenomegaly ISO RGD:1349319 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 32730231 BCAP31 B cell receptor associated protein 31 gene DOID:9008086 Developmental Disabilities ISO RGD:1349319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:10652 Alzheimer's disease ISO RGD:736208 D RGD:9068941 20200702 RGD mRNA:increased expression:hippocampus CA1 (human) PMID:12391607|REF_RGD_ID:10401229 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:10652 Alzheimer's disease treatment ISO RGD:10326 D RGD:9068941 20200702 RGD PMID:23911420|REF_RGD_ID:10401268 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:11573 listeriosis severity ISO RGD:10326 D RGD:9068941 20210108 RGD PMID:17911624|REF_RGD_ID:40903039 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:12858 Huntington's disease ISO RGD:10326 D RGD:9068941 20200702 RGD protein:increased expression:brain (mouse) PMID:14749423|REF_RGD_ID:10401227 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:14262 oral candidiasis susceptibility ISO RGD:10326 D RGD:9068941 20210108 RGD PMID:26317211|REF_RGD_ID:11079756 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:1725 peritoneum cancer severity ISO RGD:10326 D RGD:9068941 20210108 RGD associated with stomach cancer PMID:26514342|REF_RGD_ID:11556383 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:2256 osteochondrodysplasia ISO RGD:10326 D RGD:9068941 20221020 MouseDO 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:2316 brain ischemia ISO RGD:736208 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:17394460 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:299 adenocarcinoma ISO RGD:736208 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:3770 pulmonary fibrosis ISO RGD:736208 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:17177178 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:399 tuberculosis ISO RGD:10326 D RGD:9068941 20210108 RGD mRNA:increased expression:lung, spleen (mouse) PMID:28558034|REF_RGD_ID:40903038 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:630 genetic disease ISO RGD:736208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:684 hepatocellular carcinoma ISO RGD:736208 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:14563831 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:684 hepatocellular carcinoma ISO RGD:736208 D RGD:9068941 20210108 RGD mRNA:increased expression:liver (human) PMID:30659195|REF_RGD_ID:40903042 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:7148 rheumatoid arthritis ISO RGD:736208 D RGD:9068941 20200702 RGD protein:increased expression:knee, articular cartilage (human) PMID:19248099|REF_RGD_ID:10401213 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:8398 osteoarthritis susceptibility ISO RGD:10326 D RGD:9068941 20200702 RGD PMID:22095691|REF_RGD_ID:10401214 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:9000217 Stomach Neoplasms ISO RGD:736208 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:9000784 Fibrosis ISO RGD:736208 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:29266779 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:9000918 Disease Progression ISO RGD:736208 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:9000998 Brain Injuries ISO RGD:10326 D RGD:9068941 20200702 RGD mRNA, protein:increased expression:cerebral cortex (mouse) PMID:19833158|REF_RGD_ID:10401206 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:9000998 Brain Injuries ISO RGD:736208 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:9001371 Eosinophilia ISO RGD:10326 D RGD:9068941 20210108 RGD PMID:24078688|REF_RGD_ID:40903041 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:9003936 Cardiomegaly ISO RGD:736208 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:29266779 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:9004484 Sepsis ISO RGD:2327 D RGD:9068941 20200702 RGD protein:increased expression:skeletal muscle PMID:11792653|REF_RGD_ID:625506 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:9005036 Bacteremia ISO RGD:10326 D RGD:9068941 20210108 RGD associated with alcohol use disorder;mRNA:increased expression:bone marrow (mouse) PMID:28784931|REF_RGD_ID:40903040 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:9005372 Inflammation ISO RGD:736208 D RGD:9068941 20200702 RGD associated with Arthritis, Rheumatoid;protein:increased expression:synovial lining cell, nucleus (human) PMID:10370372|REF_RGD_ID:10401215 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:9005930 Endotoxemia ISO RGD:10326 D RGD:9068941 20210108 RGD PMID:14659593|REF_RGD_ID:40903034 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:9005930 Endotoxemia treatment ISO RGD:2327 D RGD:9068941 20210108 RGD PMID:15192048|REF_RGD_ID:1625687 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:9006966 Pseudomonas Aeruginosa Keratitis treatment ISO RGD:10326 D RGD:9068941 20210108 RGD mRNA,protein:increased expression:cornea (mouse) PMID:23626014|REF_RGD_ID:40903020 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:9007346 Cachexia treatment ISO RGD:10326 D RGD:9068941 20210108 RGD PMID:27122162|REF_RGD_ID:40903021 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:9007456 Female Infertility ISO RGD:736208 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:21177758 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:9008824 Sarcopenia ISO RGD:736208 D RGD:9068941 20200702 RGD mRNA:increased expression:vastus lateralis muscle (human) PMID:15687482|REF_RGD_ID:10401226 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:934 viral infectious disease ISO RGD:10326 D RGD:9068941 20220825 MouseDO 32730256 CEBPB CCAAT enhancer binding protein beta gene DOID:9452 fatty liver disease ISO RGD:736208 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:24469900 32730274 EXOSC6 exosome component 6 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1320385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 32730274 EXOSC6 exosome component 6 gene DOID:630 genetic disease ISO RGD:1320385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32730286 NPW neuropeptide W gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1605830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 32730286 NPW neuropeptide W gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 32730286 NPW neuropeptide W gene DOID:1826 epilepsy ISO RGD:1605830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 32730286 NPW neuropeptide W gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 32730286 NPW neuropeptide W gene DOID:630 genetic disease ISO RGD:1605830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32730291 LOC117978629 tripartite motif-containing protein 73 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1354482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 32730291 LOC117978629 tripartite motif-containing protein 73 gene DOID:630 genetic disease ISO RGD:1354482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32730291 LOC117978629 tripartite motif-containing protein 73 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1354482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 32730292 UTF1 undifferentiated embryonic cell transcription factor 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1346918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 32730292 UTF1 undifferentiated embryonic cell transcription factor 1 gene DOID:630 genetic disease ISO RGD:1346918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32730305 OLIG1 oligodendrocyte transcription factor 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1350271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 32730305 OLIG1 oligodendrocyte transcription factor 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1350271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 32730305 OLIG1 oligodendrocyte transcription factor 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1350271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 32730305 OLIG1 oligodendrocyte transcription factor 1 gene DOID:630 genetic disease ISO RGD:1350271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32730305 OLIG1 oligodendrocyte transcription factor 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1552169 D RGD:9068941 20201211 RGD PMID:24941845|REF_RGD_ID:40902822 32730305 OLIG1 oligodendrocyte transcription factor 1 gene DOID:9005698 ZTTK Syndrome ISO RGD:1350271 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 32730311 LOC117977538 protein FAM236D gene DOID:12849 autistic disorder ISO RGD:12790801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32730420 RHOXF2 Rhox homeobox family member 2 gene DOID:0050437 Danon disease ISO RGD:1626588 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 32730420 RHOXF2 Rhox homeobox family member 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1626588 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 32730420 RHOXF2 Rhox homeobox family member 2 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1626588 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 32730420 RHOXF2 Rhox homeobox family member 2 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1626588 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 32730420 RHOXF2 Rhox homeobox family member 2 gene DOID:12849 autistic disorder ISO RGD:1626588 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32730420 RHOXF2 Rhox homeobox family member 2 gene DOID:630 genetic disease ISO RGD:1626588 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32730441 SLC22A25 solute carrier family 22 member 25 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606386 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 32730441 SLC22A25 solute carrier family 22 member 25 gene DOID:1059 intellectual disability ISO RGD:1606386 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Intellectual disability 32730441 SLC22A25 solute carrier family 22 member 25 gene DOID:630 genetic disease ISO RGD:1606386 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32730451 GYPE glycophorin E (MNS blood group) gene DOID:630 genetic disease ISO RGD:1353887 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32730539 C10H10orf95 chromosome 10 C10orf95 homolog gene DOID:630 genetic disease ISO RGD:1349493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32730563 LOC117981347 beta-defensin 106A gene DOID:630 genetic disease ISO RGD:1347359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32730593 NPTX2 neuronal pentraxin 2 gene DOID:0060001 withdrawal disorder ISO RGD:1319794 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:19084905 32730593 NPTX2 neuronal pentraxin 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 32730593 NPTX2 neuronal pentraxin 2 gene DOID:630 genetic disease ISO RGD:1319794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32730629 VEGFB vascular endothelial growth factor B gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1343221 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 32730629 VEGFB vascular endothelial growth factor B gene DOID:1059 intellectual disability ISO RGD:1343221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 32730629 VEGFB vascular endothelial growth factor B gene DOID:1727 retinal vein occlusion ISO RGD:619799 D RGD:9068941 20200702 RGD PMID:21487926|REF_RGD_ID:5490120 32730629 VEGFB vascular endothelial growth factor B gene DOID:1793 pancreatic cancer ISO RGD:1343221 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:24604347 32730629 VEGFB vascular endothelial growth factor B gene DOID:3070 high grade glioma ISO RGD:1343221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 32730629 VEGFB vascular endothelial growth factor B gene DOID:5844 myocardial infarction ISO RGD:1343221 D RGD:9068941 20200702 RGD PMID:17975666|REF_RGD_ID:2314324 32730629 VEGFB vascular endothelial growth factor B gene DOID:630 genetic disease ISO RGD:1343221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32730629 VEGFB vascular endothelial growth factor B gene DOID:6432 pulmonary hypertension ISO RGD:1343221 D RGD:9068941 20200702 RGD PMID:12547729|REF_RGD_ID:1625708 32730629 VEGFB vascular endothelial growth factor B gene DOID:9000918 Disease Progression ISO RGD:1343221 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:23146280 32730629 VEGFB vascular endothelial growth factor B gene DOID:9000998 Brain Injuries ISO RGD:619799 D RGD:9068941 20200702 RGD mRNA, protein:increased expression:brain PMID:12230324|REF_RGD_ID:1580574 32730629 VEGFB vascular endothelial growth factor B gene DOID:9001044 Choroidal Neovascularization ISO RGD:1622354 D RGD:9068941 20200702 RGD PMID:19369214|REF_RGD_ID:2314323 32730629 VEGFB vascular endothelial growth factor B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1622354 D RGD:9068941 20200702 RGD mRNA:decreased expression:skeletal muscle PMID:16816123|REF_RGD_ID:2313725 32730629 VEGFB vascular endothelial growth factor B gene DOID:9007748 Retinal Neovascularization ISO RGD:1622354 D RGD:9068941 20200702 RGD PMID:19369214|REF_RGD_ID:2314323 32730629 VEGFB vascular endothelial growth factor B gene DOID:9008939 Breast Neoplasms ISO RGD:1343221 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:23146280 32730637 LOC117977599 zinc finger X-linked protein ZXDB gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 32730637 LOC117977599 zinc finger X-linked protein ZXDB gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1351401 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:9383023 32730637 LOC117977599 zinc finger X-linked protein ZXDB gene DOID:12849 autistic disorder ISO RGD:1351401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32730637 LOC117977599 zinc finger X-linked protein ZXDB gene DOID:630 genetic disease ISO RGD:1351401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32730645 KIF27 kinesin family member 27 gene DOID:630 genetic disease ISO RGD:1344489 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32730652 SLC17A4 solute carrier family 17 member 4 gene DOID:630 genetic disease ISO RGD:1314119 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32730761 POMZP3 POM121 and ZP3 fusion gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 32730761 POMZP3 POM121 and ZP3 fusion gene DOID:630 genetic disease ISO RGD:1350881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32730761 POMZP3 POM121 and ZP3 fusion gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1350881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 32730790 GARIN2 golgi associated RAB2 interactor family member 2 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1353197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 32730790 GARIN2 golgi associated RAB2 interactor family member 2 gene DOID:630 genetic disease ISO RGD:1353197 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32730816 LOC117974246 GRB2-related adapter protein-like gene DOID:0050777 Joubert syndrome ISO RGD:3255320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 32730816 LOC117974246 GRB2-related adapter protein-like gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:3255320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 32730816 LOC117974246 GRB2-related adapter protein-like gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:3255320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 32730816 LOC117974246 GRB2-related adapter protein-like gene DOID:12849 autistic disorder ISO RGD:3255320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32730816 LOC117974246 GRB2-related adapter protein-like gene DOID:9001634 Meckel Syndrome 9 ISO RGD:3255320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 32730826 MUC21 mucin 21, cell surface associated gene DOID:0050553 JMP syndrome ISO RGD:1606083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 32730826 MUC21 mucin 21, cell surface associated gene DOID:11372 megacolon ISO RGD:1606083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 32730826 MUC21 mucin 21, cell surface associated gene DOID:630 genetic disease ISO RGD:1606083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32730871 SH2B2 SH2B adaptor protein 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 32730871 SH2B2 SH2B adaptor protein 2 gene DOID:630 genetic disease ISO RGD:736917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32730874 NPIPB2 nuclear pore complex interacting protein family member B2 gene DOID:5419 schizophrenia ISO RGD:11537411 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 32730874 NPIPB2 nuclear pore complex interacting protein family member B2 gene DOID:630 genetic disease ISO RGD:11537411 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32730874 NPIPB2 nuclear pore complex interacting protein family member B2 gene DOID:6785 desmoplastic small round cell tumor ISO RGD:11537411 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Desmoplastic small round cell tumor PMID:26822237 32730892 LOC117975672 COL4A2 antisense RNA 2 gene DOID:0112314 brain small vessel disease 2 ISO RGD:5132556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Porencephaly 2 PMID:16199547|PMID:22209246|PMID:22209247|PMID:22333902|PMID:24001601|PMID:25741868|PMID:27794444|PMID:28492532|PMID:30315939|PMID:30859180|PMID:31069529|PMID:32732225 32730892 LOC117975672 COL4A2 antisense RNA 2 gene DOID:2222 factor X deficiency ISO RGD:5132556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 32730892 LOC117975672 COL4A2 antisense RNA 2 gene DOID:630 genetic disease ISO RGD:5132556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 32730892 LOC117975672 COL4A2 antisense RNA 2 gene DOID:865 vasculitis ISO RGD:5132556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vasculitis PMID:25741868 32730905 LOC117981327 beta-defensin 134 gene DOID:14004 thoracic aortic aneurysm ISO RGD:2302256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:32748548 32730905 LOC117981327 beta-defensin 134 gene DOID:630 genetic disease ISO RGD:2302256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32730905 LOC117981327 beta-defensin 134 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2302256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 32730906 TNFRSF13C TNF receptor superfamily member 13C gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1354073 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 32730906 TNFRSF13C TNF receptor superfamily member 13C gene DOID:0080600 COVID-19 ISO RGD:1354073 D RGD:9068941 20200702 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 32730906 TNFRSF13C TNF receptor superfamily member 13C gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1354073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:25741868|PMID:28492532 32730906 TNFRSF13C TNF receptor superfamily member 13C gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1354073 D RGD:7240710 20200701 OMIM 32730906 TNFRSF13C TNF receptor superfamily member 13C gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1354073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:17576681|PMID:19666484|PMID:21041452|PMID:25741868|PMID:28492532|PMID:9536098 32730906 TNFRSF13C TNF receptor superfamily member 13C gene DOID:12177 common variable immunodeficiency ISO RGD:1354073 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Common Variable Immune Deficiency, Recessive PMID:28492532 32730906 TNFRSF13C TNF receptor superfamily member 13C gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1354073 D RGD:9068941 20200702 RGD PMID:28302172|REF_RGD_ID:32716376 32730906 TNFRSF13C TNF receptor superfamily member 13C gene DOID:630 genetic disease ISO RGD:1354073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32730906 TNFRSF13C TNF receptor superfamily member 13C gene DOID:9000998 Brain Injuries ISO RGD:1354073 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 32730976 FOXE3 forkhead box E3 gene DOID:0060648 anterior segment dysgenesis ISO RGD:1316815 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: Ocular anterior segment dysgenesis PMID:11159941|PMID:16826526|PMID:20140963|PMID:20361012|PMID:24689660|PMID:25741868|PMID:26854927|PMID:28492532|PMID:29314435|PMID:32499604|PMID:34046667 32730976 FOXE3 forkhead box E3 gene DOID:0080606 anterior segment dysgenesis 1 ISO RGD:1316815 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis 1 PMID:28492532 32730976 FOXE3 forkhead box E3 gene DOID:0080607 anterior segment dysgenesis 2 ISO RGD:1316815 D RGD:7240710 20230517 OMIM 32730976 FOXE3 forkhead box E3 gene DOID:0080607 anterior segment dysgenesis 2 ISO RGD:1316815 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 2 PMID:11159941|PMID:20140963|PMID:24689660|PMID:25741868|PMID:26854927|PMID:28492532|PMID:29314435|PMID:34046667 32730976 FOXE3 forkhead box E3 gene DOID:0080685 aortic dissection ISO RGD:1316815 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acute aortic dissection PMID:26854927|PMID:28492532|PMID:29314435 32730976 FOXE3 forkhead box E3 gene DOID:0110230 cataract 34 multiple types ISO RGD:1316815 D RGD:7240710 20230517 OMIM 32730976 FOXE3 forkhead box E3 gene DOID:0110230 cataract 34 multiple types ISO RGD:1316815 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CATARACT 34, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 34 multiple types PMID:17893665|PMID:25741868|PMID:27218149|PMID:28492532|PMID:34046667 32730976 FOXE3 forkhead box E3 gene DOID:11367 congenital aphakia ISO RGD:1316815 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital primary aphakia PMID:11159941|PMID:11980846|PMID:16826526|PMID:17893665|PMID:19708017|PMID:20140963|PMID:20361012|PMID:20806047|PMID:21150893|PMID:24033266|PMID:24033328|PMID:24689660|PMID:25148791|PMID:25504734|PMID:25741868|PMID:26854927|PMID:26995144|PMID:27218149|PMID:28492532|PMID:29136273|PMID:29314435|PMID:29878917|PMID:32499604|PMID:32976546|PMID:34046667|PMID:3550563 32730976 FOXE3 forkhead box E3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1316815 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:26854927|PMID:28492532|PMID:29314435 32730976 FOXE3 forkhead box E3 gene DOID:630 genetic disease ISO RGD:1316815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29136273|PMID:34046667 32730976 FOXE3 forkhead box E3 gene DOID:9005838 Familial Thoracic Aortic Aneurysm 11 ISO RGD:1316815 D RGD:7240710 20230517 OMIM 32730976 FOXE3 forkhead box E3 gene DOID:9005838 Familial Thoracic Aortic Aneurysm 11 ISO RGD:1316815 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 11, susceptibility to PMID:25741868|PMID:26854927|PMID:28492532 32730976 FOXE3 forkhead box E3 gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:1316815 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:26854927|PMID:28492532|PMID:29314435 32730976 FOXE3 forkhead box E3 gene DOID:9008804 Aphakia ISO RGD:1316815 D RGD:9068941 20200702 RGD DNA:nonsense mutation:cds:p.C240X (human) PMID:16826526|REF_RGD_ID:1598956 32731000 LOC117981348 defensin beta 4A gene DOID:10459 common cold ISO RGD:1348794 D RGD:9068941 20200702 RGD mRNA, protein:increased expression:nasal cavity epithelium, nasal mucus PMID:15034083|REF_RGD_ID:4892264 32731000 LOC117981348 defensin beta 4A gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:1348794 D RGD:9068941 20200702 RGD protein:increased expression:respiratory system fluid/secretion PMID:17000097|REF_RGD_ID:4892262 32731000 LOC117981348 defensin beta 4A gene DOID:13406 pulmonary sarcoidosis ISO RGD:1348794 D RGD:9068941 20200702 RGD protein:increased expression:serum PMID:17000097|REF_RGD_ID:4892262 32731000 LOC117981348 defensin beta 4A gene DOID:1485 cystic fibrosis ISO RGD:1348794 D RGD:9068941 20200702 RGD protein:increased expression:respiratory system fluid/secretion PMID:9843998|REF_RGD_ID:4892267 32731000 LOC117981348 defensin beta 4A gene DOID:3770 pulmonary fibrosis ISO RGD:1348794 D RGD:9068941 20200702 RGD protein:increased expression:serum PMID:17000097|REF_RGD_ID:4892262 32731000 LOC117981348 defensin beta 4A gene DOID:630 genetic disease ISO RGD:1348794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32731000 LOC117981348 defensin beta 4A gene DOID:850 lung disease ISO RGD:1348794 D RGD:9068941 20200702 RGD protein:increased expression:respiratory system fluid/secretion PMID:9843998|REF_RGD_ID:4892267 32731000 LOC117981348 defensin beta 4A gene DOID:874 bacterial pneumonia ISO RGD:1348794 D RGD:9068941 20200702 RGD protein:increased expression:plasma PMID:10213993|REF_RGD_ID:4892266 32731000 LOC117981348 defensin beta 4A gene DOID:9001415 Mycobacterium Infections ISO RGD:1348794 D RGD:9068941 20200702 RGD protein:increased expression:plasma, respiratory system fluid/secretion PMID:11296379|REF_RGD_ID:4892261 32731000 LOC117981348 defensin beta 4A gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1348794 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:24894820 32731000 LOC117981348 defensin beta 4A gene DOID:9005446 Mandibular Neoplasms ISO RGD:1348794 D RGD:9068941 20200702 RGD protein:increased expression:respiratory system fluid/secretion PMID:11934727|REF_RGD_ID:4892265 32731030 ZNF705A zinc finger protein 705A gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1605174 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 32731030 ZNF705A zinc finger protein 705A gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1605174 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 32731030 ZNF705A zinc finger protein 705A gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1605174 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 32731030 ZNF705A zinc finger protein 705A gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1605174 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 32731030 ZNF705A zinc finger protein 705A gene DOID:0111621 Temtamy syndrome ISO RGD:1605174 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 32731030 ZNF705A zinc finger protein 705A gene DOID:630 genetic disease ISO RGD:1605174 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32731030 ZNF705A zinc finger protein 705A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1618839 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 32731030 ZNF705A zinc finger protein 705A gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1605174 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 32731046 ALDOA aldolase, fructose-bisphosphate A gene DOID:0060019 coronin-1A deficiency ISO RGD:30308195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:28492532 32731046 ALDOA aldolase, fructose-bisphosphate A gene DOID:0060041 autism spectrum disorder ISO RGD:30308195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 32731046 ALDOA aldolase, fructose-bisphosphate A gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:30308195 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 32731046 ALDOA aldolase, fructose-bisphosphate A gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:30308195 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 32731046 ALDOA aldolase, fructose-bisphosphate A gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:30308195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 32731046 ALDOA aldolase, fructose-bisphosphate A gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:30308195 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 32731046 ALDOA aldolase, fructose-bisphosphate A gene DOID:12849 autistic disorder ISO RGD:30308195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32731046 ALDOA aldolase, fructose-bisphosphate A gene DOID:1882 atrial heart septal defect ISO RGD:30308195 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 32731046 ALDOA aldolase, fructose-bisphosphate A gene DOID:3910 lung adenocarcinoma ISO RGD:30308195 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 32731046 ALDOA aldolase, fructose-bisphosphate A gene DOID:5419 schizophrenia ISO RGD:30308195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 32731046 ALDOA aldolase, fructose-bisphosphate A gene DOID:630 genetic disease ISO RGD:30308195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32731046 ALDOA aldolase, fructose-bisphosphate A gene DOID:9000965 Neoplasm Metastasis ISO RGD:30308195 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 32731046 ALDOA aldolase, fructose-bisphosphate A gene DOID:9004009 Reperfusion Injury ISO RGD:2089 D RGD:9068941 20200702 RGD PMID:10395295|REF_RGD_ID:1599061 32731046 ALDOA aldolase, fructose-bisphosphate A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:30308195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 32731046 ALDOA aldolase, fructose-bisphosphate A gene DOID:9004575 Neoplasm Invasiveness ISO RGD:30308195 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:15654357 32731046 ALDOA aldolase, fructose-bisphosphate A gene DOID:9005930 Endotoxemia ISO RGD:2089 D RGD:9068941 20200702 RGD PMID:16930621|REF_RGD_ID:1599054 32731046 ALDOA aldolase, fructose-bisphosphate A gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:30308195 D RGD:7240710 20200701 OMIM 32731046 ALDOA aldolase, fructose-bisphosphate A gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:30308195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOGEN STORAGE DISEASE XII | ClinVar Annotator: match by term: GSD XII | ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:17576681|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25741868|PMID:2825199|PMID:28492532|PMID:8598869|PMID:9536098 32731046 ALDOA aldolase, fructose-bisphosphate A gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:30308195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 32731046 ALDOA aldolase, fructose-bisphosphate A gene DOID:9006646 Metabolic Syndrome ISO RGD:2089 D RGD:9068941 20200702 RGD mRNA:increased expression:aorta PMID:21890532|REF_RGD_ID:13673877 32731046 ALDOA aldolase, fructose-bisphosphate A gene DOID:9007102 Myocardial Ischemia ISO RGD:30308195 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 32731046 ALDOA aldolase, fructose-bisphosphate A gene DOID:9008939 Breast Neoplasms ISO RGD:30308195 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 32731059 LOC117977537 doublesex- and mab-3-related transcription factor C1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:2301775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 32731059 LOC117977537 doublesex- and mab-3-related transcription factor C1 gene DOID:0080509 Cornelia de Lange syndrome 5 ISO RGD:2301775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 PMID:24403048 32731059 LOC117977537 doublesex- and mab-3-related transcription factor C1 gene DOID:12849 autistic disorder ISO RGD:2301775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32731059 LOC117977537 doublesex- and mab-3-related transcription factor C1 gene DOID:8445 intestinal volvulus ISO RGD:2301775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 32731059 LOC117977537 doublesex- and mab-3-related transcription factor C1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:2301775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 32731172 PRR18 proline rich 18 gene DOID:630 genetic disease ISO RGD:1601804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32731188 IFT70A intraflagellar transport 70A gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1603937 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 32731188 IFT70A intraflagellar transport 70A gene DOID:630 genetic disease ISO RGD:1603937 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32731205 FAM25A family with sequence similarity 25 member A gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1347345 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 32731205 FAM25A family with sequence similarity 25 member A gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1347345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 32731205 FAM25A family with sequence similarity 25 member A gene DOID:630 genetic disease ISO RGD:1347345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32731277 CENPA centromere protein A gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1349480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 32731277 CENPA centromere protein A gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1349480 D RGD:9068941 20200730 RGD mRNA:increased expression:lung (human) PMID:30008938|REF_RGD_ID:36947379 32731277 CENPA centromere protein A gene DOID:417 autoimmune disease ISO RGD:1349480 D RGD:9068941 20200730 RGD PMID:10759786|REF_RGD_ID:36947376 32731277 CENPA centromere protein A gene DOID:630 genetic disease ISO RGD:1349480 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32731277 CENPA centromere protein A gene DOID:684 hepatocellular carcinoma ISO RGD:1349480 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 32731277 CENPA centromere protein A gene DOID:684 hepatocellular carcinoma ISO RGD:1349480 D RGD:9068941 20200730 RGD protein:increased expression:liver (human) PMID:21956590|REF_RGD_ID:36947377 32731296 TMEM121 transmembrane protein 121 gene DOID:2661 myoepithelioma ISO RGD:1606775 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 32731296 TMEM121 transmembrane protein 121 gene DOID:630 genetic disease ISO RGD:1606775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32731393 RPL29 ribosomal protein L29 gene DOID:630 genetic disease ISO RGD:737093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32731418 SOX21 SRY-box transcription factor 21 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1312334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 32731418 SOX21 SRY-box transcription factor 21 gene DOID:630 genetic disease ISO RGD:1312334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32731418 SOX21 SRY-box transcription factor 21 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1312334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 32731445 LOC117974268 GRB2-related adapter protein gene DOID:0050777 Joubert syndrome ISO RGD:1353606 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 32731445 LOC117974268 GRB2-related adapter protein gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1353606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 32731445 LOC117974268 GRB2-related adapter protein gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1353606 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 32731445 LOC117974268 GRB2-related adapter protein gene DOID:0111642 autosomal recessive nonsyndromic deafness 114 ISO RGD:1353606 D RGD:7240710 20200701 OMIM 32731445 LOC117974268 GRB2-related adapter protein gene DOID:0111642 autosomal recessive nonsyndromic deafness 114 ISO RGD:1353606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 114 PMID:25741868|PMID:30610177 32731445 LOC117974268 GRB2-related adapter protein gene DOID:12849 autistic disorder ISO RGD:1353606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32731445 LOC117974268 GRB2-related adapter protein gene DOID:630 genetic disease ISO RGD:1353606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32731445 LOC117974268 GRB2-related adapter protein gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1353606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 32731460 RTP5 receptor transporter protein 5 (putative) gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1606110 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 32731460 RTP5 receptor transporter protein 5 (putative) gene DOID:1059 intellectual disability ISO RGD:1606110 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Intellectual disability 32731460 RTP5 receptor transporter protein 5 (putative) gene DOID:630 genetic disease ISO RGD:1606110 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32731554 DAND5 DAN domain BMP antagonist family member 5 gene DOID:0050545 visceral heterotaxy ISO RGD:1342724 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Situs ambiguus PMID:25741868 32731554 DAND5 DAN domain BMP antagonist family member 5 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1342724 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 32731554 DAND5 DAN domain BMP antagonist family member 5 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1342724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 32731554 DAND5 DAN domain BMP antagonist family member 5 gene DOID:0111254 glutaric acidemia I ISO RGD:1342724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 32731554 DAND5 DAN domain BMP antagonist family member 5 gene DOID:3413 alpha-mannosidosis ISO RGD:1342724 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 32731554 DAND5 DAN domain BMP antagonist family member 5 gene DOID:630 genetic disease ISO RGD:1342724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32731554 DAND5 DAN domain BMP antagonist family member 5 gene DOID:758 situs inversus ISO RGD:1342724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence PMID:25741868 32731567 SOX7 SRY-box transcription factor 7 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1320708 D RGD:9068941 20220825 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 32731567 SOX7 SRY-box transcription factor 7 gene DOID:630 genetic disease ISO RGD:1320707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32731567 SOX7 SRY-box transcription factor 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 32731577 BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 gene DOID:0060546 Hermansky-Pudlak syndrome 8 ISO RGD:1321173 D RGD:7240710 20200701 OMIM 32731577 BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 gene DOID:0060546 Hermansky-Pudlak syndrome 8 ISO RGD:1321173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 8 PMID:16385460|PMID:22709368|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29345414 32731577 BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1321173 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 32731577 BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1321173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:25741868|PMID:31064749 32731577 BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 gene DOID:630 genetic disease ISO RGD:1321173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 32731625 C4A complement C4A (Rodgers blood group) gene DOID:0050553 JMP syndrome ISO RGD:1350864 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 32731625 C4A complement C4A (Rodgers blood group) gene DOID:0060297 complement component 4A deficiency ISO RGD:1350864 D RGD:7240710 20230505 OMIM 32731625 C4A complement C4A (Rodgers blood group) gene DOID:0060297 complement component 4A deficiency ISO RGD:1350864 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Complement component 4a deficiency PMID:2295875|PMID:25741868|PMID:8473511 32731625 C4A complement C4A (Rodgers blood group) gene DOID:12306 vitiligo ISO RGD:1350864 D RGD:9068941 20230427 RGD associated with Graves Disease PMID:21943165|REF_RGD_ID:5688264 32731625 C4A complement C4A (Rodgers blood group) gene DOID:12361 Graves' disease ISO RGD:1350864 D RGD:9068941 20230427 RGD PMID:21943165|REF_RGD_ID:5688264 32731625 C4A complement C4A (Rodgers blood group) gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1350864 D RGD:9068941 20230427 RGD PMID:19150565|REF_RGD_ID:5688259 32731625 C4A complement C4A (Rodgers blood group) gene DOID:612 primary immunodeficiency disease ISO RGD:1350864 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:8473511 32731625 C4A complement C4A (Rodgers blood group) gene DOID:630 genetic disease ISO RGD:1350864 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32731625 C4A complement C4A (Rodgers blood group) gene DOID:9005941 Rhinosinusitis disease_progression ISO RGD:1350864 D RGD:9068941 20230427 RGD DNA:deletion: : PMID:16879240|REF_RGD_ID:5688262 32731625 C4A complement C4A (Rodgers blood group) gene DOID:9074 systemic lupus erythematosus ISO RGD:1350864 D RGD:9068941 20230427 RGD PMID:17503323|REF_RGD_ID:5688260 32731628 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:0050572 cone-rod dystrophy ISO RGD:1345435 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868 32731628 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:0110731 neuronal ceroid lipofuscinosis 3 ISO RGD:1345435 D RGD:7240710 20230505 OMIM 32731628 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:0110731 neuronal ceroid lipofuscinosis 3 ISO RGD:1345435 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: CLN3-Related Neuronal Ceroid-Lipofuscinosis | ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 3, protracted | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 3 | ClinVar Annotator: match by term: Spielmeyer Sjogren disease PMID:10332042|PMID:10749980|PMID:10924275|PMID:11339651|PMID:11589014|PMID:12189165|PMID:14699076|PMID:16199547|PMID:16291725|PMID:17475770|PMID:17576681|PMID:17868323|PMID:17947292|PMID:18414213|PMID:19132115|PMID:19135632|PMID:19489875|PMID:20187884|PMID:20301601|PMID:21228398|PMID:21499717|PMID:21990111|PMID:22013180|PMID:22545070|PMID:22748208|PMID:23142271|PMID:23374165|PMID:23539563|PMID:23847139|PMID:24154662|PMID:24271013|PMID:24625443|PMID:24827497|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26467025|PMID:26633542|PMID:26766544|PMID:27104957|PMID:27290639|PMID:27486012|PMID:27843123|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28542676|PMID:28559085|PMID:29049447|PMID:29053603|PMID:29343940|PMID:29753273|PMID:30446867|PMID:30769084|PMID:31568712|PMID:31736247|PMID:32037395|PMID:32154056|PMID:32441891|PMID:32581362|PMID:32685355|PMID:33497524|PMID:33507216|PMID:33921607|PMID:7553855|PMID:7887420|PMID:9004140|PMID:9311735|PMID:9392580|PMID:9450775|PMID:9536098|PMID:9618513|PMID:9932957 32731628 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:0111446 progressive myoclonus epilepsy 3 ISO RGD:1345435 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 PMID:25741868|PMID:28492532 32731628 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:10584 retinitis pigmentosa ISO RGD:1345435 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10332042|PMID:17576681|PMID:17947292|PMID:19132115|PMID:21990111|PMID:22013180|PMID:24154662|PMID:25741868|PMID:26766544|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28542676|PMID:28559085|PMID:29049447|PMID:31568712|PMID:32581362|PMID:32685355|PMID:33507216|PMID:7553855|PMID:9311735|PMID:9536098 32731628 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:1059 intellectual disability ISO RGD:1345435 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:33507216 32731628 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1345435 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10332042|PMID:10749980|PMID:10924275|PMID:11339651|PMID:11589014|PMID:12189165|PMID:15818814|PMID:16199547|PMID:16291725|PMID:17475770|PMID:17576681|PMID:17868323|PMID:17947292|PMID:18414213|PMID:19132115|PMID:19135632|PMID:19489875|PMID:20187884|PMID:21228398|PMID:21499717|PMID:21990111|PMID:22013180|PMID:22545070|PMID:22748208|PMID:23142271|PMID:23374165|PMID:23539563|PMID:23847139|PMID:24154662|PMID:24271013|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26467025|PMID:26633542|PMID:26766544|PMID:27104957|PMID:27290639|PMID:27486012|PMID:27533158|PMID:27843123|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28542676|PMID:28559085|PMID:29049447|PMID:29053603|PMID:29343940|PMID:29753273|PMID:30446867|PMID:30769084|PMID:31568712|PMID:31736247|PMID:32037395|PMID:32154056|PMID:32441891|PMID:32581362|PMID:32631363|PMID:32685355|PMID:33497524|PMID:33507216|PMID:33921607|PMID:7553855|PMID:9311735|PMID:9450775|PMID:9536098|PMID:9618513|PMID:9932957 32731628 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:5419 schizophrenia ISO RGD:1345435 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 32731628 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:630 genetic disease ISO RGD:1345435 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10332042|PMID:16199547|PMID:16291725|PMID:17576681|PMID:18414213|PMID:19132115|PMID:19135632|PMID:21499717|PMID:21990111|PMID:22013180|PMID:22545070|PMID:23142271|PMID:24154662|PMID:24271013|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27290639|PMID:27486012|PMID:27843123|PMID:28492532|PMID:28542676|PMID:31568712|PMID:32037395|PMID:9311735|PMID:9450775|PMID:9536098 32731628 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:8501 fundus dystrophy ISO RGD:1345435 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10332042|PMID:16291725|PMID:18414213|PMID:19132115|PMID:19135632|PMID:21499717|PMID:21990111|PMID:22545070|PMID:24154662|PMID:25741868|PMID:26766544|PMID:27486012|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28542676|PMID:28559085|PMID:29049447|PMID:32581362|PMID:32685355|PMID:33507216|PMID:9311735|PMID:9450775 32731628 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:891 progressive myoclonus epilepsy ISO RGD:1345435 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive PMID:17576681|PMID:25741868|PMID:26467025|PMID:27843123|PMID:28041643|PMID:28492532|PMID:28542676|PMID:9536098 32731628 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:9000217 Stomach Neoplasms ISO RGD:1345435 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 32731628 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:9000918 Disease Progression ISO RGD:1345435 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 32731670 LOC117980870 vacuolar fusion protein CCZ1 homolog B gene DOID:0070271 Lynch syndrome 1 ISO RGD:1315007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868|PMID:36647049 32731670 LOC117980870 vacuolar fusion protein CCZ1 homolog B gene DOID:3883 Lynch syndrome ISO RGD:1315007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:10037723|PMID:16338176|PMID:20533529|PMID:21618646|PMID:24440087|PMID:26318770|PMID:28492532 32731670 LOC117980870 vacuolar fusion protein CCZ1 homolog B gene DOID:630 genetic disease ISO RGD:1315007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32731758 TMEM158 transmembrane protein 158 gene DOID:630 genetic disease ISO RGD:733049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32731795 LOC117974279 keratin-associated protein 4-3 gene DOID:630 genetic disease ISO RGD:1344789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32731818 UPK3BL1 uroplakin 3B like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2801955 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 32731818 UPK3BL1 uroplakin 3B like 1 gene DOID:630 genetic disease ISO RGD:2801955 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32731851 SNTB2 syntrophin beta 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1318541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 32731851 SNTB2 syntrophin beta 2 gene DOID:630 genetic disease ISO RGD:1318541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32731863 TMEM200B transmembrane protein 200B gene DOID:630 genetic disease ISO RGD:1606080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32731885 HMX1 H6 family homeobox 1 gene DOID:0060482 oculoauricular syndrome ISO RGD:1312652 D RGD:7240710 20200701 OMIM 32731885 HMX1 H6 family homeobox 1 gene DOID:0060482 oculoauricular syndrome ISO RGD:1312652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculoauricular syndrome PMID:18423520|PMID:25574057|PMID:25741868|PMID:28492532 32731885 HMX1 H6 family homeobox 1 gene DOID:10629 microphthalmia ISO RGD:1312652 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:19379485 32731885 HMX1 H6 family homeobox 1 gene DOID:630 genetic disease ISO RGD:1312652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 32731885 HMX1 H6 family homeobox 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1312652 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:19379485 32731910 DACT2 dishevelled binding antagonist of beta catenin 2 gene DOID:630 genetic disease ISO RGD:1321823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32731910 DACT2 dishevelled binding antagonist of beta catenin 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1321823 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 32731932 CNDP2 carnosine dipeptidase 2 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1314094 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 32731932 CNDP2 carnosine dipeptidase 2 gene DOID:1059 intellectual disability ISO RGD:1314094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 32731932 CNDP2 carnosine dipeptidase 2 gene DOID:630 genetic disease ISO RGD:1314094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32731932 CNDP2 carnosine dipeptidase 2 gene DOID:6420 pulmonary valve stenosis ISO RGD:1314094 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 32731932 CNDP2 carnosine dipeptidase 2 gene DOID:8445 intestinal volvulus ISO RGD:1314094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 32731932 CNDP2 carnosine dipeptidase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1314094 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:21573905 32731932 CNDP2 carnosine dipeptidase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 32731932 CNDP2 carnosine dipeptidase 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1314094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 32731932 CNDP2 carnosine dipeptidase 2 gene DOID:9452 fatty liver disease ISO RGD:1314094 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 32731936 INAFM1 InaF motif containing 1 gene DOID:630 genetic disease ISO RGD:3518440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32731940 KBTBD11 kelch repeat and BTB domain containing 11 gene DOID:630 genetic disease ISO RGD:1604839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32731940 KBTBD11 kelch repeat and BTB domain containing 11 gene DOID:684 hepatocellular carcinoma ISO RGD:1604839 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 32731944 ZNF585A zinc finger protein 585A gene DOID:630 genetic disease ISO RGD:1604726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32731946 LOC117977691 polyadenylate-binding protein 1-like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 32731946 LOC117977691 polyadenylate-binding protein 1-like 2 gene DOID:0080509 Cornelia de Lange syndrome 5 ISO RGD:1603498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 PMID:24403048 32731946 LOC117977691 polyadenylate-binding protein 1-like 2 gene DOID:12849 autistic disorder ISO RGD:1603498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32731946 LOC117977691 polyadenylate-binding protein 1-like 2 gene DOID:630 genetic disease ISO RGD:1603498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32731987 LOC117976696 keratin-associated protein 4-6 gene DOID:630 genetic disease ISO RGD:1346065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732038 AGAP5 ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 gene DOID:630 genetic disease ISO RGD:1348213 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732056 TPGS1 tubulin polyglutamylase complex subunit 1 gene DOID:630 genetic disease ISO RGD:1323455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732059 C16H16orf87 chromosome 16 C16orf87 homolog gene DOID:0111041 glycogen storage disease IXb ISO RGD:1604693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 32732066 RUBCNL rubicon like autophagy enhancer gene DOID:10283 prostate cancer ISO RGD:1312654 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 32732066 RUBCNL rubicon like autophagy enhancer gene DOID:630 genetic disease ISO RGD:1312654 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732070 CDR2 cerebellar degeneration related protein 2 gene DOID:0080114 mitochondrial complex III deficiency nuclear type 5 ISO RGD:1321565 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 5 PMID:25741868 32732070 CDR2 cerebellar degeneration related protein 2 gene DOID:12849 autistic disorder ISO RGD:1321565 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32732070 CDR2 cerebellar degeneration related protein 2 gene DOID:5419 schizophrenia ISO RGD:1321565 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 32732070 CDR2 cerebellar degeneration related protein 2 gene DOID:630 genetic disease ISO RGD:1321565 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732089 LOC117981758 NUT family member 2G gene DOID:1059 intellectual disability ISO RGD:1351697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 32732089 LOC117981758 NUT family member 2G gene DOID:630 genetic disease ISO RGD:1351697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732122 B3GNT7 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 gene DOID:0060476 Perlman syndrome ISO RGD:1321569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 32732122 B3GNT7 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1321569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 32732122 B3GNT7 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 gene DOID:630 genetic disease ISO RGD:1321569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732127 TRIM49B tripartite motif containing 49B gene DOID:1059 intellectual disability ISO RGD:6483615 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Intellectual disability 32732127 TRIM49B tripartite motif containing 49B gene DOID:630 genetic disease ISO RGD:6483615 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732145 LOC117975530 proline-rich protein 20E gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:3322124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 32732145 LOC117975530 proline-rich protein 20E gene DOID:1059 intellectual disability ISO RGD:3322124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 32732176 LOC117981344 beta-defensin 104A gene DOID:630 genetic disease ISO RGD:1352811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732179 MNX1 motor neuron and pancreas homeobox 1 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1344566 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:22354285|PMID:22683912|PMID:23370340|PMID:24095820|PMID:28284480|PMID:28492532|PMID:28588853|PMID:29983323|PMID:29992659|PMID:31334757|PMID:32677110 32732179 MNX1 motor neuron and pancreas homeobox 1 gene DOID:0111546 Currarino syndrome ISO RGD:1344566 D RGD:7240710 20200701 OMIM 32732179 MNX1 motor neuron and pancreas homeobox 1 gene DOID:0111546 Currarino syndrome ISO RGD:1344566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:10631160|PMID:10749657|PMID:11528505|PMID:16906559|PMID:18449898|PMID:24095820|PMID:25741868|PMID:28492532|PMID:29401559|PMID:32571425|PMID:33836786|PMID:7550324|PMID:9843207 32732179 MNX1 motor neuron and pancreas homeobox 1 gene DOID:12849 autistic disorder ISO RGD:1344566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32732179 MNX1 motor neuron and pancreas homeobox 1 gene DOID:630 genetic disease ISO RGD:1344566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29401559 32732224 VMP1 vacuole membrane protein 1 gene DOID:0050777 Joubert syndrome ISO RGD:731420 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 32732224 VMP1 vacuole membrane protein 1 gene DOID:630 genetic disease ISO RGD:731420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732224 VMP1 vacuole membrane protein 1 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:731420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 32732230 MRPS28 mitochondrial ribosomal protein S28 gene DOID:0112114 combined oxidative phosphorylation deficiency 47 ISO RGD:1313591 D RGD:7240710 20200812 OMIM 32732230 MRPS28 mitochondrial ribosomal protein S28 gene DOID:0112114 combined oxidative phosphorylation deficiency 47 ISO RGD:1313591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 47 PMID:30566640 32732230 MRPS28 mitochondrial ribosomal protein S28 gene DOID:630 genetic disease ISO RGD:1313591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732230 MRPS28 mitochondrial ribosomal protein S28 gene DOID:9008939 Breast Neoplasms ISO RGD:1313591 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 32732273 LRIG2 leucine rich repeats and immunoglobulin like domains 2 gene DOID:0050816 urofacial syndrome ISO RGD:1319957 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism 32732273 LRIG2 leucine rich repeats and immunoglobulin like domains 2 gene DOID:0080690 RASopathy ISO RGD:1319957 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 32732273 LRIG2 leucine rich repeats and immunoglobulin like domains 2 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1319957 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 32732273 LRIG2 leucine rich repeats and immunoglobulin like domains 2 gene DOID:13938 amenorrhea ISO RGD:1319957 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 32732273 LRIG2 leucine rich repeats and immunoglobulin like domains 2 gene DOID:630 genetic disease ISO RGD:1319957 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 32732273 LRIG2 leucine rich repeats and immunoglobulin like domains 2 gene DOID:9000436 Urofacial Syndrome 2 ISO RGD:1319957 D RGD:7240710 20230505 OMIM 32732273 LRIG2 leucine rich repeats and immunoglobulin like domains 2 gene DOID:9000436 Urofacial Syndrome 2 ISO RGD:1319957 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Urofacial syndrome 2 PMID:23313374|PMID:25741868 32732273 LRIG2 leucine rich repeats and immunoglobulin like domains 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1319957 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741906 32732283 SMIM12 small integral membrane protein 12 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 32732283 SMIM12 small integral membrane protein 12 gene DOID:630 genetic disease ISO RGD:1606189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732336 LOC117975341 complement factor H-related protein 3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1342616 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:16998489|PMID:17367211|PMID:18006700|PMID:19745068|PMID:20843825|PMID:25741868|PMID:28492532|PMID:31932840 32732336 LOC117975341 complement factor H-related protein 3 gene DOID:0080301 atypical hemolytic-uremic syndrome susceptibility ISO RGD:1342616 D RGD:7240710 20230517 OMIM 32732336 LOC117975341 complement factor H-related protein 3 gene DOID:0110014 age related macular degeneration 1 ISO RGD:1342616 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 1 | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 1 PMID:25741868|PMID:28492532 32732336 LOC117975341 complement factor H-related protein 3 gene DOID:0110014 age related macular degeneration 1 susceptibility ISO RGD:1342616 D RGD:7240710 20230517 OMIM 32732336 LOC117975341 complement factor H-related protein 3 gene DOID:10871 age related macular degeneration ISO RGD:1342616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Age-related macular degeneration PMID:16998489|PMID:17367211|PMID:18006700|PMID:20843825 32732336 LOC117975341 complement factor H-related protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1342616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 32732336 LOC117975341 complement factor H-related protein 3 gene DOID:2986 IgA glomerulonephritis ISO RGD:1342616 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:21399633 32732336 LOC117975341 complement factor H-related protein 3 gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:1342616 D RGD:9068941 20220303 RGD protein:decreased expression:blood (human) PMID:32663515|REF_RGD_ID:151660329 32732336 LOC117975341 complement factor H-related protein 3 gene DOID:557 kidney disease ISO RGD:1342616 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 32732336 LOC117975341 complement factor H-related protein 3 gene DOID:630 genetic disease ISO RGD:1342616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732336 LOC117975341 complement factor H-related protein 3 gene DOID:9008366 Meningococcal Infections ISO RGD:1342616 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:20694013 32732336 LOC117975341 complement factor H-related protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1342616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 32732350 RPP25 ribonuclease P and MRP subunit p25 gene DOID:12849 autistic disorder ISO RGD:1313231 D RGD:9068941 20200702 RGD mRNA:decreased expression:prefrontal cortex PMID:20632321|REF_RGD_ID:9743931 32732350 RPP25 ribonuclease P and MRP subunit p25 gene DOID:2717 Bloom syndrome ISO RGD:1313231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 32732350 RPP25 ribonuclease P and MRP subunit p25 gene DOID:5419 schizophrenia ISO RGD:1313231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 32732350 RPP25 ribonuclease P and MRP subunit p25 gene DOID:630 genetic disease ISO RGD:1313231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732350 RPP25 ribonuclease P and MRP subunit p25 gene DOID:9256 colorectal cancer ISO RGD:1313231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 32732363 RHBDL1 rhomboid like 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1347230 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 32732363 RHBDL1 rhomboid like 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1347230 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 32732363 RHBDL1 rhomboid like 1 gene DOID:1826 epilepsy ISO RGD:1347230 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 32732363 RHBDL1 rhomboid like 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1347230 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 32732371 AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1349110 D RGD:9068941 20200702 RGD PMID:26464646|REF_RGD_ID:11526681 32732371 AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 gene DOID:10283 prostate cancer ISO RGD:1349110 D RGD:9068941 20200702 RGD PMID:19176382|REF_RGD_ID:13838848 32732371 AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 gene DOID:630 genetic disease ISO RGD:1349110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732371 AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 gene DOID:6846 familial melanoma ISO RGD:1349110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 32732371 AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 gene DOID:9007090 Experimental Seizures ISO RGD:1619007 D RGD:9068941 20200702 RGD PMID:21925531|REF_RGD_ID:13838850 32732371 AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 gene DOID:9008023 Memory Disorders ISO RGD:1619007 D RGD:9068941 20200702 RGD PMID:21632930|REF_RGD_ID:13838852 32732371 AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1619007 D RGD:9068941 20200702 RGD PMID:20068140|REF_RGD_ID:13838849 32732371 AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 gene DOID:9970 obesity ISO RGD:1619007 D RGD:9068941 20200702 RGD PMID:20068140|REF_RGD_ID:13838849 32732387 LOC117980981 zinc finger protein 479 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 32732387 LOC117980981 zinc finger protein 479 gene DOID:630 genetic disease ISO RGD:1353288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732448 OPN4 opsin 4 gene DOID:630 genetic disease ISO RGD:1349299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732465 LCE5A late cornified envelope 5A gene DOID:0111940 immunodeficiency 42 ISO RGD:1352803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 32732465 LCE5A late cornified envelope 5A gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1352803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 32732465 LCE5A late cornified envelope 5A gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1352803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 32732465 LCE5A late cornified envelope 5A gene DOID:1540 parathyroid carcinoma ISO RGD:1352803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 32732465 LCE5A late cornified envelope 5A gene DOID:5812 MHC class II deficiency ISO RGD:1352803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 32732465 LCE5A late cornified envelope 5A gene DOID:630 genetic disease ISO RGD:1352803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732465 LCE5A late cornified envelope 5A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 32732480 LOC100970768 T-cell receptor gamma alternate reading frame protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 32732480 LOC100970768 T-cell receptor gamma alternate reading frame protein gene DOID:630 genetic disease ISO RGD:1604885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732484 FOXD2 forkhead box D2 gene DOID:630 genetic disease ISO RGD:1312200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732496 RABL2A RAB, member of RAS oncogene family like 2A gene DOID:630 genetic disease ISO RGD:1315545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732525 SMIM40 small integral membrane protein 40 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:14700595 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 32732538 TPBGL trophoblast glycoprotein like gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:6770651 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 32732538 TPBGL trophoblast glycoprotein like gene DOID:1059 intellectual disability ISO RGD:6770651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 32732538 TPBGL trophoblast glycoprotein like gene DOID:630 genetic disease ISO RGD:6770651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732548 FOXD3 forkhead box D3 gene DOID:0080415 developmental and epileptic encephalopathy 23 ISO RGD:1347778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 PMID:28492532 32732548 FOXD3 forkhead box D3 gene DOID:1059 intellectual disability ISO RGD:1347778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 32732548 FOXD3 forkhead box D3 gene DOID:12306 vitiligo ISO RGD:1347778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune disease, susceptibility to, 1 PMID:16098053 32732548 FOXD3 forkhead box D3 gene DOID:12306 vitiligo susceptibility ISO RGD:1347778 D RGD:7240710 20200701 OMIM 32732548 FOXD3 forkhead box D3 gene DOID:1686 glaucoma ISO RGD:1347778 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (human) PMID:28990066|REF_RGD_ID:155630605 32732548 FOXD3 forkhead box D3 gene DOID:630 genetic disease ISO RGD:1347778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732553 RBMXL1 RBMX like 1 gene DOID:630 genetic disease ISO RGD:1603234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732555 NPB neuropeptide B gene DOID:11612 polycystic ovary syndrome ISO RGD:736156 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 32732555 NPB neuropeptide B gene DOID:630 genetic disease ISO RGD:736156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732569 FOXC1 forkhead box C1 gene DOID:0060648 anterior segment dysgenesis ISO RGD:1353830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:28492532|PMID:28513611|PMID:32499604 32732569 FOXC1 forkhead box C1 gene DOID:0080205 CAKUT ISO RGD:1353830 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:25741868|PMID:28492532|PMID:30143558|PMID:32475988 32732569 FOXC1 forkhead box C1 gene DOID:0080608 anterior segment dysgenesis 3 ISO RGD:1353830 D RGD:7240710 20200701 OMIM 32732569 FOXC1 forkhead box C1 gene DOID:0080608 anterior segment dysgenesis 3 ISO RGD:1353830 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis 3 | ClinVar Annotator: match by term: Glaucoma iridogoniodysplasia, familial PMID:11007653|PMID:11170889|PMID:12036988|PMID:19668217|PMID:19793056|PMID:25741868|PMID:28492532|PMID:30143558|PMID:32475988|PMID:32832252|PMID:9620769|PMID:9792859 32732569 FOXC1 forkhead box C1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1620902 D RGD:9068941 20200702 RGD PMID:20976766|REF_RGD_ID:12904052 32732569 FOXC1 forkhead box C1 gene DOID:0110120 Axenfeld-Rieger syndrome type 1 ISO RGD:1353830 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:14630904 32732569 FOXC1 forkhead box C1 gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1353830 D RGD:7240710 20200701 OMIM 32732569 FOXC1 forkhead box C1 gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1353830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: AXENFELD-RIEGER ANOMALY WITH CARDIAC DEFECTS AND/OR SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:10713890|PMID:11170889|PMID:11740218|PMID:11782474|PMID:12592227|PMID:12614756|PMID:14506133|PMID:14578375|PMID:15277473|PMID:16638984|PMID:16936096|PMID:17013732|PMID:17197537|PMID:17210863|PMID:18498376|PMID:19279310|PMID:19513095|PMID:19668217|PMID:19793056|PMID:20881294|PMID:22382802|PMID:22569110|PMID:23239455|PMID:24556684|PMID:24914578|PMID:25741868|PMID:25786029|PMID:25967385|PMID:28432732|PMID:28492532|PMID:28513611|PMID:28979898|PMID:30143558|PMID:30457409|PMID:30653986|PMID:31836490|PMID:32295643|PMID:32475988|PMID:32499604|PMID:32631953|PMID:35882526|PMID:9326342|PMID:9620769|PMID:9792859 32732569 FOXC1 forkhead box C1 gene DOID:1067 open-angle glaucoma ISO RGD:1353830 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:26752265 32732569 FOXC1 forkhead box C1 gene DOID:1068 juvenile glaucoma ISO RGD:1353830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma of childhood PMID:32832252 32732569 FOXC1 forkhead box C1 gene DOID:10908 hydrocephalus ISO RGD:1620902 D RGD:9068941 20200702 RGD PMID:9635428|REF_RGD_ID:8662364 32732569 FOXC1 forkhead box C1 gene DOID:11211 buphthalmos ISO RGD:1620902 D RGD:9068941 20220825 MouseDO OMIM:231300 32732569 FOXC1 forkhead box C1 gene DOID:12271 aniridia ISO RGD:1353830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 32732569 FOXC1 forkhead box C1 gene DOID:14686 Axenfeld-Rieger syndrome ISO RGD:1353830 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Axenfeld-rieger anomaly with or without cardiac defects and/or sensorineural hearing loss PMID:25741868|PMID:28492532|PMID:30143558|PMID:32475988 32732569 FOXC1 forkhead box C1 gene DOID:1686 glaucoma ISO RGD:1353830 D RGD:9068941 20200702 RGD associated with Axenfeld-Rieger Syndrome;DNA:mutation:cds:p.Q120X(human) PMID:18498376|REF_RGD_ID:12904045 32732569 FOXC1 forkhead box C1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1353830 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:19668217 32732569 FOXC1 forkhead box C1 gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1353830 D RGD:9068941 20200702 RGD PMID:21424368|REF_RGD_ID:8662363 32732569 FOXC1 forkhead box C1 gene DOID:6000 congestive heart failure ISO RGD:1353830 D RGD:9068941 20200702 RGD PMID:16952980|REF_RGD_ID:1582564 32732569 FOXC1 forkhead box C1 gene DOID:630 genetic disease ISO RGD:1353830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 32732569 FOXC1 forkhead box C1 gene DOID:6419 tetralogy of Fallot ISO RGD:1353830 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:25093829 32732569 FOXC1 forkhead box C1 gene DOID:9000045 De Hauwere syndrome ISO RGD:1353830 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities PMID:25741868 32732569 FOXC1 forkhead box C1 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1353830 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:19668217 32732569 FOXC1 forkhead box C1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353830 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 32732569 FOXC1 forkhead box C1 gene DOID:9003133 Hypertelorism ISO RGD:1353830 D RGD:9068941 20200702 RGD associated with Axenfeld-Rieger Syndrome;DNA:deletion:cds:437-453del17(human) PMID:17653043|REF_RGD_ID:12904051 32732569 FOXC1 forkhead box C1 gene DOID:9003591 Telecanthus ISO RGD:1353830 D RGD:9068941 20200702 RGD associated with Axenfeld-Rieger Syndrome;DNA:deletion:cds:437-453del17(human) PMID:17653043|REF_RGD_ID:12904051 32732569 FOXC1 forkhead box C1 gene DOID:9004538 Hearing Loss ISO RGD:1353830 D RGD:9068941 20200702 RGD associated with Axenfeld-Rieger Syndrome;DNA:deletion:cds:437-453del17(human) PMID:17653043|REF_RGD_ID:12904051 32732569 FOXC1 forkhead box C1 gene DOID:9005059 Hypertelorism and Tetralogy of Fallot ISO RGD:1353830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism and tetralogy of fallot PMID:25741868 32732569 FOXC1 forkhead box C1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1353830 D RGD:9068941 20200702 RGD DNA, mRNA:increased methylation, decreased expression:breast PMID:20056007|REF_RGD_ID:8662367 32732569 FOXC1 forkhead box C1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1353830 D RGD:9068941 20200702 RGD DNA:increased methylation:promoter PMID:20338046|REF_RGD_ID:8662370 32732569 FOXC1 forkhead box C1 gene DOID:987 alopecia ISO RGD:1353830 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Alopecia, androgenetic, 1 32732593 ERFL ETS repressor factor like gene DOID:5419 schizophrenia ISO RGD:14696661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 32732647 FBXO45 F-box protein 45 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1349858 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 32732647 FBXO45 F-box protein 45 gene DOID:12849 autistic disorder ISO RGD:1349858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32732647 FBXO45 F-box protein 45 gene DOID:5419 schizophrenia ISO RGD:1349858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 32732647 FBXO45 F-box protein 45 gene DOID:630 genetic disease ISO RGD:1349858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732650 SLC5A3 solute carrier family 5 member 3 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:734339 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 32732650 SLC5A3 solute carrier family 5 member 3 gene DOID:0060898 Parkinson's disease 20 ISO RGD:734339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 32732650 SLC5A3 solute carrier family 5 member 3 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:734339 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 32732650 SLC5A3 solute carrier family 5 member 3 gene DOID:1588 thrombocytopenia ISO RGD:734339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 32732650 SLC5A3 solute carrier family 5 member 3 gene DOID:3312 bipolar disorder ISO RGD:734339 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:16420717 32732650 SLC5A3 solute carrier family 5 member 3 gene DOID:3393 coronary artery disease ISO RGD:734339 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 32732650 SLC5A3 solute carrier family 5 member 3 gene DOID:4450 renal cell carcinoma ISO RGD:734339 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 32732650 SLC5A3 solute carrier family 5 member 3 gene DOID:630 genetic disease ISO RGD:734339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732650 SLC5A3 solute carrier family 5 member 3 gene DOID:9005698 ZTTK Syndrome ISO RGD:734339 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 32732656 LOC117974258 uncharacterized LOC117974258 gene DOID:630 genetic disease ISO RGD:16571318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732661 TYW1B tRNA-yW synthesizing protein 1 homolog B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2303834 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 32732661 TYW1B tRNA-yW synthesizing protein 1 homolog B gene DOID:630 genetic disease ISO RGD:2303834 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732661 TYW1B tRNA-yW synthesizing protein 1 homolog B gene DOID:9005747 Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability ISO RGD:2303834 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability PMID:23332918 32732662 VSTM2B V-set and transmembrane domain containing 2B gene DOID:630 genetic disease ISO RGD:1626689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732721 CERS1 ceramide synthase 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1314323 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Situs ambiguus | ClinVar Annotator: match by term: Visceral heterotaxy PMID:17924340|PMID:20413652|PMID:25741868|PMID:28492532|PMID:28991257 32732721 CERS1 ceramide synthase 1 gene DOID:0060772 multiple types of congenital heart defects 6 ISO RGD:1314323 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 6 PMID:14648004|PMID:1792434|PMID:17924340|PMID:17936261|PMID:20413652|PMID:25741868|PMID:28492532|PMID:28991257|PMID:32144877 32732721 CERS1 ceramide synthase 1 gene DOID:0060856 right atrial isomerism ISO RGD:1314323 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Right atrial isomerism PMID:14648004|PMID:1792434|PMID:17924340|PMID:17936261|PMID:20413652|PMID:25741868|PMID:28492532|PMID:28991257|PMID:32144877 32732721 CERS1 ceramide synthase 1 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1314323 D RGD:7240710 20200701 OMIM 32732721 CERS1 ceramide synthase 1 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1314323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:17576681|PMID:17924340|PMID:19243074|PMID:20413652|PMID:24033266|PMID:24782409|PMID:25741868|PMID:28492532|PMID:28991257|PMID:30800706|PMID:9536098 32732721 CERS1 ceramide synthase 1 gene DOID:1682 congenital heart disease ISO RGD:1314323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:28492532|PMID:28991257 32732721 CERS1 ceramide synthase 1 gene DOID:630 genetic disease ISO RGD:1314323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17924340|PMID:25741868|PMID:28492532 32732721 CERS1 ceramide synthase 1 gene DOID:6406 double outlet right ventricle ISO RGD:1314323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Double outlet right ventricle PMID:17924340 32732721 CERS1 ceramide synthase 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1314323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:17924340|PMID:28492532 32732721 CERS1 ceramide synthase 1 gene DOID:758 situs inversus ISO RGD:1314323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence PMID:17924340 32732721 CERS1 ceramide synthase 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1314323 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism 32732721 CERS1 ceramide synthase 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1314323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 32732759 IFI27L1 interferon alpha inducible protein 27 like 1 gene DOID:0080054 achondrogenesis type IA ISO RGD:1347783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 32732759 IFI27L1 interferon alpha inducible protein 27 like 1 gene DOID:0081063 DICER1 syndrome ISO RGD:1347783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 32732759 IFI27L1 interferon alpha inducible protein 27 like 1 gene DOID:630 genetic disease ISO RGD:1347783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732799 LOC117979948 blood group Rh(CE) polypeptide gene DOID:0050641 Rh deficiency syndrome ISO RGD:736735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RhD negative 32732799 LOC117979948 blood group Rh(CE) polypeptide gene DOID:4175 Rh isoimmunization ISO RGD:736735 D RGD:7240710 20210818 OMIM 32732799 LOC117979948 blood group Rh(CE) polypeptide gene DOID:4175 Rh isoimmunization ISO RGD:736735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemolytic disease of fetus OR newborn due to RhD isoimmunization PMID:28639307 32732799 LOC117979948 blood group Rh(CE) polypeptide gene DOID:589 congenital hemolytic anemia ISO RGD:736735 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:9657769 32732799 LOC117979948 blood group Rh(CE) polypeptide gene DOID:630 genetic disease ISO RGD:736735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732824 LOC117975960 golgin subfamily A member 6-like protein 7 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:4107324 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:31690835 32732824 LOC117975960 golgin subfamily A member 6-like protein 7 gene DOID:12849 autistic disorder ISO RGD:4107324 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 32732824 LOC117975960 golgin subfamily A member 6-like protein 7 gene DOID:1932 Angelman syndrome ISO RGD:4107324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome 32732824 LOC117975960 golgin subfamily A member 6-like protein 7 gene DOID:37 skin disease ISO RGD:4107324 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:28720099 32732824 LOC117975960 golgin subfamily A member 6-like protein 7 gene DOID:5419 schizophrenia ISO RGD:4107324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 32732898 RAB6C RAB6C, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1354322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732917 LRRC53 leucine rich repeat containing 53 gene DOID:630 genetic disease ISO RGD:2292704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 32732917 LRRC53 leucine rich repeat containing 53 gene DOID:9000652 Cardiac Conduction Disease with or without Dilated Cardiomyopathy ISO RGD:2292704 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy PMID:25741868|PMID:28492532|PMID:30010057|PMID:34203974 32732956 TMEM14B transmembrane protein 14B gene DOID:0110242 cataract 13 with adult i phenotype ISO RGD:1344544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 13 with adult I phenotype PMID:28492532 32732956 TMEM14B transmembrane protein 14B gene DOID:630 genetic disease ISO RGD:1344544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732968 SIGLEC5 sialic acid binding Ig like lectin 5 gene DOID:630 genetic disease ISO RGD:1313458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732968 SIGLEC5 sialic acid binding Ig like lectin 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313458 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 32732969 LOC117976712 chorionic somatomammotropin hormone 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1352564 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 32732969 LOC117976712 chorionic somatomammotropin hormone 1 gene DOID:14681 Silver-Russell syndrome ISO RGD:1352564 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:14642004 32732969 LOC117976712 chorionic somatomammotropin hormone 1 gene DOID:630 genetic disease ISO RGD:1352564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32732985 ZNF534 zinc finger protein 534 gene DOID:10283 prostate cancer ISO RGD:1604994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 32732985 ZNF534 zinc finger protein 534 gene DOID:630 genetic disease ISO RGD:1604994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32733057 TEX28 testis expressed 28 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1342529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia PMID:28492532 32733057 TEX28 testis expressed 28 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1342529 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 32733057 TEX28 testis expressed 28 gene DOID:0050476 Barth syndrome ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 32733057 TEX28 testis expressed 28 gene DOID:0050800 creatine transporter deficiency ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 32733057 TEX28 testis expressed 28 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 32733057 TEX28 testis expressed 28 gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 32733057 TEX28 testis expressed 28 gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 32733057 TEX28 testis expressed 28 gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 32733057 TEX28 testis expressed 28 gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 32733057 TEX28 testis expressed 28 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 32733057 TEX28 testis expressed 28 gene DOID:0112003 immunodeficiency 33 ISO RGD:1342529 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 32733057 TEX28 testis expressed 28 gene DOID:10588 adrenoleukodystrophy ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 32733057 TEX28 testis expressed 28 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 32733057 TEX28 testis expressed 28 gene DOID:12849 autistic disorder ISO RGD:1342529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32733057 TEX28 testis expressed 28 gene DOID:13628 favism ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 32733057 TEX28 testis expressed 28 gene DOID:2729 dyskeratosis congenita ISO RGD:1342529 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 32733057 TEX28 testis expressed 28 gene DOID:607 paraplegia ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 32733057 TEX28 testis expressed 28 gene DOID:9002720 Splenomegaly ISO RGD:1342529 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 32733057 TEX28 testis expressed 28 gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:15689435|PMID:16080119|PMID:28492532 32733057 TEX28 testis expressed 28 gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 32733080 FGF18 fibroblast growth factor 18 gene DOID:10908 hydrocephalus ISO RGD:737083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 32733080 FGF18 fibroblast growth factor 18 gene DOID:11612 polycystic ovary syndrome ISO RGD:737083 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 32733080 FGF18 fibroblast growth factor 18 gene DOID:1790 malignant mesothelioma ISO RGD:737083 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 32733080 FGF18 fibroblast growth factor 18 gene DOID:3910 lung adenocarcinoma ISO RGD:737083 D RGD:9068941 20220520 RGD mRNA:decreased expression:lung (human) PMID:19296538|REF_RGD_ID:150429981 32733080 FGF18 fibroblast growth factor 18 gene DOID:630 genetic disease ISO RGD:737083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32733080 FGF18 fibroblast growth factor 18 gene DOID:8398 osteoarthritis ISO RGD:737083 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:30664745 32733080 FGF18 fibroblast growth factor 18 gene DOID:9007661 Dwarfism ISO RGD:737083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 32733080 FGF18 fibroblast growth factor 18 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:737083 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:17303798 32733086 RIMBP3C RIMS binding protein 3C gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:2291772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 32733086 RIMBP3C RIMS binding protein 3C gene DOID:11198 DiGeorge syndrome ISO RGD:2291772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 32733086 RIMBP3C RIMS binding protein 3C gene DOID:630 genetic disease ISO RGD:2291772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32733129 FAM90A1 family with sequence similarity 90 member A1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1605664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 32733129 FAM90A1 family with sequence similarity 90 member A1 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1605664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 32733129 FAM90A1 family with sequence similarity 90 member A1 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1605664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 32733129 FAM90A1 family with sequence similarity 90 member A1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1605664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 32733129 FAM90A1 family with sequence similarity 90 member A1 gene DOID:0111621 Temtamy syndrome ISO RGD:1605664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 32733129 FAM90A1 family with sequence similarity 90 member A1 gene DOID:630 genetic disease ISO RGD:1605664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32733129 FAM90A1 family with sequence similarity 90 member A1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1605664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 32733154 HMX2 H6 family homeobox 2 gene DOID:630 genetic disease ISO RGD:1344941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32733154 HMX2 H6 family homeobox 2 gene DOID:9002189 High Myopia ISO RGD:1344941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 32733179 HES4 hes family bHLH transcription factor 4 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1354442 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 32733179 HES4 hes family bHLH transcription factor 4 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1354442 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 32733179 HES4 hes family bHLH transcription factor 4 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1354442 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 32733179 HES4 hes family bHLH transcription factor 4 gene DOID:0111934 immunodeficiency 38 ISO RGD:1354442 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 32733179 HES4 hes family bHLH transcription factor 4 gene DOID:0111935 immunodeficiency 16 ISO RGD:1354442 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 32733179 HES4 hes family bHLH transcription factor 4 gene DOID:630 genetic disease ISO RGD:1354442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32733179 HES4 hes family bHLH transcription factor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 32733179 HES4 hes family bHLH transcription factor 4 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1354442 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 32733190 FZD8 frizzled class receptor 8 gene DOID:630 genetic disease ISO RGD:1350514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32733190 FZD8 frizzled class receptor 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350514 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 32733192 HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 gene DOID:1540 parathyroid carcinoma ISO RGD:735953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 32733192 HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 gene DOID:630 genetic disease ISO RGD:735953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32733192 HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 32733195 ZNF134 zinc finger protein 134 gene DOID:630 genetic disease ISO RGD:1352509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32733214 ZNF768 zinc finger protein 768 gene DOID:630 genetic disease ISO RGD:1605951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32733239 LOC117977046 zinc finger protein 418 gene DOID:630 genetic disease ISO RGD:1353630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32733281 LOC117981341 sperm-associated antigen 11A gene DOID:630 genetic disease ISO RGD:1604666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32733311 ZNF600 zinc finger protein 600 gene DOID:0080600 COVID-19 ISO RGD:1343964 D RGD:9068941 20200702 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 32733311 ZNF600 zinc finger protein 600 gene DOID:630 genetic disease ISO RGD:1343964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32733327 KLK7 kallikrein related peptidase 7 gene DOID:630 genetic disease ISO RGD:1315024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32733367 HRNR hornerin gene DOID:0111940 immunodeficiency 42 ISO RGD:1603472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 32733367 HRNR hornerin gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 32733367 HRNR hornerin gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603472 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 32733367 HRNR hornerin gene DOID:1540 parathyroid carcinoma ISO RGD:1603472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 32733367 HRNR hornerin gene DOID:5812 MHC class II deficiency ISO RGD:1603472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 32733367 HRNR hornerin gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:1603472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy 32733367 HRNR hornerin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 32733379 CCL4L2 C-C motif chemokine ligand 4 like 2 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1354210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:24088041|PMID:26633545 32733379 CCL4L2 C-C motif chemokine ligand 4 like 2 gene DOID:0080600 COVID-19 ISO RGD:1354210 D RGD:9068941 20200702 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 32733379 CCL4L2 C-C motif chemokine ligand 4 like 2 gene DOID:12849 autistic disorder ISO RGD:1354210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32733379 CCL4L2 C-C motif chemokine ligand 4 like 2 gene DOID:526 human immunodeficiency virus infectious disease disease_progression ISO RGD:1354210 D RGD:9068941 20210129 RGD PMID:19279442|REF_RGD_ID:41404638 32733379 CCL4L2 C-C motif chemokine ligand 4 like 2 gene DOID:630 genetic disease ISO RGD:1354210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32733379 CCL4L2 C-C motif chemokine ligand 4 like 2 gene DOID:9002953 Escherichia Coli Infections ISO RGD:1354210 D RGD:9068941 20210129 RGD mRNA:increased expression:brain (rat) PMID:16238536|REF_RGD_ID:5683919 32733379 CCL4L2 C-C motif chemokine ligand 4 like 2 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1354210 D RGD:9068941 20210129 RGD PMID:26147061|REF_RGD_ID:41404637 32733379 CCL4L2 C-C motif chemokine ligand 4 like 2 gene DOID:9004831 Colitis-Associated Neoplasms treatment ISO RGD:1354210 D RGD:9068941 20210129 RGD PMID:26711554|REF_RGD_ID:41404636 32733379 CCL4L2 C-C motif chemokine ligand 4 like 2 gene DOID:9007367 Septic Peritonitis ISO RGD:1354210 D RGD:9068941 20210305 RGD associated with liver cirrhosis;Protein:increased expression:ascitic fluid��(human) PMID:24797975|REF_RGD_ID:42722005 32733379 CCL4L2 C-C motif chemokine ligand 4 like 2 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1354210 D RGD:9068941 20210129 RGD protein:increased expression:blood serum (human) PMID:25808668|REF_RGD_ID:41404635 32733395 LOC117976634 complement factor H-related protein 2 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1606035 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868 32733395 LOC117976634 complement factor H-related protein 2 gene DOID:0110358 retinitis pigmentosa 12 ISO RGD:1606035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 12 PMID:10508521|PMID:17964524|PMID:22065545|PMID:23379534|PMID:25412400|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521 32733395 LOC117976634 complement factor H-related protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1606035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 32733395 LOC117976634 complement factor H-related protein 2 gene DOID:557 kidney disease ISO RGD:1606035 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases PMID:25741868|PMID:28492532 32733395 LOC117976634 complement factor H-related protein 2 gene DOID:630 genetic disease ISO RGD:1606035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32733395 LOC117976634 complement factor H-related protein 2 gene DOID:9002189 High Myopia ISO RGD:1606035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 32733395 LOC117976634 complement factor H-related protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 32733436 ZNF865 zinc finger protein 865 gene DOID:630 genetic disease ISO RGD:4109409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32733452 CES4A carboxylesterase 4A gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1602823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 32733452 CES4A carboxylesterase 4A gene DOID:0110255 cataract 5 multiple types ISO RGD:1602823 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 32733452 CES4A carboxylesterase 4A gene DOID:630 genetic disease ISO RGD:1602823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32733484 NFILZ NFIL3 like basic leucine zipper gene DOID:12849 autistic disorder ISO RGD:11569668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 32733510 TMEM238 transmembrane protein 238 gene DOID:630 genetic disease ISO RGD:5488447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32733511 ZNF775 zinc finger protein 775 gene DOID:2843 long QT syndrome ISO RGD:1603510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 32733511 ZNF775 zinc finger protein 775 gene DOID:630 genetic disease ISO RGD:1603510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32733529 ZNF717 zinc finger protein 717 gene DOID:10283 prostate cancer ISO RGD:1606870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 32733552 LOC103782706 immunoglobulin lambda-like polypeptide 5 gene DOID:0080600 COVID-19 ISO RGD:3362168 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 32733552 LOC103782706 immunoglobulin lambda-like polypeptide 5 gene DOID:11198 DiGeorge syndrome ISO RGD:3362168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 32733552 LOC103782706 immunoglobulin lambda-like polypeptide 5 gene DOID:5419 schizophrenia ISO RGD:3362168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 32733552 LOC103782706 immunoglobulin lambda-like polypeptide 5 gene DOID:630 genetic disease ISO RGD:3362168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32733583 CABP7 calcium binding protein 7 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1348796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 32733583 CABP7 calcium binding protein 7 gene DOID:630 genetic disease ISO RGD:1348796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 32733583 CABP7 calcium binding protein 7 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1348796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:21876083|PMID:24713400|PMID:28492532 329330120 PEX10 peroxisomal biogenesis factor 10 gene DOID:0050444 infantile Refsum disease ISO RGD:1319563 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:10527683|PMID:10862081|PMID:12794690|PMID:15542397|PMID:17041890|PMID:17702006|PMID:19105186|PMID:19127411|PMID:19142205|PMID:20301621|PMID:20695019|PMID:21031596|PMID:21465523|PMID:25525159|PMID:25741868|PMID:27230853|PMID:28320181|PMID:28492532|PMID:30640048|PMID:9683594|PMID:9700193 329330120 PEX10 peroxisomal biogenesis factor 10 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319563 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 329330120 PEX10 peroxisomal biogenesis factor 10 gene DOID:0050952 spastic ataxia ISO RGD:1319563 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:10862081|PMID:21031596|PMID:25741868|PMID:28492532|PMID:9683594 329330120 PEX10 peroxisomal biogenesis factor 10 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1319563 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 329330120 PEX10 peroxisomal biogenesis factor 10 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1319563 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 329330120 PEX10 peroxisomal biogenesis factor 10 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1319563 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:10862081|PMID:9683594|PMID:9700193 329330120 PEX10 peroxisomal biogenesis factor 10 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1319563 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) 329330120 PEX10 peroxisomal biogenesis factor 10 gene DOID:0080481 peroxisome biogenesis disorder 6A ISO RGD:1319563 D RGD:7240710 20230505 OMIM 329330120 PEX10 peroxisomal biogenesis factor 10 gene DOID:0080481 peroxisome biogenesis disorder 6A ISO RGD:1319563 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A (Zellweger) PMID:10527683|PMID:10862081|PMID:12794690|PMID:15542397|PMID:16199547|PMID:17041890|PMID:17576681|PMID:17702006|PMID:19105186|PMID:19127411|PMID:19142205|PMID:20301621|PMID:20695019|PMID:21031596|PMID:24033266|PMID:25179809|PMID:25525159|PMID:25741868|PMID:26319495|PMID:27230853|PMID:28320181|PMID:28492532|PMID:30640048|PMID:7565793|PMID:9536098|PMID:9683594|PMID:9700193 329330120 PEX10 peroxisomal biogenesis factor 10 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1319563 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 329330120 PEX10 peroxisomal biogenesis factor 10 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1319563 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 329330120 PEX10 peroxisomal biogenesis factor 10 gene DOID:0111934 immunodeficiency 38 ISO RGD:1319563 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 329330120 PEX10 peroxisomal biogenesis factor 10 gene DOID:0111935 immunodeficiency 16 ISO RGD:1319563 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 329330120 PEX10 peroxisomal biogenesis factor 10 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319563 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 329330120 PEX10 peroxisomal biogenesis factor 10 gene DOID:630 genetic disease ISO RGD:1319563 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10862081|PMID:16199547|PMID:21031596|PMID:25741868|PMID:28492532|PMID:9683594 329330120 PEX10 peroxisomal biogenesis factor 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319563 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 329330120 PEX10 peroxisomal biogenesis factor 10 gene DOID:9006522 Peroxisome Biogenesis Disorder 6B ISO RGD:1319563 D RGD:7240710 20230505 OMIM 329330120 PEX10 peroxisomal biogenesis factor 10 gene DOID:9006522 Peroxisome Biogenesis Disorder 6B ISO RGD:1319563 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6B PMID:10527683|PMID:10862081|PMID:12794690|PMID:15542397|PMID:17041890|PMID:17702006|PMID:19105186|PMID:19127411|PMID:19142205|PMID:20301621|PMID:20695019|PMID:21031596|PMID:21465523|PMID:25179809|PMID:25525159|PMID:25741868|PMID:26319495|PMID:27230853|PMID:28320181|PMID:28492532|PMID:30640048|PMID:8982949|PMID:9683594|PMID:9700193 329330120 PEX10 peroxisomal biogenesis factor 10 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1319563 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 329330120 PEX10 peroxisomal biogenesis factor 10 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1319563 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 | ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group B PMID:10527683|PMID:10862081|PMID:12794690|PMID:15542397|PMID:16199547|PMID:17041890|PMID:17576681|PMID:17702006|PMID:19105186|PMID:19127411|PMID:19142205|PMID:19492091|PMID:20301621|PMID:20695019|PMID:21031596|PMID:21465523|PMID:24033266|PMID:25179809|PMID:25525159|PMID:25741868|PMID:26319495|PMID:26477546|PMID:2723085|PMID:27230853|PMID:28320181|PMID:28492532|PMID:30640048|PMID:31674007|PMID:34000440|PMID:7565793|PMID:9536098|PMID:9683594|PMID:9700193 329330120 PEX10 peroxisomal biogenesis factor 10 gene DOID:905 Zellweger syndrome ISO RGD:1319563 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum PMID:10527683|PMID:10862081|PMID:12794690|PMID:15542397|PMID:17041890|PMID:17576681|PMID:17702006|PMID:19105186|PMID:19127411|PMID:19142205|PMID:20301621|PMID:20695019|PMID:21031596|PMID:21465523|PMID:24033266|PMID:25179809|PMID:25525159|PMID:25741868|PMID:27230853|PMID:28320181|PMID:28492532|PMID:30640048|PMID:9536098|PMID:9683594|PMID:9700193 329330120 PEX10 peroxisomal biogenesis factor 10 gene DOID:906 peroxisomal disease ISO RGD:1607093 D RGD:9068941 20230427 RGD PMID:25176044|REF_RGD_ID:13207455 329330144 C11H11orf80 chromosome 11 C11orf80 homolog gene DOID:1059 intellectual disability ISO RGD:1605958 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability 329330144 C11H11orf80 chromosome 11 C11orf80 homolog gene DOID:630 genetic disease ISO RGD:1605958 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329330144 C11H11orf80 chromosome 11 C11orf80 homolog gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1605958 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 329330144 C11H11orf80 chromosome 11 C11orf80 homolog gene DOID:9007235 Hydatidiform Mole, Recurrent, 4 ISO RGD:1605958 D RGD:7240710 20230505 OMIM 329330144 C11H11orf80 chromosome 11 C11orf80 homolog gene DOID:9007235 Hydatidiform Mole, Recurrent, 4 ISO RGD:1605958 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 4 PMID:25741868|PMID:30388401 329330144 C11H11orf80 chromosome 11 C11orf80 homolog gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1605958 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 329330150 STK19 serine/threonine kinase 19 gene DOID:0050553 JMP syndrome ISO RGD:1347475 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 329330150 STK19 serine/threonine kinase 19 gene DOID:1909 melanoma ISO RGD:1347475 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:26619011 329330150 STK19 serine/threonine kinase 19 gene DOID:2513 basal cell carcinoma ISO RGD:1347475 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 329330150 STK19 serine/threonine kinase 19 gene DOID:630 genetic disease ISO RGD:1347475 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329330150 STK19 serine/threonine kinase 19 gene DOID:8923 skin melanoma ISO RGD:1347475 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:26619011 329330157 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736657 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:10363917|PMID:10482260|PMID:10774989|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:15596769|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16597729|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:17993630|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20437616|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23271449|PMID:23360469|PMID:23440208|PMID:23453664|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:23959892|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24904429|PMID:25046240|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25590979|PMID:25607374|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26070303|PMID:26073431|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26469389|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27030113|PMID:27054081|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27781031|PMID:27861786|PMID:27864847|PMID:27888506|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28420012|PMID:2847176|PMID:28492532|PMID:28503627|PMID:28628100|PMID:28631195|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28926830|PMID:28940419|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29314763|PMID:29358611|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29455050|PMID:29644095|PMID:29655203|PMID:29720203|PMID:29726930|PMID:29760947|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30126342|PMID:30174244|PMID:30182498|PMID:30185235|PMID:30440138|PMID:30478917|PMID:30552426|PMID:30776697|PMID:30866059|PMID:30977854|PMID:31019026|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31302675|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31552204|PMID:31780880|PMID:31832524|PMID:31957018|PMID:32139178|PMID:32179837|PMID:32184343|PMID:32362866|PMID:32488064|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32712949|PMID:32770121|PMID:32860008|PMID:32917465|PMID:33333793|PMID:3360469|PMID:33659638|PMID:33754465|PMID:33935161|PMID:34020651|PMID:34055682|PMID:34120799|PMID:34354098|PMID:34395220|PMID:34489640|PMID:34711204|PMID:35557555|PMID:4055306|PMID:9425895|PMID:9536098|PMID:9872318 329330157 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:736657 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 329330157 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:736657 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532 329330157 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0060719 autosomal recessive congenital ichthyosis 10 ISO RGD:736657 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10 PMID:19453707|PMID:23708187|PMID:24375629|PMID:25741868|PMID:25959266|PMID:26138355|PMID:26704558|PMID:27535030|PMID:28492532|PMID:28733343|PMID:29390993|PMID:29455050|PMID:29852413|PMID:31780880|PMID:32139178|PMID:32917465|PMID:34055682|PMID:34120799|PMID:9425895 329330157 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:736657 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 329330157 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0080462 developmental and epileptic encephalopathy 7 ISO RGD:736657 D RGD:7240710 20230505 OMIM 329330157 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0080462 developmental and epileptic encephalopathy 7 ISO RGD:736657 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Continuous spike and waves during slow-wave sleep syndrome | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 7 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 7 | ClinVar Annotator: match by term: KCNQ2-Related Neonatal Epileptic Encephalopathy PMID:11572947|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:15030501|PMID:15249611|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17435769|PMID:17475800|PMID:17576681|PMID:17872363|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:19453707|PMID:20437616|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23291709|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:25052858|PMID:25092550|PMID:25262651|PMID:25326635|PMID:25326637|PMID:25473036|PMID:25566516|PMID:25590979|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26070303|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26544041|PMID:26594844|PMID:26704558|PMID:26993267|PMID:27334371|PMID:27479843|PMID:27535030|PMID:27602407|PMID:27734276|PMID:27779742|PMID:27781029|PMID:27861786|PMID:27864847|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:2847176|PMID:28492532|PMID:28503627|PMID:28628100|PMID:28631195|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28973083|PMID:29056246|PMID:29190809|PMID:29263209|PMID:29314763|PMID:29383681|PMID:29390993|PMID:29455050|PMID:29644095|PMID:29655203|PMID:29726930|PMID:29760947|PMID:29852413|PMID:30109124|PMID:30174244|PMID:30182498|PMID:30185235|PMID:30440138|PMID:30478917|PMID:30515704|PMID:30552426|PMID:30776697|PMID:31105003|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31552204|PMID:31780880|PMID:31832524|PMID:32139178|PMID:32179837|PMID:32184343|PMID:32362866|PMID:32488064|PMID:32573669|PMID:32581362|PMID:32585800|PMID:32712949|PMID:32770121|PMID:32860008|PMID:32917465|PMID:33333793|PMID:33659638|PMID:33754465|PMID:34055682|PMID:34120799|PMID:34354098|PMID:34395220|PMID:34711204|PMID:35557555|PMID:9425895|PMID:9430594|PMID:9536098|PMID:9872318 329330157 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:736657 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532|PMID:30866059 329330157 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:736657 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 PMID:14534157|PMID:23692823|PMID:25741868|PMID:27779742|PMID:28492532 329330157 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:736657 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532 329330157 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:736657 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 PMID:25741868|PMID:27535030|PMID:28492532 329330157 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736657 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy PMID:10363917|PMID:10482260|PMID:10774989|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:15596769|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16597729|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:17993630|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20437616|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23271449|PMID:23360469|PMID:23440208|PMID:23453664|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:23959892|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24904429|PMID:25046240|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25590979|PMID:25607374|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26070303|PMID:26073431|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26469389|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27030113|PMID:27054081|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27781031|PMID:27861786|PMID:27864847|PMID:27888506|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28420012|PMID:2847176|PMID:28492532|PMID:28503627|PMID:28628100|PMID:28631195|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28926830|PMID:28940419|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29314763|PMID:29358611|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29455050|PMID:29644095|PMID:29655203|PMID:29720203|PMID:29726930|PMID:29760947|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30126342|PMID:30174244|PMID:30182498|PMID:30185235|PMID:30440138|PMID:30478917|PMID:30552426|PMID:30776697|PMID:30866059|PMID:30977854|PMID:31019026|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31302675|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31552204|PMID:31780880|PMID:31832524|PMID:31957018|PMID:32139178|PMID:32179837|PMID:32184343|PMID:32362866|PMID:32488064|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32712949|PMID:32770121|PMID:32860008|PMID:32917465|PMID:33333793|PMID:3360469|PMID:33659638|PMID:33754465|PMID:33935161|PMID:34020651|PMID:34055682|PMID:34120799|PMID:34354098|PMID:34395220|PMID:34489640|PMID:34711204|PMID:35557555|PMID:4055306|PMID:9425895|PMID:9536098|PMID:9872318 329330157 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:1059 intellectual disability ISO RGD:736657 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:22275249|PMID:22926866|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28139826|PMID:28492532|PMID:28628100|PMID:28867141|PMID:29190809|PMID:30185235|PMID:32362866|PMID:32860008|PMID:33754465|PMID:34354098|PMID:34395220 329330157 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:12849 autistic disorder ISO RGD:736657 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25533962|PMID:25741868|PMID:28492532|PMID:28867141 329330157 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:14264 benign neonatal seizures ISO RGD:736657 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:18625963|PMID:19464834|PMID:28492532 329330157 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:736657 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Benign familial neonatal seizures PMID:18625963|PMID:19464834|PMID:28492532 329330157 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:1826 epilepsy ISO RGD:736657 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Seizure PMID:11690625|PMID:12754513|PMID:14534157|PMID:14985406|PMID:17576681|PMID:20119593|PMID:22275249|PMID:22926866|PMID:23360469|PMID:23621294|PMID:23692823|PMID:24107868|PMID:24318194|PMID:25533962|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25982755|PMID:26795593|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28133863|PMID:28492532|PMID:28867141|PMID:29056246|PMID:29655203|PMID:29720203|PMID:32860008|PMID:3360469|PMID:34711204|PMID:9536098 329330157 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:736657 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Benign Rolandic epilepsy PMID:18625963 329330157 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:543 dystonia ISO RGD:736657 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Limb dystonia PMID:12754513|PMID:22275249|PMID:24318194|PMID:25741868|PMID:25880994|PMID:28492532|PMID:29760947|PMID:31152295|PMID:31832524|PMID:32139178|PMID:32573669|PMID:32581362|PMID:32917465|PMID:34711204 329330157 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:630 genetic disease ISO RGD:736657 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10684873|PMID:11572947|PMID:11690625|PMID:12742592|PMID:12754513|PMID:14534157|PMID:14985406|PMID:17475800|PMID:17872363|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:19380078|PMID:19453707|PMID:20119593|PMID:20437616|PMID:21685056|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24375629|PMID:24586341|PMID:24904429|PMID:25262651|PMID:25740509|PMID:25741868|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26070303|PMID:26138355|PMID:26467025|PMID:26704558|PMID:26795593|PMID:26993267|PMID:27334371|PMID:27466704|PMID:27479843|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27861786|PMID:27864847|PMID:27888506|PMID:28133863|PMID:28399683|PMID:28492532|PMID:28628100|PMID:28717674|PMID:28867141|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29263209|PMID:29314763|PMID:29358611|PMID:29383681|PMID:29390993|PMID:29655203|PMID:29760947|PMID:30185235|PMID:30440138|PMID:30552426|PMID:31105003|PMID:31152295|PMID:31199083|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31780880|PMID:31832524|PMID:32139178|PMID:32362866|PMID:32573669|PMID:32581362|PMID:32770121|PMID:32917465|PMID:33333793|PMID:3360469|PMID:33754465|PMID:34354098|PMID:34395220|PMID:34711204|PMID:35104249|PMID:9425895|PMID:9836639|PMID:9872318 329330157 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:863 nervous system disease ISO RGD:736657 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:20805988 329330157 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9000419 Benign Familial Neonatal Seizures, 1 ISO RGD:736657 D RGD:7240710 20230505 OMIM 329330157 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9000419 Benign Familial Neonatal Seizures, 1 ISO RGD:736657 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1 | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1, and/or myokymia PMID:10323247|PMID:10482260|PMID:10774989|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14669214|PMID:14985406|PMID:15030501|PMID:15178210|PMID:15249611|PMID:15596769|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16686649|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:17993630|PMID:18006581|PMID:18246739|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19559753|PMID:19818940|PMID:20119593|PMID:20437616|PMID:21913284|PMID:21937445|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23290024|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24375629|PMID:24586341|PMID:24759409|PMID:25046240|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26073431|PMID:26138355|PMID:26467025|PMID:26544041|PMID:26704558|PMID:26993267|PMID:27334371|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27861786|PMID:27864847|PMID:27888506|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28399683|PMID:2847176|PMID:28492532|PMID:28628100|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29455050|PMID:29655203|PMID:29726930|PMID:29852413|PMID:29933521|PMID:30126342|PMID:30185235|PMID:30440138|PMID:30478917|PMID:31019026|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31780880|PMID:32139178|PMID:32184343|PMID:32362866|PMID:32860008|PMID:32917465|PMID:3360469|PMID:33659638|PMID:33754465|PMID:34020651|PMID:34055682|PMID:34120799|PMID:34354098|PMID:34395220|PMID:34711204|PMID:35557555|PMID:4055306|PMID:7980108|PMID:9425895|PMID:9430594|PMID:9536098|PMID:9872318 329330157 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:736657 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:20437616|PMID:23621294|PMID:23692823|PMID:23934111|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25741868|PMID:25880994|PMID:25959266|PMID:26007637|PMID:27535030|PMID:27602407|PMID:27864847|PMID:27905566|PMID:28133863|PMID:28492532|PMID:28973083|PMID:29186148|PMID:29655203|PMID:31418850|PMID:32179837|PMID:32581362 329330157 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9003109 Benign Familial Neonatal Seizures, 2 ISO RGD:736657 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autosomal dominant form of benign neonatal seizures | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 2 PMID:12742592|PMID:15249611|PMID:17129708|PMID:18625963|PMID:19464834|PMID:28492532|PMID:29314763|PMID:31199083 329330157 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736657 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:12754513|PMID:22275249|PMID:24318194|PMID:25741868|PMID:25880994|PMID:28492532|PMID:29760947|PMID:31152295|PMID:31832524|PMID:32139178|PMID:32573669|PMID:32581362|PMID:32917465|PMID:34711204 329330157 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9006888 Benign Neonatal Epilepsy, 1 ISO RGD:736657 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Benign Neonatal Epilepsy 1 PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17475800|PMID:17576681|PMID:17872363|PMID:17993630|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19559753|PMID:20119593|PMID:20437616|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24375629|PMID:24586341|PMID:24759409|PMID:25046240|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26073431|PMID:26138355|PMID:26467025|PMID:26544041|PMID:26704558|PMID:26993267|PMID:27334371|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27861786|PMID:27864847|PMID:27888506|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28399683|PMID:2847176|PMID:28492532|PMID:28628100|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29455050|PMID:29655203|PMID:29726930|PMID:29852413|PMID:29933521|PMID:30126342|PMID:30185235|PMID:30440138|PMID:30478917|PMID:31019026|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31780880|PMID:32139178|PMID:32184343|PMID:32362866|PMID:32860008|PMID:32917465|PMID:3360469|PMID:33659638|PMID:33754465|PMID:34020651|PMID:34055682|PMID:34120799|PMID:34354098|PMID:34395220|PMID:34711204|PMID:35557555|PMID:4055306|PMID:9425895|PMID:9536098|PMID:9872318 329330157 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9008086 Developmental Disabilities ISO RGD:736657 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:12754513|PMID:22275249|PMID:24318194|PMID:25741868|PMID:25880994|PMID:28492532|PMID:29760947|PMID:31152295|PMID:31832524|PMID:32139178|PMID:32573669|PMID:32581362|PMID:32917465|PMID:34711204 329330157 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9008347 Benign Neonatal Epilepsy 1, and/or Myokymia ISO RGD:736657 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Epilepsy, benign neonatal, 1, and/or myokymia PMID:24375629|PMID:25741868 329330157 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:736657 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 329330157 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:936 brain disease ISO RGD:736657 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868|PMID:28492532 329330219 LOC129395263 histone H2A-like 3 gene DOID:12849 autistic disorder ISO RGD:14700715 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 329330236 OPLAH 5-oxoprolinase, ATP-hydrolysing gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:733077 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy PMID:25741868 329330236 OPLAH 5-oxoprolinase, ATP-hydrolysing gene DOID:0080600 COVID-19 ISO RGD:733077 D RGD:9068941 20230427 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 329330236 OPLAH 5-oxoprolinase, ATP-hydrolysing gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:733077 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 329330236 OPLAH 5-oxoprolinase, ATP-hydrolysing gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:733077 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 329330236 OPLAH 5-oxoprolinase, ATP-hydrolysing gene DOID:4621 holoprosencephaly ISO RGD:733077 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 329330236 OPLAH 5-oxoprolinase, ATP-hydrolysing gene DOID:630 genetic disease ISO RGD:733077 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 329330236 OPLAH 5-oxoprolinase, ATP-hydrolysing gene DOID:9006099 5-Oxoprolinase Deficiency ISO RGD:733077 D RGD:7240710 20230505 OMIM 329330236 OPLAH 5-oxoprolinase, ATP-hydrolysing gene DOID:9006099 5-Oxoprolinase Deficiency ISO RGD:733077 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: 5-Oxoprolinase deficiency PMID:16199547|PMID:17576681|PMID:21651516|PMID:23430506|PMID:25741868|PMID:27477828|PMID:28492532|PMID:9536098 329330236 OPLAH 5-oxoprolinase, ATP-hydrolysing gene DOID:9006253 Ketosis ISO RGD:733077 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Ketosis PMID:25741868 329330307 LRRC24 leucine rich repeat containing 24 gene DOID:0050654 Baller-Gerold syndrome ISO RGD:1605162 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:12734318|PMID:12952869|PMID:28492532 329330307 LRRC24 leucine rich repeat containing 24 gene DOID:630 genetic disease ISO RGD:1605162 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329330308 CEMP1 cementum protein 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605138 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 329330308 CEMP1 cementum protein 1 gene DOID:1826 epilepsy ISO RGD:1605138 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 329330308 CEMP1 cementum protein 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605138 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 329330308 CEMP1 cementum protein 1 gene DOID:630 genetic disease ISO RGD:1605138 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329330361 LOC129394948 keratin-associated protein 21-3 gene DOID:630 genetic disease ISO RGD:2311719 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329330384 PRR22 proline rich 22 gene DOID:630 genetic disease ISO RGD:1602428 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329330398 GRINA glutamate ionotropic receptor NMDA type subunit associated protein 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1606337 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 329330398 GRINA glutamate ionotropic receptor NMDA type subunit associated protein 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1606337 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 329330398 GRINA glutamate ionotropic receptor NMDA type subunit associated protein 1 gene DOID:4621 holoprosencephaly ISO RGD:1606337 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 329330398 GRINA glutamate ionotropic receptor NMDA type subunit associated protein 1 gene DOID:630 genetic disease ISO RGD:1606337 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329330445 KRT79 keratin 79 gene DOID:630 genetic disease ISO RGD:1602275 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329330472 NKX2-1 NK2 homeobox 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:732483 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:25741868|PMID:28492532 329330472 NKX2-1 NK2 homeobox 1 gene DOID:0050951 hereditary ataxia ISO RGD:732483 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Hereditary ataxia PMID:24453141|PMID:25741868|PMID:29109906 329330472 NKX2-1 NK2 homeobox 1 gene DOID:12859 choreatic disease ISO RGD:732483 D RGD:7240710 20230505 OMIM 329330472 NKX2-1 NK2 homeobox 1 gene DOID:12859 choreatic disease ISO RGD:732483 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Benign hereditary chorea PMID:11971878|PMID:12891678|PMID:15289765|PMID:15955952|PMID:16220345|PMID:17576681|PMID:19176457|PMID:23379327|PMID:23430038|PMID:24555207|PMID:24714694|PMID:24930029|PMID:25741868|PMID:28492532|PMID:28503612|PMID:29882472|PMID:9536098 329330472 NKX2-1 NK2 homeobox 1 gene DOID:12859 choreatic disease susceptibility ISO RGD:732483 D RGD:9068941 20230427 RGD DNA:transition: ; 745C>T PMID:16220345|REF_RGD_ID:1600157 329330472 NKX2-1 NK2 homeobox 1 gene DOID:1749 squamous cell carcinoma ISO RGD:732483 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 329330472 NKX2-1 NK2 homeobox 1 gene DOID:3910 lung adenocarcinoma ISO RGD:732483 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 329330472 NKX2-1 NK2 homeobox 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:732483 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism 329330472 NKX2-1 NK2 homeobox 1 gene DOID:543 dystonia ISO RGD:732483 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:18788921|PMID:24555207|PMID:25741868|PMID:27066577|PMID:28492532 329330472 NKX2-1 NK2 homeobox 1 gene DOID:630 genetic disease ISO RGD:732483 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11971878|PMID:15955952|PMID:19336474|PMID:23379327|PMID:24714694|PMID:24930029|PMID:25741868|PMID:26723978|PMID:28492532|PMID:29882472 329330472 NKX2-1 NK2 homeobox 1 gene DOID:850 lung disease ISO RGD:732483 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:16863852 329330472 NKX2-1 NK2 homeobox 1 gene DOID:9003905 Benign Familial Chorea ISO RGD:732483 D RGD:9068941 20230427 RGD DNA:missense mutations:exon:p.W238L (713G>T), p.R243S (727C>A) (human) PMID:11971878|REF_RGD_ID:12914773 329330472 NKX2-1 NK2 homeobox 1 gene DOID:9003905 Benign Familial Chorea ISO RGD:732483 D RGD:9068941 20230427 RGD DNA:nonsense mutation:exon 2:p.S145X (c.609C>A) (human) PMID:18788921|REF_RGD_ID:11073166 329330472 NKX2-1 NK2 homeobox 1 gene DOID:9003905 Benign Familial Chorea ISO RGD:732483 D RGD:9068941 20230427 RGD DNA:splice-site mutation:intron:c.464-9C>A (human) PMID:22825795|REF_RGD_ID:12914772 329330472 NKX2-1 NK2 homeobox 1 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:732483 D RGD:9068941 20230427 RGD DNA:hypermethylation PMID:17504987|REF_RGD_ID:2290483 329330472 NKX2-1 NK2 homeobox 1 gene DOID:9004268 Uterine Neoplasms ISO RGD:732483 D RGD:9068941 20230427 RGD DNA:hypermethylation PMID:17504987|REF_RGD_ID:2290483 329330472 NKX2-1 NK2 homeobox 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732483 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26723978 329330472 NKX2-1 NK2 homeobox 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:732483 D RGD:7240710 20230505 OMIM 329330472 NKX2-1 NK2 homeobox 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:732483 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:11854318|PMID:11854319|PMID:11971878|PMID:12891678|PMID:15289765|PMID:15955952|PMID:17220277|PMID:17576681|PMID:18788921|PMID:19176457|PMID:19336474|PMID:22825795|PMID:22832740|PMID:23379327|PMID:24453141|PMID:24555207|PMID:24714694|PMID:24930029|PMID:25326635|PMID:25741868|PMID:26640963|PMID:27066577|PMID:28492532|PMID:28588801|PMID:28732825|PMID:29109906|PMID:29538355|PMID:29882472|PMID:30746413|PMID:9536098 329330472 NKX2-1 NK2 homeobox 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:732483 D RGD:7240710 20230505 OMIM 329330472 NKX2-1 NK2 homeobox 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:732483 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 PMID:19176457|PMID:25741868|PMID:28492532 329330472 NKX2-1 NK2 homeobox 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:732483 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:10830305|PMID:16863852 329330472 NKX2-1 NK2 homeobox 1 gene DOID:9277 primary cerebellar degeneration ISO RGD:732483 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Hereditary ataxia PMID:24453141|PMID:25741868|PMID:29109906 329330472 NKX2-1 NK2 homeobox 1 gene DOID:9538 multiple myeloma ISO RGD:732483 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Multiple myeloma 329330533 RSC1A1 regulator of solute carriers 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1349878 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 329330533 RSC1A1 regulator of solute carriers 1 gene DOID:630 genetic disease ISO RGD:1349878 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329330533 RSC1A1 regulator of solute carriers 1 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1349878 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23721890|PMID:28492532 329330533 RSC1A1 regulator of solute carriers 1 gene DOID:9970 obesity ISO RGD:1615861 D RGD:9068941 20230427 MouseDO OMIM:601665 329330625 IRX4 iroquois homeobox 4 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1319589 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 329330625 IRX4 iroquois homeobox 4 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1319589 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 329330625 IRX4 iroquois homeobox 4 gene DOID:630 genetic disease ISO RGD:1319589 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Hereditary Disorder | ClinVar Annotator: match by term: Inborn genetic diseases 329330625 IRX4 iroquois homeobox 4 gene DOID:6419 tetralogy of Fallot ISO RGD:1319589 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:25741868 329330625 IRX4 iroquois homeobox 4 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1319589 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 329330625 IRX4 iroquois homeobox 4 gene DOID:9003936 Cardiomegaly ISO RGD:1319590 D RGD:9068941 20230427 RGD PMID:11238910|REF_RGD_ID:1582289 329330625 IRX4 iroquois homeobox 4 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1319589 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 329330645 GPR31 G protein-coupled receptor 31 gene DOID:630 genetic disease ISO RGD:1313066 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329330649 ZNG1E Zn regulated GTPase metalloprotein activator 1E gene DOID:630 genetic disease ISO RGD:1601812 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329330681 RLN3 relaxin 3 gene DOID:630 genetic disease ISO RGD:1345239 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329330681 RLN3 relaxin 3 gene DOID:9002221 Hyperplasia ISO RGD:1345239 D RGD:9068941 20230427 CTD CTD Direct Evidence: therapeutic PMID:16112403 329330681 RLN3 relaxin 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:1345239 D RGD:9068941 20230427 CTD CTD Direct Evidence: therapeutic PMID:16112403 329330687 FBXO44 F-box protein 44 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606989 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 329330687 FBXO44 F-box protein 44 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606989 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 329330687 FBXO44 F-box protein 44 gene DOID:11612 polycystic ovary syndrome ISO RGD:1606989 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 329330687 FBXO44 F-box protein 44 gene DOID:630 genetic disease ISO RGD:1606989 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329330687 FBXO44 F-box protein 44 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606989 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 329330687 FBXO44 F-box protein 44 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1606989 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 329330703 GAL3ST2 galactose-3-O-sulfotransferase 2 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1346582 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 329330703 GAL3ST2 galactose-3-O-sulfotransferase 2 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1346582 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 329330703 GAL3ST2 galactose-3-O-sulfotransferase 2 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1346582 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 329330703 GAL3ST2 galactose-3-O-sulfotransferase 2 gene DOID:1059 intellectual disability ISO RGD:1346582 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Intellectual disability 329330703 GAL3ST2 galactose-3-O-sulfotransferase 2 gene DOID:630 genetic disease ISO RGD:1346582 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329330703 GAL3ST2 galactose-3-O-sulfotransferase 2 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1346582 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 329330728 LY6E lymphocyte antigen 6 family member E gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1351321 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 329330728 LY6E lymphocyte antigen 6 family member E gene DOID:1793 pancreatic cancer ISO RGD:1351321 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:17446842 329330728 LY6E lymphocyte antigen 6 family member E gene DOID:4621 holoprosencephaly ISO RGD:1351321 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 329330728 LY6E lymphocyte antigen 6 family member E gene DOID:630 genetic disease ISO RGD:1351321 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329330728 LY6E lymphocyte antigen 6 family member E gene DOID:9001488 Human Influenza ISO RGD:1351321 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 329330748 RPS15 ribosomal protein S15 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:736357 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 329330748 RPS15 ribosomal protein S15 gene DOID:5339 cyclic hematopoiesis ISO RGD:736357 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 329330748 RPS15 ribosomal protein S15 gene DOID:630 genetic disease ISO RGD:736357 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329330748 RPS15 ribosomal protein S15 gene DOID:9000217 Stomach Neoplasms ISO RGD:736357 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 329330748 RPS15 ribosomal protein S15 gene DOID:9000918 Disease Progression ISO RGD:736357 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 329330748 RPS15 ribosomal protein S15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736357 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 329330800 NLGN4X neuroligin 4 X-linked gene DOID:0050432 Asperger syndrome ISO RGD:1603020 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Asperger syndrome, X-linked, susceptibility to, 2 PMID:18189281|PMID:18231125|PMID:19726642|PMID:23468870|PMID:24570023|PMID:25675530|PMID:25741868|PMID:26055424|PMID:28492532|PMID:34963808 329330800 NLGN4X neuroligin 4 X-linked gene DOID:0060041 autism spectrum disorder ISO RGD:1603020 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 329330800 NLGN4X neuroligin 4 X-linked gene DOID:1059 intellectual disability ISO RGD:1603020 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 329330800 NLGN4X neuroligin 4 X-linked gene DOID:12849 autistic disorder ISO RGD:1603020 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 2 PMID:11368788|PMID:12669065|PMID:14963808|PMID:15150161|PMID:18231125|PMID:19377476|PMID:21681106|PMID:23431752|PMID:25326635|PMID:25741868|PMID:28492532|PMID:30208311 329330800 NLGN4X neuroligin 4 X-linked gene DOID:12849 autistic disorder susceptibility ISO RGD:1603020 D RGD:7240710 20230517 OMIM 329330800 NLGN4X neuroligin 4 X-linked gene DOID:630 genetic disease ISO RGD:1603020 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15622415|PMID:18093521|PMID:19377476|PMID:19645625|PMID:23431752|PMID:23851596|PMID:24362370|PMID:25741868|PMID:28492532 329330800 NLGN4X neuroligin 4 X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603020 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 329330958 PDE6B phosphodiesterase 6B gene DOID:0050534 congenital stationary night blindness ISO RGD:1322283 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant | ClinVar Annotator: match by term: Congenital stationary night blindness PMID:28492532|PMID:30718709 329330958 PDE6B phosphodiesterase 6B gene DOID:0050572 cone-rod dystrophy ISO RGD:1322283 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:22334370|PMID:23105016|PMID:24828262|PMID:25525159|PMID:25741868|PMID:27588261|PMID:28492532|PMID:30718709|PMID:8394174|PMID:8595886|PMID:9238087 329330958 PDE6B phosphodiesterase 6B gene DOID:0110375 retinitis pigmentosa 40 ISO RGD:1322283 D RGD:7240710 20230505 OMIM 329330958 PDE6B phosphodiesterase 6B gene DOID:0110375 retinitis pigmentosa 40 ISO RGD:1322283 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 40 PMID:10234513|PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:18310263|PMID:18723146|PMID:18854872|PMID:20591486|PMID:21147909|PMID:21655355|PMID:22334370|PMID:24033266|PMID:25097241|PMID:25356976|PMID:25472526|PMID:25741868|PMID:25823529|PMID:25827439|PMID:26155838|PMID:26667666|PMID:26868535|PMID:26872967|PMID:27596865|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28981474|PMID:29472945|PMID:29785639|PMID:30029497|PMID:30718709|PMID:30924848|PMID:30998820|PMID:31054281|PMID:31630094|PMID:31877679|PMID:33090715|PMID:33673512|PMID:7599633|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9536098|PMID:9543643 329330958 PDE6B phosphodiesterase 6B gene DOID:0110863 congenital stationary night blindness autosomal dominant 2 ISO RGD:1322283 D RGD:7240710 20230505 OMIM 329330958 PDE6B phosphodiesterase 6B gene DOID:0110863 congenital stationary night blindness autosomal dominant 2 ISO RGD:1322283 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 2 | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, RAMBUSCH TYPE PMID:16199547|PMID:17044014|PMID:17576681|PMID:18723146|PMID:22334370|PMID:24033266|PMID:24938718|PMID:25097241|PMID:25472526|PMID:25741868|PMID:26667666|PMID:26868535|PMID:27588261|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:30029497|PMID:30718709|PMID:30924848|PMID:30998820|PMID:31877679|PMID:33576794|PMID:33691693|PMID:7724547|PMID:8075643|PMID:8394174|PMID:8595886|PMID:9536098 329330958 PDE6B phosphodiesterase 6B gene DOID:0111009 cone-rod dystrophy 1 ISO RGD:12073166 D RGD:9068941 20230504 OMIA Cone-rod dystrophy 1 PMID:15064680|PMID:22065099|PMID:24045995|PMID:30050836 329330958 PDE6B phosphodiesterase 6B gene DOID:10283 prostate cancer ISO RGD:1322283 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 329330958 PDE6B phosphodiesterase 6B gene DOID:10584 retinitis pigmentosa ISO RGD:1322283 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10234513|PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:18854872|PMID:20591486|PMID:22334370|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24625443|PMID:24828262|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25741868|PMID:25823529|PMID:25827439|PMID:26155838|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26766544|PMID:27208204|PMID:27588261|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:29472945|PMID:29785639|PMID:30029497|PMID:30054919|PMID:30646425|PMID:30718709|PMID:30820151|PMID:30998820|PMID:31630094|PMID:3203739|PMID:32531858|PMID:33090715|PMID:33576794|PMID:33673512|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9238087|PMID:9536098|PMID:9543643 329330958 PDE6B phosphodiesterase 6B gene DOID:14791 Leber congenital amaurosis ISO RGD:1322283 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:33673512 329330958 PDE6B phosphodiesterase 6B gene DOID:1856 cherubism ISO RGD:1322283 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 329330958 PDE6B phosphodiesterase 6B gene DOID:4448 macular degeneration ISO RGD:1322283 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:25741868 329330958 PDE6B phosphodiesterase 6B gene DOID:630 genetic disease ISO RGD:1322283 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32531858 329330958 PDE6B phosphodiesterase 6B gene DOID:8466 retinal degeneration ISO RGD:1322283 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:16123450|PMID:17213800|PMID:24586289|PMID:8692941 329330958 PDE6B phosphodiesterase 6B gene DOID:8466 retinal degeneration ISO RGD:1322284 D RGD:9068941 20230427 MouseDO 329330958 PDE6B phosphodiesterase 6B gene DOID:8501 fundus dystrophy ISO RGD:1322283 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:22334370|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24828262|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25525159|PMID:25741868|PMID:25823529|PMID:26355662|PMID:26766544|PMID:27208204|PMID:27353947|PMID:27588261|PMID:27898983|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:29472945|PMID:29641573|PMID:30029497|PMID:30054919|PMID:30646425|PMID:30718709|PMID:30924848|PMID:30998820|PMID:31630094|PMID:3203739|PMID:33090715|PMID:33576794|PMID:33691693|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9238087|PMID:9536098 329330958 PDE6B phosphodiesterase 6B gene DOID:9002189 High Myopia ISO RGD:1322283 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: High myopia PMID:28492532 329330958 PDE6B phosphodiesterase 6B gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1322283 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 329330958 PDE6B phosphodiesterase 6B gene DOID:9006205 Animal Disease Models ISO RGD:1322283 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:17213800 329331061 LOC129395289 sperm protein associated with the nucleus on the X chromosome N5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606617 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 329331061 LOC129395289 sperm protein associated with the nucleus on the X chromosome N5 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1606617 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 329331061 LOC129395289 sperm protein associated with the nucleus on the X chromosome N5 gene DOID:12849 autistic disorder ISO RGD:1606617 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 329331061 LOC129395289 sperm protein associated with the nucleus on the X chromosome N5 gene DOID:630 genetic disease ISO RGD:1606617 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329331076 PRR33 proline rich 33 gene DOID:0080773 delta beta-thalassemia ISO RGD:9588192 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 329331091 TUNAR TCL1 upstream neural differentiation-associated RNA gene DOID:2224 essential thrombocythemia ISO RGD:6484644 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 329331091 TUNAR TCL1 upstream neural differentiation-associated RNA gene DOID:4971 myelofibrosis ISO RGD:6484644 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis 329331091 TUNAR TCL1 upstream neural differentiation-associated RNA gene DOID:9119 acute myeloid leukemia ISO RGD:6484644 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 329331095 DDX3Y DEAD-box helicase 3 Y-linked gene DOID:0070168 spermatogenic failure 3 ISO RGD:1348882 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 329331095 DDX3Y DEAD-box helicase 3 Y-linked gene DOID:0070187 Y-linked spermatogenic failure 2 ISO RGD:1348882 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism 329331095 DDX3Y DEAD-box helicase 3 Y-linked gene DOID:12849 autistic disorder ISO RGD:1348882 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 329331105 FBXW10 F-box and WD repeat domain containing 10 gene DOID:0050777 Joubert syndrome ISO RGD:1344414 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 329331105 FBXW10 F-box and WD repeat domain containing 10 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1344414 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 329331105 FBXW10 F-box and WD repeat domain containing 10 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1344414 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 329331105 FBXW10 F-box and WD repeat domain containing 10 gene DOID:12849 autistic disorder ISO RGD:1344414 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 329331119 CDHR5 cadherin related family member 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605676 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 329331119 CDHR5 cadherin related family member 5 gene DOID:0050729 neutral lipid storage disease ISO RGD:1605676 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 329331119 CDHR5 cadherin related family member 5 gene DOID:0080773 delta beta-thalassemia ISO RGD:1605676 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 329331119 CDHR5 cadherin related family member 5 gene DOID:0111969 immunodeficiency 39 ISO RGD:1605676 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 329331119 CDHR5 cadherin related family member 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605676 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 329331119 CDHR5 cadherin related family member 5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1605676 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 329331119 CDHR5 cadherin related family member 5 gene DOID:630 genetic disease ISO RGD:1605676 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329331119 CDHR5 cadherin related family member 5 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1605676 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 329331166 TMSB4Y thymosin beta 4 Y-linked gene DOID:12849 autistic disorder ISO RGD:1354108 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 329331229 PAGE2B PAGE family member 2B gene DOID:0050554 X-linked sideroblastic anemia with ataxia ISO RGD:1603822 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia 329331229 PAGE2B PAGE family member 2B gene DOID:0060063 sideroblastic anemia 1 ISO RGD:1603822 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia PMID:12663458|PMID:18823803|PMID:23315997|PMID:28492532 329331229 PAGE2B PAGE family member 2B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603822 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 329331229 PAGE2B PAGE family member 2B gene DOID:12849 autistic disorder ISO RGD:1603822 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 329331229 PAGE2B PAGE family member 2B gene DOID:630 genetic disease ISO RGD:1603822 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329331237 ZNF880 zinc finger protein 880 gene DOID:630 genetic disease ISO RGD:3207968 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329331239 HTD2 hydroxyacyl-thioester dehydratase type 2 gene DOID:630 genetic disease ISO RGD:12904515 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329331258 C19H19orf25 chromosome 19 C19orf25 homolog gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1352315 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 329331258 C19H19orf25 chromosome 19 C19orf25 homolog gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1352315 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 329331258 C19H19orf25 chromosome 19 C19orf25 homolog gene DOID:5339 cyclic hematopoiesis ISO RGD:1352315 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 329331258 C19H19orf25 chromosome 19 C19orf25 homolog gene DOID:630 genetic disease ISO RGD:1352315 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329331258 C19H19orf25 chromosome 19 C19orf25 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352315 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 329331318 ATP5ME ATP synthase membrane subunit e gene DOID:0110375 retinitis pigmentosa 40 ISO RGD:1350783 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 40 329331318 ATP5ME ATP synthase membrane subunit e gene DOID:114 heart disease ISO RGD:733939 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 329331318 ATP5ME ATP synthase membrane subunit e gene DOID:1856 cherubism ISO RGD:1350783 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 329331318 ATP5ME ATP synthase membrane subunit e gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1350783 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 329331335 ACTB actin beta gene DOID:0060229 Baraitser-Winter syndrome ISO RGD:735801 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Baraitser-Winter syndrome | ClinVar Annotator: match by term: Cerebrofrontofacial syndrome PMID:10327243|PMID:12325076|PMID:1415343|PMID:16685646|PMID:19252504|PMID:22366783|PMID:23756437|PMID:24033266|PMID:25052316|PMID:25255767|PMID:25741868|PMID:26467025|PMID:26583190|PMID:27862284|PMID:28487785|PMID:28492532|PMID:28849312|PMID:29788902|PMID:30315159|PMID:31970217|PMID:33446253|PMID:9714430 329331335 ACTB actin beta gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:628837 D RGD:9068941 20230427 RGD protein:increased carbonylation:liver PMID:25282656|REF_RGD_ID:11541097 329331335 ACTB actin beta gene DOID:0081112 Baraitser-Winter syndrome 1 ISO RGD:735801 D RGD:7240710 20230505 OMIM 329331335 ACTB actin beta gene DOID:0081112 Baraitser-Winter syndrome 1 ISO RGD:735801 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 | ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation PMID:10327243|PMID:10411937|PMID:10928857|PMID:11311002|PMID:12325076|PMID:1415343|PMID:16685646|PMID:17576681|PMID:18414213|PMID:19252504|PMID:22366783|PMID:23649928|PMID:23756437|PMID:24033266|PMID:25052316|PMID:25156961|PMID:25255767|PMID:25640679|PMID:25741868|PMID:25979418|PMID:26275891|PMID:26467025|PMID:26583190|PMID:26713879|PMID:26795593|PMID:27862284|PMID:28487785|PMID:28492532|PMID:28849312|PMID:29220674|PMID:29261186|PMID:29788902|PMID:30315159|PMID:30733661|PMID:31625567|PMID:31970217|PMID:32860008|PMID:32901917|PMID:33446253|PMID:9536098|PMID:9714430 329331335 ACTB actin beta gene DOID:10003 sensorineural hearing loss ISO RGD:735801 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:16685646 329331335 ACTB actin beta gene DOID:1059 intellectual disability ISO RGD:735801 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25052316|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29220674|PMID:30733661|PMID:31625567 329331335 ACTB actin beta gene DOID:10881 hand, foot and mouth disease ISO RGD:735801 D RGD:9068941 20230427 RGD protein:increased expression:serum PMID:30817906|REF_RGD_ID:36947391 329331335 ACTB actin beta gene DOID:12270 coloboma ISO RGD:735801 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:22366783 329331335 ACTB actin beta gene DOID:1588 thrombocytopenia ISO RGD:735801 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10411937|PMID:25741868 329331335 ACTB actin beta gene DOID:1934 dysostosis ISO RGD:735801 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:16685646 329331335 ACTB actin beta gene DOID:305 carcinoma ISO RGD:735801 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 329331335 ACTB actin beta gene DOID:3328 temporal lobe epilepsy ISO RGD:628837 D RGD:9068941 20230427 RGD protein:decreased expression:forebrain, postsynaptic density PMID:11226670|REF_RGD_ID:5147998 329331335 ACTB actin beta gene DOID:543 dystonia ISO RGD:735801 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:16685646 329331335 ACTB actin beta gene DOID:630 genetic disease ISO RGD:735801 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12325076|PMID:16685646|PMID:17576681|PMID:22366544|PMID:22366783|PMID:25255767|PMID:25741868|PMID:25979418|PMID:26583190|PMID:26713879|PMID:26795593|PMID:27862284|PMID:28487785|PMID:28492532|PMID:28849312|PMID:29220674|PMID:29261186|PMID:29788902|PMID:30315159|PMID:31970217|PMID:33446253|PMID:9536098|PMID:9714430 329331335 ACTB actin beta gene DOID:684 hepatocellular carcinoma ISO RGD:735801 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:19363144|PMID:21472284 329331335 ACTB actin beta gene DOID:8398 osteoarthritis ISO RGD:735801 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 329331335 ACTB actin beta gene DOID:9000117 Esophageal Neoplasms ISO RGD:735801 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 329331335 ACTB actin beta gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735801 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 329331335 ACTB actin beta gene DOID:9002669 Hypoxia ISO RGD:735801 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 329331335 ACTB actin beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735801 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 329331335 ACTB actin beta gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735801 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:15654357 329331335 ACTB actin beta gene DOID:9005172 Lung Neoplasms ISO RGD:735801 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:23692979 329331335 ACTB actin beta gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735801 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 329331335 ACTB actin beta gene DOID:9006221 smooth muscle hamartoma ISO RGD:735801 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Congenital smooth muscle hamartoma PMID:32170967 329331335 ACTB actin beta gene DOID:9006534 Nervous System Malformations ISO RGD:735801 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:22366783 329331335 ACTB actin beta gene DOID:9006985 Juvenile-Onset Dystonia ISO RGD:735801 D RGD:7240710 20230505 OMIM 329331335 ACTB actin beta gene DOID:9006985 Juvenile-Onset Dystonia ISO RGD:735801 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Juvenile-onset dystonia PMID:12325076|PMID:16685646|PMID:19252504|PMID:22366783|PMID:24033266|PMID:25255767|PMID:25741868|PMID:26467025|PMID:26583190|PMID:27862284|PMID:28487785|PMID:28492532|PMID:28849312|PMID:29220674|PMID:29788902|PMID:30315159|PMID:31970217|PMID:33446253|PMID:9714430 329331335 ACTB actin beta gene DOID:9007102 Myocardial Ischemia ISO RGD:735801 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 329331335 ACTB actin beta gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:628837 D RGD:9068941 20230427 RGD mRNA:increased expression:liver PMID:22563491|REF_RGD_ID:9587759 329331335 ACTB actin beta gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735801 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 329331335 ACTB actin beta gene DOID:9007661 Dwarfism ISO RGD:735801 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 329331335 ACTB actin beta gene DOID:9007956 Febrile Seizures ISO RGD:628837 D RGD:9068941 20230427 RGD PMID:23237195|REF_RGD_ID:9587751 329331335 ACTB actin beta gene DOID:9008731 Craniofacial Abnormalities ISO RGD:735801 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:22366783 329331377 IL34 interleukin 34 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602184 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 329331377 IL34 interleukin 34 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1602184 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 329331377 IL34 interleukin 34 gene DOID:11612 polycystic ovary syndrome ISO RGD:1602184 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 329331377 IL34 interleukin 34 gene DOID:630 genetic disease ISO RGD:1602184 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329331528 STAT6 signal transducer and activator of transcription 6 gene DOID:0050855 renal fibrosis ISO RGD:1309063 D RGD:9068941 20230427 RGD associated with Renal Insufficiency, Chronic PMID:15647835|REF_RGD_ID:7244136 329331528 STAT6 signal transducer and activator of transcription 6 gene DOID:0080162 lupus nephritis disease_progression ISO RGD:1319195 D RGD:9068941 20230427 RGD PMID:12874250|REF_RGD_ID:7244140 329331528 STAT6 signal transducer and activator of transcription 6 gene DOID:0080322 polycystic kidney disease ISO RGD:1319195 D RGD:9068941 20230427 RGD PMID:22025716|REF_RGD_ID:7243974 329331528 STAT6 signal transducer and activator of transcription 6 gene DOID:10283 prostate cancer disease_progression ISO RGD:1319194 D RGD:9068941 20230427 RGD mRNA, protein:increased expression:fibromuscular stroma, malignant epithelia:correlated with high histological grade and increased tumor size PMID:17705178|REF_RGD_ID:2298559 329331528 STAT6 signal transducer and activator of transcription 6 gene DOID:10286 prostate carcinoma ISO RGD:1319194 D RGD:9068941 20230427 RGD protein:increased activity:tumor:significant increase in constitutive activation vs adjacent normal tissue and unrelated normal prostate, by EMSA PMID:11912448|REF_RGD_ID:2298560 329331528 STAT6 signal transducer and activator of transcription 6 gene DOID:10966 lipoid nephrosis ISO RGD:1319194 D RGD:9068941 20230427 RGD DNA:repeat:exon, 5' utr:g.-3041(GT)15-16 (human) PMID:19011907|REF_RGD_ID:7244144 329331528 STAT6 signal transducer and activator of transcription 6 gene DOID:10966 lipoid nephrosis no_association ISO RGD:1319194 D RGD:9068941 20230427 RGD DNA:polymorphism:3' utr:2964G>A (human) PMID:15687724|REF_RGD_ID:7244146 329331528 STAT6 signal transducer and activator of transcription 6 gene DOID:10966 lipoid nephrosis severity ISO RGD:1319194 D RGD:9068941 20230427 RGD DNA:polymorphism:3' utr:g.2964G>A (human) PMID:12900808|REF_RGD_ID:7244138 329331528 STAT6 signal transducer and activator of transcription 6 gene DOID:12361 Graves' disease ISO RGD:1319195 D RGD:9068941 20230427 RGD PMID:15117875|REF_RGD_ID:7244137 329331528 STAT6 signal transducer and activator of transcription 6 gene DOID:13139 crescentic glomerulonephritis ISO RGD:1319195 D RGD:9068941 20230427 RGD PMID:21985369|REF_RGD_ID:7243976 329331528 STAT6 signal transducer and activator of transcription 6 gene DOID:1394 urinary schistosomiasis severity ISO RGD:1319194 D RGD:9068941 20230427 RGD DNA:SNP:enhancer: (rs324013) PMID:18273035|REF_RGD_ID:7243977 329331528 STAT6 signal transducer and activator of transcription 6 gene DOID:1996 rectum adenocarcinoma ISO RGD:1319194 D RGD:9068941 20230427 RGD DNA:SNP:intron: (rs3024979) (human) PMID:22121102|REF_RGD_ID:153323313 329331528 STAT6 signal transducer and activator of transcription 6 gene DOID:234 colon adenocarcinoma ISO RGD:1319194 D RGD:9068941 20230427 RGD DNA:SNP:3' utr: (rs324015) (human) PMID:22121102|REF_RGD_ID:153323313 329331528 STAT6 signal transducer and activator of transcription 6 gene DOID:2841 asthma ISO RGD:1309063 D RGD:9068941 20230427 RGD PMID:19087723|REF_RGD_ID:7244151 329331528 STAT6 signal transducer and activator of transcription 6 gene DOID:2841 asthma treatment ISO RGD:1309063 D RGD:9068941 20230427 RGD PMID:16083555|REF_RGD_ID:7244153 329331528 STAT6 signal transducer and activator of transcription 6 gene DOID:3310 atopic dermatitis ISO RGD:1319194 D RGD:9068941 20230427 CTD CTD Direct Evidence: therapeutic PMID:15306842 329331528 STAT6 signal transducer and activator of transcription 6 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:1319194 D RGD:9068941 20230427 RGD mRNA:increased expression:stomach (human) PMID:33042401|REF_RGD_ID:153298934 329331528 STAT6 signal transducer and activator of transcription 6 gene DOID:3770 pulmonary fibrosis ISO RGD:1319194 D RGD:9068941 20230427 CTD CTD Direct Evidence: therapeutic PMID:26699812 329331528 STAT6 signal transducer and activator of transcription 6 gene DOID:417 autoimmune disease ISO RGD:732669 D RGD:9068941 20230427 RGD PMID:22867713|REF_RGD_ID:7243973 329331528 STAT6 signal transducer and activator of transcription 6 gene DOID:630 genetic disease ISO RGD:1319194 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329331528 STAT6 signal transducer and activator of transcription 6 gene DOID:820 myocarditis ISO RGD:1309063 D RGD:9068941 20230427 RGD mRNA:increased expression:left heart ventricle PMID:22134058|REF_RGD_ID:7244150 329331528 STAT6 signal transducer and activator of transcription 6 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1319194 D RGD:9068941 20230427 RGD protein:increased expression:kidney, epithelial cell PMID:16399078|REF_RGD_ID:7243978 329331528 STAT6 signal transducer and activator of transcription 6 gene DOID:9000197 Edema ISO RGD:1319194 D RGD:9068941 20230427 CTD CTD Direct Evidence: therapeutic PMID:15306842 329331528 STAT6 signal transducer and activator of transcription 6 gene DOID:9000784 Fibrosis ISO RGD:1319195 D RGD:9068941 20230427 RGD PMID:10486156|REF_RGD_ID:7829775 329331528 STAT6 signal transducer and activator of transcription 6 gene DOID:9002958 Solitary Fibrous Tumors ISO RGD:1319194 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:23313952|PMID:23313954 329331528 STAT6 signal transducer and activator of transcription 6 gene DOID:9004009 Reperfusion Injury ISO RGD:1309063 D RGD:9068941 20230427 RGD mRNA:increased expression:hippocampus PMID:17880360|REF_RGD_ID:2303397 329331528 STAT6 signal transducer and activator of transcription 6 gene DOID:9004484 Sepsis severity ISO RGD:1319195 D RGD:9068941 20230427 RGD PMID:11257135|REF_RGD_ID:7207876 329331528 STAT6 signal transducer and activator of transcription 6 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1319195 D RGD:9068941 20230427 RGD DNA:gene knockout::Balb/C-derived Stat6(-/-) mice resistant to growth of implanted Balb/C mammary tumors PMID:11086031|REF_RGD_ID:2298563 329331528 STAT6 signal transducer and activator of transcription 6 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1319194 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:21765211 329331528 STAT6 signal transducer and activator of transcription 6 gene DOID:9006223 Kidney Reperfusion Injury severity ISO RGD:1319195 D RGD:9068941 20230427 RGD PMID:12709397|REF_RGD_ID:7244143 329331563 LIAT1 ligand of ATE1 gene DOID:630 genetic disease ISO RGD:1606638 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329331612 RNF126 ring finger protein 126 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1314381 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 329331612 RNF126 ring finger protein 126 gene DOID:5339 cyclic hematopoiesis ISO RGD:1314381 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 329331612 RNF126 ring finger protein 126 gene DOID:630 genetic disease ISO RGD:1314381 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329331630 ZNF778 zinc finger protein 778 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1604215 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 329331630 ZNF778 zinc finger protein 778 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1604215 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 329331630 ZNF778 zinc finger protein 778 gene DOID:14780 KBG syndrome ISO RGD:1604215 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316|PMID:31690835 329331630 ZNF778 zinc finger protein 778 gene DOID:630 genetic disease ISO RGD:1604215 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329331630 ZNF778 zinc finger protein 778 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1604215 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 329331630 ZNF778 zinc finger protein 778 gene DOID:9970 obesity ISO RGD:1604215 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 329331633 PGAM5 PGAM family member 5, mitochondrial serine/threonine protein phosphatase gene DOID:630 genetic disease ISO RGD:1604217 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329331633 PGAM5 PGAM family member 5, mitochondrial serine/threonine protein phosphatase gene DOID:9256 colorectal cancer ISO RGD:1604217 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:23230001|PMID:25948378|PMID:28492532|PMID:30503519 329331691 AMZ1 archaelysin family metallopeptidase 1 gene DOID:0111957 immunodeficiency 11A ISO RGD:1605859 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency PMID:28492532 329331691 AMZ1 archaelysin family metallopeptidase 1 gene DOID:630 genetic disease ISO RGD:1605859 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329331722 SPMAP2 sperm microtubule associated protein 2 gene DOID:630 genetic disease ISO RGD:1319470 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329331750 DMRTC1 DMRT like family C1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346508 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 329331750 DMRTC1 DMRT like family C1 gene DOID:0080509 Cornelia de Lange syndrome 5 ISO RGD:1346508 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 PMID:24403048 329331750 DMRTC1 DMRT like family C1 gene DOID:12849 autistic disorder ISO RGD:1346508 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 329331750 DMRTC1 DMRT like family C1 gene DOID:630 genetic disease ISO RGD:1346508 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329331750 DMRTC1 DMRT like family C1 gene DOID:8445 intestinal volvulus ISO RGD:1346508 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 329331750 DMRTC1 DMRT like family C1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1346508 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 329331767 UTY ubiquitously transcribed tetratricopeptide repeat containing, Y-linked gene DOID:12849 autistic disorder ISO RGD:1342500 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 329331805 KRT78 keratin 78 gene DOID:630 genetic disease ISO RGD:1606944 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329331812 LOC129394413 olfactory receptor 1E2 gene DOID:630 genetic disease ISO RGD:1347026 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329331823 LCN9 lipocalin 9 gene DOID:0050777 Joubert syndrome ISO RGD:1345733 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 329331823 LCN9 lipocalin 9 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1345733 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 329331823 LCN9 lipocalin 9 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1345733 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 329331823 LCN9 lipocalin 9 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1345733 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 329331823 LCN9 lipocalin 9 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1345733 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 329331823 LCN9 lipocalin 9 gene DOID:0081097 Rafiq syndrome ISO RGD:1345733 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 329331823 LCN9 lipocalin 9 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1345733 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 329331823 LCN9 lipocalin 9 gene DOID:3652 Leigh disease ISO RGD:1345733 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 329331823 LCN9 lipocalin 9 gene DOID:630 genetic disease ISO RGD:1345733 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329331823 LCN9 lipocalin 9 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1345733 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:0080600 COVID-19 ISO RGD:1352377 D RGD:9068941 20230427 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:0080600 COVID-19 severity ISO RGD:1352377 D RGD:9068941 20230427 RGD protein:increased expression:plasma (human) PMID:32360286|REF_RGD_ID:30309209 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:10325 silicosis ISO RGD:1359152 D RGD:9068941 20230427 RGD PMID:21830856|REF_RGD_ID:6483764 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:1063 interstitial nephritis ISO RGD:1352377 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:10385480 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:1063 interstitial nephritis ISO RGD:1359152 D RGD:9068941 20230427 RGD PMID:10385480|REF_RGD_ID:6483768 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:11204 allergic conjunctivitis ISO RGD:1352377 D RGD:9068941 20230427 RGD protein:increased expression:conjunctiva PMID:11090473|REF_RGD_ID:6483824 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:1551007 D RGD:9068941 20230427 RGD PMID:16888287|REF_RGD_ID:5130981 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:1205 allergic disease ISO RGD:1352377 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:13580 cholestasis ISO RGD:1352377 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:21224055 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:1790 malignant mesothelioma ISO RGD:1352377 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:2377 multiple sclerosis ISO RGD:1352377 D RGD:9068941 20230427 RGD DNA:polymorphism:promoter PMID:12127674|REF_RGD_ID:6483818 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:2377 multiple sclerosis ISO RGD:1352377 D RGD:9068941 20230427 RGD mRNA,protein:increased expression:brain PMID:9655469|REF_RGD_ID:6483814 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:2527 nephrosis ISO RGD:1359152 D RGD:9068941 20230427 RGD PMID:10867541|REF_RGD_ID:4891422 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:2799 bronchiolitis obliterans ISO RGD:1359152 D RGD:9068941 20230427 RGD protein:increased expression:bronchoalveolar Lavage fluid PMID:22215510|REF_RGD_ID:6483763 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:2841 asthma ISO RGD:1352377 D RGD:9068941 20230427 RGD Promoter polymorphism PMID:21388664|REF_RGD_ID:5130983 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:2841 asthma ISO RGD:1551007 D RGD:9068941 20230427 RGD PMID:19965981|REF_RGD_ID:5130979 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:2921 glomerulonephritis ISO RGD:1352377 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:10385480 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:2921 glomerulonephritis ISO RGD:1359152 D RGD:9068941 20230427 RGD PMID:11157384|REF_RGD_ID:8693624 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1352377 D RGD:9068941 20230427 RGD mRNA,protein:increased expression:macrophage PMID:21327296|REF_RGD_ID:6483765 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:3525 middle cerebral artery infarction ISO RGD:1352377 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:4483 rhinitis ISO RGD:1352377 D RGD:9068941 20230427 RGD PMID:17982926|REF_RGD_ID:4145109 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:4617 periapical granuloma ISO RGD:1352377 D RGD:9068941 20230427 RGD protein:increased expression:periodontal ligament PMID:20646081|REF_RGD_ID:6483772 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:552 pneumonia ISO RGD:1352377 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:552 pneumonia ISO RGD:1352377 D RGD:9068941 20230427 RGD PMID:15191918|REF_RGD_ID:5130985 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:630 genetic disease ISO RGD:1352377 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:820 myocarditis ISO RGD:730822 D RGD:9068941 20230427 RGD PMID:21986287|REF_RGD_ID:6483771 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:823 periapical periodontitis disease_progression ISO RGD:1352377 D RGD:9068941 20230427 RGD protein:increased expression:periodontal ligament PMID:20646081|REF_RGD_ID:6483772 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1551007 D RGD:9068941 20230427 RGD PMID:20027288|REF_RGD_ID:5130978 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:8466 retinal degeneration ISO RGD:1551007 D RGD:9068941 20230427 RGD mRNA:increased expression:retina PMID:16270028|REF_RGD_ID:6483781 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:8577 ulcerative colitis ISO RGD:1352377 D RGD:9068941 20230427 RGD protein:increased expression:colon PMID:10433925|REF_RGD_ID:6483784 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1551007 D RGD:9068941 20230427 RGD PMID:18490489|REF_RGD_ID:5130980 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:9001004 Chronic Periodontitis disease_progression ISO RGD:1352377 D RGD:9068941 20230427 RGD protein:increased expression:gingival crevicular fluid, gingvia PMID:20151806|REF_RGD_ID:6483776 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1359152 D RGD:9068941 20230427 RGD PMID:17719030|REF_RGD_ID:6483766 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:9002457 Experimental Arthritis onset ISO RGD:1551007 D RGD:9068941 20230427 RGD PMID:17178563|REF_RGD_ID:6483780 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352377 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:9005334 Radicular Cyst ISO RGD:1352377 D RGD:9068941 20230427 RGD protein:increased expression:periodontal ligament PMID:20646081|REF_RGD_ID:6483772 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:9005724 Fungal Lung Diseases ISO RGD:1551007 D RGD:9068941 20230427 RGD PMID:20045013|REF_RGD_ID:5129686 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:9007889 Nephrogenic Fibrosing Dermopathy ISO RGD:1359152 D RGD:9068941 20230427 RGD protein:increased expression:serum PMID:19131226|REF_RGD_ID:5135067 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:934 viral infectious disease ISO RGD:1352377 D RGD:9068941 20230427 RGD Various respiratory viruses PMID:18579545|REF_RGD_ID:5130984 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:9507 ethmoid sinusitis ISO RGD:1352377 D RGD:9068941 20230427 RGD protein:increased expression:ethmoid sinus PMID:9800627|REF_RGD_ID:6483785 329331872 CCL7 C-C motif chemokine ligand 7 gene DOID:9970 obesity ISO RGD:1352377 D RGD:9068941 20230427 RGD mRNA:increased expression:adipose tissue PMID:18492752|REF_RGD_ID:6483834 329331981 THSD8 thrombospondin type 1 domain containing 8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1620125 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 329332045 KDM5D lysine demethylase 5D gene DOID:0070187 Y-linked spermatogenic failure 2 ISO RGD:1346764 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism 329332045 KDM5D lysine demethylase 5D gene DOID:12849 autistic disorder ISO RGD:1346764 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 329332078 MFSD3 major facilitator superfamily domain containing 3 gene DOID:0050654 Baller-Gerold syndrome ISO RGD:1605597 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:12734318|PMID:28492532 329332078 MFSD3 major facilitator superfamily domain containing 3 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1605597 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 329332078 MFSD3 major facilitator superfamily domain containing 3 gene DOID:4621 holoprosencephaly ISO RGD:1605597 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 329332078 MFSD3 major facilitator superfamily domain containing 3 gene DOID:630 genetic disease ISO RGD:1605597 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329332128 SOX11 SRY-box transcription factor 11 gene DOID:0070057 Coffin-Siris syndrome 9 ISO RGD:735734 D RGD:7240710 20230505 OMIM 329332128 SOX11 SRY-box transcription factor 11 gene DOID:0070057 Coffin-Siris syndrome 9 ISO RGD:735734 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 9 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND WITH OR WITHOUT OCULAR MALFORMATIONS OR HYPOGONADOTROPIC HYPOGONADISM PMID:24886874|PMID:25741868|PMID:26543203|PMID:28492532|PMID:28787104|PMID:31292255|PMID:32860008|PMID:33086258|PMID:33785884|PMID:35341651|PMID:35642566|PMID:35938035 329332128 SOX11 SRY-box transcription factor 11 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:735734 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 329332128 SOX11 SRY-box transcription factor 11 gene DOID:1925 Coffin-Siris syndrome ISO RGD:735734 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome PMID:25741868|PMID:26543203 329332128 SOX11 SRY-box transcription factor 11 gene DOID:630 genetic disease ISO RGD:735734 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15254231|PMID:24886874|PMID:25741868|PMID:26543203|PMID:28492532 329332128 SOX11 SRY-box transcription factor 11 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:735734 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 329332128 SOX11 SRY-box transcription factor 11 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:735734 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 329332128 SOX11 SRY-box transcription factor 11 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735734 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 329332128 SOX11 SRY-box transcription factor 11 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:735734 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:31292255 329332143 LOC129395338 spermatid nuclear transition protein 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:150383338 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 329332143 LOC129395338 spermatid nuclear transition protein 3 gene DOID:12849 autistic disorder ISO RGD:150383338 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 329332268 LOC129394094 uncharacterized LOC129394094 gene DOID:0060041 autism spectrum disorder ISO RGD:38612027 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 329332268 LOC129394094 uncharacterized LOC129394094 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:38612027 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome 329332268 LOC129394094 uncharacterized LOC129394094 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:38612027 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 329332268 LOC129394094 uncharacterized LOC129394094 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:38612027 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:25741868 329332268 LOC129394094 uncharacterized LOC129394094 gene DOID:12849 autistic disorder ISO RGD:38612027 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 329332268 LOC129394094 uncharacterized LOC129394094 gene DOID:1882 atrial heart septal defect ISO RGD:38612027 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 329332268 LOC129394094 uncharacterized LOC129394094 gene DOID:5419 schizophrenia ISO RGD:38612027 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 329332268 LOC129394094 uncharacterized LOC129394094 gene DOID:630 genetic disease ISO RGD:38612027 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329332268 LOC129394094 uncharacterized LOC129394094 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:38612027 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome 329332273 CRIP2 cysteine rich protein 2 gene DOID:0080600 COVID-19 ISO RGD:1351980 D RGD:9068941 20230427 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 329332273 CRIP2 cysteine rich protein 2 gene DOID:630 genetic disease ISO RGD:1351980 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329332360 LOC129394575 uncharacterized LOC129394575 gene DOID:0060435 chromosome 1q21.1 duplication syndrome ISO RGD:155791605 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome 329332360 LOC129394575 uncharacterized LOC129394575 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:155791605 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 329332360 LOC129394575 uncharacterized LOC129394575 gene DOID:5419 schizophrenia ISO RGD:155791605 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 329332413 TRIP13 thyroid hormone receptor interactor 13 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1318331 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 329332413 TRIP13 thyroid hormone receptor interactor 13 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1318331 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 329332413 TRIP13 thyroid hormone receptor interactor 13 gene DOID:0080600 COVID-19 ISO RGD:1318331 D RGD:9068941 20230427 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 329332413 TRIP13 thyroid hormone receptor interactor 13 gene DOID:0080688 mosaic variegated aneuploidy syndrome ISO RGD:1318331 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:28553959 329332413 TRIP13 thyroid hormone receptor interactor 13 gene DOID:0080689 mosaic variegated aneuploidy syndrome 3 ISO RGD:1318331 D RGD:7240710 20230505 OMIM 329332413 TRIP13 thyroid hormone receptor interactor 13 gene DOID:0080689 mosaic variegated aneuploidy syndrome 3 ISO RGD:1318331 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 3 PMID:25741868|PMID:28553959|PMID:32473092 329332413 TRIP13 thyroid hormone receptor interactor 13 gene DOID:2154 nephroblastoma ISO RGD:1318331 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:28553959 329332413 TRIP13 thyroid hormone receptor interactor 13 gene DOID:630 genetic disease ISO RGD:1318331 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329332413 TRIP13 thyroid hormone receptor interactor 13 gene DOID:684 hepatocellular carcinoma ISO RGD:1318331 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 329332413 TRIP13 thyroid hormone receptor interactor 13 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1318331 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:28553959 329332413 TRIP13 thyroid hormone receptor interactor 13 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1318331 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 329332413 TRIP13 thyroid hormone receptor interactor 13 gene DOID:9006192 Oocyte/Zygote/Embryo Maturation Arrest 9 ISO RGD:1318331 D RGD:7240710 20230505 OMIM 329332413 TRIP13 thyroid hormone receptor interactor 13 gene DOID:9006192 Oocyte/Zygote/Embryo Maturation Arrest 9 ISO RGD:1318331 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 9 PMID:25741868|PMID:32473092 329332413 TRIP13 thyroid hormone receptor interactor 13 gene DOID:9008692 Aneuploidy ISO RGD:1318331 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:28553959 329332453 PICK1 protein interacting with PRKCA 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:69496 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 329332453 PICK1 protein interacting with PRKCA 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:69496 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 329332453 PICK1 protein interacting with PRKCA 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:69496 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 329332453 PICK1 protein interacting with PRKCA 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:69496 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 329332453 PICK1 protein interacting with PRKCA 1 gene DOID:630 genetic disease ISO RGD:69496 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329332453 PICK1 protein interacting with PRKCA 1 gene DOID:670 amphetamine abuse ISO RGD:69496 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:17606663 329332453 PICK1 protein interacting with PRKCA 1 gene DOID:8646 substance-induced psychosis ISO RGD:69496 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:17606663 329332476 LRRC14 leucine rich repeat containing 14 gene DOID:0050654 Baller-Gerold syndrome ISO RGD:1348401 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:12734318|PMID:12952869|PMID:28492532 329332476 LRRC14 leucine rich repeat containing 14 gene DOID:630 genetic disease ISO RGD:1348401 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329332494 CATSPER2 cation channel sperm associated 2 gene DOID:0070173 spermatogenic failure 7 ISO RGD:1316921 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism 329332494 CATSPER2 cation channel sperm associated 2 gene DOID:0110471 autosomal recessive nonsyndromic deafness 16 ISO RGD:1316921 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 16 PMID:11687802|PMID:21681106|PMID:25741868|PMID:26011646 329332494 CATSPER2 cation channel sperm associated 2 gene DOID:12336 male infertility ISO RGD:1316921 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Male infertility 329332494 CATSPER2 cation channel sperm associated 2 gene DOID:2717 Bloom syndrome ISO RGD:1316921 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 329332494 CATSPER2 cation channel sperm associated 2 gene DOID:5223 infertility ISO RGD:1316921 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Infertility 329332494 CATSPER2 cation channel sperm associated 2 gene DOID:630 genetic disease ISO RGD:1316921 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329332494 CATSPER2 cation channel sperm associated 2 gene DOID:9002477 Sensorineural Deafness and Male Infertility ISO RGD:1316921 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Deafness-infertility syndrome PMID:19344877|PMID:24033266|PMID:25741868 329332494 CATSPER2 cation channel sperm associated 2 gene DOID:9004538 Hearing Loss ISO RGD:1316921 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Hearing impairment 329332494 CATSPER2 cation channel sperm associated 2 gene DOID:9256 colorectal cancer ISO RGD:1316921 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 329332500 USP18 ubiquitin specific peptidase 18 gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1353279 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism 329332500 USP18 ubiquitin specific peptidase 18 gene DOID:0111996 immunodeficiency 51 ISO RGD:1353279 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 329332500 USP18 ubiquitin specific peptidase 18 gene DOID:11198 DiGeorge syndrome ISO RGD:1353279 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 329332500 USP18 ubiquitin specific peptidase 18 gene DOID:1967 leiomyosarcoma ISO RGD:1353279 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:26555296 329332500 USP18 ubiquitin specific peptidase 18 gene DOID:5419 schizophrenia ISO RGD:1353279 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 329332500 USP18 ubiquitin specific peptidase 18 gene DOID:630 genetic disease ISO RGD:1353279 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 329332500 USP18 ubiquitin specific peptidase 18 gene DOID:9001536 Pseudo-TORCH Syndrome 2 ISO RGD:1353279 D RGD:7240710 20230505 OMIM 329332500 USP18 ubiquitin specific peptidase 18 gene DOID:9001536 Pseudo-TORCH Syndrome 2 ISO RGD:1353279 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Pseudo-TORCH syndrome 2 PMID:12833411|PMID:25741868|PMID:27325888|PMID:31940699 329332500 USP18 ubiquitin specific peptidase 18 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1353279 D RGD:9068941 20230427 RGD PMID:28036111|REF_RGD_ID:40400915 329332500 USP18 ubiquitin specific peptidase 18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353279 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 329332500 USP18 ubiquitin specific peptidase 18 gene DOID:9004610 Acute Lung Injury ISO RGD:1353279 D RGD:9068941 20230427 CTD CTD Direct Evidence: therapeutic PMID:33930521 329332500 USP18 ubiquitin specific peptidase 18 gene DOID:9005172 Lung Neoplasms ISO RGD:1353279 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:27980214 329332500 USP18 ubiquitin specific peptidase 18 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1353279 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 329332564 TAS2R14 taste 2 receptor member 14 gene DOID:630 genetic disease ISO RGD:30305929 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329332653 SLC36A2 solute carrier family 36 member 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1354285 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 329332653 SLC36A2 solute carrier family 36 member 2 gene DOID:0112265 iminoglycinuria ISO RGD:1354285 D RGD:7240710 20230505 OMIM 329332653 SLC36A2 solute carrier family 36 member 2 gene DOID:0112265 iminoglycinuria ISO RGD:1354285 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Iminoglycinuria PMID:19033659|PMID:28492532 329332653 SLC36A2 solute carrier family 36 member 2 gene DOID:4795 GM2 Gangliosidosis, AB variant ISO RGD:1354285 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease, variant AB PMID:28492532 329332653 SLC36A2 solute carrier family 36 member 2 gene DOID:630 genetic disease ISO RGD:1354285 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329332653 SLC36A2 solute carrier family 36 member 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354285 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 329332653 SLC36A2 solute carrier family 36 member 2 gene DOID:9008487 Glycinuria with or without Oxalate Urolithiasis ISO RGD:1354285 D RGD:7240710 20230505 OMIM 329332653 SLC36A2 solute carrier family 36 member 2 gene DOID:9008487 Glycinuria with or without Oxalate Urolithiasis ISO RGD:1354285 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Hyperglycinuria PMID:19033659|PMID:25741868|PMID:28492532 329332660 KLHL26 kelch like family member 26 gene DOID:630 genetic disease ISO RGD:1602473 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329332660 KLHL26 kelch like family member 26 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1602473 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 329332673 POTEC POTE ankyrin domain family member C gene DOID:1059 intellectual disability ISO RGD:2291751 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Intellectual disability 329332705 LOC129394949 keratin-associated protein 10-8 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1342479 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 329332705 LOC129394949 keratin-associated protein 10-8 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1342479 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 329332705 LOC129394949 keratin-associated protein 10-8 gene DOID:0110266 cataract 9 multiple types ISO RGD:1342479 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 329332705 LOC129394949 keratin-associated protein 10-8 gene DOID:12849 autistic disorder ISO RGD:1342479 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 329332705 LOC129394949 keratin-associated protein 10-8 gene DOID:630 genetic disease ISO RGD:1342479 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329332705 LOC129394949 keratin-associated protein 10-8 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1342479 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 329332705 LOC129394949 keratin-associated protein 10-8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342479 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 329332705 LOC129394949 keratin-associated protein 10-8 gene DOID:9263 homocystinuria ISO RGD:1342479 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 329332705 LOC129394949 keratin-associated protein 10-8 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1342479 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 329332748 APC2 APC regulator of WNT signaling pathway 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:1317926 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:18716850 329332748 APC2 APC regulator of WNT signaling pathway 2 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1317926 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 329332748 APC2 APC regulator of WNT signaling pathway 2 gene DOID:0081218 autosomal recessive intellectual developmental disorder 74 ISO RGD:1317926 D RGD:7240710 20230505 OMIM 329332748 APC2 APC regulator of WNT signaling pathway 2 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1317926 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 329332748 APC2 APC regulator of WNT signaling pathway 2 gene DOID:0112104 Sotos syndrome 3 ISO RGD:1317926 D RGD:7240710 20230505 OMIM 329332748 APC2 APC regulator of WNT signaling pathway 2 gene DOID:0112104 Sotos syndrome 3 ISO RGD:1317926 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Sotos syndrome 3 PMID:25741868|PMID:25753423|PMID:28492532|PMID:33161245 329332748 APC2 APC regulator of WNT signaling pathway 2 gene DOID:1826 epilepsy ISO RGD:1317926 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 329332748 APC2 APC regulator of WNT signaling pathway 2 gene DOID:5339 cyclic hematopoiesis ISO RGD:1317926 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 329332748 APC2 APC regulator of WNT signaling pathway 2 gene DOID:630 genetic disease ISO RGD:1317926 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 329332748 APC2 APC regulator of WNT signaling pathway 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317926 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 329332748 APC2 APC regulator of WNT signaling pathway 2 gene DOID:9007534 Complex Cortical Dysplasia with Other Brain Malformations 10 ISO RGD:1317926 D RGD:7240710 20230505 OMIM 329332748 APC2 APC regulator of WNT signaling pathway 2 gene DOID:9007534 Complex Cortical Dysplasia with Other Brain Malformations 10 ISO RGD:1317926 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 10 PMID:25741868|PMID:28492532|PMID:31585108 329332748 APC2 APC regulator of WNT signaling pathway 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1317926 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:18716850|PMID:21278247 329332748 APC2 APC regulator of WNT signaling pathway 2 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1317926 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 329332748 APC2 APC regulator of WNT signaling pathway 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1317926 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 329344691 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:0080519 PAPA syndrome ISO RGD:1316821 D RGD:7240710 20230505 OMIM 329344691 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:0080519 PAPA syndrome ISO RGD:1316821 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial recurrent arthritis | ClinVar Annotator: match by term: Pyogenic arthritis, pyoderma gangrenosum and acne PMID:11971877|PMID:14595024|PMID:15580218|PMID:16199547|PMID:16527883|PMID:17576681|PMID:19673875|PMID:19934105|PMID:20506269|PMID:22161697|PMID:22513199|PMID:23571383|PMID:24139496|PMID:25683018|PMID:25741868|PMID:25845478|PMID:26025129|PMID:26386126|PMID:27577878|PMID:28492532|PMID:28628471|PMID:28960754|PMID:29150835|PMID:29432774|PMID:30198636|PMID:30290665|PMID:30783801|PMID:31119601|PMID:31789267|PMID:32054657|PMID:32441320|PMID:32888943|PMID:33597285|PMID:34399798|PMID:34620178|PMID:9536098 329344691 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:13241 Behcet's disease ISO RGD:1316821 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Behcet disease | ClinVar Annotator: match by term: Behcet's syndrome PMID:25741868|PMID:28492532 329344691 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:2280 hidradenitis suppurativa ISO RGD:1316821 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 329344691 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1316821 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 329344691 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1316821 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:25741868|PMID:27577878|PMID:28492532|PMID:30290665 329344691 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:5419 schizophrenia ISO RGD:1316821 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 329344691 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:630 genetic disease ISO RGD:1316821 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 329344691 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:6543 acne ISO RGD:1316821 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 329344691 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:8553 pyoderma gangrenosum ISO RGD:1316821 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 329344691 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316821 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 329344691 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:9256 colorectal cancer ISO RGD:1316821 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 329344759 TMEM259 transmembrane protein 259 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1322435 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 329344759 TMEM259 transmembrane protein 259 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1322435 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 329344759 TMEM259 transmembrane protein 259 gene DOID:5339 cyclic hematopoiesis ISO RGD:1322435 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 329344759 TMEM259 transmembrane protein 259 gene DOID:630 genetic disease ISO RGD:1322435 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329344846 GPAA1 glycosylphosphatidylinositol anchor attachment 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1353728 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 329344846 GPAA1 glycosylphosphatidylinositol anchor attachment 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1353728 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 329344846 GPAA1 glycosylphosphatidylinositol anchor attachment 1 gene DOID:4621 holoprosencephaly ISO RGD:1353728 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 329344846 GPAA1 glycosylphosphatidylinositol anchor attachment 1 gene DOID:630 genetic disease ISO RGD:1353728 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:34703884|PMID:9536098 329344846 GPAA1 glycosylphosphatidylinositol anchor attachment 1 gene DOID:9009067 Glycosylphosphatidylinositol Biosynthesis Defect 15 ISO RGD:1353728 D RGD:7240710 20230505 OMIM 329344846 GPAA1 glycosylphosphatidylinositol anchor attachment 1 gene DOID:9009067 Glycosylphosphatidylinositol Biosynthesis Defect 15 ISO RGD:1353728 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 15 PMID:17576681|PMID:25741868|PMID:28492532|PMID:29100095|PMID:32637629|PMID:34703884|PMID:9536098 329344894 KRT4 keratin 4 gene DOID:0050448 white sponge nevus ISO RGD:1342912 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism 329344894 KRT4 keratin 4 gene DOID:0050448 white sponge nevus ISO RGD:1553546 D RGD:9068941 20230504 MouseDO OMIM:193900 | OMIM:615785 329344894 KRT4 keratin 4 gene DOID:0081287 white sponge nevus 1 ISO RGD:1342912 D RGD:7240710 20230505 OMIM 329344894 KRT4 keratin 4 gene DOID:0081287 white sponge nevus 1 ISO RGD:1342912 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: White sponge nevus 1 PMID:10652003|PMID:12828738|PMID:28492532 329344894 KRT4 keratin 4 gene DOID:2773 contact dermatitis ISO RGD:1342912 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 329344894 KRT4 keratin 4 gene DOID:630 genetic disease ISO RGD:1342912 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 329344894 KRT4 keratin 4 gene DOID:9007168 Genetic Skin Diseases susceptibility ISO RGD:1342912 D RGD:9068941 20230504 RGD DNA:deletion: ; white sponge nevus, OMIM:193900 PMID:7493030|REF_RGD_ID:1600193 329345015 LOC129398270 olfactory receptor 2AE1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344866 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 329345015 LOC129398270 olfactory receptor 2AE1 gene DOID:630 genetic disease ISO RGD:1344866 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329345079 TOLLIP toll interacting protein gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1312257 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 329345079 TOLLIP toll interacting protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312257 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 329345079 TOLLIP toll interacting protein gene DOID:0080773 delta beta-thalassemia ISO RGD:1312257 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 329345079 TOLLIP toll interacting protein gene DOID:0111969 immunodeficiency 39 ISO RGD:1312257 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 329345079 TOLLIP toll interacting protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312257 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 329345079 TOLLIP toll interacting protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1312257 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 329345079 TOLLIP toll interacting protein gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1312257 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease 329345079 TOLLIP toll interacting protein gene DOID:630 genetic disease ISO RGD:1312257 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329345079 TOLLIP toll interacting protein gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1312257 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 329345123 CFD complement factor D gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:736531 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 329345123 CFD complement factor D gene DOID:10320 asbestosis ISO RGD:736531 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:22832039 329345123 CFD complement factor D gene DOID:1556 arthus reaction ISO RGD:2498 D RGD:9068941 20230504 RGD PMID:10605043|REF_RGD_ID:1624328 329345123 CFD complement factor D gene DOID:289 endometriosis ISO RGD:736531 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 329345123 CFD complement factor D gene DOID:2921 glomerulonephritis ISO RGD:736531 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:14675043 329345123 CFD complement factor D gene DOID:3770 pulmonary fibrosis ISO RGD:736531 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:22832039 329345123 CFD complement factor D gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:736531 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 329345123 CFD complement factor D gene DOID:5119 ovarian cyst ISO RGD:736531 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 329345123 CFD complement factor D gene DOID:5339 cyclic hematopoiesis ISO RGD:736531 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 329345123 CFD complement factor D gene DOID:6000 congestive heart failure ISO RGD:736531 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 329345123 CFD complement factor D gene DOID:612 primary immunodeficiency disease ISO RGD:736531 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:11457876|PMID:16527897 329345123 CFD complement factor D gene DOID:630 genetic disease ISO RGD:736531 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 329345123 CFD complement factor D gene DOID:9001385 Complement Factor D Deficiency ISO RGD:736531 D RGD:7240710 20230505 OMIM 329345123 CFD complement factor D gene DOID:9001385 Complement Factor D Deficiency ISO RGD:736531 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Complement factor d deficiency PMID:11457876|PMID:25741868 329345123 CFD complement factor D gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736531 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 329345123 CFD complement factor D gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2498 D RGD:9068941 20230504 RGD protein:decreased expression:serum PMID:8372111|REF_RGD_ID:1624344 329345123 CFD complement factor D gene DOID:9008366 Meningococcal Infections ISO RGD:736531 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:16527897 329345123 CFD complement factor D gene DOID:9008538 Neisseriaceae Infections ISO RGD:736531 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:11457876 329345123 CFD complement factor D gene DOID:9970 obesity ISO RGD:2498 D RGD:9068941 20230504 RGD mRNA, protein:decreased expression:adipocyte, serum PMID:2197880|REF_RGD_ID:1624327 329345123 CFD complement factor D gene DOID:9970 obesity ISO RGD:736531 D RGD:9068941 20230504 RGD PMID:14564690|REF_RGD_ID:1624324 329345150 ZFY zinc finger protein Y-linked gene DOID:12849 autistic disorder ISO RGD:1347591 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 329345172 SMIM45 small integral membrane protein 45 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:6892816 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 329345179 SPINK4 serine peptidase inhibitor Kazal type 4 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1342974 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 329345179 SPINK4 serine peptidase inhibitor Kazal type 4 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1342974 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 329345179 SPINK4 serine peptidase inhibitor Kazal type 4 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1342974 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 329345179 SPINK4 serine peptidase inhibitor Kazal type 4 gene DOID:630 genetic disease ISO RGD:1342974 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329345179 SPINK4 serine peptidase inhibitor Kazal type 4 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1342974 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 329345179 SPINK4 serine peptidase inhibitor Kazal type 4 gene DOID:9870 galactosemia ISO RGD:1342974 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 329345213 LOC129394934 uncharacterized LOC129394934 gene DOID:0110128 Bardet-Biedl syndrome 6 ISO RGD:156430338 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 6 329345213 LOC129394934 uncharacterized LOC129394934 gene DOID:0111255 McKusick-Kaufman syndrome ISO RGD:156430338 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: McKusick-Kaufman syndrome 329345213 LOC129394934 uncharacterized LOC129394934 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:156430338 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 329345213 LOC129394934 uncharacterized LOC129394934 gene DOID:9245 Alagille syndrome ISO RGD:156430338 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:10213047|PMID:16575836|PMID:19058200|PMID:22382802|PMID:28492532 329345260 IRF7 interferon regulatory factor 7 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1317251 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 329345260 IRF7 interferon regulatory factor 7 gene DOID:0050729 neutral lipid storage disease ISO RGD:1317251 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 329345260 IRF7 interferon regulatory factor 7 gene DOID:0080600 COVID-19 ISO RGD:1317251 D RGD:9068941 20230504 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 329345260 IRF7 interferon regulatory factor 7 gene DOID:0080773 delta beta-thalassemia ISO RGD:1317251 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 329345260 IRF7 interferon regulatory factor 7 gene DOID:0111969 immunodeficiency 39 ISO RGD:1317251 D RGD:7240710 20230505 OMIM 329345260 IRF7 interferon regulatory factor 7 gene DOID:0111969 immunodeficiency 39 ISO RGD:1317251 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:16199547|PMID:17576681|PMID:25741868|PMID:25814066|PMID:28492532|PMID:31172279|PMID:9536098 329345260 IRF7 interferon regulatory factor 7 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1317251 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 329345260 IRF7 interferon regulatory factor 7 gene DOID:12155 lymphocytic choriomeningitis ISO RGD:732185 D RGD:9068941 20230504 RGD PMID:24760883|REF_RGD_ID:124715479 329345260 IRF7 interferon regulatory factor 7 gene DOID:12155 lymphocytic choriomeningitis disease_progression ISO RGD:1317252 D RGD:9068941 20230504 RGD PMID:24760883|REF_RGD_ID:124715479 329345260 IRF7 interferon regulatory factor 7 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1317251 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 329345260 IRF7 interferon regulatory factor 7 gene DOID:630 genetic disease ISO RGD:1317251 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 329345260 IRF7 interferon regulatory factor 7 gene DOID:9001488 Human Influenza ISO RGD:1317251 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 329345260 IRF7 interferon regulatory factor 7 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1317251 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 329345260 IRF7 interferon regulatory factor 7 gene DOID:9005372 Inflammation ISO RGD:1317251 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:20513754 329345265 FBXO47 F-box protein 47 gene DOID:630 genetic disease ISO RGD:1606618 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329345310 IQCF5 IQ motif containing F5 gene DOID:10487 Hirschsprung's disease ISO RGD:2303477 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 329345310 IQCF5 IQ motif containing F5 gene DOID:630 genetic disease ISO RGD:2303477 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329345371 DUS3L dihydrouridine synthase 3 like gene DOID:630 genetic disease ISO RGD:1604330 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329345425 PLPP2 phospholipid phosphatase 2 gene DOID:630 genetic disease ISO RGD:734254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329345425 PLPP2 phospholipid phosphatase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734254 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 329345440 ARL4A ADP ribosylation factor like GTPase 4A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604399 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 329345440 ARL4A ADP ribosylation factor like GTPase 4A gene DOID:630 genetic disease ISO RGD:1604399 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329345444 BSG basigin (Ok blood group) gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:10249 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 329345444 BSG basigin (Ok blood group) gene DOID:0080600 COVID-19 ISO RGD:10249 D RGD:9068941 20230504 CTD CTD Direct Evidence: therapeutic PMID:32307653 329345444 BSG basigin (Ok blood group) gene DOID:14067 Plasmodium falciparum malaria ISO RGD:10249 D RGD:9068941 20230504 CTD CTD Direct Evidence: therapeutic PMID:22080952|PMID:26195724 329345444 BSG basigin (Ok blood group) gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:10249 D RGD:9068941 20230504 RGD PMID:17671123|REF_RGD_ID:2289051 329345444 BSG basigin (Ok blood group) gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:10249 D RGD:9068941 20230504 RGD protein:increased expression:endometrium PMID:17342307|REF_RGD_ID:2296029 329345444 BSG basigin (Ok blood group) gene DOID:3007 breast ductal carcinoma ISO RGD:10249 D RGD:9068941 20230504 RGD mRNA:increased expression:breast PMID:9154157|REF_RGD_ID:2289059 329345444 BSG basigin (Ok blood group) gene DOID:3907 lung squamous cell carcinoma ISO RGD:10249 D RGD:9068941 20230504 RGD mRNA:increased expression:lung PMID:9154157|REF_RGD_ID:2289059 329345444 BSG basigin (Ok blood group) gene DOID:4362 cervical cancer disease_progression ISO RGD:10249 D RGD:9068941 20230504 RGD PMID:18223224|REF_RGD_ID:2296028 329345444 BSG basigin (Ok blood group) gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:10249 D RGD:9068941 20230504 RGD protein:increased expression:kidney PMID:17021824|REF_RGD_ID:2289052 329345444 BSG basigin (Ok blood group) gene DOID:5744 ovary serous adenocarcinoma ISO RGD:10249 D RGD:9068941 20230504 RGD protein:increased expression:ovary PMID:16633062|REF_RGD_ID:2289053 329345444 BSG basigin (Ok blood group) gene DOID:630 genetic disease ISO RGD:10249 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329345444 BSG basigin (Ok blood group) gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:10249 D RGD:9068941 20230504 RGD associated with Breast Neoplasms PMID:16004819|REF_RGD_ID:2289055 329345444 BSG basigin (Ok blood group) gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:10249 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:18647594 329345444 BSG basigin (Ok blood group) gene DOID:9000965 Neoplasm Metastasis ISO RGD:10249 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:21956400 329345444 BSG basigin (Ok blood group) gene DOID:9002170 Experimental Neoplasms ISO RGD:10249 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:21165561 329345444 BSG basigin (Ok blood group) gene DOID:9002304 Prostatic Neoplasms ISO RGD:10249 D RGD:9068941 20230504 RGD PMID:16627983|REF_RGD_ID:2289054 329345444 BSG basigin (Ok blood group) gene DOID:9004009 Reperfusion Injury ISO RGD:2220 D RGD:9068941 20230504 RGD protein:increased expression:basal ganglia PMID:16029217|REF_RGD_ID:2289063 329345444 BSG basigin (Ok blood group) gene DOID:9004575 Neoplasm Invasiveness ISO RGD:10249 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:21165561 329345444 BSG basigin (Ok blood group) gene DOID:9007456 Female Infertility ISO RGD:10248 D RGD:9068941 20230504 RGD PMID:9559645|REF_RGD_ID:734663 329345473 GRIN3B glutamate ionotropic receptor NMDA type subunit 3B gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1353575 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 329345473 GRIN3B glutamate ionotropic receptor NMDA type subunit 3B gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1353575 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 329345473 GRIN3B glutamate ionotropic receptor NMDA type subunit 3B gene DOID:5339 cyclic hematopoiesis ISO RGD:1353575 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 329345473 GRIN3B glutamate ionotropic receptor NMDA type subunit 3B gene DOID:630 genetic disease ISO RGD:1353575 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329345473 GRIN3B glutamate ionotropic receptor NMDA type subunit 3B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353575 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 329345492 HNRNPCL1 heterogeneous nuclear ribonucleoprotein C like 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603848 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 329345492 HNRNPCL1 heterogeneous nuclear ribonucleoprotein C like 1 gene DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome ISO RGD:1603848 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mayer-Rokitansky-Kuster-Hauser syndrome PMID:25741868 329345492 HNRNPCL1 heterogeneous nuclear ribonucleoprotein C like 1 gene DOID:630 genetic disease ISO RGD:1603848 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329345508 ZNF664 zinc finger protein 664 gene DOID:630 genetic disease ISO RGD:1606961 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329345560 LOC129392907 olfactory receptor 2T4 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1351833 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 329345560 LOC129392907 olfactory receptor 2T4 gene DOID:1540 parathyroid carcinoma ISO RGD:1351833 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 329345560 LOC129392907 olfactory receptor 2T4 gene DOID:630 genetic disease ISO RGD:1351833 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329345560 LOC129392907 olfactory receptor 2T4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351833 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 329345560 LOC129392907 olfactory receptor 2T4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351833 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 329345651 ADIRF adipogenesis regulatory factor gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1348184 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 329345651 ADIRF adipogenesis regulatory factor gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1348184 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 329345651 ADIRF adipogenesis regulatory factor gene DOID:630 genetic disease ISO RGD:1348184 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329345662 GOLGA7B golgin A7 family member B gene DOID:630 genetic disease ISO RGD:1312882 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329345677 ZNF581 zinc finger protein 581 gene DOID:630 genetic disease ISO RGD:1343314 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329345700 ZNF593OS ZNF593 opposite strand gene DOID:630 genetic disease ISO RGD:39128265 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329345722 MAGIX MAGI family member, X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605344 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 329345722 MAGIX MAGI family member, X-linked gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1605344 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 329345722 MAGIX MAGI family member, X-linked gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1605344 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 329345722 MAGIX MAGI family member, X-linked gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1605344 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 329345722 MAGIX MAGI family member, X-linked gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1605344 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 329345722 MAGIX MAGI family member, X-linked gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1605344 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 329345722 MAGIX MAGI family member, X-linked gene DOID:12849 autistic disorder ISO RGD:1605344 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 329345722 MAGIX MAGI family member, X-linked gene DOID:630 genetic disease ISO RGD:1605344 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329345783 HRURF HR upstream open reading frame gene DOID:0050634 alopecia universalis ISO RGD:124713588 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Alopecia universalis congenita 329345783 HRURF HR upstream open reading frame gene DOID:0060689 atrichia with papular lesions ISO RGD:124713588 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Atrichia with papular lesions 329345783 HRURF HR upstream open reading frame gene DOID:0110701 hypotrichosis 4 ISO RGD:124713588 D RGD:7240710 20230505 OMIM 329345783 HRURF HR upstream open reading frame gene DOID:0110701 hypotrichosis 4 ISO RGD:124713588 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypotrichosis 4 PMID:10777357|PMID:10854110|PMID:11069461|PMID:17680008|PMID:19122663|PMID:19897589|PMID:20659777|PMID:20814945 329345848 SLC35A2 solute carrier family 35 member A2 gene DOID:0060179 Renpenning syndrome ISO RGD:1353471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Renpenning syndrome PMID:25741868|PMID:28492532|PMID:32903913 329345848 SLC35A2 solute carrier family 35 member A2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 329345848 SLC35A2 solute carrier family 35 member A2 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1353471 D RGD:7240710 20230505 OMIM 329345848 SLC35A2 solute carrier family 35 member A2 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1353471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CDG IIm | ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:23561849|PMID:24115232|PMID:25262651|PMID:25741868|PMID:25877686|PMID:26350515|PMID:26467025|PMID:28492532|PMID:28771251|PMID:29907092|PMID:30194038|PMID:30653653|PMID:30746764|PMID:30817854 329345848 SLC35A2 solute carrier family 35 member A2 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1353471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 329345848 SLC35A2 solute carrier family 35 member A2 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1353471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 329345848 SLC35A2 solute carrier family 35 member A2 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1353471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 329345848 SLC35A2 solute carrier family 35 member A2 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1353471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 329345848 SLC35A2 solute carrier family 35 member A2 gene DOID:12849 autistic disorder ISO RGD:1353471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 329345848 SLC35A2 solute carrier family 35 member A2 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1353471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868 329345848 SLC35A2 solute carrier family 35 member A2 gene DOID:630 genetic disease ISO RGD:1353471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 329345848 SLC35A2 solute carrier family 35 member A2 gene DOID:9001793 Generalized Epilepsy ISO RGD:1353471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 329345929 TRIM58 tripartite motif containing 58 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1349557 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 329345929 TRIM58 tripartite motif containing 58 gene DOID:1540 parathyroid carcinoma ISO RGD:1349557 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 329345929 TRIM58 tripartite motif containing 58 gene DOID:630 genetic disease ISO RGD:1349557 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329345929 TRIM58 tripartite motif containing 58 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349557 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 329345929 TRIM58 tripartite motif containing 58 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1349557 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome PMID:28492532 329345929 TRIM58 tripartite motif containing 58 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349557 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 329345940 LOC129398736 olfactory receptor 1J2 gene DOID:630 genetic disease ISO RGD:1347114 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329345955 SSTR5 somatostatin receptor 5 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736501 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 329345955 SSTR5 somatostatin receptor 5 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736501 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 329345955 SSTR5 somatostatin receptor 5 gene DOID:1824 status epilepticus ISO RGD:736501 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:18951627 329345955 SSTR5 somatostatin receptor 5 gene DOID:1826 epilepsy ISO RGD:736501 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 329345955 SSTR5 somatostatin receptor 5 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736501 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 329345955 SSTR5 somatostatin receptor 5 gene DOID:3312 bipolar disorder ISO RGD:736501 D RGD:9068941 20230504 RGD DNA:SNP, missense mutations, haplotype: :573G>A, p.L48M, p.P335L (human) PMID:12192619|REF_RGD_ID:1358589 329345955 SSTR5 somatostatin receptor 5 gene DOID:630 genetic disease ISO RGD:736501 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329345955 SSTR5 somatostatin receptor 5 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3765 D RGD:9068941 20230504 RGD PMID:7956902|REF_RGD_ID:2325008 329345968 P2RY8 P2Y receptor family member 8 gene DOID:12849 autistic disorder ISO RGD:1350225 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 329345968 P2RY8 P2Y receptor family member 8 gene DOID:13938 amenorrhea ISO RGD:1350225 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 329345968 P2RY8 P2Y receptor family member 8 gene DOID:9538 multiple myeloma ISO RGD:1350225 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Multiple myeloma 329345968 P2RY8 P2Y receptor family member 8 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1350225 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:19838194 329345983 GREP1 glycine rich extracellular protein 1 gene DOID:1749 squamous cell carcinoma ISO RGD:5683682 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:34652879 329345983 GREP1 glycine rich extracellular protein 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:5683682 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:34652879 329345983 GREP1 glycine rich extracellular protein 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:5683682 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:34652879 329345983 GREP1 glycine rich extracellular protein 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:5683682 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:34652879 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:734274 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:0050547 familial medullary thyroid carcinoma ISO RGD:734274 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary PMID:10330344|PMID:10443680|PMID:10861667|PMID:11139246|PMID:11159935|PMID:11719521|PMID:20301726|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32807182 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:734274 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy PMID:11668614 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:734274 D RGD:9068941 20230504 RGD PMID:17667845|REF_RGD_ID:5144120 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:0060180 colitis ISO RGD:620144 D RGD:9068941 20230504 RGD mRNA, protein:increased expression:neuron PMID:20638179|REF_RGD_ID:5684542 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:0070146 hereditary sensory neuropathy type 4 ISO RGD:734274 D RGD:7240710 20230505 OMIM 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:0070146 hereditary sensory neuropathy type 4 ISO RGD:734274 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: FAMILIAL DYSAUTONOMIA, TYPE II | ClinVar Annotator: match by term: HSAN 4 | ClinVar Annotator: match by term: HSAN Type IV | ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy 4 | ClinVar Annotator: match by term: Insensitivity to pain, congenital, with anhidrosis | ClinVar Annotator: match by term: Neuropathy, congenital sensory, with anhidrosis PMID:10090906|PMID:10233776|PMID:10330344|PMID:10443680|PMID:10861667|PMID:10982191|PMID:11071380|PMID:11139246|PMID:11159935|PMID:11310631|PMID:11668614|PMID:11719521|PMID:11748840|PMID:12210794|PMID:12406349|PMID:12949319|PMID:15534759|PMID:16199547|PMID:16373086|PMID:17576681|PMID:18056464|PMID:18162686|PMID:18179783|PMID:18322713|PMID:18955016|PMID:19250380|PMID:19598235|PMID:19618435|PMID:19651702|PMID:20003389|PMID:20301726|PMID:20647579|PMID:21708027|PMID:22032467|PMID:22302274|PMID:22397633|PMID:22653642|PMID:22957891|PMID:23112235|PMID:23241418|PMID:233776|PMID:23799134|PMID:24088041|PMID:24154508|PMID:24631696|PMID:25359976|PMID:25519000|PMID:25640679|PMID:25741868|PMID:26215504|PMID:26467025|PMID:26633545|PMID:26925801|PMID:27058611|PMID:27265460|PMID:27544236|PMID:27551041|PMID:27676246|PMID:27698470|PMID:27761255|PMID:28177573|PMID:28192073|PMID:28328124|PMID:28345382|PMID:28492532|PMID:28940190|PMID:28981924|PMID:29190530|PMID:29619836|PMID:29770739|PMID:30002500|PMID:30774415|PMID:31130284|PMID:32214227|PMID:32219930|PMID:32707409|PMID:32807182|PMID:32901917|PMID:33422294|PMID:33748046|PMID:3472625|PMID:77656|PMID:8696348|PMID:9536098 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:0080600 COVID-19 ISO RGD:734274 D RGD:9068941 20230504 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:734274 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:734274 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:734274 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:10487 Hirschsprung's disease ISO RGD:734274 D RGD:9068941 20230504 RGD protein:altered expression:intestine PMID:8943115|REF_RGD_ID:5684546 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:1059 intellectual disability ISO RGD:734274 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:734274 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10330344|PMID:10982191|PMID:11139246|PMID:11159935|PMID:11310631|PMID:11668614|PMID:11719521|PMID:12210794|PMID:12949319|PMID:15534759|PMID:16199547|PMID:16373086|PMID:18077166|PMID:18322713|PMID:18657423|PMID:21708027|PMID:22032467|PMID:22302274|PMID:22957891|PMID:23112235|PMID:24154508|PMID:24631696|PMID:25741868|PMID:27058611|PMID:27265460|PMID:27551041|PMID:27676246|PMID:27698470|PMID:28492532|PMID:28940190|PMID:28981924|PMID:29770739|PMID:32219930|PMID:32707409|PMID:3472625|PMID:77656 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:10652 Alzheimer's disease ISO RGD:734274 D RGD:9068941 20230504 RGD early onset sporadic AD; DNA:SNP:CDS:rs6336 PMID:18780967|REF_RGD_ID:5508228 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:734274 D RGD:9068941 20230504 RGD mRNA:decreased expression:brain PMID:21397006|REF_RGD_ID:5684531 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:12217 Lewy body dementia ISO RGD:734274 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:13406 pulmonary sarcoidosis ISO RGD:734274 D RGD:9068941 20230504 RGD protein:increased expression: : PMID:16315781|REF_RGD_ID:4891110 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:734274 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:1686 glaucoma ISO RGD:620144 D RGD:9068941 20230504 RGD PMID:20943663|REF_RGD_ID:5508695 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:1686 glaucoma ISO RGD:620144 D RGD:9068941 20230504 RGD mRNA,protein:decreased expression:eye PMID:18817846|REF_RGD_ID:5684379 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:1793 pancreatic cancer severity ISO RGD:734274 D RGD:9068941 20230504 RGD mRNA:increased expression:tumor:associated with increased tumor aggressiveness PMID:16704535|REF_RGD_ID:5508229 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:2394 ovarian cancer ISO RGD:734274 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:2468 psychotic disorder ISO RGD:734274 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:2841 asthma ISO RGD:1624082 D RGD:9068941 20230504 RGD PMID:20934630|REF_RGD_ID:5684766 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:2841 asthma ISO RGD:620144 D RGD:9068941 20230504 RGD mRNA:increased expression:lung: PMID:16708804|REF_RGD_ID:5684772 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:289 endometriosis ISO RGD:1624082 D RGD:9068941 20230504 RGD mRNA, protein:increased expression:spinal ganglia, uterus PMID:21385399|REF_RGD_ID:5684532 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:3070 high grade glioma ISO RGD:734274 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:24705251 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:734274 D RGD:9068941 20230504 RGD protein:increased expression:bronchiolar epithelial cell PMID:21429417|REF_RGD_ID:5684530 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:3310 atopic dermatitis ISO RGD:1624082 D RGD:9068941 20230504 RGD PMID:17223862|REF_RGD_ID:5684771 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:3310 atopic dermatitis ISO RGD:734274 D RGD:9068941 20230504 RGD protein:increased expression:eosinophil PMID:18647313|REF_RGD_ID:5144116 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:3312 bipolar disorder ISO RGD:734274 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:431 myofascial pain syndrome ISO RGD:620144 D RGD:9068941 20230504 RGD PMID:21719352|REF_RGD_ID:5684340 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:4483 rhinitis ISO RGD:734274 D RGD:9068941 20230504 RGD protein:increased expression:eosinophil PMID:18647313|REF_RGD_ID:5144116 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:5327 retinal detachment ISO RGD:620144 D RGD:9068941 20230504 RGD protein:increased expression:retina PMID:18097183|REF_RGD_ID:5684405 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:5419 schizophrenia ISO RGD:734274 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:5419 schizophrenia susceptibility ISO RGD:734274 D RGD:9068941 20230504 RGD DNA:SNPs:cds:rs6336, rs6339 PMID:21317683|REF_RGD_ID:5684534 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:734274 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868|PMID:28492532 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:5812 MHC class II deficiency ISO RGD:734274 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:630 genetic disease ISO RGD:734274 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10330344|PMID:10982191|PMID:11159935|PMID:11668614|PMID:11719521|PMID:11748840|PMID:12676795|PMID:12949319|PMID:16373086|PMID:18173729|PMID:19618435|PMID:19651702|PMID:23112235|PMID:23799134|PMID:25519000|PMID:25741868|PMID:26215504|PMID:26467025|PMID:27265460|PMID:27551041|PMID:27676246|PMID:28192073|PMID:28345382|PMID:28492532|PMID:29619836|PMID:29770739|PMID:30774415|PMID:32219930|PMID:32707409|PMID:32807182|PMID:35426680|PMID:8384556 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:769 neuroblastoma ISO RGD:734274 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:16989911 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:769 neuroblastoma disease_progression ISO RGD:734274 D RGD:9068941 20230504 RGD PMID:8433391|REF_RGD_ID:5684545 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:824 periodontitis ISO RGD:620144 D RGD:9068941 20230504 RGD protein:increased expression:neuron PMID:20200421|REF_RGD_ID:5684768 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620144 D RGD:9068941 20230504 RGD mRNA:decreased expression:spinal cord PMID:18585435|REF_RGD_ID:2308892 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:9000310 Lung Injury ISO RGD:734274 D RGD:9068941 20230504 CTD CTD Direct Evidence: therapeutic PMID:20075049 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:9002211 Hyperalgesia ISO RGD:620144 D RGD:9068941 20230504 RGD PMID:17667845|PMID:20351485|REF_RGD_ID:5144120|REF_RGD_ID:5684352 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:620144 D RGD:9068941 20230504 RGD mRNA:increased expression:brain subventricular zone: PMID:15589512|REF_RGD_ID:5684777 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620144 D RGD:9068941 20230504 RGD mRNA:increased expression:brain PMID:19633950|REF_RGD_ID:5684358 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734274 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620144 D RGD:9068941 20230504 RGD PMID:22044876|REF_RGD_ID:5684337 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620144 D RGD:9068941 20230504 RGD protein:increased tyrosine nitration, decreased tyrosine phosphorylation:retina PMID:21136036|REF_RGD_ID:5144144 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:9005968 Neuralgia ISO RGD:734274 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:18400411 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:9006101 Primary Ovarian Failure ISO RGD:734274 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary ovarian failure PMID:25741868|PMID:28492532 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:9008091 Optic Nerve Injuries ISO RGD:620144 D RGD:9068941 20230504 RGD PMID:20943663|REF_RGD_ID:5508695 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734274 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 329345987 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:9743 diabetic neuropathy ISO RGD:620144 D RGD:9068941 20230504 RGD mRNA,protein:decreased expression:dorsal root ganglia PMID:12469361|REF_RGD_ID:5508379 329345993 FSTL3 follistatin like 3 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1348302 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 329345993 FSTL3 follistatin like 3 gene DOID:5339 cyclic hematopoiesis ISO RGD:1348302 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 329345993 FSTL3 follistatin like 3 gene DOID:630 genetic disease ISO RGD:1348302 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329346032 SAGE1 sarcoma antigen 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352077 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 329346032 SAGE1 sarcoma antigen 1 gene DOID:12849 autistic disorder ISO RGD:1352077 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 329346032 SAGE1 sarcoma antigen 1 gene DOID:630 genetic disease ISO RGD:1352077 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329346035 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:0050127 sinusitis ISO RGD:1347084 D RGD:9068941 20230504 RGD protein:increased secretion:sinus mucus PMID:17063754|REF_RGD_ID:5131192 329346035 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1347084 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:21506741|PMID:21506748|PMID:23321605|PMID:23692170|PMID:23695349|PMID:23940607|PMID:24033266|PMID:25741868|PMID:25926289|PMID:28492532|PMID:30345907 329346035 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:0050156 idiopathic pulmonary fibrosis susceptibility ISO RGD:1347084 D RGD:7240710 20230505 OMIM 329346035 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1347084 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 329346035 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:0080773 delta beta-thalassemia ISO RGD:1347084 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 329346035 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:0111969 immunodeficiency 39 ISO RGD:1347084 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 329346035 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1347084 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 329346035 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:10140 dry eye syndrome ISO RGD:62293 D RGD:9068941 20230504 RGD PMID:23272068|REF_RGD_ID:7364762 329346035 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:10754 otitis media ISO RGD:1347084 D RGD:9068941 20230504 RGD mRNA:increased expression:middle ear PMID:14690056|REF_RGD_ID:7349395 329346035 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:10754 otitis media ISO RGD:1616427 D RGD:9068941 20230504 RGD associated with CHARGE Syndrome PMID:22539951|REF_RGD_ID:7349405 329346035 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:11054 urinary bladder cancer ISO RGD:1347084 D RGD:9068941 20230504 RGD DNA:repeats PMID:19191526|REF_RGD_ID:7349339 329346035 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1347084 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 329346035 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:1485 cystic fibrosis ISO RGD:1347084 D RGD:9068941 20230504 RGD PMID:17255563|REF_RGD_ID:5131191 329346035 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:1485 cystic fibrosis ISO RGD:1347084 D RGD:9068941 20230504 RGD protein:altered glycosylation:saliva PMID:11845304|REF_RGD_ID:5131194 329346035 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:2841 asthma ISO RGD:1347084 D RGD:9068941 20230504 RGD protein:altered expression:sputum PMID:11802783|REF_RGD_ID:5131252 329346035 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:2841 asthma ISO RGD:1623927 D RGD:9068941 20230504 RGD PMID:11587997|REF_RGD_ID:7364763 329346035 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:2942 bronchiolitis ISO RGD:1347084 D RGD:9068941 20230504 RGD DNA:polymorphisms:promoter:rs885454,rs17235353, rs7115457 (human) PMID:15709052|REF_RGD_ID:7349353 329346035 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1347084 D RGD:9068941 20230504 RGD protein:increased expression:sputum PMID:18776153|REF_RGD_ID:5131169 329346035 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1347084 D RGD:9068941 20230504 RGD mRNA:increased expression:pancreas PMID:7657125|REF_RGD_ID:2324986 329346035 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:4947 cholangiocarcinoma ISO RGD:1347084 D RGD:9068941 20230504 RGD mRNA:decreased expression:bile duct PMID:11680592|REF_RGD_ID:2324948 329346035 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:630 genetic disease ISO RGD:1347084 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266 329346035 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1347084 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 329346035 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:9007425 Diffuse Panbronchiolitis ISO RGD:1347084 D RGD:9068941 20230504 RGD DNA:insertion/deletion PMID:15709052|REF_RGD_ID:7349353 329346035 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:9008821 Otitis Media with Effusion ISO RGD:1347084 D RGD:9068941 20230504 RGD mRNA:increased expression:middle ear PMID:16540890|REF_RGD_ID:7364744 329346035 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:9008821 Otitis Media with Effusion ISO RGD:1551003 D RGD:9068941 20230504 RGD mRNA:decreased expression:ear PMID:22336013|REF_RGD_ID:7364764 329346035 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:9261 nasopharynx carcinoma ISO RGD:1561983 D RGD:9068941 20230504 RGD PMID:19068094|REF_RGD_ID:2325214 329346042 ISG15 ISG15 ubiquitin like modifier gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1321144 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 329346042 ISG15 ISG15 ubiquitin like modifier gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1321144 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 329346042 ISG15 ISG15 ubiquitin like modifier gene DOID:0080600 COVID-19 ISO RGD:1321144 D RGD:9068941 20230504 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 329346042 ISG15 ISG15 ubiquitin like modifier gene DOID:0110994 Joubert syndrome 25 ISO RGD:1321144 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 329346042 ISG15 ISG15 ubiquitin like modifier gene DOID:0111934 immunodeficiency 38 ISO RGD:1321144 D RGD:7240710 20230505 OMIM 329346042 ISG15 ISG15 ubiquitin like modifier gene DOID:0111934 immunodeficiency 38 ISO RGD:1321144 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:17576681|PMID:19492091|PMID:21031596|PMID:22859821|PMID:24033266|PMID:25307056|PMID:25741868|PMID:26477546|PMID:28492532|PMID:31674007|PMID:32402279|PMID:9536098|PMID:9683594 329346042 ISG15 ISG15 ubiquitin like modifier gene DOID:0111935 immunodeficiency 16 ISO RGD:1321144 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 329346042 ISG15 ISG15 ubiquitin like modifier gene DOID:1470 major depressive disorder ISO RGD:1321144 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:29175309 329346042 ISG15 ISG15 ubiquitin like modifier gene DOID:630 genetic disease ISO RGD:1321144 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 329346042 ISG15 ISG15 ubiquitin like modifier gene DOID:684 hepatocellular carcinoma ISO RGD:1321144 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:28919514 329346042 ISG15 ISG15 ubiquitin like modifier gene DOID:9001488 Human Influenza ISO RGD:1321144 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 329346042 ISG15 ISG15 ubiquitin like modifier gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1321144 D RGD:9068941 20230504 RGD PMID:28036111|REF_RGD_ID:40400915 329346042 ISG15 ISG15 ubiquitin like modifier gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321144 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 329346042 ISG15 ISG15 ubiquitin like modifier gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1310312 D RGD:9068941 20230504 RGD PMID:20973890|REF_RGD_ID:5490977 329346042 ISG15 ISG15 ubiquitin like modifier gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1321144 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 329346052 DEFB108B defensin beta 108B gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1606420 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 329346052 DEFB108B defensin beta 108B gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1606420 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 329346052 DEFB108B defensin beta 108B gene DOID:1059 intellectual disability ISO RGD:1606420 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability 329346052 DEFB108B defensin beta 108B gene DOID:630 genetic disease ISO RGD:1606420 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329346057 ZNF699 zinc finger protein 699 gene DOID:12849 autistic disorder ISO RGD:1605799 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 329346057 ZNF699 zinc finger protein 699 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1605799 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:25741868 329346057 ZNF699 zinc finger protein 699 gene DOID:630 genetic disease ISO RGD:1605799 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 329346057 ZNF699 zinc finger protein 699 gene DOID:9005153 DEGCAGS SYNDROME ISO RGD:1605799 D RGD:7240710 20230505 OMIM 329346057 ZNF699 zinc finger protein 699 gene DOID:9005153 DEGCAGS SYNDROME ISO RGD:1605799 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: DEGCAGS syndrome PMID:25741868|PMID:33875846 329346083 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0050650 familial atrial fibrillation ISO RGD:731917 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial atrial fibrillation PMID:25741868 329346083 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:731917 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 329346083 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0060224 atrial fibrillation ISO RGD:731917 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:15368194|PMID:16487223|PMID:18006559|PMID:22581653|PMID:24681347|PMID:25741868|PMID:28492532 329346083 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0060898 Parkinson's disease 20 ISO RGD:731917 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 329346083 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:731917 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 329346083 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:731917 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:15368194|PMID:16487223|PMID:22581653|PMID:24681347|PMID:25741868|PMID:28492532 329346083 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:731917 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10219239|PMID:10220144|PMID:10984545|PMID:14760488|PMID:15368194|PMID:15840476|PMID:16922724|PMID:17275752|PMID:18006462|PMID:19219384|PMID:19716085|PMID:20042375|PMID:20817017|PMID:22166675|PMID:22378279|PMID:22581653|PMID:22677073|PMID:23631430|PMID:23631727|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24403551|PMID:24569893|PMID:24631775|PMID:24796621|PMID:25333069|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26123744|PMID:26159999|PMID:26220970|PMID:26633542|PMID:26859003|PMID:27435932|PMID:27465075|PMID:27650965|PMID:27920829|PMID:28492532|PMID:28600387|PMID:28794082|PMID:29661707|PMID:29805884|PMID:30847666|PMID:30986657|PMID:31235733|PMID:31447099|PMID:31535183|PMID:31737537|PMID:32268277|PMID:33626434 329346083 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0110648 long QT syndrome 6 ISO RGD:731917 D RGD:7240710 20230505 OMIM 329346083 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0110648 long QT syndrome 6 ISO RGD:731917 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long QT syndrome 6 | ClinVar Annotator: match by term: Long QT syndrome 6, acquired, susceptibility to PMID:10219239|PMID:10220144|PMID:10973849|PMID:10984545|PMID:11034315|PMID:11101505|PMID:11468227|PMID:12185453|PMID:12402336|PMID:12923204|PMID:14661677|PMID:14760488|PMID:15368194|PMID:15599693|PMID:15840476|PMID:15913580|PMID:16000071|PMID:16414944|PMID:16487223|PMID:16922724|PMID:17161064|PMID:17210839|PMID:17275752|PMID:18006462|PMID:19219384|PMID:19716085|PMID:19841298|PMID:19863579|PMID:20042375|PMID:20817017|PMID:20981092|PMID:21626672|PMID:22166675|PMID:22378279|PMID:22581653|PMID:22677073|PMID:23098067|PMID:23382499|PMID:23465283|PMID:23631430|PMID:23631727|PMID:23861362|PMID:23890619|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24144883|PMID:24403551|PMID:24569893|PMID:24606995|PMID:24631775|PMID:24681347|PMID:24796621|PMID:25333069|PMID:25351510|PMID:25637381|PMID:25640679|PMID:25741868|PMID:26123744|PMID:26159999|PMID:26220970|PMID:26284702|PMID:26633542|PMID:26859003|PMID:27435932|PMID:27465075|PMID:27650965|PMID:27884173|PMID:27920829|PMID:28341588|PMID:28492532|PMID:28600387|PMID:28794082|PMID:29544605|PMID:29661707|PMID:29805884|PMID:30847666|PMID:30986657|PMID:31235733|PMID:31447099|PMID:31535183|PMID:31589614|PMID:31690835|PMID:31737537|PMID:32078429|PMID:32268277|PMID:33626434 329346083 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731917 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10220144|PMID:15368194|PMID:15840476|PMID:18006462|PMID:20817017|PMID:22166675|PMID:22581653|PMID:22677073|PMID:23631430|PMID:24033266|PMID:24403551|PMID:24796621|PMID:25741868|PMID:26123744|PMID:26633542|PMID:27650965|PMID:27920829|PMID:28492532|PMID:28600387|PMID:28794082|PMID:29805884|PMID:32268277 329346083 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:731917 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy 329346083 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:1588 thrombocytopenia ISO RGD:731917 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 329346083 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:2843 long QT syndrome ISO RGD:731917 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:10219239|PMID:10220144|PMID:10984545|PMID:11468227|PMID:12185453|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15368194|PMID:15599693|PMID:15840476|PMID:15913580|PMID:16922724|PMID:17161064|PMID:17210839|PMID:17275752|PMID:18006462|PMID:19219384|PMID:19716085|PMID:20042375|PMID:20817017|PMID:22166675|PMID:22378279|PMID:22581653|PMID:22677073|PMID:23465283|PMID:23631430|PMID:23631727|PMID:23861362|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24403551|PMID:24569893|PMID:24606995|PMID:24631775|PMID:24796621|PMID:25333069|PMID:25351510|PMID:25637381|PMID:25640679|PMID:25741868|PMID:26123744|PMID:26159999|PMID:26220970|PMID:26633542|PMID:26859003|PMID:27435932|PMID:27465075|PMID:27650965|PMID:27920829|PMID:28492532|PMID:28600387|PMID:28794082|PMID:29661707|PMID:29805884|PMID:30847666|PMID:30986657|PMID:31235733|PMID:31447099|PMID:31535183|PMID:31589614|PMID:31737537|PMID:32268277|PMID:33626434 329346083 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:3393 coronary artery disease ISO RGD:731917 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 329346083 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731917 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10219239|PMID:10973849|PMID:10984545|PMID:11034315|PMID:11101505|PMID:14760488|PMID:16922724|PMID:19219384|PMID:19716085|PMID:19841298|PMID:19863579|PMID:20042375|PMID:22378279|PMID:22581653|PMID:23098067|PMID:23382499|PMID:23631727|PMID:23861362|PMID:23936059|PMID:24055113|PMID:24144883|PMID:24569893|PMID:24606995|PMID:24631775|PMID:25333069|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26159999|PMID:26284702|PMID:26859003|PMID:27884173|PMID:28341588|PMID:28492532|PMID:28794082|PMID:29661707|PMID:31235733|PMID:31447099|PMID:31737537|PMID:33626434 329346083 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:731917 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:10219239 329346083 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9002643 Long QT Syndrome 3/6 ISO RGD:731917 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long QT syndrome 3/6, digenic PMID:16922724|PMID:22581653 329346083 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:731917 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy PMID:18478040|PMID:18487507|PMID:19357396|PMID:19679353|PMID:21626672|PMID:28492532 329346083 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:731917 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10219239|PMID:10220144|PMID:10984545|PMID:14760488|PMID:15368194|PMID:15840476|PMID:16922724|PMID:17275752|PMID:18006462|PMID:19219384|PMID:19716085|PMID:20042375|PMID:20817017|PMID:22166675|PMID:22378279|PMID:22581653|PMID:22677073|PMID:23631430|PMID:23631727|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24403551|PMID:24569893|PMID:24631775|PMID:24796621|PMID:25333069|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26123744|PMID:26159999|PMID:26220970|PMID:26633542|PMID:26859003|PMID:27435932|PMID:27465075|PMID:27650965|PMID:27920829|PMID:28492532|PMID:28600387|PMID:28794082|PMID:29661707|PMID:29805884|PMID:30847666|PMID:30986657|PMID:31235733|PMID:31447099|PMID:31535183|PMID:31737537|PMID:32268277|PMID:33626434 329346083 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9005392 Familial Atrial Fibrillation 4 ISO RGD:731917 D RGD:7240710 20230505 OMIM 329346083 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9005392 Familial Atrial Fibrillation 4 ISO RGD:731917 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 4 PMID:10219239|PMID:10973849|PMID:10984545|PMID:11034315|PMID:11101505|PMID:12923204|PMID:14661677|PMID:14760488|PMID:15368194|PMID:16000071|PMID:16487223|PMID:16922724|PMID:17210839|PMID:17275752|PMID:19219384|PMID:19716085|PMID:19841298|PMID:19863579|PMID:20042375|PMID:20981092|PMID:22378279|PMID:22581653|PMID:23098067|PMID:23382499|PMID:23465283|PMID:23631430|PMID:23861362|PMID:23890619|PMID:24055113|PMID:24144883|PMID:24606995|PMID:24631775|PMID:24681347|PMID:24796621|PMID:25637381|PMID:25741868|PMID:26159999|PMID:26220970|PMID:26284702|PMID:27435932|PMID:27465075|PMID:27884173|PMID:28341588|PMID:28492532|PMID:28794082|PMID:29544605|PMID:30847666|PMID:30986657|PMID:31535183 329346083 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9005698 ZTTK Syndrome ISO RGD:731917 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 329346132 GNG5B G protein subunit gamma 5B gene DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ISO RGD:1626539 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 329346132 GNG5B G protein subunit gamma 5B gene DOID:12849 autistic disorder ISO RGD:1626539 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 329346132 GNG5B G protein subunit gamma 5B gene DOID:5419 schizophrenia ISO RGD:1626539 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 329346141 PSORS1C1 psoriasis susceptibility 1 candidate 1 gene DOID:0050553 JMP syndrome ISO RGD:1343678 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 329346141 PSORS1C1 psoriasis susceptibility 1 candidate 1 gene DOID:0110699 hypotrichosis 2 ISO RGD:1343678 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypotrichosis 2 PMID:10793007|PMID:12754508|PMID:25741868|PMID:28492532|PMID:3652491 329346141 PSORS1C1 psoriasis susceptibility 1 candidate 1 gene DOID:11372 megacolon ISO RGD:1343678 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 329346141 PSORS1C1 psoriasis susceptibility 1 candidate 1 gene DOID:13241 Behcet's disease ISO RGD:1343678 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:23396137 329346141 PSORS1C1 psoriasis susceptibility 1 candidate 1 gene DOID:418 systemic scleroderma ISO RGD:1343678 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:21750679 329346141 PSORS1C1 psoriasis susceptibility 1 candidate 1 gene DOID:630 genetic disease ISO RGD:1343678 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329346141 PSORS1C1 psoriasis susceptibility 1 candidate 1 gene DOID:9002384 Peeling Skin Syndrome 1 ISO RGD:1343678 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Peeling skin syndrome 1 PMID:20691404|PMID:21191406|PMID:22146835|PMID:23957618|PMID:2434123|PMID:25741868|PMID:28492532|PMID:31690835 329346245 PLGLB2 plasminogen like B2 gene DOID:630 genetic disease ISO RGD:1606838 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329346271 SLC25A6 solute carrier family 25 member 6 gene DOID:12849 autistic disorder ISO RGD:1349745 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 329346341 GAS6 growth arrest specific 6 gene DOID:0060903 thrombosis ISO RGD:736280 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:11175853|PMID:15130911|PMID:15733062|PMID:16564713 329346341 GAS6 growth arrest specific 6 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:736280 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 329346341 GAS6 growth arrest specific 6 gene DOID:2222 factor X deficiency ISO RGD:736280 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 329346341 GAS6 growth arrest specific 6 gene DOID:2921 glomerulonephritis ISO RGD:61913 D RGD:9068941 20230504 RGD PMID:11290560|REF_RGD_ID:1579882 329346341 GAS6 growth arrest specific 6 gene DOID:3021 acute kidney failure ISO RGD:736280 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:19564549 329346341 GAS6 growth arrest specific 6 gene DOID:630 genetic disease ISO RGD:736280 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329346341 GAS6 growth arrest specific 6 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736280 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:12644472 329346341 GAS6 growth arrest specific 6 gene DOID:9002514 Neointima ISO RGD:61913 D RGD:9068941 20230504 RGD PMID:9758639|REF_RGD_ID:631894 329346341 GAS6 growth arrest specific 6 gene DOID:9003121 Thromboembolism ISO RGD:736280 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:16564713 329346341 GAS6 growth arrest specific 6 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:736280 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 329346341 GAS6 growth arrest specific 6 gene DOID:9003936 Cardiomegaly ISO RGD:736280 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:19564549 329346341 GAS6 growth arrest specific 6 gene DOID:9004484 Sepsis ISO RGD:736280 D RGD:9068941 20230504 RGD PMID:16374177|REF_RGD_ID:1579935 329346341 GAS6 growth arrest specific 6 gene DOID:9007096 Stroke ISO RGD:736280 D RGD:9068941 20230504 RGD PMID:15108283|REF_RGD_ID:1579883 329346342 C17H17orf100 chromosome 17 C17orf100 homolog gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:2299982 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:28492532 329346342 C17H17orf100 chromosome 17 C17orf100 homolog gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:2299982 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 329346342 C17H17orf100 chromosome 17 C17orf100 homolog gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:2299982 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 329346342 C17H17orf100 chromosome 17 C17orf100 homolog gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:2299982 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 329346387 LOC129398346 uncharacterized LOC129398346 gene DOID:5419 schizophrenia ISO RGD:155782930 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 329346391 RPS4Y1 ribosomal protein S4 Y-linked 1 gene DOID:12849 autistic disorder ISO RGD:1344298 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 329346396 TAL2 TAL bHLH transcription factor 2 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1351744 D RGD:9068941 20230504 RGD PMID:1763056|REF_RGD_ID:1599285 329346396 TAL2 TAL bHLH transcription factor 2 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1351744 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:10545611|PMID:17044012|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19266496|PMID:27065010|PMID:28492532 329346396 TAL2 TAL bHLH transcription factor 2 gene DOID:630 genetic disease ISO RGD:1351744 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329346396 TAL2 TAL bHLH transcription factor 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1351744 D RGD:7240710 20230505 OMIM 329346413 CRIP1 cysteine rich protein 1 gene DOID:630 genetic disease ISO RGD:1348993 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329346440 SLC22A31 solute carrier family 22 member 31 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:5135309 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 329346440 SLC22A31 solute carrier family 22 member 31 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:5135309 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 329346440 SLC22A31 solute carrier family 22 member 31 gene DOID:14780 KBG syndrome ISO RGD:5135309 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316|PMID:31690835 329346440 SLC22A31 solute carrier family 22 member 31 gene DOID:630 genetic disease ISO RGD:5135309 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329346440 SLC22A31 solute carrier family 22 member 31 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:5135309 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 329346449 GATA5 GATA binding protein 5 gene DOID:0050650 familial atrial fibrillation ISO RGD:1354270 D RGD:9068941 20230504 RGD DNA:mutations:cds: c.413A>T(p.Y138F), c.628T>G (p.C210G)(human) PMID:23295592|REF_RGD_ID:155260349 329346449 GATA5 GATA binding protein 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1354270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 329346449 GATA5 GATA binding protein 5 gene DOID:0060224 atrial fibrillation ISO RGD:1354270 D RGD:9068941 20230504 RGD DNA:mutation:cds:c.598T>G (p.W200G)(human) PMID:23175127|REF_RGD_ID:155260351 329346449 GATA5 GATA binding protein 5 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:1354270 D RGD:9068941 20230504 RGD DNA:mutations:cds:c.46T>G (p.Y16D), c.754A>C ((p.T252P)(human) PMID:24638895|REF_RGD_ID:155260354 329346449 GATA5 GATA binding protein 5 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:1558341 D RGD:9068941 20230504 RGD PMID:22536403|REF_RGD_ID:329337340 329346449 GATA5 GATA binding protein 5 gene DOID:0080332 bicuspid aortic valve disease exacerbates ISO RGD:1558341 D RGD:9068941 20230504 RGD PMID:21633169|REF_RGD_ID:155260352 329346449 GATA5 GATA binding protein 5 gene DOID:0080333 aortic valve disease 1 ISO RGD:1354270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Aortic valve disease 1 PMID:28387797|PMID:28492532|PMID:30675029 329346449 GATA5 GATA binding protein 5 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1354270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 329346449 GATA5 GATA binding protein 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1354270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 329346449 GATA5 GATA binding protein 5 gene DOID:10763 hypertension susceptibility ISO RGD:1354270 D RGD:9068941 20230504 RGD DNA:SNPs:intron, exon:rs6061245,rs6587239 (human) PMID:26617239|REF_RGD_ID:11343485 329346449 GATA5 GATA binding protein 5 gene DOID:10825 essential hypertension ISO RGD:1558341 D RGD:9068941 20230504 MouseDO OMIM:145500 | OMIM:603918 | OMIM:604329 | OMIM:607329 | OMIM:608742 | OMIM:610261 | OMIM:610262 | OMIM:610948 | OMIM:611014 329346449 GATA5 GATA binding protein 5 gene DOID:10825 essential hypertension ISO RGD:1558341 D RGD:9068941 20230504 RGD PMID:26617239|REF_RGD_ID:11343485 329346449 GATA5 GATA binding protein 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:1354270 D RGD:9068941 20230504 RGD DNA:mutation:cds;c.719G>A(p.Gly240Asp)(human) PMID:25543888|REF_RGD_ID:155260333 329346449 GATA5 GATA binding protein 5 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1354270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:22641149|PMID:28492532 329346449 GATA5 GATA binding protein 5 gene DOID:1657 ventricular septal defect ISO RGD:1354270 D RGD:9068941 20230504 RGD DNA:mutation:cds:c.595C>G (p.L199V)(human) PMID:22961344|REF_RGD_ID:155260356 329346449 GATA5 GATA binding protein 5 gene DOID:1657 ventricular septal defect ISO RGD:1558341 D RGD:9068941 20230504 RGD PMID:22536403|REF_RGD_ID:329337340 329346449 GATA5 GATA binding protein 5 gene DOID:630 genetic disease ISO RGD:1354270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22641149|PMID:23040494|PMID:25741868|PMID:27066509|PMID:28180938|PMID:28492532 329346449 GATA5 GATA binding protein 5 gene DOID:6419 tetralogy of Fallot ISO RGD:1354270 D RGD:9068941 20230504 RGD DNA:mutations:cds:c.559C>G,p.R187G, c.620A>G, p.H207R (human) PMID:23289003|REF_RGD_ID:155260350 329346449 GATA5 GATA binding protein 5 gene DOID:9001528 ARTERIAL DISSECTION ISO RGD:1354270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Arterial dissection PMID:28492532 329346449 GATA5 GATA binding protein 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1354270 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:19509152 329346449 GATA5 GATA binding protein 5 gene DOID:9009140 Congenital Heart Defects, Multiple Types, 5 ISO RGD:1354270 D RGD:7240710 20230505 OMIM 329346449 GATA5 GATA binding protein 5 gene DOID:9009140 Congenital Heart Defects, Multiple Types, 5 ISO RGD:1354270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 5 PMID:22641149|PMID:22961344|PMID:23031282|PMID:23040494|PMID:23175127|PMID:24638895|PMID:25741868|PMID:27066509|PMID:28180938|PMID:28492532 329346449 GATA5 GATA binding protein 5 gene DOID:9408 acute myocardial infarction susceptibility ISO RGD:1354270 D RGD:9068941 20230504 RGD DNA:SNPs:promoter:rs80197101, rs77067995 (human) PMID:33684162|REF_RGD_ID:155260335 329346456 CDH15 cadherin 15 gene DOID:0070033 autosomal dominant intellectual developmental disorder 3 ISO RGD:1353127 D RGD:7240710 20230505 OMIM 329346456 CDH15 cadherin 15 gene DOID:0070033 autosomal dominant intellectual developmental disorder 3 ISO RGD:1353127 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 3 PMID:18414213|PMID:19012874|PMID:25741868|PMID:28492532 329346456 CDH15 cadherin 15 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1353127 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 329346456 CDH15 cadherin 15 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1353127 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 329346456 CDH15 cadherin 15 gene DOID:1059 intellectual disability ISO RGD:1353127 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 329346456 CDH15 cadherin 15 gene DOID:11612 polycystic ovary syndrome ISO RGD:1353127 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 329346456 CDH15 cadherin 15 gene DOID:14780 KBG syndrome ISO RGD:1353127 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316|PMID:31690835 329346456 CDH15 cadherin 15 gene DOID:630 genetic disease ISO RGD:1353127 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 329346456 CDH15 cadherin 15 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1353127 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 329346477 SLC6A8 solute carrier family 6 member 8 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1342978 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 329346477 SLC6A8 solute carrier family 6 member 8 gene DOID:0050476 Barth syndrome ISO RGD:1342978 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 329346477 SLC6A8 solute carrier family 6 member 8 gene DOID:0050800 creatine transporter deficiency ISO RGD:1342978 D RGD:7240710 20230505 OMIM 329346477 SLC6A8 solute carrier family 6 member 8 gene DOID:0050800 creatine transporter deficiency ISO RGD:1342978 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Creatine deficiency syndrome 1 | ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11326334|PMID:11748843|PMID:11898126|PMID:11968085|PMID:12536364|PMID:12544242|PMID:12889669|PMID:15154114|PMID:15351775|PMID:15689435|PMID:15690373|PMID:15857409|PMID:16080119|PMID:16086185|PMID:16199547|PMID:16427346|PMID:16601897|PMID:16684786|PMID:16738945|PMID:17088400|PMID:17101918|PMID:17172942|PMID:17465020|PMID:17553121|PMID:17576681|PMID:18047645|PMID:18414213|PMID:19188083|PMID:19396829|PMID:19763152|PMID:19846429|PMID:20307669|PMID:20717164|PMID:20730588|PMID:21140503|PMID:21267006|PMID:21556832|PMID:21836662|PMID:21910234|PMID:22281021|PMID:22382802|PMID:22406018|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23408511|PMID:23409742|PMID:23644449|PMID:23660394|PMID:24190795|PMID:24365856|PMID:24962355|PMID:25326635|PMID:25590979|PMID:25741868|PMID:25803912|PMID:25861866|PMID:26467025|PMID:26471271|PMID:26930212|PMID:27408820|PMID:28065824|PMID:28492532|PMID:29334594|PMID:29429461|PMID:30885608|PMID:32207963|PMID:32434645|PMID:32860008|PMID:33624935|PMID:34395220|PMID:9384614|PMID:9536098 329346477 SLC6A8 solute carrier family 6 member 8 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342978 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 329346477 SLC6A8 solute carrier family 6 member 8 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1342978 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 329346477 SLC6A8 solute carrier family 6 member 8 gene DOID:0112003 immunodeficiency 33 ISO RGD:1342978 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 329346477 SLC6A8 solute carrier family 6 member 8 gene DOID:0112123 deafness, dystonia, and cerebral hypomyelination ISO RGD:1342978 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome PMID:24011989 329346477 SLC6A8 solute carrier family 6 member 8 gene DOID:10588 adrenoleukodystrophy ISO RGD:1342978 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 329346477 SLC6A8 solute carrier family 6 member 8 gene DOID:1059 intellectual disability ISO RGD:1342978 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:11326334|PMID:12536364|PMID:12544242|PMID:19188083|PMID:22281021|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30885608|PMID:32207963|PMID:33624935 329346477 SLC6A8 solute carrier family 6 member 8 gene DOID:1059 intellectual disability susceptibility ISO RGD:1342978 D RGD:9068941 20230504 RGD DNA:point mutation: ; 1141G>C PMID:11898126|REF_RGD_ID:1600037 329346477 SLC6A8 solute carrier family 6 member 8 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1342978 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 329346477 SLC6A8 solute carrier family 6 member 8 gene DOID:12849 autistic disorder ISO RGD:1342978 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 329346477 SLC6A8 solute carrier family 6 member 8 gene DOID:13628 favism ISO RGD:1342978 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 329346477 SLC6A8 solute carrier family 6 member 8 gene DOID:1824 status epilepticus ISO RGD:619711 D RGD:9068941 20230504 RGD PMID:20979657|REF_RGD_ID:11565113 329346477 SLC6A8 solute carrier family 6 member 8 gene DOID:1826 epilepsy ISO RGD:1342978 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 329346477 SLC6A8 solute carrier family 6 member 8 gene DOID:2729 dyskeratosis congenita ISO RGD:1342978 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 329346477 SLC6A8 solute carrier family 6 member 8 gene DOID:607 paraplegia ISO RGD:1342978 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 329346477 SLC6A8 solute carrier family 6 member 8 gene DOID:630 genetic disease ISO RGD:1342978 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11326334|PMID:12536364|PMID:12544242|PMID:15154114|PMID:16199547|PMID:16738945|PMID:17465020|PMID:18414213|PMID:20717164|PMID:21910234|PMID:22281021|PMID:25741868|PMID:25861866|PMID:26467025|PMID:28492532|PMID:34395220 329346477 SLC6A8 solute carrier family 6 member 8 gene DOID:9002720 Splenomegaly ISO RGD:1342978 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 329346477 SLC6A8 solute carrier family 6 member 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342978 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 329346477 SLC6A8 solute carrier family 6 member 8 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1342978 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:18350323 329346477 SLC6A8 solute carrier family 6 member 8 gene DOID:9008086 Developmental Disabilities ISO RGD:1342978 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:11326334 329346477 SLC6A8 solute carrier family 6 member 8 gene DOID:9008582 Developmental Disease ISO RGD:1342978 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 329346484 FAM246A family with sequence similarity 246 member A gene DOID:12849 autistic disorder ISO RGD:26923911 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 329346484 FAM246A family with sequence similarity 246 member A gene DOID:5419 schizophrenia ISO RGD:26923911 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 329346544 C1QTNF12 C1q and TNF related 12 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1603827 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 329346544 C1QTNF12 C1q and TNF related 12 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603827 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 329346544 C1QTNF12 C1q and TNF related 12 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1603827 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 329346544 C1QTNF12 C1q and TNF related 12 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1603827 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 329346544 C1QTNF12 C1q and TNF related 12 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1603827 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 329346544 C1QTNF12 C1q and TNF related 12 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1603827 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 329346544 C1QTNF12 C1q and TNF related 12 gene DOID:0111934 immunodeficiency 38 ISO RGD:1603827 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 329346544 C1QTNF12 C1q and TNF related 12 gene DOID:0111935 immunodeficiency 16 ISO RGD:1603827 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 329346544 C1QTNF12 C1q and TNF related 12 gene DOID:630 genetic disease ISO RGD:1603827 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329346544 C1QTNF12 C1q and TNF related 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603827 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 329346544 C1QTNF12 C1q and TNF related 12 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1603827 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 329346544 C1QTNF12 C1q and TNF related 12 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1603827 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 329346568 LOC129392952 olfactory receptor 1L1 gene DOID:630 genetic disease ISO RGD:1352426 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329346591 TEKT4 tektin 4 gene DOID:630 genetic disease ISO RGD:1604519 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329346613 RPS4Y2 ribosomal protein S4 Y-linked 2 gene DOID:0070187 Y-linked spermatogenic failure 2 ISO RGD:1353093 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism 329346613 RPS4Y2 ribosomal protein S4 Y-linked 2 gene DOID:12849 autistic disorder ISO RGD:1353093 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 329346621 BLACAT1 BLACAT1 overlapping LEMD1 locus gene DOID:12849 autistic disorder ISO RGD:7245155 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 329346739 LOC129394935 uncharacterized LOC129394935 gene DOID:0110128 Bardet-Biedl syndrome 6 ISO RGD:156430343 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 6 329346739 LOC129394935 uncharacterized LOC129394935 gene DOID:0111255 McKusick-Kaufman syndrome ISO RGD:156430343 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: McKusick-Kaufman syndrome 329346739 LOC129394935 uncharacterized LOC129394935 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:156430343 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 329346739 LOC129394935 uncharacterized LOC129394935 gene DOID:9245 Alagille syndrome ISO RGD:156430343 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:10213047|PMID:16575836|PMID:19058200|PMID:22382802|PMID:28492532 329346817 ZC3H11B zinc finger CCCH-type containing 11B gene DOID:0050439 Usher syndrome ISO RGD:1603332 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 329346834 XKR3 XK related 3 gene DOID:630 genetic disease ISO RGD:1602431 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329346834 XKR3 XK related 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602431 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 329346913 RECQL4 RecQ like helicase 4 gene DOID:0050654 Baller-Gerold syndrome ISO RGD:1317096 D RGD:7240710 20230505 OMIM 329346913 RECQL4 RecQ like helicase 4 gene DOID:0050654 Baller-Gerold syndrome ISO RGD:1317096 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome | ClinVar Annotator: match by term: Craniosynostosis with radial defects PMID:10319867|PMID:10678659|PMID:12734318|PMID:12838562|PMID:12952869|PMID:15221963|PMID:15897384|PMID:15964893|PMID:16199547|PMID:16630167|PMID:17250521|PMID:17250975|PMID:17372760|PMID:17576681|PMID:18504617|PMID:18616953|PMID:18716613|PMID:19291770|PMID:20503338|PMID:21143835|PMID:21418107|PMID:22730300|PMID:22885111|PMID:23238538|PMID:23899764|PMID:24033266|PMID:24518840|PMID:24635570|PMID:24728327|PMID:25120469|PMID:25326635|PMID:25640679|PMID:25741868|PMID:25966250|PMID:26491355|PMID:26556299|PMID:27247962|PMID:27352193|PMID:27425854|PMID:27498913|PMID:28039508|PMID:28076423|PMID:28202063|PMID:28358413|PMID:28486640|PMID:28492532|PMID:28653661|PMID:28724667|PMID:28767289|PMID:28825054|PMID:28873162|PMID:29168297|PMID:29367366|PMID:29462647|PMID:29478780|PMID:29506128|PMID:29625052|PMID:29641532|PMID:29642415|PMID:30007837|PMID:30086788|PMID:30262796|PMID:30306255|PMID:30651579|PMID:30680959|PMID:30724488|PMID:30995915|PMID:31604778|PMID:31829210|PMID:32139749|PMID:32482547|PMID:32659497|PMID:32659967|PMID:32729250|PMID:33046774|PMID:33077847|PMID:33144682|PMID:33294214|PMID:33606809|PMID:33674555|PMID:34006472|PMID:34155702|PMID:34308366|PMID:9536098|PMID:9878247 329346913 RECQL4 RecQ like helicase 4 gene DOID:0050774 rapadilino syndrome ISO RGD:1317096 D RGD:7240710 20230505 OMIM 329346913 RECQL4 RecQ like helicase 4 gene DOID:0050774 rapadilino syndrome ISO RGD:1317096 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Rapadilino syndrome PMID:10319867|PMID:10678659|PMID:12734318|PMID:12838562|PMID:12952869|PMID:15964893|PMID:16199547|PMID:17250975|PMID:18504617|PMID:18716613|PMID:19291770|PMID:22885111|PMID:23238538|PMID:24033266|PMID:24518840|PMID:24635570|PMID:24728327|PMID:25741868|PMID:25966250|PMID:27247962|PMID:28486640|PMID:28492532|PMID:29478780|PMID:29625052|PMID:32482547|PMID:33046774|PMID:33077847|PMID:33294214|PMID:9878247 329346913 RECQL4 RecQ like helicase 4 gene DOID:0080645 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 ISO RGD:1317096 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 PMID:10678659|PMID:12734318|PMID:12838562|PMID:15964893|PMID:18716613|PMID:25741868 329346913 RECQL4 RecQ like helicase 4 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1317096 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 329346913 RECQL4 RecQ like helicase 4 gene DOID:1612 breast cancer ISO RGD:1317096 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532 329346913 RECQL4 RecQ like helicase 4 gene DOID:1907 malignant fibrous histiocytoma ISO RGD:1317096 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant fibrous histiocytoma PMID:12734318|PMID:12952869|PMID:25741868|PMID:28492532 329346913 RECQL4 RecQ like helicase 4 gene DOID:2394 ovarian cancer ISO RGD:1317096 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:15221963|PMID:24728327|PMID:25741868|PMID:26491355|PMID:28202063|PMID:28492532 329346913 RECQL4 RecQ like helicase 4 gene DOID:2732 Rothmund-Thomson syndrome ISO RGD:1317096 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Rothmund-Thomson syndrome PMID:10319867|PMID:10678659|PMID:12734318|PMID:12838562|PMID:12952869|PMID:15964893|PMID:17250521|PMID:18716613|PMID:21418107|PMID:24033266|PMID:24635570|PMID:25120469|PMID:25326635|PMID:25741868|PMID:27247962|PMID:28492532|PMID:29367366|PMID:29642415 329346913 RECQL4 RecQ like helicase 4 gene DOID:3374 peripheral osteosarcoma ISO RGD:1317096 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: High grade surface osteosarcoma PMID:10678659|PMID:12734318|PMID:12838562|PMID:15964893|PMID:18716613|PMID:25741868 329346913 RECQL4 RecQ like helicase 4 gene DOID:4621 holoprosencephaly ISO RGD:1317096 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 329346913 RECQL4 RecQ like helicase 4 gene DOID:630 genetic disease ISO RGD:1317096 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10319867|PMID:10678659|PMID:12734318|PMID:12838562|PMID:12952869|PMID:15964893|PMID:18716613|PMID:21418107|PMID:24635570|PMID:24728327|PMID:25120469|PMID:25741868|PMID:27247962|PMID:28492532|PMID:28767289|PMID:29367366|PMID:29641532|PMID:29642415|PMID:30306255|PMID:30651579|PMID:30680959|PMID:32139749|PMID:32659497 329346913 RECQL4 RecQ like helicase 4 gene DOID:687 hepatoblastoma ISO RGD:1317096 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 329346913 RECQL4 RecQ like helicase 4 gene DOID:9005992 Rothmund-Thomson Syndrome Type 2 ISO RGD:1317096 D RGD:7240710 20230505 OMIM 329346913 RECQL4 RecQ like helicase 4 gene DOID:9005992 Rothmund-Thomson Syndrome Type 2 ISO RGD:1317096 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Rothmund-Thomson syndrome type 2 PMID:10319867|PMID:10678659|PMID:12734318|PMID:12838562|PMID:12952869|PMID:15964893|PMID:16199547|PMID:17576681|PMID:18504617|PMID:18616953|PMID:18716613|PMID:19291770|PMID:20503338|PMID:21143835|PMID:21418107|PMID:23238538|PMID:24033266|PMID:24518840|PMID:24635570|PMID:24728327|PMID:25120469|PMID:25741868|PMID:27247962|PMID:28039508|PMID:28486640|PMID:28492532|PMID:28767289|PMID:28873162|PMID:29168297|PMID:29478780|PMID:29625052|PMID:29641532|PMID:29642415|PMID:30086788|PMID:30306255|PMID:30680959|PMID:30724488|PMID:31604778|PMID:32139749|PMID:32482547|PMID:32659497|PMID:33046774|PMID:33077847|PMID:33294214|PMID:34308366|PMID:9536098|PMID:9878247 329346913 RECQL4 RecQ like helicase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317096 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10319867|PMID:12734318|PMID:12838562|PMID:12952869|PMID:15221963|PMID:15964893|PMID:16199547|PMID:17576681|PMID:18716613|PMID:19291770|PMID:21418107|PMID:24518840|PMID:24635570|PMID:24728327|PMID:25120469|PMID:25741868|PMID:26491355|PMID:27247962|PMID:27425854|PMID:28202063|PMID:28486640|PMID:28492532|PMID:28724667|PMID:28767289|PMID:28873162|PMID:29367366|PMID:29478780|PMID:29625052|PMID:29641532|PMID:29642415|PMID:30306255|PMID:30680959|PMID:30724488|PMID:31829210|PMID:32139749|PMID:32482547|PMID:32659497|PMID:32659967|PMID:32729250|PMID:33077847|PMID:33294214|PMID:33606809|PMID:33674555|PMID:9536098|PMID:9878247 329346913 RECQL4 RecQ like helicase 4 gene DOID:9008840 DNA Repair-Deficiency Disorders ISO RGD:1317097 D RGD:9068941 20230504 RGD PMID:25859855|REF_RGD_ID:13207506 329346913 RECQL4 RecQ like helicase 4 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1317096 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 329346913 RECQL4 RecQ like helicase 4 gene DOID:9538 multiple myeloma ISO RGD:1317096 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Multiple myeloma PMID:28492532 329346930 LOC129395408 uncharacterized LOC129395408 gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:155782971 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:9383023 329346930 LOC129395408 uncharacterized LOC129395408 gene DOID:12849 autistic disorder ISO RGD:155782971 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 329346986 FAM167B family with sequence similarity 167 member B gene DOID:630 genetic disease ISO RGD:1606487 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329346986 FAM167B family with sequence similarity 167 member B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606487 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 329347035 RAB40B RAB40B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1313826 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329347035 RAB40B RAB40B, member RAS oncogene family gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313826 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 329347111 FOXG1 forkhead box G1 gene DOID:0060041 autism spectrum disorder ISO RGD:737514 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 329347111 FOXG1 forkhead box G1 gene DOID:0070297 primary microcephaly ISO RGD:737514 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:25741868 329347111 FOXG1 forkhead box G1 gene DOID:1059 intellectual disability ISO RGD:737514 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Severe intellectual deficiency PMID:18414213|PMID:25741868|PMID:28492532|PMID:28661489|PMID:28708303 329347111 FOXG1 forkhead box G1 gene DOID:10907 microcephaly ISO RGD:737514 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital microcephaly PMID:25741868 329347111 FOXG1 forkhead box G1 gene DOID:1206 Rett syndrome ISO RGD:737514 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:25741868 329347111 FOXG1 forkhead box G1 gene DOID:1826 epilepsy ISO RGD:737514 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 329347111 FOXG1 forkhead box G1 gene DOID:630 genetic disease ISO RGD:737514 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1356269|PMID:18414213|PMID:19564653|PMID:19578037|PMID:19806373|PMID:21280142|PMID:21441262|PMID:21488007|PMID:22190898|PMID:23757202|PMID:24836831|PMID:25356899|PMID:25741868|PMID:26344814|PMID:26467025|PMID:26633542|PMID:26845707|PMID:27029630|PMID:28492532|PMID:28628100|PMID:28661489|PMID:28851325|PMID:29655203|PMID:30533527|PMID:30792901|PMID:8332212 329347111 FOXG1 forkhead box G1 gene DOID:863 nervous system disease ISO RGD:737514 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:23203475 329347111 FOXG1 forkhead box G1 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:737514 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:19806373|PMID:21441262|PMID:22190898|PMID:23757202|PMID:24836831|PMID:25741868|PMID:26344814|PMID:28492532|PMID:28661489|PMID:28851325|PMID:30533527 329347111 FOXG1 forkhead box G1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737514 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 329347111 FOXG1 forkhead box G1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:737514 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 329347111 FOXG1 forkhead box G1 gene DOID:9006534 Nervous System Malformations ISO RGD:737514 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:20734096|PMID:22129046|PMID:22739344|PMID:22968132|PMID:25741868|PMID:28492532|PMID:28661489 329347111 FOXG1 forkhead box G1 gene DOID:9008086 Developmental Disabilities ISO RGD:737514 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:19578037|PMID:25741868|PMID:28492532|PMID:28661489|PMID:32581362 329347111 FOXG1 forkhead box G1 gene DOID:9008979 Rett Syndrome, Congenital Variant ISO RGD:737514 D RGD:7240710 20230505 OMIM 329347111 FOXG1 forkhead box G1 gene DOID:9008979 Rett Syndrome, Congenital Variant ISO RGD:737514 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: FOXG1 disorder | ClinVar Annotator: match by term: Rett syndrome, congenital variant PMID:18414213|PMID:18571142|PMID:19564653|PMID:19578037|PMID:19623215|PMID:19806373|PMID:20734096|PMID:21270142|PMID:21280142|PMID:21441262|PMID:21488007|PMID:21694734|PMID:22091895|PMID:22129046|PMID:22190898|PMID:22258524|PMID:22739344|PMID:22968132|PMID:23757202|PMID:23838309|PMID:24412290|PMID:24731847|PMID:24836831|PMID:24901346|PMID:25326635|PMID:25356899|PMID:25741868|PMID:25914188|PMID:26344814|PMID:26364767|PMID:26467025|PMID:26633542|PMID:26938784|PMID:26993267|PMID:27001178|PMID:27029630|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28661489|PMID:28708303|PMID:28781028|PMID:28851325|PMID:28947817|PMID:29389947|PMID:29611406|PMID:29655203|PMID:29852413|PMID:30525188|PMID:30533527|PMID:30792901|PMID:30842224|PMID:30866059|PMID:31780880|PMID:32581362|PMID:34284163|PMID:34837432 329347111 FOXG1 forkhead box G1 gene DOID:9250 acrocallosal syndrome ISO RGD:737514 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:18627055 329347206 AP5S1 adaptor related protein complex 5 subunit sigma 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1345016 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 329347206 AP5S1 adaptor related protein complex 5 subunit sigma 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1345016 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 329347206 AP5S1 adaptor related protein complex 5 subunit sigma 1 gene DOID:630 genetic disease ISO RGD:1345016 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329347206 AP5S1 adaptor related protein complex 5 subunit sigma 1 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1345016 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 329347270 AMELX amelogenin X-linked gene DOID:0110058 amelogenesis imperfecta type 1E ISO RGD:735379 D RGD:7240710 20230505 OMIM 329347270 AMELX amelogenin X-linked gene DOID:0110058 amelogenesis imperfecta type 1E ISO RGD:735379 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth PMID:10669095|PMID:11201048|PMID:11839357|PMID:11922868|PMID:1483698|PMID:15111628|PMID:1916828|PMID:1967204|PMID:23251683|PMID:25741868|PMID:3169793|PMID:4623931|PMID:5225441|PMID:7599636|PMID:8406474|PMID:9188994 329347270 AMELX amelogenin X-linked gene DOID:12849 autistic disorder ISO RGD:735379 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 329347270 AMELX amelogenin X-linked gene DOID:13938 amenorrhea ISO RGD:735379 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 329347270 AMELX amelogenin X-linked gene DOID:2187 amelogenesis imperfecta ISO RGD:735379 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta 329347270 AMELX amelogenin X-linked gene DOID:630 genetic disease ISO RGD:735379 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329347270 AMELX amelogenin X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735379 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 329347376 NAB2 NGFI-A binding protein 2 gene DOID:630 genetic disease ISO RGD:1323313 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329347376 NAB2 NGFI-A binding protein 2 gene DOID:9002958 Solitary Fibrous Tumors ISO RGD:1323313 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:23313952|PMID:23313954 329347402 TMEM238L transmembrane protein 238 like gene DOID:9008443 Colorectal Neoplasms ISO RGD:6893029 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 329347467 SPATA19 spermatogenesis associated 19 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1606425 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 329347467 SPATA19 spermatogenesis associated 19 gene DOID:5419 schizophrenia ISO RGD:1606425 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 329347467 SPATA19 spermatogenesis associated 19 gene DOID:630 genetic disease ISO RGD:1606425 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329347467 SPATA19 spermatogenesis associated 19 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606425 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 329347468 MUC8 mucin 8 gene DOID:9256 colorectal cancer ISO RGD:1347821 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 329347556 PCSK4 proprotein convertase subtilisin/kexin type 4 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1345180 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 329347556 PCSK4 proprotein convertase subtilisin/kexin type 4 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1345180 D RGD:9068941 20230504 RGD DNA:SNP:3'utr: (rs1047854) C>T (human) PMID:27354594|REF_RGD_ID:152177496 329347556 PCSK4 proprotein convertase subtilisin/kexin type 4 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1345180 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 329347556 PCSK4 proprotein convertase subtilisin/kexin type 4 gene DOID:5339 cyclic hematopoiesis ISO RGD:1345180 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 329347556 PCSK4 proprotein convertase subtilisin/kexin type 4 gene DOID:630 genetic disease ISO RGD:1345180 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329347556 PCSK4 proprotein convertase subtilisin/kexin type 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345180 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 329347627 ZNF557 zinc finger protein 557 gene DOID:0080490 mucolipidosis type IV ISO RGD:1345414 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 329347627 ZNF557 zinc finger protein 557 gene DOID:630 genetic disease ISO RGD:1345414 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329347631 DAZ3 deleted in azoospermia 3 gene DOID:0070187 Y-linked spermatogenic failure 2 ISO RGD:1344002 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism 329347631 DAZ3 deleted in azoospermia 3 gene DOID:12849 autistic disorder ISO RGD:1344002 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 329347638 IL9R interleukin 9 receptor gene DOID:0112003 immunodeficiency 33 ISO RGD:735670 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 329347638 IL9R interleukin 9 receptor gene DOID:12849 autistic disorder ISO RGD:735670 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 329347638 IL9R interleukin 9 receptor gene DOID:1485 cystic fibrosis ISO RGD:735670 D RGD:9068941 20230504 RGD protein:increased expression:respiratory system mucosa PMID:12782818|REF_RGD_ID:5128699 329347638 IL9R interleukin 9 receptor gene DOID:2841 asthma ISO RGD:735670 D RGD:9068941 20230504 RGD PMID:10629460|REF_RGD_ID:5128704 329347638 IL9R interleukin 9 receptor gene DOID:409 liver disease ISO RGD:735670 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 329347638 IL9R interleukin 9 receptor gene DOID:9000998 Brain Injuries ISO RGD:735670 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 329347638 IL9R interleukin 9 receptor gene DOID:9002720 Splenomegaly ISO RGD:735670 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 329347666 SPIN3 spindlin family member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604513 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 329347666 SPIN3 spindlin family member 3 gene DOID:12849 autistic disorder ISO RGD:1604513 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 329347666 SPIN3 spindlin family member 3 gene DOID:630 genetic disease ISO RGD:1604513 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329347682 RER1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1351700 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 329347682 RER1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1351700 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 329347682 RER1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1351700 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 329347682 RER1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1351700 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) 329347682 RER1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0080481 peroxisome biogenesis disorder 6A ISO RGD:1351700 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A (Zellweger) 329347682 RER1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1351700 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 329347682 RER1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1351700 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 329347682 RER1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0111934 immunodeficiency 38 ISO RGD:1351700 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 329347682 RER1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0111935 immunodeficiency 16 ISO RGD:1351700 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 329347682 RER1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1351700 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 329347682 RER1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:630 genetic disease ISO RGD:1351700 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329347682 RER1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351700 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 329347682 RER1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1351700 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 329347682 RER1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1351700 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 329347687 SRY sex determining region Y gene DOID:0111761 46,XX sex reversal 1 ISO RGD:737205 D RGD:7240710 20230505 OMIM 329347687 SRY sex determining region Y gene DOID:0111761 46,XX sex reversal 1 ISO RGD:737205 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 46,XX sex reversal 1 PMID:25741868 329347687 SRY sex determining region Y gene DOID:0111778 46,XY sex reversal 1 ISO RGD:737205 D RGD:7240710 20230505 OMIM 329347687 SRY sex determining region Y gene DOID:0111778 46,XY sex reversal 1 ISO RGD:737205 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 1 PMID:10670762|PMID:10843173|PMID:10852465|PMID:12107262|PMID:12409269|PMID:12793612|PMID:1339396|PMID:1415266|PMID:1438307|PMID:1483689|PMID:1570829|PMID:1619028|PMID:1639410|PMID:16510537|PMID:16675314|PMID:1734522|PMID:1956279|PMID:20528776|PMID:2247149|PMID:2247151|PMID:2401216|PMID:25741868|PMID:28492532|PMID:28787711|PMID:7718558|PMID:7985018|PMID:7987333|PMID:8019555|PMID:8105086|PMID:8257986|PMID:8353496|PMID:9150734|PMID:9443877|PMID:9450909|PMID:9521592 329347687 SRY sex determining region Y gene DOID:12849 autistic disorder ISO RGD:737205 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 329347687 SRY sex determining region Y gene DOID:14448 46,XY sex reversal ISO RGD:737205 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:27576690 329347687 SRY sex determining region Y gene DOID:14448 46,XY sex reversal ISO RGD:737205 D RGD:9068941 20230504 RGD PMID:2247151|PMID:8257986|REF_RGD_ID:1598780|REF_RGD_ID:1599179 329347687 SRY sex determining region Y gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:737205 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development PMID:25741868|PMID:29378242|PMID:8353496 329347687 SRY sex determining region Y gene DOID:9006530 46,Xy True Hermaphroditism, Sry-Related ISO RGD:737205 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 46,XY true hermaphroditism, SRY-related PMID:12793612|PMID:1483689|PMID:1570829|PMID:1734522|PMID:1956279|PMID:2247149|PMID:8257986|PMID:9450909 329347712 ADSS1 adenylosuccinate synthase 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1351020 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 329347712 ADSS1 adenylosuccinate synthase 1 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1351020 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 329347712 ADSS1 adenylosuccinate synthase 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1351020 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:26506222|PMID:28492532|PMID:31680123 329347712 ADSS1 adenylosuccinate synthase 1 gene DOID:1115 sarcoma ISO RGD:1590342 D RGD:9068941 20230504 RGD protein:decreased activity:tumor (rat) PMID:2560335|REF_RGD_ID:5143928 329347712 ADSS1 adenylosuccinate synthase 1 gene DOID:630 genetic disease ISO RGD:1351020 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 329347712 ADSS1 adenylosuccinate synthase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1590342 D RGD:9068941 20230504 RGD protein:increased activity:heart (rat) PMID:3360219|REF_RGD_ID:1598762 329347712 ADSS1 adenylosuccinate synthase 1 gene DOID:9006602 Distal Myopathy 5 ISO RGD:1351020 D RGD:7240710 20230505 OMIM 329347712 ADSS1 adenylosuccinate synthase 1 gene DOID:9006602 Distal Myopathy 5 ISO RGD:1351020 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myopathy, distal, 5 PMID:16199547|PMID:25741868|PMID:26506222|PMID:27868399|PMID:28268051|PMID:28492532|PMID:31680123|PMID:32331917 329347776 C8H8orf82 chromosome 8 C8orf82 homolog gene DOID:0050654 Baller-Gerold syndrome ISO RGD:1606363 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:12734318|PMID:12952869|PMID:28492532 329347776 C8H8orf82 chromosome 8 C8orf82 homolog gene DOID:630 genetic disease ISO RGD:1606363 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329347781 GPT glutamic--pyruvic transaminase gene DOID:0050654 Baller-Gerold syndrome ISO RGD:734191 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:12734318|PMID:28492532 329347781 GPT glutamic--pyruvic transaminase gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:734191 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 329347781 GPT glutamic--pyruvic transaminase gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:734191 D RGD:9068941 20230504 RGD protein:increased activity:plasma PMID:22922605|REF_RGD_ID:14975251 329347781 GPT glutamic--pyruvic transaminase gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:734191 D RGD:9068941 20230504 RGD PMID:24768200|REF_RGD_ID:14975160 329347781 GPT glutamic--pyruvic transaminase gene DOID:0080546 non-alcoholic fatty liver ISO RGD:734192 D RGD:9068941 20230504 RGD protein:increased expression:liver,serum PMID:18710424|REF_RGD_ID:14975250 329347781 GPT glutamic--pyruvic transaminase gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:734191 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 329347781 GPT glutamic--pyruvic transaminase gene DOID:0111670 primary hyperoxaluria type 1 treatment ISO RGD:734192 D RGD:9068941 20230504 RGD PMID:27239044|REF_RGD_ID:13782155 329347781 GPT glutamic--pyruvic transaminase gene DOID:3571 liver cancer treatment ISO RGD:734191 D RGD:9068941 20230504 RGD PMID:22922605|REF_RGD_ID:14975251 329347781 GPT glutamic--pyruvic transaminase gene DOID:409 liver disease ISO RGD:734191 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:25455894 329347781 GPT glutamic--pyruvic transaminase gene DOID:4621 holoprosencephaly ISO RGD:734191 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 329347781 GPT glutamic--pyruvic transaminase gene DOID:5082 liver cirrhosis severity ISO RGD:734191 D RGD:9068941 20230504 RGD associated with Hepatitis B, Chronic; PMID:30665287|REF_RGD_ID:14975252 329347781 GPT glutamic--pyruvic transaminase gene DOID:630 genetic disease ISO RGD:734191 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329347781 GPT glutamic--pyruvic transaminase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734191 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 329347781 GPT glutamic--pyruvic transaminase gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:621720 D RGD:9068941 20230504 RGD PMID:22706148|REF_RGD_ID:8552768 329347781 GPT glutamic--pyruvic transaminase gene DOID:9003018 Halothane Hepatitis treatment ISO RGD:621720 D RGD:9068941 20230504 RGD PMID:28921207|REF_RGD_ID:14975164 329347781 GPT glutamic--pyruvic transaminase gene DOID:9004009 Reperfusion Injury ISO RGD:734191 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:8215636 329347781 GPT glutamic--pyruvic transaminase gene DOID:9004017 Chronic Hepatitis C ISO RGD:734191 D RGD:9068941 20230504 RGD protein:increased activity:plasma PMID:22922605|REF_RGD_ID:14975251 329347781 GPT glutamic--pyruvic transaminase gene DOID:9004484 Sepsis treatment ISO RGD:621720 D RGD:9068941 20230504 RGD PMID:26814114|REF_RGD_ID:14975161 329347781 GPT glutamic--pyruvic transaminase gene DOID:9004590 Acute Liver Failure ISO RGD:734191 D RGD:9068941 20230504 RGD protein:increased expression:blood PMID:28513770|REF_RGD_ID:14975169 329347781 GPT glutamic--pyruvic transaminase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:621720 D RGD:9068941 20230504 RGD protein:increased expression, activity:serum: PMID:19085960|REF_RGD_ID:14975249 329347781 GPT glutamic--pyruvic transaminase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734191 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:145039|PMID:19481104 329347781 GPT glutamic--pyruvic transaminase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734192 D RGD:9068941 20230504 RGD protein:increased expression, activity:serum: PMID:19085960|REF_RGD_ID:14975249 329347781 GPT glutamic--pyruvic transaminase gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:621720 D RGD:9068941 20230504 RGD PMID:21772750|PMID:27293452|REF_RGD_ID:14975166|REF_RGD_ID:14975168 329347781 GPT glutamic--pyruvic transaminase gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:734192 D RGD:9068941 20230504 RGD PMID:28487901|REF_RGD_ID:14975162 329347781 GPT glutamic--pyruvic transaminase gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:734191 D RGD:9068941 20230504 RGD PMID:28007350|REF_RGD_ID:14975240 329347781 GPT glutamic--pyruvic transaminase gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:734191 D RGD:9068941 20230504 RGD PMID:29279233|REF_RGD_ID:14975159 329347781 GPT glutamic--pyruvic transaminase gene DOID:9352 type 2 diabetes mellitus ISO RGD:621720 D RGD:9068941 20230504 RGD protein:increased expression, activity:liver: PMID:25865565|REF_RGD_ID:11342811 329347781 GPT glutamic--pyruvic transaminase gene DOID:9452 fatty liver disease ISO RGD:734191 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:19481104 329347781 GPT glutamic--pyruvic transaminase gene DOID:9452 fatty liver disease ISO RGD:734191 D RGD:9068941 20230504 RGD protein:increased expression:serum PMID:30185098|REF_RGD_ID:14975167 329347798 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:0060041 autism spectrum disorder ISO RGD:736866 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 329347798 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:71101 D RGD:9068941 20230504 RGD protein:increased expression:liver PMID:22112382|REF_RGD_ID:11040992 329347798 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:12308 Dubin-Johnson syndrome ISO RGD:71101 D RGD:9068941 20230504 RGD PMID:14731123|REF_RGD_ID:1598620 329347798 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:12700 hyperprolactinemia ISO RGD:71101 D RGD:9068941 20230504 RGD protein:increased expression:liver PMID:23486593|REF_RGD_ID:11535162 329347798 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:13580 cholestasis ISO RGD:71101 D RGD:9068941 20230504 RGD protein:increased expression:liver PMID:18096675|PMID:23486593|REF_RGD_ID:11535162|REF_RGD_ID:2301060 329347798 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:13580 cholestasis ISO RGD:736866 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:22461449 329347798 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:1793 pancreatic cancer severity ISO RGD:736866 D RGD:9068941 20230504 RGD mRNA:increased expression:pancreas PMID:15688370|REF_RGD_ID:2325200 329347798 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:2741 bilirubin metabolic disorder ISO RGD:71101 D RGD:9068941 20230504 RGD mRNA:increased expression:liver PMID:16543292|REF_RGD_ID:2301069 329347798 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:557 kidney disease severity ISO RGD:71101 D RGD:9068941 20230504 RGD mRNA:increased expression:kidney PMID:17855625|REF_RGD_ID:2301062 329347798 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:630 genetic disease ISO RGD:736866 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 329347798 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:684 hepatocellular carcinoma ISO RGD:71101 D RGD:9068941 20230504 RGD mRNA:increased expression:liver PMID:25842354|REF_RGD_ID:11535155 329347798 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:7148 rheumatoid arthritis ISO RGD:736866 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 329347798 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:783 end stage renal disease ISO RGD:71101 D RGD:9068941 20230504 RGD protein:decreased expression:intestine PMID:17135344|REF_RGD_ID:2301067 329347798 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:9005369 Hepatomegaly ISO RGD:736866 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 329347798 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:71101 D RGD:9068941 20230504 RGD mRNA:increased expression:liver PMID:20487213|REF_RGD_ID:11541075 329347798 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736866 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 329347798 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:736866 D RGD:9068941 20230504 RGD PMID:26512967|REF_RGD_ID:11081145 329347798 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:9452 fatty liver disease ISO RGD:71101 D RGD:9068941 20230504 RGD mRNA, protein:increased expression:liver PMID:17640958|REF_RGD_ID:2301064